diff --git a/.github/workflows/bert-models-cicd.yaml b/.github/workflows/bert-models-cicd.yaml
index 4550ec72..87ef2810 100644
--- a/.github/workflows/bert-models-cicd.yaml
+++ b/.github/workflows/bert-models-cicd.yaml
@@ -47,1418 +47,904 @@ jobs:
   # ----------------------------------------------------------------------------------- #
   # ----------------------------------------------------------------------------------- #
 
-  build_push-bert-base:
-    name: "build/push bluebert-base container image"
-    runs-on: ubuntu-latest
-    env:
-      IMAGE_NAME: bluebert-base
-      DOCKERFILE: base.Dockerfile
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    # - name: Get changed files
-    #   id: changed-files
-    #   uses: tj-actions/changed-files@v7
-    # - name: List all modified files
-    #   run: |
-    #     for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-    #       echo "$file was modified"
-    #     done
-    # - name: Run step when a file changes
-    #   if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
-    #   run: |
-    #     echo "Your file ${{ env.DOCKERFILE }} has been modified."
-    - name: Set up Cloud SDK
-      # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-    - name: Configure Docker Authentication
-      # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
-      run: gcloud --quiet auth configure-docker
-    - name: Set MODEL_VERSION env
-      # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
-      run: echo "MODEL_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-    - name: Build Docker Image
-      # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
-      run: docker build --tag "gcr.io/$PROJECT_ID/$IMAGE_NAME:$MODEL_VERSION" -f ${{ env.DOCKERFILE }} .
-    - name: Publish Docker Image to Google Container Registry
-      # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
-      run: docker push "gcr.io/$PROJECT_ID/$IMAGE_NAME:$MODEL_VERSION"
-
-# ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  #              TRAIN BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE MODEL               #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-
-  build_push_train-bl_gene_loss_gain_of_function_to_disease-train:
-    name: "build/push/train bl_gene_loss_gain_of_function_to_disease model"
-    # needs: "build_push-bert-base"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_gene_loss_gain_of_function_to_disease
-      DOCKERFILE: train.Dockerfile
-      ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_gene_loss_gain_of_function_to_disease/data.tsv
-      MODEL_VERSION_KEY: BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE
-      AI_PLATFORM_JOB_NAME: "bl_gene_loss_gain_of_function_to_disease_train_${{ github.run_number }}"
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
-
-    - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
-        --scale-tier basic_gpu --region "$GCE_REGION" \
-        --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-        -- \
-        NO_ARG \
-        "gs://$MODEL_STORAGE_BUCKET"
-
-    - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 1800
-
-  # -------------------------------------------------------------------------------------- #
-  # BUILD/PUSH BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE CLASSIFICATION CONTAINER IMAGE #
-  # -------------------------------------------------------------------------------------- #
-    
-  build_push-bl_gene_loss_gain_of_function_to_disease-predict:
-    name: "build/push bl_gene_loss_gain_of_function_to_disease predict container"
-    needs: "build_push_train-bl_gene_loss_gain_of_function_to_disease-train"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_gene_loss_gain_of_function_to_disease
-      DOCKERFILE: predict.Dockerfile
-      TRAIN_DOCKERFILE: train.Dockerfile
-      TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE
-      CLASSIFICATION_LABELS: "contributes_to_via_loss_of_function	contributes_to_via_gain_of_function	false"
-      DATA_FILE: data/bl_gene_loss_gain_of_function_to_disease/data.tsv
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
-                     --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
-
-
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  #              TRAIN BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE MODEL               #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-
-  build_push_train-bl_chemical_to_disease_or_phenotypic_feature-train:
-    name: "build/push/train bl_chemical_to_disease_or_phenotypic_feature model"
-    needs: "build_push-bert-base"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_chemical_to_disease_or_phenotypic_feature
-      DOCKERFILE: train.Dockerfile
-      ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_chemical_to_disease_or_phenotypic_feature/data.tsv
-      MODEL_VERSION_KEY: BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE
-      AI_PLATFORM_JOB_NAME: "bl_chemical_to_disease_or_phenotypic_feature_train_${{ github.run_number }}"
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
-
-    - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
-        --scale-tier basic_gpu --region "$GCE_REGION" \
-        --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-        -- \
-        NO_ARG \
-        "gs://$MODEL_STORAGE_BUCKET"
-
-    - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 180
-
-  # -------------------------------------------------------------------------------------- #
-  # BUILD/PUSH BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE CLASSIFICATION CONTAINER IMAGE #
-  # -------------------------------------------------------------------------------------- #
-    
-  build_push-bl_chemical_to_disease_or_phenotypic_feature-predict:
-    name: "build/push bl_chemical_to_disease_or_phenotypic_feature predict container"
-    needs: "build_push_train-bl_chemical_to_disease_or_phenotypic_feature-train"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_chemical_to_disease_or_phenotypic_feature
-      DOCKERFILE: predict.Dockerfile
-      TRAIN_DOCKERFILE: train.Dockerfile
-      TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE
-      CLASSIFICATION_LABELS: "treats  false"
-      DATA_FILE: data/bl_chemical_to_disease_or_phenotypic_feature/data.tsv
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
-                     --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
-
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  #                          TRAIN BL_CHEMICAL_TO_GENE MODEL                            #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  
-  build_push_train-bl_chemical_to_gene-train:
-    name: "build/push/train bl_chemical_to_gene model"
-    needs: "build_push-bert-base"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_chemical_to_gene
-      DOCKERFILE: train.Dockerfile
-      ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_chemical_to_gene/data.tsv
-      MODEL_VERSION_KEY: BL_CHEMICAL_TO_GENE
-      AI_PLATFORM_JOB_NAME: "bl_chemical_to_gene_train_${{ github.run_number }}"
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build ChemProt Corpus container image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --tag chemprot -f data/bl_chemical_to_gene/chemprot.Dockerfile data/bl_chemical_to_gene
-
-    - name: Process ChemProt Corpus and append to data/bl_chemical_to_gene/data.tsv
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker run --rm -v "$PWD/data/bl_chemical_to_gene:/home/dev/output" chemprot
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
-
-    - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
-        --scale-tier basic_gpu --region "$GCE_REGION" \
-        --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-        -- \
-        NO_ARG \
-        "gs://$MODEL_STORAGE_BUCKET"
-
-    - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 17280
-        # Initial training of the chemical_to_gene model required 250 minutes 
-        # using the basic_gpu tier (Tesla K80), so we set the timeout to 360 minutes
-        # here to be sure to allow enough time to finish. Note: 360 minutes might be the 
-        # default timeout, so setting a timeout might not be necessary.
-
-
-  # ----------------------------------------------------------------------------------- #
-  #              BUILD/PUSH BL_CHEMICAL_TO_GENE CLASSIFICATION CONTAINER IMAGE          #
-  # ----------------------------------------------------------------------------------- #
-    
-  build_push-bl_chemical_to_gene-predict:
-    name: "build/push bl_chemical_to_gene predict container"
-    needs: "build_push_train-bl_chemical_to_gene-train"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_chemical_to_gene
-      DOCKERFILE: predict.Dockerfile
-      TRAIN_DOCKERFILE: train.Dockerfile
-      TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_CHEMICAL_TO_GENE
-      CLASSIFICATION_LABELS: "positively_regulates  negatively_regulates  false"
-      DATA_FILE: data/bl_chemical_to_gene/data.tsv
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
-                     --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
-
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  #                      TRAIN BL_DISEASE_TO_PHENOTYPIC_FEATURE MODEL                   #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  
-  build_push_train-bl_disease_to_phenotypic_feature-train:
-    name: "build/push/train bl_disease_to_phenotypic_feature model"
-    needs: "build_push-bert-base"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_disease_to_phenotypic_feature
-      DOCKERFILE: train.Dockerfile
-      ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_disease_to_phenotypic_feature/data.tsv
-      MODEL_VERSION_KEY: BL_DISEASE_TO_PHENOTYPIC_FEATURE
-      AI_PLATFORM_JOB_NAME: "bl_disease_to_phenotypic_feature_train_${{ github.run_number }}"
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
-
-    - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
-        --scale-tier basic_gpu --region "$GCE_REGION" \
-        --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-        -- \
-        NO_ARG \
-        "gs://$MODEL_STORAGE_BUCKET"
-
-    - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 180
-
-  # ----------------------------------------------------------------------------------- #
-  #      BUILD/PUSH BL_DISEASE_TO_PHENOTYPIC_FEATURE CLASSIFICATION CONTAINER IMAGE     #
-  # ----------------------------------------------------------------------------------- #
-    
-  build_push-bl_disease_to_phenotypic_feature-predict:
-    name: "build/push bl_disease_to_phenotypic_feature predict container"
-    needs: "build_push_train-bl_disease_to_phenotypic_feature-train"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_disease_to_phenotypic_feature
-      DOCKERFILE: predict.Dockerfile
-      TRAIN_DOCKERFILE: train.Dockerfile
-      TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_DISEASE_TO_PHENOTYPIC_FEATURE
-      CLASSIFICATION_LABELS: "has_symptom  false"
-      DATA_FILE: data/bl_disease_to_phenotypic_feature/data.tsv
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
-                     --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
-
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  #                      TRAIN BL_GENE_REGULATORY_RELATIONSHIP MODEL                    #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  
-  build_push_train-bl_gene_regulatory_relationship-train:
-    name: "build/push/train bl_gene_regulatory_relationship model"
-    needs: "build_push-bert-base"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_gene_regulatory_relationship
-      DOCKERFILE: train.Dockerfile
-      ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_gene_regulatory_relationship/data.tsv
-      MODEL_VERSION_KEY: BL_GENE_REGULATORY_RELATIONSHIP
-      AI_PLATFORM_JOB_NAME: "bl_gene_regulatory_relationship_train_${{ github.run_number }}"
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build GeneReg Corpus container image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --tag genereg -f data/bl_gene_regulatory_relationship/genereg.Dockerfile data/bl_gene_regulatory_relationship
-  
-    - name: Process GeneReg Corpus and append to data/bl_gene_regulator_relationship/data.tsv
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker run --rm -v "$PWD/data/bl_gene_regulatory_relationship:/home/dev/output" genereg
+  # build_push-bert-base:
+  #   name: "build/push bluebert-base container image"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     IMAGE_NAME: bluebert-base
+  #     DOCKERFILE: base.Dockerfile
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   # - name: Get changed files
+  #   #   id: changed-files
+  #   #   uses: tj-actions/changed-files@v7
+  #   # - name: List all modified files
+  #   #   run: |
+  #   #     for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #   #       echo "$file was modified"
+  #   #     done
+  #   # - name: Run step when a file changes
+  #   #   if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
+  #   #   run: |
+  #   #     echo "Your file ${{ env.DOCKERFILE }} has been modified."
+  #   - name: Set up Cloud SDK
+  #     # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+  #   - name: Configure Docker Authentication
+  #     # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
+  #     run: gcloud --quiet auth configure-docker
+  #   - name: Set MODEL_VERSION env
+  #     # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
+  #     run: echo "MODEL_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+  #   - name: Build Docker Image
+  #     # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
+  #     run: docker build --tag "gcr.io/$PROJECT_ID/$IMAGE_NAME:$MODEL_VERSION" -f ${{ env.DOCKERFILE }} .
+  #   - name: Publish Docker Image to Google Container Registry
+  #     # if: contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE)
+  #     run: docker push "gcr.io/$PROJECT_ID/$IMAGE_NAME:$MODEL_VERSION"
+
+# # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   #              TRAIN BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE MODEL               #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+
+#   build_push_train-bl_gene_loss_gain_of_function_to_disease-train:
+#     name: "build/push/train bl_gene_loss_gain_of_function_to_disease model"
+#     # needs: "build_push-bert-base"
+#     runs-on: ubuntu-latest
+#     env:
+#       TASK_NAME: bl_gene_loss_gain_of_function_to_disease
+#       DOCKERFILE: train.Dockerfile
+#       ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+#       BASE_DOCKERFILE: base.Dockerfile
+#       DATA_FILE: data/bl_gene_loss_gain_of_function_to_disease/data.tsv
+#       MODEL_VERSION_KEY: BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE
+#       AI_PLATFORM_JOB_NAME: "bl_gene_loss_gain_of_function_to_disease_train_${{ github.run_number }}"
+#     steps:
+#     - uses: actions/checkout@v2
+#       with:
+#         fetch-depth: 0
+#     - name: Get changed files
+#       id: changed-files
+#       uses: tj-actions/changed-files@v7
+
+#     - name: List all modified files
+#       run: |
+#         for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+#           echo "$file was modified"
+#         done
+
+#     - name: Run step when a file changes
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+
+#     - name: Set up Cloud SDK
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       uses: google-github-actions/setup-gcloud@main
+#       with:
+#         project_id: ${{ secrets.GCE_PROJECT }}
+#         service_account_key: ${{ secrets.GCE_SA_KEY }}
+#         version: '290.0.1'
+
+#     - name: Configure Docker Authentication
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud --quiet auth configure-docker
+
+#     - name: Set MODEL_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Set BASE_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Build Docker Image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+#                      --build-arg "TASK_NAME=$TASK_NAME" \
+#                      --build-arg "BASE_VERSION=$BASE_VERSION" \
+#                      --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+#                      --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+#                      -f ${{ env.DOCKERFILE }} .
+
+#     - name: Publish Docker Image to Google Container Registry
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
+
+#     - name: Submit a training job to AI Plaform to train and cache the model
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
+#         --scale-tier basic_gpu --region "$GCE_REGION" \
+#         --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+#         -- \
+#         NO_ARG \
+#         "gs://$MODEL_STORAGE_BUCKET"
+
+#     - name: Monitor the training job
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
+#       timeout-minutes: 1800
+
+#   # -------------------------------------------------------------------------------------- #
+#   # BUILD/PUSH BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE CLASSIFICATION CONTAINER IMAGE #
+#   # -------------------------------------------------------------------------------------- #
+    
+#   build_push-bl_gene_loss_gain_of_function_to_disease-predict:
+#     name: "build/push bl_gene_loss_gain_of_function_to_disease predict container"
+#     needs: "build_push_train-bl_gene_loss_gain_of_function_to_disease-train"
+#     runs-on: ubuntu-latest
+#     env:
+#       TASK_NAME: bl_gene_loss_gain_of_function_to_disease
+#       DOCKERFILE: predict.Dockerfile
+#       TRAIN_DOCKERFILE: train.Dockerfile
+#       TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+#       ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
+#       BASE_DOCKERFILE: base.Dockerfile
+#       MODEL_VERSION_KEY: BL_GENE_LOSS_GAIN_OF_FUNCTION_TO_DISEASE
+#       CLASSIFICATION_LABELS: "contributes_to_via_loss_of_function	contributes_to_via_gain_of_function	false"
+#       DATA_FILE: data/bl_gene_loss_gain_of_function_to_disease/data.tsv
+#     steps:
+#     - uses: actions/checkout@v2
+#       with:
+#         fetch-depth: 0
+#     - name: Get changed files
+#       id: changed-files
+#       uses: tj-actions/changed-files@v7
+
+#     - name: List all modified files
+#       run: |
+#         for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+#           echo "$file was modified"
+#         done
+
+#     - name: Run step when a file changes
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+
+#     - name: Set up Cloud SDK
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       uses: google-github-actions/setup-gcloud@main
+#       with:
+#         project_id: ${{ secrets.GCE_PROJECT }}
+#         service_account_key: ${{ secrets.GCE_SA_KEY }}
+#         version: '290.0.1'
+
+#     - name: Configure Docker Authentication
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud --quiet auth configure-docker
+
+#     - name: Set MODEL_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Set BASE_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Build Docker Image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+#                      --build-arg "TASK_NAME=$TASK_NAME" \
+#                      --build-arg "BASE_VERSION=$BASE_VERSION" \
+#                      --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+#                      --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
+#                      --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
+#                      --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
+#                      -f ${{ env.DOCKERFILE }} .
+
+#     - name: Publish Docker Image to Google Container Registry
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
+
+
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   #              TRAIN BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE MODEL               #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+
+#   build_push_train-bl_chemical_to_disease_or_phenotypic_feature-train:
+#     name: "build/push/train bl_chemical_to_disease_or_phenotypic_feature model"
+#     needs: "build_push-bert-base"
+#     runs-on: ubuntu-latest
+#     env:
+#       TASK_NAME: bl_chemical_to_disease_or_phenotypic_feature
+#       DOCKERFILE: train.Dockerfile
+#       ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+#       BASE_DOCKERFILE: base.Dockerfile
+#       DATA_FILE: data/bl_chemical_to_disease_or_phenotypic_feature/data.tsv
+#       MODEL_VERSION_KEY: BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE
+#       AI_PLATFORM_JOB_NAME: "bl_chemical_to_disease_or_phenotypic_feature_train_${{ github.run_number }}"
+#     steps:
+#     - uses: actions/checkout@v2
+#       with:
+#         fetch-depth: 0
+#     - name: Get changed files
+#       id: changed-files
+#       uses: tj-actions/changed-files@v7
+
+#     - name: List all modified files
+#       run: |
+#         for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+#           echo "$file was modified"
+#         done
+
+#     - name: Run step when a file changes
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+
+#     - name: Set up Cloud SDK
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       uses: google-github-actions/setup-gcloud@main
+#       with:
+#         project_id: ${{ secrets.GCE_PROJECT }}
+#         service_account_key: ${{ secrets.GCE_SA_KEY }}
+#         version: '290.0.1'
+
+#     - name: Configure Docker Authentication
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud --quiet auth configure-docker
+
+#     - name: Set MODEL_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Set BASE_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Build Docker Image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+#                      --build-arg "TASK_NAME=$TASK_NAME" \
+#                      --build-arg "BASE_VERSION=$BASE_VERSION" \
+#                      --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+#                      --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+#                      -f ${{ env.DOCKERFILE }} .
+
+#     - name: Publish Docker Image to Google Container Registry
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
+
+#     - name: Submit a training job to AI Plaform to train and cache the model
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
+#         --scale-tier basic_gpu --region "$GCE_REGION" \
+#         --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+#         -- \
+#         NO_ARG \
+#         "gs://$MODEL_STORAGE_BUCKET"
+
+#     - name: Monitor the training job
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
+#       timeout-minutes: 180
+
+#   # -------------------------------------------------------------------------------------- #
+#   # BUILD/PUSH BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE CLASSIFICATION CONTAINER IMAGE #
+#   # -------------------------------------------------------------------------------------- #
+    
+#   build_push-bl_chemical_to_disease_or_phenotypic_feature-predict:
+#     name: "build/push bl_chemical_to_disease_or_phenotypic_feature predict container"
+#     needs: "build_push_train-bl_chemical_to_disease_or_phenotypic_feature-train"
+#     runs-on: ubuntu-latest
+#     env:
+#       TASK_NAME: bl_chemical_to_disease_or_phenotypic_feature
+#       DOCKERFILE: predict.Dockerfile
+#       TRAIN_DOCKERFILE: train.Dockerfile
+#       TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+#       ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
+#       BASE_DOCKERFILE: base.Dockerfile
+#       MODEL_VERSION_KEY: BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE
+#       CLASSIFICATION_LABELS: "treats  false"
+#       DATA_FILE: data/bl_chemical_to_disease_or_phenotypic_feature/data.tsv
+#     steps:
+#     - uses: actions/checkout@v2
+#       with:
+#         fetch-depth: 0
+#     - name: Get changed files
+#       id: changed-files
+#       uses: tj-actions/changed-files@v7
+
+#     - name: List all modified files
+#       run: |
+#         for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+#           echo "$file was modified"
+#         done
+
+#     - name: Run step when a file changes
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+
+#     - name: Set up Cloud SDK
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       uses: google-github-actions/setup-gcloud@main
+#       with:
+#         project_id: ${{ secrets.GCE_PROJECT }}
+#         service_account_key: ${{ secrets.GCE_SA_KEY }}
+#         version: '290.0.1'
+
+#     - name: Configure Docker Authentication
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud --quiet auth configure-docker
+
+#     - name: Set MODEL_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Set BASE_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Build Docker Image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+#                      --build-arg "TASK_NAME=$TASK_NAME" \
+#                      --build-arg "BASE_VERSION=$BASE_VERSION" \
+#                      --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+#                      --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
+#                      --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
+#                      --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
+#                      -f ${{ env.DOCKERFILE }} .
+
+#     - name: Publish Docker Image to Google Container Registry
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
+
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   #                          TRAIN BL_CHEMICAL_TO_GENE MODEL                            #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
+#   # ----------------------------------------------------------------------------------- #
   
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
-
-    - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
-        --scale-tier basic_gpu --region "$GCE_REGION" \
-        --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-        -- \
-        NO_ARG \
-        "gs://$MODEL_STORAGE_BUCKET"
-
-    - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 180
-
-  # ----------------------------------------------------------------------------------- #
-  #      BUILD/PUSH BL_GENE_REGULATORY_RELATIONSHIP CLASSIFICATION CONTAINER IMAGE      #
-  # ----------------------------------------------------------------------------------- #
+#   build_push_train-bl_chemical_to_gene-train:
+#     name: "build/push/train bl_chemical_to_gene model"
+#     needs: "build_push-bert-base"
+#     runs-on: ubuntu-latest
+#     env:
+#       TASK_NAME: bl_chemical_to_gene
+#       DOCKERFILE: train.Dockerfile
+#       ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+#       BASE_DOCKERFILE: base.Dockerfile
+#       DATA_FILE: data/bl_chemical_to_gene/data.tsv
+#       MODEL_VERSION_KEY: BL_CHEMICAL_TO_GENE
+#       AI_PLATFORM_JOB_NAME: "bl_chemical_to_gene_train_${{ github.run_number }}"
+#     steps:
+#     - uses: actions/checkout@v2
+#       with:
+#         fetch-depth: 0
+#     - name: Get changed files
+#       id: changed-files
+#       uses: tj-actions/changed-files@v7
+
+#     - name: List all modified files
+#       run: |
+#         for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+#           echo "$file was modified"
+#         done
+
+#     - name: Run step when a file changes
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+
+#     - name: Set up Cloud SDK
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       uses: google-github-actions/setup-gcloud@main
+#       with:
+#         project_id: ${{ secrets.GCE_PROJECT }}
+#         service_account_key: ${{ secrets.GCE_SA_KEY }}
+#         version: '290.0.1'
+
+#     - name: Configure Docker Authentication
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud --quiet auth configure-docker
+
+#     - name: Set MODEL_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Set BASE_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Build ChemProt Corpus container image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --tag chemprot -f data/bl_chemical_to_gene/chemprot.Dockerfile data/bl_chemical_to_gene
+
+#     - name: Process ChemProt Corpus and append to data/bl_chemical_to_gene/data.tsv
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker run --rm -v "$PWD/data/bl_chemical_to_gene:/home/dev/output" chemprot
+
+#     - name: Build Docker Image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+#                      --build-arg "TASK_NAME=$TASK_NAME" \
+#                      --build-arg "BASE_VERSION=$BASE_VERSION" \
+#                      --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+#                      --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+#                      -f ${{ env.DOCKERFILE }} .
+
+#     - name: Publish Docker Image to Google Container Registry
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
+
+#     - name: Submit a training job to AI Plaform to train and cache the model
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
+#         --scale-tier basic_gpu --region "$GCE_REGION" \
+#         --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+#         -- \
+#         NO_ARG \
+#         "gs://$MODEL_STORAGE_BUCKET"
+
+#     - name: Monitor the training job
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
+#       timeout-minutes: 17280
+#         # Initial training of the chemical_to_gene model required 250 minutes 
+#         # using the basic_gpu tier (Tesla K80), so we set the timeout to 360 minutes
+#         # here to be sure to allow enough time to finish. Note: 360 minutes might be the 
+#         # default timeout, so setting a timeout might not be necessary.
+
+
+#   # ----------------------------------------------------------------------------------- #
+#   #              BUILD/PUSH BL_CHEMICAL_TO_GENE CLASSIFICATION CONTAINER IMAGE          #
+#   # ----------------------------------------------------------------------------------- #
     
-  build_push-bl_gene_regulatory_relationship-predict:
-    name: "build/push bl_gene_regulatory_relationship predict container"
-    needs: "build_push_train-bl_gene_regulatory_relationship-train"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_gene_regulatory_relationship
-      DOCKERFILE: predict.Dockerfile
-      TRAIN_DOCKERFILE: train.Dockerfile
-      TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_GENE_REGULATORY_RELATIONSHIP
-      CLASSIFICATION_LABELS: "positively_regulates  negatively_regulates  false"
-      DATA_FILE: data/bl_gene_regulatory_relationship/data.tsv
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
-                     --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
+#   build_push-bl_chemical_to_gene-predict:
+#     name: "build/push bl_chemical_to_gene predict container"
+#     needs: "build_push_train-bl_chemical_to_gene-train"
+#     runs-on: ubuntu-latest
+#     env:
+#       TASK_NAME: bl_chemical_to_gene
+#       DOCKERFILE: predict.Dockerfile
+#       TRAIN_DOCKERFILE: train.Dockerfile
+#       TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+#       ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
+#       BASE_DOCKERFILE: base.Dockerfile
+#       MODEL_VERSION_KEY: BL_CHEMICAL_TO_GENE
+#       CLASSIFICATION_LABELS: "positively_regulates  negatively_regulates  false"
+#       DATA_FILE: data/bl_chemical_to_gene/data.tsv
+#     steps:
+#     - uses: actions/checkout@v2
+#       with:
+#         fetch-depth: 0
+#     - name: Get changed files
+#       id: changed-files
+#       uses: tj-actions/changed-files@v7
+
+#     - name: List all modified files
+#       run: |
+#         for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+#           echo "$file was modified"
+#         done
+
+#     - name: Run step when a file changes
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+
+#     - name: Set up Cloud SDK
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       uses: google-github-actions/setup-gcloud@main
+#       with:
+#         project_id: ${{ secrets.GCE_PROJECT }}
+#         service_account_key: ${{ secrets.GCE_SA_KEY }}
+#         version: '290.0.1'
+
+#     - name: Configure Docker Authentication
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         gcloud --quiet auth configure-docker
+
+#     - name: Set MODEL_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Set BASE_VERSION env
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+#     - name: Build Docker Image
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+#                      --build-arg "TASK_NAME=$TASK_NAME" \
+#                      --build-arg "BASE_VERSION=$BASE_VERSION" \
+#                      --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+#                      --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
+#                      --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
+#                      --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
+#                      -f ${{ env.DOCKERFILE }} .
+
+#     - name: Publish Docker Image to Google Container Registry
+#       if: |
+#         contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+#         contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+#       run: |
+#         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
 
   # ----------------------------------------------------------------------------------- #
   # ----------------------------------------------------------------------------------- #
   # ----------------------------------------------------------------------------------- #
-  #                            TRAIN BL_GENE_TO_DISEASE MODEL                           #
+  #                      TRAIN BL_DISEASE_TO_PHENOTYPIC_FEATURE MODEL                   #
   # ----------------------------------------------------------------------------------- #
   # ----------------------------------------------------------------------------------- #
   # ----------------------------------------------------------------------------------- #
-
-  build_push_train-bl_gene_to_disease-train:
-    name: "build/push/train bl_gene_to_disease model"
+  
+  build_push_train-bl_disease_to_phenotypic_feature-train:
+    name: "build/push/train bl_disease_to_phenotypic_feature model"
     # needs: "build_push-bert-base"
     runs-on: ubuntu-latest
     env:
-      TASK_NAME: bl_gene_to_disease
+      TASK_NAME: bl_disease_to_phenotypic_feature
       DOCKERFILE: train.Dockerfile
       ENTRYPOINT_FILE: scripts/train.entrypoint.sh
       BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_gene_to_disease/data.tsv
-      MODEL_VERSION_KEY: BL_GENE_TO_DISEASE
-      AI_PLATFORM_JOB_NAME: "bl_gene_to_disease_train_${{ github.run_number }}"
+      DATA_FILE: data/bl_disease_to_phenotypic_feature/data.tsv
+      MODEL_VERSION_KEY: BL_DISEASE_TO_PHENOTYPIC_FEATURE
+      AI_PLATFORM_JOB_NAME: "bl_disease_to_phenotypic_feature_train_${{ github.run_number }}"
     steps:
     - uses: actions/checkout@v2
       with:
         fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
+    # - name: Get changed files
+    #   id: changed-files
+    #   uses: tj-actions/changed-files@v7
 
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+    # - name: List all modified files
+    #   run: |
+    #     for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+    #       echo "$file was modified"
+    #     done
+
+    # - name: Run step when a file changes
+    #   if: |
+    #     contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+    #   run: |
+    #     echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
 
     - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      uses: google-github-actions/setup-gcloud@main
       with:
         project_id: ${{ secrets.GCE_PROJECT }}
         service_account_key: ${{ secrets.GCE_SA_KEY }}
         version: '290.0.1'
 
     - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         gcloud --quiet auth configure-docker
 
     - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
 
     - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
 
     - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
                      --build-arg "TASK_NAME=$TASK_NAME" \
@@ -1468,20 +954,20 @@ jobs:
                      -f ${{ env.DOCKERFILE }} .
 
     - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
 
     - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
         --scale-tier basic_gpu --region "$GCE_REGION" \
@@ -1491,113 +977,113 @@ jobs:
         "gs://$MODEL_STORAGE_BUCKET"
 
     - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 1800
+      timeout-minutes: 800
 
   # ----------------------------------------------------------------------------------- #
-  #             BUILD/PUSH BL_GENE_TO_DISEASE CLASSIFICATION CONTAINER IMAGE            #
+  #      BUILD/PUSH BL_DISEASE_TO_PHENOTYPIC_FEATURE CLASSIFICATION CONTAINER IMAGE     #
   # ----------------------------------------------------------------------------------- #
     
-  build_push-bl_gene_to_disease-predict:
-    name: "build/push bl_gene_to_disease predict container"
-    needs: "build_push_train-bl_gene_to_disease-train"
+  build_push-bl_disease_to_phenotypic_feature-predict:
+    name: "build/push bl_disease_to_phenotypic_feature predict container"
+    needs: "build_push_train-bl_disease_to_phenotypic_feature-train"
     runs-on: ubuntu-latest
     env:
-      TASK_NAME: bl_gene_to_disease
+      TASK_NAME: bl_disease_to_phenotypic_feature
       DOCKERFILE: predict.Dockerfile
       TRAIN_DOCKERFILE: train.Dockerfile
       TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
       ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
       BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_GENE_TO_DISEASE
-      CLASSIFICATION_LABELS: "contributes_to  false"
-      DATA_FILE: data/bl_gene_to_disease/data.tsv
+      MODEL_VERSION_KEY: BL_DISEASE_TO_PHENOTYPIC_FEATURE
+      CLASSIFICATION_LABELS: "has_symptom  false"
+      DATA_FILE: data/bl_disease_to_phenotypic_feature/data.tsv
     steps:
     - uses: actions/checkout@v2
       with:
         fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
+    # - name: Get changed files
+    #   id: changed-files
+    #   uses: tj-actions/changed-files@v7
 
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+    # - name: List all modified files
+    #   run: |
+    #     for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+    #       echo "$file was modified"
+    #     done
+
+    # - name: Run step when a file changes
+    #   if: |
+    #     contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+    #     contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+    #   run: |
+    #     echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
 
     - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      uses: google-github-actions/setup-gcloud@main
       with:
         project_id: ${{ secrets.GCE_PROJECT }}
         service_account_key: ${{ secrets.GCE_SA_KEY }}
         version: '290.0.1'
 
     - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         gcloud --quiet auth configure-docker
 
     - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
 
     - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
 
     - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
                      --build-arg "TASK_NAME=$TASK_NAME" \
@@ -1609,260 +1095,774 @@ jobs:
                      -f ${{ env.DOCKERFILE }} .
 
     - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+      # if: |
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+      #   contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
       run: |
         docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
 
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  #                        TRAIN BL_GENE_TO_EXPRESSION_SITE MODEL                       #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
-  # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # #                      TRAIN BL_GENE_REGULATORY_RELATIONSHIP MODEL                    #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
   
-  build_push_train-bl_gene_to_expression_site-train:
-    name: "build/push/train bl_gene_to_expression_site model"
-    needs: "build_push-bert-base"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_gene_to_expression_site
-      DOCKERFILE: train.Dockerfile
-      ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      DATA_FILE: data/bl_gene_to_expression_site/data.tsv
-      MODEL_VERSION_KEY: BL_GENE_TO_EXPRESSION_SITE
-      AI_PLATFORM_JOB_NAME: "bl_gene_to_expression_site_train_${{ github.run_number }}"
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
-
-    - name: Submit a training job to AI Plaform to train and cache the model
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
-        --scale-tier basic_gpu --region "$GCE_REGION" \
-        --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
-        -- \
-        NO_ARG \
-        "gs://$MODEL_STORAGE_BUCKET"
-
-    - name: Monitor the training job
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
-      timeout-minutes: 180
-
-  # ----------------------------------------------------------------------------------- #
-  #          BUILD/PUSH BL_GENE_TO_EXPRESSION_SITE CLASSIFICATION CONTAINER IMAGE       #
-  # ----------------------------------------------------------------------------------- #
+  # build_push_train-bl_gene_regulatory_relationship-train:
+  #   name: "build/push/train bl_gene_regulatory_relationship model"
+  #   needs: "build_push-bert-base"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     TASK_NAME: bl_gene_regulatory_relationship
+  #     DOCKERFILE: train.Dockerfile
+  #     ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+  #     BASE_DOCKERFILE: base.Dockerfile
+  #     DATA_FILE: data/bl_gene_regulatory_relationship/data.tsv
+  #     MODEL_VERSION_KEY: BL_GENE_REGULATORY_RELATIONSHIP
+  #     AI_PLATFORM_JOB_NAME: "bl_gene_regulatory_relationship_train_${{ github.run_number }}"
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   - name: Get changed files
+  #     id: changed-files
+  #     uses: tj-actions/changed-files@v7
+
+  #   - name: List all modified files
+  #     run: |
+  #       for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #         echo "$file was modified"
+  #       done
+
+  #   - name: Run step when a file changes
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+
+  #   - name: Set up Cloud SDK
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+
+  #   - name: Configure Docker Authentication
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud --quiet auth configure-docker
+
+  #   - name: Set MODEL_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Set BASE_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Build GeneReg Corpus container image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --tag genereg -f data/bl_gene_regulatory_relationship/genereg.Dockerfile data/bl_gene_regulatory_relationship
+  
+  #   - name: Process GeneReg Corpus and append to data/bl_gene_regulator_relationship/data.tsv
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker run --rm -v "$PWD/data/bl_gene_regulatory_relationship:/home/dev/output" genereg
+  
+  #   - name: Build Docker Image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+  #                    --build-arg "TASK_NAME=$TASK_NAME" \
+  #                    --build-arg "BASE_VERSION=$BASE_VERSION" \
+  #                    --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+  #                    --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+  #                    -f ${{ env.DOCKERFILE }} .
+
+  #   - name: Publish Docker Image to Google Container Registry
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
+
+  #   - name: Submit a training job to AI Plaform to train and cache the model
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
+  #       --scale-tier basic_gpu --region "$GCE_REGION" \
+  #       --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+  #       -- \
+  #       NO_ARG \
+  #       "gs://$MODEL_STORAGE_BUCKET"
+
+  #   - name: Monitor the training job
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
+  #     timeout-minutes: 180
+
+  # # ----------------------------------------------------------------------------------- #
+  # #      BUILD/PUSH BL_GENE_REGULATORY_RELATIONSHIP CLASSIFICATION CONTAINER IMAGE      #
+  # # ----------------------------------------------------------------------------------- #
     
-  build_push-bl_gene_to_expression_site-predict:
-    name: "build/push bl_gene_to_expression_site predict container"
-    needs: "build_push_train-bl_gene_to_expression_site-train"
-    runs-on: ubuntu-latest
-    env:
-      TASK_NAME: bl_gene_to_expression_site
-      DOCKERFILE: predict.Dockerfile
-      TRAIN_DOCKERFILE: train.Dockerfile
-      TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
-      ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
-      BASE_DOCKERFILE: base.Dockerfile
-      MODEL_VERSION_KEY: BL_GENE_TO_EXPRESSION_SITE
-      CLASSIFICATION_LABELS: "expressed_in  false"
-      DATA_FILE: data/bl_gene_to_expression_site/data.tsv
-    steps:
-    - uses: actions/checkout@v2
-      with:
-        fetch-depth: 0
-    - name: Get changed files
-      id: changed-files
-      uses: tj-actions/changed-files@v7
-
-    - name: List all modified files
-      run: |
-        for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
-          echo "$file was modified"
-        done
-
-    - name: Run step when a file changes
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
-
-    - name: Set up Cloud SDK
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      uses: google-github-actions/setup-gcloud@master
-      with:
-        project_id: ${{ secrets.GCE_PROJECT }}
-        service_account_key: ${{ secrets.GCE_SA_KEY }}
-        version: '290.0.1'
-
-    - name: Configure Docker Authentication
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        gcloud --quiet auth configure-docker
-
-    - name: Set MODEL_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Set BASE_VERSION env
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
-
-    - name: Build Docker Image
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
-                     --build-arg "TASK_NAME=$TASK_NAME" \
-                     --build-arg "BASE_VERSION=$BASE_VERSION" \
-                     --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
-                     --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
-                     --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
-                     --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
-                     -f ${{ env.DOCKERFILE }} .
-
-    - name: Publish Docker Image to Google Container Registry
-      if: |
-        contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
-        contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
-      run: |
-        docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
\ No newline at end of file
+  # build_push-bl_gene_regulatory_relationship-predict:
+  #   name: "build/push bl_gene_regulatory_relationship predict container"
+  #   needs: "build_push_train-bl_gene_regulatory_relationship-train"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     TASK_NAME: bl_gene_regulatory_relationship
+  #     DOCKERFILE: predict.Dockerfile
+  #     TRAIN_DOCKERFILE: train.Dockerfile
+  #     TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+  #     ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
+  #     BASE_DOCKERFILE: base.Dockerfile
+  #     MODEL_VERSION_KEY: BL_GENE_REGULATORY_RELATIONSHIP
+  #     CLASSIFICATION_LABELS: "positively_regulates  negatively_regulates  false"
+  #     DATA_FILE: data/bl_gene_regulatory_relationship/data.tsv
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   - name: Get changed files
+  #     id: changed-files
+  #     uses: tj-actions/changed-files@v7
+
+  #   - name: List all modified files
+  #     run: |
+  #       for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #         echo "$file was modified"
+  #       done
+
+  #   - name: Run step when a file changes
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+
+  #   - name: Set up Cloud SDK
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+
+  #   - name: Configure Docker Authentication
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud --quiet auth configure-docker
+
+  #   - name: Set MODEL_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Set BASE_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Build Docker Image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+  #                    --build-arg "TASK_NAME=$TASK_NAME" \
+  #                    --build-arg "BASE_VERSION=$BASE_VERSION" \
+  #                    --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+  #                    --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
+  #                    --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
+  #                    --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
+  #                    -f ${{ env.DOCKERFILE }} .
+
+  #   - name: Publish Docker Image to Google Container Registry
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
+
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # #                            TRAIN BL_GENE_TO_DISEASE MODEL                           #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+
+  # build_push_train-bl_gene_to_disease-train:
+  #   name: "build/push/train bl_gene_to_disease model"
+  #   # needs: "build_push-bert-base"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     TASK_NAME: bl_gene_to_disease
+  #     DOCKERFILE: train.Dockerfile
+  #     ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+  #     BASE_DOCKERFILE: base.Dockerfile
+  #     DATA_FILE: data/bl_gene_to_disease/data.tsv
+  #     MODEL_VERSION_KEY: BL_GENE_TO_DISEASE
+  #     AI_PLATFORM_JOB_NAME: "bl_gene_to_disease_train_${{ github.run_number }}"
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   - name: Get changed files
+  #     id: changed-files
+  #     uses: tj-actions/changed-files@v7
+
+  #   - name: List all modified files
+  #     run: |
+  #       for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #         echo "$file was modified"
+  #       done
+
+  #   - name: Run step when a file changes
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+
+  #   - name: Set up Cloud SDK
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+
+  #   - name: Configure Docker Authentication
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud --quiet auth configure-docker
+
+  #   - name: Set MODEL_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Set BASE_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Build Docker Image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+  #                    --build-arg "TASK_NAME=$TASK_NAME" \
+  #                    --build-arg "BASE_VERSION=$BASE_VERSION" \
+  #                    --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+  #                    --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+  #                    -f ${{ env.DOCKERFILE }} .
+
+  #   - name: Publish Docker Image to Google Container Registry
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
+
+  #   - name: Submit a training job to AI Plaform to train and cache the model
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
+  #       --scale-tier basic_gpu --region "$GCE_REGION" \
+  #       --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+  #       -- \
+  #       NO_ARG \
+  #       "gs://$MODEL_STORAGE_BUCKET"
+
+  #   - name: Monitor the training job
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
+  #     timeout-minutes: 1800
+
+  # # ----------------------------------------------------------------------------------- #
+  # #             BUILD/PUSH BL_GENE_TO_DISEASE CLASSIFICATION CONTAINER IMAGE            #
+  # # ----------------------------------------------------------------------------------- #
+    
+  # build_push-bl_gene_to_disease-predict:
+  #   name: "build/push bl_gene_to_disease predict container"
+  #   needs: "build_push_train-bl_gene_to_disease-train"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     TASK_NAME: bl_gene_to_disease
+  #     DOCKERFILE: predict.Dockerfile
+  #     TRAIN_DOCKERFILE: train.Dockerfile
+  #     TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+  #     ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
+  #     BASE_DOCKERFILE: base.Dockerfile
+  #     MODEL_VERSION_KEY: BL_GENE_TO_DISEASE
+  #     CLASSIFICATION_LABELS: "contributes_to  false"
+  #     DATA_FILE: data/bl_gene_to_disease/data.tsv
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   - name: Get changed files
+  #     id: changed-files
+  #     uses: tj-actions/changed-files@v7
+
+  #   - name: List all modified files
+  #     run: |
+  #       for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #         echo "$file was modified"
+  #       done
+
+  #   - name: Run step when a file changes
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+
+  #   - name: Set up Cloud SDK
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+
+  #   - name: Configure Docker Authentication
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud --quiet auth configure-docker
+
+  #   - name: Set MODEL_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Set BASE_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Build Docker Image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+  #                    --build-arg "TASK_NAME=$TASK_NAME" \
+  #                    --build-arg "BASE_VERSION=$BASE_VERSION" \
+  #                    --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+  #                    --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
+  #                    --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
+  #                    --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
+  #                    -f ${{ env.DOCKERFILE }} .
+
+  #   - name: Publish Docker Image to Google Container Registry
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
+
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # #                        TRAIN BL_GENE_TO_EXPRESSION_SITE MODEL                       #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  # # ----------------------------------------------------------------------------------- #
+  
+  # build_push_train-bl_gene_to_expression_site-train:
+  #   name: "build/push/train bl_gene_to_expression_site model"
+  #   needs: "build_push-bert-base"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     TASK_NAME: bl_gene_to_expression_site
+  #     DOCKERFILE: train.Dockerfile
+  #     ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+  #     BASE_DOCKERFILE: base.Dockerfile
+  #     DATA_FILE: data/bl_gene_to_expression_site/data.tsv
+  #     MODEL_VERSION_KEY: BL_GENE_TO_EXPRESSION_SITE
+  #     AI_PLATFORM_JOB_NAME: "bl_gene_to_expression_site_train_${{ github.run_number }}"
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   - name: Get changed files
+  #     id: changed-files
+  #     uses: tj-actions/changed-files@v7
+
+  #   - name: List all modified files
+  #     run: |
+  #       for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #         echo "$file was modified"
+  #       done
+
+  #   - name: Run step when a file changes
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} model."
+
+  #   - name: Set up Cloud SDK
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+
+  #   - name: Configure Docker Authentication
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud --quiet auth configure-docker
+
+  #   - name: Set MODEL_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Set BASE_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Build Docker Image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+  #                    --build-arg "TASK_NAME=$TASK_NAME" \
+  #                    --build-arg "BASE_VERSION=$BASE_VERSION" \
+  #                    --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+  #                    --tag "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+  #                    -f ${{ env.DOCKERFILE }} .
+
+  #   - name: Publish Docker Image to Google Container Registry
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker push "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION"
+
+  #   - name: Submit a training job to AI Plaform to train and cache the model
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud ai-platform jobs submit training ${{ env.AI_PLATFORM_JOB_NAME }} \
+  #       --scale-tier basic_gpu --region "$GCE_REGION" \
+  #       --master-image-uri "gcr.io/$PROJECT_ID/$TASK_NAME-train:$MODEL_VERSION" \
+  #       -- \
+  #       NO_ARG \
+  #       "gs://$MODEL_STORAGE_BUCKET"
+
+  #   - name: Monitor the training job
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       sh -c ".github/workflows/monitor-ai-platform-job.sh ${{ env.AI_PLATFORM_JOB_NAME }}"
+  #     timeout-minutes: 180
+
+  # # ----------------------------------------------------------------------------------- #
+  # #          BUILD/PUSH BL_GENE_TO_EXPRESSION_SITE CLASSIFICATION CONTAINER IMAGE       #
+  # # ----------------------------------------------------------------------------------- #
+    
+  # build_push-bl_gene_to_expression_site-predict:
+  #   name: "build/push bl_gene_to_expression_site predict container"
+  #   needs: "build_push_train-bl_gene_to_expression_site-train"
+  #   runs-on: ubuntu-latest
+  #   env:
+  #     TASK_NAME: bl_gene_to_expression_site
+  #     DOCKERFILE: predict.Dockerfile
+  #     TRAIN_DOCKERFILE: train.Dockerfile
+  #     TRAIN_ENTRYPOINT_FILE: scripts/train.entrypoint.sh
+  #     ENTRYPOINT_FILE: scripts/predict.entrypoint.sh
+  #     BASE_DOCKERFILE: base.Dockerfile
+  #     MODEL_VERSION_KEY: BL_GENE_TO_EXPRESSION_SITE
+  #     CLASSIFICATION_LABELS: "expressed_in  false"
+  #     DATA_FILE: data/bl_gene_to_expression_site/data.tsv
+  #   steps:
+  #   - uses: actions/checkout@v2
+  #     with:
+  #       fetch-depth: 0
+  #   - name: Get changed files
+  #     id: changed-files
+  #     uses: tj-actions/changed-files@v7
+
+  #   - name: List all modified files
+  #     run: |
+  #       for file in "${{ steps.changed-files.outputs.all_modified_files }}"; do
+  #         echo "$file was modified"
+  #       done
+
+  #   - name: Run step when a file changes
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "A modified file has triggered a rebuild of the ${{ env.TASK_NAME }} predict container."
+
+  #   - name: Set up Cloud SDK
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     uses: google-github-actions/setup-gcloud@main
+  #     with:
+  #       project_id: ${{ secrets.GCE_PROJECT }}
+  #       service_account_key: ${{ secrets.GCE_SA_KEY }}
+  #       version: '290.0.1'
+
+  #   - name: Configure Docker Authentication
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       gcloud --quiet auth configure-docker
+
+  #   - name: Set MODEL_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "MODEL_VERSION=$(grep ${{ env.MODEL_VERSION_KEY }} MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Set BASE_VERSION env
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       echo "BASE_VERSION=$(grep 'BASE' MODEL_VERSIONS | cut -f 2 -d '=')" >> $GITHUB_ENV
+
+  #   - name: Build Docker Image
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker build --build-arg "PROJECT_ID=$PROJECT_ID" \
+  #                    --build-arg "TASK_NAME=$TASK_NAME" \
+  #                    --build-arg "BASE_VERSION=$BASE_VERSION" \
+  #                    --build-arg "TUNED_MODEL_VERSION=$MODEL_VERSION" \
+  #                    --build-arg "MODEL_STORAGE_BUCKET=$MODEL_STORAGE_BUCKET" \
+  #                    --build-arg "CLASSIFICATION_LABELS=${{ env.CLASSIFICATION_LABELS }}" \
+  #                    --tag "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION" \
+  #                    -f ${{ env.DOCKERFILE }} .
+
+  #   - name: Publish Docker Image to Google Container Registry
+  #     if: |
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.TRAIN_ENTRYPOINT_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.BASE_DOCKERFILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.DATA_FILE) ||
+  #       contains(steps.changed-files.outputs.all_modified_files, env.ENTRYPOINT_FILE)
+  #     run: |
+  #       docker push "gcr.io/$PROJECT_ID/$TASK_NAME-predict:$MODEL_VERSION"
\ No newline at end of file
diff --git a/MODEL_VERSIONS b/MODEL_VERSIONS
index 80a83fd9..aac212b8 100644
--- a/MODEL_VERSIONS
+++ b/MODEL_VERSIONS
@@ -1,7 +1,7 @@
 BASE=0.2
 BL_CHEMICAL_TO_DISEASE_OR_PHENOTYPIC_FEATURE=0.1
 BL_CHEMICAL_TO_GENE=0.1
-BL_DISEASE_TO_PHENOTYPIC_FEATURE=0.1
+BL_DISEASE_TO_PHENOTYPIC_FEATURE=0.2
 BL_GENE_REGULATORY_RELATIONSHIP=0.1
 BL_GENE_TO_DISEASE=0.2
 BL_GENE_TO_EXPRESSION_SITE=0.1
diff --git a/data/bl_disease_to_phenotypic_feature/README.md b/data/bl_disease_to_phenotypic_feature/README.md
new file mode 100644
index 00000000..83d3ab8d
--- /dev/null
+++ b/data/bl_disease_to_phenotypic_feature/README.md
@@ -0,0 +1 @@
+The first 524 lines in data.tsv were manually annotated. Lines after 524 were automatically generated based on data mined from the PheKnowLator KG.
diff --git a/data/bl_disease_to_phenotypic_feature/data.tsv b/data/bl_disease_to_phenotypic_feature/data.tsv
index 07494471..b3782350 100644
--- a/data/bl_disease_to_phenotypic_feature/data.tsv
+++ b/data/bl_disease_to_phenotypic_feature/data.tsv
@@ -522,3 +522,113409 @@ ad5c362579d4c2d303e514261b3197a711bbaffbb06c3530ec5bcb9f91db29a6	@PHENOTYPE$ is
 2382909d07d21f195ab2f864218bb6b076044ce795637269f9f32bc7d3e895d6	Even though controversies and "research gaps" are present in literature at this point, we may hypothesize a bidirectional relation between circadian @PHENOTYPE$ and @DISEASE$.	false
 c7bf033aea13584539e7111a5d604d5b80b806e684588c705a937988ba24a226	@PHENOTYPE$ spinocerebellar ataxia (@DISEASE$) type 12 is a rare SCA characterized by a heterogeneous phenotype.	false
 580b3b00c5415490806206865a9c486e21a7c9c364cc07b52fa128f7761eecfe	@DISEASE$ (CD) affects over six million people and is a leading cause of @PHENOTYPE$ in the Americas.	has_symptom
+3084488ba5e623600ab4a1f92a2f0d564267a976	More extensive changes were seen with NMR in cases of hemisphere infarction, systemic lupus erythematosis, herpes encephalitis, @PHENOTYPICFEATURE$ (periventricular oedema) and @DISEASE$.	has_symptom
+5bd083cf5764c5063dce0ce9baa4fbc4449de4a0	More extensive changes were seen with NMR in cases of hemisphere infarction, @PHENOTYPICFEATURE$, herpes encephalitis, hydrocephalus (periventricular oedema) and @DISEASE$.	false
+70275b6698cd079f357c74a330cc9f64d007d51b	More extensive changes were seen with NMR in cases of hemisphere infarction, @PHENOTYPICFEATURE$, herpes encephalitis, @DISEASE$ (periventricular oedema) and Sturge-Weber disease.	false
+eeebc5e5cca53b711e06330c1e43ca91540a884d	Clubfoot deformity associated with congenital @DISEASE$ (CCBS) has different characteristics than classic idiopathic @PHENOTYPICFEATURE$, and is more difficult to treat.	has_symptom
+b257a72e108cc1ce1d2703b428ebf5f48e465bfc	@PHENOTYPICFEATURE$ deformity associated with congenital @DISEASE$ (CCBS) has different characteristics than classic idiopathic clubfoot, and is more difficult to treat.	has_symptom
+bdd0f939141aed9c4d9e8c5810526984192846d7	Resistant @PHENOTYPICFEATURE$ associated with congenital @DISEASE$.	has_symptom
+86dcb899b85054d302204fde990ea2924d49b317	@DISEASE$ syndrome: communication disorder or @PHENOTYPICFEATURE$?	has_symptom
+b34b6ef28ca9f9c8bbf614af8928fdca36c43e6e	Author Correction: @DISEASE$ syndrome: communication disorder or @PHENOTYPICFEATURE$?	has_symptom
+38559f82b228568454a7e4588e1c343f94fe2779	Prospective investigation of @PHENOTYPICFEATURE$ and genotype-phenotype correlations in @DISEASE$ syndrome and SHANK3 deficiency.	has_symptom
+496aecab56b42672d1c5b58b0846d17351fbcccc	Heterozygous SHANK3 mutations are associated with idiopathic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+134faca559374c3edda74c4449d1651018d295b8	Three independent cohorts were evaluated for magnitude and replicability of behavioral endophenotypes relevant to @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c65957bdac72812285e4b686485a3468c550e013	Deletion of shank3 in humans is a monogenic cause of @PHENOTYPICFEATURE$ called @DISEASE$.	has_symptom
+92563c1b7a4715c6b0e625d9991a443a0e2b818e	Patients with @DISEASE$, especially children, can be a challenge for dental professionals, as it is often associated with @PHENOTYPICFEATURE$.	has_symptom
+00ec02145468c2d7c497e8cda467f83b13156276	CLK2 inhibition has been proposed as a potential mechanism to improve @PHENOTYPICFEATURE$ and neuronal functions in @DISEASE$ (PMDS).	has_symptom
+845e88602f86c2eb814ce5d7a4241834f257ed16	SHANK3 mutations are responsible for @DISEASE$ but they are also associated with @PHENOTYPICFEATURE$ and/or intellectual disability.	has_symptom
+93e4375b75521510ade86027b991b5a0aee6d98b	SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+7b64451e6bcbddb1d54946fa727a2ad955eb66eb	SHANK3 mutations are responsible for @DISEASE$ but they are also associated with autism and/or @PHENOTYPICFEATURE$.	false
+32c8ed6135f9b5d4d6b73b59301f135858e2457f	Prospective study of @PHENOTYPICFEATURE$ phenomenology and the behavioural phenotype of @DISEASE$: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.	has_symptom
+6fa3db9445edcad0e35e184c2ecc59c7ada245f0	Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related @PHENOTYPICFEATURE$ conditions: achondroplasia, hypochondroplasia, @DISEASE$ and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type.	has_symptom
+29674206a21c571be5fca8e67935553272244678	@DISEASE$ is a lethal congenital anomaly with @PHENOTYPICFEATURE$.	has_symptom
+1ff048f02ba663f081fc6c066345d43949c3cecb	We present a case of aortic dissection in a @DISEASE$ patient for whom congenital bilateral @PHENOTYPICFEATURE$, coupled with the urgency of the surgery, mitigated against the recommended first-choice techniques.	has_symptom
+99ffece6fc12c8d1b141a92a4cfbc34dc0bb724a	A wide variety of anomalies of the middle and inner ear has been reported in association with @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+bd668546eecba9abc0f5ff743a84b6a628bb4178	A case of @DISEASE$, @PHENOTYPICFEATURE$ and recurrent meningitis due to a round-window fistula is described.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+30ac7240bba58b3f3fb1164c6cc32ae4709cd9d9	Crisis resource management of the airway in a patient with @DISEASE$, @PHENOTYPICFEATURE$, and aortic dissection.	has_symptom
+0424661925280dd92afb74266e605b1752d40e36	Cervico-oculo-acoustic syndrome is an uncommon syndrome consisting of @DISEASE$, @PHENOTYPICFEATURE$, and Duane syndrome.	has_symptom
+a831a8821802022992681bf140cd035fe686bc42	The @DISEASE$ is usually associated with sensorineural hearing impairment, but rarely is it associated with conductive or mixed @PHENOTYPICFEATURE$.	has_symptom
+d2a04cdd63c9bb8add9ca88c0c53cdd5781449d7	The @DISEASE$ is usually associated with @PHENOTYPICFEATURE$, but rarely is it associated with conductive or mixed deafness.	false
+d7275ae8612a03a8d84ad1383b52b92ba6e2cc04	The Klippel-Feil syndrome is usually associated with @PHENOTYPICFEATURE$, but rarely is it associated with conductive or mixed @DISEASE$.	false
+a900a6a2f51914f73a1dc25f0ba2466cfbbdb0df	Wildervanck syndrome (WS) combines features of @DISEASE$ (KFS), sixth nerve palsy, and @PHENOTYPICFEATURE$.	has_symptom
+fb66e850ebaf7c336ff2000e46f583f36cb78dfc	The @DISEASE$ is usually associated with sensorineural deafness and reports of conductive or mixed @PHENOTYPICFEATURE$ are rare.	has_symptom
+3d1e7b4823694ac8d1958d062e072362749b0ed1	The Klippel-Feil syndrome is usually associated with @PHENOTYPICFEATURE$ and reports of conductive or mixed @DISEASE$ are rare.	false
+af491e0282774b7743b9a9c689710f4f0f7e5610	The @DISEASE$ is usually associated with @PHENOTYPICFEATURE$ and reports of conductive or mixed deafness are rare.	false
+5ac39b3606ad54d0f5d2e2289905856cc6e55b82	@DISEASE$ (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with @PHENOTYPICFEATURE$, midface hypoplasia and laryngotrachemomalacia.	has_symptom
+5c27faaf67d65026e4f22e1022000f69529ee025	@DISEASE$ (CD) is a @PHENOTYPICFEATURE$ characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia.	false
+8f041a63e420499e51339ccb3894e35b89ec0a1a	Campomelic dysplasia (CD) is a @PHENOTYPICFEATURE$ characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with @DISEASE$, midface hypoplasia and laryngotrachemomalacia.	false
+02687a018a64a7f6a65f2a83a2e903728caa520c	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, @PHENOTYPICFEATURE$, and micrognathia.	has_symptom
+22c9a2534bc4862f1773c1670c467aa163c3da84	Campomelic dysplasia (CD) is a rare form of @PHENOTYPICFEATURE$ (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, @DISEASE$, and micrognathia.	false
+9060a1c947e1ec6c2197fdb5cd9676c860f25416	Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a625352def37e1f259c0a585e480613f3ae4635a	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @PHENOTYPICFEATURE$, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	false
+341627f35538a3c3c3c516f4e74050727d5cb690	@DISEASE$ (CD) is a rare form of @PHENOTYPICFEATURE$ (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	false
+6ca4f4246e6440c696bd45ba955d8cd8eb9fc210	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and @PHENOTYPICFEATURE$.	false
+eaf095ff6700c9fd60f8e24a63d6a584a6940b35	Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @PHENOTYPICFEATURE$, flattened supraorbital ridges and nasal bridge, @DISEASE$, and micrognathia.	false
+911caabad362a0200c8687e8ae0341a23bf517aa	The most frequent single coding defects were "bulbus cordis anomalies and anomalies of cardiac septal closure (BCA)," "congenital anomalies of urinary system (CUS)," "@PHENOTYPICFEATURE$ and cleft lip (CPL)," and "certain congenital musculoskeletal deformities (@DISEASE$)."	has_symptom
+12c2776453ec8a2dfa1783f77842f425f467b343	The Pierre Robin sequence (PRS), consisting of @PHENOTYPICFEATURE$, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, @DISEASE$ (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.	has_symptom
+826095e54dd0556d3ca07095325cb3b16ff4b8ed	The Pierre Robin sequence (PRS), consisting of @DISEASE$, @PHENOTYPICFEATURE$ and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.	false
+f5e5774f1913ddc5b1761f1ef88807d1fed8ab86	The Pierre Robin sequence (PRS), consisting of cleft palate, @PHENOTYPICFEATURE$ and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, @DISEASE$ (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.	false
+32f427f57abd71b6d94a37af6c1f4937d1b22415	A case report of @DISEASE$ and operative difficulties in @PHENOTYPICFEATURE$ reconstruction.	has_symptom
+100133d8d9ef3a3636b96ba1c569ce58398e1d91	Epilepsy has been reported in patients with @PHENOTYPICFEATURE$ (PDD), with an incidence ranging from 5% to 40%; however most of the studies included patients with brain magnetic resonance imaging (MRI) abnormalities (e.g., @DISEASE$) and patients with epilepsy whose seizure onset was in the first year of life.	has_symptom
+1164b3fe1bfc60cc06e4228baea4ae023909558f	Epilepsy has been reported in patients with pervasive developmental disorder (PDD), with an incidence ranging from 5% to 40%; however most of the studies included patients with brain magnetic resonance imaging (MRI) abnormalities (e.g., @DISEASE$) and patients with epilepsy whose @PHENOTYPICFEATURE$ onset was in the first year of life.	false
+f2daa62738209352a0b8fff775c033ca850c2241	Epilepsy has been reported in patients with @DISEASE$ (PDD), with an incidence ranging from 5% to 40%; however most of the studies included patients with brain magnetic resonance imaging (MRI) abnormalities (e.g., tuberous sclerosis) and patients with epilepsy whose @PHENOTYPICFEATURE$ onset was in the first year of life.	false
+36391600bebe27816e65418b2a9aa0fd44679e1c	@PHENOTYPICFEATURE$ and obstetric complications in children and adolescents with @DISEASE$.	has_symptom
+c5a7c93bdcc6033ea392d464f56d0378f03acf7f	Autism and @PHENOTYPICFEATURE$ (PDD) are common in @DISEASE$ (TSC).	has_symptom
+675bd3d816e98fb25b8ad16b17160870847a0106	@PHENOTYPICFEATURE$ and @DISEASE$ (PDD) are common in tuberous sclerosis (TSC).	false
+63879f9a8602905be6640c91bdf595e31d037347	@PHENOTYPICFEATURE$ and pervasive developmental disorders (PDD) are common in @DISEASE$ (TSC).	false
+f95071b6b1cfac5c940d5537cedf4a2d16be179d	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in autism and other @PHENOTYPICFEATURE$, 41 children with autism, and a comparison group of 21 children with @DISEASE$ (TSC) or an unspecified seizure disorder were studied.	has_symptom
+6e4c28c923cb05880b9df4da74fb5824195b3d7b	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in autism and other pervasive developmental disorders, 41 children with @PHENOTYPICFEATURE$, and a comparison group of 21 children with tuberous sclerosis complex (TSC) or an unspecified @DISEASE$ were studied.	false
+b8fc202ef40aefe3fd3c611b9edf11c0d8edd433	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in autism and other pervasive developmental disorders, 41 children with @PHENOTYPICFEATURE$, and a comparison group of 21 children with @DISEASE$ (TSC) or an unspecified seizure disorder were studied.	false
+f4b3683b4d42a1e1cce9cc69f03e551a82e4fcb6	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in autism and other @DISEASE$, 41 children with @PHENOTYPICFEATURE$, and a comparison group of 21 children with tuberous sclerosis complex (TSC) or an unspecified seizure disorder were studied.	false
+86d98a209342a2b886a626629c7ee6498732a24a	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in @PHENOTYPICFEATURE$ and other @DISEASE$, 41 children with autism, and a comparison group of 21 children with tuberous sclerosis complex (TSC) or an unspecified seizure disorder were studied.	false
+27a0b44201c5d739db863ddad88ab7122456e560	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in @PHENOTYPICFEATURE$ and other pervasive developmental disorders, 41 children with autism, and a comparison group of 21 children with tuberous sclerosis complex (TSC) or an unspecified @DISEASE$ were studied.	false
+c0fe841ecd63b1222526ef095e844797000a516c	To assess the prevalence of macrocephaly (head circumference > or = 1.88 standard deviations above normative data for age and sex or > 97th centile) in @PHENOTYPICFEATURE$ and other pervasive developmental disorders, 41 children with autism, and a comparison group of 21 children with @DISEASE$ (TSC) or an unspecified seizure disorder were studied.	false
+350d74dbb8db35a9e7e539af5467433987449fbc	The case of a child with a @PHENOTYPICFEATURE$ secondary to @DISEASE$ is presented.	has_symptom
+0cf6da5e37621d3eb25ece882a677a1eb810faf9	The siblings share some features of @DISEASE$, including feeding difficulties, microcephaly, and @PHENOTYPICFEATURE$.	has_symptom
+92b5bab3484e7cf4a844863214f79ee6074f5906	The siblings share some features of @DISEASE$, including feeding difficulties, @PHENOTYPICFEATURE$, and speech delay.	false
+f6263e2173e6a92b8a61f9e56dcd42f4be035940	The siblings share some features of Ohdo syndrome, including feeding difficulties, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+be5f3518583b5524240de51cba993204092a9085	We describe a young girl suffering from the @DISEASE$ with @PHENOTYPICFEATURE$ and inner ear dysplasia.	has_symptom
+d50d0263e00d236220d9b24d5ea5957d13a46f52	@DISEASE$ with extremely @PHENOTYPICFEATURE$: growth hormone deficiency may be the pathogeny.	has_symptom
+f51db3ab027a83fe23dce27abcde3eaac80be537	These two cases may lead us to think that besides the @DISEASE$, the HSS is also an entity to be taken into consideration in a young patient with movement disorder, @PHENOTYPICFEATURE$ and progressive course.	has_symptom
+cb26391a6c2f14caf91e030f3f342de4cca92554	These two cases may lead us to think that besides the @DISEASE$, the HSS is also an entity to be taken into consideration in a young patient with @PHENOTYPICFEATURE$, mental deterioration and progressive course.	false
+0a877f0a8cb76ba7ea18c85b3df36f6545e42fb5	These two cases may lead us to think that besides the Huntington Disease, the HSS is also an entity to be taken into consideration in a young patient with @PHENOTYPICFEATURE$, @DISEASE$ and progressive course.	false
+001ddfbda79481248542de1a741084f80ac81807	Benign hereditary chorea (BHC) is an autosomal dominant disorder that can be distinguished from @DISEASE$ by its early onset, stable or only slightly progressive course, and absence of @PHENOTYPICFEATURE$.	has_symptom
+492062db07c0ca433185245f187cef85e2c69b1d	Together, these results identify a role for Fgfr2 in development of the middle ear skeletal tissues and suggest potential causes for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f04a0d502eb76817c1b2400e9fb83520698f5a9d	@DISEASE$ (CIDP) is an immune mediated treatable @PHENOTYPICFEATURE$, the diagnosis of which is straightforward in more than half of cases.	has_symptom
+f04a0d502eb76817c1b2400e9fb83520698f5a9d	@DISEASE$ (CIDP) is an immune mediated treatable @PHENOTYPICFEATURE$, the diagnosis of which is straightforward in more than half of cases.	has_symptom
+862f1541a19ba46fe3260c79c7c3c7bddf76ab75	@DISEASE$ (CIDP) is a chronically progressing or relapsing disease caused by immune-mediated @PHENOTYPICFEATURE$.	has_symptom
+752b9c858ed5c4c4b1f11c9264d878241f8c296e	@DISEASE$ is a @PHENOTYPICFEATURE$ caused by peripheral nerve inflammation probably due to autoimmunity and would be expected to benefit from corticosteroids.	has_symptom
+fe202e22cc9f2aa595f29ba8e922409936000433	@DISEASE$ (CIDP) is probably the best recognized progressive immune-mediated @PHENOTYPICFEATURE$.	has_symptom
+c2e0cdf34dc3a458c9a4aa08b159bc14a0c3ec14	@DISEASE$ (CIDP) is a disorder characterized by a symmetrical, sensorimotor involvement and slowly progressive onset @PHENOTYPICFEATURE$.	has_symptom
+5df99b1cf903a7099fc35c23a52b3da953e651f2	[@DISEASE$ with autoimmune abnormalities and @PHENOTYPICFEATURE$ (author's transl)].	has_symptom
+3ea6374237eae34e0aef71e0447857ab15821af1	Studies of a @PHENOTYPICFEATURE$ boy, clinically suffering from @DISEASE$, are reported.	has_symptom
+ef6204204c02b08ca7e2f8378df2a9f954b3a2fd	Abnormal dysmyelination constitutes a pathoanatomic basis for the @PHENOTYPICFEATURE$ in two different aminoacidopathies, @DISEASE$ and ketotic hyperglycinemia.	has_symptom
+9e3866fc800c023a4f0c7abd286470d2ddbebf4c	@DISEASE$ is a neurometabolic disorder characterized by @PHENOTYPICFEATURE$, seizures, and spasticity.	has_symptom
+b0101c7ff72ed80b88d5b9993fcf5bc060792c1e	Nonketotic hyperglycinemia is a neurometabolic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and spasticity.	false
+602ed8a70eaf58d15a801d7bd6f3ac9ba159ae24	@DISEASE$ is a neurometabolic disorder characterized by intellectual disability, seizures, and @PHENOTYPICFEATURE$.	false
+e067a14f2cf7ff9e6bccc011be733527015b4a97	@DISEASE$ is a neurometabolic disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, and spasticity.	false
+420aaca634bcd78675303ac3488cdf07700ae858	Nonketotic hyperglycinemia is a neurometabolic disorder characterized by @DISEASE$, seizures, and @PHENOTYPICFEATURE$.	false
+12855b7b6be61f7024f4bc6f1768e07e5bdb56ea	This report describes a patient with mild language delay and @PHENOTYPICFEATURE$, who was found to have @DISEASE$ following her presentation with acute encephalopathy and chorea shortly after initiation of valproate therapy.	has_symptom
+5e2294e99a881edf1586a75add974580d2d0a535	This report describes a patient with mild @PHENOTYPICFEATURE$ and @DISEASE$, who was found to have nonketotic hyperglycinemia following her presentation with acute encephalopathy and chorea shortly after initiation of valproate therapy.	false
+df98004ecb26e9ff5e15110f37dac61db9862e8c	This report describes a patient with mild @PHENOTYPICFEATURE$ and mental retardation, who was found to have @DISEASE$ following her presentation with acute encephalopathy and chorea shortly after initiation of valproate therapy.	false
+bf40049959f5d8e09e20a32a8ce883621287b5f6	@DISEASE$ is a necrotizing lymphadenitis, mainly characterized by lymphadenopathy, fever, hepatosplenomegaly, nocturnal sweats, myalgia, @PHENOTYPICFEATURE$, and arthralgia.	has_symptom
+2b79a9a1e12ad7d106f386f319841c16bf326a12	Kikuchi-Fujimoto disease is a necrotizing lymphadenitis, mainly characterized by lymphadenopathy, @PHENOTYPICFEATURE$, hepatosplenomegaly, nocturnal sweats, myalgia, @DISEASE$, and arthralgia.	false
+6cb9399eb53b8678ec38bc7792f51437f6872df1	@DISEASE$ is a necrotizing lymphadenitis, mainly characterized by lymphadenopathy, @PHENOTYPICFEATURE$, hepatosplenomegaly, nocturnal sweats, myalgia, weight loss, and arthralgia.	false
+957912632858294bbfb6434ba1e71784a2a7b4c3	We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); @DISEASE$ due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or @PHENOTYPICFEATURE$ and brain damage.	has_symptom
+451beac4ac3eda39c5b2665942900e5433f6c259	We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); @DISEASE$ due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal @PHENOTYPICFEATURE$ and/or seizures and brain damage.	false
+53cbc42fbfe0054f070f42ce902f27a546535153	We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal @PHENOTYPICFEATURE$ and/or @DISEASE$ and brain damage.	false
+dde67f8804f9245be6b8c9f5d77b86692ed3e67b	@DISEASE$ should be considered in patients with diabetes, @PHENOTYPICFEATURE$ and anaemia who present with a scaling rash, the histology of which shows suprabasal acantholysis.	has_symptom
+d0d365f02896d66e38bc2a2e9f5257e0c0f04802	Seven patients with clinical features of the @DISEASE$, including the characteristic rash, diabetes mellitus, and @PHENOTYPICFEATURE$, were examined by CT.	has_symptom
+20650ad0a31a10d38810998ee4e0ad94bafda3fc	The @DISEASE$ is associated with a skin rash, stomatitis, anaemia, glucose-intolerance, hypoaminoacidaemia, @PHENOTYPICFEATURE$, elevated sedimentation rate and hyperglucagonaemia.	has_symptom
+ebbc5cf750a2eadac0083dbc038869d46646e574	The glucagonoma syndrome is associated with a @PHENOTYPICFEATURE$, stomatitis, anaemia, glucose-intolerance, hypoaminoacidaemia, @DISEASE$, elevated sedimentation rate and hyperglucagonaemia.	false
+89fa397449e00b7beb6794fe1c64c8394710d506	The @DISEASE$ is associated with a @PHENOTYPICFEATURE$, stomatitis, anaemia, glucose-intolerance, hypoaminoacidaemia, weight loss, elevated sedimentation rate and hyperglucagonaemia.	false
+ea9064a1e61f1cb0a928c494bed09332fa081674	@DISEASE$ is a neuroendocrine tumor of pancreatic alpha cells manifested by necrolytic migratory erythema, hyperglucagonemia, glucose intolerance, @PHENOTYPICFEATURE$, anemia and hypopaminoacidemia.	has_symptom
+0647b7ad3e61215095c379301b52c59e1ea6e366	Glucagonoma is a neuroendocrine tumor of pancreatic alpha cells manifested by necrolytic migratory erythema, hyperglucagonemia, glucose intolerance, @DISEASE$, @PHENOTYPICFEATURE$ and hypopaminoacidemia.	false
+2cd06336a9f28efa401670ed828b1b9aad27f55d	Glucagonoma is a @DISEASE$ of pancreatic alpha cells manifested by necrolytic migratory erythema, hyperglucagonemia, glucose intolerance, weight loss, @PHENOTYPICFEATURE$ and hypopaminoacidemia.	false
+10c75931edc74b505c1f6ffe641c3a059b420231	@DISEASE$ is a neuroendocrine tumor of pancreatic alpha cells manifested by necrolytic migratory erythema, hyperglucagonemia, glucose intolerance, weight loss, @PHENOTYPICFEATURE$ and hypopaminoacidemia.	false
+35e29c022b904d11ebdb8a5b786411bbf4fd05ed	The @DISEASE$ is a rare disorder, characterized by necrolytic migratory erythema, elevated serum glucagon levels, abnormal glucose tolerance, @PHENOTYPICFEATURE$, and anemia in association with a glucagon-secreting alpha-cell tumor of the pancreas.	has_symptom
+3de36eba3cb48e8ef53b8f809014336f41c3087c	The clinical syndrome classically associated with @DISEASE$ includes necrolytic migratory erythema, @PHENOTYPICFEATURE$, diabetes mellitus, anemia, cheilitis, venous thrombosis, and neuropsychiatric symptoms.	has_symptom
+a215c2d5b5a3683326431d5c5ced94623b62af0f	A 63 year old man presented with features of the @DISEASE$, that is thromboembolic disease, @PHENOTYPICFEATURE$, raised sedimentation rate, diabetes mellitus, hypoproteinaemia and reduced plasma amino acid levels, but without necrolytic migratory erythema.	has_symptom
+882714408c89a355a22c719318425b1bdef244b6	The @DISEASE$ is characterized by a necrolytic migratory erythematous rash, angular stomatitis, painful glossitis, a normochromic normocytic anemia, mild diabetes mellitus, @PHENOTYPICFEATURE$, a tendency to thrombosis, and neuropsychiatric disturbances.	has_symptom
+ec950b2e2a98eb27576a048894892b2ae27c5c4c	A 60-year-old patient developed signs and symptoms of @DISEASE$ (dermatitis, @PHENOTYPICFEATURE$, anemia and hypoaminoacidemia).	has_symptom
+01bcf3042d43bce54059c876f252f7b89ca5232b	@DISEASE$ is an endocrine tumor of almost exclusively pancreatic origin which is rarely associated with a clinical syndrome mainly characterized by migratory necrolytic erythema, hyperglycemia, @PHENOTYPICFEATURE$, hypoaminoacidemia and anemia.	has_symptom
+b115d548630a372cad9fb276c3fdcec2525a5654	A significant increase of complement activation was associated with different pathologic pregnancy outcomes, namely pre-eclampsia, recurrent spontaneous abortions, intra-uterine @PHENOTYPICFEATURE$, and anti-phospholipid syndrome (@DISEASE$).	has_symptom
+672d127eef093f9cdb140c9ba37d7090c137da14	Autoantibodies from sera of SLE/APS patients affect reproductive outcome in pregnant mice, as was studied in vivo, where injection of immunoglobulin (Ig)G purified from patients with @DISEASE$ to mice caused fetal resorptions and @PHENOTYPICFEATURE$.	has_symptom
+7286c281ab45f011d1becd5c5a3e9d3a8d743027	Autoantibodies from sera of SLE/@DISEASE$ patients affect reproductive outcome in pregnant mice, as was studied in vivo, where injection of immunoglobulin (Ig)G purified from patients with APS to mice caused fetal resorptions and @PHENOTYPICFEATURE$.	has_symptom
+02b2678ffd1d36aaccb65d8d0e073bf83b660561	While antigenic epitopes recognized by aPL antibodies are important in the pathogenesis of @DISEASE$, our data show that in vivo complement activation is required for aPL antibody-induced fetal loss and @PHENOTYPICFEATURE$.	has_symptom
+45a12d810d51bb5cecf5ed0140d5112504bb23b2	MIDs due to mutations of the nuclear DNA, which develop @PHENOTYPICFEATURE$ include LS, SANDO, SCAE, AHS, XSLA/A, IOSCA, MIRAS, MEMSA, or @DISEASE$ syndrome.	has_symptom
+26c3f75fc5de15b0619668f857ae58de792cf9d3	@DISEASE$ (PKD) is one of the most prevalent causes of heritable @PHENOTYPICFEATURE$.	has_symptom
+b0831b716b1023590911218e89f922b7a7eae18d	Electron microscopic study of @PHENOTYPICFEATURE$ in a case of @DISEASE$.	has_symptom
+5d7784bfc62c3d2ef560a574dc05c64a186f4598	Successful pregnancy in a patient with @DISEASE$ and advanced @PHENOTYPICFEATURE$ without prophylactic dialysis.	has_symptom
+4864ddb389769d63fa9190c3250acf13e3b1d4dd	Hereditary @DISEASE$ (PKD) is a common cause of @PHENOTYPICFEATURE$.	has_symptom
+23497e0caf728edd3069bd48def2ef1b3bcc9d20	Renal histology in @DISEASE$ with incipient and advanced @PHENOTYPICFEATURE$.	has_symptom
+143fdcee6a7ec6a12e84e0302d80302772c484f7	@PHENOTYPICFEATURE$ was most commonly due to @DISEASE$ or glomerulonephritis.	has_symptom
+dc3dbde3d3197606c816e48e7223e4ace4159e9d	Hypertension in @DISEASE$ without @PHENOTYPICFEATURE$.	has_symptom
+d17d3f649c2e301f7cea25e81a5094327a5267f8	@DISEASE$, renal carcinoma and @PHENOTYPICFEATURE$, although rare, occur in TSC.	has_symptom
+a50fb34aa56a4192d432fff64e7a4f0a0652119a	We report a patient with @DISEASE$, advanced @PHENOTYPICFEATURE$, and nephrotic-range proteinuria.	has_symptom
+a1ad04051f73cdb9a194fd2406da0947198645dd	@DISEASE$ is an inherited disorder of parenchymal structure that leads to @PHENOTYPICFEATURE$.	has_symptom
+f26d6d6e010085e61656ef2d46ea125fa26b879f	(1) The clinical features of patient with @DISEASE$ included slowly progressive cerebellar ataxia and @PHENOTYPICFEATURE$, the neurologic dysfunction involving the legs more than the arms, and with characteristic abnormalities observed on brain and spinal cord MRI.	has_symptom
+d13ab7aa201644de390531b53d2b394f2e9dc65b	The combination of @PHENOTYPICFEATURE$ and fixed dilated pupils in infancy is suspicious of @DISEASE$.	has_symptom
+5f0b913797ea46031f74370d449b0b6456793c90	Familial cold autoinflammatory syndrome (@DISEASE$) is caused by mutations in the CIAS1 gene, leading to excessive secretion of interleukin-1beta (IL-1beta), which is associated with cold-induced fevers, @PHENOTYPICFEATURE$, and systemic inflammation.	has_symptom
+bbeb270736ec4305df6b90bf49db9dc9bf17fc65	@DISEASE$ (FCAS) is caused by mutations in the CIAS1 gene, leading to excessive secretion of interleukin-1beta (IL-1beta), which is associated with cold-induced fevers, @PHENOTYPICFEATURE$, and systemic inflammation.	has_symptom
+119d00af27953e98d8b21a9bcafd7c36cd779a05	We describe an oligosymptomatic patient with @DISEASE$ (thymoma and @PHENOTYPICFEATURE$) in who a follow-up chest computed tomography showed circumferential tracheobronchial wall thickening.	has_symptom
+bd24ed857a0aad9c7aa5ad38dc6f30389a0eca13	Absence of PAX6 gene mutations in @DISEASE$ (partial aniridia, @PHENOTYPICFEATURE$, and mental retardation).	has_symptom
+9571efa24e64966e7a4ebf7810a5401738a5e704	Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+91e3075a4536ed8082619255e2ae2217ecbd800c	Absence of PAX6 gene mutations in Gillespie syndrome (partial @DISEASE$, cerebellar ataxia, and @PHENOTYPICFEATURE$).	false
+966b6fc7db9e216d10a1711015a9861e44818acf	Absence of PAX6 gene mutations in @DISEASE$ (partial aniridia, cerebellar ataxia, and @PHENOTYPICFEATURE$).	false
+697a9737c00d710db18ea57cbedcac8b9e2abd1d	@DISEASE$ is the phenotype partial aniridia, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+fbe94a6422f67bfd8c0e5ff0cee80430423c99f6	Gillespie syndrome is the phenotype partial @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+5818e0d5599525b4af8147c49f345c9b3ade6bc6	@DISEASE$ is the phenotype partial aniridia, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+9053ca30669c30f9e60fbffdcf5033419f660321	Gillespie syndrome is the phenotype partial aniridia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8284cd8b1cd672118816002afe4719c7619e2421	Syndrome of partial aniridia, @PHENOTYPICFEATURE$, and mental retardation--@DISEASE$.	has_symptom
+1561aa71de9d80e6469fbf265303fc51643f639e	Syndrome of partial @DISEASE$, cerebellar ataxia, and @PHENOTYPICFEATURE$--Gillespie syndrome.	false
+aacf0c716dec5c419e43e8e6447586ede93b3401	Syndrome of partial aniridia, @DISEASE$, and @PHENOTYPICFEATURE$--Gillespie syndrome.	false
+7ae7fc1db63f612dafdefa4b7ebe255a284b86d7	Syndrome of partial aniridia, cerebellar ataxia, and @PHENOTYPICFEATURE$--@DISEASE$.	false
+c8151024168cbddc4f3376dce2dc2d3ba26dd677	@DISEASE$ (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+91aacba811575c448993105969956720e358346e	Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+391ccae362cb664c1be94e27a3fd85ec8895ccc1	@DISEASE$ (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+44ebcfd2acbe08b39bc8d2f60c45aaf8e1d45b71	We report here the case of a patient suffering from @DISEASE$ (GS) (partial aniridia, mental retardation, and @PHENOTYPICFEATURE$).	has_symptom
+208b403de886864095ef0c8fb8cab87eaab429a7	We report here the case of a patient suffering from Gillespie syndrome (GS) (partial aniridia, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+762fd1adfedaf88a0b89df59d426b79bcf200832	We report here the case of a patient suffering from Gillespie syndrome (GS) (partial @DISEASE$, @PHENOTYPICFEATURE$, and cerebellar ataxia).	false
+e78cf1fe4e02b7cf143a87dc4312faccf4880251	We report here the case of a patient suffering from @DISEASE$ (GS) (partial aniridia, @PHENOTYPICFEATURE$, and cerebellar ataxia).	false
+daddea7cf3cacdc9f93363378849693cab09ffcb	Here we describe a 5-year-old girl with @DISEASE$ of @PHENOTYPICFEATURE$, partial aniridia, and mental retardation.	has_symptom
+24d29acde679c54fa913bea62ef0c8f62ada8d09	Here we describe a 5-year-old girl with @DISEASE$ of cerebellar ataxia, partial @PHENOTYPICFEATURE$, and mental retardation.	false
+88112a8f126198d7f2378871c920a92a1cf4f8a5	Here we describe a 5-year-old girl with @DISEASE$ of cerebellar ataxia, partial aniridia, and @PHENOTYPICFEATURE$.	false
+fe23b86cfb6b32d2ecc053944c1311fa87193c7c	Here we describe a 5-year-old girl with Gillespie syndrome of @DISEASE$, partial aniridia, and @PHENOTYPICFEATURE$.	false
+2ab0c75f40f6d9a6e522f8b8eb50dd006287d5b0	Here we describe a 5-year-old girl with Gillespie syndrome of @DISEASE$, partial @PHENOTYPICFEATURE$, and mental retardation.	false
+6e840cdd43fd78cb6321f61b886df350aa4238e3	Partial aniridia, @PHENOTYPICFEATURE$, and mental deficiency (@DISEASE$) in two brothers.	has_symptom
+d02d751903af0d2ac236ce720f930388c6515962	Partial @DISEASE$, cerebellar ataxia, and @PHENOTYPICFEATURE$ (Gillespie syndrome) in two brothers.	false
+63b6174038086109690994414c9b7756ad465592	Partial aniridia, cerebellar ataxia, and @PHENOTYPICFEATURE$ (@DISEASE$) in two brothers.	false
+04e37e4fd947401820ae2c60ce1e64f1571dc2f2	Partial aniridia, @DISEASE$, and @PHENOTYPICFEATURE$ (Gillespie syndrome) in two brothers.	false
+af265f107873c0528f28d4d4a516aae603380c82	@DISEASE$, partial aniridia, @PHENOTYPICFEATURE$ and mental retardation in mother and daughter.	has_symptom
+f1eb59eddcdb811a4ec550ec0ec71dbf10942b72	@DISEASE$, partial aniridia, cerebellar ataxia and @PHENOTYPICFEATURE$ in mother and daughter.	false
+b62cf244923af67973929ec3b87b08124a7502b9	Gillespie syndrome, partial @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$ in mother and daughter.	false
+b075587d25b1dde39f3b9fd400849ac6e028b198	Gillespie syndrome, partial aniridia, @DISEASE$ and @PHENOTYPICFEATURE$ in mother and daughter.	false
+2ae976aeae528cf79d9fc6d79017d16c2e2cefae	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$, and intellectual disability.	has_symptom
+7d09824b089af2e40108666e637eb4555b5f8204	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive @DISEASE$, and @PHENOTYPICFEATURE$.	false
+593099dc0364ddb5839aa1a7819e7f20ed897015	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and intellectual disability.	false
+c17e12cab2217f4fd8ddd6baa0f3ab938c86c5cc	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and @PHENOTYPICFEATURE$.	false
+348ef44afb8810aa1320546e872ed535a045e93e	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive @DISEASE$, and intellectual disability.	false
+c35dc00eae32c324bf9609bace470a6be84e9b90	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and @PHENOTYPICFEATURE$.	false
+97dcfe186fe6ac4a375948bae731b8a47676be65	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and intellectual disability.	false
+a27354c4239d1ddb8cb2ae772e3a816c00289197	[@DISEASE$ (incomplete aniridia, @PHENOTYPICFEATURE$ and oligophrenia)].	has_symptom
+c4a4bcdd14fc3bee9bb5bfbe44ec2087873987d3	A number of conditions have been found to be associated with the HLA-B27 locus including ankylosing spondylitis, psoriatic spondylitis, @DISEASE$, juvenile @PHENOTYPICFEATURE$, and others.	has_symptom
+564ec6ddf0309fa6795714f0ac318d7a17af38ac	Arthritis in children has many causes and includes septic and viral @PHENOTYPICFEATURE$, @DISEASE$ and juvenile idiopathic arthritis (JIA).	has_symptom
+e74b6b26218f08712281273554979da3af1617b4	In the differential diagnosis of infection-related arthritis (infectious arthritis, viral @PHENOTYPICFEATURE$, @DISEASE$ or Reiter's syndrome, Lyme disease) various laboratory methods are applied for the detection of the inciting antigen, specific antibodies or microbe-specific T-lymphocytes.	has_symptom
+f9b773e7f639ed56c36223ade3e3ccb75ad05bef	In the differential diagnosis of infection-related arthritis (infectious arthritis, viral @PHENOTYPICFEATURE$, reactive arthritis or @DISEASE$, Lyme disease) various laboratory methods are applied for the detection of the inciting antigen, specific antibodies or microbe-specific T-lymphocytes.	has_symptom
+61ab04b92edaf015b5f4f2562120433ffe62cd20	The study analyzed serum hyaluronidase and deoxyribonuclease activity in patients with early @PHENOTYPICFEATURE$--early rheumatoid arthritis and acute @DISEASE$.	has_symptom
+6e7d04bcfb1ef1c45acd758bca5a49a0260d4faf	Diagnoses in 4 patients were established on a repeated clinicolaboratory and x-ray study: ankylosing spondylitis, @DISEASE$, Yersinia @PHENOTYPICFEATURE$ and gonorrheal arthritis.	has_symptom
+c5ce8747b910b9443e6705c9c329a68df621abba	BCG infusion therapy was terminated because of the appearance of @DISEASE$, including @PHENOTYPICFEATURE$ of the left toe joint, conjunctivitis and non-gonococcal urethritis as complications.	has_symptom
+88ec30a6ab7033a8d3aa6ef68f114abdfd612e5d	To study the prevalence of different serotypes of Chlamydia trachomatis antibodies and the incidence of C. trachomatis-induced @DISEASE$ (ReA) among patients with early @PHENOTYPICFEATURE$ in a defined population.	has_symptom
+bb2286eb52c2dbd1cdbbef6fa62b9e75782fd5da	The term 'spondyloarthritides' (SpA) comprises ankylosing spondylitis (AS), @DISEASE$, arthritis/spondylitis with inflammatory bowel disease, and @PHENOTYPICFEATURE$/spondylitis with psoriasis.	has_symptom
+13a17e6c90a69741897944b478ade8a1c1e3809d	The term 'spondyloarthritides' (SpA) comprises ankylosing spondylitis (AS), @DISEASE$, @PHENOTYPICFEATURE$/spondylitis with inflammatory bowel disease, and arthritis/spondylitis with psoriasis.	has_symptom
+013335124f8fda1bef11b32e7dc6d191e94ffe24	Possession of the antigen HLA B27 affects severity and prognosis of the @PHENOTYPICFEATURE$ and is more often associated with spondylitis and @DISEASE$.	has_symptom
+e50d797f8621f8f25b731da8dfdb4d201d8abcb1	@DISEASE$ is an uncommon cause of childhood @PHENOTYPICFEATURE$ and aortic incompetence is extremely rare in these patients.	has_symptom
+5d21e413a00b80cf2aeba863ae198673b877ec2c	@DISEASE$ (NKH) is an inborn error of glycine degradation causing @PHENOTYPICFEATURE$, seizures, apnea, and lethargy; it has a poor prognosis.	has_symptom
+83b88415ba71756b86a4c68e7761095006e87884	The effectiveness of benzoate in the management of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+564ee751cfe35b2a65912b18e3221cbaf0ebb9c9	An asphyxiated neonate with pyridoxine-dependent @PHENOTYPICFEATURE$ and associated transient @DISEASE$ is reported.	has_symptom
+177ddb616be1db42cb3c614f35bf565c93b29c80	Patients affected by @DISEASE$ (NKH) usually present severe neurological symptoms and suffer from acute episodes of intractable @PHENOTYPICFEATURE$ with leukoencephalopathy.	has_symptom
+83130a0c51b3cd34bff7f2d05bab7aad6211df47	@DISEASE$ as the cause of infant @PHENOTYPICFEATURE$--the case study.	has_symptom
+0106d1be7c3ddf7601261d7ae2e219611c8663a2	Patients with @DISEASE$ generally have intractable @PHENOTYPICFEATURE$ that are poorly responsive to anticonvulsant medication.	has_symptom
+e067a14f2cf7ff9e6bccc011be733527015b4a97	@DISEASE$ is a neurometabolic disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, and spasticity.	has_symptom
+602ed8a70eaf58d15a801d7bd6f3ac9ba159ae24	@DISEASE$ is a neurometabolic disorder characterized by intellectual disability, seizures, and @PHENOTYPICFEATURE$.	false
+9e3866fc800c023a4f0c7abd286470d2ddbebf4c	@DISEASE$ is a neurometabolic disorder characterized by @PHENOTYPICFEATURE$, seizures, and spasticity.	false
+06688ddb41116c712389900420ef58c310be78f2	Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0136ec8db4452002124a650733177110fc2999b6	Nonketotic hyperglycinemia is a neurometabolic disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and spasticity.	false
+349f116d4514fde7dbd0256bff0657c03a6c2415	This is a report of the neonatal form of @DISEASE$ with rapid progressing neurological symptoms, respiratory distress and @PHENOTYPICFEATURE$.	has_symptom
+4ca68a44f1b52f4ec7d19289a2a5a67f287b47df	Paradoxical increase in @PHENOTYPICFEATURE$ frequency with valproate in @DISEASE$.	has_symptom
+77d3dfadfac3f417cdd158084cc8acbd35b1112d	Transient @DISEASE$ in an asphyxiated patient with pyridoxine-dependent @PHENOTYPICFEATURE$.	has_symptom
+f9d4f10ff43da340d01652f7816a3be40aaa1d77	Two female infants with @DISEASE$ (NKH) were treated with diazepam for the control of @PHENOTYPICFEATURE$.	has_symptom
+6855a1dd5bf0a202b6d74c3f0106eb6ab26572a7	Amyloid nephropathy is an unusual manifestation of hereditary @DISEASE$ and may present with proteinuria and progressive @PHENOTYPICFEATURE$.	has_symptom
+d16c50aaf6dee6b553a107be75abcde421c0a16b	@DISEASE$ (RS) is a @PHENOTYPICFEATURE$ with cognitive and neuromotor impairments (including loss of handiness and loss of communicative skills).	has_symptom
+907f1a423dce3dd01062b5e07951d9d114ad7bac	Autism spectrum disorder (ASD) is one of many @PHENOTYPICFEATURE$ (PDD); others include @DISEASE$, childhood disintegrative disorder (also known as Heller's syndrome), pervasive developmental disorder not otherwise specified (PDD-NOS), and the higher functioning Asperger's syndrome.	has_symptom
+fd8a1d001a3eac563a1b0407dc882dc13fc2acc7	Autism spectrum disorder (ASD) is one of many pervasive developmental disorders (PDD); others include @DISEASE$, childhood disintegrative disorder (also known as Heller's syndrome), @PHENOTYPICFEATURE$ not otherwise specified (PDD-NOS), and the higher functioning Asperger's syndrome.	has_symptom
+dc6a1bc3ee19770f5f033853eaff2e472d735b2a	@DISEASE$ (RTT) is a @PHENOTYPICFEATURE$ caused by mutations in MECP2.	has_symptom
+f5368c7939bce4213d3cb3cfa938269edec286b9	@DISEASE$ (RTT) is a @PHENOTYPICFEATURE$ that is progressive and has no effective cure.	has_symptom
+759f6e6be13dce126ad5a7e0542549ee9d8dd9a5	@DISEASE$ (RTT) is a @PHENOTYPICFEATURE$, primarily affecting girls with a prevalence of 1 in every 10,000 births.	has_symptom
+54dbf2c829c665d93986ed6838f649526da9857d	@PHENOTYPICFEATURE$ is a classification covering five related conditions including the neurodevelopmental disorder @DISEASE$ (RTT) and autism.	has_symptom
+be75c2284ade33dbad3e45afcb54a30721736335	@DISEASE$ is a classification covering five related conditions including the neurodevelopmental disorder Rett syndrome (RTT) and @PHENOTYPICFEATURE$.	false
+c8113637907f9955cc064ebb329825336f1759d2	Pervasive developmental disorder is a classification covering five related conditions including the neurodevelopmental disorder @DISEASE$ (RTT) and @PHENOTYPICFEATURE$.	false
+55c915723e2fa1ab5b87ce6219ca0cc611772570	@DISEASE$ (RTT) is a @PHENOTYPICFEATURE$, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene.	has_symptom
+69f9adad04b7d5989799bf9299aad8420c9a5812	The five types included in ASD are: Asperger syndrome, @PHENOTYPICFEATURE$-not otherwise specified (PDD-NOS), typical autism, @DISEASE$ and childhood disintegrative disorder (CDD).	has_symptom
+fa5356ef4b3e0f1a703eed41924da067926740a3	The five types included in ASD are: @DISEASE$, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and childhood disintegrative disorder (CDD).	false
+105449ccdc75f9c5b9a7daca0677b282e65bb37f	The five types included in @DISEASE$ are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and childhood disintegrative disorder (CDD).	false
+a71afe904c8f60e065f645f4c5587344c6239337	The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and @DISEASE$ (CDD).	false
+2af7b5701859ad6c1e1925bba5c4c1a33bb676cb	The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, @DISEASE$ and childhood disintegrative disorder (CDD).	false
+5b59c9101171cfd7e67f8e4dded473168c75be57	The five types included in ASD are: Asperger syndrome, @DISEASE$-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and childhood disintegrative disorder (CDD).	false
+aa27ef2c7fbc5c6419613f03c25f299c9950793a	ASDs include autism, @PHENOTYPICFEATURE$-not otherwise specified (PDD-NOS), @DISEASE$ and Asperger disorder.	has_symptom
+5b8acd353bc5c85c89f254057f3add55e9b2e4ef	ASDs include @PHENOTYPICFEATURE$, pervasive developmental disorder-not otherwise specified (PDD-NOS), @DISEASE$ and Asperger disorder.	false
+537dd296f51fd4f1bd19428aca787ff0132ee015	ASDs include @PHENOTYPICFEATURE$, @DISEASE$-not otherwise specified (PDD-NOS), Rett syndrome and Asperger disorder.	false
+f4659573c599382150f7512983510c35e7cac636	Brief report: autistic behaviors among children with fragile X or @DISEASE$: implications for the classification of @PHENOTYPICFEATURE$.	has_symptom
+86b407ad35070324119441008b08df943cf7e827	@DISEASE$ is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of @PHENOTYPICFEATURE$, syndactyly, bone fragility, and learning disabilities.	has_symptom
+4ea25ff560315968580665e1c1c7e26f0ed8b7e7	Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of @DISEASE$, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	false
+4880bb199c077feca79b7d2abbce7b82411430bd	@DISEASE$ is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	false
+58557327b8f849b9e8ed74c6e0f542f6ad5b288e	Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset @DISEASE$ similar to FMD and variable penetrance of brachydactyly, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	false
+38dd92d40f010aeb86e47722a663f584ef35509f	@DISEASE$ (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of @PHENOTYPICFEATURE$, syndactyly, bone fragility, and learning disabilities.	has_symptom
+3fb048c6e80f2500811b7a8c8394229faa35a4e2	@DISEASE$ (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	false
+be338bb3652bfeed7e108dad70704e865e943e7b	Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of @DISEASE$, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	false
+8b11efc42009150babe4d84942f1a7e8fe57c248	Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of @DISEASE$ (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of severe developmental delay, @PHENOTYPICFEATURE$, and behavioral abnormalities.	has_symptom
+9ad389604aa65db7365e7247bc6f420c70f549b4	@DISEASE$ (PEX) often coexists with @PHENOTYPICFEATURE$ optic nerve head damage.	has_symptom
+69eed3f86d0cb209cdfe4fd80acddd68f58b1e4f	Phacoemulsification with mechanical pupil dilation was performed on a functionally monocular @PHENOTYPICFEATURE$ patient with @DISEASE$.	has_symptom
+4eb7166f0a1784526001edb811446121088bdba8	Diagnoses included primary open angle glaucoma, ocular hypertension, pigment dispersion @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+3fc374efb57b08754c80ab149cab2b45e0a9f463	Intraocular lens implantation in @DISEASE$ and capsular @PHENOTYPICFEATURE$.	has_symptom
+ec7262ae2e9906273149f9b4e16d573219334837	Iris indocyanine green angiography in @DISEASE$ and capsular @PHENOTYPICFEATURE$.	has_symptom
+c7ce5e20d12c8c4f8b6915f4fcbfd33bbff41755	@PHENOTYPICFEATURE$ occurred in 48.9% of eyes with pseudoexfoliation syndrome and in 6.8% of eyes without @DISEASE$, respectively.	has_symptom
+4ac1b33e0dbf0527eb61359cca1950092835d803	@PHENOTYPICFEATURE$ occurred in 48.9% of eyes with @DISEASE$ and in 6.8% of eyes without pseudoexfoliation syndrome, respectively.	has_symptom
+6edb2e3f62333b17d591c6283fc595a44d0998e4	@PHENOTYPICFEATURE$ was found in 28 of 82 eyes with @DISEASE$ (34.1%).	has_symptom
+f9611993e7745b0c357d38c76ad33eb18fee2a2f	@PHENOTYPICFEATURE$ was found in 41 of 108 eyes with @DISEASE$ (38%).	has_symptom
+1d1e35cf41d9db6dfb9b6ebaf499a75fc2056902	To evaluate the elastin gene (ELN) as a secondary risk factor for pseudoexfoliation syndrome (PXFS) and the associated @PHENOTYPICFEATURE$ @DISEASE$ (PXFG).	has_symptom
+85af1b4967af25eee2d4e9222b9bf928b21f1d9c	To evaluate the elastin gene (ELN) as a secondary risk factor for @DISEASE$ (PXFS) and the associated @PHENOTYPICFEATURE$ pseudoexfoliation glaucoma (PXFG).	has_symptom
+0e1d53b16507e0e4df3860498b9707f47f814765	@PHENOTYPICFEATURE$ also occurred in association with the @DISEASE$ and secondary to anterior uveitis.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+cbecefd8fbd2c5f45794d569033fb0ed23dcc617	[Bourneville's @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+5bb2993943d3574bc0936fa821b416fbf4c85a26	Early @PHENOTYPICFEATURE$ symptoms in infants with @DISEASE$.	has_symptom
+aae351cb39e54240dfc235424d026c0f8f9e0b7f	Childhood @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+d11c1682e2d9d0c89dd56f7ef262606d5dc63179	@PHENOTYPICFEATURE$ and @DISEASE$: prevalence and clinical features.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2b79dfca7d42ff43cccbeb5d139d11d82c3d2b48	@PHENOTYPICFEATURE$ and infantile spasms in children with @DISEASE$.	has_symptom
+dbd2cf37253a2907c1c8cd78f06331a8e67428da	X linked subcortical laminar heterotopia and @DISEASE$ syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with @PHENOTYPICFEATURE$ and epilepsy in hemizygous males, and subcortical laminar heterotopia (SCLH) associated with milder mental retardation and epilepsy in heterozygous females.	has_symptom
+4880bb199c077feca79b7d2abbce7b82411430bd	@DISEASE$ is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of brachydactyly, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	has_symptom
+7f140dca0cd343d25f9b2ed59bebb05b6e6b8ba1	Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset @DISEASE$ similar to FMD and variable penetrance of @PHENOTYPICFEATURE$, syndactyly, bone fragility, and learning disabilities.	false
+86b407ad35070324119441008b08df943cf7e827	@DISEASE$ is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of @PHENOTYPICFEATURE$, syndactyly, bone fragility, and learning disabilities.	false
+6f6e747b4bc65fb1876e9b5f22f0ff322d21d998	Grange syndrome is an autosomal-recessive condition characterized by severe and early-onset vascular disease similar to FMD and variable penetrance of @PHENOTYPICFEATURE$, @DISEASE$, bone fragility, and learning disabilities.	false
+3fb048c6e80f2500811b7a8c8394229faa35a4e2	@DISEASE$ (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, @PHENOTYPICFEATURE$, bone fragility, and learning disabilities.	has_symptom
+38dd92d40f010aeb86e47722a663f584ef35509f	@DISEASE$ (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of @PHENOTYPICFEATURE$, syndactyly, bone fragility, and learning disabilities.	false
+332f9e773b6bcc9518650c705e6eb4bd4f05811c	Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of @PHENOTYPICFEATURE$, @DISEASE$, bone fragility, and learning disabilities.	false
+6224ccc5826f1d0b45725b81c5fc5bb0837a9c13	Immune-mediated mechanisms have been suggested in selected pediatric epileptic syndromes in which acute and rapidly progressive encephalopathies preceded by @PHENOTYPICFEATURE$ and/or infections, such as @DISEASE$, or in chronic progressive encephalopathies, such as Rasmussen encephalitis.	has_symptom
+a2c278b0e9e506e0b800262506dd6c6d0cbd3114	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, weight loss, @PHENOTYPICFEATURE$, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	has_symptom
+702a53972a550e1abf864cebfd026ebae0421ae8	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, @PHENOTYPICFEATURE$, @DISEASE$, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+5956707132dc5a7661426dec46198736ddb33eed	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, @PHENOTYPICFEATURE$, abdominal pain, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+05ed2d6faee25cae21cf3e18ce33736ffebbb158	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, weight loss, @DISEASE$, @PHENOTYPICFEATURE$, dystrophic changes of fingernails, and alopecia.	false
+0ce9b502b4d17023c93679b3049e016b29ac9294	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, @DISEASE$, @PHENOTYPICFEATURE$, abdominal pain, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+0f99125972e46a1e0094f67a3315a89329aa294c	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, weight loss, abdominal pain, @PHENOTYPICFEATURE$, dystrophic changes of fingernails, and alopecia.	false
+5b24f10b160788d111e9bc4ba8cccc68f0fb3572	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, @DISEASE$, weight loss, abdominal pain, @PHENOTYPICFEATURE$, dystrophic changes of fingernails, and alopecia.	false
+e1738be21fca42e4c9f902c9683ace71741be185	Hereditary gingival fibromatosis and @PHENOTYPICFEATURE$ in a 42-year-old man with @DISEASE$.	has_symptom
+bf8a35942803cb8f04a262830ac1dd2729da582a	Hereditary gingival fibromatosis and @PHENOTYPICFEATURE$ in a 42-year-old man with @DISEASE$: Gingival fibromatosis is a rare disease, which can be seen as an isolated condition or associated with some uncommon syndromes.	has_symptom
+c9448105fba26dddee51f88f3bb28fdd2ef16ee9	Severe @PHENOTYPICFEATURE$ complicating @DISEASE$.	has_symptom
+1d3982e359f1139827a383cb3b5a393877f9bddc	In the short stature group, @DISEASE$ (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	has_symptom
+74faed5762caec49a287e778950408e6c26f1c9e	In the short stature group, Coffin-Lowry syndrome (@DISEASE$), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	has_symptom
+79bf676a11a43b0198cabe63fc36f01d96775be2	In the short stature group, Coffin-Lowry syndrome (@DISEASE$), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+5ff2731230cc16a4e188477d4b5e4bf8d67c5bb4	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent @DISEASE$, and type 4 Meier-Gorlin syndrome were identified.	false
+98a3ddba56a138b4a7c8fa8402575d06aae33ba6	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly @DISEASE$ with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+9a1e1eca795f6abce987138056bfe5ea89a897e1	In the short stature group, Coffin-Lowry syndrome (CLS), @DISEASE$, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+abee761d14076d32ff1ee5697848d02ba029db32	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 @DISEASE$ were identified.	false
+4f367e5956341c5d520693602844452f8c91aa3a	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @DISEASE$ with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+4922e1bbcaaa07209f4297180641d500ccfddcdc	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency @DISEASE$, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+439f46d5f20febf314fa83b0d3d3d2c848fc0a2d	In the short stature group, @DISEASE$ (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+7df26a849764a7857fd8b972d4fd2e2d41ceafc2	Coffin-Lowry syndrome (@DISEASE$) is a rare X-linked disorder characterized by moderate to severe intellectual disability, hypotonia, craniofacial features, tapering digits, @PHENOTYPICFEATURE$, and skeletal deformities.	has_symptom
+65203a9430b3ed35bf6b47819c97302ebcf3d65f	@DISEASE$ (CLS) is a rare X-linked disorder characterized by moderate to severe intellectual disability, hypotonia, craniofacial features, tapering digits, @PHENOTYPICFEATURE$, and skeletal deformities.	has_symptom
+542bbb702ef72ff1a37930ef2b89bd5a0c4286ff	Coffin-Lowry syndrome (CLS) is a rare X-linked disorder characterized by moderate to severe @PHENOTYPICFEATURE$, hypotonia, craniofacial features, tapering digits, @DISEASE$, and skeletal deformities.	false
+17f41afb2d9468d2118f48f85286d8f2739eed5d	Coffin-Lowry syndrome (@DISEASE$) is a rare X-linked disorder characterized by moderate to severe @PHENOTYPICFEATURE$, hypotonia, craniofacial features, tapering digits, short stature, and skeletal deformities.	false
+f37a44ac00dc427fa08decc83a8e4ab497108b9f	@DISEASE$ (CLS) is a rare X-linked disorder characterized by moderate to severe @PHENOTYPICFEATURE$, hypotonia, craniofacial features, tapering digits, short stature, and skeletal deformities.	false
+f72f9975e6ed9ee1b34e11ec0bfc0fa0be8e0736	The patient had features of @DISEASE$ including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, @PHENOTYPICFEATURE$, microcephaly, and kyphoscoliosis.	has_symptom
+8490966f49408ff949278897814d5019858b70ea	The patient had features of @DISEASE$ including @PHENOTYPICFEATURE$, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, microcephaly, and kyphoscoliosis.	false
+3e5f54652d423b0a7759b7ededfdae9876f4d8b2	The patient had features of Coffin-Lowry syndrome including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis.	false
+0114666120ede6ff95d108a1688112172e01293c	The patient had features of @DISEASE$ including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, @PHENOTYPICFEATURE$, and kyphoscoliosis.	false
+5642a5c783c29689e1d455b0cc6646b26507f20d	The patient had features of Coffin-Lowry syndrome including @PHENOTYPICFEATURE$, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, @DISEASE$, microcephaly, and kyphoscoliosis.	false
+eeab6568ed2636293ae0942cfdf9c103ad0d205e	@DISEASE$ is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, @PHENOTYPICFEATURE$, and hypotonia.	has_symptom
+94be19a09ebec2da1f5c237024815d6dd97a7073	Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and hypotonia.	false
+8a6fd52625ad1333fef5be38877210b653447a63	@DISEASE$ is a rare X-linked disorder characterized by craniofacial and @PHENOTYPICFEATURE$, mental retardation, short stature, and hypotonia.	false
+0b4bc551547335a9c9be8d650e3affbb9a6ae342	Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, @DISEASE$, and hypotonia.	false
+fe9b582670d45494ff4b4c04b3150f913ddd3822	@DISEASE$ is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, short stature, and hypotonia.	false
+0bbee253d25ed8d72a273df4aa4144a024300fbc	@DISEASE$ is characterized by mental retardation, skeletal abnormalities, delayed bone development, @PHENOTYPICFEATURE$, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	has_symptom
+4c236f513a3a9ca6b580dc5cc8c16b5697a7bcd9	@DISEASE$ is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital @PHENOTYPICFEATURE$, anteverted nares, and a prominent frontal region.	false
+d02855367b19b8bac2b509fa10ea12002b1b2ee9	Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, @DISEASE$, tapered fingers, large ears, orbital @PHENOTYPICFEATURE$, anteverted nares, and a prominent frontal region.	false
+0e7f7cf9c3fdc04942ceac909c1383e64de0a923	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+c382ce84a8be24ea8251883b462a6f5c67b03d01	Coffin-Lowry Syndrome is characterized by mental retardation, @PHENOTYPICFEATURE$, delayed bone development, @DISEASE$, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+9d14c911672d2b46cea63c5135067c3f8fc9d05f	Coffin-Lowry Syndrome is characterized by @PHENOTYPICFEATURE$, skeletal abnormalities, delayed bone development, @DISEASE$, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+bec8dda12d59ee532ed4a779ecbd1b9f40e8b86a	@DISEASE$ is characterized by mental retardation, @PHENOTYPICFEATURE$, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+3875507a398ee4caec450e42e5dcefffd8f801f8	@DISEASE$ (CLS) is a rare X-linked dominant disorder characterized by intellectual disability, craniofacial abnormalities, @PHENOTYPICFEATURE$, tapering fingers, hypotonia, and skeletal malformations.	has_symptom
+59c2d5bd05c4b1f6130d804ef2d681c6f645d4cf	Coffin-Lowry syndrome (@DISEASE$) is a rare X-linked dominant disorder characterized by intellectual disability, craniofacial abnormalities, @PHENOTYPICFEATURE$, tapering fingers, hypotonia, and skeletal malformations.	has_symptom
+2a02b2016fb61dbe0474cdd1876e6d82ddbfdcbe	@DISEASE$ (CLS) is a rare X-linked dominant disorder characterized by @PHENOTYPICFEATURE$, craniofacial abnormalities, short stature, tapering fingers, hypotonia, and skeletal malformations.	false
+7af20a9e691564a841625c283b6d1ec3f17650c3	Coffin-Lowry syndrome (@DISEASE$) is a rare X-linked dominant disorder characterized by @PHENOTYPICFEATURE$, craniofacial abnormalities, short stature, tapering fingers, hypotonia, and skeletal malformations.	false
+6baea00436546e2e21b2d7108103f42d2f904ff3	Coffin-Lowry syndrome (CLS) is a rare X-linked dominant disorder characterized by @PHENOTYPICFEATURE$, craniofacial abnormalities, @DISEASE$, tapering fingers, hypotonia, and skeletal malformations.	false
+8beeb653bc8df870b567bb1f2a32864c710e6112	Coffin-Lowry syndrome (@DISEASE$) is a rare genetic disorder characterized by craniofacial abnormalities, mental retardation, @PHENOTYPICFEATURE$, and hypotonia.	has_symptom
+62977d6121f5110188fda82dbbd98d724722167d	@DISEASE$ (CLS) is a rare genetic disorder characterized by craniofacial abnormalities, mental retardation, @PHENOTYPICFEATURE$, and hypotonia.	has_symptom
+d8aee86e48bead79f54adac3e935fbbe40bb19f2	@DISEASE$ (CLS) is a rare genetic disorder characterized by craniofacial abnormalities, @PHENOTYPICFEATURE$, short stature, and hypotonia.	false
+3b63e09a010e663e86d53f988b80e5288516b2cb	Coffin-Lowry syndrome (@DISEASE$) is a rare genetic disorder characterized by craniofacial abnormalities, @PHENOTYPICFEATURE$, short stature, and hypotonia.	false
+dc5eddc31fa5dca657b02e70fba91c858cf4658a	Coffin-Lowry syndrome (CLS) is a rare @DISEASE$ characterized by craniofacial abnormalities, @PHENOTYPICFEATURE$, short stature, and hypotonia.	false
+0f4f66789f7f40a55ea1443c1a54eb87f017d4d0	Coffin-Lowry syndrome (CLS) is a rare genetic disorder characterized by craniofacial abnormalities, @PHENOTYPICFEATURE$, @DISEASE$, and hypotonia.	false
+9e6cceee626ec7eb1922ec379734ddace862f28c	Typical clinical features of the @DISEASE$ include facies with hypertelorism, small nose, wide mouth, full and everted lips; @PHENOTYPICFEATURE$, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	has_symptom
+1749b763c10307c3b42ee2da593f5ad46534b443	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, @DISEASE$ and spinal disorders such as kyphosis and scoliosis.	false
+da7ec9ddeb8af5a494903906320798bb3449fb67	Typical clinical features of the Coffin-Lowry syndrome include facies with @PHENOTYPICFEATURE$, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and @DISEASE$.	false
+3de82df3ca17578e999bd4a28fb80884072373b3	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, @DISEASE$ and spinal disorders such as kyphosis and scoliosis.	false
+5783cbaf9a3d93c6d53ea5891dc4fed56574e51b	Typical clinical features of the Coffin-Lowry syndrome include facies with @PHENOTYPICFEATURE$, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, @DISEASE$ and spinal disorders such as kyphosis and scoliosis.	false
+2151e5a9c248ca23eb382fab1737b75f85b30dcd	Typical clinical features of the Coffin-Lowry syndrome include facies with @PHENOTYPICFEATURE$, small nose, wide mouth, full and everted lips; @DISEASE$, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+c4a858e770e2b23380201aeb697a4ad965c42023	Typical clinical features of the @DISEASE$ include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+f3b6730c4766a009aca3cac9a705414d1c6e6488	Typical clinical features of the @DISEASE$ include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+df9588b5a19780c7ae1d55ff6f45f9a154901f8b	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+94db43bc7a27c27ec75181b7211cd69a167d691b	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and @DISEASE$.	false
+74de969477963fa0fbf163a6aa1cb4544e0e922c	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; @DISEASE$, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+b73f6666730975bb77f749e7b27a40c82674cbec	Typical clinical features of the @DISEASE$ include facies with @PHENOTYPICFEATURE$, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+6fccd62d9f43cd2be2e76e3276170e46b006a322	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and @DISEASE$.	false
+733296b2f65b0b626b4548064dd2f8e9c133e0d8	His mother had a @PHENOTYPICFEATURE$, mental retardation and similar, although minor, manifestations of the @DISEASE$ in her face, hands and fingers.	has_symptom
+baf0026361a38350df5dcad27348dac754732407	His mother had a @DISEASE$, @PHENOTYPICFEATURE$ and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers.	false
+088228e6f98dedae99cc5f4a9173a11e0c1a8595	His mother had a short stature, @PHENOTYPICFEATURE$ and similar, although minor, manifestations of the @DISEASE$ in her face, hands and fingers.	false
+239e3c5bbb8e504942ff51dd7116aba56bdd2b4c	@DISEASE$ (MCOPS6, MIM# 607932) is an @PHENOTYPICFEATURE$ disorder caused by loss-of-function variants or large deletions involving BMP4, which encodes bone morphogenetic protein 4, a member of the TGF-? protein superfamily.	has_symptom
+e6d900227d11591b161b602936c42338ee9baccc	On the strength of these findings, an @DISEASE$ sclerotic vascular disease should be considered as one of the multifactorial genesis of @PHENOTYPICFEATURE$ in old age.	has_symptom
+8cb862dcd96cc6d1199526b9581d7a00370ec1c6	Patients with CMTX5 and @DISEASE$ have peripheral neuropathy, including @PHENOTYPICFEATURE$ and optic atrophy.	has_symptom
+4d5761c4912e402c39a610a73320a03803981da8	Patients with CMTX5 and @DISEASE$ have peripheral neuropathy, including hearing impairment and @PHENOTYPICFEATURE$.	false
+d4ec868fdfdb8bb1aa76daa99a8d182dd1b3aa15	Patients with CMTX5 and Arts syndrome have @PHENOTYPICFEATURE$, including @DISEASE$ and optic atrophy.	false
+c621a189f8609fc1a2eafa252cb3763fcb26c4d9	Patients with CMTX5 and @DISEASE$ have @PHENOTYPICFEATURE$, including hearing impairment and optic atrophy.	false
+1413259847d4ff017fd5cf3c73f9ed35e6375769	Patients with CMTX5 and Arts syndrome have peripheral neuropathy, including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7e1179c13627a9e06fa2f743beb1e340147f926f	The mutations in the PRPS1 gene leads to X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), PRS super activity, @DISEASE$, X-linked @PHENOTYPICFEATURE$-1, breast cancer, and colorectal cancer.	has_symptom
+d44a7c62961c712a5f9014c739f9c98ad8a5c42d	X-linked Charcot-Marie-Tooth disease, @DISEASE$, and prelingual non-syndromic @PHENOTYPICFEATURE$ form a disease continuum: evidence from a family with a novel PRPS1 mutation.	has_symptom
+b43b1110eeb969ab9fc92f620689711c0a0fc682	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, @PHENOTYPICFEATURE$, and optic atrophy.	has_symptom
+d85efc2ba9835fea1e1291cdfd4283d2b59317fe	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, hearing impairment, and optic atrophy.	false
+821f402bcb52d655c722ac4fbf14f636a4aca97c	Arts syndrome is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, ataxia, delayed motor development, @DISEASE$, and optic atrophy.	false
+eef6f047d29c72c41959c7baf8ea6a4cb3ba7043	@DISEASE$ is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy.	false
+71786380a8b576713de5c3eb5d00940a9c2cbf10	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and @PHENOTYPICFEATURE$.	false
+5683c5b28599a0f7dc854401da7fe898422ae448	Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b555e7ac94a11d5f484aa9ad61fbe99ce090dd33	Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, @DISEASE$, and optic atrophy.	false
+3d5362a81661361abf8642326b962507016dc86d	Neurosensory @PHENOTYPICFEATURE$ risk depends on intensity of occupational noise and length of service under exposure to noise, on worker's age, presence of @DISEASE$ hypertension and type of lipid metabolism disorders.	has_symptom
+156d9274fe0884b9b6d45b8d69e4577a5a5b8d48	Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic @PHENOTYPICFEATURE$ including @DISEASE$ and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).	has_symptom
+adab499a8c48e8da75eef0e68a5be23af08b8ea3	Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic @PHENOTYPICFEATURE$ type 2 (DFN2), or in syndromic deafness including @DISEASE$ and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).	false
+d240857cce1476f7d7e668e0dab5f36c8fdc4de4	Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic @PHENOTYPICFEATURE$ type 2 (DFN2), or in syndromic @DISEASE$ including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).	false
+0231f6664e27ef5052b9fbfaf04aaa63f911175f	Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic @PHENOTYPICFEATURE$ type 2 (DFN2), or in @DISEASE$ deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).	false
+7938cc43f1f60af7a9cce8da86fd3f5ecb81aa2e	Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic @PHENOTYPICFEATURE$ type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked @DISEASE$-5 (CMTX5).	false
+6a6a33a2ba0fd7bb958a4895f16e49221ca645bc	Defects in this gene, encoding the phosphoribosyl pyrophosphate synthetase 1 (PRS-I) enzyme, determine either X-linked syndromic conditions associated with @PHENOTYPICFEATURE$ (eg, @DISEASE$ and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1).	has_symptom
+1bf7940fcfd40a528fa6310e5a4a2344b399cd7f	To assess the highest educational level attained by patients with @DISEASE$ and clinically significant @PHENOTYPICFEATURE$.	has_symptom
+20f4a3a8682c674b9609d90265e7655ad5aee803	In humans, the ABCA4 gene is associated with @DISEASE$ (STGD), an autosomal recessive retinal degeneration leading to central @PHENOTYPICFEATURE$.	has_symptom
+9d441513300319074e8f81b3560ac627a071205f	Patients with @DISEASE$ and clinically significant @PHENOTYPICFEATURE$ (documented best-corrected visual acuity of 20/70 or worse in each eye either before or up to the age of 22 years) were included in the study.	has_symptom
+315af45cf2bceb391be5be7f8ac159b22b1e4035	@DISEASE$ (STGD), characterized by central @PHENOTYPICFEATURE$, is the most common juvenile macular dystrophy.	has_symptom
+0cca50ff8983490764618ec0991ffeecff16ab06	Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (CRD), color @PHENOTYPICFEATURE$, @DISEASE$ (STGD) and other maculopathies.	has_symptom
+e5e00c881fc591aaaa0d9e79650fe76ce92a07af	@DISEASE$ (STGD) is the most common juvenile macular dystrophy, characterized by central @PHENOTYPICFEATURE$.	has_symptom
+71acef853573017120aaef7e58d5d327c9b2c652	A subcategory of CHARGE patients show overlapping phenotypic characteristics with @DISEASE$ (thymic hypo/aplasia, @PHENOTYPICFEATURE$, T-cell immunodeficiency).	has_symptom
+67a524a652c1dcdb03eb14738de24bab1a0c4069	We report here a case of an 8-year-old boy with partial @DISEASE$ who presented initially with neonatal @PHENOTYPICFEATURE$, but was subsequently normocalcaemic.	has_symptom
+c93d76249bd170da0ac87a2f7eea44c714fbdbf1	[@DISEASE$ with mild episodic @PHENOTYPICFEATURE$].	has_symptom
+9b128c43206d21e2abb48cc58b8d647b17bb2d91	We report a male infant with partial @DISEASE$ characterized by truncus arteriosus, typical facial dysmorphism, @PHENOTYPICFEATURE$, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	has_symptom
+63877535b4ccf3e1c03bad141fb2bc7fd050b630	We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical @PHENOTYPICFEATURE$, @DISEASE$, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+fdba5155dc2df4b16bd8c377d6a772bbc8481c6f	We report a male infant with partial @DISEASE$ characterized by @PHENOTYPICFEATURE$, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+d32e2886c422f8b554aead669402ebdb90a32c35	We report a male infant with partial DiGeorge syndrome characterized by @PHENOTYPICFEATURE$, typical facial dysmorphism, @DISEASE$, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+c59ff2b46e2fcf075db4d635f7b41f1c0eeb8418	We report a male infant with partial @DISEASE$ characterized by truncus arteriosus, typical @PHENOTYPICFEATURE$, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+bc8d6f782d24ba0d4ea78c0344876dad2a38db7a	This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the @DISEASE$, such as cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, etc.	has_symptom
+cec0bf4a6ad6fe487622d120f2f9defd545460bb	This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the DiGeorge syndrome, such as cardiac defects, abnormal faces, @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$, etc.	false
+3af4cf5b603a76855cfcf7e7f7d8b91aff1ab7fe	This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the @DISEASE$, such as cardiac defects, abnormal faces, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, etc.	false
+00f0fefcdc7e88e588394746522c57ce036766ce	This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the DiGeorge syndrome, such as cardiac defects, abnormal faces, thymic hypoplasia, @PHENOTYPICFEATURE$, and @DISEASE$, etc.	false
+5f305e17f73df15ff237b3d281e48164b3108ef7	This study also suggested that systematic approaches with several small DNA probes along the DGCR could help to dissect the complex phenotypes associated with the @DISEASE$, such as cardiac defects, abnormal faces, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, etc.	false
+261d45696d9a713a7c8c7c582cceba34c1bbbbdb	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	has_symptom
+95320dadd4dd4d6d35b6c66fd90318afde0c0b29	Postnatally, the patient presented with @PHENOTYPICFEATURE$, @DISEASE$, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+bb824cb885dcbb36f8a6f951c014491930251e0d	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+efae207c6f683634ed2730aab377aebfa207348f	Postnatally, the patient presented with seizures, @DISEASE$, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+7944d537e9021233e135ecc09ddfe4ab7bf9eac9	Postnatally, the patient presented with seizures, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as @DISEASE$.	false
+4ee4c35c88fd3dd6ecde458061c9bae3e7f60174	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	has_symptom
+fd18cfcfefd9f16d30287b0f064f23986decbfdd	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+569fde7b5ba08a3e9681fd2ab096334502d573ab	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+bd9bd0858bcfdb1bea2bea2d8cb2457fd23ba1e0	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+3ba1dbf953a6a66ff1e7e6d5d527d5d40b8da893	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+caedf3362b277794676aa1be5b91d608fe6ec426	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+6e7e202c72d4e4884f21bc570084098eaf36eb92	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+0aaece4287a50d82c87ecd4f3cbd533cebfd68c5	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+d4d3d42909a77bba3480a0fbe037b24c2d4ad67f	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+52ff617a714fffbe375b427dd56d6bbd8e9a0005	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+2d75d79c85be9310eb211799ff15228fa4067f97	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+e761b1e1910e295b733b16d98be5c4842448b182	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+04d7831aa51078890724b4ebdd5e8d39e4ff3d48	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+064c02b4e1c2cb31cbb4810dc714ad395ad87eff	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+c4fb63951dc52d7b0ea60628f33f1ee8ae66e1df	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+a763da704366a9a9ac22bff6723da4917edecc14	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+892e99f53feff057d601bc378c2385e98a047582	The @DISEASE$ (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, congenital heart defects, @PHENOTYPICFEATURE$, immunodeficiency, and cognitive and neuropsychiatric symptoms.	has_symptom
+5f5e4af3a627a9f530eca5c8e9933c593cad3d79	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, @PHENOTYPICFEATURE$, congenital heart defects, hypocalcemia, @DISEASE$, and cognitive and neuropsychiatric symptoms.	false
+e2cb88bd306673b6fb8f1fda44dc35813f4a2fa1	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+88b9a36db727858c4f5817ca91d1e26dcfa7cd7f	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical @DISEASE$ features, @PHENOTYPICFEATURE$, congenital heart defects, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+633b2e5ae0726dd9b984970a956c5a5a7e64813f	The @DISEASE$ (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, @PHENOTYPICFEATURE$, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+17f92135ecad0d84b04b78aef8df67bf076eac50	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, @PHENOTYPICFEATURE$, hypocalcemia, @DISEASE$, and cognitive and neuropsychiatric symptoms.	false
+0e6f1c29bd42c755d2b576d13495d8a471b013e0	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical @DISEASE$ features, palatal anomalies, @PHENOTYPICFEATURE$, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+b96d2866e4db96039359866931065fe3667f784b	The @DISEASE$ (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, @PHENOTYPICFEATURE$, congenital heart defects, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+02422a54d848eed0d3863bc28320e84e677d3ccf	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, @PHENOTYPICFEATURE$, congenital heart defects, @DISEASE$, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+3f360045990b04b36ac5f18c972b30470db6b1d1	We describe a case of a fetus with increased nuchal translucency at 12 weeks' gestation presenting with congenital cardiac defects of @DISEASE$ type and @PHENOTYPICFEATURE$ at birth.	has_symptom
+d8e0878cff7ef941547b0fae5a438126c89df88e	The male had @PHENOTYPICFEATURE$ and thus some of the features of @DISEASE$ (Peters' anomaly in addition to systemic malformations).	has_symptom
+099fe616d0374e974ef27689f3948e27c395b6aa	Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, @PHENOTYPICFEATURE$, and other anomalies: further delineation of the @DISEASE$.	has_symptom
+4cd0f8bc85e4f289713fb36617751d8364a6e56f	Autosomal recessive Peters anomaly, typical facial appearance, @PHENOTYPICFEATURE$, @DISEASE$, and other anomalies: further delineation of the Krause-Kivlin syndrome.	false
+7e98ded30ccd3add32136edd6959ed8d9eff28c7	Autosomal recessive @DISEASE$, typical facial appearance, @PHENOTYPICFEATURE$, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome.	false
+a2450169ff8c66be85f0ee9f8f5383bd811e1e7b	Autosomal recessive Peters anomaly, typical facial appearance, @PHENOTYPICFEATURE$, hydrocephalus, and other anomalies: further delineation of the @DISEASE$.	false
+f0936c8eb82878f28519435bc8e7ec359b8a6263	Inherited myopathies are major causes of @PHENOTYPICFEATURE$ and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal contractures.	has_symptom
+ffa697649f750a9087759a5b2435545969c845bb	Inherited myopathies are major causes of muscle atrophy and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	false
+74a7d80fccdf6008f735927485f54952d581de5e	Inherited @DISEASE$ are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	false
+b7d804daa48db5481a27cb19e4cc18d089c75d31	Inherited myopathies are major causes of @DISEASE$ and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	false
+691ed92cb548885c31f1cfb4dee8f0bd3ca7f6a9	A case is described with the characteristic clinical features of @DISEASE$: childhood onset in a male, very slowly progressive weakness and @PHENOTYPICFEATURE$, limitation of neck and trunk flexion, joint contractures, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	has_symptom
+6fb94bd041e87b380c728b2bdd4ae32634200968	A case is described with the characteristic clinical features of @DISEASE$: childhood onset in a male, very slowly progressive weakness and muscle atrophy, limitation of neck and trunk flexion, @PHENOTYPICFEATURE$, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	false
+04127be56e651bf503aaad22cbab1ca99fdad0f7	A case is described with the characteristic clinical features of rigid spine syndrome: childhood onset in a male, very slowly progressive weakness and @DISEASE$, limitation of neck and trunk flexion, @PHENOTYPICFEATURE$, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	false
+866e60d0a1eaa22fb2e35211db76d3d811fed127	As she has not been compatible with progressive myoclonus epilepsy (@DISEASE$) and progressive @PHENOTYPICFEATURE$ ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.	has_symptom
+4b71a66bd830484cda1130e2ed879241547d5f94	As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive @PHENOTYPICFEATURE$ ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical @DISEASE$ syndrome.	has_symptom
+dd21ffd59d66056285bb7c43ddec275c298c3a2c	As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic @PHENOTYPICFEATURE$ (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical @DISEASE$ syndrome.	false
+714c080c8f2e5445e1ad63046ab801bb9e1b001a	As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic @PHENOTYPICFEATURE$ (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME @DISEASE$.	false
+ef8cede81637e446df720f736f8899d9f1eac406	As she has not been compatible with progressive myoclonus epilepsy (@DISEASE$) and progressive myoclonic @PHENOTYPICFEATURE$ (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.	false
+b0430cbd8a4a594a9d901e5ff1ed7e9ef994c74f	As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive @DISEASE$ @PHENOTYPICFEATURE$ (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.	false
+21791c927d6f5294f1b8be9c12b4b0d7aa5daa26	We used transcranial magnetic stimulation (TMS) to investigate whether there were any characteristic cortical excitability changes in @DISEASE$ (PME) compared to juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	has_symptom
+95cd98ae199e5f62e5b3e1bdbd5f63a8a2f8a369	The degenerative type of @DISEASE$ (PME) is a hereditary disease with grand mal seizures, stimulus sensitive @PHENOTYPICFEATURE$, characteristic EEG and mental deterioration in the late stage.	has_symptom
+03165dff3f8e15de5cc6dd9468062ed5f4ffe957	The degenerative type of progressive myoclonus epilepsy (@DISEASE$) is a hereditary disease with grand mal seizures, stimulus sensitive @PHENOTYPICFEATURE$, characteristic EEG and mental deterioration in the late stage.	has_symptom
+2c9819cc7f3ec77c7865f5f4fec979dc69116bcf	The degenerative type of progressive myoclonus epilepsy (@DISEASE$) is a hereditary disease with @PHENOTYPICFEATURE$, stimulus sensitive myoclonus, characteristic EEG and mental deterioration in the late stage.	false
+a96b76ef36764b45b2dfe644943bfe9fd210d016	The degenerative type of progressive myoclonus epilepsy (PME) is a @DISEASE$ with @PHENOTYPICFEATURE$, stimulus sensitive myoclonus, characteristic EEG and mental deterioration in the late stage.	false
+cf21a44c1217543ce56e4774bf57f86389489230	The degenerative type of progressive myoclonus epilepsy (PME) is a hereditary disease with @PHENOTYPICFEATURE$, stimulus sensitive @DISEASE$, characteristic EEG and mental deterioration in the late stage.	false
+422f91e4c321fc155b97f22498aea34bac56fed3	The degenerative type of @DISEASE$ (PME) is a hereditary disease with @PHENOTYPICFEATURE$, stimulus sensitive myoclonus, characteristic EEG and mental deterioration in the late stage.	false
+b0a743e8412719b2b1ab267dbc5fdc74a0a559a1	Valproate is the treatment of first choice for benign @PHENOTYPICFEATURE$ epilepsy in infants, myoclonic astatic epilepsy, epilepsy with myoclonic absences, eyelid myoclonia with absences, juvenile myoclonic epilepsy and @DISEASE$.	has_symptom
+624b5b56f5913fa8c5260220239c3e36ebf6a02a	Valproate is the treatment of first choice for benign myoclonic epilepsy in infants, myoclonic astatic epilepsy, epilepsy with myoclonic absences, eyelid myoclonia with absences, juvenile @PHENOTYPICFEATURE$ epilepsy and @DISEASE$.	has_symptom
+17e1923e79754871c432632aa18b91000d241c51	A positive effect was reported in some patients with epileptic @PHENOTYPICFEATURE$ in idiopathic generalized epilepsy and in @DISEASE$.	has_symptom
+6d2ad218e92aa3ba77a1be4e67bb1cf2f3f8feca	Auditory startle response (ASR) was normal in juvenile @PHENOTYPICFEATURE$ epilepsy whereas it was suppressed in @DISEASE$.	has_symptom
+032817b78c86745f759baf54c4b713c3db312d85	Action @PHENOTYPICFEATURE$ - renal failure is a rare syndrome associated with a @DISEASE$ and renal impairment that may lead to end-stage renal failure.	has_symptom
+3a8917d34f32f190df84fb755056fd98517d382c	Action @DISEASE$ - @PHENOTYPICFEATURE$ is a rare syndrome associated with a progressive myoclonic epilepsy and renal impairment that may lead to end-stage renal failure.	false
+97bc7d00abdedfedab66a4c8d1ab72c76ae4dafe	Action myoclonus - @PHENOTYPICFEATURE$ is a rare syndrome associated with a progressive myoclonic epilepsy and renal impairment that may lead to @DISEASE$.	false
+ecc3ec6c7f957c88fa106d93f92979548f0cf4a9	Action myoclonus - @PHENOTYPICFEATURE$ is a rare syndrome associated with a @DISEASE$ and renal impairment that may lead to end-stage renal failure.	false
+0a2ad70e0f222d6f8c3f1d218b5b11d20c3a3ca5	We studied four patients affected by @DISEASE$: three patients had the clinical features of Lafora's disease while the fourth was affected by a Lundborg's type of @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+7dab111bfc9ff5a808e0bfe5f2c2d83266948f74	In patients with @DISEASE$, specific diseases can frequently be recognized, but the diagnostic yield in progressive @PHENOTYPICFEATURE$ ataxia is much lower.	has_symptom
+79fd785885941242a55d040501e905deef1baca7	In patients with progressive myoclonic epilepsy, specific diseases can frequently be recognized, but the diagnostic yield in progressive @DISEASE$ @PHENOTYPICFEATURE$ is much lower.	false
+ca1b8f88f9f8091da50b57374b5ead93dbcfae9f	In patients with @DISEASE$, specific diseases can frequently be recognized, but the diagnostic yield in progressive myoclonic @PHENOTYPICFEATURE$ is much lower.	false
+9ed00e4c05e1c398a31ba3c95d66bc849e48c223	The subsequent course of the disease was characterized by drug-resistant @PHENOTYPICFEATURE$ epilepsy, cognitive decline, and visual symptoms, which oriented the diagnosis toward @DISEASE$ and, more specifically, LD.	has_symptom
+d57b81ea1a7ee73e0d898077c9c67f087430c3ea	Associated disorders in our cohort included Poland syndrome (two patients), @DISEASE$, chromosome anomalies (including tetrasomy X) and Cenani Lenz @PHENOTYPICFEATURE$.	has_symptom
+be0fa0288436a4fa481db2b6edaad1c633eef4f6	A 16-month-old boy had the mental and physical retardation, low-pitched cry, phocomelia with @PHENOTYPICFEATURE$, hirsutism, low-set ears, bushy eyebrows, elongated eyelashes, blepharoptosis, and strabismus characteristic of @DISEASE$ along with ophthalmoscopic findings characteristic of Coats' disease.	has_symptom
+31cfecd3abb590bffe7dba3c533b347cddbc3c78	The patients showed the characteristic facies of the @DISEASE$, with synophrys, long curly eyelashes and small upturned nose, and physical features, including generalized hirsutism, monodactyly, @PHENOTYPICFEATURE$ and clinodactyly.	has_symptom
+0f02d5cc2646d3773b02d29b9511ba742ce85980	Central nervous system manifestations of @DISEASE$ (MPS I) such as cognitive impairment, @PHENOTYPICFEATURE$, and spinal cord compression are inadequately treated by intravenously-administered enzyme replacement therapy with laronidase (recombinant human alpha-L-iduronidase).	has_symptom
+1a905cb8178c6edbca48ce539b364b1526c5749d	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	has_symptom
+b4d5e982a15c75c58e0dbaf47b26db7b915e0e4f	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	has_symptom
+449ebb25773b4ef5a076680c4ffaad89ba69a522	All five patients displayed the classical features of @DISEASE$ (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+5ec368ee4d656cf39275a0c7bc69a00940d49a18	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+499d70d00eab6adb18dafaaf7e296462df14f813	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, microcephaly, @DISEASE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+846edda28d9da60b9770c35f4943f8ad55a0938e	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, microcephaly, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+47442c7a2fc738580b19fde0ebf19b4464c8d491	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, @DISEASE$ and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+9b0bf07dc048de966219878b40dfdfde4d4fd3dc	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+77a4b8e7931197d386172b34b5135e11d6ed7475	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @PHENOTYPICFEATURE$, @DISEASE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+0aa417e6ea79f4ae6cdf2d39d2b4fbf52d19bc15	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+506cc1326bda8627f6a656a0ed22a6fec6a00c9b	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+674ea7c6364130c63e67c2ce883a5068bf7667f6	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	has_symptom
+953b77a6fe3f37f70b414046d774004e93c6c58e	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+31ebad12b6283c0d4814792873d08cac9aac2c2b	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, @DISEASE$, ptosis, and @PHENOTYPICFEATURE$.	false
+717c1b7643751612d87ce8c17ceaab5b69eb3151	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and micrognathia.	false
+996dd49498234fc2443a1f19de3838d14ec47bda	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and micrognathia.	false
+e4e85734b9c254bea7f9afdff486f99050c717bd	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	false
+f69401289489fb00bc3bc4082d43500f8f7634eb	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, telecanthus, @DISEASE$, and micrognathia.	false
+4ac226a2bdf1eb22193ab283303f03a442fce041	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	has_symptom
+e575e7808c22cf4819bae360ae0ffb8063f2a3cf	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, telecanthus, @DISEASE$, and micrognathia.	false
+5ff6e1d2b732178db9e02c7abd61243a97f03fd3	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3d40ad84ffd9dfdf1e709a138a93b4e038ab1fbc	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	false
+9768d8fef28a945bd785ea5cc158682c6e19e091	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and micrognathia.	false
+76994c9d26cdb0e7fec61c0e05a17dee9e1b5ada	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and micrognathia.	false
+0229b434abb7850471ad44d1f4204f75c40e8e83	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, @DISEASE$, ptosis, and @PHENOTYPICFEATURE$.	false
+edbf7d511aae2d40ea26b35a605e4c33362f3e08	Primary hyperoxaluria type 1 (PH1) is an orphan inborn @DISEASE$ of oxalate metabolism leading to hyperoxaluria, progressive @PHENOTYPICFEATURE$, oxalate deposition, and increased cardiovascular complications.	has_symptom
+3c4016e401972e5482fc9fd054c91aa0cc0776bf	Fabry disease is an X-linked inborn @DISEASE$ of glycolipid metabolism caused by deficiency of the human lysosomal enzyme, ?-galactosidase A (?Gal), leading to strokes, myocardial infarctions, and terminal @PHENOTYPICFEATURE$, often leading to death in the fourth or fifth decade of life.	has_symptom
+33c18b092d31f413050e7acba5dc63874f3db447	Guanidinosuccinic acid in @PHENOTYPICFEATURE$, experimental azotemia and inborn @DISEASE$ of the urea cycle.	has_symptom
+d0dcf6b3dfbaadb3d925731e922e78f4fc600551	We describe a patient with @DISEASE$, renal failure, @PHENOTYPICFEATURE$ and massive proteinuria.	has_symptom
+615098d24943add8b3e09003f497b2338445dc85	We describe a patient with membranoproliferative glomerulonephritis, @PHENOTYPICFEATURE$, @DISEASE$ and massive proteinuria.	false
+d1c25fd548b085cf4472e34e3f71899bc87ddd5c	We describe a patient with membranoproliferative glomerulonephritis, @PHENOTYPICFEATURE$, hypoalbuminemia and massive @DISEASE$.	false
+855b2e88eef493859b5d8cf51d3e42efe5b29765	We describe a patient with @DISEASE$, @PHENOTYPICFEATURE$, hypoalbuminemia and massive proteinuria.	false
+98bb96642d4fb28b5f6f813523eba62884f53c9a	Dominantly inherited @DISEASE$ (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant @PHENOTYPICFEATURE$.	has_symptom
+50c325e6a853f49e53b3f8cb3d0f1acd29c8dc12	@DISEASE$, that is, polycystic liver disease without @PHENOTYPICFEATURE$, is an entity distinct from polycystic kidney disease.	has_symptom
+98bb96642d4fb28b5f6f813523eba62884f53c9a	Dominantly inherited @DISEASE$ (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant @PHENOTYPICFEATURE$.	has_symptom
+ed9e117732ca39d61541fcf0d03bf8e598ab23c5	Ick null mouse embryos displayed cleft palate, @PHENOTYPICFEATURE$, polydactyly, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	has_symptom
+b33d8788b9bfc44a8d9862d498f3ca0464bd94b9	Ick null mouse embryos displayed @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+9509ad233d5ba95bd833e1d6f78dfbd3f38e2ed8	Ick null mouse embryos displayed cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+fb6724346f172ed5af94ed82627f19318c9d4dc4	Ick null mouse embryos displayed cleft palate, hydrocephalus, polydactyly, and @PHENOTYPICFEATURE$, closely resembling @DISEASE$ phenotypes.	false
+8030829da93ee0000542e1a44701b80fdce72b4f	Ick null mouse embryos displayed cleft palate, hydrocephalus, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	false
+057164d65873e021474d7d8e3f9b1fcbbbb38404	Ick null mouse embryos displayed cleft palate, @DISEASE$, polydactyly, and @PHENOTYPICFEATURE$, closely resembling ECO syndrome phenotypes.	false
+3f87650171add98e97449fdbf34a2faca4adc872	Ick null mouse embryos displayed @PHENOTYPICFEATURE$, hydrocephalus, polydactyly, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	false
+ef6880f7e3dc3d8e7c3465e00aa9cee9f1200bb6	Most patients remain @PHENOTYPICFEATURE$ and many develop @DISEASE$.	has_symptom
+c07b78dffb2f3cc9567be23e32eb9396889c51e0	In patients with @DISEASE$ and intracanalar osteochondroma, the neurological deficit may be masked by @PHENOTYPICFEATURE$.	has_symptom
+5b4d8a5e273eda236f2b06ae0f76571659a5b7a7	Lennox-Gastaut syndrome (@DISEASE$) is a severe epilepsy of childhood onset associated with @PHENOTYPICFEATURE$ and multiple seizure types.	has_symptom
+b97533051a63eabcbd8a2a3cb7770430af8e1d2a	@DISEASE$ (LGS) is a severe epilepsy of childhood onset associated with @PHENOTYPICFEATURE$ and multiple seizure types.	has_symptom
+baa6f9be9ed308dd39a2f5b82847e5cfde135ed3	@DISEASE$ (LGS) is a severe epilepsy of childhood onset associated with intellectual disability and multiple @PHENOTYPICFEATURE$ types.	false
+1453bcce81d27108d1f18655cc35ba4be5cb9a63	Lennox-Gastaut syndrome (@DISEASE$) is a severe epilepsy of childhood onset associated with intellectual disability and multiple @PHENOTYPICFEATURE$ types.	false
+e0f93b7017aca1fc3db1ec56184cb275ddc306f0	Lennox-Gastaut syndrome (LGS) is a severe epilepsy of childhood onset associated with @DISEASE$ and multiple @PHENOTYPICFEATURE$ types.	false
+31efbb5ff917258da609ae71c2bf1c62a7fc2ad9	@PHENOTYPICFEATURE$ was present in 80% of the children, and 62.5% had @DISEASE$.	has_symptom
+7898a8ea52ed01ebf134a48badb19a28f3fc8398	Nonconvulsive status epilepticus--a possible cause of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+3d3a6017756f24cf567548e1ba605a7ceaffdcda	The @DISEASE$ (LGS) is an electro-clinical syndrome of early childhood that consists of @PHENOTYPICFEATURE$, intractable generalized epilepsy with multiple seizure types, and typical EEG findings.	has_symptom
+c85a02416587a1f0fc37ace70f0da088fd8bcd91	The Lennox-Gastaut syndrome (@DISEASE$) is an electro-clinical syndrome of early childhood that consists of @PHENOTYPICFEATURE$, intractable generalized epilepsy with multiple seizure types, and typical EEG findings.	has_symptom
+3a7fef8236c52c1517a213fae9e4ef35e0302a0f	The Lennox-Gastaut syndrome (LGS) is an electro-clinical syndrome of early childhood that consists of @DISEASE$, intractable generalized epilepsy with multiple @PHENOTYPICFEATURE$ types, and typical EEG findings.	false
+aed4eda487c21fc98701c688655026bd53c5e21d	The Lennox-Gastaut syndrome (@DISEASE$) is an electro-clinical syndrome of early childhood that consists of mental retardation, intractable generalized epilepsy with multiple @PHENOTYPICFEATURE$ types, and typical EEG findings.	false
+dc55f949d766e07e3df6bca683b817b909e36b57	The @DISEASE$ (LGS) is an electro-clinical syndrome of early childhood that consists of mental retardation, intractable generalized epilepsy with multiple @PHENOTYPICFEATURE$ types, and typical EEG findings.	false
+2881e07d0a1222013b8b7feadf90e77d8810ea44	An atypical case of @DISEASE$ not associated with @PHENOTYPICFEATURE$: a nosological issue.	has_symptom
+655b293416dff9ba13c7b8484eff1a59b5a497b5	In contrast, @DISEASE$ was associated with @PHENOTYPICFEATURE$, which persisted after seizure control.	has_symptom
+06583e1e117dd1511380c7c415db83006655cdf6	In contrast, @DISEASE$ was associated with mental retardation, which persisted after @PHENOTYPICFEATURE$ control.	false
+f68e3ea1bb30514ed6035af201432c76cc34fb2b	In contrast, LGS was associated with @DISEASE$, which persisted after @PHENOTYPICFEATURE$ control.	false
+e63d10569c2571062358aed4c6fca1a7269dc4ad	In many instances @DISEASE$ is treatment refractory, resulting in poor prognoses that include @PHENOTYPICFEATURE$, persisting seizures, and psychiatric conditions.	has_symptom
+59425a06991f12a2be9caff7f0f980df668541ba	In many instances @DISEASE$ is treatment refractory, resulting in poor prognoses that include intellectual disability, persisting @PHENOTYPICFEATURE$, and psychiatric conditions.	false
+2f6fdf5c093f8175e4f5d27531984d618d5af56f	In many instances LGS is treatment refractory, resulting in poor prognoses that include @DISEASE$, persisting @PHENOTYPICFEATURE$, and psychiatric conditions.	false
+aa74b66eba6660742de4e84974dee6e131ce51c8	Cutis verticis gyrata, @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	has_symptom
+f0680808eb28b127ed7438e4931e9e1bd0d01dce	Emerin is an almost ubiquitous protein which is abnormal in @DISEASE$ (EMD), a syndrome characterized by muscle weakness, joint contractures and @PHENOTYPICFEATURE$.	has_symptom
+c0327c9d6a8db039cb6d956c22442afe93a77c9d	Emerin is an almost ubiquitous protein which is abnormal in @DISEASE$ (EMD), a syndrome characterized by muscle weakness, @PHENOTYPICFEATURE$ and cardiac arrhythmia.	false
+c4f134465cb3f2d3d5ea5a7f5686781528e7d7eb	Emerin is an almost ubiquitous protein which is abnormal in @DISEASE$ (EMD), a syndrome characterized by @PHENOTYPICFEATURE$, joint contractures and cardiac arrhythmia.	false
+411cc7395a374c96eabafd08fa40f7688122f39a	Emerin is an almost ubiquitous protein which is abnormal in X-linked Emery-Dreifuss muscular dystrophy (EMD), a syndrome characterized by muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f787e92f6faa2bb812f2127fc1e8e194b9831765	Emerin is an almost ubiquitous protein which is abnormal in X-linked Emery-Dreifuss muscular dystrophy (EMD), a syndrome characterized by @PHENOTYPICFEATURE$, joint contractures and @DISEASE$.	false
+621a0f894e6ece3ad42b8fdad03c764a19aa8d08	@DISEASE$ is an autosomal recessive disorder manifest by @PHENOTYPICFEATURE$, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart.	has_symptom
+0b454e2a5759b31c4b3bcd30fba4c6c778a3a790	@DISEASE$ is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, @PHENOTYPICFEATURE$ and teeth, and an approximately 60% incidence of congenital malformations of the heart.	false
+62ec2fb7c33c4cb2e2dee6bd0648486dc2c59851	Ellis - van Creveld syndrome is an autosomal recessive disorder manifest by @DISEASE$, thoracic dystrophy, postaxial polydactyly, @PHENOTYPICFEATURE$ and teeth, and an approximately 60% incidence of congenital malformations of the heart.	false
+037b27e322d1d03454ad116710171c89a8b516e4	@DISEASE$ (Ellis-van Creveld syndrome) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, postaxial polydactyly, ectodermal defects, and congenital heart disease.	has_symptom
+4d497585fc5806812521ffb72e67c00e4be6a9f9	Chondroectodermal dysplasia (@DISEASE$) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, postaxial polydactyly, ectodermal defects, and congenital heart disease.	has_symptom
+7e900d71f8480b5ce557f5e6d681d03f6d0cc809	@DISEASE$ is an autosomal dominant disorder of craniofacial development the features of which include @PHENOTYPICFEATURE$ and cleft palate.	has_symptom
+18a1b1a71c0c42e809db2a47f9a4752ec8a335d2	@DISEASE$ is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and @PHENOTYPICFEATURE$.	false
+6c3452dea7e0045f725328e425c6b320db301882	Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development the features of which include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+781e8bfb062e548900d3b928fba8fcdcdd071bac	@PHENOTYPICFEATURE$ is a common feature of the @DISEASE$.	has_symptom
+190144de403ab8f06fd8e30bcc7e663c158ae00e	@DISEASE$ is an autosomal dominant disorder of craniofacial development, the features of which include @PHENOTYPICFEATURE$ and cleft palate.	has_symptom
+0262834fa49e09ae7bb25713eed8bf9f37e35dde	@DISEASE$ is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and @PHENOTYPICFEATURE$.	false
+c84eeeb1bf8ebd805653ee3db5979a5da9e35600	Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8f527a6a5c9b514b99f6394cc50a58f4898ad4b6	@DISEASE$ is an autosomal dominant disorder of facial development, the features of which include @PHENOTYPICFEATURE$ and cleft palate.	has_symptom
+c1b7f68caabac9bb7ac3c3dfdec46810beab8f2f	@DISEASE$ is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and @PHENOTYPICFEATURE$.	false
+4180a9786deb173a1cf1277c23ef448d39c9cb06	Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+96e665accb5cd9ba02b933aad9df60fbf2deef7a	Treacher Collins syndrome is an autosomal dominant @DISEASE$ development, the features of which include conductive hearing loss and @PHENOTYPICFEATURE$.	false
+4314c282f23869fe87710b8249175c5694c9eca1	Fully implantable hearing device as a new treatment of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+cba5809ef0c81a4018fc6a1626a83c0634dc1b72	The objective is to investigate a new therapeutic option for treatment of @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+269c24d5b55190511ded933662cffafe76b1c16f	Consequently, 50% of patients with @DISEASE$ have a congenital, generally pure @PHENOTYPICFEATURE$ resulting from a major or minor ear anomaly.	has_symptom
+107659b9ea1c8815e627ebd9c0f02b146bc9249a	Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure @DISEASE$ resulting from a major or minor @PHENOTYPICFEATURE$.	false
+62672c81028e4d4acd3edc46a0b558a2d9d271e6	Consequently, 50% of patients with @DISEASE$ have a congenital, generally pure conductive hearing loss resulting from a major or minor @PHENOTYPICFEATURE$.	false
+afdf5782a0c738a1c62c39c7f44018d4ffa732f2	She is expected to be of normal intelligence but, as is typical for @DISEASE$, has @PHENOTYPICFEATURE$ and therefore is at risk for developmental delay.	has_symptom
+1cc297b046f47211f1031f6e5a9bcea4a8132ba5	@PHENOTYPICFEATURE$ and palatopharyngeal incompetence in the @DISEASE$.	has_symptom
+190144de403ab8f06fd8e30bcc7e663c158ae00e	@DISEASE$ is an autosomal dominant disorder of craniofacial development, the features of which include @PHENOTYPICFEATURE$ and cleft palate.	has_symptom
+0262834fa49e09ae7bb25713eed8bf9f37e35dde	@DISEASE$ is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and @PHENOTYPICFEATURE$.	false
+c84eeeb1bf8ebd805653ee3db5979a5da9e35600	Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1385aa961e532b0e530e0bd34b72be3681a205a9	Scalp necrosis and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+6355e9e04fc2f0afc689b813adcf2ef2aa9492fb	Atypical @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a09bd14da9fe22bde2d62ae3c3f8565af8298eac	Two elderly women had catastrophic @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+89ad65661e500b3f0baf2f74c09c8eff6e4d9789	An unusual cause of @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+9c528828b4a7a326cab2b58d41b8e9e530fe6e18	Steroid therapy for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+3e758ae23c905a63b6e1d179daf7618fd03cd2ae	Acute monocular @PHENOTYPICFEATURE$ in carcinomatous hypertrophic pachymeningitis mimicking @DISEASE$.	has_symptom
+f35331b4cfb4ba09837717d90047b66033b66d89	@DISEASE$ (GCA) often presents with devastating @PHENOTYPICFEATURE$ in the elderly, yet early diagnosis and treatment can prevent visual loss.	has_symptom
+6eb9fba2bf68996f91b76c2943c58ee20ed7bcae	@DISEASE$ (GCA) often presents with devastating visual loss in the elderly, yet early diagnosis and treatment can prevent @PHENOTYPICFEATURE$.	has_symptom
+08a386f20cc57573b849fb279f14e45ffa99d78f	Subacute @PHENOTYPICFEATURE$ and bilateral fixed mydriasis: an atypical case of @DISEASE$.	has_symptom
+3e758ae23c905a63b6e1d179daf7618fd03cd2ae	Acute monocular @PHENOTYPICFEATURE$ in carcinomatous hypertrophic pachymeningitis mimicking @DISEASE$.	has_symptom
+52be1736942ed9664710baa72c6379cca7253284	@DISEASE$, described in 1945, consists of nonsyphilitic interstitial keratitis accompanied by rapidly progressive bilateral hearing loss, @PHENOTYPICFEATURE$, and vertigo.	has_symptom
+038dc6f9adee99b0c4fb6f150a9b7e0d05898080	@DISEASE$ is a rare syndrome manifested by nonsyphilitic interstitial keratitis and audiovestibular symptoms including hearing loss, @PHENOTYPICFEATURE$, and vertigo.	has_symptom
+f62ba1f94aa72542dc5a3cb88657064f04241f10	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial keratitis and attacks of vertigo, @PHENOTYPICFEATURE$, and hearing loss.	has_symptom
+b50147fb3c915a38e677cf7b4e0db7fdba995df9	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial keratitis and attacks of @PHENOTYPICFEATURE$, @DISEASE$, and hearing loss.	false
+fc07f2fd4afd8768f6e2ee7a0ed40e848307307e	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of vertigo, tinnitus, and hearing loss.	false
+6b118cea50dc2b5f42bc4718f7174c16a92a7c92	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial keratitis and attacks of @PHENOTYPICFEATURE$, tinnitus, and @DISEASE$.	false
+441c1cb015d387bc6fed9fe99512b2a72c48a87a	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of vertigo, tinnitus, and @DISEASE$.	false
+de1cba15779d9464b5a2a554078bb7418db7b11a	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of vertigo, @DISEASE$, and hearing loss.	false
+1ec62511e3b23a6bcb263e7c062de8b5819c832e	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial keratitis and attacks of @PHENOTYPICFEATURE$, tinnitus, and hearing loss.	false
+8fcb98ea53310ecb2b4e89c25541158391457ce1	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, @PHENOTYPICFEATURE$, vertigo and hearing loss).	has_symptom
+ca8d6e8dca6a11a62cd78583060b975b4863e2e3	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, @DISEASE$, vertigo and hearing loss).	false
+33d856b72432e2e1b747a9110c3f8a1506940afe	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, tinnitus, vertigo and hearing loss).	false
+3515d8fbbb0867903dd7dca2b379d4ac727436d3	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, tinnitus, @PHENOTYPICFEATURE$ and hearing loss).	false
+d5a251e13b2f5a5d2598a95c7994ed4f775e587f	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, tinnitus, @PHENOTYPICFEATURE$ and @DISEASE$).	false
+93f5015df3af37c44e772ab882d08ea2c4889d01	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, @DISEASE$, @PHENOTYPICFEATURE$ and hearing loss).	false
+213258b78411d7d16ab09da43c17fd307335c62d	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, tinnitus, vertigo and @DISEASE$).	false
+77c8c0401b16d33fc83357df6c1ecf2c17383757	Methods PubMed and Google Scholar searches were performed using the following keywords: "auto-immune disease," "systemic lupus erythematosus (SLE)," "hearing loss," "temporal bone study," "vertigo," "dizziness," "@PHENOTYPICFEATURE$," "ear symptoms," "treatment," "diagnosis," "symptoms," "etiopathogenesis," "Wegener granulomatosis," "Sjogren," "polyarteritis nodosa," "@DISEASE$," and "granulomatosis."	has_symptom
+e41b5b108b2fb5e3160c0257b69875d14de4b5d3	@DISEASE$ is characterized by a non-luetic interstitial keratitis associated with vertigo, @PHENOTYPICFEATURE$ and profound deafness.	has_symptom
+4af3e5e58945323a32a336ea90c1cb62897f41b0	@DISEASE$ is characterized by a non-luetic interstitial keratitis associated with vertigo, tinnitus and profound @PHENOTYPICFEATURE$.	false
+3a6ef356aec4c9e130898b4e7a7824f1fd15dfee	@DISEASE$ is characterized by a non-luetic interstitial keratitis associated with @PHENOTYPICFEATURE$, tinnitus and profound deafness.	false
+a6fdad37303750cce51d22e57e4dff54a7a8ee1f	Cogan's syndrome is characterized by a non-luetic interstitial keratitis associated with vertigo, @DISEASE$ and profound @PHENOTYPICFEATURE$.	false
+87fb98eee18cbab834dd42054a75f215401c94e1	Cogan's syndrome is characterized by a non-luetic interstitial keratitis associated with @PHENOTYPICFEATURE$, @DISEASE$ and profound deafness.	false
+7492212bd8ba87f5322dd3c2f1966febe8c8e214	@DISEASE$ (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of vertigo, @PHENOTYPICFEATURE$, and hearing loss.	has_symptom
+3b3db8f0fa09da52cdf038b9df5c64947ca45f6b	Cogan's syndrome (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of @PHENOTYPICFEATURE$, tinnitus, and @DISEASE$.	false
+b54d604dcfd291505c0f808890504997bd4ed808	@DISEASE$ (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of @PHENOTYPICFEATURE$, tinnitus, and hearing loss.	false
+7b92527a5a181c432b20ff16c6f169dd45ced364	Cogan's syndrome (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of @PHENOTYPICFEATURE$, @DISEASE$, and hearing loss.	false
+4e6a468f35a01cf27a8d65da3ed1a3207709e1c3	@DISEASE$ is a rare disorder that is characterized by a rapid onset of bilateral severe sensorineural hearing loss associated with vertigo and @PHENOTYPICFEATURE$, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	has_symptom
+f1db12897114ae3cac27e11d22db9a2d13f6e361	@DISEASE$ is a rare disorder that is characterized by a rapid onset of bilateral severe sensorineural hearing loss associated with @PHENOTYPICFEATURE$ and tinnitus, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	false
+a454ec4fd603d87eb3fd195fadbfe28e28c18a4e	Cogan's syndrome is a rare disorder that is characterized by a rapid onset of bilateral severe @DISEASE$ associated with @PHENOTYPICFEATURE$ and tinnitus, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	false
+9fb8766b7f219db7f0fea2c754f8f6d610a0c044	Cogan's syndrome is a rare disorder that is characterized by a rapid onset of bilateral severe sensorineural hearing loss associated with @PHENOTYPICFEATURE$ and @DISEASE$, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	false
+fe2b5baf43acb3501e64a4fb3937f2d928b57fc1	We describe a case of @DISEASE$ in a 19-year-old woman with @PHENOTYPICFEATURE$, deafness, interstitial keratitis, and complicating aortic insufficiency and coronary stenosis.	has_symptom
+bca649381d9206e96482435712134738f02fb8b0	We describe a case of Cogan's syndrome in a 19-year-old woman with @DISEASE$, @PHENOTYPICFEATURE$, interstitial keratitis, and complicating aortic insufficiency and coronary stenosis.	false
+7783dfb78bf7127d81620f265eebd3801062007a	We describe a case of @DISEASE$ in a 19-year-old woman with tinnitus, @PHENOTYPICFEATURE$, interstitial keratitis, and complicating aortic insufficiency and coronary stenosis.	false
+9238e18f3b195965966d7162e09ef62ea5b87de0	A 2,000-g infant boy had many features of the @DISEASE$ (prenatal growth deficiency and developmental retardation, @PHENOTYPICFEATURE$ with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea.	has_symptom
+1b00aba587fd312f5a1ed0a99c40b51ca829f66b	A 2,000-g infant boy had many features of the @DISEASE$ (prenatal growth deficiency and developmental retardation, microcephaly with @PHENOTYPICFEATURE$, hypospadias, and feeding difficulties) as well as sclerocornea.	false
+ce8a6b1e5d48519bf64d3da53a021a57fa40d6a2	A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, @DISEASE$ with @PHENOTYPICFEATURE$, hypospadias, and feeding difficulties) as well as sclerocornea.	false
+7d4afe48aed3f9ee4aaaac7401188500b8a90a8e	@DISEASE$ (SLOS) is an autosomal recessive malformation syndrome characterized by @PHENOTYPICFEATURE$, syndactyly of toes, ambiguous genitalia, and mental retardation.	has_symptom
+65fdb5652f331779b90e074feb94bdf2643a91e6	@DISEASE$ (SLOS) is an autosomal recessive malformation syndrome characterized by microcephaly, syndactyly of toes, ambiguous genitalia, and @PHENOTYPICFEATURE$.	false
+e8889b18f50c736106dc4be6a737e0c661da5917	Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive @DISEASE$ characterized by microcephaly, syndactyly of toes, ambiguous genitalia, and @PHENOTYPICFEATURE$.	false
+9bbf5e3fcedae2484e3ccfb12d9f51837ae4e72f	Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by @DISEASE$, syndactyly of toes, ambiguous genitalia, and @PHENOTYPICFEATURE$.	false
+91fbc102343bd9b96be7872fceb4a5b04ea9780e	The @DISEASE$ is characterized by striking craniofacial features, @PHENOTYPICFEATURE$, mental deficiency, growth retardation, 2-3 syndactyly of the feet, and genital malformations.	has_symptom
+ef4eff6b00a06a19a4d48781182ee22d003ba745	The Smith-Lemli-Opitz syndrome is characterized by striking craniofacial features, @DISEASE$, mental deficiency, @PHENOTYPICFEATURE$, 2-3 syndactyly of the feet, and genital malformations.	false
+06fa20f7be9f58e568c742224970e67ce32f8ea3	The @DISEASE$ is characterized by striking craniofacial features, microcephaly, mental deficiency, @PHENOTYPICFEATURE$, 2-3 syndactyly of the feet, and genital malformations.	false
+155c2c2f3050b94df11c1fe3e54e0e27b81a7346	The Smith-Lemli-Opitz syndrome is characterized by striking craniofacial features, @DISEASE$, @PHENOTYPICFEATURE$, growth retardation, 2-3 syndactyly of the feet, and genital malformations.	false
+d7eceae92aa182923e534eae122ad8dc8a72faf6	The @DISEASE$ is characterized by striking craniofacial features, microcephaly, @PHENOTYPICFEATURE$, growth retardation, 2-3 syndactyly of the feet, and genital malformations.	false
+5a0ea687393302dcb9e2c1f5867e5abc25a49d3b	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @PHENOTYPICFEATURE$, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	has_symptom
+a4c21aabd1a35b5a78f7f357a60c536563e2293a	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic @DISEASE$ anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+94a52c1796ea9fdf275e5b074e42318faf56fee7	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and @PHENOTYPICFEATURE$, characteristic @DISEASE$ anomalies, midline cleft palate, and genital and limb anomalies.	false
+148fa686cd6c54f20abb4d77d81ab0ee05773eec	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and @PHENOTYPICFEATURE$, characteristic facial anomalies, midline @DISEASE$, and genital and limb anomalies.	false
+7af16046233dcba877f1ec61e2f23a650ba4fca7	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline @DISEASE$, and genital and @PHENOTYPICFEATURE$.	false
+edf77aaed0dd9f1847c574afc83773a3f0d21217	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @DISEASE$, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+83c256ddc241f6cde7868f129ddfd184acb0c559	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive @DISEASE$ comprising microcephaly, developmental and @PHENOTYPICFEATURE$, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	false
+71f33cc98285ed0bc39a99d228c70594e851d587	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive @DISEASE$ comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+70333099861ef0f9bc20b7b1f18b37405b2b02a3	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @DISEASE$, developmental and @PHENOTYPICFEATURE$, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	false
+025e8f2ee1f9d666b30187b55b1826d726813884	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and @PHENOTYPICFEATURE$, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	false
+7eef7bfe96f61a94c6cee58a6ce18672dc38910a	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+b941a4707a39047cc049bc4f9507e20162c96269	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	has_symptom
+67dd052b36c78a397c8a82d49e0ffc7395fd5e6b	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+034908653f65db9ed5d1e2b672461b08810f2465	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2ba6191635b880d1d18f61a2bf820b032f7a36ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7bfdee852380011d4e563bd7c953f993e7570135	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8ae9ce05e8a4ffb24edcfe6cdfb35a38192ef59c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+9a6a95b167f8d4a7de6296b388ec02de89dd06f4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8e586b2190e86e4b33b6fcb0bf321224ded68a57	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+06429b835a1c3c3a72fe3461b311608226d61c48	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+bdcfaffe0b28dd502200697d77a355b0c7ec1bd8	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+3644d0af0a103f7ec5179fea39b7b6aaa3604872	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (@PHENOTYPICFEATURE$, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	has_symptom
+1ea1ca853f9c0f504e3220349b0d0bf98f6346af	Smith-Lemli-Opitz syndrome is a recessive @DISEASE$ characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+19911e77e3c8320e65a074622f7275263ad27eeb	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (@DISEASE$, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+d8671febbb171000b552b73089d3f8bf7c10c306	Smith-Lemli-Opitz syndrome is a recessive @DISEASE$ characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and @PHENOTYPICFEATURE$.	false
+0426410256b2a6795639105bf3022bb58fac7e30	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (@DISEASE$, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+fffeb3b7b0fa919da995665ea8d98ad33af84af6	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and mental retardation), male @DISEASE$, finger anomalies, and @PHENOTYPICFEATURE$.	false
+95fd7f35d926b8eae72234e5a1bdf3cadc8d53b9	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+2f7f0468b0d8b5cb6fbbbc4fab72fc2189257c51	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male @DISEASE$, finger anomalies, and failure to thrive.	false
+630d286af891fef9ee9c73d19027ca16d996b315	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (@DISEASE$, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and @PHENOTYPICFEATURE$.	false
+a0f2d950ba9e15a8c958d4db76c56ed511542b09	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+336bd015687b99abcddb3efa97a60a567c66103d	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male @DISEASE$, finger anomalies, and failure to thrive.	false
+a4d50c28cefb3c16cc1e67eadd469bd8da349cbd	Smith-Lemli-Opitz syndrome is a recessive @DISEASE$ characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+a2b9c6d7d561b0d51059f27ae720ba6736205733	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and @PHENOTYPICFEATURE$.	false
+ba64eb41c5ddcea4a39540a4fa289e199e8d0426	She had personality changes, speech and @PHENOTYPICFEATURE$, diffuse rigidity, dementia, and a well-documented family history of @DISEASE$.	has_symptom
+766e82be12a3fd33efc692ae26501a1b2616df43	As further validation, we studied performance in mutant models of progressive neurodegenerative diseases--@DISEASE$ [TgN(HD82Gln)81Dbo; referred to as HD mice] and amyotrophic lateral sclerosis [Tg(SOD1G93A)(dl)1/GurJ; referred to as SOD1 mice]--and in a mutant strain with subtle @PHENOTYPICFEATURE$, C-Snap25(Bdr)/H (Blind-drunk, Bdr).	has_symptom
+37f5f8c875c23770bbc4a8038b74e93f2989b164	@DISEASE$ (HD) pre-manifest mutation carriers (PMCs) present early-onset @PHENOTYPICFEATURE$.	has_symptom
+3181d4d95e1b991b3fcb3266f6f7816418180949	Quantifiable bradykinesia, @PHENOTYPICFEATURE$ and @DISEASE$-like striatal lesions in rats chronically treated with 3-nitropropionic acid.	has_symptom
+8b0dbb50e05e6cda85717e33a584c59468ad7fa6	Analysis of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+82020453e22d16fc92994acd15514826dacbb807	@PHENOTYPICFEATURE$ was found by magnetic resonance imaging in all ten patients and @DISEASE$ in four patients.	has_symptom
+d33da5ae0b8ab15b8c78c69ccbe65a7a2a70acaa	@DISEASE$ and @PHENOTYPICFEATURE$ vascular disease.	has_symptom
+2bdc3cc2a8ff77473489b9fd2557a10fb784966d	@DISEASE$ is a @PHENOTYPICFEATURE$ pregnancy disorder, in which generalized systemic inflammation and maternal endothelial dysfunction are involved in the pathophysiology.	has_symptom
+9dd7b26d3d90cd7e9a2b45a1d5c1903b7f4acaf0	@DISEASE$ (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$.	has_symptom
+a122f3849ab6df0755d627a3658f37db26ce4c3e	Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital @DISEASE$, @PHENOTYPICFEATURE$, and dental abnormalities.	false
+ed0c353108ce9d7a5f76cc17e2810e4daa6906fa	Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bc67d8113c6df5f3ea91be86cfc272b5ce44eed6	@DISEASE$ (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, @PHENOTYPICFEATURE$, and dental abnormalities.	false
+828317c5a3b707105d68328ff7c0aec4de7ea4ae	@DISEASE$ is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and @PHENOTYPICFEATURE$.	has_symptom
+7b4e323f3cd14291ca014f9f84b83320142b0cfc	@DISEASE$ (NHS) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features and mental retardation.	has_symptom
+b8562a85c258789355e288f0e9927119c4b2b4d4	Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital @DISEASE$, dental anomalies, dysmorphic features and @PHENOTYPICFEATURE$.	false
+a6e41c2fb60b2e5f44dd67fb72eb5248d624870a	@DISEASE$ (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features and @PHENOTYPICFEATURE$.	false
+a12c8da9e1ce4edf6c1b59e9952abb88c2bdcdf5	Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, @DISEASE$, dysmorphic features and @PHENOTYPICFEATURE$.	false
+0345ea7552907ce9ac566c09438b1ff5bedb72ed	@DISEASE$, characterized by congenital cataracts, craniofacial, @PHENOTYPICFEATURE$ and mental disturbances, is an X-linked disorder with significant phenotypic heterogeneity.	has_symptom
+7d006a51911124646eefbb169f2ab8aecf43d51b	@DISEASE$ is typically characterized by severe bilateral congenital cataracts and @PHENOTYPICFEATURE$.	has_symptom
+135c945d3d73815a3c82aaeadf34d29d5d626de6	@DISEASE$ (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, @PHENOTYPICFEATURE$ and facial dysmorphisms.	has_symptom
+e7e21de45a08d16351837f56120cdaa1321da0ac	@DISEASE$ (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and @PHENOTYPICFEATURE$.	false
+0a38355b9b529e9325dae0b182f2ef19b9037182	Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital @DISEASE$, dental anomalies and @PHENOTYPICFEATURE$.	false
+197360ef487f31e64c005a1f7a9859d85a1601e6	Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9a8a44e8ecb886c97a0dacbaec48e791756db363	The @DISEASE$ of @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, and anteverted pinna: case report.	has_symptom
+123a84b3171ebffbfd11b795c008caf8e729d82e	The @DISEASE$ of dental anomalies, congenital cataracts, @PHENOTYPICFEATURE$, and anteverted pinna: case report.	false
+9d20d86347db2916a837ef172495f7aee92f5279	The Nance-Horan syndrome of @DISEASE$, congenital cataracts, @PHENOTYPICFEATURE$, and anteverted pinna: case report.	false
+9d61b0565d5a3b377bb15fb6b1c57a73551697e3	The Nance-Horan syndrome of dental anomalies, congenital @DISEASE$, @PHENOTYPICFEATURE$, and anteverted pinna: case report.	false
+e84a3b5df87df625e2d9a2eb131586cb17be609b	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, @PHENOTYPICFEATURE$, facial dysmorphism, and intellectual disability.	has_symptom
+a7d51797f94968cee71f77c5bdbd10f75d9192ca	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+1fc655c977fc6ec8a3e3fc66e9bc4f27553e61d6	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, @PHENOTYPICFEATURE$, and intellectual disability.	false
+03745c1c2f31ad64ff794e6c76fca288deaf625d	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, @DISEASE$, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+956a62f46cf57db8526603f8ef43c92a7e4108d3	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital @DISEASE$, dental anomalies, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+406b88d0bad4772cedf1c67f2cef1d45083c77d3	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital @DISEASE$, dental anomalies, @PHENOTYPICFEATURE$, and intellectual disability.	false
+69c6c4c4def4062b3689452a6ff68f6bbf20badd	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, @DISEASE$, @PHENOTYPICFEATURE$, and intellectual disability.	false
+f32634b1e12bb755272e8041b3594d0a40fabfc6	@DISEASE$ (NHS) is a rare X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+caf761cd6790a1868b71669ea0d1439b1b46a66b	@DISEASE$ (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and @PHENOTYPICFEATURE$.	false
+4047e76c0faa0018f32e09097a1f95f7a709f1e0	Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital @DISEASE$, dental anomalies and @PHENOTYPICFEATURE$.	false
+66c85a7695051eaea23a57c48749c92585cedc82	Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f1321658369f57f5a9108248db3dc7debea99101	@DISEASE$ (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, @PHENOTYPICFEATURE$, and craniofacial dysmorphisms.	has_symptom
+4117bda7ebed90c97a6a36ae61b0c0e433be28c0	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with @PHENOTYPICFEATURE$, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling @DISEASE$.	has_symptom
+135d7a7ed4bb2bc6c72590433ae9f95d964bf779	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with @DISEASE$, @PHENOTYPICFEATURE$, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome.	false
+21cb8f5702f1c6f1cdac392b43c104f2c7d798f0	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, @PHENOTYPICFEATURE$, and normal motor and cognitive development resembling @DISEASE$.	false
+ac8e0c3cca355e5470926ff5205ec049a6273ec9	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, @PHENOTYPICFEATURE$, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling @DISEASE$.	false
+07206dffb3336d7144d0115c876085c8c313a2d9	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with @DISEASE$, skeletal dysplasia, immunological abnormalities, @PHENOTYPICFEATURE$, and normal motor and cognitive development resembling SOPH syndrome.	false
+76cbb7d1da924921bd94bfbe7dfc3b976fab1824	@DISEASE$ (@PHENOTYPICFEATURE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	has_symptom
+76783b0bf8ab90023d5ba3af6731b2d87ec1d1c2	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @PHENOTYPICFEATURE$, and Pelger?Hu?t anomaly of neutrophils.	false
+a33bb5b36606a2bb03383f230b49d022c9f9fd05	SOPH syndrome (@DISEASE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+0ab5366b887d2e308d9194d7ae0f411525d7e5a7	SOPH syndrome (@DISEASE$ with @PHENOTYPICFEATURE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+cec76dd4e6006e414127c180f5771819a8faf391	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+d44d052e43b757bcd4a3f97c0a64aafebd217d96	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @PHENOTYPICFEATURE$, and Pelger?Hu?t anomaly of neutrophils.	false
+b8b15d6d3e541b2e0d1a4507aee532f83331aa3f	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+225ba4af2e141bdb8fd34948eeecac0a1d703ae4	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+2e980c6fde3f1b0bd0ca682e02d0afad32c7863c	SOPH syndrome (Short stature with @PHENOTYPICFEATURE$ and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+6f3cea81068c4b2b5a223e0ceaec1ed328c199d2	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+24d399bdf8ef664449fc64667bfa32d66f1c94d1	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+70c3f027427505e1e32a81975fae68cefcfa2ddb	SOPH syndrome (@DISEASE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @PHENOTYPICFEATURE$, and Pelger?Hu?t anomaly of neutrophils.	false
+9312dcaba5add8b563f138ed1da94f32ea4cc018	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+5385667c9cc496991616023840dc8b54b4335af7	SOPH syndrome (Short stature with @PHENOTYPICFEATURE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+24221d9df6c89fdfd906c869af45e4db6e284362	SOPH syndrome (@DISEASE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+313007862650646950fb97494be6e0a6eded1d89	@DISEASE$ (Short stature with @PHENOTYPICFEATURE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+326cc58e436f5e391394ec99d720e1025ee6ad9d	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @PHENOTYPICFEATURE$, and Pelger?Hu?t anomaly of neutrophils.	false
+c412bccb27efea47c0eca932129a2673b2b74ee7	Homozygous missense NBAS variants cause @DISEASE$ (@PHENOTYPICFEATURE$; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	has_symptom
+39c36fa736836e37c7d93df2b03f0e966117779c	Homozygous missense NBAS variants cause SOPH syndrome (short stature; @PHENOTYPICFEATURE$; @DISEASE$), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+3e377e659569fcf9f12f13f6a1d234f337d38323	Homozygous missense NBAS variants cause SOPH syndrome (@DISEASE$; @PHENOTYPICFEATURE$; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+d60f95b6cb32f9a13f229da7daced250b980717a	Homozygous missense NBAS variants cause @DISEASE$ (short stature; @PHENOTYPICFEATURE$; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+b81cf278e081ec51bb9badddd06794b0a7694991	There is only a single previous report of DNM1L-related clinical disease: a female neonate with @DISEASE$ (EMPF; OMIM #614388), a lethal disorder characterized by cerebral dysgenesis, @PHENOTYPICFEATURE$, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes.	has_symptom
+1c0a869cc6658706d294edd8e04a763bfed57ca7	A 41-day-old infant who had severe metabolic acidosis, @PHENOTYPICFEATURE$, bleeding, hypoglycemia, and proximal tubulopathy was diagnosed with @DISEASE$.	has_symptom
+f9939432cc66ddd11b075eafad84f42886dc1048	The Gardner-Silengo-Wachtel or @DISEASE$: male pseudohermaphroditism with micrognathia, @PHENOTYPICFEATURE$, and conotruncal cardiac defect.	has_symptom
+1184fe4e50bd6b4a3af645f9c83fa2c3ff17483b	The Gardner-Silengo-Wachtel or @DISEASE$: male pseudohermaphroditism with @PHENOTYPICFEATURE$, cleft palate, and conotruncal cardiac defect.	false
+540d94fbb7f72b660603ee85308528ff09f0580a	The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with @PHENOTYPICFEATURE$, @DISEASE$, and conotruncal cardiac defect.	false
+d34080114a675615db3f96b7c45968363867462e	Recently, @DISEASE$ (SSS) and a group of syndromes known collectively as the acromelic dysplasias, which typically result in @PHENOTYPICFEATURE$, skin thickening and joint stiffness, have been linked to FBN1 mutations that affect specific domains of the fibrillin-1 protein.	has_symptom
+ebf6a17209ef1ca6a32878e00aec8ce17af78ccc	Adamantiadis-@DISEASE$ constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @PHENOTYPICFEATURE$, central nervous system disorders as well as ulcerations of the epidermis, nodular erythema, thrombophlebitis and vision disorders.	has_symptom
+b03d8e8f58e0744fb31f1b624b12c6aa43ef9a4d	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative arthritis, @DISEASE$ as well as ulcerations of the epidermis, nodular @PHENOTYPICFEATURE$, thrombophlebitis and vision disorders.	false
+68efa07ccbace8dbe8f1339ce3f1bead4cecc001	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative arthritis, central nervous system disorders as well as ulcerations of the epidermis, nodular @PHENOTYPICFEATURE$, @DISEASE$ and vision disorders.	false
+9fd3ae03bf6199d111aa47dbc197dfb27d954e07	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @DISEASE$, central nervous system disorders as well as ulcerations of the epidermis, nodular @PHENOTYPICFEATURE$, thrombophlebitis and vision disorders.	false
+4f908fbea727bb325b353594cec1f6f6f31e6fd4	Adamantiadis-@DISEASE$ constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative arthritis, central nervous system disorders as well as ulcerations of the epidermis, nodular @PHENOTYPICFEATURE$, thrombophlebitis and vision disorders.	false
+a08a0af15e1db4d28cfedc5aa998c71c644b6994	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative arthritis, central nervous system disorders as well as ulcerations of the epidermis, nodular @PHENOTYPICFEATURE$, thrombophlebitis and @DISEASE$.	false
+9c783a6153c511f91e294a2d31c9260ad5cf502f	Five patients with @DISEASE$-associated RCH with exudative changes and @PHENOTYPICFEATURE$.	has_symptom
+dbac95f0d44fec218c9915ebcde8d005ab6508aa	The location of missense mutations in the @DISEASE$ gene correlates significantly with the prevalence and phenotype of ocular disease, and as such, influences the risk of @PHENOTYPICFEATURE$ in affected patients.	has_symptom
+8810ab10eefbbdc981c5fd6bb50da534fa9b61b5	Laser photocoagulation of papillary hemangioma in @DISEASE$ often causes @PHENOTYPICFEATURE$.	has_symptom
+13fc04dba4062384189692dc25ee0f5d5e6c1808	One week after admission, she developed grand mal seizures and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ (TTP) when fragmented red cells were found on the peripheral blood smear.	has_symptom
+40482eb2de946d1503dca8a04afad9901037cb4c	One week after admission, she developed @PHENOTYPICFEATURE$ and coma and was diagnosed with @DISEASE$ (TTP) when fragmented red cells were found on the peripheral blood smear.	false
+cd9ea11c9566dbf051684359bd48c9497ad9be02	One week after admission, she developed @PHENOTYPICFEATURE$ and @DISEASE$ and was diagnosed with thrombotic thrombocytopenic purpura (TTP) when fragmented red cells were found on the peripheral blood smear.	false
+656610fb7e926644803c8c7cf709c785b8d8fbf1	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, cryptorchidism, and developmental delay.	has_symptom
+d9a82362de32523902c93d51bb79f8c6fdfaeff1	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+be45e133799d173407ba6766baff1dfc1cdd4cdb	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+9daf239bc04d58b9ea36ff94ec694800ec481596	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), @DISEASE$, cryptorchidism, and developmental delay.	false
+837348d278c42b4c05d33a6eb1bf1b6f884d71dc	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @DISEASE$, cryptorchidism, and developmental delay.	false
+3868546222cb8c99a4fd2437634ed3d1376c253f	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+5f2135d19ce1dffaedc97d845c4e294153500f46	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+5a1bf6ee27aa514d8d7fe5eaf86442574d35caf0	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @DISEASE$, cryptorchidism, and developmental delay.	false
+c4661f909732361f3213a482ea3f5a67103938a3	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+66e8ffb2c4613b519a33be5a80efe9015a3bdaf7	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (micrognathia, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+3c5d53753f2f46ba903d25ac67a18aa7c99a541c	@DISEASE$ is an autosomal dominant inherited multiple malformation disorder typically characterized by coloboma, choanal atresia, hypoplastic semicircular canal, cranial nerve defects, @PHENOTYPICFEATURE$ and ear abnormalities.	has_symptom
+e0fb92f63dd2919a0f549962017c45366470fc91	He developed @DISEASE$ associated with @PHENOTYPICFEATURE$ during sleep.	has_symptom
+7123e02e5a2a72f611270b871983ce01dced8119	Clinical features of @DISEASE$ include craniofacial anomalies (@PHENOTYPICFEATURE$, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	has_symptom
+898bd8cac346574db7fcf0f5f35370f4bfbe62a6	Clinical features of 3C syndrome include craniofacial anomalies (@DISEASE$, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+5cf60d166db5f58b4935d435a3eea7813c3e3402	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+81d302a9c7ccf66561b0d8ec1a4df3c94155b104	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+f897e212883c4b592cd9625659a3cfe41c395d61	Clinical features of 3C syndrome include craniofacial anomalies (@DISEASE$, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @PHENOTYPICFEATURE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+33acc649e6231eea1b763fedaa4bf3ddab256efc	Clinical features of 3C syndrome include craniofacial anomalies (@DISEASE$, prominent forehead and occiput, foramina parietalia, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+0aa1dcdb19722efd98624ffdb9b49b1e5273333f	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @PHENOTYPICFEATURE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+3c3442cbd40bdeffacb67c5681bc5ef3b115dd61	Serum samples were obtained from 1000 patients (age range: 15-65 years; 652 of them were women) presented with @DISEASE$-like symptoms, including fever, headache, night sweats, appetite loss, weakness, @PHENOTYPICFEATURE$ and myalgia.	has_symptom
+eb6d090f6c0df32f53c7720d5ccf3f8482068b8b	Serum samples were obtained from 1000 patients (age range: 15-65 years; 652 of them were women) presented with @DISEASE$-like symptoms, including @PHENOTYPICFEATURE$, headache, night sweats, appetite loss, weakness, arthralgia and myalgia.	false
+73af23a4e70ad8d994624689ff2de4b1d258a249	Serum samples were obtained from 1000 patients (age range: 15-65 years; 652 of them were women) presented with brucellosis-like symptoms, including @PHENOTYPICFEATURE$, headache, night sweats, appetite loss, weakness, @DISEASE$ and myalgia.	false
+683b05b1b44753fa5d65973d8ec3cce8abc9e64a	@DISEASE$ patients present various non-specific clinical symptoms, such as fever, fatigue, sweating, @PHENOTYPICFEATURE$, arthritis, myalgia, and headache.	has_symptom
+94d38efd090f26e013c3201f65ee7263ad455d3c	Neurocritical care complications of pregnancy and puerperum such as preeclampsia/eclampsia, hemolysis, elevated liver enzymes, low platelets syndrome, @DISEASE$, @PHENOTYPICFEATURE$, ischemic and hemorrhagic stroke, postpartum angiopathy, cerebral sinus thrombosis, amniotic fluid emboli, choriocarcinoma, and acute fatty liver of pregnancy are rare but can be devastating.	has_symptom
+4badba67967fb374ce86da41728706b96c266037	Infection with the enteric pathogen enterohemorrhagic Escherichia coli (EHEC) causes a variety of symptoms ranging from nonbloody diarrhea to more severe sequelae including hemorrhagic colitis, altered sensorium and @PHENOTYPICFEATURE$, and even life-threatening complications, such as hemolytic uremic syndrome and @DISEASE$.	has_symptom
+8307e7827a990862c52cf3ce94ff1fa169866c86	The paper presents the case of a 23 years old patient diagnosed with @DISEASE$ on the basis of increased body temperature, thrombocytopenia, microangoipathic hemolytic anemia, renal function disorders and a rapid development of coma after the @PHENOTYPICFEATURE$ of Jacsonian type.	has_symptom
+d12040ecbe13a316f8466465cd02826b7cb9fea7	We describe a patient with @DISEASE$ who had a clinical @PHENOTYPICFEATURE$, intermittent stupor, and a declining course despite aggressive treatment.	has_symptom
+03f2efc6ccb0e9a9436ac30795fbc056792886fc	Contrast-induced @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+6304060c8ee2b3c669a9224adc79c181ee66fe60	A serious disorder with characteristic microvascular thrombosis involving the brain and other organs, @DISEASE$ (TTP) typically presents with thrombocytopenia, hemolysis with schistocytes on blood smears, and mental changes or @PHENOTYPICFEATURE$.	has_symptom
+b91eaf0fb15a323e903dbfb25160fd6619b0319e	jSLE showed significantly more clinical (including lymphadenopathy, fever, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, @DISEASE$, @PHENOTYPICFEATURE$, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	has_symptom
+99f098dbf2726978f86499af51a5fe19a8884f83	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent @DISEASE$, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+67d76ec5a8cd945f31b235bf3020856fcc7f8652	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic @DISEASE$, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+fd32de4ca5aac5a8234daa23fc9fb15665ac2fa1	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, @DISEASE$, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+9d5404782e5af759bff7f36129aaf8b2e50f6a73	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal @DISEASE$, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+8dad540fbca296cf64fc1743a4a47b6480c76e41	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, @DISEASE$, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+e9f857835c0c8fdfee0a159bcf6ba6a7e70cbdc3	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and @DISEASE$.	false
+78748bfc841aeefd3e9e2f05cc775a7f79c3c28c	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, @DISEASE$, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+631decf6baebccd4c5855e1465051c40e395170c	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, @DISEASE$, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+430242e2c6cb91ec36dd4f1cb776ba47d2c5da2a	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic @DISEASE$ changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain syndrome) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+4f485af63ce2bce3d981efa363efd7aae76b59dd	jSLE showed significantly more clinical (including lymphadenopathy, @PHENOTYPICFEATURE$, malar rash, mucosal ulcers, pericarditis, pleuritis, Raynaud's phenomenon, lupus nephritis, recurrent nephritis, histologic nephritis changes, thrombocytopenia, haemolytic anaemia, thrombotic thrombocytopenic purpura, seizures, lupus headache and organic brain @DISEASE$) and immunological (a-dsDNA and a-Sm antibodies, hypocomplementaemia) involvement than did aSLE, except for secondary Sj?gren's syndrome, a-Ro antibodies, fibromyalgia and osteoporosis.	false
+bd4f6e97795b70d9e820115e06b5bed7caaf838c	A patient with @DISEASE$ had a @PHENOTYPICFEATURE$ as the result of a contrast media injection given during computed tomographic examination.	has_symptom
+c733915e94f2577c621c989112fd5cfe0b51313c	To report a case of an infant with endstage @PHENOTYPICFEATURE$ caused by @DISEASE$.	has_symptom
+f8e573c96efc5fc230255f3c3da7d6dd00aa99a1	Two Arab siblings with nephrocalcinosis and @PHENOTYPICFEATURE$ secondary to @DISEASE$ are presented.	has_symptom
+c0eed04a92c23c932ffced6f2bd6e00fd82dfe4d	Plasma oxalate (POx) concentration is significantly elevated in @DISEASE$, severe @PHENOTYPICFEATURE$ or ethylene glycol poisoning.	has_symptom
+fd97fd4f328d6ee939d21c06632547041cf519b0	Transplantation (TX) has become an acceptable treatment for @PHENOTYPICFEATURE$ in @DISEASE$ (PH).	has_symptom
+92005c46cf324b791fb3e6b0bf8a869a9dd5aec4	@DISEASE$: a frequent cause of @PHENOTYPICFEATURE$ in Tunisian childhood.	has_symptom
+cc0fded9302fcbe2a128952f2b2fe7a3b8f2adcb	@DISEASE$: an important cause of @PHENOTYPICFEATURE$ in infancy.	has_symptom
+c6d90c9e3affbd0d0b77ec21089d60376953a738	Severe course of @DISEASE$ and @PHENOTYPICFEATURE$ after domino hepatic transplantation.	has_symptom
+a498811a259144c6ada458abd6deef54ee36dba5	Bony content of oxalate in patients with @DISEASE$ or oxalosis-unrelated @PHENOTYPICFEATURE$.	has_symptom
+6f556064ae8c5e550514d4b14e5fb83ef42ea552	@DISEASE$ is characterized by severe urolithiasis, nephrocalcinosis, and early @PHENOTYPICFEATURE$.	has_symptom
+a8edc904662651191c6fd28750d67a0367d9aa44	@DISEASE$ (PH) is an inherited disorder that causes calcium urolithiasis and @PHENOTYPICFEATURE$.	has_symptom
+a6142d3b3d98723a23ea4101a594c439f48cb410	A majority of patients with @DISEASE$ have self-reported daytime fatigue and/or @PHENOTYPICFEATURE$ after treatment.	has_symptom
+8a52146ba0c7b8fb5f69027ee9c46dbbd5327c22	The purpose of this study is to evaluate whether damage to the hypothalamus due to @DISEASE$ or consequent surgery may involve the sleep-wake regulatory system, resulting in @PHENOTYPICFEATURE$ and sleepiness.	has_symptom
+40a766237654cc2eba793d6ead338f4f843af930	We report a family with distal arthrogryposis and @PHENOTYPICFEATURE$ which demonstrates the clinical overlap between @DISEASE$ and Aase-Smith syndrome.	has_symptom
+e46f1dbbd99178ddab75f806765794d06e0c26e8	A family with distal arthrogryposis and @PHENOTYPICFEATURE$: possible overlap between @DISEASE$ and Aase-Smith syndrome.	has_symptom
+37db416e1b14d84d045e2f0156bee3604c42b319	The triad of a camptodactyly, club feet, and @PHENOTYPICFEATURE$, called the @DISEASE$, is a rare autosomal dominant trait with variable expressivity, known from only three previously described families.	has_symptom
+a52a03c44d5430c5dab97d0489292f3c916b8418	Camptodactyly, @PHENOTYPICFEATURE$, and club foot (the @DISEASE$).	has_symptom
+a21ea2699891c056e7453990de6156ef9c8cc462	Camptodactyly, cleft palate, and @PHENOTYPICFEATURE$ (the @DISEASE$).	false
+bf67944a390cdb9250ff6d0e9194cfd7e4be6a9e	Camptodactyly, @DISEASE$, and @PHENOTYPICFEATURE$ (the Gordon syndrome).	false
+e17379d8abb9b9bf3daccc011dca6e0d3f161b66	@DISEASE$ (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by @PHENOTYPICFEATURE$ and congenital contractures of the hands and feet.	has_symptom
+6c448f17344e40860c9a0d56b6c2a53bbac2e941	Gordon syndrome (GS), or @DISEASE$, is a rare, autosomal-dominant disorder characterized by @PHENOTYPICFEATURE$ and congenital contractures of the hands and feet.	has_symptom
+b5a653762c8220ee00a8c36d9307b8bf60e5d832	Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by @DISEASE$ and congenital @PHENOTYPICFEATURE$ and feet.	false
+46bf5d7f157df34e8b29963f8562a1a9b2ac2137	Gordon syndrome (GS), or @DISEASE$, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital @PHENOTYPICFEATURE$ and feet.	false
+53295803d1f7f2d05878ba5b416a256dbb3971a1	@DISEASE$ (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital @PHENOTYPICFEATURE$ and feet.	false
+5be864e5263dd0d7512b4f50b17c23733cd546ca	A second family is described in which camptodactyly, club foot, and @PHENOTYPICFEATURE$ (the @DISEASE$) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	has_symptom
+bbfa25475eb21faac7472a0446e8c157ab9acd18	A second family is described in which camptodactyly, @PHENOTYPICFEATURE$, and @DISEASE$ (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	false
+79525f905ff7d420b8f424701176fd49d81918ab	A second family is described in which camptodactyly, @PHENOTYPICFEATURE$, and cleft palate (the @DISEASE$) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	false
+a3654f7f2bb0013da7d341e8966f7527309e58cd	The @DISEASE$: autosomal dominant @PHENOTYPICFEATURE$, camptodactyly, and club feet.	has_symptom
+1b59f9437b7461b025ddc1c199f1588cf2a01494	Liebenberg synostosis syndrome, digitotalar dysmorphism, and the @DISEASE$ of autosomal dominant @PHENOTYPICFEATURE$, camptodactyly and club feet.	has_symptom
+af89847fbb349486586e5b24bc263059d5bfcb7c	The aim of this article is to publish a literature review and report on two new cases of @DISEASE$ (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, @PHENOTYPICFEATURE$, and talipes equinovarus.	has_symptom
+928871482b89a99e31b66bf57b1254e630ebee92	The aim of this article is to publish a literature review and report on two new cases of @DISEASE$ (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and @PHENOTYPICFEATURE$.	false
+c0409688171f19da32b49613fe9971ad51618b8b	The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1099f3e624c168dbde01843c5edd73e729d85b2c	For the 2 patients with intractable @PHENOTYPICFEATURE$ and pain accompanied by @DISEASE$ (B?rger's disease), we applied combined therapy with lumbar sympathetic block, continuous epidural block and prostaglandin E1 ointment.	has_symptom
+2e10972b89bb49d126af68162026205c9ccd89b1	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	has_symptom
+5f45467ca836f076c4cee8e40def71beb68a5d67	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+be069ce3c4e0514536c75a363188e97d06e94e1c	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+8e6f380f5e50fbf029f8efec04724db7b9878a25	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+c656cc92783eb7cc3eb3fd0742eca2b6bfc2bde0	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @DISEASE$, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+20a4a9e0989dfe7f26ebc4ad4ce46a506511d710	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or @DISEASE$.	false
+077dc59a05363ebe80d0229a621103e0e8bf7a68	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+f1f13a02e8719b19e4670fecdda73819ed2fba88	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+e58d52d264e9c076a5cf2329243fc9030473d10d	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, @DISEASE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+c76a529aae2e592f3e381a6f286dbac011977034	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+78aecaf325c72166e0435dc4ad9f779236bc647a	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or @DISEASE$.	false
+3d0782550aaaa9696a69b1470958550de805fe73	Frequent symptoms in this group include hyperlactacidaemia, severe hypotonia, cardiomyopathy, @PHENOTYPICFEATURE$ and malformations (congenital lactic acidaemias, fatty acid oxidation defects, peroxysomal disorders); (3) those which present evidence of liver dysfunction and hepatomegaly (glycogenesis, neoglucogenesis defects, @DISEASE$, fructosaemia, tyrosinaemia type I).	has_symptom
+ea8a8b60e7aa444059f87dcd622000fada75cc9a	We are reporting such a rarest form of @DISEASE$ presenting with progressively increasing cholestatic jaundice and @PHENOTYPICFEATURE$ at one month of age.	has_symptom
+5ceefdf34edb75c27997e5ac468078fe9470966f	@DISEASE$ in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, @PHENOTYPICFEATURE$, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation.	has_symptom
+b15884c7e69d9d707b022b609e0b8d63183814a1	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, @PHENOTYPICFEATURE$, hepatic @DISEASE$, ascites, and mental retardation.	false
+fd99006121642ced32ad9bfd8676f9c1d9b92a07	@DISEASE$ in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and @PHENOTYPICFEATURE$.	false
+c69a8d90362c81b59ff33492329ec88814c39d69	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, @DISEASE$, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, @PHENOTYPICFEATURE$, hepatic cirrhosis, ascites, and mental retardation.	false
+04227ad5ee44e0f334ee9a68a80412b941b02551	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, @DISEASE$, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and @PHENOTYPICFEATURE$.	false
+7f68a1812ab60c11ad30d21ad2a12855032d542c	@DISEASE$ in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, @PHENOTYPICFEATURE$, hepatic cirrhosis, ascites, and mental retardation.	false
+5680d482ca91dc942b5af27f915a008928f77243	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, @DISEASE$, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and @PHENOTYPICFEATURE$.	false
+23842d2a19a18cad96ac675adfaac233371cb14b	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, @DISEASE$ cirrhosis, ascites, and @PHENOTYPICFEATURE$.	false
+72d6e89552c1af3c0ed8f5d28fc6aaa81e5eeb61	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic @DISEASE$, ascites, and @PHENOTYPICFEATURE$.	false
+beb75cd1c61d7a9b1c79421c6a831e34ff75f60d	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, @DISEASE$, convulsions, lethargy, amino-aciduria, @PHENOTYPICFEATURE$, hepatic cirrhosis, ascites, and mental retardation.	false
+90fe6a8bf369155d26819539374eccc600772daa	Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, @PHENOTYPICFEATURE$, @DISEASE$ cirrhosis, ascites, and mental retardation.	false
+51ec9381969195011b783f5242131ac511b859c5	@DISEASE$ is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including short-limb dwarfism, a @PHENOTYPICFEATURE$, hypoplastic columella, and a round face.	has_symptom
+dcedf2aa9d7150aa9c7de5f55a6b0cc3bbd471c7	Peters plus syndrome is a multiple malformation syndrome characterized by a combination of @DISEASE$ of the eye and other extraocular defects, including @PHENOTYPICFEATURE$, a thin upper lip, hypoplastic columella, and a round face.	false
+d36e834d67a7fbd541f04e099070b2e91c542192	Peters plus syndrome is a multiple @DISEASE$ characterized by a combination of Peters anomaly of the eye and other extraocular defects, including @PHENOTYPICFEATURE$, a thin upper lip, hypoplastic columella, and a round face.	false
+011ea5fdc090289bdc20e77a50336764de81cbe2	Peters plus syndrome is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including @PHENOTYPICFEATURE$, a @DISEASE$, hypoplastic columella, and a round face.	false
+0bad9c182a5543a0b9618080c18c4c357774cf31	@DISEASE$ is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including @PHENOTYPICFEATURE$, a thin upper lip, hypoplastic columella, and a round face.	false
+b52954187b25cf76ee50d7d0bcbfa83d16687820	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	has_symptom
+1d52756255b0af5b11f4144767f69f99ece72d4f	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, @DISEASE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+b25c70bd6f63bf6d02a5671c4e1b04884b8813b3	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, @DISEASE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+3669b77102181282d25839be3d059acb7a2d42c6	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+bea7b44ac46ef98399bae02e424d9f26d6b01cf1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+76cf330647eb28707cd3e653733c6f30add381ec	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+72f8f2f32221571bb97f9a39f040e253dc4580a1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+e6a563afc14de4bd7e1f0adf0cb2b6fbfe2976ee	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+f3c69f2b0469ab5dc86f254aeb2c32091631536a	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, @DISEASE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+0145c3c198a35ead9c7890e21064cb91b2876566	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+93ad6dc7dedaf7132f3cbdc0cc963d9cad0737ff	A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, @PHENOTYPICFEATURE$, and pancytopenia), suggesting the diagnosis of @DISEASE$.	has_symptom
+cec92275a3691f2ea190a63c402e6a0417731269	The silvery-greyish hair associated with @PHENOTYPICFEATURE$, pancytopenia and hypertriglyceridaemia is the clue to early diagnosis of @DISEASE$ and important to prevent death before stem cell transplantation.	has_symptom
+6e00815dcda14c2467c643a9ac6aa304c0d7ee28	Our patients diagnosed with @DISEASE$-2 presented with @PHENOTYPICFEATURE$, hepatosplenomegaly, and deranged hematological and biochemical parameters.	has_symptom
+66dcf167478a277d2fffe4247fe3af73f02463d6	The symptom of severe hypoxia requiring mechanical ventilator, and bilateral @PHENOTYPICFEATURE$ on the chest film led to the clinical diagnosis of @DISEASE$.	has_symptom
+08c0868fa792018f7238082bc445c067e8e2466a	@PHENOTYPICFEATURE$ and gyral malformations are frequent manifestations of @DISEASE$.	has_symptom
+77921ee35246a58acd729ad945312061465fc18b	Two sisters died with @DISEASE$, @PHENOTYPICFEATURE$ and clubfoot.	has_symptom
+55f958cfcc2adba1b9041c0a06f46bb06a59edff	Two sisters died with @DISEASE$, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+c7d71ca2dd2cef776ee23f61627a4cda7a4b2e88	Two sisters died with non ketotic hyperglycinemia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f1c4b5fa7a040e544857b4f1afa70458a01e7702	We also report on additional findings not previously described in @DISEASE$, including bronchiectasis and @PHENOTYPICFEATURE$.	has_symptom
+c9dddbff8115d18460dad4bfc17fe6eb20d62f02	Causes for fetal hyperechogenic kidneys were infantile polycystic kidney disease (IPKD, 10 cases), adult polycystic kidney disease (APKD, 1 case), @PHENOTYPICFEATURE$ (@DISEASE$ case) after postmortem histological examination.	has_symptom
+b4461af8f7ae0f875525dbcd67471cd546f6daf7	Pituitary function studies were performed in a patient with mild Hunter's syndrome (@DISEASE$, MPS IIB) in order to exclude growth hormone deficiency as a possible contributing cause of his @PHENOTYPICFEATURE$.	has_symptom
+a89c6d4874320bedcebef600c39f8b8ee5434d34	The identification of rare inactivating STAT5B mutations in children, whose @PHENOTYPICFEATURE$ was associated with GH insensitivity (GHI) and @DISEASE$, confirmed the importance of STAT5b in regulating IGF-1 gene expression.	has_symptom
+f7c6ea393aac99d757b3864d084980fed14522af	@DISEASE$ is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, @PHENOTYPICFEATURE$, or seizures.	has_symptom
+2ffac8094d4179eca66d178f6fe5417ed3ff2e1b	@DISEASE$ is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or @PHENOTYPICFEATURE$.	false
+fca1a8336d54de2ef994cb1d56751df136b0501c	Tuberous sclerosis complex is a @DISEASE$ associated with high rates of mental retardation, @PHENOTYPICFEATURE$, cognitive impairment, behavioral problems, or seizures.	false
+8b0d7bedd3e142699a973f2fe5975ddce71507d4	Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, @PHENOTYPICFEATURE$, @DISEASE$, or seizures.	false
+2aed392b7b7d792cd6a172d216bc0534cdd017a3	@DISEASE$ is a multisystem disorder associated with high rates of @PHENOTYPICFEATURE$, autism, cognitive impairment, behavioral problems, or seizures.	false
+337303eb34eeb41992d3237612091919b4718146	@DISEASE$ is a multisystem disorder associated with high rates of mental retardation, autism, @PHENOTYPICFEATURE$, behavioral problems, or seizures.	false
+0bcb98c8d63417cdee4b9065d78c90f7f9c129e9	Tuberous sclerosis complex is a multisystem disorder associated with high rates of @PHENOTYPICFEATURE$, autism, cognitive impairment, @DISEASE$, or seizures.	false
+ac565757859eb226db13c2ca6fa6aa69ef6a187f	Tuberous sclerosis complex is a @DISEASE$ associated with high rates of @PHENOTYPICFEATURE$, autism, cognitive impairment, behavioral problems, or seizures.	false
+6504fe4423e85c119916d01c0c0cf25451b097d0	Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, @PHENOTYPICFEATURE$, cognitive impairment, @DISEASE$, or seizures.	false
+ba4b905957b7ba776da0e73e248d8561f4a872c9	Tuberous sclerosis complex is a @DISEASE$ associated with high rates of mental retardation, autism, @PHENOTYPICFEATURE$, behavioral problems, or seizures.	false
+cd32daec33365eb2535560f8643e04c1167e42b1	@DISEASE$ is a multisystem disorder associated with high rates of mental retardation, @PHENOTYPICFEATURE$, cognitive impairment, behavioral problems, or seizures.	false
+5d74b0cac94091c24483ea84817704050530a7a3	Tuberous sclerosis complex is a @DISEASE$ associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or @PHENOTYPICFEATURE$.	false
+b73fb69b4c592762926581442ea864033a920431	Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+9c6cfb5239423166dae79828c9e731cbf027a562	@PHENOTYPICFEATURE$ are common in children with @DISEASE$ (TSC) and can be challenging to manage at home.	has_symptom
+aa6c369ef264ab4bbdad1984d93422f1a4cb903d	The presence of a @DISEASE$ and @PHENOTYPICFEATURE$ were confirmed by surgical biopsy.	false
+e16c70c7794028db15bb96adc6ede3871edce596	@DISEASE$ (ADPKD) is characterized by bilateral renal cysts, kidney @PHENOTYPICFEATURE$, hypertension, and progressive loss of renal function.	has_symptom
+51d046fae8a896a67b8b9ade982873998bb80f57	Autosomal dominant polycystic kidney disease (@DISEASE$) is characterized by bilateral renal cysts, kidney @PHENOTYPICFEATURE$, hypertension, and progressive loss of renal function.	has_symptom
+8e44a433e51d73141f5a6b6417fe9d716d64f654	Autosomal dominant polycystic kidney disease (@DISEASE$) is characterized by bilateral @PHENOTYPICFEATURE$, kidney pain, hypertension, and progressive loss of renal function.	false
+ee69d2df634a95d61a313a635977cd928542130a	@DISEASE$ (ADPKD) is characterized by bilateral @PHENOTYPICFEATURE$, kidney pain, hypertension, and progressive loss of renal function.	false
+c8481ef4cd21a0ca83645a90622bf4f1bdd391b4	Autosomal dominant polycystic kidney disease (ADPKD) is characterized by bilateral @PHENOTYPICFEATURE$, kidney @DISEASE$, hypertension, and progressive loss of renal function.	false
+ce276cdce0c91bdc3828952a3aace88f00159d66	@DISEASE$ patients may present with intractable cyst @PHENOTYPICFEATURE$.	has_symptom
+ccb43700eb827e725cfed5ef77c590a82b9741df	A 51-year-old female patient with renal transplantation due to @DISEASE$ and diabetic nephropathy was admitted to our hospital with facial @PHENOTYPICFEATURE$ and minimal edema of the left half of her face on the 8th month of transplantation.	has_symptom
+45988f429ffdbc21eda951bf6124ca9d5dbbc391	A 51-year-old female patient with renal transplantation due to autosomal dominant, polycystic kidney disease and @DISEASE$ was admitted to our hospital with facial pain and minimal @PHENOTYPICFEATURE$ of the left half of her face on the 8th month of transplantation.	false
+a2204f5c9f18f4a7aa2ee79f5794079b9402a7e6	A 51-year-old female patient with renal transplantation due to autosomal dominant, polycystic kidney disease and diabetic nephropathy was admitted to our hospital with facial @DISEASE$ and minimal @PHENOTYPICFEATURE$ of the left half of her face on the 8th month of transplantation.	false
+9d0ec44d5f72ef75219804cbd1558a52acfff4cf	A 51-year-old female patient with renal transplantation due to @DISEASE$ and diabetic nephropathy was admitted to our hospital with facial pain and minimal @PHENOTYPICFEATURE$ of the left half of her face on the 8th month of transplantation.	false
+9b94bec4ad0197ba11f6defa806c31e2d4493e62	Acute causes of renal @PHENOTYPICFEATURE$ must first be ruled out due to the high incidence in @DISEASE$.	has_symptom
+966b6fc7db9e216d10a1711015a9861e44818acf	Absence of PAX6 gene mutations in @DISEASE$ (partial aniridia, cerebellar ataxia, and @PHENOTYPICFEATURE$).	has_symptom
+bd24ed857a0aad9c7aa5ad38dc6f30389a0eca13	Absence of PAX6 gene mutations in @DISEASE$ (partial aniridia, @PHENOTYPICFEATURE$, and mental retardation).	false
+6b01c60a0f585c3268b562f7cb7a01af10a1811d	Absence of PAX6 gene mutations in Gillespie syndrome (partial @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation).	false
+c2b0e038e9345baa65b2d2de24c82b1de7a50881	Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+5818e0d5599525b4af8147c49f345c9b3ade6bc6	@DISEASE$ is the phenotype partial aniridia, cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+697a9737c00d710db18ea57cbedcac8b9e2abd1d	@DISEASE$ is the phenotype partial aniridia, @PHENOTYPICFEATURE$ and mental retardation.	false
+d583620e668525501f227a670e02769fe3f5566b	Gillespie syndrome is the phenotype partial @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+7ba79ab9d9bcf1a99914ad2d31db8d94614ca9b5	Gillespie syndrome is the phenotype partial aniridia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1e80445356ab2fe17b5afe90b329e92b32cdd0e8	Cerebellar cognitive affective syndrome without global @PHENOTYPICFEATURE$ in two relatives with @DISEASE$.	has_symptom
+7ae7fc1db63f612dafdefa4b7ebe255a284b86d7	Syndrome of partial aniridia, cerebellar ataxia, and @PHENOTYPICFEATURE$--@DISEASE$.	has_symptom
+8284cd8b1cd672118816002afe4719c7619e2421	Syndrome of partial aniridia, @PHENOTYPICFEATURE$, and mental retardation--@DISEASE$.	false
+7306193a76c81b744f50cba84a9ce6444bcc2548	Syndrome of partial aniridia, @PHENOTYPICFEATURE$, and @DISEASE$--Gillespie syndrome.	false
+c67a229922b6fea2553cf01150be16183e7b1c01	Syndrome of partial @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation--Gillespie syndrome.	false
+391ccae362cb664c1be94e27a3fd85ec8895ccc1	@DISEASE$ (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+c8151024168cbddc4f3376dce2dc2d3ba26dd677	@DISEASE$ (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, @PHENOTYPICFEATURE$ and intellectual disability.	false
+e09ba1e8362f7adadf4a9e6d863f5635df3dbfd5	Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+88112a8f126198d7f2378871c920a92a1cf4f8a5	Here we describe a 5-year-old girl with @DISEASE$ of cerebellar ataxia, partial aniridia, and @PHENOTYPICFEATURE$.	has_symptom
+93cd88b00e8fbdcedb0a74345b57799d576c7284	Here we describe a 5-year-old girl with Gillespie syndrome of @PHENOTYPICFEATURE$, partial aniridia, and @DISEASE$.	false
+daddea7cf3cacdc9f93363378849693cab09ffcb	Here we describe a 5-year-old girl with @DISEASE$ of @PHENOTYPICFEATURE$, partial aniridia, and mental retardation.	false
+24d29acde679c54fa913bea62ef0c8f62ada8d09	Here we describe a 5-year-old girl with @DISEASE$ of cerebellar ataxia, partial @PHENOTYPICFEATURE$, and mental retardation.	false
+e2f548b66f8861f7cb68c7123e1e5df3012b44f1	Here we describe a 5-year-old girl with Gillespie syndrome of cerebellar ataxia, partial @PHENOTYPICFEATURE$, and @DISEASE$.	false
+63b6174038086109690994414c9b7756ad465592	Partial aniridia, cerebellar ataxia, and @PHENOTYPICFEATURE$ (@DISEASE$) in two brothers.	has_symptom
+d8ac1dfa76a36977e9ae6d7e83feaf88cae83f3a	Partial aniridia, @PHENOTYPICFEATURE$, and @DISEASE$ (Gillespie syndrome) in two brothers.	false
+6e840cdd43fd78cb6321f61b886df350aa4238e3	Partial aniridia, @PHENOTYPICFEATURE$, and mental deficiency (@DISEASE$) in two brothers.	false
+f2a39b8481dabfc4dc59b5ad82a21fce6c8389b4	Partial @DISEASE$, @PHENOTYPICFEATURE$, and mental deficiency (Gillespie syndrome) in two brothers.	false
+edf20a9ab3447c2e588964e02e6d7e4457ba2c66	@DISEASE$ is a rare variant form of aniridia, characterized by @PHENOTYPICFEATURE$, nonprogressive cerebellar ataxia, and iris hypoplasia.	has_symptom
+f1eb59eddcdb811a4ec550ec0ec71dbf10942b72	@DISEASE$, partial aniridia, cerebellar ataxia and @PHENOTYPICFEATURE$ in mother and daughter.	has_symptom
+342c4c5fdac81a0528fe3eca85365ac3d8573abe	Gillespie syndrome, partial aniridia, @PHENOTYPICFEATURE$ and @DISEASE$ in mother and daughter.	false
+af265f107873c0528f28d4d4a516aae603380c82	@DISEASE$, partial aniridia, @PHENOTYPICFEATURE$ and mental retardation in mother and daughter.	false
+29ecd2a110df840fdb05a94dc03f036be965026a	Gillespie syndrome, partial @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation in mother and daughter.	false
+c35dc00eae32c324bf9609bace470a6be84e9b90	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and @PHENOTYPICFEATURE$.	has_symptom
+593099dc0364ddb5839aa1a7819e7f20ed897015	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and intellectual disability.	false
+0b10244500f86e849f628eb320b49fd0313b5b1a	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and @DISEASE$.	false
+bff3c2d41ba2a0ee8d98900ccfda738585dc62dd	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive cerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$, and intellectual disability.	false
+c65873a066a08138f532d68b8fce6d0b240c4765	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2ae976aeae528cf79d9fc6d79017d16c2e2cefae	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$, and intellectual disability.	false
+97dcfe186fe6ac4a375948bae731b8a47676be65	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and intellectual disability.	false
+cbf3e7514830e33688f6dba1f849a32b51b0adef	Spinocerebellar ataxia type 17 repeat in patients with @DISEASE$-like and @PHENOTYPICFEATURE$.	has_symptom
+0102748bdb138217607c7ebc21784d311252c390	Mitochondrial involvement in Parkinson's disease, @DISEASE$, hereditary spastic paraplegia and Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+3f93c7623648203392e7d3064beec63adbce550e	Neurodegenerative movement disorders mainly include Parkinson's disease, atypical parkinsonisms, @DISEASE$, and hereditary @PHENOTYPICFEATURE$.	has_symptom
+a1f6253c914f5ff52bb1e409a7e01ed08fcff79e	Neurodegenerative @PHENOTYPICFEATURE$ mainly include Parkinson's disease, atypical parkinsonisms, Huntington disease, and hereditary @DISEASE$.	false
+11e802d4690a12adf9e932e0abbae407dcb3a3c3	Neurodegenerative @PHENOTYPICFEATURE$ mainly include @DISEASE$, atypical parkinsonisms, Huntington disease, and hereditary ataxia.	false
+000266294393ec3826576a22f0c30d55504a3e1d	Neurodegenerative @PHENOTYPICFEATURE$ mainly include Parkinson's disease, atypical parkinsonisms, @DISEASE$, and hereditary ataxia.	false
+77070091c7973c8b1b2c57f4c2b476a5d60ae78d	Purkinje cell damage manifests as motor incoordination and ataxia - a prominent feature of many human disorders including spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+047271e77c9323a53c8d386b34d70e670f49ba42	Purkinje cell damage manifests as motor incoordination and @PHENOTYPICFEATURE$ - a prominent feature of many human disorders including spinocerebellar ataxia and @DISEASE$.	has_symptom
+ded38f3151b9d5525afcc3013d45265baa536933	Recent studies have described @DISEASE$ (HD) patients with atypical onset of @PHENOTYPICFEATURE$.	has_symptom
+45ec9871d19c8e4dcac900b11a4743117dc55ff7	Assessment of in vitro and in vivo mitochondrial function in Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+b788abaa2fe0c7d353b328159ef293bdac69fbff	From mild @PHENOTYPICFEATURE$ to @DISEASE$ phenocopy: the multiple faces of spinocerebellar ataxia 17.	has_symptom
+e85d59f5ec47911d69b18b0467101f1778b1f314	From mild ataxia to @DISEASE$ phenocopy: the multiple faces of spinocerebellar @PHENOTYPICFEATURE$ 17.	has_symptom
+173d628ce1c0bd876376a32d205ef1b8d52e4e17	Cerebrospinal fluid GABA and homocarnosine concentrations in patients with Friedreich's @PHENOTYPICFEATURE$, Parkinson's disease, and @DISEASE$.	has_symptom
+c61aee2fca9e821e8d0a75ad968abefe0e581cc3	Patient characteristics, @PHENOTYPICFEATURE$ rating scales, the Unified @DISEASE$ Rating Scale functional examination, and clinical staging were used.	has_symptom
+7c1dc33f301a8191fc2401ebdd61f1ffae0d5b8b	Spinocerebellar @PHENOTYPICFEATURE$ 17 (SCA17) and @DISEASE$-like 4 (HDL4).	has_symptom
+44f92a67a6f263522759a5a21170455d65ec305d	@PHENOTYPICFEATURE$ in juvenile @DISEASE$: frequency and characterization in a multicenter cohort.	has_symptom
+e55b394bdf8b40854c02fb260c51347bd91d56f4	Juvenile @DISEASE$ presenting as difficult-to-treat @PHENOTYPICFEATURE$ and the first episode of psychosis.	has_symptom
+a0b8ec825574c210b41cb80c120168dd37f87e51	It is characterized by @DISEASE$-like involuntary movements, cognitive decline, behavioral changes, @PHENOTYPICFEATURE$ and polyneuropathy.	has_symptom
+eecd58219996ee99bbcafb3c5ad42d4732dcd275	It is characterized by Huntington disease-like involuntary movements, cognitive decline, @PHENOTYPICFEATURE$, @DISEASE$ and polyneuropathy.	false
+2d30c99bee743cefe73042261475a7a2b847e311	It is characterized by Huntington disease-like involuntary movements, cognitive decline, @PHENOTYPICFEATURE$, seizures and @DISEASE$.	false
+a7b9dfb8940077c88c668a5092165e891411bec2	It is characterized by @DISEASE$-like involuntary movements, cognitive decline, @PHENOTYPICFEATURE$, seizures and polyneuropathy.	false
+0e2104bd5868aba7d7055559f0bdbf6a6c06451d	The objective was to describe a case of juvenile @DISEASE$ that first presented with @PHENOTYPICFEATURE$ and psychosis.	has_symptom
+90285d5a8969f17a25330b1ea5f84abc42a9ec74	@DISEASE$ should be considered in the differential diagnosis of young children who present with @PHENOTYPICFEATURE$ and developmental regression.	has_symptom
+54ae140e35a2481d3114cb728e6a5657c0525b0d	R6/2 @DISEASE$ mice develop early and progressive abnormal brain metabolism and @PHENOTYPICFEATURE$.	has_symptom
+091e2e55f4291597d9d4a2962038644c13b85407	Juvenile @DISEASE$ (JHD) is mostly characterized by rigidity, myoclonus, bradykinesia, dystonia and @PHENOTYPICFEATURE$.	has_symptom
+da7c1ed744879fe569906b8f07234891a3e400a1	Patients with difficult-to-treat @PHENOTYPICFEATURE$ and the first episode of psychosis should be considered for the diagnosis of juvenile @DISEASE$.	has_symptom
+b81bcc3e49a20cb55c90de8fdd87f11b48a079c0	@PHENOTYPICFEATURE$ are common in juvenile @DISEASE$ (HD), but considered to be rare in adult-onset HD.	has_symptom
+1322d25b0e311aee7c050db1c8a06b2dd61eb900	We describe the electroencephalographic findings observed in a young child with @DISEASE$ who presented with motor regression and @PHENOTYPICFEATURE$.	has_symptom
+a21ea2699891c056e7453990de6156ef9c8cc462	Camptodactyly, cleft palate, and @PHENOTYPICFEATURE$ (the @DISEASE$).	has_symptom
+a52a03c44d5430c5dab97d0489292f3c916b8418	Camptodactyly, @PHENOTYPICFEATURE$, and club foot (the @DISEASE$).	false
+597a93c0730adbef4841dd8f0cbd9acb1ffe04c8	Camptodactyly, @PHENOTYPICFEATURE$, and @DISEASE$ (the Gordon syndrome).	false
+79525f905ff7d420b8f424701176fd49d81918ab	A second family is described in which camptodactyly, @PHENOTYPICFEATURE$, and cleft palate (the @DISEASE$) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	has_symptom
+d0fdb6e0b1abb6977167d0eb5e3c403ef9fceb57	A second family is described in which camptodactyly, @DISEASE$, and @PHENOTYPICFEATURE$ (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	false
+5be864e5263dd0d7512b4f50b17c23733cd546ca	A second family is described in which camptodactyly, club foot, and @PHENOTYPICFEATURE$ (the @DISEASE$) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	false
+928871482b89a99e31b66bf57b1254e630ebee92	The aim of this article is to publish a literature review and report on two new cases of @DISEASE$ (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and @PHENOTYPICFEATURE$.	has_symptom
+af89847fbb349486586e5b24bc263059d5bfcb7c	The aim of this article is to publish a literature review and report on two new cases of @DISEASE$ (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, @PHENOTYPICFEATURE$, and talipes equinovarus.	false
+4cff8ae478715622faf704d13131f2f89381896d	The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7f02849a75377f5f303e6770244631aba96b67ba	The @DISEASE$ is a genomic disorder characterized by mental retardation, developmental delay, @PHENOTYPICFEATURE$, and slight facial dysmorphism.	has_symptom
+aaeb50e7074a0e227d345eca37707b28622d657e	The @DISEASE$ is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight @PHENOTYPICFEATURE$.	false
+edce56c50811052653e9b074a719b5bb3e7a0e76	The @DISEASE$ is a genomic disorder characterized by @PHENOTYPICFEATURE$, developmental delay, microcephaly, and slight facial dysmorphism.	false
+ac4b05d22cde58a452c5fd5589ee624a7af0e7c5	The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, @DISEASE$, and slight @PHENOTYPICFEATURE$.	false
+58888e7094937593605e631ba8e2fb455d26e2b7	The 3q29 microdeletion syndrome is a genomic disorder characterized by @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, and slight facial dysmorphism.	false
+5c04fc3dac1f79b1b7dad91949ca62875fcd1352	Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), arthralgias or @PHENOTYPICFEATURE$, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with @DISEASE$.	has_symptom
+2a0c87e8e0ab4b13cffd60475e9b5d1e4f88d004	Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), @PHENOTYPICFEATURE$ or @DISEASE$, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with dermatomyositis.	false
+ae21d6bb3c9b46077d39323c63413be9da12bc8c	Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), @PHENOTYPICFEATURE$ or arthritis, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with @DISEASE$.	false
+3f466343783f5058444f621b417442d8a3f37598	In addition a bilateral disc-like @PHENOTYPICFEATURE$ was present which was classified as central cloudy corneal dystrophy of Fran?@DISEASE$.	has_symptom
+c0ad38bb1383d4741f170ff930ce7deea044d351	We have investigated a South African family of Indian stock in which 4 brothers and 2 cousins had a severe form of @DISEASE$ (OI) together with blindness due to hyperplasia of the vitreous, @PHENOTYPICFEATURE$ and secondary glaucoma.	has_symptom
+b67f63b94d682523988bc24464e521bbb44c6525	The probands all exhibited @PHENOTYPICFEATURE$, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with @DISEASE$.	has_symptom
+a432f4788063b111116ada94b0911fd4b777f045	SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.	has_symptom
+f74e327277adb37aa41be61f4b7d0416d8e6f54f	SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, @DISEASE$ and @PHENOTYPICFEATURE$, which is caused by biallelic mutations in the POC1A gene.	false
+7a62c506fb259bc5f5479b73be31bcc0bc09fc0d	SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by @DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$, which is caused by biallelic mutations in the POC1A gene.	false
+49aed461d5a446674b036242a1077a50ac9a627b	@DISEASE$ (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and @PHENOTYPICFEATURE$, which is caused by biallelic mutations in the POC1A gene.	false
+18448dcda15702d0728578b7f38152b95edd1cf1	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (@DISEASE$, @PHENOTYPICFEATURE$, and hypoTrichosis).	has_symptom
+f9359c4a6a27f68ad1c1abc4a448ec3f25393af2	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+0cfe663032599dd9d9d4d13eac8b44048b404e2e	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (@DISEASE$, Facial dysmorphism, and @PHENOTYPICFEATURE$).	false
+4ac47a6c0a8898265e0abc39939b21a3f45fea9c	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, @DISEASE$ (Short stature, Onychodysplasia, Facial dysmorphism, and @PHENOTYPICFEATURE$).	false
+68e7f7fbf22f4e1f0985771e696b53dbeb896000	SOFT syndrome with characteristics of @DISEASE$, @PHENOTYPICFEATURE$, and hypotrichosis has been presented as a subtype of PD.	has_symptom
+a2088fa782b5a198b5c7ad1c9bb1372594089a1a	They have been reported in 13 families as causing either @DISEASE$, @PHENOTYPICFEATURE$, and hypoTrichosis (SOFT) syndrome, or a milder partially overlapping phenotype, variant POC1A-related syndrome.	has_symptom
+12a259796d2e575ccc45b7466050cc77aad042ab	POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with @DISEASE$, @PHENOTYPICFEATURE$ and hypotrichosis (SOFT) syndrome.	has_symptom
+2d0d23af2f8d9c125b3ea46471f81690a506e3a6	POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with @DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$ (SOFT) syndrome.	false
+dfb53d934fc45a47fe9ef2b79909adb47e7df905	POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, @DISEASE$ and @PHENOTYPICFEATURE$ (SOFT) syndrome.	false
+c23aff504e4a2c6e40f02f11095094de1570f359	POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and @PHENOTYPICFEATURE$ (SOFT) @DISEASE$.	false
+dd64025be1adfdcc4ec8dd6d64b3148080553a53	In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (@DISEASE$, @PHENOTYPICFEATURE$, and hypotrichosis) syndrome.	has_symptom
+c5b3648359fff799362e706dc3f67b9acb4c4a3d	In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (@DISEASE$, facial dysmorphism, and @PHENOTYPICFEATURE$) syndrome.	false
+71e96735075d849b008e69b852b9ab03387c3c6f	In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, @DISEASE$, and @PHENOTYPICFEATURE$) syndrome.	false
+01b0b4e2eaf09f87701bb30d353ad8789e524f0c	In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and @PHENOTYPICFEATURE$) @DISEASE$.	false
+ef57203d344c1242b2528a3a1e62717c2f15e506	It is characterized by prenatal @DISEASE$, @PHENOTYPICFEATURE$, hypotrichosis, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	has_symptom
+2247df7e75d34abd2050ca84cfa8e31208e9dd2b	It is characterized by prenatal @DISEASE$, facial dysmorphism, hypotrichosis, and variable @PHENOTYPICFEATURE$ including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+09413418de802ab3a2fe22dc7e80bd619a361eb9	It is characterized by prenatal @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+53ca5185178ece185727ddf84c5de77d79018d39	It is characterized by prenatal short stature, onychodysplasia, @DISEASE$, hypotrichosis, and variable @PHENOTYPICFEATURE$ including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+aa357604530b6206dc4bc1da6ea30ea9f262e735	It is characterized by prenatal short stature, onychodysplasia, @DISEASE$, @PHENOTYPICFEATURE$, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+a6094a0794543a3e1960118c272a6ade53ca2981	@DISEASE$ syndrome (MC) is a systemic @PHENOTYPICFEATURE$ involving kidneys, joints, skin, and peripheral nerves.	has_symptom
+0a69ff53fe8e6f18d745beaea0b44b2a5062c8c3	Hepatitis C virus (HCV) infection is associated with @DISEASE$, which can cause a @PHENOTYPICFEATURE$ affecting various organs.	has_symptom
+9a9b19f37d6c9815a71112f665d34d73fbefe75c	Cutaneous necrotising @PHENOTYPICFEATURE$, @DISEASE$, porphyria cutanea tarda and lichen planus are the major skin diseases frequently associated with HCV infection, but other skin disorders, such as Adamantiadis-Beh?et syndrome, erythema multiforme and nodosum, malacoplakia, urticaria and pruritus, may also be linked to hepatitis C. Further studies are necessary to establish or refute an aetiopathogenetic role of HCV in these conditions.	has_symptom
+0da5a85450f5ad493da26a07b3071c9302c4564a	To examine the expression profiles of a large number of genes within typical @PHENOTYPICFEATURE$ nerve lesions in patients with @DISEASE$ (MC) vasculitis in order to better characterize the molecules involved in cellular tissue activation and trafficking.	has_symptom
+8bf22a7a9d491982a87c514bde88ac87f8bddb02	The second group includes disorders of primarily immunocomplex genesis (vasculitis): skin @PHENOTYPICFEATURE$, Raynaud's syndrome, nodular periiarteritis, @DISEASE$, etc.).	has_symptom
+4d95a710ba87780450e4fe0a43d2b14d71a01fce	During the studied period there were 19 patients with a diagnosis of Wegener's granulomatosis (WG), 70 patients with microscopic polyangiitis (MPA), 36 patients with renal limited @PHENOTYPICFEATURE$ (RLV), two with Churge-Strauss vasculitis (C-S), seven with Henoch-Sch?nleins purpura (HSP) and four with essential @DISEASE$ (ECV).	has_symptom
+2ab3f7ac809a9b577baf73e0d61d958f056cb2e0	Birmingham @PHENOTYPICFEATURE$ activity score, disease extent index and complement factor C3c reflect disease activity best in hepatitis C virus-associated @DISEASE$.	has_symptom
+aa74160522b9ebcdaa6e2525d34243d293964b40	Considering big pathogenetic potentials of hepatitis C virus with possible skin involvement, and proved association between cutaneous necrotising @PHENOTYPICFEATURE$ with mixed @DISEASE$, porphyria cutanea tarda, lichen planus and chronic hepatitis C infection, all patients with these disorders should be tested for hepatitis C and all cases of hepatitis C should be searched for signs and symptoms of these skin diseases.	has_symptom
+689864730c9f97772a69c83dd26669320e591b7e	@DISEASE$ is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and @PHENOTYPICFEATURE$.	has_symptom
+7d8c717d7aeca6b7ee99f656cda358257e6fc29a	Floating-Harbor syndrome is a rare disorder which is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, delayed bone ages, triangular face, bulbous nose and @DISEASE$.	false
+b7fd543870c44b726bbfdcbaa20ee585707db1c0	Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, @PHENOTYPICFEATURE$, triangular face, bulbous nose and @DISEASE$.	false
+b089ba379bb7275db03b08f2235d70dc85c81e8b	@DISEASE$ is a rare disorder which is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips.	false
+c3f8b60384aaf031f56ef841c64fc3c035d0a24d	@DISEASE$ is a rare disorder which is clinically characterized by short stature, retarded speech development, @PHENOTYPICFEATURE$, triangular face, bulbous nose and thin lips.	false
+9a1cf0fa9e933a160f37cf0c3cb1959771487cbf	The established facts to date relating to @DISEASE$ (FHS) are its characteristic typical triangular facies with bulbous nose and @PHENOTYPICFEATURE$, short stature, delayed bone age, and mild mental retardation with delay in expressive speech; its sporadic occurrence without Mendelian inheritance; and its unknown cause.	has_symptom
+6ae1647eb13ddea8c9aa4b9133e76aa153298ff1	The established facts to date relating to @DISEASE$ (FHS) are its characteristic typical triangular facies with bulbous nose and thin lips, short stature, @PHENOTYPICFEATURE$, and mild mental retardation with delay in expressive speech; its sporadic occurrence without Mendelian inheritance; and its unknown cause.	false
+0f1e7ed940530a8e03e054323198c1238ae770e4	The established facts to date relating to @DISEASE$ (FHS) are its characteristic typical triangular facies with bulbous nose and thin lips, @PHENOTYPICFEATURE$, delayed bone age, and mild mental retardation with delay in expressive speech; its sporadic occurrence without Mendelian inheritance; and its unknown cause.	false
+0b21ddae542b245bd4c4d88b22a6fb5607ab7d66	The established facts to date relating to Floating-Harbor syndrome (FHS) are its characteristic typical triangular facies with bulbous nose and @DISEASE$, short stature, @PHENOTYPICFEATURE$, and mild mental retardation with delay in expressive speech; its sporadic occurrence without Mendelian inheritance; and its unknown cause.	false
+8e8fce24e23f60e39f82dfdb49886cacc9d9c565	The established facts to date relating to Floating-Harbor syndrome (FHS) are its characteristic typical triangular facies with bulbous nose and @DISEASE$, @PHENOTYPICFEATURE$, delayed bone age, and mild mental retardation with delay in expressive speech; its sporadic occurrence without Mendelian inheritance; and its unknown cause.	false
+ebdc215f2a338445e72b0b69e6d4f9437cb3e417	The @DISEASE$ (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, @PHENOTYPICFEATURE$.	has_symptom
+068315ea2687060e88b3fea543dd56f9ef28a22c	The @DISEASE$ (FHS) is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips.	false
+e36ac399c5f666a88b28b7170a15a178d96fa8b8	The @DISEASE$ (FHS) is clinically characterized by short stature, retarded speech development, @PHENOTYPICFEATURE$, typical facies, bulbous nose, wide columella, thin lips.	false
+bba522337592f82febe793950f1a5f0128ca3f62	The Floating-Harbor syndrome (FHS) is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, @DISEASE$.	false
+0e40114e568def84548d389fde685547e1404096	The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, @PHENOTYPICFEATURE$, typical facies, bulbous nose, wide columella, @DISEASE$.	false
+b35aedce27e4aa7ce6d7662a4d3a0655ab91836b	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with @DISEASE$/@PHENOTYPICFEATURE$/multiple contractures spectrum Previously, radiographs only have assessed the skull base pathology in patients with dysosteosclerosis, here we further characterize the pathology via 3DCT scan.	has_symptom
+0a32043b4f4ea740637656dfa263634c9bad3361	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with dysosteosclerosis/@PHENOTYPICFEATURE$/multiple contractures spectrum Previously, radiographs only have assessed the skull base pathology in patients with @DISEASE$, here we further characterize the pathology via 3DCT scan.	has_symptom
+172a645b97735b2eb16aee4033234d7b9f3977de	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with @DISEASE$/osteosclerosis/multiple @PHENOTYPICFEATURE$ spectrum Previously, radiographs only have assessed the skull base pathology in patients with dysosteosclerosis, here we further characterize the pathology via 3DCT scan.	false
+8d1a41026133979b23e4471ded27ef3049263b2a	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with dysosteosclerosis/osteosclerosis/multiple @PHENOTYPICFEATURE$ spectrum Previously, radiographs only have assessed the skull base pathology in patients with @DISEASE$, here we further characterize the pathology via 3DCT scan.	false
+3d1de92c771361002cc87a80f3d41008ec74a0ba	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with dysosteosclerosis/@DISEASE$/multiple @PHENOTYPICFEATURE$ spectrum Previously, radiographs only have assessed the skull base pathology in patients with dysosteosclerosis, here we further characterize the pathology via 3DCT scan.	false
+c181c86decb76ba961904db681af4f3bce9874da	The Autism Diagnostic Observation Schedule (@DISEASE$) and the Diagnostic Interview Schedule for Children were administered in childhood (ages 6-12) and in adolescence (ages 12-20) to 72 individuals with a @PHENOTYPICFEATURE$-not otherwise specified (PDD-NOS).	has_symptom
+93d7db737421c59ae7ea8b6bd9f601e8d422c30f	The pattern is traditionally linked to Lennox-Gastaut (@DISEASE$) or late LGS (LLGS) syndrome and associated with tonic-axial seizures, pharmaco-resistency and poor prognosis including @PHENOTYPICFEATURE$.	has_symptom
+7b8e0feab04638268b630b617e130763bf5a6f8a	The pattern is traditionally linked to Lennox-Gastaut (LGS) or late @DISEASE$ (LLGS) syndrome and associated with tonic-axial seizures, pharmaco-resistency and poor prognosis including @PHENOTYPICFEATURE$.	has_symptom
+cb6da0f5935903ac1e80f0af20feacc51bd00b67	The pattern is traditionally linked to Lennox-Gastaut (LGS) or late @DISEASE$ (LLGS) syndrome and associated with tonic-axial @PHENOTYPICFEATURE$, pharmaco-resistency and poor prognosis including mental deterioration.	false
+39cf8bb080f26419d170d02429cbdf13f27a9c8a	The pattern is traditionally linked to Lennox-Gastaut (LGS) or late LGS (LLGS) @DISEASE$ and associated with tonic-axial @PHENOTYPICFEATURE$, pharmaco-resistency and poor prognosis including mental deterioration.	false
+855a131e373d580316e01036dc85c1cd4b1d8b2f	The pattern is traditionally linked to Lennox-Gastaut (LGS) or late LGS (LLGS) syndrome and associated with tonic-axial @PHENOTYPICFEATURE$, pharmaco-resistency and poor prognosis including @DISEASE$.	false
+27528d732426939d2056fa597d81e3edd0ba7038	The pattern is traditionally linked to Lennox-Gastaut (@DISEASE$) or late LGS (LLGS) syndrome and associated with tonic-axial @PHENOTYPICFEATURE$, pharmaco-resistency and poor prognosis including mental deterioration.	false
+1062c627c8ae762f37ce94ffdb9da32fcc60d17f	Ninety-three girls with cleft palate (53 submucous @PHENOTYPICFEATURE$ (SMCP) and 40 @DISEASE$ (ICP)), mean age 6.2 years (range 5.5-7.5),	has_symptom
+5d80e67d555b94a1e9ebb5c6ac526cf2f0f245d4	Ninety-three girls with @PHENOTYPICFEATURE$ (53 submucous cleft palate (SMCP) and 40 @DISEASE$ (ICP)), mean age 6.2 years (range 5.5-7.5),	has_symptom
+b3d7c62662119de1994f4c0bf7f96ef49ebc35a5	Assessment of differentially expressed plasma microRNAs in @DISEASE$ and nonsyndromic cleft lip with @PHENOTYPICFEATURE$.	has_symptom
+2f7733d950ca8567edd82787f06210e97043ebf7	Craniofacial cephalometric morphology in six-year-old girls with submucous @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+418e13f19a6a72b6e5b1b062be96a1f2c05bae96	The material included 61 children with submucous @PHENOTYPICFEATURE$ (SMCP) and 68 children with @DISEASE$ (ICP).	has_symptom
+645bc4fdd8e91ae65474876f6aa681ddb53f74d4	Dental arches in six-year-old children with operated and unoperated submucous @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+859bee86de48c662e05e478a36602996a1efa1b0	A total of 176 patients (81 @DISEASE$, ICP; 74 unilateral completely @PHENOTYPICFEATURE$, UCCP; 21 bilateral completely cleft palate, BCCP) underwent Sommerlad palatoplasty.	has_symptom
+b19754d919174381cb3b3529860ab13a71d1859b	A total of 176 patients (81 @DISEASE$, ICP; 74 unilateral completely cleft palate, UCCP; 21 bilateral completely @PHENOTYPICFEATURE$, BCCP) underwent Sommerlad palatoplasty.	has_symptom
+724dc26607bbce3624c89c0a06f1f9a83cfa47a1	@DISEASE$ (CP) and cleft lip with @PHENOTYPICFEATURE$ (CLP) were found in A/J mothers.	has_symptom
+8901eebfc7e77cc1255a44fffc52da5bbfb27133	Dominant @DISEASE$ has rarely been reported, and there are no previous reports of dominant @PHENOTYPICFEATURE$ with these associated features.	has_symptom
+84e269636c04ee4b3700395d04022bcf94d54f88	This observation suggests that the induced @PHENOTYPICFEATURE$ frequency reflects the spontaneous occurrence of @DISEASE$ in these strains.	has_symptom
+3a536bcb3ca8db9afa8be90522521386c183d79a	Prevalence of @DISEASE$ was steady over time, while @PHENOTYPICFEATURE$ with other defects increased substantially.	has_symptom
+fbf89875107704d9226e6ef97c5f11f7f30bec30	Besides the usual triad, other manifestations of @DISEASE$ include hypoplasia of distal phalanges, brachytelencepahly, gastrointestinal malformations and constipation, @PHENOTYPICFEATURE$, short nose with a broad nasal bridge and dip, and thin upper lip with down turned corners of the mouth.	has_symptom
+9dd9f50e1f86197960b92b3fe7ff22c915ab69e4	Reassuringly, adults with @DISEASE$ are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, @PHENOTYPICFEATURE$ and tremor have developed in a small number of individuals.	has_symptom
+68711282eeb3ca00860326176f4d261de7bc02d5	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, @PHENOTYPICFEATURE$ and facial features reminiscent of Amish microcephaly and @DISEASE$.	has_symptom
+8696fe325400fef968bfc381c1491fb1f956eaeb	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, seizures and facial features reminiscent of Amish @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1eb923c5edd054c8c4b23e26cbb98ac90d4e407e	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, @DISEASE$ and facial features reminiscent of Amish @PHENOTYPICFEATURE$ and Bowen-Conradi syndrome.	false
+d249419e292559d7375f2545c508240dc2b4e4d3	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, seizures and facial features reminiscent of @DISEASE$ @PHENOTYPICFEATURE$ and Bowen-Conradi syndrome.	false
+6cff69183450f5a44fcdc423eac588485ab611f8	@DISEASE$ is the most severe form of mucopolysaccharidosis (MPS) Type 1. Progressive neurocognitive decline in this condition can be accompanied by @PHENOTYPICFEATURE$, ventriculomegaly, and/or periventricular signal changes on MRI, which often leads to a neurosurgical referral.	has_symptom
+db661698580f98f8e5ad123efb28c25ea350e581	When pregnant patients exhibit fever, neutrophilia, @PHENOTYPICFEATURE$ or myalgia, and tender erythematous plaques or nodules, @DISEASE$ should be considered.	has_symptom
+85e83f0cb0212114b71787bcb78991c34ac0c36a	When caring for patients with @DISEASE$, dermatologists should be aware of the potential association of leukopenia, anemia, thrombocytopenia, absence of @PHENOTYPICFEATURE$, and histiocytoid or subcutaneous histopathology with malignancy.	has_symptom
+a11a07b1a5aab9f54bafff0e36549b6d7d9dcd92	SS may exist as a primary condition or in association with other systemic autoimmune disorders (termed secondary SS) such as rheumatoid arthritis, systemic lupus @PHENOTYPICFEATURE$ (SLE), progressive systemic sclerosis (scleroderma), or @DISEASE$.	has_symptom
+c48b66fc0b2650e9f2cf46eac55131a92680fbb6	The first case is a report of a patient age 44, female with @DISEASE$ that started suddenly from full health with generalized linear bluish dark @PHENOTYPICFEATURE$ lesion like excoriations, periocular heliotrope violaceous to dusky erythematous rash with edema in a symmetrical distribution involving periorbital skin with no pruritus, diagnosed on admission as the case of acute urticarica.	has_symptom
+922f6d79860e42c5cb30041fa03d282ff00f243c	The first case is a report of a patient age 44, female with dermatomyositis that started suddenly from full health with generalized linear bluish dark @DISEASE$ lesion like excoriations, periocular heliotrope violaceous to dusky erythematous rash with @PHENOTYPICFEATURE$ in a symmetrical distribution involving periorbital skin with no pruritus, diagnosed on admission as the case of acute urticarica.	false
+a8dfa4f73afa5c98feb42e66b2b97d3ddcc3fe2d	The first case is a report of a patient age 44, female with @DISEASE$ that started suddenly from full health with generalized linear bluish dark erythematous lesion like excoriations, periocular heliotrope violaceous to dusky erythematous rash with @PHENOTYPICFEATURE$ in a symmetrical distribution involving periorbital skin with no pruritus, diagnosed on admission as the case of acute urticarica.	false
+1e53fa4ca3cc487b2bdbe33d47e2f0b0f49ba34a	The patient presented to the hospital with muscle weakness and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ from skin biopsy.	has_symptom
+469b4698bdfa41ad79b4aa8f47bddcc8c5024f33	The patient presented to the hospital with @PHENOTYPICFEATURE$ and @DISEASE$ and was diagnosed with dermatomyositis from skin biopsy.	false
+f5e28d277b17088c8f02cade61a6942b092a7e2c	The patient presented to the hospital with @PHENOTYPICFEATURE$ and erythema and was diagnosed with @DISEASE$ from skin biopsy.	false
+5242867e55cc0e860b646aca47009661c8c50f8d	We present a 67-year old female with facial and cervical @PHENOTYPICFEATURE$ who was initially diagnosed with @DISEASE$.	has_symptom
+452a8de2b995e3c2ddd0b66f3fcb0460f3a3289d	Panniculitis is a rare cutaneous manifestation of @DISEASE$ (DM), typically presenting as tender, @PHENOTYPICFEATURE$ subcutaneous nodules.	has_symptom
+16be2676d5df957b45873fb0fab9cafd71a637c4	Panniculitis is a rare cutaneous manifestation of dermatomyositis (DM), typically presenting as tender, @DISEASE$ @PHENOTYPICFEATURE$.	false
+a6d1e41c8eb3e339528fdf1fbd162d3bc8c5db1f	Panniculitis is a rare cutaneous manifestation of @DISEASE$ (DM), typically presenting as tender, erythematous @PHENOTYPICFEATURE$.	false
+97f29d14b078ac8148f6794a5c4e012c0e428bf2	@DISEASE$ is a rare cutaneous manifestation of dermatomyositis (DM), typically presenting as tender, erythematous @PHENOTYPICFEATURE$.	false
+5c74f2e66cc7d0e5403e4730c824828db5f2445b	Mixed connective tissue disease (MCTD) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly/@DISEASE$ and systemic lupus @PHENOTYPICFEATURE$ in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle.	has_symptom
+1402846030c62566d98dd2af53b4367264de1dbc	Mixed connective tissue disease (MCTD) refers to a disease process with combined clinical features characteristic of systemic lupus @PHENOTYPICFEATURE$, scleroderma, and polymyositis-@DISEASE$.	has_symptom
+73fad1912caee0c9dd259a297fa257711e5e343c	The morphological changes may be macroscopic, such as developmental @PHENOTYPICFEATURE$ in @DISEASE$, including ectopic inferior olives and the absence of corpus callosum and pyramids.	has_symptom
+42cc66b220624b7e1de19dd02d73708877c34134	The morphological changes may be macroscopic, such as developmental @DISEASE$ in pyruvate dehydrogenase deficiency, including ectopic inferior olives and the @PHENOTYPICFEATURE$ and pyramids.	false
+d3ed75cc885f045a3f9a36790b269b6030aac4fa	The morphological changes may be macroscopic, such as developmental abnormalities of the brain in @DISEASE$, including ectopic inferior olives and the @PHENOTYPICFEATURE$ and pyramids.	false
+0a7b05877c271c46c63c88996dbf0c776346fe58	@PHENOTYPICFEATURE$ (@DISEASE$) associated with Sprengel's deformity.	has_symptom
+f5123be5b6fa174826d817b75c60c0217b32d0ec	A case of patent ductus arteriosus coinciding with @PHENOTYPICFEATURE$ (@DISEASE$) is reported for the first time.	has_symptom
+6d3d91129d3dca559ba485c9a088418809bff48b	Dravet Syndrome is a rare @DISEASE$ characterised by @PHENOTYPICFEATURE$, cognitive impairment and motor disorders.	has_symptom
+d6b8a1efc8f5be172efa05bb5ac5d457e5f8c77f	Dravet Syndrome is a rare developmental and epileptic encephalopathy characterised by @DISEASE$, @PHENOTYPICFEATURE$ and motor disorders.	false
+7b20c8266363f4dd42b8b6ee2569129db11d33ae	Dravet Syndrome is a rare @DISEASE$ characterised by epileptic seizures, @PHENOTYPICFEATURE$ and motor disorders.	false
+79d3b18f93eb7278499b068ecd9bbe477eea1916	Developmental plateauing or regression occurred with @PHENOTYPICFEATURE$ in 56 in the context of a @DISEASE$ (DEE).	has_symptom
+97fdde68c0a5c695db628f4a3d7eb6d1b7d2c9de	The spectrum of phenotypes associated with KCNC1 is now broadened to include not only a Progressive Myoclonus Epilepsy, but an infantile onset @DISEASE$, as well as Developmental Encephalopathy without @PHENOTYPICFEATURE$.	has_symptom
+0c35315dc4090dcb2033e95e34b3d7031709d235	SCN8A @DISEASE$ presents intractable @PHENOTYPICFEATURE$ including spasms, focal seizures, neonatal status epilepticus, and nonconvulsive status epilepticus.	has_symptom
+14cf88b06c470d0f8890da74ba22c39caada61b4	Dravet Syndrome (DS) is a rare @DISEASE$ characterized by multiple @PHENOTYPICFEATURE$, frequently prolonged and treatment refractory, with significant developmental disabilities and behavioral and psychiatric disorders.	has_symptom
+95232a08163c8bc493b6be11b2cc3711081931e1	Dravet syndrome (DS) is a severe @DISEASE$ characterized by the onset of prolonged febrile and afebrile @PHENOTYPICFEATURE$ in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment.	has_symptom
+3f822f077b15908eaebfad03d97525592ac1ffd7	Early myoclonic encephalopathy (EME) is a form of @DISEASE$ with myoclonic seizures and a suppression burst on electroencephalogram, which occurs during the neonatal or early infantile period and is characterized by highly intractable @PHENOTYPICFEATURE$ and severe development impairment.	has_symptom
+7e33584f6122647de0fd85962821034fb947da1a	A 15-year-old female patient with @DISEASE$-associated @PHENOTYPICFEATURE$ in both eyes underwent phacoemulsification aspiration and intraocular lens implantation.	has_symptom
+aebbc9a7eb699a0f153fbc64816b3370afc093af	This case report describes a case of @DISEASE$ with developing intraocular lens subluxation and rhegmatogenous retinal detachment 4 years after @PHENOTYPICFEATURE$ surgery.	has_symptom
+8dd950912a3ee315b34d6c9a7440d267b0bd0d81	Two individuals had @PHENOTYPICFEATURE$ confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized @DISEASE$-like skin.	has_symptom
+e3ee2ea94bb15b2a545144880cc7eb16ddaf7d75	Although overlapping features with Bohring-Opitz and @DISEASE$ exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of @PHENOTYPICFEATURE$, and more variability in the degree of intellectual disabilities.	has_symptom
+cf86ca2f0ae35417eb9c475224d82eb16c3e91ac	@DISEASE$ is an unusual cause of recurrent episodes of repetitive @PHENOTYPICFEATURE$, particularly in children.	has_symptom
+6d9e7e7fede608d7ae3e370abb591c879b3a2278	@DISEASE$ (CVS) is a condition whose symptoms are recurring attacks of intense nausea, @PHENOTYPICFEATURE$ and sometimes abdominal pain and/or headaches or migraines.	has_symptom
+948a4c8f47a0d614bec374722cf15cadb3943e86	Cyclic vomiting syndrome (CVS) is a condition whose symptoms are recurring attacks of intense nausea, @DISEASE$ and sometimes @PHENOTYPICFEATURE$ and/or headaches or migraines.	false
+c36709dba0e552641d95a906ef376c0953dbd3e4	@DISEASE$ (CVS) is a condition whose symptoms are recurring attacks of intense nausea, vomiting and sometimes @PHENOTYPICFEATURE$ and/or headaches or migraines.	false
+0bdf64433f89293b163dacf84b05e1a633111260	@DISEASE$ (CVS) is characterized by repeated, stereotypical @PHENOTYPICFEATURE$ episodes.	has_symptom
+daed11c865aeaccdc3df96f774586fb51dae7f6e	@DISEASE$ (CVS) is a severe childhood @PHENOTYPICFEATURE$ disorder of unknown etiology and pathogenesis.	has_symptom
+76d935dd18ab0c355fa530be928b5399c57924ed	@DISEASE$ (CVS) is a disorder characterized by recurrent, stereotypic episodes of incapacitating nausea, @PHENOTYPICFEATURE$, and other symptoms, separated by intervals of comparative wellness.	has_symptom
+a7be3a9dfcaf292b0edbc5c7dfe5c58fee04f70e	@DISEASE$ (CVS) is a disorder characterized by recurrent, stereotypic episodes of nausea, @PHENOTYPICFEATURE$, and other symptoms, separated by intervals of comparative wellness.	has_symptom
+aef4bad2fe62da2380903a5e24ed6599547a354f	@DISEASE$ (CVS) is a disabling functional gastrointestinal disorder characterized by severe @PHENOTYPICFEATURE$ episodes that alternate with symptom-free periods.	has_symptom
+08c9d0910963e6c1875c354c684eb453314e23f9	@DISEASE$ is characterized by repeated, stereotypical @PHENOTYPICFEATURE$ episodes.	has_symptom
+5ea8518f6d53ced7eaf3911b8fe49eb762b1176b	@DISEASE$ (CVS), characterized by severe discrete episodes of nausea, @PHENOTYPICFEATURE$, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features.	has_symptom
+5dc662c1d79b6bc4fcdce428a1b81ef0803bff72	@DISEASE$, which is characterized by severe discrete episodes of nausea, @PHENOTYPICFEATURE$, and lethargy, is a fairly common, disabling, predominately childhood condition.	has_symptom
+da74fcd15f4173c27f4eefc691b0f87ed3c68b73	@DISEASE$ (NMC) is an aggressive type of squamous cell carcinoma that is defined by the presence of BRD-NUT fusion oncogenes, which encode chimeric proteins that block differentiation and maintain @PHENOTYPICFEATURE$ growth.	has_symptom
+100108c6d3bc090ec61ed2a53bb5b741b9de830d	NUT midline carcinoma (@DISEASE$) is an aggressive type of squamous cell carcinoma that is defined by the presence of BRD-NUT fusion oncogenes, which encode chimeric proteins that block differentiation and maintain @PHENOTYPICFEATURE$ growth.	has_symptom
+1464b08f8681e3b27fc1a852c0e6ff1130e505b1	@DISEASE$, which can be diagnosed immunohistochemically, remains an aggressive @PHENOTYPICFEATURE$.	has_symptom
+6e13479c9569d211c85b766d46d1472598d4eec2	@DISEASE$: Current concepts and future perspectives of a novel @PHENOTYPICFEATURE$ entity.	has_symptom
+103f63ded38072eb3afde80f1ae18d3baf6f765e	The mass was diagnosed as an @DISEASE$ @PHENOTYPICFEATURE$ with a novel three-way translocation t(9;15;19; q34;q13;p13.1).	has_symptom
+2a9ffb0e0c8b6a9e30f8b7048377eabab6f07465	In total, 53.5% (n?=?304) CCS, 58.3% (n?=?331) SiCCS, and 37.7% (n?=?214) @DISEASE$ @PHENOTYPICFEATURE$ could be evaluated.	has_symptom
+47369442b8b88c794e6e5ce40e53eac65ce6a098	@DISEASE$ (NMC) is an aggressive subtype of squamous cell carcinoma that typically harbors BRD4/3-NUT fusion oncoproteins that block differentiation and maintain @PHENOTYPICFEATURE$ growth.	has_symptom
+8223dd11783f6ea2b48736ed498a7732c3508885	NUT midline carcinoma (@DISEASE$) is an aggressive subtype of squamous cell carcinoma that typically harbors BRD4/3-NUT fusion oncoproteins that block differentiation and maintain @PHENOTYPICFEATURE$ growth.	has_symptom
+5efb8c1e836eff525d85d2e8b30c678616010385	Two authors independently searched PubMed and Google search for eligible studies from 1950 till July 1 2017 published in English language using MESH terms NUT midline carcinoma; @DISEASE$ and radiotherapy and translocation 15:19 @PHENOTYPICFEATURE$.	has_symptom
+2512d42e4c99f7db4af91c966d443791a8002ab6	Two authors independently searched PubMed and Google search for eligible studies from 1950 till July 1 2017 published in English language using MESH terms @DISEASE$; NUT midline carcinoma and radiotherapy and translocation 15:19 @PHENOTYPICFEATURE$.	has_symptom
+aa8840e7707e23574c8f1e744621a0a600b956e2	@DISEASE$ in a newborn with multiorgan disseminated @PHENOTYPICFEATURE$ and a 2-year-old with a pancreatic/hepatic primary.	has_symptom
+2fcb8fa7f1cd37b3e19b31ad3ff2478730e1b13a	@DISEASE$ is a rare and aggressive @PHENOTYPICFEATURE$ that has primarily been reported in children and young adults.	has_symptom
+46dc2078fb0161b6cfe523a989f815413e7bc0f8	@DISEASE$ (NMC) is recognized as a very rare @PHENOTYPICFEATURE$ that most often occurs around the midline and shows NUT rearrangement.	has_symptom
+00a78c46d2fdf52642891e4a25b6f32f50804745	IL-2-deficient mice develop spontaneous @PHENOTYPICFEATURE$, because of a deficiency of regulatory T cells, and on the BALB/c background, they rapidly die from @DISEASE$.	has_symptom
+80b41a3a5edeff48facb79144239b0219438e7bd	Aire deficiency in humans and mice manifests as spontaneous @PHENOTYPICFEATURE$ against multiple organs, and 20% of patients develop an autoimmune hepatitis (@DISEASE$).	has_symptom
+8208b2dd6e67a8334c217a7d29379623895ff811	Secondary generalized epilepsies, with an associated diffuse @PHENOTYPICFEATURE$, are typified by the @DISEASE$.	has_symptom
+df498f69a00b46d6725237000a1509ea516c4613	The adult patient with @DISEASE$ is clearly affected by global @PHENOTYPICFEATURE$ and is typically characterized by bluntness, apathy, progressive cognitive failure and motoric deficits.	has_symptom
+7661c767beea0f6b41e02437e6c6977ea391ee0a	@DISEASE$ is a severe childhood epilepsy disorder characterized by @PHENOTYPICFEATURE$ and multiple, often intractable, seizure types.	has_symptom
+654b4fcf8c870353c4084405b0bf179e8a13cc72	Lennox-Gastaut syndrome is a severe childhood @DISEASE$ disorder characterized by encephalopathy and multiple, often intractable, @PHENOTYPICFEATURE$ types.	false
+5983f5c54b2000d3151b41ecca11761f0206a2a9	Lennox-Gastaut syndrome is a severe childhood epilepsy disorder characterized by @DISEASE$ and multiple, often intractable, @PHENOTYPICFEATURE$ types.	false
+973a812bde50ce1592fab0d46f23358fd74dc10e	@DISEASE$ is a severe childhood epilepsy disorder characterized by encephalopathy and multiple, often intractable, @PHENOTYPICFEATURE$ types.	false
+61f32ef916dc381173816f6232cafe7c222a3cd2	Symptom complexes include cerebral palsy, static @PHENOTYPICFEATURE$, @DISEASE$, autism spectrum disorder, pervasive developmental delay (PDD), and mitochondrial disorders.	has_symptom
+f3432bc2dd02daac8a412eeebcffe1cc9c14bec3	All together 1847 participants were included into common massive, with Lennox-Gastaut syndrome (@DISEASE$) and similar @PHENOTYPICFEATURE$ syndromes, and with drug-resistant partial epileptic forms.	has_symptom
+38944cb1e368233138770be7011eb363594a8558	All together 1847 participants were included into common massive, with @DISEASE$ (LGS) and similar @PHENOTYPICFEATURE$ syndromes, and with drug-resistant partial epileptic forms.	has_symptom
+924be345ace0d598d8b37071963e712dc323efbc	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic @PHENOTYPICFEATURE$ in infancy, and @DISEASE$, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	has_symptom
+c9eb605f9d2e8c578dfa0915a6e240233d98316f	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic @PHENOTYPICFEATURE$ and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and @DISEASE$, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	has_symptom
+457f4563c6776253881998d791749a5f16912213	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal @PHENOTYPICFEATURE$ encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and @DISEASE$, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+f5d038ce87d71310ac2705ec51b3a2af933c9199	Malignant epileptic encephalopathies in children comprise a series of age-related @DISEASE$ syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive @PHENOTYPICFEATURE$ encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+1322f38b56dc68b44b189da4e0db3fba5507ff24	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal @PHENOTYPICFEATURE$ @DISEASE$ and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+6382e413fd14d8fd0dd9188bf4e05319c4c32568	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal @PHENOTYPICFEATURE$ encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and @DISEASE$, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+6b55070e4078c4316427881f2cbee4f9a7f1e163	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and @DISEASE$, severe myoclonic epilepsy and non-progressive @PHENOTYPICFEATURE$ encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+d5d2ac59e432b6562c14717e86c564c21fd63b99	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal @PHENOTYPICFEATURE$ encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic @DISEASE$ in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+149d4f5b1dcd9c3a9cb7b3163e88dd741e1d4230	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe @DISEASE$ and non-progressive @PHENOTYPICFEATURE$ encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+1ccd7280424120388ef2bcc250d512467b1c6eeb	Malignant epileptic encephalopathies in children comprise a series of age-related @DISEASE$ syndromes: neonatal @PHENOTYPICFEATURE$ encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+ce6430f3345f0ade261c63eef16ff83f08b3301e	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive @PHENOTYPICFEATURE$ @DISEASE$ in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+eb422b5c19c845c7699e9925d8fef0002f7fcac0	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic @DISEASE$ and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive @PHENOTYPICFEATURE$ encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+26ca79bed28da8935fa9872381fcb143165759c5	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive @PHENOTYPICFEATURE$ encephalopathies in infancy, and @DISEASE$, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+c18dc6846a29dbcf7f5cdf6988b52ee1723c0467	Malignant epileptic encephalopathies in children comprise a series of age-related generalized epilepsy syndromes: neonatal @PHENOTYPICFEATURE$ encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe @DISEASE$ and non-progressive myoclonic encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+a5bf42372ce85c1336377165fab0f4894cf800fb	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	has_symptom
+8d637a8340699ce950d0d8f8ade1a098ccd683db	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+59ff1197ef47be16d705a0800735b49bd4d9d44f	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @DISEASE$, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+437eddff46fba243a6148848192c935639edec5a	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+ade61fff4a2299851a0a57bee5e56601a8f51f94	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @DISEASE$, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+79174de3cc0bf5d5818deea841cc2bfffbdc26dc	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+9b64ee9849963b3805233edc68703839e1c7dbf6	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+2468c42cb21c9ada4da1e6affcd3a6162037e293	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+e05b1f05de9c22636c6f7065ac491232e0701ad1	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+1bcab161075e9b37718871bf42e4fff4c530b2ec	@DISEASE$ (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @PHENOTYPICFEATURE$, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	has_symptom
+4d45c842799af51e25ae6faee43629641c08c261	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/@PHENOTYPICFEATURE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, @DISEASE$.	false
+223f9324a396dcc64ba6be4c8b9c9ba4243ce9c7	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, @DISEASE$.	false
+86c1ec9a2185a15fc646914208ddf4cef6bc041f	@DISEASE$ (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/@PHENOTYPICFEATURE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+c903b8d4667e254b12234d39d7ea665b1d36e40b	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @DISEASE$, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+b9aea33ce3df5109be3ba250134656fbf7a51209	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple @DISEASE$ including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+d82a9260f42403fe40b15c835dc45524477f0ef3	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/@PHENOTYPICFEATURE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @DISEASE$, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+285247b4ea575325d0147df941582b61c85f2e4e	@DISEASE$ (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+a10c44a1ea380bd86ed70f6f6d788dc47cf6c742	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple @DISEASE$ including: 1) growth failure/@PHENOTYPICFEATURE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+4ccc4d37bf5efc538d56d4dc889c9e093cf34d34	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	has_symptom
+7184f3687013195c39343644ab300564bec1610b	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @DISEASE$, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+4ec0665c0fc643aad9592f54ec19f6f37d465bb1	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, @DISEASE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+59bd4f91b4e28184a6601c76db8be877294763e2	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @DISEASE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+db1e54214d22d1be322dc90381037450778e0ade	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @DISEASE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+007513542784ced7e5250c9f13918ba09fc1d3d9	@DISEASE$ is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+d400965c51d3b63e62eb59c201d0036f07bc7ac7	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+b5357e453b017deaf54d9799f622c5be02698a33	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+48457142f1268480c8513035a9364708111a5531	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+cee24179f93420062c6d27155d8b59a8be98648a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+0d2fdd64d2ccea76983a894169fb629d7b0ce550	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, @DISEASE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+115c6150924a96b8944b457bbf3284c01363a2d7	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+44244caa593a09bc7e9a3a487547cdaf92d87e6f	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+c08143b48959f839c1c7db5e9de17b217dcfa541	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+38adc3b7017858492b842a589ec1d0643b765bc3	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+2a1c26d36b8fa3abe2a0fbaf47d8760891f3ef93	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+4d484f5a061ad0fbdc8239c28e01c0b4c50ebbc5	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+ae9f5654b2afe70974e08b3814fcc74a991c09f4	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+1a40b80af3fd04d8310534489371cd28c7666614	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+2d5d3f19a0a49a11909892d2a369a2535f64be9f	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+e7a1f24c87c096c8cf2443e3c839737e0a72ec2a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+3f8d1ba3e3c795542cc4750cd9fbeff91e6d8775	The @DISEASE$ is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, @PHENOTYPICFEATURE$, broadening of the bridge and tip of the nose, abnormal ears and retrogenia.	has_symptom
+9dc886b0a490ca5c5006123db9a59a489ff37733	The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to @PHENOTYPICFEATURE$, moderate mental retardation and such characteristic @DISEASE$ anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia.	false
+73e4edadf4c5e1fc00db9e78403f3822771b55b5	The @DISEASE$ is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to @PHENOTYPICFEATURE$, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia.	false
+a1d3c08488c227cb19257e30b43fdd3b484a780a	The Dubowitz syndrome is a rare, @DISEASE$ of intrauterine and postnatal growth retardation leading to @PHENOTYPICFEATURE$, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia.	false
+a91a090dad0dfbaef5e4202aa8f3508104802d1d	The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to @PHENOTYPICFEATURE$, moderate mental retardation and such characteristic facial anomalies as @DISEASE$, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the nose, abnormal ears and retrogenia.	false
+343d048c3d4785b96fd8334d1172f905b3e889e2	The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to @PHENOTYPICFEATURE$, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, @DISEASE$, broadening of the bridge and tip of the nose, abnormal ears and retrogenia.	false
+6f139bcef1251421fc7e2bb00a1298d52aa9ad07	@DISEASE$ is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, @PHENOTYPICFEATURE$, and broadening of the bridge and tip of the nose.	has_symptom
+c6afdcbc25165803cd9bc093741c1ca46394bb99	Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, @DISEASE$, @PHENOTYPICFEATURE$, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose.	false
+bb4cf4dc42c86e22d6982903cbfcde335b623568	Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, @DISEASE$, telecanthus, @PHENOTYPICFEATURE$, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose.	false
+0b448ed8f8f9734b6f11ac96434c7f5fcc12a47f	Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, @PHENOTYPICFEATURE$, blepharophimosis, @DISEASE$, and broadening of the bridge and tip of the nose.	false
+1c9406db302c4b469a585fba0e281d64aa497188	@DISEASE$ is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, @PHENOTYPICFEATURE$, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose.	false
+9725c5a7da3f455d864c87252c294bd9117ed4f1	@DISEASE$, spinal progressive muscular atrophy, progressive bulbar paralysis, spastic spinal @PHENOTYPICFEATURE$, peripheral nerve muscular atrophy].	has_symptom
+419da849fefb8be4556e892732bdb75351a64597	Amyotrophic lateral sclerosis, spinal progressive muscular atrophy, progressive bulbar paralysis, spastic spinal @DISEASE$, peripheral nerve @PHENOTYPICFEATURE$].	false
+e36422a5254fe7ab95b16a5d4164d812c1d2f097	@DISEASE$, spinal progressive muscular atrophy, progressive bulbar paralysis, spastic spinal paralysis, peripheral nerve @PHENOTYPICFEATURE$].	false
+31160bb470aea67f500fd06f069318bce331ab65	Amyotrophic lateral sclerosis, spinal @DISEASE$, progressive bulbar paralysis, spastic spinal paralysis, peripheral nerve @PHENOTYPICFEATURE$].	false
+1f3798d06a504f8439dfe850608954ebdfd39608	Amyotrophic Lateral Sclerosis (@DISEASE$) is an untreatable, neurodegenerative disease of motor neurons characterized by progressive muscle atrophy, limb @PHENOTYPICFEATURE$, dysarthria, dysphagia, dyspnae and finally death.	has_symptom
+006926101a194c332eb820e911f7fd3cff8d97a4	@DISEASE$ (ALS) is an untreatable, neurodegenerative disease of motor neurons characterized by progressive muscle atrophy, limb @PHENOTYPICFEATURE$, dysarthria, dysphagia, dyspnae and finally death.	has_symptom
+3d836553c503dd440dbaf01324509db318b0599c	Amyotrophic Lateral Sclerosis (@DISEASE$) is an untreatable, neurodegenerative disease of motor neurons characterized by progressive @PHENOTYPICFEATURE$, limb paralysis, dysarthria, dysphagia, dyspnae and finally death.	false
+ec9e7514eebdf466de6527f100fd4852e6090c97	@DISEASE$ (ALS) is an untreatable, neurodegenerative disease of motor neurons characterized by progressive @PHENOTYPICFEATURE$, limb paralysis, dysarthria, dysphagia, dyspnae and finally death.	false
+07b93e75834057f8ed3cf1719898b0918e425fc2	Amyotrophic Lateral Sclerosis (ALS) is an untreatable, neurodegenerative disease of motor neurons characterized by progressive @PHENOTYPICFEATURE$, limb @DISEASE$, dysarthria, dysphagia, dyspnae and finally death.	false
+573df785685806817d3a1aefb5f7faa6a9b66ff8	Amyotrophic Lateral Sclerosis (ALS) is an untreatable, @DISEASE$ of motor neurons characterized by progressive @PHENOTYPICFEATURE$, limb paralysis, dysarthria, dysphagia, dyspnae and finally death.	false
+f8c327e905c2f25ac428e8d8ad8fcc98cb0b9454	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by @PHENOTYPICFEATURE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability.	has_symptom
+5a0bd1d0ac171b9fa639af31866105b604f726a5	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @PHENOTYPICFEATURE$ and intellectual disability.	false
+835ebab91067075c9cd5efffa0194156e1565085	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by @DISEASE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and @PHENOTYPICFEATURE$.	false
+7beb90957200588fdf9c445416ba66fcb9a62904	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by @DISEASE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @PHENOTYPICFEATURE$ and intellectual disability.	false
+734573ac6c250ccd2342f94fe5e36f6bfffd0410	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and @PHENOTYPICFEATURE$.	false
+221bd57e20e6010364da536ba01b901b4cdca7fd	@DISEASE$ (BRPS) is a recently identified severe disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphism, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene.	has_symptom
+b04dadf5e962819c3ce3b95bc841ee99905ab87f	@DISEASE$ (BRPS) is a recently identified severe disorder characterized by failure to thrive, @PHENOTYPICFEATURE$, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene.	false
+093c0627435db400e95ee3da2ee5f16f4a98b3bf	Bainbridge-Ropers syndrome (BRPS) is a recently identified severe disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene.	false
+01a7eb974f3039b80b4c1b066ec11351dc5bfd20	The main anesthetic challenges in patients with @DISEASE$ and Rapid-Onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation include hemodynamic instability, the propensity to develop hypothermia, hypercarbia/@PHENOTYPICFEATURE$, and the need to perform bilateral sequential lung isolation requisite to the thoracoscopic implantation technique.	has_symptom
+b883c9f68d882c2246c9ffae2aaef208c87e42b4	Congenital central hypoventilation syndrome (@DISEASE$) is characterized by ventilatory insensitivity to hypercapnia and @PHENOTYPICFEATURE$ during sleep and/or wakefulness.	has_symptom
+02ab7107d96ef12d3d32238771285721aedadbea	@DISEASE$ (CCHS) is characterized by ventilatory insensitivity to hypercapnia and @PHENOTYPICFEATURE$ during sleep and/or wakefulness.	has_symptom
+c7651d18b6a030a4adcaaf48d40b66e4d995e0b5	Individuals with @DISEASE$ typically present in the newborn period with alveolar hypoventilation during sleep and often during wakefulness, altered respiratory control including reduced or absent ventilatory responses to hypercarbia and @PHENOTYPICFEATURE$, and autonomic nervous system (ANS) dysregulation; however, a subset of individuals present well into adulthood.	has_symptom
+0e97aa05505d56113f09de456b18869bc49d401f	The proband had early onset @DISEASE$, his brother and mother had severe and mild @PHENOTYPICFEATURE$, respectively.	has_symptom
+7a5d60b7206483d26a84d1696f98afd995aacd99	Splice variant in ARX leading to loss of C-terminal region in a boy with @PHENOTYPICFEATURE$ and infantile onset @DISEASE$.	has_symptom
+f5085a8e753b467cac61b0a204cafd4c91d1cc39	1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe @DISEASE$ (DEE) and @PHENOTYPICFEATURE$ (ID) to autism spectrum disorders (ASD).	has_symptom
+ac645c9239e122bf9d4a1df14a85b9466ea0a6dc	@DISEASE$ (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe @PHENOTYPICFEATURE$.	has_symptom
+5fa1f7a0c4008779bbb466a41e161a3b3f7125cc	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, facial dysmorphism, severe @PHENOTYPICFEATURE$, skeletal abnormalities, congenital cardiac disease and cortical visual impairment.	has_symptom
+122b7fcf1f399dbe23e78767fe2e81430f1a0447	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and cortical visual impairment.	false
+fc5bc367af4ecc03ac37e06bc17e418ed81cae17	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital cardiac disease and cortical visual impairment.	false
+260e2ea964ce5378c61e171e1673f9436b6a9e28	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital cardiac disease and @DISEASE$.	false
+37cb3df0021d8c8ead2a4255b30f1f0593044a8e	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and @DISEASE$.	false
+c32538a66afe83ccd53c1640562c065f49cbab1e	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe @DISEASE$, @PHENOTYPICFEATURE$, congenital cardiac disease and cortical visual impairment.	false
+275a42f5beba213aa54c3b537cf0a224014fe01d	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe @DISEASE$, skeletal abnormalities, congenital cardiac disease and cortical visual impairment.	false
+ec33272c17ac77693d1f48f9fa6b12d5e155bddd	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital @DISEASE$ and cortical visual impairment.	false
+37a40417a3ecc232d9cc64b228c4ab0b278eb218	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital @DISEASE$ and cortical visual impairment.	false
+efbbe26b81653ff99e27ebae79469b568334b570	@DISEASE$ (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and @PHENOTYPICFEATURE$ (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity.	has_symptom
+5e8c7705e013db2bf6ca16da0cbd308664732dda	@DISEASE$ (CS) is considered an @PHENOTYPICFEATURE$ disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for failure to thrive.	has_symptom
+61feb8c53d11464a076b0c9bf63c5c73b1e8422c	Costello syndrome (CS) is considered an @DISEASE$ disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for @PHENOTYPICFEATURE$.	false
+bebd48256bf1453aab4d91fcc617d4e102beb8bc	@DISEASE$ (CS) is considered an overgrowth disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for @PHENOTYPICFEATURE$.	false
+ef21a1f5cfa77609401c42fc867597fc0b26290e	Fetal edema, not @PHENOTYPICFEATURE$, is associated with neonatal lethal @DISEASE$ due to the HRAS p.Gly12Val mutation.	has_symptom
+6b56baaa4d54cc8cec4f13fec929b541bb6f5384	Fetal @PHENOTYPICFEATURE$, not overgrowth, is associated with neonatal lethal @DISEASE$ due to the HRAS p.Gly12Val mutation.	false
+677f707c4fe19d8b74372750dc8d8c5795d88eb8	Fetal @PHENOTYPICFEATURE$, not @DISEASE$, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.	false
+cedf5c5d3046f893a1d0d83229951cf4917c8a37	@DISEASE$ @PHENOTYPICFEATURE$, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.	false
+a44817472014cd5d02d1fb7e8a378bc3f6d640b8	Based on this study, ultrasound identification of polyhydramnios in the context of prenatal @PHENOTYPICFEATURE$, especially with relative macrocephaly, needs to raise the possibility of a diagnosis of @DISEASE$ in the fetus because of the life-threatening cardiac complications that may occur early in the newborn period.	has_symptom
+a9d6acbfe3ab2e84426fdc6f9c454271d6c5f92f	@DISEASE$ is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal @PHENOTYPICFEATURE$, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.	has_symptom
+396cda6b56357e38623ae629352af6c03cc931ea	@DISEASE$ is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and @PHENOTYPICFEATURE$.	false
+4e3af2ee39cafd7379bd7a0c6f24b5a4bdddace8	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, @PHENOTYPICFEATURE$, classic facial gestalt and multisystem involvement including @DISEASE$ and intellectual disability.	false
+0add56f50d7f3a1352c481247d6d8c1a04a22b1a	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal @DISEASE$, @PHENOTYPICFEATURE$, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.	false
+a4dcf20308d4f833c8a7005b71abd3e5624e913c	@DISEASE$ is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, @PHENOTYPICFEATURE$, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.	false
+09ec804b59824a68d4879933303937c3cdced1be	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6ef4bd259169108051fd404f36159e954514bb63	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal @DISEASE$, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and @PHENOTYPICFEATURE$.	false
+53a3ecf7fb929681b7095382b2d0afdfe6d65fb5	@DISEASE$ is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar @PHENOTYPICFEATURE$ resulting in Chiari 1 malformation, and cognitive disabilities.	has_symptom
+89094a8d35ade414d17353b5c5853ab3a4ea0489	Costello syndrome is characterized by severe failure-to-thrive, short stature, @PHENOTYPICFEATURE$ (heart defects, tachyarrhythmia, and @DISEASE$ (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+395b484f5a0657bbdb286217bb8929b86e8fbf69	Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (@PHENOTYPICFEATURE$, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and @DISEASE$, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+eaa808ec3d046d77453febff79392670be562b06	Costello syndrome is characterized by severe failure-to-thrive, @PHENOTYPICFEATURE$, cardiac abnormalities (heart defects, tachyarrhythmia, and @DISEASE$ (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+9f9452403cb41604a551d6f1ccadb51ad9d4479a	Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (@PHENOTYPICFEATURE$, tachyarrhythmia, and @DISEASE$ (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+2fe77e615ee5b83a40e67f50b93b2195baab5ebd	@DISEASE$ is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (@PHENOTYPICFEATURE$, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+226d85c743289808c4b19d310b7040012a6fe07f	Costello syndrome is characterized by severe failure-to-thrive, @PHENOTYPICFEATURE$, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar @DISEASE$ resulting in Chiari 1 malformation, and cognitive disabilities.	false
+dfee8fcebb61d5197847f61124b705ce6aef896c	Costello syndrome is characterized by severe failure-to-thrive, short stature, @PHENOTYPICFEATURE$ (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and @DISEASE$, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+4abe36a3fbc6b6dad22df4943d3c7c2fade193b9	Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (@PHENOTYPICFEATURE$, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar @DISEASE$ resulting in Chiari 1 malformation, and cognitive disabilities.	false
+755b2c7a324f07767fc8ed5979603f10c081db57	Costello syndrome is characterized by severe failure-to-thrive, @PHENOTYPICFEATURE$, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and @DISEASE$, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+61e87eb17a36638f45ea3d0bb200dd57e76928f5	Costello syndrome is characterized by severe failure-to-thrive, short stature, @PHENOTYPICFEATURE$ (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar @DISEASE$ resulting in Chiari 1 malformation, and cognitive disabilities.	false
+c2cc45be57a1a4d35b094a3e4fba91b27b136c15	@DISEASE$ is characterized by severe failure-to-thrive, short stature, @PHENOTYPICFEATURE$ (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+a2e006602f827a0a2d3fffd901cba4ce968de2e5	@DISEASE$ is characterized by severe failure-to-thrive, @PHENOTYPICFEATURE$, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+e05693b2118c042f90d9a9c402b0e761419fa95c	We report two sisters with @PHENOTYPICFEATURE$, coarse facial features, @DISEASE$, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers.	has_symptom
+d472dcbb12f083020b37bae63bd8d93847e5202b	The common findings are mild dysmorphic features (@DISEASE$, epicanthal folds, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, @PHENOTYPICFEATURE$ with speech delay and lack of major malformation.	has_symptom
+71a43c101fae7f77184a11833ea833f478614f0f	The common findings are mild dysmorphic features (@DISEASE$, epicanthal folds, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, mental retardation with @PHENOTYPICFEATURE$ and lack of major malformation.	false
+e359f78bebf104650ec27fb914805ce31fc54581	The common findings are mild dysmorphic features (telecanthus, @PHENOTYPICFEATURE$, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, @DISEASE$ with speech delay and lack of major malformation.	false
+6c50b3842fa670c85d386eb6193ad48428f0ed38	The common findings are mild dysmorphic features (@DISEASE$, @PHENOTYPICFEATURE$, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, mental retardation with speech delay and lack of major malformation.	false
+8a075a3ed9f2aadcf684400c87e15da1f4a2d51d	The common findings are mild dysmorphic features (telecanthus, epicanthal folds, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, @DISEASE$ with @PHENOTYPICFEATURE$ and lack of major malformation.	false
+c404d98b119e7fd7390a603ba915da3aaf4b810c	Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with @PHENOTYPICFEATURE$, developmental delay, and similar dysmorphic features including @DISEASE$, epicanthus, arched eyebrows, and low-set ears.	has_symptom
+ec09ecf093156c87dcb397a9d7c6cfa8d63fb8da	Toriello-Carey is a rare multiple malformation/@PHENOTYPICFEATURE$ syndrome characterized by dysmorphic features, including @DISEASE$/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence.	has_symptom
+a9e307c6220c30d5e24c1f3f6333c6554c5349ad	Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including @DISEASE$/@PHENOTYPICFEATURE$, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence.	false
+4678b16c2e2193d21eba5fafa0299e77f7d3e116	Toriello-Carey is a rare multiple malformation/mental retardation @DISEASE$ characterized by dysmorphic features, including telecanthus/@PHENOTYPICFEATURE$, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence.	false
+bdedc003174aa1bee12b2a5c0a1498d12b0e8d87	Toriello-Carey is a rare multiple malformation/@DISEASE$ syndrome characterized by dysmorphic features, including telecanthus/@PHENOTYPICFEATURE$, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence.	false
+4c9cbd38e84488d5e85aced8b331db5ab4a29b85	We report on a patient with primordial growth retardation, @PHENOTYPICFEATURE$, and minor anomalies (triangular face, open sagittal suture, frontal bossing, @DISEASE$, upturned nose, micrognathia, and small mouth with downturned corners).	has_symptom
+f6caa4ee895417fc1cc4b9b87b987a636a2c9b71	We report on a patient with primordial @PHENOTYPICFEATURE$, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, @DISEASE$, upturned nose, micrognathia, and small mouth with downturned corners).	false
+9aa02b53045c936013c98dfbcda60299176b9b1a	We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, @DISEASE$, upturned nose, @PHENOTYPICFEATURE$, and small mouth with downturned corners).	false
+cec63f348107fbe6950f02524c848acaefa9ebf6	We report on a patient with primordial @PHENOTYPICFEATURE$, @DISEASE$, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners).	false
+99600bc07fab9f5728a28e47b4c1df393f6ddb2c	We report on a patient with primordial growth retardation, @DISEASE$, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, @PHENOTYPICFEATURE$, and small mouth with downturned corners).	false
+a06334f6cffe8bccee0056af40dc6053f15e321f	Both have postnatal growth retardation, @PHENOTYPICFEATURE$, apparently low-set or malformed ears, and @DISEASE$.	has_symptom
+996dd49498234fc2443a1f19de3838d14ec47bda	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and micrognathia.	has_symptom
+31ebad12b6283c0d4814792873d08cac9aac2c2b	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, @DISEASE$, ptosis, and @PHENOTYPICFEATURE$.	false
+66e61bcc8e0c8322f9de03f5ef3d4fac7e663f11	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and micrognathia.	false
+40473f09231150016b4e4e051fb4efc26b1e0766	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @DISEASE$, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	false
+674ea7c6364130c63e67c2ce883a5068bf7667f6	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	false
+e4e85734b9c254bea7f9afdff486f99050c717bd	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	false
+63cecf40871ee94f18b01549af4b56890f462db4	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @DISEASE$, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	false
+8ed2e1ddf5cdebcb5d993105e3c43876199ca64b	Radial ray defects, triangular face, @DISEASE$, sparse hair, dwarfism, and @PHENOTYPICFEATURE$.	has_symptom
+e19f2b6cbdcc705ad48369596161fbd7454bdfef	Growth and @PHENOTYPICFEATURE$, congenital heart disease and @DISEASE$ are the other most constant features.	has_symptom
+9768d8fef28a945bd785ea5cc158682c6e19e091	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and micrognathia.	has_symptom
+4ac226a2bdf1eb22193ab283303f03a442fce041	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	false
+5d978127a9e9d759eaf2005937f7a5a1069387f7	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @DISEASE$, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	false
+6befd7b25512f302c74685826d5c62054b85fefe	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and micrognathia.	false
+5f7812b20f2ff1e1c52a4e2e1261bc9f72b3e6c6	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @DISEASE$, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	false
+3d40ad84ffd9dfdf1e709a138a93b4e038ab1fbc	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	false
+0229b434abb7850471ad44d1f4204f75c40e8e83	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, @DISEASE$, ptosis, and @PHENOTYPICFEATURE$.	false
+01d18a11baa90b1db683db5464fcedeb7be66ce3	Two hundred seventy such patients were identified and were categorized as those with unclassified IUGR and those with Russell-Silver syndrome/primordial @PHENOTYPICFEATURE$ (RSS/@DISEASE$).	has_symptom
+44cc7d51e05e49576aeb8b45bd656c1dfc3db514	To compare length-based estimates of endotracheal tube (ETT) size and age-based estimates with anesthesiologist-selected ideal ETT size in children with medical conditions affecting normal growth, known as pathological @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+15e5b649a580e2145c7c483be1313410ebaa4656	A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including @DISEASE$ deficiency, @PHENOTYPICFEATURE$, and short neck-a case report and review of the literature.	has_symptom
+695881b4c5a9ec8f178e3fe19a8c03337ab5d6ab	We report a novel LHX3 mutation, which is associated with combined pituitary hormone deficiency including @DISEASE$ deficiency, short neck, and @PHENOTYPICFEATURE$.	has_symptom
+752bdc9fdc816047f93c99cc2303b171a3c906ee	He had clinical characteristics of @DISEASE$, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, @PHENOTYPICFEATURE$ and polydactyly of the feet, and growth failure.	has_symptom
+f516f6cc5dc02987cda3be761d5e3745aa87a345	He had clinical characteristics of Escobar syndrome, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, @DISEASE$ and @PHENOTYPICFEATURE$ of the feet, and growth failure.	false
+2c82d1fc36a18ead7f9345c5b20067f45a2bba17	He had clinical characteristics of Escobar syndrome, including palpebral @PHENOTYPICFEATURE$, auricular anomalies, pterygia with contracture of the elbow and knee joints, @DISEASE$ and polydactyly of the feet, and growth failure.	false
+cd4bcd7962d3b702047c920042bae2d50e411b8a	He had clinical characteristics of @DISEASE$, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and @PHENOTYPICFEATURE$ of the feet, and growth failure.	false
+01cb519101b7d12059a60b6faa812d601b585789	He had clinical characteristics of @DISEASE$, including palpebral @PHENOTYPICFEATURE$, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and polydactyly of the feet, and growth failure.	false
+719b3cbf6d356c77221d6101c0effdf628f2473d	@DISEASE$ (PWS) is a genetic disorder characterised by severe infantile hypotonia, @PHENOTYPICFEATURE$, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and short stature.	has_symptom
+aacd1506f3237ccc8487b8703e69ec70a93dc95f	@DISEASE$ (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and @PHENOTYPICFEATURE$.	false
+0bd84026fbb4366a737573104b11cfc8975cafd3	Prader-Willi syndrome (PWS) is a @DISEASE$ characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and @PHENOTYPICFEATURE$.	false
+0664ccb685c62820428728585452f1889da08c80	Prader-Willi syndrome (PWS) is a @DISEASE$ characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/@PHENOTYPICFEATURE$ and short stature.	false
+9b69db995b6ec71d0eda75887765b5912b419a6c	Prader-Willi syndrome (PWS) is a @DISEASE$ characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset @PHENOTYPICFEATURE$/hyperphagia, developmental delay/intellectual disability and short stature.	false
+e03b44117c54962bf01fb546c7a7b0df63ee0633	@DISEASE$ (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset obesity/hyperphagia, developmental delay/@PHENOTYPICFEATURE$ and short stature.	false
+424ada519aa16b97419fb40d60826caad80a0814	@DISEASE$ (PWS) is a genetic disorder characterised by severe infantile hypotonia, hypogonadotrophic hypogonadism, early childhood onset @PHENOTYPICFEATURE$/hyperphagia, developmental delay/intellectual disability and short stature.	false
+351d48226a7753aa7bbe4f6ec8622244a9c2e35a	Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, @DISEASE$, early childhood onset obesity/hyperphagia, developmental delay/@PHENOTYPICFEATURE$ and short stature.	false
+09c7050a3948d12657ae857445cec0d3a8184015	Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, @DISEASE$, early childhood onset obesity/hyperphagia, developmental delay/intellectual disability and @PHENOTYPICFEATURE$.	false
+2c9498ca506217e9a0c908bc3919e7217dfe5a96	Prader-Willi syndrome (PWS) is a genetic disorder characterised by severe infantile hypotonia, @DISEASE$, early childhood onset @PHENOTYPICFEATURE$/hyperphagia, developmental delay/intellectual disability and short stature.	false
+6fbfa8a4225de92cd8e8614931862589d4002987	@DISEASE$ (PWS) is a complex genetic disorder characterized by hyperphagia, obesity and @PHENOTYPICFEATURE$, all highly suggestive of hypothalamic dysfunction.	has_symptom
+10db3865f2fcae8ae33c2e21f3c1c2c698949e7f	Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia, @PHENOTYPICFEATURE$ and @DISEASE$, all highly suggestive of hypothalamic dysfunction.	false
+7d72843e3f0beec7b7a21d7c8c1284c86f0026ca	Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia, @PHENOTYPICFEATURE$ and hypogonadotrophic hypogonadism, all highly suggestive of @DISEASE$.	false
+0f5e72008343b46d68053007581a1f596ef81335	Prader-Willi syndrome (PWS) is a complex @DISEASE$ characterized by hyperphagia, @PHENOTYPICFEATURE$ and hypogonadotrophic hypogonadism, all highly suggestive of hypothalamic dysfunction.	false
+0b7487b772c2dc482d547279913cfd6a09680f61	@DISEASE$ (PWS) is a complex genetic disorder characterized by hyperphagia, @PHENOTYPICFEATURE$ and hypogonadotrophic hypogonadism, all highly suggestive of hypothalamic dysfunction.	false
+285f3d8c969bda9cf4ea785afd695d3dfe9b123a	@DISEASE$ (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, short stature, temperature instability, @PHENOTYPICFEATURE$, and neurosecretory growth hormone deficiency.	has_symptom
+58f0c770d1fdb609293f9686a7bc1bd8953d14b5	@DISEASE$ (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, @PHENOTYPICFEATURE$, temperature instability, hypogonadotropic hypogonadism, and neurosecretory growth hormone deficiency.	false
+b8d0cb5fb38cabf71135d1865485496ce0833eda	Prader-Willi syndrome (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, @PHENOTYPICFEATURE$, temperature instability, @DISEASE$, and neurosecretory growth hormone deficiency.	false
+f0d5d61ad56802b864c75cdd90b60ef688d51c94	This abnormality was associated with hypothalamic-pituitary deficiency in 12 boys (@PHENOTYPICFEATURE$, hypopituitary growth failure, @DISEASE$), with testicular disorders in 5 boys (anorchia, testicular dysgenesis).	has_symptom
+1815bec88ec068bad288ee0f4e65017ca55fa1aa	@DISEASE$ (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+e96ec44b5a721ad5410bd836d2b56eac8cce7a8f	@DISEASE$ (PWS) is a genetic disorder frequently characterized by @PHENOTYPICFEATURE$, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism.	false
+8d5d3a809459c2ac8259599fe66424cb766e1ec3	Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3c3de9554a9ce48861a6b0d78335003cc04ae738	Prader-Willi syndrome (PWS) is a @DISEASE$ frequently characterized by @PHENOTYPICFEATURE$, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism.	false
+4ab638abfd638153b2af4cf6d2f2aefefb803e46	Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by @PHENOTYPICFEATURE$, growth hormone deficiency, genital abnormalities, and @DISEASE$.	false
+8f88df8a1dce8a0290081e1471daf1728656be23	Prader-Willi syndrome (PWS) is a @DISEASE$ frequently characterized by obesity, growth hormone deficiency, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+93577c423f72ffb1baa870db490e9368f0b85c8a	@DISEASE$ (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+41bcb8f79d8601a1c59c7962f6050b77386742b8	In addition to obesity, @DISEASE$ includes several other endocrinopathies, such as hypothyroidism, growth hormone deficiency, and @PHENOTYPICFEATURE$.	has_symptom
+86d7ed11ed5b147bbb224731b5b3b5557fe675f5	In addition to @PHENOTYPICFEATURE$, Prader-Willi syndrome includes several other endocrinopathies, such as hypothyroidism, growth hormone deficiency, and @DISEASE$.	false
+ba01d64356842e98c79d21bd9ca5dc0198823908	In addition to @PHENOTYPICFEATURE$, @DISEASE$ includes several other endocrinopathies, such as hypothyroidism, growth hormone deficiency, and hypogonadotropic hypogonadism.	false
+2f6152b1bc7b82647b5b16b0408c6031e23a8868	In addition to @PHENOTYPICFEATURE$, Prader-Willi syndrome includes several other endocrinopathies, such as @DISEASE$, growth hormone deficiency, and hypogonadotropic hypogonadism.	false
+3343108d42da8df17f17b6f12ef24bbf062e6b06	All patients with @PHENOTYPICFEATURE$ (three with Kallmann's syndrome, one @DISEASE$, and two idiopathic hypogonadism) appeared normal.	has_symptom
+a6a35d90ca0af62d94d44e7e89c9446ed8cfe6fa	The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human genome, whose deletion is commonly associated with @DISEASE$ (PWS) and @PHENOTYPICFEATURE$.	has_symptom
+31c0619eb675cb413d79bd8540fdfee1aa2b8119	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @PHENOTYPICFEATURE$.	has_symptom
+4ca996d6adbffe1b00f68cc9a4a06d9f6f0a9c6e	Prader-Willi syndrome is an uncommon multisystem @DISEASE$ caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @PHENOTYPICFEATURE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+f34804c20743639f43f83bba9711bc698c19a9e8	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+42b63112a1fc2cb46d213cf331a0b7dc635b2ebd	Prader-Willi syndrome is an uncommon multisystem @DISEASE$ caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+4d2f1666153a427164bb026dd40324117e4f6010	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The @DISEASE$ is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+da02edb2cd2042f5bbefda039c218076feaa3521	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+913c24271cf78a5a756f25d79e003e416fed9908	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The @DISEASE$ is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+0268acbff384f6c2fc401bcd963d8bc79caa3746	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @DISEASE$.	false
+47d81b12539bacae928eb8e157f5676fad7947b6	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @PHENOTYPICFEATURE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @DISEASE$.	false
+2951ad127aea0c760a88ef5d5a29d7949a519985	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @PHENOTYPICFEATURE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+10fa9e963b2adfc4d1ff0ced3319e980105b4242	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9a16eac2aba2cf97048ffe188aa161c9cc1d0acf	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The @DISEASE$ is characterized by neonatal hypotonia, @PHENOTYPICFEATURE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+f5e5dd9021bccb8191fcaaf2e6a662f8b6aa9dce	Prader-Willi syndrome is an uncommon multisystem @DISEASE$ caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+93e49de55d92b4e133210fef878cec3599ba1590	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+2f00e5caad41f0aaba99890da02d55c259636eff	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+2c5b7003c61f3a86927222ecd450c56fd3352fd7	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+80911c3408cdf04f03aa3ebe0b9fa7bd4f9b8c54	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and @DISEASE$.	false
+5139116b19db4bfd1f7a156909360d0dbd3cbc76	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+ee27df68ebc19dea62a459eb9f3b193d43ad10f6	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and @DISEASE$.	false
+44f1fe5403c4eb23dccaa828eb4be323dba97fc5	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+aa0a1437771add1db4bba176d828d02a052f5f9d	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+78d2371697fd32cb6123d6fe214013250d895387	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+248273943e96264ae39f015a00e912716751bb15	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+20b28b8410edf5c12b247ede38b78ce267aac301	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and @DISEASE$.	false
+96c956e64d6a98210bf86d73a3b767421192d5f7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	has_symptom
+bb108d8f1e331a3e192f9cf259e9f67aa2fee8d7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @DISEASE$, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+0f8886c3a45621fb9dca49c158c619947c6e5060	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8411ca523b05980a8ee2db86ed8172ff300d9a35	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+e95e16c8f1922381bb3cd426b736173ba9ab0eb7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+97c60795bb56d4ed0fe1947c839a225da96a6e88	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+9e8d886b49344041acdca5d49b9b0d69498bbded	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+fb73335af051dff7ea0913c9bef45f4a0b58d78a	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+652aabe68dfe8a906aef53e986ff66de45e30456	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+d75a36a46ba1583f725a6b66daa42a0484e083d1	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+26bb65abb58cd8853f25e6814cc70ca61d4057ca	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+40a1887773095632466499076eae22d78e674265	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+f47a0beee0097d79085094b71dd5eac545f1fb8d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+604bd9ebf32a5b1bf768d614e2caa53751455a08	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @DISEASE$, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+f0343acc11cfc7e2ca0f73c5a2f656dbfa25ceb9	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @DISEASE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+defcd9ddc76949a24b804a03d9004a052b3cf301	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8c83c7a25ca7a7e133fe1b626ae54e092145278d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9ed9083a39f4473f329dc0f7a7312acba24047b7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+3463fca8a6df37328346282ae7884d9e3a0bdeb4	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+953d0632094e4f494f2559c77dc9727ec75356e5	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+4b118bccb473fb67751198b932b8174d6cfae470	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @DISEASE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+149ec09649de23dbfed527f1dc324bb8f4f76648	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+a3dc7caa47f7101396d156911c0d181b6ff8f8b7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+83521e40ca71e7ed7c2cfdc99207aebbf8a17625	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+60559ead1457916d071298038ba2df4b799372a3	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+4f908fbea727bb325b353594cec1f6f6f31e6fd4	Adamantiadis-@DISEASE$ constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative arthritis, central nervous system disorders as well as ulcerations of the epidermis, nodular @PHENOTYPICFEATURE$, thrombophlebitis and vision disorders.	has_symptom
+cc3978e7119edf53ca875b5add079883f551598b	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @PHENOTYPICFEATURE$, @DISEASE$ as well as ulcerations of the epidermis, nodular erythema, thrombophlebitis and vision disorders.	false
+ebf6a17209ef1ca6a32878e00aec8ce17af78ccc	Adamantiadis-@DISEASE$ constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @PHENOTYPICFEATURE$, central nervous system disorders as well as ulcerations of the epidermis, nodular erythema, thrombophlebitis and vision disorders.	false
+307dded9375175dd4270244e3e0204a0a0507fdd	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @PHENOTYPICFEATURE$, central nervous system disorders as well as ulcerations of the epidermis, nodular erythema, thrombophlebitis and @DISEASE$.	false
+185453c6c47111e19d111062444d5ba2fcf71cc9	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @PHENOTYPICFEATURE$, central nervous system disorders as well as ulcerations of the epidermis, nodular @DISEASE$, thrombophlebitis and vision disorders.	false
+a993be5a7bdf2e191d35dda53f81021496d490e5	Adamantiadis-Behcet syndrome constitutes systemic angiitis of unknown etiology that is characterized mainly by recurrent ulcers of the mouth and genital organs, serum negative @PHENOTYPICFEATURE$, central nervous system disorders as well as ulcerations of the epidermis, nodular erythema, @DISEASE$ and vision disorders.	false
+1f0a91bab32a6920118514b83a41406877065315	Neutrophilic dermatosis (ND; Sweet syndrome and pyoderma gangrenosum) was the most prevalent AIM (n?=?24 36%]), followed by @DISEASE$ (10 [15%]), rheumatoid arthritis (9 [13%]), vasculitis (8 [12%]), myositis (3 [4%]), spondyloarthropathy (3 [4%]), and systemic lupus @PHENOTYPICFEATURE$ (2 [3%]).	has_symptom
+c773553aed98b70b0513bb341d809a56cfa5b6e2	@DISEASE$ presents with mild @PHENOTYPICFEATURE$ and typically has a benign course.	has_symptom
+1c81757f0edfcbb57b1a7bed3e5477dea8f00077	@DISEASE$ is an early-onset benign myopathy characterized by proximal @PHENOTYPICFEATURE$ and multiple flexion contractures.	has_symptom
+24f1230f4e6fc98cb59d237bb405674d4501737d	Bethlem myopathy is an early-onset benign @DISEASE$ characterized by proximal muscular weakness and multiple @PHENOTYPICFEATURE$.	false
+0f313ba6b524026afcd71da8915420e6657e0655	@DISEASE$ is an early-onset benign myopathy characterized by proximal muscular weakness and multiple @PHENOTYPICFEATURE$.	false
+66cfd512abccd9f17155c99ce0b1b71db66927c9	Bethlem myopathy is an early-onset benign myopathy characterized by proximal @DISEASE$ and multiple @PHENOTYPICFEATURE$.	false
+481c73696e417e6ab853447c04c22ccb871b6258	@DISEASE$ is a mild neuromuscular disorder with proximal @PHENOTYPICFEATURE$ and early flexion contractures.	has_symptom
+dd44e45ae852843631c2348b22a313df6f6ece52	Bethlem myopathy is a mild neuromuscular disorder with proximal @DISEASE$ and early @PHENOTYPICFEATURE$.	false
+a36b2dc83acca456ffcc6e93f14fb4a35ec040a6	@DISEASE$ is a mild neuromuscular disorder with proximal muscular weakness and early @PHENOTYPICFEATURE$.	false
+e38f2df906f8fed07af00686846e961810c6975c	@DISEASE$ is an autosomal dominant inherited disease producing a mild neuromuscular disorder, characterized mainly by @PHENOTYPICFEATURE$ and multiple joint contractures.	has_symptom
+c231c0ed903bfba92284cce73da6619f8e880b64	This study describes 102 members of a family (5 generations), of whom 42 were found to have Meyer-Schwickerath @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+bb7126fed8501b991a4e9bbae3fd8951fbc1eb3c	[@DISEASE$ with @PHENOTYPICFEATURE$].	has_symptom
+e194daf3545ab500ee15dc159d8d7cdca4c9d748	Radiographic findings in hypothalamic acceleration of growth associated with @PHENOTYPICFEATURE$ and mental retardation (@DISEASE$).	has_symptom
+b911cede1788fef8f7b367902c3ec51e2a6059bc	Radiographic findings in hypothalamic acceleration of growth associated with cerebral atrophy and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+d107eed295cfd3ab330185e455c353f3e5162ffe	Radiographic findings in hypothalamic acceleration of growth associated with @DISEASE$ and @PHENOTYPICFEATURE$ (cerebral gigantism).	false
+ee27df68ebc19dea62a459eb9f3b193d43ad10f6	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and @DISEASE$.	has_symptom
+2f00e5caad41f0aaba99890da02d55c259636eff	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+80911c3408cdf04f03aa3ebe0b9fa7bd4f9b8c54	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and @DISEASE$.	false
+214dd3b7000adc009afd55736a5669dd864e7ae2	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @DISEASE$, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+5139116b19db4bfd1f7a156909360d0dbd3cbc76	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+dd39790625312616fe675abdde685a03e36841ec	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+7b553788797f0a46e710b224b55bd866c350bc35	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @DISEASE$, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+c55b41ed336b726dd770a5bac0d0c35bbd6d4571	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @DISEASE$, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+44f1fe5403c4eb23dccaa828eb4be323dba97fc5	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+aa0a1437771add1db4bba176d828d02a052f5f9d	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+78d2371697fd32cb6123d6fe214013250d895387	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+248273943e96264ae39f015a00e912716751bb15	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+20b28b8410edf5c12b247ede38b78ce267aac301	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and @DISEASE$.	false
+c36709dba0e552641d95a906ef376c0953dbd3e4	@DISEASE$ (CVS) is a condition whose symptoms are recurring attacks of intense nausea, vomiting and sometimes @PHENOTYPICFEATURE$ and/or headaches or migraines.	has_symptom
+f62e055f4bd995e2b851bff34ca62e9ce96b61b4	Cyclic vomiting syndrome (CVS) is a condition whose symptoms are recurring attacks of intense nausea, @PHENOTYPICFEATURE$ and sometimes @DISEASE$ and/or headaches or migraines.	false
+6d9e7e7fede608d7ae3e370abb591c879b3a2278	@DISEASE$ (CVS) is a condition whose symptoms are recurring attacks of intense nausea, @PHENOTYPICFEATURE$ and sometimes abdominal pain and/or headaches or migraines.	false
+2939a0a8495adfb1361747bddb315576fce1916a	@DISEASE$ is characterized by sudden episodes of vomiting and @PHENOTYPICFEATURE$.	has_symptom
+6c1e7bb1297c32ec24bd3a5b51dc5f89814f8fcb	@DISEASE$ (CVS) is characterized by recurrent episodes of incapacitating nausea or vomiting accompanied by @PHENOTYPICFEATURE$, interspersed with relatively symptom-free intervals that might last from a few weeks to months.	has_symptom
+5daa25e61556304e05694a7a6bff19893957e520	We report a 42-year-old man with @DISEASE$, an autonomic disorder characterized by lifelong severe orthostatic hypotension, @PHENOTYPICFEATURE$, nasal stuffiness, hyperextensible joints, and retrograde ejaculation.	has_symptom
+fb274849f711983c63b7a7be8ef4835ec213f101	[@DISEASE$ discovered in a patient with @PHENOTYPICFEATURE$].	has_symptom
+b16f778537fd2688aa61045430cef8439ee52d69	Both primary hypergonadotropic and secondary @DISEASE$ may appear with @PHENOTYPICFEATURE$.	has_symptom
+93d92c3edb3dadd5f4371760fe5486c74602c810	[Syndrome of @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+babef2b14a284f9e142c37a5a91cfc18ce2e9f76	@PHENOTYPICFEATURE$ with @DISEASE$ is a rare condition.	has_symptom
+d9f58f7e91b5ff2450d0384ebeca60076b35a7bd	Uncommon types such as ataxia with @DISEASE$ and @PHENOTYPICFEATURE$ with oculomotor apraxia were encountered.	has_symptom
+e8667f5454ecd7093b6a797fb269c18352c18108	Uncommon types such as @PHENOTYPICFEATURE$ with @DISEASE$ and ataxia with oculomotor apraxia were encountered.	has_symptom
+1958350a67cc2035e2fc105d34bb457b97b7456e	@PHENOTYPICFEATURE$ and @DISEASE$ with Intrafamilial Variability Caused by RNF216 Mutation.	has_symptom
+34a4880f322406af88b12b130e6609d13e1b7e15	Degenerative spinocerebellar @PHENOTYPICFEATURE$ has a rare association with @DISEASE$.	has_symptom
+b41ad9b532130aeb37e42d309a095bd4473eb16e	[@PHENOTYPICFEATURE$ with @DISEASE$].	has_symptom
+bb81c77e7b1f7c6238e6abb8c61e803629534fcb	[@PHENOTYPICFEATURE$ with @DISEASE$ and mental disturbance].	has_symptom
+3d2fbf53459eae11aaad73f9f1126b38d09b197c	Familial @PHENOTYPICFEATURE$ and @DISEASE$: evidence for hypothalamic LHRH deficiency.	has_symptom
+87c1383be2ab389c235e9cf9e19f328983d37d67	Clinical seizures ceased during six months of clomiphene citrate therapy in a 36-year-old man who had @DISEASE$, reproductive dysfunction, and a 16-year history of regular @PHENOTYPICFEATURE$.	has_symptom
+ecf1b7d4f5d48cd9b8a7c4b86e9cefa059af8453	Clinical @PHENOTYPICFEATURE$ ceased during six months of clomiphene citrate therapy in a 36-year-old man who had @DISEASE$, reproductive dysfunction, and a 16-year history of regular seizures.	has_symptom
+8c5e53d05f2f99c8e32c41b3463982292b2719d6	We present a case of a patient with @DISEASE$ with a @PHENOTYPICFEATURE$ due to ossicular malposition/dislocation.	has_symptom
+88db10d6122952265f9d26e480c410695e7892e8	Seven studies reported hearing loss in patients with @DISEASE$ (4 had @PHENOTYPICFEATURE$ and 3 had mixed hearing loss).	has_symptom
+28d31d660c62a2d34707476d3633be2a9ec9a062	Persistent @PHENOTYPICFEATURE$, mutilations, and acro-osteolysis in @DISEASE$ with phospholipid excretion.	has_symptom
+46733c4c32a46291ef30baeeb7093f7862d8f610	Most frequently the elevated antibody levels were detected among patients with @DISEASE$ (IgA 29.2%, IgG 35.4%, IgM 16.7%) while the most infrequent among patients with @PHENOTYPICFEATURE$ in acute phase of yersiniosis (IgA 14.9%, IgG 25.3%, IgM 19.5%).	has_symptom
+373362f55a18781f7d254869ac04b24a233889ef	After an acute onset with fever, diarrhea, and @PHENOTYPICFEATURE$, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed @DISEASE$, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	has_symptom
+4acdefb04a853a4b3c697aa847ec5e01188312f6	After an acute onset with @PHENOTYPICFEATURE$, diarrhea, and @DISEASE$, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+8d9677bb2f6807b0257041c6926cc7ead8abb466	After an acute onset with @PHENOTYPICFEATURE$, diarrhea, and abdominal pain, 22 patients developed @DISEASE$, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+af01b0cbc1d4d4f08f2cf6502ccf9f09f7d68725	After an acute onset with @PHENOTYPICFEATURE$, diarrhea, and abdominal pain, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute @DISEASE$, and nine patients developed conjunctivitis.	false
+8ccad9f643e6cf2cbbbecc1601e1a7fb1cd7d950	After an acute onset with @PHENOTYPICFEATURE$, diarrhea, and abdominal pain, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed @DISEASE$, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+2348993a210547ef0570bffd76834f9779a9cbe7	After an acute onset with @PHENOTYPICFEATURE$, @DISEASE$, and abdominal pain, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+652fcdae1063ff6928e8da1c59f31bd89046ec09	Because its complications are life threatening, when we see a patient with @PHENOTYPICFEATURE$ and eruptions, it is necessary to keep in mind the possibility of @DISEASE$.	has_symptom
+b59a3bcef6756915c810d327defd78a893982813	All patients with scrub typhus meningitis recovered completely following doxycycline therapy CONCLUSIONS: This study suggests that, clinical features, including duration of @PHENOTYPICFEATURE$, neurological deficits at presentation and laboratory parameters such as CSF pleocytosis,CSF protein elevation, CSF sugar levels and liver enzyme values are helpful in differentiating @DISEASE$ meningitis from tuberculous meningits.	has_symptom
+614979da260889b3e96cff8936ff7a43b8214cd9	All patients with @DISEASE$ meningitis recovered completely following doxycycline therapy CONCLUSIONS: This study suggests that, clinical features, including duration of @PHENOTYPICFEATURE$, neurological deficits at presentation and laboratory parameters such as CSF pleocytosis,CSF protein elevation, CSF sugar levels and liver enzyme values are helpful in differentiating scrub typhus meningitis from tuberculous meningits.	has_symptom
+779d6db81e284e5ff7c15ff23088953776756315	@PHENOTYPICFEATURE$ and nail dysplasia: a novel @DISEASE$.	has_symptom
+410347fcc617abd83a1a27015d675d8848b5b9b4	Hypotrichosis and @PHENOTYPICFEATURE$: a novel @DISEASE$.	false
+cc64014588ee7d5ec10ba95f1ff4509cb800dd04	@DISEASE$ and @PHENOTYPICFEATURE$: a novel hidrotic ectodermal dysplasia.	false
+47bf54d285782f0cba3f098fbe76e72116a3f61e	Co-morbidities were observed and included mitral-stenosis, @PHENOTYPICFEATURE$ cardio-myopathy, HIV/AIDS, Left Ventricular Hypertrophy (LVH), infective endocarditis, atrial septal aneurysm, carotid plaques with or without stenosis and @DISEASE$-homocystenemia. Mean hospital stay was 12.5 days; range 22-70 days.	has_symptom
+c0f034b45c472e15af8a53d6a8edf9be304730b4	Type 1 Gaucher disease (GD1), resulting from @DISEASE$, leads to splenomegaly, hepatomegaly, @PHENOTYPICFEATURE$, thrombocytopenia, and bone involvement.	has_symptom
+000dacdf5ed8800a705c4f0791af7cd0325f002f	We report on a @PHENOTYPICFEATURE$ boy with @DISEASE$.	has_symptom
+e7dece9392967e9944511fd10fab9b6187999fee	Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with @DISEASE$, alopecia, @PHENOTYPICFEATURE$, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition.	has_symptom
+2dd45148ec17a225a6b27a6a5032610254c4fd27	Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, @DISEASE$, and @PHENOTYPICFEATURE$ and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition.	false
+d7b4c6378c555e23cd23cc10421d5323a123cded	Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with @DISEASE$, alopecia, intellectual disability, and @PHENOTYPICFEATURE$ and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition.	false
+6420316b8de213fd6f625c7ff78ebf481b37aef7	@DISEASE$, @PHENOTYPICFEATURE$, obesity and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East.	has_symptom
+10eadd5acb5e8b7bec0cc9e7b8f760fd13dabd5d	Hypogonadotropic hypogonadism, @DISEASE$, obesity and minor @PHENOTYPICFEATURE$: another new autosomal recessive syndrome from the Middle East.	false
+58808990c0b257ae6afa8add135ef300ca9be4ca	Hypogonadotropic hypogonadism, mental retardation, @PHENOTYPICFEATURE$ and minor skeletal abnormalities: another new autosomal recessive @DISEASE$ from the Middle East.	false
+a94bc3c801fabf9d34c505ad5c00ffcb577d03aa	Hypogonadotropic hypogonadism, @DISEASE$, @PHENOTYPICFEATURE$ and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East.	false
+864d911ec69afef1b5cdb582c1278f659d16dbea	Hypogonadotropic hypogonadism, mental retardation, obesity and minor @PHENOTYPICFEATURE$: another new autosomal recessive @DISEASE$ from the Middle East.	false
+72f934cb4bec082fd21b05549136382e191649d6	@DISEASE$, mental retardation, obesity and minor @PHENOTYPICFEATURE$: another new autosomal recessive syndrome from the Middle East.	false
+231cd2efcf0106c5ee5ebcda7c4e76da475bd9e0	@DISEASE$, mental retardation, @PHENOTYPICFEATURE$ and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East.	false
+d97f54eef74895954255366e38c04cb50cd5052d	Microphthalmia or anophthalmia in a @PHENOTYPICFEATURE$ patient is associated with @DISEASE$.	has_symptom
+d87dca6d61dc72b8e8871b1b5c8ed189c117aaa3	Multiple congenital anomalies, @PHENOTYPICFEATURE$ and @DISEASE$ in a boy with small marker chromosomes.	has_symptom
+6ab53d98b0e8f5a35338cd35a2afa87b48a64791	We describe a 21-year-old male with mildly progressive ataxia, @PHENOTYPICFEATURE$, pituitary @DISEASE$, delayed dentition, and cataract.	has_symptom
+496e3fbc4760bb58f54119952febbc7a4c56d503	We describe a 21-year-old male with mildly progressive ataxia, mental retardation, @DISEASE$ hypogonadotropic hypogonadism, delayed dentition, and @PHENOTYPICFEATURE$.	false
+e4cb9e84475ac65f58a125a907779b3651ccf895	We describe a 21-year-old male with mildly progressive @DISEASE$, mental retardation, pituitary hypogonadotropic hypogonadism, delayed dentition, and @PHENOTYPICFEATURE$.	false
+94b95f1818d07fb86f1aabc152ea22ad7806cf82	We describe a 21-year-old male with mildly progressive ataxia, @DISEASE$, pituitary hypogonadotropic hypogonadism, delayed dentition, and @PHENOTYPICFEATURE$.	false
+c546033b14b303104e90366a46fd01a9c09e9b57	We describe a 21-year-old male with mildly progressive ataxia, mental retardation, pituitary @DISEASE$, delayed dentition, and @PHENOTYPICFEATURE$.	false
+e7cca652d57e8e2ca2ad83a4a5a827ce9e5cadfe	We have analyzed one patient with a syndrome of glycerol kinase deficiency (GKD), adrenal hypoplasia (AH), @PHENOTYPICFEATURE$ (MR) and @DISEASE$ (HH).	has_symptom
+aa0a1437771add1db4bba176d828d02a052f5f9d	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+2f00e5caad41f0aaba99890da02d55c259636eff	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+2c5b7003c61f3a86927222ecd450c56fd3352fd7	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+6fdbe2a5d614d7dee11b6047231fedf74a4aa3d7	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, @DISEASE$, and hypogonadotropic hypogonadism.	false
+80911c3408cdf04f03aa3ebe0b9fa7bd4f9b8c54	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and @DISEASE$.	false
+5139116b19db4bfd1f7a156909360d0dbd3cbc76	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+ee27df68ebc19dea62a459eb9f3b193d43ad10f6	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and @DISEASE$.	false
+b399df84a747ba3ff4e6486996ee4725ae52c4e5	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, @DISEASE$, and hypogonadotropic hypogonadism.	false
+76fc608039df1f95a521ff93a0c5f0e9451d80c8	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, @DISEASE$, and hypogonadotropic hypogonadism.	false
+44f1fe5403c4eb23dccaa828eb4be323dba97fc5	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+1a69964335cc54cc6d6b68d20b5ef8be4424567e	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and hypogonadotropic hypogonadism.	false
+248273943e96264ae39f015a00e912716751bb15	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+20b28b8410edf5c12b247ede38b78ce267aac301	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and @DISEASE$.	false
+10fd45f70bc3d7a76354dc4ba1a84c3c0c5d2ffb	Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, @DISEASE$, anosmia, ocular albinism, short stature and @PHENOTYPICFEATURE$.	has_symptom
+60a4720b532d50d7a3e62b3f412344908709f008	Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+41e21760ab5b518199c7400de88d64d02ea82353	Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, @DISEASE$, anosmia, ocular albinism, @PHENOTYPICFEATURE$ and mental retardation.	false
+9a7a54ca2c0f92d1f0d856ab6d92fc57951024fc	Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as @DISEASE$, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, @PHENOTYPICFEATURE$ and mental retardation.	false
+9ae1bcc7bbacd219b5d4b620f40987fcc9eff1a0	Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, @DISEASE$, ocular albinism, @PHENOTYPICFEATURE$ and mental retardation.	false
+7b3b24ca7860a78d26e8240c69c70529f2dba688	Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, @DISEASE$, hypogonadotropic hypogonadism, anosmia, ocular albinism, @PHENOTYPICFEATURE$ and mental retardation.	false
+4df77cbad2126f7b83c0f5107dd924235fe9aa38	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	has_symptom
+6f6ab8241a10facd2923fac27dec91f01f44d136	Other clinical findings in the @DISEASE$ (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+17a518dcebb4685fca1b7c53f3c476f8f26e537c	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+957d30bc33f72edf5b9b669b8417d0c251bbfd2a	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a1a8cd70c26b1073bcdf8b65f3d63b6b734c547f	@DISEASE$ associated with isolated large vestibular aqueduct and @PHENOTYPICFEATURE$.	has_symptom
+ae58306b7d877d0f38cede7a24480f4f094dbea4	Steinstrasse due to @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+ca159ba2daa3376179ee2a4d6d05aa7fbdbd5d68	Long-term follow-up in @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+97a279362b7eb47ab9231ac2219b95b4e5f73e60	Progressive @PHENOTYPICFEATURE$ in association with @DISEASE$.	has_symptom
+7df7a5f2112058720d2b4248a5de32851574f870	This is the largest family described to date with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c489f1045c2a2b8a8505eef7f07bc7db3fc0949a	Patients presented with early-onset @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+68cb58bacfdf56f01a9a1397fc7e301f04f58764	[@PHENOTYPICFEATURE$ in @DISEASE$, nephrocalcinosis and microcytic anemia].	has_symptom
+b89c386c41ad0c3d20b71f87927bdbbc46565fb2	A 5-month-old girl presented with @DISEASE$ (dRTA) and @PHENOTYPICFEATURE$.	has_symptom
+a18dcf94dd83a6540926c90d0f59be48aebcf6e8	@DISEASE$ associated with large vestibular aqueduct and @PHENOTYPICFEATURE$.	has_symptom
+8d2b298f1da7607abbc5cc016a21477c28dac249	Genetic studies in a family with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+59b4ed4051f0046fe50bd8c5bfd5d775a26a7d2b	@DISEASE$ and development of ANCA-associated renal @PHENOTYPICFEATURE$ after lengthy disease remission.	has_symptom
+ad223d116175f867cb15d8200eabc30d94c66720	@DISEASE$ (CS) is defined by the combination of hearing loss, vertigo, and ocular inflammation of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	has_symptom
+c0658a0431d8b9c17a3096f8e03d19a3aaab75cd	@DISEASE$ (CS) is defined by the combination of hearing loss, @PHENOTYPICFEATURE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel vasculitis.	false
+c63e2c510f8fa2fb9e76f5df39676fbe22e19ff0	Cogan's syndrome (CS) is defined by the combination of @DISEASE$, vertigo, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel vasculitis.	false
+9fb893bac91ff9feb5c377e32ba9ad38e64302a5	Cogan's syndrome (CS) is defined by the combination of hearing loss, @PHENOTYPICFEATURE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel @DISEASE$.	false
+0d9a3f178c8c346f4c9517c50e2f1dc32d256368	Cogan's syndrome (CS) is defined by the combination of hearing loss, vertigo, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel @DISEASE$.	false
+a608ac436b21c21bf970a49e19355643581b7627	Cogan's syndrome (CS) is defined by the combination of @DISEASE$, @PHENOTYPICFEATURE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel vasculitis.	false
+cf5daef655a42ab38f7e4ccffb9c5a8b84bb9498	@DISEASE$ (CS) is defined by the combination of hearing loss, vertigo, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel vasculitis.	false
+21c3f2bcb9865a4b3d6084dab4ca2165dd55302e	This article reviews the recent literature about @PHENOTYPICFEATURE$ of the ear or the cochleovestibular system, focusing on giant-cell arteritis, Takayasu's arteritis, polyarteritis nodosa, Kawasaki disease, microscopic polyangiitis, granulomatosis with polyangiitis (GPA), eosinophilic GPA, systemic lupus erythematosus, @DISEASE$ and Beh?et's disease.	has_symptom
+dc870f0688004f056e3b45a40182bc4155b625a3	@DISEASE$ consists of a triad of ophthalmoplegia, @PHENOTYPICFEATURE$, and altered mental status.	has_symptom
+321de47f555acd6848d7b47178367fc7ee9d535b	Increased cerebellar PET glucose metabolism corresponds to @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+6845c731da1eebfb4d6ee54498edeaf1e6eee22f	@DISEASE$ is a medical emergency characterized by a triad of ophthalmoplegia, @PHENOTYPICFEATURE$, and impaired mental status.	has_symptom
+073a23be7cfd6fcf694e98965bbb87cfd856b495	[The @DISEASE$ and @PHENOTYPICFEATURE$ in alcoholics].	has_symptom
+1b0b6fd9dadf20cdc960fb6c192833130589d42f	Memory loss and @PHENOTYPICFEATURE$ after hyperemesis gravidarum: a case of @DISEASE$.	has_symptom
+e43fa0064e205f506636704551d1608fd52f24eb	Visual evoked responses (VERs) were recorded on 52 chronic alcoholics patients without @DISEASE$, 22 of whom had @PHENOTYPICFEATURE$, and eight chronic alcoholics with Wernicke-Korsakoff syndrome.	has_symptom
+6d61cb00f238d9f0d868bdc6d1246768d8f49ec9	Visual evoked responses (VERs) were recorded on 52 chronic alcoholics patients without Wernicke-Korsakoff syndrome, 22 of whom had @PHENOTYPICFEATURE$, and eight chronic alcoholics with @DISEASE$.	has_symptom
+5e45eec4a4c4821b7d205ee1bc708843d1388d79	@PHENOTYPICFEATURE$ is a common presenting sign in the @DISEASE$ (WKS).	has_symptom
+d00bd41f84e1db6d9e115fc469e66101356630cc	This progressed to typical @DISEASE$ with @PHENOTYPICFEATURE$ and memory and cognitive defects.	has_symptom
+780d6266234c7b2f34d4c5a577d1f5f9d2207866	Abnormal BAERs were found in 48% of patients with @DISEASE$, in 25% of alcoholic patients without Wernicke-Korsakoff syndrome but with cerebellar ataxia, and in 13% of alcoholic patients without Wernicke-Korsakoff syndrome or @PHENOTYPICFEATURE$.	has_symptom
+030c50fb3668f4b9cf5d35ec80f8d48a8dc7839c	Abnormal BAERs were found in 48% of patients with Wernicke-Korsakoff syndrome, in 25% of alcoholic patients without @DISEASE$ but with @PHENOTYPICFEATURE$, and in 13% of alcoholic patients without Wernicke-Korsakoff syndrome or ataxia.	has_symptom
+5bd991858d2694ec5a700209e956214291da2e35	Abnormal BAERs were found in 48% of patients with Wernicke-Korsakoff syndrome, in 25% of alcoholic patients without Wernicke-Korsakoff syndrome but with @PHENOTYPICFEATURE$, and in 13% of alcoholic patients without @DISEASE$ or ataxia.	has_symptom
+4e1844dae89d605d820fd89edd1840b43b57f956	Abnormal BAERs were found in 48% of patients with Wernicke-Korsakoff syndrome, in 25% of alcoholic patients without Wernicke-Korsakoff syndrome but with cerebellar ataxia, and in 13% of alcoholic patients without @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+a4339da38182161c2631514694eea34c927dfca0	Abnormal BAERs were found in 48% of patients with Wernicke-Korsakoff syndrome, in 25% of alcoholic patients without @DISEASE$ but with cerebellar ataxia, and in 13% of alcoholic patients without Wernicke-Korsakoff syndrome or @PHENOTYPICFEATURE$.	has_symptom
+bbd0071a602c398bbc58a83949d1699040f5e8dd	Abnormal BAERs were found in 48% of patients with @DISEASE$, in 25% of alcoholic patients without Wernicke-Korsakoff syndrome but with @PHENOTYPICFEATURE$, and in 13% of alcoholic patients without Wernicke-Korsakoff syndrome or ataxia.	has_symptom
+66d2a94f6c39b67e757254ecf1bc7375410ae0e8	Cerebellar volume decline in normal aging, alcoholism, and @DISEASE$: relation to @PHENOTYPICFEATURE$.	has_symptom
+51b2a4d649a30769aa39a762bdd448a634d39156	The cases of identical twins with @DISEASE$, early @PHENOTYPICFEATURE$ and progressive spasticity are reported.	has_symptom
+7f8fda8407a73e1421524ae2740db48a9fd4ba83	Similar trends were observed in samples from control individuals as well as patients suffering of Alzheimer's disease (AD), mild @PHENOTYPICFEATURE$ (MCI) or @DISEASE$ (AT).	has_symptom
+7e47bfa1748e20117a27b754f2e4ac8b5e3f3913	In the so-called "@DISEASE$ are associated the following malformations: coloboma iridis, @PHENOTYPICFEATURE$, pre-auricular fistullae with an extra 47th chromosome of the G group type.	has_symptom
+432b4c1568a94e34b80bb5ecbf85f3898cbd2c05	@PHENOTYPICFEATURE$ and colobomata are mainly seen in @DISEASE$, the phenotype associated with idic 22q11.	has_symptom
+31121b323bce05718828e7affe9bed5047d6aa27	Cat-Eye syndrome (@DISEASE$), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and @PHENOTYPICFEATURE$.	has_symptom
+12669a3e1fe246f920f9c4c184ad47788ae12df6	@DISEASE$ is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising @PHENOTYPICFEATURE$, coloboma of the iris and preauricular tags or pits.	has_symptom
+b211432ff7e9aa94d5961ec909c4f2a2c0170f9b	However, ocular coloboma and @PHENOTYPICFEATURE$, major characteristic features of @DISEASE$, were negative.	has_symptom
+52d74cf838928a2fb51cdeadb0659c694f8a70b7	Cat-Eye syndrome (@DISEASE$) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and @PHENOTYPICFEATURE$ are the best known.	has_symptom
+abc3b21b1d0eb1874fe5653b215619326a42be5c	@DISEASE$ (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and @PHENOTYPICFEATURE$ are the best known.	has_symptom
+364d875a6361929c7ff028892a6c4c18e8750176	The @DISEASE$ is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	has_symptom
+473af8cb805a27d059f9f29b0115f324ab4769c7	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+8a32aefcb023f889adbe968f0a62348aaeedeb64	The cat eye syndrome is a congenital malformation usually associated with @DISEASE$, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+9de7618f0c9c0b2ba3632be1fe598b64dbc4f0ee	The cat eye syndrome is a congenital malformation usually associated with @DISEASE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+01cea8886f33f4255cc5c2d330f24a05bb5a34fd	The cat eye syndrome is a congenital malformation usually associated with @DISEASE$, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+d495648157b1d042dd65839f3f808802be11696a	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+9faa4f2f07107bd23e6b8d3e48716e22b8a4470d	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+7969ffd1600462019242c50caeee984c3ddcfee7	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+998e2fde2ebd5f9e310d188d770a13005852338f	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+7aede71a3b23149291bd0d4840b0caa11ef1ae2d	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+fca082abac667ffacc8705f98a2d343606d593dd	The cat eye syndrome is a congenital malformation usually associated with @DISEASE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+1ed2f77dad94f2e8aac394792a6321a12f552428	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+513955d91483b6a6e5f0eb92bedcd8424d4a3663	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+c3816ecfb05c41cf827dcf5a3baf6a6d17ec9e68	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+c8ae5acf6e553e8c801249c875a0ae304daf35d5	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+013ef1d4e3696c8fa8a5ccd9bacc048f9470407a	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+206acbcbc077ed8e82708c90d5da69e7e6e023c2	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+af7e07bde18a901a42764fe7c033f8f3b789fe61	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @PHENOTYPICFEATURE$, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation.	has_symptom
+39ee6c8480bd29c090790a6ac1da5815d2e17b17	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @PHENOTYPICFEATURE$, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation.	has_symptom
+877695649f743dcc8a4972439d2e89f12e313346	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, @PHENOTYPICFEATURE$, urinary tracts anomalies, and mental and physical retardation.	false
+0facc28df7e4023c09ba105c33e338d048b021c3	The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @DISEASE$, ocular coloboma, preauricular tags or sinuses, @PHENOTYPICFEATURE$, urinary tracts anomalies, and mental and physical retardation.	false
+b2c89724132f07667f0ccf4a3e042b4f31cccf3e	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+9627cb1d9c140168120e1f475cb26ed6c1c1130d	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, @PHENOTYPICFEATURE$, urinary tracts anomalies, and mental and physical retardation.	false
+1b9a3aae65ea835b26b750cfcf1ba9ab2e512e69	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+68993198a37199cd67fc0e2eda87d437bc5463e6	The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @DISEASE$, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+8cb48cc28d06e99fc8c51db7674ff5aaca1b66c1	Individuals with @DISEASE$ are characterized by the presence of preauricular pits and/or tags, @PHENOTYPICFEATURE$, and iris coloboma.	has_symptom
+c0b03e1a7b8e6a0e2e5c927dd319a3309aadd33e	Three patients had chronic respiratory disorders: a 42-year-old man with @DISEASE$ was tired, had headaches, poor pulmonary function values and, according to the arterial blood gas values, hypercapnia; a man aged 24 with Duchenne's muscular dystrophy had variable moderate @PHENOTYPICFEATURE$ with hypoxia and hypercapnia, and a man aged 64 years with an mitochondrial myopathy complained of dyspnoea and headache but had good blood gas values.	has_symptom
+3c8aa29e64fc2d9f3d105799899a2422e6e32c9b	The autosomal dominant @DISEASE$ (RS) manifests @PHENOTYPICFEATURE$, adontia, iridogoniodysgenesis and umbilical anomalies.	has_symptom
+a54c02099b5f24f3745bf1d3fbbd78377ed12b20	We report the case of a 61-year-old male patient with @DISEASE$, who presented with @PHENOTYPICFEATURE$, tachycardia and hypoxemia after endoscopic obliteration with N-butyl-2-cyanoacrylate. Radiographic findings were consistent with pulmonary embolism of the sclerosing substance.	has_symptom
+f0f8b10e9876ee13eb9bb9bdd4d9c1a904de6371	@PHENOTYPICFEATURE$ was significantly present in male population (p = 0.04), whereas fibromyalgia, @DISEASE$, arthritis, and autoimmune hemolytic anemia were significantly present in female population under study (p < 0.05).	has_symptom
+aae5457f0fbb62b5b41d3650d7b7a46b8c1c3a37	BCOADC-E2 subunit, a mitochondrial protein, has been known to be the autoantigen of @DISEASE$ (PBC), a chronic autoimmune liver disease, as well as idiopathic dilated cardiomypathy (IDCM), a chronic @PHENOTYPICFEATURE$ heart disease.	has_symptom
+b28ebfd7b9e7daaef497ac8048586946831d910a	Humoral @PHENOTYPICFEATURE$ response heterogeneity in the spectrum of @DISEASE$.	has_symptom
+34e54799a3a4a30f22f762057a54c61f0843c655	@PHENOTYPICFEATURE$ predicts hypogonadotropic hypogonadism in @DISEASE$.	has_symptom
+da638909696a67486905a7797f33d8229e0d2d46	Anosmia predicts @PHENOTYPICFEATURE$ in @DISEASE$.	false
+faceb43ef3eefff0dd8d688132c7cea6ecf28313	@DISEASE$ predicts @PHENOTYPICFEATURE$ in CHARGE syndrome.	false
+3af84ac3bd3e36a2269415744e8dfc452f9219be	Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia, two features that are also frequently present in @DISEASE$.	has_symptom
+ca301d46bce83c21d64c6d34138ca7eb83a7364b	Kallmann syndrome (KS) is the combination of @PHENOTYPICFEATURE$ and anosmia or hyposmia, two features that are also frequently present in @DISEASE$.	false
+f24ed2ee3ad393ceb2170a9cfcea66d95acbba6f	@DISEASE$ (KS) is the combination of @PHENOTYPICFEATURE$ and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome.	false
+ca97043726523a4ce2d2ea1120e5fd6f83a14d46	Kallmann syndrome (KS) is the combination of @PHENOTYPICFEATURE$ and @DISEASE$ or hyposmia, two features that are also frequently present in CHARGE syndrome.	false
+d402f3511da3c13bcde71e1653887cbd1e8938d2	Over an 18-month period, 193 patients were evaluated with WCE for suspected SB diseases [108 obscure gastrointestinal (GI) bleeding, 32 chronic diarrhea, 22 suspected and 6 diagnosed Crohn's disease, 16 @PHENOTYPICFEATURE$, 4 refractory celiac disease, 3 polyposis syndromes, 1 Rendu-Osler-Weber disease and 1 @DISEASE$].	has_symptom
+dd50c044f8dabe49bee2d9323bc64a187ec2e962	FMF should be considered in a patient with @DISEASE$ who is suffering from attacks of fever, arthralgia and @PHENOTYPICFEATURE$.	has_symptom
+cffbb4864b1b2961782e2806ac2097c5e33f00c1	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, @PHENOTYPICFEATURE$, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	has_symptom
+3b6e2a944c2df80c3ed10e853324db7e1c97376c	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @PHENOTYPICFEATURE$, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+f5b78c43da5d3a38396f0a01129e36d1a062413f	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+1f8344a31df04dd513d44239bca43e2b8ee3f66d	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, @PHENOTYPICFEATURE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+1176622d6502f0048ffaeb5574c8d24237fd1098	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, @DISEASE$, seizures, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+2344128604fac28092e0670f3bd212e37b34df6e	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+e66ed9ea1b26caaa6bb744e5de1764fcf1f7c2cd	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @PHENOTYPICFEATURE$, @DISEASE$, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+d3fedd3a4efedc348b6a06ecced79c847c9ebff2	@DISEASE$ as a risk factor for cataract development: five-year follow-up of @PHENOTYPICFEATURE$ in exfoliation syndrome.	has_symptom
+feb302afa65cfd7664ab11e601b61cf6a468adc4	@DISEASE$ as a risk factor for @PHENOTYPICFEATURE$ development: five-year follow-up of lens opacities in exfoliation syndrome.	has_symptom
+d59b9ec54a122ad13e2ae5d0dd18878ae49b9bbe	Exfoliation syndrome as a risk factor for @PHENOTYPICFEATURE$ development: five-year follow-up of lens opacities in @DISEASE$.	has_symptom
+cdf192d5f443bce6e5e437a3da9e36faa1d847d8	Exfoliation syndrome as a risk factor for cataract development: five-year follow-up of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+4f1d2f7965eb5d5a1d9cc0cefda305d91182f9b6	[@DISEASE$ and @PHENOTYPICFEATURE$ surgery].	has_symptom
+c319503a73a6f2caae5b9178d6df90266c43e105	[@DISEASE$ and @PHENOTYPICFEATURE$ surgery.	has_symptom
+6114132a604b4e4f9b59321f17fd41e714cb1164	[@DISEASE$ in @PHENOTYPICFEATURE$ surgery.	has_symptom
+d936c49763493a3f0c255a10733976b65971aac1	@DISEASE$ and @PHENOTYPICFEATURE$ extraction.	has_symptom
+d936c49763493a3f0c255a10733976b65971aac1	@DISEASE$ and @PHENOTYPICFEATURE$ extraction.	has_symptom
+cd05d53beb79598bf742209ee5c07ee97f78f738	@DISEASE$ after @PHENOTYPICFEATURE$ extraction.	has_symptom
+70834f8b1d3118c3d88e8f854662d7b70224a8c0	@DISEASE$ and @PHENOTYPICFEATURE$ surgery.	has_symptom
+70834f8b1d3118c3d88e8f854662d7b70224a8c0	@DISEASE$ and @PHENOTYPICFEATURE$ surgery.	has_symptom
+1cf4bac82bd9430df91d373b74416496b3c1d85e	@DISEASE$ and secondary @PHENOTYPICFEATURE$.	has_symptom
+642faed486f49e276a3b338acc1bdc634a4a164f	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @PHENOTYPICFEATURE$, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	has_symptom
+ef8ac9861c32b10d6fb7687e1b6f8419ea5d9562	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+def888fe0e93ee86d89995efc11ff2e5ae30199d	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+5a085c1dbedb3177d59d1951dc38516d83e685ea	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+54559d27902c0ceed46de4dbfd070d8ff0cc4814	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+851287c8fcf0e612736df72a9fc9c4047632d370	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+18bf18adb5a46a3747e2c219fd6119dab2633f5c	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, @DISEASE$, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+62ca21d2a91c60f4ddf5f5eb33045a7992a69180	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, @DISEASE$, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+d191ccb0d8a10fb34553d1cd2c499a984cdc1843	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+36377fe3917a8b1a35a0f38dc4ac0bd91f0afc21	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+b6a6287ba1dedf159edb759d7ae8dedf8a552311	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+0b705ddfe3f23b261d4e35e517e4562592022969	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+dcdfda041eceae9391b0d472d55fd5fadd4cc484	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, @DISEASE$, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+06e2bf024ebc2f5f25b527b855f3f2a1ccc3f077	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+c276b6c72abd7d8a7253de4066690ef9976d6747	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+03f6dec81599bfd5055ccc5c47ec9fccbc3d0b52	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+4169802a69bcd8ed3a96350c181d733855d2cf33	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+2531f3fa7ad2e8bc8c29b2bc9b71ac7910ee45bb	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+c842182806cafaf8f7e5545c6879dcc26d84a208	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+11a0ae27611b5d0b683f42966a2526cabb32af65	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+231e98eaade46dfa0568f0dab44682210d358f57	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+133e2f184b1f282393dae67c9a5433574798ff32	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	has_symptom
+5c4a05717d2264ed848379921688316b4a5359b8	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) @DISEASE$ (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+e64e87c6285443a507943b408b418df70e2ff4e0	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or @DISEASE$.	false
+458952fdc0b783951c63caec7b931a93686f2e24	Hay-Wells syndrome, also known as ankyloblepharon-@DISEASE$-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+6a06d2f3c76ea54bc2ffa8e9b8bac241aa005bd5	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital @DISEASE$, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+0e49c9040644cbe8959b3309bc393215f12b8a07	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+77459b98073b60aa4789f045e74570ab926ea142	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+3f140b16b9ca92ac5164398828b7e12ec3e04c41	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and @DISEASE$ and/or cleft palate.	false
+ee6b41ab319438a9193b6209a072b881e551b12d	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital @DISEASE$, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+c10fc0383b287bbdc9deaedcaed3172a8e9d8eb9	Hay-Wells syndrome, also known as ankyloblepharon-@DISEASE$-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+dc2609935ac99eb9fa6ed3b3f597ae2ff8d4ee35	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp @DISEASE$, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+69d750ad81bf7094247695e6949b80f6ca80a58c	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and @DISEASE$ and/or cleft palate.	false
+6b8f00bc8e6218e5692556bb412b4700d6090291	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp @DISEASE$, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+26de64b3e3a7a04dad7eb9aba3ee02adc67bb785	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or @DISEASE$.	false
+7a0b7b77422714d95aa5bb989afec99c9cd5d8bc	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) @DISEASE$ (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+58f7fd5b9de24325c5f0d5fa85acdd59896a9084	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, @PHENOTYPICFEATURE$, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay.	has_symptom
+a5f2f053959a617587acddb37b1e5cb12f443088	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional @DISEASE$, and growth delay.	false
+23e7bab3a55662e48363d164a0073b75c3ed9674	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, @PHENOTYPICFEATURE$, additional @DISEASE$, and growth delay.	false
+52ed80b9949c5ab3d3ede600037e1599379d23f7	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, @PHENOTYPICFEATURE$, additional hypogammaglobulinemia, and growth delay.	false
+94356fddbe6ee0a98775f81cbfff3ec2fd111734	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including @PHENOTYPICFEATURE$, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+417259cc75ddc91402f89abf7831b172833a03bc	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, @DISEASE$, @PHENOTYPICFEATURE$, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+bb8806eb916646fe6ce2131ff85540c907b82805	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including @PHENOTYPICFEATURE$, ED, @DISEASE$, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+13240ddfef62bca98e4147dc3d1dae46b64e912f	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, @DISEASE$, ectrodactyly, @PHENOTYPICFEATURE$, additional hypogammaglobulinemia, and growth delay.	false
+7ca5e73529b52dfcfddd73f914cfb89346077710	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+a62b5bc3c0622c171cb327cbdc5281a4b989131b	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including @PHENOTYPICFEATURE$, ED, cleft palate, ectrodactyly, syndactyly, additional @DISEASE$, and growth delay.	false
+eb190cc6ff1bfd34e6009e29d2d62c1b99544b06	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by @PHENOTYPICFEATURE$ and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for @DISEASE$ (p63(+/L514F) ) that recapitulates the human disorder.	has_symptom
+5286b72e5aeec207bc3f10d12589ce3388a32868	@DISEASE$ is an autosomal dominant condition characterized by ankyloblepharon filiforme adnatum, ectodermal dysplasia, and @PHENOTYPICFEATURE$ with or without associated cleft lip (AEC syndrome).	has_symptom
+0e21ad8364a1ec742a7bfc0fc5d9f40d0c375b9a	Hay-Wells syndrome is an autosomal dominant condition characterized by ankyloblepharon filiforme adnatum, ectodermal dysplasia, and @PHENOTYPICFEATURE$ with or without associated cleft lip (@DISEASE$).	has_symptom
+e87e33887419e20df3d590f0f0bc419185000d22	Other ectodermal dysplasias can be complicated by hair loss with superinfection, such as @DISEASE$ (ankyloblepharon, ectodermal dysplasia, @PHENOTYPICFEATURE$).	has_symptom
+3a35a654fd38176672b4964b313e3afdfa8366b6	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of @DISEASE$, an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, ankyloblepharon and ectodermal dysplasia associated with severe skin erosions, bleeding and infections.	has_symptom
+15144db6f1500fd30808a1e4c0e897ca0a7b665b	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of AEC syndrome, an autosomal dominant disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ and ectodermal dysplasia associated with severe skin erosions, bleeding and infections.	false
+7d2cd023f670bc404d08b9805a15b015387ef271	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of AEC syndrome, an autosomal dominant disorder characterized by cleft palate, @PHENOTYPICFEATURE$ and @DISEASE$ associated with severe skin erosions, bleeding and infections.	false
+5d7685353da8803b0e336fde9013ea7025293284	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of @DISEASE$, an autosomal dominant disorder characterized by cleft palate, @PHENOTYPICFEATURE$ and ectodermal dysplasia associated with severe skin erosions, bleeding and infections.	false
+8ed97ac2e1526205f625b2411ac3c71b1d507432	@DISEASE$ is the rare association of ectodermal dysplasia, @PHENOTYPICFEATURE$, and macular dystrophy.	has_symptom
+0c469226404cf0473719029a67f0e0437d19fc38	Distinct CDH3 mutations cause ectodermal dysplasia, @PHENOTYPICFEATURE$, macular dystrophy (@DISEASE$).	has_symptom
+9a1be11e3876d4fd8fc58c409748d3ed745cbc57	Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two inherited diseases in humans: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, @PHENOTYPICFEATURE$, macular dystrophy (@DISEASE$).	has_symptom
+5a148c2a126cc2b8910dea220c290efef46c2390	Ectodermal dysplasia, @PHENOTYPICFEATURE$ and macular dystrophy (@DISEASE$) in siblings.	has_symptom
+1f70eb73d178a5d65db6751f29f42cb76689fcd5	We report a brother and sister with ectodermal dysplasia, @PHENOTYPICFEATURE$, and macular dystrophy (the @DISEASE$).	has_symptom
+1f52c3ac13ed6b704f4463bec6668f8aa7e474a0	Association of ectodermal dysplasia, @PHENOTYPICFEATURE$ and macular dystrophy: @DISEASE$ (case report).	has_symptom
+5f21642cd5794e6aed67c1a9769cdcec6040c055	@DISEASE$ is a rare condition characterised by ectodermal dysplasia, @PHENOTYPICFEATURE$ and macular dystrophy.	has_symptom
+0eab051fc00a777ab9a20ae921f0f81f348a4c50	Association of ectodermal dysplasia, @PHENOTYPICFEATURE$, and macular dystrophy: the @DISEASE$.	has_symptom
+aac5d2baa91adadfbf2e56c738cbe15561c6eb47	@DISEASE$ (TSC) is an incurable multisystem disease characterized by mTORC1-@PHENOTYPICFEATURE$ tumors.	has_symptom
+9997d0d06c2feb11909f582efe0c90c9823a8ad0	Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-@DISEASE$ @PHENOTYPICFEATURE$.	false
+ddb5d5b47df0b115182ee54af61628523523d499	@DISEASE$ (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive @PHENOTYPICFEATURE$.	false
+5eac374de6bd90285a555dbb915176a559abfbad	@DISEASE$ (HJMD) is a rare autosomal recessive disorder characterized by sparse hair on the scalp and early @PHENOTYPICFEATURE$.	has_symptom
+192077c665858e8dcf0d2c06589a5d034a435d77	Hypotrichosis with juvenile macular dystrophy (@DISEASE$) is a rare autosomal recessive disorder characterized by sparse hair on the scalp and early @PHENOTYPICFEATURE$.	has_symptom
+8b77a9c92754f02ac82cf21f25b388dcc176bd31	Congenital hypotrichosis associated with juvenile macular dystrophy (@DISEASE$; MIM601553) is an autosomal recessive disorder of unknown etiology, characterized by hair loss heralding progressive macular degeneration and early @PHENOTYPICFEATURE$.	has_symptom
+10799c3a5428c9c20b081d536b23e846dd509922	The @DISEASE$ is characterized by congenital sparse hair on scalp and progressive severe degenerative changes of the retinal macula which leads to variable degrees of @PHENOTYPICFEATURE$.	has_symptom
+ebb8ede5fabcb418445027eb6c0e485e07fb77c0	Symphalangism and @PHENOTYPICFEATURE$: report of the WL @DISEASE$: review of literature and classification.	has_symptom
+ffb2ef9bc6bf930a857e723ee6cf15676ee21a1e	A case of @DISEASE$ involving @PHENOTYPICFEATURE$ inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.	has_symptom
+d57b087b44e701ca46a7cc699bf2ff65305912fe	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, @PHENOTYPICFEATURE$, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	has_symptom
+14ff6ce146a4eee1dc8caca048e43b1fd2432800	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+82ef612a65a1b3c718738ad062a680f4f82ed9bd	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, @DISEASE$, @PHENOTYPICFEATURE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+74ab05d3f764dec81582c7327172c9955bcd19ad	The Simpson-Golabi-Behmel syndrome (SGBS) is an @PHENOTYPICFEATURE$ condition characterised by macrosomia, @DISEASE$, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+0e05501ed4c173e02afc28b282c1c75e8f1b7d97	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, @DISEASE$, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+ed334f708bb5933e1f6b5318779f0e246484a1a3	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, @PHENOTYPICFEATURE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+d575c63414bb87597c11b7f09d4ccdf8149bfce0	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, @DISEASE$, large head, prominent skull sutures, midface deficiency, @PHENOTYPICFEATURE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+5b73fccd73f1d06929c5380b19b50cee33a28f79	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, @PHENOTYPICFEATURE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+3034f08e66ec8cd873fdd297d8cbe93839ff2f93	The @DISEASE$ (SGBS) is an @PHENOTYPICFEATURE$ condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+c1e3d962cfe273d340020b95cbe6102d2de5d217	@DISEASE$ is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, @PHENOTYPICFEATURE$, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly.	has_symptom
+686df91bff910e072d31bddefc855f9bc5f9cb38	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, @DISEASE$, pre/postnatal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, and organomegaly.	false
+57583546aef7475a07e798329125100278a94e18	@DISEASE$ is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, and organomegaly.	false
+3fb56094b97f43380e87cc10b819674b7435d18f	Simpson-Golabi-Behmel syndrome is a rare @DISEASE$ caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, and organomegaly.	false
+280e35b00f73fccf355bb8e7986df108ee1df06b	Simpson-Golabi-Behmel syndrome is a rare @DISEASE$ caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+015e824e6c653bfc0b7e1f4ef999b2d1dd0ccb2a	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple @DISEASE$, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, and organomegaly.	false
+05d104a0a5492dd69dc9eb5e3257c01ffeccc947	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple @DISEASE$, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+41986bdcca8becb0dd6692efb9c215395af965ba	@DISEASE$ is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+6ed89e5b56a17694b330ddacded9cae3e5f42d73	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, @DISEASE$, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+e2d691bf069690ed18621edb67fdc83f816f972f	@DISEASE$ (SGBS) is a rare X-linked multiple congenital abnormality/@PHENOTYPICFEATURE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	has_symptom
+053ab8822a9ce72bc0b03b78bf2118a17bb5b21d	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple @DISEASE$/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+7ccbc8ca8bd23fa16fba51ff4d5004ad28d8fe00	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, variable @DISEASE$, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+e128d4b1ab22e475f8d73724bab1664eeea9d9c8	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable @DISEASE$, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+179a28c97e34f0425cdafb721c42517fcae5b483	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability @DISEASE$ characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+be2e1535b49fa29b9f7812cbf0c93c3a0ac04f79	@DISEASE$ (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+d0723b72d3b66a13228a7c946935c0b2ce0c226c	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple @DISEASE$/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+b18f1ed70857de2959a89823e283175b0a812ab9	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability @DISEASE$ characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+6bc4624b98a1185e86e655622b1d2248203151c1	@DISEASE$ (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+c35c9fe5caf9b8ce45c46053353e8d7d08a70522	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/@DISEASE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+d512ac1a3f75b70bb91fa5da463855faa541dd92	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/@DISEASE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+6e88d785e4b24eeab9d08205a3a1686a2a87be0c	@DISEASE$ (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features @PHENOTYPICFEATURE$ (ID) of variable degree, and an increased risk for embryonal tumors.	has_symptom
+894c1477b337c5854fbfd199f2380899e232da36	Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features @DISEASE$ (ID) of variable degree, and an increased risk for embryonal tumors.	false
+540de61252bae7870ba448685f77d60b386d28c5	Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for @DISEASE$.	false
+6c667614565ab5fb7c8cf835aeca18b24e2de250	@DISEASE$ (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors.	false
+462495bf5e4896ee66a337a7afb822d349b71dab	Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple @DISEASE$, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors.	false
+49ecced78cec773196da35a1e15507cb65dc84e7	@DISEASE$ (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and @PHENOTYPICFEATURE$.	has_symptom
+2116827c890a3810a1834236c12a63f14a97dcef	@DISEASE$ (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal @PHENOTYPICFEATURE$, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation.	false
+a359a73180d662b37ec2d1faeb2eb85247fa0e26	Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal @PHENOTYPICFEATURE$, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and @DISEASE$.	false
+24ef9ffeed0dfc47894bb07c357246984194a498	Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal @PHENOTYPICFEATURE$, "coarse" face, minor @DISEASE$ anomalies and, in more severe cases, multiple congenital anomalies and mental retardation.	false
+a697edba0cd11b201ad0a34082b132dad5c3cb70	Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal @PHENOTYPICFEATURE$, "coarse" face, minor facial anomalies and, in more severe cases, multiple @DISEASE$ and mental retardation.	false
+19a63044365ede156f38e95d1a209ce7e2168de3	His molecular genetic testing has substantiated the clinical diagnosis of Simpson-Golabi-Behmel syndrome; however, he is unique in that he has @PHENOTYPICFEATURE$, hydrocephalus, and epilepsy, which have not been previously documented in @DISEASE$ in the literature.	has_symptom
+a48b63f89935a4fbf87fffa8895a240f916bc4c6	His molecular genetic testing has substantiated the clinical diagnosis of @DISEASE$; however, he is unique in that he has @PHENOTYPICFEATURE$, hydrocephalus, and epilepsy, which have not been previously documented in Simpson-Golabi-Behmel syndrome in the literature.	has_symptom
+ef4029f849b7c2922b4ab7480071057e1afd184c	His molecular genetic testing has substantiated the clinical diagnosis of Simpson-Golabi-Behmel syndrome; however, he is unique in that he has @DISEASE$, @PHENOTYPICFEATURE$, and epilepsy, which have not been previously documented in Simpson-Golabi-Behmel syndrome in the literature.	false
+cfb1473b1c9e2ebc4cb27d8183a9af3bd05dfee4	His molecular genetic testing has substantiated the clinical diagnosis of @DISEASE$; however, he is unique in that he has mental retardation, @PHENOTYPICFEATURE$, and epilepsy, which have not been previously documented in Simpson-Golabi-Behmel syndrome in the literature.	false
+847d82e42db29f688838e7e8687869bc685734cb	His molecular genetic testing has substantiated the clinical diagnosis of Simpson-Golabi-Behmel syndrome; however, he is unique in that he has mental retardation, @PHENOTYPICFEATURE$, and epilepsy, which have not been previously documented in @DISEASE$ in the literature.	false
+bbc4b0a4bce2a17f66a5e6b39fcec275d783fe47	Ten patients had other medical conditions including @PHENOTYPICFEATURE$, seizures, developmental delay, autism, congenital anomalies, @DISEASE$, or a family history of multiple lipomas.	has_symptom
+8fa100745ba9fb6aff014de3ae63f8733043678c	Ten patients had other medical conditions including @DISEASE$, seizures, developmental delay, @PHENOTYPICFEATURE$, congenital anomalies, Sturge-Weber syndrome, or a family history of multiple lipomas.	false
+e78865da2ae6bd97664992e061abd0feb5e9c097	Ten patients had other medical conditions including macrocephaly, seizures, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, Sturge-Weber syndrome, or a family history of multiple lipomas.	false
+6ad9b8a42b4c4cbd04fe120a344c2e7ffdaf8faf	Ten patients had other medical conditions including macrocephaly, @PHENOTYPICFEATURE$, developmental delay, autism, @DISEASE$, Sturge-Weber syndrome, or a family history of multiple lipomas.	false
+ace51f5256899cbbd119a4612862c3447a0c4024	Ten patients had other medical conditions including @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, autism, congenital anomalies, Sturge-Weber syndrome, or a family history of multiple lipomas.	false
+76f922165b906034bcba675d0dc0a2e14f0742c5	Ten patients had other medical conditions including macrocephaly, @PHENOTYPICFEATURE$, developmental delay, autism, congenital anomalies, @DISEASE$, or a family history of multiple lipomas.	false
+889b43e111097248e3c94b0f32858e139ef5855e	Ten patients had other medical conditions including macrocephaly, seizures, developmental delay, @PHENOTYPICFEATURE$, congenital anomalies, @DISEASE$, or a family history of multiple lipomas.	false
+9b75dd7cf9d783963152ec097c3cb31688809f43	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced @PHENOTYPICFEATURE$ (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous albinism (2), tuberous sclerosis complex (2), pigmentary mosaicism (1), and @DISEASE$ (1).	has_symptom
+eb37adda69e6987c6fcf94f03616de7c60566115	Others were hypomelanosis of Ito (5), post-inflammatory @PHENOTYPICFEATURE$ (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous albinism (2), tuberous sclerosis complex (2), pigmentary mosaicism (1), and @DISEASE$ (1).	has_symptom
+b258852e13bfc455e4c07a2e49cb41fb787df993	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced @DISEASE$ (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous @PHENOTYPICFEATURE$ (2), tuberous sclerosis complex (2), pigmentary mosaicism (1), and Griscelli syndrome (1).	false
+c1ff4a45cb680397f365805767b97cdc9b7fd64b	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous @PHENOTYPICFEATURE$ (2), tuberous sclerosis complex (2), pigmentary mosaicism (1), and @DISEASE$ (1).	false
+5d70ec1e83c644fe8efc5627ea64554ffab812d1	Others were hypomelanosis of Ito (5), post-inflammatory @DISEASE$ (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous @PHENOTYPICFEATURE$ (2), tuberous sclerosis complex (2), pigmentary mosaicism (1), and Griscelli syndrome (1).	false
+eb6392d1e9474b484db72130e7709420c3b8a6b1	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous @PHENOTYPICFEATURE$ (2), @DISEASE$ (2), pigmentary mosaicism (1), and Griscelli syndrome (1).	false
+7617f3c54c2c4d23f89d3dfd266661d51dbec2f2	@DISEASE$ is an autosomal recessive disease that is characterized by @PHENOTYPICFEATURE$ and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome.	has_symptom
+d257f4b649ea36dc06b1d07484c6ac73f1d18268	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (@DISEASE$ and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	has_symptom
+e34dd16bc2c4d20e070c8539321d17b6b4d444cb	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (@DISEASE$), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	has_symptom
+893770c3bb3793491f1113e99a594a07d867fd49	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (@DISEASE$ and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+7402d4af77360c8e46ae029b5b5a3fff6984e322	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (@DISEASE$, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+948ab229a8bc94bef20e0714e3eb46ba880d53e6	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (@DISEASE$), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+e2c49b8b16b9aa3ebfd862fc9eb081e9d5889691	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, @DISEASE$ and Martsolf syndrome).	false
+47dcc20baa6975076466bc115951cabd7d52050c	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @DISEASE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+4c7b60441d7e67c98d2a6cdee5ffdebf93c9c05f	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and @DISEASE$), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+5806c83d58fd58120f2cb69d82667fabdb906696	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and @DISEASE$) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+9fcfa24992fb44d75c861be03dc14bc2d0ebc004	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and @DISEASE$).	false
+4cae80ebaea9adb83aa6f9a53b37e28f19b58ff4	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, @DISEASE$ and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+7098f49dcfd7b91fdd2e23e6cf6d7b5f11279c34	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, @DISEASE$, Warburg Micro syndrome and Martsolf syndrome).	false
+94764a5f29fe59b7c501c6fa8ed4ec0d79dbad2e	@DISEASE$ (GS) is a rare autosomal-recessive genetic disease characterized by @PHENOTYPICFEATURE$ of skin and hair.	has_symptom
+6b7a95326f9a48c7e5525b30b2f0ca4acc2d79a0	Considering that cutaneous @PHENOTYPICFEATURE$ was a common feature between the brothers, genetic analysis for @DISEASE$ was performed.	has_symptom
+385c9dba3754c656708c04683acb8d8688f32801	Localized @PHENOTYPICFEATURE$ can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and @DISEASE$.	has_symptom
+7f95cf79c10c52f790c87c8a38518a0b96ad4e13	Localized hypopigmentation can be found in piebaldism, @DISEASE$ and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+fa9144e168fcac6b654ec473ef524dc20aac3e86	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, @DISEASE$ and Griscelli syndrome.	false
+ea460777dcbf90a2b00d785f584c6ec40ee5579b	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, Chediak-Higashi syndrome and Griscelli syndrome.	false
+2d4b36accc5f2bdb79f781dc4120225b6c33ea2e	Localized hypopigmentation can be found in @DISEASE$, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+1e374b25a1cb8e3717d0c52171ab92ea96ac0078	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and @DISEASE$.	false
+2d418f879fc4903ecd39f9678765eb5ed8bf5b2a	Localized @DISEASE$ can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+7cc4c4f38429fa6ab236544df43cc334a8a54299	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and @DISEASE$, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+94a18f11bb46837a0601f150288dfd2c1888523c	@DISEASE$ (GS) is a rare autosomal recessive disorder that associates @PHENOTYPICFEATURE$, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of either a primary neurological impairment or a severe immune disorder.	has_symptom
+f1f43bc82166347db9bb7fe292459900e7c14883	@DISEASE$ is a rare autosomal recessive inherited disorder characterized by @PHENOTYPICFEATURE$, silver colored hair, and associated immunological deficiency, which proves fatal in the absence of timely intervention.	has_symptom
+284ce709d9c395f8cb8415abfdcd85bc5df25e4b	The ashen (ash) mouse, a model for Hermansky-Pudlak syndrome (HPS) and for a subset of patients with @DISEASE$, presents with @PHENOTYPICFEATURE$, prolonged bleeding times, and platelet storage pool deficiency due to a mutation which abrogates expression of the Rab27a protein.	has_symptom
+c4d4f61300b1c14b93ff6f8e3bcb922fb137f127	@DISEASE$ (Caffey disease) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, @PHENOTYPICFEATURE$ and irritability.	has_symptom
+7be526fcd63246d8aea25516fc2091bf116b2ada	Infantile cortical hyperostosis (@DISEASE$) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, @PHENOTYPICFEATURE$ and irritability.	has_symptom
+a25aa9ea67884237932e0b965517572ce38e09ac	Infantile cortical hyperostosis (Caffey disease) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, @DISEASE$ and irritability.	false
+914f2f33559d2b74783af3da831097b717c6c1d8	@DISEASE$ (Caffey disease) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+4e5a1193fdbf6430a7b60189555c7f821cfc026e	Infantile cortical hyperostosis (@DISEASE$) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+ad00060bb8ae1cb9d1575b246cdeab959881db4d	It is synonymous with '@DISEASE$' and 'Caffey's-Silver syndrome'.It is characterized by @PHENOTYPICFEATURE$, irritability, bone pain and characteristic bony changes.	has_symptom
+c4d4f61300b1c14b93ff6f8e3bcb922fb137f127	@DISEASE$ (Caffey disease) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, @PHENOTYPICFEATURE$ and irritability.	has_symptom
+7be526fcd63246d8aea25516fc2091bf116b2ada	Infantile cortical hyperostosis (@DISEASE$) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, @PHENOTYPICFEATURE$ and irritability.	has_symptom
+a25aa9ea67884237932e0b965517572ce38e09ac	Infantile cortical hyperostosis (Caffey disease) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, @DISEASE$ and irritability.	false
+914f2f33559d2b74783af3da831097b717c6c1d8	@DISEASE$ (Caffey disease) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+4e5a1193fdbf6430a7b60189555c7f821cfc026e	Infantile cortical hyperostosis (@DISEASE$) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+5aea2a1b8abecf42eb7d1de90689c9a027638720	@DISEASE$ is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies, cleft lip or palate, poor dentition, poor hair growth, dystrophic nails, and @PHENOTYPICFEATURE$, and hypospadias in boys.	has_symptom
+021cdf1b015f097f2505bbbfac48b2dd6ab91277	The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), @PHENOTYPICFEATURE$, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in @DISEASE$.	has_symptom
+e233283589e49a573d3061e7762ef3ab1ab34a84	The patient presented with @PHENOTYPICFEATURE$, hypotonia, trigonocephaly, @DISEASE$, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome.	false
+5ebe3ad3a7b28e5e97daa4c2f0c36c888adfe138	The patient presented with @PHENOTYPICFEATURE$, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in @DISEASE$.	false
+debafde6268a269a0200713183bf931c7b1efa5e	The patient presented with @PHENOTYPICFEATURE$, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), @DISEASE$, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome.	false
+ace29fbd37b62ece7058885bb2df7054a4f0976b	[A 46-year-old woman with @DISEASE$, abdominal pain, @PHENOTYPICFEATURE$, diarrhea, and pancytopenia].	has_symptom
+3a98cfe1d039e9e1a33697e1fe88063005395f59	[A 46-year-old woman with @DISEASE$, @PHENOTYPICFEATURE$, fever, diarrhea, and pancytopenia].	false
+3cc57f83015a2259140261900c7c0903462d425e	[A 46-year-old woman with rheumatoid arthritis, @PHENOTYPICFEATURE$, fever, @DISEASE$, and pancytopenia].	false
+0e9e55e1c54ea5e3ecec5e074132b80608ba55d2	[A 46-year-old woman with rheumatoid arthritis, @PHENOTYPICFEATURE$, @DISEASE$, diarrhea, and pancytopenia].	false
+9e9f28e40528cb1413528c59b24b5a761981e106	[A 46-year-old woman with rheumatoid arthritis, @PHENOTYPICFEATURE$, fever, diarrhea, and @DISEASE$].	false
+b3ab72f2d6607d8bc9d43cf98e86d58d6627d177	The clinical features of @DISEASE$, such as pain, swelling, stiffness, @PHENOTYPICFEATURE$, and general debility, are almost identical to that of Amavata.	has_symptom
+305deeaecff4e2598ac08d501cdc26e393c25148	Common presentations include lymphadenopathy, @PHENOTYPICFEATURE$ and systemic symptoms, hemolytic anemias, skin rashes, and @DISEASE$.	has_symptom
+809319e852d6d7cc52d6e6df0aa480fa7f6d5f85	A patient with @DISEASE$ presented with increasing fatigue, @PHENOTYPICFEATURE$, gingival bleeding, and petechial rash.	has_symptom
+74a9514224163cc59df62d52eddb0c3fd6fc72a4	A 56-year-old woman suffering from @DISEASE$, was admitted to our hospital for evaluation of @PHENOTYPICFEATURE$ and dyspnea.	has_symptom
+48594c175e2a7395a9fdcb519762236e59ab7333	A 57-year-old woman presented with @PHENOTYPICFEATURE$, vomiting and arthralgia, with a history of @DISEASE$.	has_symptom
+9a84a6250eac8de995c3b569eefc3a1cde3ee7a7	A 57-year-old woman presented with @DISEASE$, vomiting and @PHENOTYPICFEATURE$, with a history of rheumatoid arthritis.	false
+a247614e2dd29a1301552ba452663bac933a66b2	A 57-year-old woman presented with fever, @PHENOTYPICFEATURE$ and arthralgia, with a history of @DISEASE$.	false
+614aa37d62d9a57662afce1eec01fc198698a3aa	A 57-year-old woman presented with @DISEASE$, @PHENOTYPICFEATURE$ and arthralgia, with a history of rheumatoid arthritis.	false
+4338e1a1219b46a122fe38bd3ef2214ebe538bf3	A 57-year-old woman presented with fever, vomiting and @PHENOTYPICFEATURE$, with a history of @DISEASE$.	false
+18739f0a0669458d5943105e5b3d62f1cf652cd7	[Erroneous interpretation of @PHENOTYPICFEATURE$ syndrome in @DISEASE$ and Bechterew's disease].	has_symptom
+394db2078ceef5580a8dba929d8d3a45c0f96633	A 28-year-old @DISEASE$ woman treated with adalimumab was admitted with @PHENOTYPICFEATURE$, cough, and right chest pain.	has_symptom
+9252d8676fbb7376d16b1d38ea72051819073246	A 70-year-old woman afflicted with @DISEASE$ was consulted another hospital because of @PHENOTYPICFEATURE$ and abnormality in chest X-ray.	has_symptom
+fe41972f5f8b2e39db251f3429041fa7a54521bf	Traditionally S. anacardium is used for rejuvenation, @DISEASE$, @PHENOTYPICFEATURE$ and neurological disorders.	has_symptom
+9e8f8dac282af1c57082268ebea53f4be16f16b2	One patient had a @DISEASE$ syndrome with diarrhea, hypokalemia, and @PHENOTYPICFEATURE$, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	has_symptom
+d04ccf40ca0aa254e3820d59d5a26f26d60c3d39	One patient had a VIPoma syndrome with diarrhea, @PHENOTYPICFEATURE$, and @DISEASE$, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+6891d1089f62cda627875b713271cf968526df22	One patient had a @DISEASE$ syndrome with diarrhea, @PHENOTYPICFEATURE$, and hypercalcemia, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+88991540e2045c99f8a0dc2c458de5ec4d4afc84	One patient had a VIPoma syndrome with @DISEASE$, @PHENOTYPICFEATURE$, and hypercalcemia, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+500c21bcf40c8b13580c1e5e8fde20409cefc5f1	One patient had a VIPoma @DISEASE$ with diarrhea, @PHENOTYPICFEATURE$, and hypercalcemia, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+46712dac6ed0e647adb76d90521b3c17f6447e54	This type of ectodermal dysplasia, @DISEASE$, features normal teeth with severe hair and @PHENOTYPICFEATURE$.	has_symptom
+410347fcc617abd83a1a27015d675d8848b5b9b4	Hypotrichosis and @PHENOTYPICFEATURE$: a novel @DISEASE$.	has_symptom
+6b9d724bc14cadc486beed9c5e6511769faf6030	@PHENOTYPICFEATURE$ and @DISEASE$: a novel hidrotic ectodermal dysplasia.	false
+779d6db81e284e5ff7c15ff23088953776756315	@PHENOTYPICFEATURE$ and nail dysplasia: a novel @DISEASE$.	false
+8b545bc886a4c4ea458374d90dff6c9b658c524d	In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, @PHENOTYPICFEATURE$, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of @DISEASE$.	has_symptom
+8c51299b5a7f413f9f92d4e5a882088c6e9d1d70	In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and @PHENOTYPICFEATURE$, all leading to the clinical diagnosis of @DISEASE$.	false
+1e502da1bf4f91cf539a92bf6818c7ee22f4f01c	In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, @DISEASE$, up-slanting palpebral fissures, almond-shaped eyes, and @PHENOTYPICFEATURE$, all leading to the clinical diagnosis of Char syndrome.	false
+bebd48256bf1453aab4d91fcc617d4e102beb8bc	@DISEASE$ (CS) is considered an overgrowth disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for @PHENOTYPICFEATURE$.	has_symptom
+912ab7a99bef36f48e17494c9ba6bce7cbd63ce3	Costello syndrome (CS) is considered an @PHENOTYPICFEATURE$ disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for @DISEASE$.	false
+5e8c7705e013db2bf6ca16da0cbd308664732dda	@DISEASE$ (CS) is considered an @PHENOTYPICFEATURE$ disorder given the macrosomia that is present at birth .However, shortly after birth the weight drops dramatically and the patients are usually referred for failure to thrive.	false
+2c38b9e68c9baaf362bacff9ffdd795bb88037c0	@DISEASE$ encompasses pre- and postnatal medical problems including polyhydramnios, @PHENOTYPICFEATURE$, cardiac complications, and an increased risk for solid tumors.	has_symptom
+8c3e4ed2ba4075092c796dc2860787efb08071d9	Costello syndrome encompasses pre- and postnatal medical problems including polyhydramnios, @DISEASE$, cardiac complications, and an increased risk for solid @PHENOTYPICFEATURE$.	false
+a5bfc70397c6f13ac3db84739e1475f5e5bce84a	@DISEASE$ encompasses pre- and postnatal medical problems including polyhydramnios, failure to thrive, cardiac complications, and an increased risk for solid @PHENOTYPICFEATURE$.	false
+5f7fd7b5c3bce9581e03343e954019621ab98086	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, @PHENOTYPICFEATURE$, developmental delay, cardiac and skeletal anomalies and a predisposition to develop neoplasia, both benign and malignant.	has_symptom
+104bd7ff6ede511dc236a803388064128516dabb	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies and a predisposition to develop @PHENOTYPICFEATURE$, both benign and malignant.	false
+dba3a3c197d2bffe3e2d4d02c02249a7819d505e	Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, @DISEASE$, developmental delay, cardiac and skeletal anomalies and a predisposition to develop @PHENOTYPICFEATURE$, both benign and malignant.	false
+a5f328823a0333132683ba27f406163db0cc7304	Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, @DISEASE$, developmental delay, cardiac and @PHENOTYPICFEATURE$ and a predisposition to develop neoplasia, both benign and malignant.	false
+8ac45b619950200e42275248f60c3a22d654930f	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and @PHENOTYPICFEATURE$ and a predisposition to develop neoplasia, both benign and malignant.	false
+a01890f315fab007d95a938e546b10ed102c8913	@DISEASE$ (CS) is a rare multiple congenital abnormality syndrome, associated with @PHENOTYPICFEATURE$ and developmental delay.	has_symptom
+347d5d95964a99f69d442682d6238f8de1cbaca4	@DISEASE$ (CS) is a congenital disease that is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, mental retardation and cardiomyopathy.	has_symptom
+5b722486f862472fb600a99a2a6fa63208e43ddb	Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, @DISEASE$, @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+ef471eef119099f001bc32edb6f1048e8353071b	@DISEASE$ (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+1a800b9a0c0a123a26e243532313cfaa685c6e98	Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4f0b8e74db698060ffee4250ed867885495ec3e2	@DISEASE$ (CS) is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphisms, cardiac and skin abnormalities, mental retardation, and predisposition to malignancies.	has_symptom
+ee5c560c77b535056d347da80309c7a58ab706a7	Costello syndrome (CS) is a rare congenital disorder characterized by failure to thrive, craniofacial dysmorphisms, cardiac and skin abnormalities, @PHENOTYPICFEATURE$, and predisposition to @DISEASE$.	false
+8df051877d7cc0c07d1f08794c0d0c9e52ba325c	Costello syndrome (CS) is a rare congenital disorder characterized by @DISEASE$, craniofacial dysmorphisms, cardiac and skin abnormalities, @PHENOTYPICFEATURE$, and predisposition to malignancies.	false
+34d03182ebff18c4afec9a86a5862b797c7f2d81	@DISEASE$ (CS) is a rare congenital disorder characterized by failure to thrive, craniofacial dysmorphisms, cardiac and skin abnormalities, @PHENOTYPICFEATURE$, and predisposition to malignancies.	false
+d19aa64d1f26a4e510b800e0128e567c1901861d	@DISEASE$ is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and @PHENOTYPICFEATURE$.	has_symptom
+9d79b9d65dfc794d0b71636fb808f0bfa1d0dc2c	Costello syndrome is a rare genetic condition characterized by coarse facies, @PHENOTYPICFEATURE$, loose folds of skin especially on hands and feet, severe feeding difficulties and @DISEASE$.	false
+a6517a9fe8b59bd65700f4f3b2589ef4cb8da329	@DISEASE$ is a rare genetic condition characterized by coarse facies, @PHENOTYPICFEATURE$, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive.	false
+a4dcf20308d4f833c8a7005b71abd3e5624e913c	@DISEASE$ is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, @PHENOTYPICFEATURE$, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.	has_symptom
+396cda6b56357e38623ae629352af6c03cc931ea	@DISEASE$ is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and @PHENOTYPICFEATURE$.	false
+5c8a4421af25302a3ec9ebc3b05c847bc998f693	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal @PHENOTYPICFEATURE$, @DISEASE$, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.	false
+09ec804b59824a68d4879933303937c3cdced1be	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+100a6c2d3434cb31cf140df732bdbe3bcda93610	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal @PHENOTYPICFEATURE$, postnatal failure to thrive, classic facial gestalt and multisystem involvement including @DISEASE$ and intellectual disability.	false
+a9d6acbfe3ab2e84426fdc6f9c454271d6c5f92f	@DISEASE$ is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal @PHENOTYPICFEATURE$, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability.	false
+96f97e346353ddb1e8382fd3e59d39cb676e057e	Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, @DISEASE$, classic facial gestalt and multisystem involvement including cardiomyopathy and @PHENOTYPICFEATURE$.	false
+70aef3fabb415dc23176bbd09de7a3617f6e48db	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, @PHENOTYPICFEATURE$, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop neoplasia.	has_symptom
+a0a13498a2347c9509c65432cb07b7b94352d172	Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, @DISEASE$, developmental delay, cardiac and @PHENOTYPICFEATURE$, and a predisposition to develop neoplasia.	false
+0e4968d95b9d060a25a508f944f1775486d28724	Costello syndrome (CS) is a complex developmental disorder involving characteristic craniofacial features, @DISEASE$, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop @PHENOTYPICFEATURE$.	false
+5e8e5d5abe5212a7ca01e2fe01bc4ec9a5d7a135	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and skeletal anomalies, and a predisposition to develop @PHENOTYPICFEATURE$.	false
+c85589042dc5f307cbfc58ab3e6987f566ffe881	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and @PHENOTYPICFEATURE$, and a predisposition to develop neoplasia.	false
+599fa9411b0499f534903089884db735f39f077d	@DISEASE$ (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia.	has_symptom
+3c6afd27ff87c730b8098ba77498d50526e59c00	Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, @DISEASE$, cardiac and skin anomalies, intellectual disability, and a predisposition to @PHENOTYPICFEATURE$.	false
+e152175c4a994092dc658b51cbd702834b056dc1	@DISEASE$ (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to @PHENOTYPICFEATURE$.	false
+97073049564e02dd90e34fd37d81da51dde014c4	@DISEASE$ (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, @PHENOTYPICFEATURE$, and a predisposition to neoplasia.	false
+bc1bbae3a0077046deb16de1488dd45beffcf437	Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, @DISEASE$, cardiac and skin anomalies, @PHENOTYPICFEATURE$, and a predisposition to neoplasia.	false
+9624a47d39cda80aca5838ca15466a9683987b7c	@DISEASE$ (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, @PHENOTYPICFEATURE$, bone marrow failure, and a high risk of malignancies.	has_symptom
+0e910e5d84adafee0b18cc499f986a2eb3fdf10a	@DISEASE$ (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, @PHENOTYPICFEATURE$, and increased cancer risk.	has_symptom
+069ecd010d78a747639acfb61e57d11e82ba897f	Fanconi anemia (FA) is a rare inherited @DISEASE$ characterized by progressive bone marrow failure (BMF), @PHENOTYPICFEATURE$, short stature, and increased cancer risk.	false
+05cdcbd656a6f17800db32235602fdab5423fb94	Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), @PHENOTYPICFEATURE$, @DISEASE$, and increased cancer risk.	false
+c10905cbc8a5707653974ba50490dac7731f19ad	@DISEASE$ (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), @PHENOTYPICFEATURE$, short stature, and increased cancer risk.	false
+f23a8104c25d6dd05a306811f6195d73c15ac091	Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), @PHENOTYPICFEATURE$, short stature, and increased @DISEASE$ risk.	false
+34a16d8a59f7794a80c70dbfe8f89938f262b448	In 1927 Guido Fanconi described a hereditary condition presenting panmyelopathy accompanied by @PHENOTYPICFEATURE$ and hyperpigmentation, now better known as @DISEASE$ (FA).	has_symptom
+9e3ca8504fa0b4669d29c8d44214a7999c861c28	Pancytopenia, hyperpigmentation, @PHENOTYPICFEATURE$, congenital abnormalities, and predisposition to neoplasia characterize @DISEASE$ (FA).	has_symptom
+b41793313e7af0e2b10185cfc2b54015251754d2	Pancytopenia, hyperpigmentation, small stature, congenital abnormalities, and predisposition to @PHENOTYPICFEATURE$ characterize @DISEASE$ (FA).	false
+a3410c67238b11fcba797809f8ce85202fc4bea6	Pancytopenia, hyperpigmentation, @DISEASE$, congenital abnormalities, and predisposition to @PHENOTYPICFEATURE$ characterize Fanconi anemia (FA).	false
+91caddc822546926c2e8ae4c92f96b2d8d875d76	Pancytopenia, hyperpigmentation, small stature, @DISEASE$, and predisposition to @PHENOTYPICFEATURE$ characterize Fanconi anemia (FA).	false
+1f9e16c79fc98fe037993400ca2c1d7deeabd861	Mutation in the COX4I1 gene is associated with @PHENOTYPICFEATURE$, poor weight gain and increased chromosomal breaks, simulating @DISEASE$.	has_symptom
+387166216b15834dfd8f837a16cca1f30e21b137	@DISEASE$ (FA) is a rare inherited disease characterized by developmental defects, @PHENOTYPICFEATURE$, bone marrow failure, and a high risk of malignancies.	has_symptom
+f292d8af1effb826a84509958589b8c535d9606b	Final @PHENOTYPICFEATURE$, found in five of the 35 patients who attained final height, was associated with the underlying disease (specifically, @DISEASE$) (P=0.0013),	has_symptom
+ad049e22df76c5374b7edc027d5007ebfdf13b60	We report here an Indian case with @DISEASE$ (FA) presented with fever, pallor, @PHENOTYPICFEATURE$, hyperpigmentation and upper limb anomaly.	has_symptom
+30ccc85231727c0319861d94886ccdb46601c387	We report here an Indian case with Fanconi anemia (FA) presented with @PHENOTYPICFEATURE$, pallor, @DISEASE$, hyperpigmentation and upper limb anomaly.	false
+2662a26126f73629261b0e6fff687d8dfcaa20d5	We report here an Indian case with @DISEASE$ (FA) presented with @PHENOTYPICFEATURE$, pallor, short stature, hyperpigmentation and upper limb anomaly.	false
+016a649e0f99eff3466e0cb5d5779fbc54d29724	We report here an Indian case with Fanconi anemia (FA) presented with fever, pallor, @DISEASE$, hyperpigmentation and upper @PHENOTYPICFEATURE$.	false
+27c0c4446eae81bb8a2c6717fe773399c9f8d76c	We report here an Indian case with @DISEASE$ (FA) presented with fever, pallor, short stature, hyperpigmentation and upper @PHENOTYPICFEATURE$.	false
+d8e304be6ae37f503531e462eeb6a555b4d3bc84	@DISEASE$ (FA) is an inherited DNA repair disorder associated with @PHENOTYPICFEATURE$ and bone marrow failure, usually requiring hematopoietic cell transplantation (HCT).	has_symptom
+706ecc6e0b6fa79e460743fda80eceb15590e382	He had failure to thrive, and has microcephaly, slight facial dysmorphism, and constitutional @PHENOTYPICFEATURE$ but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	has_symptom
+6aedc56732c28a6d506007c67b285317683a8c40	He had @PHENOTYPICFEATURE$, and has microcephaly, slight facial dysmorphism, and constitutional @DISEASE$ but no other phenotypic or hematological manifestations of Fanconi anemia (FA).	false
+3bbc2a0768019ec061bb5fd3671040db73d1f4a8	He had failure to thrive, and has @PHENOTYPICFEATURE$, slight facial dysmorphism, and constitutional @DISEASE$ but no other phenotypic or hematological manifestations of Fanconi anemia (FA).	false
+47e73fd7a6cc34e999e5504115af656a8f773f72	He had failure to thrive, and has microcephaly, slight @PHENOTYPICFEATURE$, and constitutional @DISEASE$ but no other phenotypic or hematological manifestations of Fanconi anemia (FA).	false
+5c510e9b0ab2069ee30b5b38626c4602936f59e8	He had @PHENOTYPICFEATURE$, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+30ee2c2d263e64c410004c7264c3ad168f930ee3	He had failure to thrive, and has microcephaly, slight @PHENOTYPICFEATURE$, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+8b4542437a41f7eb5a5526c6746be483db07ad72	He had failure to thrive, and has @PHENOTYPICFEATURE$, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+e6a758f3db046094d30d4c7179e09dd8e7378116	Increased total tau levels in ADD/MCI, @PHENOTYPICFEATURE$, and multiple system atrophy, and increased P181tau in @DISEASE$/MCI indicated that these biomarkers corresponded to neurodegeneration and tauopathy, respectively.	has_symptom
+69c58ef785ca9a7943562c91c787746285bbb677	Patients with polyfocal @DISEASE$ with @PHENOTYPICFEATURE$ were younger (median 3.9 years) than patients with ON (median 14.6 years, p < 0.001) or monofocal ADS (median 16.0 years, p < 0.001).	has_symptom
+92398a878e96333abbdaa31f1f1509f3f1f59942	This case of @DISEASE$ presented as a critically ill eleven-year old with significant tachypnea, dyspnea, vague @PHENOTYPICFEATURE$, intermittent emesis, new onset seizure, metabolic acidosis, and hypoxemia.	has_symptom
+48d377165d9b0a601cffd0037c0f75332e3e69ba	This case of Wilms tumor presented as a critically ill eleven-year old with significant tachypnea, dyspnea, vague @DISEASE$, intermittent emesis, new onset @PHENOTYPICFEATURE$, metabolic acidosis, and hypoxemia.	false
+654f29623cd795dd2de0a2c1afcb351bd07afbb5	This case of @DISEASE$ presented as a critically ill eleven-year old with significant tachypnea, dyspnea, vague abdominal pain, intermittent emesis, new onset @PHENOTYPICFEATURE$, metabolic acidosis, and hypoxemia.	false
+b5636668a38e227ae4928b9af613548232b9dc80	Using a retrospective study design, we compared the craniofacial morphology cephalometrically, of 14 Japanese girls at age 9 years with a @DISEASE$ (Group_CSP), with 13 age-matched Japanese girls with cleft soft and hard palate, not extending as far as the incisive foramen (Group_CPNIF), and 12 age-matched Japanese girls with cleft soft and hard @PHENOTYPICFEATURE$, extending as far as the incisive foramen (Group_CPIF), living in the same region (Hokkaido, Japan).	false
+57d98d51e6da838dc17a03f9acb36c92417f369c	@DISEASE$ (MPS III) is characterized by progressive neurological deterioration, @PHENOTYPICFEATURE$, a relatively mild somatic phenotype, and early mortality.	has_symptom
+e163fe12a060c5dd179d1176be5ad14b007ad4fd	@PHENOTYPICFEATURE$ in the tricho-rhino-phalangeal syndrome (TRP II) or in the @DISEASE$.	has_symptom
+1842377d0e4f3f46373f38a0eda382e1bfc25df3	@DISEASE$ (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by @PHENOTYPICFEATURE$, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents.	has_symptom
+8871a64e3202bb26c1f1eb25691c3b759e14c159	Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, T-cell immunodeficiency, and hypersensitivity to genotoxic agents.	false
+0bd59127236aefc4886a9e70c0f35ed3f693800a	Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, @PHENOTYPICFEATURE$, @DISEASE$, and hypersensitivity to genotoxic agents.	false
+aecaa1a143885c8255688f6d16958b7d45e3756b	@DISEASE$ (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, @PHENOTYPICFEATURE$, T-cell immunodeficiency, and hypersensitivity to genotoxic agents.	false
+831dde7d1bd7ef2f868efd6254a7fde4b6c2c859	Thus, @DISEASE$ should be considered in the differential diagnosis of any patient who manifests a strong family history of premature @PHENOTYPICFEATURE$, glaucoma, or retinal detachment.	has_symptom
+0932b213406de651ae96c5217ea4761e2fee77c3	Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes @PHENOTYPICFEATURE$ and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the @DISEASE$ (arthro-ophthalmopathy)	has_symptom
+2d8c2b2877a5138ec419a9ceb47a8f44edd97a08	A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2. Key words: Marshall syndrome, @DISEASE$, mid-facial dysmorfism, myopia, glaucoma, @PHENOTYPICFEATURE$.	has_symptom
+3c463e53e1420c43f931167cbfc29e5914cba5bd	In this chapter, the following circumstances where pediatric @PHENOTYPICFEATURE$ may be seen are discussed: retinoblastoma, retinopathy of prematurity, lenticonus, congenital rubella syndrome, trauma, microcornea, pediatric uveitis, Hallermann-Streiff syndrome, @DISEASE$, Lowe syndrome, subluxated lens, and after previous intraocular surgery (glaucoma, keratoplasty).	has_symptom
+1a318f7e705daf448967864e40d6ba910cd801ea	Distinctive @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+85897cefd140206a545aa20cdf48b6cc890c0465	We determined the clinical characteristics of @PHENOTYPICFEATURE$ in 133 patients with the @DISEASE$.	has_symptom
+58920905a2317f6e2146ec65dd06128440401bf6	In the series presented, retinal detachment in @DISEASE$ mainly occurs in the second decade of life, with @PHENOTYPICFEATURE$ mainly developing in the fourth decade.	has_symptom
+b06db52a7d8a65350efc7e3261942606e45f88a0	Unexplained aplastic anaemia, immunodeficiency, and @PHENOTYPICFEATURE$ (@DISEASE$) due to mutations in the dyskeratosis congenita gene, DKC1.	has_symptom
+8db8631d067b829f05eec17faf979db72d8e89f0	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	has_symptom
+0c433d502cc4f0d15d64f61a3e20b19e937cb9eb	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+634f3054bb7d9209436720710162ac88d35d2da4	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, and extremely short telomeres.	false
+93acb214e2a6a3be3f3a606714a1d813d43ad15b	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+cd9f4340fa3788d96d94f21eaf23de42e35870f3	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, @DISEASE$, and extremely short telomeres.	false
+c544495240f0a878b64d6000027e14d6dce57a8c	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+644a11fb5921bae1fde6b0b068842f094b7ca7bb	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	has_symptom
+aa3bde8d15415cc5416a720f32f59bbee5b28b73	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, and severe immunodeficiency in addition to features of DC.	false
+a1702ef2345753863c51c9bd1008f8abaf8883b7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @DISEASE$, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+11aecb5b3168355ec14a9b55f69f37790587d465	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+bdae71b7c7c3f0677fe6e3aab383e840cdd5f3f7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+d35c1e5c008806c57d41f8bdab3010ffb22992bd	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe @DISEASE$ in addition to features of DC.	false
+f80373c11866daf3d3c6d5e2e74c4108fdf3d962	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+d096974b1eac33841daa0785cd03b4fa7316289e	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+beaecc1c073f9507d20bec7a3e42fa5c7d56e5f9	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @PHENOTYPICFEATURE$, @DISEASE$, and growth retardation.	false
+1dbadc3115467656f41c7fa3e6acafc37248902a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	false
+7257d4ccbdc3d420cd1c285bf672386a8d1d8251	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	false
+6294c29a401d216dbe0918493eaf4e25470f485a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+8b7a88ffcd5380dc26b7a7852bbe11b176c780ed	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+1dc080bc6de322effd13a98523c08eff908bd813	The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes @PHENOTYPICFEATURE$, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	has_symptom
+216860014335f4d527115fdd1432d3ee209002a7	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe @DISEASE$, enteropathy, and intrauterine growth retardation.	false
+b1da4c39b092ea7e9a55adacd6d11c76faee709b	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe @DISEASE$, enteropathy, and intrauterine growth retardation.	false
+48c6767d92baf047da866419c80a17493006d12f	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes @DISEASE$, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+6a3beba9a81b1d14928bca5594e718e391f41b11	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+43ba22b7672d8c047075d8fd2924ba02a4fbdf66	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and @DISEASE$ is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+0b575fb657b6181330bdaefd48a4edb218595dcf	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and @DISEASE$.	false
+768856a84f43b8567fd2fcb533094df3ec600278	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+3e42dcd5d29ea979ff0c40d0ccf581aaca730894	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes @DISEASE$, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+792773449a9c5a71a16d0ee4a201d62adfafdd32	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and @DISEASE$ is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+4dbad87b354996b98bf2593907c2443667ce59f8	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and @DISEASE$.	false
+e28fc8f7c7db5fead5edfa65a086beee08daed7c	The @DISEASE$: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and @PHENOTYPICFEATURE$.	has_symptom
+3419e0c531bc8d8db45e4c5ef2be716c1a99d9ee	@DISEASE$ (HH) is a clinically severe variant of DC in which patients also have @PHENOTYPICFEATURE$ and may present with severe immunodeficiency and enteropathy.	has_symptom
+462c011ec6bfbd434e6c5170d27ba42cef8d8aeb	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes @PHENOTYPICFEATURE$, immunodeficiency, and intrauterine growth retardation.	has_symptom
+dcec1bc19b0111163d3378f81e1a7720fc6defb1	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and @DISEASE$.	false
+e37bb329c56a239c557bb15c5e5440741b53eed8	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes @DISEASE$, immunodeficiency, and intrauterine growth retardation.	false
+c3e38e6a9f709d1b7d87809a5713ec9945d413c3	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+0846e477156774b0535e3b0dada3f590d5607734	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes @DISEASE$, immunodeficiency, and intrauterine growth retardation.	false
+f760549e469d85fe55bd3ad0a916145a01912a65	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and @DISEASE$; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+00530ef433f774ffef278062acb5212326b7304d	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, @DISEASE$, and intrauterine growth retardation.	false
+caab066b0860fb27fb86c31e8dc8a45839197baa	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and @DISEASE$; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+487c67c6dfcc059f2b1efa92f99e3444ce65e9ac	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+a93aafa748f3c3488bd7440ea4a3eadcf92311fd	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and @DISEASE$.	false
+24fc3de9369b90ccb0fe2815058a316e8483b92b	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, @DISEASE$, and intrauterine growth retardation.	false
+0b4e47f8e5e729eba96f6c00b75e1580c1dddaa1	The hallmarks of this affection, also called @DISEASE$, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, @PHENOTYPICFEATURE$, and a remarkable advance in skeletal maturation.	has_symptom
+20e356b641e0897899aaadff58490c40e287dca7	The hallmarks of this affection, also called Blomstrand chondrodysplasia, are @PHENOTYPICFEATURE$, polyhydramnios, hydrops fetalis, facial anomalies, @DISEASE$, and a remarkable advance in skeletal maturation.	false
+c43b7b190b936a36548252748f592ffd6e8f8320	The hallmarks of this affection, also called Blomstrand chondrodysplasia, are @PHENOTYPICFEATURE$, polyhydramnios, hydrops fetalis, @DISEASE$ anomalies, increased bone density, and a remarkable advance in skeletal maturation.	false
+8c496ca32bdc677578abc4bafa9312c7a8d0ec3f	The hallmarks of this affection, also called @DISEASE$, are @PHENOTYPICFEATURE$, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation.	false
+db51260359e8f1512de3eca9700952498f34a465	We present a case of diffuse lymphoid nodular lymphoid hyperplasia in a patient who was presented with @PHENOTYPICFEATURE$ and diarrhea, and was later found to have IgG2 subclass immunodeficieny, @DISEASE$ and Hashimoto's (autoimmune) thyroiditis.	has_symptom
+536f24895763ad74ea4fbde98f93ca0ef8407c6d	A girl aged 11 years presented with @DISEASE$ with thrombocytopenia, and subsequently developed severe @PHENOTYPICFEATURE$, vomiting, and pollakiuria.	has_symptom
+da538efb51173d98002a717bde14367ad7202d7a	A girl aged 11 years presented with autoimmune hemolytic anemia with thrombocytopenia, and subsequently developed severe @DISEASE$, @PHENOTYPICFEATURE$, and pollakiuria.	false
+2b39fdaf296ce32b1906deb1254555f98445bc8c	A girl aged 11 years presented with @DISEASE$ with thrombocytopenia, and subsequently developed severe abdominal pain, @PHENOTYPICFEATURE$, and pollakiuria.	false
+40c5f6971f0dc8757ae2c8223fe6e6e212363608	A girl aged 11 years presented with autoimmune hemolytic anemia with @DISEASE$, and subsequently developed severe abdominal pain, @PHENOTYPICFEATURE$, and pollakiuria.	false
+570cba5525c77afedb20b7307189787879a8e3b6	All four cases had a uniform presentation in the neonatal period, much like @DISEASE$ - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated @PHENOTYPICFEATURE$ or even sudden death; erythematous skin rashes; and camptodactyly.	has_symptom
+9751ecac14f38579ec0b346728b3851a83d8bcad	Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, @PHENOTYPICFEATURE$ and hearing loss (@DISEASE$).	has_symptom
+1f8344a31df04dd513d44239bca43e2b8ee3f66d	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, @PHENOTYPICFEATURE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	has_symptom
+3b6e2a944c2df80c3ed10e853324db7e1c97376c	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @PHENOTYPICFEATURE$, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+11a7890d94ac1006b61cb2831800cb99594e7d87	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, @DISEASE$, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+cffbb4864b1b2961782e2806ac2097c5e33f00c1	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, @PHENOTYPICFEATURE$, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+8fd57fb8ea2c42ebe3d7362e4f58268af7d0ed3e	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @PHENOTYPICFEATURE$, intellectual disability, @DISEASE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+33b2ab3782d4c848dfd097b4f000f2bdd4c96048	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, @PHENOTYPICFEATURE$, @DISEASE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+f5b78c43da5d3a38396f0a01129e36d1a062413f	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+45d45970cc38481da7d33a577e97a2e75da451cd	Besides being one of the few @DISEASE$ cases to be genetically characterized, this case is interesting because of the unusually early-onset @PHENOTYPICFEATURE$.	has_symptom
+a9dfb58ceae0f3495e42d9574a42e615c70883c5	To report a rare reason for primary amenorrhea, a @DISEASE$, XY gonadal dysgenesis associated with @PHENOTYPICFEATURE$ with eventual development of gonadoblastoma.	has_symptom
+c097a333a7a710a92676bac003e6928e020507ed	We report a case of @DISEASE$ in a 17-year-old adolescent girl with @PHENOTYPICFEATURE$, kidney transplant, and dysgenetic gonads, with development of gonadoblastoma and dysgerminoma (seminoma).	has_symptom
+24ff44832be6259571cc4c17f5db322d35a58b69	@DISEASE$ is a rare autosomal recessive disorder which presents with male pseudohermaphroditism with gonadal dysgenesis, @PHENOTYPICFEATURE$ in early adulthood and increased risk of developing gonadoblastoma.	has_symptom
+8f5c13039119dc2c589b95482b5547ab030f2923	@DISEASE$ with childhood-onset @PHENOTYPICFEATURE$.	has_symptom
+d4ab923005ccfdce607c38c11e916481c409b6f5	These data suggest that in the @DISEASE$, XY sex reversal and @PHENOTYPICFEATURE$ could be the result of either faulty gene(s) located downstream in the sex differentiation pathway during embryogenesis, or impaired SRY regulation.	has_symptom
+743c270bb21d1a2d488555fe789467dec207655e	The association of primary amenorrhea with @PHENOTYPICFEATURE$ suggested @DISEASE$ (FS) or Denys-Drash syndrome (DDS).	has_symptom
+8600f460e02c278edc653004999778a6a0ab17c7	WT1 gene mutation responsible for male sex reversal and @PHENOTYPICFEATURE$: the @DISEASE$.	has_symptom
+7d3d98fc59a3474363c6b72200dc58fb0f294566	The absence of such alterations in three patients with @DISEASE$ provides a molecular basis for distinguishing these two syndromes that are associated with streak gonads, pseudohermaphroditism and @PHENOTYPICFEATURE$.	has_symptom
+a84d3122736092ebc52fbca4283eafc93b161411	@DISEASE$ with @PHENOTYPICFEATURE$ at onset in the UK.	has_symptom
+0b3dfdd9a36324c28e3071dbf0e2eefa3a81a26d	@DISEASE$ is a prion disease characterized by rapidly progressive dementia, @PHENOTYPICFEATURE$ and myoclonus.	has_symptom
+8f64a61a46c00f03985cb5da91e0259919e7fdd9	To determine the frequency, in the UK, of @DISEASE$ (sCJD) with a @PHENOTYPICFEATURE$ onset, and to describe the clinical features of the syndrome.	has_symptom
+29d068bceebc51738cf4b0661eca3edc220c1b70	Making a clinical diagnosis of @DISEASE$ relies on the evaluation of rapidly progressive dementia, @PHENOTYPICFEATURE$, myoclonus, changes on the electroencephalogram, and other neurological signs.	has_symptom
+1cccb63fe75aab6652ec85ce025bb4d3ebf973c9	Our case report suggests that @DISEASE$ must be hypothesized when @PHENOTYPICFEATURE$ worsens rapidly and severely despite rehabilitation.	has_symptom
+e44ff12c064fa6dd7119dc5a559de5adebe73d20	A man was studied with @DISEASE$ (sCJD) who had serial cortical syndromes evolving over 15 months without significant @PHENOTYPICFEATURE$, prominent myoclonus, or periodic complexes on EEG examinations.	has_symptom
+7a9e81daf0678b1f431e3ea8240e37361756a79e	Eleven patients presented with @PHENOTYPICFEATURE$, and none had the characteristic EEG changes found in @DISEASE$.	has_symptom
+7a1980902f4bdee46bcba486e7e7185d497bf33d	@DISEASE$ (sCJD) is a fatal, rapidly progressive dementia generally associated with @PHENOTYPICFEATURE$, pyramidal and extrapyramidal symptoms and myoclonus.	has_symptom
+a309c7a05ad9f1ad9677466c6f3519af7dd915f1	@DISEASE$ (CJD) is a fatal, transmissible spongiform encephalopathy characterized by rapidly progressive dementia, myoclonus, @PHENOTYPICFEATURE$ and akinetic mutism.	has_symptom
+6087fb2adb99564adecfcddef3dd7fd7600bba9c	Towards an early clinical diagnosis of @DISEASE$ VV2 (@PHENOTYPICFEATURE$ type).	has_symptom
+da791fc97df77ec9240551abd1c35dd746d0abf8	@PHENOTYPICFEATURE$ aggravates dysphagia in @DISEASE$.	has_symptom
+2279ad449abeb7a734b4d292ce259195f102b315	Ptosis aggravates @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2658af937c0bedddbe9cf16ba7733734641b32e6	@DISEASE$ aggravates @PHENOTYPICFEATURE$ in oculopharyngeal muscular dystrophy.	false
+10ca789e8318046c266e62d3f02bdba78af51d1f	Autosomal dominant @DISEASE$ (OPMD) usually begins with @PHENOTYPICFEATURE$ or dysphagia during the fifth or sixth decade of life.	has_symptom
+23a3d0ec6d8cfff739b3af4436ed08444d83c5a6	Autosomal dominant oculopharyngeal muscular dystrophy (@DISEASE$) usually begins with @PHENOTYPICFEATURE$ or dysphagia during the fifth or sixth decade of life.	has_symptom
+a8d203d7ffa03ebe85d1da4915d099d64c95f25a	Oculopharyngeal muscular dystrophy (@DISEASE$) causes @PHENOTYPICFEATURE$, dysphagia, and limb weakness.	has_symptom
+206b38f3093fd313cf12535c894cea335dfb71dc	@DISEASE$ (OPMD) causes @PHENOTYPICFEATURE$, dysphagia, and limb weakness.	has_symptom
+6b28310a3e3bba52711d7c84fab95030c9196c43	@PHENOTYPICFEATURE$ and dysphagia are important features in oculopharyngeal muscular dystrophy (@DISEASE$).	has_symptom
+abf905b8bcc36042a85001c0502acdb2568f2892	@PHENOTYPICFEATURE$ and dysphagia are important features in @DISEASE$ (OPMD).	has_symptom
+db5dbb9fff0a12a53e8957e68ac417ce4dcb39e3	@DISEASE$ (OPMD) is mainly characterized by @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+29ef9a7e4449519bc2032a2b1edafcf6b88b56b6	Oculopharyngeal muscular dystrophy (@DISEASE$) is mainly characterized by @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+8410d0190fbb33d1e7f5cab647df6fed9297cc87	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late-onset disorder characterized by @PHENOTYPICFEATURE$, dysphagia, and weakness of proximal limbs.	has_symptom
+e67922107b12c20e6c6f1eaabab9293cdf0e0313	@DISEASE$ (OPMD) is a late-onset disorder characterized by @PHENOTYPICFEATURE$, dysphagia, and weakness of proximal limbs.	has_symptom
+43ea8da4f1dca8f5ed657ffc2460833639663d32	@DISEASE$ (OPMD) is a late-onset autosomal dominant genetic disease mainly characterized by @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+5fa29dbe00e5b1a774c7dbc29721b211facbd35d	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late-onset autosomal dominant genetic disease mainly characterized by @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+0125ee23dccf3595ac6cdc0305fc67406250cbf0	Oculopharyngeal muscular dystrophy (@DISEASE$) is an adult-onset disorder characterized by @PHENOTYPICFEATURE$, dysphagia and proximal limb weakness.	has_symptom
+2eb36cb0cd140a48f2ee97314800b026998d0a1c	@DISEASE$ (OPMD) is an adult-onset disorder characterized by @PHENOTYPICFEATURE$, dysphagia and proximal limb weakness.	has_symptom
+49829a9f14875d0b8fd647a049b566459d965cf4	Complications of @DISEASE$ include @PHENOTYPICFEATURE$ and progressive dysphagia leading to eventual malnutrition and aspiration.	has_symptom
+6c40431b037a82be0da28e5411756730c48c79df	@DISEASE$ (OPMD) is an autosomal dominant disorder of late onset that commonly presents with @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+7c5d09219ed0f86f8615efcbac84c28b5c28e479	Oculopharyngeal muscular dystrophy (@DISEASE$) is an autosomal dominant disorder of late onset that commonly presents with @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+b679fb985c7c9cbf60ef596ec56392faf674d55e	These vasoactive factors could cause systemic vascular endotheliosis and consequent increase in vascular resistance and blood pressure, glomerular endotheliosis causing proteinuria, cerebrovascular endotheliosis causing cerebral edema, @PHENOTYPICFEATURE$ and visual disturbances, and hepatic endotheliosis, which may contribute to the manifestations of @DISEASE$.	has_symptom
+10ad410658ec6c8b706e167b0574130239dd0837	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and @DISEASE$; some predisposing factors are @PHENOTYPICFEATURE$, vomiting, labor, preexistent hepatic disease and trauma.	has_symptom
+c0dd3c1fd1f46de94a44e6493b2f586b549682c1	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are seizures, @PHENOTYPICFEATURE$, labor, preexistent hepatic disease and @DISEASE$.	false
+c3352d3447d289a98a2c0c4a841b200f197b42ab	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and @DISEASE$; some predisposing factors are seizures, @PHENOTYPICFEATURE$, labor, preexistent hepatic disease and trauma.	false
+980a8512da140a5cb6a526ea9d72ffab5d5370a1	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are @DISEASE$, @PHENOTYPICFEATURE$, labor, preexistent hepatic disease and trauma.	false
+4d34121c10250866bc09a209fd9cb91620819dea	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are seizures, @PHENOTYPICFEATURE$, labor, preexistent @DISEASE$ and trauma.	false
+f2664ccd4d9c4cf8c7e3183d5542ebe5eade6a92	The most common causes of @DISEASE$ hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are seizures, @PHENOTYPICFEATURE$, labor, preexistent hepatic disease and trauma.	false
+6363e7ba1c4e0d4147b25e5591c77847a04bb951	Of the total deaths, 71.3% of women had @PHENOTYPICFEATURE$ and 67.1% developed @DISEASE$.	has_symptom
+8931835c6740c604eed8181fd61aabe88438f625	Almost one in 50 women suffering eclamptic @PHENOTYPICFEATURE$ die, 23% will require ventilation and 35% will have at least one major complication including pulmonary oedema, renal failure, disseminated intravascular coagulation, @DISEASE$, acute respiratory distress syndrome, stroke, or cardiac arrest.	has_symptom
+8dea5d977b3c2283d5d728c7ba5b183cd92f0c0f	Almost one in 50 women suffering eclamptic seizures die, 23% will require ventilation and 35% will have at least one major complication including pulmonary oedema, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, HELLP syndrome, @DISEASE$, stroke, or cardiac arrest.	false
+1d691ac8848f673e995bf646c84cd13fb7b3f862	Almost one in 50 women suffering eclamptic seizures die, 23% will require ventilation and 35% will have at least one major complication including pulmonary oedema, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, HELLP syndrome, acute respiratory distress syndrome, stroke, or @DISEASE$.	false
+7aeb1eac2bbf50a947c9a5348a1dcc3748f477de	Almost one in 50 women suffering eclamptic seizures die, 23% will require ventilation and 35% will have at least one major complication including @PHENOTYPICFEATURE$, renal failure, disseminated intravascular coagulation, HELLP syndrome, @DISEASE$, stroke, or cardiac arrest.	false
+417212b9f9df8d357f37149a5932747b7cbd30de	Almost one in 50 women suffering eclamptic @DISEASE$ die, 23% will require ventilation and 35% will have at least one major complication including pulmonary oedema, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, HELLP syndrome, acute respiratory distress syndrome, stroke, or cardiac arrest.	false
+d4ed7ef4962f40a86fb72b356fa49b5facc27a45	Almost one in 50 women suffering eclamptic seizures die, 23% will require ventilation and 35% will have at least one major complication including pulmonary oedema, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, @DISEASE$, acute respiratory distress syndrome, stroke, or cardiac arrest.	false
+963f901a1e37dd1699918bbd7bbc3dcae93a08bf	Almost one in 50 women suffering eclamptic seizures die, 23% will require ventilation and 35% will have at least one major complication including @PHENOTYPICFEATURE$, renal failure, disseminated intravascular coagulation, HELLP syndrome, acute respiratory distress syndrome, stroke, or @DISEASE$.	false
+b0157a0c53cd0dc8112846eb1b81dd1d87fdfc9f	Almost one in 50 women suffering eclamptic seizures die, 23% will require ventilation and 35% will have at least one major complication including @PHENOTYPICFEATURE$, renal failure, disseminated intravascular coagulation, @DISEASE$, acute respiratory distress syndrome, stroke, or cardiac arrest.	false
+199bd87faa1979ee25fe79e371a5048a594d720e	Almost one in 50 women suffering eclamptic @DISEASE$ die, 23% will require ventilation and 35% will have at least one major complication including @PHENOTYPICFEATURE$, renal failure, disseminated intravascular coagulation, HELLP syndrome, acute respiratory distress syndrome, stroke, or cardiac arrest.	false
+efb4906ec36d2284630d9a3316ab6d23ebee175a	Anticholinergics, blocking agents of the parasympathetic nervous system, can enhance the hyperactivity of the sympathetic nervous system; therefore, vasospasms of the vessels may be easily aggravated, and eclamptic @PHENOTYPICFEATURE$ may be induced in patients with severe preeclampsia, especially in those complicated by @DISEASE$.	has_symptom
+78f83f55501d9b292f0057223e88f0a8f69a425b	Such maternal complications of PIH include severe hypertension, oliguria or anuria, @DISEASE$, eclamptic @PHENOTYPICFEATURE$, liver rupture, pulmonary edema, cerebral edema, and abruptio placentae.	has_symptom
+b8a36aa9e5a50e4cb38f80e059232c8226f07c35	Such maternal complications of PIH include severe hypertension, oliguria or anuria, HELLP syndrome, eclamptic @DISEASE$, liver rupture, @PHENOTYPICFEATURE$, cerebral edema, and abruptio placentae.	false
+4c8951160a0d0d905bbc97c45a7b39e898fe800c	Such maternal complications of PIH include severe hypertension, oliguria or @DISEASE$, HELLP syndrome, eclamptic seizures, liver rupture, @PHENOTYPICFEATURE$, cerebral edema, and abruptio placentae.	false
+aa61824062f7cb9b0b72f135392295533621d26b	Such maternal complications of PIH include severe hypertension, oliguria or anuria, @DISEASE$, eclamptic seizures, liver rupture, @PHENOTYPICFEATURE$, cerebral edema, and abruptio placentae.	false
+640d58ca027967646e12f010b0c4f45a606bc622	Women with severe hypertension in pregnancy manifesting with @DISEASE$ show a significantly greater frequency of developing DIC, @PHENOTYPICFEATURE$ and acute renal failure.	has_symptom
+1fac66c90fc769cef9617a8bb1c0047805366e42	Among our preeclamptic cohort were 10 pregnancies further complicated by @DISEASE$ (hemolysis, elevated liver enzymes, and low platelets); and one pregnancy complicated by an eclamptic @PHENOTYPICFEATURE$.	has_symptom
+c0ae011e3769e0f777dd4088bf14ca52910715ac	We present a rare case of @DISEASE$ which presented with ICH and further complicated by @PHENOTYPICFEATURE$, disseminated intravascular coagulation, and acute renal failure.	has_symptom
+51d68e440f0f26ee56e8bd393a8f933d01f2d88b	They must be investigated too when the fetus shows hydrops fetalis, @PHENOTYPICFEATURE$, cardiomyopathy, and pericardial effusion; also when there is a family history of IEM or sudden infant death in a brother or @DISEASE$ in the pregnant mother.	has_symptom
+5cce6c802e1551cb151e4dd753dc6e944f3c2e50	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	has_symptom
+b8f96903559b483bca8b8206d505dc9bad253fd5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+d565bce2533eea6d2f13d7a3f084634863e40f94	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eedae195ffc1dd90538e0687af6c633458b76946	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+a05f14193e9df5a1a0dba9e6ab0d957b2bd41bb5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+3ab4049036e11fe919e1120ed1d09761eadf07c2	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset @DISEASE$ 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+31a499f6520a41e932458836358d8b57e2bf7dff	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB @DISEASE$ (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+84ce17b565da44ea8f1031449e8b145d60714b4c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (@DISEASE$ susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+667f633abe05e3e8fcc7cd5ae5714dafde362cc1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+8a5fdcd1dc9fc0584013fc8ae9f409984124e7ba	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (@DISEASE$, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dcdee0c226f0f113268c6da3e4c4a91b68ff3b9c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal @DISEASE$, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+5ea45b8ed296792c32cd9c8fe5885665c4f10f8c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+2bdc159e3088fb20bc8d4b54951fd473594e68a6	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+6b49a370b232d0e4bb87e11a2b07b2db39743267	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dcd176f7b223a33adf164c22992fa581a7e6591c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+36ec3077a10dc472d62cac4586c4fa950e6956fa	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, @DISEASE$, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+71bff801b5f8b671e86baa0816807f39c43c3dd7	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (@DISEASE$, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+814d7c9baa5768a1ef81230e17385edbd844e807	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @DISEASE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+04b40812b53894440f5a3231bc9ed375a8cc97a3	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+e426a7b711bb035ea233838ee95ee1b038b183e1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, @DISEASE$ of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dd2bdb0ab0caaa496416926980ed422c5b0bad5b	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+88914dbb23521c398618756b0bcbfeee5b11295f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+53799ef9f3cb70f7db0e3826db0eb40185794ccd	We report a woman with the syndrome, who had peripheral polyneuropathy, @DISEASE$, monoclonal IgA elevation, hypothyroidism, hypogonadotrophic hypogonadism, @PHENOTYPICFEATURE$, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea.	has_symptom
+cce09b790ec979653a41b3e1746e5e7a358da41b	We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, @PHENOTYPICFEATURE$, hyperprolactinemia, @DISEASE$, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea.	false
+9da5ec3281399d572829c96f8f320115a069cc3c	We report a woman with the syndrome, who had peripheral polyneuropathy, @DISEASE$, monoclonal IgA elevation, hypothyroidism, @PHENOTYPICFEATURE$, hyperprolactinemia, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea.	false
+5a52ab9f60b0bf33b75ecc7993215a81df310c9f	We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, @PHENOTYPICFEATURE$, @DISEASE$, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea.	false
+15ef3cd7c49765eaf6b33bae8e74292dd4fabb41	We report a woman with the syndrome, who had peripheral @DISEASE$, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, @PHENOTYPICFEATURE$, hyperprolactinemia, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea.	false
+5bfba585b69db841cf849fb3b745ae10054ed987	We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, hypothyroidism, @PHENOTYPICFEATURE$, hyperprolactinemia, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and @DISEASE$.	false
+ae2a596e061b897c29c8a1b2d4563911cbc73b0e	We report a woman with the syndrome, who had peripheral polyneuropathy, osteosclerotic myeloma, monoclonal IgA elevation, @DISEASE$, @PHENOTYPICFEATURE$, hyperprolactinemia, adrenal insufficiency, hepatosplenomegaly, lymphadenopathy, thyroid and parotid enlargement, Castleman?s disease, papilledema, stiff and hyperpigmented skin, white nails, clubbing, ascites and chronic diarrhea.	false
+e05d54a673d686ea41763d731598646610e6c443	@DISEASE$ is a rare form of slowly progressive or nonprogressive @PHENOTYPICFEATURE$, characterized by multiple cores within the muscle fibers.	has_symptom
+bb149cf4a3c7e7bdc364610c4c25dbdb58f1d0eb	@DISEASE$ is a nonprogressive @PHENOTYPICFEATURE$.	has_symptom
+ac3f4ce1206475c0d026c8220fb29716f8b58eec	The available data suggest that many patients with @DISEASE$ are asymptomatic and that the risk of stone formation is increased by an associated metabolic abnormality such as @PHENOTYPICFEATURE$ or hyperparathyroidism.	has_symptom
+78b9927d8343f790ea4da6dcfefb0ae6515b767e	The available data suggest that many patients with @DISEASE$ are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as hypercalciuria or hyperparathyroidism.	false
+a6b6a0d946e531781d6cde132ea3020102b7775c	The available data suggest that many patients with MSK are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as @DISEASE$ or hyperparathyroidism.	false
+f9f861001815ee219434a36e36fe6fd83f929fd2	The available data suggest that many patients with @DISEASE$ are asymptomatic and that the risk of stone formation is increased by an associated metabolic abnormality such as hypercalciuria or @PHENOTYPICFEATURE$.	false
+d5eb25c6e7aeb8178fb54e948848bff1b85cf590	The available data suggest that many patients with MSK are asymptomatic and that the risk of stone formation is increased by an associated metabolic abnormality such as @DISEASE$ or @PHENOTYPICFEATURE$.	false
+8b5cdcfe4a23cea85d0f958fef9ee76c7791adcd	Persistent @PHENOTYPICFEATURE$ in malignant @DISEASE$.	has_symptom
+65231492cbbac3223616c346ce352175f132e368	Permanent @PHENOTYPICFEATURE$ is a well established major sequela of @DISEASE$ (IIH).	has_symptom
+46938a2151d32186c143013c4cda399b02ff822d	To analyze the development and occurrence of the idiopathic intracranial hypertension and consequent @PHENOTYPICFEATURE$ in a family affected with @DISEASE$.	has_symptom
+0a59cfa8ecb8f0ba47b459321b58e879821d59a6	To compare French and American white patients with @DISEASE$ (IIH), and to determine prognostic factors associated with @PHENOTYPICFEATURE$.	has_symptom
+06c7b6c90c5da508eda4b2207f71bd8b0179a8e8	The symptoms of @DISEASE$ patients are headache, transient visual obscurations, photopsia, retrobulbar pain, diplopia, @PHENOTYPICFEATURE$ and papilledema.	has_symptom
+49c7abb90cd5f8c5ed41a33819d907398610769a	Transconjunctival optic nerve sheath fenestration is a?relatively safe method to reduce the rate of @PHENOTYPICFEATURE$ in @DISEASE$ syndrome.	has_symptom
+121c7f4f6a3059186e94ade43643a8f7995d3f2c	Factors affecting @PHENOTYPICFEATURE$ and visual recovery in patients with @DISEASE$ syndrome.	has_symptom
+fca5430d9d347621e5c91cc33c2ea4e85ee671d0	Although visual problems are recognised, the severity of @PHENOTYPICFEATURE$ and its link with @DISEASE$ (IIH) has not been reported.	has_symptom
+307c5645c21023b7efd9317f7aca555db509c68c	Management of patients with @DISEASE$ (IIH) should be based on the presence and progression of @PHENOTYPICFEATURE$.	has_symptom
+cf4dca111ab3749878aaf8d34348300ccb96a74b	In this prospective noncomparative, interventional study, 41 eyes of 21 patients with @DISEASE$ and CVT and @PHENOTYPICFEATURE$ underwent ONSD.	has_symptom
+9e50a8490463262b4b3033f16683cc26025c8d83	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and @PHENOTYPICFEATURE$ including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	has_symptom
+ce305f527f54a1ed1922992addbf8b66de9b4d2b	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @PHENOTYPICFEATURE$) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+a84e70922ab5b6d044e92ffe18c4ff8d71c277d6	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive @PHENOTYPICFEATURE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+486be928751c407adcff70a7deb88d6f222a2705	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and @DISEASE$ including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+409adfb7e158db8bab85a0ba06397c7d74098916	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and @DISEASE$ including hoarse voice, as well as marked early expressive @PHENOTYPICFEATURE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+510d3629154110e361fe7ff2e519d068290691bb	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+8e713001692873a5555b30069ca55363c46f4505	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @PHENOTYPICFEATURE$) and craniofacial features, ocular abnormalities, middle ear and @DISEASE$ including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+0242588c8c16cb757c3de1d73cc701b9c37ea479	Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and @PHENOTYPICFEATURE$ (@DISEASE$; OMIM 300290) has been described.	has_symptom
+2409fac74547dd4692eb4a180917c691ee273a62	Recently, an association between Intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described.	false
+21a4854536a1e940166304907fd211936b86bf48	Recently, an association between Intrauterine growth restriction, @PHENOTYPICFEATURE$, Adrenal hypoplasia congenita, and @DISEASE$ (IMAGe syndrome; OMIM 300290) has been described.	false
+de9512eabfc652e2838955fa1df3c5ea980c1840	Recently, an association between Intrauterine growth restriction, @PHENOTYPICFEATURE$, Adrenal hypoplasia congenita, and Genital abnormalities (@DISEASE$; OMIM 300290) has been described.	false
+31d52ee0b13fbffb4a2a2b721e8f14c1b435f946	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with @DISEASE$ (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and @PHENOTYPICFEATURE$).	has_symptom
+e90c138120093df5dcd8181486a6c1fad12a8a4d	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and genital anomalies).	false
+fea2f6f6258592889ae608a67abc5faa493d6758	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and @DISEASE$).	false
+b6d9ac32cbc958e2f73557753b901180e0d85ec0	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with @DISEASE$ (intrauterine growth restriction, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and genital anomalies).	false
+759e2b8ac06377c1fc5d19032287e4e7b99dd6d2	@DISEASE$ (LGMD2A) is the most frequent autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+31570b862b32331a8f5f04d19519384a1890edfc	@DISEASE$ is a rare autosomal recessive syndrome associated with @PHENOTYPICFEATURE$ and early onset periodontal disease that results in loss of the teeth.	has_symptom
+801f1c35bd099263eb47541bf049c41efd6e549b	Papillon-Lef?vre syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ caused by cathepsin C (CTSC) gene mutations.	has_symptom
+1f74dc58549587fa70ff6609e13fec0e44e1f03f	The syndrome resembles Papillon-Lef?vre syndrome (@DISEASE$), characterized by @PHENOTYPICFEATURE$, periodontitis and psoriasis-like skin lesions, and particularly Haim-Munk syndrome, an allelic variant of PLS with acro-osteolysis.	has_symptom
+a1d5006786dc6d0bb54a32f93ec205cdd6df18c3	The syndrome resembles Papillon-Lef?vre syndrome (PLS), characterized by @PHENOTYPICFEATURE$, periodontitis and psoriasis-like skin lesions, and particularly Haim-Munk syndrome, an allelic variant of @DISEASE$ with acro-osteolysis.	has_symptom
+2848a141a1aa7281988caa726d145c2e2c774a06	@DISEASE$ (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by @PHENOTYPICFEATURE$, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth.	has_symptom
+c21e67f404808b5046641b52a5c96d514263eff9	Papillon-Lefevre syndrome (@DISEASE$; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by @PHENOTYPICFEATURE$, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+ca7a4fc99232b12572e27e20d6685e43b26e205f	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	has_symptom
+66b370ab46e71a74eec05c12838b537f9152290b	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+0ed2c87300feb57691d9e603301deeeaf69a8d88	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and spastic quadriplegia.	false
+2f8e777e8f98420ef40a509361d93c1caf95a2f6	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and spastic quadriplegia.	false
+c0d970935bbb14dbbae536d463f8f0e2dfefe3c1	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, @DISEASE$, and spastic quadriplegia.	false
+0210e97d50f8a48fa11f7cab025976abf4973d2c	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+5bb8e0dc12650adc86ecb5b0e28b4bfe6312eb2e	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and @DISEASE$.	false
+7bd662e2941853c405aef238a451e7d831f122ad	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+1898563d0bf090e329f535d2b3423b00ee09907a	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, @DISEASE$, and spastic quadriplegia.	false
+1d0a976615e0bad3196baada6dac00611f0f9773	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+a972ba81f53e8308f3ee82c10728c4db45bb4595	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included failure to thrive, microcephaly, @PHENOTYPICFEATURE$ and elevated level of protein in CSF.	has_symptom
+199d3aff21214b69c80a83467c45b20382ae8d86	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included @PHENOTYPICFEATURE$, microcephaly, @DISEASE$ and elevated level of protein in CSF.	false
+6b325b9fe3c1f9df19693148b6835bf627db764d	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, @PHENOTYPICFEATURE$, @DISEASE$ and elevated level of protein in CSF.	false
+3bc496b68e92199fbb7a859c07906071e938d2bc	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included failure to thrive, @PHENOTYPICFEATURE$, peripheral neuropathy and elevated level of protein in CSF.	false
+e8263404bbe41ece5382db9dc287b89618b00646	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy and elevated level of protein in CSF.	false
+9439a491170cc5e64a0cd963fd0f5a6ae7f38fcc	@DISEASE$ is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	has_symptom
+9daca5f37c165072055d4c46043b3a9b1469d53c	@DISEASE$ is an autosomal recessive multisystem disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+11dfc432344a2eadf4c80880a97e69349be0e2f7	Cockayne syndrome is an autosomal recessive @DISEASE$ characterized by intellectual disability, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+23e3538e05e5cf6062b5aecdaf809a0f2c8a54e7	Cockayne syndrome is an autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+a101f8140a0a9aa4e223eb07a908a437f4651ba2	@DISEASE$ is an autosomal recessive multisystem disorder characterized by @PHENOTYPICFEATURE$, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+9dcd2e9ef5672905282f35d298fed20e76bf5e05	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, @DISEASE$, and cutaneous sensitivity.	false
+a7458b9d01de5ab27316aa8ea18236a436625ac1	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by @PHENOTYPICFEATURE$, microcephaly, severe growth failure, sensory impairment, @DISEASE$, and cutaneous sensitivity.	false
+2753e73bfb9c4534ccfe8122edfef6e5ea65bfb3	Anophthalmia, to our knowledge, has not been reported previously in @DISEASE$; however, eye findings are common, particularly @PHENOTYPICFEATURE$ and cloudy cornea.	has_symptom
+6b6219ed1e3ddb7c87fac68bd7d46327f563e8ad	In addition, we contribute three new patients with @DISEASE$, one of which demonstrated unilateral @PHENOTYPICFEATURE$ and cloudy cornea.	has_symptom
+738379b91908d1283a8beab3fc97db1bdc0a8676	We report on a case of @DISEASE$ with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, @PHENOTYPICFEATURE$ (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	has_symptom
+598d1807cbc521921ce8baab74dd2281c1973d10	We report on a case of Fryns syndrome with @PHENOTYPICFEATURE$, multiple @DISEASE$ anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+1a0075324956ffd3119ef238bf71318ef1277d30	We report on a case of Fryns syndrome with microcephaly, multiple @DISEASE$ anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and @PHENOTYPICFEATURE$, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+6940bb3611232673ed2ab297c7cfdfa8f2d1e661	We report on a case of @DISEASE$ with @PHENOTYPICFEATURE$, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+601fb21eeb10451a87e46d2a7b280f609b1c09ef	We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and @PHENOTYPICFEATURE$, midline cleft of the @DISEASE$ lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+5a0c7bcaa3e4bfe634d13507be10bd0957c09442	We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, @DISEASE$ (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and @PHENOTYPICFEATURE$, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+425e1c8b8e4b591a00a3af46387b2fc678e42838	We report on a case of Fryns syndrome with @PHENOTYPICFEATURE$, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, @DISEASE$ (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+69ef253b8a1d8cebb13c7f6b2eed82fac41077ef	We report on a case of @DISEASE$ with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and @PHENOTYPICFEATURE$, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+88f3c355ca1771df604723b58739bac488527805	We report on a case of Fryns syndrome with @PHENOTYPICFEATURE$, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including @DISEASE$, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+ebc2b476d5860048443cd94d9045c520f39a73ec	We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including @DISEASE$, central nervous system defects including left arrhinencephaly and @PHENOTYPICFEATURE$, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+d13ddcb31f3603ea88b0201eea8911d6b434f1e5	We report on a case of Fryns syndrome with @PHENOTYPICFEATURE$, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the @DISEASE$ lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+04377a022f53f907c8b0ccf95e7fbd0bd293c9d2	In the @DISEASE$, the nervous system is particularly affected while in Morquio a disease, a @PHENOTYPICFEATURE$ and a normal intelligence are characteristic.	has_symptom
+cacdce1fd48c20b79e8891f24c533aecfc839172	Main features of @DISEASE$ are @PHENOTYPICFEATURE$ concomitant with premature loss of primary and permanent dentition due to progressive periodontitis.	has_symptom
+2bae1fb7ec84a0f672857adb2ccfef317f4fda69	Papillon-Lef?vre syndrome (@DISEASE$), @PHENOTYPICFEATURE$ with periodontitis, has been genetically characterized.	has_symptom
+d5f75f0dfb56e152c9136dcdf260099dd0c78ee8	Papillon-Lef?vre syndrome (@DISEASE$) is an autosomal recessive disease, characterized by severe periodontitis and @PHENOTYPICFEATURE$.	has_symptom
+f1742e99d17cffb5e2de5def40a50ffa7b7842fa	Papillon-Lef?vre Syndrome (@DISEASE$) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and severe periodontitis affecting both primary and secondary dentitions.	has_symptom
+b64e764277598b095b7acb9d08cf7cf8a3d9402f	Papillon-Lef?vre syndrome (@DISEASE$; OMIM 245000) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ and periodontitis.	has_symptom
+f525a67e2da7de2a144e92355dfb033ffaa1be1c	@DISEASE$ (PLS) belongs to a heterogeneous group of skin diseases that are characterized by @PHENOTYPICFEATURE$.	has_symptom
+f2d4b5c6f4c598708f52ea8d66fe0f50edd436cf	Papillon-lefevre syndrome (@DISEASE$) belongs to a heterogeneous group of skin diseases that are characterized by @PHENOTYPICFEATURE$.	has_symptom
+f303473b640b49a288d0d015d1f04ff53cf9a430	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder of keratinization, characterized by @PHENOTYPICFEATURE$, periodontal involvement and precocious loss of dentition.	has_symptom
+96fbd86f9093d6fb571877990895f2222750a6c2	@DISEASE$ (PLS) is a rare autosomal recessive disorder of keratinization, characterized by @PHENOTYPICFEATURE$, periodontal involvement and precocious loss of dentition.	has_symptom
+8f403c3530ec4d1f778e39ad62dea52aa9541c38	@DISEASE$ (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous @PHENOTYPICFEATURE$, early-onset periodontitis, and associated calcification of dura mater.	has_symptom
+caab8f1e68db5dc2bdece9901031545752e9ee53	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous @PHENOTYPICFEATURE$, early-onset periodontitis, and associated calcification of dura mater.	has_symptom
+26a40867be64dec7616526dfe6988b41e32b6ba1	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.	false
+ed4152ca274925516447a656dc3e72fcb65f70fc	@DISEASE$ (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.	false
+837e76cc69a70682b8b17e2912fd1e968612c4d0	Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset @DISEASE$, and associated calcification of dura mater.	false
+f8fb92a1f5660fc808086553a76ddd18f98fafcb	Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ @DISEASE$, early-onset periodontitis, and associated calcification of dura mater.	false
+3009742f6662e5a467e7ba427c34df6a0b2ac845	Papillon-Lefevre syndrome (@DISEASE$) is an autosomal recessive disorder characterised by severe early onset periodontitis and @PHENOTYPICFEATURE$.	has_symptom
+eba57a80602d99549dd2dfe1dbfc22b17ee8c169	@DISEASE$ (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and @PHENOTYPICFEATURE$.	has_symptom
+01792e423f65882cf086ba54ca76bcc7f3adfa00	@DISEASE$ is a rare autosomal-recessive congenital differentiation disorder; the external signs are @PHENOTYPICFEATURE$.	has_symptom
+562af0e7ce43638ea7ed9a78b8381ebdb9defb8f	@DISEASE$ is a worldwide disease, characterized by abdominal pain, fever, @PHENOTYPICFEATURE$, and the passage of blood- and mucus-streaked stools.	has_symptom
+b07ad2406f0589f737c3c24d9a502b03041c66f4	@DISEASE$ is a worldwide disease, characterized by abdominal pain, @PHENOTYPICFEATURE$, vomiting, and the passage of blood- and mucus-streaked stools.	false
+cfb378f328c79f719010f7694cb4ec3be6d35ddd	@DISEASE$ is a worldwide disease, characterized by @PHENOTYPICFEATURE$, fever, vomiting, and the passage of blood- and mucus-streaked stools.	false
+220d71ca92398f8c42c75bd36f8a188ed24b7696	Shigellosis is a worldwide disease, characterized by abdominal pain, @PHENOTYPICFEATURE$, @DISEASE$, and the passage of blood- and mucus-streaked stools.	false
+69b341290911b463279bf53c1975339feb81a64e	Shigellosis is a worldwide disease, characterized by @PHENOTYPICFEATURE$, fever, @DISEASE$, and the passage of blood- and mucus-streaked stools.	false
+409633ddbd008f4a97f708e710f5520702f643a9	The @DISEASE$ is an autosomal dominant trait characterized by @PHENOTYPICFEATURE$, patella and radial head, iliac crest and, in some cases, nephropathy.	has_symptom
+a65ac435e422133c8308104bf60622e7ff835be8	@DISEASE$ is a dominantly inherited genetic disorder characterized by @PHENOTYPICFEATURE$, knees, elbows, and pelvis.	has_symptom
+780dd7d9e38e4126cb462668bcf7b19023b6d38a	The major clinical features of @DISEASE$ are type A cystinuria, growth hormone deficiency, muscle weakness, @PHENOTYPICFEATURE$, and feeding problems.	has_symptom
+d114cdd06e8c6ddb2a8e031617eb43bcf8234f32	The hearts came from patients who underwent heart transplantation and were in the end stage of @PHENOTYPICFEATURE$ (coronary artery disease, 4; @DISEASE$; and dilated cardiomyopathy, 6).	has_symptom
+6cb7a2fa25a669422edd1deb04718992c558d368	One cat with hyperthyroidism had renal disease and @PHENOTYPICFEATURE$, and of 2 cats with idiopathic @DISEASE$ also had renal disease.	has_symptom
+0be2fdb69f16d5c5dee8133fd67b1731dc670957	Hydrocephalus, corneal opacities, @PHENOTYPICFEATURE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	has_symptom
+06b941023fc8a6521cf19cfd3d7e8e3436928a9a	Hydrocephalus, @PHENOTYPICFEATURE$, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	false
+81286671f7330a8613b96f9903a8e7f02964146f	Hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+325bb0767b63e4fa0062d37d275d9e1358bbd90d	Hydrocephalus, @PHENOTYPICFEATURE$, deafness, @DISEASE$, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+e5c4862c62bd587b3019e31ddf07b443acfa5963	The aim of this study was to evaluate @DISEASE$ and BMD in women with @PHENOTYPICFEATURE$.	has_symptom
+e8f801127c1f318d23cc22dbb47ff26607b54323	In contrast, @DISEASE$ was higher in women with @PHENOTYPICFEATURE$ than in their taller counterparts (1.347???0.102 vs. 1.250???0.110; p?<?0.001).	has_symptom
+0edfbef4f0f4aafcd788330ff8e62fb0854c90c1	Here we uncover a new subtype of @DISEASE$ with severe @PHENOTYPICFEATURE$ and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene.	has_symptom
+caccf31ade260a41aca10e6f7c2813bbefcd0c66	GH insensitivity (GHI) is characterised by @PHENOTYPICFEATURE$, @DISEASE$ and normal/elevated serum GH.	has_symptom
+50749f70a0c3caef9b574f269629bb09b4ff580a	Although GH therapy stimulates growth in these children, their @PHENOTYPICFEATURE$ is likely due to a form of @DISEASE$ (IGFD) rather than GH deficiency.	has_symptom
+42f7e49e6d7978be0d9c1a62a6dd121f264fa489	Primary @DISEASE$ is a rare disease, mainly resulting in very @PHENOTYPICFEATURE$; (2) Mecasermin is a recombinant IGF-1 marketed for this indication as a twice daily subcutaneous injection; (3) Clinical evaluation is mainly based on a non-comparative follow-up study of 76 children with an average age of 7 years, some of whom were treated for 8 years.	has_symptom
+34aadd4b4bb2f134a9f8a8aad076f642407f0e5e	Study of primary @DISEASE$ in Egyptian children with idiopathic @PHENOTYPICFEATURE$.	has_symptom
+f4efb9dc95571b78d6ae575024b6e0a40daae663	There are eight known genetic causes of @PHENOTYPICFEATURE$ characterized by low serum IGF-1 (@DISEASE$, IGFD) and normal GH secretion.	has_symptom
+4ef94f03a51eb8b3ba58a362cafe7402ef1f48ba	Individuals with Laron syndrome carry mutations in the GHR gene resulting in severe congenital @DISEASE$ and elevated GH serum levels leading to @PHENOTYPICFEATURE$ as well as perturbed lipid and glucose metabolism.	has_symptom
+47310fd7d44350240f141e3f73fab9f5ecef892f	Given the extensive safety data for IGF-1 in children with @PHENOTYPICFEATURE$ due to primary @DISEASE$, IGF-1 is an attractive candidate for controlled clinical trials in SHANK3-deficiency and in ASD.	has_symptom
+f39fe05a3e3cc2e1aafdb5f524485bec26d94f08	@DISEASE$ (GD, OMIM 231050) is an autosomal recessive disorder characterised by @PHENOTYPICFEATURE$, small hands and feet, stiff joints, and thick skin.	has_symptom
+6ef87f4dfae968735247565d774448121f16ba1f	@DISEASE$ is characterized by typical facies ("happy natured"), small hands and feet, @PHENOTYPICFEATURE$, hepatomegaly, and progressive cardiac disease.	has_symptom
+8c14a151f1fce63dd393f6aec6b4a91e2aa2796b	We studied a 35-year-old woman with @DISEASE$, with @PHENOTYPICFEATURE$, small hands and feet, limitation of joint mobility, mild skin thickening, cardiac valvular disease, restrictive pulmonary disease, and microspherophakia.	has_symptom
+744932e2646d7c734c693a22c886d485151871e1	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, @PHENOTYPICFEATURE$ with short limbs, brachydactyly, and joint contractures.	has_symptom
+2c0998b3754cfd45090c7d6370b3fa2755d56644	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.	false
+8b4bfdb0d84a32b83b827ea50109bc76376131bc	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	false
+206972c8c08c75740e55eee2fbb3bedcbf39ca8c	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and @PHENOTYPICFEATURE$.	false
+f0a664663cea45ea719018ad8f05c950ef51e198	Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, @DISEASE$ with short limbs, brachydactyly, and @PHENOTYPICFEATURE$.	false
+0e808071d215aa816b077510b9201b8f89a23e39	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, @PHENOTYPICFEATURE$, and joint contractures.	false
+655e5057d0bee3bd30bedeaf6d2d3be60b0b9fe7	Geleophysic dysplasia is a rare @PHENOTYPICFEATURE$ characterised by 'happy natured' facies, @DISEASE$ with short limbs, brachydactyly, and joint contractures.	false
+e432c9650df4a0a83ceaf106ef99c9de35741783	Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, @DISEASE$ with @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	false
+f9997291c959be6eaa745fc692598ede453121ec	Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, @DISEASE$ with short limbs, @PHENOTYPICFEATURE$, and joint contractures.	false
+9e55cc091fda513c41f6fe78add442d608d0bd41	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	has_symptom
+fe320ada61c472dfd2ad646f69cb4cfc84963f30	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+89b429317b452d17b82afce4482adf1eca8855e3	Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by @DISEASE$, brachydactyly, and @PHENOTYPICFEATURE$.	false
+877b9890cceb7c8a644a018566dbe213e850f76f	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, @PHENOTYPICFEATURE$, and joint contractures.	false
+0c689d72d1aa3e91def858c9b1ffc8ae3fb43a92	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, @PHENOTYPICFEATURE$, and joint contractures.	false
+141bf129d5bfc0d9f7f28bf0ed9fc73f6390d410	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+e338f4c962f5510a7313e74e38c27607523ee5a4	Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by @DISEASE$, @PHENOTYPICFEATURE$, and joint contractures.	false
+e1b66ef4d1f2b4b79e3d5f07eeb9be1d6969e363	Acromicric dysplasia (AD) and @DISEASE$ (GD) are rare skeletal dysplasias characterized by @PHENOTYPICFEATURE$, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress.	has_symptom
+2361ecddfabfcfae1a2a24d3836d72a170c1b846	Acromicric dysplasia (AD) and @DISEASE$ (GD) are rare skeletal dysplasias characterized by short stature, acromelia, @PHENOTYPICFEATURE$, hepatomegaly, hoarseness and respiratory distress.	false
+cf1dbba41c0f536b1ce330b8c1227f5d357a6460	@DISEASE$ (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, @PHENOTYPICFEATURE$, hepatomegaly, hoarseness and respiratory distress.	false
+332952e8d18910025e86786e259f583f910765e8	Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by @DISEASE$, acromelia, @PHENOTYPICFEATURE$, hepatomegaly, hoarseness and respiratory distress.	false
+a8cba4da2e8d15b4b433f7a918b3613090bca594	@DISEASE$, a rare disorder with autosomal-recessive inheritance, is characterized by @PHENOTYPICFEATURE$ with a "happy-looking" facial appearance.	has_symptom
+6d0d9f36d5d1f6d069eedfa851641237bed47137	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$ with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance.	has_symptom
+268022f90fc5ca910a026cedc628a5606a70f24f	Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by @DISEASE$ with short limbs, brachydactyly, @PHENOTYPICFEATURE$, and a good-natured facial appearance.	false
+0cbcae6dcb780d226680934c7ae447ad62b29c11	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, @PHENOTYPICFEATURE$, and a good-natured facial appearance.	false
+fa3babcd49ee0f04a0fc8bc03dda1eb7812bcde4	Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by @DISEASE$ with @PHENOTYPICFEATURE$, brachydactyly, joint contractures, and a good-natured facial appearance.	false
+b3082e7d3a81c84448e7c65f9889bd9bd697d487	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, @PHENOTYPICFEATURE$, joint contractures, and a good-natured facial appearance.	false
+4fe58733612c8349349f1c201374b90d19b4112d	Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by @DISEASE$ with short limbs, @PHENOTYPICFEATURE$, joint contractures, and a good-natured facial appearance.	false
+e33be1e7ac563e053357bc998434666364588144	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with @PHENOTYPICFEATURE$, brachydactyly, joint contractures, and a good-natured facial appearance.	false
+f9de29d949b028f2fa7cbd9d3e9d2feeb0227910	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures.	has_symptom
+c690ee343664108e834d930124e92568c9b7beef	@DISEASE$ is characterized by short stature with short limbs and @PHENOTYPICFEATURE$, a "happy" facial appearance, and joint contractures.	false
+274cbd0f54db3fa93afacc159d14923f8eb1d163	Geleophysic dysplasia is characterized by @DISEASE$ with @PHENOTYPICFEATURE$ and brachydactyly, a "happy" facial appearance, and joint contractures.	false
+74b789d1ae3bc5568acfde7969cfdb5e86255397	@DISEASE$ is characterized by short stature with @PHENOTYPICFEATURE$ and brachydactyly, a "happy" facial appearance, and joint contractures.	false
+6e62299e3385ece02a7884dde64dfe88cf1ebf5a	Geleophysic dysplasia is characterized by @DISEASE$ with short limbs and @PHENOTYPICFEATURE$, a "happy" facial appearance, and joint contractures.	false
+729be233119efffe8d347abf020dddedf1aecd80	Geleophysic dysplasia is characterized by @DISEASE$ with short limbs and brachydactyly, a "happy" facial appearance, and @PHENOTYPICFEATURE$.	false
+80debd4ac46258805514c9e67c46af5459cdddda	@DISEASE$ is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and @PHENOTYPICFEATURE$.	false
+6d944529866435e0fa80a07ddd4732b2d3309c01	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death.	has_symptom
+6c3cddc260e66e2be2cbb08879f5b13ae87d9b86	Geleophysic dysplasia is an autosomal recessive disorder characterized by @DISEASE$, brachydactyly, @PHENOTYPICFEATURE$ and cardiac valvular anomalies often responsible for an early death.	false
+c610d74ae2af4e33b30f56c059b8b8e858755642	@DISEASE$ is an autosomal recessive disorder characterized by short stature, @PHENOTYPICFEATURE$, thick skin and cardiac valvular anomalies often responsible for an early death.	false
+acf543384e679ae5bd9e917facd529402aa9e446	Geleophysic dysplasia is an autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, thick skin and cardiac valvular anomalies often responsible for an early death.	false
+394b45d615960805098e425c0c52f0389a0f981c	@DISEASE$ is an autosomal recessive disorder characterized by short stature, brachydactyly, @PHENOTYPICFEATURE$ and cardiac valvular anomalies often responsible for an early death.	false
+6cf36e7b716262f0130c2734330309a2143fbca1	Twenty-nine patients had hepatitis C virus infection; 4 patients, hepatitis C virus infection and alcoholic liver disease; 4 patients, alcoholic liver disease; 4 patients, cryptogenic @PHENOTYPICFEATURE$; 13 patients, primary sclerosing cholangitis; 5 patients, autoimmune hepatitis; and 3 patients, @DISEASE$.	has_symptom
+c1de3174a8682ffdc9b137f0da2cc7be080cd061	Pretransplant cardiac diagnoses were familial amyloidosis (11), hemochromatosis (1), restrictive cardiomyopathy and cardiac @PHENOTYPICFEATURE$ (1), previously operated congenital heart disease and cardiac cirrhosis (1), and primary pulmonary hypertension with @DISEASE$ (1).	has_symptom
+81730e1b4b0e973b3d04fecf7c009ee64b63d820	Pretransplant cardiac diagnoses were familial amyloidosis (11), hemochromatosis (1), restrictive cardiomyopathy and cardiac cirrhosis (1), previously operated congenital heart disease and cardiac @PHENOTYPICFEATURE$ (1), and primary pulmonary hypertension with @DISEASE$ (1).	has_symptom
+2fda2b4ac63bb68993c353004601c058b4fcf94d	@DISEASE$ (IIAC) was diagnosed radiologically in an infant with sudden onset of @PHENOTYPICFEATURE$.	has_symptom
+33f22175b72b5a786441d17712cba2ceb4eb3e5a	@DISEASE$ is a rare cause of infantile ischemic @PHENOTYPICFEATURE$ with extremely poor prognosis.	has_symptom
+828355fb09a0b2e9d3e0b287f0219239c72755a0	@DISEASE$ represents a prototypic X-linked @PHENOTYPICFEATURE$ condition with full expression of the phenotype in males and little or no expression in females.	has_symptom
+264992930f1e66766ae98b2121debd9e331c9f7e	PQBP1-linked microcephaly (or @DISEASE$) is an X-linked @PHENOTYPICFEATURE$ syndrome, which has clinically recognizable features.	has_symptom
+78facd738cf9f68b3993760c8904b8b68469efad	PQBP1-linked @PHENOTYPICFEATURE$ (or @DISEASE$) is an X-linked mental retardation syndrome, which has clinically recognizable features.	false
+cb4a2444c73202129036c6cdb9b96fd1eab87d6f	PQBP1-linked @PHENOTYPICFEATURE$ (or Renpenning syndrome) is an X-linked @DISEASE$ syndrome, which has clinically recognizable features.	false
+06a93bb9df39f7c34fc6fd257dbba51daeff5daa	PQBP1-linked @PHENOTYPICFEATURE$ (or Renpenning syndrome) is an X-linked mental retardation @DISEASE$, which has clinically recognizable features.	false
+8dae8fa4d54921cdd1b4bfed15dcf64efe479229	Mutations in the PQBP1 gene were reported in several X chromosome-linked @PHENOTYPICFEATURE$ disorders including @DISEASE$.	has_symptom
+f4c6ef96ec3a434c8ca455ae0f249e7d4e60605a	Polyglutamine-binding protein 1 (PQBP1) is an RNA-splicing factor that, when mutated, in humans causes @DISEASE$, an X-linked @PHENOTYPICFEATURE$ disease characterized by severe cognitive impairment, but also by physical defects that suggest PQBP1 has broader functions in embryonic development.	has_symptom
+c76561979463b1840cddf44353e2fb389b2e5656	However, no hint of measurable linkage was found in six pedigrees segregating for G6PD and the @DISEASE$ or other unspecified types of X-linked @PHENOTYPICFEATURE$.	has_symptom
+4d4b5d03ff314f9f2e45cc175c52805b33f410c3	@DISEASE$ is a group of X-linked @PHENOTYPICFEATURE$ syndromes caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene.	has_symptom
+49f030b92ec27509f5f7c3d572a3b332a59f9a3e	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause @DISEASE$ and X-linked @PHENOTYPICFEATURE$ in another family with microcephaly.	has_symptom
+053de9fe105a16d4427a0752619b1bdfba58ab74	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause @DISEASE$ and X-linked mental retardation in another family with @PHENOTYPICFEATURE$.	false
+4d84d635b6cc87097c95b9d202f51414a68c3348	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked @DISEASE$ in another family with @PHENOTYPICFEATURE$.	false
+388dffcce97fb849877d763832b08c8cfd83d7fa	Significance of phenotypic and chromosomal abnormalities in X-linked @PHENOTYPICFEATURE$ (Martin-Bell or @DISEASE$).	has_symptom
+90561dbc72929c5f2cfca34b03f968ef902ad749	The @DISEASE$ spectrum is a rare X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, microcephaly, low stature, lean body and hypogonadism.	has_symptom
+7216127fec4ac68d728643503ec36b5156cd0aab	The @DISEASE$ spectrum is a rare X-linked @PHENOTYPICFEATURE$ syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism.	has_symptom
+0001cda24fccf954ebf549b2ddf3b8c8e2e7eae7	The @DISEASE$ spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, low stature, lean body and hypogonadism.	false
+83c5207e2ce2118182edb488a4395ae8db7e898d	The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, low stature, lean body and @DISEASE$.	false
+234b0802e90daacfe7dccde1d4b9b99541e90a8f	The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, low stature, lean body and hypogonadism.	false
+78e1f174f1540b5d55ca2e2e00b6448f401409f7	The Renpenning syndrome spectrum is a rare X-linked mental retardation @DISEASE$ characterized by intellectual disability, @PHENOTYPICFEATURE$, low stature, lean body and hypogonadism.	false
+667f014df0fa2c9b9e55a4a7e53b4a4545e65c30	The Renpenning syndrome spectrum is a rare X-linked @DISEASE$ syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, low stature, lean body and hypogonadism.	false
+f594dd401d0e52fca75c6082f2e64d6ca5ca9659	@DISEASE$ is a zoonotic disease that may be asymptomatic or result in severe clinical conditions, with severe hemolysis, hepatic, and @PHENOTYPICFEATURE$, in humans.	has_symptom
+d3e56770c1e67e0806cf50daf5b4ea1c85a45e9c	Palisaded and neutrophilic granulomatous dermatitis (PNGD) has been associated with many conditions including @DISEASE$, systemic lupus erythematosus, systemic @PHENOTYPICFEATURE$, and other diseases with circulating immune complexes.	has_symptom
+b1ac1eb983c87ea0bd0591760ea057906225c02c	We thus concluded that POEMS syndrome, steroid-dependent diabetes mellitus, @DISEASE$, RA, and skin @PHENOTYPICFEATURE$ in our patient were triggered by plasma cell dyscrasia.	has_symptom
+36a71146e9ceb51db33f3119f26ca9f49d1f8e44	Monoclonal antibodies are increasingly used to modulate immunologically mediated diseases such as @DISEASE$, psoriatic arthritis, systemic lupus erythematosus, Crohn's disease, multiple sclerosis and systemic @PHENOTYPICFEATURE$.	has_symptom
+e5b6927226691ed9505482953c648a3a02c3a572	Their systemic diseases were allergic thrombopenic purpura, optic neuritis, kidney or heart transplant, Churg and Strauss @PHENOTYPICFEATURE$, facial palsy, @DISEASE$, systemic lupus and a kidney tumor.	has_symptom
+a805ed5ac9d3f7fe73fe7263f97021f86ba18513	In the second part of the study, the target antigens of ANCA were determined in Wegener's granulomatosis, microscopic polyarteritis, systemic @PHENOTYPICFEATURE$, inflammatory bowel disease, @DISEASE$ and systemic lupus erythematosus (SLE).	has_symptom
+ea428822261da0fcfb765b71edf8877c8417f06b	One must distinguish between vascular involvement associated with the pathogenesis of @DISEASE$, isolated digital @PHENOTYPICFEATURE$, and the syndrome of clinical rheumatoid vasculitis.	has_symptom
+b51ee649e5d3f443cfb4b7907c5adb92d265d355	We also compared NET formation between MPO-ANCA-positive/negative MPA and @DISEASE$ (RA)-associated @PHENOTYPICFEATURE$ neuropathy.	has_symptom
+532798e103b2d4421b83d4f0927618d43394ed8a	The paper presents the results of a comparative study performed in the USSR and Poland of @DISEASE$ (RA) patients with extra-articular manifestations of the disease (with skin @PHENOTYPICFEATURE$ and free of it).	has_symptom
+769c10722ef2faac2c4002559361742961fbeccc	Systemic lupus erythematosus, systemic scleroderma, renal @PHENOTYPICFEATURE$, @DISEASE$, mixed connective tissue disease, Sj?gren's syndrome and gout can all manifest in or be accompanied by renal impairment.	has_symptom
+5b15c57a405e9dfa88803ec2b4f72531a2f745ab	Systemic lupus erythematosus, systemic @PHENOTYPICFEATURE$, renal @DISEASE$, rheumatoid arthritis, mixed connective tissue disease, Sj?gren's syndrome and gout can all manifest in or be accompanied by renal impairment.	false
+e48ed391facfe8b748bb35cf945abc487eb5add6	Systemic lupus erythematosus, systemic @PHENOTYPICFEATURE$, renal vasculitis, rheumatoid arthritis, mixed connective tissue disease, Sj?gren's @DISEASE$ and gout can all manifest in or be accompanied by renal impairment.	false
+fbd4c0261bb7e6649335bc353916af25b780d2ed	Systemic lupus erythematosus, systemic @PHENOTYPICFEATURE$, renal vasculitis, @DISEASE$, mixed connective tissue disease, Sj?gren's syndrome and gout can all manifest in or be accompanied by renal impairment.	false
+628e1aef419ac60c9319d62306f16ba90c137240	Systemic @DISEASE$ @PHENOTYPICFEATURE$, renal vasculitis, rheumatoid arthritis, mixed connective tissue disease, Sj?gren's syndrome and gout can all manifest in or be accompanied by renal impairment.	false
+6d4a817b26aadbe06f4fe6f30efaca72588003f7	The search used keywords referring to procalcitonin and systemic lupus erythematosus, antineutrophil cytoplasmic antibody-associated systemic @PHENOTYPICFEATURE$, Goodpasture syndrome, @DISEASE$, and giant cell arteritis.	has_symptom
+8b0644aa8485ee4b18f44a8576e25c4e023c37d1	The @DISEASE$ is a rare inherited disorder in which a major feature, the @PHENOTYPICFEATURE$, is thought to result from a defect in endochondral ossification.	has_symptom
+120a5ca0868544ccff7125b373d1b7fa26a2d03a	@DISEASE$ (DMC) (MIM #223800) is a rare autosomal-recessive type of @PHENOTYPICFEATURE$ accompanied by variable degrees of intellectual disability (ID).	has_symptom
+1fe5eccb0484544372fe187b8609081c7b32d2c0	@DISEASE$ (DMC) is a severe autosomal recessive @PHENOTYPICFEATURE$ associated with mental retardation.	has_symptom
+47700d849d89cedff695750fa753aef35a21bffb	Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+d39a0d06def9cf4dcf3bf9aec6f2d9d6cc86fb63	@DISEASE$ (DMC) is a severe autosomal recessive skeletal dysplasia associated with @PHENOTYPICFEATURE$.	false
+92960f81af67134b7c69ed908f0bc44105450ace	The @DISEASE$ (DMCS) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short-trunk dwarfism and mental retardation.	has_symptom
+fc40c19b5af8d4c6366e22f237303d512a656d62	The @DISEASE$ (DMCS) is a rare autosomal recessive skeletal dysplasia characterized by short-trunk dwarfism and @PHENOTYPICFEATURE$.	false
+31b3c72cd6375d773675f7d5474e40075cdfeec9	The Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive @DISEASE$ characterized by short-trunk dwarfism and @PHENOTYPICFEATURE$.	false
+c3bbcae5c0e28ddeb9483dd18548bc22bff268be	@DISEASE$ (DMCS) is an autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+98796ae3bd83340786570f45ef3b153f6676cfba	We report a case of @DISEASE$, a @PHENOTYPICFEATURE$ with short trunk dwarfism and mental retardation.	has_symptom
+6537bd36dad2a123b469bc9be693cfa310ea2e80	We report a case of @DISEASE$, a skeletal dysplasia with @PHENOTYPICFEATURE$ and mental retardation.	false
+3376bb2c785492bc03ebbbd307c404893a1bf498	We report a case of Dyggve-Melchior-Clausen syndrome, a @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+71a743fcd23aed2870b877b1e7ca17f1ece4ed66	We report a case of Dyggve-Melchior-Clausen syndrome, a @DISEASE$ with short trunk dwarfism and @PHENOTYPICFEATURE$.	false
+ae826f62510cb782c008d98e211d2961e323300c	We report a case of @DISEASE$, a skeletal dysplasia with short trunk dwarfism and @PHENOTYPICFEATURE$.	false
+0844d0b51ea1800b659f71df0f7a40eac2dae1e3	Uncommon @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+5e20ef690b5a05b50b6cd497ca2688351be77c35	@DISEASE$ (TIO) is a rarely diagnosed disorder presenting with bone pain, fractures, @PHENOTYPICFEATURE$, and moderate-to-severe hypophosphatemia resulting from fibroblast growth factor 23-mediated renal phosphate wasting.	has_symptom
+c4b7ec2eeb3c61c629c9bbb091c19110f1916d5e	We report a 31-year-old woman with @DISEASE$ suffering from slowly progressive bilateral @PHENOTYPICFEATURE$ predominantly in the proximal muscles and multiple bone pains for the past 2 years.	has_symptom
+c19a4eb8b16f4380754133d2043f4a4c450f212f	A 52-year-old man, who presented with @PHENOTYPICFEATURE$ and multiple fractures, was found to have low values for serum phosphorus, serum 1,25-dihydroxyvitamin D, and maximal tubular reabsorption of phosphate per glomerular filtration rate, a high level of serum alkaline phosphatase, and a normal serum concentration of parathyroid hormone, characteristic of @DISEASE$.	has_symptom
+0e00ded6ead9192889137ecb4ed0b9b4c3bf71eb	Dymeclin is a Golgi-associated protein whose deficiency causes @DISEASE$ (DMC, MIM #223800), a rare recessively inherited @PHENOTYPICFEATURE$ consistently associated with postnatal microcephaly and intellectual disability.	has_symptom
+80a4ef2e87972272a0e56f3f601d8fc2035a3beb	@DISEASE$ is a rare variety of @PHENOTYPICFEATURE$ which often resembles Morquio syndrome.	has_symptom
+c90f70f74b88ad8bef513ba6a0eb856619e4e621	The @DISEASE$ is a progressive @PHENOTYPICFEATURE$ characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation.	has_symptom
+2806361dbc70da9e949cbd0c9a06aeeb55f43b0d	The @DISEASE$ is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable @PHENOTYPICFEATURE$.	false
+c4d23a233f6cad444aef17f8a927e4b5e8cfc84e	The Dyggve-Melchior-Clausen syndrome is a progressive @DISEASE$ characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, @PHENOTYPICFEATURE$, coarse face, and variable mental retardation.	false
+9f3eec8627dfe3c47095d54eacf5a65c5046e712	The @DISEASE$ is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, @PHENOTYPICFEATURE$, coarse face, and variable mental retardation.	false
+0924bd51323fb2380499d49c55e87ed98ee00d73	The Dyggve-Melchior-Clausen syndrome is a progressive @DISEASE$ characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable @PHENOTYPICFEATURE$.	false
+0e3a26ebff4d37fe06e7ff122654f7b0eafd536e	@DISEASE$ is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, @PHENOTYPICFEATURE$, sensory neural deafness and extrapyramidal features.	has_symptom
+a4c28be07be0ce3556d085a3d65f30e12f22bd53	Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, @DISEASE$, mental retardation, sensory neural @PHENOTYPICFEATURE$ and extrapyramidal features.	false
+a36f0d1511fd18bcabd9ef2b8208a960bfae6f8d	@DISEASE$ is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, mental retardation, sensory neural @PHENOTYPICFEATURE$ and extrapyramidal features.	false
+24cd623e71c105f8ae120d7334666abd928d9b34	Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, @DISEASE$, diabetes mellitus, mental retardation, sensory neural @PHENOTYPICFEATURE$ and extrapyramidal features.	false
+63811566a1dae23aef4e23c116fd4be6fa4c05f5	Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, @DISEASE$, sensory neural @PHENOTYPICFEATURE$ and extrapyramidal features.	false
+58681b0d6312a7fb6da2a580a80215ccd5d29730	@DISEASE$ (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, @PHENOTYPICFEATURE$, deafness, diabetes mellitus and progressive extrapyramidal defects.	has_symptom
+b371846ea4643b2b493a08301a387bd3b59adf6a	Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, @DISEASE$, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+13e274b80bc478ed51248db0f78db98c8d45e60c	Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive @DISEASE$ that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+68d533434818187f16768bf89cff6764277a6d91	@DISEASE$ (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+f1c994f69634d8a4a24f874e699a4efcdd96b36f	Woodhouse-Sakati Syndrome (@DISEASE$) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+674985dbbf7d1aae9bf4bcd87259e99246ba029b	Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$ and progressive extrapyramidal defects.	false
+5b66ff2f07197c8c9693d0f6bbe8fb4c977059cd	Hypogonadism, alopecia, diabetes mellitus, @PHENOTYPICFEATURE$, and extrapyramidal syndrome [also known as @DISEASE$ (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder.	has_symptom
+d58d7e6969730da3b75470f0318df60e6c34779a	@DISEASE$ (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	has_symptom
+ac5c7b9318774cc5812c4aeb7384ac6ac53a850c	@DISEASE$ (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects.	false
+b122a88a5ba6cf375f439526d5213b5b8a0ef92e	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, @DISEASE$, diabetes mellitus and progressive extrapyramidal defects.	false
+1ccb5ca44e5f9c13b151c8259f867ae64ed824e2	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, @DISEASE$ and progressive extrapyramidal defects.	false
+3e4fe4a88bb52d200c914c79f3864083688b60e0	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects.	false
+65038a1390407ae790b85ab1244955f7bc2a7c32	@DISEASE$ (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), @PHENOTYPICFEATURE$ and extrapyramidal signs, not described previously in Israel.	has_symptom
+f7769b8ab7d850cfa87a6ad40f8051ff92d93cbc	@DISEASE$ (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @PHENOTYPICFEATURE$, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels.	has_symptom
+d50b661a9f7fe2d43c04448de920a8aaa2e71096	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+e95b6cdcfcd9a8f3786e8c48d192f7d0abc0d2b8	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, @DISEASE$, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+329e1aa272cdddd9c093a0746b5a97441e1331fc	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+5c394822e5a860bdc16f6ef3d6d12e4134d95652	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+89b1eada1d43db6fc03a20d9c43c6933bf477f52	@DISEASE$ (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+2bbdb2e91dc49eb28eff3ec80c05c1fab9a053b9	@DISEASE$ (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, @PHENOTYPICFEATURE$, hypogonadism, alopecia, and diabetes mellitus.	has_symptom
+e2ede4e5eea4b6a6b84fd73dec4fe47f7f774a49	Hypogonadism, alopecia, diabetes mellitus, @PHENOTYPICFEATURE$, and extrapyramidal syndrome (also referenced as @DISEASE$) is a rare autosomal recessive multisystemic disorder.	has_symptom
+ec199bac197803b3cc2275fc4e1b87952931f263	Our cases were different from Bethlem myopathy, because the age of onset was late and @PHENOTYPICFEATURE$ were mild in our cases, as compared with @DISEASE$.	has_symptom
+9fa34c8c48ee763e26c1507239fd5a28a86bc58e	Our cases were different from @DISEASE$, because the age of onset was late and @PHENOTYPICFEATURE$ were mild in our cases, as compared with Bethlem myopathy.	has_symptom
+1b3421a95094e6d83246a1ccdec1ed3ee8b4b6b4	@DISEASE$ is characterized by a combination of proximal muscle weakness and @PHENOTYPICFEATURE$ of finger, elbow, and ankle joints.	has_symptom
+cdd38e465a61b354c829c9a204898cd37e88c3b7	@DISEASE$ is characterized by the combination of proximal muscle weakness and @PHENOTYPICFEATURE$ of finger, elbow, and ankle joints.	has_symptom
+9447d8494400415e908796c60d595cc14deab70f	@DISEASE$ should be considered in the differential diagnosis of UCMD, even in patients without fingers @PHENOTYPICFEATURE$; overlap between Ullrich and Bethlem phenotypes can be supposed.	has_symptom
+0f313ba6b524026afcd71da8915420e6657e0655	@DISEASE$ is an early-onset benign myopathy characterized by proximal muscular weakness and multiple @PHENOTYPICFEATURE$.	has_symptom
+1c81757f0edfcbb57b1a7bed3e5477dea8f00077	@DISEASE$ is an early-onset benign myopathy characterized by proximal @PHENOTYPICFEATURE$ and multiple flexion contractures.	false
+c211dd822c01ceb2e2076930e2c1eaa3a779c7cd	Bethlem myopathy is an early-onset benign myopathy characterized by proximal @PHENOTYPICFEATURE$ and multiple @DISEASE$.	false
+4a1ede47578562afbb43d11af8ba53bd2255402a	Bethlem myopathy is an early-onset benign @DISEASE$ characterized by proximal @PHENOTYPICFEATURE$ and multiple flexion contractures.	false
+169d6505f4babbd277f430d59d2f372f4c07330f	@DISEASE$ is caused by dysfunctional collagen VI assembly, leading to varying degrees of hyperlaxity, @PHENOTYPICFEATURE$ and muscle weakness.	has_symptom
+4b344aa7c0044148fd71f80ccea5916bc10c3593	Manifestations of @DISEASE$ are quite variable, so either @PHENOTYPICFEATURE$ or weakness may be lacking, and no phenotype-genotype associations can be brought.	has_symptom
+e330acf40ffc69c5b316e1ab7e005aeaa1934175	@DISEASE$: An autosomal dominant myopathy with @PHENOTYPICFEATURE$, keloids, and follicular hyperkeratosis.	has_symptom
+628fac1d49aa8c267a98f60e76b30822069976ef	@DISEASE$: An autosomal dominant @PHENOTYPICFEATURE$ with flexion contractures, keloids, and follicular hyperkeratosis.	false
+a6fbd7ef34f50c5d4c148c98e6e9a60fb3c18698	Bethlem myopathy: An autosomal dominant @PHENOTYPICFEATURE$ with @DISEASE$, keloids, and follicular hyperkeratosis.	false
+35335d6772b35826aebd46680052fdd177f0595e	The @DISEASE$ is a rare autosomal dominant proximal myopathy characterized by early childhood onset and @PHENOTYPICFEATURE$.	has_symptom
+a36b2dc83acca456ffcc6e93f14fb4a35ec040a6	@DISEASE$ is a mild neuromuscular disorder with proximal muscular weakness and early @PHENOTYPICFEATURE$.	has_symptom
+481c73696e417e6ab853447c04c22ccb871b6258	@DISEASE$ is a mild neuromuscular disorder with proximal @PHENOTYPICFEATURE$ and early flexion contractures.	false
+e019eeb8b09242e0e2184646d831c42d6f52e70b	Bethlem myopathy is a mild neuromuscular disorder with proximal @PHENOTYPICFEATURE$ and early @DISEASE$.	false
+e541082b9bfe7ff04bbce2b1bfdc19b5acc87477	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	has_symptom
+5ffe20f3025686d7b8d79efd9dfb7bb646f88ea9	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+1c4f8e0928fd1f46bd34f6ddc188e14750718799	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+f1ec9800b88110412305f70d901692d934b7ff8d	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+642635e72d34308e9488dcd5e5c80404e77e9592	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+853d86b683532ed3286a5a11ce485c20edd67c0c	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+e48455b8e8e3a0039f90b113e19ad87636d63063	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+febb497808bae9075e4a0a2aac8bf332fb1c6df5	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+bbc5bd1f2d5a01d5d8559aa1ac4d81e70e8fba72	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+d6f05041b48e66408543f1e47752ed8080015e4c	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+7f3d5d190d9668350dac5bd6757ca715814c9f93	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+331b1868024f2f5422e6d3f983e504f44bfae161	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @DISEASE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+2a2ec588c7b648c57818e6d37989d915fff88d9f	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+a283d5e210a06879fe2e02c386a18bee9e9d223a	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+b9c5ac6913fb88cd986ed56bc7e199df297c72ce	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+0e77ea6c3a99dcd14f6079c6502a461cb7a2f828	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @DISEASE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+6a38a48753d21867c2d758147a2ead470b25f3fc	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+465e646c65b1107131f10efbd579d192fa2a20f3	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @DISEASE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+b1534c22e8207fb5b5e4f233d1f4f25be438bdc4	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @DISEASE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+aa4399a3e0b7b6baedd8720b5543ce17273d5e3e	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+c7db33430e3776ea2069b80d9da0383ef3ba5cc6	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+24d816e1a34cbceb4dced7292018a75da59d138e	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	has_symptom
+13a8bc3cdf23f63dee297d91595f2c7f87fb7a39	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+a52b56a484526ce90ac967e9f5110e4140e9f569	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+e7c253af8451b5defd8104929dcf01138e307b97	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+3cc73fc40f7645c1c2c46f3b7f4704f90822f025	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+9b95089f8fc1448fde17687971e719f43b0383e3	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @DISEASE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+08c5b59a8dcd58cc2d10e21f5942a843f8bc7f5a	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+3207aec90a52a3e7c1ec48c0dd6f36f121526c96	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+1e42655e51d701e5798f4b82572bf591f41ddb5f	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+f5fac16694fbd159bd1b4885859b3480b507d236	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+249cb607dd7908bea0a5f4a3c5c49aa234ef4bef	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, @DISEASE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+75cad5ed0b031d7cc99a2e7451e1aad36ac5e828	@DISEASE$ mutation or haploinsufficiency in Cep57 impairs @PHENOTYPICFEATURE$ suppression.	has_symptom
+e6b10efaeb00725899c1097dd295f01543e1d5b0	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable microcephaly, @PHENOTYPICFEATURE$, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	has_symptom
+ba44972d5717bf303755bfa8a739a88736ef3863	Bohring-Opitz syndrome is a rare @DISEASE$ characterized by distinctive facial features, variable @PHENOTYPICFEATURE$, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+9f2ab78c33d6d2380e8394d40f32d274dc166bbe	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable @PHENOTYPICFEATURE$, @DISEASE$, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+e236e96719e7f5c6d550bbe3f2375ee1bf2116ef	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable @PHENOTYPICFEATURE$, hypertrichosis, nevus flammeus, severe @DISEASE$, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+1d5e3dc937b02d2ce6b66594d1bd7cbd2a2b71b3	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe @DISEASE$, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+7450e75fd01a4a4380dbfa1732d3eb6290f624ce	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, @DISEASE$, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+e3c1bc28c6fc2cfd521b81c0b65b0bd570f668e0	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+d440acfc4821e482d5c48c24380ae9ee2a020934	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable @PHENOTYPICFEATURE$, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+127a8546bf6e10fd0917a9e4f71571757a1e3529	Bohring-Opitz syndrome is a rare @DISEASE$ characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+239214c273ea2db88a804f142a1bb001a15ff3ec	Extreme microcephaly, severe growth and mental retardation, @PHENOTYPICFEATURE$, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	has_symptom
+fc05b24e5cb6e1a0349d97a352fc124d0d0a6ee3	Extreme @PHENOTYPICFEATURE$, severe growth and mental retardation, @DISEASE$, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?	false
+04426c9206b60f669c52d93bc07aacc55c9319a6	Extreme @PHENOTYPICFEATURE$, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	false
+700b30347063a3119109b6b47402b2a48720272c	Extreme microcephaly, severe growth and @PHENOTYPICFEATURE$, @DISEASE$, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?	false
+b9581c0fa10cb785aee2c20039b2d116794f7c71	Extreme microcephaly, severe growth and @PHENOTYPICFEATURE$, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	false
+63d1952a8c9e8fb483d189f23a37725aa85ca456	We present a female infant with aniridia, bilateral ptosis, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, @PHENOTYPICFEATURE$, mild unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of @DISEASE$.	has_symptom
+cfddbfa6e32fbbd710392dfbd92d8cda81f9cda2	Post-@DISEASE$ syndrome causes variable musculoskeletal manifestations including pain, @PHENOTYPICFEATURE$ and fatigue.	has_symptom
+4189b8bb291bb6cbdb283e4cdb67cdef1213063b	@DISEASE$: a new organic aciduria, associated with mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+b195b5581e005bef866cdd684fab0c295bcdf76f	Fumaric aciduria: a new organic aciduria, associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+68597d7b38f19bdc1588ab0536a1e122e263281d	@DISEASE$: a new organic aciduria, associated with @PHENOTYPICFEATURE$ and speech impairment.	false
+455ac20ba5da6f832dce28f90aa8c2089833ebd4	@DISEASE$ (familial lymphedema praecox) and @PHENOTYPICFEATURE$: report of a family and review of the literature.	has_symptom
+833d4153ee73093dcc763d4160d6d462552640e9	@DISEASE$ is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, @PHENOTYPICFEATURE$, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions.	has_symptom
+42365d0099d52bc55437e916540d826ccdff70b9	She also had @PHENOTYPICFEATURE$ and a saddle nose, leading to a diagnosis of @DISEASE$.	has_symptom
+066e1481a9b77fa636c57fd90e736141f406705d	@DISEASE$ is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and @PHENOTYPICFEATURE$.	has_symptom
+e2019fca7685da616f1838a99e0a6070707311a8	@PHENOTYPICFEATURE$ and recessive @DISEASE$ in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations.	has_symptom
+755ae569bf01f0414390120b1864ba7ae3d05d3d	In each family, there was an index case with a clinical pattern of @DISEASE$ associated with @PHENOTYPICFEATURE$ (type II).	has_symptom
+ce67ab0b3e956ba32a82c15ff0e7f34e19de6b6b	Consequently, patients with @DISEASE$ accumulate C27-bile acid intermediates, pristanic and phytanic acid and display sensorimotor neuropathy, @PHENOTYPICFEATURE$ and relapsing encephalopathy.	has_symptom
+8cc935799f0b653be845055aacc3c8f5aa78d0b0	Mutations in the TWIST gene have been described as being responsible for the @DISEASE$, an autosomal dominant craniosynostosis associated with @PHENOTYPICFEATURE$ as well as other disturbances of the facial skeleton.	has_symptom
+bdaa374a3353be97d4612cffc52d96c015ca7722	A case of fatal familial intrahepatic cholestasis (Byler disease) developed a neuromuscular syndrome similar to that in experimental vitamin E deficiency and @DISEASE$, and died of hepatic and @PHENOTYPICFEATURE$.	has_symptom
+aead9d43c5fed8c70c0d5d61ab80b851cc1f1910	A 55-year-old Japanese woman with @DISEASE$ associated with hypothyroidism was admitted to the hospital because of orthopnea and @PHENOTYPICFEATURE$.	has_symptom
+7f4c8256b6dcb562271ce81c0368d6af70d90b36	@DISEASE$ presenting with congestive @PHENOTYPICFEATURE$.	has_symptom
+d95a323f7fa668220a2459d020928681953bad04	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, @PHENOTYPICFEATURE$, hypotonia, variable brain malformation, and facial dysmorphism.	has_symptom
+8ecb3a1a375c53f82ec4b181977f8a469547719e	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, @DISEASE$, hypotonia, variable brain malformation, and @PHENOTYPICFEATURE$.	false
+b28a792dc39a3d88c7a6598371f13b292937bd4d	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely delayed speech, @DISEASE$, hypotonia, variable brain malformation, and facial dysmorphism.	false
+ee5a4ea487d692ebaad0780641c23517ca3cace9	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, growth retardation, hypotonia, variable @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b802b87e8cb167adc017c1f3eaf54f214a47e37f	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, variable brain malformation, and facial dysmorphism.	false
+444856e9b0f6f84edb5e0237c5da96135a4b8678	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and @PHENOTYPICFEATURE$.	false
+eb446fb7953df760edddeae1f424b043d322f151	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely @PHENOTYPICFEATURE$, growth retardation, hypotonia, variable @DISEASE$, and facial dysmorphism.	false
+213a40092ef436e543e0863a1d190dbd495cef10	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism.	false
+97b056dde2195f0f6bb2cf27761b38f36d9fe55a	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely @PHENOTYPICFEATURE$, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism.	false
+1512121010a26ac5964f72ace19bec0ee6dc1f72	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely delayed speech, growth retardation, hypotonia, variable @DISEASE$, and facial dysmorphism.	false
+52721b13cf6295ac88028a34678d08982b50522b	In @DISEASE$, most cases were discovered incidentally by asymptomatic proteinuria or hematuria, while H-S nephritides were associated with systemic symptoms such as abdominal and @PHENOTYPICFEATURE$, in addition to purpura.	has_symptom
+663ffe2dca5a680feb562dc695dca8a6f88346c0	@DISEASE$ presenting as @PHENOTYPICFEATURE$ and dementia.	has_symptom
+79ee3c2399083f023e72fe3f717ad8037b0fdeb8	The pathogenesis, clinical manifestations, and management of @DISEASE$ and myoglobinuric @PHENOTYPICFEATURE$ are reviewed.	has_symptom
+d3d72c9a2989a04f7c0ce372a1256cf22c9dd43d	Although a recurrent heterozygous mutation (p.Arg1715His) in CACNA1G is known to cause adult-onset @DISEASE$ (SCA42*616795), gain-of-function mutations in this gene have recently been identified by whole exome sequencing (WES) in four children with cerebellar atrophy and @PHENOTYPICFEATURE$, psychomotor delay, and other variable features.	has_symptom
+08df4c420f544a88cc5bcfdb23f8ee048f3311de	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and @PHENOTYPICFEATURE$, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	has_symptom
+fbed92c624d3ee3b2b5f8dfcfa1713f7cdebc82f	We present the case of a young woman with the following features: @DISEASE$, dwarfism, @PHENOTYPICFEATURE$, nail and dental abnormalities, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+83fa76c7744bb0229671f085866447b0313bf377	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, @PHENOTYPICFEATURE$, nail and @DISEASE$, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+d5ca68d1b38bd4695ce54e029d083a940dfa4820	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, mental retardation, nail and @DISEASE$, @PHENOTYPICFEATURE$, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+1198801e83206097876ecb5daaeb5e21345f3f4f	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, mental retardation, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate @DISEASE$, and hair shaft abnormalities.	false
+ceed548df23ac85ff3d17e75ef130bd796c3ebd3	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+1a3f81f9d550bfabb30546c654915d182da15444	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, @PHENOTYPICFEATURE$, nail and dental abnormalities, unusual facies, poor sexual maturation, punctate @DISEASE$, and hair shaft abnormalities.	false
+210895fff4ef7abb8b93fde2af65b94ff08509ba	A patient with @DISEASE$ associated with Hirschsprung megacolon and Marcus Gunn @PHENOTYPICFEATURE$ is presented.	has_symptom
+0299ecc20304e8646a196c4f63b9b8209afa10d1	Mutations in C8orf37 give rise to an early or adolescent-onset @PHENOTYPICFEATURE$ @DISEASE$ or RP phenotype with early macular atrophy.	has_symptom
+95687691e6c3570d04235c8a1e85dd32ff0fb5d5	Mutations in C8orf37 give rise to an early or adolescent-onset @DISEASE$ CRD or RP phenotype with early @PHENOTYPICFEATURE$.	false
+336af139472dbcda4cf87fe0af3b782f87e7de4e	Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive @DISEASE$ or RP phenotype with early @PHENOTYPICFEATURE$.	false
+927c1bab28acdc0a447d63be08a81b4bce7fc547	The majority of the genetic causes of @PHENOTYPICFEATURE$ (ar) cone dystrophy (CD) and cone-rod dystrophy (@DISEASE$) are currently unknown.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+d5795d35560e0f6f38e83e53d90f5e1658f72faa	These results, taken together with the absence of cataracts in 9 patients with partial @DISEASE$ render less certain the cause and effect relationship between partial galactokinase deficiency and the appearance of @PHENOTYPICFEATURE$.	has_symptom
+d87ec76d6d45881d75353b276a1ace18a04e38e3	These results, taken together with the absence of @PHENOTYPICFEATURE$ in 9 patients with partial galactokinase deficiency render less certain the cause and effect relationship between partial @DISEASE$ and the appearance of cataracts.	has_symptom
+33cfdd44f9ef538e3c5fb050e7fcdf22812d73b8	These results, taken together with the absence of cataracts in 9 patients with partial galactokinase deficiency render less certain the cause and effect relationship between partial @DISEASE$ and the appearance of @PHENOTYPICFEATURE$.	has_symptom
+40786bff31ceebe4bc7818e4d221084a40ccbf20	These results, taken together with the absence of @PHENOTYPICFEATURE$ in 9 patients with partial @DISEASE$ render less certain the cause and effect relationship between partial galactokinase deficiency and the appearance of cataracts.	has_symptom
+f9f7bd8f748064d1378cdb7950ebff0965be8303	Galactokinase deficiency (@DISEASE$), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral @PHENOTYPICFEATURE$.	has_symptom
+c9c2d6362d1236ad46da6ed281910ac0cfabe074	@DISEASE$ (GALK-D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral @PHENOTYPICFEATURE$.	has_symptom
+b7a55795b428c50be0a1fdc226a856ed9a8167b3	@DISEASE$ @PHENOTYPICFEATURE$ in identical twins.	has_symptom
+53e144da36ea81935570250dba5ba58d2f8b14a8	[@DISEASE$, cause of hereditary @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+8dc63f86f1035c8edd92cf65ad782ab0bc138979	@DISEASE$ and @PHENOTYPICFEATURE$ formation.	has_symptom
+5c098c09793f86fb1f163e2fed4cdf2d2862373b	@DISEASE$ as a cause of @PHENOTYPICFEATURE$.	has_symptom
+35ffd3754ceeb2612a35620efd4f8c0dea7b65cb	@DISEASE$ induced @PHENOTYPICFEATURE$ in Indian infants: identification of 4 novel mutations in GALK gene.	has_symptom
+a297bc7708d52ee18e66136c3b8a5377ae1a1485	@DISEASE$ is an extremely rare form of galactosaemia, and the most frequent complication reported is @PHENOTYPICFEATURE$.	has_symptom
+76d9c17de4baafa4ccf086589c16f33eb7203b05	Prevalence and clinicoradiological features of @DISEASE$ in a Japanese @PHENOTYPICFEATURE$ cohort.	has_symptom
+a494e43dc6e01afc9e8dc3177b0a8d459da85d95	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	has_symptom
+e2df4436d19a0a335acdddc617afb4d41890e198	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@DISEASE$, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+fbbce8596697d8d1697a28d5d5a6df16a55f0184	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or @DISEASE$, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+732c5937a1d98fdf2e7f7bf514cd1261524db872	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including @DISEASE$ and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+c83ba7956bcd5d6abe317010c9e8ecf65fad3ac4	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+fb7c6579f33d808eec7e7559034ccf217f735f0a	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+5741a16d05225f9ea4175235bd552bae5c029e4e	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including @DISEASE$ and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+1a33a28cd72aaa160ad0e9402e13e7b2ccbf5a7d	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+63de8fd5b629fd43f1f2d07c16ddaa0cb96b0c7b	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+02e0f70743b79803c3cae733134205d44ceab88d	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or @DISEASE$, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+6ce3a93b5e1b2204c743c8b95365d6ae36126a6a	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@DISEASE$, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+bbccae0019d0077f163550cea24595708e1d0701	The oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral @PHENOTYPICFEATURE$ dysmorphism, and hand/feet malformations.	has_symptom
+d4210e0913e47d743bd8d30083e1d36b753172bc	The @PHENOTYPICFEATURE$, unilateral in all four cases, were similar to those observed in the @DISEASE$.	has_symptom
+aca8d992d113ca350c2f35b83138a19721cd37c6	Here we report a case of @DISEASE$ with facial angiomas, seizures and @PHENOTYPICFEATURE$.	has_symptom
+830b2af3ccb606c169570687a21a5029ad86ac96	Here we report a case of SWS with @DISEASE$ angiomas, @PHENOTYPICFEATURE$ and intracranial calcifications.	false
+413426e5bf849d9eed2e1672be6d7569326eddaf	Here we report a case of @DISEASE$ with facial angiomas, @PHENOTYPICFEATURE$ and intracranial calcifications.	false
+6dfa6d5de74d167a8d1499d3d81a0641614ab11e	Here we report a case of SWS with facial angiomas, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c3e3c95ccab8addbf309a9c51d317dd1d59a2f25	@DISEASE$ with bilateral facial nevus and early @PHENOTYPICFEATURE$.	has_symptom
+b4ffcd791fbd45cd9f5b6849c4fd2e7273fdca17	@PHENOTYPICFEATURE$ in a neonate with the @DISEASE$ and additional problems.	has_symptom
+0c8903691423d9a723db1f6a24f04ba17350e3db	@PHENOTYPICFEATURE$ simulating @DISEASE$ is rare in association with intracranial infection.	has_symptom
+756c497f5e6dd22efc29d7cb6e57176f978f4d46	A case of @DISEASE$ with epilepsy and @PHENOTYPICFEATURE$ at the neonatal period.	has_symptom
+24dfb1cb5505c74d9a576c3fb4743cad973a9552	Clinical and metabolic correlates of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+e0f7833021707584afe7215e35e6f89c16a7dbc8	@DISEASE$ with bilateral @PHENOTYPICFEATURE$ but without a facial nevus.	has_symptom
+513d92fe632dad44459d4e9dd30ec763abdf694c	Sturge-Weber Syndrome (@DISEASE$), also a mesodermal phakamatosis, is characterized by meningofacial angiomatosis with @PHENOTYPICFEATURE$.	has_symptom
+36b64703102151b6b58f160d360b3b068167adb5	@DISEASE$ (SWS), also a mesodermal phakamatosis, is characterized by meningofacial angiomatosis with @PHENOTYPICFEATURE$.	has_symptom
+d698891e5f29e1f6865a0e8cf4b351d4a8eba144	To evaluate clinical and metabolic correlates of @PHENOTYPICFEATURE$ in children with Sturge-Weber syndrome (@DISEASE$).	has_symptom
+e7eea2dfba4232c8911c7b65818cbd4a0cca90b4	To evaluate clinical and metabolic correlates of @PHENOTYPICFEATURE$ in children with @DISEASE$ (SWS).	has_symptom
+7611b01c1365dd077fe5d9ed2a4773f29a4ddb3f	We identified 49 studies with adequate available data on normal or intermediate C9orf72 repeat length, involving subjects with @DISEASE$, Parkinson's disease (PD), atypical @PHENOTYPICFEATURE$, Alzheimer's disease (AD) and other aetiologies.	has_symptom
+e8057859126af7bbde789c0f237d2d61a9f7cdba	@DISEASE$ (PHTS) is a highly variable autosomal dominant condition associated with @PHENOTYPICFEATURE$, overgrowth, and tumor predisposition phenotypes, which often overlap.	has_symptom
+a204caaa99cf154f1fad071acb0d54b5dff84af1	PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with @DISEASE$, overgrowth, and @PHENOTYPICFEATURE$ predisposition phenotypes, which often overlap.	false
+57878bd5df33d68c09d1eec85465cf3eeea059b3	@DISEASE$ (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, @PHENOTYPICFEATURE$, and tumor predisposition phenotypes, which often overlap.	false
+d0de7cd3cee2f6411fb6e5fdf34064035c71ce37	@DISEASE$ (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overgrowth, and @PHENOTYPICFEATURE$ predisposition phenotypes, which often overlap.	false
+9e3fd8693f75ee14ad60455680c26dab3c04f8ad	PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with @DISEASE$, @PHENOTYPICFEATURE$, and tumor predisposition phenotypes, which often overlap.	false
+c85ac979cf0b76c64d6c1e8ebf2890b221897172	@DISEASE$ patients with destabilizing PTEN mutations and proteasome hyperactivity are more susceptible to develop neurologic symptoms such as @PHENOTYPICFEATURE$ and autism than mutation-positive patients with normal proteasome activity.	has_symptom
+2ca2fbba19201129e1e506431d6baacaedd50e79	Peripheral @PHENOTYPICFEATURE$, along with radiographs showing antral-pyloric and duodenal narrowing, suggested the diagnosis of @DISEASE$.	has_symptom
+8d834abfbed1d78f88c44550e3e56de30c838c20	@DISEASE$ is an uncommon chronic disease, of unknown cause, characterized by eosinophilic infiltration of the gastrointestinal tract, which is usually associated with peripheral blood @PHENOTYPICFEATURE$.	has_symptom
+b6fd6b16a9fd5b397426af7183e12e0930f9d949	It appears that the rare TTR Val 107 variant causes a peculiar familial amyloid syndrome characterized by both widespread systemic @DISEASE$ and central nervous system deposition sufficient to cause @PHENOTYPICFEATURE$, pointing out the extent of TTR amyloidosis phenotypic heterogeneity.	has_symptom
+3281e7803c63931f19e6c8b3101c34fa2013d326	@DISEASE$ type Maroteaux (AMDM) is characterized by extreme shortening of the forelimbs and @PHENOTYPICFEATURE$.	has_symptom
+13d29ec307384fcd9c8947f1adcb360ef21a0457	@DISEASE$, type Maroteaux is a disorder characterized by @PHENOTYPICFEATURE$ predominantly affecting the middle and distal segments of the upper and lower limbs.	has_symptom
+818d6057bee47b49ee88c5b5f7ec0e78c252a6db	@DISEASE$ is an extremely rare congenital disorder characterized by craniofacial malformations, @PHENOTYPICFEATURE$, cardiac defects and obesity.	has_symptom
+8da2f3ef5857e83a4148ab4d4813fccad15fe3e5	Carpenter syndrome is an extremely rare congenital disorder characterized by craniofacial malformations, @DISEASE$, cardiac defects and @PHENOTYPICFEATURE$.	false
+9665b672c5950d15165ca62c42caa72e583608ac	@DISEASE$ is an extremely rare congenital disorder characterized by craniofacial malformations, syndactyly, cardiac defects and @PHENOTYPICFEATURE$.	false
+0f138937c547d1e353f2f61704277a0ffc3214da	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	has_symptom
+1a74046a1bd93f67fc2d4abe1042e3c9a6f6a0dd	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, @DISEASE$, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+26e1f0bccaa65ff5de66b130c6de64f51fd50110	Acrocephalopolysyndactyly or Carpenter syndrome consists of @DISEASE$, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+cab1eaa459c490c2800be6fdef808b6979102356	Acrocephalopolysyndactyly or Carpenter syndrome consists of @DISEASE$, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+5a40f187c40976bc8124a77aa46e04dba81151ae	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+84cf54c709df4fc096b5a0d9f8be5fb58eb0012e	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+d5fdff4612dbae744f8400abbbdef6f11e3b4da3	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+a7ff2b7e3643b9a31a8aaf7b9ada1e34fa8bd872	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+ad78a7f61f61a84890d4a8260d33607dbad22864	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue @DISEASE$, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+04829c9df2edd90d325d9f64fd8f2c73e1c62920	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, @DISEASE$, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+d7bfb431418977948becb3a9dffa1ad9f19c819d	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, @DISEASE$, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+9a9c37c8b6ae070d98a64b55b3bb196cd7e212b4	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	has_symptom
+3828218b70220b6ba94a1314ed192c688f74e001	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a12eb2f95744cffb6b2953bb8210aac5e8b9f46a	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+29d1b86de6806218a19b8b189c23e58aa98bddc9	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+8889a83fae933949709236c678d6b728b3fe1115	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+4c759c45ac8b8c17f7138539c587595805ddc7f2	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue @DISEASE$, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+407fb7e2a3ba3bed3c1b19fac7481e0464e89101	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @DISEASE$, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+2846caef792df303906a16307ad2d1fdc2625bc7	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+841c7d93af4b33044c391243a4a8517a7769937f	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a99640fa66514459000ee0bcc49aeb40deba8c54	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9a569857a8accf89d9c4b4d3b6370a79fa3e0454	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9e3618aeddd1c489f0106ed3e19908cc2025710d	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @DISEASE$, obesity, hypogenitalism, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+b8d441bbd89fd68e663ddc4f7c5a320c5b7140ab	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, @DISEASE$, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+974549c7f14fbc651c6c39008a2a966ef34bc73c	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+adf8d1ac558ae39154cf82bbb0ee7c29f076ed31	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+fea7a10080cfad9fb1b80c9c35891397dc9dc88f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+dac7489a843d0ca24db83f35affb5093efcfc6a5	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+19b4a2f9ee76becd64b80dcba0f63b2a3b4593f3	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+336ef8a443129b42a61ab2d64597aadaeacdebc9	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+a6cffcddf838bb176e660c6c6d21b45738706759	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+da68ecc327f7465db1554b3ef3641bb63d8ef119	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+1b9a2f98d5f34dd4afd813cbb8f513ed90fe5850	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+711c6cc698f1d50c2dfe1b67ae9003dbd7af692f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+0fa332ac3a238f848632ad1cfc83027039d1a38d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+d8b9d4e0cc146273a59f8a399ffeb0ed38baf3b4	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3ab26b2e3d68f3a7f504cba34363659a1e4f4c76	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+bbf2d1234123155da1bb2b650cf58244e7e8f77f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+e9cb9722c55058b19af223f1df5bd63af492ca17	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5c764caefaf508a2f457594bba319c22bd8be6d9	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b0be8f5df9cb498a5b6b7783c6d2fc9b18edd364	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+363718c123f93a2a25d8c205454b7cca81f0bb80	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+d37cc1211b5815e4e68b03ccbb8416a678c1c714	@DISEASE$ consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	has_symptom
+811b5705d079c9ae86a1fb736fbb4e7000c60255	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+875adce164987e0e289db1f6cbdf33df27927052	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+55b9026ab9a23e7f95659aa742dda09ee0d61bff	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+de4aeda4df69279b16e6c589ad52c32a278cf164	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+8c512e507d6a4e00ce72292413844bb83ec63fa5	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+7775477cb2c8ae41452731567547ad9eef2bc5f7	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+60a8fb3b173942310c9690378df4b7941d3398aa	Carpenter syndrome consists of acrocephaly, soft tissue @DISEASE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+56b778c36454e5284ed52600ccfcc74a753cedc7	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+7b46f7b0f6c41f7ef179f2f25066d723973853dc	Carpenter syndrome consists of acrocephaly, soft tissue @DISEASE$, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+6e2ac98e6aeffe7f499c1794a32cdbc17169a8b9	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+2d341d0597bd63e830832005c85de6626f72b54e	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+1998bd7ebc3b8c31a967283b58403518f90cbe78	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+44d669a9eeb70a8a3b7a53726ce9639a0e19b4de	Carpenter syndrome consists of acrocephaly, soft tissue @DISEASE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+0c8ca1f8e04bb5b39c4025995dc2c013b85d8527	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+8b18f0429917349a8c489adaafa0655ed2dad78b	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+e4d4b6cb72cc5cbb36cb667ab43790156469c152	However, in the three patients reported here, the facial dysmorphism was distinct from that seen in @DISEASE$ and the @PHENOTYPICFEATURE$ was more marked.	has_symptom
+1da5c675ddf414f62aaa31fd6b22e6dabc315851	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+4afbe64566f10febab36cd178a686559f97bd2b8	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+aba87a6fd1434f39e3c52983350abf38323ddfc7	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+b9c73915612849cc092a234c174b6189e2bd5657	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+6675d24447e9325f5dd4dee93a1bee69d3dd32a3	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @DISEASE$, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+93edb6eaff2330fa45e044b28b6f37a29356f9f5	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d2664b1c34552e625b4b76ecf1144fe3b35b75f0	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, @DISEASE$, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d3022be9835c318e2b0e9801d56198259c9dba8b	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+ee95a6d0738586542efb1aedabfe2554dd34f5e7	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+548cc059929f1aad0a776da76354cbc3d60006d3	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d0e17586316677438b6912a2dd9aac494d3fdaef	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+792228053059b9f1811361f20104f938a847b857	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+8c12530de9b455273df9b4b0d5c11b4b4f2c2f32	@PHENOTYPICFEATURE$, symphalangism, and facial abnormalities: the @DISEASE$ in a Japanese family.	has_symptom
+96f0022713a08e3e7ee9e12727824dda2366c1aa	@DISEASE$, symphalangism, and @PHENOTYPICFEATURE$: the WL syndrome in a Japanese family.	false
+771a43152ee933cd19581c51ab7131e6f1c6644d	Conductive deafness, symphalangism, and @PHENOTYPICFEATURE$: the @DISEASE$ in a Japanese family.	false
+39c239b3217a14c6c5284efc7b4f057e10152ef2	We present the case of a mother and four children displaying signs of @DISEASE$ (SYNS1) associated with @PHENOTYPICFEATURE$.	has_symptom
+d6ef37aaf720674d3cbca2ec9e3e7e67e301e08a	@DISEASE$ (SYNS) is an autosomal dominant skeletal disorder characterized by facial dysmorphism, progressive fusion of multiple joints, and @PHENOTYPICFEATURE$.	has_symptom
+32f141bfaf9ece9e0450e12ed18a18949bb38902	Multiple synostosis syndrome (SYNS) is an autosomal dominant skeletal disorder characterized by @PHENOTYPICFEATURE$, progressive fusion of multiple joints, and @DISEASE$.	false
+8b47083d64c60cebc1bccd8c6d36bb5f542aca61	@DISEASE$ (SYNS) is an autosomal dominant skeletal disorder characterized by @PHENOTYPICFEATURE$, progressive fusion of multiple joints, and conductive hearing loss.	false
+65a69a3a57f12fd655d2fb21daa2c7ecc2ab3568	Congenital amegakaryocytic thrombocytopenia (CAMT) is a very @DISEASE$ bone marrow failure syndrome presenting with isolated hypomegakaryocytic @PHENOTYPICFEATURE$ at birth developing into a pancytopenia during the first years of life.	has_symptom
+54678083c2acb77b3574f9bb49b18ad9de0e621e	@DISEASE$ (MRD21) is a very rare condition, characterized by @PHENOTYPICFEATURE$, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.	has_symptom
+7e9339d0114d736122dd6c60e3b978dfe478dde5	@DISEASE$ (MRD21) is a very rare condition, characterized by short stature, @PHENOTYPICFEATURE$, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.	false
+57d6b34b013c2ce7dfb3a1d373326ef90ed83638	Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by @DISEASE$, @PHENOTYPICFEATURE$, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.	false
+3e4afa42314f29b70956b6be95de3c9a60a84693	Subcutaneous edema detected sonographically in the forms of nuchal @PHENOTYPICFEATURE$, cystic hygroma (@DISEASE$), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+5127d95fb9e9102939f6236866bf5ffe8c7cce2d	Subcutaneous @PHENOTYPICFEATURE$ detected sonographically in the forms of nuchal edema, @DISEASE$ (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+5297d1651fc162f59bc32ef1e38c993b38d1ed0d	Subcutaneous @PHENOTYPICFEATURE$ detected sonographically in the forms of nuchal edema, cystic hygroma (@DISEASE$), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+b92fd055c8b9ba4d2e458361c91880716d170c4b	Subcutaneous edema detected sonographically in the forms of nuchal @PHENOTYPICFEATURE$, @DISEASE$ (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+9f9746e795cb2da2237d7be32934afab03a2d702	@DISEASE$ @PHENOTYPICFEATURE$ detected sonographically in the forms of nuchal edema, cystic hygroma (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+b863243c3641a7618986e76cb3f775b72af6b980	@DISEASE$ edema detected sonographically in the forms of nuchal @PHENOTYPICFEATURE$, cystic hygroma (CH), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+bcbfbb7b7311bca765cf35234b735c0838b129e1	Prenatal karyotype results of fetuses with nuchal @PHENOTYPICFEATURE$, @DISEASE$, and non-immune hydrops.	false
+c83ec9672d067a8ea83a37d09e75e47addb6135c	nodules, @PHENOTYPICFEATURE$ and @DISEASE$ in the lateral neck.	false
+6183e1cb1b906e343c8b9e2df01603561973574d	@DISEASE$ is an @PHENOTYPICFEATURE$ condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and short stature.	has_symptom
+f9184124671d4ad5796b5d7658a32890617bce46	@DISEASE$ is an autosomal-dominant condition characterised by widely patent calvarial sutures, @PHENOTYPICFEATURE$, supernumerary teeth and short stature.	false
+9739e4738baed860cca9155485e6e02590518fa4	@DISEASE$ is an autosomal-dominant condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and @PHENOTYPICFEATURE$.	false
+6bedb5339b85d817a8a3981b5ca8b47e7081a7c5	Cleidocranial dysplasia is an @DISEASE$ condition characterised by widely patent calvarial sutures, @PHENOTYPICFEATURE$, supernumerary teeth and short stature.	false
+ed076328fc844e46cfb6a457327640ad70583193	Cleidocranial dysplasia is an @DISEASE$ condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and @PHENOTYPICFEATURE$.	false
+aa4d2bad3561ab40006aeef145717d0e856fe9c0	This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced @DISEASE$, including retinal detachment, corneal opacity, shallow or flat anterior chamber, @PHENOTYPICFEATURE$, posterior pupillary adhesion, secondary glaucoma, vitreous hemorrhage, and preretinal hemorrhage.	has_symptom
+25a9e8ac375d8da0ab700378a028a160007914ef	This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced @DISEASE$, including retinal detachment, @PHENOTYPICFEATURE$, shallow or flat anterior chamber, cataract, posterior pupillary adhesion, secondary glaucoma, vitreous hemorrhage, and preretinal hemorrhage.	false
+a08a8d16cb32e9ac6276c20eb2c4104ba0dcfa7a	This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced familial exudative vitreoretinopathy, including retinal detachment, @PHENOTYPICFEATURE$, shallow or flat anterior chamber, cataract, posterior pupillary adhesion, secondary @DISEASE$, vitreous hemorrhage, and preretinal hemorrhage.	false
+fd8bae851d903246a031fbf8fba31e74a2b7c1e2	This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced familial exudative vitreoretinopathy, including @DISEASE$, @PHENOTYPICFEATURE$, shallow or flat anterior chamber, cataract, posterior pupillary adhesion, secondary glaucoma, vitreous hemorrhage, and preretinal hemorrhage.	false
+9260d45bf0855fd87684e83c10a82596d2ab111f	This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced familial exudative vitreoretinopathy, including retinal detachment, @PHENOTYPICFEATURE$, shallow or flat anterior chamber, @DISEASE$, posterior pupillary adhesion, secondary glaucoma, vitreous hemorrhage, and preretinal hemorrhage.	false
+42024cc4b5d3180df7374a7a8e09e88b606794cf	To evaluate the natural history of @DISEASE$ (FEVR) with emphasis on the effect of the age of onset on its severity and on the development of late complications such as @PHENOTYPICFEATURE$ and retinal detachment.	has_symptom
+b5986f7876f3e7eca61063ce56898c92ace73d96	Fifty-one eyes of 39 infants with @DISEASE$ associated with retrolental adhesions on the peripheral retina, retinal fold with macular detachment, and partial @PHENOTYPICFEATURE$.	has_symptom
+2265703589e73cbcdd008170306a72544dcf6200	Pediatric @PHENOTYPICFEATURE$, myopic astigmatism, @DISEASE$ and primary open-angle glaucoma co-segregating in a family.	has_symptom
+f76bbad9e3387f943b7073e32e0d89ebaad28a88	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (@DISEASE$), early onset of @PHENOTYPICFEATURE$, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	has_symptom
+550edd89919cbae193d1aeae2517e997a566b75d	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of @DISEASE$, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+aa4eebb3aa661ab6153386f1324da22bd43527b1	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of muscular hypotonia, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of @DISEASE$ is described.	false
+3fbaa9c10e260a9d07221f7c51a2b66cf5eb2fab	A three-year-ten-month old boy with the Fukuyama type of @DISEASE$ (FCMD), early onset of muscular hypotonia, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+c50bad392022a9f9da2c251ebcc48216e2331f65	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (@DISEASE$), early onset of muscular hypotonia, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+f42e04feb3dd81a32e2ef3aadebf894a094e4a9b	@DISEASE$ with @PHENOTYPICFEATURE$: new feature or incidental finding?	has_symptom
+606424887f8b21ec9ea5e37822d47ee93140e30d	We evaluated gonadal function in 18 female and eight male patients with @DISEASE$ due to transferase deficiency; it was normal in the males, but 12 females had signs of @PHENOTYPICFEATURE$.	has_symptom
+4aecfb8b871c3c96a3a7ebebed1d6ad652a50e8b	Two sisters with transferase deficiency @DISEASE$ presented with @PHENOTYPICFEATURE$.	has_symptom
+2e9d740e603bcc4185bd09b5b5b7d35b24ab727e	@DISEASE$ is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and @PHENOTYPICFEATURE$.	has_symptom
+8a7c570a2ed270c5f73b8cc259f9574b32988de4	Galactosemia is a severe @DISEASE$ known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as @PHENOTYPICFEATURE$, disorders of motor function or speech, and hypergonadotrophic hypogonadism.	false
+cb59a739a0a586c9df949e684b71c519933145dd	Galactosemia is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as @PHENOTYPICFEATURE$, disorders of motor function or speech, and @DISEASE$.	false
+5de8da1f2a1afebbcf88332c925e1f119b142461	@DISEASE$ is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and @PHENOTYPICFEATURE$ in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and hypergonadotrophic hypogonadism.	false
+2cec12f2b336a075f1e3d36b5ce3690efa114429	Galactosemia is a severe @DISEASE$ known to cause hepatosplenomegaly, jaundice and @PHENOTYPICFEATURE$ in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and hypergonadotrophic hypogonadism.	false
+e2058aea5f143105c24a934a1aeaf51420599978	Galactosemia is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and @PHENOTYPICFEATURE$ in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and @DISEASE$.	false
+6fd622e3c4ddc108f17609bb51ced4ec189e392d	@DISEASE$ is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as @PHENOTYPICFEATURE$, disorders of motor function or speech, and hypergonadotrophic hypogonadism.	false
+16dce4bbd27f985c0d981f58b0eeb3cf63c88333	The main features of @DISEASE$ are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with mental retardation and @PHENOTYPICFEATURE$ associated with cortical migration defects.	has_symptom
+735d532f969511c1b1329504b98cc22917619adb	The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with @PHENOTYPICFEATURE$ and @DISEASE$ associated with cortical migration defects.	false
+551fc594a9d44043906881333f4ffdb772ccf273	The main features of @DISEASE$ are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with @PHENOTYPICFEATURE$ and seizures associated with cortical migration defects.	false
+65bbe85540e7a3ce2effdf00eb2f7a11fc9a27e6	It was concluded mutational analysis of the @DISEASE$ gene could predict @PHENOTYPICFEATURE$ prognosis.	has_symptom
+c3383b161ef0ea7d06cc7bb00f8e154cf76551d8	Immediately after, the patient presented a severe bilateral @PHENOTYPICFEATURE$ of the proximal part of both upper limbs, corresponding to an @DISEASE$.	has_symptom
+6d0f8da638f6b910f67b06505396148ecaa92515	@DISEASE$ (NA) is characterized by the clinical triad of pain, @PHENOTYPICFEATURE$/atrophy, and sensory symptoms.	has_symptom
+3fc86d8a9fc0456dade79d35bffb7a5d281b57d8	@DISEASE$ (NA) is characterized by acute onset of severe pain, followed by @PHENOTYPICFEATURE$ and wasting of the shoulder girdle.	has_symptom
+50e8ffbe83b49f1f93b858363385918c953051cc	Hereditary @DISEASE$ (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with @PHENOTYPICFEATURE$ and atrophy, as well as sensory disturbances.	has_symptom
+1660d479cfa68ac04d847535668793f4013fb064	Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ @DISEASE$ with muscle weakness and atrophy, as well as sensory disturbances.	false
+46301128c99dc535b300f5e526485b10a815d224	Hereditary @DISEASE$ (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances.	false
+2a7de8b05234a6fb4d1a37b604618542f77d6703	Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal @DISEASE$ characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances.	false
+2276405a74ec87c887ce9677c5f175a78e36a48d	Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with @DISEASE$ and atrophy, as well as sensory disturbances.	false
+ee46bd1f68aa52a595b102696ef5ecb9a9c2a5ca	@DISEASE$ (NA), which is an idiopathic disorder in the peripheral nerves, is characterized by an acute onset of unilateral pain in the proximal limbs followed by @PHENOTYPICFEATURE$ and wasting.	has_symptom
+3e30c5dea657c7200872f0259dcaa32fab327df0	@DISEASE$ is characterized by hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+e12d507ee0701d0ef91d919d8c58bd40a7dfc700	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and anosmia/hyposmia.	false
+c5c3b1c73725042218063765e8de0aad0f99859c	Kallmann syndrome is characterized by @PHENOTYPICFEATURE$ and @DISEASE$/hyposmia.	false
+6a29a5cca0d722de1d93c7cfaefba690eb1b84f1	@DISEASE$ (KS) is defined by the association of idiopathic hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+a8224c40bb37aa51bbce6e3fbb0053da1cd17b9d	@DISEASE$ (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+224ec4f6edbd322763bc1d85528cb5d578803fc4	@DISEASE$ (KS) is a disease clinically characterized by the association of @PHENOTYPICFEATURE$ and anosmia or hyposmia.	false
+5b963de81bff0d02f9ecbf4cc92b97cd778562e8	Kallmann syndrome (KS) is a disease clinically characterized by the association of @PHENOTYPICFEATURE$ and @DISEASE$ or hyposmia.	false
+e5f558b3eb5f60dbc97db157116db2263cf4473d	@DISEASE$ (KS) consists of idiopathic hypogonadotropic hypogonadism (IHH) and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+feae77ceae939fb5731f81e57db50970afb32080	@DISEASE$ (KS) is characterized by the association of hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+45d1f413519c93a33a910cc11d9387066f78c35f	@DISEASE$ (KS) is characterized by the association of @PHENOTYPICFEATURE$ and anosmia or hyposmia.	false
+9dcaf69fc0ac023923344ee6b63de3500464b287	Kallmann syndrome (KS) is characterized by the association of @PHENOTYPICFEATURE$ and @DISEASE$ or hyposmia.	false
+c3ae2507ccfbcb886dbfaaac66757a259e27029b	@DISEASE$ (KS) is a neuronal migration disorder characterised by hypogonadotrophic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+ec4345300f612dc03401bfd29f623a2f6e98255f	@DISEASE$ (KS) is a neuronal migration disorder characterised by @PHENOTYPICFEATURE$ and anosmia or hyposmia.	false
+c90f9721e753404cefb8886143cdeb8d5196eff7	Kallmann syndrome (KS) is a neuronal migration disorder characterised by @PHENOTYPICFEATURE$ and @DISEASE$ or hyposmia.	false
+8b84d1af4bf4026145615fabf199886b19aa7401	@DISEASE$ is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+5e98aea6443179317979ceb827efba7e2cf6036e	Kallmann syndrome is a disease clinically characterized by the association of @PHENOTYPICFEATURE$ and @DISEASE$ or hyposmia.	false
+70a1fffcdca0e11b455ca392618d71f0a9f57625	@DISEASE$ is a disease clinically characterized by the association of @PHENOTYPICFEATURE$ and anosmia or hyposmia.	false
+5721a5f4d670868b3cab5d7d67250175cf13352a	The patient also had hypogonadotrophic hypogonadism and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+bfa3e1a2ac06942acd9d97dbe36440dcd26a33ef	The patient also had @PHENOTYPICFEATURE$ and @DISEASE$ (Kallmann syndrome).	false
+8e8521e4c2b48b5d457d4f5881b7b4fe94f9a78b	The patient also had @PHENOTYPICFEATURE$ and anosmia (@DISEASE$).	false
+528d3c9a45c8fe780162b8726e327d04f72c54cc	@DISEASE$ (KS) is a developmental disease characterized by the association of isolated hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+47574ca0550759bb52e951e4b4656a67ab287bf6	Kallmann syndrome (KS) is a developmental disease characterized by the association of isolated @PHENOTYPICFEATURE$ and @DISEASE$/hyposmia.	false
+e6c9a64470383a9d9a7c9f66f48baae66bea42b0	@DISEASE$ (KS) is a developmental disease characterized by the association of isolated @PHENOTYPICFEATURE$ and anosmia/hyposmia.	false
+1f7348f5eafdb6ac68a775c43a609231ee1b2d69	@DISEASE$ (KS) is a developmental disease that combines hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+99780a993dccabbbc30e45f8f6f58224988a1759	Syndromic manifestations include mental retardation with hand dystonia (@DISEASE$), infantile spasms (West syndrome) and/or other @PHENOTYPICFEATURE$.	has_symptom
+f15bb682c3b8006433c2dbf833696f48b4ae3a1d	Syndromic manifestations include @PHENOTYPICFEATURE$ with hand dystonia (Partington syndrome), infantile spasms (West syndrome) and/or other @DISEASE$.	false
+30335d0249537978f6bb8e246d81539ab32358eb	Syndromic manifestations include @PHENOTYPICFEATURE$ with hand dystonia (@DISEASE$), infantile spasms (West syndrome) and/or other epileptic seizures.	false
+0c0431fb6aee675d8614b9d653bb5753da1e8f85	Syndromic manifestations include @PHENOTYPICFEATURE$ with hand dystonia (Partington syndrome), infantile spasms (@DISEASE$) and/or other epileptic seizures.	false
+d14b922c94804889c52ec575cf96e343e0255fb7	Syndromic manifestations include @PHENOTYPICFEATURE$ with hand @DISEASE$ (Partington syndrome), infantile spasms (West syndrome) and/or other epileptic seizures.	false
+4272de5962b55a3f2734400d8bc29b4fb52c440f	He had been diagnosed with @DISEASE$ in 1968, at 7 years of age, after recurrent episodes of bronchitis and @PHENOTYPICFEATURE$, and was treated with IV immunoglobulin monthly for decades.	has_symptom
+afa1235e31c34d550ba85fdb65bc75475c64756c	Among the @DISEASE$ patients, 196 episodes of @PHENOTYPICFEATURE$ were documented in 59 patients (77.6%) before diagnosis, while 36 patients (47.3%) experienced pneumonia after therapy (1.11 vs 0.58 episodes of pneumonia per patient per year).	has_symptom
+51b9e92431c129bde2b90981361bce6414638d0b	In 42 adults with recurrent respiratory infections (RRI) and @DISEASE$ or immunoglobulin G (IgG) subclass deficiency, the results of pulmonary function tests were related to factors apt to produce airway obstruction: serum concentration of IgG and IgG subclasses, various features of acute RRI (number/year, time from onset to diagnosis, episodes of @PHENOTYPICFEATURE$, etc) and type of chronic lung disease (smoking and nonsmoking related chronic bronchitis, episodic wheezing, and bronchiectasis).	has_symptom
+c7bb0b4d1ba2372e18fb084993f4462f19b05944	Patients with @DISEASE$ have frequent and severe episodes of @PHENOTYPICFEATURE$.	has_symptom
+3b186e84c7a5ff8b61a80a451a6799770a5bf501	@DISEASE$ (AS) is characterized by severe mental retardation, epilepsy, absent speech, @PHENOTYPICFEATURE$, and a characteristic behavioral phenotype.	has_symptom
+2bd3c325644876507a6b3ee0bb8ee1294e5a89b4	@DISEASE$ (AS) is characterized by @PHENOTYPICFEATURE$, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype.	false
+6ff5fff6eab4293c381ff604fbee2016ad2155cd	Angelman syndrome (AS) is characterized by @PHENOTYPICFEATURE$, epilepsy, absent speech, @DISEASE$, and a characteristic behavioral phenotype.	false
+29f765e48f53fa7d875c0c390186e7eef1cdc4ae	@DISEASE$ is characterized by severe mental retardation, absence of speech, bursts of laughter, ataxia, seizure disorder and @PHENOTYPICFEATURE$.	has_symptom
+aaae539d537d0a056debef73ba5e47222ec668a9	Angelman syndrome is characterized by @PHENOTYPICFEATURE$, absence of speech, bursts of laughter, ataxia, @DISEASE$ and facial dysmorphism.	false
+918f3a7184b6aaf23865d968918906c6159ea925	Angelman syndrome is characterized by @PHENOTYPICFEATURE$, absence of speech, bursts of laughter, ataxia, seizure disorder and @DISEASE$.	false
+94abfe5b0ff6d25c8df5981d80c1ed0bb59cde8c	Angelman syndrome is characterized by severe mental retardation, absence of speech, bursts of laughter, @PHENOTYPICFEATURE$, seizure disorder and @DISEASE$.	false
+e03f79ed9858b0fc7a802c963765c057514a5ae2	Angelman syndrome is characterized by severe mental retardation, absence of speech, bursts of laughter, @PHENOTYPICFEATURE$, @DISEASE$ and facial dysmorphism.	false
+02ca9567489ddfba235fdb401defac424d655d99	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, absence of speech, bursts of laughter, ataxia, seizure disorder and facial dysmorphism.	false
+2572cf68aad7c35fec83e0b02ec7ec25a866656f	@DISEASE$ is characterized by severe mental retardation, absence of speech, bursts of laughter, @PHENOTYPICFEATURE$, seizure disorder and facial dysmorphism.	false
+3785b875c929dce145f7caa1d5b264f98ab2fa70	@DISEASE$ is characterised by mental retardation, epilepsy, speech impairment, @PHENOTYPICFEATURE$ and a characteristic behavioural phenotype.	has_symptom
+ea320ffd8ccef4afe1c3ef05b9e125210306e5f3	Angelman syndrome is characterised by mental retardation, epilepsy, @PHENOTYPICFEATURE$, @DISEASE$ and a characteristic behavioural phenotype.	false
+f7409f6f00182769474b58ff94917db519ae8e2c	Angelman syndrome is characterised by @PHENOTYPICFEATURE$, epilepsy, speech impairment, @DISEASE$ and a characteristic behavioural phenotype.	false
+673e07aef2f13a26014240d952d225da7dafa555	@DISEASE$ is characterised by mental retardation, epilepsy, @PHENOTYPICFEATURE$, facial dysmorphism and a characteristic behavioural phenotype.	false
+9f705a76371f67e12a75c9d9a85b52e716a0c2e5	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype.	false
+79b75a95ec3fe796a4ea29e9ea9f8fc40321b642	@DISEASE$ (AS) is a genetic disorder characterised by severe mental retardation, subtle @PHENOTYPICFEATURE$, a characteristic behavioural phenotype, epileptic seizures and EEG abnormalities.	has_symptom
+26db2a3606b9ab4ab58fc2fecafcc9eb84ca0928	Angelman syndrome (AS) is a genetic disorder characterised by @PHENOTYPICFEATURE$, subtle @DISEASE$, a characteristic behavioural phenotype, epileptic seizures and EEG abnormalities.	false
+984796dffd5ed186904b169bf5b319cd2fc5509a	Angelman syndrome (AS) is a genetic disorder characterised by severe mental retardation, subtle @DISEASE$, a characteristic behavioural phenotype, @PHENOTYPICFEATURE$ and EEG abnormalities.	false
+905c216c84269ac37d256008029360759b58016a	@DISEASE$ (AS) is a genetic disorder characterised by @PHENOTYPICFEATURE$, subtle dysmorphic facial features, a characteristic behavioural phenotype, epileptic seizures and EEG abnormalities.	false
+a3d4729ea7a257f1ab118c2f513212c96f49e2b2	@DISEASE$ (AS) is a genetic disorder characterised by severe mental retardation, subtle dysmorphic facial features, a characteristic behavioural phenotype, @PHENOTYPICFEATURE$ and EEG abnormalities.	false
+f35d24a646ac92ae3f42c8f0045944d8515bf3b0	Angelman syndrome (AS) is a @DISEASE$ characterised by severe mental retardation, subtle dysmorphic facial features, a characteristic behavioural phenotype, @PHENOTYPICFEATURE$ and EEG abnormalities.	false
+f50d9794374692db2f751b64d136372efde887b6	Angelman syndrome (AS) is a @DISEASE$ characterised by @PHENOTYPICFEATURE$, subtle dysmorphic facial features, a characteristic behavioural phenotype, epileptic seizures and EEG abnormalities.	false
+7b6d255f563552a574204f678aa98a0fa6a80005	@DISEASE$ is characterized by severe mental retardation, inappropriate laughter, absent speech, @PHENOTYPICFEATURE$ and seizures.	has_symptom
+8e964181d94406c36ca2c085bd13899296e7faed	Angelman syndrome is characterized by @PHENOTYPICFEATURE$, inappropriate laughter, absent speech, @DISEASE$ and seizures.	false
+e3e74ec63b763894211819c6942aa9705805317a	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, inappropriate laughter, absent speech, dysmorphic facial features and seizures.	false
+49483ce81c718778efc0719e62fc791bea4fd17c	Angelman syndrome is characterized by severe mental retardation, inappropriate laughter, absent speech, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bc332499ed3b7b09d269914b6c5d0d921c93270	@DISEASE$ is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and @PHENOTYPICFEATURE$.	false
+60d3d6ac1de8ab83fde272f6c36e458ab1b8ae53	@DISEASE$ is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, @PHENOTYPICFEATURE$, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	has_symptom
+15bee9ac7ff9f8ea3ff50b1a09715febec05a799	Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary @DISEASE$, @PHENOTYPICFEATURE$, seizures, and abnormal behaviors such as easily provoked laughter.	false
+331d4d1e7cae6c60c18976cfae4a4b4bebd102e9	@DISEASE$ is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary microcephaly, @PHENOTYPICFEATURE$, seizures, and abnormal behaviors such as easily provoked laughter.	false
+91a641a9441fc957e8dd317fd5c4fee150c2289f	Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe @PHENOTYPICFEATURE$, @DISEASE$, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	false
+1db316c953b07bb942d2986e90b6c849d5b65f56	Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe @PHENOTYPICFEATURE$, facial dysmorphism, secondary @DISEASE$, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	false
+6b8a6912788b1ccabcfb41c53184c26ca4bcb0a9	Angelman syndrome is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$ speech disorder, facial dysmorphism, secondary @DISEASE$, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	false
+4605da60b7ad4b54c2e293f19c4cb0a8793c14ea	Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, @DISEASE$, secondary microcephaly, ataxia, @PHENOTYPICFEATURE$, and abnormal behaviors such as easily provoked laughter.	false
+0bfc7d101c6d9f6e41147ba65dcc3827eebc49dd	@DISEASE$ is a neurodevelopmental disorder characterized by mental retardation, severe @PHENOTYPICFEATURE$, facial dysmorphism, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	false
+a8dbddbb74a714409c2d94f58d3767fffdf0800f	@DISEASE$ is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary microcephaly, ataxia, @PHENOTYPICFEATURE$, and abnormal behaviors such as easily provoked laughter.	false
+a83ef6921b686d6561c950796c65a5d691c6114f	Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, facial dysmorphism, secondary @DISEASE$, ataxia, @PHENOTYPICFEATURE$, and abnormal behaviors such as easily provoked laughter.	false
+0bacda696e6d7d4de520ec0b92ee451d23a4d0e2	@DISEASE$ is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$ speech disorder, facial dysmorphism, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	false
+7423bad71e9c5a71ea49bb197a66112a5ca49717	Angelman syndrome is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$ speech disorder, @DISEASE$, secondary microcephaly, ataxia, seizures, and abnormal behaviors such as easily provoked laughter.	false
+158189627068f361c050c1f5366e862dbd1abf7f	Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, severe speech disorder, @DISEASE$, secondary microcephaly, @PHENOTYPICFEATURE$, seizures, and abnormal behaviors such as easily provoked laughter.	false
+fa17c3a904577ce50762fa35bb4b3dc7f940cc4f	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with @DISEASE$, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	has_symptom
+50566521403f8a602a9249eeb62c42e1371757fc	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and @DISEASE$, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+9dfd04bf6a4a195af06d54c44337e1864f6ae989	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with @DISEASE$, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+07cd29da7bea6f36d91eeaec079baa8e476791e5	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped @DISEASE$ lip, and widely spaced teeth.	false
+a501d37f492af43a8354f1e79fb4b13cc1086fbd	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @DISEASE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+5f8ba838e4a6fb41dd59012c1050d6ebedc264c7	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, @DISEASE$ and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+1dd20eb2be5c1d708bfacc7eb4b9a76f1b89de2f	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of @DISEASE$ are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+cce1af7cc6b661bb4ff036ac7877281719aa344e	@DISEASE$ (SQTS) is a rare inheritable arrhythmia, associated with atrial and @PHENOTYPICFEATURE$, caused by mutations in six cardiac ion channel genes with high penetrance.	has_symptom
+a753b778ee67f55326f5b098879dec6cd5bad9be	Short QT syndrome (SQTS) is a rare inheritable @PHENOTYPICFEATURE$, associated with atrial and @DISEASE$, caused by mutations in six cardiac ion channel genes with high penetrance.	false
+19f5d0acb67e53b52a3df05e6e2bb956d9c7e170	@DISEASE$ (SQTS) is a rare inheritable @PHENOTYPICFEATURE$, associated with atrial and ventricular fibrillations, caused by mutations in six cardiac ion channel genes with high penetrance.	false
+4685007f089359220c664a7c305187398d4b2eba	The @DISEASE$, a recently discovered ion channel disorder, combines shortened repolarization, a predisposition to atrial and @PHENOTYPICFEATURE$ arrhythmias, and a risk of sudden death.	has_symptom
+8ab74a12144d954f45d0fb11b4c30c9705e75e4a	@DISEASE$ is one of the underlying disorders associated with @PHENOTYPICFEATURE$.	has_symptom
+0453f227cab6cf2ffe763bf214ed88ddadb23cfe	Oral quinidine is effective in suppressing the gain of function in IKr responsible for some cases of @DISEASE$ with a mutation in HERG and thus restoring normal rate dependence of the QT interval and rendering ventricular tachycardia/@PHENOTYPICFEATURE$ noninducible.	has_symptom
+ffe550345e488a6afeceaf8c6c1a03703972f9fd	What proportion of persons with isolated @PHENOTYPICFEATURE$ are heterozygotes for @DISEASE$?	has_symptom
+dd95a2405c3c13a3e84dc5a5d875bce0a18f9f83	The possibility of association of familial @PHENOTYPICFEATURE$ and @DISEASE$ is discussed.	has_symptom
+b800adaca314a9c83cd6d1a2981764827fc60d0c	@DISEASE$ and @PHENOTYPICFEATURE$ in a family.	has_symptom
+839b2cde85e226cceb08ce24ac03f12cd7546955	The main features of @DISEASE$ are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and @PHENOTYPICFEATURE$ associated with cortical migration defects, and most patients are never able to walk.	has_symptom
+551fc594a9d44043906881333f4ffdb772ccf273	The main features of @DISEASE$ are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with @PHENOTYPICFEATURE$ and seizures associated with cortical migration defects.	has_symptom
+13e143ed87988254610422522a8102a22d947f94	The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with @DISEASE$ and @PHENOTYPICFEATURE$ associated with cortical migration defects.	false
+16dce4bbd27f985c0d981f58b0eeb3cf63c88333	The main features of @DISEASE$ are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with mental retardation and @PHENOTYPICFEATURE$ associated with cortical migration defects.	false
+3c739e97dc2d75c1c54b3c28da1414a269458671	Patients with Fukuyama-type CMD (@DISEASE$), characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and occasionally, convulsions, are more frequently seen in Japan than those with non-Fukuyama type CMD (NFCMD).	has_symptom
+951e4ce9763bf7db4d6aa0a8d3d39b028e393f2e	Most @DISEASE$ patients are @PHENOTYPICFEATURE$ and the level is moderate to severe, with IQs ranging from 30 to 50.	has_symptom
+79cdf06875d6e1fd374ce74e6261d92ba95d37fe	We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-@DISEASE$ in two Turkish patients, and limb-girdle muscular dystrophy and no @PHENOTYPICFEATURE$ in a German patient.	has_symptom
+e02ad9588ecaf5eefbe281d85eb9cfe04205024f	The commonest forms are the Fukuyama CMD (@DISEASE$), associated with @PHENOTYPICFEATURE$ and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression.	has_symptom
+41cc027437d805c43bddd3ccde0a228f7f712109	Fukuyama-type congenital muscular dystrophy (@DISEASE$) is an autosomal recessive disorder prevalent in Japan, characterized by cobblestone lissencephaly and dystrophic changes in skeletal muscle, resulting in @PHENOTYPICFEATURE$, epilepsy and motor impairment.	has_symptom
+3d82818aabf60e9e749e7218dc58b1523576e803	The normal brain MRI and normal cognitive development distinguish this form from @DISEASE$, muscle-eye-brain disease or other forms of CMD with secondary partial merosin deficiency and abnormal brain MRI and/or @PHENOTYPICFEATURE$.	has_symptom
+7afd3b68b2f78624a2fd1336817e8b6a470d6cab	Fukuyama-type congenital muscular dystrophy (@DISEASE$), an autosomal recessive disorder with a high prevalence in the Japanese population, is characterised by severe muscular dystrophy associated with brain malformation (cortical dysgenesis) and @PHENOTYPICFEATURE$.	has_symptom
+29a42fa26fc6ff5c38423f2c1b6fe6326eaf45a8	FCMD is clinically characterized by a triad of @PHENOTYPICFEATURE$, brain deformities, and congenital muscular dystrophy, and a majority of @DISEASE$ patients have a homozygous 3-kb retrotransposal insertion in the 3'non-coding region.	has_symptom
+f19e23ad3b8347d2c3fb4e713e688732332bfc1a	@DISEASE$ is clinically characterized by a triad of @PHENOTYPICFEATURE$, brain deformities, and congenital muscular dystrophy, and a majority of FCMD patients have a homozygous 3-kb retrotransposal insertion in the 3'non-coding region.	has_symptom
+0a61709cdce91834bc93a27852e417f6f425555d	The posterior region of the developing palate emerges as a potential target for therapeutic strategies in clinical management of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	has_symptom
+ea0ab33b0f8a68d4866f72c996b5a54fb6d199d5	The molecular bases underlying differential @DISEASE$ phenotypes are still poorly understood and it is unclear why @PHENOTYPICFEATURE$ is more frequent in patients carrying the S252W mutation.	has_symptom
+18c024b94686282641446ba37db8ce94b2b3ef07	Differential effects of FGFR2 mutations on syndactyly and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2a30720cab072f2714c6872a333640af5cb0ac2e	Differential effects of FGFR2 mutations on @PHENOTYPICFEATURE$ and cleft palate in @DISEASE$.	false
+4f0a08dd3c20e21e5453c8a05f4d1d14fa4063fa	Differential effects of FGFR2 mutations on @PHENOTYPICFEATURE$ and @DISEASE$ in Apert syndrome.	false
+ddd54e114c3c97713249e38dbbe93d8825896369	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, @PHENOTYPICFEATURE$, and mental deficiency.	has_symptom
+d056e5345afa512485abe0052bbb1cb00a1e6b40	@DISEASE$ patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and mental deficiency.	false
+ccf7791e4db140a0972a539acbac9997dd47ac2e	Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+38d636d70bf3c0fd21dc56a43dd01bb8969f2893	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and @PHENOTYPICFEATURE$.	false
+9dea436a0a671f27ed171e2471be7df9057265e7	Apert syndrome patients are different in clinical pathology, including @PHENOTYPICFEATURE$, @DISEASE$, and mental deficiency.	false
+e55e8355196873cc8bb7792ca8559de2403265a7	Five patients had a @PHENOTYPICFEATURE$, 4 had @DISEASE$, and hypernasality scores decreased in 3 patients.	has_symptom
+85bfe6ca4fae62b6b573bcb7e996c402d99b915c	To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with @DISEASE$ from 5?years and 2?months to 9?years and 10?months without @PHENOTYPICFEATURE$ were analyzed in this study.	has_symptom
+dea203edf5bbbaa3433d5e6cc23ff144b41430ff	To highlight the intrinsic facial and intraoral features of @DISEASE$, five Japanese individuals with Apert syndrome from 5?years and 2?months to 9?years and 10?months without @PHENOTYPICFEATURE$ were analyzed in this study.	has_symptom
+46617cb8ac0eb6f900889159be7946b63c2e5f6a	Of 3 patients with @DISEASE$ but no @PHENOTYPICFEATURE$, 2 (66.7%) also had a decrease in hypernasality scores.	has_symptom
+0e8a5989c28db3b357ec0f3e4ecd0cabac9abff0	Mental retardation, associated additional malformations, @PHENOTYPICFEATURE$, and extensive lateral palatal soft tissue swellings were more common in children with @DISEASE$.	has_symptom
+cb4e884e846aaea1e72b4b08b1392aa44eac2c8d	@PHENOTYPICFEATURE$, associated additional malformations, @DISEASE$, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome.	false
+7260046ece76555e6ef2fd66b586e0b828215162	@PHENOTYPICFEATURE$, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with @DISEASE$.	false
+e1de2732e0544df984ab5f035319c8ebb78340e3	@DISEASE$ can be associated with congenital left diaphragmatic hernia and @PHENOTYPICFEATURE$.	has_symptom
+523252ac6a9db95da54525569a98a840745b981f	We experienced the anesthetic management of a patient with @DISEASE$ who underwent partial resection of mandible and @PHENOTYPICFEATURE$ repair with nasotracheal intubation.	has_symptom
+30335d0249537978f6bb8e246d81539ab32358eb	Syndromic manifestations include @PHENOTYPICFEATURE$ with hand dystonia (@DISEASE$), infantile spasms (West syndrome) and/or other epileptic seizures.	has_symptom
+99780a993dccabbbc30e45f8f6f58224988a1759	Syndromic manifestations include mental retardation with hand dystonia (@DISEASE$), infantile spasms (West syndrome) and/or other @PHENOTYPICFEATURE$.	false
+026b2c3e47ffb34e5139444fe9f935481d4e5798	Syndromic manifestations include @DISEASE$ with hand dystonia (Partington syndrome), infantile spasms (West syndrome) and/or other @PHENOTYPICFEATURE$.	false
+c4af5f9ae8922840903990e67ccaf80a26a61ac8	Syndromic manifestations include mental retardation with hand @DISEASE$ (Partington syndrome), infantile spasms (West syndrome) and/or other @PHENOTYPICFEATURE$.	false
+9545166ef0412ef318aefa35a01042b94eccd8f9	Syndromic manifestations include mental retardation with hand dystonia (Partington syndrome), infantile spasms (@DISEASE$) and/or other @PHENOTYPICFEATURE$.	false
+5878fc3470d1ff813bc8d21ed75346b952a950de	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and mental retardation (XMESID), and nonspecific @PHENOTYPICFEATURE$ (NS-XLMR).	has_symptom
+b533aa9afc7ebf070f9194824eea452cccf253a3	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and @PHENOTYPICFEATURE$ (XMESID), and nonspecific mental retardation (NS-XLMR).	has_symptom
+1c37cc05eaf987ca6e8c86f621fd9047e5f19c6b	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), @PHENOTYPICFEATURE$ with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and mental retardation (XMESID), and nonspecific @DISEASE$ (NS-XLMR).	false
+c857d1ea04cea519811e65483adf094fa5a2866e	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with @PHENOTYPICFEATURE$ and @DISEASE$ (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+7481a2ef5955d2c316197070f94f3b5bb624b53e	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), @PHENOTYPICFEATURE$ with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+1d9740cecc61707312e6134465c7a96b324d4018	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with @PHENOTYPICFEATURE$ and mental retardation (XMESID), and nonspecific @DISEASE$ (NS-XLMR).	false
+3b13212523c4f9a71a4e94d652c72ceaa371b569	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), @PHENOTYPICFEATURE$ epilepsy with spasticity and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+4d192244c4045c904629ce619119a5714cc7b7ab	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), @PHENOTYPICFEATURE$ with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and @DISEASE$ (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+459dc06fcafe23b8d54cf9ce146131209e66a896	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), @PHENOTYPICFEATURE$ epilepsy with spasticity and @DISEASE$ (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+bbed2cecb885a56510cd8d72805fef218f5acf3a	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), @PHENOTYPICFEATURE$ epilepsy with spasticity and mental retardation (XMESID), and nonspecific @DISEASE$ (NS-XLMR).	false
+f6b133fcc6db9db7bde7e12e349879b5716853ea	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with @PHENOTYPICFEATURE$ and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+e28a5f73089580b92363475a33de7ddacca9c987	and two syndromal @PHENOTYPICFEATURE$ loci, @DISEASE$ (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2),	has_symptom
+4162c6bf4be2f8e1dcb455862db7ea77298de7fc	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, @DISEASE$ (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked @PHENOTYPICFEATURE$.	has_symptom
+df5f24acfface3bff2932c533e7bd1b2018c544c	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, @DISEASE$ (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and @PHENOTYPICFEATURE$, and in nonsyndromic X-linked mental retardation.	has_symptom
+ef96785dbb812835c5a24fee70366109478e2631	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, @DISEASE$ (@PHENOTYPICFEATURE$ with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation.	has_symptom
+4a9731176ef74d9575b027dcb34bdfe927b1d4c7	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with @DISEASE$ movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked mental retardation.	false
+275f28c02788132330ebe2ac1c784234d7d56af6	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and @DISEASE$, and in nonsyndromic X-linked mental retardation.	false
+65628155c23333cfcdb99de124120e5c3fcbe19f	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked @DISEASE$ syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked mental retardation.	false
+068a95b3e4a2a6445f9a04a13d3d97b8c93e67e8	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, @DISEASE$ (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked mental retardation.	false
+24f3dbb1b0b175d653e9f6784cb3916f75f8dc6d	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (@DISEASE$ with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked mental retardation.	false
+358ae9beaa8cb70dc2d9c93d327566e0f1ecd99a	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked @DISEASE$.	false
+fc6a118be6889779b4cf84eb19a2844a8f6ace64	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms @DISEASE$, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked mental retardation.	false
+8555186e59c64aad1d6b2cbb4ab88c6a73a8dfe9	Recent human genetics approaches identified the Aristaless-related homeobox (ARX) gene as the causative gene in X-linked infantile spasms, @DISEASE$, and non-syndromic @PHENOTYPICFEATURE$ as well as in forms of lissencephaly with abnormal genitalia.	has_symptom
+5f439a56a271e5f5f76b968be1dfc19c5d2d7a56	Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked @PHENOTYPICFEATURE$ (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), @DISEASE$ and X-linked infantile spasm.	has_symptom
+3f3114dce0d3ea8c9045eb24de87523df9f55baf	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, @DISEASE$ (@PHENOTYPICFEATURE$, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	has_symptom
+b5bdf6826783b526a09a476308309378be976fd9	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and @PHENOTYPICFEATURE$, @DISEASE$ (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	has_symptom
+52d0a23ae68f397ce3f571c0aadc0140ce96a631	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, @DISEASE$ (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of @PHENOTYPICFEATURE$.	has_symptom
+c40382bcd352f671545eabee90fb750c5b4d4ebb	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and intellectual disability, @DISEASE$ (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+27bbbee27fab0702df2f30f95f72ed5d7b18c2ee	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (@DISEASE$, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+debf9a5fba7b1727ba444e4e7a5d50205b71af2f	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of @DISEASE$.	false
+76647a1711febdf3436a363a1c411d920d16b6ea	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and @DISEASE$, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+b45bebdd55be65d14eb94231f91b4859ca7d556f	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, Partington syndrome (@DISEASE$, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+15d139fc12a89872540ed67357beb7da79b63718	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of @DISEASE$.	false
+aeb99ae495c54ca550810c2235953134d7989545	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and @DISEASE$), as well as nonsyndromic forms of mental retardation.	false
+3997a27a84c934c655cfa305cfd9cfbc68f1e6eb	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+9e776fc88a03b85ad6d7cb25843f411fb1e6f00f	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and @DISEASE$, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+d0ff04bd20be005a97632784fcae3ede04c3fd81	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+8150a47280cc48c8fee6683a48b1df86b69917ff	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, @DISEASE$ (mental retardation, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+effcf1455fbbbe1c84a9fc0e4cd01d39f4ed6c38	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and @DISEASE$, Partington syndrome (mental retardation, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+ca7a73f269a872d6b60286fcc98c909c62262cc1	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+2c5fd6349f3401569a2891557a49eda2edbbbb28	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$), as well as nonsyndromic forms of mental retardation.	false
+ebf149e88524d6045fb0bfb324dbd38025861079	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, @DISEASE$ (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+448c1327dd499b3e2b2f9d9cc6c0cf0c0f0a02fc	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, Partington syndrome (mental retardation, ataxia, and @DISEASE$), as well as nonsyndromic forms of mental retardation.	false
+e1e2944b78f6689cdc4b05e9db12f1885de2ff9d	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and intellectual disability, Partington syndrome (@DISEASE$, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+e057e7d5d4cac04ab9f519ec7a7ff26cd6ef5b59	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of @DISEASE$.	false
+f6a48ddbb17534b30bbb3d65f5e8f89a5e05c80f	The most common mutation in ARX (seen in X-linked infantile spasms syndrome, @DISEASE$, and X-linked @PHENOTYPICFEATURE$) is a 24-bp duplication in exon 2 resulting in expansion of a polyalanine tract.	has_symptom
+5265261d16a01fb4dbf3fd966e83f8e5b1aa8b2e	The most frequent ARX mutation found to date in patients with X-linked infantile spasms, @DISEASE$ or X-linked @PHENOTYPICFEATURE$, is a duplication of 24?bp in exon 2, resulting in the expansion of the second polyA tract.	has_symptom
+d0eb873724fcda47a63038e7bb081ef6fe9284e1	The most common one, the c.428_451dup, is associated with a wide spectrum of phenotypes, ranging from the most severe West syndrome to @DISEASE$ (MR and hand dystonia), and even nonsyndromic X-linked @PHENOTYPICFEATURE$ (NS-XLMR).	has_symptom
+83f929683795b9eb257f127a174c8993517bd0e0	It is unknown why patients with @DISEASE$ suffer from @PHENOTYPICFEATURE$.(ABSTRACT	has_symptom
+c3e57c209551148c3a8abf707171896069182dfe	@DISEASE$ is a severe human disorder, associated with dyskeratosis, anemia, and @PHENOTYPICFEATURE$.	has_symptom
+129d4ed42f62657e74c7ed114dfaec3adae25059	@DISEASE$ is a severe human disorder, associated with dyskeratosis, @PHENOTYPICFEATURE$, and mental retardation.	false
+1309007602262ff3a673781881d89522c9372642	Dyskeratosis congenita is a severe human disorder, associated with dyskeratosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+96623d1ca047fa048880602a973a06e536b859eb	Sudden development of bilateral @PHENOTYPICFEATURE$ in a child with @DISEASE$: a case report.	has_symptom
+393b1b6ea4f56ab56a0251e5654cd2ae0101ba03	We present a three years old girl, diagnosed with @DISEASE$, with sudden visual loss due to bilateral @PHENOTYPICFEATURE$.	has_symptom
+e450c0cea151c2f5e9a9199940fe8b9b0891af3b	@DISEASE$ (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$ and hyperlipidemia.	has_symptom
+6cb6a93f1e4e73143e5f6f0bfcd32d8d8c7aacf8	Glycogen storage disease type III (@DISEASE$ III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and @PHENOTYPICFEATURE$.	false
+2bfe1da3ca7fd0fe6ee071ac6b45e030087abe41	Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, @DISEASE$, short stature and @PHENOTYPICFEATURE$.	false
+8a8c19ff8796e74ad50144863e12242ffa45d0f7	Glycogen storage disease type III (GSD III) is an @DISEASE$ caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and @PHENOTYPICFEATURE$.	false
+f6e8fbe80b154708dbe93d55b40e32d6cc2b7933	@DISEASE$ (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and @PHENOTYPICFEATURE$.	false
+e44df193a248caf2a900fe748acce5bb82127b2f	Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9a1453d3113290da4d05454976944fc2b4c16951	Desired features of an ideal @DISEASE$ involve easy insertion, high insertion success rate even by inexperienced users, protection against aspiration of gastric contents and low incidence of postoperative complications such as sore throat, hoarseness, cough or @PHENOTYPICFEATURE$.	has_symptom
+e35229290ecf9e8ffd73ac737f6e28aa1cec95db	The monosomy @DISEASE$ phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and @PHENOTYPICFEATURE$ (in some cases).	has_symptom
+9c88b0e9a5aff5c23d45e7b81a2729be087b89ad	The monosomy @DISEASE$ phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: @PHENOTYPICFEATURE$ and hydrocephalus (in some cases).	false
+17494b34b91499ec2de1a7bdf94b4ceaaab5d73e	The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: @PHENOTYPICFEATURE$ and @DISEASE$ (in some cases).	false
+8cb797b8cad73e4f1c02f9b336934f3efd682361	The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological @DISEASE$: @PHENOTYPICFEATURE$ and hydrocephalus (in some cases).	false
+1987d6e043951f78495ce648f6f1617f3de3f7c1	@DISEASE$ is a neurodegenerative disorder mainly characterized by spastic paraplegia, @PHENOTYPICFEATURE$ and neuropathy (SPOAN).	has_symptom
+263190e644d293277565719e281dd77809c10f4d	Spastic paraplegia, @PHENOTYPICFEATURE$ and neuropathy (@DISEASE$) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt.	has_symptom
+9ff67112b51a5a6796b3b4ab65c26e39ace1b234	Nerve conduction studies in spastic paraplegia, @PHENOTYPICFEATURE$, and neuropathy (@DISEASE$) syndrome.	has_symptom
+aa35ff8a483246589588036bb619559bdd770bc4	A new autosomal recessive genetic condition, the @DISEASE$ (an acronym for spastic paraplegia, @PHENOTYPICFEATURE$ and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general.	has_symptom
+fe2dc2fd90a4d995c5b1527386fd82f1f924c883	UBE3A regulates MC1R expression: a link to @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+836bf5efa777202fdf7343ffc2b11a36461d00c1	Phenotypic differences in @DISEASE$ patients: imprinting mutations show less frequently microcephaly and @PHENOTYPICFEATURE$ than deletions.	has_symptom
+d717db9ec5771c6977a93dfddfe7d27764be1f8a	Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently @PHENOTYPICFEATURE$ and @DISEASE$ than deletions.	false
+f4a2cf66e21b8ebe6a137a1a7b2561a6dfd2384b	Phenotypic differences in @DISEASE$ patients: imprinting mutations show less frequently @PHENOTYPICFEATURE$ and hypopigmentation than deletions.	false
+d993ddfc0bba874ac37f19290ce20bbcba4f9b74	The mouse pink-eyed dilution gene: association with @PHENOTYPICFEATURE$ in Prader-Willi and @DISEASE$ and with human OCA2.	has_symptom
+72f519df5e996dea63684b9aa877680ce7cf8582	Loss of this locus is believed to be associated with abnormalities of pigmentation, such as the @PHENOTYPICFEATURE$ seen in patients with deletions of 15q11q13, and the Prader-Willi and @DISEASE$.	has_symptom
+dd021d7bb1f3677198ae72ce37c7edd45f6393fb	Association of the pink-eye-dilution gene (P) with @PHENOTYPICFEATURE$ is seen in patients who have oculocutaneous albinism type 2 (OCA2) and Prader-Willi syndrome (PWS) or @DISEASE$ (AS).	has_symptom
+d422b043b465634f932e633f7f4347a954ffa978	Association of the pink-eye-dilution gene (P) with @DISEASE$ is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and Prader-Willi syndrome (PWS) or Angelman syndrome (AS).	false
+787c673ca67f2b278e951e18fdde652fd0997461	Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and @DISEASE$ (PWS) or Angelman syndrome (AS).	false
+090ba07e6632d573236d519985d99e6fe8b2a44e	Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and Prader-Willi syndrome (PWS) or @DISEASE$ (AS).	false
+94a436012ed84c4b07ae302b58aa3fd748f4468f	Characterization of the human homolog revealed that it is localized to human chromosome 15 at q11.2-q12, a region associated with Prader-Willi and @DISEASE$, suggesting that altered expression of this gene may be responsible for the @PHENOTYPICFEATURE$ phenotype exhibited by certain individuals with these disorders.	has_symptom
+9bd3fc654d586af2a54cd7678fa0915889b72f5f	She was diagnosed as having @DISEASE$ based on her recurrent infections, poor response to vaccines, and marked @PHENOTYPICFEATURE$.	has_symptom
+40ea7e52e1b0ba6146ad780ce465c38873a6877d	Two of three were affected by X-linked agammaglobulinemia and one by common variable @PHENOTYPICFEATURE$ that, besides clinical features common to most of the immunodeficiencies, showed pre-existent physiopathologic conditions completely different from the features traditionally found in @DISEASE$.	has_symptom
+3c7f808c959a729c95afe3e441dc78f63d9ef542	In this study, we review IgA antibodies (both IgG- and IgE-mediated reactions) in patients with @DISEASE$ and @PHENOTYPICFEATURE$, anaphylaxis in antibody immunodeficient patients receiving IVIG, and proposed mechanisms of desensitization and prevention of anaphylactic reactions in immunodeficient patients receiving IVIG.	has_symptom
+4d04f3b29577164c060f42b516515abf05961c58	@DISEASE$ (CVID) is the most frequent form of primary symptomatic @PHENOTYPICFEATURE$.	has_symptom
+4745a98ad4c359e35224ddd29f37767b3c0eb8b4	Common variable immunodeficiency (@DISEASE$) is the most frequent form of primary symptomatic @PHENOTYPICFEATURE$.	has_symptom
+6f0e1065fd206b0d8cc476f4ca69b43f2a6d48c4	Besides @PHENOTYPICFEATURE$ and recurrent infections, abnormalities of T-cells might contribute to lung damage in @DISEASE$ disorders (CVID).	has_symptom
+daa4a4fac17154f69b44505ed3beb67ed719a6a3	Besides @PHENOTYPICFEATURE$ and recurrent infections, abnormalities of T-cells might contribute to lung damage in common variable immunodeficiency disorders (@DISEASE$).	has_symptom
+d3dde72a5f75115bf072914bd49f412a6b5cdd16	We report an unusual case of a 27-year-old male patient who presented with recurrent sinopulmonary infections, chronic diarrhea, and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$.	has_symptom
+aa3cd09e947725d11dbde3c60d0198531f5f8096	However, this is not a completely convincing diagnosis given that @PHENOTYPICFEATURE$ is not a feature of @DISEASE$ and the family is relatively mildly affected.	has_symptom
+4c4b9a01923ac07b1d4b1a8e738f6a05588ed661	Case report; A case of @DISEASE$ and a family of X-linked @PHENOTYPICFEATURE$.	has_symptom
+1419e3f7a49cf4640f7ec7682e7a2bcca8e6a3ea	The diagnosis, treatment, and prognosis of @DISEASE$ (CAE) and juvenile absence epilepsy (JAE) were reviewed with reference to 94 patients with @PHENOTYPICFEATURE$ (82 with CAE, 12 with JAE) and the literature.	has_symptom
+ea0d9fcec1819766886d39d8ff89ad6a5c9c55e3	@DISEASE$ (CAE) is a paediatric epilepsy syndrome characterized by @PHENOTYPICFEATURE$ in school age children.	has_symptom
+5b9506e57376ef508721b8a23560195e81089781	@DISEASE$ (CAE) is the most common pediatric epilepsy syndrome and is characterized by @PHENOTYPICFEATURE$ (AS).	has_symptom
+7a3949bb8eaf429d3a7ebd1437244289aa7ab826	This article describes a girl with mental retardation, probably due to a perinatal complication, who had @PHENOTYPICFEATURE$ with characteristic electroencephalographic findings of @DISEASE$, including normal background activity.	has_symptom
+db6e27dcdb63870aeb360a7b30a990ba0b9f419b	This article describes a girl with @PHENOTYPICFEATURE$, probably due to a perinatal complication, who had typical absence seizures with characteristic electroencephalographic findings of @DISEASE$, including normal background activity.	false
+27b0008a38dfbe199da6171d78b7ef0e966b5115	This article describes a girl with @PHENOTYPICFEATURE$, probably due to a perinatal complication, who had @DISEASE$ with characteristic electroencephalographic findings of childhood absence epilepsy, including normal background activity.	false
+ca51b8d0ad23f01c4ea5c3b8bd44f6fc06d97729	@DISEASE$ (CAE) is a well-known syndrome with onset in middle childhood and is characterized by multiple @PHENOTYPICFEATURE$ per day.	has_symptom
+2b6b9d0507ab835f1e68ea41138866f3f594eea7	@DISEASE$ (CAE) is the prototype IGE with @PHENOTYPICFEATURE$.	has_symptom
+ddf0c750e0ee5529ede003461a348e5714bc5442	@DISEASE$ (CAE) is an idiopathic generalised epilepsy (IGE) characterised by onset of @PHENOTYPICFEATURE$ in otherwise normal children of school age.	has_symptom
+c087fc11f967696f1e08309c9dfc0ef023720771	@DISEASE$ (CAE) is an idiopathic generalised epilepsy (IGE) characterised by @PHENOTYPICFEATURE$ manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG.	has_symptom
+e8b3c9e67f49b0bae1db6507421e50eab894d39f	Consecutive patients with @PHENOTYPICFEATURE$ having either @DISEASE$ (CAE) or juvenile absence epilepsy (JAE) with generalized spike and wave discharges on electroencephalography (EEG) were included after their consent.	has_symptom
+6f8ff7a264fb77b51d4a2f01b192add1b8e84dff	We describe a child who presented with @PHENOTYPICFEATURE$ and pancytopenia and was found to have a heterozygous mutation, c.845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant @DISEASE$.	has_symptom
+a51520e1db3936b925f9575d10d0fe809fd81f72	Granulibacter bethesdensis, a newly described genus and species within the family Acetobacteraceae, was recently isolated from four @DISEASE$ patients residing in geographically distinct locales who presented with @PHENOTYPICFEATURE$ and lymphadenitis.	has_symptom
+33ad241803c75d4288a37d859050afbe4b81c989	We present the case of a 41-year-old patient with @DISEASE$ who was admitted to the hospital with @PHENOTYPICFEATURE$ and subsequently, Klebsiella pneumoniae was identified on blood culture.	has_symptom
+e1f5cc4718dd010dce20ae1c87122a30cce5e3ba	From 1991 through 2004, 9 patients who either were known to have CGD or who received a subsequent diagnosis of @DISEASE$ presented with @PHENOTYPICFEATURE$ and new onset dyspnea.	has_symptom
+166fa9780cddc1997b18f0fbf256d76a87a7825a	From 1991 through 2004, 9 patients who either were known to have @DISEASE$ or who received a subsequent diagnosis of CGD presented with @PHENOTYPICFEATURE$ and new onset dyspnea.	has_symptom
+59fc55bece2fb7f7ee6b0b0739626ad276770e2e	@DISEASE$ (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, @PHENOTYPICFEATURE$ and pineal hyperplasia.	has_symptom
+f3912279d0e66effea85629798a8986ec84de33c	Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, @DISEASE$ and pineal hyperplasia.	false
+deed79bfe99dc17c7c25d8d9a3a68437da1d21a5	Rabson-Mendenhall syndrome (RMS) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia.	false
+baa934da02327270d166ed1c32e1cb49bd41577f	Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and @DISEASE$ hyperplasia.	false
+fcb2a1730e7c482b376b520eba929066b68425ea	@DISEASE$ (RMS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia.	false
+d88080477575fde7f48c7844835c5de2ca5748ac	Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal @DISEASE$.	false
+adfc4d5e1adf5fcf2818e226a83abf7163aae483	@DISEASE$ is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme @PHENOTYPICFEATURE$ and pineal hyperplasia.	has_symptom
+e0cb02bc0638077d6f4a113650c8fafda04e36a2	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @PHENOTYPICFEATURE$, extreme hyperinsulinemia and @DISEASE$ hyperplasia.	false
+888b965b928a57591f7944cc7e6350945e89cf27	@DISEASE$ is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @PHENOTYPICFEATURE$, extreme hyperinsulinemia and pineal hyperplasia.	false
+8e16ae3ce9daad9587f135514a1fc173390fb0cf	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and @DISEASE$ hyperplasia.	false
+c7d8478c6d2377bafca1c613a1eb6448b26633d1	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia.	false
+dca61e94efc27be79caba8031a464c544a4b5508	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @PHENOTYPICFEATURE$, extreme @DISEASE$ and pineal hyperplasia.	false
+3a1d8664dfddd019e59ac92c25f78b9bd24edb1a	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme @DISEASE$ and pineal hyperplasia.	false
+7e2474c61af0f70e25ce54bd41cdbc41866eaa84	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting @DISEASE$ and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia.	false
+8610d63637aed8550c100e0d37417f8ce96ac5ed	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @PHENOTYPICFEATURE$, extreme hyperinsulinemia and pineal @DISEASE$.	false
+2d559507b8ac4d0d68ed1b6a35fd611ba0cd5612	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting @DISEASE$ and post-prandial @PHENOTYPICFEATURE$, extreme hyperinsulinemia and pineal hyperplasia.	false
+e80e42fcf9f7c21288598d5abdae9cb7c23729b6	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal @DISEASE$.	false
+c1815d9d03c2b69f18819414d0d724fb3f62b287	The neonatal form of @DISEASE$ presents in the first days of life with @PHENOTYPICFEATURE$, seizures, multifocal myoclonus and characteristic "hiccups".	has_symptom
+7d63ad0ff41b1d33a2b2333b749e3af7377e66dd	The neonatal form of non ketotic hyperglycinemia presents in the first days of life with @DISEASE$, @PHENOTYPICFEATURE$, multifocal myoclonus and characteristic "hiccups".	false
+9aba5f42ffff7563d3faa2d2fb08a4715ebce744	The neonatal form of @DISEASE$ presents in the first days of life with encephalopathy, @PHENOTYPICFEATURE$, multifocal myoclonus and characteristic "hiccups".	false
+213a9d6d095069b81d981b688105373a62cf8431	Here we present the vigabatrin experience in two patients with early myoclonic @PHENOTYPICFEATURE$ owing to @DISEASE$ (glycine encephalopathy).	has_symptom
+d36c787d836f44b175bbb5b5a8a7dbfb2d52b790	Here we present the vigabatrin experience in two patients with early myoclonic @PHENOTYPICFEATURE$ owing to nonketotic hyperglycinemia (@DISEASE$).	has_symptom
+525b69f83f3a64eee8edd42a52a6f5b675ceb946	Here we present the vigabatrin experience in two patients with early @PHENOTYPICFEATURE$ @DISEASE$ owing to nonketotic hyperglycinemia (glycine encephalopathy).	false
+a860121c7a5315fd8e5d93c4e0f80378248d75d3	Here we present the vigabatrin experience in two patients with early @PHENOTYPICFEATURE$ encephalopathy owing to nonketotic hyperglycinemia (@DISEASE$).	false
+da9b9762f62f948d1d4248b00d25d326c496d1ae	Here we present the vigabatrin experience in two patients with early @PHENOTYPICFEATURE$ encephalopathy owing to @DISEASE$ (glycine encephalopathy).	false
+f76ccc717cb80a906f2949e0b4d05125a7e4788e	We report on a patient with mild episodic @DISEASE$ (NKH) on valproate who developed episodes of @PHENOTYPICFEATURE$ and chorea provoked by a fever and protein loading.	has_symptom
+e60676594dc0fcf2f129c83f32d21a04f1f08eea	@DISEASE$: a cause of @PHENOTYPICFEATURE$ in children.	has_symptom
+d9f19fab882b9105659cba09d350ddf405611f0f	A 2-week-old infant who presented with myoclonic @PHENOTYPICFEATURE$ had biochemical abnormalities consistent with @DISEASE$.	has_symptom
+81193d0f4fe7a832e2939cf5c86ea8afcbc610a2	A 2-week-old infant who presented with @PHENOTYPICFEATURE$ encephalopathy had biochemical abnormalities consistent with @DISEASE$.	false
+8ba7a3852b3f223e10d70e7e8a0a5e5b68e73f38	A 2-week-old infant who presented with @PHENOTYPICFEATURE$ @DISEASE$ had biochemical abnormalities consistent with nonketotic hyperglycinemia.	false
+46fd5f8e8ba877c30a4a3f7b32ead53aa6962bb0	An 11-year-old girl with @DISEASE$ who typically presented with a picture of early myoclonic @PHENOTYPICFEATURE$ in the neonatal period is presented in this article.	has_symptom
+6acb335714b26fd1969f6927ea4a2afddfd53860	An 11-year-old girl with @DISEASE$ who typically presented with a picture of early @PHENOTYPICFEATURE$ encephalopathy in the neonatal period is presented in this article.	false
+e6c7daf98814d5e69bf5c9d55931b76882b6fd27	An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early @PHENOTYPICFEATURE$ @DISEASE$ in the neonatal period is presented in this article.	false
+74362f6890fe4d98e38fb9107283f891c6675fca	Neonatal myoclonic @PHENOTYPICFEATURE$ is of lesional or metabolic origin; @DISEASE$ is one of its causes.	has_symptom
+3df516f2fbe94b9c5d310a996e496eaa1231a6a2	Neonatal @PHENOTYPICFEATURE$ @DISEASE$ is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes.	false
+d97e0fb36ced2f4fd30ee3c8a7dbcc7353cff1a6	Neonatal @PHENOTYPICFEATURE$ encephalopathy is of lesional or metabolic origin; @DISEASE$ is one of its causes.	false
+762b2ee5f97e242e2cbf168786f838674c23c96e	Mutations in LIAS have been identified that result in a variant form of @DISEASE$ with early-onset convulsions combined with a defect in mitochondrial energy metabolism with @PHENOTYPICFEATURE$ and cardiomyopathy.	has_symptom
+fe4fab769c137bb7f5151551f499a9f0c55fe56d	Two brothers with presumed @DISEASE$, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, @PHENOTYPICFEATURE$, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	has_symptom
+f7d50dcd20070da786b535e03ef504bdabeb356a	Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, @PHENOTYPICFEATURE$, @DISEASE$, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+8fc501b3915269bf169fe0ece5f83cba0902c6da	Two brothers with presumed @DISEASE$, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, @PHENOTYPICFEATURE$, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+77b899b21c9e22686d65cec4c63842c646a87173	Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, @DISEASE$, tracheo-esophageal fistula (VACTERL) association with @PHENOTYPICFEATURE$, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+e20fb7d7d9669690ae8e73f766f2aa06234d5fa0	Two brothers with presumed @DISEASE$, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with @PHENOTYPICFEATURE$, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+86430fcd83a7bf1aa868c5685bc50a01045348f4	@DISEASE$ (HPS) is characterized by oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis, and other variable symptoms.	has_symptom
+f1e9baa2691d7da5731e64de0b6b5411fc5b9428	Hermansky-Pudlak syndrome (@DISEASE$) is characterized by oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis, and other variable symptoms.	has_symptom
+eaa6fde4badcbb4604a7a2d6f7ec947c7ce62f32	@DISEASE$ (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous @PHENOTYPICFEATURE$.	has_symptom
+c1e0bbc02447d44ea2e05ec4580a60930eb98f44	Hermansky-Pudlak syndrome (@DISEASE$) may present to the ophthalmologist with signs suggestive of oculocutaneous @PHENOTYPICFEATURE$.	has_symptom
+ecfe767c8a8456de7d90a4b369873fb409869519	@DISEASE$ (HPS) is a rare disorder characterised by oculocutaneous @PHENOTYPICFEATURE$, a bleeding tendency, and lipofuscinosis.	has_symptom
+ecbd1be8cdcf86e9ad78fc47742bbde00541edd0	Hermansky-Pudlak syndrome (@DISEASE$) is a rare disorder characterised by oculocutaneous @PHENOTYPICFEATURE$, a bleeding tendency, and lipofuscinosis.	has_symptom
+f98287b6a3324935edf7c137de0ca991df7fbc68	@DISEASE$ (HPS) is a type of oculocutaneous @PHENOTYPICFEATURE$ associated with a bleeding diathesis and pulmonary fibrosis.	has_symptom
+d07adbd02bd01c652873dcf6929897121065d7a0	Hermansky-Pudlak Syndrome (@DISEASE$) is a type of oculocutaneous @PHENOTYPICFEATURE$ associated with a bleeding diathesis and pulmonary fibrosis.	has_symptom
+b7fc0c1c3b3e4af4ebc84ba91275ab35807f4f24	@PHENOTYPICFEATURE$ and @DISEASE$ in Puerto Rico.	has_symptom
+b9531e13ad77db37515c43e8e361d48a2442df72	Patients with the @DISEASE$ (HPS), a form of @PHENOTYPICFEATURE$, were studied.	has_symptom
+0c4a2268a9455882c931d8c728b47f5d72ab8d2b	Patients with the Hermansky-Pudlak syndrome (@DISEASE$), a form of @PHENOTYPICFEATURE$, were studied.	has_symptom
+f01e05d994698090a7fda684414194bd22e67222	@DISEASE$ patients have oculocutaneous @PHENOTYPICFEATURE$, bruising, and bleeding.	has_symptom
+0090172567cf699ee4240b8aa952515526009df0	Oculocutaneous @PHENOTYPICFEATURE$ and bruising in two sisters--probable @DISEASE$.	has_symptom
+6285d70254cf569220ff6664f8794a98c82ac386	The most prevalent type of @PHENOTYPICFEATURE$ was the @DISEASE$ (HPS).	has_symptom
+225090c03893e7822fefe831c2d6b828e117c2ae	The most prevalent type of @PHENOTYPICFEATURE$ was the Hermansky-Pudlak syndrome (@DISEASE$).	has_symptom
+94f7fc9767e539d55c843aa0c577f4dbda2788d6	@DISEASE$ is characterised by oculocutaneous @PHENOTYPICFEATURE$ and haemorrhagic diathesis.	has_symptom
+0f3d0d8c09274892a529de76109daefaf131152c	Other possible causes of childhood @PHENOTYPICFEATURE$, including @DISEASE$, are discussed.	has_symptom
+26bdac4e9e5414a8463b224f9e1992ae061d4788	In @DISEASE$ present at birth (Milroy's disease) the lymphatic capillaries and precollectors are aplastic, whereas in sporadic @PHENOTYPICFEATURE$ with postpubertal onset the large collectors are hypoplastic or aplastic.	has_symptom
+781dddfaa8e2b5abc105b91f8908878403f53630	Clinical features were collected including discolored nasal discharge, facial @PHENOTYPICFEATURE$, fever, double sickening, symptoms persisting longer than 10 days, and elevated serum C reactive protein (CRP) and erythrocyte sedimentation rate (@DISEASE$).	has_symptom
+927cc3daee2f8f2155b814ce6c19000d593e55d9	Clinical features were collected including discolored nasal discharge, facial pain, @PHENOTYPICFEATURE$, double sickening, symptoms persisting longer than 10 days, and elevated serum C reactive protein (CRP) and erythrocyte sedimentation rate (@DISEASE$).	false
+bab6a38b716797b2f21bf25c1f34c777cc7d98e7	Clinical features were collected including discolored nasal discharge, facial @DISEASE$, @PHENOTYPICFEATURE$, double sickening, symptoms persisting longer than 10 days, and elevated serum C reactive protein (CRP) and erythrocyte sedimentation rate (ERS).	false
+897d0a2b2ae1cb714f41d2a32d7e7f9650a48a36	The @DISEASE$ (OS) is a congenital malformation disorder characterized by hypertelorism, @PHENOTYPICFEATURE$, hypospadias, and additional midline malformations.	has_symptom
+3e773ce4b487b36a43248fdd1b13f42e056ac113	The @DISEASE$ (OS) is a congenital malformation disorder characterized by @PHENOTYPICFEATURE$, swallowing difficulties, hypospadias, and additional midline malformations.	false
+51eaf8e60215a0283ec1bd540b79e63fbc41065e	The X-linked Opitz G/BBB syndrome (OS) is a @DISEASE$ disorder characterized by @PHENOTYPICFEATURE$, swallowing difficulties, hypospadias, and additional midline malformations.	false
+71281916f5d465a8e2e838f402c08f1cf4e0556c	The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hypospadias, and additional midline malformations.	false
+47bd2545986bde48ffa8f7003c51d75ee46617a7	Patient 1 had AIDS, @DISEASE$, and Kaposi's sarcoma of the right lung with an associated bilateral @PHENOTYPICFEATURE$.	has_symptom
+2e98351c7c2026ba2d6c53a8d8d385c5079965e9	@DISEASE$ is an inherited dermatologic disorder commonly associated with skeletal and @PHENOTYPICFEATURE$.	has_symptom
+d190e261bbe5b39b20d8e18cac9e413ed4b63277	Oral and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0b661e4141e852fbefe0905b88647f184523013c	@DISEASE$ (FDH) is an X-linked dominant disorder characterized by patchy dermal hypoplasia with digital, ocular and @PHENOTYPICFEATURE$.	has_symptom
+e5e60ca512e90c48de0d7d5dda2899aa2501299a	The impaired social cognition can be manifested in behavioral problems like @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f2c4e52287042b531ca590cc5ed1cead8ecec540	@DISEASE$ (IP) is a rare X-linked dominant disorder characterized by highly variable @PHENOTYPICFEATURE$, eyes and central nervous system.	has_symptom
+bfa7441a1165221b8161b47f3de3ca0515b78ca7	@DISEASE$, characterized clinically by acute hepatic dysfunction, sepsis, @PHENOTYPICFEATURE$, and failure to thrive, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	has_symptom
+b3380ed24f8c183b5f902694d3c301f4cd753aa6	@DISEASE$, characterized clinically by acute hepatic dysfunction, sepsis, cataract, and @PHENOTYPICFEATURE$, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	false
+f6b751ee42fa05585d42ef5ba95dcf8872804fa0	Classical galactosemia, characterized clinically by acute hepatic dysfunction, sepsis, @DISEASE$, and @PHENOTYPICFEATURE$, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	false
+c17ee119a22f151846e58ad644678082cfafd01e	Classical galactosemia, characterized clinically by acute @DISEASE$ dysfunction, sepsis, cataract, and @PHENOTYPICFEATURE$, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	false
+b704f863662fefe345f106996e4535fa4580bafa	133 patients with congenital or idiopathic @PHENOTYPICFEATURE$ were studied (94 patients had ages between 1 month and 14 years; 10 patients had ages between 16 and 50 years and 29 patients did not have an age registry) along with 18 patients with a clinical diagnosis of @DISEASE$.	has_symptom
+e1d7afc3ada3e39ea10c481d9a7f52923bbc6b09	@DISEASE$, which is caused by deficiency of galactose-1-phosphate uridyltransferase, is characterized by acute problems of hepatocellular dysfunction, sepsis, @PHENOTYPICFEATURE$ and failure to thrive.	has_symptom
+9f296b79c8f32e2505b4f9e6f27d15c9dac96a59	The patient, admitted to our clinic for @PHENOTYPICFEATURE$, presented some signs of @DISEASE$: microcephaly, a "bird headed" profile with receding chin and forehead and large beaked nose.	has_symptom
+f3d5661505e0e93518a25114f3cb3556561a76fd	The patient, admitted to our clinic for short stature, presented some signs of @DISEASE$: @PHENOTYPICFEATURE$, a "bird headed" profile with receding chin and forehead and large beaked nose.	false
+2e3e991e303ee27f0190b47325071374aaca6941	The patient, admitted to our clinic for @DISEASE$, presented some signs of Seckel syndrome: @PHENOTYPICFEATURE$, a "bird headed" profile with receding chin and forehead and large beaked nose.	false
+a83798f2fb3312bc0170adea03be80f108b65469	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme @PHENOTYPICFEATURE$, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	has_symptom
+bbe1e1fc2f1c28dd1567806c0a15fd13b3b4e2f7	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal @PHENOTYPICFEATURE$, proportionate extreme @DISEASE$, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+269edf3c1bd39783169ca8fc36a8e7804fa27337	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, @PHENOTYPICFEATURE$, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+71c7b7125ccdee6a855c0f6c8dc10b2413f30fe1	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar @DISEASE$, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, @PHENOTYPICFEATURE$, and developmental delay.	false
+37b86832ad364eb58d1593f713b106b7ebc1f446	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal @PHENOTYPICFEATURE$, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+b93849c16fb3219cb95a91739c07b9b194350a79	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme @DISEASE$, a prominent beak-like nose, hypoplasia of the malar area, small chin, @PHENOTYPICFEATURE$, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+67f2b088be4bd7ad08073461d22f8870219a3642	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme @DISEASE$, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, @PHENOTYPICFEATURE$, and developmental delay.	false
+404ea7719450079241e45320ccb935d1d7a6a154	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar @DISEASE$, small chin, @PHENOTYPICFEATURE$, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+33c9a04bd0a423042955431732ebea455b2c13fc	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, @PHENOTYPICFEATURE$, and developmental delay.	false
+314c3b532416ff3272c3b8e808b58e651ac39520	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal @PHENOTYPICFEATURE$, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar @DISEASE$, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+93758799065397067399d66549f85d449bfb36a5	The growth deficiency in this syndrome is similar to what is seen in other types of primordial @PHENOTYPICFEATURE$ with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and @DISEASE$, which result from loss-of-function mutations in genes coding for centrosomal proteins.	has_symptom
+bc97473882a4fbcbcb00b02b0b1943c35f60ffbd	The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with @PHENOTYPICFEATURE$, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and @DISEASE$, which result from loss-of-function mutations in genes coding for centrosomal proteins.	false
+8b439456fa8146becf5b29e7da989be91458a240	The growth deficiency in this syndrome is similar to what is seen in other types of primordial @DISEASE$ with @PHENOTYPICFEATURE$, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins.	false
+36a1a69c32c8391e950138089ca4ebf408d5f8ca	@DISEASE$ is a rare autosomal recessive disease, genetically heterogeneous, characterized by @PHENOTYPICFEATURE$, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders.	has_symptom
+2ed0b103dbcb237194c8f268bb995deb7b0e8728	@DISEASE$ is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, @PHENOTYPICFEATURE$, dysmorphic features, chromosomal instability, and hematological disorders.	false
+6093c7c4f9421482ddeb2ab48fff2d454823ee38	Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by @DISEASE$, prenatal microcephaly, @PHENOTYPICFEATURE$, dysmorphic features, chromosomal instability, and hematological disorders.	false
+553452214c289a421594a5b5972b8a4977f91a58	Seckel syndrome is a rare @DISEASE$, genetically heterogeneous, characterized by short stature, prenatal @PHENOTYPICFEATURE$, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders.	false
+be23ba547c64a16e2ed1e8cd620be3da7a97af96	Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, @PHENOTYPICFEATURE$, dysmorphic features, chromosomal instability, and @DISEASE$.	false
+91fff3106ed7176e079d15f244af19cd90596557	@DISEASE$ is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal @PHENOTYPICFEATURE$, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders.	false
+9c581513c408cf8da8cf6b7e7d07363b26d18c16	Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal @PHENOTYPICFEATURE$, intellectual disability, dysmorphic features, chromosomal instability, and @DISEASE$.	false
+5d559e59e30bd4dfe31c99eae537944a4227e95d	Seckel syndrome is a rare @DISEASE$, genetically heterogeneous, characterized by short stature, prenatal microcephaly, @PHENOTYPICFEATURE$, dysmorphic features, chromosomal instability, and hematological disorders.	false
+7e4a4998fd1b7c2fa50e1615862b4928eda4794d	Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by @DISEASE$, prenatal @PHENOTYPICFEATURE$, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders.	false
+cd755b77bf77f4b8814e1fc9cb5acbf46db5e976	@DISEASE$ is a rare form of primordial dwarfism that is characterized by @PHENOTYPICFEATURE$, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance.	has_symptom
+b67d9237a8a9b8d003189604a9f08e16f29a61f2	Seckel syndrome is a rare form of primordial dwarfism that is characterized by @DISEASE$, skeletal defects, @PHENOTYPICFEATURE$, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance.	false
+065f361bc4add55cc7d1f71ed3d4ad2f316335a4	@DISEASE$ is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, @PHENOTYPICFEATURE$, and a bird-head appearance.	false
+a570d53ef5256906b7c67de7814f061dc16aae55	Seckel syndrome is a rare form of primordial dwarfism that is characterized by @DISEASE$, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, @PHENOTYPICFEATURE$, and a bird-head appearance.	false
+25c3dcb5db1c170734d43b32c26036be577aa32a	Seckel syndrome is a rare form of primordial dwarfism that is characterized by @DISEASE$, skeletal defects, mental retardation, and characteristic facial features such as @PHENOTYPICFEATURE$, micrognathia, and a bird-head appearance.	false
+a280db5a36cdf5cf95b9f8249b8f039a799fe04a	@DISEASE$ is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as @PHENOTYPICFEATURE$, micrognathia, and a bird-head appearance.	false
+5e0f665e36c093e6cb6a98ff3d4d7064c6767ee0	@DISEASE$ is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, @PHENOTYPICFEATURE$, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance.	false
+7d9e6026511481ea1fc6ed8c46034b54942399c8	In the group of SH patients, 29% (14/48) had a known cause of @PHENOTYPICFEATURE$ including chromosomal abnormalities, L1 syndrome, @DISEASE$, Walker-Warburg syndrome and hemifacial microsomia.	has_symptom
+82e468e6d295badc61ec647be468036578e33b70	Benign @DISEASE$ is a rare benign @PHENOTYPICFEATURE$ derived from the peritoneal mesothelium.	has_symptom
+a6604a6618a9e8eedf89485f3b8e5b54244b94a1	Benign @DISEASE$ is a very rare @PHENOTYPICFEATURE$ that originates from the peritoneum.	has_symptom
+7189f94d6921af537b7b9382e25d9946852c185c	@DISEASE$ presenting as a pelvic @PHENOTYPICFEATURE$: case report and literature review.	has_symptom
+d3bf72b3d35e0553beb0f2d9bc56cb08e2835d58	The pathologist reported the @PHENOTYPICFEATURE$ as @DISEASE$.	has_symptom
+03df33fe1babaf7c23bf3f59c5bc979292e01d7b	@DISEASE$: a rare @PHENOTYPICFEATURE$ of the abdomen.	has_symptom
+badc6f1257e746441845f4edcec42ac26ce852e2	The @PHENOTYPICFEATURE$ was an intramural multicystic mass, histologically similar to a @DISEASE$.	has_symptom
+059299c767d59b9257d7af62f4151656e6c8f446	BACKGROUND @DISEASE$ (BMPM) is a rare intra-abdominal @PHENOTYPICFEATURE$.	has_symptom
+ef677a48d5d0c372600f3fe398de73d36f842275	[Benign @DISEASE$ as differential diagnose of an ovarian dependant @PHENOTYPICFEATURE$.	has_symptom
+e0761849d6278ebd42c71506ba68387a863d93fd	@DISEASE$ (BMPM) is a rare peritoneal @PHENOTYPICFEATURE$.	has_symptom
+81c2ab2f332188b63eb60323f26154b3472e3a0e	@DISEASE$ mimicking recurrence of an ovarian borderline @PHENOTYPICFEATURE$: a case report.	has_symptom
+9cd25bb01eb4d4075527fa662c5460ee7f8b456d	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	has_symptom
+5c2c7ff1f86bb91ae0622612fe366e3979e8e441	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and @DISEASE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+d406a4d7b680306dd298cd6ac36ff64e05754842	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+3d12f327f5e57629548d10f0fcb68c94bac65131	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+f0db01920aab43b8ab237345c116d89d60020821	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+9d43c116536b2c00088efb7d9d6ff20dafe6cb52	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+5e5c83cf37b7c41727350229af525a77003f7415	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+010fafdfa5a7f37d323aab12f871f0fed635e602	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+cbb4ddcfee1159d49f05fbf74de1688164316977	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and @DISEASE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+0fe385fe9919da2d0fff07241f5325936fbcd92b	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+8e7229adfdbfb8c116ac28bca3acca78206ff551	ATPase) are associated with rapid-onset @DISEASE$-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS syndrome).	false
+ab0e1a67537f378f9114103feaf5d394bd5370b4	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and @DISEASE$ (CAPOS syndrome).	false
+f192e128208b0434fd04c565b60176c69e1ea6e2	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and @DISEASE$ (CAPOS syndrome).	false
+8026bd16845de2e40468602950699ef70b53e853	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (@DISEASE$).	false
+98cc7d3988f735c0652cbc17415dc36803fca5bc	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (@DISEASE$).	false
+e59e41859b43eab149895aed89e92accb033bdd1	ATPase) are associated with rapid-onset @DISEASE$-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome).	false
+41efdfcab1661dbe7608341457418ae8ec48de5f	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare disease that has been reported in 22 patients so far.	has_symptom
+5f9870da52460f1acde6e708f291ce8c64915286	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and @DISEASE$) is a rare disease that has been reported in 22 patients so far.	false
+0bb7882d5db0b56e1d6d805d443a6a7b56ecd946	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and @DISEASE$) is a rare disease that has been reported in 22 patients so far.	false
+8e03deb8ffb61290c318f0c73bb13f5866168373	@DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	false
+2a546045507fccb6d28ac909d401a9591a25a134	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	false
+a667f647668cdcea394fb50f6531227cfbe3d14e	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	has_symptom
+a9a72a4cadd6f7180fc4f88e7c5ee273365414b6	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+802334f55c47cbbdd1a2d80769928fa9633d3db3	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	false
+e500255c78fdedaf8bed09e0230bf4ade2944386	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+8eb868bab996e70a2ce0142b83f99900aa2862fa	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and @DISEASE$).	false
+e45ac54a64cd78d24e86c16ace2d5ad7333630f6	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+997a8a397a41e2e255fd9819c61a96da6b63fc28	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	false
+ec98ea4d101554e954d5790b2e5936841a6d14ce	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	false
+c1e3c9af121143e13f364e12cab52e0d29ffc26c	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+d0b5c3fa5164a6fd1fbe4762505a74de6036b066	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	has_symptom
+480ec8d434f40c89e2621b092384fadad5ec86fe	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	has_symptom
+589734da1413d0218e9d3c97ce892e68696a0280	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+873625a7bb74164e31f9687e156dd21319e66426	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and @DISEASE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+39f05205b206ac60b88356edd11017baffae1522	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and @DISEASE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+ec3fc8cbd53b15bd169235b6e784d291c1f75ed2	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+62717658862672fe840d03690dba8f27b9c70090	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @DISEASE$ as a prominent feature.	false
+75ff11c69d6e816c090fb90b8befa9af288ffef9	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @DISEASE$ as a prominent feature.	false
+eac58339cbc2b9feebcc261031829915691694a2	@DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+7d4ec8eecb1a8b64cf45e24905bce7b1eb072ce4	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+451beac4ac3eda39c5b2665942900e5433f6c259	We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); @DISEASE$ due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal @PHENOTYPICFEATURE$ and/or seizures and brain damage.	has_symptom
+93ab0cbe3c78744ce187f135af4b1618714a090c	We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal @DISEASE$ and/or @PHENOTYPICFEATURE$ and brain damage.	false
+957912632858294bbfb6434ba1e71784a2a7b4c3	We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); @DISEASE$ due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or @PHENOTYPICFEATURE$ and brain damage.	false
+360770df6bef5ab315a3a0fcce9f68e4b36e6d0a	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or biliary atresia, positive results from newborn screening, @DISEASE$, @PHENOTYPICFEATURE$, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	has_symptom
+1603ff936dd530dbf91e737877f6f3e29d37f1ff	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or @PHENOTYPICFEATURE$, positive results from newborn screening, tyrosinemia, @DISEASE$, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	false
+a6475bc15941e934dd0eea8d3c066891402f347a	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal @PHENOTYPICFEATURE$ or biliary atresia, positive results from newborn screening, tyrosinemia, @DISEASE$, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	false
+bb49977402d533f8fa5360773f6e5535294a58a2	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or @PHENOTYPICFEATURE$, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic @DISEASE$.	false
+7844e622f9d74ec1550c6b83d9ba8acc95a178dd	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or @PHENOTYPICFEATURE$, positive results from newborn screening, tyrosinemia, failure to thrive, @DISEASE$, bleeding tendencies and ketotic hypoglycemia.	false
+cd052a21099ee3b00b2ccc3a3f2e193014b88ae9	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal @PHENOTYPICFEATURE$ or biliary atresia, positive results from newborn screening, @DISEASE$, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	false
+ea5632072eabda86bf286eebefd86467abddf807	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or @PHENOTYPICFEATURE$, positive results from newborn screening, @DISEASE$, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	false
+e794d367801afe92e78e0a8a9e2b2e073334bc1c	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal @PHENOTYPICFEATURE$ or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic @DISEASE$.	false
+53c060545b633f1f5bd235e2f9128a45acae8b29	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal @PHENOTYPICFEATURE$ or biliary atresia, positive results from newborn screening, tyrosinemia, failure to thrive, @DISEASE$, bleeding tendencies and ketotic hypoglycemia.	false
+83dbb1f9baee7aa082e135eebdc17783dc98d358	The mother, who had a repaired @PHENOTYPICFEATURE$ and toe syndactyly, had been aware that her syndactyly was familial, but her unpreparedness for the birth of a child with @DISEASE$ led to interest in, and a subsequent review of, the differnetial diagnosis and the variable expression of the clinical manifestations of this syndrome.	has_symptom
+40468c5a75ea45817efd07ec55eaeb085c339082	The mother, who had a repaired @DISEASE$ and toe syndactyly, had been aware that her @PHENOTYPICFEATURE$ was familial, but her unpreparedness for the birth of a child with PPS led to interest in, and a subsequent review of, the differnetial diagnosis and the variable expression of the clinical manifestations of this syndrome.	false
+5d0ee1730269cefb351daaea384d6dbd3e5e5324	The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her @PHENOTYPICFEATURE$ was familial, but her unpreparedness for the birth of a child with @DISEASE$ led to interest in, and a subsequent review of, the differnetial diagnosis and the variable expression of the clinical manifestations of this syndrome.	false
+c80084990db989925a3b34e6233bfd2948f5fcac	Seventy-one Swedish NSCL/P families, 24 Finnish @PHENOTYPICFEATURE$ (CP) families, and 24 VWS/@DISEASE$ families (seven newly recruited) were studied.	has_symptom
+d0640a155ea78b0f1257485482038cf01fb3cc4a	To summarize the clinical characteristics and surgical and speech outcomes for patients with Van der Woude/popliteal pterygium syndromes (VWS/@DISEASE$) and to compare them with a historic cohort of patients with nonsyndromic cleft lip/@PHENOTYPICFEATURE$ (CL/P).	has_symptom
+1ce45aa27129a364ceb9944895e88ebbda8660d1	We report the case of a patient with a @DISEASE$, a rare malformation associating, in its complete form, cleft lip and @PHENOTYPICFEATURE$, cleft lower lip, intergingival synechia, defects of the genito-urinary tract and popliteal pterygium.	has_symptom
+9b4900ad78ce6172d16ce6182dd1fcbc2b5b3553	Congenital sinuses on the lower lip in association with cleft lip, @PHENOTYPICFEATURE$, or both are rare and occur in four syndromes, namely Van der Woude syndrome, @DISEASE$, orofacial digital syndrome, and the ankyloblepharon filiform adnatum.	has_symptom
+7c1bd351d95d9f1b58017a204dccd88e6b5970c5	(2) To test for association, in nonsyndromic cleft lip and/or @PHENOTYPICFEATURE$ (NSCL/P) and in VWS/@DISEASE$ families, the single nucleotide polymorphism (SNP) rs642961, from the IRF6 enhancer AP-2? region, alone or as haplotype with rs2235371, a coding SNP (Val274Ile).	has_symptom
+9ccf17ef3eff9aa249c293bb39e16ac7d70f0f0e	However, the common WS deletion region has not been completely characterized, and genes for additional features of WS, including @PHENOTYPICFEATURE$, @DISEASE$, and unique personality profile, are yet to be discovered.	has_symptom
+ed40a440360f69e7cee3bee53f0f749c044fba55	Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder, characterized by distinct facial changes, growth deficiency, @PHENOTYPICFEATURE$, supravalvular aortic stenosis (SVAS)/peripheral pulmonary stenosis, and associated at times with @DISEASE$.	has_symptom
+c6c6b4d3f7b5cfbf5accfe5c322a6438fee8f1b5	Picture of the month: @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+faf60a3143cc856bf1ffcb52ac07a005ef4ffa50	Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, @PHENOTYPICFEATURE$ with a typical neurobehavioral profile, cardiovascular anomalies, and occasional @DISEASE$.	has_symptom
+9ad125265c86b24d6bc7b323a7718e0c194c7096	Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by @PHENOTYPICFEATURE$, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient @DISEASE$.	has_symptom
+06f43344d32f26ef9460c6960a5cd5e4f4dcda37	Williams-Beuren syndrome is a rare contiguous gene @DISEASE$, characterized by intellectual disability, @PHENOTYPICFEATURE$, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia.	false
+e18e35a3d63f0a1a4190a884dae7c8a773c7ea72	@DISEASE$ is a rare contiguous gene syndrome, characterized by intellectual disability, @PHENOTYPICFEATURE$, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia.	false
+28b7d4a8ecf3ef6e62d254290d7dc7e2747cdc42	Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, @PHENOTYPICFEATURE$, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient @DISEASE$.	false
+e919e3c9267f413fc77b15ec24b84f43244c77e8	Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by @DISEASE$, @PHENOTYPICFEATURE$, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia.	false
+6df1331d4b1ae8606539cafb681c26b2ce59153c	Williams syndrome is characterized by peripheral artery stenosis such as supravalvular aortic stenosis, a distinctive dysmorphic facies, @PHENOTYPICFEATURE$ and occasionally by transient @DISEASE$.	has_symptom
+049bca77d09c1fecb1b4343c1bdbfd18bec6b4c9	The clinical phenotype of WS includes elfin facies, @DISEASE$, supravalvular aortic stenosis, hyperacusis and @PHENOTYPICFEATURE$.	has_symptom
+b6752c55bf2717761870e585788539369e906fa6	Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive facial dysmorphisms, @PHENOTYPICFEATURE$, cardiovascular anomalies, @DISEASE$, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits.	has_symptom
+7fd83ab5a3fb5e9885107a5661ea71c8c2af880a	Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive @PHENOTYPICFEATURE$, @DISEASE$, cardiovascular anomalies, infantile hypercalcemia, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits.	false
+ae33478ead469763286b2a5118a3e50dc6c884c9	@DISEASE$ is a rare congenital developmental disorder characterized by a constellation of distinctive @PHENOTYPICFEATURE$, mental retardation, cardiovascular anomalies, infantile hypercalcemia, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits.	false
+8ec48d494aa9e4e3f9b8e20158d201315937e5a6	Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive @PHENOTYPICFEATURE$, mental retardation, cardiovascular anomalies, @DISEASE$, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits.	false
+f6bdc217326acb71a7a70aa96254238b060abf3d	The disorder is characterized by multiple anomalies including @PHENOTYPICFEATURE$, an unusual (elfin) facies, supravalvular aortic stenosis, prenatal and postnatal growth deficiency, @DISEASE$, a small mandible, and frequent dental problems.	has_symptom
+5b8d409bd99c2ea44df0de729c3dc64dfaa0d25c	Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, @PHENOTYPICFEATURE$, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with @DISEASE$.	has_symptom
+d3614e06080df4e14de02591f1bd41fdfe9e4407	@DISEASE$ (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and @PHENOTYPICFEATURE$ (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia.	false
+039cc27043dc3c1965ebc381e87fda119e22ebff	Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, @DISEASE$, and @PHENOTYPICFEATURE$ (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia.	false
+546c4ad0b09d039e34848d95f71850b2899d77e5	Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and @PHENOTYPICFEATURE$ (particularly supravalvular aortic stenosis), associated at times with @DISEASE$.	false
+f3f7dc0401637ed4c4d2dc54bd42f267323002db	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like ataxia, @PHENOTYPICFEATURE$ and nail deformity, ignoring other extra and intra oral finding.	has_symptom
+eefdf76cf5b74f18e735d61c5beeaba046c24ac6	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar @DISEASE$ is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like ataxia, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+1a7adb0c7923780d50fa691b4a5f5dd3f38ba7a8	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like @PHENOTYPICFEATURE$, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+c5d309cb59bd8be41ff77219ae79fdc5e45aa818	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar keratosis is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like ataxia, @DISEASE$ and nail deformity, ignoring other extra and intra oral finding.	false
+842af67122ed98b63c84c397376e0a16dfe28164	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar @DISEASE$ is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like @PHENOTYPICFEATURE$, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+c1f212414886e5a4866479bf26b360e0316423d3	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like ataxia, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+2debfd6b398f961403a753a85b1f9e8a0730b5a2	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like @PHENOTYPICFEATURE$, @DISEASE$ and nail deformity, ignoring other extra and intra oral finding.	false
+b277cdb4a2c4128f26b33c597084342a10c01e4b	@PHENOTYPICFEATURE$ trigeminal neuropathy caused by severe mandibular resorption and nerve compression in a patient with @DISEASE$: case report and literature review.	has_symptom
+253abb666c3fc434f8b51eeddc30d88045df1a7f	This combined procedure addresses the modifiable causes of @PHENOTYPICFEATURE$ in patients with previously treated malignant @DISEASE$ and has the potential to enhance their visual function.	has_symptom
+7c82e6b893c4cd3f7c3018b9326dd3f01b1db5db	The lesion provoked retinal detachment and @PHENOTYPICFEATURE$ and was diagnosed only after enucleation due to a misdiagnosis of @DISEASE$.	has_symptom
+6f85b9fe763fc31de0feaaa83ab1245b3b93daa6	Visual acuity in the amblyopic eye of adults can improve following @PHENOTYPICFEATURE$ in the contralateral dominant eye associated with treatment for @DISEASE$.	has_symptom
+017765f422321641042e57d64f121add18f6b5be	MAR occurs in individuals with metastatic cutaneous or @DISEASE$ and is characterized by nyctalopia, photopsias, and variable @PHENOTYPICFEATURE$.	has_symptom
+69968c67df5a21cc871730a82d352d94f358d1ca	Although patients with @DISEASE$ within 3 mm of both the optic nerve and fovea are at higher risk for @PHENOTYPICFEATURE$ after proton beam irradiation, half of the patients in this study with visual acuity better than 20/200 before treatment maintained this level of vision for at least 2 years.	has_symptom
+1f542a645d31bf6647b589f98665ee5a8c3f83d8	This case demonstrates that unsuspected @DISEASE$ can invade the optic nerve and chiasm, causing contralateral @PHENOTYPICFEATURE$.	has_symptom
+883364a29cb9a07e6ab9ece3bc6419be8d590357	To determine the frequency and amount of visual improvement in amblyopic eyes of adults following @PHENOTYPICFEATURE$ in the dominant eye resulting from treatment of @DISEASE$.	has_symptom
+6f3887905552ece9513e358e728be37326185d91	@DISEASE$ (UM) is an intraocular malignancy commonly arising from choroid which can cause @PHENOTYPICFEATURE$ or metastasis.	has_symptom
+3dfb91b6399a4efbd0c66ff9295ec48fcf266e75	A white woman with unilateral nevus of Ota presented with @PHENOTYPICFEATURE$ and an intraocular mass resembling a @DISEASE$.	has_symptom
+9370828af3beb5187d382eaf5891178f1e19df2a	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (@DISEASE$) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	has_symptom
+49a4a5d4962bf885ba31d80847b2c887418bd34e	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), @DISEASE$ (NNS) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	has_symptom
+80b3398f0b039f6e90b2b07f24ffeb85071230eb	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic @DISEASE$ with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+19eb6980027f0f1fb66f501c6a5be4317a00928d	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (@DISEASE$) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+5a2b62c523519b95a332d731da7e9c4c15a58612	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), @DISEASE$ (NNS) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+5b486b7bb339e1a17ca94653d5b28d3abdd64581	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese @DISEASE$ with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+8f2349e84f8e186a3db8f2fa697a30e84eee915b	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with @DISEASE$ and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+1bb1d608dd2dbf3737d5be15407bee87bbe7b869	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and @PHENOTYPICFEATURE$, @DISEASE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+c1e9d50924f3eb33a9509d884c8dbdb94643f99d	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with @DISEASE$ (JASL), Nakajo-Nishimura syndrome (NNS) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+a1f816583c5250e16c758ed29b3aa8468fd57d1a	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, @DISEASE$ (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	has_symptom
+ffe01ce5978d248e2e4cc9be25a53830998694f4	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (@DISEASE$), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	has_symptom
+312d975d94553be842a1859554e459a81e2dd7eb	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with @DISEASE$ and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+32c50775c3358cc39d1c8e4b9a1d6ea2f47ce54e	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and @DISEASE$-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+2ca833b932d1433f6967efbd43e8a269ed43616b	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, @DISEASE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+dfa32c95a31498c3974b9f551920e3a08ba5cef1	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) @DISEASE$, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+d35ab7198c46ebfdfd6f4da2fa8ca1e77bb53248	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with @DISEASE$ (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+eca1282f3029cc9c2fd907f856efd7d560fe5e28	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (@DISEASE$), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+97c6e63d900598bec8c85bb7240a75e12054076f	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, @DISEASE$ (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+ff1ce61bcbb2e9b3b570b48233de44f6eda6b12f	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese @DISEASE$ with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+7012442c33049f1b69a8edf87dc42de524c21b88	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, @DISEASE$ and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+20eef78b1781a8b572039b401fb20c571675b596	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced @DISEASE$ (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+3f407eed519fe19faead817c53dadac7a1e0ccfe	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) @DISEASE$, Nakajo-Nishimura syndrome (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+5b7114b473738677eb93011ffbd5118ea9909548	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "@DISEASE$ (joint contractures, @PHENOTYPICFEATURE$, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	has_symptom
+5be15fcd3a7271458a02c2435f3ee03edbb9c803	@DISEASE$ is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, @PHENOTYPICFEATURE$, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	has_symptom
+d44d7b6b2db57151f2639c41e63749a05ad98774	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "@DISEASE$ (@PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+b6563e4d6b7e5872fcc82cb58dc7be49e296b678	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (@PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset @DISEASE$) in adults.	false
+ac84fb499126a6cbf585d4bbd568490efe30ceec	@DISEASE$ is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (@PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+f5e9bec8f603ff02df5920a3dfee240e3fe96972	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (@PHENOTYPICFEATURE$, muscle atrophy, @DISEASE$, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+a0811b316bab8091f9fa50e36af6a6ff7103bc88	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (@PHENOTYPICFEATURE$, @DISEASE$, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+ad2f589a7feeadfe6cc710880f5ed7d020454632	Loss of the sarcoglycan complex gives rise to childhood severe autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) which is clinically very similar to DMD.	has_symptom
+f58aa0ebf1270fb41625926a60faca3631ab8fd2	Severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) was first reported to result from a deficiency of 50DAG.	has_symptom
+824e4bcddf433de34f6eb15c748fe5d0e5aede46	Severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) result from mutation in the sarcoglycan complex (59).	has_symptom
+2a023e9d02bc417a92b1431e5300b4ec40ec7381	[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$)].	has_symptom
+8feba5ac6b214e0ca529fc343f75a5cde0208654	One of these associated proteins, adhalin, has been implicated as a candidate for severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) due to absence of anti-adhalin staining in muscle biopsy samples taken from SCARMD patients.	has_symptom
+d854fad16003e5f3c5c37f5399392596e47d6842	One of these associated proteins, adhalin, has been implicated as a candidate for severe childhood autosomal recessive @PHENOTYPICFEATURE$ (SCARMD) due to absence of anti-adhalin staining in muscle biopsy samples taken from @DISEASE$ patients.	has_symptom
+b0f86e748403606f88d5bda6bcd664ae46548e00	Among autosomal recessive families, cases with rapid progression, called severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) were isolated.	has_symptom
+e7510200224f79ef94be61e29e39690f9b631287	Dystrophinopathy and severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) are clinically very similar and had not been distinguished in the early 20th century.	has_symptom
+86a7d8fa70b543e31638a4f84a8c47a728791e58	This may render muscle cells susceptible to necrosis in two forms of severe childhood @PHENOTYPICFEATURE$, DMD and @DISEASE$.	has_symptom
+ddb262e16ca4ec556d72295ad64b4e11bbcd617e	Severe childhood autosomal recessive muscular dystrophy (@DISEASE$) is characterized by a severe Duchene @PHENOTYPICFEATURE$ like phenotype.	has_symptom
+d18c6cc96e220b64731575fbf26dc92f37137c0d	Severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) is characterized by a severe Duchene muscular dystrophy like phenotype.	has_symptom
+ca2377a7925300b97fdbcf6611497e353f2d2e4a	Dystrophic hamster has been regarded as the useful model animal for Severe childhood autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+ca3e1a319ee2aa7e1ab015011e566aed5ca69da1	Most subjects with @DISEASE$ have hypogonadotropic hypogonadism state, impairment fertility and @PHENOTYPICFEATURE$.	has_symptom
+bc8b4001a7719bf3005d05b2b7d1a488d5443c58	The association of @PHENOTYPICFEATURE$ and rickets and/or scurvy-like skeletal lesions in @DISEASE$ patients may be used as a valuable clinical criterion in long-term chelation management.	has_symptom
+ba89cfacd29831084525afd6be99d85d2c9d4d21	@DISEASE$ was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, @PHENOTYPICFEATURE$, and developmental delay.	has_symptom
+7c6724625c6c3d7823bf775957fc6812ae7514ec	@DISEASE$ (CD) is characterized by premature fusion of the lambdoid and posterior part of the sagittal sutures, and @PHENOTYPICFEATURE$.	has_symptom
+a1f4abe42d17bdf47b7e23929e2e79c8368bceab	Hermansky-Pudlak syndrome (@DISEASE$) is a genetically heterogeneous inherited disease causing @PHENOTYPICFEATURE$ and prolonged bleeding times.	has_symptom
+731a8c8c00539a5aae551cae5fd5c35bafed9eb4	@DISEASE$ (HPS) is a genetically heterogeneous inherited disease causing @PHENOTYPICFEATURE$ and prolonged bleeding times.	has_symptom
+78e3941b73bc8504057120323f506a005c4ba54c	Hermansky-Pudlak syndrome (@DISEASE$) is an autosomal recessive condition characterized by a bleeding diathesis and @PHENOTYPICFEATURE$, hair, and eyes.	has_symptom
+b541b04b3bcdef79aa4b5eba448f7729b16685db	@DISEASE$ (HPS) is an autosomal recessive condition characterized by a bleeding diathesis and @PHENOTYPICFEATURE$, hair, and eyes.	has_symptom
+4d57a6687ed1535401534a402b0096c126609b73	NGS-based 100-gene panel of @PHENOTYPICFEATURE$ identifies mutations in Chinese @DISEASE$ patients.	has_symptom
+4d3cdea798b78cc83589f08a29c9d5785bad7ec8	@DISEASE$ (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis.	has_symptom
+664ad08f24c53f9242c55dd2f1996a999041cef0	Hermansky-Pudlak syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet dysfunction, and in many cases, life-threatening pulmonary fibrosis.	has_symptom
+13f9168923cf547a6a1e823e9542c4cff87b2dd1	Patients with Hermansky-Pudlak syndrome (@DISEASE$) exhibit moderate to mild @PHENOTYPICFEATURE$, hair, and eyes.	has_symptom
+4d2ac2946e38159af7fbb4c139a5a3a8fef86a97	Patients with @DISEASE$ (HPS) exhibit moderate to mild @PHENOTYPICFEATURE$, hair, and eyes.	has_symptom
+5849581cb47479eaa8f74d43d1cc5eb506ce6479	Characterization of melanosomes in murine @DISEASE$: mechanisms of @PHENOTYPICFEATURE$.	has_symptom
+1bd5db2295b610014b6220ab3c83346d1904e1b6	Bruises, which may be more visible in patients with @PHENOTYPICFEATURE$, were found in all cases with either @DISEASE$ or OCA1.	has_symptom
+d2d37c71b009ecf5372328d1814634a9ae78ce61	@DISEASE$ causes oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis and granulomatous colitis or pulmonary fibrosis.	has_symptom
+b8f7c017a3f1d46a29cdd3c7ea5694b47415a524	We show that all @DISEASE$ mutant strains except gunmetal have an increase in unpigmented or hypopigmented immature melanosomal forms, leading to the @PHENOTYPICFEATURE$ coat colors seen in these strains.	has_symptom
+804e262a5d097da54f56b1107c0a3cd8a15d80f9	We show that all @DISEASE$ mutant strains except gunmetal have an increase in unpigmented or @PHENOTYPICFEATURE$ immature melanosomal forms, leading to the hypopigmented coat colors seen in these strains.	has_symptom
+de89676978b3507b1106812b4d0148035aaeddc5	Hermansky-Pudlak syndrome (@DISEASE$) is a rare recessive disorder characterized by @PHENOTYPICFEATURE$, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles.	has_symptom
+8c6d8a67085d0ca12574ff48ef4c4a51b3a68b31	@DISEASE$ (HPS) is a rare recessive disorder characterized by @PHENOTYPICFEATURE$, bleeding diathesis, and other symptoms due to multiple defects in lysosome-related organelles.	has_symptom
+34714936f19a607e5aedb2a4596ae336c86a3896	Early-onset congenital cataracts associated with microcornea, @PHENOTYPICFEATURE$, and micropupil are essential ocular features of the @DISEASE$ syndrome and are the first recognizable signs during early infancy.	has_symptom
+e428834d531b74ce4d28ae2dd0a74945a6242fb1	Through a careful clinical examination, by which a subtype of @PHENOTYPICFEATURE$ was noted, the @DISEASE$ phenotype was recognized, and a new diagnosis of pseudopseudohypoparathyroidism was established.	has_symptom
+6756770f7b5161a71a03948ce094619319edbae9	@DISEASE$ (AHO) is characterized by short stature, @PHENOTYPICFEATURE$, and often heterotopic ossifications that are typically subcutaneous.	has_symptom
+f7dc994cbd0baa8cf4c69d2e65724e5700c83c3c	Albright hereditary osteodystrophy (AHO) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and often heterotopic ossifications that are typically subcutaneous.	false
+fe524bdbaafcb5c2728a50240633f0d121fdd7d4	@DISEASE$ (AHO) is characterized by @PHENOTYPICFEATURE$, brachydactyly, and often heterotopic ossifications that are typically subcutaneous.	false
+bafe4154d22311c167455cb705e9955e11493e1a	Physical findings showed typical features of @DISEASE$, including short stature, obesity, @PHENOTYPICFEATURE$ and dental hypoplasia.	has_symptom
+ca00f653ec47d5a3b9dc8eb149ead0b1e6eb105b	Physical findings showed typical features of @DISEASE$, including @PHENOTYPICFEATURE$, obesity, brachydactyly and dental hypoplasia.	false
+500cf86691eb4b68f1a9e40eec3a8c0074a4f277	Physical findings showed typical features of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, brachydactyly and dental hypoplasia.	false
+0e04d4bf028c7c3eb4802947cdc857f485e6f628	Physical findings showed typical features of Albright's hereditary osteodystrophy, including short stature, @PHENOTYPICFEATURE$, @DISEASE$ and dental hypoplasia.	false
+17ecbe50d5efca1e65ec58db47847c2611f110d8	Physical findings showed typical features of Albright's hereditary osteodystrophy, including @PHENOTYPICFEATURE$, obesity, @DISEASE$ and dental hypoplasia.	false
+2a923224cc8e28869bf9247567eb2cd57f911508	Physical examination revealed psychomotor and growth retardation, facial dysmorphism and @PHENOTYPICFEATURE$, suggestive of @DISEASE$-like phenotype.	has_symptom
+3b9e820afc539b6d7b1c9d26af358c52dfdafe6d	Physical examination revealed psychomotor and @PHENOTYPICFEATURE$, facial dysmorphism and @DISEASE$, suggestive of Albright hereditary osteodystrophy-like phenotype.	false
+9d0ddedea723119ba15eae0a22de0ab351686ff1	Physical examination revealed psychomotor and growth retardation, @PHENOTYPICFEATURE$ and @DISEASE$, suggestive of Albright hereditary osteodystrophy-like phenotype.	false
+caf5d573781ebfa15657f835a197093481c7740f	Physical examination revealed psychomotor and growth retardation, @PHENOTYPICFEATURE$ and brachydactyly, suggestive of @DISEASE$-like phenotype.	false
+1990644a22efd679248af6098772dd04dfed3cdd	Physical examination revealed psychomotor and @PHENOTYPICFEATURE$, facial dysmorphism and brachydactyly, suggestive of @DISEASE$-like phenotype.	false
+4c9711e1f76fe45eb850a3f55091cd647a17a3a1	We encountered a 10-year-old girl with typical @DISEASE$ with round face, short stature, @PHENOTYPICFEATURE$, and obesity.	has_symptom
+ef58e03515b86c25a022875efb2f61975840bb75	We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b5c29f4aa59f272878d1078ef5d7bc421ad509ea	We encountered a 10-year-old girl with typical @DISEASE$ with round face, short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+0152dfe479ac3243b7a68bd224c57ed4a8d6b189	We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, @PHENOTYPICFEATURE$, @DISEASE$, and obesity.	false
+9e8a0956ce3a88abfab90b89ea99242f1e7642b0	We encountered a 10-year-old girl with typical @DISEASE$ with round face, @PHENOTYPICFEATURE$, brachydactyly, and obesity.	false
+dfd753891a3575d9fca8663171f7d3ac9fbfb1de	Intracranial calcification and @PHENOTYPICFEATURE$ mimicking @DISEASE$ in an adult patient with lingual thyroid and prolactinoma-like lesion.	has_symptom
+53c6bcd51850509f9b549cd3db0f3313a82ee7cd	@PHENOTYPICFEATURE$ and brachydactyly mimicking @DISEASE$ in an adult patient with lingual thyroid and prolactinoma-like lesion.	false
+34b473c4b6f9dc1b9c8d5d31fa836b769112c03c	@PHENOTYPICFEATURE$ and @DISEASE$ mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion.	false
+69a268feb8fad82d6e583192ff3727add6c55398	@PHENOTYPICFEATURE$ and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and @DISEASE$-like lesion.	false
+713d520e941e9a971b010ff550bf9d1fd8ef8238	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, obesity, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+aa167e4286ce431171ea577d50d9094b9b2175be	@DISEASE$ (AHO) is characterized by @PHENOTYPICFEATURE$, round face, calcifications, obesity, brachydactyly and intellectual disability.	false
+2c79950b36ffaa6c7a907611c964a9166aed88b5	Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, @PHENOTYPICFEATURE$, @DISEASE$ and intellectual disability.	false
+e7293d4b517b76157d57dda056bd273387b3bb48	Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+439584609bb77cc11808a67c3024eb6dbcb1fa1c	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and @PHENOTYPICFEATURE$.	false
+8c0dba170be78c3ef71e9705d49641a184501ef5	Albright's hereditary osteodystrophy (AHO) is characterized by @PHENOTYPICFEATURE$, round face, calcifications, obesity, @DISEASE$ and intellectual disability.	false
+940855ee20cc9144908a7cac8d33bd11b282fdb1	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, @PHENOTYPICFEATURE$, brachydactyly and intellectual disability.	false
+364205414f59148f80c80c121f2c0aa2a0b13f09	@DISEASE$ (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including @PHENOTYPICFEATURE$/brachymetacarpia, short stature, and sc ossifications.	has_symptom
+731931e57c1f818f8f085723c0591e8a3b34bfb0	Albright hereditary osteodystrophy (AHO) is a rare @DISEASE$ characterized by phenotypic abnormalities including brachydactyly/brachymetacarpia, @PHENOTYPICFEATURE$, and sc ossifications.	false
+44010757f5d517fac8ce10d89e9aa3853007d37b	@DISEASE$ (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including brachydactyly/brachymetacarpia, @PHENOTYPICFEATURE$, and sc ossifications.	false
+06464977a36a18cf02ff1d899b79babbbf6026cf	Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including @DISEASE$/brachymetacarpia, @PHENOTYPICFEATURE$, and sc ossifications.	false
+61d9ffec29def63b302272203e3485034eea7219	Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an @DISEASE$-like @PHENOTYPICFEATURE$ phenotype.	has_symptom
+daf5150e6e6dac0587cdb8cf05f8b3926ee89e05	Deletion 3q22.1-q23 with blepharophimosis, @PHENOTYPICFEATURE$ and epicanthus inversus and an Albright hereditary osteodystrophy-like @DISEASE$ phenotype.	false
+eeee94c802d49eb103defbfad19d3f18cea0f4cd	Deletion 3q22.1-q23 with blepharophimosis, @PHENOTYPICFEATURE$ and epicanthus inversus and an @DISEASE$-like brachydactyly phenotype.	false
+0b7d3539008f69558b07d8ff59ddb8d27a9535a6	@DISEASE$ (AHO) is a characteristic skeletal phenotype, including short stature, obesity, round face, and @PHENOTYPICFEATURE$.	has_symptom
+f47b394c2d30a1a32b21f04aa92dcdb8722f7e2f	Albright's hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including @PHENOTYPICFEATURE$, obesity, round face, and @DISEASE$.	false
+5cdcd3a395153189b033c6ac5db0f11a04853c4c	Albright's hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including short stature, @PHENOTYPICFEATURE$, round face, and @DISEASE$.	false
+f28408b5e23abb4b14f39c1bf77b21604be98b03	@DISEASE$ (AHO) is a characteristic skeletal phenotype, including @PHENOTYPICFEATURE$, obesity, round face, and brachydactyly.	false
+f36d9261a1985b5051680b203143b1d2c0c9cc1c	@DISEASE$ (AHO) is a characteristic skeletal phenotype, including short stature, @PHENOTYPICFEATURE$, round face, and brachydactyly.	false
+e009e0ef5ad0fa614ca32548a10cf10aac81cf83	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	has_symptom
+ca229be0f374df433bcbe0cc77fc62767961f548	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+b75a828fa4286414fd109f613cf63fa3997bd4da	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4c361663ec5d21a98b78db7f6a73321958ce0ca2	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+58f25c37a4afb4cd4ae2b6e52e224e6880bf6486	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ee6d02c48284cc3e70a6915766b7626decb89aee	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+6f5cc0b67af10d87d754805862d38ee4c3a718a1	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cb7f9395702333239908ca80654894befc9dad4b	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+77eb3d18c6e350e72db23001480162ce33fbdd89	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+92b71c588b573a6cc0a063a8c2e9840f68446acf	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f91759238f361faeb1c79a317ddbdd1a82e1efe4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+c921d06aeb303f66c4420ebfd50f0b83b2423e5e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+37803f3af53c17dec616595f9ac7e9370b18823d	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+948aebae89615821e2f8ca1cc55354fc48e8a78e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+99f52ec45f137b0d49f411a558b57a9acbff2aa9	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @DISEASE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4f2c8296910b8d63928fe76dcd2afcf44ef9fa10	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e5857778a2fe8765459af7e8a9b8c0b4aed3ba5b	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f9ea0cec088b5719cac1faf399fbc4839eebd73f	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f672d67f139b2a3e87d78ac7d5d0a0705cba6d8e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+060f9f84d9386895837b73102fc98e050e0fc2ba	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e4523f878333ad93792cb2d78d0ba0055d6e617f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+573dabd2eea76d6d46c6a987da4d68bd88a24080	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+7b0a55ff33f7d219931ebbc80d9ad8a7caf264d3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a73d4fd3a39119b8ae41971ea2a12c4f4d6211c3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f517a5ad9aaeabfdbe7bf99f880db4617b827eaa	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @DISEASE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+001ba38c52ba70d63beb009a35d6f984fa66d4d8	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+4fe799cee20db4998695ccf19c40b98bc319d43d	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+79d3dc1099c5083a2ee1cd7e1ed2076c49c73e35	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ee2865cc3615c11cb6566ba2a086eb7c553918eb	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+51a880921265bae40cc8041da47d801240d3e47d	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+a9882289b60642f742acff33a3084ced36aaf160	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+2a21083ef66e165e63be353441c1eb1a8a41eaa8	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+418eba8b83b796b9aeed0f15e09beb2503fcb41d	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bc2768d7be27b6ecf8c1ea941a1f35ecee4bd914	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+98a468dabff63a15d49359dc13b570a9af9edea6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @DISEASE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+370800b4f0a524bae8b90f65eda4f393a42d1c33	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+08588add3c43845df27a2a0a8c91b2007e213231	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+5c0587ae1051af5dfc3e1c206c489ab18f5452e6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bcdc1bf9400db013666c021848df66b6688460c6	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+0af6042a6348e7bfd332f8286c0c5dbdd0708bb4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+53db629bd58ea43243cb44ecd1651f380a78fa59	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cb171f333ce544277e40135c59cbe9cff7a2cfe6	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e141eb356e9bec026300fa5b28f94e74d6812335	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bf3b9e83a8ba7d72615b0958e97c26d2775eacf6	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation @DISEASE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+3ec8deb5a588e89cbb1246730cd4c032a347d5a8	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @DISEASE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+2603287ba2a273dd149683cb041394fbb1d86fb6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4a06080bad4caf4924cf67845950f397a1025fd5	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+da58a5a2b0bcc4b2c89490172827fa673305fbd6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+494aeb2a19795c1d647127ec794058951a7629d3	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a9405844814d71fc445bbd717147096ddc4778b5	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+40fc570404e6c6200df3b08d6c5b31bb7f7a5a6e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f9f8194ed0b26e32f35afd7034371b2a92564bfe	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ @DISEASE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ed0eca25a57ba6d733d96e68f50ef63c3108c63f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+17ee5a7ce91e8797d9aa1f462c5ed088639d7630	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+d840518f98eabcee0e678be56209442253b14636	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+88d979c12a1fb66cc95d86e81ca8e0f51b9cb39a	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cf7e924f7f3d325f66d713dc6827c899378cb752	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+53fad350f4b4cd964cab5b39841cca73bf2ef7d3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+5d0b014ce58fb48be3bc064f082904d994e83960	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+b455e00385af3f494c311d3bae88aba567d21422	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+962d09b3ce30a0c5d7a479590531a30aba744876	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cf052b4b396449f81b23dd11738fc32e3e28b967	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+3d07ffa8055eef631abc946b7fc0efe4158c3700	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+02b64e017a3a9719ee1369056d32c759f4eafa03	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+840b80bbeb401a66fda4aa55e5a47fa1325147e4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f3946ee0ae16feb59943ed341bf3794919bf5f6c	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+8f766d70f8071751fadbf81ae3679136b5e4d89a	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+c40abcc8aa8789fdd0a1aa6ebf342da2546a3efd	@PHENOTYPICFEATURE$ and erectile dysfunction in @DISEASE$.	has_symptom
+60c059171ff52e7534e31e3b38d5e7122d617ad8	@DISEASE$ with diabetes mellitus, mixed @PHENOTYPICFEATURE$ and adrenal insufficiency.	has_symptom
+58471a8b59b9577ccbff49d8019f1922828b8aab	We examined a patient with progressive development of early onset frontal lobe type @PHENOTYPICFEATURE$ and upper motor neuron signs in which neuroimaging methods and biochemical tests refer to adrenoleukodystrophy. Genetic tests revealed a new mutation at position L160P in @DISEASE$ protein.	has_symptom
+bf0815d59ebefbd422b30a8fbd4a00bc44e40b0e	This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with short stature, delayed puberty, insidious onset of @PHENOTYPICFEATURE$ and later with typical features of @DISEASE$ including complete heart block.	has_symptom
+1beef69b720c0a3fc95a07623be8e076c675225a	This report focuses on the diagnosis of @DISEASE$ in a Chinese girl who presented initially with short stature, delayed puberty, insidious onset of @PHENOTYPICFEATURE$ and later with typical features of Kearns-Sayre syndrome including complete heart block.	has_symptom
+a6251be000afd4713ea488a5310d46cbd2d9ab16	This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with @PHENOTYPICFEATURE$, delayed puberty, insidious onset of @DISEASE$ and later with typical features of Kearns-Sayre syndrome including complete heart block.	false
+fcf4ae964058a98b8c641f09f285c993ac08f5e2	This report focuses on the diagnosis of @DISEASE$ in a Chinese girl who presented initially with @PHENOTYPICFEATURE$, delayed puberty, insidious onset of ptosis and later with typical features of Kearns-Sayre syndrome including complete heart block.	false
+f35822354103e87f31b83b5d4b01cf9827943141	This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with @PHENOTYPICFEATURE$, delayed puberty, insidious onset of ptosis and later with typical features of @DISEASE$ including complete heart block.	false
+dcf0eea4a3c8ac770916a46fec045fb187aa4d31	A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and @PHENOTYPICFEATURE$, as well as cardiac conduction abnormalities resembling @DISEASE$ (KSS).	has_symptom
+2b75e17770c45d255c9dcfd1bdafd3b29fdf405c	@DISEASE$, first described by Kearns and Sayre in 1958, is a rare disorder consisting of @PHENOTYPICFEATURE$, limited movement of both eyes and atypical retinal pigmentary change (salt-pepper like appearance).	has_symptom
+3009f1817ec10f2927e066bf7884f3a87c303cf0	[Corneal ulceration complicating surgical correction of @PHENOTYPICFEATURE$ in patient with @DISEASE$--a case report].	has_symptom
+fd763c18726f22d36bf509ad98448c8a2b76dd37	Evaluation of bupivacaine-induced muscle regeneration in the treatment of @PHENOTYPICFEATURE$ in patients with chronic progressive external ophthalmoplegia and @DISEASE$.	has_symptom
+03f5dec1e5c51c5a99c940980828a9a6be6ffe4c	Astute physical examination revealed opthalmoparesis, @PHENOTYPICFEATURE$, and pigmentary retinopathy consistent with a diagnosis of @DISEASE$.	has_symptom
+176aa1287c2f8d3203752a384194c2408265ed89	The @DISEASE$ is a mitochondrial myopathy characterised by @PHENOTYPICFEATURE$, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects.	has_symptom
+721a528e81eb140faf4adb0145ca5a11cefb8cd5	@DISEASE$ is a rare mitochondrial disease which usually occurs sporadically with the presence of @PHENOTYPICFEATURE$ and the clinical triad of chronic progressive external ophthalmoplegia, atypical retinitis pigmentosa and cardiac conduction disorders.	has_symptom
+6e9c1eb0d11dcff15f4c7cdcdb5b0078c8117bbc	We present a boy of eight years of age with symptoms of @DISEASE$ (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	has_symptom
+89faf209a6fe3a3e6432ac8973e2901de8730c75	We present a boy of eight years of age with symptoms of @DISEASE$ (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+15fbf9353de18f58fc5c3e4399e457fda02e36c4	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, @DISEASE$ retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+c70676461f0f002ee402c914fe15bce2aeb2f41e	We present a boy of eight years of age with symptoms of @DISEASE$ (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+0d6df4e7abbd8f473a0a23199cb3c6f712ffd217	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous @DISEASE$, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+e805cac5fe1663832b258445103d1099f9ddb050	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot @DISEASE$.	false
+69e55264ab26c1a4577d2a03a3bf67f720b43075	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, @DISEASE$, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+b3d02eb07f4d78f5f6b6da709c618682b001a611	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, @DISEASE$, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+d0dcb63089d330024f76c42b298750e23bedd9c9	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, @DISEASE$, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+6ec9f7bf4582146c6f51cb8f98163a6a9d562e39	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, @DISEASE$ retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+2550091f9a571d7f7738778b6aff70c28ce43a7d	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, @DISEASE$, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+bc7f20dad5a3bb391885c8b833b6f28b55070312	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot @DISEASE$.	false
+5caf52f1373ffe9a42ad884e420d37a831ac359c	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @DISEASE$, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+38e4c6250c227d4e35577172794494fa0561e097	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous @DISEASE$, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+374e53c5d861a607bd3c40e75bdf0f2a15fe0659	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @DISEASE$, mitochondrial myopathy, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+4a6d8d34add3d3b2929f09f8364a2cc70e8c0174	@PHENOTYPICFEATURE$ and double aortic arch associated with @DISEASE$.	has_symptom
+0c25ef7f5aa706c0c006382b4ce6e2b76f9c001f	These findings suggest that patients with @PHENOTYPICFEATURE$ belong to the spectrum of the @DISEASE$.	has_symptom
+19ce3f67e8da77431711dec344c1e887d41f0b77	@PHENOTYPICFEATURE$ with unilateral absence of the left proximal pulmonary artery and @DISEASE$.	has_symptom
+06ce8af7f077b83ca051a917524acb64e9aa6335	Spectrum of @DISEASE$ in patients with @PHENOTYPICFEATURE$: expanded Di George syndrome.	has_symptom
+2ff55cfb4b714a25160c323386076b78fde95a78	Familial third and fourth pharyngeal pouch syndrome with @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+52c59c8d45680056444dc1aced410806ee248a88	The fetus was subsequently diagnosed with @PHENOTYPICFEATURE$ and a hypoplastic thymus, consistent with @DISEASE$.	has_symptom
+5ae546f2fdb0f2d6b6833664ab0ad28a9298c481	@PHENOTYPICFEATURE$ associated with double aortic arch in a patient with @DISEASE$: A rare case report.	has_symptom
+2a86604ac44d29a0f3530976f4ed2097662c34df	@DISEASE$ with @PHENOTYPICFEATURE$: report of one case.	has_symptom
+df7f8e0a2d0c968301349a527b6925a44361aec5	We report the 1st known case in which @PHENOTYPICFEATURE$ and double aortic arch have been associated with @DISEASE$.	has_symptom
+b57f76b3651a1be73aab42992160d07f3882cfb9	We describe a 13-year-old girl with @DISEASE$ and @PHENOTYPICFEATURE$ who underwent an uneventful truncal valve replacement.	has_symptom
+1a6deb168c335ee5064b634017e5326c636682a7	@DISEASE$ has well-known characteristic morphological findings, i.e., the whorl-like corneal opacity and the posterior spoke-like @PHENOTYPICFEATURE$, etc.	has_symptom
+b8c6be9fc00c8fae04133f9e7f3fc83ecf5ddf71	@DISEASE$ is an X-linked lysosomal storage disease caused by deficiency of ?-galactosidase A. Ocular findings, such as cornea verticillata, @PHENOTYPICFEATURE$, and retinal vascular tortuosity, serve as important diagnostic markers.	has_symptom
+95ba56516906c39374cd77b87246987227fc0645	At least one ocular manifestation consistent with @DISEASE$ was present in 41 of 52 subjects (79%) who underwent ophthalmologic examination, including 8 (15%) with conjunctival vessel tortuosity, 15 (29%) with cornea verticillata, 10 (19%) with Fabry @PHENOTYPICFEATURE$, and 34 (65%) with retinal vessel tortuosity.	has_symptom
+a634e4be8ac5094e6193dad87f53e7385e322b76	@DISEASE$ is an important differential diagnosis in patients with jaundice and @PHENOTYPICFEATURE$.	has_symptom
+7fcaeaa9fe5d3b1c79b0b14e2b93326e73c4b29d	@DISEASE$ (MCPH) is a typical neurodevelopmental disorder characterized by a decreased brain size, @PHENOTYPICFEATURE$ and abnormal behaviors.	has_symptom
+625059599ccf4408b3a1c934b137e6b2a5baea39	Mutations in the Abnormal Spindle Microcephaly related gene (ASPM) are the commonest cause of @DISEASE$ (MCPH) a disorder characterised by a small brain and associated @PHENOTYPICFEATURE$.	has_symptom
+38d6172cf1def8a7318eeba4b840203f3eda8ce9	; OMIM *607117) have been identified as a cause of @DISEASE$ and @PHENOTYPICFEATURE$ (MIM #251200).	has_symptom
+ded2e0cfdc71b15e68931909c2e29f3136ac90c7	@DISEASE$ (MCPH) is a rare neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$ and congenital microcephaly with a head circumference at least 4 SD below age and sex means, in the absence of other significant malformations or neurological deficits.	has_symptom
+2fa8af58d81fdc4862924c9aef5086304749ed4b	@DISEASE$ (MCPH) is characterized by reduced head circumference (<or=4 SD) and @PHENOTYPICFEATURE$ without any other neurological manifestation.	has_symptom
+b913179be76c0da374bc907f122bb953a5574845	@DISEASE$ (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of @PHENOTYPICFEATURE$.	has_symptom
+88d6c3248ef81c37fa02c5f7a1039c066274bd53	@DISEASE$ (MCPH) is characterized by reduced head circumference, reduction in the size of the cerebral cortex with otherwise grossly normal brain structure and variable @PHENOTYPICFEATURE$.	has_symptom
+00bcb53ba6eb6db1fcfef2a9eb9d39ea39b30f66	@DISEASE$ (MCPH) is a congenital disorder characterized by significantly reduced brain size and @PHENOTYPICFEATURE$.	has_symptom
+13316bd6659340258d67b5fd509448a711dbbaf7	@DISEASE$ (MCPH) is a neurodevelopmental disorder characterized by marked reduction in brain size and @PHENOTYPICFEATURE$.	has_symptom
+823158aee4822a1dfaf74dac963de384437f96ec	Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human @DISEASE$ (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and @PHENOTYPICFEATURE$.	has_symptom
+c2744b2a4afa366a9363bb6795d3158a2ad8a6aa	In 58/80 patients with secondary @PHENOTYPICFEATURE$ renal parenchymal disease was present, 14 had renovascular disease, three had @DISEASE$, four had primary hyperaldosteronism and one had a pheochromocytoma.	has_symptom
+32c669191d9f896a626050b54ffaab4f02bd8de5	The discriminatory power of three clinical tests for adrenal activity are compared by measuring the variability of the results obtained in 40 normal control subjects, 35 patients with mild essential @PHENOTYPICFEATURE$, and 13 patients with @DISEASE$.	has_symptom
+6736ec00361eaedfc90ea7792776d13cef3491e0	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, heart failure and @PHENOTYPICFEATURE$, stroke, @DISEASE$, obesity and renal failure, among others.	has_symptom
+743767a986fceb2d866b3fc48661ce901a17afda	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, @PHENOTYPICFEATURE$ and hypertension, stroke, @DISEASE$, obesity and renal failure, among others.	false
+04e6455ddb2149854cdd51b042d130855017fefa	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as @DISEASE$, @PHENOTYPICFEATURE$ and hypertension, stroke, Cushing's syndrome, obesity and renal failure, among others.	false
+efa2c909f45abe6669faa992f8bde4287e82b8ef	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as @DISEASE$, heart failure and hypertension, stroke, Cushing's syndrome, obesity and @PHENOTYPICFEATURE$, among others.	false
+66a038026283e0c31d385df203dc03c1aab81dfb	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, @PHENOTYPICFEATURE$ and @DISEASE$, stroke, Cushing's syndrome, obesity and renal failure, among others.	false
+5939e5577b9f3e1cc0259ebeffd0ef6649e9f018	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, heart failure and @DISEASE$, stroke, Cushing's syndrome, obesity and @PHENOTYPICFEATURE$, among others.	false
+6710ce1fb9dea9f2cf5e7be693d627382ea334aa	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, heart failure and hypertension, stroke, @DISEASE$, obesity and @PHENOTYPICFEATURE$, among others.	false
+2f0c9f929db28b7c9903b37ad3acef8be05ae1f1	Plasma prolactin level and plasma renin activity were determined in normal subjects and patients with low and normal renin essential hypertension, renal @PHENOTYPICFEATURE$, renovascular hypertension, primary aldosteronism, @DISEASE$, pheochromocytoma and malignant hypertension.	has_symptom
+fa7e0c66d3b062c1f122ddf42c11f107349e45e4	In acromegaly, difficult endotracheal intubation is possible whereas severe @DISEASE$ may be complicated with @PHENOTYPICFEATURE$ cardiac failure, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	has_symptom
+32bb205e52c7a2a0b8d2ecd58f074f3aab290cc8	In acromegaly, difficult endotracheal intubation is possible whereas severe Cushing's syndrome may be complicated with hypertensive @PHENOTYPICFEATURE$, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in @DISEASE$ preoperative and anaesthetic management.	false
+d0cb97895c7f68ab3ab3cc11af8c4ce3cca0b8c7	In acromegaly, difficult endotracheal intubation is possible whereas severe @DISEASE$ may be complicated with hypertensive @PHENOTYPICFEATURE$, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	false
+baf4aa5b49e9c1db682c85e07e1e46e1ff447b8a	In acromegaly, difficult endotracheal intubation is possible whereas severe Cushing's syndrome may be complicated with @DISEASE$ @PHENOTYPICFEATURE$, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	false
+7c880ff44d30586a9857be380478e4a9be657a79	In acromegaly, difficult endotracheal intubation is possible whereas severe Cushing's syndrome may be complicated with hypertensive @PHENOTYPICFEATURE$, infections, @DISEASE$, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	false
+37ff8986be90c2dbc46adddbac1ab2e0f11b979a	Although they have a vast array of beneficial effects such as immunosuppression and anti-inflammation, excess glucocorticoids can lead to iatrogenic @DISEASE$, which includes @PHENOTYPICFEATURE$ and cardiovascular disease.	has_symptom
+36dc003047c8dba9917528a74b4e2843f4dbd3ef	The paper is concerned with the results of determination of a value of Na+/H(+)-metabolism in 66 patients with arterial hypertension of different genesis, including 21 patients with stage 11 essential hypertension, 8 patients with renal @PHENOTYPICFEATURE$, 25 patients with Itsenko-@DISEASE$ or disease, 7 patients with pheochromocytoma, and 5 patients with primary hyperaldosteronism.	has_symptom
+7ec8ac9067652475a19b7eb4adf5fe5ce5bf76b4	The 22q13 deletion syndrome (@DISEASE$) is characterised by a global developmental delay, absent or @PHENOTYPICFEATURE$, generalised hypotonia, autistic behaviour and characteristic phenotypic features.	has_symptom
+ed1dd492985ab05d5b1e20a4e0ca6d53c7ae5488	The @DISEASE$ syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or @PHENOTYPICFEATURE$, generalised hypotonia, autistic behaviour and characteristic phenotypic features.	has_symptom
+095ce8ff24f9ab37bdf640f62a85d98f694618e9	The @DISEASE$ syndrome is associated with global developmental delay, absent or @PHENOTYPICFEATURE$, and generalised hypotonia.	has_symptom
+1771321ad3f072b0127bb75da904efa81040c473	@DISEASE$, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal growth, profound developmental delay, absent or @PHENOTYPICFEATURE$, and minor dysmorphic features.	has_symptom
+bb9fc235d676c02c0c03aaebffad090c429fded3	@DISEASE$ (22q 13 microdeletion syndrome) is characterized by generalized hypotonia, global psychomotor development delay, absent or @PHENOTYPICFEATURE$ and autistic behaviour.	has_symptom
+511a8cf329de264d641f0673d7faf542ad5bd9f4	syndrome (@DISEASE$) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely @PHENOTYPICFEATURE$, and minor dysmorphic features.	has_symptom
+2526aed3f01e8af8e0ef434a1b464da1b0367ef8	Two patients showing global developmental delay, hypotonia, and @PHENOTYPICFEATURE$ were diagnosed with @DISEASE$ via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis.	has_symptom
+ef53146fc42f4ed1624dc8856505179f20dd1821	[Muscular hypotonia, developmental retardation, @PHENOTYPICFEATURE$ and mildly dysmorphic features: @DISEASE$ syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].	has_symptom
+966ef935c430f193dc33602fd3e8d12523983a57	[@PHENOTYPICFEATURE$, developmental retardation, @DISEASE$ and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].	false
+b6ec0a10ddb1ed5d1f3813587407227f0d3ff712	[@PHENOTYPICFEATURE$, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion @DISEASE$ (Phelan-McDermid Syndrome) as an important differential diagnosis].	false
+c73900aa959791511c4c4db6f22fa850f63b7a0c	[@PHENOTYPICFEATURE$, developmental retardation, speech delay and mildly dysmorphic features: @DISEASE$ syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].	false
+b569a20f217626fc0e323f74bdc3c56475342189	@DISEASE$ (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe @PHENOTYPICFEATURE$, poor motor tone and function, and autism spectrum disorder (ASD).	has_symptom
+d117f9cad1cf42f9e3339553081781b321eb5091	Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$ speech delays, poor motor tone and function, and @DISEASE$ (ASD).	false
+34eb9c42cb19b8b69b66431453e00286bf8d7ba6	Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion @DISEASE$, is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$ speech delays, poor motor tone and function, and autism spectrum disorder (ASD).	false
+3505abb92a7f54a4d1f83a3fbf2c6d5c070df4b6	Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$ @DISEASE$, poor motor tone and function, and autism spectrum disorder (ASD).	false
+7b511fd46f13c3617f1909c457e42efed924f8be	Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$ speech delays, poor motor tone and function, and autism spectrum disorder (@DISEASE$).	false
+098f21374c28213a44f417f85a456d162c412251	@DISEASE$ (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$ speech delays, poor motor tone and function, and autism spectrum disorder (ASD).	false
+cc5be9b6052d1d60c7777b3884114bd2059f4600	These patients shared clinical features common to @DISEASE$: developmental delay (11/12), @PHENOTYPICFEATURE$ (11/12), hypotonia (9/12), and feeding difficulties (7/12).	has_symptom
+b6bb6758c3feadc24a0bfca0a3e5c52154afbea9	deletion syndrome (known as @DISEASE$), that is characterized by severe expressive language and @PHENOTYPICFEATURE$, hypotonia, global developmental delay, and autistic behavior.	has_symptom
+9245a3c5877d926f962c491f45d4c8613aa5dc4f	[Early childhood @PHENOTYPICFEATURE$ in hereditary @DISEASE$--a case report].	has_symptom
+73e913f1370dc322fa39c526855afbd7dcd172a7	@DISEASE$ in a 5.5-year-old girl with unilateral @PHENOTYPICFEATURE$.	has_symptom
+84c8c896f457bfaf61d01d3721ee7663fa48da6f	@DISEASE$ (Sweet's syndrome) is a disorder characterized by acute onset of inflammatory @PHENOTYPICFEATURE$ associated with systemic features which include malaise, fever and neutrophilia.	has_symptom
+d03f3c5cd012c9c2d36917a46903aaa8f6b7b414	Acute febrile neutrophilic dermatosis (Sweet's syndrome) is a disorder characterized by acute onset of inflammatory @DISEASE$ associated with systemic features which include malaise, @PHENOTYPICFEATURE$ and neutrophilia.	false
+45f39e0eb2b28ed566543cac2ede61f41b093570	Acute febrile neutrophilic dermatosis (Sweet's @DISEASE$) is a disorder characterized by acute onset of inflammatory skin nodules associated with systemic features which include malaise, @PHENOTYPICFEATURE$ and neutrophilia.	false
+dd0028f17dc8dfead5c56abab9457142771668f2	@DISEASE$ (Sweet's syndrome) is a disorder characterized by acute onset of inflammatory skin nodules associated with systemic features which include malaise, @PHENOTYPICFEATURE$ and neutrophilia.	false
+eccac544f4fcb431ce5a1dcd7f13ac63c2a45e85	@DISEASE$ patients exhibit varying phenotypes, from having a very mild defect in DNA repair to being severely affected, and a few cases are also associated with the neurological degeneracy and @PHENOTYPICFEATURE$ of Cockayne's syndrome.	has_symptom
+37c1110fb0693a1cbb06854e81eff63bdcb93dcc	In addition to xeroderma pigmentosum (XP), mutations in the human @DISEASE$ gene cause an early onset of Cockayne syndrome (CS) in some patients (XP-G/CS) with characteristics, such as @PHENOTYPICFEATURE$ and a short life span.	has_symptom
+2b9244d97dc789ac6d312a7e85a75dbeb086df86	Mutations in the human dysferlin gene ( DYSF) cause autosomal recessive @PHENOTYPICFEATURE$ characterized by degeneration and weakness of proximal and/or distal muscles: @DISEASE$ (LGMD2B) and Miyoshi myopathy (MM).	has_symptom
+a881665987b156d02e2da4047c3bae57d0fc06f5	The clinical characteristics of a 16-year-old white girl with @DISEASE$ included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, @PHENOTYPICFEATURE$, and only slightly impaired mental and neurological development.	has_symptom
+97e941c61383b730371b6c8d26ad796c8053207f	The clinical characteristics of a 16-year-old white girl with mucolipidosis type III included early @PHENOTYPICFEATURE$, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, @DISEASE$, and only slightly impaired mental and neurological development.	false
+4ae0fd9ba2e53b30d416ac207c9fd12ed55c9bc6	The clinical characteristics of a 16-year-old white girl with @DISEASE$ included early @PHENOTYPICFEATURE$, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development.	false
+2b600c73a05123315ffb236476908f32c1a21c24	The clinical characteristics of a 16-year-old white girl with mucolipidosis type III included early @PHENOTYPICFEATURE$, severe @DISEASE$, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development.	false
+995cc5520bb0bf0371cba96c472f6284f9543146	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+649f63343d5217550088d6ed3d3d1f429ccfdde0	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+9df7287ae183c197906a4797f6fa011f5fb06450	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+2237e6ade43aed228693c19a7b2f84de184307ad	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+e2675279a966808b9cd18d9cfb31315f6db1f1c6	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+3e9f66e9e8809ea568bbfe8c3b86ab7eea501727	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, @DISEASE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+d4e4f30c1322786dfb692922c2ed66e85b201c08	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+177bc72a1ebf6cd77632a6e06cb969f00bb665dc	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+5160b93e73b4673fff3f2da8d19c944bac37d07d	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+d861164e9eb6727caf491ff5f6f2a2cc837925f9	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+fb12ce1d9cc6afddf78be763d748f08771e1586f	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+27d2e59bc916f6b31400c5e82a3a869d3492c963	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8de163fcb5c487861ebe5c1c2e7600a91e0f94f3	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+b2450e628c09c48248654c6ef969df08a86acb50	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+6edc4ca8810790b8a16db14b811c56ad260f515a	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @DISEASE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+350194d21f8aa18c64e2b88fc6c131b94d21e419	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @DISEASE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f06745f80306f4ceead92349f6c3f882fb6f24a8	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+9d7368e3fea3ae16c11ef1613d73b0d8424d08b8	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+3c4d9e8ff8511ed7865fc9971e3c77de931f9ffd	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, @DISEASE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+cfb8604b09e683c6c589b9cefdb42324061ea4ef	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+ae0f8929f43f6e0a9c3ed9df2821af5d2118a350	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @DISEASE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f11eebb567e1eceee03c10a72d863f5ad1864e5a	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+b79ef3709b2cda609a7c809e74f20d13e6bbabb8	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @DISEASE$, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+425b78fad593323e8774f7d13c1c55e8aaf87659	Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, @DISEASE$, and Vertebral, @PHENOTYPICFEATURE$, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis.	has_symptom
+59fbe7bcb97e83d4a740cf1f3ad4ec8b516ef242	The fourth case differs from the earlier reported cases; he has all the typical findings of @DISEASE$ but in addition he shows features not previously reported, namely exceptionally poor vision, @PHENOTYPICFEATURE$, monilethrix and pili annuli changes of the hair.	has_symptom
+cdec0fa62733987f0cf5b07ab05f4d828de82aa3	Measurements derived from five cases of @DISEASE$ were used to determine if @PHENOTYPICFEATURE$ could be objectified.	has_symptom
+227737140f924d34de27354b4e7c1b15e688e2a2	Third-digit metacarpal and phalangeal lengths in @DISEASE$ showed @PHENOTYPICFEATURE$ in all cases (5/5), and none of the cases (0/5) demonstrated a normal metacarpal to phalangeal ratio of 0.49.	has_symptom
+33ab84dd7f0890da6bbc76204f81d41150d7aa21	@PHENOTYPICFEATURE$ in a phenotypic male caused by @DISEASE$.	has_symptom
+8b4f926e3388206c3edb1b214a98f2d11cddc077	@DISEASE$: chronic urticaria, @PHENOTYPICFEATURE$ and immunoglobulin M monoclonal gammopathy.	has_symptom
+1aa96881fd775f4be03a24d4905c5e66fddeee23	@DISEASE$ (SchS) is an autoinflammatory disorder characterized by chronic urticaria, @PHENOTYPICFEATURE$, and monoclonal gammopathy.	has_symptom
+1b794a0beeff670a69e3a12ae7e2ca493f31da83	@DISEASE$ is a rare disorder characterized clinically by chronic urticarial rash accompanied by @PHENOTYPICFEATURE$, arthralgia or arthritis, bone pain and lymphoadenopathy and biochemically by monoclonal gammopathy and elevation of inflammatory indices.	has_symptom
+02589babe72958005e6efec573a0e194d3481fc0	@DISEASE$ (SchS) is a rare autoinflammatory disease characterized by urticarial exanthema, bone and joint alterations, @PHENOTYPICFEATURE$ and monoclonal gammopathy, which manifest mostly in the second half of life.	has_symptom
+3cb29b3a9146c934822e3f71ba1a2f1f67f4ab6c	arthralgia, bone pain, @PHENOTYPICFEATURE$, etc.) of @DISEASE$.	has_symptom
+78a19711aaab4f098856d2aaab68718eeee5b9ff	IL-1 receptor antagonist anakinra is usually highly efficient in @DISEASE$ (SS), a rare inflammatory condition associating urticaria, @PHENOTYPICFEATURE$, and IgM monoclonal gammopathy.	has_symptom
+1457393ce9d55522ef01e71493b8cb2a0da16b48	Included were cases of @DISEASE$, Still disease, systemic lupus erythematosus, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, @PHENOTYPICFEATURE$, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	has_symptom
+2a0e856ea7cf49ef6b1fdcf9c39ccd493126bb82	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, @DISEASE$, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+d9e91235e358af064465de28dc05bb52062ecc7c	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, @DISEASE$, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+12c7ed10f36d302fe9c89b67c75f601ef2a6acb1	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, @DISEASE$, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+3db8026341156f07953c3ed066cb7a6ab752ea0d	Included were cases of Schnitzler syndrome, @DISEASE$, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+a39727cada968c763951f3e18d2af44eb2da69b5	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, @DISEASE$, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+1ee9b34a9c68a1edd447633a832b1a56ad1d64cc	Included were cases of @DISEASE$, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+0381a3d79acfc18e490f32892effe2862fd4ad17	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, @DISEASE$, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+00681ed4cced4ffb8151ccaf319b80d9e3079519	@PHENOTYPICFEATURE$ associated with @DISEASE$: two cases of total anomalous pulmonary venous return.	has_symptom
+57cc5e7591b38aae405e522e5ada4dd3ae2bf3bf	Microdeletion on  17p11.2 in a @DISEASE$ patient with mental retardation and  @PHENOTYPICFEATURE$: first report from China.	has_symptom
+c292748ba192bf331fea3900cebdbc67082f62a3	Microdeletion on  17p11.2 in a Smith-Magenis syndrome patient with @PHENOTYPICFEATURE$ and  @DISEASE$: first report from China.	false
+f690e504dbd4630bd8b59405058f7d37833475af	Microdeletion on  17p11.2 in a @DISEASE$ patient with @PHENOTYPICFEATURE$ and  congenital heart defect: first report from China.	false
+6e27992d4786f792d114c4c64f7481420f889310	Prenatal diagnosis of @DISEASE$ in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and @PHENOTYPICFEATURE$.	has_symptom
+080819314fadf472cb9f029cde92143787a71594	@DISEASE$ should be suspected in a case of refractory early onset @PHENOTYPICFEATURE$ especially in the presence of subtle clinical clues.	has_symptom
+47f2142dfa6b2661f1887f2f6c735cfdd8259cc6	Authors recall that @DISEASE$ is a X linked recessive disorder beginning by @PHENOTYPICFEATURE$ in the early months of life.	has_symptom
+90eecda0fb7bc7dfd3cd3b673e9f0cdad290d5b7	@DISEASE$ and KdV syndrome may both present with hypotonia and abnormal hair, in addition to @PHENOTYPICFEATURE$ and failure to thrive.	has_symptom
+0b31a8bdad1057cf64782f89dd9c197ab6742b84	Menkes disease and KdV syndrome may both present with hypotonia and abnormal hair, in addition to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9573a79950bfedae6f7bd689fc2e9abc0e405796	@DISEASE$ and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and @PHENOTYPICFEATURE$.	false
+fd6365091490cdeeb9efaf30a7d03744d879324f	Menkes disease and KdV @DISEASE$ may both present with hypotonia and abnormal hair, in addition to seizures and @PHENOTYPICFEATURE$.	false
+c8dbda6a1c017ed6e70c741565ae887701c41b2d	@DISEASE$ presents in the first several months of life with failure to thrive, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+d6ad1489871dbd091de4d90c247f387cf00e86e8	Menkes disease presents in the first several months of life with @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+443315c9439e5204a1f238b7fc88b85e6e5d8a10	@DISEASE$ presents in the first several months of life with @PHENOTYPICFEATURE$, developmental delay, and seizures.	false
+23ed33003d6d7447b52d6278f1cca4842107c4cb	@DISEASE$ (MD) is a copper-deficient neurodegenerative disorder that manifests severe neurologic symptoms such as @PHENOTYPICFEATURE$, lethargic states, and hypotonia.	has_symptom
+c25e8d36d700d81ad2d6a146be30a57a8d45628c	We report the rare presentation of @DISEASE$ with a congenital skull fracture, intracerebral bleeding, and @PHENOTYPICFEATURE$.	has_symptom
+e34af9ec8f03ee14208fdce1484f4e2701b5135d	Here, we report a case of @DISEASE$ presented by intractable @PHENOTYPICFEATURE$ and infantile spasms.	has_symptom
+2a3a433cda5f135de912785a4488716663d32319	@PHENOTYPICFEATURE$ are a common feature in @DISEASE$, an X-linked genetic disorder of copper metabolism.	has_symptom
+990916c0b2f0bff8b676b32c52b71e5446517635	@DISEASE$ should be suspected in male infants with psychomotor deterioration and @PHENOTYPICFEATURE$, or when trauma is suspected from subdural hematoma and multiple fractures.	has_symptom
+34b8c78b08bcd85e8cff7f520d5a5e073771132d	Unusual @DISEASE$ variants such as this may escape recognition due to anomalies that appear inconsistent with the diagnosis, particularly prolonged survival and later onset of @PHENOTYPICFEATURE$.	has_symptom
+f2416a829009f4be83268da75c9af47ae617d629	Based on this observation, we suggest that @DISEASE$ should be considered in the diagnosis of peripheral neuropathy in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of @PHENOTYPICFEATURE$ and hypotonia of unknown origin.	has_symptom
+b1a87e501c51072ca4bab1ae6cc8968805989fba	Based on this observation, we suggest that @DISEASE$ should be considered in the diagnosis of @PHENOTYPICFEATURE$ in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of drowsiness and hypotonia of unknown origin.	false
+948818f4fad1c51efb081db1b1c3491a2808971a	Based on this observation, we suggest that pyruvate dehydrogenase deficiency should be considered in the diagnosis of @PHENOTYPICFEATURE$ in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of @DISEASE$ and hypotonia of unknown origin.	false
+82fb4d00a17987103f85a2487bce52cb00852e6b	@DISEASE$ (DM) is a dominantly inherited neuromuscular disorder characterised by @PHENOTYPICFEATURE$ and wasting.	has_symptom
+e362e8f0aa7cc7ad9dd6c1bf2244051c4fde8276	@DISEASE$ is an autosomal dominant muscular dystrophy not only associated with @PHENOTYPICFEATURE$, atrophy, and myotonia but also prominent multisystem involvement.	has_symptom
+938033f790b6fbe27a9815bc005af852a8feef33	Myotonic dystrophy is an autosomal dominant @PHENOTYPICFEATURE$ not only associated with @DISEASE$, atrophy, and myotonia but also prominent multisystem involvement.	false
+da734814819cf9f59dfc16bfc4b39fd28ff6c0c5	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement.	false
+8066fd9fb15a4d5da7f644749dcaebe207bf5e70	@DISEASE$ (DMs) are characterised by highly variable clinical manifestations consisting of @PHENOTYPICFEATURE$ and atrophy, and a wide spectrum of extramuscular manifestations.	has_symptom
+7079b1476c02974ac5ebf5e4bf3735567398037b	Correlation between distribution of @PHENOTYPICFEATURE$, electrophysiological findings and CTG expansion in @DISEASE$.	has_symptom
+898756c0551efba4aca083cdbf7528f2bc8f4803	@DISEASE$ (DM) are dominantly inherited muscle disorders characterized by myotonia, @PHENOTYPICFEATURE$, and wasting.	has_symptom
+3aa2620e678ac973a54b5897a5d36886cb91bfad	Core features of @DISEASE$ are myotonia, @PHENOTYPICFEATURE$, cataract, respiratory failure and cardiac conduction abnormalities.	has_symptom
+a6581d8918c5ed2c8c56dd341dc62b17cc46663e	Core features of @DISEASE$ are myotonia, muscle weakness, @PHENOTYPICFEATURE$, respiratory failure and cardiac conduction abnormalities.	false
+b5b53528cba03c92859815eb7e872f8b6f6f97c5	Core features of myotonic dystrophy are myotonia, @DISEASE$, @PHENOTYPICFEATURE$, respiratory failure and cardiac conduction abnormalities.	false
+ccf6f103eb87afb63425c4b3a9b647e2436f702e	@DISEASE$ (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including @PHENOTYPICFEATURE$ and myotonia.	has_symptom
+ad30a7af3487321c462d6244c562a64bd8bc80d0	Myotonic dystrophy (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0f0d2b02ac1228e9dd35f0f46f38da7b432e10fa	Myotonic dystrophy (DM) is an autosomal dominant, @DISEASE$ with a variable phenotypic expression including muscle weakness and @PHENOTYPICFEATURE$.	false
+dae402a0df55db926eec717fc6a4d9e60ffe424c	@DISEASE$ (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including muscle weakness and @PHENOTYPICFEATURE$.	false
+f554dd2ce8450ef7c4bb708a36770ac8b518a245	@DISEASE$ (DM), the most frequent hereditary myopathy in adults, is characterized clinically by @PHENOTYPICFEATURE$, myotonia, and systemic symptoms.	has_symptom
+0ca97e088b12ef91f74c42b7b4c506d0095a0be5	The father had mild manifestations of adult type @DISEASE$, including @PHENOTYPICFEATURE$ of the extremities, percussion myotonia and atrophy of the facial muscles.	has_symptom
+6a82fc59955aefc9d13bb9fc15ad2b05f0ebb951	@DISEASE$ is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia.	has_symptom
+5dac72ff2f1a04c2038e818982ecfeda4c829594	Myotonic dystrophy is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly @DISEASE$, muscle weakness and @PHENOTYPICFEATURE$.	false
+033c268cc1c631663d4ea4f49926615c410b79f7	@DISEASE$ is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly progressive muscular dystrophy, muscle weakness and @PHENOTYPICFEATURE$.	false
+5af36c3ef6d2a300361b6eadd5b380575cd04ea6	Myotonic dystrophy is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly progressive muscular dystrophy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+475fe6ad4ef8fc6a9675b4a96a3726776a1a8ad4	The common manifestations of @DISEASE$, such as bone pain, fatigue and @PHENOTYPICFEATURE$, may be non-specific and are often initially ignored or missed by patients and medical practitioners.	has_symptom
+0aaedea12dbfbfa3881fe67441ee88d6fce198b3	The following phenotypes were differentiated: (1) adult onset @DISEASE$; (2) subacute myopathy of the respiratory muscles; (3) severe generalised myopathy; and (4) minimal variant @PHENOTYPICFEATURE$.	has_symptom
+e604d4df87608e2fc2a1cb1d4f487bd39335735a	We report a girl with @DISEASE$, presenting @PHENOTYPICFEATURE$, with growth hormone deficiency due to posterior pituitary ectopia.	has_symptom
+b8ba553f1ba1ac926dd005e8492f1b6766e12490	A review on @PHENOTYPICFEATURE$ and growth hormone deficiency in @DISEASE$ is conducted.	has_symptom
+580459dc54a0cc4cba8ff52cc0dd15d71ed0a79a	A 17-year-old male diagnosed as having Cat Eye Syndrome (@DISEASE$) with hypogonadotropic hypogonadism showed @PHENOTYPICFEATURE$ and no development of secondary sex characteristics.	has_symptom
+501f87590793bd831c733c5f24aa6b61c3c34c9c	The present study was conducted to compare the effectiveness of assertiveness group training on social anxiety (@DISEASE$) between @PHENOTYPICFEATURE$ and hearing impaired adolescents.	has_symptom
+256456617d7146d11bfb50f94ca18e1511b58c0d	ANCOVA showed that the effectiveness of assertiveness group training on SAD is different between @PHENOTYPICFEATURE$ and hearing impaired participants, i.e. assertiveness group training was effective on improvement of @DISEASE$ in hearing impaired participants but not deaf ones.	has_symptom
+684e993a47a03cef596c9541d102610f1d275eae	ANCOVA showed that the effectiveness of assertiveness group training on SAD is different between deaf and hearing impaired participants, i.e. assertiveness group training was effective on improvement of @DISEASE$ in hearing impaired participants but not @PHENOTYPICFEATURE$ ones.	has_symptom
+8c029dc77244fdd63122207b9359e75adcdb81b6	Silver-Russell syndrome (@DISEASE$) is characterized by pre- and post-natal growth restriction that spares head growth, feeding difficulties, and variable @PHENOTYPICFEATURE$ without major malformations.	has_symptom
+33035779bd49297158cfb58ba558dcce00a161aa	@DISEASE$ is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by intellectual disability, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, @PHENOTYPICFEATURE$ (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech.	has_symptom
+5246c6dfedc9f3cc432d44dc91b3b0c672165167	@DISEASE$ is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by @PHENOTYPICFEATURE$, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, facial dysmorphism (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech.	false
+46a86df1981c98fdeac6fbad26a635efa2c058d1	Snyder-Robinson syndrome is a rare form of X-linked intellectual disability caused by mutations in the spermine synthase (SMS) gene, and characterized by @PHENOTYPICFEATURE$, thin habitus with diminished muscle mass, osteoporosis, kyphoscoliosis, @DISEASE$ (asymmetry, full lower lip), long great toes, and nasal or dysarthric speech.	false
+02c5573c3b71f91ab47bc55385cace9b71af4097	Silver-Russell syndrome (@DISEASE$) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic @PHENOTYPICFEATURE$.	has_symptom
+2d60884879081d8ba22796a31ed6faa44b71e10d	Silver-Russell syndrome (@DISEASE$) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$ and body asymmetry.	has_symptom
+753c75b72416e9021f7555cce8f0a65954089601	@DISEASE$ is caused by the deficiency of serum copper and of copper-dependent enzymes, in various tissues except liver which characterized by neurologic degeneration and @PHENOTYPICFEATURE$, connective tissue and vascular defects, characteristic brittle and depigmented hair, and death in early childhood.	has_symptom
+576383a112b69813cd459a9b9d8e0938095a758a	Because the clinical spectrum of @DISEASE$ is wide, males with @PHENOTYPICFEATURE$ and connective tissue abnormalities should be evaluated for biochemical evidence of defective copper transport.	has_symptom
+f42e54ac390c97dda1ac735a86aad461d1f97787	Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, @DISEASE$ and X-linked @PHENOTYPICFEATURE$ loci).	has_symptom
+9fc21ea658c5d741a1644b2305f0b14663d9e4eb	@DISEASE$ is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, @PHENOTYPICFEATURE$, bone and connective tissue lesions, and hypothermia.	has_symptom
+d81a2145e107cfa560457d5026b5f0e38e33ea18	Disturbed copper homeostasis occurs in patients with @DISEASE$, an X-linked disorder characterized by @PHENOTYPICFEATURE$, neurodegeneration, connective tissue disorders, and early childhood death.	has_symptom
+b7745b08ef95640d6b258bbc804edd1e1e83ae12	@DISEASE$ is a rare, autosomal recessive disorder characterized by neuronal degeneration, abnormal hair, malformed connective tissue, @PHENOTYPICFEATURE$, and a life span of three years.	has_symptom
+59db9f6fde6c483229372961a0b732b312a2bfd9	The @DISEASE$ (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and @PHENOTYPICFEATURE$.	has_symptom
+c1e57a1c96cf0795bb4c74578669ebffc313a520	The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2319e344dd6a61f8abbe8079f751760caef13cd5	The @DISEASE$ (OMIM # 614230) has been recently described and is primarily characterized by @PHENOTYPICFEATURE$ and facial dysmorphism.	false
+437c16d63cc7f1ccb62056adf72bc50b127f9792	This report emphasizes the diagnostic value of @PHENOTYPICFEATURE$, including hand stereotypies, Parkinsonism, and dystonia, in adults with @DISEASE$.	has_symptom
+65c22481f0ab2313a9da396089f9d4de470197ef	@DISEASE$ (RTT) is a pervasive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene associated with severe intellectual disability, @PHENOTYPICFEATURE$, and autistic-like behaviors.	has_symptom
+75b75bc3623c182d7f73323a8ec5541c794a4c3a	Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene associated with severe @PHENOTYPICFEATURE$, @DISEASE$, and autistic-like behaviors.	false
+a0a342d4488fb869535af38018eda6205598a98b	@DISEASE$ (RTT) is a pervasive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene associated with severe @PHENOTYPICFEATURE$, movement disorders, and autistic-like behaviors.	false
+ba9286dbb7531bbc077facb0424e00f22d557a8a	Trihexyphenidyl for acute life-threatening episodes due to a dystonic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+31f925cffaf83c828cbc67877f546ab60b296a47	@DISEASE$ and associated @PHENOTYPICFEATURE$.	has_symptom
+496215389bb87d12b827af7a31360890dc066987	@DISEASE$ (RTT) is an intellectual deficit and @PHENOTYPICFEATURE$ that develops during early childhood in girls.	has_symptom
+e5029fc31eab0c986e044df53a678f3ea259f36c	The aim of this publication is to characterize and describe @PHENOTYPICFEATURE$ in @DISEASE$ based on a revision of the literature and the personal experience of the author.	has_symptom
+8e0916a353539c4e188629d1c84b8d6ee19c5a4c	@DISEASE$ and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, microcephaly, speech disturbance, @PHENOTYPICFEATURE$ with gait and/or truncal ataxia, and occasionally a similar facial appearance.	has_symptom
+5963fdc3a202de6366b1cd031a473b041fb2130a	Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe @PHENOTYPICFEATURE$, microcephaly, speech disturbance, movement disorders with gait and/or truncal @DISEASE$, and occasionally a similar facial appearance.	false
+c7b03413328292609776653e9b5c03ed549272ce	@DISEASE$ and Angelman syndrome are neurodevelopmental disorders characterized by severe @PHENOTYPICFEATURE$, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance.	false
+3f395f02f3e37ca94a05e61ed8fdcc38a7f8f4f7	Rett syndrome and @DISEASE$ are neurodevelopmental disorders characterized by severe intellectual disability, @PHENOTYPICFEATURE$, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance.	false
+ea59ed65b19698607c5966ea2b503d434ae9492f	Rett syndrome and @DISEASE$ are neurodevelopmental disorders characterized by severe @PHENOTYPICFEATURE$, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance.	false
+744b5404d7c3057b6a3ae110ec4a24427e1d37b5	Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, @PHENOTYPICFEATURE$, speech disturbance, @DISEASE$ with gait and/or truncal ataxia, and occasionally a similar facial appearance.	false
+f38ea632b2482cf89c496213580a1c3a62136b40	Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe @PHENOTYPICFEATURE$, microcephaly, speech disturbance, @DISEASE$ with gait and/or truncal ataxia, and occasionally a similar facial appearance.	false
+cdf4c20f515680cd30d458cac82cdee71c25dce4	Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, @PHENOTYPICFEATURE$, speech disturbance, movement disorders with gait and/or truncal @DISEASE$, and occasionally a similar facial appearance.	false
+88c6c8ec98deca17f39f629ddb41cdba867d3d06	@DISEASE$ and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, @PHENOTYPICFEATURE$, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance.	false
+816828602787959a8feee8388b58fd8b1828eca9	The difficulty in differentiating some typical nonepileptic behavioral features and @PHENOTYPICFEATURE$ of patients with @DISEASE$ from seizures was overcome using prolonged video-polygraphic recordings in our case.	has_symptom
+24efb4c3c541eeba3bf1e2cf4dcd718eb0a1d5c3	The difficulty in differentiating some typical nonepileptic behavioral features and @DISEASE$ of patients with Rett syndrome from @PHENOTYPICFEATURE$ was overcome using prolonged video-polygraphic recordings in our case.	false
+f411a31554dfbc7a4241485a3bfcc7809c9d3f85	The difficulty in differentiating some typical nonepileptic behavioral features and movement disorders of patients with @DISEASE$ from @PHENOTYPICFEATURE$ was overcome using prolonged video-polygraphic recordings in our case.	false
+5dd06d394d5dfb206bdb9a209d343c1e3ba726c2	Epileptic seizures, @PHENOTYPICFEATURE$, and breathing disturbances in @DISEASE$: diagnostic relevance of video-polygraphy.	has_symptom
+ccd52793cf11d605d6efcc77c858fd2741c849f2	@PHENOTYPICFEATURE$, @DISEASE$, and breathing disturbances in Rett syndrome: diagnostic relevance of video-polygraphy.	false
+ee18e1e2ee276b164fda3b8e70b4acaac3dfd9d6	@PHENOTYPICFEATURE$, movement disorders, and breathing disturbances in @DISEASE$: diagnostic relevance of video-polygraphy.	false
+8c2dcb76b703e5196ab070e01218b6537ea1e710	Stereotypies in @DISEASE$ (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of @PHENOTYPICFEATURE$ in adults are very scant.	has_symptom
+e9f8388ce7fed67ce16bc18b346437fb771e8a54	Therapeutic advances are awaited for early infantile epileptic encephalopathy, @DISEASE$, progressive @PHENOTYPICFEATURE$ epilepsies and Kojewnikow syndrome.	has_symptom
+7ffcd68c38eff115589f398d73df870fa07b044d	We classified 28 patients with severe @PHENOTYPICFEATURE$ epilepsy in infancy (SME) according to the presence or absence of @DISEASE$ and/or atypical absences.	has_symptom
+09d085baa0a90922cb79352af862939ec4c1624e	We report a patient with @DISEASE$ who underwent muscle biopsy for suspected mitochondrial disease (@PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, MERRF).	has_symptom
+d325ff7961d6202be444b4e9498d6bf58984a3fc	@DISEASE$, early infantile epileptic encephalopathy, and benign and severe infantile @PHENOTYPICFEATURE$ epilepsies: a critical review and personal contributions.	has_symptom
+bbbfba8a46bec8ed0fd2c099a0eb5ae6addb60ee	@DISEASE$ or neonatal @PHENOTYPICFEATURE$ encephalopathy 2. Early epileptic syndrome with bursts of suppression or Otahara's syndrome.	has_symptom
+c3f3e326ee886c29ba936b020d35ef6734ea7231	@DISEASE$ or neonatal myoclonic @PHENOTYPICFEATURE$ 2. Early epileptic syndrome with bursts of suppression or Otahara's syndrome.	false
+8e7f01656a22e8f50e24eed4eee4bd8b757c7414	Early myoclonic encephalopathy or neonatal myoclonic @PHENOTYPICFEATURE$ 2. Early epileptic syndrome with bursts of suppression or Otahara's @DISEASE$.	false
+dd4e921ca2b03cdbabd0f0007786a0bf261107ff	Early myoclonic encephalopathy or neonatal @DISEASE$ @PHENOTYPICFEATURE$ 2. Early epileptic syndrome with bursts of suppression or Otahara's syndrome.	false
+c537a8137bc56a6fc085aef18b17231a040ad668	Since age 12 years, a 25-year-old woman had a syndrome with @DISEASE$, cerebellar signs, and spontaneous @PHENOTYPICFEATURE$.	has_symptom
+1906e78de04434fdffa34dfa0bd8098cdf2c5591	Since age 12 years, a 25-year-old woman had a syndrome with @DISEASE$, @PHENOTYPICFEATURE$, and spontaneous myoclonus.	false
+c8ac8de5556c7a6163b2cd65b2d2c0acdaa209e4	Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, @PHENOTYPICFEATURE$, and spontaneous @DISEASE$.	false
+1539f75e836b56267f44d137364957742a994aa7	This leads to the following five groups of conditions: (1) myoclonus without encephalopathy and without epilepsy; (2) encephalopathies with non-epileptic myoclonus; (3) progressive encephalopathies with @DISEASE$ or epileptic syndromes (Progressive myoclonus epilepsies); (4) epileptic encephalopathies with myoclonic seizures; (5) @PHENOTYPICFEATURE$ epilepsies.	has_symptom
+27618c685cc9addd1a2165b7b4232b35182c4054	This leads to the following five groups of conditions: (1) myoclonus without encephalopathy and without epilepsy; (2) encephalopathies with non-epileptic myoclonus; (3) progressive encephalopathies with @DISEASE$ or epileptic syndromes (Progressive @PHENOTYPICFEATURE$ epilepsies); (4) epileptic encephalopathies with myoclonic seizures; (5) myoclonic epilepsies.	has_symptom
+d5e8a3194765eabcb9c7c44a091e6af2c64c9e08	3. Myoclonias: benign @PHENOTYPICFEATURE$ epilepsy in infancy, Dravet's severe @DISEASE$, myoclonic-astatic epilepsy and a myoclonic state in non-progressive encephalopathies; and 4. Partial seizures: non-idiopathic location-related epilepsies, malign epilepsy with migratory partial seizures and benign infantile familial and non-familial seizures.	has_symptom
+c37f05e876e863b92b371a047f0bf1ce22a062f5	3. Myoclonias: benign myoclonic epilepsy in infancy, Dravet's severe @DISEASE$, @PHENOTYPICFEATURE$-astatic epilepsy and a myoclonic state in non-progressive encephalopathies; and 4. Partial seizures: non-idiopathic location-related epilepsies, malign epilepsy with migratory partial seizures and benign infantile familial and non-familial seizures.	has_symptom
+2bc435d6dac34bfe1dbb8096659c7b52dc104fd3	3. Myoclonias: benign myoclonic epilepsy in infancy, Dravet's severe @DISEASE$, myoclonic-astatic epilepsy and a myoclonic state in non-progressive encephalopathies; and 4. Partial seizures: non-idiopathic location-related epilepsies, malign epilepsy with migratory partial seizures and benign infantile familial and non-familial @PHENOTYPICFEATURE$.	false
+9be947ad3ec4ab442680d01df2020febfbd5f868	3. Myoclonias: benign @DISEASE$ epilepsy in infancy, Dravet's severe myoclonic epilepsy, myoclonic-astatic epilepsy and a myoclonic state in non-progressive encephalopathies; and 4. Partial seizures: non-idiopathic location-related epilepsies, malign epilepsy with migratory partial seizures and benign infantile familial and non-familial @PHENOTYPICFEATURE$.	false
+2bc668548e513baaa21e8e655d2e1710bafc1841	3. Myoclonias: benign myoclonic epilepsy in infancy, Dravet's severe myoclonic epilepsy, @DISEASE$-astatic epilepsy and a myoclonic state in non-progressive encephalopathies; and 4. Partial seizures: non-idiopathic location-related epilepsies, malign epilepsy with migratory partial seizures and benign infantile familial and non-familial @PHENOTYPICFEATURE$.	false
+e2ff4f0aa87852e176d849f3d310e05f9600f36a	@DISEASE$, early infantile epileptic encephalopathy, benign @PHENOTYPICFEATURE$ epilepsy, infantile spasms.	has_symptom
+cdbab0019e70cf2177a1a8716345006cff13ec0b	In recent years, four neonatal, infantile, and early myoclonic syndromes have been proposed: early @PHENOTYPICFEATURE$ encephalopathy (EME), early infantile epileptic encephalopathy (EIEE), benign infantile myoclonic epilepsy (BIME), and severe infantile @DISEASE$ (SIME).	has_symptom
+3f3c68d1a198724cbf7f5c99ab422484edfd56e3	In recent years, four neonatal, infantile, and early myoclonic syndromes have been proposed: early myoclonic encephalopathy (EME), early infantile epileptic encephalopathy (EIEE), benign infantile @PHENOTYPICFEATURE$ epilepsy (BIME), and severe infantile @DISEASE$ (SIME).	has_symptom
+e78534f9c2e246c58ea9d89897032ed51d6e6488	In recent years, four neonatal, infantile, and early @PHENOTYPICFEATURE$ syndromes have been proposed: early myoclonic encephalopathy (EME), early infantile epileptic encephalopathy (EIEE), benign infantile myoclonic epilepsy (BIME), and severe infantile @DISEASE$ (SIME).	has_symptom
+71c7939ebf5c129f1f040f1f289f2cc7e0319239	In recent years, four neonatal, infantile, and early myoclonic syndromes have been proposed: early myoclonic @PHENOTYPICFEATURE$ (EME), early infantile epileptic encephalopathy (EIEE), benign infantile @DISEASE$ epilepsy (BIME), and severe infantile myoclonic epilepsy (SIME).	false
+9dadf6823b51698a44678b0963343d0d253ba220	In recent years, four neonatal, infantile, and early @DISEASE$ syndromes have been proposed: early myoclonic @PHENOTYPICFEATURE$ (EME), early infantile epileptic encephalopathy (EIEE), benign infantile myoclonic epilepsy (BIME), and severe infantile myoclonic epilepsy (SIME).	false
+3a850e409d1bc804bbb2b10d2adb889aa2632dfa	In recent years, four neonatal, infantile, and early myoclonic syndromes have been proposed: early @DISEASE$ @PHENOTYPICFEATURE$ (EME), early infantile epileptic encephalopathy (EIEE), benign infantile myoclonic epilepsy (BIME), and severe infantile myoclonic epilepsy (SIME).	false
+be5a6d0848c7d5ecff92266d6f3f253627d1cd7a	In recent years, four neonatal, infantile, and early myoclonic syndromes have been proposed: early myoclonic @PHENOTYPICFEATURE$ (EME), early infantile epileptic encephalopathy (EIEE), benign infantile myoclonic epilepsy (BIME), and severe infantile @DISEASE$ (SIME).	false
+155b87c0a2eeaa8b9eda7c0f9b357d896f21f67a	It focuses mainly on the more common conditions, bronchopulmonary dysplasia, bronchiolitis and preschool wheezing, asthma, @PHENOTYPICFEATURE$ and sleep, and highlights some of the rarer conditions such as @DISEASE$ and interstitial lung disease (ILD).	has_symptom
+dc24048fc2c92ae4caffd79e8aa52bef3641c0e9	The differential diagnosis includes cystic fibrosis (CF), immunodeficiency disorders, complement deficiency, allergic bronchopulmonary aspergillosis, alpha-1 antitrypsin disease, repeated aspiration pneumonia, foreign body, bronchial carcinoid, unresolved right middle lobe @PHENOTYPICFEATURE$, and @DISEASE$ (PCD).	has_symptom
+4be0c2582da547b2f185f9468a77a0a707c7f969	The differential diagnosis includes cystic fibrosis (CF), immunodeficiency disorders, complement deficiency, allergic bronchopulmonary aspergillosis, alpha-1 antitrypsin disease, repeated aspiration pneumonia, foreign body, bronchial carcinoid, unresolved right middle lobe @PHENOTYPICFEATURE$, and primary ciliary dyskinesia (@DISEASE$).	has_symptom
+6c949ea0fd8d60293ffb4bed370ff1e5b1ebbca1	From the literature review and our findings we conclude that ciliary investigation is indicated (a) in patients who remain suspected of having @DISEASE$ despite thorough clinical examination and exclusion of other disorders such as cystic fibrosis, allergy, immunologic disorders and alpha1-antitrypsin deficiency; (b) in patients with situs inversus suffering from chronic and/or recurrent airway infections; and (c) in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after exclusion of hyaline membrane disease, aspiration syndromes, neonatal @PHENOTYPICFEATURE$, and pneumothorax as well as cardiovascular and metabolic diseases).	has_symptom
+b5fb647361087db848b858068496f57764683068	Early childhood @PHENOTYPICFEATURE$ and underlying conditions such as immunodeficiency, @DISEASE$(PCD), and congenital lung pathology should be considered in the etiology.	has_symptom
+1470a502cda8c5d644078152ed5dd65d3a7f1826	Early childhood @PHENOTYPICFEATURE$ and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(@DISEASE$), and congenital lung pathology should be considered in the etiology.	has_symptom
+71cb07613ef7a58c2ba3bd9372005fb97b81cf72	@DISEASE$ is a rare multisystem disease characterized by @PHENOTYPICFEATURE$, vestibuloauditory dysfunction, and vasculitis.	has_symptom
+cf5daef655a42ab38f7e4ccffb9c5a8b84bb9498	@DISEASE$ (CS) is defined by the combination of hearing loss, vertigo, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel vasculitis.	has_symptom
+c0658a0431d8b9c17a3096f8e03d19a3aaab75cd	@DISEASE$ (CS) is defined by the combination of hearing loss, @PHENOTYPICFEATURE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel vasculitis.	false
+ea7beb87370b9e2cb374f9de371ddc4be4f17fe2	Cogan's syndrome (CS) is defined by the combination of hearing loss, vertigo, and @DISEASE$ of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	false
+796adc15181e225c8b2ab5d1fde05cae3a460079	Cogan's syndrome (CS) is defined by the combination of @DISEASE$, vertigo, and ocular inflammation of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	false
+ad223d116175f867cb15d8200eabc30d94c66720	@DISEASE$ (CS) is defined by the combination of hearing loss, vertigo, and ocular inflammation of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	false
+6149c95d366b0e2436c52205e0e25c739c790d7a	Cogan's syndrome (CS) is defined by the combination of hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$ of uncertain cause, and can be associated with variable vessel vasculitis.	false
+a608ac436b21c21bf970a49e19355643581b7627	Cogan's syndrome (CS) is defined by the combination of @DISEASE$, @PHENOTYPICFEATURE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel vasculitis.	false
+33d71209d36d06cf4d3a374d75e695687327b76e	@DISEASE$ is an uncommon disease characterized by @PHENOTYPICFEATURE$, vestibuloauditory dysfunction and symptoms of systemic disease.	has_symptom
+d9aded4be0cf831f2c0384122b76cd87448cd24c	@DISEASE$ (CS) is a rare autoimmune vasculitis characterized by @PHENOTYPICFEATURE$ and sensorineural hearing loss.	has_symptom
+8e2ae9eafafb0f082dc88805a27081c276f5a2c8	Cogan's syndrome (CS) is a rare autoimmune vasculitis characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+52a462d41e6ddb6cd6604bb144a4f65c95c9c9ff	@DISEASE$ (CS) is a rare autoimmune vasculitis characterized by ocular inflammation and @PHENOTYPICFEATURE$.	false
+b53cb493400dc136b395eb206f28299c68a2c8b4	Cogan's syndrome (CS) is a rare @DISEASE$ characterized by ocular inflammation and @PHENOTYPICFEATURE$.	false
+4979f7ec56eb6c13cf02654ffc0f929369c59acb	@DISEASE$: autoimmune-mediated audiovestibular symptoms and @PHENOTYPICFEATURE$.	has_symptom
+f497886b9cd6e6cd5bc26f9236f79cfc68511965	@DISEASE$ is an inflammatory disease that is characterized by @PHENOTYPICFEATURE$ (typically interstitial keratitis) and is associated with M?ni?re-like vestibuloauditory dysfunction.	has_symptom
+80303b46a9d6a3f59aecc5d688b243d036775119	Faciocardiorenal syndrome (FCRS), also named @DISEASE$, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and @PHENOTYPICFEATURE$.	has_symptom
+ad85a8b4bc9a7bfe2a6c04bcfaeaf9f552f5ba35	@DISEASE$ (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and @PHENOTYPICFEATURE$.	has_symptom
+d3068ab45391be7a5725a0426734dcf50601ce23	Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, @PHENOTYPICFEATURE$, renal defects and @DISEASE$.	false
+93a760d8e989f0c090c093d99c34ca32d2dad853	Faciocardiorenal syndrome (FCRS), also named @DISEASE$, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, @PHENOTYPICFEATURE$, renal defects and mental retardation.	false
+5419b2eca536147273ebc502d8451862808d1447	@DISEASE$ (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, @PHENOTYPICFEATURE$, renal defects and mental retardation.	false
+1a7adb0c7923780d50fa691b4a5f5dd3f38ba7a8	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like @PHENOTYPICFEATURE$, dysarthria and nail deformity, ignoring other extra and intra oral finding.	has_symptom
+eefdf76cf5b74f18e735d61c5beeaba046c24ac6	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar @DISEASE$ is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like ataxia, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+89c727471a682775a70499dbdaac3d1136f16a64	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar @DISEASE$ is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like ataxia, @PHENOTYPICFEATURE$ and nail deformity, ignoring other extra and intra oral finding.	false
+252318ee3827992637a4bc29c81b7f5c28da224b	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like @DISEASE$, @PHENOTYPICFEATURE$ and nail deformity, ignoring other extra and intra oral finding.	false
+f3f7dc0401637ed4c4d2dc54bd42f267323002db	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having blindness in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like ataxia, @PHENOTYPICFEATURE$ and nail deformity, ignoring other extra and intra oral finding.	false
+c1f212414886e5a4866479bf26b360e0316423d3	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like ataxia, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+2a5d04dddb4df1bbfbb99f49c3893368dca36d48	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar keratosis is reported, although he had some other manifestation of oculodentodigital dysplasia (ODDD) like @DISEASE$, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+ffba92971043f74e3db333446b0ba6cb092e9cdc	@PHENOTYPICFEATURE$ and post-@DISEASE$ syndrome: past, present, and future.	has_symptom
+97bb31c89869ef0dd613e9aff3222fad61cd545a	@DISEASE$ (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, @PHENOTYPICFEATURE$, hypoplastic nose, orofacial clefts, and small mouth.	has_symptom
+f46affb36eb4867a5a5ac2a7d6e0b4b49e89c553	@DISEASE$ (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, @PHENOTYPICFEATURE$, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth.	false
+7a39c8f5b8e26837271f98f2db9f496e32139bd3	Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive @DISEASE$ characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, @PHENOTYPICFEATURE$, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth.	false
+e6d3e19a0e31c85f287c82369e6885d89b6c524c	Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, @PHENOTYPICFEATURE$, and typical face with short palpebral fissures, @DISEASE$, hypoplastic nose, orofacial clefts, and small mouth.	false
+38b4ee07fe83e5d33b3cc64a793770bf522f2946	@DISEASE$ (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death, severe popliteal webbing, oligosyndactyly, @PHENOTYPICFEATURE$, orofacial clefts, intraoral filiform bands and genital anomalies.	has_symptom
+1501af9699342653acf93e33b1082e99291fab5c	Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death, severe popliteal webbing, oligosyndactyly, @DISEASE$, orofacial clefts, intraoral filiform bands and @PHENOTYPICFEATURE$.	false
+30bce320c34c6a38015e96351e68952a6b206fb0	@DISEASE$ (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death, severe popliteal webbing, oligosyndactyly, ankyloblepharon, orofacial clefts, intraoral filiform bands and @PHENOTYPICFEATURE$.	false
+4a9c298aee371857106e0b5d424a35ebf52b3aaa	Initially described in 1972, @DISEASE$ (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, @PHENOTYPICFEATURE$, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies.	has_symptom
+ff8f0a1144d359ee26eda79971e875d441a52b2f	Initially described in 1972, @DISEASE$ (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, @PHENOTYPICFEATURE$, and other anomalies.	false
+6286c016c9d839923e495fdcd756b91160ef3d66	Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, @DISEASE$, filiform bands between the jaws, @PHENOTYPICFEATURE$, and other anomalies.	false
+a0a67555efc0d66c07a542f35cf134b331ba9d5e	Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an @DISEASE$ combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, @PHENOTYPICFEATURE$, and other anomalies.	false
+3bdc1d0a7d41d2c8dc32eed099d76851810c68a4	Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, @DISEASE$, cleft lip and palate, filiform bands between the jaws, @PHENOTYPICFEATURE$, and other anomalies.	false
+cc8d5e89a241e0274623643d82b17615714512b2	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	has_symptom
+4bb0565d79881994bc0b8c0f0b75fdfed410ec8e	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+90544348a6cc33a7971ef10d0d930d782f369886	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+c4b79c2d0d480c46572f1ee69d9e29f1e66ab96f	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+90e07b8f282354aa7a92b19ea8075d9d80da8217	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, @DISEASE$, syndactyly, and other ectodermal anomalies.	false
+7f461920509761bb4b49ed7443232b715d156c95	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, @DISEASE$, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+064eb0b24cc365e89ee32262ff580afca24ed2fa	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, @DISEASE$, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+98d36c18e252ceb2fcccfdb733a4e00e505a2670	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+a7653506c64b66be07fbc0a32129b70d1f56586d	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, @DISEASE$, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+0e67cd4d64ed899ad5d2b030106e0537040bf687	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare skeletal dysplasia characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	has_symptom
+7154563efb4e135130859ea7d90dcd619d3d7fe9	We describe a fetus with @DISEASE$ (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	has_symptom
+1ccd908c862d4a9a9cf9a1c3f9c0828feb9f9d1e	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare @PHENOTYPICFEATURE$ characterized by platyspondyly, extremely short limbs, and mild brachydactyly.	false
+8017797f2a3505ba51b8e4e2b627a183ba6d0073	We describe a fetus with @DISEASE$ (PLSD-T), a rare @PHENOTYPICFEATURE$ characterized by platyspondyly, extremely short limbs, and mild brachydactyly.	false
+f95f55dc23371766a19db028b8a8e00b1bf815b2	We describe a fetus with @DISEASE$ (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+f7910825eca37c9e90cb423a682898bbae89058f	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+75fa9c32e981c245323cfd56c8efecb1ddf0eef4	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely @DISEASE$, and mild @PHENOTYPICFEATURE$.	false
+8dc82ba555137bf723e9d489f9a61f6f5c1cc63a	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare @PHENOTYPICFEATURE$ characterized by platyspondyly, extremely @DISEASE$, and mild brachydactyly.	false
+31033628fd26adbf5774889cb8d94358d15655b6	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f72644978ff674d9410e4001a5b0d5c803b9e49f	In most patients, it is associated with other congenital defects including situs inversus, malrotation, and @PHENOTYPICFEATURE$ or occurs as part of the @DISEASE$ or polysplenia syndrome.	has_symptom
+82a2fc24e35941048483d54bdb87ce4867e122d9	Infants in the steroid group did better despite the fact that this group included 5 infants with @PHENOTYPICFEATURE$-polysplenia-@DISEASE$, a subgroup that might have been expected to have a poor prognosis.	has_symptom
+239e1ae4365eb254b0ad1be24fef59e40cf4fa4b	@DISEASE$ is an infectious disease whose initial symptoms are fever, fatigue, headaches, @PHENOTYPICFEATURE$, a stiff neck and pains in the limbs.	has_symptom
+f40adb603c0f0e3d31ac8f5d993f4ce48b329767	We report a very rare case of @DISEASE$ presented with @PHENOTYPICFEATURE$ and facial palsy.	has_symptom
+cfb378f328c79f719010f7694cb4ec3be6d35ddd	@DISEASE$ is a worldwide disease, characterized by @PHENOTYPICFEATURE$, fever, vomiting, and the passage of blood- and mucus-streaked stools.	has_symptom
+b07ad2406f0589f737c3c24d9a502b03041c66f4	@DISEASE$ is a worldwide disease, characterized by abdominal pain, @PHENOTYPICFEATURE$, vomiting, and the passage of blood- and mucus-streaked stools.	false
+562af0e7ce43638ea7ed9a78b8381ebdb9defb8f	@DISEASE$ is a worldwide disease, characterized by abdominal pain, fever, @PHENOTYPICFEATURE$, and the passage of blood- and mucus-streaked stools.	false
+eb1bca62bf80c8d069e033bb357d72b60fee7886	Shigellosis is a worldwide disease, characterized by @DISEASE$, fever, @PHENOTYPICFEATURE$, and the passage of blood- and mucus-streaked stools.	false
+b53857bfd1e2443d4b53b27039846f727aef7d90	Shigellosis is a worldwide disease, characterized by @DISEASE$, @PHENOTYPICFEATURE$, vomiting, and the passage of blood- and mucus-streaked stools.	false
+87392efc53d098ddd8da618f53e93ce7e1603c5f	@PHENOTYPICFEATURE$ and @DISEASE$ can be treated by intracardiac ablation.	has_symptom
+840ea02fddcd1db75969d7fc8679030b3aa9112b	For palpitations, ILRs documented @PHENOTYPICFEATURE$ or @DISEASE$ in 60.4%.	has_symptom
+1516a970ac67c072bc6d7e67ee297c6e144c2201	[Hemodynamics in coronary failure--a problem of @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+9b34b36ef5491be109fec62ace69743469a4b0c3	A commentary on Baranchuk: "Sleep apnea, @PHENOTYPICFEATURE$, and @DISEASE$".	has_symptom
+12a1c34a6ac902cb5f6f82d0dec96dc242fd7605	[Hemodynamics in patients with @PHENOTYPICFEATURE$ and @DISEASE$ associated with bradycardia].	has_symptom
+fe203966ded68d98754065f7127ec3fd039a15c4	[@PHENOTYPICFEATURE$ and @DISEASE$ in older patients].	has_symptom
+7d51f864ac5c923f95a287e10308ddb9680981d5	For syncope, ILRs documented @PHENOTYPICFEATURE$ or @DISEASE$ in 46%.	has_symptom
+eddb99a30074ce47772a2b6c171ec977adda61ae	Sleep apnea, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+e1ea482eb5202f800d36b971d1a89f27215024e3	[@DISEASE$ and @PHENOTYPICFEATURE$ in coronary disease].	has_symptom
+1276dd0c891e7fbe552ffa6c691bc68231cc26af	Zimmermann-Laband syndrome in a patient with @PHENOTYPICFEATURE$: The @DISEASE$ (ZLS) is a rare autosomal dominant disorder characterized by gingival hyperplasia or fibromatosis, various skeletal anomalies including dysplasia of the distal phalanges of thumbs and halluces, vertebral defects, and hepatosplenomegaly.	has_symptom
+40a9a57ef531108414b2832523fa75e4164c9344	@DISEASE$ in a patient with @PHENOTYPICFEATURE$: The Zimmermann-Laband syndrome (ZLS) is a rare autosomal dominant disorder characterized by gingival hyperplasia or fibromatosis, various skeletal anomalies including dysplasia of the distal phalanges of thumbs and halluces, vertebral defects, and hepatosplenomegaly.	has_symptom
+ededb85c8ef4aac9fecd04403397efacb85a70c6	@DISEASE$ in a patient with @PHENOTYPICFEATURE$.	has_symptom
+0eabbcb326f66525cb1f245e8e940fb1a219c0d7	Patients with @DISEASE$ may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, @PHENOTYPICFEATURE$ and dysplastic nails, which are caused by mutations in TSK gene.	has_symptom
+1d18fa24bc104700b71f16144454203f5e432462	Patients with @DISEASE$ may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, dental abnormalities and @PHENOTYPICFEATURE$, which are caused by mutations in TSK gene.	false
+fa889b0e83bfc74faa8d25228cba1d3fe04f2fd2	Patients with pycnodysostosis may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, @DISEASE$ and @PHENOTYPICFEATURE$, which are caused by mutations in TSK gene.	false
+9de7ce9aecb7c5f3546ad407e3ec0b6aabb27dc8	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and @PHENOTYPICFEATURE$.	has_symptom
+9414a13c99b9c8d1926c683bc6689194bccee2e0	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, @PHENOTYPICFEATURE$, glaucoma and @DISEASE$.	false
+434b03ee9bb8ce13081406b57c823c14c1bd07b4	We describe a 16-year-old female with persistent isolated @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, band keratopathy, cataracts, glaucoma and short stature.	false
+99d2e7d898364d32a36cca8123c03f7e3a31c989	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, @PHENOTYPICFEATURE$, mental retardation, band keratopathy, cataracts, glaucoma and @DISEASE$.	false
+409e2828dedc1212f7cc19ab51579855425b3953	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, mental retardation, band keratopathy, @PHENOTYPICFEATURE$, glaucoma and short stature.	false
+13fcc9dddc49976edff7ea4e09c2f681a1a7520f	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, @PHENOTYPICFEATURE$, band keratopathy, cataracts, glaucoma and @DISEASE$.	false
+e281d41c1d9a2c1f7eea6bc2cc74c3ed664f9673	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, @PHENOTYPICFEATURE$, band keratopathy, cataracts, glaucoma and short stature.	false
+808efb59a607bd9359a21653b3ead4da4a544b0d	Permanent isolated @DISEASE$ (pRTA) with ocular abnormalities is a systemic disease with isolated pRTA, @PHENOTYPICFEATURE$ and ocular abnormalities.	has_symptom
+f5be3820b8049dff4000ec7ab7468bfea5a2841f	This is a report of a 13-month-old girl with cleft palate, @PHENOTYPICFEATURE$, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	has_symptom
+6607c03d71f02d3019802d30a104dca1d9b1f751	This is a report of a 13-month-old girl with cleft palate, short stature, @PHENOTYPICFEATURE$, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	false
+6d1df8d58ac1c33c880a067136ec17b6c033cf30	This is a report of a 13-month-old girl with cleft palate, @DISEASE$, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, @PHENOTYPICFEATURE$, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay.	false
+8e2bbb9da796da9f5331f09b6bf0f2831d05e823	This is a report of a 13-month-old girl with cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay.	false
+549c26aa2c8c2f8c90a346e832a3eff290614528	This is a report of a 13-month-old girl with @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay.	false
+4762f455840e34fd83c3c0aebd62b6610b7e92b9	This is a report of a 13-month-old girl with @PHENOTYPICFEATURE$, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	false
+d8928ab612ae94cb759b971eae6a33578c3aec90	This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, @PHENOTYPICFEATURE$, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	false
+d658548dd7d04725833aa3c33f1e73b7bf96a155	However, this patient had a @PHENOTYPICFEATURE$ due to associated @DISEASE$.	has_symptom
+7f4a867abb927c0768999bab7ebcbaf8eaa6b882	Permanent isolated @DISEASE$ (pRTA) with ocular abnormalities is a systemic disease involving @PHENOTYPICFEATURE$, isolated pRTA, mental retardation, and ocular abnormalities.	has_symptom
+a58eda458d960d31872a67f3b90dd6a841cf048d	Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a @DISEASE$ involving short stature, isolated pRTA, @PHENOTYPICFEATURE$, and ocular abnormalities.	false
+f8d15b2b5d7ed81afd4b5782318c11eccdb8fc4d	Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving @DISEASE$, isolated pRTA, @PHENOTYPICFEATURE$, and ocular abnormalities.	false
+5db705c1078fe0432a54a5011b77e09d33afa687	Permanent isolated @DISEASE$ (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, @PHENOTYPICFEATURE$, and ocular abnormalities.	false
+5ddaf7a2a9ea0c8319b5d8498cd99a1a6a7c6e1b	A 12-year-old girl presented with permanent isolated @DISEASE$ (pRTA), glaucoma, band keratopathy, mild cataract and @PHENOTYPICFEATURE$.	has_symptom
+f0e46cc39bd3004afa1be4de79763e9edff205e2	A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild @PHENOTYPICFEATURE$ and @DISEASE$.	false
+10bc87808a062443dbaab69227397b9606a517dd	A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), @DISEASE$, band keratopathy, mild @PHENOTYPICFEATURE$ and short stature.	false
+47b3af5391e8d08041514e669096dee8356a1ce6	A 12-year-old girl presented with permanent isolated @DISEASE$ (pRTA), glaucoma, band keratopathy, mild @PHENOTYPICFEATURE$ and short stature.	false
+20d21c06cc465b2d9fa1e86d694c89f0005ad522	Though rare, recessive SLC4A4 mutations have been reported in patients with @DISEASE$, @PHENOTYPICFEATURE$, and ocular pathology.	has_symptom
+bb9c47a62b04115b9b4bcad00550e848064fe15c	Homozygous mutation in NBCe1 cause @DISEASE$ (pRTA) associated with extrarenal manifestations such as @PHENOTYPICFEATURE$, ocular abnormalities, enamel abnormalities, and migraine.	has_symptom
+bc37c6ed8a62d4f038aabc5522308c75c8b71ebd	Endocrine abnormalities (e.g., diabetes, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	has_symptom
+86fbe6ad2a5a9214a2c58ab5e74c18ecdf5d6585	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/@DISEASE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+5be720130ed7e0baf17804448a9626e7448c2954	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+99b05584c4c025a6f669de7f87eb69378f0e7a1e	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+58322dc05754d2eeacc6f3978c0cdb5c81a0f90d	Endocrine abnormalities (e.g., diabetes, growth retardation/@DISEASE$, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+504baf8d77d8489e46ddbad84c759eaa51817c6b	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+c8876c2148224d34eb9cebc3b7ac89d5cb751f60	Endocrine abnormalities (e.g., diabetes, growth retardation/@DISEASE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+68cddd1b515e390e3a895dc0079feb80114feabd	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+517e4061c463d29bff63ae932b4833e8486761d3	Endocrine abnormalities (e.g., @DISEASE$, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+4296377411bf3fd0101df9bd3842d2800c20ad0a	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+4516b0cced4262483ab1ad93d3da9701315aefef	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral @DISEASE$, dementia, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+d1b116bb6d45fd537d0f83f30c121d62d033cb9b	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+534c025f4ef76b6e7daf11b570fdaa6305688bdc	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+51fcd259cce207a62a0fdbf09b86af5543b9ea20	@DISEASE$ is an autosomal-recessive disease characterized by premature aging, shortness of stature, scleroderma-like skin changes, endocrine abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+d3b3119ce77c6d67df9874c8473db0124fc49ee1	Management of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+95c75352cb61c259077af5c9a10f9165e7b8b0af	In contrast to @PHENOTYPICFEATURE$ in normal elderly persons, cataract in patients with @DISEASE$ is known to be associated with degenerative corneal changes after cataract surgery.	has_symptom
+d5d5d0e5b392efa3b9c92df3baa6d9b838a36e31	In contrast to cataract in normal elderly persons, cataract in patients with @DISEASE$ is known to be associated with degenerative corneal changes after @PHENOTYPICFEATURE$ surgery.	has_symptom
+94f6ab8e126ad7817434520d4124908710330cb2	In contrast to cataract in normal elderly persons, @PHENOTYPICFEATURE$ in patients with @DISEASE$ is known to be associated with degenerative corneal changes after cataract surgery.	has_symptom
+4951d593559735df5c0384971829c9fff373ff8b	Clinical features of @DISEASE$ closely resemble accelerated aging, such as @PHENOTYPICFEATURE$, scleroderma skin, diabetes and tumorigenesis.	has_symptom
+5d1d9bc09c49d4d0627f4f1d671f56dfbdc76ac1	Clinical features of Werner's syndrome closely resemble accelerated aging, such as @DISEASE$, @PHENOTYPICFEATURE$ skin, diabetes and tumorigenesis.	false
+97220b8278559206a9a9793e77b62055fd56efbd	Clinical features of @DISEASE$ closely resemble accelerated aging, such as cataract, @PHENOTYPICFEATURE$ skin, diabetes and tumorigenesis.	false
+3b48120e71b38ecf4149d7d2c5659039897124ac	@DISEASE$: clinical features and @PHENOTYPICFEATURE$ surgery.	has_symptom
+e19a18ce15538a4874eeeee0f84388a6cc07d3c9	Also, in contrast to @DISEASE$, our patient did not have white or gray hair or @PHENOTYPICFEATURE$.	has_symptom
+321a55d00593e725a3d76472f5a6c891b9aa9b95	To date, there are few reports of wound dehiscence, bleb formation, and bullous keratopathy following surgical insult that have usually occurred after @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$.	has_symptom
+5b4df72126830eb252b45186a4a81664c403bd1d	We report two cases of @DISEASE$, a sister and a brother of 32 and 28 years, respectively, who were operated on for @PHENOTYPICFEATURE$ in both eyes.	has_symptom
+d669338dcc32ee772d246919ca828e7d13e40978	@DISEASE$: ulcerating atrophodermia, @PHENOTYPICFEATURE$ and premature senility; report of a case.	has_symptom
+bc764755e19ad8170da9a43a11c8ea21e36a6233	UBM study in spontaneous bleb formation and blebitis after @PHENOTYPICFEATURE$ surgery in @DISEASE$.	has_symptom
+c7c00aa4f66a3a6e46a452911626323484d709d9	@PHENOTYPICFEATURE$, iris coloboma, and megacolon in a Brazilian boy with @DISEASE$.	has_symptom
+0c2356e00285baf870bb6a031158cdf57d46499c	We report on a Brazilian boy with @DISEASE$ (RTS) with @PHENOTYPICFEATURE$, iris coloboma, and megacolon.	has_symptom
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+0edfbef4f0f4aafcd788330ff8e62fb0854c90c1	Here we uncover a new subtype of @DISEASE$ with severe @PHENOTYPICFEATURE$ and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene.	has_symptom
+eb90e3da205e4ec99a9c9374c39a8b97b4f80fe1	We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with @DISEASE$ phenotype associated with a broad neurological involvement characterized by @PHENOTYPICFEATURE$, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events.	has_symptom
+b7b017e1240fd3e3c7b02d18a4ad81073d9b7c6a	We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with @DISEASE$ phenotype associated with a broad neurological involvement characterized by microcephaly, @PHENOTYPICFEATURE$, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events.	false
+f8d52f03eef89c2201a753e4dc23991cc1f6dc3a	We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events.	false
+cd22e804c42e4478c1cbde9ad45903e93ef04599	Most of the @DISEASE$ disorder patients are also mentally retarded and many @PHENOTYPICFEATURE$ persons exhibit autistic symptoms.	has_symptom
+4803dcab52c0c3345647fc07361cc02b6998d07a	Most of the autistic disorder patients are also @PHENOTYPICFEATURE$ and many mentally retarded persons exhibit @DISEASE$ symptoms.	has_symptom
+7de0f96c9fc2af52b40da58effa7c6ee860c34c8	Most of the @DISEASE$ disorder patients are also @PHENOTYPICFEATURE$ and many mentally retarded persons exhibit autistic symptoms.	has_symptom
+65907428b0677b8de23aa1ccc9ae64345311d36d	Most of the autistic disorder patients are also mentally retarded and many @PHENOTYPICFEATURE$ persons exhibit @DISEASE$ symptoms.	has_symptom
+bd3979745fc33c608296b21b38a56c472e167eb8	Genomics, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+6118c825d21ddfc6a1c204d4744e8091f3ddef25	Programmed communication therapy for @DISEASE$ @PHENOTYPICFEATURE$ children.	has_symptom
+d1ba8973e96348bb1827e4f1192bf1d8ef5011a6	@DISEASE$: symptomatic and idiopathic--and @PHENOTYPICFEATURE$.	has_symptom
+d1cc3fa1f5bba7edf5b67c6f28d2dfdadc6d0cb0	Diagnoses included autism, mental retardation, combined @DISEASE$ and @PHENOTYPICFEATURE$, and developmental aphasia.	has_symptom
+e56f24154204371e6b3d992d2493fb664d9bca5b	Diagnoses included @DISEASE$, mental retardation, combined autism and @PHENOTYPICFEATURE$, and developmental aphasia.	has_symptom
+23dfe844f3584b8bcb6bba125a7f1891ceae27e5	Diagnoses included @DISEASE$, @PHENOTYPICFEATURE$, combined autism and mental retardation, and developmental aphasia.	has_symptom
+b15d4019fadf77d9183671fc0919557c067ad6ce	Diagnoses included autism, @PHENOTYPICFEATURE$, combined @DISEASE$ and mental retardation, and developmental aphasia.	has_symptom
+53e3b4bebc4e57d9b8e1289248b74d211f0ab640	[Fragile X and @DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+4593a452d7b657622eb4c7306045e5afd4ee0652	He is also @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+d11b05a7abd88da55d973b35edce5f9f4161618a	SPECT findings in @PHENOTYPICFEATURE$ @DISEASE$ individuals.	has_symptom
+43d107eac227694539ed30c6fda8cdddaa471a9e	[@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+bd3979745fc33c608296b21b38a56c472e167eb8	Genomics, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+fe916da1f58069fefc12941ac0c974fa2c0a7e3a	Afterwards, @PHENOTYPICFEATURE$ in the right, pharyngalgia, dysphagia, and ipsilateral @DISEASE$ weakness occurred, however, otological treatments did not completely improve these symptoms except facial weakness.	has_symptom
+7bbe443d7845d0f1ef4f06ae043d37dac3eb89ef	Afterwards, @PHENOTYPICFEATURE$ in the right, pharyngalgia, dysphagia, and ipsilateral facial weakness occurred, however, otological treatments did not completely improve these symptoms except @DISEASE$ weakness.	has_symptom
+9c4950b7720b25389bae31b566e91dc6ae9b9f8d	@PHENOTYPICFEATURE$ occurs in association with cranio-@DISEASE$ anomalies.	has_symptom
+c183c6df1dba77e17038770b80aa057f82bc3c0b	Congenital inherited @PHENOTYPICFEATURE$ associated with lack of @DISEASE$ pigmentation was suspected.	has_symptom
+7578425e515f6a8110e60cc2ed8dafbf2c36b6a7	Permanent @DISEASE$ weakness and @PHENOTYPICFEATURE$ were 1.4% and 2.3%, respectively.	has_symptom
+ea498174b4b6b26fa4edbc089b52a62fa3d23aa1	He developed @PHENOTYPICFEATURE$, @DISEASE$ weakness, and limb weakness and numbness.	has_symptom
+50fe56a5a9305c138e9e73c98fa2a11f7d2a86d3	22.5% of patients has @PHENOTYPICFEATURE$ and 32.5% has @DISEASE$ weakness.	has_symptom
+9cb26756d5d2e061503f370d814da0847a4a07da	On admission, a 44-year-old woman had @DISEASE$ dystonia, @PHENOTYPICFEATURE$, and primary amenorrhea.	has_symptom
+114e4be4af89bebca30fc48a627bf3444d7ff4c1	@DISEASE$ diplegia and @PHENOTYPICFEATURE$ following a fall.	has_symptom
+435edbd185e42fbe7c3d4700ba0036ae2ba76247	No @PHENOTYPICFEATURE$ ears, postoperative @DISEASE$ dysfunction or other lesions related to surgery were observed.	has_symptom
+3ff849e54acd0ad7fcfcff2f6587b0b4ccba85b1	Clinical changes include @DISEASE$ anomalies, cleft palate and @PHENOTYPICFEATURE$.	has_symptom
+74efd8ddacaacab40dd9acfeaede7a59efc634c1	Clinical changes include facial anomalies, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e72c317aa178ab30c2aceb270394a6367b59a46f	Clinical changes include @DISEASE$ anomalies, @PHENOTYPICFEATURE$ and hearing defects.	false
+d5a6830be6e61def47bc876a95e84e622151c789	Psychogenic purpura, also known as Gardner-Diamond syndrome or @DISEASE$, is a rare condition characterized by spontaneous development of painful @PHENOTYPICFEATURE$ skin lesions progressing to ecchymosis over the next 24 hours.	has_symptom
+9d3cbefddd314d7c96e5c7cd18c2859949f68daf	Psychogenic purpura, also known as @DISEASE$ or autoerythrocyte sensitization syndrome, is a rare condition characterized by spontaneous development of painful @PHENOTYPICFEATURE$ skin lesions progressing to ecchymosis over the next 24 hours.	has_symptom
+e731387012d9eac725f8765060906fa84c43b2c2	Mutations in HOXD13 underlie @PHENOTYPICFEATURE$ type V and a novel @DISEASE$.	has_symptom
+8aa4c5e3937efbedf3f8f497485c89a867b4b7f6	Biopsy specimens from the feet and proximal thigh musculature of two patients with @DISEASE$ with @PHENOTYPICFEATURE$ were compared.	has_symptom
+5b718400f6177fa9590f9369155d2e8e752ea22f	Contributory etiologic factor for @PHENOTYPICFEATURE$ in @DISEASE$: comparative biopsy study of intrinsic foot musculature and vastus lateralis in two cases.	has_symptom
+55f4ed4a8e332bd61fca204639a16298b3852c37	@DISEASE$ (HH), @PHENOTYPICFEATURE$, tumors, infections, congenital defects, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP.	has_symptom
+d25d3e1b6ac6d4ce98c92c2c140b635e53f4f18d	Hypothalamic hamartoma (HH), hydrocephalus, @PHENOTYPICFEATURE$, infections, @DISEASE$, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP.	false
+60ff75344eb3f07a0e34545b0320fe1b9a7ec129	@DISEASE$ (HH), hydrocephalus, @PHENOTYPICFEATURE$, infections, congenital defects, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP.	false
+d6414fce6e1a3fe72b29b5f50ad382c683108007	Hypothalamic hamartoma (HH), @DISEASE$, @PHENOTYPICFEATURE$, infections, congenital defects, ischemia, radiation, or injury of the brain are the most common causes of secondary CPP.	false
+d3b562d5772bc12e059f07c75d83573fafde1bc4	Two of the children with precocious puberty had @DISEASE$, one had an optic glioma, and one had a history of @PHENOTYPICFEATURE$.	has_symptom
+22310c62e00d243d0bf7d4184e015d35d598c084	Neoplastic (hypothalamic-chiasmatic astrocytoma, suprasellar germinoma) and nonneoplastic (@DISEASE$, @PHENOTYPICFEATURE$, trauma, empty sella, infection, congenital midline anomalies) conditions may affect the function of the hypothalamic-pituitary axis.	has_symptom
+ebb8c3f0df4f67800a3aee0c012dc4da3d0cab56	Asymptomatic @PHENOTYPICFEATURE$ and subdural hygroma after successful resection of @DISEASE$ with central precocious puberty.	has_symptom
+ad6ec6156cf3703185f75c7f3a088da06955dcbb	These were optic glioma or astrocytoma (n = 45), @PHENOTYPICFEATURE$ (n = 22), @DISEASE$ (n = 15), suprasellar arachnoid cyst (n = 10) and others (n = 8).	has_symptom
+0dd6be7f7c373a54a33d36617f96733cfcc4acc2	The common lesions are @DISEASE$, optic nerve gliomas, suprasellar arachnoid cysts, @PHENOTYPICFEATURE$, germinomas, and other sellar/suprasellar lesions.	has_symptom
+6732716e6882274f08e9ff1bfaae2d0818eb9dee	Multiple central nervous system abnormalities have been reported in @DISEASE$, including @PHENOTYPICFEATURE$, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs.	has_symptom
+06fa400f309b445e325df7b26e5b2eacf295d056	Multiple central nervous system abnormalities have been reported in Fryns syndrome, including @DISEASE$, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, @PHENOTYPICFEATURE$, and hypoplasia of the olfactory bulbs.	false
+a5e6340e63b010ca9dd17406d6ca2e6a80252676	Multiple central nervous system abnormalities have been reported in @DISEASE$, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, @PHENOTYPICFEATURE$, enlarged ventricles, and hypoplasia of the olfactory bulbs.	false
+d8f9750b2a4f752aecbae188f41dc8e39cdbeba9	Multiple central nervous system abnormalities have been reported in Fryns syndrome, including @DISEASE$, Dandy-Walker abnormality, cerebellar heterotopias, @PHENOTYPICFEATURE$, enlarged ventricles, and hypoplasia of the olfactory bulbs.	false
+3f84a66cf6477060525bb9896856b52ef9b9a988	Multiple central nervous system abnormalities have been reported in @DISEASE$, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, @PHENOTYPICFEATURE$, and hypoplasia of the olfactory bulbs.	false
+fdaa1450f0ab39188914f4d934cfa0316f4ebd29	Clinical features of @DISEASE$ included a prominent forehead, a flat midface, @PHENOTYPICFEATURE$, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and deafness were variable features.	has_symptom
+0193d93188baa2402c959595c320dd10ecf30a56	Clinical features of @DISEASE$ included a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and @PHENOTYPICFEATURE$ were variable features.	false
+c768a8792bd7b7c078546d6a42d5721f464f8f81	Clinical features of Keipert syndrome included a prominent forehead, a flat midface, @DISEASE$, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and @PHENOTYPICFEATURE$ were variable features.	false
+430a7a066de5fbdae53f3211c9fa72573ae6273e	Audiological and surgical evidence for the presence of a third window effect for the @PHENOTYPICFEATURE$ in @DISEASE$ deafness irrespective of types of mutations.	has_symptom
+07881bf98f23cb33dac64198f3993806116631f1	Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in @DISEASE$ @PHENOTYPICFEATURE$ irrespective of types of mutations.	false
+28454d8d1b7c0af0dd7c1cc56680a2545387c55c	Audiological and surgical evidence for the presence of a third window effect for the @DISEASE$ in DFNX2 @PHENOTYPICFEATURE$ irrespective of types of mutations.	false
+e2507d7409939e6e94ff6bf03c6849b1254d0d17	While nonreentrant arrhythmia has been traditionally associated with @DISEASE$, this work provides an expanded view of RASopathy @PHENOTYPICFEATURE$ phenotype as we demonstrate mutant proteins throughout this signaling pathway can also give rise to ectopic and/or MAT.	has_symptom
+5d18d6ff854cc612099b70f3d4958d02a76c90ac	We present the case of a newborn with @DISEASE$ who died due to heart @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0263e4daa84ab0df5f40f4c47ea5d12e8bf4656c	A fatal case of acute progression of generalized edema and simultaneous flash @PHENOTYPICFEATURE$ in a patient with idiopathic @DISEASE$: a case report.	has_symptom
+10b05682cf97d45d681a76df6aa01a00ce9555ca	The diagnosis of @DISEASE$ can be confirmed by the finding of a protein composition of the @PHENOTYPICFEATURE$ approximating that of plasma.	has_symptom
+b65e1e7751caa53cc18f5f7052dd59832ad8fb68	As soon as the diagnosis of @PHENOTYPICFEATURE$ due to '@DISEASE$' was suspected, the patient was treated with intravenous administration of diuretics, albumin and bolus methylprednisolone in combination of mechanical ventilation.	has_symptom
+d703efd08584a5d7e9e97da3b6ffc686933ac80b	Noncardiogenic @PHENOTYPICFEATURE$ (@DISEASE$) developed in a 61-year-old woman after methylmethacrylate was inserted for total hip replacement.	has_symptom
+0318b727b92b3592a9b0f711488e4bdd0f5f683c	Although she was considered to be in the peripheral leak phase of idiopathic @DISEASE$, which could not be diagnosed during the treatment, the generalized edema worsened further, severe flash @PHENOTYPICFEATURE$ progressed rapidly after fluid resuscitation and she died.	has_symptom
+9d4b2aeb3b6b0a25e5d13c3c36c00fd9e8738039	@DISEASE$ (CLS) is characterized by hypoproteinemia, diffused pitting edema, noncardiogenic @PHENOTYPICFEATURE$, and hypotension.	has_symptom
+23fb658a671f47f1d04880b101df899e2a7c0eed	Capillary leak syndrome (@DISEASE$) is characterized by hypoproteinemia, diffused pitting edema, noncardiogenic @PHENOTYPICFEATURE$, and hypotension.	has_symptom
+93c3e005c392ada884c5ff5235b30b8721181c28	Capillary leak syndrome (@DISEASE$) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic pulmonary edema, and hypotension.	false
+84e76981539245fe5d55f3faf7e2e95f3aff3819	Capillary leak syndrome (CLS) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic @DISEASE$, and hypotension.	false
+4045dc356ca0f444446c8c5271ff8959b44d4998	@DISEASE$ (CLS) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic pulmonary edema, and hypotension.	false
+917cdacac0b0b42a1acb6c711fa905af14bdcbb6	Capillary leak syndrome (CLS) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic pulmonary edema, and @DISEASE$.	false
+7e7afcf26d9ee6138340fa9bb5eda9e2b37f2789	Because hypovolemic shock and fatal @PHENOTYPICFEATURE$ may progress rapidly together even in the peripheral leak phase of idiopathic @DISEASE$, we should keep in mind this rare and fatal disease and recognize the pathophysiology to treat it effectively when the patient has hypovolemia with metabolic acidosis.	has_symptom
+6e0a0767a6be149b45549889a47c84c1e4e81f8f	We report here an unusual complication to HBO therapy in a FA patient consisting of generalized edema mimicking @DISEASE$ but with no @PHENOTYPICFEATURE$ or ascites.	has_symptom
+92999644e46fc4ca111f2bee5ab81ddb168f5d5a	@DISEASE$ (CMT4D) is an autosomal recessive demyelinating polyneuropathy, associated with @PHENOTYPICFEATURE$ exclusively found in Gypsies and resulting from a homozygous R148X mutation in the N-myc downstream-regulated gene 1 (NDRG1).	has_symptom
+755eabc281cdc38e18ca373c058f1220f17a9813	Individuals with this Marfanoid disorder lack the ocular findings of @DISEASE$ and often have dysmorphic features such as unusual facies, cleft palate, and @PHENOTYPICFEATURE$.	has_symptom
+1d621aba98bc7bf9e168a699e4b0903749115f6c	Individuals with this Marfanoid disorder lack the ocular findings of @DISEASE$ and often have dysmorphic features such as unusual facies, @PHENOTYPICFEATURE$, and contractures.	false
+27b4e5a578f2ad96e5d611e2ef9a11343cbc678d	Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$.	false
+3dfba85501450cab7fe2ce3599e24cc288e11b16	Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as unusual facies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e8f1951ad140d97cbd68fb8d984258adbfc3d4f0	Individuals with this Marfanoid disorder lack the ocular findings of @DISEASE$ and often have dysmorphic features such as @PHENOTYPICFEATURE$, cleft palate, and contractures.	false
+58773ad322b7699231aacecfe4016ce70a3dd7a2	Congenital @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+3575f7c70bdc70fa73ecd4de531b1d7863c0359f	@PHENOTYPICFEATURE$ arachnodactyly versus @DISEASE$.	has_symptom
+f5ca7f3c44fbfb84d3ee4f6c3ed5190b9d5e6371	@DISEASE$ with @PHENOTYPICFEATURE$ arachnodactyly and severe mitral regurgitation in a premature infant.	has_symptom
+7e3c66d0e11c71e438b17b0ddf8bf63430b4a428	Neonatal Marfan syndrome, the most severe presentation of @DISEASE$ phenotypes (MIM 154700), is characterised mainly by @PHENOTYPICFEATURE$, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema.	has_symptom
+73d74b5b1e81e2fe0abb4b20d60a210621b69631	Congenital contractural arachnodactyly (CCA, OMIM: 121050) is an autosomal dominant condition that shares skeletal features with @DISEASE$ (MFS, OMIM: 154700), including @PHENOTYPICFEATURE$, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and cardiovascular complications that characterize MFS.	has_symptom
+4a130fd712f27722c2464bde63052869fbcb51e9	Congenital contractural arachnodactyly (CCA, OMIM: 121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (@DISEASE$, OMIM: 154700), including @PHENOTYPICFEATURE$, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and cardiovascular complications that characterize MFS.	has_symptom
+a8dbad1dbe0d4a1eae6fd655bef6abb8da374bc7	[Surgical correction of @PHENOTYPICFEATURE$ arachnodactyly deformity of a child with @DISEASE$].	has_symptom
+8918295f33273bf56a806bf5a292fc1406a3e889	We present here a family with a clinical phenotype resembling Marfan syndrome (@DISEASE$), and displaying @PHENOTYPICFEATURE$ and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome.	has_symptom
+47e6c9948f2e41f8d76acad022755414b72912e5	We present here a family with a clinical phenotype resembling @DISEASE$ (MFS), and displaying @PHENOTYPICFEATURE$ and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome.	has_symptom
+5cead7d9ad49545a75bbdcb4c7372592f1ee5f6f	Like @DISEASE$, this condition is accompanied by skeletal abnormalities; however, flexion @PHENOTYPICFEATURE$ replace the loose-jointedness of Marfan syndrome and, more importantly, neither the eye nor the aorta are affected.	has_symptom
+ef8746262b6d23ddba2ec33026df862a3f530c39	Like Marfan syndrome, this condition is accompanied by skeletal abnormalities; however, flexion @PHENOTYPICFEATURE$ replace the loose-jointedness of @DISEASE$ and, more importantly, neither the eye nor the aorta are affected.	has_symptom
+e2fc3db01cc79b6c262e64b1f487cb318c2cdf05	Like @DISEASE$, this condition is accompanied by @PHENOTYPICFEATURE$; however, flexion joint contractures replace the loose-jointedness of Marfan syndrome and, more importantly, neither the eye nor the aorta are affected.	false
+2713cc5ecc1c92d4653310f44d4a48da82550c24	Like Marfan syndrome, this condition is accompanied by @PHENOTYPICFEATURE$; however, flexion joint contractures replace the loose-jointedness of @DISEASE$ and, more importantly, neither the eye nor the aorta are affected.	false
+defcdd11942e65d4982772717e921eabf2052b80	Like Marfan syndrome, this condition is accompanied by @PHENOTYPICFEATURE$; however, flexion @DISEASE$ replace the loose-jointedness of Marfan syndrome and, more importantly, neither the eye nor the aorta are affected.	false
+80fb4b1f7995f4d16099b7336e09126fcda46e51	A @DISEASE$ child with @PHENOTYPICFEATURE$ arachnodactyly deformity of both hands was admitted to our unit in June 2015.	has_symptom
+359607c47c4c0806629e7a042a0957c0a92a80c0	No particular epileptic syndrome was found to be more frequently correlated to autism, severity of @DISEASE$ was not correlated with a more pronounced tendency to develop @PHENOTYPICFEATURE$, and females with autism were more frequently affected by seizures than were males.	has_symptom
+fc57536f6644f7df6bf67cdac2dc51bdb444c873	No particular epileptic syndrome was found to be more frequently correlated to autism, severity of autism was not correlated with a more pronounced tendency to develop seizures, and females with @DISEASE$ were more frequently affected by @PHENOTYPICFEATURE$ than were males.	has_symptom
+ed17ba932a57e509a351cb22d22b6ab05d2cd0ce	No particular epileptic syndrome was found to be more frequently correlated to @DISEASE$, severity of autism was not correlated with a more pronounced tendency to develop @PHENOTYPICFEATURE$, and females with autism were more frequently affected by seizures than were males.	has_symptom
+8eba5b8e734019872510e3f220b472f72ff93c92	No particular epileptic syndrome was found to be more frequently correlated to autism, severity of autism was not correlated with a more pronounced tendency to develop @PHENOTYPICFEATURE$, and females with @DISEASE$ were more frequently affected by seizures than were males.	has_symptom
+c04e1244731aeea35d861538d97dc9e9a1ffe0c1	No particular epileptic syndrome was found to be more frequently correlated to autism, severity of @DISEASE$ was not correlated with a more pronounced tendency to develop seizures, and females with autism were more frequently affected by @PHENOTYPICFEATURE$ than were males.	has_symptom
+bf161d3f8fc4478690326ff97c1612ee02cd7613	No particular epileptic syndrome was found to be more frequently correlated to @DISEASE$, severity of autism was not correlated with a more pronounced tendency to develop seizures, and females with autism were more frequently affected by @PHENOTYPICFEATURE$ than were males.	has_symptom
+50e3fb5a02e58009e12ad8bed84f02b285fb53ec	@PHENOTYPICFEATURE$ are frequently reported (4-32%) in @DISEASE$.	has_symptom
+0813a3a8e8a60cf09fd209235e9f7d5d270a5258	[The @DISEASE$ syndrome and @PHENOTYPICFEATURE$; clinical and etiopathogenetic interference].	has_symptom
+9f6c7732cdfc47a79823a54bc6810079fc859889	@DISEASE$ is a neurodevelopmental disorder that is often comorbid with @PHENOTYPICFEATURE$.	has_symptom
+0e109ef55975a519aa7cd2deafd463554248576d	Soy infant formula and @PHENOTYPICFEATURE$ in children with @DISEASE$: a retrospective study.	has_symptom
+25d2740a9df4a311ba2feaf1b1ff2544c2e617b6	duplication in a boy with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+bca63e5dfc770bc4fae00c16b1c3ce21d004db0b	Frontal lobe @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+51daa136982c50740e85a047ec14015ec0f915c7	Overlap of @DISEASE$ and @PHENOTYPICFEATURE$: understanding cognitive comorbidity.	has_symptom
+999e5ea862eced7ceab13c64f158d6f9a61b6cd4	Early-onset @PHENOTYPICFEATURE$, particularly infantile spasms, are risk factors for @DISEASE$.	has_symptom
+3c6a632a7dd2b742d52a9740326287634cc033dd	The symptoms are variable and include psychomotor retardation, @DISEASE$ features, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+384fc1d2ac66ccaa116db07bca8c42213a1225f7	Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by @PHENOTYPICFEATURE$ and inflammation, but in @DISEASE$ arthritis and interstitial lung disease are more frequent and often inaugurate the disease.	has_symptom
+3cc56fa03862cf364a87ef3afd325108a19d2827	Of the three characteristic features of the @DISEASE$, our patient had only @PHENOTYPICFEATURE$.	has_symptom
+bb675f1a0e373b3942caa31b8b8c2346fd620601	Heterozygous GATA3 abnormalities are associated with hypoparathyroidism, @PHENOTYPICFEATURE$, and renal abnormality (@DISEASE$).	has_symptom
+4e649ecded2bc7fe18dbc2d5fa53f10d504e3304	Concomitant hypoparathyroidism, @PHENOTYPICFEATURE$, and renal agenesis: a case of @DISEASE$.	has_symptom
+e4c737e2daee25b9ff660527c11dd365569dae33	Concomitant @PHENOTYPICFEATURE$, @DISEASE$, and renal agenesis: a case of Barakat syndrome.	false
+d1150a02ba28becb9f4b2328ce0fe29b6e416673	Concomitant @PHENOTYPICFEATURE$, sensorineural deafness, and renal agenesis: a case of @DISEASE$.	false
+2e0d38cf78b445148051725009733fb98cdeb095	@DISEASE$, also known as hypoparathyroidism, @PHENOTYPICFEATURE$, and renal dysplasia syndrome is an extremely rare congenital disorder.	has_symptom
+2062fe186404d310c8732100ef306fb45f68fdc1	A novel mutation in the GATA3 gene in a family with @DISEASE$ (Hypoparathyroidism, @PHENOTYPICFEATURE$ and Renal anomaly syndrome).	has_symptom
+72aca04899c7cda03d7dd36b13f23925236097a4	A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and @PHENOTYPICFEATURE$ @DISEASE$).	false
+f40dcb2445ecc5e15e8faa3a2c12a0087419e101	A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, @DISEASE$ and @PHENOTYPICFEATURE$ syndrome).	false
+3b870f7575afabf1ca46eb7fe6020b43fdfa3c9d	A novel mutation in the GATA3 gene in a family with @DISEASE$ (Hypoparathyroidism, sensorineural Deafness and @PHENOTYPICFEATURE$ syndrome).	false
+f883512f96175b1208d26ddc2bf2d208824134fa	We report on a Japanese boy with @DISEASE$ (hypoparathyroidism, @PHENOTYPICFEATURE$, renal dysplasia) and recurrent cerebral infarctions in the basal ganglia.	has_symptom
+de3fcd8a7ba9d68a10f90c519ad27be2f0730669	Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, @PHENOTYPICFEATURE$, renal anomaly, that is the triad that features the @DISEASE$.	has_symptom
+04c818ab1ede528df96f8845d751f25b458fe6f2	Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, @PHENOTYPICFEATURE$, that is the triad that features the @DISEASE$.	false
+da8678a04f3e94ebdd41f880872c72f06fb13b44	Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, @DISEASE$, @PHENOTYPICFEATURE$, that is the triad that features the HDR syndrome.	false
+74cc95ee0c754cd6c0d911c4f2ed8d36bdfd06b1	Haploinsufficiency of the region 10p14-pter, results in @DISEASE$, sensorineural deafness, @PHENOTYPICFEATURE$, that is the triad that features the HDR syndrome.	false
+079db64da08b5ddc59c1217950cca45095b10cf3	@DISEASE$ (hypoparathyroidism, @PHENOTYPICFEATURE$, renal dysplasia) associated with del(10)(p13).	has_symptom
+dac9f52f2b495027bb7cee08458c48638eb06fda	@DISEASE$ is a newly recognized very rare syndrome defined by the combination of hypoparathyroidism, renal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+48c47e653e36901cb37f2edbb3669bcb55788064	We report here on a girl and her father with @DISEASE$ (Hypoparathyroidism, @PHENOTYPICFEATURE$ and Renal anomaly syndrome).	has_symptom
+43f825456b2b26c82a227bc5e7367a6b6fa92033	We report here on a girl and her father with HDR syndrome (Hypoparathyroidism, @DISEASE$ and @PHENOTYPICFEATURE$ syndrome).	false
+c10bd5270c05b2dcdc94e94c95a6a1807badca4d	We report here on a girl and her father with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and @PHENOTYPICFEATURE$ @DISEASE$).	false
+7b2f6074e74146270252bc6f0c25bd0b1ae597ae	We report here on a girl and her father with @DISEASE$ (Hypoparathyroidism, sensorineural Deafness and @PHENOTYPICFEATURE$ syndrome).	false
+e8e0e1a7956daae29ab6901edceaacf0857b5162	After discontinuation of immunosuppressive medication and cryotherapy for local control, @DISEASE$ @PHENOTYPICFEATURE$ healed with residual pigmented skin lesions.	has_symptom
+180d699674fc549852fc7f4afd342b6c8ea2a6b6	A patient with pemphigus foliaceus, derived from pemphigus erythematosus, developed @DISEASE$ characterized by wide-spread @PHENOTYPICFEATURE$ on the extremities after 5-month treatment with large doses of prednisone.	has_symptom
+eeeafe0c44c73b871015ced6db2a41ff16bb1e3b	Endobronchial @DISEASE$ was seen in 6 of 7 patients with @PHENOTYPICFEATURE$.	has_symptom
+84331c36f96805659e8dd5a921ccfbe566733b7d	CSD should be considered in the setting of HIV infection with @PHENOTYPICFEATURE$ even in the presence of biopsy-proven @DISEASE$.	has_symptom
+86ad58642d2443c5bf4aefe65f34f7dab661440b	We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, @PHENOTYPICFEATURE$, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and @DISEASE$.	has_symptom
+e4523f878333ad93792cb2d78d0ba0055d6e617f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	has_symptom
+ca229be0f374df433bcbe0cc77fc62767961f548	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+b75a828fa4286414fd109f613cf63fa3997bd4da	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4c361663ec5d21a98b78db7f6a73321958ce0ca2	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4d8936eb06a6feffbe0152b90e97928dfbbe9ab5	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @DISEASE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+58f25c37a4afb4cd4ae2b6e52e224e6880bf6486	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ee6d02c48284cc3e70a6915766b7626decb89aee	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+6f5cc0b67af10d87d754805862d38ee4c3a718a1	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+81bb3fd2e3e16191eb3ece6b663af23a23b29b7e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @DISEASE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+897ed40897895dfe56ed208fb6597cf3e018c2a9	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+92b71c588b573a6cc0a063a8c2e9840f68446acf	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f91759238f361faeb1c79a317ddbdd1a82e1efe4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+c921d06aeb303f66c4420ebfd50f0b83b2423e5e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+37803f3af53c17dec616595f9ac7e9370b18823d	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+d61e990bdfdb94c169eafa2b941b6c088d3f30ad	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4f2c8296910b8d63928fe76dcd2afcf44ef9fa10	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e5857778a2fe8765459af7e8a9b8c0b4aed3ba5b	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f9ea0cec088b5719cac1faf399fbc4839eebd73f	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f672d67f139b2a3e87d78ac7d5d0a0705cba6d8e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+060f9f84d9386895837b73102fc98e050e0fc2ba	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+573dabd2eea76d6d46c6a987da4d68bd88a24080	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+7b0a55ff33f7d219931ebbc80d9ad8a7caf264d3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a73d4fd3a39119b8ae41971ea2a12c4f4d6211c3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4fe799cee20db4998695ccf19c40b98bc319d43d	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+79d3dc1099c5083a2ee1cd7e1ed2076c49c73e35	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ee2865cc3615c11cb6566ba2a086eb7c553918eb	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+51a880921265bae40cc8041da47d801240d3e47d	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+2a21083ef66e165e63be353441c1eb1a8a41eaa8	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+418eba8b83b796b9aeed0f15e09beb2503fcb41d	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bc2768d7be27b6ecf8c1ea941a1f35ecee4bd914	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+370800b4f0a524bae8b90f65eda4f393a42d1c33	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+08588add3c43845df27a2a0a8c91b2007e213231	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+c162b757bbc313f22103e379ad0c7e5b271a926c	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+5c0587ae1051af5dfc3e1c206c489ab18f5452e6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a119539123bbe63e3abe6aee5c5e3cebfc3755cb	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bcdc1bf9400db013666c021848df66b6688460c6	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+0af6042a6348e7bfd332f8286c0c5dbdd0708bb4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+53db629bd58ea43243cb44ecd1651f380a78fa59	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+8f32f917e35efd1fcfcaaafe6ada2231aeeb62c2	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+3faec959fbc11bbcc35a932c814e7639d9dddf39	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @DISEASE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e141eb356e9bec026300fa5b28f94e74d6812335	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+3abaff852a8949c80cfda411d0458f829e14ec58	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+031ea78209e9a896aedc64548dfcd5306fd21c20	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @DISEASE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+2603287ba2a273dd149683cb041394fbb1d86fb6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4a06080bad4caf4924cf67845950f397a1025fd5	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ce506be2bf2f664338a5ddb06a923226c0840d3f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+da58a5a2b0bcc4b2c89490172827fa673305fbd6	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+494aeb2a19795c1d647127ec794058951a7629d3	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+d93973bfac91c1156d252cf65cae0aac91a7512f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @DISEASE$ @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a9405844814d71fc445bbd717147096ddc4778b5	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+40fc570404e6c6200df3b08d6c5b31bb7f7a5a6e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ed0eca25a57ba6d733d96e68f50ef63c3108c63f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+7809fd17f0cd7b276f8607ecef28ae35c7bc058b	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+17ee5a7ce91e8797d9aa1f462c5ed088639d7630	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+75b3bc8142420959ea92d8c94227ed69433958ec	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with @DISEASE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e009e0ef5ad0fa614ca32548a10cf10aac81cf83	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cf7e924f7f3d325f66d713dc6827c899378cb752	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+53fad350f4b4cd964cab5b39841cca73bf2ef7d3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+b18d049306694d00cbbc89ce4758eddcffc75918	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+5d0b014ce58fb48be3bc064f082904d994e83960	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+b455e00385af3f494c311d3bae88aba567d21422	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+962d09b3ce30a0c5d7a479590531a30aba744876	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cf052b4b396449f81b23dd11738fc32e3e28b967	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+3d07ffa8055eef631abc946b7fc0efe4158c3700	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+02b64e017a3a9719ee1369056d32c759f4eafa03	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f3946ee0ae16feb59943ed341bf3794919bf5f6c	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+8f766d70f8071751fadbf81ae3679136b5e4d89a	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+97048e4178cdad137b583f25faae927474916bb8	Mandibuloacral dysplasia (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ such as hypoplasia of the mandible and clavicles and acro-osteolysis.	has_symptom
+324214f47feee5b7878069d5440b2cfcea8f8ded	Mandibuloacral dysplasia (@DISEASE$; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.	has_symptom
+866dd83f68d0b48275635e17b1117edeec8932dc	Mandibuloacral dysplasia (@DISEASE$) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+2f71e5521244b1b97d78d2b14f3bd8aaf947a466	Cortical myoclonus with @PHENOTYPICFEATURE$ has only rarely been reported in association with @DISEASE$ (CD).	has_symptom
+84efd2df1f55b2c20833974758814ab52e09e534	@DISEASE$ and malabsorption: a case report of @PHENOTYPICFEATURE$ secondary to vitamin E deficiency.	has_symptom
+275eed6af786cc641eaf16ae585c0aba0907f7e9	@DISEASE$ presenting as gait disturbance and @PHENOTYPICFEATURE$ in infancy.	has_symptom
+d8c21f9e43c91148bbf9b9d7a01f50ee8e677478	Several neurological disorders have been associated with @DISEASE$, including epilepsy, @PHENOTYPICFEATURE$ and neuropathy.	has_symptom
+25886b7ee9f92ee5123331b45221877068f003ec	@DISEASE$ is associated with ataxic syndromes without definite diagnosis, suggesting that it plays a part in the pathogenesis of some @PHENOTYPICFEATURE$ syndromes.	has_symptom
+f456ec0659eb5899d63ec3dc4d9d2f59812453d2	@DISEASE$ is associated with @PHENOTYPICFEATURE$ syndromes without definite diagnosis, suggesting that it plays a part in the pathogenesis of some ataxic syndromes.	has_symptom
+8ae660c8bcddddaa35d6402d6d8a0587350ad1c7	@DISEASE$ may be associated with various neurologic manifestations, most commonly @PHENOTYPICFEATURE$.	has_symptom
+b7423c0629ff12b92f0e309a72f423d7ce59b98d	Progressive myoclonic @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+fa654a82f7c5508e922a50519383052b008ed65e	Progressive @PHENOTYPICFEATURE$ ataxia associated with @DISEASE$.	false
+9ca599b81c97c20a18ae3923b6ec50859efdde98	Progressive @PHENOTYPICFEATURE$ @DISEASE$ associated with coeliac disease.	false
+663e10f669e5ef3c09b6ba10491dc8d43e74fc7c	@DISEASE$ in patients with @PHENOTYPICFEATURE$ of unknown origin.	has_symptom
+c1b34e91a6996d77eb57547a0b299657b39f6059	Gluten @PHENOTYPICFEATURE$ (GA) has customarily been considered to be the main neurological manifestation of @DISEASE$ (CD).	has_symptom
+c7eaa2203b4f4eb94725913331a92bc8f80788c1	@DISEASE$ and idiopathic @PHENOTYPICFEATURE$.	has_symptom
+fbc334f49735adc50adb79d3ab6fc5d21245962f	Glioblastoma Multiforme in a Patient with @DISEASE$: Management of @PHENOTYPICFEATURE$ After Gross Total Tumor Resection.	has_symptom
+82843a3efd423d97cd1750f1ae9a83fc7afad0b1	Among 783 patients referred to our institute with different types of @PHENOTYPICFEATURE$ as presenting symptom, systematic evaluation of antigliadin and antiendomysial antibodies in the serum has identified nine in whom jejunal biopsy has subsequently confirmed the diagnosis of @DISEASE$ (CD).	has_symptom
+f2ee0f85796ca3656629558d8e4c1e2794b54c8c	Previous authors have described a specific syndrome of @DISEASE$, bilateral cerebral calcifications and @PHENOTYPICFEATURE$.	has_symptom
+6698f0a0afce1bd668cb79ebbf0b5281170c2192	Previous authors have described a specific syndrome of @DISEASE$, bilateral @PHENOTYPICFEATURE$ and epileptic seizures.	false
+29043687649786ff22ee6bc9dc04584718601436	Previous authors have described a specific syndrome of coeliac disease, bilateral @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b2813423e32a64c3bb7f99d165a9ab61392ed869	He was diagnosed with @DISEASE$, epilepsy, and cerebral calcifications (CEC) and became @PHENOTYPICFEATURE$ free after starting the gluten-free diet.	has_symptom
+a0cc84b229032c6d07bc29433e2bc0ceebe7b511	He was diagnosed with @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$ (CEC) and became seizure free after starting the gluten-free diet.	false
+aed77ac46a917b274c2b8178f177615f672d523c	He was diagnosed with coeliac disease, epilepsy, and @PHENOTYPICFEATURE$ (CEC) and became @DISEASE$ free after starting the gluten-free diet.	false
+108c9252c210cb60e96f1bbe395224a8296b641c	@DISEASE$ and epilepsy: favorable outcome in a child with difficult to control @PHENOTYPICFEATURE$.	has_symptom
+d6f255687e5a2a5850e835b3e0dda9cec2da4beb	@DISEASE$, bilateral occipital calcifications and intractable epilepsy: mechanisms of @PHENOTYPICFEATURE$ origin.	has_symptom
+6e88d7a1774eb904c7192e18ed59fdb006d74b8f	We report the autopsy results of a patient with @DISEASE$, @PHENOTYPICFEATURE$, and cerebral calcifications who died following a cerebral hemorrhage caused by Fisher-Evans syndrome.	has_symptom
+fcac120e599aaf4509a139f3be0a78c5fe394744	We report the autopsy results of a patient with celiac disease, seizures, and @PHENOTYPICFEATURE$ who died following a cerebral hemorrhage caused by Fisher-@DISEASE$.	false
+aaa8e9396b93cd30075691fa23d0d7f3983418c4	We report the autopsy results of a patient with @DISEASE$, seizures, and @PHENOTYPICFEATURE$ who died following a cerebral hemorrhage caused by Fisher-Evans syndrome.	false
+9339c17aee3cc32666e0dd2914329911ae38b214	We report the autopsy results of a patient with celiac disease, @DISEASE$, and @PHENOTYPICFEATURE$ who died following a cerebral hemorrhage caused by Fisher-Evans syndrome.	false
+ee36b388fbd36d98be3a8bbf9d52486538f87588	@DISEASE$ (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, @PHENOTYPICFEATURE$, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and vertebral anomalies.	has_symptom
+d9f096bc7c8ae9447b99a743155f272121640461	Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, @DISEASE$, mesomelic limb shortening, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and @PHENOTYPICFEATURE$.	false
+2b5f591a6fa10c3a146f3bb4a7fa70da54ed2ae2	Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in males, hydronephrosis or @DISEASE$, and skeletal and @PHENOTYPICFEATURE$.	false
+7beea56b14a3a75f75ed3ced44e111f3b542d2d6	@DISEASE$ (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and @PHENOTYPICFEATURE$.	false
+02993ec29cbc8ab04aa9cf6aa731eef97f053d6e	Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, @DISEASE$, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and @PHENOTYPICFEATURE$.	false
+f28c220a68607e30165b8c492df8c2eeacdfb75e	@DISEASE$ is caused by mutations in ROR2 and is characterized by short stature, @PHENOTYPICFEATURE$, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.	has_symptom
+e75968b48c0e5d265a206be321ccdc17921c37dc	@DISEASE$ is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, @PHENOTYPICFEATURE$, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.	false
+a4355c1a8741cf83b6c254f5519f325f0f33401c	Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, @DISEASE$, @PHENOTYPICFEATURE$, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.	false
+95a89bc6d4dae9e46c8c4d0c2b1a9417e922277d	@DISEASE$ is a rare @PHENOTYPICFEATURE$ associated with low-bone mass or an osteogenesis imperfecta (OI)-like syndrome.	has_symptom
+43b96d175f0eb8c747b9acd608c81df39f96c726	Two peculiar ataxic syndromes have been identified in genetically isolated populations: autosomal recessive @PHENOTYPICFEATURE$ of Charlevoix-Saguenay (ARSACS) in Quebec and @DISEASE$ (IOSCA) in Finland.	has_symptom
+3cca07839071c9bf543ca11d4c62a7831f43e0a8	Two peculiar @PHENOTYPICFEATURE$ syndromes have been identified in genetically isolated populations: autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS) in Quebec and @DISEASE$ (IOSCA) in Finland.	has_symptom
+962d09b3ce30a0c5d7a479590531a30aba744876	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	has_symptom
+e141eb356e9bec026300fa5b28f94e74d6812335	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	has_symptom
+4c361663ec5d21a98b78db7f6a73321958ce0ca2	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	has_symptom
+4a06080bad4caf4924cf67845950f397a1025fd5	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	has_symptom
+ca229be0f374df433bcbe0cc77fc62767961f548	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+c162b757bbc313f22103e379ad0c7e5b271a926c	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+b75a828fa4286414fd109f613cf63fa3997bd4da	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+432bc2a1cced9afc9cc97511e0a3063b78add772	A genetic linkage study was performed with markers spanning the Friedreich @DISEASE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a119539123bbe63e3abe6aee5c5e3cebfc3755cb	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f15d1f7be04a5be2e4e83866728a9ff56759b273	A genetic linkage study was performed with markers spanning the Friedreich @DISEASE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+58f25c37a4afb4cd4ae2b6e52e224e6880bf6486	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+53db629bd58ea43243cb44ecd1651f380a78fa59	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+6f5cc0b67af10d87d754805862d38ee4c3a718a1	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+debebbbebc252d41483058bdbfa5bbb488892367	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @DISEASE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cb171f333ce544277e40135c59cbe9cff7a2cfe6	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+8f32f917e35efd1fcfcaaafe6ada2231aeeb62c2	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+8252165df440315af130c879198860e65981e767	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @DISEASE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+897ed40897895dfe56ed208fb6597cf3e018c2a9	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+cb7f9395702333239908ca80654894befc9dad4b	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4124f464f1df4ec000d488852037c31ba32bd8c4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @DISEASE$ with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+3abaff852a8949c80cfda411d0458f829e14ec58	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+77eb3d18c6e350e72db23001480162ce33fbdd89	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, @DISEASE$ with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f0106ed4c1277bf007b63c81a86cdf39653bc964	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @DISEASE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+f91759238f361faeb1c79a317ddbdd1a82e1efe4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ce506be2bf2f664338a5ddb06a923226c0840d3f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, @DISEASE$ with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+1beef7bde06605f19264485f4f0dc2ad258cd18c	A genetic linkage study was performed with markers spanning the Friedreich @DISEASE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+37803f3af53c17dec616595f9ac7e9370b18823d	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+d61e990bdfdb94c169eafa2b941b6c088d3f30ad	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+948aebae89615821e2f8ca1cc55354fc48e8a78e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ce75f2d70139827144aca1ec753d711df9ef45e9	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @DISEASE$ with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+7809fd17f0cd7b276f8607ecef28ae35c7bc058b	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+f672d67f139b2a3e87d78ac7d5d0a0705cba6d8e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with @DISEASE$, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e4523f878333ad93792cb2d78d0ba0055d6e617f	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+17ee5a7ce91e8797d9aa1f462c5ed088639d7630	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+e009e0ef5ad0fa614ca32548a10cf10aac81cf83	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+d840518f98eabcee0e678be56209442253b14636	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ccea7b2b64e5f70490f6f01fe1d9dc58b3a1cea0	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @DISEASE$ with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+88d979c12a1fb66cc95d86e81ca8e0f51b9cb39a	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and @DISEASE$, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+001ba38c52ba70d63beb009a35d6f984fa66d4d8	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar @DISEASE$ loci.	false
+1f57d06dcc6eb19a5d894cce84bb10aa192e3d68	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, @DISEASE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+b18d049306694d00cbbc89ce4758eddcffc75918	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+15b865662fb6052d5393ef5448b075a4b90b6f66	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @DISEASE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+41baed16cbd543b7e87f4d96b2e5d960a232b1a4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @DISEASE$ associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+a9882289b60642f742acff33a3084ced36aaf160	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla @DISEASE$, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bc2768d7be27b6ecf8c1ea941a1f35ecee4bd914	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+840b80bbeb401a66fda4aa55e5a47fa1325147e4	A genetic linkage study was performed with markers spanning the Friedreich ataxia, @DISEASE$ of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+d60efaa695e90887639337c4ed6227cf91f685a9	Two rare forms of @PHENOTYPICFEATURE$ plus epilepsy, sensory ataxic neuropathy, dysarthria and ophthalmoparesis, and @DISEASE$ were described recently and found to be caused by defective mitochondrial proteins.	has_symptom
+0ec7515d1df5894b97f1da8feb3ee12f0abee4ee	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and @PHENOTYPICFEATURE$ with blindness and deafness.	has_symptom
+da30da1a3c74340e0a377f3ca62e4eb22b39e6ec	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+e708d1150963a86639d1b7ca7e49e72f16ba28c7	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+1f6bf145666269a5cb6205d6f502e94bace16b0c	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @DISEASE$ with @PHENOTYPICFEATURE$ and deafness.	false
+2a0f7e3ae1115fbb7fc611a2e8da44207ccc46f1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+508fe73b61d4f603b7071024d574c190db516a9e	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+58d0e2da62232cf43f44258386198e69c3924475	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+76942d47c3252314277ec1ac49de744d76e514a1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @DISEASE$ with blindness and @PHENOTYPICFEATURE$.	false
+a3c19dc172e775030057384010cf76ca68c37e78	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+dfc3bd354d922d7e88791299fd728d0e3d1bd3d3	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+e9c7c1dfc3681862abb5cc0c51af2026fae2ec23	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+c089d2e8a5806a51674aaa98294f5c6e2e0f81ba	Other forms are much less frequent, and include @PHENOTYPICFEATURE$ with vitamin E deficiency, abetalipoproteinemia. Refsum's disease, spastic ataxia, @DISEASE$, and ataxia with oculomotor apraxia.	has_symptom
+549de13049787cf87d009229ebbc4825c4aa75af	Other forms are much less frequent, and include ataxia with vitamin E deficiency, abetalipoproteinemia. Refsum's disease, spastic ataxia, @DISEASE$, and @PHENOTYPICFEATURE$ with oculomotor apraxia.	has_symptom
+852ce562c68ca0daa39b74a70556f766cb8868d7	We have carried out linkage analyses with markers on the regions of the previously identified @PHENOTYPICFEATURE$ loci to determine whether the @DISEASE$ syndrome represents the same allelic disease as any of the previously identified hereditary ataxias.	has_symptom
+6001d92f2e6d7c07deabd9c1da650467c4a6147c	Signs in @DISEASE$ follow a fairly distinct pattern, affecting early development, followed by @PHENOTYPICFEATURE$ and loss of skills.	has_symptom
+f502d29a08ba3bc46e034e942fc3e23eee0df416	The majority of the hearing loss is a @PHENOTYPICFEATURE$, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and @DISEASE$ where almost half of patients have a pure or component of sensorineural hearing loss.	has_symptom
+d81f1533b7d5d22db233e791c96e634226781d65	The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and @DISEASE$ where almost half of patients have a pure or component of @PHENOTYPICFEATURE$.	false
+4289e061249855aa7e52dfab07428835549def56	The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a @PHENOTYPICFEATURE$ and @DISEASE$ where almost half of patients have a pure or component of sensorineural hearing loss.	false
+a12f5e12ec3ffe97d6c81660574b6ac5c7d883ed	The majority of the hearing loss is a @DISEASE$, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of @PHENOTYPICFEATURE$.	false
+a466594650593c80fe87a5187f620588d9997f22	The majority of the hearing loss is a conductive hearing loss, with the exception of @DISEASE$ where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of @PHENOTYPICFEATURE$.	false
+49b69d172cfa5208d1809e1ec746a199c27eae75	The majority of the hearing loss is a conductive hearing loss, with the exception of @DISEASE$ where the majority of patients have a @PHENOTYPICFEATURE$ and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.	false
+c443c27cf5cca2063ae65c0bd4eba6968ba0dc6f	The majority of the hearing loss is a @DISEASE$, with the exception of Muenke syndrome where the majority of patients have a @PHENOTYPICFEATURE$ and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.	false
+1c260ee21aa4c310fe574a93b251af3054ab7fe9	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	has_symptom
+a90f92eba4f8ff4b40dc84ceb1165cf313ed9670	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+668d84df3ce2ee5fcfbef516928be2b55ef5b981	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+47764f594b6280e03e8a63d550baa9494cd14583	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, @DISEASE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+fa0ac71c077146f2e336b51f40cd6eec8d5dc716	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @DISEASE$, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+3783ba4fad68614d0ce6ad0a360fc7faa4fac7b2	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	false
+fb291c2414c0f5365c87d5a08bcb72bbd96ecc64	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+7a01a0402ca052aa65f339d73435da7e65d33899	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and @DISEASE$ dysostosis.	false
+e81e2ad0d403c2645ecdff900352507e70c145be	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+752432bcdc2ee10cf7be31c7e677037709df1926	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	false
+002950254c4cbb00090da1958010016575c6b642	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, @DISEASE$, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+1a13385575ccd63a8661af5209d1723743d54bf6	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial @DISEASE$.	false
+6184f5e2ed01e5ed933fed21ad79738ce1945270	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+4e9473c08bfab69d2a3247050d1f98f06659641f	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @DISEASE$, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	false
+235ecf943538d1ae4efc325fd67056f312ba2437	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+231597e6fd843dda02e23fe309c532e48556e59d	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+d23fd3271b29e983bb43089f181048c1403fe415	@DISEASE$ (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to @PHENOTYPICFEATURE$ and the Potter sequence) and ossification defects of the skull.	has_symptom
+8a86b256be6af65d820eb3e071852b63da49ae5c	@DISEASE$ (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early @PHENOTYPICFEATURE$ and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull.	false
+9895b241bd3b60a6972ce2978c2ee4b5e9cd6475	Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early @PHENOTYPICFEATURE$ and persistent anuria (leading to @DISEASE$ and the Potter sequence) and ossification defects of the skull.	false
+a9a01a3f6cdc0024f5d005b1e755cc3befd9aeb7	Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early @PHENOTYPICFEATURE$ and persistent @DISEASE$ (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull.	false
+7e6e79e70c3be40e8f2fd0bd635cee2e0a3e0c6e	@DISEASE$ (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, @PHENOTYPICFEATURE$, and typical facial anomalies.	has_symptom
+adbb06c168206d0dab8f0a90d85f4376a3418adf	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized @PHENOTYPICFEATURE$, mild mental retardation, @DISEASE$, cleft palate, and typical facial anomalies.	false
+feaaec2354bfca2a8cee0c2abbe8ede83c4fbc18	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized @PHENOTYPICFEATURE$, mild mental retardation, hearing loss, @DISEASE$, and typical facial anomalies.	false
+a8bb8f4ff0e04f722f7c1ec168efb8c88d582d5b	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized @PHENOTYPICFEATURE$, mild mental retardation, hearing loss, cleft palate, and typical @DISEASE$ anomalies.	false
+3334d538a6fa42683b1eba746b89cf71dbc3fede	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple @DISEASE$ disease mainly characterized by a generalized @PHENOTYPICFEATURE$, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies.	false
+276fcc62c6161fb13a47da2553b0758c026eee7f	@DISEASE$ (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized @PHENOTYPICFEATURE$, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies.	false
+3819dcd4b277fced83b8cbb8a05243c75c44e2a0	Reports on @PHENOTYPICFEATURE$ in connection with @DISEASE$ almost exclusively describe changes in primary teeth.	has_symptom
+11eaf92de97db29cef709ae7cf13360de6c35352	Absence of adult @PHENOTYPICFEATURE$ in familial @DISEASE$.	has_symptom
+78e13c735cce8e8717f229767175a9373fd516bf	@DISEASE$ is an inborn metabolic disorder in which abnormally low levels of the enzyme nonspecific alkaline phosphatase result in defective skeletal and dental mineralization (rickets, fractures, @PHENOTYPICFEATURE$) and in accumulation of the enzyme substrates (phosphoethanolamine, pyridoxal-5'phosphate and inorganic pyrophosphate).	has_symptom
+04a604d4ddaa690b6cd01173b875ba1a8e334938	As a result of these mutations (as many as 260 genetic mutations have been associated with @DISEASE$), patients have disordered bone mineralization leading to rickets, osteomalacia, fractures and other skeletal abnormalities as well as other systemic complications such as seizures, respiratory compromise, @PHENOTYPICFEATURE$, nephrocalcinosis and/or weakness and chronic pain.	has_symptom
+1e8af99c99aa4c1afd4084bf35933c66d5a83b4a	As a result of these mutations (as many as 260 genetic mutations have been associated with HPP), patients have disordered bone mineralization leading to rickets, osteomalacia, fractures and other @PHENOTYPICFEATURE$ as well as other systemic complications such as seizures, respiratory compromise, @DISEASE$, nephrocalcinosis and/or weakness and chronic pain.	false
+1dc02fa4cb461d6c63c5dc0081990ae9b40638ff	As a result of these mutations (as many as 260 genetic mutations have been associated with @DISEASE$), patients have disordered bone mineralization leading to rickets, osteomalacia, fractures and other skeletal abnormalities as well as other systemic complications such as @PHENOTYPICFEATURE$, respiratory compromise, dental anomalies, nephrocalcinosis and/or weakness and chronic pain.	false
+1f140ffc144ea6b2b95e8ef844ae78dacf5902af	As a result of these mutations (as many as 260 genetic mutations have been associated with @DISEASE$), patients have disordered bone mineralization leading to rickets, osteomalacia, fractures and other @PHENOTYPICFEATURE$ as well as other systemic complications such as seizures, respiratory compromise, dental anomalies, nephrocalcinosis and/or weakness and chronic pain.	false
+0dbf5811814bfdbea38ad22b1af21f63cf068c40	As a result of these mutations (as many as 260 genetic mutations have been associated with HPP), patients have disordered bone mineralization leading to rickets, osteomalacia, fractures and other skeletal abnormalities as well as other systemic complications such as @PHENOTYPICFEATURE$, respiratory compromise, @DISEASE$, nephrocalcinosis and/or weakness and chronic pain.	false
+edecb381145604a78c4b3fa6ed8a844c4d47b8a6	P. gingivalis was estimated to associate as an important pathogen in the etiology of periodontal destruction in this @DISEASE$ patient in addition to the @PHENOTYPICFEATURE$ such as abnormal enamel, dentin, or cementum formation.	has_symptom
+9d3170c0d6570184add2b49a08f9d19438735fae	Infection with P. gingivalis was suspected to be associated with the destruction of this patient's @DISEASE$, but other @PHENOTYPICFEATURE$ such as abnormal enamel, dentin, and cementum formation may also have contributed to the periodontal pathology.	has_symptom
+42c2f80f3b0296e87fee0871297d6a1d9484e3b4	@DISEASE$ is an autosomal recessive lysosomal storage disorder characterized by progressive neurological deterioration and @PHENOTYPICFEATURE$.	has_symptom
+7649435b9d7a9a589511b96d95f99f764a5ca1cd	@DISEASE$ is a rare lysosomal storage disorder with the clinical features of @PHENOTYPICFEATURE$, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death.	has_symptom
+6ce7fefbb3de75654776ed228be26a6c606c987d	Fluorescence in situ hybridization for X- and Y-chromosomes with concomitant immunohistochemistry was employed to study 28 female liver biopsies: 14 with the autoimmune disease @DISEASE$ (PBC), eight with @PHENOTYPICFEATURE$ C, and six with other diseases.	has_symptom
+3c902dfb759f25e03b5126325de668d2f34f5b52	The indications were primary sclerosing cholangitis (PSC, n?=?4), congenital hepatic fibrosis (CHF, n?=?2), alpha-1 antitrypsin deficiency (A-1 ATD, n?=?2), progressive familial intrahepatic cholestasis (PFIC, n?=?2), cystic fibrosis (n?=?1), @DISEASE$ (PBC, n?=?1), neonatal @PHENOTYPICFEATURE$ (n?=?1), embryonal sarcoma (n?=?1), Caroli disease (n?=?1), hepatocellular carcinoma (HCC, n?=?1), and chronic rejection after liver transplantations for PSC (n?=?1).	has_symptom
+3a74b58e193c4724a34345832cd52a3d913aefda	Associations have been made between OLP and chronic liver disease, namely @PHENOTYPICFEATURE$ C and @DISEASE$, but the aetiology and commonality between the diseases has yet to be confirmed.	has_symptom
+f4be493a280599e6dc68dbf6a4e3db783891df4e	However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, @PHENOTYPICFEATURE$, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with @DISEASE$.	has_symptom
+20c3ff7a662a22a9da2e01b7bf442f5692590e8b	@DISEASE$ with osteopenia and progressive @PHENOTYPICFEATURE$.	has_symptom
+1765f363a79040e74b043f5a477878810b7acba4	There is a reported case of @DISEASE$ with @PHENOTYPICFEATURE$ that developed Wilm's tumor.	has_symptom
+669338912a09edb2e5c3933480fb7f11bab60f79	Zinsser-Cole-Engman syndrome (@DISEASE$) with @PHENOTYPICFEATURE$--a rare association.	has_symptom
+6264943c5e5966ceed5ffbf5abcd3a4b256162dd	A 26-year-old male patient with dermatological and systemic features suggestive of @DISEASE$ is reported with an unusual associated ocular feature of bilateral @PHENOTYPICFEATURE$.	has_symptom
+057665065b34568ac3ef97b96981628e2d9aed6e	@DISEASE$ is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, @PHENOTYPICFEATURE$, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation.	has_symptom
+63a1b96e9e9065dbad2b2bd7942c6a885a5f4c6a	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, @DISEASE$, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+eefd2477f84a1fefb2c238ad3e2afaa955b83933	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, @DISEASE$, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+4c57f738a1d5a9c20c8256efe38c40fcfbf8df25	@DISEASE$ is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+e324c96dcd2401449a655e2c5a1f93ff8be5512e	Fucosidosis is a rare autosomal recessive @DISEASE$ with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+93e211fb269e358bdc5de582cef4f83302f4f4e6	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, @DISEASE$, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+c14805ac00617895a76321011f110acfa8a5c932	Patients either suffered from Alzheimer dementia (AD), mixed @PHENOTYPICFEATURE$ (MXD), frontotemporal dementia (FTD) or diffuse @DISEASE$ (DLB).	has_symptom
+0dc3d7776dea720823a122f7a7ec32dad6a39f57	Of the 16 patients diagnosed pathologically with @DISEASE$, documentation indicated that 8 had an early @PHENOTYPICFEATURE$, 3 had prominent dysautonomia, and 2 had prominent ataxia.	has_symptom
+00b92a7026ab1113542799d3dbe1c1a4182f4d4e	Of the 16 patients diagnosed pathologically with Lewy body disease, documentation indicated that 8 had an early dementia, 3 had prominent @DISEASE$, and 2 had prominent @PHENOTYPICFEATURE$.	false
+f6232438c11f500ba2457bd704b383a0c34f3424	Of the 16 patients diagnosed pathologically with Lewy body disease, documentation indicated that 8 had an early @DISEASE$, 3 had prominent dysautonomia, and 2 had prominent @PHENOTYPICFEATURE$.	false
+31bc060db8558d5e531803ba54ee80c6a04c79ef	Of the 16 patients diagnosed pathologically with @DISEASE$, documentation indicated that 8 had an early dementia, 3 had prominent dysautonomia, and 2 had prominent @PHENOTYPICFEATURE$.	false
+3419fb866e8af9d78e99dbd92f764b0fb848bf63	99mTc-HMPAO SPECT was found to be most useful in distinguishing Alzheimer's disease from vascular dementia and fronto temporal @PHENOTYPICFEATURE$, and least useful in differentiating between Alzheimer's disease and @DISEASE$, and between vascular dementia, frontotemporal dementia, and progressive aphasia.	has_symptom
+9d42b75d40ab9c4e2ff156fbb921799002bbf425	99mTc-HMPAO SPECT was found to be most useful in distinguishing Alzheimer's disease from vascular dementia and fronto temporal dementia, and least useful in differentiating between Alzheimer's disease and @DISEASE$, and between vascular @PHENOTYPICFEATURE$, frontotemporal dementia, and progressive aphasia.	has_symptom
+3cfa531ff331c5b1be6b2bb59602fef40d07a9bf	Till October 31st 2010, 1,353 patients with Alzheimer's dementia (33.1%), vascular @PHENOTYPICFEATURE$ (61.7%), @DISEASE$ disease (2.0%), Pick disease (0.6%) and others were followed-up for a median of 847 days (mean 805 ? 542 days).	has_symptom
+7517ba6b65ff44b4cea781967f9a4d2d6238c10b	Of the illnesses causing dementia, Alzheimer's disease was the most frequent (67.4%), followed by vascular dementia (18.9%), @DISEASE$ disease (4.6%), mixed @PHENOTYPICFEATURE$ (4.2%) and other illnesses.	has_symptom
+c9800bfd536faaec3c333a8169a26e2ed7709d5a	Parkinson-dementia/@DISEASE$, and 15.8% vascular/mixed @PHENOTYPICFEATURE$.	has_symptom
+a4d0eba07eda2e28d0e590f1d05e510c3af96d66	The common causes of dementia among the elderly are Alzheimer's disease, vascular dementia, mixed @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+28e20462730638b94be8ff100109bbb92198d913	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, @PHENOTYPICFEATURE$ and poor feeding.	has_symptom
+5da971f8f40d469d501397ed1f4d61a6cb4712dc	Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal @PHENOTYPICFEATURE$, characteristic facies, microcephaly, @DISEASE$ and poor feeding.	false
+9ba54619a7e3d080b75bad62c4575da3fea5e158	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal @PHENOTYPICFEATURE$, characteristic facies, microcephaly, mental retardation and poor feeding.	false
+ae0c236191869e2edc1ac164ed65b39be11f3972	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, @PHENOTYPICFEATURE$, mental retardation and poor feeding.	false
+d8e701b02ec09ee92975f3f7f69b30f6336db3b1	Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, @PHENOTYPICFEATURE$, @DISEASE$ and poor feeding.	false
+67131e6dd38c261fb675ac2f038a38157ba4f570	It is shown that in spite of marked microcephaly, severe @PHENOTYPICFEATURE$ is rare in @DISEASE$ and about half of the patients are mentally normal.	has_symptom
+d0604e536c8aec21f65b6b466f2365e2f9849cdd	It is shown that in spite of marked @PHENOTYPICFEATURE$, severe mental deficiency is rare in @DISEASE$ and about half of the patients are mentally normal.	false
+2556a6004dee193b07b3cde60ada4bb5aa55879b	It is shown that in spite of marked @PHENOTYPICFEATURE$, severe @DISEASE$ is rare in Dubowitz syndrome and about half of the patients are mentally normal.	false
+5725dc5717623f3c2fb46e5314c86eed8510d3da	@DISEASE$ is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and @PHENOTYPICFEATURE$.	has_symptom
+38befdc5d85384d2b1c792407312d85d32896977	Dubowitz syndrome is a very rare, @DISEASE$ characterized by @PHENOTYPICFEATURE$, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation.	false
+1da615c5618fbf10c7e628347a359d2e200d9856	@DISEASE$ is a very rare, autosomal recessive disease characterized by @PHENOTYPICFEATURE$, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation.	false
+cc2b2d4485a14bb2630bec6f49311c1ad3f1b9b5	Dubowitz syndrome is a very rare, autosomal recessive disease characterized by @PHENOTYPICFEATURE$, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and @DISEASE$.	false
+f90e61c19567c0166cdf10b2d0d318b115534c98	@DISEASE$ is a very rare, autosomal recessive disease characterized by microcephaly, @PHENOTYPICFEATURE$, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation.	false
+b856823c12880b7c21454595bc6eb2432648d9d0	Dubowitz syndrome is a very rare, @DISEASE$ characterized by microcephaly, @PHENOTYPICFEATURE$, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation.	false
+6346a8a4f7bbd56bde853431db472afb5dff252a	Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, @PHENOTYPICFEATURE$, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and @DISEASE$.	false
+4668a26d5ec99c170bcceb0ae5665a4a6d1dd71e	The diagnoses were cerebral palsy in 23 cases, @PHENOTYPICFEATURE$ in 4. West syndrome in 4, Fukuyama type congenital muscular dystrophy (FCMD) in 6. Walker-Warburg syndrome in 1 and @DISEASE$ in 1. Cortical dysplasias were classified into the following 7 groups, mainly based on the SAS findings: complete agyria (AG 1), mixture of agyria and pachygyria (AG 2), bilateral complete pachygyria (BP 1), diffuse pachygyria with marked widening of the bilateral superior frontal gyrus (BP 2), unilateral pachygyria with hemispheric atrophy or hemimegalencephaly UP), focal cortical dysplasia (FP) and other findings such as solitary schizencephaly (Others).	has_symptom
+d16f7d060d1f266233bf463a54cc80c800929b2d	@DISEASE$ is a disorder involving craniofacial abnormalities, growth retardation and @PHENOTYPICFEATURE$.	has_symptom
+03aaceced5ffdfe05f2d004b77860c8028c5510b	Dubowitz syndrome is a disorder involving craniofacial @PHENOTYPICFEATURE$ retardation and @DISEASE$.	false
+221a72c32064bbc766dc5cf69fa26434f33c2298	@DISEASE$ is a disorder involving craniofacial @PHENOTYPICFEATURE$ retardation and mental retardation.	false
+1db206cfdd420c7d1c9c07c300d6e597cf8d97b2	@DISEASE$ (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and @PHENOTYPICFEATURE$, eczema and peculiar facies.	has_symptom
+b7962ffb556d4d0f54ca8c4207268c2090de7eb4	@DISEASE$ is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), @PHENOTYPICFEATURE$, a peculiar face, microcephaly, behavioral problems and eczema.	has_symptom
+e0b9a0a382bcad150f5c6b83bf04c2ee063a2ba3	Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, @PHENOTYPICFEATURE$, behavioral problems and @DISEASE$.	false
+81d84fc0be756ffef5f785a35202092cbe656067	Dubowitz syndrome is a rare autosomal recessive disorder that leads to @PHENOTYPICFEATURE$ (intrauterine, postnatal), @DISEASE$, a peculiar face, microcephaly, behavioral problems and eczema.	false
+87e69d5b19af364ef13fc6f2f82559e34da02f07	Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), @DISEASE$, a peculiar face, @PHENOTYPICFEATURE$, behavioral problems and eczema.	false
+c9276d7366115d05b398410857d74029a9515eb1	@DISEASE$ is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, @PHENOTYPICFEATURE$, behavioral problems and eczema.	false
+cd96313bea6e1a942180a19034109babf3a88ed0	@DISEASE$ is a rare autosomal recessive disorder that leads to @PHENOTYPICFEATURE$ (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema.	false
+532a74df3c257cc1a15de5ec40774f6cc05979fe	Dubowitz syndrome is a rare autosomal recessive disorder that leads to @PHENOTYPICFEATURE$ (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and @DISEASE$.	false
+61e1cf4ed501592eac329d2e1dac70207f911e54	The @DISEASE$ is a rare, autosomal recessive disorder including intrauterine growth retardation, craniofacial abnormalities, @PHENOTYPICFEATURE$ and eczematous skin eruption.	has_symptom
+9d3bfe848b5ab2500dc8cbc19a54277d79feab5f	The @DISEASE$ is a rare autosomal recessive multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome.	has_symptom
+ea183912810cc4975db90d94ade80a8c728b38e8	Ocular manifestations reported have included congenital cataracts, unilateral @DISEASE$, optic nerve atrophy, and unilateral @PHENOTYPICFEATURE$ with bilateral Brushfield Spots.	has_symptom
+9963df19b7ffbfd808c88c6385d8899ca86d2226	Ocular manifestations reported have included congenital @DISEASE$, unilateral microphthalmia, @PHENOTYPICFEATURE$, and unilateral visual loss with bilateral Brushfield Spots.	false
+646e0aa30f8fa2d67afa7df22ac8efa85d518a4b	Ocular manifestations reported have included congenital cataracts, unilateral @DISEASE$, @PHENOTYPICFEATURE$, and unilateral visual loss with bilateral Brushfield Spots.	false
+74f89f9e84d69bafd80c67f14303eca61331d8ff	Ocular manifestations reported have included congenital cataracts, unilateral microphthalmia, @PHENOTYPICFEATURE$, and unilateral @DISEASE$ with bilateral Brushfield Spots.	false
+6917405d917be952e329f8c810f4a067a652257a	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	has_symptom
+8861e000d2ef8abf68f551b911b159be1d60830c	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and seizures.	false
+aa50c6bd7b7cd511e56f5bef93d2c4f5a3f3604b	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @DISEASE$, cleft lip or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+48bb2ed646552739736fff15373ecfb0171d6b2b	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+23be4606759f7f5961c64e159a3cec2c04636b12	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, @DISEASE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+ed7678d4bd8622e127c402d9a58e2f722c61a85a	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+a4773a4fe6ba7eeed163f76f83c417469c8a1871	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+ae96661ab27a9856bfb6b61707e14a7facccc25f	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+a7a26d77ee55f97a1e217df866c0efa1cd01c4be	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+0e7bceda4e751ba41dc73f6477647f7c5c540440	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and seizures.	false
+788226557cd3c5b20e176eb64677dab14058e504	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+8f24bc29844e72cee70135be02e4953e0701544b	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and seizures.	false
+de11235b42d92fb881bf0d830d177933021f9c9d	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and seizures.	false
+d9ff3c7cded4d517857803742fc04aa924a2c03e	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, @DISEASE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+6a73e433e35900a993cef07de930d196bf08866a	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+e236e782bda35868b831b92f752d8196e8bc48ed	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+0d929874ebd3d578e4b10522305d1df6e4870b91	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @DISEASE$, cleft lip or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+e333826f508cd4ad398f1e5ab60ff9a06c2ee882	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with @DISEASE$ renal crisis or anti-Ku and myositis, arthritis and @PHENOTYPICFEATURE$.	has_symptom
+01fd8f6854bb038e2d81c6a5d6fcd51924b1218a	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and @DISEASE$, @PHENOTYPICFEATURE$ and joint contractures.	false
+023de0675aa02382cad758c883e674fa570ec1dc	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with @DISEASE$ renal crisis or anti-Ku and myositis, @PHENOTYPICFEATURE$ and joint contractures.	false
+a114debe17d338596daed98727017e1e2eebd615	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and myositis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c905e9829c01c9c86d08fa930d9219926c8a8444	Scores were associated to the occurrence of peripheral neurological changes, @PHENOTYPICFEATURE$, and @DISEASE$-like conditions.	has_symptom
+49788d1fa98fb1769d6ff3626e829c2e00f7a540	Hutchinson-Gilford progeria syndrome (HGPS) is a rare, progressive segmental premature aging disease that includes @DISEASE$-like skin, progressive @PHENOTYPICFEATURE$, and atherosclerosis.	has_symptom
+101648ec4199a3d984a884bbd65688035a695745	Patients having ACA, CENP-A, and/or CENP-B resembled each other and differed from the remainder of the cohort in the following respects: older chronologically and at disease onset; more commonly women; more likely to have limited disease and lower skin scores; less likely to have finger ulcers, digital tuft resorption, or finger @PHENOTYPICFEATURE$; more likely to have pulmonary hypertension; less likely to have interstitial lung disease, @DISEASE$ renal crisis, inflammatory arthritis, and inflammatory myositis; and having lower overall disease severity.	has_symptom
+82735032f975c2bc16dc388a28090383c88723cd	In particular, anti-RNA polymerase III (anti-RNAP III) has been associated with diffuse cutaneous disease, @DISEASE$ renal crisis, a temporal relationship with malignancy, myositis, synovitis, @PHENOTYPICFEATURE$, and gastric antral vascular ectasia.	has_symptom
+65772f604db9aa61bdc4f8aa7d68f9a1dd7cb748	Mortality resulted from infections and morbidity from sica syndrome, pulmonary and hepatic insufficiency, @DISEASE$-like skin disease, and @PHENOTYPICFEATURE$.	has_symptom
+4ccec809199e190c3ffa5efc1627128f5d9fdc1f	The HAQ DI correlated directly with skin involvement, @DISEASE$ heart or kidney disease, tendon friction rubs, hand @PHENOTYPICFEATURE$, and proximal muscle strength.	has_symptom
+99d567d3c28086cc0e90ec7ebd11516f2815e444	Propose a new and alternative surgical procedure in order to aid on treatments of chronic ulcers with non-arterial etiology in the lower limbs, especially those that reoccurs and accomplish of @DISEASE$ and skin @PHENOTYPICFEATURE$ determining ankle and foot limits.	has_symptom
+5c467a4697d76e1282be51acee15ffb438ac5600	Univariate analysis showed that dcSSc, male gender, presence of small @PHENOTYPICFEATURE$, pulmonary interstitial, cardiac, oesophageal involvement, @DISEASE$ renal crisis, arterial hypertension, anti-topoisomerase antibody, anemia, hypalbuminemia, coexistent malignancies and elevated erythrocyte sedimentation were associated with poor survival.	has_symptom
+4acb338e539562437ec00d648c96d5f2d36b1467	Thrombopoietin-mediated tyrosine phosphorylation of proteins was impaired in platelets from 20 patients with polycythemia vera and 3 with @DISEASE$, but not in 4 patients with essential @PHENOTYPICFEATURE$, 3 with chronic myelogenous leukemia, 6 with secondary erythrocytosis, 2 with iron-deficiency anemia, 4 with hemochromatosis, or 5 normal subjects.	has_symptom
+1d2de3f483d477ee36eaa32024879414830ec66e	Skeletal dysplasia, intracerebral calcifications, optic atrophy, @PHENOTYPICFEATURE$, and mental retardation: nosology of @DISEASE$.	has_symptom
+12b610111b88229ba47a520c4d620f2a7c1560dd	Skeletal dysplasia, intracerebral calcifications, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation: nosology of dysosteosclerosis.	false
+19d4eb487d89eeff5a3dbd52b23ef37d0c00f599	Skeletal dysplasia, intracerebral calcifications, @PHENOTYPICFEATURE$, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+bbefa1e28bf28362253f87c2e55bf4704be31626	Skeletal dysplasia, intracerebral calcifications, optic atrophy, @DISEASE$, and @PHENOTYPICFEATURE$: nosology of dysosteosclerosis.	false
+53061192a6c64d6484388dff354095825b7dbf24	Skeletal dysplasia, @PHENOTYPICFEATURE$, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+955274a4d181f34bd82170b2b3e083f20a936202	Skeletal dysplasia, @PHENOTYPICFEATURE$, optic atrophy, @DISEASE$, and mental retardation: nosology of dysosteosclerosis.	false
+d2f91aeda4750e9cc161721c9173562b7ac227c4	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, @DISEASE$, and mental retardation: nosology of dysosteosclerosis.	false
+44c1d78ae0c8bea3cea2fadc3f8254ba9b506b3a	Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and @PHENOTYPICFEATURE$: nosology of @DISEASE$.	false
+7f78c2bf70083f74d7c368e16d5befec702d26b7	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+ce187f7297541f6811925dfd54322c1277d4d377	Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$ and minor @DISEASE$ malformations.	has_symptom
+47892b84ccaf11cb6b975d24f6bbb5e2cc92e005	Waardenburg syndrome is an inherited disease characterized by @PHENOTYPICFEATURE$, pigmentation changes and minor @DISEASE$ malformations.	false
+41018d15bc9db713b593a34854e462efbaabd0a6	Waardenburg syndrome is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, pigmentation changes and minor facial malformations.	false
+f084fb559e68ae1c77c99eafc62c28625aac512b	Waardenburg syndrome is an inherited disease characterized by @PHENOTYPICFEATURE$, @DISEASE$ and minor facial malformations.	false
+5738b658cee711d22297390df23c87b1295ce222	@DISEASE$ is an inherited disease characterized by @PHENOTYPICFEATURE$, pigmentation changes and minor facial malformations.	false
+8aa2ae37ec9c514d93a6637cec58267772cfab6f	The proposita was a 10-year-old girl with moderate to severe mental retardation, absent speech, hypotonia, minor @DISEASE$ anomalies, unusual digits, and @PHENOTYPICFEATURE$.	has_symptom
+f83cd9290e580242fccddd059452314e4fabb61b	The proposita was a 10-year-old girl with moderate to @PHENOTYPICFEATURE$, absent speech, hypotonia, minor @DISEASE$ anomalies, unusual digits, and pigmentation anomalies.	false
+69a88eed691daad3b0650baffcf64910e2c8f1bf	The proposita was a 10-year-old girl with moderate to @PHENOTYPICFEATURE$, absent speech, hypotonia, minor facial anomalies, unusual digits, and @DISEASE$.	false
+54ff074e9eff976b9a66bb605724b33063b29e73	Hispanics and African Americans in the prospective cohort were more likely to have diffuse skin involvement, skin @PHENOTYPICFEATURE$, digital ulcers, pulmonary hypertension (African Americans), and an overall lower sociodemographic status than whites, who had more @DISEASE$ telangiectasia and hypothyroidism.	has_symptom
+de9512eabfc652e2838955fa1df3c5ea980c1840	Recently, an association between Intrauterine growth restriction, @PHENOTYPICFEATURE$, Adrenal hypoplasia congenita, and Genital abnormalities (@DISEASE$; OMIM 300290) has been described.	has_symptom
+119005291bb54992adc97a0ab5336cad30ad1818	Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$ (IMAGe syndrome; OMIM 300290) has been described.	false
+0242588c8c16cb757c3de1d73cc701b9c37ea479	Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and @PHENOTYPICFEATURE$ (@DISEASE$; OMIM 300290) has been described.	false
+bd219f8c6c44081a507a9899952f90d94a4319a0	Recently, an association between Intrauterine growth restriction, @DISEASE$, Adrenal hypoplasia congenita, and @PHENOTYPICFEATURE$ (IMAGe syndrome; OMIM 300290) has been described.	false
+d606605474bf13044bab57f07066fb91bfb92773	We report a novel CDKN1C mutation associated with features of @DISEASE$, but without adrenal insufficiency or @PHENOTYPICFEATURE$, and characterized by early-adulthood-onset diabetes.	has_symptom
+b6d9ac32cbc958e2f73557753b901180e0d85ec0	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with @DISEASE$ (intrauterine growth restriction, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and genital anomalies).	has_symptom
+ee2f1e6078779a822f117966d0296f7c741b2bb6	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+478046b35269349fa3667419e7d0f90cc7ff5e76	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, @DISEASE$, congenital adrenal hypoplasia, and @PHENOTYPICFEATURE$).	false
+31d52ee0b13fbffb4a2a2b721e8f14c1b435f946	Intriguing is that CDKN1C gain-of-function variations were recently found in patients with @DISEASE$ (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and @PHENOTYPICFEATURE$).	false
+50d80c167ad7e69b942a0de8fc8a4ea146cc2d8a	A 53-year-old male was diagnosed with @DISEASE$ in March 2014, followed by @PHENOTYPICFEATURE$, splenomegaly and anemia in July 2014.	has_symptom
+90adbd6b73df658eceaf18b4ac2bb36b16433b72	We describe a female patient who presented with @PHENOTYPICFEATURE$ and polyuria and was shown to have idiopathic partial @DISEASE$.	has_symptom
+a2d4eb6627b19a2c4ecbb71d210100d440fa95fc	The first case is an 8.5-year-old girl with an inv (dup @DISEASE$ syndrome, @PHENOTYPICFEATURE$ and dysmorphic features.	has_symptom
+079149c06956d0efabf90e4d74112e0a966dceba	The inv (dup@DISEASE$ syndrome: a clinically recognizable syndrome with altered behavior, @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+6be50e891fc72f3964fe3bdc4324dc9dae755dd8	Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, @PHENOTYPICFEATURE$, and short stature in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	has_symptom
+1035ce95adbfdff951a3d7e4ae87d3aec92e0ed4	Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, seizures, and @PHENOTYPICFEATURE$ in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+5c2cc0385a959fdc1df8e5d501ac5ee6cd771fca	Features include significant developmental delay and characteristic dysmorphic features as well as @PHENOTYPICFEATURE$, clubfeet, @DISEASE$, and short stature in some individuals, with a clinical diagnosis of Fryns syndrome in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+e0c26f32fd162c86bf8f3f8fef8e73a29ff3fb7f	Features include significant developmental delay and characteristic dysmorphic features as well as @PHENOTYPICFEATURE$, clubfeet, seizures, and short stature in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+a1f2c4ad5bfbbcbed28a1ba24d3e63b9d6450f0d	Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, @DISEASE$, and @PHENOTYPICFEATURE$ in some individuals, with a clinical diagnosis of Fryns syndrome in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+fcb22004c153ab1f351159ec0018914f38f5cd3e	In addition to excessive daytime sleepiness, @DISEASE$ (PWS) patients may show narcolepsy-like symptoms, such as sleep-onset rapid eye movement sleep and cataplexy, independent of obesity-related @PHENOTYPICFEATURE$, which suggests a disorder of the hypocretin neurons.	has_symptom
+7476885919bb13f0137dc6483426963bbade25c5	In addition to excessive daytime sleepiness, Prader-Willi syndrome (PWS) patients may show narcolepsy-like symptoms, such as sleep-onset rapid eye movement sleep and cataplexy, independent of @PHENOTYPICFEATURE$-related @DISEASE$, which suggests a disorder of the hypocretin neurons.	false
+3c68b454f7e377da1c3deea42faf06128fb96e42	In addition to excessive daytime sleepiness, @DISEASE$ (PWS) patients may show narcolepsy-like symptoms, such as sleep-onset rapid eye movement sleep and cataplexy, independent of @PHENOTYPICFEATURE$-related sleep disturbances, which suggests a disorder of the hypocretin neurons.	false
+399c3a9e133c020cbf5b1a3ad82bf51fcff6fa82	@PHENOTYPICFEATURE$ and behavioural problems in adults with @DISEASE$.	has_symptom
+26b5296e825e8a6f572bc9ab18f099c5221efdab	Individuals with @DISEASE$ (PWS) are at risk of @PHENOTYPICFEATURE$, such as excessive daytime sleepiness (EDS) and sleep apnoea, and behavioural problems.	has_symptom
+8605786d33cdc662bf40d8b0994fa28ea0855547	Individuals with @DISEASE$ (PWS) are at risk of sleep disturbances, such as excessive daytime sleepiness (EDS) and @PHENOTYPICFEATURE$, and behavioural problems.	false
+a59448b5d4faaacc9e177fceadfce7bebddc7444	Individuals with Prader-Willi syndrome (PWS) are at risk of @DISEASE$, such as excessive daytime sleepiness (EDS) and @PHENOTYPICFEATURE$, and behavioural problems.	false
+9fe981d83f10c0838c37ba5c412a06feddb31085	Fukuyama-type congenital muscular dystrophy (@DISEASE$), the second most common childhood @PHENOTYPICFEATURE$ in Japan, is caused by alterations in the fukutin gene.	has_symptom
+ef2bbca72f6cfd16f33451594a790f0d98b9b1fb	@DISEASE$(FCMD) is a second common childhood @PHENOTYPICFEATURE$ in Japan.	has_symptom
+fe3c545d85d4f123a90cab674c00ba53568f4e4f	Fukuyama congenital muscular dystrophy(@DISEASE$) is a second common childhood @PHENOTYPICFEATURE$ in Japan.	has_symptom
+2afeb48217c95d36f2362fd0e9fe2dae1a56a95b	Fukuyama @PHENOTYPICFEATURE$ (@DISEASE$) is due to mutations in fukutin, a putative phospholigand transferase.	has_symptom
+16cb5bb5a82867d55c88df1f8eb3b796b45c4910	Fukuyama-type congenital muscular dystrophy (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ and cortical dysgenesis of the cerebrum and cerebellum.	has_symptom
+7856d43c6e1f794ce29db24dcc54d6a5bcafa351	This study investigated immunohistochemically the expression of alpha1-syntrophin in Duchenne and Fukuyama @PHENOTYPICFEATURE$ (DMD and @DISEASE$, respectively).	has_symptom
+0a9dfd9bde665cdeef46e93ad04c6c13e52244aa	Fukuyama-type congenital muscular dystrophy (@DISEASE$), the second most common childhood @PHENOTYPICFEATURE$ in Japan, is characterized by the association with severe brain anomalies such as pachygyria and focal interhemispheric fusion.	has_symptom
+b8d494d8ea4c17e59fce803cabfa3e15276a670b	He had shown severe psychomotor retardation and @PHENOTYPICFEATURE$ since early infancy, and was diagnosed as having @DISEASE$ at the age of 5 years.	has_symptom
+0ad0d3125127925b73a175cc79b6e259db8939ff	Fukuyama type congenital muscular dystrophy (@DISEASE$), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe @PHENOTYPICFEATURE$, associated with brain anomalies due to neuronal overmigration.	has_symptom
+90e416c864990e49978c7c5933fc68e1183a41b1	Fukuyama type congenital muscular dystrophy (@DISEASE$), the second most common form of childhood @PHENOTYPICFEATURE$ in Japan, is an autosomal recessive severe muscular dystrophy, associated with brain anomalies due to neuronal overmigration.	has_symptom
+0359d6b62f4948f991025d9240f6e0d4958c588a	Fukuyama type congenital muscular dystrophy (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ associated with an anomaly of the brain.	has_symptom
+0613236c84cd7e1405658111a8312d02e8ab79cb	@DISEASE$ (FCMD), which is caused by mutations in the fukutin gene, is the second most common form of childhood @PHENOTYPICFEATURE$ in Japan.	has_symptom
+d408c6438fc28010d211444a291033ac4ed782b0	Fukuyama congenital muscular dystrophy (@DISEASE$), which is caused by mutations in the fukutin gene, is the second most common form of childhood @PHENOTYPICFEATURE$ in Japan.	has_symptom
+745c854ef13ccf8f3a7b5b8b7ae5ecdba1ea58a9	@DISEASE$ (TN) is occasionally caused by cerebellopontine angle (CPA) @PHENOTYPICFEATURE$.	has_symptom
+ff74e35cf143f32bdfcd5b0a4c7c4ad29f32ac45	@DISEASE$ caused by contralateral posterior fossa @PHENOTYPICFEATURE$ are extremely rare.	has_symptom
+c93d98808f17bd25a626de5ba56773ad8e73ebb9	@DISEASE$ is a recognized complication in patients with intracranial @PHENOTYPICFEATURE$ affecting the trigeminal nerve.	has_symptom
+9b0eccce0dea0f92d017f2c2c8363286fb19a5af	@DISEASE$ secondary to @PHENOTYPICFEATURE$ with normal exam, responsive to carbamazepine.	has_symptom
+5929f2d8f27995b5cc18c71c3e44bf288034a983	However, @DISEASE$ occurred after @PHENOTYPICFEATURE$ shrinkage.	has_symptom
+ecf1e6aaa111c0467b79600cdc65bd301331c7d3	[@DISEASE$ secondary to an intraventricular @PHENOTYPICFEATURE$].	has_symptom
+683526ec0f5b58eb733f892c884466534edd5fa6	@DISEASE$ caused by intracranial epidermoid @PHENOTYPICFEATURE$: report of a case.	has_symptom
+6bf7ef63aa5190f56949e5e5e070723929b5478b	@DISEASE$ secondary to posterior fossa @PHENOTYPICFEATURE$.	has_symptom
+3706dd478fa14bbae69e17732187547e53ec6a82	Gamma Knife radiosurgery for treatment of @DISEASE$: idiopathic and @PHENOTYPICFEATURE$ related.	has_symptom
+a56ea04726ff17a0042568c618fa9070033079d9	[@DISEASE$ and @PHENOTYPICFEATURE$ of the cerebellopontile angle].	has_symptom
+1a52b4269b4b8d99e9be6380c51374fb195978fc	@DISEASE$ is a neurodegenerative lysosomal storage disorder characterized by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+2e788418ad05d1321e411eeb186617ada0a99dac	@DISEASE$ (MPS IIIA) is an inherited neurodegenerative lysosomal storage disorder characterised by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+e4120c0b821daad4ec9c5c5d83efd440bc7b6545	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+ae78f4fc1a809e9b63caad076cf58a1cff904189	@DISEASE$ (WHS) is caused by a variably-sized deletion of chromosome 4 involving band 4p16 whose typical craniofacial features are "Greek warrior helmet appearance" of the nose, @PHENOTYPICFEATURE$, and prominent glabella.	has_symptom
+dc51acbbc180cb1b2767adb5a0667ccb259e10d8	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, @PHENOTYPICFEATURE$, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias.	has_symptom
+5d7fbe0bb97d94794e4463428e84e66fd70f5581	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and hypospadias.	false
+d533cb9368ee6d5d737fd003ab8134e17e7701dd	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7bd3d4fc0c367e46e161b78f549c2f3674f9dfa6	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, microcephaly, prominent glabella, @PHENOTYPICFEATURE$, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias.	false
+b8c58103b5ac90077957edd727b949e9bd5d1b5e	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, @DISEASE$, prominent glabella, @PHENOTYPICFEATURE$, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias.	false
+54257a2865b1b384624395508a523d41a0d8864b	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, @DISEASE$, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and hypospadias.	false
+b9efa5b5495182ad1d7cd4b32e52278055d84e82	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, @PHENOTYPICFEATURE$, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and @DISEASE$.	false
+eba67c6d2f9fa08ffe291bf0e1676d13b31b9000	He had mild psychomotor retardation and multiple minor anomalies, without growth retardation or @PHENOTYPICFEATURE$, which differs from the classical 4p--syndrome (@DISEASE$).	has_symptom
+d52a126c542189b700febb8a9c6d2b230ec7895e	He had mild psychomotor retardation and multiple minor anomalies, without @PHENOTYPICFEATURE$ or microcephaly, which differs from the classical 4p--syndrome (@DISEASE$).	false
+2dd09bae710d09580759618aafc997d3d8c4356c	He had mild psychomotor retardation and multiple minor anomalies, without @PHENOTYPICFEATURE$ or @DISEASE$, which differs from the classical 4p--syndrome (Wolf-Hirschhorn syndrome).	false
+e593453efa9b7201cc5fe3e4ea3208e80e4463ff	Postnatal growth records of 13 patients with @DISEASE$ indicate that the syndrome is associated with continuing severe growth retardation and marked @PHENOTYPICFEATURE$.	has_symptom
+615a4d87a30c30286c7ba7568bebd8c8e6a78a45	Postnatal growth records of 13 patients with @DISEASE$ indicate that the syndrome is associated with continuing severe @PHENOTYPICFEATURE$ and marked microcephaly.	false
+547cb61e0af8192be56f0107c11d5ab4e4788c1f	Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe @PHENOTYPICFEATURE$ and marked @DISEASE$.	false
+c049301abbbc08ec0e3187d228af0d33f99833ed	The @DISEASE$ is characterized by prenatal and postnatal retardation of growth, mental retardation, @PHENOTYPICFEATURE$, convulsions and a peculiar facies.	has_symptom
+87ecc65fe5bc631ee2e145c75d657b494416e706	The Pitt Rogers Danks syndrome is characterized by prenatal and postnatal retardation of growth, @PHENOTYPICFEATURE$, @DISEASE$, convulsions and a peculiar facies.	false
+0871a3a0f2a3fb1dae9fef1f03fab62ccb9ac9a1	The @DISEASE$ is characterized by prenatal and postnatal retardation of growth, @PHENOTYPICFEATURE$, microcephaly, convulsions and a peculiar facies.	false
+dc55431939d1450e8fe78271a4c8a0fa2782629a	The @DISEASE$ (WHS) or 4p-deletion syndrome is characterized by mental retardation, growth retardation, @PHENOTYPICFEATURE$ and typical facial features.	has_symptom
+1fe2606a551afc8ec7cb542d4eab6223e0461957	The Wolf-Hirschhorn Syndrome (WHS) or @DISEASE$ is characterized by mental retardation, growth retardation, @PHENOTYPICFEATURE$ and typical facial features.	has_symptom
+3d4efebb5c963cb4dcede8dc11f3fae727821f59	The @DISEASE$ (WHS) or 4p-deletion syndrome is characterized by mental @PHENOTYPICFEATURE$ retardation, microcephaly and typical facial features.	false
+51b2d745182c3e63566033af0f50389a3ea1ed26	The Wolf-Hirschhorn Syndrome (WHS) or @DISEASE$ is characterized by mental @PHENOTYPICFEATURE$ retardation, microcephaly and typical facial features.	false
+f6f4d6472016326137d6c6e40fa2c118b53fc7e8	The Wolf-Hirschhorn Syndrome (WHS) or 4p-deletion syndrome is characterized by mental @PHENOTYPICFEATURE$ retardation, @DISEASE$ and typical facial features.	false
+84b57795d22c89421e871d083a358a5055cd3e06	@DISEASE$ (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, characteristic facial appearance, seizures, unusual palmar creases and developmental delay.	has_symptom
+d8820a0d00e035041732a58cc22097fca7af417a	@DISEASE$ (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, @PHENOTYPICFEATURE$, unusual palmar creases and developmental delay.	false
+a46ad8291a739f5b38a6dce7082766ae6df85fb4	Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, @DISEASE$ with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, @PHENOTYPICFEATURE$, unusual palmar creases and developmental delay.	false
+1181c6f0d1fc767c439005e4d227cf541179f859	Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, @DISEASE$, characteristic facial appearance, @PHENOTYPICFEATURE$, unusual palmar creases and developmental delay.	false
+efdfe21b8d4a1f24e8331b5df4c95df221069969	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of @DISEASE$: intrauterine growth retardation, @PHENOTYPICFEATURE$, facial dysmorphism, congenital hypotonia and seizures in neonatal period.	has_symptom
+d2caa3c60e235ede45c1eed9fa0f2a1eccf260dc	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of @DISEASE$: intrauterine growth retardation, microcephaly, facial dysmorphism, congenital hypotonia and @PHENOTYPICFEATURE$ in neonatal period.	false
+e79ec45ab9a7e94a5ebf8d4d7c564131a604b718	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, congenital hypotonia and seizures in neonatal period.	false
+0f44581e233a1c8bdb42b6774f2cd7d65c269c0b	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: @DISEASE$, microcephaly, facial dysmorphism, congenital hypotonia and @PHENOTYPICFEATURE$ in neonatal period.	false
+905eb0457fe88797034b2ff523a34a51a537ba9d	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: intrauterine growth retardation, @DISEASE$, facial dysmorphism, congenital hypotonia and @PHENOTYPICFEATURE$ in neonatal period.	false
+72aaeed24f5a8ad94cec74a5c190a4c00dbd440c	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of @DISEASE$: intrauterine growth retardation, microcephaly, @PHENOTYPICFEATURE$, congenital hypotonia and seizures in neonatal period.	false
+0df73b01de1748820520773a62478c84a016a7c8	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of Wolf-Hirschhorn syndrome: @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, congenital hypotonia and seizures in neonatal period.	false
+48bb2ed646552739736fff15373ecfb0171d6b2b	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	has_symptom
+ed7678d4bd8622e127c402d9a58e2f722c61a85a	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+a4773a4fe6ba7eeed163f76f83c417469c8a1871	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+ae96661ab27a9856bfb6b61707e14a7facccc25f	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+a7a26d77ee55f97a1e217df866c0efa1cd01c4be	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+0e7bceda4e751ba41dc73f6477647f7c5c540440	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and seizures.	false
+788226557cd3c5b20e176eb64677dab14058e504	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+bf4e2deceacb1c572b63ba7c0e47e0cb56f582c0	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @DISEASE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+8f24bc29844e72cee70135be02e4953e0701544b	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and seizures.	false
+518893e3cff525af95c134ca55299a203f9ee61b	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+1a0490ebff66d7c832918d47420a5f22db7caa82	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @DISEASE$, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+6a73e433e35900a993cef07de930d196bf08866a	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+e236e782bda35868b831b92f752d8196e8bc48ed	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+f42e6c918717b61d3e87f60bc3600065983a833d	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and seizures.	false
+6917405d917be952e329f8c810f4a067a652257a	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+b18bb9a5d17e399aedb8267976ae6799287d8155	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, @DISEASE$ or palate, cardiac defects, growth and mental retardation and seizures.	false
+5d1df34206a9b870f294dad1cf5e0ca472b58fdb	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @DISEASE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+bf66a54ab27dd87ee35a2c9b87538c460161a77b	@DISEASE$ (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, @PHENOTYPICFEATURE$, Greek helmet appearance of the facies, seizures/epilepsy.	has_symptom
+21d0057f9853fe9fb0a87113c10ad86d951e3e24	Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, @DISEASE$, Greek helmet appearance of the facies, @PHENOTYPICFEATURE$/epilepsy.	false
+1dd5ac4e03e2380437f791ea01257d3a26ee9369	@DISEASE$ (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, @PHENOTYPICFEATURE$/epilepsy.	false
+da61d9fefa48f0190f276f5a03fc6f6594eca8a1	A number of new reports of @DISEASE$, such as homogeneous bodies @PHENOTYPICFEATURE$, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations.	has_symptom
+0bdfaf4715996cd1a0df330f59f8f432aa8e03b4	Mutations in MEGF10 gene cause a @DISEASE$ called early onset @PHENOTYPICFEATURE$, areflexia, respiratory distress and dysphagia (EMARDD).	has_symptom
+9920277d4c2e9b49e1659d82656d6034df92309a	Bilateral @PHENOTYPICFEATURE$ with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and @DISEASE$.	has_symptom
+ed2a58a6da10264df630af412ccc08cb1af0fc2f	Bilateral microphthalmia with cyst, facial clefts, and @PHENOTYPICFEATURE$: a new syndrome with features of @DISEASE$, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.	false
+d11007e09c05fabdc4f6266f45a2ebf999757b91	Bilateral microphthalmia with cyst, facial clefts, and @PHENOTYPICFEATURE$: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and @DISEASE$.	false
+211f3de01d7a224c82de9488413264a0717fded1	Bilateral @DISEASE$ with cyst, facial clefts, and @PHENOTYPICFEATURE$: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.	false
+68a4ab7cdf6406916bfd313a5ec20af110df9c31	Bilateral microphthalmia with cyst, @DISEASE$, and @PHENOTYPICFEATURE$: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.	false
+c6f9eb57f9e2cc7065d206e9db5840a1c165bc28	A literature survey from the PubMed database from January 1966 to December 2008 used the Medical Subject Headings terms facial growth, unilateral @DISEASE$, cephalometry, and cleft severity @PHENOTYPICFEATURE$ width.	has_symptom
+1be27f5e952866ec699982eceb19750f022df2f2	We report findings from 2 focus groups of parents of children with @PHENOTYPICFEATURE$ (cleft lip, cleft palate, and @DISEASE$) in Utah and Idaho.	has_symptom
+d36680c400a37153cfc921d7de8f0e74b15fe098	We report findings from 2 focus groups of parents of children with oral clefts (@DISEASE$, @PHENOTYPICFEATURE$, and cleft lip and palate) in Utah and Idaho.	false
+9bbf17244a898af201d88d4e2fb340f858aa0a8f	We report findings from 2 focus groups of parents of children with @DISEASE$ (cleft lip, @PHENOTYPICFEATURE$, and cleft lip and palate) in Utah and Idaho.	false
+74f344d30612cd89ea213cd187353afc8fbf9345	We report findings from 2 focus groups of parents of children with oral clefts (cleft lip, @PHENOTYPICFEATURE$, and @DISEASE$) in Utah and Idaho.	false
+e34651160c260bcfc1e769e43610bc39eae7333e	Out of 145 @PHENOTYPICFEATURE$ recorded, cleft lip was 26.9%, @DISEASE$ 28.3% and cleft palate 44.8%.	has_symptom
+c0530e9420a98eda875b95dd2717aa3e3b0b385f	Out of 145 oral clefts recorded, @DISEASE$ was 26.9%, cleft lip and palate 28.3% and @PHENOTYPICFEATURE$ 44.8%.	false
+198109ecb5ede9c828191d9e5c61fe73560fcdd7	Out of 145 @DISEASE$ recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and @PHENOTYPICFEATURE$ 44.8%.	false
+97a5715d8ac4ba838b3ce0efb4a6ff0df6a0de69	Out of 145 oral clefts recorded, cleft lip was 26.9%, @DISEASE$ 28.3% and @PHENOTYPICFEATURE$ 44.8%.	false
+2ac0bd7e48aa3fd3572001825274030bd88d518a	This study aimed to analyze the dimensional alterations of the dental arches of 5-year-old children with @DISEASE$ and to compare these dimensions with children without @PHENOTYPICFEATURE$.	has_symptom
+e90f8541e34051364f5351f3955653f23de78fee	According to the parents' perception on the OHRQoL of children with and without @DISEASE$, oral health of children with @PHENOTYPICFEATURE$ (Group 1) had a statistically significant impact on OHRQoL.	has_symptom
+e37c4a24622ecc6e54eab304a5c82abd5e6078cb	The @DISEASE$ type were the highest among @PHENOTYPICFEATURE$.	has_symptom
+956336dc75837f9f6733bdbc0040ddb85d36c6f1	Five infants (7.3/1,000) had @PHENOTYPICFEATURE$: isolated cleft palate (3), isolated cleft lip (1), and @DISEASE$ (1).	has_symptom
+6f5061147f433afc417785d0d5b7f4623f8691d4	The incidence of @PHENOTYPICFEATURE$ was 1.75 per 1000, with @DISEASE$ (CL(P] 0.98 and cleft palate only (CP) 0.77 per 1000.	has_symptom
+b9011160b44cc4756177cc373767ac48b0e7f118	The incidence of @DISEASE$ was 1.75 per 1000, with cleft lip/palate (CL(P] 0.98 and @PHENOTYPICFEATURE$ only (CP) 0.77 per 1000.	false
+3a9363a62609e6dfb3d2d3b5304ae7545ae2a3cf	The incidence of oral clefts was 1.75 per 1000, with @DISEASE$ (CL(P] 0.98 and @PHENOTYPICFEATURE$ only (CP) 0.77 per 1000.	false
+b7cd8acdff39bd4366370ecf5872c4cb5e2bb77f	@DISEASE$ (@PHENOTYPICFEATURE$) are the most common congenital facial defects.	has_symptom
+cd5d1d302472882844255e46dfc556a6d355c418	In this study 105 Iranian infants with non-syndromic @DISEASE$ and 218 controls with non-cleft birth defects were examined to test for associations among maternal exposures, genetic markers, and @PHENOTYPICFEATURE$.	has_symptom
+7d0480825d853542fa3eee9ec714dab1c0832184	@DISEASE$ mice have increased susceptibility to @PHENOTYPICFEATURE$-inducing stimuli.	has_symptom
+887acd2f3682f0a8c162a6d16860b202f9966797	@DISEASE$ demonstrating @PHENOTYPICFEATURE$, arthritis, and bilateral hilar lymphadenopathy is called L?fgren's syndrome.	has_symptom
+0cb4c67efbd4ca08336bde91c7a7f978d42217a5	@DISEASE$ is an autosomal recessive multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome characterized by coarse face, distal limb hypoplasia, and diaphragmatic anomalies.	has_symptom
+c0a3fe1ce580b0d63928795483b792de810787a0	We performed a comprehensive literature and case report review to characterize the cardiovascular malformations (CVMs) associated with @DISEASE$ (OMIM #229850), a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome consisting of diaphragmatic defects, significant pulmonary hypoplasia, distinctive facial appearance, distal digital hypoplasia, and numerous other external and internal anomalies.	has_symptom
+312ef66309ca0f9c145c02d92d6702650a04018f	In patients with @DISEASE$ presenting without the diaphragmatic defect and lung-hypoplasia, survival beyond the neonatal period is possible; @PHENOTYPICFEATURE$ is present in all four patients described so far.	has_symptom
+1abd8a28ffd253ec3b6aae2c81e41c50caa43642	The neuronal ceroid lipofuscinoses (NCLs; @DISEASE$) are inherited neurodegenerative lysosomal storage diseases with common clinical features of @PHENOTYPICFEATURE$ and seizures culminating in premature death.	has_symptom
+c57893174a5625074e2e96264e40276f26a7f8c3	The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are inherited neurodegenerative lysosomal storage diseases with common clinical features of @DISEASE$ and @PHENOTYPICFEATURE$ culminating in premature death.	false
+d11d5b8f9664c682349c998141e994f9dbcc45aa	The neuronal ceroid lipofuscinoses (NCLs; @DISEASE$) are inherited neurodegenerative lysosomal storage diseases with common clinical features of blindness and @PHENOTYPICFEATURE$ culminating in premature death.	false
+6eb61bc577045639b5f04e682ee972f376e57432	The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are inherited neurodegenerative @DISEASE$ with common clinical features of blindness and @PHENOTYPICFEATURE$ culminating in premature death.	false
+6ed64e3eaa6c828ec37283380d60f9b6600db1e9	Juvenile neuronal ceroid lipofuscinosis or @DISEASE$ (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	has_symptom
+106bb159f3d00f21a21808c1534c6a1f988039ae	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	has_symptom
+f6a914d8d1b7b4fa603aaaad3c29353cc66cdf85	Juvenile neuronal ceroid lipofuscinosis or Batten disease (JNCL) is a neurodegenerative disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cognitive decline and early death.	false
+f92c985bd1b186ee7c43ff19783958a965458ae7	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	false
+77db78acf4c3553cd860169c444228f4716d1946	Juvenile neuronal ceroid lipofuscinosis or @DISEASE$ (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	false
+ed0c2a86c6ac836b67db09227ce62d3fe12e8a14	The neuronal ceroid lipofuscinoses (NCLs, @DISEASE$) are fatal inherited neurodegenerative diseases characterized by gross brain atrophy, @PHENOTYPICFEATURE$, and intracellular accumulation of lysosome-derived storage bodies.	has_symptom
+caf8e5254faceb871f25508847d59144ab234573	The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases characterized by gross @PHENOTYPICFEATURE$, @DISEASE$, and intracellular accumulation of lysosome-derived storage bodies.	false
+e994fd4c33117a90b7a93aba20546891900504d4	The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited @DISEASE$ characterized by gross @PHENOTYPICFEATURE$, blindness, and intracellular accumulation of lysosome-derived storage bodies.	false
+5147fd85bd922fdf4289c6553328618362ce86bd	The neuronal ceroid lipofuscinoses (NCLs, @DISEASE$) are fatal inherited neurodegenerative diseases characterized by gross @PHENOTYPICFEATURE$, blindness, and intracellular accumulation of lysosome-derived storage bodies.	false
+098181a14b690661433583a5f7ca0dec9f138787	Hallmarks of @DISEASE$ include cognitive and motor decline, seizures and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	has_symptom
+dd0935fa6bd732e70dc6169eae85b183ccf674ee	Hallmarks of Batten disease include cognitive and motor decline, @PHENOTYPICFEATURE$ and blindness due to @DISEASE$.	false
+85445f5872b6efe0055542e380390973e49b408b	Hallmarks of Batten disease include cognitive and motor decline, @PHENOTYPICFEATURE$ and @DISEASE$ due to retinitis pigmentosa.	false
+ab54f8ab0fecd6354074d9bcc4dd8e174df9e5ef	Hallmarks of @DISEASE$ include cognitive and motor decline, @PHENOTYPICFEATURE$ and blindness due to retinitis pigmentosa.	false
+bdbfae2b7ad7a215bd70893d03caf22c23888585	Deterioration of visual performance leading to @PHENOTYPICFEATURE$ is particularly severe in the early-onset forms of @DISEASE$.	has_symptom
+bd8f7f549ab22cecf22cc1cd1591a3a11e08d2c0	@DISEASE$ (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, @PHENOTYPICFEATURE$ and seizures, leading to premature death.	has_symptom
+0d385c92914c96b5f4e5bb04d5f98fc10d3bd9f1	@DISEASE$ (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and @PHENOTYPICFEATURE$, leading to premature death.	false
+b901f9cc5ed4134f01d36c7b228884e2ae05edf5	Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe @PHENOTYPICFEATURE$, @DISEASE$ and seizures, leading to premature death.	false
+cdf1825511dc8933a657f36776ed979e8c0f2d2d	Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, @DISEASE$ and @PHENOTYPICFEATURE$, leading to premature death.	false
+db13544370ab6ab637a84611eefe42bec92277c3	@DISEASE$ (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe @PHENOTYPICFEATURE$, blindness and seizures, leading to premature death.	false
+318574e2072d2b3cd715c54c6f1e926f336d2425	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline, and early death.	has_symptom
+1efdb70057113c2dcc1991e0074649a741e0dd01	@DISEASE$ is characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline, and early death.	false
+95e57df64ddffcb5cb2d376195906c2036301a0b	Batten disease is characterized by @DISEASE$, @PHENOTYPICFEATURE$, cognitive decline, and early death.	false
+528e751f1ecc43565fe6f5cab5e9f594f16b6fdc	Phenotypically, patients with @DISEASE$ have visual impairment and @PHENOTYPICFEATURE$, cognitive and motor decline, seizures and premature death.	has_symptom
+ecdd1ed0eaebcaf5c793bc49c3f3cf1a9bfdb194	Phenotypically, patients with @DISEASE$ have @PHENOTYPICFEATURE$ and blindness, cognitive and motor decline, seizures and premature death.	false
+3ddfac016df9a14664c4793b2f232323cd66362b	Phenotypically, patients with Batten disease have @PHENOTYPICFEATURE$ and @DISEASE$, cognitive and motor decline, seizures and premature death.	false
+4709352d473cae9a83796e154780a2ee6b737f89	Phenotypically, patients with Batten disease have visual impairment and @DISEASE$, cognitive and motor decline, @PHENOTYPICFEATURE$ and premature death.	false
+23457499e9e326b6d0abf1b7f2a84a4b59c20e98	Phenotypically, patients with @DISEASE$ have visual impairment and blindness, cognitive and motor decline, @PHENOTYPICFEATURE$ and premature death.	false
+d9ace76d03a86f416ed7abafedb9cb7dd96bbdfc	@DISEASE$ (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, and relentless decline in cognitive, motor, and behavioral function.	has_symptom
+7381e0d7a558cac3d63e4a4c4ab41814754f6e17	Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and relentless decline in cognitive, motor, and behavioral function.	false
+a3dffece284b12b0dd39703e771ee8f74eec637c	@DISEASE$ (juvenile neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, and relentless decline in cognitive, motor, and behavioral function.	false
+0faeac045746f4750ec149dbf56b184ad116a81c	The neuronal ceroid lipofuscinoses (NCLs, @DISEASE$) are fatal inherited lysosomal storage diseases of children characterized by increasing @PHENOTYPICFEATURE$, seizures and profound neurodegeneration but the mechanisms leading to these pathological changes remain unclear.	has_symptom
+bfd9038786f140220c1b45530ce462e9fedf0570	The neuronal ceroid lipofuscinoses (NCLs, @DISEASE$) are fatal inherited lysosomal storage diseases of children characterized by increasing blindness, @PHENOTYPICFEATURE$ and profound neurodegeneration but the mechanisms leading to these pathological changes remain unclear.	false
+64c587f916a8452df03844e2ca05a16a0d6fb7b9	The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited @DISEASE$ of children characterized by increasing blindness, @PHENOTYPICFEATURE$ and profound neurodegeneration but the mechanisms leading to these pathological changes remain unclear.	false
+b90856c2d1c21d83b3f9a9c1a60adf6c82665f10	The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited lysosomal storage diseases of children characterized by increasing @DISEASE$, @PHENOTYPICFEATURE$ and profound neurodegeneration but the mechanisms leading to these pathological changes remain unclear.	false
+bc686fb70795a0b43d7e1cee1437957ca0ecdfe5	X-linked syndromes associated with developmental delay and @PHENOTYPICFEATURE$ (SNHL) have been characterized at the molecular level, including @DISEASE$ and Norrie disease.	has_symptom
+fa18d38d6d4f0c5d0bf680234bbfffafa1e54ff9	@DISEASE$ is an X-linked condition characterized by postlingual @PHENOTYPICFEATURE$ in early childhood followed by dystonia, psychosis, and optic atrophy in adolescence and adulthood.	has_symptom
+09192d2d0d6686e3a80c29afe2703cd1125ab575	@DISEASE$ is an X-linked condition characterized by postlingual sensorineural hearing loss in early childhood followed by dystonia, psychosis, and @PHENOTYPICFEATURE$ in adolescence and adulthood.	false
+7f3034fdbc1457aeeeac5fdebcc5e62821dc106d	DDON syndrome is an X-linked condition characterized by postlingual sensorineural hearing loss in early childhood followed by @DISEASE$, psychosis, and @PHENOTYPICFEATURE$ in adolescence and adulthood.	false
+36301e40d0f4e6c1a8e24d9c51024a71d236cb26	DDON syndrome is an X-linked condition characterized by postlingual @DISEASE$ in early childhood followed by dystonia, psychosis, and @PHENOTYPICFEATURE$ in adolescence and adulthood.	false
+a2e34642b4f21dc7a01f66db742197a2a245a804	@DISEASE$ is a well-known clinical entity, with @PHENOTYPICFEATURE$ typically manifesting earlier than dystonia.	has_symptom
+c898264eb75b0ee9bb4803874135f982da1486c9	@DISEASE$ (MTS) is an X-linked, recessive, syndromic @PHENOTYPICFEATURE$ (HL) characterized by onset of deafness in childhood followed later in adult life by progressive neural degeneration affecting the brain and optic nerves.	has_symptom
+e0ec6b2570d6c585f73a9df376814fb12e5bec85	@DISEASE$ (MTS) is an X-linked, recessive, syndromic sensorineural hearing loss (HL) characterized by onset of @PHENOTYPICFEATURE$ in childhood followed later in adult life by progressive neural degeneration affecting the brain and optic nerves.	false
+359a5aea27a416b62a0f07167ac8a256287f938d	Mohr-Tranebjaerg syndrome (MTS) is an X-linked, recessive, @DISEASE$ sensorineural hearing loss (HL) characterized by onset of @PHENOTYPICFEATURE$ in childhood followed later in adult life by progressive neural degeneration affecting the brain and optic nerves.	false
+fefd4cc77e4175969d53ac473d9bb0e68e73b739	Mohr-Tranebjaerg syndrome (MTS) is an X-linked, recessive, syndromic @DISEASE$ (HL) characterized by onset of @PHENOTYPICFEATURE$ in childhood followed later in adult life by progressive neural degeneration affecting the brain and optic nerves.	false
+4176dc23117d49b85cdafb3f754b8d9fad111917	X linked agammaglobulinemia is a rare primary immunodeficiency characterized by low levels of B lymphocytes and recurrent microbial infections, whereas, @DISEASE$ is a progressive neurodegenerative disorder with early onset of @PHENOTYPICFEATURE$.	has_symptom
+3eccd5f09805f222a21b8e10c69e0e3a3b5a042c	The @DISEASE$ (MTS), a neurodegenerative syndrome characterized by progressive @PHENOTYPICFEATURE$, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	has_symptom
+e91a8cb974be94a9f06d589718ee877b213aef68	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive @DISEASE$, dystonia, @PHENOTYPICFEATURE$ and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+d2df385e293c7b5188c8d72a4187e90ea86b207f	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive @DISEASE$, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the @PHENOTYPICFEATURE$/dystonia peptide 1 (DDP1) gene.	false
+b3e2c566c9bf683da34782337d0b37c0c1f614c1	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, @DISEASE$, @PHENOTYPICFEATURE$ and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+65507223d13a55be47cc3bfb3c81317cfedd1b9c	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative @DISEASE$ characterized by progressive sensorineural hearing loss, dystonia, mental retardation and @PHENOTYPICFEATURE$, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+eaf4c9742d282a6a43e7dc4d79201783c078bffd	The @DISEASE$ (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and @PHENOTYPICFEATURE$, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+4d51385e700dffb1c7e84aa943739c458ee8d829	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative @DISEASE$ characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the @PHENOTYPICFEATURE$/dystonia peptide 1 (DDP1) gene.	false
+53fc16ee08eec95a559bb71e6d715ca83230df7a	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, @PHENOTYPICFEATURE$ and blindness, is a @DISEASE$ caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+7e777f5b5441cea1b4f60b3105e59305ff527a60	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a @DISEASE$ caused by mutations in the @PHENOTYPICFEATURE$/dystonia peptide 1 (DDP1) gene.	false
+3a3a587291775953e9910c52127407f31b164b05	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, @DISEASE$, mental retardation and blindness, is a mitochondrial disease caused by mutations in the @PHENOTYPICFEATURE$/dystonia peptide 1 (DDP1) gene.	false
+0a0cdbbb27b08ce3cf66a959cd216b0d588f2993	The @DISEASE$ (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, @PHENOTYPICFEATURE$ and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+11ebdd1ce5404ab49e477dedb9c82eb960027a88	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and @PHENOTYPICFEATURE$, is a @DISEASE$ caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+d2b2b05c916580115bd523b01ba39e3f9486f2a0	The @DISEASE$ (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the @PHENOTYPICFEATURE$/dystonia peptide 1 (DDP1) gene.	false
+6e8bf1b55d8c454da8045eb1a4a894fefb78c9cf	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, @DISEASE$, mental retardation and @PHENOTYPICFEATURE$, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+262c9501a98831316e72262b0c417b9fa784bce7	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and @PHENOTYPICFEATURE$, is a mitochondrial disease caused by mutations in the deafness/@DISEASE$ peptide 1 (DDP1) gene.	false
+95aa22c3950f75ef968fc27867c882ff296d9e7e	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive @DISEASE$, dystonia, mental retardation and @PHENOTYPICFEATURE$, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+da371a861e27fda87f970ef19070a0cbe3be4fdb	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, @PHENOTYPICFEATURE$ and blindness, is a mitochondrial disease caused by mutations in the deafness/@DISEASE$ peptide 1 (DDP1) gene.	false
+6ac4b549a93992617209bb793e7fcf7706d93100	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and blindness, is a mitochondrial disease caused by mutations in the @PHENOTYPICFEATURE$/@DISEASE$ peptide 1 (DDP1) gene.	false
+739337f648950138ea670004c66433fd91bbfb13	The Mohr-Tranebjaerg syndrome (MTS), a neurodegenerative @DISEASE$ characterized by progressive sensorineural hearing loss, dystonia, @PHENOTYPICFEATURE$ and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+e5771008584f834f467dd5ad386c1e4d1ab2e181	@PHENOTYPICFEATURE$ in @DISEASE$ is the result of a postnatal, progressive, severe auditory neuropathy.	has_symptom
+3434b41d81cd60385a60c9d4686bd29b92d9a4ae	Mutations in this gene have recently been shown to underlie the @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, dystonia, and mental deficiency.	has_symptom
+b21dd01431e042fb18ac9617938f2ab00db2bd91	Mutations in this gene have recently been shown to underlie the Mohr-Tranebjaerg syndrome, which is characterized by @DISEASE$, dystonia, and @PHENOTYPICFEATURE$.	false
+6152532998ecc8890489bb44be24f9afeb521505	Mutations in this gene have recently been shown to underlie the Mohr-Tranebjaerg syndrome, which is characterized by sensorineural deafness, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+842e6cc2a9a4f4bef0ac6b5e357921f47dfaa146	Mutations in this gene have recently been shown to underlie the @DISEASE$, which is characterized by sensorineural deafness, dystonia, and @PHENOTYPICFEATURE$.	false
+e0610f33ea796bb0bea2e04b05c9634f31294f07	@DISEASE$ is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary @PHENOTYPICFEATURE$.	has_symptom
+08acae8297d44a507771188638bb9a88876c45b4	Satoyoshi syndrome (@DISEASE$) is a rare disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary @PHENOTYPICFEATURE$.	has_symptom
+08696566ace76753e45eb2c153bb0cba4597f77e	@DISEASE$ (Komuragaeri disease) is a rare disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary @PHENOTYPICFEATURE$.	has_symptom
+1115d2d704e66636ad6a5fdb1339e896403cdcc2	@DISEASE$ is a rare neurological disorder of unknown etiology characterized by progressive muscle spasms, alopecia, diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+8e713c124071ad63976ee78aa27d09407ae29c88	@DISEASE$ is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and @PHENOTYPICFEATURE$ Adult-onset disease is reported only in five patients.	has_symptom
+7c5dab11bf9c31ecda1ea0b4d77943c0c62f8fe2	@DISEASE$ is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption amenorrhea and @PHENOTYPICFEATURE$ mimicking a skeletal dysplasia.	has_symptom
+255901c5b4b167cc3cecbc6a1f58eb4bd48c274a	Satoyoshi syndrome is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, @DISEASE$ amenorrhea and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+1c5c49e4cf4da6b931b1530d3b82b25c41086962	Satoyoshi syndrome is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption @DISEASE$ and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+0197511857505f3f5fcc8660a020a80e21e3a1be	Satoyoshi syndrome is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption amenorrhea and @DISEASE$ mimicking a @PHENOTYPICFEATURE$.	false
+7e68832e6f0004b91a64ee357ce8e922ca848299	@DISEASE$ is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption amenorrhea and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+5fc900c6bd80781af8c888e67fb6d43487c08c78	@DISEASE$ (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and @PHENOTYPICFEATURE$ mimicking a skeletal dysplasia.	has_symptom
+7f7f4b048fae7f9a88c44f53e0bdf81462c7c157	Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, @DISEASE$, and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+525a99e2359d942a640fc39ed807b9bb8ff93158	@DISEASE$ (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+075c7ec606e21b87f60fd260f71df7eb49699d93	Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and @DISEASE$ mimicking a @PHENOTYPICFEATURE$.	false
+3ad9b0275cd33a9823065ce206c1fa076435294b	This patient had alopecia, muscle spasms, and @PHENOTYPICFEATURE$, which are three of the most common clinical features of @DISEASE$.	has_symptom
+480fa9d085efcc693834ee9f90cb49c482eeee47	@DISEASE$ is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and @PHENOTYPICFEATURE$ mimicking a skeletal dysplasia.	has_symptom
+ffc0f51587b69f56040287cc1da48c2de8a601b0	Satoyoshi syndrome is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and @DISEASE$ mimicking a @PHENOTYPICFEATURE$.	false
+b5172fbd322cbdb0556d11c5bf87d3632726f734	@DISEASE$ is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+ef970f0f67d430e80ea2b67e6f0410ffe425c0cf	@DISEASE$ with unusual @PHENOTYPICFEATURE$ and parental consanguinity.	has_symptom
+dd0effe99845faac05e6a2edad998565ac30d368	@DISEASE$ is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe @PHENOTYPICFEATURE$ mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea.	has_symptom
+e38bc13feb59176f1d1ce3e0f77c4ef9deb4a1cb	Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe @DISEASE$ mimicking a @PHENOTYPICFEATURE$, malabsorption, alopecia, and amenorrhea.	false
+37001d911db56d75078a94270acdfa6ae2411d93	@DISEASE$ is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a @PHENOTYPICFEATURE$, malabsorption, alopecia, and amenorrhea.	false
+ad272fed4c7a81b1466f5a9dda249c760c0aecea	Acrocephalosyndactyl (@DISEASE$) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of @PHENOTYPICFEATURE$, syndactyly, and polydacytly.	has_symptom
+45741c6b2e748aaf5f010b32bb49552540baaa4e	Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of @DISEASE$, @PHENOTYPICFEATURE$, and polydacytly.	false
+05dba99d921a7a9b05b6f9c63e49ec83f3aa1851	Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural @DISEASE$ and hand and foot anomalies consisting principally of brachydactyly, @PHENOTYPICFEATURE$, and polydacytly.	false
+2331412454d44e13014668f7f2b735e66dae8bd9	Acrocephalosyndactyl (@DISEASE$) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, @PHENOTYPICFEATURE$, and polydacytly.	false
+799e8cdf3286eea5c256530cd0e4d8257b04d426	An 8-year-old boy who was diagnosed to have @DISEASE$ had moderate growth and @PHENOTYPICFEATURE$.	has_symptom
+d0cea70e9dcd51d13621312625c5b0005b0c56ec	@DISEASE$ in a @PHENOTYPICFEATURE$ girl with rare deletion of the long arm of chromosome 4.	has_symptom
+519f2db5008ca1a9629c48f46e720a4bfb2112e5	De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1e7a47bdb7e13de9be80aa35f9430a4ba17df443	Autosomal dominant @DISEASE$ and @PHENOTYPICFEATURE$ syndrome associated with a t(1;2) (p22.1;q36).	has_symptom
+62ba93a52bfa36a611f8169856a16dbb39ed6904	Using DNA of a patient with @DISEASE$, @PHENOTYPICFEATURE$, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1)	has_symptom
+99e4a5edacceaeee755e20a3a70034fe5af1b6c2	@DISEASE$ (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, @PHENOTYPICFEATURE$, and a characteristic "question-mark" ear malformation.	has_symptom
+7b56c64b1e38c8933dcaca3ad57c1ac51a857000	@DISEASE$ (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	false
+591a58e8c778b6308802c37811f92c51f851dfa7	Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial @DISEASE$ characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	false
+ac668d8dbf2deb768d9adab4024af4bd77b7abf2	Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, @DISEASE$, and a characteristic "question-mark" ear malformation.	false
+faa1744c48e25dc6f7c8e128866ceb07336e4dd1	Auriculocondylar syndrome (@DISEASE$) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+960cd991caf826f83a993b1f4dc5ec1838425aa9	This paper is a review of some aspects of acute pancreatitis (AP) (definition criteria, outcome, and prognostic factors) and a reminder of the invaluable contribution of computed tomography (CT) in confirming the diagnosis of AP, distinguishing between @PHENOTYPICFEATURE$ and necrotizing forms, and in providing prognostic information via detection of possible extrapancreatic spreads (@DISEASE$).	has_symptom
+1a8ab2807a0a8b2657fe930efe6150c5fffd4f57	@DISEASE$ (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe @PHENOTYPICFEATURE$.	has_symptom
+e0e067f5a2b444596b968ecc99351ccd16a8e0f3	@DISEASE$ (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and @PHENOTYPICFEATURE$; it has been recently found to be associated with RNF216 mutation.	has_symptom
+c00bd91fa9576918060158a1c02b8a4063359323	@DISEASE$ (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by @PHENOTYPICFEATURE$, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation.	false
+6c936b9f9e8cafe0202d73773187f3db3595cc37	Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by @PHENOTYPICFEATURE$, dementia, reproductive defects and @DISEASE$; it has been recently found to be associated with RNF216 mutation.	false
+fd24b4014c9a5c38aec5e975ebc1a3f291ab6429	Gordon Holmes syndrome (GHS) is a distinct phenotype of @DISEASE$, characterized by @PHENOTYPICFEATURE$, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation.	false
+6884e96b6700e6a1703e6f2d296d0a9770ac9307	We report a case of @DISEASE$ (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, @PHENOTYPICFEATURE$ and infections.	has_symptom
+d79e813d36521ea96ff732139035673be4de5514	We report a case of @DISEASE$ (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to @PHENOTYPICFEATURE$ and coma, feeding difficulties, failure to thrive and infections.	false
+9a9df806018a95b255b68a8bab53c74d6119a9da	We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to @PHENOTYPICFEATURE$ and coma, feeding difficulties, @DISEASE$ and infections.	false
+5aae35d6b99f182990e30acece6ff3f9bd17c893	We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe @DISEASE$, occasionally leading to @PHENOTYPICFEATURE$ and coma, feeding difficulties, failure to thrive and infections.	false
+d56c0301c65493bc614ce61b5e24ec6c29628922	@DISEASE$ (PKU), which predisposes affected individuals to @PHENOTYPICFEATURE$, is caused by a deficiency of hepatic phenylalanine hydroxylase (PAH).	has_symptom
+0f2872d954ff79a7df92369809ab666a7eb07952	@DISEASE$ (PKU) is characterized by @PHENOTYPICFEATURE$ in untreated individuals and mild neurocognitive abnormalities in some early treated adults.	has_symptom
+b7126175aecf59d349b1f07efd6288357843f6b6	The four subjects had @DISEASE$, diagnosed on the basis of a high level of serum phenylalanine on a regular diet, and @PHENOTYPICFEATURE$.	has_symptom
+75ddce5cc084ab7bb6c78a4e0992d433b82e8f9c	Most widely recognized complications in cirrhotic patients include ascites, @PHENOTYPICFEATURE$, variceal bleeding, kidney dysfunction, and @DISEASE$; however, malnutrition and muscle wasting (sarcopenia) constitute common complications which negatively impact survival, quality of life, and response to stressors, such as infection and surgery in patients with cirrhosis.	has_symptom
+5a23a3fd7c2bbfe68891f5e5a67829010a981745	Among the ??all patients?? group NAbs frequency was 20%for @DISEASE$.9%for @PHENOTYPICFEATURE$, and 2.7% for urologic patients and 1.1% for other conditions.	has_symptom
+afec262d69494c5cf35f67bd8a7fc1f4b5e01fc7	For instance, ATM (@DISEASE$ mutated) SNPs have been associated with increased risk of breast, prostate, @PHENOTYPICFEATURE$, colon and early-onset lung cancer, and the intron 3 16-bp repeat in TP53 (tumour protein 53) is associated with an increased risk of lung cancer.	has_symptom
+ae237ff0a9a3cc85fdcd302ed299410fba2aeb66	For instance, ATM (ataxia telangiectasia mutated) SNPs have been associated with increased risk of breast, prostate, leukaemia, colon and early-onset lung cancer, and the intron 3 16-bp repeat in TP53 (@PHENOTYPICFEATURE$ protein 53) is associated with an increased risk of @DISEASE$.	false
+834623609cb8ae5a3ecfb73771f07cc9f58c26f4	For instance, ATM (@DISEASE$ mutated) SNPs have been associated with increased risk of breast, prostate, leukaemia, colon and early-onset lung cancer, and the intron 3 16-bp repeat in TP53 (@PHENOTYPICFEATURE$ protein 53) is associated with an increased risk of lung cancer.	false
+3796a577b744dae68bef345d5c51b0b85854cf6e	For instance, ATM (ataxia telangiectasia mutated) SNPs have been associated with increased risk of breast, prostate, @DISEASE$, colon and early-onset lung cancer, and the intron 3 16-bp repeat in TP53 (@PHENOTYPICFEATURE$ protein 53) is associated with an increased risk of lung cancer.	false
+fc709c69cf8d5120a94c85f894345d2bd9c9c47a	For instance, ATM (ataxia telangiectasia mutated) SNPs have been associated with increased risk of breast, prostate, leukaemia, colon and early-onset @DISEASE$, and the intron 3 16-bp repeat in TP53 (@PHENOTYPICFEATURE$ protein 53) is associated with an increased risk of lung cancer.	false
+988b8f478bf00127d671d2824b113d603487b480	T-prolymphocytic leukaemia (T-PLL) is a rare, sporadic @PHENOTYPICFEATURE$ similar to a mature T-cell leukaemia seen in some patients with @DISEASE$ (A-T), a recessive multisystem disorder caused by mutations of the ATM gene at chromosome 11q23.	has_symptom
+8fec22258a1fc5ebc5b3ab5765984df509245cec	@DISEASE$ is a rare hematologic disorder, characterized by repetitive episodes of @PHENOTYPICFEATURE$, mouth ulcers, and infections attributable to recurrent severe neutropenia.	has_symptom
+515ec2173659bb854d242643516d4a251006c851	Patients with @DISEASE$ may have myalgias, @PHENOTYPICFEATURE$, pharyngitis, oral ulcers, or bilateral anterior cervical adenitis.	has_symptom
+33f8a7b1170c1a72e689ff046a66bcc77486cec0	Beh?et's disease and complex aphthosis variants, such as ulcus vulvae acutum, mouth and genital ulcers with inflamed cartilage (MAGIC) syndrome, @PHENOTYPICFEATURE$, aphthosis, pharyngitis, and adenitis (FAPA) syndrome, and @DISEASE$, should be considered.	has_symptom
+b854c55164bc8d7d50a8615008c8b644e815a9a4	@DISEASE$ (CN) is characterized by recurrent infections, @PHENOTYPICFEATURE$, oral ulcerations, and severe periodontitis as result of the reduced host defences.	has_symptom
+7066c9964e880bc0db2dd7ae0086cd31d163d7ab	This paper describes a case report of a child with recurrent mouth ulcers, @PHENOTYPICFEATURE$, and later diagnosed with severe congenital @DISEASE$.	has_symptom
+dfec3e7f2c1c504b14536495092c7adb76ee8a38	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+a9532836ef47abbd8fdd3fbe38cb74afed2c083a	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+2ae0cf5d29c90f052559c0e57fa4716ae88d49ca	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	false
+c9949346fc5b634dbb162c4b45a95336bfaf0cba	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	false
+a46d5b22c834c5c3726744373a2126df361a3cd4	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	false
+32991686fa983d2a11dc95ecf9103f976de9d952	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fc7ea8bd7b8c904212169e400635607327b71014	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and @DISEASE$.	false
+a2d79ff22a82279fdf4fa4b0278761a3928271b8	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	false
+c121ef5b1f55864e261202b6bd1696497016bee6	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	false
+939d299915d40ca702c6c03e76af500905e3b730	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a @DISEASE$ characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	false
+139cd15b94b487ba2084a746ca98a98841b8079c	@DISEASE$ is a well-characterized condition causing distinctive physical characteristics, @PHENOTYPICFEATURE$, and multiple congenital malformations.	has_symptom
+bb4aefdf26757a47dd0772247650e60302ccfd24	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, atypical facial features, broad thumbs and toes, and scoliosis.	has_symptom
+ce64b7e562531dc8dbd288c2bb732725fdb449a5	The @DISEASE$ diagnosis is only clinical, and @PHENOTYPICFEATURE$ and dysmorphic features mainly characterize it.	has_symptom
+02a6c24bdb0a47c796a4c247cdca6f900763c5a9	The main features of @DISEASE$ include special facial appearance, broad thumbs, great toes and @PHENOTYPICFEATURE$.	has_symptom
+9215b97008b478f2d211a821831f5e4ade9fead8	@DISEASE$: broad thumbs and great toes, facial abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+f49b796b9f1766c12400230ad7eca9be110673ce	Rubinstein-Taybi syndromes: broad thumbs and great toes, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c6c99a4e5bae544b8e4db86fa448d1ed8283843e	@DISEASE$: broad thumbs and great toes, @PHENOTYPICFEATURE$ and mental retardation.	false
+f6d762ed85ed098915b4dd6421796c940d3e9f0f	@DISEASE$ is a syndrome of @PHENOTYPICFEATURE$ associated with broad thumbs and big toes.	has_symptom
+b388973a2e30c805cd36b04dcde97a4a09a236d4	Mutations of CBP, a gene with HAT function, cause the @PHENOTYPICFEATURE$-associated @DISEASE$.	has_symptom
+5bddd4290a1eb1f7f9a7b247e97247d7dd223991	[@DISEASE$ of broad thumbs and broad big toes with cranio-mandibulo-facial malformations and @PHENOTYPICFEATURE$].	has_symptom
+e427ddee026b05ef1fa8eee3153431e1e8305410	@DISEASE$ (RSTS) is a multiple congenital anomalies-@PHENOTYPICFEATURE$ syndrome.	has_symptom
+7d77508a4520c9317bc59b909283e64f9c616e73	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and @PHENOTYPICFEATURE$.	has_symptom
+aee8378bc42737c74251f8c7c1677ce47b4bf73e	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including @PHENOTYPICFEATURE$, ataxia and peripheral neuropathy.	false
+503386e71b6f820232b6e3bf059a4786b5ac7578	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, @DISEASE$, optic atrophy and a number of neurological symptoms including @PHENOTYPICFEATURE$, ataxia and peripheral neuropathy.	false
+37fa5619464d3ddef7be27fe749c4f737acd6c0e	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, @DISEASE$, optic atrophy and a number of neurological symptoms including deafness, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+a6c82953956be6f55d8425f297c48c7818dfe797	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$ and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy.	false
+60b603c2ce6f4aed8da10260877ed160163f726b	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$ and a number of neurological symptoms including deafness, ataxia and @DISEASE$.	false
+2a6fb65c10f18902675cec62a9abafe90a58e0bc	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a52cf0516684aab90dff27006c99268f1c50fa28	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including @PHENOTYPICFEATURE$, ataxia and @DISEASE$.	false
+89f31ce3e2cb30a3b3ef92a1f574b8207392002a	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$ and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy.	false
+a3df711346f8fdf1fd30f53c2311265b911af770	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+16a0babdf6e9fab305ee75b3f594ae527362ec38	Right @PHENOTYPICFEATURE$ is a main characteristic of @DISEASE$ (IPAH).	has_symptom
+46209061f140af018b0fbe08d20826143c5d98cb	CTA-derived left to right atrial size ratio distinguishes between pulmonary hypertension due to @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+8cae7b48ec951d03870f75559c283a853525462d	Pulmonary hypertension syndrome (PHS; ascites) in fast growing meat-type chickens (broilers) is characterized by the onset of @DISEASE$ (IPAH) leading to right-sided @PHENOTYPICFEATURE$ and terminal ascites.	has_symptom
+9f8297e7661f45506b5e8f993864114bc88ad9f7	Inspiratory muscle weakness has been described in patients with @PHENOTYPICFEATURE$ (CHF), and only recently in patients with @DISEASE$.	has_symptom
+4f5a497e5c4c8c209f09e93042b7c9d80dd3b8f2	Despite advances in treatment of @DISEASE$ (IPAH), there remains no medical cure, and patients can experience disease progression leading to right @PHENOTYPICFEATURE$, progressive exercise intolerance, and death.	has_symptom
+a85d680398e3048276c182f7facf3224960a35c1	Moreover, serum circ_0068481 levels were elevated in patients with @DISEASE$ and right @PHENOTYPICFEATURE$ and were able to predict right heart failure.	has_symptom
+2c3c7f48c75d3535cdaf96b49770a011262cb1be	Moreover, serum circ_0068481 levels were elevated in patients with @DISEASE$ and right heart failure and were able to predict right @PHENOTYPICFEATURE$.	has_symptom
+71e77c6b315319154df3ca11b2f6db928734cf13	To evaluate cardiopulmonary rehabilitation in patients with @DISEASE$ who had severe @PHENOTYPICFEATURE$.	has_symptom
+ca32a1ced919cda67b6a1b037dda9d68bd573225	Bartter syndrome type IV, also known as Bartter syndrome with @PHENOTYPICFEATURE$ (@DISEASE$), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear.	has_symptom
+0736488cf6c3471fb4b66228850d4fb98385f436	Bartter syndrome type IV, characterized by salt-losing nephropathies and @PHENOTYPICFEATURE$, is caused by mutations of @DISEASE$ or simultaneous mutations of both CLCNKA and CLCNKB.	has_symptom
+5beb2923f021150c59288b38446e4916752b9238	Mutation of @DISEASE$ causes Bartter syndrome with @PHENOTYPICFEATURE$ and kidney failure.	has_symptom
+023de0675aa02382cad758c883e674fa570ec1dc	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with @DISEASE$ renal crisis or anti-Ku and myositis, @PHENOTYPICFEATURE$ and joint contractures.	has_symptom
+e333826f508cd4ad398f1e5ab60ff9a06c2ee882	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with @DISEASE$ renal crisis or anti-Ku and myositis, arthritis and @PHENOTYPICFEATURE$.	false
+8597a918986b7b1804eff6b79447b1a22313a554	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and @DISEASE$, arthritis and @PHENOTYPICFEATURE$.	false
+7b8ab6d8421e83909d9a52d7e2016113564b8fa3	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and myositis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1c0fcb697002d5fc3197004b1e4134dbde422a5b	Of the 50 (30%) patients with genetically confirmed mitochondrial disease, 15 presented with hypokinesia (parkinsonism 3/15), hyperkinesia (@DISEASE$/15, myoclonus 3/15, chorea 2/15), and @PHENOTYPICFEATURE$ (3/15).	has_symptom
+5e49a570592360d3986cc2254e65b8e1d8bdd9c2	Identification of a novel monocytic phenotype in @DISEASE$ @PHENOTYPICFEATURE$ microenvironment.	has_symptom
+f08737ed62fb6967e0ac9d3132447305bd0baf3a	Prognostic impact of @PHENOTYPICFEATURE$-infiltrating Th2 and regulatory T cells in @DISEASE$.	has_symptom
+bc5d6241b59943b4af8f709b2d35b3ee52a343a2	CD163 versus CD68 in @PHENOTYPICFEATURE$ associated macrophages of @DISEASE$.	has_symptom
+0cbfb2c18c9176dcd41754cee5118952837eb270	The prognostic relevance of @PHENOTYPICFEATURE$ associated macrophages in advanced stage @DISEASE$.	has_symptom
+2f75d6b88dde88ad9dda7555a5d085158a652d1e	Prognostic role of @PHENOTYPICFEATURE$-associated macrophages and angiogenesis in @DISEASE$.	has_symptom
+515129ea7ba3fe477f69862da7b93bfc16e4848a	The @PHENOTYPICFEATURE$ had features intermediate between mediastinal large B cell lymphoma and @DISEASE$.	has_symptom
+c08adc1a6ae0d9abc000478fca29b2a713cd943f	The tumor has pathological features of @DISEASE$ enriched with the @PHENOTYPICFEATURE$ cells(>10%) and similar immunophenotype to classical Hodgkin lymphoma.	has_symptom
+5a4dbd5062cd55c01e8078245feb2282bfa2b188	The tumor has pathological features of classic Hodgkin lymphoma enriched with the @PHENOTYPICFEATURE$ cells(>10%) and similar immunophenotype to @DISEASE$.	has_symptom
+b87eacfa7fc829c351b2fe245a5da6bc9ff9fbc8	The @PHENOTYPICFEATURE$ has pathological features of @DISEASE$ enriched with the tumor cells(>10%) and similar immunophenotype to classical Hodgkin lymphoma.	has_symptom
+bc30e15bb25bd1ca5969a42f3e4757e4b3ab7b37	The @PHENOTYPICFEATURE$ has pathological features of classic Hodgkin lymphoma enriched with the tumor cells(>10%) and similar immunophenotype to @DISEASE$.	has_symptom
+5d7f5b9478f4cfd88ab18caf9ac6c033a1103dfb	The microenvironment in @DISEASE$: an actively shaped and essential @PHENOTYPICFEATURE$ component.	has_symptom
+0aaf5b66843fc3272b4e614c290d9b664a2a880a	Baseline plasma thymus and activation-regulated chemokine levels correlate with classical Hodgkin's lymphoma @PHENOTYPICFEATURE$ burden and serial levels correlate with response to treatment in patients with @DISEASE$.	has_symptom
+c533583b100f1400f0c81636e6d11e2baa48f5b5	Baseline plasma thymus and activation-regulated chemokine levels correlate with @DISEASE$ @PHENOTYPICFEATURE$ burden and serial levels correlate with response to treatment in patients with classical Hodgkin's lymphoma.	has_symptom
+2eb18c57b2b7d426f37b6802e7ad7e49b99e9294	FOXO1 is a @PHENOTYPICFEATURE$ suppressor in @DISEASE$.	has_symptom
+2bca0079079bd8c2c7e3ab70ddc4d825c26627d2	@PHENOTYPICFEATURE$ and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in @DISEASE$).	has_symptom
+cf3c790cb60b895a8fea43ed6c423a595b89d5c5	@PHENOTYPICFEATURE$ and EEG abnormalities in @DISEASE$: two case reports (EEG anomalies in Waardenburg's syndrome).	has_symptom
+8973cfed1e31e4f537588095a6e1fe3ba963558c	The final diagnoses were delayed development, @DISEASE$ with congenital heart disease and epilepsy, healthy infant, infantile convulsion, @PHENOTYPICFEATURE$ with history of low birth weight, in each case, and chromosomal aberration in four patients.	has_symptom
+91ba7c10253be3fcd92b5630cbc298cfc648bf38	Type 4 @DISEASE$ represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, @PHENOTYPICFEATURE$, peripheral neuropathy, and Hirschsprung disease.	has_symptom
+f313084c54d564105ecbfe1658db0398acb4e819	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+80ea3a043afc2a7f0387f30f75d8aef183983ea4	Type 4 @DISEASE$ represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, @PHENOTYPICFEATURE$, mental retardation, peripheral neuropathy, and Hirschsprung disease.	false
+4478d2d8f0ea62bd37fc3b85d3e6ef5781166864	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, @DISEASE$, @PHENOTYPICFEATURE$, and Hirschsprung disease.	false
+fa4c426c88bb35876af9ecb75d84867b266cab3a	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, @PHENOTYPICFEATURE$, @DISEASE$, peripheral neuropathy, and Hirschsprung disease.	false
+920e48d2b18db19f78a11eb2b3c6a2c4aa368943	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to @DISEASE$ anomalies, @PHENOTYPICFEATURE$, mental retardation, peripheral neuropathy, and Hirschsprung disease.	false
+4a7c921e36e0f380a405b50df834baa7da0a2660	Type 4 @DISEASE$ represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation, @PHENOTYPICFEATURE$, and Hirschsprung disease.	false
+87a8202b21a15c1c3fc7a5ae2a107d4cd2bc6131	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, @PHENOTYPICFEATURE$, mental retardation, peripheral neuropathy, and @DISEASE$.	false
+ff1cb559b36c55767de9ac5a7cb56b2bdc5c8f1b	Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to @DISEASE$ anomalies, deafness, mental retardation, @PHENOTYPICFEATURE$, and Hirschsprung disease.	false
+df0d6bb37f3225fba7d0b3d3a8d89d1dcbd11d64	A 17-year-old boy who was diagnosed with "@DISEASE$" showed moderate growth and @PHENOTYPICFEATURE$.	has_symptom
+70985dc62140896e667861b26b45d78a79300efe	The described case illustrates a systemic venous drainage that was severely abnormal in a newborn girl with a @DISEASE$ type II @PHENOTYPICFEATURE$.	has_symptom
+8ffeb084b23797bb2c48c421e3c78c101f633d4c	Genetic evidence has implicated haploinsufficiency of PHF21A, a gene that encodes a histone-binding protein, as the likely cause of @PHENOTYPICFEATURE$ and craniofacial abnormalities in @DISEASE$.	has_symptom
+2b63c808c582d80c1f74096d4211d8ab90c465e9	Seizures have been described in Potocki-Shaffer syndrome while @PHENOTYPICFEATURE$ has been described in both WAGR and @DISEASE$.	has_symptom
+63a7d5548fb1a01e02d83f6d478394328137ad07	Seizures have been described in @DISEASE$ while @PHENOTYPICFEATURE$ has been described in both WAGR and Potocki-Shaffer syndrome.	has_symptom
+57292623827bb5aa4af252f049a4a971499477f1	Translocations disrupting PHF21A in the @DISEASE$ region are associated with @PHENOTYPICFEATURE$ and craniofacial anomalies.	has_symptom
+593994e6031718ac895471e435bb422edceb33eb	@PHENOTYPICFEATURE$ and craniofacial anomalies explained: one more gene associated with @DISEASE$.	has_symptom
+362513678bc55df999194711afbeb64daac17655	Deletions in this region have been described in patients with @DISEASE$ (PSS), characterized by biparietal foramina, multiple exostoses, and @PHENOTYPICFEATURE$.	has_symptom
+099b4a7bb0336d1e78ab454898f21b31da890714	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	has_symptom
+83639ab99d951fc180ce2a7bfb6bc2690e1e6e15	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	has_symptom
+2832912682edc8af38a2b3e193fc9a819788bb36	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+08706423e450fdfe5f0834dc8392d9cb29bc8ab2	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @DISEASE$, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+c98f2373a3eb71e4b1b2eff36d270ad72f65d0ea	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+ff2656c04609f118fce37151968891ec44f3eb7e	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+510b8ef48f265fddc6de4ea87266d6a5cda89877	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+1429511678091757ad6cd94472c4c1bdc52623ec	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @DISEASE$, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+b1feeb36b8db6d02e62121bd9ac061541a1d78a1	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+5b2171c9be009895f9f226874f6df6ee547a1b8a	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @DISEASE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+f85eceea4c43b59f2567f62d2b96f9b662ec3c06	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+c90f127ae0ac88c3273220d7c2cb860a489e0336	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+2a552df55d690dbd8c1b04ddcaf81b3b1d2801e4	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @DISEASE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+3d2d4fd2fc9baa072a46fff92fc7586a397f6f81	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral @DISEASE$, genital abnormalities, seizures and a dysmorphic face.	false
+42122c0bd4d624aae822681b0b53d0ce62b83fab	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @DISEASE$, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+a7d000456d1d74f0fe2d880c61842a92d9c6aa22	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+3dc67f364ca65596ce5fc8ffbd12f9dce9aef8dc	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+87ac8a1bd4affd851eecfe84e3a86603dcc1c5cf	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+c60c3c0a97b93cdf0711dbfcc58c6b232b6ee4c9	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+4bf4bbe426b3a8163e4e5a3694a1b6c8eb9c3946	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+0ccda03462128b1525bb0e1200d80e4b8e62cfe6	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+3e52327be86a2e2f6e16970fd19232438e2e2c54	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+d994d7f847b2e52f096ec24b0e473190fae5e857	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @DISEASE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+9f895b632e30a34c2caa5d3f8e70331e8e2b2769	@DISEASE$ (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, @PHENOTYPICFEATURE$ (ID), and craniofacial anomalies (CFAs).	has_symptom
+4eca2c5c3a995dd7bff5be08c020e06e0ad38fe7	@DISEASE$: nature's solution to neonatal @PHENOTYPICFEATURE$?	has_symptom
+8c1f141f3ccaa31d3161536e40d13b70dd73bdad	The therapeutic concepts for patients with @DISEASE$ (FHH), neonatal hyperparathyroidism (NHPT), neonatal severe @PHENOTYPICFEATURE$ (NSHPT) and autosomal dominant hypocalcemia (ADH) are reviewed.	has_symptom
+cadda69a49bd13b1c1c8eff6aebd8646a6667bf9	The therapeutic concepts for patients with @DISEASE$ (FHH), neonatal @PHENOTYPICFEATURE$ (NHPT), neonatal severe hyperparathyroidism (NSHPT) and autosomal dominant hypocalcemia (ADH) are reviewed.	has_symptom
+878e34437415b969b60dd706c30679e43ead15bf	Neonatal @PHENOTYPICFEATURE$ and skeletal demineralization in an infant with @DISEASE$.	has_symptom
+e9f8f36788566e9c758ebebae820bcaf5d842945	A mouse model of human @DISEASE$ and neonatal severe @PHENOTYPICFEATURE$.	has_symptom
+ddb7c8f2663f3fed65ccf83ab81bfd541b0080f5	@DISEASE$ (FHH) and neonatal severe @PHENOTYPICFEATURE$ (NSHPT) are genetically determined variants of primary hyperparathyroidism.	has_symptom
+e1e2949df82673a73437e4e1d21265cecf3e0054	@DISEASE$ and neonatal severe @PHENOTYPICFEATURE$.	has_symptom
+f732d24bd0c33f44fcbb294772bc96c756e3eca7	[Severe neonatal @PHENOTYPICFEATURE$ in a family with @DISEASE$].	has_symptom
+ce88a95c033e55c7306b22a24586595b4a7b3d9d	The association between @DISEASE$ (FHH) and neonatal severe @PHENOTYPICFEATURE$ (NHPT) has been discussed.	has_symptom
+4c92c995122f6eda366ff8a8e50623d3c214831d	Calcium-sensing receptor mutations in @DISEASE$ and neonatal @PHENOTYPICFEATURE$.	has_symptom
+35bdf9467bf8c00d53fab9b8c4f73622667163dc	Loss-of-function mutations in human CaSR cause @DISEASE$ and neonatal severe @PHENOTYPICFEATURE$.	has_symptom
+822fc0c241b6ecafe832bd3007deaa8f33336d14	The purpose of the present study was to measure speech recognition thresholds in noise (SRTN) in patients with @PHENOTYPICFEATURE$ (SNHI) caused by mitochondrial mutation [@DISEASE$ (MELAS)] and in patients with SNHI from other causes and to compare them with those in normal hearing controls.	has_symptom
+8a43cb2b8f925748e25b1080901494445ab86cf1	A 29-year-old woman with @DISEASE$ presented with @PHENOTYPICFEATURE$ and diabetes mellitus and underwent multichannel cochlear implantation.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c67b7e5acdccdac503087511cb7fe49dee664445	Mitochondrial DNA (mtDNA) mutation associated with @PHENOTYPICFEATURE$ (SNHL) has previously been described in MELAS (@DISEASE$) and in aminoglycoside-induced deafness.	has_symptom
+f1eaa8cb6dd463137f6a9a96d80a32af9e31e62c	@PHENOTYPICFEATURE$ in @DISEASE$--case report.	has_symptom
+1494fc6e573b06f3c6ad1025136a49ef13a7fce5	Our study suggests that @PHENOTYPICFEATURE$ is an important feature in mitochondrial disorders and indicated that cochlear implantation can be recommended for patients with @DISEASE$ and others mitochondrial disorders.	has_symptom
+787c3061339b96fb66c45d5d415ffceb49fb2769	A case of @PHENOTYPICFEATURE$ (SNHL) in @DISEASE$, a variety of mitochondrial cytopathy, is presented.	has_symptom
+cf9456827f9e241101e32b53453c81c5c6c8e4d0	To investigate the relationship between intracranial lesions and @PHENOTYPICFEATURE$ in @DISEASE$ (NF1) patients.	has_symptom
+809980ad27dd19c6fdfd5248a984a0bad7adbfc5	@PHENOTYPICFEATURE$ as the first neurological symptom in von Recklinghausen disease (@DISEASE$, NF 1) in 10 year old boy with cerebral tumour was described.	has_symptom
+53848aa79a20ba818f7262439149bfe41252a94d	@PHENOTYPICFEATURE$ as the first neurological symptom in @DISEASE$ (Neurofibromatosis type 1, NF 1) in 10 year old boy with cerebral tumour was described.	has_symptom
+9427a34e7517ab66b0cb4b24d593f228e597d105	Epileptic seizure as the first neurological symptom in @DISEASE$ (Neurofibromatosis type 1, NF 1) in 10 year old boy with cerebral @PHENOTYPICFEATURE$ was described.	false
+10580dc4ae6c837fbe3857f475918fc14b95a396	@DISEASE$ as the first neurological symptom in von Recklinghausen disease (Neurofibromatosis type 1, NF 1) in 10 year old boy with cerebral @PHENOTYPICFEATURE$ was described.	false
+5b641b9c2d7edff4c1e2ad32b7a1cf1960f60683	Epileptic seizure as the first neurological symptom in von Recklinghausen disease (@DISEASE$, NF 1) in 10 year old boy with cerebral @PHENOTYPICFEATURE$ was described.	false
+9bd51897e4017b6e0342cb11bf591a2030f6b503	@DISEASE$ (NF1) is accompanied by @PHENOTYPICFEATURE$ in 4-7% of patients.	has_symptom
+af27390f78fbaf4b4a0b23947cd565664c3645ea	We report a patient with @DISEASE$ who was treated for a refractory @PHENOTYPICFEATURE$ disorder for 8 years.	has_symptom
+767fe14b42e809f516da8f69d8d3788f7bacc8eb	Increased @PHENOTYPICFEATURE$ susceptibility in a mouse model of @DISEASE$.	has_symptom
+07f40fbe45d6e40aa61ca5456c2d605b51315b68	A 17-year-old boy with @DISEASE$ presented with delayed puberty and @PHENOTYPICFEATURE$ of recent onset.	has_symptom
+c69e64663264de3ec25047101f746d16a050105f	Clinical features of @PHENOTYPICFEATURE$ occurring in a @DISEASE$ clinic population were examined in a retrospective study.	has_symptom
+e9fffe9cdd569523d55c134875c772de17c16902	@DISEASE$ (NF1) is related to a generally increased prevalence of @PHENOTYPICFEATURE$.	has_symptom
+9801445bd629afc11b5af829fa4f558e96a0b83e	Patterns of @PHENOTYPICFEATURE$ observed in association with @DISEASE$.	has_symptom
+2dfffcbb41afcacbb91620da2e979f4ed234e19a	@PHENOTYPICFEATURE$ in children with @DISEASE$: is neurofibromatosis type 1 enough?	has_symptom
+0b6148b788f84cfff2a497d7732c363e1a2e1f09	[@DISEASE$ and @PHENOTYPICFEATURE$ diagnosed by alpha-fetoprotein determination in 16th week of pregnancy].	has_symptom
+f6f035a2dab152cf539ea0fc23c220d7697ecf36	Fourteen (15.5%) of the 90 fetuses were diagnosed with @DISEASE$/anencephaly, 14 (15.5%) with encephalocele, 2 (2.2%) with iniencephaly, 60 (66.6%) with open @PHENOTYPICFEATURE$.	has_symptom
+33845c6ea9b594a996869b94fa5e138cb098f58a	This population included 66 fetuses with @PHENOTYPICFEATURE$, 46 with @DISEASE$/anencephaly, 21 with cephalocele and 11 with iniencephaly.	has_symptom
+48ef7764e43601ec40b1064d746c3a611e8b11ba	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, @DISEASE$, dementia, @PHENOTYPICFEATURE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	has_symptom
+34af2936d3c42f9315e49413318cf52c39eba4ba	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, @DISEASE$, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+e1383aafdf309640cce61e825b9579c2b7e79124	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, @PHENOTYPICFEATURE$, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and @DISEASE$.	false
+7820f395778e49a1e9a627bd5d5699b1f1fe57a4	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, Sneddon syndrome, dementia, @DISEASE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+4148b203e85f09d19bae19e112ea021636c39280	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic @DISEASE$, but neurological cases are the most frequent: headaches, stroke, encephalopathy, @PHENOTYPICFEATURE$, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+0f6a8532f551e956eeb830e81cc0abb17f32073b	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and @DISEASE$.	false
+87700f64045c804559b30ee70f0e26df7173ab1d	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic @DISEASE$, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+0a76e3470c869e27425b45bceb018bc767e124af	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, @PHENOTYPICFEATURE$, visual disturbances, Sneddon syndrome, dementia, @DISEASE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+b33f47ce1858b9f6d27aa9c533602b65e68f28dd	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, @PHENOTYPICFEATURE$, visual disturbances, @DISEASE$, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+e6b69855a5f4379e22882a5cab1e4f0936b54903	@DISEASE$ is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, @PHENOTYPICFEATURE$, transient ischaemic attacks (TIA), stroke, and seizures.	has_symptom
+1396ef896f62c10b8395de13d5d09e250cfe665e	Sneddon syndrome is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, @DISEASE$, transient ischaemic attacks (TIA), stroke, and @PHENOTYPICFEATURE$.	false
+e913ee69c6cd61cd0e96f8de98908f4c73a9dae3	@DISEASE$ is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, vertigo, transient ischaemic attacks (TIA), stroke, and @PHENOTYPICFEATURE$.	false
+0a3deb70f1633d3d5576bf91bc695ac7740a5e9f	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, hoarse deep voice and @PHENOTYPICFEATURE$.	has_symptom
+270304820ed3b7ae4aa79c4a769f07d8ee31e9c1	The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, @PHENOTYPICFEATURE$, hoarse deep voice and @DISEASE$.	false
+dfe5808ae79812e2d06a5b2dd680b5935a1da653	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, @PHENOTYPICFEATURE$, speech delay, hoarse deep voice and peripheral neuropathy.	false
+2245f8257612b3343352cac5e4685b23984e9120	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, @PHENOTYPICFEATURE$, hoarse deep voice and peripheral neuropathy.	false
+8c417d75493b0e5c5d05c426133080401902907d	The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, @PHENOTYPICFEATURE$, speech delay, hoarse deep voice and @DISEASE$.	false
+0c6210b294c6f0aba952a32072f8ed793008526a	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	has_symptom
+c9a28fef6c4ba396efe89469065ec35e98fbcc05	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+44ef2a7125a6f7b0ebab436188cf1ab7ead374a7	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+6d61f68466912dbc8ec56e364c38ee34286c75c0	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of @DISEASE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+2aa0752e0dbc02e77ca3bc26576a024d1bcfa7a9	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+d10d11fdc84d73e7f378a9a22fe047a8684b73c3	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of @DISEASE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+d49823b2bdb04e93ebbbd772d868d37c9c617a0c	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of @DISEASE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+2d1ecd06e80f6da3261cdf4ba1fb4829f7644665	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+306c304248a7db81c96454e02e72e0c90b0fc6ff	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+9dc27216e7858a827be2777e585745891b84a6f2	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of @DISEASE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f5d5e5c997a7ebb8b37458a63145441350106831	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+730adc4df331663a08df1c6422b0fa2f701c2fc8	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+d8ef08aec5ed6faed9beb9592c6411c6a300bbbf	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @DISEASE$, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+071c298d8f361d393db88ced1412b478c488a571	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f7a8a59c1fb8a656a70ce07083e4c2480c5ff86e	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+76f4f66049285e6568b160d2876d5220f5ee1d9c	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+a6cadcb3a2e286862c949b117a914d232aa75296	Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in @DISEASE$ with evident @PHENOTYPICFEATURE$.	has_symptom
+4478ace630efac50a90912b67ff465280886923d	X-linked syndrome of mental retardation, @PHENOTYPICFEATURE$, and hypertelorism: a new syndrome or a further example of the @DISEASE$?	has_symptom
+0e5a916c3f07904995aa084b273292a37550bba1	X-linked syndrome of mental retardation, short stature, and @PHENOTYPICFEATURE$: a new syndrome or a further example of the @DISEASE$?	false
+c0f777e73c29c80d4d2875c0d0c2914557f2cf6f	X-linked syndrome of mental retardation, @DISEASE$, and @PHENOTYPICFEATURE$: a new syndrome or a further example of the FG syndrome?	false
+480a46bc53a6a5d1c911c5efcd46b59cc2465be8	X-linked syndrome of @PHENOTYPICFEATURE$, @DISEASE$, and hypertelorism: a new syndrome or a further example of the FG syndrome?	false
+b74105b4ce318c47b0c6a9ad818d5c9eeb6c4871	X-linked syndrome of @PHENOTYPICFEATURE$, short stature, and hypertelorism: a new syndrome or a further example of the @DISEASE$?	false
+f883d0b33758521716dda38bb22f04e6a85e4742	In addition, tracheal and @PHENOTYPICFEATURE$ are common complications in patients with @DISEASE$, and these anomalies can lead to death [Kataoka et al., 2003].	has_symptom
+1a52b4269b4b8d99e9be6380c51374fb195978fc	@DISEASE$ is a neurodegenerative lysosomal storage disorder characterized by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+2e788418ad05d1321e411eeb186617ada0a99dac	@DISEASE$ (MPS IIIA) is an inherited neurodegenerative lysosomal storage disorder characterised by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+424657fc94755d05204413b535084f7129404a06	Unexpectedly high frequencies of plexiform neurofibromas, @PHENOTYPICFEATURE$, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the @DISEASE$ Program.	has_symptom
+5f57d2a1294cbb569b0db84ec44caba0ced0a52c	Large de novo DNA deletion in a patient with sporadic @DISEASE$, @PHENOTYPICFEATURE$, and dysmorphism.	has_symptom
+f78eb6e21fb92caea6a16e639e0660cac1a15bd2	We focus on this cascade because of recent exciting discoveries concerning the basis of @DISEASE$ (NF1) @PHENOTYPICFEATURE$, which link cognitive defects in this syndrome to disruptions of ras and its intracellular targets.	has_symptom
+3c6e0f8d2e40467fb95807350dde0bae3af527bb	We focus on this cascade because of recent exciting discoveries concerning the basis of neurofibromatosis type 1 (@DISEASE$) @PHENOTYPICFEATURE$, which link cognitive defects in this syndrome to disruptions of ras and its intracellular targets.	has_symptom
+0bcf1a6b5da27958e2c88c7aa17f1e682f91c041	@DISEASE$ (NF1) is a common neurogenetic disorder and an important cause of @PHENOTYPICFEATURE$.	has_symptom
+a54cb03242df150e62d438706f742c7a1860d64b	[A neurological and dermatological complex: Pringle's adenomatosis, @DISEASE$, @PHENOTYPICFEATURE$, epilepsy].	has_symptom
+0e3c933b5e1826323788185fed16d8362f42290f	Overall, intelligence in @DISEASE$ is normal and @PHENOTYPICFEATURE$ occurs in 6-7%.	has_symptom
+3a0df48c3d63fa8f2776fb7f033292f2c858c77a	Uncombable hair syndrome, @PHENOTYPICFEATURE$, single palmar crease and arched palate in a patient with @DISEASE$ type I.	has_symptom
+d4bd3a17c22c8fca0e28b2eb65594a14b6a86428	High frequencies of plexiform neurofibromas, @PHENOTYPICFEATURE$, learning difficulties, and scoliosis in Brazilian patients with @DISEASE$.	has_symptom
+f8f6990cb09c4a53c787fd86cab1c7354e302269	@PHENOTYPICFEATURE$ (MR) is frequent in @DISEASE$ (NF1).	has_symptom
+6a6380b6ba83549a44d613ba5d4f7af62f150f6d	Choroidal abnormalities and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0b295688002d036ea17abe098843e228fd0af606	@DISEASE$ (SCA27) is an uncommon cause of dominant @PHENOTYPICFEATURE$ among Chinese Han population.	has_symptom
+2ec1abdcf997a52e10220c9fd663c99824a7c9b7	A new variable phenotype in spinocerebellar @PHENOTYPICFEATURE$ 27 (@DISEASE$) caused by a deletion in the FGF14 gene.	has_symptom
+dc4b0d5606ddaa50506fe7e4eb4eef8377f9e3b9	This family demonstrates phenotypic variability of FGF14 deletions (@DISEASE$), fever sensitivity of @PHENOTYPICFEATURE$ and the added value of SNP-array analysis in making a diagnosis.	has_symptom
+c829a2638f119c3773172700036908aceb733b5c	This family demonstrates phenotypic variability of FGF14 deletions (@DISEASE$), @PHENOTYPICFEATURE$ sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis.	false
+9030be834cd72d5aace22f2d4a3ae3d859afec5b	This family demonstrates phenotypic variability of FGF14 deletions (SCA 27), @PHENOTYPICFEATURE$ @DISEASE$ of ataxia and the added value of SNP-array analysis in making a diagnosis.	false
+ef7a4c65929953c3181c9fb66b4c261f66eac52c	This family demonstrates phenotypic variability of FGF14 deletions (SCA 27), @PHENOTYPICFEATURE$ sensitivity of @DISEASE$ and the added value of SNP-array analysis in making a diagnosis.	false
+68c737ed44a13cf3effdc9d3807fd437e68560a9	A family with @DISEASE$ expansion and vitamin E deficiency @PHENOTYPICFEATURE$.	has_symptom
+5f6e3aab0d60538f2c2613e2519407eece56cc49	@DISEASE$ is an uncommon genetic condition and presents with gait disturbances, @PHENOTYPICFEATURE$, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.	has_symptom
+63f29d88a462d58e8afb304674f463e1bd7c685c	Sequence configuration of @DISEASE$ repeat expansions in a Japanese cohort of 797 @PHENOTYPICFEATURE$ subjects.	has_symptom
+a7370aa9731ee8f27062b2b4f0cb49ca786ee7f5	We describe the molecular genetic features and disease penetrance of 37 different families with @DISEASE$ @PHENOTYPICFEATURE$ from the United States, Canada, Japan, and Mexico.	has_symptom
+d9a250c2b31f74e31d1997e31a1c53206dc088f1	To establish whether the DNA expansion linked to @DISEASE$ (SCA 8) is associated with @PHENOTYPICFEATURE$ in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports.	has_symptom
+61abb6430688de26f3edea6315e17ba0bb32fa2c	To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (@DISEASE$) is associated with @PHENOTYPICFEATURE$ in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports.	has_symptom
+b26f845adc89c02549e4e40ed7bd25a36fc251d3	@DISEASE$: molecular genetic comparisons and haplotype analysis of 37 families with @PHENOTYPICFEATURE$.	has_symptom
+68070e3697af5f842609a08a297166bb04f32720	@DISEASE$ (SCA8) is a rare hereditary @PHENOTYPICFEATURE$ showing mainly pure cerebellar ataxia.	has_symptom
+8dd4362cb5818a757819b3247af34356b6f3f3cc	@DISEASE$ (SCA8) is a rare hereditary cerebellar ataxia showing mainly pure @PHENOTYPICFEATURE$.	has_symptom
+fc1f5b41ebd5204fc60d5991ed20919a214fac34	@DISEASE$ (SCA8) patients typically have a slowly progressive, adult-onset @PHENOTYPICFEATURE$.	has_symptom
+979fce581ee6d157f94118b6d22389f07b52730a	The objectives of this study were to: (i) establish whether the @DISEASE$ (SCA 8) expansion is associated with @PHENOTYPICFEATURE$ in Scotland; (ii) test the hypothesis that SCA 8 is associated with neuropsychological impairment; and (iii) review neuroradiological findings in SCA 8.	has_symptom
+b13b73f65310d83ae7ce515ab9120805898eef1c	The objectives of this study were to: (i) establish whether the spinocerebellar ataxia type 8 (@DISEASE$) expansion is associated with @PHENOTYPICFEATURE$ in Scotland; (ii) test the hypothesis that SCA 8 is associated with neuropsychological impairment; and (iii) review neuroradiological findings in SCA 8.	has_symptom
+14974f9989b4b435d0ec91a0e630c536c2d8fd6c	@DISEASE$ (SCA 8) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia.	has_symptom
+a9e0662082e58413b040f817effdc92e3f6e3a38	Spinocerebellar ataxia type 8 (@DISEASE$) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ with additional features, such as upper motor neuron signs, urinary incontinence and dysphagia.	has_symptom
+f3f2a11ccdb48f1261c75625d728be2c3b32af68	The default manifestation of mutations in ABCD1 is @DISEASE$, a slowly progressive dying-back axonopathy affecting both ascending and descending spinal cord tracts as well as in some cases, a @PHENOTYPICFEATURE$.	has_symptom
+eed155fa32ee29f6451b9468d807bdbd4a9060c8	In @DISEASE$ long tract degeneration of spinal cord, @PHENOTYPICFEATURE$, and variable CNS dysmyelinative to inflammatory demyelinative lesions are the dominant nervous system lesions.	has_symptom
+9cdc720be1b20d128738b6c2a4eec289381159f0	This syndrome of adrenal insufficiency, achalasia, alacrima, microcephaly, and @PHENOTYPICFEATURE$ is different from either @DISEASE$ or adrenoleukodystrophy.	has_symptom
+b3f0d3d3e86b075222740c83c6d7cbdd339ec700	This syndrome of @DISEASE$, achalasia, alacrima, @PHENOTYPICFEATURE$, and peripheral neuropathy is different from either adrenomyeloneuropathy or adrenoleukodystrophy.	false
+4cc74ad00a673ba0ef83e7bf3cb85ef654fd9967	This syndrome of adrenal insufficiency, achalasia, alacrima, @PHENOTYPICFEATURE$, and peripheral neuropathy is different from either @DISEASE$ or adrenoleukodystrophy.	false
+b432eb885351dcc7b610fb26b903b5724d2ad64f	This syndrome of adrenal insufficiency, achalasia, alacrima, @PHENOTYPICFEATURE$, and @DISEASE$ is different from either adrenomyeloneuropathy or adrenoleukodystrophy.	false
+27d07377bba642c8b6d4d892b983597cad78f5d8	@DISEASE$ differs from adrenoleukodystrophy in that it begins during adulthood and produces neurological symptoms, notably progressive spastic paraparesis associated with @PHENOTYPICFEATURE$.	has_symptom
+741d4c82ab5075cd802f954d1cf0d7a343b3d9f7	@PHENOTYPICFEATURE$ is frequently seen in adults with @DISEASE$.	has_symptom
+905185c00c466212305731339e3eabf137b929ef	@DISEASE$ is an X-linked recessive disorder characterized by myelopathy, @PHENOTYPICFEATURE$, and cerebral demyelination, which develop in association with the accumulation of very-long-chain fatty acids.	has_symptom
+0fdea5e07b6a07b2e894ac12e12d33e31391cdc0	A family is reported in which there is one case of @DISEASE$, one case of Addison's disease and at least three heterozygous females with spastic paraparesis and @PHENOTYPICFEATURE$.	has_symptom
+5fa21cfbf3de669f234e3e4fcca762e4bf798d7c	@DISEASE$ (AMN) is an X-linked storage disease of very-long-chain fatty acids that presents as primary adrenocortical failure combined with spastic paraparesis and @PHENOTYPICFEATURE$.	has_symptom
+985fe52c1984c2547d5fb8eb014bad9aa6aceb29	@DISEASE$ is often accompanied by mild @PHENOTYPICFEATURE$ or adrenal failure and usually presents in young men with spastic paraplegia.	has_symptom
+2d8f72e93dd57c293b181a1db7883e404ba94b5e	Facial leukemia cutis, leukemia-associated facial hemorrhages, @PHENOTYPICFEATURE$-induced cranial nerve facial palsies, and leukemia-provoked pure and mixed @DISEASE$ infections are discussed.	has_symptom
+ac99bcb8d287220c2853ed604d14f27ee0638879	@DISEASE$ leukemia cutis, leukemia-associated facial hemorrhages, @PHENOTYPICFEATURE$-induced cranial nerve facial palsies, and leukemia-provoked pure and mixed facial infections are discussed.	has_symptom
+0a61709cdce91834bc93a27852e417f6f425555d	The posterior region of the developing palate emerges as a potential target for therapeutic strategies in clinical management of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	has_symptom
+ea0ab33b0f8a68d4866f72c996b5a54fb6d199d5	The molecular bases underlying differential @DISEASE$ phenotypes are still poorly understood and it is unclear why @PHENOTYPICFEATURE$ is more frequent in patients carrying the S252W mutation.	has_symptom
+18c024b94686282641446ba37db8ce94b2b3ef07	Differential effects of FGFR2 mutations on syndactyly and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2a30720cab072f2714c6872a333640af5cb0ac2e	Differential effects of FGFR2 mutations on @PHENOTYPICFEATURE$ and cleft palate in @DISEASE$.	false
+4f0a08dd3c20e21e5453c8a05f4d1d14fa4063fa	Differential effects of FGFR2 mutations on @PHENOTYPICFEATURE$ and @DISEASE$ in Apert syndrome.	false
+ddd54e114c3c97713249e38dbbe93d8825896369	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, @PHENOTYPICFEATURE$, and mental deficiency.	has_symptom
+d056e5345afa512485abe0052bbb1cb00a1e6b40	@DISEASE$ patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and mental deficiency.	false
+ccf7791e4db140a0972a539acbac9997dd47ac2e	Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+38d636d70bf3c0fd21dc56a43dd01bb8969f2893	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and @PHENOTYPICFEATURE$.	false
+9dea436a0a671f27ed171e2471be7df9057265e7	Apert syndrome patients are different in clinical pathology, including @PHENOTYPICFEATURE$, @DISEASE$, and mental deficiency.	false
+e55e8355196873cc8bb7792ca8559de2403265a7	Five patients had a @PHENOTYPICFEATURE$, 4 had @DISEASE$, and hypernasality scores decreased in 3 patients.	has_symptom
+85bfe6ca4fae62b6b573bcb7e996c402d99b915c	To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with @DISEASE$ from 5?years and 2?months to 9?years and 10?months without @PHENOTYPICFEATURE$ were analyzed in this study.	has_symptom
+dea203edf5bbbaa3433d5e6cc23ff144b41430ff	To highlight the intrinsic facial and intraoral features of @DISEASE$, five Japanese individuals with Apert syndrome from 5?years and 2?months to 9?years and 10?months without @PHENOTYPICFEATURE$ were analyzed in this study.	has_symptom
+46617cb8ac0eb6f900889159be7946b63c2e5f6a	Of 3 patients with @DISEASE$ but no @PHENOTYPICFEATURE$, 2 (66.7%) also had a decrease in hypernasality scores.	has_symptom
+0e8a5989c28db3b357ec0f3e4ecd0cabac9abff0	Mental retardation, associated additional malformations, @PHENOTYPICFEATURE$, and extensive lateral palatal soft tissue swellings were more common in children with @DISEASE$.	has_symptom
+cb4e884e846aaea1e72b4b08b1392aa44eac2c8d	@PHENOTYPICFEATURE$, associated additional malformations, @DISEASE$, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome.	false
+7260046ece76555e6ef2fd66b586e0b828215162	@PHENOTYPICFEATURE$, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with @DISEASE$.	false
+e1de2732e0544df984ab5f035319c8ebb78340e3	@DISEASE$ can be associated with congenital left diaphragmatic hernia and @PHENOTYPICFEATURE$.	has_symptom
+523252ac6a9db95da54525569a98a840745b981f	We experienced the anesthetic management of a patient with @DISEASE$ who underwent partial resection of mandible and @PHENOTYPICFEATURE$ repair with nasotracheal intubation.	has_symptom
+db0adf99bc8984a90011d1e961465f2d7b8a3cd2	This paper reviews the epidemiology, pathologic features, pathogenesis, treatment, and outcome of familial @PHENOTYPICFEATURE$ (@DISEASE$ [hereditary nephritis]), thin basement membrane nephropathy), IgA nephropathy, Henoch-Sch?nlein purpura, and acute postinfectious glomerulonephritis.	has_symptom
+21d6621b0513d2b46cebe38d0562aca90e36efc7	This paper reviews the epidemiology, pathologic features, pathogenesis, treatment, and outcome of familial @PHENOTYPICFEATURE$ (Alport syndrome [@DISEASE$]), thin basement membrane nephropathy), IgA nephropathy, Henoch-Sch?nlein purpura, and acute postinfectious glomerulonephritis.	has_symptom
+cb4f942f21f9b3c6791b32179fd863f78a6facab	In 16 children with renal @PHENOTYPICFEATURE$, @DISEASE$ was suspected by renal biopsy, physical examination or family history.	has_symptom
+e84b56053bb09e19a070f4eee01857e57e2278ba	A highly progressive group included patients with rapidly progressive glomerulonephritis, diabetic nephropathy, membranoproliferative glomerulonephropathy, primary focal segmental sclerosis and diffuse proliferative lupus nephropathy, moderately progressive group included those with IgA nephropathy and @DISEASE$ and non-progressive group included patients with thin basement membrane nephropathy, minimal change nephrotic syndrome, idiopathic renal @PHENOTYPICFEATURE$ and urolithiasis.	has_symptom
+7d5231d2c8161d1c0a19bdb64f3dfd7858219e5e	This double-blind, randomized, placebo-controlled, multicenter phase III trial (NCT01485978; EudraCT-number 2010-024300-10) includes 120 pediatric patients aged 24 months to 18 years with early stages of @DISEASE$ (isolated @PHENOTYPICFEATURE$ or microalbuminuria).	has_symptom
+de062e76e1ed6fe503f9495c718237ac5ad4b251	Abnormal thinning, thickening, or variation in the thickness of the glomerular basement membrane (GBM) are caused by familial @PHENOTYPICFEATURE$, diabetes mellitus, and @DISEASE$, respectively.	has_symptom
+cb1cdff3710036124c6f885791cfe26df70d395a	Familial Danish Dementia (@DISEASE$) is an autosomal disease, which is distinguished by gradual loss of vision, @PHENOTYPICFEATURE$, progressive ataxia and dementia.	has_symptom
+66f20b0cf1e18efe90ebd9b5d0c38c1a3b6b0973	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cataracts, @PHENOTYPICFEATURE$, cerebellar ataxia and dementia.	has_symptom
+30586ffd561627fe3d6cf76024f2aabd32e96436	Familial Danish dementia (FDD) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cataracts, @DISEASE$, @PHENOTYPICFEATURE$ and dementia.	false
+525c65f5510fa569e3caf51f5afde400547890f4	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cataracts, hearing impairment, @PHENOTYPICFEATURE$ and dementia.	false
+67658c27924f82651be9086f17f6e87b0a1af92b	Familial Danish dementia (FDD) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of @PHENOTYPICFEATURE$, @DISEASE$, cerebellar ataxia and dementia.	false
+28b006d3d40b1d4705dc03d59e3277c016cd860f	Familial Danish dementia (FDD) is an autosomal dominant @DISEASE$ clinically characterized by the presence of cataracts, hearing impairment, @PHENOTYPICFEATURE$ and dementia.	false
+50efa06d5f6ebd7d4ec766e69eefe7c7fdcd6044	Familial Danish dementia (FDD) is an autosomal dominant @DISEASE$ clinically characterized by the presence of @PHENOTYPICFEATURE$, hearing impairment, cerebellar ataxia and dementia.	false
+f91caa047a0045d7d50fbb7d1edc8b2456187658	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of @PHENOTYPICFEATURE$, hearing impairment, cerebellar ataxia and dementia.	false
+535243a05ac134e6fd9edf9e100617baf03c3293	@DISEASE$ is clinically characterized by loss of vision, @PHENOTYPICFEATURE$, cerebellar ataxia and dementia.	has_symptom
+b7d17bf5866e0c0331aaa6d9f6187fcf76fa9876	@DISEASE$ is clinically characterized by loss of vision, hearing impairment, @PHENOTYPICFEATURE$ and dementia.	false
+3447dde4d7b4e5fdbc6b780c636c645d1db13190	FDD is clinically characterized by loss of vision, @DISEASE$, @PHENOTYPICFEATURE$ and dementia.	false
+4f236d43423e2fe010b21b0a4828603c79bcd887	Familial Danish dementia (@DISEASE$), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, @PHENOTYPICFEATURE$, progressive ataxia, and dementia.	has_symptom
+f819417ee7bd9d6a8e1da880e872cf21d1723104	Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, progressive ataxia, and dementia.	false
+b040e189eb4d728086f47e03e73ca7013e3aade6	Familial Danish dementia (@DISEASE$), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, deafness, progressive ataxia, and dementia.	false
+fae4248c54063814b1725da4f01894970a2141f1	Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, deafness, progressive @DISEASE$, and dementia.	false
+24bb7030ed0085108eec0e328765ec4abffcad32	Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, deafness, progressive ataxia, and @DISEASE$.	false
+a7d000456d1d74f0fe2d880c61842a92d9c6aa22	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	has_symptom
+40c1334f69399eb9ae2b91caa1bf355f3fa6b92a	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+66689955d6ccc59b50b265ab095192ec338fbb12	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral @DISEASE$, genital abnormalities, seizures and a dysmorphic face.	false
+ff2656c04609f118fce37151968891ec44f3eb7e	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+cecfa72315eabc2ff825c8b1a92ac9e4e6cb4598	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, @DISEASE$ and a dysmorphic face.	false
+33f6ac02e26034b29646711594cf431a5cd545da	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+45e31419793472e0ee425d1e58d301538aba3c5c	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+87ac8a1bd4affd851eecfe84e3a86603dcc1c5cf	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+4bf4bbe426b3a8163e4e5a3694a1b6c8eb9c3946	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+3e52327be86a2e2f6e16970fd19232438e2e2c54	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+7dff7c585f4c200521a71b1c335b79cb1e63ae76	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+94b70d4f026203306965be6bcd505da0a11d0703	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+83639ab99d951fc180ce2a7bfb6bc2690e1e6e15	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+2832912682edc8af38a2b3e193fc9a819788bb36	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+f85eceea4c43b59f2567f62d2b96f9b662ec3c06	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+c90f127ae0ac88c3273220d7c2cb860a489e0336	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+3d2d4fd2fc9baa072a46fff92fc7586a397f6f81	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral @DISEASE$, genital abnormalities, seizures and a dysmorphic face.	false
+33777d56b58b2a8529789d00de097fbe06dbf1d1	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @DISEASE$ and a dysmorphic face.	false
+c60c3c0a97b93cdf0711dbfcc58c6b232b6ee4c9	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+0ccda03462128b1525bb0e1200d80e4b8e62cfe6	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+8eb80b0b0fc9b41eea8faed73a69d7ccd5bea237	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, @DISEASE$ and a dysmorphic face.	false
+5ae83b4ba255adeadeaa33ece501efac5c2a3935	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+8ed31677c9de8af866675d485f8b41793304b5c3	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, @DISEASE$ and a dysmorphic face.	false
+ed176d5a0d7c9bd4cac5153d5508c3a5074e750e	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, genital abnormalities, seizures and a dysmorphic face.	false
+099b4a7bb0336d1e78ab454898f21b31da890714	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+b57e8cbb852bc5b6bd0ae07d1d481c98bd00d7fe	Subcortical band heterotopia (SBH) or @DISEASE$ is a malformation of cortical development that may be related to intractable epilepsy and @PHENOTYPICFEATURE$ or to mild epilepsy and slight mental delay or normal cognitive functions.	has_symptom
+73fef3100d15b3600ea054984a8a15a6be8c34c5	The authors report two girls with '@DISEASE$ presenting intractable partial epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+07e0cd917ecb3a92b424d7cd76707a1982319151	@DISEASE$ and @PHENOTYPICFEATURE$: is there a link?	has_symptom
+01cb519101b7d12059a60b6faa812d601b585789	He had clinical characteristics of @DISEASE$, including palpebral @PHENOTYPICFEATURE$, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and polydactyly of the feet, and growth failure.	has_symptom
+a589061a22544d7c4c38594878b7e53b6d769996	He had clinical characteristics of Escobar syndrome, including palpebral @DISEASE$, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and @PHENOTYPICFEATURE$ of the feet, and growth failure.	false
+cd4bcd7962d3b702047c920042bae2d50e411b8a	He had clinical characteristics of @DISEASE$, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and @PHENOTYPICFEATURE$ of the feet, and growth failure.	false
+752bdc9fdc816047f93c99cc2303b171a3c906ee	He had clinical characteristics of @DISEASE$, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, @PHENOTYPICFEATURE$ and polydactyly of the feet, and growth failure.	false
+5e0d5724b769d197b97778a26e9f3c70eeb80e56	He had clinical characteristics of Escobar syndrome, including palpebral @DISEASE$, auricular anomalies, pterygia with contracture of the elbow and knee joints, @PHENOTYPICFEATURE$ and polydactyly of the feet, and growth failure.	false
+a43574bc59161e4097255e51c7ac63c687458032	OFD syndrome type I, also known as the @DISEASE$ warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and @PHENOTYPICFEATURE$.	has_symptom
+da85ebf0058ea78c3a7a2f8874b5ef087f1c4962	@DISEASE$ syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and @PHENOTYPICFEATURE$.	has_symptom
+c83ba7956bcd5d6abe317010c9e8ecf65fad3ac4	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	has_symptom
+732c5937a1d98fdf2e7f7bf514cd1261524db872	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including @DISEASE$ and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+d926e2d166872ffe166784227a9d2d993f5001a7	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+e2889944bfb2d0c60cabe7f5a7d9879603163197	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including @DISEASE$ and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+1a33a28cd72aaa160ad0e9402e13e7b2ccbf5a7d	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+63de8fd5b629fd43f1f2d07c16ddaa0cb96b0c7b	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+0196f6d2ee15e36616924a783da5934652e09416	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or @DISEASE$, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+7c77ae24f4ed07cd95521832b57a240da99d4e72	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, @DISEASE$, micrognathia and glossal defects.	false
+02e0f70743b79803c3cae733134205d44ceab88d	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or @DISEASE$, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+b7314788e1ecea83fc0f60c41e0d0a912c8abdfa	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @DISEASE$, @PHENOTYPICFEATURE$ and glossal defects.	false
+a494e43dc6e01afc9e8dc3177b0a8d459da85d95	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+6aa5a44327aec9417e37e86b39198c0e56c71140	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, @PHENOTYPICFEATURE$, severe limb pain, and progressive joint contractures in some patients.	has_symptom
+a6679651d0a75902b825eca8a79787ed2914905e	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients.	false
+083ba2458f36fd0d75ff6deca5abba429c88f2eb	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+ae615e4ce74862b54b4420ef1a0d0c0998566f1c	Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, @DISEASE$, severe limb pain, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+2fa469f17d37496bb12a203258a36b90b2ea1ce4	Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, @DISEASE$, severe @PHENOTYPICFEATURE$, and progressive joint contractures in some patients.	false
+8448e66f29ba502b2fea63cfccc39291b2c32bb1	Camurati-Engelmann disease is characterized by @PHENOTYPICFEATURE$ of the long bones and the skull, @DISEASE$, severe limb pain, and progressive joint contractures in some patients.	false
+a8db1767bc4e404b416ca012380378310b73a64c	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe @PHENOTYPICFEATURE$, and progressive joint contractures in some patients.	false
+7f2fc617d22275ef25813aea318255005b770693	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$ and dysmorphic facial features among various physical abnormalities due to PACS1 mutation.	has_symptom
+242f4d3cb071ce39564a881f8133ca5d439e4c85	@DISEASE$ (SHMS), or Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) is a rare form of @PHENOTYPICFEATURE$ with distinct facial features.	has_symptom
+51575a0676cbbf1143f22c23a08b4d6d3dbab8bb	Thirty-three children (median age 0.6 years) with @DISEASE$ and @PHENOTYPICFEATURE$ who were treated with nasogastric feeding.	has_symptom
+ee03dd9fb2fadff5fe4019254dbb15acf41517fd	A patient with type II @DISEASE$ who developed refractory complex @PHENOTYPICFEATURE$.	has_symptom
+a4edcd43b10b667c3aec9191df9e72e1f0138023	@DISEASE$ or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, @PHENOTYPICFEATURE$, and if untreated can be fatal.	has_symptom
+960b6495278b7336b3d13e4594de09be3f40411d	Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, @DISEASE$, and if untreated can be fatal.	false
+7a9caa91eeca0b37214d1feb78cb591dedc254f0	Citrullinemia or @DISEASE$ in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, seizures, and if untreated can be fatal.	false
+16e272ca62020e0ed44f5c3b3d871b08ec3014bf	@DISEASE$ or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, seizures, and if untreated can be fatal.	false
+1a4174badbcdd977b29784e19b574b1c681b1043	@DISEASE$ (DA5) is clinically characterized by short stature, deep-set eyes, @PHENOTYPICFEATURE$, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles.	has_symptom
+3ed6394376e0934c2e04ab7b4c985b06d5e6c736	Distal arthrogryposis type 5 (DA5) is clinically characterized by @PHENOTYPICFEATURE$, deep-set eyes, @DISEASE$, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles.	false
+2c1285182a683bc26885dad7f353601397aae150	@DISEASE$ (DA5) is clinically characterized by @PHENOTYPICFEATURE$, deep-set eyes, ptosis, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles.	false
+5ea8c76f74d6d6e7ea063e1e7d95608d2a96ba85	The nevoid basal cell carcinoma syndrome, or @DISEASE$, is an autosomal dominant multiple system disorder with high penetrance and @PHENOTYPICFEATURE$, although it can also arise spontaneously.	has_symptom
+d2b5f166f09542810822ca703e508cd18bf0154b	The @DISEASE$, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and @PHENOTYPICFEATURE$, although it can also arise spontaneously.	has_symptom
+373c08f46a18e9887b52e9d42e4647c78f311ef2	The nevoid basal cell carcinoma syndrome, or @DISEASE$, is an @PHENOTYPICFEATURE$ multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously.	false
+d83644f871f2c0580197bb4e216221740ec38979	The @DISEASE$, or Gorlin-Goltz syndrome, is an @PHENOTYPICFEATURE$ multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously.	false
+a9874a2914e8bc848d5aa3b4c1988927745b746f	The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an @PHENOTYPICFEATURE$ multiple system disorder with high penetrance and @DISEASE$, although it can also arise spontaneously.	false
+9f6dc677998166c7804be88f5b74b18c26fe1a24	The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an @PHENOTYPICFEATURE$ multiple @DISEASE$ with high penetrance and variable expressions, although it can also arise spontaneously.	false
+c6df89991ed269fc0d9ba39c6525e58bbd2318da	We report a patient with @DISEASE$, hypergastrinemia and an incidental finding in a somatostatin receptor scintigraphy of an unsuspected bronchial @PHENOTYPICFEATURE$ that was confirmed histologically.	has_symptom
+ae1ccc624863cb616cc9c0376cfc8713891d6f90	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild @PHENOTYPICFEATURE$.	has_symptom
+58af2721e9179d50f92aae124a106c6dc4185536	Otofaciocervical syndrome (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and @PHENOTYPICFEATURE$, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild @DISEASE$.	false
+8fc7f2536d66b57786f32975debfda5923d0e15b	Otofaciocervical syndrome (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external @PHENOTYPICFEATURE$ with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild @DISEASE$.	false
+4c90fe0629190a115dc07e59aa118ed75ff91bab	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and @PHENOTYPICFEATURE$, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+0cc050c7e27e455f9cfbd0955647b6b810221c34	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external @PHENOTYPICFEATURE$ with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+23973626d58a92915204cb91cfd475271864a4fd	Otofaciocervical syndrome (OFCS) is an @DISEASE$ characterized by facial dysmorphism, external @PHENOTYPICFEATURE$ with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+59da561b6547124735f47df8591ec88559b2769f	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by @PHENOTYPICFEATURE$, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+25785ca37aa5cc0fc4495a0f0902e33eb78aa95c	Otofaciocervical syndrome (OFCS) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+a68db3f80c7c8508eabb922922cc8f6103ecebdb	Otofaciocervical syndrome (OFCS) is an @DISEASE$ characterized by facial dysmorphism, external ear anomalies with preauricular pits and @PHENOTYPICFEATURE$, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+da610dfcdf169200a3b0a44f8799482d56b8d23b	Otofaciocervical syndrome (OFCS) is an autosomal recessively inherited disorder characterized by @PHENOTYPICFEATURE$, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild @DISEASE$.	false
+e769fbc6bf6e3434fd3345102d2d4572c72b2cd0	@DISEASE$ (OFCS) is a rare disorder characterized by facial, ear, branchial, and musculoskeletal anomalies, along with hearing loss and mild @PHENOTYPICFEATURE$.	has_symptom
+2637892a44354c75221dfb88b1c59017143f4182	@DISEASE$ (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild @PHENOTYPICFEATURE$.	has_symptom
+40bf726524be924a812ac59b4d400b68d3f97214	Otofaciocervical syndrome (OFCS) is a rare disorder characterized by @DISEASE$ anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, @PHENOTYPICFEATURE$, and mild intellectual disability.	false
+4f6431d82ef61dad74820977be5eb109a6e6f89e	Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, @PHENOTYPICFEATURE$, and mild @DISEASE$.	false
+b72d272fb14d4ef0dfc0cb3610e248c240d57924	@DISEASE$ (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, @PHENOTYPICFEATURE$, and mild intellectual disability.	false
+b957b38dfb05381090df64bdcb04c383e6d3155a	Otofaciocervical syndrome (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, @DISEASE$, branchial defects, @PHENOTYPICFEATURE$, and mild intellectual disability.	false
+cee1081d1818d793178509bfa7b176b22fd61315	There have been few reports of the prospective treatment of @DISEASE$; however, our experience indicates the need for the prospective management and the rapid reduction of ammonia levels to avoid neonatal hyperammonemic @PHENOTYPICFEATURE$ and subsequent sequelae.	has_symptom
+79bf676a11a43b0198cabe63fc36f01d96775be2	In the short stature group, Coffin-Lowry syndrome (@DISEASE$), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	has_symptom
+439f46d5f20febf314fa83b0d3d3d2c848fc0a2d	In the short stature group, @DISEASE$ (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	has_symptom
+74faed5762caec49a287e778950408e6c26f1c9e	In the short stature group, Coffin-Lowry syndrome (@DISEASE$), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+540766bd27da0ef07e0bcefa0be635b820011d10	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent @DISEASE$, and type 4 Meier-Gorlin syndrome were identified.	false
+9f4b24a27d0a1d404e132ac667f069b7dfd8cc52	In the short stature group, Coffin-Lowry syndrome (CLS), @DISEASE$, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+1d3982e359f1139827a383cb3b5a393877f9bddc	In the short stature group, @DISEASE$ (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+2214bdae941cc4d367238e28d8a95e8fef6b4949	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with @DISEASE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+6746773bd0b0dbdb7f6adb6d5b108cd6e143edaa	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly @DISEASE$ with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+7de152ae3f21bafecac16458b523d2926d7f7ef1	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency @DISEASE$, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+eb2c9d306da97c245b96bcc8d4022a538ed2b488	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 @DISEASE$ were identified.	false
+0b574ba41c52df3f55dd1f4de33342abb45b57e1	Coloboma is often associated with @DISEASE$ and/or contralateral @PHENOTYPICFEATURE$.	has_symptom
+a010f976078d3ad80c4a38a890a24e91fb6f311f	@PHENOTYPICFEATURE$/@DISEASE$ (A/M) are rare congenital eye malformations.	has_symptom
+52445badf2f5c360a6d5582b4fd0661ff21e6e8e	Spontaneous @PHENOTYPICFEATURE$ and @DISEASE$ in white-tailed deer.	has_symptom
+9cdbd75d6949a888733099063d47eb77bba1d7b8	@PHENOTYPICFEATURE$/@DISEASE$ (A/M) represent severe developmental ocular malformations.	has_symptom
+8178e290afa515e34d77fe3fcb29f9385e6f7149	Part?2: Syndromes associated with @PHENOTYPICFEATURE$-@DISEASE$.	has_symptom
+9e9b78ae54ef65996cb4830372617f8523b1f060	Congenital @DISEASE$, @PHENOTYPICFEATURE$ and Coloboma among Live Births in Denmark.	has_symptom
+dece9077a560aab794573ffb879b9223f6f4d491	@PHENOTYPICFEATURE$/@DISEASE$ is the most frequent congenital eye malformation in the newborn.	has_symptom
+dff975c080b873268dc78d159ca84663c501a7e1	@PHENOTYPICFEATURE$/@DISEASE$ was more likely than other conditions to co-occur with other birth defects.	has_symptom
+7f019a1571848e4f772e19c6c4abadd54a8c66c5	Bilateral @PHENOTYPICFEATURE$ and unilateral @DISEASE$ in two siblings.	has_symptom
+18529a383da75c302cc1343cfd865d195b992691	Lacrimal drainage system anomalies in @DISEASE$ @PHENOTYPICFEATURE$ coloboma complex.	has_symptom
+004f4f3d7dbbeb8f8b118f129efd830538555213	The surprising finding of HCI of all four ventricles in @DISEASE$ must be kept in mind when evaluating patients with @PHENOTYPICFEATURE$ of unknown origin.	has_symptom
+6caf559f7e537ead727a7b4f5adea24a09f15222	We present an adolescent case with a history of fever, @PHENOTYPICFEATURE$ and ataxia, whose diagnosis was a central nervous system infection by Bartonella henselae associated with a @DISEASE$.	has_symptom
+7f83863f14a9bc7cddbccde16c259017523b6493	We present an adolescent case with a history of fever, vomiting and @PHENOTYPICFEATURE$, whose diagnosis was a central nervous system infection by Bartonella henselae associated with a @DISEASE$.	false
+9d70e9b1148fc5f5db8be50a2ec2e379fb9c7da0	We present an adolescent case with a history of fever, @DISEASE$ and @PHENOTYPICFEATURE$, whose diagnosis was a central nervous system infection by Bartonella henselae associated with a choroid plexus papilloma.	false
+1257e6f34ce286198a3ec14daaf619066498ffd8	@DISEASE$ (DBQD) is an autosomal recessive skeletal disorder characterized by @PHENOTYPICFEATURE$, joint laxity, short extremities, and progressive scoliosis.	has_symptom
+fd6e87f501816830abebcdf7453554a48c9a0ac8	Desbuquois dysplasia (@DISEASE$) is an autosomal recessive skeletal disorder characterized by @PHENOTYPICFEATURE$, joint laxity, short extremities, and progressive scoliosis.	has_symptom
+a08d0e7dba7fba0d44b407f2cd2afa0f5f1bccd2	Most frequent diagnoses were: essential tremor (89 patients), hereditary sensory-motor neuropathy (HSMN) type I (28), Huntington's chorea (13), progressive muscular dystrophy limb-girdle type (8), @DISEASE$ type I (9), HSMN type II (9), spinocerebellar ataxia (9), hereditary spastic paraplegia (7), spinal muscular atrophy type IV (5), myotonic dystrophy (5), @PHENOTYPICFEATURE$ (4), HSMN type III (4), spinal muscular atrophy type II and III (3), tuberous sclerosis (3).	has_symptom
+19cd42278e334e52fa0ed8f3087abcb00e278917	Most frequent diagnoses were: essential tremor (89 patients), hereditary sensory-motor neuropathy (HSMN) type I (28), Huntington's chorea (13), progressive muscular dystrophy limb-girdle type (8), @DISEASE$ type I (9), HSMN type II (9), spinocerebellar @PHENOTYPICFEATURE$ (9), hereditary spastic paraplegia (7), spinal muscular atrophy type IV (5), myotonic dystrophy (5), cerebellar ataxia (4), HSMN type III (4), spinal muscular atrophy type II and III (3), tuberous sclerosis (3).	has_symptom
+ca0c8485d27f788aa5932508947ef198edcea2d4	A 70-year-old woman with @DISEASE$ (NF-1) presented with a primary cerebellar pilocytic astrocytoma (PA) with anaplastic features manifesting as worsening headache and @PHENOTYPICFEATURE$.	has_symptom
+113e3d7bcd30423bce221744d22b157a9b9e151d	With the above clinical and laboratory findings a diagnosis of @DISEASE$ accociated with bathing trunk naevus and Friedrich's @PHENOTYPICFEATURE$ was entertained.	has_symptom
+8ca9106e09a80b663cbfe8552a51dae3425ca4ff	An unusual association of a rare variant of Friedreich's @PHENOTYPICFEATURE$ with type-I @DISEASE$ in a Nigerian Fulani family: a 5-year follow-up study.	has_symptom
+0320e06dfec511dd963decc3e80cc0a376157db5	A 6-year-old girl, previously diagnosed with @DISEASE$ (NF-1) presented with @PHENOTYPICFEATURE$ and symptoms of raised intracranial pressure.	has_symptom
+6611480ed32dc983defaeee1a4d760e9ec293d90	We report a case of a 2-year-old child with no prior family history of @DISEASE$ presenting with @PHENOTYPICFEATURE$ and brain-stem stroke.	has_symptom
+6e186ea3a5cecfdf319f96b267e1652d39e1a3a7	A significant number of major neurogenetic diseases have been defined at the molecular level in recent years, making it possible to determine precisely the genotype for familial Alzheimer's disease, Huntington's disease, Machado-Joseph disease, dominantly inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, myotonic muscular dystrophy, Duchenne-Becker muscular dystrophy, familial amyotrophic lateral sclerosis, and @DISEASE$.	has_symptom
+495d6c9736c433b1e89a04ad707ea73f758fc379	Bathing trunk naevus and @DISEASE$: a unique association of Friedrich's @PHENOTYPICFEATURE$.	has_symptom
+d9a1ba4e7186fe6fc5ff7a463a48fcb40f640220	These cases are reported because of the extreme rarity of Harding's variant of heredofamilial @PHENOTYPICFEATURE$ and the rarity of the association of this disorder with type-1 @DISEASE$.	has_symptom
+46c46ca0c6bf558ba280a2bd2bffce0f8ac3bee9	We separated three groups of diseases: 1) two relatively benign diseases, essential tremor and the HSMN, affecting half of our patients; 2) five severe and more common diseases (Huntington's chorea, progressive muscular dystrophy limb-girdle type, @DISEASE$ type I, spinocerebellar @PHENOTYPICFEATURE$, hereditary spastic paraplegia), affecting 1/4 of patients; and 3) a group of rare, mostly severe diseases, affecting the remaining 1/4 of patients.	has_symptom
+de9f36d3108ddd9b65f20f5fb950c79e9666ac07	@DISEASE$ (SMS) is a complex syndrome involving intellectual disabilities, @PHENOTYPICFEATURE$, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies.	has_symptom
+9a7ea292003bb407a570a81928ad9872c5a2c181	@DISEASE$ (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+8145bdb8a91085cdfdc7642669544bf542864ce0	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ @DISEASE$ associated with behavioral abnormalities and sleep disturbance.	false
+ab8058d9b42f807c85e6f610fa80689c1b2237d0	Smith-Magenis syndrome (SMS) is a multiple @DISEASE$/mental retardation syndrome associated with @PHENOTYPICFEATURE$ and sleep disturbance.	false
+e1133d861a38b2d3427b4c323258a143f0a43699	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation @DISEASE$ associated with @PHENOTYPICFEATURE$ and sleep disturbance.	false
+bab51e1e1051ce7605b370b68653c0f764231c42	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8b00701db26c672e40f887b48a1fca5df184b7c1	@DISEASE$ (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with @PHENOTYPICFEATURE$ and sleep disturbance.	false
+5299ae3056095dd4828b2cd122e56c5c928a02b9	@DISEASE$ (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome associated with behavioral abnormalities and sleep disturbance.	false
+2ee5980ea10885850d5f12be1bd25809c975ff20	Smith-Magenis syndrome (SMS) is a multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome associated with behavioral abnormalities and sleep disturbance.	false
+3529e96e1d61e6a0aa0d59aeb13fea78db593267	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome associated with behavioral abnormalities and @DISEASE$.	false
+97b71c95e83e0d1c1680fe7c91301975618c34c0	@DISEASE$ (SMS) is an intellectual disability syndrome with @PHENOTYPICFEATURE$, self-injurious behaviors and dysmorphic features.	has_symptom
+7dc6b70ad9c03eacdac7df540588d4adfcac80cd	Smith-Magenis syndrome (SMS) is an @PHENOTYPICFEATURE$ syndrome with @DISEASE$, self-injurious behaviors and dysmorphic features.	false
+4625050613ad7734db67545cbbda2f30b2359c0f	@DISEASE$ (SMS) is an @PHENOTYPICFEATURE$ syndrome with sleep disturbance, self-injurious behaviors and dysmorphic features.	false
+86bc0ebb21a4738df6f6d0a4a94d546ce2b0cef4	@DISEASE$ (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and @PHENOTYPICFEATURE$.	has_symptom
+fa09d34272864a5232d8e25a75068e6cbb3369b7	Smith-Magenis syndrome (SMS) is a @DISEASE$ characterized by developmental delay and @PHENOTYPICFEATURE$, a distinctive behavioral phenotype, and sleep disturbance.	false
+eae5993a13093a0fade2f456742b6bf551528167	@DISEASE$ (SMS) is a multisystem disorder characterized by developmental delay and @PHENOTYPICFEATURE$, a distinctive behavioral phenotype, and sleep disturbance.	false
+e1d95a3ab02208561e23e6570bf2247139ac70cd	Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and @PHENOTYPICFEATURE$, a distinctive behavioral phenotype, and @DISEASE$.	false
+1e92f8e0a029505676755633b29a83f16cf49bff	The objective was to determine the circadian rhythm of melatonin in the @DISEASE$ (SMS), which causes behavioral problems and @PHENOTYPICFEATURE$.	has_symptom
+32312ec16c960e1037fd83b201cfde23a93eb6ba	@DISEASE$ (SMS) is a complex genetic disorder characterized by @PHENOTYPICFEATURE$, multiple developmental anomalies, psychiatric behavior, and obesity.	has_symptom
+2d7d2f4ec135a737320b0bd9299dea201458eaea	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by @DISEASE$, multiple developmental anomalies, psychiatric behavior, and @PHENOTYPICFEATURE$.	false
+6998e1545f7c9b3332fe0af5e279858258e54b80	Smith-Magenis syndrome (SMS) is a complex @DISEASE$ characterized by sleep disturbance, multiple developmental anomalies, psychiatric behavior, and @PHENOTYPICFEATURE$.	false
+734803a2c522bc1f15b0f46a733d06fe157b77fc	@DISEASE$ (SMS) is a complex genetic disorder characterized by sleep disturbance, multiple developmental anomalies, psychiatric behavior, and @PHENOTYPICFEATURE$.	false
+7ead34277945382700cb6214b336571717f99bae	@DISEASE$ (SMS) is a neurodevelopmental disorder associated with intellectual disability, @PHENOTYPICFEATURE$, early onset obesity and vast behavioral deficits.	has_symptom
+0d60fe86e73173ae40f01820c11039592cfc7b92	@DISEASE$ (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset @PHENOTYPICFEATURE$ and vast behavioral deficits.	false
+940aa840bcd333561ffa5fdfa68ff8bcb2f7329e	Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, @DISEASE$, early onset @PHENOTYPICFEATURE$ and vast behavioral deficits.	false
+b15d6960008f70c21b34c1979be02dd388ef0de9	Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with @PHENOTYPICFEATURE$, @DISEASE$, early onset obesity and vast behavioral deficits.	false
+bdf23d50469058d9d752a70766c27f71366077ea	@DISEASE$ (SMS) is a neurodevelopmental disorder associated with @PHENOTYPICFEATURE$, sleep disturbances, early onset obesity and vast behavioral deficits.	false
+22dd3b20902c2de4d15de3e6f75739d4aa3f3060	@DISEASE$ (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and @PHENOTYPICFEATURE$, results from a 17p11.2	has_symptom
+f83b9f7861157226d2f1c936484543932c00ec77	@DISEASE$ (SMS), a neurodevelopmental disorder characterized by dysmorphic features, @PHENOTYPICFEATURE$ (ID), and sleep disturbances, results from a 17p11.2	false
+7564c11f80484174c9486977f77911ef956922e4	Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, @PHENOTYPICFEATURE$ (ID), and @DISEASE$, results from a 17p11.2	false
+8b3d44008f618a5017937dd2749ef46065bd71a8	@DISEASE$ is a multisystem disorder characterized by developmental delay and mental retardation, distinctive craniofacial features, @PHENOTYPICFEATURE$ and behavioral problems.	has_symptom
+87740af2f8873f1b02e62421ae065d0eb7874465	@DISEASE$ is a multisystem disorder characterized by developmental delay and @PHENOTYPICFEATURE$, distinctive craniofacial features, sleep disturbance and behavioral problems.	false
+2ff961bf0d001d4cd9095ac1459910b8455fc565	Smith-Magenis syndrome is a multisystem disorder characterized by developmental delay and @PHENOTYPICFEATURE$, distinctive craniofacial features, @DISEASE$ and behavioral problems.	false
+4af475e76b97fbf70aedaaffadb5195a01266d70	Smith-Magenis syndrome is a @DISEASE$ characterized by developmental delay and @PHENOTYPICFEATURE$, distinctive craniofacial features, sleep disturbance and behavioral problems.	false
+ad195fa7e8fa413677ab14cda85b47c175c9c28e	@DISEASE$ (SMS) is associated with @PHENOTYPICFEATURE$ and disrupted melatonin production.	has_symptom
+a80658a5f5945d216999e05a033ad42662875e5e	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/@PHENOTYPICFEATURE$, ataxia).	has_symptom
+f7215d7526e330e3e40efebca6b043ce42e7b49a	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @PHENOTYPICFEATURE$/@DISEASE$, ataxia).	false
+24efcd2f223e66cf637fa22eee78c4dd94b28280	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia).	false
+398cb72aa7caffa3eb382bf23c10e19e487fd80d	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, @PHENOTYPICFEATURE$).	false
+7fc116b5b89376c13be42bcf9e6f467d2cb71128	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/@DISEASE$, ataxia).	false
+8cd334300c27e41e14ffe9dbc0c9e038a8385d7a	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @PHENOTYPICFEATURE$/dysphagia, ataxia).	false
+432ad1efe84242ba13631fc38a59431a5e23ef03	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/@DISEASE$, @PHENOTYPICFEATURE$).	false
+0a8c5dd1b3d695765b1b0548932239ec68d0f943	Literature regarding the different degrees of hearing loss in patients with @DISEASE$ (CDLS) reports that half of the affected patients exhibit severe to profound @PHENOTYPICFEATURE$.	has_symptom
+85645532fc7a5e040a098ed6abbc9c46be32165c	Patients with @DISEASE$ (CdLS) are reported to have conductive (CHL) and @PHENOTYPICFEATURE$ (SNHL), but there is little information pertaining to the progression of hearing loss over time.	has_symptom
+cd9362c9140ce58bb669e655557a2c1ebec60e99	Two children with a congenital @DISEASE$ and a verified @PHENOTYPICFEATURE$ are presented.	has_symptom
+cc2f81743b00a3a7136153281df4980b5d4c9950	Our results demonstrate a high prevalence of peripheral @PHENOTYPICFEATURE$ in @DISEASE$, but brainstem immaturity was not ruled out in 2 cases.	has_symptom
+52795405f13f5d65f883797c7fa09d6e078e5707	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, @DISEASE$, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	has_symptom
+c6a9cbbffa5141655f54cc686a1df4702f279700	An unusual case of joint pains and @PHENOTYPICFEATURE$; berylliosis and pulmonary hypertension mistaken for @DISEASE$.	has_symptom
+3281299868fb5e808ce5f161f7569ef39cb6381c	The effect of salicylate on the sedimentation rate, @PHENOTYPICFEATURE$, and occurrence of valvular heart disease in @DISEASE$.	has_symptom
+f25b7ed8b50878a8740000bb7335e3f23eb0dd3b	In the @DISEASE$ patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), nausea and vomiting seen in 1125 sessions (26.4%), @PHENOTYPICFEATURE$ and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), hypoglycemia seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	has_symptom
+597ce8fff5cdf1d3818ba905f2fe9eb36dd938d4	In the ARF patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), @PHENOTYPICFEATURE$ seen in 1125 sessions (26.4%), fever and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), @DISEASE$ seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	false
+5bbf6daf5ab4fc922b82e5a124e78607f25845bd	In the @DISEASE$ patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), @PHENOTYPICFEATURE$ seen in 1125 sessions (26.4%), fever and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), hypoglycemia seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	false
+e6e698b4d59419b2a2fb7e0cc7c94af4762ef91d	In the ARF patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), @PHENOTYPICFEATURE$ seen in 1125 sessions (26.4%), @DISEASE$ and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), hypoglycemia seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	false
+3d48c030830bd65f6b90742a3ae917888566de86	At the age of 14 years she presented with carditis, migratory arthritis, @PHENOTYPICFEATURE$, elevated erythrocyte sedimentation rate as well as serological evidence for recent streptococcal infection providing a diagnosis of @DISEASE$.	has_symptom
+328e7a3b0544e7fd13d14991906aa897e07ebecf	A 19-year-old man presented with @PHENOTYPICFEATURE$, migratory polyarthritis, and palpitations; a diagnosis of @DISEASE$ was made.	has_symptom
+a3b0f99d9d0197e08d664588fd6067505936a286	No correlation was found between speA content of a strain and the ability to cause a specific disease, although strains possessing the speA gene were more likely to be associated with scarlet @PHENOTYPICFEATURE$ and @DISEASE$ than with other types of disease.	has_symptom
+d50c9c413e7dc8538fafa25dc72c5ffd64de7b4a	Based on the findings of mitral regurgitation, @PHENOTYPICFEATURE$, elevated acute phase reactants, and a high antistreptolysin O titer, the patient was diagnosed with @DISEASE$.	has_symptom
+877e006bab04d7a2f358342cb79509db6a3c5f04	Nineteen immunocompromised patients (hematologic malignancies [n = 8], solid-organ recipients [n = 8], AIDS [n = 3]) with hypoxemic @DISEASE$, @PHENOTYPICFEATURE$, and lung infiltrates were treated with NPPV delivered by a helmet.	has_symptom
+30fde6763e62dbce300b63380ebd979cfcee82dc	Long-term benzathine penicillin G (BPG) injections are effective in preventing recurrent acute rheumatic @PHENOTYPICFEATURE$ attacks and are recommended to be administered every 3-4 weeks for 10 years or until age 21 years to children who receive a diagnosis of @DISEASE$.	has_symptom
+071d559c3a3719fbe5a96ed976c3eab3bbd134ce	But, there are still some questions without answer, as for instance, what is the relation between the carrier and the risk of @DISEASE$; why the human alone is susceptible to rheumatic @PHENOTYPICFEATURE$; is the immunisation a future alternative approach, ets.	has_symptom
+4b9f0a187d42bc7a250436c166450661ef97a5f2	Until recently, @DISEASE$ (THC2) was considered an exceedingly rare form of autosomal dominant @PHENOTYPICFEATURE$ and only 2 families were known.	has_symptom
+9ef961abdddfbb734af388facfec1f08ab0d9c32	To investigate microstructural tissue changes of trigeminal nerve (TGN) in patients with @PHENOTYPICFEATURE$ @DISEASE$ (TN) by multiple diffusion metrics, and correlate the diffusion indexes with the clinical variables.	false
+9b9388076378ef332172c8064d55248e6bdf5b15	@DISEASE$ is characterized by marked intellectual impairment, @PHENOTYPICFEATURE$ episodes, and dysmorphic facial features.	has_symptom
+fa694a36c737342b60927ea7c459d311b6ccd24e	Pitt-Hopkins syndrome is characterized by marked @PHENOTYPICFEATURE$, hyperventilation episodes, and dysmorphic @DISEASE$ features.	false
+3bcf626dcbc523266558403ea097f51715797fa4	Pitt-Hopkins syndrome is characterized by marked @PHENOTYPICFEATURE$, @DISEASE$ episodes, and dysmorphic facial features.	false
+ef35f6a65c09e999b17cb5b9d2e3fa9ec2fafc1b	@DISEASE$ is characterized by marked @PHENOTYPICFEATURE$, hyperventilation episodes, and dysmorphic facial features.	false
+21c584e96a50f4b2c1a80c204b092551c5712be0	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, @PHENOTYPICFEATURE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	has_symptom
+db8238a8de5310ac9369da058cb98d8747aa149b	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @PHENOTYPICFEATURE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	has_symptom
+34ab733976fa8886f3eb5f016cc4f9ad4be666df	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, hyperventilation episodes are more common than @PHENOTYPICFEATURE$ and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+9a4c5d3a35ecafe3a5196a7b451fa4e37fbf3c5c	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than @PHENOTYPICFEATURE$ and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+502da1bdc9e25a6df8480d6a610d341063fc8b4f	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @DISEASE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop @PHENOTYPICFEATURE$.	false
+f54c0015c35282a2108c2ebb22966428fc5a083b	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop @PHENOTYPICFEATURE$.	false
+29e94a86281f9e4011b6566ba5599d709c391a68	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop @PHENOTYPICFEATURE$.	false
+d448790a147665d9ffaeaff3c1280afc2603bc45	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of @PHENOTYPICFEATURE$ and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @DISEASE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+d4cf99b2eedafd34a842b22720531824e749e26d	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of @PHENOTYPICFEATURE$ and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+93d2564fbf73631bf5c5a1265ea07fda8b9590f5	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @DISEASE$ episodes are more common than @PHENOTYPICFEATURE$ and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+cf2a068094f6fe2e539fa8439a3ca74abbbf34dc	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of @PHENOTYPICFEATURE$ and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+de6ed759ade6c343c2a3b4f4aa0cadd3cf7b2b66	@DISEASE$ (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by @PHENOTYPICFEATURE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	has_symptom
+9d2961a5062954759144e8cbbaa7f226bfa9634c	@DISEASE$ (PHS) is a probably underdiagnosed, syndromic @PHENOTYPICFEATURE$ disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+cfbd7a6d666c5ebe37fc52b1f0d3a980bc0354cc	Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, @DISEASE$ @PHENOTYPICFEATURE$ disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+f750681a394258b52c355cb63d325e703e0d2c13	Pitt-Hopkins syndrome (@DISEASE$) is a probably underdiagnosed, syndromic @PHENOTYPICFEATURE$ disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+dd51dc92c5a9f34728ac51a2ba169f82e6170389	Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic @PHENOTYPICFEATURE$ disorder, marked by @DISEASE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+2d10476668f9114905d0130e093718f7554f2b99	@DISEASE$ (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	has_symptom
+a53411c66e5dbf245cfef8b18ecdc0670151e311	Pitt-Hopkins syndrome (@DISEASE$) is a rare syndromic mental disorder, which is mainly characterized by severe motor and @PHENOTYPICFEATURE$ including absent language development, a characteristic facial gestalt and episodes of hyperventilation.	false
+70f7ae1df5c090fde22399183cc67547f5baa3d1	Pitt-Hopkins syndrome (PHS) is a rare @DISEASE$ mental disorder, which is mainly characterized by severe motor and @PHENOTYPICFEATURE$ including absent language development, a characteristic facial gestalt and episodes of hyperventilation.	false
+38a228b3ee8f1b9314d039dab106e1fb794ca7c8	Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and @PHENOTYPICFEATURE$ including absent language development, a characteristic facial gestalt and episodes of @DISEASE$.	false
+e2b812986f1a665168924f0f1937c3ba45e94d80	@DISEASE$ (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and @PHENOTYPICFEATURE$ including absent language development, a characteristic facial gestalt and episodes of hyperventilation.	false
+119ab1876908be897a81085993627a82073384d8	Pitt-Hopkins syndrome (PHS) is a rare syndromic @DISEASE$, which is mainly characterized by severe motor and @PHENOTYPICFEATURE$ including absent language development, a characteristic facial gestalt and episodes of hyperventilation.	false
+1b7e5b051b65b34ce6f8f4edb4fc93dc1bd048d1	Chromosome @DISEASE$ is a rare genomic disorder characterised by @PHENOTYPICFEATURE$, growth retardation, unusual facial morphology and other anomalies.	has_symptom
+f1967a8328fe38f81b8ce788403e9221b991c364	Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by @DISEASE$, @PHENOTYPICFEATURE$, unusual facial morphology and other anomalies.	false
+809c29864dbe59117f388aa9d052afa6f4cf3483	Chromosome @DISEASE$ is a rare genomic disorder characterised by intellectual disability, @PHENOTYPICFEATURE$, unusual facial morphology and other anomalies.	false
+b3fb7d8f2b8985ede7c77f39798afd4c99cfb46b	We suggest that, in addition to a comprehensive clinical examination, optical coherence tomography examination is implemented as part of an ophthalmological assessment for the @DISEASE$ patient with @PHENOTYPICFEATURE$.	has_symptom
+a61563f53ad7c9c69cc3d98ab9a434ed9945ed6e	Wolfram syndrome (WS), caused by mutations of the @DISEASE$ (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and @PHENOTYPICFEATURE$.	has_symptom
+e8d6db068369d7f81e9118331e1b4538660c0fa1	@DISEASE$ (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	has_symptom
+0d235aa8c7511610f9632f1d9c0e9dd8fb5fe97c	Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, and distinctive facial features.	false
+56f5c5d40921fe6eff399eeee3e129d35ab6fd70	@DISEASE$ (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	false
+a3e47cd7b7d164b9a1d5b2cd486ef366f35773ba	Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	false
+dcc0ec9b86d9e17c08d9539e61d8c6ee76d4e100	@DISEASE$ is @PHENOTYPICFEATURE$ dystrophy characterized by deposits of abnormal glycosaminoglycans in stromal lamellae and within endothelial cells.	has_symptom
+b09ed47c94464089a127ad71c69d70d44ff05d72	We describe rare cases of @DISEASE$ (@PHENOTYPICFEATURE$ communis) with unbalanced atrioventricular septal defect, left ventricular hypoplasia, and restrictive ventricular septal defect.	has_symptom
+ee74635fb45ec8de51d382122c3c68f887b0bcf2	Here we demonstrate that mouse embryos lacking Rac1 in neural crest cells (Rac1/Wnt1-Cre) showed abnormal craniofacial development including regional ectodermal detachment associated with mesenchymal acellularity culminating in cleft face at E12. Rac1/Wnt1-Cre mutants also displayed inappropriate remodelling of pharyngeal arch arteries and defective outflow tract septation resulting in the formation of a @DISEASE$ ('persistent @PHENOTYPICFEATURE$' or PTA).	has_symptom
+70985dc62140896e667861b26b45d78a79300efe	The described case illustrates a systemic venous drainage that was severely abnormal in a newborn girl with a @DISEASE$ type II @PHENOTYPICFEATURE$.	false
+00990e7ff7638c846f92a6e88ad8ab5e9b260322	@DISEASE$ (JATD) is a @PHENOTYPICFEATURE$ characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.	has_symptom
+e24fa03340b0baf5031da44491f7c5278e3c25f9	Jeune asphyxiating thoracic dystrophy (@DISEASE$) is a @PHENOTYPICFEATURE$ characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.	has_symptom
+b54a83d079ecd071310d539ab671e6e4e00de9fe	@DISEASE$ (asphyxiating thoracic dystrophy) is a rare @PHENOTYPICFEATURE$ mainly characterized by dystrophy of the thoracic cage.	has_symptom
+a32fd93900736b9c3a6a1f5212ec654a7acc957d	We report the case of a premature, very low birth weight, newborn with stigmata of @DISEASE$, a rare @PHENOTYPICFEATURE$, and marked renal involvement (i.e.	has_symptom
+fda9aa64e92f5275e0d4bfdffbca26c5c754295c	@DISEASE$ (asphyxiating thoracic dystrophy) is an autosomal recessive @PHENOTYPICFEATURE$ with multisystem involvement.	has_symptom
+c8ce71199a2e30eebac7dcba75994a459703fa2a	Asphyxiating thoracic dystrophy (ATD), or @DISEASE$, is a multisystem autosomal recessive disorder associated with a characteristic @PHENOTYPICFEATURE$ and variable renal, hepatic, pancreatic, and retinal abnormalities.	has_symptom
+4e552985e73ecb7b7e13e954ca5320a9fbd432fb	Asphyxiating thoracic dystrophy, or @DISEASE$, is an autosomal recessive @PHENOTYPICFEATURE$ with multiorgan involvement.	has_symptom
+05d43f6ce48d7209747153dac3316b930431559a	@DISEASE$ or asphyxiating thoracic dystrophy is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by a small thorax, short-limbed dwarfism, renal and hepatic anomalies.	has_symptom
+6f0fef5919ede4fb59eda7711f2ed8afbded20d3	@DISEASE$ or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterized by a small thorax, @PHENOTYPICFEATURE$, renal and hepatic anomalies.	false
+ef186091ee36227bd9ffbbbfda957cf51b49288d	Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterized by a small thorax, @PHENOTYPICFEATURE$, renal and @DISEASE$ anomalies.	false
+d626ce69bc181e4001910bf621225422cf7da503	Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive @DISEASE$ characterized by a small thorax, @PHENOTYPICFEATURE$, renal and hepatic anomalies.	false
+ba7aaabaa722a907a72df4634a2ce295a910e8b9	@DISEASE$ (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress.	has_symptom
+e4b18dd7e234cdd74d844d48d9f08a770554f3bc	Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive @DISEASE$ characterized by a small, narrow chest and variable @PHENOTYPICFEATURE$ with a considerable neonatal mortality as a result of respiratory distress.	false
+0679f1fc2e84ab163b458bd8083daf3281e94b96	@DISEASE$ (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable @PHENOTYPICFEATURE$ with a considerable neonatal mortality as a result of respiratory distress.	false
+32700585fca2f56147a20f423d3c2a002de6ccf6	Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the @PHENOTYPICFEATURE$ @DISEASE$ (JATD).	has_symptom
+714499428defa3649c62f207ad314fe9558a6658	Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the @PHENOTYPICFEATURE$ Jeune asphyxiating thoracic dystrophy (@DISEASE$).	has_symptom
+3579f3be4d16d7df58e8759ff27baacdabec0dcd	@DISEASE$ (asphyxiating thoracic dystrophy) is a rare disorder characterized by @PHENOTYPICFEATURE$, reduced diameter of the thoracic cage and extrathoracic organ involvement.	has_symptom
+2add909baee86fab0f1dbc31d40f11eefe2094f6	Familial @DISEASE$ presenting as a progressive @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+f8b039e1bb3bd48b82752d371efe9aa0205f6487	Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and @DISEASE$), severe @PHENOTYPICFEATURE$, and other neurological symptoms (Lesch-Nyhan disease, adenylosuccinase deficiency, and molybdenum cofactor deficiency).	has_symptom
+0e1c0f31e99077027c364f52af78969bea8cf994	@DISEASE$ should be considered in children with recurrent bacterial infections, microcephaly and @PHENOTYPICFEATURE$, in spite of having normal B-cell as well as normal IgM and IgA level.	has_symptom
+52d38f6b5906656145c3bb526e83b2787636b6aa	Cernunnos deficiency should be considered in children with recurrent bacterial infections, @PHENOTYPICFEATURE$ and @DISEASE$, in spite of having normal B-cell as well as normal IgM and IgA level.	false
+9b68e334c95c4cc194165d2205a5a4d4876e89fc	Cernunnos deficiency should be considered in children with recurrent @DISEASE$, @PHENOTYPICFEATURE$ and growth retardation, in spite of having normal B-cell as well as normal IgM and IgA level.	false
+617b3cb5ed8d1c5ecb8c89948ba6f692a70139a4	@DISEASE$ should be considered in children with recurrent bacterial infections, @PHENOTYPICFEATURE$ and growth retardation, in spite of having normal B-cell as well as normal IgM and IgA level.	false
+5d0bd661d155168d637d1842f92d952f521c041d	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	has_symptom
+46bcd7e0c2a737ac8ab5c5e42d6664a069e75544	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, @DISEASE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+a21494b03fea9f22b889b6aa3dc3ab1089b6911b	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	false
+6ec823070803622c15dfa61e0cbac80dc4ea4ee6	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+8c1f4acd4ba240330f4564837a93153d5c5b8f14	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 @DISEASE$).	false
+9661d82016e067a1daf94c368c8932ce902728b6	@PHENOTYPICFEATURE$ and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+bb94edc820502c8a862e4d955b55dd61e8bf4d3b	Microcephaly and @DISEASE$ are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+cc7be0fac535017432c62c5e3cb1a7276497981a	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 @DISEASE$).	false
+a6e808109826ae79d96c4cc4cfb809db4e01aa1f	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	false
+af5cb8052870dd13df65d618b0fdb14a8ba9c90b	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @DISEASE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+204f9f3114739256aaa0fbca0b99b36ce9b8da71	Microcephaly and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+ba5ac314cef01c28b40d3be1604ada7942c5dbb3	@PHENOTYPICFEATURE$ and @DISEASE$ are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+9ce3942c6226f5ea435aef7cce9884c070fcc151	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+0b5def26cefb355a36cd3cc21d323324dab9df6c	To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, @DISEASE$, proximal spinal muscular atrophy, steroid myopathy and neurosis special diagnostic indices have been developed based on specific @PHENOTYPICFEATURE$ (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between muscular weakness and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis.	has_symptom
+a7b968eff9779d1e0d4d1fc7eb4e6d587689c6f7	To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, @DISEASE$, proximal spinal muscular atrophy, steroid myopathy and neurosis special diagnostic indices have been developed based on specific muscular weakness (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between @PHENOTYPICFEATURE$ and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis.	has_symptom
+31cfdd274594918e8e2580a948452e2d862e6901	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	has_symptom
+5e1d8152c1f636fb7eb08337b4750b5c9b1f9b03	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+575a3103942da973329aba69d8243f6536b1d021	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+10f48848803a83d5757746720afd21cc7b8bac6e	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6514a0241b67d6e4689a49385c7113a992a8cb6d	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+f58f2c376cb9e2016af6ddaea30f087eb39208d1	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+7ec962552c2da08e8c156eff750cce2af96e1a24	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+0c433d502cc4f0d15d64f61a3e20b19e937cb9eb	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	has_symptom
+8db8631d067b829f05eec17faf979db72d8e89f0	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+98228dde03409f499b487a3e303ca06e59d76c76	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+8bb90e3347616eec8b63c96d2204801bdc52fbaf	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+577713e05d64e0ffc35fc01e1e9f28a32513c1cc	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and extremely short telomeres.	false
+5f26c57736defa4c9d929b8c5f4458ad04d7075e	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, @DISEASE$, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+e029c97f4336fd1b0dd01ac6456ac1dd60a9b926	@DISEASE$ (HHS) includes intrauterine growth retardation, @PHENOTYPICFEATURE$, mental retardation, cerebellar malformation, and pancytopenia.	has_symptom
+72aa41df344ffdf94d59b39978f14d54eb47de6e	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+fd0d5d3f2dc45a8f67406a4d49303010f3c7ff7a	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+4b1fcb56f3d08ceb4256207f41cd583b801ee9a0	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+75d43b3fd6a3bc9d2ccfca9bf1f9af27e9c5dff7	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+b9e5d27740083eeeec94a44d376bedf436fc07ed	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+97583fe9f5bfa0bafa7a1a171723088d8627b3e9	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+11aecb5b3168355ec14a9b55f69f37790587d465	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	has_symptom
+457c535f129f3bca17b7d2a5055e49ac304fe316	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and severe immunodeficiency in addition to features of DC.	false
+44d2d008650d6ec4fd779d9ec2b9e60e656ee629	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe @DISEASE$ in addition to features of DC.	false
+644a11fb5921bae1fde6b0b068842f094b7ca7bb	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+31f903ade51fb3e4b243bf8a0ae7d01f6b19bab0	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+afba7e5563454af6e018a4d3b985e9895d8bfce6	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, @DISEASE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+1dbadc3115467656f41c7fa3e6acafc37248902a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	has_symptom
+5a01287e9b96a67c65055afd2e0d73953403e88c	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @DISEASE$, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+45c5ceda7ae8dbb85f90845220736e503aef1249	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	false
+f80373c11866daf3d3c6d5e2e74c4108fdf3d962	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	false
+6294c29a401d216dbe0918493eaf4e25470f485a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+8b7a88ffcd5380dc26b7a7852bbe11b176c780ed	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+60a8cc49bef17cc7cce0d1867bcf94f14d8dd50c	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @DISEASE$, @PHENOTYPICFEATURE$, and growth retardation.	false
+bca14ac715112723b019cd65ee9d7e9897828786	@DISEASE$ is a severe multisystem disorder that is characterized by bone-marrow failure, intrauterine growth retardation, @PHENOTYPICFEATURE$, immunodeficiency, and cerebellar atrophy.	has_symptom
+9f01380a875856481065ddfb2a4769822d3657ab	We described a father and son with the @DISEASE$, ie, with renal @PHENOTYPICFEATURE$, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease.	has_symptom
+8fd05c82bcc22b8974630945fecbb3e37cc2eb43	A 59-year-old woman with kappa light-chain myeloma had @DISEASE$ characterized by renal @PHENOTYPICFEATURE$, generalized aminoaciduria, bicarbonaturia and decrease of phosphorus and uric acid reabsorption.	has_symptom
+39c8b3665ca6deaa1ef8fbb9408c67e299df52d3	Segmental sodium reabsorption in the proximal and distal tubule was evaluated by different methods in seven healthy subjects, seven patients with recurrent calcium nephrolithiasis, five patients with isolated renal @PHENOTYPICFEATURE$ and three patients with @DISEASE$.	has_symptom
+d2d0c0ced0d07b4f444fa1e527228294cc586d84	Glucosuria occurs in diabetes mellitus, generalized proximal tubular dysfunction of @DISEASE$, glucose-galactose malabsorption syndrome, and primary renal @PHENOTYPICFEATURE$.	has_symptom
+1ff01111e1e7c1b1ecd78161b75e02b16eaac42e	Renal tubular disorders may affect multiple ( e.g., @DISEASE$) or specific (e.g., nephrogenic diabetes insipidus, renal @PHENOTYPICFEATURE$) tubular functions.	has_symptom
+764049829cb7dea942fb9d5e7fdd62e39a93e644	A diagnosis of @DISEASE$ was based on renal @PHENOTYPICFEATURE$, hypophosphatemia, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	has_symptom
+ba89b571814b1d53e0e9fc55882413ccce415b27	A diagnosis of Fanconi syndrome was based on renal @DISEASE$, @PHENOTYPICFEATURE$, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+f467163af621a30887783ddc09b2c55009d72d24	A diagnosis of Fanconi syndrome was based on renal glycosuria, @PHENOTYPICFEATURE$, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and @DISEASE$.	false
+5b5cc26594179a64d065a7693a9709b020aa1ac2	A diagnosis of Fanconi syndrome was based on renal @DISEASE$, hypophosphatemia, @PHENOTYPICFEATURE$, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+7e6fa71e62c3c6a0f0ed306901863c251be8643a	A diagnosis of @DISEASE$ was based on renal glycosuria, @PHENOTYPICFEATURE$, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+6b9a2369b20d7455edfc9d5198444bcd6c7fbde3	A diagnosis of Fanconi syndrome was based on renal glycosuria, hypophosphatemia, @PHENOTYPICFEATURE$, and panaminoaciduria due to abnormal excretion from the kidney, and @DISEASE$.	false
+286456527d4944e0701dd98bb048161b9b93a05e	A diagnosis of @DISEASE$ was based on renal glycosuria, hypophosphatemia, @PHENOTYPICFEATURE$, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+4b189d2d073f75748b12cde322a41adf7a678215	@DISEASE$ was suggested by multiple proximal tubular defects including renal @PHENOTYPICFEATURE$, hyperuricosuria, hyperphosphaturia, proximal renal tubular acidosis, and kaliuresis leading to hypokalemia.	has_symptom
+f18e22dca5a0b591d99678d9d8dbd0b331b4ca8e	Patients with @DISEASE$ (TM) had higher rates of hypogonadism, multiple endocrinopathies, worse hyperglycaemia, subclinical @PHENOTYPICFEATURE$ and hypercalciuria.	has_symptom
+9eba4af387cc57efd2d573b799f2990605672062	Patients with beta thalassemia major (TM) had higher rates of @DISEASE$, multiple endocrinopathies, worse hyperglycaemia, subclinical hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+b6d241c889255b499cd20e7744bf860d52e61d14	Patients with @DISEASE$ (TM) had higher rates of hypogonadism, multiple endocrinopathies, worse hyperglycaemia, subclinical hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+98e34e3635d7c1cb9898a2f19139f6f8758ad016	Patients with beta thalassemia major (TM) had higher rates of hypogonadism, multiple endocrinopathies, worse hyperglycaemia, subclinical @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d224a5ebe69e9bcd3e722e4e28c2948899158044	The present fetus fulfilled the diagnosis of @DISEASE$ syndrome: Dysmorphic features, @PHENOTYPICFEATURE$ and lobulate tongue and polysyndactylies of the feet and hands.	has_symptom
+b031c7ce4222f815a02bb86a434de95b7bb364dc	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in @DISEASE$: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and @PHENOTYPICFEATURE$.	has_symptom
+5b2066ce638d492cd2b3303d1fc9466bad3bcdf7	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, @PHENOTYPICFEATURE$, upslanting palpebral fissures, and @DISEASE$.	false
+bed362da6c6707ee109190549ad488e56b5425d6	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in @DISEASE$: high forehead, broad nasal bridge, @PHENOTYPICFEATURE$, upslanting palpebral fissures, and micrognathia.	false
+5f7e066d7f0c236d964d9ae6d83e16652dc76f9d	@DISEASE$ is characterized by severe @PHENOTYPICFEATURE$, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, cardiac anomalies, and characteristic facial gestalt.	has_symptom
+98738ce68e444a058b40aeadf463a658f1fb4096	Okamoto syndrome is characterized by severe @DISEASE$, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, @PHENOTYPICFEATURE$, and characteristic facial gestalt.	false
+6a1dcbdfb13e5eb46dd984989f840b62f561d257	@DISEASE$ is characterized by severe intellectual disability, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, @PHENOTYPICFEATURE$, and characteristic facial gestalt.	false
+8c743d464a076f5e191c70fdf71c0aa8306a0c4e	Oral and dental findings in @DISEASE$ are common and they include thick prominent lips, high palate, midline lingual furrow, @PHENOTYPICFEATURE$, microdontia, delayed eruption, and early tooth loss.	has_symptom
+6ce19aad7d59747c2a53b4af064b9b1ef8f9ccf7	The aetiology of @PHENOTYPICFEATURE$ was @DISEASE$ type III, which had been diagnosed at the age of 9 years.	has_symptom
+55898c61aa32c5b2b7b00695b7566a5071a2b42e	Plasmapheresis (PE) was used in the treatment of three patients with biopsy proven @DISEASE$ (MCGN) of acute onset and @PHENOTYPICFEATURE$.	has_symptom
+855b2e88eef493859b5d8cf51d3e42efe5b29765	We describe a patient with @DISEASE$, @PHENOTYPICFEATURE$, hypoalbuminemia and massive proteinuria.	has_symptom
+34a1f03e2b394c002835aa4a53b0e1824894bf28	We describe a patient with membranoproliferative glomerulonephritis, renal failure, @PHENOTYPICFEATURE$ and massive @DISEASE$.	false
+c61875154943c0a96194b656a37928cf43318c3b	We describe a patient with membranoproliferative glomerulonephritis, @DISEASE$, @PHENOTYPICFEATURE$ and massive proteinuria.	false
+d0dcf6b3dfbaadb3d925731e922e78f4fc600551	We describe a patient with @DISEASE$, renal failure, @PHENOTYPICFEATURE$ and massive proteinuria.	false
+934ac4a5722fb00d9c5f565fb3194b311bad128b	The present study documents the occurrence of @PHENOTYPICFEATURE$ in 4 nephrotic patients including 3 with minor glomerular lesions and one with @DISEASE$.	has_symptom
+8912ee6fda9a40146191fc82c1201d7bd395edf3	Postmortem examination confirmed the presence of lymphocytic-plasmacytic thyroiditis, in conjunction with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ad495389652c45174df9491820a3a797660cca02	[A case of Crow-Fukase syndrome with @PHENOTYPICFEATURE$: its glomerular lesions are different from @DISEASE$].	has_symptom
+bfb8a20b3cc4e02c616c62c51bfb3649b1fc1294	@DISEASE$ (MPGN) is one of a group of glomerulonephritides that often begins in childhood and progresses to @PHENOTYPICFEATURE$.	has_symptom
+d7243cbb315a736a2cfca36092373811dfadbddf	Postpartum @PHENOTYPICFEATURE$ in a patient with @DISEASE$ type II.	has_symptom
+a8a27e140dc351ab25d15ff60fff91a819346bdd	We report a case of primary Sj?gren's syndrome complicated by Type III membranoproliferative glomerulonephritis, a specific type of @DISEASE$ never before reported in this setting, and describe a clinical course terminating in rapidly progressive @PHENOTYPICFEATURE$.	has_symptom
+14a3797d9849d301ff29a11e2c48fcbc57727c2b	We report a case of primary Sj?gren's syndrome complicated by Type III @DISEASE$, a specific type of mesangiocapillary glomerulonephritis never before reported in this setting, and describe a clinical course terminating in rapidly progressive @PHENOTYPICFEATURE$.	has_symptom
+7112cbb4124a72b2d797cd09a843c1323d528b02	@DISEASE$ was observed in a 2-year-old male Japanese domestic cat with clinical @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e86cdfe100980bf01feee544468537dd3eaf5ff4	Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, @PHENOTYPICFEATURE$, and facial anomalies: @DISEASE$.	has_symptom
+9f427c693748ab8c85e1b3bff0d667572bdbce9a	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, microcephaly, internal malformations, speech disorder, and facial anomalies: @DISEASE$.	false
+f89a4b73d9d0921c332b5fe8119c8d5b3df36b20	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, microcephaly, internal malformations, @DISEASE$, and facial anomalies: Mutchinick syndrome.	false
+a7a101db8f8c92a3313e30861bafcfdda303616a	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, microcephaly, internal malformations, speech disorder, and @DISEASE$ anomalies: Mutchinick syndrome.	false
+c1f92524fca7588e5b3aa7f24960082339822314	Three brothers with mental and physical retardation, hydrocephalus, @PHENOTYPICFEATURE$, internal malformations, speech disorder, and facial anomalies: @DISEASE$.	false
+c3dddbc3e9e3bcee95dbd44b24dd50a10441973f	Three brothers with mental and physical retardation, hydrocephalus, @PHENOTYPICFEATURE$, internal malformations, speech disorder, and @DISEASE$ anomalies: Mutchinick syndrome.	false
+0d709784b639daf8dbb0dfd5d5dc4595a081d7e8	Three brothers with mental and physical retardation, hydrocephalus, @PHENOTYPICFEATURE$, internal malformations, @DISEASE$, and facial anomalies: Mutchinick syndrome.	false
+01b86124fdd4d0d32b84ba9ce90c92d232e85fca	@PHENOTYPICFEATURE$ in children and adults with @DISEASE$.	has_symptom
+76fc398d704c68c58f0b9598dbe5c1809d485b98	Cochlear impairment is common in individuals with @DISEASE$ and the main disorders found in the hearing assessment in this population are absence of otoacoustic emissions and acoustic reflexes, as well as presence of mild to moderate @PHENOTYPICFEATURE$, mainly in the high-frequency range, observed by audiometry.	has_symptom
+831d3e3edaafdaf32f388123da67fc51419d040c	Mutations of the LRP2 gene encoding megalin cause @PHENOTYPICFEATURE$ Donnai-Barrow/@DISEASE$ (DB/FOAR), which is characterized by LMW proteinuria.	has_symptom
+da6cee7d58ed276a3ad8eb4640a3c5d282b3b0fb	Comorbidities used in our analysis included ischemic heart diseases, @PHENOTYPICFEATURE$, cerebrovascular disease accident, diabetes, @DISEASE$-cholesterolaemia and hypertension.	has_symptom
+b009e2d991fe190e6f07abd08bfc1fe1733cb41d	Several studies have demonstrated that @DISEASE$-homocysteinemia is an indipendent risk factor for vascular disease and is associated to @PHENOTYPICFEATURE$.	has_symptom
+4f577a4f21f663095b15c589d5148ee95df7049a	Life-threatening hypo- and @DISEASE$-kalaemia were rare in this group of patients with @PHENOTYPICFEATURE$, occurring with approximately equal frequencies of about 2 per 1000 patients treated.	has_symptom
+d0e0e0a4da67c0b2f281c0c3219ca17b1c989f1f	A female patient in her seventies with diabetes mellitus, @DISEASE$-lipidemia and mitral regurgitation was admitted because of the acute @PHENOTYPICFEATURE$.	has_symptom
+897385826c5d5bcff67b2c00feec0ccdc3003f08	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, @PHENOTYPICFEATURE$ and renal dysfunction.	has_symptom
+f5cad8f898d71f6d4eb5a0f4f10b40342bf67c4a	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+da6610db5643a69f7c3f98b91a9fe043533d9ac9	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+08ea8ad5aac53e5190750c5553a9e6c5907d6103	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, intellectual disability, hypotonia, scoliosis, @PHENOTYPICFEATURE$, hypertelorism and renal dysfunction.	false
+288df6101cbf7ee1a522597ad87e82113abf680f	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, @DISEASE$, macrocephaly, hypertelorism and renal dysfunction.	false
+91182bf0cb9fc0a21d16f13f9b31280222f2191e	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, macrocephaly, hypertelorism and renal dysfunction.	false
+deb0109efc83be059e5bfa2a786f6e08ce87e1a0	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, intellectual disability, hypotonia, scoliosis, @PHENOTYPICFEATURE$, @DISEASE$ and renal dysfunction.	false
+c15528919fc6aff9d246d81a3a3d52409b558534	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, scoliosis, macrocephaly, @DISEASE$ and renal dysfunction.	false
+e1ff7295799f281b76df47a8b0887abc286c642a	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, intellectual disability, hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism and renal dysfunction.	false
+e9c60d65924b6a040dbadb9988107e3b94d706be	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, scoliosis, macrocephaly, @DISEASE$ and renal dysfunction.	false
+70db2ef157964565cd750cda5d55551cce833394	Fryns syndrome (FS) is a multiple malformations syndrome with major features of @DISEASE$, @PHENOTYPICFEATURE$, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations.	has_symptom
+1a1f2c14008763ced6e57508cdb2baff1d871ad8	@DISEASE$ (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+ad16e63da910c93c39977e4c3400ef2aaa5bd113	Fryns syndrome (FS) is a multiple malformations syndrome with major features of @DISEASE$, pulmonary hypoplasia, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+4d849168ca58ab40662c314b1db1eb3e14d1c25b	Fryns syndrome (@DISEASE$) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+69d0d5aae3901b90932d4d7fd9f8ff9a8508c9fd	Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, @DISEASE$, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+b355e4132e158741611b57383ff08b3f4151709c	@DISEASE$ (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, vomiting, diarrhoea, @PHENOTYPICFEATURE$, and abdominal distension.	has_symptom
+6c2445bbbbee0292d053fdcb426a4e82648cd9c9	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include @PHENOTYPICFEATURE$, nausea, vomiting, @DISEASE$, weight loss, and abdominal distension.	false
+20a37a4a0338376b9d9e86eba69fed73468cdeb7	@DISEASE$ (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include @PHENOTYPICFEATURE$, nausea, vomiting, diarrhoea, weight loss, and abdominal distension.	false
+a425e69a95a81c37b71b10e9447186e43f8eefe2	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhoea, @DISEASE$, and abdominal distension.	false
+88c4f56772d898f87a35e05121033c7cee624c8f	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include @PHENOTYPICFEATURE$, nausea, vomiting, diarrhoea, @DISEASE$, and abdominal distension.	false
+0fec1b669e19cb22681f3776760602091be38986	@DISEASE$ (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhoea, weight loss, and abdominal distension.	false
+92eab86b2d13e4de2fecc961f08cc5c59cce5d91	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, @PHENOTYPICFEATURE$, @DISEASE$, weight loss, and abdominal distension.	false
+128855ba79e7f97fbe156bb5023dd4a82558766b	Ophthalmological examination showed characteristic whorl-like @PHENOTYPICFEATURE$ and @DISEASE$ was confirmed with low alpha-galactosidase A (alpha-gal A) activity.	has_symptom
+a1cbc82ad021d043a0cfe169ad75894b054aa48f	These seven unrelated patients, ranging in age from 55 to 72 years, did not have angiokeratoma, acroparesthesias, hypohidrosis, or @PHENOTYPICFEATURE$, which are typical manifestations of @DISEASE$.	has_symptom
+1f76b2a26aa7877e8de909a6a1e9d81d67e5ba01	These seven unrelated patients, ranging in age from 55 to 72 years, did not have @DISEASE$, acroparesthesias, @PHENOTYPICFEATURE$, or corneal opacities, which are typical manifestations of Fabry's disease.	false
+ced0317b7a5dfd5cf6ba3e7dd0c8785c28c7c14b	These seven unrelated patients, ranging in age from 55 to 72 years, did not have angiokeratoma, acroparesthesias, @PHENOTYPICFEATURE$, or corneal opacities, which are typical manifestations of @DISEASE$.	false
+4247047e8baa24f8f60d8291538a568586992605	These seven unrelated patients, ranging in age from 55 to 72 years, did not have angiokeratoma, acroparesthesias, @PHENOTYPICFEATURE$, or @DISEASE$, which are typical manifestations of Fabry's disease.	false
+f3dfa036e17b9cb2477afe271c69e98aa2c6b4fc	A thorough physical examination (e.g., angiokeratoma, @PHENOTYPICFEATURE$) and simple non-invasive sensory perception tests could provide clues to the diagnosis of @DISEASE$.	has_symptom
+a82c56d3769f3a6226e524597b7031b36f25d5ad	The coexistence of painful acroparesthesias, angiokeratomas, left ventricular hypertrophy (LVH), @PHENOTYPICFEATURE$ and lenticular lesions suggested the diagnosis of @DISEASE$, which was confirmed by low serum levels of a-galactosidase-A activity.	has_symptom
+f4b7c3b553a2fb82be63b078125fe1dd5c50dcd5	@DISEASE$ is an X-linked disorder characterized in childhood by angiokeratoma, @PHENOTYPICFEATURE$, and pain.	has_symptom
+bfdd33575cbb89bcc980bb3030e4030216d73e57	Symptoms and signs suggestive of @DISEASE$, such as @PHENOTYPICFEATURE$, acroparaesthesias, hypohidrosis, and angiokeratoma, were not noted.	has_symptom
+c235e4370b60e16a39054f033c20a35aa2b87442	Crises of severe pain in the extremities (acroparesthesias), hypohidrosis, @PHENOTYPICFEATURE$ and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in patients with @DISEASE$.	has_symptom
+8b22346c410525d7909a2bb1319036962df52db1	Crises of severe pain in the extremities (acroparesthesias), @PHENOTYPICFEATURE$, corneal opacities and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in patients with @DISEASE$.	false
+e54cc5f8d0175bfadaa8fda534cddc51c7b74c3b	Crises of severe pain in the extremities (acroparesthesias), @PHENOTYPICFEATURE$, @DISEASE$ and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in patients with Anderson-Fabry disease.	false
+36947390dbb268599a982691cf86898ded8c0317	@DISEASE$ is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, hypohidrosis, @PHENOTYPICFEATURE$, and dysfunction of the heart, brain, and kidney are observed.	has_symptom
+678c56a6d1c2a34a04f06f325d5660ac88d88994	Fabry disease is an @DISEASE$ resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, @PHENOTYPICFEATURE$, corneal opacities, and dysfunction of the heart, brain, and kidney are observed.	false
+fa2c5ee46f2d19d0ef01ebb3ed27fec0048813fe	Fabry disease is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, @PHENOTYPICFEATURE$, @DISEASE$, and dysfunction of the heart, brain, and kidney are observed.	false
+975af8273ddcba5898aff76c70645b064bffab22	@DISEASE$ is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, @PHENOTYPICFEATURE$, corneal opacities, and dysfunction of the heart, brain, and kidney are observed.	false
+227d78c1738263f3dad8374d35814dda634bfff0	@DISEASE$ caused by autosomal recessive mutations in the PNP gene leads to severe combined immunodeficiency (SCID) and in two thirds of cases also to neurological effects such as developmental delay, @PHENOTYPICFEATURE$, and motor impairment.PNP deficiency has a poor outcome, and the only curative treatment is allogenic hematopoietic stem cell transplantation (HSCT).	has_symptom
+12acf6e64b05fdd691e217d6bb69d73a65929202	PNP deficiency caused by autosomal recessive mutations in the PNP gene leads to severe combined immunodeficiency (SCID) and in two thirds of cases also to neurological effects such as developmental delay, @PHENOTYPICFEATURE$, and motor impairment.@DISEASE$ has a poor outcome, and the only curative treatment is allogenic hematopoietic stem cell transplantation (HSCT).	has_symptom
+ec7a1d8a01b1f8703660f3d453897f28f031caeb	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including @PHENOTYPICFEATURE$, developmental delay and spasticity.	has_symptom
+906ccfe9e36ba939976fdb6d7a48346c41cd106d	PNP deficiency is an autosomal recessive metabolic disorder characterized by @DISEASE$ and by complex neurological symptomatology including ataxia, developmental delay and @PHENOTYPICFEATURE$.	false
+ccc78475a23188d82067206768609a12276a9018	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including @DISEASE$, developmental delay and @PHENOTYPICFEATURE$.	false
+109e0d4e67bb84a1ae222288889f559fb1230be5	PNP deficiency is an autosomal recessive @DISEASE$ characterized by severe combined immunodeficiency and by complex neurological symptomatology including ataxia, developmental delay and @PHENOTYPICFEATURE$.	false
+61d8660370c38c04befc3ac1c6bbd925874bafb0	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including ataxia, developmental delay and @PHENOTYPICFEATURE$.	false
+0dba06b611b117b2672a15adefd3690453e7b014	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and spasticity.	has_symptom
+dd4bf5348e6e8656728b330f22ed2d2ff95da9e5	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+32310ecd76a3cc5c32ce097275a038ae90b6bebf	PNP deficiency is an autosomal recessive metabolic disorder characterized by @DISEASE$, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and @PHENOTYPICFEATURE$.	false
+2573f5774b871ae5cdd459e90cd5e9ce5f7f1fc8	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and @PHENOTYPICFEATURE$.	false
+7d1cb411faff7a6d0f7a953643ce0ee6f6a87982	PNP deficiency is an autosomal recessive @DISEASE$ characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and @PHENOTYPICFEATURE$.	false
+b50064c89bff3ab2033db354f8d847c8787180ea	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, @DISEASE$, and by a complex of neurologic manifestations including ataxia, developmental delay, and @PHENOTYPICFEATURE$.	false
+53b14f7dc7cf04989ece209f1e8d7f8bbd4131d8	Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar proteinosis commonly seen in ADA-deficient infants, while toxicity of purine metabolites to cerebellar Purkinje cells may lead to the @PHENOTYPICFEATURE$ frequently observed in @DISEASE$.	has_symptom
+91d7783f6c14789ef03a82a03ad542a869b3d8a3	We report a 21-year-old white male with @DISEASE$ (gonadotropic hypogonadism, hyposmia and @PHENOTYPICFEATURE$) with extensive brain calcification, demonstrated for the first time by computed tomography.	has_symptom
+eedfdad96929f2ae10d3ffad51ca11074b26cba4	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: short stature, hypertelorism, bilateral @PHENOTYPICFEATURE$, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	has_symptom
+a13dd977aad9741aed1f10736b37c4074990938f	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, @PHENOTYPICFEATURE$, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+608609a71919ed483b41efe1fc0f577f271d17b8	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: @PHENOTYPICFEATURE$, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched @DISEASE$, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+e56109b295cf2a76520dcd44ee41ee3611cb2311	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, @PHENOTYPICFEATURE$, low-set ears with prominent auricles, high-arched @DISEASE$, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+b648976ab4471adaa58b0c74844e767682a42c16	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, @PHENOTYPICFEATURE$, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched @DISEASE$, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+0b8581435e3385f95938ea3d1e533cd9c1e8e6b2	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, @PHENOTYPICFEATURE$, bilateral @DISEASE$, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+e6704702f647f573abde50b2537374159df65381	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: @PHENOTYPICFEATURE$, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+b05d29d80879abd9f20d4a936ed96c10169bfc18	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral @DISEASE$, @PHENOTYPICFEATURE$, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+bb7ae4f764e718d86568fb1d04c67b54d06ee0d5	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: short stature, @PHENOTYPICFEATURE$, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+fba63e639666e6bf7f253065c2e26d928cb0dff1	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: @PHENOTYPICFEATURE$, hypertelorism, bilateral @DISEASE$, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+516405b464b9b992f5d5601d584f05c2daba252b	Reports describing abnormal eye features in individuals with @DISEASE$ generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, @PHENOTYPICFEATURE$, and ptosis.	has_symptom
+c9d4f2495e1fe7e78b360e317d1322095703a15d	Reports describing abnormal eye features in individuals with @DISEASE$ generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and @PHENOTYPICFEATURE$.	false
+c75df393a309c494bcc8e0920dadfc872a26fed0	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (@DISEASE$ or hyperopia), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+55c1bad29e5d0dfbc776484a8840e42edd1dce6f	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior @DISEASE$ abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+ecfa47f349acfc4b6661048968b3abcd9ea688e7	Reports describing abnormal eye features in individuals with @DISEASE$ generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+8a7c8f43616c08f5e6d292d4e6a9e17d8a6000b4	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (@DISEASE$ or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and @PHENOTYPICFEATURE$.	false
+277dc432aaa1c0ad946cc5fc88b9d1dc89d886a9	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, @DISEASE$, and ptosis.	false
+9947687403e88ab9f9786cbd74b12c275ab3b145	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or @DISEASE$), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and @PHENOTYPICFEATURE$.	false
+afc12ed0d3f72050da104614a41e479779fc155a	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or @DISEASE$), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+0d7a2b50c70d8c27d285db35296c8947276be378	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior @DISEASE$ abnormalities including hypertelorism, epicanthal folds, and @PHENOTYPICFEATURE$.	false
+1722e96ad3018b061fbe1f3c3744a0696694612d	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4acff15ca4c6817f347df6b164411d597e16f016	In contrast, other known causes of POF, such as blepharophimosis ptosis @PHENOTYPICFEATURE$ and inversus and autosomal recessive @DISEASE$, had no altered sex ratio.	has_symptom
+e906ce9746bc7659596ea09e287127b559418e63	In contrast, other known causes of POF, such as blepharophimosis @PHENOTYPICFEATURE$ @DISEASE$ and inversus and autosomal recessive gonadal dysgenesis, had no altered sex ratio.	false
+3d88e8882cdc9b85d700b7ded1c71f222992afe5	In contrast, other known causes of POF, such as blepharophimosis @PHENOTYPICFEATURE$ epicanthus and inversus and autosomal recessive @DISEASE$, had no altered sex ratio.	false
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+bf5f1bd086ee3a7afc65cc563874ba7ede86b9c7	@DISEASE$ presenting as @PHENOTYPICFEATURE$ in an adult.	has_symptom
+f9b416f937b5e499666b367c3d855e080800dac1	@DISEASE$ (LQT) is an inherited cardiac disorder that causes syncope, @PHENOTYPICFEATURE$ and sudden death from ventricular tachyarrhythmias.	has_symptom
+4defc9435492ff9702746a66e1c68a46ec18f9f0	Long QT syndrome (@DISEASE$) is an inherited cardiac disorder that causes syncope, @PHENOTYPICFEATURE$ and sudden death from ventricular tachyarrhythmias.	has_symptom
+c077c649f2849a55c5f8a15f6a9e1a4bf7f28e88	[Familial epilepsy @PHENOTYPICFEATURE$ disclosing @DISEASE$].	has_symptom
+b7dfe0c143aae01cf313b1d8274b73a7dfa3c8c5	The @DISEASE$ and @PHENOTYPICFEATURE$ in childhood.	has_symptom
+f2d3e4ddc9143ce08f765c6c023fe3cdd2a741d0	Clinical profile of pediatric patients with @DISEASE$ masquerading as @PHENOTYPICFEATURE$.	has_symptom
+3b781acab567e6c2020b2da331eabf0c04b75da0	@DISEASE$ presenting as a @PHENOTYPICFEATURE$.	has_symptom
+5c59754e1915b3209bb15993b2e52ef5cfeb08da	An important differential diagnosis of @PHENOTYPICFEATURE$ in childhood is the @DISEASE$.	has_symptom
+fee6c5b19236589062ff8f18292a535d39f2b9e7	@PHENOTYPICFEATURE$-like episodes and EEG abnormalities in patients with @DISEASE$.	has_symptom
+9ba03557d483c6b885fbda1a8d8d012133148ffa	@DISEASE$ (LQT) is an inherited cardiac disorder that results in syncope, @PHENOTYPICFEATURE$, and sudden death.	has_symptom
+66e130b11a767fce849fbe2f5cc8515f3468c4f3	Long QT syndrome (@DISEASE$) is an inherited cardiac disorder that results in syncope, @PHENOTYPICFEATURE$, and sudden death.	has_symptom
+61d8660370c38c04befc3ac1c6bbd925874bafb0	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including ataxia, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+a3e81b08751774152d370dbf55541f86eb24c21f	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including @PHENOTYPICFEATURE$, developmental delay and @DISEASE$.	false
+ec7a1d8a01b1f8703660f3d453897f28f031caeb	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including @PHENOTYPICFEATURE$, developmental delay and spasticity.	false
+02a600a9ce1ea620fa7cadddab7239dc307e2119	PNP deficiency is an autosomal recessive metabolic disorder characterized by @DISEASE$ and by complex neurological symptomatology including @PHENOTYPICFEATURE$, developmental delay and spasticity.	false
+f731cd4008937da16e71e8fe9b9061ebe07a3c5b	PNP deficiency is an autosomal recessive @DISEASE$ characterized by severe combined immunodeficiency and by complex neurological symptomatology including @PHENOTYPICFEATURE$, developmental delay and spasticity.	false
+2573f5774b871ae5cdd459e90cd5e9ce5f7f1fc8	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+dd49eff546588b2fe601cba9e211a0fc33cd6086	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, @DISEASE$, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and spasticity.	false
+0dba06b611b117b2672a15adefd3690453e7b014	@DISEASE$ is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and spasticity.	false
+6b5aef2811b69868f851a67f5375e9f6ec4610e5	PNP deficiency is an autosomal recessive @DISEASE$ characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and spasticity.	false
+f55e10646b090270fbbbcb339de472594dc3c931	PNP deficiency is an autosomal recessive metabolic disorder characterized by @DISEASE$, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and spasticity.	false
+950bd0810e0ab5cb381c997d091d8fa970b6fd7a	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+2020eac706ec20349fcd84406a9ad7392f12b421	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (@DISEASE$), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, @PHENOTYPICFEATURE$ and follicular atrophoderma.	has_symptom
+7308d8c90ac0c734c1c4abd01fa3d14a0341c8b6	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with @DISEASE$ (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, @PHENOTYPICFEATURE$ and follicular atrophoderma.	has_symptom
+b265af9e869578af0a44eaa676a9db50f95e1b4a	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to @DISEASE$ and @PHENOTYPICFEATURE$, hypohidrosis and follicular atrophoderma.	false
+e78006fe6fb14fe761c92453ef296e65750a85a2	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (@DISEASE$), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and @PHENOTYPICFEATURE$, hypohidrosis and follicular atrophoderma.	false
+0473dc8c6bc642e210e2e464667c62d81b6f24f3	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with @DISEASE$ (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and @PHENOTYPICFEATURE$, hypohidrosis and follicular atrophoderma.	false
+c95a42cb23668e3f4df160cc8e7369b25693b45e	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and @PHENOTYPICFEATURE$, @DISEASE$ and follicular atrophoderma.	false
+75cb2eb704c16a2edf09fe243e75d1f81423cece	@DISEASE$ with congenital hepatic fibrosis: A rare cause of neonatal @PHENOTYPICFEATURE$.	has_symptom
+c547913534302e16c29211fbd32585d0c120d590	@DISEASE$ (MPS IIID), is characterized by moderate physical abnormalities, @PHENOTYPICFEATURE$, and deficient activity of N-acetylglucosamine 6-sulfate sulfatase, a lysosomal hydrolase involved in the degradation of heparin, keratan sulfate, and heparan sulfate.	has_symptom
+31f0ef2c0f27daa9431de562d095d6c073879386	Patients with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and hindbrain posterior fossa crowding.	has_symptom
+396398ea6cc44a74b11079bf48ff51808300c406	Although @DISEASE$ has been associated with @PHENOTYPICFEATURE$, it has not been linked to hindbrain abnormalities.	has_symptom
+39b15949b5088a58dd11f6d70b8da0316c71e021	The authors present an unusual case of a patient with @DISEASE$ associated with extensive calcification of the dura mater covering the brain as well as obstructive @PHENOTYPICFEATURE$.	has_symptom
+a00e858858fe6e1a3b39bd79c79e922424fe7dd5	@DISEASE$ as an unusual cause of @PHENOTYPICFEATURE$, extensive calcification of tentorium cerebelli, and calvarial hyperostosis.	has_symptom
+21cb8f5702f1c6f1cdac392b43c104f2c7d798f0	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, skeletal dysplasia, immunological abnormalities, @PHENOTYPICFEATURE$, and normal motor and cognitive development resembling @DISEASE$.	has_symptom
+ad50e7b6656f6b4908c9a004e3bc1738b13c4e81	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with @PHENOTYPICFEATURE$, skeletal dysplasia, immunological abnormalities, @DISEASE$, and normal motor and cognitive development resembling SOPH syndrome.	false
+4117bda7ebed90c97a6a36ae61b0c0e433be28c0	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with @PHENOTYPICFEATURE$, skeletal dysplasia, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling @DISEASE$.	false
+ac8e0c3cca355e5470926ff5205ec049a6273ec9	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, @PHENOTYPICFEATURE$, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling @DISEASE$.	false
+695b0f236062c61d8da6261c10ab16241c2bd2e8	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, @PHENOTYPICFEATURE$, immunological abnormalities, @DISEASE$, and normal motor and cognitive development resembling SOPH syndrome.	false
+d21136a4986460a0bd8e413526894b890ea49f7e	We present the case of a 4-year-old girl with the cardinal features of @DISEASE$: characteristic facial dysmorphism, postnatal growth retardation, delay of bone age, slender long bones, @PHENOTYPICFEATURE$, and Pelger-Hu?t anomaly.	has_symptom
+8a086396766ae48e781ace4b1e51ba1614531656	We present the case of a 4-year-old girl with the cardinal features of SOPH syndrome: characteristic @PHENOTYPICFEATURE$, postnatal growth retardation, delay of bone age, slender long bones, @DISEASE$, and Pelger-Hu?t anomaly.	false
+17fbe6e0b79d3ccdaad15160558d70fce42e3f1a	We present the case of a 4-year-old girl with the cardinal features of @DISEASE$: characteristic @PHENOTYPICFEATURE$, postnatal growth retardation, delay of bone age, slender long bones, optic atrophy, and Pelger-Hu?t anomaly.	false
+313007862650646950fb97494be6e0a6eded1d89	@DISEASE$ (Short stature with @PHENOTYPICFEATURE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	has_symptom
+d44d052e43b757bcd4a3f97c0a64aafebd217d96	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @PHENOTYPICFEATURE$, and Pelger?Hu?t anomaly of neutrophils.	has_symptom
+f4ba24935d464f18bdfb7e8fb1951d941bdaccd0	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, @DISEASE$, and Pelger?Hu?t anomaly of neutrophils.	false
+022daf4d4e8ec5cbe9476f2901de793b33512253	SOPH syndrome (@PHENOTYPICFEATURE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @DISEASE$, and Pelger?Hu?t anomaly of neutrophils.	false
+cec76dd4e6006e414127c180f5771819a8faf391	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+3a4a8d0525dd88456530aef96e5be9b1112c8e4a	SOPH syndrome (Short stature with @DISEASE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+279ebecb8e33cd91cb94e6160557e3df188c8d14	SOPH syndrome (@PHENOTYPICFEATURE$ with Optic nerve atrophy and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+b8b15d6d3e541b2e0d1a4507aee532f83331aa3f	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+225ba4af2e141bdb8fd34948eeecac0a1d703ae4	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+6f3cea81068c4b2b5a223e0ceaec1ed328c199d2	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly @DISEASE$, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+24d399bdf8ef664449fc64667bfa32d66f1c94d1	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+53d6a3eb98860c1a463336cc86814bd8edadae7a	SOPH syndrome (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, @DISEASE$, and Pelger?Hu?t anomaly of neutrophils.	false
+9312dcaba5add8b563f138ed1da94f32ea4cc018	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+76cbb7d1da924921bd94bfbe7dfc3b976fab1824	@DISEASE$ (@PHENOTYPICFEATURE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+2d79abdbd14567bd27533021b6ba10ed68f29e2e	SOPH syndrome (Short stature with @DISEASE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+0970afd4e55637d095dbb7010ba5b03683f2b013	SOPH syndrome (@PHENOTYPICFEATURE$ with @DISEASE$ and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+c4ba9acc46b63a80c49c5978d398538220fce61a	SOPH syndrome (@PHENOTYPICFEATURE$ with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an @DISEASE$ characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+d60f95b6cb32f9a13f229da7daced250b980717a	Homozygous missense NBAS variants cause @DISEASE$ (short stature; @PHENOTYPICFEATURE$; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	has_symptom
+c412bccb27efea47c0eca932129a2673b2b74ee7	Homozygous missense NBAS variants cause @DISEASE$ (@PHENOTYPICFEATURE$; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+b8c3f76237e06a6351814a287a72f1b3c8d1647f	Homozygous missense NBAS variants cause SOPH syndrome (@PHENOTYPICFEATURE$; @DISEASE$; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+72a1aeae0890e617bf625a270b4154dfee3c52a7	Homozygous missense NBAS variants cause SOPH syndrome (@PHENOTYPICFEATURE$; optic atrophy; @DISEASE$), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+58fac065df9c5d1333b5f16096a23dbe6cf537e3	@PHENOTYPICFEATURE$ is frequent and sometimes disabling in SCA3/@DISEASE$.	has_symptom
+1a52b4269b4b8d99e9be6380c51374fb195978fc	@DISEASE$ is a neurodegenerative lysosomal storage disorder characterized by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+2e788418ad05d1321e411eeb186617ada0a99dac	@DISEASE$ (MPS IIIA) is an inherited neurodegenerative lysosomal storage disorder characterised by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+57873e0d9bf9e148f39fb965cf77db8ea1ec9b67	The lacrimo-auriculo-dento-digital syndrome, also known as @DISEASE$, is a rare multiple congenital dysplasia characterized by malformation of the lacrimal apparatus and by aural, dental, and @PHENOTYPICFEATURE$.	has_symptom
+2b1211e68971f0f5243304f0e364ac7fa573d171	Previous literature on the subject has been reviewed and this case is the first presentation of @DISEASE$ in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and @PHENOTYPICFEATURE$.	has_symptom
+b9d7f76d6bd380159531ea2fa0959535722b9043	The rare syndrome of @DISEASE$ (POMA) is described as a specific type of idiopathic generalized epilepsy in which @PHENOTYPICFEATURE$ are accompanied by prominent perioral myoclonus as a consistent symptom.	has_symptom
+45941447121d9a06921eeeff137f361695211ac5	@DISEASE$ (POMA) was first described in 1994 by CP Panayotopoulos who identified 6 cases that did not fit with the classical syndrome of absence epilepsy in children and whose predominant symptom during the @PHENOTYPICFEATURE$ was the occurrence of myoclonia of perioral muscles.	has_symptom
+e2d86df912f7f8631036ecb30dced7667b5be854	@DISEASE$, which was first reported in 1982, is characterized by holoprosencephaly, phocomelia, clefting, @PHENOTYPICFEATURE$, and other anomalies.	has_symptom
+20d20fa4320cdb470db2721b93f723e97733be44	The pediatric neurosurgeon is frequently required to treat children with achondroplasia who have @PHENOTYPICFEATURE$, cervicomedullary compression (@DISEASE$), and spinal canal stenosis.	has_symptom
+f54f401bf1c9f255c4e819e40c7d9f681804dccc	These patients differ from the Japanese (Fukuyama) cases of @DISEASE$ in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+663aa7d5cfa8b789596791af5d5e4833c21e06e0	A diagnosis of @DISEASE$, caused by tuberculosis of the adrenals, has been proposed, but this is unlikely, since it does not fit well with two and a half months of severe anorexia, @PHENOTYPICFEATURE$, followed by remission of these symptoms and eventual death.	has_symptom
+0bce9a9c6cd0f4348e91d662c48d16f50db2c56d	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, @PHENOTYPICFEATURE$, autonomic disorders, and cognitive impairment.	has_symptom
+95b6a3c0018183e3edbd9e8f85eaafb6c14bc449	Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves @PHENOTYPICFEATURE$, action tremor, Parkinsonism, @DISEASE$, autonomic disorders, and cognitive impairment.	false
+72c66237c7720362281ec43feb4bb7cc050de23c	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves @PHENOTYPICFEATURE$, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and cognitive impairment.	false
+2c7d20724f5274e367f20bc5411dec431c9e1dac	Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, @DISEASE$, autonomic disorders, and @PHENOTYPICFEATURE$.	false
+d8b78ef5523a25531210adb2912c70de540d715c	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and @PHENOTYPICFEATURE$.	false
+1e0118e00192ad2a11e85dc299864af86bf1ec54	@DISEASE$ (FXTAS) is an adult-onset neurodegenerative disorder clinically characterized by intention tremor and gait ataxia, in addition to other conditions including hypothyroidism, autonomic dysfunction, hypertension, @PHENOTYPICFEATURE$, and cognitive decline.	has_symptom
+e264c368fca3caaff49acbfea43494023b2caaa5	Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder clinically characterized by intention tremor and @PHENOTYPICFEATURE$, in addition to other conditions including hypothyroidism, autonomic dysfunction, hypertension, @DISEASE$, and cognitive decline.	false
+bd3b759176d786e242f995c7cc75438dfe6c21ed	@DISEASE$ (FXTAS) is an adult-onset neurodegenerative disorder clinically characterized by intention tremor and @PHENOTYPICFEATURE$, in addition to other conditions including hypothyroidism, autonomic dysfunction, hypertension, peripheral neuropathy, and cognitive decline.	false
+1045ff0750c532675d22328c8763f9aa603022cf	Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder clinically characterized by intention tremor and @PHENOTYPICFEATURE$, in addition to other conditions including @DISEASE$, autonomic dysfunction, hypertension, peripheral neuropathy, and cognitive decline.	false
+5de683ff72b6de2a8a1236724f5134a3f1fb2dea	@DISEASE$ (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and gait ataxia, but with a growing list of co-morbid medical conditions including hypothyroidism, hypertension, @PHENOTYPICFEATURE$, and cognitive decline.	has_symptom
+73490f4d26ae30a6fbf7649bbb9b2bf6e1d2c50a	Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and @PHENOTYPICFEATURE$, but with a growing list of co-morbid medical conditions including hypothyroidism, hypertension, @DISEASE$, and cognitive decline.	false
+2c9787fa5c8443dbc9f3a27c5e57fd6bffc85127	Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and @PHENOTYPICFEATURE$, but with a growing list of co-morbid medical conditions including @DISEASE$, hypertension, peripheral neuropathy, and cognitive decline.	false
+e91513ca7a49fd10e4a41d156e61cc363984e735	@DISEASE$ (FXTAS) is an adult-onset neurodegenerative disorder generally presenting with intention tremor and @PHENOTYPICFEATURE$, but with a growing list of co-morbid medical conditions including hypothyroidism, hypertension, peripheral neuropathy, and cognitive decline.	false
+4f5251020b54ba321656ba8a0b08811a9d9faf4e	In this study we examined whether females with the @DISEASE$ (FXTAS) and non-FXTAS premutation carriers have electrophysiological signs of underlying @PHENOTYPICFEATURE$.	has_symptom
+f25f6ec89b4efda4748f9dc87fb17542a2741328	@PHENOTYPICFEATURE$ is common among patients with @DISEASE$ (FXTAS).	has_symptom
+6cddd1fe869e1ecbb12d1b5454ec3b22770e5109	This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar ataxia (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal @PHENOTYPICFEATURE$ (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant @DISEASE$ (CTRP5).	has_symptom
+75a65218d06b3dccd8182d872610920527c3a02a	This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar @PHENOTYPICFEATURE$ (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap @DISEASE$ (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5).	false
+a4493ea9003479956fba9f0b0dcd1e2e4dcf645d	This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar @PHENOTYPICFEATURE$ (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant @DISEASE$ (CTRP5).	false
+2d58b2c086cc8537f4d3b1a59e7acce30f9cb43b	This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar @PHENOTYPICFEATURE$ (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with @DISEASE$ overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5).	false
+53c2ca032a1cccf904b7c893d540e96ff74b20e6	This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar @PHENOTYPICFEATURE$ (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal @DISEASE$ (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5).	false
+9b80e8b88c1d850a6ade842702c740acd539e58c	This paper reviews the published histopathologic findings of patients with @DISEASE$ (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar @PHENOTYPICFEATURE$ (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5).	false
+1e79059f9d2ea4ee98e17385722efc35567fb7b5	A 74-year-old woman with lower @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$ by endoscopic mucosal resection (EMR).	has_symptom
+a3da78afbf6393975b01af53d4e677874cc1c67f	IPSID is a variant of the B-cell @DISEASE$ (MALT), which involves mainly the proximal small intestine resulting in malabsorption, diarrhea, and @PHENOTYPICFEATURE$.	has_symptom
+fed1d93c654dc6db55cf2b22b4bc0e3cd73f71cd	Affected lymph nodes, skin and @PHENOTYPICFEATURE$ were the most common in @DISEASE$ patients with extrapulmonary involvement.	has_symptom
+692dc60ef469d5431e4f4486f8db0edbc930cc74	Renal impairment in @DISEASE$ is rare and occurs usually as a result of long standing hypercalcemia or @PHENOTYPICFEATURE$ with nephrocalcinosis or renal stones.	has_symptom
+c7ec9089a7282a4cf00a368f15224d4df3a3d257	Renal impairment in sarcoidosis is rare and occurs usually as a result of long standing @PHENOTYPICFEATURE$ or @DISEASE$ with nephrocalcinosis or renal stones.	false
+09654b742cae068b293a6dd7853853420bacef63	Renal impairment in sarcoidosis is rare and occurs usually as a result of long standing @PHENOTYPICFEATURE$ or hypercalciuria with @DISEASE$ or renal stones.	false
+1c25a0e713054b346ac86b9a6263b7c409a137a8	Renal impairment in @DISEASE$ is rare and occurs usually as a result of long standing @PHENOTYPICFEATURE$ or hypercalciuria with nephrocalcinosis or renal stones.	false
+e2ef7db731fd1879de032bf712b05d99213c3ced	@DISEASE$ is also characterized by distinctive laboratory abnormalities, including hyperglobulinemia, an elevated serum angiotensin converting enzyme level, evidence of depressed cellular immunity manifested by cutaneous anergy and, occasionally, hypercalcemia and @PHENOTYPICFEATURE$.	has_symptom
+2bf7279f370c2426d03a23d01f1293521ce13f57	Sarcoidosis is also characterized by distinctive laboratory abnormalities, including hyperglobulinemia, an elevated serum angiotensin converting enzyme level, evidence of depressed cellular immunity manifested by cutaneous anergy and, occasionally, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e7bbf12a3b1a092956e9c1eeb922d73be01ff6ff	@DISEASE$ is also characterized by distinctive laboratory abnormalities, including hyperglobulinemia, an elevated serum angiotensin converting enzyme level, evidence of depressed cellular immunity manifested by cutaneous anergy and, occasionally, @PHENOTYPICFEATURE$ and hypercalciuria.	false
+c68dcc973b621ac2cccbb2264b45360f243df71c	@DISEASE$ (PKS) is a multiple malformation syndrome caused by a chromosomal abnormality in which the presence of four copies of the short arm of chromosome 12 results in @PHENOTYPICFEATURE$.	has_symptom
+8cd3b6b327da9053f251a2548b0400610dc7fce7	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, @PHENOTYPICFEATURE$, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	has_symptom
+dfff7c5fbfddfdc676fa359161e495e1dd3183e4	Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, @PHENOTYPICFEATURE$, @DISEASE$, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+159e6775afece1a075ec376044cb23ab48b73091	Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, @PHENOTYPICFEATURE$, seizures, @DISEASE$, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+cae2e1c516c2dd801ca4f60df2e6431bfe3f3aa3	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, @PHENOTYPICFEATURE$, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+2618aad9f5798dd6fa9c39b2194f5991f6875bae	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, @PHENOTYPICFEATURE$, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+3eaf4d4a8290fa9e86a7355015ee12219cd703f4	Pallister-Killian syndrome is a rare disorder characterized by multiple @DISEASE$, coarse face, pigmentary skin changes, @PHENOTYPICFEATURE$, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+4278a94866eeeee1d7b55add22e93141f9af0184	Pallister-Killian syndrome is a rare disorder characterized by multiple @DISEASE$, coarse face, @PHENOTYPICFEATURE$, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+4ed69cab8a585745ed5cf25025b6806471884e43	@DISEASE$ due to aqueductal stenosis of probable @PHENOTYPICFEATURE$.	has_symptom
+89c503c51f7c35ab9113609587e341e1382877df	Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an @PHENOTYPICFEATURE$ @DISEASE$ characterized by craniofacial and mild limb abnormalities.	has_symptom
+9fc9e44ec988c45df94f924f7342ec616018b570	Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an @DISEASE$ craniosynostosis syndrome characterized by craniofacial and mild @PHENOTYPICFEATURE$.	false
+243d4cf693d235bbffd2b664b371e961f5207318	Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant @DISEASE$ characterized by craniofacial and mild @PHENOTYPICFEATURE$.	false
+994e61947ccfa53effd437a759fdbe7472c358d2	@DISEASE$ (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild @PHENOTYPICFEATURE$.	false
+7d21bf430e09c325f4dc15b73f8d184a25eece7e	Humor in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+db6294b23d5392ff7cb74b5048d6f498c508cd51	Iron deficiency in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+adbfb56aa854423a70eec8b52a08d9bfcede67fa	@PHENOTYPICFEATURE$ and @DISEASE$: coexistence with other clinical disorders.	has_symptom
+58b76f78ce69582b29007c748194036a076a6515	Creativity and imagination in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+4659c1caed5d7194c611b41a7d143c8ba0880374	@DISEASE$ is different from @PHENOTYPICFEATURE$, with a lack of delayed language as the most distinct difference between Asperger syndrome and autism.	has_symptom
+043db7fde139e0f0dfd8f6c919b025b0d38b5dcf	@DISEASE$ is different from autism, with a lack of delayed language as the most distinct difference between Asperger syndrome and @PHENOTYPICFEATURE$.	has_symptom
+8a8dccf66cde346228ce743f2a009d82a8c8bffd	Asperger syndrome is different from @PHENOTYPICFEATURE$, with a lack of delayed language as the most distinct difference between @DISEASE$ and autism.	has_symptom
+b75a07336c20b1fe6c4dcdaadd088bfae8014747	Asperger syndrome is different from autism, with a lack of delayed language as the most distinct difference between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0d16a80a9f89882e001f042b78cebed0e0185fed	Outcome research in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+8a1d3d92eadca325a718c3abdabe26168aceecc1	Reports of multiple incidence of Asperger syndrome have suggested links between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1497aff92602f6d246ba5a10b80fa5a4a9aad5d5	Reports of multiple incidence of @DISEASE$ have suggested links between Asperger syndrome and @PHENOTYPICFEATURE$.	has_symptom
+9169fb1eb7f17af769e7aa70110462d3ccfd152c	Risk factors for @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+138983c6773c8b1f733c38cc916a123e70778f70	Can @DISEASE$ be distinguished from @PHENOTYPICFEATURE$?	has_symptom
+08f9ac75d5278fe649b6220ff06e67bae0631538	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	has_symptom
+0e285bd15c75c3d6ae12db1f336e6f0d4271529c	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or @DISEASE$, cardiac evaluation should be pursued.	false
+9361aa97522e2b3a66c764d4aaa0760c00d0f618	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, @DISEASE$, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+94b7e772d5af71510130bc310be5a01983446ea7	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, @DISEASE$, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+6b4008e927ed258759be8807a963507356f654a5	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, @DISEASE$, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+82a58a8c6d7e615f286acd82353f6456e406e3bf	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+9f51e826778a3c9a8b9f188c9c7680a72fbbfe9f	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, @DISEASE$, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+ee7c316fe757e9a586aa8f5a6fd7efb936bcf2c6	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or @DISEASE$, cardiac evaluation should be pursued.	false
+789f9179802c1f51f42e1d9f2a35fe68445526c5	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+d338c0b40aaead0e0645c3b54fefbcb63eb322dc	Patients with @DISEASE$ (NF2) develop bilateral cochleovestibular schwannomas (CVSs) that cause binaural @PHENOTYPICFEATURE$ in most individuals.	has_symptom
+bdca2de8671f0b7a089a3ea6a6ec748562473f3f	Auditory brainstem implants (ABIs) are auditory prostheses initially designed to treat @PHENOTYPICFEATURE$ in patients with @DISEASE$ (NF2).	has_symptom
+fd5aea9967cc10f749f1e71a698f0c92a6b647a0	@PHENOTYPICFEATURE$, dysphagia and a middle ear mass in a patient with @DISEASE$.	has_symptom
+539be3c2f3458788bae4b50ce48848e42bfdd126	Deafness, @PHENOTYPICFEATURE$ and a middle ear mass in a patient with @DISEASE$.	false
+c975305094bf6dfba3c33a91a6ef61a43acac116	@DISEASE$, @PHENOTYPICFEATURE$ and a middle ear mass in a patient with neurofibromatosis type 2.	false
+03de277141324745e00f035ee59a610fd7ecd7d7	Six patients were @PHENOTYPICFEATURE$ after previous acoustic neuroma surgery without recurrence, three had diagnoses other than @DISEASE$ (NF2).	has_symptom
+9a5641338be29e817203e1c6548209a9d596a8f9	Patients with acoustic neuromas associated with @DISEASE$ (NF2) represent a special challenge because of the risk of complete @PHENOTYPICFEATURE$.	has_symptom
+152756fb533b453558b105871681aabac3d1ba75	All of them were profoundly @PHENOTYPICFEATURE$ on both sides due to @DISEASE$ (NF2).	has_symptom
+b79c4aafe59d6c8cbf26982a0b703308216c3f56	In the adult patients, four had @DISEASE$, and one had postmeningitic @PHENOTYPICFEATURE$ with complete ossification of both cochleae.	has_symptom
+073a161f380e5ea8d76e9156919390767d6b5f33	Neurofibromatosis 2 (bilateral acoustic or @DISEASE$), a treatable cause of @PHENOTYPICFEATURE$.	has_symptom
+6fed753dc89e441e511119955ce1186b54e59495	Full recovery from @PHENOTYPICFEATURE$ after removal of a large acoustic neurinoma associated with @DISEASE$: case report.	has_symptom
+e85a9d4533601e22e72fb7e50992d37a2577362d	Topodiagnosis of @PHENOTYPICFEATURE$: strategy for treatment of @DISEASE$.	has_symptom
+6b4a2755a4b17b5984799a2788e76adf123c6402	@DISEASE$: a microduplication syndrome associated with oropharyngeal dysphagia and @PHENOTYPICFEATURE$.	has_symptom
+ea018a8cbdc34f7244d1e6e5cc16dd73d4a0af00	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @PHENOTYPICFEATURE$, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	has_symptom
+e36fadbd313026ba8d6250e87e358ebb4ab03192	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @DISEASE$, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+9d24bc53f7a2ec27b2b86ca955cd594b9d72d525	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, @PHENOTYPICFEATURE$, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include @DISEASE$.	false
+1d60360fa830bfbaf39b61702c7efc24cf55383b	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication @DISEASE$ characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+c01d94a20fdd87b53653e6bd93161f7e86e267d8	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include @DISEASE$.	false
+3e962b84cc6505e6e6af2d9b51eb350f920e91a2	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+f1277c1f3bf4be9b7f26347bef54ce745049cfff	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, @PHENOTYPICFEATURE$, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+53cc98725eaa663b3278dee9f8d9b2b9c0b9f047	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication @DISEASE$ characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+5e68aa54a27e927d21dab40e639daff6db49514e	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication @DISEASE$ characterized by infantile hypotonia, failure to thrive, @PHENOTYPICFEATURE$, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+db92a5239b163f166d5b2b2d0af7ba01704d49da	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @DISEASE$, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+36aa38902bb2392830e1864d69a019f06eafee45	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include @DISEASE$.	false
+05df4eb3aa2ba858c8796f82435267555606e24a	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+17e116d865b62a4f48a6f8f3be8cb21cf7a746d3	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+fec41f8c83514fff543d47afe0161658b1cd684d	Duplication of 17p11.2, also known as @DISEASE$ (PTLS), is a well-described microduplication syndrome featuring cognitive and language deficits, developmental delay, autistic behavior, structural cardiovascular anomalies, hypotonia, @PHENOTYPICFEATURE$, apnea, and dysmorphism.	has_symptom
+ac632f7c372dfb0097ebcad103c74ffc67dc6d06	We have reported a case of normeperidine-induced @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+e549623e5793350dfdbd39dd1d38cb08816676ba	Normeperidine-induced @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+ada2c7e7fcc571463d231aca5481394d9ace4430	A case of initial presentation and diagnosis of @DISEASE$ is described, following a patient's first @PHENOTYPICFEATURE$ in the surgical ward, where she had been admitted for investigation of abdominal pains.	has_symptom
+c1282cba6324dc70a2d5166b020581656256ec08	@DISEASE$ (FHH) is an autosomal dominant disease characterized by mild hypercalcemia, an inappropriately high parathyroid hormone level, and absence of @PHENOTYPICFEATURE$.	has_symptom
+48ddae5731de86d62b2bead1c7ba752b0f7a2922	Familial hyperparathyroidism (HPT), characterized by hypercalcemia and @PHENOTYPICFEATURE$, and @DISEASE$ (FHH) are the most common causes of hereditary hypercalcemia.	has_symptom
+c8f47ac6f3f24b3036c9962c296a46b06dfa5641	Familial @DISEASE$ (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	false
+930870eab71431ae39f3f87ce239600ff16b0e54	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and @DISEASE$, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	false
+be59cb27bd8d6a22220e53055e4f44f4ea9f3fac	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and @DISEASE$ (FHH) are the most common causes of hereditary hypercalcemia.	false
+4cf9ed075c8caf6a8ac1cdb272d78204ba033a1e	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary @DISEASE$.	false
+8253581ebd2854a6bff1991419842565cec5a1bf	Mutations in the Ca(2+)-sensing receptor result in hypercalcemic or hypocalcemic disorders, such as @DISEASE$, neonatal severe primary hyperparathyroidism, and autosomal dominant hypocalcemic @PHENOTYPICFEATURE$.	has_symptom
+569738ab4c4632ac87d579f0d437b99f3996ad45	@DISEASE$ (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and @PHENOTYPICFEATURE$, which is caused by variation of KMT2A gene.	has_symptom
+9afb03cf3be7cdc3897b05c814b6cbf0b1a81bbf	@DISEASE$ (WDSTS) is a rare genetic disorder characterized by facial gestalt, @PHENOTYPICFEATURE$, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene.	false
+3b8fe6e8b8dcf4bf49ce6a1bcb5fffc42c4b224a	Wiedemann-Steiner syndrome (WDSTS) is a rare @DISEASE$ characterized by facial gestalt, @PHENOTYPICFEATURE$, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene.	false
+2fc8ff92e6b4a4406bdf326f25a522487992acb6	Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, @PHENOTYPICFEATURE$ and @DISEASE$, which is caused by variation of KMT2A gene.	false
+93eb072b052daadb54a5c29bb72a9afeffbc716b	Wiedemann-Steiner syndrome (WDSTS) is a rare @DISEASE$ characterized by facial gestalt, neurodevelopmental delay, @PHENOTYPICFEATURE$ and growth retardation, which is caused by variation of KMT2A gene.	false
+25d7fdc91bbbc3aa277505f97d00400ddff28eee	@DISEASE$ (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, @PHENOTYPICFEATURE$ and growth retardation, which is caused by variation of KMT2A gene.	false
+c88ff778694804624d460ec7be8f32e2dd45d340	Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, @PHENOTYPICFEATURE$, skeletal anomalies and @DISEASE$, which is caused by variation of KMT2A gene.	false
+2e5a30ef521da1ad4937b5c981104d8200b253b5	@DISEASE$ (WSS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay.	has_symptom
+798637080a91d1cb96c945cd18e7bd2d8b2e49dd	Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by @DISEASE$, facial dysmorphism, hypertrichosis cubiti and @PHENOTYPICFEATURE$.	false
+21ea4bdc93f6f973cf23f63b5f8a330b7448b472	@DISEASE$ (WSS) is a rare genetic disorder characterized by growth retardation, @PHENOTYPICFEATURE$, hypertrichosis cubiti and neurodevelopment delay.	false
+de42b5aa2f309d16e986056934f115f236a6fdcf	Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, hypertrichosis cubiti and neurodevelopment delay.	false
+c1b44401dbc3f53cf53182b1a94f1df132914d00	Wiedemann-Steiner syndrome (@DISEASE$) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and @PHENOTYPICFEATURE$.	false
+c75eb806dbec7d361c22b5c088fb722ecc82dc81	Wiedemann-Steiner syndrome (WSS) is a rare @DISEASE$ characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and @PHENOTYPICFEATURE$.	false
+c142290072bece12714a8034b4c653598daebd91	Wiedemann-Steiner syndrome (WSS) is a rare @DISEASE$ characterized by growth retardation, @PHENOTYPICFEATURE$, hypertrichosis cubiti and neurodevelopment delay.	false
+24ef3376d01114c419eeaf6fc4b384664ca88b4f	Wiedemann-Steiner syndrome (@DISEASE$) is a rare genetic disorder characterized by growth retardation, @PHENOTYPICFEATURE$, hypertrichosis cubiti and neurodevelopment delay.	false
+428375f8c3eff02339dff9e3719d07717d71ce22	@DISEASE$ (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and @PHENOTYPICFEATURE$.	false
+13d2206ba081e62b514d64b79989429aa3de7d02	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of @DISEASE$. The most common symptom is a deafness, but it can also be revealed by a @PHENOTYPICFEATURE$, a vertigo, a facial nerve paralysis or headache.	has_symptom
+e49c7668deb3b78851e078c10611d90d4c9e2fff	In this report, we present five cases of @DISEASE$ in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a deafness, but it can also be revealed by a tinnitus, a @PHENOTYPICFEATURE$, a facial nerve paralysis or headache.	false
+176dc008e9a7118221d29a7a3cbb90e5407d2df6	In this report, we present five cases of @DISEASE$ in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a @PHENOTYPICFEATURE$, but it can also be revealed by a tinnitus, a vertigo, a facial nerve paralysis or headache.	false
+09523ccc2ce222a28c3a4f8955a24761dab35352	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of @DISEASE$. The most common symptom is a @PHENOTYPICFEATURE$, but it can also be revealed by a tinnitus, a vertigo, a facial nerve paralysis or headache.	false
+2063fcc6c7d613f1e0931a772d0e2c4687ed59bd	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of @DISEASE$. The most common symptom is a deafness, but it can also be revealed by a tinnitus, a @PHENOTYPICFEATURE$, a facial nerve paralysis or headache.	false
+b561e736954c5a2a89d921742d6553926ddbdb32	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a @PHENOTYPICFEATURE$, but it can also be revealed by a @DISEASE$, a vertigo, a facial nerve paralysis or headache.	false
+50d37e24e05dd91592f237c3d51374da736c273e	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a deafness, but it can also be revealed by a @DISEASE$, a @PHENOTYPICFEATURE$, a facial nerve paralysis or headache.	false
+d55d99fa758359905f465f6978cc8cd5cbdd5cf0	To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in @DISEASE$ (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of @PHENOTYPICFEATURE$ in these patients.	has_symptom
+0e58b97ffc078b74c45f212f771721c0e764e4fa	To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for @PHENOTYPICFEATURE$ (VS) removal and to evaluate the burden of @DISEASE$ in these patients.	false
+1e952cae009321e3a79ea6f5cc2d84b729720a9e	To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in @DISEASE$ (NF2) patients who have undergone translabyrinthine craniotomy for @PHENOTYPICFEATURE$ (VS) removal and to evaluate the burden of tinnitus in these patients.	false
+a8c8eea849dd3bc792408e8dbe96f15b85c205c3	Children in this sample born preterm had a higher incidence of toxic stress, poverty, developmental delay, learning disability, @PHENOTYPICFEATURE$, speech/language disorders, attention-deficit disorder (@DISEASE$)/attention-deficit/hyperactivity disorder (ADHD), autism, and special education/early intervention plans.	has_symptom
+9879ac7f356d32756503f18c27ae5573113b6899	Children in this sample born preterm had a higher incidence of toxic stress, poverty, developmental delay, learning disability, intellectual disability, speech/language disorders, attention-deficit disorder (ADD)/@DISEASE$ (ADHD), @PHENOTYPICFEATURE$, and special education/early intervention plans.	false
+544e24defb26b8c1d374eae03fb14800fa3b1a13	Children in this sample born preterm had a higher incidence of toxic stress, poverty, developmental delay, learning disability, intellectual disability, speech/language disorders, attention-deficit disorder (ADD)/attention-deficit/hyperactivity disorder (@DISEASE$), @PHENOTYPICFEATURE$, and special education/early intervention plans.	false
+9ba8ed1d36278f2b2af41183e9397c9ad3055e01	Children in this sample born preterm had a higher incidence of toxic stress, poverty, developmental delay, learning disability, @DISEASE$, speech/language disorders, attention-deficit disorder (ADD)/attention-deficit/hyperactivity disorder (ADHD), @PHENOTYPICFEATURE$, and special education/early intervention plans.	false
+d3cc0004adaf62a41dc5d391258c35ca18229de6	Children in this sample born preterm had a higher incidence of toxic stress, poverty, developmental delay, learning disability, intellectual disability, speech/language disorders, @DISEASE$ (ADD)/attention-deficit/hyperactivity disorder (ADHD), @PHENOTYPICFEATURE$, and special education/early intervention plans.	false
+7ebcac4c5df43d5416030d038bee7d1957877024	Children in this sample born preterm had a higher incidence of toxic stress, poverty, developmental delay, learning disability, intellectual disability, speech/language disorders, attention-deficit disorder (@DISEASE$)/attention-deficit/hyperactivity disorder (ADHD), @PHENOTYPICFEATURE$, and special education/early intervention plans.	false
+cf9192b0052f2a5e8ce18c78237e688fbe7eb2a9	The MMPI-168(L) and @DISEASE$ in assessing psychopathology in individuals with @PHENOTYPICFEATURE$: between and within instrument associations.	has_symptom
+2ce7c3e8a402b4b7399a06c2a4405fcce99133d9	Genomic abnormalities occur with high frequency in children with @PHENOTYPICFEATURE$ and autistic spectrum disorders (@DISEASE$).	has_symptom
+0c9a8ea6a2eae063601eb75b3c69da9866c8e77c	The rest of the infants presented variable degrees of neurologic involvement: 25 diplegic (D-CP), 27 hemiparetic (H-CP), 22 with slight @PHENOTYPICFEATURE$ or borderline IQ without motor deficit (SMR), and 21 had attention deficit disorder with hyperactivity (@DISEASE$-H).	has_symptom
+c6f7117095dd92d01b9f624ca7a4e15476581e45	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, @PHENOTYPICFEATURE$, speech/language disorder, learning disability, and @DISEASE$/ADHD.	has_symptom
+97f85f12f3a946666918cda073c466cc5dbed7f7	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, @DISEASE$, speech/language disorder, learning @PHENOTYPICFEATURE$, and ADD/ADHD.	false
+7ec047f6e7876020919d30197d1493eed1e6caec	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, intellectual disability, speech/language disorder, learning @PHENOTYPICFEATURE$, and @DISEASE$/ADHD.	false
+4c37616e5b1b41a45c1e5c15bd77121fcd4ad71c	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, intellectual disability, speech/language disorder, learning @PHENOTYPICFEATURE$, and ADD/@DISEASE$.	false
+473a19c64849aaf7709ecb1b47d3b83878fe6ca6	Diffuse white matter involvement with frontal predominance is typical of infantile @DISEASE$ that is clinically characterized by progressive motor and @PHENOTYPICFEATURE$, seizures, and megaloencephaly.	has_symptom
+8c293e2252ca8f970bec003d135f5a8a4ef0791e	Diffuse white matter involvement with frontal predominance is typical of infantile @DISEASE$ that is clinically characterized by progressive motor and mental retardation, @PHENOTYPICFEATURE$, and megaloencephaly.	false
+be429f887db24c77daba2c93c08b31771847727d	Diffuse white matter involvement with frontal predominance is typical of infantile AD that is clinically characterized by progressive motor and @DISEASE$, @PHENOTYPICFEATURE$, and megaloencephaly.	false
+44a7dee67e15a1776a0b22b419ee0741e88ebe81	Control subjects included 16 age-matched children with attention deficit disorder (@DISEASE$) and 18 age-matched children with @PHENOTYPICFEATURE$ (MR) without autistic and organic central nervous diseases.	has_symptom
+6ec87674d2d97a68223abbae56b5fcbfedfc59fa	Among 57 909 children aged 5-17 years who participated in the 2000-2002 National Health Interview Survey, we identified 312 children with vision/hearing disabilities, 711 with @PHENOTYPICFEATURE$, 603 with attention-deficit/hyperactivity disorder (@DISEASE$/HD), and 403 with chronic asthma.	has_symptom
+6b7b0b04a3187b7c7a731410f38bb8623406ff9a	This study provides Class III evidence that adjuvant dexamethasone in adults with @DISEASE$ does not increase negative outcomes such as @PHENOTYPICFEATURE$, death, or negative Glasgow Outcome Scale measures.	has_symptom
+0cc5fe011eb30664a496fa87d15125143cf16b65	One patient experienced a @DISEASE$ years after treatment; this condition resulted in total @PHENOTYPICFEATURE$.	has_symptom
+768da184fed2acd2823196e81e3277b532c5be86	@PHENOTYPICFEATURE$ after @DISEASE$.	has_symptom
+ed37ee1a3ae69157d22c93c36ced705be5ec68b8	@DISEASE$ presenting with bilateral @PHENOTYPICFEATURE$ and ataxia.	has_symptom
+869bea76ad59a64e4c002503859367754499b6bc	Meningococcal meningitis presenting with bilateral @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b798cc79db331400dcc54bbc5c3b3c93c0ee64ca	@DISEASE$ presenting with bilateral deafness and @PHENOTYPICFEATURE$.	false
+2685e59dd02322613ddf4115d226588d03157a1d	@DISEASE$ annually causes approximately 10 000 cases of @PHENOTYPICFEATURE$ in sub-Saharan Africa; there is a need for early detection of affected survivors and promotion of simple hearing devices.	has_symptom
+768da184fed2acd2823196e81e3277b532c5be86	@PHENOTYPICFEATURE$ after @DISEASE$.	has_symptom
+29a7bbcb7867fa0fc2de8ab0fbadbd705a8bd0e0	[@DISEASE$ complicated by arthritis and eighth nerve @PHENOTYPICFEATURE$].	has_symptom
+4197ef9f407de0a461c0c022cb03d3c81efa67ab	He was subsequently proved to have @DISEASE$, and the @PHENOTYPICFEATURE$ and ataxia resolved following appropriate antibiotic therapy.	has_symptom
+668f4a929615994969cf9b311d1a771443bd758a	He was subsequently proved to have @DISEASE$, and the deafness and @PHENOTYPICFEATURE$ resolved following appropriate antibiotic therapy.	false
+abcc94dddce7b193522cb127daf43cbc0da38151	He was subsequently proved to have meningococcal meningitis, and the @DISEASE$ and @PHENOTYPICFEATURE$ resolved following appropriate antibiotic therapy.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3ecdf2aae20ebcd440454daac87b10d0d449ecb5	Restricted diffusion is attributable to infarction, acute hypoxic-ischemic injury, @PHENOTYPICFEATURE$, @DISEASE$, encephalitis and CJD.	has_symptom
+7c898b832f15ee5213c6d4f92a373113ec939cc7	Four human donor eyes with the following forms of central retinal dystrophy: cone-rod dystrophy (CRD), central areolar choroidal dystrophy, @DISEASE$, and cone dystrophy-@PHENOTYPICFEATURE$.	has_symptom
+12c69538a3de2ad4d9b2b6071707a87aff5d19f6	@DISEASE$ presents similarly, though with progressive spinocerebellar @PHENOTYPICFEATURE$ and spastic paraplegia and without trichomegaly.	has_symptom
+aab0aa9bf4c442443d4ef2ceb6d50c68df698f2b	The features of @DISEASE$ vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @PHENOTYPICFEATURE$ and spastic paraplegia.	has_symptom
+58a4544069c2f2c870956792fa86231553a8fba8	The features of @DISEASE$ vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia.	false
+9930cc5c5494833fef6bf59acad1beeed23f2bf1	The features of Laurence-Moon syndrome vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @DISEASE$ and spastic paraplegia.	false
+0f612f0e4c50ae405fa18bb0de5986f3d6e6e9d4	The features of Laurence-Moon syndrome vary widely from @PHENOTYPICFEATURE$, hypogenitalism to @DISEASE$; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia.	false
+8b125dce03a4c433a606edd6ce0444e6a77aab2e	The features of Laurence-Moon syndrome vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic @DISEASE$.	false
+819e8d51732478efccef8b1a9983f9069afddaf9	Evaluation of Sensory Ataxia Rating Scale (SEARS)'s external validity was performed by comparison to: scale for the assessment and rating of @PHENOTYPICFEATURE$ (SARA), Beck balance scale (@DISEASE$), and INCAT sensory sum score (ISS).	has_symptom
+a854cad5cb8d08b78c2750673944da8ced713b85	[Incomplete @DISEASE$ associated with @PHENOTYPICFEATURE$].	has_symptom
+1d9be08f9dde207ed3485ae82770cbd714a363c6	International cooperative @PHENOTYPICFEATURE$ rating scale (ICARS), Berg balance scale (@DISEASE$) and Barthel index (BD were observed before treatment,after 2-week treatment and 4-week treatment.	has_symptom
+7c78992679500839aef691994870555b8871cf10	Clinical assessment of balance using @DISEASE$ and SARAbal in @PHENOTYPICFEATURE$: Synthesis of findings of a psychometric property analysis.	has_symptom
+0d59998ef84fb1d8ac7b2e49d8c57ad898b972ac	The recommended outcome measures (SARA, @DISEASE$ and TUG) are available at no cost, require little equipment and are quick and easy to perform; however, formal psychometric testing of the BBS and TUG in people with @PHENOTYPICFEATURE$ is warranted.	has_symptom
+b8c0709d28d2f7646ae797168edf7a090305e50b	The recommended outcome measures (SARA, BBS and TUG) are available at no cost, require little equipment and are quick and easy to perform; however, formal psychometric testing of the @DISEASE$ and TUG in people with @PHENOTYPICFEATURE$ is warranted.	has_symptom
+27deacfdc3e15b85825a2bc5950a8bd875be4b5b	This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich @PHENOTYPICFEATURE$ (FA), Alstr?m syndrome (AS), Klinefelter syndrome (KS), @DISEASE$ (BBS), Berardinelli-Seip syndrome (BSS) and Down syndrome (DS).	has_symptom
+aa4b061ffe67da99118b4972ebe140564bc73669	This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich @PHENOTYPICFEATURE$ (FA), Alstr?m syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (@DISEASE$), Berardinelli-Seip syndrome (BSS) and Down syndrome (DS).	has_symptom
+e718e3807df404c6b914fb9d594c44ac944e1f97	However, comparable cone synapse abnormalities were not observed in the cases of @DISEASE$, cone dystrophy-@PHENOTYPICFEATURE$, retinitis pigmentosa, or in the normal retinas.	has_symptom
+c94fb8f421f521e1d22654aa2c904c7c7ddaf191	This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, @PHENOTYPICFEATURE$, and (a renal salt-wasting) Tubulopathy, hence the acronym @DISEASE$.	has_symptom
+0c84d70e2960eb961aa31fc6c109b4e734a19a8b	Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) or SeSAME (@DISEASE$) syndromes.	has_symptom
+1612214e73a1df388b0ebaf755a3ba3d2fc5e907	Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) or SeSAME (@DISEASE$) syndromes.	false
+2295ee47c2eb608cb86f18d7b7cc43d3c7f102de	Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, @PHENOTYPICFEATURE$, @DISEASE$, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes.	false
+903217c4130237048adff22e4efa0be4ff593ca9	Mutations or deficiency of KCNJ10 can cause @DISEASE$ with epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes.	false
+59057f0bfa6694edef670a74621531d4f50c23d7	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in @DISEASE$ (SeSAME)/epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.	has_symptom
+b89473802577b028733d3c14fc0df390808522f9	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and @DISEASE$.	false
+7f9bff8f918a5478153b7268729a320672074d8b	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in @DISEASE$ (SeSAME)/epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.	false
+8af3d5d9f93d8efe292b4f0f0813650ef3ea0977	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) @DISEASE$, a complex disorder that includes salt wasting and hypokalemic alkalosis.	false
+eb08f9dd93fe2d0d9995b5536196ec748dcdeca5	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, @PHENOTYPICFEATURE$, @DISEASE$, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.	false
+503ee2f54c60d924580df96b1c6c2432a5029413	cause the autosomal recessive @DISEASE$ which is characterized by epilepsy, ataxia, @PHENOTYPICFEATURE$, and a salt-wasting tubulopathy.	has_symptom
+81c6e7eae01395e56bfe2231584790fb2792f13e	cause the autosomal recessive EAST syndrome which is characterized by epilepsy, @PHENOTYPICFEATURE$, @DISEASE$, and a salt-wasting tubulopathy.	false
+e7d38b1c5680b67157823d28c92e73c4ef98cb15	cause the autosomal recessive @DISEASE$ which is characterized by epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and a salt-wasting tubulopathy.	false
+10c4617de9e48e1903db4f091f166f7fd56939ad	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, @PHENOTYPICFEATURE$, ataxia, and developmental abnormalities.	has_symptom
+15c9b09fe9fa1627cd0cd1ab87e5a4db8330e265	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, @PHENOTYPICFEATURE$, and developmental abnormalities.	false
+3d852db8c0724da25d1aac74bf720faf94176a05	SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @PHENOTYPICFEATURE$, @DISEASE$, ataxia, and developmental abnormalities.	false
+64dd6769cf34ac72c58fa526f80a8be68119d5dc	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, and developmental abnormalities.	false
+6139a72499d8d5b56acc742b3a3c9ecb414f34c6	SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, @DISEASE$, @PHENOTYPICFEATURE$, and developmental abnormalities.	false
+fd1398e4ef64735c4f4cb08b9e69d29e8114d0e8	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by seizures, @PHENOTYPICFEATURE$, ataxia, developmental delay and electrolyte imbalance.	has_symptom
+cf762eae63dc2171dbbfa95b3930770b137eb804	SeSAME/EAST syndrome is a @DISEASE$ in humans, characterised by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance.	false
+0924221a2080017e9bd7d0bec3c21b4076caa7c3	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	false
+62dce5579caae137bfeae204dceed62231831989	SeSAME/EAST syndrome is a @DISEASE$ in humans, characterised by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	false
+8536023621d09166d9ea9a8026d9eb020e21d958	SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by @PHENOTYPICFEATURE$, @DISEASE$, ataxia, developmental delay and electrolyte imbalance.	false
+5974913aa1d352bce710a8a5b40fc768a11d9df2	SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	false
+ff0e1af1204ebcf2e284422374989a545c9e718e	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance.	false
+3d06f5244183786b91587ead0e9f66e25788ff8a	Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, ataxia, @PHENOTYPICFEATURE$ and a renal tubulopathy designated as @DISEASE$.	has_symptom
+6f5d9e947bef36e51e895ae28151b3a6ee7c4ce8	Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, @PHENOTYPICFEATURE$, @DISEASE$ and a renal tubulopathy designated as EAST syndrome.	false
+09683258154056c7c87c1d24ce8017aabfc76fb2	Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness and a renal tubulopathy designated as @DISEASE$.	false
+432d7b5c0165cfc8c6aa05f434d4f8e225db8b1a	@DISEASE$ should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like ataxia, epilepsy or @PHENOTYPICFEATURE$.	has_symptom
+72ae66e2be7f38ecdbfba154e89d1c080b9d3e6a	EAST syndrome should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like @PHENOTYPICFEATURE$, epilepsy or @DISEASE$.	false
+e6618ec4809eb76a97ebd05ddb71a9766ad43ff3	@DISEASE$ should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like @PHENOTYPICFEATURE$, epilepsy or sensorineural deafness.	false
+cd9f70570f3ed2df6687948c8bf02d875a79a4b3	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	has_symptom
+6b49aa176b059cf9590c43c1891cc6f1c809e7ab	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+da8f38d83d3b5013a8ef0d0c53afa9bf8b44da56	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+17a9c652c769a6e372d42f856a1a20753bd51e58	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+3ccfd0667ba38a1ca3d3760decea563178f7a6df	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+7df14792ac4b51520938f642fd3b9049566697d7	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+4998d364dff12957f486b0cddababad54498dfe8	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @DISEASE$, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+ac886c34d3f3c202e09e59035d3fc0d7232d40ef	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+de9531ef84beb29733d79de4c2c6c74ee88e4e39	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+f4fc18115c48a78eece061db18a33186fba72e68	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+c12fe503028bbb936e70b25804d7e778ba9965a1	In some cases @DISEASE$ is associated with multisystem failure including shock, @PHENOTYPICFEATURE$, myocardial failure and adult respiratory distress syndrome.	has_symptom
+8d174008e0fa833648610b144f9a44eb807b013b	@DISEASE$ (TSS) is an acute febrile, exanthematous illness associated with multisystem failure including shock, @PHENOTYPICFEATURE$, myocardial failure and adult respiratory distress syndrome (ARDS).	has_symptom
+c4df48c274234c4621b4cc692ea2ef0d4436f8e8	Toxic shock syndrome (@DISEASE$) is an acute febrile, exanthematous illness associated with multisystem failure including shock, @PHENOTYPICFEATURE$, myocardial failure and adult respiratory distress syndrome (ARDS).	has_symptom
+faf5359716421641f0715464e77c9ac50ecdd355	Patients with @DISEASE$ secondary to Streptococcus showed the greatest severity, exhibiting @PHENOTYPICFEATURE$ and requiring greater respiratory and circulatory support.	has_symptom
+a776685b5bdc734a9940717a2eaea0ef3a23b045	We cared for a man with the full-blown syndrome in whom many features of @DISEASE$ were present, including profound hypotension and @PHENOTYPICFEATURE$.	has_symptom
+efa51a3e62fc7fd118aaa53386f554c7e890639e	Addisonian crisis represents a state of acute adrenocortical insufficiency and occurs in patient with @DISEASE$ who are exposed to stress of infection, surgery, trauma, @PHENOTYPICFEATURE$ and diarrhea.	has_symptom
+2fa8b056cf8748941121dc6be97e2361e15357e6	On review of history, the cause of @PHENOTYPICFEATURE$ and weight loss was questioned and combined with subsequent biochemical testing a diagnosis of @DISEASE$ was made.	has_symptom
+de2014ea10cc7b7c6185d6c513e114f630f66523	The diagnosis of @DISEASE$ at autopsy is aided by several factors including 1) history, including salt craving, features consistent with orthostatic hypotension, and GI complaints including nausea, @PHENOTYPICFEATURE$ and pain, 2) physical examination findings of increased pigmentation and small or unidentifiable adrenal glands, 3) serologic testing for 21-hydroxylase antibodies, 4) serum cortisol concentrations, and 5) vitreous electrolyte testing.	has_symptom
+e264159dca15b8f865122126c78a172d2ee16ec2	Dysphagia and @PHENOTYPICFEATURE$ are frequently present in untreated @DISEASE$.	has_symptom
+fe28e4a5607819274f7d80c79917de9a5fbf8248	@PHENOTYPICFEATURE$ and @DISEASE$ are frequently present in untreated Addison's disease.	false
+4a0fa594c9ca2d70a7b582aff4e02fb8fa5771da	@PHENOTYPICFEATURE$ and vomiting are frequently present in untreated @DISEASE$.	false
+481841a5090e5868239aa372fd2f06b4f1ba005b	Main presenting symptoms of @DISEASE$ such as fatigue, anorexia, @PHENOTYPICFEATURE$ and convulsion often mimics central nervous system (CNS) infections.	has_symptom
+efa7ce0e509a726cf3849b92fb153154d187196d	A patient with @DISEASE$, treated with conventional hydrocortisone replacement, developed deep hyperpigmentation, headache and @PHENOTYPICFEATURE$.	has_symptom
+ed130c3912b37ac42b21ed5b226ed69180100766	@DISEASE$ (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as growth retardation, orofacial, hand or limb malformations, urogenital anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+8e6021b36362117a73e50697156c9194b532902c	Diamond Blackfan anemia (DBA) is a genetic @DISEASE$ characterized by red blood cell aplasia in association with developmental abnormalities such as @PHENOTYPICFEATURE$, orofacial, hand or limb malformations, urogenital anomalies, and heart defects.	false
+4ece5ce7837f952721dce5ff25c0cd6d7b21a5cd	@DISEASE$ (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as @PHENOTYPICFEATURE$, orofacial, hand or limb malformations, urogenital anomalies, and heart defects.	false
+f379eae8f033f8fc62d5abf8dd4a20590b89e0e3	Diamond Blackfan anemia (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as @PHENOTYPICFEATURE$, orofacial, hand or limb malformations, urogenital anomalies, and @DISEASE$.	false
+9653ad489e02dcfe3476648dab1df348f2d5adfe	Approximately 50% of patients with @DISEASE$ exhibit growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and @PHENOTYPICFEATURE$.	has_symptom
+176fbd88ca6203bddc77f67337bfc9c7d0654e75	Approximately 50% of patients with @DISEASE$ exhibit @PHENOTYPICFEATURE$ and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and congenital heart defects.	false
+16c96390f427fe82faf4eca18d3cb4cc2e97e9a0	Approximately 50% of patients with @DISEASE$ exhibit growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+d99f6e40e69e34b67c05c7e46bd675241e8675de	Approximately 50% of patients with DBA @DISEASE$ growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+3c8469d86168aaf1cc65273bbf1e45fb2738c18a	Approximately 50% of patients with DBA exhibit @PHENOTYPICFEATURE$ and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and @DISEASE$.	false
+171730092dcde4638164aa68f9dfc6034ca0d960	Approximately 50% of patients with DBA @DISEASE$ @PHENOTYPICFEATURE$ and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and congenital heart defects.	false
+405846ca4a90251f91df16a5d932cc26691f54f0	Approximately 50% of patients with DBA exhibit growth retardation and multiple @DISEASE$, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+717a7ee9bac240775be23cc82cd6706114e4bc6c	Approximately 50% of patients with DBA exhibit growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and @DISEASE$.	false
+5e166a1b7400501c946e0bfe988c6c4e71555483	Approximately 50% of patients with DBA exhibit @PHENOTYPICFEATURE$ and multiple @DISEASE$, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and congenital heart defects.	false
+84bf0f4ab493644f02322313b9479a17aa2955a0	Outcome is unfavourable; approximately 80% of children with @DISEASE$ suffer from mild to severe neurological handicaps, mainly @PHENOTYPICFEATURE$.	has_symptom
+be019090606996217cd877b304167d4f93109b59	@PHENOTYPICFEATURE$ is a common problem in patients with @DISEASE$ (MPS IV) throughout their life.	has_symptom
+6a139a7e47ccdcc7ff8d82e5376bf6dee4985f73	@DISEASE$ is a syndrome usually characterized by limb and @PHENOTYPICFEATURE$, a raised sedimentation rate, hypergammaglobulinaemia, subcutaneous fasciitis and peripheral as well as tissue eosinophilia.	has_symptom
+b9e5d27740083eeeec94a44d376bedf436fc07ed	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	has_symptom
+af0e17a0499e5852e164c3a46af9b75f6288b15a	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, and pancytopenia.	false
+4b1fcb56f3d08ceb4256207f41cd583b801ee9a0	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+5467ec03d7cd0235152448c21c464f76fd057c50	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, cerebellar malformation, and pancytopenia.	false
+e029c97f4336fd1b0dd01ac6456ac1dd60a9b926	@DISEASE$ (HHS) includes intrauterine growth retardation, @PHENOTYPICFEATURE$, mental retardation, cerebellar malformation, and pancytopenia.	false
+a3f103c46ab07dc6a3817d3e0b2d89ea53dafd2b	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, cerebellar malformation, and pancytopenia.	false
+97583fe9f5bfa0bafa7a1a171723088d8627b3e9	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+3398d9fe2326b072a27b4b1fe684a2e37242a3ab	[Anatomoclinical study of a rigid and @PHENOTYPICFEATURE$ form of @DISEASE$ in children].	has_symptom
+b0d0b124d63f4322666e6e871a80d74d0236bfe0	These include not only typical mitochondrial syndromes with neurological features such as encephalomyopathy, @PHENOTYPICFEATURE$ epilepsy, neuropathy and ataxia; but also secondary mitochondrial involvement in neurodegenerative disorders such as Alzheimer's, Parkinson's and @DISEASE$.	has_symptom
+38a10fdb66d749522a4f80c4e16abe49f7c05396	These include not only typical mitochondrial syndromes with neurological features such as encephalomyopathy, myoclonic epilepsy, @DISEASE$ and @PHENOTYPICFEATURE$; but also secondary mitochondrial involvement in neurodegenerative disorders such as Alzheimer's, Parkinson's and Huntington's disease.	false
+f50991a0b67290b426e02f6103e90c909bbae720	These include not only typical mitochondrial syndromes with neurological features such as encephalomyopathy, myoclonic epilepsy, neuropathy and @PHENOTYPICFEATURE$; but also secondary mitochondrial involvement in neurodegenerative disorders such as Alzheimer's, Parkinson's and @DISEASE$.	false
+1f6952de9d9df5224f6bcb3ca298c098a12d29d2	These include not only typical mitochondrial syndromes with neurological features such as encephalomyopathy, @DISEASE$ epilepsy, neuropathy and @PHENOTYPICFEATURE$; but also secondary mitochondrial involvement in neurodegenerative disorders such as Alzheimer's, Parkinson's and Huntington's disease.	false
+9430389586569b75b21abd2a4eafd36b23def902	Neurologic causes included intracranial hemorrhage (8), sudden unexpected death in epilepsy (6, including 2 with juvenile @PHENOTYPICFEATURE$ epilepsy), aneurysmal subarachnoid hemorrhage (2), acute ischemic stroke (1), and aspiration from @DISEASE$ (1).	has_symptom
+c38bcb2d1549d15f88e19a0c72d4746b81b62668	At various times, family members have carried diagnoses of Alzheimer's disease, @DISEASE$, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	has_symptom
+73e65b77058d9ec885786c701e81914641bcf672	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, myoclonic epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, @DISEASE$ and Gerstmann-Str?ussler syndrome.	false
+ff1cdd8c7b2e1c9997f860ad3f80977ec90a6efd	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, myoclonic epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler @DISEASE$.	false
+6714b3ed822974fdec3a59e29ece0c34b2263cd6	At various times, family members have carried diagnoses of Alzheimer's disease, @DISEASE$, Parkinson's disease, myoclonic epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+c313b0f719cca216a3eac620c8abca244a2a917e	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @DISEASE$ epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+64557596f775df26a3075b5052543a08db96e618	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, @DISEASE$, myoclonic epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+f4278a8263b98228c098db059190b1d387ae28de	Juvenile @DISEASE$ presenting as progressive @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+7a20c9b6d8657da11ded925bca0f50a2ffc592d4	The endocrinological actions of quipazine, a direct serotonin receptor agonist, were investigated in both normal subjects (NS) and individuals with neurological disorders, i.e., @DISEASE$ (HD), @PHENOTYPICFEATURE$ epilepsy (ME) and cluster headache (CH).	has_symptom
+832ba87ce3fcb7590b7f643890a409b7c478e8a6	Expansions in tandem repeats are known to cause many monogenic disorders, which mainly affect the nervous system, including @DISEASE$, various spinocerebellar ataxias, other polyglutamine diseases, Friedreich ataxia, fragile X syndrome, @PHENOTYPICFEATURE$ epilepsy, polyalanine disorders, and myotonic dystrophy.	has_symptom
+75ada9786b68380dea86a83f47a0f4a62891c105	Expansions in tandem repeats are known to cause many monogenic disorders, which mainly affect the nervous system, including Huntington's disease, various spinocerebellar ataxias, other polyglutamine diseases, Friedreich @PHENOTYPICFEATURE$, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, and @DISEASE$.	false
+a5c4acd76b12295c0f00e4dc88f289672f3f5776	Expansions in tandem repeats are known to cause many monogenic disorders, which mainly affect the nervous system, including Huntington's disease, various spinocerebellar ataxias, other polyglutamine diseases, Friedreich @PHENOTYPICFEATURE$, @DISEASE$, myoclonic epilepsy, polyalanine disorders, and myotonic dystrophy.	false
+1e3771f226143f2611d92b67544117f9a6e361f0	Expansions in tandem repeats are known to cause many monogenic disorders, which mainly affect the nervous system, including @DISEASE$, various spinocerebellar ataxias, other polyglutamine diseases, Friedreich @PHENOTYPICFEATURE$, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, and myotonic dystrophy.	false
+d0663d91cc9001855d52fa5d85fc4307805e4338	Expansions in tandem repeats are known to cause many monogenic disorders, which mainly affect the nervous system, including Huntington's disease, various spinocerebellar ataxias, other polyglutamine diseases, Friedreich @PHENOTYPICFEATURE$, fragile X syndrome, @DISEASE$ epilepsy, polyalanine disorders, and myotonic dystrophy.	false
+562215fdefc4812d67389a5e76af70bd30b9e88b	The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and @DISEASE$), and several neurodegenerative disorders of brain iron accumulation.	has_symptom
+23011a8908cf47f8c5ed74876d3aea10d6a7a487	Humeroradial synostosis has been found in three cases of @DISEASE$, a syndrome characterized by @PHENOTYPICFEATURE$, upper and lower extremity phocomelia, and oligodactyly of the upper limbs.	has_symptom
+eda8414cc7163c037bd80b870609a988dd74f905	@DISEASE$ (MSA) presents with fairly symmetrical, levodopa unresponsive parkinsonism and additional features like @PHENOTYPICFEATURE$, cerebellar and corticospinal tract involvement.	has_symptom
+f61e27590e4223e5f0eb7989a35d62a50ae3f41f	Comparative evaluation of cardiac @PHENOTYPICFEATURE$ in spinocerebellar ataxias (SCA) and idiopathic sporadic ataxias (IA) not fulfilling the criteria of @DISEASE$.	has_symptom
+3fc8379c8b7b0747c8812b4d2f0e3f3caa8534b6	All 7 patients had @PHENOTYPICFEATURE$ and 6 responded poorly to levodopa therapy, making a diagnosis of @DISEASE$ probable.	has_symptom
+8b4770b69381db79419d1f91d1e019fb4851148e	At diagnosis, all PSP patients had oculomotor palsy, whereas 89% of @DISEASE$ patients had @PHENOTYPICFEATURE$; bradykinesia and falls were the most frequent common signs.	has_symptom
+3d47490900d4179996e23acd8e6c47189aee557d	Cardiovascular @PHENOTYPICFEATURE$ in Parkinson's disease and @DISEASE$.	has_symptom
+3d47490900d4179996e23acd8e6c47189aee557d	Cardiovascular @PHENOTYPICFEATURE$ in Parkinson's disease and @DISEASE$.	has_symptom
+3d47490900d4179996e23acd8e6c47189aee557d	Cardiovascular @PHENOTYPICFEATURE$ in Parkinson's disease and @DISEASE$.	has_symptom
+edb50f4731355f782c437c2e41183a9fdd3b0f30	@PHENOTYPICFEATURE$ in pathologically confirmed @DISEASE$ and idiopathic Parkinson's disease--a retrospective comparison.	has_symptom
+e29064536925bde8a0103dbe4bd584418ce89d35	@DISEASE$ (MSA) is a neurodegenerative disease characterized by a cerebellar syndrome, @PHENOTYPICFEATURE$, and extrapyramidal signs.	has_symptom
+04f2932e3253ecdaccc59053349cca1925b46724	@PHENOTYPICFEATURE$ is frequent in dementia with Lewy bodies and the severity is intermediate between that of @DISEASE$ and Parkinson disease.	has_symptom
+6856a6a4894ca2149e536cb482a308a529b61d93	Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, @PHENOTYPICFEATURE$-retardation-dysmorphism and @DISEASE$.	has_symptom
+e2b67faaccc5dde9f5dbfa059bb145ed868a787a	A consanguineous family with Hirschsprung disease, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-@DISEASE$).	has_symptom
+506c20afcb5e986bea995f1a2c8e54bb41b0c52b	A consanguineous family with @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-Shprintzen syndrome).	false
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	false
+98c32a753d68151d5f8143eb70c0010366cbf27c	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and @DISEASE$ (Goldberg-Shprintzen syndrome).	false
+b2f6d2f60bd0c91325e5131743d97c645501facc	In addition to physical manifestations, @DISEASE$ is associated with a?high prevalence of psychiatric disorders, such as @PHENOTYPICFEATURE$, schizophrenia and attention-deficit/hyperactivity disorder.	has_symptom
+48d6d55a0919efd459f350ba64306cdd7c2cd7a0	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, hypoparathyroidism, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	has_symptom
+09184a48dc201b006721af683763241ceb0bdb44	We describe 2 patients with a partial DiGeorge syndrome (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, @DISEASE$) and a rearrangement of chromosome 10p.	false
+73637361df0582ba48eb01afd2660fdbded8d33d	We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, @DISEASE$) and a rearrangement of chromosome 10p.	false
+e4e90cb5f408f75dd1c0c33c8b60aa0550d4e65b	We describe 2 patients with a partial @DISEASE$ (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+3f80c592691934cec8f99946f2d709dd6ec29022	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+2a2a4ac7e12a591bac8207719ca6c7b813d3f461	A 34-year-old man with partial @DISEASE$ suffered from seizures and @PHENOTYPICFEATURE$ from the age of three years.	has_symptom
+ac4aba4cf0a583c00cbbd5c095de8fb3876539c6	A 34-year-old man with partial @DISEASE$ suffered from @PHENOTYPICFEATURE$ and mental retardation from the age of three years.	false
+985b2617379bc808812c54eaf0980664582edacd	A 34-year-old man with partial DiGeorge syndrome suffered from @PHENOTYPICFEATURE$ and @DISEASE$ from the age of three years.	false
+2bb7ff4067f81afcd41d3f867a8002628630a600	Hirschsprung disease, unusual face, @PHENOTYPICFEATURE$, epilepsy, and congenital heart disease: Goldberg-@DISEASE$.	has_symptom
+1ddf6107844f4d0a7e8c5b77991c32d3fb9ffe49	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+d92950f3d8adc0a32f17c9926fbf1c766694c2f0	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+6cacfce95c6f4ccf75434e4a55a2eb6b2951702f	DiGeorge syndrome (@DISEASE$) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+033ff69a6ec16b890c3c2c48d4751872b3f86a33	DiGeorge syndrome (DGS) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3a1103d2fd49487d6c8208bf32e1b371854c59c1	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	has_symptom
+c2205167510e6873ea2d3b27882c6db3759601f2	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability and primary hypoparathyroidism.	false
+f5748657da0047bec11b13f3750eb31e7f519ab3	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability and primary hypoparathyroidism.	false
+43086dd736a233ab24d64a4766933825e0057a1d	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$ and primary hypoparathyroidism.	false
+2758a82759e21fdb6cbde58d624ee34ef7b446ed	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability and primary @DISEASE$.	false
+e26d694cce4b53aa933647b968feab308b659b1b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	has_symptom
+d144f159d03a069a01751e85af0da458262785e4	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @DISEASE$, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+8be2bad1de56ea6984013aa4097d615918c90e6a	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic @DISEASE$ characteristics.	false
+a5263cd04138cacc1007da0d44ddc7075ec15c8b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+bd9a745b9f43a45480a85b3bdbb588ab78366b21	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple @DISEASE$ syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+7b0e56b7c25b2daccea9834c241fb27f4d565d93	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly @DISEASE$ distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+1ca24fbc70ed752ad2df9ca4e695feef6434e5b7	@DISEASE$ in humans is characterized by immunodeficiency, heart defects, @PHENOTYPICFEATURE$ and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	has_symptom
+22ee69d129e64ecf27d2fc8df357efe00d89deee	DiGeorge syndrome in humans is characterized by immunodeficiency, @PHENOTYPICFEATURE$, @DISEASE$ and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	false
+4242dac9e03a75ae3215ccc8b3aefd3c1fe5cc90	@DISEASE$ in humans is characterized by immunodeficiency, @PHENOTYPICFEATURE$, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	false
+b64ebfb07cbae474a62b0f763c5c18051c95f39a	DiGeorge syndrome in humans is characterized by @DISEASE$, heart defects, mental retardation and @PHENOTYPICFEATURE$; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	false
+53311c2e20792665a8b805459d02e0729a049145	DiGeorge syndrome in humans is characterized by immunodeficiency, heart defects, @DISEASE$ and @PHENOTYPICFEATURE$; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	false
+92440947b3324edc91a9b8f1ddd5a2d577034428	@DISEASE$ in humans is characterized by immunodeficiency, heart defects, mental retardation and @PHENOTYPICFEATURE$; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	false
+b56cbf96ff45620ba96a6cf55d728c438078977d	DiGeorge syndrome in humans is characterized by @DISEASE$, @PHENOTYPICFEATURE$, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases.	false
+624c4fae56d4975369383dc960a0d1df77fd6a2e	Goldberg-@DISEASE$ (GOSHS, MIM #609460) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, specific facial gestalt and Hirschsprung's disease (HSCR).	has_symptom
+013e71b11ceff1819c56e4afb76d0f6ad25a476c	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	has_symptom
+bfde79dac423f1af82c7cae227975ae75399085a	PMLD is characterized by early-onset nystagmus, delayed development (motor @DISEASE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+bb53bd9c9a4c004e3bfe5df83bdfa86873faa21d	PMLD is characterized by early-onset nystagmus, delayed development (motor @DISEASE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+da00efb895bf1ae0bdf1c053eb24e19f67ef3593	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, @DISEASE$, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+0e1d25e8a321428f3f8325c351c767f170895911	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, @DISEASE$, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+8afc97f7f27e4b7d63e1e3d0c7c3533bf4c3b233	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), @DISEASE$, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+d5721c4644937607ad5fa846af2e8a53f91bd108	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	false
+9b75e537123b1caafea55ab6c1eaf0c186b27218	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	false
+8386419200b22b722adbd8159560625fc915d679	@DISEASE$ is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+067b3c21f89094b6984ec4ee0cb15bcd7e4414b2	@DISEASE$ is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+415e04f34100b990f91d0e8be4f7da206791618a	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), @DISEASE$, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+0977f6531b3cdd6e780b26a2066014c644e4a317	The NRT was administered to 64 children at 4 years of age; 44 had a history of typical language development (HTD), and 20 had a history of @PHENOTYPICFEATURE$ (@DISEASE$) at 16 months of age.	has_symptom
+272481ba766c338786be0d5dc8c8e111f5898676	myotonic dystrophy, also called the Curschmann-@DISEASE$, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and @PHENOTYPICFEATURE$, which can affect both mother and child.	has_symptom
+0678ef3dfcaff3cfbbd6c81f6cbfa2c9cb96e36e	@DISEASE$, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	false
+8b5fdc31da8e665cef04310e11ec1709df1a2001	myotonic dystrophy, also called the Curschmann-@DISEASE$, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	false
+e266942f649696805d1663cc2f77d82518030e65	myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	false
+8ec3b2d3542f5d5b577a209302900c361a49f034	myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and @DISEASE$, which can affect both mother and child.	false
+9147033aa3bb3e320e94d52fa5767a1e54c2d667	@DISEASE$ is the neonatal form of Steinert @PHENOTYPICFEATURE$.	has_symptom
+a862ad8d50f5e9f0cc376bbabd6b408c1d262974	@DISEASE$ (DM1) is the most common form of adult-onset muscular dystrophy primarily characterized by muscle @PHENOTYPICFEATURE$, weakness and atrophy.	has_symptom
+627c00335b8d35406673d1289b6cf12f01dc9b79	The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with @DISEASE$ (DM1), who present at the skeletal muscle level fibres rearrangement, muscle weakness and @PHENOTYPICFEATURE$, especially in the distal muscles.	has_symptom
+bfacae7bd916dca7c1f0a290a3f37b4a8e438374	The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with myotonic dystrophy type 1 (DM1), who present at the skeletal muscle level fibres rearrangement, @PHENOTYPICFEATURE$ and @DISEASE$, especially in the distal muscles.	false
+8a25cdbb770bc4e514ce1fdc8667f2e4286a6309	The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with @DISEASE$ (DM1), who present at the skeletal muscle level fibres rearrangement, @PHENOTYPICFEATURE$ and myotonia, especially in the distal muscles.	false
+ab45b4e3a07669b2c72cbabdb2164f4152d9fd17	[@DISEASE$ or @PHENOTYPICFEATURE$ atrophica; critical study and synthesis].	has_symptom
+488a99a7e90b6191f4a567876b0313422d9b174c	The @DISEASE$ is characterized by dysmorphic face, @PHENOTYPICFEATURE$, narrow hands and feet and mild mental retardation.	has_symptom
+5d3fbb85d0bf39df8a53a1c04b9b6b894f1cae8a	Mental retardation, hypotonia, @PHENOTYPICFEATURE$, ocular, facial, dental, and limb abnormalities (@DISEASE$).	has_symptom
+c63df4f73ea7f136848e6ed9b6c6ab9bbec0f748	@PHENOTYPICFEATURE$, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (@DISEASE$).	false
+18b40169142079f7a6495b91b01d56cc462d67b0	Mental retardation, hypotonia, obesity, ocular, facial, dental, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+64362ea62658b8652b5fdce6ff80792e04516e48	Mental retardation, hypotonia, @DISEASE$, ocular, facial, dental, and @PHENOTYPICFEATURE$ (Cohen syndrome).	false
+f5d0a623ea7cd6e72b6675bbe0afec1f6ece2510	@PHENOTYPICFEATURE$, hypotonia, @DISEASE$, ocular, facial, dental, and limb abnormalities (Cohen syndrome).	false
+5f682430bc679ee00cb63af1d7df41fb559cab48	Postoperative respiratory management was carefully performed because of @DISEASE$-associated facial malformation, @PHENOTYPICFEATURE$, and reduced muscle tonus.	has_symptom
+747b49e0cd26c5ab7524bbb7110d353446b28c20	@DISEASE$ was initially described as a syndrome including @PHENOTYPICFEATURE$, hypotonia, mental deficiency, and facial, oral, ocular and limb anomalies.	has_symptom
+b7cab4acb5243e752a35574e17445794292bc3f4	@DISEASE$ was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and @PHENOTYPICFEATURE$.	false
+6ce214f466d497ba98e8d7815cb73700e761a3dc	@DISEASE$ was initially described as a syndrome including obesity, hypotonia, @PHENOTYPICFEATURE$, and facial, oral, ocular and limb anomalies.	false
+ac33b64e516c196bf3c1eb20989bfb9acbb909f8	Cohen syndrome was initially described as a syndrome including @DISEASE$, hypotonia, @PHENOTYPICFEATURE$, and facial, oral, ocular and limb anomalies.	false
+607a3c10033cea46c2f96f9d1dba9112d70462bd	Cohen syndrome was initially described as a syndrome including obesity, hypotonia, @PHENOTYPICFEATURE$, and @DISEASE$, oral, ocular and limb anomalies.	false
+35767a316430f56558dd6609cba94567aeafa1e4	Cohen syndrome was initially described as a syndrome including obesity, hypotonia, mental deficiency, and @DISEASE$, oral, ocular and @PHENOTYPICFEATURE$.	false
+89c00e18bd40906d9fe2cf7642d64092a2069306	Cohen syndrome was initially described as a syndrome including @DISEASE$, hypotonia, mental deficiency, and facial, oral, ocular and @PHENOTYPICFEATURE$.	false
+f4d86e315e1d20fc41e5f58ce44939e7b6023bd1	The @DISEASE$ is an autosomal recessive disorder which is characterized by hypotonia, @PHENOTYPICFEATURE$, mental deficiency, and facial, oral and ocular anomalies.	has_symptom
+5f43a52aa843547682d6d99fa71b64a6827cae19	The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, and facial, oral and ocular anomalies.	false
+ed4351e7dd3aab156016356198b34c57ac6597c2	The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, obesity, @PHENOTYPICFEATURE$, and @DISEASE$, oral and ocular anomalies.	false
+1201d154c2ea1b069aa48841262a665587c34269	The @DISEASE$ is an autosomal recessive disorder which is characterized by hypotonia, obesity, @PHENOTYPICFEATURE$, and facial, oral and ocular anomalies.	false
+a5c329ea7605b6661fc3e09c009be9c4c5beb7a5	Duplication or insertion in 15q11-13 associated with mental retardation-short stature and @PHENOTYPICFEATURE$-Prader-Willi or @DISEASE$?	has_symptom
+d0d7035a97f94b6c41ad057e19e5fc2c71551f61	Duplication or insertion in 15q11-13 associated with mental retardation-@PHENOTYPICFEATURE$ and obesity-Prader-Willi or @DISEASE$?	false
+1506aedcd03b12185ffa055fa6bf81cdb1d0a116	Duplication or insertion in 15q11-13 associated with @PHENOTYPICFEATURE$-short stature and obesity-Prader-Willi or @DISEASE$?	false
+8b31189e164ea8c21a164677a0b5817185ab8abb	Duplication or insertion in 15q11-13 associated with mental retardation-@PHENOTYPICFEATURE$ and @DISEASE$-Prader-Willi or Cohen syndrome?	false
+aa4be586f8b924c5f5cc80a1050a1d210270ee9b	Duplication or insertion in 15q11-13 associated with @PHENOTYPICFEATURE$-short stature and @DISEASE$-Prader-Willi or Cohen syndrome?	false
+a8e245a3af89f2bdf326769207da4a7c296e4c42	The @DISEASE$ is a genetic disorder consisting of mental retardation, @PHENOTYPICFEATURE$, hypotonia, and a characteristic craniofacial appearance.	has_symptom
+e643bc05459d548d87238fd9804ac4c66c0ba245	The Cohen syndrome is a @DISEASE$ consisting of @PHENOTYPICFEATURE$, obesity, hypotonia, and a characteristic craniofacial appearance.	false
+52c4ed4e56a6971345b3ab68e509e2f979a7cc36	The @DISEASE$ is a genetic disorder consisting of @PHENOTYPICFEATURE$, obesity, hypotonia, and a characteristic craniofacial appearance.	false
+2333027d074b9b3d41886eaba26192511808a714	The Cohen syndrome is a genetic disorder consisting of @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, and a characteristic craniofacial appearance.	false
+d8c8e94d092e36318778b530c3c08d8183d9bcd2	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, @PHENOTYPICFEATURE$, short stature as well as oral, ocular, and limb anomalies.	has_symptom
+47620834637063b80faebb9c9c4cb1b080224bc6	The @DISEASE$ is an autosomal recessive syndrome that causes @PHENOTYPICFEATURE$, obesity, short stature as well as oral, ocular, and limb anomalies.	false
+e7d68c8df70bc2b410dfdd0a038ceda8006a92f9	The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, @DISEASE$, @PHENOTYPICFEATURE$ as well as oral, ocular, and limb anomalies.	false
+32d9438c48d4e58daa51703ec91b7cd2a0f3d97e	The Cohen syndrome is an autosomal recessive syndrome that causes @PHENOTYPICFEATURE$, @DISEASE$, short stature as well as oral, ocular, and limb anomalies.	false
+4bf5fab1a92fbc79c6b555b5972f7e8f6a19b2e6	The Cohen syndrome is an autosomal recessive @DISEASE$ that causes mental retardation, obesity, short stature as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+9908f9e7a243486163ea2045a599850f39c0b542	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+561e5499edebbce222570034c61d286811e7150e	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, obesity, @PHENOTYPICFEATURE$ as well as oral, ocular, and limb anomalies.	false
+249d26cdecf796bb626dca07d12981b94cbdb5c1	The Cohen syndrome is an autosomal recessive @DISEASE$ that causes mental retardation, obesity, @PHENOTYPICFEATURE$ as well as oral, ocular, and limb anomalies.	false
+027d8d1a870e93a01b60eebfbf000e534bad1f5e	The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, @DISEASE$, short stature as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+94b42713b33ac43f9a486d9442666f48941fffd8	The Cohen syndrome is an autosomal recessive @DISEASE$ that causes @PHENOTYPICFEATURE$, obesity, short stature as well as oral, ocular, and limb anomalies.	false
+de56aee9ec403e8d66b2b34bc2194bee578d215f	Both children exhibited the typical features of @DISEASE$, i.e. @PHENOTYPICFEATURE$, hypotonia, mental deficiency and a dysmorphic syndrome mainly involving the facies and extremities.	has_symptom
+6349952a0598de382bf787fa7ef0184b970bc17e	Both children exhibited the typical features of Cohen syndrome, i.e. obesity, hypotonia, @PHENOTYPICFEATURE$ and a @DISEASE$ mainly involving the facies and extremities.	false
+4f5728cf8dc61801b3d63c0555d8a7fee0bc5c72	Both children exhibited the typical features of @DISEASE$, i.e. obesity, hypotonia, @PHENOTYPICFEATURE$ and a dysmorphic syndrome mainly involving the facies and extremities.	false
+47a7d21d71b5b7caa80dd6114aae68a1cd8fc94d	Both children exhibited the typical features of Cohen syndrome, i.e. @DISEASE$, hypotonia, @PHENOTYPICFEATURE$ and a dysmorphic syndrome mainly involving the facies and extremities.	false
+6d51f39c0f37c019470e21c5d200ecd55c9e9d9f	@DISEASE$ is a rare autosomal recessive disorder characterized by hypotonia, @PHENOTYPICFEATURE$, developmental delay, mental retardation, and facial, oral, ophthalmic, and limb deformities.	has_symptom
+f5e7f3f348112a1844afd6a9d1c4d0f96a119089	@DISEASE$ is a rare autosomal recessive disorder characterized by hypotonia, obesity, developmental delay, @PHENOTYPICFEATURE$, and facial, oral, ophthalmic, and limb deformities.	false
+802ff805b60c4fe1d57964200c794e74a9cf908f	Cohen syndrome is a rare autosomal recessive disorder characterized by hypotonia, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, and facial, oral, ophthalmic, and limb deformities.	false
+a16cf2cb7d0cadb9d73a983f7566d6c70dd6a3e6	This case report describes a young non-@PHENOTYPICFEATURE$ patient with @DISEASE$ and previous history of optic nerve glioma, which developed multiple wedge-shaped retinal nerve fiber layer defects close to a chorioretinal scar in the fellow eye.	has_symptom
+f36b689e4a4f700bb0e9be8cf20c59b0dd27700e	@PHENOTYPICFEATURE$ and globe enlargement associated with @DISEASE$.	has_symptom
+dfec4c3eabe038bac68cffeffa53bf5048fe28aa	The syndrome that is autosomal dominantly inherited and characterized by @PHENOTYPICFEATURE$, dysplastic nails, and normal hair is known as hypodontia-nail dysplasia syndrome, or @DISEASE$.	has_symptom
+495ff8148c71296835370a23872e7027c9b4977f	The syndrome that is autosomal dominantly inherited and characterized by @PHENOTYPICFEATURE$, dysplastic nails, and normal hair is known as @DISEASE$ syndrome, or tooth-and-nail syndrome.	has_symptom
+c7afc163e441bfeff3d598ed84aee2510769ed54	The syndrome that is autosomal dominantly inherited and characterized by hypodontia, @PHENOTYPICFEATURE$, and normal hair is known as hypodontia-nail dysplasia syndrome, or @DISEASE$.	false
+2fad04a11909f1f5083351ff71e3c6655bd4ab6b	The syndrome that is autosomal dominantly inherited and characterized by @DISEASE$, @PHENOTYPICFEATURE$, and normal hair is known as hypodontia-nail dysplasia syndrome, or tooth-and-nail syndrome.	false
+b323a0073f9e893087d72a433a6c9fe9edeb6242	The syndrome that is autosomal dominantly inherited and characterized by hypodontia, @PHENOTYPICFEATURE$, and normal hair is known as hypodontia-nail dysplasia @DISEASE$, or tooth-and-nail syndrome.	false
+f0593c8979a108027ef828351d6daf8a43edff9c	The syndrome that is autosomal dominantly inherited and characterized by hypodontia, @PHENOTYPICFEATURE$, and normal hair is known as @DISEASE$ syndrome, or tooth-and-nail syndrome.	false
+5a06fcadcd78196adb556a29408578ad45358f8d	This report describes familial @PHENOTYPICFEATURE$, fingernail onychorrhexis, and toenail koilonychia consistent with @DISEASE$.	has_symptom
+4502568a8525a356d4d971a1ce66e25fffd497ec	Individuals with @DISEASE$ (DS) have higher rates of @PHENOTYPICFEATURE$.	has_symptom
+257df409b2a3934f17923614d3828002e9088271	There are high rates of @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+0096260183c2a7db92fcd7ad9d4f8f650ac7f45d	Overweight and @PHENOTYPICFEATURE$ amongst @DISEASE$ adults.	has_symptom
+fdbbcc6ee0f9da3dc95b5419f750730233909877	Maternal @PHENOTYPICFEATURE$ and risk of @DISEASE$ in the offspring.	has_symptom
+d8610927857c5b853c1382ae6005476611e4018f	Maternal @PHENOTYPICFEATURE$ and @DISEASE$ in the offspring: is there a link?	has_symptom
+0c73d773e609ad0d516888133e3728df4803c449	Children with @DISEASE$ have a higher risk for developing @PHENOTYPICFEATURE$.	has_symptom
+0270ec0779e6c207ef547ce770be1df3de33b979	Effects of @PHENOTYPICFEATURE$ on gait pattern in young individuals with @DISEASE$.	has_symptom
+82fa5046b38a2c710f58d4803eb917a7facd11bc	Studies report that @PHENOTYPICFEATURE$ is more prevalent in individuals with @DISEASE$ than individuals with intellectual disabilities (ID) not associated with Down syndrome.	has_symptom
+151fa1c669c71346f0ab00b442f695b8b465be23	Studies report that @PHENOTYPICFEATURE$ is more prevalent in individuals with Down syndrome than individuals with intellectual disabilities (ID) not associated with @DISEASE$.	has_symptom
+4d9dcd31f1e1a7026bd3158aa0e294a2e8e02018	The prevalence of @PHENOTYPICFEATURE$ in children and young people with @DISEASE$.	has_symptom
+af119f5ad64bfad11328570f9437838abf730ce1	Relationship between @PHENOTYPICFEATURE$ and plantar pressure distribution in youths with @DISEASE$.	has_symptom
+3914171cf7e41b8951414e7099c1dde029765191	@DISEASE$ (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, sensorineural hearing loss, @PHENOTYPICFEATURE$, and psychiatric disorders.	has_symptom
+126e92b43b569966aa00762a78368a5f7e857f76	Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss, urinary tract abnormalities, and psychiatric disorders.	false
+ab97c5506573fedec8f36c2edf761910dcc13d7f	@DISEASE$ (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$, sensorineural hearing loss, urinary tract abnormalities, and psychiatric disorders.	false
+1bdffd1fc720cfb1e515af386896f718a1aee88d	Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as @DISEASE$, diabetes insipidus, @PHENOTYPICFEATURE$, sensorineural hearing loss, urinary tract abnormalities, and psychiatric disorders.	false
+263d897859d5e0a33ca9af5ce259d89b005c0e43	Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, @PHENOTYPICFEATURE$, @DISEASE$, and psychiatric disorders.	false
+98a9f2dd0ea8704f9e3ba330382f939ff15d7cea	Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, @DISEASE$, optic nerve atrophy, @PHENOTYPICFEATURE$, urinary tract abnormalities, and psychiatric disorders.	false
+10d59f1f842990dc870dfa56708d1961153ae814	Wolfram syndrome (WS) is a rare @DISEASE$ described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$, sensorineural hearing loss, urinary tract abnormalities, and psychiatric disorders.	false
+71c9c316a82f29ff5de8c48ab5cdabbbd149b657	Wolfram syndrome (WS) is a rare @DISEASE$ described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, @PHENOTYPICFEATURE$, urinary tract abnormalities, and psychiatric disorders.	false
+17cf7f905a578c924fc1c7b4de910916f1502263	@DISEASE$ (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, optic nerve atrophy, @PHENOTYPICFEATURE$, urinary tract abnormalities, and psychiatric disorders.	false
+25b4a1689913d794cce8a81df64ecfd8a9c803d2	Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and psychiatric disorders.	false
+32c481fe48d4e439f41ab42ddeef9ec2b675adfa	Wolfram syndrome (WS) is a rare genetic disorder described by a pattern of clinical manifestations such as @DISEASE$, diabetes insipidus, optic nerve atrophy, @PHENOTYPICFEATURE$, urinary tract abnormalities, and psychiatric disorders.	false
+b83c4dccd894f8fcf7e2ac55d82d9b818b148b8d	@DISEASE$ (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, @PHENOTYPICFEATURE$, and neurological dysfunction.	has_symptom
+302cbec3a5aaef0183ea92d00adbed5398330e78	Wolfram syndrome (MIM 222300) is characterized by @PHENOTYPICFEATURE$, diabetes mellitus, @DISEASE$, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction.	false
+b09d3ed6290bce6f3aee122ba72606ef783be91a	@DISEASE$ (MIM 222300) is characterized by @PHENOTYPICFEATURE$, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction.	false
+b83d7a3a2243627d5a4c2a4e1455f9192223ca19	Wolfram syndrome (MIM 222300) is characterized by @PHENOTYPICFEATURE$, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, @DISEASE$, and neurological dysfunction.	false
+ba6cbfbae99cfd87969fab28d9bad43bff31491c	Wolfram syndrome (MIM 222300) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction.	false
+668bf177e20f13cfb1071c76737113c51a787c8d	Wolfram syndrome (MIM 222300) is characterized by @PHENOTYPICFEATURE$, diabetes mellitus, diabetes insipidus, neurosensory @DISEASE$, urinary tract abnormalities, and neurological dysfunction.	false
+3ea7c245c03dedd95c6bf24eb89df4a90b3f35b7	@DISEASE$ (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and @PHENOTYPICFEATURE$.	has_symptom
+bb7272625568725451a255c4e998411d60885af2	A patient with @PHENOTYPICFEATURE$ associated with @DISEASE$ was treated by bilateral distraction osteogenesis.	has_symptom
+a28876961cb80e1507669574e4a32c9e26c3d52f	Pierre Robin sequence and @DISEASE$ are both associated with @PHENOTYPICFEATURE$.	has_symptom
+c17d4ed0328998ba11e21af507201d7efef56b08	@DISEASE$ is a rare disorder characterized by several orofacial findings including malar deficiency and @PHENOTYPICFEATURE$.	has_symptom
+3e273077091aa7a502c2a50bcac5890919c8d51e	Nager acrofacial dysostosis is a variant of @DISEASE$ with severe @PHENOTYPICFEATURE$, malar hypoplasia, and radial limb defects.	has_symptom
+26f0ef8ae315c0bd0ad5572f00ae56f0e1e4e0df	Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe @DISEASE$, @PHENOTYPICFEATURE$, and radial limb defects.	false
+66d2cdaa0354975117516f366c3f521e14844102	Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, @PHENOTYPICFEATURE$, and @DISEASE$ limb defects.	false
+f4d71029fd0afb650c4d739dc7c70825458a77ab	Nager acrofacial dysostosis is a variant of @DISEASE$ with severe micrognathia, @PHENOTYPICFEATURE$, and radial limb defects.	false
+e11eb53a692fdd36a344d34c20848a3bbba391be	When the @PHENOTYPICFEATURE$ is evident Franceschetti or Goldenhar syndrome is suspected; otherwise @DISEASE$ is probable.	has_symptom
+e70aeef27695a33f9774b564cef1940773d58e8e	Because of @PHENOTYPICFEATURE$, patients with @DISEASE$ are at high risk for developing obstructive sleep apnea.	has_symptom
+03a1faa987adeb6d9e207001ebb68bc25363a572	@DISEASE$ (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and @PHENOTYPICFEATURE$.	has_symptom
+2179fb8e62a7dcc6e8b2c3ed583105886e3b2bcf	@DISEASE$ (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by @PHENOTYPICFEATURE$, orofacial cleft, and micrognathia.	false
+c022a76601511c0e6dfc7497dc5e1e85d4664913	Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by @PHENOTYPICFEATURE$, orofacial cleft, and @DISEASE$.	false
+6f690ca51109e11d40315e2924c1f399308a21dd	@PHENOTYPICFEATURE$ in both vertical and horizontal dimensions and maxillary retrusion can be found in patients with @DISEASE$, while only mandibular hypoplasia in the horizontal dimension can be found in patients with Pierre Robin sequence.	has_symptom
+4c4fbfcd2cea3887968e24129cf0fbdc2468eec7	Mandibular hypoplasia in both vertical and horizontal dimensions and maxillary retrusion can be found in patients with @DISEASE$, while only @PHENOTYPICFEATURE$ in the horizontal dimension can be found in patients with Pierre Robin sequence.	has_symptom
+8402259274e1a30d99b04ea87726372bd6b6cce8	@PHENOTYPICFEATURE$ is a hallmark of @DISEASE$ (TCS), and its severity accounts for significant functional morbidity.	has_symptom
+c8bb28254c5236c43533737e9ea302ae550ec9a0	@DISEASE$ (TC) and Pierre Robin sequence (RS) are associated with @PHENOTYPICFEATURE$, glossoptosis, and consequent airway obstruction.	has_symptom
+fe081f617bf5afa94f44589d053a040106314410	Individuals with @DISEASE$ (NF1) are prone to develop optic pathway gliomas that can result in significant @PHENOTYPICFEATURE$.	has_symptom
+7508661a23b854039f23545bb6ad04fab652dd57	To determine whether tumor size is associated with retinal nerve fiber layer (RNFL) thickness, a measure of axonal degeneration and an established biomarker of @PHENOTYPICFEATURE$ in children with optic pathway gliomas (OPGs) secondary to @DISEASE$ (NF1).	has_symptom
+b147b60c63db01c053c365b69fa14e99d1986ed6	To determine whether @PHENOTYPICFEATURE$ size is associated with retinal nerve fiber layer (RNFL) thickness, a measure of axonal degeneration and an established biomarker of @DISEASE$ in children with optic pathway gliomas (OPGs) secondary to neurofibromatosis type 1 (NF1).	false
+e2bab5ccf372b56cf630d31f4f551ca2553169ab	To determine whether @PHENOTYPICFEATURE$ size is associated with retinal nerve fiber layer (RNFL) thickness, a measure of axonal degeneration and an established biomarker of visual impairment in children with @DISEASE$ pathway gliomas (OPGs) secondary to neurofibromatosis type 1 (NF1).	false
+c17d3313035adf95c4943af8e51c3f00ae0e5039	To determine whether @PHENOTYPICFEATURE$ size is associated with retinal nerve fiber layer (RNFL) thickness, a measure of axonal degeneration and an established biomarker of visual impairment in children with optic pathway gliomas (OPGs) secondary to @DISEASE$ (NF1).	false
+97dcfe186fe6ac4a375948bae731b8a47676be65	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and intellectual disability.	has_symptom
+bff3c2d41ba2a0ee8d98900ccfda738585dc62dd	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive cerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$, and intellectual disability.	false
+64f5e02e8c77dd2f6c49e2df3459e349946dcdc4	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @DISEASE$, nonprogressive @PHENOTYPICFEATURE$, and intellectual disability.	false
+52271915764122aa0f9b93e9b15e589551d1cecb	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive @DISEASE$, nonprogressive ataxia, and @PHENOTYPICFEATURE$.	false
+c17e12cab2217f4fd8ddd6baa0f3ab938c86c5cc	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and @PHENOTYPICFEATURE$.	false
+2ae976aeae528cf79d9fc6d79017d16c2e2cefae	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$, and intellectual disability.	false
+c35dc00eae32c324bf9609bace470a6be84e9b90	@DISEASE$ (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and @PHENOTYPICFEATURE$.	false
+63cc063cf860c7ec2c2aa5c04ade2fea91a9fafa	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, @PHENOTYPICFEATURE$, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and @DISEASE$ (related to the RASA1 mutation).	has_symptom
+c74c778f3136457d64e033cb2c0061af04c37a07	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (@PHENOTYPICFEATURE$, hemangioma, @DISEASE$ anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation).	false
+392e2fa6dcdbdf3dce9879de7d69db3d95497706	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (@PHENOTYPICFEATURE$, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and @DISEASE$ (related to the RASA1 mutation).	false
+d263e369f411d3d0110b0a6a14b091b09d27c47a	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (@PHENOTYPICFEATURE$, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), @DISEASE$, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation).	false
+c596ce8966f774365da67964179b049334b4c39d	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (@PHENOTYPICFEATURE$, hemangioma, arterial anomalies, @DISEASE$, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation).	false
+c6b1a55bfd177c9535897b995539cd861d5e2ea1	Additionally, children with CNS @DISEASE$ often have associated broader vascular conditions, e.g., PHACES (@PHENOTYPICFEATURE$, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation).	false
+2c336807bb40cdc27dc99beddad0d362b7a33e12	The patients were divided into three groups: isolated @PHENOTYPICFEATURE$, microphthalmia associated with micro-orbitism, and complex @DISEASE$.	has_symptom
+d17ff66f546f4f43b6cc30d163db0640842693a7	The patients were divided into three groups: isolated microphthalmia, @PHENOTYPICFEATURE$ associated with micro-orbitism, and complex @DISEASE$.	has_symptom
+7acf55bce4867b944a13496dce6b233dfa0bfb90	Lenz @DISEASE$ is an X-linked recessive disorder characterized by @PHENOTYPICFEATURE$ and dental, urogenital, and skeletal anomalies.	has_symptom
+d74425adcbc7554914567b387c49652a8aecbd11	Lenz @DISEASE$ is an X-linked recessive disorder characterized by microphthalmia and dental, urogenital, and @PHENOTYPICFEATURE$.	false
+898071426e1e4acb922e63e20e652bdea6cc3fa2	Lenz microphthalmia syndrome is an X-linked recessive disorder characterized by @DISEASE$ and dental, urogenital, and @PHENOTYPICFEATURE$.	false
+63e815414c3834f3ae8387807ff853d1f9460fea	Lenz @DISEASE$ is inherited in an X-linked recessive pattern comprising @PHENOTYPICFEATURE$/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).	has_symptom
+65d9a11cb63f0072908ad56c986f42b6034d5bf7	Lenz @DISEASE$ is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: @PHENOTYPICFEATURE$ with associated anomalies (MAA)).	has_symptom
+4229a1e260090b55956602da4289e587f1671919	Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, malformed ears, digital, skeletal, and urogenital anomalies (synonym: @DISEASE$ with associated anomalies (MAA)).	false
+8f96d53c61e2f71e4186604bd5c9a4bb66a603bd	Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising @DISEASE$/anophthalmia, @PHENOTYPICFEATURE$, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).	false
+b8da0bf1059ce640fd9939ef2fa08fa80950dcae	Lenz @DISEASE$ is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).	false
+223e9402fb0fee684e48bd4a258885de9972e8f9	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of @PHENOTYPICFEATURE$.	has_symptom
+19ba67e2a4e5188a9503f289f9c51b31c06a214d	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, @PHENOTYPICFEATURE$, and skeletal anomalies, but not the key feature of @DISEASE$.	false
+043a51fc9d00d6518f5c32fd1fe7b9b093f834f2	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, microcephaly, and @PHENOTYPICFEATURE$, but not the key feature of microphthalmia.	false
+8002b57844c5ea4f81b94f49b00843a84f0c4171	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and @PHENOTYPICFEATURE$, but not the key feature of @DISEASE$.	false
+8df8c0cc925d54586919058b4f3baeecd3d18aab	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, @PHENOTYPICFEATURE$, and skeletal anomalies, but not the key feature of microphthalmia.	false
+10a5cfb534ba5049e18bc27f5a4aa33cb356f753	Lenz @DISEASE$ comprises @PHENOTYPICFEATURE$ with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.	has_symptom
+5ff3e3e0350dd2a4642fa3bee6d0d22ec8818bf8	Lenz @DISEASE$ comprises microphthalmia with mental retardation, malformed ears, @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+663cec2c0188c5d692cd7c6b6d92e7bc6f2b385c	Lenz @DISEASE$ comprises microphthalmia with @PHENOTYPICFEATURE$, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+947d8d07db0957394c1d335bf6d74f07376105f4	Lenz microphthalmia syndrome comprises @DISEASE$ with @PHENOTYPICFEATURE$, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+cbddeae020a902f9f611ed2dd778cefb65e686a3	Lenz microphthalmia syndrome comprises @DISEASE$ with mental retardation, malformed ears, @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+e492fc50e57e3531c4e07e2bcc9c24d3f88af32d	Lenz @DISEASE$ comprises @PHENOTYPICFEATURE$-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern.	has_symptom
+2ee2ede110f998c0f813e06f20fab88239525584	Lenz @DISEASE$ comprises microphthalmia-anophthalmia with @PHENOTYPICFEATURE$, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+9f86a696b0de03018922c6c213f2908c649f02d9	Lenz @DISEASE$ comprises microphthalmia-anophthalmia with mental retardation, malformed ears and @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+6d4cfa0813e16fbfbc6d022e58ce073917aec4ae	Lenz microphthalmia syndrome comprises @DISEASE$-anophthalmia with @PHENOTYPICFEATURE$, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+bb9f5248aaa2bd795a11d99252284c34b82f8a58	Lenz microphthalmia syndrome comprises @DISEASE$-anophthalmia with mental retardation, malformed ears and @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+3369f8c270dea36e792ebe165c4ffb913d89cb2a	Lenz @DISEASE$ is an extremely rare inherited disorder, characterized by unilateral or bilateral @PHENOTYPICFEATURE$.	has_symptom
+67a3da0cc29d3600621205d1f2b151afe69a9125	Lenz @DISEASE$ (LMS) is a genetically heterogeneous X-linked disorder characterised by @PHENOTYPICFEATURE$/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth.	has_symptom
+9472c2495f8eeb79fad918498bbd32e32b49fa31	Lenz microphthalmia syndrome (@DISEASE$) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+10b9bc0aa5185e6812c459af7d5674ee0bdbe5fb	Lenz @DISEASE$ (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+17e29acb37595b001e637e8384ddfc8e312ba4e4	Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by @DISEASE$/anophthalmia, @PHENOTYPICFEATURE$, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+86759651627f9bf25a7f86653e3a5c72218c4b62	To evaluate the practical use of the mandibular advancement device (@DISEASE$) for treatment of sleep apnoea (SA) in patients with @PHENOTYPICFEATURE$ (CHF) over 1 year.	has_symptom
+0a2de666111b5feb708adae3e2826de15adb1842	The aim of the present study was to investigate the effect of a mandibular advancement device (@DISEASE$) for the treatment of sleep apnea (SA) on plasma brain natriuretic peptide (BNP), left ventricular ejection fraction (LVEF), and health-related qualify of life (HRQL) in patients with mild to moderate stable @PHENOTYPICFEATURE$ (CHF).	has_symptom
+0f8c1fc752105ee1ae0af076006da0014f83fb7c	Gaze nystagmus, external ophthalmoparesis, amyotrophy, and @PHENOTYPICFEATURE$ are common in both @DISEASE$ and Machado-Joseph disease (MJD).	has_symptom
+97762f018e2f8e0a0435f14a576582a0d7f517bf	Generally, @DISEASE$ shows hyperreflexia, @PHENOTYPICFEATURE$, and terminal slow saccade.	has_symptom
+340769338bdad2fb27773ec4f6b757e508c28962	The telerehabilitation application described in this study provides evidence for the delivery of online assessment for the @PHENOTYPICFEATURE$ disorder associated with @DISEASE$.	has_symptom
+52604cc67e501277462824bfc59108f5973fabcc	@PHENOTYPICFEATURE$ and dysphagia are known to occur in parkinsonian syndromes such as @DISEASE$ (PD), dementia with Lewy bodies (DLB), corticobasal degeneration (CBD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP).	has_symptom
+b883b7e811979853f0ddb0e06322cea9ec2da446	The current study investigated the processes responsible for selection of sounds and syllables during production of speech sequences in 10 adults with hypokinetic dysarthria from @DISEASE$, five adults with ataxic @PHENOTYPICFEATURE$, and 14 healthy control speakers.	has_symptom
+41dcc08db96e38ac916aa5c2d602b93bf23cd4a3	The current study investigated the processes responsible for selection of sounds and syllables during production of speech sequences in 10 adults with hypokinetic dysarthria from @DISEASE$, five adults with @PHENOTYPICFEATURE$ dysarthria, and 14 healthy control speakers.	false
+c12f252bdcc02ca27f8451dfac6efae790f891c3	The current study investigated the processes responsible for selection of sounds and syllables during production of speech sequences in 10 adults with hypokinetic dysarthria from Parkinson's disease, five adults with @PHENOTYPICFEATURE$ @DISEASE$, and 14 healthy control speakers.	false
+b7d9bbba115c06b85e9da2d516d3b1821f588b8b	This study compared the intonation patterns of unimpaired participants (CON) and those with @DISEASE$ (PD), ataxic @PHENOTYPICFEATURE$ (AT), and foreign accent syndrome (FAS) to evaluate the approach's potential for distinguishing types of MSDs from each other and from unimpaired speech.	has_symptom
+d8cc2649e2acf3b1d223edaacf392a246cb0f531	This study compared the intonation patterns of unimpaired participants (CON) and those with @DISEASE$ (PD), @PHENOTYPICFEATURE$ dysarthria (AT), and foreign accent syndrome (FAS) to evaluate the approach's potential for distinguishing types of MSDs from each other and from unimpaired speech.	false
+32617c7857be2f55d9873940a827628f2776d30f	This study compared the intonation patterns of unimpaired participants (CON) and those with Parkinson's disease (PD), @PHENOTYPICFEATURE$ @DISEASE$ (AT), and foreign accent syndrome (FAS) to evaluate the approach's potential for distinguishing types of MSDs from each other and from unimpaired speech.	false
+52992941f8c9217347f712323e8e9c2c98ef055b	@PHENOTYPICFEATURE$ and Quality of Life in neurologically healthy elderly and patients with @DISEASE$.	has_symptom
+55723fa3e9809dd20f37cbbd04c3e072a5df753a	The study included 8 speakers with ataxic @PHENOTYPICFEATURE$ (AD), 16 speakers with hypokinetic dysarthria (HD) as a result of @DISEASE$, and 24 unimpaired control participants.	has_symptom
+383a8952e0efd4761ec4bb64a88db8c027f44ccd	The study included 8 speakers with @PHENOTYPICFEATURE$ @DISEASE$ (AD), 16 speakers with hypokinetic dysarthria (HD) as a result of Parkinson's disease, and 24 unimpaired control participants.	false
+90d1df9af654f2be73ef777ada0fd32e126f9985	The study included 8 speakers with @PHENOTYPICFEATURE$ dysarthria (AD), 16 speakers with hypokinetic dysarthria (HD) as a result of @DISEASE$, and 24 unimpaired control participants.	false
+d5accf8457de3f2ed1aa0836e9cd14f79427750b	In the present study of 33 children with @DISEASE$, 21% were diagnosed with CAS, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed CAS-dysarthria.	has_symptom
+b5b07e1ff68da5ba7941b8846fc046c4be77f8ae	In the present study of 33 children with @DISEASE$, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	false
+62a69caba08f3f9f2ad644949e5ce17e8094e098	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	false
+cf2e746616e5ba90cf6c49462cd1a9f3c465b809	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed @DISEASE$-dysarthria.	false
+9a3d26bbadfe82efb170b502b41f7d6b606f6521	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ @DISEASE$, and 3% with mixed CAS-dysarthria.	false
+322e139923e8b2dca2e98f8d61a422d77bda3741	A 20-year-old woman with @DISEASE$ presented with severe bilateral @PHENOTYPICFEATURE$.	has_symptom
+d0ee574966f7acbd2861035ab936250af17c3878	The main clinical features of @DISEASE$ are vitreous syneresis, thickening and incomplete separation of the posterior hyaloid membrane, chorioretinal changes accompanied by subnormal electroretinographic responses, an ectopic fovea and early-onset @PHENOTYPICFEATURE$.	has_symptom
+e348dbc5557677d2ef8857cff1f3e12f3a72362e	Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes @PHENOTYPICFEATURE$ and retinal detachment: evidence for molecular heterogeneity in the @DISEASE$ and the Stickler syndrome (arthro-ophthalmopathy)	has_symptom
+99fe505fdecfbd022ef85da42428e4733f558e3c	@DISEASE$ is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and @PHENOTYPICFEATURE$.	has_symptom
+1845dd2f4091259398a51a2dc7b7ca534070c0f9	@DISEASE$ (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as @PHENOTYPICFEATURE$.	has_symptom
+67a1b8329dd38bdd1e62e396b8f1a5756164decc	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and @DISEASE$, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as @PHENOTYPICFEATURE$.	has_symptom
+1e41ce51e9577a237763492715d1185f8d1c8a0b	@DISEASE$ (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal @PHENOTYPICFEATURE$ such as syndactyly.	false
+c794abf28f0c3cbf40d263375c1070e6a6a387ff	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal @PHENOTYPICFEATURE$ such as @DISEASE$.	false
+1e546ccd2b6a663d5106a092954f958ea5e4ad81	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-@DISEASE$ that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal @PHENOTYPICFEATURE$ such as syndactyly.	false
+5c009f3ed83fe8eeee4526fef0f6e98ad99cd697	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and @DISEASE$, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal @PHENOTYPICFEATURE$ such as syndactyly.	false
+58d08dec9cbbe5a7429edb1d6fff2196137dff4c	The patient reported herein presented @DISEASE$ characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @PHENOTYPICFEATURE$, and body asymmetry.	has_symptom
+3275686a0414f44ea4b4945f86965798fdf861e1	The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial @DISEASE$, syndactyly, and body asymmetry.	false
+a18ab4e331e599e4979f07fdcd4515826d8d85b5	The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @DISEASE$, and body asymmetry.	false
+d3cda6f134479159c2b3383acfd88436bc7eb9e6	The patient reported herein presented @DISEASE$ characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry.	false
+112cac81b46b56cbab1c1ceac5b90d30814b9a1d	The patient reported herein presented @DISEASE$ characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @PHENOTYPICFEATURE$ and asymmetry.	has_symptom
+019d32c0bd631b62060697748a254eb6138cecc6	The patient reported herein presented @DISEASE$ characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry.	false
+a684541e9c9cb346c244b8aff36306e575f28a9f	The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @DISEASE$ and asymmetry.	false
+bc79d7f44906851dcb0fc45987ff950ce078c0d8	The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial @DISEASE$, syndactyly and asymmetry.	false
+72007a529de561d0758b8ef522e8efa7984b262d	@DISEASE$ is a well established potential fatal infection characterized by @PHENOTYPICFEATURE$, headache, petechial rash, and vomiting in the majority of cases.	has_symptom
+65d767e03bf2ce5b5331b0bd8fb06526eed3ab43	P = 0.182).For 6 diseases of type I which represent the lower incidence, including epidemic hemorrhagic @PHENOTYPICFEATURE$,Japanese encephalitis, dengue, @DISEASE$, typhus, leptospirosis, the sensitivity was 100% for both models (8/8, 8/8), and the false alarm rate of both temporal model and temporal-spatial model was 0.07% (954/1 367 437, 900/1 367 437), with the median time for detection being 2.5 days and 3.0 days respectively.	has_symptom
+94f95d72283d52302cdabcb25b76b5c52dc344af	The recent changes concern the schedule of injections: primovaccination DTCaPolio of children and boosters for adults, accelerated schedule of Japanese encephalitis and hepatitis B immunization, preexposure rabies immunization and vaccination against yellow @PHENOTYPICFEATURE$; and the indications of poliomyelitis vaccine, immunization of children against Japanese encephalitis and conjugated vaccines against @DISEASE$.	has_symptom
+12f381070cb88d8aa0e11ac7ecb7adbd28752d7c	A 44-year-old man with a history of presumed @DISEASE$ 32 years before, presented with a three-month illness, characterized by @PHENOTYPICFEATURE$, 13.5-kg (30-lb) weight loss, occipital headache, shoulder pain, and muscle weakness, which had been diagnosed as "polymyositis" and treated accordingly.	has_symptom
+10415d706e0c6afb6c802230f977ded77579e37d	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial @PHENOTYPICFEATURE$ with secondary @DISEASE$ hypomagnesemia with hypocalciuria, and autosomal recessive hypomagnesemia.	has_symptom
+90c7db5573da1d42ad8c01df13353f0be03f9fdd	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary @DISEASE$ @PHENOTYPICFEATURE$ with hypocalciuria, and autosomal recessive hypomagnesemia.	has_symptom
+2002ba9dbbcc44f5577d57f34c7c1f4fd22d4b88	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary @DISEASE$ hypomagnesemia with hypocalciuria, and autosomal recessive hypomagnesemia.	has_symptom
+bbdd0a55f9ecc099d599a7cfbda0e4b9ab355a34	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary @DISEASE$ hypomagnesemia with hypocalciuria, and autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+d9391587cf504a1c2dc283cf14479b17615d57da	Bartter syndrome, Dent's disease, @DISEASE$ hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	has_symptom
+bffbef1dafabe6f8aaa0ce5ee3d2ee6ab567d457	Bartter syndrome, Dent's disease, @DISEASE$ @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+159198af16f57882d8aed80c81b737c41b66c91f	Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @DISEASE$ with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+1c5b2cf6074a9bae482e084a19b54710fe472de9	Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with @DISEASE$, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+cb860c542966fbc68a9e12f2f7bd27736be8f826	@DISEASE$, Dent's disease, autosomal dominant hypocalcemic @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+054731b08114c5d9774fa401385ee83cce44c7f8	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, @DISEASE$ hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	has_symptom
+24aedcfbc5c1c67700b6a50da2a3f19b95fd2ba6	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, @DISEASE$ @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+5466f12a250cf9591eae42b77545172803bde14e	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, @DISEASE$, Dent's disease, autosomal dominant hypocalcemic @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+c0761a7beb22daea7c8a965cf35096ca0c62f1e5	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with @DISEASE$, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+e9287c1d6f5407cc1c5528c3dd3db1435d5e00b1	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @DISEASE$ with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+9f38fb88ed4e3c80344f0624b3fa32c33c4f881c	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the @DISEASE$ region into the SMS region, and two microdeletions including a terminal deletion of 17p.	has_symptom
+182f0ee57f0e952faaf489d28d2764625a8a7540	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+d3ecc2318cdc772ea58520c93972ce54d629e59e	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild @PHENOTYPICFEATURE$, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the @DISEASE$ region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+98b08159b026a9c4840968b2efa57005f384e0e7	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @DISEASE$, coronal synostosis, mild @PHENOTYPICFEATURE$, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+67681cde587c7384242730567abf43f65cf3f283	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild @PHENOTYPICFEATURE$, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+9c386139473ed38eaed5fe7ac31b037a49cbc475	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the @DISEASE$ region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+caa097e8d81418746afc4d924324a0fddff27a52	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @DISEASE$, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+e936be6fed298a3d076dadfbbf3509a109ef320b	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+7d18fbf248850cee7a765ce9aba181a0ab3dc420	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild @PHENOTYPICFEATURE$, and bilateral club feet, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+53b8ba9b306af2b1d3422b18febcc74c2107cfbc	We describe a case of acquired monosomy 7 myelodysplastic syndrome (@DISEASE$) in a boy with congenital adrenocortical insufficiency, genital anomalies, @PHENOTYPICFEATURE$, skin hyperpigmentation, and chronic lung disease.	has_symptom
+ce9145d5f77a4accdb88a4a5adf5bd88d2d68773	We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, @PHENOTYPICFEATURE$, growth delay, skin hyperpigmentation, and chronic @DISEASE$.	false
+6eee56f90c5020ab064feb6ce78d316fcb014b61	We describe a case of acquired monosomy 7 myelodysplastic syndrome (@DISEASE$) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+bb4d050383c452b72851df3f4fb25ccfcc469d29	We describe a case of acquired monosomy 7 @DISEASE$ (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+390059a852ef945763bb04217ef4e4d8ca7f4941	We describe a case of acquired monosomy 7 myelodysplastic syndrome (@DISEASE$) in a boy with congenital adrenocortical insufficiency, @PHENOTYPICFEATURE$, growth delay, skin hyperpigmentation, and chronic lung disease.	false
+3e10695689a356674d5253c9ee18b2badc224070	We describe a case of acquired @DISEASE$ 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+bcdf24099b3068be08ceccd6e72b4f376e108812	We describe a case of acquired @DISEASE$ 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, @PHENOTYPICFEATURE$, growth delay, skin hyperpigmentation, and chronic lung disease.	false
+7cd9233dc7e878d53ca9ea3912847295626014fb	We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital @DISEASE$, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+2355b8e86ddc91526018f5972236864a2a97a428	We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic @DISEASE$.	false
+e4c2da03b0a9964eee5494f5c22f38cebbdb0d1c	We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, @PHENOTYPICFEATURE$, @DISEASE$, skin hyperpigmentation, and chronic lung disease.	false
+dd74aab1306ee276c8949f06f63d522f44b017a4	We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital @DISEASE$, @PHENOTYPICFEATURE$, growth delay, skin hyperpigmentation, and chronic lung disease.	false
+c37158789d94d26e9f1979a4e2c4de75c596f10a	We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, @DISEASE$, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+21fd743e236f9334ee18327921586e6afaf630ab	We describe a case of acquired monosomy 7 @DISEASE$ (MDS) in a boy with congenital adrenocortical insufficiency, @PHENOTYPICFEATURE$, growth delay, skin hyperpigmentation, and chronic lung disease.	false
+8cee9f4e3ea049c6877a329f90e24341ecec4194	This child also had symptoms of the @DISEASE$, consisting of lissencephaly, characteristic facies, pre- and post-natal @PHENOTYPICFEATURE$ and other birth defects.	has_symptom
+648ee3e56b3f7d52653bd8d881303d94ad178b19	Trigonomicrocephaly, severe @PHENOTYPICFEATURE$, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple caf?-au-lait spots: new @DISEASE$ syndrome?	has_symptom
+a625352def37e1f259c0a585e480613f3ae4635a	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @PHENOTYPICFEATURE$, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	has_symptom
+8b0d40322553fa142332400ce9b765689572b204	Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @DISEASE$, flattened supraorbital ridges and nasal bridge, cleft palate, and @PHENOTYPICFEATURE$.	false
+02687a018a64a7f6a65f2a83a2e903728caa520c	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, @PHENOTYPICFEATURE$, and micrognathia.	false
+7a0f6ef7692a916c3ab07b4709ae16e5dc4f42ec	Campomelic dysplasia (CD) is a rare form of @PHENOTYPICFEATURE$ (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @DISEASE$, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	false
+830aca7e477f8b7fd8489a6b2a56074d6040afda	Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @DISEASE$, flattened supraorbital ridges and nasal bridge, @PHENOTYPICFEATURE$, and micrognathia.	false
+341627f35538a3c3c3c516f4e74050727d5cb690	@DISEASE$ (CD) is a rare form of @PHENOTYPICFEATURE$ (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	false
+6ca4f4246e6440c696bd45ba955d8cd8eb9fc210	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and @PHENOTYPICFEATURE$.	false
+05732672fb1e12ed68b5ac0bd87a18cb2ad561e2	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in @DISEASE$-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, @PHENOTYPICFEATURE$, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	has_symptom
+0bbe27c54aeb496f0e59fc7dfaae7c2faa8fcdcb	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in @DISEASE$-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, @PHENOTYPICFEATURE$, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+52d929b715beaf60743a1653126cd304d5a7a4bb	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+639d394502a07e960bdc496989da25971af4eee7	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a @DISEASE$ in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+15c7000c8d6902d2c6ace2728636113bec9142fc	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in @DISEASE$-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+6ef57b5c1f03e80597db25f9d0c8e07ee214824e	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, @DISEASE$, @PHENOTYPICFEATURE$, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+c82a472d8133172b349a6dbc2f2dc3441357a70c	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative @DISEASE$ characterized by @PHENOTYPICFEATURE$, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+7fed489f6ebe1fad01237a3fa29cd0f8bc7cbb3f	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a @DISEASE$ in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, @PHENOTYPICFEATURE$, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+49e713ecfe4ee1d70e33b1d19ddceb36fc24ab73	Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative @DISEASE$ characterized by epileptic seizures, developmental regression, @PHENOTYPICFEATURE$, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease").	false
+d3bd52d93ef8be59102673f022bf0243994bb282	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive @PHENOTYPICFEATURE$.	has_symptom
+2a5f5c02242fee47ee3e1de9388d613b0172b698	X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, @PHENOTYPICFEATURE$, and progressive @DISEASE$.	false
+b6914edbc666cbfe7a775125abd08a1a57249d82	X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset @PHENOTYPICFEATURE$, peripheral neuropathy, and progressive @DISEASE$.	false
+73c835cda0118ec23184c739b05d96cf3b538312	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset @PHENOTYPICFEATURE$, peripheral neuropathy, and progressive optic atrophy.	false
+11310c85ab6dfdc61584e08ea26b1a7c88e6a041	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, @PHENOTYPICFEATURE$, and progressive optic atrophy.	false
+000d6ab0e39d42a6326e8016d14f0b8cd5791ef6	We reviewed the records of 485 boys with childhood ALD, determined those with acute presentation, and classified them as @DISEASE$, @PHENOTYPICFEATURE$, or encephalopathy.	has_symptom
+cc53f50a0ecb5dd6988da76194cad9cddf015497	Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, @DISEASE$, @PHENOTYPICFEATURE$, and sudden death.	has_symptom
+e17207c0576d72284aff474289157243041fca3a	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident @PHENOTYPICFEATURE$, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	has_symptom
+eeb4d526ad415cbfb3013864d834f78aa3c7fd8b	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, heart failure and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, @PHENOTYPICFEATURE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+5aadea36bbdd97281249ea26da92713bf107c2f6	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+df69e5f1ced110b297d46d8de5939fca268223f5	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident @DISEASE$, @PHENOTYPICFEATURE$, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+49de6539135246aa1d70870a8dfb3757a18c9089	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+4f57087304b004d889568f6ef6658af45dbc82e7	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, heart failure and acute pulmonary edema, cerebrovascular accident seizures, @PHENOTYPICFEATURE$, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+713469ed8330d51ed0938569b3e335f17ba6f7ab	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident @DISEASE$, hyperglycemia, @PHENOTYPICFEATURE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+f9329e814c4ab098a9378c16e2a00e16ea80cef0	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident seizures, @PHENOTYPICFEATURE$, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+6a14df0f29e5dd8cb800f7049508d01f9ee2b717	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, @PHENOTYPICFEATURE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+6c3cdb9a9882f3cfab91e6671cf71446637f0ac4	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+b5a31b4b91d7fc5a08950e8556bb06b5251f0237	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident @DISEASE$, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+7dc79848dc977c7585ca03eb6aeaba056f8f2aea	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident @DISEASE$, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+2fc48e1a2d78f4a053f9a559476108b0457e9a8b	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+20543504ada5c84725549126d71f63077b83677a	Hypoglycaemic @PHENOTYPICFEATURE$ and neonatal @DISEASE$ after maternal exposure to prednisone during pregnancy: a case report.	has_symptom
+97ab5d2e8f5b19821c4f08efae6d28a3ecd6e781	@PHENOTYPICFEATURE$ seizure and neonatal @DISEASE$ after maternal exposure to prednisone during pregnancy: a case report.	false
+4577dcb01914a9d7ec6f26258a4f60d458d29de5	@PHENOTYPICFEATURE$ @DISEASE$ and neonatal acute adrenal insufficiency after maternal exposure to prednisone during pregnancy: a case report.	false
+4ba48eb440abe7c1792dffdc41b50f3a2f448d6e	This child presented in @DISEASE$, as evidenced by severe hypoglycemia and @PHENOTYPICFEATURE$, I day after receiving the influenza vaccine.	has_symptom
+e49d4330fea03e331272b1c481b7cd350de879f8	Endocrinological emergencies in childhood include tetany - also in the form of epileptiform @PHENOTYPICFEATURE$ - and @DISEASE$.	has_symptom
+8e1be34650a5da8149a6d0808baf37e532ac9117	In the current study, we investigate this phenomenon in the context of two patients with peripheral @PHENOTYPICFEATURE$ and a third with visual disorientation consequent to bilateral @DISEASE$.	has_symptom
+57b43f2e46a18b95ac30cf6c35d0c9c7d34a78ea	@DISEASE$ (PCA) is a type of dementia that is characterized by visuo-spatial and memory deficits, @PHENOTYPICFEATURE$ and dysgraphia, relatively early onset and preserved insight.	has_symptom
+8f442bce1b8b4580071e0ecc494de9c828a8137f	@DISEASE$ (RDD) is typically characterized by painless bilateral and symmetrical cervical lymphadenopathy, with associated @PHENOTYPICFEATURE$ and leukocytosis.	has_symptom
+8d74cfde06313b5cf3619425afffe43d6d0e3d92	Sinus histiocytosis with massive lymphadenopathy or @DISEASE$ is a rare clinicopathological entity that typically affects young adults, with patients presenting frequently with @PHENOTYPICFEATURE$ and painless cervical adenopathy.	has_symptom
+62239a4714809f4fd29736deac86354a4d9d5562	@DISEASE$ or Rosai-Dorfman disease is a rare clinicopathological entity that typically affects young adults, with patients presenting frequently with @PHENOTYPICFEATURE$ and painless cervical adenopathy.	has_symptom
+b3557c50e9324cb5086db62e55c48cdafbdb0383	@DISEASE$ (RDD) predominantly affects cervical lymph nodes and presents with @PHENOTYPICFEATURE$ and pancytopenia.	has_symptom
+4ab14e0bac725e7648f2d9cf70a8e436e7465f59	Sinus histiocytosis with massive lymphadenopathy (@DISEASE$) is a nonneoplastic lymphoproliferative disorder that usually presents with massive painless cervical lymphadenopathy accompanied by @PHENOTYPICFEATURE$ and weight loss.	has_symptom
+088ed9a26bf7a58311493ffaa522cc84d3f25db4	@DISEASE$ (Rosai-Dorfman disease) is a nonneoplastic lymphoproliferative disorder that usually presents with massive painless cervical lymphadenopathy accompanied by @PHENOTYPICFEATURE$ and weight loss.	has_symptom
+0bb6b7c70b6672b646dd8950579335094663f8df	@DISEASE$ is an idiopathic histocytic proliferative disorder typically characterized by painless cervical adenopathy, @PHENOTYPICFEATURE$, and weight loss.	has_symptom
+09f996638f1da2e0e7da9dfefb2979baa6d595ad	@DISEASE$ was commonly characterized as massive, painless, bilateral, symmetric cervical lymphadenopathy, with @PHENOTYPICFEATURE$, leukocytosis, and elevated sedimentation rate.	has_symptom
+a8f894145bd9e4dfd64485e8595e1b3ced2fd1b2	Also known as @DISEASE$, it typically presents as painless cervical lymphadenopathy with @PHENOTYPICFEATURE$ and malaise.	has_symptom
+027ba0cc2c01bc5c66843ec440a6518ac9a488a1	@DISEASE$, or sinus histiocytosis with massive lymphadenopathy, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated @PHENOTYPICFEATURE$ and weight loss.	has_symptom
+000e214a8749a59c655ab526614f2d12f10591bf	Rosai-Dorfman disease, or @DISEASE$, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated @PHENOTYPICFEATURE$ and weight loss.	has_symptom
+f64f6349a9384b8eacbe439e42fb0980c1419ec8	Rosai-Dorfman disease, or sinus histiocytosis with massive lymphadenopathy, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated @DISEASE$ and @PHENOTYPICFEATURE$.	false
+62af86bc80988974c51766904e10cecd77a5ed55	@DISEASE$, or sinus histiocytosis with massive lymphadenopathy, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated fever and @PHENOTYPICFEATURE$.	false
+306bef430f74610a540fe752d7aee3961a327693	Rosai-Dorfman disease, or sinus histiocytosis with massive lymphadenopathy, is a rare, benign, @DISEASE$ that commonly manifests as a massive painless cervical lymphadenopathy with associated fever and @PHENOTYPICFEATURE$.	false
+99c9eddbea424be3fff7019e1b9353d009f6bd82	Rosai-Dorfman disease, or @DISEASE$, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated fever and @PHENOTYPICFEATURE$.	false
+c09dbd56712490408e6b1e4cfa3f961467401547	@DISEASE$ (SHML), or Rosai-Dorfman Disease, presents with bilateral painless cervical adenomegaly, @PHENOTYPICFEATURE$, and several hematologic abnormalities.	has_symptom
+d42fd40c8d906174ecafaf1fb51ca64e340b6a56	Sinus histiocytosis with massive lymphadenopathy (SHML) (@DISEASE$) is a rare self-limited histiocytic disorder of unknown origin, usually present with cervical lymphadenopathy, @PHENOTYPICFEATURE$, elevated ESR and haematologic abnormalities.	has_symptom
+6352c20011a6a0af0942083c9b8d61696a3d24a6	@DISEASE$ (SHML) (Rosai-Dorfman disease) is a rare self-limited histiocytic disorder of unknown origin, usually present with cervical lymphadenopathy, @PHENOTYPICFEATURE$, elevated ESR and haematologic abnormalities.	has_symptom
+699e2e909f1f7c65d68facc66c2128d3ff518561	Steroid-cell autoantibodies were present in none of 57 women with isolated premature ovarian failure or premature ovarian failure plus nonadrenal @PHENOTYPICFEATURE$ and in 21 of 24 (87%) women with @DISEASE$-related premature ovarian failure.	has_symptom
+d72557ae1aef585702413d25df7a5a5e73434865	The syndrome consists of primary autoimmune adrenocortical insufficiency (@DISEASE$), @PHENOTYPICFEATURE$ hypothyroidism, and type 1 diabetes.	has_symptom
+599c07665f630e9c1d71ff54e8dcf985f0c7c97e	Partial trisomy 8q and partial monosomy 15q associated with @DISEASE$, diaphragmatic hernia, urinary tract anomalies, @PHENOTYPICFEATURE$ and kyphoscoliosis.	has_symptom
+cb3f17dc3de77bf13713ae60f64e5582c09f2166	Partial trisomy 8q and partial monosomy 15q associated with @DISEASE$, diaphragmatic hernia, @PHENOTYPICFEATURE$, congenital heart defect and kyphoscoliosis.	false
+eb47629a3619888b73ed76d1e3465414206969dc	Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, @PHENOTYPICFEATURE$, @DISEASE$ and kyphoscoliosis.	false
+569de321156669ec783e60186cefb36a064cea24	The five most common birth defects were @PHENOTYPICFEATURE$, limb anomalies, cleft lip/cleft palate, Down syndrome, and @DISEASE$ respectively.	has_symptom
+2c7793ac76958f18bb098912db5e38f1647adeee	The five most common birth defects were @DISEASE$, @PHENOTYPICFEATURE$, cleft lip/cleft palate, Down syndrome, and congenital hydrocephalus respectively.	false
+b49204c0cc0fbf81dd515b27a8cb7bdb4bf2265c	The five most common birth defects were @DISEASE$, limb anomalies, cleft lip/@PHENOTYPICFEATURE$, Down syndrome, and congenital hydrocephalus respectively.	false
+387c68a4447efe1b848d06509ca314b50cfb51ab	The five most common birth defects were congenital heart defects, limb anomalies, @DISEASE$/@PHENOTYPICFEATURE$, Down syndrome, and congenital hydrocephalus respectively.	false
+6e60ba2da323c9f178a624ff62491625b5b126bb	The five most common birth defects were congenital heart defects, limb anomalies, cleft lip/@PHENOTYPICFEATURE$, Down syndrome, and @DISEASE$ respectively.	false
+def556a6e17076015622239541385ee9d6678699	The five most common birth defects were congenital heart defects, @PHENOTYPICFEATURE$, cleft lip/cleft palate, Down syndrome, and @DISEASE$ respectively.	false
+885bcf60c39b320560c78c40f327ccaff79b6aaa	The five most common birth defects were congenital heart defects, @PHENOTYPICFEATURE$, @DISEASE$/cleft palate, Down syndrome, and congenital hydrocephalus respectively.	false
+0e67aacdd1f433328713fe51f7a0997e54472c9b	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, @DISEASE$, some @PHENOTYPICFEATURE$, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, polydactyly and syndactyly.	has_symptom
+046c0a15ac93eba2c69b24cfc6cfdd8e6f3612e2	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, congenital hydrocephalus, some congenital heart defects, @DISEASE$ and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, @PHENOTYPICFEATURE$ and syndactyly.	false
+f2e8f64e8dbc2a0cc945c7401d8707c8bf97c774	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, @DISEASE$, some congenital heart defects, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, polydactyly and @PHENOTYPICFEATURE$.	false
+2c8dd5db23ca1869e1453ed3932e66e6616a52f8	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, congenital hydrocephalus, some @DISEASE$, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, @PHENOTYPICFEATURE$ and syndactyly.	false
+eba87bfd615a5bbcb1779412ec44df16e7439df5	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, @DISEASE$, some congenital heart defects, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, @PHENOTYPICFEATURE$ and syndactyly.	false
+b293c70d38a4682596bc3e1f61c79d58b8a49d8a	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, congenital hydrocephalus, some congenital heart defects, @DISEASE$ and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, polydactyly and @PHENOTYPICFEATURE$.	false
+2c564740a8df51cd69881323bb3f83f97b252e69	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, congenital hydrocephalus, some @DISEASE$, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, polydactyly and @PHENOTYPICFEATURE$.	false
+73fb865bd7bd0cbe8386b2e07106d4fb1710956c	The changes in the former are consistent with those previously described as @DISEASE$ and those in the latter indicate primary developmental abnormalities of the central nervous system including septo-optic dysplasia, absent olfactory nerves, @PHENOTYPICFEATURE$, and lissencephaly.	has_symptom
+b5b07e1ff68da5ba7941b8846fc046c4be77f8ae	In the present study of 33 children with @DISEASE$, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	has_symptom
+585fcdac8f4a667fba65089f96ca3742315467ad	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @DISEASE$ @PHENOTYPICFEATURE$, and 3% with mixed CAS-dysarthria.	false
+1eaea5d1ecc00b4cd3555d5102fc750bfc6936c5	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed @DISEASE$-dysarthria.	false
+b4931f0dc437d37382b048cfb5784f7646da85ac	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed CAS-dysarthria.	false
+d5accf8457de3f2ed1aa0836e9cd14f79427750b	In the present study of 33 children with @DISEASE$, 21% were diagnosed with CAS, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed CAS-dysarthria.	false
+efca79fec282b61cef39109914b43bf6c4f34a31	In @DISEASE$, long-term neurologic sequelae can include low cognitive functioning and a curious neurologic syndrome with tremors, dysmetria, and @PHENOTYPICFEATURE$.	has_symptom
+f7e7f283e8f8e31d635a38c71786012724177ed8	Using deformational posterior plagiocephaly as a control group, rates of divorce vs. non-divorce were compared for craniofacial anomalies, categorized as asymmetric (hemifacial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmetric (syndromic-craniosynostosis, orbital @PHENOTYPICFEATURE$, @DISEASE$).	has_symptom
+797eff0003f20d8704c5c8b2a920a86e8e241ade	Patient diagnoses included facial clefts, @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial dysostoses (Crouzon's and Apert's syndromes).	has_symptom
+d0923efc48632eca78e083f4f6282de6a66fc2f2	Major anomalies (hemifacial microsomia, craniosynostosis, orbital @PHENOTYPICFEATURE$, @DISEASE$) were also compared to minor anomalies (cleft lip, cleft lip/palate).	has_symptom
+f2102080c5b4ba420415cfe33cb3cad35e8657dc	Patient diagnoses included facial clefts, @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial dysostosis (Crouzon's and Apert's syndromes).	has_symptom
+3795267a3f1c43b5f2f6c203ab713827350a98f2	Certain types of deformity, particularly those in patients with orbital @PHENOTYPICFEATURE$, @DISEASE$, or Crouzon's or Apert's syndrome, require more than one operation to achieve maximum correction.	has_symptom
+b46a67921b21c9827ec2f82782f7da18155e0258	We report a 43-year-old woman with @DISEASE$ (TINU syndrome) presented with a 5-day complaint of chills and @PHENOTYPICFEATURE$, anorexia, nausea, and vomiting.	has_symptom
+20b6f4283407536e0416be684d3c8d5a3141ab1b	We report a 43-year-old woman with tubulointerstitial nephritis and uveitis syndrome (@DISEASE$) presented with a 5-day complaint of chills and @PHENOTYPICFEATURE$, anorexia, nausea, and vomiting.	has_symptom
+1aa2f651d7ed37d73c800a7c1e3d6fb3b5e4db4f	We report a 43-year-old woman with tubulointerstitial nephritis and uveitis syndrome (TINU syndrome) presented with a 5-day complaint of chills and @DISEASE$, anorexia, @PHENOTYPICFEATURE$.	false
+f728db1c5466eef9b942db8c968637aab0929101	We report a 43-year-old woman with tubulointerstitial nephritis and uveitis syndrome (@DISEASE$) presented with a 5-day complaint of chills and fever, anorexia, @PHENOTYPICFEATURE$.	false
+8b6030d2e2eaf42f95ce312ad8fa9a1bb0a67d70	We report a 43-year-old woman with @DISEASE$ (TINU syndrome) presented with a 5-day complaint of chills and fever, anorexia, @PHENOTYPICFEATURE$.	false
+0a586bdece54035c78915674ae5f4c3e163c06a1	In addition, L-histidine, the precursor of histamine, affected neither @PHENOTYPICFEATURE$ ranks, nor @DISEASE$.	has_symptom
+12e29b308de894f07d5bff370f3a76d2864f3839	We found that 1.0 g/kg FDP slowed @PHENOTYPICFEATURE$ progression and shortened the corresponding after-discharge duration (@DISEASE$).	has_symptom
+ea48760732e7a3e6e2cc0c2483c9d995cd2177e7	@PHENOTYPICFEATURE$ level and after-discharge duration (@DISEASE$) were analyzed.	has_symptom
+60602bfddfe124a18635113e13a9d922f3da0ec3	@PHENOTYPICFEATURE$ or epilepsy were substantially more common in patients with @DISEASE$ and VD than in dementia-free patients.	has_symptom
+4a9a4c05effab8a0f5b4f8363c23246e2cb7557c	Patients with Alzheimer's disease (@DISEASE$) have an increased risk of developing @PHENOTYPICFEATURE$ or epilepsy.	has_symptom
+9dba62814bb107d0d023ef73c6e6cab31ca4d834	Afterdischarge durations (@DISEASE$) and behavioral @PHENOTYPICFEATURE$ scores (BSS) were recorded following each stimulation.	has_symptom
+f09a16f863391a663538acf7b9f6717e5c0fcf75	As predicted, the control and the TS groups did much better than the @DISEASE$ and @PHENOTYPICFEATURE$ groups.	has_symptom
+72ad67eb6e9269c4c9d4809ec7c3d65a03be3622	Afterdischarge threshold (ADT), afterdischarge duration (@DISEASE$), clinical @PHENOTYPICFEATURE$ severity, and inflammation were compared between groups.	has_symptom
+8cd9d7d5d82d22a6f6abc50d7d893c83218abb15	We found that the progression of @PHENOTYPICFEATURE$ stage and @DISEASE$ was delayed by KD.	has_symptom
+f98b85f5a6ef63688b055a8169b9c639845349d9	We compared @PHENOTYPICFEATURE$ score (0-5) and afterdischarge duration (@DISEASE$) with and without cooling.	has_symptom
+00fa2376af59b338393a28870d8900ed92961fa4	Previously, we found that patients with @DISEASE$ (CAMT), who develop @PHENOTYPICFEATURE$ early after birth, harbor mutations within the thrombopoietin (TPO) receptor, c-MPL.	has_symptom
+d22259fdf6c60c85a5668851d5132944efc750b2	This report describes an unusual case of a middle-aged man who suffered sub-acute @PHENOTYPICFEATURE$ rendering him blind over a period of 4 weeks, associated with the diagnosis of a right temporal lobe World Health Organization grade 4 astrocytoma (@DISEASE$).	has_symptom
+d617baec604bdb42a928aa4e8b034b5fbbccc0a5	1), @DISEASE$ (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, myoclonus and @PHENOTYPICFEATURE$; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	has_symptom
+782a03caedf48195073c25e390c6979695d4ae32	1), fatal familial insomnia (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, @PHENOTYPICFEATURE$ and @DISEASE$; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	false
+eefedb8878cb6d725d82ed344c355acd389c10e3	1), fatal familial insomnia (FFI) is a rare inherited @DISEASE$ characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, @PHENOTYPICFEATURE$ and dementia; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	false
+7605289bc755dccfaa76cb8ec1e87195ffceb6cf	1), @DISEASE$ (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, @PHENOTYPICFEATURE$ and dementia; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	false
+625b7c76f6a718f1ddf82b46696cc3b3cde67996	Pathogenic SLC6A1 variants were recently described in patients with @DISEASE$ (MAE) and @PHENOTYPICFEATURE$ (ID).	has_symptom
+3dd6bf1b1fbebd4ade73870764ec6ef0969ff40a	Mutations in SLC6A1 have been associated mainly with @DISEASE$ (MAE) and @PHENOTYPICFEATURE$.	has_symptom
+d526df15cfcb7fbe9617bcd3d977db1bf7d5dc50	Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with @DISEASE$ (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+4fa51e1b9c6f84d47b09ccc475ffff747b5b2f48	@PHENOTYPICFEATURE$--radial aplasia (TAR) syndrome with associated @DISEASE$.	has_symptom
+75e0cfd70222586ab8d092f0339ff73c78c08a15	It can therefore serve as a good indicator for many diseases like hypoplastic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e49e8591a7a3bd9d23e4f7e62ccbba39fe3a1191	@PHENOTYPICFEATURE$ absent corpus callosum is compared with other conditions characterized by congenital non-@DISEASE$.	has_symptom
+55463717bbb92bcd6343e5c7dfc315b9c5ab90c0	@DISEASE$ @PHENOTYPICFEATURE$ is compared with other conditions characterized by congenital non-immune thrombocytopenia.	false
+ce68f8118a9d8e697c4d1fee3518335eaf50445a	Thrombocytopenia @PHENOTYPICFEATURE$ is compared with other conditions characterized by congenital non-@DISEASE$.	false
+17e661611660a95b11722ca3e6b65ef18093e686	We evaluated measurements of PAIgG, reticulated platelets (RP), plasma thrombopoietin (TPO) levels, and platelet size to determine whether these parameters were useful for the differential diagnosis of @DISEASE$ (ITP), aplastic anemia (AA), and hypoplastic @PHENOTYPICFEATURE$ (HypoT).	has_symptom
+5ef1f678a098216b989f992faba74d17d855c21e	We measured GC and RP levels simultaneously in 39 patients with @DISEASE$ (ITP), 15 patients with aplastic anemia (AA), and 17 patients with hypoplastic @PHENOTYPICFEATURE$ (HypoT) due to chemotherapy.	has_symptom
+0cb6ab646a9903cc137b6d589ddd5065817979a2	Six of the nine women had episodes of @PHENOTYPICFEATURE$ during childhood misdiagnosed as @DISEASE$.	has_symptom
+f4503cc229740c0db1767b1b1f68ad1bde069182	[@PHENOTYPICFEATURE$ attacks in @DISEASE$].	has_symptom
+4172ee0f9c8e79db9e4d14f341d950e1242ad503	We report two sisters having a rare congenital anomaly-@DISEASE$ having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral @PHENOTYPICFEATURE$ optic atrophy, and pulmonary stenosis.	has_symptom
+2aa742789ccb07663380ab2bf809396e8781351a	We report two sisters having a rare congenital anomaly-@DISEASE$ having disproportionate short height, restriction of joint movements, @PHENOTYPICFEATURE$, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.	false
+87d583ef946fd313e195989416db5e48d99c92a6	We report two sisters having a rare @DISEASE$-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, @PHENOTYPICFEATURE$, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.	false
+89e738728f3e5c6287299142f19a5460ceeac70a	We report two sisters having a rare @DISEASE$-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous @PHENOTYPICFEATURE$, and pulmonary stenosis.	false
+3aef4fd5d1b4e06228b2f9ca62126d1f856f1651	We report two sisters having a rare congenital anomaly-@DISEASE$ having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous @PHENOTYPICFEATURE$, and pulmonary stenosis.	false
+8608fa587f5d359448777a2a84c8975892df5d4c	We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, @PHENOTYPICFEATURE$, dislocation of lens, bilateral @DISEASE$ optic atrophy, and pulmonary stenosis.	false
+8d0fa41a7651f4e232d687fe6ffb0f68fce6e717	We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral @DISEASE$ @PHENOTYPICFEATURE$, and pulmonary stenosis.	false
+f85d5b54aeb2bc25dc7f07386c1e4a3138186b0f	@PHENOTYPICFEATURE$-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of @DISEASE$.	has_symptom
+f7b055629aba71f85d0d0b036dfce9985b2298aa	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of @DISEASE$, autosomal dominant @PHENOTYPICFEATURE$-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia.	has_symptom
+b0b55e7562b729581bc7de5d0c07d788bcd79516	It may be isolated or occur as part of a hereditary @DISEASE$, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+362c1d67901bcb6cdfd2b911d0784d0bc3f42cfb	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-@DISEASE$, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+154723d7c23d2b4b79a1055807f62a76550eb9c4	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant @DISEASE$-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+3e3f7ce973bbe2001fb9a307faf64a90fe9f9698	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of @DISEASE$, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+64fcc4b3e8fde46303ee78518e7791711142de54	It may be isolated or occur as part of a hereditary systemic disorder, such as @DISEASE$, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+3eb7012f112818a0612a47f8f50212a3b81d01be	@PHENOTYPICFEATURE$ primary adrenal lymphoma with @DISEASE$.	false
+9b4ed300200db343b02b607ecc77f499bf5b5d3c	@PHENOTYPICFEATURE$ primary adrenal @DISEASE$ with adrenal insufficiency.	false
+deffbfa5e4d884276f10c79190aa78db0d1b0ddc	@DISEASE$ was the most commonly missed @PHENOTYPICFEATURE$ by sonography.	false
+3007e9c4785e5f69d290bf672de6c4b0a9bbb267	The symptoms of primary renal @DISEASE$ (PRL) may mimic a @PHENOTYPICFEATURE$.	false
+a56c391e62bb70d8bc924f50da0e43639645ee4e	Heterozygosity for mutations in the fibrillar collagen gene COL11A1 causes @PHENOTYPICFEATURE$ in patients with @DISEASE$ or Marshall syndrome.	has_symptom
+06ad0dcbd033969c6c05f63c34d7572133eacd73	In contrast to the classic @DISEASE$ (type I) with high myopia, this nonocular type shows a high prevalence of @PHENOTYPICFEATURE$.	has_symptom
+e261c7bd981cdcc5bad553ff64b00361d878b193	The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, @PHENOTYPICFEATURE$, eye defects, and a family history of @DISEASE$.	has_symptom
+840755fde975357c03bee2be7e8c7e81b8b88ab4	The Japanese female patient presented here with @DISEASE$ was characterized by a flat midface and had high myopia, @PHENOTYPICFEATURE$, enlarged joints, and cleft of the soft palate.	has_symptom
+89d1721dd2252281abd04212b54d670949df6e9f	Mutations in the fibrillar collagen genes COL11A1 and COL11A2 can cause @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+057bd77364418765c87c2357e615a907fc24ac90	The overall @PHENOTYPICFEATURE$ in type I @DISEASE$ is typically mild and not significantly progressive.	has_symptom
+10b0ac1126b827e650abb46ea079f0f8d1a56f79	We report here that an autosomal dominant form of @DISEASE$, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and @PHENOTYPICFEATURE$, but no eye involvement, is caused by a splice donor site mutation resulting in "in-frame" exon skipping within the COL11A2 gene, encoding the alpha 2(XI) chain of the quantitatively minor fibrillar collagen XI.	has_symptom
+cb94fad893168a0066202b1b40d8c8773f7dae86	@DISEASE$ (CAMT) without physical anomalies is a rare disease, presenting isolated @PHENOTYPICFEATURE$ and megakaryocytopenia in infancy, which can evolve into aplastic anemia and leukemia.	has_symptom
+41dc37d16b553611a4c2efbb233db160e091c49b	@DISEASE$ (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic @PHENOTYPICFEATURE$ at birth without other characteristic physical anomalies.	has_symptom
+ed545cf73a2b9d764b95ed1017162e2b83b9f40f	@DISEASE$ (CAMT) is a very rare bone marrow failure syndrome presenting with isolated hypomegakaryocytic @PHENOTYPICFEATURE$ at birth developing into a pancytopenia during the first years of life.	has_symptom
+6fcd6d241a3dc67517a3a60f68a26978041c5abe	@DISEASE$ (CAMT) is a rare disease presenting with isolated @PHENOTYPICFEATURE$ in infancy and developing into a pancytopenia in later childhood.	has_symptom
+8ee9b277f54a92abb620a1ae4e5b5ba44dc8d909	A 72-year-old woman suffered from @DISEASE$ (GCA) which developed into lingual infarction and monocular @PHENOTYPICFEATURE$.	has_symptom
+28a0f71a2655558c949e473cc1d7d0a7401f87c8	Even in the times of corticosteroids @DISEASE$ may lead to complete bilateral @PHENOTYPICFEATURE$.	has_symptom
+bcf815ff9041f3dbac66d477dd906e930b6a1300	Necrosis of the tongue and unilateral @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+faece42a8c07367b0d7dbbb5e645c682d74a3b45	@DISEASE$ with scalp ulceration and @PHENOTYPICFEATURE$.	has_symptom
+eb6309b1e64120c69349517fcf3249d151fb5160	[@DISEASE$ and @PHENOTYPICFEATURE$--a disease with minor symptoms can lead to severe complications].	has_symptom
+850050f27b8a89e941274c815520588780346eb6	@DISEASE$ is a common cause of @PHENOTYPICFEATURE$.	has_symptom
+bb851f675ccfe3e1473c80f5c5b0f0f86bdb6e79	Visual disorders, even @PHENOTYPICFEATURE$, are serious complications of polymyalgia rheumatica (PMR) associated with @DISEASE$.	has_symptom
+99cd4fc201ac3031484efe9e423e7cc0932414d2	Transient monocular @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+03240ec42dfc560f055bb9d3b8f3590bb111ff8f	@DISEASE$ (GCA) has the potential to cause irreversible @PHENOTYPICFEATURE$ and stroke in affected patients [1-4].	has_symptom
+2d62ec2f5001fbde2df072a1edcc14d9618bbfe4	[@DISEASE$ associated with bilateral @PHENOTYPICFEATURE$, scalp necrosis and lingual necorsis].	has_symptom
+422f91e4c321fc155b97f22498aea34bac56fed3	The degenerative type of @DISEASE$ (PME) is a hereditary disease with @PHENOTYPICFEATURE$, stimulus sensitive myoclonus, characteristic EEG and mental deterioration in the late stage.	has_symptom
+2c9819cc7f3ec77c7865f5f4fec979dc69116bcf	The degenerative type of progressive myoclonus epilepsy (@DISEASE$) is a hereditary disease with @PHENOTYPICFEATURE$, stimulus sensitive myoclonus, characteristic EEG and mental deterioration in the late stage.	has_symptom
+95cd98ae199e5f62e5b3e1bdbd5f63a8a2f8a369	The degenerative type of @DISEASE$ (PME) is a hereditary disease with grand mal seizures, stimulus sensitive @PHENOTYPICFEATURE$, characteristic EEG and mental deterioration in the late stage.	false
+c11d613bff668d6c691566b99d001641e7140fd6	The degenerative type of progressive myoclonus epilepsy (PME) is a @DISEASE$ with grand mal seizures, stimulus sensitive @PHENOTYPICFEATURE$, characteristic EEG and mental deterioration in the late stage.	false
+44a7cc1d2951dec3e398cdb0445f7859a885ff99	The degenerative type of progressive myoclonus epilepsy (PME) is a hereditary disease with @DISEASE$, stimulus sensitive @PHENOTYPICFEATURE$, characteristic EEG and mental deterioration in the late stage.	false
+03165dff3f8e15de5cc6dd9468062ed5f4ffe957	The degenerative type of progressive myoclonus epilepsy (@DISEASE$) is a hereditary disease with grand mal seizures, stimulus sensitive @PHENOTYPICFEATURE$, characteristic EEG and mental deterioration in the late stage.	false
+a66dcd57e928745b9dcdcc5669e3098a23c76e69	Ramsay Hunt syndrome (RHS) is a rare condition within the @DISEASE$ syndrome (PME), with a triad of action myoclonus, @PHENOTYPICFEATURE$ and severe cerebellar ataxia.	has_symptom
+14b93f8dea779b87b63865d72658dea1139b6651	Ramsay Hunt syndrome (RHS) is a rare condition within the @DISEASE$ syndrome (PME), with a triad of action myoclonus, grand mal seizure and severe @PHENOTYPICFEATURE$.	false
+961bf851394702d60f667529f046097c0092d5e8	@DISEASE$ (RHS) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, grand mal seizure and severe @PHENOTYPICFEATURE$.	false
+cfaf2f0273e0e22123858d6e791c254e7763d2ee	Ramsay Hunt syndrome (RHS) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, @DISEASE$ and severe @PHENOTYPICFEATURE$.	false
+c904d481a543fb1714945ba596bcff670bc01fa4	Ramsay Hunt syndrome (@DISEASE$) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, grand mal seizure and severe @PHENOTYPICFEATURE$.	false
+b6e76d37e93ea58c33c220c1e2f9540618d03fa2	Autosomal recessive @DISEASE$ due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, @PHENOTYPICFEATURE$ and moderate to severe cognitive impairment, with probable autosomal recessive inheritance.	has_symptom
+0de2915d969340a2446590091030b8b9830da453	@DISEASE$ is a rare @PHENOTYPICFEATURE$ whose genetic association with HLA-A*29:02 is the highest between a disease and a major histocompatibility complex (MHC) molecule.	has_symptom
+e2aa57e98ff28c99e0f2facf894c772e2636f3a4	Four patients with @DISEASE$ developed late onset @PHENOTYPICFEATURE$.	has_symptom
+5e4209b401f1ca2a6398c6794b85f9c85f8810bf	Disorders of eye development such as @DISEASE$ and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and @PHENOTYPICFEATURE$, often lead to visual impairment or blindness.	has_symptom
+f1a6e7e403efab4dc3f57dcff7d1e97334cade48	Disorders of eye development such as @DISEASE$ and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to visual impairment or @PHENOTYPICFEATURE$.	false
+42ae61b1ced828ade12f77083b92e2533f32fa21	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated @PHENOTYPICFEATURE$ and @DISEASE$, often lead to visual impairment or blindness.	false
+ec84e39b93f378940c33198a3a9c6150e0fce415	Disorders of eye development such as @DISEASE$ and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated @PHENOTYPICFEATURE$ and glaucoma, often lead to visual impairment or blindness.	false
+2592e12b4e380a0df19f5d53d6a5f8d54d2f625d	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and @DISEASE$, often lead to @PHENOTYPICFEATURE$ or blindness.	false
+bd6ce5646b09497f80fdf71505ede165404959a7	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), @PHENOTYPICFEATURE$ where there may be pupillary and iris anomalies, and associated cataract and @DISEASE$, often lead to visual impairment or blindness.	false
+8bd8ee1cafa8c7c1ec23e172e75970943fb556ee	Disorders of eye development such as @DISEASE$ and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to @PHENOTYPICFEATURE$ or blindness.	false
+f034f46ecd743fe59b3b88dfe529c4c829112a98	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and @DISEASE$, often lead to visual impairment or @PHENOTYPICFEATURE$.	false
+0da13ea90eb658e27a176aff79aa1eb74bb6fc3d	Disorders of eye development such as @DISEASE$ and anophthalmia (small and absent eyes respectively), @PHENOTYPICFEATURE$ where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to visual impairment or blindness.	false
+fe6e9b26b00137e79f2c3f06e5c936b8fdaba93f	Ophthalmological differential diagnosis from Santavouri disease and Walker-Warburg syndrome, characterized by visual disturbance/@PHENOTYPICFEATURE$ and @DISEASE$/anterior chamber defects, respectively, is discussed.	has_symptom
+1caa0f6be160b50fe02a5b8586727471fd34450d	@PHENOTYPICFEATURE$ was significantly correlated with cataracts (p = 0.0002) and @DISEASE$ (p = 0.0024) but not poor visual acuity.	has_symptom
+ca3aa9f3ef141a08835b287395a4ac664a4417f5	@DISEASE$ was significantly correlated with @PHENOTYPICFEATURE$ (p = 0.0002) and microphthalmia (p = 0.0024) but not poor visual acuity.	false
+5d2557e189cc5cded8409c64c36ee9f26ddff35e	Glaucoma was significantly correlated with @PHENOTYPICFEATURE$ (p = 0.0002) and @DISEASE$ (p = 0.0024) but not poor visual acuity.	false
+be1aacc9a343acdb1da35975ca00a836d94804a5	@PHENOTYPICFEATURE$ is frequently observed in patients with anterior segment dysgenesis?(ASD), microcornea or @DISEASE$.	has_symptom
+b940340b40bd368edadd5908c34eea95e5ffabc4	Glaucoma is frequently observed in patients with @PHENOTYPICFEATURE$?(@DISEASE$), microcornea or microphthalmia.	false
+b7841c22236fe92b129e3bb85a2d6d2272be7d8d	Glaucoma is frequently observed in patients with @PHENOTYPICFEATURE$?(ASD), microcornea or @DISEASE$.	false
+51a0ec3d01c647ec094407d0739739e1f8b4413b	@DISEASE$ is frequently observed in patients with @PHENOTYPICFEATURE$?(ASD), microcornea or microphthalmia.	false
+3ebd8260f4ff101617e4c4b44d27cf88b3c4217a	Regarding symptoms of @DISEASE$, "Prolonged high fever" was reported by 52.6%, "Muscular pain" by 39.6% (p-value 0.009), "Bleeding" by 41.3% (p-value 0.001) and "Headache, @PHENOTYPICFEATURE$" by 44.7% (p-value 0.001).	has_symptom
+2f845a632f28285210d341bbeb202fb4513739e5	@DISEASE$ is an acute, mosquito-transmitted viral disease characterized by fever, headache, arthralgia, myalgia, rash, @PHENOTYPICFEATURE$.	has_symptom
+cc2d43f30477468a11f04433d4a1155654d0d97c	Dengue fever is an acute, mosquito-transmitted viral disease characterized by @PHENOTYPICFEATURE$, headache, arthralgia, myalgia, rash, @DISEASE$.	false
+8b78bc85e5025c3607de47d1ce0e02cf79b6f000	@DISEASE$ is an acute, mosquito-transmitted viral disease characterized by @PHENOTYPICFEATURE$, headache, arthralgia, myalgia, rash, nausea, and vomiting.	false
+38c45ff8b982797cb3b24d7b03fc67a4d7900764	@DISEASE$ (DF) is characterized by fever, intense headache, myalgias, arthralgias, rash, @PHENOTYPICFEATURE$.	has_symptom
+0259372fe68593ba761c3ec6e3c5a39a1987a00d	@DISEASE$ (DF) is characterized by @PHENOTYPICFEATURE$, intense headache, myalgias, arthralgias, rash, nausea and vomiting.	false
+926db03fcac85db89709dd63152f73f4501d3a07	Dengue fever (DF) is characterized by @PHENOTYPICFEATURE$, intense headache, myalgias, arthralgias, rash, @DISEASE$.	false
+64392b3816374307af9d2d8de16188d3578a3c36	Despite different ages and ethnic backgrounds, both individuals share a @DISEASE$-like facial phenotype and a distinct combination of physical and neurologic anomalies, such as @PHENOTYPICFEATURE$; hypoplastic jaws crowded with multiple supernumerary, yet unerupted, teeth; and cerebellar intention tremor.	has_symptom
+5b6c3a6bd396e80f704be59c5531816401a7f885	Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, @PHENOTYPICFEATURE$, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford @DISEASE$ was made.	has_symptom
+fe3db2391a953a6d70a32912087e434e757ae6ac	Both of them showed @PHENOTYPICFEATURE$, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford @DISEASE$ was made.	false
+e3db5dd7bd10226d401eea5baf245c703e8f029a	Both of them showed @PHENOTYPICFEATURE$, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and @DISEASE$, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made.	false
+d43374b4394b8fafcadb0f7e0417d6ae373f020e	Both of them showed @PHENOTYPICFEATURE$, a beaked nose with bird-like facies, prominent eyes, a small mouth, @DISEASE$, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made.	false
+91b6f7e8ada25d88e379564ad3340f6d6873b636	Lipomatosis of the pancreas found on MR and CT and the clinical findings pancytopenia, @PHENOTYPICFEATURE$, and recurrent infections are typical for @DISEASE$.	has_symptom
+bbb58959f682387e84c5bb9b24a2f78e90f14e88	@DISEASE$ (SDS) is an autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, exocrine pancreatic insufficiency, and hematologic defects.	has_symptom
+0f06bebb5d41d79aa16aec3949d602beb58e8a20	Some studies show that @DISEASE$ patients present @PHENOTYPICFEATURE$ rather than malnutrition and this would suggest an inherent growth problem.	has_symptom
+bc125907464da49cb4c1b3bf45fe08f0717e25b7	@DISEASE$ (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$, and bone marrow dysfunction.	has_symptom
+5ca67a3f28569913c9ab25b204cddd879b631700	@DISEASE$ (SDS) is widely recognised as a cause of exocrine pancreatic dysfunction, @PHENOTYPICFEATURE$ and bone marrow failure.	has_symptom
+43b6d302155cfe7f992af86f5431fd5502ea98e3	@DISEASE$ is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+f9adfab9eed614b0d9d940cd7b369cb1f16208be	Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+358fb9763773936327a0275454d1ed71ce9983c6	Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by @DISEASE$, bone marrow dysfunction, @PHENOTYPICFEATURE$, and short stature.	false
+58723843c92813ed1a0cc94479433cbb28b927c0	@DISEASE$ is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, @PHENOTYPICFEATURE$, and short stature.	false
+e4e40f9481b169f9fc63ae65c0a45795f48c652f	The child exhibited all the criteria of @DISEASE$, i.e., @PHENOTYPICFEATURE$, metaphyseal dysostosis, pancreatic insufficiency and neutropenia.	has_symptom
+091514a72866117d27c323b1e069302fec4983b7	@DISEASE$ (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, @PHENOTYPICFEATURE$, skeletal abnormalities and bone marrow dysfunction.	has_symptom
+9a58c6e5780595c78008f70741fde856c691c4bd	Shwachman-Diamond syndrome (SDS) is a rare @DISEASE$ characterized by pancreatic insufficiency, short stature, @PHENOTYPICFEATURE$ and bone marrow dysfunction.	false
+c01257f17b5ad0747ddf7bd15692cba12e92020f	Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, @DISEASE$, @PHENOTYPICFEATURE$ and bone marrow dysfunction.	false
+b3a4a54f6d70c1adf0a77ac00620c8863f102e21	@DISEASE$ (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, short stature, @PHENOTYPICFEATURE$ and bone marrow dysfunction.	false
+70bf3923853e54dc86e6a44b3db4a223d47d4beb	The @DISEASE$ is a rare, autosomal recessive primary immunodeficiency disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, @PHENOTYPICFEATURE$, bone marrow dysfunction and recurrent infections.	has_symptom
+f38008d6200d697ef72e5783c392861fbbd2c69a	Recognized features persisting in later life include @DISEASE$ (all patients), @PHENOTYPICFEATURE$ (5/6), advanced dental caries (4/6), and impaired glucose tolerance (2/6).	has_symptom
+8525a1801a86742596314d072bd4a76201f7a9ec	We report the case of a 56-year-old woman with known @DISEASE$ and an unremarkable ocular history who experienced an extensive corneal epithelial blister during phacoemulsification @PHENOTYPICFEATURE$ surgery.	has_symptom
+7c7e29ce411ea105b2d3f5324bcc511ee7679616	Recognition of @PHENOTYPICFEATURE$ as a part of @DISEASE$ and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible.	has_symptom
+3bd97af4e8c4392b44bce70caafd8c154977ea7d	The definitive diagnoses of infantile fibrosarcoma, persistent hyperplastic primary vitreous/persistent fetal vasculature, @DISEASE$, and @PHENOTYPICFEATURE$ with coloboma and retrobulbar cyst were made postnatally.	has_symptom
+6faead9e48146258ac009a13e21ca6a38c2ebc32	A 28-year-old man with @DISEASE$ presented with cryptophthalmos, @PHENOTYPICFEATURE$, lacrimal system dysgenesis, and chronic sinusitis.	has_symptom
+233080803fc881d37259a9dfe57864faaad0328c	@DISEASE$ @PHENOTYPICFEATURE$ (SLD) is a leading cause of morbidity and mortality in patients with systemic sclerosis.	has_symptom
+82a946d85431153c7963715822388c5a18535aa3	Even in dcSSc, ACA appears protective for organ-based complications, namely @PHENOTYPICFEATURE$ and @DISEASE$ renal crisis, and is associated with a better survival than expected in dcSSc.	has_symptom
+d79979ff2ea1db8ee019e02ff1abfcfcaee60ab5	@DISEASE$ @PHENOTYPICFEATURE$ is characterised by a VEGF deficiency.	has_symptom
+ab06463e151211359e76ffe9f5731ca41bc07592	He was diagnosed @DISEASE$ with epignathus, @PHENOTYPICFEATURE$, duplication of the mandible, and a lobulated tongue.	has_symptom
+7e31d507b680365c5ad7919631f26707a3a71b30	[Familial @DISEASE$ with @PHENOTYPICFEATURE$, convulsion & muscular hypertonia (author's transl)].	has_symptom
+b3308e96397d8c56d58a8876888fafc9e866dd93	[Familial @DISEASE$ with mental retardation, convulsion & muscular @PHENOTYPICFEATURE$ (author's transl)].	false
+015108a6158f13aed3f25644e3f1f6dc3b869f6f	[Familial hyperlysinemia with @DISEASE$, convulsion & muscular @PHENOTYPICFEATURE$ (author's transl)].	false
+d3c88a493b9fbc3d483c22f43be80ecbb0cb81fb	These signs are @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and hypogonadism.	has_symptom
+bd9f486867e0978ded0d2cf0dafb99f33bfbeec1	These signs are retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, and @DISEASE$.	false
+61ae95ba57d61514897bd2a07857ea02b5f3e4f9	These signs are @DISEASE$, @PHENOTYPICFEATURE$, obesity, and hypogonadism.	false
+4bff7d9d6c4b3669a9913781951ac6e4f453b70d	These signs are retinitis pigmentosa, @PHENOTYPICFEATURE$, @DISEASE$, and hypogonadism.	false
+f4e16948153a5d87c098c634652159657102f290	It is characterize by @PHENOTYPICFEATURE$, oligophrenia, polidactylia, @DISEASE$, hipogonadism, but often there are various others symptoms.	has_symptom
+da47364291b573fd866ff79635e565f415d9a291	He presented with postaxial polydactyly, @PHENOTYPICFEATURE$, micropenis, @DISEASE$, and learning disability.	has_symptom
+bfdba0614b207bd498433b4e5f384c2fd439b95c	@DISEASE$, @PHENOTYPICFEATURE$, and learning difficulties were present in the affected individuals in both families.	has_symptom
+927b629732dea6e2b0993b1db7ca246174bc5121	Polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, strabismus, nistagmus and renal failure were found.	has_symptom
+f8055ed2548fea451cfa3e44ada4dc68b4de7451	@PHENOTYPICFEATURE$, @DISEASE$, obesity, strabismus, nistagmus and renal failure were found.	false
+f62204ec1f6d461c694f06a8fe289d2af72b22f9	Polydactyly, retinitis pigmentosa, @DISEASE$, strabismus, nistagmus and @PHENOTYPICFEATURE$ were found.	false
+6ddbb08725e637012f009993869a452b097ba9fe	Polydactyly, @DISEASE$, obesity, strabismus, nistagmus and @PHENOTYPICFEATURE$ were found.	false
+a3e1cc47f9ab679bcd58d8f4cefd5c4cb8203526	@PHENOTYPICFEATURE$, retinitis pigmentosa, @DISEASE$, strabismus, nistagmus and renal failure were found.	false
+d130053dd4a218b8c38651555acf7358ed6b3695	Six cases of @PHENOTYPICFEATURE$, short stature, mental retardation, small genitalia, and @DISEASE$.	has_symptom
+37093a44a1fff8207cbca44a552434f491c14381	Six cases of obesity, @PHENOTYPICFEATURE$, mental retardation, small genitalia, and @DISEASE$.	false
+989830e58bf03040ad4ec4e0c0c7d0350b24b40c	Six cases of @DISEASE$, short stature, @PHENOTYPICFEATURE$, small genitalia, and retinitis pigmentosa.	false
+404ad8c8b53c2f10bc501fe23f2b670dab808ef3	Six cases of obesity, short stature, @PHENOTYPICFEATURE$, small genitalia, and @DISEASE$.	false
+f0d81acbf71e5954915bade5f535d406bd9ad005	Six cases of @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, small genitalia, and retinitis pigmentosa.	false
+4685e0f1bd87a5a5c82194467b268c123dfe179e	poly or syndactyly, mental retardation, @PHENOTYPICFEATURE$, hypogenitalism and @DISEASE$.	has_symptom
+ec8a2de39726b31152355c292aded84a6f9504de	poly or syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, hypogenitalism and retinitis pigmentosa.	false
+c106f3270dd691958e3f2dcdc248f7d64bbb3e0c	poly or @PHENOTYPICFEATURE$, mental retardation, obesity, hypogenitalism and @DISEASE$.	false
+121afc206bd48533d1da42d38aa82a8e895b18ac	poly or @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, hypogenitalism and retinitis pigmentosa.	false
+f4e202fbcefa507864af3c46607621c69d078455	poly or syndactyly, @PHENOTYPICFEATURE$, obesity, hypogenitalism and @DISEASE$.	false
+ea0bb5fa1de4b38cd18f15d0f2510ea7630dfbf7	The cardinal signs were @DISEASE$, @PHENOTYPICFEATURE$ and polydactyly.	has_symptom
+5e33d865968ea50ae37074edc24eaecfde76dd8c	The cardinal signs were @DISEASE$, obesity and @PHENOTYPICFEATURE$.	false
+528c85a5adbcddf3f50b174eea153f98b25742a5	The cardinal signs were retinitis pigmentosa, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3bb0bb92b50aa490d1c0d810eaee3ee795d96d6d	It is characterized predominantly by hypogonadism, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+6e88765ede4108c0852fdcd7abe27a83b422960f	It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9218654ee52b27a70d47d943f5389ebd9982247f	It is characterized predominantly by hypogonadism, polydactyly, @DISEASE$, obesity, and @PHENOTYPICFEATURE$.	false
+c7ff0ed1cbb2cae229b176ba7cc7c984bbf37088	It is characterized predominantly by hypogonadism, @PHENOTYPICFEATURE$, @DISEASE$, obesity, and mental retardation.	false
+5114ed0fa1b1238389d2ead665ef73eca1af9abc	It is characterized predominantly by hypogonadism, @PHENOTYPICFEATURE$, retinitis pigmentosa, @DISEASE$, and mental retardation.	false
+77a601122b43034892c6a29c84403d66e94f3d6a	The cardinal clinical features include @DISEASE$, @PHENOTYPICFEATURE$, intellectual delay, polydactyly/syndactyly, and hypogenitalism.	has_symptom
+4d9e9ef908890f02e11cef6392881bac186b0417	The cardinal clinical features include @DISEASE$, obesity, intellectual delay, polydactyly/@PHENOTYPICFEATURE$, and hypogenitalism.	false
+1b425d1b0dee81ef14dc45449401d5de1ba71e72	The cardinal clinical features include retinitis pigmentosa, @DISEASE$, intellectual delay, @PHENOTYPICFEATURE$/syndactyly, and hypogenitalism.	false
+40f58ab77c99056cceb03d892f4912118d76a41c	The cardinal clinical features include retinitis pigmentosa, @DISEASE$, intellectual delay, polydactyly/@PHENOTYPICFEATURE$, and hypogenitalism.	false
+ba894cfeb8d58eadc18a8da4d64f33fbfec9a9d2	The cardinal clinical features include @DISEASE$, obesity, intellectual delay, @PHENOTYPICFEATURE$/syndactyly, and hypogenitalism.	false
+f1c22e7436b7b483ed6e3752e7224c7cb20badab	PRRT2 is a candidate gene for ASD since homozygote mutations are associated with @PHENOTYPICFEATURE$ and heterozygote mutations cause benign infantile seizures, paroxysmal dyskinesia, or @DISEASE$.	has_symptom
+af1e476a5830448e00b207e0a7e80bfdbf33f8ac	PRRT2 is a candidate gene for @DISEASE$ since homozygote mutations are associated with intellectual disability and heterozygote mutations cause benign infantile @PHENOTYPICFEATURE$, paroxysmal dyskinesia, or hemiplegic migraine.	false
+d2fd29fdbdfe95b673839bab6fd4ff5f791fd1ad	PRRT2 is a candidate gene for ASD since homozygote mutations are associated with @DISEASE$ and heterozygote mutations cause benign infantile @PHENOTYPICFEATURE$, paroxysmal dyskinesia, or hemiplegic migraine.	false
+94601c2da508d8ae7be3e0bd713400f6d0ed2db4	PRRT2 is a candidate gene for ASD since homozygote mutations are associated with intellectual disability and heterozygote mutations cause benign infantile @PHENOTYPICFEATURE$, @DISEASE$, or hemiplegic migraine.	false
+b23ff5347432a8038cdda930750c44947c8226a1	PRRT2 is a candidate gene for ASD since homozygote mutations are associated with intellectual disability and heterozygote mutations cause benign infantile @PHENOTYPICFEATURE$, paroxysmal dyskinesia, or @DISEASE$.	false
+62c81a53ce464c4afd9c6f5aea491c349c6da308	All 3 patients presented paroxysmal bouts of ataxia, but age of onset, associated symptoms and symptoms at clinical onset were clearly distinct with @DISEASE$ attacks in the father, absence epilepsy in one child and @PHENOTYPICFEATURE$ in the other child.	has_symptom
+1c329046ce8858fc3c8bbd264add57552e424cb6	All 3 patients presented paroxysmal bouts of @PHENOTYPICFEATURE$, but age of onset, associated symptoms and symptoms at clinical onset were clearly distinct with hemiplegic migraine attacks in the father, absence @DISEASE$ in one child and mental retardation in the other child.	false
+54cd2b68ca4d4138cf5e7abeb3015298d68aca36	All 3 patients presented paroxysmal bouts of @PHENOTYPICFEATURE$, but age of onset, associated symptoms and symptoms at clinical onset were clearly distinct with hemiplegic migraine attacks in the father, absence epilepsy in one child and @DISEASE$ in the other child.	false
+98c1aa7081d1972a7629065d177e552454c4096e	All 3 patients presented paroxysmal bouts of @PHENOTYPICFEATURE$, but age of onset, associated symptoms and symptoms at clinical onset were clearly distinct with @DISEASE$ attacks in the father, absence epilepsy in one child and mental retardation in the other child.	false
+cfb9e894cc15a4711be7bb1edf44003627e65a7b	Typical manifestations of EA2 may be associated and temporally preceded by rare manifestations such as @DISEASE$ attacks, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+c0a9a8092a33f6e6713646f6272c028b683e4bd4	Expanding the phenotype of @DISEASE$ to include short dental roots, hypogammaglobulinemia, and @PHENOTYPICFEATURE$.	has_symptom
+60e7e2c6ca326e402c9166e87dc2d74a21fb3a7d	Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6869b5934e245fe874eb9db02b200274ed1557d0	Expanding the phenotype of @DISEASE$ to include short dental roots, @PHENOTYPICFEATURE$, and cataracts.	false
+8aadfc7ecd7564f3f9d79a5a7785a04ea603112f	Bilateral simultaneous disc edema and @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+5d4f9a2bfaf93fec10e760a1210845064672c278	Bilateral simultaneous disc @PHENOTYPICFEATURE$ and cataract associated with @DISEASE$.	false
+6efaf80de26bace8c025eb781edfd7c8b2875d1a	Bilateral simultaneous disc @PHENOTYPICFEATURE$ and @DISEASE$ associated with albright hereditary osteodystrophy.	false
+181a0164c17a35fd8dde82acb49b3248f51c7339	[@DISEASE$ I and @PHENOTYPICFEATURE$].	has_symptom
+f73ff7004885073d3af2e6be39a8eb029111518c	A case is presented of a prepubertal girl with the characteristic somatic features of @DISEASE$, including severe short stature, @PHENOTYPICFEATURE$ and shortening of all metacarpals and metatarsals and of the second middle hand phalanges, whose diagnosis of pseudopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluation (normocalcemia, normophosphatemia, normal levels of circulating PTH and normal response to exogenous PTH).	has_symptom
+68e4764faa5a0fac043cd77a49ca34108948b66c	A case is presented of a prepubertal girl with the characteristic somatic features of Albright's hereditary osteodystrophy, including @PHENOTYPICFEATURE$, @DISEASE$ and shortening of all metacarpals and metatarsals and of the second middle hand phalanges, whose diagnosis of pseudopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluation (normocalcemia, normophosphatemia, normal levels of circulating PTH and normal response to exogenous PTH).	false
+38a134ee0111949717670b05a6dceb1150c13e53	A case is presented of a prepubertal girl with the characteristic somatic features of @DISEASE$, including @PHENOTYPICFEATURE$, cataracts and shortening of all metacarpals and metatarsals and of the second middle hand phalanges, whose diagnosis of pseudopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluation (normocalcemia, normophosphatemia, normal levels of circulating PTH and normal response to exogenous PTH).	false
+bdbcb02eedacc6e872766390cf5b580d78a1f361	@DISEASE$ (AGU) is a lysosomal storage disease leading to @PHENOTYPICFEATURE$, which is caused by deficiency of aspartylglucosaminidase (AGA).	has_symptom
+f9125aa25eea730b2fddc90678661d36f9ad35af	@DISEASE$ (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and @PHENOTYPICFEATURE$.	has_symptom
+7b133f510d7b341100f3969a9611b606b7a553be	@DISEASE$ is a rare autosomal recessive lysosomal storage disorder leading early to a progressive @PHENOTYPICFEATURE$.	has_symptom
+2ddd0ef0718f21962a88cdd23929ede2ab37c2e6	@DISEASE$ (AGU) is a lysosomal storage disease characterized by @PHENOTYPICFEATURE$, recurrent infections in childhood, hepatosplenomegaly and coarse facial features.	has_symptom
+9caf65c765502080ef8162dea4a09b421305591b	@DISEASE$ has recently been reported as a novel disease that belongs to two different classes of metabolic disorders, congenital disorders of glycosylation (CDG) and glycogen storage diseases.This paper focuses on previously reported siblings with @PHENOTYPICFEATURE$, hypothyroidism, increased transaminases, and, in one of them, dilated cardiomyopathy (DCM).	has_symptom
+a59432bfa6820f669926bb18924f96535f350d9a	We report two patients with @DISEASE$ that showed a combination of @PHENOTYPICFEATURE$ and MRI imaging indicating an SURF1 deficiency, which was confirmed by sequence analysis.	has_symptom
+1ca917f085e29449b236eded41dcb5f2d859fb85	Since both patients displayed characteristic @PHENOTYPICFEATURE$ and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with @DISEASE$ showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful.	has_symptom
+99df9498872b717c070c8562857235cd554b3444	Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with @DISEASE$ showing these @PHENOTYPICFEATURE$ and hypertrichosis, sequence analysis of the SURF1 gene may be useful.	has_symptom
+e90fe00d0f6f6606d5de310978cdb6dbdc96cdfd	Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with @DISEASE$ showing these facial dysmorphism and @PHENOTYPICFEATURE$, sequence analysis of the SURF1 gene may be useful.	false
+3b3079d6b7769fe77f934426793bebd932f99cdd	Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these @DISEASE$ and @PHENOTYPICFEATURE$, sequence analysis of the SURF1 gene may be useful.	false
+e1999ad85f4d1716954e3c69380b14a98bd63ae5	Since both patients displayed characteristic @DISEASE$ and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these facial dysmorphism and @PHENOTYPICFEATURE$, sequence analysis of the SURF1 gene may be useful.	false
+32704e15552fb30462a371a542e32bc4c67baccd	Immune deposits in skin vessels, most frequently complement C3, are common in subjects with acute hemorrhagic edema of young children, providing furhter evidence that acute hemorrhagic @PHENOTYPICFEATURE$, @DISEASE$, and pauci-immune vasculitides are different entities.	has_symptom
+52310448a9418f31de731bc7b88a240a5c2ea4ad	Immune deposits in skin vessels, most frequently complement C3, are common in subjects with acute hemorrhagic @PHENOTYPICFEATURE$ of young children, providing furhter evidence that acute hemorrhagic edema, @DISEASE$, and pauci-immune vasculitides are different entities.	has_symptom
+6c716a039ba7e34b5e189355d59c5f8b7150671d	@DISEASE$ comprises dysmorphic facial features, @PHENOTYPICFEATURE$, brachymesomelia, segmental spine defects, and genital hypoplasia.	has_symptom
+4e22764adf36705bff12d2b915623dd2e7f7a832	In contrast to the clinical data of four previously reported individuals with DVL3-related @DISEASE$, @PHENOTYPICFEATURE$ was not present in this individual at the age of 15 years.	has_symptom
+f769fc35c478a927f630635cb3d50012c3b9699d	Recessive @DISEASE$ (RRS) is an extremely rare @PHENOTYPICFEATURE$ genetic condition with significant and characteristic oral, dental, and facial attributes that generally requires coordinated multidisciplinary dental and medical interventions.	has_symptom
+838c3a93cff275734c60ed9666a0d7dd18f49a75	@DISEASE$, originally described in 1969, consists of mesomelic brachymelia, @PHENOTYPICFEATURE$, genital hypoplasia and characteristic facies.	has_symptom
+c7d454874f8a00bd228a8a384fd121bbbc76a2eb	Both children had @PHENOTYPICFEATURE$, limb and hand malformations and craniofacial patterns of @DISEASE$.	has_symptom
+23b41ae0f209d6a9d5f6beb2d3fdba5f63e23027	Dwarfism, rhizomelic limb shortness, and abnormal face: new @PHENOTYPICFEATURE$ syndrome sharing some manifestations with @DISEASE$.	has_symptom
+9b5cfbbe1de37534f4bf9a5fc901941eac9487c3	Dwarfism, rhizomelic limb shortness, and @PHENOTYPICFEATURE$: new short stature @DISEASE$ sharing some manifestations with Robinow syndrome.	false
+d794b026014a1719b1792adbc8c0b5a1d702ed1f	Dwarfism, rhizomelic limb shortness, and @PHENOTYPICFEATURE$: new @DISEASE$ syndrome sharing some manifestations with Robinow syndrome.	false
+52a10eb67c77ab0f147d07c5729222e2a2c201fe	Dwarfism, rhizomelic limb shortness, and @PHENOTYPICFEATURE$: new short stature syndrome sharing some manifestations with @DISEASE$.	false
+144513507b514e35e1f0f28b47e8c301318c80c6	@DISEASE$ is a rare entity characterized by @PHENOTYPICFEATURE$ and abnormalities of the head, face and external genitalia.	has_symptom
+0fa42a91bc6268242f347abe7005ed0962255255	@DISEASE$ is a rare entity characterized by short stature and @PHENOTYPICFEATURE$, face and external genitalia.	false
+c26ca23874ccb79da676bfe3b306b8b5fe984075	Robinow syndrome is a rare entity characterized by @DISEASE$ and @PHENOTYPICFEATURE$, face and external genitalia.	false
+c307353a223b8fad5e1c77381d5daa8395039f55	In addition, the family had other clinical features not previously observed in the @DISEASE$, including partial @PHENOTYPICFEATURE$ and partial ocular albinism.	has_symptom
+8ac4ecc12830a44e387bb2e472429438533905de	@DISEASE$ is a systemic small vessel leukocytoclastic vasculitis characterized by skin @PHENOTYPICFEATURE$, arthritis, abdominal pain and nephritis.	has_symptom
+bd028742e941df2c41a9a3624cca66bdf5beb25e	@DISEASE$ is a systemic small vessel leukocytoclastic vasculitis characterized by skin purpura, arthritis, @PHENOTYPICFEATURE$ and nephritis.	false
+287a93593a478764c32fd8ed4c9d8ca16bce4387	IgA vasculitis is a systemic small vessel leukocytoclastic vasculitis characterized by skin purpura, @DISEASE$, @PHENOTYPICFEATURE$ and nephritis.	false
+d88b1d90fd8720499009a70d4400c96a373f62b2	IgA vasculitis is a systemic small vessel leukocytoclastic vasculitis characterized by skin purpura, arthritis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a03f95a15d5c4a95b1ce3f5fad075a445b4d8ed0	IgA vasculitis is a systemic small vessel @DISEASE$ characterized by skin purpura, arthritis, @PHENOTYPICFEATURE$ and nephritis.	false
+93aac0f12e45c1683caeae0fd6f2caf510a0a77c	IgA vasculitis is a systemic small vessel leukocytoclastic vasculitis characterized by skin @DISEASE$, arthritis, @PHENOTYPICFEATURE$ and nephritis.	false
+ad6f18c65aa4ed4d48da2f53ca9511ac8d14da60	Two cases of congenital @PHENOTYPICFEATURE$ with @DISEASE$ and an isolated cleft palate are described to illustrate the variable presentation of the clinical features and the importance of early recognition of Van der Woude syndrome because of the genetic implications.	has_symptom
+ca478b2fea16859691e02c8618d566909dbc00c1	Like @DISEASE$ patients, HGPS minipigs endogenously co-express progerin and normal lamin A/C, and exhibit severe @PHENOTYPICFEATURE$, lipodystrophy, skin and bone alterations, cardiovascular disease, and die around puberty.	has_symptom
+aed051c1af6a4f7237f969efd6a8dff8d6fa2363	LmnaHG/+ mice exhibited phenotypes similar to those in human @DISEASE$ patients, including @PHENOTYPICFEATURE$, reduced amounts of adipose tissue, micrognathia, osteoporosis, and osteolytic lesions in bone.	has_symptom
+402be02c590ee209f7a9d074fbd0390b116dd954	LmnaHG/+ mice exhibited phenotypes similar to those in human HGPS patients, including retarded growth, reduced amounts of adipose tissue, @PHENOTYPICFEATURE$, osteoporosis, and @DISEASE$ in bone.	false
+9f1b955f4673a4d283ad2fd092605fc7069e001f	LmnaHG/+ mice exhibited phenotypes similar to those in human @DISEASE$ patients, including retarded growth, reduced amounts of adipose tissue, @PHENOTYPICFEATURE$, osteoporosis, and osteolytic lesions in bone.	false
+070d4f287afc0f82f061cc19b37d0d3d2f2ca930	LmnaHG/+ mice exhibited phenotypes similar to those in human HGPS patients, including @DISEASE$, reduced amounts of adipose tissue, @PHENOTYPICFEATURE$, osteoporosis, and osteolytic lesions in bone.	false
+d25f59eb3bf2eb16f5105aaf1535a375237c2e59	Progeria infantum (@DISEASE$) is a very rare syndrome of premature aging characterized by @PHENOTYPICFEATURE$ and specific, progressive, premature senescent changes of the skin and other tissues.	has_symptom
+dd05ed7629eddfb76328d1f2dcb34428e4e0c08e	We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., @DISEASE$ or mandibuloacral dysplasia), such as aged appearance, @PHENOTYPICFEATURE$, decreased subcutaneous fat, thin limbs, and stiff joints.	has_symptom
+22dadff5835ab8dbb161c204b0b4cdfe8235437a	Currently reported noninfectious pulmonary complications related to TNFi use include most commonly granulomatous disease and pulmonary fibrosis/@PHENOTYPICFEATURE$ and rarely alveolar hemorrhage and @DISEASE$.	has_symptom
+047b568eea84725c74dc7a9522f7cf29489e7a14	Autosomal-dominant PLD (@DISEASE$) with no or very few @PHENOTYPICFEATURE$ is a separate disorder caused by PRKCSH, SEC63, or LRP5 mutations.	has_symptom
+c78c778b7ba9ecc95d60d61cd063ba60c7f01e96	Dominantly inherited isolated polycystic liver disease (@DISEASE$) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant @PHENOTYPICFEATURE$.	has_symptom
+103edefb06c93a8878ef41f9b9eb4f2334fa17a7	@DISEASE$ (PLD) is proven to occur either sporadically or in association with autosomal dominant polycystic kidney disease (ADPKD), whereas the existence of an isolated (i.e., without any @PHENOTYPICFEATURE$) familial form is disputed.	has_symptom
+8e071b3851692c72250173babbd1a98764306ac5	Polycystic liver diseases (@DISEASE$) represent a group of genetic disorders in which cysts occur solely in the liver, or together with @PHENOTYPICFEATURE$.	has_symptom
+0af7de97dd473c3367165e64f35c592924221e55	@DISEASE$ (PCLD) represent a group of genetic disorders in which cysts occur solely in the liver, or together with @PHENOTYPICFEATURE$.	has_symptom
+20d223774fd6de386a939316a65ee144d9b116da	We ascertained two large families with @DISEASE$ without @PHENOTYPICFEATURE$ and performed a genomewide scan for genetic linkage.	has_symptom
+6139d8931666cbef0ac6b649da9308fe0a5a9530	Isolated polycystic liver disease, that is, @DISEASE$ without @PHENOTYPICFEATURE$, is an entity distinct from polycystic kidney disease.	has_symptom
+c78c778b7ba9ecc95d60d61cd063ba60c7f01e96	Dominantly inherited isolated polycystic liver disease (@DISEASE$) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant @PHENOTYPICFEATURE$.	has_symptom
+a332c3c304733c2bf6d5b738fcb3aac43128e0a6	The presence of small to medium sized liver cysts (diameter between <1?cm and 4?cm) in all liver segments (>100?cysts) and absence of @PHENOTYPICFEATURE$ in the context of normal renal function led to the clinical diagnosis of @DISEASE$ (ADPLD).	has_symptom
+b4c48a02f5221fe86a348def4cc6903cddd22c2d	The presence of small to medium sized liver cysts (diameter between <1?cm and 4?cm) in all liver segments (>100?cysts) and absence of @PHENOTYPICFEATURE$ in the context of normal renal function led to the clinical diagnosis of autosomal dominant polycystic liver disease (@DISEASE$).	has_symptom
+d218f7ef36127056a0bd8525a54e324b2d329185	The @DISEASE$ is the association of cavernous hemangiomas and consumption coagulopathy marked by @PHENOTYPICFEATURE$, thrombocytopenia, and hypofibronigenemia.	has_symptom
+3f40b7a01630d4059184a89413498f85563b8f5c	Splenic rupture is a rare, but potentially fatal complication of @DISEASE$ and severe dengue which should be suspected when a patient presents with @PHENOTYPICFEATURE$ and hypotension.	has_symptom
+2e5de38033f1eaf07cb8f04f63e322647f523ce4	The differential diagnosis of an acute febrile syndrome with @PHENOTYPICFEATURE$ or gastrointestinal symptoms in patients living in endemic areas or who have recently travelled to certain regions should include @DISEASE$.	has_symptom
+4e8e277f5ec7ffcf32ee5e94dadabd3f3608d172	@DISEASE$ skin: an immune privilege site for @PHENOTYPICFEATURE$ development.	has_symptom
+54317c863b5acd8132eb630619ace0a3baf7c587	Four patients with @DISEASE$ are reported: 2 diagnosed following the development of multiple cutaneous @PHENOTYPICFEATURE$, and 2 at an earlier state.	has_symptom
+89f85f90161dd709a527c3285cfb43bc1d6e6ac2	@DISEASE$ (KD) is an angiogenetic @PHENOTYPICFEATURE$ process, characterized by its various clinical aspects.	has_symptom
+dcd44a450700428b12d4988197f9668e106c0e75	Various types of malignant ocular-cutaneous @PHENOTYPICFEATURE$ relating to sunlight developed in @DISEASE$ patients.	has_symptom
+9c12bb9a6278a13cdcb6f8d3d4e2adde31121d63	Cytogenetic study on eleven cutaneous @PHENOTYPICFEATURE$ and two pre-tumoral lesions from @DISEASE$ patients.	has_symptom
+01a11c4d31db0a3c2044c0d3e2fbd8f11d2ea5a5	Despite aggressive sun protection, most individuals with @DISEASE$ (XP) develop cutaneous @PHENOTYPICFEATURE$, including actinic keratoses.	has_symptom
+9eca7aacab3a9f162ed7d1faaf13c08f8af02128	Here we report the rare association of @DISEASE$ with adult Wilms' @PHENOTYPICFEATURE$ in two Libyan females.	has_symptom
+0279e3abd8e2d1ab26c0d1bbc15a48400b946a6b	@DISEASE$ with adult Wilms' @PHENOTYPICFEATURE$.	has_symptom
+726571e83eda8beb19a3021cfb46cea07f817554	[@DISEASE$ associated with intracerebral @PHENOTYPICFEATURE$: a case report].	has_symptom
+0e25c8a0b97afd6da96f76f1664478c63ab24416	Incidence of lids, conjunctival and orbital malignant @PHENOTYPICFEATURE$ in @DISEASE$ in Egypt.	has_symptom
+c016f5a4908e7df4b7e2cee33650da1db3666eed	Associated auto-immune diseases were: systemic lupus erythematosus, incomplete @PHENOTYPICFEATURE$, 'idiopathic' thrombocytopenic purpura and @DISEASE$ without thymoma (one of each).	has_symptom
+60e6e859596b74b1a8f3b2f4e6c2a69c582b428b	We utilized data from a large, nationally-representative cohort of older adults in the United States and found that PCNSL is significantly associated with @PHENOTYPICFEATURE$, polyarteritis nodusa, autoimmune hepatitis, @DISEASE$ and uveitis.	has_symptom
+d98a7628b7c20bfbfec350b6f5e1b43acb095237	Orbital inflammatory disease can complicate many systemic inflammatory disorders, including sarcoidosis, vasculitis, Crohn's disease, @PHENOTYPICFEATURE$, rheumatoid arthritis, @DISEASE$ and scleroderma, but has not been reported with spondyloarthropathies.	has_symptom
+d322fb373f3f9135ff51fe655bd817521f3a70cb	Commonly reported ADs includes: @DISEASE$, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, @PHENOTYPICFEATURE$, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura.	has_symptom
+419af3476f1fd47cea34d5684c73f55a38e266fc	Graves' disease, @DISEASE$, @PHENOTYPICFEATURE$, type 1 diabetes, systemic sclerosis, coeliac disease, autoimmune pancreatitis and primary biliary cirrhosis).	has_symptom
+007a97b0987aeb7f9151a1a9607ec4372b2fcdf4	Vaccinations generally did not induce worsening of disease activity in patients with multiple sclerosis, @PHENOTYPICFEATURE$, rheumatoid arthritis, insulin-dependent-diabetes-mellitus, chronic arthritis in children, vasculitides, and @DISEASE$, whereas immunogenicity, although protective, was generally lower than in normal controls, depending on disease severity and immunosuppressive therapy.	has_symptom
+3d6d3180e021eec85d8ac33179cd366cd3782365	The risk of epileptic seizures seems increased in several systemic autoimmune disorders including @PHENOTYPICFEATURE$, type 1 diabetes mellitus, @DISEASE$, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	has_symptom
+9640e4d6cb090954ff43ffe6be3db8a7bd9392d7	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic @DISEASE$ including systemic lupus erythematosus, type 1 diabetes mellitus, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	false
+dd0f2e73b09c4d24bc726077079cf99cdfdff216	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, type 1 diabetes mellitus, @DISEASE$, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	false
+622e515d3d965748871f82f66492b14f3be309ca	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, type 1 diabetes mellitus, myasthenia gravis, celiac disease, @DISEASE$, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	false
+ea56b91202a86b4dc6bc6c8f1b914b54e22801c8	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, type 1 diabetes mellitus, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, @DISEASE$, and bullous pemphigoid.	false
+a98af002199056401b1098a32f4123fde287c617	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, @DISEASE$, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	false
+c72118d39e9228353c3d2aa5122f90beebe49ca3	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including @DISEASE$, type 1 diabetes mellitus, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	false
+ea77ea44037ce0af662a428adf9f763936ebc451	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, type 1 diabetes mellitus, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, @DISEASE$, multiple sclerosis, neuromyelitis optica, and bullous pemphigoid.	false
+3533d586b29e3ee1990f077e4a34ca5c98e63f4c	The risk of @PHENOTYPICFEATURE$ seems increased in several systemic autoimmune disorders including systemic lupus erythematosus, type 1 diabetes mellitus, myasthenia gravis, celiac disease, rheumatoid arthritis, Hashimoto's encephalopathy, psoriasis, @DISEASE$, neuromyelitis optica, and bullous pemphigoid.	false
+95155fbe6bbef4c6be67b556da0e3977f32ba286	In particular, one patient had a @PHENOTYPICFEATURE$, one patient had rheumatoid arthritis, 4 patients reported autoimmune thyroiditis (Basedow-Graves' disease and Hashimoto's thyroiditis), one patient had clinical features of psoriasis, one patient showed @DISEASE$, and one patient had giant cell arteritis.	has_symptom
+9dc07330aa1a53dea829e29ddf55f23911589c9e	A single base change in the coding region of this gene resulting in an arginine to tryptophan amino acid substitution within a polyproline binding motif associates with type 1 diabetes, rheumatoid arthritis, @PHENOTYPICFEATURE$, Hashimotos thyroiditis, Graves disease, Addison's disease, @DISEASE$, vitiligo, systemic sclerosis juvenile idiopathic arthritis and psoriatic arthritis.	has_symptom
+764fb1006951bae6009a4973754eefa0e78f5587	We calculated the prevalence of the following IDs: rheumatoid arthritis, ulcerative colitis, arthropathy, amyloidosis, @PHENOTYPICFEATURE$, celiac disease, multiple sclerosis, @DISEASE$, polymyalgia rheumatica, idiopathic thrombocytopenic purpura, Crohn disease, Hashimoto thyroiditis, autoimmune hepatitis, irritable bowel syndrome, asthma, and environmental allergy.	has_symptom
+79b373453fc26c01a374446c757f4ff5ae119e65	Combined immunodeficiency with normal immunoglobulins (@DISEASE$) is a disease of primary immunodeficiency characterized by recurrent infections, @PHENOTYPICFEATURE$, lymphopenia, diminished lymphoid tissue, abnormal structure  or agenesis of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody synthesis.	has_symptom
+1b35e5c6d5d124a85de247967b68f8ffd3df4a81	@DISEASE$ was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, @PHENOTYPICFEATURE$, inguinal hernia, cryptorchidism, and other anomalies.	has_symptom
+de247d13a995b57d0b01a47d4cca14c4e8502af6	FG syndrome was originally described as a rare syndromic cause of X-linked @PHENOTYPICFEATURE$ associated with @DISEASE$, anal atresia, inguinal hernia, cryptorchidism, and other anomalies.	false
+3322543efe7dbb9a816edd5902b5d8df3bf32b8d	@DISEASE$ was originally described as a rare syndromic cause of X-linked @PHENOTYPICFEATURE$ associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies.	false
+cabf7db6fdcf5395873b52dbba308aa5619eac0b	FG syndrome was originally described as a rare syndromic cause of X-linked @PHENOTYPICFEATURE$ associated with congenital heart disease, anal atresia, inguinal hernia, @DISEASE$, and other anomalies.	false
+c2833a214fe327758f972da4c5c7ed76688e1bb1	FG syndrome was originally described as a rare @DISEASE$ cause of X-linked @PHENOTYPICFEATURE$ associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies.	false
+f5b431252c86576586949d87eac09721713026f5	FG syndrome was originally described as a rare syndromic cause of X-linked @PHENOTYPICFEATURE$ associated with congenital heart disease, @DISEASE$, inguinal hernia, cryptorchidism, and other anomalies.	false
+247b4a0afcb4b39f231853a18a7e8b75a8089158	Unilateral @DISEASE$ presents as unilateral stenosis or obstruction of the supraclinoid internal carotid artery, which causes cerebral hypoperfusion resulting in @PHENOTYPICFEATURE$ or TIA-like attacks.	has_symptom
+afc92c398214b69a67221f474503dcf023acf283	@DISEASE$ presenting as a @PHENOTYPICFEATURE$ disorder.	has_symptom
+84f2e981c763cc2a8c82bcbf27f859bb7f08cb19	In this report, we describe the case of a 34-year-old woman with @DISEASE$ who suddenly developed headache and jacksonian @PHENOTYPICFEATURE$.	has_symptom
+fc3bdc37f302d322b1d133da84cf9e56748c9194	We aimed to explore the risk factors of @PHENOTYPICFEATURE$ recurrence and the optimal surgical procedure for epileptic pediatric patients with @DISEASE$ (MMD).	has_symptom
+fec352efec80abf9987a122ac6e1a64564b07738	@DISEASE$ usually presents itself in children as recurrent episodes of transient cerebral ischemia, such as acute motor and sensory deficits, speech disturbance, headache and @PHENOTYPICFEATURE$.	has_symptom
+4be8b1ef0438e2ea49e34ead58745dbeb26a1f3e	@DISEASE$ manifested initially by repeated attacks of adversive @PHENOTYPICFEATURE$: report of one case.	has_symptom
+c8c6f3fd5fbb19d8561b58700df240b2f1a62c66	The authors report a unique case involving a 2-year-old child with @DISEASE$ who presented with cerebral infarctions and @PHENOTYPICFEATURE$.	has_symptom
+74de6aa81f617fb999dc8e1d902ecdb845ea71ee	@PHENOTYPICFEATURE$ and epileptiform EEG changes are common in patients with @DISEASE$.	has_symptom
+4639d7b1029376a0961ac873ab613d6c0c462dcd	At age 11 years, he developed @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$, for which he underwent bilateral pial synagiosis.	has_symptom
+d30a513d9ee20ab688a3af8925cdfa8194fcb6fc	Seizures developed in 10 sides (18.9%) after revascularization for @DISEASE$, including immediate (<24 hours, n = 0), early (1-7 days, n = 5), late (8-30 days, n = 0), and delayed @PHENOTYPICFEATURE$ (?1 month, n = 7).	has_symptom
+99697cb4b360ce072784a9a0953720fa009cb906	@PHENOTYPICFEATURE$ developed in 10 sides (18.9%) after revascularization for @DISEASE$, including immediate (<24 hours, n = 0), early (1-7 days, n = 5), late (8-30 days, n = 0), and delayed seizures (?1 month, n = 7).	has_symptom
+a56849fdbef515eca3c34134f6699d7ef6e674c7	Human daylight vision depends on cone photoreceptors and their degeneration results in @PHENOTYPICFEATURE$ and blindness as observed in several eye diseases including age-related macular degeneration, @DISEASE$, or late stage retinitis pigmentosa, with no cure available.	has_symptom
+a7358eac5e7bacfc4d7e04c886cd73449d35c247	Human daylight vision depends on cone photoreceptors and their degeneration results in visual impairment and @PHENOTYPICFEATURE$ as observed in several eye diseases including age-related macular degeneration, cone-rod dystrophies, or late stage @DISEASE$, with no cure available.	false
+bd2c05a76cd31ea7eb6c8685d1dcc56e15249c70	Human daylight vision depends on cone photoreceptors and their degeneration results in visual impairment and @PHENOTYPICFEATURE$ as observed in several eye diseases including age-related macular degeneration, @DISEASE$, or late stage retinitis pigmentosa, with no cure available.	false
+63d6d6b1aa022cef7bff8af657165870bff3a026	Human daylight vision depends on cone photoreceptors and their degeneration results in visual impairment and @PHENOTYPICFEATURE$ as observed in several eye diseases including @DISEASE$, cone-rod dystrophies, or late stage retinitis pigmentosa, with no cure available.	false
+c6f314885715f94a3ab499281b8c53496e41c42a	Human daylight vision depends on cone photoreceptors and their degeneration results in @DISEASE$ and @PHENOTYPICFEATURE$ as observed in several eye diseases including age-related macular degeneration, cone-rod dystrophies, or late stage retinitis pigmentosa, with no cure available.	false
+a2bbda05b5a03aa47edddd5abd05a797ad440bbf	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and @PHENOTYPICFEATURE$ caused by @DISEASE$.	has_symptom
+b2b739c0891f99e0508b7044da018b8010d950dc	Spondylometaphyseal dysplasia with @DISEASE$ is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and @PHENOTYPICFEATURE$ caused by cone-rod dystrophy.	has_symptom
+a58142f43682dbbf2dc0bcac302f92bb2b40fc03	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by @DISEASE$.	false
+ee6864c9340aa116703ed58dbf64e2873b56d013	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and @DISEASE$ caused by cone-rod dystrophy.	false
+1f1b50471815ebc3003260ff677a92ed5d650c44	@DISEASE$ with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+6c71303e35043e5e5edc15d23a242ba0bae08430	@DISEASE$ with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+75a582203afbb4924469bc3fbd95eab4860038be	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and @DISEASE$ caused by cone-rod dystrophy.	false
+a54072e12bf3a62a6cb01324adef218b0e883068	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and visual impairment caused by @DISEASE$.	false
+8acd8cebc1ef75991d5d20ccbc88273109cd85ed	Spondylometaphyseal dysplasia with @DISEASE$ is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+6840d5b93437e6ad80bcbd46ad80d82d5e531b52	Spondylometaphyseal dysplasia with @DISEASE$ is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+43036bb3d8c06f5604ff0c84d7032268591533cf	Inherited retinal disease was the most common cause of inherited @PHENOTYPICFEATURE$ in 38 of 57 families (66.6%) with Leber's congenital amaurosis, rod-cone dystrophy and @DISEASE$ being the most common diagnoses in 22, 8 and 3 families respectively.	has_symptom
+0bd52ff7b93c91f9a7a41783bee06d74cb2819ed	Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), @DISEASE$ (CRD), color @PHENOTYPICFEATURE$, Stargardt disease (STGD) and other maculopathies.	has_symptom
+0810c0d074826ac1d2f10dcf05d42afd11b7d6eb	To investigate bilateral symmetry of @PHENOTYPICFEATURE$ in @DISEASE$ (CRD) patients and understand the feasibility of clinical trial designs treating one eye and using the untreated eye as an internal control.	has_symptom
+4b2991988cd8cccd2e53a3fabfe2b438fa47b5fc	The triad of generalized seborrheic dermatitis, @PHENOTYPICFEATURE$, and diarrhea in an infant should bring to mind @DISEASE$ or severe combined immunodeficiency disease.	has_symptom
+de349ebdf9913a919b4b8859a318459a87cebcdc	@DISEASE$ (RDD) is a benign histioproliferative disorder characterized by generalized lymphadenopathy, weakness, @PHENOTYPICFEATURE$, and rarely extranodal involvement.	has_symptom
+660df625f3751279eb6ae4226eab3a510c3ed010	Four of the children were regularly examined owing to a family history of @DISEASE$, but among the remaining 18 children the delay in diagnosis exceeded one month in five cases (including all children presenting with @PHENOTYPICFEATURE$).	has_symptom
+59c8c8261b127b7020c70d115584fb4adfd4ca66	@DISEASE$ is characterized by tall stature, advanced bone age, characteristic facies, and variable @PHENOTYPICFEATURE$.	has_symptom
+8c53ae46fb92e2f8b8ed212e0f08f8e32a6426af	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified overgrowth/@PHENOTYPICFEATURE$ and macrocephaly/mental retardation, harbored NSD1 mutations.	has_symptom
+3a5fdaa7267bb2dcb4c69222a3891e301bab538d	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified overgrowth/mental retardation and macrocephaly/@PHENOTYPICFEATURE$, harbored NSD1 mutations.	has_symptom
+cd86af8971e7292ceb1036302821406518e861f5	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified overgrowth/mental retardation and @PHENOTYPICFEATURE$/mental retardation, harbored NSD1 mutations.	false
+fb56c22848b6cb8a23ccab6616c593e1cd4e02ac	In contrast to the high mutation detection rate in @DISEASE$, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and @PHENOTYPICFEATURE$/mental retardation, harbored NSD1 mutations.	false
+114bdaa508278155dbf40e7418c3febbf2be16a2	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified @PHENOTYPICFEATURE$/mental retardation and macrocephaly/@DISEASE$, harbored NSD1 mutations.	false
+b1ac9bf20e88e622568dd3c3a78364c8f389799b	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and @PHENOTYPICFEATURE$/@DISEASE$, harbored NSD1 mutations.	false
+9b9179269209e1a44c41d9e9e2f1d671f4be9e24	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified @PHENOTYPICFEATURE$/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+075f2b390e916b4249ed7ea6910da9aaed9619ca	In contrast to the high mutation detection rate in @DISEASE$, none of the patients with Weaver syndrome, unclassified @PHENOTYPICFEATURE$/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+00c190a7f52521347d918650996811c4379b1056	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified @PHENOTYPICFEATURE$/@DISEASE$ and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+5cbebfd5051acd020ec91026d9b246b5484cc259	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/@DISEASE$ and @PHENOTYPICFEATURE$/mental retardation, harbored NSD1 mutations.	false
+196a6303d797eb1f98e2bcf3c9b978d5393a6a90	@DISEASE$ (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, @PHENOTYPICFEATURE$, and susceptibility to cancers.	has_symptom
+fa628313efcc7d99f96b2df3ffaafc4b29e84c92	Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, @PHENOTYPICFEATURE$, specific facial features, accelerated bone age, @DISEASE$, and susceptibility to cancers.	false
+5a3a09c02d73bce189142435064291788a8e742b	@DISEASE$ (WS) is a rare congenital disorder characterized by generalized overgrowth, @PHENOTYPICFEATURE$, specific facial features, accelerated bone age, intellectual disability, and susceptibility to cancers.	false
+45b129ff32361d906613d02c83a50e8c35005e70	Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, @PHENOTYPICFEATURE$, specific facial features, accelerated bone age, intellectual disability, and susceptibility to @DISEASE$.	false
+6046f2e514579ade29e4e2dc6a9ce66ee89b666c	We report an 11-year-old boy with a de novo 1.2-Mb deletion at 7q36.1 including EZH2 who has tall stature, significant @PHENOTYPICFEATURE$, and some physical features of @DISEASE$.	has_symptom
+0d3035c17b3a5df3d3afafc961b55c6c9542a8c0	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @PHENOTYPICFEATURE$ (OGID), along with other features similar to @DISEASE$.	has_symptom
+d669121bb72a3fc0825e554287aac7f8cb8b97a3	EED-associated overgrowth (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and intellectual disability (OGID), along with other features similar to Weaver syndrome.	false
+6516e77057bd8e09d78d1f5da54651c08997b9e8	EED-associated @PHENOTYPICFEATURE$ (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and intellectual disability (OGID), along with other features similar to Weaver syndrome.	false
+9dd09fc57b702fc9d3404fe57585cae2c5f62a93	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and @DISEASE$ (OGID), along with other features similar to Weaver syndrome.	false
+5bf6c7befd5e2833a3b1867cd305491053e19c9a	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and intellectual disability (OGID), along with other features similar to @DISEASE$.	false
+07d744e9f8d8d136253013bd785a96a6b783dd57	EED-associated @PHENOTYPICFEATURE$ (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @DISEASE$ (OGID), along with other features similar to Weaver syndrome.	false
+a940c5ae3c5314378609a341b11b2249f74b6b83	EED-associated @PHENOTYPICFEATURE$ (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and intellectual disability (OGID), along with other features similar to @DISEASE$.	false
+0a0000d157e03fe6f60ef7d5a24173fe88cb871e	@DISEASE$, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable @PHENOTYPICFEATURE$.	has_symptom
+327f081a0d4c50f424e4c745c4e1db2d009c596a	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/@PHENOTYPICFEATURE$.	has_symptom
+3a10a61bb44587f9c8829ff2b000cd91c4040565	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified overgrowth/@PHENOTYPICFEATURE$, and six patients with macrocephaly/mental retardation.	has_symptom
+2eba62bf27dac6986fae4aff276847d40ee335b4	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with @PHENOTYPICFEATURE$/@DISEASE$.	false
+e37961c5f47ba048d341302ec0d7d6d73690116f	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with @DISEASE$, five patients with Weaver syndrome, six patients with unclassified @PHENOTYPICFEATURE$/mental retardation, and six patients with macrocephaly/mental retardation.	false
+8bc3356858994e52cf495b8a382fddf44eb3e67c	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified overgrowth/mental retardation, and six patients with @PHENOTYPICFEATURE$/mental retardation.	false
+eb5cc9e925edf3a0eff2fe3ad60ce436e4947e94	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified @PHENOTYPICFEATURE$/mental retardation, and six patients with macrocephaly/@DISEASE$.	false
+fd5c8d2d7624649cc62bfbb3943fd772f8f6eeea	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified @PHENOTYPICFEATURE$/mental retardation, and six patients with macrocephaly/mental retardation.	false
+790f8c84433a564df2ae37d29f94560faa9c8696	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified @PHENOTYPICFEATURE$/@DISEASE$, and six patients with macrocephaly/mental retardation.	false
+a0f678f869f2351e4a86320385539d037ed07c8f	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/@DISEASE$, and six patients with @PHENOTYPICFEATURE$/mental retardation.	false
+63c18d14e400b32b7e99b6f36670d46d25e082aa	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with @DISEASE$, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with @PHENOTYPICFEATURE$/mental retardation.	false
+ddc1f72a848f10981da9c88455d06cb06bb76378	In addition to pre- and post-natal overgrowth, @PHENOTYPICFEATURE$, an unusual craniofacial appearance and other abnormalities characteristic of the @DISEASE$, he had several clinical features not described in this syndrome.	has_symptom
+e766c8bfc28c3975640757f839ef546471d7aa6b	In addition to pre- and post-natal @PHENOTYPICFEATURE$, mental retardation, an unusual craniofacial appearance and other abnormalities characteristic of the @DISEASE$, he had several clinical features not described in this syndrome.	false
+92f5900c05febc24d9be1d948f1bea148e8e0b4a	In addition to pre- and post-natal @PHENOTYPICFEATURE$, @DISEASE$, an unusual craniofacial appearance and other abnormalities characteristic of the Weaver syndrome, he had several clinical features not described in this syndrome.	false
+c2ef245df1aef7274da5df7594b1a56e1d8accd0	@DISEASE$ is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable @PHENOTYPICFEATURE$, and characteristic facial features.	has_symptom
+61d28b61ab1793eca2baa83fa3f80d267d6e0618	Weaver syndrome is a rare condition characterized by overgrowth, @PHENOTYPICFEATURE$, accelerated osseous maturation, variable @DISEASE$, and characteristic facial features.	false
+c9b537ad5bc75c37d2052edebbcdd45acc8f5cc7	Weaver syndrome is a rare condition characterized by @PHENOTYPICFEATURE$, macrocephaly, accelerated osseous maturation, variable @DISEASE$, and characteristic facial features.	false
+c80ff2c1a2d4297e80ca824ba2de1f358ba544ae	@DISEASE$ is a rare condition characterized by @PHENOTYPICFEATURE$, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features.	false
+1dbbd04e292afcfb319f8dd4ddaada01af9abd2d	@DISEASE$ is a rare condition characterized by overgrowth, @PHENOTYPICFEATURE$, accelerated osseous maturation, variable intellectual disability, and characteristic facial features.	false
+04bcce06f9bd98b8bb7c528e85fff8bbfecb9cb1	We report on a 25-year-old woman who was diagnosed with @DISEASE$ after reevaluation because of the family's concern regarding recurrence risk for @PHENOTYPICFEATURE$ in offspring of the woman's brother.	has_symptom
+7369b9dfe2efd085815dc167ab645d7eb5b19e95	@DISEASE$ with @PHENOTYPICFEATURE$ and early-onset dementia.	has_symptom
+403930ddda516893ec0750071775339ad9afa398	Hereditary sensory neuropathy with @DISEASE$ and early-onset @PHENOTYPICFEATURE$.	false
+f1be63e4b6107246fe845136737530e0671b620e	@DISEASE$ with sensorineural deafness and early-onset @PHENOTYPICFEATURE$.	false
+be84c795e774aaa26016dbd820a411525c4419ec	The brain of a patient with @DISEASE$ type 1 (HSN-1) associated with @PHENOTYPICFEATURE$ and early-onset dementia was neuropathologically investigated.	has_symptom
+f286e1a8667b8fd7865e0813fa901685ea986a7e	The brain of a patient with @DISEASE$ type 1 (HSN-1) associated with sensorineural deafness and early-onset @PHENOTYPICFEATURE$ was neuropathologically investigated.	false
+0c5ed77d91b465fca4046fa664420cf57aec5963	The brain of a patient with hereditary sensory neuropathy type 1 (HSN-1) associated with @DISEASE$ and early-onset @PHENOTYPICFEATURE$ was neuropathologically investigated.	false
+a5bc3ddb2039236a8952eaf618d0aac78d31c520	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and @PHENOTYPICFEATURE$.	has_symptom
+9c1fd7f232ac224cb1302b1f23a9a1256ee1e6c2	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and @DISEASE$.	false
+3f8eb51869722bce56cb5c12cb379fd7822cd2a2	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation.	false
+7c772ff72de54685ff55a650077917613ded5de1	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, @PHENOTYPICFEATURE$ and mental retardation.	false
+38589d7b07c336171b6dc98931c97f8392e54341	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+862b7b2a43a5765352a789be3a85d58a7824e8fb	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, @PHENOTYPICFEATURE$ and musculoskeletal anomalies.	has_symptom
+567f7be7582eac231b07e4d53619baf1e7296472	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous @PHENOTYPICFEATURE$, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies.	false
+fa3f4341f80fdfef6f8125fc70b21d37e04873bc	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous @PHENOTYPICFEATURE$, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, @DISEASE$ and musculoskeletal anomalies.	false
+b4fa04d8067cf82066f19aa0bcde66a179daac54	The child was diagnosed to have @DISEASE$ (cryptophthalmos, abnormal genitalia, @PHENOTYPICFEATURE$, renal agenesis and abnormal ears).	has_symptom
+0c521bf1125b3cd09cfd7d313527f16196088ff4	@DISEASE$ is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, @PHENOTYPICFEATURE$ and musculoskeletal anomalies.	has_symptom
+8d453c8538f72b050c184bde88f63f7554aff8a5	Fraser syndrome is a rare autosomal recessive @DISEASE$ characterized by major features such as cryptophthalmos, @PHENOTYPICFEATURE$, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies.	false
+0916eaa55dad3b22627cdf216fdea2bd0757afae	@DISEASE$ is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, @PHENOTYPICFEATURE$, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies.	false
+da1b8394ecc5662307776efdbe8e62fed54480c0	Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, @PHENOTYPICFEATURE$, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, @DISEASE$ and musculoskeletal anomalies.	false
+02f50d423e213cc879d1f4d091849876cc887c1c	@DISEASE$ is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, @PHENOTYPICFEATURE$, and musculoskeletal anomalies.	has_symptom
+943f2f0d07256ae1b0aa6e630649f6f239f5012e	@DISEASE$ (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, @PHENOTYPICFEATURE$, syndactyly, and urogenital defects.	has_symptom
+d0cd40983907d81fc17ec8fad4761f49fc1bd409	Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and @PHENOTYPICFEATURE$, @DISEASE$, syndactyly, and urogenital defects.	false
+b441ca15bfef52efe17f5ba5bb0386a4623ed75d	@DISEASE$ (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and @PHENOTYPICFEATURE$, mental retardation, syndactyly, and urogenital defects.	false
+95049e5f78f356414adc14b3498ef7c3e0427241	Fraser syndrome (FS) is a rare @DISEASE$ characterized by cryptophthalmos, laryngeal defects and @PHENOTYPICFEATURE$, mental retardation, syndactyly, and urogenital defects.	false
+496d50f29c54ddea7a15262a2a8cd6e9361aab50	@DISEASE$ (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, @PHENOTYPICFEATURE$, and urogenital defects.	false
+bdadd91d2455432897949da3892abb12fbc9005a	Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, @DISEASE$, @PHENOTYPICFEATURE$, and urogenital defects.	false
+fbaea7d3aea2c88a73c4c4c6bcd6146b0f54b67b	Fraser syndrome (FS) is a rare @DISEASE$ characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, @PHENOTYPICFEATURE$, and urogenital defects.	false
+746ea8affbbe0098213085d80306a1bb44a605d9	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and @PHENOTYPICFEATURE$) have been defined for the diagnosis of @DISEASE$.	has_symptom
+ab29f6477bb311300d03ceda2c47ff161e9b1c18	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @PHENOTYPICFEATURE$, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+0ce7056a6369e614378fac099d726f99e5d338b3	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, @PHENOTYPICFEATURE$ and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+8aa700d64f0f0b6b286eb14719f3917347a3b241	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @PHENOTYPICFEATURE$, umbilical hernia, renal agenesis, skeletal anomalies and @DISEASE$) have been defined for the diagnosis of Fraser syndrome.	false
+c6c6f5af23f90591b244b909a05402709c32c49b	Four major characteristics (cryptophthalmos, @PHENOTYPICFEATURE$, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+6e023785a2360c22a29948c50fe488425135872e	Four major characteristics (cryptophthalmos, syndactyly, @PHENOTYPICFEATURE$ and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+6ca5e5ae264ea243d4c56cf28892300521a0f153	Four major characteristics (cryptophthalmos, @PHENOTYPICFEATURE$, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and @DISEASE$) have been defined for the diagnosis of Fraser syndrome.	false
+6e7e8c2de5dea65fc2de1c880406fd8935d9ab3f	Four major characteristics (cryptophthalmos, syndactyly, @PHENOTYPICFEATURE$ and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and @DISEASE$) have been defined for the diagnosis of Fraser syndrome.	false
+26f1a944f5ba249a747a43fe86883f34254e4228	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, @PHENOTYPICFEATURE$ and @DISEASE$) have been defined for the diagnosis of Fraser syndrome.	false
+5444ffd857609c81f5da5d3901e677ed5c56b9fd	@DISEASE$ is characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, @PHENOTYPICFEATURE$, and musculoskeletal anomalies.	has_symptom
+44392f05d37f68d5295150fe513fc313c4708c78	@PHENOTYPICFEATURE$, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-@DISEASE$.	has_symptom
+1519fce5c7349f3666f4922464fe48db1dcbb8da	Mental retardation, @PHENOTYPICFEATURE$, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-@DISEASE$.	false
+e5c823076c37cc983cdd673edba0a8efc3a56527	@DISEASE$, @PHENOTYPICFEATURE$, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-Fraser syndrome.	false
+495b5cf4f8ab379a68056df80696dcfa076b7421	@DISEASE$ is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, genitourinary mal-formations and @PHENOTYPICFEATURE$.	has_symptom
+d322dae4b487416d59627bd11ce6c8ff9103c3d8	@DISEASE$ is a rare, autosomal recessive condition with classical features of cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, genitourinary mal-formations and mental retardation.	false
+675af7f70e42c52a91c44f1d8c2b9eaef6c77045	Fraser syndrome is a rare, autosomal recessive condition with classical features of cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, genitourinary mal-formations and @DISEASE$.	false
+2a0bd32d52a804dad1ab9e5a500c90b0eaa37387	Twinkle mutations cause mtDNA deletion or depletion and are associated with a large spectrum of clinical symptoms including dominant progressive external ophthalmoplegia (adPEO), @DISEASE$ (IOSCA), and early-onset @PHENOTYPICFEATURE$.	has_symptom
+201f6cbb285723929ef0719fcafbeca88e95434e	High levels of low-molecular-mass complement component C1q (LMM-C1q), a haemolytically inactive form of C1q, are found in serum of individuals with inherited complete (functional) @DISEASE$ and in serum of patients with @PHENOTYPICFEATURE$, whereas lower levels are present in normal serum [Hoekzema, Hannema, Swaak, Paardekooper & Hack (1985) J. Immunol.	has_symptom
+e62968caa3e687f57bdd2c0924f1f20dfc1750fb	@DISEASE$ II (LAD II) is characterized by the lack of fucosylated glycoconjugates, including selectin ligands, causing immunodeficiency and severe mental and @PHENOTYPICFEATURE$.	has_symptom
+0a9fba2f5419421cf3ba67b0745cdcf993b250f9	@DISEASE$ II (LAD II) is a rare condition caused by defective protein fucosylation, causing decreased leukocyte rolling, psychomotor retardation, and @PHENOTYPICFEATURE$.	has_symptom
+a5e38c7a2dc121077e2b1fb65553b19b2260c871	Patients with @DISEASE$ were divided into 2 groups: symptomatic and asymptomatic for @PHENOTYPICFEATURE$.	has_symptom
+fd731071506cc155f02e7e94353c59a137ff253d	The majority of @DISEASE$ patients utilize acute care, most commonly for @PHENOTYPICFEATURE$.	has_symptom
+7b62c6bd19cd34bbec42c8ce18b334062bb8d538	@PHENOTYPICFEATURE$ as presenting symptom in patients with @DISEASE$.	has_symptom
+d0a3e84e29963e21e982fa402bd6b6774146e7cf	@PHENOTYPICFEATURE$ in patients with @DISEASE$ are associated with worse quality of life.	has_symptom
+29c4b5540ad3f9844e114ba90059f293a1cdb733	Major interrelated issues must be considered in the @PHENOTYPICFEATURE$ care of @DISEASE$ patients.	has_symptom
+285e355294f79f75a36909f95471d19e50d6dca1	Head trauma and @PHENOTYPICFEATURE$ as risk factors of @DISEASE$.	has_symptom
+4f0c8efe0b0d2b8bfa8ccb30c8c9b4b4fc1eaa32	@DISEASE$ (GBM) can often present with @PHENOTYPICFEATURE$.	has_symptom
+3731565f250e628976a41c5c7830ac209ea928ee	@PHENOTYPICFEATURE$ are one of the most frequent presentations of @DISEASE$.	has_symptom
+f4cf25d42ebc2bda5d8228a372613e7af493d9df	Prognostic significance of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+747fdc445a43db86d0261ace6eb96b13a1852865	The prognostic value of @PHENOTYPICFEATURE$ in patients with @DISEASE$ is currently under discussion.	has_symptom
+9f26412093d5d72c75c3307c36fabee4ca61cf22	@DISEASE$ (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the @PHENOTYPICFEATURE$ form.	false
+d88e62c7530486ea998056f91935ba7979f1189d	Emotion-induced myoclonic absence-like @PHENOTYPICFEATURE$ in a patient with inv-(dup@DISEASE$ syndrome: a clinical, EEG, and molecular genetic study.	has_symptom
+0180aa978e55bc592d7fe1de77f5b36330bb04cf	Extrahepatic manifestations include mixed cryoglobulinemia (MC) vasculitis, lymphoproliferative disorders, renal disease, insulin resistance, type 2 diabetes, @DISEASE$, rheumatoid arthritis-like polyarthritis, and autoantibody production; reductions in quality of life involve fatigue, depression, and @PHENOTYPICFEATURE$.	has_symptom
+017ec38f77031b10c16a7e77caba3a1fb729b898	The @DISEASE$ (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, @PHENOTYPICFEATURE$, facial anomalies and, rarely, acral hypoplasia.	has_symptom
+a05c56052f539e2045510010162d5ddf3f3f97d1	We report here the case of a child with a known @PHENOTYPICFEATURE$ and susceptibility to @DISEASE$ who abruptly died after receiving a therapeutic dose of ondansetron.	has_symptom
+491dc14d63e4baaeb5e11f5a5b0d254e1a32ee17	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @PHENOTYPICFEATURE$, seizures, and brain death by the age of three.	has_symptom
+f0ba0359db61ff17bfc20b9c6ae80536d63e0f50	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to blindness, @PHENOTYPICFEATURE$, and brain death by the age of three.	false
+65d60ea84a10ed512e73806908e5a927147fdfc9	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @DISEASE$, @PHENOTYPICFEATURE$, and brain death by the age of three.	false
+9667a46a99d7dab0ac73842fed2e263279f6815a	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-@DISEASE$) is a lysosomal storage disorder of infants and children characterized by @PHENOTYPICFEATURE$, seizures and a progressive neurodegenerative course.	has_symptom
+5ed0366032662531fc6d6900c40828c591639e79	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-@DISEASE$) is a lysosomal storage disorder of infants and children characterized by blindness, @PHENOTYPICFEATURE$ and a progressive neurodegenerative course.	false
+bb33cfa6d679021f07e8a563acc107e6d8bce111	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-Santavuori disease) is a lysosomal storage disorder of infants and children characterized by @DISEASE$, @PHENOTYPICFEATURE$ and a progressive neurodegenerative course.	false
+244e5e9d9960bb06e60b6a59cf14593ec0aa28fb	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-Santavuori disease) is a @DISEASE$ of infants and children characterized by blindness, @PHENOTYPICFEATURE$ and a progressive neurodegenerative course.	false
+d3f2f5b4328ce71db54b651c3ad29e28786daacf	A peroxisomal disorder of severe intellectual disability, epilepsy, and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+0edf30c00964161b1fb0aea6f7ee1001645c4b15	The @DISEASE$: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, @PHENOTYPICFEATURE$, external ophthalmoplegia, and thrombocytopenia.	has_symptom
+45685ba76f163859e8a0af1ac7b91b6bd8a68ad3	Sleep-related hypermotor @PHENOTYPICFEATURE$ in @DISEASE$: a case report.	has_symptom
+adf7a9ffce3b36d502f49f375741f4ed47d05b12	A 21-year-old right-handed man with definite diagnosis of @DISEASE$ (AGU) presented with a 5-year history of progressive severe gait disturbance with frequent falls and generalized @PHENOTYPICFEATURE$ triggered by unexpected stimuli.	has_symptom
+ca19a96db95e63f45ab9d54de2f2b27f49fbc346	In a second family, 2 brothers showed bilateral microcornea, childhood @PHENOTYPICFEATURE$, ectopia lentis, rhegmatogenous retinal detachment, and @DISEASE$.	has_symptom
+9d38a943e000e1005dbce47e65c9b8e3a4af4cdc	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	has_symptom
+ecbaac4f779d8900dfa6bc4f809c2e356d3e856e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, @DISEASE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+cb9a59c69e6877297ad4e7280e194459d14f606e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, @DISEASE$, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+1eb4aefb838b7e2898f04ce03da238c7fe60f41a	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	false
+b159214352a57143526b34e03107ccca492563b7	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	false
+74abab5f394aaf0ad4a0c8fe111aaf16e1b5a31e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, @DISEASE$, Bardet-Biedl syndrome, and Usher syndrome.	false
+04dd537d53b3f58236658f806491409e3d2fec59	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including @DISEASE$, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+1ddeefa7cfe3d03086d4af89d553023032a5c827	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+45fe7a080bc042edb03bfe8cbf8510607560d63b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+a952a549817fedd8d49752870d958737c1eaec00	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, @DISEASE$, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+fc20aa485af30288e1e585ad60a5ce1a68ba1872	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, @DISEASE$, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+27e100cb1b06d7bab068334c63919c2a255364f2	Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ed8a03af3ba03154c524c91d1ba138aecc3d8eb7	Three resulting phenotypes have so far been reported: an X-linked Angelman syndrome-like condition, @DISEASE$ and corticobasal degeneration with tau deposition, with each characterized by severe intellectual disability, epilepsy, autistic behaviour and @PHENOTYPICFEATURE$.	has_symptom
+bd57598fd93b6f96c7005047071af9634018cfea	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, @PHENOTYPICFEATURE$, seizures, and behavioral abnormalities.	has_symptom
+62dbc60befc00669f95eea1d98e6aad2ab3ee25a	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, microcephaly, @DISEASE$, seizures, and behavioral abnormalities.	false
+350f58020e7f6b0771b1376b0b92671d93f9f1ac	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, @PHENOTYPICFEATURE$, and behavioral abnormalities.	false
+87f903253fdbd3b141449dbe3b02efb21ee1b37e	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @PHENOTYPICFEATURE$, ataxia, seizures, and behavioral abnormalities.	false
+9a87b275d12f72c4fb57fad3407d82d74fc6709f	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @PHENOTYPICFEATURE$, @DISEASE$, seizures, and behavioral abnormalities.	false
+bab283fbf75f6ca5f022978cb4bee37b6ff10b7b	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities.	false
+061bf75895b39f7b847c20300b3b60b762d797e3	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, and behavioral abnormalities.	false
+7d21832b141e08b9d31b38c072d00010ad5d9b71	@DISEASE$ (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, @PHENOTYPICFEATURE$, autistic behaviour (ASD), near absent speech, and epilepsy.	has_symptom
+5a21f5600344d32914585093ba276291ea1343cd	@DISEASE$ (CS) is a X-linked neurodevelopmental disorder, including severe @PHENOTYPICFEATURE$ (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy.	false
+9af03b71aaee299bc5afa15513294f49db553830	Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe @PHENOTYPICFEATURE$ (ID), progressive microcephaly, ataxia, autistic behaviour (@DISEASE$), near absent speech, and epilepsy.	false
+34043bd471d4fdc4eb627736b5608a9e55a38419	Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe @PHENOTYPICFEATURE$ (ID), progressive @DISEASE$, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy.	false
+bbb1d49de12ddcd45c20b64253d586e374320f41	Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe @PHENOTYPICFEATURE$ (ID), progressive microcephaly, @DISEASE$, autistic behaviour (ASD), near absent speech, and epilepsy.	false
+a51dcc35c79627a1dec9a5bf8150ef9aa818d493	Mutations in SLC9A6 have been reported in X-linked @DISEASE$ associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, @PHENOTYPICFEATURE$ with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.	has_symptom
+a962d268612b55640bd9d25f24a5f5ded03473ed	Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with @PHENOTYPICFEATURE$, absent speech, @DISEASE$ with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.	false
+084759276f19416641b49baad7b8d9e27c304fcf	Mutations in SLC9A6 have been reported in X-linked @DISEASE$ associating severe to profound intellectual deficiency and an Angelman-like phenotype with @PHENOTYPICFEATURE$, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.	false
+2cb9d009057915c2fc57f9bcc09fb6aa1b73540d	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, @PHENOTYPICFEATURE$ and seizures.	has_symptom
+6c81e24b6af04366473bba71816c46d12c97f4b2	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @PHENOTYPICFEATURE$, severe global developmental delay, ataxia and seizures.	false
+03825a934572c647904ba216b115bd4908c7daa8	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.	false
+d6d41d8c4c8856b6ea6b23ec0f58f47deba135b9	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by microcephaly, severe global developmental delay, @DISEASE$ and seizures.	false
+e4657a684937e51b46867dcf2de8b26e623bfef2	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8d74fd7c74793293823392b110857f9b6e02c3cd	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @PHENOTYPICFEATURE$, severe global developmental delay, @DISEASE$ and seizures.	false
+65d3d01b71147f26c73b423ab2be106dbb8b7b71	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and @PHENOTYPICFEATURE$.	false
+bc294a1e394cf2ce638a596b71d1a1c9362bc205	Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and @PHENOTYPICFEATURE$, including the family designated as having @DISEASE$.	has_symptom
+c467ad2da05d82b4c271f6eeaaf27440bf883df2	Subsequently, other mutations were found in a male with @PHENOTYPICFEATURE$ (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having @DISEASE$.	false
+2d66601a21587eae7f0b05d789efb003fa6cbb51	Subsequently, other mutations were found in a male with @PHENOTYPICFEATURE$ (MR) who had been investigated for Angelman syndrome and in two XLMR families with @DISEASE$ and ataxia, including the family designated as having Christianson syndrome.	false
+d0886d006afd212d7033c9adb4fe6eb72b9f8aa5	Subsequently, other mutations were found in a male with @PHENOTYPICFEATURE$ (MR) who had been investigated for @DISEASE$ and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome.	false
+d45c6d7fad315202e49cef6d3a163ed20d989d09	Subsequently, other mutations were found in a male with @PHENOTYPICFEATURE$ (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and @DISEASE$, including the family designated as having Christianson syndrome.	false
+c69d7e2500b61fedb0e7766343a88ded672bbede	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and @PHENOTYPICFEATURE$.	has_symptom
+89cb92a6c4eb542f67639ae0005381cf5f931939	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, @DISEASE$ behavior, early onset @PHENOTYPICFEATURE$ and ataxia.	false
+2557117cbf96225d133791d6bc401c9a03cc5e99	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, @DISEASE$ behavior, early onset seizures and ataxia.	false
+cf4bf8e28060b4cef37b689f00a1f118259adff9	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, autistic behavior, early onset seizures and ataxia.	false
+f20542903102f4cdce1e62bbe0ab751ffde7ad7d	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset @PHENOTYPICFEATURE$ and ataxia.	false
+6e4bcbd9a37a40afd4ade0767b2016c7db6dcad4	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, autistic behavior, early onset seizures and @DISEASE$.	false
+94d92fcc3076eabc1cae7cde4e8cfa2368bdae82	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset @PHENOTYPICFEATURE$ and @DISEASE$.	false
+936dbbc5b13f39aa9da34a6fd68dfa4cb75db5c3	This study reports on a 9-year-old girl who developed West syndrome and showed clinical features fulfilling the main revised diagnostic criteria for typical @DISEASE$ (hand washing, severe cognitive impairment with absence of language, @PHENOTYPICFEATURE$, progressive scoliosis and autistic features).	has_symptom
+e02457fd3278976632384c12cf9d36590e4abe95	@DISEASE$ (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, @PHENOTYPICFEATURE$, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac dysautonomia.	has_symptom
+52838a331a3c9b9505ee41818926e839ebba34dc	Rett syndrome (RTT) is a severe developmental-@DISEASE$, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, gait ataxia, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac @PHENOTYPICFEATURE$.	false
+d28ca59b8b5efdd8bcbddefa17835f7611baaa0b	Rett syndrome (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, gait ataxia, jerky truncal @DISEASE$, deceleration of brain and body organ growth and cardiac @PHENOTYPICFEATURE$.	false
+bac892e490806bfa4df9ce0d881942c4390ed528	@DISEASE$ (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, gait ataxia, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac @PHENOTYPICFEATURE$.	false
+5aac0b0a0b9fac856b8d8ac849265b539bef7756	Rett syndrome (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, @DISEASE$, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac @PHENOTYPICFEATURE$.	false
+38684636ad5b38ecb489f6858533888a3d34b152	Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with @DISEASE$, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, @PHENOTYPICFEATURE$ and stereotypical hand movements.	has_symptom
+7dd5b0e8d5014a5ec4fc677881af55bb3b1e1afb	Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, @PHENOTYPICFEATURE$, @DISEASE$ and stereotypical hand movements.	false
+2f4c92be763608b7a23e1f9b9c71d08f676b9c1e	Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with @DISEASE$, an X-linked neurodevelopmental disorder characterized by autistic features, @PHENOTYPICFEATURE$, gait ataxia and stereotypical hand movements.	false
+3c42ef648a73728fd3a2b4e29b8c1b17dd74666e	Severe adult hypersomnia--@PHENOTYPICFEATURE$ syndrome in @DISEASE$.	has_symptom
+efbee7b4ea4582c9eb89bb4aaf8fb8d2df43760b	Severe adult @PHENOTYPICFEATURE$--@DISEASE$ syndrome in craniofacial dysostosis.	false
+0f3941252ac36a16298bfa236cfb8e6b5c3b98f0	Severe adult @PHENOTYPICFEATURE$--sleep apnea syndrome in @DISEASE$.	false
+350f58020e7f6b0771b1376b0b92671d93f9f1ac	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, @PHENOTYPICFEATURE$, and behavioral abnormalities.	has_symptom
+bd57598fd93b6f96c7005047071af9634018cfea	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, @PHENOTYPICFEATURE$, seizures, and behavioral abnormalities.	false
+87f903253fdbd3b141449dbe3b02efb21ee1b37e	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @PHENOTYPICFEATURE$, ataxia, seizures, and behavioral abnormalities.	false
+b24460c3f1f8ab1a71f73f2cafdd405620706504	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @PHENOTYPICFEATURE$, ataxia, @DISEASE$, and behavioral abnormalities.	false
+0ac36f4bfab26731323798b4e2cc7f4bdceed205	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, microcephaly, ataxia, @DISEASE$, and behavioral abnormalities.	false
+bab283fbf75f6ca5f022978cb4bee37b6ff10b7b	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities.	false
+303c517e676ba27ba2e61a4337792af053a491ba	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and behavioral abnormalities.	false
+e158f36ceb430efdb4a47905e83465dca604aba1	@DISEASE$ is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset @PHENOTYPICFEATURE$ of variable types.	has_symptom
+5d56a9b64e80ece5460548ee526b361f178f3b66	Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset @DISEASE$ of variable types.	false
+f63fc7204e891294913bca7f124531a5b4e23990	Christianson syndrome is an X-linked @PHENOTYPICFEATURE$ @DISEASE$ characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+bba89227bf553f6f7449b1646a697dcb5b32d2ad	@DISEASE$ is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+1ee38b07a6836d7d3034f1dcb9ec7333caab62b1	Christianson syndrome is an X-linked mental retardation @DISEASE$ characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset seizures of variable types.	false
+5bd60eccd631555ad92319c42520df3ca3a7364c	Christianson syndrome is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset @DISEASE$ of variable types.	false
+a81d51614b144f0ede74cca294e5fc8b4ac9e4e5	Christianson syndrome is an X-linked mental retardation @DISEASE$ characterized by @PHENOTYPICFEATURE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+a1df1a925e74d6fce741819d8196cec337e613b2	@DISEASE$ is an X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+b715664a64ab3c3167293d132897ad0311f70fe5	Christianson syndrome is an X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset @DISEASE$ of variable types.	false
+7dbbbf540de43f60107a5eb377809b9521374dff	@DISEASE$ is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset seizures of variable types.	false
+65d3d01b71147f26c73b423ab2be106dbb8b7b71	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and @PHENOTYPICFEATURE$.	has_symptom
+6c81e24b6af04366473bba71816c46d12c97f4b2	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @PHENOTYPICFEATURE$, severe global developmental delay, ataxia and seizures.	false
+8ac5e6ccfc293a53b59fd3e6ba7b14f0eb5c2740	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @PHENOTYPICFEATURE$, severe global developmental delay, ataxia and @DISEASE$.	false
+03825a934572c647904ba216b115bd4908c7daa8	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.	false
+058916066f9ea510fbc73e0b6e146695ec76d920	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and @DISEASE$.	false
+2cb9d009057915c2fc57f9bcc09fb6aa1b73540d	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, @PHENOTYPICFEATURE$ and seizures.	false
+bbb5d19e8e6a205095477d5dda6e9ec7def08064	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f20542903102f4cdce1e62bbe0ab751ffde7ad7d	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset @PHENOTYPICFEATURE$ and ataxia.	has_symptom
+6a031a4fa4513bb3f6383f6ec7445757886462e4	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, @DISEASE$ behavior, early onset seizures and @PHENOTYPICFEATURE$.	false
+2557117cbf96225d133791d6bc401c9a03cc5e99	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, @DISEASE$ behavior, early onset seizures and ataxia.	false
+cf4bf8e28060b4cef37b689f00a1f118259adff9	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, autistic behavior, early onset seizures and ataxia.	false
+890f95db21590cefd3b5cb41449f9c1665702db0	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, autistic behavior, early onset @DISEASE$ and ataxia.	false
+c69d7e2500b61fedb0e7766343a88ded672bbede	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and @PHENOTYPICFEATURE$.	false
+758dba98bda5a1c8441b63207757dad770a6a956	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dafaa804cc53abe13d6c528f24ca9bddbc4a0211	Here, we investigate a unique variant of familial @PHENOTYPICFEATURE$, unrelated to multiple endocrine neoplasia and @DISEASE$, with hypercalcemia due to a point mutation in the intracellular part of the calcium receptor (CaR) gene.	has_symptom
+5e9d6d40928a8234c550548ff608f8246b9b0e2f	Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric @PHENOTYPICFEATURE$ (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome due to a @DISEASE$ deletional-frameshift mutation (c.1239delA), respectively.	has_symptom
+6275c916e2849f0b74ce99867cec14a577e67da0	Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric hypercalcaemia (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the @PHENOTYPICFEATURE$-jaw tumour (HPT-JT) syndrome due to a @DISEASE$ deletional-frameshift mutation (c.1239delA), respectively.	false
+3af223cfaed016d31f278512193932bf4fa03809	Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric hypercalcaemia (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome due to a @DISEASE$ deletional-frameshift mutation (c.1239delA), respectively.	false
+f91ed54d9bf9d11fddb2a2318991b338d9fcbbac	Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric @DISEASE$ (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome due to a hyperparathyroidism type 2 deletional-frameshift mutation (c.1239delA), respectively.	false
+e210c02d5384be6589527fed7181c9ea11d8b903	Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric @DISEASE$ (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the @PHENOTYPICFEATURE$-jaw tumour (HPT-JT) syndrome due to a hyperparathyroidism type 2 deletional-frameshift mutation (c.1239delA), respectively.	false
+0c204cffc7e519b98308adec396f376efc991441	PHPT may be sporadic or familial, the latter comprising multiple endocrine neoplasia type 1 or 2A, familial benign hypocalciuria @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+e3c37926d4a82c5f7495d8119592b473a00f717f	M?n?trier's disease (MD) is a rare @DISEASE$ characterised by giant rugal folds, hypochlorhydria, protein loss and a classic constellation of symptoms (nausea, @PHENOTYPICFEATURE$, abdominal pain and peripheral oedema).	has_symptom
+b2c5c678f49db91447c1b7a127fc4d8f1fabb65f	@PHENOTYPICFEATURE$ and hyperprogesteronism in a cat with an @DISEASE$.	has_symptom
+0b5777bc358912d6aa74c6f340a4a3d71f5dc7cc	We report a case of rapidly progressive stage IV @DISEASE$ with initial presentations of hypokaelmia and hypertension, mimicking @PHENOTYPICFEATURE$.	has_symptom
+ec588a1eeaebf1bdeee79366b6f9b94634bfb9b8	eyes, which included corneal ulcer (7.37%), @DISEASE$ (6.55%), endophthalmitis (4.91%), extra-ocular muscle cysticercosis (4.91%), orbital @PHENOTYPICFEATURE$ (4.09%), periocular haemorrhage (2.45%), proptosis(1.63%),	has_symptom
+4d1ae5e4c6bff565c2c5dac0ac9002310b03b1ed	The paper deals with the diagnosis of optic nerve atrophy caused by temporal @DISEASE$ (Horton's disease) and shows how difficult to make a differential diagnosis between glaucoma and other non-eye diseases that also induce @PHENOTYPICFEATURE$.	has_symptom
+0dab36cf8e7d26c30f8661287943a960dc8549ed	The paper deals with the diagnosis of @PHENOTYPICFEATURE$ caused by temporal @DISEASE$ (Horton's disease) and shows how difficult to make a differential diagnosis between glaucoma and other non-eye diseases that also induce optic nerve atrophy.	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+3e45a8380e2c4b27e5feb7c56b0988459c1a12ce	The main areas of interest include: papilledema and @PHENOTYPICFEATURE$ (with ophthalmoscopic signs of both optic atrophy and papilledema); @DISEASE$; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; pigment anomalies; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	has_symptom
+6c5d39f524211b4b2e1cdf643c9bd7fe1f64d803	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both @PHENOTYPICFEATURE$ and papilledema); @DISEASE$; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; pigment anomalies; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	has_symptom
+f8b99d0d790280f953b1ac47bd297b773fe55e94	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); @DISEASE$; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+66dd1199b55ff6872a2ffae0b4408be73dad1593	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, @DISEASE$, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+e9c134f05279a1e881aadd2256bdc3c8fc6b24ed	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of @DISEASE$; new uses for old field tests; and new methods of ocular photography.	false
+9fbdc9e9f49a12f0b36e30be3746ede52ef863bb	The main areas of interest include: papilledema and @DISEASE$ (with ophthalmoscopic signs of both optic atrophy and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+0a5954276a384d72f203f2a545b3381a6764db3a	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and @DISEASE$); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+2da2afde284af4bf9bdc558a3c1e8d34ae33f49c	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of @DISEASE$ with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+94c4d23e2dd7f094ab5738a8b136ad28473268d0	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of @DISEASE$; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+f7df5caa07f9fa48b0938fc47eeb7be680d268ca	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both @DISEASE$ and papilledema); giant-cell arteritis; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+0bc92783b4a3e61bc7f13e7c95158baf2be55f73	@DISEASE$ with associated @PHENOTYPICFEATURE$.	has_symptom
+5117d4fdccd872547f9cbd657dfd475f13355156	Titin-truncating variants are associated with @PHENOTYPICFEATURE$ events in patients with @DISEASE$.	has_symptom
+78b8259561f77d744c2a9a9acde253d13fc80e9c	Postnatal echocardiography confirmed @DISEASE$ with severe @PHENOTYPICFEATURE$.	has_symptom
+9c5c359e2055689e47648923c33ea526ae16f5eb	@DISEASE$ (LVNCC) is a rare disease that starts in utero and may progress to @PHENOTYPICFEATURE$ (HF), sometimes requiring orthotopic heart transplantation (OHT).	has_symptom
+769ffabef8ae880b11b848318a5f52149f1bf0fd	Case presentation commentary on "Rosai-Dorfman disease and @DISEASE$ cardiomyopathy: A @PHENOTYPICFEATURE$ conundrum."	has_symptom
+63e5ababcbef8ea20585235944f6cb3213efbc7f	Rosai-Dorfman disease and @DISEASE$ cardiomyopathy: A @PHENOTYPICFEATURE$ conundrum.	has_symptom
+fdf31a762f78cd354e84b81f891709f4305e12cc	@DISEASE$ (LVNC) is a distinct and heterogeneous entity that can lead to progressive cardiac dysfunction and @PHENOTYPICFEATURE$.	has_symptom
+b66983cb3685a8af80be937a3eba83cdafed8cfa	@DISEASE$ (LVNC) is an increasingly recognized cause of @PHENOTYPICFEATURE$, arrhythmia, thromboembolism, and sudden cardiac death.	has_symptom
+d82ba53157dd8810285424b8c4011d2310ba3cb2	Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of @DISEASE$, @PHENOTYPICFEATURE$, thromboembolism, and sudden cardiac death.	false
+03341ca48e415a187fabd77df165464c669ad365	@DISEASE$ (LVNC) is an increasingly recognized cause of heart failure, @PHENOTYPICFEATURE$, thromboembolism, and sudden cardiac death.	false
+35a9a7a758be44ce40c33da8b71db112657fa077	In this article, we describe three patients with @PHENOTYPICFEATURE$ whose 2D echocardiograms showed @DISEASE$ characterized by prominent trabeculation with deep intertrabecular spaces in the myocardium.	has_symptom
+046d9a6dee5b1ef04e2aa6a9092bd3e007241a6a	Spontaneous facial swelling after @PHENOTYPICFEATURE$ surgery in a patient with @DISEASE$.	has_symptom
+15836e42d1c54eca3d999c9583045dc2d99c66e8	@DISEASE$ ataxia (POMA) is a neurologic disorder thought to be mediated by an autoimmune attack against onconeural disease antigens that are expressed by gynecologic or @PHENOTYPICFEATURE$ and by neurons.	has_symptom
+e5209420215954b6f285e28a3ff62fc50595d832	@DISEASE$ @PHENOTYPICFEATURE$ (POMA) is a neurologic disorder thought to be mediated by an autoimmune attack against onconeural disease antigens that are expressed by gynecologic or lung tumors and by neurons.	false
+05db5e38998d18a166b918178c68ed6b2225af06	Paraneoplastic opsoclonus myoclonus @PHENOTYPICFEATURE$ (POMA) is a @DISEASE$ thought to be mediated by an autoimmune attack against onconeural disease antigens that are expressed by gynecologic or lung tumors and by neurons.	false
+979569e70dbd86357844da8ff913c0dd0427f74d	Paraneoplastic opsoclonus myoclonus @PHENOTYPICFEATURE$ (POMA) is a neurologic disorder thought to be mediated by an autoimmune attack against onconeural disease antigens that are expressed by gynecologic or @DISEASE$ and by neurons.	false
+07dc7fc95f34ceda278e3a96ff95addeba3715c2	Patients with @DISEASE$, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable @PHENOTYPICFEATURE$ together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, cryptorchidism, clotting disorders, and short stature.	has_symptom
+794ae55ac8536d7412b200b03bee13ef4235c718	Patients with @DISEASE$, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, @PHENOTYPICFEATURE$, visual problems, cryptorchidism, clotting disorders, and short stature.	false
+adfb01c47ab90b822dcdbf4de3799001d8483384	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, @DISEASE$, clotting disorders, and @PHENOTYPICFEATURE$.	false
+38046bea49fb1f1aa311b28343b877dd1fde1fba	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, @PHENOTYPICFEATURE$, visual problems, @DISEASE$, clotting disorders, and short stature.	false
+160eb4491e883f77d529e69d16d7db6b7b8e6e9d	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable @DISEASE$ together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, cryptorchidism, clotting disorders, and @PHENOTYPICFEATURE$.	false
+0fee43b1a66bacfe69d5af6d9f08c59c3caf97e5	Patients with @DISEASE$, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, cryptorchidism, clotting disorders, and @PHENOTYPICFEATURE$.	false
+d1af24ab26d75a9d62a0ef4d9def204c2b283b78	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable @DISEASE$ together with features such as pulmonary valvular stenosis, dysmorphism, @PHENOTYPICFEATURE$, visual problems, cryptorchidism, clotting disorders, and short stature.	false
+660e43a2b96b03a9e41858ab9294ddfe1d3e0ee5	We describe a family with progressive skeletal dysplasia and severe spinal involvement, short stature, premature arthrosis and @PHENOTYPICFEATURE$ diagnosed as @DISEASE$ Omani type.	has_symptom
+c76756a6c5ad65489e2e557fce019d122978827f	We describe a family with progressive @PHENOTYPICFEATURE$ and severe spinal involvement, short stature, premature arthrosis and @DISEASE$ diagnosed as spondyloepiphyseal dysplasia Omani type.	false
+eb03657e46731610ce6c84c56b8e1995e9bf549d	We describe a family with progressive skeletal dysplasia and severe spinal involvement, @PHENOTYPICFEATURE$, premature arthrosis and @DISEASE$ diagnosed as spondyloepiphyseal dysplasia Omani type.	false
+274dd466ddddf420f2fabab2816e52b6d47a9c67	We describe a family with progressive skeletal dysplasia and severe spinal involvement, @PHENOTYPICFEATURE$, premature arthrosis and joint contractures diagnosed as @DISEASE$ Omani type.	false
+0a4968f4948b2f7f83b3125835a12abfa55a8a5a	We describe a family with progressive @PHENOTYPICFEATURE$ and severe spinal involvement, short stature, premature arthrosis and joint contractures diagnosed as @DISEASE$ Omani type.	false
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	has_symptom
+49674d323e00e245bce5fb0f1a91a5c6c0dd3367	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+a934b82a4b5b03005c41e117dfafbdd35c601c76	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @DISEASE$ in one child.	false
+b336a121c37c9a248558390136d6a3484e38b034	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+d9c1f0b741634801780e31896428763c3114d88a	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable @DISEASE$ in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+e879fba77423dad7b21a0d061a1491879a761717	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable @DISEASE$ in one child.	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+ac4aba4cf0a583c00cbbd5c095de8fb3876539c6	A 34-year-old man with partial @DISEASE$ suffered from @PHENOTYPICFEATURE$ and mental retardation from the age of three years.	has_symptom
+2a2a4ac7e12a591bac8207719ca6c7b813d3f461	A 34-year-old man with partial @DISEASE$ suffered from seizures and @PHENOTYPICFEATURE$ from the age of three years.	false
+231b2a8f6d39b421237436e252f7212a33c96e74	A 34-year-old man with partial DiGeorge syndrome suffered from @DISEASE$ and @PHENOTYPICFEATURE$ from the age of three years.	false
+576b9352a2ba3a63c5516d9c38561296ef75fe51	@PHENOTYPICFEATURE$ and EEG findings in an adult patient with @DISEASE$: a case report and review of the literature.	has_symptom
+fc9d8464a9b060f7db0564fd98c9cd67b3487c69	We present two patients with poorly controlled @PHENOTYPICFEATURE$ that turned out to be caused by @DISEASE$ with hypocalcemia.	has_symptom
+bb824cb885dcbb36f8a6f951c014491930251e0d	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	has_symptom
+7c500c5b306eb8fbedfe4b2b98f006dcc55c02cb	Postnatally, the patient presented with @DISEASE$, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+261d45696d9a713a7c8c7c582cceba34c1bbbbdb	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+7944d537e9021233e135ecc09ddfe4ab7bf9eac9	Postnatally, the patient presented with seizures, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as @DISEASE$.	false
+31960081815ef5c9a276ceeb734c5a9c3988984d	Postnatally, the patient presented with @DISEASE$, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+2e7d5b5adcebb69b8aff1c26dbb2db3ebd341a99	We report, for the first time, the case of a patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+0ff64ac21c119a50d180b080d7aed12f1eb8a0a6	We report, for the first time, the case of a patient with DiGeorge syndrome with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @DISEASE$ and epilepsy.	false
+f95abd1dc6bdf3e5f076dbe1820ea465c1356187	We report, for the first time, the case of a patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizures and epilepsy.	false
+a43b41b7cc0fe58cb9d854655aeb1a1a5fa14ddf	A patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+a1ddcfad9151863fcd9cb67cdf29ac48ab2a26a8	A patient with DiGeorge syndrome with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @DISEASE$ and epilepsy.	false
+365234afef1b870e8976c0c4e8b7636e1112bb71	A patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.	false
+4d5b5c5c4b6664251e5c0114b5854cc25ea53736	The very rare @DISEASE$ with a novel finding of @PHENOTYPICFEATURE$.	has_symptom
+98c3be9462486954156aa7a8809fe354cc649e6f	MEK inhibitors block growth of lung @PHENOTYPICFEATURE$ with mutations in @DISEASE$ mutated.	has_symptom
+a0e422445ae5ba802a1c96ef1a2cad17e9c1fe3f	Common genetic changes in leiomyosarcoma and gastrointestinal stromal @PHENOTYPICFEATURE$: implication for @DISEASE$ mutated involvement.	has_symptom
+bcc6868bc79339d56005985aa0eb2b6175b56817	@DISEASE$ mutated (ATM) is an important @PHENOTYPICFEATURE$ suppressor gene	has_symptom
+3b236344f52c2918df69c3f96e5a7a385ace9ee1	Novel 1p @PHENOTYPICFEATURE$ suppressor Dnmt1-associated protein 1 regulates MYCN/@DISEASE$ mutated/p53 pathway.	has_symptom
+6f63a41d285f0e997b3639931837090fa8122b0b	@PHENOTYPICFEATURE$ and chromosomal breakage in @DISEASE$: a 2:14 translocation.	has_symptom
+7c7be30950161ed4866038ecfa961808ef7ac21b	It also contains loci such as @DISEASE$ with possible importance in the pathogenesis of breast @PHENOTYPICFEATURE$.	has_symptom
+8f6590c788c148d90f241fcd8fd5d4cf0e74bad3	Cancer in @DISEASE$ patients: analysis of factors leading to radiation--induced and spontaneous @PHENOTYPICFEATURE$.	has_symptom
+0a8198ee16d834320b8d144df09777dcf57ab59e	During her diagnostic work up for HSTCL, paired @PHENOTYPICFEATURE$-germline sequencing identified a diagnosis of @DISEASE$.	has_symptom
+d46fba3327fca2af1cc64cb407664eef30634cb8	Lymphoid tumours and breast cancer in @DISEASE$; substantial protective effect of residual ATM kinase activity against childhood @PHENOTYPICFEATURE$.	has_symptom
+43813a7a52ba9c31bbf976af3a519983e121a16b	Lymphoid @PHENOTYPICFEATURE$ and breast cancer in @DISEASE$; substantial protective effect of residual ATM kinase activity against childhood tumours.	has_symptom
+cd74b6411a719ed6bb83e9de8117babfd32ce07b	We also highlight the significance of the Hippo pathway activator RASSF1A @PHENOTYPICFEATURE$ suppressor, a direct target of ataxia telangiectasia mutated and @DISEASE$ and Rad3 related ATR.	has_symptom
+23559a861cc03d4fb49fac7d1967984217ad9f9f	We also highlight the significance of the Hippo pathway activator RASSF1A @PHENOTYPICFEATURE$ suppressor, a direct target of @DISEASE$ mutated and ataxia telangiectasia and Rad3 related ATR.	has_symptom
+d5466cf78735fad04e1189af48948e01d6a3f3a4	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	has_symptom
+14784dc7455e2b896737622d83cc1aec75008b89	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @PHENOTYPICFEATURE$, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+2d42928e13c2c09127ba686ea2f266bda7dbcfbc	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+3a2f96db7afacc87000be55219a9361b07456a1c	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @PHENOTYPICFEATURE$, congenital cataracts, @DISEASE$, skin changes, and failure to thrive.	false
+d4721604a89d47a7f192c23b08f079c91a3902dd	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, mental retardation, congenital cataracts, @DISEASE$, skin changes, and failure to thrive.	false
+2225074c16d469f63b3039852a17da7c5ce60658	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+2b84a6ca6c79a114635ae0a8ed3618d527a232da	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, @DISEASE$, skin changes, and @PHENOTYPICFEATURE$.	false
+1aee86a70efbfb5b4608103c7db498cbd6a99bda	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+2cae15f393621832d15a0d9997035beb7ee86b55	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+142f294f69a37ec88ea518e6f0d7dbb261ad80e3	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @PHENOTYPICFEATURE$, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+e4dfd402f77130f7bfbf65e3f9be3a3e29286163	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital cataracts, @DISEASE$, skin changes, and failure to thrive.	false
+baea1ba77b55569d39c7479c7ea832f0e3ae45e3	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+943197d887463c0e53bc852654ca9dafd2a32aa4	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+c6146018341179dd8acfa1135a6e1ee633105ba0	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, @PHENOTYPICFEATURE$, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation.	has_symptom
+13cedef2fdd022fe6fbedb26175dfe20d62996b6	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and @PHENOTYPICFEATURE$.	false
+3690b2b378dd3c78f49a31000d174b7400769471	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive @DISEASE$ characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and @PHENOTYPICFEATURE$.	false
+63561ac947754079f55ae9b5332f47265452f8ba	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital @DISEASE$, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+8e6128d8516e3944ab877e1f60318d9493b9e41f	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, @DISEASE$, congenital cataracts, facial dysmorphia, severe psychomotor defects and @PHENOTYPICFEATURE$.	false
+7f7580bba793ae13561872a6acb18f9affa6d242	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive @DISEASE$ characterised by rhizomelia, contractures, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+3ea59042c20e92a2f6d15dcb2dd1e3bce3a2a0af	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+3d0c0f6d6765b9faee0b3e7bd82707aa0a27f370	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, @DISEASE$, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+e387241f4d598d8cbf0176f6ef844f362f795084	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital @DISEASE$, facial dysmorphia, severe psychomotor defects and @PHENOTYPICFEATURE$.	false
+51794712c2bfecb20f99e8c1640e37f9e228d9e8	In the present study, close ophthalmologic examinations were performed on 11 patients with @DISEASE$, and we found myopia, weakness of the orbicularis oculi, congenital nystagmus, cortical blindness, @PHENOTYPICFEATURE$, chorioretinal degeneration, etc.	has_symptom
+addf5f5e42cf5713077957c8241017c711d4e69a	Our survey of 33 cases with @DISEASE$ revealed that high myopia and @PHENOTYPICFEATURE$ are common in FCMD.	has_symptom
+0b568e224fb35ca869dfa6aeb0c533eed60df654	Our survey of 33 cases with FCMD revealed that high myopia and @PHENOTYPICFEATURE$ are common in @DISEASE$.	has_symptom
+b8da0bf1059ce640fd9939ef2fa08fa80950dcae	Lenz @DISEASE$ is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).	has_symptom
+63e815414c3834f3ae8387807ff853d1f9460fea	Lenz @DISEASE$ is inherited in an X-linked recessive pattern comprising @PHENOTYPICFEATURE$/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).	false
+19f819c96b30785524498920b51b2ef7af69e2b4	Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, @DISEASE$, malformed ears, digital, skeletal, and urogenital anomalies (synonym: @PHENOTYPICFEATURE$ with associated anomalies (MAA)).	false
+84b3704848798cfe490b19399bc2004c31b470b6	Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising @PHENOTYPICFEATURE$/anophthalmia, @DISEASE$, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)).	false
+65d9a11cb63f0072908ad56c986f42b6034d5bf7	Lenz @DISEASE$ is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: @PHENOTYPICFEATURE$ with associated anomalies (MAA)).	false
+663cec2c0188c5d692cd7c6b6d92e7bc6f2b385c	Lenz @DISEASE$ comprises microphthalmia with @PHENOTYPICFEATURE$, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.	has_symptom
+e9ab99bbd7305635dec8d27fcd0c7581815fb028	Lenz microphthalmia syndrome comprises microphthalmia with @DISEASE$, malformed ears, @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+5ff3e3e0350dd2a4642fa3bee6d0d22ec8818bf8	Lenz @DISEASE$ comprises microphthalmia with mental retardation, malformed ears, @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+10a5cfb534ba5049e18bc27f5a4aa33cb356f753	Lenz @DISEASE$ comprises @PHENOTYPICFEATURE$ with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+9a7866a336a5bec769775eda4cfd895266939e77	Lenz microphthalmia syndrome comprises @PHENOTYPICFEATURE$ with @DISEASE$, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+2ee2ede110f998c0f813e06f20fab88239525584	Lenz @DISEASE$ comprises microphthalmia-anophthalmia with @PHENOTYPICFEATURE$, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern.	has_symptom
+0b4399c32057dab273383363121881dc0e16e0de	Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with @DISEASE$, malformed ears and @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+9f86a696b0de03018922c6c213f2908c649f02d9	Lenz @DISEASE$ comprises microphthalmia-anophthalmia with mental retardation, malformed ears and @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+e492fc50e57e3531c4e07e2bcc9c24d3f88af32d	Lenz @DISEASE$ comprises @PHENOTYPICFEATURE$-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+aec5df2afab1dd78a9b0fce456d52b1ca74813a6	Lenz microphthalmia syndrome comprises @PHENOTYPICFEATURE$-anophthalmia with @DISEASE$, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern.	false
+466082249acecd841ec8f26170e7412f94d82344	BCOR analysis in patients with OFCD and Lenz @DISEASE$, @PHENOTYPICFEATURE$ with ocular anomalies, and cardiac laterality defects.	has_symptom
+5608868e28ebcef4a8975233fd7b02d2336d27db	Lenz @DISEASE$ and oculo-facio-cardio-dental syndrome (OFCD) are allelic X-linked syndromes and similarly characterized by ocular, distinctive facial morphology, cardiac, dental malformations and @PHENOTYPICFEATURE$.	has_symptom
+9baee886580ded21c5f582511a97fa67aa473995	Lenz @DISEASE$ is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, @PHENOTYPICFEATURE$, external ear, digital, cardiac, skeletal, and urogenital anomalies.	has_symptom
+c9890fdd9ed579870e4553c3d372a69273696677	Lenz @DISEASE$ is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, @PHENOTYPICFEATURE$, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies.	false
+9f7d1b5045bbf6a39812d0bd5712e9ac298937e9	Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, @PHENOTYPICFEATURE$, @DISEASE$, external ear, digital, cardiac, skeletal, and urogenital anomalies.	false
+6bf07f4a5bade2978a8cb0b2525a6049ecc9ffbd	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, hyperlipidemia, essential @PHENOTYPICFEATURE$, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of @DISEASE$ and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	has_symptom
+c2c9b1c098cffc4ea6d1df0329676a646312e4ab	Obesity, atherosclerosis, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of @DISEASE$ and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+863b3539d4b452200374913c7f685b6701a12074	Obesity, atherosclerosis, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential @DISEASE$, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+037c13c806378fd1526cdda156a72eca6b7a1d56	Obesity, atherosclerosis, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential hypertension, @DISEASE$, and coronary heart disease (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+f10ee5a58287db464058f392341fb0078cfaae7f	Obesity, @DISEASE$, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+6db66fa53b555e4dda21421101bf43a2647aca12	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential hypertension, type 2 diabetes mellitus, and @DISEASE$ (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+4d2027b9f3e41f916a868d0456292391c6e8437e	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential @DISEASE$, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+2f823851db57e46d52f85fb8240a902afc48ba8a	Obesity, atherosclerosis, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential hypertension, type 2 diabetes mellitus, and @DISEASE$ (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+1afe4f014a76d4d00e18957068a2995e3e0cc813	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential hypertension, @DISEASE$, and coronary heart disease (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+1d1deba2eda0be703bbac2b7aa9a4b9d42adfb4c	Obesity, @DISEASE$, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+5b5b0e1be8e3b30c6a2ffeb09072cb842eeef587	Obesity, atherosclerosis, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (@DISEASE$) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+ee8e748785e9ce157639fb7c0b58e44f2f4a2716	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of @DISEASE$ and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+8f4cb910b4c2d815d2f66edcd620b1fc23a20807	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (@DISEASE$) are the components of metabolic syndrome X and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+6bd9d2d831ad545535dbeffe221e4537ce89ee60	On the association of @DISEASE$ and primary @PHENOTYPICFEATURE$.	has_symptom
+43572c31fb2ea667cf5065d72e34f4e2d61e2cba	GAP-43 proteins are not only associated with intrinsic epileptogenicity but may be markers of progressive epilepsy and predictors of postoperative @PHENOTYPICFEATURE$ outcome in patients with pharmacoresistant @DISEASE$ IIA/B.	has_symptom
+0a06acf17f1ca54f1efd06b8e4ccb72d5ed72cc8	During presurgical multimodality evaluation, localization of the extent of the epileptogenic zone in at least 2 imaging modalities helps achieve @PHENOTYPICFEATURE$ freedom in about two-thirds of patients with refractory @DISEASE$.	has_symptom
+5fdb5ebc7616a1a4e784250a7292bfe4390f238c	Trehalose attenuates the @PHENOTYPICFEATURE$ and gliosis of @DISEASE$ mice.	has_symptom
+713e6ab297f819d8a90f0467ce2d45bac2999c55	@DISEASE$ (EMPD) is a rare cutaneous @PHENOTYPICFEATURE$.	has_symptom
+79a364b37df77049d5ce074df377614fdc8e3c7d	Collision @PHENOTYPICFEATURE$ of @DISEASE$ and melanoma.	has_symptom
+475793923516adc7da94993cfb7c509d19bb27ac	@DISEASE$ (EMPD) sometimes shows an ill-defined border and an unexpectedly extended @PHENOTYPICFEATURE$ spread beyond the clinical borders.	has_symptom
+0ddd1e02971383a38bdb38380929a631a0346eea	@DISEASE$ is a rare cutaneous @PHENOTYPICFEATURE$ that most frequently affects the vulva.	has_symptom
+0536d318d117778bf7c2e6271cb8adf0ec1d0f50	@DISEASE$ is an uncommon skin @PHENOTYPICFEATURE$ occurring mostly in the genitoperineal region.	has_symptom
+9e215436f1d2c9f1e94c643e5b284e8fef1bd485	Hidradenoma papilliferum and @DISEASE$ were the most common benign and malignant adnexal @PHENOTYPICFEATURE$, respectively.	has_symptom
+d9b52cdcb224d9fd92beca4037d0b200e0379fc9	@DISEASE$ (EMPD) is a rare perineal @PHENOTYPICFEATURE$ associated with a high rate of local recurrence.	has_symptom
+f557e95e941049a68ea023ba96875b836b72b3f3	A proposal for a TNM staging system for @DISEASE$: Retrospective analysis of 301 patients with invasive primary @PHENOTYPICFEATURE$.	has_symptom
+9ee71b3607248fa9ba8e2722fb85e237114bb3d7	@DISEASE$ is a rare @PHENOTYPICFEATURE$ that often is associated with multiple recurrences after wide local excision.	has_symptom
+1a04742322a062aacfa0725e1db437d047860318	Most reported cases of vulvar sweat gland carcinomas associated with @DISEASE$ describe a @PHENOTYPICFEATURE$ of apocrine origin.	has_symptom
+1ddfb9c24c761d8b9aef2f0a4e1470ac7d4d0d1a	5 infants suffering from bilateral atresia also had severe malformations (@DISEASE$ [2 patients], trisomy 18, microcephalus, central cranioschisis, cleft lip and @PHENOTYPICFEATURE$ 9).	has_symptom
+e78a85457e0ee9216760e82e66574cce55685c80	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, cataract, and sensorineural hearing loss.	has_symptom
+73f0fd91894f0955d5ffb4c05dfd9cee703c76e5	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+127c5bd253853ad7963ea99ce6278c429b3a2e03	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+57321a3711e864fd41c002290f6846e68f670f3d	Cockayne syndrome is a rare autosomal recessive @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+407c50d25c8ae2bd1a2de601a02b1fc2b96f566e	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @DISEASE$; pigmentary retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+d082dbf922943c6c450441330d3d2325023892d9	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; @DISEASE$ retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+a508d5684ea45d127fb7d71315358ce3ce0adcc2	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @DISEASE$; pigmentary retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+4acbdb46ed4cdf1b6c904854a1d264ffd28222ac	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; @DISEASE$ retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+f3b8e5b5e488d5b9c42d2c326ae0d3b2d9ca1499	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary @DISEASE$, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+4a81eb60d5c8ddbf1d12e13a1ada3646d0def6be	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary @DISEASE$, cataract, and @PHENOTYPICFEATURE$.	false
+828b6ae1d96816b662771d77822b2233bd86282c	Cockayne syndrome is a rare autosomal recessive @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+f0521d0724c68fec9119a76c1a1cc7ad978b324f	The @DISEASE$ is a rare autosomal recessive disease characterized by a general developmental delay, the unique face, and abnormal skin @PHENOTYPICFEATURE$.	has_symptom
+4c1c785ec5686762e0d97140f0be7b92ac102b9a	We report here on two siblings who show no clinical manifestations except for slight @PHENOTYPICFEATURE$ and cutaneous pigmentation but have biochemical characteristics of @DISEASE$ (CS).	has_symptom
+976f42f30a1fd6be0b902e1adcc0021ba8587835	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include @PHENOTYPICFEATURE$.	has_symptom
+fb9d8a6ee73efb985e417e4ced06575d4a364d66	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, @PHENOTYPICFEATURE$ and otherwise clinically heterogeneous features which commonly include @DISEASE$.	false
+91b9d29a2c9289a00f372a51a0288d7af0f0e34c	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, @PHENOTYPICFEATURE$ and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity.	false
+6640c4ed8cd241f1b12425cd6f64652c07c6257e	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.	has_symptom
+cf9d3259a95e5fd0f14ee2bb965494b4c2e39ec4	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @DISEASE$, pigmentary retinopathy and/or cataracts, and @PHENOTYPICFEATURE$.	false
+d10da3ded3faa331f15607afec11bf545656c8ad	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @DISEASE$, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+c526bd20cf649d6e32d420caedbe0042861dc145	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and @PHENOTYPICFEATURE$.	false
+2a7b7434ec98db6785adb938455657a8d5a9a3c8	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary @DISEASE$ and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+dc202672d589dd85c14c63ae0f6b0c4d2c4355bf	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+a15073af271a5f6ca9d6a39c4cb3211c8fb528bd	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+62786319fb21cf540bf15190fe8ff1656178a8af	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and @PHENOTYPICFEATURE$.	false
+c46aa4c11e55328c6982e82ca5a221d77b8e901b	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary @DISEASE$ and/or cataracts, and @PHENOTYPICFEATURE$.	false
+5f20caa202139ee29f9e6dea90266da2d7ada9bf	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @PHENOTYPICFEATURE$, short stature, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	has_symptom
+c727879350f94b458991a5dfb7c9fa329b7c33f5	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature, and @PHENOTYPICFEATURE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+58a9add18947c0a93cf01626dd45ffe6a7fccb9a	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, @PHENOTYPICFEATURE$, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+565657639c21abc7f6bfe28e33d53185ebb76637	Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @DISEASE$, @PHENOTYPICFEATURE$, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+4fa192f0f59113efadcb239f6a56fcae36936f7f	Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @DISEASE$, short stature, and @PHENOTYPICFEATURE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+3cfc91c502cbb522144a317dc651aace675a24e0	Onset was consistently between 14 and 20 months of age with clusters of complex-partial or @PHENOTYPICFEATURE$ and a high rate of febrile seizures, which have not been described for @DISEASE$ previously.	has_symptom
+b61e55da219a0b283bb16448e90df1beec298e6d	Onset was consistently between 14 and 20 months of age with clusters of complex-partial or generalized tonic-clonic seizures and a high rate of @PHENOTYPICFEATURE$, which have not been described for @DISEASE$ previously.	false
+59146b239d8d1ae95c316210cef2b8a71b10312e	Onset was consistently between 14 and 20 months of age with clusters of complex-partial or @DISEASE$ and a high rate of @PHENOTYPICFEATURE$, which have not been described for BFIS previously.	false
+916534e0c82ce945710f089f5bbc0c53a6035cea	@DISEASE$ is characterized by an acute phase with or without symptoms, and with entry point signs (inoculation chagoma or Roma?a's sign), @PHENOTYPICFEATURE$, adenomegaly, hepatosplenomegaly, and evident parasitemia, and an indeterminate chronic phase (asymptomatic, with normal results from electrocardiogram and x-ray of the heart, esophagus, and colon) or with a cardiac, digestive or cardiac-digestive form.	has_symptom
+ea9bdefcc2261c8509e17a48801e18b04c3444bb	Tuberculosis, Leprosy, @DISEASE$, Malaria, Leishmaniasis, Dengue, Yellow @PHENOTYPICFEATURE$ and Measles are the topics included in this review.	has_symptom
+90559e8cf03cf2773588995b3032f282ef9ec9e4	Two cases of acute @DISEASE$ in schoolchildren of 6 and 13 years of age, both with the clinical features of Roma?a's sign, regional lymphadenopathy, and @PHENOTYPICFEATURE$, have a history of coexistence and the bite of the transmitter, and live in housing constructed with material considered at risk for infestation by the vector; i.e. roof and walls with palma/zacate (palm tree, grass leaves), dirt floor, and inadequate illumination and ventilation.	has_symptom
+d333b66a756e8fd5e9ce6c6f7982c7d935ac8e78	The major neglected infections include the helminth infections, toxocariasis, strongyloidiasis, ascariasis, and cysticercosis; the intestinal protozoan infection trichomoniasis; some zoonotic bacterial infections, including leptospirosis; the vector-borne infections @DISEASE$, leishmaniasis, trench fever, and dengue @PHENOTYPICFEATURE$; and the congenital infections cytomegalovirus (CMV), toxoplasmosis, and syphilis.	has_symptom
+671c5d192387ee6269fc96c83f00d1ba53ade766	A 37-year-old hemophiliac patient with known, asymptomatic human immunodeficiency virus infection and chronic @DISEASE$ was admitted to the hospital complaining of @PHENOTYPICFEATURE$ and headache.	has_symptom
+89b083675b676285745fa654d724e91711446002	@DISEASE$ is characterized by an acute phase with or without symptoms, with (or more often without) T. cruzi penetration signs (inoculation chagoma or Roma?a's sign), @PHENOTYPICFEATURE$, adenomegaly, hepatosplenomegaly and patent parasitemia; and a chronic phase: indeterminate (asymptomatic, with normal electrocardiogram and heart, esophagus and colon X-rays) or cardiac, digestive or cardiac/digestive forms.	has_symptom
+c3ffa9d6a108342d1a27cefe99560b0d35d34dbf	Other clinical manifestations of @DISEASE$ include cardiomyopathy, seizures, @PHENOTYPICFEATURE$, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	has_symptom
+c70a568b32329e0e4f8a2a18f668ed6558ecf7ae	Other clinical manifestations of SIFD include @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+6cd7bb0622f18178b7757b36b3ca41682f637438	Other clinical manifestations of SIFD include cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+5061c2127e1318dface062bb320020c82c23d6bb	Other clinical manifestations of @DISEASE$ include cardiomyopathy, @PHENOTYPICFEATURE$, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+20f25769a696bb9dff1fdf34c3636cda5277c421	Other clinical manifestations of SIFD include cardiomyopathy, @PHENOTYPICFEATURE$, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and @DISEASE$.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+92623ada2fc8d0abff0806b50280fd16f2043e02	Autosomal dominant de novo mutations in SYNGAP1 are a cause of @PHENOTYPICFEATURE$ (ID) and autism spectrum disorder (ASD), including @DISEASE$ (MRD5).	has_symptom
+1ec5c1dba1c4243f8173bb6b1baff277ef0ebee4	To determine the prognosis for resolution of abnormal @PHENOTYPICFEATURE$ in patients with @DISEASE$ (also known as the photosensitivity dermatitis and actinic reticuloid syndrome).	has_symptom
+4b6cbe4d486808e955da2e178f999540348d8bae	To determine the prognosis for resolution of abnormal @PHENOTYPICFEATURE$ in patients with chronic actinic dermatitis (also known as the photosensitivity dermatitis and @DISEASE$ syndrome).	has_symptom
+a5ba074e6eab1ad2cc35d027dfe25859cec73c01	@DISEASE$ (CAD), a @PHENOTYPICFEATURE$ dermatosis, is characterized by inflammatory lesions, especially on sun-exposed skin.	has_symptom
+63c082ee0e1977948cb4505a95518fa43e03541c	@DISEASE$ is a condition involving abnormal @PHENOTYPICFEATURE$ to UV and, often, visible wavelengths.	has_symptom
+9c9781dc881620da9790fb0edf1dde2520260c85	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, @PHENOTYPICFEATURE$ and hypoalbuminemia.	has_symptom
+7a1f2137e21b0b37c71615266e02ee6ee40be9ee	We describe a case of hypertrophic gastropathy with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bc1e6048ad7731dc9cce3faafa2aa90e0b74566c	We describe a case of hypertrophic gastropathy with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @PHENOTYPICFEATURE$, @DISEASE$ and hypoalbuminemia.	false
+4d785ec03b45e0e2aad880c2ddc569c52acc25c4	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, abdominal pain and @PHENOTYPICFEATURE$.	false
+fe8d3757f1a25d7ba38d171215d174bece299289	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @PHENOTYPICFEATURE$, abdominal pain and hypoalbuminemia.	false
+5b01fb1c57fce0f56752fb314536e6ee6e315664	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, weight loss, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, @PHENOTYPICFEATURE$, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or @DISEASE$ associated with nodose polyarteritis.	has_symptom
+504d46f026c3091d4e82da7a056b58d22dfb7f3a	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, abdominal pain, anemia, @DISEASE$, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+8d6db74642b23be87c34cdbcb277e4f5c7065378	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile syndrome, myalgias, peripheral @DISEASE$, abdominal pain, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+d2e43da361bd1d5d2f017c546c1df306eb2c24c6	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, abdominal pain, @DISEASE$, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+a455963e909e3a185639f0fdbbb6bef6814fcfb1	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile @DISEASE$, myalgias, peripheral polyneuropathy, abdominal pain, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+077839838a35c32b2d3225440475b93c64405105	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, abdominal pain, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or @DISEASE$ associated with nodose polyarteritis.	false
+e976eeefdb48d34b9bd984314280a825a9f89fc7	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, @DISEASE$, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+4a6307d3bfeb88fc015f28df3f0ef635d14fd422	Sibs with @PHENOTYPICFEATURE$, supraorbital sclerosis, and metaphyseal dysplasia: @DISEASE$, craniometaphyseal dysplasia, or a new syndrome?	has_symptom
+757ed0f84db0de3ac7501e2dcfefe9577be98e94	Sibs with mental retardation, supraorbital sclerosis, and @PHENOTYPICFEATURE$: frontometaphyseal dysplasia, @DISEASE$, or a new syndrome?	false
+99973137ed8c25f16cd2efa6c944e04a92c85a33	Sibs with mental retardation, supraorbital sclerosis, and @PHENOTYPICFEATURE$: @DISEASE$, craniometaphyseal dysplasia, or a new syndrome?	false
+25a377fb8912dec8b16ae0e769b4e49f62c61057	Sibs with @DISEASE$, supraorbital sclerosis, and @PHENOTYPICFEATURE$: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?	false
+86f2005708c5c7c8f3a333333752f436aedb8cf3	@DISEASE$ is the most common cause of @PHENOTYPICFEATURE$ ataxia worldwide.	has_symptom
+5b7ccd6c1695dd9a2ba8f273f368538c4271de6b	Spinocerebellar ataxia type 3 is the most common cause of @DISEASE$ @PHENOTYPICFEATURE$ worldwide.	false
+f1ea962d15201d6ba1bc5db1bdc144e06a6f6f87	@DISEASE$ is the most common cause of autosomal dominant inherited @PHENOTYPICFEATURE$ worldwide.	false
+1df902fee54308b8077866fe270f05abf5b5da11	Additional concomitant phenomena of the @DISEASE$ are dystrophic nails, @PHENOTYPICFEATURE$, scarring alopecia, and vascularizing keratitis.	has_symptom
+dc1a5456f2d3a70840b1ba47efe20707c394078a	Xanthoma tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease @PHENOTYPICFEATURE$ in @DISEASE$, plane xanthoma in persons with an underlying lymphoproliferative disorder (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia.	has_symptom
+e0cbfacaca8c58d7c1477d5f829473218a378d85	@PHENOTYPICFEATURE$ tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease xanthoma in @DISEASE$, plane xanthoma in persons with an underlying lymphoproliferative disorder (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia.	has_symptom
+53288fdf361dcadb3961be0f164fa03f6d80a083	Histological, histochemical and electron-microscopical examinations have been performed on @PHENOTYPICFEATURE$ of the skin and palmar creases in 5 patients with @DISEASE$, to follow the dynamics of xanthoma formation.	has_symptom
+593034041515a51db5268fb032424e264f02395b	Apolipoprotein E deficiency leads to @DISEASE$ characterized by increases in serum lipid levels, atherosclerosis, and cutaneous @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c44975b61fdecd9117292f568ed51a466256aca1	Neuropsychiatric features of C9orf72-associated behavioral variant @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+340a88047b25356fc700d392384dc4e250cd26e4	@DISEASE$ (22q11DS) is a chromosomal disorder that results in variable multisystem abnormalities, including conotruncal cardiac malformations, aplasia or hypoplasia of the thymus and/or parathyroid glands, immunodeficiency, dysmorphic facial features, and cleft palate and other nasopharyngeal and @PHENOTYPICFEATURE$.	has_symptom
+e7b3e3824d240bbc12fc3e6d4128a6dd447dd117	22q11 deletion syndrome (22q11DS) is a chromosomal disorder that results in variable multisystem abnormalities, including conotruncal cardiac malformations, aplasia or hypoplasia of the thymus and/or parathyroid glands, immunodeficiency, dysmorphic @DISEASE$ features, and @PHENOTYPICFEATURE$ and other nasopharyngeal and dental anomalies.	false
+25ac8d69163dbae0f2d436dd8e0a71afd83aece0	@DISEASE$ (22q11DS) is a chromosomal disorder that results in variable multisystem abnormalities, including conotruncal cardiac malformations, aplasia or hypoplasia of the thymus and/or parathyroid glands, immunodeficiency, dysmorphic facial features, and @PHENOTYPICFEATURE$ and other nasopharyngeal and dental anomalies.	false
+c782d6bad08d44784c507c263b52fc210024a9b8	22q11 deletion syndrome (22q11DS) is a chromosomal disorder that results in variable multisystem abnormalities, including conotruncal cardiac malformations, aplasia or hypoplasia of the thymus and/or parathyroid glands, immunodeficiency, dysmorphic facial features, and @PHENOTYPICFEATURE$ and other nasopharyngeal and @DISEASE$.	false
+f2626bd4388137e95fcf8a74f41a163f468c1797	22q11 deletion syndrome (22q11DS) is a chromosomal disorder that results in variable multisystem abnormalities, including conotruncal cardiac malformations, aplasia or hypoplasia of the thymus and/or parathyroid glands, @DISEASE$, dysmorphic facial features, and @PHENOTYPICFEATURE$ and other nasopharyngeal and dental anomalies.	false
+6ea223ecf29c9e1ea399cd299749a3af21c4824c	Characteristics such as middle age and male sex, seropositivity for hepatitis B and/or hepatitis C, chronic liver disease, unexplained anemia, marked @PHENOTYPICFEATURE$, and a severely inversed albumin/globulin ratio raise suspicions about the underlying @DISEASE$.	has_symptom
+26358db47060725b30fd24581b9290befd43bed6	Symptoms associated with @DISEASE$ include fatigue, @PHENOTYPICFEATURE$, abdominal pain, pruritus and jaundice, which may also be caused by the underlying liver disease.	has_symptom
+31c0677f8082ac91e115453e7fef50259932421a	Symptoms associated with HCC include fatigue, weight loss, @PHENOTYPICFEATURE$, pruritus and jaundice, which may also be caused by the underlying @DISEASE$.	false
+699bae384c81543379ff0a8b5cfc8536f4d8a7c7	Symptoms associated with @DISEASE$ include fatigue, weight loss, @PHENOTYPICFEATURE$, pruritus and jaundice, which may also be caused by the underlying liver disease.	false
+baa72208ec54b83618bf7c4b82863f179a1c6dc1	Symptoms associated with HCC include fatigue, @DISEASE$, @PHENOTYPICFEATURE$, pruritus and jaundice, which may also be caused by the underlying liver disease.	false
+b93dedb52a00d3134dc08580a2e9abd30ee75398	In 14 newborns, 20 infants and 35 older children TIBC and transferrin values correlated significantly (p < 0.001), as well as in various disorders (infections, hyporegenerative @PHENOTYPICFEATURE$, @DISEASE$, acute blood loss) and in prelatent, latent and manifest iron deficiency.	has_symptom
+75848101280613d9d87a7eb99de9e8715b66132c	Ineffective erythropoiesis plays a much more prominent role in @DISEASE$/hemoglobin E (beta-thal/HbE) disease, in which the variability of the @PHENOTYPICFEATURE$ is puzzling.	has_symptom
+a1305092f259692f0ae9041d3dfca54a883205e2	In nontransfused @DISEASE$ patients, erythropoiesis,@PHENOTYPICFEATURE$ and hypoxia down-regulate hepcidin, the master regulator of iron homeostasis.	has_symptom
+4216392b6142dfb8bbb8a0e188c64b876831d79e	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, @PHENOTYPICFEATURE$, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, @DISEASE$, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	has_symptom
+54c38da346c9abccb18a0c1af645cea7981d9f70	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, @DISEASE$, recessive myotonia and @PHENOTYPICFEATURE$- teleangiectasia (increased cancer risk).	false
+2964dfd9a6c414f362a20fb77f9d537982ab2dec	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, @PHENOTYPICFEATURE$ epilepsy, Wilson's disease, galaktokinase deficiency, @DISEASE$, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	false
+c1603ed98e8120f9a9af9cf702b34cd9a0345017	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, @PHENOTYPICFEATURE$ epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased @DISEASE$ risk).	false
+1ecd4e114b7b3b2dc12230b14fb6643d91c0bb0c	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	false
+19a13aa41c9ff49d983d886228aa3ab7301286be	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	false
+3dcd898e0dbc6806e041096890525f76fc08b2b9	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others @DISEASE$, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and @PHENOTYPICFEATURE$- teleangiectasia (increased cancer risk).	false
+aa70352878715823838b9fdf07b4564dc578d1c3	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, @DISEASE$, galaktokinase deficiency, homocystinuria, recessive myotonia and @PHENOTYPICFEATURE$- teleangiectasia (increased cancer risk).	false
+cf99324341f3d71298ef34f304fea05dc6820cd8	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, @DISEASE$, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and @PHENOTYPICFEATURE$- teleangiectasia (increased cancer risk).	false
+a543a114a037a32a374363763a402c16a7a74d61	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others @DISEASE$, microcephaly, @PHENOTYPICFEATURE$ epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	false
+58dca4c4c7c3a158122a611c0f3b45b2b3946573	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, homocystinuria, recessive myotonia and @PHENOTYPICFEATURE$- teleangiectasia (increased @DISEASE$ risk).	false
+b8484d51fac9d5e12817d103243a97e6dce20d05	Thus, all neonates with @PHENOTYPICFEATURE$ should have fully and detailed systemic examinations checking all minor criteria and even occasional findings of @DISEASE$.	has_symptom
+72e829b4f95281eb8fb3bcdd00c6c22f51fc481c	Point mutations in the CHD7 gene are causal in @DISEASE$ (a developmental disorder causing @PHENOTYPICFEATURE$, heart defects, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	has_symptom
+1a434c0b82adaed13fd54538bb89bc4ffcd65d7b	Point mutations in the CHD7 gene are causal in CHARGE syndrome (a developmental @DISEASE$ causing coloboma, heart defects, atresia choanae, retardation of growth, and genital and @PHENOTYPICFEATURE$) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+24ad30d39caca71de5dffe87a0f0e02be1c3e383	Point mutations in the CHD7 gene are causal in @DISEASE$ (a developmental disorder causing coloboma, @PHENOTYPICFEATURE$, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+a1fed25e663ac3e538722c92229a7874270ff16b	Point mutations in the CHD7 gene are causal in CHARGE syndrome (a developmental @DISEASE$ causing coloboma, @PHENOTYPICFEATURE$, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+267349dca9925e467034f4e02aaf151506ab7094	Point mutations in the CHD7 gene are causal in CHARGE syndrome (a developmental disorder causing @DISEASE$, heart defects, atresia choanae, retardation of growth, and genital and @PHENOTYPICFEATURE$) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+9311ec0c3d656e9a773a506a38521654f35e9316	Point mutations in the CHD7 gene are causal in CHARGE syndrome (a developmental disorder causing @DISEASE$, @PHENOTYPICFEATURE$, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+3f62e7ab71ad20677c22f46f3de863066885a234	Point mutations in the CHD7 gene are causal in @DISEASE$ (a developmental disorder causing coloboma, heart defects, atresia choanae, retardation of growth, and genital and @PHENOTYPICFEATURE$) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+536e9c1722ffa720fa3eb6e0d714329a98c737cd	@DISEASE$ (BCS) is also rare and presents with ascites, @PHENOTYPICFEATURE$, hepatomegaly, leg swelling, and jaundice.	has_symptom
+ccffc006d1e9882ad487c2aa76c65df43dabdfa2	During an exacerbation of Crohn's disease she developed hepatic vein thrombosis with a @DISEASE$ (upper @PHENOTYPICFEATURE$, hepatomegaly and ascites).	has_symptom
+a8ea7af2fa769a05baa9ef637e9afd6a1fa7df4c	@DISEASE$ (BCS) is a rare disease resulting from obstruction of the hepatic venous outflow tract that typically presents with @PHENOTYPICFEATURE$, jaundice, and ascites without frank liver failure.	has_symptom
+7754a0a44633ae44312a600c382557b556d105bd	After six uneventful years, abdominal sonography and magnetic resonance examination, performed because of @PHENOTYPICFEATURE$, showed liver cirrhosis with @DISEASE$.	has_symptom
+cf9ed4b877fc1b924d9e2b48e3843d0babfda0e3	Patients with hepatic vein thrombosis (@DISEASE$) can present with @PHENOTYPICFEATURE$, hepatomegaly, jaundice, and ascites.	has_symptom
+e0bb87f60ba9215cc1c6d05af5c60cc168264055	Upper segment tumours can cause @DISEASE$ (hepatomegaly, @PHENOTYPICFEATURE$, jaundice and ascites) with a bad prognosis.	has_symptom
+2a9494aa91edc83cb23074ea8b8fd3954ff4d5d8	Upper @DISEASE$ @PHENOTYPICFEATURE$ can cause Budd-Chiari syndrome (hepatomegaly, abdominal pain, jaundice and ascites) with a bad prognosis.	false
+1f3cf9a6567f3f8538923fe6425bd75b0073d26a	Upper segment @PHENOTYPICFEATURE$ can cause Budd-Chiari syndrome (hepatomegaly, @DISEASE$, jaundice and ascites) with a bad prognosis.	false
+2220ea32ece9979dca1e2e4fea2605ceb13ebcd5	Upper segment @PHENOTYPICFEATURE$ can cause @DISEASE$ (hepatomegaly, abdominal pain, jaundice and ascites) with a bad prognosis.	false
+64cbe1717192bd62494cc9bf39d9586982b78ba1	@DISEASE$ segment @PHENOTYPICFEATURE$ can cause Budd-Chiari syndrome (hepatomegaly, abdominal pain, jaundice and ascites) with a bad prognosis.	false
+e145b688cbc59f532938b1e670b58b6bc64380d7	@DISEASE$ is a clinical disorder caused by hepatic venous obstruction with manifestations of @PHENOTYPICFEATURE$, hepatomegaly, and ascites.	has_symptom
+ba14b9f8f8da7ccb200518395e134cea50238937	@DISEASE$ is a hepatic venous outflow tract obstruction and may be present @PHENOTYPICFEATURE$, hepatomegaly and ascites.	has_symptom
+10c3a005deea455b9a74b1578a8f387ae0b2c1f9	We describe a case of @DISEASE$ visualized via F-FDG PET/CT in a 60-year-old woman with medical history of B-cell non-Hodgkin lymphoma who presented with @PHENOTYPICFEATURE$.	has_symptom
+2c8af5ac21925bac05c81e2ba36ac3ce4fa22a7f	@DISEASE$ is a rather unusual clinical situation caused by occlusion of the hepatic vein of inferior vena cava, the classical triad of which are @PHENOTYPICFEATURE$, ascites and hepatomegaly.	has_symptom
+601a55d2e16cf162e77fee69955d10709bb7f748	[Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of childhood disintegrative disorder, @DISEASE$ and late onset @PHENOTYPICFEATURE$].	has_symptom
+53a545f825427a3edbe5aa603aa08044be752e96	Classic @DISEASE$ (cEDS) is characterized by fragile, @PHENOTYPICFEATURE$ and hypermobile joints.	has_symptom
+53f0c7040180b14d8322383e55e59dc5bfcab454	Mutations in RBM10 are associated with @DISEASE$, an X-linked recessive disorder originally described with cardinal features of @PHENOTYPICFEATURE$, atrial septal defect, Robin sequence, and persistent left superior vena cava.	has_symptom
+60968f299961a2f15f776bf862861ad87dea49f1	@DISEASE$ (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental delay, feeding difficulties and @PHENOTYPICFEATURE$, as major features.	has_symptom
+cee3b69bbd3e37c658aa79506fa63fad009d4033	@DISEASE$ (TARPS) is an X-linked syndromic condition including Robin sequence, @PHENOTYPICFEATURE$, developmental delay, feeding difficulties and talipes equinovarus, as major features.	false
+8eb6a294fb55b0107a91d1038ce09d37e7b9d08a	TARP syndrome (TARPS) is an X-linked @DISEASE$ condition including Robin sequence, @PHENOTYPICFEATURE$, developmental delay, feeding difficulties and talipes equinovarus, as major features.	false
+8d2562b7482fe20485f9c764a576e4c346327425	TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, @PHENOTYPICFEATURE$, developmental delay, feeding difficulties and @DISEASE$, as major features.	false
+1d5f6cd33d0c7547ac0c43d5781c956da1ec7789	The @DISEASE$ (@PHENOTYPICFEATURE$, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report.	has_symptom
+3b3f96e04cc9f18901dd58bab7b58ecf76d46dcf	@DISEASE$ (@PHENOTYPICFEATURE$, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X-linked syndrome often resulting in pre- or post-natal lethality in affected males.	has_symptom
+cd785e0d895ad76d7ed5719adf509793709350b8	@DISEASE$, comprising @PHENOTYPICFEATURE$, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	has_symptom
+edb20088fea7e44d117c1401a427aa8551f80eb9	@DISEASE$, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+08922978eb6de0d1cb331c8d3d0652cca7b18b5a	TARP syndrome, comprising @DISEASE$, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+5bf83c3a81ac9979c003c14b65ae6685cf1b8a0d	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (@DISEASE$), Robin sequence (micrognathia, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+cd96d1adae6d1313e16835b8bdf5654749cdb508	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (@DISEASE$), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+cb56ff90f8e19e1620a2792cdcab6469ef986472	TARP syndrome, comprising @DISEASE$, atrial septal defect (ASD), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+9a6435e8af5b94fd612a62bba6fad9410a5ad2ee	@DISEASE$, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+258a1e3ecbf4c3bef0ee930840059c643e66963c	@DISEASE$ (@PHENOTYPICFEATURE$, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X-linked condition.	has_symptom
+183c2478e92d5538f8107c064a575a5315565c13	It is a component of the @DISEASE$, @PHENOTYPICFEATURE$, atrial septal defect, Robin sequence, and persistent left superior vena cava.	has_symptom
+dbbd762e411b962ef7bb3fb595f595308dd7bf6d	However, she also had @PHENOTYPICFEATURE$; confirmed by slit-lamp examination, which led to the diagnosis of @DISEASE$.	has_symptom
+540a4df2bc9fe6da4d06372aa76bb0e55dcaf648	@DISEASE$ is a genetically transmitted disorder of connective tissue characterized by hyperelasticity of the skin, hyperflexibility and looseness of the joints, @PHENOTYPICFEATURE$ of the skin, and in the more severe forms of the disease, arterial fragility and tendency to rupture.	has_symptom
+5d11bc8bec4b60f86f2c4bdc5877c3af142dfcbf	The likelihood of treatment failure was increased by four times by younger age at seizure onset; by six times in the individuals with @PHENOTYPICFEATURE$; and by 22 times in the patients with @DISEASE$.	has_symptom
+9929760c019f19b1806848598dd5205ec6c3209c	The likelihood of treatment failure was increased by four times by younger age at @PHENOTYPICFEATURE$ onset; by six times in the individuals with neurological abnormalities; and by 22 times in the patients with @DISEASE$.	false
+243044b3ecd8ecf910e3eb6541c3681572fb9310	The likelihood of treatment failure was increased by four times by younger age at @PHENOTYPICFEATURE$ onset; by six times in the individuals with @DISEASE$; and by 22 times in the patients with West syndrome.	false
+51596615605c13e23a49be60461d6c9cf2fc021f	Objective measures of @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+bbfa5bc34a3b598d07667001dd34911eda92f20f	In this report, we describe a patient with a phenotype compatible with @DISEASE$ (aberrant anterior hair line, @PHENOTYPICFEATURE$, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305	has_symptom
+d1c4cb9d07341de16cb3c4f7379e4d0de44d40d2	In this report, we describe a patient with a phenotype compatible with @DISEASE$ (aberrant anterior hair line, hypertelorism, unilateral @PHENOTYPICFEATURE$, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305	false
+5c48daa52052b54955d203b8b338c1627f546300	In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, @DISEASE$, unilateral @PHENOTYPICFEATURE$, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305	false
+7a4113e337f891197d4dd8caf91ea8ea4137e699	We report on a new male patient, 3.5 months old, with @DISEASE$, who presented with the following features: bilateral incomplete cryptophthalmos with a completely fused, ill-defined upper eyelid and a keratinized cornea, @PHENOTYPICFEATURE$, a broad tip of the nose, a circle-shaped whirl of hair on the forehead, and a low anorectal malformation, which could be corrected on day 2 of life without a colostomy.	has_symptom
+07fca4b0011d8223fc9d56018f8138a0377cd282	@PHENOTYPICFEATURE$ and endobronchial disease in @DISEASE$.	has_symptom
+5773f4ce714c8839c0cfd21186a506b9e9619097	Multifocal conduction blocks in @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+5de0729d2dfe0ce2db7dde7d4f4306876103bc45	We studied 10 patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+5f6d1538dddfb9f5683c2e5bab4490171a288a7e	Hereditary diseases such as aceruloplasminemia, Friedreich's @PHENOTYPICFEATURE$, pantothenate kinase-associated neurodegeneration, and @DISEASE$ with retinitis pigmentosa involve retinal degeneration associated with iron dysregulation.	has_symptom
+14610ef0e34dee69f37136e3a12b67b6d5524058	@DISEASE$ masquerading as acute myocardial infarction in a patient presenting with @PHENOTYPICFEATURE$.	has_symptom
+de2d187500f0cfd9ed6cce1828f9421141e04b15	Atrial fibrillation and recurrent @PHENOTYPICFEATURE$ during hypokalemia in @DISEASE$.	has_symptom
+08bfb6a05a96acb81449aa9585a22d8bf8818f75	@DISEASE$ and recurrent ventricular fibrillation during @PHENOTYPICFEATURE$ in Brugada syndrome.	false
+bc45dc6875f9cce0bfb29d1ca72d8f56a899105a	Atrial fibrillation and recurrent ventricular fibrillation during @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cf3266741b38702271c353ecbdde9dc863800c2d	Atrial fibrillation and recurrent @DISEASE$ during @PHENOTYPICFEATURE$ in Brugada syndrome.	false
+7109f992d77297ade1ea4228226b10194936adbc	Paced QRS fragmentation is associated with spontaneous @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+03d2ab9a91eff40967abbb3babb7c8a3b3be873e	[@DISEASE$ associated with @PHENOTYPICFEATURE$ induced by administration of pilsicainide: a case report].	has_symptom
+91f5f33b39783aa3994039ff61870da500fb53b6	SCN5A mutation is associated with early and frequent recurrence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+b86320e4112931039fcdadd9d1edc55fb975f4b6	Paradoxical nocturnal elevation of sympathetic tone and spontaneous @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+21ae1c46f6cbca771a6643629a827fb5152807d8	Pilsicanide-induced marked T wave alternans and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+99f29fa088bc95e1ebd6179f97e153b2f2c41dbe	A case of @DISEASE$ presenting with @PHENOTYPICFEATURE$ storm and prominent early repolarization.	has_symptom
+e14ee4bc3e510db609b4100bfc665b2dff71adde	Shock efficacy of the entirely subcutaneous defibrillator for termination of spontaneous @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+ffebb965a7914f84159fd7e09b947a1626c53ee0	Repeated syncope, @PHENOTYPICFEATURE$, and sudden cardiac death have been reported in patients with @DISEASE$.	has_symptom
+19756fe7058ec8f109d712ce4ef9e2914d5b40e9	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of a short and asymmetric thorax with rib and vertebral anomalies and scoliosis (spondylocostal-like pattern), @PHENOTYPICFEATURE$, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.	has_symptom
+21a344e13cceaccec7e9ef87df7dea63cdbb8adf	Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and @PHENOTYPICFEATURE$ and scoliosis (spondylocostal-like pattern), @DISEASE$, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.	false
+4fce9ff2aab347477609797d0a69409f12d045ba	Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and @PHENOTYPICFEATURE$ and @DISEASE$ (spondylocostal-like pattern), anal atresia, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.	false
+f09c9212027b5a8ef9fbd75db9f38ca6788923c4	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of a short and asymmetric thorax with rib and @PHENOTYPICFEATURE$ and scoliosis (spondylocostal-like pattern), anal atresia, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.	false
+79174de3cc0bf5d5818deea841cc2bfffbdc26dc	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	has_symptom
+81f51c614ea3e659838caa37b5a926a813ff27b7	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+b495dc4fab02abf5e473b57741237c21c0f48471	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+a5bf42372ce85c1336377165fab0f4894cf800fb	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+04e827c9a99397ddce8878af0aece507b3563498	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, @DISEASE$ and cleft palate.	false
+3f5e2911161b5d5f26db04b841751476ff50304c	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9b64ee9849963b3805233edc68703839e1c7dbf6	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+2468c42cb21c9ada4da1e6affcd3a6162037e293	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+e05b1f05de9c22636c6f7065ac491232e0701ad1	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+5658bd84d3c5fa4aeb3ede328deab35bec12915e	@DISEASE$ in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and @PHENOTYPICFEATURE$.	has_symptom
+0c640b98e1b75107cbc058f69c88e816e803724c	Very long eyelashes, long eyebrows, sparse hair, and @PHENOTYPICFEATURE$ in two unrelated boys: An atypical form of @DISEASE$ without retinal degeneration, or a new clinical entity?	has_symptom
+8f3f1e1f6a0a88783faf172805e14ca1e801387d	@DISEASE$ (CGD) is a primary immunodeficiency disease characterized by severe recurrent infections such as pneumonia, liver and @PHENOTYPICFEATURE$.	has_symptom
+fab8423280292fe37b8e8994c6a2e7e8dfb879bd	Chronic granulomatous disease (@DISEASE$) is a primary immunodeficiency disease characterized by severe recurrent infections such as pneumonia, liver and @PHENOTYPICFEATURE$.	has_symptom
+3c4c9150885d5eb423158d295dc0c837382bb503	@PHENOTYPICFEATURE$ and lymph node abscesses are the most common manifestations of chronic granulomatous disease (@DISEASE$) during the first year of life.	has_symptom
+e6a1b5e7d003a9f0050a6c01d9b794e37be847e3	@PHENOTYPICFEATURE$ and lymph node abscesses are the most common manifestations of @DISEASE$ (CGD) during the first year of life.	has_symptom
+8a8ba5adb95b53489466a140523d6bd68d1910a1	@DISEASE$ (MWS) is an inherited autoinflammatory disease characterized by @PHENOTYPICFEATURE$, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis.	has_symptom
+1b67305c7b73099c554d72d4694e80f8ed18b412	Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, @PHENOTYPICFEATURE$ and potentially life-threatening @DISEASE$.	false
+a337f72bae491d8b795410e9ee442a190e3eedfc	@DISEASE$ (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, @PHENOTYPICFEATURE$ and potentially life-threatening amyloidosis.	false
+724d78184489475cb935e873f6034520c4213fc5	Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by @DISEASE$, rash, arthralgia, conjunctivitis, @PHENOTYPICFEATURE$ and potentially life-threatening amyloidosis.	false
+5c26bc11e416ef604fdfaf63aa09e493db3d9e32	@DISEASE$ (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, @PHENOTYPICFEATURE$, arthralgia, sensorineural deafness, and the possible development of systemic AA amyloidosis.	has_symptom
+f225711596201e1f1dc7c892bfc589cb85027a0c	Muckle-Wells syndrome (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, @DISEASE$, arthralgia, @PHENOTYPICFEATURE$, and the possible development of systemic AA amyloidosis.	false
+678ec4d6f20a1b58c46dd5cb40e958d2306ddef9	Muckle-Wells syndrome (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, @PHENOTYPICFEATURE$, and the possible development of systemic @DISEASE$.	false
+bc5d3f4afa0568928297dc9dd20487285aa491ac	@DISEASE$ (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, @PHENOTYPICFEATURE$, and the possible development of systemic AA amyloidosis.	false
+dbd52a59f2d4c11d62781c22ac4c81e9749d5f2e	@DISEASE$ is characterized by recurrent episodes of urticaria, @PHENOTYPICFEATURE$, polyarthralgia, deafness and secondary amyloid (AA type), familial type with autosome dominant features; few cases have been described.	has_symptom
+c98155206878dc9f4baf649c046269de05a67c14	@DISEASE$ is characterized by recurrent episodes of urticaria, fever, polyarthralgia, @PHENOTYPICFEATURE$ and secondary amyloid (AA type), familial type with autosome dominant features; few cases have been described.	false
+c6d87193acd147c038d1d622d38266c213b28632	Muckle-Wells syndrome is characterized by recurrent episodes of urticaria, @DISEASE$, polyarthralgia, @PHENOTYPICFEATURE$ and secondary amyloid (AA type), familial type with autosome dominant features; few cases have been described.	false
+f93b57ca58d0ac0fd7c6d5c02441b1dcb9dee6fc	This patient is likely to represent a variant of the @DISEASE$ (chronic relapsing urticaria, @PHENOTYPICFEATURE$, arthralgia, deafness and renal amyloidosis).	has_symptom
+eb1dde924d8bb234adc719b53a2f541ea23e6d38	This patient is likely to represent a variant of the Muckle-Wells syndrome (chronic relapsing urticaria, @DISEASE$, arthralgia, @PHENOTYPICFEATURE$ and renal amyloidosis).	false
+8116c0cc3f2e8c11407be30d0bd4ffce319afcf0	This patient is likely to represent a variant of the @DISEASE$ (chronic relapsing urticaria, fever, arthralgia, @PHENOTYPICFEATURE$ and renal amyloidosis).	false
+e106bd02d20735c8bf9ef002970cd8c01da9cc36	This patient is likely to represent a variant of the Muckle-Wells syndrome (chronic relapsing urticaria, fever, arthralgia, @PHENOTYPICFEATURE$ and renal @DISEASE$).	false
+7a6369227c84e84f56fe2ce90c68a5a980943b83	These syndromes, familial cold autoinflammatory syndrome, @DISEASE$ and neonatal-onset multisystem inflammatory disease, are characterized by urticaria-like rash, @PHENOTYPICFEATURE$, central nervous system inflammation, an arthropathy and a risk of the development of amyloidosis in a respectively escalating degree of severity between the various syndromes.	has_symptom
+cf10f5723bfe52329893fe21a6578050d4a84b5f	Classically, four such diseases were recognized, namely familial Mediterranean fever (previously called periodic disease in France), the @DISEASE$, Hibernian @PHENOTYPICFEATURE$, and hyper IgD with recurrent fever.	has_symptom
+6672f489fe5f4241dd0b681a05e9995f231e5f63	Familial cold urticaria (FCU) and @DISEASE$ (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, @PHENOTYPICFEATURE$, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44.	has_symptom
+7b937712fcd6dca56684cb4958d788943cd586e0	Renal acidification was studied in eight patients with @DISEASE$ or bilateral adrenalectomy receiving glucocorticoid replacement only and without renal insufficiency (group I); in five patients with hyporeninemic @PHENOTYPICFEATURE$ and moderate chronic renal insufficiency (group II), and in nine control subjects (group III).	has_symptom
+f504893218eba22eb80c8d0e4c682e1e135702cf	Pseudohyperkalemia, @DISEASE$, renal insufficiency, classical hyporeninemic hypoaldosteronism, isolated @PHENOTYPICFEATURE$, and iatrogenic causes were excluded.	has_symptom
+6ca18f348ce06c52b31ef3a668bf4ffd807eb121	Pseudohyperkalemia, @DISEASE$, renal insufficiency, classical hyporeninemic @PHENOTYPICFEATURE$, isolated hypoaldosteronism, and iatrogenic causes were excluded.	has_symptom
+0e245613c97c7b7a8062d1505ec241e13f129234	Pseudohyperkalemia, Addison's disease, @PHENOTYPICFEATURE$, classical hyporeninemic hypoaldosteronism, isolated @DISEASE$, and iatrogenic causes were excluded.	false
+99940480a53167cbb8f192cfd843b5471ea8c8a7	Pseudohyperkalemia, @DISEASE$, @PHENOTYPICFEATURE$, classical hyporeninemic hypoaldosteronism, isolated hypoaldosteronism, and iatrogenic causes were excluded.	false
+db1df67a8d876135235b79fa0eeb967675d27414	Pseudohyperkalemia, Addison's disease, @PHENOTYPICFEATURE$, classical hyporeninemic @DISEASE$, isolated hypoaldosteronism, and iatrogenic causes were excluded.	false
+30f1b36cf1ee4b53aadbeb5a406c996d7e3f1dce	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	has_symptom
+815621e6d31da8f2f0639e0b56342143afa5362a	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with @DISEASE$) syndrome.	false
+91b16a4277b1a936fe107a0666b8b911a2efeacc	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) @DISEASE$.	false
+4490bc475fd2ceeaa52dac285419974271b1711c	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+332a77d43e03a473acdf9b81583c60f74f22c531	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+b41a6ce66fd426df0605699f1289bf122a3a0b3d	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (@DISEASE$ hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+8b145f8c42df128b5a31c16067c61361e4c5a394	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) @DISEASE$.	false
+590729d90ed88325f257aa9efee8dd20981d1194	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, @DISEASE$, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+3ed39aadafb72c12e1d1a5cf2b197d7f3b242a89	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented @DISEASE$ with insulin-dependent diabetes mellitus) syndrome.	false
+26cf1a9bfb80c4eb647d7419d974ca9b750f2384	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented @DISEASE$ with insulin-dependent diabetes mellitus) syndrome.	false
+3c4c2ed5a27ab65620a99215e147e146b0d7c572	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with @DISEASE$) syndrome.	false
+55fa81cad8cbeea0d30428deb901a7326b44b574	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @DISEASE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+7e36009efced7dda5a6a5053ec1856703a29515f	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, @DISEASE$, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+976bc3a7fbb9097a90aab9bdf11f4eaecff35b8a	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @DISEASE$ and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+b4db245169b4abd48168c8db9c0343059df5f933	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (@DISEASE$ hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+b277a856d5528482050ae521b0165926b0c22fce	@DISEASE$ (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by @PHENOTYPICFEATURE$ and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	has_symptom
+0fa074a5017633ef3cec81de003f1603bd2a82ea	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/@PHENOTYPICFEATURE$.	false
+b9b4e7069ec3f5c8ee7adbf6fbdf20969f89e4a6	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/@DISEASE$, and hallux valgus/flexion contractures.	false
+87235526830869660d244b9e867bb058dc8f9e48	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/@DISEASE$, and hallux valgus/flexion contractures.	false
+94408ffaaf4714f004bf9c5eb478f1d86333af57	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by @DISEASE$ and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/@PHENOTYPICFEATURE$.	false
+5ef6c70fb73d52cfe7f68ab4a1eb9eccf24e37a5	@DISEASE$ (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/@PHENOTYPICFEATURE$.	false
+74abb9e98d7ca9af75850285f4e76489309c9068	H syndrome (histiocytosis lymph adenopathy plus @DISEASE$) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+7a7ca006e5c105c17ede9bea7a20b5034d23a916	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+d95c1e908d8485f5786045164c97ffe8775ebd11	H syndrome (histiocytosis lymph adenopathy plus @DISEASE$) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+4167281764ab49a29c2167120e965d6693e28843	H syndrome (@DISEASE$ lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+c04426911d8142d4e85bf7053e7de0fb6611d94b	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+c01fa164ee9215d076f726f0cd7d828218185af6	H syndrome (histiocytosis lymph adenopathy plus @DISEASE$) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/@PHENOTYPICFEATURE$.	false
+bc2359273fcac5c9ffc6f869bf0dd193d10f8637	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by @DISEASE$ and @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+2ad3b16598353cfbc4d47f952ac0db7d51823370	@DISEASE$ (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+6a6d24853149b601c7c0bd99d985ddc0c09639e5	H syndrome (@DISEASE$ lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+b8dcd7d6293c62cbb2013ec8e53b4d2f1a9edd58	@DISEASE$ (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+7e1fdec9f4e10a39297e7a80a5a894e64cbf1c4b	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by @DISEASE$ and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+ee04a5300d763fa44deacd2f98df768f3bd118e8	H syndrome (@DISEASE$ lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/@PHENOTYPICFEATURE$.	false
+6e1231f5aa6b649dd6392e7bedcd3d0ceadc4f02	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/@DISEASE$, and hallux valgus/@PHENOTYPICFEATURE$.	false
+afa9dc16dd922a80ebf956ea9b3ab665e1b14f63	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	has_symptom
+50654c3550bb725371227a26c0938ac7fc864d36	The H syndrome is a recently reported autosomal-recessive disorder characterized by @DISEASE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+8c0d1fff56e39e8a048d9341d5e9cd6b375c7337	The H syndrome is a recently reported autosomal-recessive disorder characterized by @DISEASE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+a55c48f75114b82fa9e3510a8927ef53b3275506	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+e42b37997421150f38026d20c94e11cc7fdc8dee	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+640518f044e39af501ed73a0aa50240cd6349498	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+d4d737ed5564a3e284aabb55f78f9752841695ee	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+a7007bc5185ed95324a564d6dc7eb64b4c9fba7c	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+d1c732f95273c061ff772419f5929c06f26eda17	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+9e26c2e2ccfb7a79c0be826fb48f110de85b447a	The H syndrome is a recently reported autosomal-recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+7c27dafab774a8eed74b0e4ac50b628b00e9a0fd	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+9b54540d566cffce0f3ea8faa4087dc7d33d071a	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+8dc7d314dd2741902fb8e3ad3b08161e6431e618	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+55eb45e9d1c8d9c267ec463186c2d24828fbd94d	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	has_symptom
+a1d3e6d4b8aff52f727c6a06fffda2df811da856	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+c8c8bf185d6f0f8674a34e5bb92ce7a3de58da0a	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+33929411bc977ef8f4a26f108d7380b62e9f029a	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+4f6026499521f3608ffc293741844eac4978d935	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @DISEASE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+db1b992dc5d3a8df395a87c34b66a245c166b517	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+1fa83ce974dac5d1d1b3b94eaf7c1fe22befdc26	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+8ade5effade87321f7438de021a846b2769d60fe	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/@DISEASE$, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+b0aa81f1dc7f9d547481538c797d07ebcfe14012	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/@DISEASE$, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+39085350ac537b4a3471d35b71b18761812240ea	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+93eb5d148be61c6b86f5a99db14c945dd0ab5e56	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+05438af4d6165055b0ce678294ac03c21602acc7	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	has_symptom
+d251cbcf840de509e8999a5e66b77d23307dd494	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @DISEASE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+ccd3e24548b422aa0cde06db0bf4ee7102e7a7df	H syndrome is a rare autosomal recessive @DISEASE$ characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+a496374af79d37bcf53176229ba294921932c668	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+622654f7110aa25e51ba676ce28bf1e988a699e4	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+6c396545dbbd8c08f60b65488ebbb6cb90ade2fd	H syndrome is a rare autosomal recessive @DISEASE$ characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+c45f92b18712510ba3afc0222dc95930946aa089	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+c72ad3194889d364dd7d0aad6c89b9da47386720	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, @DISEASE$, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+b635850758ca3d6186f24c8c3a85a6c20cdf0e58	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+403c4c35539c22b129bfe1112de2c7772dac1c6e	[@DISEASE$ (hypotonia, hypomentia, @PHENOTYPICFEATURE$, obesity)].	has_symptom
+9c440013bb8f37a6c2c4684e5497639d3ba05fac	[@DISEASE$ (hypotonia, hypomentia, hypogonadism, @PHENOTYPICFEATURE$)].	false
+df9a595c6ec063af1ac610b69eabad4b178cab28	[Willi-Prader syndrome (hypotonia, hypomentia, @DISEASE$, @PHENOTYPICFEATURE$)].	false
+06718dc03a6ba29847b2b33265996e99a72b0eff	@DISEASE$ is characterized by hypotonia, hypomentia, @PHENOTYPICFEATURE$ and obesity.	has_symptom
+8d51ad95023c03e69c0dd2401854192895bb453c	Prader-Willi syndrome is characterized by hypotonia, hypomentia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+aded6f0f313b8795da29bd60af6b6727899bb9b7	@DISEASE$ is characterized by hypotonia, hypomentia, hypogonadism and @PHENOTYPICFEATURE$.	false
+cb46a2a50d1301782cf4d78307870255654d9a57	First described in 1956, @DISEASE$ is a neurogenetic condition characterized by infantile hypotonia, @PHENOTYPICFEATURE$ and obesity.	has_symptom
+483fe781324e46c1b80809073303b4f269d4ae7f	First described in 1956, @DISEASE$ is a neurogenetic condition characterized by infantile hypotonia, hypogonadism and @PHENOTYPICFEATURE$.	false
+53b005772fa31f31eb61bd8fac8f05f59368a357	First described in 1956, Prader-Willi syndrome is a neurogenetic condition characterized by infantile hypotonia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cb2c9969dc5b7e192f7fa1bd907a539efc64f61d	The @DISEASE$ is characterized by obesity hypotonia @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+0b743921dfc79454bba9cc1158cc2c1cd02b113d	The Prader-Willi syndrome is characterized by obesity hypotonia @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3f04d1924ba9abca6a0d697edf1f07f4c14f998d	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$ hypotonia hypogonadism and mental retardation.	false
+aaf9fc4c568d2314cc6d7c2c1d118cbb1ee6ab2d	The @DISEASE$ is characterized by obesity hypotonia hypogonadism and @PHENOTYPICFEATURE$.	false
+0596663a5d12eb2e07a785909c0fe75e3adb622b	The Prader-Willi syndrome is characterized by @PHENOTYPICFEATURE$ hypotonia @DISEASE$ and mental retardation.	false
+05e775a28a3d25dc5548b8f835cb4cc95109a9b4	@DISEASE$ is an uncommon disease first reported by Prader in 1956 and characterized by hypotonia, hypomentia, @PHENOTYPICFEATURE$ and obesity.	has_symptom
+bf709da8697e954d4b61356fd05f52bbb5b651fa	Prader-Willi syndrome is an uncommon disease first reported by Prader in 1956 and characterized by hypotonia, hypomentia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+14f39b8769b3654b8b77604609a7c262aabb9643	@DISEASE$ is an uncommon disease first reported by Prader in 1956 and characterized by hypotonia, hypomentia, hypogonadism and @PHENOTYPICFEATURE$.	false
+aee117a96fe6c41328683cd78eea69165b569688	Syndrome of hypotonia-hypomentia-@PHENOTYPICFEATURE$-obesity (HHHO) or @DISEASE$.	has_symptom
+e4f988952489c3252930503286c65267285f1b7e	Syndrome of hypotonia-hypomentia-hypogonadism-@PHENOTYPICFEATURE$ (HHHO) or @DISEASE$.	false
+31e193c6c05504b80d7dbc9e6c273662f9d4d612	Syndrome of hypotonia-hypomentia-@DISEASE$-@PHENOTYPICFEATURE$ (HHHO) or Prader-Willi syndrome.	false
+46539a50b9e4c43de88302f2cac0a38bd8645b2d	@PHENOTYPICFEATURE$ and pubertal development in @DISEASE$.	has_symptom
+0618a4d9eac2fe10ff029e483c322bc0b7a1ea9b	@DISEASE$ is a genetic disorder characterized by infantile hypotonia, obesity, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+b83ddd4791d570f556f79667752f74b788ca3b1a	Prader-Willi syndrome is a genetic disorder characterized by infantile hypotonia, @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+4038f89406ad3f9b0936304b6e5e0cb267e55a74	@DISEASE$ is a genetic disorder characterized by infantile hypotonia, obesity, hypogonadism and @PHENOTYPICFEATURE$.	false
+85c3fc2f43329a2305c14e40887b63e1cd74023e	Prader-Willi syndrome is a genetic disorder characterized by infantile hypotonia, obesity, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f64ae758c4d79531efd1647438d19e089ad319c4	@DISEASE$ is a genetic disorder characterized by infantile hypotonia, @PHENOTYPICFEATURE$, hypogonadism and mental retardation.	false
+480a978ac27bc44d02da0e0efb7d8891303ecaa2	Prader-Willi syndrome is a @DISEASE$ characterized by infantile hypotonia, @PHENOTYPICFEATURE$, hypogonadism and mental retardation.	false
+d5173a4d18a27dfc0851df5098ae32cf82578ac6	Prader-Willi syndrome is a @DISEASE$ characterized by infantile hypotonia, obesity, hypogonadism and @PHENOTYPICFEATURE$.	false
+4c1ba458c3e2146a94064f7fd6d693850a24aa5d	The variable @PHENOTYPICFEATURE$ in @DISEASE$ (PWS) has generally been attributed to hypothalamic dysfunction.	has_symptom
+5d22a5fd29998ad83a9e658fea21aaab22b69401	The @DISEASE$ consists of infantile hypotonia, failure to thrive, @PHENOTYPICFEATURE$ and developmental delay.	has_symptom
+dfbdc56100f256f6734c43cf4521774bea8a220e	The @DISEASE$ consists of infantile hypotonia, @PHENOTYPICFEATURE$, hypogonadism and developmental delay.	false
+faaaf695710dde449301c8f680d2a7245020588a	The Prader-Willi syndrome consists of infantile hypotonia, @PHENOTYPICFEATURE$, @DISEASE$ and developmental delay.	false
+d79f23fda731ce7c3fa53d249b98d14d68cfd008	Nevertheless, this neuropathological association is responsible for @PHENOTYPICFEATURE$ and epilepsy, and incites the search for a genetic origin like that in @DISEASE$.	has_symptom
+beae3b0ab72165fec96d12d296fd092b6106b096	@DISEASE$ is characterized by infantile spasms, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and a characteristic chorioretinopathy with lacunar defects.	has_symptom
+0061270f9cd6d43332f8748606d1d429ade4079a	Aicardi syndrome is characterized by infantile spasms, @PHENOTYPICFEATURE$, @DISEASE$, and a characteristic chorioretinopathy with lacunar defects.	false
+12fd343849930cfa40a370958e534c3d53ed0675	@DISEASE$ is characterized by infantile spasms, @PHENOTYPICFEATURE$, severe mental retardation, and a characteristic chorioretinopathy with lacunar defects.	false
+ec789de6173492d46d3b3ef718c2c5dd6379f898	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+6983dc343c4b15f9ab04cf3faaaa7fe536a8f977	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, @PHENOTYPICFEATURE$, electroencephalographic abnormalities, and severe mental retardation.	false
+e949eee9f9022a3e1dd8ca2609087a3cd7942b14	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, @PHENOTYPICFEATURE$, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation.	false
+5025fc6d427d2a1894b0720fe0c02895159ec249	This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, @PHENOTYPICFEATURE$, vertebral anomalies, electroencephalographic abnormalities, and @DISEASE$.	false
+de733ba109a45484ee46106f08a6b004489a2a51	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, @PHENOTYPICFEATURE$, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation.	false
+a53f366d414e123b847929f50e19d413248b40a6	This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, @PHENOTYPICFEATURE$, electroencephalographic abnormalities, and @DISEASE$.	false
+4828e66f6b45737e1fda6d5351dd0fcefab7ff76	This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, @PHENOTYPICFEATURE$, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and @DISEASE$.	false
+64524897a7481b7616db8d07162b3ffa9ab256c9	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or telecanthus, micrognathia, hypoplastic mandible, and low-set ears.	has_symptom
+4fe6ca4aee84067c25aec0fc47b4bea99d523843	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @DISEASE$ or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+0d04c31c666596f693827d0f80affbf1fc8e21de	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or @DISEASE$, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+a0f2f437c9b71e215c5f9b87326fca0e69dcdb9b	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or @DISEASE$, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+aaf4e442d884d951b21227805c8017d7be9c165e	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+6cd234df31ed2962899910995344f77589a2210b	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+9e9949297ddf466365738e67c2c6f1d1cef55c5c	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @DISEASE$ or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+ee717224f1bafd33c7aab1ed0d82b03fec2d0ccd	These are principally: benign neonatal familial convulsions, benign neonatal convulsions, benign myoclonic epilepsy in infancy, childhood absence epilepsy, @DISEASE$, juvenile @PHENOTYPICFEATURE$ epilepsy, epilepsy with generalised tonic-clonic seizures on awakening.	has_symptom
+dd95befb4b8617fe4fbbaa3d327273672c13df80	These are principally: benign neonatal familial convulsions, benign neonatal convulsions, benign @PHENOTYPICFEATURE$ epilepsy in infancy, childhood absence epilepsy, @DISEASE$, juvenile myoclonic epilepsy, epilepsy with generalised tonic-clonic seizures on awakening.	has_symptom
+3ae8deb41986ea7ee7469a9099852d2f9ae96b9f	Generalized idiopathic epilepsies starting between 12 and 18 years of age are mostly represented by juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$ and grand-mal on awakening.	has_symptom
+51222d66316aef87f92a8071a966dccf427a4b99	Conventional teaching is that juvenile @PHENOTYPICFEATURE$ epilepsy (JME) and @DISEASE$ (JAE) require lifelong antiepileptic drug (AED) treatment.	has_symptom
+5aeaf18fd71a82498bf9175064f981c738151bbc	Four had juvenile @PHENOTYPICFEATURE$ epilepsy, one had @DISEASE$, and one had IGE that could not be classified into a precise syndrome.	has_symptom
+4177efa7aeebd1d94dbdab7f8611449601776565	The IGEs included juvenile @PHENOTYPICFEATURE$ epilepsy (JME), @DISEASE$ (JAE), and epilepsy with generalized tonic clonic seizures (EGTCS).	has_symptom
+3966b662b5679d2df0675a38a46f5389c1886325	The IGEs included juvenile myoclonic epilepsy (JME), @DISEASE$ (JAE), and epilepsy with @PHENOTYPICFEATURE$ (EGTCS).	false
+07d692ab7ba67cfddfacb1bf6ec306193e854526	The IGEs included juvenile @DISEASE$ epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with @PHENOTYPICFEATURE$ (EGTCS).	false
+071cc24c30bce0402cc7b9bc0b00da742de8c05e	Linkage analyses were conducted in 60 families ascertained through IGE patients with juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$ or childhood absence epilepsy.	has_symptom
+fedf53dae98641ed581516e5c21e5fd58e84d81e	This study included patients with juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, and epilepsy with generalized tonic-clonic seizures alone.	has_symptom
+e24e67396c5015936e62e2440ffe8e5f3d5db3f0	This study included patients with juvenile myoclonic epilepsy, @DISEASE$, and epilepsy with @PHENOTYPICFEATURE$ alone.	false
+a15c9569ccca9d8305f36946c9f0414117e1a0bf	This study included patients with juvenile @DISEASE$ epilepsy, juvenile absence epilepsy, and epilepsy with @PHENOTYPICFEATURE$ alone.	false
+6ef7211abf6f69b558e2d64391eb846109bc40c4	These include juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, epilepsy with grand mal on awakening, benign partial seizures of adolescence and reading epilepsy.	has_symptom
+8adc720af7b612859151a4e49485a1d47e79bb8f	Twenty-six patients shared the features of juvenile @PHENOTYPICFEATURE$ epilepsy and @DISEASE$.	has_symptom
+5e0277284ad2ca6dd5f8df765a3f605e034cdf32	Linkage and association analyses were conducted in 63 families ascertained through IGE patients with juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, or childhood absence epilepsy.	has_symptom
+f1d1074e6a5ed838f63e2439ee4a6d5637e157c1	The duplication belongs to the @DISEASE$ (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like @PHENOTYPICFEATURE$, hypotonia, cognitive deficit, language delay and epilepsy.	has_symptom
+e7a18c303507c54dec7a334b5fc2ded66b950149	The duplication belongs to the 15q11q13 duplication syndrome (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like @DISEASE$, hypotonia, @PHENOTYPICFEATURE$, language delay and epilepsy.	false
+98f4bf5f8fde48305d36d785d89c82bda878b9d5	The duplication belongs to the @DISEASE$ (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like autism, hypotonia, @PHENOTYPICFEATURE$, language delay and epilepsy.	false
+bbab3916bececd6572a8c528e0f371a435f9cf43	@DISEASE$ is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by @PHENOTYPICFEATURE$ with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.	has_symptom
+a73f4fe98dc2d29086138f2c3a2aa716bf142ab6	Acrocapitofemoral dysplasia is a recently delineated autosomal recessive @PHENOTYPICFEATURE$, characterized clinically by @DISEASE$ with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+8487c27aeee78c2c78ac5aa4fc89eccc00962c2c	@DISEASE$ is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with @PHENOTYPICFEATURE$ and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+1a4823a16c61f8a568963747ca9a5c956173f0aa	@DISEASE$ is a recently delineated autosomal recessive @PHENOTYPICFEATURE$, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+8f36983e9db621b638b21f5a7b1d9fe04f6a7b78	Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by @DISEASE$ with @PHENOTYPICFEATURE$ and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+2d76ceb86b5e9d5aeaa3f2e52e97a2983ff61044	In @DISEASE$ type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic hypokalemia, @PHENOTYPICFEATURE$, nephrocalcinosis, and/or nephrolithiasis.	has_symptom
+72cd9dd535bcccb5960608f05ce35418fb64a057	In autosomal dominant distal renal tubular acidosis type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic @PHENOTYPICFEATURE$, @DISEASE$, nephrocalcinosis, and/or nephrolithiasis.	false
+58537372f56476602b6fb291af548f7c15143c2a	In @DISEASE$ type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic @PHENOTYPICFEATURE$, hypercalciuria, nephrocalcinosis, and/or nephrolithiasis.	false
+69bdf0c393e82cebbb3bfa45a67d36ffb7a4f0c2	Cardiac amyloid deposition in @DISEASE$ may cause increased QT dispersion (QTd), a marker for @PHENOTYPICFEATURE$.	has_symptom
+2d557fa24c83e334d98a0e55c72b73fa3e3d1fba	Based on LPs as a susceptibility marker for @PHENOTYPICFEATURE$, FMF patients, including the large majority of @DISEASE$ patients with amyloidosis, are seemingly not at an increased risk to develop arrhythmias.	has_symptom
+dd815f68505dabf68601a7b9b074eb8990f7a21a	Based on LPs as a susceptibility marker for @PHENOTYPICFEATURE$, @DISEASE$ patients, including the large majority of FMF patients with amyloidosis, are seemingly not at an increased risk to develop arrhythmias.	has_symptom
+143e111918fdb712cca03b93cf46d01a82c55ee9	In conclusion, patients with @DISEASE$ who are continuously treated with colchicine and have not developed amyloidosis, regardless of their clinical response, have normal QT variability parameters, indicating normal repolarization dynamics and suggesting no increased risk of repolarization-associated @PHENOTYPICFEATURE$.	has_symptom
+650b06aa4610a40d7839d94317122273aa9b4596	C21orf2 mutations have been recently found to cause isolated @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+13cedef2fdd022fe6fbedb26175dfe20d62996b6	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and @PHENOTYPICFEATURE$.	has_symptom
+0fb3154a1a2861709c7a943ac1f0d320cbd5bbcf	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive @DISEASE$ characterised by rhizomelia, @PHENOTYPICFEATURE$, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation.	false
+37b2e20b1b94029f7a10e04dd735c7c02b98f836	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, @PHENOTYPICFEATURE$, congenital @DISEASE$, facial dysmorphia, severe psychomotor defects and growth retardation.	false
+63561ac947754079f55ae9b5332f47265452f8ba	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital @DISEASE$, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+7f7580bba793ae13561872a6acb18f9affa6d242	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive @DISEASE$ characterised by rhizomelia, contractures, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+3ea59042c20e92a2f6d15dcb2dd1e3bce3a2a0af	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+2ab6a3c3d226a537f2e29a4e500f67583d92bb35	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, @PHENOTYPICFEATURE$, congenital cataracts, facial dysmorphia, severe psychomotor defects and @DISEASE$.	false
+c6146018341179dd8acfa1135a6e1ee633105ba0	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, @PHENOTYPICFEATURE$, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation.	false
+3c80e2fcc618cf4821d6ede116ca6f3ef587ed63	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and @DISEASE$.	false
+1ac4ce4f9c6dd3558478fe20b7ece08404e3f2c0	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic @PHENOTYPICFEATURE$, microcephaly, and severe psychomotor defects.	has_symptom
+44ffb774f315dcf313914a79ebb4cd3c46600888	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic @DISEASE$, @PHENOTYPICFEATURE$, and severe psychomotor defects.	false
+13a40b588f26b937265571f33475a88947f524ce	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, @PHENOTYPICFEATURE$, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+c1e3a36ebd125d44de5758c51e4308c25d1b445d	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, @PHENOTYPICFEATURE$ causing disproportionate somatic @DISEASE$, microcephaly, and severe psychomotor defects.	false
+259e3ae9552c0da7489f6ae59d97b99a6645c2e1	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, @PHENOTYPICFEATURE$, and severe psychomotor defects.	false
+e77a3305812082c2c58fb8d7f73cc7df98a31b59	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, @PHENOTYPICFEATURE$ causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+3260088b17c51197945ba86cf81646d847e4a6ec	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, @PHENOTYPICFEATURE$, skeletal dysplasia causing disproportionate somatic @DISEASE$, microcephaly, and severe psychomotor defects.	false
+d7a2aebc212407840202ed80a0921e1b89d4ecd8	His father had a submucous @PHENOTYPICFEATURE$, T cell dysfunction, and facial features consistent with the @DISEASE$.	has_symptom
+cbf1ada45fb7ebc8fc8513af9a490836fc11cac9	The etiology of the VPI included @PHENOTYPICFEATURE$ with or without cleft lip, neurogenic VPI, @DISEASE$, tumor resection or iatrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia.	has_symptom
+49729028fde40f716071399f88852e49be7683cd	The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, @DISEASE$, tumor resection or iatrogenic causes, submucous @PHENOTYPICFEATURE$, neurofibromatosis, and hemifacial microsomia.	has_symptom
+2dde0be285923767190127b1246d9899d465b31d	The etiology of the VPI included cleft palate with or without @DISEASE$, neurogenic VPI, velocardiofacial syndrome, @PHENOTYPICFEATURE$ resection or iatrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia.	false
+ac047470ae271e848a6a1d47710ab945d3599ec9	The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, @DISEASE$, @PHENOTYPICFEATURE$ resection or iatrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia.	false
+0e08ad977b64357fced42076e16a16d953ed9dfb	The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, velocardiofacial syndrome, @PHENOTYPICFEATURE$ resection or iatrogenic causes, submucous @DISEASE$, neurofibromatosis, and hemifacial microsomia.	false
+70bcaddc11fe2cfdd32346b1168756caed2511f0	The etiology of the VPI included @DISEASE$ with or without cleft lip, neurogenic VPI, velocardiofacial syndrome, @PHENOTYPICFEATURE$ resection or iatrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia.	false
+3be9e10b4cfb2b3f019aac2303814dd5c3bd2b24	The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, velocardiofacial syndrome, @PHENOTYPICFEATURE$ resection or iatrogenic causes, submucous cleft palate, neurofibromatosis, and @DISEASE$.	false
+ba0006c084225706768e8dfd21d740913f384ad5	@DISEASE$ (VCFS) is the most common genetic syndrome associated with @PHENOTYPICFEATURE$.	has_symptom
+c3a10798d7296eac8732e99b8dfa013ec151f7fc	@DISEASE$ (VCFS, or Shprintzen syndrome) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: @PHENOTYPICFEATURE$, cardiac anomalies, typical facies, and learning disabilities.	has_symptom
+764207bc77f55beb7025443ac3272de8cd9300e7	Velocardiofacial syndrome (VCFS, or @DISEASE$) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: @PHENOTYPICFEATURE$, cardiac anomalies, typical facies, and learning disabilities.	has_symptom
+d628bbbfda34273952d587adbd920a78503a37cf	Velocardiofacial syndrome (VCFS, or @DISEASE$) is the most common syndrome associated with @PHENOTYPICFEATURE$ and is characterized by the following major features: cleft palate, cardiac anomalies, typical facies, and learning disabilities.	false
+80f8db808b1f515448f6e35d58a49c5891b6e0f1	@DISEASE$ (VCFS, or Shprintzen syndrome) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: cleft palate, @PHENOTYPICFEATURE$, typical facies, and learning disabilities.	false
+4ca53ca09f17b411eec5daa0608bc8413bb20c6d	@DISEASE$ (VCFS, or Shprintzen syndrome) is the most common syndrome associated with @PHENOTYPICFEATURE$ and is characterized by the following major features: cleft palate, cardiac anomalies, typical facies, and learning disabilities.	false
+e9efcc37da098ee14db401087639447423620120	Velocardiofacial syndrome (VCFS, or Shprintzen syndrome) is the most common syndrome associated with @PHENOTYPICFEATURE$ and is characterized by the following major features: @DISEASE$, cardiac anomalies, typical facies, and learning disabilities.	false
+d86d74eb8026ef30892dbc7ad534d5a7d05a6c9c	Velocardiofacial syndrome (VCFS, or Shprintzen syndrome) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: @DISEASE$, @PHENOTYPICFEATURE$, typical facies, and learning disabilities.	false
+ffd1d4e0feadbd969b798fbd03bc4ed314c8d807	Velocardiofacial syndrome (VCFS, or @DISEASE$) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: cleft palate, @PHENOTYPICFEATURE$, typical facies, and learning disabilities.	false
+c9fdd0762c5b88f3ddc4152a9811d603d7c485a8	In this study, 10 children with cleft lip and palate, 10 with @PHENOTYPICFEATURE$ only, 7 with @DISEASE$, and 47 with normal structures were tested.	has_symptom
+1dc9f46fa8db15d9efda707b030da2baf2da26ff	Cohorts of 14 @DISEASE$ and 15 nonsyndromic patients without overt @PHENOTYPICFEATURE$ who underwent operative procedures to correct velopharyngeal insufficiency.	has_symptom
+f301703ee8f8df388f00fcf24883facabd7861b1	The @DISEASE$ is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, cardiac anomalies, characteristic facies, and learning disabilities.	has_symptom
+ab90b2184c3a932129dff042c12a08e6f18414e2	The velocardiofacial syndrome is an autosomal dominant disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, characteristic facies, and learning disabilities.	false
+e8488fab19eb6216954e403f385131bf483618c6	The @DISEASE$ is an autosomal dominant disorder characterized by cleft palate, @PHENOTYPICFEATURE$, characteristic facies, and learning disabilities.	false
+2989960b50c8c2b43c37167d1017d99d81353233	Hypernasality in @DISEASE$ (VCFS) is more severe, persistent, and difficult to manage compared to other populations with @PHENOTYPICFEATURE$ or velopharyngeal (VP) dysfunction.	has_symptom
+f390c09db307d21c8e817b51f9548daeea2ea5bc	Factors affecting articulation skills in children with @DISEASE$ and children with @PHENOTYPICFEATURE$ or velopharyngeal dysfunction: a preliminary report.	has_symptom
+e7c710c8865e09be82d216a90c2846514f5d7280	It is well known that typical cases of @DISEASE$ have a cardiac anomaly, thymic hypoplasia and a @PHENOTYPICFEATURE$.	has_symptom
+5c17ca768be3b694071aa8103fc6ced99dcdaab0	It is well known that typical cases of @DISEASE$ have a @PHENOTYPICFEATURE$, thymic hypoplasia and a cleft palate.	false
+af9bf9cacaf16568d3d602c8283fdc29c8ab4343	It is well known that typical cases of @DISEASE$ have a cardiac anomaly, @PHENOTYPICFEATURE$ and a cleft palate.	false
+ead79765566cfe2f3382f4f8087a61f53aff6c0a	It is well known that typical cases of 22q11 deletion syndrome have a cardiac anomaly, @PHENOTYPICFEATURE$ and a @DISEASE$.	false
+b2cbbbdb14585c6cbb11c3c1ebc3c4acf2db7edc	It is well known that typical cases of 22q11 deletion syndrome have a @PHENOTYPICFEATURE$, thymic hypoplasia and a @DISEASE$.	false
+df379be4c746bf63cbcc6c48c4b04e6defee7d7d	@DISEASE$ symptoms were severe headache in 5 patients, @PHENOTYPICFEATURE$ in 3 patients (1 stroke), and visual disturbance and ataxia in 1 patient.	has_symptom
+b248d103b41bb2f77bbaf35e868be216c6e7f73f	@DISEASE$ symptoms were severe headache in 5 patients, seizures in 3 patients (1 stroke), and visual disturbance and @PHENOTYPICFEATURE$ in 1 patient.	false
+5cb088abb1b26d30007f843b9b1336538e12b978	CHS symptoms were severe headache in 5 patients, @DISEASE$ in 3 patients (1 stroke), and visual disturbance and @PHENOTYPICFEATURE$ in 1 patient.	false
+4b09d00281fd7ad89123a944f0e7730516ffe655	Neurological manifestations of @DISEASE$ mainly include?peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and @PHENOTYPICFEATURE$.	has_symptom
+66d397e4afdf7a7121a26937dd22b21a947fb72b	Neurological manifestations of @DISEASE$ mainly include?peripheral neuropathy, @PHENOTYPICFEATURE$, tremors, cranial nerve palsies, intellectual decline and seizures.	false
+0ab78d32d10aa79915917d7628d228d1f03acbba	Neurological manifestations of Chediak-Higashi syndrome mainly include?@PHENOTYPICFEATURE$, ataxia, tremors, cranial nerve palsies, intellectual decline and @DISEASE$.	false
+18aee7f05d2f3dd5cd64cd768c20cf46961626e9	Neurological manifestations of Chediak-Higashi syndrome mainly include?peripheral neuropathy, @PHENOTYPICFEATURE$, tremors, cranial nerve palsies, intellectual decline and @DISEASE$.	false
+2367d75d4fb7771a32327be61db6caacb374641f	Neurological manifestations of @DISEASE$ mainly include?@PHENOTYPICFEATURE$, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.	false
+181c699f28125c669d9433a05769494696ff1ec8	In this review, we discuss the epidemiology and pathophysiology of @DISEASE$, clinical presentation including ipsilateral headache, @PHENOTYPICFEATURE$, and focal neurological deficits, and radiographic presentation.	has_symptom
+11b8ff38238d4171a0834cab8a79abc233164ef1	Patients' baseline features, pre-CAS gcOEF, post-CAS gcOEF, and incidence of @DISEASE$ (defined as headache, @PHENOTYPICFEATURE$, focal neurologic deficits, and/or restlessness) were evaluated.	has_symptom
+291a6cac877acd69f17f2b07cb4f67f110c244bc	@DISEASE$ was classified as mild (headache only) and moderate-severe (@PHENOTYPICFEATURE$, impaired level of consciousness, or development of?focal neurological signs).	has_symptom
+dc99a2a732d97516029d0762cf70adfc15f30747	In all instances, @DISEASE$ induced sustained interictal bursting and/or electrographic @PHENOTYPICFEATURE$.	has_symptom
+a88b21b98ca0f44a9cfd061cae259fd4185b9309	Cerebral hyperperfusion syndrome (@DISEASE$) after carotid endarterectomy is characterised by ipsilateral headache, hypertension, @PHENOTYPICFEATURE$, and focal neurological deficits.	has_symptom
+76a88bceab94e5eb0d2c47453d24cbcbc5ed5db9	We describe a patient with @DISEASE$ presenting with @PHENOTYPICFEATURE$ 24 h following carotid endarterectomy.	has_symptom
+fe861a1904403676e63ed95fc6cf457b4bf76835	Clinical variables were analysed to identify risk factors for @DISEASE$, which was defined as cases with postoperative development of a severe headache, new neurological deficits without infarction, @PHENOTYPICFEATURE$ or intracerebral haemorrhage.	has_symptom
+0c26e73ae711c53733a40b2194e3b1d943154146	@DISEASE$ represents a spectrum of clinical symptoms ranging from severe unilateral headache, to @PHENOTYPICFEATURE$ and focal neurologic defects, to intracerebral hemorrhage in its most severe form.	has_symptom
+fa6e55bc484093303abc8fb01642c3387a35edd7	The case is presented of a 48-year-old female suffering from diffuse cutaneous systemic sclerosis (diffuse scleroderma) since 8 years, who went into renal failure as part of hemolytic uremic syndrome following 3 weeks' treatment with 3.8 mg/kg cyclosporin A. Hemolytic uremic syndrome has previously been described in transplant patients receiving cyclosporin A. There are also four cases reported in the literature of @PHENOTYPICFEATURE$ developing in middle aged females with @DISEASE$ after short-term use of low dosage cyclosporin A treatment.	has_symptom
+f27911a763f35a3f9a9edf59bf24fad877ec78eb	The case is presented of a 48-year-old female suffering from @DISEASE$ (diffuse scleroderma) since 8 years, who went into renal failure as part of hemolytic uremic syndrome following 3 weeks' treatment with 3.8 mg/kg cyclosporin A. Hemolytic uremic syndrome has previously been described in transplant patients receiving cyclosporin A. There are also four cases reported in the literature of @PHENOTYPICFEATURE$ developing in middle aged females with diffuse cutaneous systemic sclerosis after short-term use of low dosage cyclosporin A treatment.	has_symptom
+19bef75a7dea43cf467ab6ac375eb9ba8ec7b729	The diagnosis of @DISEASE$ should be taken into account in the presence of @PHENOTYPICFEATURE$ possibly due to single parenchymal lesions, even in non-endemic regions for this parasitic infection.	has_symptom
+542e37a66be8196c47c7b18ac58d78580d94306f	We report the case of an Italian, 50 year-old-man with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+919373883b89d12a8865a5368f86a822ee24daa2	Case 2. 8 years old female admitted to the hospital because of fever, headache and @PHENOTYPICFEATURE$ of sudden onset; @DISEASE$ was diagnosed and following improvement the patient was discharged and readmitted on two occasions because of relapse and worsening of her illness, she died 2 months after the onset of her disease that was diagnosed by autopsy as GAE due to Balamuthia mandrillaris.	has_symptom
+968e909158e840089185017bb59a4a51e4f771f7	Arthritis--urticarian eruptions--@PHENOTYPICFEATURE$: @DISEASE$ without kidney amylosis].	has_symptom
+6bba58b81e3c65a560cc2a78fb27492b28b5a437	@DISEASE$ (MWS) is a rare condition characterized by urticaria, arthralgias, @PHENOTYPICFEATURE$ and amyloid nephropathy.	has_symptom
+c29d5d365ada8373dc9e91b23122a1b7edb769d1	@DISEASE$ (MWS) is a rare auto-inflammatory disease characterized by the presence of recurrent urticaria, @PHENOTYPICFEATURE$ and amyloidosis.	has_symptom
+660e8018d70831beccf123c7f5257b1e4aba8e5d	We propose that this patient has @DISEASE$ without @PHENOTYPICFEATURE$, occurring de novo.	has_symptom
+b12c140bdd9b5dee229c68b805d838bbc4b947e0	Anakinra improves sensory @PHENOTYPICFEATURE$ in a Japanese patient with @DISEASE$, possibly by inhibiting the cryopyrin inflammasome.	has_symptom
+8116c0cc3f2e8c11407be30d0bd4ffce319afcf0	This patient is likely to represent a variant of the @DISEASE$ (chronic relapsing urticaria, fever, arthralgia, @PHENOTYPICFEATURE$ and renal amyloidosis).	has_symptom
+f93b57ca58d0ac0fd7c6d5c02441b1dcb9dee6fc	This patient is likely to represent a variant of the @DISEASE$ (chronic relapsing urticaria, @PHENOTYPICFEATURE$, arthralgia, deafness and renal amyloidosis).	false
+546464ef89feb72584cef7addfe148ab4e5161e9	This patient is likely to represent a variant of the Muckle-Wells syndrome (chronic relapsing urticaria, @PHENOTYPICFEATURE$, arthralgia, deafness and renal @DISEASE$).	false
+1de177478512867cf16416a0f59f1c3dbadad8f5	This patient is likely to represent a variant of the Muckle-Wells syndrome (chronic relapsing urticaria, @PHENOTYPICFEATURE$, arthralgia, @DISEASE$ and renal amyloidosis).	false
+922a57c18991273b4b44782c74be01abebdcc557	[@DISEASE$ (urticaria, @PHENOTYPICFEATURE$ and amyloidosis).	has_symptom
+5ae587c462e3eacd467d77568f5f378e8e7633e8	[@DISEASE$ or association of joint pain attacks, urticarial outbreaks and sensory @PHENOTYPICFEATURE$?].	has_symptom
+ade5ae286f500c86c205718d544f5b888ed76563	[@DISEASE$ or association of @PHENOTYPICFEATURE$ attacks, urticarial outbreaks and sensory deafness?].	false
+1f7eef6174460733aeeaa62d6a9adb4e9f64107c	[Muckle-Wells syndrome or association of @PHENOTYPICFEATURE$ attacks, urticarial outbreaks and sensory @DISEASE$?].	false
+6c5557054903f21f0e02402ed7279f74a5a6e259	The triad of renal amyloidosis, inner-ear @PHENOTYPICFEATURE$ and recurrent urticaria is characteristic of @DISEASE$, which has a hereditary basis.	has_symptom
+27922e75b9d132f702ce3951ea9ee7331253d9df	Recovery from @PHENOTYPICFEATURE$ in a patient with @DISEASE$ treated with anakinra.	has_symptom
+b248d103b41bb2f77bbaf35e868be216c6e7f73f	@DISEASE$ symptoms were severe headache in 5 patients, seizures in 3 patients (1 stroke), and visual disturbance and @PHENOTYPICFEATURE$ in 1 patient.	has_symptom
+aa58dce928c04c8f7b0cf4af7272dd36573dde4b	CHS symptoms were severe headache in 5 patients, @PHENOTYPICFEATURE$ in 3 patients (1 stroke), and visual disturbance and @DISEASE$ in 1 patient.	false
+df379be4c746bf63cbcc6c48c4b04e6defee7d7d	@DISEASE$ symptoms were severe headache in 5 patients, @PHENOTYPICFEATURE$ in 3 patients (1 stroke), and visual disturbance and ataxia in 1 patient.	false
+a2a37372e123edc51b203da244a29e1a6c979e32	We also identified the mutation of the LYST gene, that is causative gene for @DISEASE$, for the autosomal recessive complicated spastic paraplegia with @PHENOTYPICFEATURE$ and neuropathy.	has_symptom
+66d397e4afdf7a7121a26937dd22b21a947fb72b	Neurological manifestations of @DISEASE$ mainly include?peripheral neuropathy, @PHENOTYPICFEATURE$, tremors, cranial nerve palsies, intellectual decline and seizures.	has_symptom
+e8477f6772e930fe99ea17bc87c48608635f8495	Neurological manifestations of Chediak-Higashi syndrome mainly include?@PHENOTYPICFEATURE$, @DISEASE$, tremors, cranial nerve palsies, intellectual decline and seizures.	false
+2367d75d4fb7771a32327be61db6caacb374641f	Neurological manifestations of @DISEASE$ mainly include?@PHENOTYPICFEATURE$, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.	false
+4b09d00281fd7ad89123a944f0e7730516ffe655	Neurological manifestations of @DISEASE$ mainly include?peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and @PHENOTYPICFEATURE$.	false
+710f348baa1e91c67e6f95683b0facb8aafaec9e	Neurological manifestations of Chediak-Higashi syndrome mainly include?peripheral neuropathy, @DISEASE$, tremors, cranial nerve palsies, intellectual decline and @PHENOTYPICFEATURE$.	false
+00e725bdd8581f7c15c95963c31d7c2e2d33db62	The adult form of @DISEASE$ has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and @PHENOTYPICFEATURE$.	has_symptom
+149a1266ad9dfa6d2ed48b27e6fa6535e71ec15b	We diagnosed these patients as having adult @DISEASE$ presenting spastic paraplegia with @PHENOTYPICFEATURE$ and neuropathy.	has_symptom
+30b538a1aab4f3c3bd6a84c951aed80edd3c5ee2	We evaluated the electroencephalograms (EEGs) of 18 children with @DISEASE$ who lacked a history of @PHENOTYPICFEATURE$.	has_symptom
+1fa81a9893e9eaf011d8692f4e427a4980f9f9af	To date, this is the largest study of EEGs in children diagnosed with @DISEASE$ without @PHENOTYPICFEATURE$.	has_symptom
+63c98435bf2e782c2516e8f444857d8af4378a5e	In conclusion, patients with @DISEASE$ should be followed up closely for complications such as feeding difficulty, malnutrition, @PHENOTYPICFEATURE$, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.	has_symptom
+198fc2715d1ecc7ff530db8cd21c8d569e57d5c0	In conclusion, patients with @DISEASE$ should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, @PHENOTYPICFEATURE$, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.	false
+1544a564fde629db71e567921bd097689fce85ea	In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, @DISEASE$, @PHENOTYPICFEATURE$, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.	false
+9e46ad913dc4818268a34513628ad34a9ec69acc	In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, @PHENOTYPICFEATURE$, infection, and osmoreceptor-hypothalamus-@DISEASE$ axis abnormalities.	false
+faa39b05c8214bce257f2e9b0d1c8cf4d04c7a94	@DISEASE$ (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, @PHENOTYPICFEATURE$, teeth, oral and cardiac abnormalities.	has_symptom
+77cb41da7fbf0463fe1ba78b5d9c5313d60694e8	Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, @DISEASE$, teeth, oral and @PHENOTYPICFEATURE$.	false
+23d6993dba18aa0e837747d0f872553eee675023	Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly, @DISEASE$, teeth, oral and cardiac abnormalities.	false
+6819ea047f2724c7607df2ff95b43073fff14033	@DISEASE$ (EVC) is a rare developmental disorder characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities.	false
+f6cc6cbd8dd3e447f19682bd527c4d2e6380c897	@DISEASE$ (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and @PHENOTYPICFEATURE$.	false
+37e9d7805047e5443834ace379914042abf8cba7	@DISEASE$ is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, @PHENOTYPICFEATURE$ and in 50-60% cases of congenital cardiac defects.	has_symptom
+0cbe7bd9a2845cb8ba2db148f02ef9d0b8353f86	@DISEASE$ is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and @PHENOTYPICFEATURE$, nail dysplasia and in 50-60% cases of congenital cardiac defects.	false
+c1afa4a4ca49e421e532c3f55e68890577f660c5	Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and @PHENOTYPICFEATURE$, @DISEASE$ and in 50-60% cases of congenital cardiac defects.	false
+0b454e2a5759b31c4b3bcd30fba4c6c778a3a790	@DISEASE$ is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, @PHENOTYPICFEATURE$ and teeth, and an approximately 60% incidence of congenital malformations of the heart.	has_symptom
+621a0f894e6ece3ad42b8fdad03c764a19aa8d08	@DISEASE$ is an autosomal recessive disorder manifest by @PHENOTYPICFEATURE$, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart.	false
+2f4c2bb020031ea132a97cdc04f4ac5f65aae70a	Ellis - van Creveld syndrome is an autosomal recessive disorder manifest by @PHENOTYPICFEATURE$, thoracic dystrophy, postaxial polydactyly, @DISEASE$ and teeth, and an approximately 60% incidence of congenital malformations of the heart.	false
+295044b3c9f15d158e99d25e1ea6bb09662ec361	Ellis-van Creveld (EVC) syndrome (@DISEASE$, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and @PHENOTYPICFEATURE$ and teeth.	has_symptom
+e88a4366c70acf4a0fad95eaf8a4bdc0db61d874	Ellis-van Creveld (EVC) @DISEASE$ (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+987e5aedd286d1f06c6c090b9a11f2c65a33134a	Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly and @DISEASE$ and teeth.	false
+f4a6cb281b9ebd739c1b4f4875e6e37f2d517e65	Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and @DISEASE$ and teeth.	false
+601c2fe9ac861cd97608f488ec632bd318f63c6b	Ellis-van Creveld (EVC) syndrome (@DISEASE$, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+df061328de6b53c6f3cb5c21cf3538e27efcb0b8	Ellis-van Creveld (EVC) @DISEASE$ (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+c66e4008475231af6afb1c5a1ffa3c67a7f4b299	Ellis-van Creveld (EVC) syndrome (@DISEASE$, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+b49782ea66bda94ff87ef0d53fef2ada7d6b24bc	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with short limbs accompanied by postaxial polydactyly, @PHENOTYPICFEATURE$, and dental anomalies.	has_symptom
+6f2c5eba05f27d6f31848c9c59e6376c94d98974	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, @PHENOTYPICFEATURE$, and dental anomalies.	has_symptom
+f8bf86d671ca43f8b1665cef7e6866d02a476f16	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and @PHENOTYPICFEATURE$.	false
+ba724920e54575b5013c5737798b5f3098e4f577	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and @PHENOTYPICFEATURE$.	false
+3b9d36fc0f82c6b9dc34f1d2af84d8d6185b41f0	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies.	false
+86a84dc47838aa24ef7fe4fe88dcb042d8ce78ce	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies.	false
+eb9ef14f10c9ed6df1f9ee17099fda83357f2d1b	Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, @DISEASE$, and dental anomalies.	false
+e2221df0560e3ea6476820b6d08a38cada86714e	Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+784c9293cc1293d283675371cdae0fba7184c97f	@DISEASE$ (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and @PHENOTYPICFEATURE$ and teeth.	has_symptom
+8c4f07ba00511e72f7077ed56b915a4822a886c9	@DISEASE$ (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly, and dysplastic nails and teeth.	false
+e78ef06ad74d1c3e7ec21209356ab1f691c2b471	Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly, and @DISEASE$ and teeth.	false
+e8eaf3095d8273c1324761ca1d8d2e8cd5369381	@DISEASE$ (EvC) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth.	false
+a16d73e89c291592d416df50a64c553f809b6fcc	Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly, and @DISEASE$ and teeth.	false
+f01b7899d1014a21007baa8aa253003f7698f8b2	@DISEASE$ (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and @PHENOTYPICFEATURE$ and teeth.	has_symptom
+09d75ed217c8dced14f5ad6acf76f2dc1025adc5	@DISEASE$ (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+0d9c9d54146be4da14c316dd56fa763757c62707	@DISEASE$ (EvC, MIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+663e60023789d72ebe206ef5092c2a1b05980cfe	Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and @DISEASE$ and teeth.	false
+a8e9f6b8e8bcd2cfeabf357f5b42863799c8c733	Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly and @DISEASE$ and teeth.	false
+dc73de7cd8dbbc53e2d20a78a02fb37d9d09e9c9	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, @PHENOTYPICFEATURE$, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	has_symptom
+15cb64f9e29649f6a0625a136f1b561ea1ca71d4	Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, @DISEASE$, @PHENOTYPICFEATURE$, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+5a3d336bdd52f7228df6d747c213fdb457e44028	Ellis-van Creveld syndrome is an autosomal recessive @PHENOTYPICFEATURE$ primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, @DISEASE$, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+77adde15f4a4918428fc126c77ba21c853f3a609	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial @PHENOTYPICFEATURE$ (PAP) (bilateral) of hands and feet.	false
+4fd95c4927ba9a0c84418d8138f394cf7d67e941	Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, @DISEASE$, cardiovascular malformations, post-axial @PHENOTYPICFEATURE$ (PAP) (bilateral) of hands and feet.	false
+c08c2baa93654fde19e8e5275861e36d7b01c317	Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, @PHENOTYPICFEATURE$, @DISEASE$, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+b5bfb28ba2ad04863afcd56125822c940cc0d2cc	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$ primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+15c5b20fec739ea71f26a276590616b081f6419e	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, @PHENOTYPICFEATURE$, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+6e0ca81a92b3ef38c0f3c8dfcfa57707ca498099	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, @PHENOTYPICFEATURE$, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+0f497e2b44f6e2ccb9b8eed23ada715b4d95dea3	@DISEASE$ (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, @PHENOTYPICFEATURE$, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	has_symptom
+7fe406e1f2dc71273fcbc2c0177ee038894a4437	@DISEASE$ (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, @PHENOTYPICFEATURE$.	false
+03e33cedd380430d4c19c151520e20a177d1b053	@DISEASE$ (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, @PHENOTYPICFEATURE$, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+5f704c526c1fcf51bfcb1778b9c3be993561fd48	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, @DISEASE$, orofacial abnormalities and, in a proportion of patients, @PHENOTYPICFEATURE$.	false
+ff249ea43da9fa07cecf1a215f15b66054ae0a8f	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising @DISEASE$, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, @PHENOTYPICFEATURE$.	false
+273143d1ed76d93ac682768e83120bf9029fdc1d	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, @PHENOTYPICFEATURE$, @DISEASE$, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+a77ee281f7f4ce2d80df3ab146352ec95f29e554	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising @DISEASE$, @PHENOTYPICFEATURE$, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+f173140ca4c93739da33e193141685f77961d730	BACKGROUND @DISEASE$ is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and @PHENOTYPICFEATURE$ and teeth.	has_symptom
+7ab6e980d6cbc404373a606471c19a51dfe8c22c	BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by @PHENOTYPICFEATURE$, limb shortening, narrow chest, postaxial polydactyly and @DISEASE$ and teeth.	false
+6c1c5c5e54b294bd360b6908593a4f7ffcc2cea9	BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-@DISEASE$ characterized by @PHENOTYPICFEATURE$, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+08b1207e34156d1131061de46adc4a099b3e4f64	BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, @PHENOTYPICFEATURE$, narrow chest, postaxial polydactyly and @DISEASE$ and teeth.	false
+980623759656e58df1f80843cbf4054233bd0afb	BACKGROUND @DISEASE$ is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, @PHENOTYPICFEATURE$, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+c0ccc61a11e05b8d005077385c3dbb398bbdd0ba	BACKGROUND @DISEASE$ is an autosomal recessive chondro-ectodermal dysplasia characterized by @PHENOTYPICFEATURE$, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+daba292392837b61074acbf34dec87fb5d1d4563	BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-@DISEASE$ characterized by disproportionate short stature, @PHENOTYPICFEATURE$, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+48221c4e3a09c9267ff423274ccbe36137742ad8	We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with @DISEASE$ (AHDS), an X linked condition characterised by @PHENOTYPICFEATURE$ and neurological dysfunction.	has_symptom
+f9145666119c5212f226849c1489d1fc950b2126	We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with Allan-Herndon-Dudley syndrome (@DISEASE$), an X linked condition characterised by @PHENOTYPICFEATURE$ and neurological dysfunction.	has_symptom
+d44fb7edcf326a406a8d0d580757dfbe52534dab	One of these, monocarboxylate transporter 8 (MCT8) is mutated in @DISEASE$, a @PHENOTYPICFEATURE$ associated with abnormal thyroid hormone constellations.	has_symptom
+1e6ca241aa1e6130dbcb7919abc51e2631847ee0	@DISEASE$ (AHDS, MIM 300523) is an X-linked neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ hypotonia, diminished muscle mass, and progressive spastic paraplegia.	has_symptom
+2829e3260b90263bb3d1b5d1ca6604495b33a471	Monocarboxylate transporter 8 (MCT8) is a plasma membrane thyroid hormone transport protein, which has recently gained much attention, since mutations in MCT8 are associated with @PHENOTYPICFEATURE$ in patients afflicted with the @DISEASE$.	has_symptom
+54fe72f12375f167b1a5fe018af7e92de8336b18	Recently, the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter, and MCT8 mutations have been associated with @DISEASE$, an X linked condition characterized by @PHENOTYPICFEATURE$, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia.	has_symptom
+5fb392a2cd98933eec53ee72b37c41863aff06df	Recently mutations in the SLC16A2 gene coding for the monocarboxylate thyroid hormone transporter 8, MCT8, have been associated with @DISEASE$ (AHDS), an X-linked condition characterized by @PHENOTYPICFEATURE$, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia.	has_symptom
+05d6abf924c7813b16c2bedf725595f7637f4eec	Recently mutations in the SLC16A2 gene coding for the monocarboxylate thyroid hormone transporter 8, MCT8, have been associated with Allan-Herndon-Dudley syndrome (@DISEASE$), an X-linked condition characterized by @PHENOTYPICFEATURE$, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia.	has_symptom
+2de0c8f4ac79aa9d03e8e8f7978122e7a248e11b	We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with @PHENOTYPICFEATURE$ (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with @DISEASE$.	has_symptom
+4b82ee8fb1d7bff49fc6ff7123bae7fde20f9845	@DISEASE$ (PTHS) is a rare developmental disorder associated with @PHENOTYPICFEATURE$, facial abnormalities, and intermittent hyperventilation.	has_symptom
+ab59e3482fe75068de753e781f4ebf5bb0f83838	Pitt-Hopkins syndrome (PTHS) is a rare developmental disorder associated with @DISEASE$, @PHENOTYPICFEATURE$, and intermittent hyperventilation.	false
+b48799d75c906d37873f7ba0b41008203ad2e81a	@DISEASE$ (PTHS) is a rare developmental disorder associated with severe mental retardation, @PHENOTYPICFEATURE$, and intermittent hyperventilation.	false
+dcf7bc3db969f7ffa4602dd86a55a33c9b9d2c85	Haploinsufficiency of the TCF4 (formatting follows IUPAC nomenclature: TCF4 protein/protein function, Tcf4 rodent gene cDNA mRNA, TCF4 human gene cDNA mRNA) gene causes the @DISEASE$-a neurodevelopmental disease characterized by @PHENOTYPICFEATURE$.	has_symptom
+7e1811565b65720027ab08da12a77cc8bc260977	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, characteristic dysmorphic features, and susceptibility to childhood-onset seizures and intermittent episodes of hyperventilation.	has_symptom
+739459b00fae0c184ef4b055ef5585e1d8ff370c	@DISEASE$ is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset @PHENOTYPICFEATURE$ and intermittent episodes of hyperventilation.	false
+87ed92ce0e6f781025ae6cc322e6085ed4180fe2	Pitt-Hopkins syndrome is characterized by @DISEASE$, characteristic dysmorphic features, and susceptibility to childhood-onset @PHENOTYPICFEATURE$ and intermittent episodes of hyperventilation.	false
+8aaabafb17e1320cc34814f88c7ae151544b783e	Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of @DISEASE$ (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct facial gestalt, breathing anomalies and @PHENOTYPICFEATURE$.	has_symptom
+597ee0a30dac0f49ecc6d6ff8ca4ef422215b714	Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of @DISEASE$ (PTHS), an underdiagnosed @PHENOTYPICFEATURE$ syndrome characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation.	false
+07b9ef30250f246f4192b6372a15e947ce2e0a26	Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed @PHENOTYPICFEATURE$ @DISEASE$ characterised by a distinct facial gestalt, breathing anomalies and severe mental retardation.	false
+00c723d0094968a71c9307bff6893852b9392ecc	Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed @PHENOTYPICFEATURE$ syndrome characterised by a distinct facial gestalt, breathing anomalies and @DISEASE$.	false
+3cf3afe3d637385e66151c44a32f815091ce7642	@DISEASE$ (PHS) is characterized by @PHENOTYPICFEATURE$, characteristic facial features including a wide mouth and intermittent overbreathing.	has_symptom
+017a20796559192202ca3f7bbc13b7fa5bbb6b5e	@PHENOTYPICFEATURE$ with breathing abnormalities (@DISEASE$) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.	has_symptom
+a5ab5d450d48e8d21eeb3ffcdd4504c3d5006d85	Herein, we describe two siblings with @DISEASE$ born from consanguineous parents who were referred for complaints of recurrent @PHENOTYPICFEATURE$, gingivitis, purulent otitis media, and both lower and upper respiratory tract infections.	has_symptom
+03ee7594eef15cc60dcb149e37efb393e5d614aa	We report the case of a 6-year-old boy diagnosed with @DISEASE$ (AML-M3V) when he presented with pallor, @PHENOTYPICFEATURE$, anorexia, and fatigue.	has_symptom
+c7488756f1e38f5ca6b3983bd72bb5d6601dae6c	@DISEASE$ (NPS) is an inherited disease with characteristic nail, limb, and @PHENOTYPICFEATURE$.	has_symptom
+2fcd08aad33a292ab971d1e92e4d5f2e123765d0	We report on elucidation of molecular basis for syndromic ID associated with @PHENOTYPICFEATURE$, polydactyly, and MRI features suggestive of @DISEASE$ using homozygosity mapping followed by exome sequencing.	has_symptom
+cddb05263fa737ea54903ac217987711aff5e955	We report on elucidation of molecular basis for @DISEASE$ ID associated with ptosis, @PHENOTYPICFEATURE$, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing.	false
+97233eb67931a2e12fe0ed585f07ac9ca46dd49a	We report on elucidation of molecular basis for syndromic ID associated with @DISEASE$, @PHENOTYPICFEATURE$, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing.	false
+1c08ef0a2c6b7b48f2c37bb338fa182f42a1ee18	We report on elucidation of molecular basis for syndromic ID associated with ptosis, @PHENOTYPICFEATURE$, and MRI features suggestive of @DISEASE$ using homozygosity mapping followed by exome sequencing.	false
+549748fb94867bbdf376e3acf3b541ffa53cbe67	However, a variety of infections can result in a false-positive ANCA test, and especially subacute bacterial endocarditis (SBE) with the presence of ANCAs occasionally mimics the clinical manifestations of an @DISEASE$ such as skin @PHENOTYPICFEATURE$ and glomerulonephritis.	has_symptom
+198fc2715d1ecc7ff530db8cd21c8d569e57d5c0	In conclusion, patients with @DISEASE$ should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, @PHENOTYPICFEATURE$, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.	has_symptom
+c39c8dd1fe253e050efcc910847ab749dcd549b4	In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, @PHENOTYPICFEATURE$, @DISEASE$, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.	false
+552b7cdaf7833b313b5bb9f04bd685aaa11e202f	In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, @PHENOTYPICFEATURE$, spasticity, infection, and osmoreceptor-hypothalamus-@DISEASE$ axis abnormalities.	false
+63c98435bf2e782c2516e8f444857d8af4378a5e	In conclusion, patients with @DISEASE$ should be followed up closely for complications such as feeding difficulty, malnutrition, @PHENOTYPICFEATURE$, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.	false
+1a22b558d4455b0821246d63e4ffc7a28dbc6a23	The case was diagnosed as one of @DISEASE$ and ocular @PHENOTYPICFEATURE$.	has_symptom
+f2ce9af2896476f3b786b245856b639a9be9f563	This data article contains complementary figures to the research article "Mitochondrial response to the @DISEASE$: some clues to understand the positive dietary response in this form of @PHENOTYPICFEATURE$" [1].	has_symptom
+bebf6ea0abd7257fba8ac27bb40562e98a832a4b	Mitochondrial response to the @DISEASE$: Some clues to understand the positive dietary response in this form of @PHENOTYPICFEATURE$.	has_symptom
+407e6f712292eccded33da509126986bd59c8a40	@DISEASE$ is associated with reductions in intravascular space, increased extravascular space from @PHENOTYPICFEATURE$ and impaired renal function.	has_symptom
+75b63df003c5f4cb550f9d78ab1085d7abf7b5bf	@DISEASE$ is a devastating pregnancy-related syndrome characterized by the onset of hypertension, proteinuria and @PHENOTYPICFEATURE$.	has_symptom
+2176efc086aa376092a5e685a5e56a741467a002	@DISEASE$ is a pregnancy-specific condition of increased blood pressure accompanied by proteinuria, @PHENOTYPICFEATURE$, or both.	has_symptom
+c011b9b26457351ede8ac2bdd403d81a5bc21d43	@DISEASE$ is a potentially fatal complication of human pregnancy characterized by hypertension, proteinuria, and @PHENOTYPICFEATURE$.	has_symptom
+3b49782d3500390d923054b940367043be3f75e8	@DISEASE$ patients had significantly less severe edema, less cytotoxic edema, hemorrhage and contrast enhancement, while more frequent complete resolution of @PHENOTYPICFEATURE$ and less frequent residual structural lesions were seen on follow-up imaging.	has_symptom
+cd308d86a4a886e6b225cdbf16f556345f0e6776	@DISEASE$ patients had significantly less severe edema, less cytotoxic @PHENOTYPICFEATURE$, hemorrhage and contrast enhancement, while more frequent complete resolution of edema and less frequent residual structural lesions were seen on follow-up imaging.	has_symptom
+94c5725ad4b09634331050ac4b0904032feec27f	@DISEASE$ patients had significantly less severe @PHENOTYPICFEATURE$, less cytotoxic edema, hemorrhage and contrast enhancement, while more frequent complete resolution of edema and less frequent residual structural lesions were seen on follow-up imaging.	has_symptom
+e307a9428b0187012d09811a5c11b146c10c4fe0	@DISEASE$ is characterized by the triad of hypertension, proteinuria, and @PHENOTYPICFEATURE$ but these findings are not specific.	has_symptom
+179e5c0971f8b7c55f0cd9fe19e2c7a533d314ef	@DISEASE$ is a serious pregnancy complication characterized by hypertension, proteinuria with or without pathological @PHENOTYPICFEATURE$.	has_symptom
+4a935e59cbce17af1d872c534e8b547b397c2de0	@DISEASE$ is characterized by the clinical triad of new hypertension, proteinuria, and @PHENOTYPICFEATURE$ after 20 wk of gestation.	has_symptom
+78af4fa6cd1b6ced75fb6098ddb63f34fb351757	@DISEASE$ is characterized by maternal hypertension, proteinuria, @PHENOTYPICFEATURE$, and shallow placental invasion.	has_symptom
+42fa3b43d1a72d8408b4536d0137cc4f5c6cbaae	@DISEASE$ is a systemic disease of pregnancy characterized by maternal hypertension, proteinuria, and @PHENOTYPICFEATURE$.	has_symptom
+b915ad374984f5f898f7d2a855e093c46cbe3c3d	The @DISEASE$ (NMS) is an uncommon disorder characterised by muscular stiffness and @PHENOTYPICFEATURE$.	has_symptom
+2745e56a2b59df3d77a60950e9c012084fce338f	The neuroleptic malignant syndrome (@DISEASE$) is an uncommon disorder characterised by muscular stiffness and @PHENOTYPICFEATURE$.	has_symptom
+0c6ed480d118e0f4d47c0f8ae17a30b59302e6b2	Neuroleptic malignant syndrome (@DISEASE$) is a potentially fatal complication of neuroleptic therapy, characterized by @PHENOTYPICFEATURE$, rigidity, mental status changes, and autonomic instability.	has_symptom
+395d7ee2518ce4c186c0a450eb88fc99bf274e6a	@DISEASE$ (NMS) is a potentially fatal complication of neuroleptic therapy, characterized by @PHENOTYPICFEATURE$, rigidity, mental status changes, and autonomic instability.	has_symptom
+aa8b66d15bfdc6820318658ba13272187aee798d	@PHENOTYPICFEATURE$ and rigidity in @DISEASE$ may result from involvement of separate central dopaminergic pathways.	has_symptom
+3bfec7152a91f4024382d2a4086b07fd314bb44a	Neuroleptic malignant syndrome (@DISEASE$) is a rare, but sometimes fatal, adverse reaction to neuroleptics characterized principally by @PHENOTYPICFEATURE$ and rigor.	has_symptom
+37e44d0488d7db76d9ca3a1a9c41102b43c6f640	@DISEASE$ (NMS) is a rare, but sometimes fatal, adverse reaction to neuroleptics characterized principally by @PHENOTYPICFEATURE$ and rigor.	has_symptom
+0db680fbd4c4123dc754daadf140427803648aac	A few theoric informations differentiate extrapyramidal symptoms with @PHENOTYPICFEATURE$ and @DISEASE$.(ABSTRACT	has_symptom
+873ac6fa15e96315005e40c745b49bfd898a8b15	Two patients are described who presented with clinical features of catatonia and @PHENOTYPICFEATURE$, and were retrospectively diagnosed as having neuroleptic malignant syndrome (@DISEASE$).	has_symptom
+6e623e85a1f0b3928876b6056d957cdad61edee1	Two patients are described who presented with clinical features of catatonia and @PHENOTYPICFEATURE$, and were retrospectively diagnosed as having @DISEASE$ (NMS).	has_symptom
+0ccf3d440410cd529f5accbb9e7d807af854db97	Neuroleptic malignant syndrome (@DISEASE$) is a rare idiosyncratic disorder characterized by muscle rigidity, @PHENOTYPICFEATURE$, autonomic dysfunction, and altered consciousness.	has_symptom
+2e9133e1f03a94157b15a9eab44b23a6db9b9726	@DISEASE$ (NMS) is a rare idiosyncratic disorder characterized by muscle rigidity, @PHENOTYPICFEATURE$, autonomic dysfunction, and altered consciousness.	has_symptom
+516ecd6d62bf9756de2c4cd50801426fb94a1198	@DISEASE$ is characterized by altered consciousness, @PHENOTYPICFEATURE$, extrapyramidal signs and autonomic instability.	has_symptom
+a43b690f3ca2345c50a7cd0c10cf9dd3bc7bed41	While neuroleptic malignant syndrome (NMS) is typically characterised by delirium, motor rigidity, @PHENOTYPICFEATURE$ and dysautonomia, the syndrome is not pathognomonic, and @DISEASE$ remains a diagnosis of exclusion.	has_symptom
+97db591ac48ff24c5d8e45ecc82b160486105fff	While @DISEASE$ (NMS) is typically characterised by delirium, motor rigidity, @PHENOTYPICFEATURE$ and dysautonomia, the syndrome is not pathognomonic, and NMS remains a diagnosis of exclusion.	has_symptom
+1663d66b58ece84e14c286f4024438e72c04887c	While neuroleptic malignant syndrome (@DISEASE$) is typically characterised by delirium, motor rigidity, @PHENOTYPICFEATURE$ and dysautonomia, the syndrome is not pathognomonic, and NMS remains a diagnosis of exclusion.	has_symptom
+9e4facfbd138bcfb0d55065bce11841f16add109	@DISEASE$ (NMS) is a rare condition clinically characterized by muscle rigidity, @PHENOTYPICFEATURE$, autonomic instability, and acute mental status change.	has_symptom
+6f485ae42c5f430a3f6165090d4c58cb4daedc41	Neuroleptic Malignant Syndrome (@DISEASE$) is a rare condition clinically characterized by muscle rigidity, @PHENOTYPICFEATURE$, autonomic instability, and acute mental status change.	has_symptom
+77784c03e74b59ebb7d8536773eeb79258664556	Mutations in the X-linked intellectual disability gene (XLID) CASK is one etiology associated with @PHENOTYPICFEATURE$ which produces @DISEASE$ (MICPCH; OMIM# 300749).	has_symptom
+ea6a2436dcd198c9adfd048a404cb90339c673e8	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @PHENOTYPICFEATURE$, and disproportionate pontine and cerebellar hypoplasia.	has_symptom
+6cfb2ba0c8820b190e39bb0074b76da907eec49b	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @DISEASE$, and disproportionate pontine and @PHENOTYPICFEATURE$.	false
+53de24523b288e9ff07eaf12e627789d87a9c8c2	MICrocephaly, disproportionate pontine and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+12d241185714e98a306b842fb4f3e34d3bdc3220	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) @DISEASE$, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and @PHENOTYPICFEATURE$.	false
+329c2517a2f5fb959c987fbb1231d93f8a3bdfac	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and @PHENOTYPICFEATURE$.	false
+70984294746e8b4e493a47d719fb91e16bb66868	MICrocephaly, disproportionate pontine and @PHENOTYPICFEATURE$ (MICPCH) @DISEASE$, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+6328c74bec598070b74ed0eb39580b6d65ccef01	MICrocephaly, disproportionate pontine and @PHENOTYPICFEATURE$ (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @DISEASE$, and disproportionate pontine and cerebellar hypoplasia.	false
+5131085dfea7c5b8a6e2f5adfb93fd93df11c2b0	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+cea571e2085693918b922ce803312171f69e719c	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and disproportionate pontine and cerebellar hypoplasia.	false
+833c4916a47e7f7a3e26c80fbcac2799d3989daa	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) @DISEASE$, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+de27b4eedecf2a977fd04cc41635f028a75e28ab	@DISEASE$, a recessively inherited disorder, causes variable-but most often severe-mental retardation, frequently accompanied by epilepsy and/or @PHENOTYPICFEATURE$.	has_symptom
+2dcfb8c129a8cdceac2309159fd815f6b9da27b4	@DISEASE$, a recessively inherited disorder, causes variable-but most often @PHENOTYPICFEATURE$, frequently accompanied by epilepsy and/or autism.	false
+b88dfb9a4cee6b10b04e969d10244f81997960af	ADSL deficiency, a recessively inherited disorder, causes variable-but most often @PHENOTYPICFEATURE$, frequently accompanied by epilepsy and/or @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c47c25ef84cd6c0460aaa6b1adace744a5fba2a3	This paper describes several genetic diseases consistently associated with @PHENOTYPICFEATURE$ (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, @DISEASE$, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them.	has_symptom
+0f668b7ad3d8864a90cea32c21819cb5fae470e8	Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X @PHENOTYPICFEATURE$ (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the ?-glucocerebrosidase (GBA) gene and @DISEASE$ due to LYST gene mutations.	has_symptom
+1b23aa5a12b48fc9033411a97ad15831a1387f3a	@PHENOTYPICFEATURE$ and haemostatic surgical outcomes in 142 patients with @DISEASE$.	has_symptom
+6355e1fca3c63dea7570e9a4f085abace19bc73b	In this report we discuss a South African family in which four members have a phenotype resembling @DISEASE$. Ocular problems and @PHENOTYPICFEATURE$ predominate, while skeletal changes resemble those of a mild form of multiple epiphyseal dysplasia (MED).	has_symptom
+9bc2e5e67733aed094d008d8c73c62b65c5cb2b8	@DISEASE$ (ACC) is a rare and @PHENOTYPICFEATURE$ tumor.	false
+89813d5999b2bf0555cb0e73dfa68074de83b834	@DISEASE$ (ACC) is a rare and aggressive @PHENOTYPICFEATURE$.	false
+57a95c273146395336c1eb6584e7c364b84f09c5	Mutations in the RNA-binding protein, RBM10, result in a human syndromic form of @PHENOTYPICFEATURE$, termed @DISEASE$.	has_symptom
+edb20088fea7e44d117c1401a427aa8551f80eb9	@DISEASE$, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	has_symptom
+e6917f8a56f10853915f96ff7538a414a92dde11	TARP syndrome, comprising @PHENOTYPICFEATURE$, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and @DISEASE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+a4cb173f9343fc26272d7b63e569051199e249ed	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and @DISEASE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+aa9634e2ff5a0f3ee1d4a4e05e3c78d613fa09f3	TARP syndrome, comprising @PHENOTYPICFEATURE$, atrial septal defect (@DISEASE$), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+cd785e0d895ad76d7ed5719adf509793709350b8	@DISEASE$, comprising @PHENOTYPICFEATURE$, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+cd96d1adae6d1313e16835b8bdf5654749cdb508	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (@DISEASE$), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+9a6435e8af5b94fd612a62bba6fad9410a5ad2ee	@DISEASE$, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+b9e924c8a93d9f4d4d88e7bf8fc4652edca2a645	Estimate of severe @DISEASE$ (LGMD2C, LGMD2D) among sporadic @PHENOTYPICFEATURE$ males: a study of 415 familes.	has_symptom
+712ebb3420056eeb57dbe9a6bb9e69d6f6012ba8	@DISEASE$ (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability, classified phenotypically into two main groups, the most severe forms (Duchenne-like muscular dystrophy, DLMD, or severe childhood autosomal recessive @PHENOTYPICFEATURE$, SCARMD) and the milder forms.	has_symptom
+4b3013f8d41c0cd86cf86109aa89c1da39d90a00	The @DISEASE$ (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as @PHENOTYPICFEATURE$/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects.	has_symptom
+2140736f27f5db7a4e26c620b58725a120782866	The @DISEASE$ (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor @PHENOTYPICFEATURE$, clubfeet and first and 5 ray defects.	false
+e5862a499d61e04aeef6852b10c09b1b02e70e19	The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive @DISEASE$ caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor @PHENOTYPICFEATURE$, clubfeet and first and 5 ray defects.	false
+9da2cd899c009d71c7caa1ff42118e6106cb7ef3	The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as @DISEASE$/Robin Sequence, microstomia, absence of mandibular central incisors, minor @PHENOTYPICFEATURE$, clubfeet and first and 5 ray defects.	false
+ab7758dcf8cf513c815d5e4c74127cf6f1b77d52	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, @DISEASE$, @PHENOTYPICFEATURE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	has_symptom
+93d3a0925764804847d5b42bfd7f9c7ba7d2597d	The clinical picture in the two patients described, characterized by @PHENOTYPICFEATURE$, dwarfism, microcephaly, alopecia, @DISEASE$, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+2495549c8af5346dff7ea85951865bd7adaaafdb	The clinical picture in the two patients described, characterized by @PHENOTYPICFEATURE$, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, @DISEASE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+2a0d98cbf865534bc78e8dae84a6224ae2da10b7	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, @PHENOTYPICFEATURE$, alopecia, bullous dystrophy macular type, @DISEASE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+331572d8ecca8dbd325d310197be9672a20ff109	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, @PHENOTYPICFEATURE$, alopecia, @DISEASE$, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+ad5d0ba228488fbb0707796e5ea820ee08d5edd2	The @DISEASE$ is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and @PHENOTYPICFEATURE$.	has_symptom
+6f163ad77e5a397851c760c10350b39f618453bf	The @DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot.	false
+9c4295b20bc9295c9678300d3cf155bb09e20cad	The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, Robin sequence, cleft mandible, pre/postaxial anomalies and @DISEASE$.	false
+97652a000b92106a0f8a649f6760a3dc9f2a477f	Additionally, KCNJ10 was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic SLC26A4 mutations, 48 patients with @DISEASE$ due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA), 96 patients with @PHENOTYPICFEATURE$ due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss.	has_symptom
+b5bc21c9667c4676abafc1f72b5603138d882372	In this article we describe the typical signs like severe recurrent bacterial infections, @PHENOTYPICFEATURE$, @DISEASE$ and neurologic symptoms as developmental delay, loss of previous acquired skills and progressive motor abnormalities.	has_symptom
+05eae828410a21b3afe59c49fe499aeb02b45d92	Their predominant clinical problems included @DISEASE$, candidiasis, recurrent bacterial infections, @PHENOTYPICFEATURE$, and lymphadenopathy.	has_symptom
+e8632c9116e4cdf1418ff2228c3db4c7b998a11a	We report an early onset @DISEASE$-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, @PHENOTYPICFEATURE$, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	has_symptom
+71377295505b70c464442d35962482f498558af0	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity @PHENOTYPICFEATURE$, peripheral neuropathy, ptosis, oculomotor apraxia, @DISEASE$, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+a055bb0400028bbda679726e8d6129de0ca2b3c0	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and @DISEASE$.	false
+ef5524f7f19d8c38979363d3913b38ea4a135f5d	We report an early onset spastic ataxia-neuropathy @DISEASE$ in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+f591db3ea847c066b565df94586403d4da81f10b	We report an early onset spastic ataxia-@DISEASE$ syndrome in two brothers of a consanguineous family characterized clinically by lower extremity @PHENOTYPICFEATURE$, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+adc2c01697f0ffb03d6d0acd341de0d7478215ac	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity @PHENOTYPICFEATURE$, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and @DISEASE$.	false
+0a8a929141f8e2cbf5dfa41b6b62703dce1f3e0b	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, @DISEASE$, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+55634c5076cb6b34f37003c3ee5b452c2b368dbe	We report an early onset spastic ataxia-@DISEASE$ syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+358337c7767a4bf69bd912ebee5f22276df88be2	We report an early onset spastic ataxia-@DISEASE$ syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+90e330f5cce7f64aec7a045487ac0aa61d527121	We report an early onset @DISEASE$-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+d6bee0be9ebdf56d9a10176878bd40f6754f3b7a	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and @DISEASE$.	false
+2be09b8165948e911465a07b22e7aa64409a8c1a	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity @PHENOTYPICFEATURE$, peripheral neuropathy, @DISEASE$, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+4abb3258a31586fae7769927ca3ba8ddab845d96	We report an early onset spastic ataxia-neuropathy @DISEASE$ in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+f2bd0b64732a1f6a1f43c8d406a199ebd9099764	We report an early onset @DISEASE$-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity @PHENOTYPICFEATURE$, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+1358216bc0d60d488561a89775c94a9f8a20433e	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, @DISEASE$, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+095f405b805e3c116ae7132f0ccd31c5ba899f60	We report an early onset @DISEASE$-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+1d8d35df1a6f2f40f156a3e24adb9fa73ada3a4a	We report an early onset spastic ataxia-neuropathy @DISEASE$ in two brothers of a consanguineous family characterized clinically by lower extremity @PHENOTYPICFEATURE$, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+794dc6d5ddde321b5931fb701a0649d8266d8e45	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, @DISEASE$, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+49b59169fb2a1a737997b0dbfbfe7179c79cf9b3	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, @DISEASE$, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+13603c1f56a39a66c1c7a6cd5a56ac04a7b226b0	The clinical phenotype typically developed in mid-adult life with either progressive external ophthalmoplegia/@PHENOTYPICFEATURE$ and @DISEASE$, or a progressive ataxic disorder.	has_symptom
+24738914330ef49816c8dbe5682600be269542a8	Oral manifestations commonly observed in @DISEASE$ may comprise cleft lip/palate, bifid tongue and uvula, malocclusion, and @PHENOTYPICFEATURE$.	has_symptom
+24e24c3eaffdf36dce9b1dc0e8ef361c28f755ca	Neonatal @PHENOTYPICFEATURE$ episodes and hyperekplexia-like presentation at onset in a child with SCN8A @DISEASE$.	has_symptom
+0305844033ff313238e9c5ad6d97a857e5847e69	Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of @PHENOTYPICFEATURE$, ten of posterior fossa cyst and cerebellar vermian hypoplasia, three of rhombencephalosynapsis, two of @DISEASE$ and two cases of isolated cerebellar dysplasia were identified.	has_symptom
+ee360435b8e37be6f475b86031e979db2b6bdeab	Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of @DISEASE$, ten of posterior fossa cyst and @PHENOTYPICFEATURE$, three of rhombencephalosynapsis, two of Fukuyama congenital muscular dystrophy and two cases of isolated cerebellar dysplasia were identified.	false
+71d52a2601200a29fedf01261ade340e479938ed	Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of cerebellar hypoplasia, ten of posterior fossa cyst and @PHENOTYPICFEATURE$, three of rhombencephalosynapsis, two of @DISEASE$ and two cases of isolated cerebellar dysplasia were identified.	false
+3baf2cc2f7fa83aac7ae3c0a93ac9e8514ed3fee	Nitric acid (NO) has recently been implicated in the mechanisms of @PHENOTYPICFEATURE$ activity and neurodegeneration, which are both very active in the @DISEASE$.	has_symptom
+57c7c237bcc1a518c5384117e00e88864704efa1	@DISEASE$ syndrome is a recently described rare disorder of infantile regression, intractable @PHENOTYPICFEATURE$, and cerebellar atrophy that occurs almost exclusively in the Finnish population.	has_symptom
+6bdb6742096bf56a1ccc7134cd5ec4548481788e	Ultrasonographic examination disclosed a dome shaped @PHENOTYPICFEATURE$ with homogeneous structure, low reflectivity and signs ofvascularity, suggesting @DISEASE$.	false
+e4f58959aa4452e0f25a230268460f816eaebe5f	We present the outcome of @PHENOTYPICFEATURE$ surgery in a retrospective chart review of 3 eyes in 2 patients with @DISEASE$.	has_symptom
+09c30c531d6a2094b5a52c484f0795a605d633c2	To assess the outcome of @PHENOTYPICFEATURE$ surgery in patients with chronic sequelae of Stevens-Johnson syndrome (@DISEASE$).	has_symptom
+5d722cba3967434e3621b09f7a06e47afd5859c4	Cataract surgery can be safely performed in patients with Stevens-Johnson syndrome (@DISEASE$) with visually significant @PHENOTYPICFEATURE$.	has_symptom
+b439122d42e7223c491706ecc70e85615f4e460f	One was a 20-year-old woman with @DISEASE$ and multiple aphthous stomatitis, bronchial asthma, an emphysematous lung, a ventricular septal defect and a bilateral @PHENOTYPICFEATURE$ due to hyperextensibility and joint hypermobility.	has_symptom
+d056b55566157be7794ebe21de1986d1889e6229	Since @DISEASE$ patients exhibit @PHENOTYPICFEATURE$, neuronal deafness, rigidity, dysphagia, and laryngeal dystonia, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	has_symptom
+7dcf97110f4e9ecd68065069c50f49094641208c	Since XPA patients exhibit peripheral neuropathy, neuronal @PHENOTYPICFEATURE$, rigidity, dysphagia, and @DISEASE$, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	false
+3a6422e7440ea508c00f2e0a129358315457d38a	Since @DISEASE$ patients exhibit peripheral neuropathy, neuronal @PHENOTYPICFEATURE$, rigidity, dysphagia, and laryngeal dystonia, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	false
+7aa57040a14d56cc039bc90bb1cc4676eeff4407	Since XPA patients exhibit @DISEASE$, neuronal @PHENOTYPICFEATURE$, rigidity, dysphagia, and laryngeal dystonia, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	false
+7d9acf490c78b17da0d76b3f2f5c8746c0091e5d	A 20-year-old woman with Gardner syndrome and intra-abdominal @DISEASE$ presented with increasing @PHENOTYPICFEATURE$.	has_symptom
+355f34c25e148c7c2df67dcf549b49bf7bbab4e3	All gastrointestinal symptoms seen in GS are associated with the underlying familial adenomatosis polyposis and abdominal @DISEASE$, with the most common symptoms being anemia, lower gastrointestinal bleeding, @PHENOTYPICFEATURE$, diarrhea, obstruction, and mucous defecation.	has_symptom
+6dbc73ecfef6caeaff6fda0ccd922b18c7414279	While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and @PHENOTYPICFEATURE$) and damage to the Central Nervous System are described in some subtypes of CMD (@DISEASE$, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known.	has_symptom
+ca7244738c498dde6703175fb2ed6c9fc4f38e67	While ocular malformations (@PHENOTYPICFEATURE$, alterations of the anterior chamber, of the retina, or of the angle and @DISEASE$) and damage to the Central Nervous System are described in some subtypes of CMD (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known.	false
+661f23483fcb801420b645ed49438f5972b7fc60	While ocular malformations (@PHENOTYPICFEATURE$, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of @DISEASE$ (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known.	false
+3c9a470b0fac6631767cf0773f4661fa4966688b	While ocular malformations (@PHENOTYPICFEATURE$, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of CMD (@DISEASE$, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known.	false
+e569ddb9f268c89614b37537f46b51a3d6ba241c	Children with @DISEASE$ were divided into Group A with hydrocephalus alone and Group B @PHENOTYPICFEATURE$ with spina bifida.	has_symptom
+e487c8d9ce18cc19db24980df8d18a05f75b0f06	Children with @DISEASE$ were divided into Group A with @PHENOTYPICFEATURE$ alone and Group B hydrocephalus with spina bifida.	has_symptom
+cb1cc5fb6c9521b31477a6eda4bf45535cb5e8b3	Children with @DISEASE$ were divided into Group A with hydrocephalus alone and Group B hydrocephalus with @PHENOTYPICFEATURE$.	false
+45b3bc0c0e1a8384bd54877bdd8372bae9f657d6	Children with congenital hydrocephalus were divided into Group A with hydrocephalus alone and Group B @DISEASE$ with @PHENOTYPICFEATURE$.	false
+9b4576be174a1cc22ab7c2f7a0f3708edb8b6dd2	Children with congenital hydrocephalus were divided into Group A with @DISEASE$ alone and Group B hydrocephalus with @PHENOTYPICFEATURE$.	false
+46cb040881667e1cb7cfd1cd1b23866e46935f85	@PHENOTYPICFEATURE$ was associated with myelomeningocele in 17 patients and posthemorrhagic, postmeningitic, or @DISEASE$ accounted for the rest.	has_symptom
+aa4464fa62b7eb8ff80d1881d51ac295f0ee80cd	Of these patients with @DISEASE$, 12.1% identified an additional family member also diagnosed with @PHENOTYPICFEATURE$.	has_symptom
+6ba35a46bfea7c601d00986a9b9147dbb4f2053d	Congenital murine @PHENOTYPICFEATURE$ occuring in the Hy-3 strain has certain similarities to human @DISEASE$.	has_symptom
+5b3ee296fc32287184713b9eb3410baf159d43c7	[Congenital @PHENOTYPICFEATURE$--preoperative assessment and intraoperative findings in @DISEASE$].	has_symptom
+d3bda475c9335875c1f315404f670472fa369be9	Of 393 patients of @DISEASE$, 355 (90.3%) had primary hydrocephalus and 28 (7.1%) had secondary @PHENOTYPICFEATURE$.	has_symptom
+51676cf58c046dfee553acb55b832568e2d50e35	Of 393 patients of @DISEASE$, 355 (90.3%) had primary @PHENOTYPICFEATURE$ and 28 (7.1%) had secondary hydrocephalus.	has_symptom
+1807822137b92423417b0af7100760b91b62c590	[The etiology of @DISEASE$ with regard to a case of concordant @PHENOTYPICFEATURE$ in monozygotic twins].	has_symptom
+6c9780d259a36a74a3d73a353f9ded8892544948	The commonest causes of @PHENOTYPICFEATURE$ were meningitis and @DISEASE$.	has_symptom
+0cc77bf30be2e2b4f1367e9591b7496442464ae6	We classified patients with primary @DISEASE$ into two main groups: non-syndromic hydrocephalus (NSH) and syndromic @PHENOTYPICFEATURE$ (SH).	has_symptom
+e65f4493d007959309a06a90dc301132f05f59a2	We classified patients with primary @DISEASE$ into two main groups: non-syndromic @PHENOTYPICFEATURE$ (NSH) and syndromic hydrocephalus (SH).	has_symptom
+c7930df6aba27e1fb84674628128e3652c0e7aa0	The majority of cases of @DISEASE$ were primary hydrocephalus and two thirds were complicated @PHENOTYPICFEATURE$.	has_symptom
+3b426b00f0998e350c585186d96b64311d100fb3	The majority of cases of @DISEASE$ were primary @PHENOTYPICFEATURE$ and two thirds were complicated hydrocephalus.	has_symptom
+d90b4b2ebda54e5b1ab148f21c9e0458f6084636	Polymerase ?1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and @PHENOTYPICFEATURE$ ("@DISEASE$").	has_symptom
+ea8ffb324b6c88991b3327d72635e68a24e5c25c	Polymerase ?1 mutation in a human syndrome with @PHENOTYPICFEATURE$, @DISEASE$, livedo, and short stature ("FILS syndrome").	false
+ff79160dda65de6dceb0302a1a210665c3901ef2	Polymerase ?1 mutation in a human syndrome with @PHENOTYPICFEATURE$, immunodeficiency, livedo, and @DISEASE$ ("FILS syndrome").	false
+6c8db613064b04bf18a6f32a285bfd8fd89e1eef	Polymerase ?1 mutation in a human syndrome with @PHENOTYPICFEATURE$, immunodeficiency, livedo, and short stature ("@DISEASE$").	false
+40a7219687f0aa708153c0019553e9f713ef3bce	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused facial dysmorphism, immunodeficiency, livedo, and @PHENOTYPICFEATURE$ ("@DISEASE$") in a large, consanguineous family.	has_symptom
+47320f6c6cae4a83bbe09abb3d515ba566b2430d	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused @PHENOTYPICFEATURE$, immunodeficiency, livedo, and short stature ("@DISEASE$") in a large, consanguineous family.	false
+c2b4be16b892c240767dbbcb1ec3aa445107fbfd	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused @PHENOTYPICFEATURE$, @DISEASE$, livedo, and short stature ("FILS syndrome") in a large, consanguineous family.	false
+4f573da587e75c666c5038d08abe3abfe3c33afe	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused @PHENOTYPICFEATURE$, immunodeficiency, livedo, and @DISEASE$ ("FILS syndrome") in a large, consanguineous family.	false
+742499f4c07bd3dd3fa06580a5e4dec6d4401992	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by @PHENOTYPICFEATURE$, ataxia, seizures, hearing loss, and renal salt waste.	has_symptom
+7e61e0285fefe5153b3fa6d43c25c107336af216	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by @DISEASE$, @PHENOTYPICFEATURE$, seizures, hearing loss, and renal salt waste.	false
+7535ed82caf214f25a07f66f140a710e01c3c785	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by mental retardation, @PHENOTYPICFEATURE$, seizures, hearing loss, and renal salt waste.	false
+43b1ae703740d684f51fd828851c746e0a9a2c96	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, @PHENOTYPICFEATURE$, seizures, @DISEASE$, and renal salt waste.	false
+693252dbc50723ee10048358d224e685c058a9c6	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, ataxia, @PHENOTYPICFEATURE$, @DISEASE$, and renal salt waste.	false
+994871ed37d87b6ab22e193232ace5a717381fd4	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by @DISEASE$, ataxia, @PHENOTYPICFEATURE$, hearing loss, and renal salt waste.	false
+5c603687f0125cc65f296d42874d3464f9977968	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by mental retardation, ataxia, @PHENOTYPICFEATURE$, hearing loss, and renal salt waste.	false
+3ccfd0667ba38a1ca3d3760decea563178f7a6df	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/@DISEASE$.	has_symptom
+6b49aa176b059cf9590c43c1891cc6f1c809e7ab	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+da8f38d83d3b5013a8ef0d0c53afa9bf8b44da56	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+cd9f70570f3ed2df6687948c8bf02d875a79a4b3	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+17a9c652c769a6e372d42f856a1a20753bd51e58	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+4e964b4b509844ab4c78c2c19260cb3f37e95395	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+63d36155ccda1728d66cd250d41b51cde892543b	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @PHENOTYPICFEATURE$, ataxia, @DISEASE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+ac886c34d3f3c202e09e59035d3fc0d7232d40ef	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+ffa903f2cc4cfdc459c037cc379135b81b972b39	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, @DISEASE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+da3e006d6a780f774c00f1ed410165d01274bb11	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, @DISEASE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+666edb30b4eb39d3f9779a6f2790bab634068e11	Delayed-onset infantile @PHENOTYPICFEATURE$ in a case of @DISEASE$.	has_symptom
+450da629cb0fec346358024be3a8b53cc94688b4	Death was attributed to the complications of @DISEASE$, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, seizures and @PHENOTYPICFEATURE$, caused by mutations in the MECP2 gene on the X chromosome.	has_symptom
+dbbc3da39270e9f2ac9e93a084159e95b4f851f9	Death was attributed to the complications of Rett syndrome, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, @PHENOTYPICFEATURE$ and @DISEASE$, caused by mutations in the MECP2 gene on the X chromosome.	false
+64343ec18ed882785f61fff33709daedfbe67a5b	Death was attributed to the complications of @DISEASE$, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, @PHENOTYPICFEATURE$ and growth failure, caused by mutations in the MECP2 gene on the X chromosome.	false
+6f550df28d348232d8ad534f040da972fba5fd7f	Most cases of @DISEASE$ (RTT) are caused by mutations in methyl CpG binding protein 2 (MECP2), and individuals with RTT have somatic @PHENOTYPICFEATURE$, growth arrest of brain, epilepsy, and intellectual disability (ID).	has_symptom
+19edb1d67984733c6c5c6a2a363d952b31b5b756	Most cases of @DISEASE$ (RTT) are caused by mutations in methyl CpG binding protein 2 (MECP2), and individuals with RTT have somatic growth failure, growth arrest of brain, epilepsy, and @PHENOTYPICFEATURE$ (ID).	false
+2eeced2c5ac61573b1bb9b5fda459e80807e9958	Most cases of Rett syndrome (RTT) are caused by mutations in methyl CpG binding protein 2 (MECP2), and individuals with RTT have somatic @DISEASE$, growth arrest of brain, epilepsy, and @PHENOTYPICFEATURE$ (ID).	false
+8a673248589bca2920de1a56d77d8eaa14b6746f	Type II Rothmund-Thomson syndrome (Type II @DISEASE$) is a rare autosomal recessive genetic disorder characterized by a congenital @PHENOTYPICFEATURE$, birth defects of the skeleton, genomic instability and cancer predisposition.	has_symptom
+fef70f941066f8fd88729b09ab0b8b722b1b0782	Type II @DISEASE$ (Type II RTS) is a rare autosomal recessive genetic disorder characterized by a congenital @PHENOTYPICFEATURE$, birth defects of the skeleton, genomic instability and cancer predisposition.	has_symptom
+a0f849f96fc1ca5e7aab539d7956a2fb33fd89b5	Ferritin crystal @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+5b5da690c73438d7cbb3b96c575f7913acc2c1a6	@DISEASE$ can be associated with distinct breadcrumb-like @PHENOTYPICFEATURE$.	has_symptom
+5be3b81075f1e012875c173526ac7d2db0e74de7	The hereditary hyperferritinemia cataract syndrome (@DISEASE$) is an autosomal dominant disorder characterized by high serum ferritin and early onset @PHENOTYPICFEATURE$.	has_symptom
+2d76232c279ed825423df4464add67ff6628c5c3	The @DISEASE$ (HHCS) is an autosomal dominant disorder characterized by high serum ferritin and early onset @PHENOTYPICFEATURE$.	has_symptom
+5071de0aff92fd9e8ec0683b5aab3f94b0c3ed83	Age-dependent ocular phenotype in hereditary hyperferritinaemia @PHENOTYPICFEATURE$ syndrome (@DISEASE$).	has_symptom
+78b8263b91f6b518b07616b27cf251872f36804a	Hereditary hyperferritinemia cataract syndrome (@DISEASE$) is characterized by distinctive @PHENOTYPICFEATURE$ and high serum ferritin in the absence of iron overload.	has_symptom
+5da10a15808cc333d16c87d5b63f669fe4303861	@DISEASE$ (HHCS) is characterized by distinctive @PHENOTYPICFEATURE$ and high serum ferritin in the absence of iron overload.	has_symptom
+16e19e76d5589f6ab528642dbf3af88fc103e56b	@DISEASE$ (HHCS) is a recently recognized syndrome characterized by dominantly inherited, early-onset @PHENOTYPICFEATURE$ and elevated serum ferritin.	has_symptom
+89ac93b0074efa999093936771230c1b179c43df	Hereditary hyperferritinemia-cataract syndrome (@DISEASE$) is a recently recognized syndrome characterized by dominantly inherited, early-onset @PHENOTYPICFEATURE$ and elevated serum ferritin.	has_symptom
+45b1c1dabf007af93593dc521d25ddae8ac9bed0	Hereditary hyperferritinemia-cataract syndrome (@DISEASE$) is a novel genetic disorder characterized by elevated serum ferritin and early onset @PHENOTYPICFEATURE$ formation.	has_symptom
+f94ac8287db8e48f9d7aeacad769e975e31bc185	@DISEASE$ (HHCS) is a novel genetic disorder characterized by elevated serum ferritin and early onset @PHENOTYPICFEATURE$ formation.	has_symptom
+99af743e6cdeaba6ba975699f13e984fd5b5c39d	He had a familial @PHENOTYPICFEATURE$ as an infant, but @DISEASE$ was excluded.	has_symptom
+e125eae066ee71ff2bafd318f84bdd94a750c2fc	Among the causes of hyperferritinemia, hereditary hyperferritinemia cataract syndrome (@DISEASE$) is an autosomal dominant disease characterized by distinctive @PHENOTYPICFEATURE$ and high serum ferritin.	has_symptom
+f92f20636596735508526caa6e474a3034829e44	Among the causes of hyperferritinemia, @DISEASE$ (HHCS) is an autosomal dominant disease characterized by distinctive @PHENOTYPICFEATURE$ and high serum ferritin.	has_symptom
+c0cad4b711d6f3da1bdc736e45b01b6d19f7804b	The hereditary hyperferritinemia cataract syndrome (@DISEASE$) is an autosomal dominant disorder characterized by juvenile-onset @PHENOTYPICFEATURE$ and elevated serum ferritin levels.	has_symptom
+72cbc57a787084ce883a76754d2f10d927cb2ece	The @DISEASE$ (HHCS) is an autosomal dominant disorder characterized by juvenile-onset @PHENOTYPICFEATURE$ and elevated serum ferritin levels.	has_symptom
+f3834da3392caa413e385b79237608402dcc42e6	We present a case of @DISEASE$ in a mother and her son, who were diagnosed with @PHENOTYPICFEATURE$, macrocephaly and goitre.	has_symptom
+89613f6170e76ab62ce5799b98283f4ff9ccf5ff	We present a case of @DISEASE$ in a mother and her son, who were diagnosed with palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$ and goitre.	false
+78e2cb2b501100bae04f8080f09f1f9507e5e87b	We present a case of Cowden syndrome in a mother and her son, who were diagnosed with palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+00a47fd95af06c445a7a031583ca14375a8f6485	We present a case of Cowden syndrome in a mother and her son, who were diagnosed with @DISEASE$, @PHENOTYPICFEATURE$ and goitre.	false
+d63855ce31d0b971e8ede6379025000b24c0144f	@DISEASE$ is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, @PHENOTYPICFEATURE$, profound developmental delay, and acquired microcephaly.	has_symptom
+1dcec759f29ea64c71d3831d7009b02dc9edf99f	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, @DISEASE$, profound developmental delay, and acquired microcephaly.	false
+4818f215006348063fb552bdb4ccb5689b339df0	@DISEASE$ is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+9a513ad9700af8342da92799381be0981b172a75	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, @DISEASE$, profound developmental delay, and acquired microcephaly.	false
+c4e6f49e3e0738bdb042ed6b92a0c9e7a3684d09	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+0a5f1ce440d412e6b68c9c4c8b726d4e0a162368	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+a17c9e7dc995548fd56cb9522a0e291c1975b329	Vici syndrome is a multisystem disorder characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, @DISEASE$, profound developmental delay, and acquired microcephaly.	false
+2980ca8aa4aa6ccf7b4d4c38b7568b7b32e8733b	Vici syndrome is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+7caf8ba9effba6f6cda221b2773295ad55969f5a	Vici syndrome is a multisystem disorder characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, @DISEASE$, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+d4f3ef8bce0a6f8e2b425f1291e16d06e0eb3950	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired @DISEASE$.	false
+3e37b2dc7b2260a7b688a7c6a7b7720ae591d612	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+947ad557c7e2d762fdcc0809e912cc8ad222950a	@DISEASE$ is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+c0965672b6749279b2373ccfe0c76e33e2a23e83	@DISEASE$ is a multisystem disorder characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+c9d746617c71b90f71bd2f7b1abb3ad803391ae0	Vici syndrome is a multisystem disorder characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired @DISEASE$.	false
+bf8696bc15df04b84f50b64d7db89e4900a873ea	Vici syndrome is a multisystem disorder characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, @DISEASE$, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+abe5464074c8ebaf54b7638c2292cb075f321cd0	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+a908dba2a50666ce5ee2f81689762be40c43f8cc	Vici syndrome is a @DISEASE$ characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+67dfc6ce590f7844e50c16b40bb3dbc9cd18910d	Vici syndrome is a @DISEASE$ characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+7982e608bf6dfa279de09008563150ea4cb5016b	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired @DISEASE$.	false
+4bf271200ca6deedd92c60a2f035c69e7ebeaf0a	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @PHENOTYPICFEATURE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	has_symptom
+c67e015d7b03b93f837c3939707074867c4697f2	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+853d3c480938d8c7fc9680497f95ddf498c1cfd7	Liddle's syndrome or pseudoaldosteronism is a rare @DISEASE$ mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+4016a4b48ef8f99092a1d19af9ed0ca74a2dfb9d	Liddle's syndrome or pseudoaldosteronism is a rare @DISEASE$ mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+b2aeb4c36732565d287c65e5846cb0b67eacd6ab	Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @DISEASE$ and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+8793d4d63b0601b2c1396d2bfc9d0b4039478006	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+4e856c330e32cf963a6d3b0fbe58c8a1f8b0a6dc	Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, @DISEASE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+5691b0c04d50de9c2c1708e5c0169a08fc841459	@DISEASE$, a rare cause of @PHENOTYPICFEATURE$ hypertension, is characterized by a renal tubular sodium channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	has_symptom
+a4f08976948230d9c5808308535b91edb19ede69	Liddle's syndrome, a rare cause of hypokalemic @PHENOTYPICFEATURE$, is characterized by a renal tubular @DISEASE$ channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+240481258a60e8beedb7119319f2c8a103b57a2d	@DISEASE$, a rare cause of hypokalemic @PHENOTYPICFEATURE$, is characterized by a renal tubular sodium channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+8d334bdb29bc1e3f733e2ea4b59a5e9c96e70c9e	Liddle's syndrome, a rare cause of @DISEASE$ @PHENOTYPICFEATURE$, is characterized by a renal tubular sodium channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+bfa72cbe5ae9df3576b1e5e3470046bd2d7e5c2d	With regard to K excretion, however, both systems work in opposite directions whereby PHAII and @DISEASE$ show hyperkalemia and @PHENOTYPICFEATURE$, respectively.	has_symptom
+411c14afe61b23d370521303da068606f89ba64f	With regard to K excretion, however, both systems work in opposite directions whereby PHAII and Liddle syndrome show @PHENOTYPICFEATURE$ and @DISEASE$, respectively.	false
+162225d28d7a9fea192f4fcff010f4b494e8c0b0	With regard to K excretion, however, both systems work in opposite directions whereby PHAII and @DISEASE$ show @PHENOTYPICFEATURE$ and hypokalemia, respectively.	false
+ee10defb52ea2856b995899d0991e219f011b17d	@DISEASE$ (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and @PHENOTYPICFEATURE$.	has_symptom
+fb0c90e8db4130215cd47783f00dd90455c1e961	Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset @PHENOTYPICFEATURE$ and @DISEASE$.	false
+94dfe7f21a21b6ad32c56871cfcaba7638154876	@DISEASE$ (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset @PHENOTYPICFEATURE$ and hypokalemia.	false
+ad0854c6c0cc3e7761084434e082c5938aad98e3	@DISEASE$ (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young @PHENOTYPICFEATURE$ hypertensives.	has_symptom
+d695f9350edf52b2b8f16cf8a11a3853bd68905b	Liddle's syndrome (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young @DISEASE$ @PHENOTYPICFEATURE$.	false
+31fb46fdf1534c7d4df380f962ebc3287941f519	@DISEASE$ (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young hypokalemic @PHENOTYPICFEATURE$.	false
+d3ed6c2e94b6f633fd5e252623c3efeb320c0604	All reported mutations in @DISEASE$ are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and @PHENOTYPICFEATURE$ are caused.	has_symptom
+38b9ade0708bfdeeff758cf004b0dd2b3b82ccbf	All reported mutations in @DISEASE$ are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus @PHENOTYPICFEATURE$ and hypokalemia are caused.	false
+20d90faaa2f5418b6b6281eaecc64a1956869f50	All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus @PHENOTYPICFEATURE$ and @DISEASE$ are caused.	false
+b147f9d44759e28d7838848751335746257055e2	@DISEASE$ is a rare genetic syndrome characterised by bilateral hyperphalangism, bronchomalacia, hallux valgus, and other facial dysmorphism including large anterior fontanelle, @PHENOTYPICFEATURE$, and anteverted nostrils.	has_symptom
+af0d8a8c05f14ca522250aa6fa7f489ac2231010	In addition, FGF23 has been proved to be involved in most cases of @DISEASE$ and X-linked hypophosphatemic rickets that are also characterized by @PHENOTYPICFEATURE$ and normocalcemia.	has_symptom
+303a18e11f22aab5054547412e60a7e31383ae43	Tumor-induced osteomalacia (TIO), or @DISEASE$ (OOM), is a rare acquired paraneoplastic disease characterized by renal phosphate wasting and @PHENOTYPICFEATURE$.	has_symptom
+128de77c04629b1187364f07f955c33888646c0a	Tumour-induced osteomalacia (TIO), or @DISEASE$, is a paraneoplastic syndrome marked by @PHENOTYPICFEATURE$, renal phosphate wasting, bone pain, weakness, and fractures.	has_symptom
+d077eea859007f4355a47522dc3ba7b6c6e9926e	Tumor-induced osteomalacia, also known as @DISEASE$, is a rare, acquired paraneoplastic disease characterized by @PHENOTYPICFEATURE$ and renal phosphate wasting.	has_symptom
+edfa185f3441c5b68ab2dc3552bacc63ee0ed0d0	@DISEASE$ is a rare paraneoplastic metabolic syndrome that is characterised by severe @PHENOTYPICFEATURE$, hyperphosphaturia and osteomalacia secondary to renal loss of phosphate.	has_symptom
+c8f0ce0f65c10eba3cfd28ec86957b9f60de4bb2	@DISEASE$ (TIO) is a rare acquired paraneoplastic disease characterized by renal phosphate wasting and @PHENOTYPICFEATURE$.	has_symptom
+abafaea86256f1ca96e300e7ed65fddbab86a223	@DISEASE$ is a rare paraneoplastic syndrome characterized by renal phosphate excretion, @PHENOTYPICFEATURE$, and osteomalacia.	has_symptom
+3114373394651144664583cddaacd89357a52ef8	@DISEASE$ (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, @PHENOTYPICFEATURE$, and osteomalacia.	has_symptom
+454a5e82328c3e61768ce51ffd8f3d3a6bb0a747	@DISEASE$ is a rare clinical entity characterized by @PHENOTYPICFEATURE$, phosphaturia, and a low concentration of 1,25-dihydroxyvitamin D(3) caused by a neoplasm.	has_symptom
+8485e74ff71f2b5e33432744072aebf6c1f047fb	Oncogenic or @DISEASE$-rickets is a syndrome characterized by @PHENOTYPICFEATURE$, renal phosphate wasting, and decreased serum 1,25-dihydroxyvitamin D3 levels.	has_symptom
+6abb5980eda0ecf3da90b6eb3a136bfc0f8e48aa	wrn-1(RNAi) phenotypes similar to those of Werner syndrome, such as premature aging and @PHENOTYPICFEATURE$, suggest wrn-1-deficient C. elegans as a useful model organism for @DISEASE$.	has_symptom
+449e799f874f86fae7682ef8dbf7df612f7e0566	wrn-1(RNAi) phenotypes similar to those of @DISEASE$, such as premature aging and @PHENOTYPICFEATURE$, suggest wrn-1-deficient C. elegans as a useful model organism for Werner syndrome.	has_symptom
+6f56a9fa316ef15cfc9c0d7dba51e3b369ec9a1b	@DISEASE$ (WS) is a pleiotropic disease of premature aging involving @PHENOTYPICFEATURE$, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset cataracts.	has_symptom
+602a63afe3e85c28974a6def6b4d6e8dbe6c2df3	Werner syndrome (WS) is a pleiotropic disease of premature aging involving @DISEASE$, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset @PHENOTYPICFEATURE$.	false
+dc3244219f47a7c0a7412ffa6f47d5ae6473ca43	@DISEASE$ (WS) is a pleiotropic disease of premature aging involving short stature, tight, atrophied, and/or ulcerated skin; a characteristic 'birdlike' facies and high, squeaky or hoarse voice; premature greying and thinning of the hair; and early onset @PHENOTYPICFEATURE$.	false
+6d1443c29bedc6b9d19556d46b4252645cc545d6	@DISEASE$ (adult progeria) is a rare autosomal recessive condition characterized mainly by a characteristic habitus (@PHENOTYPICFEATURE$, light body weight) scleroderma like changes of the limbs and premature aging.	has_symptom
+6a0091e0acc0b2bcbb6654a95a04985ff7a20332	The diagnosis of @DISEASE$ was made because the patient had such clinical features as bird-like or "masked" face, @PHENOTYPICFEATURE$, graying of the hair in youth, cataracts in youth, skin changes like scleroderma principally on limbs, early menopause.	has_symptom
+42a8c694abc0adffab113ac74748628366406338	The diagnosis of @DISEASE$ was made because the patient had such clinical features as bird-like or "masked" face, short stature, graying of the hair in youth, @PHENOTYPICFEATURE$ in youth, skin changes like scleroderma principally on limbs, early menopause.	false
+9f4243700e73b6e7a17f398b0d69dfef589db919	The diagnosis of Werner's syndrome was made because the patient had such clinical features as bird-like or "masked" face, @DISEASE$, graying of the hair in youth, @PHENOTYPICFEATURE$ in youth, skin changes like scleroderma principally on limbs, early menopause.	false
+0d74cf3443af35a386a1ab8b1ad29309f4a93a93	The diagnosis of Werner's syndrome was made because the patient had such clinical features as bird-like or "masked" face, @DISEASE$, graying of the hair in youth, cataracts in youth, skin changes like @PHENOTYPICFEATURE$ principally on limbs, early menopause.	false
+2d9fa1c194107641c6fb44a0011448dbc3e28fa5	The diagnosis of @DISEASE$ was made because the patient had such clinical features as bird-like or "masked" face, short stature, graying of the hair in youth, cataracts in youth, skin changes like @PHENOTYPICFEATURE$ principally on limbs, early menopause.	false
+67046d44b4163ce653c17023426a4bcaf56b9fd0	@DISEASE$ is a rare autosomal recessive disorder characterized by clinical signs of premature aging, @PHENOTYPICFEATURE$, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies.	has_symptom
+3308cb12a803e60a25365f1128823967fad59cab	@DISEASE$ is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, @PHENOTYPICFEATURE$, and an increased incidence of malignancies.	false
+7b9ef64b074347d3912b8489014d4029a39e31a1	Werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, @DISEASE$, scleroderma-like skin changes, endocrine abnormalities, @PHENOTYPICFEATURE$, and an increased incidence of malignancies.	false
+5e26fd75705184bec3bfc6e6d2a9ae310825154a	She displayed typical features of @DISEASE$ including juvenile cataract, @PHENOTYPICFEATURE$ and low weight, a bird-like face, a hoarse voice, and dry, atrophic, pigmented skin.	has_symptom
+bac4e9c002ef80ea86bc03b8b7321af8d07ba381	The neurological manifestations in three patients with cardinal features of @DISEASE$, including @PHENOTYPICFEATURE$, premature greying and baldness, thin arms and legs, cataracts and scleroderma-like skin changes, are presented.	has_symptom
+64fe0201566cd4507bd38fb99550390945a78213	The neurological manifestations in three patients with cardinal features of Werner's syndrome, including @DISEASE$, premature greying and baldness, thin arms and legs, @PHENOTYPICFEATURE$ and scleroderma-like skin changes, are presented.	false
+cf354471d442bc92f65e089af6c75ab1ce6b60f0	The neurological manifestations in three patients with cardinal features of @DISEASE$, including short stature, premature greying and baldness, thin arms and legs, @PHENOTYPICFEATURE$ and scleroderma-like skin changes, are presented.	false
+16a162b27c5292e6c56d1f8fde2e1ee904865588	The clinical phenotype of @DISEASE$ (WS) includes @PHENOTYPICFEATURE$, premature cataracts, skin atrophy, osteoporosis, graying and loss of hair, neoplasia, diabetes mellitus, and arteriosclerosis.	has_symptom
+ead257fc12e0231cc99ea4567affdfb76aada93a	The clinical phenotype of Werner's syndrome (WS) includes short stature, premature @PHENOTYPICFEATURE$, skin atrophy, osteoporosis, graying and @DISEASE$, neoplasia, diabetes mellitus, and arteriosclerosis.	false
+2ac3d4f27065b7b9ea340698e6d9b4f6eae52229	The clinical phenotype of Werner's syndrome (WS) includes short stature, premature cataracts, @DISEASE$, osteoporosis, graying and loss of hair, @PHENOTYPICFEATURE$, diabetes mellitus, and arteriosclerosis.	false
+12090e0140a395c9d47d33ab035d47314b238795	The clinical phenotype of @DISEASE$ (WS) includes short stature, premature @PHENOTYPICFEATURE$, skin atrophy, osteoporosis, graying and loss of hair, neoplasia, diabetes mellitus, and arteriosclerosis.	false
+21a4e085219926e74c07718d76424821720d4e6a	The clinical phenotype of Werner's syndrome (WS) includes short stature, premature cataracts, skin atrophy, osteoporosis, graying and loss of hair, @PHENOTYPICFEATURE$, @DISEASE$, and arteriosclerosis.	false
+0446f7f5c2ddbc47aecaf10fdf69ed224dd45809	The clinical phenotype of Werner's syndrome (WS) includes @DISEASE$, premature @PHENOTYPICFEATURE$, skin atrophy, osteoporosis, graying and loss of hair, neoplasia, diabetes mellitus, and arteriosclerosis.	false
+aaef2f329049f74f139fd0063820580fd4e25d5a	The clinical phenotype of Werner's syndrome (WS) includes short stature, premature cataracts, skin atrophy, osteoporosis, graying and @DISEASE$, @PHENOTYPICFEATURE$, diabetes mellitus, and arteriosclerosis.	false
+1fdf1577594cf0bfc739f29a915308b84c612b82	The clinical phenotype of @DISEASE$ (WS) includes short stature, premature cataracts, skin atrophy, osteoporosis, graying and loss of hair, @PHENOTYPICFEATURE$, diabetes mellitus, and arteriosclerosis.	false
+b855744473962cee0d10d1bb6667d5bbbac68b40	The clinical phenotype of Werner's syndrome (WS) includes short stature, premature @PHENOTYPICFEATURE$, skin atrophy, osteoporosis, graying and loss of hair, neoplasia, @DISEASE$, and arteriosclerosis.	false
+992481b5040cdab3fe92d4931aba75f0c24f150e	The clinical phenotype of Werner's syndrome (WS) includes @DISEASE$, premature cataracts, skin atrophy, osteoporosis, graying and loss of hair, @PHENOTYPICFEATURE$, diabetes mellitus, and arteriosclerosis.	false
+9366237bba16b54cb79b4e864def980b7642b22c	The clinical phenotype of Werner's syndrome (WS) includes short stature, premature @PHENOTYPICFEATURE$, @DISEASE$, osteoporosis, graying and loss of hair, neoplasia, diabetes mellitus, and arteriosclerosis.	false
+024560911fa9291b4828e191feff4a805aa41bab	@DISEASE$, inherited by autosomal recessive transmission, is characterized primarily by a @PHENOTYPICFEATURE$, premature greying and balding, trophic ulceration of the legs, diabetes mellitus and hypogonadism.	has_symptom
+c4361cf7acce4b490631000aba594230986d8706	According to the ocular symptoms and systemic signs, including low body weight, a @PHENOTYPICFEATURE$, a bird-like face, atrophic and scleroderma-like skin, in addition to the juvenile cataracts, the clinical diagnosis of @DISEASE$ was made.	has_symptom
+69e25ec1757c2be158660a5bd3406282df9ae471	According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and @PHENOTYPICFEATURE$-like skin, in addition to the juvenile cataracts, the clinical diagnosis of @DISEASE$ was made.	false
+4f158e37fbc88ea189555972d374a2722bc1230e	According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and @PHENOTYPICFEATURE$-like skin, in addition to the juvenile @DISEASE$, the clinical diagnosis of Werner's syndrome was made.	false
+61469b90341c618553a47f3dfbdc2eeb6712b01d	According to the ocular symptoms and systemic signs, including low body weight, a @DISEASE$, a bird-like face, atrophic and @PHENOTYPICFEATURE$-like skin, in addition to the juvenile cataracts, the clinical diagnosis of Werner's syndrome was made.	false
+0046d36f633937a68f7861ddfe308b4faf92d65c	The combination of dementia and @PHENOTYPICFEATURE$ in this and two other reported families with @DISEASE$ suggest that this entity represents a distinctive clinicopathological entity.	has_symptom
+3ff9db815bbd429eed7a34151832abeb0b6270f6	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, @PHENOTYPICFEATURE$ and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (@DISEASE$, OMIM 134780).	has_symptom
+c338f61e974d81fa981a316aba1dd7d2af5ff2dc	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, @PHENOTYPICFEATURE$ and hypoplastic femur and tibia, clinically diagnosed with @DISEASE$ (FFS, OMIM 134780).	has_symptom
+fd206e8e3f4febf5c4a91d8dc4d9a17de06a3160	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent @PHENOTYPICFEATURE$, short stature and hypoplastic femur and tibia, clinically diagnosed with @DISEASE$ (FFS, OMIM 134780).	false
+4bf7e699823ef08769e1c3b8ba1ac457d79ccc3e	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent @PHENOTYPICFEATURE$, short stature and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (@DISEASE$, OMIM 134780).	false
+fb172f636e56b87c4b93bdfd0ef6cb3929136d5a	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent @PHENOTYPICFEATURE$, @DISEASE$ and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (FFS, OMIM 134780).	false
+e0960c0f81a9e3481715708cd1bc89bb026db286	The proband and his cousin showed severe MR, @PHENOTYPICFEATURE$, recurrent respiratory infections and various other features characteristic of @DISEASE$.	has_symptom
+84f5c41d0d305cc4cb5f86a82d935027430c8bf5	Patients with @DISEASE$ present with distinct facial anomalies and clinical features such as global developmental delay, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	has_symptom
+54d67d68eb4768184fd0d6bc41243badf6e42221	Deep brain stimulation for the management of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a4216fbf414609e9f5ee54c037853a2a9d21896a	Furthermore, no previous reports have discussed the efficacy of surgical treatment for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+d7f4fc96e841f71019ac66e0686338ea8ee4916f	In the present report, we describe a case of @DISEASE$ in a 15-year-old boy who developed @PHENOTYPICFEATURE$ following influenza-associated acute encephalitis.	has_symptom
+a8c880a6d161d6ab60b086f387b2ffcdc04d442f	Solitary median maxillary central incisor, @PHENOTYPICFEATURE$, choanal atresia/midnasal stenosis (@DISEASE$) syndrome.	has_symptom
+c967745b2c34cc58b1b50d57943ebd27792c4927	There is a well-known association between neurofibromatosis-1 (NF1) and @DISEASE$-like manifestations, including short stature, short broad neck, and @PHENOTYPICFEATURE$.	has_symptom
+8095fac424ecabcb5e85200a0977d80cf4d61355	There is a well-known association between neurofibromatosis-1 (NF1) and @DISEASE$-like manifestations, including @PHENOTYPICFEATURE$, short broad neck, and hypertelorism.	false
+c4e9a66490987c7df16ddd3edd666d56d28ea2a8	There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including @PHENOTYPICFEATURE$, short broad neck, and @DISEASE$.	false
+ea7b6d3eb622d8b64139713212b67de6c2f870e7	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	has_symptom
+b3d8cd4dafc7a937415762ba33e5c6e91be64eac	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+f6a11d4a34a4f4427eb11ad09aa79e0b82658b77	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+876d61f45efb566cfd0e2b1b3f75add2080cf541	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: @DISEASE$ or Noonan syndrome?	false
+b25df4e9ca03a9b6b8fb2b52fe3193c3c1f5e513	Iris coloboma, ptosis, @DISEASE$, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+563d5ee7186aa32dd9dd0c4df539cd4d0d987542	Iris coloboma, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?	false
+e5d3569ee2da0c8440f1e65166c9345cb5e4eb63	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or @DISEASE$?	false
+d6ada4a32e5bc2703bae182f887d71a2587a033b	Dilatation of the ascending aorta and craniofacial dysmorphism including webbed neck, @PHENOTYPICFEATURE$, and low-set ears raise the possibility of @DISEASE$.	has_symptom
+1d5dcfba62c83f9ea79eb1d971ce56554da9a522	Individuals with @DISEASE$ are demonstrated to have an increased mid face height, @PHENOTYPICFEATURE$, retrognathia, a lower nasal bridge and nasal root, a wider mouth, a more prominent upper lip, and apparently lower set ears than normal control individuals.	has_symptom
+ce8f17780fc2c99ade4ab36a3b964622b07e95a3	A multidisciplinary team assessed 23 patients with various manifestations of the @DISEASE$, including pulmonary valve stenosis (with leaflet dysplasia), "typical" facial appearance (including @PHENOTYPICFEATURE$, epicanthic folds, flat nasal bridge, and apparently low-set ears), short stature, and mental retardation.	has_symptom
+d1837ac90585ebfd1245bad3fa9965e9da837510	A multidisciplinary team assessed 23 patients with various manifestations of the Noonan syndrome, including pulmonary valve stenosis (with leaflet dysplasia), "typical" facial appearance (including @DISEASE$, epicanthic folds, flat nasal bridge, and apparently low-set ears), @PHENOTYPICFEATURE$, and mental retardation.	false
+4a061644220bb522dcbf5cb87342c22d04a0badf	A multidisciplinary team assessed 23 patients with various manifestations of the @DISEASE$, including pulmonary valve stenosis (with leaflet dysplasia), "typical" facial appearance (including hypertelorism, epicanthic folds, flat nasal bridge, and apparently low-set ears), @PHENOTYPICFEATURE$, and mental retardation.	false
+c5bc6d2e169f8b16c1ebc0924289fe593cb1ac3a	A multidisciplinary team assessed 23 patients with various manifestations of the Noonan syndrome, including pulmonary valve stenosis (with leaflet dysplasia), "typical" facial appearance (including @DISEASE$, epicanthic folds, flat nasal bridge, and apparently low-set ears), short stature, and @PHENOTYPICFEATURE$.	false
+004b69d94652f9fcaa3f1d4bee3812e54a8dee35	A multidisciplinary team assessed 23 patients with various manifestations of the @DISEASE$, including pulmonary valve stenosis (with leaflet dysplasia), "typical" facial appearance (including hypertelorism, epicanthic folds, flat nasal bridge, and apparently low-set ears), short stature, and @PHENOTYPICFEATURE$.	false
+951fe23d50b948423539578425e545f1c396ba70	We report the case of a patient with multiple findings characteristic of @DISEASE$, including a severe lymphedema present since early infancy, @PHENOTYPICFEATURE$, low-set and prominent ears, broad facies, low posterior hairline, high arched palate, broad short neck, slightly short stature, and moderate dental malocclusion.	has_symptom
+6ca47281f08cd2588513b93c9640b76360568a28	We report the case of a patient with multiple findings characteristic of @DISEASE$, including a severe lymphedema present since early infancy, hypertelorism, low-set and prominent ears, broad facies, low posterior hairline, high arched palate, broad short neck, slightly @PHENOTYPICFEATURE$, and moderate dental malocclusion.	false
+32bc8aceb9b6a36aa1b49fa375b9499faec63ca6	We report the case of a patient with multiple findings characteristic of Noonan's syndrome, including a severe lymphedema present since early infancy, hypertelorism, low-set and prominent ears, broad facies, low posterior hairline, high arched @DISEASE$, broad short neck, slightly @PHENOTYPICFEATURE$, and moderate dental malocclusion.	false
+0b774e1386c3a4f4eac3c798f36511f277e19036	We report the case of a patient with multiple findings characteristic of Noonan's syndrome, including a severe lymphedema present since early infancy, @DISEASE$, low-set and prominent ears, broad facies, low posterior hairline, high arched palate, broad short neck, slightly @PHENOTYPICFEATURE$, and moderate dental malocclusion.	false
+8dcf9f8b2d2bd7896672f8e064a95f8c665f4cce	We report the case of a patient with multiple findings characteristic of Noonan's syndrome, including a severe @DISEASE$ present since early infancy, hypertelorism, low-set and prominent ears, broad facies, low posterior hairline, high arched palate, broad short neck, slightly @PHENOTYPICFEATURE$, and moderate dental malocclusion.	false
+433ba27235251da47c2b40bb7521797dfa0a0023	We report on a 16-year-old boy with @DISEASE$ who had short stature, @PHENOTYPICFEATURE$, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	has_symptom
+a10140667b2a831b44b33841e914fd321265c8ca	We report on a 16-year-old boy with @DISEASE$ who had @PHENOTYPICFEATURE$, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+8fe6fcc594e08df684e83b54f5383a078ea9b1b0	We report on a 16-year-old boy with Noonan syndrome who had @PHENOTYPICFEATURE$, hypertelorism, mild @DISEASE$, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+b271c1394dfa94769e0dbeb0d24b5b6ae7c1acf2	We report on a 16-year-old boy with Noonan syndrome who had @PHENOTYPICFEATURE$, hypertelorism, mild hearing loss, webbed neck, pectus deformities, @DISEASE$, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+f2320e91dacd6e60fefb0593b17af5e50e0d90b2	We report on a 16-year-old boy with @DISEASE$ who had short stature, hypertelorism, mild hearing loss, webbed neck, @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+b052b423afbe70bc6076fa4f87fab0aaf58d2474	We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild hearing loss, webbed neck, @PHENOTYPICFEATURE$, @DISEASE$, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+9bfccc4ee9a898be1fa88e651cf5f62e27c1b386	We report on a 16-year-old boy with Noonan syndrome who had short stature, @DISEASE$, mild hearing loss, webbed neck, @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+db95d70f296e0e1be7ee804a2cb309e133b7ec0a	We report on a 16-year-old boy with Noonan syndrome who had short stature, hypertelorism, mild @DISEASE$, webbed neck, @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+83e0085e9fbbdc01a3d02b3bdbb12195003008d7	We report on a 16-year-old boy with Noonan syndrome who had @PHENOTYPICFEATURE$, @DISEASE$, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+d3ca0ff5ca749003b0b4d731cff0a66cdde9a399	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, @PHENOTYPICFEATURE$ and heart defects.	has_symptom
+59baf3cf784b6c30ab012b6679bfc3b30245772d	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+c153f101d465836bfa9f8afe93b498ddeb4238cf	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, hypertelorism and heart defects.	false
+fa8b1939ffafe823d7e1aea069282ecff3a604ec	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+ee256dbf1c28ac09e947beb20b879f20e1ced4aa	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, hypertelorism and heart defects.	false
+f411603c91e6040be4e9cb86f7e320ad643baf92	Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+afa5f868b681d0d5a57a87144d3262655d72fec9	Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, @DISEASE$ and heart defects.	false
+6c565f3831ad9ee481891b1c3d14021fbb6226fb	@DISEASE$ (NS; MIM #163950) is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	has_symptom
+321f8e8834e4dbe320463a14115867c352230583	@DISEASE$ (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, @PHENOTYPICFEATURE$, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+2f2ac68dfa7305099b4e08dac970147f308f5470	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and @DISEASE$, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+2639811c33ca04ec790616e26c9369aff40b061f	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, @DISEASE$ (HCM), and atrial septal defects (ASDs).	false
+689e645203c9483117a92724b27c877297723437	@DISEASE$ (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+6f3898e9b81ae440fc20b162942aefd769a67eb1	Noonan syndrome (NS; MIM #163950) is an autosomal dominant @DISEASE$ characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+bd2dc9488a2b7e73520c16c6de1d721e5d5af20d	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, @PHENOTYPICFEATURE$, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, @DISEASE$ (HCM), and atrial septal defects (ASDs).	false
+a01d13f63b4f268b3129f4d7cbc1b4a92c5dc92e	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by @DISEASE$, downward slanting of the palpebral fissures, @PHENOTYPICFEATURE$, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+1cd368aa49bb478e8ea1daeb85dd029922f999c8	Noonan syndrome (NS; MIM #163950) is an autosomal dominant @DISEASE$ characterized by hypertelorism, downward slanting of the palpebral fissures, @PHENOTYPICFEATURE$, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+c89612b93d765a5c751b6ba9924fd8c3df11b56e	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, @PHENOTYPICFEATURE$, low-set posteriorly angulated ears, short stature, and @DISEASE$, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+070e87bea882a87b8fe7199aa6ed5ed8d0316609	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by @DISEASE$, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+e8a528ed96856fa5ca4738bddf57d354c3d1973a	@DISEASE$ is a relatively common developmental disorder that is characterized by reduced growth, @PHENOTYPICFEATURE$ and congenital heart defects.	has_symptom
+fffc10cc25fe914939a971c0e60801109afa4a36	Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1f608544478191d195205c8c6c32aa571303ae00	@DISEASE$ is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and @PHENOTYPICFEATURE$.	false
+d596ab5a7f11766c51cecaa836bce8cb55712fb0	Independently, caudal regression syndrome (CRS), @PHENOTYPICFEATURE$ (ACC) and partial lobar holoprosencephaly (@DISEASE$) have been reported in infants of diabetic mothers.	has_symptom
+26293c5856adb73187eca6dd1a6dcaef791d8faa	We report a case of @PHENOTYPICFEATURE$ in a child with @DISEASE$.	has_symptom
+1612214e73a1df388b0ebaf755a3ba3d2fc5e907	Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) or SeSAME (@DISEASE$) syndromes.	has_symptom
+0c84d70e2960eb961aa31fc6c109b4e734a19a8b	Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) or SeSAME (@DISEASE$) syndromes.	false
+009c3da5f5caf16fb1d39dfa84d61dba3dbc68c6	Mutations or deficiency of KCNJ10 can cause @DISEASE$ with epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes.	false
+0c6e3337c1887945a35941d5f37791c9d54bdfbd	Mutations or deficiency of KCNJ10 can cause hearing loss with epilepsy, @DISEASE$, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) or SeSAME (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) syndromes.	false
+7f9bff8f918a5478153b7268729a320672074d8b	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in @DISEASE$ (SeSAME)/epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.	has_symptom
+59057f0bfa6694edef670a74621531d4f50c23d7	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in @DISEASE$ (SeSAME)/epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.	false
+ee7fea5fb3076351d57dd21c29613b2128ca8197	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) @DISEASE$, a complex disorder that includes salt wasting and hypokalemic alkalosis.	false
+fe6711f9489e81d06aff24220c6517ad78bc6023	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, ataxia, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and @DISEASE$.	false
+034f367323d1ae84338474b76f290574aa285958	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, @DISEASE$, @PHENOTYPICFEATURE$, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and hypokalemic alkalosis.	false
+7535ed82caf214f25a07f66f140a710e01c3c785	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by mental retardation, @PHENOTYPICFEATURE$, seizures, hearing loss, and renal salt waste.	has_symptom
+62f4c263c999db68d0f20f7cfa9f656724224f2e	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, hearing loss, and renal salt waste.	false
+0f91b1191cd9ba5163e459e38e22dc79b29b06a9	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by @PHENOTYPICFEATURE$, ataxia, seizures, @DISEASE$, and renal salt waste.	false
+d5c14942dafc717409dba95cfac41e760513bcf1	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by @PHENOTYPICFEATURE$, @DISEASE$, seizures, hearing loss, and renal salt waste.	false
+693252dbc50723ee10048358d224e685c058a9c6	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, ataxia, @PHENOTYPICFEATURE$, @DISEASE$, and renal salt waste.	false
+5c603687f0125cc65f296d42874d3464f9977968	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by mental retardation, ataxia, @PHENOTYPICFEATURE$, hearing loss, and renal salt waste.	false
+742499f4c07bd3dd3fa06580a5e4dec6d4401992	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by @PHENOTYPICFEATURE$, ataxia, seizures, hearing loss, and renal salt waste.	false
+e7d38b1c5680b67157823d28c92e73c4ef98cb15	cause the autosomal recessive @DISEASE$ which is characterized by epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and a salt-wasting tubulopathy.	has_symptom
+503ee2f54c60d924580df96b1c6c2432a5029413	cause the autosomal recessive @DISEASE$ which is characterized by epilepsy, ataxia, @PHENOTYPICFEATURE$, and a salt-wasting tubulopathy.	false
+f4731c13b7d61252dbf74e5f5215748b52f23270	cause the autosomal recessive EAST syndrome which is characterized by epilepsy, @DISEASE$, @PHENOTYPICFEATURE$, and a salt-wasting tubulopathy.	false
+15c9b09fe9fa1627cd0cd1ab87e5a4db8330e265	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, @PHENOTYPICFEATURE$, and developmental abnormalities.	has_symptom
+10c4617de9e48e1903db4f091f166f7fd56939ad	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, @PHENOTYPICFEATURE$, ataxia, and developmental abnormalities.	false
+1bea9be3bb6f22f845573aff2dea9222a9a646c2	SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, @PHENOTYPICFEATURE$, @DISEASE$, and developmental abnormalities.	false
+64dd6769cf34ac72c58fa526f80a8be68119d5dc	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, and developmental abnormalities.	false
+1e5028ef82ac7a3bc80cacba30f915f36382901d	SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @PHENOTYPICFEATURE$, sensorineural deafness, @DISEASE$, and developmental abnormalities.	false
+0924221a2080017e9bd7d0bec3c21b4076caa7c3	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	has_symptom
+68696386556593e69d678a90537a282a658f0dd5	SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and electrolyte imbalance.	false
+cf762eae63dc2171dbbfa95b3930770b137eb804	SeSAME/EAST syndrome is a @DISEASE$ in humans, characterised by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance.	false
+fd1398e4ef64735c4f4cb08b9e69d29e8114d0e8	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by seizures, @PHENOTYPICFEATURE$, ataxia, developmental delay and electrolyte imbalance.	false
+6fea2f3687c43a4c791480b2d16ea7f269820adc	SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by @PHENOTYPICFEATURE$, sensorineural deafness, @DISEASE$, developmental delay and electrolyte imbalance.	false
+529be6dac1aec80f08ea31538371be9ae55de10d	SeSAME/EAST syndrome is a @DISEASE$ in humans, characterised by seizures, @PHENOTYPICFEATURE$, ataxia, developmental delay and electrolyte imbalance.	false
+ff0e1af1204ebcf2e284422374989a545c9e718e	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance.	false
+09683258154056c7c87c1d24ce8017aabfc76fb2	Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness and a renal tubulopathy designated as @DISEASE$.	has_symptom
+8c75f192d66aea45287b52efa295371014a3b8f8	Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, @DISEASE$, @PHENOTYPICFEATURE$ and a renal tubulopathy designated as EAST syndrome.	false
+3d06f5244183786b91587ead0e9f66e25788ff8a	Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, ataxia, @PHENOTYPICFEATURE$ and a renal tubulopathy designated as @DISEASE$.	false
+e6618ec4809eb76a97ebd05ddb71a9766ad43ff3	@DISEASE$ should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like @PHENOTYPICFEATURE$, epilepsy or sensorineural deafness.	has_symptom
+c79ad087559972a8f8120decf94c1b4301f8f5f6	EAST syndrome should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like @DISEASE$, epilepsy or @PHENOTYPICFEATURE$.	false
+432d7b5c0165cfc8c6aa05f434d4f8e225db8b1a	@DISEASE$ should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like ataxia, epilepsy or @PHENOTYPICFEATURE$.	false
+ac886c34d3f3c202e09e59035d3fc0d7232d40ef	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	has_symptom
+6b49aa176b059cf9590c43c1891cc6f1c809e7ab	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+da8f38d83d3b5013a8ef0d0c53afa9bf8b44da56	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+cd9f70570f3ed2df6687948c8bf02d875a79a4b3	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+4f5378d0ed8129c4dc4e8216004aa242ba94bbbe	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, sensorineural deafness, @DISEASE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+4e964b4b509844ab4c78c2c19260cb3f37e95395	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+3ccfd0667ba38a1ca3d3760decea563178f7a6df	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+4c22a5fffdfab1962b3209bba0c1532671bf0685	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+f4fc18115c48a78eece061db18a33186fba72e68	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+cc6671a7ba22036fc674468f707635ef4061de1a	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+b59d42ab876491ce1cd8c04ce5880ec725528d5a	We next injected splice- and translation-blocking kcnj10 antisense morpholino oligonucleotides and reproduced the cardinal symptoms of @DISEASE$ - @PHENOTYPICFEATURE$, epilepsy and renal tubular defects.	has_symptom
+23562a47151a8af4e4a48d24656aec41910bd064	Most previously studied newborn infants with @DISEASE$ have had atypical @PHENOTYPICFEATURE$.	has_symptom
+2148d01bc5f2c2392af5c37984bf61d90568fee3	In patients with @DISEASE$, @PHENOTYPICFEATURE$ is the first symptom occurring around 3-4?months of age.	has_symptom
+2b284c29cc90e8125e2eae91779d44c34504b56c	Genetic screens demonstrate that mutations of KCNJ10, the gene encoding Kir4.1, causes SeSAME/@DISEASE$, which is characterized by early onset @PHENOTYPICFEATURE$, compromised verbal and motor skills, profound cognitive deficits, and salt-wasting.	has_symptom
+f6f06390258cc684286041ee94f93af204234763	Genetic screens demonstrate that mutations of KCNJ10, the gene encoding Kir4.1, causes SeSAME/EAST syndrome, which is characterized by early onset @DISEASE$, compromised verbal and motor skills, profound @PHENOTYPICFEATURE$, and salt-wasting.	false
+e8b29e2a2487253fc90e3219b2e4737e8cc17078	Genetic screens demonstrate that mutations of KCNJ10, the gene encoding Kir4.1, causes SeSAME/@DISEASE$, which is characterized by early onset seizures, compromised verbal and motor skills, profound @PHENOTYPICFEATURE$, and salt-wasting.	false
+1bc92f9acdab059636e566c6cfefb1615358f93b	Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of @DISEASE$, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with @PHENOTYPICFEATURE$ in infancy.	has_symptom
+9a9c7eaf333c4ce98eb049bd320a0a61cfd7c81a	Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of @DISEASE$ that becomes clinically apparent with @PHENOTYPICFEATURE$ in infancy.	has_symptom
+5c603687f0125cc65f296d42874d3464f9977968	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by mental retardation, ataxia, @PHENOTYPICFEATURE$, hearing loss, and renal salt waste.	has_symptom
+d183a6b1349b779649846d9b5766e79be688f360	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, hearing loss, and renal salt waste.	false
+7535ed82caf214f25a07f66f140a710e01c3c785	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by mental retardation, @PHENOTYPICFEATURE$, seizures, hearing loss, and renal salt waste.	false
+0f91b1191cd9ba5163e459e38e22dc79b29b06a9	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by @PHENOTYPICFEATURE$, ataxia, seizures, @DISEASE$, and renal salt waste.	false
+43b1ae703740d684f51fd828851c746e0a9a2c96	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by mental retardation, @PHENOTYPICFEATURE$, seizures, @DISEASE$, and renal salt waste.	false
+95458f227bae3576eaad524aa16fb3c8ad58d5ed	Novel mutations in Kir4.1 have been associated with EAST/SeSAME syndrome, characterized by @PHENOTYPICFEATURE$, ataxia, @DISEASE$, hearing loss, and renal salt waste.	false
+742499f4c07bd3dd3fa06580a5e4dec6d4401992	Novel mutations in Kir4.1 have been associated with EAST/@DISEASE$, characterized by @PHENOTYPICFEATURE$, ataxia, seizures, hearing loss, and renal salt waste.	false
+64dd6769cf34ac72c58fa526f80a8be68119d5dc	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, and developmental abnormalities.	has_symptom
+15c9b09fe9fa1627cd0cd1ab87e5a4db8330e265	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, sensorineural deafness, @PHENOTYPICFEATURE$, and developmental abnormalities.	false
+10c4617de9e48e1903db4f091f166f7fd56939ad	SeSAME/@DISEASE$ is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with seizures, @PHENOTYPICFEATURE$, ataxia, and developmental abnormalities.	false
+579ecb2bcd863a57b755a03900bfb3e41920e197	SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @DISEASE$, sensorineural deafness, @PHENOTYPICFEATURE$, and developmental abnormalities.	false
+cece436887940f40dfc98f48968a0d63145b650e	SeSAME/EAST syndrome is a channelopathy consisting of a hypokalemic, hypomagnesemic, metabolic alkalosis associated with @DISEASE$, @PHENOTYPICFEATURE$, ataxia, and developmental abnormalities.	false
+ff0e1af1204ebcf2e284422374989a545c9e718e	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance.	has_symptom
+af3b700b1ce6dc191a26473dfe52fa5cce0a6f55	SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by @DISEASE$, sensorineural deafness, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	false
+0924221a2080017e9bd7d0bec3c21b4076caa7c3	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	false
+62dce5579caae137bfeae204dceed62231831989	SeSAME/EAST syndrome is a @DISEASE$ in humans, characterised by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, developmental delay and electrolyte imbalance.	false
+fd1398e4ef64735c4f4cb08b9e69d29e8114d0e8	SeSAME/@DISEASE$ is a multisystemic disorder in humans, characterised by seizures, @PHENOTYPICFEATURE$, ataxia, developmental delay and electrolyte imbalance.	false
+529be6dac1aec80f08ea31538371be9ae55de10d	SeSAME/EAST syndrome is a @DISEASE$ in humans, characterised by seizures, @PHENOTYPICFEATURE$, ataxia, developmental delay and electrolyte imbalance.	false
+105acfd27aef669ceb146b6c5fd13da5b4ec99b6	SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by @DISEASE$, @PHENOTYPICFEATURE$, ataxia, developmental delay and electrolyte imbalance.	false
+da8f38d83d3b5013a8ef0d0c53afa9bf8b44da56	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @PHENOTYPICFEATURE$, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	has_symptom
+111acbe23c534fe5738032219898370111930262	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @DISEASE$, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+cd9f70570f3ed2df6687948c8bf02d875a79a4b3	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+17a9c652c769a6e372d42f856a1a20753bd51e58	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+4e964b4b509844ab4c78c2c19260cb3f37e95395	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+fbd49cc1603ac562ed9c0f179f8c8f70ea5c290e	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @DISEASE$, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+3ccfd0667ba38a1ca3d3760decea563178f7a6df	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+dad68cd17525adc58db7cb1f4ab08a45e29e4d47	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, ataxia, intellectual disability, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+ac886c34d3f3c202e09e59035d3fc0d7232d40ef	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, @PHENOTYPICFEATURE$, intellectual disability, and electrolyte imbalance called SeSAME/@DISEASE$.	false
+f4fc18115c48a78eece061db18a33186fba72e68	Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex @DISEASE$ characterized by seizures, sensorineural deafness, ataxia, @PHENOTYPICFEATURE$, and electrolyte imbalance called SeSAME/EAST syndrome.	false
+c49a5bebe61fc796f95f4543fb0296edff0b2488	@DISEASE$ is a relatively rare disorder associated with XY @PHENOTYPICFEATURE$, gonadoblastoma, and kidney failure.	has_symptom
+cae0f122a9abec6a09751a871632103c47892444	@DISEASE$ (FS) is characterized by @PHENOTYPICFEATURE$ and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1).	has_symptom
+1b862047bc2475570c414db9a25977fb7103509b	@DISEASE$ (FS) is characterized by @PHENOTYPICFEATURE$ and nephropathy.	has_symptom
+76234615ff5800c4ab486208ae00fc1a63fbc40f	In the @DISEASE$ there is an association between XY @PHENOTYPICFEATURE$ and chronic renal failure.	has_symptom
+ef0023a5e8a9bf5693bd9091fc2a24d1d69306b1	Sexual determinism deficiencies are then presented: Turner syndrome, XX males, pure gonadal dysgenesis, true hermaphroditism, @PHENOTYPICFEATURE$, Drash and @DISEASE$.	has_symptom
+a0d44988b6b68a5958c2d394f6ca75ef2b3623e8	Sexual determinism deficiencies come after: Turner syndrome, XX males, pure gonadal dysgenesis, and true hermaphroditism, @PHENOTYPICFEATURE$, Drash and @DISEASE$.	has_symptom
+4bb0851439be778f1cb56f88135650555c890c97	Here we show that a related disease, @DISEASE$, characterized by focal glomerular sclerosis, delayed kidney failure and complete @PHENOTYPICFEATURE$, is probably caused by specific intronic point mutations of WT1 that preferentially affect a CpG dinucleotide.	has_symptom
+9317b9b31d9e8442649031ee4a97a13d0af9529f	An unusual phenotype of @DISEASE$ due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of @PHENOTYPICFEATURE$.	has_symptom
+a7ffcc6d251fa860b0a5b9c7dc4ec52bc5b2bfc7	@DISEASE$ (FS) is characterized by chronic renal failure in early adulthood, varying degrees of @PHENOTYPICFEATURE$, and a high risk for gonadal germ cell malignancies, particularly gonadoblastoma.	has_symptom
+afc5f66f142d9bce6d844dc1458a5798972c6c7a	@DISEASE$ (RS) is a rare autosomal recessive disorder characterized by heterogeneous clinical features, the most notable being tetraphocomelia, cleft lip, and @PHENOTYPICFEATURE$.	has_symptom
+d82616a852ceecb7bc2ad8cf1f7888f166b32fcb	@DISEASE$ is a disorder of continuous myotonia causing blepharospasm, acquired @PHENOTYPICFEATURE$, and blepharophimosis.	has_symptom
+03d0543be6d87691d73bd9a5a08999804ca0f29c	Two patients with @DISEASE$ presented with blepharospasm, acquired @PHENOTYPICFEATURE$, and blepharophimosis.	has_symptom
+27db33dee301c2f731c9946ad29e9fe5ed429969	OCRL1 mutation in a boy with @DISEASE$, mild mental retardation, but without @PHENOTYPICFEATURE$.	has_symptom
+1dad1a2771343291b7c2ca300c454da0b5bd0d8f	The average life span of ferrets is about 5-11 years with onset of geriatric diseases between 3-4 years including endocrinopathies, neoplasia, gastrointestinal diseases, cardiomyopathy, splenomegaly, renal diseases, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+beae0d14e9af390f4ddb0f53afe5f666c2c13c84	The average life span of ferrets is about 5-11 years with onset of geriatric diseases between 3-4 years including endocrinopathies, @PHENOTYPICFEATURE$, gastrointestinal diseases, cardiomyopathy, splenomegaly, renal diseases, dental diseases, and @DISEASE$.	false
+ee56087cd3742f224db434097c7e3b420271d7f4	The average life span of ferrets is about 5-11 years with onset of geriatric diseases between 3-4 years including endocrinopathies, @PHENOTYPICFEATURE$, gastrointestinal diseases, @DISEASE$, splenomegaly, renal diseases, dental diseases, and cataract.	false
+0cc7d1d7f731351762c71309fa83ad5ccd47b148	The average life span of ferrets is about 5-11 years with onset of geriatric diseases between 3-4 years including endocrinopathies, @PHENOTYPICFEATURE$, gastrointestinal diseases, cardiomyopathy, splenomegaly, @DISEASE$, dental diseases, and cataract.	false
+2fd377d2fcf23a45c1fd9603dda6e1c48fbd688b	The average life span of ferrets is about 5-11 years with onset of geriatric diseases between 3-4 years including endocrinopathies, @PHENOTYPICFEATURE$, gastrointestinal diseases, cardiomyopathy, splenomegaly, renal diseases, @DISEASE$, and cataract.	false
+f0d53094c9fa23b4d1c3c154ab67217c3bb74ad3	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral @PHENOTYPICFEATURE$, mental retardation, neonatal hypotonia, and renal Fanconi syndrome, and for @DISEASE$, another X-linked condition characterized by kidney reabsorption defects.	has_symptom
+b2fbfab2f147e773ad80bd633c7c6b3a934e91cc	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral cataracts, @PHENOTYPICFEATURE$, neonatal hypotonia, and renal @DISEASE$, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects.	false
+720ba2bf20fbafc97fc0b7750e831ec8ce5efbff	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral @DISEASE$, @PHENOTYPICFEATURE$, neonatal hypotonia, and renal Fanconi syndrome, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects.	false
+734a15bb7a82badea74bb9c1d1d3bd40bfd1dfa6	Mutations in the inositol 5-phosphatase OCRL are responsible for @DISEASE$, an X-linked disorder characterized by bilateral cataracts, @PHENOTYPICFEATURE$, neonatal hypotonia, and renal Fanconi syndrome, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects.	false
+ce073084c01a5f5508f3d4505fd6207484ba0a67	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral cataracts, @PHENOTYPICFEATURE$, neonatal hypotonia, and renal Fanconi syndrome, and for @DISEASE$, another X-linked condition characterized by kidney reabsorption defects.	false
+90df225c5b732f40e672a1bb1e7332f518b0f2fc	Nance-Horan Syndrome (NHS) or X-linked @PHENOTYPICFEATURE$-@DISEASE$ (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies.	has_symptom
+c359eebcd7354795704b148fa57edf046dab3bb1	Increased @PHENOTYPICFEATURE$ (64%), increased thirst (58%), pain (24%), increased frequency of urination (24%), signs of osteoarthritis (24%) and @DISEASE$ (22%) were most frequently identified at the time of consultation.	has_symptom
+ac6de849d8c2f270d3ba73750ecedca53c050b67	The human X-linked @PHENOTYPICFEATURE$-@DISEASE$, Nance-Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes.	has_symptom
+9e72585c6dea31db8bb689182ca6b24ea58e2dd0	There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the @PHENOTYPICFEATURE$-@DISEASE$ or Nance-Horan (NH) syndrome.	has_symptom
+a1b27f8d2af0ccb5c680c27a7de0758ff280ea7f	There are three types of X-linked @PHENOTYPICFEATURE$ recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-@DISEASE$ or Nance-Horan (NH) syndrome.	has_symptom
+4e6297f6a7b6447c5ac4956de7d9135dfdf00a8e	There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight @PHENOTYPICFEATURE$; and the cataract-dental syndrome or Nance-Horan (NH) @DISEASE$.	false
+284b65161360d1f0b5a81cf701bb452e7e34db66	There are three types of X-linked @DISEASE$ recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight @PHENOTYPICFEATURE$; and the cataract-dental syndrome or Nance-Horan (NH) syndrome.	false
+3a9d92d7b51f35dc4f2d1e38cb5cfd94bc42f820	There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight @PHENOTYPICFEATURE$; and the cataract-@DISEASE$ or Nance-Horan (NH) syndrome.	false
+e1156f8cc448aab95fec3393a81a95b26a4e5138	There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight @PHENOTYPICFEATURE$; and the @DISEASE$-dental syndrome or Nance-Horan (NH) syndrome.	false
+27dd13515072f291890bca2e560b86d128b74669	Nance-Horan Syndrome (NHS) or X-linked @PHENOTYPICFEATURE$-@DISEASE$ is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation.	has_symptom
+63df589333146210839c3128cdeccbf88c67dd8e	Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital @DISEASE$, dental anomalies, dysmorphic features and, in some cases, @PHENOTYPICFEATURE$.	false
+709dbf80056d0de4a4f71a50a61a3817a5782d6d	Nance-Horan Syndrome (NHS) or X-linked @DISEASE$-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, @PHENOTYPICFEATURE$.	false
+f4f4b6a3813a608ff6ea163af07ff1bf52c260c6	Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features and, in some cases, mental retardation.	false
+d384364d5f00cd42a38678735215f67a8949b3f8	Nance-Horan Syndrome (NHS) or X-linked @DISEASE$-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, @PHENOTYPICFEATURE$, dysmorphic features and, in some cases, mental retardation.	false
+7fb39fa9e886fcf84cf088817fa09480ead145a9	Nance-Horan Syndrome (NHS) or X-linked cataract-@DISEASE$ is a disease of unknown gene action mechanism, characterized by congenital cataract, @PHENOTYPICFEATURE$, dysmorphic features and, in some cases, mental retardation.	false
+e4895c6d16e51d686c2eb9b412e9d77080eeb9d1	Nance-Horan Syndrome (NHS) or X-linked cataract-@DISEASE$ is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, @PHENOTYPICFEATURE$.	false
+2464e15a4ae81e7d7eed02f7bc0692bdb9b46f30	@DISEASE$ (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, @PHENOTYPICFEATURE$, dysmorphic features and, in some cases, mental retardation.	false
+045e75023e88fd72ff2d1953ab1564af509cc65d	@DISEASE$ (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, @PHENOTYPICFEATURE$.	false
+09a5ffab22f98fcc3343b14b88da95cf2bc01336	In addition, she had multiple congenital anomalies including atrial septal defect, @PHENOTYPICFEATURE$, dental and digital anomalies, a constellation that suggested the diagnosis of oculo-facio-cardio-@DISEASE$, a condition caused by mutations in BCOR.	has_symptom
+6d99b62eb78b351b597763b90c24916eae2f274b	In addition, she had multiple congenital anomalies including atrial septal defect, cataracts, dental and @PHENOTYPICFEATURE$, a constellation that suggested the diagnosis of oculo-facio-cardio-@DISEASE$, a condition caused by mutations in BCOR.	false
+cce01e63b6fd3d79c89b8d8cece8d6e9e734f561	In addition, she had multiple congenital anomalies including atrial septal defect, @DISEASE$, dental and @PHENOTYPICFEATURE$, a constellation that suggested the diagnosis of oculo-facio-cardio-dental syndrome, a condition caused by mutations in BCOR.	false
+0cc113de64b8c92dd85cd33e6d3a1aec39ed34e6	In addition, she had multiple @DISEASE$ including atrial septal defect, cataracts, dental and @PHENOTYPICFEATURE$, a constellation that suggested the diagnosis of oculo-facio-cardio-dental syndrome, a condition caused by mutations in BCOR.	false
+3771af37b249d0589bc30cf280949a39b70775c7	Affected dogs were not clinically @PHENOTYPICFEATURE$, and did not have the ocular abnormalities seen in human X-linked or @DISEASE$.	has_symptom
+dfb0e6974c41b78e4bd421d87d9b4e52c25b506a	@DISEASE$ is characterised by new @PHENOTYPICFEATURE$, pain, and fatigue several decades after the acute polio, and affects approximately 1/4 of patients with previous paralytic polio.	has_symptom
+197bc1808663425f71abf083552a29077b5c3c2d	We describe 7 Polynesian babies with a unique severe form of @DISEASE$ characterized by antenatal @PHENOTYPICFEATURE$, subependymal cysts, only partial response to biotin, and a poor outcome.	has_symptom
+48eeaf0dc96d1a66cb8600586f46444aee903da0	Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with @PHENOTYPICFEATURE$, @DISEASE$ and abnormal maternal serum biochemistry.	has_symptom
+4913086fc7d9f2a47008ca1b515df5d3271fe84e	A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, @PHENOTYPICFEATURE$, @DISEASE$, severe dermatitis, and other features.	has_symptom
+c6019bc5d40e2f8f016ec85060ff4697a14a6360	We report on a 1-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$, developmental delay and dysmorphic features.	has_symptom
+d92cc7bfb846430850fbb246ea7bfeb984b63dee	Additional variable features amongst the patients included @PHENOTYPICFEATURE$, metopic ridging or @DISEASE$, cleft palate, cardiac defects, and mild hypotonia.	has_symptom
+83f2ad20d61b12fd3d7ae58b3ad1ab4a28cb8bb9	Additional variable features amongst the patients included @DISEASE$, metopic ridging or craniosynostosis, @PHENOTYPICFEATURE$, cardiac defects, and mild hypotonia.	false
+e0b58fbf9f3549b0dd72266b6ae3fa8a6586e5ad	Additional variable features amongst the patients included microcephaly, metopic ridging or @DISEASE$, @PHENOTYPICFEATURE$, cardiac defects, and mild hypotonia.	false
+31233ef0c5b2a8f53d214df2f9f6089fbec3dd70	We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+8520f9f4307ebc62b7e2bb98c03bc7e6a56cbf5b	We describe a growth-retarded newborn infant with @DISEASE$, @PHENOTYPICFEATURE$, hydrancephaly, oligodactyly, humero-radial synostosis, and normal chromosomes.	has_symptom
+818c201a2c3ac9e6a89b1146c1e2fd794969480f	We present a six year old, nonverbal African American female with @PHENOTYPICFEATURE$, autism, global developmental delay, and metopic @DISEASE$.	has_symptom
+2d4a6f3a99cdf82d5ee6771177c0095f9d98844c	We present a six year old, nonverbal African American female with microcephaly, @PHENOTYPICFEATURE$, global developmental delay, and metopic @DISEASE$.	false
+a933aed07da82267fd98ee791b7551847c52f243	We present a six year old, nonverbal African American female with @DISEASE$, @PHENOTYPICFEATURE$, global developmental delay, and metopic craniosynostosis.	false
+2b7d9f022948a48dd056f1f97ae3cab6ce697904	The diagnosis of @PHENOTYPICFEATURE$, possibly secondary to @DISEASE$, was made.	has_symptom
+14d596ed0450cb0c0bb268ceef89115d565d4be9	The child showed a phenotype consisting of neonatal @DISEASE$, @PHENOTYPICFEATURE$, and borderline developmental delay.	has_symptom
+3bce182a107e9e0a82bacbdb64fc6e671f987118	We report on a patient affected by intellectual disability, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+11e6d27a48a51e98c3378047869c8c3167ec5c6c	We report on a patient affected by @PHENOTYPICFEATURE$, @DISEASE$, and microcephaly.	false
+fa4251bc7619f47066ddafae82a26bedca44d050	We report on a patient affected by @PHENOTYPICFEATURE$, craniosynostosis, and @DISEASE$.	false
+ec17d2916a996ff1907633d3461402b144d8efa2	Domination of the clinical features of @DISEASE$ was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and @PHENOTYPICFEATURE$.	has_symptom
+edc850dd3191b4ca48255be89e1361dce097ad42	Domination of the clinical features of @DISEASE$ was observed: mild mental retardation, trigonocephaly, @PHENOTYPICFEATURE$, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia.	false
+d62b79c66e8f5d2ae7ab9df90bc4c39e2fc94a88	Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, @PHENOTYPICFEATURE$, downward slanting palpebral fissures, low set ears, carp-shape mouth and @DISEASE$.	false
+6cd234df31ed2962899910995344f77589a2210b	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	has_symptom
+aaf4e442d884d951b21227805c8017d7be9c165e	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	has_symptom
+64524897a7481b7616db8d07162b3ffa9ab256c9	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or telecanthus, micrognathia, hypoplastic mandible, and low-set ears.	false
+0dd666bf7f099eef6b7665352b08ae9c87b17ab1	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or telecanthus, @DISEASE$, hypoplastic mandible, and low-set ears.	false
+e6f50ebeab31e2a531c61d85724ea9b77a04fe88	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or @DISEASE$, micrognathia, hypoplastic mandible, and low-set ears.	false
+8c87d4329a5ca5f30542735046ac94fc922bec9b	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or telecanthus, micrognathia, @DISEASE$, and low-set ears.	false
+63de8fd5b629fd43f1f2d07c16ddaa0cb96b0c7b	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	has_symptom
+fbbce8596697d8d1697a28d5d5a6df16a55f0184	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or @DISEASE$, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+d926e2d166872ffe166784227a9d2d993f5001a7	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+573d78fce61967188dcca51d6b3453df1eafad5b	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, @DISEASE$ and glossal defects.	false
+c83ba7956bcd5d6abe317010c9e8ecf65fad3ac4	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+fb7c6579f33d808eec7e7559034ccf217f735f0a	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+8716987970149fb11a5998f1d95d58a24b227bb9	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, @DISEASE$ and glossal defects.	false
+e2889944bfb2d0c60cabe7f5a7d9879603163197	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including @DISEASE$ and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+5741a16d05225f9ea4175235bd552bae5c029e4e	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including @DISEASE$ and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+0196f6d2ee15e36616924a783da5934652e09416	Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or @DISEASE$, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+a494e43dc6e01afc9e8dc3177b0a8d459da85d95	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+4a06edeb6f70203240297240e56bb4ca2eb4214a	An abnormality could be found in electroencephalograms of a child with @DISEASE$ and 2 children with @PHENOTYPICFEATURE$.	has_symptom
+14e6dbf19636ed2644327034f0689fb10a3afb9f	Although @PHENOTYPICFEATURE$ was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of @DISEASE$.	has_symptom
+433e4f12806a52a37907811026ac25cb159bc763	Although hydrocephalus was rarely reported as an associated malformation, it was suggested that @PHENOTYPICFEATURE$ might be responsible for mental retardation in some cases of @DISEASE$.	has_symptom
+f51bd9ef169e874dcdbadde23980f23957e62094	Although hydrocephalus was rarely reported as an associated malformation, it was suggested that @DISEASE$ might be responsible for @PHENOTYPICFEATURE$ in some cases of Apert syndrome.	false
+b7ce235c07a48110b4c211a0fc6cbc22b136ec94	Although @DISEASE$ was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for @PHENOTYPICFEATURE$ in some cases of Apert syndrome.	false
+fd8bb4240f993ccb17473c808d5526eee3533024	Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for @PHENOTYPICFEATURE$ in some cases of @DISEASE$.	false
+028852def269ed6676066e691bed8f99d0c145d9	Studies of the central nervous system in @DISEASE$ indicate that distortion ventriculomegaly is common, but progressive @PHENOTYPICFEATURE$ occurs infrequently.	has_symptom
+176e2b5e012771ceb323809e12b029601ced31c2	Shunt-dependent @PHENOTYPICFEATURE$ is predominantly associated with Crouzon or Pfeiffer syndrome while in the @DISEASE$ the usual finding is nonprogressive ventriculomegaly which, however, may also occur in some cases of Crouzon syndrome.	has_symptom
+2a79237fa22370c3cabcc8622d6be9750a0414be	The common co-existence of @PHENOTYPICFEATURE$ and multiple premature sutural fusion in Pfeiffer syndrome is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and @DISEASE$.	has_symptom
+85caf8e3109f3dc0d2ad3e42d93d088b1a3b4c9a	A retrospective evaluation was carried out to define the incidence of @PHENOTYPICFEATURE$ and associated factors in 44 patients with @DISEASE$ treated at The Hospital for Sick Children in Toronto over a 22-year period.	has_symptom
+658ebf25e49718c41e5bdd50da423766bacacc61	We present a case of @DISEASE$ that shows bilateral periventricular cysts, unusual posterior downward curving of the lateral ventricles without evidence of @PHENOTYPICFEATURE$, along with a decreased anterior-posterior diameter of the cranial vault.	has_symptom
+71d725c33dd886831b03c3c99b8241aa24265950	The mildest from, @DISEASE$ (FCAS), is characterized by remitting fevers, urticaria-like rash, polyarthralgia/@PHENOTYPICFEATURE$, and usually caused by cold exposure.	has_symptom
+fdd1919a2f6449d985797c125eb5d5ef8482b050	The mildest from, familial cold autoinflammatory syndrome (@DISEASE$), is characterized by remitting fevers, urticaria-like rash, polyarthralgia/@PHENOTYPICFEATURE$, and usually caused by cold exposure.	has_symptom
+37240c34f459020d4c4d818dd3ee9eb730b8c857	The patients presented with typical features of @DISEASE$, such as severe mental retardation, @PHENOTYPICFEATURE$, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	has_symptom
+2cb7273a808d0a3ac579910267282cf2eba7696b	The patients presented with typical features of @DISEASE$, such as @PHENOTYPICFEATURE$, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+196d81724ef779b133b553de35edcccf8bd3a6ef	The patients presented with typical features of @DISEASE$, such as severe mental retardation, speech impairment, hyperactivity, @PHENOTYPICFEATURE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+70dbd1162b7df88e3e0d887659e9c4371245c613	The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, @DISEASE$, hyperactivity, @PHENOTYPICFEATURE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+b8940695c699b1fdd4afe67f8f23a6ce0a06e4b1	The patients presented with typical features of Cabezas syndrome, such as @PHENOTYPICFEATURE$, @DISEASE$, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+c9b4706ff3f322d4257118c9d029d1c353d1b3e7	Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, @DISEASE$, unstable angina, stable angina, non cardiac @PHENOTYPICFEATURE$, arrhythmia and others.	has_symptom
+a1f20787953957f04023b6ea322ec44cde2298eb	Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, @DISEASE$, unstable angina, stable angina, non cardiac chest pain, @PHENOTYPICFEATURE$ and others.	false
+5acf13ab0ac97a176d5975c0bd8b64055037ea53	Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, stress cardiomyopathy, unstable angina, stable angina, non cardiac @DISEASE$, @PHENOTYPICFEATURE$ and others.	false
+04bf52e33b22fba43d0dc90392c5fccff927fbbc	We report a patient with @DISEASE$ in whom bifascicular block, prolonged P-R interval and @PHENOTYPICFEATURE$ appeared three years before any clinical or laboratory evidence of active skeletal muscle myositis.	has_symptom
+7732f6698d9cdb9f2d0fd5a7f3e6c9cdf9bcc445	A case of autism with @DISEASE$ with @PHENOTYPICFEATURE$ and a superior colobomatous cyst arising from the optic disc is reported.	has_symptom
+350f37f63ff4dd833b6a4df676e819901fcf6ef0	A case of @PHENOTYPICFEATURE$ with CHARGE syndrome with @DISEASE$ and a superior colobomatous cyst arising from the optic disc is reported.	false
+b2b09b5e53abfee3c36afd74023cd74207133a44	A case of @PHENOTYPICFEATURE$ with @DISEASE$ with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.	false
+6d86edeb5a84bf0df51cd548796731bbab470c41	If the diagnosis of @DISEASE$ is raised in utero, we suggest a careful US examination to identify typical external ears, choanal atresia, or @PHENOTYPICFEATURE$.	has_symptom
+88cb8ea52abb12df26c5027d1dc0a16bd18c31c0	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with @DISEASE$.	has_symptom
+777dcce77166b097052baa998a9be58d2dd9317d	We describe a case of @DISEASE$ presenting with atypical features, consisting of bilateral microphthalmia, coloboma, @PHENOTYPICFEATURE$ and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+e9859490085e598ae8d1df89d6519c77c16476b1	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral @DISEASE$, coloboma, @PHENOTYPICFEATURE$ and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+cbfeda728e4b23ead1c67acb039b2dbe54164c8c	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, @PHENOTYPICFEATURE$ and panhypopituitarism, showing considerable phenotypic overlap with @DISEASE$.	false
+fff0fa712f6400743a6d4bec2d6f912e0c6370c3	AP should be sought in patients with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+5c71ae4b65297dbb6549f13ff402806e2acb4bc3	@DISEASE$ of @PHENOTYPICFEATURE$, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia.	has_symptom
+be28be2426deebc85ca5e894de28972ae0c7797a	Here, we report on a patient previously diagnosed as probably having @DISEASE$, with microcephaly, mental retardation, 'bird-like' face, and @PHENOTYPICFEATURE$.	has_symptom
+f17eee79ba65ae27e4a8516292e9bd49ee52f845	Here, we report on a patient previously diagnosed as probably having NBS, with @PHENOTYPICFEATURE$, mental retardation, 'bird-like' face, and @DISEASE$.	false
+5aa6e24d5eaf76dbc26ecb5836f6c20259b55881	Here, we report on a patient previously diagnosed as probably having @DISEASE$, with @PHENOTYPICFEATURE$, mental retardation, 'bird-like' face, and short stature.	false
+9537832ccd9f033a7fef156b13316798c93dbc5b	Here, we report on a patient previously diagnosed as probably having @DISEASE$, with microcephaly, @PHENOTYPICFEATURE$, 'bird-like' face, and short stature.	false
+8e8275e34bf5a952a2dc3c387c168a7b7f6f9e98	Here, we report on a patient previously diagnosed as probably having NBS, with microcephaly, @PHENOTYPICFEATURE$, 'bird-like' face, and @DISEASE$.	false
+cc7e6e9e00a7bc73568933954cedfb62aeeba241	@DISEASE$ is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+c9001054afd448f71675c5b23ad2b48b43d98509	Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive @DISEASE$, short stature, and @PHENOTYPICFEATURE$.	false
+68f8fe182749ed1305a5ba1f123afe0fdbea4a58	Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by @DISEASE$, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and @PHENOTYPICFEATURE$.	false
+ecac119ec1729bdc7eebc8f78419d8d1351e1c9a	Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4c2670609ba8e2be3ac5cfa47197abd9d95b50b5	@DISEASE$ is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and @PHENOTYPICFEATURE$.	false
+43331516638a30847d534c0ac08f753116e76c81	@DISEASE$ (NBS) is an autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and a high incidence of cancer.	has_symptom
+7e6da51e96edb02faaa399ab53933957f5d1c723	Nijmegen breakage syndrome (@DISEASE$) is an autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and a high incidence of cancer.	has_symptom
+603386884ff2d2ca6b97c6ef07cd3e5b87180650	Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, and a high incidence of cancer.	false
+ce52e912cad5e440d1c5fda392e00a50947f5315	@DISEASE$ (NBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, short stature, immunodeficiency, and a high incidence of cancer.	false
+7ccc31993ef9d592903d28bb971e78632ef31abe	Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, short stature, @DISEASE$, and a high incidence of cancer.	false
+5fbfdc17b9a916f79e0044b7b8b799cb6d90fbac	Nijmegen breakage syndrome (@DISEASE$) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, short stature, immunodeficiency, and a high incidence of cancer.	false
+9ca5028f9d8c71b1add6311fe11071383b256fef	Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, short stature, immunodeficiency, and a high incidence of @DISEASE$.	false
+c366582c52658e83dbb60c2f58040d4f828e1e0a	@DISEASE$ (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, @PHENOTYPICFEATURE$, immunodeficiency, and chromosomal instability.	has_symptom
+d2e90c1a2aaf2e09cbd64c690051dc3cb0b5ead7	Nijmegen breakage syndrome (@DISEASE$), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, @PHENOTYPICFEATURE$, immunodeficiency, and chromosomal instability.	has_symptom
+096cbd3ae778a58685bddb440fa5c62dc4399394	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, @DISEASE$, and chromosomal instability.	false
+fdeb649eb742c97343886a560ebc68d5d25523d8	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as @DISEASE$ (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+2bce0ea18d89c036efba90a38b4e2718ce28e586	Nijmegen breakage syndrome (@DISEASE$), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+e7b3eaed818d3406bbf6c00d73b5c6d32c603358	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, @DISEASE$, immunodeficiency, and chromosomal instability.	false
+7282183689cdc0039ce765db111ff7d0422bc79c	@DISEASE$ (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+c334f382a788cb63c462afcc0ec53f4c7c0b9c72	The symptoms of @DISEASE$ including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, @PHENOTYPICFEATURE$, mental retardation, chromosome instability, speech and language delay were present in our case.	has_symptom
+4f4efbc97b3ce6aab651167568dc6a302ab1622b	The symptoms of NBS including congenital microcephaly, mild dysmorphic facial appearance, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, chromosome instability, speech and language delay were present in our case.	false
+99572dba2e7836c922208b3c6faf677e8cd731aa	The symptoms of @DISEASE$ including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, short stature, mental retardation, chromosome instability, @PHENOTYPICFEATURE$ were present in our case.	false
+a18e30aa3ffed99e3f86557ff7c9a0a13e340ef6	The symptoms of NBS including congenital @DISEASE$, mild dysmorphic facial appearance, @PHENOTYPICFEATURE$, short stature, mental retardation, chromosome instability, speech and language delay were present in our case.	false
+b21d1be7e81bce92f9aaf177e89c5977194f7a7c	The symptoms of @DISEASE$ including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, short stature, @PHENOTYPICFEATURE$, chromosome instability, speech and language delay were present in our case.	false
+1fc81c0536d2177c1d341c869524a51381bea267	The symptoms of NBS including congenital microcephaly, mild dysmorphic @DISEASE$ appearance, @PHENOTYPICFEATURE$, short stature, mental retardation, chromosome instability, speech and language delay were present in our case.	false
+6aec3a12e07f1bf2bc8c484d9056fbed3dbdaffb	The symptoms of NBS including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, chromosome instability, speech and language delay were present in our case.	false
+000c7ef1652feab6c2ca8bc74d05e300213a734e	The symptoms of NBS including congenital microcephaly, mild dysmorphic @DISEASE$ appearance, growth retardation, short stature, mental retardation, chromosome instability, @PHENOTYPICFEATURE$ were present in our case.	false
+23822cc0ce64de3afda80286226ff86fcf40a30c	The symptoms of NBS including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, @DISEASE$, mental retardation, chromosome instability, @PHENOTYPICFEATURE$ were present in our case.	false
+3451b6eaf523da791b7cd4c0598e3cff1c974607	The symptoms of NBS including congenital microcephaly, mild dysmorphic @DISEASE$ appearance, growth retardation, short stature, @PHENOTYPICFEATURE$, chromosome instability, speech and language delay were present in our case.	false
+1ee9d678d9efda2d4066a1957bcccf05b78ff77b	The symptoms of NBS including congenital @DISEASE$, mild dysmorphic facial appearance, growth retardation, short stature, mental retardation, chromosome instability, @PHENOTYPICFEATURE$ were present in our case.	false
+232cb6cc3d977486364fed6fd24ef26c5a7c620c	The symptoms of NBS including congenital @DISEASE$, mild dysmorphic facial appearance, growth retardation, short stature, @PHENOTYPICFEATURE$, chromosome instability, speech and language delay were present in our case.	false
+7542b9ba102286c563600fb3644d821ec0975d52	The symptoms of @DISEASE$ including congenital microcephaly, mild dysmorphic facial appearance, @PHENOTYPICFEATURE$, short stature, mental retardation, chromosome instability, speech and language delay were present in our case.	false
+66e87b4932bee5325cb7280c2905cda23036ef17	Videoscopic left cardiac sympathetic denervation for patients with recurrent @PHENOTYPICFEATURE$/malignant ventricular arrhythmia syndromes besides @DISEASE$.	has_symptom
+e043f76fa96981390ce46d33e06d36254d5527df	Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/@DISEASE$ @PHENOTYPICFEATURE$ syndromes besides congenital long-QT syndrome.	false
+f268934905d888e8a31b5250fb5a622754c6a444	Videoscopic left cardiac sympathetic denervation for patients with recurrent @DISEASE$/malignant @PHENOTYPICFEATURE$ syndromes besides congenital long-QT syndrome.	false
+f17ebaa840141f7c6d79540db767d26fc6a8781d	Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/malignant @PHENOTYPICFEATURE$ @DISEASE$ besides congenital long-QT syndrome.	false
+fd9ce8036ec8e9395ba817f4f417b57b85c7ed45	Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/malignant @PHENOTYPICFEATURE$ syndromes besides @DISEASE$.	false
+a7838efc9c9dc22a74133003f4d39b557e72ffc1	SEVERAL FORMS: @DISEASE$ is a clinically (with and without deafness) and genetically (recessive or dominant autosomal inheritance) heterogeneous entity characterized by a long QT interval on the ECG associated with the risk of severe ventricular arrhythmia (torsade de pointes, @PHENOTYPICFEATURE$) and subsequent syncope or sudden death.	has_symptom
+cc24ae046fb9289cf77df2ff8e95e8e3028c0a77	SEVERAL FORMS: @DISEASE$ is a clinically (with and without @PHENOTYPICFEATURE$) and genetically (recessive or dominant autosomal inheritance) heterogeneous entity characterized by a long QT interval on the ECG associated with the risk of severe ventricular arrhythmia (torsade de pointes, ventricular fibrillation) and subsequent syncope or sudden death.	false
+aa30cdc833afb75797e5e4ff81e496cc5bffa9d5	SEVERAL FORMS: Congenital long QT syndrome is a clinically (with and without @PHENOTYPICFEATURE$) and genetically (recessive or dominant autosomal inheritance) heterogeneous entity characterized by a long QT interval on the ECG associated with the risk of severe ventricular arrhythmia (torsade de pointes, @DISEASE$) and subsequent syncope or sudden death.	false
+016de35a710bb784830a4dc6fb3240fa70ebc9e9	SEVERAL FORMS: Congenital long QT syndrome is a clinically (with and without deafness) and genetically (recessive or dominant autosomal inheritance) heterogeneous entity characterized by a long QT interval on the ECG associated with the risk of severe @PHENOTYPICFEATURE$ (torsade de pointes, @DISEASE$) and subsequent syncope or sudden death.	false
+3689ce10704ad974f5208f00f77e03c4308a6fc4	SEVERAL FORMS: @DISEASE$ is a clinically (with and without deafness) and genetically (recessive or dominant autosomal inheritance) heterogeneous entity characterized by a long QT interval on the ECG associated with the risk of severe @PHENOTYPICFEATURE$ (torsade de pointes, ventricular fibrillation) and subsequent syncope or sudden death.	false
+fba9c268005b4e791af0e40ce65dc95eed141dc2	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	has_symptom
+aefd13d2b8b4cea268741d7b3d86d49cb61397be	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	has_symptom
+47d6d4a4f790c640cb87725eb40811085869f2fd	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+926394c86768636d5a394a9628496c9e2ebf1861	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+acdbe5c030802ec3d1211c033859a7567fbc271c	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @DISEASE$, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+65ecb520eedc3f612c802fa92683d5f845a11f2e	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+b7608d04be3f560b5cff581ec03b8d91d4b50168	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+22b2dc1c98b499d88ece4031a9698d62f07fdd8a	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+d3bb9fbf6ffad775e46a4a0c8f13b458f5f4205f	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+2ef64ef5a8cc8892b684d13cf8f8e2ed22bdcbf2	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+25757f1760e20cd3bf1d5885d430633d79e1e570	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+8bd9a6626518e4f138916a223ed447bc77fa5d58	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+767845f4025345c11c7fadf1f1736d68c695dabb	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+1d1c81cd2e23b8e3d64802bcded2c24cf1006545	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+ae50a1d3f8315bcb6196d844d60814a8cb70f3a3	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+51a3e32eb7943bda5be6647872b202e9f3c76d60	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @DISEASE$, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+5b033025f1da3fc1f071c50bae32281505071fae	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+d994df398f26b778e7e0b43c5bd8e0b9d50e89c9	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, @DISEASE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+c6ef651b7179381a1725b8c920ca9e52cfb9d968	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+41822c881263d812d5739a2489d940d69af2d096	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+02fd4c7f8038d8665bf9c7c97e4a99d2543b0556	@PHENOTYPICFEATURE$ (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (@DISEASE$).	has_symptom
+91a2e8f00d2ad48a679d08e35b35857d68e40d21	Exocrine pancreatic insufficiency is one of the recognised features of the @DISEASE$; other features include hypothyroidism, @PHENOTYPICFEATURE$, aplastic alae nasi, developmental delay, and growth retardation.	has_symptom
+5d31f6e7d19f022c94695786cbf97155c097c087	Exocrine pancreatic insufficiency is one of the recognised features of the @DISEASE$; other features include hypothyroidism, sensorineural deafness, aplastic alae nasi, developmental delay, and @PHENOTYPICFEATURE$.	false
+054598546e3d05c5ad43c0d54afd9296a338bd16	Exocrine pancreatic insufficiency is one of the recognised features of the Johanson-Blizzard syndrome; other features include hypothyroidism, @DISEASE$, aplastic alae nasi, developmental delay, and @PHENOTYPICFEATURE$.	false
+20665e40d3e1acabe53f3f2a9715f4e24c0cc4a6	@DISEASE$ is one of the recognised features of the Johanson-Blizzard syndrome; other features include hypothyroidism, sensorineural deafness, aplastic alae nasi, developmental delay, and @PHENOTYPICFEATURE$.	false
+712b1e909d5521c8cef2a9802edcca00dcdcb228	Exocrine pancreatic insufficiency is one of the recognised features of the Johanson-Blizzard syndrome; other features include @DISEASE$, sensorineural deafness, aplastic alae nasi, developmental delay, and @PHENOTYPICFEATURE$.	false
+81a2d79d35d0b6faf689977eafd084b22317a608	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, facial dysmorphism, @PHENOTYPICFEATURE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	has_symptom
+0c69d703577556f08ebd82d06c0b1fe997ed0451	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+8d1ea0eaa3c01679b7fdb0d759a8fcb11d6e75c4	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, @DISEASE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+57bb5cba1828d9b9ea6d6942bc06dfe84fff202c	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+3e0041091926cf51c1e5c6c6be141a50c5eee642	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+9a2182dad4ee44cb42b731e11f928f4e23e30992	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+cd02b9d5862dfeeedd221c4f6111e7e49da52e7b	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, @DISEASE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+94362f6859eb987223934ac29df704c3dac7a995	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, facial dysmorphism, @DISEASE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+c2615462d13c18c81438918bde0f686fb8e7a428	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+a603bf57a4b090a95ca36c77342a31eefda483ad	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+f278d0a163b9d6403682dd7d830c5e8746f58436	@DISEASE$ typically presented with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.	has_symptom
+32da125ceaa642ede71b1d1d13dff4cac2a66339	@DISEASE$ typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, @PHENOTYPICFEATURE$, and other mild dysmorphic features.	false
+b63c31a172f6fc7cf1d6e055b4fdee6247f5d1a6	@DISEASE$ typically presented with global developmental delay, hypotonia, obstructive sleep apnea, @PHENOTYPICFEATURE$, delayed myelination, micrognathia, and other mild dysmorphic features.	false
+c0422a3585d1e26d631c42754776d905fcd77146	Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, delayed myelination, micrognathia, and other mild dysmorphic features.	false
+d0a56994f124d21bf7d0d44650c8507b91c00c15	Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, @DISEASE$, seizures, delayed myelination, @PHENOTYPICFEATURE$, and other mild dysmorphic features.	false
+8a8da4fa2d27a6e537ac06e6eefd1f9492516cb0	The @DISEASE$ presenting as a dominantly inherited cleft palate and @PHENOTYPICFEATURE$.	has_symptom
+63f0573cb0e5eb12d790eb3bddac86c42af9bd15	The Stickler syndrome presenting as a dominantly inherited @PHENOTYPICFEATURE$ and @DISEASE$.	false
+98de62b6cc34a78ea21015e4fa5822eca92858af	The @DISEASE$ presenting as a dominantly inherited @PHENOTYPICFEATURE$ and blindness.	false
+25a12bb32a5b2ed955f99d6a85c5a92c3d09058f	@DISEASE$ is the commonest inherited cause of rhegmatogenous retinal detachment in childhood with a risk of giant retinal tear (GRT) which is commonly bilateral and a frequent cause of @PHENOTYPICFEATURE$.	has_symptom
+ac1587dae44bed4fa89cfc4c8d62683051126271	Herein we report the case of a child affected by @DISEASE$ and @PHENOTYPICFEATURE$, shunted at the age of 3 months, who developed acute respiratory failure due to a right-sided pleural effusion 2 years later.	has_symptom
+752cf91db2fdf496debc3b3df59e44c188361f6c	However, few studies described the pathophysiological growth mechanisms in non-operated infants with fibroblast growth factor receptor (FGFR) type?2 mutation (Crouzon, Apert or @DISEASE$), although these are essential to understanding cranial vault expansion and @PHENOTYPICFEATURE$ treatment in these syndromes.	has_symptom
+3022657970dc0736715345380180c609f7d6cf52	This paper reports sporadic occurrence of the @DISEASE$ with Kleeblattsch?del (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have @PHENOTYPICFEATURE$, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypoplasia of gallbladder, a single umbilical artery, and multiple eye defects.	has_symptom
+d6efb7e319fe7382653fc7075b43054987d787b4	Shunt-dependent @PHENOTYPICFEATURE$ is predominantly associated with Crouzon or @DISEASE$ while in the Apert syndrome the usual finding is nonprogressive ventriculomegaly which, however, may also occur in some cases of Crouzon syndrome.	has_symptom
+88c5d7bad1878b7f8748d30589ea3e6cb1e53198	The common co-existence of @PHENOTYPICFEATURE$ and multiple premature sutural fusion in @DISEASE$ is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and Apert syndrome.	has_symptom
+ac0ec6a025fb65bb92c187c48153078850f62e07	@DISEASE$ has recently been described as an adult onset @PHENOTYPICFEATURE$ associated with a cerebellar cognitive affective syndrome, caused by a heterozygous mutation in the STUB1 gene.	has_symptom
+304a93187e6d06c3a005b0a620525f509f2a0ced	@DISEASE$ presenting with @PHENOTYPICFEATURE$ associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.	has_symptom
+0c89a4dd8e29f2476333b54243a8deff58b18079	@PHENOTYPICFEATURE$ (@DISEASE$) is a rare soft tissue neoplasm generally affecting adolescents and young adults.	has_symptom
+c58a852652214f741e9a01b90c39d6932d19a814	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of osteosarcoma, myxoid liposarcoma, @DISEASE$ and pleomorphic spindle cell sarcoma).	false
+f089050c2703d0f6f59d0ddfe5e9b6c0b1b73b7f	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary @DISEASE$) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of osteosarcoma, myxoid liposarcoma, alveolar soft part sarcoma and pleomorphic spindle cell sarcoma).	false
+100191df4a3b0ea83fffc16b949f3caa50474dc3	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of osteosarcoma, myxoid liposarcoma, alveolar soft part sarcoma and pleomorphic @DISEASE$).	false
+bcf5c11bd30ea864f751ce9171d9f2ea23c3c9ee	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of osteosarcoma, @DISEASE$, alveolar soft part sarcoma and pleomorphic spindle cell sarcoma).	false
+e94d21f6c1014788e2b10279ac6295ea7c11b1ec	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of @DISEASE$, myxoid liposarcoma, alveolar soft part sarcoma and pleomorphic spindle cell sarcoma).	false
+2b09f5d63f0cf15e19416085c3f43b3ae804b2e0	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) @PHENOTYPICFEATURE$, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) @DISEASE$, 1/3 (33%) alveolar soft part sarcoma, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) Ewing sarcoma showed PD-L1 expression.	false
+6d7e4d0354525a915b5410b7decf8ee2b2e39add	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) malignant peripheral nerve sheath tumors, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) @DISEASE$, 1/3 (33%) alveolar soft part sarcoma, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) @PHENOTYPICFEATURE$ showed PD-L1 expression.	false
+9f16da62636c3bb65023c950845dd0580ece006b	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) malignant peripheral nerve sheath tumors, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) extraskeletal myxoid chondrosarcoma, 1/3 (33%) @DISEASE$, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) @PHENOTYPICFEATURE$ showed PD-L1 expression.	false
+fe906d84f78808a0236ff5512802479c0f8c5a0a	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) @DISEASE$, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) extraskeletal myxoid chondrosarcoma, 1/3 (33%) alveolar soft part sarcoma, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) @PHENOTYPICFEATURE$ showed PD-L1 expression.	false
+9e50b7f62d71647f8faefd2eb1482331523d894e	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) @PHENOTYPICFEATURE$, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) extraskeletal myxoid chondrosarcoma, 1/3 (33%) @DISEASE$, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) Ewing sarcoma showed PD-L1 expression.	false
+b9fc80b8581f8f44583f0145e4c8f8d5f528c5f7	A case of @DISEASE$ in a boy of 6 years with bilobal involvement presenting with intermittent abdominal pain, @PHENOTYPICFEATURE$ and hepatomegaly is reported here.	has_symptom
+d4f79fdc99bcefe0007ce6e04714026864296d55	A case of Carolis disease in a boy of 6 years with bilobal involvement presenting with intermittent @PHENOTYPICFEATURE$, @DISEASE$ and hepatomegaly is reported here.	false
+a6caf67d1de6fb2b414f31f5a78011190926ab6b	A case of @DISEASE$ in a boy of 6 years with bilobal involvement presenting with intermittent @PHENOTYPICFEATURE$, fever and hepatomegaly is reported here.	false
+23d6a42c0df7c143827e5887cc5fa2046dc264a4	To elucidate the role and clinical spectrum of congenital lymphocytic choriomeningitis virus infection as a cause of chorioretinopathy, @DISEASE$, and @PHENOTYPICFEATURE$ or microcephaly in the United States.	has_symptom
+e933a10c885fefca0f757d5a067214c1b1b09ad4	To elucidate the role and clinical spectrum of congenital lymphocytic choriomeningitis virus infection as a cause of chorioretinopathy, @DISEASE$, and macrocephaly or @PHENOTYPICFEATURE$ in the United States.	false
+6f1bd08fceb6de885f2603022cf8f6c07690de46	To elucidate the role and clinical spectrum of congenital lymphocytic choriomeningitis virus infection as a cause of chorioretinopathy, congenital hydrocephalus, and @DISEASE$ or @PHENOTYPICFEATURE$ in the United States.	false
+b1c75ff5820b564aca28a4742c22eb4d7a8941f4	Adult-onset autosomal-dominant leukodystrophy (@DISEASE$) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, @PHENOTYPICFEATURE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	has_symptom
+b047d012241f02a107b9e19e504d5f0beb4020b3	@DISEASE$ (ADLD) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, @PHENOTYPICFEATURE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	has_symptom
+0964ecd6fe5ada981fe0d3fce62dd2e4d0cd72db	Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurological disorder characterized by early @PHENOTYPICFEATURE$, @DISEASE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+b04062f64397a48d03ad7d91aebf6d3b88f20aee	Adult-onset autosomal-dominant leukodystrophy (@DISEASE$) is a progressive and fatal neurological disorder characterized by early @PHENOTYPICFEATURE$, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+27a8e7d3af1c295340de4b36fb1622425574c7a4	Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal @DISEASE$ characterized by early @PHENOTYPICFEATURE$, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+752909747aef57b349057612d6a4b903d274b76d	@DISEASE$ (ADLD) is a progressive and fatal neurological disorder characterized by early @PHENOTYPICFEATURE$, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+a91b4928736878a145790f2c8cca221fc936874c	None of @DISEASE$ patients showed a global @PHENOTYPICFEATURE$ but a selective impairment in the executive functions.	has_symptom
+cdc4fd132e09624e935981b795286c0799f6677f	We report an infant with characteristics of @DISEASE$ who had anteverted nostrils, apparently low-set ears, @PHENOTYPICFEATURE$, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	has_symptom
+50b3a69af38466189629d6ca63f1448e5b7ae657	We report an infant with characteristics of @DISEASE$ who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, @PHENOTYPICFEATURE$, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	false
+bfdc4bff39f6f00ecee376f47755a5abc8dcc589	We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, @DISEASE$, high-arched palate, @PHENOTYPICFEATURE$, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	false
+29c188be24a689be982cda8072e426e9a3b50b48	We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched @DISEASE$, @PHENOTYPICFEATURE$, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	false
+f87210e3bf0f5019a26c2c5e36a6043fc9c6fdf7	In this case, liver dysfunction was attributed to Wilson's disease, and @PHENOTYPICFEATURE$ to @DISEASE$.	has_symptom
+5f8a7f374d531961a1cace5dd310a3be404c0af3	We report the case of a 28-year-old female subject affected by the attenuated phenotype of @DISEASE$ characterized by moderate slowly evolving @PHENOTYPICFEATURE$ in which the urinary content of heparan sulfate was demonstrated as being substantially low compared to that found in patients with the severe phenotype.	has_symptom
+cfc6dacf2d5e3f2a9e0b7db243704b2f91bd8847	Global developmental delay and @PHENOTYPICFEATURE$ are associated with X-linked disorders including Hunter syndrome (@DISEASE$) and Fragile X syndrome (FXS).	has_symptom
+ac4d67138f26d51855574851ccf168b90b1a56df	[Type D @DISEASE$ in an 8-year-old boy; a rare cause of @PHENOTYPICFEATURE$].	has_symptom
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	has_symptom
+7b91ec4794fdad09846bf7e57115664932fd5255	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	has_symptom
+3072755021b12f89814ea3ae976b1dd171fd2f0f	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	false
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	false
+bdd46963fa34a9f6a38f3af806f3effe46fdc229	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @DISEASE$, behavioural problems and @PHENOTYPICFEATURE$.	false
+9491f14a48f47343586fa272854c2e177134dc7f	Features matching @DISEASE$ such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, @PHENOTYPICFEATURE$, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	has_symptom
+e8a9de8bbd24b3cc249e988f80ccf89b1eb29e29	Features matching @DISEASE$ such as rapid-onset @PHENOTYPICFEATURE$, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	false
+736f1c62bf19fdbc7adffa3166633733d9258da8	Features matching ROHHAD syndrome such as rapid-onset @PHENOTYPICFEATURE$, alveolar hypoventilation, central hypothyroidism, @DISEASE$, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	false
+0fcf4d50f4d5a0c4e9b3c2119f6d82f9b468217d	Features matching ROHHAD syndrome such as rapid-onset @PHENOTYPICFEATURE$, alveolar hypoventilation, @DISEASE$, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	false
+7b4fc11f1a5046733f7cf8ee3b4dfc238d9a2ced	A 7-year-old girl with @DISEASE$ who had central hypoventilation, rapid weight gain, multiple cardiac arrests and @PHENOTYPICFEATURE$.	has_symptom
+df844524a2a1a9bb0b86727ac4d5e432f39002ec	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	has_symptom
+5373d64a56cd03d3fa5d9900405d70caad1f08be	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, @DISEASE$, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+5705f7cc4d58569f925cc79dde21983bf6700648	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+72cbde355c5f71624819013f84e5da7cd8c4c668	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @DISEASE$.	false
+dbbf9d581ab56f95803442584596bf93c4e64a3c	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @DISEASE$.	false
+f713305d137b0a350ce84ac6e4e44ab12a4fe213	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, @DISEASE$, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+6a08771cdc409c1f8a3ceda909f8724539928683	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+359405cc2578fdfe22a1a950892a8eb349ee1d18	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+7f2c00daeec933236ba462defad1d1c36523fb2d	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+cc236127c865deb7fa3f86380b1b5a77126bff72	Use of miglustat in a child with late-infantile-onset @DISEASE$ and frequent @PHENOTYPICFEATURE$: a case report.	has_symptom
+4ae63a2f2a2c053595094b70ece729ede6d936e2	We describe the case of a 16-year-old white French boy with late-infantile-onset @DISEASE$ who had the unusual presentation of early-onset behavioral disturbance and learning difficulties (aged 5) alongside @PHENOTYPICFEATURE$.	has_symptom
+9b386644f478aab874ee68b753f405aaf6de9e97	We treated patients with @DISEASE$ by oral administration of DMSO, resulting in some clinical benefits such as decreased size of hepatosplenomegaly, and lesser frequency of @PHENOTYPICFEATURE$ with improved EEG.	has_symptom
+fbabf13fb8cc0b4c33d64ab6f67ab448932940b7	Based on our findings in this patient and previous published data, we discuss the importance of effective @PHENOTYPICFEATURE$ control in neurological improvement in @DISEASE$, and the relevance of cerebellar involvement as a possible link between these clinical phenomena.	has_symptom
+ba2ffffac3cc92cad089d4891a0af52fbbfedbd9	@DISEASE$ (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and @PHENOTYPICFEATURE$.	has_symptom
+b91cdf4776977bbf3a3897c40fa8a113d11a2888	@DISEASE$ (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, @PHENOTYPICFEATURE$, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures.	false
+f558ab9015bb8cae75a359fa5840b9f66d463dbf	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral @DISEASE$ that leads to variable symptoms that include cognitive decline, @PHENOTYPICFEATURE$, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures.	false
+7674adcc9b6c22ae5b6749d7ddac87e6b4b44e83	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, @PHENOTYPICFEATURE$, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures.	false
+2b932e1ceb9004ab0a485aba00693077e008c76d	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, @PHENOTYPICFEATURE$, @DISEASE$, cataplexy, vertical supranuclear gaze palsy, and seizures.	false
+cc854afa3d32f2494cffdcd3c61ffd7ba91f88c7	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, @PHENOTYPICFEATURE$, dystonia, cataplexy, vertical supranuclear gaze palsy, and @DISEASE$.	false
+c927ac68c8fe7dbe43d5f19ba093d7e897a25981	Infants with acute hydrocephalus often present with nonspecific neurological signs, and cystic choroid plexus papilloma (@DISEASE$) is a very rare cause of acute obstructive @PHENOTYPICFEATURE$.	has_symptom
+2a4459c4541ee85be13be848175fc74e026ac962	Infants with acute @PHENOTYPICFEATURE$ often present with nonspecific neurological signs, and cystic choroid plexus papilloma (@DISEASE$) is a very rare cause of acute obstructive hydrocephalus.	has_symptom
+5705f7cc4d58569f925cc79dde21983bf6700648	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	has_symptom
+ac43749e471bcfa3d517ee5bfd59c488abe501a7	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+f713305d137b0a350ce84ac6e4e44ab12a4fe213	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, @DISEASE$, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+6a08771cdc409c1f8a3ceda909f8724539928683	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+df844524a2a1a9bb0b86727ac4d5e432f39002ec	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+9f5e9ba194547dfe822fce94993afcefda7377ce	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@DISEASE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+6ec354297b4a00673058b14b4e9bec363724702e	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (@DISEASE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+d7d96b696fb946f4882b5d23cd79c14b52fe0d4c	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, @DISEASE$, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+7f2c00daeec933236ba462defad1d1c36523fb2d	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+a00a390b65f81b55f87ea8660d703cd09584877a	The patient subsequently developed typical neurological symptoms of early-infantile @DISEASE$, including vertical supranuclear ophthalmoparesis and @PHENOTYPICFEATURE$.	has_symptom
+acb763133977fb9ef805d919299b03bf58f22d09	@DISEASE$ (NPC) is an intractable disease that is accompanied by @PHENOTYPICFEATURE$, dystonia, neurodegeneration, and dementia due to an NPC gene defect.	has_symptom
+cbe7c01eb523a715a299f2d38a71a78a006815f9	@DISEASE$ (NPC) is a progressive neurovisceral disorder associated with dystonia, @PHENOTYPICFEATURE$ and a characteristic gaze palsy.	has_symptom
+8e746bedca55f8f701550aed083309da0263823b	A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some entities (abetalipoproteinaemia, @PHENOTYPICFEATURE$ with vitamin E deficiency, Refsum disease, cerebrotendinous xanthomatosis, @DISEASE$, Wilson disease).	has_symptom
+b91cdf4776977bbf3a3897c40fa8a113d11a2888	@DISEASE$ (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, @PHENOTYPICFEATURE$, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures.	has_symptom
+9a20333931e1cd3000d73bde5a3140ddd12121ef	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, @DISEASE$, cataplexy, vertical supranuclear gaze palsy, and @PHENOTYPICFEATURE$.	false
+1e5cdbc1c751ec1a0d7fd22ec1f0113e2176410a	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral @DISEASE$ that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and @PHENOTYPICFEATURE$.	false
+ba2ffffac3cc92cad089d4891a0af52fbbfedbd9	@DISEASE$ (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and @PHENOTYPICFEATURE$.	false
+c38763321a7ba4831394c851ecef8a55a270327a	Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, @DISEASE$, dystonia, cataplexy, vertical supranuclear gaze palsy, and @PHENOTYPICFEATURE$.	false
+218a9482c8bb5f1a5af74357088504cd9161812f	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and @PHENOTYPICFEATURE$.	false
+f73a2fbe3490aef3d41ab23fd9924cc55eb6fb43	A 2-month-old infant presented recurrent fever, @PHENOTYPICFEATURE$, and hepatosplenomegaly mimicking @DISEASE$ (HLH) or juvenile myelomonocytic leukemia (JMML).	has_symptom
+06173e9de792c13eb083045f38292909a848393a	Recently, an unusual subtype of large B-cell lymphoma (LBCL) with distinctive clinicopathologic features has been recognized; it is characterized by involvement of bone marrow with or without liver and/or spleen, but no lymph node or other extranodal sites, usually associated with fever, @PHENOTYPICFEATURE$, and @DISEASE$ (HLH).	has_symptom
+c88bf002a6ff18462aca545c4ff3e9234e38051d	Recently, an unusual subtype of large @DISEASE$ (LBCL) with distinctive clinicopathologic features has been recognized; it is characterized by involvement of bone marrow with or without liver and/or spleen, but no lymph node or other extranodal sites, usually associated with @PHENOTYPICFEATURE$, anemia, and hemophagocytic lymphohistiocytosis (HLH).	false
+e12b407d597d6e262aa7bb12f47cae840e455b41	Recently, an unusual subtype of large B-cell lymphoma (LBCL) with distinctive clinicopathologic features has been recognized; it is characterized by involvement of bone marrow with or without liver and/or spleen, but no lymph node or other extranodal sites, usually associated with @PHENOTYPICFEATURE$, anemia, and @DISEASE$ (HLH).	false
+cb272b8e1354961f179f6543629078364225f220	Recently, an unusual subtype of large B-cell lymphoma (LBCL) with distinctive clinicopathologic features has been recognized; it is characterized by involvement of bone marrow with or without liver and/or spleen, but no lymph node or other extranodal sites, usually associated with @PHENOTYPICFEATURE$, @DISEASE$, and hemophagocytic lymphohistiocytosis (HLH).	false
+712b8f6fe71295087501feb24ee208c6a382d6dd	@PHENOTYPICFEATURE$ and/or language delay was found among 42% of the children with Usher syndrome and among 82% of the children with @DISEASE$.	has_symptom
+a28605d588a06011299833d64dcb3bafd7339a38	Intellectual disability and/or @PHENOTYPICFEATURE$ was found among 42% of the children with @DISEASE$ and among 82% of the children with CHARGE syndrome.	false
+5ce1ef98536ea10cbbd8301226bda590810a1f3b	@DISEASE$ and/or @PHENOTYPICFEATURE$ was found among 42% of the children with Usher syndrome and among 82% of the children with CHARGE syndrome.	false
+ce153df271a898b7e4f208e0d39f1da8a02c3ef9	Intellectual disability and/or @PHENOTYPICFEATURE$ was found among 42% of the children with Usher syndrome and among 82% of the children with @DISEASE$.	false
+8a324084c510a0a135bedfcb72d6543058bba4cb	Early medical reports describing @PHENOTYPICFEATURE$ in @DISEASE$ have not used convincing means to assess this attribute.	has_symptom
+29840f709966a22e4050de5bd49d323e2896df48	In the dysplastic group, two children suffered from @DISEASE$, another two from @PHENOTYPICFEATURE$, and two children grew up in bilingual homes.	has_symptom
+ec46b7dc5d10ba8f21b6b3708d0f851446c953e0	This boy was known to have @DISEASE$ with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and @PHENOTYPICFEATURE$, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and hydrocephalus.	has_symptom
+1ed61163c2f67395bcc66a0193b46e3bec29329b	This boy was known to have CHARGE syndrome with multiple @DISEASE$, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and @PHENOTYPICFEATURE$.	false
+d87a4d68c05a8c61e3d0388ed61368564477a01c	This boy was known to have @DISEASE$ with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and @PHENOTYPICFEATURE$.	false
+66b927f4d5605284edc32c010d0a74143d2edb76	This boy was known to have CHARGE syndrome with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and @DISEASE$, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and @PHENOTYPICFEATURE$.	false
+94594e9231abd5707f65acf92b90ad0f44110399	This boy was known to have CHARGE syndrome with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral cryptorchidism, dysplasia of the right ear, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6584854a0027fa7d6600e117dc2e5ea6e28d68d9	This boy was known to have CHARGE syndrome with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral @DISEASE$, dysplasia of the right ear, cleft lip, and @PHENOTYPICFEATURE$.	false
+2ae32a01083498219a53d01918b6e0458f09be4d	Neurodevelopmental defects and a range of neurological signs have been identified in individuals with @DISEASE$, including developmental delay, lack of coordination, @PHENOTYPICFEATURE$, and autistic traits.	has_symptom
+ac24e6561010d032f988e96d49241ffc73ecb8e1	This was possibly due to the high proportion of disabilities detected in the dysplastic group, such as @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0eef94554fc9cb4797dfdf7bd3a693d8ec3902c4	CHD7 variants are a well-established cause of @DISEASE$, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and @PHENOTYPICFEATURE$.	has_symptom
+1e220103fbaedcaf49c21450c207f6c0938b8f18	CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with @PHENOTYPICFEATURE$, visual impairment and @DISEASE$.	false
+1fa819578778db7b96438f78d8d4ef844a73d837	CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3e86d8fae0d28607514fb5f354fc4e153773357a	CHD7 variants are a well-established cause of @DISEASE$, a disabling multi-system malformation disorder that is often associated with deafness, @PHENOTYPICFEATURE$ and intellectual disability.	false
+b3003262a323c23c90adb0b59e3ba21d9a1dcb4e	CHD7 variants are a well-established cause of @DISEASE$, a disabling multi-system malformation disorder that is often associated with @PHENOTYPICFEATURE$, visual impairment and intellectual disability.	false
+83e48822379c3f1527d36355540478c699f387a3	@DISEASE$ is a rare congenital condition that manifests with anomalies of coloboma, heart defects, choanal atresia, @PHENOTYPICFEATURE$, genitourinary and ear anomalies that can affect almost any part of the auditory pathway.	has_symptom
+8aa045583b8dedea103630d32a8fbccacf165e0e	CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, heart defects, choanal atresia, @DISEASE$, genitourinary and @PHENOTYPICFEATURE$ that can affect almost any part of the auditory pathway.	false
+6f6df9970009d600cff534552e53247a88dcec8f	@DISEASE$ is a rare congenital condition that manifests with anomalies of coloboma, heart defects, choanal atresia, mental retardation, genitourinary and @PHENOTYPICFEATURE$ that can affect almost any part of the auditory pathway.	false
+2e5ad9c314c533501b196952dc934045b662d589	@DISEASE$ is a rare congenital condition that manifests with anomalies of coloboma, @PHENOTYPICFEATURE$, choanal atresia, mental retardation, genitourinary and ear anomalies that can affect almost any part of the auditory pathway.	false
+9861f33d0b6d1c86b9ca3fd22ed3eb952552d33c	CHARGE syndrome is a rare congenital condition that manifests with anomalies of @DISEASE$, heart defects, choanal atresia, mental retardation, genitourinary and @PHENOTYPICFEATURE$ that can affect almost any part of the auditory pathway.	false
+7314363e7d153e2323d3af5866da6f0d8c9ce8c1	CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, heart defects, @DISEASE$, mental retardation, genitourinary and @PHENOTYPICFEATURE$ that can affect almost any part of the auditory pathway.	false
+95e6fca91772056c8ba604cbe21da6639cb1a0ed	CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, @PHENOTYPICFEATURE$, choanal atresia, @DISEASE$, genitourinary and ear anomalies that can affect almost any part of the auditory pathway.	false
+a82a83ad6f28ed4cc1cf3c7f6ce111d6a734d738	CHARGE syndrome is a rare congenital condition that manifests with anomalies of @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, mental retardation, genitourinary and ear anomalies that can affect almost any part of the auditory pathway.	false
+4bae5fd7f834807e8f152cd46ba56c9c638f6ffb	CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, genitourinary and ear anomalies that can affect almost any part of the auditory pathway.	false
+87abe2907d1c2312bff8340e30ceb0d1c30f9f4b	The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of @DISEASE$, developmental delay and @PHENOTYPICFEATURE$, and cerebellar hypoplasia.	has_symptom
+41b289488cc36100566abd7e71ddc00c25c93407	The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and @DISEASE$, and @PHENOTYPICFEATURE$.	false
+7a070ee0f3ce269aec9949c25145c70b3a00d076	The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of @DISEASE$, developmental delay and intellectual disability, and @PHENOTYPICFEATURE$.	false
+8dc3108563b76ea8ac69c50bda5e7f52357a382d	Finally, the combination of malformations in @DISEASE$ strongly supports the view that this multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.	has_symptom
+9006021f84f84860deda7916622730b47b2bced0	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	has_symptom
+d45da11a8fc27217b198478e9cc203486181d74c	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+e945d660e3e883f329b6c893924306de492aea5b	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+bc68425294552ab5e8395f39488be65606c37f73	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+6616ac2a0d3d21e328b873bf43deb6dadd0af607	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+33cd8d172e69805c44734785db357cd565dc5670	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+671bbefee159d599855b96290a768f2ca8ed70cf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+6a79dc1f275628f681a3af9ccbf8ee7f73100fd7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+17109ccb34d6eb59020800f6f9dc9a5f09bd8a26	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+2927990a9e4527ae780fc48b26209a1ebc5c1f2a	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+9f153d79211958dab45a47f33d9603342602ba2e	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f906bd9d526034c06477694c220c1c404a575c69	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+c561a378150fb1ef33da6e3ec3bfa8e661043aed	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f870fd04de78d06add068417e7db8a8712cb3681	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+b53b52a56572e3bba189525dde2dedf8e67f7eb0	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+5d30f3e99f5ae10aa4cd8c576d1b30dcaed7601d	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+58221cb265ea3f47d25d1f4b66dcf607877d2945	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f576863f3a36c7660e25de6d10275939e3b5e7fd	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+2fcb2853aae3f64796ae8c208608acbdda31d30e	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+d213d8567e34b47ff82122df688b8e23a68be1c4	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+cb751882805d6a0b4558f7b14308e9c5943a96c8	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+a075e2bc7cca8d7f6e4f2870520b833a5687adaf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+aa71b2d034a185a7a89b119634e36f033ffb0953	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+4ac957e6f5ea5210bd25d76d5f0d27df4ff4b6d7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+0439960325cfed22f45983f65556f30a55450758	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+c808eff999557b2a72fd52023404d145deaa2f52	The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (@DISEASE$), nephronophtisis, cone-shaped epiphyses of the hand and @PHENOTYPICFEATURE$ (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy.	has_symptom
+fb51aee1c936062e742692f4157a678542e75c9d	Some children present with extrarenal symptoms: tapetoretinal degeneration (@DISEASE$), mental retardation, @PHENOTYPICFEATURE$, bone anomalies or liver involvement.	has_symptom
+c05edb3aa3310abd334b949078894a0d977a922c	Some children present with extrarenal symptoms: tapetoretinal degeneration (@DISEASE$), @PHENOTYPICFEATURE$, cerebellar ataxia, bone anomalies or liver involvement.	false
+7baf6ba1e2925ffdf76678672b133a6595e6ac0a	Some children present with extrarenal symptoms: tapetoretinal degeneration (Senior-Loken syndrome), @PHENOTYPICFEATURE$, @DISEASE$, bone anomalies or liver involvement.	false
+6c4040eae952c2bbcad48fa20cac0ae4b5b0ad73	@PHENOTYPICFEATURE$ and @DISEASE$ were more severe in AL than AA amyloidosis (p=0.0836).	has_symptom
+ddd36809652df93c41af88f3131794a3da6a10b7	Two children with congenital fibroelastosis and recurrent episodes of heart failure had overt @PHENOTYPICFEATURE$ and hematuria; one also had a reversible @DISEASE$.	has_symptom
+e4159c0f5f882f0e0eec03b057f2c428a562a436	Two children with congenital fibroelastosis and recurrent episodes of @PHENOTYPICFEATURE$ had overt proteinuria and hematuria; one also had a reversible @DISEASE$.	false
+e02db0e3fc84efb0d0af6f9de7251f5a6ccdfa1c	Two children with congenital fibroelastosis and recurrent episodes of @PHENOTYPICFEATURE$ had overt @DISEASE$ and hematuria; one also had a reversible nephrotic syndrome.	false
+ce339c7c82fd8879483fe5f19dbc8f11478f6858	Two children with congenital fibroelastosis and recurrent episodes of heart failure had overt @DISEASE$ and @PHENOTYPICFEATURE$; one also had a reversible nephrotic syndrome.	false
+2271fdbdfd506a125c4d7e2482f69f090c17dee3	Two children with congenital fibroelastosis and recurrent episodes of heart failure had overt proteinuria and @PHENOTYPICFEATURE$; one also had a reversible @DISEASE$.	false
+8235e092db3d09c7926e02b82b1279e4885ea807	After transplantation, all patients had early @PHENOTYPICFEATURE$ and the 4 grafts surviving beyond 3 months developed recurrent glomerular lesions with severe @DISEASE$ and progression to graft failure.	has_symptom
+1056965aafc0646bb57bcc6616d87505f8b77412	@PHENOTYPICFEATURE$ and @DISEASE$ in adults and children	has_symptom
+531204a14fd84fd00b6751ba23ed2c7bfc8a08e4	@PHENOTYPICFEATURE$ and @DISEASE$ due to recurrent disease may develop after renal transplant in patients with focal glomerular sclerosis (FGS).	has_symptom
+201c2ff27f34b8643aa1d495432d1e54af2d8e0f	@PHENOTYPICFEATURE$ and/or haematuria, which occurred in 34.2%, of which only one fifth were in association with nephritic or @DISEASE$, developed in 85% of cases within 4 weeks of the diagnosis of HSP, in 91% within 6 weeks, and in 97% within 6 months.	has_symptom
+9deeb89f2a3ed261012289e03a92efa706609a73	@PHENOTYPICFEATURE$ and @DISEASE$ were more severe in cases of amyloidosis AL than in amyloidosis AA (p = 0.076).	has_symptom
+264de841ddd367a224cc684840fc3f8a3207c9af	The case illustrates an oral contraceptive associated renal vein thrombosis in the absence of either inferior vena cava thrombosis, bilateral @PHENOTYPICFEATURE$, or the @DISEASE$.	has_symptom
+1dab3498da2ffb5ecce1fbab25e7745999b92c8f	The results provide further support to the notion that PTPN11 mutations are responsible for the development of @DISEASE$ in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory @PHENOTYPICFEATURE$ and bleeding diathesis, can also result from mutations of PTPN11.	has_symptom
+93858d8db688f8ab7aa50c2c581de3c4be95f945	The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of @DISEASE$, such as sensory @PHENOTYPICFEATURE$ and bleeding diathesis, can also result from mutations of PTPN11.	has_symptom
+794ae55ac8536d7412b200b03bee13ef4235c718	Patients with @DISEASE$, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, @PHENOTYPICFEATURE$, visual problems, cryptorchidism, clotting disorders, and short stature.	has_symptom
+d0741595e086ddca0338ba53f0ed4151a668dc6e	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable @PHENOTYPICFEATURE$ together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, @DISEASE$, clotting disorders, and short stature.	false
+adfb01c47ab90b822dcdbf4de3799001d8483384	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, @DISEASE$, clotting disorders, and @PHENOTYPICFEATURE$.	false
+f06e4c7b52752c5a543986f9b7b4d7f0ecded930	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, @DISEASE$, visual problems, cryptorchidism, clotting disorders, and @PHENOTYPICFEATURE$.	false
+8423c06fa6f7aaff47d550171acfafb75014bde5	Patients with Noonan syndrome, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable @PHENOTYPICFEATURE$ together with features such as pulmonary valvular stenosis, dysmorphism, @DISEASE$, visual problems, cryptorchidism, clotting disorders, and short stature.	false
+0fee43b1a66bacfe69d5af6d9f08c59c3caf97e5	Patients with @DISEASE$, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable hypogonadism together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, cryptorchidism, clotting disorders, and @PHENOTYPICFEATURE$.	false
+07dc7fc95f34ceda278e3a96ff95addeba3715c2	Patients with @DISEASE$, which is thought to have an incidence of 1 : 1,000 to 1 : 2,500 live births, have variable @PHENOTYPICFEATURE$ together with features such as pulmonary valvular stenosis, dysmorphism, deafness, visual problems, cryptorchidism, clotting disorders, and short stature.	false
+fa00845b231068e744350ac3c911b77caab34e4b	Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, congenital Heart defects, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or @PHENOTYPICFEATURE$), 1 met criteria for @DISEASE$, and one had features of both these syndromes.	has_symptom
+33d822718833740ba4cf199af8b4d7ee062efa26	Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, @PHENOTYPICFEATURE$, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for @DISEASE$, and one had features of both these syndromes.	false
+a2e9e58350fce26f6d6882f0f4903c29bc622a72	Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (Coloboma of the eye, @PHENOTYPICFEATURE$, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or @DISEASE$), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes.	false
+5da88ba3bbff8d334be36a6e87636e664be31070	Of the 15 identified patients, 4 were nonsyndromic, 9 had CHARGE association (@DISEASE$, @PHENOTYPICFEATURE$, choanal Atresia, mental and/or growth Retardation, Genital hypoplasia, and Ear anomalies and/or deafness), 1 met criteria for Noonan's syndrome, and one had features of both these syndromes.	false
+78e3e1bfad1c200e2c3c5b72952f6a373ccac86c	LS shares many features with @DISEASE$ (NS), in which lentigines and @PHENOTYPICFEATURE$ are usually not present.	has_symptom
+843fe4a8a7694714b99b313c8b4d5b207e8aceac	@DISEASE$ is a mostly autosomal dominant inherited disorder, which can be accompanied by hearing disorders or @PHENOTYPICFEATURE$, coagulation disorders, combined heart defects and developmental disorders.	has_symptom
+0fa675257d5a8a260e3dbd75f82cc05aaf641bec	Noonan syndrome is a mostly autosomal dominant inherited disorder, which can be accompanied by hearing disorders or @DISEASE$, coagulation disorders, combined @PHENOTYPICFEATURE$ and developmental disorders.	false
+33f354d6ffc37633de31ac86a5d0eb9687ed647a	Noonan syndrome is a mostly @DISEASE$, which can be accompanied by hearing disorders or deafness, coagulation disorders, combined @PHENOTYPICFEATURE$ and developmental disorders.	false
+414b1e56c68df8e15606c37d1a9f283965d55eaf	Noonan syndrome is a mostly autosomal dominant inherited disorder, which can be accompanied by @DISEASE$ or deafness, coagulation disorders, combined @PHENOTYPICFEATURE$ and developmental disorders.	false
+2a23224135bd67f4bdb445652159111739702f4e	@DISEASE$ is a mostly autosomal dominant inherited disorder, which can be accompanied by hearing disorders or deafness, coagulation disorders, combined @PHENOTYPICFEATURE$ and developmental disorders.	false
+4186e6baa848f19de0d9f795e518434bcdc5bae7	Noonan syndrome is a mostly autosomal dominant inherited disorder, which can be accompanied by hearing disorders or deafness, @DISEASE$, combined @PHENOTYPICFEATURE$ and developmental disorders.	false
+c5c10df2918caf5dae0d6592e8ed2f0148c26e93	We have generated iPSCs from patients with LEOPARD syndrome (an acronym formed from its main features; that is, lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and @PHENOTYPICFEATURE$), an autosomal-dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-mitogen-activated protein kinase signalling diseases, which also includes @DISEASE$, with pleomorphic effects on several tissues and organ systems.	has_symptom
+0774243c220e74232cf054f59184b9f60cde45c8	We have generated iPSCs from patients with LEOPARD syndrome (an acronym formed from its main features; that is, lentigines, electrocardiographic abnormalities, @PHENOTYPICFEATURE$, pulmonary valve stenosis, abnormal genitalia, retardation of growth and @DISEASE$), an autosomal-dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-mitogen-activated protein kinase signalling diseases, which also includes Noonan syndrome, with pleomorphic effects on several tissues and organ systems.	false
+a3f205f1e044fd35fcc844ed6022dbc33501cf14	We have generated iPSCs from patients with LEOPARD syndrome (an acronym formed from its main features; that is, lentigines, electrocardiographic abnormalities, @PHENOTYPICFEATURE$, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness), an autosomal-dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-mitogen-activated protein kinase signalling diseases, which also includes @DISEASE$, with pleomorphic effects on several tissues and organ systems.	false
+fe6bb68e7560471c8bf3a12aee53f808b2e05f22	We have generated iPSCs from patients with @DISEASE$ (an acronym formed from its main features; that is, lentigines, electrocardiographic abnormalities, @PHENOTYPICFEATURE$, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness), an autosomal-dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-mitogen-activated protein kinase signalling diseases, which also includes Noonan syndrome, with pleomorphic effects on several tissues and organ systems.	false
+e5430e0d77060cebbae775f2948149abf34f87bd	Surprisingly, the patient showed some additional features such as positive wrist and thumb signs, @PHENOTYPICFEATURE$ deformity and plain flat feet, suggestive of @DISEASE$.	has_symptom
+5c48f2641e2ff1bc1f9bb052e3572f1d2fa34ec8	To evaluate the curative effect and clinical application of hepatic arterial infusion (HAI) chemotherapy combined with endogenetic field tumor @PHENOTYPICFEATURE$ (EFTH) in patients with @DISEASE$.	has_symptom
+85a5a20132092f41d95b6c1b3aeba3b17522d159	To evaluate the curative effect and clinical application of hepatic arterial infusion (HAI) chemotherapy combined with endogenetic field @PHENOTYPICFEATURE$ hyperthermia (EFTH) in patients with @DISEASE$.	false
+3ad568781bc439ec855f4ad5d6e72ff1dbbd869f	To evaluate the curative effect and clinical application of hepatic arterial infusion (HAI) chemotherapy combined with endogenetic field @PHENOTYPICFEATURE$ @DISEASE$ (EFTH) in patients with hilar cholangiocarcinoma.	false
+817b6d586308548cc81b95b8ef05f5238841c88e	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial @PHENOTYPICFEATURE$, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	has_symptom
+fa44278bcfd2302ebf77f2ea5256350825f1875b	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, @PHENOTYPICFEATURE$, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+e834d00d666a1d64a09ced8d36f27f28bfcdc9eb	We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial @DISEASE$, and @PHENOTYPICFEATURE$ with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+bddfac464ec104fb85650dd228274e5123d7b0e6	We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, @PHENOTYPICFEATURE$, hypertelorism, a broad and tall forehead, medial @DISEASE$, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+5f4a574cbe82ad8922d69bcb18d48c1a03e3e077	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and @PHENOTYPICFEATURE$ with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+fb3c15d9202dcc2fddea2c4ea16f581faa9ae622	We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, @PHENOTYPICFEATURE$, a broad and tall forehead, medial @DISEASE$, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+01f26989faa45e1e21c3c2d9657899ac683f8d95	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, @PHENOTYPICFEATURE$, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+29263c90549b7d259f2606732339ecad9346af3b	Corpus callosotomy (CC) is a palliative surgical procedure to control atonic, tonic, or @PHENOTYPICFEATURE$ in @DISEASE$ (LGS).	has_symptom
+18323706c451fef9850a24bba7525a9575d7253d	Corpus callosotomy (CC) is a palliative surgical procedure to control atonic, tonic, or @PHENOTYPICFEATURE$ in Lennox-Gastaut syndrome (@DISEASE$).	has_symptom
+9ef14f090af905b90aa3fc0991636de39cb1471b	Best results are obtained in non-focal @PHENOTYPICFEATURE$ and atypical absences of the @DISEASE$.	has_symptom
+24dbba9964e7f122359ffe7d1bcedf1cc077574c	Topiramate has also been shown to be superior in efficacy to placebo in well controlled trials in patients with @PHENOTYPICFEATURE$, @DISEASE$ and in paediatric patients with partial epilepsy.	has_symptom
+bb3422515d1d89c07ca3d6e83ede5fe9212e2bd9	Clinical studies are currently evaluating the effectiveness and safety of topiramate as monotherapy and adjunctive therapy in children with partial seizures, in patients with @DISEASE$ and in patients with @PHENOTYPICFEATURE$ of non-focal onset.	has_symptom
+bd17d0348631a267e92ef9335e3d6567423aef53	When tested against placebo in an add-on, randomized, double-blind trial in 73 children with @DISEASE$, FBM significantly reduced the frequencies of astatic (atonic) seizures and @PHENOTYPICFEATURE$ plus total seizure counts.	has_symptom
+ea6c44b3045d88867faf2ca4800677dae44d311a	When tested against placebo in an add-on, randomized, double-blind trial in 73 children with LGS, FBM significantly reduced the frequencies of astatic (atonic) seizures and @DISEASE$ plus total @PHENOTYPICFEATURE$ counts.	false
+8751585c39ce59e53c04cef100c1b022e611f5b2	When tested against placebo in an add-on, randomized, double-blind trial in 73 children with LGS, FBM significantly reduced the frequencies of astatic (atonic) @PHENOTYPICFEATURE$ and @DISEASE$ plus total seizure counts.	false
+3893da9f1e82716fd2ff7dc99ce1a814c6e00358	When tested against placebo in an add-on, randomized, double-blind trial in 73 children with @DISEASE$, FBM significantly reduced the frequencies of astatic (atonic) seizures and generalized tonic-clonic seizures plus total @PHENOTYPICFEATURE$ counts.	false
+2cef84204408455f4fe4e92fd59fe3e85960dc3b	When tested against placebo in an add-on, randomized, double-blind trial in 73 children with @DISEASE$, FBM significantly reduced the frequencies of astatic (atonic) @PHENOTYPICFEATURE$ and generalized tonic-clonic seizures plus total seizure counts.	false
+8ae72a3de23320c3e714a1bbb015fb7e234b48dc	(4) concomitant @PHENOTYPICFEATURE$ of sleep or diffuse (other than awakening) type (5) psychological disturbances (low intelligence, circuitous character) and (6) chronological shift to the @DISEASE$.	has_symptom
+6df54c34ecc50b3a917891b0ff71590343253d35	Controlled studies are ongoing in patients with absence seizures, in patients with @PHENOTYPICFEATURE$, and in patients with @DISEASE$.	has_symptom
+efb260bec08d49cc129a7acaf250bb04f5baa4be	Controlled studies are ongoing in patients with @PHENOTYPICFEATURE$, in patients with @DISEASE$, and in patients with Lennox-Gastaut syndrome.	false
+e865eeef37dc74b6017847532b5b2af83bc77026	Controlled studies are ongoing in patients with @PHENOTYPICFEATURE$, in patients with generalized tonic-clonic seizures, and in patients with @DISEASE$.	false
+669b2926afb8d7a2453505aa334a1fea483a7c99	Vitamin VB(6)-responsive seizures or epilepsy were usually West syndrome (WS), however may also include @DISEASE$, @PHENOTYPICFEATURE$ or partial motor seizures.	has_symptom
+5c207171462ee11822ac0f238acfb43dddd3323a	Vitamin VB(6)-responsive @PHENOTYPICFEATURE$ or epilepsy were usually West syndrome (WS), however may also include Lennox-Gastaut syndrome, @DISEASE$ or partial motor seizures.	false
+62c07a83d98fb3ea86153dc5da7366026d0ad1b1	Vitamin VB(6)-responsive @PHENOTYPICFEATURE$ or epilepsy were usually West syndrome (WS), however may also include @DISEASE$, grand mal or partial motor seizures.	false
+5e81c64e426c518dde849107ae1159886b251717	Valproate was the treatment of choice for myoclonic, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+99d27039adc340c7f7d7ae40e5801b7490f99bd6	Only felbamate has been evaluated in a randomized controlled study in children, in which it has proven beneficial against astatic and @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+5cc6ef033fd0b2bc6d2e8b12de78840de200a169	Hurler syndrome is the most severe form of @DISEASE$ (MPS) Type 1. Progressive neurocognitive decline in this condition can be accompanied by @PHENOTYPICFEATURE$, ventriculomegaly, and/or periventricular signal changes on MRI, which often leads to a neurosurgical referral.	has_symptom
+54844ac86e619b45aec86ef39f25aed17bc69b77	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	has_symptom
+c5f7f5c219841745737433de5bf4167a59f3245a	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	false
+a0903f2ff8a107c242951738f99b9c100f19f1e0	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+35eb4dfe5e83776885c7ed86c10a6231a9ba1cb2	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, @DISEASE$, short stature, and craniofacial anomalies.	false
+688e30a291698c62345b9726ed8fc6d88bf1ab28	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @DISEASE$, and craniofacial anomalies.	false
+4c50c7c7fe63bcecee79bfc7442e790e39ff809d	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a @DISEASE$ syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+308ff64ffa3c98a1af950c3dc0648f077884b88a	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$, and craniofacial anomalies.	false
+7beefc50b882d4c15c3bee644f2ef423878a2dc6	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a @DISEASE$ syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	false
+57e9ff939277e260bd18eaff7b92a530c2c45ddf	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare @DISEASE$ comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+c33c790a0f4f05c3437932566e203e0380373110	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, @DISEASE$, short stature, and craniofacial anomalies.	false
+724e5b98a3af77ced2153bb0fd0e5ed4b6589968	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare @DISEASE$ comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	false
+4c8b1d8fd86353651c4b4b0f5278c7da20aaadad	We describe a child with @DISEASE$ who presented with isolated @PHENOTYPICFEATURE$, mimicking ITP.	has_symptom
+8c91b2fe043f6134a6d6286cd24403ed5ee3dc4e	The only patient with @DISEASE$ type Ia (PHP-Ia) presented clinically with latent tetany, @PHENOTYPICFEATURE$, round face, short stature, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia.	has_symptom
+2629522e242d76d7c5445606810972afb8453e05	The only patient with @DISEASE$ type Ia (PHP-Ia) presented clinically with latent tetany, mental retardation, round face, @PHENOTYPICFEATURE$, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia.	false
+026743367c872d01f5acb9ff134d528b53496d7a	The only patient with pseudohypoparathyroidism type Ia (PHP-Ia) presented clinically with latent tetany, @DISEASE$, round face, @PHENOTYPICFEATURE$, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia.	false
+cc655caf407c654af9f36512e0d23a11aaf5cf94	Despite intrathecal baclofen administration in patients with @PHENOTYPICFEATURE$ related to @DISEASE$ is not widely reported, we consider it as feasible treatment.	has_symptom
+82685473dd1f2a878a0ba6909864a72969262b2f	Although @PHENOTYPICFEATURE$ is a feature that is sometimes observed in patients with @DISEASE$, there are few clinical reports of cleft palate associated with Kabuki syndrome.	has_symptom
+72eeedbcc686ef91d40e612a80aec667c59c778d	Although cleft palate is a feature that is sometimes observed in patients with @DISEASE$, there are few clinical reports of @PHENOTYPICFEATURE$ associated with Kabuki syndrome.	has_symptom
+fecfe0eb61be6f86f83dae5064288c38ac6ff7e1	Although cleft palate is a feature that is sometimes observed in patients with Kabuki syndrome, there are few clinical reports of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+4dac24786ff840f7dff8baa766aec8136efe3961	Although @PHENOTYPICFEATURE$ is a feature that is sometimes observed in patients with Kabuki syndrome, there are few clinical reports of cleft palate associated with @DISEASE$.	has_symptom
+3eaf424274c19bcfbd45f40a71f0eb5af1520e18	Our results suggest that (1) patients with @PHENOTYPICFEATURE$ in @DISEASE$ tend to fail in acquiring normal velopharyngeal function and (2) submucous cleft palate might be more common in patients with Kabuki syndrome than previously was reported.	has_symptom
+762ddd4fe63b781d99ddf7d371927f1b0862645c	Our results suggest that (1) patients with cleft palate in Kabuki syndrome tend to fail in acquiring normal velopharyngeal function and (2) submucous @PHENOTYPICFEATURE$ might be more common in patients with @DISEASE$ than previously was reported.	has_symptom
+5834ec46aa0258f8ab7a348a5a40f09e2fa8f65b	Our results suggest that (1) patients with @PHENOTYPICFEATURE$ in Kabuki syndrome tend to fail in acquiring normal velopharyngeal function and (2) submucous cleft palate might be more common in patients with @DISEASE$ than previously was reported.	has_symptom
+73f70a02a45247165cb1e7aea74ad18e4ed8aa04	Our results suggest that (1) patients with cleft palate in @DISEASE$ tend to fail in acquiring normal velopharyngeal function and (2) submucous @PHENOTYPICFEATURE$ might be more common in patients with Kabuki syndrome than previously was reported.	has_symptom
+a84b6da53542393831bd4005990b141f01f4445d	This report presents six cases of @DISEASE$ with @PHENOTYPICFEATURE$ and reviews their clinical features.	has_symptom
+0568eb5739cdf205e061a7bc43f14d8bb80dffb3	@PHENOTYPICFEATURE$ in @DISEASE$: a report of six cases.	has_symptom
+9c3e44185d245c790d3fb89e49b573e809367cab	Anorectal anomalies, diaphragmatic defect, @PHENOTYPICFEATURE$, lower lip pits, hypopigmentation and hypogammaglobulinemia A in @DISEASE$: a rare combination.	has_symptom
+8da43d7c9544103a37a82853afff9925ed19fe36	Anorectal anomalies, diaphragmatic defect, @DISEASE$, lower lip pits, @PHENOTYPICFEATURE$ and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.	false
+b313ba1b5df555b223af41a94528bdfa5587a8dc	Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and @PHENOTYPICFEATURE$ A in @DISEASE$: a rare combination.	false
+4f79de6407decd9819ece82c5cec34cb74a3ef00	@PHENOTYPICFEATURE$, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in @DISEASE$: a rare combination.	false
+4229166c9430c25a74ffcf034e5cf5676d3446f4	Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, @PHENOTYPICFEATURE$ and hypogammaglobulinemia A in @DISEASE$: a rare combination.	false
+6844ddf1cc29ec2cbe5843a1e77448221076a605	Anorectal anomalies, diaphragmatic defect, @DISEASE$, lower lip pits, hypopigmentation and @PHENOTYPICFEATURE$ A in Kabuki syndrome: a rare combination.	false
+628ededa045d1ac13f974d6fbb9c57d22c96e99f	@PHENOTYPICFEATURE$, diaphragmatic defect, @DISEASE$, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.	false
+8591c905e26ac34a296b726e42576a37c5203456	We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; @PHENOTYPICFEATURE$; congenital diaphragmatic hernia; duplex kidney; as well as facial features of @DISEASE$, including interrupted eyebrows and lower lid ectropion.	has_symptom
+b2643d24cd9b97093f5cf9d9c9700691920dc35c	We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme @PHENOTYPICFEATURE$; @DISEASE$; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion.	false
+7a082f86977b8b9d125d6b2ab4ff704f95cde723	We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme @PHENOTYPICFEATURE$; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of @DISEASE$, including interrupted eyebrows and lower lid ectropion.	false
+2ece97a8532cb94a23a583b6845d4f0d6c66231b	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+da806bcf36c56e7406f3aaca2765f501fcae8270	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+9df7287ae183c197906a4797f6fa011f5fb06450	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+2237e6ade43aed228693c19a7b2f84de184307ad	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+e2675279a966808b9cd18d9cfb31315f6db1f1c6	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+3e9f66e9e8809ea568bbfe8c3b86ab7eea501727	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, @DISEASE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+d4e4f30c1322786dfb692922c2ed66e85b201c08	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+177bc72a1ebf6cd77632a6e06cb969f00bb665dc	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+5160b93e73b4673fff3f2da8d19c944bac37d07d	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+d861164e9eb6727caf491ff5f6f2a2cc837925f9	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+fb12ce1d9cc6afddf78be763d748f08771e1586f	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+27d2e59bc916f6b31400c5e82a3a869d3492c963	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8de163fcb5c487861ebe5c1c2e7600a91e0f94f3	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+b2450e628c09c48248654c6ef969df08a86acb50	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+6edc4ca8810790b8a16db14b811c56ad260f515a	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @DISEASE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+350194d21f8aa18c64e2b88fc6c131b94d21e419	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @DISEASE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f06745f80306f4ceead92349f6c3f882fb6f24a8	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+9d7368e3fea3ae16c11ef1613d73b0d8424d08b8	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+3c4d9e8ff8511ed7865fc9971e3c77de931f9ffd	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, @DISEASE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+cfb8604b09e683c6c589b9cefdb42324061ea4ef	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+ae0f8929f43f6e0a9c3ed9df2821af5d2118a350	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @DISEASE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f11eebb567e1eceee03c10a72d863f5ad1864e5a	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+b79ef3709b2cda609a7c809e74f20d13e6bbabb8	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @DISEASE$, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+86fe0dcb2b1e9bfbadd8dbad63226c4cb202a24a	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal tumour in one, M?llerian duct @DISEASE$ cervicothoracic somite dysplasia, vertebral abnormalities, @PHENOTYPICFEATURE$, cardiac anomalies, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	has_symptom
+d7b301aa9e3ab8f6e7a69f5eaf47d0128c6a01e7	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal tumour in one, M?llerian duct @DISEASE$ cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, @PHENOTYPICFEATURE$, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	false
+ffdc418364c571966afcc67f95727765b4394660	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal @PHENOTYPICFEATURE$ in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, cardiac anomalies, tracheo-oesophageal fistula, and/or @DISEASE$, renal abnormalities and limb defects syndromes in one each.	false
+4a545309531c05c2ce4695fa8e4aeebd40eb46f4	In group 1 the presenting diagnoses included androgen insensitivity syndrome (@DISEASE$) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal @PHENOTYPICFEATURE$ in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, cardiac anomalies, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	false
+c1622843f17583da935bf523d7bd6897fe917258	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal tumour in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, @PHENOTYPICFEATURE$, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects @DISEASE$ in one each.	false
+c2d3381a56df0811961e16bc54688a2521033950	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal @PHENOTYPICFEATURE$ in one, M?llerian duct @DISEASE$ cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, cardiac anomalies, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	false
+e9a6ca577e806ac51361d9b7e87a6d5d51e1b524	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal @PHENOTYPICFEATURE$ in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, cardiac anomalies, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects @DISEASE$ in one each.	false
+f2080b3b85195e6d6f9bd05347e0ac833afde3ca	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal tumour in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	false
+104f3ab24b5785db6e35abbbaaf6c1d6e7b10a35	In group 1 the presenting diagnoses included androgen insensitivity syndrome (@DISEASE$) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal tumour in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, @PHENOTYPICFEATURE$, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	false
+c341f5b2bf4376cb756daafeb5d112bf50cfbe62	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal tumour in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, anal atresia, @PHENOTYPICFEATURE$, tracheo-oesophageal fistula, and/or @DISEASE$, renal abnormalities and limb defects syndromes in one each.	false
+6cd6a86c77f1d5879cd3c987fe5a8d1ebebd7d22	In group 1 the presenting diagnoses included androgen insensitivity syndrome (AIS) in six patients, MRKHS in two, cloacal exstrophy in two, vaginal @PHENOTYPICFEATURE$ in one, M?llerian duct renal aplasia cervicothoracic somite dysplasia, vertebral abnormalities, @DISEASE$, cardiac anomalies, tracheo-oesophageal fistula, and/or oesophageal atresia, renal abnormalities and limb defects syndromes in one each.	false
+d1fad3b5deb6f72a79ecd8c27c839a090b8a089a	Long-term response of metastatic @DISEASE$ syndrome associated @PHENOTYPICFEATURE$ to bevacizumab plus erlotinib after temsirolimus and axitinib treatment failures.	has_symptom
+2cb7273a808d0a3ac579910267282cf2eba7696b	The patients presented with typical features of @DISEASE$, such as @PHENOTYPICFEATURE$, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	has_symptom
+73aaf5ed1d1a992ac8b97721d53cddbeca18dc28	The patients presented with typical features of Cabezas syndrome, such as @DISEASE$, @PHENOTYPICFEATURE$, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+196d81724ef779b133b553de35edcccf8bd3a6ef	The patients presented with typical features of @DISEASE$, such as severe mental retardation, speech impairment, hyperactivity, @PHENOTYPICFEATURE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+37240c34f459020d4c4d818dd3ee9eb730b8c857	The patients presented with typical features of @DISEASE$, such as severe mental retardation, @PHENOTYPICFEATURE$, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+4fec5436b602d0a65968b4c0ada28264c9bac443	The patients presented with typical features of Cabezas syndrome, such as @DISEASE$, speech impairment, hyperactivity, @PHENOTYPICFEATURE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+002e392dabae77a3a441d62bb3b239eea088dc36	Clinical phenotypes of @DISEASE$ (HDLS), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, seizure, and @PHENOTYPICFEATURE$.	has_symptom
+8b3363ea1080c2b1ded0a146ea081d2ad34d6938	Clinical phenotypes of hereditary diffuse leukoencephalopathy with spheroids (@DISEASE$), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, seizure, and @PHENOTYPICFEATURE$.	has_symptom
+30299008196b068eb00db950ba7eefec2a5eb62d	Clinical phenotypes of hereditary diffuse leukoencephalopathy with spheroids (HDLS), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d6bef9e156975e3493118883af83eca4e8c5c414	Clinical phenotypes of hereditary diffuse leukoencephalopathy with spheroids (@DISEASE$), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, @PHENOTYPICFEATURE$, and spasticity.	false
+7e87b0a5cabfb14e6dc4108d0fe1f3f5566a3932	Clinical phenotypes of @DISEASE$ (HDLS), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, @PHENOTYPICFEATURE$, and spasticity.	false
+11e617ed1ede6c5d9bbd0a4b00b84b8ebc42567f	@DISEASE$ (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and ataxia.	has_symptom
+d9af65579c893a20bd8d69947481d848866286fc	HDLS (Hereditary Diffuse @DISEASE$ with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and @PHENOTYPICFEATURE$.	false
+a93b6602d1ecbc7116f2c0c75eb6672113d037b1	@DISEASE$ (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and @PHENOTYPICFEATURE$.	false
+7d9baf42103aa134bd7f463a944ee6d4d331b9e3	HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6e0070339aeadc49de1a2101f0ee188d1b20cb99	HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary @DISEASE$ whose main clinical manifestations include parkinsonism, spasticity, and @PHENOTYPICFEATURE$.	false
+a049bb099323d9af048b27455e0498ef556946c5	For the diagnosis of @DISEASE$, the most significant group of diagnostic criteria identified included haemorrhagic rash (OR 22.36), absence of @PHENOTYPICFEATURE$ (OR 2.51), headache (OR 1.83) and negative gram stain result (OR 1.55) with a Positive Predictive Value (PPV) of 96.4% (95%CI 87.7-99.6).	has_symptom
+e472f94052780182343b4dae2ee1db2eaf0de04b	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with @PHENOTYPICFEATURE$, three with white matter diseases, two with movement disorders, one with @DISEASE$ and one with sinus venous thrombosis.	has_symptom
+331a45e70768ccb94026a9a70554167fe62dcdc5	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with @DISEASE$ and one with sinus venous thrombosis.	false
+733dd00af491429b19547ebea03ccfa2b6c01a23	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with @DISEASE$, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with meningococcal meningitis and one with sinus venous thrombosis.	false
+b40740090fa3667cb67b82043e998ab145f1200f	63 patients were studied, including 14 with encephalitis, 12 with @DISEASE$, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with meningococcal meningitis and one with sinus venous thrombosis.	false
+f3c9a84de45d50be748664fa6601636d93c8c42a	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with meningococcal meningitis and one with sinus venous @DISEASE$.	false
+ad4fe36b7166d537f92f6b85c8fe8aff04c99705	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral @DISEASE$, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with meningococcal meningitis and one with sinus venous thrombosis.	false
+0d4eeff2f7e509d785d59810fd3795caa4230a89	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with @DISEASE$ (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with meningococcal meningitis and one with sinus venous thrombosis.	false
+9e490a5d61b2e2d0536dc63d564c8e1efcfa4b16	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with @DISEASE$, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with meningococcal meningitis and one with sinus venous thrombosis.	false
+913f480dd7872316fd94ee582961db454b98b17a	The presence of @PHENOTYPICFEATURE$, symmetrical hip dysplasia and abnormal vertebral bodies should raise the suspicion of a skeletal dysplasia, specifically @DISEASE$.	has_symptom
+2fa749cba95b3fe81896cc691ffe1e5b0f581cd4	The presence of @DISEASE$, symmetrical hip dysplasia and abnormal vertebral bodies should raise the suspicion of a @PHENOTYPICFEATURE$, specifically spondyloepiphyseal dysplasia.	false
+4a0d1541ca03918f77de648234365e3f75726795	The presence of short stature, symmetrical hip dysplasia and abnormal vertebral bodies should raise the suspicion of a @PHENOTYPICFEATURE$, specifically @DISEASE$.	false
+ce7767eaafb67e375328213b3855671545216672	The disorder is characterized by @DISEASE$ with @PHENOTYPICFEATURE$, nephropathy, T cell deficiency, neurologic and cutaneous signs.	has_symptom
+335077091699bd6bacdefba9a3dae2f35af419ed	Unclassified @PHENOTYPICFEATURE$, possibly @DISEASE$, possibly multiple epiphyseal dysplasia, in father and daughter.	has_symptom
+6613cb415164743908e1b779c3cf699b27974dbf	An 11-year-old boy with @PHENOTYPICFEATURE$, dysplastic epiphyses, and vertebral abnormalities was thought to have @DISEASE$.	has_symptom
+202faf7158751a41f0b8900f0eab3c5287e0f067	We have investigated a family with an autosomal dominant form of @DISEASE$ (SED) characterised by @PHENOTYPICFEATURE$ and severe premature degenerative arthropathy.	has_symptom
+274dd466ddddf420f2fabab2816e52b6d47a9c67	We describe a family with progressive skeletal dysplasia and severe spinal involvement, @PHENOTYPICFEATURE$, premature arthrosis and joint contractures diagnosed as @DISEASE$ Omani type.	has_symptom
+660e43a2b96b03a9e41858ab9294ddfe1d3e0ee5	We describe a family with progressive skeletal dysplasia and severe spinal involvement, short stature, premature arthrosis and @PHENOTYPICFEATURE$ diagnosed as @DISEASE$ Omani type.	false
+0a4968f4948b2f7f83b3125835a12abfa55a8a5a	We describe a family with progressive @PHENOTYPICFEATURE$ and severe spinal involvement, short stature, premature arthrosis and joint contractures diagnosed as @DISEASE$ Omani type.	false
+d1d8a057b5c76d10e12fe610c5c94747642693c3	We describe a family with progressive @PHENOTYPICFEATURE$ and severe spinal involvement, @DISEASE$, premature arthrosis and joint contractures diagnosed as spondyloepiphyseal dysplasia Omani type.	false
+37d3d715e5908d93f76f5cbf6a85097355baacb7	We describe a family with progressive skeletal dysplasia and severe spinal involvement, @DISEASE$, premature arthrosis and @PHENOTYPICFEATURE$ diagnosed as spondyloepiphyseal dysplasia Omani type.	false
+63a6f5c1a85477d427636c61b78f8940f51538e7	Unclassified @PHENOTYPICFEATURE$, probably mild @DISEASE$.	has_symptom
+933b49f11d6f1e2266c9434ef8819f7f31a2cb53	@DISEASE$ (SED) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, abnormal epiphyses and flattened vertebral bodies.	has_symptom
+b99cf174afee2043017b6f268f3c68a3f57cd3ea	Spondyloepiphyseal dysplasia (SED) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by @DISEASE$, abnormal epiphyses and flattened vertebral bodies.	false
+a260729482511526ad706c81ea712effebf17241	@DISEASE$ (SED) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, abnormal epiphyses and flattened vertebral bodies.	false
+2b5770928c3060a4a164433830cf7f3b8118f5f1	The group of @DISEASE$ includes several entities, characterized by @PHENOTYPICFEATURE$, dislocation of large joints, hand and/or vertebral anomalies.	has_symptom
+8b4171446605c7a9cab114810e0208245048f1d6	The group of @DISEASE$ includes several entities, characterized by short stature, dislocation of large joints, hand and/or @PHENOTYPICFEATURE$.	false
+b3f848a2aba8e42dff39f016aa7716c15aeb7ec8	The group of chondrodysplasia with multiple dislocations includes several entities, characterized by @DISEASE$, dislocation of large joints, hand and/or @PHENOTYPICFEATURE$.	false
+6f8a2ef5607fce9d60c14c71074653fbec256749	ACAN should be considered as a candidate gene in patients with @PHENOTYPICFEATURE$ and minor skeletal defects, particularly those with brachydactyly, and in patients with @DISEASE$.	has_symptom
+8c5315426f6abffc8aa828d8e89cdc4134a9d6f0	ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with @PHENOTYPICFEATURE$, and in patients with @DISEASE$.	false
+251d2d986219140b56311340b4c24f90abc8757f	ACAN should be considered as a candidate gene in patients with @DISEASE$ and minor skeletal defects, particularly those with @PHENOTYPICFEATURE$, and in patients with spondyloepiphyseal dysplasia.	false
+a553da313b404915ef656482795573a1782f2de7	@DISEASE$ is an autosomal dominant disease which presents with striatal and cortical degeneration causing @PHENOTYPICFEATURE$, dementia and emotional changes.	has_symptom
+6f5da0767cd79ba9cdce341f22bdcc9ae8fd5f51	@DISEASE$ is an @PHENOTYPICFEATURE$ hereditary cancer syndrome with high variability and susceptibility.	has_symptom
+1ae7dfe39eb2865be46c974d5590f30027fb9f61	The infantile presentation of CISS, referred to as @DISEASE$ (CS), is characterized by facial muscular @PHENOTYPICFEATURE$ in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia.	has_symptom
+a39cac8b2c407c5213cfb938209fad657c025ab6	The typical presentation of @DISEASE$ is @PHENOTYPICFEATURE$, back pain, and an elevated sedimentation rate.	has_symptom
+7038f4d4f47017a5636ef7789be85514ff3272d4	We studied a patient with erythroderma who had received erythropoietin because of @DISEASE$ with tumor @PHENOTYPICFEATURE$.	has_symptom
+220cac5c5925c82dafd277ac65c705602221a721	We studied a patient with erythroderma who had received erythropoietin because of myeloma with @PHENOTYPICFEATURE$ @DISEASE$.	false
+c635a579307d7b7cede9dacee8b76aa0e7ff5dba	We studied a patient with erythroderma who had received erythropoietin because of @DISEASE$ with @PHENOTYPICFEATURE$ anemia.	false
+54daaf9d9c599931f7db42fbf5f617bd657f5229	@PHENOTYPICFEATURE$ and bleeding are commonly observed in patients with @DISEASE$ (MM).	has_symptom
+0bb177a1b1efb472bed69f3c68abeeda5d0d76fe	[Treatment of @DISEASE$ associated @PHENOTYPICFEATURE$ with human recombinant erythropoietin in a hemodialysis patient].	has_symptom
+4c4040ee940ea2a2721f03f11a2d82bcc5377b00	Sequential evaluation of serum hepcidin in anemic @DISEASE$ patients: study of correlations with myeloma treatment, disease variables, and @PHENOTYPICFEATURE$ response.	has_symptom
+0d21db514183590985bb38d690d390e9cf10d32b	Sequential evaluation of serum hepcidin in anemic myeloma patients: study of correlations with @DISEASE$ treatment, disease variables, and @PHENOTYPICFEATURE$ response.	has_symptom
+9cf37b00f2d50a75b14bc49acb6f675d700053bc	Therapy should be administered to patients with advanced and active @DISEASE$ involving @PHENOTYPICFEATURE$, osteolysis or renal failure.	has_symptom
+f928e0decb1821bdf42af2f82c4b227af708b100	Therapy should be administered to patients with advanced and active @DISEASE$ involving anemia, osteolysis or @PHENOTYPICFEATURE$.	false
+313d367e1d9946308a8fa7889dc641c59a6ae789	Therapy should be administered to patients with advanced and active myeloma involving @DISEASE$, osteolysis or @PHENOTYPICFEATURE$.	false
+8b707895527301597389a4ed3101cde3b3840f7b	Therapy should be administered to patients with advanced and active myeloma involving anemia, @DISEASE$ or @PHENOTYPICFEATURE$.	false
+d68762a9f828c339430fa02ac5f80683d0d595b4	@PHENOTYPICFEATURE$ and infections in @DISEASE$: supportive therapy.	has_symptom
+ffcd1e4be15e2c00fafed25a0e36b603884acba6	Recombinant human erythropoietin in the treatment of @DISEASE$-associated @PHENOTYPICFEATURE$.	has_symptom
+08aa509f910289ffa1d7f429a067a7c11e6693bb	@DISEASE$ (MM) is a common hematological malignancy that is often associated with osteolytic lesions, @PHENOTYPICFEATURE$ and renal impairment.	has_symptom
+c01617ca65e5dc7739ef99e948560f4252b4e078	Hypercalcemia, renal insufficiency, @PHENOTYPICFEATURE$, bone lesions or recurrent bacterial infections characterize active @DISEASE$.	has_symptom
+3072755021b12f89814ea3ae976b1dd171fd2f0f	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	has_symptom
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	has_symptom
+ce032e89676a05ca59bf7c006d1919d79f77fe97	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and @DISEASE$.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+7b91ec4794fdad09846bf7e57115664932fd5255	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+9608fa9e6b030df8cfcd5189a64ff2afee3adf9f	Association between brain structural anomalies, electroencephalogram and history of @PHENOTYPICFEATURE$ in @DISEASE$ (Hunter syndrome).	has_symptom
+2c1742dbdaff539a3412678c8c9decc3b444a269	Spinocerebellar ataxia type 6 with positional @PHENOTYPICFEATURE$ and acetazolamide responsive @DISEASE$.	has_symptom
+0edb26a680286f30c6a1ece73eb037d497a599b5	@DISEASE$ is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of @PHENOTYPICFEATURE$, dysarthria, and ataxia for which a variety of different genetic variations have been implicated.	has_symptom
+d95d45df874d37584c9e7dc3d96d64984b9b8e6f	@DISEASE$ is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and @PHENOTYPICFEATURE$ for which a variety of different genetic variations have been implicated.	false
+48e5b4e11864a2678df56f86c3657c1cf5eaa2af	Episodic ataxia is a heterogenous group of uncommon @DISEASE$ characterised by recurrent episodes of vertigo, dysarthria, and @PHENOTYPICFEATURE$ for which a variety of different genetic variations have been implicated.	false
+a7a433c8ed49f0c35a0ff3118a63f2bcfd8562cc	Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of @DISEASE$, dysarthria, and @PHENOTYPICFEATURE$ for which a variety of different genetic variations have been implicated.	false
+a05be9eec51384cb87512ec4429168e423415a11	Migrainous @PHENOTYPICFEATURE$ is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with @DISEASE$ and migraine.	has_symptom
+67d8a0da41249d53389905f4bf5cf33655e4eaf6	@PHENOTYPICFEATURE$ @DISEASE$ is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with episodic ataxia and migraine.	false
+87a0824c23b512bce418b1cb5567c2d8f90f2b01	@PHENOTYPICFEATURE$ vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with @DISEASE$ and migraine.	false
+2a923efa69c2c3e22f0cbb430a9983fe4a640ae0	@PHENOTYPICFEATURE$ vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with episodic ataxia and @DISEASE$.	false
+559fa85579c22fe09cec8b50de6de7c13f4b4e86	An autosomal dominant disorder with @DISEASE$, @PHENOTYPICFEATURE$, and tinnitus.	has_symptom
+6312380e64af9700c5b26efb7aa479b1865d97e4	An autosomal dominant disorder with episodic ataxia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8dbab586255fd10648671017d78033cef51eb2d6	An autosomal dominant disorder with @DISEASE$, vertigo, and @PHENOTYPICFEATURE$.	false
+842a7bd7ce26ed482ff2ebb01977eecd0f59d4c3	The patients mainly presented recurrent dizziness/@PHENOTYPICFEATURE$, with the absence of characteristic @DISEASE$.	has_symptom
+fe6b2cc637cd33da93533e4ee3a9478c6b1337ea	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant @PHENOTYPICFEATURE$-lens ectopia-microspherophakia-stiffness-@DISEASE$, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia.	has_symptom
+b0b55e7562b729581bc7de5d0c07d788bcd79516	It may be isolated or occur as part of a hereditary @DISEASE$, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+362c1d67901bcb6cdfd2b911d0784d0bc3f42cfb	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-@DISEASE$, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+154723d7c23d2b4b79a1055807f62a76550eb9c4	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant @DISEASE$-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+64fcc4b3e8fde46303ee78518e7791711142de54	It may be isolated or occur as part of a hereditary systemic disorder, such as @DISEASE$, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+3e3f7ce973bbe2001fb9a307faf64a90fe9f9698	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of @DISEASE$, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+c486f7441e53ad62ffa0e66684626d10bcc72872	Mucopolysaccharidosis IIIA (@DISEASE$) in a New Zealand Huntaway dog with @PHENOTYPICFEATURE$.	has_symptom
+d6edf2c18e6d941a13d6573fe3e171517ffa3c6f	Here we show that Arsg KO mice share common neuropathological findings with other @DISEASE$ models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with @PHENOTYPICFEATURE$ as the major neurological finding.	has_symptom
+bee680ecf34549bc5467fec3e245c6d71e76f803	Significantly, disruptive mutation types were more likely to be found in younger patients, and @DISEASE$ patients tended to exhibit central nervous system involvement and @PHENOTYPICFEATURE$.	has_symptom
+b5fc27437b95f390f4ba0924bdc35e1008638cc2	@DISEASE$ patients were more prone to central nervous system involvement and @PHENOTYPICFEATURE$ compared with other patients (83.3% vs. 37.5%, P?=?0.019; 55.6% vs. 12.5%, P?=?0.04, respectively).	has_symptom
+3b8b3d9cf8052c45db59945f7ffb45b4d9d5f6f6	The present study describes the case of a 24-year-old patient who presented with obstructive jaundice and @PHENOTYPICFEATURE$, and was diagnosed with @DISEASE$ (PB).	has_symptom
+2b3c781ea549d6a51506ed19a4f44fa10b168aea	Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/@PHENOTYPICFEATURE$ (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, @DISEASE$ paraplegia].	has_symptom
+b2746fc79e19adf371acdef9ae61df57b076197c	A mutation hot spot for nonspecific X-linked @PHENOTYPICFEATURE$ in the MECP2 gene causes the @DISEASE$ syndrome.	has_symptom
+268516b7ce13e718ee02ab7a621bbe469b1c5c50	It has been described in familial X-linked mental retardation (XLMR), @DISEASE$ syndrome (Parkinsonism, Pyramidal signs, Macroorchidism, X-linked @PHENOTYPICFEATURE$) and in other neuropsychiatric syndromes.	has_symptom
+b5911efab1e4dbc05c4b50073f8b16cd4635f95d	It has been described in familial X-linked @PHENOTYPICFEATURE$ (XLMR), @DISEASE$ syndrome (Parkinsonism, Pyramidal signs, Macroorchidism, X-linked mental retardation) and in other neuropsychiatric syndromes.	has_symptom
+6e054d1e28b7a3c4946d608d4d41a733605d1ef1	Differential diagnosis should mainly out-rule @DISEASE$ that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and @PHENOTYPICFEATURE$.	has_symptom
+61af23e0b14cdfcca2682c1f3d644dab02669e39	Differential diagnosis should mainly out-rule @DISEASE$ that includes @PHENOTYPICFEATURE$, accelerated skeletal maturation, growth deficiency, and mental retardation.	false
+b0f3f7165fd4228d0a5b37663201707dd0674376	Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes @PHENOTYPICFEATURE$, accelerated skeletal maturation, growth deficiency, and @DISEASE$.	false
+0b32b67969a68063419d1237f4006d85b4c16245	The child was @PHENOTYPICFEATURE$ and had enlargement of the middle phalanges, features only seen in @DISEASE$.	has_symptom
+da76b09f2cae3d3c0137eda280c8e3d34fe7026b	The @DISEASE$ (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, @PHENOTYPICFEATURE$, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	has_symptom
+38171745f1ea79106ea49242b0c8cbc12b5307f4	The Marshall-Smith syndrome (MSS) is a distinct @DISEASE$ characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and @PHENOTYPICFEATURE$, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+ff244af74fd34a1d4e644b0cc14cb2168124eaeb	The Marshall-Smith syndrome (MSS) is a distinct @DISEASE$ characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+f629b386267d99aee45565b261a75dffdaf9403e	The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, @DISEASE$, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+a0a280bdc85f3a7f91a084e4d6c5c3a742268ed9	The @DISEASE$ (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative @PHENOTYPICFEATURE$, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+680bcfeb86163752a490e9026fb8321af69e22b7	The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, @DISEASE$, and @PHENOTYPICFEATURE$, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+ef541097f51bf9b36b8dfc0c5cc711e29f47fcbb	The @DISEASE$ (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and @PHENOTYPICFEATURE$, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+e21601503a9e1f659bc5330aa03240246091f5e7	The @DISEASE$ (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+d3381ca98212b8333c33d5eb56a49232c9370688	The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative @PHENOTYPICFEATURE$, respiratory difficulties, @DISEASE$, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+acf3eca9377df944a3159e5e72678b065171c360	The Marshall-Smith syndrome (MSS) is a distinct @DISEASE$ characterized by accelerated skeletal maturation, relative @PHENOTYPICFEATURE$, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+e0bf3b0848bc6da8fd96e57e500b5a394a12ab7e	@DISEASE$ is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable @PHENOTYPICFEATURE$.	has_symptom
+86f301e0730e9a44634ad0cbcf6713c5ac145b4a	Marshall-Smith syndrome is characterized by advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic @DISEASE$ features, and variable mental retardation.	false
+72a32e091de579f8b9213151b3678ea94b4a0809	@DISEASE$ is characterized by advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic facial features, and variable mental retardation.	false
+7014b4abc1a2823be14624ec846cff27bcd27b82	Marshall-Smith syndrome is characterized by advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic facial features, and variable @DISEASE$.	false
+701208c606f4dec28f8eb58300cf581f9b92fe0f	The @DISEASE$ is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with @PHENOTYPICFEATURE$ of variable degree.	has_symptom
+580ed0c3f61175cc18b57969c579d1d5a0ae8ab9	The @DISEASE$ is characterised by overgrowth, accelerated skeletal maturation, and @PHENOTYPICFEATURE$, often associated with mental retardation of variable degree.	false
+e140a6df672378e6d79c43ad9e031ba1a33887f9	The Marshall-Smith syndrome is characterised by @PHENOTYPICFEATURE$, accelerated skeletal maturation, and dysmorphic facial features, often associated with @DISEASE$ of variable degree.	false
+9c3d923f6574dcedf7a326fa3349f40f4b398869	The @DISEASE$ is characterised by @PHENOTYPICFEATURE$, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree.	false
+e2eeff3a7bd3df7e81eea1e08b08b6054f525e8a	The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and @PHENOTYPICFEATURE$, often associated with @DISEASE$ of variable degree.	false
+da4631ed9e0b1c17dc39cdb127f9e5a10c2c94da	@DISEASE$ is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable @PHENOTYPICFEATURE$.	has_symptom
+a535547f7343942f7e438c9bdd11d08c55bba9e8	@DISEASE$ is characterized by overgrowth, advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic facial features and variable mental retardation.	false
+46d244b245dfe625b65e41dc94a80e206114a39a	Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic @DISEASE$ features and variable mental retardation.	false
+236692715e6a7d0dcca5d87c040a710acb08b995	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation.	false
+02b96134d90642d42b7a26b0f39a8fab405443d8	Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic facial features and variable @DISEASE$.	false
+7382fbb844d0423ced688bf31876f711027a7c6e	Marshall-Smith syndrome is characterized by @PHENOTYPICFEATURE$, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable @DISEASE$.	false
+7e5440b7067f778839f761c28374db7c7ff1731b	Marshall-Smith syndrome is characterized by @PHENOTYPICFEATURE$, advanced bone age, failure to thrive, respiratory problems, dysmorphic @DISEASE$ features and variable mental retardation.	false
+3adf6f33e1eb29908e78c0d352ab39d400fed03e	After 10-15 years, deafness, cerebellar ataxia, polyneuropathy, ichthyosis, and @PHENOTYPICFEATURE$ can occur.We report the case of a very late-onset @DISEASE$ presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	has_symptom
+8daa3675823ab5f3457f077592be839a29967de4	After 10-15 years, deafness, @PHENOTYPICFEATURE$, polyneuropathy, ichthyosis, and @DISEASE$ can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+60e43a07e40ee583c6ea767883e71ba240039fe6	After 10-15 years, deafness, @PHENOTYPICFEATURE$, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset @DISEASE$ presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+40b585355bb52114818ec3518eab490d6c3c024a	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, polyneuropathy, @DISEASE$, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+171b59e5645f65bd37953f681b7b78f5cd2559b3	After 10-15 years, deafness, @PHENOTYPICFEATURE$, polyneuropathy, @DISEASE$, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+ab8f9f9b56189d1def341d9bb60992f6ed02996f	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, polyneuropathy, ichthyosis, and @DISEASE$ can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+86712ddc01757d479b690bc4db2d9265c0a65a0f	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, @DISEASE$, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+40e6d520d52d081de9e66e47a81f25b6032630c9	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset @DISEASE$ presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+054b6ee4455ac9fa0bd70a842ceae18a64708c47	After 10-15 years, deafness, @PHENOTYPICFEATURE$, @DISEASE$, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+7b41c86eff98af637491c5a3514c51e20fe75ddf	From January 2006 to June 2011, 460 elective surgery procedures were performed on 428 patients with inguinal hernia (396 with unilateral and 32 with bilateral @PHENOTYPICFEATURE$), using Lichtenstein technique, UHS/@DISEASE$, plug repair, and Shouldice technique.	has_symptom
+582fbf55d7e59227042b518a90329119bfd6f46d	The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for @DISEASE$ (CGL2), a condition characterized by severe lipoatrophy, insulin resistance, hypertriglyceridaemia and @PHENOTYPICFEATURE$.	has_symptom
+4085970c2e4bcfd87106a01557ceea7b3293a637	@DISEASE$ (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, @PHENOTYPICFEATURE$, microcephaly, mental retardation, variable chromosomal instability, and hematological disorders.	has_symptom
+dc89103c99cf825f2cfc15f1318cdc195d51f703	Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microcephaly, @PHENOTYPICFEATURE$, variable chromosomal instability, and @DISEASE$.	false
+9abd94e9f357342561d9daf17b2c94092ca8679c	Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic @DISEASE$ appearance, growth retardation, @PHENOTYPICFEATURE$, mental retardation, variable chromosomal instability, and hematological disorders.	false
+fcdf0e45fe2422881055b47ebfb395b688840a3d	Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic @DISEASE$ appearance, growth retardation, microcephaly, @PHENOTYPICFEATURE$, variable chromosomal instability, and hematological disorders.	false
+aceaa08603fa7765ec2dbcbb2abc13afa7f3647b	Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, variable chromosomal instability, and hematological disorders.	false
+05853ecd5b67f69cc2264f17305b3d93c240ffa6	Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, @PHENOTYPICFEATURE$, mental retardation, variable chromosomal instability, and @DISEASE$.	false
+cbbc8e0628689c2a82555a398e4b4af04846357d	@DISEASE$ (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, @PHENOTYPICFEATURE$, mental retardation, variable chromosomal instability, and hematological disorders.	false
+24517701da301b076bebfc59e28efa5465ccfde9	@DISEASE$ (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, growth retardation, microcephaly, @PHENOTYPICFEATURE$, variable chromosomal instability, and hematological disorders.	false
+7512896aa13ead7205d0acefb5cf01d6cecfa5f6	Seckel syndrome (SCKL) is a rare, genetically heterogeneous disorder, with dysmorphic facial appearance, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, variable chromosomal instability, and hematological disorders.	false
+37b86832ad364eb58d1593f713b106b7ebc1f446	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal @PHENOTYPICFEATURE$, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	has_symptom
+a83798f2fb3312bc0170adea03be80f108b65469	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme @PHENOTYPICFEATURE$, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+342fee27efeffa8fc7c478e7c4c94eae9c60f64c	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme @PHENOTYPICFEATURE$, a prominent beak-like nose, hypoplasia of the malar @DISEASE$, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+292a78a026f41b222a91c23589b74ce91e87ef41	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal @DISEASE$, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, @PHENOTYPICFEATURE$, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+269edf3c1bd39783169ca8fc36a8e7804fa27337	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, @PHENOTYPICFEATURE$, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+71c7b7125ccdee6a855c0f6c8dc10b2413f30fe1	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar @DISEASE$, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, @PHENOTYPICFEATURE$, and developmental delay.	false
+9cd8c2e026edf8e7e9b61a586438f5064e1dda1b	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal @DISEASE$, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, @PHENOTYPICFEATURE$, and developmental delay.	false
+3c7f197c9591769d3bf777ec8938d9fa481662cf	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal @DISEASE$, proportionate extreme @PHENOTYPICFEATURE$, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+404ea7719450079241e45320ccb935d1d7a6a154	Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar @DISEASE$, small chin, @PHENOTYPICFEATURE$, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay.	false
+33c9a04bd0a423042955431732ebea455b2c13fc	@DISEASE$ is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, @PHENOTYPICFEATURE$, and developmental delay.	false
+6436e4404af067d1b99352a573aa49a012c0c94e	We also measured IGF-IR binding parameters in 4 @DISEASE$ patients with IUGR and severely @PHENOTYPICFEATURE$ (mean height, -7.9 SD).	has_symptom
+461e1646e43f85cdbbc32813c5585d92520bebbd	Ataxia-telangiectasia and rad3 (ATR)-related @DISEASE$ is associated with @PHENOTYPICFEATURE$ and premature aging features.	has_symptom
+979fcd19a53a505a4484a6f0955b2c8886f3c6c3	ATR has been identified as a candidate gene for @DISEASE$, an autosomal recessive syndrome that comprises @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	has_symptom
+b13054ad989fb57b9e800591a11f16852d2ca1e3	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive @DISEASE$ that comprises growth retardation, @PHENOTYPICFEATURE$, and mental retardation.	false
+995afa32a8686eebc37a0ab590562be3e7bb52cb	ATR has been identified as a candidate gene for @DISEASE$, an autosomal recessive syndrome that comprises growth retardation, @PHENOTYPICFEATURE$, and mental retardation.	false
+1b6c949af1586b0c5020ed753455f2490a707c5a	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	false
+a6cdc83dce07771faf8b4b922bc735f18381c333	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+f08df1aa8ddac96c06312a3c1b09bd8eb327e4a1	ATR has been identified as a candidate gene for @DISEASE$, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and @PHENOTYPICFEATURE$.	false
+f935fb7dd031d72f17f35bef6e18557073814967	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive @DISEASE$ that comprises growth retardation, microcephaly, and @PHENOTYPICFEATURE$.	false
+71427e2dd9527ff9b5294058856fd249b577f32c	The patients with @DISEASE$ are characterized by @PHENOTYPICFEATURE$, microcephaly with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose.	has_symptom
+6b32d0e9b7044720b24964f1bf1d9fbbb9096648	The patients with @DISEASE$ are characterized by growth retardation, microcephaly with @PHENOTYPICFEATURE$, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+8c93ef27e18f5957799556ab54c529d0c538f116	The patients with Seckel syndrome are characterized by @DISEASE$, @PHENOTYPICFEATURE$ with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+375ec4e54ab3f9abdefd4492faa577c83cf9848e	The patients with Seckel syndrome are characterized by @DISEASE$, microcephaly with @PHENOTYPICFEATURE$, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+b67d9a8e31011217f082ac8eac4d14a35371b345	The patients with @DISEASE$ are characterized by growth retardation, @PHENOTYPICFEATURE$ with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+76bebe2bc47e703c57c3b048f7032bcee811bcbc	@DISEASE$ (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal @PHENOTYPICFEATURE$, microcephaly, typical facial appearance with beak-like protrusion, and severe mental retardation.	has_symptom
+be9fa70af7c22868fa0800bf282cc8161c5ce5c0	@DISEASE$ (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, microcephaly, typical facial appearance with beak-like protrusion, and @PHENOTYPICFEATURE$.	false
+57eb3d6993360648952acf902f6a990da382bae3	@DISEASE$ (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, @PHENOTYPICFEATURE$, typical facial appearance with beak-like protrusion, and severe mental retardation.	false
+0d4bbeeec6d840e5004d95115cf56aaeac0a96e9	Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal @DISEASE$, microcephaly, typical facial appearance with beak-like protrusion, and @PHENOTYPICFEATURE$.	false
+ff0e3ae7df17bbf0865f0793e50ee43477cde607	Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal @DISEASE$, @PHENOTYPICFEATURE$, typical facial appearance with beak-like protrusion, and severe mental retardation.	false
+4a22ab4514a6ddf31d8019c4d10bc2f4e8026f88	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal @PHENOTYPICFEATURE$, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	has_symptom
+6e1d1d981496112bacd794de6e6098a17bf36583	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, @PHENOTYPICFEATURE$ with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+272ad4d66db38b7ff4f4ff793d4ed4f339694a1d	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with @PHENOTYPICFEATURE$, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+72d403c8febb602563d21d3b0620cce0c45dfd04	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal @DISEASE$, microcephaly with @PHENOTYPICFEATURE$, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+742db70c154a32072e3c58c4b523c05dd15a0d93	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and @DISEASE$ dysmorphisms including @PHENOTYPICFEATURE$, a recessed forehead, and a large beaked nose.	false
+7120904510898908b85070cd6055c83dbd64158f	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with @PHENOTYPICFEATURE$, and @DISEASE$ dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+d025236a6da101a708327fdd2c734d1ebe077cec	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal @DISEASE$, microcephaly with mental retardation, and facial dysmorphisms including @PHENOTYPICFEATURE$, a recessed forehead, and a large beaked nose.	false
+261c84ab57c49d88f2435894d0683d25e831adbd	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal @DISEASE$, @PHENOTYPICFEATURE$ with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+d484781d070d633bb53aa3d275803f4f29587f9a	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, @PHENOTYPICFEATURE$ with mental retardation, and @DISEASE$ dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+c3a406697e8ddfb674f36af8fe16676c32e09ca8	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including @PHENOTYPICFEATURE$, a recessed forehead, and a large beaked nose.	false
+1a8ab2807a0a8b2657fe930efe6150c5fffd4f57	@DISEASE$ (TRP III) shares common traits with TRP I and II, including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe @PHENOTYPICFEATURE$.	has_symptom
+fad7532010627d77f70a62f4974576b1e72afe26	Among patients with @DISEASE$ (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show @PHENOTYPICFEATURE$ and atrophy that is dominant proximally, simulating myopathy.	has_symptom
+1bcf2a672d24b4a4230bf453019032ec1d68d69d	Proximal dominant @PHENOTYPICFEATURE$ is rare in transthyretin (TTR)-related @DISEASE$ (FAP).	has_symptom
+b581eccd5aed522b060d2684875c9f524ba075cb	We report the first known Egyptian patient with @DISEASE$, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive @PHENOTYPICFEATURE$, severe scoliosis, elevated serum creatine kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene.	has_symptom
+23f7469c185549fa9cbbdc747d9c6a53b5a9ca3e	A large intracranial @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+43424645d1d059bfba1900a386b6cee1604cce6e	Unrecognized seropositive RA and SS in a patient with associated @DISEASE$ type IIa and osseous @PHENOTYPICFEATURE$ of the proximal femur.	has_symptom
+53288fdf361dcadb3961be0f164fa03f6d80a083	Histological, histochemical and electron-microscopical examinations have been performed on @PHENOTYPICFEATURE$ of the skin and palmar creases in 5 patients with @DISEASE$, to follow the dynamics of xanthoma formation.	has_symptom
+a24d10556575a42062abedb1b3641e3f0b3403a9	@DISEASE$ (FH) is an autosomal-dominant inherited disorder characterized by high serum low-density lipoprotein (LDL)-cholesterol concentrations, @PHENOTYPICFEATURE$ formation, and premature atherosclerosis.	has_symptom
+ed5889cfe8158d320e1f06ac9b2b823f0c6031f3	Our patient has a significant family history of lung cancer and other autoimmune diseases associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ec0b0b56c0fccaf9e89688d66df2a19eef8d2030	@DISEASE$ presenting as intracranial @PHENOTYPICFEATURE$.	has_symptom
+ac8807b087ce6378fabcc6c0881e68bdf75a5883	In summary, although adverse reactions in Achilles tendon xanthomas appear to be infrequent, clinicians should be aware of this phenomenon in their patients after intensifying lipid treatments, especially with the use of niacin in patients with @DISEASE$. @PHENOTYPICFEATURE$ responses may provide clues to new pharmacologic effects in cholesterol-infiltrated tissues.	has_symptom
+4b1063fd881a96a6280111f83859c3d7f27b3b2d	Very little is known of the pathogenesis, in humans, of the four major clinical manifestations of AIDS--immunodeficiency, @PHENOTYPICFEATURE$, @DISEASE$, and lymphoma.	has_symptom
+4a3870063da315604486867d40be39cc42013fe8	The risk of death declined over time when the initial AIDS-defining illness was Pneumocystis carinii pneumonia only [adjusted hazard ratio (AHR) = 0.91, P < 0.0005]; other opportunistic infections (AHR, 0.88; P < 0.0005); @DISEASE$ only (AHR, 0.92; P = 0.025); and central nervous system conditions (HIV @PHENOTYPICFEATURE$, cryptococcosis, toxoplasmosis) (AHR, 0.92; P = 0.012).	has_symptom
+14d05fd255bdbbe09d47f6cbcc10f43ad722d84b	The risk of death declined over time when the initial AIDS-defining illness was Pneumocystis carinii pneumonia only [adjusted hazard ratio (AHR) = 0.91, P < 0.0005]; other opportunistic infections (AHR, 0.88; P < 0.0005); Kaposi's sarcoma only (AHR, 0.92; P = 0.025); and central nervous system conditions (@PHENOTYPICFEATURE$ @DISEASE$, cryptococcosis, toxoplasmosis) (AHR, 0.92; P = 0.012).	false
+3ec11ae641df1be379bc9e13a0fd3ad12074c4f7	The risk of death declined over time when the initial AIDS-defining illness was @DISEASE$ only [adjusted hazard ratio (AHR) = 0.91, P < 0.0005]; other opportunistic infections (AHR, 0.88; P < 0.0005); Kaposi's sarcoma only (AHR, 0.92; P = 0.025); and central nervous system conditions (@PHENOTYPICFEATURE$ encephalopathy, cryptococcosis, toxoplasmosis) (AHR, 0.92; P = 0.012).	false
+a1c7e5f154899cee94c23b2c2977c8478807b488	The risk of death declined over time when the initial AIDS-defining illness was Pneumocystis carinii pneumonia only [adjusted hazard ratio (AHR) = 0.91, P < 0.0005]; other opportunistic infections (AHR, 0.88; P < 0.0005); @DISEASE$ only (AHR, 0.92; P = 0.025); and central nervous system conditions (@PHENOTYPICFEATURE$ encephalopathy, cryptococcosis, toxoplasmosis) (AHR, 0.92; P = 0.012).	false
+7090404c3e0e1815df119ccb2f2bd58fcd90fd8a	While @DISEASE$ is constantly decreasing non Hodgkin lymphomas, HIV @PHENOTYPICFEATURE$ and wasting syndrome are increasing.	has_symptom
+a7fcbb9039bc574986020c9504888996c731eaa4	While @DISEASE$ is constantly decreasing non Hodgkin lymphomas, @PHENOTYPICFEATURE$ encephalopathy and wasting syndrome are increasing.	false
+c6c20015cc754bc01e08c818a612b1664b46c282	While Kaposi's sarcoma is constantly decreasing non Hodgkin lymphomas, @PHENOTYPICFEATURE$ encephalopathy and wasting @DISEASE$ are increasing.	false
+e6e84cbec3ce8a84e9026d03043cb0f556a8b6d2	While Kaposi's sarcoma is constantly decreasing non Hodgkin lymphomas, @PHENOTYPICFEATURE$ @DISEASE$ and wasting syndrome are increasing.	false
+b63c31a172f6fc7cf1d6e055b4fdee6247f5d1a6	@DISEASE$ typically presented with global developmental delay, hypotonia, obstructive sleep apnea, @PHENOTYPICFEATURE$, delayed myelination, micrognathia, and other mild dysmorphic features.	has_symptom
+32da125ceaa642ede71b1d1d13dff4cac2a66339	@DISEASE$ typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, @PHENOTYPICFEATURE$, and other mild dysmorphic features.	false
+f278d0a163b9d6403682dd7d830c5e8746f58436	@DISEASE$ typically presented with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.	false
+161d69bfe7e2c2df138912151992341ddc70d9d0	Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, @DISEASE$, delayed myelination, @PHENOTYPICFEATURE$, and other mild dysmorphic features.	false
+3c801df19ae7fb5264fa9fb685651984a2f35ee1	Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, delayed myelination, micrognathia, and other mild dysmorphic features.	false
+73342b1938ab42ca6d675ca50ba176b646b9518d	From this case report, we suggest that @PHENOTYPICFEATURE$ is not mandatory for the diagnosis of @DISEASE$ syndrome.	has_symptom
+21c297a0850f8c67029874218d13cbf6a44ce01d	In this case report, we describe the prenatal diagnosis of PCS/@DISEASE$ syndrome in a 24-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme @PHENOTYPICFEATURE$ (-5.0 standard deviations).	has_symptom
+31294aa25473f57939065de12b11362a63371711	We report the first case of @DISEASE$ syndrome without @PHENOTYPICFEATURE$.	has_symptom
+b1b77f8531c9695c225534e8ab2f8900cab5971b	The phenotype of @DISEASE$ syndrome includes severe @PHENOTYPICFEATURE$ and growth deficiency, central nervous system anomalies, mental retardation, mild physical anomalies, and predisposition to cancer.	has_symptom
+9ab7540053559b86437f0128a8e53a9bc147ed67	The phenotype of MVA syndrome includes severe microcephaly and growth deficiency, central nervous system anomalies, @PHENOTYPICFEATURE$, mild physical anomalies, and predisposition to @DISEASE$.	false
+e767d0f438f56b877ff7cb80a45a7e531afdd434	The phenotype of @DISEASE$ syndrome includes severe microcephaly and growth deficiency, central nervous system anomalies, @PHENOTYPICFEATURE$, mild physical anomalies, and predisposition to cancer.	false
+af57226d6cb7cf759097b5dcf11a37fd1bc0b2dc	The phenotype of MVA @DISEASE$ includes severe microcephaly and growth deficiency, central nervous system anomalies, @PHENOTYPICFEATURE$, mild physical anomalies, and predisposition to cancer.	false
+9fe0960b7c122c92da7ae7c28eaede1393d6edf0	The phenotype of MVA syndrome includes severe @DISEASE$ and growth deficiency, central nervous system anomalies, @PHENOTYPICFEATURE$, mild physical anomalies, and predisposition to cancer.	false
+9783e76802cababf7097bac65355ce89dca308e7	Constitutional mosaic aneuploidies, @PHENOTYPICFEATURE$, developmental delay and seizures, which are features of mosaic variegated aneuploidy (@DISEASE$) syndrome, were more variably present.	has_symptom
+48a01ff32b373b2aaacd140a8a180d0bd761463c	Constitutional mosaic aneuploidies, microcephaly, developmental delay and @PHENOTYPICFEATURE$, which are features of mosaic variegated aneuploidy (@DISEASE$) syndrome, were more variably present.	false
+578fd673a9d8b8f01fe0835faaca2a29d7846c27	Constitutional mosaic aneuploidies, @DISEASE$, developmental delay and @PHENOTYPICFEATURE$, which are features of mosaic variegated aneuploidy (MVA) syndrome, were more variably present.	false
+91437ac5ea7a1d4cc4ebe13a7809fc14a73e1489	Constitutional mosaic aneuploidies, microcephaly, developmental delay and @PHENOTYPICFEATURE$, which are features of mosaic variegated aneuploidy (MVA) @DISEASE$, were more variably present.	false
+3516f37df685ed764316dfb3b6911ebbbbd0c574	The phenotype of mosaic variegated aneuploidy (@DISEASE$) syndrome is characterized by severe @PHENOTYPICFEATURE$, growth deficiency, mental retardation, and mild physical anomalies.	has_symptom
+62d4a2def5067b2fd8f9092af4f53ba2f94de604	The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe @DISEASE$, growth deficiency, @PHENOTYPICFEATURE$, and mild physical anomalies.	false
+935648c4e2435485fc0a2d3b6ffe6a23564118b7	The phenotype of mosaic variegated aneuploidy (@DISEASE$) syndrome is characterized by severe microcephaly, growth deficiency, @PHENOTYPICFEATURE$, and mild physical anomalies.	false
+a8e9578ceefebac37efd4b74e31140543e2d228b	The phenotype of mosaic variegated aneuploidy (MVA) @DISEASE$ is characterized by severe microcephaly, growth deficiency, @PHENOTYPICFEATURE$, and mild physical anomalies.	false
+bd0e25974194a031f95ee7de1e29ebae37a5c27c	While liver and renal symptoms are more severe in @DISEASE$, neurodevelopmental characteristics are more pronounced in MEDS patients, in which @PHENOTYPICFEATURE$ and uncontrolled epilepsy are uniformly present.	has_symptom
+497b19b16ef3b88a21bafeda11b3ae2b332db009	Wolcott-Rallison syndrome (@DISEASE$) and the recently delineated @PHENOTYPICFEATURE$ with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation.	has_symptom
+5750dec4c4786a3758afad64c4d3602d1a4ef094	@DISEASE$ (WRS) and the recently delineated @PHENOTYPICFEATURE$ with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation.	has_symptom
+2c539ff74e5b459e0b209122c43dcaf82b66696b	Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (@DISEASE$) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+183d6b8a5d0cde22820b86e81065917ff34b19d5	Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset @DISEASE$, skeletal defects, and @PHENOTYPICFEATURE$.	false
+5a69625ba47e21447e73d524a108a62f96b2959a	Wolcott-Rallison syndrome (WRS) and the recently delineated @DISEASE$ with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+d37f8b658c3bd9873ce428a37a45badfd42557fb	@DISEASE$ (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+5e03425b82a2d4fbfb7ac90a32193fad515d65bc	Wolcott-Rallison syndrome (@DISEASE$) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+79693a870b034dfdb7d201bca9dc176a27906e29	Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and @DISEASE$ neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+ecbf008db47bcf4d1a04cd301f9fb57363920643	Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes @DISEASE$ (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+87b6c8e85af73f385f977fa32a8c9183622375f8	Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal @DISEASE$ syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and @PHENOTYPICFEATURE$.	false
+9c0ae3f70f97d049fcb2a8369ea9b015d5c75692	Rothmund-Thomson syndrome (@DISEASE$) is an autosomal recessive disorder characterized by skin abnormalities that appear in infancy, @PHENOTYPICFEATURE$, juvenile cataracts and other manifestations of premature aging, and a predisposition to malignancy.	has_symptom
+f4725d925853ef18babdd13a880d52c048c814fc	@DISEASE$ (RTS) is an autosomal recessive disorder characterized by skin abnormalities that appear in infancy, @PHENOTYPICFEATURE$, juvenile cataracts and other manifestations of premature aging, and a predisposition to malignancy.	has_symptom
+4a7f369c6412236e91ebfe28adcf45b61ac610ca	@DISEASE$ (RTS) is an autosomal recessive disorder characterized by growth deficiency, skin and @PHENOTYPICFEATURE$, and a predisposition to cancer.	has_symptom
+5c426560edc14a02f404edea04e71fd383aeabad	Rothmund-Thomson syndrome (@DISEASE$) is an autosomal recessive disorder characterized by growth deficiency, skin and @PHENOTYPICFEATURE$, and a predisposition to cancer.	has_symptom
+ab03d7b45618c9aa8d7ddf4ca5313d37fae622fb	@DISEASE$ (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, @PHENOTYPICFEATURE$, short stature, juvenile cataract and predisposition to skin and bone malignancies.	has_symptom
+e9bc00d8d81d159fe8808467e03087740c011748	Rothmund-Thomson syndrome (@DISEASE$) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, @PHENOTYPICFEATURE$, short stature, juvenile cataract and predisposition to skin and bone malignancies.	has_symptom
+a9a64af37ff8ce0544e1e51a25b4cb66eaf077a1	Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, @DISEASE$, short stature, juvenile cataract and predisposition to skin and bone malignancies.	false
+72db9dde9a1d9ab27bd6d1ab31deba3379bc736f	Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, @DISEASE$, @PHENOTYPICFEATURE$, juvenile cataract and predisposition to skin and bone malignancies.	false
+aea86c71c4c92ca79e493fdd260b24c86ac0d74a	@DISEASE$ (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies.	false
+8b74657c49020f632ea57cc52c34da923f095bb0	Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, skeletal abnormalities, short stature, juvenile @DISEASE$ and predisposition to skin and bone malignancies.	false
+94376fd08c4124d10901f8cde4981cc23eb9a8c2	Rothmund-Thomson syndrome (@DISEASE$) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies.	false
+d40da0f12eebeb25b88e7aeb648bd70cbc092205	@DISEASE$ (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, @PHENOTYPICFEATURE$, juvenile cataract and predisposition to skin and bone malignancies.	false
+cbb5739675ffa4c9966247fc3734d4ff5021e433	Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, @PHENOTYPICFEATURE$, juvenile @DISEASE$ and predisposition to skin and bone malignancies.	false
+62562142535f4f006eb59ef4ce7a5d28d2153dfc	Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, @PHENOTYPICFEATURE$, juvenile cataract and predisposition to skin and bone @DISEASE$.	false
+0276146161892d4bd7434c0e453bf847c39642be	Rothmund-Thomson syndrome (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone @DISEASE$.	false
+aa47d95fada526979803cc3927116ef83fc9647e	Rothmund-Thomson syndrome (@DISEASE$) is a rare genodermatosis with characteristic skin changes such as atrophy, abnormal pigmentation and telengiectasias, skeletal abnormalities, @PHENOTYPICFEATURE$, juvenile cataract and predisposition to skin and bone malignancies.	false
+459f0cbb53ed63253ccf2293babe1835de427242	@DISEASE$ is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various @PHENOTYPICFEATURE$, juvenile cataracts, and predisposition to certain cancers.	has_symptom
+0c2a52409dc1f2c1603d62617dd1732a005b88f2	@DISEASE$ is a rare genodermatosis that features a progressive, early-onset poikiloderma, a high incidence of juvenile cataracts, stunted growth, and a wide range of @PHENOTYPICFEATURE$.	has_symptom
+866bf25c8dc71056575a6f9cb63c6d9e50b868f6	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, @PHENOTYPICFEATURE$, increased risk of osteosarcoma, and decreased bone mass.	has_symptom
+5e75f8987b5a4f1464b67f3d473fc993f306fbce	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, @PHENOTYPICFEATURE$, increased risk of osteosarcoma, and decreased bone mass.	has_symptom
+e5141620a4e5d5a8d2f5ffc92845c67d6f4da5c5	Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, sparse hair, @DISEASE$, increased risk of osteosarcoma, and decreased bone mass.	false
+2368f3232796f3b6e23ed589b030d5ec99e0e457	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass.	false
+9b0658808334b63bf08fe78aa116b623156651fd	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass.	false
+56395a4830cc452e86069718f899eca2f1afee65	Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, sparse hair, skeletal abnormalities, increased risk of @DISEASE$, and decreased bone mass.	false
+aad2fa1b076d445615843a09209b25f7945c2fa5	Rothmund-Thomson syndrome (@DISEASE$) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+4f3b860051bbd8ac99067d7cf5607a0996549470	@DISEASE$ (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+10309e83b260031e350f62eb8c0dc8710978931e	Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6bbda51619a8327806c21f93e1f9431b7f92e0cb	Rothmund-Thomson syndrome (@DISEASE$) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+0336f4f75f8d08caaac0725702f68392da38aa2e	@DISEASE$ (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+a1489b50fd218f6b3b4a302ba58aa9e80c3ccdb4	@PHENOTYPICFEATURE$ are frequent in persons with @DISEASE$.	has_symptom
+d450b853fd33b7c2769833c607ef0ac4ad645930	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, @PHENOTYPICFEATURE$, juvenile cataracts, and predisposition to specific cancers.	has_symptom
+a4e3eb2edbb8f26ed59749e3f4c235c5c07627c0	@DISEASE$ (RTS) is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy, small stature, @PHENOTYPICFEATURE$, juvenile cataracts, and predisposition to specific cancers.	has_symptom
+d280d8411581d815e01b7328dc085a81f1177478	@DISEASE$ is a rare autosomal recessive genodermatosis, characterized by poikiloderma, small stature, juvenile cataracts, sparse hair, @PHENOTYPICFEATURE$, and a predisposition to osteogenic sarcomas and skin cancers.	has_symptom
+81c37d7861968821c341b90d60e384e401bbd1e2	The pathogenesis of @DISEASE$ is considered to be @PHENOTYPICFEATURE$ susceptibility and excitotoxicity, which may be caused by sodium channel dysfunction in some cases.	has_symptom
+7a2cd471bbe664e531a948e6f905ef33adda2e52	The same prevalence of fibroids was seen in the presence or absence of @DISEASE$: 37% versus 43%, endometriosis, 3% versus 5%, @PHENOTYPICFEATURE$, 27% versus 33%, or chronic pelvic pain in the presence of fibroids 12% versus 17%.	has_symptom
+a13a15337dd1769d1596cd8ba4c6a533beca72e2	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth.	has_symptom
+a87f86b0a9e23e1910a3ced6780c82cdd3846a7b	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, @DISEASE$, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	false
+6ed61fcfb4c70f582bbc3a277daaadf4fa061f0e	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	false
+311fbd7a55a1326de6955d9d26d9632a23b964b1	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @DISEASE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	false
+0be38d6a042b729cc92e98b0a0ef0bb19d62eef4	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	has_symptom
+d5bda4680b5504cbeadc35b83bc13899c22ba86b	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+f056a728c9e4c8ea289c6f3b89b15d87ca3c91de	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+ad7dccf010e886ad92367683d7fb1dd8839fc953	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+b325bbf9d24868f3974ca68082d7b75385a3d67c	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and @DISEASE$.	false
+eb74973ffd5b1cc5551408d8048c37fbc5404c78	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, @DISEASE$, short stature, and hypogonadism.	false
+3e02a54948d1954ae137bbce872e88dfb944a44d	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fda3aeb602bb537109a00afef6afb70f1d9012c6	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+c6c3d1f75db15827cdeb39f061db2a00c4378c00	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+7cc392ed98816a1652fd7807f8c65b245dbdce86	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+d02d3237c266c158560337bf3edb11ca87e90901	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+1dafa1237f19447a513a7752786157c5567528f1	A volumetric MRI analysis of longitudinal regional @PHENOTYPICFEATURE$ in @DISEASE$ (HD) was performed as a read-out of disease progression to calculate sample sizes for future clinical trials.	has_symptom
+2128f63920cada98c9b301347b8980f6ba27f3a8	Topography of @PHENOTYPICFEATURE$ in early @DISEASE$: a voxel based morphometric MRI study.	has_symptom
+3be7788787ea60f217fcc33a4d21bf8ea33f1686	Bicaudate index in computerized tomography of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+083f3aa9c753e6cd830148b00e277d7039d5bf04	Overall, these findings suggest that pathophysiological effects of @DISEASE$ may precede the development of overt clinical symptoms and detectable @PHENOTYPICFEATURE$.	has_symptom
+913c2e8e51a2624a1daaf0ab3c006139d458e954	Ventricular sizes on computerized tomographic (CT) scans were compared in seven patients with @DISEASE$, 20 patients with @PHENOTYPICFEATURE$, and 20 normal controls.	has_symptom
+84cdcf5a32c174ca65331f031312784e2c6ec28d	Global @PHENOTYPICFEATURE$ in early stages of @DISEASE$: quantitative MRI study.	has_symptom
+2391c61ea1c533b7ae229d25629290ab8fe635e6	Regional @PHENOTYPICFEATURE$ occurs in carriers of the @DISEASE$ (HD) gene mutation before clinical diagnosis is possible.	has_symptom
+f8558c7ca87e72cd73a5d7852451c29dd717ebf8	Clinical presentation and patterns of regional @PHENOTYPICFEATURE$ related to the length of trinucleotide repeat expansion in patients with adult onset @DISEASE$.	has_symptom
+c15b117e9c97233abd15d0012c82f98dda559e5e	Reduction in @PHENOTYPICFEATURE$ associated with ethyl-eicosapentaenoic acid treatment in patients with @DISEASE$.	has_symptom
+a3f75182ec34a3e86015f5962ee631090a4ca445	Combined @PHENOTYPICFEATURE$ score in @DISEASE$ based on atlas-based MRI volumetry: Sample size calculations for clinical trials.	has_symptom
+183a9e78ea0c4d411020422b6479dd0d9bee85ab	@DISEASE$ (rapid-onset @PHENOTYPICFEATURE$ with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) is a rare and complex disease, presenting in previously healthy children at the age of 2-4 years.	has_symptom
+5e29e2973a00966a314e19efa5acc3ca57e6d82e	Rapid-onset @PHENOTYPICFEATURE$ with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (@DISEASE$): A case report and literature review.	has_symptom
+f5a487769cf601e25320fadf0a224ffbaec0f6dc	To identify the underlying genetic etiology in a child with morbid early-onset @PHENOTYPICFEATURE$, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with @DISEASE$.	has_symptom
+e1c69218452f12aa4b82be16611837794fae2ae6	To prevent presumptive mortality and morbidity, @DISEASE$ should be considered in all cases of rapid and early-onset @PHENOTYPICFEATURE$ associated with hypothalamic-pituitary endocrine dysfunctions.	has_symptom
+e8a9de8bbd24b3cc249e988f80ccf89b1eb29e29	Features matching @DISEASE$ such as rapid-onset @PHENOTYPICFEATURE$, alveolar hypoventilation, central hypothyroidism, hyperprolactinemia, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	has_symptom
+7c0fa1d588015d3444439ae912496b35b39c2905	Features matching ROHHAD syndrome such as rapid-onset obesity, alveolar hypoventilation, @DISEASE$, @PHENOTYPICFEATURE$, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	false
+95174ed956f52e485ee4c2d00cc9d76510bfe2f7	Features matching ROHHAD syndrome such as rapid-onset @DISEASE$, alveolar hypoventilation, central hypothyroidism, @PHENOTYPICFEATURE$, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	false
+9491f14a48f47343586fa272854c2e177134dc7f	Features matching @DISEASE$ such as rapid-onset obesity, alveolar hypoventilation, central hypothyroidism, @PHENOTYPICFEATURE$, Raynaud phenomenon and hypothalamic hypernatremia were detected in the patient.	false
+d625b26d7573b1ab4a5c1b4f8917cbe3906a64aa	In addition, there are conditions of suspected autoimmune etiology such as febrile infection-related epilepsy syndrome (FIRES) and rapid-onset @PHENOTYPICFEATURE$, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (@DISEASE$) syndrome that are rare, but when they do present, it is often to the ICU.	has_symptom
+ac31f21b060299dfbea5fb6d5f94f0439f512504	Rapid-onset @PHENOTYPICFEATURE$ with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (@DISEASE$) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes.	has_symptom
+bf5ff63851d9d070784361c7f16d1c8b7b3c4a42	Anesthetic considerations for rapid-onset @PHENOTYPICFEATURE$, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (@DISEASE$) syndrome in children.	has_symptom
+49c5afaf64d0066a4eaaaad703ea20bf8257a842	In this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have @DISEASE$ due to his rapid-onset @PHENOTYPICFEATURE$ and alveolar hypoventilation.	has_symptom
+3dcd0bef1cc57ed5ad861c4cea9649951a1a6401	We report on a pediatric patient who presented with severe behavioral disturbance and developed organic symptoms including hypoventilation and dysautonomia and who was ultimately diagnosed with @DISEASE$ syndrome, a syndrome of rapid-onset @PHENOTYPICFEATURE$, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation associated with a neuroendocrine tumor.	has_symptom
+6e585e32390fcc04863eef02e99a5116c17475bf	@DISEASE$ (PH1) is an @PHENOTYPICFEATURE$, metabolic disorder caused by mutations of alanine-glyoxylate aminotransferase (AGT), a key hepatic enzyme in the detoxification of glyoxylate arising from multiple normal metabolic pathways to glycine.	has_symptom
+5026b470690fdccc976e0eac8423354660e4cb71	@DISEASE$ is a rare genetic condition characterized by @PHENOTYPICFEATURE$, growth retardation, delayed psychomotor development with absent or poor expressive language, distinctive facial features, hypotonia, laryngomalacia and obstructive sleep apnea.	has_symptom
+6885ba628055e64a1975b85af8e54ba8c4e9bb02	Xia-Gibbs syndrome is a rare genetic condition characterized by @DISEASE$, @PHENOTYPICFEATURE$, delayed psychomotor development with absent or poor expressive language, distinctive facial features, hypotonia, laryngomalacia and obstructive sleep apnea.	false
+052a3b0c5f1f7118fc70aeed1a85c451f68f77c0	@DISEASE$ is a rare genetic condition characterized by intellectual disability, @PHENOTYPICFEATURE$, delayed psychomotor development with absent or poor expressive language, distinctive facial features, hypotonia, laryngomalacia and obstructive sleep apnea.	false
+9a2182dad4ee44cb42b731e11f928f4e23e30992	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	has_symptom
+0c69d703577556f08ebd82d06c0b1fe997ed0451	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+79a92103a7db680392ebd78d6ebf12f63b7fa604	The boy is characterized by @DISEASE$, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+13883018a857c7ba8a39857a1486af27db026e81	The boy is characterized by @DISEASE$, developmental delay, short stature, expressive language delay, facial dysmorphism, @PHENOTYPICFEATURE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+57bb5cba1828d9b9ea6d6942bc06dfe84fff202c	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+81a2d79d35d0b6faf689977eafd084b22317a608	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, facial dysmorphism, @PHENOTYPICFEATURE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+3e0041091926cf51c1e5c6c6be141a50c5eee642	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+8017569573437f410d2479db1a60dc7cc125fac0	The boy is characterized by @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+7a249cf7e64b68677d5b7329af17b21e0529dce6	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, facial dysmorphism, @PHENOTYPICFEATURE$ and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+a603bf57a4b090a95ca36c77342a31eefda483ad	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+c59240a285069e60ceabcb8e2f6433f5ec400b4f	Mutations in the AHDC1 gene are associated with the @DISEASE$ (XGS), a sporadic genetic disorder characterised by developmental delay, @PHENOTYPICFEATURE$, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly.	has_symptom
+0972d0798a9a605b1f7e0a043a646a15678bd353	Mutations in the AHDC1 gene are associated with the @DISEASE$ (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, @PHENOTYPICFEATURE$, and cerebral malformations with plagiocephaly.	false
+abfdd24265a8a806d37f93deff4ebafcae376e73	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, @DISEASE$, hypotonia, obstructive @PHENOTYPICFEATURE$, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+00878ef0db0a51b2f0d2e2596f2ea5e7622d8311	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, @DISEASE$, hypotonia, obstructive sleep apnoea, @PHENOTYPICFEATURE$, and cerebral malformations with plagiocephaly.	false
+1caba9476be07ae91657e08ac097cf40ba1a2553	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic @DISEASE$ characterised by developmental delay, intellectual disability, hypotonia, obstructive @PHENOTYPICFEATURE$, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+19473c52b2d9de0dff9831eeb918cc1beb2e0d0f	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic @DISEASE$ characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, @PHENOTYPICFEATURE$, and cerebral malformations with plagiocephaly.	false
+ae6fbd10b224cff1bb991ea2f3f2797935b31c6d	Mutations in the AHDC1 gene are associated with the @DISEASE$ (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive @PHENOTYPICFEATURE$, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+36ada3f81a0d53f52edc0fd935adbb3a8c100215	@DISEASE$ (@PHENOTYPICFEATURE$, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	has_symptom
+812e5a4c2c958c43cbf2f02be9d31b503c216980	@DISEASE$ (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by @PHENOTYPICFEATURE$, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	has_symptom
+0395b361127f7921b1a123af520fbdfc196f1630	Xia-Gibbs syndrome (@DISEASE$, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental @PHENOTYPICFEATURE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+76a842cbe58746459f8d741f7d02833eed061241	@DISEASE$ (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental @PHENOTYPICFEATURE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+03645c537c5d62cd843725b10c6d172ed2f4710a	Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare @DISEASE$ characterized by mental retardation, developmental @PHENOTYPICFEATURE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+111887279a19a7d36ea59ab54141782de5a5934c	Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by @DISEASE$, developmental @PHENOTYPICFEATURE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+ae6a896e1a3686a41797a7a530b21911d7ebec6d	@PHENOTYPICFEATURE$ patients, except those with @DISEASE$, with/without a visually significant cataract were enrolled.	has_symptom
+4816d5c051a8f9bf30488930aa42a2a005a82763	Glaucoma patients, except those with @DISEASE$, with/without a visually significant @PHENOTYPICFEATURE$ were enrolled.	false
+722050665c24bb0bf1f7c8561c7e4e3f752083d3	@DISEASE$ patients, except those with neovascular glaucoma, with/without a visually significant @PHENOTYPICFEATURE$ were enrolled.	false
+410023c331296c73817eaf510d290fe1f6e301df	However, conditions like eyestrain, intermittent angleclosure @PHENOTYPICFEATURE$ or @DISEASE$, and low-grade intraocular inflammation can be painful and not be associated with obvious redness.	has_symptom
+d71a5fc69ded0695816b69748f3b58a584aca96f	The most frequent type of @PHENOTYPICFEATURE$ was the @DISEASE$ (55%).	has_symptom
+4df0aa6f4c3edc7492a2cf28489a5f906ac2bf9b	@PHENOTYPICFEATURE$ drainage implant surgery is a treatment option for the management of @DISEASE$.	has_symptom
+036af062db5933dcdd480d70a37381a226cd065a	@PHENOTYPICFEATURE$ drainage device implantation with adjunctive intravitreal bevacizumab in @DISEASE$: 3-year experience.	has_symptom
+4fa70a7d0be9a01935a35d85102e191ed68dd7e3	All eyes, except one with @DISEASE$, had had multiple @PHENOTYPICFEATURE$ surgery and all, without exception, were on maximal tolerated medical therapy prior to surgery.	has_symptom
+39de0d4d2e026452aa6e9fc92d38d56702c0bae2	Patients with @DISEASE$, with prior @PHENOTYPICFEATURE$ surgery, or without a close match were excluded.	has_symptom
+83948ca8d8bacf4a8af743dfab340224f0cbc87f	This case is the first report of an endocapsular hematoma following @PHENOTYPICFEATURE$ filtering surgery in a pseudophakic eye with @DISEASE$.	has_symptom
+9449c616ce0df56d63c9a9b75ab3fcb486b988f2	@DISEASE$ (NVG) is rare, comprising only 3.9% of all @PHENOTYPICFEATURE$ cases.	has_symptom
+90238811929fbc01ef4b04d7c56943bb2eee8a4b	@PHENOTYPICFEATURE$ was present in ten eyes (18%), four of which showed @DISEASE$.	has_symptom
+4e8c19ccd105abb6aea66bfdd2891846b0cf1ab0	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, diarrhea, vomiting, abdominal pain, and hemorrhage.	has_symptom
+ebd57987898556518063a1a3a4fcd803873196f5	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, @PHENOTYPICFEATURE$, abdominal pain, and hemorrhage.	false
+1455d8c57b743a1d7ceb0b4619ee73caa6fc367e	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, @DISEASE$, fatigue, diarrhea, vomiting, @PHENOTYPICFEATURE$, and hemorrhage.	false
+08a125d24803cd231bfa07bdfddf74304afde575	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, vomiting, @PHENOTYPICFEATURE$, and hemorrhage.	false
+44829ef4908ac815fef621f3622e3ef7c70c1daf	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, @DISEASE$, @PHENOTYPICFEATURE$, abdominal pain, and hemorrhage.	false
+4f795498fd8afcd02daa9b7c2a29cd585af1dbd0	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, @DISEASE$, vomiting, @PHENOTYPICFEATURE$, and hemorrhage.	false
+e9aba7532b0d7c41491eea34047df0f04cf5eef3	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, @DISEASE$, fatigue, diarrhea, @PHENOTYPICFEATURE$, abdominal pain, and hemorrhage.	false
+c6b93a87191afa09df4ff905c64a6fc552a31751	@DISEASE$ virus is a highly virulent pathogen capable of inducing a frequently lethal hemorrhagic @PHENOTYPICFEATURE$ syndrome.	has_symptom
+45c9afed30f872e4549b50cb5fe9cd006be57eb0	@DISEASE$ virus (EBOV) is a member of the filoviridae family that causes severe hemorrhagic @PHENOTYPICFEATURE$ during sporadic outbreaks, and no approved treatments are currently available.	has_symptom
+34ae8ffb842e3bef35ff362f72f126e97f2767a0	@DISEASE$ is a severe viral infection characterized by @PHENOTYPICFEATURE$, shock and coagulation defects.	has_symptom
+ec77f832e452f7bb6a939868792faed2caab7341	@DISEASE$ viral @PHENOTYPICFEATURE$, a highly contagious haemorrhagic disease has today become a major public health concern in the developing countries worldwide.	has_symptom
+4b49fc6f6d1c7a05f73e0ba541bd0651bf6d2092	@DISEASE$ and Marburg @PHENOTYPICFEATURE$, whose agents come from the same group of Filoviridae family, belong among these diseases.	has_symptom
+143360ece18ba56b75548db3382c326524e59183	Filoviruses such as @DISEASE$ virus and Marburg virus cause a severe haemorrhagic @PHENOTYPICFEATURE$ syndrome in humans for which there is no specific treatment.	has_symptom
+92e3cb1f85df14722a4cf0cfd7a437bfef29a5c1	Probably because of their particular immune system, bats can be considered an important reservoir for new emerging viral diseases like SARS-Coronavirus, Marburg @PHENOTYPICFEATURE$, @DISEASE$ and Nipah virus encephalitis.	has_symptom
+a23775b89cf2b7593971a6726b7e683b4b5cbd8f	@DISEASE$ virus infection causes a highly lethal hemorrhagic @PHENOTYPICFEATURE$ syndrome associated with profound immunosuppression through its ability to induce widespread inflammation and cellular damage.	has_symptom
+0a5dd348d5f2a4746add07a4ce0adaa6d050d802	All animals developed viremia, @PHENOTYPICFEATURE$, a hemorrhagic rash, and typical changes of @DISEASE$ in clinical laboratory tests.	has_symptom
+6e291fa0451b5e5c745e7aeef6f53737f635220f	Therefore, the objective of this study was to screen a large mixed-breed canine population for the presence of mutant alleles associated with five autosomal recessive disorders: hyperuricosuria and @PHENOTYPICFEATURE$ (HUU), cystinuria (CYST), factor VII deficiency (FVIID), myotonia congenita (MYC) and @DISEASE$ (PKFD).	has_symptom
+525eab71b15d81469a3d3d241e519908f7b9e58c	Type VII glycogenosis (muscle @DISEASE$) is attended by @PHENOTYPICFEATURE$ and hyperuricosuria.	has_symptom
+ef0af2d756a4ba438e96006f85cfb8c9625078ea	Association of keratitis, ichthyosis, and @PHENOTYPICFEATURE$ is known as @DISEASE$.	has_symptom
+f8d3681862e645e6618223a243a9033df76b42b8	[Hyperkeratosis, @PHENOTYPICFEATURE$ and keratitis (@DISEASE$).	has_symptom
+41f7c99bb714ccf06f1cdc4044b7bc2f326673b0	@DISEASE$ is a rare congenital disorder characterized by keratitis, ichthyosis, and @PHENOTYPICFEATURE$.	has_symptom
+503059bec783401ef24ab7f22c3f81104690dd89	[Diagnostics of keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome (@DISEASE$)].	has_symptom
+e88e2292b1227bf2af92e1fa6e99a782d5aa4add	@DISEASE$ (keratitis, ichthyosis, @PHENOTYPICFEATURE$).	has_symptom
+c3ccfaf27a2c283c3bb0689559edfb7e4c3ffafa	[@DISEASE$ (keratitis, ichthyosis and @PHENOTYPICFEATURE$)].	has_symptom
+cc91745ef28a9652e548322283dfb4aa65e7cb3a	[@DISEASE$ (keratitis-ichthyosis-@PHENOTYPICFEATURE$)].	has_symptom
+590052477c2e7efdc4e36bf8e0d0e3b9414d1cc1	Keratitis, ichthyosis and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+e133412348b6cf10e764b553847bbffa596ed3ef	The @DISEASE$ is a rare ectodermal dysplasia associating erythrokeratodermia, @PHENOTYPICFEATURE$ and keratitis.	has_symptom
+38ab296f3754e8ac658ac79f14ee804365bfcad5	Keratitis, ichthyosis and @PHENOTYPICFEATURE$ are the dominant signs of @DISEASE$.	has_symptom
+d8b5dc16b5601b701d6a9d4a7abab8eb58b58cdb	We report on a Japanese boy with @DISEASE$ who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, @PHENOTYPICFEATURE$, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	has_symptom
+1c73f29a6744400dfb57b096f7c9b8be745f9ddd	We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched @DISEASE$, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and @PHENOTYPICFEATURE$.	false
+0dae36a78b2fe9a098aed4979a75b7f00fc7cb29	We report on a Japanese boy with Noonan syndrome who had @PHENOTYPICFEATURE$, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, @DISEASE$, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+b90699aca461954c0d0866399432ca09be2294a6	We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, @DISEASE$, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and @PHENOTYPICFEATURE$.	false
+1bded9a5b640be61c9978c2c70d7e414921b0d4a	We report on a Japanese boy with @DISEASE$ who had @PHENOTYPICFEATURE$, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+addca871214e67f2a3bfd9ca7bab13cb3a7fed94	We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of @DISEASE$, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including @PHENOTYPICFEATURE$, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+42cdea3c7f529a0ffbc7d35f32c0c92e98910779	We report on a Japanese boy with Noonan syndrome who had @PHENOTYPICFEATURE$, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched @DISEASE$, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+68fbd0fce324c13789a5f488a4cbf3c485149bb0	We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of @DISEASE$, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and @PHENOTYPICFEATURE$.	false
+e12fdf6f18eafc31d563e1f6d9b2125e9eac80be	We report on a Japanese boy with @DISEASE$ who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including @PHENOTYPICFEATURE$, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+3c81b2b12b04464c303a156cc61032de07ebca1a	We report on a Japanese boy with @DISEASE$ who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and @PHENOTYPICFEATURE$.	false
+1ff23c688c9f39bc547e4580a4a1502bc8664e60	We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including @PHENOTYPICFEATURE$, epicanthic folds, low set malrotated ears, high arched @DISEASE$, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+09fdbec4aae72bd3848a7635e672a5b8e192fd4e	We report on a Japanese boy with Noonan syndrome who had @PHENOTYPICFEATURE$, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of @DISEASE$, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+671123684f22228228e4b80336c014b6b18d8390	We report on a Japanese boy with Noonan syndrome who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including @PHENOTYPICFEATURE$, epicanthic folds, low set malrotated ears, high arched palate, @DISEASE$, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and nail dysplasia.	false
+f0e662654138456ba6a7c6ddcf918db77a706c90	Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in @DISEASE$ (triangular facies, downward slanting palpebral fissures, @PHENOTYPICFEATURE$, short stature, and learning disability).	has_symptom
+54f37df2fdf0f5ab0eef3357dc76b010a63c5b15	Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in @DISEASE$ (triangular facies, downward slanting palpebral fissures, micrognathia, short stature, and learning @PHENOTYPICFEATURE$).	false
+9c6ee5e20211a5735d4faf0c4d5b738af7d6a56b	Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, @DISEASE$, short stature, and learning @PHENOTYPICFEATURE$).	false
+36329e82011da3f9274feb882d9f7c748f5ef31b	Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, @DISEASE$, @PHENOTYPICFEATURE$, and learning disability).	false
+ef7c3e098e53abfd3f37ecd5675b4db5804e32ea	Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in @DISEASE$ (triangular facies, downward slanting palpebral fissures, micrognathia, @PHENOTYPICFEATURE$, and learning disability).	false
+d40573f6bd381b93146237863e2b28bd3cf4e930	@DISEASE$ associated with @PHENOTYPICFEATURE$ requiring transplantation.	has_symptom
+ca5574ffae2d9d9595e79cbdeb368fc7229befd3	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$ in a young adult.	has_symptom
+5e35c8751b3a4f28744fe0b870b4506c9a2d5856	Patients with @DISEASE$, which among other symptoms also includes podocyte-associated @PHENOTYPICFEATURE$, suffer from mutations in the LMX1B gene.	has_symptom
+862442ce0d7a622ebbe2071dd3f60bfc2515f594	[Hereditary onycho-osteo-arthrodysplasia (@DISEASE$) with progressive @PHENOTYPICFEATURE$].	has_symptom
+c5fde593c5c6fc47dbd77a896751edbfad7ba714	A review of the incidence of @PHENOTYPICFEATURE$ in the @DISEASE$ suggests that renal involvement can no longer be regarded as benign and that immune mechanisms may be related to progressive renal disease in some cases.	has_symptom
+a2c94027b952fa220cc477fca5c9eb970c24ac8b	DNA ligase IV deficiency syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	has_symptom
+eac2ce654c7d00dd371239af68a79afbaa23fd15	@DISEASE$ syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	has_symptom
+07a9818eec73bfdbf79cb826cf2691c50a107e15	DNA ligase IV deficiency syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+71b1d1411141b493efa7923c699dc7421ce37d5e	DNA ligase IV deficiency @DISEASE$ (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+3a2a1403ef6aba9c9d29d44a3a9ed7bfb1aee14a	DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, @DISEASE$, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+730ba739516cc52d8a6a21dacaab466319088ce1	@DISEASE$ syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+e43d3b00f0b54436a96bf1771a9b397d6fe5ae2b	DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic @DISEASE$ findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+bbd67199084130dd33b250e60229acedf895d1cf	DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+eb25bebf50a6eb227d3beddbe222dc69f4bda0f7	Here we present an unusual case of @DISEASE$ syndrome without dysmorphic facial findings and @PHENOTYPICFEATURE$ complicated with Epstein-Barr virus-associated large B-cell lymphoma with the right lung involvement and a massive brain tumor lesion in a two-year-old female.	has_symptom
+185934e0cc8c9a1af0ffc2b2bca039244f9be9c7	Mutations in DNA Ligase IV result in @DISEASE$, which is characterised by growth defects, @PHENOTYPICFEATURE$, reduced number of blood cells, increased predisposition to leukaemia and variable degrees of immunodeficiency.	has_symptom
+86e7152d31338d5f79bbf57b809172ecc7a4bdb7	Together, these findings begin to uncover the pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$ and open avenues to more focused investigations on the critical roles of DSB formation and repair in vulnerable neuronal populations of the brain.	has_symptom
+6ec823070803622c15dfa61e0cbac80dc4ea4ee6	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	has_symptom
+9ce3942c6226f5ea435aef7cce9884c070fcc151	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	has_symptom
+9661d82016e067a1daf94c368c8932ce902728b6	@PHENOTYPICFEATURE$ and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	has_symptom
+204f9f3114739256aaa0fbca0b99b36ce9b8da71	Microcephaly and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	has_symptom
+27d2bc8b1412ea38fa93b8ced775916deb30445d	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+75304452cb0f596d52c97c1b37a91486550dcc02	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @DISEASE$, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+2a6ef4e1efd72f66f280024dadc53dd6cf3250eb	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 @DISEASE$).	false
+79e5509ef0ed44bc75a326ba1afc2f6fe1cd600f	Microcephaly and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+cf1bf5759656876bae59d678b248ede84a741feb	Microcephaly and @DISEASE$ are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+f2a055b50d8cd9387096df6f66a97207c59b1fb3	@DISEASE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+5d0bd661d155168d637d1842f92d952f521c041d	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	false
+f5f216cf14371fc5d8dd79b15c56398a3103262f	The clinical phenotype of Ligase IV syndrome (@DISEASE$), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.	has_symptom
+8690fa4137a088b9c1e3f0778e99c3daeaf8c3cf	The clinical phenotype of Ligase IV syndrome (@DISEASE$), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	false
+5e222d9241034994b3c02ec8e5fe21579358db82	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+37238c36727f621002408baed43b52f46e0ff873	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @DISEASE$, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	false
+1e410757b5205c2409971c3d37397480fba2ccfb	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (@DISEASE$), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	false
+a07be9ec0f271ea9f6b79977cde9d7d09ba38338	The clinical phenotype of Ligase @DISEASE$ (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	false
+a65c346f5786d7b36978005e954e52926d14831d	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of @DISEASE$ (NBS), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	false
+5cd4b03ecc3acdf193d18110fb94329c8b9b2e2a	The @DISEASE$-like (AHO-like) syndrome was recently defined as a rare dysmorphic syndrome including brachymetaphalangism and @PHENOTYPICFEATURE$.	has_symptom
+5473749e6a95a70de7cdfe411224c4179df01a09	This condition was associated with @PHENOTYPICFEATURE$, pseudohypoparathyroidism and @DISEASE$.	has_symptom
+eb37436413a54e8b9d1f6957fae495fe273d0742	Thus, although these patients may present with the @DISEASE$ (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, @PHENOTYPICFEATURE$ and brachydactyly, its manifestations are somewhat variable.	has_symptom
+da57b8aee4b586ed46e5ce334b2ba8ff08db326e	Thus, although these patients may present with the @DISEASE$ (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and @PHENOTYPICFEATURE$, its manifestations are somewhat variable.	false
+5d01670c843f4e80c427b4d1fa398bb08bf4270c	Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, @DISEASE$ and @PHENOTYPICFEATURE$, its manifestations are somewhat variable.	false
+1dca8fab1ad4173253b6090922c709776bedd5ce	Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, @PHENOTYPICFEATURE$ with a rounded face, subcutaneous ossifications, @DISEASE$ and brachydactyly, its manifestations are somewhat variable.	false
+aca80169fb477202d39f20e498c8ba316cef6bd7	Thus, although these patients may present with the @DISEASE$ (AHO) phenotype, which is characterized by @PHENOTYPICFEATURE$, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable.	false
+ed7f780d8e5ecc4c9e3eab17918b48d125fe4638	Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by @PHENOTYPICFEATURE$, obesity with a rounded face, subcutaneous ossifications, @DISEASE$ and brachydactyly, its manifestations are somewhat variable.	false
+555d7ee229782119d464c2ff26a6a831c2546fb5	Thus, although these patients may present with the @DISEASE$ (AHO) phenotype, which is characterized by small stature, @PHENOTYPICFEATURE$ with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable.	false
+87d0a3f7cb365d9facb25ada80def3823d986692	We report five patients with a combination of brachymetaphalangia and @PHENOTYPICFEATURE$, similar to that observed in @DISEASE$ (AHO).	has_symptom
+3dfdf1b422695c748502626ee14a7607bbe0f81e	@DISEASE$ (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity, round facies, cutaneous osteomas, and @PHENOTYPICFEATURE$.	has_symptom
+7d549fcf871a3b30a7fd41378b5418e685147c75	@DISEASE$ (AHO) is characterized by a symptom complex including @PHENOTYPICFEATURE$, brachymetacarpia, obesity, round facies, cutaneous osteomas, and mental retardation.	false
+9d6bd1ea85ec1e4037614a74ea98517fe2850e3c	Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including @PHENOTYPICFEATURE$, brachymetacarpia, obesity, round facies, cutaneous osteomas, and @DISEASE$.	false
+e25ae2643f0409bd6a553c2f1e1cf51355438efd	Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, @PHENOTYPICFEATURE$, round facies, cutaneous osteomas, and @DISEASE$.	false
+6cc189a7b8e5016adb7d92b3e0c367e570d3821d	@DISEASE$ (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, @PHENOTYPICFEATURE$, round facies, cutaneous osteomas, and mental retardation.	false
+f3376072d62776bd74f030b355c6ee38d81dc23b	In this report, we describe two unrelated patients with @PHENOTYPICFEATURE$ and brachydactyly E classified as patients suffering from @DISEASE$-like (AHO-like) syndrome.	has_symptom
+bdf4551c44bbde13603eac02eb2377ff711f9fa2	In this report, we describe two unrelated patients with @DISEASE$ and @PHENOTYPICFEATURE$ E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome.	false
+d846ceb3fd150d5bf88467ba61d779672a66d25b	In this report, we describe two unrelated patients with mental retardation and @PHENOTYPICFEATURE$ E classified as patients suffering from @DISEASE$-like (AHO-like) syndrome.	false
+5274369de16bbc44926e1dd9459bd2621730e21f	In this report, we describe two unrelated patients with mental retardation and @PHENOTYPICFEATURE$ E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) @DISEASE$.	false
+58b4142b3a8e0ad926808e00844f83e614723c2b	Her phenotype was in favor of @DISEASE$: short stature, obesity, round face, brachymetacarpy and @PHENOTYPICFEATURE$.	has_symptom
+ba84a7c509d49c8f5a3666987b559a1ad5090cfb	Her phenotype was in favor of Albright's hereditary osteodystrophy: short stature, @PHENOTYPICFEATURE$, round face, brachymetacarpy and @DISEASE$.	false
+2c4246b663ca4a56f3f58e2365459de077c958b9	Her phenotype was in favor of @DISEASE$: @PHENOTYPICFEATURE$, obesity, round face, brachymetacarpy and mental retardation.	false
+f03db2ef80c640ccc6da5abe8e62e8c50cfdb8d8	Her phenotype was in favor of Albright's hereditary osteodystrophy: @PHENOTYPICFEATURE$, obesity, round face, brachymetacarpy and @DISEASE$.	false
+b7e9e8e4d81a794c49e5d17618fcd0e9e1d92b4c	Her phenotype was in favor of @DISEASE$: short stature, @PHENOTYPICFEATURE$, round face, brachymetacarpy and mental retardation.	false
+439584609bb77cc11808a67c3024eb6dbcb1fa1c	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and @PHENOTYPICFEATURE$.	has_symptom
+aa167e4286ce431171ea577d50d9094b9b2175be	@DISEASE$ (AHO) is characterized by @PHENOTYPICFEATURE$, round face, calcifications, obesity, brachydactyly and intellectual disability.	false
+5ceae070b9d3dd5e40bc7d80119b9395a87024c3	Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+713d520e941e9a971b010ff550bf9d1fd8ef8238	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, obesity, @PHENOTYPICFEATURE$ and intellectual disability.	false
+2a8e4376f711fed2ea4f2e9dc2cf0735223aa043	Albright's hereditary osteodystrophy (AHO) is characterized by @PHENOTYPICFEATURE$, round face, calcifications, obesity, brachydactyly and @DISEASE$.	false
+780ae05ad20da84981ff5dbc20a54a4bbc36efdc	Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, @PHENOTYPICFEATURE$, brachydactyly and @DISEASE$.	false
+940855ee20cc9144908a7cac8d33bd11b282fdb1	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, @PHENOTYPICFEATURE$, brachydactyly and intellectual disability.	false
+1108203e43917fa35ed94ac7f01a54e19329357c	@DISEASE$ (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and @PHENOTYPICFEATURE$.	has_symptom
+f588ecf6c54326f0b815be89e5bb0d8e0c1fc582	Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, @PHENOTYPICFEATURE$, obesity, and @DISEASE$.	false
+ccc41db8be866c4f42530750f59910880e5939c7	@DISEASE$ (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, @PHENOTYPICFEATURE$, and mental retardation.	false
+55eb87ea7515d9fdd5ec032edac06c672b5dad93	@DISEASE$ (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, @PHENOTYPICFEATURE$, obesity, and mental retardation.	false
+b1971991c8ebf2b317847a386e9c4d64985bbddf	Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fd5ce0c89aed327e19ad5844702d9dad0b473324	The patient suffered from @PHENOTYPICFEATURE$ and spastic tetraparesis and had all the features of @DISEASE$ with a normal response to parathyroid hormone in the Ellsworth-Howard test.	has_symptom
+43fdd2724f7a89f45b71120468dbca5d626b387a	@DISEASE$ (CDA) is a rare disorder, characterized by the association of ineffective erythropoiesis, variable degree of @PHENOTYPICFEATURE$, and erythroblastic morphological abnormalities.	has_symptom
+a8ffb6deaae24390803603174f982e4073d7049d	We report the second case of @DISEASE$ associated with myelomenigocele, Arnold-Chiari malformation and @PHENOTYPICFEATURE$ and the first in a male.	has_symptom
+8c89987566f4ebd236050586d37637bbab334963	Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and @PHENOTYPICFEATURE$ with a review of neurologic manifestations of @DISEASE$.	has_symptom
+8d3afa6cdc9f0f9d4dccd5ff266387c2df93cadd	@DISEASE$: report of a case with myelomeningocele, Arnold-Chiari malformation and @PHENOTYPICFEATURE$ with a review of neurologic manifestations of Goltz syndrome.	has_symptom
+a9607f9077cef021241beda4cadf5e4868be51ed	Myelomeningocele, Arnold-Chiari anomaly and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b1e5fb2e9fc086c1ed83fe9bd200e540f2a97803	Inactivating mutations in TRNT1 have been previously shown to cause a severe congenital syndrome of sideroblastic anemia, B-cell immunodeficiency, recurrent fevers and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+11ef357c334e59a862dfcdb87740d9a3d06ef689	Specifically trials of everolimus for patients with @DISEASE$ suggest that this agent may be safe and effective in treating @PHENOTYPICFEATURE$ tumor burden.	has_symptom
+b5ed8fb95f350e9952c01066ae7ae6b93803b802	Specifically trials of everolimus for patients with @DISEASE$ suggest that this agent may be safe and effective in treating angiomyolipoma @PHENOTYPICFEATURE$ burden.	false
+c9ed79a20c8dd6abe6e003b9297736f7150be493	Specifically trials of everolimus for patients with tuberous sclerosis complex suggest that this agent may be safe and effective in treating @DISEASE$ @PHENOTYPICFEATURE$ burden.	false
+de2eb0c28bbaef39363f565af6109978ce81ef35	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to @PHENOTYPICFEATURE$, childhood hypotonia and facial dysmorphisms.	has_symptom
+24566e2695c6556ad2467f36366030b0595756cb	The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to @DISEASE$, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+281515810f4594548173497f0cbd86c87052d46f	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+ec82271fc37b0ae62d464e10996a2ec780190cb7	The natural progression of the severe form of @DISEASE$ II in children is a rapid decline of neurodevelopmental function with @PHENOTYPICFEATURE$.	has_symptom
+86e0ae43ad1ad630d73f553345f0b69f25ec070c	We report a child with clinical features and laboratory data consistent with @DISEASE$ I who precociously developed @PHENOTYPICFEATURE$ and flexion spasms with hypsarrythmia in the electroencephalographic registration characteristic of West's syndrome.	has_symptom
+0253e30754180f5fe0d44e1c1e42ec8c7834d179	@DISEASE$ I and intracranial tumor in a patient with high-pressure @PHENOTYPICFEATURE$.	has_symptom
+6c4412f975a0506ffd2ff44cbc51c7ca0735939b	Mucopolysaccharidosis I and intracranial @PHENOTYPICFEATURE$ in a patient with high-pressure @DISEASE$.	false
+b683b2de626ab470edb279e5b5a648d08ab3f786	@DISEASE$ I and intracranial @PHENOTYPICFEATURE$ in a patient with high-pressure hydrocephalus.	false
+1ad227ff61a82972c2fc9b2403a71bb0f4bd003a	One @DISEASE$ I-H (Hurler's Syndrome) found in 3 months infant, was complicated with an @PHENOTYPICFEATURE$ at the age of 5 months.	has_symptom
+40ce56bbe3db547ab58e95f017fbd37026f6f0b3	A total of 485 @DISEASE$ patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 @PHENOTYPICFEATURE$ [FTC], 50 anaplastic thyroid carcinoma, 65 medullary thyroid carcinoma, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+7034656af250689d05e43228e14db01b16214e46	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 @PHENOTYPICFEATURE$ [FTC], 50 @DISEASE$, 65 medullary thyroid carcinoma, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+22ef25fcdbbded66b57cf50145db574c23ba02a5	A total of 485 @DISEASE$ patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 follicular thyroid carcinoma [FTC], 50 anaplastic thyroid carcinoma, 65 @PHENOTYPICFEATURE$, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+f4bb2d87c66a18ac8257ac77c162d18d034d18e8	A total of 485 @DISEASE$ patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 @PHENOTYPICFEATURE$, 156 follicular thyroid carcinoma [FTC], 50 anaplastic thyroid carcinoma, 65 medullary thyroid carcinoma, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+cf0c9855b724fdaea3726e16939a0d543b774949	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 @PHENOTYPICFEATURE$, 156 follicular thyroid carcinoma [FTC], 50 @DISEASE$, 65 medullary thyroid carcinoma, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+1b3a8c8ced9673217a8688c6c9fae2c90c467081	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 follicular thyroid carcinoma [FTC], 50 @DISEASE$, 65 @PHENOTYPICFEATURE$, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+5c1677e1849d69e799356f2ae520fd415db380c4	Therefore, additional @PHENOTYPICFEATURE$ in @DISEASE$ may be a coherent and synchronic defect in the primary developmental field rather than a causally independent malformation.	has_symptom
+ae3292e34b7502547fda7a389bdb04359d81330a	She also had fasting @PHENOTYPICFEATURE$ and hypercalcemia, and she was diagnosed of @DISEASE$A.	has_symptom
+d5b39db9cebcda97de7ff09ebb0acbeed0e08295	She also had fasting hypoglycaemia and @PHENOTYPICFEATURE$, and she was diagnosed of @DISEASE$A.	false
+68bdf4d2c77f14250ede3447a7ff9a852ce5fad6	She also had fasting @DISEASE$ and @PHENOTYPICFEATURE$, and she was diagnosed of Multiple Endocrine Neoplasia type 1A.	false
+1a6424fe987825585c0c92a77ac5864a550553b5	@DISEASE$- presenting multiple lipomas and @PHENOTYPICFEATURE$ onset.	has_symptom
+a6917f4a83b68d1af23c572641ea410722b57901	A 42-year-old woman with a family history of @DISEASE$ (MEN 1) presented with symptomatic @PHENOTYPICFEATURE$ and peptic ulceration.	has_symptom
+fded26de917b057252b7ce0bf82eb1709151968c	Partial deficiency of cytochrome c oxidase with isolated @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+628e6b2747b1bf535226b8a4f872f455748fc723	We report the case of a 5-year-old boy with mitochondrial cytopathy due to a partial deficiency of cytochrome c oxidase who had isolated @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+bf404325b02fcf5ffef206b88035d752816d877c	In all cases the manifestations of osteomalacia or rickets were controlled with large doses of vitamin D. In the child the rickets and @PHENOTYPICFEATURE$ ceased when most of the bone affected by @DISEASE$ was surgically resected.	has_symptom
+3bc63c7e6ed5e333c9a302b5898062610c11699f	@DISEASE$ (FD) can be associated with the development of @PHENOTYPICFEATURE$ osteomalacia, caused by the production of FGF-23 by dysplastic bone tissue.	has_symptom
+23e46b13c782ce0926fa9ca3be086c6bab0fa31f	Twenty-seven cases of @DISEASE$ (PAN) with @PHENOTYPICFEATURE$ are reported.	has_symptom
+075abff82d71a9d365bd35076f4f2084090601be	The @PHENOTYPICFEATURE$ seen with necrotizing angiopathy is said to begin classically as a mononeuritis multiplex, usually associated with @DISEASE$, rheumatoid arthritis, or systemic lupus erythematosus.	has_symptom
+40d4ca8e84c2a7a07ba589d8477dd444d4871e6b	@PHENOTYPICFEATURE$ associated with bronchial asthma, multisystem organ dysfunction and idiopathic hypereosinophilia may be found in Churg-Strauss syndrome, hypereosinophilic syndrome and @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0408b5c74d2370f749c7793d07bdddba36d4d659	HBV associated @DISEASE$ patients have higher weight loss, @PHENOTYPICFEATURE$, mononeuritis multiplex, abdominal pain, gastrointestinal manifestations requiring surgery, cardiomyopathy, orchitis, hypertension, and/or elevated transaminase levels.	has_symptom
+b18f603b68fea727ab6a172793d675fa4434558d	HBV associated PAN patients have higher weight loss, peripheral neuropathy, mononeuritis multiplex, @PHENOTYPICFEATURE$, gastrointestinal manifestations requiring surgery, @DISEASE$, orchitis, hypertension, and/or elevated transaminase levels.	false
+d7eb0eba4d54cc5dbc08bdc436758b6d3f7d4a2e	HBV associated PAN patients have higher weight loss, @DISEASE$, mononeuritis multiplex, @PHENOTYPICFEATURE$, gastrointestinal manifestations requiring surgery, cardiomyopathy, orchitis, hypertension, and/or elevated transaminase levels.	false
+5b845533b77df22f37f406fbf120d8ce3f475186	HBV associated @DISEASE$ patients have higher weight loss, peripheral neuropathy, mononeuritis multiplex, @PHENOTYPICFEATURE$, gastrointestinal manifestations requiring surgery, cardiomyopathy, orchitis, hypertension, and/or elevated transaminase levels.	false
+076805630c4418e18901238c74a826de5ef8a296	@DISEASE$ (PAN) is a vasculitis affecting elderly people and manifested by a general deterioration, unexplained fever and @PHENOTYPICFEATURE$ or muscular weakness.	has_symptom
+32cde5bd82d4b3bafc229d9b5d2bc8a079420ea0	@DISEASE$ (PAN) is a vasculitis affecting elderly people and manifested by a general deterioration, unexplained fever and peripheral neuropathy or @PHENOTYPICFEATURE$.	false
+39fff456070d00385352e66fea90258fa23b722c	Periarteritis nodosa (PAN) is a vasculitis affecting elderly people and manifested by a general deterioration, unexplained fever and @DISEASE$ or @PHENOTYPICFEATURE$.	false
+43be126f57affc939be0b73f70dbc7aca77b3bf7	Periarteritis nodosa (PAN) is a @DISEASE$ affecting elderly people and manifested by a general deterioration, unexplained fever and peripheral neuropathy or @PHENOTYPICFEATURE$.	false
+c8e7981e4e4fb948a905cc0e8372c9d24fc28306	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, fever, asthenia, @PHENOTYPICFEATURE$, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and cardiac failure.	has_symptom
+22c3392b00c3e2c7c7e418e929e6f16d68f66de2	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, @PHENOTYPICFEATURE$, asthenia, peripheral neuropathy, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and cardiac failure.	false
+bb3c8879850e8f9a65c67d99e1f603851aa6d7c9	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, fever, asthenia, peripheral neuropathy, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and @PHENOTYPICFEATURE$.	false
+5d2a9ef32ecf091b476115fa57750bb95daff92c	Polyarteritis nodosa (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, @PHENOTYPICFEATURE$, asthenia, @DISEASE$, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and cardiac failure.	false
+8e75b2ec2213cdee94cae7d8ee2dea9c74cc8090	Polyarteritis nodosa (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, fever, asthenia, @DISEASE$, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and @PHENOTYPICFEATURE$.	false
+0678373f2612892881725ba38ebfe37a8e0e01af	@PHENOTYPICFEATURE$ is one of the most frequent and earliest symptoms, affecting 50% to 75% of @DISEASE$ patients.	has_symptom
+464008408a3064a15976296be977a3163ad5cc66	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, fever, @PHENOTYPICFEATURE$, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	has_symptom
+c7a8fa089deea46e5ff23bb9912373e6ee48fe1b	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, @PHENOTYPICFEATURE$, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	false
+26c20adc87a3e32c2b4ba7ce30e8e2923bc07bb9	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, fever, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+e29af5422f01848387a9a6141476244aa91cf947	Polyarteritis nodosa (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, @PHENOTYPICFEATURE$, @DISEASE$, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	false
+a88b20cba69043e7d59d09125c3157a3d4a5b453	Polyarteritis nodosa (PAN) is a necrotizing @DISEASE$ affecting medium-sized vessels whose main manifestations are weight loss, fever, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+808791d8b7d5cd0f99d13ffa844fc457e11940ae	Polyarteritis nodosa (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, fever, @DISEASE$, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+932b2671ca5aeaf6c496972e08f52b9e60a2e3d3	Polyarteritis nodosa (PAN) is a necrotizing @DISEASE$ affecting medium-sized vessels whose main manifestations are weight loss, @PHENOTYPICFEATURE$, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	false
+4d3a4f0d14ad47ca4625f906daccfd170f93d03d	After eliminating those with baseline cardiovascular disease, we analyzed data on HIV status, age, sex, race/ethnicity, hypertension, diabetes mellitus, dyslipidemia, smoking, hepatitis C infection, body mass index, renal disease, @PHENOTYPICFEATURE$, substance use, CD4 cell count, HIV-1 RNA, antiretroviral therapy, and incidence of @DISEASE$.	has_symptom
+e158f7f954acc59e561e5706be5d3fe103c0916f	In conclusion, these findings suggest that bleeding complications are a potential mechanism for increased mortality among patients who have @PHENOTYPICFEATURE$ and present with @DISEASE$.	has_symptom
+24c15a3833c39282d1b772c8b02fea1de74dbb5e	Herein, we report the case of a patient with @DISEASE$ who initially presented with hepatomegaly, @PHENOTYPICFEATURE$, and leukoerythroblastosis.	has_symptom
+9ed00496f90106533cd5f5fb7cd7aa9cbccf4984	Cardiorenal @PHENOTYPICFEATURE$ syndrome has recently been receiving greater attention; however, data regarding the relationship between chronic kidney disease (CKD)/anemia on presentation and in-hospital outcome in patients with acute myocardial infarction (AMI) undergoing primary percutaneous coronary intervention (PCI) are still limited in Japan.A total of 1,447 primary PCI-treated @DISEASE$ patients were classified into 4 groups according to the presence of CKD and/or anemia on hospital admission (with CKD/with anemia n = 222, with CKD/without anemia n = 299, without CKD/with anemia n = 151, without CKD/without anemia n = 775).	has_symptom
+ea84f9ef1761887d75318fe660a8586e1908ae5c	@DISEASE$ (IMF) is generally characterized by bone marrow (BM) fibrosis, @PHENOTYPICFEATURE$, splenomegaly and a leuko-erythroblastic blood picture.	has_symptom
+3b760988cdbc6a2d5957abdd0ad19bf5493209e5	Primary myelofibrosis (PMF) is an acquired clonal disease of the hematopoietic stem cell compartment, characterized by @DISEASE$, @PHENOTYPICFEATURE$, splenomegaly and extramedullary hematopoiesis.	has_symptom
+e9c42368d0a44459d130a304f8700a85c22bf21b	@DISEASE$ (PMF) is an acquired clonal disease of the hematopoietic stem cell compartment, characterized by bone marrow fibrosis, @PHENOTYPICFEATURE$, splenomegaly and extramedullary hematopoiesis.	has_symptom
+e9fbaee45febdccd3b9c834a8fc18376b00a59df	Mutation in DNA repair genes may results in rare genetic disorders, including @DISEASE$, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, @PHENOTYPICFEATURE$ teleangiectasia, Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome.	has_symptom
+cda8ad9e921baf5ff36921ecfb0ad076eea4f0b1	@DISEASE$/de sanctis-cacchione syndrome: unusual cause of @PHENOTYPICFEATURE$.	has_symptom
+dfb6e17499dede8c9170de59f5965a70b8f51f28	@DISEASE$ is an X-linked disorder clinically characterized by the triad of hypertrophic cardiomyopathy, myopathy, and @PHENOTYPICFEATURE$.	has_symptom
+345d31de6d9cae200f44e2e1cce9b50056d3227e	Cardiomyopathy, skeletal myopathy and @PHENOTYPICFEATURE$ are the typical triad of @DISEASE$.	has_symptom
+c6627b1964056b60883e0384e4f5a93562ebed9e	@DISEASE$ is a rare entity associated with the clinical triad of @PHENOTYPICFEATURE$, skeletal myopathy, and severe hypertrophic cardiomyopathy.	has_symptom
+2326748dd16e59ec17c26eb7fad9b780fa91cd7f	Danon disease (DD) is a rare @DISEASE$, which is characterised clinically by cardiomyopathy and myopathy, and a variable degree of @PHENOTYPICFEATURE$.	has_symptom
+62e3d2b74769e39154450272d360dbbfdbb05025	@DISEASE$ (DD) is a rare lysosomal glycogen storage disease with normal acid maltase activity, which is characterised clinically by cardiomyopathy and myopathy, and a variable degree of @PHENOTYPICFEATURE$.	has_symptom
+b5d18b72ee9f9b8d6e5121530a37d48febe60ad6	@DISEASE$ (DD) is a rare disorder characterized by cardiomyopathy, @PHENOTYPICFEATURE$, and proximal myopathy.	has_symptom
+cebdd22cda18ff8d36dd81532591d74fb8c50b09	@DISEASE$ is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal myopathy and @PHENOTYPICFEATURE$.	has_symptom
+e89a26f8d640d473a5a208dd77cbab3c5ebf4d62	@DISEASE$ is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal @PHENOTYPICFEATURE$ and mental retardation.	false
+f4278aace9f801f3967e71405766fc9903816e65	Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b609c683cf87b4ad4ee4638cb184ba9e6ac021fb	Danon disease is clinically characterized by the triad of @DISEASE$ (HCM), proximal @PHENOTYPICFEATURE$ and mental retardation.	false
+fcd5c6616613e02b72c4ef91793b836714149a3e	@DISEASE$ is characterized by hypertrophic cardiomyopathy, skeletal myopathy, @PHENOTYPICFEATURE$ and retinopathy.	has_symptom
+851ed808e63060f26dfe914f48d0aed26ef57aa1	@DISEASE$ is an X-linked disorder with the clinical triad of cardiomyopathy, skeletal myopathy, and @PHENOTYPICFEATURE$.	has_symptom
+4b96563ec14e81b405bf674cc3d7b180ac87f453	@DISEASE$ is an X-linked dominant inherited disease characterized by cardiomyopathy, squeletal myopathy and @PHENOTYPICFEATURE$.	has_symptom
+3deaceaf84e9451e25b09251390a4d60db927627	@DISEASE$ is an X-linked systemic disorder characterized by left ventricular hypertrophy, @PHENOTYPICFEATURE$, and skeletal myopathy affecting young men.	has_symptom
+e9bb0e44cf34830c1090e87e651082c4a6382739	The @DISEASE$: familial @PHENOTYPICFEATURE$ with saddle nose, spinal alterations and metaphyseal striation.	has_symptom
+23056107456c34ac8c94cba514b0a88446a5a93d	The @DISEASE$ (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, @PHENOTYPICFEATURE$ of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia.	has_symptom
+28bf5ea6d4ef8c0c96995e8e77609df32cd987ad	The @DISEASE$ (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and @PHENOTYPICFEATURE$.	false
+46d1b8109573180098d1c6377d210674387e7939	The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, @DISEASE$ of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and @PHENOTYPICFEATURE$.	false
+56076230789117bf56dd65740f4ace40d862497b	All these symptoms can present in different combinations and severity leading to distinct clinical phenotypes beyond the sleep disorder: bulbar syndrome; syndrome resembling progressive supranuclear palsy; cognitive impairment, sometimes with chorea, mimicking @DISEASE$; @PHENOTYPICFEATURE$; and stiff-person-like syndrome.	has_symptom
+608c4d1461026345c9c041bde80bb6a21d1d0302	Eye movement abnormalities in familial @PHENOTYPICFEATURE$ syndrome should lead to the suspicion of a storage disorder, including @DISEASE$, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	has_symptom
+425b49674543cbbe3ccfe7c61961f9765dc8b1c0	@PHENOTYPICFEATURE$ in familial @DISEASE$ syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+1157bb2419a2d4429309fe29ad92b41f22a82e0a	@PHENOTYPICFEATURE$ in familial mental retardation @DISEASE$ should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+4cca55726b75856b933dff505a1353d28b3f7c37	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including @DISEASE$, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+4fcf591b7f8289e53a8c63181c6e3a2ced6422ea	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and @DISEASE$.	false
+fd1b8733e3a488ace662811d6ebda2f1af36e413	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, @DISEASE$ and Wilson's disease.	false
+970abaaa70c1d060b5465c125fcf36a02d0589a7	Compared to 56 patients with bacterial pneumonia, @DISEASE$ patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of fever and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and @PHENOTYPICFEATURE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	has_symptom
+94585df0455e4644f9693a42bdcfefa8ce6deb66	Compared to 56 patients with bacterial pneumonia, PCP patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @PHENOTYPICFEATURE$ and of diffuse @DISEASE$ (diffuse crackles, bilateral infiltrates, and hypoxemia), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+b61456bc9af87302fd82a40f8c4791477be95a38	Compared to 56 patients with bacterial pneumonia, PCP patients were more likely to have @DISEASE$ and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @PHENOTYPICFEATURE$ and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and hypoxemia), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+9e0d0c06a75ace6cfe5f0f2aa7be0f41318776c3	Compared to 56 patients with @DISEASE$, PCP patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @PHENOTYPICFEATURE$ and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and hypoxemia), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+9ef0ca283753a939b93b765c5b570282b06bc3e8	Compared to 56 patients with bacterial pneumonia, PCP patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @PHENOTYPICFEATURE$ and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and @DISEASE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+25fd6ea63a3a8b5db38a2cfe8886efcaacfe1837	Compared to 56 patients with bacterial pneumonia, @DISEASE$ patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @PHENOTYPICFEATURE$ and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and hypoxemia), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+03796b995a54e249138dbddb5096bf2599e360e9	If an infection with Borrelia proceeds unchecked, the disease can also enter a chronic stage, leading to the development of @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+84425cd069900f41b3b0e05180cd55d633b7506d	@DISEASE$ (LE) is a Central Nervous System disorder following an upper respiratory tract infection, characterized by @PHENOTYPICFEATURE$, clinical symptoms corresponding to basal ganglia involvement and in some cases, neuropsychiatric sequelae.	has_symptom
+1c4c87855b5475010c7c64de3dec89d24ea4c0d9	On the diagnosis of the @DISEASE$ and cardiac @PHENOTYPICFEATURE$.	has_symptom
+3a94d1156653ec8dda2d96fc8030a62201bea924	Of the 84 patients, seven had underlying liver cirrhosis, including two with @DISEASE$ and one with cardiac @PHENOTYPICFEATURE$.	has_symptom
+d0289f4d561013d8ce2f9233178fe857ca31a31d	Gorlin-Goltz syndrome or @DISEASE$ is an @PHENOTYPICFEATURE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	has_symptom
+5a82f9a0a8b82775abee69f01b0ccf091989ebf7	@DISEASE$ or basal cell nevus syndrome is an @PHENOTYPICFEATURE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	has_symptom
+55cc41919c6aceed40bca1ae88ac69ea6081ed23	@DISEASE$ or basal cell nevus syndrome is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+a25ef092041ed1900b71c8882a4f5062d94ccaf6	Gorlin-Goltz syndrome or basal cell nevus syndrome is an @DISEASE$ syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+91159e0d4a55a70c218b0c35c70304d5cd3c4957	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant @DISEASE$ characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @PHENOTYPICFEATURE$.	false
+b872774e3098ad8c7cda2ce1cd931583d94b8fb4	@DISEASE$ or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @PHENOTYPICFEATURE$.	false
+a1ef7eabafe2d8c7b9e3aff59fd9bef846f69e74	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple @DISEASE$, which may be accompanied by falx cerebri calcification.	false
+bdb824f485460f1a9eadd6104c1728b94332c4e7	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+11286bc5c1eebc104cfa0b339d4564f61713c0bc	Gorlin-Goltz syndrome or @DISEASE$ is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+818455a047f702bcd216fd30b67e2bb1156cc151	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple @DISEASE$, which may be accompanied by falx @PHENOTYPICFEATURE$.	false
+5dfb54486b1fcc58587d8a9b1e90c4ff7dfa5adc	Gorlin-Goltz syndrome or basal cell nevus syndrome is an @DISEASE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @PHENOTYPICFEATURE$.	false
+e76e0092e7c741d4763a5ee45b81f09fdbff92d9	Gorlin-Goltz syndrome or @DISEASE$ is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @PHENOTYPICFEATURE$.	false
+373c08f46a18e9887b52e9d42e4647c78f311ef2	The nevoid basal cell carcinoma syndrome, or @DISEASE$, is an @PHENOTYPICFEATURE$ multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously.	has_symptom
+d83644f871f2c0580197bb4e216221740ec38979	The @DISEASE$, or Gorlin-Goltz syndrome, is an @PHENOTYPICFEATURE$ multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously.	has_symptom
+775115f584d7ed1af97344f736f6ccfff6142956	The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple @DISEASE$ with high penetrance and @PHENOTYPICFEATURE$, although it can also arise spontaneously.	false
+d2b5f166f09542810822ca703e508cd18bf0154b	The @DISEASE$, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and @PHENOTYPICFEATURE$, although it can also arise spontaneously.	false
+ef578590cddbcd74f0275bd3746b97028287ad75	The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an @DISEASE$ multiple system disorder with high penetrance and @PHENOTYPICFEATURE$, although it can also arise spontaneously.	false
+5ea8c76f74d6d6e7ea063e1e7d95608d2a96ba85	The nevoid basal cell carcinoma syndrome, or @DISEASE$, is an autosomal dominant multiple system disorder with high penetrance and @PHENOTYPICFEATURE$, although it can also arise spontaneously.	false
+8b254af65f890d10e5be549c7ffe8354ab80fda6	In summary, the association of @PHENOTYPICFEATURE$ deformity with @DISEASE$ is more common than previously reported.	has_symptom
+5f6ed9bddb81e206da8e265e58b7c83d4282a1d0	It was not always evident to the surgeon treating these patients that @DISEASE$ syndrome was present in addition to @PHENOTYPICFEATURE$ deformity.	has_symptom
+7cdf67db8745598b257dc0a9e9ccf6bd81430334	Such cases are acanthosis nigricans, Leser-Tr?lat's sign, dermatomyositis, atypical @PHENOTYPICFEATURE$, @DISEASE$, Sweet's disease, Weber-Christian's syndrome, phlebitis migrans and Bazex syndrome.	has_symptom
+1f14e7eef412a5aef2606470b27ca519bee037a9	[@DISEASE$, an unusual etiology of familial @PHENOTYPICFEATURE$ accidentally detected in adults].	has_symptom
+73642618389c9f30732077b5a54661ab796ed884	@PHENOTYPICFEATURE$ and prostaglandin overproduction in @DISEASE$.	has_symptom
+cf4c71eda6c0def74492808e8743036b06da164b	@PHENOTYPICFEATURE$ and renal potassium (K) wasting are hallmarks of the group of disorders called @DISEASE$.	has_symptom
+8cb6b3fdeac216576f40e95a95e805854d113ad3	We recommend determining serum creatine phosphokinase in all patients affected by @DISEASE$ and profound @PHENOTYPICFEATURE$.	has_symptom
+fbf2845889eb9336cb264f36eae7a460fe10eb16	The presence of metabolic alkalosis, @PHENOTYPICFEATURE$, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for @DISEASE$ was started.	has_symptom
+52e179e1369bb63b6b1d9a915cb65f35f527c136	The presence of metabolic alkalosis, @PHENOTYPICFEATURE$, hypochloremia, and high renin and aldosterone levels were suggestive of @DISEASE$ and a treatment regimen for Bartter syndrome was started.	has_symptom
+383ebf71554cea35a4fec401a6c6b3616283929c	Mutant mice developed a @DISEASE$ phenotype, characterized by renal salt loss, marked @PHENOTYPICFEATURE$, and metabolic alkalosis.	has_symptom
+8108a593d6cdef3f81b56f68f007c08a77041922	Gitelman's syndrome or familial @PHENOTYPICFEATURE$-hypomagnesemia and @DISEASE$ share some common features but their prognosis is quite different.	has_symptom
+98ae6abcd1c8c8722c088a7523da05e8761c7ce8	Gitelman's syndrome or familial @DISEASE$-@PHENOTYPICFEATURE$ and Bartter syndrome share some common features but their prognosis is quite different.	false
+e13c5d74e0b9a41e685401d88dfa6e0300a03a6a	Gitelman's syndrome or familial hypokalemia-@PHENOTYPICFEATURE$ and @DISEASE$ share some common features but their prognosis is quite different.	false
+d53005865dd3067315ec8de93513e8823966bfe5	Congenital @PHENOTYPICFEATURE$ with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from @DISEASE$.	has_symptom
+ad6d69d0fc00d11a1b67321e19e7942967ad65c5	Profound @PHENOTYPICFEATURE$ with rhabdomyolysis in @DISEASE$.	has_symptom
+dad567cafc0a44a195a6ccddcccf8f3c485bcac4	The patient also exhibited radiographical features of medullary sponge kidney and had severe nephrocalcinosis and @PHENOTYPICFEATURE$, indicating @DISEASE$.	has_symptom
+5061c2127e1318dface062bb320020c82c23d6bb	Other clinical manifestations of @DISEASE$ include cardiomyopathy, @PHENOTYPICFEATURE$, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	has_symptom
+d204683722c159db7da84236175fd09c2822f79a	Other clinical manifestations of SIFD include cardiomyopathy, @DISEASE$, @PHENOTYPICFEATURE$, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+c3ffa9d6a108342d1a27cefe99560b0d35d34dbf	Other clinical manifestations of @DISEASE$ include cardiomyopathy, seizures, @PHENOTYPICFEATURE$, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+8b05f2e871706a4628842745b59d73c5830a8c8e	Other clinical manifestations of SIFD include cardiomyopathy, seizures, @PHENOTYPICFEATURE$, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and @DISEASE$.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+be8bf4e4c242eeb929ea509408a65eacba07d0cc	Other clinical manifestations of SIFD include @DISEASE$, seizures, @PHENOTYPICFEATURE$, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever.	false
+613ea6365f22cc5bc34003e47c798068f5aeea51	@PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, and Down syndrome are risk factors for high mortality and prolonged morbidity after RSV infection.	has_symptom
+0e650e1f409a05435dca277a14ae163d8fb0355d	@DISEASE$ (HLH) is a severe hyperinflammatory condition characterized by @PHENOTYPICFEATURE$, cytopenias, hepatosplenomegaly and hemophagocytosis.	has_symptom
+88320d7362343d374232fba9b5a9d0e88364c0ab	Here we show that mutant mice lacking AEP develop @PHENOTYPICFEATURE$, cytopenia, hepatosplenomegaly, and hemophagocytosis, which are primary pathological manifestations of @DISEASE$/hemophagocytic lymphohistiocytosis (HLH).	has_symptom
+5c87c58f0637d4abc0022729a04d380713bf5681	Here we show that mutant mice lacking AEP develop @PHENOTYPICFEATURE$, cytopenia, hepatosplenomegaly, and hemophagocytosis, which are primary pathological manifestations of hemophagocytic syndrome/@DISEASE$ (HLH).	has_symptom
+3bb08ca5137cd38580df2e015446b03d3ab0f9f7	Familial @DISEASE$ (FHS) and infection-associated hemophagocytic syndrome (IAHS) usually present with @PHENOTYPICFEATURE$, pancytopenia, hepatosplenomegaly, signs of hepatic dysfunction, bleeding diathesis, and neurological manifestations.	has_symptom
+7cec43cddc06936e6f6383cbcf94e7339088883f	Familial hemophagocytic syndrome (FHS) and infection-associated @DISEASE$ (IAHS) usually present with @PHENOTYPICFEATURE$, pancytopenia, hepatosplenomegaly, signs of hepatic dysfunction, bleeding diathesis, and neurological manifestations.	has_symptom
+db407960e1f8a9c995ea4ae567edc4afce1172d9	The @DISEASE$ (HPS) is characterized by @PHENOTYPICFEATURE$, wasting, generalized lymphadenopathy, hepatosplenomegaly, and pancytopenia, often with associated coagulopathy.	has_symptom
+2d5144c8f3b7c14da0cb57ccd97c2db713244e8c	The hemophagocytic syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, wasting, generalized lymphadenopathy, hepatosplenomegaly, and pancytopenia, often with associated coagulopathy.	has_symptom
+286a7082dfa6fd8e5b4cd8e7fc397ab17b58c4fd	The haemophagocytic syndrome (@DISEASE$) is clinically characterized by @PHENOTYPICFEATURE$, pancytopenia and hepatosplenomegaly.	has_symptom
+86c4ead97712c1310f5185236bdcbc5c0bde6a35	Hemophagocytic syndrome (@DISEASE$) presents with @PHENOTYPICFEATURE$, pancytopenia, liver dysfunction and increase in hemophagocytic histiocytes in various organs.	has_symptom
+bdfaed161d507adcaf3fc50070e0ba90c79f0bab	@DISEASE$ (HPS) presents with @PHENOTYPICFEATURE$, pancytopenia, liver dysfunction and increase in hemophagocytic histiocytes in various organs.	has_symptom
+5b6d97e4735479c9f538933c0b5c9a7d3b4608d6	Hemophagocytic syndrome (@DISEASE$) is an unusual acute syndrome presenting with @PHENOTYPICFEATURE$, hepatosplenomegaly, and cytopenias.	has_symptom
+f834c6952c07af6fcf93105e029c1c2c5196110f	@DISEASE$ (HPS) is an unusual acute syndrome presenting with @PHENOTYPICFEATURE$, hepatosplenomegaly, and cytopenias.	has_symptom
+a58ac797133a45c99431a1b15dfb85ddf16afd8f	@DISEASE$ (HLH) is characterized by @PHENOTYPICFEATURE$, cytopenia, splenomegaly, and lymphohistiocytic proliferation with hemophagocytosis.	has_symptom
+4a3914e82e68ad536c9bc39297a17a3de6aa7ffe	@DISEASE$ should be suspected in immunodeficient patients with @PHENOTYPICFEATURE$, jaundice, and hepatosplenomegaly.	has_symptom
+e8133b700d9c6211acbde9298539f123e48b31cb	@DISEASE$ (HPS) is a rare clinicopathological disorder characterized by systemic proliferation of phagocytizing histiocytes associated with @PHENOTYPICFEATURE$, cytopenias, lymphadenopathy, hepatosplenomegaly, and disseminated intravascular coagulopathy.	has_symptom
+28ae48f0db2a663036ae5aee8cc7d3ac0560ee4f	Hemophagocytic syndrome (@DISEASE$) is a rare clinicopathological disorder characterized by systemic proliferation of phagocytizing histiocytes associated with @PHENOTYPICFEATURE$, cytopenias, lymphadenopathy, hepatosplenomegaly, and disseminated intravascular coagulopathy.	has_symptom
+4d33d4155d1a1df0bde2085638baeb6f0f7edb60	@DISEASE$ (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with @PHENOTYPICFEATURE$, developmental delay and intellectual disability, and eye involvement.	has_symptom
+2b712d1e3e0a68f62e36f23e5b18e956730cea69	Lowry-Wood syndrome (LWS) is a @PHENOTYPICFEATURE$ characterized by @DISEASE$ associated with microcephaly, developmental delay and intellectual disability, and eye involvement.	false
+3b0a2a4ea053c66af78eb5f80f0b88277dd5d81c	Lowry-Wood syndrome (LWS) is a @PHENOTYPICFEATURE$ characterized by multiple epiphyseal dysplasia associated with @DISEASE$, developmental delay and intellectual disability, and eye involvement.	false
+452455c5eeb3e94a26cf3ee024b3d7a8ecbbbef7	Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by @DISEASE$ associated with microcephaly, developmental delay and @PHENOTYPICFEATURE$, and eye involvement.	false
+3b3f0f0296fc88a503d5ef911829f806e26a5283	Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with @DISEASE$, developmental delay and @PHENOTYPICFEATURE$, and eye involvement.	false
+78e3526578d2e82c97cb464154621688bf514392	@DISEASE$ (LWS) is a @PHENOTYPICFEATURE$ characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement.	false
+38267d51835dd3a0a550aa85da89c2a186b00dc3	@DISEASE$ (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and @PHENOTYPICFEATURE$, and eye involvement.	false
+06542f71fb5f51197dee482307701766828b064b	@DISEASE$ (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), @PHENOTYPICFEATURE$, and congenital nystagmus.	has_symptom
+83559032ea7b1fa1f547f6f1a40a637e4836746a	Syndrome of short stature, @PHENOTYPICFEATURE$, mental retardation, and multiple epiphyseal dysplasia--@DISEASE$.	has_symptom
+a5aec2b0ee799112faf0a6ac22b1a5686f5d4efe	Syndrome of short stature, microcephaly, @PHENOTYPICFEATURE$, and multiple epiphyseal dysplasia--@DISEASE$.	false
+391a10f9c24f449269cbb70da4e03fdd310136c7	Syndrome of @PHENOTYPICFEATURE$, microcephaly, mental retardation, and multiple epiphyseal dysplasia--@DISEASE$.	false
+00ee29dbafb2fbaa937aee31c204d205e2c97e69	Syndrome of short stature, @DISEASE$, @PHENOTYPICFEATURE$, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.	false
+85aa925d48ff2fc900ea8229ce7d185ce4120a8e	Syndrome of @PHENOTYPICFEATURE$, microcephaly, mental retardation, and @DISEASE$--Lowry-Wood syndrome.	false
+4f826eb39c07ffdede17b2adfaea26f4e77ef6dc	Syndrome of short stature, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$--Lowry-Wood syndrome.	false
+a9c890c188a8f7fe8e8aa8b1fd4c6926d408a9e5	Syndrome of @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.	false
+d1de0a6bfbd134cb8be15dbd578de2bc843f3eba	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: @PHENOTYPICFEATURE$, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	has_symptom
+10b1962e6a31bb489d9665d41c4f0ed9ba86cf60	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, tapetoretinal degeneration, and mental retardation.	false
+284b4121e9543a58b6c44733614de4dec4ad92fe	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: microcephaly, @PHENOTYPICFEATURE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	false
+a057f9da4e8c910089958833f3fdefdcf10e4388	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: @DISEASE$, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	false
+5b58c9560ffabe9518f6b68032eea066d9013a68	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	false
+14644e9239168cafd71999211277e2003891241f	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, short stature, @DISEASE$, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	false
+d3f364435757fb80aa7d33d86cf723ad2b0ca89a	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: @DISEASE$, @PHENOTYPICFEATURE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	false
+52141c0eb36abcbffebf3cf44d378e47422ee6e2	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, @PHENOTYPICFEATURE$, short stature, and mental retardation).	has_symptom
+92440c9d6fe5c7fad828c0eb881b924712bcee07	This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation).	false
+33f81b626b54b9cce5f60691ba98bc5fbdfdb331	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, microcephaly, short stature, and @PHENOTYPICFEATURE$).	false
+f3de5d346e332cefda7b6b14c2450620fdcfabdc	This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, @DISEASE$, short stature, and @PHENOTYPICFEATURE$).	false
+e1aa37fe68a6f4b8e2c80d52941f09034a8cb20e	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, microcephaly, @PHENOTYPICFEATURE$, and mental retardation).	false
+11b309369a7fe6c6e4b0711249c33cb4a43e91a9	mutation and a milder phenotype, characterized by a learning disorder without intellectual disability, nonspecific dysmorphisms, and an electroencephalogram picture closely resembling that of @DISEASE$ with brief @PHENOTYPICFEATURE$ that have appeared during the follow-up, responsive to valproic acid.	has_symptom
+741c9c1818e0d77b52729273d74ff12386017d1d	We present a case series of three boys with childhood epilepsy with myoclonic-atonic seizures (@DISEASE$) who achieved complete remission during childhood only to develop @PHENOTYPICFEATURE$ during early adolescence.	has_symptom
+200c973ce7fbf22dd4799d2ce860a3c6c8736122	We present a case series of three boys with childhood @DISEASE$ (EMAS) who achieved complete remission during childhood only to develop @PHENOTYPICFEATURE$ during early adolescence.	has_symptom
+8a0d5c78f690f1a76b7cc8915b7fb4d53f7df394	An 11-year-old girl presented with a refractory @DISEASE$, hypoferremia, normoblastic hyperplastic bone marrow, hypergammaglobulinemia, and @PHENOTYPICFEATURE$.	has_symptom
+df4d4010c0f92224c3ab78b213ac66342473c609	Males affected with sideroblastic anemia had @PHENOTYPICFEATURE$, @DISEASE$, elevated serum iron, decreased unsaturated iron-binding capacity, increased (59)Fe clearance, low (59)Fe incorporation into erythrocytes, normal erythrocyte survival ((51)Cr), normal hemoglobin electrophoretic pattern, erythroblastic hyperplasia of marrow with increased iron, and marked increase in marrow sideroblasts, particularly ringed sideroblasts.	has_symptom
+885458b83806b3b9502a2dc5c8d803c90eeb3cfa	Mild @DISEASE$ developed in all rats treated with Cd, but @PHENOTYPICFEATURE$ in the OX rats was more prominent than that in the non-OX rats.	has_symptom
+5eba3304864cafd4f6e2c6f1003613f68e0db570	On the other hand, with the exception of 1 patient with thrombocytopenia and 1 patient with @PHENOTYPICFEATURE$, all of the clinical manifestations, including thrombocytopenia, central nervous system (CNS) lupus, thrombophlebitis, lung infarction, and recurrent abortions in the SLE patients with @DISEASE$, improved after plasmapheresis.	has_symptom
+9437fcb88faa9889528650c4773cbf2309c5b65f	Antiphospholipid syndrome (@DISEASE$) may occur in isolation or in association with systemic lupus erythematosus (SLE), with the potential to cause @PHENOTYPICFEATURE$ via several distinct pathologies.	has_symptom
+465d19725394b7493d3564391f3e75c9a875a0f3	The kidney may be involved in the @DISEASE$ syndrome with acute nephritis and @PHENOTYPICFEATURE$.	has_symptom
+24df8e4acd5aa65fa30ddc51d3d2f523f37ad573	This is the first report of the successful use of transcatheter aortic valve replacement (TAVR) for severe critical aortic stenosis in a patient with active SLE, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+21db7fe5b43232bed98ab6b43a863a953ebe662b	Nevertheless, patients with SAD-@DISEASE$ and @PHENOTYPICFEATURE$ only represent 2% to 5% in hemodialysis or transplantation.	has_symptom
+faf116210d4b5a3f871b75ee8ba008790de7b014	This case report presents a patient who developed a widespread TMA with @PHENOTYPICFEATURE$, gastric mucosa ulceration, urinary bladder ulcerations and a finger necrosis as part of the @DISEASE$.	has_symptom
+210895fff4ef7abb8b93fde2af65b94ff08509ba	A patient with @DISEASE$ associated with Hirschsprung megacolon and Marcus Gunn @PHENOTYPICFEATURE$ is presented.	has_symptom
+6256b7c6b0543e0b10df2bdd9b4923fe63e03473	@DISEASE$ (PWS) is characterized by psychomotor and growth retardation, infantile hypotonia, characteristic facies, small hands and feet, @PHENOTYPICFEATURE$, and early onset of childhood hyperphagia with consequent obesity.	has_symptom
+f8dd9db75e3f4fcd860cc27630dd759c8ef389ec	Prader-Willi syndrome (PWS) is characterized by psychomotor and @PHENOTYPICFEATURE$, infantile hypotonia, characteristic facies, small hands and feet, @DISEASE$, and early onset of childhood hyperphagia with consequent obesity.	false
+d18aa119c502b46e18a7e66f475cd1ef63dfb1c3	Prader-Willi syndrome (PWS) is characterized by psychomotor and growth retardation, infantile hypotonia, characteristic facies, small hands and feet, @DISEASE$, and early onset of childhood hyperphagia with consequent @PHENOTYPICFEATURE$.	false
+851d227e76c9ddaf41c040c98c96319ec9f1e4ed	@DISEASE$ (PWS) is characterized by psychomotor and growth retardation, infantile hypotonia, characteristic facies, small hands and feet, dental abnormalities, and early onset of childhood hyperphagia with consequent @PHENOTYPICFEATURE$.	false
+16bd3b91825c4199db19bd47dc1110a5c0ee8386	@DISEASE$ (PWS) is characterized by psychomotor and @PHENOTYPICFEATURE$, infantile hypotonia, characteristic facies, small hands and feet, dental abnormalities, and early onset of childhood hyperphagia with consequent obesity.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+1b136eb402361524592b66f239b88b032353dca5	Compared to the @DISEASE$ the craniofacial appearance of this autosomal recessively inherited malformation syndrome is characterised by antimongoloid position of the eyes, @PHENOTYPICFEATURE$ with prominent upper incisors and malocclusion, and high-arched palate.	has_symptom
+2c53d2d7385f8c78e92d524b8afa34f42d814ff6	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$ among middle-aged and elderly persons, and typical cases are clinically fairly distinct from more common forms of neurodegenerative dementias.	has_symptom
+8a8454362aec305bae50b65d74dc095644171055	[@DISEASE$ and isolated @PHENOTYPICFEATURE$.	has_symptom
+a36f30a18bc288054804290c2b044da5eb97fde6	The predominant clinical syndrome is a progressive cortical @PHENOTYPICFEATURE$ with pyramidal signs, myoclonus and cerebellar abnormalities that closely resemble @DISEASE$.	has_symptom
+53317fb4078ccacb3bdc440a0e1c5ff2d9f9a9e5	The predominant clinical syndrome is a progressive cortical dementia with pyramidal signs, myoclonus and @PHENOTYPICFEATURE$ that closely resemble @DISEASE$.	false
+048ce3855e88be7e71cc4e3b7646328d0b805c8b	The predominant clinical syndrome is a progressive cortical @DISEASE$ with pyramidal signs, myoclonus and @PHENOTYPICFEATURE$ that closely resemble sporadic Creutzfeldt-Jakob disease.	false
+b15057539f45716fdb055653dc5bbbf84bf6da03	?m) than those with @DISEASE$ (CME) and diffuse @PHENOTYPICFEATURE$.	has_symptom
+f89edafade834a8bfd60c1c5fe796d937b693fa9	Funduscopy revealed significant @DISEASE$ OS, as well as optic disk @PHENOTYPICFEATURE$ and chorioretinal infiltrates without signs of vitritis OU.	has_symptom
+0d145ed965766a08035c7faa45984ba172f1b034	Vitrectomy for diabetic @DISEASE$ is an effective procedure for reducing the @PHENOTYPICFEATURE$ and improving visual acuity.	has_symptom
+ac52a9245a64433bcad786d05ea36584505de6f3	Complete resolution of the @DISEASE$ was achieved in each eye, but recurrent @PHENOTYPICFEATURE$ necessitated continued intermittent injections.	has_symptom
+c9c442347ad9db29ac6a198f2a878de88e655be0	Somatostatin-analogues may reduce cystoid @PHENOTYPICFEATURE$ in @DISEASE$ and may thus prevent disease-related visual loss.	has_symptom
+22ce99c5c8fc28b8853ff5b5c14afde97bee5ddb	Somatostatin-analogues may reduce cystoid edema in @DISEASE$ and may thus prevent disease-related @PHENOTYPICFEATURE$.	false
+ad77c9f0721e957aa27287ab71b8cc8f31f7f376	Somatostatin-analogues may reduce cystoid @DISEASE$ in DCMD and may thus prevent disease-related @PHENOTYPICFEATURE$.	false
+8617c63669ee88d48ef4fbf1bec5edfd9b172992	@DISEASE$ was the most common type of @PHENOTYPICFEATURE$ (49.1%) and showed the worse VA.	has_symptom
+db307c41bbeb534fd02fce6498c1457cc95325e8	The primary cause of decreased vision postoperatively was @DISEASE$ with frequently associated optic disc @PHENOTYPICFEATURE$.	has_symptom
+f7c73a7426edcdf781dde9875cff9a125b837c33	One of 21 maculas with angiographic evidence of @PHENOTYPICFEATURE$ developed clinical @DISEASE$.	has_symptom
+378ea2a73f4c3feba2479bfbc459240d21754bfc	Funduscopic examination revealed papillary @PHENOTYPICFEATURE$ and @DISEASE$, confirmed by fluorescein angiography.	has_symptom
+3d659fdcfdd734daf785fd891d36c60d99639244	@DISEASE$(CME) was found in 30% of 11 Japanese patients, and optic disc @PHENOTYPICFEATURE$ was seen in 50%.	has_symptom
+8632eb76dbb1f079b301a6f912f14434b742cbce	@DISEASE$ is a dominantly inherited, neurodegenerative disease characterized by @PHENOTYPICFEATURE$ disturbances and dementia, usually with adult onset.	has_symptom
+d45d96b050be4826d0dc281353d627fcce31f97a	@DISEASE$ is a progressive, degenerative disease characterized by abnormal body movements called @PHENOTYPICFEATURE$, and a reduction of various mental abilities.	has_symptom
+c34ec6db0360dc9cdf004bd9d75508c3b82f6de6	There is currently no disease-modifying treatment for @DISEASE$ (HD), which is characterized by @PHENOTYPICFEATURE$ motor impairment and cognitive decline.	has_symptom
+3271fbdb631608d0bc56f32f086b6a49299b3459	@DISEASE$ (HD) is an inherited genetic disorder, characterized by cognitive dysfunction and abnormal body movements called @PHENOTYPICFEATURE$.	has_symptom
+be499a93af273495d121b4029b04f3dfdc8b78fc	In this report, we describe an unusual patient with a @PHENOTYPICFEATURE$ disorder, misdiagnosed as @DISEASE$, who later developed dense vitreitis leading to the identification of Treponema pallidum as the underlying pathogen of both abnormalities.	has_symptom
+dc871cdd39cb02b2680c3b7cda77b0158cb9cfd2	Other causes of chorea, for example, @DISEASE$, Sydenham @PHENOTYPICFEATURE$, Wilson's disease, malignancy, systemic lupus erythematosus, haemorrhage/infarction, thyroid dysfunction, drug-induced chorea and antiphospholipid syndrome, were excluded or deemed less likely given her rapid response to achieving near euglycaemia.	has_symptom
+7435eebd248e645bad576061426ad3a528676336	To provide a systematic description of component movements of upper facial @PHENOTYPICFEATURE$ in @DISEASE$, consecutive videos of 25 active patients with confirmed diagnosis were scored on eye opening, eye closing, and procerus/corrugator contractions.	has_symptom
+df07d54811104a63365c0c33bde0b307bcefa01b	The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a @DISEASE$-like phenotype with a @PHENOTYPICFEATURE$ disorder, cognitive alterations, and psychiatric symptoms.	has_symptom
+3271fbdb631608d0bc56f32f086b6a49299b3459	@DISEASE$ (HD) is an inherited genetic disorder, characterized by cognitive dysfunction and abnormal body movements called @PHENOTYPICFEATURE$.	has_symptom
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+6c75f05e9375228293bbe58025b2048b77535cb2	Aqueous shunt surgery appears to be an effective method for IOP lowering in some eyes with @DISEASE$-related glaucoma when medical treatment or conventional filtration surgeries fail, but additional @PHENOTYPICFEATURE$ procedures and/or aqueous shunt revisions and tube repositionings are not uncommon.	has_symptom
+01f66335ce1a60fd31af8e81f8ca64868603e6cf	Favorable outcomes can be achieved in patients with @DISEASE$ but may require multiple corneal and @PHENOTYPICFEATURE$ procedures.	has_symptom
+dc0a6842df8381f4ed25d6eb98182804ce98c9e9	The diagnosis of @DISEASE$ should be considered in younger patients with unilateral @PHENOTYPICFEATURE$ and confirmed by specular microscopy.	has_symptom
+8e3326807992bd83a463d2366b33d45643216546	The @DISEASE$ is a rare cause of unilateral @PHENOTYPICFEATURE$ that is almost never seen in children.	has_symptom
+a57d3da339444fbd128c502225107dbd596e7c17	@PHENOTYPICFEATURE$ occurred in 33 (50%) of the patients with @DISEASE$ and was most common in the variants in which abnormal cells involve the entire posterior corneal surface (disseminated ICE and total ICE).	has_symptom
+541798d7118d38ac8df4e17952bdccd31e2026cc	A 42-year-old woman with a @DISEASE$ associating xerostomia and @PHENOTYPICFEATURE$ developed proximal motor weakness in all four limbs due to a polymyositis.	has_symptom
+aa70c03e7c644f28f376fec9c0a22b09d0bf40c3	@DISEASE$/proximal myotonic myopathy (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, @PHENOTYPICFEATURE$ and musculoskeletal pain.	has_symptom
+b4805754f2612284cfedf25a81189a34d449b3ec	Myotonic dystrophy type 2/@DISEASE$ (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, @PHENOTYPICFEATURE$ and musculoskeletal pain.	has_symptom
+0e3706e9f8155e14674500d92819e6cc4cfc5f7f	Myotonic dystrophy type 2/proximal myotonic myopathy (DM 2/PROMM) is an autosomal dominant @DISEASE$ characterized by proximal muscle weakness, myotonia and musculoskeletal @PHENOTYPICFEATURE$.	false
+07eb065f2316a2f22e29564a5ff20bd2c9a6a8a4	Myotonic dystrophy type 2/@DISEASE$ (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, myotonia and musculoskeletal @PHENOTYPICFEATURE$.	false
+a63052cca18bfbfbcb8e05b59cd2fbed1799e7d4	@DISEASE$/proximal myotonic myopathy (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, myotonia and musculoskeletal @PHENOTYPICFEATURE$.	false
+6ea37e857e7ca91feb4ec5945ee1a316f7fa59e7	Myotonic dystrophy type 2/proximal myotonic myopathy (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, @DISEASE$ and musculoskeletal @PHENOTYPICFEATURE$.	false
+51948fdfaccf1f6b548debf4e1bb1043ca44c758	@DISEASE$ (DM2) is a progressive multisystem disease with muscle weakness and @PHENOTYPICFEATURE$ as main characteristics.	has_symptom
+cb53f771eb418ad8d7b66e14f9afda8591e4674d	Myotonic dystrophy type 2 (DM2) is a progressive multisystem disease with @PHENOTYPICFEATURE$ and @DISEASE$ as main characteristics.	false
+f25ddb238678a4303917f52481e24b5f9e6aa532	@DISEASE$ (DM2) is a progressive multisystem disease with @PHENOTYPICFEATURE$ and myotonia as main characteristics.	false
+75962a56490cb12e3665cfde8a0e0259286332e3	Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and @DISEASE$ (n = 1); and group III (limb involvement with central nervous system dysfunction or @PHENOTYPICFEATURE$; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1).	has_symptom
+655bb17bcecb789a7d92ddc6222162e497a02767	Those with partial 3q deletion have a true multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome with an appearance suggestive of the @DISEASE$.	has_symptom
+5273c55a4f2b08ceb5e9c5d7253b16359edeae4f	@DISEASE$ patients are children showing severe hypotonia, arrested psychomotor development, @PHENOTYPICFEATURE$ and global hypomyelination.	has_symptom
+ad4bbcb26a7294502338e92e0a3cae822bbfaca8	The literature on @PHENOTYPICFEATURE$ in @DISEASE$ is sparse and the involvement of peripheral nerves in Whipples disease has not been documented convincingly so far.	has_symptom
+bb64c4d05c8b198e83d12677d18541b163ba1a15	The literature on @PHENOTYPICFEATURE$ in Whipples disease is sparse and the involvement of peripheral nerves in @DISEASE$ has not been documented convincingly so far.	has_symptom
+06e33ad8b2970cf05064a910f68d78dabc611362	@PHENOTYPICFEATURE$ in @DISEASE$: a case report.	has_symptom
+c46d8cafbf948b6fb9e93864ffe923faa97faf48	@DISEASE$ lymphangiomas are rare intra-abdominal @PHENOTYPICFEATURE$.	has_symptom
+c4d9e426c3b80e8cea4abea48cef04ceb40fe086	@DISEASE$ inflammatory myofibroblastic @PHENOTYPICFEATURE$ mimicking peritoneal carcinomatosis.	has_symptom
+737a31547bb2b21b627b0c04399e61ad07f8c59b	Based on a diagnosis of appendicitis with @DISEASE$ inflammation or an omental @PHENOTYPICFEATURE$, laparotomy performed.	has_symptom
+fe9977cc17010cd023722cd67e3605c796e596c0	Based on a diagnosis of appendicitis with omental inflammation or an @DISEASE$ @PHENOTYPICFEATURE$, laparotomy performed.	has_symptom
+c90d9d0bdf6d05ae5090478e9b5e499eaebfe95c	A complete macroscopic resection of the @DISEASE$ @PHENOTYPICFEATURE$ was performed.	has_symptom
+320283ac1a818dcc88e9887644842d1e393e5904	@DISEASE$ cysts are rare abdominal @PHENOTYPICFEATURE$.	has_symptom
+7d47b3d8075ff36e7e0cb2ef23d9000cd243912d	Colorectal and @DISEASE$ @PHENOTYPICFEATURE$ were the largest.	has_symptom
+9ca7704e40daf1d86e827622a93d078094043762	@DISEASE$ lipomas are extremely rare @PHENOTYPICFEATURE$ of childhood.	has_symptom
+441ca644698b59126609e70132f6a24170aaae8b	However, laparotomy demonstrated it was an @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+928905409897e65cd8e90c65b44bd2d92eac1d6b	Primary @DISEASE$ leiomyosarcoma is a rare @PHENOTYPICFEATURE$.	has_symptom
+86f39239d867529ec73aec037558fd19021c8ec0	Multiple @DISEASE$ @PHENOTYPICFEATURE$ deposits were also noted.	has_symptom
+e817864f2e618e0cb3dda72a677a8748ed03142d	Clinical manifestations of @DISEASE$ are progressive mental and motor deterioration, seizures, and @PHENOTYPICFEATURE$.	has_symptom
+83709a88ef749d1af9b8022672a2e0996555625e	Clinical manifestations of NCL are progressive mental and motor deterioration, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e5e61dd3e90f159d661b44dcfd6c7d6232d20b47	Clinical manifestations of @DISEASE$ are progressive mental and motor deterioration, @PHENOTYPICFEATURE$, and visual loss.	false
+9d2b6e1618a42381dc01104cf2cd9bd6b0f68c78	@DISEASE$ causing hereditary late-onset @PHENOTYPICFEATURE$ with only minimal white matter changes: A report of two sibs.	has_symptom
+8254a546ee6ae08f3d2ee50a7ca9907b4efbbe37	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and spasticity, and a more slowly progressive course.	has_symptom
+e1e68c90eafe56bfeb3a3d2c236a5b14f19a3c82	Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @DISEASE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+93c36a228e14d4a45eb767e7765394203a820cfd	Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @DISEASE$, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	false
+9eb9c3c867cdadee38ff6257dc3fd5cf0cdd4a18	Infants with Alexander disease develop a leukoencephalopathy with @PHENOTYPICFEATURE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @DISEASE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+645108d752b8ac99b554d8f1c2d7daf7877e50c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+755cd2ad6c7226a99c02f22a4aaf47f08bbe1768	Infants with @DISEASE$ develop a leukoencephalopathy with @PHENOTYPICFEATURE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+4cb1b3a8dcd9e79c60f7b6098cadecdb4d7d46c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	false
+0dde7325bb1439095cb17b2b0601cafb629b4aa0	Late onset @DISEASE$ presenting as @PHENOTYPICFEATURE$ associated with a novel mutation in the GFAP gene.	has_symptom
+3fe350ac13c8f05334a68df17aee8976a7ea1ba8	Five cases (7.5%) were diagnosed as Friedrich @PHENOTYPICFEATURE$, 4 cases (4%) as lipidosis, 3 case as Gaucher's disease (4.5%), and two cases (3%) each as @DISEASE$, and Hellervorden-spatz disease; and one case each as multiple sclerosis and ataxia telangiectasia.	has_symptom
+385bb5d0ff948c0697b37d76f6623ebd577b8e91	@PHENOTYPICFEATURE$ and autonomic dysfunction as presenting symptoms in late-onset @DISEASE$.	has_symptom
+b4b172059ff66368442e644efefccc9275b2cdbf	When macrocephaly is seen in conjunction with abnormal white matter on neuroimaging, specific genetic leukoencephalopathies should be considered, including @DISEASE$, Canavan's disease, childhood @PHENOTYPICFEATURE$ with central hypomyelination/ vanishing white matter disease (CACH/VWMD), glutaric aciduria type I, L2-hydroxyglutaric aciduria, and megalencephalic leukoencephalopathy with subcortical cysts (MLC).	has_symptom
+2fd1932e9abd8728430d3e30be5bd71fe550a510	Type II @DISEASE$ patients experience @PHENOTYPICFEATURE$, palatal myoclonus, dysphagia, and dysphonia.	has_symptom
+ef31fde44932775099794e4dbb199c573d378da3	In the familial form, where hypertrophic degeneration of the inferior olive may not occur (or not reported), the main reported etiologies are @DISEASE$, polymerase gamma mutation, and spinocerebellar @PHENOTYPICFEATURE$ type 20.	has_symptom
+680c64e4fb8919ffa21798f8406a107ebabfa95d	Our patient, now aged 5 years, has remained in excellent health with normal growth and development on fasting avoidance, a modified vegan diet, and sodium phenylbutyrate.These five cases demonstrate that generalized liver dysfunction/failure is a potential serious complication of @DISEASE$, although not a common one, and suggests that an ALT and PT should be obtained in OTC patients during episodes of @PHENOTYPICFEATURE$.	has_symptom
+2a86a6bdbc4802ed4085eb8ec920c2867a88d034	Our patient, now aged 5 years, has remained in excellent health with normal growth and development on fasting avoidance, a modified vegan diet, and sodium phenylbutyrate.These five cases demonstrate that generalized liver dysfunction/failure is a potential serious complication of @DISEASE$, although not a common one, and suggests that an ALT and PT should be obtained in OTC patients during @PHENOTYPICFEATURE$ of hyperammonemia.	false
+b16bf0d244a1149d70bcfc7377458158270efc6d	Our patient, now aged 5 years, has remained in excellent health with normal growth and development on fasting avoidance, a modified vegan diet, and sodium phenylbutyrate.These five cases demonstrate that generalized liver dysfunction/failure is a potential serious complication of OTC deficiency, although not a common one, and suggests that an ALT and PT should be obtained in OTC patients during @PHENOTYPICFEATURE$ of @DISEASE$.	false
+1296a332e5090ffb2b4e4ea750af3ec03637f757	Our patient, now aged 5 years, has remained in excellent health with normal growth and development on fasting avoidance, a modified vegan diet, and sodium phenylbutyrate.These five cases demonstrate that generalized liver dysfunction/failure is a potential serious complication of OTC deficiency, although not a common one, and suggests that an @DISEASE$ and PT should be obtained in OTC patients during @PHENOTYPICFEATURE$ of hyperammonemia.	false
+5d8d1d43b2baa8ae9ade20b604ecb2ecf6fef44e	Liver failure with coagulopathy, @PHENOTYPICFEATURE$ and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with @DISEASE$ and Wilson disease.	has_symptom
+66fe01507104af392c0a63f8cee46f1c03e81468	We report on a 3-month-old boy with @DISEASE$ who presented at the age of 3 months with @PHENOTYPICFEATURE$, muscle weakness, mild jaundice and constipation.	has_symptom
+1723fc7c6bfabe5f6ac6a166f9fdb61c9b127a32	We encountered a male infant with infantile @DISEASE$ presenting with megalencephaly and hydrocephalus as a neonate and subtle @PHENOTYPICFEATURE$ at 3 months of age.	has_symptom
+3d7a2e50ef4d3935120c6505b408130d701ca13f	We encountered a male infant with infantile @DISEASE$ presenting with megalencephaly and @PHENOTYPICFEATURE$ as a neonate and subtle seizures at 3 months of age.	false
+c3d56589382ea6edb737cd9a26fd11c272ee03ef	We encountered a male infant with infantile Alexander disease presenting with megalencephaly and @PHENOTYPICFEATURE$ as a neonate and subtle @DISEASE$ at 3 months of age.	false
+645108d752b8ac99b554d8f1c2d7daf7877e50c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	has_symptom
+621ac08b08e419663a699da22d1100fc610452ce	Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, @DISEASE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+8254a546ee6ae08f3d2ee50a7ca9907b4efbbe37	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+d3a386cfcd474ad11125b559090cc3cbb902d4c2	Infants with Alexander disease develop a leukoencephalopathy with @PHENOTYPICFEATURE$, @DISEASE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+5d11ce2f76c9b99bd116f11bc5331f7eca7ee1fb	Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, @DISEASE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	false
+755cd2ad6c7226a99c02f22a4aaf47f08bbe1768	Infants with @DISEASE$ develop a leukoencephalopathy with @PHENOTYPICFEATURE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+4cb1b3a8dcd9e79c60f7b6098cadecdb4d7d46c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	false
+6eb4dd59d90302d6001469658e7c15ae092dc60b	@DISEASE$ is a leukoencephalopathy that usually presents during infancy with developmental delay, macrocephaly and @PHENOTYPICFEATURE$.	has_symptom
+256cfaf5290f2bc21ce00d30ae210830ebbdaaba	@DISEASE$ is a leukoencephalopathy that usually presents during infancy with developmental delay, @PHENOTYPICFEATURE$ and seizures.	false
+b33397122d6bf6bc0c4591980e86ea700fb9377e	Alexander disease is a leukoencephalopathy that usually presents during infancy with developmental delay, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+19fef42fab6245486e8bfa59ebc08bcf61d71ff7	Infantile @DISEASE$ (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with macrocephaly, @PHENOTYPICFEATURE$, and retarded psychomotor development.	has_symptom
+e99fc8f0e3e60df0cddc1b8442a7a218a4223565	Infantile @DISEASE$ (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with @PHENOTYPICFEATURE$, seizures, and retarded psychomotor development.	false
+9f2475e8670a11dfff89c7ec391b754969aa5b4c	Infantile Alexander disease (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with @PHENOTYPICFEATURE$, @DISEASE$, and retarded psychomotor development.	false
+bb17c41f5fafe395988ac4720d4fa224ca1ed745	Infantile Alexander disease (AD) is a @DISEASE$ characterized by its early onset within 2 years of life and clinically presents with @PHENOTYPICFEATURE$, seizures, and retarded psychomotor development.	false
+70eb65e70c2b1467e2e3392b99bd73d3e1d0e15a	Effects of traumatic brain injury on reactive astrogliosis and @PHENOTYPICFEATURE$ in mouse models of @DISEASE$.	has_symptom
+db31145904f48dfbaf76e179ce83e37afc91f998	An intact AP-1 site was found critical for a GFAP promoter response to the three different injury models used: physical trauma produced by cryoinjury, @PHENOTYPICFEATURE$ produced by kainic acid, and chronic gliosis produced in an @DISEASE$ model.	has_symptom
+da240691ccee408112d9e1c95b832736b53ec856	In this transgenic animal model, mice did not show megalencephaly, leukodystrophy, or @PHENOTYPICFEATURE$ characteristic of @DISEASE$ with R239H mutation.	has_symptom
+a1e33a22a48a471ed298b9a2bdc2984d88ed242d	@DISEASE$ is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, @PHENOTYPICFEATURE$, spasticity, and psychomotor deterioration.	has_symptom
+67fed248521bcb991abb07ed2d9ef00d99256819	@DISEASE$ is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, seizures, @PHENOTYPICFEATURE$, and psychomotor deterioration.	false
+ea18fb9369c3ba289c0be37c3865059831a0ca6d	Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-@DISEASE$ abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, seizures, @PHENOTYPICFEATURE$, and psychomotor deterioration.	false
+821640b45683b03c8a109cefdfb3f811bd8be8b6	Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, @DISEASE$, @PHENOTYPICFEATURE$, and psychomotor deterioration.	false
+6ae17393add1a3500b8a62eb8194928765587a34	Cerebral embolism may be a notable complication in patients with @DISEASE$ presenting with late-life expression of skeletal @PHENOTYPICFEATURE$ and antecedent cardiac involvement.	has_symptom
+9145b66d15d4a132d3503bd34b22bc9b5526f512	Factors other than ADT-associated bone loss contributing to this fracture risk include both decreased @DISEASE$ before ADT and an increased tendency to fall associated with @PHENOTYPICFEATURE$, impaired balance, and postural hypotension.	has_symptom
+0a017eb95fa25bcadf5528f49d0587f42c5274f8	@DISEASE$ is a rare autosomal recessive multi-system disorder, with clinical features of @PHENOTYPICFEATURE$, spondylo-epiphyseal dysplasia, nephrotic syndrome and immunodeficiency beginning in childhood.	has_symptom
+5ee06420b5870984002c56334533720ee8785d66	The clinical phenotype of @DISEASE$ (SID) is characterized by @PHENOTYPICFEATURE$, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood.	has_symptom
+81979882dc1b1175dd76b95d5dc9840cbd7c66e2	The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood.	false
+dba5658ea34aca5afa38382e2f3cdf5db2130900	The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, @PHENOTYPICFEATURE$, recurrent infections, cerebral infarcts, and skin @DISEASE$ beginning in childhood.	false
+b3604c3ea175bf9dbc41554f4efef682a1b35ec2	The clinical phenotype of @DISEASE$ (SID) is characterized by growth retardation, @PHENOTYPICFEATURE$, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood.	false
+f43005ae10c2cb0020f39dc361c7e346cb98cd55	Mutations in SMARCAL1 cause @DISEASE$ (SIOD), an autosomal recessive multisystem developmental disease characterized by @PHENOTYPICFEATURE$, T-cell deficiency, bone marrow failure, anemia and renal failure.	has_symptom
+44f0ead1ef79b4002a07cefde1ab44bd9bda4a5c	Mutations in SMARCAL1 cause Schimke Immuno-Osseous Dysplasia (SIOD), an autosomal recessive multisystem developmental disease characterized by growth retardation, T-cell deficiency, bone marrow failure, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5fe7f00a19a19a68227063c8718ad982154425f7	Mutations in SMARCAL1 cause Schimke Immuno-Osseous Dysplasia (SIOD), an autosomal recessive multisystem developmental disease characterized by @DISEASE$, T-cell deficiency, bone marrow failure, anemia and @PHENOTYPICFEATURE$.	false
+b6c0bdd2905d90c9f1a43043d7ad8297bad4ef8f	Mutations in SMARCAL1 cause @DISEASE$ (SIOD), an autosomal recessive multisystem developmental disease characterized by growth retardation, T-cell deficiency, bone marrow failure, anemia and @PHENOTYPICFEATURE$.	false
+1903ae5be15ab20568969e0ba677854b95c92956	@DISEASE$ (SIOD) is an autosomal recessive disorder caused by loss-of-function mutations in SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), with clinical features of @PHENOTYPICFEATURE$, spondylo-epiphyseal dysplasia, nephrotic syndrome, and immunodeficiency.	has_symptom
+4cb1b3a8dcd9e79c60f7b6098cadecdb4d7d46c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	has_symptom
+a9d240fbb8644db31321aa3ae4b83404c6e0aa12	Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @DISEASE$, and a more slowly progressive course.	false
+8254a546ee6ae08f3d2ee50a7ca9907b4efbbe37	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+4b456133dd5ddc4b9a0217ce255bc089e929f288	Infants with Alexander disease develop a leukoencephalopathy with @PHENOTYPICFEATURE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @DISEASE$, and a more slowly progressive course.	false
+645108d752b8ac99b554d8f1c2d7daf7877e50c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+a4b44bf3873b3cc777c865d7883c4bf77ba92aa5	Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and @DISEASE$, and a more slowly progressive course.	false
+755cd2ad6c7226a99c02f22a4aaf47f08bbe1768	Infants with @DISEASE$ develop a leukoencephalopathy with @PHENOTYPICFEATURE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+7e88e189667dce9cf5ffb187cc647b1e6598ec9d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff73eac55bc6ccd09244ea878ff63117618b4d27	Although adult @DISEASE$ shows a wide clinical variability, a more frequent pattern can be identified characterized by bulbar or pseudo-bulbar signs, gait ataxia, and @PHENOTYPICFEATURE$, and including on MRI medulla and cervical cord atrophy.	has_symptom
+81373561cff0e38e53bc0feaf898969dfe458170	Although adult Alexander disease shows a wide clinical variability, a more frequent pattern can be identified characterized by bulbar or pseudo-bulbar signs, @PHENOTYPICFEATURE$, and @DISEASE$, and including on MRI medulla and cervical cord atrophy.	false
+09127752401c57b3f80757e48c6e8e7d6c023678	Although adult @DISEASE$ shows a wide clinical variability, a more frequent pattern can be identified characterized by bulbar or pseudo-bulbar signs, @PHENOTYPICFEATURE$, and spasticity, and including on MRI medulla and cervical cord atrophy.	false
+67fed248521bcb991abb07ed2d9ef00d99256819	@DISEASE$ is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, seizures, @PHENOTYPICFEATURE$, and psychomotor deterioration.	has_symptom
+a1e33a22a48a471ed298b9a2bdc2984d88ed242d	@DISEASE$ is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, @PHENOTYPICFEATURE$, spasticity, and psychomotor deterioration.	false
+03f7dec3e842d1e09e1abd911206eee294298c6f	Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-@DISEASE$ abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, @PHENOTYPICFEATURE$, spasticity, and psychomotor deterioration.	false
+2077141f46c4107765fb0001b599241daa8acf93	Alexander disease is a rare, sporadic leukoencephalopathy characterized by white-matter abnormalities with frontal predominance and, as a rule, clinically associated with megalencephaly, @PHENOTYPICFEATURE$, @DISEASE$, and psychomotor deterioration.	false
+ce67ab0b3e956ba32a82c15ff0e7f34e19de6b6b	Consequently, patients with @DISEASE$ accumulate C27-bile acid intermediates, pristanic and phytanic acid and display sensorimotor neuropathy, @PHENOTYPICFEATURE$ and relapsing encephalopathy.	has_symptom
+7c7c0bc39cf7a1bb9a07954347b65421f4b91d07	The progressive @PHENOTYPICFEATURE$ in polyarteritis nodosa or @DISEASE$ patients may be treated by cochlear implantation.	has_symptom
+04b53254a417880c74779c39fab68d496b90401f	@PHENOTYPICFEATURE$ (SNHL) is typical in @DISEASE$ but occurs less frequently in Be?het's syndrome and in systemic necrotizing vasculitides.	has_symptom
+9c4523cb47157782a58a086ece37f4f3ca09e232	The patient's audiogram revealed cochlear pathology compatible with @DISEASE$ (@PHENOTYPICFEATURE$).	has_symptom
+1d3b853f2d418d2ef03d3d3952641b8be87ee679	Patients with @DISEASE$ typically present with nonsyphilitic interstitial keratitis and acute onset of @PHENOTYPICFEATURE$.	has_symptom
+dd133467210b59f48d7e4aa186fc9bd54791ee76	@DISEASE$ is a chronic inflammatory disease of unknown origin, characterised by @PHENOTYPICFEATURE$, episcleritis, and vasculitis.	has_symptom
+52a462d41e6ddb6cd6604bb144a4f65c95c9c9ff	@DISEASE$ (CS) is a rare autoimmune vasculitis characterized by ocular inflammation and @PHENOTYPICFEATURE$.	has_symptom
+81b10613f8271ac8ed51530aa7ec6c45a243538f	Cogan's syndrome (CS) is a rare autoimmune vasculitis characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dae76a06e0318cf70101ff4b5cba8bbedf6fe3b3	Cogan's syndrome (CS) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$ and sensorineural hearing loss.	false
+d9aded4be0cf831f2c0384122b76cd87448cd24c	@DISEASE$ (CS) is a rare autoimmune vasculitis characterized by @PHENOTYPICFEATURE$ and sensorineural hearing loss.	false
+3480c40319d83c467ac0e3fbdc4315c0e309a0dc	@DISEASE$ is a rare inflammatory disorder, classically characterized by interstitial keratitis and @PHENOTYPICFEATURE$.	has_symptom
+636f9186d8434102b356678c408b8cc825b2e4e6	The present study gives a detailed report of a patient with atypical @DISEASE$ with uveitis and @PHENOTYPICFEATURE$.	has_symptom
+a46795e9c66c877da87a05635c0eaf10dcbdb2ab	A 69-year-old man with @PHENOTYPICFEATURE$ and iritis was diagnosed with atypical @DISEASE$.	has_symptom
+fda933a77a416e689955845a0ce499ef740c0ae0	@DISEASE$ (CS) is a rare chronic inflammatory disorder, classically characterized by interstitial keratitis and @PHENOTYPICFEATURE$.	has_symptom
+8b0b68d669ae3fb3823d2869e71863818ef1e618	[Progressive @PHENOTYPICFEATURE$ and facial paralysis as early symptoms of @DISEASE$].	has_symptom
+9d3a54f259da805ecd5aaaaf663dc27072d2e1b4	@DISEASE$ is a rare progressive bone dysplasia; involvement of the skull base can lead to @PHENOTYPICFEATURE$, vestibular disturbances, facial paralysis and damage to the optic nerves.	has_symptom
+c30478365f55a507a0ecf3ec54f557edf9a21a3f	In @DISEASE$ HR-CT can impressively demonstrate the involvement of the skull base and also correlate well with the clinical symptoms of @PHENOTYPICFEATURE$, vestibular disturbances and facial paralysis.	has_symptom
+067033f82b0d28594cbcb3a087754d60e1ebf856	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and mental retardation.	has_symptom
+c0a73be9ba0deaae6fc159845a5e128de2388a57	The main clinical symptoms presented by MSUD patients include ketoacidosis, @DISEASE$, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+ed825cf2a99e2d9a649172b3594494062713d3c4	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+98cf8176590141117054dad2bb1d8522675510b0	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, @PHENOTYPICFEATURE$, convulsions, coma, psychomotor delay, and mental retardation.	false
+45f3922a9fd28e70c37494041500b72e92010a16	The main clinical symptoms presented by MSUD patients include ketoacidosis, @DISEASE$, opisthotonos, poor feeding, apnea, @PHENOTYPICFEATURE$, convulsions, coma, psychomotor delay, and mental retardation.	false
+cfd21790ef7fa2e7521235a4612ce089bb50a66a	The several forms of @DISEASE$ that occur in infancy include transient neonatal @PHENOTYPICFEATURE$, congenital myasthenia, and familial infantile myasthenia gravis.	has_symptom
+5bfec175229f496347e587607c99f21616c1638c	@DISEASE$ may be limited solely to the eyes (ocular @PHENOTYPICFEATURE$) or may have systemic manifestations (generalized myasthenia).	has_symptom
+a73b539da7217f37d0fea7235fd0f37e4257c27e	The grandmother and granddaughter have ocular @PHENOTYPICFEATURE$ and an aunt in the second generation had generalised @DISEASE$ with a thymoma.	has_symptom
+4c867900b45beb25cd2f54cdec13a61938645082	Ocular @PHENOTYPICFEATURE$ is the milder end of the @DISEASE$ spectrum but treatment can be challenging especially in older patients.	has_symptom
+3591d1a11a481322b53a66b248b6b3876f6695d9	Ocular @PHENOTYPICFEATURE$ (OMG) is a special form of general @DISEASE$ (MG), characterized by unilateral or bilateral ptosis.	has_symptom
+f7b68843d5786295ce621bc83c3559ed80342487	We recommend obstetrical monitoring in tertiary centers for pregnant women with @DISEASE$ because of the risk of neonatal @PHENOTYPICFEATURE$.	has_symptom
+b780a3213f40ee5510a5200a56825d57f0baca7b	Ephedrine for @DISEASE$, neonatal @PHENOTYPICFEATURE$ and the congenital myasthenic syndromes.	has_symptom
+0c1473b6d8baaae77a33bf83de86aa4a14e587cd	Maternal @DISEASE$ has been associated with the presence of neonatal @PHENOTYPICFEATURE$ and sometimes fatal congenital anomalies.	has_symptom
+c6b9797c0c801da4536b25a29eeeb7f5ee510da0	Approximately 50% of people with @DISEASE$ present with purely ocular symptoms, so called ocular @PHENOTYPICFEATURE$.	has_symptom
+4109903f44f02358cd0ece5665b7d5417b4a910f	Steroids and thymectomy may modify the course of ocular @PHENOTYPICFEATURE$ and prevent @DISEASE$ generalization (good practice point).	has_symptom
+830e8e08fa8561f823e90d447526c3876167c294	Recent studies of @DISEASE$ (CHH), a form of @PHENOTYPICFEATURE$, have shown that all affected individuals have a cellular proliferation defect that results in a cellular immunodeficiency.	has_symptom
+931144f4ca51cb9f8698f4910819bcc0007ab830	@DISEASE$ (CHH) is a rare autosomal recessive @PHENOTYPICFEATURE$ associated with thin and sparse hair and cell mediated or combined immunodeficiency.	has_symptom
+b21add5687957fa934122281e278fedccc146c7a	We present a case of an 8-day-old infant boy with @DISEASE$ who presented to our emergency department with profound dehydration, @PHENOTYPICFEATURE$, and hyperglycemia.	has_symptom
+cfc3aa30e1b9231b509b48d4a42e224aff39f4ba	@DISEASE$ (TNDM) is a rare condition which presents with intrauterine growth retardation, dehydration, and @PHENOTYPICFEATURE$.	has_symptom
+c3352d3447d289a98a2c0c4a841b200f197b42ab	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and @DISEASE$; some predisposing factors are seizures, @PHENOTYPICFEATURE$, labor, preexistent hepatic disease and trauma.	has_symptom
+9a04ccd8a699253b2aad6d823f8ae3bb4a08827a	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are @PHENOTYPICFEATURE$, vomiting, labor, preexistent hepatic disease and @DISEASE$.	false
+10ad410658ec6c8b706e167b0574130239dd0837	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and @DISEASE$; some predisposing factors are @PHENOTYPICFEATURE$, vomiting, labor, preexistent hepatic disease and trauma.	false
+9349ffe77d6bc91c631b82e900d696e93933e302	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are @PHENOTYPICFEATURE$, @DISEASE$, labor, preexistent hepatic disease and trauma.	false
+3b569a7c429a0a3c8c79f5751172959e8465088c	The most common causes of hepatic hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are @PHENOTYPICFEATURE$, vomiting, labor, preexistent @DISEASE$ and trauma.	false
+04acb4d89e1eb0b11387fb9c0589f589323797f0	The most common causes of @DISEASE$ hematoma in pregnancy are severe preeclampsia and HELLP syndrome; some predisposing factors are @PHENOTYPICFEATURE$, vomiting, labor, preexistent hepatic disease and trauma.	false
+8d0b33054305d838eedaa351a4e302ba52f45343	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, @PHENOTYPICFEATURE$, epigastric pain, edema, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	has_symptom
+3b474c4876f6003e69df53387cf42cb79d88e8bd	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, edema, @DISEASE$, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+73d3891c18eee77d3abb56b9d98cfcbbccb74c1e	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, edema, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+8e8f80ec85d72dad1b6a4cd113a4bf009fcf5f3f	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, @DISEASE$, epigastric pain, edema, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+e94ba74dd511775439ef8dbc4d5f32f1713ce638	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, @DISEASE$, epigastric pain, @PHENOTYPICFEATURE$, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+b39beb430dc9ae7f44cabb6e65fd61731e58d00d	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, vomiting, epigastric pain, @PHENOTYPICFEATURE$, @DISEASE$, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+7c2ca4607ae99e137c6d3dc17c13e5a656da0c8d	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, vomiting, epigastric pain, @PHENOTYPICFEATURE$, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+d8ff89456d6cbe0e376d007b87540026386aaa45	@DISEASE$ manifesting as isolated @PHENOTYPICFEATURE$.	has_symptom
+e17bc96075f94312f5ca037f1767383edf58de9f	@DISEASE$ causing symptomatic @PHENOTYPICFEATURE$, osteomalacia and coagulapathy.	has_symptom
+1a2c102036e0af216be35a866705ee6c3ec16c0f	We report the case of a 26-year-old man with acral tetany and muscular cramps of the upper limbs associated with @PHENOTYPICFEATURE$ caused by hypoparathyroidism and @DISEASE$.	has_symptom
+54a0956337f71eb64fb0fae8c0ed36c08c5b7e61	We report the case of a 26-year-old man with acral tetany and muscular cramps of the upper limbs associated with @DISEASE$ caused by @PHENOTYPICFEATURE$ and celiac disease.	false
+d03a695ad95b9e003e8b05e4c5528dfb61d68389	We report the case of a 26-year-old man with acral tetany and muscular cramps of the upper limbs associated with hypocalcemia caused by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7afdc9e45a3a4bfb9e808af5419946c99e4be647	A patient with @DISEASE$ and the unusual features of transiently elevated sweat chlorides, reversible exocrine pancreatic insufficiency, symptomatic @PHENOTYPICFEATURE$/hypomagnesemia, and transient secondary hypoparathyroidism is presented along with a brief discussion of the physiologic mechanisms thought to underlie their development.	has_symptom
+ad8fa36306f7ceeeeb86b9dac3eb2491e5847bb0	A patient with celiac disease and the unusual features of transiently elevated sweat chlorides, reversible exocrine pancreatic insufficiency, symptomatic hypocalcemia/@PHENOTYPICFEATURE$, and transient secondary @DISEASE$ is presented along with a brief discussion of the physiologic mechanisms thought to underlie their development.	false
+540d373167720fc2fce9d69628a5a92f2d9bdc47	A patient with celiac disease and the unusual features of transiently elevated sweat chlorides, reversible @DISEASE$, symptomatic hypocalcemia/@PHENOTYPICFEATURE$, and transient secondary hypoparathyroidism is presented along with a brief discussion of the physiologic mechanisms thought to underlie their development.	false
+7947b2d469c2070a95f2e9edde444b1f90d11a55	A patient with celiac disease and the unusual features of transiently elevated sweat chlorides, reversible exocrine pancreatic insufficiency, symptomatic @DISEASE$/@PHENOTYPICFEATURE$, and transient secondary hypoparathyroidism is presented along with a brief discussion of the physiologic mechanisms thought to underlie their development.	false
+8deae6a2544402e9005f14a15038c998ac9787cf	A patient with @DISEASE$ and the unusual features of transiently elevated sweat chlorides, reversible exocrine pancreatic insufficiency, symptomatic hypocalcemia/@PHENOTYPICFEATURE$, and transient secondary hypoparathyroidism is presented along with a brief discussion of the physiologic mechanisms thought to underlie their development.	false
+e0f21b7f4a3bb02886b953711028e98ef8439605	A 40-year-old woman with @DISEASE$, @PHENOTYPICFEATURE$ and generalized tonic-clonic seizures is reported.	has_symptom
+083f05b8d7993728c134db7f3588a7908e1fab38	A 40-year-old woman with celiac disease, @DISEASE$ and @PHENOTYPICFEATURE$ is reported.	false
+df2df5421e03c2d5196860a822d1e76166ad1747	A 40-year-old woman with @DISEASE$, hypocalcemia and @PHENOTYPICFEATURE$ is reported.	false
+450954a98f71c57a4570afe41cccaddc95e73b29	Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic @PHENOTYPICFEATURE$, or multiple @DISEASE$ results from two large observational studies.	has_symptom
+40062b86a24190b0c76e946801be9ca7961db810	Patients' diagnosis included amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, primary @PHENOTYPICFEATURE$, @DISEASE$ and ALS-Frontotemporal dementia.	has_symptom
+bcc75cdabcac87e99240ec45b74aee975146d545	We describe our anesthetic experience with the laryngeal mask airway and endotracheal tube in two neonates with @DISEASE$ and severe @PHENOTYPICFEATURE$.	has_symptom
+0659ab82aa5bad121ebc8e29f2adf096cce26c3d	Noteworthy, two of the six children with @DISEASE$ had @PHENOTYPICFEATURE$, and four of the six children with merosin-positive congenital muscular dystrophy had a severe form of the disease with ventilatory insufficiency and death during infancy.	has_symptom
+7a9a44f031e8b5569772d54716c3a8ad926462e9	Primary systemic @DISEASE$ or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic @PHENOTYPICFEATURE$, which is highly responsive to L-carnitine therapy.	has_symptom
+a8198e08e334ddbb239d0262d443441117451b74	Primary systemic carnitine deficiency or @DISEASE$ (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic @PHENOTYPICFEATURE$, which is highly responsive to L-carnitine therapy.	has_symptom
+08ba2e24b6383561070ef19708265dc0dd3b3bc3	@DISEASE$ presenting with @PHENOTYPICFEATURE$ and hyperammonemia in a patient receiving chronic enteral tube feeding: a case report.	has_symptom
+3c116e9b0458fae3a8dce0d6d60cd91a5af995f9	VPA-induced hepatotoxicity and hyperammonemic @PHENOTYPICFEATURE$ may be promoted either by a pre-existing @DISEASE$ or by deficiency induced by VPA per se.	has_symptom
+6e6fed626c5fbc40eb368c449c0ba1ec024e3233	In systemic @DISEASE$, an early phase of nonketotic hypoglycemia and liver dysfunction may precede a late phase of @PHENOTYPICFEATURE$ and myopathy.	has_symptom
+5d91d2a5ead62b7a9c492e6863278cc224092c14	@DISEASE$ in adulthood is unusual, and @PHENOTYPICFEATURE$ due to carnitine deficiency as a result of celiac disease has not been described previously.	has_symptom
+5de69a9aca746e9082841e9fee904b52d65fbaef	We describe a 60-year-old female with simultanagnosia, @PHENOTYPICFEATURE$, and optic ataxia for which she received an initial clinical diagnosis of @DISEASE$.	has_symptom
+1e6ddf1a1d45447148af00642fb885e2542a05cc	Pointers to GLUT1D include an increase in seizures before meals, @PHENOTYPICFEATURE$, or @DISEASE$ which can easily be overlooked.	has_symptom
+5251f49b59dc7b7f1386e70d81031b6c0702e108	Pointers to GLUT1D include an increase in @PHENOTYPICFEATURE$ before meals, cognitive impairment, or @DISEASE$ which can easily be overlooked.	false
+4e89ceabc238ba5cb13a049efa4cdc597932c67d	Pointers to GLUT1D include an increase in @PHENOTYPICFEATURE$ before meals, @DISEASE$, or PED which can easily be overlooked.	false
+deab67da7f42c3d7619b94797e530946da78f7d1	In our case, we describe a newborn with mosaic deletion encompassing HCCS gene resulting in unilateral @PHENOTYPICFEATURE$ and @DISEASE$ skin lesions.	has_symptom
+f66039585e7c13d71520a80632b91088fd0b8e85	The association of congenital cataract, @DISEASE$ dysmorphic features, and @PHENOTYPICFEATURE$, should guide the diagnosis of dysmorphic syndromes such as Hallermann-Streiff-Fran?ois syndrome.	has_symptom
+ec5cb505b1003ddc6e3e35b9c4333d2abfef353b	Linear @DISEASE$ skin defects associated with @PHENOTYPICFEATURE$ and other malformations, with chromosome deletion Xp22.1.	has_symptom
+c2008580c538e68780cf19e292e91be34f4b0d10	Twin brothers with @PHENOTYPICFEATURE$, @DISEASE$ dermal hypoplasia, sclerocornea, and supraventricular tachycardia, are reported.	has_symptom
+e4fdc2f19338545255e910241f2e1aad8fbd9853	We report a patient with bilateral @PHENOTYPICFEATURE$ with cyst, limb anomalies, and multiple @DISEASE$ malformations.	has_symptom
+a41103bc488f9e39ee415789adc0e36ebacb1667	We report a patient with bilateral @DISEASE$ with cyst, @PHENOTYPICFEATURE$, and multiple facial malformations.	false
+ded08cf462882df6f032251fb9cccb179e92843f	We report a patient with bilateral microphthalmia with cyst, @PHENOTYPICFEATURE$, and multiple @DISEASE$ malformations.	false
+eecdef39baa88a9f2ebd18995b989c2aa9e1d160	@DISEASE$ anomalies, @PHENOTYPICFEATURE$, cleft palate, small penis, and flexion contractures of large joints were noted.	has_symptom
+6acde7e8653417f5822cb3423f8899ef6c401fd8	Facial anomalies, @DISEASE$, cleft palate, small penis, and @PHENOTYPICFEATURE$ of large joints were noted.	false
+61c50ef4904219872e8d565acde475172af40833	@DISEASE$ anomalies, microphthalmia, @PHENOTYPICFEATURE$, small penis, and flexion contractures of large joints were noted.	false
+212ab820cdd420f985695d189ce8c9dd51035f6c	Facial anomalies, @DISEASE$, @PHENOTYPICFEATURE$, small penis, and flexion contractures of large joints were noted.	false
+d679a432693a826cbb00e6fe4da135b8bba39a5c	@DISEASE$ anomalies, microphthalmia, cleft palate, small penis, and @PHENOTYPICFEATURE$ of large joints were noted.	false
+b975e37d6e47adf08b7b47fa6d3ddc8c8f5dd422	Other major anomalies included broad thumbs and great toes, @PHENOTYPICFEATURE$, arrhinencephaly, patent ductus arteriosus, stenosis of the ureterovesicular junction, bilateral cryptorchidism, and minor @DISEASE$ anomalies.	has_symptom
+115d4af376d7ff7b60ba576810ad52a08caecb32	At birth, the 3200-g female infant had multiple cardiac defects, bilateral optic nerve colobomas, @PHENOTYPICFEATURE$ of the left eye, cerebral and cerebellar atrophy, and @DISEASE$ anomalies.	has_symptom
+9ce36b6710b2e15678071b21da6eab64de95d112	An unusual case is described of multiple congenital @DISEASE$ anomalies, including proboscis lateralis, @PHENOTYPICFEATURE$, and cystic degeneration of the optic nerve.	has_symptom
+00d69758fd7e18473f3868d1bea45188bab594e6	We report on 2 male cousins with minor @DISEASE$ anomalies, microcephaly, colobomatous @PHENOTYPICFEATURE$, psychomotor retardation, short stature, and skeletal malformations.	has_symptom
+e91d4386e427dffe73be215ffb338f514aef4c67	We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous @DISEASE$, psychomotor retardation, @PHENOTYPICFEATURE$, and skeletal malformations.	false
+4558439168f2d454b27c91791c9d4b4415be0fc0	We report on 2 male cousins with minor @DISEASE$ anomalies, @PHENOTYPICFEATURE$, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations.	false
+c029ae82d39f50fbeee7caf13663c58761de8f5f	We report on 2 male cousins with minor facial anomalies, @PHENOTYPICFEATURE$, colobomatous @DISEASE$, psychomotor retardation, short stature, and skeletal malformations.	false
+f0b33e837933e2d4d65473b1d84a6e906cb541f0	We report on 2 male cousins with minor @DISEASE$ anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, @PHENOTYPICFEATURE$, and skeletal malformations.	false
+c1cff641d64385f0268d61b340be5e3239d7f408	Germline WT1 missense mutations located in exons 8 or 9 coding for zinc fingers 2 or 3 have been detected in nearly all patients with @DISEASE$ and in some patients with isolated @PHENOTYPICFEATURE$.	has_symptom
+054629e0cabb6f961c5cdcfa73876e78af2517cb	The @DISEASE$ is associated with marked eosinophilia and @PHENOTYPICFEATURE$.	has_symptom
+25d481951d2c4c5179b92e7d2df312287785fc6e	The Churg-Strauss syndrome is associated with marked @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dcde80604e47fb5fa6f80f3ab9b8d7b774067952	The @DISEASE$ is associated with marked @PHENOTYPICFEATURE$ and asthma.	false
+eb5739198364b430c1b1bda1060db085670e8d33	Other diseases showing airway hyperresponsiveness, such as allergic bronchopulmonary aspergillosis, @DISEASE$, and left heart failure presenting cardiac @PHENOTYPICFEATURE$, may sometimes show similar clinical pictures to COPD.	has_symptom
+b7f0c7478e055cfbb6914c29882902b1472835f3	Other diseases showing airway hyperresponsiveness, such as allergic bronchopulmonary aspergillosis, Churg-Strauss syndrome, and left @PHENOTYPICFEATURE$ presenting cardiac @DISEASE$, may sometimes show similar clinical pictures to COPD.	false
+1c7ada55d24b431b5b6ac07ac767015e94d8c9f8	Other diseases showing airway hyperresponsiveness, such as allergic bronchopulmonary aspergillosis, @DISEASE$, and left @PHENOTYPICFEATURE$ presenting cardiac asthma, may sometimes show similar clinical pictures to COPD.	false
+7b54c0642e94102f587c7ac217cea86b35046206	@DISEASE$ is a rare, necrotizing systemic vasculitis associated with @PHENOTYPICFEATURE$ and hypereosinophilia.	has_symptom
+10b43d0cc45e94a6bc411b01b70e323f69023cad	Eosinophilic granulomatosis with polyangiitis formerly named "@DISEASE$ (CSS)" is a systemic disease with @PHENOTYPICFEATURE$, hypereosinophilia, and systemic vasculitis.	has_symptom
+1a69703579c43984a0f2f8225c46c5983c74d978	@PHENOTYPICFEATURE$ may be present in bronchocentric granulomatosis and @DISEASE$.	has_symptom
+31fcdcd0f5f1486163c855add28763ce12c8c356	The patient had @PHENOTYPICFEATURE$, hypereosinophilia, radiographically determined migratory pulmonary opacities, and paranasal sinus abnormalities, thus fulfilling the American College of Rheumatology criteria for @DISEASE$.	has_symptom
+7a63817132901cb6d5eb52455e58d57a45e43440	@PHENOTYPICFEATURE$ and eosinophilia distinguish @DISEASE$ from microscopic polyangiitis.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+96d815f7410dd48c2514987be7268188228f1ae4	This list included the arthropodborne viral infections prevalent in southern Africa, namely, chikungunya fever, Sindbis @PHENOTYPICFEATURE$, West Nile fever, yellow fever, and Rift Valley fever; viral infections associated with rodents, such as Lassa fever; the viral infection associated with monkeys, @DISEASE$; the rickettsial infections; tick-bite fever (the variety of spotted fever of tick typhus occurring in southern Africa) and Q fever; the bacterial infections, especially the coccal infections, plague septicemia, and meningococcal, staphylococcal, and streptococcal septicemia; and the blood protozoal infections malaria and trypanosomiasis.	has_symptom
+a4b251895406080129112c8525749289edd8a048	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	has_symptom
+299989f6ada95d5b737baa0602531bff6a7d9b28	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures).	false
+a7248305c666cb430f488db85bd3e69c11d0d479	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @DISEASE$).	false
+2f843ffc3d08cc27400f0dfd96e3bb164f491ad3	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures).	false
+8051479667d1f4855694fad86abd8a21b1cd7fba	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and Seizures).	false
+ee8b70c6db3b9e1b0c04ecaf5b90ea5f090f7105	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and @DISEASE$).	false
+2f07f3128de7f030d80d2a3f9d66c439e92fa3de	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and Seizures).	false
+f17b622f0866dd103e298ea249504b3429a4a51f	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and @DISEASE$).	false
+4f893089d5b98c78a0e065643ae8aa2354eb7e8f	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+267a8b626885bd3c430714469682fa4bb415d823	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a1ed561298bdeee8a6de0238b5a72fc8135f5fcd	@DISEASE$ (CAHP) in its X-linked form is associated with @PHENOTYPICFEATURE$ (HH).	has_symptom
+f03a4b077c65e24072c8e6a65b1fe8dac63b1d93	Gene deletion causing @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ccaf84fb9a71dab7b145cc691b44cd8166aa3510	A de novo mutation of DAX1 in a boy with @DISEASE$ without @PHENOTYPICFEATURE$.	has_symptom
+64d5e882a262a2afb0802a3cbe8ee7b07e75b87d	A new DAX1 gene mutation associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a9bf0e1820c06726bef083ee36d4734fa976e291	Novel DAX1 mutations in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ea27e57839ee4b64fe556a470eaf2c7cffe7ef18	Seminiferous tubule function in delayed-onset @DISEASE$ associated with incomplete @PHENOTYPICFEATURE$.	has_symptom
+408288d9e5eef8dc0cf4483c6f45ca01c06fc00d	Mutations of this gene determine @DISEASE$ (AHC) and @PHENOTYPICFEATURE$.	has_symptom
+b1434a2b95bc2b3df666bb3ae46087b00761aba0	Lack of DAX-1-mediated silencing leads to @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c118120fca4ca5237ff0c2e707336dc142c88a67	A microdeletion within DAX-1 in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+4de9cabf940ddfc329b1cfe86bca3b94cf355d3f	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	has_symptom
+bb2a679d3ba60eaf94c8e181e5d0fffae8e1a2ce	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+53d3aeaedd31affa377c0cb2403ade1b9a4cd78e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+d2f9938d4ed609b11cdbfe4f93953d9b98940b59	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+155796b9745bdcf0b8156e5ba88a50e43d1dccb9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+2f892a351a10dfb968e106b194c2cf72987b3ec9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c94135fecc8a1bd73ca2e249934a8581683de303	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+5c065a2571f6f4983b81cbbf9cb26852574f14f9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+8541bb298d1a5b89c07e6ff4d20ff185579bd5c4	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @DISEASE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+22e01794db2ce1eea96785e1f82272b243a61481	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b24391f8f8229da94c896ddabdf6ff2d1f5aacf0	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+df4e9c80d473876290316169bbb51a8646ea21e3	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @DISEASE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1195e95322cc264d73229b2a68f4c61c03653d4c	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+7415f2d7dee5bac3064cd05243543ceefbf15db8	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b0355f0e0b79db0363920e05ab42e7df3a86a210	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @DISEASE$ deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+8e36efd229f6c19704f76026fd31f884e8c33d5a	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @DISEASE$ deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b3ff9eaacf251b2d2f69248da6ffc6ba5f44fca0	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c07dace6c9b20f97590f519f372516ec9bb25ee5	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+bb45d2580870719a3522feac12bf626349e8bfb6	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+5b80dbf3f26cf5f384c0690ef417902ebd8370b9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+f00179020597afb8f790103302d3a14a9d80e0f8	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+237e1f24873c7bb696c7c478f6d11b9a727407b3	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+cd109cde0d129de0de619cb59834893aa592e1f7	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+cebf46437b1cc2fbf8e210ffb297649b480cb7c2	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @DISEASE$ deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+57ed347b5d9e644f738cac5afbf8708f1497f83e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+074a8d823f761dff50d1398dd7cba6ca06f62bb9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c95d999b4f36a935c31ebe41d7a7fc59ff953285	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+da94cd5c64bb7d9470695652642c473c2c0d129e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @DISEASE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+8be94d021718ced7ea60bc599bde04b176b2030b	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+73c8d5a90d32653929f8b1e553614cb4513722f9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1d47bdd9519b5f15df223a402d349694732e1582	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+e79822dd51b657c63a2cc4dc0934ab87ec1e1cb0	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes including @PHENOTYPICFEATURE$, conotruncal heart defects, and facial dysmorphology.	has_symptom
+8ac46de353c4105cce0a3e032caac80e58924a10	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes including @PHENOTYPICFEATURE$, conotruncal heart defects, and facial dysmorphology.	has_symptom
+1b5296a19957968cdceec837602f219126ad1184	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and @DISEASE$ dysmorphology.	false
+c604effb76eb0c3c93b654a95bd0d1c15f2bc338	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+0fe0b18732a155d199f5b63f39ea0e99387d93e4	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+6c200e1a036baf4742e687baa9c88c0c6a60b54e	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including @DISEASE$, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+ad5460279fec8577bcbc72ce93a838e7866cd371	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+146fcfb8a9b46f90113e77a5edc9196b5b0d8e08	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, @PHENOTYPICFEATURE$, and facial dysmorphology.	has_symptom
+80fdc3460a43e730683b9830003e2c96592aa54d	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, @PHENOTYPICFEATURE$, and facial dysmorphology.	has_symptom
+cad323fc66b359d8831f62fe77bbf65bf69c7d07	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+b64e4a3a0d017fdbfe3c6fe433a9c6df3bebd6bb	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, @DISEASE$, and facial dysmorphology.	false
+279f9cb8cb831a069559515359354190b709330f	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+908e1fef6b8239a42b5b3ec68b20b78c2f2ae259	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+7838618317b83840d3c38a1da016e37f54548aa0	Exclusion criteria included @PHENOTYPICFEATURE$, submucous cleft palate, all syndromic cases, and all associated malformations (except those related to 22q11 microdeletion in patients with @DISEASE$).	has_symptom
+b45b680028c2d2284fdeca87a7f70299b5a93214	Exclusion criteria included cleft palate, submucous @PHENOTYPICFEATURE$, all syndromic cases, and all associated malformations (except those related to 22q11 microdeletion in patients with @DISEASE$).	has_symptom
+3e0e39e5a624b7ccea996071ae7a44b84efad7c9	(@DISEASE$) region was studied among babies born in Norway with open @PHENOTYPICFEATURE$ without cleft lip (cleft palate only, CPO).	has_symptom
+1a5c6fc46603d0d5ab01ec8baf08c4e420a68041	(@DISEASE$) region was studied among babies born in Norway with open cleft palate without cleft lip (@PHENOTYPICFEATURE$ only, CPO).	has_symptom
+d3c42b483bcce96858786623b8df2af70cd351e3	Prevalence of duplications and deletions of the 22q11 @DISEASE$ region in a population-based sample of infants with @PHENOTYPICFEATURE$.	has_symptom
+f9e500cf67360e3bb48f34b85950f9ca26890320	The @DISEASE$ (22q11DS) may be associated with several palatal abnormalities, including overt @PHENOTYPICFEATURE$, submucosal cleft palate, palatopharyngeal disproportion, and velar hypotonia.	has_symptom
+f63511e1ff704b3285fabc506d8d8fe587a18d4d	Treatments can often correct many of the critical and immediate problems associated with @DISEASE$ such as heart defects, calcium defects, poor immune system functions and @PHENOTYPICFEATURE$.	has_symptom
+9452ad4892a3565391f9f394e9444d82d5d8799c	Treatments can often correct many of the critical and immediate problems associated with @DISEASE$ such as @PHENOTYPICFEATURE$, calcium defects, poor immune system functions and cleft palate.	false
+74c9532bf858a0e03424dfa977b4b52e18964bba	Treatments can often correct many of the critical and immediate problems associated with DiGeorge syndrome such as @PHENOTYPICFEATURE$, calcium defects, poor immune system functions and @DISEASE$.	false
+88c872093bef7938589a40689774863ba2afcf8c	Treatments can often correct many of the critical and immediate problems associated with DiGeorge syndrome such as @PHENOTYPICFEATURE$, @DISEASE$ defects, poor immune system functions and cleft palate.	false
+a40b5607296534a4418496141a198444eefe3697	@DISEASE$/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and @PHENOTYPICFEATURE$.	has_symptom
+2def15f30eb88e3295afbd90248130530ca3f34b	@DISEASE$ (22q11.2DS) is most often correlated prenatally with congenital heart disease and or @PHENOTYPICFEATURE$.	has_symptom
+d4d3d42909a77bba3480a0fbe037b24c2d4ad67f	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	has_symptom
+6e7e202c72d4e4884f21bc570084098eaf36eb92	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	has_symptom
+b148e099ae92cf7ce04617041fd8053250253136	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @DISEASE$, and @PHENOTYPICFEATURE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+04c7953a00fe008d903f15bd04ac7876afbcc311	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+275c4edd8a6247f38fabe6c14fcf27a791282a96	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, @DISEASE$, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+68809e1ea86ddc5ec98cebfe5f703108466fa8ae	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, @DISEASE$, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+3ba1dbf953a6a66ff1e7e6d5d527d5d40b8da893	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+fd5ca10f1f92e19036155420b0014fc638cd5bda	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+0aaece4287a50d82c87ecd4f3cbd533cebfd68c5	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+4ee4c35c88fd3dd6ecde458061c9bae3e7f60174	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+69bcef78a2accdda0aacde7c9881255fb04f0afc	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+52ff617a714fffbe375b427dd56d6bbd8e9a0005	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+2d75d79c85be9310eb211799ff15228fa4067f97	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+e761b1e1910e295b733b16d98be5c4842448b182	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+04d7831aa51078890724b4ebdd5e8d39e4ff3d48	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+064c02b4e1c2cb31cbb4810dc714ad395ad87eff	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+a763da704366a9a9ac22bff6723da4917edecc14	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+d92b14e460aaf0f8fa5552f0e8f79689365b80a7	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic @PHENOTYPICFEATURE$, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in @DISEASE$, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	has_symptom
+f3ba9099558db6ed55d90a58b7c3622c8170998a	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$ and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's @DISEASE$, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+95c33330fe5606f22a41a6ae1438f43a66795041	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (@DISEASE$) and NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$ and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+9dba509b1f4f40ca458842a1892b36abc654c95e	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (@DISEASE$) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+c76493043e554c5579cebe2e148b4ef8ca75d7f8	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (@DISEASE$, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+a8332de4f04edbe04e975001031e335d4c7ec380	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's @DISEASE$, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+8ff3841fb1cec7523656d05c65aae761655ec55d	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, @DISEASE$ with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+0e7af7a9eccba9517d1cd55c22adabb818cf98a1	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+62dbae9321f4016233f7f668bdf922f854c4e2b5	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (@DISEASE$) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+f660ed31ef6e815a8b38d8815c9b64f8d162d447	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in @DISEASE$, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+8074e831dd571bb622679b788f33c8d008740630	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and @DISEASE$) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+65fe36c9de93b238051f7e1744f90e45bc5a7746	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's @DISEASE$, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+26da8a8e7e5ece7f29f2a61fda08f321e9a03c2e	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$ and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, @DISEASE$ with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+ca701461ccf3a394b1de6f1d8726eaf9ae38aaaf	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$ and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in @DISEASE$, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+1da2da01b4efa57b7b8988d5afb6e5f809f67be3	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$ and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (@DISEASE$, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+e24f00c69176c652df90eb94cd8c80f1566ad5eb	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (@DISEASE$, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+6ddf188be65704f29daebb822430f05d56a98426	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic @DISEASE$, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+5d3fddc1be111a92f60b918f41e5f53fc1052b5f	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+aeafeb2350582df124e1ff227262542f190adbf6	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in @DISEASE$, Pearson's syndrome, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+e6783f27c832f39e77d0f44ab93a9884fe3f6465	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and @DISEASE$) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+7de4e15aadd75f0d4b66189614d2fe7cab7f1d9e	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic @DISEASE$, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+7fc044ab32b06fd9686086bc5ac788763b98969d	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (Leber's Hereditary Optic Neuropathy) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, @DISEASE$ with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+3b3c7cc1d86d58caf440f5212f71260c0048a99f	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the @DISEASE$ (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa (NARP), and Leigh's syndrome.	has_symptom
+81637a366a1a8e158429925c6f5975c6e98f63fd	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the @DISEASE$ (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+b3a7695165c5f6c0fb1a988ddcebaa3c29c9a917	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic muscle weakness, ataxia and @DISEASE$ (NARP), and Leigh's syndrome.	false
+2d382b544ce0c51e3b56c4354f745536a33a512c	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), @DISEASE$ (LHON), the syndrome of neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+6f0d832d4ba5273f2a979d37d651a9ff619c065c	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), @DISEASE$ (LHON), the syndrome of neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+4313086fbf29b78b1eca84680566481f8d4d89ec	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP), and Leigh's @DISEASE$.	false
+6030cb874ea16850a65223a52fa6b2d7b6b84472	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the @DISEASE$ (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+affe3be1f8cc5b8ca72c7481c209fef354e9718e	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP), and Leigh's @DISEASE$.	false
+0d8e085fd8eadc72bdcee5aeb2911636bae78e97	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic @DISEASE$, ataxia and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+7e33561b9668b31af778a34c90c3951a764c99c7	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$ (NARP), and Leigh's syndrome.	false
+a99e340705a72a16d2e8cd290e4b417fe18f2843	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), Leber's hereditary optic neuropathy (LHON), the syndrome of neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+5b53ddc3cebf79adce077f5767c3ec5a5d8b3b4c	Ataxia is a major clinical presentation in @DISEASE$; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	has_symptom
+e527303dcce95942a8f179d6f37c07c6c4d3e0b2	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and retinitis pigmentosa; Leigh's syndrome; and @DISEASE$.	false
+4e22d7104d91d09a4f485116f33beb30b7d15573	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and @DISEASE$; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+2e7ba2e2a43cde2996c956470581b966414060aa	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic @DISEASE$, ataxia, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+3c9eaef1253fd11c04cd98f6f4154e9f270f3452	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+05433c99a163d1f7706195546f51ba2f762585cc	@DISEASE$ is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+d90ed1e5d8eec301ae0023ac4d6d1dcdf75987ff	Ataxia is a major clinical presentation in @DISEASE$; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+36aec49c13d64597baa9d5e06946d0269096f718	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic muscle weakness, @PHENOTYPICFEATURE$, and @DISEASE$; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+1140cc8a1ff63293662f8b4be34ecea58c0b8ab6	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa; Leigh's syndrome; and @DISEASE$.	false
+22a686c0265b50b1ef1a83e841a5f8606b320d01	@DISEASE$ is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+83368a7388f35c026ee38fe5656b31b8db09ccaa	Ataxia is a major clinical presentation in @DISEASE$; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+9f75cbe43ea442aab59de65b24b8de8c75bbdb92	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	has_symptom
+307faece92bc9845a5a05eeb7bc75283890965ce	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+7ecdf8cda7dce7ff4e3d52425497c23f014c88bb	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+9e9e40fda96516c881c9a7471b00464d6e6e75e8	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+83db851e268dcfd7be72d3ba7eccb043fff7c728	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+316809e6385c49731d288db8dce426fc2de94f1b	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+f759deb8d9b248be11c0c87cd37645714d07ffe5	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+c3f1da211fa8e059add968df8011e12f572f768d	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+ba4e366f5ed7b7c3e68d0e5354322af48857ffc4	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+0f6a21af977fe696da6a456656bad066b8120e6c	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic @DISEASE$.	false
+e33acfed8c6966b4f30f279c2f2661e0cbc62371	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+83e263a0073750c74b2ddc340cfa0e303d35ba5b	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+31fc084be7fb312729e7bb7e684936c946498117	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+323260759bb18d6ad18e4e4af5a50b5eaaa8bc90	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @DISEASE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+a91df41a5302286d347dc403580bbdf4a0eb55b8	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+af436b31128ba3c78a2859b77f5ed5829b917dc7	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+8e644b18409f545998f4aed51770d8f1c9bc10db	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+4d764075600ff1af6c331d0d0078bff990f9f50e	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+5ec12340ca72bea9b5938509b14a3e4ce18e8f65	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+bcb830f90a6fb673cb87a250733800646e0c1ef6	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+096e8b6028db2db9a00fd4a86853049096e421b7	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+7a857631b774201ffb86215f3f644d3f18b2eb85	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+7248039d258cb6e9ff7475e48d2a4248b61bfb23	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+dc68d09a760f562aa7e10574b0d360cc0b578bfd	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+3bfa392d01b5c6d5b8beba4420d04209b4f7ac1a	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic @DISEASE$.	false
+299989f6ada95d5b737baa0602531bff6a7d9b28	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures).	has_symptom
+9b621f9d33edba8f52b96ab25fe4e4b8abe8c888	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @DISEASE$ syndrome, known as SBIDDS syndrome (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and Seizures).	false
+a4b251895406080129112c8525749289edd8a048	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	false
+d6ad2766402373271f11ab73577db5fd0f6def84	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @DISEASE$ syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+8051479667d1f4855694fad86abd8a21b1cd7fba	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and Seizures).	false
+e8be2e031110c2c1f7fac045a06c166132a5b8a1	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	false
+2879a4024f83b9a14bb59421552d85d63c563434	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @DISEASE$ syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	false
+2f07f3128de7f030d80d2a3f9d66c439e92fa3de	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and Seizures).	false
+4f893089d5b98c78a0e065643ae8aa2354eb7e8f	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+267a8b626885bd3c430714469682fa4bb415d823	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+07751f1d3eaf4b0ef42aa9c6e877a5a8d18f7461	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @DISEASE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	has_symptom
+3d494e230b634e9b441cb98bef4c019e1d0460a4	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @DISEASE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+91a8825f54e924d95c4a1ce14f4a927cf70dcc69	The main features of the @DISEASE$ are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+f859a9eed4ef168ea449373b1d9a801f965fd811	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @DISEASE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+c04589aab68d5c4817f42dfeafdc1222f5286c46	The main features of the @DISEASE$ are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+b4516cdd84e098965bef7c2da4298c240ed4174b	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, @DISEASE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+98b0d49ca84d5312659322619f5731b510e1110c	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+4d780d45e4ba890de0647ef10599af9095e9d8da	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+21037d9600f224ca788b22c73418373ff05cb67d	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+11e94a3e7932073d011d19d4817e9421bab8688e	We present the cranial MRI findings in a 4-month-old girl with an atretic parietal cephalocele associated with multiple cerebral and ocular anomalies including lobar holoprosencephaly, a Dandy-Walker malformation, @PHENOTYPICFEATURE$, grey-matter heterotopia, extra-axial cysts in various locations, bilateral @DISEASE$ and a retroocular cyst.	has_symptom
+05206e703f79666a37525bce2501d845e6f48800	On autopsy she had thoracic hemivertebrae with rib defects, bilateral @DISEASE$, microcornea, posterior colobomata, abnormalities of the retinal pigment epithelium, absence of normal ganglion cells in the retina, gross asymmetry of the brain with cerebral polymicrogyria, total @PHENOTYPICFEATURE$, cerebral subcortical and subependymal nodular heterotopias, cerebellar nodular heterotopias, and tegmental/basal unilateral brainstem hypoplasia.	has_symptom
+d512e8b7b5cdc3a843ce46dc01996f842ec0be7b	On autopsy she had thoracic hemivertebrae with rib defects, bilateral microphthalmia, microcornea, posterior colobomata, @PHENOTYPICFEATURE$ pigment epithelium, absence of normal ganglion cells in the retina, gross asymmetry of the brain with cerebral polymicrogyria, total @DISEASE$, cerebral subcortical and subependymal nodular heterotopias, cerebellar nodular heterotopias, and tegmental/basal unilateral brainstem hypoplasia.	false
+1162661d146a124e526d16b9ce908e90c86f4f26	On autopsy she had thoracic hemivertebrae with rib defects, bilateral @DISEASE$, microcornea, posterior colobomata, @PHENOTYPICFEATURE$ pigment epithelium, absence of normal ganglion cells in the retina, gross asymmetry of the brain with cerebral polymicrogyria, total callosal agenesis, cerebral subcortical and subependymal nodular heterotopias, cerebellar nodular heterotopias, and tegmental/basal unilateral brainstem hypoplasia.	false
+38a2f8bd742334807bc7e6a1d86441335116aba3	Girls with MLS syndrome have @DISEASE$ with linear skin defects of face and neck, sclerocornea, @PHENOTYPICFEATURE$ and other brain anomalies.	has_symptom
+9d39b7f544cf632eef74d0bb7c82a76617864f7c	One girl also had unilateral @DISEASE$ and rostral @PHENOTYPICFEATURE$, a feature not previously described.	has_symptom
+45b34d5e0f8c729b5bb9d6909d59ba68d5dd7046	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @DISEASE$, cerebellar hypoplasia, @PHENOTYPICFEATURE$, polydactyly and skeletal dysplasia.	has_symptom
+47b1b4da56da322abbcb77141719883791a93185	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+21a88a9342ca7120163cb8bb836dd1f663133223	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly and skeletal dysplasia.	false
+fbb980871f1010ea5ed876866814ba6c6cb1082e	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @DISEASE$, polydactyly and @PHENOTYPICFEATURE$.	false
+cc241ea0a105aecaa7baeafcb50c30841cff62d2	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @DISEASE$, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+7062d221669111f16105bd3b46391706c440fed2	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @DISEASE$, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+def129ad0565df953077c71e4f94915cf72dcbf4	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @DISEASE$, cerebellar hypoplasia, corpus callosum agenesis, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+e2237394606c0a1c902331aaad2ecfdcf65fbc21	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+51b14f54035c10952b123cd13c0e129c0b30f2a5	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+e069caa98cfdc66f03df2becc7a3abbf5c7ce151	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+e462121d17d8db5e9df74eb2b9eaa8bcd0094807	@DISEASE$ with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by microphthalmia, aplastic skin and @PHENOTYPICFEATURE$, and is caused by the deletion of a 500 kb critical region in Xp22.3.	has_symptom
+faf6342c6fa5beb8248263dc567cf6c80a13bf22	Microphthalmia with linear skin defects (MLS) is an X-linked dominant, male-lethal @DISEASE$ characterized by @PHENOTYPICFEATURE$, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22.3.	false
+49da13c8bdd7579f6f1404565eb7a580f6006ba2	@DISEASE$ with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by @PHENOTYPICFEATURE$, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22.3.	false
+be81d8aaaff629f9d20aa4b321c051ba652436dc	Microphthalmia with linear skin defects (@DISEASE$) is an X-linked dominant, male-lethal syndrome characterized by @PHENOTYPICFEATURE$, aplastic skin and agenesis of the corpus callosum, and is caused by the deletion of a 500 kb critical region in Xp22.3.	false
+13e539fa7b10477d11e830d17a3df69944102593	Microphthalmia with linear skin defects (MLS) is an X-linked dominant, male-lethal syndrome characterized by @PHENOTYPICFEATURE$, aplastic skin and @DISEASE$, and is caused by the deletion of a 500 kb critical region in Xp22.3.	false
+2a276b6fac3932121985d772744eba741f835cfd	She had left-sided cleft lip/palate, costovertebral defects, scoliosis, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+a11dc0f56373220aa6f9dea7d5e277983fdbe7e9	Screening for hypercortisolism is recommended for patients who present multiple and progressive clinical signs and symptoms, especially those who are considered to be more specific to @DISEASE$, abnormal findings relative to age (e.g., spinal @PHENOTYPICFEATURE$ and high blood pressure in young patients), weight gain associated with reduced growth rate in the pediatric population and for those with adrenal incidentalomas.	has_symptom
+7b27b4dd26132042b31c859733c94950571149a9	The most frequent causes of secondary osteoporosis included @DISEASE$, pregnancy @PHENOTYPICFEATURE$, and osteogenesis imperfecta.	has_symptom
+b2e4b068c53f262d9a28fe8d0c0317834e2cc22a	early onset @PHENOTYPICFEATURE$ or hypertension), patients with features more specific to @DISEASE$ (i.e.	has_symptom
+2c71a8994dd9438d9c640a8e213cc62bbc464efe	Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, @PHENOTYPICFEATURE$, X-linked ichthyosis, and @DISEASE$.	has_symptom
+eb0fc7e1b27a205b87ba81c8826a1b35513daf6c	The 7 previously reported patients with @DISEASE$ and cardiac abnormalities were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were @PHENOTYPICFEATURE$ (4/4).	has_symptom
+415473eb4aded18dc333547e899684105bc32ef3	The 7 previously reported patients with Kallmann syndrome and cardiac abnormalities were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of @DISEASE$ (6/6), and were @PHENOTYPICFEATURE$ (4/4).	has_symptom
+f8fc6143d01ba5e985421bfaa51a8bc537dd15bc	The 7 previously reported patients with Kallmann syndrome and @PHENOTYPICFEATURE$ were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of @DISEASE$ (6/6), and were mentally retarded (4/4).	false
+d0ea37a65b7bde6d4f0671bfa243776ddde081f9	The 7 previously reported patients with @DISEASE$ and @PHENOTYPICFEATURE$ were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were mentally retarded (4/4).	false
+fdf0ae7fdbd6a20e892f2c26ebdc444cbe496751	The 7 previously reported patients with Kallmann syndrome and @PHENOTYPICFEATURE$ were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were @DISEASE$ (4/4).	false
+317ff07ec2d79a4129544e35bcfc803083fa20a8	Five CpG islands have been positioned around the STS locus and may be associated with other loci in the region involved in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+48afc024c0572af1647a6ac2249c71800ebbcf32	Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), @PHENOTYPICFEATURE$ (MRX49 locus), ichthyosis (STS), @DISEASE$ (KAL1) and ocular albinism (OA1), according to the size of the deletion.	has_symptom
+9ceb97fe45bccdef4d974feb1d4255d60fc1149f	Xp22.3 deletion in males can be associated with @PHENOTYPICFEATURE$ (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), @DISEASE$ (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+f9489195d21d1dfdcafd91f3c4eb41708e8ac797	Xp22.3 deletion in males can be associated with @PHENOTYPICFEATURE$ (SHOX), chondrodysplasia punctata (ARSE), @DISEASE$ (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+c740e971b94c271e0ba581ba71dfeac7b25e6267	Xp22.3 deletion in males can be associated with @PHENOTYPICFEATURE$ (SHOX), @DISEASE$ (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+bbc63fd46502d53bdbd9a815246668d0711f90e4	Xp22.3 deletion in males can be associated with @PHENOTYPICFEATURE$ (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), @DISEASE$ (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+62f4fe3e0f200f548cf5f8491864f992356fd68b	Xp22.3 deletion in males can be associated with @PHENOTYPICFEATURE$ (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (@DISEASE$), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+8d9412e020a1a899217e62ece65fa9f61cd1d88c	@DISEASE$ (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of @PHENOTYPICFEATURE$ and several somatic anomalies.	has_symptom
+34ddec2a633b1a3c68c9544b0f2f4b5856b43114	@DISEASE$ (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic @PHENOTYPICFEATURE$ and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies.	false
+70c5b57aa3fc82976c0794566f98ce19091ddb0b	@DISEASE$ (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and @PHENOTYPICFEATURE$/hyposmia, a variable degree of intellectual disability and several somatic anomalies.	false
+baa924d29b65c7f7a0435d03ad90a1d5e43f1a6b	Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic @PHENOTYPICFEATURE$ and anosmia/hyposmia, a variable degree of @DISEASE$ and several somatic anomalies.	false
+f9ca0486f99440e62c5d4c4b88fbc0e9a7be27fa	Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and @PHENOTYPICFEATURE$/hyposmia, a variable degree of @DISEASE$ and several somatic anomalies.	false
+f889cefe8ab77019a4a542a2baec9181982298f0	Males with deletions of or within Xp22.3-pter display variable contiguous gene syndromes including manifestations of L?ri-Weill syndrome, chondrodysplasia punctata, @PHENOTYPICFEATURE$, ichthyosis, @DISEASE$, and ocular albinism.	has_symptom
+16afe579874746c2df6657287e593763d185412e	We present the case of a male patient with @DISEASE$ (KS), X-linked ichthyosis (XLI) and X-linked @PHENOTYPICFEATURE$ (MRX).	has_symptom
+51a5b31286927354bf21bdfba9be7826b11ddcc5	Short stature, chondrodysplasia punctata, @PHENOTYPICFEATURE$, steroid sulfatase deficiency, and @DISEASE$ have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	has_symptom
+5508a5e99cf493681eb1a0467301bc32fcf00f26	@PHENOTYPICFEATURE$, chondrodysplasia punctata, @DISEASE$, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+007f3a8b342436f47ca02d1e75c81a4a738c85e1	@PHENOTYPICFEATURE$, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and @DISEASE$ have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+b39ff40e02a60f358e62d2bcc6bf44663a6e5110	@PHENOTYPICFEATURE$, @DISEASE$, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+d8d7b6e38904ea35a99327e5aab5e086178c2c57	@PHENOTYPICFEATURE$, chondrodysplasia punctata, mental retardation, @DISEASE$, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+40caa4023e6003784c75e9c39e3c64bd020ac8c4	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, @DISEASE$, ocular albinism, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+2b4f7dd9f8583cd45921426fe625edbbf1f775fd	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7f002e68baeafbc82497ec0e57ce403fc843d942	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as @DISEASE$, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, @PHENOTYPICFEATURE$, and mental retardation.	false
+5c84acb455ee230bd92b5b0f24e156cfccc51222	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, @DISEASE$, hypogonadotropic hypogonadism with anosmia, ocular albinism, @PHENOTYPICFEATURE$, and mental retardation.	false
+c7413b57b988c4af5ddf6306afe2c91b611ccd1e	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, @DISEASE$, ocular albinism, @PHENOTYPICFEATURE$, and mental retardation.	false
+1c2055d73f197c5a0db0145639acf479f28bd603	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), @PHENOTYPICFEATURE$ (MRX), ichthyosis (XLI), and @DISEASE$ (KAL).	has_symptom
+d685324fedd389c9c4cf1056b3beb270c417a207	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), chondrodysplasia punctata (CDPX), @DISEASE$ (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL).	false
+8d1526ac56602cf6ba27482d8a09c9492fb3b8b0	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (@DISEASE$), and Kallmann syndrome (KAL).	false
+2fb12ef8cfc74220c79cc501839cb3edd6cfa6ac	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), @DISEASE$ (XLI), and Kallmann syndrome (KAL).	false
+88de3b2ddd88e6938b648c77fd76170b9a7b80bd	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and @DISEASE$ (KAL).	false
+0f2dba3da999a328cae2824fe2a1dbea1ebf47b7	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), @DISEASE$ (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL).	false
+a179862439c8c1da3781bb042fb124fb03d08b31	@PHENOTYPICFEATURE$ was relieved and survival was prolonged in advanced @DISEASE$ cases treated with 125I particle-coated esophageal stents.	has_symptom
+52c32b7bddcba90965c7abf7e24456da8a91b914	Sems (self expanding metal stents) in palliation of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+b855214684e1edb3b8d85cd6fe56e3729a0b6891	@PHENOTYPICFEATURE$ was the most frequent symptom among patients with @DISEASE$ at the time of presentation, seen in 77 (84.8%) of cases.	has_symptom
+a6de0fe675e8bcc1e374067815d175d0ad763fba	@PHENOTYPICFEATURE$ alone or with unintentional weight loss is the most common presenting symptom, although @DISEASE$ is often asymptomatic in early stages.	has_symptom
+8384bb89044726c2693c55f57e8ea99377851592	Placement of FCSEMSs in patients with locally advanced @DISEASE$ significantly improves @PHENOTYPICFEATURE$ and allows for oral nutrition during neoadjuvant therapy.	has_symptom
+6e32ea86189258c7aef7539dd9007058e70615aa	Placemet of self-expandable metallic stents in patients with advance @DISEASE$ improves @PHENOTYPICFEATURE$ and occludes tracheoesophageal fistulas.	has_symptom
+52be039fa59e642b5fa56a7430f4023baa14d31f	Progressive @PHENOTYPICFEATURE$ is the most common presenting symptom of @DISEASE$ but also may occur as a side effect of treatment.	has_symptom
+24ff4dc47309fd9bf2bd9198723d6c66b01dce04	Endoscopic placement of fully covered self-expanding metal stents (FCSEMS) to treat malignant dysphagia in patients with @DISEASE$ significantly improves @PHENOTYPICFEATURE$; however, these stents have a high migration rate.	has_symptom
+1005ae901e7b1f050fc9884773bd197327e002ee	Placement of stents in patients with locally advanced @DISEASE$ significantly improves @PHENOTYPICFEATURE$ and allows for oral nutrition during neoadjuvant therapy.	has_symptom
+47dcca1835ba7c9ab494e2d40c26e027e189c03f	@DISEASE$ is an autosomal recessive disease characterized by progressive ophthalmoplegia, @PHENOTYPICFEATURE$, mitochondrial abnormalities and gastrointestinal involvement.	has_symptom
+39c59685fa41857f9a79896b43d4ce47b0949b17	@DISEASE$ (MNGIE) is characterized by leukoencephalopathy, @PHENOTYPICFEATURE$, ptosis, ophthalmoplegia, and gastrointestinal dysmotility.	has_symptom
+c07508da50bdd7876bc359c7c5b875041525ca5c	Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by leukoencephalopathy, @DISEASE$, @PHENOTYPICFEATURE$, ophthalmoplegia, and gastrointestinal dysmotility.	false
+f4432aa4c8c5c3dd57b6868d6a53c99c38fb59ad	@DISEASE$ (MNGIE) is characterized by leukoencephalopathy, peripheral neuropathy, @PHENOTYPICFEATURE$, ophthalmoplegia, and gastrointestinal dysmotility.	false
+e041b4c6f28018d6c24b17031a4ee58d32fe092b	@DISEASE$ (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, and leukoencephalopathy.	has_symptom
+c8e800c6a3681fb7d60c908c33a220cf48e3b77b	@DISEASE$ (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.	false
+c535f3a7a43631351cdd9d96bd06bd400ba3d2d3	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, gastrointestinal dysmotility, cachexia, @DISEASE$, and leukoencephalopathy.	false
+df57dfec1027aa6ec7cd004b15e201f1598f4468	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, PEO and/or ptosis, @PHENOTYPICFEATURE$, and leukoencephalopathy.	has_symptom
+70677353fe4b7b7feb1816ef66201440a6ec11a8	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, PEO and/or @PHENOTYPICFEATURE$, peripheral neuropathy, and leukoencephalopathy.	false
+b00a18149da290f8969af94b5596f927880ce477	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, PEO and/or @PHENOTYPICFEATURE$, @DISEASE$, and leukoencephalopathy.	false
+40c745d9243179d7a4d0e5fca8732ac0006bc455	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, @PHENOTYPICFEATURE$ and leukoencephalopathy.	has_symptom
+f90d24dcd60e9baecef25cb16ed27e49084e0453	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, peripheral neuropathy and leukoencephalopathy.	false
+e8569c6df42367d35aa7634effc766146cd67e38	Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, @DISEASE$ and leukoencephalopathy.	false
+7b570362cb37566edcc2193b58294322a5420d82	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, @PHENOTYPICFEATURE$ and leukoencephalopathy.	has_symptom
+419d3d10a18a5f92e96af51051b0a4fe29be7986	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy.	false
+bad51cdd63e84271ff9cc7ad38bd06f7cf17c39c	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, ophthalmoparesis, @DISEASE$ and leukoencephalopathy.	false
+17f022c1a6a2fe7629acda8508a6e72397ec685a	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by ptosis and progressive external ophthalmoplegia, @PHENOTYPICFEATURE$, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy.	has_symptom
+24377065567d0a3ac386d9e8e32c2cdb05474eb9	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and progressive external ophthalmoplegia, @DISEASE$, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy.	false
+7fc7d401c5bb028f59831d04a4886581d3e5401f	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and progressive external ophthalmoplegia, peripheral neuropathy, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy.	false
+5c19faa9d4457b808b9cf4664bb8e867d591d3c6	Finally, TYMP mutations have been associated with @DISEASE$ (MNGIE) disease that typically presents before the age of 20?years with progressive gastrointestinal dysmotility and @PHENOTYPICFEATURE$.	has_symptom
+b0ace2be88865359824e181342118bfc2dad4325	@DISEASE$ is a rare autosomal recessive disorder characterized by severe muscle wasting, gastrointestinal dysmotility, leukoencephalopathy, @PHENOTYPICFEATURE$, and ophthalmoplegia.	has_symptom
+826e5294704bd2d0f97179e9e576be9050a91a39	@DISEASE$ is a rare, multisystem disorder characterized by gastrointestinal dysmotility, ptosis, neurologic findings (e.g., @PHENOTYPICFEATURE$), leukoencephalopathy, and thin body habitus.	has_symptom
+6247933b21d1e492a376c97e7cce6bc928b8bc7c	@DISEASE$ is a rare, multisystem disorder characterized by gastrointestinal dysmotility, @PHENOTYPICFEATURE$, neurologic findings (e.g., peripheral neuropathy), leukoencephalopathy, and thin body habitus.	false
+eecbf47d8b52ccba4e4785ef318830d014509d93	Mitochondrial neurogastrointestinal encephalomyopathy is a rare, multisystem disorder characterized by gastrointestinal dysmotility, @PHENOTYPICFEATURE$, neurologic findings (e.g., @DISEASE$), leukoencephalopathy, and thin body habitus.	false
+83fa71895d4bbb160c10f22cf8af87db3a1e8ef8	Mitochondrial neurogastrointestinal encephalomyopathy is a rare, @DISEASE$ characterized by gastrointestinal dysmotility, @PHENOTYPICFEATURE$, neurologic findings (e.g., peripheral neuropathy), leukoencephalopathy, and thin body habitus.	false
+447fd48ebbc374f2bab4b4bece6bb8b731386a0f	The @DISEASE$ and rarer microangiopathic hemolytic anemias (e.g., thrombotic thrombocytopenic purpura) can be differentiated on the basis of their main clinical features, such as hypertension/proteinuria and upper @PHENOTYPICFEATURE$, the severity of hemolysis and thrombocytopenia, the degree of transaminase elevation, and the rapidity of postpartum remission of the clinical and laboratory findings.	has_symptom
+9d9a4bbd732f364018b13e5223cf411a0a07f771	In pregnant women with @DISEASE$ and acute onset @PHENOTYPICFEATURE$, a potential spontaneous hepatic rupture should be taken into consideration.	has_symptom
+16f10a0ac27009b9a9c8e9d68b01fcd62254df4b	We report a patient with history of @DISEASE$ who presented with upper @PHENOTYPICFEATURE$, hypotension, elevated hepatic transaminase levels, and a visibly enlarging right costal margin mass at 33 weeks' gestation.	has_symptom
+b74d9ff3d307f40d50bc52b78aeb24fd9e838be6	Most affected males show @PHENOTYPICFEATURE$ and macro-orchidism, which are typical signs of the @DISEASE$, but have been tested cytogenetically and by analysis of the FMR1 gene and do not have this syndrome.	has_symptom
+bc5d31ec164cd76a1fbe242fd9416df19c0c1291	On examination, he had @PHENOTYPICFEATURE$ and mild macroorchidism but few of the other typical physical findings of males with @DISEASE$.	has_symptom
+2d2384c25032f0217893658318345d92df9b3f86	X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, @PHENOTYPICFEATURE$ and other features attributable to @DISEASE$.	has_symptom
+e7197366dd95547ef1750d17951b81f2cf73895a	X-inactivation was random in all patients, yet they presented with ID/DD as well as @PHENOTYPICFEATURE$, @DISEASE$ and other features attributable to FXS.	false
+377e1455b6d4bf8fe167c67c20f5238a9f3ac3d1	X-inactivation was random in all patients, yet they presented with ID/DD as well as @PHENOTYPICFEATURE$, macrocephaly and other features attributable to @DISEASE$.	false
+bc2e0f0a456d2f15e05a003e361c2cefe98363aa	Results indicate that the common pattern of cheilognathopharyngeal disorders in @DISEASE$ is an isolated cleft palate or a high-arched palate with @PHENOTYPICFEATURE$.	has_symptom
+d7e3327f30ab5b3cf6720a768269f1ffde188d52	@DISEASE$ and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	has_symptom
+e9585cf0e4efbb6b78efe1ae88f5049ee6bcc520	@DISEASE$ and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, @PHENOTYPICFEATURE$, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	false
+ea13c16760e8edb3d65d57fb945b0dfcb57c6054	Warburg Micro syndrome 2 and @DISEASE$ are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, @PHENOTYPICFEATURE$, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	false
+e58408738a227c2ec7e35bb767f27ee278f12fae	Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, @DISEASE$, intellectual deficiency, @PHENOTYPICFEATURE$, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	false
+10b8005ed5668914efb5d89a52e3c63fe6202873	However, whether VGLUT3 is expressed normally in the cochleae of developing circling mice (homozygous (cir/cir) mice), the animal model for human @PHENOTYPICFEATURE$ type @DISEASE$, has not been established.	has_symptom
+d6ff511ef46949ba8b63029fdf4a1ca7360993d6	Therefore, the circling mouse is a potential animal model for @DISEASE$ @PHENOTYPICFEATURE$ in humans.	has_symptom
+cf1171c6d41f226b816f8fbf0426ccd877d1c76a	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with @DISEASE$ (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	has_symptom
+0dc0c807300a6472511b0bced96cd953dde68023	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/arthralgia and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+de77f538fcbd36e834c8561fd579587f09d4bf58	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/arthralgia and anti-RNP antibodies with @DISEASE$ (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+71f6020e49dd155acc22711045d63d29547cc837	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/@DISEASE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+a361cf9756faac203363c2477f1380117ac6577c	Here we describe a case that recently came to our attention of a girl suffering from @PHENOTYPICFEATURE$ caused by hypocalcaemia, in which the clinical diagnosis of @DISEASE$ and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis.	has_symptom
+e35eac6b6195e87d81d590693012206fdcaab5b6	Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild @DISEASE$-like features, @PHENOTYPICFEATURE$, and defective renal handling of uric acid.	has_symptom
+88e05defc70aca3e516e151a92a91745cdcc0fdc	We present a case of a 25-year-old woman with @DISEASE$ admitted with @PHENOTYPICFEATURE$, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c.524_530+3del).	has_symptom
+ac8bd86e2a1cc3f24efd9300b8a82f1fff147345	Human leukocyte antigen (HLA) gene typing showed DRB1*1501, an allele strongly associated with anti-GBM disease, and DRB1*0405, an independent risk factor for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+8f11447d7f62c209d69119a3afdc3b55799ef2d3	To evaluate whether changes in concentrations of soluble (s) E-selectin, sP-selectin, sL-selectin, intercellular adhesion molecule 1 (sICAM-1), and vascular cell adhesion molecule 1 (sVCAM-1) reflect disease activity in patients with @DISEASE$ and whether serum levels of these adhesion molecules are related to the degree of @PHENOTYPICFEATURE$ in patients with chronic renal failure (CRF).	has_symptom
+2941dc49206a8b7730182b74b332372aa65880f8	@DISEASE$ commonly affects the kidney producing proteinuria, hematuria and variable degrees of @PHENOTYPICFEATURE$.	has_symptom
+e14b17c83edadb6025c56e8b67595c3621cfd1af	The uncommon presentations of @DISEASE$ were a tumefactive subcutaneous mass in the thigh; prostatomegaly with obstructive uropathy and advanced @PHENOTYPICFEATURE$; and predominant gastrointestinal (GI) vasculitis with thrombocytopenia and coagulopathy at presentation.	has_symptom
+7cce77b9d3adf0c7f4a5951645aaf6d8bf182d45	A case of treated @DISEASE$ with recurrent @PHENOTYPICFEATURE$.	has_symptom
+0e6bd3729f543d6db18d30888a932b564d069df2	Older patients with @DISEASE$ and dialysis dependent @PHENOTYPICFEATURE$: a retrospective study.	has_symptom
+cb5901011055a1f1bff6a6bb4b88134193b3aea6	We report the clinical case of a 67-year-old woman who presented with @DISEASE$ involving the upper respiratory tract and @PHENOTYPICFEATURE$ with the need for hemodialysis treatment.	has_symptom
+468771d9f401ac41d5fa3ea87ed8af9bbc81aa60	We report a 15-year-old girl who presented with @PHENOTYPICFEATURE$ requiring dialysis and a diagnosis of p-@DISEASE$.	has_symptom
+d8ec3c4872ee5e444f80532da178777b11faf726	Since the early diagnosis and treatment of @DISEASE$ is a key to prevent @PHENOTYPICFEATURE$, it is encouraged to measure the serum ANCA titer for not only the diagnosis of such patients but the evaluation of their clinical course.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+27502572c519e8f91639099d59a6fe43cfe18d87	Case report of application of Ponseti method in treatment of neglected congenital @PHENOTYPICFEATURE$ in boy with @DISEASE$ who was 4 years and 9 months of age at the beginning of the treatment.	has_symptom
+491a5fee9e472a88e97067b905915f05294126de	[Application of Ponseti method in case of neglected @PHENOTYPICFEATURE$ in 4 years and 9 months old boy with @DISEASE$--case report].	has_symptom
+cf79800f2bdbed5dc3939cc48622bb98857cdaa0	Connexin31 (GJB3) has been associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e68310cfea88339a7ba8f3fc4c09f0638e80e952	Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive @PHENOTYPICFEATURE$ and in patients with @DISEASE$.	has_symptom
+1a292985e50dc9904c82598e35b05d3260def58e	Mutations in connexin 31 (Cx31) are associated with @DISEASE$ (EKV), @PHENOTYPICFEATURE$ and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown.	has_symptom
+7e66e7da1f6d44699844df4ddeac0b6ec88d856b	Mutations in connexin 31 (Cx31) are associated with @DISEASE$ (EKV), hearing impairment and @PHENOTYPICFEATURE$; however, the pathological mechanism of Cx31 mutants remains unknown.	false
+c3e3d13b829b8da67faf788fea7fe4f207af904a	Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), @DISEASE$ and @PHENOTYPICFEATURE$; however, the pathological mechanism of Cx31 mutants remains unknown.	false
+7729cd435883a6f61624fdb1aeff1c08bada8bcd	Mutations in the human GJB3 gene that codes for Connexin31 (Cx31), a protein subunit of gap junction channels, have recently been reported to cause @PHENOTYPICFEATURE$ and the skin disorder @DISEASE$.	has_symptom
+81d302a9c7ccf66561b0d8ec1a4df3c94155b104	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	has_symptom
+5cf60d166db5f58b4935d435a3eea7813c3e3402	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+2a32d694dfc4199095bd2a7aae9ad540c9d20120	Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, @DISEASE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @PHENOTYPICFEATURE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+95f84dee1d6b5ef9b383af77b79ed8914f43fef8	Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, @DISEASE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+7123e02e5a2a72f611270b871983ce01dced8119	Clinical features of @DISEASE$ include craniofacial anomalies (@PHENOTYPICFEATURE$, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+f31dd2ac23ede045b73af4e786ef7d92cf73c142	Clinical features of 3C syndrome include craniofacial anomalies (@PHENOTYPICFEATURE$, prominent forehead and occiput, foramina parietalia, @DISEASE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+0aa1dcdb19722efd98624ffdb9b49b1e5273333f	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @PHENOTYPICFEATURE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+f809720b0164ae9cf6e02a4f35cf2005f27f9c18	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	has_symptom
+e4821a1c460504a5bc87bea51a20f3ca29a81aa1	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @DISEASE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+23bbea2f5233ea0e4ea8bf93ebdfce8450a1ebc9	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @DISEASE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+cca59274844fbb1671e420bbbba72ce9b5bf708a	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+902dfa19daa06f530fd4f14b6ba8171386c8d756	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @PHENOTYPICFEATURE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @DISEASE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+7add69157a5a99bfdf650290d7cb884730f7a933	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+8a11217884f4a3e5c34bb25f1263ed974e34b805	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @PHENOTYPICFEATURE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7d6955f42d425ac9a1c5874a2c0c06b399790a92	@DISEASE$ (CCD) is a congenital autosomal dominant skeletal disease characterized by multiple craniofacial and @PHENOTYPICFEATURE$.	has_symptom
+deb51f42ebe09ad942b626b7fc845f489d36db19	Complex @PHENOTYPICFEATURE$ in a belatedly diagnosed @DISEASE$ patient.	has_symptom
+40394c68b751d42b1cc71ba6423632d97742c154	In humans, Runx2 haploinsufficiency results in @DISEASE$, a skeletal disorder characterized by bone and @PHENOTYPICFEATURE$.	has_symptom
+4921d2e3b98d0951e8fdfa40889cb9b8d74bd9a4	@DISEASE$ (CCD) is an autosomal dominant skeletal disorder characterized by clavicular, pelvic and @PHENOTYPICFEATURE$.	has_symptom
+a75366c85660891cc6d62eed61e6b6201230432d	@DISEASE$ (CCD) is a heritable generalized bone dysplasia presenting with a variety of @PHENOTYPICFEATURE$.	has_symptom
+0f9cacbce148d22c4d55ca150d8f18a7a6db0c8a	@DISEASE$ (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and @PHENOTYPICFEATURE$.	has_symptom
+ee8f483bc957a8355614abf1b34e8f65cc3b2b26	Cleidocranial dysplasia (CCD) is an autosomal dominant @PHENOTYPICFEATURE$ associated with cranial, clavicular, and @DISEASE$.	false
+941da7929a0b65372e53ce7edd644c100e4c7169	@DISEASE$ (CCD) is an autosomal dominant @PHENOTYPICFEATURE$ associated with cranial, clavicular, and dental anomalies.	false
+b828c6eee8c8e94dd994db959b274e8de54de61d	@DISEASE$ (CCD) is a rare hereditary disorder characterized by skeletal malformations and @PHENOTYPICFEATURE$.	has_symptom
+abc033511991ddd521392fe516d045bdc014fad7	@DISEASE$ (CCD) is a rare congenital disorder characterized by skeletal and @PHENOTYPICFEATURE$.	has_symptom
+84090e705e6f1e638a6b8e124a9f101e263493e4	@DISEASE$ is a syndrome defined by some workers as "osteodental" insofar as it presents with variously associated skeletal and @PHENOTYPICFEATURE$.	has_symptom
+762c67f416d987191d961e061451d11a3d8f998a	Patients with @DISEASE$ or patients in the overlap group developed more often @PHENOTYPICFEATURE$ (GTCS) (p<0.001) and myoclonic attacks (p<0.05) during the course of the disease.	has_symptom
+ed32eb6cd6343ee4097901bfc722f56666557f62	Patients with JAE or patients in the overlap group developed more often @DISEASE$ (GTCS) (p<0.001) and @PHENOTYPICFEATURE$ attacks (p<0.05) during the course of the disease.	false
+06d336cf6de77f02d2166046ec12d50362078cb9	Patients with @DISEASE$ or patients in the overlap group developed more often generalized tonic clonic seizures (GTCS) (p<0.001) and @PHENOTYPICFEATURE$ attacks (p<0.05) during the course of the disease.	false
+d33749dd2e4b502ec0a44d6ae6b6152e57037f3f	Our results indicate that the outcome of patients with @DISEASE$ is less favorable than children with childhood absence epilepsy and that the presence of @PHENOTYPICFEATURE$ is a predictor for poorer outcome.	has_symptom
+c004a2a8d05f05d80053de1bf1a6e1d27a50f9a4	Therefore, this study aimed to compare long-term seizure outcome in @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @PHENOTYPICFEATURE$ alone (EGTCS).	has_symptom
+f5b1153ca6ddabc7c1b17ef7af046cfc004b3382	Therefore, this study aimed to compare long-term seizure outcome in @DISEASE$ (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS).	false
+8b97da707bdf3ec05a9107481f130a2ae4fe584f	Therefore, this study aimed to compare long-term seizure outcome in juvenile absence epilepsy (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with @DISEASE$ alone (EGTCS).	false
+8bf639139c26dd7bd066cf5b83494e2bd87388fa	Therefore, this study aimed to compare long-term @PHENOTYPICFEATURE$ outcome in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @DISEASE$ alone (EGTCS).	false
+6f612bb47b076cee83d1c0d8f2fa3460dd932274	Therefore, this study aimed to compare long-term @PHENOTYPICFEATURE$ outcome in @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS).	false
+66d272dbe98b49df0cf6b8994ef52262040edfbf	An association was found between the G allele of rs7588807 located in the INHA gene and @DISEASE$ (JAE) syndrome and patients having @PHENOTYPICFEATURE$ (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons).	has_symptom
+34463478c2eddb1607500d32179427d8e0387314	An association was found between the G allele of rs7588807 located in the INHA gene and juvenile absence epilepsy (@DISEASE$) syndrome and patients having @PHENOTYPICFEATURE$ (GTCS) with p-values of 0.003 and 0.0002, respectively (uncorrected for multiple comparisons).	has_symptom
+ba29be1cebd26fd5e52e3a13b72498dbf989a6be	An association analysis at 2q36 reveals a new candidate susceptibility gene for @DISEASE$ and/or absence seizures associated with @PHENOTYPICFEATURE$.	has_symptom
+d68add87d6cd286b73a3b789975544bcab42976c	An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+b15bcc320e8854e5af98a438ec4fbeecc88c1e8c	An association analysis at 2q36 reveals a new candidate susceptibility gene for @DISEASE$ and/or @PHENOTYPICFEATURE$ associated with generalized tonic-clonic seizures.	false
+3966b662b5679d2df0675a38a46f5389c1886325	The IGEs included juvenile myoclonic epilepsy (JME), @DISEASE$ (JAE), and epilepsy with @PHENOTYPICFEATURE$ (EGTCS).	has_symptom
+81c676cf3f00524d51d1af375eb8b52a6dcafdf5	The IGEs included juvenile @PHENOTYPICFEATURE$ epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with @DISEASE$ (EGTCS).	false
+4177efa7aeebd1d94dbdab7f8611449601776565	The IGEs included juvenile @PHENOTYPICFEATURE$ epilepsy (JME), @DISEASE$ (JAE), and epilepsy with generalized tonic clonic seizures (EGTCS).	false
+96dedc16ce646a71c218772c51ae5374bddd4cc9	No relation was found with early childhood syndromes of generalised epilepsy, or @PHENOTYPICFEATURE$ in the evening, or, most remarkably, with @DISEASE$.	has_symptom
+e24e67396c5015936e62e2440ffe8e5f3d5db3f0	This study included patients with juvenile myoclonic epilepsy, @DISEASE$, and epilepsy with @PHENOTYPICFEATURE$ alone.	has_symptom
+fedf53dae98641ed581516e5c21e5fd58e84d81e	This study included patients with juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, and epilepsy with generalized tonic-clonic seizures alone.	false
+6af8d7325066f3d8eb20ce08eb9958f84756ae86	This study included patients with juvenile @PHENOTYPICFEATURE$ epilepsy, juvenile absence epilepsy, and epilepsy with @DISEASE$ alone.	false
+268fcced0290a8ac2bd3b4d0a205e6e1bae04771	Data are lacking on efficacy in new-onset @PHENOTYPICFEATURE$, juvenile myoclonic epilepsy, or @DISEASE$, and on efficacy of third-generation AEDs in new-onset epilepsy.	has_symptom
+19aeeb90abc18496156566c59b9c4a8d35015edf	Data are lacking on efficacy in new-onset @DISEASE$, juvenile @PHENOTYPICFEATURE$ epilepsy, or juvenile absence epilepsy, and on efficacy of third-generation AEDs in new-onset epilepsy.	false
+9909c5e2dd3d5a5e249a5a92a23f2be9ab3511da	Data are lacking on efficacy in new-onset generalized tonic-clonic seizures, juvenile @PHENOTYPICFEATURE$ epilepsy, or @DISEASE$, and on efficacy of third-generation AEDs in new-onset epilepsy.	false
+f3fc62d180d4774396d96576ace36e60e8e8d5a4	Childhood absence epilepsy, @DISEASE$, juvenile myoclonic epilepsy, and idiopathic generalized epilepsy with @PHENOTYPICFEATURE$ alone are electroclinical syndromes typically associated with normal intellect and good response to antiseizure medications.	has_symptom
+f2a5501f21e10575500bbc5d635f4a578512e741	Childhood absence epilepsy, juvenile absence epilepsy, juvenile @PHENOTYPICFEATURE$ epilepsy, and idiopathic generalized epilepsy with @DISEASE$ alone are electroclinical syndromes typically associated with normal intellect and good response to antiseizure medications.	false
+f66accf5907d52698a229f9a17cc2fe9edd373ad	Childhood absence epilepsy, @DISEASE$, juvenile @PHENOTYPICFEATURE$ epilepsy, and idiopathic generalized epilepsy with generalized tonic-clonic seizures alone are electroclinical syndromes typically associated with normal intellect and good response to antiseizure medications.	false
+651cb626ea7b3acd53563587a5a5fbd92676062e	In addition to the typical findings of @DISEASE$, case 1 had atrial septal defect, @PHENOTYPICFEATURE$, intracranial widespread calcification and case 2 had bilateral macular cherry-red spot, persistent foramen ovale, increased blood level of C6 hexanoylcarnitine, cavum septum pellucidum vergae anomaly and cerebellar atrophy.	has_symptom
+71c752f02a3eb6b74a1ee62e7d5b95cc80f8e6ab	@PHENOTYPICFEATURE$ and/or parathyroid hyperplasia, medullary thyroid carcinoma (MTC), and pheochromocytomas compose the hallmarks of the @DISEASE$ (MEN 2A) syndrome.	has_symptom
+117b6ebf26c58873b71a1ae1885738f529f1967f	Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), @DISEASE$ (MEN2A), and the @PHENOTYPICFEATURE$-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases.	has_symptom
+0480169edc6af01a171f66581ec2344ffe0e1d76	Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the @DISEASE$-jaw @PHENOTYPICFEATURE$ (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases.	false
+1d354c0b89e48f858859674ffb7859487173527c	Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), @DISEASE$ (MEN2A), and the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases.	false
+9d44f7d2c553c8275109869eb6bd0eba85beea49	Familial syndromes of @DISEASE$, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases.	false
+bc9aba4a830b132e73978d287b5a36d88eaa9272	Familial syndromes of hyperparathyroidism, including @DISEASE$ (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases.	false
+d46a6507d4d883ad2812a464b11fb5a30862f0c8	Familial @DISEASE$ of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases.	false
+184ad57ca64b7cdfe67a650ba6306f122b1e465a	Syndrome of @DISEASE$, is a rare disturbance made by medullar carcinoma of the thyroid gland, pheochromacytoma and @PHENOTYPICFEATURE$.	has_symptom
+54c759dd45381cc771bc98eedf80c5b05a946eb7	@PHENOTYPICFEATURE$ onset at a young age is one feature in multiple endocrine neoplasia (MEN) type 1 and @DISEASE$ cancer syndromes.	has_symptom
+852b323768fe4b5b54adff168feea3c6ba00fa9f	@DISEASE$ (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary carcinoma of the thyroid, phaeochromocytoma and @PHENOTYPICFEATURE$.	has_symptom
+1faa7bd923709f105e9c58b214e9acb8c241972b	Gene mutations cause cerebrotendinous xanthomatosis (@DISEASE$), an autosomal recessive disorder, and may cause 25-hydroxyvitamin D deficiency and early-onset @PHENOTYPICFEATURE$ and fractures in affected patients.	has_symptom
+56cc6a39deb3ccd3ea021aca817c40fabb2d9983	Gene mutations cause @DISEASE$ (CTX), an autosomal recessive disorder, and may cause 25-hydroxyvitamin D deficiency and early-onset @PHENOTYPICFEATURE$ and fractures in affected patients.	has_symptom
+c0eefa0e36e561a6ba1942fd99f7799ff7a36fa4	We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, peripheral neuropathy and early @PHENOTYPICFEATURE$ can be suspicious for @DISEASE$ and lead diagnosis.	has_symptom
+cc7ef9fc0b5c30077268be91176035b0b032f3ab	We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, @PHENOTYPICFEATURE$ and early @DISEASE$ can be suspicious for CTX and lead diagnosis.	false
+11f2cff984bd7ca53f34b2bcb73b992a8085fc96	We suggest that, awareness of intention tremor and ataxic gait in addition to @PHENOTYPICFEATURE$, peripheral neuropathy and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	false
+0c21b9210b63f24752fa79ca28cfaa7fa55aa7f8	We suggest that, awareness of intention tremor and @PHENOTYPICFEATURE$ in addition to mental retardation, peripheral neuropathy and early @DISEASE$ can be suspicious for CTX and lead diagnosis.	false
+1eb7b269b08b6070fb8585055759b490f1650e17	We suggest that, awareness of intention tremor and ataxic gait in addition to @PHENOTYPICFEATURE$, peripheral neuropathy and early @DISEASE$ can be suspicious for CTX and lead diagnosis.	false
+3883783f2cd73bf1ba0a5fe0428cf983a479560c	We suggest that, awareness of intention tremor and @PHENOTYPICFEATURE$ in addition to mental retardation, peripheral neuropathy and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	false
+5ff8d444f86999e6af2b3f99f3f307cce1cf014e	We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, @PHENOTYPICFEATURE$ and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	false
+2e8984f576a8d11c7b25f78f46eeb6ef42ae1e96	@PHENOTYPICFEATURE$ was the most common presenting complaint in patients with CP angle @DISEASE$'s followed by headache and tinnitus.	has_symptom
+04da6eef317abd5e3f8c08117dd1f18b8ba5a8de	Hearing abnormality was the most common presenting complaint in patients with CP angle @DISEASE$'s followed by headache and @PHENOTYPICFEATURE$.	false
+a9ecf46b5470b35e9cdc439e70569ff673e47e8a	@DISEASE$ was the most common presenting complaint in patients with CP angle schwannoma's followed by headache and @PHENOTYPICFEATURE$.	false
+52674d81f9ef1c8adab30fa9ca9feda7564cf322	@DISEASE$ (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+8f1dd8e67d88e65972d14c671c2f1abd24ffdf05	Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+421f1652b5da71b12f2b5a00c6b866b408dbeab6	@DISEASE$ (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, mental retardation, and short stature.	false
+b38757220aa3ac1ba97e4977c2a8215dbc892ba6	@DISEASE$ (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, @PHENOTYPICFEATURE$, and short stature.	false
+54286f8f3c8526c89300908f9785c8ec3c69acf0	Rubinstein-Taybi syndrome (@DISEASE$) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, @PHENOTYPICFEATURE$, and short stature.	false
+5ff845871260ed927e77f4e81e99d76fe56a2078	Rubinstein-Taybi syndrome (@DISEASE$) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, mental retardation, and short stature.	false
+17b8092aaf8b1d29fda7b9f33d6cffb255fc141e	Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+43fba6e5e0692d83800675c7f35636bd98cf72de	@DISEASE$ (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+06d0d3d12eb3647876e7559b27d9699ae9c1bd2a	@DISEASE$ (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and @PHENOTYPICFEATURE$.	false
+993e6f43936da67d1c8e477121db591dea3cb83a	Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known @DISEASE$, characterized by broad thumbs and halluces, a characteristic facies, short stature, and @PHENOTYPICFEATURE$.	false
+d75409c5b359b8876e21686f6568ac2fee8ed42b	Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+414e1bf4a24de4ebc977e8fb4b6d82c40b24b175	@DISEASE$ (RTS) is characterized by typical facies, @PHENOTYPICFEATURE$, mental retardation, broad thumbs and broad great toes.	has_symptom
+a099aac4c2afce7039ecb926564057bc05d062b9	@DISEASE$ (RTS) is characterized by typical facies, short stature, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	false
+6793183da5c9838516b92f94f392c510e453b973	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by typical facies, short stature, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	false
+18fa0ab9e3ba6c4029fc38dedac8cc9819776f09	Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, @DISEASE$, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	false
+2c2311128be5d0b570cb1310c8e7f8a4213e2581	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+1091a259c6ae313c38ffa2485fb72d29393a1ab2	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+bf2e659808a627b447780d557bf2603cefc8f1a6	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, @PHENOTYPICFEATURE$, facial dysmorphism, @DISEASE$, and mental retardation.	false
+794305baa0d1add3ed7e0da3d76da9faebfae1d1	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and @PHENOTYPICFEATURE$.	false
+d479a148f6020466a12e671595668ab9b2d2dad7	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, @PHENOTYPICFEATURE$, facial dysmorphism, small stature, and mental retardation.	false
+ece0ed4940e6ecdf7b9d46fb3f6a2271f1a18565	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation.	false
+613f55bb4682116e3fb78edf076f559a204a7e09	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, @PHENOTYPICFEATURE$, small stature, and mental retardation.	false
+2438e2d0986e2a7f4c44328bc55639ccaa03e7ea	@DISEASE$ (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and @PHENOTYPICFEATURE$.	has_symptom
+898e7bd291c117d745823a1ed8bc2237e49bffb6	@DISEASE$ (RTS) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and short stature.	false
+db0e1214e192af1955c2a8ae39ace43cb3ce0fe5	Rubinstein-Taybi syndrome (@DISEASE$) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and short stature.	false
+c4286f69fdb3a2bcbafcbaccd1a1dc8d6f51b20c	Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and @DISEASE$.	false
+9f3ccb866f530560f2e55100a92a55d8bec21e99	@DISEASE$ (RSTS) is a distinct dominant disorder characterized by @PHENOTYPICFEATURE$, typical face, broad angulated thumbs and halluces, and mental retardation.	has_symptom
+234b30e49a452192c82dc7029a481b9a7ca4847a	Rubinstein-Taybi syndrome (RSTS) is a distinct dominant disorder characterized by @DISEASE$, typical face, broad angulated thumbs and halluces, and @PHENOTYPICFEATURE$.	false
+1be13ecb24643b6b1269e3f85e066190140c91a6	@DISEASE$ (RSTS) is a distinct dominant disorder characterized by short stature, typical face, broad angulated thumbs and halluces, and @PHENOTYPICFEATURE$.	false
+7a3d494725f9f2876cccd4d3c3834c8f4f28eee5	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, microcephaly, delayed milestones, beak nose, and hypertelorism.	has_symptom
+c32d86d93245edaf1b605fea84d779e72d4623e6	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and hypertelorism.	false
+42754adedd360422e283d26f3a7d1e58182d8b8f	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	false
+69da8eef4a046cdc3973bb7040fba842c8a5f6c7	Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, @DISEASE$, microcephaly, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	false
+b55a42acac0827f234d4347d9a2ad0afc80810d1	Rubinstein-Taybi syndrome is a rare @DISEASE$ characterized by broad thumbs and first toes, short stature, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and hypertelorism.	false
+5975ec39420632b1ba1f156d5ad0b4907b576169	Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, @DISEASE$, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and hypertelorism.	false
+b43b59d8cd6ac5a5c306911b75a940a21bf15113	Rubinstein-Taybi syndrome is a rare @DISEASE$ characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	false
+4ad2888d5f90f591eda396b0eeb7fff99636ffd4	Here we report on a 39-year-old woman with severe mental retardation, @PHENOTYPICFEATURE$, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the @DISEASE$.	has_symptom
+b19598a5a9b9180f19ec7b85ca0dc44d4bf498f0	Here we report on a 39-year-old woman with @PHENOTYPICFEATURE$, @DISEASE$, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the Rubinstein-Taybi syndrome.	false
+b450803c77314bd6d12bc4c199394a306c16fe10	Here we report on a 39-year-old woman with @PHENOTYPICFEATURE$, short stature, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the @DISEASE$.	false
+cd02a12c7ea8e637bcf30dc60273e18c94d88083	@DISEASE$ (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, @PHENOTYPICFEATURE$ and variable degree of intellectual disability.	has_symptom
+edf7d801f45848316cfdbe84736a5f83d8f6d0c9	Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, @DISEASE$ and variable degree of intellectual disability.	false
+ec1ce8ff53655fbf0de8403701f6a1fc5e012da8	Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant @DISEASE$ characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, short stature and variable degree of intellectual disability.	false
+974076b2a64ea9cdf2e5d629853ecfb6d5688c8a	@DISEASE$ (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, short stature and variable degree of intellectual disability.	false
+39e7f2e9d93df10cded970c86884e9034891acb2	@DISEASE$ (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, @PHENOTYPICFEATURE$, and intellectual disability.	has_symptom
+0c06514b11376025ca753b00198380b1baa42a33	Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, @DISEASE$, and intellectual disability.	false
+9867e1d090ea77dc7ee5bddaa66d9788101529af	@DISEASE$ (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, short stature, and intellectual disability.	false
+fe0a8f756daae3f97b929fae9a2b758aee81f642	Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5c96bf9968d6df387d5b2609afaf32d9ebfdfde8	@DISEASE$ (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and @PHENOTYPICFEATURE$.	false
+e1db284b29aa401fa6bfbf00df2391e51de928d7	Similarities are strongest between @DISEASE$, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with @PHENOTYPICFEATURE$ syndromes, and hydrolethalus syndrome.	has_symptom
+8030829da93ee0000542e1a44701b80fdce72b4f	Ick null mouse embryos displayed cleft palate, hydrocephalus, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	has_symptom
+ed9e117732ca39d61541fcf0d03bf8e598ab23c5	Ick null mouse embryos displayed cleft palate, @PHENOTYPICFEATURE$, polydactyly, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	false
+6db7018c5ad00af7f89641a86724670ae1887953	Ick null mouse embryos displayed @PHENOTYPICFEATURE$, hydrocephalus, @DISEASE$, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+fb6724346f172ed5af94ed82627f19318c9d4dc4	Ick null mouse embryos displayed cleft palate, hydrocephalus, polydactyly, and @PHENOTYPICFEATURE$, closely resembling @DISEASE$ phenotypes.	false
+51a74d94c1550ec4ac3cc669630a487adb2091f5	Ick null mouse embryos displayed cleft palate, @PHENOTYPICFEATURE$, @DISEASE$, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+5c2cc1aeba3bc666e7fcdaadb375e78819dbff6b	Ick null mouse embryos displayed cleft palate, hydrocephalus, @DISEASE$, and @PHENOTYPICFEATURE$, closely resembling ECO syndrome phenotypes.	false
+3f87650171add98e97449fdbf34a2faca4adc872	Ick null mouse embryos displayed @PHENOTYPICFEATURE$, hydrocephalus, polydactyly, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	false
+beef4d1e21ba9d2509522f23251cb2af5e959e17	@DISEASE$ in its classical form is a syndrome of several congenital abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+b165203fbff527a1805d95d2164c6e58f4dc1d70	@DISEASE$ (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and @PHENOTYPICFEATURE$.	has_symptom
+210f91ed6e99e3a62e15f8f7cb1474fb320cf72c	Cornelia de Lange syndrome (CdLS) (also referred to as @DISEASE$) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and @PHENOTYPICFEATURE$.	has_symptom
+fbef31a9a48c9226a18b4df71026447f8f762a6c	@DISEASE$ (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by @PHENOTYPICFEATURE$, upper limb deformities, and mental retardation.	false
+e017c5df599dfa6e32c8267c92049c1656f1992b	Cornelia de Lange syndrome (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by @PHENOTYPICFEATURE$, upper limb deformities, and @DISEASE$.	false
+6a3a8e8120529f59bba14e3354b3cef7021777f2	Cornelia de Lange syndrome (CdLS) (also referred to as @DISEASE$) constitutes a multisystem developmental anomaly which is characterized by @PHENOTYPICFEATURE$, upper limb deformities, and mental retardation.	false
+b60c87cd7a11c5de532bd663b697e3ddf7dc27f0	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical facial dysmorphism, growth and @PHENOTYPICFEATURE$, microcephaly, and various malformations.	has_symptom
+f01e7e1c7940735e3f7a4e7f19c14b16e640f77e	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and @PHENOTYPICFEATURE$, microcephaly, and various malformations.	has_symptom
+f1d58206c3a36c0b0d79529e0068bc0cde7524cf	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, @PHENOTYPICFEATURE$, and various malformations.	false
+5504b2a0d3d008c55f5837b47807c32a7fd372da	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+1ef7bcef28aa752b7f67ac77df921d6d567972e4	Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and @DISEASE$, microcephaly, and various malformations.	false
+2a005b9a1264184ebf3ac5c5501d738596da1028	Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and @DISEASE$, @PHENOTYPICFEATURE$, and various malformations.	false
+0b45421436e9010a4d19034e4364def2ae982dbd	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, @PHENOTYPICFEATURE$, and various malformations.	false
+98b8be5d6524b0160576d0ae62dc6024861711d5	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+1a7b32ccd63dcd9fd45d758698cb23df3afd4a1c	@DISEASE$ (CdLS) is a multisystem disorder characterized by somatic defects and @PHENOTYPICFEATURE$.	has_symptom
+c20193876601dc2f8d3a30b05a096f284d68520e	Dysfunction of cohesin in humans results in @DISEASE$ (CdLS), which is characterized by various developmental abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+04294239c14d18c23f90c1a4797c52c8a96afcc1	@DISEASE$ (CDLS) is characterized by multiple congenital malformations and @PHENOTYPICFEATURE$.	has_symptom
+4279f8e09ee36263e8d9a111fb5242006f6f72f5	@DISEASE$ is a relatively uncommon, multiple congenital anomaly / @PHENOTYPICFEATURE$ disorder of unknown etiology.	has_symptom
+a212247c888f8343b4e72c784f6a2858264a9a18	Classical @DISEASE$ presents with a striking face, pronounced growth and @PHENOTYPICFEATURE$, and variable limb deficiencies.	has_symptom
+3c4bf07d162cb871c6ce1a333b30c29b630dfe6e	The @DISEASE$ (Cornelia de Lange-syndrome) belongs to the group of well established multiple congenital anomalies/@PHENOTYPICFEATURE$ syndromes.	has_symptom
+f9e663f45f66c14066f5f9c2e65cd137b03fca5c	The Brachmann-de Lange-syndrome (@DISEASE$) belongs to the group of well established multiple congenital anomalies/@PHENOTYPICFEATURE$ syndromes.	has_symptom
+4d5b473fc2bcc703d42d1931849643bf5931aa55	@DISEASE$ involves anomalies in cardio-vascular and musculo-skeletal systems, and @PHENOTYPICFEATURE$.	has_symptom
+2d63460142a79daf816248ff8abd18fec4850da9	We present a 5?-year-old patient with normal growth, borderline normal IQ, borderline @PHENOTYPICFEATURE$, and speech and language delay who was found to have a submicroscopic 2.3?Mb terminal duplication involving the two proposed @DISEASE$ (WHS) critical regions at chromosome 4p16.3.	has_symptom
+34b5bee5014d23c5be44ceee8daa64ee9437c47a	We present a 5?-year-old patient with normal growth, borderline normal IQ, borderline hypertelorism, and @PHENOTYPICFEATURE$ who was found to have a submicroscopic 2.3?Mb terminal duplication involving the two proposed @DISEASE$ (WHS) critical regions at chromosome 4p16.3.	false
+74fd3f70f5b71a879c60b2832ba419c12a2c37e0	We present a 5?-year-old patient with normal growth, borderline normal IQ, borderline @DISEASE$, and @PHENOTYPICFEATURE$ who was found to have a submicroscopic 2.3?Mb terminal duplication involving the two proposed Wolf-Hirschhorn syndrome (WHS) critical regions at chromosome 4p16.3.	false
+7bd3d4fc0c367e46e161b78f549c2f3674f9dfa6	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, microcephaly, prominent glabella, @PHENOTYPICFEATURE$, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias.	has_symptom
+5d7fbe0bb97d94794e4463428e84e66fd70f5581	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and hypospadias.	false
+d533cb9368ee6d5d737fd003ab8134e17e7701dd	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+eae23b267f9717649ce00844c332aa75484cbdad	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, microcephaly, prominent glabella, @DISEASE$, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and hypospadias.	false
+4442712b03bad66bb71d589ef8b5a305dcc701ab	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, @PHENOTYPICFEATURE$, prominent glabella, @DISEASE$, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias.	false
+6d51f4c8a72a930359b37a7015e6f09cabc16f53	Further characteristic manifestations of the syndrome (also called Wolf or Wolf-Hirschhorn syndrome) are growth failure, @PHENOTYPICFEATURE$, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and @DISEASE$.	false
+dc51acbbc180cb1b2767adb5a0667ccb259e10d8	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, @PHENOTYPICFEATURE$, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and renal malformation and hypospadias.	false
+84c971519fec59c212266897ca0034483f6c886f	@DISEASE$ (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, @PHENOTYPICFEATURE$ and severe mental retardation.	has_symptom
+732fbf7a479f4470c4069b68d43968f9acdfbf24	@DISEASE$ (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and @PHENOTYPICFEATURE$.	false
+c24c0a9475e800b911062b58d028dd4257ba2265	Wolf-Hirschhorn syndrome (WHS) is associated with @PHENOTYPICFEATURE$ including high forehead, high nasal bridge, @DISEASE$ and severe mental retardation.	false
+8963ad0d287edab22103740cdd07c99772ad264a	Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+deb62ee509e30ce7c54980000f9b4a6f7d73839f	@DISEASE$ (WHS) is associated with @PHENOTYPICFEATURE$ including high forehead, high nasal bridge, hypertelorism and severe mental retardation.	false
+a7a26d77ee55f97a1e217df866c0efa1cd01c4be	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	has_symptom
+8861e000d2ef8abf68f551b911b159be1d60830c	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and seizures.	false
+48bb2ed646552739736fff15373ecfb0171d6b2b	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+ed7678d4bd8622e127c402d9a58e2f722c61a85a	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+a4773a4fe6ba7eeed163f76f83c417469c8a1871	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+ae96661ab27a9856bfb6b61707e14a7facccc25f	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, @DISEASE$ or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+ce2e58969e118a094cd90476f7563e6e0bc5a307	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @DISEASE$, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+788226557cd3c5b20e176eb64677dab14058e504	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+de11235b42d92fb881bf0d830d177933021f9c9d	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and seizures.	false
+6a73e433e35900a993cef07de930d196bf08866a	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+e236e782bda35868b831b92f752d8196e8bc48ed	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+f42e6c918717b61d3e87f60bc3600065983a833d	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or @DISEASE$, cardiac defects, growth and mental retardation and seizures.	false
+6917405d917be952e329f8c810f4a067a652257a	The @DISEASE$ (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+763111076b305e35ebb72e560aefbfa9b4c6c95f	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @DISEASE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and @PHENOTYPICFEATURE$.	false
+b18bb9a5d17e399aedb8267976ae6799287d8155	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, @PHENOTYPICFEATURE$, @DISEASE$ or palate, cardiac defects, growth and mental retardation and seizures.	false
+3fea5b994f75c7472abe0ec64f94c9b4bf68bf0c	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, @DISEASE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and @PHENOTYPICFEATURE$ and seizures.	false
+6ae68eb111ae73df7b8e35942af2aa9bb483e4ad	The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.	false
+1e3e3001a90247734c9e9994e2c1932e6c4d1562	The @DISEASE$ is a zoonotic disease transmitted by ticks and is characterized by @PHENOTYPICFEATURE$ and bleeding.	has_symptom
+a55c0e94503828c862f6f8fc106e004ca0eb6564	@DISEASE$ (CCHF) is an acute disease affecting multiple organ systems and is characterized by @PHENOTYPICFEATURE$ and haemorrhages.	has_symptom
+52a5e70df708f7a39214fef40df7f9956212a316	Specifically, seroprevalence of antigens for Brucella, @DISEASE$ (CCHF), Alkhurma haemorrhagic @PHENOTYPICFEATURE$ (AHF) and Rift Valley Fever (RVF) were determined, among the study participants.	has_symptom
+33be83534555d43672b19cbab413b0d1c6c78395	@DISEASE$ (CCHF) is a serious illness characterized by @PHENOTYPICFEATURE$ and hemorrhage.	has_symptom
+453813504e0827752f9c44d817cf8c25002268c1	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like @PHENOTYPICFEATURE$, myalgia, severe headache, nausea, vomiting, diarrhea, and abdominal pain.	has_symptom
+d6803a98fe6a9fafc69987c32800f7fa9686eef7	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like @DISEASE$, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, diarrhea, and abdominal pain.	false
+f96fb84c8a51c700f7402a4edd884b2b6b3b4b32	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, @DISEASE$, and abdominal pain.	false
+e32c10448989bb526ae1c3e818736a0edeb9e703	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, diarrhea, and abdominal pain.	false
+7e78fd12ff9b9f4f43e9e5747135a97cedc4edb1	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, vomiting, diarrhea, and @PHENOTYPICFEATURE$.	false
+40f7ba4a2d95f636d0a698ff18c01fb8059bd903	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like @DISEASE$, myalgia, severe headache, nausea, vomiting, diarrhea, and @PHENOTYPICFEATURE$.	false
+7ba066595ad3a8377b9d22f2886cad14758fa836	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, vomiting, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+163108764d3ef5b0ad6e66006edff2fb52c90407	VHFs that have the potential for human-to-human transmission and onset of large nosocomial outbreaks include @DISEASE$, Ebola haemorrhagic @PHENOTYPICFEATURE$, Marburg haemorrhagic fever and Lassa fever.	has_symptom
+9a749f6d76bc2192a76b6e4ff2d5bd5f9f1821df	: @DISEASE$ (CCHF), an illness characterized by @PHENOTYPICFEATURE$ and hemorrhage, is caused by a CCHF virus (CCHFV).	has_symptom
+b461c29a5b096748bafbe308c52a6ef38aa75855	@DISEASE$ (CCHF), characterized by @PHENOTYPICFEATURE$ and/or hemorrhage, is a zoonotic viral disease with high mortality.	has_symptom
+8862d0c13f7bef2d5904ca0ebdcf239945782ffe	@DISEASE$ (CCHF) is a tick-borne viral disease presenting with flu-like symptoms, @PHENOTYPICFEATURE$, hemorrhage and petechia.	has_symptom
+cb90674985a6147fd16dd6fb9930d062907e6e6a	Thus, physicians should be familiar with viral hemorrhagic fevers: filoviruses cause Ebola and Marburg @PHENOTYPICFEATURE$, arenaviruses cause Lassa fever and South American hemorrhagic fevers, and the bunyaviruses cause among others @DISEASE$.	has_symptom
+d1812d96015c95a39d56abf8e754cfc692f2425c	Subsequent anecdotal data support its efficacy for typical and atypical absences, @PHENOTYPICFEATURE$, tonic or clonic seizures, @DISEASE$ and infantile spasms.	has_symptom
+0ca7fc82d617b66959998d787e9ab4c144c2412a	In patients with @PHENOTYPICFEATURE$ epilepsies of early childhood and especially those with @DISEASE$ (LGS), the effect of VGB has been investigated only to a limited extent and the pattern of response was variable.	has_symptom
+0640e81feff989c6a48225470ec2c100beabbf93	In patients with @PHENOTYPICFEATURE$ epilepsies of early childhood and especially those with Lennox-Gastaut syndrome (@DISEASE$), the effect of VGB has been investigated only to a limited extent and the pattern of response was variable.	has_symptom
+87f2a6c4398447b72f69fb6cc0c8d725bcc20663	Two had juvenile @PHENOTYPICFEATURE$ epilepsy and 5 had @DISEASE$.	has_symptom
+2488c2f0ec57479aea24b88e4447913d32b9685b	@DISEASE$ was common, while progressive @PHENOTYPICFEATURE$ epilepsy was also, less frequently, reported.	has_symptom
+2dc3722bb561a460eec650dba4b667a0bc8e412c	In the group of cryptogenic and symptomatic generalized epilepsies we analyze epilepsy with myoclonic absences, myoclonic-static epilepsies, the myoclonic variant of the @DISEASE$, progressive @PHENOTYPICFEATURE$ epilepsies, adult familial myoclonic epilepsies and the myoclonic epilepsies of the elderly.	has_symptom
+34275e29740a79374bd48795aa32ee0c637529e6	In the group of cryptogenic and symptomatic generalized epilepsies we analyze epilepsy with myoclonic absences, myoclonic-static epilepsies, the @PHENOTYPICFEATURE$ variant of the @DISEASE$, progressive myoclonic epilepsies, adult familial myoclonic epilepsies and the myoclonic epilepsies of the elderly.	has_symptom
+3915fe2886456ea33030f44f1a2d767b8017353e	In the group of cryptogenic and symptomatic generalized epilepsies we analyze epilepsy with myoclonic absences, @PHENOTYPICFEATURE$-static epilepsies, the myoclonic variant of the @DISEASE$, progressive myoclonic epilepsies, adult familial myoclonic epilepsies and the myoclonic epilepsies of the elderly.	has_symptom
+a06c38b43dfeaa26b2699a366125864aa4c0800e	In the group of cryptogenic and symptomatic generalized epilepsies we analyze epilepsy with myoclonic absences, myoclonic-static epilepsies, the myoclonic variant of the @DISEASE$, progressive myoclonic epilepsies, adult familial myoclonic epilepsies and the @PHENOTYPICFEATURE$ epilepsies of the elderly.	has_symptom
+ae4e66bc104a0a4bc8cb7ebfbfff0dba7fca7195	In the group of cryptogenic and symptomatic generalized epilepsies we analyze epilepsy with myoclonic absences, myoclonic-static epilepsies, the myoclonic variant of the @DISEASE$, progressive myoclonic epilepsies, adult familial @PHENOTYPICFEATURE$ epilepsies and the myoclonic epilepsies of the elderly.	has_symptom
+f80cd93705b797c9a4cc3639f88280876e6183fa	Lastly, the @PHENOTYPICFEATURE$ variant of @DISEASE$ is discussed.	has_symptom
+dacaebceecde64deb639ecd4842363363ba64c0c	Levetiracetam also had promising effects in patients with juvenile @PHENOTYPICFEATURE$ epilepsy and @DISEASE$.	has_symptom
+b91445127a8f77e62b60141273850ba385ac51bb	Infantile spasms, @DISEASE$, and the progressive @PHENOTYPICFEATURE$ epilepsies are correlated with significant disability and a multiplicity of underlying etiologies.	has_symptom
+f97ffe4249bb1f53ad5c9bedfe4a0acc3ed12d90	The major catastrophic epileptic syndromes of childhood include infantile spasms, @DISEASE$, and the progressive @PHENOTYPICFEATURE$ epilepsies (PMEs).	has_symptom
+8dd258bedf90cb5b851f5c9015f34ffcae0e5d0f	A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile @PHENOTYPICFEATURE$ Epilepsy, West Syndrome, and @DISEASE$).	has_symptom
+44fd2294eb8643dede08241bf84ded7ce985a30e	@PHENOTYPICFEATURE$ and anencephaly are the most common, serious malformations in neural tube defects (@DISEASE$).	has_symptom
+770c39c784dafb167557022658c1e1263d7610a4	@PHENOTYPICFEATURE$ and anencephaly are the most common, serious malformations in @DISEASE$ (NTD).	has_symptom
+3ddf3b56354d2c2a48d66b0770ad87af511b85ba	@PHENOTYPICFEATURE$: the radiology of @DISEASE$.	has_symptom
+574555ffe8acdfaeb662093c53d01ee3b14f12a3	@DISEASE$ including @PHENOTYPICFEATURE$ are common and severe congenital disorders.	has_symptom
+1640def11f816838dc711a431e44ace71f3c2da6	The term neural tube defects (@DISEASE$) stands for anencephaly, iniencephaly, cephalocoele and @PHENOTYPICFEATURE$.	has_symptom
+cfa6aebd1cbf5ee3eca843e85e9a1dda3eff7477	The term @DISEASE$ (NTD) stands for anencephaly, iniencephaly, cephalocoele and @PHENOTYPICFEATURE$.	has_symptom
+16c9589453492ee1562f0a70b4454d515f847b34	[Problems with @DISEASE$ as a disease related to @PHENOTYPICFEATURE$].	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+292c505ffb01ce2a23541d31e37b134697892456	@PHENOTYPICFEATURE$, anencephaly, and encephalocele are commonly grouped together and termed @DISEASE$ (NTD).	has_symptom
+2fd916bcdbefdb6401ac9fb668024f8c0372c90f	@PHENOTYPICFEATURE$, anencephaly, and encephalocele are commonly grouped together and termed neural tube defects (@DISEASE$).	has_symptom
+08135a6bae06bb0c0cc4f5b7b265035757dd1967	@PHENOTYPICFEATURE$ is the most common form of @DISEASE$ (NTDs).	has_symptom
+d53a5b4fe57a383ef85b05b5b21e98f2fc095019	@PHENOTYPICFEATURE$ is one of the most common open @DISEASE$.	has_symptom
+cc660bdadf1929d9449e6d1698b89e9e10d882bd	@DISEASE$ (NTD) comprise of a group of congenital malformations that include @PHENOTYPICFEATURE$, anencephaly and encephalocele.	has_symptom
+bfd381c6a35126351b2a16f2b125e6a0b3dd031e	Neural tube defects (@DISEASE$) comprise of a group of congenital malformations that include @PHENOTYPICFEATURE$, anencephaly and encephalocele.	has_symptom
+8fe6ace7b94810d005860cf45b948d8b881ac7c5	Although @DISEASE$ (22q11DS) is associated with early-life @PHENOTYPICFEATURE$, affected individuals are also at high risk for the development of schizophrenia symptoms, including psychosis, later in life.	has_symptom
+c7fbcc0fdd86937cc26bdd96c5ac33419958ccac	Carvajal syndrome is a variant of @DISEASE$ characterized by a predominant left ventricular involvement, wooly or curly hair, and @PHENOTYPICFEATURE$ or similar skin disorders.	has_symptom
+03d89e2cc77da490096e34e55e339b038aa750f8	Loss-of-function mutation of Jup has been associated with @DISEASE$, which is characterized by arrhythmogenic cardiomyopathy and the cutaneous disorder @PHENOTYPICFEATURE$.	has_symptom
+8669dac1bf57c014a53eabd0b2869e9e4e1e907d	@DISEASE$ is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with @PHENOTYPICFEATURE$ and woolly hair.	has_symptom
+3d0d0c6a6738d7e63fdfdf7e8c70f65c182f8d03	@DISEASE$ is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and @PHENOTYPICFEATURE$.	has_symptom
+8669dac1bf57c014a53eabd0b2869e9e4e1e907d	@DISEASE$ is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with @PHENOTYPICFEATURE$ and woolly hair.	has_symptom
+b8046acff6e3230a0506e7e756350fbecfec66de	@DISEASE$ is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and @PHENOTYPICFEATURE$.	has_symptom
+a21bbf8e10ca01d7467a32cd8ad3cf9430c38258	@DISEASE$ is an autosomal recessive genodermatosis characterized by @PHENOTYPICFEATURE$, woolly hair and cardiomyopathy.	has_symptom
+b0364133ebe326b0e4ce16482529c3e7e6bc88ff	@DISEASE$ is a recessively inherited stereotype association of arrhythmogenic cardiomyopathy with a cutaneous phenotype, characterized by peculiar woolly hair and @PHENOTYPICFEATURE$.	has_symptom
+259197b9103439fcc2afbe2ef0954c2bf5bc793f	@DISEASE$ is a recessive association of arrhythmogenic right ventricular cardiomyopathy (ARVC) with wooly hair and @PHENOTYPICFEATURE$ or similar skin disorder.	has_symptom
+17c2491dca6b7a511a4778049daeefee2ab3a163	@DISEASE$ is a recessive inherited condition with arrhythmogenic right ventricular dysplasia (ARVD) and a peculiar cutaneous phenotype (woolly hair and a @PHENOTYPICFEATURE$).	has_symptom
+088bb99fdfc2eb238d71c457e08e974491919259	@DISEASE$ has several different clinical presentations, ranging from acute liver failure with severe coagulopathy early in life, to slowly progressing cirrhosis with multiple nodules and variable renal dysfunction, to normal liver function with @PHENOTYPICFEATURE$.	has_symptom
+bf47d12f729c68687d2cc6256474953f670c6f71	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (@DISEASE$), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	has_symptom
+4e2ab81a4947988d406d93a6e979b0fab17f5b43	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's @DISEASE$, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+09f1134ea1bea5188cf9ca57dba3606799530e03	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, ichthyosis, and @DISEASE$ (MEDNIK) syndrome.	false
+96741ae94b550ad0fe11073c6529b7c40dd3de5c	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (@DISEASE$), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+dc39c6aec8494af3e462360a9b4f470dcbd2580c	There were eight patients with Sj?gren-Larsson @DISEASE$ (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+e6001a986097920717f0d30d41534f28d64c30bd	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) @DISEASE$.	false
+2729d308670cf287c7a8fd03ece933c171a86bf3	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, @DISEASE$, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+4192f94a0eccfe86ea22f76e2a16b524b6dda2fe	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, @DISEASE$, and keratodermia (MEDNIK) syndrome.	false
+5232a4e0239d94db23741abb887fe5c137e0d921	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, @DISEASE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+2375218e5805ac1957b0a0f7091362d111b50988	We report a new case of @DISEASE$ presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and @PHENOTYPICFEATURE$.	has_symptom
+008c3cdca72e92251b5e948f06c82bafb1cce79f	@DISEASE$ is caused by a supernumerary der(22)t(11;22) and typically manifests with @PHENOTYPICFEATURE$ and craniofacial dysmorphism.	has_symptom
+fe1985d2d0dbdde2b8b75cf69c2198e6f9de06ff	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and @PHENOTYPICFEATURE$ are the main features of the syndrome.	has_symptom
+b2c7a340e6f824abbf81f17b39d07abb7b197dab	@DISEASE$ results from +der(22)t(11q23;22q11). @PHENOTYPICFEATURE$, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+a718438ce07c39ac125936bca7247f7924ea3b57	Emanuel syndrome results from +der(22)t(11q23;22q11). @PHENOTYPICFEATURE$, ear anomalies, heart defects, genital anomalies, hypotonia, and @DISEASE$ are the main features of the syndrome.	false
+f068aa369d39e17a0ea7215e2519b2e3a748d18e	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, @PHENOTYPICFEATURE$, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+49f1469130a693117797dbd1ce1db1fa8d25e27b	Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, @PHENOTYPICFEATURE$, heart defects, genital anomalies, hypotonia, and @DISEASE$ are the main features of the syndrome.	false
+21dea5b538d564f4d3f2021eb7f70ea28b02b6cb	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, @PHENOTYPICFEATURE$, hypotonia, and mental retardation are the main features of the syndrome.	false
+ebed28fddc4b754b6d3e89a944626176b0c22705	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, @PHENOTYPICFEATURE$, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+0c9e04a58fc58a7ed4ddb56e41302b1e701c4927	Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, @PHENOTYPICFEATURE$, genital anomalies, hypotonia, and @DISEASE$ are the main features of the syndrome.	false
+398cd56e7d5ac7b345674bbd811cbaf2d30bb826	Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, @PHENOTYPICFEATURE$, hypotonia, and @DISEASE$ are the main features of the syndrome.	false
+011202acec2dc5d528b13476f3cc4afa5dd9d985	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	has_symptom
+0b30efdc7d8eeaba1e9eca1135521fef1f99e445	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+3eb77e384d878b78210a633a1e0b6f89eb81031a	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+1a6fce78e6516e704e74ccc015b21db046ec9860	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @DISEASE$, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+74c273962e6c82eb1b9429b086388f497ed956bb	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+41ce2964798a5f5dc1260f77acda9f47a1b64de7	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+12f89651d82a4a829507824c429ab810d90b06b1	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+1cabe4e96f482e13b2ab55a028c75ac9823d6fd1	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+000bc4e6936d8823e38753b502edb59de00d5302	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @DISEASE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+544440f8a13da135617b48f6fd7d000613e91683	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+35061b7f0d3264a114638c7bd0fd6b7632b586a0	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+650ed9ae0ef46d76afb4deb35370dda004ef3171	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @DISEASE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+a8b68b4b56d5209305fbdbd87f2418e138aab3aa	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+42b68997ec80a0aed6ccd4da61ea807a00bdcaa5	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+93b18e0722299e8585cda16a1146fa55e7476f4e	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+26c336313594aaa02c3c7680c6bde585ca5a0333	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @DISEASE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+2cc08552bcce133b8ed4b78824f448d629097675	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ff0c9257d25d2c0555b05cc31fdbf696b498fd5d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ca3aa76cc204a0bac294453f3044773fca0de6b8	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+dfce422623fbab4985ea1014c5fb7ed52cab84f6	@DISEASE$ consists of @PHENOTYPICFEATURE$, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality.	has_symptom
+5f4ae1dbd50b34af6f0e2cddb36b376acb666ee4	Hydrolethalus syndrome consists of @DISEASE$, @PHENOTYPICFEATURE$, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+3085553efa20c112199509c31643dc6e82991508	@DISEASE$ consists of hydrocephalus, polydactyly, @PHENOTYPICFEATURE$, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+6eedf24ad76b442037529d4663d45540fba4c65a	Hydrolethalus syndrome consists of @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+b76a2be189cd7094f664e91268e674b85f910b56	@DISEASE$ consists of hydrocephalus, @PHENOTYPICFEATURE$, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+0a0812f86ddaf7b5541d856128ac5435aad00a5b	@DISEASE$ may comprise mainly @PHENOTYPICFEATURE$, polydactyly, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality.	has_symptom
+751c60ad2cc58e4dbd72c75ba60663901b09b13e	@DISEASE$ may comprise mainly hydrocephalus, @PHENOTYPICFEATURE$, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality.	false
+189d767e0d3085f8b89d396ede5b34faa69e6481	@DISEASE$ may comprise mainly hydrocephalus, polydactyly, @PHENOTYPICFEATURE$, congenital cardiac and respiratory anomalies and uniform lethality.	false
+dd89c1532ce027118fa90478645f9fc2b52945ff	Hydrolethalus syndrome may comprise mainly @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, congenital cardiac and respiratory anomalies and uniform lethality.	false
+2ea3d66edcf7a4c8404bd47e67981f8a6bdb97db	Hydrolethalus syndrome may comprise mainly @DISEASE$, @PHENOTYPICFEATURE$, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality.	false
+14c98e12c3aff6282822a6cba538f0124584d133	The name @DISEASE$ (hydramnios, @PHENOTYPICFEATURE$, lethality) may be of help in this.	has_symptom
+a1052877682ebd7df28390682b9ec19be5a56aad	The index case had peripheral @PHENOTYPICFEATURE$; immunohematological and molecular genetic studies confirmed diagnosis of @DISEASE$.	has_symptom
+57198e5968af7d67cff1b56210201de3784937f6	The @DISEASE$ (OMIM#610978; ORPHA:209905) associated with other clinical phenotypes should suggest monoallelic deletions of chromosome 14 causing haploinsufficiency of NKX2-1, and other contiguous genes like PAX9 (@PHENOTYPICFEATURE$) or other dosage-sensitive genes in the chromosomal vicinity that emerge as candidates for hypogammaglobulinemia, mainly NFKBIA.	has_symptom
+41a203a08c2d6484ce37cd1fe8367de5a6a58d1c	Our patients also have symptoms of the @DISEASE$ (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, @PHENOTYPICFEATURE$, mental retardation and an old appearance.	has_symptom
+014341581525f203a2ebe6effae1df5929269831	Our patients also have symptoms of the wrinkly skin syndrome (@DISEASE$), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, @PHENOTYPICFEATURE$, mental retardation and an old appearance.	has_symptom
+ff7a9a653bbad6a5233157874e7d15d5d287337b	Our patients also have symptoms of the wrinkly skin syndrome (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, @DISEASE$, @PHENOTYPICFEATURE$ and an old appearance.	false
+9a497e0ae06336b9db8899f6f675cbdbda39c715	Our patients also have symptoms of the wrinkly skin syndrome (@DISEASE$), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, @PHENOTYPICFEATURE$ and an old appearance.	false
+fcc567b7b6753e6e559c97f85bbd4f9bb7d6fbce	Our patients also have symptoms of the @DISEASE$ (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, @PHENOTYPICFEATURE$ and an old appearance.	false
+b5e40e5e37ea63aea7b281e4bed02c19d32e5a59	Here, we report on a boy with a complex phenotype overlapping @DISEASE$ but exhibiting epilepsy, feeding difficulties, @PHENOTYPICFEATURE$, and congenital immunodeficiency with low levels of immunoglobulins as additional features.	has_symptom
+06b941023fc8a6521cf19cfd3d7e8e3436928a9a	Hydrocephalus, @PHENOTYPICFEATURE$, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	has_symptom
+0be2fdb69f16d5c5dee8133fd67b1731dc670957	Hydrocephalus, corneal opacities, @PHENOTYPICFEATURE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	false
+9ec2c8a66a4c5e599fa14b8329f093eaad9415cf	Hydrocephalus, corneal opacities, @PHENOTYPICFEATURE$, @DISEASE$, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+4d0a30c54934e27f34ae9853cf7d903f1612f321	Hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+2208a1cd7e2fe32b1e4593b44815f432fb817862	@DISEASE$ results in @PHENOTYPICFEATURE$ and renal failure.	has_symptom
+a11504f4e64af07344abbb955a8ad9beffb54622	@DISEASE$ results in hyperuricemia and @PHENOTYPICFEATURE$.	false
+736258b213d064df1b2de37946e7e0b61c0801ea	Uromodulin associated kidney disease results in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5f52cd5d196ecd0e598c699e26ebbe5f795bc400	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as @DISEASE$ (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, @PHENOTYPICFEATURE$ and gout, and progressive renal failure.	has_symptom
+0fff38ae850b47a1b62225b01db9e33a88f6e0f4	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as uromodulin-associated kidney diseases (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, @DISEASE$ and gout, and progressive @PHENOTYPICFEATURE$.	false
+8fa30e50e2fd6cc1553448cd51e8eb273e8c6e57	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant @DISEASE$, now referred to as uromodulin-associated kidney diseases (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, hyperuricaemia and gout, and progressive @PHENOTYPICFEATURE$.	false
+4cd0702e796e273ab4ae8a8fff48fbb9fed4fbc3	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as @DISEASE$ (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, hyperuricaemia and gout, and progressive @PHENOTYPICFEATURE$.	false
+7be652f1a7435817c6693b2f78d2e9c487fc4ccf	This is the first case of a 14q deletion encompassing the HPE8 locus with the only features consistent with @DISEASE$-type anomalies affecting the ocular system (i.e., @PHENOTYPICFEATURE$, coloboma), and without cerebral anomalies specific for HPE.	has_symptom
+c869531e2d42999fafc34a6fd88e62f78036a0d1	Except for ocular defects (i.e., @PHENOTYPICFEATURE$, coloboma) consistent with @DISEASE$-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis.	has_symptom
+bd51689b9b50c1837dfe931fc50aea2e52d7b0ce	Except for ocular defects (i.e., microphthalmia, coloboma) consistent with @DISEASE$-type anomalies, the minor @PHENOTYPICFEATURE$ was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis.	false
+fc0b581daa731e793d8e36f17f584b39ef43f525	Except for ocular defects (i.e., @DISEASE$, coloboma) consistent with HPE-type anomalies, the minor @PHENOTYPICFEATURE$ was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis.	false
+4eeb3d1e118fcfffdb05771a27738ba916d847a3	Arthropod-borne infectious diseases, such as malaria, dengue fever, Chikungu- nya fever, Zika @PHENOTYPICFEATURE$, and @DISEASE$, are also important.	has_symptom
+4c011b14d415f2e6c45b53b1fb87c81914c812e0	@DISEASE$ can be controlled in Africa within the next 10 years, if African governments seize the initiative for yellow fever control by declaring an uncompromising resolve to control the disease, the governments back up their resolve with an unrelenting commitment and unwavering political will through adequate budgetary allocations for yellow @PHENOTYPICFEATURE$ control activities, and international organisations, such as WHO, UNICEF, GAVI, etc., provide support and technical leadership and guidance to yellow fever at risk countries.	has_symptom
+7e92f90eb6f63a27c634840c88474758b78b8b46	Epidemiological notes on some viruses isolated in Uganda; @DISEASE$, Rift Valley fever, Bwamba @PHENOTYPICFEATURE$, West Nile, Mengo, Semliki forest, Bunyamwera, Ntaya, Uganda S and Zika viruses.	has_symptom
+ed9709c271fd5d14d18893830f2b09bc4fc90a16	Enhancement of contralateral @PHENOTYPICFEATURE$ on passively holding an eyelid in @DISEASE$ resembling myasthenia gravis.	has_symptom
+c309c10e31c12fab1acb65ceaa4697fe20c5e21f	Myasthenia gravis and @DISEASE$ may present with similar clinical symptoms as inconstant palpebral @PHENOTYPICFEATURE$, ophthalmoparesis, and muscle weakness.	has_symptom
+5e12b9372eb8d61ec8b642f5aab1c834e16ed0a9	@DISEASE$ is a genetic disorder characterized by chronic progressive external ophthalmoplegia and upper @PHENOTYPICFEATURE$ which occurs before 30 to 40 years of life.	has_symptom
+01f033cec3d0530ec03f6d1651374d2bec1bafe2	@PHENOTYPICFEATURE$ and HAART related @DISEASE$.	has_symptom
+bc278e1fe1d3910ee21a3be261b02c5387cef7a1	@DISEASE$ as a cause of @PHENOTYPICFEATURE$ and ophthalmoplegia in elderly females.	has_symptom
+3276e0f942266376b4c770edf181c6794aeeb3f6	[Surgical treatment of @PHENOTYPICFEATURE$ in cases of @DISEASE$ and severe myasthenia].	has_symptom
+89500c791f92d807fdc6b09c536bd7a29a37f794	In addition to ophthalmic symptoms (@PHENOTYPICFEATURE$ and retinitis pigmentosa), our patient displayed symptoms of disturbances of cardial conduction as well a @DISEASE$.	has_symptom
+d0f53a69ff3212468f274f476c91e4197ec57ad7	The case of a 63-year-old woman with @DISEASE$ with palpebral @PHENOTYPICFEATURE$ and nighttime nasal home oxygen therapy is reported.	has_symptom
+ac52e91149efcc5ebc6320687a411af4c6152924	We aimed to determine whether there was underlying @DISEASE$ in some aging patients diagnosed with involutional @PHENOTYPICFEATURE$.	has_symptom
+515e8524d5d6474bf38ecfc6ac97bffeb0b71a85	This deletion is associated with adult-onset diabetes and deafness, but not with ophthalmoplegia, @PHENOTYPICFEATURE$, or @DISEASE$.	has_symptom
+86610f010e11dc3965937494e7cb7a80d6fcec07	This deletion is associated with adult-onset diabetes and @PHENOTYPICFEATURE$, but not with ophthalmoplegia, ptosis, or @DISEASE$.	false
+bb01a38f064c114a804365d1b0c021c3665a6b9b	This deletion is associated with adult-onset diabetes and @PHENOTYPICFEATURE$, but not with ophthalmoplegia, @DISEASE$, or mitochondrial myopathy.	false
+0cce253f54fab1a039e34a992c6fb45e42b34d39	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fdc362d332cc2c9eeaebf44c728dfa734bdff4d9	The @DISEASE$ phenotype: spasticity, @PHENOTYPICFEATURE$ and micrognathia with agenesis of corpus callosum and loss of white matter.	has_symptom
+a8cd67cd4be74bf71abffe6b9a6d1130d0e5006b	The @DISEASE$ phenotype: @PHENOTYPICFEATURE$, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.	false
+8eeae97ac9592dd59d6283f5abd6644dcd04f27c	The @DISEASE$ phenotype: spasticity, microcephaly and @PHENOTYPICFEATURE$ with agenesis of corpus callosum and loss of white matter.	false
+9c7f7534baea5ccd5b6c90dc9c62e07515782d8b	The desmosterolosis phenotype: spasticity, @DISEASE$ and @PHENOTYPICFEATURE$ with agenesis of corpus callosum and loss of white matter.	false
+82b4a2bbd511e7e3445a1879c19645e651ff4209	The desmosterolosis phenotype: @PHENOTYPICFEATURE$, @DISEASE$ and micrognathia with agenesis of corpus callosum and loss of white matter.	false
+8689ee176b90d732602abce3ca0f4f7aedf4c0f8	We report a case of late onset @DISEASE$ in a 59-year-old woman presenting with urinary and fecal incontinence and behavioural changes, then rapid progression with hemianopia, hemiparesis, @PHENOTYPICFEATURE$ and cognitive decline.	has_symptom
+3885ab4a7344af578e7a450d23f34bfdf76cf0ca	In conclusion, compared with CRP, @PHENOTYPICFEATURE$, and WBC, serum PCT had a better performance in differentiating infected from noninfected @DISEASE$ patients and thus should be considered as an adjunct test when facing the dilemma of initiating empiric antibiotic in AMI patient demonstrating inflammatory signs.	has_symptom
+ec234f3341d2875d80c7752aadc969bf21ca3aa7	In conclusion, compared with CRP, @PHENOTYPICFEATURE$, and WBC, serum PCT had a better performance in differentiating infected from noninfected AMI patients and thus should be considered as an adjunct test when facing the dilemma of initiating empiric antibiotic in @DISEASE$ patient demonstrating inflammatory signs.	has_symptom
+c79ee87147d5a8dc24abb45283dca6368f81f621	Notably, the sensitivity and specificity of JA were relatively low in unselected groups, while they tended to be high in the selected sub-groups with acute onset of headache and @PHENOTYPICFEATURE$, without @DISEASE$ or neurological deficits.	has_symptom
+962c6e15567fce53dd545e05fdacc96e717a5c5f	The clinical presentation of ectodermal dysplasia with @PHENOTYPICFEATURE$ was consistent with @DISEASE$, which is one of several allelic diseases associated with mutations in the TP63 gene.	has_symptom
+e2bf6d37588086a7fa3ea26104195dd2baceb589	@DISEASE$ (RHS) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/@PHENOTYPICFEATURE$.	has_symptom
+717d909911450e5715606a7c525c88d810b423cf	@PHENOTYPICFEATURE$ in patients with @DISEASE$: Experience with extended high cut-off hemodialysis.	has_symptom
+1fd37028972ad50a219438494247cc2ec47a1b77	A @DISEASE$ of bone dysplasia, retinal detachment and @PHENOTYPICFEATURE$.	has_symptom
+e8c0cc265b8aab68784463a92f1694a98589a0cc	In total, 264 @PHENOTYPICFEATURE$ cases were recorded; 81% were live births, 2% of which were diagnosed after the 1st year of life; 54% of cases with @DISEASE$ or a co-existing congenital anomaly were prenatally diagnosed.	has_symptom
+5f84f98006c8a2c7305a074aac77d3a1d906594e	Echocardiography orientates the clinical diagnosis before catheterisation so increasing its value or, on the other hand, making it unnecessary (primary @PHENOTYPICFEATURE$, @DISEASE$, left ventricular hypoplasia).	false
+62f78e09bb69d62b3c5d9461d85236527b559b2c	Patients with @DISEASE$ show variable mental disability, typical long and @PHENOTYPICFEATURE$ appearance with large ears and prominent fontanelle and frequent macro-orchidism.	has_symptom
+36a63ebbfa2102fe75d1ab91a11e9b04ed95fa00	Patients with @DISEASE$ show variable @PHENOTYPICFEATURE$, typical long and narrow facial appearance with large ears and prominent fontanelle and frequent macro-orchidism.	false
+3883eaab42a7a5af760f177fb4feaeb8bc7a365d	Patients with fragile X syndrome show variable @PHENOTYPICFEATURE$, typical long and @DISEASE$ appearance with large ears and prominent fontanelle and frequent macro-orchidism.	false
+7cb2c2086c53ba9d143e0af91cf44f21c78be458	Pseudoaminopterin syndrome or @DISEASE$ (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, @PHENOTYPICFEATURE$, cryptorchidism, and growth retardation.	has_symptom
+7a53c277aa4c1e1e5c389fd9060a7caf47782f96	@DISEASE$ or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, @PHENOTYPICFEATURE$, cryptorchidism, and growth retardation.	has_symptom
+15faa5a1381d65bb6fc0df3c5f2091f5d38e0d24	Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3f60260f7dc55b03b022f9c8d531f38060a3b712	Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive @DISEASE$ defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+d8896c8fb83a325c8f988d77ed49ca48f25be3b4	@DISEASE$ or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+80aef8b7197d2f65d796862bb281c96b7b9d77c8	Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, @DISEASE$, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+a238cdd51da2c35fea61644df7926be6976a7540	Pseudoaminopterin syndrome or @DISEASE$ (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+2c4293af63f1a731459cd74879a066d130207915	@DISEASE$, a condition described in three earlier patients, is a constellation of macrosomia, obesity, @PHENOTYPICFEATURE$, and ocular abnormalities as the main findings.	has_symptom
+3ed50a7850127c9e5566913cc79463cbc045a052	MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, @PHENOTYPICFEATURE$, @DISEASE$, and ocular abnormalities as the main findings.	false
+e91b86c56897df82cb319ae30bed834aedc3576a	@DISEASE$, a condition described in three earlier patients, is a constellation of macrosomia, @PHENOTYPICFEATURE$, macrocephaly, and ocular abnormalities as the main findings.	false
+b1d38a51546d0394de35d84fd404b0d4d754f492	Macrosomia, obesity, @PHENOTYPICFEATURE$, and ocular abnormalities syndrome (@DISEASE$) has been reported in only four patients to date.	has_symptom
+4c92092e14d12abe34daacca0a244a0b4dd0a3d6	Macrosomia, @PHENOTYPICFEATURE$, @DISEASE$, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date.	false
+0969e458fc71751b30d165a9b09dadc6ccf5e9f3	Macrosomia, @PHENOTYPICFEATURE$, macrocephaly, and ocular abnormalities syndrome (@DISEASE$) has been reported in only four patients to date.	false
+4d0dd4ee162a2420d9fdeeafd319871631b68a66	Macrosomia, @PHENOTYPICFEATURE$, macrocephaly, and ocular abnormalities @DISEASE$ (MOMO syndrome) has been reported in only four patients to date.	false
+3967144c2f3fb138eedce11075308c4464e87479	Macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (@DISEASE$) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.	has_symptom
+4e6ebf2dafba77e37271db189968f11ba02b4cfc	Macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (@DISEASE$) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.	false
+21a492b96e8ba6b57595e66dd41497cbb26394ad	Macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized @DISEASE$.	false
+dca278371d5f0038cf321646faebcb062d371cbe	Macrosomia, @PHENOTYPICFEATURE$, @DISEASE$ and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.	false
+e37eb6cafcbe95e132c94d27961332d301d805bb	The combination of obesity, @PHENOTYPICFEATURE$, and colobomas is unique, therefore these features can be used as major diagnostic criteria of @DISEASE$.	has_symptom
+760c55defb1152a8c103eda76665555ce5d43bb3	The combination of @PHENOTYPICFEATURE$, @DISEASE$, and colobomas is unique, therefore these features can be used as major diagnostic criteria of MOMO syndrome.	false
+2add45d870745b0a27ef8b842b7a1af5e26225dc	The combination of @PHENOTYPICFEATURE$, macrocephaly, and colobomas is unique, therefore these features can be used as major diagnostic criteria of @DISEASE$.	false
+7f81399265553db3e9f1b93da8ba1ee107801ea9	This is a case report of macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (@DISEASE$) associated with autism.	has_symptom
+7e1ccba060e22387a222e8009242ef0038b9d857	This is a case report of macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (@DISEASE$) associated with autism.	false
+4d1a0422721f99dc474712337245798209eeebed	This is a case report of macrosomia, obesity, @DISEASE$ and ocular abnormalities (MOMO syndrome) associated with @PHENOTYPICFEATURE$.	false
+61263b8124e979572d6ac0fdc3297faf831e1810	This is a case report of macrosomia, @PHENOTYPICFEATURE$, @DISEASE$ and ocular abnormalities (MOMO syndrome) associated with autism.	false
+f269a2e4975d05c0c1510686f4d0e706ed36fa88	This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (@DISEASE$) associated with @PHENOTYPICFEATURE$.	false
+4490bc475fd2ceeaa52dac285419974271b1711c	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	has_symptom
+e1d807e2cdd5c43c086a3731c40da963e228aaba	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (@DISEASE$ hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+b412c3364f73a49ec1fed15fdc59989be23b4ca9	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and @DISEASE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+332a77d43e03a473acdf9b81583c60f74f22c531	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+b41a6ce66fd426df0605699f1289bf122a3a0b3d	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (@DISEASE$ hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+8b145f8c42df128b5a31c16067c61361e4c5a394	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) @DISEASE$.	false
+946248dfb8731508d2bd4925b057a60a5d7db206	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, @DISEASE$, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+30f1b36cf1ee4b53aadbeb5a406c996d7e3f1dce	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+3ed39aadafb72c12e1d1a5cf2b197d7f3b242a89	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented @DISEASE$ with insulin-dependent diabetes mellitus) syndrome.	false
+3ce491385d2d3379ed2dc6e48e0af473f702f898	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented @DISEASE$ with insulin-dependent diabetes mellitus) syndrome.	false
+3c4c2ed5a27ab65620a99215e147e146b0d7c572	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with @DISEASE$) syndrome.	false
+bd8387916dc362949850bded083e7411d420a2e5	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with @DISEASE$) syndrome.	false
+7e36009efced7dda5a6a5053ec1856703a29515f	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, @DISEASE$, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+f4147068b06b9fad5b5b068d0f638e28a8af6531	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) @DISEASE$.	false
+6dbe926a00f92b5e8fe6a5240e5bdcb47d00f85e	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @DISEASE$, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+3069ec5bd575817c491389c84ddd7b63760cfe87	The @DISEASE$ (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, @PHENOTYPICFEATURE$, histiocytosis and short stature.	has_symptom
+4cfb528e95768d2aded406430ae3d0f350f4d5af	The @DISEASE$ (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and @PHENOTYPICFEATURE$.	false
+d9523917e21d87b8ebc653262c3ceb719bf11222	The H syndrome (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, @DISEASE$, histiocytosis and @PHENOTYPICFEATURE$.	false
+21e342605dcf23ed377863d19cb650ecfc5e203b	The term @DISEASE$ was coined to denote the major clinical findings which include hyperpigmentation, @PHENOTYPICFEATURE$, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/flexion contractures.	has_symptom
+dace36428c619c64ae9c86652a469cadc880318b	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, @PHENOTYPICFEATURE$/@DISEASE$ and hallux valgus/flexion contractures.	false
+a2b4c6c0a69a7548033f5326150a26517080476c	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, @DISEASE$, hepatosplenomegaly, hypogonadism, @PHENOTYPICFEATURE$/diabetes mellitus and hallux valgus/flexion contractures.	false
+0d245c5becd6d08f183a4b657da455447be79a7c	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, @DISEASE$, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/@PHENOTYPICFEATURE$.	false
+8ed48509487181450126bdcfba4a837ee5010f81	The term @DISEASE$ was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, @PHENOTYPICFEATURE$/diabetes mellitus and hallux valgus/flexion contractures.	false
+a02bd6b9c468c7cea17f7e28041811b6a3bebfa1	The term @DISEASE$ was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/@PHENOTYPICFEATURE$.	false
+f71a54f9a84e1e2ff35c5a8600d96cd7f28a331e	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, @DISEASE$, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/@PHENOTYPICFEATURE$.	false
+dad67ec511799d8f8bb0fa1e08fd0ae75498aefd	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, @DISEASE$, hearing loss, hepatosplenomegaly, hypogonadism, @PHENOTYPICFEATURE$/diabetes mellitus and hallux valgus/flexion contractures.	false
+65864d4f5a4c89ccf4e9e2eab82cfcdc09d25369	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/@DISEASE$ and hallux valgus/@PHENOTYPICFEATURE$.	false
+da661a16684c878460ee7ce5c92eb37f0acd2820	Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including @DISEASE$, pigmented @PHENOTYPICFEATURE$ with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis.	has_symptom
+a55c48f75114b82fa9e3510a8927ef53b3275506	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	has_symptom
+d6f58e7194a44591db581f833245f7380f754ccd	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @DISEASE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+e42b37997421150f38026d20c94e11cc7fdc8dee	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+640518f044e39af501ed73a0aa50240cd6349498	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+d1c732f95273c061ff772419f5929c06f26eda17	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+12b003cad899c59adce496b6cb02532016eebeab	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+7c27dafab774a8eed74b0e4ac50b628b00e9a0fd	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+5fa4b4a5db96ba10a97c7835a79cc4cb40b0ca7f	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+3a2a4b314719bd260fe2930a01e5217a27db9afa	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @DISEASE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+9b54540d566cffce0f3ea8faa4087dc7d33d071a	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+8dc7d314dd2741902fb8e3ad3b08161e6431e618	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+afa9dc16dd922a80ebf956ea9b3ab665e1b14f63	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+f42b6b25d46ec45f1dcebcd42c466c00d0df4538	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+60fc2ac30694393d81d87cbff5f1267d71ca0a9f	The patients share many of the characteristics previously reported with @DISEASE$, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	has_symptom
+5af8d2d143ee48ae2a598a73329d78d8ee0c8135	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, @DISEASE$, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+708ab521e153304e957dedabc9b0ee4781d71b22	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, @DISEASE$ and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+6d6e19381494008bd12f37e530c4e887c03a00d9	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @DISEASE$, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+5c6006831ece1ca4f0b147cbd4028eb0c2b1628c	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and @DISEASE$.	false
+a5dc2de2f8834d7ef9ba4be3902d6d4a022f7bd7	The patients share many of the characteristics previously reported with @DISEASE$, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+f824513e1127ecfd5b426ca09e6f09e96d6f9429	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including @DISEASE$ and autoimmune hepatitis.	false
+4154da34d1e1049421aae69aff3f9f93f5b5c5dd	Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including @DISEASE$, pigmented @PHENOTYPICFEATURE$ with insulin-dependent diabetes, and Faisalabad histiocytosis.	has_symptom
+93eb5d148be61c6b86f5a99db14c945dd0ab5e56	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	has_symptom
+c8c8bf185d6f0f8674a34e5bb92ce7a3de58da0a	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+260ca1f2b89c5324d87cf5b0164dd55a01e4c612	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/@DISEASE$, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+4131b06b5f1d66fc489a0b76b620e99089da34b4	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+55eb45e9d1c8d9c267ec463186c2d24828fbd94d	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+dd076d1bd5f0d0c124a3bd5fc4633800681b968d	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+a5715b0b598d99375be66e0a864481ff30004763	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @DISEASE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+3236a09ac034ddd6ee6de9ea89a21289c9214636	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+1fa83ce974dac5d1d1b3b94eaf7c1fe22befdc26	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+8ade5effade87321f7438de021a846b2769d60fe	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/@DISEASE$, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+39085350ac537b4a3471d35b71b18761812240ea	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+622654f7110aa25e51ba676ce28bf1e988a699e4	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	has_symptom
+ccd3e24548b422aa0cde06db0bf4ee7102e7a7df	H syndrome is a rare autosomal recessive @DISEASE$ characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+a496374af79d37bcf53176229ba294921932c668	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+88aa1ec40a0b0702bae9b2cca0a3f82c1b991333	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, @DISEASE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+aaec525ace406ded8fab49bce458717aa89048eb	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+05438af4d6165055b0ce678294ac03c21602acc7	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+cf0215bf9c46762cdda838c6397f6095699198f2	H syndrome is a rare autosomal recessive @DISEASE$ characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+c72ad3194889d364dd7d0aad6c89b9da47386720	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, @DISEASE$, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+8028c8cef7de1cca6022332c4b4b7b0a0beae4e5	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @DISEASE$, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	false
+24fc639f640ec10eb011dac490f3ef268ab9ba7a	@DISEASE$ and pigmented @PHENOTYPICFEATURE$ with insulin dependent diabetes (PHID) are allelic autosomal recessive syndromes reported in the last year to be caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.	has_symptom
+4ecdef566b81d3cb316af2185ee01f9fa855bd45	@DISEASE$ (OPG) presents in childhood and can cause significant morbidity and @PHENOTYPICFEATURE$.	has_symptom
+343caa27d39b1842ff01ded53ab6f36d2a67f2c2	@DISEASE$ is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	has_symptom
+a9f250cc2c41e9447a407badf67909d43cca01c1	@DISEASE$ is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+431fcff0c3775d1bbb802ac6bcc7395c89243442	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, @DISEASE$, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+bb3500a3b7ba2bf23dcf8e8ce251bcc2e5bf60e6	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+d635c78c948343d7f8cb42a9a50836ba7be7ea52	We describe a fetus in whom sonographic findings of clover leaf skull deformity, @PHENOTYPICFEATURE$, and varus deformity of the great toe led to the prenatal diagnosis of @DISEASE$. We believe this is the second prenatal diagnosis of Pfeiffer syndrome, and the first time type 2 has been definitely identified in the second trimester of pregnancy.	has_symptom
+fc62e01bc4bbfc57383e02ba98ad078cccaa51e7	Case analysis of @PHENOTYPICFEATURE$ complicated with @DISEASE$.	has_symptom
+01b86124fdd4d0d32b84ba9ce90c92d232e85fca	@PHENOTYPICFEATURE$ in children and adults with @DISEASE$.	has_symptom
+17dac2690703cd47fe01733e4ea7d814b0c12733	von Recklinghausen @DISEASE$ (NF1) is an autosomal dominant genetic disorder associated with congenital pseudoarthrosis and with @PHENOTYPICFEATURE$.	has_symptom
+58fdc74830b12a22a30da1aacb715498c6285e49	The first textbook of Pediatric Endocrinology in the early 1950s reported an association of @DISEASE$ (NF1) and precocious puberty (PP) and/or @PHENOTYPICFEATURE$.	has_symptom
+e90a0a0442684b197ac5a0404a5059e95e046641	We describe a patient with familial @DISEASE$ (NF1), @PHENOTYPICFEATURE$, developmental delay, and a de novo chromosome abnormality.	has_symptom
+236fe4308f4cf8292391dc8fe85746344443a614	We report on four patients with @DISEASE$ and manifestations of Noonan syndrome including @PHENOTYPICFEATURE$, ptosis, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	has_symptom
+04293908d5316b35840cd397d38d613259f8f365	We report on four patients with neurofibromatosis and manifestations of Noonan syndrome including @DISEASE$, @PHENOTYPICFEATURE$, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	false
+9d7a12b4ecfd5385d0a08debfafd570bbdf7fa77	We report on four patients with neurofibromatosis and manifestations of @DISEASE$ including short stature, @PHENOTYPICFEATURE$, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	false
+43c8b83a66aecea05344ab44cafd03693809bbbc	We report on four patients with @DISEASE$ and manifestations of Noonan syndrome including short stature, @PHENOTYPICFEATURE$, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	false
+b1df4c3e81dc369a9fdfd171558618f3613ab8c8	These data demonstrate that @PHENOTYPICFEATURE$ in @DISEASE$ is due in part to subnormal height acquisition during puberty.	has_symptom
+47142da4f22f47e5f29822af3459b51694fdcea6	@DISEASE$ (NF1) is a pandemic genetic disorder characterized by malignant and nonmalignant manifestations, including skeletal abnormalities, such as osteoporosis, scoliosis, @PHENOTYPICFEATURE$, and pseudarthrosis.	has_symptom
+360db3ba5734ead754ef2a896b1a27ccccadf12d	Neurofibromatosis type 1 (NF1) is a pandemic @DISEASE$ characterized by malignant and nonmalignant manifestations, including @PHENOTYPICFEATURE$, such as osteoporosis, scoliosis, short stature, and pseudarthrosis.	false
+b62f8723f44bce067c58d7de095c1a2d1bb81be0	Neurofibromatosis type 1 (NF1) is a pandemic genetic disorder characterized by malignant and nonmalignant manifestations, including @PHENOTYPICFEATURE$, such as osteoporosis, @DISEASE$, short stature, and pseudarthrosis.	false
+a3437b9aa22a976702c7447ce36a3bc637273761	@DISEASE$ (NF1) is a pandemic genetic disorder characterized by malignant and nonmalignant manifestations, including @PHENOTYPICFEATURE$, such as osteoporosis, scoliosis, short stature, and pseudarthrosis.	false
+260b1c54f9f4082fc00d517524c9d425706f52bd	Neurofibromatosis type 1 (NF1) is a pandemic genetic disorder characterized by malignant and nonmalignant manifestations, including @PHENOTYPICFEATURE$, such as osteoporosis, scoliosis, @DISEASE$, and pseudarthrosis.	false
+791b9eb63cb514a31cada6c71c7fc2f52326fd1f	Neurofibromatosis type 1 (NF1) is a pandemic genetic disorder characterized by malignant and nonmalignant manifestations, including @PHENOTYPICFEATURE$, such as @DISEASE$, scoliosis, short stature, and pseudarthrosis.	false
+3a42f386ad077691d5949fd2453cf5c9cc4c100e	@DISEASE$ phenotype combined with webbed neck and @PHENOTYPICFEATURE$ in a young Omani patient was revealed to be due to a de novo germ-line heterozygous 1.7?Mb microdeletion at 17q11.2.	has_symptom
+a3e437fef5bfb4484f56446278dbd8b09a9f7925	We are reporting on a boy and his mother with @DISEASE$ and manifestations of Noonan syndrome, including @PHENOTYPICFEATURE$, ptosis, midface hypoplasia, and short neck.	has_symptom
+f684d68b633ec836413896a82e6fde0b21e597c5	We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including @DISEASE$, @PHENOTYPICFEATURE$, midface hypoplasia, and short neck.	false
+2b97300af4b641929cd18cfb90f027778e26d818	We are reporting on a boy and his mother with @DISEASE$ and manifestations of Noonan syndrome, including short stature, @PHENOTYPICFEATURE$, midface hypoplasia, and short neck.	false
+be103cd6d06449ee8a0a095b9c3e2db3f6c5aabb	We are reporting on a boy and his mother with neurofibromatosis and manifestations of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, midface hypoplasia, and short neck.	false
+3ba43be00721e7bb2d57d4d40563b05f3734c285	@PHENOTYPICFEATURE$ and hyperthyroidism; some views on a case of thyrotrophic exophthalmos with @DISEASE$ liver damage and anemia after 8 years.	has_symptom
+21d7b9012aef381e919dee4c476b7c20f4b44a03	@PHENOTYPICFEATURE$ and @DISEASE$; some views on a case of thyrotrophic exophthalmos with hyperthyroidism liver damage and anemia after 8 years.	has_symptom
+b5e952fe1033bb73a076438571cdb90bdeaa3afc	Antiphospholipid syndrome (APS) is a rare systemic autoimmune disease, the obstetric features of which include recurrent early @PHENOTYPICFEATURE$, fetal death at or beyond 10 weeks of gestation, and early delivery for severe preeclampsia or @DISEASE$.	has_symptom
+96ad452388d35fb0da893e1bfb2fb11df85b223e	During the 14th International Congress on Antiphospholipid Antibodies (aPL), a Task Force with internationally-known experts was created to carry out a critical appraisal of the literature available regarding the association of aPL with obstetric manifestations present in actual classification criteria (recurrent early @PHENOTYPICFEATURE$, fetal death, preeclampsia and @DISEASE$) and the quality of the evidence that treatment(s) provide benefit in terms of avoiding recurrent adverse obstetric outcomes.	has_symptom
+255af1d869dcbe0ae03387f94b05b099a352e1da	Pregnancy morbidity includes unexplained recurrent early @PHENOTYPICFEATURE$, fetal death and late obstetrical manifestation such as pre-eclampsia, premature birth or fetal growth restriction associated with @DISEASE$.	has_symptom
+83a5d1e3f9b8452a19a7f4603a7ae902851e14ba	More about @PHENOTYPICFEATURE$-triggered @DISEASE$ and SUDEP.	has_symptom
+f6b30ff3f24ad9cfd18f4f9fa72e7355c63109c1	Delayed onset of @DISEASE$ after @PHENOTYPICFEATURE$.	has_symptom
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+7e476af59cf5d61866ef047c1881931bc0753305	@DISEASE$ induced by @PHENOTYPICFEATURE$.	has_symptom
+3c797efb5571738bec4636a4bc6ee52a94fbbd47	@DISEASE$ secondary to @PHENOTYPICFEATURE$.	has_symptom
+cf39e9a7181a6e9eec6b3be9cf3f5d02aa9b64e6	It is unknown if @PHENOTYPICFEATURE$-associated takotsubo cardiomyopathy differs from @DISEASE$ associated with other triggers.	has_symptom
+4c6ae5003c00129003e74dedf6c51492baa7a85d	It is unknown if @PHENOTYPICFEATURE$-associated @DISEASE$ differs from takotsubo cardiomyopathy associated with other triggers.	has_symptom
+c3a0e4499960e54dbe5c363a75e2209022d53fc5	Unusual combined cause of @DISEASE$: Hyponatremia and @PHENOTYPICFEATURE$.	has_symptom
+68fd3fabf07c0d96cdb17a103d8554bcbceb50b9	Response to: Triple occurrence of @PHENOTYPICFEATURE$-associated @DISEASE$.	has_symptom
+e8d2f26394a0dad640f424c0a45404479e3fc748	[@PHENOTYPICFEATURE$ complicated by @DISEASE$].	has_symptom
+ea2f9c649ea60fef596393244a054ac15d8a4a91	@DISEASE$ after @PHENOTYPICFEATURE$.	has_symptom
+18193e09fefc88c00dea0cdc357adb22f775a65f	@DISEASE$ associated with epilepsy, @PHENOTYPICFEATURE$ and hearing impairment.	has_symptom
+ba2545fa2a80298472a31719b6b72463d9e60521	@DISEASE$ associated with epilepsy, mental retardation and @PHENOTYPICFEATURE$.	false
+5830b3b3bbf6c56feae1dc01e7a4e706e1fd82db	Hereditary spastic paraplegia associated with epilepsy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4179079fb4df829e99b476e9801013fe509a3296	The clinical manifestations were very early onset spastic paraplegia (@DISEASE$) accompanied by @PHENOTYPICFEATURE$ and ocular signs.	has_symptom
+381304aca059c9222b5364a495b0a218b2b55b59	Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of @DISEASE$, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by @PHENOTYPICFEATURE$.	has_symptom
+5430d6c1e3fdd053e481c95f7e74f8c22b02d2bc	Autosomal recessive @DISEASE$ (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by @PHENOTYPICFEATURE$.	has_symptom
+64a2f1c1dcf21dc293142f29af849a1b88bb7629	We report a 48-year-old woman with @DISEASE$ (FSP) showing @PHENOTYPICFEATURE$, amyotrophy and sensory disturbance.	has_symptom
+63386b4552c9ab687233ccbc360249773192806b	The authors studied two families with autosomal recessive hereditary spastic paraplegia (@DISEASE$) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, @PHENOTYPICFEATURE$, and further intellectual deterioration.	has_symptom
+b25df7d49e2945134f83990a91b0918ebc5c6a30	The authors studied two families with autosomal recessive @DISEASE$ (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, @PHENOTYPICFEATURE$, and further intellectual deterioration.	has_symptom
+828efb05d2950bf7bd8567bfbaa7f41e845540fb	Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including @PHENOTYPICFEATURE$ with cortical malformations, @DISEASE$ and spinal muscular atrophy.	has_symptom
+d182b29139a4363f7f75e9ddb7bbcfa9dc21ddcf	@DISEASE$, @PHENOTYPICFEATURE$, and precocious puberty.	has_symptom
+f04d38ef7efa494d6795b082ff18f00a58562756	[@DISEASE$ associated with congenital cataracts, @PHENOTYPICFEATURE$ and peripheral neuropathy].	has_symptom
+27bfc81299cb13b30c0da0e4757e9c60d7443673	[@DISEASE$ associated with congenital cataracts, mental retardation and @PHENOTYPICFEATURE$].	false
+22495d12d0f2786830e6c5565fec1f6dfafa4af7	[Hereditary spastic paraplegia associated with congenital @DISEASE$, mental retardation and @PHENOTYPICFEATURE$].	false
+b546172d7e5db3e11515235a293f41f8a0bd00d8	[Hereditary spastic paraplegia associated with congenital cataracts, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+e066c6cc081da0c98b6bdac195556cf7389bf2c2	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	has_symptom
+1c5a81cc29a39eabd8a2733d015dad5125788ae0	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	has_symptom
+bcebee2842a00c6411a4689702cbebb41936f218	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+31bdd43f1f73e31bd6153d34ee2e47e59601e8da	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+6f4f90a02f29fe183d7f44cd5abb07ab50b66dd4	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the @DISEASE$.	false
+c81dda400e6f68e42bf0edd9d3f9d37b837f8046	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @DISEASE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+7ac73912851478d9d5c80579b6c1de79337d8175	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+80bb4ea85f63949ff36a246368ab46a7d7d47f06	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @DISEASE$, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+d4e92a501aed04d1238d448fae523b86bcea4b2c	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+7f855b2104ca74b7d5522c0d2b05cf5040325610	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+cde19d25d5057f512a9509b64ff26f1c053348f9	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic @DISEASE$, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+0fa3125d45d89a82138afb8636d70ceab44dedcc	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the @DISEASE$.	false
+e58a9405621d43269562d88babfa1ba7331fa8aa	Complex hereditary spastic paraplegia (@DISEASE$) is a genetic disorder that causes lower limb spasticity and weakness and @PHENOTYPICFEATURE$.	has_symptom
+08951ffa5d2f5b287bb1e6d4dcf1c546a07efcbb	Six patients developed the clinical syndrome of @DISEASE$ (VOD) characterized by progressive abnormalities in liver function, @PHENOTYPICFEATURE$, and ascites 15-70 days after mitomycin C therapy.	has_symptom
+d9eda05cebd9ab03bf007dd1eaacb8f771af061e	Chemotherapy for @DISEASE$ may cause cerebral infarction (due to emboli from anthracycline-induced cardiomyopathy) and @PHENOTYPICFEATURE$.	has_symptom
+a435c145f7f428ed47e7618f7102e5a4775e8527	Treatment with corticosteroids and 6-mercaptopurine was partially successful, but the patient developed @PHENOTYPICFEATURE$ and over signs of @DISEASE$.	has_symptom
+6ab39dc2c410aff1088900e3ac4f023f911cbe11	Acquired neuromyotonia and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+e559502a8fd651b6c3f8b4edeaccae300a43be1b	@PHENOTYPICFEATURE$ during alpha-interferon therapy in a child with @DISEASE$.	has_symptom
+e9eeccea2dadf7314814378757bd3bdbdbf197ba	A 58 years old obese man,smoker, with a history of unregulated Type 2 Diabetes Mellitus, @PHENOTYPICFEATURE$ and @DISEASE$ was referred to Athens-Greece university hospital Laikon.	has_symptom
+5b252fae0f28561798a4f238bd593a114e2cb873	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	has_symptom
+8a728bbafe59c339cdd8b384ac693c7dca259974	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+3129c06a45b76ee28465626b0bddf08dd5ac7d70	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+5fe0a6659fd475adad2ed7101d8181b9cb07f42d	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+bcfb4a483b6346520559d8c7672ad9d3b26a4fde	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive @DISEASE$ are consistent with oral-facial-digital (OFD) type II syndrome.	false
+ae027c18e77cdda5e42f48e2d08087189716ee89	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive @DISEASE$ are consistent with oral-facial-digital (OFD) type II syndrome.	false
+ce37ae96e083208e8aff1a5199a153b7f887e934	@DISEASE$ trauma: @PHENOTYPICFEATURE$ patients have a significant risk for injury.	has_symptom
+7e6d34c4679e98dffe250f28e107d2f8fbb363db	(1) @DISEASE$ FCD type 1b could represent a missing diagnosis in patients with SE-MISF in the absence of other causes for their @PHENOTYPICFEATURE$.	has_symptom
+92d2cebfe2d58395f2942e3ffa7067bc1fe57b3a	A variant of @DISEASE$: a Japanese boy with profound @PHENOTYPICFEATURE$, cataracts, mental retardation, and brachycephaly without craniosynostosis.	has_symptom
+28c5858fd7e6a5fe8fb9caa8c6aec61c132c6bcc	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, and brachycephaly without craniosynostosis.	false
+dc19cb3b895e110cb0e0d492d6caebdcdcd0a063	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, @PHENOTYPICFEATURE$, and brachycephaly without @DISEASE$.	false
+8891532ee1bbfdbce78bd2d9b344ea8bfb3b79b7	A variant of @DISEASE$: a Japanese boy with profound deafness, cataracts, @PHENOTYPICFEATURE$, and brachycephaly without craniosynostosis.	false
+d0bbff549558b30fd3ca8fccfd5fca315ed8381d	A variant of @DISEASE$: a Japanese boy with profound deafness, @PHENOTYPICFEATURE$, mental retardation, and brachycephaly without craniosynostosis.	false
+d7d391361aba3e01a73bcbc6f616b218a887a1e8	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound @DISEASE$, cataracts, @PHENOTYPICFEATURE$, and brachycephaly without craniosynostosis.	false
+4c53f3daab3c5e7f6870214bff7f231326fad887	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, @PHENOTYPICFEATURE$, mental retardation, and brachycephaly without @DISEASE$.	false
+a6120fac3d659f59b681796a839859a82f173528	@DISEASE$: a fourth patient with brachycephaly, @PHENOTYPICFEATURE$, cataract, microstomia and mental retardation.	has_symptom
+376c76d01a6e75925626beff61794a81658d5132	Fine-Lubinsky syndrome: a fourth patient with brachycephaly, @DISEASE$, @PHENOTYPICFEATURE$, microstomia and mental retardation.	false
+b8fe6b017a9fee0b48c6e4d1a3964c8c837ac921	@DISEASE$: a fourth patient with brachycephaly, deafness, cataract, microstomia and @PHENOTYPICFEATURE$.	false
+b47435d8480ad40c8632f3393560a9efa0251913	@DISEASE$: a fourth patient with brachycephaly, deafness, @PHENOTYPICFEATURE$, microstomia and mental retardation.	false
+e9dd79ac859749738aa215c18a50372ad87efa2a	Fine-Lubinsky syndrome: a fourth patient with brachycephaly, @DISEASE$, cataract, microstomia and @PHENOTYPICFEATURE$.	false
+073aed1bc73c0c1e903753ad1d134c9f6ae29716	Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and @PHENOTYPICFEATURE$ (@DISEASE$) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	has_symptom
+e8cd2633fe6874bcd99f777f932cd4b0e389e0e1	@PHENOTYPICFEATURE$, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (@DISEASE$) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	false
+e73c34c5e971f821af4d085f3b4d6533db12a85c	@PHENOTYPICFEATURE$, retardation, adducted thumbs, spastic paraparesis, and @DISEASE$ (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	false
+a6364e573c1e1ac6777dbd6bae97fe62960e08a7	Prenatal molecular diagnosis of a severe type of @DISEASE$ (X-linked @PHENOTYPICFEATURE$).	has_symptom
+611a7fac76cf743d574e4655fd361baa920b9c1e	X-linked @PHENOTYPICFEATURE$, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to @DISEASE$, caused by mutations in the L1CAM gene.	has_symptom
+3229e0938e0775ecd9be91acef2f77048c2e2608	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, spasticity and @PHENOTYPICFEATURE$).	has_symptom
+03561874b218f94154388d47e7bfdf1ef77776f8	SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and @DISEASE$).	false
+2cfce3757e826972ed54cc9474263cfc553254e6	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and hydrocephalus).	false
+aa44b9a64e286c69e64bff649eff37f3efa56e6d	@DISEASE$: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and @PHENOTYPICFEATURE$ due to mutations in one single gene, L1.	has_symptom
+8ca0efc0dd2a87013c1b87209d4ee62c2f392d3f	The hemizygous L1CAM variant p.G452R, previously implicated in patients with @DISEASE$, was identified in patient 5, who presented with antenatal @PHENOTYPICFEATURE$.	has_symptom
+3f7667df7e9d20606f768fe64748f78e03ad7db7	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for @DISEASE$, a very rare inherited disorder characterized by corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, and @PHENOTYPICFEATURE$.	has_symptom
+e997b2bc97f83ade621799128b31a655eb097284	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very @DISEASE$ inherited disorder characterized by corpus callosum hypoplasia, @PHENOTYPICFEATURE$, adducted thumbs, spastic paraplegia, and hydrocephalus.	false
+4334b00562a8a2539d70f8422d597ea0c289a917	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very rare inherited disorder characterized by corpus callosum hypoplasia, @PHENOTYPICFEATURE$, adducted thumbs, spastic @DISEASE$, and hydrocephalus.	false
+4fe8703beb63684ed2556dcc59eb48b312be0efc	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very rare inherited disorder characterized by corpus callosum hypoplasia, @PHENOTYPICFEATURE$, adducted thumbs, spastic paraplegia, and @DISEASE$.	false
+b4df9908280381ba9238f775a3d3c07ec3247716	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for @DISEASE$, a very rare inherited disorder characterized by corpus callosum hypoplasia, @PHENOTYPICFEATURE$, adducted thumbs, spastic paraplegia, and hydrocephalus.	false
+8ff5835e1d62364dd315709f7c4d45bdd3fede55	X-linked @PHENOTYPICFEATURE$ is certainly the most prominent symptom of @DISEASE$.	has_symptom
+d3e94c8629ccbcac5a95474f9acedf9558a445bb	The authors report the results of a nationwide investigation of L1CAM gene mutations that was performed to improve the understanding of L1-mediated molecular mechanisms of X-linked @PHENOTYPICFEATURE$ and to establish neurorimaging criteria for this severe form of @DISEASE$.	has_symptom
+84d157e6f70756ef0b0a5d5872c70725c67ef7bd	In the group of SH patients, 29% (14/48) had a known cause of @PHENOTYPICFEATURE$ including chromosomal abnormalities, @DISEASE$, Marden-Walker syndrome, Walker-Warburg syndrome and hemifacial microsomia.	has_symptom
+7bd94d350c3ccf3577a81d521c288a8935ab2b5f	@DISEASE$ (DBMD) are X-linked conditions causing progressive muscle weakness, @PHENOTYPICFEATURE$, and cardiomyopathy in affected males.	has_symptom
+62f0ac7242406d9a8b254a5787856941cec8cdf9	@DISEASE$ (PVS) is characterized by iron deficiency anemia, upper esophageal stricture, cervical @PHENOTYPICFEATURE$, and glossitis.	has_symptom
+478fdb3148ad627097ad6476c9336c840c5c63b2	Three patients presented with @PHENOTYPICFEATURE$ and anemia and were diagnosed as having @DISEASE$.	has_symptom
+27bb16f8518bc2e7ca937ca978a362751202e3b3	Three patients presented with @DISEASE$ and @PHENOTYPICFEATURE$ and were diagnosed as having Plummer-Vinson syndrome.	false
+4b87bb0fa51880000888bdf2cc5ad54d98b8adb0	Three patients presented with dysphagia and @PHENOTYPICFEATURE$ and were diagnosed as having @DISEASE$.	false
+37850793d425afbfc96b1fba85ea66b32b4735e4	Lentigines, electrocardiographic abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormalities of genitalia, retarded growth, and deafness syndrome (@DISEASE$) is most often characterized by multiple lentigines and cardiac conduction defects.	has_symptom
+67ca96684a2bb68cc337832d460a110c64a6d7b4	Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and @PHENOTYPICFEATURE$ @DISEASE$ (multiple lentigines syndrome) is most often characterized by multiple lentigines and cardiac conduction defects.	false
+79652a7b4314910508a9d8fab82efcd034c1a396	Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is most often characterized by multiple lentigines and cardiac conduction defects.	false
+99b0f24b0bcdc09cdf77c4af6f029760f080c34c	Lentigines, electrocardiographic abnormalities, @DISEASE$, pulmonary stenosis, abnormalities of genitalia, retarded growth, and @PHENOTYPICFEATURE$ syndrome (multiple lentigines syndrome) is most often characterized by multiple lentigines and cardiac conduction defects.	false
+bb1f62c392e6f2e026c3e16694a4fa2893825cdc	Seven patients had vascular @PHENOTYPICFEATURE$, 7 had Alzheimer's disease, 2 had fronto-temporal degeneration, 2 had @DISEASE$ and 1 a probable diffuse Lewy bodies disease.	has_symptom
+3a400df683d09e39339a2cf0dcdaa097f124b0bf	Utilizing indexes from the Wechsler Adult Intelligence Scale and the Halstead-Reitan Battery, it was found that there was substantially more severe cognitive deficit in the @DISEASE$ patients than in the multiple sclerosis patients, and the level of impairment was similar between the Huntington's disease and cortical @PHENOTYPICFEATURE$ groups.	has_symptom
+b865265833a2d7934a144a7b2a57011ae1b3f270	Patients with @DISEASE$ develop a progressive but variable @PHENOTYPICFEATURE$.	has_symptom
+a3ebe8ffd3682e0786652858c5dda499b728212d	A comparison of cognitive function was made among patients with @DISEASE$, multiple sclerosis, and cortical @PHENOTYPICFEATURE$.	has_symptom
+57ae9800f855b205dd04e7ad96f21c218203ad47	TDP-43 or FUS/TLS misaccumulation seems central not just to ALS (where it is found in almost all instances of disease), but more broadly in neurodegenerative disease, including frontal temporal lobular @PHENOTYPICFEATURE$ (FTLD-U) and many examples of Alzheimer's or @DISEASE$.	has_symptom
+f48faf3b926f8c4bf33d5d4231f972df1df7c625	Neuropsychological similarities and differences among @DISEASE$, multiple sclerosis, and cortical @PHENOTYPICFEATURE$.	has_symptom
+45523cd7fdb66d7b97e66abbe54d1a065a0628c4	The search terms were alcohol-associated dementia, Alzheimer's disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, @DISEASE$, mixed @PHENOTYPICFEATURE$, neurodegenerative disorders, Parkinson's disease dementia, presenile dementia, traumatic brain injury, vascular dementia.	has_symptom
+f78c691d77c2e52c632eb914776d30219b23a1fd	The search terms were alcohol-associated dementia, Alzheimer's disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset @PHENOTYPICFEATURE$, frontotemporal lobar degeneration, @DISEASE$, mixed dementia, neurodegenerative disorders, Parkinson's disease dementia, presenile dementia, traumatic brain injury, vascular dementia.	has_symptom
+6714b3ed822974fdec3a59e29ece0c34b2263cd6	At various times, family members have carried diagnoses of Alzheimer's disease, @DISEASE$, Parkinson's disease, myoclonic epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	has_symptom
+c38bcb2d1549d15f88e19a0c72d4746b81b62668	At various times, family members have carried diagnoses of Alzheimer's disease, @DISEASE$, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+570adcee2a0e8e496118b9be15d8ba64d4ca2d03	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical @DISEASE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+21bca7965c15c519ee662c4abf6f27974d35a729	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, @DISEASE$ and Gerstmann-Str?ussler syndrome.	false
+75588597705f0d27d58136a78a100f14a5bba1f7	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler @DISEASE$.	false
+82afd3a3810c5c88d49e5345da3a46c7a729d0e3	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+5069bdf925561302e144fcfcbc128db310a94f67	Numerous other neurodegenerative illnesses have an associated dementia, including corticobasal degeneration, Creutzfeldt-Jakob disease, @DISEASE$, progressive supranuclear palsy, multiple system atrophy, Parkinson's disease @PHENOTYPICFEATURE$, and amyotrophic lateral sclerosis.	has_symptom
+677cf2c23c25bb291e6038f986722bad410933ff	@DISEASE$ is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and @PHENOTYPICFEATURE$, usually with onset in the fourth and fifth decades.	has_symptom
+1c658ae0fa1601c3a736b0bc561be9a8feb6c7f3	These include @PHENOTYPICFEATURE$, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, @DISEASE$, albinism, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	has_symptom
+afeb2215861ef116284402840cfe2351dc558240	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, @DISEASE$, and pontine tegmental cap dysplasia.	false
+3f62e01f1272660f75eb9b95ca558fe206eda191	These include @DISEASE$, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+93c7ecbeac5f13f23db688a89bf404064c8b79a9	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and @DISEASE$.	false
+ba84565413ddf6710f556c194ae6ae36c75e4204	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, @DISEASE$, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+06a12e43e77a6aab9493fbace8d5a9f18cef9aca	These include corpus callosum agenesis, L1 syndrome, @DISEASE$, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+00aeb4a20b2290c1b2ec7ca3a5bc806c2d0995fa	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, @DISEASE$, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+0d4f8a0ecd3c8a3dc9d43cfc61601c907aa3e219	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, @DISEASE$ type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+fbbf00368a6e5fccde946b0dcda70043a68335cf	Parsonage-Turner syndrome is a rare and painful @PHENOTYPICFEATURE$ that usually presents as @DISEASE$ and also has other nerve involvement.	has_symptom
+b02e60db8db5cfc4d4d29aa9bd69f1f251420099	Six of the patients with @DISEASE$ presented with @PHENOTYPICFEATURE$; four progressed to chronic renal failure.	has_symptom
+f054fdf8947ceeb7087ae63979bae006b852d8e1	Causes for fetal hyperechogenic kidneys were infantile polycystic kidney disease (IPKD, 10 cases), adult @DISEASE$ (APKD, 1 case), @PHENOTYPICFEATURE$ (PKD, 1 case) after postmortem histological examination.	has_symptom
+b72b66dae82c3c76566f452d2a1b898f04a82a5f	Causes for fetal hyperechogenic kidneys were infantile @DISEASE$ (IPKD, 10 cases), adult polycystic kidney disease (APKD, 1 case), @PHENOTYPICFEATURE$ (PKD, 1 case) after postmortem histological examination.	has_symptom
+b48b63eff2dc2f727b9b675b3d2c276a869a6d12	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	has_symptom
+e25a82265af5de6472fa85284d5c995cc9b32bb4	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+69fb925c49f6bdc0ac00caa6c31aeb8be510d1d4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+795f53474d4a2584dd949b544c08d3d7e80fa755	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d073e4e1273d1c719d1bd9ad7b7c1ba72d02fc6c	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6c0b5253534648cafad296fe0c97f1870dd7d1a9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cfd88b24a9293f70c83dd6dfdb528dbc425b5bb7	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+8ddd3de61688b5b9ac4dd116cd72c0d4df66ebe2	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e03d2e9f036864b184a0b0609bedae3ce668408e	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+38894498d312c83e97b443413ed72eee0fc4af86	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+5e1818eb96b64a9a2fe12e8efac5b09f2242fe4f	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+4f798dcac0cf695c2cdf76111da336bb2d81b6ae	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cb8caa8c097e0c4f6abc09c938a1d0b301246bb9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+bcd0bf01e766ee5738d4df0bdc40b9c3b5676621	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+9a083f7eb4880179810021100d310f0708c4f45a	Anoxic-@PHENOTYPICFEATURE$ have not previously been described in @DISEASE$.	has_symptom
+d08bd49a6f9e76d851f6c41b7d130a72a241b974	Compared with reference texts and reported studies of @DISEASE$, the incidences of cleft palate (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), @PHENOTYPICFEATURE$ (14 of 37), and hypopituitarism (four of 13) in the studied patients were increased.	has_symptom
+1d7b07ea9aaaad7afefbc22ab800b7a4a3308aba	Compared with reference texts and reported studies of @DISEASE$, the incidences of @PHENOTYPICFEATURE$ (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), seizures (14 of 37), and hypopituitarism (four of 13) in the studied patients were increased.	false
+8542c1705df65148df927e98844264222abd98cf	Compared with reference texts and reported studies of Brachmann-de Lange syndrome, the incidences of @PHENOTYPICFEATURE$ (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), @DISEASE$ (14 of 37), and hypopituitarism (four of 13) in the studied patients were increased.	false
+f6e882e478ac4e69fce73d04a16cc69cc52299d7	Compared with reference texts and reported studies of Brachmann-de Lange syndrome, the incidences of @PHENOTYPICFEATURE$ (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), seizures (14 of 37), and @DISEASE$ (four of 13) in the studied patients were increased.	false
+d9c80aab7fbde7fc2461b7a2a42173fb4f2ee7c9	Anoxic-@PHENOTYPICFEATURE$ in @DISEASE$: case report of epileptic seizures induced by obstructive apnea.	has_symptom
+1897c128e6e925cd4c0d97c24b54943e77d3ed04	Anoxic-epileptic seizures in @DISEASE$: case report of @PHENOTYPICFEATURE$ induced by obstructive apnea.	has_symptom
+3b7afbb5f2c0fb0e295cd8a4bd3c1a65bbf20e17	Mutations in NIPBL are the most frequent cause of @DISEASE$ (CdLS), a developmental disorder encompassing several neurological defects, including intellectual disability and @PHENOTYPICFEATURE$.	has_symptom
+ad2a59d75dbe79a4a8cdb8e08aa190c230623e32	Mutations in NIPBL are the most frequent cause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological defects, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+846be0cc78a8ca29151b62c3664256b0f91fd4dc	Mutations in NIPBL are the most frequent cause of @DISEASE$ (CdLS), a developmental disorder encompassing several neurological defects, including @PHENOTYPICFEATURE$ and seizures.	false
+6823d80b875e99620c14fa50995dd8e6468da875	We describe @PHENOTYPICFEATURE$ including status epilepticus provoked by recurrent obstructive apnea in a child with @DISEASE$.	has_symptom
+589d75e87a7a569403c4831feb8b63f2e5b37946	The dysmorphic abnormalities associated with @DISEASE$ may be expanded to include cleft palate, nuchal webbing, and hypospadias, while the presence of @PHENOTYPICFEATURE$ and hypopituitarism extend the functional abnormalities found in these patients.	has_symptom
+5dd54462d27837d06f9886ba5f052d363cc327fd	The dysmorphic abnormalities associated with @DISEASE$ may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of seizures and hypopituitarism extend the functional abnormalities found in these patients.	false
+b4717d640ea4b3f5bfb8355e5e80d91ef24e8044	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of @DISEASE$ and hypopituitarism extend the functional abnormalities found in these patients.	false
+df068bdd7d38fe79e93167b66d62013c31b9f880	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of seizures and @DISEASE$ extend the functional abnormalities found in these patients.	false
+e85f8b55c4f8d64ed205154f7c4cf5e8664fe43f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	has_symptom
+2c644e5387a1fe63b22e003c4f7bc1e6b5b5d0b8	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	has_symptom
+4dc5552732c333448a363e529d931d16ecb09376	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+704609e590576e417ec5ffc251d31f209f51a965	@DISEASE$ (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+c90f4657d54fd36f8dcd0379fc795aa1e69a8c24	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2e1588c501d4e18da9109439b2bca3763b6d08ae	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+236539e3c602121a8fa959fbcbe72c879c63596e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+f7f6f15d14bd3d8f4a12f55f03af4372d1cfa7c0	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and @DISEASE$.	false
+92f995a07ebb1915f7629857134508a1ef75d900	@DISEASE$ is a rare disease combining @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis.	has_symptom
+f8eacb3a839e9ff90440ac8ed206492270494ce1	Anhidrotic ectodermal dysplasia is a rare disease combining hypodontia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f6f7585704155276ac301fdd3caa794c21c2f9a1	@DISEASE$ is a rare disease combining hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis.	false
+e02cfeeefa72cc742b75c0ebbd9f5787ae0be61f	Anhidrotic ectodermal dysplasia is a rare disease combining @DISEASE$, @PHENOTYPICFEATURE$, and hypohidrosis.	false
+7644d280711c960a3a4258cbc9dd4e23a4955af1	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by hypotrichosis, @PHENOTYPICFEATURE$, onychodysplasia and, as the most striking feature, hypohidrosis.	has_symptom
+c16507218cd853283f5c3e42108cd5fa63f9139d	@DISEASE$ (HED) is characterized by hypotrichosis, @PHENOTYPICFEATURE$, onychodysplasia and, as the most striking feature, hypohidrosis.	has_symptom
+aa50e6a1670356189eabb2b75e39e73335f07cf7	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis.	false
+6509390d3881a6693b35133713a7b4fb56f6198f	@DISEASE$ (HED) is characterized by @PHENOTYPICFEATURE$, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis.	false
+98c1b449525dfee726dcd76a133cde31778ad052	Hypohidrotic ectodermal dysplasia (HED) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, onychodysplasia and, as the most striking feature, hypohidrosis.	false
+0af9dbebab229dab8e0b3e06cfcf7f470b6f3f6d	Hypohidrotic ectodermal dysplasia (HED) is characterized by @PHENOTYPICFEATURE$, hypodontia, onychodysplasia and, as the most striking feature, @DISEASE$.	false
+018cd99cbf770ae36af017e7e553a3817c99942d	@DISEASE$ (HED) is characterized by hypohidrosis, @PHENOTYPICFEATURE$, sparse hair, and characteristic facial features.	has_symptom
+80631b058fde81fe53840861af1c2a5ea5cf5989	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by hypohidrosis, @PHENOTYPICFEATURE$, sparse hair, and characteristic facial features.	has_symptom
+92af9f9579df0272e6fed263f1429fad0cb58493	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, hypodontia, sparse hair, and characteristic facial features.	false
+ec262ffe119d612a1a16f07d39a131e902ccfdbf	Hypohidrotic ectodermal dysplasia (HED) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, sparse hair, and characteristic facial features.	false
+1a93464c8203f34c3b09f47fe87adc48a299c12d	@DISEASE$ (HED) is characterized by @PHENOTYPICFEATURE$, hypodontia, sparse hair, and characteristic facial features.	false
+b7be198cdeec465a8f6bdfd95721b159c15065d4	@DISEASE$ (HED) is a syndrome characterized by @PHENOTYPICFEATURE$, hypotrichosis, and partial or total ecrine sweat gland deficiency.	has_symptom
+4cd78b4eee9e727a0fe1e7ada1766bf089d866bb	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a syndrome characterized by @PHENOTYPICFEATURE$, hypotrichosis, and partial or total ecrine sweat gland deficiency.	has_symptom
+17990e321a4d96bd92dcd84121ed482d4a9a5d96	@DISEASE$ (HED) is a syndrome characterized by hypodontia, @PHENOTYPICFEATURE$, and partial or total ecrine sweat gland deficiency.	false
+42265bbd736b35dab373c3174935de6e04ef88df	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a syndrome characterized by hypodontia, @PHENOTYPICFEATURE$, and partial or total ecrine sweat gland deficiency.	false
+aa3d5669b2f83780189d3891ebb8d9f4df406e4e	Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, and partial or total ecrine sweat gland deficiency.	false
+92f995a07ebb1915f7629857134508a1ef75d900	@DISEASE$ is a rare disease combining @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis.	has_symptom
+f8eacb3a839e9ff90440ac8ed206492270494ce1	Anhidrotic ectodermal dysplasia is a rare disease combining hypodontia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f6f7585704155276ac301fdd3caa794c21c2f9a1	@DISEASE$ is a rare disease combining hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis.	false
+e02cfeeefa72cc742b75c0ebbd9f5787ae0be61f	Anhidrotic ectodermal dysplasia is a rare disease combining @DISEASE$, @PHENOTYPICFEATURE$, and hypohidrosis.	false
+b99d29e688c1d50271aa7f0ed600cefc1a6be4e1	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	has_symptom
+40dc926c397c0abbb637159512cee89f7975ddec	@DISEASE$ (HED) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	has_symptom
+4ab7c2f0368e7e439f1d0a91a738dd9e5d808d72	Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by @PHENOTYPICFEATURE$, @DISEASE$ and hypohidrosis.	false
+3dde54ed1847eaab22326a879657b7eb77a9f1fd	@DISEASE$ (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	false
+225fc6d0cba9bc35b433463bc8e9c9d87b4fa588	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	false
+46596e70c7617eb08915df77abb5724bb5bb240c	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	false
+86e86dfef81c37e3268046d9cc3d491060e49e45	@DISEASE$ (HED) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	false
+390d83625af1b1c2d0ece93bfa2f508f1b72efdc	Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+543a85f6715c64ce2911a0fbece5d9a2b9f8b71a	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	false
+118b4a4a3c148463ffc5fa130e94cec4d7515ba7	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	false
+e85f8b55c4f8d64ed205154f7c4cf5e8664fe43f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	has_symptom
+2c644e5387a1fe63b22e003c4f7bc1e6b5b5d0b8	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	has_symptom
+4dc5552732c333448a363e529d931d16ecb09376	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+704609e590576e417ec5ffc251d31f209f51a965	@DISEASE$ (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+c90f4657d54fd36f8dcd0379fc795aa1e69a8c24	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2e1588c501d4e18da9109439b2bca3763b6d08ae	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+236539e3c602121a8fa959fbcbe72c879c63596e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+f7f6f15d14bd3d8f4a12f55f03af4372d1cfa7c0	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and @DISEASE$.	false
+fd54ddbd5036a61601a047f5090c3c492d67567d	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	has_symptom
+38ee8fe6df3e0d6a1c74cc3c6fb12d7051b52599	@DISEASE$ (HED) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	has_symptom
+348dc61abcee95c058b56a9c9c68e6ed8c646a98	Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by hypotrichosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2b6ae4ec569304e2f60461d11c1e7870cc5d07d0	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+cbb162bd22bf658745e55a44cc2aee7ca4010711	@DISEASE$ (HED) is a rare genetic disorder characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+151d923b5ba4d5049135c19db878fd176f897e33	Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypodontia.	false
+65664ec26819aac6b7d66394b393b31fb26bc2c2	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare genetic disorder characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+26f2aeb474612bc0a40a377145a8b4974ad927d9	@DISEASE$ (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and @PHENOTYPICFEATURE$.	has_symptom
+f2952c31e2eb8b04f89669a8b1afd10fc1f0d61e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and @PHENOTYPICFEATURE$.	has_symptom
+b74275872936f7e31b6ff426410f7a5fbf301f70	Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+474df4a04ef13d62cbebce1fcf36f0fe27c74bbf	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+8a26ebc401d03d080621530984ec46acc354e413	@DISEASE$ (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+c62f9e6af51eaaa64af877bba4c27de864ad3d52	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+ff3e1f8252412597f0a05313b29c0cd955f4bbdf	The clinical checklist developed included poor feeding, increased body mass index, and @PHENOTYPICFEATURE$, in addition to the typical clinical features of @DISEASE$, and was able to distinguish between the two groups with 80% sensitivity and 70% specificity.	has_symptom
+782a1aa9b43d33170528da44328881929b406594	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, @PHENOTYPICFEATURE$, palatal abnormality, CHD, and ureteral anomalies.	has_symptom
+518f6b3f0b3f38ccc1e1ad9ee772f9e33339ce0b	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @PHENOTYPICFEATURE$, hypertelorism, palatal abnormality, @DISEASE$, and ureteral anomalies.	false
+824bb38e90e405cec2b481adea3e2bcdde5971c9	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e3623e84ec211358f5daf8af5001687d70c3e5d6	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of @DISEASE$ comprising typical acral synostoses combined with @PHENOTYPICFEATURE$, hypertelorism, palatal abnormality, CHD, and ureteral anomalies.	false
+a3f30125db14cb4329846eb5e9c1b19d0f6b81c6	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of @DISEASE$ comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+c2f8da401e9553a92ffe0b4230d5d3d481d8f439	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @PHENOTYPICFEATURE$, hypertelorism, palatal abnormality, CHD, and ureteral anomalies.	false
+fb205298e23297c0d02a9fd595d1d373c3c2c07e	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, @DISEASE$, and ureteral anomalies.	false
+53ef67c60a374fea3d8283437066e88d53c8f3c3	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of @DISEASE$ comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+e1bdd86547e39670a57382a68ffe3fb13326c6a9	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, @DISEASE$, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+b92e9a3be47f8934c79e9532f4367cdd103aa4e9	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @PHENOTYPICFEATURE$, @DISEASE$, palatal abnormality, CHD, and ureteral anomalies.	false
+af910720bf26838aad24e35c5c02215a21b08c32	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+38287edbc28d148631aedfc7bca18e275ff1a50b	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, @DISEASE$, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+f9fc9668b3d14c8a8b226a6428be2de6157b55e6	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+ba367c82ea8a74396b01d42403d9e6cc53beb9f1	Autosomal recessive @DISEASE$ (HMGCS2D) is characterized by hypoketotic hypoglycemia, @PHENOTYPICFEATURE$, lethargy, and hepatomegaly after periods of prolonged fasting or illness.	has_symptom
+0e5197d06d2a78f2ed137c682df74deed9807798	The @DISEASE$, or acute febrile neutrophilic dermatosis, is rare and has characteristic clinical, physical, and pathologic findings: abrupt onset of pyrexia, elevated neutrophil count, tender @PHENOTYPICFEATURE$ skin lesions, and a diffuse infiltrate of mature neutrophils in the reticular dermis with edema in the papillary dermis.	has_symptom
+36f05a8e0138299a8d42ec88a6acaf59ed08fd19	The Sweet syndrome, or acute febrile neutrophilic dermatosis, is rare and has characteristic clinical, physical, and pathologic findings: abrupt onset of pyrexia, elevated neutrophil count, tender @DISEASE$ skin lesions, and a diffuse infiltrate of mature neutrophils in the reticular dermis with @PHENOTYPICFEATURE$ in the papillary dermis.	false
+f5254ffac34a269445573a4346e93fcafc594442	The @DISEASE$, or acute febrile neutrophilic dermatosis, is rare and has characteristic clinical, physical, and pathologic findings: abrupt onset of pyrexia, elevated neutrophil count, tender erythematous skin lesions, and a diffuse infiltrate of mature neutrophils in the reticular dermis with @PHENOTYPICFEATURE$ in the papillary dermis.	false
+c6ee2c20811d271702aa0b3ecbb8ea52a177a1ae	@DISEASE$ (SS) is a rare inflammatory process presenting with painful @PHENOTYPICFEATURE$ skin eruptions, accompanied by fever and neutrophilia.	has_symptom
+3c4907b0e76a17369d52f560aff121f4d2f2cd2f	Sweet syndrome (SS) is a rare inflammatory process presenting with painful @DISEASE$ skin eruptions, accompanied by @PHENOTYPICFEATURE$ and neutrophilia.	false
+d751856bafa8045bd8c7c5dfb5837633bbfce9b3	@DISEASE$ (SS) is a rare inflammatory process presenting with painful erythematous skin eruptions, accompanied by @PHENOTYPICFEATURE$ and neutrophilia.	false
+2a5799005e3fa78cd29296ba943f162cac9763bb	Acute febrile neutrophilic dermatosis (AFND; @DISEASE$) is characterized by a constellation of symptoms and findings: fever, neutrophilia, and tender @PHENOTYPICFEATURE$ skin lesions that typically show an upper dermal infiltrate of mature neutrophils.	has_symptom
+51b2f2e8f72ed82ce3ddcaa8b72dce871fef995c	@DISEASE$ (SS), a paraneoplastic syndrome characterized by fever, neutrophilia, multiple @PHENOTYPICFEATURE$ painful plaques, and a dense dermal neutrophilic infiltration, has a known association with hematologic malignancies such as acute myelogenous leukemia.	has_symptom
+e69407656e5d4d9818929eb29f11bdd8b1f3eda2	Sweet syndrome (SS), a paraneoplastic syndrome characterized by @PHENOTYPICFEATURE$, neutrophilia, multiple @DISEASE$ painful plaques, and a dense dermal neutrophilic infiltration, has a known association with hematologic malignancies such as acute myelogenous leukemia.	false
+85f8a5e2257472cfb8de0779cfa73d044f71b032	Sweet syndrome (SS), a @DISEASE$ characterized by @PHENOTYPICFEATURE$, neutrophilia, multiple erythematous painful plaques, and a dense dermal neutrophilic infiltration, has a known association with hematologic malignancies such as acute myelogenous leukemia.	false
+1b424a4852a304c38c035f23748112ed9e68d1d6	Sweet syndrome (SS), a paraneoplastic syndrome characterized by @PHENOTYPICFEATURE$, neutrophilia, multiple erythematous painful plaques, and a dense dermal neutrophilic infiltration, has a known association with hematologic malignancies such as @DISEASE$.	false
+bb27b22e31f883f8c87476c26173b410c11831d4	@DISEASE$ (SS), a paraneoplastic syndrome characterized by @PHENOTYPICFEATURE$, neutrophilia, multiple erythematous painful plaques, and a dense dermal neutrophilic infiltration, has a known association with hematologic malignancies such as acute myelogenous leukemia.	false
+2294921d5eaab4fe27c5880b92287b2dce338196	Sweet syndrome (SS), a paraneoplastic syndrome characterized by @PHENOTYPICFEATURE$, neutrophilia, multiple erythematous painful plaques, and a dense dermal neutrophilic infiltration, has a known association with @DISEASE$ such as acute myelogenous leukemia.	false
+b1847dead82d65459d221c167207eb3c9d5d6cbb	@DISEASE$ is a rare skin condition characterised by fever, neutrophilia, and tender @PHENOTYPICFEATURE$ skin lesions and has been reported to occur in association with anti-neutrophil cytoplasmic antibodies (ANCA) as well as complicate treatment with azathioprine therapy.	has_symptom
+38affc2484d288a5743d8c4fb075bbdc1f1e5d03	@DISEASE$ is a rare skin condition characterised by @PHENOTYPICFEATURE$, neutrophilia, and tender erythematous skin lesions and has been reported to occur in association with anti-neutrophil cytoplasmic antibodies (ANCA) as well as complicate treatment with azathioprine therapy.	false
+c90754e5c7a00fa62f2133f5a76cfc89fc34a41a	Sweet syndrome is a rare skin condition characterised by @PHENOTYPICFEATURE$, neutrophilia, and tender @DISEASE$ skin lesions and has been reported to occur in association with anti-neutrophil cytoplasmic antibodies (ANCA) as well as complicate treatment with azathioprine therapy.	false
+542042528c77e8cf8b9a0c9203e28d193bfe1c08	@DISEASE$, also referred to as acute febrile neutrophilic dermatosis, is characterized by pyrexia, elevated neutrophil count, painful @PHENOTYPICFEATURE$ cutaneous lesions that have an infiltrate of mature neutrophils typically located in the upper dermis, and prompt clinical improvement following the initiation of systemic corticosteroid therapy.	has_symptom
+5ac0e1048daeae10a23096bab02b8954faac28ea	Sweet's syndrome or @DISEASE$ is a rare disease characterized by painful violaceous @PHENOTYPICFEATURE$ skin lesions, fever, neutrophilic leukocytosis and dense dermal neutrophilic inflammatory infiltrate.	has_symptom
+008ff54b29b388de16469c30c7bb8a7de07b71a7	Sweet's syndrome or @DISEASE$ is a rare disease characterized by painful violaceous erythematous skin lesions, @PHENOTYPICFEATURE$, neutrophilic leukocytosis and dense dermal neutrophilic inflammatory infiltrate.	false
+8d1713d4045bd9851638f79415a9b91999593fa6	Sweet's syndrome or acute febrile neutrophilic dermatosis is a rare disease characterized by painful violaceous @DISEASE$ skin lesions, @PHENOTYPICFEATURE$, neutrophilic leukocytosis and dense dermal neutrophilic inflammatory infiltrate.	false
+0a0c8c7c7f10e0ec0b397beee7e45a4e10482d0f	Sweet's @DISEASE$ or acute febrile neutrophilic dermatosis is a rare disease characterized by painful violaceous erythematous skin lesions, @PHENOTYPICFEATURE$, neutrophilic leukocytosis and dense dermal neutrophilic inflammatory infiltrate.	false
+eb13a88319bde1df392adb0de4f709267f846c51	@DISEASE$ (acute febrile neutrophilic dermatosis) is characterized by fever, neutrophilic leukocytosis, and abrupt appearance of painful @PHENOTYPICFEATURE$ nodules and plaques, particularly on the face, neck, and limbs.	has_symptom
+01bad6bd3edeff556538c919bee201388a98d7e2	@DISEASE$ (acute febrile neutrophilic dermatosis) is characterized by @PHENOTYPICFEATURE$, neutrophilic leukocytosis, and abrupt appearance of painful erythematous nodules and plaques, particularly on the face, neck, and limbs.	false
+f3d58d7d1b9cc953f31eb5c3fedc277c1ae74626	Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized by @PHENOTYPICFEATURE$, neutrophilic leukocytosis, and abrupt appearance of painful @DISEASE$ nodules and plaques, particularly on the face, neck, and limbs.	false
+e7aee96db5ec129bfd306f63bb143e81ea9f6571	Neutrophilic dermatosis (ND; @DISEASE$ and pyoderma gangrenosum) was the most prevalent AIM (n?=?24 36%]), followed by Behcet disease (10 [15%]), rheumatoid arthritis (9 [13%]), vasculitis (8 [12%]), myositis (3 [4%]), spondyloarthropathy (3 [4%]), and systemic lupus @PHENOTYPICFEATURE$ (2 [3%]).	has_symptom
+a9803d6441b8eb40e48ab56dd10e8eddc603793e	@DISEASE$ or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, @PHENOTYPICFEATURE$, and scoliosis.	has_symptom
+f6441425b4a22e0bb4ac5a055506c9ecd9545a68	Beals-Hecht syndrome or @DISEASE$ (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, @PHENOTYPICFEATURE$, and scoliosis.	has_symptom
+a5b0d2262111e3abf7a5f8622852587b80f42b0f	Congenital contractural arachnodactyly (CCA, @DISEASE$) is an autosomal-dominant connective tissue disorder characterized by multiple @PHENOTYPICFEATURE$, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.	has_symptom
+605274899352fbb162747c4fbc7732ef056af3c7	Iris coloboma, blepharophimosis, arachnodactyly, @PHENOTYPICFEATURE$: @DISEASE$ and Van den Ende-Gupta syndrome phenotypic similarities.	has_symptom
+9c083b72b7e4b27db26a6d56ba4ddab81617952b	People with @DISEASE$ typically have a marfanoid habitus, @PHENOTYPICFEATURE$, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.	has_symptom
+d8529bbdf1014b05ba1b1df38a781dc1d658326f	Congenital contractural arachnodactyly (@DISEASE$) is a rare autosomal dominantly inherited connective tissue disorder characterized by @PHENOTYPICFEATURE$, arachnodactyly, crumpled ears, and mild muscular hypoplasia.	has_symptom
+226903963cf8e78ed27b48371f860ca78b16751c	Congenital contractural arachnodactyly (CCA) or @DISEASE$ (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, @PHENOTYPICFEATURE$, and scoliosis.	has_symptom
+460ad911050c02b307b071900589a5448d51ec37	Significantly, the mother exhibited a classic CCA phenotype with arachnodactyly, @PHENOTYPICFEATURE$, and abnormal pinnae, whereas her daughter exhibited a markedly more severe @DISEASE$ phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy.	has_symptom
+5d3f3c45be5b350af95f5ec0ec730a2df7957256	Significantly, the mother exhibited a classic @DISEASE$ phenotype with arachnodactyly, @PHENOTYPICFEATURE$, and abnormal pinnae, whereas her daughter exhibited a markedly more severe CCA phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy.	has_symptom
+5d35f1f22269360e69cdfa65cc5b85304745f199	Congenital contractural arachnodactyly (@DISEASE$) is an autosomal dominantly inherited connective tissue disorder characterized by multiple @PHENOTYPICFEATURE$, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.	has_symptom
+da733b84e47c40e04a07c23e7a9accd813f3b072	@DISEASE$ is an autosomal-dominant connective tissue disorder, characterized by multiple @PHENOTYPICFEATURE$, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia.	has_symptom
+d97321f40f2c5038ca7d94397335fb82be3613dd	The patient not only demonstrated typical characteristics of @DISEASE$ such as @PHENOTYPICFEATURE$ and crumpled ears, but also demonstrated aortic dissection.	has_symptom
+c67e015d7b03b93f837c3939707074867c4697f2	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	has_symptom
+853d3c480938d8c7fc9680497f95ddf498c1cfd7	Liddle's syndrome or pseudoaldosteronism is a rare @DISEASE$ mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+c93dfcab4592d167752483979b06c374da3d4875	Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, hypokalemia and @DISEASE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+c3e5fb8026025d5c75e26dfcd26e63ac1d27426d	Liddle's syndrome or pseudoaldosteronism is a rare @DISEASE$ mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @PHENOTYPICFEATURE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+4bf271200ca6deedd92c60a2f035c69e7ebeaf0a	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @PHENOTYPICFEATURE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+168f8bcbf08260a0b736df1123109100ca4f49eb	Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @PHENOTYPICFEATURE$ and @DISEASE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+8793d4d63b0601b2c1396d2bfc9d0b4039478006	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+d3e7632fadf0cf01d75db4e7dcd569d46f42844e	@DISEASE$, an uncommon form of hyporeninemic @PHENOTYPICFEATURE$: functional and histopathological studies.	has_symptom
+34bdece77c03d7c9b588ec598514aa1348953edb	On admission, hypertension, spironolactone-resistant hypokalemia (2.43?mEq/l), hyporeninemic @PHENOTYPICFEATURE$, and metabolic alkalosis, which suggested @DISEASE$, were observed.	has_symptom
+08ff7a63f10b1c6fc81589c8a1b7094d2fe8dbdc	Repetitive behavior in @DISEASE$: parallels with @PHENOTYPICFEATURE$ spectrum phenomenology.	has_symptom
+b1bb845e3c20152c431f82dc895fc885012edd0e	A number of genetic studies have begun to reveal how epigenetic deregulation results in neurodevelopmental disorders such as mental retardation, @PHENOTYPICFEATURE$, @DISEASE$ and Rett syndrome.	has_symptom
+2ddd6e8dd31bfd2322a0e506f8c2c741f61a7894	A number of genetic studies have begun to reveal how epigenetic deregulation results in neurodevelopmental disorders such as @PHENOTYPICFEATURE$, autism, Rubinstein-Taybi syndrome and @DISEASE$.	false
+dce6bfb78995cc6ff0a3c7614e226f3a17fd1359	A number of genetic studies have begun to reveal how epigenetic deregulation results in neurodevelopmental disorders such as @PHENOTYPICFEATURE$, @DISEASE$, Rubinstein-Taybi syndrome and Rett syndrome.	false
+fbea0fc4acf6802ad4eb17b2b15950a3ef47ae52	A number of genetic studies have begun to reveal how epigenetic deregulation results in neurodevelopmental disorders such as @PHENOTYPICFEATURE$, autism, @DISEASE$ and Rett syndrome.	false
+7c9d5de3ff9743475a517dbbb0e2e994670e8bdc	We have identified various neurological abnormalities in this mouse model of Rett @DISEASE$ which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in @PHENOTYPICFEATURE$ without the confounding effects of seizures, chronic hypoventilation, or other Rett syndrome associated symptoms.	has_symptom
+c3ef6190e2b41400fbb1b8a4caeda2ec93954839	We have identified various neurological abnormalities in this mouse model of Rett syndrome/X-linked mental retardation which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in @DISEASE$ without the confounding effects of @PHENOTYPICFEATURE$, chronic hypoventilation, or other Rett syndrome associated symptoms.	false
+6d73fe9e581e207e456a373f07ae39b8685df362	We have identified various neurological abnormalities in this mouse model of Rett @DISEASE$ which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in mental retardation without the confounding effects of @PHENOTYPICFEATURE$, chronic hypoventilation, or other Rett syndrome associated symptoms.	false
+1d4eba33fa665d943c8ea280c1a9de369ea8ad61	Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of @DISEASE$ [X-linked alpha thalassemia/@PHENOTYPICFEATURE$ (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia].	has_symptom
+ddf197cc2d46123d5bd57bef4f5fe6899fb2233d	Other @PHENOTYPICFEATURE$ disorders are also linked to the disruption of genes involved in epigenetic mechanisms; such disorders include alpha thalassaemia/@DISEASE$, Rubinstein-Taybi syndrome, and Coffin-Lowry syndrome.	has_symptom
+474fbf53d51586ea6d77aceb59e028c72a71436e	Non-@DISEASE$ (MRX) is a heterogeneous group of conditions in which all patients have @PHENOTYPICFEATURE$ as the only constant phenotypic feature.	has_symptom
+6dc97d5e0a7fe9161f019c2b619a0907bbfd81dd	Non-@DISEASE$ (MRX) is a frequent cause of inherited @PHENOTYPICFEATURE$.	has_symptom
+4e32adeef8072487eaac83a1949070c12e5a155b	FRAXE fragile site associated @PHENOTYPICFEATURE$ (FRAXE MR) belongs to a group of non-@DISEASE$.	has_symptom
+028d14b0765abfdb65c0b11ae71e629e978c0479	On the incidence of fits and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a922d259b9d5b53b9bae9ff46739652a86e85d37	Tuberous sclerosis (@DISEASE$) is an autosomal dominant disorder characterized by seizures, @PHENOTYPICFEATURE$, and hamartomatous lesions.	has_symptom
+f2be7b4cf94012aefbb0c694fc573bc3e665d9d4	@DISEASE$ (TSC) is an autosomal dominant disorder characterized by seizures, @PHENOTYPICFEATURE$, and hamartomatous lesions.	has_symptom
+2ce1bec78e2a0712d3295932d936b05bc2bfd0d8	@DISEASE$ (TSC) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, mental retardation, and hamartomatous lesions.	false
+954a8f06281343f68e02c8124a6ee33707ed43e2	Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$ lesions.	false
+8026681c9567e9239c6df80b74942532013a36f1	Tuberous sclerosis (@DISEASE$) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, mental retardation, and hamartomatous lesions.	false
+f3c69d540656024d7426d396877e4ba7498ee25e	Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and hamartomatous lesions.	false
+4d5efd4cbeaa149c91ee637e52c1aaaf4bc7c014	@PHENOTYPICFEATURE$ was present in 57% of individuals with @DISEASE$.	has_symptom
+db547f9f8b79c7fe9e02a015e55376fa5bf5b60b	@DISEASE$ is characterized by epilepsy, @PHENOTYPICFEATURE$, and adenoma sebaceum.	has_symptom
+64c53fd0d8c853748276b723f4b18df7409da18b	@DISEASE$ (TSC) is clinically marked by a triad of adenoma sebaceum, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+dbdb3cfeafae4272aa0222575302ae67b57b053e	Tuberous Sclerosis (@DISEASE$) is clinically marked by a triad of adenoma sebaceum, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+412ff1bb9d69d3b93957616fe1b0e8838b5b2558	Neurological manifestations in @DISEASE$ patients include epilepsy, @PHENOTYPICFEATURE$, and autistic features.	has_symptom
+287cc0ba5a09777a0e1dc092febdbf92acd19582	@DISEASE$ is associated with seizures and @PHENOTYPICFEATURE$.	has_symptom
+4d258963982c089a85074349232133d603e2a8c6	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+106f93652536a78dee7b9da84b7323b1e1c467e3	Tuberous sclerosis is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cf5fff0c69697b867d4353ae810d2efb4310225e	Her past medical history was significant for @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+25c2f421896e2f44aa2662bd247bc7c7524ed782	@DISEASE$ is characterized by epilepsy, @PHENOTYPICFEATURE$ and adenoma sebaceum.	has_symptom
+0be6d1e371d96b3972bd2a299fffcf161727ecf3	Psychotic episodes and epilepsy can occur without @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+4b0589df751d3ceec82781c4e60de4ec19ac0eea	A 71-year-old man developed clinical signs of @DISEASE$ including dysarthria, @PHENOTYPICFEATURE$, palatal and oral mandibular fasciculations, lower-extremity weakness, gynecomastia, and testicular atrophy.	has_symptom
+16c083fdb1add5d2716a6d528659248f4dd6f0b0	Adrenal @DISEASE$ (GN) is a benign @PHENOTYPICFEATURE$ of retro-peritoneum that is presented as an incidentaloma.	false
+c0ac0cf10f2219844de973196e6fba25969534ac	In this study brain tumors developing with @DISEASE$ were biologically benign; total transcortical tumor removal permanently relieved the attending cerebral @PHENOTYPICFEATURE$ and achieved prolonged survival without notable functional impairment.	has_symptom
+0a6093378dd7b9e41c537a1ffe671f2b921b4ca8	In this study brain tumors developing with @DISEASE$ were biologically benign; total transcortical @PHENOTYPICFEATURE$ removal permanently relieved the attending cerebral hypertension and achieved prolonged survival without notable functional impairment.	false
+fa08681bb8be26b99729bd33388fe951c2628192	In this study @DISEASE$ developing with tuberous sclerosis were biologically benign; total transcortical @PHENOTYPICFEATURE$ removal permanently relieved the attending cerebral hypertension and achieved prolonged survival without notable functional impairment.	false
+d13f5405d63274c267eea6ed25595bd960592ed3	In this study brain tumors developing with tuberous sclerosis were biologically benign; total transcortical @PHENOTYPICFEATURE$ removal permanently relieved the attending cerebral @DISEASE$ and achieved prolonged survival without notable functional impairment.	false
+87f4324f4e2c68ae2180b276475a0d4ccb43b2dd	@PHENOTYPICFEATURE$, attenuation of the oscillatory potentials (OPs) of the electroretinogram (ERG), and enlargement of corneal endothelial cells, have been reported in patients with @DISEASE$ (SCA1).	has_symptom
+c4500dace9642a336f9d1041fe2768bb68b58978	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$ in Nigeria.	has_symptom
+5a94b4fab18063126958f2ed9fed54943320aec3	Neonatal @DISEASE$ presenting with intractable @PHENOTYPICFEATURE$.	has_symptom
+412e5e600a09d3cd5cc2be1f9293ce97be7cb3b0	Clinically silent @PHENOTYPICFEATURE$ in a neonate with @DISEASE$.	has_symptom
+6697803e41bea6d9b151a615d5fda6d98e314c26	Surgical management and @PHENOTYPICFEATURE$ outcome in patients with @DISEASE$.	has_symptom
+ca4bd3da857282018190b76677b27a83195baf77	Rotatory @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+f85f47e4cd3712fddcbab2c4ba07acc9096bf3a8	[Case of @DISEASE$ with gyratory @PHENOTYPICFEATURE$].	has_symptom
+4e8c07ce813cf263c74822b7c13f56837c02dc12	@DISEASE$ presenting with late onset @PHENOTYPICFEATURE$ and scrotal angiofibromas.	has_symptom
+f345b45e01ccfce0e2f03e0019265bf4c8b296e1	For many patients with @DISEASE$, partial-onset @PHENOTYPICFEATURE$ are prominent.	has_symptom
+d8465256c340c2c8991d99b90c4fa99eba67a3c1	@PHENOTYPICFEATURE$ and intellectual disability associated with @DISEASE$.	has_symptom
+8f9adfb5a28c098d403dee64f72bd3a4f44a90f2	Most @DISEASE$ patients exhibit @PHENOTYPICFEATURE$, usually starting in early childhood.	has_symptom
+46c574245b6e3230ee58e62c77e117631c8083af	We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and @PHENOTYPICFEATURE$, the possibility of @DISEASE$ should be considered.	has_symptom
+cc1197ac952bbb7663dc69f5b4f1ed28a73ab86a	We emphasize that if a patient has unusual findings, such as ichthyosis, @DISEASE$, hepatomegaly, splenomegaly, cirrhosis, @PHENOTYPICFEATURE$, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.	false
+026c0876d18ca37b0cfd4cbdc106ea55be83eb94	We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, @PHENOTYPICFEATURE$, keratopathy, @DISEASE$, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.	false
+f9f64bec32e5cf4d1dcde4d118fd124002c017f6	We emphasize that if a patient has unusual findings, such as @DISEASE$, hearing loss, hepatomegaly, splenomegaly, cirrhosis, @PHENOTYPICFEATURE$, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.	false
+4efd19eafd2b8a95a00448706b7648932fdf7d1b	We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, @PHENOTYPICFEATURE$, keratopathy, myopathy, and mental retardation, the possibility of @DISEASE$ should be considered.	false
+1e48aed6a01da60e77fc9d31f4182cb3f80d3bed	We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, @DISEASE$, @PHENOTYPICFEATURE$, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.	false
+c41ec8c2bd04f2e20abc69e30dceecdeeff31bfb	We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, @PHENOTYPICFEATURE$, keratopathy, myopathy, and @DISEASE$, the possibility of Chanarin Dorfman syndrome should be considered.	false
+08fd27564f782fc1045336c3bba71f14d14cffb2	Mutations of the FGD1 gene are responsible for a significant proportion of patients with @DISEASE$ (AAS), an X-linked disorder characterized by short stature, @PHENOTYPICFEATURE$, urogenital abnormalities, and a typical dysmorphic facial appearance.	has_symptom
+bacae2b3c99a38a93469121664f4d4d30990b099	Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (AAS), an X-linked disorder characterized by short stature, brachydactyly, @PHENOTYPICFEATURE$, and a typical dysmorphic @DISEASE$ appearance.	false
+6f0edb8a1d26b2d4f359f038543bde10dc47a880	Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (@DISEASE$), an X-linked disorder characterized by @PHENOTYPICFEATURE$, brachydactyly, urogenital abnormalities, and a typical dysmorphic facial appearance.	false
+f49f9555ef93b72249fa297dd8bbdc19ff70450c	Mutations of the FGD1 gene are responsible for a significant proportion of patients with @DISEASE$ (AAS), an X-linked disorder characterized by short stature, brachydactyly, @PHENOTYPICFEATURE$, and a typical dysmorphic facial appearance.	false
+0a1cc103d26a3dc196c3ecd2ddf3350328a6bbd0	Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (AAS), an X-linked disorder characterized by short stature, @DISEASE$, @PHENOTYPICFEATURE$, and a typical dysmorphic facial appearance.	false
+b36179e60d7eaebdc4afd23273fe23110e8e13b3	Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (AAS), an X-linked disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, urogenital abnormalities, and a typical dysmorphic facial appearance.	false
+cae84f0bf3bd0c0f0128b53054d8e85eb4e9164d	Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (@DISEASE$), an X-linked disorder characterized by short stature, brachydactyly, @PHENOTYPICFEATURE$, and a typical dysmorphic facial appearance.	false
+c09511fa7b6774f3628128b5648b82ab33f420da	Mutations of the FGD1 gene are responsible for a significant proportion of patients with Aarskog-Scott syndrome (AAS), an X-linked disorder characterized by @PHENOTYPICFEATURE$, brachydactyly, urogenital abnormalities, and a typical dysmorphic @DISEASE$ appearance.	false
+68e63bf5811da56959e3ada1ac8315ed32589c7f	Mutations of the FGD1 gene are responsible for a significant proportion of patients with @DISEASE$ (AAS), an X-linked disorder characterized by @PHENOTYPICFEATURE$, brachydactyly, urogenital abnormalities, and a typical dysmorphic facial appearance.	false
+e6b3752a1b9ab8bef1646a62bbadb1d0d8e33e27	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, @PHENOTYPICFEATURE$ and urogenital abnormalities.	has_symptom
+57b40811b6d656355024073dd6550e71bd962042	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and @PHENOTYPICFEATURE$.	false
+b9fcbef510b68cc870ca7c0ad2e7c2701b040319	Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphisms, @DISEASE$ and urogenital abnormalities.	false
+221ead2184f24aa90eb339d9889949a413d6ecf5	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphisms, brachydactyly and urogenital abnormalities.	false
+6336a909f284d005770efd8307d6fbd57b770d9e	Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+aa56335456f54bf48fc278d7f487b654e84e81b3	@DISEASE$ (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, @PHENOTYPICFEATURE$, and genital anomalies.	has_symptom
+c65ddcfc362843618016057e27de45450e65eeb2	Aarskog-Scott syndrome (@DISEASE$) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, @PHENOTYPICFEATURE$, brachydactyly, and genital anomalies.	false
+9c788d3e45a48357f2264d0713d2c8ab61d268b6	Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by @DISEASE$ dysmorphic features, @PHENOTYPICFEATURE$, brachydactyly, and genital anomalies.	false
+62fd447e677bf7337bc8cd67f82f35db49ab15d5	Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+58016e232656e6fdc1530c8ac154576a4e57e3e3	@DISEASE$ (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, @PHENOTYPICFEATURE$, brachydactyly, and genital anomalies.	false
+42b07a85e1da3b4ce802fdea38b2e82d566a320e	Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by @DISEASE$ dysmorphic features, short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+7ffb1e5cbd81d880052a7ed05f76635f9a214961	Aarskog-Scott syndrome (@DISEASE$) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+16d14f2dd6c4ee26ad6216827a24e540164243d1	Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, @PHENOTYPICFEATURE$, @DISEASE$, and genital anomalies.	false
+6b359d0f44fa65b26d252e4f543fe9e03cc4279c	@DISEASE$ (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+6869b5934e245fe874eb9db02b200274ed1557d0	Expanding the phenotype of @DISEASE$ to include short dental roots, @PHENOTYPICFEATURE$, and cataracts.	has_symptom
+c0a9a8092a33f6e6713646f6272c028b683e4bd4	Expanding the phenotype of @DISEASE$ to include short dental roots, hypogammaglobulinemia, and @PHENOTYPICFEATURE$.	false
+015909345facb3aa981a070e2a80c2e58a3c3d26	Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6d73fe9e581e207e456a373f07ae39b8685df362	We have identified various neurological abnormalities in this mouse model of Rett @DISEASE$ which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in mental retardation without the confounding effects of @PHENOTYPICFEATURE$, chronic hypoventilation, or other Rett syndrome associated symptoms.	has_symptom
+7c9d5de3ff9743475a517dbbb0e2e994670e8bdc	We have identified various neurological abnormalities in this mouse model of Rett @DISEASE$ which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in @PHENOTYPICFEATURE$ without the confounding effects of seizures, chronic hypoventilation, or other Rett syndrome associated symptoms.	false
+1a92ea65fc768d0a661e697aee3a7a310a5d9781	We have identified various neurological abnormalities in this mouse model of Rett syndrome/X-linked mental retardation which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in @PHENOTYPICFEATURE$ without the confounding effects of @DISEASE$, chronic hypoventilation, or other Rett syndrome associated symptoms.	false
+2ca3c41c9f49a9fc153f4c52b6795657c6fe7def	A 31 year-old female with a five year history of muscle weakness, cardiac @PHENOTYPICFEATURE$ and elevation of activity of some serum enzymes of muscular origin, showed signs of the @DISEASE$ syndrome on ECG, often in combination with grade 2 A-V block.	has_symptom
+b04595bff9fe9981db7ea9f6832bc0bfd57b0e9e	A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+3b76a9b3674544a5945b821338f86a147dea8344	A new case of megalencephaly and perisylvian polymicrogyria with post-axial @PHENOTYPICFEATURE$ and hydrocephalus: @DISEASE$.	false
+ee58cc4fbc61c7fa09db4e6352f7acc1019b9663	A new case of megalencephaly and perisylvian polymicrogyria with post-axial @PHENOTYPICFEATURE$ and @DISEASE$: MPPH syndrome.	false
+c6be1370c1d457fc97499d547d6fbf0311814cf4	We report a new case of megalencephaly and polymicrogyria with post-axial polydactyly and @PHENOTYPICFEATURE$ (@DISEASE$) in an 18-month-old girl.	has_symptom
+8aa4e1e6e87116b7901f0b56057c003ebf83c8eb	We report a new case of megalencephaly and polymicrogyria with post-axial @PHENOTYPICFEATURE$ and hydrocephalus (@DISEASE$) in an 18-month-old girl.	false
+4e65c69d14e2550402edfd0be507ec8e8ebc9d05	We report a new case of megalencephaly and polymicrogyria with post-axial @PHENOTYPICFEATURE$ and @DISEASE$ (MPPH syndrome) in an 18-month-old girl.	false
+6bc33684a4f0690208c89022bdbc5c3b40297d6f	We report an infant with @DISEASE$, but lacking frank @PHENOTYPICFEATURE$.	has_symptom
+2cb3f3f66130372d81527601b81dcebb4b6087f2	@DISEASE$ is a rare autosomal recessive disease caused by mutations in the GRHPR gene, leading to an accumulation of oxalate and L-glycerate with recurrent kidney stone formation and nephrocalcinosis, and the later development of @PHENOTYPICFEATURE$ and systemic oxalate depositions.	has_symptom
+d36115a917fca9ce61ab3fee5c704640530e52ec	Among the post-immunization adverse events, especially of Diphtheria-Pertusis-@DISEASE$ (DPT), @PHENOTYPICFEATURE$ is a common systemic reaction.	has_symptom
+1dc2c76920a7f7ee0f9cf496b5ed0c268617b4c7	The diagnosis of @DISEASE$ was arrived at after neuroimaging showed @PHENOTYPICFEATURE$ with interhemispheric cysts.	has_symptom
+25ec92156d3a9c83c8064fdbc70f3e079d48c341	@DISEASE$ (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and @PHENOTYPICFEATURE$, is a rare genetic disorder that is apparent at birth.	has_symptom
+f9f0fc2513b740fc842e7ecff2b0e5cae45f660d	Acrocallosal syndrome (@DISEASE$), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and @PHENOTYPICFEATURE$, is a rare genetic disorder that is apparent at birth.	has_symptom
+09dffbc16b6f7943524ed5014c48b58ad59c07a4	Acrocallosal syndrome (ACLS), also known by its synonyms: @DISEASE$ and Hallux duplication, Postaxial polydactyly and @PHENOTYPICFEATURE$, is a rare genetic disorder that is apparent at birth.	has_symptom
+c8137fd4b5883f15f0dd40085673af1c919ceab3	@DISEASE$ (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+9ce499ba1e8d056ed8cca647f5edd6a60e0995be	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+1fad57cfcf8e2479b82710d25a1853c05a3a6f89	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+6a868f644d792a15bfc095ad317801e360d19ad3	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+f1064e439aa6e6d5bdebfb121c5f9d06fcf29f1d	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+5a91c3adace4fccecdacdff7454e0d48a645e3e2	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+23a0c0b7062902375893edcaf2dd4e0df35c4355	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @DISEASE$ (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+cf978a81529c83ed5f109e2141b062b7181dd35a	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @DISEASE$ (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+850c99cf202e62dcadc46c17edb7353199759e23	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+8eb56da15643db7a3ff78119606722b6049c47c1	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+980f37f61153fffdad4be35455ebd18dfdd896e0	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @DISEASE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+37570af4ab058093bc2959561edffae6d3054d5c	@DISEASE$ is an autosomal recessive form of polysyndactyly associated with mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+097a4cba5c512559bd383ec9a09ef17dd0bbd52b	@DISEASE$ is an autosomal recessive form of polysyndactyly associated with @PHENOTYPICFEATURE$ and agenesis of the corpus callosum.	false
+41c3de56b468e8f4b301ec9ddbbfea7fc2f25733	Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+beb17e5f828980b3f7e2c7f55e897fe070f1332e	@DISEASE$ (ACS) is an autosomal recessive condition, characterized by @PHENOTYPICFEATURE$, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation.	has_symptom
+48a4919826adb8f2d6267b06ea62277abeb61eea	Acrocallosal syndrome (@DISEASE$) is an autosomal recessive condition, characterized by @PHENOTYPICFEATURE$, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation.	has_symptom
+9eb7c0bb8e9131b5f3e388b4be5b387f12be3a29	@DISEASE$ is characterized by postaxial polydactyly, macrocephaly, @PHENOTYPICFEATURE$, and severe developmental delay.	has_symptom
+d658752fa63df4e8d47c8d646d11bc3f9e131fe3	@DISEASE$ is characterized by postaxial polydactyly, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and severe developmental delay.	false
+8d760e7fb2d62a7002e52560925186bfd5b036a4	Acrocallosal syndrome is characterized by postaxial polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, and severe developmental delay.	false
+990ad3eafbb52a5888bb62ba17995f7877a2f038	@DISEASE$ (ACLS) is a rare recessive disorder characterised by @PHENOTYPICFEATURE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation.	has_symptom
+c6689658a67b8a0d0cd46fcbc58bd08b99036bab	Acrocallosal syndrome (@DISEASE$) is a rare recessive disorder characterised by @PHENOTYPICFEATURE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation.	has_symptom
+ab693625e23ee6d20ac046f67b767910cc8d5c44	Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by @DISEASE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+7d5930c9b0fed4b318ac07f16ad8f27b30c12ec8	Acrocallosal syndrome (@DISEASE$) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+29e28ca4da81f432eb5380742a8883566053c644	@DISEASE$ (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+8c61b0038b8936dff3ed12d357396971e67437d9	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, craniofacial anomalies, psychomotor retardation, and polydactyly.	has_symptom
+87d6cb15af73c58c8569f07acd61c06f335606d0	@DISEASE$ is characterized by agenesis of the corpus callosum, craniofacial anomalies, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+f28217ac4e1dae5904d357db79b4ccaa09713448	Acrocallosal syndrome is characterized by @DISEASE$, craniofacial anomalies, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+e0659360d48faf25a345b8af1a68ac63da752c67	Four patients including two sisters with the @DISEASE$ (@PHENOTYPICFEATURE$ in combination with preaxial hexadactyly).	has_symptom
+b7780929b23c27e1e4294963d84c7b9a1a338019	The @DISEASE$ is characterized by peculiar facies, polydactyly of the hands and/or feet, and @PHENOTYPICFEATURE$.	has_symptom
+2359398a21d6e8c45f4bdb670a75b39205adbbcc	@PHENOTYPICFEATURE$ is classically a component of @DISEASE$; however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.	has_symptom
+474dc11d387483eaaa30ac1af6c1e1edc999d397	Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder @DISEASE$ (HED), characterized by congenital nail clubbing, alopecia and @PHENOTYPICFEATURE$.	has_symptom
+dcaa6cb71fc06ec77404c80116010e9049166893	KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas @DISEASE$ is characterized by nail dystrophy, hypotrichosis, and @PHENOTYPICFEATURE$.	has_symptom
+c29ce10f0a6de723ef0a8a7af39089323a25f38a	A female neonate presented with limb abnormalities, @PHENOTYPICFEATURE$ and congenital heart disease was diagnosed as @DISEASE$.	has_symptom
+4dd7c6da503a21d11c651e27dd7bbbd2f8e074a3	A female neonate presented with @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart disease was diagnosed as ACFS.	false
+54929d8422c0d5254bf854927d54e8dc1b9e5086	A female neonate presented with @PHENOTYPICFEATURE$, cleft palate and congenital heart disease was diagnosed as @DISEASE$.	false
+c5742fba51aec322d37973cc4d8cbdd95ec1591b	A female neonate presented with @PHENOTYPICFEATURE$, cleft palate and @DISEASE$ was diagnosed as ACFS.	false
+f869fc40fb98e8404800b59b99a4b582651be910	We treated a patient with nongranulomatous panuveitis associated with @DISEASE$ who had symptoms of @PHENOTYPICFEATURE$, severe fever, leg edema, and blurred vision.	has_symptom
+b9478fbfd4bbe8b2b2216224131563686c24c20f	Diffuse @PHENOTYPICFEATURE$, nausea and vomiting due to @DISEASE$: a rare but often missed diagnosis.	has_symptom
+b43a02cddbcac2e834e9581c50e5cf4c78c75590	To investigate the etiology in a large autosomal-dominant inherited simple microphthalmia (@DISEASE$) pedigree, which is the first genetically analyzed Chinese microphthalmia pedigree, we performed a whole-genome scan using 382 micro-satellite DNA markers after the exclusion of reported candidates associated with @PHENOTYPICFEATURE$.	has_symptom
+ce096b72fc783da7842e27a416e7752877a02a1c	Posterior @PHENOTYPICFEATURE$ and @DISEASE$ in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.	has_symptom
+6eacd3d652c0e65d39c42a7f6897df4e86efff26	Mutations in the membrane frizzled-related protein (MFRP/Mfrp) gene, specifically expressed in the retinal pigment epithelium (RPE) and ciliary body, cause @DISEASE$ or posterior @PHENOTYPICFEATURE$ with retinitis pigmentosa in humans, and photoreceptor degeneration in mice.	has_symptom
+7223141970ed4d85d567654b8f358711d7a7855c	Posterior @PHENOTYPICFEATURE$ (PM) and @DISEASE$ are two rare subtypes of isolated CMIC characterized by extreme hyperopia due to short axial length and elevated lens/eye volume ratio.	has_symptom
+3c5ddc6ac889e225a2f115552f43de42da4d468d	Unlike in Drosophila, Hsp90 inhibition can decrease developmental stability in zebrafish, as indicated by increased asymmetric presentation of anophthalmia, @PHENOTYPICFEATURE$, and @DISEASE$ and sunrise phenotypes.	has_symptom
+28d3aca584cc1f622627007324de7ea4cd7e72a1	Infants with @DISEASE$ (AGS) frequently develop neonatal @PHENOTYPICFEATURE$, and some AGS infants who suspected of biliary atresia subsequently undergo the Kasai operation with the diagnosis of biliary atresia.	has_symptom
+93c663150d4c1b5e69a314174455c97dbef76455	Infants with @DISEASE$ (AGS) frequently develop neonatal cholestasis, and some AGS infants who suspected of biliary atresia subsequently undergo the Kasai operation with the diagnosis of @PHENOTYPICFEATURE$.	false
+84aa1004477de7e493a501e29832c814cd905b54	Infants with Alagille syndrome (AGS) frequently develop neonatal @DISEASE$, and some AGS infants who suspected of biliary atresia subsequently undergo the Kasai operation with the diagnosis of @PHENOTYPICFEATURE$.	false
+8b271b45b4e389814b605581d4520e29cd6b4cac	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked @PHENOTYPICFEATURE$), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	has_symptom
+1f686c5e5f71df9c18621068d5df087ca8085fb1	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+8761a7376ed52eae17c8f1a9838eb49697d0c2cc	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, @DISEASE$, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+3e55566c483d5eaf875ed9245c9231639315e559	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+68201ee1ca4e3bb736e512bc03788fc760df10d9	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked @DISEASE$), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+b1b83b2df6b194771d91a1c1abc7d1d57aa0e9fd	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., @DISEASE$, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+dfa6a51ef94dd41c0d0c6da25748c45fa4df3b8d	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, @DISEASE$, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+ce315a20bc1fb58fbac334e1b20f08647bdb140a	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+b8a81710e807a9af2480e923eed1d251d1f9b6ba	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several @DISEASE$ associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+36eae130f154ff32795b23af36180ddfc15f077e	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several @DISEASE$ associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+01cacf49ee1ef573aa16bca4f18c4aee72810a99	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+96c31135205296eb8065b731a22a5bb2da9df7e4	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+52445ce282700889870fdab5d179159a87e40084	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+3aef4bd96874a31754d21f7723844bfc17f7ee96	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, @DISEASE$, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+3009f28b4a60da13939528a22d48cb962ed8b1df	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, @DISEASE$, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+01b98110d34dcab4a4fdc7a1ea8e3e048b2bd0d4	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked @DISEASE$), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+5b226cf4996989904e08d69482062203403b312c	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, @DISEASE$, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+9155876ca191f6260515be1a254a4d498acd0ef6	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., @DISEASE$, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+fecabfe0efe41b917e854a80c243b3412a1d7dc5	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, @DISEASE$, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+278421598e9453bd97687a3bf6cfa6ab4087ce26	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, @DISEASE$, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+0043a4ddf2c594539cbcb08572f06d8471c258c3	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, @DISEASE$, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+b84dfbdbed7f2779190b9adac9187b6acf96146c	We suggest that @DISEASE$ does not cause the progeroid form of Ehlers Danlos syndrome, but instead results in a clinically recognizable syndrome comprising @PHENOTYPICFEATURE$, joint hypermobility, radioulnar synostosis, and severe hypermetropia.	has_symptom
+dc1788ec6e155075dd1e8182b6673f4ea5fd1397	Our cases showed no resemblance, apart from @PHENOTYPICFEATURE$, to @DISEASE$, which is caused by the deletion of 8q23.3 and 8q24.	has_symptom
+28f4c2288dd809369a19156c8c3b63a2e55dbc89	We recently treated a 5-year-old, @PHENOTYPICFEATURE$ boy with @DISEASE$ for symptomatic multiple exostoses involving his proximal tibia and distal femur.	has_symptom
+3f5250393c1b4aa0d4c5f397c949a7f05544d050	This finding provides additional information on the minimum deleted segment required to produce the @DISEASE$ and may indicate that deletions of this size or smaller are not necessarily associated with @PHENOTYPICFEATURE$.	has_symptom
+6957700140a7b2299b7436957236a71d8a097ac8	Deletion of the long arm of chromosome 8 was found in a @PHENOTYPICFEATURE$ boy with typical features of the @DISEASE$ (TRP syndrome type II).	has_symptom
+c032601ad8755beb308a80e84dad9c13a2c6e9cc	The data obtained are useful for defining the location of the putative @PHENOTYPICFEATURE$ gene(s) in TRPS1 and @DISEASE$ (TRPS2), as well as a locus for postaxial polydactyly.	has_symptom
+3cbffd0598f84bd0f98e0f44d8567a17d160ff81	Case report of a severe upper cervical cord compression and tetraparesis by a massive cervical exostotic osteochondroma in a patient with multiple exostoses-@PHENOTYPICFEATURE$ syndrome (@DISEASE$; LGS).	has_symptom
+39a423a5c567a94124c19ca29ae66a3a5c6e65a2	The tricho-rhino-phalangeal syndrome with exostoses (or @DISEASE$): four additional patients without @PHENOTYPICFEATURE$ and review of the literature.	has_symptom
+f09c76ded44bba6a3f6fa3f4d83ebcb5c993b725	Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-@PHENOTYPICFEATURE$ syndrome (@DISEASE$).	has_symptom
+b8bac6b77b655fcb0f28712eff2a3101bca286b4	Langer-Giedion syndrome (@DISEASE$) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, @PHENOTYPICFEATURE$ and digit deformities.	has_symptom
+78deb5d55cddfe723af85d8c1d09c12845c090ae	@DISEASE$ (trichorhinophalangeal syndrome type II) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, @PHENOTYPICFEATURE$ and digit deformities.	has_symptom
+53ae24edc29243723a0f3ddd84f4dabbda2f1895	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of intellectual disability associated with @PHENOTYPICFEATURE$ and macrocephaly.	has_symptom
+e6b4ff1941f813dda18278ffca9ffd4d2de00d7c	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of @PHENOTYPICFEATURE$ associated with overgrowth and macrocephaly.	false
+c05ea8b2b72588c35e2e6d7876f6e6e508ab27e0	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b38ac15ff85ce93e9348ca46c94752733674fc7b	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and @PHENOTYPICFEATURE$.	false
+eac7e42cbee9aa4815aeabb3b7d09ae5051d998b	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan @DISEASE$), a syndromic form of @PHENOTYPICFEATURE$ associated with overgrowth and macrocephaly.	false
+a03a33e3652229cd6c703a3c9f30da73c661dc0e	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan @DISEASE$), a syndromic form of intellectual disability associated with overgrowth and @PHENOTYPICFEATURE$.	false
+6a92e6da74ee224f605e1b3d6411c1a5bd2ea790	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of @PHENOTYPICFEATURE$ associated with @DISEASE$ and macrocephaly.	false
+94874f2274f59815a2af05fafdef920b0f4f15df	We report a 7-year-old boy with @DISEASE$ with a narrow double IAC with no @PHENOTYPICFEATURE$ but with conductive hearing loss.	has_symptom
+76dd696786b440178f77642609d50963e9b5db20	We report a 7-year-old boy with Klippel-Feil syndrome with a narrow double IAC with no @DISEASE$ but with @PHENOTYPICFEATURE$.	false
+7e9f57372a828b63e72de65671b1a3a5d544d2ef	We report a 7-year-old boy with @DISEASE$ with a narrow double IAC with no sensorineural hearing loss but with @PHENOTYPICFEATURE$.	false
+d2a04cdd63c9bb8add9ca88c0c53cdd5781449d7	The @DISEASE$ is usually associated with @PHENOTYPICFEATURE$, but rarely is it associated with conductive or mixed deafness.	has_symptom
+a831a8821802022992681bf140cd035fe686bc42	The @DISEASE$ is usually associated with sensorineural hearing impairment, but rarely is it associated with conductive or mixed @PHENOTYPICFEATURE$.	false
+565dffdd63c421258c787b3914f65fff89d47498	The Klippel-Feil syndrome is usually associated with @DISEASE$, but rarely is it associated with conductive or mixed @PHENOTYPICFEATURE$.	false
+af491e0282774b7743b9a9c689710f4f0f7e5610	The @DISEASE$ is usually associated with @PHENOTYPICFEATURE$ and reports of conductive or mixed deafness are rare.	has_symptom
+fb66e850ebaf7c336ff2000e46f583f36cb78dfc	The @DISEASE$ is usually associated with sensorineural deafness and reports of conductive or mixed @PHENOTYPICFEATURE$ are rare.	false
+8ef147595e25789b396cf64f79fce8decc497d8e	The Klippel-Feil syndrome is usually associated with @DISEASE$ and reports of conductive or mixed @PHENOTYPICFEATURE$ are rare.	false
+7e9f57372a828b63e72de65671b1a3a5d544d2ef	We report a 7-year-old boy with @DISEASE$ with a narrow double IAC with no sensorineural hearing loss but with @PHENOTYPICFEATURE$.	has_symptom
+5ef3c954947053bb4e456e2c8df38fa27bb38d6b	We report a 7-year-old boy with Klippel-Feil syndrome with a narrow double IAC with no @PHENOTYPICFEATURE$ but with @DISEASE$.	false
+94874f2274f59815a2af05fafdef920b0f4f15df	We report a 7-year-old boy with @DISEASE$ with a narrow double IAC with no @PHENOTYPICFEATURE$ but with conductive hearing loss.	false
+6e8672cb2d4728368d6f9bfc21f582feef602e16	@DISEASE$ with unexplained apparent @PHENOTYPICFEATURE$.	has_symptom
+c972b66563f67ad3ed2f587de7649ad199ead23c	Since these results are encouraging, it is concluded that an exploratory tympanotomy should be considered during the course of hearing rehabilitation in cases of @DISEASE$ and a significant @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+71718269da9dbc7fdbd8bccbf2ada1f1df18efa2	@DISEASE$ with @PHENOTYPICFEATURE$ and histological findings of removed stapes.	has_symptom
+3fefa69413fc7c70f16b6d6a7310bee5bc9760e8	A review of the literature on the @DISEASE$ has shown that, in some of them the @PHENOTYPICFEATURE$ was unexplained, while in others the deafness was due to dysplasia of the ossicular chain or to a combination of dysplasias of the labyrinth and middle ear in the same ear.	has_symptom
+4f0fcc1fdfe1168dceb215c27d28e7fd89b0605f	A review of the literature on the @DISEASE$ has shown that, in some of them the conductive deafness was unexplained, while in others the @PHENOTYPICFEATURE$ was due to dysplasia of the ossicular chain or to a combination of dysplasias of the labyrinth and middle ear in the same ear.	false
+a0e25d3ab24888604d099276eea5c99649003aac	A review of the literature on the Klippel-Feil syndrome has shown that, in some of them the @DISEASE$ was unexplained, while in others the @PHENOTYPICFEATURE$ was due to dysplasia of the ossicular chain or to a combination of dysplasias of the labyrinth and middle ear in the same ear.	false
+f7841a58b21392c80360866ccfffad897d182754	@DISEASE$ type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like @PHENOTYPICFEATURE$, ichthyotic skin and short stature, caused by a homozygous mutation in MPLKIP gene.	has_symptom
+2182c2b90ce53faf94f2d1c5078d2fea3f2b966a	Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like @DISEASE$, ichthyotic skin and @PHENOTYPICFEATURE$, caused by a homozygous mutation in MPLKIP gene.	false
+229195c38004893b2cd2820f65a0498ab04545da	@DISEASE$ type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and @PHENOTYPICFEATURE$, caused by a homozygous mutation in MPLKIP gene.	false
+06973cf9d89090537b6165b04f0e1b08845e8cb6	@DISEASE$ (brittle sulfur-deficient hair) is a marker for several autosomal recessive neurocutaneous syndromes with neurological manifestations and @PHENOTYPICFEATURE$.	has_symptom
+d4db84ca3a70da6323fee20c9e8c3af7cce68a82	@DISEASE$ is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, @PHENOTYPICFEATURE$, and gonadal failure.	has_symptom
+a16760f8b6ce0f185101d9bf6d5af3ed3ec22df9	@DISEASE$ is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, @PHENOTYPICFEATURE$, ichthyosis, mental retardation, and gonadal failure.	false
+85bbd70f607b1d49ae5a3ce07fb9a24e7d087a75	Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, @PHENOTYPICFEATURE$, ichthyosis, @DISEASE$, and gonadal failure.	false
+4f9a36a0180fb8db79f0d3a7306e1d5feeb42772	Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and gonadal failure.	false
+60e6829fa76485c4d4ecd6e9aa2aab787824be35	@DISEASE$ @PHENOTYPICFEATURE$; report of a case.	has_symptom
+a92cb794bfedbfb51671d92823df7ced81518a42	Three patients had associated @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+d0284c4a91f6260b6f4b61de54ffa6b2418b494f	Pachydermoperiostosis or @DISEASE$ is a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+df66f74d272eadeb3d6d0e0c5b7075f13ca7b515	[Surgical treatment of @DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+bff3ea8c4266da2e83b073da6c3250c9e6eae729	We describe a 2-month-old infant girl with typical clinical manifestations of the @DISEASE$: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and @PHENOTYPICFEATURE$.	has_symptom
+eca08dffb6175cbbca0e5cad24e16c18449ea4b1	We describe a 2-month-old infant girl with typical clinical manifestations of the @DISEASE$: characteristic face, @PHENOTYPICFEATURE$, polydactyly associated with other anomalies of the extremities, and mental retardation.	false
+fe0fae8998eff2c71984794d7fa84ee8277b360c	We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, @PHENOTYPICFEATURE$, polydactyly associated with other anomalies of the extremities, and @DISEASE$.	false
+c4290e5d36a0772bd69e85bdd1d2dbe096cba15c	We describe a 2-month-old infant girl with typical clinical manifestations of the @DISEASE$: characteristic face, agenesis of corpus callosum, @PHENOTYPICFEATURE$ associated with other anomalies of the extremities, and mental retardation.	false
+443da5ae770c5f55db5213239a322b1fbca2ee0f	We describe a 2-month-old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, @PHENOTYPICFEATURE$ associated with other anomalies of the extremities, and @DISEASE$.	false
+a654a38269f1443ee6c51e362062e1c1ab707163	Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (@DISEASE$) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and @PHENOTYPICFEATURE$.	has_symptom
+5a91c3adace4fccecdacdff7454e0d48a645e3e2	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	has_symptom
+8eb56da15643db7a3ff78119606722b6049c47c1	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	has_symptom
+1fad57cfcf8e2479b82710d25a1853c05a3a6f89	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+6a868f644d792a15bfc095ad317801e360d19ad3	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+f1064e439aa6e6d5bdebfb121c5f9d06fcf29f1d	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+c3b3d2dc857c86e6611562dade1cf99695fdfd00	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @DISEASE$.	false
+bab63ae0977f60af0ecfe9add570e70ab3e6ffd5	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and @DISEASE$.	false
+850c99cf202e62dcadc46c17edb7353199759e23	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+217c4e56d6332780051a0605afd5e2c3b0a259b5	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and @DISEASE$.	false
+9ce499ba1e8d056ed8cca647f5edd6a60e0995be	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+c8137fd4b5883f15f0dd40085673af1c919ceab3	@DISEASE$ (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+097a4cba5c512559bd383ec9a09ef17dd0bbd52b	@DISEASE$ is an autosomal recessive form of polysyndactyly associated with @PHENOTYPICFEATURE$ and agenesis of the corpus callosum.	has_symptom
+37570af4ab058093bc2959561edffae6d3054d5c	@DISEASE$ is an autosomal recessive form of polysyndactyly associated with mental retardation and @PHENOTYPICFEATURE$.	false
+f9be3ac95828ad2c0d6ca8133b044c761837b3ef	Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+19e38cc47d6044eb867dd16e84ecf4fd9829f504	The @DISEASE$ is a rare congenital malformation syndrome with the main findings: agenesis of the corpus callosum, craniofacial dysmorphisms, @PHENOTYPICFEATURE$, polydactyly of the hands and/or feet.	has_symptom
+f2be6b1effcb88538bd884bc2d6f33c9221d1b4d	The acrocallosal syndrome is a rare congenital malformation syndrome with the main findings: @PHENOTYPICFEATURE$, craniofacial dysmorphisms, @DISEASE$, polydactyly of the hands and/or feet.	false
+8b94d876eff664f683c8e4d39d84a4613da28dd9	The @DISEASE$ is a rare congenital malformation syndrome with the main findings: @PHENOTYPICFEATURE$, craniofacial dysmorphisms, mental retardation, polydactyly of the hands and/or feet.	false
+866422fe6bf3cd646993374496cd2de447379695	The acrocallosal syndrome is a rare @DISEASE$ with the main findings: @PHENOTYPICFEATURE$, craniofacial dysmorphisms, mental retardation, polydactyly of the hands and/or feet.	false
+f74515e875e3843b2b73b351492dc97500e0a5d4	Individuals with autism spectrum disorder (ASD) and/or @PHENOTYPICFEATURE$ (ID) may be at higher risk for @DISEASE$ admissions than individuals in the general population due to difficulty accessing primary care.	has_symptom
+68f33d1a1de85c11602ae68908d271905918a90b	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	has_symptom
+0b6d77baba067d72bfd2c90760021df7aa721973	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+1f3f9bef53af5bee94adc5bf35f34fbece2f768b	Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @DISEASE$.	false
+41369fa20eb1833547005ac2641fee5388ecb615	Acrocallosal syndrome is a multiple @DISEASE$ disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+ccb63eccf8b0993a3654bb4f6d9bd491f806da66	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+aa2581fc3e88811292134efa5ed7e4d742d5bd19	Acrocallosal syndrome is a multiple @DISEASE$ disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+27ad486dd5b8a99f86d633b11a9e916794523d4d	Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and @DISEASE$.	false
+a2bff1b6ee00b62ebdbd156b18c07dd101973d29	A syndrome with multiple malformations, @PHENOTYPICFEATURE$, and @DISEASE$ deficiency.	has_symptom
+4cde8df7596f822c6280666c625626ff0330de5c	The acrocallosal syndrome (@DISEASE$) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and @PHENOTYPICFEATURE$.	has_symptom
+5e3e9f24731d7ece9f5a8beb1df69fdd82dbffae	The @DISEASE$ (ACS) was recognized by Schinzel in 1979 as a specific entity, characterized by the association of craniofacial anomalies, total or partial agenesis of corpus callosum, polysyndactyly and @PHENOTYPICFEATURE$.	has_symptom
+c9cdd5f702aab3d1727ac25b8e0034c0ba49071e	The @DISEASE$ (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and @PHENOTYPICFEATURE$.	has_symptom
+2c1f8734609c360a6b26b71188e53ee71b59a492	The acrocallosal syndrome (@DISEASE$) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and @PHENOTYPICFEATURE$.	has_symptom
+13119c963acb31433c7cdd7b565a857695b7190b	The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of @PHENOTYPICFEATURE$, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and @DISEASE$.	false
+0117aa2ae74629612d4415153087b6ae2afd573a	The acrocallosal syndrome (@DISEASE$) is a probable autosomal recessive condition of @PHENOTYPICFEATURE$, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation.	false
+c49252b03a81aa0809f4fe11711add25cd100be3	The @DISEASE$ (ACS) is a probable autosomal recessive condition of @PHENOTYPICFEATURE$, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation.	false
+0da7d0cb72daf23cf74e2a9917b08acbc9740f0c	A 10-year-old girl with characteristic features of @DISEASE$ (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented.	has_symptom
+258b7d720efd51c1fe70919b85de89ce28e98aa8	A 10-year-old girl with characteristic features of @DISEASE$ (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, @PHENOTYPICFEATURE$, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented.	false
+075efd05b4c1e1129733b4014cde9208f390e580	A 10-year-old girl with characteristic features of @DISEASE$ (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, maxillary hypoplasia, and hoarse voice) are presented.	false
+0788f92a6c2e2a81d38ccbf4415f5cd7a74925e0	A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, @DISEASE$, unusual facial features, @PHENOTYPICFEATURE$, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented.	false
+320e326aa792dd9836c61fbe8c563b53ed859bb7	A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, @DISEASE$, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, maxillary hypoplasia, and hoarse voice) are presented.	false
+2da6efee92bc5293f6a69dcaa9dec0c74cc3c4b2	@DISEASE$ is a juvenile @PHENOTYPICFEATURE$ most often inherited in an autosomal recessive pattern, characterized by decreased vision in the first 2 decades of life.	has_symptom
+a370fd3f4a087a9f60e76f0cca8f5d8bad4d978d	@DISEASE$ is the most common form of early onset @PHENOTYPICFEATURE$.	has_symptom
+f0e5a8ca6ff828069ac8020e45957753a99ca75f	@DISEASE$ (STGD1), the most common early-onset recessive @PHENOTYPICFEATURE$, is caused by mutations in the gene encoding the ATP-binding cassette transporter ABCA4.	has_symptom
+a1bdb48e5190e5bfd30acc23c67952d826fb7d59	Mutations in the gene encoding ABCR (ABCA4), a photoreceptor-specific ATP-binding cassette (ABC) transporter, are responsible for autosomal recessive @DISEASE$ (STGD), an early onset @PHENOTYPICFEATURE$, and some forms of autosomal recessive cone-rod dystrophy and autosomal recessive retinitis pigmentosa.	has_symptom
+d1813949168a1dc497202ec5ab2f14e1a282cc50	Mutations in the human ABCR gene are responsible for autosomal recessive @DISEASE$, the most common cause of early onset @PHENOTYPICFEATURE$.	has_symptom
+2ccbc935660337891f80330c759436733f3197eb	In the present study, we used this property as a criterion to search for natural and artificial substrates and/or allosteric regulators of ABCR, the rod photoreceptor-specific ABC transporter responsible for @DISEASE$, an early onset @PHENOTYPICFEATURE$.	has_symptom
+a952a549817fedd8d49752870d958737c1eaec00	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, @DISEASE$, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	has_symptom
+9d38a943e000e1005dbce47e65c9b8e3a4af4cdc	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+81863e2a7d45f190a65f5e2b1f9c14b648fa1ea9	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	false
+c89908d943aeee6340a26026b4e1f38ffc2a03c7	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including @DISEASE$, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+f41f9f120d9ae8be48e726713343e8dee8aeaecf	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, @DISEASE$, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+359afa41573fa84c78a5c0b4cefbb349f3296396	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @DISEASE$, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+c0a88fd23e3adb30ec3517b6422c823e9aea7270	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+19b43e18c9b4265a6f196a61b099f80fae60fd25	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, @DISEASE$, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+acc72bfc01c8d109d880630800f1862e3584ac9b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, @DISEASE$, Bardet-Biedl syndrome, and Usher syndrome.	false
+dc5e9cdc15c4f2d3d948fe912e70b258981ece9b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	false
+f2e505464b59985c250f64b32729c528eb11db72	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, @DISEASE$, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+db9023b59bddbea8dcec10a16585aeee21c7f7c9	Mutations in ELOVL4 have also been implicated in an autosomal dominant form of @DISEASE$ (STGD3), a type of juvenile @PHENOTYPICFEATURE$.	has_symptom
+118ae039c1103c4cf4b48188c54504487a6bc495	Because it has been found to have significant cytotoxic potential, lipofuscin is thought to play a role in retinal degeneration diseases including age-related macular degeneration and @DISEASE$, a form of juvenile @PHENOTYPICFEATURE$.	has_symptom
+5ea68307577afd02c870fa319cf8a675b5f22935	Two hundred forty unrelated patients diagnosed with cone dystrophy, cone-rod dystrophy, macular dystrophy, @PHENOTYPICFEATURE$, or @DISEASE$, 95 control individuals, and 2 unrelated families with a distinctive type of cone dystrophy.	has_symptom
+6dfc38bedde17b616e54a88cf311d60b1bf0beed	The late sodium current has been increasingly recognized for its mechanistic role in various cardiovascular pathologies, including angina pectoris, myocardial ischemia, atrial fibrillation, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+33eccccf192ce453ea2724d9f1f1236dfa36b610	Arrhythmias are more likely to occur if drug-induced QTc prolongation coexists with other risk factors, such as individual susceptibility, presence of @DISEASE$, @PHENOTYPICFEATURE$, bradycardia, electrolyte imbalance, overdose of a QTc prolonging drug, female sex, restraint, old age, hepatic or renal impairment, and slow metaboliser status.	has_symptom
+04505b9e17bc6c278f523400902050c29916f605	Based on the Galenic descriptions, several modern medical conditions may be identified, such as @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia, @DISEASE$ or anomalies of the coronary arteries.	has_symptom
+e89187a16d829c4694627b30bd1f2221baad8e88	beta-Blockers are particularly useful in preventing sudden death due to ventricular tachyarrhythmias associated with acute myocardial ischemia, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+2b0fe3abdfcd307958fa684a97c32e8cd37f93d7	Because it can prolong the Q-T interval, vandetanib is contraindicated for use in patients with serious cardiac complications, including @DISEASE$, bradyarrhythmias, uncompensated @PHENOTYPICFEATURE$, and a history of torsades de pointes.	has_symptom
+65a08dd8352e8fbd222532298285ba13cb42eded	Successful renal transplantation in a patient with systemic @DISEASE$ and @PHENOTYPICFEATURE$ due to focal glomerulosclerosis.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+649c6beabc4c18ec08cc3b4a0fcd2267253dc5bc	The diagnosis of renal @DISEASE$ must be done quickly to prevent @PHENOTYPICFEATURE$.	has_symptom
+867235b837b88ddfbc9e42b25d4e94baefa41232	Kyrle disease associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ee258d4853d0ade8cdbefdc44f5a672b0b4295cd	Renal @DISEASE$ is rare and may lead to @PHENOTYPICFEATURE$ in less than 3% of patients.	has_symptom
+50defdc0b9b21aaa0ef698fb0bffd1c263aa391b	Nephrocalcinosis, urolithiasis and @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+1c078a58220f4fe72d422d48848a0201901e0936	A case of muscular @DISEASE$ accompanied by severe hypercalcemia (serum calcium 15.5 mg/dl), @PHENOTYPICFEATURE$ and renal calcification is reported.	has_symptom
+911293950fa5423d8afe140e4f4841964a49de69	Here, we report a case of pediatric @DISEASE$, presenting with @PHENOTYPICFEATURE$ and hypercalcemia.	has_symptom
+4890f893be24225e046ebd784d2e3c02b5f1516a	Here, we report a case of pediatric @DISEASE$, presenting with renal failure and @PHENOTYPICFEATURE$.	false
+26e92da3ee37896a6291ec6723eef5a2f4c0e503	Here, we report a case of pediatric sarcoidosis, presenting with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dd48c87df825014fb391e2a215e322114a797e25	@PHENOTYPICFEATURE$, proteinuria, leukocyturia, haematuria, and concentration defect are the prominent features of renal granulomatous @DISEASE$ in children.	has_symptom
+c1e89dfb61e32ea12cc693944ad9f97230fce6f6	In addition, most of the occasional symptoms described in @DISEASE$ patients, such as @PHENOTYPICFEATURE$, abnormal ocular movements, abnormal spatial visual attention, mirror movements, and renal aplasia, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	has_symptom
+e74937e82fea403b7d37c9baf75204c4d37efd59	In addition, most of the occasional symptoms described in @DISEASE$ patients, such as cerebellar ataxia, abnormal @PHENOTYPICFEATURE$ spatial visual attention, mirror movements, and renal aplasia, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	false
+15412cb9f8f1d7f53138711656e14720ce224040	In addition, most of the occasional symptoms described in Kallmann syndrome patients, such as cerebellar ataxia, abnormal @PHENOTYPICFEATURE$ spatial visual attention, mirror movements, and @DISEASE$, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	false
+232417659d077d8c5ecb83aed64ce11da7b88720	In addition, most of the occasional symptoms described in Kallmann syndrome patients, such as @DISEASE$, abnormal @PHENOTYPICFEATURE$ spatial visual attention, mirror movements, and renal aplasia, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	false
+3778bf1e5fb5d8c870dfdea992f102927d63571e	@PHENOTYPICFEATURE$ and focal dystonia in @DISEASE$.	has_symptom
+d28e61b639d2b751f335fcfc113fbd38265d183e	Mutations in TGIF have been detected in patients with holoprosencephaly (@DISEASE$), a severe brain malformation associated with @PHENOTYPICFEATURE$.	has_symptom
+834ffd10f5cb5bada758a2201239d144da363b4b	Besides @PHENOTYPICFEATURE$ and short stature, all patients showed only minimal manifestations of the holoprosencephaly (@DISEASE$) spectrum and only one displayed symptoms of the Currarino syndrome.	has_symptom
+1dfbba8f29065de97fccc1a7bd88234a410c18a3	Besides @DISEASE$ and @PHENOTYPICFEATURE$, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the Currarino syndrome.	false
+8fb37ba14efa4d27ac4f16d9ebcb750845769150	Besides mental retardation and @PHENOTYPICFEATURE$, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the @DISEASE$.	false
+b40e202e687008ffc8b8b43d11a35b792259b74b	Besides mental retardation and @PHENOTYPICFEATURE$, all patients showed only minimal manifestations of the holoprosencephaly (@DISEASE$) spectrum and only one displayed symptoms of the Currarino syndrome.	false
+7723d47cd302be8166d2b63962aa3300ad1a1335	We report on a 23-year-old man with craniofacial findings of the @DISEASE$ spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, @PHENOTYPICFEATURE$, and severe sleep apnea.	has_symptom
+87be1242e80710c0e25db844ae257ab6e05e7e9a	We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (@PHENOTYPICFEATURE$, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, @DISEASE$, and severe sleep apnea.	false
+802dc125f6f4d4ae63f562cbb16f9190cc7199b7	We report on a 23-year-old man with craniofacial findings of the @DISEASE$ spectrum disorder (@PHENOTYPICFEATURE$, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea.	false
+e76034b3c42d09198f113433ae67dbf4f603bdf8	Holoprosencephaly (@DISEASE$) is a common forebrain malformation associated with @PHENOTYPICFEATURE$ and craniofacial anomalies.	has_symptom
+770035d341aee12cf7f539f858f2dac1bb910331	When does bilateral @PHENOTYPICFEATURE$ become @DISEASE$?	has_symptom
+8951ecd9b35a87c7c4a126985620214ff6750812	@DISEASE$ and dominant @PHENOTYPICFEATURE$.	has_symptom
+35b4e981d8cf2b4a8348bf31eab88b625c34d9c6	@DISEASE$ is a mitochondrial disorder causing bilateral @PHENOTYPICFEATURE$.	has_symptom
+67027c8ad8c87281034eb433d8befbed619e22e7	@DISEASE$ is a maternally inherited disease resulting in @PHENOTYPICFEATURE$ and cardiac dysrhythmia.	has_symptom
+9f26f91a75e8cee47d4d62ac4a7a356aae4ba9e2	@DISEASE$ is a rare, maternal linked, genetic disorder that is characterized by progressive bilateral @PHENOTYPICFEATURE$.	has_symptom
+c7164d1e63bb48a32fb5e848f9d179c18f38664e	@DISEASE$ (LHON) is a bilateral @PHENOTYPICFEATURE$, more common in males than in females.	has_symptom
+8773f817720ad040e9716f9b79b2748ab9c98394	@DISEASE$ (LHON) is a mitochondrial disorder with @PHENOTYPICFEATURE$.	has_symptom
+da9fedd541e9fb7e7469cf52a58f10a2bcf04b48	A familial @PHENOTYPICFEATURE$ with X-recessive heredity, distinct from @DISEASE$ (LOA), is described.	has_symptom
+38e68bcf6ff661f2d51d3ed37d94b3372a89c531	This article discusses the clinical features and known genetic information regarding @DISEASE$, dominant optic atrophy, recessive @PHENOTYPICFEATURE$, and Wolfram syndrome.	has_symptom
+ee7dde2a67a0cb0f773711f11d130d6146816ac5	This article discusses the clinical features and known genetic information regarding @DISEASE$, dominant @PHENOTYPICFEATURE$, recessive optic atrophy, and Wolfram syndrome.	has_symptom
+aa5145bbeb270cca5c53bd438ac0a9ecfa9d4c68	@DISEASE$ (LHON) is a distinct form of @PHENOTYPICFEATURE$ with a unique pattern of inheritance.	has_symptom
+93e29bfc36acf7e5fd689174f14e609c9556e0e3	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is an autosomal dominant condition characterised by @PHENOTYPICFEATURE$, developmental delay and subtle cutaneous features.	has_symptom
+d4e437d883a7421503ab73758a9caf47355b566a	@DISEASE$ (BRRS) is an autosomal dominant condition characterised by @PHENOTYPICFEATURE$, developmental delay and subtle cutaneous features.	has_symptom
+ba6aa3b3893ebb67b1ad762148d578e8a83eee8b	@DISEASE$: a cause of extreme @PHENOTYPICFEATURE$ and neurodevelopmental delay.	has_symptom
+cc49ea22182446ca6a3d3238819c42cd9503f6a6	@DISEASE$: a cause of extreme macrocephaly and @PHENOTYPICFEATURE$.	false
+f1380f1c796fc7e53a2979b61d244be1242b80c8	Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme @DISEASE$ and @PHENOTYPICFEATURE$.	false
+87c62d3564314283830615bc0c30e8390c587505	@DISEASE$ is a rare disorder characterized by @PHENOTYPICFEATURE$ and multiple soft tissue and visceral hamartomas.	has_symptom
+8b1bf880465332c65a656f53af1a0481462116b4	@DISEASE$ is a congenital disorder characterized by @PHENOTYPICFEATURE$, intestinal polyposis, lipomas, and pigmented macules of the penis.	has_symptom
+9963a11adbbd65d97577ad892d5e577dad5af007	@DISEASE$ patients with @PHENOTYPICFEATURE$ and vascular anomalies should be considered for PTEN mutation analysis and special medical care.	has_symptom
+650796d19fb658bf7b5ab9d3252563f0487019d7	@DISEASE$ (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by @PHENOTYPICFEATURE$, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis.	has_symptom
+5b52fd42c15feaafc510b92bc7b8215070bd6767	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is a rare autosomal dominant inherited polyposis syndrome characterized by @PHENOTYPICFEATURE$, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis.	has_symptom
+23ab5d2ebd9b3a9ae4a8d503282b5770bfc9e2e3	@DISEASE$ (BRRS) is characterised by @PHENOTYPICFEATURE$, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and mental retardation.	has_symptom
+6a99a4e053c9ab04190eed96f29cc5beeac6c909	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and mental retardation.	has_symptom
+05760877d5c0e969d4edc39ada70baa8b71df856	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is characterised by macrocephaly, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and @PHENOTYPICFEATURE$.	false
+70c421e0c231713d7068501a1d8ade20b58d163e	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is characterised by @DISEASE$, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and @PHENOTYPICFEATURE$.	false
+43da930e21cdaac1602b13b45f2815288dec3bd7	@DISEASE$ (BRRS) is characterised by macrocephaly, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and @PHENOTYPICFEATURE$.	false
+20f04402dbf243ed5728c9e684d5b87fdbe7f05c	@DISEASE$ is a rare entity characterized by @PHENOTYPICFEATURE$ and multiple soft tissue and visceral hamartomas and lipomas.	has_symptom
+4835d457900e9d5ee3cc105f593345d82eb0a28d	@DISEASE$ is a rare hamartomatous disorder, characterized by @PHENOTYPICFEATURE$, multiple lipomas, and hemangiomas.	has_symptom
+f3c6975c0284c62bc4d9be1864d464a0fef1ed32	@DISEASE$ is an allelic disorder characterised by @PHENOTYPICFEATURE$, intestinal polyps, lipomas, and pigmented penile macules.	has_symptom
+e13dd587c23c59d32f5676b4edd3a9fa940d3ec9	The @DISEASE$ (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, skin rash, and headache).	has_symptom
+f54c5e638c12814601e3104eaedabf8878331d96	The hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, skin rash, and headache).	has_symptom
+41ff18f15fc3ec01949aea312a2cf8824b6d8762	The @DISEASE$ (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+7aa418333a7f98630c9a952cb2c1d93e11a42285	The hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+6bc0eb4607ffde129a1658fbb780f277f9f10dc9	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, @DISEASE$, and headache).	false
+122e2c12c9ddbdcaac9c98edecd67a98ac4409d3	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @DISEASE$/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+b35d28604c983f3310558d7d7aee2a0096294617	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive @DISEASE$ characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+f3466c4b1365b1af82adf3b625e8306cd0ae5742	@PHENOTYPICFEATURE$ in methemoglobinemia due to @DISEASE$.	has_symptom
+3477f13d2e3ff6a4cac185c4b4f23c57a5f29bba	Three brothers with congenital recessive methaemoglobinaemia without @PHENOTYPICFEATURE$ were found to be homozygous for NADH @DISEASE$.	has_symptom
+4b93daa31e95e3996d50aa9094424d2bc0e26a05	Methemoglobinemia and @PHENOTYPICFEATURE$ associated with NADH-@DISEASE$ was found in a 2-year-old girl of Spanish origin.	has_symptom
+0a0372865e5fddfbd48455a0eeeff18fb42e055d	The most important ones include: @PHENOTYPICFEATURE$, orthostatic hypotonia, psychiatric syndromes, sleep disturbances, pleuropulmonary and @DISEASE$, vasoconstrictive properties, oedema, hormonal disturbances, as well as dyskinesias.	has_symptom
+dc8f593f52a529e24c449496fd681fd6252022cd	The most important ones include: @DISEASE$, orthostatic hypotonia, psychiatric syndromes, @PHENOTYPICFEATURE$, pleuropulmonary and retroperitoneal fibrosis, vasoconstrictive properties, oedema, hormonal disturbances, as well as dyskinesias.	false
+b621f524a0538d3c55c5ad329f5bd387b033683e	The most important ones include: nausea and vomiting, orthostatic hypotonia, psychiatric syndromes, @PHENOTYPICFEATURE$, pleuropulmonary and @DISEASE$, vasoconstrictive properties, oedema, hormonal disturbances, as well as dyskinesias.	false
+75a14e28da82bd7b4ec3dad46f23de2b2a869b24	We report 8 patients with @DISEASE$ (WG) who suffered from symptomatic urogenital involvement including acute urinary retention related to prostatitis, orchitis, @PHENOTYPICFEATURE$, bladder pseudotumor, and penile ulceration.	has_symptom
+28b20c80b8ddf0f57d58006f76374eeb0157d927	Review of her records revealed that the diagnosis of @DISEASE$ was made at the age of 2(1/2) when the mother reported repeated attacks of afebrile (hypoglycemic) convulsions, increasing abdominal girth and @PHENOTYPICFEATURE$.	has_symptom
+8bc7b6cddffed5019be9a39f748af0a6e7998292	We present a case of infantile @DISEASE$ that was detected at a four month well visit in the presence of hypotonia and @PHENOTYPICFEATURE$.	has_symptom
+778b73ee8aa7ffada43e43799a8287af79ab3f22	This @PHENOTYPICFEATURE$, not reported previously, should be considered to be a neurologic sign in brain-damaged infants with @DISEASE$.	has_symptom
+5cd2124cb316786bf20f8c5debee8bfb364c10e3	Genotype phenotype correlation of 30 patients with @DISEASE$ (SMS) using comparative genome hybridisation array: @PHENOTYPICFEATURE$ in SMS is associated with larger deletions.	has_symptom
+06c7bd85d5d82df0689423a4ab4a070037a8f534	We further suggest that bifid uvula, a micro form of @PHENOTYPICFEATURE$, may well be causally related to de novo NCOR1 haploinsufficiency, in that a previously reported deletion mapping study of atypical @DISEASE$ patients with large deletions and cleft palate identified that NCOR1, the only loss-of-function-intolerant gene within the region, is located in the smallest region of overlap.	has_symptom
+87c94d95464e5815cce77ca6b983f211472b169c	We further suggest that bifid uvula, a micro form of cleft palate, may well be causally related to de novo NCOR1 haploinsufficiency, in that a previously reported deletion mapping study of atypical @DISEASE$ patients with large deletions and @PHENOTYPICFEATURE$ identified that NCOR1, the only loss-of-function-intolerant gene within the region, is located in the smallest region of overlap.	has_symptom
+c0dcfed6fd5f45af157db38d6e0c1672f5f985ca	Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a7b9dfb8940077c88c668a5092165e891411bec2	It is characterized by @DISEASE$-like involuntary movements, cognitive decline, @PHENOTYPICFEATURE$, seizures and polyneuropathy.	has_symptom
+f6cc42a8591aa88c57596e7541b386c02413deb1	It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8d0fb48612550b1bf96e71260ed1576d9438b35c	It is characterized by Huntington disease-like involuntary movements, cognitive decline, @DISEASE$, @PHENOTYPICFEATURE$ and polyneuropathy.	false
+a0b8ec825574c210b41cb80c120168dd37f87e51	It is characterized by @DISEASE$-like involuntary movements, cognitive decline, behavioral changes, @PHENOTYPICFEATURE$ and polyneuropathy.	false
+b117ac564bbe6ec6bf789d4dbbb02f1cd9a8e500	@DISEASE$ (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and @PHENOTYPICFEATURE$, and cognitive impairment.	has_symptom
+37a4a1b7c157d1322a8c6d1ae6fd978ad15077cb	Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1e58c730db5871d3d2e9d0443d985663f234309b	@DISEASE$ (HD) is an autosomal dominant inherited neurodegenerative disease with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and @PHENOTYPICFEATURE$.	false
+45b6048ec64bfcb7f1f53022bdb91f7c790c3841	Huntington's disease (HD) is an autosomal dominant inherited @DISEASE$ with the typical manifestations of involuntary movements, psychiatric and behavior disorders, and @PHENOTYPICFEATURE$.	false
+dbafae116afe3a536ed9accdd7cca00a5f73a9b2	@DISEASE$ (HD) causes severe motor dysfunction, @PHENOTYPICFEATURE$, cognitive impairment and death.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+33d520a0fe26e574139f97231dacecab240f4067	@DISEASE$ (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, cognitive impairment, and @PHENOTYPICFEATURE$, caused by the expansion of an unstable CAG repeat in HTT.	has_symptom
+687562f42c17745eaea770b5c25773ba84fdfbf2	@DISEASE$ (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, @PHENOTYPICFEATURE$, and behavioral changes, caused by the expansion of an unstable CAG repeat in HTT.	false
+a632755c80c4bf47ccd676082cbe3b26f3fb386c	Huntington's disease (HD) is a neurodegenerative disorder characterized by involuntary choreic movements, @PHENOTYPICFEATURE$, and @DISEASE$, caused by the expansion of an unstable CAG repeat in HTT.	false
+de311c96a9223ed1abd3ac0cb701238107a183b8	@DISEASE$, @PHENOTYPICFEATURE$, and kynurenines: preclinical findings and therapeutic perspectives.	has_symptom
+e96498d56b5d438b1be8466dbc3929d114d91cb0	@DISEASE$ is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, @PHENOTYPICFEATURE$, and dementia.	has_symptom
+f59028164d8a1bd7ff163cce91d2ab9372b1c1ad	@DISEASE$ is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a @PHENOTYPICFEATURE$, behavioral disturbances, and dementia.	false
+88e14d0fa3a5b8273d4fffb2b52fbc9e0ae4516a	Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a @PHENOTYPICFEATURE$, @DISEASE$, and dementia.	false
+115e01d88341c04145f383cb9f24474b652e0d77	@DISEASE$ (HD) is an inherited neurodegenerative disorder characterized by motor, cognitive and @PHENOTYPICFEATURE$, caused by the expansion of a CAG trinucleotide repeat in the HD gene.	has_symptom
+9953a7fefbbda03eabbc486ecc5ceaa104e2ded1	@PHENOTYPICFEATURE$ precede neuropathological markers in rats transgenic for @DISEASE$.	has_symptom
+c0d9f3e278f6f32d404b5cf1cbd71d3b69efb797	Clouston syndrome (@DISEASE$) is an autosomal dominant disorder characterized by the triad of nail dystrophy, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+55442c967b6dec34b2f11138e16749a927378541	@DISEASE$ (hidrotic ectodermal dysplasia) is an autosomal dominant disorder characterized by the triad of nail dystrophy, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+96c43e33718c55b0b21c9b39c92fbb17e4b53088	@DISEASE$ is a rare genodermatosis with clinical hallmarks of alopecia, nail dystrophy, and @PHENOTYPICFEATURE$.	has_symptom
+d33f79f667c26c89a8d6e7b35c2edb5615655742	Clouston syndrome is a @DISEASE$ characterized by a triad of generalized hypotrichosis, @PHENOTYPICFEATURE$, and nail dystrophy.	has_symptom
+4b480ce0dc30a0bd0cb944db9aa93b7d8364a48b	@DISEASE$ is a hidrotic ectodermal dysplasia characterized by a triad of generalized hypotrichosis, @PHENOTYPICFEATURE$, and nail dystrophy.	has_symptom
+ca013c2e0dc6acac7f5415420f43f7de658361db	Hidrotic ectodermal dysplasia type 2 (HED2) or @DISEASE$ (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and @PHENOTYPICFEATURE$.	has_symptom
+01d1459f97ec5bbdc3dc6586b7a85a939cfae255	@DISEASE$ type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and @PHENOTYPICFEATURE$.	has_symptom
+bf98fba65457878c3ccf095dbe9d227d8cb078f6	@DISEASE$ is an autosomal dominant disorder characterized by nail dystrophy, partial or total alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+46b2e2bf0d34776a2cab9d740761089d3871253d	@DISEASE$ (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and @PHENOTYPICFEATURE$.	has_symptom
+fcf0e1e82fd3fa43004990c34ebb6690ce35bcb2	@DISEASE$ (CS; also termed hidrotic ectodermal dysplasia) is a rare autosomal dominant genetic skin disorder, characterized by alopecia, nail dystrophy, and @PHENOTYPICFEATURE$.	has_symptom
+a9b718267beea30ccf0b91fc138140e009d87499	Clouston syndrome (CS; also termed @DISEASE$) is a rare autosomal dominant genetic skin disorder, characterized by alopecia, nail dystrophy, and @PHENOTYPICFEATURE$.	has_symptom
+1cb7075cdc2e6ea6cab063d6f41e4d68a6b31ef9	@DISEASE$ is an ectodermal dysplasia characterized by dystrophic nails, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+18a5c7420452df9bb6c344ab2e9e720cd83fa7ff	@DISEASE$ (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and @PHENOTYPICFEATURE$, which maps to chromosome 13q11-q12.1.	has_symptom
+a7e99314a0852e8a8385fd6304d3e5993523d20c	Hidrotic ectodermal dysplasia (HED) or @DISEASE$ is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and @PHENOTYPICFEATURE$, which maps to chromosome 13q11-q12.1.	has_symptom
+d4b8e2017a68c09b530e1d6417e737c1280199d9	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$ and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures.	has_symptom
+72eb4b47fe7933243ef06124fd368036d3d59870	The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, @DISEASE$ and a high-arched or @PHENOTYPICFEATURE$, low-set ears, kyphoscoliosis and joint contractures.	false
+cc687bee7164ebd36b28feb20b1539f4b754366c	The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, @DISEASE$ and a high-arched or cleft palate, low-set ears, kyphoscoliosis and @PHENOTYPICFEATURE$.	false
+d0ea153d7aebb4dbabd8f1683c94e10316d10e34	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or @PHENOTYPICFEATURE$, low-set ears, kyphoscoliosis and joint contractures.	false
+45cb200d309c96d7268ce6317d1920a8b983021c	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and @PHENOTYPICFEATURE$.	false
+dcb71047831143ee1683fb0f2a5205f3f8ee4737	@DISEASE$ (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.	has_symptom
+f40f2ccd9949bc1e55c27662ad292fa9e7cec863	Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, @DISEASE$, high-arched or @PHENOTYPICFEATURE$, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.	false
+f0097a1f87d82eb3b35342a5ddf980b1cf4cb653	@DISEASE$ (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or @PHENOTYPICFEATURE$, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.	false
+c1aca9dad5bb1a0dfc477c996285ef25b0819613	The @DISEASE$ is characterized by a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation.	has_symptom
+c2f6fb0784e8c7eac12cf84a15bdbc9c9c2d6383	The @DISEASE$ is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+8a393a1ec982566c87d03c1bf194166e7f18a54f	The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, @DISEASE$, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+7f2331719023a404ada28ef647ce9895986390cb	The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched @DISEASE$, low-set ears, congenital joint contractures, decreased muscular mass, @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+deac0a79a176a7557ca772ef379bc70a8938812b	A boy with @DISEASE$ who manifested renal Fanconi syndrome by severe hypophosphatemic rickets, @PHENOTYPICFEATURE$, and metabolic acidosis failed to improve with conventional bolus therapy of phosphate and bicarbonate.	has_symptom
+8d96a14dcd43ac7c21aaf70c5089d106110fe1df	Resistance to recombinant human erythropoietin therapy in a child with @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+8016051b9c7ebb20087f9ed46936b4c0c1e65e0f	@DISEASE$ (PH I) is a rare recessive autosomal disorder characterized by systemic calcium oxalate depositions, that results in @PHENOTYPICFEATURE$ and systemic oxalosis.	has_symptom
+e308847f55af412edc630cc83d26546f0fd3b905	@DISEASE$ (PH1) is an orphan inborn error of oxalate metabolism leading to hyperoxaluria, progressive @PHENOTYPICFEATURE$, oxalate deposition, and increased cardiovascular complications.	has_symptom
+fdb360bc219dcdaf38cac7b47e8e00441a5bdb9d	Primary diagnosis was fibro-polycystic liver and kidney disease in 17 patients, @DISEASE$ in 6 patients, and atypical hemolytic uremic syndrome-related @PHENOTYPICFEATURE$ in 2 children.	has_symptom
+90cb4d798b4998f98284b068d60ad3db50333378	All 25 infants with @DISEASE$ (PH) so far reported in detail (including one own observation) presented in @PHENOTYPICFEATURE$ (RF) whereas urolithiasis has conspiciously been absent.	has_symptom
+0c324c4bb5b444c6b870e402fd9f886d8250428f	The sequence of events by which @DISEASE$ (PH1) causes @PHENOTYPICFEATURE$ is unclear.	has_symptom
+4a21bdaa39c19c935262e0c15e93be2afd591d4c	In the majority of patients, the clinical expression of @DISEASE$ was characterized by nephrocalcinosis, urolithiasis, and @PHENOTYPICFEATURE$; pyridoxine sensitivity was associated with better outcome.	has_symptom
+53edb793056ed3874a242889f4f7ddba8798e879	We report the case of a @DISEASE$ patient with @PHENOTYPICFEATURE$ who developed end-stage cardiomyopathy.	has_symptom
+a4fd5af588fca1b0cf9bc665bbc0ee3d91620e2d	Mutations in the alanine-glyoxylate aminotransferase gene (AGXT) are responsible for @DISEASE$, a rare disease characterized by excessive hepatic oxalate production that leads to @PHENOTYPICFEATURE$.	has_symptom
+fbede86c4d47db13078dd04a07e9e984c3a4e173	@DISEASE$ (PH1) usually presents with recurrent urolithiasis, nephrocalcinosis and progressive @PHENOTYPICFEATURE$ at a relatively young age.	has_symptom
+a23df602eaeeb4a59be923d28ce620effae88b52	We report on a unique patient with @DISEASE$ (MELAS) presenting @PHENOTYPICFEATURE$, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent.	has_symptom
+d375be767686e30c5bcf527b5402797bd917312f	Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as @DISEASE$, Down syndrome, @PHENOTYPICFEATURE$, type 1 diabetes mellitus, and cystic fibrosis.	has_symptom
+226ab6c76ccffb8cf9189a05b19734e7b050eb53	We propose that the association among @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, cardiac anomaly, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.	has_symptom
+6fa14c8a9cbee3cf1ce115b119ab0c508924f234	We propose that the association among @DISEASE$, spina bifida, epilepsy, @PHENOTYPICFEATURE$, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.	false
+d564ff1ce5dbd395f8b2747885d0bc613784c7c7	We propose that the association among DiGeorge syndrome, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.	false
+f95abd1dc6bdf3e5f076dbe1820ea465c1356187	We report, for the first time, the case of a patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizures and epilepsy.	has_symptom
+2e7d5b5adcebb69b8aff1c26dbb2db3ebd341a99	We report, for the first time, the case of a patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+38a05aa09b2c78b15a6c8fb40cef1dd90696a758	We report, for the first time, the case of a patient with DiGeorge syndrome with @DISEASE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+365234afef1b870e8976c0c4e8b7636e1112bb71	A patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.	has_symptom
+a43b41b7cc0fe58cb9d854655aeb1a1a5fa14ddf	A patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+ea64d0751866af64269c9a3c166a5274164d8a83	A patient with DiGeorge syndrome with @DISEASE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+2e56d231b1c21e6aaf0068a7609ec93d22cd5dc1	The causes varied from benign such as postviral acute @PHENOTYPICFEATURE$ and benign paroxysmal vertigo to potentially life-threatening such as intoxication with benzodiazepines and @DISEASE$.	has_symptom
+eb4919bb9ac436991e0d2abd50d63864c29096ce	The origin and long-term outcome of cerebellar mutism syndrome (CMS), a postoperative syndrome of diminished speech, hypotonia, and @PHENOTYPICFEATURE$ that affects approximately 25% of patients with @DISEASE$, is poorly elucidated.	has_symptom
+4823fce4a63ad4747760ba86699c3933eb5599e8	'Sam' was a six-year-old boy with @DISEASE$ causing obstructive hydrocephalus and @PHENOTYPICFEATURE$.	has_symptom
+7d85c6b4f49f28e9b28536b1ce39d0d70a221e54	Fine motor function, extent of @PHENOTYPICFEATURE$ and cognitive function were assessed in 25 @DISEASE$ (MB) and 16 cerebellar pilocytic astrocytoma (PA) patients at least 1 year after completion of therapy.	has_symptom
+fcd36c9d48106648ae3ab4d130d5bd4d0316527e	@PHENOTYPICFEATURE$ dysarthric speech characteristics are more frequent in radiated survivors of @DISEASE$ tumors than nonradiated survivors of astrocytoma tumors.	has_symptom
+21afd6f96627b2c4681ab467ba369b8f92c3f507	Ataxic dysarthric speech characteristics are more frequent in radiated survivors of @DISEASE$ tumors than nonradiated survivors of astrocytoma @PHENOTYPICFEATURE$.	false
+66c27b47784d199b9ac05a5ff94b97f74108a188	@DISEASE$ dysarthric speech characteristics are more frequent in radiated survivors of medulloblastoma @PHENOTYPICFEATURE$ than nonradiated survivors of astrocytoma tumors.	false
+f03747b7976185309e1c4b3267a39ce674476056	@DISEASE$ dysarthric speech characteristics are more frequent in radiated survivors of medulloblastoma tumors than nonradiated survivors of astrocytoma @PHENOTYPICFEATURE$.	false
+d242505706ddf370ec133d51f4365d2eb9615e98	Ataxic dysarthric speech characteristics are more frequent in radiated survivors of medulloblastoma tumors than nonradiated survivors of @DISEASE$ @PHENOTYPICFEATURE$.	false
+485f7555a89bb56b60d8689ca3918759a598cf40	Ataxic dysarthric speech characteristics are more frequent in radiated survivors of medulloblastoma @PHENOTYPICFEATURE$ than nonradiated survivors of @DISEASE$ tumors.	false
+5821c8c2a8b2655de99e45a29a9b5d68f186aad2	Ataxic @PHENOTYPICFEATURE$ characteristics are more frequent in radiated survivors of medulloblastoma tumors than nonradiated survivors of @DISEASE$ tumors.	false
+84a00cf24606f9f878df98a84c7f16107168975e	@DISEASE$ @PHENOTYPICFEATURE$ characteristics are more frequent in radiated survivors of medulloblastoma tumors than nonradiated survivors of astrocytoma tumors.	false
+845ba8a2e5d6f85967cacd654ca374b33dcd95e5	Ataxic @PHENOTYPICFEATURE$ characteristics are more frequent in radiated survivors of @DISEASE$ tumors than nonradiated survivors of astrocytoma tumors.	false
+a8886fbff3d4c32665bc14a400f6eb90dd3d9d9a	Ataxic dysarthric speech characteristics are more frequent in radiated survivors of @DISEASE$ @PHENOTYPICFEATURE$ than nonradiated survivors of astrocytoma tumors.	false
+b2f6e00f09f232b6430ef7be5d3b9a2624d29a8f	@PHENOTYPICFEATURE$ was significantly more pronounced in @DISEASE$ patients.	has_symptom
+bd3b886569262acf07c0cac19d63a0d5ad6d4847	@DISEASE$ survivors had significantly more @PHENOTYPICFEATURE$ dysarthric features than either survivors of astrocytomas or controls, who did not differ from each other.	has_symptom
+303c02d78744e4fb685ca55bb773b62918ade950	Higher @PHENOTYPICFEATURE$ and lower physical function scores were demonstrated in children with @DISEASE$ and midline tumors and those diagnosed with CMS.	has_symptom
+a5ce63e3fa32b1a8eebc51569aac2d6f5fc24626	Higher ataxia and lower physical function scores were demonstrated in children with @DISEASE$ and midline @PHENOTYPICFEATURE$ and those diagnosed with CMS.	false
+8e5d5bc687415c8d2bc81caf3660e0b5cbb0866b	Higher ataxia and lower physical function scores were demonstrated in children with medulloblastoma and midline @PHENOTYPICFEATURE$ and those diagnosed with @DISEASE$.	false
+0e3014ae84fd6edaeb16a35565129b1d0527e276	Higher @DISEASE$ and lower physical function scores were demonstrated in children with medulloblastoma and midline @PHENOTYPICFEATURE$ and those diagnosed with CMS.	false
+005604000405f51c4956d034d5951420dd632842	@DISEASE$ usually cause @PHENOTYPICFEATURE$ and acute hydrocephalus owing to their increase in size.	has_symptom
+93a0a574aad7523facb334aeca938c6b50ce5272	@DISEASE$ usually cause cerebellar ataxia and acute @PHENOTYPICFEATURE$ owing to their increase in size.	false
+5369a11b146ac98c64fe205464a9e9df3c20c7d9	Medulloblastomas usually cause @DISEASE$ and acute @PHENOTYPICFEATURE$ owing to their increase in size.	false
+540b7f32e67dbaaea4e73fe2dc3d9d080a20a7a7	Dysfunction of this process underlies many neurological diseases including @PHENOTYPICFEATURE$ and the most common pediatric brain tumor, @DISEASE$.	has_symptom
+7add69157a5a99bfdf650290d7cb884730f7a933	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @PHENOTYPICFEATURE$.	has_symptom
+f808cf57ae57a028c25b2fa4fa4eb89e58d5f922	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @DISEASE$.	false
+cca59274844fbb1671e420bbbba72ce9b5bf708a	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+f809720b0164ae9cf6e02a4f35cf2005f27f9c18	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+b45452b54508166c3301cf79780a16e9d7398bc5	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @DISEASE$.	false
+8a11217884f4a3e5c34bb25f1263ed974e34b805	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @PHENOTYPICFEATURE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+ed21b220dfb8cf6297712f523fc62fe617414615	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @PHENOTYPICFEATURE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @DISEASE$.	false
+ec679759e553156b191dfd163bd9f157694b302d	Only implantable cardioverter defibrillators (ICD) have been proven to prevent @PHENOTYPICFEATURE$ (SCD) in patients with @DISEASE$ (BrS).	has_symptom
+18ed978bce3e570b88d7413c60c8f0236807dc8a	Baraitser-Winter syndrome (@DISEASE$, type 3) is a rare developmental disorder typified by hypertelorism, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	has_symptom
+dc9c3fedb18b685f1e62beca9efce7479f80ed3c	Baraitser-Winter syndrome (@DISEASE$, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+5ed55397da8e7a5daf95b96260be29852b5a8c31	Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, @DISEASE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+8204f85e001404deb8a1b67058672be53ff96228	@DISEASE$ (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+ac64729dafd1edb9b849998ae838634dc1fe4e42	The several forms of myasthenia gravis that occur in infancy include transient neonatal @PHENOTYPICFEATURE$, congenital myasthenia, and @DISEASE$ gravis.	has_symptom
+c5457b9ba959d8093123e6c46fc9240edddb6f41	A 14-year-old female with @DISEASE$ presented with @PHENOTYPICFEATURE$, corneal opacities, cirrhosis, and cardiac valvular involvement.	has_symptom
+b708fedcb01628c086e7613024e66e4092c8554c	A 14-year-old female with Gaucher disease presented with @DISEASE$, @PHENOTYPICFEATURE$, cirrhosis, and cardiac valvular involvement.	false
+f90dc1d0699082b530162f874fe182a5a823c0c5	A 14-year-old female with Gaucher disease presented with hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, and cardiac valvular involvement.	false
+aab8951b49763223d13634a135685b39422ce78f	A 14-year-old female with @DISEASE$ presented with hydrocephalus, @PHENOTYPICFEATURE$, cirrhosis, and cardiac valvular involvement.	false
+5c29fb4b3403695c5e1c8f065b497ea2ad735543	Cardiovascular fibrosis, @PHENOTYPICFEATURE$, ophthalmoplegia, and visceral involvement in an American child with @DISEASE$.	has_symptom
+bcd0bf01e766ee5738d4df0bdc40b9c3b5676621	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	has_symptom
+b48b63eff2dc2f727b9b675b3d2c276a869a6d12	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+69fb925c49f6bdc0ac00caa6c31aeb8be510d1d4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+ed0dccdc87030a20943d172c409a234cfb37c88a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, @DISEASE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+0445b8696ba41afa1ae46133d8ecf6644c23cdc5	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+6c0b5253534648cafad296fe0c97f1870dd7d1a9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e895941f99f316a74063e84928d1b35dd2a5c38e	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+f444d8cfa3b092cac7c5cc60fe3d010703c0b1d8	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c783780f2dc9bf6f4bdd455f3b9d79bc47e388d0	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d56daeaf7f7ef28999838f2b71a9315abe206f50	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, @DISEASE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e0476b60cc771eca4aaee5212167750e0d1470ed	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+049cd0d1912b049f371fbf8e9091dcd7b85f1dfe	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c2ba37413b6fa3e442c88d21a47e83f129b538e7	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cb8caa8c097e0c4f6abc09c938a1d0b301246bb9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+1361194bbeb8819f6e53e4bce21025973d7a8e0e	@DISEASE$ comprises retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, mental retardation, renal and genital anomalies.	has_symptom
+9a8267cee6e5b0950d59e8719680d45b06793e5a	BBS-6 comprises @DISEASE$, polydactyly, obesity, @PHENOTYPICFEATURE$, renal and genital anomalies.	false
+082fced2219d3eeb8eb492845394fb88fe49ad91	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, @PHENOTYPICFEATURE$, renal and genital anomalies.	false
+d0f5a3357cb0d101616d4cec0f91657e9b8e5e3c	BBS-6 comprises retinitis pigmentosa, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, renal and genital anomalies.	false
+07fcccc483af0429955715c545e7f2c0112d933f	BBS-6 comprises retinitis pigmentosa, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, renal and genital anomalies.	false
+f0b85665ae76a38d483f9ba7acf5b1b73c0091b1	@DISEASE$ comprises retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, mental retardation, renal and genital anomalies.	false
+a8f5361e5047391ca8d931ce1a872c6dd82eb51c	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+f513c624cd5f3194cb4d3276548baf4f32d80dc5	BBS-6 comprises retinitis pigmentosa, polydactyly, @DISEASE$, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+b91914ff8443eab988c13264c475b7f874ad1413	BBS-6 comprises @DISEASE$, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+36d2dd897b9e4212ab28cafb31df6abe4c96a000	BBS-6 comprises @DISEASE$, @PHENOTYPICFEATURE$, obesity, mental retardation, renal and genital anomalies.	false
+8bbb1d9fdd534512be253beb427a094c11e95aa9	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @PHENOTYPICFEATURE$, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	has_symptom
+9782e461b4c82cadf66e59de9c136920b67be132	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin @PHENOTYPICFEATURE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+d947a284a856fdae3922e6e53a6d5b75d28d8eae	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @DISEASE$, hepatic injury, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+ab782b5677135c9b09ec2745494eefa2693cca17	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin @PHENOTYPICFEATURE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+cdd89a4b89710c5447b59570d213c7ee9d548187	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+05b72a3958f42ff30ef06358925f3e6e33a02308	The essential features of TOS were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+b1c4c717ad3b49960c8166f5b9e71572b94d623a	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+2b98b9706b04bd8079b364a3e4724b05347e9fd0	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+7d44ea464b28e3fcaba8fea41d893432d8f4ab56	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @DISEASE$, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+28de4f2ad70d345ceb6c196d7e276cda44d93c23	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+c59f4a9bd2fa181c0b7b9eb3733e1531938c606a	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+9fbb072e909c8abb1637402c19c10120961fb3ba	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+045ce250893ab151f49000d035afc20617e0d9b1	The essential features of TOS were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, @DISEASE$, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+4c4719e4bd512d14738f53019fe7238166fb3ba7	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin @PHENOTYPICFEATURE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+d90a3b05d6cbbf6f316e5215745a99a3965cf6c0	The essential features of @DISEASE$ were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+c90e4c2c44010b8b9f08c1a61260fe683b3859e9	The essential features of TOS were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+39e87782a6e9d2d9b4353e3772ee4e15fe04719f	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @DISEASE$, hepatic injury, skin @PHENOTYPICFEATURE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+577a369f6de0c89546ce4697ac557bf8d1a39428	It is not well known whether systemic iron overload per se in @DISEASE$ (HH) is associated with @PHENOTYPICFEATURE$ before other signs and symptoms of cardiovascular disease occur.	has_symptom
+8b151f097e564413104259a2d83e1173b141760a	@DISEASE$ is a rare condition characterized by @PHENOTYPICFEATURE$ and distinct facial features.	has_symptom
+da0bc53bbbb2fb7010f11c71946aacf85af5aa5b	Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked @PHENOTYPICFEATURE$ @DISEASE$ (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism.	has_symptom
+9652f66e144656f7f3e4d4416e3b495cc3861cdb	Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked mental retardation @DISEASE$ (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of @PHENOTYPICFEATURE$.	false
+d024eccc37ee46b7a16af2d0c8c2159db1001b86	Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked @DISEASE$ Siderius-Hamel syndrome (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of @PHENOTYPICFEATURE$.	false
+63185627c6f6d271b353dc3591a8b531b6ad61fe	Radiofrequency ablation of ventricular fibrillation and multiple right and left atrial @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+beb0d0d1c2a1245ad43abf37042e7496a06f3be7	Although arrhythmogenic right ventricular cardiomyopathy is the focus of this review, several other pathologies that may mimic arrhythmogenic right ventricular cardiomyopathy, including right ventricular outflow tract @PHENOTYPICFEATURE$, Wolff-Parkinson-White syndrome, @DISEASE$, pulmonary embolism, cardiac sarcoidosis, myocarditis, and right ventricular infarction, are also included.	has_symptom
+2ac28cea271afe89c1751633b19e977ce5b068b9	Clamikalant is a cardioselective blocker of the ATP-dependent potassium channel (KATP) which is under development by @DISEASE$ Pharma (formerly Hoechst Marion Roussel) for the potential treatment of @PHENOTYPICFEATURE$.	has_symptom
+50c5e1e8dcc5257f247cb0a928e381dbbe8a8784	@DISEASE$ is characterized by interstitial @PHENOTYPICFEATURE$, vestibular impairment and hearing loss, commonly bilateral.	has_symptom
+d837ae8ba4f51b2d6b897e7c83b328b6f5104f41	Autoimmune reactivity against corneal antigens is described in two patients with @DISEASE$, a nonsyphilitic deep interstitial @PHENOTYPICFEATURE$ with vestibuloauditory symptoms.	has_symptom
+1f839fa053a576e1797d921b8da885d14e6fd252	Furthermore, @DISEASE$, a chronic disease characterized by deafness, vertigo @PHENOTYPICFEATURE$ and aortitis, has been associated with IBD and mainly with Crohn's disease.	has_symptom
+f233abe09a7795548a86c7fc07091f90ab2220cc	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ keratitis and aortitis, has been associated with IBD and mainly with @DISEASE$.	false
+8b5eceed8c1cb6bcd780d83740426ef33770c2e0	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and aortitis, has been associated with IBD and mainly with @DISEASE$.	false
+a22fbb124fcf7d5cc767df53d5468dec2696eaec	Furthermore, @DISEASE$, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ keratitis and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+0bbb77dad26dad70e3d45c76e6bdc48106262c07	Furthermore, @DISEASE$, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+f47d020cbabb73af1047b8cb85d1d51c267ef11a	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and @DISEASE$, has been associated with IBD and mainly with Crohn's disease.	false
+e2fb6ae1dcc332f6378e00fb4b86787f7fcc704a	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ @DISEASE$ and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+f580f1eb9fc441c4c7dd9630780e5eba16616f48	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ keratitis and aortitis, has been associated with @DISEASE$ and mainly with Crohn's disease.	false
+1b240dfe16a6348c1bb20d731b3baa0817f52a46	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ keratitis and @DISEASE$, has been associated with IBD and mainly with Crohn's disease.	false
+16b389720b4ff59ff82b24ece9464208dd23d697	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo @DISEASE$ and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+50f635dee156f1d38145bf2a8a80b22c3c7938f5	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and aortitis, has been associated with @DISEASE$ and mainly with Crohn's disease.	false
+fc07f2fd4afd8768f6e2ee7a0ed40e848307307e	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of vertigo, tinnitus, and hearing loss.	has_symptom
+f62ba1f94aa72542dc5a3cb88657064f04241f10	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial keratitis and attacks of vertigo, @PHENOTYPICFEATURE$, and hearing loss.	false
+9d6e33b752115f91393457d4246efcf1a8bbe0ca	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial @DISEASE$ and attacks of @PHENOTYPICFEATURE$, tinnitus, and hearing loss.	false
+6b118cea50dc2b5f42bc4718f7174c16a92a7c92	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial keratitis and attacks of @PHENOTYPICFEATURE$, tinnitus, and @DISEASE$.	false
+1ec62511e3b23a6bcb263e7c062de8b5819c832e	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial keratitis and attacks of @PHENOTYPICFEATURE$, tinnitus, and hearing loss.	false
+9fc8932406b9cedba5db1c2d631d33f4f053e34d	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial @DISEASE$ and attacks of vertigo, @PHENOTYPICFEATURE$, and hearing loss.	false
+23c76b04699e458050ddfba8a3e1ec1cab3e0d06	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial keratitis and attacks of vertigo, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4039ea14ec8f33e793c6f9952f7501c5572a2d60	The association of sensorineural hearing loss and vertigo with inflammatory eye disease, usually interstitial @PHENOTYPICFEATURE$, has been called @DISEASE$.	has_symptom
+fdecd95864c1ae4f275ec2ed5eda452863ea49b2	The association of @PHENOTYPICFEATURE$ and vertigo with inflammatory eye disease, usually interstitial @DISEASE$, has been called Cogan's syndrome.	false
+8f5fd5f239c010b1d3a15d305d43aa7012ff1398	The association of sensorineural hearing loss and @PHENOTYPICFEATURE$ with inflammatory eye disease, usually interstitial keratitis, has been called @DISEASE$.	false
+b3f42be2c868ae3b4a3ef765ccbf01ddaa8c8be7	The association of @PHENOTYPICFEATURE$ and vertigo with inflammatory @DISEASE$, usually interstitial keratitis, has been called Cogan's syndrome.	false
+aac4604e9c73876d936cf9932df4ee0789b67199	The association of sensorineural hearing loss and @PHENOTYPICFEATURE$ with inflammatory @DISEASE$, usually interstitial keratitis, has been called Cogan's syndrome.	false
+7d361b429db1ba039418a3cc946d22e75b307fe7	The association of @PHENOTYPICFEATURE$ and vertigo with inflammatory eye disease, usually interstitial keratitis, has been called @DISEASE$.	false
+4ca695dc223b16187dea41e6c24afa0a61fe94d0	The association of sensorineural hearing loss and @PHENOTYPICFEATURE$ with inflammatory eye disease, usually interstitial @DISEASE$, has been called Cogan's syndrome.	false
+e9e026532cb52e878244cff0157754b44a925c7a	Three patients were affected by classic @DISEASE$ (i.e., vestibuloauditory symptoms and later sensorineural hearing loss and interstitial @PHENOTYPICFEATURE$).	has_symptom
+9b1d940a7cb235aefc7bc93b4352fed55c68a6cf	For example, Tibetan terriers with @DISEASE$ develop @PHENOTYPICFEATURE$ not reported in KRS patients and KRS patients exhibit parkinsonism and pyramidal dysfunction not observed in affected Tibetan terriers.	has_symptom
+756b482d9d086467bac88555e7a9f0a31eb6df9d	Many causes of @DISEASE$ are also risk factors for @PHENOTYPICFEATURE$.	has_symptom
+6fd8a0a2603c2ed0f525e1b7cd362fb01980d4c1	Adrenal insufficiency secondary to @DISEASE$ deficiency is often unrecognised despite the risk of severe @PHENOTYPICFEATURE$ and hypoglycaemia with brain damage.	has_symptom
+b2e654906888fe5387d6762d10f4997dbd5fad79	Early but impressive data suggest that NICU-CEEG has a significant clinical impact in patients with @DISEASE$, uncontrolled @PHENOTYPICFEATURE$, or coma.	has_symptom
+7cb1ab6c3da9cccbe24bbda26dc58435efe7ea82	Several unexplained symptoms in a child, mainly gastro-intestinal symptoms and @PHENOTYPICFEATURE$ due to hypoglycemia, may indicate @DISEASE$ deficiency.	has_symptom
+5f1e888e163f2419ff2d5bb8727e60f078e43f00	Several unexplained symptoms in a child, mainly gastro-intestinal symptoms and @DISEASE$ due to @PHENOTYPICFEATURE$, may indicate ACTH deficiency.	false
+370286661c2f203b3e9f57f4f3d8ce88be2281cc	Several unexplained symptoms in a child, mainly gastro-intestinal symptoms and seizures due to @PHENOTYPICFEATURE$, may indicate @DISEASE$ deficiency.	false
+85b75df85d6ff5578214e03637a9269e05b70546	Atypical presentation of @DISEASE$ can range from non-chest pain to an @PHENOTYPICFEATURE$.	has_symptom
+285403ce65ee98f88a9861274f0d80818310f5ea	All patients developed neurologic complications resulting from @DISEASE$ episodes, including @PHENOTYPICFEATURE$ (n = 2), silent cerebral infarcts (n = 3), cerebral hemorrhage (n = 2), and reversible posterior leukoencephalopathy syndrome (n = 3).	has_symptom
+70016e898cbd812a127ab04cf58caa033f06caa9	These results are consistent with the hypothesis that some infantile @PHENOTYPICFEATURE$ unrelated to brain injuries could originate from an @DISEASE$ deficiency at central level and/or an imbalance of neuropeptidergic pathways.	has_symptom
+b988f950a10352186fb4b70b2459fedf155cc6b0	These results might support the hypothesis that, instead of originating from an increased abundance of CRH, which can act as a rapid and potent convulsant, some infantile @PHENOTYPICFEATURE$ could be caused by an @DISEASE$ deficiency.	has_symptom
+65cf7a7fd31d09970b1169ae8d683646dce97658	In children aged <18 years, risk factors for @DISEASE$ were: family history of @PHENOTYPICFEATURE$ (OR=3.31;	has_symptom
+adb9f88765ce4c83d6fd7d84a19180c3d917db8b	Half (51%) of the 2,170 people with @DISEASE$ were children and 69% of @PHENOTYPICFEATURE$ began in childhood.	has_symptom
+cf4d294a949c70c9787d0152eb6a7162e7cd6284	Most patients with @DISEASE$ have progressive ocular and cerebral dysfunction, including cognitive/motor dysfunction and uncontrolled @PHENOTYPICFEATURE$.	has_symptom
+6fd7f660642fe7f47277fb0953c9413a6cb5546c	Patients with adult-onset @DISEASE$ may present with slowly progressive ataxia, persistent photosensitivity, and @PHENOTYPICFEATURE$ without dementia or extrapyramidal findings.	has_symptom
+e5e61dd3e90f159d661b44dcfd6c7d6232d20b47	Clinical manifestations of @DISEASE$ are progressive mental and motor deterioration, @PHENOTYPICFEATURE$, and visual loss.	has_symptom
+e817864f2e618e0cb3dda72a677a8748ed03142d	Clinical manifestations of @DISEASE$ are progressive mental and motor deterioration, seizures, and @PHENOTYPICFEATURE$.	false
+dd5584cb8bcffcb8a982d9ee19467885405309ce	Clinical manifestations of NCL are progressive mental and motor deterioration, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+cf4d294a949c70c9787d0152eb6a7162e7cd6284	Most patients with @DISEASE$ have progressive ocular and cerebral dysfunction, including cognitive/motor dysfunction and uncontrolled @PHENOTYPICFEATURE$.	has_symptom
+7829977b07ccee167ef27522ed84a891f1d7a7e5	A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	has_symptom
+11807113c8e3a2d88f4622fcdd5e45121b8a8031	To present clinical, genetic, biochemical, and molecular findings in a family with three sisters with @DISEASE$ (CAIS) and bilateral @PHENOTYPICFEATURE$.	has_symptom
+cf752493724331b0666ca37f64d06b36a4f60976	Postnatally, in keeping with a diagnosis of @DISEASE$, there were large fontanelles, @PHENOTYPICFEATURE$, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck.	has_symptom
+47c6755b46811ca85b6ab182c36c73ce0815ed0b	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, broad head and other facial abnormalities such as hypoplastic maxilla and distinctive ocular abnormalities.	has_symptom
+0901ae06d44b5ff3ec1540339cf3b172e50f9b91	@DISEASE$ is characterized by short stature, broad head and other @PHENOTYPICFEATURE$ such as hypoplastic maxilla and distinctive ocular abnormalities.	false
+bf6bedf1e0893d7d630755b184067ef5c8ed5819	Weill-Marchesani syndrome is characterized by @DISEASE$, broad head and other @PHENOTYPICFEATURE$ such as hypoplastic maxilla and distinctive ocular abnormalities.	false
+95a6b10eeb218f74d15f60b7efb02f38903359bf	@DISEASE$ can present wwith progressive myopia in a person of @PHENOTYPICFEATURE$ and brachydactyly.	has_symptom
+fa089936e348a6090501a51ab49ccaa4b0c79684	Weill-Marchesani syndrome can present wwith progressive myopia in a person of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4021add90e3e55d5d6faeeaf752fc8e2f855808d	Weill-Marchesani syndrome can present wwith progressive @DISEASE$ in a person of short stature and @PHENOTYPICFEATURE$.	false
+c57d2c1e2e6d11b93cfd3ee5082573ea319658a9	@DISEASE$ can present wwith progressive myopia in a person of short stature and @PHENOTYPICFEATURE$.	false
+da0dd459254805ff500e4ce15e28ddfaad7811f2	The other two were sibs with @PHENOTYPICFEATURE$ and their parents were heterozygous for the @DISEASE$.	has_symptom
+994d693bcd996a95f1f6024937b91a996679e3f1	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	has_symptom
+fe320ada61c472dfd2ad646f69cb4cfc84963f30	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+89b429317b452d17b82afce4482adf1eca8855e3	Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by @DISEASE$, brachydactyly, and @PHENOTYPICFEATURE$.	false
+877b9890cceb7c8a644a018566dbe213e850f76f	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, @PHENOTYPICFEATURE$, and joint contractures.	false
+0c689d72d1aa3e91def858c9b1ffc8ae3fb43a92	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, @PHENOTYPICFEATURE$, and joint contractures.	false
+141bf129d5bfc0d9f7f28bf0ed9fc73f6390d410	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+e338f4c962f5510a7313e74e38c27607523ee5a4	Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by @DISEASE$, @PHENOTYPICFEATURE$, and joint contractures.	false
+febec93b7e4eeba289fb792195b20908dc8b1b12	@DISEASE$ comprises @PHENOTYPICFEATURE$, brachydactyly, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	has_symptom
+0adab2161dc1792cca7d663068361ead72de903c	Weill-Marchesani syndrome comprises short stature, @PHENOTYPICFEATURE$, microspherophakia, @DISEASE$, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	false
+ac937ab2e39125a48d380751240e6673676ffb26	Weill-Marchesani syndrome comprises @DISEASE$, @PHENOTYPICFEATURE$, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	false
+a838538434b7ba85a4cc21c27251f4d08cb942f5	Weill-Marchesani syndrome comprises short stature, @PHENOTYPICFEATURE$, microspherophakia, glaucoma, and @DISEASE$ is regarded as an autosomal recessive trait (McKusick 277600).	false
+acfd50c4614d6cc58e39bc5880660457d6ddda95	@DISEASE$ comprises short stature, @PHENOTYPICFEATURE$, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	false
+c932fb7451f540f601d33a71eccb165161aecf15	FBN1 mutations are also associated with acromicric (AD) and geleophysic dysplasias (GD), and with @DISEASE$ (WMS), which is characterised by @PHENOTYPICFEATURE$.	has_symptom
+400f9da7e4ccb8253e0f164bbd806be3d9a869d3	@DISEASE$ is a rare, generalized disorder of connective tissue manifested by @PHENOTYPICFEATURE$, brachymorphia, and spherophakia.	has_symptom
+e6605b799d8b948ac9093da78db1cbab1b9a6ec8	The patient demonstrates the known clinical signs of @DISEASE$: @PHENOTYPICFEATURE$, microspherophakia, lens subluxation, and secondary glaucoma.	has_symptom
+32c5852719352d1a7dca1aa18e158322f4658031	The @DISEASE$ is a rare systemic connective tissue disease characterised by @PHENOTYPICFEATURE$, brachydactyly, ectopia lentis, and spherophakia.	has_symptom
+09a32d37fdd505852a3bccae2057392024553ee9	The @DISEASE$ is a rare systemic connective tissue disease characterised by small stature, @PHENOTYPICFEATURE$, ectopia lentis, and spherophakia.	false
+7600fa3fbd8e077029e5603738e985e916f38bc7	The Weill-Marchesani syndrome is a rare systemic @DISEASE$ characterised by small stature, @PHENOTYPICFEATURE$, ectopia lentis, and spherophakia.	false
+e842662fba232a31c717e460e007896895bb415a	The Weill-Marchesani syndrome is a rare systemic connective tissue disease characterised by @DISEASE$, @PHENOTYPICFEATURE$, ectopia lentis, and spherophakia.	false
+66bbe6f2ec591c1ac4b8dafbc778c477a8040417	@DISEASE$ is characterized by spherophakia, @PHENOTYPICFEATURE$, short hands/feet, joint stiffness, and occasional cardiac abnormalities.	has_symptom
+504365972349bfd5f68a1b385b12854df5c8ed4d	Weill-Marchesani syndrome is characterized by spherophakia, @DISEASE$, short hands/feet, joint stiffness, and occasional @PHENOTYPICFEATURE$.	false
+a7be0f6d7625f13135a261a16b139f25192bf574	@DISEASE$ is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional @PHENOTYPICFEATURE$.	false
+46b61c42dd5e4c8a2db2796937dd927d5f4b8945	An example of such a hereditary condition is @DISEASE$, which leads to degeneration of nerve cells in the brain, resulting in mental deterioration, @PHENOTYPICFEATURE$ and early death.	has_symptom
+b342e78464f7f7b6b2e843d08170393722f493ec	An example of such a hereditary condition is @DISEASE$, which leads to degeneration of nerve cells in the brain, resulting in @PHENOTYPICFEATURE$, blindness and early death.	false
+7d54b5bafb413b8aaafde593330b67b240acb082	An example of such a hereditary condition is Tay-Sachs disease, which leads to degeneration of nerve cells in the brain, resulting in @PHENOTYPICFEATURE$, @DISEASE$ and early death.	false
+57e3ef8fabcd933c19edf78bd0f9ba7db4abe0de	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, @PHENOTYPICFEATURE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	has_symptom
+eda397022a8172fb2f9e589c545efdc19fef12ad	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @PHENOTYPICFEATURE$, deafness, blindness, spasticity, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+66f64d631b4d9e5f179a2f9047001fa6f07fe3d5	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, @PHENOTYPICFEATURE$, blindness, spasticity, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+a8c9a5507c6b3cb893d810acbced25b84c69b7b3	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, @DISEASE$, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+3b24aeaab07c0a737bc7ee169e38b7b9e226d4c4	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @PHENOTYPICFEATURE$, deafness, @DISEASE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+c0d56f4fde137bae9f7c2573a3e02a03d549f751	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+97f93f7cc798d523137c5ddc79fd0936fd3da4f3	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, @PHENOTYPICFEATURE$, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+047ecdfe6caa2df90fde7307b053d356a76d5b0f	The clinical manifestations of @DISEASE$ include progressive developmental delay, @PHENOTYPICFEATURE$, deafness, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+0e14454d21a8933b1549d7bb0b5f0501768c45b3	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, @PHENOTYPICFEATURE$, @DISEASE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+0beea8ab01fae64d32b8046e57abc22dfca927dd	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+ed032e4fdc4ebeb34c0bf8a96cb6f5b549f489ae	Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), @DISEASE$ (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or @PHENOTYPICFEATURE$; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1).	has_symptom
+7b0d811f96215809664e93f6f4dc0eaa957a4ba9	We report a girl with @DISEASE$ in whom @PHENOTYPICFEATURE$ was recorded over a long period.	has_symptom
+079f627f27d85ebfbbda8b492d3ed8a3d616719a	@DISEASE$ is the most aggressive primary @PHENOTYPICFEATURE$.	false
+2c8de5caa4b69d39577c8b1fafe038202da4c27c	Cerebrotendinous xanthomatosis (@DISEASE$, MIM 213700) is a rare @PHENOTYPICFEATURE$ lipid storage disorder caused by CYP27A1 mutations.	has_symptom
+b6f04f904d6c9cdf044f92e135adb0d0913a74e9	@DISEASE$ (CTX, MIM 213700) is a rare @PHENOTYPICFEATURE$ lipid storage disorder caused by CYP27A1 mutations.	has_symptom
+8115cdc6fd3e8218a563cd65162011048ac6f0fa	To perform histological examination of temporal bones acquired from an infant with @DISEASE$ with an emphasis on identifying abnormalities that might be responsible for @PHENOTYPICFEATURE$ in this disorder.	has_symptom
+29198c672ffecf8edf4bf79d0c1abeabe4b4d6de	In addition to the presence of otitis media, the likelihood of congenital abnormalities of the middle and inner ear should be considered in the assessment of patients with @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+67ed5fb0ac91467df05ea1b6aaa074f288a34b59	Histopathological basis of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+878329b506894b9e7c3bbd562a0db75e5e294915	@DISEASE$ (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, @PHENOTYPICFEATURE$, and maxillary hypoplasia.	has_symptom
+7db74ace7705fd65986faae6459010495a9420f6	@DISEASE$ (CS) is characterized by premature craniosynostosis, orbital @PHENOTYPICFEATURE$, and midfacial hypoplasia and is related to the acrocephalosyndactylies (ACS) with limb abnormalities.	has_symptom
+f66c8cf5408a336609a073f267022b5cb89903a8	Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital proptosis, and midfacial hypoplasia and is related to the acrocephalosyndactylies (@DISEASE$) with @PHENOTYPICFEATURE$.	false
+472e3348b65a193d4e7eda6c7c48ee88f4b53b1a	Crouzon syndrome (CS) is characterized by premature @DISEASE$, orbital proptosis, and midfacial hypoplasia and is related to the acrocephalosyndactylies (ACS) with @PHENOTYPICFEATURE$.	false
+aef3df3772468bb1b8bd22d5d5e52d80579377f2	@DISEASE$ (CS) is characterized by premature craniosynostosis, orbital proptosis, and midfacial hypoplasia and is related to the acrocephalosyndactylies (ACS) with @PHENOTYPICFEATURE$.	false
+afe1aa5b005b1365cc634382f314dc3182dbfcc3	Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital @DISEASE$, and midfacial hypoplasia and is related to the acrocephalosyndactylies (ACS) with @PHENOTYPICFEATURE$.	false
+9eccef93df00fcef5c7e2deb43d4bcbaa597edc4	In @DISEASE$, @PHENOTYPICFEATURE$ is primarily caused by retrusion of the lateral and inferior orbital margins with a very short orbital floor.	has_symptom
+446434ae0f804166986ee77640d36ef2b58aa633	@DISEASE$ is a craniofaciostenosis characterized by brachycephaly, @PHENOTYPICFEATURE$, and maxillary retrusion.	has_symptom
+f6b4a2c739ec7ea6a0f24fb91325094d6745be7d	@DISEASE$, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor?2 (FGFR?2) gene, and characterized by craniosynostosis, shallow orbits, @PHENOTYPICFEATURE$, midface hypoplasia and a curved, beak?like nose.	has_symptom
+83bbdea65346f5f9f50995fa12477e3071595753	Craniosynostosis, maxillary hypoplasia, shallow orbits, @PHENOTYPICFEATURE$ and hypertelorism are the characteristic features of @DISEASE$.	has_symptom
+893399c34487df2c6e4d0abb78a3dc1bb4029847	Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and @PHENOTYPICFEATURE$ are the characteristic features of @DISEASE$.	false
+ef59cfc9ef4ee409bb89ee2c39f756525ba3adf8	Craniosynostosis, maxillary hypoplasia, shallow orbits, @DISEASE$ and @PHENOTYPICFEATURE$ are the characteristic features of Crouzon syndrome.	false
+ffcd84bc2284132bef612c98b53556a22ecf51c3	@DISEASE$, an autosomal dominant condition characterized by craniosynostosis, @PHENOTYPICFEATURE$ and midface hypoplasia, is associated with mutations in fibroblast growth factor receptor 2 (FGFR2) (refs 1-3).	has_symptom
+07a3ad6806395f3ccdfaace70f94e6098c8acc13	@DISEASE$ is an autosomal dominant disorder characterized by cranial synostosis, hypertelorism, orbital @PHENOTYPICFEATURE$, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism, without extremity involvement.	has_symptom
+b109938fa8391e7409332c3d74608de1ce0c67e9	Crouzon syndrome is an autosomal dominant disorder characterized by cranial synostosis, @PHENOTYPICFEATURE$, orbital @DISEASE$, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism, without extremity involvement.	false
+d2c27ee6b1b5e978aad6db7f7135e51ac11a02a1	@DISEASE$ is an autosomal dominant disorder characterized by cranial synostosis, @PHENOTYPICFEATURE$, orbital proptosis, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism, without extremity involvement.	false
+0e9f3f78bdf1e3da559ee693f4a5f205f1df2c43	Crouzon syndrome is an autosomal dominant disorder characterized by cranial synostosis, @PHENOTYPICFEATURE$, orbital proptosis, parrot-beaked nose, short @DISEASE$ lip, hypoplastic maxilla, and a relative mandibular prognathism, without extremity involvement.	false
+9e205720c9ac1f07483aa81ee779891786a39451	@DISEASE$ is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, hypertelorism, orbital @PHENOTYPICFEATURE$, psittichorina, hypoplastic maxilla, and mandibular prognathism.	has_symptom
+32c177de6b563cbdf5ab784695f147beb92e8b10	Crouzon syndrome is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature @DISEASE$, @PHENOTYPICFEATURE$, orbital proptosis, psittichorina, hypoplastic maxilla, and mandibular prognathism.	false
+3033d073ccfc5168e070cf000b4beb2f96568165	@DISEASE$ is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, @PHENOTYPICFEATURE$, orbital proptosis, psittichorina, hypoplastic maxilla, and mandibular prognathism.	false
+4e4f12d3d8c0851527c5fdfc16bd203adbee0f1e	Crouzon syndrome is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, @PHENOTYPICFEATURE$, orbital @DISEASE$, psittichorina, hypoplastic maxilla, and mandibular prognathism.	false
+bbcdbcb46d993426dad510e2b7b888b3924d87dd	Crouzon syndrome is a rare, @DISEASE$ from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, @PHENOTYPICFEATURE$, orbital proptosis, psittichorina, hypoplastic maxilla, and mandibular prognathism.	false
+c11b8f64e07c1eadd151acf42cd6bafa8e08ef6a	Premature fusion of the cranial sutures along with midface hypoplasia, shallow orbits, and @PHENOTYPICFEATURE$ are the principal features of @DISEASE$.	has_symptom
+ad7e51dcb7cfcfb4a6c53862012e816ceb86df84	Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, @PHENOTYPICFEATURE$, and sometimes by dystopia canthorum, and @DISEASE$.	has_symptom
+6af9e2f96eda6d316027cf5f0a9f4c7657eaac29	@DISEASE$, malrotation, isochromia, a profound @PHENOTYPICFEATURE$, and several other anomalies were found in an infant with an interstitial deletion of 13q, suggesting the existence of a contiguous gene syndrome involving developmental genes necessary for the normal growth of the neural crest derivatives of the eye, inner ear, and colon.	has_symptom
+d3989bb4cf23b923866729c837ac90012449ea4e	A significantly increased risk for dominant @PHENOTYPICFEATURE$ in patients who have @DISEASE$ (HSCR) caused by endothelin receptor type B and SOX10 has been reported.	has_symptom
+875275fe956ec6bcbb519dacf666db7054e1a008	The index patient, who was born to a family with no history of @DISEASE$, presented total colonic aganglionosis with small bowel extension, @PHENOTYPICFEATURE$ and generalized cutaneous pigmentary defects.	has_symptom
+d7c5c9faf9c9ad8d4f43b805c18c3ddc7fee72bc	Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmo?d (@DISEASE$), and abnormal melanocyte migration, resulting in pigmentary abnormalities and @PHENOTYPICFEATURE$ (Waardenburg syndrome).	has_symptom
+e81e11d4e55ec78b306c81f84c106b63fd743437	Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, @PHENOTYPICFEATURE$, and @DISEASE$ (HSCR).	has_symptom
+2bb7037d48c7f5c02c197a12cbc9474f96af0a81	Waardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (@PHENOTYPICFEATURE$ and pigmentation defects) and @DISEASE$ (intestinal aganglionosis).	has_symptom
+a6372a9e44dc76f1015a617583096b31000c56e8	The patient has the clinical features of WS4, including @PHENOTYPICFEATURE$, bright blue irides, premature graying of the hair and @DISEASE$.	has_symptom
+9bf6d198acbf2e65b788be8052d84c4521f07c00	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c189d5e62536452e71f0a9a7e098c0918da58d4c	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital @DISEASE$ with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+93819563c146c8896ef453c3ef0682070d5abdd4	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare @DISEASE$ disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+04c18d377e41d3858a8c461b42153d968c169a9e	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by @DISEASE$ abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+cdc1d0b89873a0dfee3da1f7f0877d1fa10ba08e	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and @DISEASE$.	false
+8980ce8cd2fd5d1aefeab851c4f2619914366fa3	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @DISEASE$ and Hirschsprung disease.	false
+a707038fafeba4be7c09326262ea7f1efb3590c9	@DISEASE$, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+19503f799a0202ff65dc2b388b489ac20c134785	Impairments of endothelin receptor B (EDNRB) and SOX10 have been shown to cause a significantly increased risk of dominant @PHENOTYPICFEATURE$ in @DISEASE$ (HSCR) patients.	has_symptom
+8e70f0caa2bdf9231416c5dbd2db0bc3cf61e1f2	Bardet-Biedl Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+32b9b2d38cc0103d1fbd879d934a4d87feb7559c	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+94e7daf7c799af2769a415c4408308b7a5519297	Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$, @DISEASE$, and hypogenitalism.	false
+cee3e09d01454c5730670164d131cc7f046cfe46	Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, polydactyly, @DISEASE$, and hypogenitalism.	false
+cbee2db1ac7faaf11d7268d13488d15a95409dfe	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism.	false
+c8737cd2626690e8956ceaaf4000a4fefc7d185e	Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, polydactyly, @DISEASE$, and hypogenitalism.	false
+c92249e4e5b9e456c59154e564b3ad312a7f204b	Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including @PHENOTYPICFEATURE$, obesity, @DISEASE$, polydactyly, short stature, and hypogenitalism.	false
+c7bb31d6a78ee5c2cc3299f741ffebb857e03880	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism.	false
+da6daa9f12194f9a4ad719c693e6baa7af6ffae5	Bardet-Biedl Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by developmental abnormalities including @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism.	false
+5e7a6ad84c5a19d290226416e8dd9a35565ae1c1	Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, @DISEASE$, @PHENOTYPICFEATURE$, short stature, and hypogenitalism.	false
+4ecf17c893cd3bdd2feee14fa45e83f6a1af7875	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$, short stature, and hypogenitalism.	false
+51bc1a3846e6f515730ef1e89a59a50bc163bf01	Bardet-Biedl Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism.	false
+979fe7ad6749d282bd1ed258b4f8ca16e34e9441	Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, short stature, and hypogenitalism.	false
+e5ee18285b28ebbf4f1c82af794b30753d04766d	Bardet-Biedl Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$, short stature, and hypogenitalism.	false
+a74e73c9b45715e3b310f7574d0beabe3b3cb0bf	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	has_symptom
+0b02612c24ec2ee4e7340cd57db2ca1490086ce2	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	has_symptom
+4505ef71baea3b7d820b67b604fe5c860f6a16e1	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, @DISEASE$, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+e1dd51e8b48288a38378c300db1307e55f1439b6	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+3e006ee42c56355d694a6af8965200d5c02688a7	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+98e70d8f611059efbdab23056d3c60a918e61592	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+40e3df36607e377c71b2c974cb34b6c584256b32	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+d0ea994cb29255ca8ef1d42c94a3373f9e3a3f3d	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+700d8917605abac349f821de8adcced9e05737ba	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, @DISEASE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+94f2cd6a5f6cf30d2c965eaa3f49668f82baf128	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+a00aa3f3cc13d2c1178d7dace1fc5976326614fa	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, @DISEASE$, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+a0aed2dfde31d58c40ffd84b7de73baaa4b38ab4	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, @DISEASE$, @PHENOTYPICFEATURE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+fa7660b4e4bdc016f5a583510d2e3be463c85dd3	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+b897fdb7061fa0b5e3d9d62e54df724ed5732dd1	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or @PHENOTYPICFEATURE$, @DISEASE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+8120b184a3020fb12c3dc439212cb6294ede6410	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+fffbc5d3d0f4f70a5170af54e0eb1ed982b69a3e	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, @DISEASE$, syndactyly and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+20d6beef646ed5119fbdedf470ae3e4174ea6161	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, @DISEASE$, syndactyly and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+6ef2a4a9b2eaea36d5b3b9782d845ef56a74c6e8	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, syndactyly and/or polydactyly, @DISEASE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+1ce2f01bd365db14217d666f4ed21a33f92c04de	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+8c95a11bb40d0e5e2c88af96566eaa148fc39fa2	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+724c57cc18af6a6aee443dc5e63c057f75338454	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$ and/or polydactyly, @DISEASE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+916510706ba9440d91c703dc2b502f4391a78110	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+4e398d43e57602cc60b76bf4dcc5166eee555b5c	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @PHENOTYPICFEATURE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	has_symptom
+655b7aba26ae6d78e5e8155b427d89af71049c41	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @DISEASE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+ac805598e979c20319222950f563874eb1cd108f	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @PHENOTYPICFEATURE$, and mental retardation, to which our observations belong.	false
+206198e2030f19af4ba58f7b1bb50d18959740b8	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+3287515368374c78bcaf187002bbafca603f4f9f	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+518ada0f90313cff6ee02959ac3837ba33506e5e	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+e5bff2f09784b5f3939325b47e91527886965a45	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @DISEASE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @PHENOTYPICFEATURE$, and mental retardation, to which our observations belong.	false
+163e2597e4767b1273cd975a88c8fec694e4c59f	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+95e34eafff22b71c7da68e0bde72474424aefef3	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @PHENOTYPICFEATURE$, and mental retardation, to which our observations belong.	false
+d3adba69532b2a6f2dade1c6fc06069d7323472d	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+5c9ae73d47a4f023eb545b007fb23859586cfe7b	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @DISEASE$, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+27575cecd8ad59818ee3ee0b74da3a2a543d55f8	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+0a5e7cda4c14dd2e866a67771b98fa6e62f1d15d	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+ca1b07d3e9b77adfab96c3dfa0cb6d045359b752	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+725bc3d1ea9b6014b64e6339f454231ed9d6a3db	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+1c2a0daed608ad0dbc73afb1c03746c3e3112e14	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @DISEASE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+3f67f1ce9f8edcc860ed252bf8af22c0106c7e42	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @PHENOTYPICFEATURE$, and mental retardation, to which our observations belong.	false
+09d61b23462b6c845d97d9aeddeb7fef678c8c3c	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+d5952ac1f0e473579dd689a28f420eeffdd08156	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+a722773d3c4f480dc57accc2de99ba36ffd6365d	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+5e8ec8b7954995303808e29f70da7b1150d1954a	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @DISEASE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+7a064c08ff6bf73d3f7c149b56ccde25dede508b	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, @PHENOTYPICFEATURE$, cognitive impairment, and developmental delays.	has_symptom
+6c5b7447ee91e49880df8e46b6ed21a8987c53d1	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, @PHENOTYPICFEATURE$, cognitive impairment, and developmental delays.	has_symptom
+af6771e20047c3ba18cefaa3f446bec16a13c306	Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including @PHENOTYPICFEATURE$, retinopathy, hyperphagia, obesity, @DISEASE$, cognitive impairment, and developmental delays.	false
+2f45c362617b8201c99e0dae7782bbc2a4fc4fe2	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, @PHENOTYPICFEATURE$, short stature, cognitive impairment, and developmental delays.	false
+17fbff7796eb9c6cc8cba9b3e243e9ccfe1f8b49	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, @PHENOTYPICFEATURE$, short stature, cognitive impairment, and developmental delays.	false
+1601b1433d801475aa4a8f470aab4a4ae3c0881e	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including @PHENOTYPICFEATURE$, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays.	false
+d30b128171258b0b3eb8bb92b4ea75848acf82ab	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, @PHENOTYPICFEATURE$, and developmental delays.	false
+1622b39bf858fea722260fdcd18483e89b44de45	Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, @PHENOTYPICFEATURE$, @DISEASE$, cognitive impairment, and developmental delays.	false
+ceab810f544d1049f9872d55cb153443b428ec43	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including @PHENOTYPICFEATURE$, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays.	false
+41b384dd798ffd6b36040ec283f1e0bd0b5c2c21	Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, @DISEASE$, @PHENOTYPICFEATURE$, and developmental delays.	false
+ac108c1d847b7a05dd40d8507f11514c9e165d59	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, @PHENOTYPICFEATURE$, and developmental delays.	false
+c4b5740cd7dc7908f2926b531c71b03dbf5b4bdd	The autosomal recessive disorder @DISEASE$ is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+90c95a52a2654a6d698cbfe7f9e12fdb3b737f85	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, @PHENOTYPICFEATURE$, mental retardation, hypogenitalism, @DISEASE$, and short stature.	false
+210fec4a8250e1010542017f5053872fb059f96f	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, @PHENOTYPICFEATURE$, obesity, mental retardation, hypogenitalism, renal dysplasia, and @DISEASE$.	false
+3022758d238d87e1a9df00b13c38fbebf4ae34c6	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, @PHENOTYPICFEATURE$, hypogenitalism, renal dysplasia, and @DISEASE$.	false
+a26ea4e832c45dbb5e96ccb2ea5b933ef5cdbf32	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, and short stature.	false
+169414b7cd68141b7faf966ba55d9fd7df02dec7	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by @PHENOTYPICFEATURE$, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and @DISEASE$.	false
+19d055016bf930c3b095101b516cb887f9b2d97e	The autosomal recessive disorder @DISEASE$ is characterised by @PHENOTYPICFEATURE$, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature.	false
+6825270c7460de668ba7e01056465632493492db	The autosomal recessive disorder @DISEASE$ is characterised by retinal degeneration, @PHENOTYPICFEATURE$, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature.	false
+64927418f945bbe0654158449b629be461dd1a47	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, @PHENOTYPICFEATURE$, mental retardation, hypogenitalism, renal dysplasia, and @DISEASE$.	false
+8fde07b91192d516aa8b7d7da1177eaa71f8f88a	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by @PHENOTYPICFEATURE$, polydactyly, obesity, mental retardation, hypogenitalism, @DISEASE$, and short stature.	false
+3cb82a1ab8c22a2d7e442980d12582b52ec8090d	The autosomal recessive disorder @DISEASE$ is characterised by retinal degeneration, polydactyly, @PHENOTYPICFEATURE$, mental retardation, hypogenitalism, renal dysplasia, and short stature.	false
+2c6a04e925b2b6c9dcd1fe7ae23f1f7826719a98	The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, @PHENOTYPICFEATURE$, obesity, mental retardation, hypogenitalism, @DISEASE$, and short stature.	false
+8c1417373a1c8c6bc53770c83733d7b58c048a90	The autosomal recessive disorder @DISEASE$ is characterised by retinal degeneration, polydactyly, obesity, @PHENOTYPICFEATURE$, hypogenitalism, renal dysplasia, and short stature.	false
+121fabc825362632d2525ef0dc7fd8917f75f7ae	We report humans with @DISEASE$ who display intellectual disability, retinitis pigmentosa, obesity, @PHENOTYPICFEATURE$ and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	has_symptom
+385ab86a9a49643c77d69a09a8621cf3a348df52	We report humans with Bardet-Biedl syndrome who display intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+109015dd5194095716644e9929cd73e7f1998ab8	We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, @PHENOTYPICFEATURE$, @DISEASE$ and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+a5917ff84970483c5f539107a92f541aa3d3d15c	We report humans with Bardet-Biedl syndrome who display intellectual disability, @DISEASE$, obesity, short stature and @PHENOTYPICFEATURE$, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+ecb6c80d761df13b82fe342980ddce35a6b934ac	We report humans with @DISEASE$ who display intellectual disability, retinitis pigmentosa, obesity, short stature and @PHENOTYPICFEATURE$, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+d61dccdbc004955fa43b89271d69f1a50e47328d	We report humans with @DISEASE$ who display intellectual disability, retinitis pigmentosa, @PHENOTYPICFEATURE$, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+5dfbf38fe140f2adb1e7cc5740d986b22710dc60	We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, @DISEASE$ and @PHENOTYPICFEATURE$, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+a55c7addbe1bca6488d586fe3abd93c36b0e5cba	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+db5465b15ebfe62e6889c8763c96a413ca298432	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+8b9590bdb053e7ecc406dcc2ade425223e633bac	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+5b27232a2273fe4f2749796d0d1b908f8fda13ee	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+45ef332b915d8b91836c3168f630ec2af6da36fd	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+580524f0d7b66b2e0efb7265eff2a7113de4b31b	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+7630c30075ac3ad6778d2d7f120850de8731a4ed	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+d81cb30364025859001ae2fb78a03d0d4ad71cca	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+c94ec8903b22623ae57da4bae06e7aeeba65e59e	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @DISEASE$.	false
+c4cd6dc5c422ffc81de0566f2e3a1c4c53b9a17a	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+941124bdf5d45a1812c3fbf6f4b8d19bf464f657	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+c4a61c8fe6edafe657f08251364fa3c66dd65256	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+8dbbf423670781a2b3ca52947177bf0526da68af	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+e80087f74d88c98fd6d37f3149bb0954638c4294	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+4bb9a3faf050550d3a5358cd0d11a25454872351	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @DISEASE$.	false
+0006a6213d9420029fcfccda462e24def9611368	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @DISEASE$.	false
+b63e01d189852a902598ed6dc9140f862a3d539d	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+d5bc91114db31f00dd122d168fb9a8a04d6a1ab8	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+37c53b53b4a35908cb55a860114ceb5f6187fe8a	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+11aa55d24d2ab98b35b7ceee53368c786472b477	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+8d1a8b027046eb95f8e55bd66cdf1336f36e304e	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+96b0a7dd288e2c8718f18fe5d4881f8a58eee798	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+346fe42395330660fbc192053ede9f51a8a1620d	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+479372ca95857a51f77a20215e1da50d431b48b6	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @DISEASE$.	false
+7f5f032cb6366e2e7779a1024ceae01008beb340	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, diabetes mellitus, hypogenitalism, renal dysplasia and @DISEASE$.	false
+a6641b80e8b6cb686181b2946b5bd4727ecb8ddb	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+3f2dfcf9781d1f76963e1c3b622dc9b12bffacd7	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+ef9398610bbd73bbeefe86ae9d19ee93cd0db692	In addition, the 17-year-old female patient showed @PHENOTYPICFEATURE$, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting @DISEASE$, though polydactyly was absent.	has_symptom
+65113dded779d61086832ecdec83610f7e17e901	In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed @DISEASE$, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though @PHENOTYPICFEATURE$ was absent.	false
+a9b0d2992042f7b652e98b263935ffe871fc22d1	In addition, the 17-year-old female patient showed @DISEASE$, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though @PHENOTYPICFEATURE$ was absent.	false
+58134a1a35c8d0c30cc951f8761eed3571277a2c	In addition, the 17-year-old female patient showed short stature, @PHENOTYPICFEATURE$ in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting @DISEASE$, though polydactyly was absent.	false
+0cc2103adf31cf5e5feac2cfc06872f25af16471	In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting @DISEASE$, though @PHENOTYPICFEATURE$ was absent.	false
+5b6bc74068696597d31d5689d96b211e271607e6	In addition, the 17-year-old female patient showed short stature, @PHENOTYPICFEATURE$ in infancy, and small hands with tapering fingers suggesting @DISEASE$, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent.	false
+18c5adad66db95a0819ef89b9304649e6d440125	In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting @DISEASE$, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though @PHENOTYPICFEATURE$ was absent.	false
+90415ce1cf65c1e7c288743af51db0cc2790a633	In addition, the 17-year-old female patient showed @DISEASE$, @PHENOTYPICFEATURE$ in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent.	false
+a0509df425057e91fdeb03ec35ef44cefa83c459	In addition, the 17-year-old female patient showed short stature, @PHENOTYPICFEATURE$ in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed @DISEASE$, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent.	false
+01b6477a920492abf9dfe2e7e989fd76cc23e53e	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	has_symptom
+9e42d3690a37788e74addd70ae4ed60f56db1e44	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+da2fddd77d09b6f12792742e6c2c40c4b3a94a4d	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, @PHENOTYPICFEATURE$, and dental anomalies.	false
+3b10b6af1f1dac2d72fd08b6edddd3f16e7b8657	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+778ca895bbad6bcb451eff3ade1670d3d3a4fefb	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, proportionate short stature, and dental anomalies.	false
+ad4df9f8a05b1c5c33cd9fb0b4c2a5ea29604e99	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+70609964dce41c10618436f8134efb46a2bc8b6f	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, @DISEASE$, proportionate short stature, and dental anomalies.	false
+9ddb112640f409ef5d69b300f4571784d439941e	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+1614a56ee7047f41779f8dd032114f1b2141636b	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+20b32ba5047c1c7213a12c044e291d2da66b9184	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @DISEASE$.	false
+71ac32b553d961c1facbac602b4c0ecb1cd099c8	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+3fdc80bb89074e2b56e7160476377e154978859a	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+8cede9e047048a035622ab5bfc045b7b675aef80	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and @DISEASE$.	false
+e0d1635a97292d8fa06869f48e1854e677e4ba82	@DISEASE$ is a rare congenital disorder characterized by bird-like facies and @PHENOTYPICFEATURE$.	has_symptom
+d09b9f00eecf86aa06e4bb5331dc30d2a70636e5	@DISEASE$ is a rare congenital disorder characterized by dyscephaly, @PHENOTYPICFEATURE$, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral microphthalmia.	has_symptom
+f0b49db5b927a9262ca803422e13164e7ec0af4e	Hallermann Streiff syndrome is a rare congenital disorder characterized by dyscephaly, @DISEASE$, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral @PHENOTYPICFEATURE$.	false
+ba3070f6d65f59c3e0156b48ecc421d8ebc5bd47	Hallermann Streiff syndrome is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+c578fc8cc5cb0e57271aa358b4366b03001f10f7	@DISEASE$ is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral @PHENOTYPICFEATURE$.	false
+88d2ce3682a93eb92ed8613b31325190b4c7e4f0	@DISEASE$ (HSS) is a rare disorder characterized primarily by head and face abnormalities, with @PHENOTYPICFEATURE$ also present in 50-80 percent of cases.	has_symptom
+0188f01cc2a96729c35aa730ebdd7e1586bb4329	@DISEASE$ (HSS) is a rare disorder characterized primarily by head and @PHENOTYPICFEATURE$, with dental abnormalities also present in 50-80 percent of cases.	false
+34f6606b1dc203ce5f840278d29e502a4101e8b3	Hallermann-Streiff Syndrome (HSS) is a rare disorder characterized primarily by head and @PHENOTYPICFEATURE$, with @DISEASE$ also present in 50-80 percent of cases.	false
+94b6031a97d1827798f123fffc2a06a60acd53bc	@DISEASE$ (HSS) is a rare disorder characterized by dyscephalia, with facial and @PHENOTYPICFEATURE$.	has_symptom
+ee946bc1e32aa415f443cc903301c43211ead7f0	In this review, we describe the metabolic fate of glucose-6 phosphate in a healthy liver and the metabolic reprogramming occurring in two pathologies characterized by a deregulation of glucose homeostasis, namely type 2 diabetes, which is characterized by fasting hyperglycemia; and @DISEASE$, where patients develop severe @PHENOTYPICFEATURE$ during short fasting periods.	has_symptom
+e1a63a2f6b3883f79312bfdbda14f99f5f5b82c5	Patient-controlled sedation (PCS) using propofol under spinal anesthesia in transurethral lithotripsy was carried out in a 44 year old patient with @DISEASE$ accompanied with liver dysfunction, chronic renal failure, @PHENOTYPICFEATURE$ and metabolic acidosis.	has_symptom
+1f0c2c304a89af817fe1bda463d74aefde10df85	A case of @DISEASE$ associated with an incomplete type of Fanconi syndrome; the protective role of lysosomal alpha 1,4-glucosidase and insulin deficiency against @PHENOTYPICFEATURE$.	has_symptom
+09e54fd2628453b09e4b4ccc5d0ffa431a8798ff	METHODS: Through Medline, the most significant articles published during the last 20 years were selected from national and international journals of medicine, with special attention to dietary treatment of glycogen storage disease type I. RESULTS: The metabolism of glycogen and the metabolic consequences of @DISEASE$ were discussed, especially @PHENOTYPICFEATURE$, the principal metabolic disturbance of the disease.	has_symptom
+2a862e3f664895a9cac0f7234a800051d29d4eb9	@DISEASE$, asystole, and @PHENOTYPICFEATURE$.	has_symptom
+0910ceaa2f706c120787bd7ff98aa94b2903f8cb	@DISEASE$, asystole, and @PHENOTYPICFEATURE$ occurred in a patient with an internal carotid occlusion and external carotid stenosis.	has_symptom
+05540f08c17d65c4dd665aab529d41dadc76a61f	@DISEASE$ associated with syncope and @PHENOTYPICFEATURE$.	has_symptom
+313a77c2595ac2721d44e9cc0e5ee63c724fa77e	Microvascular decompression resulted in complete relief of @DISEASE$, cardiac syncope, and @PHENOTYPICFEATURE$.	has_symptom
+1c5266dea753db423c510b60259e6a876be152d0	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$, syncope, bradycardia, and hypotension is presented.	has_symptom
+d91806af1750507d1fa82e99ee3d25b2bbd3aad5	Syncope and @PHENOTYPICFEATURE$ have not been previously reported in association with trigeminal neuralgia, although they are well described with @DISEASE$.	has_symptom
+1e8b55948c38fbd5479cbbe5fd280818b6289628	@DISEASE$ with asystole and @PHENOTYPICFEATURE$.	has_symptom
+d73149be18c4bc4468de4587158de2ab5cd4d823	@DISEASE$, @PHENOTYPICFEATURE$ and aging.	has_symptom
+82383530b175c788227eafbb1120bef86c7ca00d	Conjugal @PHENOTYPICFEATURE$ and @DISEASE$: a case series with environmental risk factor analysis.	has_symptom
+3e3a34f99039b08f3c57ae90a9a9aaa70cc0bb1d	diagnosed with @DISEASE$ (76%), atypical @PHENOTYPICFEATURE$ (10%), and others (14%); 116 responses were sent.	has_symptom
+6d3e7b95790a1024cdcdce98f838eedc455d931b	We performed TCS on 315 individuals which were diagnosed as healthy controls or affected by idiopathic @DISEASE$, monogenetic subtypes of Parkinson's disease, atypical @PHENOTYPICFEATURE$, and Dementia with Lewy bodies.	has_symptom
+2b3a113631b64ea0e0cc663295b2b5d8539f7b33	Early or young onset @PHENOTYPICFEATURE$, early or young onset @DISEASE$, juvenile parkinsonism, all these terms have been used indistinguishable.	has_symptom
+f4a708ceca515a42bb8c101a57b53a6013e21c15	Pain is one of the most common nonmotor symptoms of @DISEASE$ (PD) and other @PHENOTYPICFEATURE$ plus syndromes, with a major effect on quality of life.	has_symptom
+257cabc47a8dd1ea086edb5f6895e6fb60e81406	Genetic alterations in alpha-synuclein cause autosomal dominant familial @PHENOTYPICFEATURE$ and may contribute to sporadic @DISEASE$ (PD).	has_symptom
+3f595f76bb3f833ec3d11ec6f4f7da71b8bc6608	To investigate the difference in the regional cerebral glucose metabolism between multiple system atrophy @PHENOTYPICFEATURE$ type (MSA-P) and @DISEASE$ (PD).	has_symptom
+76aa0fe27576e98b935ddcdefb633fa10a92d47f	@PHENOTYPICFEATURE$ and @DISEASE$ associated with long-term administration of sertraline.	has_symptom
+8c9c5b737bc9af1f33a6c2a3c980a17115f5ad5d	Mutations in PARK8 (LRRK2) are associated with autosomal dominant @PHENOTYPICFEATURE$ and @DISEASE$ (PD).	has_symptom
+1390da853c90b291bd39c5c33b0038786464817c	@DISEASE$ in a child with @PHENOTYPICFEATURE$.	has_symptom
+7b01cdb0eb0cb032ccb537ff3b7892d54ba1656e	Re: "@DISEASE$ in a child with @PHENOTYPICFEATURE$" [Akl, 1994].	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+15a5df54cf9b42be85d1d8ae17b8d40ccf8cebba	The frequency of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c17af65bbb5e67dd251d74bfe89ac9dd1ac26d79	The patient has clinical features different from both achondroplasia and @DISEASE$ and is @PHENOTYPICFEATURE$.	has_symptom
+64f0daf82ebd67f0d434841916064efef554a15f	We also identified 4 new PLP1 point mutations that cause both @DISEASE$ and @PHENOTYPICFEATURE$, three of which truncate PLP1 expression within the PLP1-specific domain, but do not alter DM20.	has_symptom
+e9860894e9fbbd1569cf90e71836556c91df593e	NCS were normal in all patients with @DISEASE$ and indicated mild @PHENOTYPICFEATURE$ in only 2 of 10 patients with PMLD.	has_symptom
+5295f368c9d1281c2d652f468da07f3676c23541	We describe an unique patient presenting with severe leukodystrophy compatible with @DISEASE$ and @PHENOTYPICFEATURE$ consistent with Charcot-Marie-Tooth disease type 1 in addition to Waardenburg-Hirschsprung syndrome.	has_symptom
+96b44b831ffde416cde9ddc79b7980df2e091bbc	Mutations of PLP1/DM20 cause Pelizaeus-Merzbacher Disease (@DISEASE$), a leukodystrophy, and in some instances, a @PHENOTYPICFEATURE$.	has_symptom
+7f1fe398e810d6c0213c5be9a30f3dc2003a5011	Mutations of PLP1/DM20 cause @DISEASE$ (PMD), a leukodystrophy, and in some instances, a @PHENOTYPICFEATURE$.	has_symptom
+9f9f9c1f89cd15ae7de3fe6a36375162e8303b59	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy and @PHENOTYPICFEATURE$ in adulthood.	has_symptom
+b6930cf9ca003331255e0c244c0fe31deb6bb2da	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of @DISEASE$ with @PHENOTYPICFEATURE$, dysarthria, optic atrophy and peripheral neuropathy in adulthood.	false
+b6bfe9b9e39de73548c0d78a918485baca93b574	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of @DISEASE$ with mental retardation, dysarthria, @PHENOTYPICFEATURE$ and peripheral neuropathy in adulthood.	false
+f2355815261c5f2053befe5ab9c252976679284d	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @PHENOTYPICFEATURE$, dysarthria, optic atrophy and @DISEASE$ in adulthood.	false
+c59a8f921f505bac72dd65a916718af646b654d6	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, @PHENOTYPICFEATURE$ and @DISEASE$ in adulthood.	false
+c69ea3c25a83239356d86ce23c88a7ea19da39ee	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, @PHENOTYPICFEATURE$ and peripheral neuropathy in adulthood.	false
+1f731e234166a26c11210e0bf53da43983b4fb08	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @PHENOTYPICFEATURE$, dysarthria, optic atrophy and peripheral neuropathy in adulthood.	false
+7ebe87a683ac6bdae7b22ffab160a1d0e3cc5b8a	A typical case of @DISEASE$ with hypopigmentation, mental and psychomotor retardation, @PHENOTYPICFEATURE$, bilateral optic atrophy and dental defects in a three-year-old boy is presented.	has_symptom
+ef8b14fb0349e00dd9781fe3d6dd94522de31e73	A typical case of @DISEASE$ with @PHENOTYPICFEATURE$, mental and psychomotor retardation, spasticity, bilateral optic atrophy and dental defects in a three-year-old boy is presented.	false
+0ef2b5eb05c9fb4ebbe0ca46c75a2bd7c945378b	A typical case of Cross syndrome with hypopigmentation, mental and psychomotor retardation, @DISEASE$, bilateral @PHENOTYPICFEATURE$ and dental defects in a three-year-old boy is presented.	false
+7b5cdfbb012ebf44bcfe3e257d523ed028ca700c	A typical case of Cross syndrome with @PHENOTYPICFEATURE$, mental and psychomotor retardation, @DISEASE$, bilateral optic atrophy and dental defects in a three-year-old boy is presented.	false
+d8f0537e4e346f9374e27bd4a9bc9b9ad57d9b6d	A typical case of @DISEASE$ with hypopigmentation, mental and psychomotor retardation, spasticity, bilateral @PHENOTYPICFEATURE$ and dental defects in a three-year-old boy is presented.	false
+19830d392e54fae969fc54aabc8f488e64358605	We describe a patient who presented with neonatal liver and pancreatic insufficiency, tyrosinemia and hyperammonemia and later developed @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e96eec61935aca99271d721833946dc1f5df5ee4	IARS2 mutations are reported to cause @DISEASE$ or cataracts, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and skeletal dysphasia syndrome (CAGSSS).	has_symptom
+f6f6217f145c15bf2135bda91e19eb08a7bdc638	IARS2 mutations are reported to cause Leigh syndrome or @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, @DISEASE$, and skeletal dysphasia syndrome (CAGSSS).	false
+c3c04dacda89892de72aaeedcea2967eab5372b6	IARS2 mutations are reported to cause @DISEASE$ or @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).	false
+b68002c564abf9a23892e0c2370b8e30adf07230	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, @DISEASE$, and skeletal dysphasia syndrome (CAGSSS).	false
+d01d7cf2d9c0acafafe9ebcd82c59bae3d06f78f	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal @DISEASE$ syndrome (CAGSSS).	false
+acbabc09ceda6386a6639f47c38cbb25393f6b53	IARS2 mutations are reported to cause @DISEASE$ or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).	false
+7a3ed8dd65310c01377de791e45048d938794509	IARS2 mutations are reported to cause Leigh syndrome or @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal @DISEASE$ syndrome (CAGSSS).	false
+47bd804fb219871f5dbec0c547b3ac26c484b0d8	IARS2 mutations are reported to cause Leigh syndrome or @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia @DISEASE$ (CAGSSS).	false
+3fbd560d92cfbc29b3504bf0b864ed3f3c0557e3	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal dysphasia @DISEASE$ (CAGSSS).	false
+fbd6abaa3b6e17889162e7de041f8759c246b5d5	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, @PHENOTYPICFEATURE$, encephalopathy and a brain magnetic resonance imaging with signs of @DISEASE$.	has_symptom
+90e2a67465b2b03031180ff9a8fde5ad7008c87f	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, @DISEASE$, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+4517a4f47015b99033aba1c76a3a02ff97553091	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial @DISEASE$ consistent with the MEGDEL syndrome including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+1dea98e64c2fc20e9415ad1f961e4d5f3bd2e731	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of @DISEASE$.	false
+3923728b3c1455625dff1a3308d98a1c9e3d4fbe	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the @DISEASE$ including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+b6d6c1b597f4c69848a31ff3dabfcc7a24d04aa9	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial @PHENOTYPICFEATURE$, and peripheral neuropathy or with @DISEASE$.	has_symptom
+dc1f7c87b98d049b07b2f5b73599aadbb36e99b2	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @PHENOTYPICFEATURE$, growth hormone deficiency with short stature, partial @DISEASE$, and peripheral neuropathy or with Leigh syndrome.	false
+604d5d402a19915ed1bca9be5e29ab92ccea6da1	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with @PHENOTYPICFEATURE$, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	false
+a6ae6e1414980f425171d251e3b35ba28eee8ad0	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and @PHENOTYPICFEATURE$ or with @DISEASE$.	false
+866f543d2718b385a130e71fc702de3953363eae	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @PHENOTYPICFEATURE$, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	false
+68af8f485500828f0d078c6fc49efb0078bf9b19	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial @DISEASE$, and @PHENOTYPICFEATURE$ or with Leigh syndrome.	false
+bc7b77353444b6f88e28bf4c9606c4c96ce3feb7	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with @PHENOTYPICFEATURE$, partial @DISEASE$, and peripheral neuropathy or with Leigh syndrome.	false
+c45c5595f8c7af6e28aa492b3fc8db966eeee3ed	This is a case in which a patient presented with left-arm @PHENOTYPICFEATURE$, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of @DISEASE$.	has_symptom
+b0e6e30ca7e4435ac39d34ce19380b4388a86410	We report a female infant with congenital @PHENOTYPICFEATURE$, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of @DISEASE$.	has_symptom
+2805453050d5b95f81686700b84b84cd5f3dfb12	We think that the present report and that of Njolstad et al. describe a new condition very similar to @DISEASE$, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, @PHENOTYPICFEATURE$ of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	has_symptom
+4ab2c4492f21585ea18fb20592f3e93c9293db1e	We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, @DISEASE$ of the lower limbs and facial anomalies (flat face, @PHENOTYPICFEATURE$, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	false
+4f7cf93e25d0b31abd23fe95ee8782d2f2a35df9	We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and @DISEASE$ anomalies (flat face, @PHENOTYPICFEATURE$, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	false
+653430a154442a891743d1b5e783a8da28fa06db	We think that the present report and that of Njolstad et al. describe a new condition very similar to @DISEASE$, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, @PHENOTYPICFEATURE$, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	false
+884b3b7eb9238db20afbd86477b423ff4bb71427	Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as @PHENOTYPICFEATURE$ such as @DISEASE$, horseshoe kidney, or renal ectopia.	has_symptom
+8cbf22cd7004ad4a31ba2acef2d80d7095d7259a	When @PHENOTYPICFEATURE$ or anomalies are observed in standard teratology bioassays, studies using techniques similar to those described here may be extremely useful in determining the biological significance as well as permanence or transience of effects such as @DISEASE$, dilated renal pelvis, and dilated ureter.	has_symptom
+a010791ceecc2b20a2738265983423309ec3d487	When @DISEASE$ or anomalies are observed in standard teratology bioassays, studies using techniques similar to those described here may be extremely useful in determining the biological significance as well as permanence or transience of effects such as renal hypoplasia, @PHENOTYPICFEATURE$ renal pelvis, and dilated ureter.	false
+3d5f221f488ad381976fc85f474aaeb6d6a97a2f	When renal malformations or anomalies are observed in standard teratology bioassays, studies using techniques similar to those described here may be extremely useful in determining the biological significance as well as permanence or transience of effects such as @DISEASE$, @PHENOTYPICFEATURE$ renal pelvis, and dilated ureter.	false
+3cc8768020b6dfbbc1ac2e1208a7ad67147b7055	Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited @DISEASE$, generalized dystonia, and a characteristic hobby horse @PHENOTYPICFEATURE$.	has_symptom
+e9a7605e064268a703bb8abe128daff766ad1caa	We found significantly lower total symptom score (@DISEASE$) during the 7th (p?=?.009), 14th (p?=?.003), 21st (p?<?.001) and the 28th day (p?=?.001), lower total endoscopic score (TES) on the 21st (p?=?.002) and 28th day (p?=?.001), lower nasal obstruction, facial @PHENOTYPICFEATURE$/pressure, headache and trouble sleeping, and lower nasal mucosal edema, nasal secretion and nasal crusting in patients treated by hypertonic sea water.	has_symptom
+9c0cf1d035d40f2cd83f6c3c5d74a200fa4f886e	We found significantly lower total symptom score (@DISEASE$) during the 7th (p?=?.009), 14th (p?=?.003), 21st (p?<?.001) and the 28th day (p?=?.001), lower total endoscopic score (TES) on the 21st (p?=?.002) and 28th day (p?=?.001), lower nasal obstruction, facial pain/pressure, headache and trouble sleeping, and lower nasal mucosal @PHENOTYPICFEATURE$, nasal secretion and nasal crusting in patients treated by hypertonic sea water.	false
+e4b631286ab4c0ca249303d047ae5fe6eabf9bff	We found significantly lower total symptom score (TSS) during the 7th (p?=?.009), 14th (p?=?.003), 21st (p?<?.001) and the 28th day (p?=?.001), lower total endoscopic score (TES) on the 21st (p?=?.002) and 28th day (p?=?.001), lower nasal obstruction, facial @DISEASE$/pressure, headache and trouble sleeping, and lower nasal mucosal @PHENOTYPICFEATURE$, nasal secretion and nasal crusting in patients treated by hypertonic sea water.	false
+146ef7210e0f467a8a10177b209b77bbd1065573	The primary endpoint was the change in mean total symptom scores (@DISEASE$) on day 7. Secondary endpoints included individual symptom scores (nasal congestion, mucus secretion, facial @PHENOTYPICFEATURE$, impairment of smell) and endoscopic findings on days 7 and 15 and others.	has_symptom
+688d67395f26f90f7d1894635e764eae0f33c3a1	The Authors report the case of a 56-year-old man with @DISEASE$, who after ingesting a food containing gluten and experiencing a flu-like syndrome, developed severe diarrhea, @PHENOTYPICFEATURE$, weight loss (15 kg), hypotension, renal dysfunction, hypokalemia and metabolic acidosis.	has_symptom
+8e2d598295b6128e0a9a6d186a4ab13f4b591339	@DISEASE$ usually presents in infancy or early childhood with diarrhoea, @PHENOTYPICFEATURE$ and interference with weight gain and growth.	has_symptom
+dd8b466d6870250ccb1a87983261280cc40273cb	The myopathies constitute a clinical continuum within which the following syndromes may be delineated: (1) @DISEASE$ (2) Luft's disease (3) a variant of Ramsay Hunt syndrome (4) relapsing febrile neurological deficits with headache and @PHENOTYPICFEATURE$.	has_symptom
+d0c1de2a808ae6d2894bd5cd71ec85f1517a6e26	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including @PHENOTYPICFEATURE$, dystonia, ophthalmoplegia, @DISEASE$, Leigh disease, and Friedreich's ataxia.	has_symptom
+43f92369c45faeaef7c9aafb8f6666d3f9cffe94	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including seizures, @DISEASE$, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's @PHENOTYPICFEATURE$.	false
+6c089fd1aef0b2d00145b199528c06a9c05a04e2	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both @DISEASE$ and neurologic disorders including seizures, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's @PHENOTYPICFEATURE$.	false
+2ce35f6b0cfdd6d26d20f9231c55fc6433c17394	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including seizures, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, @DISEASE$, and Friedreich's @PHENOTYPICFEATURE$.	false
+65ee1d364b9c152dce99777b0a7d92100317b3e5	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including seizures, dystonia, ophthalmoplegia, @DISEASE$, Leigh disease, and Friedreich's @PHENOTYPICFEATURE$.	false
+a9319a20542c4d203ac8a8c19424bcd723a3655a	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and neurologic disorders including @DISEASE$, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's @PHENOTYPICFEATURE$.	false
+7a196300b612ab78660b5d7a135b26ad625d8d7d	We sought to evaluate the relationship between clinical and mitochondrial phenotypes in 28 young patients with both cardiomyopathy and @DISEASE$ including seizures, dystonia, ophthalmoplegia, Kearns-Sayre syndrome, Leigh disease, and Friedreich's @PHENOTYPICFEATURE$.	false
+f59f2a342131dddb5b28c5844ec6ee24747ce0ed	A 25-year-old woman with @DISEASE$ (KSS) had complete external ophthalmoplegia, short stature, @PHENOTYPICFEATURE$, cardiac conduction defects, and pigmentary retinopathy.	has_symptom
+ed773d14acb131ce66368e697f5d6fea2a64fb3d	A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, @PHENOTYPICFEATURE$, @DISEASE$, cardiac conduction defects, and pigmentary retinopathy.	false
+fb93a86a0d8afa727d9c9a007a0ad98f6b983eec	A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, @PHENOTYPICFEATURE$, ataxia, cardiac conduction defects, and pigmentary @DISEASE$.	false
+656566361e0794b93eb87d082a455bca1947e9a8	A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, @PHENOTYPICFEATURE$, ataxia, cardiac conduction defects, and @DISEASE$ retinopathy.	false
+c38b5d5ca7565b051cae93100a4ea15b65e0ee8a	A 25-year-old woman with @DISEASE$ (KSS) had complete external ophthalmoplegia, @PHENOTYPICFEATURE$, ataxia, cardiac conduction defects, and pigmentary retinopathy.	false
+09089446f89ab6a2f9496895b8303f6235117382	@DISEASE$ (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular myopathy, pigmentary retinopathy, heart block and @PHENOTYPICFEATURE$.	has_symptom
+b4624ea680e746867eaa131b9d9ef3db729e7c05	Kearns Sayre syndrome (KSS) is a @DISEASE$ with a confounding variety of clinical manifestations, including ocular @PHENOTYPICFEATURE$, pigmentary retinopathy, heart block and ataxia.	false
+6426a184afd5be31f4f8d33b4fa53c751145b20b	@DISEASE$ (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular @PHENOTYPICFEATURE$, pigmentary retinopathy, heart block and ataxia.	false
+47086f5d623b34290c487d01b34ff1cfe280a903	Kearns Sayre syndrome (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular @PHENOTYPICFEATURE$, pigmentary retinopathy, heart block and @DISEASE$.	false
+e0e549bd4b65077480538acd340d3c0031db59d9	The clinical signs of @DISEASE$ include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and @PHENOTYPICFEATURE$, as well as other heterogeneous manifestations including neuromuscular problems and endocrine disorders.	has_symptom
+501c3ed0dd6437792ac656f6b207b06a88280640	@DISEASE$ (KSS) was first described in 1958 as 'a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy, atrioventricular block and @PHENOTYPICFEATURE$'.	has_symptom
+a3eb0bf8fbc32698af694f8cc7b24d0b9fbca3b4	We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, @PHENOTYPICFEATURE$, and cardiac conduction block (@DISEASE$).	has_symptom
+bd296a61209928e05fe369c54eb91261049411cf	At the age of 5 years he developed visual impairment, tremor, @PHENOTYPICFEATURE$, proximal muscle weakness, external ophthalmoplegia, and a pigmentary retinopathy (@DISEASE$).	has_symptom
+19571f340534cd44e38a0360d1df1a4fa500b8a4	At the age of 5 years he developed @PHENOTYPICFEATURE$, tremor, ataxia, proximal muscle weakness, external ophthalmoplegia, and a pigmentary @DISEASE$ (Kearns-Sayre syndrome).	false
+016108ea6431c22ce3514d1a09d391a0e6e911e2	At the age of 5 years he developed @PHENOTYPICFEATURE$, tremor, ataxia, proximal muscle weakness, external ophthalmoplegia, and a pigmentary retinopathy (@DISEASE$).	false
+73e44c65d49357612fd1206fce01e5cbf534d972	At the age of 5 years he developed @PHENOTYPICFEATURE$, tremor, @DISEASE$, proximal muscle weakness, external ophthalmoplegia, and a pigmentary retinopathy (Kearns-Sayre syndrome).	false
+a452e9dccf548e42651ad6afb00361b38c334645	At the age of 5 years he developed @PHENOTYPICFEATURE$, tremor, ataxia, proximal muscle weakness, external ophthalmoplegia, and a @DISEASE$ retinopathy (Kearns-Sayre syndrome).	false
+0f41337a93e42cb5d92f794c94a0aad39bfc55fd	Diseases treated were: Leigh syndrome (n=7), polymerase ? deficiency (n=5), MELAS (n=5), Friedreich @PHENOTYPICFEATURE$ (n=2), @DISEASE$, Pearson syndrome, and mtDNA depletion syndrome.	has_symptom
+ba55a98fe390cb537762841f30609c0c32956a5f	The @DISEASE$ is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, @PHENOTYPICFEATURE$ and brain abnormalities such as leukoencephalopathy.	has_symptom
+79db25940324696d9b71640d57d8cabdba76eca1	@DISEASE$ (KSS) is a mitochondrial disorder consisting of external ophthalmoplegia, retinitis pigmentosa, @PHENOTYPICFEATURE$ and heart block.	has_symptom
+24d3135bdef9c5dc7765ac2aa76f14d1ceb48756	Some patients had only ocular myopathy, whereas others had @DISEASE$, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and @PHENOTYPICFEATURE$.	has_symptom
+3d2408844d95a7ac4387f2afa5a12c60539622d6	Some patients had only ocular @PHENOTYPICFEATURE$, whereas others had @DISEASE$, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia.	false
+ebf157c4928593f31c018ef2aea8249177495889	Some patients had only ocular @PHENOTYPICFEATURE$, whereas others had Kearns-Sayre syndrome, a @DISEASE$ characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia.	false
+9995ff49ca2a593487f37769b61a1caf860e16ae	Some patients had only ocular @PHENOTYPICFEATURE$, whereas others had Kearns-Sayre syndrome, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and @DISEASE$.	false
+e7e6bdf006f9c437b09643393b2191b1471f045c	Some patients had only ocular @PHENOTYPICFEATURE$, whereas others had Kearns-Sayre syndrome, a multisystem disorder characterized by ophthalmoplegia, pigmentary @DISEASE$, heart block, and cerebellar ataxia.	false
+bd1c1096e9d290d663cedc2da063d16114adb85f	Some patients had only ocular @PHENOTYPICFEATURE$, whereas others had Kearns-Sayre syndrome, a multisystem disorder characterized by ophthalmoplegia, @DISEASE$ retinopathy, heart block, and cerebellar ataxia.	false
+051ff26123c22a58e67fedad81c7089b9a598d71	Methylmalonic acidopathy resulting from severe @DISEASE$ causes acute, potentially lethal ketoacidotic episodes, @PHENOTYPICFEATURE$, and acute and chronic neurologic disease.	has_symptom
+9916242a51d55b06b01e20abd82e793c6ef9fc94	At the time of bone marrow transplantation, he had increasing @PHENOTYPICFEATURE$, increasing M-protein (IgG kappa), and a bone marrow diagnostic of @DISEASE$.	has_symptom
+421f689f0095764ae408371fd0bc3ec9cf491cb9	The most common presenting features of @DISEASE$ are @PHENOTYPICFEATURE$, anemia, renal failure or hypercalcemia.	has_symptom
+a59fec022c831c4e79964b92d8d1061fa484ba60	The most common presenting features of @DISEASE$ are bone pain, anemia, renal failure or @PHENOTYPICFEATURE$.	false
+0c66f6331c5b544c83101dfae5fc55081f5b39d3	The most common presenting features of multiple myeloma are @DISEASE$, anemia, @PHENOTYPICFEATURE$ or hypercalcemia.	false
+f6042b7c5e48a5ec3d18dad870cffc84eac60514	The most common presenting features of multiple myeloma are @DISEASE$, anemia, renal failure or @PHENOTYPICFEATURE$.	false
+a22374602a5c5b4b3b2d392b71d021ed0afdb115	The most common presenting features of multiple myeloma are @DISEASE$, @PHENOTYPICFEATURE$, renal failure or hypercalcemia.	false
+905fe142c08972b2f003aebab9dab6cea81ea715	The most common presenting features of @DISEASE$ are bone pain, anemia, @PHENOTYPICFEATURE$ or hypercalcemia.	false
+d4b6b60704b50426c48e6ab9632edacea9b13c57	The most common presenting features of @DISEASE$ are bone pain, @PHENOTYPICFEATURE$, renal failure or hypercalcemia.	false
+d9f685ec9e95b6496222c25590a86cea1e149015	Holistic care and the provision of an array of pain relief methods is required to achieve effective pain control in @DISEASE$ @PHENOTYPICFEATURE$ and requires a concerted effort from the healthcare team to be realized.	has_symptom
+deaf53ec817ded330969f91485f64651298d3741	@DISEASE$ bone disease (MBD), the skeletal lesions caused by multiple myeloma, is also known as skeletal related events and includes @PHENOTYPICFEATURE$, osteoporosis, pathological fractures, osteolytic bone lesions, spinal instability, spinal cord and nerve root compression and extramedullary plasmacytoma.	has_symptom
+2fd9f1b8cb0af7826cb0cc86a686365e51975efe	Myeloma bone disease (MBD), the skeletal lesions caused by @DISEASE$, is also known as skeletal related events and includes @PHENOTYPICFEATURE$, osteoporosis, pathological fractures, osteolytic bone lesions, spinal instability, spinal cord and nerve root compression and extramedullary plasmacytoma.	has_symptom
+a59c7b006d4f5ff85c132fbe33736510501cb9d2	@DISEASE$ causes debilitating clinical symptoms including intractable @PHENOTYPICFEATURE$, disabling multiple fractures and hypercalcemia.	has_symptom
+262458252df7b6cf69d659118497e25110a891a6	Multiple myeloma causes debilitating clinical symptoms including intractable @DISEASE$, disabling multiple fractures and @PHENOTYPICFEATURE$.	false
+a352c42d5c8c4fae132d8f81529ab6a1177f4702	@DISEASE$ causes debilitating clinical symptoms including intractable bone pain, disabling multiple fractures and @PHENOTYPICFEATURE$.	false
+e757b03cf735a4ef982d39c0ed1e86d1e51ef115	We report a 59-year-old acromegalic woman, who presented with generalized @PHENOTYPICFEATURE$, weakness, fatigue and foamy urine, who was found to have @DISEASE$ (MM); and a 60-year-old acromegalic woman with dizziness, vomiting and abdominal pain, high blood pressure and splenomegaly that was posteriorly diagnosed as having Waldenstrom's macroglobulinemia (WM).	has_symptom
+fd32770bd16c6a7a9fe14aa33ad175db9cb13094	We report a 59-year-old acromegalic woman, who presented with generalized bone pain, weakness, fatigue and foamy urine, who was found to have @DISEASE$ (MM); and a 60-year-old acromegalic woman with dizziness, vomiting and @PHENOTYPICFEATURE$, high blood pressure and splenomegaly that was posteriorly diagnosed as having Waldenstrom's macroglobulinemia (WM).	false
+55dd439f4a675818cd35fd171d681d4f19bf85be	We report a 59-year-old acromegalic woman, who presented with generalized @DISEASE$, weakness, fatigue and foamy urine, who was found to have multiple myeloma (MM); and a 60-year-old acromegalic woman with dizziness, vomiting and @PHENOTYPICFEATURE$, high blood pressure and splenomegaly that was posteriorly diagnosed as having Waldenstrom's macroglobulinemia (WM).	false
+6a42105992fb2a38e53b5c195a00ff34f7c5419a	We report a 59-year-old acromegalic woman, who presented with generalized @DISEASE$, weakness, fatigue and foamy urine, who was found to have multiple myeloma (MM); and a 60-year-old acromegalic woman with dizziness, @PHENOTYPICFEATURE$ and abdominal pain, high blood pressure and splenomegaly that was posteriorly diagnosed as having Waldenstrom's macroglobulinemia (WM).	false
+5c64fb250cab795deff80287623617081eebc427	We report a 59-year-old acromegalic woman, who presented with generalized bone pain, weakness, fatigue and foamy urine, who was found to have @DISEASE$ (MM); and a 60-year-old acromegalic woman with dizziness, @PHENOTYPICFEATURE$ and abdominal pain, high blood pressure and splenomegaly that was posteriorly diagnosed as having Waldenstrom's macroglobulinemia (WM).	false
+3767f2c56134806e92227be972a2cc569bd1f044	The current analgesic pathways used to treat @DISEASE$ @PHENOTYPICFEATURE$ and new advances in therapies that may confer future benefit to patients will briefly be reviewed.	has_symptom
+3a040e40482e281f5ecbd83d5a5edf81c5ee3fdd	The usual clinical presentation of @DISEASE$ is @PHENOTYPICFEATURE$ and pallor.	has_symptom
+93fa5d52c4047254f93491a09c1da4045cd55a78	@DISEASE$ (WRS) is a form of segmental progeria presenting neonatally, characterised by @PHENOTYPICFEATURE$, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face.	has_symptom
+995222f1f0d988650a7be06607f5d5592d4b9e83	Neonatal progeroid syndrome, also known as @DISEASE$, is a rare condition characterized by severe @PHENOTYPICFEATURE$, apparent macrocephaly with prominent scalp veins, and lipodystrophy.	has_symptom
+cbb5da96be4404408d45be3b3497f66a658c908a	@DISEASE$, also known as Wiedemann-Rautenstrauch syndrome, is a rare condition characterized by severe @PHENOTYPICFEATURE$, apparent macrocephaly with prominent scalp veins, and lipodystrophy.	has_symptom
+3caea3222edaaabab8faf1f1a922ae6698281c3d	@DISEASE$ (WRS) is a neonatal progeroid disorder characterized by @PHENOTYPICFEATURE$, lipodystrophy, a distinctive face, and dental anomalies.	has_symptom
+e490a21ffc48c14cbf48793ac245fe3d054109ce	Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by @DISEASE$, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+79a9baa27bed7fa4bf707bf286ba2ac480586510	Wiedemann-Rautenstrauch syndrome (@DISEASE$) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+602f3b34ee40c97cdfe47e7388c106211da73896	@DISEASE$ (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+9d8f15dbff387d14f540fcd123cc6025b752ee3a	We propose that their clinical picture is consistent with @DISEASE$ (retinitis pigmentosa, hypopituitarism, nephronophthisis, and @PHENOTYPICFEATURE$) and that they represent the first instance of a familial occurrence of this syndrome.	has_symptom
+d15b9cefa6c86e88d65a4f824ac094f3b60438f4	We propose that their clinical picture is consistent with RHYNS syndrome (@DISEASE$, @PHENOTYPICFEATURE$, nephronophthisis, and skeletal dysplasia) and that they represent the first instance of a familial occurrence of this syndrome.	false
+49610afeb98b3eeae731eff2faa7cf1110e21d46	We propose that their clinical picture is consistent with @DISEASE$ (retinitis pigmentosa, @PHENOTYPICFEATURE$, nephronophthisis, and skeletal dysplasia) and that they represent the first instance of a familial occurrence of this syndrome.	false
+3aa1ed3e8147e635fe43d3a012e3bf9c499ae520	We propose that their clinical picture is consistent with RHYNS syndrome (retinitis pigmentosa, @PHENOTYPICFEATURE$, nephronophthisis, and @DISEASE$) and that they represent the first instance of a familial occurrence of this syndrome.	false
+ff31d7468cdc47dc013e56272328750a895c9236	Retinitis pigmentosa, growth hormone deficiency, and acromelic @PHENOTYPICFEATURE$ in two brothers: possible familial @DISEASE$.	has_symptom
+e797875fa1b864e558a0431cc1f7c109377bb730	Interestingly, ketogenic diet (KD) was started and both @PHENOTYPICFEATURE$ and classical @DISEASE$ paroxysmal episodes stopped.	has_symptom
+060ed221fc36da8a59c9e5528b778d5200e8ffc7	The type of cortical dysplasia, however, did not predict @PHENOTYPICFEATURE$ onset in the @DISEASE$ or TN.	has_symptom
+3272cde1eb26c0646db2fc0531470513fed5aa8b	However, @PHENOTYPICFEATURE$ episodes and cognitive impairments were not alleviated in @DISEASE$ with long-term drug therapy.	has_symptom
+ac77c424cd98e6a7c730404713b0cd32201926d8	Hyponatremic @PHENOTYPICFEATURE$ and @DISEASE$ in a Neonate with Congenital Diaphragmatic Hernia.	has_symptom
+e775a9f1c04a1151c067c85167ccf490abeb9f5f	Mutations in the ATP1?3 subunit of the neuronal Na+/K+-ATPase are thought to be responsible for @PHENOTYPICFEATURE$, hemiplegias, and other symptoms of alternating hemiplegia of childhood (@DISEASE$).	has_symptom
+8ecaf60bfe6a3ce907b725c914f879082aa283ba	The results suggest that stereotactic volumetric RF lesioning of the @DISEASE$ and the CC may be safe and effective in controlling intractable @PHENOTYPICFEATURE$.	has_symptom
+d9c3927458d2a97b3c6c0ef180e863f3207bba44	Of the @PHENOTYPICFEATURE$ 41.3% arose from the amygdala/hippocampus complex (@DISEASE$), 34.7% from the TN, 22% were simultaneously recorded from AHC and TN (indeterminate seizure onset), and 2% from other regions.	has_symptom
+8b92efc1f66978fdc73900a1f9753eab7959f83f	Of the seizures 41.3% arose from the amygdala/hippocampus complex (AHC), 34.7% from the TN, 22% were simultaneously recorded from @DISEASE$ and TN (indeterminate @PHENOTYPICFEATURE$ onset), and 2% from other regions.	has_symptom
+b4c245a84f51609ed154e17ff6b2f95eb9a6c459	Of the seizures 41.3% arose from the amygdala/hippocampus complex (@DISEASE$), 34.7% from the TN, 22% were simultaneously recorded from AHC and TN (indeterminate @PHENOTYPICFEATURE$ onset), and 2% from other regions.	has_symptom
+2b38161e29665631646959266d4bb0f7f65e2968	Of the @PHENOTYPICFEATURE$ 41.3% arose from the amygdala/hippocampus complex (AHC), 34.7% from the TN, 22% were simultaneously recorded from @DISEASE$ and TN (indeterminate seizure onset), and 2% from other regions.	has_symptom
+0780bc102f70a15049faff3683611dbe491f22de	RF-ablation of the amygdalohippocampal complex (@DISEASE$) is a stereotactic technique, performed under local anesthesia, which achieved long-term @PHENOTYPICFEATURE$-free clinical seizure outcomes in 71% of mTLE patients.	has_symptom
+49409b44a610f2f5be9bd007ebddebf1fbc7d0af	RF-ablation of the amygdalohippocampal complex (@DISEASE$) is a stereotactic technique, performed under local anesthesia, which achieved long-term seizure-free clinical @PHENOTYPICFEATURE$ outcomes in 71% of mTLE patients.	has_symptom
+a1a733542a6d1f35bf1d77136682e7400c463f1d	Systematic trajectory planning helps ensure safety and optimal @PHENOTYPICFEATURE$ freedom through adequate ablation of the amygdalohippocampal complex (@DISEASE$).	has_symptom
+de3db70dee505cf632922293e56c6840d911eff2	Initial symptoms of @DISEASE$ are not alternating hemiplegic episodes, but rather asymmetric abnormal eye movement, dystonic posture, or @PHENOTYPICFEATURE$.	has_symptom
+e48341fcd1e6ff948b87f17ba08cbd5ef3a28d73	Initial symptoms of AHC are not alternating hemiplegic episodes, but rather asymmetric @PHENOTYPICFEATURE$, @DISEASE$ posture, or seizures.	false
+2424d15f5b8a6fee6c78da61bdcb096041b9abd1	Initial symptoms of AHC are not alternating hemiplegic episodes, but rather asymmetric @PHENOTYPICFEATURE$, dystonic posture, or @DISEASE$.	false
+f3a64265cc55cb5e83735f84094bd4cdd7c1fbe2	Initial symptoms of @DISEASE$ are not alternating hemiplegic episodes, but rather asymmetric @PHENOTYPICFEATURE$, dystonic posture, or seizures.	false
+e00456b736c844e689227d4b8f1ffc0a79992612	The findings of myelofibrosis, retinopathy, and @PHENOTYPICFEATURE$ indicate that this could be a case of a rare condition known as @DISEASE$.	has_symptom
+36d04fac91574089d3b0b330d05fa0382979c4af	@DISEASE$, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, @PHENOTYPICFEATURE$, and neurocognitive impairment.	has_symptom
+60a209447c231c932e9271543f1c5bed5cc0a8c4	Congenital insensitivity to pain with anhidrosis (CIPA), also known as @DISEASE$, is a rare @PHENOTYPICFEATURE$ condition.	has_symptom
+62c059a8bce2a9416467cf429dc545fc15e2a310	We coin the acronym @DISEASE$ (Glaucoma, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	has_symptom
+c468750ac28090409ad536fd131dca6351a23dc4	We coin the acronym GEMSS syndrome (@DISEASE$, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+37e8949b2a4a71141dab57c57d57f0e4f2c66aad	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like @DISEASE$ from the classic, recessively inherited syndrome.	false
+0574a1918d1eb71fbcc05d5df5980774cae14797	We coin the acronym @DISEASE$ (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+c683258a78e8bdc923128592033057368223c993	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, @DISEASE$, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+353be127f987c78d4376036aa5912f2196076c9f	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited @DISEASE$.	false
+209a6a30ac22354222d3a09569d0dd97872c3bff	9 similar cases have hitherto been published describing vascular dilatations in the optic nerve of children suffering either from @PHENOTYPICFEATURE$ or @DISEASE$; none of the authors had related these changes to an increased intraocular pressure.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+e308cdc41b7ea58f745a75c8f3e7d38eae35e4b9	Blinding diseases in humans, such as macular degeneration, photoreceptor degeneration, cataract, @PHENOTYPICFEATURE$, @DISEASE$, and diabetic retinopathy have been recapitulated in transgenic mice.(1-5)	has_symptom
+9a7021e0c1058f78b499b968ea4c79d87da7d766	Blinding diseases in humans, such as macular degeneration, photoreceptor degeneration, @PHENOTYPICFEATURE$, @DISEASE$, retinoblastoma, and diabetic retinopathy have been recapitulated in transgenic mice.(1-5)	false
+5f3471dc63f35eea5b8794eb59bc92f2e864857b	Blinding diseases in humans, such as @DISEASE$, photoreceptor degeneration, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, and diabetic retinopathy have been recapitulated in transgenic mice.(1-5)	false
+02e4a19f15a268920f58a2ca9873d16459d2310c	Blinding diseases in humans, such as macular degeneration, photoreceptor degeneration, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, and @DISEASE$ have been recapitulated in transgenic mice.(1-5)	false
+2018911403496f64d726056b64d19e035c3ee7ff	Blinding diseases in humans, such as macular degeneration, photoreceptor degeneration, @PHENOTYPICFEATURE$, glaucoma, @DISEASE$, and diabetic retinopathy have been recapitulated in transgenic mice.(1-5)	false
+6ecf0ed056bdb11fc4127f1ac0121a64dc2cc8f6	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	has_symptom
+45ef2fcbab8de48feae76a1c0e75573fc295bddc	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	has_symptom
+0401a9df0090813b5226bd7e03fdab2491d85429	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), @DISEASE$ (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+ff4f3c0bfde7d3f76b6bf88c795d74e810eebfca	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and @DISEASE$ associated with retinoblastoma (0.6%);	false
+59e04fa2f51d31aa97b1a8223b9a9a43e1c7f974	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+b5dbc77f812b3ac28453100d764d993dfd14a452	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+6fc84c4bc3f22fceaad17b0d26e7d5beb9e97ffb	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), @DISEASE$ secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+8325dd782d289b365e08ac95bfe510fbfd097ff8	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic @DISEASE$ (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+228e9f182b07323c26adf473a2217aa2b67e4326	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and @DISEASE$ associated with retinoblastoma (0.6%);	false
+123e3ef31a4d56e0f842f33ff44d5b78d235e814	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), @DISEASE$ (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+b158d0870d2c44a9d8b65b1d6e7299d70c159c55	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+cc9a6746a9baeb1df06645bd1010679005219bde	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @DISEASE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+fcda37a4bf38fec4264a9f7f6b84a7cbf47a029a	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic @DISEASE$ (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+ae649ebbf00f2fde02bd97970ca3c7f672a30990	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	false
+d90448d7daa8b23bd2a45e6925aea40eeeeabb57	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative @DISEASE$ (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+e85b004e3c6622db7b57b2c295ce936df346f304	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), @DISEASE$ (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+6661760b6c93bf7f44313d6115383a7b02720f35	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	false
+ae929701b0b05490523733559e4db5ff61e8a862	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative @DISEASE$ (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+0925026bfaf2feaef6b410f1dab502a7315e874d	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), @DISEASE$ (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+4d47de2561fc816f5d10093cc4a93442463370d3	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), @DISEASE$ (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+c33aab2624c9b17aaf36daa53adc2a19a8caf90b	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+663d4f05c5cf52eecd1c5b4b6634852e9171d3a2	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ @DISEASE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+3ee439b514e923545d543dbfef2bc7917e2440b5	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), @DISEASE$ (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+c0ffa5366182dbae4f4f56cc144a9f24d8139f02	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @DISEASE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+8cd01b45ac4e0740c0e1bfd99716d51da8f061d1	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), @DISEASE$ (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+1e952776e7ed097d8ac6e49b4639f3bc06c6e3a1	The frequency distribution of the various subtypes of @DISEASE$ was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+a28cb795859909f88411c9ed4137e85a3c85a87b	The frequency distribution of the various subtypes of @DISEASE$ was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+8872d2a3638f4579350e387e2e44e86a63aee358	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), @DISEASE$ secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+f1093564997d5907beb26f6bc003a21215b5ca9c	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ @DISEASE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+caa5940d9b9fbcaa9ea78462ebeacc439e4575d3	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), @DISEASE$ (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+486d7d6b340dcce6f033bf3dd61b453e40fd192d	[@DISEASE$ associated with myopathy with @PHENOTYPICFEATURE$, psychomotor retardation and hyperlipidemia.	has_symptom
+34d474d4ed1bc80d5a4618a7ff78e64e77c30171	[Congenital adrenal hypoplasia associated with @DISEASE$ with muscle hypotonia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+9d843bcd87ad53e1bbbb8337215828fd117b573a	[@DISEASE$ associated with myopathy with muscle hypotonia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+caddb0c8321974619c1d6fb94a200190f14a5f1b	[Congenital adrenal hypoplasia associated with myopathy with @DISEASE$, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+11fee58bfb9e7687627164c433546ef4f866910b	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$), and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS).	has_symptom
+6611c3a07b641e2cf10e15ea83e6884a111b5f5c	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset @DISEASE$ Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS).	false
+9903a4d91139bac2442fdbceef8a4a4123c7d3a2	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and @DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS).	false
+321e7aec9ab63e1b1712c399e258e7dd5c6f910d	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three @DISEASE$ Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and Cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS).	false
+7f9512e3c512dfbbac081414e71f4fbf7113a718	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and @DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS).	false
+5aae045ed25311037e8ff1d78b2867735c2de089	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset @DISEASE$ Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and Cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS).	false
+61a34d05423c9746dc392b5f2626665f255a0075	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$), and Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS).	false
+c2b98e7308d416e79fbc26abf10a517de1fbc6cd	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three neurological diseases Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$), and Cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS).	false
+a0925032a1107582159cf67e942e15d1d1c2ca81	These processes are required for normal brain activity, and in fact autosomal dominant de novo mutations in ATP1A3 encoding the ?3 isoform has been found to cause the three @DISEASE$ Rapid Onset Dystonia Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS).	false
+d406a4d7b680306dd298cd6ac36ff64e05754842	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	has_symptom
+fc1dbc234b79934981e913aae07caa2d7028dcd2	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+0bd9ce7de931de49fbe79394d2090aa7e5f34e74	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+9d43c116536b2c00088efb7d9d6ff20dafe6cb52	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+286e97089197a4f672ee0e7a4487ac6c9cab0cad	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+5e5c83cf37b7c41727350229af525a77003f7415	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+010fafdfa5a7f37d323aab12f871f0fed635e602	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+9cd25bb01eb4d4075527fa662c5460ee7f8b456d	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+1665825ca46b27a22eb9f16a5e32b314542801ed	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+129b79f8744cb0aea86d3d83ab0a99c062ed5e67	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and @PHENOTYPICFEATURE$, pes cavus, optic atrophy, and sensorineural hearing loss?(CAPOS), with recent descriptions of overlapping phenotypes.	has_symptom
+15225e3d5c1e451027fcad9aa5429843acce9e14	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and cerebellar ataxia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+370608d77a590751fc781f07a52e0bfd442f774a	Mutations in ATP1A3 are involved in a large spectrum of @DISEASE$, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+6ccc9f68ea022fbd337439a4ca9d62b99d9ca3d8	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and cerebellar ataxia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+f9cc5a8d2947bcb2df0783a281351b565da3721e	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset @DISEASE$ parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+e490841d5a76c6bbd0e6b8ea29643899802300c6	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset @DISEASE$ parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+d48d1473f9406e2c31a60165db5e957e3ec30d0c	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and @DISEASE$, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+da0e9c73d2723727e26f0815eb5e3f2292016093	Mutations in ATP1A3 are involved in a large spectrum of @DISEASE$, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+9894326476eaef6a98f7f1e1aec3821732c83277	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and @DISEASE$, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+e9e28e832a4f31fc86e7de7d960d2fbaa2589277	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$), as well as the @PHENOTYPICFEATURE$, areflexia, pescavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome.	has_symptom
+106dc8b67b82b0bc4801ea599a05b7db57434dbd	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset @DISEASE$-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+e1f5c438e077e245348e9bf1309cd18145225b64	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the @DISEASE$, areflexia, pescavus, optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+f14b2265786507fc284cdf7f053571545b157a65	Mutations in ATP1A2 gene can result in @DISEASE$ (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+8c1ca9296612565e3cd45e77e9636fa46df4728b	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset @DISEASE$-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, @PHENOTYPICFEATURE$ and sensorineural hearing loss (CAPOS) syndrome.	false
+5648360c4ae62d33d7dd3a12c5cb92d93ff99fbc	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$), as well as the cerebellar ataxia, areflexia, pescavus, @PHENOTYPICFEATURE$ and sensorineural hearing loss (CAPOS) syndrome.	false
+8448be2e4ec0b1279a3ebc324b0568c20be434b6	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, @PHENOTYPICFEATURE$ and sensorineural hearing loss (CAPOS) @DISEASE$.	false
+04514e7fdefedd11b7c76970e10b4c676f12688d	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the @DISEASE$, areflexia, pescavus, @PHENOTYPICFEATURE$ and sensorineural hearing loss (CAPOS) syndrome.	false
+9f2f545b027894822d8bd8920773f34fb1cade2f	Mutations in ATP1A2 gene can result in @DISEASE$ (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, @PHENOTYPICFEATURE$ and sensorineural hearing loss (CAPOS) syndrome.	false
+7d16d68782061929db99e1909351a16de034ad3f	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$), as well as the cerebellar ataxia, areflexia, pescavus, optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+264824752a393d66cb3cd3ed5fd7da2e5140c7ae	Mutations in ATP1A2 gene can result in familial hemiplegic migraine (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) @DISEASE$.	false
+cb092643c498cf37bcac05300f7b05f207b5e806	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in @DISEASE$, @PHENOTYPICFEATURE$ encephalopathy and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	has_symptom
+19f720efe8f304e1517b4e55c6d23a411c999c7e	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of @DISEASE$/parkinsonism in RDP.	false
+8224ba042e478668a56c807a3b5d20aa5ced583b	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in @DISEASE$ and late onset of dystonia/parkinsonism in RDP.	false
+4809d3e4a7493265cd7cd5be9e54e011978a2086	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/@DISEASE$ episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+c7e94ac3d9bb8350787ae338d0774f67cabb3277	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in @DISEASE$, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+453e992726fd5fa49518ab9aaeec799cdbccc697	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, @DISEASE$ @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+b0ebd58fa949da31c78816361f492196444b8a21	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$), and most recently, @PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome.	has_symptom
+be076c671a68f5f696acee96328cf86e3d34e98b	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss (CAPOS) @DISEASE$.	false
+0d4838fc6cd6275dbde974559491c535b0a0f04d	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, @DISEASE$, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+1504540a0b46bdc2084ce6a2575e4e573312b51a	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, @DISEASE$, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss (CAPOS) syndrome.	false
+938edd63d9f87b0387954ef31fcbc8f45521ea88	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss (CAPOS) syndrome.	false
+baa75ce168caba0b427f091f397739bd0d978761	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset @DISEASE$-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss (CAPOS) syndrome.	false
+1fd9349482d704bc4d45d9dd776e40b6e9479e63	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset @DISEASE$-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+d9cb0f9e1d8cd3e2706ce011688721daee962081	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+f5fd8a291907dd3214ec6fe1fba08d1d35b7e18f	ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS) @DISEASE$.	false
+997a8a397a41e2e255fd9819c61a96da6b63fc28	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	has_symptom
+a9a72a4cadd6f7180fc4f88e7c5ee273365414b6	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+a358c8ef6cba23586023f1c23f67e207457f260c	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@DISEASE$, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+a6b5fd3d9efbd036a3ec26a3b97134083a695594	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+e500255c78fdedaf8bed09e0230bf4ade2944386	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+e73b38c3b8e69c5b233e6764b375bd0b570e9f01	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@DISEASE$, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+e45ac54a64cd78d24e86c16ace2d5ad7333630f6	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+a667f647668cdcea394fb50f6531227cfbe3d14e	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+9863696873ec5ca1fe7da1e53e0e03b3b2120ece	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+21d39e3fd9b7b452e97d01e46bfe492bca432cff	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$) with overlapping symptoms, including hemiplegia, dystonia, @PHENOTYPICFEATURE$, hyperactivity, epileptic seizures, and cognitive deficits.	has_symptom
+8f6b88ebcca47e1c051b29ad7183beddb6640444	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, @DISEASE$, ataxia, hyperactivity, @PHENOTYPICFEATURE$, and cognitive deficits.	false
+d6d1d45cd28d2ee800f6bd2680355a533f70f3a9	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, @PHENOTYPICFEATURE$, and cognitive deficits.	false
+412b5ef480ce0628b16def59466b6c8228084c95	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+70ae97414daaeeb67dbf7b18679a08f539f61ae9	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including @DISEASE$, dystonia, ataxia, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+a3d668615010cc48008f268b21b89e5fa93decea	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset @DISEASE$-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, @PHENOTYPICFEATURE$, and cognitive deficits.	false
+b68315ae271733801e6cbf00a3ee1f44c3ace0db	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different @DISEASE$, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+4716cc52d7ecaf56b4abcf861df5fdfc0c640d07	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including @DISEASE$, dystonia, ataxia, hyperactivity, @PHENOTYPICFEATURE$, and cognitive deficits.	false
+41da4177f980a9897d0c292d376a411dae9492db	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, @DISEASE$, hyperactivity, @PHENOTYPICFEATURE$, and cognitive deficits.	false
+5fdd4f7e7ca2387198491bfe0c975548ab1a71d7	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, @DISEASE$, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+7947cd98bae759134fd186afbe8e1420a442f51a	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different @DISEASE$, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, @PHENOTYPICFEATURE$, and cognitive deficits.	false
+1a17625dc394ba33d9938d3b352ef90b557e3a2f	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset @DISEASE$-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+e95479b01add5e99a8530478caadcf2c2a29e437	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC) with overlapping symptoms, including hemiplegia, @DISEASE$, ataxia, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+0b62e81fed8438768ea20444cd81324a6d83453c	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes.	has_symptom
+12388e29df22c54b7139e29950766f6aa15481ce	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes.	false
+a4a4c921053899e3e1c8b5ff78bff8f3091eb8a6	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset @DISEASE$-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes.	false
+a5bf0ad1ab34c1792b8a3672ac67253a272e5227	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and @DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes.	false
+23f9fe485aa242c163bb44199d0ea74d45e0f2c4	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and @DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS), together with many other intermediate phenotypes.	false
+7af7069d1a94c9fbf6f7ccaf305d93a006116275	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS), together with many other intermediate phenotypes.	false
+6ba1fc095d1830c7557e418176f33370311085ec	ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset @DISEASE$-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS), together with many other intermediate phenotypes.	false
+1c2354de96f608f37ed8622c66ecc3f8f3cbe2ce	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$) and @PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome.	has_symptom
+c2683ef64e3f097d8311ef44f479ab362f66efcd	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset @DISEASE$-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+1e841937da63678cf4643a238878ea78829ab617	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and @DISEASE$, Areflexia, Pes cavus, @PHENOTYPICFEATURE$ and Sensorineural hearing loss (CAPOS) syndrome.	false
+6dae5c3cd47ec416591897a725a29ad04dab1706	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) @DISEASE$.	false
+2c20b070396d98ec9f7a3cd4595eff1169ea6203	-subunit of sodium-potassium ATPase, are related to a spectrum of @DISEASE$ including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+857fee974c6eb23317f01ef74b5582ab9636cf00	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$) and Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$ and Sensorineural hearing loss (CAPOS) syndrome.	false
+f74362372f906f5f0afb75e095ed390638b81ab2	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and @DISEASE$, Areflexia, Pes cavus, Optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+cd023647284e415f25fc5b4002c3aea19f63fa67	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$ and Sensorineural hearing loss (CAPOS) @DISEASE$.	false
+7c1e1fdff0d06af547e9dd340c6aa62251ce47fa	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset @DISEASE$-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$ and Sensorineural hearing loss (CAPOS) syndrome.	false
+4c2ff1afb08ce60f0cd5a55b5e45fbf7b458efe7	-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (@DISEASE$) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+633a62d24c191376e31a960d9ac112d45da7ef1c	-subunit of sodium-potassium ATPase, are related to a spectrum of @DISEASE$ including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$ and Sensorineural hearing loss (CAPOS) syndrome.	false
+021455b05f1e3d747defc9edd1eafac961bda958	The initial manifestation of autoimmune polyendocrinopathy-candidiasis-@DISEASE$ may be autoimmune hepatitis, keratoconjunctivitis, frequent @PHENOTYPICFEATURE$ with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis.	has_symptom
+fe0b334a3a2215ed20ea6c8bdf543e67ecdb6fe4	Although abdominal complaints rarely appeared as an initial symptom in the patients with @DISEASE$, this syndrome should be taken into consideration for an accurate diagnosis when the patients with @PHENOTYPICFEATURE$ of unknown origin had eosinophilia, asthma, or allergic rhinitis.	has_symptom
+e960bc8cd15833103505c8e35d4f7c4d35c9bc03	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, fever, weight loss, @PHENOTYPICFEATURE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	has_symptom
+4000e4790403babc731b1ef60a078f87dd289c6a	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, weight loss, abdominal pain, skin lesions, @DISEASE$ and pulmonary infiltrates with eosinophilia.	false
+d41017f3d75c5f18a24afa2e8604f489e04acf69	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, @PHENOTYPICFEATURE$, abdominal pain, skin lesions, @DISEASE$ and pulmonary infiltrates with eosinophilia.	false
+d11bf773a375d4d263bf21e8a59e6e015137c206	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, weight loss, @DISEASE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+77dfa86bce70241ec3b3b4261ad4137525a76c64	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, weight loss, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+4fdc553cc8d2f36252e6a0b6920fb87cb80964c8	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, fever, @PHENOTYPICFEATURE$, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+dd561df808984984fdef07fc94d7ff9ff89e4c68	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, @PHENOTYPICFEATURE$, @DISEASE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+18983ffe92f059e3119895d5663cd3b5ab868c6d	We describe a case of @DISEASE$ presenting with @PHENOTYPICFEATURE$ and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs.	has_symptom
+ac3f5639ffd7ff571e13d0b9b219961d3ede0b94	We describe the case of a 33-year-old woman having corticosteroid-refractory @DISEASE$ (EGPA) who presented with @PHENOTYPICFEATURE$ and responded dramatically to plasma exchange.	has_symptom
+c56d342423402e6027e2f0be38e07d42fc58cedc	We report a rare case of @DISEASE$ (CSS) in a 41-year-old Japanese man with a history of middle-age onset of bronchial asthma who had severe @PHENOTYPICFEATURE$.	has_symptom
+16154ec663153ab42e173b950e0d8a25c0b2f9e4	We describe a 10-year-old girl with @DISEASE$, who presented with acute @PHENOTYPICFEATURE$, bloody diarrhea, and pulmonary infiltrates.	has_symptom
+d7bdcaed7921baf38c52231c0504edca2ab7a5d6	We report a novel case of cutis tricolor in a 10-year-old girl who had dysmorphic facial features [alike those seen in cases with syndromic (@DISEASE$) cutis tricolor], overall overgrowth [weight, length, and head circumference were >90th percentile; there was increased bone age], mild cognitive delay (current IQ=55), behavioural disturbances, @PHENOTYPICFEATURE$ and (later) partial complex epilepsy (currently under good control), and skeletal defects [i.e., posterior scalloping of the lumbar vertebrae].	has_symptom
+e6d54ac764a0f769de8854f6bf73ad6480d54d03	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including @DISEASE$, postmenopausal breast cancer, endometrial cancer, @PHENOTYPICFEATURE$, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	has_symptom
+2c0f6dfd25d8e34cf5fc2d0660a5672215f02a48	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @DISEASE$.	false
+e30a0faba5a410ec9b4bcfa33bafd7b48b6e49ec	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, @DISEASE$, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+5f2fae1a161cc38f0b253a2f04a89246bc0dd406	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, @DISEASE$, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+1ad6d4d08f2f7a884bca5732c85c028298e9b3fb	Besides the well-established effects on @DISEASE$ and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+b0228a60f89268a53b575973a03bc1657b820476	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c444580a4e23377519d9bebdc728e5af0421939f	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @DISEASE$.	false
+1eb71d56b1ba4d7c78676dd14ff9c6dec9e9e1a5	Besides the well-established effects on type 2 diabetes and @DISEASE$, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+86d8e92959b7822b156d0b5d8054df51568eb8ad	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, @DISEASE$, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+03303956337098aaf12067678e0a2605da3109dd	Besides the well-established effects on @DISEASE$ and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+ecdfa0c8f9394ce1ebcda96515ea2761fe32cd81	Besides the well-established effects on @DISEASE$ and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+684a843d40a6dbb410a0a16c9e6c60e200a8fa18	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including @DISEASE$, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+f0b851b67d22167ecba28bcc9de6ecdabe025826	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including @DISEASE$, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+2d00ee8c6f7435f1343426d251c48f0566b583c8	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of @DISEASE$, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+fd90393d03a0bda75d93dd74dbc6d367451f7fd0	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, @DISEASE$, pancreatic cancer, and liver cancer.	false
+2292f4ed5789dd6a3acda31ff79c960f21d51156	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of @DISEASE$, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+a29c143f72a81ef394e928fba61e7021a3811e93	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, @DISEASE$, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+0a7db6ead52b99eb4181cb2e27cb7254083710a0	Besides the well-established effects on type 2 diabetes and @DISEASE$, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+c38467e87002a9441a039b3eee91a927c010f23d	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, @DISEASE$, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+2e156a646a91ccf1b24f898fb600c5cc2346f542	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, @DISEASE$, pancreatic cancer, and liver cancer.	false
+05feb69138df4b4477048301c6b73dc9a54a35f9	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that @PHENOTYPICFEATURE$ also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, @DISEASE$, and liver cancer.	false
+cee584ce065130dfa3cb8922b09a86002ddc554c	Besides the well-established effects on type 2 diabetes and @DISEASE$, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+0e150abb3df1be7a399b9d1f19c0c757c9dfe760	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, @DISEASE$, esophageal adenocarcinoma, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+c3b8526acac83bbae6844057938636f7025a058c	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of @DISEASE$, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+7a65224979a3d7fc5fa8c0ae440ae790cc09e1ca	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, @DISEASE$, and liver cancer.	false
+58e07d61d02c3e9fdde4dff052110817e3c395cb	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including @DISEASE$, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+3f3cb073432ef86ef1f15386ab7d2967b409db52	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, renal cell carcinoma, @DISEASE$, pancreatic cancer, and @PHENOTYPICFEATURE$.	false
+aab27961d399ab84e14e69361254251746bce495	Of 817 patients treated with onabotulinum toxin A injections for laryngeal @PHENOTYPICFEATURE$, 548 patients (12?771 injection sessions) met inclusion criteria (@DISEASE$: n?=?328, ADSD+LT: n?=?77, lateral LT without ADSD: n?=?143).	has_symptom
+adf6b62a0bd9d2aab04ccf0cb61e77a76d3c1c96	We believe that the functional analysis of PDE8B will help to further elucidate the pathomechanism of @DISEASE$ as well as contribute to a better understanding of @PHENOTYPICFEATURE$.	has_symptom
+a30cb29ee1dc2fe5f0b6b555222c6a587433416e	Autosomal-dominant striatal degeneration (@DISEASE$) is an autosomal-dominant @PHENOTYPICFEATURE$ affecting the striatal part of the basal ganglia.	has_symptom
+8b64105ecf8ad4a77842751a6de4a7c402520ae7	Coprevalent @PHENOTYPICFEATURE$ were more common in ADSD?+?LT (38.7%) and LT (57.1%) groups than in the @DISEASE$ group (11.5%;	has_symptom
+567dca03067dcb17f7bf5ccdfec4eadde55c2f04	Using ADSD as the referent, multivariable logistic regression models were used to determine whether potential risk factors including patient demographics, family history, presence of potential inciting events prior to disease onset, and coprevalent @PHENOTYPICFEATURE$ were associated with @DISEASE$?+?LT or LT.	has_symptom
+0e32abee5593add2b393905156542f71bcb6fa26	Compared to ADSD, patients with @DISEASE$?+?LT and LT were more likely to develop an additional @PHENOTYPICFEATURE$ during follow-up.	has_symptom
+1a994193e6e290c7fc5f62b728e152e9b19780e4	In multivariable analyses, increasing age, female gender, and having a @PHENOTYPICFEATURE$ at presentation were associated with significantly greater odds of having ADSD?+?LT or LT when compared to @DISEASE$.	has_symptom
+b18b802d399aa5fbf621da1cc7ac96defcb16c18	Autosomal-dominant striatal degeneration (@DISEASE$) is a rare neurodegenerative @PHENOTYPICFEATURE$ caused by mutations in the Phosphodiesterase 8B (PDE8B) gene.	has_symptom
+3100f42132ed0496877d8bd4968f3fe7b2209015	It is stressed that a diagnosis of @DISEASE$ must be entertained in infants who present with prolonged jaundice and @PHENOTYPICFEATURE$, particularly when rotatory nystagmus is associated.	has_symptom
+318fc6a731fa98b3474a9dd96b05c47fef252d39	Various combinations of pituitary hormone deficiencies were observed in patients with @DISEASE$, although SOD is a rare, heterogeneous, and phenotypically variable disorder, some patients develop @PHENOTYPICFEATURE$ and convulsions after birth, and early intervention with hormone replacement is necessary in severe cases.	has_symptom
+98133043d0f9e7052fc0847d8e75afcb1ce8150a	Various combinations of pituitary hormone deficiencies were observed in patients with SOD, although @DISEASE$ is a rare, heterogeneous, and phenotypically variable disorder, some patients develop @PHENOTYPICFEATURE$ and convulsions after birth, and early intervention with hormone replacement is necessary in severe cases.	has_symptom
+e4d0e1ff4c70fe6b7e35c4604548dde5c97ccc6b	@DISEASE$ (USH3) is characterized by progressive loss of hearing and vision, and varying degrees of @PHENOTYPICFEATURE$.	has_symptom
+88a0be24a16ca4020ae4f129169c71637e39cba7	@DISEASE$ is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of @PHENOTYPICFEATURE$ and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and Usher syndrome type II.	has_symptom
+123975746ff0cb7f36e993b1d7f057d179ae3bc9	Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of @PHENOTYPICFEATURE$ and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and @DISEASE$.	has_symptom
+4d5375f93c83ba75171a4f79cafa46c692065ac6	@DISEASE$ is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	has_symptom
+f03d155c640a3cfc6fb2c467e1359abe00b12aa1	Usher syndrome type III is an autosomal recessive disorder characterized by progressive @PHENOTYPICFEATURE$, @DISEASE$, and retinitis pigmentosa.	false
+aa565d08fcbdb333b54612eadd02294dc247bf03	@DISEASE$ is an autosomal recessive disorder characterized by progressive @PHENOTYPICFEATURE$, vestibular dysfunction, and retinitis pigmentosa.	false
+dbdf592b52746cd6c6bd327e95949647969eb956	Usher syndrome type III is an autosomal recessive disorder characterized by progressive @PHENOTYPICFEATURE$, vestibular dysfunction, and @DISEASE$.	false
+8f0df7f34ba42f1bf771dbc10039d99c9b6f8fb9	The gene encoding human myosin VIIA is responsible for @DISEASE$ (USH1B), a disease which associates profound congenital sensorineural deafness, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	has_symptom
+84415b058ad3cab39f35dc11a6e07e4ba7abc619	@DISEASE$ is a rare congenital disorder characterized by the development of abnormally dense bones, acrocephaly, severe anemia, hepatosplenomegaly and progressive @PHENOTYPICFEATURE$ and blindness.	has_symptom
+b4b1152d16fda21134c5bfb0da7cb96177e4a0b3	Genetically determined causes of @PHENOTYPICFEATURE$ may account for some cases of @DISEASE$.	has_symptom
+a20bbf49eb9c7523afb1d14d6acb338df985af52	In this study population, corticosteroid and/or immunosuppressant treatments were efficacious therapeutic interventions for WCD.Key Points?Subcutaneous nodules and @PHENOTYPICFEATURE$ were the most common clinical characteristics in @DISEASE$.?Misdiagnosis	has_symptom
+f0234f3eb85dd14f84db73656b952c0ae1991e84	In this study population, corticosteroid and/or immunosuppressant treatments were efficacious therapeutic interventions for WCD.Key Points?@PHENOTYPICFEATURE$ and @DISEASE$ were the most common clinical characteristics in Weber-Christian panniculitis.?Misdiagnosis	false
+7d2008341e5188b337de49dacbb2f7acfcef70cb	In this study population, corticosteroid and/or immunosuppressant treatments were efficacious therapeutic interventions for WCD.Key Points?@PHENOTYPICFEATURE$ and fever were the most common clinical characteristics in @DISEASE$.?Misdiagnosis	false
+d84a79775fc65e39146438c53167cd5a9ef46679	@DISEASE$ presenting with intractable @PHENOTYPICFEATURE$ and periorbital swelling mimicking angioedema.	has_symptom
+dc4d739a664e7540dd49c5a5d7963c58d4fce380	Relapsing @DISEASE$ is the term used to describe a group of diseases that presents as subcutaneous inflammatory nodules, @PHENOTYPICFEATURE$ and systemic symptoms and histopathologically displays inflammation within the fat lobules.	has_symptom
+0bce126188687e8f7d2fc777f85a5fac7a300d06	Weber-Christian disease (@DISEASE$) is a syndrome characterized by recurrent subcutaneous nodules, @PHENOTYPICFEATURE$, occasional lipoatrophy, fatigue, arthralgia, and myalgia.	has_symptom
+7d2fcce3dba069fad020039798f39e279a800846	@DISEASE$ (WCD) is a syndrome characterized by recurrent subcutaneous nodules, @PHENOTYPICFEATURE$, occasional lipoatrophy, fatigue, arthralgia, and myalgia.	has_symptom
+f9a7bed2bd829a660d9dce02132ec621c0a83b58	We experienced a case of an 18-year-old female with @DISEASE$ showing superficial keratitis with entropion, @PHENOTYPICFEATURE$, high myopia, lacrimal cutaneous fistula and characteristic facial appearance.	has_symptom
+39a3f9d9b3656844246094485b0259a35d3f04c9	@DISEASE$ (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and @PHENOTYPICFEATURE$.	has_symptom
+6d32f9e295473b3614d27d77bbf71899493fee0c	Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and @PHENOTYPICFEATURE$, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and @DISEASE$.	false
+25a0017fbf46c1166a7af06b47788f0ea8f5a265	@DISEASE$ (CdLS), a congenital disorder characterized by growth and @PHENOTYPICFEATURE$, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis.	false
+fcbc82de7fca807a1a9c929b66e3ae18b9ef96ba	Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and @PHENOTYPICFEATURE$, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, @DISEASE$, nasolacrimal duct obstruction, and ptosis.	false
+e5f42d1af0283d389a1587168051060093068d98	@DISEASE$ (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and @PHENOTYPICFEATURE$, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis.	false
+88b40b93eaf233a40974cc20cd83616aeb16d295	Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and @PHENOTYPICFEATURE$, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, @DISEASE$, nasolacrimal duct obstruction, and ptosis.	false
+855487204edaa4b33c2ceb522605a61a67c13fad	Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and @PHENOTYPICFEATURE$, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and @DISEASE$.	false
+b4cbccfef06b957ece3b1f82f1da2358cbed8bf0	Long QT syndrome (@DISEASE$) is an autosomal dominant cardiac disease characterized by @PHENOTYPICFEATURE$.	has_symptom
+0c7fafbd79aab1a636ae9fc5fa143a10afa3447f	@DISEASE$ (LQT) is an autosomal dominant cardiac disease characterized by @PHENOTYPICFEATURE$.	has_symptom
+8b88e1855d542288b0d428d277b3eb6396c2d555	Pimozide can cause acquired @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+172b6eb7b8fc38fcf04c70647dc1c054b30066f8	Torsades de pointes (TdP) is a particular variant of @PHENOTYPICFEATURE$ associated with the @DISEASE$.	has_symptom
+d74ae899aa0c6992e907649ec1f74027db1a6ac6	A neonate with @DISEASE$, refractory @PHENOTYPICFEATURE$, and lidocaine toxicity.	has_symptom
+504d65f9f95832ac188c507b582a2bfb8b81aa0b	@DISEASE$ and CPVT predispose patients to @PHENOTYPICFEATURE$ and sudden death.	has_symptom
+540dde24a4e11a293c54fd9a2171b9a7c59306ec	Similar to @DISEASE$, SQTS might result in @PHENOTYPICFEATURE$, syncope, and sudden death.	has_symptom
+182e89c6255b9bb894051d842709742bdfa9acf3	@DISEASE$ (LQTS) is characterized by @PHENOTYPICFEATURE$ and sudden cardiac death.	has_symptom
+972b4dec097118f456d9c04893ce89eeaa22e027	This posterior approach is described in five patients with the @DISEASE$ and recurrent @PHENOTYPICFEATURE$.	has_symptom
+666abd499fdb22b73312383452d71db3f0f6b026	Primidone in the treatment of the @DISEASE$: QT shortening and @PHENOTYPICFEATURE$ suppression.	has_symptom
+ece58277065fca745f3cab1cbdfa06b8a4fe4238	Restitution properties and occurrence of @PHENOTYPICFEATURE$ in LQT2 type of @DISEASE$.	has_symptom
+1c1fd3ecbb6b3767211e0c39115690d6b40fae6a	@PHENOTYPICFEATURE$ is an encapsulated nerve sheath tumor that is distinct from @DISEASE$.	has_symptom
+3495dd6684a750f8597ed8297af807d0b9d7f617	@DISEASE$ (OS) is an inherited disorder characterized by midline defects including @PHENOTYPICFEATURE$, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus.	has_symptom
+a3c805cb0da5d88bf6a9731d4ccc8af12c13ed7c	@DISEASE$ is characterized by midline abnormalities such as @PHENOTYPICFEATURE$, cleft palate, and hypospadias.	has_symptom
+88f2b202d2a9b5f0841b9bd5c53bb0757f5bab9c	@DISEASE$ is characterized by midline abnormalities such as hypertelorism, @PHENOTYPICFEATURE$, and hypospadias.	false
+291fcacae5e9930a79333e64cb181003b3bb453b	Opitz G/BBB syndrome is characterized by midline abnormalities such as @DISEASE$, @PHENOTYPICFEATURE$, and hypospadias.	false
+9a477084e9cb4b672e056ed48d32d5707585e8b1	Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+276739b51af37e1a4f04b032d7822efdf8101300	@DISEASE$ is a genetic disorder characterized by developmental midline abnormalities, such as @PHENOTYPICFEATURE$, cleft palate, and hypospadias.	has_symptom
+c99b707be354015382ea047f1995942609dec5ed	Opitz G/BBB syndrome is a genetic disorder characterized by developmental midline abnormalities, such as @DISEASE$, @PHENOTYPICFEATURE$, and hypospadias.	false
+3afd0e0d04c921bbcee063ea54b81e4ca34afefa	@DISEASE$ is a genetic disorder characterized by developmental midline abnormalities, such as hypertelorism, @PHENOTYPICFEATURE$, and hypospadias.	false
+4ec46a343d046f59949f4bda0c0fe632d92d05a5	Opitz G/BBB syndrome is a @DISEASE$ characterized by developmental midline abnormalities, such as hypertelorism, @PHENOTYPICFEATURE$, and hypospadias.	false
+b0d888b2e2e1b7240d18cb7610558b3f01d0426f	Opitz G/BBB syndrome is a genetic disorder characterized by developmental midline abnormalities, such as hypertelorism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+aaba65cef76522d7aeb3621e54f9cd768d342f70	Hypospadias associated with @PHENOTYPICFEATURE$, the mildest phenotype of @DISEASE$.	has_symptom
+15416a76861ddc9b18a12b3aee491f1e79092382	After birth the infant was recognized to have the @PHENOTYPICFEATURE$-dysphagia syndrome (or @DISEASE$, McK no.	has_symptom
+d99e2cd47dc7c420ed3eb9b567bd39a5d5e8e47c	In cases of @DISEASE$, boys are usually more heavily affected than girls, who generally manifest only @PHENOTYPICFEATURE$.	has_symptom
+8cf4f49da213f08af459552785fa962151ce6446	This is the first report of prenatal diagnosis of @DISEASE$ by ultrasonographic demonstration of @PHENOTYPICFEATURE$ and hypospadias in the second trimester.	has_symptom
+06f5b4f1854e5fe19b05a7a742609eb1394c1453	@DISEASE$, or G syndrome, is a composite of congenital malformations including @PHENOTYPICFEATURE$, hypospadias, and recurrent aspiration secondary to a disordered swallowing mechanism.	has_symptom
+eae01e2fb9ae6820c5b5115c7f147693ca6d8cf9	Examination revealed additional anomalies including @PHENOTYPICFEATURE$ and upslanting of palpebral fissures, suggesting a diagnosis of @DISEASE$.	has_symptom
+e03e7268def943527937ee3818ed56ecb79ebd74	Prenatal treatment of fetal hydrops associated with the @PHENOTYPICFEATURE$-dysphagia syndrome (@DISEASE$).	has_symptom
+f7233e78721c7d02623d9d52e0f1c2e89738401b	Prenatal treatment of fetal hydrops associated with the hypertelorism-@PHENOTYPICFEATURE$ @DISEASE$ (Opitz-G syndrome).	false
+84fb50ce20a0d4f99f0d48280b248effe8d1c265	Prenatal treatment of fetal hydrops associated with the hypertelorism-@PHENOTYPICFEATURE$ syndrome (@DISEASE$).	false
+9b7d64ffccb93a31cfcf70e2d85910504259811b	Prenatal treatment of fetal hydrops associated with the @DISEASE$-@PHENOTYPICFEATURE$ syndrome (Opitz-G syndrome).	false
+6034970a1904f24f082493ac293153409daaaeaf	@DISEASE$ is increasingly being recognised as presenting with atypical presentation like short stature, failure to thrive, unexplained anaemia, rickets, abdominal distension and @PHENOTYPICFEATURE$.	has_symptom
+c6c206b81699a5a13fe78ae97fe5fd1013644561	Coeliac disease is increasingly being recognised as presenting with atypical presentation like @PHENOTYPICFEATURE$, failure to thrive, unexplained @DISEASE$, rickets, abdominal distension and abdominal pain.	false
+3bee983085cc85bb4d22bd9a0f868c07db6941c3	Coeliac disease is increasingly being recognised as presenting with atypical presentation like @PHENOTYPICFEATURE$, failure to thrive, unexplained anaemia, rickets, abdominal distension and @DISEASE$.	false
+d48ac2847c66eace3a34ed1ed86cfd9da647b540	Coeliac disease is increasingly being recognised as presenting with atypical presentation like short stature, @PHENOTYPICFEATURE$, unexplained @DISEASE$, rickets, abdominal distension and abdominal pain.	false
+833b916ef46cc0e1f72f0d42acbd686bed7ee7b2	@DISEASE$ is increasingly being recognised as presenting with atypical presentation like @PHENOTYPICFEATURE$, failure to thrive, unexplained anaemia, rickets, abdominal distension and abdominal pain.	false
+5135b8576d78ca4a03abf68b61afd33eea2ad55e	Coeliac disease is increasingly being recognised as presenting with atypical presentation like short stature, @PHENOTYPICFEATURE$, unexplained anaemia, rickets, abdominal distension and @DISEASE$.	false
+a0d452fa913a497f300e730182c583ab5d2ddee5	@DISEASE$ is increasingly being recognised as presenting with atypical presentation like short stature, @PHENOTYPICFEATURE$, unexplained anaemia, rickets, abdominal distension and abdominal pain.	false
+210341013a28795f6fd357adf1f9a013786f74cd	@PHENOTYPICFEATURE$; Abdominal bloating; Loose stools; Hyponatraemia; Variegate porphyria; @DISEASE$; Osteoporosis; Bisphosphonates; Osteonecrosis.	has_symptom
+a3bd807b3731c06bdebf0029d2322771266b9d1b	Patients with @DISEASE$ (CD) have a wide variety of symptoms, from being asymptomatic to having chronic diarrhea, @PHENOTYPICFEATURE$, and extraintestinal symptoms.	has_symptom
+f2afa2629ab9861e13fec734ee2995d023745ec4	Meta-analyses were performed for incidence and subgroups with ? 5 studies: esophagogastroduodenoscopy (EGD) for any indication, histologic esophageal disease, and @DISEASE$, and EGD for @PHENOTYPICFEATURE$.	has_symptom
+6a6f45f0b4fa755889ea4560162aed16b9e3f170	One patient with @DISEASE$, compliant on a strict gluten-free diet for 5 months, presented with persistent weight loss and @PHENOTYPICFEATURE$.	has_symptom
+39fa6748cc4a8be1564d4da65b92e01f735e5252	@DISEASE$ is an autoimmune disorder of the small bowel, classically associated with diarrhea, @PHENOTYPICFEATURE$, and malabsorption.	has_symptom
+83760e3f6f1a18fcc6e4491e043b9f08e415a88c	Patients with @DISEASE$ may present with a myriad of symptoms such as diarrhea, @PHENOTYPICFEATURE$, weight loss, iron deficiency anemia, dermatitis herpetiformis, among others.	has_symptom
+8d4b90b6ff77b79bfdb88e59cbaeac34227e809a	To assess whether patients with @DISEASE$ (CD) are more likely than controls to develop @PHENOTYPICFEATURE$ (AP) and AP-associated functional gastrointestinal disorders (FGID) in long-term follow-up.	has_symptom
+4153d2861aca4c218d8225c0a3e9da5bde286a01	@DISEASE$ (CD) is an autoimmune disorder triggered by the ingestion of gluten that is associated with gastrointestinal issues, including diarrhea, @PHENOTYPICFEATURE$, and malabsorption.	has_symptom
+49cdc506a122a713702d0bbfc78dce8fc2a46a90	Consecutive patients undergoing upper endoscopy/histology for @PHENOTYPICFEATURE$, diarrhea, weight loss, weakness or other extraintestinal features compatible with @DISEASE$ (CD) were included.	has_symptom
+e9dd04f3c8e7ea288191ada6fda6ed25d6f7301c	Consecutive patients undergoing upper endoscopy/histology for @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, weakness or other extraintestinal features compatible with celiac disease (CD) were included.	false
+0f2be3d274ede07c74c0ceed50e9a698249c3e34	Consecutive patients undergoing upper endoscopy/histology for abdominal pain, diarrhea, @PHENOTYPICFEATURE$, weakness or other extraintestinal features compatible with @DISEASE$ (CD) were included.	false
+5c95f211ff728a141249732c69eabf384afbcd6e	Consecutive patients undergoing upper endoscopy/histology for abdominal pain, @DISEASE$, @PHENOTYPICFEATURE$, weakness or other extraintestinal features compatible with celiac disease (CD) were included.	false
+387a1832c49b9db121dee4980ea2178bf2eb03af	Unilateral @PHENOTYPICFEATURE$ is a common symptom of vestibular schwannomas in adolescent patients with @DISEASE$ or sporadic vestibular schwannomas and is often the initial clinical feature.	has_symptom
+a2143cbc5996534c21ba43827be04b638d7d4f07	A 25-year-old woman with @DISEASE$ developed contralateral side @PHENOTYPICFEATURE$ immediately after resection of vestibular schwannoma.	has_symptom
+c0c2de10196e7a61745056727cb477735ff154e2	Bilateral metastases can also be misdiagnosed as @DISEASE$. Clinical data that should alert the clinician are: rapidly progressive @PHENOTYPICFEATURE$, followed by onset of progressive facial nerve weakness.	has_symptom
+4fed62b978eb1b4d3567ee7ef7458a60cbd0a53f	It most commonly affects both sides in the genetic condition @DISEASE$, causing progressive high frequency @PHENOTYPICFEATURE$.	has_symptom
+742f3f03f0a404ce31d5d84518004171c333aefb	Acoustic neuromas and @DISEASE$ are other challenging cases, as there is always the possibility that the @PHENOTYPICFEATURE$ is secondary to cochlear damage by interference of the tumour to cochlear blood supply.	has_symptom
+a1ceded6df4c1237824e0bef4594e93201a8f2ac	Acoustic neuromas and neurofibromatosis type 2 are other challenging cases, as there is always the possibility that the @DISEASE$ is secondary to cochlear damage by interference of the @PHENOTYPICFEATURE$ to cochlear blood supply.	false
+5631828bb90d571ff4a4cb8252b68e51033d6cc4	Acoustic neuromas and @DISEASE$ are other challenging cases, as there is always the possibility that the sensorineural hearing loss is secondary to cochlear damage by interference of the @PHENOTYPICFEATURE$ to cochlear blood supply.	false
+08c3bfcdf88bf67a1620895e8db0aa1e91cad6eb	Chemopreventative celecoxib fails to prevent schwannoma formation or @PHENOTYPICFEATURE$ in genetically engineered murine model of @DISEASE$.	has_symptom
+a121db52bf6a22bea000873e7273e84a9a4c883b	Auditory brainstem implant (ABI), a standard technique in treatment of profound @PHENOTYPICFEATURE$ in patients with @DISEASE$, is now being increasingly employed in children with congenital bilateral sensorineural hearing loss, as in Michele's deformity.	has_symptom
+c9b4e9920486c16583395eb4fdee4f92b9d5068f	Patients with @DISEASE$ can present with bilateral profound @PHENOTYPICFEATURE$ caused by bilateral vestibular schwannomas.	has_symptom
+cdd5e8fdd91cb5488042eba161bfa3834cd5ab5a	The search used keywords referring to procalcitonin and systemic lupus erythematosus, antineutrophil cytoplasmic antibody-associated systemic @PHENOTYPICFEATURE$, @DISEASE$, rheumatoid arthritis, and giant cell arteritis.	has_symptom
+cd3fbd25d244f8766819dd716602b162aefac1fd	Analysis of the contraction force of the flexor digitorum muscle showed a unique type of @PHENOTYPICFEATURE$, namely, @DISEASE$.	has_symptom
+edb3a8b1a6392f6f57e624c020401229d586ab14	@DISEASE$ is an autosomal recessive disorder usually characterized by @PHENOTYPICFEATURE$.	has_symptom
+5c81c0d83dd0c2e984b54f906d354291ccefe5e3	@DISEASE$ (HS) is an autosomal recessive disorder characterized by the association of lymphedema, intestinal lymphangiectasia, moderate mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+18aaaf68f3355aa4e2d4fb9f6b611cf7e2021c7e	@DISEASE$ is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, @PHENOTYPICFEATURE$, and variable intellectual disability.	has_symptom
+9ccaf3d2d8177d0c12b204a4c9cab00920d2a520	@DISEASE$ is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable @PHENOTYPICFEATURE$.	false
+3b7410e0f3b0e95ecd51dc9d7078b0839a09ff5f	Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, @DISEASE$, and variable @PHENOTYPICFEATURE$.	false
+d13525536d98733e04bf684930156a919e6f6da3	@DISEASE$ (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of @PHENOTYPICFEATURE$, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities.	has_symptom
+cddb6ab12f6a93a116e1e14ec54e36972eeb3a34	@DISEASE$ (CED, OMIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant @PHENOTYPICFEATURE$, caused by mutations in the transforming growth factor-?1 (TGF?1) gene.	has_symptom
+61d5c581ca0fc5d38a5ee4068d9a0527a034603a	Camurati-Engelmann disease (CED, OMIM 131300), or @DISEASE$, is a rare autosomal dominant @PHENOTYPICFEATURE$, caused by mutations in the transforming growth factor-?1 (TGF?1) gene.	has_symptom
+6b908cd1f67610d7b62697bf4a9eae0319132b94	@PHENOTYPICFEATURE$ Presenting as a Neuromuscular Disorder - Report of a Family with @DISEASE$.	has_symptom
+0032a9c3ede5b613623282f981decd69aed941d0	We also compared diaphragmatic responses of @DISEASE$ patients with and without @PHENOTYPICFEATURE$.	has_symptom
+b99253e96610e06b7d44a277704ee50a16e59a51	Treatment for @PHENOTYPICFEATURE$ in @DISEASE$/motor neuron disease.	has_symptom
+1e6d68ea39f17a6e5b1c34972bdb2138581b19f8	Clinically, @DISEASE$ presents with fasciculations, progressive weakness, muscle atrophy, and @PHENOTYPICFEATURE$.	has_symptom
+4086763ef098f654264159619e48dad462af2816	Clinically, @DISEASE$ presents with fasciculations, progressive weakness, @PHENOTYPICFEATURE$, and spasticity.	false
+dfaa2d5862a75a5adda88072a8cac84e7c50c6cc	Clinically, ALS presents with fasciculations, progressive weakness, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7afb1caf6292337f190af2824ea65693294bc625	Bereitschaftspotential in amyotrophic lateral sclerosis (@DISEASE$): lower amplitudes in patients with hyperreflexia (@PHENOTYPICFEATURE$).	has_symptom
+0294e8a3f400ba5988ad0dbdc24e11f9ae3ccd75	Bereitschaftspotential in @DISEASE$ (ALS): lower amplitudes in patients with hyperreflexia (@PHENOTYPICFEATURE$).	has_symptom
+3a969f78b3d59eac52df6d0ac5cc8f974c5bf383	Intrathecal baclofen for intractable @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b99253e96610e06b7d44a277704ee50a16e59a51	Treatment for @PHENOTYPICFEATURE$ in @DISEASE$/motor neuron disease.	has_symptom
+b99253e96610e06b7d44a277704ee50a16e59a51	Treatment for @PHENOTYPICFEATURE$ in @DISEASE$/motor neuron disease.	has_symptom
+87e03341b8dbc1f2b34b6934665fbb3c17c81a80	Treatment of @PHENOTYPICFEATURE$ poses a major challenge in @DISEASE$ (ALS) patient management.	has_symptom
+a596eae10a94199b5b79ff108367c1f801dbc01f	Treatment of @PHENOTYPICFEATURE$ poses a major challenge in amyotrophic lateral sclerosis (@DISEASE$) patient management.	has_symptom
+cc905c241abdaa6ec3c27bcbab4b9c852ef3d6c8	Urological evaluation is indicated in @DISEASE$ patients with prominent @PHENOTYPICFEATURE$.	has_symptom
+a0161b57b5b05a27711b77fe601d74dfb9617db1	is required for the development of @PHENOTYPICFEATURE$ after spinal cord injury and during @DISEASE$ (ALS).	has_symptom
+5563bc696d6b31a365198ef51990f744f5b85d48	is required for the development of @PHENOTYPICFEATURE$ after spinal cord injury and during amyotrophic lateral sclerosis (@DISEASE$).	has_symptom
+623ef05fd4240e2b5747b7630b7e87d1497c899f	Germline mutations in the @PHENOTYPICFEATURE$ suppressor gene dyskeratosis congenit 1 (DKC1) cause the cancer prone syndrome called @DISEASE$.	has_symptom
+a1e90811143d824cee0e8aad39c630dbbd2d2251	The human DKC1 gene is causative of @DISEASE$ (X-DC), a syndrome characterized by mucocutaneous features, bone marrow failure, @PHENOTYPICFEATURE$ susceptibility, perturbation of stem cell function, and premature aging.	has_symptom
+ff58f1ae9dd3985b9b5f7798077fab099fa9d02a	In 1956, Crow reported the British case of a 54-year-old man with @DISEASE$, polyneuropathy, edema, @PHENOTYPICFEATURE$, clubbed fingers, white nails, and lymphadenopathy.	has_symptom
+18e783d753634f8426e445898a7dee5ea046b294	In 1956, Crow reported the British case of a 54-year-old man with osteosclerotic myeloma, @DISEASE$, @PHENOTYPICFEATURE$, skin hyperpigmentation, clubbed fingers, white nails, and lymphadenopathy.	false
+cd20c3d070c9ddbf0a4180bc4c1443f149874765	In 1956, Crow reported the British case of a 54-year-old man with @DISEASE$, polyneuropathy, @PHENOTYPICFEATURE$, skin hyperpigmentation, clubbed fingers, white nails, and lymphadenopathy.	false
+c43bb558365c3d67391b931f1d27bf5440c92332	In 1956, Crow reported the British case of a 54-year-old man with osteosclerotic myeloma, polyneuropathy, @PHENOTYPICFEATURE$, @DISEASE$, clubbed fingers, white nails, and lymphadenopathy.	false
+f0d71cd08a9bee0796d777f6a23cea18b1c9099c	We assume that the polyneuropathy, @PHENOTYPICFEATURE$, edema, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of @DISEASE$.	has_symptom
+6a287ddd1376e8c779ef6527eab5eb02fb0015d2	We assume that the @DISEASE$, cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+8396ae8a2b57002ccc54bf4c8417948c066a7db3	We assume that the polyneuropathy, @DISEASE$, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+4e88014963714b84737b452e69664f44f26538c5	We assume that the polyneuropathy, cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of @DISEASE$.	false
+6d29736deae7ee220bad4031f2672602de802b75	We assume that the @DISEASE$, cutaneous hyperpigmentation, edema, @PHENOTYPICFEATURE$, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+d43e70c8783d04c1a04df03ca96af640d5e70260	We assume that the polyneuropathy, cutaneous hyperpigmentation, edema, @PHENOTYPICFEATURE$, gynecomastia, and white nails are causally related to each other and are a remote effect of @DISEASE$.	false
+087e4720bfd6b77810b7384a247ebaf520c4e5f4	We assume that the polyneuropathy, @DISEASE$, edema, @PHENOTYPICFEATURE$, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+2b39d89d294b40a9cbc8ffe3ec4862f286cc846f	Polyneuropathy, @PHENOTYPICFEATURE$, edema, and hypertrichosis in localized @DISEASE$.	has_symptom
+cdf29ed341cc32f4db8b8168ed0eb4d7e14f1f77	Polyneuropathy, skin hyperpigmentation, @PHENOTYPICFEATURE$, and @DISEASE$ in localized osteosclerotic myeloma.	false
+03fba8a92db032c4750280d9000596396d43c313	@DISEASE$, skin hyperpigmentation, @PHENOTYPICFEATURE$, and hypertrichosis in localized osteosclerotic myeloma.	false
+aad74d730091df8c9a6f9a5a26101420aa257284	Polyneuropathy, skin hyperpigmentation, @PHENOTYPICFEATURE$, and hypertrichosis in localized @DISEASE$.	false
+a741641173f132ac531241ed038ade5fc162c2f2	Polyneuropathy, @DISEASE$, @PHENOTYPICFEATURE$, and hypertrichosis in localized osteosclerotic myeloma.	false
+cc49f23d52732fa79677599e156494f42ca6c2ea	[The pathology of the peripheral nervous system in two autopsy cases of @DISEASE$ associated with polyneuropathy, @PHENOTYPICFEATURE$, hypertrichosis and edema (author's transl)].	has_symptom
+963c80e56ce97d6d7c3fcbf0adaab2b22be57e41	[The pathology of the peripheral nervous system in two autopsy cases of osteosclerotic myeloma associated with @DISEASE$, skin hyperpigmentation, hypertrichosis and @PHENOTYPICFEATURE$ (author's transl)].	false
+46cae1346505702f66343e95bd296daf0d562c6c	[The pathology of the peripheral nervous system in two autopsy cases of osteosclerotic myeloma associated with polyneuropathy, skin hyperpigmentation, @DISEASE$ and @PHENOTYPICFEATURE$ (author's transl)].	false
+d753fe80a77f86a511ca5f17c0a1e3f2176899d8	[The pathology of the peripheral nervous system in two autopsy cases of osteosclerotic myeloma associated with polyneuropathy, @DISEASE$, hypertrichosis and @PHENOTYPICFEATURE$ (author's transl)].	false
+ced2d644abfdf12f5606701bae9727a9de1726c2	[The pathology of the peripheral nervous system in two autopsy cases of @DISEASE$ associated with polyneuropathy, skin hyperpigmentation, hypertrichosis and @PHENOTYPICFEATURE$ (author's transl)].	false
+5793b6b7578bebf196e61e51609f56b176bf4b30	The patient was diagnosed as having @DISEASE$ from the following data: albumin-cytologic dissociation of cerebrospinal fluid, peripheral edema, diffuse @PHENOTYPICFEATURE$, diabetic glucose intolerance, serum double gammopathy (IgM-kappa, IgG-lambda) and hepatomegaly.	has_symptom
+c6b3ca87578cea4eb2b9e2863d2820167cba64a2	@DISEASE$ (CJD) was diagnosed in two Oman Arab men, aged 50 and 75 years respectively, both with a history of rapidly developing dementia and @PHENOTYPICFEATURE$.	has_symptom
+391faaa4805cf73d5cf8a52cec7d8f1e6395b77b	We report on a patient with @DISEASE$ (CJD) who showed dystonia, periodic @PHENOTYPICFEATURE$, and periodic sharp wave complexes (PSWCs) on EEG.	has_symptom
+a7cb75866aa1f52aa2f136c1e1a8f66a6fef9ff9	Myocardial injury with systemic sclerosis (SSc) causes pericarditis and @PHENOTYPICFEATURE$, and @DISEASE$-induced muscle inflammation causes myocarditis.	has_symptom
+1f742d53ba6a4d2b8b1a33efd082b517a136261a	We have reported a 58-year-old Japanese female with @DISEASE$, primary biliary cirrhosis (PBC) and @PHENOTYPICFEATURE$.	has_symptom
+da2fa9da55e1fa0f03bcff0fdc9683f57b64f32f	In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/syndactyly, dysplasia of nails, lacrimal duct atresia, @PHENOTYPICFEATURE$, hypoplastic breasts and nipples, intensive freckling (@DISEASE$, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	has_symptom
+934251c0cbcfbc7c5729757454d25d21561a7479	In 1993, we described an autosomal-dominant @DISEASE$ in a German family characterized by ectrodactyly/@PHENOTYPICFEATURE$, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+ab0146080be8b723ec6818e7bbb5b4afe665e056	In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/@PHENOTYPICFEATURE$, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (@DISEASE$, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+0f4cecb98d5a3ed6258ee2dcb97dce1e9373ea9c	In 1993, we described an autosomal-dominant syndrome in a German family characterized by @PHENOTYPICFEATURE$/syndactyly, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (@DISEASE$, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+63b090e2c42b8d6cbae896d3ee498a075db2be68	In 1993, we described an autosomal-dominant syndrome in a German family characterized by @PHENOTYPICFEATURE$/syndactyly, dysplasia of nails, lacrimal duct atresia, @DISEASE$, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+94d11e1c3968148fbcf501c99e8ba44e90ccf9fd	In 1993, we described an autosomal-dominant @DISEASE$ in a German family characterized by @PHENOTYPICFEATURE$/syndactyly, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+cc54f1e8816eb14df5d33cee7388c019ce75dd6e	In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/@PHENOTYPICFEATURE$, dysplasia of nails, lacrimal duct atresia, @DISEASE$, hypoplastic breasts and nipples, intensive freckling (ADULT syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+ea5a08b84ce2b991efdb7b652797af11f1133d3e	@PHENOTYPICFEATURE$ complicating @DISEASE$: low-pressure edema, high-pressure edema, or mixed edema?	has_symptom
+83046d28c248c238399db53aa794f1ab75de1f62	@DISEASE$ complicating ovarian hyperstimulation syndrome: low-pressure edema, high-pressure @PHENOTYPICFEATURE$, or mixed edema?	false
+4ae612c157acab74e2d83de3f91668691cfc9d21	@DISEASE$ complicating ovarian hyperstimulation syndrome: low-pressure edema, high-pressure edema, or mixed @PHENOTYPICFEATURE$?	false
+8ab11237abae3a244320e4aac89c8ef3c224fb63	Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure @PHENOTYPICFEATURE$, or mixed edema?	false
+4301db7d52647b52fb9a1bf25d24df57f4059c2d	@DISEASE$ complicating ovarian hyperstimulation syndrome: low-pressure @PHENOTYPICFEATURE$, high-pressure edema, or mixed edema?	false
+3cee37f89ef61725c83da11955774f9c58d20587	Pulmonary edema complicating @DISEASE$: low-pressure @PHENOTYPICFEATURE$, high-pressure edema, or mixed edema?	false
+96bdc5c6ae0187003fd8947fc330010d462edf9d	Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure edema, or mixed @PHENOTYPICFEATURE$?	false
+0ae076b165b2a648a166967217b8738d0a7feca9	An autopsy case of @DISEASE$ with massive @PHENOTYPICFEATURE$ and pleural effusion.	has_symptom
+d96d4a487941532dc5c9238c4df35e729b3bbdef	RE: @PHENOTYPICFEATURE$ complicating @DISEASE$: low-pressure edema, high-pressure edema, or mixed edema?	has_symptom
+359a97184d74ec75f7b392f8aea37681923f3f7f	RE: Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure edema, or mixed @PHENOTYPICFEATURE$?	false
+15ab9b057daa54c80e9d610d070fabb504cbfe9c	RE: @DISEASE$ complicating ovarian hyperstimulation syndrome: low-pressure edema, high-pressure edema, or mixed @PHENOTYPICFEATURE$?	false
+8c7edf23f568921834f8c316821291b622b488b3	RE: @DISEASE$ complicating ovarian hyperstimulation syndrome: low-pressure edema, high-pressure @PHENOTYPICFEATURE$, or mixed edema?	false
+17a8fed6a26297e88a240fa4ed210ed54ca712da	RE: Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure @PHENOTYPICFEATURE$, or mixed edema?	false
+b2099e0c3439ea745d68dc2984ef61f83d0cd5b1	RE: Pulmonary edema complicating @DISEASE$: low-pressure @PHENOTYPICFEATURE$, high-pressure edema, or mixed edema?	false
+cb24018c8a94f1362ecbe9e36f2dfe08305c889b	RE: @DISEASE$ complicating ovarian hyperstimulation syndrome: low-pressure @PHENOTYPICFEATURE$, high-pressure edema, or mixed edema?	false
+8afc83e8d9e19b47cb5d5ac1f3364adc718dcabd	Spinocerebellar ataxia type 7 (SCA7) is a form of @DISEASE$ which is associated with pigmentary @PHENOTYPICFEATURE$.	has_symptom
+36136bab1232fae8a7f4904757e8a72fe8c0b867	Autosomal-dominant cerebellar ataxia (@DISEASE$) type II is a neurodegenerative disorder presenting with cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+52cdcf879cb346e1203a047d02efcf0cd3046010	@DISEASE$ (ADCA) type II is a neurodegenerative disorder presenting with cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+dca29228d34938878e98fc7d7332013fece5ae34	@DISEASE$ (ADCA) type II is a neurodegenerative disorder presenting with @PHENOTYPICFEATURE$ and retinal degeneration.	false
+c2be3bfbb9afb577e11719db12d23f3fbf9c434d	Autosomal-dominant cerebellar ataxia (@DISEASE$) type II is a neurodegenerative disorder presenting with @PHENOTYPICFEATURE$ and retinal degeneration.	false
+926b8befa837ddd81b2d91fe4b7fbf5d85d7a333	Autosomal-dominant cerebellar ataxia (ADCA) type II is a neurodegenerative disorder presenting with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7ea7341b44ce7c43f8aadc3ed75f3974d5495dd3	@DISEASE$ 7 is associated with @PHENOTYPICFEATURE$.	has_symptom
+0d58aa351cbbd71fc1a39677ae7a68ae94da3301	We present linkage analysis on a large Swedish five-generation family of 15 affected individuals with @DISEASE$ (ADCA) associated with @PHENOTYPICFEATURE$ and anticipation.	has_symptom
+1f1c8868e07062a330e1813bb4b72f952eb7ba1f	In @DISEASE$ type II, @PHENOTYPICFEATURE$ causes severe visual impairment.	has_symptom
+2295ee49072bb43e924af7b9f22aef24858e5530	We have cases of achondroplasia, @DISEASE$, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	has_symptom
+b628627747f413323449ee21c6636c545600d1a5	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, @DISEASE$ (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+ac795be21e481e3978472717368e2b452cc9829a	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, @DISEASE$, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+4a8b09546ada7c0a810dffe446eccf93869ba2bb	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and @DISEASE$.	false
+273f94b9b2f7bd6ed854996dd28c3fbecbab8260	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, @DISEASE$, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+46cc01a22534bcd206026e101894127683bd764a	We have cases of achondroplasia, @DISEASE$, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+dedaa0ab12527825406b284d3be38c388965ddd9	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, @DISEASE$, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+6e5562cce9952ddc8b88dcca941ba15f5db12d75	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon @DISEASE$ and hypophosphatemic rickets.	false
+28a49fb2b3d423f632dead7f6da5c3d765cdc93e	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @DISEASE$ dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+14cd5aea4612b27c32a2164054974256bf053774	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, @DISEASE$, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+0eba2b13b9fef8697db4247f4240f2f688a67bd2	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, @DISEASE$, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+606518311f4bb3d120a569dc75e85959377e4ef7	Among 8,043 neural cell embryonal tumors (6,882 @DISEASE$ and 1,161 CNS-PNETs), only one patient with medulloblastoma had DS, while 7.11 children in total and 6.08 with @PHENOTYPICFEATURE$ were expected to have DS.	has_symptom
+36234985780db167cbb58a3593b2c709b5539c6e	Among 8,043 neural cell embryonal tumors (6,882 @DISEASE$ and 1,161 CNS-PNETs), only one patient with @PHENOTYPICFEATURE$ had DS, while 7.11 children in total and 6.08 with medulloblastoma were expected to have DS.	has_symptom
+e9388bb53e14ec819d4a8d1e76a873029d5339e1	Among 8,043 neural cell @PHENOTYPICFEATURE$ (6,882 @DISEASE$ and 1,161 CNS-PNETs), only one patient with medulloblastoma had DS, while 7.11 children in total and 6.08 with medulloblastoma were expected to have DS.	false
+f302a7e80a029100a08c2578dd0c9a801914e17e	Among 8,043 neural cell @PHENOTYPICFEATURE$ (6,882 medulloblastomas and 1,161 CNS-PNETs), only one patient with @DISEASE$ had DS, while 7.11 children in total and 6.08 with medulloblastoma were expected to have DS.	false
+264968a1cac0e9cb60e8fab728099a4658d33ced	Among 8,043 neural cell @PHENOTYPICFEATURE$ (6,882 medulloblastomas and 1,161 CNS-PNETs), only one patient with medulloblastoma had DS, while 7.11 children in total and 6.08 with @DISEASE$ were expected to have DS.	false
+be9fa70af7c22868fa0800bf282cc8161c5ce5c0	@DISEASE$ (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, microcephaly, typical facial appearance with beak-like protrusion, and @PHENOTYPICFEATURE$.	has_symptom
+57eb3d6993360648952acf902f6a990da382bae3	@DISEASE$ (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, @PHENOTYPICFEATURE$, typical facial appearance with beak-like protrusion, and severe mental retardation.	false
+969bccdaa1c4ab39bc3119321cc53350e85278e3	Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal @PHENOTYPICFEATURE$, microcephaly, typical facial appearance with beak-like protrusion, and @DISEASE$.	false
+76bebe2bc47e703c57c3b048f7032bcee811bcbc	@DISEASE$ (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal @PHENOTYPICFEATURE$, microcephaly, typical facial appearance with beak-like protrusion, and severe mental retardation.	false
+3868d25aafa4ba65737e3cec38c2d95cf8f2ac3c	Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, @PHENOTYPICFEATURE$, typical facial appearance with beak-like protrusion, and @DISEASE$.	false
+ea553874aaa3b8c588779e629c73b18ca7ee6d38	Fluctuating @PHENOTYPICFEATURE$ and diplopia are typical features of @DISEASE$.	has_symptom
+4ba17261392ed5e2bede048fad55b5380ebfd85b	The initial symptoms of @DISEASE$ are usually @PHENOTYPICFEATURE$ and diplopia.	has_symptom
+703b294e0e74b73d2a2ba3f07df6ae4c2d43ac30	@PHENOTYPICFEATURE$ Repair in Ocular @DISEASE$.	has_symptom
+d392dbf4a257dd679a2461734e7fb3df524dcda7	[Two types of so-called enhanced @PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+8aeb8af7dee8a5b3cd56705126b61465f1b7b449	[Enhancement of @PHENOTYPICFEATURE$ at ocular adduction in @DISEASE$].	has_symptom
+875f7d238f4c9aa23c8090cde78e106a52ed56bc	@DISEASE$ is usually revealed by a @PHENOTYPICFEATURE$ or a diplopia.	has_symptom
+6b6c08e10cc3d4be22a2191641f5bb0c0d23f991	Fatigable @PHENOTYPICFEATURE$ and pseudoretraction caused by @DISEASE$.	has_symptom
+88c655b1f2550beebb117d669f3c44ac4b885bf9	Fluctuating @PHENOTYPICFEATURE$ is usually caused by @DISEASE$.	has_symptom
+316f619d0edaf06211adad2cd80b8179e44c01f4	Paradoxical reversal of @PHENOTYPICFEATURE$ in @DISEASE$ by edrophonium administration.	has_symptom
+01a2f45870d0f563cbb5ae2dc7e04cfea79e1406	Ocular motor dysfunction and @PHENOTYPICFEATURE$ in ocular @DISEASE$: effects of treatment.	has_symptom
+ed8cb65fbe22469930c6689f97308da3934d0fd5	Cerebral @DISEASE$, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, @PHENOTYPICFEATURE$, epilepsy, and autistic features.	has_symptom
+21e95c6ea92d62436f5d2b027b8d5a8198e76437	Cerebral @DISEASE$, attributable to mutations in the SLC6A8 gene, causes X-linked @PHENOTYPICFEATURE$, language delay, epilepsy, and autistic features.	false
+d8041e1b931f7775ca46216ca2d868d3aeda9132	Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and autistic features.	false
+ac548e1d9270464a798cf38492f37b6911c8c88d	@DISEASE$ is caused by mutations in the X-linked creatine transporter gene (SLC6A8), which leads to cerebral creatine deficiency, mental retardation, @PHENOTYPICFEATURE$, autistic-like behaviour and epilepsy.	has_symptom
+b0ac0f77e75885fa2d77b326a59a076eb8d4169d	@DISEASE$ is caused by mutations in the X-linked creatine transporter gene (SLC6A8), which leads to cerebral creatine deficiency, @PHENOTYPICFEATURE$, speech and language delay, autistic-like behaviour and epilepsy.	false
+6e55ecaca8c273726e797db4a7c97dddd9d31bf1	SLC6A8 deficiency is caused by mutations in the X-linked creatine transporter gene (SLC6A8), which leads to cerebral creatine deficiency, @PHENOTYPICFEATURE$, @DISEASE$, autistic-like behaviour and epilepsy.	false
+de690981f364736067470909cab819af73184d1d	SLC6A8 deficiency is caused by mutations in the X-linked creatine transporter gene (SLC6A8), which leads to cerebral creatine deficiency, @PHENOTYPICFEATURE$, speech and language delay, @DISEASE$-like behaviour and epilepsy.	false
+957478ce4a4e6cdb8b5b26f721630ee67093fd90	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	has_symptom
+94dc57650276c30a078a4584edafb0ee880f208a	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+9f6484ffa011fe763bf856bbbf5fc27d2cdf2aef	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @DISEASE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+ac75e68b7ae21ea9930db78a5da0d4fc0171c98d	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+35fc3a0672aa251c42006048be2b2089f487df65	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, short stature, persistent hyperplastic primary vitreous, @DISEASE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+c8a6b9af4c0a2f4a0fa90c6f6a82eafb371a1bea	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @DISEASE$, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+532550036bb9fb8ee9f18c4dfebc4492702378eb	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+edfaf372379442574cd53f6590ef0ea4b85e59de	@DISEASE$ is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+c4f54c21f9f0972ab97a8689b6f414f2bdb9da06	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, @DISEASE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+1c27b4a013dbfcf143056599a195a4300bc72dcc	We present a patient with relatively severe CMT, @PHENOTYPICFEATURE$, pyramidal involvement, and blindness due to @DISEASE$.	has_symptom
+66cb9afc9644d3fb24cfa51653c3288c08d925f6	We present a patient with relatively severe CMT, @DISEASE$, pyramidal involvement, and @PHENOTYPICFEATURE$ due to Leber's hereditary optic neuropathy.	false
+d6eb03f594a5e7be6b75d02bc6f2b8d68c449248	We present a patient with relatively severe @DISEASE$, cerebellar ataxia, pyramidal involvement, and @PHENOTYPICFEATURE$ due to Leber's hereditary optic neuropathy.	false
+11bf55a6870794a837524541e526dd8fa0163223	We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+99256d2edbe80dcf0ecf561fb6d0eb9a61b66060	Idebenone has been investigated as a treatment in several neurological disorders like Friedreich's @PHENOTYPICFEATURE$, @DISEASE$, mitochondrial encephalomyopathies and senile dementia.	has_symptom
+882a61fdcacc37837bc3cecba1842870345cf99a	The antioxidant idebenone was proven to be beneficial in Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$, two disorders caused by mitochondrial alterations.	has_symptom
+97e33e99adbdc25d21c983489a3509c7ca5e014a	Optic atrophy differentially diagnosed as spinocerebellar @PHENOTYPICFEATURE$ from @DISEASE$ by gene mutation analysis.	has_symptom
+9ece363ba36d03247e850cb734d5a1527703ec07	[Case of @DISEASE$ with mitochondrial DNA 11778 mutation exhibiting @PHENOTYPICFEATURE$, dilated cardiomyopathy and peripheral neuropathy].	has_symptom
+5f6150df78d236a69d3ace4b5f6a22805c344d3a	[Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+9070fed127ab3cdbc6e18e3fcb19c9ff760e0dac	[Case of @DISEASE$ with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and @PHENOTYPICFEATURE$].	false
+374e7e4bec20447e2557797ca8a0658c7f29f228	[Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting @DISEASE$, dilated cardiomyopathy and @PHENOTYPICFEATURE$].	false
+e4f254aed9218111ca60db71ed1b1b4e670583fa	Idebenone in Friedreich @PHENOTYPICFEATURE$ and @DISEASE$: close mechanisms, similar therapy?	has_symptom
+e16f4135fa42d5b633a9f43cfd8c125c35fea80b	We report the case of a 28-year-old woman with @DISEASE$ (LHON) associated with @PHENOTYPICFEATURE$, dilated cardiomyopathy and peripheral neuropathy.	has_symptom
+11dad62957177763a439883d2abab2f651f81d42	We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with @DISEASE$, dilated cardiomyopathy and @PHENOTYPICFEATURE$.	false
+ac5e7e4416024c2281bd5e0f5f08527ebf39289d	We report the case of a 28-year-old woman with @DISEASE$ (LHON) associated with cerebellar ataxia, dilated cardiomyopathy and @PHENOTYPICFEATURE$.	false
+023f45b52a9fb95126c01aa72c27ea29431af10a	We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with cerebellar ataxia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+8051c50a79964204a6291916998e7386344c3ef7	Hereditary @PHENOTYPICFEATURE$ with @DISEASE$ mitochondrial DNA 11778 mutation.	has_symptom
+6f83940c26c6124a347dbc898e3fd84e01d32ed7	Examples include Krabbe's leukodystrophy, olivopontocerebellar atrophy, Friedreich's @PHENOTYPICFEATURE$, Pick's disease, and @DISEASE$.	has_symptom
+f351956ad1528686c7f2875c0d833199321245ec	Deep brain stimulation (DBS) is a viable treatment alternative for patients with @DISEASE$ (PD), essential tremor (ET), dystonia, and cerebellar outflow @PHENOTYPICFEATURE$.	has_symptom
+79492096d570447837443f4d698161559b7aa992	There were three main objectives of this study: (1) to determine if there is a difference in the prevalence of dementia in patients with tremor versus non-@PHENOTYPICFEATURE$ dominant Parkinson's; (2) to determine if there is a difference of prevalence of visual hallucinations in patients with tremor and non-tremor dominant Parkinson's disease; and (3) to determine if there is a relationship between visual hallucinations and dementia in @DISEASE$ patients.	has_symptom
+704e038bfcc65089e0e20cbbe2dd6782be00c28d	There were three main objectives of this study: (1) to determine if there is a difference in the prevalence of dementia in patients with tremor versus non-tremor dominant Parkinson's; (2) to determine if there is a difference of prevalence of visual hallucinations in patients with tremor and non-@PHENOTYPICFEATURE$ dominant Parkinson's disease; and (3) to determine if there is a relationship between visual hallucinations and dementia in @DISEASE$ patients.	has_symptom
+fa2950ce770c89aac142547ce2764e6f59066142	Patients with @DISEASE$ (PD) may be akinetic/rigid, be @PHENOTYPICFEATURE$ dominant, or have comparable severity of these motor symptoms (classic).	has_symptom
+75fc51225bef315f7d2a89c146c897d7f787e050	@PHENOTYPICFEATURE$ dominant (TD), postural instability/gait difficulty (PIGD), and akinetic-rigid (AR) subtypes are widely used in classifying patients with @DISEASE$ (PD).	has_symptom
+e7cc71758a021066e6e39ead875d466c8da85151	This review will examine the current therapeutic indications of BoNT use in the following disorders related to @DISEASE$: cervical dystonia, blepharospasm and lid apraxia, focal hand dystonia, foot dystonia, laryngeal dystonia, oromandibular dystonia, camptocormia, hand and jaw @PHENOTYPICFEATURE$, sialorrhea, hyperhidrosis, dysphagia, constipation, and overactive bladder.	has_symptom
+417e06725885b17a5320b1b9adc2193c1200dde1	@PHENOTYPICFEATURE$ dominant parkinsonism (TDP) is characterized by initial prominent resting and action tremor, mild parkinsonism, unpredictable response to medication, and a better prognosis than idiopathic @DISEASE$ (PD).	has_symptom
+3eef3a4a3d6dec62596672d71a21a6e5c682fd65	[Aplasia cutis congenita and @PHENOTYPICFEATURE$: @DISEASE$].	has_symptom
+5c9ab696d842a06176284551b055b53c414bfd6f	[Epilepsy and psychomotor retardation in a child with aplasia cutis and @PHENOTYPICFEATURE$ (@DISEASE$)].	has_symptom
+17aaaed78eecfa6e4272d66d001791dbd45685a6	We report a case of a premature neonate girl with scalp and skull defects and @PHENOTYPICFEATURE$ of the feet consistent with an Adams-Oliver syndrome (@DISEASE$).	has_symptom
+4c51bde9d11b0b0e98a959f96f1482eb554c3f64	We report a case of a premature neonate girl with scalp and skull defects and @PHENOTYPICFEATURE$ of the feet consistent with an @DISEASE$ (AOS).	has_symptom
+2e0a286f6f720d94186af92919060ac03fde6930	@DISEASE$: @PHENOTYPICFEATURE$ and hypoplastic toes.	has_symptom
+4f7da9f062fea9c4c6470655541efbf651526c66	Progressive disease occurred mainly in patients having cystinosis, primary hyperoxaluria, the syndrome of hypomagnesaemia/@PHENOTYPICFEATURE$, @DISEASE$, Fanconi-Bickel syndrome, and methylmalonic aciduria.	has_symptom
+84a8d940ca18c4637f8c9a8b4a74a8e1d70c7314	Patients with @DISEASE$ are mainly overweight young women who present with raised intracranial pressure evidenced by headache, nausea, @PHENOTYPICFEATURE$ and vision disturbances.	has_symptom
+0e872d0a852efcd234a31a257308101b9af8e96d	Constitutional @PHENOTYPICFEATURE$ erroneously diagnosed as @DISEASE$.	has_symptom
+83d7dcf16631ea464b42fabe58cb7796a14d50a8	Congenital @DISEASE$ is rare disease causing hypothyroidism including cretinism, severe mental and @PHENOTYPICFEATURE$.	has_symptom
+51bfdfb6de9f27610844a92d89238c2e05676198	@PHENOTYPICFEATURE$ and mental retardation in offspring of a mother with @DISEASE$.	has_symptom
+9c515caee2418dabdbe7be1ded3ad89c3a406564	Microcephaly and @PHENOTYPICFEATURE$ in offspring of a mother with @DISEASE$.	false
+a890efe154c42c6c786fd60f1927c0f903c3890b	@DISEASE$ and @PHENOTYPICFEATURE$ in offspring of a mother with phenylketonuria.	false
+42f9d94195c9309117adf575a151e6959a8f0bad	Untreated maternal phenylketonuria (@DISEASE$) may result in nonphenylketonuric offspring with mental retardation, @PHENOTYPICFEATURE$, congenital heart disease, and low birth weight.	has_symptom
+de614ef1883da60ffac622096612f01cc919236d	Untreated @DISEASE$ (PKU) may result in nonphenylketonuric offspring with mental retardation, @PHENOTYPICFEATURE$, congenital heart disease, and low birth weight.	has_symptom
+205740188cc175ba28aa6b790f980022dd346445	Untreated maternal phenylketonuria (@DISEASE$) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, microcephaly, congenital heart disease, and low birth weight.	false
+ee84078ab28c6c503f377a7631d0a9d0f4546f63	Untreated @DISEASE$ (PKU) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, microcephaly, congenital heart disease, and low birth weight.	false
+05dffa2ef0946b3e5689e1bee09e897ca7e7584f	Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, and low birth weight.	false
+6bc55b9a507dcddd09c23185818ffbd0f714a868	Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and low birth weight.	false
+2daaf4c7a052c8732569dfbc12d12d00dde34ffc	Women with @DISEASE$ (PKU) are at high risk for having offspring with mental retardation, @PHENOTYPICFEATURE$, heart defects and low birth weight.	has_symptom
+e97af4792147bff961e717a612aa2680dc15918f	Women with phenylketonuria (@DISEASE$) are at high risk for having offspring with mental retardation, @PHENOTYPICFEATURE$, heart defects and low birth weight.	has_symptom
+dcb1fe6f5219401d7931f17e00e9bbd241d81dfe	Women with phenylketonuria (@DISEASE$) are at high risk for having offspring with @PHENOTYPICFEATURE$, microcephaly, heart defects and low birth weight.	false
+85115a62e931033a46b31292396f0dc709cae6f6	Women with phenylketonuria (PKU) are at high risk for having offspring with @PHENOTYPICFEATURE$, @DISEASE$, heart defects and low birth weight.	false
+ebad9d5a8e868b10e5f02830500287f798892a9a	Women with @DISEASE$ (PKU) are at high risk for having offspring with @PHENOTYPICFEATURE$, microcephaly, heart defects and low birth weight.	false
+b44e1cd4f6c7735980c173c27a12714ecb374cab	Women with phenylketonuria (@DISEASE$) are at high risk for having offspring with mental retardation, microcephaly, @PHENOTYPICFEATURE$ and low birth weight.	false
+a6ddce78a601fc2bca8407cd0d653ed37b46c211	Women with @DISEASE$ (PKU) are at high risk for having offspring with mental retardation, microcephaly, @PHENOTYPICFEATURE$ and low birth weight.	false
+e535b0ce8fafa0603ee04ca5b34e14b4877422bb	Women with phenylketonuria (PKU) are at high risk for having offspring with mental retardation, @DISEASE$, @PHENOTYPICFEATURE$ and low birth weight.	false
+daa62d2e9b5280010b3e5f7977c0d5d9c4730361	Young women with phenylketonuria (@DISEASE$) are at risk for bearing children with mental retardation, @PHENOTYPICFEATURE$, heart defects, and low birthweight.	has_symptom
+d48579b69e76ddcaee78d09b4f84860574a79e75	Young women with @DISEASE$ (PKU) are at risk for bearing children with mental retardation, @PHENOTYPICFEATURE$, heart defects, and low birthweight.	has_symptom
+f4869f5c9fc2da86c7610bd710ddcd89c19b75e8	Young women with phenylketonuria (@DISEASE$) are at risk for bearing children with mental retardation, microcephaly, @PHENOTYPICFEATURE$, and low birthweight.	false
+35336e2be178eca24b2cc39a5d62bc8f7920353c	Young women with phenylketonuria (@DISEASE$) are at risk for bearing children with @PHENOTYPICFEATURE$, microcephaly, heart defects, and low birthweight.	false
+9df02b60934ddb30eb2316088dc0b8e6ac962500	Young women with @DISEASE$ (PKU) are at risk for bearing children with @PHENOTYPICFEATURE$, microcephaly, heart defects, and low birthweight.	false
+90d8d5f0fd39e5861dc7f81b73f8f8fa0fce351c	Young women with @DISEASE$ (PKU) are at risk for bearing children with mental retardation, microcephaly, @PHENOTYPICFEATURE$, and low birthweight.	false
+e987d1aa910144870bc2e9d1f0c9295d8064276e	Young women with phenylketonuria (PKU) are at risk for bearing children with mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and low birthweight.	false
+f51cebfb292ad0ebefc39f0f268e48fe8d6cca21	Young women with phenylketonuria (PKU) are at risk for bearing children with @PHENOTYPICFEATURE$, @DISEASE$, heart defects, and low birthweight.	false
+6af1fb4daeae28f757bf2d609484d9adc2194262	The best-known example of this is maternal phenylketonuria (@DISEASE$), which produces @PHENOTYPICFEATURE$, mental retardation, congenital heart disease and intrauterine growth retardation.	has_symptom
+1154de7cd230e783e57d23825b943ba193c2ee12	The best-known example of this is @DISEASE$ (PKU), which produces @PHENOTYPICFEATURE$, mental retardation, congenital heart disease and intrauterine growth retardation.	has_symptom
+5a3f1ae800a1404e1099de2bb5363c57728ca28a	The best-known example of this is maternal phenylketonuria (PKU), which produces @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease and intrauterine growth retardation.	false
+e0409c259f742d63dedabed0eb4f5f03b2be48a4	The best-known example of this is @DISEASE$ (PKU), which produces microcephaly, @PHENOTYPICFEATURE$, congenital heart disease and intrauterine growth retardation.	false
+1b2a46295979e39aef6ca3d44d072555914bb845	The best-known example of this is maternal phenylketonuria (@DISEASE$), which produces microcephaly, @PHENOTYPICFEATURE$, congenital heart disease and intrauterine growth retardation.	false
+7cf5c2c044fbe695b0052aa95364ff3eabed4055	The best-known example of this is maternal phenylketonuria (PKU), which produces microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ and intrauterine growth retardation.	false
+20414e4deedfcbb94a672f2bc7a328b08ee3c41a	The best-known example of this is maternal phenylketonuria (PKU), which produces microcephaly, @PHENOTYPICFEATURE$, congenital heart disease and @DISEASE$.	false
+a376dd886f3f711225489017cfcae4a2d93516fc	Ultrasonographic failure of early detection of fetal @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a55dab86b39a654a5bb603115100119e8bd261db	Clinical features of @DISEASE$ patients include mental retardation, @PHENOTYPICFEATURE$, and seizures.	has_symptom
+5dd768c131839f6561748dc5533270c1f3eb0633	Clinical features of PKU patients include @PHENOTYPICFEATURE$, @DISEASE$, and seizures.	false
+4f1431490dd0c84cf2429a567ae3f54cba362d7f	Clinical features of @DISEASE$ patients include mental retardation, microcephaly, and @PHENOTYPICFEATURE$.	false
+e8bdf0c48f2ef20c967483566caccf0ac9a51b18	Clinical features of @DISEASE$ patients include @PHENOTYPICFEATURE$, microcephaly, and seizures.	false
+a997820e4d7226b874b413a78a98440ef77b0b21	Clinical features of PKU patients include mental retardation, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+74d3b623ac4701349549419d8f0a3b4ce87fbd65	Maternal phenylketonuria (@DISEASE$) is an embryo-fetal syndrome including @PHENOTYPICFEATURE$ and various organ (mainly cardiac) defects.	has_symptom
+0591424f6559d38cb57923e6a99408fa7048a6de	@DISEASE$ (PKU) is an embryo-fetal syndrome including @PHENOTYPICFEATURE$ and various organ (mainly cardiac) defects.	has_symptom
+10988bf313cb781f5b998f80d0604342db04c929	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	has_symptom
+18ca8fff3c92213b9e5b21e88a7565dcae584836	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	has_symptom
+0233993280beb9c776bdfba98307f46308d1349b	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+76a8e1323e81e27ea0116d978c5a29bb92f3d181	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	false
+6c7ed7db4a302d4831161e1d4a2c44cbc3b23b7e	@DISEASE$ (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+5aac731c41de85d32407c34a3c8d14ecac4b455f	Maternal phenylketonuria (PKU) is associated with significant complications such as mental retardation, @DISEASE$ and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	false
+1bd06a227e7607a8294e8de38a9cf5161e562582	Maternal phenylketonuria (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart defects in nonphenylketonuric offspring.	false
+44d08f432f2dfe52f97fc7e6efb75241c00f2909	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	false
+80ef5fb0277943692cb6399fad1e9f6780aa0aed	@DISEASE$ syndrome: congenital heart defects, @PHENOTYPICFEATURE$, and developmental outcomes.	has_symptom
+2896311f74694dcb43d18516006d6cfbc5613148	Maternal phenylketonuria @DISEASE$: @PHENOTYPICFEATURE$, microcephaly, and developmental outcomes.	false
+7b277427bdde7b67b85a1c69ecda2c0a145c367a	@DISEASE$ syndrome: @PHENOTYPICFEATURE$, microcephaly, and developmental outcomes.	false
+01e17c95b539cb14b48802819b9086b277d9ad55	Maternal phenylketonuria syndrome: @PHENOTYPICFEATURE$, @DISEASE$, and developmental outcomes.	false
+08612dbfcea0c48bc1022fa2ed864ed082ed5d29	We previously reported neonatal @PHENOTYPICFEATURE$, similar to that in @DISEASE$, associated with a t(Y;16)(q12;q24.3)	has_symptom
+9ef2f331209c8a46772f141892ab1a3181078bd8	@PHENOTYPICFEATURE$ can be present in patients affected by @DISEASE$ (TS) with the dorsum of the hands and feet most commonly affected.	has_symptom
+dd90e451729e5527b49312e490fe74caef61bcbe	@PHENOTYPICFEATURE$ and skin naevi are common in children with @DISEASE$ (TS).	has_symptom
+6082d0edba2eee7796455041a04909b7209e6067	@DISEASE$ (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital @PHENOTYPICFEATURE$, short stature, and gonadal dysgenesis.	has_symptom
+3ebae265d3d85094b7cf9a519dfce459011b13bf	Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	has_symptom
+1a27d8fcc0bf1ea3887f7a137b9eaa7b177e8eff	@DISEASE$ (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, @PHENOTYPICFEATURE$, and gonadal dysgenesis.	false
+4dd5d9e575cc609f8103b47a20723f3ea7c713f1	Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5d4c525c9ff4df177c1490476add4dd2e1b352e4	Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital @DISEASE$, @PHENOTYPICFEATURE$, and gonadal dysgenesis.	false
+f5720839763646d587e0d4d5158453e6e2bf3bc7	Sixteen selected defects (anencephaly, @PHENOTYPICFEATURE$, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, @DISEASE$ and Patau syndrome) were analyzed in detail.	has_symptom
+ee1b2b33f87b7ee71165bf565342de72b6e8b9a5	By including defects detected among elective terminations before 20 weeks, the number of cases increased by five percent or greater for nine conditions: anencephaly (29%); @PHENOTYPICFEATURE$ without anencephaly (13%); encephalocele (21%); Patau syndrome (19%); @DISEASE$ (11%); Down syndrome (6%); omphalocele (15%); gastroschisis (5%); and anophthalmia (7%).	has_symptom
+7119bc761003d3fcbcec0cf57d718d15110078a1	During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), @PHENOTYPICFEATURE$ 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left heart syndrome 0.7 - 2.3 (2.2 - 4.3), Fallot tetralogy 2.6 - 4.0 (3.2 - 4.4), omphalocele 1.0 - 1.7 (1.8 - 3.8), gastroschisis 0.2 - 1.2 (2.4 - 3.4), diaphragmatic hernia 1.3 - 2.9 (1.5 - 3.9), Down syndrome 3.3 - 6.5 (15.8 - 22.2), @DISEASE$ 0.2 - 1.0 (3.5 - 5.8) and Patau syndrome 0.2 - 1.0 (1.2 - 2.6).	has_symptom
+965d84e6dfcaafb2c26f2a348651d58d30fa3a73	@DISEASE$ is a form of mitochondrial myopathy with manifestations of @PHENOTYPICFEATURE$, stroke-like syndrome, lactic acidosis, ragged red muscle fibres and mitochondrial encephalopathy.	has_symptom
+0595b39ae1309c836e22e68e93d67256b2549f39	In the differential diagnosis one should consider the pathology of posterior fossa, diseases with recurrent vertigo, complex @PHENOTYPICFEATURE$, CADASIL and @DISEASE$, and alternative hemiplegic migraine with cerebellar symptoms and signs.	has_symptom
+ab389e9d1e513b4391238046fcb7968f3d32d098	@DISEASE$ presenting with @PHENOTYPICFEATURE$ and deafness in a Malawian boy.	has_symptom
+956eaaa991c17d43ef0c5ce0312e8dd6fa8a24b3	MELAS syndrome presenting with @DISEASE$ and @PHENOTYPICFEATURE$ in a Malawian boy.	false
+c6b99b555f4cf91993dbb7006562914d1096dfd2	@DISEASE$ presenting with seizure and @PHENOTYPICFEATURE$ in a Malawian boy.	false
+69ff95f8ef078d2340af0bd3a914e94b4aa8e490	Since @PHENOTYPICFEATURE$ are rare in patients with diabetic ketoacidosis, such seizures may indicate the existence of @DISEASE$.	has_symptom
+29dbd6d014731ad6be253e5ba7f5198db60bdf25	Since epileptic seizures are rare in patients with diabetic ketoacidosis, such @PHENOTYPICFEATURE$ may indicate the existence of @DISEASE$.	has_symptom
+07a13606f4ea3b28998794ce1858c8d2f3c498fc	Childhood @DISEASE$ presenting with @PHENOTYPICFEATURE$ and cortical blindness: a case report.	has_symptom
+06a0001700f607189ac770c5972005a186068d23	Two patients had the syndrome of @DISEASE$; one had blepharoptosis, @PHENOTYPICFEATURE$, and diabetes insipidus; and two had a nonspecific encephalomyopathic disorder.	has_symptom
+0c87d755c9787a367a819ee468174d86cdde36e0	Ketoacidosis accompanied by @PHENOTYPICFEATURE$ in a patient with diabetes mellitus and @DISEASE$ (MELAS).	has_symptom
+813a3ca4a09df080b0a23d7538b2f95724d92f73	This report illustrates a case of @DISEASE$ with hypothyroidism and psychiatric disorders, which is different from the common clinical manifestations of MELAS syndrome, such as exercise intolerance, migraine-like headaches, hearing loss and @PHENOTYPICFEATURE$ etc.	has_symptom
+3db1e25dc0dc5a1c0c42b94b07932f31af6b0814	This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders, which is different from the common clinical manifestations of @DISEASE$, such as exercise intolerance, migraine-like headaches, hearing loss and @PHENOTYPICFEATURE$ etc.	has_symptom
+0db40a38fdf801d386241224e461680168983ec0	@DISEASE$ is a mitochondrial disorder typified by recurrent stroke-like episodes, @PHENOTYPICFEATURE$, and progressive brain injury.	has_symptom
+1b5e424ddfaf01d3146b52c0d342fcbc6d0c6058	However, in @DISEASE$ @PHENOTYPICFEATURE$ may also occur in the absence of SLEs.	has_symptom
+bffdfba843dd5c8e6d9d1eba48f7cb312e4ecca5	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	has_symptom
+37177c50069a7ec57cd5c2ca35bf9b2fee6027c4	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @DISEASE$, scoliosis, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+7f635c039367ed3238212af906a6253527335c6f	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @DISEASE$, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+b00b20f4b8ceda87e8f120a017628e45599b9ac6	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+8440ef9d5626a3fde133c53e685b42bff5aeac48	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+eac1b87d83a2b69ea81027633aca2aaf3ea01367	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, @DISEASE$, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+6f66ed1ca3e134574d4d49d129f527347f377cb2	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+543a19abafd7ba6c9f25996f480739bce24dc106	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+be5244898a06c37a4e4d503b77119d0e7c140084	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+f4a46d1a06f58ddefe613f74a69a87fc03046dff	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, @DISEASE$, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+c2130874231f65ab8bb6eba14c60622558dbddb5	Recently, PUF60 (Poly-U Binding Splicing Factor 60?kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the @DISEASE$ phenotype, regarding the cardiac and @PHENOTYPICFEATURE$ phenotype.	has_symptom
+2bbdde92cbca19c0787d1bd3ffa1f7615c07267b	The @DISEASE$ is a genetic disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and a typical behavioral phenotype.	has_symptom
+9684c16e0efae64e4357e37ea07e5b7cb5e6319e	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, epilepsy, facial dysmorphism and friendly behavior.	has_symptom
+03a0a8cfef08ebafb920c875411cee941a0d8d29	The 17q21.31 microdeletion syndrome is characterized by @DISEASE$, epilepsy, @PHENOTYPICFEATURE$ and friendly behavior.	false
+21a41a893a8a138e8716d9926ac435bd5c87df8e	The @DISEASE$ is characterized by intellectual disability, epilepsy, @PHENOTYPICFEATURE$ and friendly behavior.	false
+b17fc6a01fe03dfa2724fa3bbe00e8aaa2a2aa9f	The @DISEASE$ is characterised by @PHENOTYPICFEATURE$, epilepsy, distinctive facial dysmorphism, and congenital anomalies.	has_symptom
+cbe18dda4f7ee2276eb194eebe6e4bc778a904b1	The 17q21.31 microdeletion syndrome is characterised by @DISEASE$, epilepsy, distinctive @PHENOTYPICFEATURE$, and congenital anomalies.	false
+adf2d7fe7edbb56461c7845e5615b527c1df43dc	The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive @PHENOTYPICFEATURE$, and @DISEASE$.	false
+679ad178f27c24292c777aafa25667d32bd664dd	The @DISEASE$ is characterised by intellectual disability, epilepsy, distinctive @PHENOTYPICFEATURE$, and congenital anomalies.	false
+1f892607a8041895c14edfa298d991dcdf14f1b5	From the criteria described in medical literature to define critical @DISEASE$, the patient fulfilled the following: acute renal failure, ARDS, metabolic acidosis, altered level of consciousness, macroscopic hemoglobinuria, hyperparasitism and @PHENOTYPICFEATURE$, related to a lethality rate of over 10%, depending on early treatment and available resources.	has_symptom
+88777430e31460b204dcb9d51b3c285dc911bec7	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+929daa38b2f6ed6ae15059925b674ee4b0527db9	AP1S2 is mutated in X-linked Dandy-Walker malformation with @PHENOTYPICFEATURE$, basal ganglia disease and @DISEASE$ (Pettigrew syndrome).	false
+88169ab3e4756328a9404c9d4bee2ab86bc6155b	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, @PHENOTYPICFEATURE$ and @DISEASE$ (Pettigrew syndrome).	false
+1d5ab8dab99614a1398ed84697f869e89504cd15	AP1S2 is mutated in X-linked Dandy-Walker malformation with @PHENOTYPICFEATURE$, basal ganglia disease and seizures (@DISEASE$).	false
+3b494c85964d984a980e365f3e31c591c89b89cd	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, @PHENOTYPICFEATURE$ and seizures (@DISEASE$).	false
+930193f27dfb37ce1e30213c5d505eac0802fe24	Possible new indications for donepezil in psychiatric and neurologic diseases, other than AD, include dementia with Lewy bodies, brain injury, attention deficit @PHENOTYPICFEATURE$, multiple sclerosis, Down's syndrome, delirium, mood disorders, @DISEASE$ and sleep disorders.	has_symptom
+3cd5d1bd61f517cb5c6f80f20527c0b4878e0fde	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	has_symptom
+51ece84b78f1d1fc5ca6f7596b910d3ae4fd89da	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+67ffdf86148a792ba7d61dba73423ef788e9e15f	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @DISEASE$, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+f87fd48b84a5d93729276e18ebd9493290f0142f	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and @DISEASE$.	false
+2948ebe696f5b64e9cb17604a0c998e6ab5b868b	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+82599ca94d85f509e96d663af3cf7a827059eda7	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphism, and autism spectrum disorders.	false
+3045d7fc30261126d27d3f2f79ce66f32abb21cc	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+2cc1841e1049726a30c5281b2f74cd6e87490b2a	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+2018b06e99470a2c713ddcb4bc93e29ec011eb85	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+ce0e5fd66d4ec4f2aac2732d8fbeca429c703922	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+b803a62cfc6f9cbe712118103c3fd400932521db	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, @DISEASE$, facial dysmorphism, and autism spectrum disorders.	false
+dff34f4b9cdab81ce98920c854ec9e0fa357ea40	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+70264bf16f583937d3ef796f0b8423a0832977af	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and @DISEASE$.	false
+51f7f4bd518e56ee41f8b65a69d00da1ebac976a	Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of @DISEASE$ (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich @PHENOTYPICFEATURE$.	has_symptom
+3353298af29628f82fbe4d8f60bfb8d10591693d	This paper discusses the pros and cons of introducing PGD for mitochondrial DNA (mtDNA) disorders such as NARP (Neurogenic muscle weakness, @PHENOTYPICFEATURE$, Retinis Pigmentosa)/Leigh, MELAS (@DISEASE$), private mtDNA mutations and LHON (Leber Hereditary Optic Neuropathy).	has_symptom
+6aff3950679db97db6edd1f216237dcd0a86adf4	The syndromic MID most frequently associated with laminar cortical necrosis is the @DISEASE$, but was also described in a single patient each with Leigh syndrome, mitochondrial depletion syndrome, and mitochondrial spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+894e47b94a831867f36ed703731840b807c00066	Their ages ranged from 7 to 19 years (two with Kearns-Sayre syndrome, one patient with neuronal muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, and two patients with @DISEASE$), using a retrospective study method.	has_symptom
+6d81f3209708dd8f1592a4975ef5052d7c0909f3	Cerebral insults, mitochondrial cardiopathy, relapsing ileus, cerebral angioma, @PHENOTYPICFEATURE$, and myoclonic seizures characterized the first case of an adult man with similar diseases in his family, interpreted as transitional form between @DISEASE$ (MELAS) and myoclonus epilepsy associated with ragged red fibers (MERRF).	has_symptom
+f1ec8bd7609bcf45fe0022a0887b92fde6a199de	We describe a large family with @DISEASE$ in which males and females are equally severely affected and one member with a mild @PHENOTYPICFEATURE$ reached ESRD aged 35 years.	has_symptom
+8cc41fa9ac11d85eea224a5bba981937af151aee	We report the successful management of a 4-year-old male child with @DISEASE$, @PHENOTYPICFEATURE$, spina bifida, atrial septal defect, and dextrocardia for tibialis anterior lengthening under subarachnoid block.	has_symptom
+662cf5b83c7b21f8839b8c10756ba65f5e7d8ca6	We report the successful management of a 4-year-old male child with fetal hydantoin syndrome, @DISEASE$, @PHENOTYPICFEATURE$, atrial septal defect, and dextrocardia for tibialis anterior lengthening under subarachnoid block.	false
+9c214c773358ea8f2fddaf7401b52fe66452025c	We report the successful management of a 4-year-old male child with fetal hydantoin syndrome, cleft palate, @PHENOTYPICFEATURE$, atrial septal defect, and @DISEASE$ for tibialis anterior lengthening under subarachnoid block.	false
+5d5f558b9733795f0188d6fba0654de58f26c393	We report the successful management of a 4-year-old male child with @DISEASE$, cleft palate, @PHENOTYPICFEATURE$, atrial septal defect, and dextrocardia for tibialis anterior lengthening under subarachnoid block.	false
+490cad9cdbac5726c613d0af0e343e7b9b192ada	@DISEASE$--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and @PHENOTYPICFEATURE$: heterogeneity of proximal myotonic syndromes?	has_symptom
+dfa6b6737678da0d1478cfd5ce718a3fae382999	Proximal myotonic dystrophy--a family with autosomal dominant @PHENOTYPICFEATURE$, cataracts, @DISEASE$ and hypogonadism: heterogeneity of proximal myotonic syndromes?	false
+aa1ad5cf2b0906db4f21eeac5098dd019db2ac06	Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, @PHENOTYPICFEATURE$, @DISEASE$ and hypogonadism: heterogeneity of proximal myotonic syndromes?	false
+8a8dbde11709df3e8aa4fead7ccddc0c83fe02d9	@DISEASE$--a family with autosomal dominant @PHENOTYPICFEATURE$, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?	false
+acec8bc15fe159e4e6f3f458543578780a088f28	@DISEASE$--a family with autosomal dominant muscular dystrophy, @PHENOTYPICFEATURE$, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?	false
+6b7b5015d146a5649fdea4ec4d0dcbe0161a9e81	Proximal myotonic dystrophy--a family with autosomal dominant @PHENOTYPICFEATURE$, cataracts, hearing loss and @DISEASE$: heterogeneity of proximal myotonic syndromes?	false
+82f86364a4f893b06baabbf1478dbcc6dd490d72	Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, @PHENOTYPICFEATURE$, hearing loss and @DISEASE$: heterogeneity of proximal myotonic syndromes?	false
+5eca93f67411e31e7ca1245d67dd9803a21b63ca	Differential diagnosis is discussed with @DISEASE$ and benign @PHENOTYPICFEATURE$ epilepsy in infancy and with non-epileptic syndromes.	has_symptom
+c6a6c7106f4812fa9b1a160318a0f69d2f971380	These epileptic encephalopathies include Ohtahara syndrome, early @PHENOTYPICFEATURE$ epileptic encephalopathy, @DISEASE$, Dravet syndrome, and malignant migrating epilepsy in infancy.	has_symptom
+6ae485069e4c73c994e69df7ed1946be676ec0c0	@DISEASE$, @PHENOTYPICFEATURE$-astatic petit mal, absence epilepsy.	has_symptom
+4dba6a4f740a4617b87a18a5b7c625693aa72796	Widely accepted syndromes in childhood include the @DISEASE$ and Lennox-Gastaut syndromes, several @PHENOTYPICFEATURE$ syndromes, febrile seizures of infancy, absence epilepsy, benign partial epilepsy, and juvenile myoclonic epilepsy.	has_symptom
+07e5949b94eb41c1fc628a276d8aa28ceaaf2327	Widely accepted syndromes in childhood include the @DISEASE$ and Lennox-Gastaut syndromes, several myoclonic syndromes, febrile seizures of infancy, absence epilepsy, benign partial epilepsy, and juvenile @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+c44999718aa1191ccf4c1380fa410ee59293db04	Widely accepted syndromes in childhood include the @DISEASE$ and Lennox-Gastaut syndromes, several myoclonic syndromes, @PHENOTYPICFEATURE$ of infancy, absence epilepsy, benign partial epilepsy, and juvenile myoclonic epilepsy.	false
+40490bfffaa2f305ba2433b15f8dfdb80db05f20	Widely accepted syndromes in childhood include the West syndrome and Lennox-Gastaut syndromes, several myoclonic syndromes, @PHENOTYPICFEATURE$ of infancy, absence @DISEASE$, benign partial epilepsy, and juvenile myoclonic epilepsy.	false
+d55cf4ee6b3aa208d2b07d848db093088e038af8	Widely accepted syndromes in childhood include the West syndrome and Lennox-Gastaut syndromes, several myoclonic syndromes, @PHENOTYPICFEATURE$ of infancy, absence epilepsy, benign @DISEASE$, and juvenile myoclonic epilepsy.	false
+beff9657d57adec54780a91ef724cb479612f51c	Widely accepted syndromes in childhood include the West syndrome and Lennox-Gastaut syndromes, several myoclonic syndromes, @PHENOTYPICFEATURE$ of infancy, absence epilepsy, benign partial epilepsy, and juvenile @DISEASE$ epilepsy.	false
+966ef810bfae882651614d90caeb8ef5df450944	Widely accepted syndromes in childhood include the West syndrome and Lennox-Gastaut syndromes, several @DISEASE$ syndromes, @PHENOTYPICFEATURE$ of infancy, absence epilepsy, benign partial epilepsy, and juvenile myoclonic epilepsy.	false
+a251630ad4cb686098d7f3a5979b8f2293174f84	In infants, it is either @PHENOTYPICFEATURE$ epilepsy of nonprogressive encephalopathy or @DISEASE$.	has_symptom
+250fa3d389ca70339c61123b11f20a5b1df5ee35	This is the first case report of a patient with @DISEASE$ whose coexisting epileptic negative @PHENOTYPICFEATURE$ was confirmed by a silent electromyogram pattern.	has_symptom
+19ac9d17f67560dbc62311ede0b7daac33623b94	These catastrophic epileptic syndromes include epileptic encephalopathy with diffuse slow spike waves (Lennox-Gastaut syndrome), @DISEASE$, progressive @PHENOTYPICFEATURE$ epilepsies, and electrical status epilepticus during sleep.	has_symptom
+6f0c0014dddf7c4b6b57fbd545d568373f1b7416	Early treatment of infantile spasms (@DISEASE$) and of @PHENOTYPICFEATURE$ encephalopathy.	has_symptom
+947806e1e1f4e1df66ed45f34bcf2cd20f911e0e	Early treatment of infantile spasms (@DISEASE$) and of myoclonic @PHENOTYPICFEATURE$.	false
+1189c49603efd86eb53a462e07104f833a7b1b01	Early treatment of infantile spasms (West syndrome) and of @DISEASE$ @PHENOTYPICFEATURE$.	false
+9ef7960d4a453e5f5573e2776d78420b538656fa	Allopurinol was not as effective in patients with Lennox syndrome or @DISEASE$, or in severe @PHENOTYPICFEATURE$ epilepsy in infants.	has_symptom
+2f454b8438215b7e0659691ef9e9428ddba2b33c	The epileptic encephalopathies of infancy and childhood include @DISEASE$, Lennox-Gastaut syndrome, severe @PHENOTYPICFEATURE$ epilepsy of early childhood and related syndromes.	has_symptom
+9eb2fc85d85285a4625bc1bebfbf9e5f27a56630	@DISEASE$ (@PHENOTYPICFEATURE$, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.	has_symptom
+898558137318b5b608e067092e332637e2f37671	@PHENOTYPICFEATURE$, ectodermal dysplasia, cleft lip, and palate (@DISEASE$).	has_symptom
+771304918e4db91a9601c23d5fa18a9b460e3c2a	We present a 44-month-old girl who had features of @DISEASE$ but without the classic @PHENOTYPICFEATURE$.	has_symptom
+6215ac2412748a013dc153105b9c2757732d16ce	@DISEASE$ (@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting): a clinical case report.	has_symptom
+f59460f065c617d0eb324fb5302b53352ced2cee	[Association of ectodermal dysplasia, @PHENOTYPICFEATURE$ and cleft lip-palate: the @DISEASE$].	has_symptom
+eb9ead24eb5e14893b08e05f678e29605d691e88	One woman with isolated @PHENOTYPICFEATURE$ has a daughter with the @DISEASE$.	has_symptom
+458d24813080bf16a12ceb16faff6833f6d6f338	[@DISEASE$: @PHENOTYPICFEATURE$, ectodermal dysplasia and cleft lip-palate (author's transl)].	has_symptom
+b1ba113aafe6351d82e53179642264bc0be68abc	[The @DISEASE$ (@PHENOTYPICFEATURE$, ectodermal dysplasia, cleft lip and palate)].	has_symptom
+67b83478f34bd9b947fc568ff12891166221a48e	@PHENOTYPICFEATURE$, ectodermal dysplasia and cleft palate (@DISEASE$).	has_symptom
+7c5db8eace77f78037d887c020b9d4f78cfa92ca	Ectrodactyly, ectodermal dysplasia and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+66dab00634b6b03c62f421bc6a214b5364f20b33	Ectrodactyly, @DISEASE$ and @PHENOTYPICFEATURE$ (EEC syndrome).	false
+19a760ea8398b1c585ae30acfd1b57411b93bb55	@DISEASE$, ectodermal dysplasia and @PHENOTYPICFEATURE$ (EEC syndrome).	false
+b0b18e9ca927c581f5b3bdc41713955c6e3c98dc	One of the main features of the @DISEASE$, @PHENOTYPICFEATURE$, was missing in five of the patients.	has_symptom
+3deb47989382377ab1a216fe954cd8e29f4bdd09	@DISEASE$ (PPCM) is an idiopathic cardiomyopathy presenting with heart failure (HF) secondary to @PHENOTYPICFEATURE$ towards the end of pregnancy or in the months following delivery, where no other cause of HF is found.	has_symptom
+e69552e2db324c24480137bfb4f1320e07ae13b5	@DISEASE$ (PPCM) is an idiopathic cardiomyopathy presenting with @PHENOTYPICFEATURE$ (HF) secondary to left ventricular systolic dysfunction towards the end of pregnancy or in the months following delivery, where no other cause of HF is found.	false
+29b696f240366f562bcae539e93b71fa1c05b9d7	Peripartum cardiomyopathy (PPCM) is an idiopathic cardiomyopathy presenting with @PHENOTYPICFEATURE$ (HF) secondary to left ventricular systolic dysfunction towards the end of pregnancy or in the months following delivery, where no other cause of @DISEASE$ is found.	false
+59fdc7fe3c3c9afd26c593f006a85b110cc5ef89	Peripartum cardiomyopathy (PPCM) is an @DISEASE$ presenting with @PHENOTYPICFEATURE$ (HF) secondary to left ventricular systolic dysfunction towards the end of pregnancy or in the months following delivery, where no other cause of HF is found.	false
+81099846c6b4c5f94791c802e4883acbdeb92f0f	Peripartum cardiomyopathy (PPCM) is an idiopathic cardiomyopathy presenting with @PHENOTYPICFEATURE$ (HF) secondary to @DISEASE$ towards the end of pregnancy or in the months following delivery, where no other cause of HF is found.	false
+1d5ab8dab99614a1398ed84697f869e89504cd15	AP1S2 is mutated in X-linked Dandy-Walker malformation with @PHENOTYPICFEATURE$, basal ganglia disease and seizures (@DISEASE$).	has_symptom
+a2d4cfa28ab38ca52a2a148aefd2e45659b1a69f	AP1S2 is mutated in X-linked Dandy-Walker malformation with @DISEASE$, @PHENOTYPICFEATURE$ and seizures (Pettigrew syndrome).	false
+88777430e31460b204dcb9d51b3c285dc911bec7	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+92f42394480a913599f161e5211c6745ab8e0c7d	AP1S2 is mutated in X-linked Dandy-Walker malformation with @DISEASE$, basal ganglia disease and @PHENOTYPICFEATURE$ (Pettigrew syndrome).	false
+3b494c85964d984a980e365f3e31c591c89b89cd	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, @PHENOTYPICFEATURE$ and seizures (@DISEASE$).	false
+88349795d24ebef733c3ddee8025e318ad1232ac	MRXS5 or @DISEASE$ was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, @PHENOTYPICFEATURE$, Dandy-Walker malformation and inconstant choreoathetosis.	has_symptom
+1b7da0f0590751d8a20493b679075d3ef179ed69	MRXS5 or @DISEASE$ was described 20 years ago in a four generation family including nine affected individuals presenting with @PHENOTYPICFEATURE$, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis.	false
+98a13c2d717c457ba4bd675c91cab9603c445535	MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation and inconstant choreoathetosis.	false
+bb332ccabeb9cfa80e3c4b2d39de6ac2a970dc64	@DISEASE$ (PGS) is a rare X-linked @PHENOTYPICFEATURE$ that caused by AP1S2 mutation.	has_symptom
+dfd51e1fb4a8acd31c2d0183e283c12ad55d91ca	@DISEASE$ (DM1) is a progressive multisystemic disease with common @PHENOTYPICFEATURE$ and potential brain involvement in addition to the cardinal muscular and systemic symptoms.	has_symptom
+e71280fec880c8f3f204f64dc3e1c1bf412246a6	@PHENOTYPICFEATURE$ Associated with Sleep Apnea in @DISEASE$.	has_symptom
+8d772ab5280a7b66d6482f51a84db2ae9ded1c9d	@PHENOTYPICFEATURE$ in @DISEASE$ is associated with white matter damage.	has_symptom
+0b007b39edc3fce0c2bf2227caa3f7777fa0c0b0	@DISEASE$ is a multisystem disorder with myotonia, muscle weakness, cataracts, endocrine dysfunction, and @PHENOTYPICFEATURE$.	has_symptom
+72848d0b77a3485d35d37854a059a6b8d9e80c62	Myotonic dystrophy type 1 is a multisystem disorder with myotonia, @PHENOTYPICFEATURE$, cataracts, endocrine dysfunction, and @DISEASE$.	false
+3eac9909c463949cd7dded1db7055250c94fa947	Myotonic dystrophy type 1 is a multisystem disorder with myotonia, muscle weakness, @PHENOTYPICFEATURE$, endocrine dysfunction, and @DISEASE$.	false
+0ee6064bde2ca751e84e65a2ad669cc4118e1cbe	Myotonic dystrophy type 1 is a @DISEASE$ with myotonia, @PHENOTYPICFEATURE$, cataracts, endocrine dysfunction, and intellectual impairment.	false
+308b78635303e35f745036103f700c86d7e25572	@DISEASE$ is a multisystem disorder with myotonia, muscle weakness, @PHENOTYPICFEATURE$, endocrine dysfunction, and intellectual impairment.	false
+c31635b32b2e61d04374764dfe80548dbd9369ad	@DISEASE$ is a multisystem disorder with myotonia, @PHENOTYPICFEATURE$, cataracts, endocrine dysfunction, and intellectual impairment.	false
+90761c0d2734bda695177e5c7f8a0c5d2fba8d77	Myotonic dystrophy type 1 is a @DISEASE$ with myotonia, muscle weakness, @PHENOTYPICFEATURE$, endocrine dysfunction, and intellectual impairment.	false
+91bf5989e53e2f0bbea540bf26042327ab6443a8	@PHENOTYPICFEATURE$ and quality of life in patients with @DISEASE$.	has_symptom
+a7b83e6b0bf3335ad19517ab5ff6fd31b988d55a	A previous study in proximal myotonic myopathy (PROMM/DM-2) and @DISEASE$ (DM-1) using brain positron emission tomography demonstrated a reduced cerebral blood flow in the frontal and temporal regions associated with @PHENOTYPICFEATURE$.	has_symptom
+9463588aa5d5a1a28d3d332c284469c26412d53f	@PHENOTYPICFEATURE$ in @DISEASE$ (DM1): a longitudinal follow-up study.	has_symptom
+7ce05c7005877ddb9bb5fec9a4a8029d00c49d64	To determine regions of reduced brain metabolism in patients with @DISEASE$ (DM1) and type 2 (DM2) using 18F-fluoro-2-deoxy-d-glucose positron emission tomography (FDG-PET), and to analyse their potential association with @PHENOTYPICFEATURE$.	has_symptom
+b38708ae429db5689d7373d3e784aba077cfd574	@PHENOTYPICFEATURE$ and CTG repeat expansion size in classical @DISEASE$ (DM1).	has_symptom
+dd30b6c6566916a85baf39c3dd848250d0c101c5	Regional brain atrophy in gray and white matter is associated with @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+edbceb5dac401f6e392187c23d51dd217fc59cb8	Regional @PHENOTYPICFEATURE$ in gray and white matter is associated with @DISEASE$ in Myotonic Dystrophy type 1.	false
+dbd33c8807ff7e96ab39ab8deaaae48d950416db	Regional @PHENOTYPICFEATURE$ in gray and white matter is associated with cognitive impairment in @DISEASE$.	false
+929019c15836f067c9ff5cce1c8d467210a52c26	@DISEASE$ is extremely rare and is characterized by the triad of spontaneous periodic hypothermia, @PHENOTYPICFEATURE$ and agenesis of the corpus callosum, resulting in neurological and psychological disorders.	has_symptom
+b7ffa3db96782af9e9fbda3774b69f98859b60d1	Shapiro syndrome is extremely rare and is characterized by the triad of @DISEASE$, @PHENOTYPICFEATURE$ and agenesis of the corpus callosum, resulting in neurological and psychological disorders.	has_symptom
+346a631e5d397de2c29e3f00f29654d75113241e	@DISEASE$ is extremely rare and is characterized by the triad of spontaneous periodic hypothermia, hyperhidrosis and @PHENOTYPICFEATURE$, resulting in neurological and psychological disorders.	false
+4839ea2347a64bef788b678dd53921887bc2e0a5	Shapiro syndrome is extremely rare and is characterized by the triad of spontaneous periodic hypothermia, @DISEASE$ and @PHENOTYPICFEATURE$, resulting in neurological and psychological disorders.	false
+93c0779fd3135892aadf33ce0e4e8270eae0cf7e	Shapiro syndrome is extremely rare and is characterized by the triad of @DISEASE$, hyperhidrosis and @PHENOTYPICFEATURE$, resulting in neurological and psychological disorders.	false
+60b5d8f64db289178841c018df7721826e65018c	Hypermelatoninemia should be considered in patients with @DISEASE$ and @PHENOTYPICFEATURE$, and also in patients with Shapiro's syndrome.	has_symptom
+3ef894c2237b99825aaa92d06fe5644a18c6cfc5	@DISEASE$ is a rare entity, comprising a triad of recurrent hypothermia, @PHENOTYPICFEATURE$ and congenital agenesis of the corpus callosum.	has_symptom
+c32aeebb5ea8d9f915f44d5b795ded8096093f9c	Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, @DISEASE$ and congenital @PHENOTYPICFEATURE$.	false
+994cc99fb9b8976c82c3f7abd819c12e1bc26e3e	@DISEASE$ is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital @PHENOTYPICFEATURE$.	false
+d0c8dfd6d6290e8fa75dd75e8c04b8b5c2ed7b70	Subtotal corpus callosum agenesis with recurrent @PHENOTYPICFEATURE$-hypothermia (@DISEASE$).	has_symptom
+5561238516df4950b3d73aece84746dc35792b49	Subtotal @PHENOTYPICFEATURE$ with recurrent hyperhidrosis-hypothermia (@DISEASE$).	false
+da6a19f366b43630e95f642e13d1cac57b13a18e	Subtotal @PHENOTYPICFEATURE$ with recurrent @DISEASE$-hypothermia (Shapiro syndrome).	false
+56257acb55a46870d520a73eea1597f75a708a2b	reported a case of @DISEASE$ and @PHENOTYPICFEATURE$ without corpus callosum agenesis, suggesting that the periodic episodes of hypothermia might be of epileptiform origin.	has_symptom
+3e04b82733eb5395ccaf8bdabf20453852e3f699	reported a case of @DISEASE$ and hyperhidrosis without @PHENOTYPICFEATURE$, suggesting that the periodic episodes of hypothermia might be of epileptiform origin.	false
+6cea3cbe3f7456dd81a0d37fa5dae8052c79dcd8	reported a case of spontaneous periodic hypothermia and @DISEASE$ without @PHENOTYPICFEATURE$, suggesting that the periodic episodes of hypothermia might be of epileptiform origin.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+51f38aaceed511148a711cefb4b171c5faf3554b	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, syndactyly, clinodactyly, @PHENOTYPICFEATURE$, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	has_symptom
+a3272491445b90bcbd80655cc029e2c30f5e0a78	Some mutation carriers exhibited dysmorphic features, including @PHENOTYPICFEATURE$, small mandible, syndactyly, clinodactyly, cleft palate, and @DISEASE$, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+78ae1bab3b3bf60a40122af40305dc139cebb928	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, and @DISEASE$, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+3086c21f36d4e7b58aced401838a51f20ef34de4	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, @PHENOTYPICFEATURE$, clinodactyly, @DISEASE$, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+092a53abb45e3e4ed94d7ad9c7ae484aef604309	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	false
+5834ac81cb092634066540f484613813542741e1	Some mutation carriers exhibited dysmorphic features, including @PHENOTYPICFEATURE$, small mandible, syndactyly, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	false
+b3ddc26e1a0bccebe75128e331009c44c76d9c9f	Some mutation carriers exhibited dysmorphic features, including @PHENOTYPICFEATURE$, small mandible, syndactyly, clinodactyly, @DISEASE$, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+722cddb9c96b9d3334f34bbdb7bf7b48ff85cb29	Congenital insensitivity to pain with anhidrosis (@DISEASE$) syndrome is a neuropathy characterized by insensitivity to pain, impaired thermoregulation, anhidrosis, and @PHENOTYPICFEATURE$.	has_symptom
+5be87ac5e9d05d5034a0ca20932e49948fee43e5	Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive @DISEASE$, or autosomal (de novo) dominant @PHENOTYPICFEATURE$ type 9.	has_symptom
+5e4f3a9969fbdbef683cb714776045f2425f7580	Patients with @DISEASE$ also show @PHENOTYPICFEATURE$ and characteristic behaviors and are probably neuron-deficient within the brain.	has_symptom
+bef43c53005e9ca1a0e6546f0dd36500b9aeb7ab	@DISEASE$ with cataracts, @PHENOTYPICFEATURE$, and skin lesions: five cases.	has_symptom
+c96de17447dc7653169def1a7d58021dae0f86d9	Hereditary sensory and autonomic neuropathy with @PHENOTYPICFEATURE$, @DISEASE$, and skin lesions: five cases.	false
+817cd2605e41bcbebc0dbdd209156c38c13c19f1	@DISEASE$ with @PHENOTYPICFEATURE$, mental retardation, and skin lesions: five cases.	false
+9dab02a875e230df0289cc722f36107de9ed22f6	Among them, a relatively large proportion of patients with @DISEASE$ type IV, which is accompanied by anhidrosis and @PHENOTYPICFEATURE$, are reported from Israel and Japan.	has_symptom
+4e03c688f02c5b3e2a93f003f6756a5c73f407bf	Congenital insensitivity to pain and Anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive neuropathy of the group of @DISEASE$ (HSAN) characterized by insensitivity to pain, anhidrosis, and @PHENOTYPICFEATURE$.	has_symptom
+49e07fa452699137aeafe7c42283db57f0dc8225	Congenital insensitivity to pain with anhidrosis (CIPA) is a rare @DISEASE$, comprising congenital insensitivity to pain, anhidrosis, and @PHENOTYPICFEATURE$.	has_symptom
+1a70b7b69ecc4f7f81b7d0597610bbec837a4ce8	We report on a 20-month-old girl with @DISEASE$, left cerebral atrophy, tongue nodules, oral frenula, @PHENOTYPICFEATURE$, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty.	has_symptom
+d168155c27e9e68175174460dc90ee223737d6d0	We report on a 20-month-old girl with @DISEASE$, left @PHENOTYPICFEATURE$, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty.	false
+1b6bd7e5a1e0b86297f1116d03faab5b2645abb9	We report on a 20-month-old girl with hypothalamic hamartoma, left @PHENOTYPICFEATURE$, tongue nodules, oral frenula, @DISEASE$, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty.	false
+1b47358fb6dd102e3bc3b789c41c02eb2456a839	@DISEASE$, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are currently considered three distinct skeletal dysplasias with some shared clinical features, including @PHENOTYPICFEATURE$, platyspondyly, and progressive scoliosis.	has_symptom
+e7eca47a388e06e7881e9b7d2a42409c7faffaa2	The present observations also suggest that @DISEASE$ should be considered as a possible diagnosis in microcephalic neonates, who present with @PHENOTYPICFEATURE$ at or before birth.	has_symptom
+061014af646deb3b5726a71c421d92cd66eeb5a1	@DISEASE$ (CD-/-) mice have been shown to manifest @PHENOTYPICFEATURE$ and become blind near the terminal stage [approximately postnatal day (P) 26].	has_symptom
+bd9a0166990643e5b8635dc88001ae857a70a589	In the present study, we have attempted to elucidate the mechanism underlying the @PHENOTYPICFEATURE$ of @DISEASE$ (CD-/-) mice that show a novel type of lysosomal storage disease with a phenotype resembling late infantile NCL.	has_symptom
+beb4e4d093e6aeebbd8e7227e1d72018813e3ed9	Extensive evaluation is often necessary for the child presenting with macroscopic plus microscopic hematuria including nonglomerular and glomerular etiologies, while children with only isolated microscopic hematuria can generally be followed after baseline evaluation to rule out infection, hypercalciuria, familial @PHENOTYPICFEATURE$, sickle cell disease, post-streptococcal glomerulonephritis (GN), and structural abnormalities (cysts, stones, obstruction, @DISEASE$).	has_symptom
+d332b852368c4599fb4a1f69213474a2293cfc85	Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), @DISEASE$ (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or @PHENOTYPICFEATURE$; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1).	has_symptom
+c736e4e21e8d9dedf3da30f5c3d539e93bbe75c0	[The @DISEASE$ with @PHENOTYPICFEATURE$].	has_symptom
+4db454f065a1cec825d053028d49512dd5670e18	Epigenetic factors are important determinants of @PHENOTYPICFEATURE$ in @DISEASE$ in these brothers.	has_symptom
+798a9d18ca15824419832f96ccf1855a28be9550	Evidence against an X-linked @PHENOTYPICFEATURE$ susceptibility locus in @DISEASE$.	has_symptom
+50548d7f934c7e2b1097c409110b0a14727c8f6a	@DISEASE$ (LHON) causes @PHENOTYPICFEATURE$, predominantly in healthy young men.	has_symptom
+2f8d888498fbe2901125dbbc5864915be31bfcbf	In most cases of @DISEASE$ (LHON) the only clinical manifestation is @PHENOTYPICFEATURE$.	has_symptom
+0e0dbabffb8696c8a4c8feae28c876c28839413a	While @DISEASE$ typically causes bilateral visual loss in the second through fourth decades, we highlight @PHENOTYPICFEATURE$ from Leber hereditary optic neuropathy in older patients to characterize the clinical features of this cohort.	has_symptom
+c3bef921d8d64c4475d7303af9c271c2cf782cab	While Leber hereditary optic neuropathy typically causes bilateral visual loss in the second through fourth decades, we highlight @PHENOTYPICFEATURE$ from @DISEASE$ in older patients to characterize the clinical features of this cohort.	has_symptom
+b92cf41dbaf27e39fc6f8a5df8c3c34b2ed48e3b	While @DISEASE$ typically causes bilateral @PHENOTYPICFEATURE$ in the second through fourth decades, we highlight visual loss from Leber hereditary optic neuropathy in older patients to characterize the clinical features of this cohort.	has_symptom
+2413dccd63578293e218fb81071e2ac3f8a42027	While Leber hereditary optic neuropathy typically causes bilateral @PHENOTYPICFEATURE$ in the second through fourth decades, we highlight visual loss from @DISEASE$ in older patients to characterize the clinical features of this cohort.	has_symptom
+6a123fbdb59c0fdd2919e420168b02936f1e42ff	Recurrent @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0467b7278d0f9287d7395e6d7f240ce7f2c7e242	[Recurrent @PHENOTYPICFEATURE$ in @DISEASE$: a case report].	has_symptom
+589c1c398355e2c9ea8e9454ab2ba296afee719f	A pedigree of @DISEASE$ with @PHENOTYPICFEATURE$ in childhood, primarily in girls.	has_symptom
+7e132bd05b145326eaedca64876cc19baed13fe2	[Rapid onset of visual recovery following acute @PHENOTYPICFEATURE$ due to @DISEASE$].	has_symptom
+1822c7d20116af6a3ab2b749737cb880e5251c7a	Raised intraocular pressure as a potential risk factor for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+61bd5478a64a5a185c9282bd6adc55a9deb88997	@DISEASE$ causes juvenile-onset @PHENOTYPICFEATURE$ and distinctive muscle pathology.	has_symptom
+98b3db34d079957af5a2a5ee1252faf58d5c716e	Common external and internal features which characterize the @DISEASE$ syndrome are low-set ears, @PHENOTYPICFEATURE$, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals.	has_symptom
+84aadc64d984d228eaca1424a1d4632b858713e4	Common external and internal features which characterize the triploidy syndrome are low-set ears, @DISEASE$, colobomata, @PHENOTYPICFEATURE$, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals.	false
+a0c0084d7f17ca12b15d06d347c186b27e76ab3a	Common external and internal features which characterize the @DISEASE$ syndrome are low-set ears, hypertelorism, colobomata, @PHENOTYPICFEATURE$, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals.	false
+c520c990f0e94d39f5e092dad96dae87d2d84dcd	Common external and internal features which characterize the triploidy @DISEASE$ are low-set ears, hypertelorism, colobomata, @PHENOTYPICFEATURE$, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals.	false
+a258dd74a3d3fafb933ba59b54322e0f46fadc6f	Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, @PHENOTYPICFEATURE$, simian creases, microphallus, undescended testes, scrotal aplasia, @DISEASE$ heart and hypoplasia of kidneys and adrenals.	false
+e3835813fe15e4b49e90add3d9cdf3e23eecbac6	The @DISEASE$ syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; @PHENOTYPICFEATURE$; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	has_symptom
+bde83708cda6b58b258282fde985b2ce9b407861	The @DISEASE$ syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; @PHENOTYPICFEATURE$ and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+978cfc061770662f3f9cdcbbd6df38d4f297faa0	The triploidy syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; @PHENOTYPICFEATURE$ and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; @DISEASE$ and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+1980068e53b1fa14431fe4fb3f66e84b8151a104	The triploidy syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; @PHENOTYPICFEATURE$ and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; @DISEASE$; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+c4c1ede06f005e7b6a83915aeba19f9e57e909c5	The triploidy syndrome is characterized by general dysmaturity and the following features: @PHENOTYPICFEATURE$; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; @DISEASE$; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+1663cfaf7c3121d02b02b1ed862a004bd44b0a0f	The triploidy syndrome is characterized by general dysmaturity and the following features: @PHENOTYPICFEATURE$; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; @DISEASE$ and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+40eb21f1b293035242a413ab2239ca3bc7ec728e	The @DISEASE$ syndrome is characterized by general dysmaturity and the following features: @PHENOTYPICFEATURE$; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+35786bc93d62deafb1c86dd0fa9b3c9d3bcd8251	The triploidy @DISEASE$ is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; @PHENOTYPICFEATURE$ and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+72174b9eb15ac2398489c9af15657269a983011e	The triploidy syndrome is characterized by general dysmaturity and the following features: @PHENOTYPICFEATURE$; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; @DISEASE$; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+98c4172a9e29c1b531cc4f3ae2f9b78faca04cfa	The triploidy @DISEASE$ is characterized by general dysmaturity and the following features: @PHENOTYPICFEATURE$; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+a645ec523f4506d620f4e6cb8fb4295f27e8061d	The triploidy syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; @DISEASE$; @PHENOTYPICFEATURE$ and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+fbc5738ea9f64b367d944018cc55ad7799413dcd	Moreover, deletions of delta-catenin correlate with the severity of mental retardation in @DISEASE$ (CDCS), which may account for 1% of all @PHENOTYPICFEATURE$ individuals.	has_symptom
+c0505e24e7c67c8b0e586c166876c095a3ee2f40	Moreover, deletions of delta-catenin correlate with the severity of @PHENOTYPICFEATURE$ in @DISEASE$ (CDCS), which may account for 1% of all mentally retarded individuals.	has_symptom
+e457d14227f2532d2cc4f4e295cc15831db1171a	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, facial dysmorphism, microcephaly, and @PHENOTYPICFEATURE$.	has_symptom
+8c25e3e9f1daf93ecf81e58464382e9f7655370c	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+58dad603de0b7e9e88fe7c442b945f9d46ec0ba3	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a @DISEASE$, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+2bcb958feaa2c8eb82e747e45615b18bcda80863	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a @DISEASE$, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	false
+944b4f5339b23cd1c4bbdeb0e71f6945158aac25	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+90ed02c80e313c7f904717a515769e75b8eadf55	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, facial dysmorphism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+07e7cb01f3a0e04b7d2f320452640e964d1bd489	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	false
+c3278449c8a6511197dc92ae147c32a53715152e	Clinical examination revealed signs and symptoms most compatible with the diagnosis of @DISEASE$, an X-linked @PHENOTYPICFEATURE$ syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms.	has_symptom
+cf3919f7c903a12f8971282cea7d868b4b11e315	@DISEASE$ (@PHENOTYPICFEATURE$, X-linked, marfanoid habitus).	has_symptom
+73f1d4b1221878b052a9b6a19124324d415318a4	In all patients with symptoms of schizophrenia and @PHENOTYPICFEATURE$ @DISEASE$ should be considered in the differential diagnosis.	has_symptom
+e230a15e67780311c6624ab8e6a664ecebc3df69	@DISEASE$ (X-linked @PHENOTYPICFEATURE$ with marfanoid habitus): report of three cases and review.	has_symptom
+c7dff9271c864abe8577f8e11fbe05263e5ef62e	The @DISEASE$ or X-linked @PHENOTYPICFEATURE$ with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males.	has_symptom
+b6cb110ee885b25fcb1ae95521d4ac9b81074318	The @DISEASE$ or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of @PHENOTYPICFEATURE$, affecting predominantly males.	has_symptom
+789dc142f606eaefe2b1645b5b60b43afa4bc327	Notably, missense mutations in MED12 causing the X-linked @PHENOTYPICFEATURE$ (XLMR) disorders FG syndrome and @DISEASE$ disrupt its REST corepressor function.	has_symptom
+99bbc5bef2cc7e3b8558610c614f1abc3a2dc060	Fragile X syndrome (FRAXA) was diagnosed in 16 residents, X-linked @PHENOTYPICFEATURE$ with marfanoid habitus (@DISEASE$) in 2, and non-specific X-linked mental retardation (MRX) in 4 males.	has_symptom
+54159a458dd032af7577f908a2ef76f8815bc134	Marfanoid features and X-linked @PHENOTYPICFEATURE$ associated with craniofacial abnormalities: the @DISEASE$.	has_symptom
+04af167f0a2ac978b315535a9a420262e2080745	First, variants in the Leu-Ser domain have been linked to Opitz-Kaveggia and @DISEASE$, which are forms of X-linked @PHENOTYPICFEATURE$.	has_symptom
+2f07f3128de7f030d80d2a3f9d66c439e92fa3de	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, @PHENOTYPICFEATURE$, Intellectual Developmental Disability, and Seizures).	has_symptom
+a4b251895406080129112c8525749289edd8a048	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	false
+299989f6ada95d5b737baa0602531bff6a7d9b28	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures).	false
+8d73819234eea3c17b328407e4c504e7a43c44c7	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, @DISEASE$, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+2f843ffc3d08cc27400f0dfd96e3bb164f491ad3	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures).	false
+e8be2e031110c2c1f7fac045a06c166132a5b8a1	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	false
+3c3b68dc5fac4815ae4114419fed66a25a97f7d3	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, @DISEASE$, Intellectual Developmental Disability, and @PHENOTYPICFEATURE$).	false
+b536a075bea74a5f9e67960060f9550d587833e2	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel @PHENOTYPICFEATURE$ syndrome, known as SBIDDS syndrome (Short Stature, @DISEASE$, Intellectual Developmental Disability, and Seizures).	false
+4f893089d5b98c78a0e065643ae8aa2354eb7e8f	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS @DISEASE$ (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+267a8b626885bd3c430714469682fa4bb415d823	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+b60c1a3346bbbb10673628754d55db76f83884e9	Neurodevelopmental features in @DISEASE$: report of a new patient with intractable @PHENOTYPICFEATURE$ and review of literature.	has_symptom
+06d2524421895ad3d2e6a76bf54f62632b871f80	The neonate had characteristic features of fetal valproate syndrome, such as @DISEASE$ configuration, slight muscular hypotonia of the whole body, breathing problems, right-hand articular contracture accompanied by radial ray defect, and @PHENOTYPICFEATURE$.	has_symptom
+cc35f13696411d4d3d22e8d605647803a1d37336	The neonate had characteristic features of fetal valproate syndrome, such as @DISEASE$ configuration, slight muscular hypotonia of the whole body, breathing problems, right-hand articular @PHENOTYPICFEATURE$ accompanied by radial ray defect, and cardiovascular malformation.	false
+f1a6730e012abe9d39107d2f0ba935453c46a4f1	The neonate had characteristic features of fetal valproate syndrome, such as @DISEASE$ configuration, slight @PHENOTYPICFEATURE$ of the whole body, breathing problems, right-hand articular contracture accompanied by radial ray defect, and cardiovascular malformation.	false
+c4cae19e759a0cb52e69df1539bf2cc976862273	The neonate had characteristic features of fetal valproate syndrome, such as facial configuration, slight @PHENOTYPICFEATURE$ of the whole body, breathing problems, right-hand articular contracture accompanied by radial ray defect, and @DISEASE$.	false
+c77b0a55f84ca07b6ec9a76060f6e05bfd7cf7be	The neonate had characteristic features of fetal valproate syndrome, such as facial configuration, slight muscular hypotonia of the whole body, breathing problems, right-hand articular @PHENOTYPICFEATURE$ accompanied by radial ray defect, and @DISEASE$.	false
+1147d09b29ed386b4956d7aa580cf8aab7e9f1db	The most striking clinical features of @DISEASE$ which appear within the first 2-3?years of life are: moderate @PHENOTYPICFEATURE$ and short stature, a waddling gait, and increasing shortness of stature with age.	has_symptom
+7689fb83a2e31f832eb42cdd1341cb68e4993c54	The most striking clinical features of @DISEASE$ which appear within the first 2-3?years of life are: moderate short limbs and @PHENOTYPICFEATURE$, a waddling gait, and increasing shortness of stature with age.	false
+aa086ee9d6de2e0ca1971a88fd6927f45af0ff07	The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3?years of life are: moderate @DISEASE$ and @PHENOTYPICFEATURE$, a waddling gait, and increasing shortness of stature with age.	false
+bfae443b44f26dba013af55c781ddf3d4f352dc5	@DISEASE$ (XLSA/A) is a rare inherited disorder characterized by mild anemia and @PHENOTYPICFEATURE$.	has_symptom
+162820653c460c18d96ec4cbed204a5d32e6452e	This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or rare disorders (juvenile hemochromatosis, atransferrinemia, aceruloplasminemia, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's @PHENOTYPICFEATURE$, and @DISEASE$).	has_symptom
+1bf6eec3f7bd7a8313ac149ba5adf1cc9222e421	@DISEASE$ (XLSA-A) is a rare cause of early onset @PHENOTYPICFEATURE$, which may be overlooked due to the usually mild asymptomatic anemia.	has_symptom
+433ac702a90e003eed57cabc13f9f46d67854192	X-linked sideroblastic anemia and ataxia (@DISEASE$) is a rare cause of early onset @PHENOTYPICFEATURE$, which may be overlooked due to the usually mild asymptomatic anemia.	has_symptom
+11ed3ca22e13b812b25f1b2ed325d7caee642ee0	The genes responsible for Friedreich @PHENOTYPICFEATURE$ (FRDA) and for @DISEASE$ are nuclear genes that encode mitochondrial proteins.	has_symptom
+e8e6a14af59ef93d98ac0d0db7afe00ab0eaeb25	Mutations in two such proteins, frataxin and ABCB7, cause Friedreich @PHENOTYPICFEATURE$ and @DISEASE$, respectively, rendering other participants in this pathway functional candidates for hereditary ataxia syndromes.	has_symptom
+e17f3695b7aa9961e064b3e2d5a6dd822dba1a24	Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of neurodegeneration with brain accumulation (NBIA) or following mutations in genes associated with mitochondrial functions, such as ABCB7 in @DISEASE$ (XLSA/A) or the genes encoding frataxin in Friedreich's @PHENOTYPICFEATURE$ (FRDA).	has_symptom
+1981f2318def42f49e555521617db77a061afdd7	@DISEASE$ (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar @PHENOTYPICFEATURE$, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7.	has_symptom
+4e1c69aae1d5cbabe31b71d76338d7bb31a5f1ff	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	has_symptom
+af6ef45f93cefc9b145dda151ee2925821eb2bce	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+8ef53b3d9b1b7518bf02593f5fbf9b50d80bca5f	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation @DISEASE$ characterized by congenital heart defects, characteristic facial appearance, @PHENOTYPICFEATURE$, ectodermal abnormalities and mental retardation.	false
+2e96f0882a5166c83e55e465a2d7744af13aa64b	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation @DISEASE$ characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+486fd03ac0fb42a24e03581e5df91fc1acd049e7	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, @PHENOTYPICFEATURE$, ectodermal abnormalities and @DISEASE$.	false
+1c0feef24d4ce66434ac3e90d506e66f8b39b5a8	(Cardiofaciocutaneous CFC) syndrome is a multiple @DISEASE$/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, @PHENOTYPICFEATURE$, ectodermal abnormalities and mental retardation.	false
+79aac3036854221b07e7583801815dd1c5c7bc73	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, @PHENOTYPICFEATURE$, ectodermal abnormalities and mental retardation.	false
+62877ef05c790604fe290ece961db2702ca338a0	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and @DISEASE$.	false
+bcf93a0e57b3b14550a215f2e856eabf25765565	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/mental retardation syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+ab6a3f6f34f774466cba6cf04cc6fce972e63d0c	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/@DISEASE$ syndrome characterized by congenital heart defects, characteristic facial appearance, @PHENOTYPICFEATURE$, ectodermal abnormalities and mental retardation.	false
+a6726853167382148ebd9cc31bc930cb61514f30	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/@DISEASE$ syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+fc2d2442f4d9757a91c3db24ac154f602803e280	(Cardiofaciocutaneous CFC) syndrome is a multiple @DISEASE$/mental retardation syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+d6ccb7690bf041aeaa4ac7ade057c58f2e79894d	There is a significant clinical overlap between NS and CFC syndrome, but ectodermal abnormalities and @PHENOTYPICFEATURE$ are more frequent in @DISEASE$.	has_symptom
+48887c85989ad8505becb52861dccf8b6d69d52a	There is a significant clinical overlap between NS and @DISEASE$, but ectodermal abnormalities and @PHENOTYPICFEATURE$ are more frequent in CFC syndrome.	has_symptom
+5e3fcc88a27ca1b1fee50901e99cb480377adb0a	Cardio-facio-cutaneous (@DISEASE$) syndrome: report of an adult without @PHENOTYPICFEATURE$.	has_symptom
+e9b2c1446a251af136676dd5fb080bfa9d7bba7e	Cardio-facio-cutaneous (@DISEASE$) syndrome is characterized by a distinctive facial appearance, heart defects and @PHENOTYPICFEATURE$.	has_symptom
+7331f6d58cadd5343bdaf8fe111e0a06f007d0b3	Cardio-facio-cutaneous (@DISEASE$) syndrome is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$ and mental retardation.	false
+eadc6c18a98240a69dbe33587d03616b9407d91f	Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9cbd419fbbc14f51dfbeaad67eda3401cdb14f93	Cardio-facio-cutaneous (CFC) @DISEASE$ is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$ and mental retardation.	false
+ae022f06fa53ec50349fc77ce957bd186ba82aa5	New multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome with cardio-facio-cutaneous involvement--the @DISEASE$.	has_symptom
+3308621b995321c2b455e5e74142f5c1b0e8ae2b	This observation further documents the possibility of vertical transmission of @DISEASE$, which appears to be associated with rare mutations and relatively mild @PHENOTYPICFEATURE$ in affected individual.	has_symptom
+191d5269383131e40126363282430ba439a8454d	The (cardiofaciocutaneous @DISEASE$ is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and @PHENOTYPICFEATURE$.	has_symptom
+8a8e3229d652d9436c2454a31c71c8db575c8f45	The (cardiofaciocutaneous @DISEASE$ is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and @PHENOTYPICFEATURE$ and characteristic dysmorphic features.	has_symptom
+c94801b797c5da30f535b14ab636613b7ac639ea	To our knowledge, this is the first case of @DISEASE$ without @PHENOTYPICFEATURE$ but typical cutaneous findings.	has_symptom
+e39b708f3ba0d807d28473c1368dc00d29826fe0	We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (@DISEASE$) syndrome, but without @PHENOTYPICFEATURE$.	has_symptom
+107b7da4749f611e87731ba0c73c552b14f8fe69	A 56-year-old man with @DISEASE$ developed acute symptoms, including @PHENOTYPICFEATURE$ and cough.	has_symptom
+33bdabdea2a6553e79cbe7f729f71cdb89daf9d0	This is a case of a 60-year-old man with chronic @DISEASE$, with @PHENOTYPICFEATURE$, arthralgias and rash characterised by extensive erythematous plaques on his limbs and trunk 5???days after influenza vaccination.	has_symptom
+5500ad66899998eae392e94dea157ea0d31ea247	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @PHENOTYPICFEATURE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	has_symptom
+0c37095e92efa307e6b8714112aabe11657c5fa7	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+960798a0c10437b02b1fe347122b3dff62f473c6	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+5f3281d4fce9b4c4cbff21cba8175d5722fb5f36	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+eb871186755e29df5fa5230d0e79c9b24db97f87	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+5980d22a9b7a1805ee34492ebd7aa8d0ee61743e	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+57c5e22c3c0cdd374d63a7d1f274e52b0df3fa31	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+d28dc50eb80f3376325450ffc47ecbe6dca1152c	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+4947a0bba88250224615dfc707854c91946c9a86	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+b10c19fd602b3d2ec00e6690c173da8a68e46a4e	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+1e58ae676304651f21ce912b087a6aaf31966bc2	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+ac5ffcdd6589e02e135e5f3ef1b7e106bbc417e1	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+c82e4725346a37e0989b8273ec0704689c00bbc9	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+9210b95c09c5f5ab62a91bc5b826719ebf19b4e2	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+a310610c8fda0c2667c3484c03dd01e34dca6424	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+77583d8d5ae342e1d051fb0d2da1bd809dad1a92	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+8a65f26bec5a4b34c2564704b483f836f064c1fa	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+d9ca9e0c249b507275d1156446683f9c8c21d227	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+48f5e106a4e9a1a8d672e593ad0eff23014ca828	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+b31abc1ad5eea13e765b7bca85082b48027a065d	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+0e8da67d2a5a4b5376529361f51f2f63b02cc536	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+7e07e4339550c191c42091c133ecbbe522b0bd0e	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+a70de789833463cd68651e53575e6b9d0be066a5	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+13c0b05f9ac8388c15bb411314bc39ea7a8f2940	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+b5b0b4151144894328a5d519c4ce1732edd5ada8	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+e3a930c1904d81630292522f854774e8d0068a4e	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+6b6c1b31f882d4b8b4b32314ff96ddcef524b0a8	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+8e299a4d39a76c02ffd61fece02174c3fbbffa89	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+7285b4778c9668f090326b5d1640fbd8559d6e13	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+603d52e649ff6d4448f7452e887c13932cdcba73	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+f4bd6cff984a6424c30b5f69f946f714fa465c43	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+eafff8767dd71474deb6da7a95af9c5ade9b7a1f	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+fb9f112648d1a9c4ba0a1889bc049329130e3c1c	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+c09a9f602353c3122366d015bd198693d3fc3e0a	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+7d13593a38c2def9268f81b4de4c0163239162c7	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+e89f3b63a17ef3f16413d37ba52093bdda8adcce	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+48a34e307265d9324ebbed53ceec6cdeb4a38a46	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+396eba19c7f374dd79ed8e89a226f452d108e3b1	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+ac61d957767b2506d71f8a271501ba16cd1ed89a	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+16027ca5d4b1230fbb24a97655498f8f13b1c63d	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+7801e11af45a8d1c114e0c55cfefb720db2532d3	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+8a66ed5ecf4218205f37773dcb95cd537b39675c	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+9b0fd3a6bff7751c85bf01c1b44a4aede54b2a73	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, @DISEASE$ and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+ca4ccb4784cde52975144a95ccf2cf4230a9f5e7	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+402557b68b374bb3341716c9ba3f67c4d5f6c702	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of @DISEASE$ which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+da838e3c992948a15e9bf685f0a7a0c7ab9b148e	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara @DISEASE$, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+f04ce06cbb4b55c8cd8b8020003962434238c9f9	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+2ca0b98212be009006ee576555eb64c8dfb3a025	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+5eeda7fd13adb58c8368e582d16c3d218294e72c	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+60b5d7e969e0eea8b82b411fe1cc7de1ded878b2	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+bbeb57979e936d94a31399063132be75e281c9f8	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+add09805b55d967832f1d9fabf9e4c408bbd0cf6	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+68b6a4937238b0c61e94ce1e7ecea46a2c1b5176	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+36730eeb47ec10b803e0a1fefedec8b1f2557c09	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+9d66a472e4287b5baf9d439aa246cff7eaebb427	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and @DISEASE$, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+b5946c5ac286dee4919f8c002605747509d39586	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+04a00081ed9ddded4d8d2cb747ae05dd78c13edf	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @DISEASE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+4474f71efd4a9a4295cef8cdc9dd1c0456386b1c	Oral-facial-skeletal (OFS) syndromes include short rib-@PHENOTYPICFEATURE$ (SRP) and oral-facial-digital (@DISEASE$) syndromes.	has_symptom
+6105f6ce159a32be27da406a484eca0e12646019	The atrioventricular canal defect is the congenital heart disease connecting short rib-@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+6a4751bdec1d06547908d4cad223ab4661c856d3	A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and @PHENOTYPICFEATURE$, @DISEASE$, and non-syndromic polydactyly.	has_symptom
+f6e1e1214710933e9c6b64742ce2ba3e2df8ca9a	A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, @DISEASE$, and non-syndromic @PHENOTYPICFEATURE$.	has_symptom
+3129c06a45b76ee28465626b0bddf08dd5ac7d70	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	has_symptom
+c0b4a55245446f8147e5b6817dd8f29ead8dd408	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+5b252fae0f28561798a4f238bd593a114e2cb873	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+87f43919575e3e1af72ff9dd836700628ae03dfe	Bilateral duplication of the hallux, @DISEASE$ of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome.	false
+dfe4b2edcda9c28857cc9401b366dd8af66fa3d9	Bilateral duplication of the hallux, @DISEASE$ of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (OFD) type II syndrome.	false
+5fe0a6659fd475adad2ed7101d8181b9cb07f42d	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+751b6c1439ff1981c8048b1649deacbe501a5e84	@PHENOTYPICFEATURE$, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of @DISEASE$ type IV?	has_symptom
+60b4d678ab941ed7aaf9bf8c13ccc31381a7ca3b	We report a case of @DISEASE$ type II that presented antenatally with polyhydramnios, short humerus, @PHENOTYPICFEATURE$, and duplicated thumb.	has_symptom
+73d1652c195ac9ac4ca7af72c4168bf279ba9b2b	Analysis of 184?individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib @PHENOTYPICFEATURE$ syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and @DISEASE$ IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.	has_symptom
+a7fb8cd7cd8ec9ec710d728c7745f5ab5c3ade07	Analysis of 184?individuals with various ciliopathies (@DISEASE$, Meckel, Joubert, and short rib @PHENOTYPICFEATURE$ syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.	has_symptom
+c09cb6fba039f2941fa8126f6e7cf2a044c8f53b	Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (@DISEASE$), and show that the OFD patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	has_symptom
+040a8a2bbe2766a78ad3c597e6248000db0421df	Here, we describe a patient with a mutation in TMEM107 that developed atypical @DISEASE$ (OFD), and show that the OFD patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	has_symptom
+966a4384e6fe268bbf9eaafdb6e89aef2a395163	Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (OFD), and show that the @DISEASE$ patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	has_symptom
+9b915e09e0ac002f06e406b955145bfd2d817e6c	The features of @DISEASE$ type II overlap with those of OFD type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	has_symptom
+d1d05af535b571539e6e04a63a8171b6e3560f66	The features of OFD type II overlap with those of @DISEASE$ type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	has_symptom
+cb078c1a49fbbc107008c2be9aa685ff765e05e0	Naumoff short-rib @PHENOTYPICFEATURE$ syndrome compounded with Mohr @DISEASE$.	has_symptom
+b8d72523441769584945173f697c1e28721e8a04	deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with @DISEASE$, @PHENOTYPICFEATURE$, growth restriction and developmental delay.	has_symptom
+24c0e8e60535a5f2145318b0d278b2f39c509910	Factors associated with death on multivariable analysis were male sex (P?=?0.01), @PHENOTYPICFEATURE$ (P?=?0.03), and concomitant myelodysplastic syndrome (@DISEASE$) (P?=?0.004) or another hematologic malignancy (P?=?0.01).	has_symptom
+4c9e2212a622520dbab16dc9470a151353420085	Ventriculomegaly, intrauterine growth restriction, and @PHENOTYPICFEATURE$ as salient prenatal sonographic findings of @DISEASE$ associated with monosomy 17p (17p13.2	has_symptom
+0d3048f1c98293429d1e2fab042582380f8bba57	A 7-year-8-month-old boy with @DISEASE$ caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset @PHENOTYPICFEATURE$.	has_symptom
+61d8055812ef373c3774a19cf071d7398d6306a7	We describe the clinical data of one case of @DISEASE$, genetically determined by KRAS mutation, that involved chylothorax, lymphedema, sinus pericranii, craniosynostosis, and @PHENOTYPICFEATURE$.	has_symptom
+0882449191e1f2a45b1434a21fc63c457aa7cb5e	B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in @DISEASE$ patients, including reduced life span, small size, facial dysmorphism, cardiomegaly, and @PHENOTYPICFEATURE$.	has_symptom
+2072940ec2aabd9327746d470083561a64d1df9b	B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in CFC patients, including reduced life span, small size, @PHENOTYPICFEATURE$, cardiomegaly, and @DISEASE$.	false
+442a86ddbe00999c019dd05aad15d068acfb2c04	B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in @DISEASE$ patients, including reduced life span, small size, @PHENOTYPICFEATURE$, cardiomegaly, and epileptic seizures.	false
+141b1d97e0f6f3b57337eeecffebf3f4c5e22bae	Here we discuss the possibility for the linkage between the development of acute encephalopathy and @DISEASE$ which is generally susceptible to @PHENOTYPICFEATURE$ or epilepsy.	has_symptom
+8747519d8f0492aceb05bb14d8cffa930902b2de	The salient features of temporal lobe epilepsy with @DISEASE$ were early age at onset of habitual @PHENOTYPICFEATURE$ (about 10 years), the predominance of autonomic auras, and a high incidence of MRI evidence of unilateral medial temporal sclerosis.	has_symptom
+f6e8fbbbefbaa039a671876d41ce554ac8c2858f	Unexplained aplastic anaemia, immunodeficiency, and @PHENOTYPICFEATURE$ (Hoyeraal-Hreidarsson syndrome) due to mutations in the @DISEASE$ gene, DKC1.	has_symptom
+8bb90e3347616eec8b63c96d2204801bdc52fbaf	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	has_symptom
+0c433d502cc4f0d15d64f61a3e20b19e937cb9eb	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+634f3054bb7d9209436720710162ac88d35d2da4	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, and extremely short telomeres.	false
+93acb214e2a6a3be3f3a606714a1d813d43ad15b	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+cd9f4340fa3788d96d94f21eaf23de42e35870f3	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, @DISEASE$, and extremely short telomeres.	false
+c544495240f0a878b64d6000027e14d6dce57a8c	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+31f903ade51fb3e4b243bf8a0ae7d01f6b19bab0	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	has_symptom
+aa3bde8d15415cc5416a720f32f59bbee5b28b73	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, and severe immunodeficiency in addition to features of DC.	false
+a1702ef2345753863c51c9bd1008f8abaf8883b7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @DISEASE$, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+11aecb5b3168355ec14a9b55f69f37790587d465	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+bdae71b7c7c3f0677fe6e3aab383e840cdd5f3f7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+d35c1e5c008806c57d41f8bdab3010ffb22992bd	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe @DISEASE$ in addition to features of DC.	false
+883689220cc019b89f1e8931ef96fdcd1b19192d	The Meier-Gorlin syndrome (MGS) or @DISEASE$ (MIM #224690) is a rare disorder with bilateral microtia, aplasia or hypoplasia of the patellae and severe intra-uterine and post-natal @PHENOTYPICFEATURE$.	has_symptom
+5270d11a450ad1bd1ca954ed36ea654854e034a2	The @DISEASE$ (MGS) or ear, patella, short stature syndrome (MIM #224690) is a rare disorder with bilateral microtia, aplasia or hypoplasia of the patellae and severe intra-uterine and post-natal @PHENOTYPICFEATURE$.	has_symptom
+0b39aead7786ce4b8b0ae0dc45446ccd53ee1178	This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, Short stature syndrome (@DISEASE$), which is distinguished by the triad of microtia, absent patellae and @PHENOTYPICFEATURE$.	has_symptom
+ae28293bd059a4d25eb438cf3bc4e2ab063c265b	This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, @PHENOTYPICFEATURE$ @DISEASE$ (Meier-Gorlin syndrome), which is distinguished by the triad of microtia, absent patellae and growth retardation.	false
+21ae3435bf94b3d61225a9ad4b55ad6734237f40	This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, @PHENOTYPICFEATURE$ syndrome (@DISEASE$), which is distinguished by the triad of microtia, absent patellae and growth retardation.	false
+f2e817f0fc0d231ba566d5a8cc6226de5735a471	This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, @PHENOTYPICFEATURE$ syndrome (Meier-Gorlin syndrome), which is distinguished by the triad of microtia, absent patellae and @DISEASE$.	false
+e90130cc254d65007f802e54667122771fa52640	The @DISEASE$ (MGS) is a rare autosomal recessive disorder, characterized by bilateral microtia, aplasia or hypoplasia of the patellae, and severe intrauterine and post-natal @PHENOTYPICFEATURE$.	has_symptom
+3ee80b73f678333e7c6f547284b39413c2e67e22	@DISEASE$ (PLS) is a rare form of motor neuron disease characterized by @PHENOTYPICFEATURE$.	has_symptom
+36dcd2990a1e5829e1d79aa8b5d75bc5593286f6	Primary lateral sclerosis (@DISEASE$) is a rare form of motor neuron disease characterized by @PHENOTYPICFEATURE$.	has_symptom
+adcacc70dff065e99210c50c2ccd9dcc47c4eb84	Primary lateral sclerosis (@DISEASE$) is the designation for the syndrome of progressive @PHENOTYPICFEATURE$ when no other etiology is identified.	has_symptom
+b722e856e93ae08ba7f5db020d853fecff0d5199	@DISEASE$ (PLS) is the designation for the syndrome of progressive @PHENOTYPICFEATURE$ when no other etiology is identified.	has_symptom
+f1a1a84a772b182b474ce446242c21c9e3cb57b9	[Papillary @PHENOTYPICFEATURE$ and the @DISEASE$].	has_symptom
+0054cce8a68a2ed7b5bdbd67024c1fe250c4663c	[@DISEASE$ as a rare cause of bilateral optic disc @PHENOTYPICFEATURE$].	has_symptom
+aad74d730091df8c9a6f9a5a26101420aa257284	Polyneuropathy, skin hyperpigmentation, @PHENOTYPICFEATURE$, and hypertrichosis in localized @DISEASE$.	has_symptom
+5e86fd5fc6aa59cab8749757e609078b63236117	Polyneuropathy, @PHENOTYPICFEATURE$, edema, and @DISEASE$ in localized osteosclerotic myeloma.	false
+2b39d89d294b40a9cbc8ffe3ec4862f286cc846f	Polyneuropathy, @PHENOTYPICFEATURE$, edema, and hypertrichosis in localized @DISEASE$.	false
+2b48dfe2c9b775f043569aadad2fa1580ee3cc71	Polyneuropathy, @PHENOTYPICFEATURE$, @DISEASE$, and hypertrichosis in localized osteosclerotic myeloma.	false
+7f2b221d18d27f684b6f23edf26f2557abc5a810	@DISEASE$, @PHENOTYPICFEATURE$, edema, and hypertrichosis in localized osteosclerotic myeloma.	false
+97092c5eb13afa3ffbd88128884de1014fdaec60	Thus, his optic disc @PHENOTYPICFEATURE$ was the presenting feature of the POEMS syndrome and @DISEASE$.	has_symptom
+d76dcad65368a9044f671c73d8139f24a52e1e5f	Thus, his optic disc @PHENOTYPICFEATURE$ was the presenting feature of the @DISEASE$ and osteosclerotic myeloma.	has_symptom
+1aaacdabbb8bf984b7440a23c2db8afa6f849db6	Altered axonal excitability properties and nerve @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7e6be9bb1266dfc6ee1245b6b6425fcff7af7555	Diurnal fluctuation of @PHENOTYPICFEATURE$ synchronized with plasma VEGF concentration in a patient with @DISEASE$.	has_symptom
+04265df8bdc80263acbe521461d919f652fd8b78	Thalidomide reduces choroidal thickness and optic disc @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+1b029d3714177806b00f4c5b9fd84121a7fc9fb9	The diagnoses of @DISEASE$, @PHENOTYPICFEATURE$ systemic scleroderma and a fortuitous association may be also discussed.	has_symptom
+a86a32aeaf97d61d88baa27cd0b1b91611dac41b	The diagnoses of @DISEASE$, edematous systemic @PHENOTYPICFEATURE$ and a fortuitous association may be also discussed.	false
+4dbde60b55b83822a3ae12b781f0f21f53cb67e7	The diagnoses of POEMS syndrome, @DISEASE$ systemic @PHENOTYPICFEATURE$ and a fortuitous association may be also discussed.	false
+5d76fc41a2c3890dbd20e8717fb250a3d09ce357	Acute @PHENOTYPICFEATURE$/cutaneous distension syndrome due to @DISEASE$.	has_symptom
+283b74e890a010681882632cac9afc5b716cd1b0	Optic disc @PHENOTYPICFEATURE$ (ODE) is a frequent ocular sign in @DISEASE$.	has_symptom
+c336f24512a746f1d09df116404d846aec0bcc71	@DISEASE$ (LDS) results from mutations in receptors for the cytokine transforming growth factor-? leading to aggressive aortic pathology sometimes accompanied by specific phenotypic features including bifid uvula, hypertelorism, @PHENOTYPICFEATURE$, and generalized arterial tortuosity.	has_symptom
+bf47302e84cbc38f226a80fe97190f4a8c93466d	@DISEASE$ (LDS) results from mutations in receptors for the cytokine transforming growth factor-? leading to aggressive aortic pathology sometimes accompanied by specific phenotypic features including bifid uvula, @PHENOTYPICFEATURE$, cleft palate, and generalized arterial tortuosity.	false
+b82adedfc4cda76c93cb52c45acae45178ffc39d	Loeys-Dietz syndrome (LDS) results from mutations in receptors for the cytokine transforming growth factor-? leading to aggressive aortic pathology sometimes accompanied by specific phenotypic features including @DISEASE$, @PHENOTYPICFEATURE$, cleft palate, and generalized arterial tortuosity.	false
+52e7f9d30ad1cbb610e3ccff0744f9bb195c4d1b	Loeys-Dietz syndrome (LDS) results from mutations in receptors for the cytokine transforming growth factor-? leading to aggressive aortic pathology sometimes accompanied by specific phenotypic features including bifid uvula, @PHENOTYPICFEATURE$, @DISEASE$, and generalized arterial tortuosity.	false
+ec8dedb23f22076e495f1fca4c731d27a24592bf	@DISEASE$ (LDS) is an autosomal dominant connective tissue condition with clinical features that may include ocular hypertelorism, @PHENOTYPICFEATURE$, craniosynostosis, and vascular dilation and tortuosity.	has_symptom
+373967bcfa41ff0caa23843f3b042a7f4ea4af50	Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue condition with clinical features that may include @PHENOTYPICFEATURE$, cleft palate, @DISEASE$, and vascular dilation and tortuosity.	false
+5f18f0b2f81d8ea37c62638b37c7d4fbcdbbbfd4	@DISEASE$ (LDS) is an autosomal dominant connective tissue condition with clinical features that may include @PHENOTYPICFEATURE$, cleft palate, craniosynostosis, and vascular dilation and tortuosity.	false
+5256b2c5374250c0ce9f1913077bbe0af0b33fa8	Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue condition with clinical features that may include @PHENOTYPICFEATURE$, @DISEASE$, craniosynostosis, and vascular dilation and tortuosity.	false
+bcfa15f09892fc43628b9d0170d985738551017c	@DISEASE$ (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or @PHENOTYPICFEATURE$.	has_symptom
+db9a1c6019d9634373f7d3bfd3474b3ab91e7842	@DISEASE$ (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$, and bifid uvula or cleft palate.	false
+511d7a066dd50c70641d6fdf8c9252684fb5a6bc	Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$, and bifid uvula or @DISEASE$.	false
+3fe3b77f8e770ad27f6d3f3036eb7f998ca949f1	Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$, and @DISEASE$ or cleft palate.	false
+3a87f74b6b165254f446f435d377fbcce3a135aa	@DISEASE$ (LDS) is an autosomal dominant connective tissue disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, dilation of the aortic arch, blood vessel tortuosity and a high risk of aortic dissection.	has_symptom
+4d41f2b08ebe57b224c4644c8258b6ef9ea9c547	Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, dilation of the aortic arch, blood vessel tortuosity and a high risk of aortic dissection.	false
+cb84f2dceb5076a07777a70377bfa4c8ca4f8cf4	Loeys-Dietz syndrome (LDS) is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$, cleft palate, dilation of the aortic arch, blood vessel tortuosity and a high risk of aortic dissection.	false
+ed15343c68d6d6882b5fb37c3c12e051b8bdddce	@DISEASE$ (LDS) is an autosomal dominant connective tissue disorder characterized by @PHENOTYPICFEATURE$, cleft palate, dilation of the aortic arch, blood vessel tortuosity and a high risk of aortic dissection.	false
+8fdc333a7d593bdc0540b329b5ec8fbd00aa3807	@DISEASE$ (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of hypertelorism, bifid uvula or @PHENOTYPICFEATURE$, arterial tortuosity and aortic aneurysms.	has_symptom
+c8aad5cc2dee711b0663dd41923ce3bce78d3519	Loeys-Dietz syndrome (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of @PHENOTYPICFEATURE$, bifid uvula or @DISEASE$, arterial tortuosity and aortic aneurysms.	false
+f5bbee03c58fb60c6108da2fc3f7922551743e82	Loeys-Dietz syndrome (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of @PHENOTYPICFEATURE$, @DISEASE$ or cleft palate, arterial tortuosity and aortic aneurysms.	false
+47333d701b9c516d821b091773b80608b6adaed1	Loeys-Dietz syndrome (LDS) is a rare @DISEASE$ with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of @PHENOTYPICFEATURE$, bifid uvula or cleft palate, arterial tortuosity and aortic aneurysms.	false
+17589b20b85a1a9d3a4a40eacab9a9051da973ba	@DISEASE$ (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of @PHENOTYPICFEATURE$, bifid uvula or cleft palate, arterial tortuosity and aortic aneurysms.	false
+bd87d128e09a3fd160ca84716578a452dc22c719	@DISEASE$ (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, hypertelorism, and bifid uvula or @PHENOTYPICFEATURE$.	has_symptom
+c8d1c3ff5abb734d96231bd394c90d3ac75c4d38	Loeys-Dietz syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, @PHENOTYPICFEATURE$, and bifid uvula or @DISEASE$.	false
+bef27194d5b11f694cf2e3eeb37b3b2224d64e8a	@DISEASE$ (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, @PHENOTYPICFEATURE$, and bifid uvula or cleft palate.	false
+0065f8000d8bcd8e79cd39735a7c90d4ca0e2a94	Loeys-Dietz syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, @PHENOTYPICFEATURE$, and @DISEASE$ or cleft palate.	false
+ea1fda426ac628318e9028e668427039baa59c7e	The extreme of clinical severity is represented by the @DISEASE$ (LDS), an autosomal dominant disorder characterized by hypertelorism, bifid uvula, and/or @PHENOTYPICFEATURE$, and aggressive arteriopathy causing arterial tortuosity as well as life-threatening complications such as vascular aneurysms and dissections.	has_symptom
+6a1d741083e99197419ff38059f5b4096f346422	The extreme of clinical severity is represented by the Loeys-Dietz syndrome (LDS), an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and/or cleft palate, and aggressive arteriopathy causing arterial tortuosity as well as life-threatening complications such as vascular aneurysms and dissections.	false
+f94034543fe6c4cc4ff0e126d79e851b4762efb6	The extreme of clinical severity is represented by the Loeys-Dietz syndrome (LDS), an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, bifid uvula, and/or @DISEASE$, and aggressive arteriopathy causing arterial tortuosity as well as life-threatening complications such as vascular aneurysms and dissections.	false
+fa1fee1e8584435f9e88b0fc871951b86a38b419	The extreme of clinical severity is represented by the @DISEASE$ (LDS), an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, bifid uvula, and/or cleft palate, and aggressive arteriopathy causing arterial tortuosity as well as life-threatening complications such as vascular aneurysms and dissections.	false
+e846d7a617215c4422f4f995981a927fc3a45daf	We present a Chinese female neonate with genetically-confirmed @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and an early dilatation of the aortic root and ascending aorta.	has_symptom
+2d8fe56f9bb8d0a075095a53b00722b6200a36b2	We present a Chinese female neonate with genetically-confirmed @DISEASE$, cleft palate, @PHENOTYPICFEATURE$, and an early dilatation of the aortic root and ascending aorta.	false
+e67fa21cf035a4ac2bc05c30783ad00d84782099	We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, @DISEASE$, @PHENOTYPICFEATURE$, and an early dilatation of the aortic root and ascending aorta.	false
+e58e667b462cd88cbcb115c0596521970465fe8f	@DISEASE$ presents early in life with rapidly progressive aortic aneurysmal disease, hypertelorism, and bifid uvula/@PHENOTYPICFEATURE$.	has_symptom
+7cad42ab1c6c7c247f3bb555a465185d8f127f44	Loeys-Dietz syndrome presents early in life with rapidly progressive @DISEASE$ disease, @PHENOTYPICFEATURE$, and bifid uvula/cleft palate.	false
+3a8c674cf92914b178f722588ad3ead5f11f72b7	Loeys-Dietz syndrome presents early in life with rapidly progressive aortic aneurysmal disease, @PHENOTYPICFEATURE$, and bifid uvula/@DISEASE$.	false
+315887273841b31131d43581e772682e40b341ba	@DISEASE$ presents early in life with rapidly progressive aortic aneurysmal disease, @PHENOTYPICFEATURE$, and bifid uvula/cleft palate.	false
+63f57ea28afabc7f7191ed81ccf6efca6c689b4c	@DISEASE$ (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism and a bifid uvula or @PHENOTYPICFEATURE$.	has_symptom
+6ea952b515a17020656e04ffb2400912245a76a4	Loeys-Dietz syndrome (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$ and a bifid uvula or @DISEASE$.	false
+800c60d1b4d606cceed4ab3afb11f255b2f96ad1	@DISEASE$ (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$ and a bifid uvula or cleft palate.	false
+37945481b5d80c2f228e70f05139c4325f23e0c1	Loeys-Dietz syndrome (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$ and a @DISEASE$ or cleft palate.	false
+2355969637edf66d077daae5f12546b7a1683b17	@DISEASE$ (MPS) is a rare X-linked disorder characterised by deafness, cognitive impairment, @PHENOTYPICFEATURE$ and distinct craniofacial dysmorphisms, among other features.	has_symptom
+9d7a8829596c154d439ce831b0d402a942eb8615	Martin--Probst syndrome (MPS) is a rare X-linked disorder characterised by deafness, @PHENOTYPICFEATURE$, @DISEASE$ and distinct craniofacial dysmorphisms, among other features.	false
+9fd291c3e1e0e7def765ca289ae1cc61f7aadec8	@DISEASE$ (MPS) is a rare X-linked disorder characterised by @PHENOTYPICFEATURE$, cognitive impairment, short stature and distinct craniofacial dysmorphisms, among other features.	false
+337cb9e4fa69b72908e2d13cc6e5e4c8381ad381	@DISEASE$ (MPS) is a rare X-linked disorder characterised by deafness, @PHENOTYPICFEATURE$, short stature and distinct craniofacial dysmorphisms, among other features.	false
+4fad8f1200a518a7780268419974ce84945f1875	Martin--Probst syndrome (MPS) is a rare X-linked disorder characterised by @PHENOTYPICFEATURE$, cognitive impairment, @DISEASE$ and distinct craniofacial dysmorphisms, among other features.	false
+1184fe4e50bd6b4a3af645f9c83fa2c3ff17483b	The Gardner-Silengo-Wachtel or @DISEASE$: male pseudohermaphroditism with @PHENOTYPICFEATURE$, cleft palate, and conotruncal cardiac defect.	has_symptom
+c0bd2e8e0551b3853a8855132cc4b44972f85ecb	The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with @DISEASE$, @PHENOTYPICFEATURE$, and conotruncal cardiac defect.	false
+f9939432cc66ddd11b075eafad84f42886dc1048	The Gardner-Silengo-Wachtel or @DISEASE$: male pseudohermaphroditism with micrognathia, @PHENOTYPICFEATURE$, and conotruncal cardiac defect.	false
+8d9c383256eaecc5f35de990021aea84a2cf07d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	has_symptom
+f1099313faaf184b1910e6ec72e9ee43e03479f5	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+60663af6a9c012efd25f4ecf5913ac186afe02d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+668576c9f7266ff38b29d5af576e6fb9e41281fd	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+fda43a3f3aa2ddd44d93415464561f0ecd2d55c6	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @DISEASE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+9f32c1b7d76f6b876850e9eb92427412c5c8a15b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+ba480271d2c6ffa8dc24395d9161c71fe6a02d1b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+60525c2998b3affea4ae9fea40e68eee47a3edd7	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @DISEASE$; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+1c354f577d92ddd1ba74c918554c84742a8ef355	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+80d0b1822b8fd64256655b4a497384187b410941	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+a4a6112dd15a5af053fab8c2e4dfc01f3c3bf929	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @DISEASE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+8a0cecc516a588288a1623561698e1ad711d531a	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+2e092a5e571f12a9b11ac8ef089447a23f8ebc81	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+71963d587fdc51e683fa77dea12018232c1a0b33	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	has_symptom
+b8f96903559b483bca8b8206d505dc9bad253fd5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+d565bce2533eea6d2f13d7a3f084634863e40f94	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eedae195ffc1dd90538e0687af6c633458b76946	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+a05f14193e9df5a1a0dba9e6ab0d957b2bd41bb5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+3ab4049036e11fe919e1120ed1d09761eadf07c2	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset @DISEASE$ 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+31a499f6520a41e932458836358d8b57e2bf7dff	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB @DISEASE$ (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+84ce17b565da44ea8f1031449e8b145d60714b4c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (@DISEASE$ susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+667f633abe05e3e8fcc7cd5ae5714dafde362cc1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+8a5fdcd1dc9fc0584013fc8ae9f409984124e7ba	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (@DISEASE$, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dcdee0c226f0f113268c6da3e4c4a91b68ff3b9c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal @DISEASE$, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+5ea45b8ed296792c32cd9c8fe5885665c4f10f8c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+2bdc159e3088fb20bc8d4b54951fd473594e68a6	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+6b49a370b232d0e4bb87e11a2b07b2db39743267	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dcd176f7b223a33adf164c22992fa581a7e6591c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+36ec3077a10dc472d62cac4586c4fa950e6956fa	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, @DISEASE$, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+71bff801b5f8b671e86baa0816807f39c43c3dd7	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (@DISEASE$, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+814d7c9baa5768a1ef81230e17385edbd844e807	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @DISEASE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+04b40812b53894440f5a3231bc9ed375a8cc97a3	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+e426a7b711bb035ea233838ee95ee1b038b183e1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, @DISEASE$ of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dd2bdb0ab0caaa496416926980ed422c5b0bad5b	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+88914dbb23521c398618756b0bcbfeee5b11295f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+81e56491141573716393ab4288c21d1135019656	Formerly, long-term sequelae related to "@DISEASE$ syndrome" such as hepatic and @PHENOTYPICFEATURE$, type 1 diabetes mellitus, Grave's disease, autoimmune hemolytic anemia, and lupus have also been reported.	has_symptom
+28ce96f4d259e2df512387f33bb99317356fc3c9	We report a case of @DISEASE$ associated with quinine or thiamine (which in France are combined in Hexaquine with serious hepatitis and @PHENOTYPICFEATURE$ and associated viral reactivation of Human Herpes Virus 6 (HHV6).	has_symptom
+94372b7d3d820d1c20810055d59748184935f4de	Vancomycin-induced @DISEASE$ with dialysis-dependent @PHENOTYPICFEATURE$ and cardiac arrest.	has_symptom
+229520cf43fab4ae45afdb62dc25fbc24041921e	Drug-induced lymphadenopathy with eosinophilia and @PHENOTYPICFEATURE$ mimicking lymphoma disease: dramatic onset of @DISEASE$ associated with antibiotic treatment.	has_symptom
+e92bf53b1f065d219a2f4b5c2a706b254faeb4b3	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, myoclonus epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, @PHENOTYPICFEATURE$ and retinitis pigmentosa syndrome and @DISEASE$.	has_symptom
+af6079796f430e04fd29ed4ca221dd3eb35b4e16	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes @DISEASE$, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness.	false
+4057e42d0d4eb0ff88b657e75f3ee5bfd60468db	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, @DISEASE$, neuropathy, ataxia and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness.	false
+07de8b8e2988c2204802473e870457c4e4bd473e	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and retinitis pigmentosa syndrome and @DISEASE$.	false
+eef20dc5f6fe4d24a39ab265fb9847fd2eb2b483	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, @DISEASE$, ataxia and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness.	false
+e02c1d5defa6ec53f3cfc67b0e4ec6078783b57c	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and retinitis pigmentosa @DISEASE$ and maternally inherited diabetes and deafness.	false
+ebd4f2ac2147d555e58059626caddff93b60b6cd	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and @DISEASE$ syndrome and maternally inherited diabetes and deafness.	false
+c0a0855c737ccbda3c7d7307ab2bf92f9ae9b483	Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, @DISEASE$ and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness.	false
+53aab1d25aec50f22a0844bd9d831c7ec4d42e19	Associated clinical features include a characteristic facial appearance (@DISEASE$-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, @PHENOTYPICFEATURE$, developmental delay, short stature, and corneal opacities.	has_symptom
+5a9772c6828a89508d514953156127a4504ee12d	Associated clinical features include a characteristic facial appearance (@DISEASE$-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, short stature, and @PHENOTYPICFEATURE$.	false
+dc9ca1a2bcc8691168596b78ead0c6a1e9906bba	Associated clinical features include a characteristic facial appearance (mid-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, @DISEASE$, developmental delay, short stature, and @PHENOTYPICFEATURE$.	false
+f09d504f683fd290defaf293a9a2684967cfe3c9	Associated clinical features include a characteristic facial appearance (mid-face hypoplasia, @PHENOTYPICFEATURE$, and low-set, posteriorly rotated ears), brachycephaly, strabismus, @DISEASE$, developmental delay, short stature, and corneal opacities.	false
+ff668a614977a188098e1bae33b5e6d112245b9a	Associated clinical features include a characteristic facial appearance (@DISEASE$-@PHENOTYPICFEATURE$, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, short stature, and corneal opacities.	false
+d046c5c24f12f4ce73f635a9a503c0c31b78ef6d	Associated clinical features include a characteristic facial appearance (@DISEASE$-face hypoplasia, @PHENOTYPICFEATURE$, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, short stature, and corneal opacities.	false
+aae67a1b528e5df7dc9e671f5935c9da64e7b9c4	Associated clinical features include a characteristic facial appearance (mid-@PHENOTYPICFEATURE$, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, @DISEASE$, developmental delay, short stature, and corneal opacities.	false
+8c2c26cc258714aac923c9ad60ca1b7a48fb160a	Associated clinical features include a characteristic facial appearance (@DISEASE$-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, @PHENOTYPICFEATURE$, and corneal opacities.	false
+89f7856f8d7ada98f2ed2e5406e0ada4083551c6	Associated clinical features include a characteristic facial appearance (mid-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, and corneal opacities.	false
+e4fa54fe4edb04b6fe629986e083120573123896	Three @DISEASE$ patients exhibited @PHENOTYPICFEATURE$.	has_symptom
+9e3c39d1ecc33d7c8c095e5f88e944e3da1dffef	@DISEASE$ with @PHENOTYPICFEATURE$: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation.	has_symptom
+843908532bfcedfff6466b0b3f90c9cebb01cdfd	The syndromic @DISEASE$ most frequently associated with laminar cortical necrosis is the MELAS syndrome, but was also described in a single patient each with Leigh syndrome, mitochondrial depletion syndrome, and mitochondrial spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+8184d37895c7ecc04760b90cd5c7fed96d29237a	We retrospectively reviewed 80 patients with nonsyndromic mitochondrial cytopathies (ie, not Kearns-Sayre syndrome, myoclonus epilepsy associated with ragged red fibers [MERRF], mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes [MELAS], neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, Leigh disease, @DISEASE$, and myoneurogastrointestinal disorder and encephalopathy) and found 10 cases of optic nerve hypoplasia.	has_symptom
+8761992b85c3a6f6d7903c146173f43984029326	Convulsion and @PHENOTYPICFEATURE$ associated with @DISEASE$: a case report.	has_symptom
+1f2d42291a18c534d2f96de798429df05737ad93	Targeted next generation sequencing of a panel of @PHENOTYPICFEATURE$-related genes identifies an EHMT1 mutation in a @DISEASE$ patient with autism and normal intellectual performance.	has_symptom
+ad2933f6b9764f90409671c678a358c375acc3be	Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a @DISEASE$ patient with @PHENOTYPICFEATURE$ and normal intellectual performance.	has_symptom
+566da99b7f26ee0dfe7287db8bb32267ddb6fc7a	Establishment of EHMT1 mutant induced pluripotent stem cell (iPSC) line from a 11-year-old @DISEASE$ (KS) patient with @PHENOTYPICFEATURE$ and normal intellectual performance.	has_symptom
+1f33c2a663cab8b3eb17a6cf7dd79541bb42be10	Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+dedba9d71b4b889939b399b87fc804674ffb4af5	@DISEASE$ (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, @PHENOTYPICFEATURE$, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations.	has_symptom
+1a1f2c14008763ced6e57508cdb2baff1d871ad8	@DISEASE$ (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+ad16e63da910c93c39977e4c3400ef2aaa5bd113	Fryns syndrome (FS) is a multiple malformations syndrome with major features of @DISEASE$, pulmonary hypoplasia, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+4d849168ca58ab40662c314b1db1eb3e14d1c25b	Fryns syndrome (@DISEASE$) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+69d0d5aae3901b90932d4d7fd9f8ff9a8508c9fd	Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, @DISEASE$, craniofacial dysmorphic features, @PHENOTYPICFEATURE$ digit hypoplasia, and a range of other lower frequency malformations.	false
+e8fc0b29e8bb12ba9fda947f7fef8739a45598e4	Some @DISEASE$ patients also have cerebral @PHENOTYPICFEATURE$ or hydrocephalus.	has_symptom
+e46d9d6a99a9f74b6117df955b9ae8f79a8ea01c	Some @DISEASE$ patients also have cerebral ventriculomegaly or @PHENOTYPICFEATURE$.	false
+d69014d9266712a99f9fe935f25f9cc8312028b8	Some PCD patients also have cerebral @DISEASE$ or @PHENOTYPICFEATURE$.	false
+24ead55295f43530a2aeca178586af41329496e7	We report here two fetuses and one newborn with mild cerebral @PHENOTYPICFEATURE$ and a suspected and/or confirmed diagnosis of @DISEASE$.	has_symptom
+fa7cb388c880dc12334998cc028c057439110255	Satellite cell dysfunction contributes to the progressive @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+6f9981f58a843074a24aab3ddbbc79dcbd29d234	@DISEASE$ (DM1) and type 2 (DM2) are autosomal dominant multisystemic disorders linked to two different genetic loci and characterized by several features including myotonia, @PHENOTYPICFEATURE$ and insulin resistance.	has_symptom
+eb4f8a2fd3c56d6417fedf3dd6050255b62606ad	Quantitative assessment of skeletal @PHENOTYPICFEATURE$ in patients with @DISEASE$ using MRI.	has_symptom
+9ee859831e3fd6ea1d0d0f0c36e742c8eee33fc9	@DISEASE$ (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, @PHENOTYPICFEATURE$, and muscle weakness.	has_symptom
+e6488509735c045871397fb1fbb974041d26b7ed	Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+011734fee52775a840a35e5dd1cb0a5a395365b5	Myotonic dystrophy type 1 (DM1) and @DISEASE$ (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, muscle atrophy, and @PHENOTYPICFEATURE$.	false
+e1e41c6ef94c3f54952109e096afa632e9cf76e5	@DISEASE$ (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, muscle atrophy, and @PHENOTYPICFEATURE$.	false
+a3b6f4c7128314a68e2825b2af7897b4db3f2dea	@DISEASE$ (DM) is an autosomally dominant hereditary multi-organ disease which is characterized primarily by myotonia and @PHENOTYPICFEATURE$ and thereafter by cataract and disturbances in cardiac conduction.	has_symptom
+027080258682ddded3e2ea300ce4ff96c7b6e6b5	@DISEASE$ (DM) is an autosomally dominant hereditary multi-organ disease which is characterized primarily by myotonia and muscular atrophy and thereafter by @PHENOTYPICFEATURE$ and disturbances in cardiac conduction.	false
+a4a00af19b888f8f637777172e047f6edcfece78	Dystrophia myotonica (DM) is an autosomally dominant hereditary multi-organ disease which is characterized primarily by myotonia and @DISEASE$ and thereafter by @PHENOTYPICFEATURE$ and disturbances in cardiac conduction.	false
+1e5645861e11b7c8614680dd5c9e9a377923d61c	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare @PHENOTYPICFEATURE$, Curschmann-@DISEASE$ of myotonic dystrophia, Huntington disease, Friedreich ataxia, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	has_symptom
+08e3c3bc1743b1f701de6003fe90f3cd7d94722c	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as @DISEASE$ X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+85ea221cd07006660618c5e514b02ac87c27296c	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare @DISEASE$, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+3c3c7fa66513ebcdcbfb90f79be24b30fc2d1b3e	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonic dystrophia, @DISEASE$, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+c9d22e64c533a069abf010ef51d2e6f005a7f6ac	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A @DISEASE$, FRA X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+4f8114e74e1640e21d46ea615e41e3a0946c3b13	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E @DISEASE$, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+293688697e2247571cc732771d224295e6b3c39b	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-@DISEASE$ of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+c9ae44d4d552204269f9d4b2d3047ec969d96b66	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of @DISEASE$, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+d38f8509732bbc43e1820cec262124ebd384e7cd	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, @DISEASE$ X E syndrome, Kennedy syndrome spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+debee33a7ea4b5c7ff84146a41ff5a0a26968ba6	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, FRA X E syndrome, Kennedy @DISEASE$ spinobulbare muscle atrophy, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich @PHENOTYPICFEATURE$, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+b77091a334f6226bdfe4eb23ab69ad964c2ed9b3	An unusually large Sertoli cell adenoma was detected in a patient with @DISEASE$ and there is a description of the uncommon hormonal data found in this particular case which are not typical for this kind of @PHENOTYPICFEATURE$.	has_symptom
+b77091a334f6226bdfe4eb23ab69ad964c2ed9b3	An unusually large Sertoli cell adenoma was detected in a patient with @DISEASE$ and there is a description of the uncommon hormonal data found in this particular case which are not typical for this kind of @PHENOTYPICFEATURE$.	has_symptom
+38c9df7d812734585049959112a3af33b5ec43f6	The authors present two cases of the @DISEASE$ (AIS), one of the cases being distinctive in having a large multicystic @PHENOTYPICFEATURE$ resembling the SCTAT in the immature gonad.	has_symptom
+5ed1cca70e8a261edb16dfc5116a09241bd55deb	The features of the @DISEASE$ and the various @PHENOTYPICFEATURE$ that have been reported in patients with this syndrome are briefly reviewed.	has_symptom
+05711ca79597e4ad8e97f65984063c7719751bc2	@DISEASE$ and associated gonadal @PHENOTYPICFEATURE$ in Denmark.	has_symptom
+dde767b3e539aaf045c89d38b94b03767c457c1a	The median age of @DISEASE$ (AIS) with @PHENOTYPICFEATURE$ was comparatively late [19 (18, 24) years], while GCTs occurred during adolescence in 46, XY PGD [17 (15, 20) years] and mixed GD [15 (15, 17) years].	has_symptom
+9ab28c9c9879ea7b04e75e43177b9d53cf135d28	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @PHENOTYPICFEATURE$.	has_symptom
+94b58e21e94d615c0ddc046a5ce69e280735ba78	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, @PHENOTYPICFEATURE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @DISEASE$.	false
+ccb114d16aa2dc76189cdcaf188e1c4e2b5289c2	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and @DISEASE$.	false
+8620db334957505c46364c9f0f4bdb98625e279e	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by @PHENOTYPICFEATURE$, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @DISEASE$.	false
+9e9b28c543ebdbcf19972ad621c23fb42df39a67	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, @PHENOTYPICFEATURE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	false
+23e4a97ff501cd4da4a4d077c41f9b5d0d74c3db	@DISEASE$ (OS-CS) is a bone dysplasia characterized by @PHENOTYPICFEATURE$, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	false
+357f290783752e9b94d833544f0bf8f4bce09f43	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and mental retardation.	false
+7778657576d5894524a60b9975edc5c1b1319f78	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	has_symptom
+d3faa67eca1a921f6dcbaa047b101df8f2c4c170	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+06d2b09fb6554748ebd2445830649fd717ff2a66	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+87f21baa240141cdaa55c754e78606b1aed8333f	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+1b3ea5c21a9c8310cc7e4bc506dea2decf687672	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+a6cf984ac5bfb03124f48467ea0eb9aaef7075b3	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+2d9676aaf37ffca657ebfb67d5571d7b70fd418a	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+c08c268bc57e5714deefa6843b8f8561eaff4ae7	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @DISEASE$.	false
+b05cf4faaf08830d62d7a807c2ce71bfb7f0e8f2	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @DISEASE$.	false
+605fc487bd39db5a0dd99e0e5929351399cfb573	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @DISEASE$.	false
+923f8c5aab563a950d58b36dcb84af6b97268208	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+922c8e057e15ae4cd8287b3ca316aaf0070e2731	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+66702fa89b8847ed70a3b5544a073bca68181f73	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and @DISEASE$.	false
+d0fd496153be42a286d316945a99b46788e94678	In the sixth treatment week, the patient developed an erythematous rash which after a week of solar exposure, presented temperature, general discomfort, and in the head, on the front and back part of the thoracic and upper and lower limbs, @PHENOTYPICFEATURE$ lesions with scabbed areas, loosening epidermis areas with a positive Nikolsky sign and severe mucous membrane involvement, being diagnostic of @DISEASE$.	has_symptom
+c611673e7ca8add1eeded557a2863cbe82273850	@DISEASE$, a neuroectodermal syndrome with @PHENOTYPICFEATURE$ and microtia: report of a new case.	has_symptom
+7ab2bf855e3d7ba2431a97bafebeb98d37b20c46	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @PHENOTYPICFEATURE$, anosmia/hyposmia, and hypogonadotropic hypogonadism.	has_symptom
+fdbafc99e32b22883a4fe7ad4040516633a8d792	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and @PHENOTYPICFEATURE$.	false
+6a273a590f4b4207d86f3f7acc4a76cf30569ec9	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, @PHENOTYPICFEATURE$/hyposmia, and hypogonadotropic hypogonadism.	false
+b1db8555abf14f1b4e452b75f687329d7b3505a8	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @DISEASE$, @PHENOTYPICFEATURE$/hyposmia, and hypogonadotropic hypogonadism.	false
+7156c9efdebd2205c8a618e875224a182e45d0fd	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @DISEASE$, anosmia/hyposmia, and @PHENOTYPICFEATURE$.	false
+6f1831956e1190e238da1da5be10f5e58daa62c9	@DISEASE$ is characterized by therapy-resistant infantile @PHENOTYPICFEATURE$, developmental delay, acquired microcephaly, spasticity, ataxia, and a low concentration of glucose in the CSF.	has_symptom
+ce9c7995e46ea2221a124a25f37763abb2d51d98	Three infants presenting with @PHENOTYPICFEATURE$ and hypoglycorrhachia at 2, 4, and 6 weeks of age, which suggests @DISEASE$, are reported.	has_symptom
+3e2c068cb7c184e131f05fa93982a060f559f8d9	@DISEASE$ should be suspected in children with epilepsy-like @PHENOTYPICFEATURE$ and delayed development combined with a low content of glucose in spinal fluid.	has_symptom
+e56ba795ad2a66ff3d4dca1a102b0242ea90a21c	@DISEASE$ (Glut-1 DS, OMIM #606777) is characterized by infantile @PHENOTYPICFEATURE$, developmental delay, acquired microcephaly and hypoglycorrhachia.	has_symptom
+fdad07b7e87dae3f407650ee1073232fed5eddf0	An infant with pseudohyperkalemia, hemolysis, and @PHENOTYPICFEATURE$: cation-leaky @DISEASE$ due to a SLC2A1 mutation.	has_symptom
+2bcef0724a7d084c080d5839b2c06b3ac01c8b51	In @DISEASE$, complete @PHENOTYPICFEATURE$ control was achieved in 94 % of patients.	has_symptom
+bf7240fa2f4919f2e3ce3d2234ab48a354c7eda1	Monitoring effects of a ketogenic diet in @DISEASE$ without @PHENOTYPICFEATURE$ is difficult.	has_symptom
+fe05bea8779e70b894d10d8d5d269e1a003e4865	@DISEASE$ was suspected in four infants presenting with @PHENOTYPICFEATURE$ and unexplained hypoglycorrhachia.	has_symptom
+87a8bd4b6247b0d719ea4e60e293db33ff35bc90	Recognizing @DISEASE$ is important, since initiation of a ketogenic diet can reduce the frequency of @PHENOTYPICFEATURE$ and the severity of the movement disorder.	has_symptom
+6f71446394be793f090c018628e8d60c92786de3	Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of @DISEASE$ and the severity of the @PHENOTYPICFEATURE$.	false
+a7aac82113a186d36acc16c58ab55b2c8eeaa6b7	Recognizing @DISEASE$ is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the @PHENOTYPICFEATURE$.	false
+abe78dc23eccae18d128e19d8dc0511282816150	In selected cases, therapy targeting the underlying cause, such as the ketogenic diet for @DISEASE$, may be remarkably effective in ameliorating both @PHENOTYPICFEATURE$ and cognitive concerns.	has_symptom
+8a0cecc516a588288a1623561698e1ad711d531a	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	has_symptom
+1c354f577d92ddd1ba74c918554c84742a8ef355	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	has_symptom
+714df51e8e3f667581ea9bc77d289dd5f5fc4fc3	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent @DISEASE$, periodic confusion, recurrent headaches).	false
+60663af6a9c012efd25f4ecf5913ac186afe02d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+9d4f78e077a40d9fe6770302c7018fae3ccc4f82	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@DISEASE$, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+1275eddc3dc487c920ee77f74759b8d1d9859dc4	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (@DISEASE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8711eb077c69a6d29e48c0153e9f7e18508110df	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+ba480271d2c6ffa8dc24395d9161c71fe6a02d1b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+d81e72f3465007d17b8f40c4a2bdb14aafd4c18e	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8d9c383256eaecc5f35de990021aea84a2cf07d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+6105d2fca3213d4e824b65e2169a64c6791f29ce	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @DISEASE$, periodic confusion, recurrent headaches).	false
+2e092a5e571f12a9b11ac8ef089447a23f8ebc81	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+3fa4967615c1b90e5c1e605c2897244900d38b11	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, @PHENOTYPICFEATURE$ and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	has_symptom
+e834f35d7c221a978e73d0edc3d61e9972e3b5ab	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (@DISEASE$) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+fb07e22a5fbf9dd9425e68564d3f891793021e92	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, @DISEASE$ and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+54f8ca2d7e86c7f6a9a0c64709b491a46bb1c4fc	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe @DISEASE$ delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+deae074a6d621e3d3802785a1d8364793608f0a6	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of @DISEASE$: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+b2ea79e815d33bc842de9a923f42bd058b9462b4	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+1dfb28d145d86b213afde38ce89e60a20fcf3425	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	has_symptom
+d635628469447c1b56b73cb0ab20dde5e9f3122f	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	false
+79d34f30ae8fae128c2e9827f4696f42f3c1908c	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+f0f796303899f457d403f6762dbcb82f359ab045	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	false
+c4ed2802f0500bf44b3f0f255ba08508753a624e	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and @DISEASE$.	false
+ab865dc278b1bb5f70993ed253745fccb0cbd832	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired @DISEASE$ and ataxia.	false
+1742ce9105953e6a324785c5fdaff7f1f723e372	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+4289023646ef2450f20b30157e55d63c8faa4d12	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired @DISEASE$ and ataxia.	false
+034c033ce8cfc4ee4669a40bae93875b5fab5be9	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+ab775548e7bc6c032cf3d4723097e0b88578788d	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	false
+c511dbc8951cd741d0b4062b746744663cd1ecf7	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and @DISEASE$.	false
+d2cc136f71360011c50bf9ea5d7830e61b1b597a	Glucose transporter type 1 deficiency syndrome (@DISEASE$) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	has_symptom
+3ffe2d31493040d6b49c26254edf71c69db2c539	Glucose transporter type 1 deficiency syndrome (@DISEASE$) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	false
+eb143ceec067cc6ef6b49181bdf73543ed0436c5	@DISEASE$ syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	false
+9c0a4c2bf4346549f54bcfa9f429109ebb44637e	Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, @DISEASE$, and ataxia.	false
+f9f6bec5229a2a4479091f72aaa4248b0157d9d7	Glucose transporter type 1 deficiency @DISEASE$ (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	false
+2058173a20575a01d8aff4750ea93a449421a32c	Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and @DISEASE$.	false
+096eff030417139d31a1c6086b47e72389d145ec	This case report describes a 13-year-old boy with a longstanding history of intermittent @PHENOTYPICFEATURE$ who was diagnosed as having @DISEASE$ after the onset of seizures at age 11 years.	has_symptom
+57d73d683175f660e9858195589f252a22f007fb	This case report describes a 13-year-old boy with a longstanding history of intermittent ataxia who was diagnosed as having @DISEASE$ after the onset of @PHENOTYPICFEATURE$ at age 11 years.	false
+d0cdc9e1b07da8ac413a3321b18170b4d5e3bf09	This case report describes a 13-year-old boy with a longstanding history of intermittent @DISEASE$ who was diagnosed as having GLUT1 deficiency syndrome after the onset of @PHENOTYPICFEATURE$ at age 11 years.	false
+79a97f46625134f61d5d5f965ee462d4c15c272e	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @PHENOTYPICFEATURE$, spasticity, and epilepsy.	has_symptom
+a426220af8e89b299b2f328ae898797ac3810b23	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, @PHENOTYPICFEATURE$, and epilepsy.	false
+16adc0a1e31059dfaf5f765c5c30590532963d8d	The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, and epilepsy.	false
+7e9ed64d29cf460f5afc5f98704f8cdf20c76d63	@DISEASE$ is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile seizure, acquired microcephaly, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+230d0be7b827ed673ae83933097fdcdd61b67c75	Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile @PHENOTYPICFEATURE$, acquired microcephaly, developmental delay and @DISEASE$.	false
+aaee23dae72c52d66e95cff7d48ea0ecfcddb2b8	Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile @PHENOTYPICFEATURE$, acquired @DISEASE$, developmental delay and ataxia.	false
+cb762814fea7ba55275e53ed305a857fc80d0087	@DISEASE$ is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile @PHENOTYPICFEATURE$, acquired microcephaly, developmental delay and ataxia.	false
+c6d80034985bc15250be00db1e3c5a7b5fe5580b	@DISEASE$, progressive external ophthalmoplegia with or without limb myopathy, @PHENOTYPICFEATURE$-neuropathy syndrome, and epilepsy are frequent clinical manifestations of the POLG1-related disease.	has_symptom
+47262aadf992da25b1f7934bc132c70f48e31c32	Our data predict that these mutations are common causes of @PHENOTYPICFEATURE$ and @DISEASE$ in the Western world.	has_symptom
+09f62eac598647f9384446d970a05a1456836c6c	Peripheral @PHENOTYPICFEATURE$ is reported in a juvenile case of @DISEASE$ (AHD).	has_symptom
+35776b4d761a5f666d96bc75c8c48921a3221971	Peripheral @PHENOTYPICFEATURE$ is reported in a juvenile case of Alpers-Huttenlocher disease (@DISEASE$).	has_symptom
+f4497ac3066fa28e803ab6aa42c4eb7ce3878c58	We believe interneuron and Purkinje cell pathology underpins the clinical development of seizures and @PHENOTYPICFEATURE$ seen in @DISEASE$.	has_symptom
+eb12f6bbecca9b12f769396e7de8e58387591080	We believe interneuron and Purkinje cell pathology underpins the clinical development of @PHENOTYPICFEATURE$ and ataxia seen in @DISEASE$.	false
+f4b38c0e0d63268c28c1a203313c83338e9151f3	We believe interneuron and Purkinje cell pathology underpins the clinical development of @PHENOTYPICFEATURE$ and @DISEASE$ seen in Alpers' syndrome.	false
+8fe8f8c57a68e4e53d7cf0a7dbb034b7fd974f48	Mutations in POLG are a major cause of mitochondrial disorders including hepatic insufficiency, @DISEASE$, progressive external ophthalmoplegia, sensory neuropathy and @PHENOTYPICFEATURE$.	has_symptom
+3770680f96f2214b3753b0ecd1ca04f412464c96	Mutations in POLG are a major cause of mitochondrial disorders including hepatic insufficiency, @DISEASE$, progressive external ophthalmoplegia, @PHENOTYPICFEATURE$ and ataxia.	false
+846f5f6348dc08f4fa5c613d7fa1bc55bee8ddfa	Mutations in POLG are a major cause of mitochondrial disorders including hepatic insufficiency, Alpers syndrome, progressive external ophthalmoplegia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2145eda860592eaa74c4a7fa2d9845cbfe074ee9	Mutations in POLG are a major cause of mitochondrial disorders including @DISEASE$ insufficiency, Alpers syndrome, progressive external ophthalmoplegia, @PHENOTYPICFEATURE$ and ataxia.	false
+e4ac9e19deb0af57bffbc04f4c702bd132a5e8e6	Infantile @DISEASE$ and adulthood @PHENOTYPICFEATURE$ spectrum were the most common found in our group.	has_symptom
+4ae5f28dcd5ac115dc8505f904ee734fd86e7329	MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-@PHENOTYPICFEATURE$ and epilepsy (SCAE) or infantile @DISEASE$.	has_symptom
+d1cb86e4c76a1f94ad8628d0137a8d2b02a355e7	Common phenotypes associated with POLG1 mutations include @DISEASE$, @PHENOTYPICFEATURE$-neuropathy syndrome, and progressive external ophthalmoplegia (PEO).	has_symptom
+b06e43e02e7f97b2512d1533db37c101435235fd	About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as @DISEASE$, progressive external ophthalmoplegia, and @PHENOTYPICFEATURE$-neuropathy syndromes.	has_symptom
+5a95de66f1904e8fa50b40035727f57492a36892	The clinical features in 6 of the children included psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and @PHENOTYPICFEATURE$ compatible with @DISEASE$.	has_symptom
+615f56a238d1640846d52ebd50cad9d8a503e8ac	The clinical features in 6 of the children included psychomotor regression, refractory @PHENOTYPICFEATURE$, stroke-like episodes, hepatopathy, and ataxia compatible with @DISEASE$.	false
+5be8c33191ead86bea69be82bad0760495c1d628	The clinical features in 6 of the children included psychomotor regression, refractory @PHENOTYPICFEATURE$, stroke-like episodes, hepatopathy, and @DISEASE$ compatible with Alpers-Huttenlocher syndrome.	false
+096da24cb5d41a9d60a2c9b55dc3eba194839f7b	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder characterized by disproportionate short stature, brain malformations, and dysmorphic features in affected males.	has_symptom
+03a7454eb101c9e24cafd3804bb264ca9d299a9c	@DISEASE$ is an intellectual disability disorder characterized by @PHENOTYPICFEATURE$, brain malformations, and dysmorphic features in affected males.	false
+d3e6960e2d07cb697ad716829cdcb52284617755	CK syndrome is an @DISEASE$ disorder characterized by @PHENOTYPICFEATURE$, brain malformations, and dysmorphic features in affected males.	false
+e68aa0e557bec395234333b5a07dbf0c781945eb	CK syndrome is an intellectual disability disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic features in affected males.	false
+1d6195f8e1031e190c689e7f277a5adbfdf46f94	Rare, hypomorphic NSDHL mutations are also associated with X-linked @PHENOTYPICFEATURE$ in males with @DISEASE$.	has_symptom
+1d1114326a5bd2b0512512143f9c360f66b78ffc	@DISEASE$ (CKS) is an X-linked recessive @PHENOTYPICFEATURE$ syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build.	has_symptom
+8e8bb7810dd821a8621a83d3c953488eb71410cc	The Allan-Herndon-Dudley syndrome (@DISEASE$) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, @PHENOTYPICFEATURE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	has_symptom
+51e8227a235efcc484f5d0d7d3954597a1399483	The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe @PHENOTYPICFEATURE$, muscle hypotonia, and spastic @DISEASE$, in combination with disturbed thyroid hormone (TH) parameters.	false
+443d95652b4e540b080d8b29fb3078ab06673556	The Allan-Herndon-Dudley syndrome (@DISEASE$) is an X-linked psychomotor retardation characterized by delayed development, severe @PHENOTYPICFEATURE$, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+a732efcae8bc3b79052e2245b7305aac8382a124	The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe @PHENOTYPICFEATURE$, @DISEASE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+c88cb880ae56357186b7afc16cf0133097f3264f	The @DISEASE$ (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe @PHENOTYPICFEATURE$, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+a16cb7862e4a0a746b27e4981f741349f1262cf4	@DISEASE$, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable @PHENOTYPICFEATURE$, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway.	has_symptom
+faffff926cd1c8fefb88bc006d0b8d3d14ead78b	@DISEASE$, a developmental disorder characterized by @PHENOTYPICFEATURE$, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway.	false
+319507ef3c15d8da3b32680217d96c3fdd3ecf34	Noonan syndrome, a developmental disorder characterized by @PHENOTYPICFEATURE$, reduced growth, facial dysmorphism and variable @DISEASE$, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway.	false
+ab8757a0a589b0967d516a98aa6d68459deff467	@DISEASE$ is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable @PHENOTYPICFEATURE$.	has_symptom
+b5935995a898b80822658c34bc72556252339c79	@DISEASE$ is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive @PHENOTYPICFEATURE$, cardiac defects and variable cognitive deficits.	false
+70fae7cc78229f6f4baa9dad9886fc6f444264ed	Noonan syndrome is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive @PHENOTYPICFEATURE$, cardiac defects and variable @DISEASE$.	false
+a53cb1e93ae61670fe8c751bfad6276f938e9b36	? @DISEASE$ is a common genetically heterogeneous disorder of autosomal dominant inheritance characterized by craniofacial dysmorphism, short stature, congenital heart defects, variable @PHENOTYPICFEATURE$, and other anomalies.	has_symptom
+67eb041a1162b30dda9bafafc368338a0dea91a9	? Noonan syndrome is a common genetically heterogeneous disorder of autosomal dominant inheritance characterized by craniofacial dysmorphism, short stature, @PHENOTYPICFEATURE$, variable @DISEASE$, and other anomalies.	false
+95b51bb65a87c7a3bc2dd1492cf0bb30d2ff0d24	? Noonan syndrome is a common genetically heterogeneous disorder of autosomal dominant inheritance characterized by craniofacial dysmorphism, @PHENOTYPICFEATURE$, congenital heart defects, variable @DISEASE$, and other anomalies.	false
+1f269c71bb94eb192df2c42767e84a6886638abe	? @DISEASE$ is a common genetically heterogeneous disorder of autosomal dominant inheritance characterized by craniofacial dysmorphism, @PHENOTYPICFEATURE$, congenital heart defects, variable cognitive deficit, and other anomalies.	false
+8274548a89acb2a9a2e1bdfdfff6af281860cd7b	? @DISEASE$ is a common genetically heterogeneous disorder of autosomal dominant inheritance characterized by craniofacial dysmorphism, short stature, @PHENOTYPICFEATURE$, variable cognitive deficit, and other anomalies.	false
+63edb33fd9e4cd89451185ee8bf0b581a5f911b2	@DISEASE$ (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable @PHENOTYPICFEATURE$.	has_symptom
+12f46bc0837670922ef96be891533877cb6d340a	@DISEASE$ (NS) is characterized by reduced growth, craniofacial abnormalities, @PHENOTYPICFEATURE$, and variable cognitive deficits.	false
+25fc7227a0c95be824031b339d8fdeff1f884f61	Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, @PHENOTYPICFEATURE$, and variable @DISEASE$.	false
+f071a5f826c4948f156cf3ac07d8db64b057d0b2	Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes @DISEASE$ (NS), a developmental disorder whose major features include a distinctive facies, a wide spectrum of cardiac defects, short stature, variable @PHENOTYPICFEATURE$, and predisposition to malignancies.	has_symptom
+1ad4654514a03efcb58d3975889def4a43ca3d28	Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes Noonan syndrome (NS), a developmental disorder whose major features include a distinctive facies, a wide spectrum of cardiac defects, @PHENOTYPICFEATURE$, variable @DISEASE$, and predisposition to malignancies.	false
+43273b739fcd31a2a4fd0119b38953204a706729	Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes @DISEASE$ (NS), a developmental disorder whose major features include a distinctive facies, a wide spectrum of cardiac defects, @PHENOTYPICFEATURE$, variable cognitive impairment, and predisposition to malignancies.	false
+551beb5260bb897897c756bdf36162a6e75ca5a8	The paper also reviews previous reports of neurological associations with @DISEASE$, the commonest being mild @PHENOTYPICFEATURE$ and ptosis.	has_symptom
+501f19c08f195158356a2a1fa493ca9c0610a84b	The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild @DISEASE$ and @PHENOTYPICFEATURE$.	false
+04df43597661f66dfe01d88b145e6982446afbdb	The paper also reviews previous reports of neurological associations with @DISEASE$, the commonest being mild intellectual impairment and @PHENOTYPICFEATURE$.	false
+c9af6dd8c1560e67d2f05db52c6a694a69e5fdc2	@DISEASE$ (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable @PHENOTYPICFEATURE$.	has_symptom
+48c218f42efe87c41a722db44fb0d05b41022de0	@DISEASE$ (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive @PHENOTYPICFEATURE$, cardiac defects and variable cognitive deficits.	false
+abdfa16c52d1017284651635fdedab7bc7bea566	Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive @PHENOTYPICFEATURE$, cardiac defects and variable @DISEASE$.	false
+60663af6a9c012efd25f4ecf5913ac186afe02d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	has_symptom
+f1099313faaf184b1910e6ec72e9ee43e03479f5	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+668576c9f7266ff38b29d5af576e6fb9e41281fd	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8711eb077c69a6d29e48c0153e9f7e18508110df	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+9f32c1b7d76f6b876850e9eb92427412c5c8a15b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+30a77fcb4a061f1e4f0157e07360c8cca1adff96	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, @DISEASE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+1c354f577d92ddd1ba74c918554c84742a8ef355	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+d81e72f3465007d17b8f40c4a2bdb14aafd4c18e	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+80d0b1822b8fd64256655b4a497384187b410941	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+8d9c383256eaecc5f35de990021aea84a2cf07d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+4251dc11d0e687401f80debd158bb20397a7cfd1	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @DISEASE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8a0cecc516a588288a1623561698e1ad711d531a	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+82a36eba222ca9b9d264a8796f15c79cf720b7c1	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @DISEASE$); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+d635628469447c1b56b73cb0ab20dde5e9f3122f	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	has_symptom
+f16e6d19dc8b25d63c0398926a75af1c4f32708a	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+e95142ae54de21cc108e4a69af1e6485aaa1411b	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, acquired microcephaly and ataxia.	false
+00a83a1b68730ad6554915adb45ad7ded173acca	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired @DISEASE$ and @PHENOTYPICFEATURE$.	false
+79d34f30ae8fae128c2e9827f4696f42f3c1908c	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+1dfb28d145d86b213afde38ce89e60a20fcf3425	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+8a51d82c6296a496a0bab7ea12988bf1ae6820f1	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @DISEASE$, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+1742ce9105953e6a324785c5fdaff7f1f723e372	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+4289023646ef2450f20b30157e55d63c8faa4d12	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired @DISEASE$ and ataxia.	false
+034c033ce8cfc4ee4669a40bae93875b5fab5be9	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+d11dfe996774169481733c60e03b6761eaabccb0	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+a426220af8e89b299b2f328ae898797ac3810b23	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+79a97f46625134f61d5d5f965ee462d4c15c272e	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @PHENOTYPICFEATURE$, spasticity, and epilepsy.	false
+2876ee35860556d734342dc263083c2c487506c4	The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, and epilepsy.	false
+5ab3b0905e48364d34d47a4dd0971cd1185686f5	The UPF3B gene, implicated in intellectual disability, @DISEASE$, ADHD and @PHENOTYPICFEATURE$ schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.	has_symptom
+0e9b257aa5bdd009bcfee75c67737909ac06b5ae	The UPF3B gene, implicated in intellectual disability, autism, ADHD and @DISEASE$ @PHENOTYPICFEATURE$ regulates neural progenitor cell behaviour and neuronal outgrowth.	false
+d3516e4c786e0df40dc49b166e79c999fef22a8b	The UPF3B gene, implicated in intellectual disability, @DISEASE$, ADHD and childhood onset @PHENOTYPICFEATURE$ regulates neural progenitor cell behaviour and neuronal outgrowth.	false
+c481e0c641dcbbbf3ad3dce43a3dd82f6802e7b6	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), @DISEASE$, @PHENOTYPICFEATURE$ schizophrenia and attention deficit hyperactivity disorder.	has_symptom
+1c62c861131114113890955f242af3f01ef21900	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (@DISEASE$, syndromic and non-syndromic), autism, childhood onset @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder.	false
+112b1040ee923142302de7e4dfd461212b2891ee	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), autism, @DISEASE$ @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder.	false
+d46c094c6e31686f4a4f0a2d5b10fba3f39abc7c	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), autism, @DISEASE$ schizophrenia and @PHENOTYPICFEATURE$.	false
+d1eb6c81ed2f86f05c51e4335d3181690d6d2c40	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, @DISEASE$ and non-syndromic), autism, childhood onset schizophrenia and @PHENOTYPICFEATURE$.	false
+b0d2be829117cf11dee0d350b967dfd976d66ff0	Loss-of-function mutations in UPF3B result in variable clinical presentations including @PHENOTYPICFEATURE$ (ID, @DISEASE$ and non-syndromic), autism, childhood onset schizophrenia and attention deficit hyperactivity disorder.	false
+56b36938a668ad33b8c9a81ca3777c8cb6481676	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), @DISEASE$, childhood onset @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder.	false
+7d98e4a38002f5609b62b6d6f1ff6534ccdc4f10	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, @DISEASE$ and non-syndromic), autism, childhood onset @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder.	false
+5fe2fc7e09b68d781476924693938a30a83667c1	Loss-of-function mutations in UPF3B result in variable clinical presentations including @PHENOTYPICFEATURE$ (ID, syndromic and non-syndromic), @DISEASE$, childhood onset schizophrenia and attention deficit hyperactivity disorder.	false
+9c1f50b7f3f033fc898f2189fb2f13eb8e63f5b6	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), @DISEASE$, childhood onset schizophrenia and @PHENOTYPICFEATURE$.	false
+633dc8d11963061ef9f40d2f0439daeaf1a32715	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (@DISEASE$, syndromic and non-syndromic), autism, childhood onset schizophrenia and @PHENOTYPICFEATURE$.	false
+ed90ea4d63622f075f7b283782f4aae67fb8e412	Loss-of-function mutations in UPF3B result in variable clinical presentations including @PHENOTYPICFEATURE$ (@DISEASE$, syndromic and non-syndromic), autism, childhood onset schizophrenia and attention deficit hyperactivity disorder.	false
+6fa35b4e257ea37321625833fb3e8708b7194849	Loss-of-function mutations in UPF3B result in variable clinical presentations including @PHENOTYPICFEATURE$ (ID, syndromic and non-syndromic), autism, @DISEASE$ schizophrenia and attention deficit hyperactivity disorder.	false
+17aaaed78eecfa6e4272d66d001791dbd45685a6	We report a case of a premature neonate girl with scalp and skull defects and @PHENOTYPICFEATURE$ of the feet consistent with an Adams-Oliver syndrome (@DISEASE$).	has_symptom
+47b984a502da9935875628a2cc85ca564ea2790c	To compare the difference between primary @DISEASE$ (PRTA) and Fanconi syndrome (FS), and to find out possible risk factors for @PHENOTYPICFEATURE$, we studied the long-term growth, clinical, laboratory, and radiological findings associated with the treatment of six children with primary FS and 15 children with PRTA.	has_symptom
+5fd2c869cca970708619a9ded4ce0f8edb031d2a	Mutations in SLC4A4, the gene encoding the electrogenic Na(+)-HCO3(-) cotransporter NBCe1, cause severe @DISEASE$ (pRTA), @PHENOTYPICFEATURE$, decreased IQ, and eye and teeth abnormalities.	has_symptom
+4296377411bf3fd0101df9bd3842d2800c20ad0a	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	has_symptom
+3bec00c0f1527354b9c5362c847883c6f1492030	Endocrine abnormalities (e.g., diabetes, @DISEASE$/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+ec1dfed78d6e7aace4716864ff5840020ce93362	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+5be720130ed7e0baf17804448a9626e7448c2954	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+99b05584c4c025a6f669de7f87eb69378f0e7a1e	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+d0488da8d15e25fb2a9caf74a996f6a46594265d	Endocrine abnormalities (e.g., diabetes, @DISEASE$/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+504baf8d77d8489e46ddbad84c759eaa51817c6b	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+f98cb9a22e52b77bdaf8ff65b44b914171180ec9	Endocrine abnormalities (e.g., diabetes, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+0e8e63c0d798ad08f81b72f5812318d14f050b22	Endocrine abnormalities (e.g., diabetes, @DISEASE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+4516b0cced4262483ab1ad93d3da9701315aefef	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral @DISEASE$, dementia, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+bc37c6ed8a62d4f038aabc5522308c75c8b71ebd	Endocrine abnormalities (e.g., diabetes, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+d1b116bb6d45fd537d0f83f30c121d62d033cb9b	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+534c025f4ef76b6e7daf11b570fdaa6305688bdc	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+c546d2b7894873c0b271dc6f7d39623aff0aad50	Targeted COL1A1 screening of 26 additional patients detected three further heterozygous variants (p.Arg253*, p.Gly767Ser and p.Gly154Val) in three distinct subjects: two of them diagnosed with early onset @PHENOTYPICFEATURE$ and mild form of @DISEASE$ (OI), one patient with a diagnosis of PCG at age 4?years.	has_symptom
+e2eda84fa1f94193f8014ae7ef449de8d8b8f3d6	Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+86c370bf81904c1a1103644a35d7fee7b8e6896f	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and @PHENOTYPICFEATURE$.	has_symptom
+ece0c62427369f8371e2c419b54c8e7a21606733	The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of @PHENOTYPICFEATURE$, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and @DISEASE$.	false
+243b99bd2858682b3c0ca439ed4eb764a0c58ad2	The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-@PHENOTYPICFEATURE$ with a flat nasal bridge, small upturned nasal tip, and @DISEASE$.	false
+90c3902e64c147bfcbbb7bcb630567a155fd8c8f	The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a @PHENOTYPICFEATURE$ with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and @DISEASE$.	false
+5ea7b44e5be455b0318a64019508d2c64fc77f9a	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of @PHENOTYPICFEATURE$, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+6696ed6a312844bf2892de3004ca8314f9179e26	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a @PHENOTYPICFEATURE$ with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+c08ce139afb3e97e66e8480fda952a574856a226	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-@PHENOTYPICFEATURE$ with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+6dcb5e15e07e6a62082e584daf3a0f92142bb2e2	Visual impairment is present in almost all patients with @DISEASE$ (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and @PHENOTYPICFEATURE$ movements.	has_symptom
+aff38fbbc5361714662ef54fcc094a19242d30ba	@PHENOTYPICFEATURE$ is present in almost all patients with @DISEASE$ (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and oculomotor abnormal movements.	false
+1b5d78a35a08c92b6371dba2525dd8603dbe1102	@PHENOTYPICFEATURE$ is present in almost all patients with ataxia telangiectasia (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and @DISEASE$ movements.	false
+813a52363ad7840e88615e16e30d9c6d0119d464	@DISEASE$ is a recessive disorder in which patients show a progressive cerebellar degeneration leading to ataxia, @PHENOTYPICFEATURE$ and deterioration of speech.	has_symptom
+c86e81e83c891011a4955a75a493928a476bce5e	Ataxia telangiectasia is a recessive disorder in which patients show a progressive @DISEASE$ leading to @PHENOTYPICFEATURE$, abnormal eye movements and deterioration of speech.	false
+e81128b52a42c8ed47324875cb80d5d5794313b7	Ataxia telangiectasia is a recessive disorder in which patients show a progressive cerebellar degeneration leading to @PHENOTYPICFEATURE$, @DISEASE$ and deterioration of speech.	false
+a5aa205a7cecf8a8dcd53cbb566327c5ab9bc99c	@DISEASE$ is a recessive disorder in which patients show a progressive cerebellar degeneration leading to @PHENOTYPICFEATURE$, abnormal eye movements and deterioration of speech.	false
+f92b9e3b50525742218af32a560d16cb3acbac62	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	has_symptom
+2a186db839a7f7d9333908f0d7c8539126979e12	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+ec29f53fe4a3a41a5109acabf57a164b7bfd737a	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting @DISEASE$, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+7b450c73a91683f060a9cd1ec01891265d86b65a	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, @DISEASE$, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+c40aedd917677d620031a461fa671c15df0ca918	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+13e0e07f7c452f9c5729ecc6233b74af501cf9e8	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting @DISEASE$, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+33feb7bc0a77e1ffe29932ccb0dbb6a9616adeb2	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, @DISEASE$, hyperuricemia, and lactic acidemia.	false
+26eaca481f92b7716a3a1f6a3cef7980ba623922	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	has_symptom
+366c96b01d96be8d4640db7c47e4af721674fc29	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, @DISEASE$, hyperuricemia, and lactic acidemia.	false
+775ddc7e2a69d62146deec1c4f2b4e6df295cf87	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+f2b10832a233780cc420c34ffdfa50ead2492f81	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+e56db6dcd79d3eebafcfde717fcf8ca7337effa1	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+34122a9f406c1260a2b4837dd3368cbbbd668d06	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+35b2b440396926dd0c4cfd91726dbb19da58548c	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+9861cdb7a92f3387fdfcbe4576193b51fd7d14df	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @DISEASE$, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+7ca14caa676cd75da09fcdb267513fcf6fcd8985	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+6b32780ce3dd2902386873200f233cd686e18b64	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, @DISEASE$, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+4018814a08cb7ad88c1f5e2a5492d2ce996cde13	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+a6d8359bdd0df911d4397e9b74737a5cbd90e05d	@DISEASE$ (GSD-1a), characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, @PHENOTYPICFEATURE$, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	has_symptom
+e0b95da6307f629c27ae5c0525683cee2414469f	Glycogen storage disease type 1a (GSD-1a), characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, kidney enlargement, @DISEASE$, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+558d79200458615d29b0383f3f57a532c89f3f8f	@DISEASE$ (GSD-1a), characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, kidney enlargement, hyperlipidemia, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+4d47f6cce18f01db4a84668f00162b9082f70744	@DISEASE$ (GSD-1a), characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, hyperlipidemia, @PHENOTYPICFEATURE$, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+27df98e3e51bf524c2527944a4005500031bb824	Glycogen storage disease type 1a (GSD-1a), characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, @DISEASE$, @PHENOTYPICFEATURE$, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+2343b47acb7072471c3f455745ba858ba2ae1a54	Glycogen storage disease type 1a (GSD-1a), characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, kidney enlargement, hyperlipidemia, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+181a9cca0de09eca2d294c6dc6daf0d3fa87e5fb	Glycogen storage disease type 1a (GSD-1a), characterized by growth retardation, @DISEASE$, hepatomegaly, kidney enlargement, hyperlipidemia, @PHENOTYPICFEATURE$, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+148ec557ad6b59a061ce52707cda1538d8b38f70	Patients with @DISEASE$ (GSD Ia) and III (GSD III) do not develop premature atherosclerosis despite @PHENOTYPICFEATURE$.	has_symptom
+8e83033a12ddb100d0d17f9ea072e9a5b0a11253	@DISEASE$ (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, @PHENOTYPICFEATURE$, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	has_symptom
+6cd303a8fa9b7f92a9414cfcaaebe2d4098acd6e	Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, @DISEASE$, and @PHENOTYPICFEATURE$, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+8e8687971a90ceebc4d863dd07850d870785d5b6	Glycogen storage disease type 1a (GSD-1a), characterized by @DISEASE$, liver and kidney enlargement, growth retardation, hyperlipidemia, and @PHENOTYPICFEATURE$, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+0ef8131939544b3d4bc8039f95f076fd49e53eae	Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, @PHENOTYPICFEATURE$, @DISEASE$, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+e838faaeaa6928f507788d3703eaa5bae1229ff4	Glycogen storage disease type 1a (GSD-1a), characterized by @DISEASE$, liver and kidney enlargement, @PHENOTYPICFEATURE$, hyperlipidemia, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+99c2579e1bce572d7c82a08c3ba6fab2bdb82c48	@DISEASE$ (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, hyperlipidemia, and @PHENOTYPICFEATURE$, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+5c0e7d594a6da1689679f5827e976db2856560cf	@DISEASE$ (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, @PHENOTYPICFEATURE$, hyperlipidemia, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+b16ab6320cdc02a7bf7b29d05dc11dce1388f6cb	@DISEASE$ is a rare condition with cutaneous manifestations commonly including angiomas, @PHENOTYPICFEATURE$, hyperpigmentation, and thickening of the skin.	has_symptom
+db51fd5eb1c6e363ca4b6013a54ab0f57e166f08	The patient had bed-bound polyneuropathy, splenomegaly, IgM-? type monoclonal (M) protein, elevated ?-type free light chain (FLC), infiltration of CD20-positive lymphoplasmacytic cells in bone marrow, edema and @PHENOTYPICFEATURE$, and was diagnosed to have an 'atypical' @DISEASE$ associated with macroglobulinemia.	has_symptom
+e776a98a3393a581307cedd3fb6cf69157662004	The patient had bed-bound polyneuropathy, splenomegaly, IgM-? type monoclonal (M) protein, elevated ?-type free light chain (FLC), infiltration of CD20-positive lymphoplasmacytic cells in bone marrow, @PHENOTYPICFEATURE$ and hypertrichosis, and was diagnosed to have an 'atypical' @DISEASE$ associated with macroglobulinemia.	false
+e19f002c201ea05865c145b7cd3f3879a3641ab0	The patient had bed-bound polyneuropathy, splenomegaly, IgM-? type monoclonal (M) protein, elevated ?-type free light chain (FLC), infiltration of CD20-positive lymphoplasmacytic cells in bone marrow, @PHENOTYPICFEATURE$ and hypertrichosis, and was diagnosed to have an 'atypical' POEMS syndrome associated with @DISEASE$.	false
+19a87a538e25317ec049a1477b5e04ce47f0e907	The patient had bed-bound @DISEASE$, splenomegaly, IgM-? type monoclonal (M) protein, elevated ?-type free light chain (FLC), infiltration of CD20-positive lymphoplasmacytic cells in bone marrow, @PHENOTYPICFEATURE$ and hypertrichosis, and was diagnosed to have an 'atypical' POEMS syndrome associated with macroglobulinemia.	false
+5c03fbab6fa04f5c886cd9a696416eb2d195f9e9	The patient had bed-bound polyneuropathy, splenomegaly, IgM-? type monoclonal (M) protein, elevated ?-type free light chain (FLC), infiltration of CD20-positive lymphoplasmacytic cells in bone marrow, @PHENOTYPICFEATURE$ and @DISEASE$, and was diagnosed to have an 'atypical' POEMS syndrome associated with macroglobulinemia.	false
+d43e70c8783d04c1a04df03ca96af640d5e70260	We assume that the polyneuropathy, cutaneous hyperpigmentation, edema, @PHENOTYPICFEATURE$, gynecomastia, and white nails are causally related to each other and are a remote effect of @DISEASE$.	has_symptom
+aee48ee891a37d1f428e9fa11dd4dbab35a8e802	We assume that the @DISEASE$, @PHENOTYPICFEATURE$, edema, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+f0d71cd08a9bee0796d777f6a23cea18b1c9099c	We assume that the polyneuropathy, @PHENOTYPICFEATURE$, edema, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of @DISEASE$.	false
+6a287ddd1376e8c779ef6527eab5eb02fb0015d2	We assume that the @DISEASE$, cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+2d7baa64965f3622cc305e5171959c010e3eacc0	We assume that the polyneuropathy, cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, @DISEASE$, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+4e88014963714b84737b452e69664f44f26538c5	We assume that the polyneuropathy, cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails are causally related to each other and are a remote effect of @DISEASE$.	false
+960c328e2929262d10d7fc53abc8d501fac28940	We assume that the polyneuropathy, @PHENOTYPICFEATURE$, edema, @DISEASE$, gynecomastia, and white nails are causally related to each other and are a remote effect of osteosclerotic myeloma.	false
+82491218ede5b210bd08ff3408a6495de101a268	1 61-year-old man had @DISEASE$ that was localized in the eleventh thoracic vertebral body and associated with sensorimotor polyneuropathy, skin hyperipigmentation, edema, @PHENOTYPICFEATURE$, gynecomastia, and white nails.	has_symptom
+ba5bfcda7222eefcda107ae5ab9c43956f440434	1 61-year-old man had osteosclerotic myeloma that was localized in the eleventh thoracic vertebral body and associated with sensorimotor polyneuropathy, skin hyperipigmentation, @PHENOTYPICFEATURE$, @DISEASE$, gynecomastia, and white nails.	false
+0e2acd175bbe280dd5ef3ee285f5b16668d3d873	1 61-year-old man had osteosclerotic myeloma that was localized in the eleventh thoracic vertebral body and associated with sensorimotor @DISEASE$, skin hyperipigmentation, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails.	false
+53b39c4a09ebe64a2a24d39cc52430b1f4c06dc1	1 61-year-old man had @DISEASE$ that was localized in the eleventh thoracic vertebral body and associated with sensorimotor polyneuropathy, skin hyperipigmentation, @PHENOTYPICFEATURE$, hypertrichosis, gynecomastia, and white nails.	false
+7894024230959945844bd4608992a1f8e6c62efa	Regarding the cutaneous and laboratory findings, the existence of hemangioma or @PHENOTYPICFEATURE$ is indicative of @DISEASE$.	has_symptom
+32d71a968021626cb9d0d194f8115f0db963cf83	@DISEASE$ was diagnosed on the basis of findings of polyneuropathy, hepatomegaly, monoclonal hypergammaglobulinemia, and @PHENOTYPICFEATURE$.	has_symptom
+0fe0c57de4c4db20c313066d0dde626fdff11899	We experienced a 47-year-old Japanese female with polyneuropathy, edema, @PHENOTYPICFEATURE$, hyperpigmentation, and white nail, which were diagnostic as having @DISEASE$.	has_symptom
+3cbdfb239f6d5f9d672c43ad873e917beae07462	We experienced a 47-year-old Japanese female with @DISEASE$, @PHENOTYPICFEATURE$, hypertrichosis, hyperpigmentation, and white nail, which were diagnostic as having Crow-Fukase syndrome.	false
+e0201f7abf8490d02d16843e80cf6b78bd2cc48a	We experienced a 47-year-old Japanese female with polyneuropathy, @PHENOTYPICFEATURE$, hypertrichosis, hyperpigmentation, and white nail, which were diagnostic as having @DISEASE$.	false
+cf3ba87979ae89325e83c481cecabf621176e8b3	We experienced a 47-year-old Japanese female with polyneuropathy, @PHENOTYPICFEATURE$, @DISEASE$, hyperpigmentation, and white nail, which were diagnostic as having Crow-Fukase syndrome.	false
+79fb7828c96187626c42392ffd6ca5eb73e14b76	We report a 29-month-old girl with @DISEASE$ (OS-CS), who showed several unusual manifestations, including short stature, @PHENOTYPICFEATURE$, short lingual frenulum, an accessory ear and a granuloma at the oral edge.	has_symptom
+5768fa3d8b3537cb9116ae48ca974b1076dd8420	We report a 29-month-old girl with @DISEASE$ (OS-CS), who showed several unusual manifestations, including @PHENOTYPICFEATURE$, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge.	false
+65d71161c64d4b68c4dc94152c8723f663d23a02	We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including @PHENOTYPICFEATURE$, @DISEASE$, short lingual frenulum, an accessory ear and a granuloma at the oral edge.	false
+43fa092a8a12d91a419fa425b0a576d0adb6474e	The main clinical features are multiple exostoses, enlarged parietal foramina, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+b4b69420606e5f9b17bd70a7bb6e54adbcdaa9e3	It is suggested that she is an example of a true multiple congenital anomaly-@PHENOTYPICFEATURE$ syndrome rather than an example of @DISEASE$ with additional anomalies.	has_symptom
+f20198d86bb046dc9afafe476d268702d8ef6eff	The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of @DISEASE$ (Crouzon's disease) with complications including optic nerve atrophy, divergent squint in 4 children and borderline @PHENOTYPICFEATURE$ in 3 of these children.	has_symptom
+1d70b6cb661d58cd544f8f72aa9fbc3a29172f66	The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of @DISEASE$ (Crouzon's disease) with complications including @PHENOTYPICFEATURE$, divergent squint in 4 children and borderline mental retardation in 3 of these children.	false
+eaff51cdac2f3a90b9ebacfcf0323eda6e1fa043	The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of craniofacial dysostosis (Crouzon's disease) with complications including @PHENOTYPICFEATURE$, divergent squint in 4 children and borderline @DISEASE$ in 3 of these children.	false
+17f9e3ebb7d5b133e186721e12e6b93e118e0f6d	All of them had mild to severe degree of @DISEASE$ of Crouzon type with variable degrees of exorbitism (pseudoexophthalmus), raised intracranial pressure and @PHENOTYPICFEATURE$.	has_symptom
+7a56f8c13273d1141862ebb2cb3abe351cac7c38	@DISEASE$ should be managed as early as possible as it results in airway obstruction, decreased vision, @PHENOTYPICFEATURE$ and poor cosmetic appearance.	has_symptom
+cc5095fe29f7a7c2d42d36e59f598e3769f3ac61	Furthermore, it suggests that the gene for isolated foramina parietalie permagna and genes associated with @DISEASE$ and @PHENOTYPICFEATURE$ reside in the same chromosomal region.	has_symptom
+34c0481c557772f1ff57986a27efb551c1a584f5	Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, @DISEASE$, and @PHENOTYPICFEATURE$, caused by deletions in the short arm of chromosome 11.	has_symptom
+f6a65eb192b3384610b791e093cc67241a6ea347	In syndromic cases, the risk of intracranial hypertension is higher in @DISEASE$, and Apert syndrome carries the higher risk of @PHENOTYPICFEATURE$.	has_symptom
+4802733016be1055216da9b6c0025767ae1f244b	Studies of malformation syndromes of man XXXIX: a craniosynostosis-@DISEASE$ syndrome with @PHENOTYPICFEATURE$ and other malformations: "craniofacial dyssynostosis".	has_symptom
+cf2f256864c9bda7ce58ead8373dd67e5244b229	@DISEASE$ (SCA2) is a progressive neurodegenerative disorder, characterised by @PHENOTYPICFEATURE$, slow saccades and peripheral neuropathy.	has_symptom
+92cac64455eef5b3140a76c25a41414831682701	Spinocerebellar ataxia type 2 (SCA2) is a @PHENOTYPICFEATURE$ disorder, characterised by @DISEASE$, slow saccades and peripheral neuropathy.	false
+d7f303370c46a285e7a0d027e1aee46549a68a0c	@DISEASE$ (SCA2) is a progressive neurodegenerative disorder, characterised by ataxic gait, slow saccades and @PHENOTYPICFEATURE$.	false
+156b1947565af8a1b7a65b7821d8f928d1f7d308	@DISEASE$ (SCA2) is a @PHENOTYPICFEATURE$ disorder, characterised by ataxic gait, slow saccades and peripheral neuropathy.	false
+695fbab51f61a7a9dc406483825f8d72ca06f406	Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder, characterised by @DISEASE$, slow saccades and @PHENOTYPICFEATURE$.	false
+ee9cd8bfc5630212743ec046030437dd03616daf	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease.	has_symptom
+211477fcbdf9f9c8dce65f913b7db9de1230cfb8	A 62-year-old male presented with left @DISEASE$ (V2 area) and left facial @PHENOTYPICFEATURE$.	has_symptom
+e6a15b297332160fe357e82f1ad886432c896033	The mass was piecemeal totally removed.After surgery the patient recovered both left @DISEASE$ and @PHENOTYPICFEATURE$; ataxia was significantly relieved too.	has_symptom
+c1b9bb221f65ff3334d45e4970aff351fb98b8c1	The mass was piecemeal totally removed.After surgery the patient recovered both left trigeminal neuralgia and @DISEASE$; @PHENOTYPICFEATURE$ was significantly relieved too.	false
+1491e5c505e71c328f39a3a6d4628406a89669c4	The mass was piecemeal totally removed.After surgery the patient recovered both left @DISEASE$ and hypoesthesia; @PHENOTYPICFEATURE$ was significantly relieved too.	false
+a33ca18585461c373eaf2dafae68bfc136c70f0e	We report a case of M?bius syndrome in a 2-year-old girl with bilateral convergent @PHENOTYPICFEATURE$ and left-sided @DISEASE$ weakness.	has_symptom
+dd444c55395a92a071559dcab3c91600a4b1ea51	Results indicate that the common pattern of cheilognathopharyngeal disorders in 4p- syndrome is an @DISEASE$ or a high-arched palate with @PHENOTYPICFEATURE$.	has_symptom
+888877db68718696acb73408cc0618d427079940	We prospectively assessed 5 fetuses at risk for @DISEASE$ on the basis of family history, @PHENOTYPICFEATURE$, or both, using sonography and standard and real-time single-shot fast spin echo MR sequences.	has_symptom
+bb9baa60748342f325f7a87c65a05cfa2b40a8f1	Collagen XI sequence variations in @DISEASE$, Robin sequence and @PHENOTYPICFEATURE$.	has_symptom
+bfef5118f8a9c4124386cf559e59adc1b8c14859	We hypothesized that infants with @PHENOTYPICFEATURE$ would have more significant OSA than those with @DISEASE$ ? cleft lip (ICP), and those with ICP would have more significant OSA than controls.	has_symptom
+50a30335571c07fae25cd9024ad8fa843d8046b2	The induced terata included cleft lip with or without cleft palate, @DISEASE$, @PHENOTYPICFEATURE$ or agnathia, and limb malformations.	has_symptom
+040334f8dc0ec571b44ee159fbad49f128a18e2d	The hearing status of 20 individuals with Pierre Robin Sequence (@PHENOTYPICFEATURE$, cleft palate, and glossoptosis leading to respiratory distress and feeding difficulty) was examined and compared to a sample exhibiting only @DISEASE$.	has_symptom
+0b7e955c60c85fef4a606e0c208ae759f51ffc22	The hearing status of 20 individuals with Pierre Robin Sequence (@DISEASE$, @PHENOTYPICFEATURE$, and glossoptosis leading to respiratory distress and feeding difficulty) was examined and compared to a sample exhibiting only isolated cleft palate.	false
+c1226e3b914f42ffc92a50dcdc73d5327ddc7dd6	The hearing status of 20 individuals with Pierre Robin Sequence (micrognathia, @PHENOTYPICFEATURE$, and glossoptosis leading to respiratory distress and feeding difficulty) was examined and compared to a sample exhibiting only @DISEASE$.	false
+f40ee35d83c7ded2bc6d9fa120edafb4f0a9f931	We present a Roberts-SC Syndrome in a 20-day-old girl with phocomelia of the upper limbs, @DISEASE$, @PHENOTYPICFEATURE$, prominent eyes, pectus excavatum, and pes equinovarus.	has_symptom
+eb6aed5c0b09d04245fa16bf2495647ff8ce039d	With knowledge of this causative relationship, clinicians should consider the importance of gathering cephalometric data on the mandibles and tongues of patients presenting with @DISEASE$ to determine whether they have @PHENOTYPICFEATURE$ as well.	has_symptom
+c376f3f873315e11d2720f50d651d6a1cfcc0323	To identify the genetic cause of @DISEASE$ type 28 (SCA28) with @PHENOTYPICFEATURE$ in 2 Belgian families without AFG3L2 point mutations and further extend the clinical spectrum of SCA28 through the study of a brain autopsy, advanced MRI, and cell-based functional assays exploring the underlying disease mechanism.	has_symptom
+0e67656f0c3f4040ea8be82cd82f986aff105229	We think that low doses of alkali are useful in the transient form of @DISEASE$ to prevent bone lesions and @PHENOTYPICFEATURE$.	has_symptom
+fcdff3ad924dff799d2aa54937280f76da8e5fa1	Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, @PHENOTYPICFEATURE$, @DISEASE$, and lactic acidemia leading to death.	has_symptom
+25ba4ac612b1721e941d04775796b92ce0bf5d60	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+a0a106ec9efe4877e1e61e2d26892b21d31ed2b5	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy (@DISEASE$).	false
+a6655de02f9fc7bd205ad8572ce197eecf56a504	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with @PHENOTYPICFEATURE$, hypsarrhythmia and @DISEASE$ (PEHO syndrome).	false
+0ee5b71ec1c1f08b8067693668a9015937447368	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy @DISEASE$ with @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy (PEHO syndrome).	false
+789f64cdd6be902ae7605c2887aff634cc0339fa	Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and @PHENOTYPICFEATURE$ (the @DISEASE$).	has_symptom
+e10bb079ad020bbcab2f5b4feaf08fd282654077	Neuropathology of the progressive encephalopathy syndrome with @PHENOTYPICFEATURE$, hypsarrhythmia and @DISEASE$ (the PEHO syndrome).	false
+fba99af78f4f59c3bd6b530fcd8b837c3923e576	Neuropathology of the progressive encephalopathy syndrome with @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy (the @DISEASE$).	false
+2f9491e6a0c4239af074eaee7fb3e16a2d7710b7	Neuropathology of the progressive encephalopathy @DISEASE$ with @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy (the PEHO syndrome).	false
+7c9f999720fef273de08f2183bca294dee138d34	[Progressive encephalopathy with oedema, hypsarrhythmia and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+7c61df8056b6bf3b603c11d1a2b5a40f4669a745	One patient with @DISEASE$ and a de novoGNAO1 mutation was found to have an additional de novo mutation in HESX1 that is associated with @PHENOTYPICFEATURE$.	has_symptom
+e21deab9eb09f578313d4677f7ef8312dcc7cb3e	One patient with PEHO syndrome and a de novoGNAO1 mutation was found to have an additional de novo @PHENOTYPICFEATURE$ in HESX1 that is associated with @DISEASE$.	false
+3bbb81bb8e0071f35226d98e2fc2f099074a08b9	One patient with @DISEASE$ and a de novoGNAO1 mutation was found to have an additional de novo @PHENOTYPICFEATURE$ in HESX1 that is associated with optic atrophy.	false
+2c0864c7f1c0700ec8672873d2ae45fbeb0c1ef0	The @DISEASE$ (progressive encephalopathy with oedema, hypsarrhythmia, and @PHENOTYPICFEATURE$) is a recently recognised disorder of unknown biochemical background.	has_symptom
+9a7ab513009d4eb8d70b39c61b1a0a22b40e26c2	@DISEASE$ is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and @PHENOTYPICFEATURE$.	has_symptom
+ba87958324b6c92150c5539183567fdaa750d46b	@DISEASE$ is a rare symptom complex of severe progressive encephalopathy, @PHENOTYPICFEATURE$, hypsarrhythmia, and optic atrophy.	false
+fb5d13c745384f811ccf1a39ecfad0d4fa0b31df	PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, @PHENOTYPICFEATURE$, hypsarrhythmia, and @DISEASE$.	false
+382dec28a5cc23b61fc6c0a0fce82e4d2978ea3a	@DISEASE$ (progressive encephalopathy, peripheral edema, hypsarrhythmia, and @PHENOTYPICFEATURE$) is a neurodegenerative disorder first characterized in Finnish patients.	has_symptom
+c60bffd7985f7fa9ea45c711a68d78e7a82e1daa	The @DISEASE$ (progressive encephalopathy, hypsarrhythmia and @PHENOTYPICFEATURE$) is a rare, autosomal recessive, encephalopathy of infancy.	has_symptom
+ac7fddf2c820ca3e5053e28e6f63b5fc95a52b84	The @DISEASE$ (progressive encephalopathy, hypsarrhythmia and optic atrophy) is a rare, autosomal recessive, @PHENOTYPICFEATURE$ of infancy.	false
+bb8b428f0946dc15a4eab4dde61b43c5513ff8e8	The PEHO syndrome (progressive encephalopathy, hypsarrhythmia and @DISEASE$) is a rare, autosomal recessive, @PHENOTYPICFEATURE$ of infancy.	false
+3c47ed886ee1182da15b4c27006001bcfbb57390	@DISEASE$ is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, mental retardation, oedema, and @PHENOTYPICFEATURE$.	has_symptom
+7c3898749ff4cede151dfb1d0e80b822f5e17283	PEHO syndrome is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, @PHENOTYPICFEATURE$, oedema, and @DISEASE$.	false
+dee7d9f8efdaf813f55635bcd6ec90c5c3368c30	@DISEASE$ is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, @PHENOTYPICFEATURE$, oedema, and optic atrophy.	false
+f4743b945d07f4295f2178d49868011832497d6c	We report a child with hypotonia, @PHENOTYPICFEATURE$, progressive encephalopathy and intractable infantile spasms who was diagnosed with @DISEASE$.	has_symptom
+a633d552926fd0eaa7d4bcf2b60231200fffb9a9	This report confirmed that haploinsufficiency of the 2 long forms of SOX5 presents common clinical features, including mild @PHENOTYPICFEATURE$ and autistic features, which could be useful for the clinical diagnosis of @DISEASE$.	has_symptom
+07d6d9c0caf0de915f83bfe722b0e20e20203ad6	@DISEASE$ (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate @PHENOTYPICFEATURE$, speech delay, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1.	has_symptom
+662786c3f28f1742c446726c518a87d3b7b5eb80	@DISEASE$ (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, @PHENOTYPICFEATURE$, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1.	false
+1edaa8977b3095f7dbf7f51cf7048e22a6f3b243	Lamb-Shaffer syndrome (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate @DISEASE$, @PHENOTYPICFEATURE$, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1.	false
+350837dc23a8652e303450c025b3d18935edbfca	@DISEASE$ should be considered in all patients with unexplained @PHENOTYPICFEATURE$.	has_symptom
+f049957b3dd9186eaf424b6ed909a7c0fc36256e	@PHENOTYPICFEATURE$ is common and frequently debilitating in patients with @DISEASE$.	has_symptom
+aba1c4fd97ab3f7fdb8fde98aa77566f4561acbc	Most patients with @DISEASE$ develop intractable @PHENOTYPICFEATURE$ and malnutrition.	has_symptom
+350837dc23a8652e303450c025b3d18935edbfca	@DISEASE$ should be considered in all patients with unexplained @PHENOTYPICFEATURE$.	has_symptom
+0fc147c41c5b3d213716e12bf5c83b5e6d38b7fd	It is responsible primarily for recurrent acute pancreatitis, chronic @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+71221f49e79ae7048b8222783f3426f4aa846520	Chronic @PHENOTYPICFEATURE$ is the most difficult management issue in patients with @DISEASE$.	has_symptom
+f3e55be53cf35e0fdb1d4e36a484c609c587fef5	@DISEASE$ (CP) is often associated with @PHENOTYPICFEATURE$, which impairs quality of life.	has_symptom
+350837dc23a8652e303450c025b3d18935edbfca	@DISEASE$ should be considered in all patients with unexplained @PHENOTYPICFEATURE$.	has_symptom
+6a038e5648ed1e146568ef5f7cd1b48807df6d7f	@DISEASE$ was correlated with age younger than 55 years and @PHENOTYPICFEATURE$.	has_symptom
+c79b8892aa48b0d0b204b0da4d26c7fc86eb2807	The major complications of @DISEASE$ include @PHENOTYPICFEATURE$, malabsorption, and diabetes.	has_symptom
+e3e3d37789383452aab1971fc861e73d361010c7	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of @DISEASE$, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, @PHENOTYPICFEATURE$, downslanting palpebral fissures, and a downturned mouth.	has_symptom
+17e7a8ef609d51cf724aaf895f653dcc57b7b049	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, hearing loss, bilateral inguinal hernias, submucous @PHENOTYPICFEATURE$, and dysmorphic features including a triangular shaped face, broad forehead, small chin, @DISEASE$, downslanting palpebral fissures, and a downturned mouth.	false
+6d86e3b87903d6b9ec6c3f70cc7279ec47e27598	We report a male dizygotic twin with an interstitial deletion of 13q and @PHENOTYPICFEATURE$, hypotonia, polymicrogyria, bilateral foci of @DISEASE$, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+93be78d39a1e86b8ec679ab8c084f6e5c3ec9239	We report a male dizygotic twin with an interstitial deletion of 13q and @PHENOTYPICFEATURE$, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, @DISEASE$, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+7e4ac936e5afe124d25ee5a76c57c83f53118c7c	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of @DISEASE$, hearing loss, bilateral inguinal hernias, submucous @PHENOTYPICFEATURE$, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+611b2e3434fdeab49bd1b50ea620930c68eea5ac	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, @DISEASE$, bilateral inguinal hernias, submucous @PHENOTYPICFEATURE$, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+c0cabaf3ac607abf85974e9990a08efdd8ff011b	We report a male dizygotic twin with an interstitial deletion of 13q and @PHENOTYPICFEATURE$, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, @DISEASE$, downslanting palpebral fissures, and a downturned mouth.	false
+4ece579a93df3b4443f729a3888515dc45aefec5	We herein describe a case of severe hyponatremia complicated by @PHENOTYPICFEATURE$ and coma due to the intake of non-steroidal anti-inflammatory drugs (NSAIDs) in a patient on DDAVP replacement therapy for @DISEASE$ (DI).	has_symptom
+0e9ef56aac1f7a6914651ac58e2ba9e22176408e	We describe a patient with complete @DISEASE$ and @PHENOTYPICFEATURE$ who developed worsening hyponatremia when her dose of oxcarbazepine was increased.	has_symptom
+bdc7558641ce70c5f5ada3e3490cc0b3f021b175	During a subsequent hospital admission for @PHENOTYPICFEATURE$, the patient was diagnosed with transient @DISEASE$ for which he required treatment with a desmopressin infusion.	has_symptom
+dc1ea72990376883ae577d435d102893590009bb	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including obesity, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (@DISEASE$, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, @PHENOTYPICFEATURE$, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	has_symptom
+62b652f6f5c02a2629aab165bdf8fc65284bf4ba	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, @DISEASE$, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+342f979d736e035e0027fcfe7bfd55872929678b	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, @DISEASE$ (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+14c400e2361c47fdf878eaa22088f92b54a26ff8	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, @DISEASE$, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+6737e48ce1183971dc735f33c01f54d91700a09a	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic @DISEASE$, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+b9cfb60b8db6b24106b26efdd9f4b8be451bd7bc	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (@DISEASE$, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+2a25e16af8e48aa07819df4f5d698c0657c87a89	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, @DISEASE$, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+4c07479be854348a477806afed265e3925590fb2	@DISEASE$, or cerebellotrigeminal-dermal dysplasia, is a rare neurocutaneous syndrome of trigeminal anesthesia, scalp alopecia and @PHENOTYPICFEATURE$.	has_symptom
+c5f7f5c219841745737433de5bf4167a59f3245a	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	has_symptom
+2e183b97886d8d74df96d38ccb0b6c9f7d90ef9c	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @DISEASE$, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+84721c068734309d8624e215ad5b5306611eeaf1	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, @DISEASE$, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+a0903f2ff8a107c242951738f99b9c100f19f1e0	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+35eb4dfe5e83776885c7ed86c10a6231a9ba1cb2	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, @DISEASE$, short stature, and craniofacial anomalies.	false
+000239335233f34e1a8b89e3d6b13ea2db48c258	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a @DISEASE$ syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+4c50c7c7fe63bcecee79bfc7442e790e39ff809d	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a @DISEASE$ syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+54844ac86e619b45aec86ef39f25aed17bc69b77	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+74f7688cd2eb54944d53a24b3d3a6258a991cc90	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @DISEASE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+57e9ff939277e260bd18eaff7b92a530c2c45ddf	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare @DISEASE$ comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+cbe415d56499f62e79c1e054ccd8ce98e195f7ba	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare @DISEASE$ comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+8d2a1cc17cfb7234e7699afd729d70698c3289e7	Mutations in the human transcription factor gene ZEB2 cause @DISEASE$, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, @PHENOTYPICFEATURE$, retinal coloboma, and/or optic nerve hypoplasia.	has_symptom
+9f2958cac7c9831d2732b0bb22b0344cdd4cda7e	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+ff308600e0e9184dfd8f7ed01219715f28fe126f	Mutations in the human transcription factor gene ZEB2 cause @DISEASE$, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+40ae70161b09f2197a5a8df4c9da97e129c296d0	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including @PHENOTYPICFEATURE$, Hirschsprung disease, intellectual disability, epilepsy, @DISEASE$, retinal coloboma, and/or optic nerve hypoplasia.	false
+4ce24e456fab55728f3f6bb3824886e51289846a	Mutations in the human transcription factor gene ZEB2 cause @DISEASE$, a congenital disorder characterized by multiple and variable anomalies including @PHENOTYPICFEATURE$, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+5905d45bee2f8d0d3de34a3ce4b44c9479a19a46	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, retinal coloboma, and/or optic nerve hypoplasia.	false
+d5dc3a8d699edfe76d065591608baca59a73d070	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including @PHENOTYPICFEATURE$, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal @DISEASE$, and/or optic nerve hypoplasia.	false
+6672e8debe7dc3a9300e7f474bfbef37bfa44f8f	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+536dde61ee44685992c52fbd9fd485fcb94bac3c	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal @DISEASE$, and/or optic nerve hypoplasia.	false
+5e2f29d92593036f00f21ddd6b98a1dd473588ff	The radiographic features of epidemic and sporadic @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+8566bb001b3152cf02f98a254505f8fb03529381	In a patient with CAP, acute thrombocytosis is usually associated with @DISEASE$ @PHENOTYPICFEATURE$ and less commonly with M. pneumoniae.	has_symptom
+71e5c64359c0f2f980c4481f04edae5be128d02f	Mycoplasmal pneumonia, tularemic pneumonia, @DISEASE$ @PHENOTYPICFEATURE$, psittacosis, and Legionnaires' disease are the most frequently encountered treatable atypical pneumonias.	has_symptom
+1369576d364377524f40da7fc569a3753c723c17	In multivariate analysis, male sex, middle age (age, 30-60 years), headache, leukocyte count <10 ? 10(9)/L and C-reactive protein level >185 mg/L were independently associated with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+386a9d255f257b11646840d2bca370b8a439f07e	The score performance characteristics were used to choose the best prediction rule to identify patients with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+3fd1659f22fcb40ba6dec994b480934dbb13c4fb	Hypophosphatemia, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+03c534b822825bf2ae9dcf642257cdf3899f8c28	Hypophosphatemia, @PHENOTYPICFEATURE$ and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute Q fever @DISEASE$.	false
+08521e6a96b731f69e3466484df16f9044746e16	Hypophosphatemia, @PHENOTYPICFEATURE$ and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ pneumonia.	false
+c23da25e88ab5c8e20be38407c9476d47aa721b9	@PHENOTYPICFEATURE$, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute Q fever @DISEASE$.	false
+5c239b484cd248289d6ffc500d589842c1c0b625	@PHENOTYPICFEATURE$, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ pneumonia.	false
+be36ada1e1b873393b55ae034f4aecb1f9e3e478	@PHENOTYPICFEATURE$ severity scores (PSI and CURB-65) of acute @DISEASE$ pneumonia patients (defined as infiltrate on a chest x-ray) were compared with data from CAP patients.	has_symptom
+08d1b0ac8f8ba369b32000d379e54f185f1f2969	The 21-year-old woman was a typical case of @DISEASE$ @PHENOTYPICFEATURE$, since her clinical features showed 1. the breeding of cats, 2. development from a fever and non-productive caught in March, 3. multiple soft consolidations in the chest radiograph, 4. normal WBC count, 5. cure by administration of clarithromycin.	has_symptom
+2279ad449abeb7a734b4d292ce259195f102b315	Ptosis aggravates @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+da791fc97df77ec9240551abd1c35dd746d0abf8	@PHENOTYPICFEATURE$ aggravates dysphagia in @DISEASE$.	false
+09199769fee2ef66b2378f5e80df45b37fe1ef02	@PHENOTYPICFEATURE$ aggravates @DISEASE$ in oculopharyngeal muscular dystrophy.	false
+cb9b2a30ddd1af3cb3705774d2a7c118e8745a1f	Oculopharyngeal muscular dystrophy (@DISEASE$) is an adult-onset disorder characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+1c4e34aeff239dd95b52045ed2c9c1e3d6bba35d	@DISEASE$ (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+c318e65e8c5ffb7f4f8c8acfb9bc09495b217758	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, @PHENOTYPICFEATURE$ and limb weakness.	has_symptom
+83815625fb3d9321350a1de06e571620c4635733	@DISEASE$ (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, @PHENOTYPICFEATURE$ and limb weakness.	has_symptom
+d6075b7b3eba2f964762e1df4806714a3b151b3b	@DISEASE$ (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by @PHENOTYPICFEATURE$, dysphagia and limb weakness.	false
+0a4ded6e42ab44d1181c6effe3928e94d1d13c6b	Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by @PHENOTYPICFEATURE$, @DISEASE$ and limb weakness.	false
+7a19c063618f7abed86b4b18173aacf615fcf42a	Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary @DISEASE$ of autosomal dominant transmission characterised by @PHENOTYPICFEATURE$, dysphagia and limb weakness.	false
+a6949612423e7f2157a3db6e80072653ae0a3232	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late onset hereditary myopathy of autosomal dominant transmission characterised by @PHENOTYPICFEATURE$, dysphagia and limb weakness.	false
+e5e4a9b55195d3d16ecbb404764c12ec84d18a8d	Oculopharyngeal muscular dystrophy (@DISEASE$) is an adult-onset disease characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+861e6276a0857b8db992142e49df83f9270b57cd	@DISEASE$ (OPMD) is an adult-onset disease characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+3e06ae8dea4d160c57c1ab022e5999a06ef2cb89	@DISEASE$ (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping (ptosis), @PHENOTYPICFEATURE$ (dysphagia), and proximal limb weakness.	has_symptom
+d6d2b164e4074524f0545d12d2f215d365eb35ba	Oculopharyngeal muscular dystrophy (@DISEASE$) is an adult-onset disorder characterized by progressive eyelid drooping (ptosis), @PHENOTYPICFEATURE$ (dysphagia), and proximal limb weakness.	has_symptom
+f098e0eddc82115f670dbcde354afb52b520fcf1	@DISEASE$ (OPMD) is a late-onset autosomal dominant muscular dystrophy characterized by progressive ptosis, @PHENOTYPICFEATURE$, and proximal limb weakness.	has_symptom
+8a49229c0072f1d371730f2b9707c4d523645d83	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late-onset autosomal dominant muscular dystrophy characterized by progressive ptosis, @PHENOTYPICFEATURE$, and proximal limb weakness.	has_symptom
+3e0d65ae245f9a2b77ee546039bcfe15e74e62cf	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ characterized by progressive ptosis, swallowing difficulties, and proximal limb weakness.	false
+a9d8e91163176b431545c2e6563e630cbec205ee	Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ characterized by progressive ptosis, @DISEASE$, and proximal limb weakness.	false
+89abf872b64e081752db61e54279931ad667d822	@DISEASE$ (OPMD) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ characterized by progressive ptosis, swallowing difficulties, and proximal limb weakness.	false
+cb9b2a30ddd1af3cb3705774d2a7c118e8745a1f	Oculopharyngeal muscular dystrophy (@DISEASE$) is an adult-onset disorder characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+1c4e34aeff239dd95b52045ed2c9c1e3d6bba35d	@DISEASE$ (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+fe0b8d653ba65be6650e34d05299365f4e1a0da4	@DISEASE$ (OPMD) is a relatively rare, adult-onset disorder characterised by proximal limb weakness, progressive eyelid drooping and @PHENOTYPICFEATURE$.	has_symptom
+0eae524e63c025cfdc823d8750a0254997ae3b1b	Oculopharyngeal muscular dystrophy (@DISEASE$) is a relatively rare, adult-onset disorder characterised by proximal limb weakness, progressive eyelid drooping and @PHENOTYPICFEATURE$.	has_symptom
+50642431541d2e7d6e0468b568192991fbb966a3	Oculopharyngeal muscular dystrophy (@DISEASE$) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, ptosis and @PHENOTYPICFEATURE$.	has_symptom
+2f4c3d105ba1c81c5029a6d6736ff99214f8f181	@DISEASE$ (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, ptosis and @PHENOTYPICFEATURE$.	has_symptom
+8f23d4f99ed76bc7b5d77040173308cd8ebd4a95	@DISEASE$ (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, @PHENOTYPICFEATURE$ and swallowing difficulty.	false
+8bc9482b2fdc34f438ee04e6415357a47bb207ab	Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+53c7e72d43afb218685b46c8bf1fc0f607fb7c04	Oculopharyngeal muscular dystrophy (@DISEASE$) is an autosomal dominant late-onset neuromuscular degenerative disease characterised by proximal muscle weakness, @PHENOTYPICFEATURE$ and swallowing difficulty.	false
+cb9b2a30ddd1af3cb3705774d2a7c118e8745a1f	Oculopharyngeal muscular dystrophy (@DISEASE$) is an adult-onset disorder characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+1c4e34aeff239dd95b52045ed2c9c1e3d6bba35d	@DISEASE$ (OPMD) is an adult-onset disorder characterized by progressive eyelid drooping, @PHENOTYPICFEATURE$ and proximal limb weakness.	has_symptom
+0a1dce432c4bf87e10c5a674edb59460116b4924	Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder @DISEASE$ (CS), which is characterized by craniofacial malformations, polysyndactyly, obesity and @PHENOTYPICFEATURE$.	has_symptom
+8c0af8b64e042e2302e5b17b401f30f07fba9cc9	Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder @DISEASE$ (CS), which is characterized by craniofacial malformations, polysyndactyly, @PHENOTYPICFEATURE$ and intellectual disability.	false
+36e215508e19d0202935130249406c1d7a75e31c	Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder Carpenter's syndrome (CS), which is characterized by craniofacial malformations, polysyndactyly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9a569857a8accf89d9c4b4d3b6370a79fa3e0454	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	has_symptom
+3828218b70220b6ba94a1314ed192c688f74e001	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a12eb2f95744cffb6b2953bb8210aac5e8b9f46a	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+765eed556033efa7af8c23482611376cb2b7ddc1	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, congenital heart disease, and @DISEASE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+8889a83fae933949709236c678d6b728b3fe1115	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9a9c37c8b6ae070d98a64b55b3bb196cd7e212b4	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+2846caef792df303906a16307ad2d1fdc2625bc7	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+841c7d93af4b33044c391243a4a8517a7769937f	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+6437a3e9a2f5a5ae233ddf6c84653c00178568b6	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and @DISEASE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a99640fa66514459000ee0bcc49aeb40deba8c54	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+ac21f1c099398770a37433213ccb9286b77a4e45	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+884cc755a1b3b7f3fc5b2c52801d79e10a7834f0	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and @DISEASE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+fa1d10f786b38eb162df95ed881027af527d6b36	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and @DISEASE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+b6897e570de8d3a00dc1c2de45c1e44ef9827102	Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/@PHENOTYPICFEATURE$ (ATR-X) syndrome, @DISEASE$, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia].	has_symptom
+f85b26a62d2c040c3ac2ba703e8790bf7dd21e15	Previous reports have noted a constant association between the @DISEASE$ (acrocephalopolysyndactyly, type II) and @PHENOTYPICFEATURE$.	has_symptom
+dac7489a843d0ca24db83f35affb5093efcfc6a5	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+1d7e97bf91d5cbaefe88714620c4152ded09aa91	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+19b4a2f9ee76becd64b80dcba0f63b2a3b4593f3	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+adf8d1ac558ae39154cf82bbb0ee7c29f076ed31	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+336ef8a443129b42a61ab2d64597aadaeacdebc9	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+da68ecc327f7465db1554b3ef3641bb63d8ef119	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+1b9a2f98d5f34dd4afd813cbb8f513ed90fe5850	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+4726d63422cafa846d04bbf2cb395d31e11c3622	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+0fa332ac3a238f848632ad1cfc83027039d1a38d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+d8b9d4e0cc146273a59f8a399ffeb0ed38baf3b4	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3ab26b2e3d68f3a7f504cba34363659a1e4f4c76	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+dc4e5c98879a128fa3ebd8a1f35eafc9d2f67733	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @DISEASE$, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+9f5efe846101119c3c92fbb510a6c0a2ce8bb59b	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+a6a1ddfef9785d74458ba92ec6450b805fbf6b4c	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+974549c7f14fbc651c6c39008a2a966ef34bc73c	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+7f737850528b483eabf5ad0f3a8f9688e4150310	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5c764caefaf508a2f457594bba319c22bd8be6d9	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b0be8f5df9cb498a5b6b7783c6d2fc9b18edd364	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+0c8ca1f8e04bb5b39c4025995dc2c013b85d8527	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	has_symptom
+f157aff112c567dacb8cfa6e2751f6832a2fb048	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+875adce164987e0e289db1f6cbdf33df27927052	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+55b9026ab9a23e7f95659aa742dda09ee0d61bff	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+de4aeda4df69279b16e6c589ad52c32a278cf164	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+7775477cb2c8ae41452731567547ad9eef2bc5f7	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+3232341e24ea297d8d575683ec8436560f5178ec	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and @DISEASE$.	false
+d37cc1211b5815e4e68b03ccbb8416a678c1c714	@DISEASE$ consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+56b778c36454e5284ed52600ccfcc74a753cedc7	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+96b5b76e569141408a029b2917723ce02ecf2b9c	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+a1a3dc5bd4ed7ed3a9e0be65fc8e2575d25556a1	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @DISEASE$.	false
+6e2ac98e6aeffe7f499c1794a32cdbc17169a8b9	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+a6549872b0ccdf18c817e3a20683b7b5e69e7069	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and @DISEASE$.	false
+1998bd7ebc3b8c31a967283b58403518f90cbe78	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+4e1ad9db846b814fefc446b9e97a40e40fc6ce71	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+8b18f0429917349a8c489adaafa0655ed2dad78b	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+792228053059b9f1811361f20104f938a847b857	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+b9c73915612849cc092a234c174b6189e2bd5657	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+1da5c675ddf414f62aaa31fd6b22e6dabc315851	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+93edb6eaff2330fa45e044b28b6f37a29356f9f5	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+4afbe64566f10febab36cd178a686559f97bd2b8	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+744331d0af9ec35551e21945c9fa405884afdacd	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+3fa1c91fb0f64c5a7294aab9c2718f54200a3a4a	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @DISEASE$, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d2664b1c34552e625b4b76ecf1144fe3b35b75f0	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, @DISEASE$, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+60f7a2e4dd790d76dc3903efaa64aa19f4cba2de	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @DISEASE$, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+ee95a6d0738586542efb1aedabfe2554dd34f5e7	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d0e17586316677438b6912a2dd9aac494d3fdaef	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+c96a9727b8a860594675e4b8c256884df5df4ee6	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+b2a1e1842644f53cff9f65668ef5be85719e7f4d	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	has_symptom
+5621a27381cf3e43a5c246aeac824ef54eaa2397	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+d5beb3756c37e69fe7d786f13fd46644336a32d2	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+5bad8999c5c39bcd7d645f3983b5e17a0953ef89	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @DISEASE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+07cc7a09a5173a999535bcd8a10bf4792f85e0ba	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative @DISEASE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+6dd2e7a27f68b1329346a582ab5702c344afe4ce	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+830a00babf8cab760a642c7caf1a17b136ef4dd8	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+bfe65c0e6e0edee98fd4e8529813e132c2c07d68	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+6ac3e9c8d538790fe61006e23d897cc1635e5775	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+c42f0b92da97d58c90b2cbdccac6dd0831d47321	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+c66467d5f160dd8b8381777987d789aec16df65b	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+6b1b895fc6f20a1503614f16b3ad9c8925cb10a3	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+bf840231a61d47e9de8ceffcf91d1938f3a7837d	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @DISEASE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+11b309369a7fe6c6e4b0711249c33cb4a43e91a9	mutation and a milder phenotype, characterized by a learning disorder without intellectual disability, nonspecific dysmorphisms, and an electroencephalogram picture closely resembling that of @DISEASE$ with brief @PHENOTYPICFEATURE$ that have appeared during the follow-up, responsive to valproic acid.	has_symptom
+192427d9cc367187a27ac2ad7d40fbde81875faa	Pontobulbar palsy and @PHENOTYPICFEATURE$ (@DISEASE$): A case from Northwest Iran.	has_symptom
+a4b0daae513e18f3565b0475c5230d028fc75835	@DISEASE$ (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and @PHENOTYPICFEATURE$.	has_symptom
+6e29889a3b9479b34535d4cf5ed3fa725dfe0a1d	The @DISEASE$ (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with @PHENOTYPICFEATURE$.	has_symptom
+0c636dc0b40ebb044809cde6035932293655ea78	We describe a case of @DISEASE$ with strong family history for @PHENOTYPICFEATURE$.	has_symptom
+557e1847e6943e22c457fa4c4eacf1c9a3615ecc	Two adult patients (a brother and sister) with post-lingual @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+6b15fc47550aa291b704863e64240807a54becfd	We describe a case of the @DISEASE$, which is a rare disorder characterized by progressive pontobulbar palsy associated with @PHENOTYPICFEATURE$.	has_symptom
+895ef7d2b3e0bbb032e033ede5596e29ae7a7b5f	@DISEASE$ should be considered in patients with @PHENOTYPICFEATURE$ and pontobulbar palsy.	has_symptom
+56972a719a06611f6b07cc39ff130eb89c220285	@DISEASE$ (BVVLS) is a rare degenerative neurological disorder characterized by pontobulbar palsy and @PHENOTYPICFEATURE$.	has_symptom
+5d57c2a5afc70d87b29706c41161b407976ff910	@DISEASE$ is a rare neurological disorder characterised by pontobulbar palsy and @PHENOTYPICFEATURE$.	has_symptom
+4fe556aa30c918e676d82c32cd4bf8831a2469fd	Pontobulbar palsy and @PHENOTYPICFEATURE$ (@DISEASE$): the first case from Libya.	has_symptom
+724c136946c3d18aec8b7c89eac5c3fb9edfe87c	Diabetes mellitus in @DISEASE$, Fanconi anemia, xeroderma pigmentosum, common variable @PHENOTYPICFEATURE$, and severe combined immune deficiency families.	has_symptom
+b7a71aad975f10dea61582d12e21cd48ffacf038	This rare, autosomal recessive disorder is caused by deficiency of lysosomal alpha-fucosidase and is manifested clinically by progressive mental and motor deterioration, coarse facies, growth retardation, recurrent infections, dysostosis multiplex, @DISEASE$, visceromegaly and @PHENOTYPICFEATURE$.	has_symptom
+b213d62cfae49756d4efd180340b23aacb8c2e27	This rare, autosomal recessive disorder is caused by deficiency of lysosomal alpha-fucosidase and is manifested clinically by progressive mental and motor deterioration, coarse facies, @PHENOTYPICFEATURE$, recurrent infections, dysostosis multiplex, @DISEASE$, visceromegaly and seizures.	false
+b7191f0858b511697543970648c00aa462c32828	This rare, autosomal recessive disorder is caused by deficiency of lysosomal alpha-fucosidase and is manifested clinically by progressive mental and motor deterioration, coarse facies, @PHENOTYPICFEATURE$, recurrent infections, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly and @DISEASE$.	false
+2308d321154801340ae61925d6ed5dc5ad53c062	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, @PHENOTYPICFEATURE$, coarse facial features, dysostosis multiplex, @DISEASE$, visceromegaly, recurrent respiratory infections, and growth retardation.	has_symptom
+63a1b96e9e9065dbad2b2bd7942c6a885a5f4c6a	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, @DISEASE$, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+eefd2477f84a1fefb2c238ad3e2afaa955b83933	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, @DISEASE$, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+4c57f738a1d5a9c20c8256efe38c40fcfbf8df25	@DISEASE$ is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+e324c96dcd2401449a655e2c5a1f93ff8be5512e	Fucosidosis is a rare autosomal recessive @DISEASE$ with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+93e211fb269e358bdc5de582cef4f83302f4f4e6	Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, @DISEASE$, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+d317b5890b89285492e393c882c10812317f2077	The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), growth retardation (78%), recurrent infections (78%), dysostosis multiplex (58%), @DISEASE$ (52%), visceromegaly (44%), and @PHENOTYPICFEATURE$ (38%).	has_symptom
+a11899793414a644533985362353cd176c72a3ae	The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), @PHENOTYPICFEATURE$ (78%), recurrent infections (78%), dysostosis multiplex (58%), @DISEASE$ (52%), visceromegaly (44%), and seizures (38%).	false
+7fbf6c101ebc5f8fcabb3850e9ad4c5a13ffaecf	The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), @PHENOTYPICFEATURE$ (78%), recurrent infections (78%), dysostosis multiplex (58%), angiokeratoma corporis diffusum (52%), visceromegaly (44%), and @DISEASE$ (38%).	false
+f9eeb8482bf74f0c83df48a959b3316458653d43	Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), @DISEASE$ (4 cases), recurrent bronchopneumonias (all cases), @PHENOTYPICFEATURE$ (4 cases) and variable degrees of dysostosis multiplex (all cases).	has_symptom
+44c74b6561c4029a329e37a125649482b5a487e8	Clinical features consist of variable @PHENOTYPICFEATURE$ (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of @DISEASE$ (all cases).	false
+500af56d5e92555ce6afd718ced8399c6d4f5f95	Clinical features consist of variable mental retardation (all patients), progressive @DISEASE$ (6/10 cases), coarse facies (9/10 cases), @PHENOTYPICFEATURE$ (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+7d6592fcaa567619eb2a9780b8848fe0da653da7	Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), @PHENOTYPICFEATURE$ (7/9 cases), visceromegaly (3 cases), @DISEASE$ (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+4f112086c9801c591cb25fd5504d6cfd6bceb06d	Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), @PHENOTYPICFEATURE$ (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of @DISEASE$ (all cases).	false
+ca5cc85f0c0d482fcf6ed68aef74698dd3b30ab4	Clinical features consist of variable @PHENOTYPICFEATURE$ (all patients), progressive @DISEASE$ (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+c22c5d5b1ea2e22c7ec42dc703a959a2065d914d	Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), @PHENOTYPICFEATURE$ (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), @DISEASE$ (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+8feffb5903b2314e5c314e6e31477dd78ec693f9	Clinical features consist of variable @PHENOTYPICFEATURE$ (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), @DISEASE$ (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+c40dedbedb6d1178a3e7ef407ea6010e4ca65cc1	Clinical features consist of variable @PHENOTYPICFEATURE$ (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9 cases), visceromegaly (3 cases), @DISEASE$ (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+86628b1456f97d4adaba5e44fcc64b57ac0f9502	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, @PHENOTYPICFEATURE$ and ptosis.	has_symptom
+366592b66532aaaf96c02a236220353e04e83cfc	A second patient with Tsukahara syndrome: type A1 brachydactyly, @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, mental retardation and ptosis.	false
+22414dfceca76c3c56ef0537567d40ca6d1adb64	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, @PHENOTYPICFEATURE$, @DISEASE$ and ptosis.	false
+eaf0afac3b5d6b1a5d16ff982565bfde8ce5599c	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+1d68ea39cf262b98bcd2d3063dc58205e83665c1	A second patient with @DISEASE$: type A1 brachydactyly, @PHENOTYPICFEATURE$, hearing loss, microcephaly, mental retardation and ptosis.	false
+92675266fccc2c78ecf8000693b106c2cf35485e	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation and ptosis.	false
+53e105ae309ac5f98581ddb74441ef014acae094	A second patient with Tsukahara syndrome: type A1 brachydactyly, @PHENOTYPICFEATURE$, hearing loss, microcephaly, @DISEASE$ and ptosis.	false
+4cb4dff04a91fc3eba890b3dd17e9c2d62208e73	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+c3545b682fa72641a99d906e96bb5e087c5b3b8c	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3539089087601b9ca222e22f24e5e6a13b556a0d	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, @PHENOTYPICFEATURE$, mental retardation and ptosis.	false
+721faf0682e8b73a995761791dbb26fac15d9f6c	From a clinical synopsis, we consider the Giuffr?-@DISEASE$ as one genetic entity, which is characterized by the association of microcephaly and radio-ulnar synostosis, @PHENOTYPICFEATURE$ in male patients and variable minor features.	has_symptom
+8b41ae0223dc32eee225c1486f3e56c52956d9db	From a clinical synopsis, we consider the Giuffr?-Tsukahara syndrome as one genetic entity, which is characterized by the association of @PHENOTYPICFEATURE$ and radio-ulnar synostosis, @DISEASE$ in male patients and variable minor features.	false
+1f1bd63c397f9947441bedad607000cea7faec21	From a clinical synopsis, we consider the Giuffr?-@DISEASE$ as one genetic entity, which is characterized by the association of @PHENOTYPICFEATURE$ and radio-ulnar synostosis, mental retardation in male patients and variable minor features.	false
+1f2d2f8421371475c3449a2dd68248e8964ab8f6	We report on a girl with Giuffr?-@DISEASE$ manifesting microcephaly, @PHENOTYPICFEATURE$, radio-ulnar synostosis, short stature and scoliosis.	has_symptom
+7e9aad867a97ced117cfb7ffea66028fc2fbf3a4	We report on a girl with Giuffr?-Tsukahara syndrome manifesting microcephaly, @DISEASE$, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and scoliosis.	false
+58e9193985c7825db0e15d379651dedbeba0d6b5	We report on a girl with Giuffr?-@DISEASE$ manifesting microcephaly, mental retardation, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and scoliosis.	false
+532bbfe1d5fa47293e77d918e588df455c5f4130	We report on a girl with Giuffr?-@DISEASE$ manifesting @PHENOTYPICFEATURE$, mental retardation, radio-ulnar synostosis, short stature and scoliosis.	false
+a1f58d52a1ef938959e74b58502f75ab7e629b06	We report on a girl with Giuffr?-Tsukahara syndrome manifesting @PHENOTYPICFEATURE$, @DISEASE$, radio-ulnar synostosis, short stature and scoliosis.	false
+ead404e3ac727676f2310bee3a1b03b50c038ebc	We report on a girl with Giuffr?-Tsukahara syndrome manifesting @PHENOTYPICFEATURE$, mental retardation, radio-ulnar synostosis, short stature and @DISEASE$.	false
+ac23bc15a2e3ab60a806f9bacf7ef15a8246b3ae	We report on a girl with Giuffr?-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c813c05ab844e39c8dba4ec479a863480c7c9f0b	@DISEASE$ of radioulnar synostosis, short stature, microcephaly, scoliosis, and @PHENOTYPICFEATURE$.	has_symptom
+7b7f7b519347808735d0a1a632d811274800cd0f	@DISEASE$ of radioulnar synostosis, short stature, @PHENOTYPICFEATURE$, scoliosis, and mental retardation.	false
+6e3be02fca00f0dc358c51e14191c38460bd9135	Tsukahara syndrome of radioulnar synostosis, short stature, @PHENOTYPICFEATURE$, scoliosis, and @DISEASE$.	false
+0d43c246a215b735721e66b562ed5414ab6ebe17	Tsukahara syndrome of radioulnar synostosis, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and mental retardation.	false
+84e88ced50e717d5515ee2ad4ae2e9642e6c0566	@DISEASE$ of radioulnar synostosis, @PHENOTYPICFEATURE$, microcephaly, scoliosis, and mental retardation.	false
+cbf0f72de869a7e83cd98a84777b21524372386d	Tsukahara syndrome of radioulnar synostosis, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation.	false
+3de4b6eb1eb23f265ee88229593b1d54f8581de0	Tsukahara syndrome of radioulnar synostosis, @PHENOTYPICFEATURE$, microcephaly, scoliosis, and @DISEASE$.	false
+657b9cec2f804c69e5a64a237992d3d67c25700a	@DISEASE$ is characterized by irregular @PHENOTYPICFEATURE$ of cartilage in the epiphysis, usually affecting the knee and ankle.	has_symptom
+aaa925829f899436dee0a4628740fc6454762e3d	@DISEASE$ (DEH), or Trevor's disease, is an osteocartilaginous epiphyseal @PHENOTYPICFEATURE$ typically occurring in children.	has_symptom
+6ca4f4246e6440c696bd45ba955d8cd8eb9fc210	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and @PHENOTYPICFEATURE$.	has_symptom
+aeabaf1a8ab0188393def3ac0e0e04fbb8e8f6b3	Campomelic dysplasia (CD) is a rare form of @PHENOTYPICFEATURE$ (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and @DISEASE$.	false
+02687a018a64a7f6a65f2a83a2e903728caa520c	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, @PHENOTYPICFEATURE$, and micrognathia.	false
+a625352def37e1f259c0a585e480613f3ae4635a	@DISEASE$ (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @PHENOTYPICFEATURE$, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	false
+341627f35538a3c3c3c516f4e74050727d5cb690	@DISEASE$ (CD) is a rare form of @PHENOTYPICFEATURE$ (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.	false
+ce0a2d7ff5422cc9419b2a779b9a20235a40599a	Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ed4ac7f018209bbf139adc9c2a1a72cad4d4afc3	Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, @PHENOTYPICFEATURE$, flattened supraorbital ridges and nasal bridge, cleft palate, and @DISEASE$.	false
+f5e5774f1913ddc5b1761f1ef88807d1fed8ab86	The Pierre Robin sequence (PRS), consisting of cleft palate, @PHENOTYPICFEATURE$ and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, @DISEASE$ (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.	has_symptom
+12c2776453ec8a2dfa1783f77842f425f467b343	The Pierre Robin sequence (PRS), consisting of @PHENOTYPICFEATURE$, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, @DISEASE$ (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.	false
+65c53e094f897424315cceec1f8bb76ef8dd07ee	The Pierre Robin sequence (PRS), consisting of @PHENOTYPICFEATURE$, @DISEASE$ and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.	false
+ed21bd20892d47f035481ceae64d3ff2a9aeeb56	Both @DISEASE$ (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and @PHENOTYPICFEATURE$ at a young age.	has_symptom
+00a1613f141cdd7b66949226737adaf6ba601f60	@PHENOTYPICFEATURE$ and spontaneous nystagmus were strongly related mainly to the degree of @DISEASE$ and to some extent to the amount of lower brainstem deformities.	has_symptom
+2139b1ceb6307952e831f21467e64f42e73fdff1	A 28-month-old child with neonatal rash, arthropathy, central nervous system (CNS) involvement, and optic disc @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$.	has_symptom
+3698b15e51d1dbb397941c8ae75a768a6a313fc6	Optic disc @PHENOTYPICFEATURE$ in @DISEASE$ (NOMID).	has_symptom
+d537935313b0aa762fc18bcc8a2f9712c4068955	Optic disc @PHENOTYPICFEATURE$ in neonatal onset multisystem inflammatory disease (@DISEASE$).	has_symptom
+44a5d8f93e683ac20f29eacc899427ff08bb2444	We describe a girl with @DISEASE$, who presented with general muscle weakness, @PHENOTYPICFEATURE$ and motor retardation.	has_symptom
+ca40299784ed1ae285e826780ae88c48aa61edd9	Cytochrome c oxydase deficiency, i.e. a @DISEASE$ was diagnosed in a patient suffering from generalized @PHENOTYPICFEATURE$.	has_symptom
+e2567d7cec7231459531498869472e20ad7f65f5	The @DISEASE$ thereby induced allows a better understanding of general @PHENOTYPICFEATURE$, one of the leading symptoms of this disorder.	has_symptom
+7a2e6e7f853c57a7246d51248e27e413716d41c6	@DISEASE$ is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, @PHENOTYPICFEATURE$, congenital abnormalities, and motor and language delays.	has_symptom
+2de8aef5c0c451c83aeb30c68189667640173115	Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, @DISEASE$, congenital abnormalities, and motor and @PHENOTYPICFEATURE$.	false
+189b19cd5fc81abb94806c04e9a7cfc56a97410e	@DISEASE$ is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and @PHENOTYPICFEATURE$.	false
+5182dec7669da10de57b4b17a7af39b0742577ec	Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, @PHENOTYPICFEATURE$, @DISEASE$, congenital abnormalities, and motor and language delays.	false
+df319313496de0d92c305b1d8bc15d895c3c665a	Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, @PHENOTYPICFEATURE$, hypertelorism, @DISEASE$, and motor and language delays.	false
+2cf5a9dcfa13be6a41423e6ffef4c07fb2699a61	Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, @DISEASE$, and motor and @PHENOTYPICFEATURE$.	false
+387085ac85116ea6aac63a096fa98bf0cd79b93f	@DISEASE$ is a sex chromosomal aneuploidy condition characterized by tall stature, @PHENOTYPICFEATURE$, hypertelorism, congenital abnormalities, and motor and language delays.	false
+d54696f6d8d168866acbd01d5680a700cba9f010	In addition, the overlapping @PHENOTYPICFEATURE$ in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and @DISEASE$, are noted.	has_symptom
+5b3d3560ac81fac0c59eeba6415896b493f06e9d	Ribosomal protein L5 and L11 mutations are associated with @PHENOTYPICFEATURE$ and abnormal thumbs in @DISEASE$ patients.	has_symptom
+01fa5faaa66d2a31fadf248382c2bdbed7906170	@PHENOTYPICFEATURE$, bilateral external auditory canal atresia, and other midline defects associated with @DISEASE$: case report.	has_symptom
+832cd214220efdc727823ef5c8980663804683cc	Bilateral microtia and @PHENOTYPICFEATURE$ in cousins with @DISEASE$.	has_symptom
+0477be6573fa9e109345a3add3675d9725f5be00	We report on maternal first cousins with bilateral microtia, micrognathia, @PHENOTYPICFEATURE$ and hematologic findings of @DISEASE$ (DBA).	has_symptom
+81d4b67e1b0ea10d35556f178bbbb10ed0441a63	We report on maternal first cousins with bilateral microtia, @PHENOTYPICFEATURE$, cleft palate and hematologic findings of @DISEASE$ (DBA).	false
+20abf079f4b1923ffaeebf60533a6323c096b5bf	We report on maternal first cousins with bilateral microtia, @PHENOTYPICFEATURE$, @DISEASE$ and hematologic findings of Diamond-Blackfan anemia (DBA).	false
+649190f35b52aeca81dfb8953b9325952660bc50	While loss-of-function mutations in Gsalpha are invariably associated with the short stature and @PHENOTYPICFEATURE$ of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of @DISEASE$ type Ia (PHP-Ia) is much more variable.	has_symptom
+edfbbbc78b01e51c56cfdcbbdf89a81ff3580168	While loss-of-function mutations in Gsalpha are invariably associated with the @PHENOTYPICFEATURE$ and brachydactyly of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of @DISEASE$ type Ia (PHP-Ia) is much more variable.	false
+21e452eb827014fb4c35936cbab144f6e405cec4	While loss-of-function mutations in Gsalpha are invariably associated with the @PHENOTYPICFEATURE$ and @DISEASE$ of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of pseudohypoparathyroidism type Ia (PHP-Ia) is much more variable.	false
+9116bba60282c3f116ff5c04180ff496013fc61c	While loss-of-function mutations in Gsalpha are invariably associated with the @PHENOTYPICFEATURE$ and brachydactyly of @DISEASE$ (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of pseudohypoparathyroidism type Ia (PHP-Ia) is much more variable.	false
+bc281687711c5583647fb4ea7c47752b02da2b4f	Albright"s hereditary osteodystrophy (AHO) is a complex genetic disorder characterized by @PHENOTYPICFEATURE$, gonadotropin resistance, hypothyroidism, @DISEASE$ syndrome and heterotopic ossification.	has_symptom
+d7e380e0b32a02e719ffcf8d0b40b42ccba73742	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	has_symptom
+aa92654163a6d8c2fee9c467fce53909ecd394d7	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical @DISEASE$ caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+24cdd5cceb847cc47509243c11bfe6d66c704c90	Pseudohypoparathyroidism Ia (PHP-Ia), is an @DISEASE$ with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+1dfa244747b9a75b5e28e033d6e9e464afd52457	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+32942f5b3a760da09088596d097592cef156ee49	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical @DISEASE$ caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+636284a43bfb04ed8ec6c6018ac4349ff02f4bc8	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of @DISEASE$ (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+c24a09a691e9618a9d109b9f6c5c3d2e8199120c	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+18cd584befd7731515c07e77a45805c2c3dd77bc	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, @DISEASE$, and subcutaneous ossification.	false
+f90fa1078422b2b76d3c523ec1d5231b03c2b44a	Pseudohypoparathyroidism Ia (PHP-Ia), is an @DISEASE$ with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+933cbc01ee3bdeba81b40892a5fc2793920cc3b7	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, @DISEASE$, and subcutaneous ossification.	false
+f8f8a849d4dec72be38069084eaa7afd37e88f6b	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of @DISEASE$ (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+09dbcbd1023fbcca6c5d18560fae1df0c78c92a0	@DISEASE$ type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and @PHENOTYPICFEATURE$, termed Albright hereditary osteodystrophy (AHO).	has_symptom
+e36451abd1b37e8cc515b091042cd641e59d0ac2	Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including @PHENOTYPICFEATURE$ and @DISEASE$, termed Albright hereditary osteodystrophy (AHO).	false
+1f9cdc2611d011c35b3557d59139cdc0124dfdea	Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including @PHENOTYPICFEATURE$ and brachydactyly, termed @DISEASE$ (AHO).	false
+c0b57a70390d9a483ef292d22a58704580f799f0	@DISEASE$ type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including @PHENOTYPICFEATURE$ and brachydactyly, termed Albright hereditary osteodystrophy (AHO).	false
+6698e8ba39d7564c4a28964685f31102ae0ca9fc	Three hepatic porphyrias--acute intermittent porphyria, @DISEASE$ and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as @PHENOTYPICFEATURE$, vomiting, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors.	has_symptom
+44c5aebcb6a93f07224dbd357071e51c4fad20b1	Three hepatic porphyrias--acute intermittent porphyria, hereditary coproporphyria and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as @DISEASE$, @PHENOTYPICFEATURE$, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors.	false
+2e1d6bdcf26c17233fe5ec505288d6f9882bf99c	Three hepatic porphyrias--acute intermittent porphyria, @DISEASE$ and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as abdominal pain, @PHENOTYPICFEATURE$, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors.	false
+33df7fcd5cee25a8b4fad098952c3da41eac807c	A case of @DISEASE$ was reported, he was a 21-year-old farmer, presenting with @PHENOTYPICFEATURE$ and fever.	has_symptom
+f66ac9d507437878e147d3caa46bef7e10316e19	@DISEASE$ is a dermatological disease with polymorphous lesions characterized histologically by an eosinophilic infiltrate of the dermis with @PHENOTYPICFEATURE$ and flame figures.	has_symptom
+1755f647b26597f40aa292cee911c567d3289a02	Lesions in patients with @DISEASE$ (eosinophilic cellulitis) progress over a few days to become large indurated plaques with associated @PHENOTYPICFEATURE$ and erythema.	has_symptom
+95fc3f57c58536088b852bfdabd43e6488ff5fcf	@DISEASE$ is a distinctive dermatosis clinically resembling acute cellulitis with solid @PHENOTYPICFEATURE$; it resolves spontaneously after weeks or months without residues.	has_symptom
+1b959ecd0cefc487ba869daee77004a2cdf66a31	Characteristics of @DISEASE$ are recurrent episodes of @PHENOTYPICFEATURE$ and erythema of sudden onset, often covering large areas of the skin.	has_symptom
+32cbfd19be84622232457c451c1606c6b3ee98d0	A unique eosinophilic dermatitis with @PHENOTYPICFEATURE$ in dogs is characterized by extremely erythematous coalescing macules and plaques with associated edema, and is similar to eosinophilic cellulitis (@DISEASE$) in humans.	has_symptom
+fc2f81344e68c407cb137123c6c284e44b35edaf	A unique eosinophilic dermatitis with edema in dogs is characterized by extremely erythematous coalescing macules and plaques with associated @PHENOTYPICFEATURE$, and is similar to eosinophilic cellulitis (@DISEASE$) in humans.	has_symptom
+b0986c852fb48d80ffbfdbc675a64f4714dc5fef	@PHENOTYPICFEATURE$ is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a @DISEASE$ patient and that patient had type II TRPS.	has_symptom
+08375e81d63d32d0323473367bf66280960a6cef	@PHENOTYPICFEATURE$ is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II @DISEASE$.	has_symptom
+143b30768c8fa11b0a33af945af6ff270becf72a	Growth retardation is a feature frequently found in these patients, who commonly are of @PHENOTYPICFEATURE$; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II @DISEASE$.	false
+7d879c1ba4fced8561ddd5ac33ef6a3cc7fef1b6	@DISEASE$ is a feature frequently found in these patients, who commonly are of @PHENOTYPICFEATURE$; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS.	false
+19b500394245ba266043f102ad0f793ceaa2a20c	Growth retardation is a feature frequently found in these patients, who commonly are of @PHENOTYPICFEATURE$; however, only one case with growth hormone deficiency has been described in a @DISEASE$ patient and that patient had type II TRPS.	false
+1affdcc32062d9bd60ab32a38428f4349378698d	Trichorhinophalangeal syndrome (@DISEASE$) is a rare genodermatosis with @PHENOTYPICFEATURE$, craniofacial abnormalities, alopecia and brachyphalangia.	has_symptom
+56782ad3282204bd6a1f101841694d5bfc8e79eb	@DISEASE$ (TRPS) is a rare genodermatosis with @PHENOTYPICFEATURE$, craniofacial abnormalities, alopecia and brachyphalangia.	has_symptom
+4867c4e01f7b04b04da641a38256a07f44bf8c97	@DISEASE$ (GC) is a highly aggressive @PHENOTYPICFEATURE$.	has_symptom
+1376c6884836a0e69e664368bb69165ccee88d6c	The role of a semi-automated NanoVelcro system in capturing circulating @PHENOTYPICFEATURE$ cells and evaluating their prognostic value for @DISEASE$.	has_symptom
+49517ee7d4b9e9e3c43b5a30810b827f7ae3fedb	The major complication of this disease is @DISEASE$, a metastasizing @PHENOTYPICFEATURE$ and a true allografted malignancy.	has_symptom
+d44723e24b6ad790f9ce1b2584bbaf72d7c01667	@DISEASE$ (CCA) is a well-defined @PHENOTYPICFEATURE$, but there may be a surprising variation in its morphologic appearance.	has_symptom
+e95975a4136ffde566ebdebccc00d9dfa2e969ca	Clinical significance of circulating @PHENOTYPICFEATURE$ cells in predicting disease progression and chemotherapy resistance in patients with @DISEASE$.	has_symptom
+b366353f14f2b4b7578d007e4efc15018077d9de	@DISEASE$ is a rare malignant @PHENOTYPICFEATURE$ with a strong metastatic potential.	has_symptom
+0ca5900f5b6a803f9cfb639ee6673be466cc6ab5	Although @DISEASE$ is a rapidly invasive malignancy, metastatic invasion of this @PHENOTYPICFEATURE$ to the heart is rare.	has_symptom
+0de672c3430b7e9d74a4b935be3bf483ace070ad	The histopathological studies confirmed the presence of a recurrent @PHENOTYPICFEATURE$ with @DISEASE$ structure.	has_symptom
+dda4297d87c70c05fbc83bfafbfdbc91f084dd83	This paper describes a recent @PHENOTYPICFEATURE$ board presentation conducted at our institution involving an adolescent with @DISEASE$.	has_symptom
+eb450e3d9798606677f8dfd1a74bbfb704f73f5d	On the basis of results from these studies, one @PHENOTYPICFEATURE$, originally diagnosed as a germ cell tumor, was reclassified as a gestational choriocarcinoma, whereas a second tumor, diagnosed as @DISEASE$, was shown to be of nongestational origin.	has_symptom
+6750cbfa78912c1f4b4018bbd6835d9bb4dfda14	On the basis of results from these studies, one @PHENOTYPICFEATURE$, originally diagnosed as a germ cell tumor, was reclassified as a @DISEASE$, whereas a second tumor, diagnosed as gestational choriocarcinoma, was shown to be of nongestational origin.	has_symptom
+ce0a337c61c746ce54e34b695de519573a218090	A survey of approximately 460 patients with @DISEASE$ (PD) or multiple sclerosis (MS) shows that speech and @PHENOTYPICFEATURE$ are very frequent within these groups.	has_symptom
+fe592efa8263bcb4e08e027e5d13b44d03ca1a3c	@PHENOTYPICFEATURE$ progression and swallowing management in @DISEASE$: an observational study.	has_symptom
+4ac1ee21704c0b82bfefb3395b70095982425ae8	Common reasons for people with @DISEASE$ being unable to take their oral medications are neurogenic @PHENOTYPICFEATURE$ from progressive disease or concurrent illness, gastroenteritis, iatrogenic 'nil by mouth' status especially perioperatively, and impaired consciousness level.	has_symptom
+650b20409e6e34b3ef7c7c444083dc3c17d44488	These studies reported the following significant risk factors for malnutrition: age (OR: 1.038; P = 0.045), frailty in institutionalized persons (?: 0.22; P = 0.036), excessive polypharmacy (?: -0.62; P = 0.001), general health decline including physical function (OR: 1.793; P = 0.008), @DISEASE$ (OR: 2.450; P = 0.047), constipation (OR: 2.490; P = 0.015), poor (OR: 3.30; P value not given) or moderate (?: -0.27; P = 0.016) self-reported health status, cognitive decline (OR: 1.844; P = 0.001), dementia (OR: 2.139; P = 0.001), eating dependencies (OR: 2.257; P = 0.001), loss of interest in life (?: -0.58; P = 0.017), poor appetite (?: -1.52; P = 0.000), basal oral @PHENOTYPICFEATURE$ (OR: 2.72; P = 0.010), signs of impaired efficacy of swallowing (OR: 2.73; P = 0.015), and institutionalization (?: -1.89; P < 0.001).	has_symptom
+e69f19e179982411c99abd6d15357be05945ecac	@PHENOTYPICFEATURE$ and associated aspiration pneumonia are commonly reported sequelae of @DISEASE$ (PD).	has_symptom
+b345bba96702b8bb7c155ec716a292c33e6955b1	@PHENOTYPICFEATURE$ and dementia in subjects with @DISEASE$.	has_symptom
+c8261caf5d950545b3b141814773918c42249625	@PHENOTYPICFEATURE$ and aspiration pneumonia are two causes of morbidity in @DISEASE$ (PD).	has_symptom
+416c2e9505f340ba94465e54c07860c93e52cc1f	Comprehensive clinical evaluation in this patient revealed severe mental retardation; cranial nerve palsies; motor, reflex, and @PHENOTYPICFEATURE$; and sexual infantilism secondary to @DISEASE$.	has_symptom
+936814bfe3f2a3f84b55b02809209471338d0281	Comprehensive clinical evaluation in this patient revealed @PHENOTYPICFEATURE$; cranial nerve palsies; motor, reflex, and @DISEASE$; and sexual infantilism secondary to hypogonadotropic hypogonadism.	false
+8fd7b2b765c84c0d65f9f769ae42deb63dface24	Comprehensive clinical evaluation in this patient revealed @PHENOTYPICFEATURE$; cranial nerve palsies; motor, reflex, and gait disturbances; and sexual infantilism secondary to @DISEASE$.	false
+7cace20928493b01f94d720066618fbdc7ee3f94	Nestin-mediated MYC expression in the epithelial cells of choroid plexus leads to the regionalized formation of @DISEASE$ in the posterior domain of the lateral ventricle choroid plexus and the fourth ventricle choroid plexus that is accompanied by loss of multiple cilia, up-regulation of protein biosynthetic machinery, and @PHENOTYPICFEATURE$.	has_symptom
+7757c1747d3735cb9db262f9f3ce24e7adf26798	[@DISEASE$: a dysmorphism syndrome with developmental delay, transitory @PHENOTYPICFEATURE$, hyperactive behavior and atopic dermatitis].	has_symptom
+86c1ec9a2185a15fc646914208ddf4cef6bc041f	@DISEASE$ (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/@PHENOTYPICFEATURE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	has_symptom
+b1256b24ddc49901454932222847922495d8b050	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/@DISEASE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+52ae71b13c559cace6b1aa2bea4e441fe68928a1	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple @DISEASE$ including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @PHENOTYPICFEATURE$, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+e2b3d71081aba43b5778f384369f197e844d8acc	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/@DISEASE$; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @PHENOTYPICFEATURE$, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+8702a0b3407a6707f9be23e2514a68972c933061	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @PHENOTYPICFEATURE$, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, @DISEASE$.	false
+223f9324a396dcc64ba6be4c8b9c9ba4243ce9c7	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, @DISEASE$.	false
+b9aea33ce3df5109be3ba250134656fbf7a51209	Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple @DISEASE$ including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+285247b4ea575325d0147df941582b61c85f2e4e	@DISEASE$ (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) @PHENOTYPICFEATURE$; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+1bcab161075e9b37718871bf42e4fff4c530b2ec	@DISEASE$ (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, @PHENOTYPICFEATURE$, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema.	false
+3348f37e037239702f9bc32249270ea20b02ecc0	@DISEASE$ was described in 1965 as a recognizable syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, eczema, mild developmental delays, and an increased risk of malignancy.	has_symptom
+f3a43fa176f828ddcf9fc7642742e032ab1ce91c	Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, eczema, mild developmental delays, and an increased risk of malignancy.	false
+a8ee481e218a084c79fab635c019a0f789feecfd	@DISEASE$ was described in 1965 as a recognizable syndrome characterized by @PHENOTYPICFEATURE$, short stature, eczema, mild developmental delays, and an increased risk of malignancy.	false
+e67958543bbf2bb2d3c830269ba114f0598ea3c6	Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by @PHENOTYPICFEATURE$, short stature, @DISEASE$, mild developmental delays, and an increased risk of malignancy.	false
+2a1c26d36b8fa3abe2a0fbaf47d8760891f3ef93	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	has_symptom
+4ccc4d37bf5efc538d56d4dc889c9e093cf34d34	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+cf3b9f636b856008299b18374a6d3bd7554747d1	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+a8ba262015629621d638d952edf63bf90101f216	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+007513542784ced7e5250c9f13918ba09fc1d3d9	@DISEASE$ is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+d400965c51d3b63e62eb59c201d0036f07bc7ac7	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+b5357e453b017deaf54d9799f622c5be02698a33	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+8ba2f108444c830cdb19a2e9739b6de11cdc1cd4	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @DISEASE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+48457142f1268480c8513035a9364708111a5531	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+cee24179f93420062c6d27155d8b59a8be98648a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+115c6150924a96b8944b457bbf3284c01363a2d7	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+44244caa593a09bc7e9a3a487547cdaf92d87e6f	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+c08143b48959f839c1c7db5e9de17b217dcfa541	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+38adc3b7017858492b842a589ec1d0643b765bc3	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+4d484f5a061ad0fbdc8239c28e01c0b4c50ebbc5	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+dba5253472138d66b2056d2fa6425217fd2bd487	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @DISEASE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+ae9f5654b2afe70974e08b3814fcc74a991c09f4	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+1a40b80af3fd04d8310534489371cd28c7666614	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+fc608b7b9f9d8740b5cf2050c1a0c18a14cf208c	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+571255a180b2f939b9b47dfb61d9028caac54428	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+e14d117f65b65dff7998243c8ac0b66dba7fec14	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+f4cf8301b4743628c5c37f0942d5f4bd58fea1f6	@DISEASE$ is a rare autosomal recessive disorder characterized by micorcephaly, @PHENOTYPICFEATURE$, abnormal faces, and mild to severe mental retardation.	has_symptom
+a052ab17c5c33709e9abef36794a22e64e0ba6f5	@DISEASE$ is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to @PHENOTYPICFEATURE$.	false
+f5954fde7e7babb314a619e59ec3171646183467	Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, @DISEASE$, abnormal faces, and mild to @PHENOTYPICFEATURE$.	false
+09b01df6b467c7ab44afc7a34ae8209556675a45	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, and psychomotoric retardation.	has_symptom
+0e36cf2dddf9d30470107d31246ad5bb7c57a55e	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+9b09fdc15b3ebea900d4aef675816fb21606d971	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, @DISEASE$, microcephaly, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+31e067abba5a0b8aad0d5dff7d8e5a06fb415a12	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by @DISEASE$, short stature, @PHENOTYPICFEATURE$, distinct facial dysmorphism, and psychomotoric retardation.	false
+a1096d16818919e33d156207ea85f60187af1624	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, distinct facial dysmorphism, and psychomotoric retardation.	false
+ede3f298802a3cc7373dd10fd59891205ee53b3e	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by @DISEASE$, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+483e91e4de9e8d11f039b58aa2baec949bfa5f6e	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, @PHENOTYPICFEATURE$, distinct facial dysmorphism, and psychomotoric retardation.	false
+1d7f405971499ec5672082724d928db0dc70c73c	To date, the genetic basis of @DISEASE$ (@PHENOTYPICFEATURE$, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome.	has_symptom
+1cc3102fdba77b28c31f2c2b98eed1d77066af6a	To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$) is unknown and vascular complications are not known to be associated with this syndrome.	false
+8f503031922ca6f62c01cf1dba154e4782b51c8f	To date, the genetic basis of Dubowitz syndrome (short stature, @PHENOTYPICFEATURE$, facial abnormalities, @DISEASE$) is unknown and vascular complications are not known to be associated with this syndrome.	false
+d6fc9fe877e7a505261060d6bf0056b82c4042f7	To date, the genetic basis of Dubowitz syndrome (@DISEASE$, @PHENOTYPICFEATURE$, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome.	false
+c698b79e94be8d908cea1aa813f4985c0edb9a5d	To date, the genetic basis of @DISEASE$ (short stature, @PHENOTYPICFEATURE$, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome.	false
+111ef45b83fa2c27b92eea2b82dd3b9791967825	To date, the genetic basis of Dubowitz syndrome (@DISEASE$, microcephaly, @PHENOTYPICFEATURE$, eczema) is unknown and vascular complications are not known to be associated with this syndrome.	false
+8b6cbe41c8b352382cc4e033ebf7a955ff481dd4	To date, the genetic basis of @DISEASE$ (short stature, microcephaly, @PHENOTYPICFEATURE$, eczema) is unknown and vascular complications are not known to be associated with this syndrome.	false
+56111153456fea49df7276fd72a08fab5a7be167	Autosomal recessive inheritance, intrauterine growth retardation, @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare @DISEASE$.	has_symptom
+b933d1986859de9aa40f0980052536ad266fe1a6	Autosomal recessive inheritance, @DISEASE$, short stature, @PHENOTYPICFEATURE$, distinct facial dysmorphism, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare Dubowitz syndrome.	false
+b51e74e0f49b113a046d9be3cc2dcd726178c082	Autosomal recessive inheritance, intrauterine growth retardation, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare @DISEASE$.	false
+c9bae42e69ccaa53aedd1d816af01f79f72d3c44	Autosomal recessive inheritance, intrauterine growth retardation, short stature, @PHENOTYPICFEATURE$, distinct facial dysmorphism, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare @DISEASE$.	false
+8223c587479d0058395b6a55813fbe6b14f6fc24	Autosomal recessive inheritance, intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, distinct facial dysmorphism, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare Dubowitz syndrome.	false
+4f1d76af8cfbf95d3bf7f0865f09e7072d55804a	Autosomal recessive inheritance, @DISEASE$, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare Dubowitz syndrome.	false
+cc72f6f7ce7c44ef4915df19cd502585a3ce87f5	Autosomal recessive inheritance, intrauterine growth retardation, @DISEASE$, microcephaly, distinct @PHENOTYPICFEATURE$, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare Dubowitz syndrome.	false
+3e490cfd994a0cbce2f94bde28dfbe78b57e591c	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-@PHENOTYPICFEATURE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or @DISEASE$) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	has_symptom
+08c037933e1486cdf1db019f94105c9b8402690a	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island @DISEASE$ or Tattoo dysplasia) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+1b912fab84a3a8b7488f7bd429c505530429e769	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or @DISEASE$) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+f965ea694581a3e61e8e90818e32e9ca2b91b2b2	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-@DISEASE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+78d608299f798b0c3c6c6e0ab3f72ff6f67f472e	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the @DISEASE$-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+cf016172277a09bf5ea4b02a566613c51c717124	@PHENOTYPICFEATURE$ in @DISEASE$: a voxel based morphometric study.	has_symptom
+6d039c0e88e5eefe39a5874200a70beb517afea8	Patients with @DISEASE$ show @PHENOTYPICFEATURE$.	has_symptom
+e6e19bce1507dd6673e40dcc8b9cb9222e644bae	At post-mortem clinical examination, the diagnosis of @DISEASE$ was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a @PHENOTYPICFEATURE$.	has_symptom
+a575d7f2aa0ad2c9a3adccddfbad0702db5b24db	At post-mortem clinical examination, the diagnosis of @DISEASE$ was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, @PHENOTYPICFEATURE$, and a cleft palate.	false
+695aad0837b6adf4458e1fa6c8ec4b7aa824fbca	At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, @PHENOTYPICFEATURE$, and a @DISEASE$.	false
+d8a2ff8554f623b581acd83276e5accb9b8ff55f	Forty-one of 95 Finnish patients (43%) with @DISEASE$ had open @PHENOTYPICFEATURE$ (CP).	has_symptom
+220d5f1e529a911c8e2706a7bc0e214f8ee5c792	We report on a 75-year-old woman who presented with recurrent episodes of @PHENOTYPICFEATURE$, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of @DISEASE$ (SCLS).	has_symptom
+881e748f520b53b06fa822d1ec359c0bed20d614	We report on a 75-year-old woman who presented with recurrent episodes of @PHENOTYPICFEATURE$, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (@DISEASE$).	has_symptom
+5d45fc7a941059a2ba8dba29e9ab378b269842bc	We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, @PHENOTYPICFEATURE$, hypoalbuminaemia without @DISEASE$, suggestive of systemic capillary leak syndrome (SCLS).	false
+e1c9606e9067623d8ef636cd4c89ee88ec942195	We report on a 75-year-old woman who presented with recurrent episodes of @DISEASE$, anasarca, @PHENOTYPICFEATURE$, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (SCLS).	false
+0e1bfd74cfb6721020f369eabe534783d39d8352	We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, @PHENOTYPICFEATURE$, hypoalbuminaemia without proteinuria, suggestive of @DISEASE$ (SCLS).	false
+20137830fa938ff48701404a5d2562d3cf55cac8	We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, @PHENOTYPICFEATURE$, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (@DISEASE$).	false
+1ff8fb8d2f9b06979dd8e24ca794976a900222ed	Idiopathic @DISEASE$ (ISCLS) is rarely seen, and presents with recurrent episodes of @PHENOTYPICFEATURE$, shock, hemoconcentration, and hypoproteinemia.	has_symptom
+3c721359a6a84e88af102896c480a7698e2c9970	Because fever and raised inflammation parameters are not observed in idiopathic capillary leak syndrome (SCLS; @DISEASE$), a diagnosis of SCL-like syndrome was made.Albumin solution, high-dose methylprednisolone and intravenous immunoglobulins (IVIG) infusion were administered with a rapid improvement of her clinical condition.The prompt treatment with steroids and IVIG likely prevented the life-threatening shock syndrome that can occur in SCLS, with acute @PHENOTYPICFEATURE$ attacks, and severe limbs edema requiring fasciotomy.All clinical and laboratory findings supported autoinflammation as the underlying pathogenic mechanism of the syndrome.	has_symptom
+c67c5d2c24b2d423d721e71d7525d7e50ed2d0f4	Because fever and raised inflammation parameters are not observed in @DISEASE$ (SCLS; Clarkson disease), a diagnosis of SCL-like syndrome was made.Albumin solution, high-dose methylprednisolone and intravenous immunoglobulins (IVIG) infusion were administered with a rapid improvement of her clinical condition.The prompt treatment with steroids and IVIG likely prevented the life-threatening shock syndrome that can occur in SCLS, with acute @PHENOTYPICFEATURE$ attacks, and severe limbs edema requiring fasciotomy.All clinical and laboratory findings supported autoinflammation as the underlying pathogenic mechanism of the syndrome.	has_symptom
+697573dd6a593e9f9e3592562fc503922842a62a	Because fever and raised inflammation parameters are not observed in idiopathic capillary leak syndrome (@DISEASE$; Clarkson disease), a diagnosis of SCL-like syndrome was made.Albumin solution, high-dose methylprednisolone and intravenous immunoglobulins (IVIG) infusion were administered with a rapid improvement of her clinical condition.The prompt treatment with steroids and IVIG likely prevented the life-threatening shock syndrome that can occur in SCLS, with acute @PHENOTYPICFEATURE$ attacks, and severe limbs edema requiring fasciotomy.All clinical and laboratory findings supported autoinflammation as the underlying pathogenic mechanism of the syndrome.	has_symptom
+0f30b3041aca8807aa541621a448b594faec5977	Significantly, SEMA7A is deleted in individuals with @DISEASE$, characterized by developmental delay, @PHENOTYPICFEATURE$, and sensory perceptual deficits.	has_symptom
+34ececd3925339d7e46e9f1c66fd6213a535b424	In addition, cDNA screening of all relevant patients with autosomal recessive @PHENOTYPICFEATURE$, spinal muscular atrophy or limb-girdle muscular dystrophy facilitated the correct diagnosis of @DISEASE$ in three patients.	has_symptom
+f31552d51c5a9475824422ec6ebf8eb7d0a6c687	Aberrant expression of the dystrophin-associated protein complex is thought to underlie the pathogenesis of Duchenne dystrophy, @DISEASE$, and severe childhood autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+f5c406a63ceddc1d0e0c47c50dc5480fa5c4a905	These include Duchenne muscular dystrophy (DMD), symptomatic DMD carriers, @DISEASE$ and severe childhood autosomal recessive @PHENOTYPICFEATURE$ with DMD-like phenotype prevalent in North Africa.	has_symptom
+3f1edd8c2471c004c50047cc8ddfc0574477b73d	Furthermore, our observations suggest that sevoflurane may have some advantages in patients with progressive type @PHENOTYPICFEATURE$ other than Duchenne muscular dystrophy and @DISEASE$.	has_symptom
+7bb2245015d891e646ef7d59292e6fbce171a2e3	Their muscle immunohistochemistry differed from that seen in Duchenne and Becher muscular dystrophy (DMD and @DISEASE$), severe childhood autosomal recessive @PHENOTYPICFEATURE$ (SCARMD) due to sarcoglycan deficiency (sarcoglycanopathies), and lamininalpha2 (merosin)-deficient CMD.	has_symptom
+c4bfe1619fb2cd948f0ee8ffaf1593f609819ae6	These conditions can be grouped as Limb girdle muscular dystrophy (LGMD), Decker muscular dystrophy (@DISEASE$), early onset Duchenne muscular dystrophy (DMD), Congenital muscular dystrophy (CMD), Severe childhood autosomal recessive @PHENOTYPICFEATURE$ (SCARMD), and SCARMD in girls/manifesting DMD carriers.	has_symptom
+ff1f4139d9fd2ebe973d0fbdb615712d8e27f178	These results suggest that the dystrophin expression is abnormal in this group of children and that this type of abnormalities can not be differentiated from early @DISEASE$ nor childhood autosomal recessive @PHENOTYPICFEATURE$ through immunohystochemistry alone.	has_symptom
+1103cca7d1445ac26823ddae05be300635f2c8de	@DISEASE$ is characterized by generalized gastrointestinal polyps associated with hyperpigmentation, @PHENOTYPICFEATURE$, and onycholysis.	has_symptom
+300617e517e6dab3a239fd3766377380bb8c00d1	We report the difficult management of 59 year old female HCV patient presenting cutaneous lesions and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+c415062de6935fd83ed43f72a72765a1a99aeb06	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, @PHENOTYPICFEATURE$, and kyphoscoliosis.	has_symptom
+e09618ac8e5657775c397aa9fce670725d00b45f	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, @PHENOTYPICFEATURE$, @DISEASE$, and kyphoscoliosis.	false
+8b20b254c7af01bb28b010ede267d9af7ef75d80	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, @PHENOTYPICFEATURE$, growth delay, and kyphoscoliosis.	false
+38f295dcde3c57c8465765a7dec0287862c623cf	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @PHENOTYPICFEATURE$, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis.	false
+22c2b96131649421f3f8fa054637fc2f49d256f9	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @PHENOTYPICFEATURE$, normal extraocular movements, cleft palate, @DISEASE$, and kyphoscoliosis.	false
+64524897a7481b7616db8d07162b3ffa9ab256c9	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or telecanthus, micrognathia, hypoplastic mandible, and low-set ears.	has_symptom
+4fe6ca4aee84067c25aec0fc47b4bea99d523843	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @DISEASE$ or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+0d04c31c666596f693827d0f80affbf1fc8e21de	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or @DISEASE$, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+a0f2f437c9b71e215c5f9b87326fca0e69dcdb9b	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or @DISEASE$, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+aaf4e442d884d951b21227805c8017d7be9c165e	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+6cd234df31ed2962899910995344f77589a2210b	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+9e9949297ddf466365738e67c2c6f1d1cef55c5c	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @DISEASE$ or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+6b480aa8d7580b9a1bd1453a9563c296ae620ad7	We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, @PHENOTYPICFEATURE$, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the @DISEASE$ (OFDS).	has_symptom
+25c6b220fef644abc64c86c48c1d91dc22d64aa9	We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior @PHENOTYPICFEATURE$, @DISEASE$, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS).	false
+7e485b67a97963da0c8f2de02df4927558b9b76c	We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior @PHENOTYPICFEATURE$, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the @DISEASE$ (OFDS).	false
+fdc4d4c6d7355a46224bfc33ec0dc51d868dc2cf	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	has_symptom
+a78d36a8bd6f992508d35c0a7172c2603ab65b0d	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @DISEASE$; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+b34260a45dc451e4f5489647d1b5ae75a4994b2c	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+1a1b53a512dff594db0e90fced0a39f19ed56bf7	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @DISEASE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+59f8736c816b4dcd02125c6d97bd6110db357acf	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @DISEASE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+a5ec3c1af96a2f0ce4de15df9418900ad591ea05	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+16883c0d047a9a92c271ab41faef36c6bc597a40	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+d88d951ebcee505c1ee1781034a94d6654d417ef	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+ffb5e91240d350dc0bfea139f5cb7175cacdb31f	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+2efb411f80f33ba1463ae7a9b5d3bd19bd7b818d	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+7dbb7b50e9420420310f8bc5bd8cb507f791f24f	Furthermore, these mice exhibited marked hypotonic polyuria, @PHENOTYPICFEATURE$, and renal unresponsiveness to an antidiuretic hormone, vasopressin, all of which are characteristics consistent with @DISEASE$.	has_symptom
+518208905093550cac04647283ca4da3d6e9ccc5	Early onset torsion dystonia (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.	has_symptom
+6cbc39df34ca10e3ddc20cddfada46213d2ea334	@DISEASE$ (EOTD) is a rare @PHENOTYPICFEATURE$ characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.	has_symptom
+beb820e85263198281551db603754c9bf977eb5e	@DISEASE$ dystonia is an autosomal-dominant @PHENOTYPICFEATURE$ characterized by abnormal, often repetitive, movements and postures.	has_symptom
+62394e371b0cf380862f0b418495781a6ae034db	@DISEASE$ are rare @PHENOTYPICFEATURE$.	has_symptom
+4b0d5a7471400ca6bf5b9494c4f11c843d038bda	Mutations in torsinA underlie @DISEASE$, an autosomal dominant, neurologically based @PHENOTYPICFEATURE$.	has_symptom
+6017449372a5c992901d0ff49fc8389f6eeb9c3e	DYT1 early-onset generalized torsion dystonia (@DISEASE$ dystonia) is an inherited @PHENOTYPICFEATURE$ caused by mutations in one allele of DYT1 (TOR1A), coding for torsinA.	has_symptom
+69dbe31bee8937ac53e4f4fb0e394696fd891bb7	DYT1 @DISEASE$ (DYT1 dystonia) is an inherited @PHENOTYPICFEATURE$ caused by mutations in one allele of DYT1 (TOR1A), coding for torsinA.	has_symptom
+badd62188b6e53aa521fbccc68a0191980d73879	@DISEASE$ is a clinically and genetically heterogeneous @PHENOTYPICFEATURE$.	has_symptom
+505ceaeb3fb1a1a9edb7d6443eb29f44c45b1bbb	DYT1 @DISEASE$ is a hereditary @PHENOTYPICFEATURE$ characterized by abnormal postures and repeated movements.	has_symptom
+1fedbce9da47036b95bf3e6828e6bce5dbd78b62	@DISEASE$ is a chronic, disabling @PHENOTYPICFEATURE$.	has_symptom
+c6fb6ae0e987b36487240bb18cab7113244ec6ff	@DISEASE$, also known as DYT1 dystonia, is a childhood onset heritable neurological @PHENOTYPICFEATURE$ involving painful, involuntary muscle contractions, sustained abnormal postures, and repetitive movements.	has_symptom
+2006c0fb5bd1dc804b8b69a0983a277dd1aada7c	Early-onset generalized torsion dystonia, also known as @DISEASE$ dystonia, is a childhood onset heritable neurological @PHENOTYPICFEATURE$ involving painful, involuntary muscle contractions, sustained abnormal postures, and repetitive movements.	has_symptom
+0d16b3bd42dfb7aa897e51becd67780aedde9fc4	TorsinA is the causative protein of @DISEASE$ dystonia, a major representative of hyperkinetic @PHENOTYPICFEATURE$.	has_symptom
+b85579af3abf219ae2b594422f70ee5f21fe3969	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @PHENOTYPICFEATURE$, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	has_symptom
+570336abacb5802ad4e14fb82d7101b0f5acc8bd	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, microcephaly, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+b4fb08af8e8962ff2af16d6b5801ea553c98831c	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+0c3c2ac4d83e5f3098d1a387d33f80edc5cccd72	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented @DISEASE$ lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+bd43c540e1153181042b809221e3784bf7c81c9e	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, microcephaly, large prominent eyes, a narrow nasal bridge, a tented @DISEASE$ lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+3aedb4ef5c79e256812fd275b2ce3086eeb9a143	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, @DISEASE$, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+5eec12f6ed432c9a330e5f3c099392beba0b03ca	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @DISEASE$, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+1d07901c4232b60ab7f30415ba68cae018d8e3ae	@DISEASE$ (GGM) is a rare autosomal recessive disorder of intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, @PHENOTYPICFEATURE$, or early death.	has_symptom
+c261d403e7c2500eee86fc155970cd07fc8ed532	Congenital @DISEASE$ is a rare autosomal recessive disorder of the intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, @PHENOTYPICFEATURE$, and early death.	has_symptom
+e442d68592a7f480b31ef41f0d9bb38c17d82ead	In addition to AD, an increasing number of neurodegenerative disorders, including Parkinson's disease, familial British @PHENOTYPICFEATURE$, @DISEASE$, amyotrophic lateral sclerosis, and prion diseases, are associated with abnormal protein assembly processes.	has_symptom
+c54ba128defce3fcd205efe5fe92e360348cfd34	@DISEASE$ (FED) in humans is characterized by @PHENOTYPICFEATURE$ and markedly decreased plasma concentrations of high-density lipoprotein (HDL) cholesterol, apolipoprotein (apo) AI, and apo All, but no tendency to precocious atherosclerosis is present.	has_symptom
+81c4d1ead75ac99c92adc2db3c2a3729f47168bc	Fish-eye disease (@DISEASE$) in humans is characterized by @PHENOTYPICFEATURE$ and markedly decreased plasma concentrations of high-density lipoprotein (HDL) cholesterol, apolipoprotein (apo) AI, and apo All, but no tendency to precocious atherosclerosis is present.	has_symptom
+db1406d677fbb3aa3b081ad568fbbb2311078d34	Patients with FLD and @DISEASE$ frequently present with @PHENOTYPICFEATURE$, anemia and renal failure with proteinuria.	has_symptom
+fecce44effe448cb49425d9586caffd672ba4b24	Patients with FLD and fish-eye disease frequently present with @DISEASE$, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+b82ca0c631ea292cedd4f92a0d72f3052673995a	Patients with FLD and fish-eye disease frequently present with corneal opacity, @DISEASE$ and @PHENOTYPICFEATURE$ with proteinuria.	false
+b431cbde376048a23016ac2365bd13446d1d3ad7	Patients with @DISEASE$ and fish-eye disease frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+f593c5a357a0397bf9205b1964ae237fca9f0c48	Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+653fa5cbd94e81f88aac24ff1e5c784a4db6daf5	Patients with FLD and @DISEASE$ frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+f8ddb0286dff91dc99626c8480d774b3b6036ce6	@DISEASE$ is a familial condition characterized by @PHENOTYPICFEATURE$ and dyslipoproteinaemia with, i.a., pronounced enrichment of plasma low density lipoprotein (LDL) with triglycerides.	has_symptom
+8a95be7448217aff1090dfc77ff1d245a0d18a16	The functional abnormalities of LCAT are known to cause two diseases characterized by severe @PHENOTYPICFEATURE$; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, renal failure, and fish eye disease (@DISEASE$) without any other severe symptoms.	has_symptom
+d0b37093a68fb3e5f634335a9854b77b8c866a4a	The functional abnormalities of LCAT are known to cause two diseases characterized by severe @PHENOTYPICFEATURE$; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, renal failure, and @DISEASE$ (FED) without any other severe symptoms.	has_symptom
+a01e213ab496c1de10a220065bd48242283740b7	The functional abnormalities of LCAT are known to cause two diseases characterized by severe @DISEASE$; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, @PHENOTYPICFEATURE$, and fish eye disease (FED) without any other severe symptoms.	false
+eeb5c64ac7e1a37553f692c8ae13b07ff3874482	The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with @DISEASE$ and frequently, though not invariably, @PHENOTYPICFEATURE$, and fish eye disease (FED) without any other severe symptoms.	false
+948010db18ac389a375c8c60f98990b5d3cb5840	The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, @PHENOTYPICFEATURE$, and fish eye disease (@DISEASE$) without any other severe symptoms.	false
+ea9169cc0fb9fa06ad9b65a319f31ef96cf4adc2	The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, @PHENOTYPICFEATURE$, and @DISEASE$ (FED) without any other severe symptoms.	false
+0dc2f38e8de4bbc4540dc34f70245c83cf3f4a9f	The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial @DISEASE$ that is accompanied with anemia and frequently, though not invariably, @PHENOTYPICFEATURE$, and fish eye disease (FED) without any other severe symptoms.	false
+6ef72e06df543bfab2474156895ec296ced4553e	@DISEASE$: a new familial condition with massive @PHENOTYPICFEATURE$ and dyslipoproteinaemia.	has_symptom
+e7601dc220bf8e1b69bce5984611cba19858a0b1	@DISEASE$, which is characterized by @PHENOTYPICFEATURE$ and plasma lipoprotein abnormalities, is also a result from deficiency of LCAT activity.	has_symptom
+2087c1d86caafab681d64948bb9412afe99304f5	Our data suggest that the Val156Glu substitution is associated with apoA-I and HDL deficiency, @DISEASE$, and @PHENOTYPICFEATURE$ and that Val156 of apoA-I may play an important role in apoA-I function.	has_symptom
+691911e54bf011f213a21120f6d38255f232f537	A 36-year-old Japanese woman with @DISEASE$ presented with bilateral @PHENOTYPICFEATURE$ and visual complaints.	has_symptom
+ac87dd28b608c270a4d1f6805ef5b6cd4289124f	We have identified the molecular defect in two siblings presenting with classical clinical and biochemical features of Fish Eye disease (@DISEASE$), including @PHENOTYPICFEATURE$, HDL cholesterol < 10 mg/dl, normal plasma cholesteryl esters, and elevated triglycerides.	has_symptom
+5cab4c2d651205c04e815f8e0c8bc884967267bd	Only three cases of @DISEASE$ have been described; all were elderly and had obvious @PHENOTYPICFEATURE$.	has_symptom
+f31339f00d186877f9cc9a4d37a1e4895fb275d6	Cardiac involvement in systemic @DISEASE$ (SS) and isolated cardiac sarcoidosis (iCS) are associated with @PHENOTYPICFEATURE$ and severe heart failure (HF) and have a poor prognosis.	has_symptom
+b0ef5cc4c8530456a8b468c180acc3b803a3d074	Cardiac involvement in systemic sarcoidosis (SS) and isolated cardiac sarcoidosis (iCS) are associated with @DISEASE$ and severe @PHENOTYPICFEATURE$ (HF) and have a poor prognosis.	false
+66eb8cf193150eea9a7ec1efebaccc004bec1482	Cardiac involvement in systemic sarcoidosis (SS) and isolated @DISEASE$ (iCS) are associated with arrhythmia and severe @PHENOTYPICFEATURE$ (HF) and have a poor prognosis.	false
+ea8604ea21dbccfc91ce59d587bfc8ba5586b0ea	Cardiac involvement in systemic @DISEASE$ (SS) and isolated cardiac sarcoidosis (iCS) are associated with arrhythmia and severe @PHENOTYPICFEATURE$ (HF) and have a poor prognosis.	false
+0e1f0ca8fc3657392aa449309f31606acdf40f33	The prognosis of myocardial @DISEASE$ is poor and depends on @PHENOTYPICFEATURE$, conduction disorders.	has_symptom
+dae02b0010e4a7d830014deaf4aa33b7d8938484	@DISEASE$ heart disease: a rare cause of chest pain and malignant @PHENOTYPICFEATURE$ in a young Asian man.	has_symptom
+91dbf9acbde3dfe06a4605b01ff92aebdcaefbe3	We classified their phenotype as a new intermediate form between @DISEASE$ and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/@PHENOTYPICFEATURE$, mild brachydactyly, proximally placed thumbs and clinodactyly of the fifth fingers.	has_symptom
+029281cbf23713b2ac78768f0a4246a23754b89d	We classified their phenotype as a new intermediate form between diastrophic dysplasia and @DISEASE$, manifested by shortening of stature, metatarsus adductus/club foot, mild @PHENOTYPICFEATURE$, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+d249508a1deb3f56a606e2c131896232f9c2d87e	We classified their phenotype as a new intermediate form between diastrophic dysplasia and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/@DISEASE$, mild @PHENOTYPICFEATURE$, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+00d2fb2ddbcaae5e2104a900735e59f811464a9d	We classified their phenotype as a new intermediate form between @DISEASE$ and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/club foot, mild @PHENOTYPICFEATURE$, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+f8914eabdb2cf0e72a993a0fba0c5b800b1a57d1	In addition to the rhizomelic shortening of the limbs and severe @PHENOTYPICFEATURE$ deformity, which suggest the diagnosis of @DISEASE$, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy.	has_symptom
+b25ab9e1b9e3970bd7edcf30bd1de6d0e3455bb6	A homozygous R279W mutation was recently found in the @DISEASE$ sulfate transporter gene, DTDST, in a patient with MED who had a @PHENOTYPICFEATURE$ and double-layered patella.	has_symptom
+2e1d6bdcf26c17233fe5ec505288d6f9882bf99c	Three hepatic porphyrias--acute intermittent porphyria, @DISEASE$ and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as abdominal pain, @PHENOTYPICFEATURE$, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors.	has_symptom
+a543889c3c1f7f9aeb1a6971c28a167d0d60ef33	Three hepatic porphyrias--acute intermittent porphyria, hereditary coproporphyria and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as @PHENOTYPICFEATURE$, @DISEASE$, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors.	false
+6698e8ba39d7564c4a28964685f31102ae0ca9fc	Three hepatic porphyrias--acute intermittent porphyria, @DISEASE$ and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as @PHENOTYPICFEATURE$, vomiting, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors.	false
+da0e880be1d14a3769b11daf1cc035f70c1c7ede	In patients with acute intermittent porphyria, @DISEASE$, and variegate porphyria, autonomic symptoms such as abdominal pain, @PHENOTYPICFEATURE$, hypertension and tachycardia are among the most prominent clinical manifestations.	has_symptom
+8135a331225633ed8a716a0480906e69ced97e84	In a patient who developed clinical signs of intracranial hypertension, bilateral papilledema and diplopia, in association with mild hypotension, hyponatremia and @PHENOTYPICFEATURE$, the hypothesis of @DISEASE$ was raised and confirmed.	has_symptom
+10fcfc1b19f54c63f91001c3d0b16275a6dd0210	In a patient who developed clinical signs of intracranial hypertension, bilateral papilledema and @PHENOTYPICFEATURE$, in association with mild hypotension, hyponatremia and hyperkalemia, the hypothesis of @DISEASE$ was raised and confirmed.	false
+14ea82f7d9ceeb6b8aea312b44d528486054e940	In a patient who developed clinical signs of intracranial hypertension, bilateral papilledema and @PHENOTYPICFEATURE$, in association with mild @DISEASE$, hyponatremia and hyperkalemia, the hypothesis of Addison's disease was raised and confirmed.	false
+7a195393ab28a6348dc25f37c3ac1578fdbc4cab	In a patient who developed clinical signs of intracranial hypertension, bilateral papilledema and @PHENOTYPICFEATURE$, in association with mild hypotension, hyponatremia and @DISEASE$, the hypothesis of Addison's disease was raised and confirmed.	false
+cd398211cba71e78af24a9fe77f9be04f251a21b	The diagnosis of @DISEASE$ is usually suspected in the presence of hyponatremia and @PHENOTYPICFEATURE$, or when adrenal crisis develops.	has_symptom
+33744df8937fbc4bc404bf27b101bee7d8ecfcee	It was not detected in renal tissue from patients with diabetic nephropathy, @PHENOTYPICFEATURE$ nephrosclerosis, thin basement membrane nephropathy, or @DISEASE$.	has_symptom
+af9574b0e3e2c201dbd7d7cc25bece673d39d385	The main causes of CKD were 29.8% diabetic nephropathy, 19.9% chronic glomerulonephritis, 16.3% @PHENOTYPICFEATURE$ nephrosclerosis, 14.0% unknown, 5.3% amyloidosis, 4.7% autosomal-dominant polycystic kidney disease, 4.1% chronic tubuluointerstitial nephritis, 3.5% malignancies, 1.7% benign prostatic hypertrophy, 0.6% @DISEASE$.	has_symptom
+1e46ec78d7c35222c72aa59e8cecde24571c8b28	However, individuals with dup(1q), del(15q), and @DISEASE$ share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, @PHENOTYPICFEATURE$, renal anomalies.	has_symptom
+5fe7e4ba7956cf4772417629bae4e685480e2a39	However, individuals with dup(1q), del(15q), and Russell-Silver syndrome share common manifestations (i.e., low birth weight, @PHENOTYPICFEATURE$, triangular face, low set/abnormal ears, @DISEASE$, renal anomalies.	false
+93d55a119dc87f341faec063bf70efde82bc110c	However, individuals with dup(1q), del(15q), and Russell-Silver syndrome share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, @DISEASE$, @PHENOTYPICFEATURE$.	false
+5d5b14007f87c9df30f86a13c7d2d7ee33fc4eb5	However, individuals with dup(1q), del(15q), and @DISEASE$ share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, @PHENOTYPICFEATURE$.	false
+8282ad1e94c89e7233297fcbe45b2427a73d3f43	However, individuals with dup(1q), del(15q), and @DISEASE$ share common manifestations (i.e., low birth weight, @PHENOTYPICFEATURE$, triangular face, low set/abnormal ears, micrognathia, renal anomalies.	false
+a0855e4a239f1b7e40312a6237d34609a8ad66f1	In this report, a patient with @DISEASE$ and severe @PHENOTYPICFEATURE$ was treated by means of distraction osteogenesis of the midsymphysis to widen the mandible in concert with sagittal-ramus osteotomies to lengthen the mandible.	has_symptom
+d34f88e430b55c73a042d7477197e9a2aa204471	The main clinical features are mild intellectual deficiency, growth retardation, and a typical @DISEASE$ (SRS) appearance with small triangular face, prominent forehead, @PHENOTYPICFEATURE$, low-set ears, and clinodactyly.	has_symptom
+9fb4e99d827fd889f778deba0c24bbff3a6a866d	The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver-Russell syndrome (@DISEASE$) appearance with small triangular face, prominent forehead, @PHENOTYPICFEATURE$, low-set ears, and clinodactyly.	has_symptom
+de9eb070a17cb8d27f46643b63182b2bfc878627	The main clinical features are mild intellectual deficiency, @PHENOTYPICFEATURE$, and a typical Silver-Russell syndrome (SRS) appearance with small triangular face, prominent forehead, @DISEASE$, low-set ears, and clinodactyly.	false
+14e2833ba2e7314cdf24fd6f12e3fa652441ac7e	The main clinical features are mild intellectual deficiency, @PHENOTYPICFEATURE$, and a typical Silver-Russell syndrome (@DISEASE$) appearance with small triangular face, prominent forehead, micrognathia, low-set ears, and clinodactyly.	false
+62a2dbf1b5f7ae5fa0f2be3fb7bd5587de073e2d	The main clinical features are mild intellectual deficiency, @PHENOTYPICFEATURE$, and a typical @DISEASE$ (SRS) appearance with small triangular face, prominent forehead, micrognathia, low-set ears, and clinodactyly.	false
+e24e11d7cccb471c816a93fc1000a88af032b23a	Hypomethylation related to a more severe @DISEASE$ phenotype, in which especially asymmetry and @PHENOTYPICFEATURE$ were significantly more common.	has_symptom
+1d72d13ab0b24222d4d9924d4c45fe688fba6e29	@DISEASE$ (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	has_symptom
+50a7d079d341b5cf32e33cac05b1b78a93f4d4d0	Silver-Russell syndrome (@DISEASE$) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	has_symptom
+cf46fb829d52998aecebac868ab32b5a604b2172	Silver-Russell syndrome (@DISEASE$) is a very rare genetic disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	false
+52203b287c70ef895cfe41e9af557b01cdf8bfd2	@DISEASE$ (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	false
+4addc18b6e1bb665323c22b98da71fc462f57a16	Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	false
+77789a78c9286aa7a7a67f753ff5935a462faba3	Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including @DISEASE$.	false
+78ff70c9ad3f2bdd1e206fae986c1d464460ab5c	Silver-Russell syndrome (SRS) is a very rare @DISEASE$ characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	false
+fac95e680f44a31c9caa03f1aaf729c2a347acd9	@DISEASE$ is a congenital disease characterized by severe growth retardation and variable dysmorphic features such as a small triangular face, @PHENOTYPICFEATURE$, asymmetry (usually of the limbs), syndactyly and clinodactyly.	has_symptom
+ce87799cce0b31f010cfb242608ce4d3953046d3	@DISEASE$ is a congenital disease characterized by severe growth retardation and variable dysmorphic features such as a small triangular face, micrognathia, asymmetry (usually of the limbs), @PHENOTYPICFEATURE$ and clinodactyly.	false
+d9a929f2a4c958ee8144bdee9f4b9387c7568594	Silver-Russell syndrome is a congenital disease characterized by severe growth retardation and variable dysmorphic features such as a small triangular face, @DISEASE$, asymmetry (usually of the limbs), @PHENOTYPICFEATURE$ and clinodactyly.	false
+c0ffd167c4e0f90e4f8960d8b6ae4caaf91bc595	Silver-Russell syndrome is a congenital disease characterized by severe @PHENOTYPICFEATURE$ and variable dysmorphic features such as a small triangular face, @DISEASE$, asymmetry (usually of the limbs), syndactyly and clinodactyly.	false
+88c7a02fef1abf014f1733da83f699f55b961ff3	@DISEASE$ is a congenital disease characterized by severe @PHENOTYPICFEATURE$ and variable dysmorphic features such as a small triangular face, micrognathia, asymmetry (usually of the limbs), syndactyly and clinodactyly.	false
+783e92bbbb26d40358d34ab9806396ee2b8d724a	@DISEASE$ (RSS) is a congenital disease characterized by short stature due to growth hormone deficiency, physical asymmetry, inverted triangular face, @PHENOTYPICFEATURE$, prominent forehead, and hypodontia.	has_symptom
+9f9a7061d548ff2d7990ffe77e43b95c721e55a3	Russell-Silver syndrome (RSS) is a congenital disease characterized by @PHENOTYPICFEATURE$ due to growth hormone deficiency, physical asymmetry, inverted triangular face, micrognathia, prominent forehead, and @DISEASE$.	false
+fabc894882e59c5bc4fe1e1304639b5aa96d9647	Russell-Silver syndrome (RSS) is a congenital disease characterized by @PHENOTYPICFEATURE$ due to growth hormone deficiency, physical asymmetry, inverted triangular face, @DISEASE$, prominent forehead, and hypodontia.	false
+06f3b07bf29950b41ab1dd71ce4836016ff92aaf	@DISEASE$ (RSS) is a congenital disease characterized by @PHENOTYPICFEATURE$ due to growth hormone deficiency, physical asymmetry, inverted triangular face, micrognathia, prominent forehead, and hypodontia.	false
+8bdd0a632219686df581fef2ccb823947f949053	The higher frequency of relative macrocephaly and high forehead/frontal bossing makes the face of patients with epimutations of the ICR1 on 11p15 more distinctive than the face of cases with @DISEASE$ of unexplained etiology or maternal UPD 7. Because of the distinct @PHENOTYPICFEATURE$ in the latter, their triangular facial gestalt is more pronounced than in the other groups.	has_symptom
+53f383e73a948366df101cf93820608af35da4cd	@DISEASE$ patients die before the age of 20 years due to cardiovascular problems and @PHENOTYPICFEATURE$.	has_symptom
+c16afc7a59f799b9a467247bd9b7c3415a487259	Most of the epileptic patients with @DISEASE$ showed definite anterior temporal spikes with time, and the outcome of SSS correlated with the clinical course of @PHENOTYPICFEATURE$.	has_symptom
+bd3f56878f894d93bec93475b8aeb1a962b40cdd	Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with @PHENOTYPICFEATURE$ and a characteristic physiognomy.	has_symptom
+1605032665a97eb18dc6e4fe1a264997129a2728	@DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with @PHENOTYPICFEATURE$ and a characteristic physiognomy.	has_symptom
+f3ab4b3d4690ad0bd3f839647d2e9663b778713f	@DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and @PHENOTYPICFEATURE$ associated with seizures and a characteristic physiognomy.	false
+68eecdaa2f312a8267e0e0f0a9bebb1ddc8f62d1	Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital @DISEASE$ with growth and @PHENOTYPICFEATURE$ associated with seizures and a characteristic physiognomy.	false
+c135dca46598d31169a7aa4b8aa9353d9ee7e8db	Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and @PHENOTYPICFEATURE$ associated with seizures and a characteristic physiognomy.	false
+1fa29ecf3042fc4b821bc09db4ab22ed36820dc3	Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and @PHENOTYPICFEATURE$ associated with @DISEASE$ and a characteristic physiognomy.	false
+f33da220d27d1b83d1e1ec89f25a7607a377cca2	We report on a 41/2-year-old girl with congenital hypoPTH, @PHENOTYPICFEATURE$, developmental delay, and a facial dysmorphism, compatible with @DISEASE$.	has_symptom
+ffedeb9667f9f3ae0ff336be71ac07fd3a251d33	We report on a 41/2-year-old girl with congenital hypoPTH, seizures, developmental delay, and a @PHENOTYPICFEATURE$, compatible with @DISEASE$.	false
+5ecc3544557e94cbc336a53e040b7006a90b34f8	We report on a 41/2-year-old girl with congenital hypoPTH, @DISEASE$, developmental delay, and a @PHENOTYPICFEATURE$, compatible with HRD syndrome.	false
+249bf1eea0a9037300375ec437083643ba60d6ec	We report on a 41/2-year-old girl with congenital @DISEASE$, seizures, developmental delay, and a @PHENOTYPICFEATURE$, compatible with HRD syndrome.	false
+6ff08ec271daabbe9f4aa64ecc206b2f30e61b5c	This study investigated the question of whether small sharp spikes (@DISEASE$) are associated with @PHENOTYPICFEATURE$ (sz) or represent a completely normal finding.	has_symptom
+da388c8c475c418111aebaae4d18ec74c09fc399	Clinical manifestations of superior sagittal sinus (@DISEASE$) thrombosis are nonspecific but characterized by headache, papilledema, @PHENOTYPICFEATURE$, focal deficits, progressive coma and death.	has_symptom
+af2a448b1cdfbb8034f56ee2e9ad78b77e2dcedf	Among @PHENOTYPICFEATURE$ types, @DISEASE$ were most closely related to complex partial seizures.	has_symptom
+61fd9278c89b23c80ed350686a2f10b3a53c0bbc	gene and one with @DISEASE$) developed symptomatic hypocalcaemia (two infants developed @PHENOTYPICFEATURE$) following respiratory or gastrointestinal illnesses.	has_symptom
+2e59f8f4877527cc61c4724459c34858d8f7084e	Secondary sensory @PHENOTYPICFEATURE$ (@DISEASE$) are very rare epileptic seizures.	has_symptom
+f53205fb985a4ada06c14ce5aba18bcd1903f0d1	Secondary sensory seizures (@DISEASE$) are very rare @PHENOTYPICFEATURE$.	has_symptom
+b835c8090c215fb3e2132133f0fe467dcb1dd99c	Thirty-six (58%) of 62 @DISEASE$ @PHENOTYPICFEATURE$ showed a complete stop, a return to interictal morphology being more common than a postictal pattern.	has_symptom
+8dac6740bc8334dd4e037da6a9c88843bb2af720	Hypoperfusion due to significant @DISEASE$ triggered @PHENOTYPICFEATURE$ in this patient who may have an underlying predisposition.	has_symptom
+c68a900b897376a2d91d420468bb504c96883ab8	@DISEASE$ and @PHENOTYPICFEATURE$--not always cause and effect.	has_symptom
+be7a35929f86a8f1e3f9b09fef00c8666ba45911	@DISEASE$ and @PHENOTYPICFEATURE$ in children.	has_symptom
+aa004a5dafa58c6ebe2e3e118cb4b728a5315aad	[@DISEASE$ as a cause of @PHENOTYPICFEATURE$ in children].	has_symptom
+7a58ddafcced8ef37f2a550d13e333725dbf128b	@DISEASE$ in children with @PHENOTYPICFEATURE$.	has_symptom
+041c8666e3dcf36277c7919c68fc140d7482fd9b	@DISEASE$ in children of @PHENOTYPICFEATURE$ without gastrointestinal symptoms.	has_symptom
+09ac5903bd4ba36a6b75cafd54bfa5070000422c	@DISEASE$ in patients with @PHENOTYPICFEATURE$: A tertiary care centre experience.	has_symptom
+f48b524027d10afba7bbc872c5d2bb138e069be0	[@DISEASE$ and @PHENOTYPICFEATURE$ in children].	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+2044729f8f4648610c9e51e7b01a1ff3caee92f0	Familial @PHENOTYPICFEATURE$ and @DISEASE$: a family case report.	has_symptom
+4b47a93263f3ced5cee7a0bd360dd18fe3a2f840	The pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$ (CD) is unknown.	has_symptom
+dc9f0a8ef4fc1c06d334d4ad9c370fa6f752a781	@DISEASE$ (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with @PHENOTYPICFEATURE$ and ophthalmoplegia.	has_symptom
+799d4b07e1d2759bbb9fc210134eefd686a3b8dc	@DISEASE$ (SCA7) is caused by an abnormal CAG repeat expansion and includes @PHENOTYPICFEATURE$ associated with visual loss and ophthalmoplegia.	false
+14931aa29dda460962fd96d9c20107f28e462e0e	Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes @PHENOTYPICFEATURE$ associated with @DISEASE$ and ophthalmoplegia.	false
+0adda32c31f4d2de00f275aa00f7b3ea830557ec	Two patients with @DISEASE$ presenting with profound binocular @PHENOTYPICFEATURE$ yet minimal ophthalmoscopic findings.	has_symptom
+6f4d1a6c28163f02a990222fb109f4fe908dcfd9	First we wanted to test if patients with @DISEASE$ (SCA7), a progressive neurodegenerative disorder characterized by cerebellar ataxia and @PHENOTYPICFEATURE$, also have olfactory deficits.	has_symptom
+db28279ccbf4c15cc83f4280d12e317e47e1466a	First we wanted to test if patients with @DISEASE$ (SCA7), a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and visual loss, also have olfactory deficits.	false
+b60b730c7466541490271c4c57fa4ffe7739d727	First we wanted to test if patients with spinocerebellar ataxia type 7 (SCA7), a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$, also have olfactory deficits.	false
+dd2385528895c92f0d45171265de47a71172cb35	@DISEASE$ (SCA7) is a progressive neurodegenerative disorder characterized by cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+61ba2ed128c6b343d55167596f26ec9f1ab15fa3	Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b6a41d8332a80452a1c2ec861663d3c2e3a5b9e4	@DISEASE$ (SCA7) is a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and visual loss.	false
+1192e96ef79f32661661a8e2905f6d355efaa84e	@DISEASE$43 syndrome: a consistent phenotype with @PHENOTYPICFEATURE$, characteristic face, developmental delay and cardiac anomalies: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	has_symptom
+dc1ab09eea645cdd1ccb7de2f64b1bc216447b53	@DISEASE$43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, @PHENOTYPICFEATURE$, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	has_symptom
+0522dd4d4639d828dc1c669737c2d16dcfb2fe4a	Trisomy 1q43 syndrome: a consistent phenotype with @DISEASE$, characteristic face, developmental delay and @PHENOTYPICFEATURE$: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	false
+d130b7f1809222aa70147c5688b6c2fb92fc0d9c	Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, @DISEASE$, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	false
+35acd897759703b5049e88955dfbddbd47422cab	Trisomy 1q43 @DISEASE$: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	false
+3d4bbcf09c828a2ece00b078cd4cc5a47d647fda	Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-@DISEASE$ and small size for gestational age.	false
+8ed6aa7b1db64f0a0eec3da7e64c03d2dc7b8277	@DISEASE$43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	false
+b862f871a7d41963a8331b2d6d947355a11ba457	@DISEASE$43 syndrome: a consistent phenotype with @PHENOTYPICFEATURE$, characteristic face, developmental delay and cardiac anomalies.	has_symptom
+e12e807b96cd8be1e4a110ad0a6fae17e5516c40	@DISEASE$43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$.	false
+4925618ce7e588af27cc8b4bb87316778caac3fd	Trisomy 1q43 @DISEASE$: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$.	false
+292f928e6dff21b112476fd4928823e0ae87cfa7	Trisomy 1q43 syndrome: a consistent phenotype with @DISEASE$, characteristic face, developmental delay and @PHENOTYPICFEATURE$.	false
+7ef130e8dbb0f558387e186d4a49aa813c58bf11	Five other potentially affected family members had @PHENOTYPICFEATURE$ or facial palsy of uncertain aetiology in the absence of other stigmata of @DISEASE$.	has_symptom
+e117793f59c998fa5ef5c71d7f15a5982959063f	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (@DISEASE$), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	has_symptom
+caa92ea65aaa8238e9a10e7eb6b6e90bddf6bca7	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial @DISEASE$ (CCAL2), craniometaphyseal dysplasia (CMD), @PHENOTYPICFEATURE$, deafness and ankylosis syndrome (MRDA).	false
+7407f4053bf2726ff4d2fe9ee2605cf9baeb7bb0	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), @PHENOTYPICFEATURE$, @DISEASE$ and ankylosis syndrome (MRDA).	false
+848a7c8d6e4d79461b31de293d6e10a935906883	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), @DISEASE$ (CMD), @PHENOTYPICFEATURE$, deafness and ankylosis syndrome (MRDA).	false
+6b372837c834ee66dba6b998c4be739883fddded	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), @PHENOTYPICFEATURE$, deafness and @DISEASE$ syndrome (MRDA).	false
+ca8c80ec02a285ad6b407a881245c4c13bd3d3e1	Dominant or recessive mutations in the progressive @DISEASE$ gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), @PHENOTYPICFEATURE$, deafness and ankylosis syndrome (MRDA).	false
+7684f68998b7c8c5e41c1f964aedc32c24af6319	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (@DISEASE$), @PHENOTYPICFEATURE$, deafness and ankylosis syndrome (MRDA).	false
+a531be5e4abd87764939bfaee8587215564ece0e	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), @PHENOTYPICFEATURE$, deafness and ankylosis @DISEASE$ (MRDA).	false
+d69e0080c01b32019e28e88f87fa4af0648a533e	To employ magnetic resonance imaging (MRI) to measure the volume of the inner ear endolymphatic space (ELS) in patients with acute low-tone sensorineural hearing loss (ALHL), sudden @PHENOTYPICFEATURE$ (SD), cochlear Meniere's disease (@DISEASE$), and unilateral MD (uMD) compared with control subjects (CS) with chronic rhinosinusitis.	has_symptom
+cf99b14de281d662632e362a58025437731f5e86	To employ magnetic resonance imaging (MRI) to measure the volume of the inner ear endolymphatic space (ELS) in patients with acute low-tone @PHENOTYPICFEATURE$ (ALHL), sudden deafness (SD), cochlear Meniere's disease (@DISEASE$), and unilateral MD (uMD) compared with control subjects (CS) with chronic rhinosinusitis.	false
+f9f9ef85f3c4fc0c49be010f90f5476b42ed57b8	To employ magnetic resonance imaging (MRI) to measure the volume of the inner ear endolymphatic space (ELS) in patients with acute low-tone @PHENOTYPICFEATURE$ (ALHL), sudden @DISEASE$ (SD), cochlear Meniere's disease (cMD), and unilateral MD (uMD) compared with control subjects (CS) with chronic rhinosinusitis.	false
+99ae4a36956f102dee53029abd05ee0ec75d7d9f	@DISEASE$ usually presents with polyuria, polydipsia, @PHENOTYPICFEATURE$, vomiting, dehydration and failure to thrive.	has_symptom
+072defbef3079d67b0004af471dac93647b046a2	@DISEASE$ usually presents with polyuria, polydipsia, fever, vomiting, dehydration and @PHENOTYPICFEATURE$.	false
+91d1accf4e2b3ad628e62901d2d28e8506b90461	Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, @DISEASE$, @PHENOTYPICFEATURE$, dehydration and failure to thrive.	false
+7053e85fb0ee137382a122381df5feae4753175b	Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, @DISEASE$, vomiting, dehydration and @PHENOTYPICFEATURE$.	false
+69da1b49ea5d625ea9e561407353307607c04342	@DISEASE$ usually presents with polyuria, polydipsia, fever, @PHENOTYPICFEATURE$, dehydration and failure to thrive.	false
+478a298ec24d8aa1695a4399b7b6e58c1c36e58d	Some cases of syndromal @PHENOTYPICFEATURE$ may be associated with normal intelligence including some "primordial dwarfs," children with Dubowitz syndrome, FAS, mild SC-@DISEASE$, and an occasional Brachmann-de Lange individual.	has_symptom
+1dde8bb53e12a5e8356352e1d0764e55e0fc2650	The rare, autosomal recessive @DISEASE$ (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, @PHENOTYPICFEATURE$, and mental deficiency.	has_symptom
+d813e19ad6a3f1ee019f128d2f92a8de942bff21	The rare, autosomal recessive @DISEASE$ (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and @PHENOTYPICFEATURE$.	false
+8d4542ad5599103368afa845d4541e3015351e8c	The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c156f4952071e9ef2f0a970d8fe38789b3b0846b	@DISEASE$/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity.	has_symptom
+e7552027399072ef2f5d43a82dd508492b86665f	@DISEASE$/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, @PHENOTYPICFEATURE$, and tetraphocomelia in varying degrees of severity.	false
+5022d4c3fd28dcec72ea8a2b304758260bfb921a	Roberts syndrome/SC phocomelia is a rare, autosomal recessive @DISEASE$ characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, @PHENOTYPICFEATURE$, and tetraphocomelia in varying degrees of severity.	false
+7cd06b072f5c08f6232ac0f6e98e2a3daa22b383	Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, @DISEASE$, craniofacial anomalies, @PHENOTYPICFEATURE$, and tetraphocomelia in varying degrees of severity.	false
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+d48a8407d88ac3d9b53788ce99abc284c4ad85d6	: The predominant symptoms of @DISEASE$ (IBD) are diarrhoea, @PHENOTYPICFEATURE$, gastrointestinal bleeding, weight loss, malnutrition and fatigue.	has_symptom
+17fc2d36f7bb5246a0f428409c086f4a85e225f9	: The predominant symptoms of inflammatory bowel disease (@DISEASE$) are diarrhoea, @PHENOTYPICFEATURE$, gastrointestinal bleeding, weight loss, malnutrition and fatigue.	has_symptom
+3698beadf268aa536ad9eaa89e1f6c5789c12256	: The predominant symptoms of inflammatory bowel disease (@DISEASE$) are diarrhoea, abdominal pain, gastrointestinal bleeding, @PHENOTYPICFEATURE$, malnutrition and fatigue.	false
+b05ff12f88e956c570c3266a3e1f03980f44081b	: The predominant symptoms of inflammatory bowel disease (IBD) are @DISEASE$, abdominal pain, gastrointestinal bleeding, @PHENOTYPICFEATURE$, malnutrition and fatigue.	false
+192c12756db645fb0efb002a2aed9b3160fca4f7	: The predominant symptoms of inflammatory bowel disease (IBD) are diarrhoea, @DISEASE$, gastrointestinal bleeding, @PHENOTYPICFEATURE$, malnutrition and fatigue.	false
+a6130f696f4b34b10011d9f87cecccbf606764a2	: The predominant symptoms of @DISEASE$ (IBD) are diarrhoea, abdominal pain, gastrointestinal bleeding, @PHENOTYPICFEATURE$, malnutrition and fatigue.	false
+2b86096da237f5872c5bd558ee8e0f02ec48a863	@DISEASE$ is associated with chronic @PHENOTYPICFEATURE$.	has_symptom
+20584549b5c0f90001f6c9c6d9f041e0db9c3cb8	Lower gastrointestinal endoscopy (LGIE)/colonoscopy is frequently performed for rectal bleeding, recurrent @PHENOTYPICFEATURE$, and the diagnosis of @DISEASE$ (IBD).	has_symptom
+e74ea393aa86855c7be526a8787331e720d3d2ba	Lower gastrointestinal endoscopy (LGIE)/colonoscopy is frequently performed for rectal bleeding, recurrent @PHENOTYPICFEATURE$, and the diagnosis of inflammatory bowel disease (@DISEASE$).	has_symptom
+c098efdda417cc5d17ba35959063d6624bbc790c	However, not all @DISEASE$ patients have abdominal pain, and some patients report @PHENOTYPICFEATURE$ during remission, suggesting contributions of other pathological factors to abdominal pain in IBD.	has_symptom
+49fbd0f164a352cd3dd52f5f3667f7324dd86df1	However, not all IBD patients have @PHENOTYPICFEATURE$, and some patients report abdominal pain during remission, suggesting contributions of other pathological factors to abdominal pain in @DISEASE$.	has_symptom
+dca355761659f08a1801ac8cc08ec14655392f24	However, not all @DISEASE$ patients have @PHENOTYPICFEATURE$, and some patients report abdominal pain during remission, suggesting contributions of other pathological factors to abdominal pain in IBD.	has_symptom
+c6a8eccbb2a60f56fbd54a5b366eadfb460c1111	However, not all IBD patients have abdominal pain, and some patients report @PHENOTYPICFEATURE$ during remission, suggesting contributions of other pathological factors to abdominal pain in @DISEASE$.	has_symptom
+787ea744c3f842e78a070ead0fe8e79a7661c19b	Symptoms of inflammatory bowel disease (@DISEASE$) include bloody diarrhea, fatigue, @PHENOTYPICFEATURE$, and weight loss.	has_symptom
+a0728cd1099cc11999accc0c5526a63c57fb5a57	Symptoms of @DISEASE$ (IBD) include bloody diarrhea, fatigue, @PHENOTYPICFEATURE$, and weight loss.	has_symptom
+02d70fbf9bd948e55a2d4b0a31a740f93d3ad9e7	In addition to the @PHENOTYPICFEATURE$, he developed diarrhea and colonic biopsy findings were suggestive of @DISEASE$ (IBD).	has_symptom
+bcf868032606752a3bf648f810a1720b6b68c141	In addition to the @PHENOTYPICFEATURE$, he developed diarrhea and colonic biopsy findings were suggestive of inflammatory bowel disease (@DISEASE$).	has_symptom
+98c839c75e63f28230095023da00510ffbf32b85	Inflammatory bowel disease (@DISEASE$) is characterized by cramping, @PHENOTYPICFEATURE$, bloating, constipation, and diarrhea.	has_symptom
+e655ba69d4fb15914d691c35d85154d8c9dc4b1a	@DISEASE$ (IBD) is characterized by cramping, @PHENOTYPICFEATURE$, bloating, constipation, and diarrhea.	has_symptom
+89fe8caebf7200e600b6f96faa732ae99f55947d	HAEC and @DISEASE$ (IBD) have similar clinical presentation including diarrhea, hematochezia, and @PHENOTYPICFEATURE$.	has_symptom
+8524d1594944f5ee5c1a2813e1ca4dcd4f98f12f	HAEC and inflammatory bowel disease (@DISEASE$) have similar clinical presentation including diarrhea, hematochezia, and @PHENOTYPICFEATURE$.	has_symptom
+1dbfd717c95eaebcd4e4979270c56b795403f489	@DISEASE$ (IBD) is generally associated with a set of debilitating symptoms including @PHENOTYPICFEATURE$, tenesmus, diarrhea and bloody stool.	has_symptom
+26269215e4272d65ef6ec4654b0135c7c7ae45e6	Inflammatory bowel disease (@DISEASE$) is generally associated with a set of debilitating symptoms including @PHENOTYPICFEATURE$, tenesmus, diarrhea and bloody stool.	has_symptom
+11df18aaf0699f3e387fb99f799e5b2151629792	Anhedonia in irritable bowel syndrome and in @DISEASE$ and its relationship with @PHENOTYPICFEATURE$.	has_symptom
+7043c4c86f21cbd85fb3cb8902917c15d9872717	@DISEASE$, dwarfism, @PHENOTYPICFEATURE$, and hair shaft abnormalities.	has_symptom
+f26fe864f4fa2a958ed910c07e2fb5b93ab7c8aa	All cases of @DISEASE$ were associated with @PHENOTYPICFEATURE$ with some degree of slow physical development.	has_symptom
+84624aff98ef7097e30b691463b5143a361eb0a4	[Sj?gren-Larsson syndrome: @DISEASE$, @PHENOTYPICFEATURE$ and spasticity (author's transl)].	has_symptom
+8bd368447fe026c1b5b2ac53d345667ae5611078	[Sj?gren-Larsson syndrome: @DISEASE$, mental retardation and @PHENOTYPICFEATURE$ (author's transl)].	false
+e0947ee377ca53e6cc635803bc37f6b9faab7738	[Sj?gren-Larsson syndrome: lamellar ichthyosis, @DISEASE$ and @PHENOTYPICFEATURE$ (author's transl)].	false
+6389c868ec327b3241b655fed59a9b58424b0282	[Sj?gren-Larsson @DISEASE$: lamellar ichthyosis, mental retardation and @PHENOTYPICFEATURE$ (author's transl)].	false
+fbed92c624d3ee3b2b5f8dfcfa1713f7cdebc82f	We present the case of a young woman with the following features: @DISEASE$, dwarfism, @PHENOTYPICFEATURE$, nail and dental abnormalities, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	has_symptom
+08df4c420f544a88cc5bcfdb23f8ee048f3311de	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and @PHENOTYPICFEATURE$, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+6ac6ce4aee8cd5bfd43aa6b3741ce9c664acbf6d	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, @DISEASE$, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+1198801e83206097876ecb5daaeb5e21345f3f4f	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, mental retardation, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate @DISEASE$, and hair shaft abnormalities.	false
+32fc4887369efbe9e7d4a7257a5e5e22eb45e37b	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, @DISEASE$, nail and @PHENOTYPICFEATURE$, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+ceed548df23ac85ff3d17e75ef130bd796c3ebd3	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+24ce204f6272bfba32c62c58360f62f882b3c6d5	We present the case of a young woman with the following features: lamellar ichthyosis, dwarfism, mental retardation, nail and @PHENOTYPICFEATURE$, unusual facies, poor sexual maturation, punctate @DISEASE$, and hair shaft abnormalities.	false
+f7b9fbc310141282515e9bc89125c23f0e043ff3	This is the report of a case of a 63-year-old woman, with a history of recurrent deep vein thrombosis, who was admitted with @PHENOTYPICFEATURE$ and diagnosed with bilateral adrenal hemorrhage, resulting in @DISEASE$.	has_symptom
+d0f544733712e1d967632295b55386c33a5262d9	@DISEASE$ is a medical emergency with acute symptoms: nausea, vomiting, @PHENOTYPICFEATURE$, fever, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	has_symptom
+01eb2f25ac25ea69134ad2e90889ffb3fe1b1971	Adrenal crisis is a medical emergency with acute symptoms: nausea, vomiting, abdominal pain, @PHENOTYPICFEATURE$, @DISEASE$, seizures, hypovolemic shock, and cardiovascular failure.	false
+7075a5e6470b1e3be71805bf47c08712091beb57	Adrenal crisis is a medical emergency with acute symptoms: nausea, vomiting, @DISEASE$, @PHENOTYPICFEATURE$, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	false
+6933a733602100d317bef890f2e99dce80ba579b	Adrenal crisis is a medical emergency with acute symptoms: nausea, @PHENOTYPICFEATURE$, abdominal pain, fever, @DISEASE$, seizures, hypovolemic shock, and cardiovascular failure.	false
+bbb01b52a6b92f8a55a4c4472d78ee574c2da6ee	@DISEASE$ is a medical emergency with acute symptoms: nausea, vomiting, abdominal pain, @PHENOTYPICFEATURE$, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	false
+173dcac119944c9b9599ff755c32691507f35198	@DISEASE$ is a medical emergency with acute symptoms: nausea, @PHENOTYPICFEATURE$, abdominal pain, fever, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	false
+b8d6e12f63c2899c33bb6b5b54026d2528b48134	Adrenal crisis is a medical emergency with acute symptoms: nausea, @PHENOTYPICFEATURE$, @DISEASE$, fever, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	false
+0afc88611d7cfab626e4ba3428c93111ff5dd640	We describe the case of a 55 year old patient with @DISEASE$ who suffered from @PHENOTYPICFEATURE$, recurrent syncope and cardiac arrest.	has_symptom
+49b559f36be4ac953275cf58f31370e0536038fe	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, @DISEASE$, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	has_symptom
+55c7795417443858486be7d3142d4d1349a27676	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including microcephaly, @PHENOTYPICFEATURE$, intracranial calcification, and epilepsy.	has_symptom
+8db9a614329a70aeae120f3c8c60220e10c4b4e4	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+37e97175ec659e8bb8a99582812e8175e54e40e0	Patients with SSS display a variety of dysmorphic features and neurological manifestations, including @PHENOTYPICFEATURE$, @DISEASE$, intracranial calcification, and epilepsy.	false
+27a491a28dd1eacedc92cd8fdd041ee6302cad15	Patients with SSS display a variety of dysmorphic features and neurological manifestations, including microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, and epilepsy.	false
+8d044104674a018e3610a4acae7a16b66de3e80f	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including @PHENOTYPICFEATURE$, mental retardation, intracranial calcification, and epilepsy.	false
+f3ab4b3d4690ad0bd3f839647d2e9663b778713f	@DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and @PHENOTYPICFEATURE$ associated with seizures and a characteristic physiognomy.	has_symptom
+c135dca46598d31169a7aa4b8aa9353d9ee7e8db	Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and @PHENOTYPICFEATURE$ associated with seizures and a characteristic physiognomy.	has_symptom
+9d6687c46bff70bf5a4e0fb227673105f904039b	Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital @DISEASE$ with growth and mental retardation associated with @PHENOTYPICFEATURE$ and a characteristic physiognomy.	false
+6bbfd32ad3f204560dcaed992adc510956a7442d	Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and @DISEASE$ associated with @PHENOTYPICFEATURE$ and a characteristic physiognomy.	false
+1605032665a97eb18dc6e4fe1a264997129a2728	@DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with @PHENOTYPICFEATURE$ and a characteristic physiognomy.	false
+bd3f56878f894d93bec93475b8aeb1a962b40cdd	Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with @PHENOTYPICFEATURE$ and a characteristic physiognomy.	false
+3ee0795062a04b8bdcfe0e3704c43d7944e09682	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, @PHENOTYPICFEATURE$, susceptibility to chest infection, and dentofacial anomalies.	has_symptom
+e9acfa7c34c5933dd2ca99a63436121aab216ad8	@DISEASE$ (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, @PHENOTYPICFEATURE$, susceptibility to chest infection, and dentofacial anomalies.	has_symptom
+cfe04ce850da1a4085e44d0f1ec54d44aee3155e	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	has_symptom
+3958db3eaa415e0d5ee1228d31eb0ea16a563bf4	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+218c6b91595957ae0c171685f804cac3a0377020	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+328af8a5a709acd279a227b2dae1bf59b34497a4	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+10a46e930dd2fa817cb0295d3a33663c10f4935f	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+4960598a6d08c1170745f6a883234d7e86517e2d	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @DISEASE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+92a5bd1b44741416c6bddcc6a00b93f2673090f1	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+31d411e54c86bb3956afc02c3aa8baec45891c9b	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @DISEASE$, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+2456a92ae49661e3440d04a1bf4ac41fb9880974	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+84c959e82fedc7de3c2e50e10d7b80985c5c92ce	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @DISEASE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+c5ff3c3fa87f64245c7d841eec5bf5dd62d06c03	The @DISEASE$ (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and @PHENOTYPICFEATURE$, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43.	has_symptom
+76bbdfb1f99f26c3734ce546b0de665cf4e82bad	The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital @DISEASE$, growth and mental retardation, @PHENOTYPICFEATURE$, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43.	false
+fb50835ff5f5051103bedc3f424bdca85efa7853	The @DISEASE$ (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, @PHENOTYPICFEATURE$, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43.	false
+67e3b6f1ebb3d6250afe061d3968003938798ff3	The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and @DISEASE$, @PHENOTYPICFEATURE$, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43.	false
+859176e5fd603ea9d914d4d61151d7463d468716	@DISEASE$ (SSS), also known as hypoparathyroidism-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by @PHENOTYPICFEATURE$ and dysmorphic features.	has_symptom
+4efcea7188845c9fc2c4293f48b4fd131a872f89	@DISEASE$ (SSS), also known as hypoparathyroidism-@PHENOTYPICFEATURE$-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	has_symptom
+f96287272696d54d321d1a5c7e1887d20d212264	@DISEASE$ (SSS), also known as @PHENOTYPICFEATURE$-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	false
+f680ab41b1921ec37168d39f94be0d442ba39262	Sanjad-Sakati syndrome (SSS), also known as @PHENOTYPICFEATURE$-@DISEASE$-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	false
+0bbd1ea588c06b39411224258e6f7fcf3ef98b7a	Sanjad-Sakati syndrome (SSS), also known as @PHENOTYPICFEATURE$-mental retardation-@DISEASE$, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	false
+4ae70a7b7b841d40474aa3d67d8f65e8d07ae1dd	Sanjad-Sakati syndrome (SSS), also known as @PHENOTYPICFEATURE$-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by @DISEASE$ and dysmorphic features.	false
+d34a1685e05ac6a1b8c0a2ad76708f71060ecf1a	The purpose of this report is to describe the ophthalmic manifestations of @DISEASE$ (SSS; hypoparathyroidism-@PHENOTYPICFEATURE$-dysmorphism syndrome, HRD) (OMIM 241410).	has_symptom
+7dcf198d0ae9bb6fa7a003fbeb60b93bff1210b7	The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; @PHENOTYPICFEATURE$-mental retardation-@DISEASE$, HRD) (OMIM 241410).	false
+b77bfbe89d5e93bd4b1479615222cb2935544284	The purpose of this report is to describe the ophthalmic manifestations of @DISEASE$ (SSS; @PHENOTYPICFEATURE$-mental retardation-dysmorphism syndrome, HRD) (OMIM 241410).	false
+4b398dc6927e9f37968f142c1a776dd94b0e5d92	The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; @PHENOTYPICFEATURE$-@DISEASE$-dysmorphism syndrome, HRD) (OMIM 241410).	false
+d1ac98a49c4d7cf1b3d309ac54755a2af551da3d	Sanjad-Sakati syndrome (@DISEASE$) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and @PHENOTYPICFEATURE$.	has_symptom
+a8bf1d2ea15379005936ffdeb4f543c49623fd68	@DISEASE$ (SSS) is an autosomal recessive disorder characterized by congenital hypoparathyroidism, growth and @PHENOTYPICFEATURE$.	has_symptom
+e1f08d6a08d45d3882c26cb9bba5d42c0b583537	The syndrome of congenital hypoparathyroidism, @PHENOTYPICFEATURE$, facial dysmorphism and extreme growth failure (HRD or @DISEASE$; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.	has_symptom
+19d2a3cf42389db6b4a69abeafd013c07e74e3b3	The syndrome of congenital hypoparathyroidism, mental retardation, @PHENOTYPICFEATURE$ and extreme growth failure (HRD or @DISEASE$; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.	false
+30ab3e1e09f46126e4efb23f28f9d0a68708c6f1	The syndrome of congenital @DISEASE$, mental retardation, @PHENOTYPICFEATURE$ and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.	false
+057b4b28f30f45fa319845089289f0a898624c66	The syndrome of congenital hypoparathyroidism, @DISEASE$, @PHENOTYPICFEATURE$ and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.	false
+13916826d182aaff7b74d57bf0f3327d8ebb4f7c	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	has_symptom
+0f2b9931bfe72ba79268566a6e32c6b0d64d7d93	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	has_symptom
+b552dcb41118820734903abb04769f5dd450322f	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+68925095360a990b80d301e2827665bc9f744c74	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, @DISEASE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+f3b216f2531dce0fef416eb7c876f9c00f6a2dda	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+bb0812d065637f0878efe3d6becec19bd112d424	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+f7e01bcc1bd0b008799287893a9d573edfc35575	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+6293161b2d8b26f1d812a54c9d0f6ba58b044c16	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+a80f766d075e0e32be86285617f8cf71b10fae0b	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+d69cda78802e03c9a69f0477f0d84fe1138be47d	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, @DISEASE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+552db63d1479bc2784de5dd8e59285191105a6e5	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+c4b3e9de7186ab495f4186b76780b7fdc38dbb2d	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+96044771245c1d48e3b1ea78ff0b557c327d5cbe	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+03c83add64ab3fa90c796481b66aa7ec311331a6	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+fd250bdf4ee7094cf1323b66bc405b25ffcbafd5	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+e947117836258a3d1ea000f02930d274073be228	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @DISEASE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+ba52f9cca7a587ae1bec15d034a65576f41558a0	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+0421ccb7038537f50fad56f7400e86e3070f4158	Surgical consideration in @DISEASE$: a case of @PHENOTYPICFEATURE$ and a case of epidural hematoma.	has_symptom
+41b677d5380507c4db30cd11d4bfc7afeef4633a	@DISEASE$ complicated by @PHENOTYPICFEATURE$ and an endogenous anticoagulant.	has_symptom
+83cfe11a99f8e3dbd71fdad176ce03fb18411bc2	This case illustrates the features of Hunter syndrome (@DISEASE$) complicated by @PHENOTYPICFEATURE$ and a prolonged activated partial thromboplastin time (APTT).	has_symptom
+6b0bf22675f3f4f5e3d3587504acc0e890f68e8a	This case illustrates the features of @DISEASE$ (mucopolysaccharidosis type 2) complicated by @PHENOTYPICFEATURE$ and a prolonged activated partial thromboplastin time (APTT).	has_symptom
+9523e91f00019f75f6e8226f12194f7e48aa447e	@DISEASE$ presenting as macrocephaly and @PHENOTYPICFEATURE$.	has_symptom
+5c198d3c53efd0e7fe8e1c3809a54c8f8956841c	Hunter syndrome presenting as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c8277815a03cfe214b814a04b34cfc3569ed87a3	@DISEASE$ presenting as @PHENOTYPICFEATURE$ and hydrocephalus.	false
+83a6c5d8767b28493981ed4ea731ef5d74795522	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	has_symptom
+3d8bffa41f06756616402e8dc13698208f135019	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, @DISEASE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+274c8e5d02d56ac411de92a1ed96a97c418591fe	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+71a892e7e0839541ef25a6ff93f9c181dbc347a4	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+452a50c878a499433d32e1cdcf1413cc1f759fff	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, @DISEASE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+99eca64e07ec7790c0023cd1a788d72b3acf1908	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+e30e58d9a0c3421b2c615f3f2712bbb5502239ba	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, @PHENOTYPICFEATURE$, and genitourinary anomalies.	false
+4b25c4ee2035f7177f7ce8ebde24804f2c0f4973	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+6caf3e83aa30a5742a27cc8985ee4010086ed871	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+47c7da2f159164fe250eca8fd9ec6031580b5928	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, and genitourinary anomalies.	false
+7d024a002db2061f6cd42f7b4197cec34ef754dc	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @PHENOTYPICFEATURE$, and genitourinary anomalies.	false
+b167c3fbb6196c26bb3fca1096d2f190a45c2a42	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+306fd5ae0a07e483fdea75c8f730daeda52989b1	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+37bddd9e8c8fe018758fa68bd1c7c1bc2aaf1e1e	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @PHENOTYPICFEATURE$, and genitourinary anomalies.	false
+51ae96958257e1c13bccc8e0344e6e1dd0bc0e19	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+fa4266b21af336b023e15806570949445a7dba50	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+7cfb70c704cbcf12532195141f8229e5fcfdcf66	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+8e9b1a1c21ffb1ce0ef01b6bf988bf9e5de90cb2	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @DISEASE$, congenital heart disease, Hirschsprung disease, @PHENOTYPICFEATURE$, and genitourinary anomalies.	false
+4f20cd28f6380805d10b9f59958732f2c2078739	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+4613fa6158ec1750245cc43993497b221f7a8345	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+aea949b28e45ac5acdda3b264f94b97f5d2559a7	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+7a325d40904b8073858e512fadf6d229a337a709	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @PHENOTYPICFEATURE$, and genitourinary anomalies.	false
+77a112f665530534990a1b9b4e8075cfdb5a5875	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+94abb3c1c5535ea41bea37069ce488d92cdaac4a	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+74863c734f071e97147ad847f03a1dcf69f19b67	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+e0988b2defa72dbd003edf90329e1b234fe3c014	@DISEASE$ (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, microcephaly, and distinct facial features.	has_symptom
+735cc11280bc4e1fa0d8c7b73f960bb29c64b76e	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, and distinct facial features.	false
+9ed71a5bee6e538d11dbd3dbc2030096d102dc98	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple @DISEASE$ disorder characterized by intellectual disability, seizures, @PHENOTYPICFEATURE$, and distinct facial features.	false
+7ca82166df02e29b44e519be47373f59718d5c84	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple @DISEASE$ disorder characterized by @PHENOTYPICFEATURE$, seizures, microcephaly, and distinct facial features.	false
+e4dd4bc29ef0b676bfff4c25dbdfbf95212c7eef	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, and distinct facial features.	false
+595c9f3ee727c2017fa6e436330b65def98a35c6	@DISEASE$ (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by @PHENOTYPICFEATURE$, seizures, microcephaly, and distinct facial features.	false
+f1f7144827a186f9f72548b3e1aeb3fb1db17ebb	@DISEASE$ (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, @PHENOTYPICFEATURE$, and distinct facial features.	false
+7a23811070b46b7ce0633054234532b4d67ca515	Heterozygous truncating mutations or deletions in ZEB2 are known to cause @DISEASE$ (MWS), which is characterized by @PHENOTYPICFEATURE$ with onset in the second year of life, distinctive dysmorphic facial features and malformations that were absent in this patient.	has_symptom
+b0252ad48b5f2e24dc7dff334d73f26bb5feae16	@DISEASE$ (MWS) is characterized by severe mental retardation with @PHENOTYPICFEATURE$, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	has_symptom
+629a1c56274eede5c8a9cf25203363c2e072ce14	Mowat-Wilson syndrome (MWS) is characterized by @PHENOTYPICFEATURE$ with @DISEASE$, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+8fb37169ea6b39a169908880f761848577034c89	@DISEASE$ (MWS) is characterized by severe mental retardation with seizures, specific @PHENOTYPICFEATURE$, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+bcae4aecd937eaf6a594361c9fffce9ff18a2986	Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with @DISEASE$, specific @PHENOTYPICFEATURE$, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+949a4370f9d499d2ef490259879e1fd21e6db1ef	Mowat-Wilson syndrome (MWS) is characterized by @PHENOTYPICFEATURE$ with seizures, specific facial dysmorphism, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+e7a5190d40a2875173dc2fbeb454a5554ed734ad	Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific @PHENOTYPICFEATURE$, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+cfb43f03636f27b88119ec3fe3bc84b3ecdcfc4a	@DISEASE$ (MWS) is characterized by @PHENOTYPICFEATURE$ with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+470cf5a21be9a75a2e1101f11f06d94d25fe5ce6	@DISEASE$ presenting with fever-associated @PHENOTYPICFEATURE$.	has_symptom
+f89a6cb60c2d6b287f0f72fa91dfcbe9c3560124	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and @DISEASE$.	has_symptom
+574229d9eb836572478d0bc1b7c465d3d062e2a0	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and @DISEASE$.	false
+3b047a373ce2a80091fecdc0dffbdaac229eb058	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, @DISEASE$, hypotonia, cadiomyopathy, developmental delay, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and malonic aciduria.	false
+c858ea43c36d8facd15661728d0c4efe2f2d61fa	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, metabolic acidosis, and malonic aciduria.	false
+1c269e3c6eb1cfd7e3a65f8c64731407bbf73190	MCD) deficiency, or @DISEASE$, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, @PHENOTYPICFEATURE$, cardiomyopathy and acidosis.	has_symptom
+c6706ca4aabeda2b2f011f8f66a06234f6d7bcf9	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and @DISEASE$.	has_symptom
+15eb522a80930efb95a9d7cf4d0c68cbad58147e	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and malonic aciduria.	false
+b242b4049c437e45c7ec3cf55efb285c3f4b2b30	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and @DISEASE$.	false
+d60b8ac5a8120a3a56cc1cc79895b8cf080c25c8	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, @DISEASE$, hypotonia, cardiomyopathy, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and malonic aciduria.	false
+e31d047e5ff7683a1fd22c2e92a7d28521b74452	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$, metabolic acidosis, and malonic aciduria.	false
+803b21fe4788d0cb0dd6bc80872554061dda24f6	@DISEASE$ is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, @PHENOTYPICFEATURE$, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	has_symptom
+670bd124ee052c5308f70fc2c94ce72827bab1b7	@DISEASE$ is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, @PHENOTYPICFEATURE$ and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+cfea1bf3c51706970430401a16f7a94dad1e0d59	Refsum disease is an @DISEASE$ characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, @PHENOTYPICFEATURE$ and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+04036a93665df7141b45249ca10710ec88bec393	Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: @DISEASE$, peripheral neuropathy, @PHENOTYPICFEATURE$ and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+f90247ff4a7ed71588e38bced81dfcc923adad90	Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$ and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+fe69c398147e02f5b1a0cb07f664cbb0a81d69bc	The lupus anticoagulant was found in the plasma of 31 of 60 patients with systemic lupus erythematosus and other connective tissue disorders (mixed connective tissue disease, systemic @PHENOTYPICFEATURE$, polyarteritis nodosa, primary @DISEASE$, discoid lupus, Behcet's syndrome, and systemic sclerosis).	has_symptom
+aa0f8331319b6907279dc59262879f08f62bcf6d	@DISEASE$ is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and @PHENOTYPICFEATURE$.	has_symptom
+c4e5e6e74035d4f648265aeab0f67b470f0058cf	@DISEASE$ is an autosomal recessive disorder characterized by curly hair, @PHENOTYPICFEATURE$, and nail dysplasia.	false
+5a0749efa00b3db1c8818bd29f72386f273ce28e	CHAND syndrome is an autosomal recessive disorder characterized by curly hair, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2be22a7013312db9c58edfde81e6ca0c9dfac168	There were statistically significant differences (P?=?.010) of leukopenia between the 3 groups, and no statistically significant differences of (P?>?.05) thrombocytopenia, @PHENOTYPICFEATURE$, nausea, vomiting, and liver function lesions.TACE combined with ?-knife for primary @DISEASE$ is superior to TACE or ?-knife alone in short-term and long-term effects.	has_symptom
+0edd88694135279061bec75febca295be9396247	There were statistically significant differences (P?=?.010) of leukopenia between the 3 groups, and no statistically significant differences of (P?>?.05) thrombocytopenia, @DISEASE$, nausea, @PHENOTYPICFEATURE$, and liver function lesions.TACE combined with ?-knife for primary hepatocellular carcinoma is superior to TACE or ?-knife alone in short-term and long-term effects.	false
+2cd7705d878462693a2550f3b7cdb98cf2e4dc2a	There were statistically significant differences (P?=?.010) of leukopenia between the 3 groups, and no statistically significant differences of (P?>?.05) thrombocytopenia, anemia, nausea, @PHENOTYPICFEATURE$, and liver function lesions.TACE combined with ?-knife for primary @DISEASE$ is superior to TACE or ?-knife alone in short-term and long-term effects.	false
+6fe18219829888b8f1b5fc940951e52ac9e16c0e	There were statistically significant differences (P?=?.010) of leukopenia between the 3 groups, and no statistically significant differences of (P?>?.05) @DISEASE$, anemia, nausea, @PHENOTYPICFEATURE$, and liver function lesions.TACE combined with ?-knife for primary hepatocellular carcinoma is superior to TACE or ?-knife alone in short-term and long-term effects.	false
+e07262f02b7b6e7140e0beb7fcb85c5b9cc40b76	Among the 23 @DISEASE$ patients, the most frequent treatment-related Grade???3 AEs were neutropenia (47.8%), thrombocytopenia (34.7%), leukopenia (21.7%), @PHENOTYPICFEATURE$ (21.7%), and lymphopenia (17.4%).	has_symptom
+a7867d4c1db03f2419a063b0dca8e6066c79d339	A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage?gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lysine substitution at amino acid 82 (p.E82K) in LMNA, a p.F182L in KCNQ4 (a mutation associated with pathogenic @PHENOTYPICFEATURE$) and p.G426S in EYA1 (associated with Branchiootorenal syndrome 1 and @DISEASE$ pathogenesis).	has_symptom
+eac00cb8e05ab95909b352d1a3b0e01aee55115c	A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage?gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lysine substitution at amino acid 82 (p.E82K) in LMNA, a p.F182L in KCNQ4 (a mutation associated with pathogenic @PHENOTYPICFEATURE$) and p.G426S in EYA1 (associated with @DISEASE$ and Branchiootic syndrome 1 pathogenesis).	has_symptom
+79cb41e786f67f2813e34bea68ac4f10d25b2aff	@DISEASE$ is a nonprogressive developmental @PHENOTYPICFEATURE$, in which variants upstream of PRDM13 have been implicated.	has_symptom
+5676e984f45a0e425113b9eddcd0b1e262455cf8	@DISEASE$ is an autosomal recessive disorder with neonatal blister formation, photosensitivity, atrophy, @PHENOTYPICFEATURE$, and fragility of the skin.	has_symptom
+0bf4a566524c7a6cfb4a8e00e086a800c9516a67	@DISEASE$ is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, @PHENOTYPICFEATURE$, and fragility of the skin.	has_symptom
+daacb8d00ceb9e789333f8e20c76a848efcbe912	The @DISEASE$ is characterized by a specific pattern of platyspondylia, @PHENOTYPICFEATURE$, keratosulfate excretion in the urine, and dental abnormalities.	has_symptom
+36865cc04c534f32dab21ffc010bf0d4c5552194	The Morquio syndrome is characterized by a specific pattern of platyspondylia, @DISEASE$, keratosulfate excretion in the urine, and @PHENOTYPICFEATURE$.	false
+ec176292c834dc9b831782d6148bcfeab7bf21b5	The @DISEASE$ is characterized by a specific pattern of platyspondylia, corneal opacities, keratosulfate excretion in the urine, and @PHENOTYPICFEATURE$.	false
+97b33941acbe1105836d76858a145d6a240f069a	A recently described malonyl-CoA decarboxylase deficiency is associated with @DISEASE$ and clinical manifestations, including @PHENOTYPICFEATURE$.	has_symptom
+0cbb25b33b2f20206baa1ce1a2b1490edd1d8b28	A recently described @DISEASE$ is associated with malonic aciduria and clinical manifestations, including @PHENOTYPICFEATURE$.	has_symptom
+e32ce79a2968690d682ddcba72450c5b62e10312	The @DISEASE$ (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as cortical blindness, @PHENOTYPICFEATURE$, dementia and mental retardation.	has_symptom
+bc21b4e22391d922850d98605531650ed814eaf9	The @DISEASE$ (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further @PHENOTYPICFEATURE$ such as cortical blindness, spasticity, dementia and mental retardation.	false
+d26b6196666906c83ce81a23b626b6c1c7ca8a0a	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset @PHENOTYPICFEATURE$, dystonia and further neurological abnormalities such as cortical blindness, @DISEASE$, dementia and mental retardation.	false
+1b05aa650858b2e4f22d5f59dd2e7fd52fe51c59	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, @DISEASE$ and further neurological abnormalities such as cortical blindness, spasticity, dementia and @PHENOTYPICFEATURE$.	false
+fcf9e33f35b0e09965831d93e0d302bac2bdd0ae	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as cortical blindness, @DISEASE$, dementia and @PHENOTYPICFEATURE$.	false
+ecdd8e61b5a22a4bbae9cf1c77a90b9031ea03a1	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further @PHENOTYPICFEATURE$ such as cortical blindness, @DISEASE$, dementia and mental retardation.	false
+5763be290010897ec4bdcbeb39f41a5c78589c5c	The @DISEASE$ (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as cortical blindness, spasticity, dementia and @PHENOTYPICFEATURE$.	false
+560e33d6f35cf62b2aad434312ec07932a7d3f4d	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset @PHENOTYPICFEATURE$, dystonia and further neurological abnormalities such as @DISEASE$, spasticity, dementia and mental retardation.	false
+5513a3491e39a3cea3c2bc650a5bd5f4322b2d65	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further @PHENOTYPICFEATURE$ such as @DISEASE$, spasticity, dementia and mental retardation.	false
+a92267cc11d2f461ef489812f2ca1411b7441276	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset @PHENOTYPICFEATURE$, @DISEASE$ and further neurological abnormalities such as cortical blindness, spasticity, dementia and mental retardation.	false
+ec72af29c7f0f1dd72dc9014bb5f37ba06efb2fb	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as @DISEASE$, spasticity, dementia and @PHENOTYPICFEATURE$.	false
+bd9c8d5c2496e71b5b8f9a110e1eb21e3835e96c	The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, @DISEASE$ and further @PHENOTYPICFEATURE$ such as cortical blindness, spasticity, dementia and mental retardation.	false
+8407af4f11c1db0c0b9e9a70b2a389cba5b5736a	The @DISEASE$ (MTS) is a rare neurodegenerative disorder characterized by early-onset @PHENOTYPICFEATURE$, dystonia and further neurological abnormalities such as cortical blindness, spasticity, dementia and mental retardation.	false
+53d5862d2322240d54bf3583cfb4e53a9f01561d	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, @PHENOTYPICFEATURE$, mental deterioration, and blindness.	has_symptom
+6b04a0b88a1ba1f6c81590a0930faa5996e34319	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, @DISEASE$, mental deterioration, and @PHENOTYPICFEATURE$.	false
+5574355eba1e87032217bdaa35ea07acb154769c	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, @DISEASE$, spasticity, @PHENOTYPICFEATURE$, and blindness.	false
+02643420b89538281ffd6c469208c63d16020171	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, dystonia, @DISEASE$, mental deterioration, and blindness.	false
+28752ffc3facf13cbd80c5643ba2074eddddef64	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and @PHENOTYPICFEATURE$.	false
+b78681d3fa04dee25fa4084a85cf44cf5b409907	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, @PHENOTYPICFEATURE$, and blindness.	false
+42156d30ce940f9d6cb5edf805b881d4d8f4aea8	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, @DISEASE$, spasticity, mental deterioration, and blindness.	false
+4a0f85c0e79b38f98b71b83f1fbcc156dee36a8e	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, @DISEASE$, @PHENOTYPICFEATURE$, and blindness.	false
+831526802d049301637d53bf0a06d96fbd0449d4	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, @DISEASE$, spasticity, mental deterioration, and @PHENOTYPICFEATURE$.	false
+dc45e287955ce540f39c13999a55eb927ca7e960	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, dystonia, spasticity, mental deterioration, and blindness.	false
+653430a154442a891743d1b5e783a8da28fa06db	We think that the present report and that of Njolstad et al. describe a new condition very similar to @DISEASE$, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, @PHENOTYPICFEATURE$, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	has_symptom
+2805453050d5b95f81686700b84b84cd5f3dfb12	We think that the present report and that of Njolstad et al. describe a new condition very similar to @DISEASE$, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, @PHENOTYPICFEATURE$ of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	false
+b756e0fa89d424f5eadb5df319d2c6e759f49bd4	We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, @PHENOTYPICFEATURE$ of the lower limbs and facial anomalies (flat face, @DISEASE$, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	false
+31ddbffff5632ca3e6459a7221b7459238db65a9	We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, @PHENOTYPICFEATURE$ of the lower limbs and @DISEASE$ anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects).	false
+9afd65068cc6b3318a7cba2f6e4bffdd0643b16c	@DISEASE$ is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia.	has_symptom
+3ead66072fce600c9cb8cbe537848eaabc5cc4b0	@DISEASE$ is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+9ebb91c850a1b9ae6dd8833ab61fb13e4724b89f	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, @DISEASE$, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+169fb7409cd04813ffba1bae15823daee918564f	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @DISEASE$, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+b6e79ab2e29f2b57b333935b3e65dec8183173d3	MEDNIK syndrome is an autosomal recessive @DISEASE$ disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+affc6d9ed9f85de2df5869f8bf47bf895dce211e	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper @DISEASE$ characterized by intellectual disability, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+7faad4d44d02cf8c7904dfc183902ab16dc1ed84	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and @DISEASE$.	false
+c04a6c23dbe46d1e5a9df1df7198775815ae5ba9	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described @DISEASE$ metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+5b5a8d4b3d9b8f62d396336817d6cfcb6be2dad1	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, @DISEASE$, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	false
+9fe16eac2e3f790445c19bc6cd15e85ca290a389	Here in, we reported a case presented with ichthyosis and @PHENOTYPICFEATURE$ with @DISEASE$ that confirmed by mutation analysis in a Turkish child.	has_symptom
+b8f1d5c10d4dd54a7f2fb963f1c5dfef795c5e9d	@DISEASE$ (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	has_symptom
+44c3d298c7920fe6971c99a060a88237ec4b3cc1	MEDNIK syndrome (@DISEASE$, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+e1605a10af5415be7712236cf34251b1f1758080	@DISEASE$ (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+53c9f15379dfb890fb6f718178b782aa212d8a68	@DISEASE$ (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+d4e36247cbf1c73902ad98695563f9e2560248ed	MEDNIK syndrome (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis, and @DISEASE$) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+29da9bd6beb8aec22f8bb0589eb0625fe705b8b2	MEDNIK syndrome (@DISEASE$, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+155dd23ccb5785ae2f914e63d822619711eee404	MEDNIK syndrome (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, @DISEASE$, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+6007c0c8355b0cec78f4796149dd6063ee62f5d8	MEDNIK syndrome (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis, and @DISEASE$) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+79526eb01c0cf73fbfc9356c26d1081ed17c03f7	MEDNIK syndrome (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, @DISEASE$, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+b5e231dc3f36f9db018bb98b392d1e92087eba0e	@DISEASE$ (ADA) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, @PHENOTYPICFEATURE$ and metabolic abnormalities.	has_symptom
+a3c2652853ed9a20fce6270f31c764357154e9c0	Adenosine deaminase deficiency (@DISEASE$) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, @PHENOTYPICFEATURE$ and metabolic abnormalities.	has_symptom
+365f20a5e1f1b9e6e7437ea067ce1939c12a95c7	Long-term outcomes include developmental and behavioral disability, chronic muscle weakness, @PHENOTYPICFEATURE$, cerebral palsy, and attention deficit disorder (@DISEASE$).	has_symptom
+44a066de78a1a78f1949db24607d4851949f3f62	Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and @DISEASE$ are disorders characterized by @PHENOTYPICFEATURE$.	has_symptom
+5ea7af8eec1acdde5a277592196066c4783160e3	The @DISEASE$ or progeria is a rare @PHENOTYPICFEATURE$ syndrome characterized by premature aging and involvement of internal systems, such as the circulatory and locomotor.	has_symptom
+803aba5efb9152bde48717931d79db81d6357b38	By means of Questionnaires HTDM and SAM the heterosexual development and sexual activity were investigated in the following groups of males: 1. the control group consists of 345 married men from sterile marriages, who were adequately developed somatosexually, had normozoospermia in the ejaculate and a good potency; 2. in 48 unilateral and 57 bilateral adult cryptorchids; 3. in 101 married men with a distinct @PHENOTYPICFEATURE$, the long axis of both sexual glands being shorter than 30 mm; 4. in 110 patients with a Klinefelter's syndrome; 5. in 14 patients with @DISEASE$.	has_symptom
+9d744f7e3f38ac8898f9bda5a1ccd4a8b0f0f6c6	[@DISEASE$: osteopetrosis, renal tubular acidosis and @PHENOTYPICFEATURE$.	has_symptom
+7f43346996dbeccc4e437c1fc3866cdcb3e891f5	To date, three different structural gene mutations have been identified in patients with @DISEASE$ (osteopetrosis with renal tubular acidosis and @PHENOTYPICFEATURE$).	has_symptom
+7618a0775c66102cf7f6f8328d17cde6a78fc446	To date, three different structural gene mutations have been identified in patients with carbonic anhydrase II deficiency (@DISEASE$ and @PHENOTYPICFEATURE$).	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1177a559fcad5d027dee4e415dfaf73cf248d9e4	[Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+44b434a782f7caebcc930cbdeba031c41cda1f8d	[Syndrome associating: osteopetrosis, tubular acidosis, @PHENOTYPICFEATURE$ and @DISEASE$ due to carbonic anhydrase II deficiency.	false
+8989da0dda7bd1e3abc3c4de161ee8b9006a9307	[Syndrome associating: osteopetrosis, tubular acidosis, @PHENOTYPICFEATURE$ and cerebral calcifications due to @DISEASE$.	false
+a08cb6cb1b29a0b51051df6b244e48b216122ee1	Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+01ff91856213e2ec482aca0ee42747e459f9dbe9	@DISEASE$ identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and @PHENOTYPICFEATURE$.	has_symptom
+016c147f70c4121f5f54905c18a57dfcf1274f6f	Marble brain disease, also known as @DISEASE$, is a syndrome consisting primarily of renal tubular acidosis, @PHENOTYPICFEATURE$ and osteopetrosis.	has_symptom
+a34a06ebb73b992bd9397950a55c74c82aa9ad2f	@DISEASE$, also known as Guibaud-Vainsel syndrome, is a syndrome consisting primarily of renal tubular acidosis, @PHENOTYPICFEATURE$ and osteopetrosis.	has_symptom
+5d46bc0d5d19cf12adcb31d9c86128836b5896ad	@PHENOTYPICFEATURE$ in children with osteopetrosis caused by @DISEASE$.	has_symptom
+7aa5fa5c374c346c9907e25c70fa434cf152cdad	This autosomal recessive syndrome includes @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+bba7866d363eafb2256ac940b4a5afb8758c5af7	Carbonic anhydrase II deficiency syndrome: recessive @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ad9582273bddd3f5978dea44dc691f44307b771f	@DISEASE$ syndrome: recessive osteopetrosis with renal tubular acidosis and @PHENOTYPICFEATURE$.	has_symptom
+2f3fa35ba8aba90744986081bb612315499a49dc	@DISEASE$: recessive osteopetrosis, renal tubular acidosis and @PHENOTYPICFEATURE$ in three Saudi Arabian families.	has_symptom
+a522a116732d7c3d995753062c5c24704434264d	In 14 cases the trace was associated with hypoxic ischemic encephalopathy; 4 with meningitis; another 4 with early infantile epileptic encephalopathy (Ohtahara syndrome); 4 cases were attributed to drugs (4 with fentanyl associated in one case with phenobarbitone and in another with midazolam); 2 cases were due to early @PHENOTYPICFEATURE$ epilepsy; 3 to multiple organ failure; one to @DISEASE$ and another to leucinosis.	has_symptom
+dd187a3d0bc817e431045470f03a93e475a01bd9	Familial occurrence of @DISEASE$ and early @PHENOTYPICFEATURE$ epileptic encephalopathy is uncommon.	has_symptom
+a860121c7a5315fd8e5d93c4e0f80378248d75d3	Here we present the vigabatrin experience in two patients with early @PHENOTYPICFEATURE$ encephalopathy owing to nonketotic hyperglycinemia (@DISEASE$).	has_symptom
+da9b9762f62f948d1d4248b00d25d326c496d1ae	Here we present the vigabatrin experience in two patients with early @PHENOTYPICFEATURE$ encephalopathy owing to @DISEASE$ (glycine encephalopathy).	has_symptom
+1b9e1b7708afe8a91398bdf29f50e5f3cf504c1b	Here we present the vigabatrin experience in two patients with early @DISEASE$ @PHENOTYPICFEATURE$ owing to nonketotic hyperglycinemia (glycine encephalopathy).	false
+213a9d6d095069b81d981b688105373a62cf8431	Here we present the vigabatrin experience in two patients with early myoclonic @PHENOTYPICFEATURE$ owing to @DISEASE$ (glycine encephalopathy).	false
+d36c787d836f44b175bbb5b5a8a7dbfb2d52b790	Here we present the vigabatrin experience in two patients with early myoclonic @PHENOTYPICFEATURE$ owing to nonketotic hyperglycinemia (@DISEASE$).	false
+1bc91b2b28bd5190d4b593a3f13e4e3f21b7b9e0	PMEs should be distinguished from progressive encephalopathies with seizures (due to degenerative conditions such as GM2 gangliosidosis, @DISEASE$, Niemann-Pick type C, juvenile Huntington and Alzheimer disease) and progressive @PHENOTYPICFEATURE$ ataxias, which affect predominantly adults with progressive ataxia, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)	has_symptom
+fed37578eae66e13351a1f92f9c871274695b5db	PMEs should be distinguished from progressive encephalopathies with @PHENOTYPICFEATURE$ (due to degenerative conditions such as GM2 gangliosidosis, nonketotic hyperglycinemia, Niemann-Pick type C, juvenile Huntington and Alzheimer disease) and progressive @DISEASE$ ataxias, which affect predominantly adults with progressive ataxia, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)	false
+46a12ccdb9ae87526d78a98b8e6d317f68209e71	PMEs should be distinguished from progressive encephalopathies with @PHENOTYPICFEATURE$ (due to degenerative conditions such as GM2 gangliosidosis, nonketotic hyperglycinemia, Niemann-Pick type C, juvenile Huntington and Alzheimer disease) and progressive myoclonic ataxias, which affect predominantly adults with progressive @DISEASE$, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)	false
+c825dcb45cf57961cab7be6900fc94208d5ddde8	PMEs should be distinguished from progressive encephalopathies with @PHENOTYPICFEATURE$ (due to degenerative conditions such as GM2 gangliosidosis, nonketotic hyperglycinemia, Niemann-Pick type C, juvenile Huntington and @DISEASE$) and progressive myoclonic ataxias, which affect predominantly adults with progressive ataxia, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)	false
+2f1b6f0633b859895b02c17451c678de2b5306f2	PMEs should be distinguished from progressive encephalopathies with @PHENOTYPICFEATURE$ (due to degenerative conditions such as GM2 gangliosidosis, @DISEASE$, Niemann-Pick type C, juvenile Huntington and Alzheimer disease) and progressive myoclonic ataxias, which affect predominantly adults with progressive ataxia, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)	false
+d6a59e3ace6eae10eea3cd049103d4d63154c0d9	PMEs should be distinguished from progressive encephalopathies with @PHENOTYPICFEATURE$ (due to degenerative conditions such as @DISEASE$, nonketotic hyperglycinemia, Niemann-Pick type C, juvenile Huntington and Alzheimer disease) and progressive myoclonic ataxias, which affect predominantly adults with progressive ataxia, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)	false
+81193d0f4fe7a832e2939cf5c86ea8afcbc610a2	A 2-week-old infant who presented with @PHENOTYPICFEATURE$ encephalopathy had biochemical abnormalities consistent with @DISEASE$.	has_symptom
+d9f19fab882b9105659cba09d350ddf405611f0f	A 2-week-old infant who presented with myoclonic @PHENOTYPICFEATURE$ had biochemical abnormalities consistent with @DISEASE$.	false
+b026747abc515cc5a46da75aec8e13f875566ded	A 2-week-old infant who presented with @DISEASE$ @PHENOTYPICFEATURE$ had biochemical abnormalities consistent with nonketotic hyperglycinemia.	false
+6acb335714b26fd1969f6927ea4a2afddfd53860	An 11-year-old girl with @DISEASE$ who typically presented with a picture of early @PHENOTYPICFEATURE$ encephalopathy in the neonatal period is presented in this article.	has_symptom
+5521db7030a5962afa131f1a9f65f73ba400b90e	An 11-year-old girl with nonketotic hyperglycinemia who typically presented with a picture of early @DISEASE$ @PHENOTYPICFEATURE$ in the neonatal period is presented in this article.	false
+46fd5f8e8ba877c30a4a3f7b32ead53aa6962bb0	An 11-year-old girl with @DISEASE$ who typically presented with a picture of early myoclonic @PHENOTYPICFEATURE$ in the neonatal period is presented in this article.	false
+5066907f7e05c63bbad21c3811acad9cd4672ce2	@DISEASE$ is an autosomal recessive error of glycine metabolism, characterized by @PHENOTYPICFEATURE$, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death.	has_symptom
+d97e0fb36ced2f4fd30ee3c8a7dbcc7353cff1a6	Neonatal @PHENOTYPICFEATURE$ encephalopathy is of lesional or metabolic origin; @DISEASE$ is one of its causes.	has_symptom
+74362f6890fe4d98e38fb9107283f891c6675fca	Neonatal myoclonic @PHENOTYPICFEATURE$ is of lesional or metabolic origin; @DISEASE$ is one of its causes.	false
+6a9378589d86234112bac0587495dd1791a6acbd	Neonatal @DISEASE$ @PHENOTYPICFEATURE$ is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes.	false
+597d2ec41a0130ef4e0d50fcf10a5cd0fca90fcd	We report a neonate with the transient form of @DISEASE$ manifested by extreme hypotonia, lethargy, apnea, and @PHENOTYPICFEATURE$ and generalized convulsions in early neonatal life.	has_symptom
+c99bbfe88a85c873489a523ed1acdf9e0401d2b8	@DISEASE$ (ADHR; MIM 193100) is a hereditary disorder characterized by isolated renal phosphate wasting, @PHENOTYPICFEATURE$, and inappropriately normal 1,25-dihydroxyvitamin D(3) levels.	has_symptom
+129378f41503eeea38f9bce739ce5cdaf3f20b76	Among various causes of low serum phosphorous are inherited disorders associated with increased urinary excretion of phosphate, including @DISEASE$ (ADHR), X-linked hypophosphatemia (XLH), autosomal recessive @PHENOTYPICFEATURE$ (ARHP), and hereditary hypophosphatemic rickets with hypercalciuria (HHRH).	has_symptom
+3064c98c453cc0b60f3e301408f99b1a9f8c4b2b	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked @DISEASE$ hypophosphatemic rickets, autosomal recessive @PHENOTYPICFEATURE$ and tumoral calcinosis.	has_symptom
+e5adb7af247409760c2f57aa9ff106b92222efba	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant @DISEASE$ hypophosphatemia and @PHENOTYPICFEATURE$ calcinosis.	false
+e11ca8dd32bced89ee6c6572f4fc0005e99c5a50	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and @DISEASE$ disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal recessive hypophosphatemia and @PHENOTYPICFEATURE$ calcinosis.	false
+852ca990f078054ee4e8b76e5591528ba1a47946	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various @DISEASE$ and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal recessive hypophosphatemia and @PHENOTYPICFEATURE$ calcinosis.	false
+53f07701d77dab8c858dcd109df567fd00296fa7	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal recessive hypophosphatemia and @PHENOTYPICFEATURE$ @DISEASE$.	false
+babae5a49169a9cd773d92f9e1fde9a68bde16b0	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked @DISEASE$ hypophosphatemic rickets, autosomal recessive hypophosphatemia and @PHENOTYPICFEATURE$ calcinosis.	false
+7c24ab3dd98b55be2a3f84df0ee71ae117b6327b	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal recessive @DISEASE$ and @PHENOTYPICFEATURE$ calcinosis.	false
+b6451b397f26903c277c0365308976bb5682f2b1	@DISEASE$ (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, @PHENOTYPICFEATURE$, and inappropriately normal 1,25-dihydroxyvitamin D(3) (calcitriol) levels.	has_symptom
+10de918fc5bf1314a67b3f0616ebb9a64170a754	Oncogenic osteomalacia (OOM), X-linked hypophosphatemia (XLH), and @DISEASE$ (ADHR) are phenotypically similar disorders characterized by @PHENOTYPICFEATURE$, decreased renal phosphate reabsorption, normal or low serum calcitriol concentrations, normal serum concentrations of calcium and parathyroid hormone, and defective skeletal mineralization.	has_symptom
+a1bd53fd0fadb042672f3cf299421b43468da4ad	We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of @PHENOTYPICFEATURE$ @DISEASE$ (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene.	has_symptom
+3f07cc44ec6d8e98ebf425366c414e918015af2f	We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of @PHENOTYPICFEATURE$ retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked @DISEASE$ GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene.	has_symptom
+24b7a0c0b1e503d0c4b3d35d8366d229627068f0	Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+f4f1fd56f7f5ef3f608a3b045ef407dec2b37620	Mutations in the X-linked @DISEASE$ genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of @PHENOTYPICFEATURE$ retinitis pigmentosa.	has_symptom
+1b75a48cb09de3cf32df1aef05919a18d39f9f61	@DISEASE$ is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, @PHENOTYPICFEATURE$, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.	has_symptom
+5e05f80cb380f2fdaec9b094bb0d707fbec17dd2	Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, @DISEASE$, alterations in the white matter of the brain, @PHENOTYPICFEATURE$, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.	false
+dda0f1cfb5fc6e5796b1a45c5f278d80b226a500	@DISEASE$ is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, @PHENOTYPICFEATURE$, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.	false
+42288c6948808c72cad2d61abd43da019ac29803	A 30-year-old, non-Jewish proband in the first family had @DISEASE$ that evolved to mild dementia, @PHENOTYPICFEATURE$, and axonal (neuronal) motor-sensory peripheral neuropathy.	has_symptom
+55a06b2e24a9d75176f339d2897a3e46f0ccb29f	SEN1 is an ortholog of human SETX (senataxin), which has been implicated in the neurological disorders @PHENOTYPICFEATURE$-ocular apraxia type 2 and @DISEASE$.	has_symptom
+51b8171c4c20645b1a179791875bc2dddae8ee67	SEN1 is an ortholog of human SETX (senataxin), which has been implicated in the neurological disorders @DISEASE$-ocular @PHENOTYPICFEATURE$ type 2 and juvenile amyotrophic lateral sclerosis.	false
+d839f49c3b5c809c443a2d0bef670452041f2f30	SEN1 is an ortholog of human SETX (senataxin), which has been implicated in the @DISEASE$ ataxia-ocular @PHENOTYPICFEATURE$ type 2 and juvenile amyotrophic lateral sclerosis.	false
+7265aa80f35b8bebc98189f396874f138c602e73	SEN1 is an ortholog of human SETX (senataxin), which has been implicated in the neurological disorders ataxia-ocular @PHENOTYPICFEATURE$ type 2 and @DISEASE$.	false
+5262aa5b3caf1260708b1920391c19178a826f64	Alstr?m syndrome is a rare inherited ciliopathy in which early progressive @DISEASE$ leads to childhood @PHENOTYPICFEATURE$.	has_symptom
+076165464d6a76db20923a3a2dd339e50f8f93b3	This is the first GUCY2D mutation associated with autosomal recessive @DISEASE$ rather than Leber's congenital amaurosis (LCA), a severe disease leading to childhood @PHENOTYPICFEATURE$.	has_symptom
+bd2c05a76cd31ea7eb6c8685d1dcc56e15249c70	Human daylight vision depends on cone photoreceptors and their degeneration results in visual impairment and @PHENOTYPICFEATURE$ as observed in several eye diseases including age-related macular degeneration, @DISEASE$, or late stage retinitis pigmentosa, with no cure available.	has_symptom
+84b106f3e307003b18727a92a75573a31e81b73a	Human daylight vision depends on cone photoreceptors and their degeneration results in @PHENOTYPICFEATURE$ and @DISEASE$ as observed in several eye diseases including age-related macular degeneration, cone-rod dystrophies, or late stage retinitis pigmentosa, with no cure available.	false
+563f4096015fad56fc325762c6d741c98d3df294	Human daylight vision depends on cone photoreceptors and their degeneration results in @PHENOTYPICFEATURE$ and blindness as observed in several eye diseases including age-related macular degeneration, cone-rod dystrophies, or late stage @DISEASE$, with no cure available.	false
+5c921c1f71bf95c07f3b9f2cdf55b3743aff8af2	Human daylight vision depends on cone photoreceptors and their degeneration results in @PHENOTYPICFEATURE$ and blindness as observed in several eye diseases including @DISEASE$, cone-rod dystrophies, or late stage retinitis pigmentosa, with no cure available.	false
+a56849fdbef515eca3c34134f6699d7ef6e674c7	Human daylight vision depends on cone photoreceptors and their degeneration results in @PHENOTYPICFEATURE$ and blindness as observed in several eye diseases including age-related macular degeneration, @DISEASE$, or late stage retinitis pigmentosa, with no cure available.	false
+b3e6358fd2f88e30e95963efd8fc1e1d12399426	Alstr?m Syndrome is multisystemic, with @DISEASE$ leading to juvenile @PHENOTYPICFEATURE$, sensorineural hearing loss, obesity, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus.	has_symptom
+fd120fc6ceeb5d8d9fd40d20528263078da886ef	Alstr?m Syndrome is multisystemic, with @DISEASE$ leading to juvenile blindness, sensorineural hearing loss, @PHENOTYPICFEATURE$, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus.	false
+be4e320457630f523edf7b7a2365a5f363906dc7	Alstr?m Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, @PHENOTYPICFEATURE$, obesity, insulin resistance with @DISEASE$, and type 2 diabetes mellitus.	false
+c4c7b6c162c74c553243d858c565a97108407b23	Alstr?m Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, @PHENOTYPICFEATURE$, obesity, insulin resistance with hyperinsulinemia, and @DISEASE$.	false
+018e36281cbaf2207a77bcb8baa4a6994334338e	Alstr?m Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, @PHENOTYPICFEATURE$, insulin resistance with @DISEASE$, and type 2 diabetes mellitus.	false
+5be42e9cf7d2b56c40e48a753545433fb4869063	Alstr?m Syndrome is multisystemic, with @DISEASE$ leading to juvenile blindness, @PHENOTYPICFEATURE$, obesity, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus.	false
+b8113c173b398fe3eeffc6270e065a67bfe00efe	Alstr?m Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile @DISEASE$, @PHENOTYPICFEATURE$, obesity, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus.	false
+faf53686f089e56b122b87c280af7ea4e8877afa	Alstr?m Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile @DISEASE$, sensorineural hearing loss, @PHENOTYPICFEATURE$, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus.	false
+86a3c01e0f9cae61411c4919aec6383d94dd5643	Alstr?m Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, @PHENOTYPICFEATURE$, insulin resistance with hyperinsulinemia, and @DISEASE$.	false
+f3c6dda90aca93c75a4b034bbaa3691b5b39205a	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with @DISEASE$ causing juvenile @PHENOTYPICFEATURE$, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss.	has_symptom
+7f46d7cb0003558ad48cea7c093b141016d35ff8	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile @DISEASE$, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and @PHENOTYPICFEATURE$.	false
+e1a9ccd8e461154702f6ce70f6c71de68331326b	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with @DISEASE$ causing juvenile blindness, @PHENOTYPICFEATURE$, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss.	false
+791a0a5a210510a4ab10df5528f39e2367d89fb8	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, @PHENOTYPICFEATURE$, insulin resistance, @DISEASE$, hypogonadism and sensorineural hearing loss.	false
+994e59ae78b5f1ca84cf4a633f699f56004e2002	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1e1edc0dbc73d373613e38d709b64920eaa879a2	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with @DISEASE$ causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and @PHENOTYPICFEATURE$.	false
+4a114d67ad0b7adee0d886ff3af88e3ed7f4d342	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, @PHENOTYPICFEATURE$, insulin resistance, type 2 Diabetes mellitus, @DISEASE$ and sensorineural hearing loss.	false
+c812fa9fb9defed47af50db2dceae9cb5121c292	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile @DISEASE$, @PHENOTYPICFEATURE$, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss.	false
+773f1dde03886abb808d97b47d0b43b34fdbd829	It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, @DISEASE$, hypogonadism and @PHENOTYPICFEATURE$.	false
+b5113b2e73705717c819ddef0ceb59c36c78b4a5	Clinically, patients with Alstr?m syndrome develop @DISEASE$ leading to eventual @PHENOTYPICFEATURE$, sensorineural deafness, and normal intelligence.	has_symptom
+01c037b6b14d19d2209c0f393284de383671c734	Clinically, patients with Alstr?m @DISEASE$ develop cone-rod dystrophy leading to eventual blindness, @PHENOTYPICFEATURE$, and normal intelligence.	false
+b79af95d84edcf5086189b439d20aba45c0f3893	Clinically, patients with Alstr?m syndrome develop cone-rod dystrophy leading to eventual @DISEASE$, @PHENOTYPICFEATURE$, and normal intelligence.	false
+3905120f4a101c2f18feaeff4cbc2d7e8abdfb05	Clinically, patients with Alstr?m syndrome develop @DISEASE$ leading to eventual blindness, @PHENOTYPICFEATURE$, and normal intelligence.	false
+2d5f3b4a6f8462b70ef1857e7a22d79f82f731a0	Clinically, patients with Alstr?m syndrome develop cone-rod dystrophy leading to @DISEASE$ blindness, @PHENOTYPICFEATURE$, and normal intelligence.	false
+4dbe6214debd13063718fd8bc3ec9ece58c7a494	124 children under 6 years of age with nystagmus, @PHENOTYPICFEATURE$, neurological disease, @DISEASE$ in the family, or abnormal fundus appearance were examined.	has_symptom
+6d273c261e4912413738174b685240f96d828b96	Alstr?m Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early @DISEASE$ and @PHENOTYPICFEATURE$, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure.	has_symptom
+ee6e769dce40198103b8b9ba50dedcf96a1b83c4	Alstr?m Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early @DISEASE$ and blindness, hearing loss, childhood @PHENOTYPICFEATURE$, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure.	false
+41e990a36fe077c7eb99ce5bfa606cacf0d6c28b	Alstr?m Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood @PHENOTYPICFEATURE$, type 2 diabetes mellitus, @DISEASE$, fibrosis, and multiple organ failure.	false
+682fe58cba9355a3f3ee465359f2c90d78fe7307	Alstr?m Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, fibrosis, and multiple organ failure.	false
+5c1dcb3a292e282822f2606339d4e5fb8802db8d	Alstr?m Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, @DISEASE$, childhood @PHENOTYPICFEATURE$, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure.	false
+283d86150b00559250b3c3f012f29ae57704e740	Alstr?m Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and @DISEASE$, hearing loss, childhood @PHENOTYPICFEATURE$, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure.	false
+3ffc44921e360d309429a254675415c7ad8e1761	@DISEASE$ (CH) has an incidence of 1/3000-4000 newborns and is among the most frequent cause of @PHENOTYPICFEATURE$ and neurological alterations in children.	has_symptom
+1f2b20abacba55c18e008db1eb6733ceb99e1ef7	Dermal fibroblasts from an @PHENOTYPICFEATURE$ @DISEASE$ (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus.	has_symptom
+a041bc34428c62998ec4ee272a6c9eff8c983dcc	Usher syndrome is an @PHENOTYPICFEATURE$ disorder that causes hearing loss, @DISEASE$ (RP) and vestibular dysfunction.	has_symptom
+b8c3d358d155d6e08144a01717692f906a9ba063	Usher syndrome is an autosomal recessive disorder that causes hearing loss, @DISEASE$ (RP) and @PHENOTYPICFEATURE$.	false
+e610374e56076d1277b93a9cd012ac34afd18886	@DISEASE$ is an autosomal recessive disorder that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+a04170ed08242d43b2952627caa2c073d853b241	Usher syndrome is an @DISEASE$ disorder that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+eee5fe0dee92c9d7142536af3701f1930d7d1559	Usher syndrome is an autosomal recessive @DISEASE$ that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+af452495ed70bd81ecb5c103990edc8820e94963	Usher syndrome is an autosomal recessive disorder that causes @DISEASE$, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+04409216519b04a7cc6959b1f2fe06c96ebc6811	To determine the refractive error in patients with @PHENOTYPICFEATURE$ @DISEASE$ (arRP) caused by RP1 mutations and to compare it with that of other genetic subtypes of RP.	has_symptom
+fbf776e807de5919bcfe9d1547d0b75038ea8fe2	The differential diagnosis includes retinopathy of prematurity, primary hyperplastic primary vitreous, Coats' disease, peripheral @PHENOTYPICFEATURE$, @DISEASE$, and Norrie's disease, but this differentiation can usually be made on the basis of clinical findings alone.	has_symptom
+6661760b6c93bf7f44313d6115383a7b02720f35	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	has_symptom
+0822f9567298a0eac22627da39b64ac05301801f	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @DISEASE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+3c81bbf8ec1bc36f222891d0ec9ae831e0004876	The frequency distribution of the various subtypes of @DISEASE$ was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+2086eda3eb1067df7cab016f6d3d62d13c6c988f	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), @DISEASE$ secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+eedeb4cdc978446b76dd4db74f2b9248580a4bfd	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), @DISEASE$ secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+0401a9df0090813b5226bd7e03fdab2491d85429	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), @DISEASE$ (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+59e04fa2f51d31aa97b1a8223b9a9a43e1c7f974	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+6fc84c4bc3f22fceaad17b0d26e7d5beb9e97ffb	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), @DISEASE$ secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+2a51e414f6d714b05ba1b7940bed45647b0b42ab	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), @DISEASE$ (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+db1877116ed8c5e0efe1eeb7ccdc2d727c9fc1f8	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+ef305d408ec2aa873609335f9a00387080ab0cd4	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), @DISEASE$ (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+228e9f182b07323c26adf473a2217aa2b67e4326	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and @DISEASE$ associated with retinoblastoma (0.6%);	false
+2822864c883336332bcd1908cd939a601e2bb147	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+3976d1281f94d58e952cdb5ca017c51e2c36c905	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and @DISEASE$ associated with retinoblastoma (0.6%);	false
+b158d0870d2c44a9d8b65b1d6e7299d70c159c55	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+23273001f09b1ddbac14b4886bbeb82e5546891f	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+c5f94fcc41a85a6bd23148c570fd1d098fbc66c0	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), @DISEASE$ (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+dff3629b96f93ba519e727db550e9b91aef8b659	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), @DISEASE$ (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+fcda37a4bf38fec4264a9f7f6b84a7cbf47a029a	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic @DISEASE$ (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+ae649ebbf00f2fde02bd97970ca3c7f672a30990	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	false
+3936757671aaf1bc43ba85d47148a0d130cacbfa	The frequency distribution of the various subtypes of @DISEASE$ was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+e85b004e3c6622db7b57b2c295ce936df346f304	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), @DISEASE$ (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+b3105434a39fc066df0fb77a655a956f376967a1	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @DISEASE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+ae929701b0b05490523733559e4db5ff61e8a862	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative @DISEASE$ (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+9b852ddb1e5511f0392155192b9ca6b0bdb638b9	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), @DISEASE$ (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+0925026bfaf2feaef6b410f1dab502a7315e874d	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), @DISEASE$ (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+ca7807c6b915bbb3f8fc1525244679c278af7beb	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @DISEASE$ @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+af325404a97107a4a62142f054ccb3b4ecb8d90f	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and @DISEASE$ associated with retinoblastoma (0.6%);	false
+aea77af210e64bb4936d33c68e7ca599981e7cb4	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), @DISEASE$ (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+e4479a3713f56aa41faf76a352937df2d5b1a413	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic @DISEASE$ (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+7d3b136e73ea2872d8fdb10b54f095775508138a	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+8cd01b45ac4e0740c0e1bfd99716d51da8f061d1	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), @DISEASE$ (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+dfd6f73da6a2545f2bf7017ccbb44951feaa4b99	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic @DISEASE$ (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+eb379c2e4d3633b0809560eca344bc23188609d4	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), @DISEASE$ (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+1e952776e7ed097d8ac6e49b4639f3bc06c6e3a1	The frequency distribution of the various subtypes of @DISEASE$ was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+61602d497e5f16c690814d8a9a85a5a1697a2c44	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative @DISEASE$ (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+45ef2fcbab8de48feae76a1c0e75573fc295bddc	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	false
+4369dc47c1dbcdf5d7d93ddeac38d2aeace3fbb7	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), @DISEASE$ (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+6ecf0ed056bdb11fc4127f1ac0121a64dc2cc8f6	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with @DISEASE$ (0.6%);	false
+07eb6354b52741c7917f569dc3c94e6d6d8150ef	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative @DISEASE$ (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+2b61534dcfe66b3e9313f393d3a64e105f284ef8	@DISEASE$ (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, @PHENOTYPICFEATURE$, dysplastic ears, choanal atresia, and short stature.	has_symptom
+0d94f3c0e5c6e39bd4105dabed02d868d317f9af	@DISEASE$ (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and @PHENOTYPICFEATURE$.	false
+a6b17316d1a87b63785b599a06fa07035ab158da	Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, @DISEASE$, dysplastic ears, choanal atresia, and @PHENOTYPICFEATURE$.	false
+017b7da661193d5523aab88941ea3a2b6af618a7	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of @DISEASE$ (MFDGA), characterized by mandibulofacial dysostosis, @PHENOTYPICFEATURE$, external ear malformations and intellectual disability.	has_symptom
+71ba0c62973b7ebdea4cbb868a2e0f73cf1b31c8	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by @DISEASE$, microcephaly, external ear malformations and @PHENOTYPICFEATURE$.	false
+1da154fdd504938c48268bf1f0c9b0a06e73e989	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of @DISEASE$ (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and @PHENOTYPICFEATURE$.	false
+a6fdec8c4464f0225769469e72c6258d939c62e5	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, @DISEASE$, external ear malformations and @PHENOTYPICFEATURE$.	false
+aaf533f46bc237faee8a52c06a9ff52cf5e25049	@DISEASE$ (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, @PHENOTYPICFEATURE$, developmental delay, and a recognizable dysmorphic appearance.	has_symptom
+9e8d886b49344041acdca5d49b9b0d69498bbded	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	has_symptom
+96c956e64d6a98210bf86d73a3b767421192d5f7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9cf336e07052cf48f850fefdbaa3e190458aef65	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+0f8886c3a45621fb9dca49c158c619947c6e5060	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8411ca523b05980a8ee2db86ed8172ff300d9a35	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+4cb9b94312b680e15a25687b54fdcbf2351f421c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+e95e16c8f1922381bb3cd426b736173ba9ab0eb7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+97c60795bb56d4ed0fe1947c839a225da96a6e88	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+44e55b53827b8b39537ab647dea81f1277d8fb87	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @DISEASE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+5930e31bbce983ce9bcc3c8daed33f27b367901b	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @DISEASE$, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+d75a36a46ba1583f725a6b66daa42a0484e083d1	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+26bb65abb58cd8853f25e6814cc70ca61d4057ca	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+38ce9a265ff523c44dda4793033ec7478833c5f6	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @DISEASE$, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+40a1887773095632466499076eae22d78e674265	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+f47a0beee0097d79085094b71dd5eac545f1fb8d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+defcd9ddc76949a24b804a03d9004a052b3cf301	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8c83c7a25ca7a7e133fe1b626ae54e092145278d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9ed9083a39f4473f329dc0f7a7312acba24047b7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+d3c0a7732874633134a1ea0f41961482c5c387c2	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+289e67a56e0fe8193e25b926ac268147405ad585	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, @DISEASE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+953d0632094e4f494f2559c77dc9727ec75356e5	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+a3dc7caa47f7101396d156911c0d181b6ff8f8b7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+83521e40ca71e7ed7c2cfdc99207aebbf8a17625	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+94054111337bf7c055e09d0c43983dc8f15aa1e0	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+60559ead1457916d071298038ba2df4b799372a3	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+da4fc95a57b9ca060c0f1dfea07a079a948e4922	@DISEASE$ (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, @PHENOTYPICFEATURE$, developmental delay, and dysmorphic features.	has_symptom
+76020907ba69f2efe962a77e37baacba128d3545	@DISEASE$ (MFDM) is a multiple malformation syndrome comprising @PHENOTYPICFEATURE$, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.	has_symptom
+f5996ac7165f298227d60532f8f22b2658b89854	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, peripheral dysostosis, variable short stature, and intellectual impairment.	has_symptom
+2657da8b1fdbce3a81b235c23123b54ca415f92f	Acrodysostosis is characterized by @DISEASE$, peripheral dysostosis, variable @PHENOTYPICFEATURE$, and intellectual impairment.	false
+bdc1d3718617ad36ca4184bc1ce2128e4b2c96fb	@DISEASE$ is characterized by nasal hypoplasia, peripheral dysostosis, variable @PHENOTYPICFEATURE$, and intellectual impairment.	false
+8a0638fb648f2fc207a44b774a2768db5b6c3d8e	@DISEASE$ is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and @PHENOTYPICFEATURE$.	false
+2d3b0b22a714213e0ef2d2affb0fd03ee8b9fba2	Acrodysostosis is characterized by nasal hypoplasia, @DISEASE$, variable short stature, and @PHENOTYPICFEATURE$.	false
+56c78ddf167be4e114f4c49a47a45064c60107d7	Acrodysostosis is characterized by nasal hypoplasia, @DISEASE$, variable @PHENOTYPICFEATURE$, and intellectual impairment.	false
+92baced96ddf55b6986922c23c13e154fdd82dff	Acrodysostosis is characterized by @DISEASE$, peripheral dysostosis, variable short stature, and @PHENOTYPICFEATURE$.	false
+ac9d678b1896d9155dcbb42f008902c3aeeaaff6	Patients with @DISEASE$ typically present with profoundly impaired well-being, hypotension, @PHENOTYPICFEATURE$, and fever responding well to parenteral hydrocortisone administration.	has_symptom
+17ac1b2995687f1ccf971941b47a25cd2abfbf77	@PHENOTYPICFEATURE$ and left ventricular dysfunction in @DISEASE$.	has_symptom
+3fe240e33784d5dbf2d563d5a943d5de9efb1e8a	Isolated left ventricular noncompaction is a @DISEASE$ in which a variety of supraventricular and @PHENOTYPICFEATURE$ could be observed.	has_symptom
+81bafd930cf8cda952db8184ea30a92dbc142bde	Isolated @PHENOTYPICFEATURE$ is a @DISEASE$ in which a variety of supraventricular and ventricular arrhythmias could be observed.	false
+1630a7953495965652339104b61d8d32686e96d9	Isolated @PHENOTYPICFEATURE$ is a hereditary cardiomyopathy in which a variety of supraventricular and @DISEASE$ could be observed.	false
+ea7ffaf8f9da99584fe22bed9a8f1a8c728feacb	LMNA mutation could cause @DISEASE$ with insignificant LV remodeling, early-age onset of advanced AV block, and lethal @PHENOTYPICFEATURE$.	has_symptom
+95e3a6a026b6e83eb17cecd4778470cf92e0884d	A 36-year-old non-diabetic man presented with two months of intermittent retro-orbital @PHENOTYPICFEATURE$ and third nerve paresis caused by compression of the oculomotor nerve between an ectatic, atherosclerotic posterior communicating artery (PComA) and a small tentorial @DISEASE$.	has_symptom
+322f0b3ba228c214f7dec2803cb1abb4c1fb6bf2	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	has_symptom
+fb8ab99912e541b7ca04b262e177b52f9b02b5c8	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an @DISEASE$ with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+702a0df6d075236bfcc1ea27e3da431597393ba2	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+2b18c9d4aca4dacdb6de0aa87c92cebe8dd2aae1	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and @DISEASE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+1ec29bf08807ce152050234379c2d947a70b2805	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+df1bc140f1739f28e0d7e7e545436eae902f85e0	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, seizures, elevated alkaline phosphatase, brachytelephalangy and @DISEASE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+036a7d3e4fa3f3ae44a32c6c61721925282d3481	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an @DISEASE$ with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+8164a890035ccf657d7db7edc0e2833f883e9154	@DISEASE$ (HPMRS), an autosomal-recessive form of intellectual disability characterized by @PHENOTYPICFEATURE$, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	has_symptom
+4ae8e191674c07fc71d72609b69381464bad79be	Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by @DISEASE$, @PHENOTYPICFEATURE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+df5660c917e0290e56c7ef2373fbcb2e0e742917	@DISEASE$ (HPMRS), an autosomal-recessive form of @PHENOTYPICFEATURE$ characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+5fc60100d0091757f1b71a3ff396486b3003ef27	Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of @PHENOTYPICFEATURE$ characterized by @DISEASE$, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+b3bf9bf61a81d4253898385704d9ac255303d49a	@DISEASE$ (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, @PHENOTYPICFEATURE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+f210eeb9bc9670cd597cbffcd5bb8a08839fb4ca	A 32-year-old woman with @DISEASE$ (OI) was admitted to the hospital because of a right-sided occipital headache and facial @PHENOTYPICFEATURE$.	has_symptom
+183cd07226671c63672c581371c395bc3e3a6bf6	A Japanese patient presented with @DISEASE$ and severe @PHENOTYPICFEATURE$.	has_symptom
+a04eb52099dca089aa0ff8e080b047a0fe5ffcd2	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by @PHENOTYPICFEATURE$, intellectual disability, dysmorphic features, @DISEASE$, seizures, and agenesis of the corpus callosum.	has_symptom
+658123b032a3c20b0639a3ea3c4069a3279a583a	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental @DISEASE$ characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and @PHENOTYPICFEATURE$.	false
+e3b0cb57ae371d5633ca9e55a8d1d9f7a5ccc949	DNA alterations in the 1q43-q44 region are associated with @DISEASE$ neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, @PHENOTYPICFEATURE$, and agenesis of the corpus callosum.	false
+72175915ebec72f1612c36a1b1043c9f9f1511d3	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental @DISEASE$ characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, @PHENOTYPICFEATURE$, and agenesis of the corpus callosum.	false
+5e30ffaf9f82d29b3d075c75598858a3f967d44a	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by @DISEASE$, intellectual disability, dysmorphic features, microcephaly, seizures, and @PHENOTYPICFEATURE$.	false
+64df07bfefa158907481185bc9947c041870dd2c	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental @DISEASE$ characterized by global developmental delay, @PHENOTYPICFEATURE$, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum.	false
+5b7491a4b2012fcb0800c63cfb61cf1ce33e8bb6	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, @PHENOTYPICFEATURE$, dysmorphic features, @DISEASE$, seizures, and agenesis of the corpus callosum.	false
+67a2c4501383b07aa9b4a072f2e2b158dc898ecc	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by @DISEASE$, intellectual disability, dysmorphic features, microcephaly, @PHENOTYPICFEATURE$, and agenesis of the corpus callosum.	false
+019f2e9863f9b9c3c50401f7c469c15e5310150f	DNA alterations in the 1q43-q44 region are associated with @DISEASE$ neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and @PHENOTYPICFEATURE$.	false
+212857247314027ba1ebac39ca3802a2087a7f2d	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, @DISEASE$, seizures, and @PHENOTYPICFEATURE$.	false
+20c836c5a8525fc1bb291897a9ebc68a71d0c664	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum.	false
+fbffff10d976873d9e3f2d544d9e88c026aa13cb	DNA alterations in the 1q43-q44 region are associated with @DISEASE$ neurodevelopmental disorders characterized by global developmental delay, @PHENOTYPICFEATURE$, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum.	false
+7750ca3c4ffe881a5624afd9f37b91dcb160f5c0	DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, @DISEASE$, @PHENOTYPICFEATURE$, and agenesis of the corpus callosum.	false
+3cb7ebf8841d66345efa001dc62d00980a0e4fdd	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, seizure disorders, and cerebral palsy.	has_symptom
+7ca27bf5b04c2ff2fe12b8b4c9f5fe84b5329d27	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, @PHENOTYPICFEATURE$, @DISEASE$, development delay, seizure disorders, and cerebral palsy.	false
+8a6eddf69b53516e7046ff866d577fd9e522f08b	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, mental retardation, microcephaly, @DISEASE$, seizure disorders, and @PHENOTYPICFEATURE$.	false
+5716d9b83e795b1daa88a9d64e0fd5b00dc3235c	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, seizure disorders, and cerebral palsy.	false
+fe528109f43587748accabb079c93ea83f68e69b	Approximately 10% of congenitally infected infants have symptoms of disease at birth: @PHENOTYPICFEATURE$, mental retardation, microcephaly, development delay, @DISEASE$, and cerebral palsy.	false
+08e54a3c89bd4163da2ef97ae435200bc5e43c3c	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, mental retardation, microcephaly, development delay, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6758586ecfae88b83fc1a764ebf60d4af7c8ceb3	Approximately 10% of congenitally infected infants have symptoms of disease at birth: @PHENOTYPICFEATURE$, mental retardation, microcephaly, @DISEASE$, seizure disorders, and cerebral palsy.	false
+7ef895390280bd423bd1f1ce68473e1dd114839e	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, @PHENOTYPICFEATURE$, microcephaly, development delay, @DISEASE$, and cerebral palsy.	false
+a3edfc9ae57cc4149bc300060d6dfcd4bc19dd66	Approximately 10% of congenitally infected infants have symptoms of disease at birth: @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, development delay, seizure disorders, and cerebral palsy.	false
+767c539b89d26e259848598ef2e2c747d65fb443	Approximately 10% of congenitally infected infants have symptoms of disease at birth: sensorineural hearing loss, mental retardation, @DISEASE$, development delay, seizure disorders, and @PHENOTYPICFEATURE$.	false
+9485029e21cb61842430d2a7145a76424c9bf93c	The new World Health Organization (WHO) diagnostic criteria for @DISEASE$ (ET) issued in 2008 made an important distinction between true ET and early @PHENOTYPICFEATURE$ (MF), which has helped to identify a more homogenous population for the diagnosis with longer survival and much less transformation to overt MF.	has_symptom
+de7909ab2f78b751a4c0354b27f99f65d5976650	Phase II trial of panobinostat, an oral pan-deacetylase inhibitor in patients with primary myelofibrosis, post-@DISEASE$, and post-polycythaemia vera @PHENOTYPICFEATURE$.	has_symptom
+e8ca5e58bec67d5a4e19363a3791daba83ce2e67	The levels of plasma proMBP were measured by radioimmunoassay in 25 healthy controls, 23 patients with systemic mastocytosis (SM), 11 patients with idiopathic eosinophilia (IE) and a cohort of 170 patients with MPN which included 76 patients with de novo @PHENOTYPICFEATURE$, 42 with polycythemia vera (PV), 17 with postpolycythemic myeloid metaplasia (Post-PV MF), 21 with @DISEASE$ (ET) and 14 with postthrombocythemic myeloid metaplasia (Post-ET MF).	has_symptom
+8d47a4ff20ebdd983aacbd918eee9cb0717fceb4	We assigned 219 patients with intermediate-2 or high-risk primary myelofibrosis, post-polycythemia vera @PHENOTYPICFEATURE$, or post-@DISEASE$ myelofibrosis to receive oral ruxolitinib or the best available therapy.	has_symptom
+c0374c30951701100cd7739e0cdbe37c3dc456f9	A phase II study of 5-azacitidine for patients with primary and post-@DISEASE$/polycythemia vera @PHENOTYPICFEATURE$.	has_symptom
+3d2615652474e83441d295d266b34e7717e98bcb	This single-arm, open-label, non-randomised, phase 2, multicentre study, done at 31 sites in nine countries, enrolled adult patients with a current diagnosis of intermediate or high-risk primary myelofibrosis, post-polycythaemia vera @PHENOTYPICFEATURE$, or post-@DISEASE$ myelofibrosis, found to be ruxolitinib resistant or intolerant after at least 14 days of treatment.	has_symptom
+8843486f28b55ffb78cd368585b3f9e9e1b688e3	With the approval of ruxolitinib by the US Federal Drug Administration in November 2011 for high-risk and intermediate-2 risk myelofibrosis, a change in paradigm has occurred in the management of a subset of myeloproliferative neoplasms (MPN): primary myelofibrosis, post-polycythemia vera @PHENOTYPICFEATURE$, and post-@DISEASE$ myelofibrosis.	has_symptom
+31c92236cf9aeb6eefa08672ae350d69b9534d30	Chemotherapy treatment can lead to delayed gastric emptying, early satiety, anorexia, @PHENOTYPICFEATURE$, described collectively as the cancer-associated dyspepsia syndrome (@DISEASE$).	has_symptom
+bb2fd6dd85f64d11cfe7929ffac93bc6733666cc	Chemotherapy treatment may lead to delayed gastric emptying, early satiety, anorexia, @PHENOTYPICFEATURE$, described collectively as the cancer-associated dyspepsia syndrome (@DISEASE$).	has_symptom
+f8d1c4b078254d2534e2ea5711cf0bfd530ebea8	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, @PHENOTYPICFEATURE$, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	has_symptom
+ee27fef52fe3e56111a3e7d34ae1e3a9009b0361	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+446ba3956eeab972756df1db1e62a1b675d5a049	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of @DISEASE$ and poor survival (Auerbach, 1997).	false
+fa2c6f0e4a5c5c9292f60ecccbee10e315b81856	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, @DISEASE$, @PHENOTYPICFEATURE$, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+687aad1cde0c503e1e6d9db8976efb469fa09434	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, @PHENOTYPICFEATURE$, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+a1dfa0d7c534193c1b993a176232962cc9bf37b9	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, @PHENOTYPICFEATURE$, cafe-au-lait spots, early onset of @DISEASE$ and poor survival (Auerbach, 1997).	false
+f0b9217c5f0b41830bc9fa555fd08af94a7a210a	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major @DISEASE$, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+6528c06e418f4240750ef432f2337ce552aa1b05	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major @DISEASE$, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, @PHENOTYPICFEATURE$, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+eb1f238386bfeaf04cd886243cdcbca5aebcf882	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, @DISEASE$, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+4cc1b372974c948b6aebd7e7df1d33a8affebef4	Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked @PHENOTYPICFEATURE$, @DISEASE$, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate.	has_symptom
+c4b8085aa86e5a11b273a5b277783d5b4711d776	Three of them-T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked @PHENOTYPICFEATURE$, @DISEASE$, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP.	has_symptom
+4a7773bb77b5bba641166d41e02140ad1a04b2be	These findings prompt us to consider @PHENOTYPICFEATURE$ and oro-facial abnormalities as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling "@DISEASE$" (CHHS).	has_symptom
+16ed9660036323d62652305a0fec03d886c1b3be	These findings prompt us to consider skeletal dysplasia and oro-@PHENOTYPICFEATURE$ as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling "@DISEASE$" (CHHS).	false
+2183493e42137aece605313689503864e1b2ae00	These findings prompt us to consider @DISEASE$ and oro-@PHENOTYPICFEATURE$ as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling "congenital hypothalamic hamartoma syndrome" (CHHS).	false
+a952bd40fa1403d8d1117984ec64e1324783ac61	As far as we know, the association between isolated @PHENOTYPICFEATURE$ and congenital @DISEASE$ has not yet been documented in the literature.	has_symptom
+67b3d7fcca6e2876c4b32b7341a45015bbf47760	Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (@DISEASE$), @PHENOTYPICFEATURE$ and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2).	has_symptom
+c3e5b5b9738fffc437e9265e9c849f141c2d66d9	Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: @DISEASE$ (NICCD), @PHENOTYPICFEATURE$ and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2).	has_symptom
+a318fbd27f905400a02cf33dab5f1849b82fa411	Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: @DISEASE$ (NICCD) in newborns, @PHENOTYPICFEATURE$ and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2) in adults.	has_symptom
+b78681d3fa04dee25fa4084a85cf44cf5b409907	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, @PHENOTYPICFEATURE$, and blindness.	has_symptom
+53d5862d2322240d54bf3583cfb4e53a9f01561d	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, @PHENOTYPICFEATURE$, mental deterioration, and blindness.	false
+28752ffc3facf13cbd80c5643ba2074eddddef64	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and @PHENOTYPICFEATURE$.	false
+35fa225b1421d772cb82e24d6777a95d4b2aae29	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, dystonia, spasticity, @DISEASE$, and blindness.	false
+cb4a5fd1bb1acb37f5b3b3f5e2a9d59cf7c15d4f	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, @PHENOTYPICFEATURE$, @DISEASE$, and blindness.	false
+2099de1aa222370ac2a2028685d5b9f60da1b2af	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+42156d30ce940f9d6cb5edf805b881d4d8f4aea8	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, @DISEASE$, spasticity, mental deterioration, and blindness.	false
+831526802d049301637d53bf0a06d96fbd0449d4	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, @DISEASE$, spasticity, mental deterioration, and @PHENOTYPICFEATURE$.	false
+97c8695f242109f45a185f0e1af38db19678d407	Mohr-Tranebjaerg syndrome (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, @DISEASE$, @PHENOTYPICFEATURE$, mental deterioration, and blindness.	false
+dc45e287955ce540f39c13999a55eb927ca7e960	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, dystonia, spasticity, mental deterioration, and blindness.	false
+1b1fb2fd865ac5d372721c1fdc69b3fef572ddab	@DISEASE$ (FHM-1) is an autosomal dominant form of migraine with aura characterized by recurrent migraine, hemiparesis and @PHENOTYPICFEATURE$.	has_symptom
+6eced7c2645b46bf6f69e08f9868ee85084641f7	Fifty percent of the patients were cleared of their P. falciparum parasitaemia by 72 hours, and all by Day 7. Presenting symptoms of fever, chills, @PHENOTYPICFEATURE$ cleared rapidly, all by Day 3, but resolution of haematological and biochemical abnormalities associated with @DISEASE$ was generally slow, a feature seen in malaria post-treatment.	has_symptom
+93382fc2df8cc02aea41c35517ffbd4f8f90f9ff	Fifty percent of the patients were cleared of their P. falciparum parasitaemia by 72 hours, and all by Day 7. Presenting symptoms of fever, chills, @PHENOTYPICFEATURE$ cleared rapidly, all by Day 3, but resolution of haematological and biochemical abnormalities associated with malaria was generally slow, a feature seen in @DISEASE$ post-treatment.	has_symptom
+d05e6224421149dc699b2fc9e1c797a9d905af85	Typical @DISEASE$ symptoms include fever, chills, fatigue, headache, @PHENOTYPICFEATURE$.	has_symptom
+16cdb0a8d9a65bf6f831bae257d7cfd7610b9a37	Both patients with @DISEASE$ showed typical craniofacial dysmorphism, @PHENOTYPICFEATURE$, and short stature.	has_symptom
+7f78b8ffb1e8289917d3d4835d3570b0766f81b1	Both patients with @DISEASE$ showed typical craniofacial dysmorphism, macrocephaly, and @PHENOTYPICFEATURE$.	false
+ec3b05dd74963a0103c879c0492ef6e5fd2f089b	Both patients with Noonan syndrome showed typical craniofacial dysmorphism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1361ea403f75d916dbfaf4c8eccb8873b3409736	The first one has @DISEASE$ habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, @PHENOTYPICFEATURE$, keratosis pilaris, and hypertrophic cardiomyopathy.	has_symptom
+ce16b2418ada928d275eb9baf2bedede07d03032	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (@DISEASE$); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	has_symptom
+2af7bbc62a173ef2077518ae16571e318cdcb878	These include ataxia telangiectasia (A-T); @DISEASE$ (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	has_symptom
+1edaba96d67f1632a202297ddc608e6f69de47d9	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @DISEASE$ @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+7b0146a15f4d5edf75d1116771000d9005a5ad5a	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and @DISEASE$ (AOA2).	false
+be66a92b42de893b8151b8d9c8e3614f64a78286	These include ataxia telangiectasia (A-T); @DISEASE$ (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+d8014e62893afb3bb599747e88e6d62286f68931	These include @DISEASE$ (A-T); ataxia telangiectasia like disorder (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+157a374a73fd8b6220c4687aa9c362a8aca57d45	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (@DISEASE$); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+72fd8ba00a3285a11e24193a9ff08739e328c355	Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and an @PHENOTYPICFEATURE$-like disorder (@DISEASE$), are chromosome instability disorders that are defective in the ataxia telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively.	has_symptom
+ad82d57e599335b336436d745355cfce4e730d98	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, ataxia telangiectasia and @DISEASE$, including microcephaly, growth retardation, cerebellar defects and @PHENOTYPICFEATURE$.	has_symptom
+72498923fda76ad70ee1b806d031db3eac3871b5	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, ataxia telangiectasia and ATLD, including @PHENOTYPICFEATURE$, growth retardation, cerebellar defects and @DISEASE$.	false
+304512ed10001bf8297fe3e2d1bd8ab5bf4840a2	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of @DISEASE$, ataxia telangiectasia and ATLD, including microcephaly, @PHENOTYPICFEATURE$, cerebellar defects and ataxia.	false
+7cab711f816cb61e4aec0ab4dfd30f0597745db3	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of @DISEASE$, ataxia telangiectasia and ATLD, including @PHENOTYPICFEATURE$, growth retardation, cerebellar defects and ataxia.	false
+f1c9b5ce76f974d1f66f4380e8fafde891a458fd	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, ataxia telangiectasia and ATLD, including microcephaly, @PHENOTYPICFEATURE$, cerebellar defects and @DISEASE$.	false
+615e94a53ed0eae00f70090ad92036a3431169bb	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, @DISEASE$ and ATLD, including microcephaly, @PHENOTYPICFEATURE$, cerebellar defects and ataxia.	false
+533f722b8212a91d55541837d280f7390c3ba931	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, ataxia telangiectasia and @DISEASE$, including microcephaly, @PHENOTYPICFEATURE$, cerebellar defects and ataxia.	false
+4f8cd22980ffeaca73f750846e3ad561b7f3665f	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, ataxia telangiectasia and @DISEASE$, including @PHENOTYPICFEATURE$, growth retardation, cerebellar defects and ataxia.	false
+d6811c55f30f101a91fd4ae27bd5750ed38c5080	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, @DISEASE$ and ATLD, including @PHENOTYPICFEATURE$, growth retardation, cerebellar defects and ataxia.	false
+ba343ba73421b33df1b0de75c8faf707eb39b724	@DISEASE$ should be considered in patients with ocular apraxia and @PHENOTYPICFEATURE$ in infancy.	has_symptom
+07c6273ec38bcf5c9918bf6ac8bd56384695fadb	ATLD should be considered in patients with ocular @PHENOTYPICFEATURE$ and @DISEASE$ in infancy.	false
+e809ea7f6b8e281131f9f37fce0a9b713346ebc1	@DISEASE$ should be considered in patients with ocular @PHENOTYPICFEATURE$ and ataxia in infancy.	false
+4b3ba0a32d004f5e1c84de1dd637e098c42f1c78	These include @PHENOTYPICFEATURE$ with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (@DISEASE$).	has_symptom
+cb90a04f775f6ec8ededcc38b769cec58b1ee55a	I will consider the mechanisms underlying the neurological abnormalities observed in patients with four of these diseases: xeroderma pigmentosum (XP), Cockayne's syndrome (CS), @PHENOTYPICFEATURE$ telangectasia (AT) and AT-like disorder (@DISEASE$).	has_symptom
+9e01df4fe47e01f7505c91af54333c3b132eff66	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and @DISEASE$ (ATLD) show overlapping phenotypes such as growth retardation, microcephaly, cerebellar developmental defects and @PHENOTYPICFEATURE$.	has_symptom
+c59c4a9dfd952df07b3eeec1c3f501c5a1abb6de	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (@DISEASE$) show overlapping phenotypes such as growth retardation, microcephaly, cerebellar developmental defects and @PHENOTYPICFEATURE$.	has_symptom
+3778c8901b99a8958a1ac62ce4b7535e6b6da5e0	Nijmegen breakage syndrome (@DISEASE$), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and ataxia.	false
+0fdcef68ef4c462be63df5b41f7aa6e66f6378eb	@DISEASE$ (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+03dc029cbd345d6b7f314806762f76e4a77744b1	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and @DISEASE$ (ATLD) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and ataxia.	false
+d015cb28e4828b7b60cccb86ee2326bdb71b3cf2	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (@DISEASE$) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+8a07627291dd75cad7e57a144c5a545fd9e93660	Nijmegen breakage syndrome (@DISEASE$), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+bef9d89827e965d5a34080fac6735f39e14e3a43	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and @DISEASE$.	false
+1839888d1cff81065669a475b83a330885cdbaf7	Nijmegen breakage syndrome (NBS), @DISEASE$ and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and ataxia.	false
+04a0059d89593a99907df28b8f590ba0882453ea	Nijmegen breakage syndrome (NBS), @DISEASE$ and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+8f52a2cea718ee1739c7961a7ead275aa4fc570b	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and @DISEASE$ (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+2ccdb8bfbd3751b1dae90b2319ef451f4e551b5a	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (@DISEASE$) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and ataxia.	false
+3da3a2a9ecee6dc8807dc2f5f21c566eae4346a9	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and @DISEASE$.	false
+fa37e8fbea6123421603513df71cee1340f7598d	@DISEASE$ (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and ataxia.	false
+56f729d4f88d68ff4a2cea056c19205a0c7c31c8	In conclusion, when assessing patients with @PHENOTYPICFEATURE$ of unknown cause, @DISEASE$ should be considered, and the gonadal state and peripheral blood smear samples evaluated.	has_symptom
+f8fb8e0582d7c10b6572627d94920e6e52819e80	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and @DISEASE$, and @PHENOTYPICFEATURE$ with oculomotor apraxia type I and II.	has_symptom
+824d4dfa79587c1339f8d5387ced6604de9ac291	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ type I and II.	false
+222e09f3b1f21f8ae2835321afbfb7f85c4e07a7	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: @DISEASE$ and ataxia telangiectasia-like disorder, and ataxia with @PHENOTYPICFEATURE$ type I and II.	false
+224a5e4bccb42e7b34fc2cc8dc42267a050547be	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and @DISEASE$ with @PHENOTYPICFEATURE$ type I and II.	false
+69a1ef2cc7c476623dffd8ab143f65f8569bf40a	Ataxia-telangiectasia-like disorder (@DISEASE$) is caused by mutations of the MRE11 gene and is characterized by @PHENOTYPICFEATURE$, increased frequency of chromosomal translocations and hypersensitivity to ionizing radiation.	has_symptom
+a5c9fba9ddbb92d71663995c03d386c5890fbb93	@DISEASE$ (ATLD) is caused by mutations of the MRE11 gene and is characterized by @PHENOTYPICFEATURE$, increased frequency of chromosomal translocations and hypersensitivity to ionizing radiation.	has_symptom
+2b0b9d72706d400a863e0e0700dad3552ec36f00	(Potentially) pathogenic variants were identified in genes associated with midline brain anomalies, including holoprosencephaly, @DISEASE$, and @PHENOTYPICFEATURE$ and in genes involved in ciliopathies.	has_symptom
+2825055d6541ed662c604b34bdc3d93678ac104c	One hundred twenty patients (18.2%) had treatment-modifying toxicities, of which the most common were lipodystrophy, @PHENOTYPICFEATURE$, neutropenia, and @DISEASE$.	has_symptom
+78cb03fff6deda9dd58351d10031085def11735b	@DISEASE$ is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as Albright's hereditary osteodystrophy) that include @PHENOTYPICFEATURE$, short digits, and heterotopic calcifications.	has_symptom
+e5ef51b5710b1d781f8acb881428a96b060fdcce	@DISEASE$ is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and @PHENOTYPICFEATURE$ (referred to as Albright's hereditary osteodystrophy) that include short stature, short digits, and heterotopic calcifications.	false
+fe23d2c821c03cac7f036f2ffd9b01d6290f6db6	Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as Albright's hereditary osteodystrophy) that include @DISEASE$, @PHENOTYPICFEATURE$, and heterotopic calcifications.	false
+2776f5822dfbdae5ebab7c0c26c493ffbdd69078	Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and @PHENOTYPICFEATURE$ (referred to as Albright's hereditary osteodystrophy) that include @DISEASE$, short digits, and heterotopic calcifications.	false
+62e1058c15ead8f085dcc92ae202b3016ca877f1	@DISEASE$ is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as Albright's hereditary osteodystrophy) that include short stature, @PHENOTYPICFEATURE$, and heterotopic calcifications.	false
+5da6687ae82a037659b532767eba6d35d04903a8	Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as @DISEASE$) that include short stature, @PHENOTYPICFEATURE$, and heterotopic calcifications.	false
+233fceea6dfc7eb5832a0ea993f918408f3bb43a	Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and @PHENOTYPICFEATURE$ (referred to as @DISEASE$) that include short stature, short digits, and heterotopic calcifications.	false
+b69d6822916ec56cb1f6cf49d61f98fdb2418d0a	Levetiracetam has been associated with improved language function in @DISEASE$ and @PHENOTYPICFEATURE$ reduction in BRE.	has_symptom
+65401adb40ae1c9f3a2df22d0c88366e2c1cdd92	@DISEASE$ (LKS) is a rare childhood disorder characterized by acquired aphasia with @PHENOTYPICFEATURE$ and electroencephalogram (EEG) abnormalities.	has_symptom
+2b1591e16c6190aa805c73cb5226b285d9017124	Landau-Kleffner syndrome (@DISEASE$) is a rare childhood disorder characterized by acquired aphasia with @PHENOTYPICFEATURE$ and electroencephalogram (EEG) abnormalities.	has_symptom
+f9d85466f9e2567d57f9b672156e6f1f03c0244a	@DISEASE$ (LKS) is an acquired childhood aphasia associated with paroxysmal bitemporal electroencephalogram (EEG) abnormalities and, sometimes, clinical @PHENOTYPICFEATURE$.	has_symptom
+fa47338bf27cc2cd603c03b5734c5314af723130	Landau-Kleffner syndrome (@DISEASE$) is an acquired childhood aphasia associated with paroxysmal bitemporal electroencephalogram (EEG) abnormalities and, sometimes, clinical @PHENOTYPICFEATURE$.	has_symptom
+8c8fa8006645566755532f53ab334efb49926efd	[The @PHENOTYPICFEATURE$ syndrome combined with sensorimotor aphasia and alalia (the @DISEASE$)].	has_symptom
+6dfd010bf3e487d163112c5ecad171b082359425	@DISEASE$ is characterized by long-lasting acquired aphasia associated with @PHENOTYPICFEATURE$ and EEG abnormalities.	has_symptom
+9d54174b2120971df35292154c0d0ceee71ac160	The medical management of @DISEASE$ is usually effective for seizure control and eventual @PHENOTYPICFEATURE$ remission.	has_symptom
+f2056e3d29d4f37033651f9fd164f6129061d55f	The medical management of @DISEASE$ is usually effective for @PHENOTYPICFEATURE$ control and eventual seizure remission.	has_symptom
+7af431046386fefe1c6ca3138f7c29b332d9f008	The combination of aphasia and @PHENOTYPICFEATURE$ is characteristic for @DISEASE$ and childhood disintegrative disorder.	has_symptom
+1e95937e7e2e9bbffea3d17f1d24b14ccf65b421	Benign rolandic epilepsy (BRE) and Landau-Kleffner syndrome (@DISEASE$) are similar epilepsy syndromes with sleep-accentuated epileptiform activity, sporadic @PHENOTYPICFEATURE$, and language dysfunction.	has_symptom
+1e31754ec2d2e48885a7a570462a3b70ca3769fc	Benign rolandic epilepsy (BRE) and @DISEASE$ (LKS) are similar epilepsy syndromes with sleep-accentuated epileptiform activity, sporadic @PHENOTYPICFEATURE$, and language dysfunction.	has_symptom
+d01be908937a3d2174c0527899003335a4b13992	@DISEASE$ is a rare childhood disorder which involves @PHENOTYPICFEATURE$ and acquired aphasia.	has_symptom
+3d2ff5ff544b1d76028f394aedf0cb3607062147	Five of these had only speech problems and @PHENOTYPICFEATURE$ (@DISEASE$) (group 1).	has_symptom
+f86ff52bf4b2f4d6fcf8c9514032c464314749f5	@DISEASE$ (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, @PHENOTYPICFEATURE$, hypoproteinemia and so on.	has_symptom
+29a1990c7becd6c8d263493f228526146f4039c1	@DISEASE$ patients have jaundice, hypoproteinemia, hypoglycemia, galactosemia, @PHENOTYPICFEATURE$, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	has_symptom
+6324d63e4254544cfba81ab7a04a74a1e06045cb	NICCD patients have jaundice, hypoproteinemia, @PHENOTYPICFEATURE$, @DISEASE$, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	false
+368f72ae883d22163476e3bdbc119607874c2f46	@DISEASE$ patients have jaundice, hypoproteinemia, @PHENOTYPICFEATURE$, galactosemia, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	false
+14409f863ef92072aaf939ad14db6e8d204c9aa3	NICCD patients have jaundice, hypoproteinemia, @PHENOTYPICFEATURE$, galactosemia, @DISEASE$, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	false
+f1e514f6c22cc165611d5b67c5a2344fdb0558fc	A 2-year-old boy with @PHENOTYPICFEATURE$, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild @DISEASE$ (MPS II).	has_symptom
+51449dc0101fb38ca7a8d2dec0eaad74a92b9c34	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @PHENOTYPICFEATURE$, bone dysplasia, short stature, sleep apnea, and behavior problems.	has_symptom
+3df12a6d0667b8af4dca9cd49a4c91c92bb903c0	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @DISEASE$, bone dysplasia, short stature, @PHENOTYPICFEATURE$, and behavior problems.	false
+bdaccdc652782f6b41633a07cdcdf71867b6e180	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @DISEASE$, bone dysplasia, @PHENOTYPICFEATURE$, sleep apnea, and behavior problems.	false
+17b2744fcd6d024fe8352730d09284908dd9bc36	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, @DISEASE$, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+adeff6facf04c90e75646f9937c42a3456b7f007	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, @PHENOTYPICFEATURE$, sleep apnea, and behavior problems.	false
+aecda5ab3398bac3eb1cc19ef1ec4edd62c4cb19	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, @PHENOTYPICFEATURE$, and behavior problems.	false
+498412db0786365dff13d7de56269edd5f6ce209	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, @DISEASE$, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+3ec3bd4bb6a8309299c06de7f28d03b36c50f5a9	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+2c8f244b607390c3c2846cbe8dd5289c92d2fb58	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+c8277815a03cfe214b814a04b34cfc3569ed87a3	@DISEASE$ presenting as @PHENOTYPICFEATURE$ and hydrocephalus.	has_symptom
+9523e91f00019f75f6e8226f12194f7e48aa447e	@DISEASE$ presenting as macrocephaly and @PHENOTYPICFEATURE$.	false
+b67aad63bc06b1574f9ec2989d134c15243bce88	Hunter syndrome presenting as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+45f484f56bde8d22f83464cd6d8c3ed7949bbe63	We report two siblings with @DISEASE$ and end-stage renal disease who developed encephalopathy and @PHENOTYPICFEATURE$ from muromonab-CD3 following renal transplant.	has_symptom
+7dd2788503e14fa131f15b8e34e1be19aad833d3	We report two siblings with oligomeganephronia and @DISEASE$ who developed @PHENOTYPICFEATURE$ and seizures from muromonab-CD3 following renal transplant.	false
+e3d859dc2b8d41e669dab111d2d5042a6ac5b06b	We report two siblings with @DISEASE$ and end-stage renal disease who developed @PHENOTYPICFEATURE$ and seizures from muromonab-CD3 following renal transplant.	false
+5b991400194ea42b19181355a84b2057a2999c90	We report two siblings with oligomeganephronia and end-stage renal disease who developed @PHENOTYPICFEATURE$ and @DISEASE$ from muromonab-CD3 following renal transplant.	false
+b65d54061a54e0e23bb025091aa273c100ac2a16	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	has_symptom
+9380b9aa35753003fc5327fc98202ebbdf02e53e	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+83306c3f48dd64c7dd27fc394482045de6c90c0c	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @DISEASE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+850c5b851fef6622e583daa0e9ff2f6b795fb120	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+7e537f870726a9a54fd5344456d5675bcd5ed45e	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+fd512e929387f192cedd4bc78294d8d338480d16	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, @DISEASE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+94520b6a0e89cc3943e772ae41567c559f248499	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+6c05c53d7ba6894d91129e5c5c1c487b301afbc4	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+1f2d2fe921eb3975b2e2b06d6d0c2a7ae39bc608	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, @DISEASE$, small nose and full cheeks).	false
+a4c8e386a2ced926aea8e20d2bd11bb065fc0d00	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+d15b638f46dec9c9e4f36bea7501bc8d377d07a1	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+161fec48959002641d9a56bfa15f4a3cad8a1f21	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+88ccbe8fd32201b70baa5968cf592a444a9d738a	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @DISEASE$/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+2aa5ea6ed7f58223f26fd8f9a3baf100f0873f4d	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+e932b64a1bece032d4b342400228edb2bac84221	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+df1963c7347cac70819d97254b27486afd979b63	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+3e968b0821e521639ff6974b2080e8e6387081a6	We report the first case of @DISEASE$ with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with @PHENOTYPICFEATURE$, global neurodevelopmental regression, and lactic acidosis.	has_symptom
+d3607eaa9c2c98f618fc5683fc8de42534f3e6b1	We performed a sural nerve biopsy in a patient with cerebrotendinous xanthomatosis (@DISEASE$) because of electrophysiologic evidence of @PHENOTYPICFEATURE$.	has_symptom
+5f6d2d46a81a0074bb3500c8b67ae14ad59c19aa	We performed a sural nerve biopsy in a patient with @DISEASE$ (CTX) because of electrophysiologic evidence of @PHENOTYPICFEATURE$.	has_symptom
+e5c2d7ef9de89d569f608b77ad50415d421c1368	[@PHENOTYPICFEATURE$ in a sporadic case of @DISEASE$].	has_symptom
+74c9f80f247a75fef9cd5765004c33690a742c32	Evoked potentials are reported in 10 patients with @DISEASE$, eight of whom had @PHENOTYPICFEATURE$.	has_symptom
+b1c457830bbd2e5381ed93e3fcd28ff5e8d7771d	We studied the peripheral nervous system, myopathology, and autonomic system of four CTX patients and performed a literature review of the reported @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+d7bf35a0f57183d401a5fa9befb570f38a655cd6	We studied the peripheral nervous system, myopathology, and autonomic system of four @DISEASE$ patients and performed a literature review of the reported CTX patients with @PHENOTYPICFEATURE$.	has_symptom
+f58944df6c323dc7a2ed08e98d363096939cd03c	The literature review of @PHENOTYPICFEATURE$ in @DISEASE$ revealed different types of peripheral neuropathy, of which axonal peripheral neuropathy was the most common.	has_symptom
+3b9b1d351fde9c47bbc13b6469b69be1a43b0f38	The literature review of peripheral neuropathy in @DISEASE$ revealed different types of @PHENOTYPICFEATURE$, of which axonal peripheral neuropathy was the most common.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+34077fea7f08a95ca93cdd2da9c98e5b780dbc9e	The clinical characteristics, study methods and results of 13 studies of @PHENOTYPICFEATURE$ in @DISEASE$ patients in the literature were also recorded for analysis.	has_symptom
+d4f643b90b27412615a49188c69b36589dc939cc	The authors report the case of a 22-year old man presenting with @DISEASE$ who developed @PHENOTYPICFEATURE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8ce5f2950738b41ad5874547202e30b8e4277735	@PHENOTYPICFEATURE$, especially the subtype of axonal sensori-motor neuropathy, is common in patients with @DISEASE$.	has_symptom
+589389c28177f4802c3bf2c4a12864918f71e6fa	An 18-year-old mentally and physically retarded boy, suffering from episodes of anorexia, @PHENOTYPICFEATURE$, coma and convulsion which have been severer with advance in age, had periodic hyperammonemia, @DISEASE$ and homocitrullinuria.	has_symptom
+f2b7a84269adf4cc5020c74c46e8d10e0eb6aa20	@DISEASE$, which is characterized by pancreatic fatty degeneration, skeletal @PHENOTYPICFEATURE$, and hematological dysfunction, is a congenital disease caused by SBDS gene mutations.	has_symptom
+6086872d3b7a4094413c6e949a331aa17670150b	The @DISEASE$ comprises exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$, and bone marrow hypoplasia resulting in neutropenia.	has_symptom
+787edda537a7e1e01d944003c81faa1f03e26205	The @PHENOTYPICFEATURE$, compensated exocrine pancreatic insufficiency and peripheral dysostoses established the diagnosis of @DISEASE$, although there was no neutropenia.	has_symptom
+85ba8a855575700d3fc3aa18005c89a98d6515bb	[Exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and @PHENOTYPICFEATURE$ (@DISEASE$) with transient disturbances of carbohydrate metabolism].	has_symptom
+18118b1139c7406dca8a1dd3aa6fcc345d7741b5	@DISEASE$ is a rare congenital disorder characterized by pancreatic insufficiency, metaphyseal anomalies, recurrent infections, hematologic abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+4102af466b3c6efbfb02b2bd4bd982cc12cc74a0	Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, @PHENOTYPICFEATURE$, and metaphyseal dysplasia (@DISEASE$).	has_symptom
+d90851db4246df73ea960c08bae2338f9cf9259a	Ichthyosis, @DISEASE$, impaired neutrophil chemotaxis, growth retardation, and @PHENOTYPICFEATURE$ (Shwachman syndrome).	false
+82dd84cfef38728518d525f332178c806f77a5bc	Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+e23979645e4cd8fff27ef70a0cfd90c2d6b3cc06	Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, @DISEASE$, and @PHENOTYPICFEATURE$ (Shwachman syndrome).	false
+ac64cfd9d6191b55b99d6dcb755a4b3ffca8b660	@DISEASE$ (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$, and bone marrow dysfunction.	has_symptom
+f7a01e05586bedf0c752cc90dccf088e89796b18	@DISEASE$ (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and @PHENOTYPICFEATURE$, is caused by mutations in the highly conserved SBDS gene.	has_symptom
+c6e62b8bbe6ee4930d46ae565c849b3c5880536f	Shwachman-Diamond syndrome (SDS), a recessive @DISEASE$ predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ and poor growth, is caused by mutations in the highly conserved SBDS gene.	false
+ed2a1182a94824154f6199e40e1a7c8825aa0c00	Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, @DISEASE$, @PHENOTYPICFEATURE$ and poor growth, is caused by mutations in the highly conserved SBDS gene.	false
+2717b83fd834800c87091dd943d2082b1cfafee2	Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ and @DISEASE$, is caused by mutations in the highly conserved SBDS gene.	false
+aaa625e64f931dc4414dbad41509ac259f1b1e26	@DISEASE$ (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ and poor growth, is caused by mutations in the highly conserved SBDS gene.	false
+529f1244a4207323413e5465390baf4e8e09d772	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, @PHENOTYPICFEATURE$, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet.	has_symptom
+4bdddc64e89234e7cdd24049f43465018e064afd	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, @PHENOTYPICFEATURE$, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet.	false
+8d7354ae401a9064beb6cfc14315734421dd9d91	The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, @DISEASE$, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin @PHENOTYPICFEATURE$ of hands and feet.	false
+cd7a6c819f0020c9bbee2ffb9f3071e9d1497e17	The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, @PHENOTYPICFEATURE$, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, @DISEASE$, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet.	false
+baaac34167fe8bf847976fc1be65c830c772a132	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin @PHENOTYPICFEATURE$ of hands and feet.	false
+9a727afc8186ae27c6d3f2e621e53c6067a06667	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and @PHENOTYPICFEATURE$.	has_symptom
+378d9eb7c6233efbce1ae136c846dfa404b9796a	The most common features of SCS described in the literature are synostosis of the coronal suture, @PHENOTYPICFEATURE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and @DISEASE$.	false
+035b7516be24c86c9f71ec6f0a1528156f744b7d	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, @PHENOTYPICFEATURE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism.	false
+06dbe228aac796a930218f6b924f3db6ecf91814	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @PHENOTYPICFEATURE$, and ocular hypertelorism.	false
+fb9f9328cca492247d335365a7ff8eab10df22cf	The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b605a09cf8809ea0b8b24101161cb6b0309fff8c	SYNE1 related @DISEASE$ (ARCA1) is a late-onset @PHENOTYPICFEATURE$ with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada.	has_symptom
+1a0ea5dd412ba23b031d51c84e8d65bcc48fe0e3	@DISEASE$ (ARCA1), also known as recessive ataxia of Beauce, is an adult onset pure cerebellar ataxia that typically presents with @PHENOTYPICFEATURE$ and/or dysarthria.	has_symptom
+449b51e55a84fb2a2152ce24451688c1e2ab3638	@DISEASE$ (ARCA1), also known as recessive @PHENOTYPICFEATURE$ of Beauce, is an adult onset pure cerebellar ataxia that typically presents with cerebellar ataxia and/or dysarthria.	has_symptom
+0bd72686e0e20c3a7b2265699a776085d72a26fb	@DISEASE$ (ARCA1), also known as recessive ataxia of Beauce, is an adult onset pure @PHENOTYPICFEATURE$ that typically presents with cerebellar ataxia and/or dysarthria.	has_symptom
+745d148283d64c7fc9ff3f1e6d310b10db142cc0	The goal of this study was to explore the role of the cerebellum in cognition and affect in patients with @DISEASE$ (ARCA-1), a newly described inherited cerebellar disease characterised by middle-age onset of @PHENOTYPICFEATURE$ as well as pure, severe and diffuse cerebellar atrophy.	has_symptom
+15a999ef2aa37a2d0d39af0a6322387f95837ff7	Define the phenotype and genotype of a cluster of families with a relatively pure @PHENOTYPICFEATURE$ referred to as @DISEASE$ (ARCA-1).	has_symptom
+5c5a6bbfd29d3c1d868b26dab514031c76149106	Clinical findings led to the diagnosis of Branchio-oculo-@DISEASE$, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, @PHENOTYPICFEATURE$) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	has_symptom
+61f0f7f1dd50cc76b9a4743bfcd74a7e87eb025b	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (@PHENOTYPICFEATURE$, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and @DISEASE$ defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+179561e08fd1293af30d79cb48277ef2cb7b75eb	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (@PHENOTYPICFEATURE$ cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, @DISEASE$) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+cc6fe1b1f41fa3450345085b541dc2d196fe6a1f	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, @PHENOTYPICFEATURE$, ptosis) and facial defects (cleft lip and/or @DISEASE$, pseudocleft or abnormal philtrum).	false
+2ea07fe5bc6a187c36727c97d8efb5a55dfd597a	Clinical findings led to the diagnosis of Branchio-oculo-@DISEASE$, characterized by branchial defects (@PHENOTYPICFEATURE$ cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+a4d2fe0d4820b0ab27a8ac2afdfce7ba230e6cc5	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, @PHENOTYPICFEATURE$, ptosis) and facial defects (@DISEASE$ and/or palate, pseudocleft or abnormal philtrum).	false
+207962241ab8307c3fcbda6dc69ea0d74b832312	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (@PHENOTYPICFEATURE$ cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or @DISEASE$, pseudocleft or abnormal philtrum).	false
+0131e15dd2d4c9bfc12c7b96c627298a71e161e6	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (@PHENOTYPICFEATURE$ cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and @DISEASE$ defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+abb63d0a4e7b2cc03c3f91532627f354de25991e	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (@PHENOTYPICFEATURE$ cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (@DISEASE$ and/or palate, pseudocleft or abnormal philtrum).	false
+574a957efbf3fc9ad332b6bb77db917d4363a248	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (@PHENOTYPICFEATURE$, anophthalmia, lacrimal duct obstruction, coloboma, cataract, @DISEASE$) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+dc090280ea037f896db0e61e9d7e84cbb901acf6	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, @PHENOTYPICFEATURE$, @DISEASE$) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+897da5c30c6f7167e836d31e14796d90f7fa9a6d	Clinical findings led to the diagnosis of Branchio-oculo-@DISEASE$, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, @PHENOTYPICFEATURE$, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+d270f028bf57ab5727414673bf30a96a6a98c6b9	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (@PHENOTYPICFEATURE$, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or @DISEASE$, pseudocleft or abnormal philtrum).	false
+258e8dfa4eaee531c31f4d9d2a9a49a2af182246	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (@PHENOTYPICFEATURE$, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (@DISEASE$ and/or palate, pseudocleft or abnormal philtrum).	false
+317bc5562622a7dd4de86125d980456c4cd64304	Clinical findings led to the diagnosis of Branchio-oculo-@DISEASE$, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (@PHENOTYPICFEATURE$, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+ef2e77d6012efaad4533210c3230a17edc0ae778	Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, @PHENOTYPICFEATURE$, ptosis) and @DISEASE$ defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+331572d8ecca8dbd325d310197be9672a20ff109	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, @PHENOTYPICFEATURE$, alopecia, @DISEASE$, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	has_symptom
+93d3a0925764804847d5b42bfd7f9c7ba7d2597d	The clinical picture in the two patients described, characterized by @PHENOTYPICFEATURE$, dwarfism, microcephaly, alopecia, @DISEASE$, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+ab7758dcf8cf513c815d5e4c74127cf6f1b77d52	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, @DISEASE$, @PHENOTYPICFEATURE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+6441f9e0610c21aa8f7a2f6093640713eb05e328	The clinical picture in the two patients described, characterized by @PHENOTYPICFEATURE$, dwarfism, @DISEASE$, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+a099caee31605437c53bc0d3b71f3a301bfcdba4	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, @DISEASE$, alopecia, bullous dystrophy macular type, @PHENOTYPICFEATURE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+d9e3e91c9c80034457b51bf73ab2b349cff0fb12	X-linked mental retardation, @PHENOTYPICFEATURE$, and growth delay associated with hereditary @DISEASE$: report of a second family.	has_symptom
+486102a1bdc566b037bee0b6feeca9342c93fb3f	X-linked @PHENOTYPICFEATURE$, microcephaly, and growth delay associated with hereditary @DISEASE$: report of a second family.	false
+d4431307e8296ae6c2dd89dda74a61a93350d0f3	X-linked @PHENOTYPICFEATURE$, @DISEASE$, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.	false
+43782ee7a8fe363b3edb98aae7bbe7c1db7ca42f	The prevalence of @DISEASE$22q11-syndrome among babies with @PHENOTYPICFEATURE$ with or without additional malformations was 1 of 57 (1.8%).	has_symptom
+299399dd84368b147d130f2657b99dd20f69d689	@DISEASE$ was associated with @PHENOTYPICFEATURE$ development with a relative risk of 4.75 (95% confidence interval=1.2-18.5, p=0.006).	has_symptom
+b4a104fc2f52bfa2facefffb1b241e0bc30b28b4	To determine the frequency of hyperintense cortical signal (@DISEASE$) on T1-weighted precontrast magnetic resonance (MR) images in progressive multifocal leukoencephalopathy (PML) patients, its association with @PHENOTYPICFEATURE$ risk and immune reconstitution inflammatory syndrome (IRIS), and its pathologic correlate.	has_symptom
+075d5af82fd23b158a32ac31e5e328e68e718036	Mesial temporal lobectomy for the treatment of intractable temporal lobe @PHENOTYPICFEATURE$ may show dual pathologies for example hippocampal sclerosis (@DISEASE$) combined with a malformation.	has_symptom
+ea87b0bcdff56d77f57b6b7715cdcb09bbb29db6	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and IRIS, and correlates histologically with JCV focal leukocortical encephalitis.	has_symptom
+8088b61dc37ed6c136a449586882a44e3dff0db2	@DISEASE$ is more severe than NF1 caused by gene mutations, with individuals exhibiting @PHENOTYPICFEATURE$, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas.	has_symptom
+5f078fb28ff77e854d24e4241dea7f410a8a97f0	NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting @DISEASE$, developmental delay (DD), @PHENOTYPICFEATURE$ (ID), and excessive neurofibromas.	false
+ccacf5c3b6461506ca1d14f09b9dc1c8bc792a3c	@DISEASE$ is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), @PHENOTYPICFEATURE$ (ID), and excessive neurofibromas.	false
+e8bed44847a5b0ff8edb9e72557eba3aa1e03423	We present a patient with @PHENOTYPICFEATURE$ and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as @DISEASE$ (SDS), which was genetically confirmed.	has_symptom
+9f17a2c1e31cc5ea5cd36227ee46291280a64e31	@DISEASE$ is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$, and skeletal abnormalities.	has_symptom
+67c4dbf1f4270f57f69ec602a78d8b8f6753101b	Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+364ce9671054c7879996daaacb5b05b6d5a5ec31	@DISEASE$ is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and @PHENOTYPICFEATURE$.	false
+a274fad8d33db757bf9c45dd45347ce0278e62cb	Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, @DISEASE$, failure to thrive, and @PHENOTYPICFEATURE$.	false
+96ba6b662611af087ad843b37cbed0b1992fb9d8	Additional medical problems like @PHENOTYPICFEATURE$ or neutropenia should lead to further diagnostic procedures to exclude @DISEASE$.	has_symptom
+d5932e5d1afed38020cc92ad754038b624f5b90a	@DISEASE$ (PD) is a type of degenerative disorder of the basal ganglia, causing tremor at rest, @PHENOTYPICFEATURE$ hypokinesia, and dementia.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0633b3ed1d8fb33e59940c3bebb2f3a5919e5b7f	@DISEASE$ should be considered for children with recurrent skin @PHENOTYPICFEATURE$ and blisters.	has_symptom
+a8be292026f8e00e2cd2e4cf71b92a2862b26026	Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+bffbef1dafabe6f8aaa0ce5ee3d2ee6ab567d457	Bartter syndrome, Dent's disease, @DISEASE$ @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	has_symptom
+d9391587cf504a1c2dc283cf14479b17615d57da	Bartter syndrome, Dent's disease, @DISEASE$ hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+f88813c16a297e770f4702c789ce23847d3ccbed	Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic @DISEASE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+72eb2f5765d7fa6fea4bef79aa79e3fc7e0c092b	@DISEASE$, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+6fabe1f6b04b2269b69678c7971e806b34c0d9f2	Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with @DISEASE$, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+58874930fbf5f0ea89254084eb3fcdf9c676611f	Mutations in the Ca(2+)-sensing receptor result in hypercalcemic or hypocalcemic disorders, such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+4b80537936be80615ffd6aee59c7b710245c38c8	Activating mutations of this receptor cause @DISEASE$, a syndrome characterized by hypocalcemia and @PHENOTYPICFEATURE$.	has_symptom
+e3902feef7f6a148dc13c5037a085cad416f18d0	Activating mutations of this receptor cause @DISEASE$, a syndrome characterized by @PHENOTYPICFEATURE$ and hypercalciuria.	false
+3f7d2d2667ee4e16c88930fcac3f5f07b715fe2c	Activating mutations of this receptor cause autosomal dominant hypocalcemia, a syndrome characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+24aedcfbc5c1c67700b6a50da2a3f19b95fd2ba6	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, @DISEASE$ @PHENOTYPICFEATURE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	has_symptom
+94bb15fdd930900ac3377fd4e347b0eb81b3ec02	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic @DISEASE$ (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+0b44a32df426eb831f9c4ed987298d9bb3eecdd1	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with @DISEASE$, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+054731b08114c5d9774fa401385ee83cce44c7f8	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, @DISEASE$ hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+ba94ae19c07df3778c14d005e8e9c372f05263f6	Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, @DISEASE$, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial @PHENOTYPICFEATURE$ with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium.	false
+fe0b32d1096314e714185fe2f21bf782495924fc	Marked iron in liver explants in the absence of major @DISEASE$ gene defects: a risk factor for @PHENOTYPICFEATURE$.	has_symptom
+b89794b5d6bd2815bc2e0a22ef9c69354eb365cb	Chronic iron overload associated with @DISEASE$ or repeated red cell transfusions is known to cause @PHENOTYPICFEATURE$.	has_symptom
+596f5cc972478bf872202207749c506f41cf21ae	Mutations in TfR2 cause one form of @DISEASE$, a disease in which excessive absorption of dietary iron can lead to liver cirrhosis, diabetes, arthritis, and @PHENOTYPICFEATURE$.	has_symptom
+39ab679567954b9a22ca39deebe7554d5097f841	The case of a 43-year-old male is presented, with diagnosed diabetes mellitus,@PHENOTYPICFEATURE$, skin pigmentation, hepatic cirhosis, and @DISEASE$ confirmed by liver biopsy.	has_symptom
+246640207337166de18d7e24671705f3e23c8ba2	It is believed that @DISEASE$ (HH) might play a role in cardiac disease (@PHENOTYPICFEATURE$ (HF) and ischemia).	has_symptom
+57e0c96ec7a34fed8c96e5526d2f0754d199a317	Prevalent causes of death in @DISEASE$ are @PHENOTYPICFEATURE$, liver disease (cirrhosis and hepatocellular carcinoma) and portal hypertension.	has_symptom
+7e333e5d25df8f076bd9886e97eb3139f367fc50	In order to reveal changes in the myocardium at the preclinical stage of @PHENOTYPICFEATURE$, 34 patients with @DISEASE$ (HHC) underwent echocardiography in the M-mode.	has_symptom
+575487120fee9a83efb17732f8ac7b8b28b08b52	@PHENOTYPICFEATURE$ and malignant ventricular tachyarrhythmias due to @DISEASE$ with iron overload cardiomyopathy.	has_symptom
+13378d429f45bc2cc68a03ef766b61a2dbe58d9b	@DISEASE$ (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and @PHENOTYPICFEATURE$.	has_symptom
+9762ca94292cdd20008666568192c59048d4556d	@DISEASE$ is characterized by increased iron absorption in the gastrointestinal tract, which may cause lifelong excessive iron absorption and accumulation and serious health effects, including arthritis, cirrhosis, diabetes, impotence, @PHENOTYPICFEATURE$, and death.	has_symptom
+e79682e2106aa0e671e759eb973adbcf5ab79c3f	It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (@DISEASE$) or X-linked @PHENOTYPICFEATURE$ (XLH).	has_symptom
+4a06edeb6f70203240297240e56bb4ca2eb4214a	An abnormality could be found in electroencephalograms of a child with @DISEASE$ and 2 children with @PHENOTYPICFEATURE$.	has_symptom
+14e6dbf19636ed2644327034f0689fb10a3afb9f	Although @PHENOTYPICFEATURE$ was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of @DISEASE$.	has_symptom
+433e4f12806a52a37907811026ac25cb159bc763	Although hydrocephalus was rarely reported as an associated malformation, it was suggested that @PHENOTYPICFEATURE$ might be responsible for mental retardation in some cases of @DISEASE$.	has_symptom
+f51bd9ef169e874dcdbadde23980f23957e62094	Although hydrocephalus was rarely reported as an associated malformation, it was suggested that @DISEASE$ might be responsible for @PHENOTYPICFEATURE$ in some cases of Apert syndrome.	false
+b7ce235c07a48110b4c211a0fc6cbc22b136ec94	Although @DISEASE$ was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for @PHENOTYPICFEATURE$ in some cases of Apert syndrome.	false
+fd8bb4240f993ccb17473c808d5526eee3533024	Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for @PHENOTYPICFEATURE$ in some cases of @DISEASE$.	false
+4248c93a18af94ce7be1eb585745ba4bce3f524f	For patients who presented with @DISEASE$ we reviewed the computed tomography scans for baseline characteristics: the amount of cisternal blood, intraventricular or intracerebral hemorrhage, and @PHENOTYPICFEATURE$.	has_symptom
+028852def269ed6676066e691bed8f99d0c145d9	Studies of the central nervous system in @DISEASE$ indicate that distortion ventriculomegaly is common, but progressive @PHENOTYPICFEATURE$ occurs infrequently.	has_symptom
+176e2b5e012771ceb323809e12b029601ced31c2	Shunt-dependent @PHENOTYPICFEATURE$ is predominantly associated with Crouzon or Pfeiffer syndrome while in the @DISEASE$ the usual finding is nonprogressive ventriculomegaly which, however, may also occur in some cases of Crouzon syndrome.	has_symptom
+2a79237fa22370c3cabcc8622d6be9750a0414be	The common co-existence of @PHENOTYPICFEATURE$ and multiple premature sutural fusion in Pfeiffer syndrome is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and @DISEASE$.	has_symptom
+85caf8e3109f3dc0d2ad3e42d93d088b1a3b4c9a	A retrospective evaluation was carried out to define the incidence of @PHENOTYPICFEATURE$ and associated factors in 44 patients with @DISEASE$ treated at The Hospital for Sick Children in Toronto over a 22-year period.	has_symptom
+658ebf25e49718c41e5bdd50da423766bacacc61	We present a case of @DISEASE$ that shows bilateral periventricular cysts, unusual posterior downward curving of the lateral ventricles without evidence of @PHENOTYPICFEATURE$, along with a decreased anterior-posterior diameter of the cranial vault.	has_symptom
+c63bde4e7cf513bb0fc0138818f7a58d4525f503	The @DISEASE$ is an autosomal dominant disorder characterized by lacrimal malformations, simple cup-shaped ears, hearing loss, @PHENOTYPICFEATURE$ and enamel dysplasia, and upper limb malformations.	has_symptom
+c5478e8a5e388b18b83b7dbd961f719cacd66eb6	@DISEASE$ (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily @PHENOTYPICFEATURE$ with onset at the age of 3-7 months and with favorable outcome.	has_symptom
+62102a26a7371ca4b30a0a61ffcdb7846dbfe958	Benign familial infantile seizures (@DISEASE$) is a dominant idiopathic epilepsy with partial and secondarily @PHENOTYPICFEATURE$ with age of onsetr between 3 and 12 months.	has_symptom
+39b069dcd44abe371ed6f30742dcd3e9268e0d41	@DISEASE$ (BFIS) is a dominant idiopathic epilepsy with partial and secondarily @PHENOTYPICFEATURE$ with age of onsetr between 3 and 12 months.	has_symptom
+b91911c5cd2197ce44bcd9b93ead7f6b4356c583	Benign familial infantile convulsions (@DISEASE$) are an autosomal dominant form of idiopathic epilepsy in which partial and @PHENOTYPICFEATURE$ commence in the first 3 months of life and spontaneously remit by age 1 year.	has_symptom
+022d2af591c06b7ce5313b3394c90e0c3939fb40	@DISEASE$ (BFIC) are an autosomal dominant form of idiopathic epilepsy in which partial and @PHENOTYPICFEATURE$ commence in the first 3 months of life and spontaneously remit by age 1 year.	has_symptom
+1eb2ebeaebd258a9adad824deded7dcdd3df827d	@DISEASE$ (BFIE) is characterized by non-febrile focal seizures, which sometimes evolve to secondarily @PHENOTYPICFEATURE$ and are usually resolved in the second year.	has_symptom
+5d06a0492e4f198e0c782dc4f42ebf2e77e5a691	@DISEASE$ (HS) with and without woolly hair (WH) comprises a group of rare, monogenic disorders of @PHENOTYPICFEATURE$.	has_symptom
+f16da02b2c691c2daed6a12fd55551db61204cc8	Muscle @DISEASE$ syndrome is characterized by mild to severe @PHENOTYPICFEATURE$, lipid accumulation in muscle, and reduced muscle carnitine concentration.	has_symptom
+2224b499a1d8461fe80dad9b4ce5875adc84db9a	L-@DISEASE$ is commonly observed in chronic hemodialysis patients, and this depletion may cause clinical symptoms like @PHENOTYPICFEATURE$, anaemia, and hypotension.	has_symptom
+45892763db746a89bbc283dbda66e5315fc4e818	@DISEASE$ was suspected in study participants prior to data collection because of previously reported cardiac symptoms, @PHENOTYPICFEATURE$, hypometabolism and/or cachexia.	has_symptom
+911e2045a76e066096b7503fd0a4a7598db6b2c4	Carnitine deficiency was suspected in study participants prior to data collection because of previously reported cardiac symptoms, @DISEASE$, hypometabolism and/or @PHENOTYPICFEATURE$.	false
+362306322e6e5b43a0e2b5feb320568a7f6ac19a	@DISEASE$ was suspected in study participants prior to data collection because of previously reported cardiac symptoms, muscle weakness, hypometabolism and/or @PHENOTYPICFEATURE$.	false
+1e876257b677fe80405cd895b7680e86a75eeb5c	Despite early neurological reports of @PHENOTYPICFEATURE$ in @DISEASE$ (WS), a rare genetically based neurodevelopmental disorder, there has not yet been any systematic investigation of gait dysfunction in this disorder.	has_symptom
+5b252fae0f28561798a4f238bd593a114e2cb873	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	has_symptom
+8a728bbafe59c339cdd8b384ac693c7dca259974	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+3129c06a45b76ee28465626b0bddf08dd5ac7d70	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+5fe0a6659fd475adad2ed7101d8181b9cb07f42d	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+bcfb4a483b6346520559d8c7672ad9d3b26a4fde	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive @DISEASE$ are consistent with oral-facial-digital (OFD) type II syndrome.	false
+ae027c18e77cdda5e42f48e2d08087189716ee89	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive @DISEASE$ are consistent with oral-facial-digital (OFD) type II syndrome.	false
+7b7446de3d705d05ed6d7d73f984203d6d6831a6	Everolimus, an mTOR inhibitor approved for the treatment of @PHENOTYPICFEATURE$ associated with @DISEASE$, is an example of a medication targeting the etiological mechanisms of the disease.	has_symptom
+890cbb7cf3689350169e37f753fb53417b4c5980	The case involves a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$ and ophthalmoplegia, suggesting that these may be complications of EBS-MD.	has_symptom
+f17fba86a49130bbe8c7056164430b03cb48f882	A 63-year-old man presenting remittent fever and multiple @PHENOTYPICFEATURE$ was diagnosed as adult-onset Still's disease (@DISEASE$), and started with prednisolone treatment.	has_symptom
+7a6c18a3529371b80bcd5626238d2704b3ed7d9b	Adult-onset Still's disease (@DISEASE$) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, @PHENOTYPICFEATURE$ or arthritis, lymphadenopathy, hepatosplenomegaly, sore throat and serositis.	has_symptom
+083f2f1e169e1aa641625b869d0c1bd4e047bd41	Adult-onset Still's disease (AOSD) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, arthralgia or @PHENOTYPICFEATURE$, lymphadenopathy, hepatosplenomegaly, sore throat and @DISEASE$.	false
+748a2489d04caa59d5b18931546a73b62807da0a	Adult-onset Still's disease (@DISEASE$) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, arthralgia or @PHENOTYPICFEATURE$, lymphadenopathy, hepatosplenomegaly, sore throat and serositis.	false
+c504e3f94f96b769fcb22a7e708f9b12ed83ce05	Adult-onset Still's disease (AOSD) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, @DISEASE$ or @PHENOTYPICFEATURE$, lymphadenopathy, hepatosplenomegaly, sore throat and serositis.	false
+4de575d6569ee265428a517e2967bafa60f27cf6	The clinical symptoms of @DISEASE$ are a spiking fever, a typical rash, @PHENOTYPICFEATURE$ or arthritis, sore throat, lymphadenopathy, and splenomegaly.	has_symptom
+1276598839ebc691773b2060bb6e1afe4ef67db3	The clinical symptoms of @DISEASE$ are a spiking fever, a typical rash, arthralgia or @PHENOTYPICFEATURE$, sore throat, lymphadenopathy, and splenomegaly.	false
+b32029bfe140109e11bcf4be51a7939b733e443e	The clinical symptoms of AOSD are a spiking fever, a typical rash, @DISEASE$ or @PHENOTYPICFEATURE$, sore throat, lymphadenopathy, and splenomegaly.	false
+be71688003c11ca1c0c34a0a039751ff6af0343b	This patient was treated with prednisolone for @DISEASE$ and discharged after achieving complete remission of breathlessness, backache, thoracalgia, @PHENOTYPICFEATURE$, and spiking fever.	has_symptom
+c65f9f9dc656ce081e47b2d810b8c5b4cf9a3923	Adult-onset Still's disease (@DISEASE$) is a rare systemic inflammatory disorder of unknown etiology characterized by spiking fever, arthritis or @PHENOTYPICFEATURE$, rash, and leukocytosis.	has_symptom
+2ab85507aec37e17433d6efc6b4d0b41eb09fe41	Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology characterized by spiking fever, @PHENOTYPICFEATURE$ or @DISEASE$, rash, and leukocytosis.	false
+f00d229cd03d9cffdd60920145f503f305b4d601	Adult-onset Still's disease (@DISEASE$) is a rare systemic inflammatory disorder of unknown etiology characterized by spiking fever, @PHENOTYPICFEATURE$ or arthralgia, rash, and leukocytosis.	false
+fe1efbe2dca70e161b23d08bad4f06a306fe2646	Adult-onset Still's disease (AOSD) is a rare systemic @DISEASE$ of unknown etiology characterized by spiking fever, @PHENOTYPICFEATURE$ or arthralgia, rash, and leukocytosis.	false
+57ea0ad2ca0c26d563008d10ca60491fe5317822	Adult onset Still's disease (@DISEASE$) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, @PHENOTYPICFEATURE$ or arthritis, involvement of various organs, and predominantly neutrophilic leucocytosis.	has_symptom
+1fce74d1749a4afd48ef152d3daaebf9052ee6af	Adult onset Still's disease (AOSD) is a systemic @DISEASE$ of unknown etiology characterized by spiking fever, evanescent skin rash, arthralgia or @PHENOTYPICFEATURE$, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+f21e1fcb5b3e715e6fc6c49408ad5f0450a471b0	Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, @DISEASE$ or @PHENOTYPICFEATURE$, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+82c605f583eb12a7cf4236c15c9aa017c70ccca3	Adult onset Still's disease (@DISEASE$) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, arthralgia or @PHENOTYPICFEATURE$, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+50196218744f32bd6d99abc7c56b27e80babe8ff	Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent @DISEASE$, arthralgia or @PHENOTYPICFEATURE$, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+a4fd73c926a899016dc11e2c503c428ffa3a60d6	We report here a female patient with severe manifestations of @DISEASE$ including facial dysmorphism and bilateral @PHENOTYPICFEATURE$ associated with left renal pyelo-calicial dilatation and sexual ambiguity.	has_symptom
+cc856299ad3dc705a67ea64386fadd5defa15b3a	We report here a female patient with severe manifestations of Peters Plus syndrome including @PHENOTYPICFEATURE$ and bilateral @DISEASE$ associated with left renal pyelo-calicial dilatation and sexual ambiguity.	false
+ab7d3ffd22edea9d2fbf7ca2e8fe2ec22336f731	We report here a female patient with severe manifestations of @DISEASE$ including @PHENOTYPICFEATURE$ and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity.	false
+f8026e14dbc8f5c382c2b032d9e5918c23e41278	@DISEASE$ with unusual @PHENOTYPICFEATURE$.	has_symptom
+1b5ecf9b413901322241d1ee6b0c12f57b18a87d	@DISEASE$ and other syndromic craniofacial dysostoses are often characterized by @PHENOTYPICFEATURE$, with a negative canthal axis and counterrotated orbits.	has_symptom
+1bc5d14e1d9343835dd2bdb709cab69e8b0b071d	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, @PHENOTYPICFEATURE$, syndactyly, polydactyly, and cleft plate.	has_symptom
+b2c8e905cea662a7255099311a637cf1920a9309	A full-term female baby was diagnosed as having Apert syndrome with craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, and cleft plate.	false
+930c39a8c7723c4331bccf134734739f5ea49ed4	A full-term female baby was diagnosed as having Apert syndrome with craniosynostosis, @DISEASE$, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+a408e6d632a41a90b640e14d2dfbd94982f8b679	A full-term female baby was diagnosed as having Apert syndrome with @DISEASE$, hypertelorism, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+26770a1bacf472dee74070230b94784ec4f11f61	A full-term female baby was diagnosed as having Apert syndrome with @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, polydactyly, and cleft plate.	false
+c494f8aa7e3bce7287a800be7e735ba5eb0ed00c	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, hypertelorism, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+a7597bc75ce1d7a87d1e1e9d1ef260256d461240	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, hypertelorism, @PHENOTYPICFEATURE$, polydactyly, and cleft plate.	false
+12b3a137cca678b58b2c3500985c0ea104a6c16a	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	has_symptom
+fb574ea6d6858b0755a039752b2bf0f9471df052	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, @DISEASE$, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for Apert syndrome.	false
+b5e35785e12c5451802d390dcb55cfd3944ff7c1	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for @DISEASE$.	false
+6ad53dafe67baee4953740e23bcbbd6bdd6ff1f3	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @PHENOTYPICFEATURE$, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	false
+64a5580fd1670457a62b0b1027bdb4c4b6bb15cc	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @PHENOTYPICFEATURE$, suspicion of partial agenesis of the corpus callosum, @DISEASE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for Apert syndrome.	false
+7ff621429b8f592800152d79854544f590708d4a	Presently described is case of a 19-year-old female patient diagnosed on physical examination with @DISEASE$ based on acrocephaly, prominent forehead, @PHENOTYPICFEATURE$, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet.	has_symptom
+65abc4c3ad42f6cc86e9267e3c01644f1e738530	Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, @DISEASE$, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral @PHENOTYPICFEATURE$ of hands and feet.	false
+d19b9b96c4c18103a73a4923116ed8456dcd0a19	Presently described is case of a 19-year-old female patient diagnosed on physical examination with @DISEASE$ based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral @PHENOTYPICFEATURE$ of hands and feet.	false
+6fbfbe1ed93041085e1e0b7d760b56112937129e	Apert syndrome, or @DISEASE$, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, @PHENOTYPICFEATURE$, and symmetric syndactyly of the hands and feet.	has_symptom
+1afd920244435ea12bb721d682899d5ca6dc6d3c	@DISEASE$, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, @PHENOTYPICFEATURE$, and symmetric syndactyly of the hands and feet.	has_symptom
+bb066ece7dda340c3221b8febf4765983761b1a5	@DISEASE$, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric @PHENOTYPICFEATURE$ of the hands and feet.	false
+598a1ff44151b7a903ede44379b6ede443a53457	Apert syndrome, or @DISEASE$, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric @PHENOTYPICFEATURE$ of the hands and feet.	false
+846894634fe4232df33eeb5b033decbb828e297c	Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, @DISEASE$, and symmetric @PHENOTYPICFEATURE$ of the hands and feet.	false
+3099e813790b18403e0f8ffbed57ea781eda95d2	Apert syndrome, or acrocephalosyndactyly type I, is a @DISEASE$, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric @PHENOTYPICFEATURE$ of the hands and feet.	false
+6d2a419efdfe3794452ed140c808c0baf7ed0440	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face.	has_symptom
+219e0d50c0ce8f8ee7ca00ec0b67289525b8fb9c	Patients with @DISEASE$ show @PHENOTYPICFEATURE$ and midfacial hypoplasia, and their features are significantly improved through facial bipartition surgery.	has_symptom
+db32b75af6277ae54e65322607924f559fa77111	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, @PHENOTYPICFEATURE$, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	has_symptom
+e107a1d6574fe506c860ac804172cba5e5a242bc	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, @PHENOTYPICFEATURE$, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+6d08c8956f89b9f5ce39f9bfe84b86047d240a43	Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, @DISEASE$, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, @PHENOTYPICFEATURE$ and symmetrical syndactyly of the hands and feet-are present.	false
+01b1eb7610114f64817ec2f43b0a0959ac1420cc	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or @PHENOTYPICFEATURE$, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+cbbd284395033ffc253467ea9252281b382643c9	Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, @DISEASE$, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or @PHENOTYPICFEATURE$, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+aac948d6655b273373fab2ac375d6e8e5dfaf5d9	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, @PHENOTYPICFEATURE$ and symmetrical syndactyly of the hands and feet-are present.	false
+12b489443474a0fd33b0dcd19d3da8cd6ad1a13f	Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, @PHENOTYPICFEATURE$, @DISEASE$, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+af1b3d7e095f74df045bedb2d0c39e3470033ecd	The @DISEASE$ is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, @PHENOTYPICFEATURE$ and hypoplastic midface with Class III malocclusion, besides systemic alterations.	has_symptom
+6c946c870214d0875edc2a62ecf21b24fec24bc2	The @DISEASE$ is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe @PHENOTYPICFEATURE$, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations.	false
+3ba61c23d7599701cfa5aab634bffe35af7f9db9	The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe @PHENOTYPICFEATURE$, exophthalmia, @DISEASE$ and hypoplastic midface with Class III malocclusion, besides systemic alterations.	false
+b6ff06ba58d0d79cbdcfd7903d424a7876cfaec5	We report a case of an 11-year-old girl presenting with @DISEASE$ characterized by midface concavity, protrusion of the eyeballs, and @PHENOTYPICFEATURE$.	has_symptom
+dcf061e967a70eef3632e60f581a1f4269a24627	Myoclonus often occurs after the damage of locomotor system (including pyramidal tract, extracorticospinal tract and cerebellum) among @DISEASE$ patients, and it is related to extrapyramidal symptoms , @PHENOTYPICFEATURE$ and dyssomnia .	has_symptom
+20ee251fe88011609e584a568c5a6307a95daa3f	Clinical presentation of @DISEASE$ is characterized by progressive dementia, neurologic symptoms and @PHENOTYPICFEATURE$, development of akinetic mutism, and eventually death, usually from respiratory infection.	has_symptom
+2fc83e73ee95555cc17495c46c8245b978bfd310	In this review article, we discuss the paraneoplastic cutaneous manifestations strongly associated with @PHENOTYPICFEATURE$, which include acanthosis nigricans maligna, tripe palms, erythema gyratum repens, Bazex syndrome, @DISEASE$, necrolytic migratory erythema, Leser-Tr?lat sign and paraneoplastic pemphigus.	has_symptom
+3eee9c3bb25c3a5630d57e6bee30ffbc5dcfe2f6	These cases are rare, and @DISEASE$ can be a clinical @PHENOTYPICFEATURE$ marker.	has_symptom
+4946c5952a68dd12ad25cb68db3ccb73e2406e78	It is also unique in terms of the strictly parallel development of @DISEASE$ and the tumour, with complete disappearance of the hypertrichosis in the weeks following surgical removal of the @PHENOTYPICFEATURE$, and in terms of prolonged survival (complete remission 17 months after the onset of symptoms).	has_symptom
+9dc4f0b02f40fdf33b3a90fc0047b128d2599ccd	It is also unique in terms of the strictly parallel development of @DISEASE$ and the @PHENOTYPICFEATURE$, with complete disappearance of the hypertrichosis in the weeks following surgical removal of the tumour, and in terms of prolonged survival (complete remission 17 months after the onset of symptoms).	has_symptom
+7b944eee71ab6d01696f53c0b9b97b318ef6ab5e	@PHENOTYPICFEATURE$; Abdominal bloating; Loose stools; Hyponatraemia; @DISEASE$; Coeliac disease; Osteoporosis; Bisphosphonates; Osteonecrosis.	has_symptom
+75cfa15f026ed32d917e7c18a52f57f109d2c9ea	@DISEASE$ is a recently described @PHENOTYPICFEATURE$ disorder with complex vascular anomalies.	has_symptom
+bfa021421ca020a6693ccb8a06662b1001cefdb8	Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal Abnormalities (@DISEASE$) is a newly described and rare @PHENOTYPICFEATURE$ disorder with serious morbidity.	has_symptom
+72c50e76c1ea6a5b1af8736e8d48296af78adc3b	@DISEASE$ is a complex disorder of congenital lipomatous @PHENOTYPICFEATURE$, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies.	has_symptom
+7336e1fcdc53a023c627d7be8e83eca7af49a971	We report a neonate with prenatal ultrasound imaging features suggestive of @DISEASE$, confirmed postnatally by clinical and imaging findings of the constellation of truncal @PHENOTYPICFEATURE$, cutaneous capillary malformations, lymphatic and musculoskeletal anomalies.	has_symptom
+0e0e24a6e22821dcb294710b6f8d6bac1eadcba5	@DISEASE$ (congenital lipomatous @PHENOTYPICFEATURE$, vascular malformations, epidermal nevi, and skeletal/scoliosis and spinal abnormalities) is a rare, complex overgrowth syndrome with serious morbidity.	has_symptom
+deec59caa03ae9e88257faaacc17ed69c2a080af	@DISEASE$ is characterized by congenital lipomatous @PHENOTYPICFEATURE$, vascular malformations, epidermal nevi, and skeletal abnormalities (Scoliosis).	has_symptom
+d425bde6b2114b01f9bb7bac16bc50c7e1437c03	CLOVES syndrome is characterized by congenital lipomatous @DISEASE$, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$ (Scoliosis).	false
+eef5bf0a7bddcac8ccfe9462cfd936d2c951f85a	@DISEASE$ is characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$ (Scoliosis).	false
+e5b6167ed746b3a931aa22a9ee00dd056c8766fd	CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+3a5f224252d22f5fc5e11dea360cf192c06da7b5	The infant was born prematurely and displayed severe lymphovascular malformations and segmental @PHENOTYPICFEATURE$ consistent with a clinical diagnosis of @DISEASE$; he passed away at 29 days of life.	has_symptom
+8e9c36cf3d42d12513414ac4b4eb7214207231f1	Prenatal ultrasound findings of lymphovascular malformations, segmental @PHENOTYPICFEATURE$ and skeletal defects can raise suspicion for @DISEASE$, but molecular confirmation of PIK3CA mutations on prenatally obtained samples is challenging because of somatic mosaicism.	has_symptom
+fbf09346d010ffccddde9efe96b204b14631a0d9	@DISEASE$ is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous @PHENOTYPICFEATURE$, vascular malformations, epidermal nevi, and skeletal anomalies.	has_symptom
+2be9eaeb43ac580f4cf7d0a7d24bbc55d3da6a2e	CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous @DISEASE$, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$.	false
+4538b80f78b28c8faf60133125ddb5eee6786701	@DISEASE$ is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$.	false
+1203c43944782515cfe57ed2595cda1f2f2c30e6	Characterization of a distinct syndrome that associates complex truncal @PHENOTYPICFEATURE$, vascular, and acral anomalies: a descriptive study of 18 cases of @DISEASE$.	has_symptom
+76a736da3303b98dd92e006fa30b486ba989362c	@DISEASE$ (SEMDJL2) is an autosomal dominant @PHENOTYPICFEATURE$ which is characterized by midface hypoplasia, short stature, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers.	has_symptom
+c801b0329dd8fd84f9b650a5f3cef47ba36260c8	Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) is an autosomal dominant @DISEASE$ which is characterized by midface hypoplasia, @PHENOTYPICFEATURE$, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers.	false
+80971c09e519f8a42378ffed67fade470f329cd7	@DISEASE$ (SEMDJL2) is an autosomal dominant skeletal dysplasia which is characterized by midface hypoplasia, @PHENOTYPICFEATURE$, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers.	false
+be774f7bf1a5524439674c24c12f0d31198bcf0d	Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) is an autosomal dominant skeletal dysplasia which is characterized by midface hypoplasia, @PHENOTYPICFEATURE$, joint laxity with dislocations, genua valga, progressive @DISEASE$, and slender fingers.	false
+e23b756c0866543e9d7b6254e2d6bf903064570c	A 70-year old Caucasian female patient with a family history of @DISEASE$ presented with mild weakness of the bilateral facial muscles, moderate @PHENOTYPICFEATURE$, dysphagia, diplopia predominantly on the right side and difficulty tracking ocular movements bilaterally.	has_symptom
+1ce79fba7494405fa5213d809f7c6dabbc7f273d	We describe a non-consanguineous pedigree composed by several individuals with short stature, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (@DISEASE$) and 4 other siblings with @PHENOTYPICFEATURE$, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.	has_symptom
+2ee8070e946a02337697ad35ad2b45d8e180b248	We describe a non-consanguineous pedigree composed by several individuals with short stature, including 2 pediatric patients with typical diagnosis of @DISEASE$ (IGHD) and 4 other siblings with @PHENOTYPICFEATURE$, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.	has_symptom
+8cdf15360271c006200884751c118cd706f6c9f6	We describe a non-consanguineous pedigree composed by several individuals with @PHENOTYPICFEATURE$, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (IGHD) and 4 other siblings with @DISEASE$, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.	false
+6d645fd9256dfb7340ea11d41747df0cb7258a4f	We describe a non-consanguineous pedigree composed by several individuals with @PHENOTYPICFEATURE$, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (@DISEASE$) and 4 other siblings with severe short stature, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.	false
+c5781fb9df5b416ac0489dfe09ba6106aa17c664	We describe a non-consanguineous pedigree composed by several individuals with @PHENOTYPICFEATURE$, including 2 pediatric patients with typical diagnosis of @DISEASE$ (IGHD) and 4 other siblings with severe short stature, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.	false
+375f519471b55bc0c92cdeba7055efc916126b0c	Since GH and IGF-I act on all these systems, we decided to study those parameters in a cohort of individuals with @PHENOTYPICFEATURE$ due to untreated isolated GH deficiency (@DISEASE$) caused by a mutation in the GHRH receptor gene.	has_symptom
+f03ccbe7fc11bf106aa081c621a4b467babf71dd	This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular basis of @PHENOTYPICFEATURE$ in a large consanguineous family with @DISEASE$.	has_symptom
+df54b3ec9c0a69d6467a82056acc85d24eeb0660	The aetiopathogenesis of @DISEASE$: @PHENOTYPICFEATURE$--thin hypotheses.	has_symptom
+0cec07a660e3a88dfdb97227dc7498864e49392b	Familial factors and @PHENOTYPICFEATURE$ modulate the neuromotor phenotype in @DISEASE$.	has_symptom
+d42f5e0f73c26bdda21e2f8775e9371a81177270	In 1951, Perrault reported the association of @DISEASE$ and @PHENOTYPICFEATURE$, now referred to as Perrault syndrome.	has_symptom
+1f1c564fecc173cae8acf640787408c2e7dfa8f8	Young and middle-aged women with @DISEASE$ (TS) have a progressive type of @PHENOTYPICFEATURE$, deteriorating rapidly in adult age.	has_symptom
+27e91910d4c849d2186dd2cc5dfd8654bd32f144	This patient exhibits many classical clinical features of @DISEASE$ including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and @PHENOTYPICFEATURE$.	has_symptom
+a60d796ef7f1f82b1b383baceb9fd246b345b105	This patient exhibits many classical clinical features of Turner syndrome including @PHENOTYPICFEATURE$, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and @DISEASE$.	false
+d25148b80222dc7115364d459f8817150c934f8e	This patient exhibits many classical clinical features of @DISEASE$ including @PHENOTYPICFEATURE$, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment.	false
+b21ca9a2a7e2a8b84228fb5bc9ba6192c85de312	This patient exhibits many classical clinical features of Turner syndrome including @PHENOTYPICFEATURE$, characteristic @DISEASE$ anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment.	false
+1b516fd852929465505352c6e4fa17fac9740ee9	The purpose of this study was to evaluate the prevalence, type, and severity of @PHENOTYPICFEATURE$ in patients with @DISEASE$ (TS) and to determine whether these characteristics correlated with the patient karyotype and age.	has_symptom
+9a9223089bb20721135c8fd90bae22b2c20ec1cb	Perrault syndrome is a rare disease comprising pure @DISEASE$ (46 XX) and sensorineural hearing loss in females and @PHENOTYPICFEATURE$ alone in affected males.	has_symptom
+d7394b0ec96bb066b8cfff6195ac17d9173b9bc1	@DISEASE$ is a rare disease comprising pure gonadal dysgenesis (46 XX) and @PHENOTYPICFEATURE$ in females and deafness alone in affected males.	false
+c9562e80ef9f77bd0a960e943e4c3e28d9ed6025	Perrault syndrome is a rare disease comprising pure @DISEASE$ (46 XX) and @PHENOTYPICFEATURE$ in females and deafness alone in affected males.	false
+c530fe605ded77f396975c29e5e8e74280ae9906	Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and @PHENOTYPICFEATURE$ in females and @DISEASE$ alone in affected males.	false
+bbf5231e986a03b752c9a745d8be8312ae154d6e	P<0.01) CONCLUSION: we conclude that the familial influences and risk factors such as recurrent otitis media in combination with @PHENOTYPICFEATURE$ serve primarily as important predictors of the individual neuromotor phenotype in @DISEASE$.	has_symptom
+617ed249e542caed0a725d667ec8ac938de19611	In 1951, Perrault reported the association of @DISEASE$ and @PHENOTYPICFEATURE$, now referred to as Perrault's syndrome.	has_symptom
+e0f503c79ae4c9c7289c68856c5e2a828b9cbf72	We report on two pairs of sisters with @DISEASE$ and @PHENOTYPICFEATURE$, cerebral, and ocular involvement who developed a progressive, severe sensory, and motor neuropathy.	has_symptom
+e2fbae38127cb56fa497633d775536f774ccc211	Adults with @DISEASE$ are thought to have a reduced life expectancy, mainly due to excess cardiovascular risk, but they may also have multiple comorbidities including hypothyroidism, @PHENOTYPICFEATURE$, osteoporosis and the attendant problems of oestrogen deficiency and infertility.	has_symptom
+7b0c7292fafc97971b407f192b1fc3e8d72dabd1	The aim of this study is to compare histological morphology of craniomaxillary complex of @DISEASE$ with @PHENOTYPICFEATURE$ (Ts + CP) and euploid mouse foetuses to understand whether cleft palate is associated with maldevelopment of the craniomaxillary complex or with hypoplasia of the adjacent tissues.	has_symptom
+d07e21238875cb1e2dfda545e9534dff791abb7f	The aim of this study is to compare histological morphology of craniomaxillary complex of @DISEASE$ with cleft palate (Ts + CP) and euploid mouse foetuses to understand whether @PHENOTYPICFEATURE$ is associated with maldevelopment of the craniomaxillary complex or with hypoplasia of the adjacent tissues.	has_symptom
+482afc3d5bd392fc542534e7d15d6908e2ccf8df	We present a new case of the @DISEASE$ (BGS) in an infant with prenatally apparent severe hydrocephalus, @PHENOTYPICFEATURE$, and cardiac and limb abnormalities detected by ultrasound at 26 weeks of gestational age.	has_symptom
+947a9ab51812873d175ae569bbcdaa155c5d7c20	We present a new case of the Baller-Gerold syndrome (BGS) in an infant with prenatally apparent severe @DISEASE$, growth retardation, and cardiac and @PHENOTYPICFEATURE$ detected by ultrasound at 26 weeks of gestational age.	false
+1262af17d1e0b44aa5ee88145a67e7f724cf4c24	We present a new case of the Baller-Gerold syndrome (BGS) in an infant with prenatally apparent severe hydrocephalus, @DISEASE$, and cardiac and @PHENOTYPICFEATURE$ detected by ultrasound at 26 weeks of gestational age.	false
+b0908dbe2e06121c9040c6aa3fc16632af4b53f6	We present a new case of the @DISEASE$ (BGS) in an infant with prenatally apparent severe hydrocephalus, growth retardation, and cardiac and @PHENOTYPICFEATURE$ detected by ultrasound at 26 weeks of gestational age.	false
+bb2d49f2c8eead175bbd31fdf1d99d4569337d90	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and @PHENOTYPICFEATURE$, in most cases without evidence for @DISEASE$ (AHO).	has_symptom
+501911221f8e9b8d21ecfdcbcb40966d9b7ca382	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and @DISEASE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+40dde808064182cea3b862eadd7898279b1b6e9b	@DISEASE$ type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+42f09722780f3294a0d0ae2079755500d6f64993	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and hyperphosphatemia, in most cases without evidence for @DISEASE$ (AHO).	false
+352710fcdd450a624e0fd178cc85aeb40878c3c7	@DISEASE$, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, @PHENOTYPICFEATURE$ and retinal dysfunction.	has_symptom
+e157bd903b77f59f05ed78c396e81cc76fd49f69	Zellweger syndrome, a paradigm of human @DISEASE$ is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, @PHENOTYPICFEATURE$, sensorineural deafness and retinal dysfunction.	false
+f153070322dab5f0088ff4979ff287c7a7d31137	Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, @PHENOTYPICFEATURE$, @DISEASE$ and retinal dysfunction.	false
+993957a81a037f98207842f82ab1a3e37ab883c9	@DISEASE$, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, @PHENOTYPICFEATURE$, sensorineural deafness and retinal dysfunction.	false
+29904a7e8a476b4207e74a35fc2f8e6ceb21269a	It also covers osteopetrosis, hypophosphatasia, pseudohypoparathyroidism (with @DISEASE$), familial benign hypercalcaemia, autosomal dominant @PHENOTYPICFEATURE$ and the molecular causes of some chondrodysplasias.	has_symptom
+100fd6b159e7ebb21310841b28d22a73e2226ef4	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of @DISEASE$ (short stature, round face, mild obesity, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--@PHENOTYPICFEATURE$, hyperphosphatemia.	has_symptom
+35bf6dae6a160b69d724136737171491ca56beb9	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of @DISEASE$ (@PHENOTYPICFEATURE$, round face, mild obesity, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--hypocalcemia, hyperphosphatemia.	false
+4ebace75b5b76e08fff12560a55627459f83a082	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of @DISEASE$ (short stature, round face, mild @PHENOTYPICFEATURE$, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--hypocalcemia, hyperphosphatemia.	false
+52d57b65f4b29a576910eaff451c40cff2d3661f	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of Albright's hereditary osteodystrophy (short stature, round face, mild @PHENOTYPICFEATURE$, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--@DISEASE$, hyperphosphatemia.	false
+9acf60e2236dbcc0788c5e773d514a13fec15d4f	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of Albright's hereditary osteodystrophy (short stature, round face, mild @PHENOTYPICFEATURE$, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--hypocalcemia, @DISEASE$.	false
+10092e3d83d2c6781b6251ecb07da35aaa03125e	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of Albright's hereditary osteodystrophy (@PHENOTYPICFEATURE$, round face, mild obesity, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--@DISEASE$, hyperphosphatemia.	false
+3782bf57a710c69962757d53d772249eecb37a20	The authors describe the case of a 14-year old girl with pseudohypoparathyroidism, who showed characteristic phenotypic features of Albright's hereditary osteodystrophy (@PHENOTYPICFEATURE$, round face, mild obesity, abnormal position of teeth, lack of canines, limb valgity) and biochemical disturbances--hypocalcemia, @DISEASE$.	false
+42f09722780f3294a0d0ae2079755500d6f64993	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and hyperphosphatemia, in most cases without evidence for @DISEASE$ (AHO).	has_symptom
+7009813fbd2e1740c235e8ee35596f7d3ebe21fd	@DISEASE$ type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and @PHENOTYPICFEATURE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+6976824773e9468ea33de6e9fd8c3036f79122a4	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @DISEASE$ and @PHENOTYPICFEATURE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+bb2d49f2c8eead175bbd31fdf1d99d4569337d90	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and @PHENOTYPICFEATURE$, in most cases without evidence for @DISEASE$ (AHO).	false
+e7a9495013cc54376121554155a4a176caca7075	At the age of 10 years, she presented with fatigue, and laboratory analyses showed marked @PHENOTYPICFEATURE$ with signs of PTH resistance, but without evidence for @DISEASE$, thus suggesting pseudohypoparathyroidism type 1B.	has_symptom
+3c3257e6ea0e655de519a250103fe4e9123d7766	The genetic syndrome that most frequently co-occurs is @DISEASE$ characterized by skeletal abnormalities, @PHENOTYPICFEATURE$, congenital myopia and retinal detachment.	has_symptom
+2b7cd35700bf1dd97d88173c72008abb2ce1ee33	The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by @PHENOTYPICFEATURE$, joint pain, congenital @DISEASE$ and retinal detachment.	false
+5ad34ce36db63773fbb51bf88113f5b463400b6c	The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by @PHENOTYPICFEATURE$, joint pain, congenital myopia and @DISEASE$.	false
+20a3ae492a8f157787437b7cd8e86ba5a7e59889	The genetic @DISEASE$ that most frequently co-occurs is Stickler syndrome characterized by @PHENOTYPICFEATURE$, joint pain, congenital myopia and retinal detachment.	false
+e260000326b60586d6694a3544c7420ffe364950	The genetic syndrome that most frequently co-occurs is @DISEASE$ characterized by @PHENOTYPICFEATURE$, joint pain, congenital myopia and retinal detachment.	false
+5dff40d001f76e505c4b325383b90c047837f1f5	The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, congenital myopia and retinal detachment.	false
+37412fe29308a5cc08bd54403f9feda9d10ef04c	@DISEASE$ and @PHENOTYPICFEATURE$: a case report and discussion of the literature.	has_symptom
+18eafee0d610a992cffd4cdacf75c9f2d3fe6acd	Four isolates of ectomycorrhizal fungi namely, Pisolithus tinctorius (EM-1293 and EM-1299), Scleroderma verucosum (EM-1283) and @PHENOTYPICFEATURE$ @DISEASE$ (EM-1233) were grown on pond ash moistened with Modified Melin-Norkans medium in vitro.	has_symptom
+db5d3c674ea27cb0f885542751f4ab7167f197f8	Four isolates of ectomycorrhizal fungi namely, Pisolithus tinctorius (EM-1293 and EM-1299), @PHENOTYPICFEATURE$ verucosum (EM-1283) and Scleroderma @DISEASE$ (EM-1233) were grown on pond ash moistened with Modified Melin-Norkans medium in vitro.	has_symptom
+2802af8cee79d8ae6944df1a3137d445b2dbb966	Six isolates of ectomycorrhizal fungi namely, Laccaria fraterna (EM-1083), Pisolithus tinctorius (EM-1081), Pisolithus tinctorius (EM-1290), Pisolithus tinctorius (EM-1293), Scleroderma verucosum (EM-1283), and @PHENOTYPICFEATURE$ @DISEASE$ (EM-1233), were grown on three variants of coal ash, namely electrostatically precipitated (ESP) ash, pond ash, and bottom ash moistened with Modified Melin-Norkans (MMN) medium in vitro The colony diameter reflected the growth of the isolates on the coal ash.	has_symptom
+2e8be75e54659a6073db02d6bec32d5e74f8e7fb	Six isolates of ectomycorrhizal fungi namely, Laccaria fraterna (EM-1083), Pisolithus tinctorius (EM-1081), Pisolithus tinctorius (EM-1290), Pisolithus tinctorius (EM-1293), @PHENOTYPICFEATURE$ verucosum (EM-1283), and Scleroderma @DISEASE$ (EM-1233), were grown on three variants of coal ash, namely electrostatically precipitated (ESP) ash, pond ash, and bottom ash moistened with Modified Melin-Norkans (MMN) medium in vitro The colony diameter reflected the growth of the isolates on the coal ash.	has_symptom
+6a273a590f4b4207d86f3f7acc4a76cf30569ec9	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, @PHENOTYPICFEATURE$/hyposmia, and hypogonadotropic hypogonadism.	has_symptom
+7ab2bf855e3d7ba2431a97bafebeb98d37b20c46	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @PHENOTYPICFEATURE$, anosmia/hyposmia, and hypogonadotropic hypogonadism.	false
+fdbafc99e32b22883a4fe7ad4040516633a8d792	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and @PHENOTYPICFEATURE$.	false
+46af9f955f33328fb366e4204c6f819780066c88	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @PHENOTYPICFEATURE$, @DISEASE$/hyposmia, and hypogonadotropic hypogonadism.	false
+3fca1c1b9449793b783d44edb8b4e7ca35514914	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, @DISEASE$/hyposmia, and @PHENOTYPICFEATURE$.	false
+4e3e092ae36bbcf96dfde7b4aece41eed4ecab74	@DISEASE$ can be diagnosed prenatally by sonography showing craniosynostosis, @PHENOTYPICFEATURE$ with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found.	has_symptom
+6a848f3fe7ad0cb886bd098b7d615bc76288b716	We present a case of @DISEASE$ prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, @PHENOTYPICFEATURE$ associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation.	has_symptom
+0297a6a5143b1a25dc68f7c5fd51ce6608b2299e	We describe a fetus in whom sonographic findings of clover leaf skull deformity, @PHENOTYPICFEATURE$, and varus deformity of the great toe led to the prenatal diagnosis of Pfeiffer syndrome type 2. We believe this is the second prenatal diagnosis of @DISEASE$, and the first time type 2 has been definitely identified in the second trimester of pregnancy.	has_symptom
+635cfa7c0474aecec7a6e2abfe1fcd6ee1193483	[Myopathy, @PHENOTYPICFEATURE$ and @DISEASE$ like features in siblings].	has_symptom
+d42d9b4f983af0a1b45bdd6d030a5a95c654c8af	@DISEASE$ (SMA) is an early-onset motor neuron disease characterized by loss of ?-motor neurons and associated @PHENOTYPICFEATURE$.	has_symptom
+0a6d7e00c2156c0483cddea760624cc6e4d38244	@DISEASE$ (SMA) is an autosomal recessive disease characterized by degeneration of alpha-motor neurons and @PHENOTYPICFEATURE$.	has_symptom
+0828c985819580410e5bc2b520ed3a614b4d42aa	Childhood-onset @DISEASE$ (SMA) is an autosomal recessive disorder caused by degeneration of the anterior horn cells of the spinal cord, leading to progressive paralysis with @PHENOTYPICFEATURE$.	has_symptom
+7fe824ea477334c2b78416ad1610006f42c84473	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and @DISEASE$ (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	has_symptom
+fccd0396c45f96908fa38de1b4e620577875ae98	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (@DISEASE$) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	has_symptom
+7ee55a980b043df1d2e7864ad3b2cb97a06ac843	@DISEASE$ (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+7dea670f3a10761329108c0fb4501631bede3e8c	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, @DISEASE$, or stupor.	false
+8b2721ccd5daabc899a703be6fa9663b6cc24c99	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and @DISEASE$ (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+9a767d1087d708addc2b317de3a35da618b39edb	Duchenne muscular dystrophy (DMD), @DISEASE$ (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+f36485c3cf7cc530d1e53da3b98fdaf57c5b9431	Duchenne muscular dystrophy (@DISEASE$), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+a99fbf73f3b37e018e98190718858290ece1c15d	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (@DISEASE$) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+8f06e38730347056a860e367a2b432c40c532866	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, @DISEASE$, and glycerol kinase deficiency.	has_symptom
+ddf115d40e7565af3c625bf336f712a436f09a8a	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, @DISEASE$, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+eedff739caac93f20fba4fd14faac8b3ee146124	All patients had @PHENOTYPICFEATURE$ or muscle weakness, @DISEASE$, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+9cddc236dd92c385b777689b7a578d22174c2011	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+1413bf80f174191dfa24e249ad92ce54755d63ab	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+23cd9afdcd8bcbb889a64b4b38bd1b0427ad68b4	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+09c6839c355bfd6617316240bc1fcf036afeaecb	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+48caaa6dda6048896670565abe8a22db6ceded67	Alternating hemiplegia of childhood (@DISEASE$) is a rare disorder mainly characterised by attacks of hemiplegia and @PHENOTYPICFEATURE$.	has_symptom
+774a2e5d8c2c9e5e4b641eac0c1097c93581acc0	@PHENOTYPICFEATURE$ in a boy with @DISEASE$: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.	has_symptom
+90d7505734ec40cbd187c87a641a2f1dbdd1d426	The clinical manifestations of this disease include hypertriglyceridemia, congenital adrenal hypoplasia (@DISEASE$), Duchenne muscular dystrophy, and @PHENOTYPICFEATURE$.	has_symptom
+98310bffeed90e4056884a21c4b1b538ab8a194d	The clinical manifestations of this disease include hypertriglyceridemia, @DISEASE$ (AHC), Duchenne muscular dystrophy, and @PHENOTYPICFEATURE$.	has_symptom
+e481cbd6bbe32b9511e1767beebd34ee86b68fcd	The results suggest that AHC is characterized by frequent episodes of alternating hemiplegia with extrapyramidal symptoms and @PHENOTYPICFEATURE$, flunarizine is effective in treating some @DISEASE$ patients.	has_symptom
+10411ecf78a599ce0b7eba22cf78856532e3d9a5	Alternating hemiplegia of childhood (@DISEASE$) is a rare disorder mainly characterized by attacks of hemiplegia and @PHENOTYPICFEATURE$.	has_symptom
+35aebb839c0075b3ba77201438b5aaa4ccf6850a	We describe the case of a young girl with @DISEASE$ who had tonic/dystonic and plegic attacks, mostly triggered by exercise, together with mild permanent dystonia and @PHENOTYPICFEATURE$.	has_symptom
+0ae51c75b9ce39557a25db4e0c770460e6d6d106	@DISEASE$ can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and @PHENOTYPICFEATURE$ (MR), as part of a contiguous gene deletion syndrome.	has_symptom
+f23ebd27d3a180df698ffb7f21997f7d6ab3d048	We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), @DISEASE$ (AHC), and @PHENOTYPICFEATURE$.	has_symptom
+d670e1730510efa51717a74260b21fd5f32d801f	We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (@DISEASE$), and @PHENOTYPICFEATURE$.	has_symptom
+1fb3f0e0f3a484f44440c45ae2635671153098cc	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive @DISEASE$ in early childhood with @PHENOTYPICFEATURE$, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	has_symptom
+366ca8143e0fd47337c78d6cafee3715a37b5c8a	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	false
+9d058fe98add534a9560793bc5f7d222177ee2c0	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, mental retardation, hypotonia and sometimes with @DISEASE$, leukopenia, and neutropenia.	false
+a841b6511c5eefa9b5a8dd45c3a0cc05b149f568	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with @DISEASE$, seizures, developmental delay, @PHENOTYPICFEATURE$, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	false
+f2bfbda8f97b90c1cd88fbeda3b606c954ca737e	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive @DISEASE$ in early childhood with failure to thrive, seizures, developmental delay, @PHENOTYPICFEATURE$, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	false
+2daaa66a6e1ce9523ba9aafffded5c9285378cde	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, @PHENOTYPICFEATURE$, hypotonia and sometimes with @DISEASE$, leukopenia, and neutropenia.	false
+72fc5f9fd6425d33ca393c0c895a67c62a4abc4e	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive @DISEASE$ in early childhood with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	false
+627d32e8217f6e9a92acb5bf47e37c13456a6e2a	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and @DISEASE$.	false
+d2d04189e481b05f58d513efa3363e4193b2bd03	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, @PHENOTYPICFEATURE$, hypotonia and sometimes with polycythemia, leukopenia, and @DISEASE$.	false
+58a45e243edbc590ec43565a54688c0b805baf11	Early-onset familial Alzheimer's disease (@DISEASE$) is a condition characterized by early onset @PHENOTYPICFEATURE$ (age at onset < 65 years) and a positive family history for dementia.	has_symptom
+f279fa382d30159e71d21ad67ec2562f202118c8	@DISEASE$ (IHES) is an uncommon systemic disease which is characterised by blood @PHENOTYPICFEATURE$ and multiple clinical presentations.	has_symptom
+33aa1ed3afa386251ae5c105936f858a9f5bb18a	@DISEASE$ (IHES) is a rare condition of uncertain etiology characterized by marked peripheral blood @PHENOTYPICFEATURE$ and organ system dysfunction that cannot be explained by any factor other than the presence of eosinophils or their potentially toxic products.	has_symptom
+f93654c437b83e6ae8f797c8c438ffe6abee4c3c	Our report narrows the likely causative genomic region for @PHENOTYPICFEATURE$ and neurodevelopmental delay in @DISEASE$ to a small genomic region enriched with neural progenitor genes that may represent an important locus for the development of the human cortex and corpus callosum.	has_symptom
+fa1bc11dd2fbd0473ee605a5d5859c4e52f67173	Our report narrows the likely causative genomic region for microcephaly and @PHENOTYPICFEATURE$ in @DISEASE$ to a small genomic region enriched with neural progenitor genes that may represent an important locus for the development of the human cortex and corpus callosum.	false
+803f949dd6b6ab1241c91481108c68343110b151	Our report narrows the likely causative genomic region for @DISEASE$ and @PHENOTYPICFEATURE$ in 2q37 microdeletion syndrome to a small genomic region enriched with neural progenitor genes that may represent an important locus for the development of the human cortex and corpus callosum.	false
+4feedf6a08cb22abb0846c61f3bb674993911bcc	The @DISEASE$: a new familial association with @PHENOTYPICFEATURE$ and trisomy 13 syndrome.	has_symptom
+c3f747c415dc6befeaa684bf9d4336226c22d73d	A 54-year-old man with a history of nonalcoholic steatohepatitis and @DISEASE$ presented 2 months after an orthotopic liver transplant with @PHENOTYPICFEATURE$ and abdominal pain.	has_symptom
+205728f5385d888f047697c3e0bc9d68e0ceccd9	A 54-year-old man with a history of nonalcoholic steatohepatitis and @DISEASE$ presented 2 months after an orthotopic liver transplant with fever and @PHENOTYPICFEATURE$.	false
+a40b0ac975c553a6cdc667ad956b0ee76b24cf3f	A 54-year-old man with a history of nonalcoholic steatohepatitis and hepatocellular carcinoma presented 2 months after an orthotopic liver transplant with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+38a18bc9bdb01b71278431ea30a52074079589c6	A 59-year-old male patient presented with @PHENOTYPICFEATURE$ and cough eight years after an orthotopic liver transplantation for cirrhosis and @DISEASE$.	has_symptom
+21f384ae77b815126e5d28b1301f140847c26f59	The incidences of pain (P?=?.327), @PHENOTYPICFEATURE$ (P?=?.171) and nausea/vomiting (P?=?.400) during hospitalization were similar between the 2 groups.DEB-TACE is more efficient and equally tolerant compared with cTACE in @DISEASE$ patients with multiple cTACE treatments history.	has_symptom
+3afbee8b8625bfab1ac0d1b7075968bb1d289344	@PHENOTYPICFEATURE$ inhibits hypoxia-induced epithelial-mesenchymal transition in HepG2 @DISEASE$ cells.	has_symptom
+6a88466cedf44b59fa693e33b82b9a794a4b3c40	Here, we report a case of 72-year-old man with @DISEASE$ and alcoholic liver cirrhosis who developed skin eruptions, @PHENOTYPICFEATURE$, eosinophilia, and deteriorated hepatic and renal function under sorafenib treatment.	has_symptom
+0920ebe24d9b48c6cfb293bd792daba3e1a3a6d4	A 46-year-old man with @DISEASE$ was admitted with chief complaints of headache, @PHENOTYPICFEATURE$ and dizziness.	has_symptom
+384c61feea0f35a1b2b5994137795741b49106b8	We encountered a 63-year-old male patient with a small @DISEASE$, 2.5 cm in diameter, presenting with @PHENOTYPICFEATURE$, abdominal pain and sensation of abdominal fullness.	has_symptom
+6882fd54ed0d027f60d5a619f98ff78f51ec24e4	We designed a phase II trial of combined external radiotherapy and @PHENOTYPICFEATURE$ for @DISEASE$ that was unresectable due to either locally advanced lesions or associated liver cirrhosis so as to evaluate the efficacy and the safety of this combination regimen.	has_symptom
+9b43a5b921e60500d898fcb8d56b93e0a4fa3e2f	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, @PHENOTYPICFEATURE$, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and @DISEASE$.1	has_symptom
+58e1040e6133ddd6901addbf3024184829cb2692	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, @PHENOTYPICFEATURE$, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and @DISEASE$.1	false
+2b4e6c8c5041c169ceaa8b7967269948a9b27874	Affected individuals may present with any of a number of signs and symptoms, including @PHENOTYPICFEATURE$, fever, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal @DISEASE$, or conditions such as rickets and hepatocellular carcinoma.1	false
+205ba326a8bed13db336868e7084dfde73c84f50	Affected individuals may present with any of a number of signs and symptoms, including @PHENOTYPICFEATURE$, @DISEASE$, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.1	false
+7cbd3ebf8f0eb4315cef88fdbd30b53dda7482bc	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.1	false
+fb8f4153556fd66956e60b7872cf4bb559695da6	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, @DISEASE$, @PHENOTYPICFEATURE$, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.1	false
+ff8a78f9ffb8bf4f8eaf9d488ee81e7d05874cdb	Affected individuals may present with any of a number of signs and symptoms, including @PHENOTYPICFEATURE$, fever, vomiting, @DISEASE$, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.1	false
+3dba758fbc618524f4a53298768fc26029352996	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, @PHENOTYPICFEATURE$, diarrhea, hepatomegaly, ascites, jaundice, renal @DISEASE$, or conditions such as rickets and hepatocellular carcinoma.1	false
+c9c56105209db9be61cbea15e5e87b0157701d7b	Affected individuals may present with any of a number of signs and symptoms, including @PHENOTYPICFEATURE$, fever, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and @DISEASE$.1	false
+584f3a7db01fdb0eac8bd6368766d168841f225d	Histological studies of surgically resected @DISEASE$ following combined radiotherapy and @PHENOTYPICFEATURE$.	has_symptom
+52b0bd4a00bc53d57abd1c43fe53a4b52023e640	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	has_symptom
+3b1d1dad2f750e41a494fb275af9281c71aea790	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+27dc7b94464b8bcab1925d182e5c43031cefa816	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and @DISEASE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+2af0baec885f50cfe297e796f19fb1eb414af9be	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+9ff9ffdda72e6eab68da1b1d555be5a2d4d7038a	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial @DISEASE$ with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+87df427fa8a652cfc21ff7e778947542c0e45aa6	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+b611205b56833d6d262585eabea62d2d35742e2e	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+dc84289776604f1b9967ce5a2037a6f2ecd16a4f	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @DISEASE$, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+35d3b7dcb4d4ebf2542f796bd0533d7447045c1e	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+7b665cd7ac53cc92c086fd8ff04aaa6bcf745d1e	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, @DISEASE$ and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+2bd8a0113d96e53d5fb3c8721b90dd6286f5afc2	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial @DISEASE$ with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+7e5471eac1135d0728c6e809847c6a7a682ea63b	In 1962 Bartter et al. described a clinical syndrome characterized by growth and @PHENOTYPICFEATURE$, @DISEASE$, increased aldosterone secretion rate and increased plasma angiotensin II concentration in the presence of normal blood pressure.	has_symptom
+2ae781f3959a4b76286a529067b21d350ba56f35	We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, @PHENOTYPICFEATURE$, epilepsy, sensorineural deafness, ataxia, and @DISEASE$.	has_symptom
+e91880e50537c1f5c8ae8d9c45cab0e10cb3274f	We describe a 20-year-old man with tyrosinase-negative oculocutaneous @PHENOTYPICFEATURE$, mental retardation, epilepsy, sensorineural deafness, ataxia, and @DISEASE$.	false
+ac0e446d2bc4ab2c01d4c5bcae4064936c68e973	We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, @DISEASE$, epilepsy, sensorineural deafness, @PHENOTYPICFEATURE$, and Bartter syndrome.	false
+4ab9ce649da77fc4ae558c378131ad1e1d5dc00b	We describe a 20-year-old man with tyrosinase-negative oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, sensorineural deafness, ataxia, and Bartter syndrome.	false
+f42b81a75ac481818264eb764b369b287afe4eb5	We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, ataxia, and Bartter syndrome.	false
+17d9f411d2493a785828e490a0d89707bda7121b	We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+10eb74640da2a1e918fdd084fc2b68d958344229	We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, @PHENOTYPICFEATURE$, ataxia, and @DISEASE$.	false
+06c15d6b89c4f91c9c0a08abbfadcf0e1f4c7e5c	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	has_symptom
+7370f9726cb6bab0ec1eea3dba9791a2b82bdc4f	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+f635df82261c4b826441791f6edc06bc744a49a1	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial @DISEASE$ with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+544c21b6afe00aaf94289ff461bc53d8101048f4	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and @DISEASE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+71ed8fc4619ba47f5051ee33ddaa129042f6fd95	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant @DISEASE$.	false
+cdf402ce698a4a096b6c04a3f6c93654f7da4243	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+cf72ad7965f4a422d42c0d7879ef157195f5f2ca	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, @DISEASE$ and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+589216853fa1c360958f8df3dc5d27d797120f20	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+96e430585a31e435e86c26741dd02ed0638acfd4	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+ee01a39a11b6ddff992c3f018330c0c9fc07e07d	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @DISEASE$, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+73da9cf216792bad9365155c441e6eaa78c73642	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant @DISEASE$.	false
+18ed6f985bf983ae8944a46d371a56c1064a7f3b	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial @DISEASE$ with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+f1b1869939427bdf72891461d72d09e9e5411894	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+06da8a16badf4f079fc6ddbc31b977603f58e260	[Nadler-Wolfer-Elliot syndrome (@PHENOTYPICFEATURE$ @DISEASE$)].	has_symptom
+10851b486c6eaad331020bfdbe735f97e2a5f3cd	[The treatment of spontaneous @PHENOTYPICFEATURE$ in inoperable @DISEASE$ with glucagon].	has_symptom
+6743cd39ba253521761b2ff1f7da49b0db1a73a8	@PHENOTYPICFEATURE$ and erythrocytosis associated with @DISEASE$.	has_symptom
+4d609999754c5ebf1ac33af26330b6715f222d8f	Spontaneous @PHENOTYPICFEATURE$ associated with massive @DISEASE$; a review of current concepts and report of a case.	has_symptom
+6dbc3a597f03da988ef14146f46657e3e32c18d2	[A case of @DISEASE$ which developed from type B hepatitis and presented marked @PHENOTYPICFEATURE$].	has_symptom
+9c31209676892af4deb326d302eb2ed2019abb57	@PHENOTYPICFEATURE$ and hypoinsulinemia associated with @DISEASE$ in a dog.	has_symptom
+b536c42159e497cee73f55c78faf3f12bee81c76	While erythrocytosis has a low incidence, @PHENOTYPICFEATURE$ and hypercholesterolaemia are important paraneoplastic syndromes of @DISEASE$ in Nigerian patients.	has_symptom
+8d5272192acae328a5cd41e126ce6f0b0a86eccc	A large @DISEASE$ was diagnosed complicated by recurrent episodes of @PHENOTYPICFEATURE$.	has_symptom
+9f51dfd63348c1d3f8464cf5751cc3b9295897b1	@PHENOTYPICFEATURE$ and polycythemia associated with primary @DISEASE$.	has_symptom
+d304bba8885a6da513d2db721b7fec7a7840ab64	Glucose utilization in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0d94a45cfefffda8a03690c097913fa7b60b2879	@DISEASE$ is an autosomal-dominant chondrodysplastic condition characterized by disproportionate dwarfism, short trunk, small pelvis, kyphoscoliosis, @PHENOTYPICFEATURE$, prominent joints, premature osteoarthritis, and craniofacial manifestations.	has_symptom
+118558b14bafb1acb6f8d04dec967146e2115094	@DISEASE$, first described in 1984, is a progressive infantile familial encephalopathy featuring @PHENOTYPICFEATURE$, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis.	has_symptom
+86c84ece98e5e6de240be96980b6efcda5b4df32	Aicardi-Goutieres syndrome, first described in 1984, is a progressive infantile familial @PHENOTYPICFEATURE$ featuring @DISEASE$, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis.	false
+341e8178051920a774385e43d0cdefa308bb831b	@DISEASE$, first described in 1984, is a progressive infantile familial @PHENOTYPICFEATURE$ featuring cerebral calcifications, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis.	false
+ee4da0dc57d6e90f830f92a840ee8ed9fdbb60d3	@DISEASE$, first described in 1984, is a progressive infantile familial encephalopathy featuring cerebral calcifications, mainly of the basal ganglia, @PHENOTYPICFEATURE$ and cerebrospinal fluid lymphocytosis.	false
+4c5086aa38e1a5a84261645974ee9485b3be54b7	Aicardi-Goutieres syndrome, first described in 1984, is a progressive infantile familial encephalopathy featuring @DISEASE$, mainly of the basal ganglia, @PHENOTYPICFEATURE$ and cerebrospinal fluid lymphocytosis.	false
+dda0f1cfb5fc6e5796b1a45c5f278d80b226a500	@DISEASE$ is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, @PHENOTYPICFEATURE$, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.	has_symptom
+329807baa66c1011b92fcedb8fdc8d698afed7fb	Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, @PHENOTYPICFEATURE$, alterations in the white matter of the brain, @DISEASE$, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.	false
+1b75a48cb09de3cf32df1aef05919a18d39f9f61	@DISEASE$ is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, @PHENOTYPICFEATURE$, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid.	false
+ea91a449f2170009551e2d7c5c277c099b203aa3	Whether that is the case of hypernasal speech, eventually leading to the diagnosis of @DISEASE$, or bilateral vocal fold paralysis, eventually leading to the diagnosis of @PHENOTYPICFEATURE$, it is apparent that patients with speech or voice disorders may eventually require multidisciplinary evaluation.	has_symptom
+b67fcf09646565e71c031686bbb11b98fa2bf141	@DISEASE$ is associated with fetal hypoglycemia, @PHENOTYPICFEATURE$, and elevated plasma norepinephrine (NE) that become increasingly pronounced throughout the third trimester and contribute to intrauterine growth restriction (IUGR).	has_symptom
+47894f45216a54a0813859c1b66d32d386598287	@DISEASE$ is associated with fetal @PHENOTYPICFEATURE$, hypoxemia, and elevated plasma norepinephrine (NE) that become increasingly pronounced throughout the third trimester and contribute to intrauterine growth restriction (IUGR).	false
+eb205f9d4fdba756a0cfa8a3658e1e5eb0fdcb0d	Placental insufficiency is associated with @DISEASE$ @PHENOTYPICFEATURE$, hypoxemia, and elevated plasma norepinephrine (NE) that become increasingly pronounced throughout the third trimester and contribute to intrauterine growth restriction (IUGR).	false
+0d550093a1c433de3e03c1b4dae6a6836fb264d1	Placental insufficiency is associated with fetal @PHENOTYPICFEATURE$, @DISEASE$, and elevated plasma norepinephrine (NE) that become increasingly pronounced throughout the third trimester and contribute to intrauterine growth restriction (IUGR).	false
+b81c50f580fcb5c3bb522ddb3975898296cc2390	There are described several types of neurological complications induced by nivolumab: polyneuropathy, @PHENOTYPICFEATURE$, radiculitis and @DISEASE$ disease.	has_symptom
+add9f23e616ba7ac44ce7d2606c5307aa11a95bd	Pregnancy itself may change the course of pre-existent chronic neurological diseases such as @PHENOTYPICFEATURE$, multiple sclerosis, or @DISEASE$.	has_symptom
+e36b14ffe4578d10bb774dec1a12928a34d285f1	Other neurologic syndromes, including dementia, migraine, chorea, transverse myelopathy, Guillain Barr? syndrome, transient global amnesia, @PHENOTYPICFEATURE$, motor neuron disease, @DISEASE$, and depression, have also been described in association with aPL.	has_symptom
+8990a9642d17d95e859d9ee8525259f14bcdd5ad	[@PHENOTYPICFEATURE$ in children with @DISEASE$].	has_symptom
+99a9beedc7148a536af7e601d5637efcbc0fb89d	The article reviews the problems involved in perioperative care of patients suffering from @DISEASE$, multiple sclerosis, Parkinson's disease as well as diseases associated with @PHENOTYPICFEATURE$ or convulsions.	has_symptom
+54549ee0fd595e3a2ef804ee1bb311d1a39c4d7c	Lastly, IVIG are employed successfully in some autoimmune diseases as PTI and immune cytopenias, @DISEASE$, acute and chronic inflammatory demyelinating polyneuropathy, Kawasaki syndrome, childhood recurrent @PHENOTYPICFEATURE$, juvenile chronic arthritis.	has_symptom
+add9f23e616ba7ac44ce7d2606c5307aa11a95bd	Pregnancy itself may change the course of pre-existent chronic neurological diseases such as @PHENOTYPICFEATURE$, multiple sclerosis, or @DISEASE$.	has_symptom
+a79467ba2842855f651292de7a9997b2fe881a1b	Hyperactivity was also found with T cell cultures from patients with other neurological disorders, i.e. namely, Guillain-Barr? syndrome, acute stroke, @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+8a886fad040a3d32eec32ca9de2d8d23ff27f3a8	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: @PHENOTYPICFEATURE$, encephalopathy, optic neuropathy, peripheral neuropathy, and exacerbation of @DISEASE$.	has_symptom
+f94093f189e1efcfa0b3487e01a035acccbc7cf5	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: seizures, @PHENOTYPICFEATURE$, @DISEASE$, peripheral neuropathy, and exacerbation of myasthenia gravis.	false
+02a9d4f06ca090166b784346864c2011af60a6c4	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: @DISEASE$, encephalopathy, optic neuropathy, @PHENOTYPICFEATURE$, and exacerbation of myasthenia gravis.	false
+b75ecc25b1c1e8da6e8caa86c9f6d7ca91831015	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: seizures, encephalopathy, @DISEASE$, @PHENOTYPICFEATURE$, and exacerbation of myasthenia gravis.	false
+a59f94924663b20e3c468e63fb54ef113031dc09	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: seizures, encephalopathy, optic neuropathy, @PHENOTYPICFEATURE$, and exacerbation of @DISEASE$.	false
+edebad94fca9bcb2d55f22f155dbbb0e69c38270	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: @DISEASE$, @PHENOTYPICFEATURE$, optic neuropathy, peripheral neuropathy, and exacerbation of myasthenia gravis.	false
+0e98525ddb42728c3dd7199f9db6e40f764c94d8	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: seizures, @PHENOTYPICFEATURE$, optic neuropathy, peripheral neuropathy, and exacerbation of @DISEASE$.	false
+f353245d4b77b78cc124ae358a378b64f38bbe43	@PHENOTYPICFEATURE$, encephalopathy, optic neuropathy, peripheral neuropathy, and exacerbation of @DISEASE$ are important examples of neurotoxic adverse events associated with the use of antibiotics.	has_symptom
+d0c3b24f3b7583504bb17c4011890aa273664f4a	Seizures, @PHENOTYPICFEATURE$, @DISEASE$, peripheral neuropathy, and exacerbation of myasthenia gravis are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+18abada0bdfd7156278ec058c368ee600d60dff1	Seizures, encephalopathy, @DISEASE$, @PHENOTYPICFEATURE$, and exacerbation of myasthenia gravis are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+69960afdf5df55b61385f7509ab3813f0e7fb40d	@DISEASE$, @PHENOTYPICFEATURE$, optic neuropathy, peripheral neuropathy, and exacerbation of myasthenia gravis are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+383874b33f0ee4f78a7f4a22d9cd8d36663977b5	Seizures, encephalopathy, optic neuropathy, @PHENOTYPICFEATURE$, and exacerbation of @DISEASE$ are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+7bb5ee6b3603396e4db23910e82da697b8dec990	Seizures, @PHENOTYPICFEATURE$, optic neuropathy, peripheral neuropathy, and exacerbation of @DISEASE$ are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+9c0c2e83b0ec611c4831975ecacce9e9ef48e4db	@DISEASE$, encephalopathy, optic neuropathy, @PHENOTYPICFEATURE$, and exacerbation of myasthenia gravis are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+4535e772a04926b3961b33add965091d1c090c6a	Scapuloperoneal @PHENOTYPICFEATURE$ phenotype due to TRIM32-@DISEASE$ in South Dakota Hutterite.	has_symptom
+01a4e431373d842f26c449cbe7a450cfe4c9e918	None of the families had @PHENOTYPICFEATURE$, but affected family members had the @DISEASE$ Cognitive Profile (WSCP).	has_symptom
+c0416a21e6dfa66741bb215420200461a53234e5	GTF2I hemizygosity implicated in @PHENOTYPICFEATURE$ in @DISEASE$: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.	has_symptom
+e6ff28658a0920d65d2d59716b0dcf4f0719f368	GTF2I hemizygosity implicated in @PHENOTYPICFEATURE$ in Williams syndrome: genotype-phenotype analysis of five families with deletions in the @DISEASE$ region.	has_symptom
+58fce197036b64ed8f60ac0e3352989c4643cb41	Williams-Beuren syndrome (WBS), also known as @DISEASE$, is a rare congenital disorder involving cardiovascular problems, @PHENOTYPICFEATURE$, distinctive facial features and tooth anomalies.	has_symptom
+ef683ff7e20d487eabbdc9e2d724924593d0d939	@DISEASE$ (WBS), also known as Williams syndrome, is a rare congenital disorder involving cardiovascular problems, @PHENOTYPICFEATURE$, distinctive facial features and tooth anomalies.	has_symptom
+451f4d85432e4f705e83e48d094f9eb18a4cf65b	@DISEASE$ (WBS) manifests as supravalvular aortic stenosis, @PHENOTYPICFEATURE$, developmental delay and characteristic facial features.	has_symptom
+3f575d0bbe4db85fb4fae12639e952665d7c8b16	@DISEASE$ has a tetrad of cardiovascular disease, elfin face, @PHENOTYPICFEATURE$ and hypercalcemia.	has_symptom
+7d20fab50db04be5e360f4e0dabe291c5436fa1e	@DISEASE$ is rare and associated with physical anomalies and @PHENOTYPICFEATURE$.	has_symptom
+d687e92fbf9648fa96b68273cdb66511803c432b	No family member had @PHENOTYPICFEATURE$, characteristic facies or other findings of @DISEASE$.	has_symptom
+8d72b53965f9f119e9451816a83e1e3cd0877433	@DISEASE$ is characterized by a constellation of features including @PHENOTYPICFEATURE$ and supravalvular aortic stenosis.	has_symptom
+4f58a14166165615060b78719b8eda26edd7c0e7	@DISEASE$ is characterized by the triad of supravalvular aortic stenosis (SAS), @PHENOTYPICFEATURE$ and elfin facies.	has_symptom
+5c81b1dfca1a12a50642e6f66e094fe0d9e2a429	@DISEASE$ is a rare disease associated with a characteristic facies, supravalvular aortic stenosis, and @PHENOTYPICFEATURE$.	has_symptom
+db0a4034c8d3fd72fd0369e97542de688bfa35a0	The change of brain observed in this case were interpreted as a combined result of (i) essential change to classical @DISEASE$, (ii) ischemic change due to frequently repeated @PHENOTYPICFEATURE$, (iii) chronic toxicity by long-term anticonvulsant administration.	has_symptom
+6b0e98ae2e54dcad869013649f9fb0327d7155de	The patients with Sandhoff and @DISEASE$ were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory @PHENOTYPICFEATURE$, pneumonia aspiration, or swallowing disorders.	has_symptom
+047ecdfe6caa2df90fde7307b053d356a76d5b0f	The clinical manifestations of @DISEASE$ include progressive developmental delay, @PHENOTYPICFEATURE$, deafness, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	has_symptom
+66f64d631b4d9e5f179a2f9047001fa6f07fe3d5	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, @PHENOTYPICFEATURE$, blindness, spasticity, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+57e3ef8fabcd933c19edf78bd0f9ba7db4abe0de	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, @PHENOTYPICFEATURE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+732c45cd77918e296303a389babb912d966bd610	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @DISEASE$, deafness, @PHENOTYPICFEATURE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+c0d56f4fde137bae9f7c2573a3e02a03d549f751	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+050f1fef94686ef4d3d22bb05ebb61122e236417	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, @PHENOTYPICFEATURE$, spasticity, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+5fd0e623f2bcd30b5ef403a53dd623e462a2799a	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @DISEASE$, deafness, blindness, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+97f93f7cc798d523137c5ddc79fd0936fd3da4f3	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, @PHENOTYPICFEATURE$, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+dc83328046c32fb12a7a95e58f7e397b9fcdb867	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+0beea8ab01fae64d32b8046e57abc22dfca927dd	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+ad710229cae8da1fd0b9b1132081885362c0f470	Histological observation of the brain of @DISEASE$ with @PHENOTYPICFEATURE$ and chronic DPH intoxication--report of an autopsy case.	has_symptom
+51c64913275d03c1bb5cc8c828c15badbcbb8584	@DISEASE$ is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy, liver failure, and @PHENOTYPICFEATURE$.	has_symptom
+3afbb65c874de061a77372bc17901e5549f4d697	@PHENOTYPICFEATURE$ and Stutter as Presenting Symptoms of Late-Onset @DISEASE$ in Three Siblings.	has_symptom
+ddced0b1128d5a677c1e6d69ea1b7e17465e36df	Fetal @PHENOTYPICFEATURE$ is present in more than half of all patients with LMPS, and all patients with @DISEASE$ are either stillborn or die in the early neonatal period.	has_symptom
+b7fcc126aea204de8b64b1a27f49f45ce639692f	Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited @DISEASE$ also characterized by spontaneous @PHENOTYPICFEATURE$.	has_symptom
+eb2ca338f79d59610b71142d7e4122265a870c69	Intractable @PHENOTYPICFEATURE$ and @DISEASE$ secondary to celiac disease.	has_symptom
+906a85d097d43be89faa9039f9dbd8eb5d7425f1	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow syndrome, @PHENOTYPICFEATURE$, tremor, @DISEASE$, central pontine myelinolysis, alcoholic amblyopia, alcoholic cerebellar degeneration cerebral atrophy, alterations of personality in chronic alcoholics, alcoholic polyneuropathy.	has_symptom
+dc75c5089c4dc959896690a36b40c752867898df	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow @DISEASE$, seizures, tremor, Marchiafava-Bignami disease, central pontine myelinolysis, alcoholic amblyopia, alcoholic cerebellar degeneration @PHENOTYPICFEATURE$, alterations of personality in chronic alcoholics, alcoholic polyneuropathy.	false
+3e48c49ddcf30eebbd3e93815de16c1aed370eb7	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow syndrome, @DISEASE$, tremor, Marchiafava-Bignami disease, central pontine myelinolysis, alcoholic amblyopia, alcoholic cerebellar degeneration @PHENOTYPICFEATURE$, alterations of personality in chronic alcoholics, alcoholic polyneuropathy.	false
+2d3635dcaba4ec053389391c41623ede01505595	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow syndrome, seizures, tremor, Marchiafava-Bignami disease, central pontine myelinolysis, alcoholic amblyopia, alcoholic cerebellar degeneration @PHENOTYPICFEATURE$, alterations of personality in chronic alcoholics, @DISEASE$.	false
+bca5244919576428e778a04f273917c772789cee	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow syndrome, seizures, tremor, Marchiafava-Bignami disease, central pontine myelinolysis, alcoholic amblyopia, alcoholic @DISEASE$ @PHENOTYPICFEATURE$, alterations of personality in chronic alcoholics, alcoholic polyneuropathy.	false
+d1275430314bcfc943c7de86726804b28f7671ea	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow syndrome, seizures, tremor, @DISEASE$, central pontine myelinolysis, alcoholic amblyopia, alcoholic cerebellar degeneration @PHENOTYPICFEATURE$, alterations of personality in chronic alcoholics, alcoholic polyneuropathy.	false
+4f8013dce64ac08446b75f78238a9f676361f680	Nonunion of the humeral shaft in patients with antiepileptic drug associated @DISEASE$ constitute a challenging surgical problem difficult to treat due to @PHENOTYPICFEATURE$ activity, osteoporosis, and poor stabilization options.	has_symptom
+62ce879c0414a35a611c83e497cff151655324ad	An OVID MEDLINE literature search was conducted for 1965 to 1997 using the following key words/phrases and cross referencing: epilepsy/ @PHENOTYPICFEATURE$ and pregnancy, anticonvulsants, antiepileptic drugs (AEDs), teratogenesis, oral contraceptives, birth defects, folate/folic acid, vitamin K, @DISEASE$, and breast-feeding.	has_symptom
+0b6ad6ebd0dacec2162197c4f8acafebbf47b3a4	@DISEASE$, a rare alcohol-related disorder, characterized by altered mental status, @PHENOTYPICFEATURE$, and multifocal central nervous system signs, which results from progressive demyelination and necrosis of corpus callosum.	has_symptom
+075eb6fc02a3a808e8a7cf39718a9e3eff97a626	It is quite distinct from alcohol withdrawal syndromes, such as delirium, withdrawal @PHENOTYPICFEATURE$ or CNS complications of alcohol, such as Wernicke-Korsakow syndrome, central pontine myelinolysis or @DISEASE$, and was proposed in 1981 by Niedermeyer and coworkers.	has_symptom
+1d407e9ff203ea90b28d6dcd82ef23e7f7a23621	We studied a 5-year-old boy with mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis and strokelike episodes that are characteristic of the @DISEASE$.	has_symptom
+2d76fbdecdde43e5e091af8a913b6656c32a044b	@DISEASE$ is a rare disorder of mitochondrial energy production, and is an acronym for myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke-like episodes.	has_symptom
+15451745cc817b41c239e9913967a33c68985b22	The presence of myopathy, @PHENOTYPICFEATURE$, lactic acidosis and stroke episode allows for the diagnosis of @DISEASE$, proven by a specific point mutation in mitochondrial DNA.	has_symptom
+089f64486495984ba80ca6e8abdc85774c67cdd8	The clinical course of @DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) is described in five cases.	has_symptom
+fd728b563619d84a1c0248aaecbef4bab00a989f	Muscle biopsy specimens from two patients with @DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes) were studied biochemically.	has_symptom
+49357a6705264ab7886cdbee821661777b19ac43	@DISEASE$ is a distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke-like episodes.	has_symptom
+c5b1db9c9ba9548191e9756227da0b80aabacead	This mutation can also cause @DISEASE$ (which encompasses mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression.	has_symptom
+ee6b34bee9ccf4d4eab66e622299b30543d51400	@DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) is a rare, multisystem disorder which belongs to a group of mitochondrial metabolic diseases.	has_symptom
+88fa56bda440341223ba88bb8ad4f0c59233e506	The female twin had an incomplete form of @DISEASE$ (myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes) with severe myopathy, epileptic seizures without strokelike episodes.	has_symptom
+acf3e268d9253ea9b56faee4b11152cfaf4c3248	The female twin had an incomplete form of MELAS syndrome (myopathy, @DISEASE$, lactic acidosis, and strokelike episodes) with severe myopathy, @PHENOTYPICFEATURE$ without strokelike episodes.	false
+c33c7a689f1d910495a3445ea160ddeb21aceaf4	The female twin had an incomplete form of @DISEASE$ (myopathy, encephalopathy, lactic acidosis, and strokelike episodes) with severe myopathy, @PHENOTYPICFEATURE$ without strokelike episodes.	false
+a59057a5f904175ce8503512c3e0ba397cd8a33a	The female twin had an incomplete form of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and strokelike episodes) with severe @DISEASE$, @PHENOTYPICFEATURE$ without strokelike episodes.	false
+b5a2d98bb8cc79b589c9edbfa1206aec24ad801c	The female twin had an incomplete form of MELAS syndrome (@DISEASE$, encephalopathy, lactic acidosis, and strokelike episodes) with severe myopathy, @PHENOTYPICFEATURE$ without strokelike episodes.	false
+7aab691ec874a384876f58a8b665e594bee3139c	Thirty-five patients had MIDD, 8 were asymptomatic children of MIDD patients, and 3 had @DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes).	has_symptom
+7a2174635151506261c1293bbfcffc7188257083	@DISEASE$ (CV) involving small- and medium-sized vessels is very frequently associated with hepatitis C virus and may be responsible for multiple organ involvement and @PHENOTYPICFEATURE$ (SU).	has_symptom
+799c895dbfce106a7f94c32423d772319e697881	@DISEASE$ presenting as acute dysarthria and @PHENOTYPICFEATURE$.	has_symptom
+edea936823f16beb89f0d814a8b0955bca305e5a	@DISEASE$ is a rare multi-systemic autosomal recessive condition characterized by variable post natal growth failure, neurological impairment, feeding difficulty, and progressive skin, ophthalmological, auditory and @PHENOTYPICFEATURE$.	has_symptom
+59f76909bf19925047ac66e184bd57045e27e79b	@DISEASE$ CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	has_symptom
+3df81605d3a5474a270634c7d1a707899417cece	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and @DISEASE$.	false
+ea5a99fa2b84eefd2933d3a23f7ee308ee163d4e	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive @DISEASE$ caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+ddc062e85d26bfe1c3d9b32b9e1eb97c1c3fbe14	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral @DISEASE$, microcephaly, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+2f011d0d102f43dc75ba2f6d255369d7f2ce006d	@DISEASE$ CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+8a626da86e7b87df9f56e7af61ec0607c4947fdf	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, @DISEASE$, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+df19edaa5a43f3c52e5cc1deb69bf771d520111c	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary @DISEASE$, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+a347cd5e72cb3eedda6ffef7cdff9e1cb1c907c3	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive @DISEASE$ retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+02fbb44c2c3f69954feae74cc5c62874bae28663	Patient 4. Male with a history of postnatal @PHENOTYPICFEATURE$ showing microphallus and clinical features of severe @DISEASE$.	has_symptom
+1e3ec3e65dc33d9f28652435b875cc0e102fd57c	The diagnosis of @DISEASE$ must be based on clinical grounds, especially when @PHENOTYPICFEATURE$, prolonged jaundice, micropenis or midline alterations are found in the neonatal period.	has_symptom
+33a7c3bc27914e23d48e62938c28d8f8da8ce9e2	Several clinical conditions such as insulinomas, non-insulinoma pancreatogenous @PHENOTYPICFEATURE$ syndrome, insulin autoimmune syndrome, postprandial hypoglycemia (reactive hypoglycemia), non-islet cell tumor hypoglycemia, primary adrenal insufficiency, @DISEASE$, and critical illness can be associated with spontaneous hypoglycemia.	has_symptom
+5c25d5be5a73301de9f11f8bd80e42f40a2cc2d2	Several clinical conditions such as insulinomas, non-insulinoma pancreatogenous hypoglycemia syndrome, insulin autoimmune syndrome, postprandial hypoglycemia (reactive hypoglycemia), non-islet cell tumor hypoglycemia, primary adrenal insufficiency, @DISEASE$, and critical illness can be associated with spontaneous @PHENOTYPICFEATURE$.	has_symptom
+9930d9068e98c2462ff8fd794df65c0517f9725b	Several clinical conditions such as insulinomas, non-insulinoma pancreatogenous hypoglycemia syndrome, insulin autoimmune syndrome, postprandial hypoglycemia (reactive hypoglycemia), non-islet cell tumor @PHENOTYPICFEATURE$, primary adrenal insufficiency, @DISEASE$, and critical illness can be associated with spontaneous hypoglycemia.	has_symptom
+492306c71a59813ad789539a80ae8f2d9ede2cda	These are @DISEASE$, Laron dwarfism, leprechaunism, liver disease, primary hypothyroidism, extrapancreatic tumor @PHENOTYPICFEATURE$ and severe insulin deficiency in experimental animals.	has_symptom
+d633b7e3684432f39b222de7bf21e5c2c6328cd5	These are @DISEASE$, Laron dwarfism, leprechaunism, liver disease, primary hypothyroidism, extrapancreatic @PHENOTYPICFEATURE$ hypoglycemia and severe insulin deficiency in experimental animals.	false
+e4fefd65d8fc4297477d7aae9aa27d115851f7a5	These are hypopituitarism, Laron dwarfism, leprechaunism, @DISEASE$, primary hypothyroidism, extrapancreatic @PHENOTYPICFEATURE$ hypoglycemia and severe insulin deficiency in experimental animals.	false
+0c58be27fd66365b5f2b28c956154cc384f335b9	These are hypopituitarism, Laron dwarfism, leprechaunism, liver disease, primary @DISEASE$, extrapancreatic @PHENOTYPICFEATURE$ hypoglycemia and severe insulin deficiency in experimental animals.	false
+2970e14d8989d09061959d05192a7f6bc775b03e	These are hypopituitarism, Laron dwarfism, leprechaunism, liver disease, primary hypothyroidism, extrapancreatic @PHENOTYPICFEATURE$ @DISEASE$ and severe insulin deficiency in experimental animals.	false
+6e83ffc3dd5f564afd6e12ea000c42486733b3be	We report a female infant who presented with persistent poor feeding, episodic borderline @PHENOTYPICFEATURE$ and prolonged unconjugated hyperbilirubinemia; investigation revealed @DISEASE$.	has_symptom
+4eef1d3258cd4550a4d2a18eda7b8d36f4afcd9e	Prolonged or cholestatic jaundice associated with neonatal @PHENOTYPICFEATURE$ is highly likely to be due to @DISEASE$ or primary adrenal insufficiency.	has_symptom
+99bb03c7861d71f2b526460c732344010f216e1b	MRI scans should be obtained in any child with multiple @DISEASE$, @PHENOTYPICFEATURE$, ophthalmologic anomalies, low-stimulated GH, or acquired growth failure.	has_symptom
+7f74c42d6fe9d26fe6199ec4c7f17111bbfc1180	Neonatal @DISEASE$ presenting with poor feeding, @PHENOTYPICFEATURE$ and prolonged unconjugated hyperbilirubinemia.	has_symptom
+b1e52f7911ef8af997de9a5778904629ffaa761a	Severe @PHENOTYPICFEATURE$ and hyponatremia caused by @DISEASE$ in a female patient with type 1 diabetes: A case report.	has_symptom
+f8cbe932e989ca2bb1f7d2c946ffb47979ef8541	Evaluation of single-dose metyrapone tests in children with @DISEASE$; comparison with the prolonged metyrapone and insulin induced @PHENOTYPICFEATURE$ tests and their relationship with the etiology of hypopituitarism.	has_symptom
+92f793476df6b70fc5fb6b37e23b5ce10dc73687	Evaluation of single-dose metyrapone tests in children with hypopituitarism; comparison with the prolonged metyrapone and insulin induced @PHENOTYPICFEATURE$ tests and their relationship with the etiology of @DISEASE$.	has_symptom
+32e2a13ef38e6e242e3355d1578f7d8f4ada210f	@DISEASE$ in an adult with renal failure, livedo reticularis, retinopathy, and @PHENOTYPICFEATURE$.	has_symptom
+eade529440e64bbd44667a059caf50041a13c27f	@DISEASE$ in an adult with @PHENOTYPICFEATURE$, livedo reticularis, retinopathy, and peripheral neuropathy.	false
+3ff8768103620b278077dfd21e85976001033d97	Primary hyperoxaluria in an adult with @PHENOTYPICFEATURE$, livedo reticularis, retinopathy, and @DISEASE$.	false
+2e05ffe87c6cb4d0ddaeb34cb10fe18f560aa6a1	@PHENOTYPICFEATURE$ complicating @DISEASE$.	has_symptom
+21e3309f62efc284f25b267a4d3e53dbc9736370	@DISEASE$ is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and @PHENOTYPICFEATURE$.	has_symptom
+6dcbf683ec1cacf102a4f1052479d43ab529a210	Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with @DISEASE$, including @PHENOTYPICFEATURE$, macrosomia, asymmetry and mental retardation.	false
+de8fdb88ff667806655dbe44b9daab72b3125170	@DISEASE$ is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including @PHENOTYPICFEATURE$, macrosomia, asymmetry and mental retardation.	false
+714807209b2bf2fcc3b43e4bc39977701d4e2809	Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including @PHENOTYPICFEATURE$, macrosomia, asymmetry and @DISEASE$.	false
+feb74eb678f9bddc7b6fc6e45d3d3b902bce6c7d	This review is based on an online search in English, French and German language publications found in PubMed/Medline, up to 23 September 2016 using the following key word: Male infertility, @PHENOTYPICFEATURE$, @DISEASE$.	has_symptom
+108572954aafac35b6eaaa282db79a8f943d0844	Goldberg-@DISEASE$ is a rare autosomal recessive condition that describes the association of Hirschsprung disease with @PHENOTYPICFEATURE$, developmental delay and characteristic facies.	has_symptom
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	has_symptom
+b635333ebb78d6c0058209971385113a51e458ec	A consanguineous family with Hirschsprung disease, @DISEASE$, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	false
+0673b6fc20d6628f7ca746ec1f94ef6e416dbc3d	A consanguineous family with @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	false
+e2b67faaccc5dde9f5dbfa059bb145ed868a787a	A consanguineous family with Hirschsprung disease, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-@DISEASE$).	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	has_symptom
+5a079652e49a5e107d642f254d559ff03e145a4f	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+b336a121c37c9a248558390136d6a3484e38b034	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+1e7923f8ea15f5bc91b10737078a234f973396be	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1d549d7c2a466f9f0e8068bf2d0929fa592657b5	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+bce6f80da3447d5d4b8d2e0ef15f23f6e37ca551	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+bcb862adb6356c398bd7275ad9ce7e5ec7596bd3	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: @PHENOTYPICFEATURE$, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	has_symptom
+a6699b251e836b2b7389bd5ab8f9944e0102ab0b	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, @PHENOTYPICFEATURE$, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+ae1e422c3019259f59efe84cb240a2f16ffe88e5	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @DISEASE$, @PHENOTYPICFEATURE$, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+8ad080310350e016e6e0e1786e54c94680418c02	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched @DISEASE$, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+26bb7a214aed1ea0eb2f8ff5f3aeceffd0ab8ca9	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, micrognathia, high-arched palate, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+c04849d3a9627a202c117d2c03459a50e72b3570	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @DISEASE$, micrognathia, high-arched palate, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+78770e5028077c31e98f89396137522ac238928c	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+e71796eba0a2430cfeedcd92535257a782432ab8	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+e3f81b34b12449a6009bae7af3dbd8865a83072f	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, @PHENOTYPICFEATURE$, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+7726b6ba7420f94e4737baf57bd8f3fac706a2d0	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @DISEASE$, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+a5263cd04138cacc1007da0d44ddc7075ec15c8b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	has_symptom
+e26d694cce4b53aa933647b968feab308b659b1b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+530937628d6f520867187ef639950a99903d6a14	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly @DISEASE$ distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+ad556f63ab7e9d4cf8f567e13f114364af22d71b	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic @DISEASE$ characteristics.	false
+653e67e39d119b252be44b3b5b928153592c51d9	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple @DISEASE$ syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+df0993357acb191695c7685396e0bf7488e9ce3f	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic facial characteristics.	false
+b30be1e118f092e894c261bdfd0963119bb169a9	Magnetic resonance imaging abnormalities of the brain in Goldberg-@DISEASE$ (Hirschsprung disease, @PHENOTYPICFEATURE$, and iris coloboma)	has_symptom
+1d3aa47f2f895361ccae2f918e46bd287771d418	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by intellectual disability, @PHENOTYPICFEATURE$, and axonal neuropathy.	has_symptom
+e0185c36693d43e0141c69689de165347ae77134	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and axonal neuropathy.	false
+d186e319746b1b5f8b54c7277fe448b5bcffb537	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the @DISEASE$ Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	false
+045f20a6413fd06c457759fd2949cdd3cfc5fc68	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	false
+3cdf08c29751c6ef34e34373b8fd2ba125502ec2	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+2f376645ef6aecb53b3cc4988df5a092bdada0f4	The amount the sevoflurane-associated QT prolongation may possibly be of clinical significance in some patients presenting @DISEASE$, @PHENOTYPICFEATURE$, or in presence of other agents or factors that lengthen QT.	has_symptom
+0bacf02b87fb2329fdc40ac16b9a5995c393a90e	Studies were excluded if they reported acute overdoses of citalopram or did not report on patient-specific risk factors for @DISEASE$ (eg, @PHENOTYPICFEATURE$, bradycardia, and increased age).	has_symptom
+2979053f632063fdafb124485fd5c6e354171573	Recent FDA guidelines changes has recommended caution in patients with risk factors such as @DISEASE$, bradycardia, @PHENOTYPICFEATURE$, or hypomagnesemia.	has_symptom
+0d440548efe0323003c90c178dc570b8b6e5681a	This study reports a case of a 13-year-old male with a 3-year history of severe and intermittent @PHENOTYPICFEATURE$ episodes of unknown origin, requiring admission to the intensive care unit (ICU) for @DISEASE$ (LQTS), finally diagnosed of redistributive hypokalemia secondary to the abuse of ?-adrenergic agonists in the context of a probable factitious disorder.	has_symptom
+cfbff5f64706547a7cdd617b75a9a64b5a046646	Each report was analyzed for the presence of risk factors for TdP: female gender, heart disease, @PHENOTYPICFEATURE$, high doses of offending agent, concomitant use of a QT interval prolonging agent, and a history of @DISEASE$.	has_symptom
+9518e77d71b3d408b4b99f33673f8b9e7bd52e3f	We considered in detail bilastine, cetirizine, levocetirizine, ebastine, fexofenadine, loratadine, desloratadine, mizolastine and rupatadine and concluded that all these drugs have an excellent safety profile with no evidence of cardiotoxicity even when updosed up to four times their standard licensed dose, provided that the prescribers carefully consider and rule out potential risk factors for cardiotoxicity, such as the presence of inherited @DISEASE$, older age, cardiovascular disorders, @PHENOTYPICFEATURE$ and hypomagnesemia, or the use of drugs that either have direct QT prolonging effects or inhibit sgAH metabolism.	has_symptom
+d1df271010358bacc9c518ffe0390526c9b7bd70	We considered in detail bilastine, cetirizine, levocetirizine, ebastine, fexofenadine, loratadine, desloratadine, mizolastine and rupatadine and concluded that all these drugs have an excellent safety profile with no evidence of cardiotoxicity even when updosed up to four times their standard licensed dose, provided that the prescribers carefully consider and rule out potential risk factors for cardiotoxicity, such as the presence of inherited long QT syndrome, older age, cardiovascular disorders, @DISEASE$ and @PHENOTYPICFEATURE$, or the use of drugs that either have direct QT prolonging effects or inhibit sgAH metabolism.	false
+707a3029d46e4b5330db10f2375cb5b9e8dfe4b2	We considered in detail bilastine, cetirizine, levocetirizine, ebastine, fexofenadine, loratadine, desloratadine, mizolastine and rupatadine and concluded that all these drugs have an excellent safety profile with no evidence of cardiotoxicity even when updosed up to four times their standard licensed dose, provided that the prescribers carefully consider and rule out potential risk factors for cardiotoxicity, such as the presence of inherited @DISEASE$, older age, cardiovascular disorders, hypokalemia and @PHENOTYPICFEATURE$, or the use of drugs that either have direct QT prolonging effects or inhibit sgAH metabolism.	false
+f677d7660006dcadcf6d182a9509c21a07ad3634	It is important to be aware of their existence, because the correct diagnosis is essential for prognostication and treatment and, in the case of facial segmental lesions, the direction of further investigations if PHACE (posterior fossa abnormalities and other structural brain abnormalities; hemangioma(s) of the cervical facial region; arterial cerebrovascular anomalies; cardiac defects, aortic coarctation, and other aortic @PHENOTYPICFEATURE$ anomalies) syndrome or @DISEASE$ is suspected.	has_symptom
+7506b591a7b55d85ec633bd29b804ca83ebe9ff3	Among this clinical complexity, vocal cord abductor paralysis in SCA1, familial parkinsonism in SCA2, @PHENOTYPICFEATURE$ and axonal neuropathy in @DISEASE$, and axial myoclonus in SCA14, are reviewed for potential usefulness in clinical practice.	has_symptom
+c62337e531ebbf12cfd08d69ac59d01c1080ed54	Early @PHENOTYPICFEATURE$ in @DISEASE$ detected by caloric test.	has_symptom
+c75b4834d7695b6d0d82ec53527b28b335eb6a6c	@PHENOTYPICFEATURE$ is known to be a symptom of @DISEASE$, but little is known about precisely when the vestibular system becomes impaired.	has_symptom
+0141d76f6574ff08616a0deb3992155b77246bb9	These results suggest that @PHENOTYPICFEATURE$ is a symptom that develops very early in @DISEASE$ and may contribute to unsteady gait as the initial symptom.	has_symptom
+02bfe282c7e6511d0d49cdc41cdf10beac68970d	Patients with @DISEASE$ suffer severe neurological disability and @PHENOTYPICFEATURE$.	has_symptom
+c8f01a11a6c4a44dfad81f96544405d87686e335	We conclude that @DISEASE$ is a neurodevelopmental disorder with consistent features of profound intellectual disability, choreoathetosis, and @PHENOTYPICFEATURE$.	has_symptom
+2ff71aec4778d9f05425a96b90806b8ed0b5fd12	We conclude that GM3 synthase deficiency is a neurodevelopmental disorder with consistent features of profound @PHENOTYPICFEATURE$, choreoathetosis, and @DISEASE$.	false
+30c3b901f41d126178703f92ccf65fe58e949609	We conclude that @DISEASE$ is a neurodevelopmental disorder with consistent features of profound @PHENOTYPICFEATURE$, choreoathetosis, and deafness.	false
+0eb3225267495e7127c165481d7a9ff6612c2e4a	@DISEASE$ (HyperPP) is a hereditary disorder characterized by alternate episodic attacks of muscle weakness and muscle @PHENOTYPICFEATURE$.	has_symptom
+1823b48d554859decca44299be40fd847adb814a	@PHENOTYPICFEATURE$ manifests in several hereditary diseases, including @DISEASE$ (HyperPP), paramyotonia congenita (PMC), and potassium-aggravated myotonia (PAM).	has_symptom
+fcf2dc422fffe3e232f2fde9101ad119d03dc31d	@DISEASE$ should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and @PHENOTYPICFEATURE$.	has_symptom
+b852ee6ff3559599e10994461ceb58c348504a95	@DISEASE$ should be considered in differential diagnosis of any infant with pancytopenia, @PHENOTYPICFEATURE$, diarrhea, and vomiting.	false
+688173f2d64c8fab3a87edfe306f75992685ad62	Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, @PHENOTYPICFEATURE$, @DISEASE$, and vomiting.	false
+76ae9850ca0ffcfc54dd1ac6986ca0d01b4d1f01	Transcobalamin II deficiency should be considered in differential diagnosis of any infant with @DISEASE$, @PHENOTYPICFEATURE$, diarrhea, and vomiting.	false
+bbb8aa55ba24bc8d1a064f61bd32f9faa5dfce73	Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, @PHENOTYPICFEATURE$, diarrhea, and @DISEASE$.	false
+17790ad1e7ca3d3bac2bc09f2d7351a5eec51427	The propositus in our report presented with multiple congenital anomalies including @PHENOTYPICFEATURE$, cleft palate, congenital heart defect with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and @DISEASE$.	has_symptom
+002be6e2449e044f184669afbb279c9b6a2ed2a3	The propositus in our report presented with multiple @DISEASE$ including micrognathia, @PHENOTYPICFEATURE$, congenital heart defect with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and gonadal dysgenesis.	false
+597d9a7752463a2535c77922e7ce0544ac24ee2c	The propositus in our report presented with multiple congenital anomalies including @DISEASE$, @PHENOTYPICFEATURE$, congenital heart defect with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and gonadal dysgenesis.	false
+5229964a35981e4ca1e725bdc5b247e19ba56b5e	The propositus in our report presented with multiple @DISEASE$ including micrognathia, cleft palate, @PHENOTYPICFEATURE$ with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and gonadal dysgenesis.	false
+a5135accfa592a193867582812eed14e9648a9e8	The propositus in our report presented with multiple congenital anomalies including micrognathia, @PHENOTYPICFEATURE$, congenital heart defect with D-transposition, double outlet right ventricle, PFO, @DISEASE$, PDA and pulmonary valve stenosis and gonadal dysgenesis.	false
+545dba15e806dfd00b2a4a27a4c4dfe023a4507a	The propositus in our report presented with multiple congenital anomalies including micrognathia, cleft palate, @PHENOTYPICFEATURE$ with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and @DISEASE$.	false
+3f3b28c17ef7ed22c2843cabd68bb0a1644f6b77	The propositus in our report presented with multiple congenital anomalies including micrognathia, cleft palate, @PHENOTYPICFEATURE$ with D-transposition, double outlet right ventricle, PFO, @DISEASE$, PDA and pulmonary valve stenosis and gonadal dysgenesis.	false
+2f2be509ed161eaa78775de997385d9453c0eccf	The propositus in our report presented with multiple congenital anomalies including micrognathia, @PHENOTYPICFEATURE$, congenital heart defect with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and @DISEASE$.	false
+253fe58deaeee001791db48271f8c485c8896c30	The propositus in our report presented with multiple congenital anomalies including @DISEASE$, cleft palate, @PHENOTYPICFEATURE$ with D-transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and gonadal dysgenesis.	false
+53ee58d119a0e279e5b3488630228bdba659bcd3	@DISEASE$ is characterized by short stature and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, @PHENOTYPICFEATURE$, cubitus valgus, high-arched palate, short metacarpals and Madelung deformity.	has_symptom
+518b4c44ca6de958670c39dfd52d306471b9bcf5	Turner syndrome is characterized by @PHENOTYPICFEATURE$ and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, @DISEASE$, cubitus valgus, high-arched palate, short metacarpals and Madelung deformity.	false
+69bdf3c59a9971e8a27335eeafa50236ccda6ce8	Turner syndrome is characterized by @PHENOTYPICFEATURE$ and is frequently associated with a variable spectrum of somatic features including @DISEASE$, heart and renal abnormalities, micrognathia, cubitus valgus, high-arched palate, short metacarpals and Madelung deformity.	false
+927fcdc5f280c6e8f151fac9a6afa8c33defdc22	Turner syndrome is characterized by @PHENOTYPICFEATURE$ and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, micrognathia, cubitus valgus, high-arched palate, short metacarpals and @DISEASE$.	false
+b1b60b4fcb10b9dca4519c2699c9d7b449e4de14	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, micrognathia, cubitus valgus, high-arched palate, short metacarpals and Madelung deformity.	false
+47225247f27a2badfc79914d01bc731cfc7289a5	Turner syndrome is characterized by @PHENOTYPICFEATURE$ and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, micrognathia, cubitus valgus, high-arched @DISEASE$, short metacarpals and Madelung deformity.	false
+d71de9edf06214f857dfa63258486e7013eb8082	@DISEASE$: A rare cause of @PHENOTYPICFEATURE$ and quadriparesis.	has_symptom
+0b79c4a42ffb0431942df8e1fd8873a84785e19b	Both of them presented tetanic @PHENOTYPICFEATURE$ in the course of @DISEASE$ and they were regarded as one of various manifestations of the syndrome.	has_symptom
+35b5e71f968b537ef531dea34aabb83900c76971	We report a hypertrophic pyloric stenosis case with an unusual initial presentation of @PHENOTYPICFEATURE$ and @DISEASE$ like symptoms.	has_symptom
+75bcf9c85f1fd72f78199ed47caa276582ee1fd9	@DISEASE$ (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, @PHENOTYPICFEATURE$ and other congenital malformations.	has_symptom
+33d5cee25ac4893a10fab4a14b57f245dd2e3e30	Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe @PHENOTYPICFEATURE$, corpus callosum abnormalities and other @DISEASE$.	false
+b5654349f015f1a8f567dd51eb269b6a7bfc0676	Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe @PHENOTYPICFEATURE$, @DISEASE$ and other congenital malformations.	false
+5e2b8b3ef0790d242d3d1bee51b12f57d597a221	@DISEASE$ (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe @PHENOTYPICFEATURE$, corpus callosum abnormalities and other congenital malformations.	false
+6f8dde39702e371491dd18827cf0bebb7ceae772	@DISEASE$ is characterized by marked psychomotor retardation, and prominent cerebellar dysfunction manifested by nystagmus, intention tremor, dysarthric speech, and an @PHENOTYPICFEATURE$.	has_symptom
+18dcf27af082f8e51988631e9c6186d8d35d3fde	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, @PHENOTYPICFEATURE$ and urinary tract anomalies.	has_symptom
+b65f596da292bb78832c3bd5df4e6a937cba2518	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and @DISEASE$ such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+07e49e1aee5d6f5606fbea3278342025036c30ae	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @PHENOTYPICFEATURE$, @DISEASE$ and urinary tract anomalies.	false
+a383299c925fb254c1ec3cc7d23fc33ebb8a3344	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @PHENOTYPICFEATURE$, corpus callosum agenesis and urinary tract anomalies.	false
+f7696f2a9a7c375498442887ae0631989cc0e0f6	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+95b708ece72ddeda3d2bada6f5215849c9b1712b	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+708562a85aadc66dc7b3a3b3aebaf018414cc877	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+1a1b7bbfcbc861e668eef0653c73f3a5c30ed671	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability @DISEASE$ characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+dc16011dd9a08ba9b63820ff45d41aba9ef3f344	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+9c7461707eb12536fc3fe0700e4ffa82befe7992	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and @DISEASE$ such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+021f31b2d891b169645989bb6687f2d2ac8a6b83	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+904d3f5428550e902027eb4c0a46a321cc1de952	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, @PHENOTYPICFEATURE$, corpus callosum agenesis and urinary tract anomalies.	false
+7bdb682d205d7bf1848a913062baf3d4639d97bb	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and @DISEASE$ such as Hirschsprung disease, @PHENOTYPICFEATURE$, corpus callosum agenesis and urinary tract anomalies.	false
+83021ee06e374b224605a394d7be0963a36d0010	@DISEASE$ (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+0dfcd942b2037f654675bf34a00609f8311d533b	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, @DISEASE$ and urinary tract anomalies.	false
+f6e91c4a06fa6b9c99f43e79acf3fb583e43b58a	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability @DISEASE$ characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @PHENOTYPICFEATURE$, corpus callosum agenesis and urinary tract anomalies.	false
+d9d368b01042f1aeab499bd4dc01192e4e1bc2e8	Mutations in the human SIP1 gene have been implicated in @DISEASE$ (MWS), characterized by severe mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+8ca53c663f7d1229837b19bcb6b8a7930ab0c651	Mutations in the human SIP1 gene have been implicated in @DISEASE$ (MWS), characterized by @PHENOTYPICFEATURE$ and agenesis of the corpus callosum.	false
+5a95d3dac9ac7820ad475f8ff923ce9132e37f7f	Mutations in the human SIP1 gene have been implicated in Mowat-Wilson syndrome (MWS), characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+21a554e66aa9628e329044cdd1a0081acae269ec	@DISEASE$ (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and congenital heart disease.	has_symptom
+6c8cae737f9727a395d5c230de7d4de9fe420501	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including @DISEASE$ (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+a626693d447215994889b585ce5ec1062fe36131	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ @DISEASE$ associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+246e7098c1514ae45a74f5f5bb03633703934960	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @DISEASE$, genitourinary abnormalities, and congenital heart disease.	false
+3d547839a8c98691e9c66803dfcfe0de2581fe90	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of congenital anomalies, including @DISEASE$ (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+108d633263e88b8bcab358e9c34dd5f4ac4a0945	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of @DISEASE$, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+e3a5fe99abfc389f6ffa83aef50bc7f00ab1d751	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of @DISEASE$, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+2302754eaa3864c137d3053087653bf5fd75c72a	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and @DISEASE$.	false
+813bf0edf4acbb2822139c746938d97b537144b2	@DISEASE$ (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+8be4b6d5a01acb30702d8f01003a5da5629b7dfb	@DISEASE$ (MWS) is a mental retardation syndrome associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+a95758556e69cf9d81c71dc83081079a62c51d12	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @DISEASE$, genitourinary abnormalities, and congenital heart disease.	false
+95bd05fb073eb06b604b1aec16a277d8cfb213c9	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and @DISEASE$.	false
+caa7435ed0a3a710e9973cb31b9655b8d13a7ab1	Mowat-Wilson syndrome (MWS) is a mental retardation @DISEASE$ associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+dc6de508821fe76e1826fb51c8603c846d31e210	Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+f30429998cc267ac2d3feac106097c4dd596d149	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, @PHENOTYPICFEATURE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	has_symptom
+38bee22acda5fe88623e9c7fa45d2ef2dda0b4d8	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+936d9cb322d83e14168ff6b7aed0b7e93407e709	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, @DISEASE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+0d150a5e94d90adb32fc4c0e96cb4b48cbd6ddc0	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple @DISEASE$ syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+65c184a23d56a92a81b5328fde23e271bbc14c49	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and @DISEASE$ (HSCR).	false
+e5871b2fb8dc43592eaddbef6aa81b8e8f6f6a17	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly @DISEASE$, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+adf8fff969d5b2d5d92789e6c4d9df64b7f9bd45	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @PHENOTYPICFEATURE$, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and @DISEASE$ (HSCR).	false
+6bd498b79d2d59c079858f222435edb309ea7b62	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly @DISEASE$, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+ee2e2173a321adc75bfae3cd0afc9392d12414f5	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+ecea6fe91482928f1f78c296c552a9810320a812	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and @DISEASE$ (HSCR).	false
+b4560ba8ad63ff758a02bce9608d0aec2cf74aa5	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @PHENOTYPICFEATURE$, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+f000af195aad2ff9c553357f2b69441049ff73b0	@DISEASE$ (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+be33665ab030efa4582b7c235b8eae2cd756f447	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, @DISEASE$, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+e175b31e0f43c77e835b7cc6eaeb062b1eec6ee3	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple @DISEASE$ syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+43320db63711d08d7dfa44607326a707310877fb	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple @DISEASE$ syndrome, commonly associating @PHENOTYPICFEATURE$, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+4d48739cc0493c60984604471cd59fd736bec1db	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly @DISEASE$, commonly associating @PHENOTYPICFEATURE$, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+c0047f5bc18d84104fc621cc34bebdcd60f08052	@DISEASE$ is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and @PHENOTYPICFEATURE$.	has_symptom
+5dfcb9450bc595a13b8b4aa5da6db42eb98270cc	Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly @DISEASE$ characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+d2f77e9dd9d06cdd55b729e6e0607347aedd7ef5	Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+8aa8132938b45826ace7c489f44469b16244c8f3	Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable @DISEASE$, including Hirschsprung disease, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+f5bf80cc03b81b8e4857f935475b1d4235191d4a	Mowat-Wilson syndrome is a @PHENOTYPICFEATURE$-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and @DISEASE$.	false
+49433361f551e35c988340ca86636f0884c18fcd	@DISEASE$ is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+0f88a3b607515cf5f13212118f2d29ad73fe5b0e	Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, @PHENOTYPICFEATURE$, congenital heart disease, and @DISEASE$.	false
+b4cb7b0a125fbef7cbc270fe914b03c71a008179	Mowat-Wilson syndrome is a mental retardation-multiple @DISEASE$ syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+8778a6f1f92acd98f55b1797089930dd65a6d26b	@DISEASE$ is a @PHENOTYPICFEATURE$-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum.	false
+a33a15c7585fe9e5dec641878aaaf5b67b6ae696	Mowat-Wilson syndrome is a @PHENOTYPICFEATURE$-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including @DISEASE$, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum.	false
+a11bd81ed34f4b937daf00bdf8840420ac29491f	Mowat-Wilson syndrome is a @PHENOTYPICFEATURE$-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable @DISEASE$, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum.	false
+65a7e560e9f194995c608ee28d64e99e89f5f888	Mowat-Wilson syndrome is a @PHENOTYPICFEATURE$-multiple @DISEASE$ syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum.	false
+2538f1e1f038807d2c102e24a3bfa6e68d09fa48	Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, @PHENOTYPICFEATURE$, @DISEASE$, and agenesis of the corpus callosum.	false
+65f029b0100302abc5c401e2b085c00e68f32f3b	Mowat-Wilson syndrome is a @PHENOTYPICFEATURE$-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, @DISEASE$, and agenesis of the corpus callosum.	false
+f38bd73d1fea0095416c3d05f2c554ff46b61206	Mowat-Wilson syndrome is a @PHENOTYPICFEATURE$-multiple congenital anomaly @DISEASE$ characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum.	false
+2da5b70df189e206a2136a1eaebe1012e0653b62	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	has_symptom
+17732fa5b078fa7f1d4266be627efbd801d5d8dd	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+1d658147757ba2181d0ee29e3bb546b5f4e8fbe9	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+fa98902e495690acfd67418592c238867d86bbf4	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+2a3ec3375ecb6ecba1077229116866969e353af2	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @DISEASE$, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+74e69243888eb85127beb26871ad7dbf0f1e2077	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+4e8470a8281cde6ea9c8391989f405adff3acf65	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+ebf77c518f47708dc42c884e654b9d97642f8208	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+dfcfc96db93dc1779201666e703cccf67cd0eecc	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+1a1178b8b0e42fdef147073997ab855177c091b5	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+765883cf947d5f436e5f0d6bf64123c43c92d4d8	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+07eb1a21d32df5b3deff9ef596b259c09c69d4be	We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, @PHENOTYPICFEATURE$ and mental retardation (@DISEASE$).	has_symptom
+4a2cacd1012802979a88357ec33d1f0185e8dd83	We report a girl who had @DISEASE$ in association with distinct facial appearance, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation (Mowat-Wilson syndrome).	false
+95a603077a3ce326fbd23ddcf4b419509d4a7a0c	We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, @DISEASE$ and @PHENOTYPICFEATURE$ (Mowat-Wilson syndrome).	false
+2319adfb8ba09e00756a47feb381feeaa3cc08b7	We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+234e417a25e0b4fbec67a095a8596c753ae63541	We report a girl who had @DISEASE$ in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and @PHENOTYPICFEATURE$ (Mowat-Wilson syndrome).	false
+fc60630372daac303d8d2e8aa7098b0301257bd2	We report a girl who had Hirschsprung disease in association with distinct facial appearance, @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation (Mowat-Wilson syndrome).	false
+8ddddc60d36c3ec556eb3f7415a1653a996cfc59	We report a girl who had Hirschsprung disease in association with distinct facial appearance, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation (@DISEASE$).	false
+3f4685cd9e6e083b56b1ab803c0f1011b329f237	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	has_symptom
+4089c3878c89912dbe85cc6e01e08cab07f9306a	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+579959eab50e06d17131b4f32f036a7ff4255998	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @DISEASE$, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+0c915ba6a21d1d71056c1da5d42d9f535efbe699	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+5bbd8a59072b11d5d675ffbdcfbb72b9ca773ad3	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a5a61712b98851fd4a823efd78ec016b9887bcdd	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+4a371e302880e82102954e9f044308de7d4fd93d	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+2e1638b22c3ee0b739be75b9a33e198d51a66b32	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, @DISEASE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+5e925c8f11b7a0351e1cd62d5f54046c8bbe4c5f	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+1fd259d10ddbf08a006d65258081c25fa1cd5c93	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+2fd11bca605828e0bf07a7ff6ad88ce153503b62	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+806ec5cfc6ceaa03ec7c4aa48ee4934541889e90	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+b5eac832cbb5f89e6ab09f165a19e9e017ddaee7	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+999b13b9a356f677f27d829b4a19b10dc9bfafb9	@DISEASE$ (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @PHENOTYPICFEATURE$ and eye defects.	has_symptom
+c4b626118732c29d60bdbb95ae9c010ee7876e66	@DISEASE$ (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+be2c75b9b3757011dbb834269bdcc0b3ff45ae90	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+0a2b2d99136ece20134756aa33dff51bd4ccc7fc	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+6c12001b9c02981d61114fd42a472d96eaba8748	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+2c4ea62d2fa167a065432857bf38e2fb702c93b5	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, @DISEASE$ and eye defects.	false
+b8919203690d10f3d2205497e1e19aed5f29ca94	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+fd73e0b66f0d2faf8dab12d8afff1ddff1ad63c3	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @DISEASE$ and eye defects.	false
+6867aea179b2f2de9367fbf418986982d3191ac3	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+5a3bd38838b5f46f75573aaf8e5889d6210d0402	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+0cf662a951edee013ebba4894408a7e04772a94d	@DISEASE$ (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+3a3d9bc3891cee9560214b024a7c461693139f98	1) A three generations family (44 live born individuals) was investigated concerning the occurrence of @DISEASE$. 2) Diagnosis was established with clinical data on skin @PHENOTYPICFEATURE$, bleeding diathesis and ligamentary laxity, especially of the small joints.	has_symptom
+ba4d0dcb9f299ba730cc04790441f65f642df481	A 17-year-old man presented with @PHENOTYPICFEATURE$ and sore throat, associated with @DISEASE$, of 6 days' duration.	has_symptom
+f1021d08291dd17a75a8f7e5710758d31eaedaf4	All of the 16 children (41%) who developed hypersensitivity features, such as skin rashes, @PHENOTYPICFEATURE$, lymphadenopathy, and/or eosinophilia, including the 3 with @DISEASE$, survived.	has_symptom
+3435269efd373e477b5b6c67c227dc2915bc531c	Erythema multiforme with @PHENOTYPICFEATURE$; @DISEASE$.	has_symptom
+40d2d7e3016ce280f38f446a5639393900d45903	@DISEASE$ is a severe disease which is characterized by @PHENOTYPICFEATURE$ and mucocutaneous lesions.	has_symptom
+e4a7e1ab48205f2d28efb677fd7fcfdd11d37451	@DISEASE$ (SJS) is a disease that causes skin exfoliative lesions, characterized by @PHENOTYPICFEATURE$, necrosis, and epidermal detachment.	has_symptom
+e5ff84d15a98c04ce5a1ec98895cba04b43f9442	Life-threatening dermatologic conditions include Rocky Mountain spotted @PHENOTYPICFEATURE$; necrotizing fasciitis; toxic epidermal necrolysis; and @DISEASE$.	has_symptom
+836b62a4a58c7bbd72db7626049286f97215ed72	@DISEASE$ is a severe exfoliative dermatitis accompanied by @PHENOTYPICFEATURE$, inflammation of the gastrointestinal mucosa, and severe purulent conjunctivitis.	has_symptom
+69fc2bcb695909cea8bfdcf00eb1b0495bc60657	Although rare, @DISEASE$ should be considered in the differential diagnosis of a patient with a history of indapamide ingestion who presents with malaise, @PHENOTYPICFEATURE$, and skin eruptions.	has_symptom
+5f74aef661bed1efc4235c3d5c274820d80bb42f	[@DISEASE$: presentation of a case of @PHENOTYPICFEATURE$ and a rash].	has_symptom
+4af57a06621572e5e7bd45460bf6bdf8d1159f33	@DISEASE$ (14.3%), @PHENOTYPICFEATURE$ (4.8%), generalized exfoliative dermatitis (2.4%), toxic epidermal necrolysis (2.4%), vasculitis (2.4%) and agranulocytosis (2.4%).	has_symptom
+c71d36b5a850f18ee1a35232e5884ca022c62aaa	@PHENOTYPICFEATURE$ and nephrocalcinosis in the @DISEASE$.	has_symptom
+fc29f7fe43106277906e705e759acbf7837b6d08	These results provide a strong proof of concept for the clinical translation of our approach for the treatment of @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+c3f8b60384aaf031f56ef841c64fc3c035d0a24d	@DISEASE$ is a rare disorder which is clinically characterized by short stature, retarded speech development, @PHENOTYPICFEATURE$, triangular face, bulbous nose and thin lips.	has_symptom
+dacdb853a80130e1fb61a6694623ec435a128087	Floating-Harbor syndrome is a rare disorder which is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, @DISEASE$, triangular face, bulbous nose and thin lips.	false
+689864730c9f97772a69c83dd26669320e591b7e	@DISEASE$ is a rare disorder which is clinically characterized by short stature, retarded speech development, delayed bone ages, triangular face, bulbous nose and @PHENOTYPICFEATURE$.	false
+a1883a6a4d04536c47cb00472b594fdcadb49070	Floating-Harbor syndrome is a rare disorder which is clinically characterized by short stature, retarded speech development, @DISEASE$, triangular face, bulbous nose and @PHENOTYPICFEATURE$.	false
+b089ba379bb7275db03b08f2235d70dc85c81e8b	@DISEASE$ is a rare disorder which is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, delayed bone ages, triangular face, bulbous nose and thin lips.	false
+28150f45980b6cc820f7442585a2e106d27fefea	@DISEASE$ (FHS) is characterized by characteristic facial dysmorphism, short stature with @PHENOTYPICFEATURE$, and expressive language delay.	has_symptom
+eaab8b4bc58e7cffbdb2517d12f77a6ad54e66e8	Floating-Harbor syndrome (FHS) is characterized by characteristic @PHENOTYPICFEATURE$, short stature with @DISEASE$, and expressive language delay.	false
+a378713427d0670221f51570810ed6f1b01ff197	@DISEASE$ (FHS) is characterized by characteristic @PHENOTYPICFEATURE$, short stature with delayed bone age, and expressive language delay.	false
+c94c5d0fec65b7c43154ade073261507b6604631	Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, @PHENOTYPICFEATURE$ with @DISEASE$, and expressive language delay.	false
+8e6aa6523ebb4b2d0bea88f1075a83d6056155e5	@DISEASE$ (FHS) is characterized by characteristic facial dysmorphism, @PHENOTYPICFEATURE$ with delayed bone age, and expressive language delay.	false
+e36ac399c5f666a88b28b7170a15a178d96fa8b8	The @DISEASE$ (FHS) is clinically characterized by short stature, retarded speech development, @PHENOTYPICFEATURE$, typical facies, bulbous nose, wide columella, thin lips.	has_symptom
+ebdc215f2a338445e72b0b69e6d4f9437cb3e417	The @DISEASE$ (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, @PHENOTYPICFEATURE$.	false
+4dd3199607e91bcaff633b336dfd4a8f6b2f52e7	The Floating-Harbor syndrome (FHS) is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, @DISEASE$, typical facies, bulbous nose, wide columella, thin lips.	false
+068315ea2687060e88b3fea543dd56f9ef28a22c	The @DISEASE$ (FHS) is clinically characterized by @PHENOTYPICFEATURE$, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips.	false
+f490bb0f622051c4d4db8a7e159ebfa374a56418	The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, @DISEASE$, typical facies, bulbous nose, wide columella, @PHENOTYPICFEATURE$.	false
+6425a79a26cc3fee0d237fa0527a5336d67d5518	@DISEASE$ is a rare syndrome with short stature, severely @PHENOTYPICFEATURE$, typical facies and delay in expressive speech.	has_symptom
+732b573f1bf410fabcd4562b644ee2585eac0819	Floating-Harbor syndrome is a rare syndrome with @PHENOTYPICFEATURE$ @DISEASE$, typical facies and delay in expressive speech.	false
+f11399be942089aad32f3d9ec780b06a3f72a287	@DISEASE$ is a rare syndrome with @PHENOTYPICFEATURE$ delayed bone age, typical facies and delay in expressive speech.	false
+e9ba4644fadacd642c836a085197a144192e2b1b	@DISEASE$ (FHS) is a rare condition typified by short stature, speech impairment, @PHENOTYPICFEATURE$, and characteristic facies.	has_symptom
+5bf0da9dfbaad2ddf9c807a7480c736b44671696	Floating-Harbor syndrome (FHS) is a rare condition typified by short stature, @PHENOTYPICFEATURE$, @DISEASE$, and characteristic facies.	false
+f82b1a71d958130fd57b52a79a9f1fc5c26e59e7	@DISEASE$ (FHS) is a rare condition typified by short stature, @PHENOTYPICFEATURE$, delayed bone age, and characteristic facies.	false
+e7974cce3064e67817355d86bd0a20a7e751b541	Floating-Harbor syndrome (FHS) is a rare condition typified by @PHENOTYPICFEATURE$, speech impairment, @DISEASE$, and characteristic facies.	false
+b2b49619dc7e0f17d167c4906621563d7934928a	@DISEASE$ (FHS) is a rare condition typified by @PHENOTYPICFEATURE$, speech impairment, delayed bone age, and characteristic facies.	false
+062ee60d051eca6a780304bce761e2c060557b75	@DISEASE$ (FHS) is a rare disorder characterized by short stature, @PHENOTYPICFEATURE$, speech delay, and dysmorphic facial features.	has_symptom
+f02f379591508d98c275bd48242654ebff5b43df	Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, @PHENOTYPICFEATURE$, and dysmorphic @DISEASE$ features.	false
+9be030f6a583a49b3a5dfee81d2470b7ecc126f9	@DISEASE$ (FHS) is a rare disorder characterized by @PHENOTYPICFEATURE$, delayed bone age, speech delay, and dysmorphic facial features.	false
+4d2f2bdfdd3684bd8682d40e8dc540f4daab80de	Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, @DISEASE$, @PHENOTYPICFEATURE$, and dysmorphic facial features.	false
+e97fba3a2a9751f1aefd8f3375675264a129bcae	@DISEASE$ (FHS) is a rare disorder characterized by short stature, delayed bone age, @PHENOTYPICFEATURE$, and dysmorphic facial features.	false
+7a49cdcfbc68ce62574d3521dcb65ed1975cc84f	Floating-Harbor syndrome (FHS) is a rare disorder characterized by @PHENOTYPICFEATURE$, delayed bone age, speech delay, and dysmorphic @DISEASE$ features.	false
+f4cf218f0443101bee78f0945b9991ca85fead55	Floating-Harbor syndrome (FHS) is a rare disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, speech delay, and dysmorphic facial features.	false
+c088ef7b7bfe275d00de0cd8768a1af0debc3c9f	The @DISEASE$ is a growth retardation syndrome with @PHENOTYPICFEATURE$, speech development, and typical facial features.	has_symptom
+c3058b4654a270be4433ffcd1dcb7a7c40cc75ab	The Floating-Harbor syndrome is a @PHENOTYPICFEATURE$ syndrome with @DISEASE$, speech development, and typical facial features.	false
+c2eaf18c19a40d41d699f8a6894bdfc7c74cbe49	The @DISEASE$ is a @PHENOTYPICFEATURE$ syndrome with delayed bone age, speech development, and typical facial features.	false
+647529a2ebf7743e0f07398619a5547c7a6ff9ef	The Floating-Harbor syndrome is a @PHENOTYPICFEATURE$ syndrome with delayed bone age, speech development, and typical @DISEASE$ features.	false
+c408dfbee4c63c017f686d96669a194b8ac021a7	The Floating-Harbor syndrome is a @PHENOTYPICFEATURE$ @DISEASE$ with delayed bone age, speech development, and typical facial features.	false
+a07926469d9e280bf160903e0536a1c029b5a05f	@DISEASE$ is a rare condition marked by short stature and @PHENOTYPICFEATURE$, characteristic facial features, and speech impairment.	has_symptom
+f74b03d12375e0f963b9d2810640f807e2c48318	@DISEASE$ is a rare condition marked by @PHENOTYPICFEATURE$ and delayed bone age, characteristic facial features, and speech impairment.	false
+6843f78cfa51045b9ad1244f22721fcc42b5cdb3	@DISEASE$ is a rare condition marked by short stature and delayed bone age, characteristic facial features, and @PHENOTYPICFEATURE$.	false
+d7ee5a325d74e65ba2a2662dd5648ae4b7c36b1e	Floating-Harbor syndrome is a rare condition marked by short stature and @DISEASE$, characteristic facial features, and @PHENOTYPICFEATURE$.	false
+dce3b54c9a62abf564a1198cd46e24ce24712c3e	Floating-Harbor syndrome is a rare condition marked by @PHENOTYPICFEATURE$ and @DISEASE$, characteristic facial features, and speech impairment.	false
+6fb653309c1aef5ea6e09fb5a237c24052168863	@DISEASE$ (FHS) is a rare genetic condition characterized by distinct facial features, short stature and @PHENOTYPICFEATURE$.	has_symptom
+156ab4f85ee20b44ea3caabd1325377c1e088ae6	@DISEASE$ (FHS) is a rare genetic condition characterized by distinct facial features, @PHENOTYPICFEATURE$ and delayed skeletal development.	false
+9917b995ab1e3059e0457767172c4a69f69e674e	Floating-Harbor syndrome (FHS) is a rare genetic condition characterized by distinct facial features, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d401956795d61985643a7d8fcc26c37b60a764a1	@DISEASE$ is a rare congenital disorder characterized by specific facial features, short stature associated with significantly @PHENOTYPICFEATURE$ and language impairment.	has_symptom
+bfb456d059bf6f1184b185ffa7550b1a3d4dbf1f	@DISEASE$ is a rare congenital disorder characterized by specific facial features, @PHENOTYPICFEATURE$ associated with significantly delayed bone age and language impairment.	false
+6261af45eea98db95665d0c111701472d7d58e9f	Floating-Harbor syndrome is a rare congenital disorder characterized by specific facial features, @PHENOTYPICFEATURE$ associated with significantly @DISEASE$ and language impairment.	false
+6e4e85359ba8cdb9b116fd36829f8352065427f8	Floating-Harbor syndrome is a rare congenital disorder characterized by specific @DISEASE$ features, @PHENOTYPICFEATURE$ associated with significantly delayed bone age and language impairment.	false
+accd498aa872ee5c940e4e0aa7014187951eadc0	This phenomenon precedes recurrent (secondary) @PHENOTYPICFEATURE$, the latent period (period without seizures) and downstream appearance of spontaneous recurrent seizures (@DISEASE$).	has_symptom
+347f59dd907643104660efc623a5cdbf10ba527f	This phenomenon precedes recurrent (secondary) seizures, the latent period (period without seizures) and downstream appearance of spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+ac9e5dc52638a8a910b31e9e7bb16f1b943aca81	This phenomenon precedes recurrent (secondary) seizures, the latent period (period without @PHENOTYPICFEATURE$) and downstream appearance of spontaneous recurrent seizures (@DISEASE$).	has_symptom
+2e2e7a44ae3304030dd40a6e650bd4ecef892e61	Furthermore, the frequency of @DISEASE$ was much lower than the frequency of early @PHENOTYPICFEATURE$.	has_symptom
+5de44a5e19a1d390b896dbfcc26ca279d592e916	Epilepsy with spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) was induced by status epilepticus.	has_symptom
+96750f2b178eed0f24c269e586e0b84f81e9646e	Acute @PHENOTYPICFEATURE$ and spontaneous recurrent seizures (@DISEASE$) were assessed by videotape techniques.	has_symptom
+3cf2b8753b485cea034fd906d469b3b24473a696	Acute seizures and spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) were assessed by videotape techniques.	has_symptom
+924c640e38e304c4461db5f86ee9ed9c77b9c234	Then, spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$), neuronal loss and astrogliosis were assessed.	has_symptom
+ff51c132b526785f82a0e42073ebe623a3768d93	Further, SRF deficient mice developed more spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+13d0578ddbbd8d56fb6ee458fd80254213d8cf91	Spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) are the major clinical characteristic of epilepsy.	has_symptom
+cd4a458cf5074bc232021a0d5ab33324ac45c9a2	Ultimately, these modifications result in the development of spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+369442e7cf7b54fcce17ec2cce198555c9504fee	Spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) were monitored using Racine's seizure severity scale.	has_symptom
+8c39e04e3373da07fc3d09ff08433a411dd36063	Spontaneous recurrent seizures (@DISEASE$) were monitored using Racine's @PHENOTYPICFEATURE$ severity scale.	has_symptom
+59a1d2f9d0a77fce09b452f87c7d6b520b307bf5	No @PHENOTYPICFEATURE$ developed after @DISEASE$ in patients who had been seizure free before treatment.	has_symptom
+e9640f31ee047bfa3455c3959673a14fe049134a	No seizures developed after @DISEASE$ in patients who had been @PHENOTYPICFEATURE$ free before treatment.	has_symptom
+11abf67c687e498c92595dab6397a0d7479d8d6f	Mutations in the insulin receptor gene cause the severe insulin-resistant syndromes leprechaunism and @DISEASE$, whose metabolic features include fasting hypoglycemia, post-prandial @PHENOTYPICFEATURE$, and extremely elevated insulin levels.	has_symptom
+888b965b928a57591f7944cc7e6350945e89cf27	@DISEASE$ is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @PHENOTYPICFEATURE$, extreme hyperinsulinemia and pineal hyperplasia.	has_symptom
+095c4effe23a461aa75e9fe0dbd0033bdb205c9a	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @DISEASE$, extreme hyperinsulinemia and pineal hyperplasia.	false
+354f445e25ab2cb8b53bb4881a2139c6ae96b87d	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme @PHENOTYPICFEATURE$ and @DISEASE$ hyperplasia.	false
+8e16ae3ce9daad9587f135514a1fc173390fb0cf	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and @DISEASE$ hyperplasia.	false
+c7d8478c6d2377bafca1c613a1eb6448b26633d1	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia.	false
+8f2b33fde0e78712cef61f62c8ca030ea3ef72c6	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial @DISEASE$, extreme @PHENOTYPICFEATURE$ and pineal hyperplasia.	false
+7e2474c61af0f70e25ce54bd41cdbc41866eaa84	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting @DISEASE$ and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia.	false
+e92a5ad2f6ad88802e22c2bb0fa59070a379faeb	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting @DISEASE$ and post-prandial hyperglycemia, extreme @PHENOTYPICFEATURE$ and pineal hyperplasia.	false
+e80e42fcf9f7c21288598d5abdae9cb7c23729b6	Rabson-Mendenhall syndrome is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal @DISEASE$.	false
+adfc4d5e1adf5fcf2818e226a83abf7163aae483	@DISEASE$ is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme @PHENOTYPICFEATURE$ and pineal hyperplasia.	false
+f290e9f6e53ec4ea2d3baca462446acbbb57081b	Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme @PHENOTYPICFEATURE$ and pineal @DISEASE$.	false
+0464242ffc717fd9d2f891b866adbd93ddcd032d	Limb lengthening surgery in patients with multiple malformation complex as in @DISEASE$ is associated with high recurrence risk because of; @PHENOTYPICFEATURE$, overtubulation of the long bones, and the poor bone regenerative quality.	has_symptom
+e2f8b03d0aa3ded1a9a325c887d001fc8f0b07c4	@DISEASE$ is a chronic inflammatory condition characterized by @PHENOTYPICFEATURE$, stiffness, and functional disability.	has_symptom
+9be337abc9e92214d067d1719f810a052500e79d	@DISEASE$ is a chronic systemic inflammatory disease characterized by @PHENOTYPICFEATURE$, stiffness and swelling, with progressive destruction of small joints of the hands and feet.	has_symptom
+664a5d1e23b9fcb5d42f3b9953d0fce05cad449d	Six patients had articular involvement (@PHENOTYPICFEATURE$, spondyloarthritis, @DISEASE$) and three patients had cancer.	has_symptom
+003cbbfc4a6ec32fd63c68ebc91365da71b7b2e5	In some @DISEASE$ (RA) patients, @PHENOTYPICFEATURE$ persists without signs of inflammation.	has_symptom
+f5683619dc402f4c94261b67b5b3c428ff83b270	@DISEASE$ (RA) is a systemic autoimmune disease that causes @PHENOTYPICFEATURE$, inflammation, and loss of function.	has_symptom
+dafc2ac597df87fdfa6bd0780578375c1038607f	Among the patients who had @PHENOTYPICFEATURE$, 36% (34/94) met the American College of Rheumatology criteria to classify them as having @DISEASE$.	has_symptom
+4338e1a1219b46a122fe38bd3ef2214ebe538bf3	A 57-year-old woman presented with fever, vomiting and @PHENOTYPICFEATURE$, with a history of @DISEASE$.	has_symptom
+a247614e2dd29a1301552ba452663bac933a66b2	A 57-year-old woman presented with fever, @PHENOTYPICFEATURE$ and arthralgia, with a history of @DISEASE$.	false
+eeadbb302de4d32a7f7e477e4854f8918ec4a95e	A 57-year-old woman presented with @PHENOTYPICFEATURE$, vomiting and @DISEASE$, with a history of rheumatoid arthritis.	false
+48594c175e2a7395a9fdcb519762236e59ab7333	A 57-year-old woman presented with @PHENOTYPICFEATURE$, vomiting and arthralgia, with a history of @DISEASE$.	false
+db5c9d3aef54786446703d13ee121c71cf39d1fc	A 57-year-old woman presented with fever, @PHENOTYPICFEATURE$ and @DISEASE$, with a history of rheumatoid arthritis.	false
+972725ac938b5d11bb15f0896d3288ee86dc2d72	She had no clinically manifested @DISEASE$, although she complained of slight @PHENOTYPICFEATURE$ in the digital joints, wrists and ankles at irregular intervals.	has_symptom
+32497fc1ee8a1dd6a575947b5b31fa6c59809321	A 43-year-old woman had @DISEASE$ (RA) for 5 years and complained of fever, @PHENOTYPICFEATURE$/myalgia, and night sweating for a month.	has_symptom
+587240acf1e3f56bc5a2046a2e096e949c6bf0cc	@DISEASE$ (RA) is characterized by @PHENOTYPICFEATURE$, allodynia and hyperalgesia.	has_symptom
+923cbf4f5e9783c3e00ba2cda18a0065c34c07e1	This paper reviews the epidemiology, pathologic features, pathogenesis, treatment, and outcome of familial @PHENOTYPICFEATURE$ (Alport syndrome [hereditary nephritis]), thin basement membrane nephropathy), @DISEASE$, Henoch-Sch?nlein purpura, and acute postinfectious glomerulonephritis.	has_symptom
+75dc73e20787b34237251d7f4525d8ea5d4d9650	Finally @DISEASE$ was the major finding among both the 45 patients with hematuria-proteinuria and the 24 patients with isolated @PHENOTYPICFEATURE$ (26.2% and 66.6% respectively).	has_symptom
+a7fb6b5ae310e48b0ac9336d4d010248a49bdfad	Methods: Patients with @DISEASE$, isolated @PHENOTYPICFEATURE$ and/or mild proteinuria were enrolled in the Department of Nephrology, the Second Xiangya Hospital, Central South University from January 2013 to January 2018.	has_symptom
+8328dac9c53e97725c9c645d6e70d82afcb30618	We prefer to perform biopsies on patients with isolated @PHENOTYPICFEATURE$, considering the frequency of @DISEASE$ and the possibility of finding mesangial deposits of IgM and C3 whose significance is so far poorly known.	has_symptom
+03eb603656636f08e809d6753d973ee12e7a8291	We investigated CD56+ cells (natural killer cells), CD14+ cells (macrophage) and CD3+ cells (pan T cells) in urine using flow cytometry in various renal diseases including idiopathic crescentic glomerulonephritis, @DISEASE$, membranoproliferative glomerulonephritis membranous nephropathy, pyelonephritis and idiopathic renal @PHENOTYPICFEATURE$.	has_symptom
+d3070ff9f45329fe0d155ea3741e501023f556a6	They had various types of proliferative glomerular disease, including rapidly progressive glomerulonephritis (RPGN), @DISEASE$ (IgAN), and membranoproliferative glomerulonephritis (MPGN), or nonproliferative glomerulopathy including idiopathic renal @PHENOTYPICFEATURE$ and hereditary nephropathy.	has_symptom
+69f68e32ed3e08aaeb9caee14d18f8873a4eb4e7	A highly progressive group included patients with rapidly progressive glomerulonephritis, diabetic nephropathy, membranoproliferative glomerulonephropathy, primary focal segmental sclerosis and diffuse proliferative lupus nephropathy, moderately progressive group included those with @DISEASE$ and Alport's syndrome and non-progressive group included patients with thin basement membrane nephropathy, minimal change nephrotic syndrome, idiopathic renal @PHENOTYPICFEATURE$ and urolithiasis.	has_symptom
+d49a7a6ef76f566a216ea681626cf6ae9edf12f2	In the patients with non-glomerular @PHENOTYPICFEATURE$, 65.34% had @DISEASE$, 21.78% had non-IgA mesangioproliferative glomerulonephritis, and 8.91% had small glomerular lesions.	has_symptom
+557b9ecae8153ca80ea0aa8a9bb6a257b602f809	We conclude (1) that demonstration of circulating macromolecular IgA in patients with renal @PHENOTYPICFEATURE$ is of diagnostic value and (2) that antigenetic similarities between the circulating and the mesangial macromolecular IgA suggest that dimeric IgA1 is deposited in the mesangium of patients with @DISEASE$.	has_symptom
+e425f9367808700ce7155e776a380369c7f2a380	Widespread @PHENOTYPICFEATURE$ and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type @DISEASE$.	has_symptom
+a441c93f3f6008d2cd57a7ac4bc5cce2fc92d941	Malformations of cortical development (@DISEASE$) are a common cause of intractable @PHENOTYPICFEATURE$ in humans.	has_symptom
+bf11c7046fbc55d235d6720c6f99b6a79be07d87	MRI features were correlated with postsurgical @PHENOTYPICFEATURE$ outcome in patients with hemispheric malformations of cortical development (@DISEASE$).	has_symptom
+6266271b80a64f23be8db9cfb78c73bc012e3064	Majority of patients with @DISEASE$ and refractory epilepsy when operated early remains @PHENOTYPICFEATURE$-free.	has_symptom
+973a98c8609058ee956c0d3af437e93822556ef7	Long-term video-EEG monitoring was used to record the @PHENOTYPICFEATURE$ in the rats with @DISEASE$.	has_symptom
+16bf79499bece446aac193ebc118a9b7e4237d15	However, the threshold @DISEASE$ dose to induce @PHENOTYPICFEATURE$ drastically decreased after the first postnatal week.	has_symptom
+a2af2433290f098c11dfb8c0a4be7df21214052d	Patients with @DISEASE$ showed the worst @PHENOTYPICFEATURE$ outcome.	has_symptom
+4ba719aa740b3e5afa9e9142f9d916b82878c779	To determine long-term efficacy and safety of epilepsy surgery in children and adolescents with malformations of cortical development (@DISEASE$) and to identify differences in @PHENOTYPICFEATURE$ outcome of the various MCD subgroups.	has_symptom
+a04f86faa3a3e9ccc570d13f4de35840627d089e	To determine long-term efficacy and safety of epilepsy surgery in children and adolescents with malformations of cortical development (MCD) and to identify differences in @PHENOTYPICFEATURE$ outcome of the various @DISEASE$ subgroups.	has_symptom
+a7f3772a19956b7cede9fd4d9783ccd685e00ea4	Clinical trials with mTOR inhibitors have shown efficacy in the treatment of @PHENOTYPICFEATURE$ associated with focal @DISEASE$.	has_symptom
+8986cc8653fdbe6fcae038b4472ec219d4665652	These data suggest that p-ACC may confer @PHENOTYPICFEATURE$ resistance in models of @DISEASE$.	has_symptom
+23a7a44077f0b32045074e25dc74efe46f2e7468	MRI evidence of hemimegalencephaly or bilateral @DISEASE$ suggests a low likelihood for postoperative freedom from @PHENOTYPICFEATURE$.	has_symptom
+7966a8e81aaf2a72282f018431e46423ba29b384	Intermittent @PHENOTYPICFEATURE$ and immunodeficiency with @DISEASE$: a biotin-responsive disorder.	has_symptom
+ce8f71e2ea98799835f85d79aa13d4352cfdc185	One member of a pedigree with @DISEASE$ (neurogenic weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature.	has_symptom
+d249ffa4c85c47a609b70429653ae5d0b6522420	Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (@DISEASE$), or maternally inherited Leigh syndrome (LS), with a correlation between the amount of mutant mtDNA and the severity of the neurological disease.	has_symptom
+f47496c00d8428b0e32c35aa5cbaa01e80c130d3	Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause @DISEASE$ (neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosa) or MILS (maternally inherited Leigh syndrome).	has_symptom
+e3349728c5f6e931479f5daa870a7efbdbacd296	It should be differentiated with adrenoleucodistrophy, Refsum disease and @DISEASE$ (neuropathy, @PHENOTYPICFEATURE$, pigmentive retinitis).	has_symptom
+30bca85aface06bfcd0cf342f642d19cada69742	A novel mitochondrial mutation m.8989G>C associated with neuropathy, @PHENOTYPICFEATURE$, retinitis pigmentosa - the @DISEASE$.	has_symptom
+94ce9dafc7200fd6b0873783e87ca193594840e8	EEG abnormalities may precede adult onset @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+e002646cee6c89628e2194c584313a90d0b0a24f	Short stature, @PHENOTYPICFEATURE$, and Peters' anomaly (@DISEASE$): confirmation of autosomal recessive inheritance.	has_symptom
+a8c21b2a329851a16a53ab13fc8cd40bd3c06a46	@PHENOTYPICFEATURE$, @DISEASE$, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.	false
+5f745c7d28bd5a30be97856be8bc6913565d4c39	@PHENOTYPICFEATURE$, brachydactyly, and Peters' anomaly (@DISEASE$): confirmation of autosomal recessive inheritance.	false
+06141db8989b91407c9621a9a90eb474144611b9	@PHENOTYPICFEATURE$, brachydactyly, and @DISEASE$ (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.	false
+05cb612610445c20dfad32e94d4fc0d425fcb556	Two sibs with a phenotype characterised by short stature, @PHENOTYPICFEATURE$, and ocular anomalies (Peters' anomaly) are reported (@DISEASE$).	has_symptom
+4dfe662153dd1f5457aec5cdad5d5ae17b50f8a1	Two sibs with a phenotype characterised by @PHENOTYPICFEATURE$, brachydactyly, and ocular anomalies (@DISEASE$) are reported (Peters'-plus syndrome).	false
+a015699d3d34b914094bfa7c817a39599b848c8a	Two sibs with a phenotype characterised by @PHENOTYPICFEATURE$, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (@DISEASE$).	false
+a8143085e2326b0904c02955c728e52c5be63c68	Two sibs with a phenotype characterised by @PHENOTYPICFEATURE$, @DISEASE$, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome).	false
+c727879350f94b458991a5dfb7c9fa329b7c33f5	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature, and @PHENOTYPICFEATURE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	has_symptom
+c0dfa5edf65f3286fbe29e6080ceb66716dd52aa	Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, @PHENOTYPICFEATURE$, and @DISEASE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+5f20caa202139ee29f9e6dea90266da2d7ada9bf	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @PHENOTYPICFEATURE$, short stature, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+58a9add18947c0a93cf01626dd45ffe6a7fccb9a	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, @PHENOTYPICFEATURE$, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+ba6a53f01836d6a075ffdcb700a368e038acaab8	Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @PHENOTYPICFEATURE$, short stature, and @DISEASE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+10726667bd1a89a94c7931ec7b34b619252d1468	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	has_symptom
+52c991faa1f24248e2fc82adb7a744d80501b3a9	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+1ea7753fcadb5a38b77847b1a997c471ff015c17	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+557932dd647ea7ae60bd499ad9bdb77afcbca5d2	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+20ca1349bb948daf015c98b593e1ae1f60fde313	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @PHENOTYPICFEATURE$, @DISEASE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+7db63d32915485da97007145b963e255632e82ec	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+c0b2c43ba9ebacc160e9b7f812e1c13d16054966	Peters plus syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+8dead7bcd58aca34e2441991fdab43be3e83822c	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+c4ea80da6d9d7aecfd0dc19809f1088c189f19cf	Peters plus syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+a4dd688ee1facb95c2a06a6283f93e7a7058bb4c	@PHENOTYPICFEATURE$ and parathyroid adenoma in @DISEASE$ (Rothmund-Thomson syndrome).	has_symptom
+0293fed66fedac862cf8daea37600696128f8b77	@PHENOTYPICFEATURE$ and parathyroid adenoma in congenital poikiloderma (@DISEASE$).	has_symptom
+0ee2da833a54385727021d90d9bf107557453861	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and @PHENOTYPICFEATURE$.	has_symptom
+a098528d74afb36f8f3bd414465c8b88167c15fa	Rothmund Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and @PHENOTYPICFEATURE$.	has_symptom
+bfd8d1f9194b71a0328730c6d2a6cc29026b82a6	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, @PHENOTYPICFEATURE$ and hypogonadism.	false
+7c1cf6a0e993a4fca56747581f228fe0e74ec306	Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d9c28feb4997ddec0a6da6daea44a49fa5ea89ec	Rothmund Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, @PHENOTYPICFEATURE$ and hypogonadism.	false
+848bd64856d18614163e78d46914f49e2acce9c4	Surprisingly, the brains of Nhej1-deficient mice appear to be normal although @DISEASE$ in humans causes severe neurological dysfunction and @PHENOTYPICFEATURE$.	has_symptom
+617b3cb5ed8d1c5ecb8c89948ba6f692a70139a4	@DISEASE$ should be considered in children with recurrent bacterial infections, @PHENOTYPICFEATURE$ and growth retardation, in spite of having normal B-cell as well as normal IgM and IgA level.	has_symptom
+774e941a915001fe339f6e3aec01ef393398ff99	Cernunnos deficiency should be considered in children with recurrent bacterial infections, @DISEASE$ and @PHENOTYPICFEATURE$, in spite of having normal B-cell as well as normal IgM and IgA level.	false
+5a72d646b3992f97d6a35609e7751fc0bc0145f0	Cernunnos deficiency should be considered in children with recurrent @DISEASE$, microcephaly and @PHENOTYPICFEATURE$, in spite of having normal B-cell as well as normal IgM and IgA level.	false
+0e1c0f31e99077027c364f52af78969bea8cf994	@DISEASE$ should be considered in children with recurrent bacterial infections, microcephaly and @PHENOTYPICFEATURE$, in spite of having normal B-cell as well as normal IgM and IgA level.	false
+a6e808109826ae79d96c4cc4cfb809db4e01aa1f	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	has_symptom
+a21494b03fea9f22b889b6aa3dc3ab1089b6911b	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	has_symptom
+27d2bc8b1412ea38fa93b8ced775916deb30445d	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+75304452cb0f596d52c97c1b37a91486550dcc02	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @DISEASE$, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+2a6ef4e1efd72f66f280024dadc53dd6cf3250eb	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 @DISEASE$).	false
+79e5509ef0ed44bc75a326ba1afc2f6fe1cd600f	Microcephaly and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+cf1bf5759656876bae59d678b248ede84a741feb	Microcephaly and @DISEASE$ are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+f2a055b50d8cd9387096df6f66a97207c59b1fb3	@DISEASE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+5d0bd661d155168d637d1842f92d952f521c041d	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	false
+f5aed0e7f2e69a074966c4b9fe2b717a2630d1a9	Specific for @DISEASE$ are nasal or oral inflammation and development of @PHENOTYPICFEATURE$ and purulent or bloody nasal discharge.	has_symptom
+e0476b60cc771eca4aaee5212167750e0d1470ed	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	has_symptom
+e25a82265af5de6472fa85284d5c995cc9b32bb4	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+69fb925c49f6bdc0ac00caa6c31aeb8be510d1d4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+795f53474d4a2584dd949b544c08d3d7e80fa755	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d073e4e1273d1c719d1bd9ad7b7c1ba72d02fc6c	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6c0b5253534648cafad296fe0c97f1870dd7d1a9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cfd88b24a9293f70c83dd6dfdb528dbc425b5bb7	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+8ddd3de61688b5b9ac4dd116cd72c0d4df66ebe2	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e03d2e9f036864b184a0b0609bedae3ce668408e	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+38894498d312c83e97b443413ed72eee0fc4af86	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+5e1818eb96b64a9a2fe12e8efac5b09f2242fe4f	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+4f798dcac0cf695c2cdf76111da336bb2d81b6ae	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cb8caa8c097e0c4f6abc09c938a1d0b301246bb9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+bcd0bf01e766ee5738d4df0bdc40b9c3b5676621	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+4ccb7b3e953f6f8fa8ce178a5c36d1668ade97df	The neuropathological studies of a 4-year old idiot with @PHENOTYPICFEATURE$ revealed a striking demyelinating disease compatible with @DISEASE$.	has_symptom
+49aa1e370b6243de8d1172ddd41ee10fea9edadc	Long-term outcome in @DISEASE$ is disappointing with impaired IQ, @PHENOTYPICFEATURE$, and fertility problems.	has_symptom
+49cd8c53b900723b07fa617e7a0f42a39d880216	@DISEASE$ (HoFH) is associated with severe @PHENOTYPICFEATURE$ and premature cardiovascular morbidity and mortality.	has_symptom
+8878ef0928bfa106c194dd266f3154695573d9f6	Living-donor liver transplantation for @DISEASE$ from a donor with heterozygous @PHENOTYPICFEATURE$.	has_symptom
+373965c5e6db08eb4fa9c20bb94ba9a0d723d311	Rosuvastatin is a new statin indicated to reduce elevated levels of total cholesterol, low-density lipoprotein cholesterol (LDL-C), and triglycerides and to increase levels of high-density lipoprotein cholesterol (HDL-C) in patients with primary @PHENOTYPICFEATURE$, mixed dyslipidemia, and @DISEASE$.	has_symptom
+7adce38c949fc910021f654d0ac23078cab27975	@DISEASE$ (HoFH) represents the most severe lipoprotein disorder, generally attributable to mutation(s) of the low-density lipoprotein receptor (LDL-R), i.e. autosomal dominant @PHENOTYPICFEATURE$ type 1 (ADH1).	has_symptom
+cf68a74dc1bd949b9cafee3e851b174c5cb65611	We experienced the case of an infant aged 2 years 5 months who had @DISEASE$ and who received a liver graft from his father, who had familial heterozygous @PHENOTYPICFEATURE$.	has_symptom
+9f5c193d20ddcdd4eb0bfb85a74496d2781eb536	Patients with @DISEASE$ exhibit severe @PHENOTYPICFEATURE$, cutaneous and tendon xanthomata, and premature atherosclerosis from childhood.	has_symptom
+432ce913f5e3ddbca8f62faf3bdfc11ab7b63f1a	It has been found that people suffering from diabetes, obesity, @DISEASE$, moderate @PHENOTYPICFEATURE$, and smokers have higher levels of isoprostanes in urine.	has_symptom
+e90d978966ecb9182a2c9871e392d2bf46ceb6ef	It has been found that people suffering from diabetes, @PHENOTYPICFEATURE$, @DISEASE$, moderate hypercholesterolemia, and smokers have higher levels of isoprostanes in urine.	false
+fcb9a3511e98724d4e581723e6496f1113e756f4	It has been found that people suffering from diabetes, @PHENOTYPICFEATURE$, homozygous familial hypercholesterolemia, moderate @DISEASE$, and smokers have higher levels of isoprostanes in urine.	false
+0a955c7e2456b18e30dffb1e6cf25ca1fab164f3	In clinical trials, mipomersen produced dose-dependent and prolonged reductions in LDL-cholesterol and other apoB-containing lipoproteins, including lipoprotein (a) [Lp(a)] in healthy volunteers and in patients with mild to moderate @PHENOTYPICFEATURE$. Mipomersen has been shown to decrease apoB, LDL-cholesterol and Lp(a) in patients with heterozygous and @DISEASE$ on maximally tolerated lipid-lowering therapy.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+79a821777764d58adb819e0eb692766955c71569	@PHENOTYPICFEATURE$ and psychiatric disorders in @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+cbecefd8fbd2c5f45794d569033fb0ed23dcc617	[Bourneville's @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+aae351cb39e54240dfc235424d026c0f8f9e0b7f	Childhood @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3832e942658729e4f07403bebc540149725c3a66	A prevalence study of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2b79dfca7d42ff43cccbeb5d139d11d82c3d2b48	@PHENOTYPICFEATURE$ and infantile spasms in children with @DISEASE$.	has_symptom
+0cc70752fe425ce0903c50e8658c640490fd7b83	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with @DISEASE$ premalignant lesions, LS @PHENOTYPICFEATURE$, and sporadic colorectal cancers from TCGA.	has_symptom
+be0eac6092f335fcaf7ce72cc9dba02278fbd322	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, LS carcinoma, and @PHENOTYPICFEATURE$ @DISEASE$ from TCGA.	false
+38320b1650aca10fe64e6615114abcab47b15519	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, @DISEASE$ carcinoma, and @PHENOTYPICFEATURE$ colorectal cancers from TCGA.	false
+66d0af3983ce72fc4963f391ae847d5d7d7b73c2	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, LS @DISEASE$, and @PHENOTYPICFEATURE$ colorectal cancers from TCGA.	false
+a5dfd259fb6ebd9bacd1ac0cdef3b7c91d294882	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with @DISEASE$ premalignant lesions, LS carcinoma, and @PHENOTYPICFEATURE$ colorectal cancers from TCGA.	false
+dda5d8388d79606b470b56d67cba060e1cec0cde	Mutation of the @DISEASE$ (APC gene), an early event in the adenoma-@PHENOTYPICFEATURE$ sequence, is present in 70-80% of sporadic human colorectal adenomas and carcinomas.	has_symptom
+e9d65146eccb12c958e93d6f4ed97bd14f4747a1	Mutation of the adenomatous polyposis coli (APC gene), an early event in the adenoma-carcinoma sequence, is present in 70-80% of @PHENOTYPICFEATURE$ human colorectal @DISEASE$ and carcinomas.	false
+fcd638079202df930141e4c18d251521579fcfff	Mutation of the adenomatous polyposis coli (APC gene), an early event in the @DISEASE$-carcinoma sequence, is present in 70-80% of @PHENOTYPICFEATURE$ human colorectal adenomas and carcinomas.	false
+acb4098db2ebba0247fdec1ed088896ab5f45efa	Mutation of the @DISEASE$ (APC gene), an early event in the adenoma-carcinoma sequence, is present in 70-80% of @PHENOTYPICFEATURE$ human colorectal adenomas and carcinomas.	false
+f1f8527ea2bcb12d7eb3b2b22ee3b551048987be	Mutation of the adenomatous polyposis coli (APC gene), an early event in the adenoma-@DISEASE$ sequence, is present in 70-80% of @PHENOTYPICFEATURE$ human colorectal adenomas and carcinomas.	false
+587ee7a85b57cf51c127b76bc019a03c4a593b38	@PHENOTYPICFEATURE$ in a case of @DISEASE$.	has_symptom
+cf3e55c7a77607e58bedbcafbb89d4d6ccf91a36	Congenital @PHENOTYPICFEATURE$ with wheel-rolling ocular torsion-a neurodiagnostic phenotype of @DISEASE$.	has_symptom
+40408148764e4a0e9f8a559acdd9602926e2d569	@DISEASE$ is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, @PHENOTYPICFEATURE$, and breathing abnormalities.	has_symptom
+4902ebc6dbf1abdc346d5f340d076aedbb443680	@DISEASE$ (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain malformation, @PHENOTYPICFEATURE$, breathing abnormalities and developmental delay.	has_symptom
+e7675bcbcbf3ec64c116a7b8c84243fc71b19d12	Head thrusts are well documented in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+37df7e0c682e6816ce97244616840cfab7dd3178	Named after the French doctor who first described this rare neurological condition, @DISEASE$ is characterised by developmental delay, hypotonia, ataxia and @PHENOTYPICFEATURE$.	has_symptom
+97bf3a0e1ff5698e0d496fba1eaf24fe530c7a80	Named after the French doctor who first described this rare neurological condition, @DISEASE$ is characterised by developmental delay, hypotonia, @PHENOTYPICFEATURE$ and oculomotor apraxia.	false
+ebdd241201905145b1e4e907ecc8c494a388bc0a	Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4e828e280cc33350c699346f95f42e662ce23507	Mutations in Arl13b cause @DISEASE$, which is characterized by congenital cerebellar ataxia, hypotonia, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+453958f06853e824ab5314454e7a88be83046810	Mutations in Arl13b cause @DISEASE$, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and @PHENOTYPICFEATURE$.	false
+871bd9e77d00afa4dd1411484180bbe9e8fd7586	Mutations in Arl13b cause @DISEASE$, which is characterized by congenital @PHENOTYPICFEATURE$, hypotonia, oculomotor apraxia, and mental retardation.	false
+036fa5208f3e624eb3f6b038ee4d7fc718d392c5	Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital cerebellar ataxia, hypotonia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a2ac2f02717732781e34e90d7f053b4cfab73106	Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, and mental retardation.	false
+c9dced04698ffc0de61a88ce76f155c2262e7565	Biallelic pathogenic variant in AHI1 gene can cause @DISEASE$-related disorders with @PHENOTYPICFEATURE$ characteristics.	has_symptom
+da1b7bc1510a372aca04cf299767ab8615d69cd8	@DISEASE$ (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, @PHENOTYPICFEATURE$, and breathing abnormalities.	has_symptom
+c386c550545fd9dbe93ded7abd9f3d9c171e78b9	Congenital @PHENOTYPICFEATURE$ (COMA) occasionally shares with @DISEASE$ (JS) and related disorders (JSRDs) a peculiar malformation, the 'molar tooth sign' (MTS).	has_symptom
+a4bdb273de64c6b4c1bde52bb00c3896f0aab66b	@DISEASE$ is a ciliopathy defined by cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, intermittent hyperventilation, and mental retardation.	has_symptom
+f724de8da51d054e2b6bf3fb8189b50286777cf7	@DISEASE$ is a ciliopathy defined by @PHENOTYPICFEATURE$, oculomotor apraxia, intermittent hyperventilation, and mental retardation.	false
+e4cc21ab42b2c72fe9afc15af9a4a34e9624f093	Joubert syndrome is a ciliopathy defined by @PHENOTYPICFEATURE$, @DISEASE$, intermittent hyperventilation, and mental retardation.	false
+b4afd55bfb8cd28267ceb9ce5572b5d31e100602	@DISEASE$ is a ciliopathy defined by cerebellar vermis hypoplasia, oculomotor apraxia, intermittent hyperventilation, and @PHENOTYPICFEATURE$.	false
+0e8602021f8e3fba1c6483f50340cd33b93750db	Joubert syndrome is a ciliopathy defined by cerebellar vermis hypoplasia, @DISEASE$, intermittent hyperventilation, and @PHENOTYPICFEATURE$.	false
+85748c155046dbc373a56a0f8b5445a80efd612e	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), @PHENOTYPICFEATURE$, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	has_symptom
+cd541d8acf03f20f4707f1246c2068d9e36a9ad8	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @PHENOTYPICFEATURE$, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	false
+1a0a9d608aff6a22cfa9c9cf91059a83bca340ea	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @PHENOTYPICFEATURE$, down-turned mouth and retrognathia), @DISEASE$, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.	false
+306b4df7250137cca975d8a30c2824ada89c146c	A male newborn who had fetal face appearance (broad and prominent forehead, @PHENOTYPICFEATURE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), @DISEASE$, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.	false
+19241dedc9706620815fbc7fa4671512846f1137	A male newborn who had fetal face appearance (broad and prominent forehead, @PHENOTYPICFEATURE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	false
+8d2b4dd42317ecb2c0dbbb2ad469dd08499b60c3	@DISEASE$ is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, genital hypoplasia, and distinctive facial features.	has_symptom
+cb13bd0e32fb4c1fdd13966834e88d3d12d63228	@DISEASE$ is a genetically heterogeneous disorder characterized by @PHENOTYPICFEATURE$, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described.	has_symptom
+3497add93852692962f95db573acf3cc735797bd	@DISEASE$ is a genetically heterogeneous condition characterized by @PHENOTYPICFEATURE$ associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode.	has_symptom
+e8e13ad42ff7ce9c67b71f5fcb86f3e51e7f5047	Robinow syndrome is a genetically heterogeneous condition characterized by @DISEASE$ associated with facial and @PHENOTYPICFEATURE$ that can be inherited in an autosomal dominant or recessive mode.	false
+aadbe16b55d60280dfe3e9ce4bb88c9281227f8f	@DISEASE$ is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and @PHENOTYPICFEATURE$ that can be inherited in an autosomal dominant or recessive mode.	false
+c8822b65f2b43a9280280481b240ab0d5d2d736a	Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with @DISEASE$ and @PHENOTYPICFEATURE$ that can be inherited in an autosomal dominant or recessive mode.	false
+a2659a00a08e90a5d2672d8e644d954db018375c	Robinow syndrome, also known as @DISEASE$, is a rare genetically heterogeneous condition characterized mainly by @PHENOTYPICFEATURE$, facial malformations, and genital abnormalities.	has_symptom
+2f7d7e24030b979f3263710338348e89552266c7	@DISEASE$, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by @PHENOTYPICFEATURE$, facial malformations, and genital abnormalities.	has_symptom
+79c610df2414246d4daf64b71a5b9787ce43f5f7	Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by @DISEASE$, facial malformations, and @PHENOTYPICFEATURE$.	false
+15be079791d8388d930f061d116ad2a16ede8ea5	@DISEASE$, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and @PHENOTYPICFEATURE$.	false
+0b2be4ee763dda1b28908a03ff3719e6d64168cd	Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, @DISEASE$ malformations, and @PHENOTYPICFEATURE$.	false
+46e6d0d38a47d124bf730ec8e01960fb7e2ae6a1	Robinow syndrome, also known as @DISEASE$, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and @PHENOTYPICFEATURE$.	false
+36ed5ec0f2eee4f934254f9fbba4aea145a82511	@DISEASE$ (RS) is a human dwarfism syndrome characterized by @PHENOTYPICFEATURE$, vertebral and craniofacial malformations and small external genitals.	has_symptom
+7e0917227cfed96d7464534617f4f8bd6788698c	@DISEASE$ is an extremely rare metabolic disorder with clinical features of @PHENOTYPICFEATURE$ and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly.	has_symptom
+a4204377bda435369ec737fdbf5c6e107afaeb30	@DISEASE$ is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and @PHENOTYPICFEATURE$ without facial dysmorphism or visceral organomegaly.	false
+856c8bb8e82b407657299c637ec10152b9f480e4	@DISEASE$ is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without @PHENOTYPICFEATURE$ or visceral organomegaly.	false
+b10fe1a4c756c3394ec68363b6ee445d581adf7a	Late infantile GM1 gangliosidosis is an extremely rare @DISEASE$ with clinical features of seizure and progressive motor and mental retardation without @PHENOTYPICFEATURE$ or visceral organomegaly.	false
+43f2267d8cdc2bcbd609fbde378a3b95b3acf66f	Late infantile GM1 gangliosidosis is an extremely rare @DISEASE$ with clinical features of seizure and progressive motor and @PHENOTYPICFEATURE$ without facial dysmorphism or visceral organomegaly.	false
+ce0ae85bdad35a7c11e38b6f5d7b9dc0b92c1215	Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of @DISEASE$ and progressive motor and @PHENOTYPICFEATURE$ without facial dysmorphism or visceral organomegaly.	false
+033ef75639a79e23c1e76916cf0036498b068483	Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of @DISEASE$ and progressive motor and mental retardation without @PHENOTYPICFEATURE$ or visceral organomegaly.	false
+b8097cdfc01421d880222431eb5fbdad21ea212b	Our results indicate the efficacy of the present method for the differential diagnosis between @DISEASE$ and DMD with @PHENOTYPICFEATURE$, which is essential for the genetic study to identify the causative gene of FCMD.	has_symptom
+893b0f356fb1808a511f60a0ec31ac5901d90c81	Our results indicate the efficacy of the present method for the differential diagnosis between FCMD and DMD with @PHENOTYPICFEATURE$, which is essential for the genetic study to identify the causative gene of @DISEASE$.	has_symptom
+0b22d12f2c69f146df639a72c991c525717931af	Intellectual level was variable in BP 1, UP, FP and Others, but all cases showed @PHENOTYPICFEATURE$ in AG 1, AG 2 and BP 2. BP 2 was observed in all cases of typical @DISEASE$ (5/5).	has_symptom
+c50bad392022a9f9da2c251ebcc48216e2331f65	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (@DISEASE$), early onset of muscular hypotonia, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	has_symptom
+801d7738c22d75875e62bceb4a5978ea73b60d44	A three-year-ten-month old boy with the Fukuyama type of @DISEASE$ (FCMD), early onset of @PHENOTYPICFEATURE$, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+56bfbf57400457fe5a70c8c837755a4c6f102a68	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of @PHENOTYPICFEATURE$, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of @DISEASE$ is described.	false
+66dfd3c3886668c35f6b5a620ab46f8f1eeaee26	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of @PHENOTYPICFEATURE$, @DISEASE$, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+f76bbad9e3387f943b7073e32e0d89ebaad28a88	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (@DISEASE$), early onset of @PHENOTYPICFEATURE$, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+8f07fb554690f429d24e93f0db34cebf8b799f1f	Muscle-Eye-Brain disease (MEB) and Fukuyama type congenital muscular dystrophy (@DISEASE$) are clinically similar autosomal recessive diseases, characterized by congenital muscular dystrophy and @PHENOTYPICFEATURE$, raising the possibility that they might be caused by mutations of the same gene.	has_symptom
+c83b8fe42c5348a330afa1a77b9522e35a59b1ce	Systemic @DISEASE$ (sJIA) is an autoinflammatory disease characterised by @PHENOTYPICFEATURE$ and arthritis.	has_symptom
+d66d216dbe64ee7baf44b8ce247d7f13c328b7ba	Systemic juvenile idiopathic arthritis is a subtype of @DISEASE$ and characterized by arthritis and many systemic features like @PHENOTYPICFEATURE$, rash, hepatosplenomegaly, lymphadenopathy and serositis.	has_symptom
+f9a56534c0323459e758e2480cfd90f867f94a82	Systemic @DISEASE$ is a subtype of juvenile idiopathic arthritis and characterized by arthritis and many systemic features like @PHENOTYPICFEATURE$, rash, hepatosplenomegaly, lymphadenopathy and serositis.	has_symptom
+5875e4820110eea76d0f383e69d9db43c111e288	Systemic @DISEASE$ (sJIA) is a debilitating childhood disease presenting with @PHENOTYPICFEATURE$, rash and arthritis.	has_symptom
+f4d6fe786bbbb2bd141f219df9bfb0af5a580878	A 13-year-old girl presented with features typical of systemic @DISEASE$, including @PHENOTYPICFEATURE$, rash and arthritis.	has_symptom
+4a4c9a10bcba90697c7b5514477db4b1d2feb1dc	Systemic @DISEASE$ (sJIA) is an inflammatory condition characterized by @PHENOTYPICFEATURE$, lymphadenopathy, arthritis, rash and serositis.	has_symptom
+85f199b96c1c8d54f03b4766370924a7a3387d6d	[JRA (@DISEASE$( and rhematic @PHENOTYPICFEATURE$; problems in diagnosis].	has_symptom
+7aadec5f38d0f5e8f09191760d8cb452b071af02	Systemic juvenile idiopathic arthritis (sJIA) is a distinctive subtype of @DISEASE$, characterized by @PHENOTYPICFEATURE$ and arthritis, often accompanied by rash, sometimes by generalized lymphadenopathy, hepatosplenomegaly, and serositis.	has_symptom
+cc048246c2775d2c99247320d0fd4193463d3f4d	Systemic @DISEASE$ (sJIA) is a distinctive subtype of juvenile idiopathic arthritis, characterized by @PHENOTYPICFEATURE$ and arthritis, often accompanied by rash, sometimes by generalized lymphadenopathy, hepatosplenomegaly, and serositis.	has_symptom
+5dab6b01de572d3763168535cb667f07b434bdc1	Systemic @DISEASE$ (sJIA) is an inflammatory condition that presents with @PHENOTYPICFEATURE$, rash and arthritis.	has_symptom
+340a8af09d2e2b2b2fa09be455380548e3c2fe77	Systemic @DISEASE$ (SJIA) is an inflammatory condition characterized by @PHENOTYPICFEATURE$, lymphadenopathy, rash, arthritis, and serositis.	has_symptom
+e37883603ff970ce0f3f8b0df2ba47c87ea51c19	Systemic @DISEASE$ (SJIA) is an inflammatory condition characterized by @PHENOTYPICFEATURE$, lymphadenopathy, arthritis, rash and serositis.	has_symptom
+8568d97666e92f19f90176581d2282f088c09409	One severe case was observed with shock, diffuse intravascular coagulation and @DISEASE$ (ARDS), followed by 5 other patients presenting with marked degrees of @PHENOTYPICFEATURE$ and hypocapnia.	has_symptom
+40021dfbbd38ea2fa32d944c8eb9c090bdd3bc73	Although multiple trauma studies have used hypoxemia without radiographic adjudication as a surrogate for identifying @DISEASE$ (ARDS) cases, the differences between patients with @PHENOTYPICFEATURE$ alone and those with radiographically confirmed ARDS are not well described in the literature.	has_symptom
+fada507a1d4e189222812ea00311b9d8eeec840e	@DISEASE$ (ARDS) is characterized by progressive @PHENOTYPICFEATURE$, diffuse bilateral pulmonary infiltrates and normal left ventricular function.	has_symptom
+059033b5d8aecc4993eeb26f5dac4c7c810f37ce	@DISEASE$ (ARDS) has been a well recognized severe form of acute respiratory failure of multiple causes, which is characterized by intractable @PHENOTYPICFEATURE$ and an extremely high mortality rate.	has_symptom
+7921c1504ea60a218cbce5dc8b192f350f9bdec4	The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, @PHENOTYPICFEATURE$, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with myelomeningocele, truncus arteriosus, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with @DISEASE$.	has_symptom
+de403a1c81ec87488f160653ecfa2e0be94c84c8	The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, @DISEASE$, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with myelomeningocele, @PHENOTYPICFEATURE$, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with DiGeorge anomaly.	false
+a71101fc41462cf42f574fd2e0a4a5d7ec058c0a	The family history is significant for a brother who died at 2 weeks of age with myelomeningocele, hydrocephalus, transposition of the great vessels, and unilateral renal agenesis, and a sister who died at 11 days of age with myelomeningocele, @PHENOTYPICFEATURE$, hypocalcemia, and autopsy findings of absent thymus and parathyroid glands, consistent with @DISEASE$.	false
+25cb881904055c18100e22978c96764cb7773cc9	The goals of this review were to summarize the pharmacology, pharmacokinetics, efficacy, and tolerability of pregabalin; review its approved uses in the management of neuropathic pain and refractory partial-onset @PHENOTYPICFEATURE$; and investigate its potential use in patients with GAD or @DISEASE$.	has_symptom
+a9056f3f5b1e7e7393a60ca47cdc4a75e1bfedf9	The remaining @DISEASE$ mice had mild lung histological changes in room air with an altered respiratory pattern, @PHENOTYPICFEATURE$, and a high rate of death in response to hypoxia.	has_symptom
+b669fc422eaa68a2e6036691798772f3bf5e4f55	A @PHENOTYPICFEATURE$ boy with discrete physical findings, @DISEASE$ (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described.	has_symptom
+0673b6fc20d6628f7ca746ec1f94ef6e416dbc3d	A consanguineous family with @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	has_symptom
+506c20afcb5e986bea995f1a2c8e54bb41b0c52b	A consanguineous family with @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-Shprintzen syndrome).	false
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	false
+98c32a753d68151d5f8143eb70c0010366cbf27c	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and @DISEASE$ (Goldberg-Shprintzen syndrome).	false
+ef21497c7d9bfa3b83b46f91ccb9a8de3ad9d71c	@DISEASE$, @PHENOTYPICFEATURE$ and dysmorphic facial features in five unrelated children.	has_symptom
+d8eb71ea9904d2f4fcece97062f9e95f94b73a3b	There are several reports on patients with @DISEASE$, @PHENOTYPICFEATURE$ and various dysmorphic features.	has_symptom
+b7fe5f2be8b2a663cb96fada2994553d6d369148	@DISEASE$, @PHENOTYPICFEATURE$, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family.	has_symptom
+5089c9fe3db5137738200335c1613cf578db3d61	@DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family.	false
+2973e9c165040303da167b34a30130d4a3e6465f	Hirschsprung disease, @DISEASE$, @PHENOTYPICFEATURE$, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family.	false
+e8ad23eeaf0a0797aecf138cae94e32a1496690a	@DISEASE$, unusual face, @PHENOTYPICFEATURE$, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.	has_symptom
+ae9522e31fc6ee35d2333ac880fe91ddf9dbe8f8	MOWS patients show multiple anomalies including @PHENOTYPICFEATURE$, a distinctive facial appearance, microcephaly, congenital heart defects and @DISEASE$.	has_symptom
+b150d8545dfe9431c326504c2a946959a3d6d845	MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+edf0b1dc12040c75842c1b55eeecb02fcfd388cd	MOWS patients show multiple anomalies including @DISEASE$, a distinctive facial appearance, microcephaly, @PHENOTYPICFEATURE$ and Hirschsprung disease.	false
+50866979c7095ae4bab21c0822e978df398ac1d4	MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, @PHENOTYPICFEATURE$, congenital heart defects and @DISEASE$.	false
+93dd61f5c2da595d55ac6c24b1491acbaee47a59	MOWS patients show multiple anomalies including @DISEASE$, a distinctive facial appearance, @PHENOTYPICFEATURE$, congenital heart defects and Hirschsprung disease.	false
+54dd5116f5d124d5af899d95488feabf88f728c2	The syndrome of @DISEASE$, microcephaly, unusual face, and @PHENOTYPICFEATURE$.	has_symptom
+8ae42a2501b228fda4b3f4a37b03ef6ada3e2211	The syndrome of @DISEASE$, @PHENOTYPICFEATURE$, unusual face, and mental retardation.	false
+5d5f69b905bc49d9975bec0654021a745d173e80	The syndrome of Hirschsprung disease, @PHENOTYPICFEATURE$, unusual face, and @DISEASE$.	false
+fdfc546c16bce154e225ab5055a7d10e014f23ca	The most consistently present components include facial deformity, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+8f1073e22df6a3a4b5e704a4e14dd7e90f296aeb	asplenia, pulmonic stenosis, @DISEASE$, minor anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+fe139c8f16c36288233a2c8ea7b539f300a7ecfc	associated with @PHENOTYPICFEATURE$, @DISEASE$ and learning difficulties.	has_symptom
+4ecae81449514ec6319cedd4affa7bef7d05a572	Cerebellar gray matter differentiates children with early @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+02af88b2a596b49704802a1d52cf008a153b10cd	More is less: pitch discrimination and @PHENOTYPICFEATURE$ in children with optimal outcomes from @DISEASE$.	has_symptom
+e3de936060c1eef33bdf0cb88ae8485e2e061983	@PHENOTYPICFEATURE$ and impairment are salient features of @DISEASE$.	has_symptom
+ab57dc748bbc0228ae88d6dd612029950220550f	Consonant production patterns of young severely @PHENOTYPICFEATURE$ children with @DISEASE$.	has_symptom
+12222731e33805c09c01966e77232a2c344f7300	Intriguingly, this region coincides with one associated with @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+45efe5706b8a861907639375e937c02bedaeffee	16 cases (11.3%) presented @PHENOTYPICFEATURE$/@DISEASE$, but antiFMRP test was normal.	has_symptom
+f440099f45449e710fb86bcb5cec32650e0a64cf	Communication behaviors in @DISEASE$ and developmental @PHENOTYPICFEATURE$.	has_symptom
+51d816446bfef8daec67364e62b1016949f6db31	I was born in 1947 and had @DISEASE$ with @PHENOTYPICFEATURE$ until age four.	has_symptom
+d7e5c3c6e85966aafdae870bb3954c1d5eea198d	Joint attention and language in @DISEASE$ and developmental @PHENOTYPICFEATURE$.	has_symptom
+8e5a5579e548f44bdac9f4341ba348be206bc864	We report two patients with velo-cardio-@DISEASE$ (VCFS) who were admitted to our pediatric endocrinology clinic because of @PHENOTYPICFEATURE$ and followed longitudinally until attainment of final height.	has_symptom
+118df5f9223ddbd0cd2e2d165411c54f0c2d22cf	The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, @PHENOTYPICFEATURE$, cognitive impairment, and the typical craniofacial features of velo-cardio-@DISEASE$ (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	has_symptom
+10980e736af8f113b39f7aad04cfc4cdd625d30e	The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, short stature, @PHENOTYPICFEATURE$, and the typical craniofacial features of velo-cardio-@DISEASE$ (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+f6e462eb4560e113374c993940cd82e0523805a3	The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+1f5b2c849188c0abceb3eddf97a315b7cbf2d3c9	The proband is a white male who has @PHENOTYPICFEATURE$, shunted hydrocephalus, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-@DISEASE$ (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+0ebc4df13cba487457ced1705010a6288eda7b07	The proband is a white male who has @PHENOTYPICFEATURE$, shunted hydrocephalus, cleft palate, @DISEASE$, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+8b74452db1b3ff3e945d7de02d8771685d91158b	The proband is a white male who has spina bifida, shunted hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+d7cb8823c9a16bab835fcf4f80b6a3c00dbdcdc4	The proband is a white male who has spina bifida, shunted @PHENOTYPICFEATURE$, cleft palate, @DISEASE$, cognitive impairment, and the typical craniofacial features of velo-cardio-facial syndrome (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+8d05cfcdd128c5083d6ad08a5fb81975b00c9b6b	The proband is a white male who has spina bifida, shunted hydrocephalus, @PHENOTYPICFEATURE$, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-@DISEASE$ (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+7dea9117ee1d1fc2a7d48be88ed4a0cc91745cd9	The proband is a white male who has spina bifida, shunted @PHENOTYPICFEATURE$, cleft palate, short stature, cognitive impairment, and the typical craniofacial features of velo-cardio-@DISEASE$ (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+00a580b13f46c719a43c181ced46555a4291abd8	In addition, our patient developed @PHENOTYPICFEATURE$ and optic atrophy, two features not previously reported in @DISEASE$.	has_symptom
+8777c0e68cfcba8c774f6d93b0e58ee4408299a1	In addition, our patient developed microcephaly and @PHENOTYPICFEATURE$, two features not previously reported in @DISEASE$.	false
+3fc8f3627b91f23d713889466433d1afb8d112de	In addition, our patient developed @DISEASE$ and @PHENOTYPICFEATURE$, two features not previously reported in MEGDEL syndrome.	false
+1cc662efbd6b93607d6c1db5595fed91a34428c7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	has_symptom
+3196e80188ed2156c527d14ce19fb906eb790fb7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+b90d82d41af3217038c93b2ecc089765c560dcef	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+a83f9693cd88ba4fe38e8053ab03446efc2d0835	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @DISEASE$, and myoclonic epilepsy.	false
+824efc604950f08d707e791ef616a269355f0666	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, @DISEASE$, and myoclonic epilepsy.	false
+e90c975ce7171d9074c566b382cef8a674558994	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @DISEASE$, and myoclonic epilepsy.	false
+f3e3e08105dd250e70e4e723d6ab8a8460960c1f	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @DISEASE$, and @PHENOTYPICFEATURE$ epilepsy.	false
+5449a10eb7197005b664564eed1c7dbbaaaeae16	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, microcephaly, and myoclonic epilepsy.	false
+4f027a6b14abef10096c03f07f941552dfa28c24	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+36167ca59561827fd306c7a627c4f85a2e1ed816	Primary adhalinopathy (@DISEASE$): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+55b5de11855b73eba31c503b85261847a1414e84	@DISEASE$ (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+04b1b9b5af9b35564888a71df5b1dfaec8ec837b	@DISEASE$: a common cause of autosomal recessive @PHENOTYPICFEATURE$ of variable severity.	has_symptom
+4661aa38a478b3ee948cf4d9164c5b4a37794506	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, @PHENOTYPICFEATURE$, and cardiovascular abnormalities.	has_symptom
+12a27ec9535ede900e0d0da57f158d0764de743b	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @PHENOTYPICFEATURE$, developmental delay including prenatal and postnatal @DISEASE$, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.	false
+ad276f9108528e4dccae59ddd4140e5fa71483ef	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @PHENOTYPICFEATURE$, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.	false
+90a71c539a294b3dddf57d932497e0db3afcb4ee	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, @DISEASE$, and cardiovascular abnormalities.	false
+016a9f6bcef9906253219aaaa4270827e7ebb5ec	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal @DISEASE$, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and @PHENOTYPICFEATURE$.	false
+44a0589b47467dbdb640ce58b50586b100725ea1	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ba3fcbad29305dd56aec6b8ecb23e3263390ff1b	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @PHENOTYPICFEATURE$, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, @DISEASE$, and cardiovascular abnormalities.	false
+c625fc5948d4763c8366656c6a3b46c7b53f2761	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal @DISEASE$, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, seizures, and cardiovascular abnormalities.	false
+7907749a178cbb43220410d22582b9bb41cb2cb7	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, seizures, and cardiovascular abnormalities.	false
+e701a4c6970019fef8d1f51849173bd117a421a7	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and @PHENOTYPICFEATURE$.	false
+ef3d6bfd1dfaf6feeb164ee2e828f841745359b7	Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich's @PHENOTYPICFEATURE$, @DISEASE$, and Charcot-Marie-Tooth disease.	has_symptom
+9eecbeeeaba359695b358a04044170775cda73fe	Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, @DISEASE$, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome.	has_symptom
+503c8d5494233706147e7c7e801378e88f740d00	Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's @PHENOTYPICFEATURE$, familial dysautonomia (@DISEASE$), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity.	has_symptom
+05d806e8ba51eec1d99514faa2829f74fdec21de	Children with progressive neurological conditions such as spinal muscular atrophy, Friedreich's @PHENOTYPICFEATURE$, @DISEASE$ (Riley-Day syndrome), and Charcot-Marie-Tooth disease have a significant risk of acquiring a serious spinal deformity.	has_symptom
+4e248be3b63d4977ad6d37f8305d00e18589b006	Patients with @DISEASE$ (HSAN III) exhibit marked @PHENOTYPICFEATURE$, including gait disturbances.	has_symptom
+2cde80670b0a4cd03ee6cd43a6939bfaa743da2c	Patients with @DISEASE$ (HSAN III) exhibit marked ataxia, including @PHENOTYPICFEATURE$.	false
+f3e0e9751c680dcb084119efcda484374246eab5	Patients with hereditary sensory and autonomic neuropathy type III (HSAN III) exhibit marked @DISEASE$, including @PHENOTYPICFEATURE$.	false
+08bcc5e0e6cbe3f7bd0b1e5f2aefdcf60703fc64	@DISEASE$ is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic @PHENOTYPICFEATURE$ when catabolism is prolonged.	has_symptom
+008c320cfe70ed93931a12d92501eac2d02130c6	Propionic acidemia is often manifested during the neonatal period with @PHENOTYPICFEATURE$, failure to thrive, lethargy, and hyperammonemic @DISEASE$ when catabolism is prolonged.	false
+261ce41fd2c8e26fbd76981a5dec1b5ab88da0fc	Propionic acidemia is often manifested during the neonatal period with vomiting, @PHENOTYPICFEATURE$, lethargy, and hyperammonemic @DISEASE$ when catabolism is prolonged.	false
+054342a50aacadfee0405a4bb54607ad6851d2ee	@DISEASE$ is often manifested during the neonatal period with @PHENOTYPICFEATURE$, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged.	false
+0a94c9709ded67e6542df52f1b75840e12e8e15a	@DISEASE$ is often manifested during the neonatal period with vomiting, @PHENOTYPICFEATURE$, lethargy, and hyperammonemic coma when catabolism is prolonged.	false
+e5ad21c3a7793938bf15aa8b6d84b66195aebed1	The role of iduronic acid in chondroitin/dermatan sulfate is highlighted by the vast changes in connective tissue features in patients with a new type of @DISEASE$: adducted thumb-@PHENOTYPICFEATURE$ syndrome.	has_symptom
+2e531037f34ac85c03b490bbd95a21d407a7da4e	Electrolyte therapy for refractory @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+91bf6a196c50adba3e3a27961d07a07159780995	Rice-based oral electrolyte hydration therapy may play a role in prevention and control of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+35e5e88ecada1232e78ae9881aba55b58993e917	@DISEASE$ is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, @PHENOTYPICFEATURE$ and angle disorder, blue sclera), and acroosteolysis of the distal phalanges.	has_symptom
+de988621d6d41962bc2ef3bf7fe0c45c7dd7764f	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges.	false
+6047bcd80bbbcdc88ab46f64dc2457180d0aa095	Pycnodysostosis is characterized by @PHENOTYPICFEATURE$, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, @DISEASE$ and angle disorder, blue sclera), and acroosteolysis of the distal phalanges.	false
+010fafdfa5a7f37d323aab12f871f0fed635e602	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	has_symptom
+9fd201a6c3193e6ba93b9bc9904637c465596a37	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, @DISEASE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+d406a4d7b680306dd298cd6ac36ff64e05754842	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+3d12f327f5e57629548d10f0fcb68c94bac65131	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+0bd9ce7de931de49fbe79394d2090aa7e5f34e74	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+f0db01920aab43b8ab237345c116d89d60020821	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+286e97089197a4f672ee0e7a4487ac6c9cab0cad	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+9cd25bb01eb4d4075527fa662c5460ee7f8b456d	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+cf56026e5a1fdea417d50b09bd0945b981372d6e	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @DISEASE$, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+8026bd16845de2e40468602950699ef70b53e853	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (@DISEASE$).	has_symptom
+0fe385fe9919da2d0fff07241f5325936fbcd92b	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+ee9572c65294ae0a0e0548322da0a52bf8f4d2b4	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, @DISEASE$, and sensorineural hearing loss (CAPOS syndrome).	false
+5eea251a643ea7f9d1fd14c08be2ca068663c3a6	ATPase) are associated with rapid-onset @DISEASE$-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS syndrome).	false
+98cc7d3988f735c0652cbc17415dc36803fca5bc	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (@DISEASE$).	false
+497cec0d57d888204a3864e80c88e484ed7eda84	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @DISEASE$, and @PHENOTYPICFEATURE$ (CAPOS syndrome).	false
+e59e41859b43eab149895aed89e92accb033bdd1	ATPase) are associated with rapid-onset @DISEASE$-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome).	false
+2a546045507fccb6d28ac909d401a9591a25a134	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	has_symptom
+41efdfcab1661dbe7608341457418ae8ec48de5f	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare disease that has been reported in 22 patients so far.	false
+44693c65b656ad2903563070466f83a6fb1dee3e	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, @DISEASE$, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	false
+8e03deb8ffb61290c318f0c73bb13f5866168373	@DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	false
+5e70164f9fa2edff5023e56c1de3b9f960f0b5db	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @DISEASE$, and @PHENOTYPICFEATURE$) is a rare disease that has been reported in 22 patients so far.	false
+a9a72a4cadd6f7180fc4f88e7c5ee273365414b6	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	has_symptom
+cc19a2443afe059e321bd17c8069e81c75ea56ad	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+802334f55c47cbbdd1a2d80769928fa9633d3db3	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	false
+a6b5fd3d9efbd036a3ec26a3b97134083a695594	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+997a8a397a41e2e255fd9819c61a96da6b63fc28	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	false
+bff20dfa688f70d5728bfd06cb32ad695c9295c5	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, @DISEASE$, and Sensorineural hearing loss).	false
+a667f647668cdcea394fb50f6531227cfbe3d14e	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+ec98ea4d101554e954d5790b2e5936841a6d14ce	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	false
+9863696873ec5ca1fe7da1e53e0e03b3b2120ece	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+ec3fc8cbd53b15bd169235b6e784d291c1f75ed2	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	has_symptom
+589734da1413d0218e9d3c97ce892e68696a0280	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+480ec8d434f40c89e2621b092384fadad5ec86fe	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+117983232ad7dbb58631895d708f1b74aa0f29cc	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	false
+f160afaed66e8c1976815caf258ebc11005e522a	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+eac58339cbc2b9feebcc261031829915691694a2	@DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+1cda39ee8874a9a9dd1de6f2f573db8d17b9f425	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @DISEASE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	false
+292da7d3ed6b1ce552c4774c90aee3f38a392e9a	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @DISEASE$, and @PHENOTYPICFEATURE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+2dc8f8457c6b57b796c4fb9a0bc06e531e851ff4	CAPOS syndrome (@PHENOTYPICFEATURE$, areflexia, pes cavus, @DISEASE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+d0b5c3fa5164a6fd1fbe4762505a74de6036b066	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	false
+f5627ef3ce70fd5ed93e0cbcb7b49db0187dc19e	Auditory hair cell defects as potential cause for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3701c2a5b3f0741db15ddbb96dcf2c1ba8470019	Propionic acid (PA) accumulates in patients with @DISEASE$, an inherited metabolic disorder caused by the deficiency of propionyl-CoA carboxylase activity that is clinically characterized by neurological dysfunction, including @PHENOTYPICFEATURE$.	has_symptom
+5cb12b333c2b0cf4c6dc13a39f735827d69624a8	Valproate in the treatment of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+1bf32e6a3b450060e37ddd725b54f315931b53ee	@DISEASE$ (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, @PHENOTYPICFEATURE$, optic neuropathy, and cranial nerve abnormalities.	has_symptom
+347af3b78203f6f762ff6ca61462186517fa954c	@DISEASE$ (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, @PHENOTYPICFEATURE$, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities.	false
+35821db4c3337e2886ad63e44a37c63851c65b44	Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, @PHENOTYPICFEATURE$, structural abnormalities, metabolic stroke-like episodes, @DISEASE$, optic neuropathy, and cranial nerve abnormalities.	false
+d97a6ee2548bd05f77da617d4f60d69405e07b6f	Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, @PHENOTYPICFEATURE$, structural abnormalities, metabolic stroke-like episodes, seizures, @DISEASE$, and cranial nerve abnormalities.	false
+25e0e8f64685ddcedad0b679541cd2b6de9824f6	We conclude that @PHENOTYPICFEATURE$ is not an uncommon finding in patients with @DISEASE$ and not difficult to control.	has_symptom
+4d4791e0a23081d1a5f08611908b96e2c70fb54a	A 21-year-old white man, with @DISEASE$ and @PHENOTYPICFEATURE$ treated with phenytoin and carbamazepine, was started on isradipine for essential hypertension.	has_symptom
+9d88277c9f66f623748b44c00c263eaf150929c2	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, @PHENOTYPICFEATURE$, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and obesity.	has_symptom
+30b92fe380d11bc24d2c047a2f04b2310efad6bc	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and @PHENOTYPICFEATURE$.	false
+16acd9c39e473005b7332815e17cd2bce3b44a98	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, @DISEASE$, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+fd4fcc9b50cf9bd2689f82b394562411f05e91e7	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, @DISEASE$, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and @PHENOTYPICFEATURE$.	false
+57987af4d96095f9d526e69f62969f9ab664a047	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal @DISEASE$ as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and @PHENOTYPICFEATURE$.	false
+ed67bc10d5c5399808153e99e15c9f7345318250	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal @DISEASE$ as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+e950a4e1887e6fe888dce1f26b9199286664f27c	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+410c6688ea48a645b1ae0ef1b8aa10825b19ecb9	Family and medical histories, autistic and dysmorphic features, and neurological status of 5 children with @PHENOTYPICFEATURE$ and hyperlexia and 5 sex and IQ-matched children with autism and no @DISEASE$ were compared.	has_symptom
+dde3c442c254effdd86ab29037bf945e6335f1ed	Family and medical histories, autistic and dysmorphic features, and neurological status of 5 children with autism and @DISEASE$ and 5 sex and IQ-matched children with @PHENOTYPICFEATURE$ and no hyperlexia were compared.	has_symptom
+721e1d26b8b7935d392518524752e84583c48e31	Family and medical histories, autistic and dysmorphic features, and neurological status of 5 children with autism and hyperlexia and 5 sex and IQ-matched children with @PHENOTYPICFEATURE$ and no @DISEASE$ were compared.	has_symptom
+f2a1d23a6123e641159c15dfc25e45648191f21a	Family and medical histories, autistic and dysmorphic features, and neurological status of 5 children with @PHENOTYPICFEATURE$ and @DISEASE$ and 5 sex and IQ-matched children with autism and no hyperlexia were compared.	has_symptom
+2f8b044272effeded498a76e80fe298240f7200c	@DISEASE$ was often reported in children with pervasive developmental disorders including @PHENOTYPICFEATURE$.	has_symptom
+b3a9ef22256c9e5d4aeb19b6691100352e342324	Results suggest that children with @PHENOTYPICFEATURE$ and @DISEASE$ probably represent part of the continuum of autism rather than a specific syndrome.	has_symptom
+169a20dbf2509fddd5b150a46a34175265115230	These twins highlight the relationship between @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3d8a6b3f6bfcb4944171846f531f6d85b1cf500a	Monozygotic twins concordant for @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0f89c89c5f15cc93af3806c93327badf64691fff	Since there were no differences between autistic and nonautistic readers on any of our tasks, we conclude that @DISEASE$ is not an @PHENOTYPICFEATURE$-specific phenomenon.	has_symptom
+5c0866e23c167d1389750da48dd0fea4096e80bf	However, not all autistic individuals present @DISEASE$ and not all children with hyperlexia present autism, although evidence shows that hyperlexia is a phenomenon that is observed with greater frequency in @PHENOTYPICFEATURE$ and in ASD.	has_symptom
+bbc4e4f24cc49f0ab0ffd55675f1ff1ab548a0da	However, not all autistic individuals present hyperlexia and not all children with hyperlexia present autism, although evidence shows that @DISEASE$ is a phenomenon that is observed with greater frequency in @PHENOTYPICFEATURE$ and in ASD.	has_symptom
+93f5d59f61a8e6a257f7d85f7e2fcaa7a7ba7a9c	However, not all autistic individuals present hyperlexia and not all children with @DISEASE$ present autism, although evidence shows that hyperlexia is a phenomenon that is observed with greater frequency in @PHENOTYPICFEATURE$ and in ASD.	has_symptom
+e0808279cf03d89e8659ec0f92128a6f9336c114	However, not all autistic individuals present hyperlexia and not all children with hyperlexia present @PHENOTYPICFEATURE$, although evidence shows that @DISEASE$ is a phenomenon that is observed with greater frequency in autism and in ASD.	has_symptom
+6d4859816c3b180544988a483693207b54c92044	However, not all autistic individuals present hyperlexia and not all children with @DISEASE$ present @PHENOTYPICFEATURE$, although evidence shows that hyperlexia is a phenomenon that is observed with greater frequency in autism and in ASD.	has_symptom
+921b7f7bc8f40135d92c2bc37d27a8ec13cd8291	However, not all autistic individuals present @DISEASE$ and not all children with hyperlexia present @PHENOTYPICFEATURE$, although evidence shows that hyperlexia is a phenomenon that is observed with greater frequency in autism and in ASD.	has_symptom
+62c776a69a7b44d067e57cbdac7f401f5d59e42c	The condition of @DISEASE$, often associated with @PHENOTYPICFEATURE$, is a rare disorder in which children read words precociously but show little comprehension, markedly poor language, behavioral, and interpersonal skills.	has_symptom
+d3c7101b769a091bc90d71572a77f367e2085b4c	The authors describe male monozygotic twins, Jon and Jay, who are concordant for @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5e6ba20a524411f9f6cdb8bc8b81fec1ca2a5e3f	This study aimed to provide early childhood special education professionals with a standardized and comprehensive language assessment tool for the early identification of language learning characteristics (e.g., @DISEASE$) of young children with @PHENOTYPICFEATURE$.	has_symptom
+e609c9a7c766a4ab8f51956f73df1f8284f106a4	@DISEASE$ is a chemoresponsive @PHENOTYPICFEATURE$.	has_symptom
+12d4dc191848a9b7c1fd481609224b31b60f25b6	Magnetic resonance @PHENOTYPICFEATURE$ volumetry in @DISEASE$.	has_symptom
+72b35b27032110d3c1ebc3e07bc81b1954e3f1ab	CYB5D2 displays @PHENOTYPICFEATURE$ suppression activities towards @DISEASE$.	has_symptom
+350a8a1d4def67daadde23f323fd63491bf83062	@PHENOTYPICFEATURE$ hypoxia in pelvic recurrences of @DISEASE$.	has_symptom
+41a377c69b7494847ecb9d758ff7d50feb636c90	Circulating @PHENOTYPICFEATURE$ markers in @DISEASE$.	has_symptom
+2fb7ecbc9308f3dcbc20eed39b38cdb72b0474a5	[@DISEASE$ and DNA microarrays: @PHENOTYPICFEATURE$ marker identification].	has_symptom
+0954a5868f1d0bc9d5902b7dd42a44cd29c4cdc8	Immunosuppressive @PHENOTYPICFEATURE$ microenvironment in @DISEASE$ patients.	has_symptom
+5e65c4008e94f2e9b9ccaed5ae87275927dd5014	Treatment of @DISEASE$ in local @PHENOTYPICFEATURE$ clinics.	has_symptom
+a1699ae2976ce030e6ce432be3c904b97b6b2895	Spontaneous @PHENOTYPICFEATURE$ lysis syndrome in @DISEASE$.	has_symptom
+9687f5abd37e7a1ee972f64359e6fa7e1b26a6d5	Subacute pulmonary hypertension and systemic @PHENOTYPICFEATURE$ embolism from @DISEASE$.	has_symptom
+d6f05041b48e66408543f1e47752ed8080015e4c	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	has_symptom
+5ffe20f3025686d7b8d79efd9dfb7bb646f88ea9	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+f1ec9800b88110412305f70d901692d934b7ff8d	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+8381f249e769d32687d6d7871c6fb55e13995ab2	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @DISEASE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+853d86b683532ed3286a5a11ce485c20edd67c0c	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+e48455b8e8e3a0039f90b113e19ad87636d63063	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+e541082b9bfe7ff04bbce2b1bfdc19b5acc87477	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+7699e9546dcda8b311f93c243eddc7bf3dc6bcd0	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, @DISEASE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+febb497808bae9075e4a0a2aac8bf332fb1c6df5	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+bbc5bd1f2d5a01d5d8559aa1ac4d81e70e8fba72	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+99f6ec4f1d8ecd0716871aedcb4559b344aa6590	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+7f3d5d190d9668350dac5bd6757ca715814c9f93	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+2a2ec588c7b648c57818e6d37989d915fff88d9f	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+a283d5e210a06879fe2e02c386a18bee9e9d223a	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+bb2a61e0ad5ec0c7e27a93dbfe58e73eb07efd30	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+b9eaad13292b652150e0bf3d7f49a03a235c4223	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @DISEASE$, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+b9c5ac6913fb88cd986ed56bc7e199df297c72ce	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+0ce194606adf427093bd5ff6c58c959c30971064	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+6a38a48753d21867c2d758147a2ead470b25f3fc	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+95bbec1265ee9c90d07c5a640dc64319210c7d06	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, @DISEASE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+c7db33430e3776ea2069b80d9da0383ef3ba5cc6	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+e7c253af8451b5defd8104929dcf01138e307b97	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	has_symptom
+13a8bc3cdf23f63dee297d91595f2c7f87fb7a39	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+0bfd56412b8477b79668414cb4d43497d64f6277	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @DISEASE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+2d30a8db17d4e01e4f094836e60a87288374176b	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the @DISEASE$.	false
+379c0eb86400aeb52334803c4d105309f3e867b3	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @DISEASE$, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+a52b56a484526ce90ac967e9f5110e4140e9f569	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+08c5b59a8dcd58cc2d10e21f5942a843f8bc7f5a	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+d8c2e17c334ae671caa7092fb9e5a741082ce7b4	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+24d816e1a34cbceb4dced7292018a75da59d138e	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+7aa39f22259d8d1163e77385478c506d34479bff	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+f5fac16694fbd159bd1b4885859b3480b507d236	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+590b951e242055f098ba58ea75855ec2a94613d8	The clinical-stage therapeutic vatiquinone (EPI-743, ?-tocotrienol quinone) was reported to reduce @PHENOTYPICFEATURE$ frequency and associated morbidity in children with the mitochondrial disorder @DISEASE$.	has_symptom
+74f6058fc52e5c8594bb3821ce8db1711d8be9ff	@DISEASE$, an autosomal dominant disease characterized by ataxia and @PHENOTYPICFEATURE$, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat.	has_symptom
+6befe5cb4d9d59681909d59857eea6a3513984a9	Spinocerebellar ataxia type 10, an autosomal dominant disease characterized by @PHENOTYPICFEATURE$ and @DISEASE$, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat.	false
+ebd229b891e29ff94cc1553b66dad8ccd008746d	Spinocerebellar ataxia type 10, an @DISEASE$ characterized by @PHENOTYPICFEATURE$ and seizures, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat.	false
+e3e38bf729377e952f0dc6502549f99a219d5dee	@DISEASE$, an autosomal dominant disease characterized by @PHENOTYPICFEATURE$ and seizures, is caused by a large expansion of an unstable ATTCT pentanucleotide repeat.	false
+1c20cb6501a0df48f3a81d068addb4ab5ca48209	@DISEASE$ (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by cerebellar ataxia, dysarthria, ocular dysmetria, and @PHENOTYPICFEATURE$ in some populations.	has_symptom
+67afb2560f98aadfcc2540d648456a9a486ac5a5	Spinocerebellar ataxia type 10 (SCA10) is a rare dominantly @DISEASE$ characterized by @PHENOTYPICFEATURE$, dysarthria, ocular dysmetria, and seizures in some populations.	false
+1c313ef718720e4020f919c77f18338a1c410bf1	@DISEASE$ (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, dysarthria, ocular dysmetria, and seizures in some populations.	false
+c56c6ec668bb96f36c7788d0aab6ff316017f544	Spinocerebellar ataxia type 10 (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, dysarthria, ocular dysmetria, and @DISEASE$ in some populations.	false
+b4dd27280b49b4d95a8293924d3e2be90248e70c	Repeat interruptions in @DISEASE$ expansions are strongly associated with @PHENOTYPICFEATURE$.	has_symptom
+7f6a022cc88e6c854a35ec8373818953f749c22d	@DISEASE$ (SCA10) is an autosomal dominant disorder characterized by ataxia, @PHENOTYPICFEATURE$, and anticipation.	has_symptom
+5cf46f513604a5457fe6c7ccce2e453de3f4282e	@DISEASE$ (SCA10) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, seizures, and anticipation.	false
+13a4893ac8d00148fc583a2ced1f62651e09bfc9	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and anticipation.	false
+9a46d7176d33ec765156ed52bb2d68484b62efc3	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disorder manifested by ataxia and @PHENOTYPICFEATURE$.	has_symptom
+82ac2a193a0dd54c4315a33623d876047d852c4b	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disorder manifested by @PHENOTYPICFEATURE$ and seizure.	false
+519eaadde0039f7571022e9467fc2f2d0e0ad292	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder manifested by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ed737635040e22f54c07708d16f7c5cf924bb537	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+b5852e5a6bd0acec4ca405d9ca84d3367f115f03	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disease characterized by @PHENOTYPICFEATURE$ and seizures.	false
+63b01a8c2cc30a7efcccf0ee77e2dee0d285fffb	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$ and seizures.	false
+28b583438c26ba8f619ec75c72e3ce9fc2f8fea6	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4a87898f9e7b1ebe01e1e72bf0f26454efd0a844	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disorder manifested by ataxia with a variable presentation of @PHENOTYPICFEATURE$, which is caused by a large expansion of an intronic ATTCT pentanucleotide repeat in ATXN10 on 22q13.3.	has_symptom
+c7df4714bf28dec7cc926a6b0ed99fc56f92168c	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disorder manifested by @PHENOTYPICFEATURE$ with a variable presentation of epileptic seizures, which is caused by a large expansion of an intronic ATTCT pentanucleotide repeat in ATXN10 on 22q13.3.	false
+10f9fc93a9967df0ce15733a3cd8bbdb418aa0d6	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder manifested by @PHENOTYPICFEATURE$ with a variable presentation of @DISEASE$, which is caused by a large expansion of an intronic ATTCT pentanucleotide repeat in ATXN10 on 22q13.3.	false
+3695d481bb6b5c6f1ef597b9d7b4797c35564dc3	@DISEASE$ (SCA10) is an autosomal dominant progressive disorder characterized by ataxia, @PHENOTYPICFEATURE$ and anticipation, mapped to chromosome 22q13.3.	has_symptom
+cd24495dde61aca932db5c351b8b839481863d14	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant progressive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$ and anticipation, mapped to chromosome 22q13.3.	false
+b29fa606a1722cf4759bb3f8124ba6c41b5f5363	@DISEASE$ (SCA10) is an autosomal dominant progressive disorder characterized by @PHENOTYPICFEATURE$, seizures and anticipation, mapped to chromosome 22q13.3.	false
+52f4303a605f03ecf39e3398d239cd261b4ea599	@DISEASE$ (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+a5b69e5a10a8e560a602e128d6adc3c302c7c98f	Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dea3b9f19e9acc4b57bea107ea5eafd057cc92c7	@DISEASE$ (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and seizures.	false
+c6e8e9db070084f06190a8fc6304e0b15292862c	@DISEASE$ (SCA10) is an autosomal dominant disorder characterized by cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+dffe8707474ce7040809f75a9eb7aaf26fb216f2	Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+afffe6f71da67a6c2b06d6099ae8161e90a7f8e9	@DISEASE$ (SCA10) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and seizures.	false
+f18882456f77af18fd77ac23d3cea6b535f5d1d9	Recognition of @PHENOTYPICFEATURE$ as a part of @DISEASE$ and the easy visualization of fetal facial bones in the second trimester made diagnosis possible.	has_symptom
+d9650778af13e29b86785a35a769497f02cdfe68	The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, @PHENOTYPICFEATURE$ and urinary anomalies, indicating @DISEASE$.	has_symptom
+836564447f6cabedfe3fde40b6fc0e7a770a6ff7	This result, together with those of a recent study showing no abnormality of [11C]flumazenil binding interictally in patients with childhood and @DISEASE$ (JAE) does not support a primary role for the BZD binding site of the GABAA receptor in the pathogenesis of @PHENOTYPICFEATURE$.	has_symptom
+db85ebc878dc4ceebc589537c1d592435f00f600	In this paper, the case which has never diagnosed until now in spite of many @PHENOTYPICFEATURE$ for years, applied for absence seizures to our clinic and diagnosed for @DISEASE$, has been discussed.	has_symptom
+549cd70294f7d0214f1ba51eb13729b2adf48688	In this paper, the case which has never diagnosed until now in spite of many absence seizures for years, applied for @PHENOTYPICFEATURE$ to our clinic and diagnosed for @DISEASE$, has been discussed.	has_symptom
+de9241f00d71c28baefc5f4200907aaccf18ad12	@DISEASE$ (JAE) is a generalized form of epilepsy, characterized by @PHENOTYPICFEATURE$ (AS) initiated in adolescence, with a typical EEG showing generalized spike-wave discharges.	has_symptom
+b15bcc320e8854e5af98a438ec4fbeecc88c1e8c	An association analysis at 2q36 reveals a new candidate susceptibility gene for @DISEASE$ and/or @PHENOTYPICFEATURE$ associated with generalized tonic-clonic seizures.	has_symptom
+eb5826094f55777b2ba15819431fa975fa9da0b9	An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+ba29be1cebd26fd5e52e3a13b72498dbf989a6be	An association analysis at 2q36 reveals a new candidate susceptibility gene for @DISEASE$ and/or absence seizures associated with @PHENOTYPICFEATURE$.	false
+c0a5bba714fba78e93b16331ceb5c4f97760bc97	In this prospective clinical study, the effects on cognitive functioning of @PHENOTYPICFEATURE$, epileptiform EEG discharges, and their abolishment by antiepileptic medication were evaluated in patients newly diagnosed with childhood absence epilepsy or @DISEASE$.	has_symptom
+bce7449a61e7ed1164fd9363245ee3b2a3a83201	@PHENOTYPICFEATURE$ in succinic semialdehyde dehydrogenase deficient mice: a model of @DISEASE$.	has_symptom
+c28b1f5b29017d0512dd97cc501d5dba39d66960	Individuals fulfilling diagnostic criteria for childhood absence epilepsy (CAE) and @DISEASE$ (JAE) were selected from a large group of patients who were born between 1945 and 1973 and had presented with @PHENOTYPICFEATURE$ (AS).	has_symptom
+e677da1f9a76f8f75f26aea64ea2b2b718e6bc00	These results suggest a significant contribution of local cerebellar and cerebellar-midbrain connections to @PHENOTYPICFEATURE$ impairment in @DISEASE$.	has_symptom
+2287cf1b83195966368f5b15e844ed508cc17533	@DISEASE$ (SCA7) represents a very rare and severe autosomal dominantly inherited @PHENOTYPICFEATURE$ (ADCA).	has_symptom
+af5953af71c15893d758c882599b7844787c0fa6	@DISEASE$ is a neurodegenerative polyglutamine disease characterized by @PHENOTYPICFEATURE$ and retinal degeneration.	has_symptom
+8957afa0c2b2ee240eae51f6c818c6a9914e74c9	@DISEASE$ (SCA7) represents a rare and severe autosomal dominantly inherited @PHENOTYPICFEATURE$ disorder and is among the known CAG-repeat, or polyglutamine, diseases.	has_symptom
+9fbce2f2fbe44c2a77012213034e15510a4c2017	Specific cerebellar and cortical degeneration correlates with @PHENOTYPICFEATURE$ severity in @DISEASE$.	has_symptom
+3fdecf7eaa9c678a153f09d2f39982808d30fafa	Phenotype variability and early onset @PHENOTYPICFEATURE$ symptoms in @DISEASE$: comparison and correlation with other spinocerebellar ataxias.	has_symptom
+998ae44f2831dce447f916e029fd01f54a9401d8	@DISEASE$ (SCA7) is a late-onset neurodegenerative disease characterized by @PHENOTYPICFEATURE$ and vision loss with no effective treatments in the clinic.	has_symptom
+db28279ccbf4c15cc83f4280d12e317e47e1466a	First we wanted to test if patients with @DISEASE$ (SCA7), a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and visual loss, also have olfactory deficits.	has_symptom
+6f4d1a6c28163f02a990222fb109f4fe908dcfd9	First we wanted to test if patients with @DISEASE$ (SCA7), a progressive neurodegenerative disorder characterized by cerebellar ataxia and @PHENOTYPICFEATURE$, also have olfactory deficits.	false
+285c254df2ce1acc5f52b63a7c4ef6d505a68873	First we wanted to test if patients with spinocerebellar ataxia type 7 (SCA7), a progressive neurodegenerative disorder characterized by @DISEASE$ and @PHENOTYPICFEATURE$, also have olfactory deficits.	false
+cd1c5279e76b0e23fae890fa25943bd02b8d7a15	@PHENOTYPICFEATURE$ Severity Correlates with White Matter Degeneration in @DISEASE$.	has_symptom
+b6a41d8332a80452a1c2ec861663d3c2e3a5b9e4	@DISEASE$ (SCA7) is a progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and visual loss.	has_symptom
+dd2385528895c92f0d45171265de47a71172cb35	@DISEASE$ (SCA7) is a progressive neurodegenerative disorder characterized by cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+972334158b25fc64183053faf71df6d2bd5ee379	Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b4ef62cca7d2207f6a6e6e196cb4015257bbefc7	Four case reports are presented in which serious @PHENOTYPICFEATURE$ was remediated with the application of scleral contact lenses: kerataconus, Terriens marginal degeneration, penetrating keratoplasty from Fuchs' dystrophy, and @DISEASE$.	has_symptom
+05c000c1ffad693385b0a63f06afdae119abc905	3. Elucidation of the pathogenesis of @DISEASE$: Studies have shown that there is a close relationship between corneal epithelial stem cell loss and the associated degree of @PHENOTYPICFEATURE$.	has_symptom
+f6303673b9ce5923b8557dee719902d20b33ba51	This retrospective study included 72 patients, and the study sample of 102 eyes was divided into the following three groups according to diagnosis: 29 eyes with pseudoexfoliative syndrome and @DISEASE$ eyes with POAG and @PHENOTYPICFEATURE$; and 37 eyes with pseudoexfoliative glaucoma and cataract.	has_symptom
+f7a93ce988abec1bcf635fbf1484e9235d051dd1	This retrospective study included 72 patients, and the study sample of 102 eyes was divided into the following three groups according to diagnosis: 29 eyes with pseudoexfoliative syndrome and @DISEASE$ eyes with POAG and cataract; and 37 eyes with pseudoexfoliative glaucoma and @PHENOTYPICFEATURE$.	has_symptom
+2184ad11064fa1236bb5682b1e042477c890c525	In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, @DISEASE$, and isolated @PHENOTYPICFEATURE$ sequence.	has_symptom
+6a70bfce31655ffdf84618397514126e84cb0b6e	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	has_symptom
+c3dcee3e2654306fb1a8fbb83329977f59b1cb38	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+f41579f769cbcb3f9956aed0cfd0a173ec6bbc74	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+529e2c046d606faeacbb71d685907ef6913cebb4	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+034bd0695a2b84d6553829eb92f9550d27478362	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+98f7eff638241837e7c1bf497970a8c3cc2c7e83	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+4e4323d1cc92fc607914f0b627551ed0b09add9c	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @DISEASE$.	false
+6a7a5bed37d006dfb51f7d76bc6344568b4a67e2	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+4d3e883cffaa2ec3d2cffaf69e4e1dae6c277822	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional @DISEASE$.	false
+1796ff5167870fb2e87759c02db9c78e9eacf551	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+9f78ca67ee4893183db5d959b875bb2507390504	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+0194be08664008717f5b47b507d509c18346af1b	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+e584d00a7b1a34b30bd3377d45c0e90a3eaaaeaa	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @DISEASE$.	false
+a146a2c645203655d7f3796ec691693b9f60b8d5	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional @DISEASE$.	false
+b0e5252705fc961aafb3679a5eb930adada581a5	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+d1c30220396025864b65acc91cb2a02e964b7576	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+3aa3e2e795674a2d733127513df29dc29d7aa426	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+a4388a2823658281037d35b685c7f2119d874ab4	Patients with hematologic diseases are the most risky candidate for S. maltophilia @PHENOTYPICFEATURE$ or sepsis because of chemotherapy-induced neutropenia or @DISEASE$.	has_symptom
+847a482b938011dd37e31ad533d714e866acffc7	Early childhood @PHENOTYPICFEATURE$ and underlying conditions such as @DISEASE$ and primary ciliary dyskinesia need to be considered in the aetiology.	has_symptom
+32343bc55abd8f06684b40e220e3f7e3564df398	The differential diagnosis includes cystic fibrosis (CF), @DISEASE$, complement deficiency, allergic bronchopulmonary aspergillosis, alpha-1 antitrypsin disease, repeated aspiration pneumonia, foreign body, bronchial carcinoid, unresolved right middle lobe @PHENOTYPICFEATURE$, and primary ciliary dyskinesia (PCD).	has_symptom
+ee600357a505568653959bad53076b78defcdf8f	Four children from two unrelated kindreds died of severe pulmonary disease during infancy following viral @PHENOTYPICFEATURE$ with evidence of combined T and B cell @DISEASE$.	has_symptom
+04a2956429727069a4658e0119c71838d3a887e7	Early childhood @PHENOTYPICFEATURE$ and underlying conditions such as @DISEASE$, primary ciliary dyskinesia(PCD), and congenital lung pathology should be considered in the etiology.	has_symptom
+4cda33003d6adc9e94f9943ed2bb3beda5671a82	Four of the foals, on histopathological evidence, had adenviral @PHENOTYPICFEATURE$, in 2 foals there was histopathological evidence of an @DISEASE$ and an adenovirus was isolated from 1 foal.	has_symptom
+32e242f2268ae6106230ee6b921dec9234d19145	Recently, we reported a novel mutation (Cys145-->STOP) in Bruton's tyrosine kinase in a 51-year-old man who was referred for evaluation because of chronic nasal congestion, recurrent sinusitis, sporadic @PHENOTYPICFEATURE$, and a family history suggestive of an X-linked @DISEASE$.	has_symptom
+27dff50cb0fa13f841919d6c29ced4b010a437af	Proliferative interstitial @PHENOTYPICFEATURE$, Pneumocystis carinii infection, and @DISEASE$ in an adult Paso Fino horse.	has_symptom
+9795d822fea7d5af2917a6b0bc494e98a897295b	@DISEASE$ is a skeletal dysplasia with extreme, @PHENOTYPICFEATURE$.	has_symptom
+cd3270b53c2a7507761f017865e42ece75591fa7	@DISEASE$ is a @PHENOTYPICFEATURE$ with extreme, disproportionate, short stature.	false
+8534f10e09df83cb79560467b96b8ae35df77f61	Achondroplasia is a @PHENOTYPICFEATURE$ with extreme, @DISEASE$.	false
+88ff263111e7011fc8e4dbc05eb87cfceaa9d1dc	@DISEASE$ is the most common reason for @PHENOTYPICFEATURE$.	has_symptom
+aa4bb1f46193d30852fc647012993aa0cefa9b19	@DISEASE$ is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, frontal bossing, rhizomelia, and trident hands.	has_symptom
+6d45675a30a26b15c9ab2ae62c2b803614f09576	@DISEASE$ is a genetic disorder that inhibits endochondral ossification, resulting in @PHENOTYPICFEATURE$ and clinically significant medical complications.	has_symptom
+996fa7f93e0b05c386f98546892024ec201eea41	@DISEASE$ is the most common condition associated with @PHENOTYPICFEATURE$.	has_symptom
+0ef1a25f34678ddfeb231b2aaeeeee7af90a15c5	Lower limb lengthening in patients with @PHENOTYPICFEATURE$ with @DISEASE$: a systematic review of the last 20 years.	has_symptom
+54f8f91224da59fcf29699c60b0558bdf69e46ef	@DISEASE$ is the most common form of skeletal dysplasia, resulting in @PHENOTYPICFEATURE$, and affects over 250,000 people worldwide.	has_symptom
+b2fb485bce0b581c92b78d57a7e3b53459a2af45	Achondroplasia is the most common form of @PHENOTYPICFEATURE$, resulting in @DISEASE$, and affects over 250,000 people worldwide.	false
+94742a2d654f92b83e90db258f143e0229f12110	@DISEASE$ is the most common form of @PHENOTYPICFEATURE$, resulting in disproportionate short stature, and affects over 250,000 people worldwide.	false
+894a944fca9e96075c179e4c27d6d52e45282703	@DISEASE$ is the most common form of inherited @PHENOTYPICFEATURE$.	has_symptom
+894a944fca9e96075c179e4c27d6d52e45282703	@DISEASE$ is the most common form of inherited @PHENOTYPICFEATURE$.	has_symptom
+6a6633701d91124fc988e65a73669b217dc731cd	@DISEASE$ is the most frequent form of @PHENOTYPICFEATURE$, characterized by rhizomelic shortening of the limbs.	has_symptom
+605d7dba98f77cb942aea3de2bcac5a9c739fafe	We found nine cases of severe congenital anomalies: complex heart defect, total congenital aganglionic megacolon, anal imperforation, @DISEASE$, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and @PHENOTYPICFEATURE$.	has_symptom
+87c8db623ac529667d9c5fb0a095924bab560284	We found nine cases of severe @DISEASE$: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and cleft palate.	false
+f4d232c71ee907e180e377e979e5b6d7f5c986bb	We found nine cases of severe congenital anomalies: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, gangliosidosis, Niemann-Pick @DISEASE$, Down syndrome, true hermaphroditism and cleft palate.	false
+e9ee767bdaea2635a794e5e5cebeda1c230a94c7	We found nine cases of severe congenital anomalies: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, @DISEASE$, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and cleft palate.	false
+7a6b47283a14c7bc3ada4b761a515ee18847590e	We found nine cases of severe congenital anomalies: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, @DISEASE$, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and cleft palate.	false
+a8224861da355a440c5cbcc42027a54a432e73d9	We found nine cases of severe congenital anomalies: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, gangliosidosis, Niemann-Pick syndrome, @DISEASE$, true hermaphroditism and cleft palate.	false
+6d8e406f5de9dee9d7f8e349ca7dbdaf94d08ff9	We found nine cases of severe congenital anomalies: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and @DISEASE$.	false
+6fbf35bec2185f4fc7ebab972c0f2671c0e6da15	A boy was born with @DISEASE$ associated with a giant occipital meningocele, cleft lip, and @PHENOTYPICFEATURE$.	has_symptom
+eec46fa9d27131056f6c1d1476b8a98d9b0b845d	Patients with @DISEASE$ (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and @PHENOTYPICFEATURE$ and variably associated with dysmorphism, as well as retinal and renal involvement.	has_symptom
+5d702d77325a0b76027a3a684e86361b2f544d4c	Patients with Joubert syndrome 2 (JBTS2) suffer from a @DISEASE$ manifested by psychomotor retardation, hypotonia, @PHENOTYPICFEATURE$, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement.	false
+c2206ff155fcf43c827b82e3d10b48756213a109	Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, @PHENOTYPICFEATURE$, nystagmus, and @DISEASE$ and variably associated with dysmorphism, as well as retinal and renal involvement.	false
+bf4442103aab00665a95764895ba75961861ff51	Patients with @DISEASE$ (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, @PHENOTYPICFEATURE$, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement.	false
+176a4180925644072479398eb9156534da2a8996	This study reports some of the most important clinical features of the @DISEASE$ (hypoplastic zygomatic arch, prominent nose with square nasal root, bilateral @PHENOTYPICFEATURE$, downslanting palpebral fissures, and learning disabilities) in a Brazilian boy presenting face and pinna asymmetries.	has_symptom
+ac0ada44b5ca17559b2bd6df229dc1c26d6ac6cc	@DISEASE$ rarely involves myocardial muscle fibers, but has shown to be associated with @PHENOTYPICFEATURE$.	has_symptom
+fce0b1d6d1ba8202138b28faf34229f905b5aa80	@DISEASE$ is a glycophosphatidylinositol (GPI) deficiency characterized by @PHENOTYPICFEATURE$, distinctive facial features, intractable seizures, and hyperphosphatasia.	has_symptom
+49bb5b6f2e517d25af008977372d51ce6744e74c	Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by @DISEASE$, distinctive facial features, intractable @PHENOTYPICFEATURE$, and hyperphosphatasia.	false
+62d4f076b71340fa0311b0904173c30879881aa0	@DISEASE$ is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable @PHENOTYPICFEATURE$, and hyperphosphatasia.	false
+66f71b23f8636dceb2190aaae7d2451f5cd85041	Hyperphosphatasia is observed in some patients with IGDs, such as hyperphosphatasia @PHENOTYPICFEATURE$ syndrome or @DISEASE$, caused by mutations in genes in the later stage of GPI biosynthesis.	has_symptom
+435ccaaa17f06ba85dd149fe7a8da0b20ca97a41	Hyperphosphatasia @PHENOTYPICFEATURE$ (@DISEASE$) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase.	has_symptom
+602dfea085c9651f1e7b9cb09ad2513550b022b9	Hyperphosphatasia mental retardation (@DISEASE$) syndrome is an autosomal recessive form of @PHENOTYPICFEATURE$ with distinct facial features and elevated serum alkaline phosphatase.	has_symptom
+31acc8a64b2edd9550108b73ccf006141ec25b2b	@DISEASE$, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	has_symptom
+d3b849893c51900cc4777038c257d19a4615272c	@DISEASE$, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	has_symptom
+c4a8d2bce50cfccd50cbf7c2645612b7fb26ded6	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an @DISEASE$ characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	false
+0110fb60bb5807381d2eaaca77257ece3b6b1ae7	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+35aaaeb2abed9ca76eab2a1e7fc78d042e278919	Mabry syndrome, hyperphosphatasia @DISEASE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	false
+78aaa8f0be439aeb711abb9b30b72a205cd708a5	@DISEASE$, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	false
+ad43d78ce9315c12f7ed6fea95336cf3538563f4	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	false
+c58020ed13c5ac6969140d714887601577f73bd3	Mabry syndrome, hyperphosphatasia mental retardation @DISEASE$ (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	false
+7e3fefa176598cf72e9956bd81c65c8f20274857	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, @PHENOTYPICFEATURE$, cardiac abnormalities, and developmental delay.	has_symptom
+c5a090494d61ad4d1e99825dbd350f522f66ad12	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @PHENOTYPICFEATURE$, intellectual disability, cardiac abnormalities, and developmental delay.	false
+da548aba1050e1e1eac45f9be8f77db80838c4bf	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, @PHENOTYPICFEATURE$, and developmental delay.	false
+aae003d81393662f4ac97848b156992b0c7f3991	Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay.	false
+67b57701e68e5343a4bf92345b2b5955d0104c72	Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @PHENOTYPICFEATURE$, @DISEASE$, cardiac abnormalities, and developmental delay.	false
+1ec29bf08807ce152050234379c2d947a70b2805	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	has_symptom
+fb8ab99912e541b7ca04b262e177b52f9b02b5c8	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an @DISEASE$ with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+702a0df6d075236bfcc1ea27e3da431597393ba2	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+322f0b3ba228c214f7dec2803cb1abb4c1fb6bf2	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+8e3743d3642309e50e698eebfef8a9d7200d91f4	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an @DISEASE$ with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+a499a7d801b6aa8f0e47b3d1950f86e13fc55435	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @DISEASE$, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+bb0945e2bcb7e8a6cf638805c7537db0f2775aeb	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @DISEASE$, seizures, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+f3539f025ab7728744dc72de5d19113eb45fc833	Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-@PHENOTYPICFEATURE$ syndrome (HPMRS), also known as @DISEASE$, a rare autosomal recessive form of intellectual disability.	has_symptom
+ebdf70e13656d37e56590e6023cabd57a946c4f6	Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-mental retardation syndrome (HPMRS), also known as @DISEASE$, a rare autosomal recessive form of @PHENOTYPICFEATURE$.	has_symptom
+461f7ecc06369c23d50d074c056f36dc9720e0f9	Hyperphosphatasia @PHENOTYPICFEATURE$ syndrome, also known as @DISEASE$, is a type of IGDs.	has_symptom
+df5660c917e0290e56c7ef2373fbcb2e0e742917	@DISEASE$ (HPMRS), an autosomal-recessive form of @PHENOTYPICFEATURE$ characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	has_symptom
+8164a890035ccf657d7db7edc0e2833f883e9154	@DISEASE$ (HPMRS), an autosomal-recessive form of intellectual disability characterized by @PHENOTYPICFEATURE$, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+3aed982142970e21d0e434111818aa4c8546d8dc	Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of @DISEASE$ characterized by @PHENOTYPICFEATURE$, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+c9d3968c7c87f9d32481a8c33d339af88a05d2db	Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of @DISEASE$ characterized by facial dysmorphism, @PHENOTYPICFEATURE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+b3bf9bf61a81d4253898385704d9ac255303d49a	@DISEASE$ (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, @PHENOTYPICFEATURE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+bb7cada9282eeb55f472ffa8e29eafc098c29894	Hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is an autosomal recessive disorder.	has_symptom
+081d9a097b390414a0de3e99f0098d1a8cd02d16	An unusual vascular lesion was seen in a 14-year-old white boy with renal vascular @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+60c42183b99f6d144c97649b47b1e9419c8c8cc1	Systemic @DISEASE$ with caf?-au-lait spots, blood @PHENOTYPICFEATURE$ and tenderness on the right hypochondrium were found.	has_symptom
+217716d07327bcb887cdea4feed2d81f35596bce	An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: @DISEASE$ (BDLS) is characterized by typical facial features, intrauterine growth retardation, @PHENOTYPICFEATURE$, microbrachycephaly, hirsutism and limb anomalies.	has_symptom
+12fddbc82c976b5ae44ef948a97c6cf160f46f1e	An analysis of seven infants with @DISEASE$, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, @PHENOTYPICFEATURE$, microbrachycephaly, hirsutism and limb anomalies.	has_symptom
+d6c03f80954064e3fd7240364f9bcd4220b87c47	An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: @DISEASE$ (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachycephaly, hirsutism and @PHENOTYPICFEATURE$.	false
+1f1a7084f67795012175883732c615c37875d92d	An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, @DISEASE$, short stature, microbrachycephaly, hirsutism and @PHENOTYPICFEATURE$.	false
+557e67de486eca0b23d919ebae370a42abbbc622	An analysis of seven infants with @DISEASE$, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachycephaly, hirsutism and @PHENOTYPICFEATURE$.	false
+f2fe0eeb22a59200931aba7a7ebf06e41b557d7a	An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, @DISEASE$, microbrachycephaly, hirsutism and @PHENOTYPICFEATURE$.	false
+a20e72321b486b8202f1e49bf1e181a68724d233	@DISEASE$ (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, @PHENOTYPICFEATURE$, limb abnormalities, and a distinctive craniofacial appearance.	has_symptom
+4de7da4ae7accf470b86a6f27c254017ab989696	@DISEASE$ (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, @PHENOTYPICFEATURE$, and a distinctive craniofacial appearance.	false
+75d97459c5391140657c526fbe6b9e774455d3ee	Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare @DISEASE$ characterized by mental retardation, short stature, @PHENOTYPICFEATURE$, and a distinctive craniofacial appearance.	false
+e588b3fc37a2fee784470ac878a6d49e16d8dc94	Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and a distinctive craniofacial appearance.	false
+70efdfb8e56dcf195e4eac61d07c34bf515baacd	Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, limb abnormalities, and a distinctive craniofacial appearance.	false
+5e42ddcede520cc0cb9853bf6d1676c4c650c5e1	@DISEASE$ (BDLS, OMIM 122470) is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, short stature, limb abnormalities, and a distinctive craniofacial appearance.	false
+56535bae1e2431008598316fc8cf65d5c54e9d29	Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, short stature, limb abnormalities, and a distinctive craniofacial appearance.	false
+25c1fc9d57e860d157c59099fdf263b5fd6875c8	We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed @DISEASE$ phenotype, with global developmental delay, suction-swallowing abnormalities, @PHENOTYPICFEATURE$ and abnormal genitalia associated.	has_symptom
+70103ed03cc0e2e55ed0d117b10e0dde16faec31	@DISEASE$ is a congenital anomaly syndrome characterized by distinctive facial dysmorphism, primordial @PHENOTYPICFEATURE$, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly.	has_symptom
+17677c6365101703043d67c1bb3625cce08f17ec	Cornelia de-Lange syndrome is a congenital anomaly @DISEASE$ characterized by distinctive @PHENOTYPICFEATURE$, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly.	false
+3d985eea737b1333156cf7569dae26e6761dcc94	Cornelia de-Lange syndrome is a congenital anomaly syndrome characterized by distinctive @PHENOTYPICFEATURE$, primordial @DISEASE$, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly.	false
+b11fcb37e9e8ffe95e4a9feaf5ffdd03f504456f	Cornelia de-Lange syndrome is a @DISEASE$ syndrome characterized by distinctive @PHENOTYPICFEATURE$, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly.	false
+523b49dd39476c9f93ecbb81b4061815f626c910	@DISEASE$ is a congenital anomaly syndrome characterized by distinctive @PHENOTYPICFEATURE$, primordial short stature, hirsutism, and upper limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly.	false
+a5f640cb7e3b1774e4ac9118005f973509a3f6c5	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	has_symptom
+d8cfe8463614b433cbc6da4a3cf36b418e3b230a	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for @DISEASE$ and skeletal dysplasia).	false
+f33d66cf1e1a334494e9ec977a7dcec4794ee2b1	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for @DISEASE$ and skeletal dysplasia).	false
+f24b74d7ef2011af2dfacc70d396a82273e55106	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+d05984e18043bc26b9ed2d8c41ae41212b6f80e6	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+cd8f81efaa1d5c26ea562666f193dfa2aa5b9395	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @DISEASE$ and @PHENOTYPICFEATURE$).	false
+b423eff3f0493575c07738372387948739a099ec	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+50606e3e2ab2a5f47d0a2e9c08fe2106185086e9	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+af827c881f6a023e8b53e8466eb91efb6e49c982	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+8b7cb56bf548b54d372bfdfb01dab137055a8c57	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+7ee5252182457e7ce4d8d35060db1220f9b9830d	@DISEASE$ is a congenital disorder of uncertain cause characterized by severe mental retardation, @PHENOTYPICFEATURE$, microbrachycephaly, hirsutism, limb deformities, and characteristic facies.	has_symptom
+4cc17d3a9ddbf730330c981e9bcf37433f15672d	Brachmann-de Lange syndrome is a congenital disorder of uncertain cause characterized by @PHENOTYPICFEATURE$, @DISEASE$, microbrachycephaly, hirsutism, limb deformities, and characteristic facies.	false
+cbf4563b94986359a2a7132a7138aec11568e5bb	@DISEASE$ is a congenital disorder of uncertain cause characterized by @PHENOTYPICFEATURE$, small stature, microbrachycephaly, hirsutism, limb deformities, and characteristic facies.	false
+a8b49d66ceea5f2764a8bdf59e452edcaf2fd7cb	Oligomeganephronia is a form of @DISEASE$ that leads to @PHENOTYPICFEATURE$ in childhood or adolescence.	has_symptom
+ec694fe50db9a814831a573b8cc5817c852b28b4	In young horses with @PHENOTYPICFEATURE$, bilateral @DISEASE$ should be considered in the differential diagnosis, and may represent a congenital lesion.	has_symptom
+780ba379363809d175320119f5e31dbbb0babc50	With the early onset of @PHENOTYPICFEATURE$ and slow deterioration of renal function in patients with @DISEASE$/dysplasia, the provision of good conservative treatment for renal failure is most important in the management of these patients.	has_symptom
+fdaa1d728c9bfcc29254a165177c20aa6adbaeef	With the early onset of renal failure and slow deterioration of renal function in patients with @DISEASE$/dysplasia, the provision of good conservative treatment for @PHENOTYPICFEATURE$ is most important in the management of these patients.	has_symptom
+4336be158549e27ed0553f4704178d77c86b792d	Bcl-2-deficient (bcl-2 -/-) mice are born with @DISEASE$ and succumb to @PHENOTYPICFEATURE$ secondary to renal multicystic disease.	has_symptom
+f8525b0088ab5df9b7ed3eab97aa941fbb195951	@DISEASE$, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric @PHENOTYPICFEATURE$ and adult-onset disease.	has_symptom
+655a0f98a784fda666211b36b09dff784fc44d0a	Mice deficient in bcl-2 are born with @DISEASE$ and succumb to @PHENOTYPICFEATURE$ as a result of renal multicystic disease.	has_symptom
+28aab67cf70656e3683e40c902a31704bbb54fcb	Typical findings in these patients include @DISEASE$, @PHENOTYPICFEATURE$, vesicoureteric reflux, and optic disc coloboma.	has_symptom
+dc7f890013ac73bf35407bc8d3ee71f1cb91e302	In addition to the typical features, our case also shows @DISEASE$ with early @PHENOTYPICFEATURE$ and some genital anomalies.	has_symptom
+cbda5931e5375881946db3dbab746f4fdd2af4bc	In addition to the typical features, our case also shows @DISEASE$ with early renal insufficiency and some @PHENOTYPICFEATURE$.	false
+7d548897c4f0c2fa0473cd3812aa60583409de13	In addition to the typical features, our case also shows renal hypoplasia with early @DISEASE$ and some @PHENOTYPICFEATURE$.	false
+64f5319d6eb59cebdc9b1620fe9457a1c5344ea9	@DISEASE$ is a common cause of pediatric @PHENOTYPICFEATURE$ and several adult-onset diseases.	has_symptom
+c7af36e2a9ea6ca6581ba007f4c83b507e8fb075	In humans, PAX2 haploinsufficiency causes renal-coloboma syndrome (RCS) involving eye abnormalities, @DISEASE$, and @PHENOTYPICFEATURE$ in early life.	has_symptom
+bc60c2ebd729e645910517de2844d787c0ac3231	Our study suggests that craniofacial and @PHENOTYPICFEATURE$ are common in @DISEASE$ patients and comprehensive dental care should be provided from early infancy.	has_symptom
+211969ef4ce0d9d10558af15c818fe539b63b6eb	Histidinemia was found in 3 of 4 siblings in one family, while a fatal encephalopathy with @PHENOTYPICFEATURE$ was present in two of them and in the fourth child who did not have @DISEASE$.	has_symptom
+7d0768e06c903890b4c84eb43e678a0455edcabb	@DISEASE$ was found in 3 of 4 siblings in one family, while a fatal encephalopathy with @PHENOTYPICFEATURE$ was present in two of them and in the fourth child who did not have histidinemia.	has_symptom
+612e9033a9793554491101f0a86fb4509a67f843	The @DISEASE$ appears to be unrelated to the @PHENOTYPICFEATURE$ or the encephalopathy in this family.	has_symptom
+0f7bdab408b84041c1f193534cbfd4cf1fefdb2d	The @DISEASE$ (HCS) is a rare autosomal dominant disorder characterized by severe osteoporosis, acroosteolysis of the distal phalanges, @PHENOTYPICFEATURE$, and other abnormalities.	has_symptom
+d1eb6a015b28598ea513a8150a55ec54ee700b4f	Mutations in NOTCH2 have also recently been connected to @DISEASE$, a dominant disorder causing focal bone destruction, osteoporosis, craniofacial morphology and @PHENOTYPICFEATURE$.	has_symptom
+18df5b7d265be4b0b65de43971a5be20e02b2ace	Following an introductory illustration of the clinical characteristics of the 18q syndrome (@DISEASE$), the paper describes the treatment carried out in a young patient with harelip and @PHENOTYPICFEATURE$ in addition to chromosomopathy.	has_symptom
+bdc53da7bb75b78e4909b784ae252655bca3fb1d	Complex analysis of clinical and genetic data indicated that LGMD2B, @DISEASE$, and the revealed polymorphic syndrome may represent allelic variants of 2p13-linked autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+b163251809f32aabf79704e21786761eba80258a	Mutations in the human dysferlin gene ( DYSF) cause autosomal recessive @PHENOTYPICFEATURE$ characterized by degeneration and weakness of proximal and/or distal muscles: limb girdle muscular dystrophy type 2B (LGMD2B) and @DISEASE$ (MM).	has_symptom
+6c32d9849c6386ca132c1c6ee6f4ff1da142968a	Limb girdle muscular dystrophy type 2L (LGMD2L) and @DISEASE$ type 3 (MMD3) are autosomal recessive @PHENOTYPICFEATURE$ caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family.	has_symptom
+2acd734f832ba4fbdea498d516c8121d751fc675	Linkage of @DISEASE$ (distal autosomal recessive @PHENOTYPICFEATURE$) locus to chromosome 2p12-14.	has_symptom
+413266d9cf27777d27e116c5d8eb6a045e4ec852	We described recently a large inbred family with autosomal recessive @PHENOTYPICFEATURE$ in which the LGMD and the DM phenotypes were manifested in separate affected members, and we assigned the gene for this condition to the same locus as in LGMD2B and @DISEASE$.	has_symptom
+df7350da296b62d299a8c0b9fadc7dbb216e4052	@DISEASE$, an autosomal recessive @PHENOTYPICFEATURE$ involving distal muscles, is caused by dysferlin mutations.	has_symptom
+94dc0f25bf307b17ff6147c46b609a29c352af17	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+17313d9de97d876a4dfe7fa65eeacfcbab58cc22	Seven patients presented with proximal myopathy consistent with limb girdle-type muscular dystrophy (LGMD), whereas two patients manifested predominantly distal wasting and weakness consistent with @DISEASE$ (distal autosomal recessive @PHENOTYPICFEATURE$) (MM).	has_symptom
+4f3c99d28dd910db3c2ccc69cb84b5948358e2b9	Remarkably, two clinically distinct forms of autosomal recessive @PHENOTYPICFEATURE$, LGMD type 2B (LGMD2B) and @DISEASE$, were recently mapped to the same locus.	has_symptom
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+332a77d43e03a473acdf9b81583c60f74f22c531	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @PHENOTYPICFEATURE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	has_symptom
+e1d807e2cdd5c43c086a3731c40da963e228aaba	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (@DISEASE$ hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+815621e6d31da8f2f0639e0b56342143afa5362a	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with @DISEASE$) syndrome.	false
+91b16a4277b1a936fe107a0666b8b911a2efeacc	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) @DISEASE$.	false
+4490bc475fd2ceeaa52dac285419974271b1711c	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+810c8e5eff3387adf4f8faa95464b73542de7f72	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and @DISEASE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+946248dfb8731508d2bd4925b057a60a5d7db206	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, @DISEASE$, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+30f1b36cf1ee4b53aadbeb5a406c996d7e3f1dce	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) @DISEASE$ (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+590729d90ed88325f257aa9efee8dd20981d1194	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, @DISEASE$, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+26cf1a9bfb80c4eb647d7419d974ca9b750f2384	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented @DISEASE$ with insulin-dependent diabetes mellitus) syndrome.	false
+3ce491385d2d3379ed2dc6e48e0af473f702f898	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented @DISEASE$ with insulin-dependent diabetes mellitus) syndrome.	false
+ca9ddfbda34ef078d4e25bd28ef00011753709bb	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and @DISEASE$; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+bd8387916dc362949850bded083e7411d420a2e5	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with @DISEASE$) syndrome.	false
+f4147068b06b9fad5b5b068d0f638e28a8af6531	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by @PHENOTYPICFEATURE$ and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) @DISEASE$.	false
+b4db245169b4abd48168c8db9c0343059df5f933	Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and @PHENOTYPICFEATURE$, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (@DISEASE$ hypertrichosis with insulin-dependent diabetes mellitus) syndrome.	false
+a496374af79d37bcf53176229ba294921932c668	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @PHENOTYPICFEATURE$, hyperglycaemia, low height, and hallux valgus.	has_symptom
+aaec525ace406ded8fab49bce458717aa89048eb	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+622654f7110aa25e51ba676ce28bf1e988a699e4	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+05438af4d6165055b0ce678294ac03c21602acc7	@DISEASE$ is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+b27973113a18d971d95dc44a8f07599938b1c027	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, @DISEASE$, hyperglycaemia, low height, and hallux valgus.	false
+6c396545dbbd8c08f60b65488ebbb6cb90ade2fd	H syndrome is a rare autosomal recessive @DISEASE$ characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+c45f92b18712510ba3afc0222dc95930946aa089	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, @DISEASE$, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+cf0215bf9c46762cdda838c6397f6095699198f2	H syndrome is a rare autosomal recessive @DISEASE$ characterised by constellation of clinical features and systemic manifestations including @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.	false
+ffdd831f9b52522dcaf376828b80715bdf488df0	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, hearing loss, heart anomalies, @DISEASE$, hyperglycaemia, low height, and hallux valgus.	false
+b32182538048ce53d1c23b5d1de010e4857893e1	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, @PHENOTYPICFEATURE$, renal anomalies, and mental retardation.	has_symptom
+543932bad13c91f6fd9d73fe57106a5dc74c14e0	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, @DISEASE$, renal anomalies, and @PHENOTYPICFEATURE$.	false
+ac34928ac4ace11c9be6f17ad0860d085529016b	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and @PHENOTYPICFEATURE$.	false
+1b136f9d3c50612df2dd95aa186473795e1f09e8	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, @PHENOTYPICFEATURE$, @DISEASE$, renal anomalies, and mental retardation.	false
+b85b742e336ec981b1d5a057af903fd324d7ebfe	@DISEASE$ is a recently described disorder with characteristic facies, @PHENOTYPICFEATURE$, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation.	false
+9ceaa6e7c0e239c0ea6aa1e25642431b388f0b05	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, @PHENOTYPICFEATURE$, microcephaly, renal anomalies, and mental retardation.	false
+87aa1c8524b66c8c83e17a3b96770317be5a0f2e	Genitopatellar syndrome is a recently described disorder with characteristic facies, @PHENOTYPICFEATURE$, absent patella, flexion contractures, @DISEASE$, renal anomalies, and mental retardation.	false
+3877dd250f7ffe7bbc1042d407c96bee11cfedbc	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, @PHENOTYPICFEATURE$, and mental retardation.	false
+5ed213a32e9575fac56557a6f0931c1f5dda7644	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+fb08ba6b7d6ffcc9cc1df0b5b8ce34965f9f1017	In an effort of explore new approaches with the possibility of improving on existing methods of managing problem cases with combined corneal disease and @DISEASE$ patients were treated by keratoplasty, cataract extraction, and intraocular lens implantation in various combinations or by @PHENOTYPICFEATURE$ extraction and lens implantation without keratoplasty over the past two years.	has_symptom
+5808344118098467097ed8cd353d7dc42edb716a	In an effort of explore new approaches with the possibility of improving on existing methods of managing problem cases with combined corneal disease and @DISEASE$ patients were treated by keratoplasty, @PHENOTYPICFEATURE$ extraction, and intraocular lens implantation in various combinations or by cataract extraction and lens implantation without keratoplasty over the past two years.	has_symptom
+a34efb095cab982a29a078b6f5e7fb1b8d64d198	A total of 75 patients with various types of @DISEASE$ of these (37 eyes) with complicated @PHENOTYPICFEATURE$, were examined.	has_symptom
+f1a10f9e76dd49605bfb9f89a4fa1234180fd761	Forty-seven patients with AMD and @DISEASE$ with @PHENOTYPICFEATURE$ only, and 49 with AMD were included.	has_symptom
+2ae0cf5d29c90f052559c0e57fa4716ae88d49ca	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	has_symptom
+a2d79ff22a82279fdf4fa4b0278761a3928271b8	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	has_symptom
+65ff1022b2dcaabd952dd375e777b85d33a35793	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a @DISEASE$ characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	false
+c9949346fc5b634dbb162c4b45a95336bfaf0cba	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	false
+a46d5b22c834c5c3726744373a2126df361a3cd4	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	false
+751f0c5f18d899d3e805b5b95263bf22de34a0e9	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+94e80b016dbbe5f74354c618ae26f46722c0a1c9	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and mental deficiency.	false
+c121ef5b1f55864e261202b6bd1696497016bee6	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	false
+a9532836ef47abbd8fdd3fbe38cb74afed2c083a	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	false
+dfec3e7f2c1c504b14536495092c7adb76ee8a38	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	false
+68005176d693d56b9267eb8c50898a71aa02e14a	@DISEASE$ is a genetic syndrome characterized by broad thumbs and big toes, @PHENOTYPICFEATURE$, mental deficiency and dysmorphic facies.	has_symptom
+3180f200c92a4d41459254426e24f51703367d1c	Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, @DISEASE$, @PHENOTYPICFEATURE$ and dysmorphic facies.	false
+8a67c053ad161e9a7232fd5721bb853e4ebd4604	Rubinstein-Taybi syndrome is a genetic @DISEASE$ characterized by broad thumbs and big toes, growth retardation, @PHENOTYPICFEATURE$ and dysmorphic facies.	false
+978b990f151ba72584ce1d5fc64d4c4d527f3f39	@DISEASE$ is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, @PHENOTYPICFEATURE$ and dysmorphic facies.	false
+dc4ba2937e0688ccc7b94247202559332133f7f4	@DISEASE$ (RTS) is a rare multiple congenital syndrome characterized by distinctive facial features, mental and @PHENOTYPICFEATURE$, broad thumbs and great toes.	has_symptom
+7e17374f7459d49a05af60753881d5e2f018cc16	@DISEASE$ (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and @PHENOTYPICFEATURE$.	has_symptom
+fc59851053ceaf23e2ee4e642c8020c9217f3608	Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, distinctive facial features, and @DISEASE$.	false
+77f9102cd399b837e28c654668684b8261163378	@DISEASE$ (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, distinctive facial features, and growth retardation.	false
+bf4801144c1e22ab94197e8217b362a0d612fa9f	@DISEASE$ is characterized by mental and @PHENOTYPICFEATURE$, wide and flat thumbs and first toes, and dysmorphic facial features.	has_symptom
+13184aaa11c2eb709b1cac495029183ce9b7968f	@DISEASE$ (RSTS) is a congenital disorder characterised by @PHENOTYPICFEATURE$, facial dysmorphisms, skeletal abnormalities and mental retardation.	has_symptom
+42fefb3d3de98903b746301e87ff569d84551340	@DISEASE$ (RSTS) is a congenital disorder characterised by growth retardation, facial dysmorphisms, @PHENOTYPICFEATURE$ and mental retardation.	false
+6ff84dc4c0841382ea6566fcc7e2b3ab1c6ebd01	Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by @DISEASE$, facial dysmorphisms, skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+ea2a7f235f1084894665a0363f6bc9052dada1be	@DISEASE$ (RSTS) is a congenital disorder characterised by growth retardation, facial dysmorphisms, skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+adcd27196216b1f781daaba60e32c90b6315e6c8	Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by growth retardation, @DISEASE$ dysmorphisms, skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+c8bd2f509c2c675788ad729b0a67de6950837a7c	Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by growth retardation, @DISEASE$ dysmorphisms, @PHENOTYPICFEATURE$ and mental retardation.	false
+23beea15a5e8dbf6d2653cac5a45a920e12225cb	Rubinstein-Taybi syndrome (RSTS) is a congenital disorder characterised by @DISEASE$, facial dysmorphisms, @PHENOTYPICFEATURE$ and mental retardation.	false
+e7b8cefce1c69d299086255d9c77b82e84103d72	@DISEASE$ (RTS; OMIM # 180849) is a well-known disorder characterized by mental and @PHENOTYPICFEATURE$, broad thumbs and great toes, and unusual facial characteristics.	has_symptom
+7da89f766ee40e373c3bca1baadae551f8da0290	@DISEASE$ (RSTS) is a complex autosomal-dominant disease characterized by mental and @PHENOTYPICFEATURE$ and skeletal abnormalities.	has_symptom
+f670321c4dd6ffe46b27dfc6843b63b4d0819dd7	Rubinstein-Taybi syndrome (RSTS) is a complex autosomal-dominant disease characterized by mental and @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3f074f15d8745675ebebe7b3c32457833fa5b08a	Rubinstein-Taybi syndrome (RSTS) is a complex @DISEASE$ characterized by mental and growth retardation and @PHENOTYPICFEATURE$.	false
+8d42cde8789aae8010bb975f5af570a05d2e8611	@DISEASE$ (RSTS) is a complex autosomal-dominant disease characterized by mental and growth retardation and @PHENOTYPICFEATURE$.	false
+9d46e0555263587185a153b22c034921afa70803	@DISEASE$ is characterised by mental @PHENOTYPICFEATURE$ retardation and a particular dysmorphology.	has_symptom
+64352ede564484223f3a16258c8f69a2db8bd052	@DISEASE$ (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, @PHENOTYPICFEATURE$, and intellectual disability.	has_symptom
+c0ef4bd9ea9b39c286cc7264bf92aa759f44c98b	@DISEASE$ (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and @PHENOTYPICFEATURE$.	false
+ac6e5fb099dd280c820df64bf4964e37f13e649b	Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a324cde14301662d4a75ff7b6d16d7490220dce1	Light and electron microscopy and indirect immunofluorescence techniques were used to study the nature of the mitten deformity in five adult patients with severe generalized @DISEASE$ undergoing release of hand and finger @PHENOTYPICFEATURE$.	has_symptom
+e2fc41a8c91c7ef53362526b6e7b4a294e763f4b	The authors treated an 11-year-old boy with @DISEASE$ who presented with hand @PHENOTYPICFEATURE$ and interdigital pseudosyndactyly.	has_symptom
+dd2be4f226c36f24b95b6eb6a20b38449f81b633	A genetic blistering skin disease, @DISEASE$ (RDEB), is marked by severe wound healing defects and finger @PHENOTYPICFEATURE$.	has_symptom
+bddb4a39167dbbfa63a0bf62674f108810790fe5	The authors report on their experience with the surgical treatment of syndactylia and flexor @PHENOTYPICFEATURE$ in @DISEASE$ in a 7 1/2-year-old boy.	has_symptom
+7f7cc75055db01908fce5642d238b64993c11451	Digital @PHENOTYPICFEATURE$ and pseudosyndactyly, common manifestations in @DISEASE$, cause significant functional impairment.	has_symptom
+37a81bb34c0c6fcb61dcdedfe2d62b33b520819d	Most frequent in this group are mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's @PHENOTYPICFEATURE$, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses and @DISEASE$.	has_symptom
+23f9a44fd35a4a5bcbae3fdebc7992a69c25a03d	In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's @PHENOTYPICFEATURE$, sideroblastic anemia, aceruloplasminemia and @DISEASE$ are clarifying the role for iron in the nervous system.	has_symptom
+c3b638ce735adeafd481f7ac0cb2c266172b5844	Non-synonymous single nucleotide variants (SNVs) in Mendelian disorder genes related to parkinsonism, dystonia, @PHENOTYPICFEATURE$, dementia or @DISEASE$ were compared between affected siblings.	has_symptom
+e08cce9b79f3de6ced9bfa263d5e98bcff5f555b	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited @PHENOTYPICFEATURE$, spastic paraparesis, chorea, paroxysmal movement disorders, @DISEASE$, and primary familial brain calcifications.	has_symptom
+a449a089e9c56da2eb532f2350dcf2a6f2737e23	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal @PHENOTYPICFEATURE$, @DISEASE$, and primary familial brain calcifications.	false
+9773aba507b5733524dda4e8e4076c9254cd85e5	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, @DISEASE$, and primary familial @PHENOTYPICFEATURE$.	false
+37b0892dab68b5ff9a6d9f4b169ccba010cca7bf	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited @DISEASE$, spastic paraparesis, chorea, paroxysmal @PHENOTYPICFEATURE$, neurodegeneration with brain iron accumulation, and primary familial brain calcifications.	false
+b3079e8001d637b1f2db0616a68450887388674c	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, @DISEASE$, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal @PHENOTYPICFEATURE$, neurodegeneration with brain iron accumulation, and primary familial brain calcifications.	false
+953c60ae586e3d5c1ac31d829a80c83f24e17ae4	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, @DISEASE$, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial @PHENOTYPICFEATURE$.	false
+064ee2fd41b5d5204782355d401c4beec3c337e9	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited @DISEASE$, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial @PHENOTYPICFEATURE$.	false
+4f74361bca48a50c2e9519970d71facff8e31179	A case of @DISEASE$ associated with hyperglobulinemia, @PHENOTYPICFEATURE$, and a positive Coombs test.	has_symptom
+f026da6a2b040880d72168d26ccbe2097b3a7cf2	A case of mu heavy-chain disease associated with @PHENOTYPICFEATURE$, @DISEASE$, and a positive Coombs test.	false
+52999d0e9f11510aa6667075a603c3fe55825227	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$, anemia, and a positive Coombs test.	false
+e42ec6fece8f2cf2f502edb6fbc18f12df723071	She was noted to have craniofacial abnormalities suggestive of @DISEASE$, @PHENOTYPICFEATURE$ and polydactyly.	has_symptom
+bcc5a0f9cf5188d7b6dc26a1b5da5cd793c1d34c	She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3bd9ead21a00792a147ccedd31ce7ff96b9f41d0	She was noted to have craniofacial abnormalities suggestive of @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$.	false
+a13dd977aad9741aed1f10736b37c4074990938f	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, @PHENOTYPICFEATURE$, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	has_symptom
+608609a71919ed483b41efe1fc0f577f271d17b8	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: @PHENOTYPICFEATURE$, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched @DISEASE$, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+eedfdad96929f2ae10d3ffad51ca11074b26cba4	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: short stature, hypertelorism, bilateral @PHENOTYPICFEATURE$, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+b648976ab4471adaa58b0c74844e767682a42c16	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, @PHENOTYPICFEATURE$, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched @DISEASE$, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+791917c7965f7907b3186f61bf282104d14aeb0e	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral @PHENOTYPICFEATURE$, ptosis, low-set ears with prominent auricles, high-arched @DISEASE$, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+b36acf0a68a9c338d11738bf46701fa815a827ef	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: @PHENOTYPICFEATURE$, hypertelorism, bilateral epicanthal folds, @DISEASE$, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+e6704702f647f573abde50b2537374159df65381	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: @PHENOTYPICFEATURE$, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+123dec9ff052269b6875edba8c831436197c9ec2	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, @PHENOTYPICFEATURE$, bilateral epicanthal folds, @DISEASE$, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+4a45281bb595d34a21c55d8d5938974a6acc77b2	A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral @PHENOTYPICFEATURE$, @DISEASE$, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+bb7ae4f764e718d86568fb1d04c67b54d06ee0d5	A newborn with ambiguous external genitalia and the stigmata of @DISEASE$ presented with the following features: short stature, @PHENOTYPICFEATURE$, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias.	false
+cd1e0dae460ebb6fecd3b51b6f921f5ffc11a822	Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-@DISEASE$ including short stature, @PHENOTYPICFEATURE$, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries.	has_symptom
+75e70088baadc0a9786de72795e68b49cbbdfd86	Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, @DISEASE$, webbed neck, nevi, cubitus valgus, @PHENOTYPICFEATURE$, malformed great vessels, and abnormal ovaries.	false
+f5bc61c352db3ce96d53130913845e26e4dd734d	Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-@DISEASE$ including short stature, ptosis, webbed neck, nevi, cubitus valgus, @PHENOTYPICFEATURE$, malformed great vessels, and abnormal ovaries.	false
+682999da6282096a6ce4a3cb6f12e73d018fe130	Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including @PHENOTYPICFEATURE$, @DISEASE$, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries.	false
+5bf7ce570a329a7885d88828ef1905f3241e7638	Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-@DISEASE$ including @PHENOTYPICFEATURE$, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries.	false
+c9d4f2495e1fe7e78b360e317d1322095703a15d	Reports describing abnormal eye features in individuals with @DISEASE$ generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and @PHENOTYPICFEATURE$.	has_symptom
+8b2ebcf740e3ec70334167a7add09c29edb6528f	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9a076d8a405e36b0611953299e09989f859332b0	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and @DISEASE$.	false
+c75df393a309c494bcc8e0920dadfc872a26fed0	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (@DISEASE$ or hyperopia), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+55c1bad29e5d0dfbc776484a8840e42edd1dce6f	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior @DISEASE$ abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+ecfa47f349acfc4b6661048968b3abcd9ea688e7	Reports describing abnormal eye features in individuals with @DISEASE$ generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+68b1116898a898222cd146b50cb6270f12fd5eaf	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or @DISEASE$), strabismus, and external or anterior segment abnormalities including hypertelorism, @PHENOTYPICFEATURE$, and ptosis.	false
+516405b464b9b992f5d5601d584f05c2daba252b	Reports describing abnormal eye features in individuals with @DISEASE$ generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, @PHENOTYPICFEATURE$, and ptosis.	false
+2e5ea8c1ad8d4e42d2d005ddd9cf9620c040a6af	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior @DISEASE$ abnormalities including hypertelorism, @PHENOTYPICFEATURE$, and ptosis.	false
+afc12ed0d3f72050da104614a41e479779fc155a	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or @DISEASE$), strabismus, and external or anterior segment abnormalities including @PHENOTYPICFEATURE$, epicanthal folds, and ptosis.	false
+413b3ab508d26f8ef63119b114f72625487a4967	Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (@DISEASE$ or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, @PHENOTYPICFEATURE$, and ptosis.	false
+3d88e8882cdc9b85d700b7ded1c71f222992afe5	In contrast, other known causes of POF, such as blepharophimosis @PHENOTYPICFEATURE$ epicanthus and inversus and autosomal recessive @DISEASE$, had no altered sex ratio.	has_symptom
+8cffaaa3f98c7f9bee4db466fe1478060273f73a	In contrast, other known causes of POF, such as blepharophimosis @DISEASE$ @PHENOTYPICFEATURE$ and inversus and autosomal recessive gonadal dysgenesis, had no altered sex ratio.	false
+4acff15ca4c6817f347df6b164411d597e16f016	In contrast, other known causes of POF, such as blepharophimosis ptosis @PHENOTYPICFEATURE$ and inversus and autosomal recessive @DISEASE$, had no altered sex ratio.	false
+40dbcfbcf644293b051359e72c09f6590baef441	We report five new patients with @DISEASE$ and a co-occurring genetic disorder including one patient with Li-Fraumeni syndrome, Li-Fraumeni and Noonan syndrome, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis-@PHENOTYPICFEATURE$-epicanthanus inversus syndrome.	has_symptom
+ebc7d403a4b06345325091f7fd02c2cda28e46bb	@DISEASE$ without @PHENOTYPICFEATURE$ (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest.	has_symptom
+1a9cb9c48fd181cc7711c4e177b9b7007f3715ee	@DISEASE$ without @PHENOTYPICFEATURE$ (Smith-McCort dysplasia).	has_symptom
+17173dca04aa08212b80c225c0d0376f59be1794	The clinical and radiographic features of three adult siblings with @PHENOTYPICFEATURE$ and dwarfism due to the @DISEASE$ are documented.	has_symptom
+780a7d26f5a2dbcfe09ce4a580b8e8f2253bc417	An  18-year-old @PHENOTYPICFEATURE$ girl with short-trunked dwarfism is described as a case of the @DISEASE$.	has_symptom
+4fa66bada472cf34a61484af316191146f988a02	Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of @DISEASE$ (DMC) except for @PHENOTYPICFEATURE$.	has_symptom
+894f6cb53489bbda1797f82913e829cf24efe2af	@DISEASE$ without mental retardation (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for @PHENOTYPICFEATURE$.	has_symptom
+9c11ff35272a1d8f738369b3e698b3f045e9324b	Dyggve-Melchior-Clausen syndrome without @PHENOTYPICFEATURE$ (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of @DISEASE$ (DMC) except for mental retardation.	has_symptom
+d7be3e2afd89cb6a7923f46a7a44d76afb4f10f7	@DISEASE$ without @PHENOTYPICFEATURE$ (Smith-McCort dysplasia) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for mental retardation.	has_symptom
+d39a0d06def9cf4dcf3bf9aec6f2d9d6cc86fb63	@DISEASE$ (DMC) is a severe autosomal recessive skeletal dysplasia associated with @PHENOTYPICFEATURE$.	has_symptom
+1fe5eccb0484544372fe187b8609081c7b32d2c0	@DISEASE$ (DMC) is a severe autosomal recessive @PHENOTYPICFEATURE$ associated with mental retardation.	false
+efe0f9090a050c2fab6c1f611bef2c5b38f965c8	Dyggve Melchior Clausen syndrome (DMC) is a severe autosomal recessive @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+fc40c19b5af8d4c6366e22f237303d512a656d62	The @DISEASE$ (DMCS) is a rare autosomal recessive skeletal dysplasia characterized by short-trunk dwarfism and @PHENOTYPICFEATURE$.	has_symptom
+77266b52f137dc7f81d49b7bfd56ae210a758dec	The Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short-trunk dwarfism and @DISEASE$.	false
+92960f81af67134b7c69ed908f0bc44105450ace	The @DISEASE$ (DMCS) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short-trunk dwarfism and mental retardation.	false
+0ee3ed589c553264bdf79e3e0f6778c5a27de338	@DISEASE$ without @PHENOTYPICFEATURE$ has clinical and radiographic findings similar to those of Smith-McCort dysplasia.	has_symptom
+ae826f62510cb782c008d98e211d2961e323300c	We report a case of @DISEASE$, a skeletal dysplasia with short trunk dwarfism and @PHENOTYPICFEATURE$.	has_symptom
+efa00f3d3b518bfd2f7135a83fff1689a3c1e651	We report a case of Dyggve-Melchior-Clausen syndrome, a @PHENOTYPICFEATURE$ with short trunk dwarfism and @DISEASE$.	false
+6537bd36dad2a123b469bc9be693cfa310ea2e80	We report a case of @DISEASE$, a skeletal dysplasia with @PHENOTYPICFEATURE$ and mental retardation.	false
+3627daff5c53ff81bf06cba2b56a55eb68eaf352	We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+98796ae3bd83340786570f45ef3b153f6676cfba	We report a case of @DISEASE$, a @PHENOTYPICFEATURE$ with short trunk dwarfism and mental retardation.	false
+b121bd6348ed60766d03a1b131b1b419c5272c6e	@DISEASE$ is a rare autosomal recessive disorder, characterized by progressive spondylo epi metaphyseal dysplasia associated with @PHENOTYPICFEATURE$.	has_symptom
+b7c6d9ee16ce589afc000c43141bf4f999fa3486	Wiedemann-Steiner syndrome (@DISEASE$) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (@PHENOTYPICFEATURE$, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay.	has_symptom
+9101b4a6428a08b7587a65c2824468ec642e9bd7	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	has_symptom
+d4da08f3a0dca979ec97237e9204623d4e0b77b6	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	has_symptom
+dc7d49872b9222532b639a33decb11e600a2cf18	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive @DISEASE$ characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+536d1ab3390721c6905c53362a25d59c1f1a445a	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+4e2fb559c66688c63c6fe68914b4802abc937094	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of @DISEASE$.	false
+7fcb134f9ea165bdb1bf4493b7f8af22467fba75	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @DISEASE$, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+c13bb97b2de87f8147c5e74e33b3aae78fa2505c	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive @DISEASE$ characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	false
+200cd9aebf0cac63451e658a6bc93253dd7be098	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+42a62342e9ea89550738d3f8284d1209467242eb	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	false
+5d5406baaa77c39f70a0e7189f1a96480cfab361	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	false
+ba87386414814f9d5baef72a1ed11a3c6c253821	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of @DISEASE$.	false
+4d5f0e5b1434e35f3b2b679424305443c02bb42c	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and @DISEASE$, cataract and an increased risk of cancer.	false
+05c1109ae46d045ae2e68e33b282b3c55a8493c1	@DISEASE$ is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and @PHENOTYPICFEATURE$ and cancer predisposition.	has_symptom
+cda8dacd12ac762254e4086c91077c3aa3a49fe9	Rothmund-Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, @PHENOTYPICFEATURE$, skeletal and dental abnormalities and @DISEASE$ predisposition.	false
+1337e8df881aae4d1d09a74d7b249499a0c9d390	@DISEASE$ is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, @PHENOTYPICFEATURE$, skeletal and dental abnormalities and cancer predisposition.	false
+feacc97bde4f9bce447b599460e541eff3815f5f	Rothmund-Thomson syndrome is a rare genodermatosis caused by biallelic mutations of the RECQL4 gene and is characterised by poikiloderma, sparse hair, eyelashes and/or eyebrows, @PHENOTYPICFEATURE$, skeletal and @DISEASE$ and cancer predisposition.	false
+17199ce11de372fcbab3b24c434d1dd6af5826a4	Patients with @DISEASE$ often present early in life with skeletal and @PHENOTYPICFEATURE$, short stature, juvenile cataracts, and a characteristic poikilodermal rash.	has_symptom
+08fd2c18b85d1efbfb372b6a27167cb51428e77f	Patients with @DISEASE$ often present early in life with skeletal and dental abnormalities, @PHENOTYPICFEATURE$, juvenile cataracts, and a characteristic poikilodermal rash.	false
+fc7daf75def3f2ed8a0060c7e90c78f3873bc756	Patients with RTS often present early in life with skeletal and dental abnormalities, @PHENOTYPICFEATURE$, juvenile @DISEASE$, and a characteristic poikilodermal rash.	false
+37aff8eeb7503e5e36bf681bc5dcdcf42ef12f58	Patients with RTS often present early in life with skeletal and @DISEASE$, @PHENOTYPICFEATURE$, juvenile cataracts, and a characteristic poikilodermal rash.	false
+288dfe3b155236353fd11d0ba0a426b95a82bab2	@DISEASE$ is an autosomal recessive condition that associates sensorineural hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+aa013f8206b98142af14b980ddcaa075e7012c3e	@DISEASE$ is an autosomal recessive condition that associates @PHENOTYPICFEATURE$ and cerebellar ataxia.	false
+1722c651a6f55b9e31de5d6d42c7b14e57d7b3aa	Lichtenstein-Knorr syndrome is an autosomal recessive condition that associates @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b261579c30f5dbac2d991a490f7c74f00ecb1618	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused @DISEASE$ characterized by @PHENOTYPICFEATURE$ and sensorineural hearing loss, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo mutation, c.796A>C (p.Asn266His) which associated multiple anomalies.	has_symptom
+1358b2be0764362f40062ce68f4a61caad1f2c6d	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused Lichtenstein-Knorr syndrome characterized by @DISEASE$ and sensorineural hearing loss, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo @PHENOTYPICFEATURE$, c.796A>C (p.Asn266His) which associated multiple anomalies.	false
+37a78dcb88b68a099289be8d75bb83d627904de8	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused Lichtenstein-Knorr syndrome characterized by @DISEASE$ and @PHENOTYPICFEATURE$, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo mutation, c.796A>C (p.Asn266His) which associated multiple anomalies.	false
+efde0a8a896b5f7765a2c6ed19961f0c4959482f	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused @DISEASE$ characterized by cerebellar ataxia and @PHENOTYPICFEATURE$, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo mutation, c.796A>C (p.Asn266His) which associated multiple anomalies.	false
+6c333f9fdbd7a06b6b4d73eb6c5ead3d67954c35	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused @DISEASE$ characterized by cerebellar ataxia and sensorineural hearing loss, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo @PHENOTYPICFEATURE$, c.796A>C (p.Asn266His) which associated multiple anomalies.	false
+531ee5bbaa8d1b807b4f9944d3f0c64e7ef75dd7	Mutation of SLC9A1, encoding the major Na?/H? exchanger, causes @PHENOTYPICFEATURE$-deafness @DISEASE$.	has_symptom
+a7ec081a74850cb92d3e1ed380ac4cf331b67784	Mutation of SLC9A1, encoding the major Na?/H? exchanger, causes @DISEASE$-@PHENOTYPICFEATURE$ Lichtenstein-Knorr syndrome.	false
+2bc552b081f0fdf1ac2c289f9f6182639a987716	Mutation of SLC9A1, encoding the major Na?/H? exchanger, causes ataxia-@PHENOTYPICFEATURE$ @DISEASE$.	false
+c31411f2c61c5fa883b13b1a4edba4ea8e3ffe61	We report the history of an infant who presented with hypotonic @PHENOTYPICFEATURE$ and metabolic alkalosis, in whom the diagnosis of @DISEASE$ was made on the basis of investigations for rare cystic fibrosis mutations.	has_symptom
+0f185a8b221bbaa9bac7cc72efbfbf4e1e240045	Recently, microdeletions of the FOX gene cluster at 16q24.1, comprising four genes, FOXF1, MTHFSD, FOXC2 and FOXL1, were reported to cause a phenotype resembling VACTERL association, with @PHENOTYPICFEATURE$, gastro-intestinal atresias (esophageal, duodenal and anal), congenital heart malformations, and urinary tract malformations, as well as a rare lethal developmental anomaly of the lung, @DISEASE$.	has_symptom
+9e883a5315a47b52ac546a1f4e83f293dbe9fd37	We report a patient with a large twisted @DISEASE$ associated with Meigs' syndrome, @PHENOTYPICFEATURE$ and severe hemolytic anemia that was treated by laparoscopic surgery.	has_symptom
+f496830fdd4ff2dee6f7d49d2c992eaa32f8208c	The majority of key features characteristic for @DISEASE$ were absent in our patients (eg, the typical posture of arms, intrauterine growth retardation, @PHENOTYPICFEATURE$, trigonocephaly, typical facial gestalt with nevus flammeus of the forehead and exophthalmos).	has_symptom
+d440acfc4821e482d5c48c24380ae9ee2a020934	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable @PHENOTYPICFEATURE$, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	has_symptom
+1d5e3dc937b02d2ce6b66594d1bd7cbd2a2b71b3	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe @DISEASE$, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+e3c1bc28c6fc2cfd521b81c0b65b0bd570f668e0	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+e6b10efaeb00725899c1097dd295f01543e1d5b0	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable microcephaly, @PHENOTYPICFEATURE$, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+d59bdb7769542910aa16312c7982fca01bdac2ef	Bohring-Opitz syndrome is a rare @DISEASE$ characterized by distinctive facial features, variable microcephaly, @PHENOTYPICFEATURE$, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+c722453ceb71abd6ff8f03820f54f99dc994d8aa	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable @DISEASE$, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+3c0953202c2bd0faaf0dce7d25a23d3a0824c49f	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable @DISEASE$, @PHENOTYPICFEATURE$, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+127a8546bf6e10fd0917a9e4f71571757a1e3529	Bohring-Opitz syndrome is a rare @DISEASE$ characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+149d7c93bd1272547cbd60416747d70c09adb468	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, @PHENOTYPICFEATURE$, nevus flammeus, severe @DISEASE$, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+1ee3bad846b62bfaeb701942a366531a764ccf7c	@DISEASE$ (BOS) is characterized clinically by severe developmental delays, @PHENOTYPICFEATURE$, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others).	has_symptom
+07b5fc650569b6ddc686ecfa4caee88ff3f05346	@DISEASE$ (BOS) is characterized clinically by severe developmental delays, microcephaly, @PHENOTYPICFEATURE$, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others).	false
+a754c6e9a80de3407a30b344bd9482732283768f	Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, @DISEASE$, @PHENOTYPICFEATURE$, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others).	false
+1a255001af56a59f04ea5c4f56df12df8d7e4296	For example, @PHENOTYPICFEATURE$ and hypotonia correlated best with @DISEASE$.	has_symptom
+fe56e41eac78d5fc77ad23d68e5dd046904af6d7	Acute life-threatening manifestations and severe therapy-resistant manifestations, like refractory @PHENOTYPICFEATURE$ renal disease, diffuse alveolar hemorrhage, neuropsychiatric SLE, thrombotic thrombocytopenic purpura, @DISEASE$, hyperviscosity syndrome and cryoglobulinemia, are the indications for which plasma exchange might have a beneficial therapeutic role.	has_symptom
+839ea56511b68bdf9847aa3dc282283645f49168	We examined whether @DISEASE$-HD genes and their co-factors are regulated during kainic acid induced @PHENOTYPICFEATURE$ in the adult rat hippocampus as well as in early postnatal rats, when the hippocampal circuitry is not fully developed.	has_symptom
+d3aa8b9f5386708c901664137178271954ca53c6	Our results provide evidence of temporal and spatial @PHENOTYPICFEATURE$ mediated regulation of LIM-HD family members and suggest that @DISEASE$-HD gene function may be involved in activity dependent plasticity in the adult hippocampus.	has_symptom
+19a015b2f81fecdb75c6ba5307cfaf8b5e87b1e5	We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple @DISEASE$ (DA), peculiar facial appearance, cleft palate, @PHENOTYPICFEATURE$, hydronephrosis, retentio testis, and normal intelligence and karyotypes.	has_symptom
+d9ff38529fb00ef3dc7d277ba6f2d12f12f6c8c3	We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, @PHENOTYPICFEATURE$, @DISEASE$, hydronephrosis, retentio testis, and normal intelligence and karyotypes.	false
+d138625d43acab5f7f01e458a73fa98fb4f7d030	We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple @DISEASE$ (DA), peculiar facial appearance, @PHENOTYPICFEATURE$, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes.	false
+d0afec6c03ea53ca8be79c3747f1095b7e0d6401	@DISEASE$ is a potential etiology of @PHENOTYPICFEATURE$ characterized by bulbous dilatation of the fundus of the internal auditory canal (IAC) and the absence of the bony plates separating the basal turn of the cochlea and IAC.	has_symptom
+1044f4a5db41f138b7ee5678e830ad9c30065882	One subject showed the clinical characteristics of classic @DISEASE$; however, the other, who was a vegetarian, showed @PHENOTYPICFEATURE$ and red cell deformity, but not proteinuria.	has_symptom
+292d9f74eae19577f7cb94d1227777e1ca1f6b35	and several mutations of this gene cause @DISEASE$ which is inherited as an autosomal recessive trait and which is characterized by @PHENOTYPICFEATURE$, normochromic normocytic anemia, and renal dysfunction.	has_symptom
+ed6737376fde6500abbd8744c7ac6654826267fc	Their clinical manifestations including @PHENOTYPICFEATURE$, anemia, proteinuria, and hypoalphalipoproteinemia were identical for familial @DISEASE$.	has_symptom
+e542fef0bd25d25bb59ce9661d7c332f7ec4f26a	Their clinical manifestations including corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and @DISEASE$ were identical for familial LCAT deficiency.	false
+0ce898254c7d96f3bd4812c65669ea939724733d	Their clinical manifestations including corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and hypoalphalipoproteinemia were identical for familial @DISEASE$.	false
+a309e23a5906eab64408aeeec13e922bc514a2e3	Their clinical manifestations including @DISEASE$, @PHENOTYPICFEATURE$, proteinuria, and hypoalphalipoproteinemia were identical for familial LCAT deficiency.	false
+e9524bd5dcbc03db349d4ff4598444cfce7da9d3	Their clinical manifestations including corneal opacities, @PHENOTYPICFEATURE$, @DISEASE$, and hypoalphalipoproteinemia were identical for familial LCAT deficiency.	false
+702803a17ad55dab1e3207d94ac375b4ae21acb3	Familial @DISEASE$ (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	has_symptom
+e2bbaf2b9daac36290d2fa2605b0b8771fed4fe7	Familial @DISEASE$ (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+2df748ba196532940b32379f14529a5835bfdee8	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities, @DISEASE$ and proteinuria with @PHENOTYPICFEATURE$.	false
+376847314e311ca38de51701406f1d5c55e35069	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and @DISEASE$ with @PHENOTYPICFEATURE$.	false
+19fcf8ff604bd54f3f10c717b70b2a7a4e61279e	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @DISEASE$, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+685e2f6639620e8bbbb96f9519c0944f7a25427e	Familial LCAT deficiency (FLD) is a rare @DISEASE$ associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+3717010b54080b014a752ce85c8cbe2bebe2560d	Familial LCAT deficiency (@DISEASE$) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+6fdea609e9fc40f52cc8ec1d6039e4201bef8bc1	Patients with @DISEASE$ have both prebeta-1 and alpha-4 HDL present in their plasma and develop @PHENOTYPICFEATURE$, anemia, proteinuria, and kidney failure.	has_symptom
+c1b3945a66b8cf42be647604fc01d39e0fdd87bb	Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, @DISEASE$, and kidney failure.	false
+adf3b22a8793c6eaf1bcf64a2884109ab7d0e42c	Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop @DISEASE$, @PHENOTYPICFEATURE$, proteinuria, and kidney failure.	false
+1df23763cae69a73c9dde81e1d8231e63ec8fe77	Patients with @DISEASE$ have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and kidney failure.	false
+f5e7f87e7f1c2b0707c06af7016334bff70680ed	Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and @DISEASE$.	false
+614cdfc3d99a55903c8a05ca6f99c2e0ae24bf9e	Homozygosity for loss-of-function mutations causes familial @DISEASE$ (FLD), characterized by @PHENOTYPICFEATURE$, anemia, and renal involvement.	has_symptom
+d7f45ee6262e4d8f28d9d655d3676a0b5c413c7a	Clinical features of familial @DISEASE$ include @PHENOTYPICFEATURE$, anemia, and proteinuria.	has_symptom
+6cbcd2f2ed57076ba41bd94e513944aa6e2e2a36	A 60-year-old Ecuadorian woman with bilateral @PHENOTYPICFEATURE$ and confirmed @DISEASE$ was imaged with Fourier domain optical coherence tomography (FD-OCT) and noncontact Rostock confocal laser scanning microscopy.	has_symptom
+9b3ae43cf1485c5f4c2830ee4169fb2608522044	The proband of the Finnish @DISEASE$ family had @PHENOTYPICFEATURE$, proteinuria, anemia with stomatocytosis, low serum HDL cholesterol (0.27 mmol/L), and low LCAT activity.	has_symptom
+ca06a58d1d36e18f27f3ca0114725a196b782ad4	A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+0762b58ed0480b996a88c73e09700ef66e06248f	@DISEASE$ is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/@PHENOTYPICFEATURE$.	has_symptom
+6d5b9cd92eb1929112a6626c4f8d28defa323c61	Cranial nerve dysfunction was found to be the primary clinical feature of @DISEASE$ impacting feeding development, reflected in a high prevalence of weak sucking/chewing, @PHENOTYPICFEATURE$, gastroesophageal reflux, and aspiration.	has_symptom
+69326d4ef35d26600a909240e2527bdb00a91ffd	Two patients (one girl, one boy) with @DISEASE$ (situs inversus, bronchiectasis, sinusitis), despite pulmonary problems and associated congenital @PHENOTYPICFEATURE$, were operated on at the ages of 4 years and 7 years, respectively.	has_symptom
+0b5fd2fa5692af9e6d788806bf85d253c82120e5	Patients with @DISEASE$ and associated congenital @PHENOTYPICFEATURE$ can successfully undergo multiple cardiac operations with good long-term outcome.	has_symptom
+0a4121cca6242ef714ef76e9b3377ac50636487d	Heterotaxy and complex structural @PHENOTYPICFEATURE$ in a mutant mouse model of @DISEASE$.	has_symptom
+73333924b23c6e78e17d630c6fcef664144fd8f6	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, @PHENOTYPICFEATURE$, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	has_symptom
+f2f8ab2df1824c6751ab113edd6e55eaa9c5ff1c	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, @PHENOTYPICFEATURE$, @DISEASE$, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+751af4751d0a397fc521eeca82344ffc1667879b	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+29e77dd975940fb9b4196a6a1bb4200ec3a0a563	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, @DISEASE$, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+53655d48b7bbad6a02eb023c5d5564ade69ddfe8	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, @DISEASE$, @PHENOTYPICFEATURE$, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+fe8f444095691f0a29a746e5ed131b25f2db02b0	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, @PHENOTYPICFEATURE$, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+e6d23425f3a09ee839a981d2cb14363edc4498ce	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, senile-like appearance, loss of subcutaneous adipose tissue, @DISEASE$, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+ea5332e1d21e6f3ce7e6fa8c74657b80771f3f54	Back @DISEASE$ (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation, retinal pigmentary degeneration, @PHENOTYPICFEATURE$, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	has_symptom
+d8b1143aeb100f5b79478beaa2382abb519e3397	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, @PHENOTYPICFEATURE$, mental retardation, retinal pigmentary degeneration, @DISEASE$, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+bb37a6cbe88d33078d6dab6732a02dbbe7f12e44	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, @PHENOTYPICFEATURE$, retinal @DISEASE$ degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+e51db41a2d370043843b1f502fe8d2125fe0b614	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, @PHENOTYPICFEATURE$, retinal pigmentary degeneration, @DISEASE$, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+7ffc677f2a9eb5b1b0b4250f2bb1ac1c2968717c	Back @DISEASE$ (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, @PHENOTYPICFEATURE$, mental retardation, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+6a3263b79d6501eb17dcd7b963d7812b39edae3a	Back @DISEASE$ (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, @PHENOTYPICFEATURE$, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+4a47331ef44fa527ac43354576a97165c29d8948	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, @PHENOTYPICFEATURE$, mental retardation, retinal @DISEASE$ degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+bffabb5dd352e5a84137485c79fdb8aeac1c5b7e	@DISEASE$ is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, @PHENOTYPICFEATURE$, skeletal and neurologic abnormalities.	has_symptom
+75078514549bab482fd5a98a644878aa4c924850	@DISEASE$ is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, @PHENOTYPICFEATURE$, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities.	false
+af2637f8171a2baebfb638074ed79c80cb1bffb1	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, @PHENOTYPICFEATURE$, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, @DISEASE$, skeletal and neurologic abnormalities.	false
+bb3ff35a99ebd0659f7c9307f1c79475ed37dd9f	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, @DISEASE$ degeneration of retina, microcephaly, deafness, skeletal and @PHENOTYPICFEATURE$.	false
+0e3a059fbf9fbe0cbc9f39101069d3c769618814	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, @DISEASE$ degeneration of retina, @PHENOTYPICFEATURE$, deafness, skeletal and neurologic abnormalities.	false
+6b1cc8f6adc0e7083ec1185ec387f3bf6afc46b5	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, @DISEASE$, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and @PHENOTYPICFEATURE$.	false
+917481acc09497ec3c1ed7c28721b0d905a95a31	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, @DISEASE$, skeletal and @PHENOTYPICFEATURE$.	false
+9df4a45fa4b51177c0339322223ca0e8383d379d	@DISEASE$ is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, @PHENOTYPICFEATURE$, deafness, skeletal and neurologic abnormalities.	false
+e430a795bfaeb910437a4c4a4d338dc71d5bc9e2	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, @PHENOTYPICFEATURE$, photosensitive dermatitis, loss of adipose tissue, @DISEASE$ degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities.	false
+98796222c49f57f6c13bd5437e648d7e037ec561	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, @PHENOTYPICFEATURE$, @DISEASE$, skeletal and neurologic abnormalities.	false
+df615b165bf972dd20a883db4e9b6f996a8dcd3b	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, @PHENOTYPICFEATURE$, photosensitive dermatitis, loss of adipose tissue, pigmentary @DISEASE$, microcephaly, deafness, skeletal and neurologic abnormalities.	false
+5a458007437cdf49a6d49fdf542879a99d9ed88f	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, @DISEASE$, loss of adipose tissue, pigmentary degeneration of retina, @PHENOTYPICFEATURE$, deafness, skeletal and neurologic abnormalities.	false
+a551dfc09da7342a2537e201421d37990ddf1f99	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, @PHENOTYPICFEATURE$, @DISEASE$, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities.	false
+ac62c5b2fe8125e99a865d72468c79b17251b229	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary @DISEASE$, @PHENOTYPICFEATURE$, deafness, skeletal and neurologic abnormalities.	false
+9ebf980906293c81213614c36168810cb0a24a78	Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary @DISEASE$, microcephaly, deafness, skeletal and @PHENOTYPICFEATURE$.	false
+3d2347bff24f5f0ea65bd310a5e6b1064b38e41a	@DISEASE$ is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and @PHENOTYPICFEATURE$.	false
+c9a2652afdb6778a99bcb33ebe05ad844ad88947	[Nanism with retinitis pigmentosa & @PHENOTYPICFEATURE$; @DISEASE$].	has_symptom
+4d013f57c61f7ffa2053d914750def96de939ee0	Primary @PHENOTYPICFEATURE$ is characteristic for @DISEASE$, the major disease components of which are adrenal insufficiency, hypoparathyroidism, and candidiasis.	has_symptom
+bb507d4fba42e41fe14a93319c3583f9452b37d0	Primary hypoparathyroidism is characteristic for @DISEASE$, the major disease components of which are adrenal insufficiency, @PHENOTYPICFEATURE$, and candidiasis.	has_symptom
+cd57010da018163b58b16d2db930b7d19b72efb7	@DISEASE$ (APECED) is clinically characterized by the presence of two of the three major clinical symptoms: Addison's disease and/or @PHENOTYPICFEATURE$ and/or chronic mucocutaneous candidiasis.	has_symptom
+6f6af8e3b2ad04182e92e790e36d469ec0c0d699	@DISEASE$ (APECED) is a rare autosomal recessive disorder defined by the presence of two of three conditions, namely, Addison's disease, @PHENOTYPICFEATURE$, and mucocutaneous candidiasis.	has_symptom
+dd6b465efb9d1263680c587a70c13694294814c1	@DISEASE$ (APECED) is a rare autosomal recessive disorder characterized by Addison's disease and/or @PHENOTYPICFEATURE$ and/or chronic mucocutaneous candidiasis.	has_symptom
+9943c26c492d99f31f6925382a2e5ad4d79a3bfa	We describe a 16-year-old girl with @DISEASE$ including @PHENOTYPICFEATURE$, who had osteoporosis that improved rapidly with parathyroid hormone replacement therapy.	has_symptom
+9b938d280c88f9d67e90337e3f0bb0e791293a6d	@DISEASE$ (APECED) is an autosomal-recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis, @PHENOTYPICFEATURE$, or Addison's disease.	has_symptom
+54f15f4a4701d7e682f124bdd60495a6a1ec4112	Activating antibodies directed at the extracellular calcium-sensing receptor (CaSR) have been described in autoimmune hypoparathyroidism in the setting of isolated @PHENOTYPICFEATURE$ or @DISEASE$.	has_symptom
+3357382ef576117890e581c69baf42b5e381a4c5	APS-I or @DISEASE$ appears in children firstly affected by recurrent muco-cutaneous candidiasis and @PHENOTYPICFEATURE$, followed by adrenocortical insufficiency and by other autoimmune processes.	has_symptom
+f20df3c6b1e670068dc6ddcc0a0bf299f6dc7aa9	The prevalence of @DISEASE$ (APS1) among isolated @PHENOTYPICFEATURE$ (HP) or primary adrenal insufficiency (PAI) is not well established.	has_symptom
+d4ab29cd0ac744f7f92333fa7bad39938e291356	@DISEASE$ (APECED) is a rare syndrome characterized by chronic candidiasis, chronic @PHENOTYPICFEATURE$ and Addison's disease.	has_symptom
+3ebbb80b4e3c1dbd9b0caa0b9e2499bb81f4ab09	Ovid Medline and PubMed from 1950 to present were searched using the following strategies: [<saliva or salivary>and<cortisol or hydrocortisone>and<Cushing or Cushing's>] and [<saliva or salivary>and<cortisol or hydrocortisone>and<adrenal insufficiency or @PHENOTYPICFEATURE$ or hypopituitarism or @DISEASE$>].	has_symptom
+db8b70e6a40bcbb692a55555b060d4c352616f3b	Ovid Medline and PubMed from 1950 to present were searched using the following strategies: [<saliva or salivary>and<cortisol or hydrocortisone>and<Cushing or Cushing's>] and [<saliva or salivary>and<cortisol or hydrocortisone>and<@DISEASE$ or hypoadrenalism or @PHENOTYPICFEATURE$ or Addison's disease>].	false
+8702b902db5dafae0d748048dcc692df0766c444	Ovid Medline and PubMed from 1950 to present were searched using the following strategies: [<saliva or salivary>and<cortisol or hydrocortisone>and<Cushing or Cushing's>] and [<saliva or salivary>and<cortisol or hydrocortisone>and<adrenal insufficiency or hypoadrenalism or @PHENOTYPICFEATURE$ or @DISEASE$>].	false
+05bd7560216cdbec09fa9df13c0dba97a74fae64	Ovid Medline and PubMed from 1950 to present were searched using the following strategies: [<saliva or salivary>and<cortisol or hydrocortisone>and<Cushing or Cushing's>] and [<saliva or salivary>and<cortisol or hydrocortisone>and<adrenal insufficiency or @DISEASE$ or @PHENOTYPICFEATURE$ or Addison's disease>].	false
+4a2c710569dd8a37649a70a1cfffded1f2bd72c2	Twenty patients (13 men, 7 women, 26-76 yr, 11 with @DISEASE$, 9 with central @PHENOTYPICFEATURE$) were recruited in a placebo-controlled, randomized study.	has_symptom
+61b0cbc66787a70893b561aa2ab39bfed234979c	We report the case of a patient who suffered recurrent episodes of @PHENOTYPICFEATURE$ crisis, despite conventional replacement therapy for @DISEASE$.	has_symptom
+678511b2fcccec74c6703cf828a803b167da04e9	The maternal complications rate of fetal distress, premature and the neonatal complications rate of fetal macrosomia, @DISEASE$ (NRDS), low weight, congenital heart disease, neonatal @PHENOTYPICFEATURE$, and rate in neonatal NICU were significantly lower than those in the control group (P<0.05).	has_symptom
+0ffd759a0db081056a63fa883c1f5af5dd5b7a30	Age, parity, gestational age of PPROM and delivery, latency period, oligohydramnios, white blood cell (WBC) count and serum C-reactive protein (CRP) level at admission and before delivery, the incidence of @DISEASE$ (NRDS), neonatal @PHENOTYPICFEATURE$, bronchopulmonary dysplasia, necrotizing enterocolitis, early-onset neonatal sepsis, abnormal brain sonography findings and mortality were compared between two groups.	has_symptom
+8cd98f52a7d56dee485cb48c4c93a3b2e7659a10	Specific LU findings have been described for some types of neonatal lung injury, such as @DISEASE$, transient tachypnea of the neonate, meconium aspiration syndrome, and neonatal @PHENOTYPICFEATURE$.	has_symptom
+109a2ff42344aff32e4761bf1f91fde32e1c4c07	Genetic disorders of the surfactant homeostasis genes may result in lack of surfactant or cytotoxicity, and lead to multiple lung diseases in neonates, children and adults, including @DISEASE$, interstitial @PHENOTYPICFEATURE$, pulmonary alveolar proteinosis, and pulmonary fibrosis.	has_symptom
+f471a7fe0cd3118f12c5ebeed37e8e707603d363	The technique of high-frequency oscillatory ventilation (HFOV) was successfully used in a preterm infant with severe @DISEASE$ and in a term neonate presenting with intrauterine @PHENOTYPICFEATURE$ and associated severe pneumomediastinum.	has_symptom
+02802b6d25cc64eae72b20368a4a52419bb0eba5	The rate of 1-min Apgar score <7, abnormal neonatal intracranial ultrasound findings, neonatal @PHENOTYPICFEATURE$, bronchopulmonary dysplasia, early-onset neonatal sepsis, and mortality were higher in HCA patients, but no significant difference was observed in the incidence of @DISEASE$, necrotizing enterocolitis, hyperbilirubinemia, or hypoglycemia.	has_symptom
+057d2c475d5e93852a6d51c292312a3474d25f9e	A newborn baby presented with @DISEASE$, interstitial @PHENOTYPICFEATURE$, jaundice, hepatosplenomegaly, and unusual bone manifestations with lytic and sclerotic bone lesions and virtually absent periosteal reaction.	has_symptom
+0dec85ed3caf2a1a6046cb2e23b4c68ba4d5b0a2	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other @PHENOTYPICFEATURE$ but with visceral malformations.	has_symptom
+2f9751ca7867293feba61e9a0ac082024d2d21d7	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other @PHENOTYPICFEATURE$ but with visceral malformations.	has_symptom
+0b1861857d3e36413f2ba510f2e14d3c09421381	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (@DISEASE$), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+04dd6fc06003b5c614b0b62c993d7bf2ea22f524	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+2f17e0577a157e2df0d9a2d68fab6dd9ced7f5fa	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (@DISEASE$), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+98a76c11412d350e98bb86fa9cdb147ed171fbbc	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with @PHENOTYPICFEATURE$ without other skeletal abnormalities but with visceral malformations.	false
+a575a195e70caaa716888f1de26a40d42f0aad12	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with @PHENOTYPICFEATURE$ without other skeletal abnormalities but with visceral malformations.	false
+b5da72a089c9f11452cb9e7fbc78979772feb3d1	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with @PHENOTYPICFEATURE$ without other @DISEASE$ but with visceral malformations.	false
+4e035d0a0300bb579c412b2b10121f1ad5379c4a	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other @DISEASE$ but with visceral malformations.	false
+1cce823663cbad003a285961e01edeaddec49e97	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (@DISEASE$), and a case with @PHENOTYPICFEATURE$ without other skeletal abnormalities but with visceral malformations.	false
+3e09c747179ca56d408972c4c2db6a41b6b8b7f3	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+e92db7cc9a2f0e09c2165214599c164a37f53cf8	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+93dbb1695d57c6a09a6b334268a35750d2947f28	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+8796f0c6250b6ab24e4dfa509d22036888e88421	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other @DISEASE$ but with visceral malformations.	false
+b65a56a9d86e1f1448e610191fbfbaf359537948	The authors report a rare case of @DISEASE$ occurring among two siblings with oral mucosal, dental and @PHENOTYPICFEATURE$.	has_symptom
+010bd15febd399ad9bdf2e5a2cedf862341a144e	A previously unrecognised phenotype characterised by obesity, @PHENOTYPICFEATURE$, and ability to speak in patients with @DISEASE$ caused by an imprinting defect.	has_symptom
+f46217b88856bb79dacafcee714e100d7bf8f0b3	A previously unrecognised phenotype characterised by @PHENOTYPICFEATURE$, @DISEASE$, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.	false
+699895cfd09610c87517096759f7db10d9992f12	A previously unrecognised phenotype characterised by @PHENOTYPICFEATURE$, muscular hypotonia, and ability to speak in patients with @DISEASE$ caused by an imprinting defect.	false
+bf7ab2e004d729f804bb7aadd6280cd08385c836	While heterozygous mutations in the AFG3L2 gene have been linked to spinocerebellar @PHENOTYPICFEATURE$ 28 (SCA28), homozygous mutations in the same gene can cause @DISEASE$ (SPAX5).	has_symptom
+7388aff7de4c90dfbe2165070a1d02899f20ce85	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by mental retardation, absent speech, @PHENOTYPICFEATURE$, and a happy disposition.	has_symptom
+a165b35d1920147a70b26daa2a60caebabe29a57	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, absent speech, ataxia, and a happy disposition.	false
+701baf06caf2f06a87ffc9566472020f5ecfddbc	Angelman syndrome (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, absent speech, @DISEASE$, and a happy disposition.	false
+56018527507810e29ab1dfbdf9e9e2f805c9f2d6	@DISEASE$ is characterized by loss of speech, severe developmental delay, seizures, and @PHENOTYPICFEATURE$.	has_symptom
+81b5bbd5bb8583ce2a97dd75b95a1e632eb0875f	@DISEASE$ is characterized by loss of speech, severe developmental delay, @PHENOTYPICFEATURE$, and ataxia.	false
+164fb94e3808bf6e6bf0206f414801941bbd4d43	Angelman syndrome is characterized by loss of speech, severe developmental delay, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4045b946b4eff50384c3114c0705ec5db5b6e892	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by severe mental retardation, @PHENOTYPICFEATURE$, and a happy/sociable disposition.	has_symptom
+24c0fc151ae7968d4d805307d03dc3cf19c7a0b1	Angelman syndrome (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and a happy/sociable disposition.	false
+a3fd6b2ed7ef6eec6235cbbf14b0b3479daba906	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, ataxia, and a happy/sociable disposition.	false
+3d0c3d924471d4e5eed02269913edb73cb830698	Movement disorders are nearly universal in @DISEASE$, most frequently presenting with @PHENOTYPICFEATURE$ and tremor.	has_symptom
+ebd7dd769bd45369eb623b059d7daf96822ded5f	@DISEASE$ (AS) is characterized by severe cognitive disruption, seizures, difficulty speaking and @PHENOTYPICFEATURE$.	has_symptom
+5542db35446ae98020fbb17d3754b7a445897447	@DISEASE$ (AS) is characterized by severe cognitive disruption, @PHENOTYPICFEATURE$, difficulty speaking and ataxia.	false
+0d1498ffa1425672f7c8dda45898f6bfabedf745	Angelman syndrome (AS) is characterized by severe cognitive disruption, @PHENOTYPICFEATURE$, difficulty speaking and @DISEASE$.	false
+c8b132149b629c4139e0241fc571bc61be931694	Fast cerebellar oscillation associated with @PHENOTYPICFEATURE$ in a mouse model of @DISEASE$.	has_symptom
+09d75cd1091ac1e2968ff3c2dbf8295ebbc82b11	were reported for @PHENOTYPICFEATURE$ and tremor, respectively, in @DISEASE$.	has_symptom
+9242ea20e98e6329bb4b0b3f2e75184f7b216292	@DISEASE$ (AS) is characterized by severe intellectual disability, epilepsy and @PHENOTYPICFEATURE$ motor dysfunction.	has_symptom
+db5d3dd75140fb1c49da6469473a6819bad24ea1	Angelman syndrome (AS) is characterized by severe @PHENOTYPICFEATURE$, epilepsy and @DISEASE$ motor dysfunction.	false
+64f06a5c5638f0b3592f8636f744aa8ea4de27f2	@DISEASE$ (AS) is characterized by severe @PHENOTYPICFEATURE$, epilepsy and ataxic motor dysfunction.	false
+c98cc3b298b9fccd868027a73bb4883a6507d729	@DISEASE$ is a neurodevelopmental disorder characterized by intellectual disabilities, @PHENOTYPICFEATURE$, and unusually happy affect.	has_symptom
+558f18604b8c8bc586e8dbb24cbeeb4327c17523	@DISEASE$ (AS) is characterized by severe intellectual disability with @PHENOTYPICFEATURE$, epilepsy, and behavioral uniqueness.	has_symptom
+4fbc80309d11c6eb4e3ac0184840bc5c2ce0b8cb	In Troyer syndrome, an autosomal recessive form of @DISEASE$, patients have dysarthria, distal amyotrophy, developmental delay and @PHENOTYPICFEATURE$ in addition to spastic paraparesis.	has_symptom
+04bb61edc2cb96c70eeef5b4ba763e386744868d	Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with @DISEASE$, @PHENOTYPICFEATURE$, dysarthria and developmental delay-core features of Troyer syndrome-and a novel mutation in the SPG20 gene, which is also mutated in the Amish.	has_symptom
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+31230ff9ff749db8ea9feb086545e30d7b05c0ec	Low glycemic index treatment for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a7a6f5010de2cbeece85f7afea57af35bc46cf31	Cannabidiol attenuates @PHENOTYPICFEATURE$ and EEG abnormalities in @DISEASE$ model mice.	has_symptom
+46f6b0c8983e29cc934139e5a23e6fb38327e482	The vast majority of patients with @DISEASE$ have @PHENOTYPICFEATURE$.	has_symptom
+b030857974466ae6ae071be0c2fb58641049939a	Our results indicate that this dietary therapy is highly effective in treating @DISEASE$-related @PHENOTYPICFEATURE$.	has_symptom
+4f7890b747fb1666414e13025cfe98f3ba5a70e3	@DISEASE$ in three siblings: characteristic @PHENOTYPICFEATURE$ and EEG abnormalities.	has_symptom
+24e5f1c43344d6f60f5c10aa1b06c76dea0e67b5	Electroclinical characteristics of @PHENOTYPICFEATURE$-comparing Prader--Willi syndrome with @DISEASE$.	has_symptom
+a90ed6275a155b2eb12a6b8150a6d212c53e045b	Lovastatin suppresses hyperexcitability and @PHENOTYPICFEATURE$ in @DISEASE$ model.	has_symptom
+23822b71d08af5966b8277b20093806579b53c54	Approximately, 90% of patients with @DISEASE$ present with @PHENOTYPICFEATURE$.	has_symptom
+1a40426fbb8d376c46317b08956431bcf7822f3c	@DISEASE$ presenting with a rare @PHENOTYPICFEATURE$ type in a patient with 15q11.2	has_symptom
+bbf9c75bf79f290fc0df7f7d51b0aaefcb0909fc	Furthermore, the backbone structural scaffolds of these four lead compounds could serve as building blocks when designing drug-like molecules for the treatment of @DISEASE$ viral @PHENOTYPICFEATURE$.	has_symptom
+a9d3a9cef0a2d7f3e60d23d2ca9d22e56271ca83	@DISEASE$ infection is characterized by @PHENOTYPICFEATURE$, rash and arthritis.	has_symptom
+22172e206bd4a5c54f61f31dcf458440f924192f	Of 54 patients with @PHENOTYPICFEATURE$, serology confirmed 21 with @DISEASE$ infection, 20 with Dengue infection, and three co-infections, with sensitivity of the clinical diagnosis of 92% for Chikungunya fever and 95% for Dengue fever.	has_symptom
+3b75001f273f2ddae0ba497cd9bdeb93f6480ef2	Of 54 patients with @PHENOTYPICFEATURE$, serology confirmed 21 with Chikungunya infection, 20 with Dengue infection, and three co-infections, with sensitivity of the clinical diagnosis of 92% for @DISEASE$ and 95% for Dengue fever.	has_symptom
+75fa5d993865b208c2d6dd9f9e295a60d714b35c	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ with sudden onset, headache, backache, myalgia, and rash as well as painful and long-lasting arthralgia, affecting primarily the peripheral joints.	has_symptom
+3a705c5fc5707b6c9aaf4c63a5088f2b0c8c84a8	CHIKV causes @DISEASE$ (CHIK), a syndrome characterized by rash, @PHENOTYPICFEATURE$, and debilitating, often chronic arthritis.	has_symptom
+914878f5896b7197eea38332b3f5f85fdf033074	These personal protective measures are able to minimize arthropod bites and prevent @DISEASE$ infection, dengue @PHENOTYPICFEATURE$ and Lyme disease.	has_symptom
+ea0ab2e1aebbc49bcd81fb40050ed9ff7064e4ef	@DISEASE$ causes @PHENOTYPICFEATURE$ and severe and persistent joint pain.	has_symptom
+0427f74f752153b3dfa125fd3678db3199403bb6	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ with sudden onset, arthralgia, rash, headache and myalgia.	has_symptom
+09b3145e448f432b9f18994b2e2e53fe5d2da619	@DISEASE$ is a viral disease characterized by @PHENOTYPICFEATURE$, arthralgia and rash.	has_symptom
+d1185ea05c3ba5f026f17471695fc291239f10ca	This study highlights a suggestive clinical presentation of @DISEASE$ diseases combining pain, @PHENOTYPICFEATURE$, tachycardia, foot and/or hand edema.	has_symptom
+82fb9a35d623d495d824197a1cf595d4b82f6bb4	This study highlights a suggestive clinical presentation of @DISEASE$ diseases combining pain, fever, tachycardia, foot and/or hand @PHENOTYPICFEATURE$.	false
+936a9049687709841376c1ba239d7d81b6a3bc9e	This study highlights a suggestive clinical presentation of Chikungunya diseases combining pain, @DISEASE$, tachycardia, foot and/or hand @PHENOTYPICFEATURE$.	false
+593acd8b28b18dd4bc9b439d3f796a9035660812	Diagnostic difficulties result from a fact that symptoms of acute hematoma such as headache, nausea, vomiting, apathy, sleepiness, paresthesia and @PHENOTYPICFEATURE$ may also suggest @DISEASE$, dialytic dementia as well as hypertensive encephalopathy.	has_symptom
+b5a26c1716490a68394070754d80f4ebc062b10d	Diagnostic difficulties result from a fact that symptoms of acute hematoma such as headache, nausea, @PHENOTYPICFEATURE$, apathy, sleepiness, paresthesia and @DISEASE$ may also suggest dysequilibrium syndrome, dialytic dementia as well as hypertensive encephalopathy.	false
+f7c7f89a82e9fe4d3c307597e52115713e33ca34	Diagnostic difficulties result from a fact that symptoms of acute hematoma such as headache, nausea, @PHENOTYPICFEATURE$, apathy, sleepiness, paresthesia and seizures may also suggest dysequilibrium syndrome, dialytic dementia as well as @DISEASE$.	false
+4b132efb676b39358ad3e95c79ade212915b378e	Diagnostic difficulties result from a fact that symptoms of acute hematoma such as headache, nausea, @PHENOTYPICFEATURE$, apathy, sleepiness, paresthesia and seizures may also suggest @DISEASE$, dialytic dementia as well as hypertensive encephalopathy.	false
+c31fc48c4da2b0412375867030aba82f5d66418e	Diagnostic difficulties result from a fact that symptoms of acute hematoma such as headaches,, nausea, vomitis, apathy, sleepiness, parestesia and @PHENOTYPICFEATURE$ may also suggest @DISEASE$, dialytic dementia as well as hypertensive encephalopathy.	has_symptom
+7b768c11d8407c624a9818b989cb1a289cad58ba	We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with @PHENOTYPICFEATURE$, mental retardation (MR), and @DISEASE$ type 3 caused by a mutation in the recently cloned CA8 gene.	has_symptom
+afcf25b5a1aa5c3d2718396187a446c34f0451f4	We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with @DISEASE$, @PHENOTYPICFEATURE$ (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene.	false
+17494344cc3c88f8740642b672518b1a7716cb28	We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, @PHENOTYPICFEATURE$ (MR), and @DISEASE$ type 3 caused by a mutation in the recently cloned CA8 gene.	false
+78807c5193f1d045573d1dcd8230f60272d71ad6	Likewise, mutation I364M, which causes the neurological disorder @PHENOTYPICFEATURE$, mental retardation, and disequilibrium (@DISEASE$) syndrome, strongly interfered with the electrogenic lipid translocation.	has_symptom
+64da19bb5a15b18d03c3ff478bf65f82098e5947	Likewise, mutation I364M, which causes the neurological disorder @DISEASE$, @PHENOTYPICFEATURE$, and disequilibrium (CAMRQ) syndrome, strongly interfered with the electrogenic lipid translocation.	false
+dcff7b48bc6cfb983b97d1c77485b583d677d0ed	Likewise, mutation I364M, which causes the @DISEASE$ cerebellar ataxia, @PHENOTYPICFEATURE$, and disequilibrium (CAMRQ) syndrome, strongly interfered with the electrogenic lipid translocation.	false
+277e41005dcf13728a1073eeaa3342a13815b149	Likewise, mutation I364M, which causes the neurological disorder cerebellar ataxia, @PHENOTYPICFEATURE$, and disequilibrium (@DISEASE$) syndrome, strongly interfered with the electrogenic lipid translocation.	false
+7067097fb44336af16ceeebc8beb3d186507490d	Likewise, mutation I364M, which causes the neurological disorder cerebellar ataxia, @PHENOTYPICFEATURE$, and disequilibrium (CAMRQ) @DISEASE$, strongly interfered with the electrogenic lipid translocation.	false
+f33c355564d742924be74a0c8a34efc344d29c10	Her disturbance of the righting reflex in the tilt-table examination and the characteristic feature of her Romberg sign with directional preponderance also indicate that the bilateral loss of vestibular functions, i.e., vestibular @PHENOTYPICFEATURE$ caused her @DISEASE$.	has_symptom
+427c928517110925dde74fe5e0fb4532ffb54a6e	Three syndromes are described: (1) simple ataxia (signs of dyssynergia); (2) ataxic diplegia (@PHENOTYPICFEATURE$ with added diplegic spasticity); and (3) @DISEASE$ (defective postural control and equilibrium).	has_symptom
+33ff22d8a30bb2ebc4230b5af8889d8d602bd1db	Three syndromes are described: (1) simple @PHENOTYPICFEATURE$ (signs of dyssynergia); (2) ataxic diplegia (ataxia with added diplegic spasticity); and (3) @DISEASE$ (defective postural control and equilibrium).	has_symptom
+7f852ce58be218a7a27c8908796ce252e1934299	@DISEASE$ (DES) is a non-progressive congenital @PHENOTYPICFEATURE$ characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation.	has_symptom
+b151dfc37d46c5957fabaac0a6442c9cf0eb2c18	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @PHENOTYPICFEATURE$ and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as @DISEASE$ (DES).	has_symptom
+24dbd87404c03f3d9999b345d530998c0ec8f075	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and @PHENOTYPICFEATURE$ associated with cerebellar hypoplasia in the Hutterite population known as @DISEASE$ (DES).	false
+ea06054707ab6bd5a297490728bdaa03e9e0233b	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @DISEASE$ and mental retardation associated with @PHENOTYPICFEATURE$ in the Hutterite population known as dysequilibrium syndrome (DES).	false
+db935561ed4cb848ecb8686422f01dfd9d0e4795	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and mental retardation associated with @PHENOTYPICFEATURE$ in the Hutterite population known as @DISEASE$ (DES).	false
+1875efd7cc09ef289887d40328e6caf70a39c43f	A homozygous deletion encompassing VLDLR has previously been found to cause a @DISEASE$ of cerebellar ataxia and @PHENOTYPICFEATURE$ associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).	false
+c7fdb56a9749c9fe395ac0c3595ff9638b046ea9	A homozygous deletion encompassing VLDLR has previously been found to cause a @DISEASE$ of cerebellar ataxia and mental retardation associated with @PHENOTYPICFEATURE$ in the Hutterite population known as dysequilibrium syndrome (DES).	false
+d0693cfff37cdd0b10b6f966d0d8d05e61642ce2	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @DISEASE$ and @PHENOTYPICFEATURE$ associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).	false
+7eb399db9ba990d98983c5a2f9b45bae53548d7a	@DISEASE$ (CRMCC) is a rare multisystem disorder characterized by extensive @PHENOTYPICFEATURE$ and cysts, leukoencephalopathy, and retinal vascular abnormalities.	has_symptom
+d97908e277ac5adc87bd6643d7610dbb8a7e9fb8	@DISEASE$ (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinal @PHENOTYPICFEATURE$.	false
+044e1732b753e7023eab4e2a60b82108cbd111d8	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare multisystem disorder characterized by extensive @DISEASE$ and cysts, leukoencephalopathy, and retinal @PHENOTYPICFEATURE$.	false
+923bcb684649b0aa01dd75e7ce358ef4eb3739fd	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare @DISEASE$ characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinal @PHENOTYPICFEATURE$.	false
+b03260e3dc44c773c936986da73b3d96f859397e	After ruling out the most frequent causations of @PHENOTYPICFEATURE$, the association between the retinopathy and the neurological features was established, and @DISEASE$ was confirmed by a genetic study that revealed the presence of two hitherto unreported variants in heterozygosis in the CTC1 gene.	has_symptom
+5b312015bcf04109f11f011e1972478f11837c66	The association of Coats disease with intrauterine growth retardation, @PHENOTYPICFEATURE$, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines @DISEASE$ caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1.	has_symptom
+b0e7c50b9059f096f56ccb3358e09ece7380412a	It is important to rule out the most frequent entities that are accompanied by @PHENOTYPICFEATURE$, but other more remote genetic causes, such as @DISEASE$, should not be overlooked.	has_symptom
+62d4f076b71340fa0311b0904173c30879881aa0	@DISEASE$ is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable @PHENOTYPICFEATURE$, and hyperphosphatasia.	has_symptom
+fce0b1d6d1ba8202138b28faf34229f905b5aa80	@DISEASE$ is a glycophosphatidylinositol (GPI) deficiency characterized by @PHENOTYPICFEATURE$, distinctive facial features, intractable seizures, and hyperphosphatasia.	false
+46cd5b47461d803614daf50a6cfcdbc7b6b2cf72	Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by @PHENOTYPICFEATURE$, distinctive facial features, intractable @DISEASE$, and hyperphosphatasia.	false
+64995568d02e5c7279df5c88a3b185e95e78a934	Whether the @PHENOTYPICFEATURE$ and cognitive defects seen in @DISEASE$ patients are attributable in part to the constant hyperphosphatasia is not known, as there are more than 250 other proteins dependent on GPI for their anchoring to the plasma membrane.	has_symptom
+7b2ff9915fc124cca34ac79bd3d060dcab1b3e9f	@DISEASE$ is the triad of @PHENOTYPICFEATURE$, hyperphosphatasia, and mental disability.	has_symptom
+bdc31158d8a69c471e7498488122c7ec0dce13cb	@DISEASE$ is the triad of seizures, hyperphosphatasia, and @PHENOTYPICFEATURE$.	false
+9b29409ce43a3217cbf1236a366add0f387dd9e9	Mabry syndrome is the triad of @DISEASE$, hyperphosphatasia, and @PHENOTYPICFEATURE$.	false
+78aaa8f0be439aeb711abb9b30b72a205cd708a5	@DISEASE$, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+d3b849893c51900cc4777038c257d19a4615272c	@DISEASE$, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+96556bc050edbdc88f60b89bae781ae800358fae	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0630b1dcbe9d391e5c1662eb1c8563df184a9f89	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+f07af6776b8376bb1e95f1cb088e699b76b91222	Mabry syndrome, hyperphosphatasia mental retardation @DISEASE$ (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+c0f06525f202c62b48744e098e4922c59c6cd06f	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @DISEASE$.	false
+9bc3eed544773cad51b4876d97af69ab4b3f0892	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, intellectual disability, and seizures.	false
+109224cebdcf18253f356dcec5d509ff33e4ec55	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an @DISEASE$ characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	false
+4b4562e1ec2169841af12eba086db6f4517a8e03	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an @DISEASE$ characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+31acc8a64b2edd9550108b73ccf006141ec25b2b	@DISEASE$, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	false
+28defbbe19daefe9e2963e6e61e12a902e200339	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ @DISEASE$ (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	false
+702a0df6d075236bfcc1ea27e3da431597393ba2	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @PHENOTYPICFEATURE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	has_symptom
+322f0b3ba228c214f7dec2803cb1abb4c1fb6bf2	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+1ec29bf08807ce152050234379c2d947a70b2805	@DISEASE$ (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+8e3743d3642309e50e698eebfef8a9d7200d91f4	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an @DISEASE$ with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+036a7d3e4fa3f3ae44a32c6c61721925282d3481	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an @DISEASE$ with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+83e49723f7a705fba5d5cf32875f5edac5b16c4e	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe @PHENOTYPICFEATURE$, @DISEASE$, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+62f5f023b5815dd8965ea6889e71488e5f556241	Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, @DISEASE$, elevated alkaline phosphatase, brachytelephalangy and @PHENOTYPICFEATURE$, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins.	false
+0a6c656b427740195a72c96865a13a977e61dd5b	Hyperphosphatasia with @PHENOTYPICFEATURE$, neurologic deficit, and characteristic facial features: Five new patients with @DISEASE$.	has_symptom
+b3bf9bf61a81d4253898385704d9ac255303d49a	@DISEASE$ (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, @PHENOTYPICFEATURE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	has_symptom
+874423a87418c74711d27e1b7e357f5eb40bc387	Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by @PHENOTYPICFEATURE$, @DISEASE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+8164a890035ccf657d7db7edc0e2833f883e9154	@DISEASE$ (HPMRS), an autosomal-recessive form of intellectual disability characterized by @PHENOTYPICFEATURE$, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+df5660c917e0290e56c7ef2373fbcb2e0e742917	@DISEASE$ (HPMRS), an autosomal-recessive form of @PHENOTYPICFEATURE$ characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+ddc1c84ea4fe65842e517d4bd27f07cf143dd2dc	Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of @PHENOTYPICFEATURE$ characterized by facial dysmorphism, @DISEASE$, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.	false
+63ccb0992649aa43e186076e66d9b79214fd41bc	Phenotypic variability in hyperphosphatasia with @PHENOTYPICFEATURE$ and neurologic deficit (@DISEASE$).	has_symptom
+dbbd762e411b962ef7bb3fb595f595308dd7bf6d	However, she also had @PHENOTYPICFEATURE$; confirmed by slit-lamp examination, which led to the diagnosis of @DISEASE$.	has_symptom
+a13a15337dd1769d1596cd8ba4c6a533beca72e2	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth.	has_symptom
+a87f86b0a9e23e1910a3ced6780c82cdd3846a7b	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, @DISEASE$, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	false
+6ed61fcfb4c70f582bbc3a277daaadf4fa061f0e	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	false
+311fbd7a55a1326de6955d9d26d9632a23b964b1	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @DISEASE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	false
+a480451fdcd0f80f3c013a6f32532d4aa42cc142	@DISEASE$ (DMC) is an autosomal recessive condition characterised by @PHENOTYPICFEATURE$, scoliosis, microcephaly, coarse facies, mental retardation, and characteristic radiological features.	has_symptom
+3fbf8f8c25a3cc94e9b1d24b463711cef42f6087	@DISEASE$ (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies, @PHENOTYPICFEATURE$, and characteristic radiological features.	false
+d77d811c24f7194a66f56ae45fe5267f072d1de7	@DISEASE$ (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, @PHENOTYPICFEATURE$, coarse facies, mental retardation, and characteristic radiological features.	false
+ecb4dac0c8857a049228aad2a0737ee3a8b7e1a4	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, @DISEASE$, @PHENOTYPICFEATURE$, coarse facies, mental retardation, and characteristic radiological features.	false
+0c643f70e7be755dd202b5edad412583ae59a105	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by @DISEASE$, scoliosis, @PHENOTYPICFEATURE$, coarse facies, mental retardation, and characteristic radiological features.	false
+23aa49c67aeb5b74602ab533127817abd2386221	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, @DISEASE$, microcephaly, coarse facies, @PHENOTYPICFEATURE$, and characteristic radiological features.	false
+71d1485d8ff9e6176fd0a80f9baacdcd9221eae0	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by @DISEASE$, scoliosis, microcephaly, coarse facies, @PHENOTYPICFEATURE$, and characteristic radiological features.	false
+d3ec72beac118461277c0a03bd133a6e52ec41b7	A six year old girl is presented, who shows a @PHENOTYPICFEATURE$, is mentally retarded, lacks excretion of mucopolysaccharides in urine and has very severe generalized oseous alterations which corresponds to the characteristics of the @DISEASE$.	has_symptom
+5925acbe84d9e72ce5c807bcc382e6e5ce4be2f4	A six year old girl is presented, who shows a short trunk dwarfism, is @PHENOTYPICFEATURE$, lacks excretion of mucopolysaccharides in urine and has very severe generalized oseous alterations which corresponds to the characteristics of the @DISEASE$.	false
+4918920b76f5d0e875ac8fd3a7afae4a1c1f7cc2	A six year old girl is presented, who shows a @DISEASE$, is @PHENOTYPICFEATURE$, lacks excretion of mucopolysaccharides in urine and has very severe generalized oseous alterations which corresponds to the characteristics of the Dyggve-Melchior-Clausen syndrome.	false
+6537bd36dad2a123b469bc9be693cfa310ea2e80	We report a case of @DISEASE$, a skeletal dysplasia with @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+5d2883db98ee151b09374a400e32f1118ffb1cee	We report a case of Dyggve-Melchior-Clausen syndrome, a skeletal dysplasia with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ecc35b9325858c295a27781a6137a0fdd4abd6c8	We report a case of Dyggve-Melchior-Clausen syndrome, a @PHENOTYPICFEATURE$ with @DISEASE$ and mental retardation.	false
+98796ae3bd83340786570f45ef3b153f6676cfba	We report a case of @DISEASE$, a @PHENOTYPICFEATURE$ with short trunk dwarfism and mental retardation.	false
+ae826f62510cb782c008d98e211d2961e323300c	We report a case of @DISEASE$, a skeletal dysplasia with short trunk dwarfism and @PHENOTYPICFEATURE$.	false
+2498e345f4c415faa09edc6fe5a00523c87db9d8	An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and @PHENOTYPICFEATURE$ is presented as an example of the @DISEASE$.	has_symptom
+c3b4d4c75d379a52b2849a798ce1f6462089d6ea	An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, @PHENOTYPICFEATURE$, and @DISEASE$ is presented as an example of the Johanson-Blizzard syndrome.	false
+12d977dd46ed622be3fd83692d8da56d8151da2a	An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, @PHENOTYPICFEATURE$, and mental retardation is presented as an example of the @DISEASE$.	false
+7defa839f7b9449c38193eaa05efcaf820d0f6e5	Two brothers showed hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with @DISEASE$.	has_symptom
+ce9d4484e5c6c20a2ebb3ce8c8f87334fe452b11	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, @PHENOTYPICFEATURE$, scalp defects, hypothyroidism and imperforate anus.	has_symptom
+ca4493f9a09475ea336adbf46551c1167af61739	@DISEASE$ (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, @PHENOTYPICFEATURE$, scalp defects, hypothyroidism and imperforate anus.	has_symptom
+849db7914b4aaa8e67f96a0bdea3c5f318e563e8	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, hearing loss, @DISEASE$, scalp defects, hypothyroidism and imperforate anus.	false
+0de155256227866310ba768bf2de1f1425f33ad4	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.	false
+cb5e83094ca96179cc0e32a556112d5966cc05df	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably @DISEASE$, oligodontia, @PHENOTYPICFEATURE$, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.	false
+581e2c1bb7bea82cccfa3d141876e3e9d7aa98c0	@DISEASE$ (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.	false
+180d3bf00159f12457b2fae40c73cc8fccc347de	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, scalp defects, hypothyroidism and imperforate anus.	false
+72a508adb5181a24f08581a8874faa9fac6d91e0	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, hearing loss, mental retardation, scalp defects, @DISEASE$ and imperforate anus.	false
+418add33a6f9d82e023535708a8af034697a9145	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	has_symptom
+e00f22fa74a73dafab7b34718be26d93f29acc6a	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	has_symptom
+7ab810d6326ffa0f46d0bac821ef5b6df1cf88cb	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, @DISEASE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+1649a4d865252e95f96f1413ac20a97054650ca3	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by @DISEASE$, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+72c9ef24c94f195f67a870d8f2ef0f4cc852169e	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @DISEASE$, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+e9b7860db882bd2791d676b5d85add3dc7d1c063	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+7311f1282f903559f0f2813b330b76c0c744cbf4	Johanson-Blizzard syndrome (JBS) is a rare @DISEASE$ characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+eb15d24271f70b9d0e2a8fa6606bb7d45054380d	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+22463098245e353b13abcd30d24ec47572ce9c43	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by @DISEASE$, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+be817dbe39afc01a2af714cd66b6923f659716f7	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+86f70929cc585c702b64446065e4c09f980150f6	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+1e2a550fdf60c68ea678b2bd984b1c6c5e7590b1	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+24674a8b7b0c96be425c82bd3ea8a729ebcf24da	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, @DISEASE$, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+999185b8476d6a34ab841564eeafcbfe20b61969	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, @DISEASE$, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+5d3fd73265c89988413f51155288100771e23a85	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+397f9648dbba9e263d5bfeb5cf3d68e8d0dc937f	Johanson-Blizzard syndrome (JBS) is a rare @DISEASE$ characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+a42ac1a4e60c5f45b1ff3f1f05629742bca0007a	Johanson-Blizzard Syndrome (@DISEASE$) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of @PHENOTYPICFEATURE$.	has_symptom
+17d60dccb388b4c7b85b0bb0004869c9efbcbfc8	@DISEASE$ (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of @PHENOTYPICFEATURE$.	has_symptom
+fd1298bafa8431b753ca54c9574ddd3a6c3e46c4	Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive @DISEASE$ characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ appearance and varying degrees of mental retardation.	false
+5a708c2abd357088d4291769c47bc27008a48f32	@DISEASE$ (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ appearance and varying degrees of mental retardation.	false
+40eba4452ad81d719137a13e50e37586ba6b052a	Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ appearance and varying degrees of mental retardation.	false
+2a5c14694f2fb51fb518750d3428bcfe0f459194	Johanson-Blizzard Syndrome (@DISEASE$) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ appearance and varying degrees of mental retardation.	false
+ea8fd333eedf9ad736914d750aea04fed96a526b	Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ appearance and varying degrees of @DISEASE$.	false
+c3176f6fa408c49cbfc82e1a3abf3ecce8a4547b	The somewhat mild phenotype (with no or slight @PHENOTYPICFEATURE$) in these two @DISEASE$ families might be explained by residual UBR1 activity.	has_symptom
+9a09abe5e536d9d7c98fa01f876c06c66077f030	We present a so far unrecognized X-linked @PHENOTYPICFEATURE$ syndrome with features overlapping with Joubert syndrome (@DISEASE$).	has_symptom
+6fd98d5c00122723acc50d76a627918cdff5f9ed	@DISEASE$ (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent @PHENOTYPICFEATURE$.	has_symptom
+bb8f2b1f64b5e18f0f60e93151b9466f9d84261d	@DISEASE$ (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of @PHENOTYPICFEATURE$, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	has_symptom
+0514d4ccaee345c8de9577e4aa59c74daffa605c	Johanson Blizzard syndrome (@DISEASE$) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of @PHENOTYPICFEATURE$, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	has_symptom
+83074536c7c8573fde0976b3629823759ff70c20	Johanson Blizzard syndrome (@DISEASE$) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, @PHENOTYPICFEATURE$, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+28cd9c7859a3f46fa58e9118831eea3c2d4c1a41	Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, @PHENOTYPICFEATURE$, varying degree of @DISEASE$, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+662ae1d48f25403a6d2df1ee63eaf1058ccc180e	@DISEASE$ (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, @PHENOTYPICFEATURE$, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+0fd181a3cb5aca2e2b65a96c4853cd785222e3fd	Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, @DISEASE$, @PHENOTYPICFEATURE$, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+2842fe3008ec8a2f36a5b949ec7fc12f1a84215d	Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, @DISEASE$, deafness, @PHENOTYPICFEATURE$, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+048edab08a3a6b0b89f4200e73e28dfefcf39c53	@DISEASE$ (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, @PHENOTYPICFEATURE$, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+267ab8d77d426e88c551b92a63f7f16c2008fa63	Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, @PHENOTYPICFEATURE$, growth retardation, varying degree of @DISEASE$, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+69b116933f5a4532ab01230bafb3b22d1697ffc3	Johanson Blizzard syndrome (@DISEASE$) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, @PHENOTYPICFEATURE$, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+d7061cbee8881d81b53f4983e5fd12715f684f37	Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, @DISEASE$, hypothyroidism, @PHENOTYPICFEATURE$, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+34687292b313f90badce150c3db969dd281c547b	Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, @DISEASE$, hypothyroidism, deafness, @PHENOTYPICFEATURE$, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+fa66d59a8b4feb4a2272271deb12bc871f1072cf	Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+fb4598fe553a23b0b8ed0e97fc9c41ed9287b160	Ophthalmopathologic examination of the eyes revealed @PHENOTYPICFEATURE$ with anterior segment developmental anomalies, in particular sclerocornea and @DISEASE$, respectively.	has_symptom
+ff22fc10378fa281138f5639bb9cd5879e3f481b	In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with @PHENOTYPICFEATURE$, corneal clouding, cataracts, and @DISEASE$.	has_symptom
+a4a4d29641f1c44742672a66b9b594c655f896ea	In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with microphthalmia, corneal clouding, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+28e6fe34036410e80dfc7f65d8a1d2cbb98242e0	In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with @DISEASE$, corneal clouding, @PHENOTYPICFEATURE$, and Peters anomaly.	false
+bbd87e8f730b939476f1eba2419e3834891ff2f9	Developmental eye diseases, including cataract/microcornea, @DISEASE$ and coloboma/@PHENOTYPICFEATURE$/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	has_symptom
+cbf6d0ed1a43885bf757ad706b230601fe7ba2f2	Developmental eye diseases, including cataract/microcornea, Peters anomaly and coloboma/@DISEASE$/@PHENOTYPICFEATURE$, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+66a983a6a1dce914bcf476e16ebf5cfbf12fb1a6	Developmental @DISEASE$, including cataract/microcornea, Peters anomaly and coloboma/microphthalmia/@PHENOTYPICFEATURE$, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+d9b0d3eda6e6258755a4ef9d854ee5c353e239ac	Developmental eye diseases, including @PHENOTYPICFEATURE$/microcornea, @DISEASE$ and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+fe0fdbb0f4fc5a2b18bdfa30fea5eb2293bbd176	Developmental eye diseases, including cataract/microcornea, @DISEASE$ and coloboma/microphthalmia/@PHENOTYPICFEATURE$, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+9c74c4d28b812801e869c7efd4b3dc56eb717223	Developmental @DISEASE$, including @PHENOTYPICFEATURE$/microcornea, Peters anomaly and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+520d89e47f0bce9ad90c1cc25e81cecf53b9e345	Developmental eye diseases, including @PHENOTYPICFEATURE$/microcornea, Peters anomaly and coloboma/@DISEASE$/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+cadf83ce5c06b2a21e5d95b839cad3a4cd64cb73	Sox11-deficient mice show a persistent lens stalk, a delay in lens formation, and the phenotypes of @DISEASE$ and @PHENOTYPICFEATURE$ at birth.	has_symptom
+0727ffd486a71d7e7c8db08d79fce390313841e1	In support of these hypotheses, three RBPs and RNP/RNA granule components Tdrd7, Caprin2, and Stau2 are linked to ocular developmental defects such as congenital cataract, @DISEASE$, and @PHENOTYPICFEATURE$ in human patients or animal models.	has_symptom
+abd1b66fecf354363bac07f9afa8887db777adce	Malformed fetuses displayed a range of ocular defects that included @PHENOTYPICFEATURE$ and keratolenticular dysgenesis (@DISEASE$).	has_symptom
+e1b4e0448ad82a5ebc03c980bafe1662c57de1a2	A 2-day-old girl, born at term with a birth weight of 3,350 g was diagnosed with @DISEASE$, cataract, @PHENOTYPICFEATURE$, PHPV, and MGS.	has_symptom
+c8c691421b498afa9ba191688058bfb3be9c3ce6	A 2-day-old girl, born at term with a birth weight of 3,350 g was diagnosed with @DISEASE$, @PHENOTYPICFEATURE$, microphthalmia, PHPV, and MGS.	false
+30c15724b8bcad9aada88f6a813eaa9e5c934f87	A 2-day-old girl, born at term with a birth weight of 3,350 g was diagnosed with Peters' anomaly, @PHENOTYPICFEATURE$, @DISEASE$, PHPV, and MGS.	false
+c96ee6501474b47ed1d06ab40dcbcdecd33e754d	Ocular abnormalities include cataract, @PHENOTYPICFEATURE$, buphthalmos, and @DISEASE$.	has_symptom
+70357e14b3a761438e2bab93317d0f89105cf7a6	Ocular abnormalities include @PHENOTYPICFEATURE$, microphthalmia, buphthalmos, and @DISEASE$.	false
+0865ff35f33bee8a13ce19e85619361bf4460916	Ocular abnormalities include @PHENOTYPICFEATURE$, @DISEASE$, buphthalmos, and Peters anomaly.	false
+fb834005f29d8cc2e22403bb780aa1bdf9b78f8d	Our present study observed the morphologic changes in conventional Msx2 knockout (KO) mice and found phenotypes consistent with @DISEASE$ and @PHENOTYPICFEATURE$ seen in humans.	has_symptom
+8340b54fc55e45626661ece5e11634cc8c2bb6e5	The most common primary cause of congenital corneal abnormalities was @DISEASE$ (40.3%), followed by sclerocornea (18.1%), dermoid (15.3%), congenital glaucoma (6.9%), @PHENOTYPICFEATURE$ (4.2%), birth trauma, and metabolic disease (2.8%).	has_symptom
+518574b71a90b2d2d6a006352b7538ac3c67b53d	@DISEASE$ (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb @PHENOTYPICFEATURE$ and distichiasis.	has_symptom
+b9ab2f6dfc369a74026aee65106e4f8a8cda5929	Mutations in PTEN have been identified in different clinical disorders such as Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome, @DISEASE$, and autism spectrum disorders with @PHENOTYPICFEATURE$ (Hobert).	has_symptom
+212a80ad7b206b54d5657794f3ae02cef26beba7	Originally shown to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and endometrial cancers, and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by lipomatosis, @PHENOTYPICFEATURE$, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to include Proteus syndrome and @DISEASE$.	has_symptom
+6542b58bc89add37e497e9373b4965485b03a263	Clinical, biochemical and therapeutical aspects of amiodarone-induced hypothyroidism (@DISEASE$) in geriatric patients with @PHENOTYPICFEATURE$.	has_symptom
+eddfe2e1406ecb78848d8ee00d4448a6e93fb74c	Here, we report a patient, who was initially diagnosed with @DISEASE$ based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, @PHENOTYPICFEATURE$, vision problems and conductive hearing impairment.	has_symptom
+bed3e73593798c8080d991aeb68e932cccf2e046	Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, vision problems and conductive hearing impairment.	false
+cc0b466a9c039955e6523cdb5af6c9504884dc9a	Here, we report a patient, who was initially diagnosed with @DISEASE$ based on the spectrum of inner organ malformations like choanal hypoplasia, @PHENOTYPICFEATURE$, anal atresia, vision problems and conductive hearing impairment.	false
+4f5b01a14c2eda93304a525056a5678d68aac665	Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, @DISEASE$, vision problems and @PHENOTYPICFEATURE$.	false
+0ed02decd365f6f7f47ea3d54866e0244449f4f5	Here, we report a patient, who was initially diagnosed with @DISEASE$ based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and @PHENOTYPICFEATURE$.	false
+cbfeda728e4b23ead1c67acb039b2dbe54164c8c	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, @PHENOTYPICFEATURE$ and panhypopituitarism, showing considerable phenotypic overlap with @DISEASE$.	has_symptom
+0e26c538dee217497eb7be6335bded1f7b03aa86	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, @DISEASE$ and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+88cb8ea52abb12df26c5027d1dc0a16bd18c31c0	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with @DISEASE$.	false
+99e058ba41acfc23b0dabef8ff1c1048c923fee6	We describe a case of @DISEASE$ presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+e48ca3d6156b71b599a034746cb1a1b351b75053	@DISEASE$ (dRTA) is characterized by a reduced ability to acidify urine, variable hyperchloremic @PHENOTYPICFEATURE$ metabolic acidosis, nephrocalcinosis, and nephrolithiasis.	has_symptom
+fc68e82d802f62112ee679e214cfcdd4552c46ff	@DISEASE$ (dRTA) is characterized by a reduced ability to acidify urine, variable hyperchloremic hypokalemic @PHENOTYPICFEATURE$, nephrocalcinosis, and nephrolithiasis.	false
+50478065e2c4ee49d59ec128726ae0bc8a415156	Distal renal tubular acidosis (dRTA) is characterized by a reduced ability to acidify urine, variable hyperchloremic @DISEASE$ @PHENOTYPICFEATURE$, nephrocalcinosis, and nephrolithiasis.	false
+9b0cec9737beb3380d2699dff68d764033fcd0dd	Primary @DISEASE$ (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic @PHENOTYPICFEATURE$ metabolic acidosis, nephrocalcinosis, and nephrolithiasis.	has_symptom
+6e69312b42039337c04875dd4ea88c972f1e30d9	Primary @DISEASE$ (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic @PHENOTYPICFEATURE$, nephrocalcinosis, and nephrolithiasis.	false
+42255fa14d6112d3c0a01210876d4ed354726b09	Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic @DISEASE$ @PHENOTYPICFEATURE$, nephrocalcinosis, and nephrolithiasis.	false
+221d9a071d3f52987ed6e213327afe1cd87f16e0	It is most commonly idiopathic in origin but may be caused by @DISEASE$, @PHENOTYPICFEATURE$, bowel dysfunction, and a high-protein, low-alkali diet.	has_symptom
+10f589d87fd26036856a20cb734cb03ab950be0c	Tests of renal tubular function on the subcohort revealed a normal anion gap, hyperchloremic, metabolic acidosis of renal etiology, defective urinary acidification, and @PHENOTYPICFEATURE$ with kaliuresis, indicative of @DISEASE$ in six patients.	has_symptom
+c6b9eaa14dd66f4ff82c5b3c2ad52076a5f38856	SLC4A1 mutations can also cause type 1 @PHENOTYPICFEATURE$ @DISEASE$ (dRTA).	has_symptom
+d8b6d22ef81250131bde7c9294bc5d97072e89c7	Primary @DISEASE$ is a clinical disorder characterized by hyperchloremic metabolic acidosis, hypercalciuria, hypocitraturia, urinary acidification impairment, @PHENOTYPICFEATURE$, metabolic bone disease, and nephrocalcinosis.	has_symptom
+3f5b05f68395de098ab5fd5cfa9c812627ec6d8a	Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, @PHENOTYPICFEATURE$, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking @DISEASE$.	has_symptom
+0d16deddb04fd63fda22c9a46f6ff391a535474d	Furosemide increases urinary acidification in control subjects and in certain patients with normokalemic or @PHENOTYPICFEATURE$ @DISEASE$ (RTA).	has_symptom
+7d48a5b77d99abfe60ea82277306c50f36416dbb	While the etiology of hypocitraturia is idiopathic in most patients with kidney stones, there are a number of causes for this abnormality including @DISEASE$, @PHENOTYPICFEATURE$, diets rich in animal protein and / or diets low in alkali and certain drugs, such as acetazolamide, topiramate, ACE inhibitors and thiazides.	has_symptom
+e35ae11f14141859baaebbf1814b93211f0e403d	@DISEASE$ (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, @PHENOTYPICFEATURE$, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis.	has_symptom
+db3b5b89e3a07545cb16dfbef45f867fd342860a	@DISEASE$ (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, @PHENOTYPICFEATURE$, hypocitraturia, nephrocalcinosis and nephrolithiasis.	false
+c5d6d6bbd2906f36730ad60df32f7984f88a2a0c	Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic @DISEASE$, hypokalemia, @PHENOTYPICFEATURE$, hypocitraturia, nephrocalcinosis and nephrolithiasis.	false
+b18fa99af68098570afd1bf26fe15c027db8ec77	Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, @DISEASE$, @PHENOTYPICFEATURE$, hypocitraturia, nephrocalcinosis and nephrolithiasis.	false
+58a52d5b3728190ccdedbd8582de101e81730d7e	Successful ultrasound-assisted catheter-directed thrombolysis (USAT) with low-dose alteplase and argatroban in a patient with bilateral @PHENOTYPICFEATURE$ (PE) secondary to @DISEASE$ (HIT) is reported.	has_symptom
+3ae3e9fdd0c688c58624608b3a77e2ba8144eda9	An unusual case of bilateral @PHENOTYPICFEATURE$ in a patient on dual venous thromboprophylaxis, secondary to @DISEASE$.	has_symptom
+48183a2aef9d3111db35d74e57955283fa067e91	The purpose of this study is to give a precise estimate of short term complications like @PHENOTYPICFEATURE$, bleeding, @DISEASE$ (HIT) and death in a cohort of consecutive patients who were admitted because of acute symptomatic DVT, all treated by compression and walking exercises instead of conventional bed-rest and nearly all by low-molecular-weight heparin.	has_symptom
+6043f4f0e49b0b46869520736a84445746f82e11	As we learned from mutations of synaptic or synapse regulating genes, leading to monogenetic forms of @DISEASE$, the @PHENOTYPICFEATURE$ etiologies of ASD converge at the synapse.	has_symptom
+2c4349e2597ba5ec5740624480d8c46a03908a10	@DISEASE$ (WS2) is associated with syndromic @PHENOTYPICFEATURE$.	has_symptom
+33fb7ba79dc32f1e099d6c7b9cbd032087c9299a	To differentiate this syndrome against @DISEASE$ which is complicated by @PHENOTYPICFEATURE$ twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful.	has_symptom
+36c9a6079173d37465ba17865edc41c8128d8e4d	[Autopsy case of @DISEASE$ accompanied by @PHENOTYPICFEATURE$ and systemic angiomyolipoma].	has_symptom
+7e479bb4cad4beb8ca9d6a17a861d1b74befce45	Two cases of @DISEASE$ with different neurological fenotype, with bilateral renal angiomyolipomatosis and heavy @PHENOTYPICFEATURE$, are presented.	has_symptom
+936d65362ff9c285676e165a7caae3bc35b9471e	The cause of hypertension in this patient with @DISEASE$ appeared to be the result of volume expansion due to @PHENOTYPICFEATURE$.	has_symptom
+1b232409a88b38f149d0c263d2b5ef76b1b37a13	A patient with @DISEASE$ presented with @PHENOTYPICFEATURE$ secondary to bilateral angiomyolipoma.	has_symptom
+bc96829642a6c5733e1c8a0083ac9fc3dce53ace	We report a case of @PHENOTYPICFEATURE$ in a solitary kidney with manifestation of @DISEASE$, synchronous renal cell carcinoma and angiolipomatosis.	has_symptom
+b21d455c4a82dc2426d1481088bf23ce8bd6a565	The second successful kidney transplant in a patient with @DISEASE$ and @PHENOTYPICFEATURE$ is reported.	has_symptom
+70e5f6d4b7aad3d8b0284f1fb3e98fde06a9ce79	Hypertension and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+addc80c77475bd5501c53f6028bd288da7c05c07	Renal cysts are relatively common in @DISEASE$, occasionally causing severe cystic disease with @PHENOTYPICFEATURE$.	has_symptom
+958791418318c03f72f0c9d89d738c9e4dd6b77e	@PHENOTYPICFEATURE$ are relatively common in tuberous sclerosis, occasionally causing severe cystic disease with @DISEASE$.	false
+41d5bca837ae9816e4898d75ff51c6d24670c984	@PHENOTYPICFEATURE$ are relatively common in @DISEASE$, occasionally causing severe cystic disease with renal failure.	false
+e3fdbde3dced076eda1c911e0eb030e255cd80a8	@DISEASE$, associated with renal cell carcinoma and angiomyolipoma, in a patient who developed endstage @PHENOTYPICFEATURE$ after nephrectomy.	has_symptom
+f34009af2f8735758c48aa7546d34eb23ba84e34	@DISEASE$ (TSC) is caused by constitutively activated mammalian target of rapamycin (mTOR) resulting in nonmalignant tumours of several organs and consequently @PHENOTYPICFEATURE$.	has_symptom
+3d730095737ff3094a2efc6a165cf40499cd022a	@DISEASE$ (TSC) is caused by constitutively activated mammalian target of rapamycin (mTOR) resulting in nonmalignant @PHENOTYPICFEATURE$ of several organs and consequently renal failure.	false
+d56a035c3048c530c9a98427db780b2ab29c507e	Tuberous sclerosis complex (TSC) is caused by constitutively activated mammalian target of rapamycin (mTOR) resulting in nonmalignant @PHENOTYPICFEATURE$ of several organs and consequently @DISEASE$.	false
+d8e476025141c419d66cf2e85c46e82c90a571d5	Congenital @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7b2e28ca50e49de57da5d4eaaa5086ed36baa104	@DISEASE$ clinically presents with congenital @PHENOTYPICFEATURE$.	has_symptom
+c9f673c8230185f2ec70723020a7a4c92e21b83d	@DISEASE$, characterized by @PHENOTYPICFEATURE$ and cleft lip/ palate, presents with variable expressions.	has_symptom
+7b2e28ca50e49de57da5d4eaaa5086ed36baa104	@DISEASE$ clinically presents with congenital @PHENOTYPICFEATURE$.	has_symptom
+d165e6a5c24e61d619c26b9bc4165e38a8f032ac	The @DISEASE$ (dominantly inherited @PHENOTYPICFEATURE$ and clefts).	has_symptom
+652654921241fa75c7d886a329bbdcb6c300565f	@DISEASE$ (@PHENOTYPICFEATURE$-cleft lip syndrome).	has_symptom
+ec72c2537df6813cfc6a8de3b02838755229bc91	Retrospective investigation of the patients with these variants revealed the presence of @PHENOTYPICFEATURE$ in one of the patients with a de novo mutation suggesting a @DISEASE$ (VWS) phenotype, whereas, in other patients, no lip pits were identified.	has_symptom
+adc335b23adbf945d6cfab47efafc05f094e9775	Retrospective investigation of the patients with these variants revealed the presence of lip pits in one of the patients with a de novo mutation suggesting a Van der Woude syndrome (@DISEASE$) phenotype, whereas, in other patients, no @PHENOTYPICFEATURE$ were identified.	has_symptom
+41da61cb89f94292fc6515d570ac9c815d21a207	Retrospective investigation of the patients with these variants revealed the presence of lip pits in one of the patients with a de novo mutation suggesting a @DISEASE$ (VWS) phenotype, whereas, in other patients, no @PHENOTYPICFEATURE$ were identified.	has_symptom
+481267ce6cffa1d24b7a58dc41ca39dbfa3eeb06	Retrospective investigation of the patients with these variants revealed the presence of @PHENOTYPICFEATURE$ in one of the patients with a de novo mutation suggesting a Van der Woude syndrome (@DISEASE$) phenotype, whereas, in other patients, no lip pits were identified.	has_symptom
+cf4d7d945c04f1d32bae67c100d3ae74b958f428	@DISEASE$ (VWS) is a dominantly inherited disorder characterized by cleft lip with or without cleft palate and @PHENOTYPICFEATURE$.	has_symptom
+5669140c850bb560ce3fdf0f7aba245d569c40cf	Van der Woude syndrome (@DISEASE$) is a dominantly inherited disorder characterized by cleft lip with or without cleft palate and @PHENOTYPICFEATURE$.	has_symptom
+b5bc9f706ea774867d7fc5aa1ee0107229dd6549	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder manifested in cleft lip and/or palate and @PHENOTYPICFEATURE$.	has_symptom
+75c804256c6a8ac0319cf945f09072a7e106ef97	@DISEASE$ (VWS) is an autosomal dominant disorder manifested in cleft lip and/or palate and @PHENOTYPICFEATURE$.	has_symptom
+2b92638cf3e9b5188df6be0e4b17468dab343c0d	Van der Woude syndrome (@DISEASE$) is a rare autosomal dominant genetic disorder characterized by orofacial clefting and @PHENOTYPICFEATURE$.	has_symptom
+291852dc3aa9f01bac186966fabd072283cac47a	@DISEASE$ (VWS) is a rare autosomal dominant genetic disorder characterized by orofacial clefting and @PHENOTYPICFEATURE$.	has_symptom
+a66364477c75727c1d41d3048101faa8c67945a0	The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the @DISEASE$ profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by @PHENOTYPICFEATURE$ and normal intelligence.	has_symptom
+2d7dbfb0b7c66d154a98839a6ba35a3f127d091e	The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical @DISEASE$ phenotype characterized by @PHENOTYPICFEATURE$ and normal intelligence.	has_symptom
+7d39ccad95c228afbe43c747d2cda6232ccb9e5a	The girls had some unusual features--@PHENOTYPICFEATURE$ and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical @DISEASE$ phenotype characterized by macrocephaly and normal intelligence.	false
+8a19e18bdadcc5e7a844a3c1095b047e6fd858ba	The girls had some unusual features--@PHENOTYPICFEATURE$ and psychomotor retardation--that distinguish the @DISEASE$ profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence.	false
+5e169f20df7a533c96fdfec1c94ed66925adc0b5	The girls had some unusual features--@PHENOTYPICFEATURE$ and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by @DISEASE$ and normal intelligence.	false
+8a8a0f2cf52e3a786271f29fb2fe9fe7c80e8dc8	To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with @DISEASE$ (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, @PHENOTYPICFEATURE$, and postnatal (rather than prenatal) growth retardation.(1,3)	has_symptom
+c7090bad06335370594a28bbe4b0b2dee0e730ea	To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with @DISEASE$ (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) @PHENOTYPICFEATURE$.(1,3)	false
+b92ac83055fc242144f499fd214a34ac3e02df89	To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, @DISEASE$, and postnatal (rather than prenatal) @PHENOTYPICFEATURE$.(1,3)	false
+28c9a1540c77dadded25987d99c0fe985341d700	In general, the majority of patients with @DISEASE$ come to medical attention during infancy or early school years with symptoms such as learning disabilities, changes in cognitive development, @PHENOTYPICFEATURE$, or liver dysfunction.	has_symptom
+a779eccef2646af08e27aa00ee1e249836a66886	@PHENOTYPICFEATURE$ was most severe in children with @DISEASE$ and correlated with chronicity of the disease.	has_symptom
+6ed61fcfb4c70f582bbc3a277daaadf4fa061f0e	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	has_symptom
+30b7a82bcfac7404cf322a94c56d0cfced826233	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @DISEASE$ and stunted growth.	false
+a13a15337dd1769d1596cd8ba4c6a533beca72e2	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth.	false
+dd4a39bbe75dd0e6e9cd10606103de459829681c	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, @DISEASE$, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth.	false
+7ebe0593b60f5196b6ea2cdf2429aeb9289868da	An 11-year-old boy had @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3984e8885ea8abf07327d455aaf30546d1bcb494	The classic triad includes candidiasis, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+00cb91a07f5bb6530a31a294006c71641d543d29	Keratopathy associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5a298c0b27754b67946dd8243a0a994e4f38335c	Candidiasis, vitiligo, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+259b4a58c18f32910cbda640553c294870712166	Idiopathic @PHENOTYPICFEATURE$ and @DISEASE$ without moniliasis.	has_symptom
+471696f9d03064dc41744638c753134b780f5e69	Idiopathic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0db3001801c36186bd22a9eb690fa0e2ae94f84f	Chronic candidiasis of the nails, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+cba0245fa2cc915456bd30ac4100e9f3f82ea8b7	Its major components include mucocutaneous candidiasis, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+1cc2c9c192a40c9b662fba70eef26457e0d1d26f	Typical manifestations include candidiasis, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+70e4b9cc67aadcc8e97bd4ce02ca9266bf889859	The syndrome of chronic @PHENOTYPICFEATURE$, @DISEASE$ and superficial moniliasis.	has_symptom
+6a4c6061abf70bde01ee77f6e3af0d60bca467f7	All patients displayed perinatal or early-onset cardiomyopathy and @PHENOTYPICFEATURE$, clinical features pathognomonic for @DISEASE$.	has_symptom
+81d7a3aa4d1c643f43ca2a6fc84169ae446c2a19	Mutations in mitochondrial acylglycerol kinase (AGK) cause @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, and skeletal myopathy.	has_symptom
+662786c3f28f1742c446726c518a87d3b7b5eb80	@DISEASE$ (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, @PHENOTYPICFEATURE$, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1.	has_symptom
+dda4d1f2c2bf9d204ae70ac709f98370c038d42f	Lamb-Shaffer syndrome (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate @PHENOTYPICFEATURE$, @DISEASE$, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1.	false
+07d6d9c0caf0de915f83bfe722b0e20e20203ad6	@DISEASE$ (OMIM: 616803) is a neurodevelopmental disorder characterized by developmental delay, mild to moderate @PHENOTYPICFEATURE$, speech delay, and mild characteristic facial appearance caused by SOX5 haploinsufficiency on chromosome 12p12.1.	false
+2e6443e988a3bf988e12441c47d1233a411d8ce1	@PHENOTYPICFEATURE$ and mild cognitive impairment in patients with @DISEASE$.	has_symptom
+c35e61333eedaaeba18c7cd588e8f3ff103640dc	@DISEASE$ and mild @PHENOTYPICFEATURE$ in patients with Parkinson's disease.	false
+155b49bfac244c2c6b9420ca1c6b767eb1d2861f	Dementia and mild @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e171f56fdb077186a7d486cc10eb4e7d54c074d5	@PHENOTYPICFEATURE$ and mild cognitive impairment in @DISEASE$.	has_symptom
+2d999c8cc1130401ea82e7b8716ec9f37189d2e9	Dementia and mild @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1a93fbb9a6bc8b6860b67e8c3b86c7278b63cf07	@DISEASE$ and mild @PHENOTYPICFEATURE$ in Parkinson's disease.	false
+e171f56fdb077186a7d486cc10eb4e7d54c074d5	@PHENOTYPICFEATURE$ and mild cognitive impairment in @DISEASE$.	has_symptom
+2d999c8cc1130401ea82e7b8716ec9f37189d2e9	Dementia and mild @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1a93fbb9a6bc8b6860b67e8c3b86c7278b63cf07	@DISEASE$ and mild @PHENOTYPICFEATURE$ in Parkinson's disease.	false
+2e6443e988a3bf988e12441c47d1233a411d8ce1	@PHENOTYPICFEATURE$ and mild cognitive impairment in patients with @DISEASE$.	has_symptom
+c35e61333eedaaeba18c7cd588e8f3ff103640dc	@DISEASE$ and mild @PHENOTYPICFEATURE$ in patients with Parkinson's disease.	false
+155b49bfac244c2c6b9420ca1c6b767eb1d2861f	Dementia and mild @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+9f848f0f3db0004b30481d17b738ee783b006be1	@PHENOTYPICFEATURE$ and survival in @DISEASE$: a 12-year population study.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5a9038e07b0fd790a0a4ea15c4df55af0e3073de	@PHENOTYPICFEATURE$ and @DISEASE$ associated with diffuse cortical Lewy bodies.	has_symptom
+d615c1803f0a0f8e4c1ba1df67fbfa34a11eefc5	@PHENOTYPICFEATURE$ and @DISEASE$ are incurable neurological conditions.	has_symptom
+80959230e23341567ffe628260db478524a73702	@PHENOTYPICFEATURE$ and cognitive impairment in @DISEASE$.	has_symptom
+1d7c9099d1a98f5ba75f9b4537f3026bff53f92d	@PHENOTYPICFEATURE$ and @DISEASE$: no thank you!	has_symptom
+bd5aaf77b9e8311772b65811e38db6e4162f6704	ALND is associated with early-onset @PHENOTYPICFEATURE$, and RLNR is associated with @DISEASE$.	has_symptom
+114c3ea21220ab1051e4a2a96a8562b5b7704ca0	Arachidonic acid (AA) prevents neural tube/defects, @PHENOTYPICFEATURE$, and micrognathia in the rat models of @DISEASE$ and neural tube defects in the mouse embryo culture model.	has_symptom
+bbbb1825dd789a8cf28a233900b85ea3dae28280	Arachidonic acid (AA) prevents neural tube/defects, @DISEASE$, and @PHENOTYPICFEATURE$ in the rat models of diabetic embryopathy and neural tube defects in the mouse embryo culture model.	false
+cdcf4ff766ee8cc9e9c60abb584a1c32c1006d39	Arachidonic acid (AA) prevents neural tube/defects, cleft palate, and @PHENOTYPICFEATURE$ in the rat models of diabetic embryopathy and @DISEASE$ in the mouse embryo culture model.	false
+b8d85cc8f1c2d0165a633d2d1468552f3b8b99f8	Arachidonic acid (AA) prevents neural tube/defects, cleft palate, and @PHENOTYPICFEATURE$ in the rat models of @DISEASE$ and neural tube defects in the mouse embryo culture model.	false
+eef6f047d29c72c41959c7baf8ea6a4cb3ba7043	@DISEASE$ is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy.	has_symptom
+4f1556281a477d5623a0317b5cd7a17c398e716d	Arts syndrome is an X-linked disorder characterized by @DISEASE$, early-onset hypotonia, ataxia, delayed motor development, @PHENOTYPICFEATURE$, and optic atrophy.	false
+6718e669a27194ed65d21bc9732fdabf0962ef78	Arts syndrome is an X-linked disorder characterized by @DISEASE$, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, hearing impairment, and optic atrophy.	false
+d85efc2ba9835fea1e1291cdfd4283d2b59317fe	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, hearing impairment, and optic atrophy.	false
+47def351ba80000cc4a8fec91d361a5e2b2a9ffb	Arts syndrome is an X-linked disorder characterized by @DISEASE$, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and @PHENOTYPICFEATURE$.	false
+71786380a8b576713de5c3eb5d00940a9c2cbf10	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and @PHENOTYPICFEATURE$.	false
+b43b1110eeb969ab9fc92f620689711c0a0fc682	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, @PHENOTYPICFEATURE$, and optic atrophy.	false
+a7c066e2c39e249bf3e9acb109f5fe1a8bf3d74b	In our patient, there was a combination of bilateral retinitis pigmentosa, cataracts, nephronophthisis, osteomalacia, growth and @PHENOTYPICFEATURE$, @DISEASE$ hypertension, and aortic insufficiency.	has_symptom
+a519b3ed8790a8eba911ea29672e6fc90bb17529	In our patient, there was a combination of bilateral @DISEASE$, @PHENOTYPICFEATURE$, nephronophthisis, osteomalacia, growth and mental retardation, arterial hypertension, and aortic insufficiency.	false
+4d3868e5c30214c29afb2d96ac612ea497b18191	In our patient, there was a combination of bilateral retinitis pigmentosa, @PHENOTYPICFEATURE$, nephronophthisis, osteomalacia, growth and @DISEASE$, arterial hypertension, and aortic insufficiency.	false
+ab2f2825c52a99b443bc715bb0e8c9645dde4d03	In our patient, there was a combination of bilateral retinitis pigmentosa, @PHENOTYPICFEATURE$, nephronophthisis, osteomalacia, growth and mental retardation, @DISEASE$ hypertension, and aortic insufficiency.	false
+1abf03e04c91324c137fa8a010e3512482c0df56	@DISEASE$ is characterized by early-onset hypotonia, ataxia, @PHENOTYPICFEATURE$, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	has_symptom
+9864786794be95c20b03d55be1646a6c1ed3cebb	@DISEASE$ is characterized by early-onset hypotonia, ataxia, intellectual disability, @PHENOTYPICFEATURE$, progressive optic atrophy, and a tendency to develop infections.	false
+3072a8fb1e82a9fee9d2c54c1dfc8efa35721b06	Arts syndrome is characterized by early-onset hypotonia, ataxia, @DISEASE$, sensorineural hearing impairment, progressive @PHENOTYPICFEATURE$, and a tendency to develop infections.	false
+f6012ccf389188f3dcd04f0da907d33953ae956f	Arts syndrome is characterized by early-onset hypotonia, ataxia, @DISEASE$, @PHENOTYPICFEATURE$, progressive optic atrophy, and a tendency to develop infections.	false
+e9a6e55e92994d199fd9c176a115c695a464dcb1	@DISEASE$ is characterized by early-onset hypotonia, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	false
+5f00c75735aee4b23543aeb88cfba6e63de4d044	Arts syndrome is characterized by early-onset hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	false
+36a86a30f42a7fa0b0555517c6b30fe3560fa8d9	@DISEASE$ is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive @PHENOTYPICFEATURE$, and a tendency to develop infections.	false
+092ebc117455c931a509dbd3744c32c2830eb7fd	The following factors were found to increase the incidence of problems in the postoperative period: a non-idiopathic type of scoliosis, @PHENOTYPICFEATURE$, anterior spinal fusion procedures, age of 20 or more years, a relative @DISEASE$ hypoxemia and an obstructive component to the PFT's.	has_symptom
+5e2d1b4ec0b4bcb007e3c7e0842aaf0ec73ada1a	Thus, together with previous observations showing a high incidence of PVLO in patients with @DISEASE$ or familial @PHENOTYPICFEATURE$ rickets/osteomalacia, the present results suggest that the defect in the action of 1,25(OH)2D may underlie the development of PVLO.	false
+98b4a98400a694c81e4b36578773530b3dbde31e	Thus, together with previous observations showing a high incidence of PVLO in patients with hypoparathyroidism or familial @PHENOTYPICFEATURE$ rickets/@DISEASE$, the present results suggest that the defect in the action of 1,25(OH)2D may underlie the development of PVLO.	false
+cc0a554b5a753973f8a55778c77a511170b60922	Thus, together with previous observations showing a high incidence of PVLO in patients with hypoparathyroidism or familial @PHENOTYPICFEATURE$ @DISEASE$/osteomalacia, the present results suggest that the defect in the action of 1,25(OH)2D may underlie the development of PVLO.	false
+129de3f0f426d45e63f9239b36802e35215658ef	Left ventricular non-compaction is a rare @DISEASE$ with clinical features of @PHENOTYPICFEATURE$, systemic thromboembolic events and arrhythmias.	has_symptom
+82b9c5af5d0b8a19ee3ed68e500ef81d541f15d7	A case of @DISEASE$ with acute @PHENOTYPICFEATURE$.	has_symptom
+5e22e2697896c329989dd7221a822792bb8aeca1	He later developed progressive @PHENOTYPICFEATURE$ which was attributed to some obscure form of @DISEASE$.	has_symptom
+915b08e54fe10f7c549a84a6b4073ece602e6e66	Noncompaction cardiomyopathy is a recently described rare @DISEASE$; patients can be asymptomatic or develop diastolic and/or systolic left ventricular dysfunction with @PHENOTYPICFEATURE$, systemic emboli or ventricular arrhythmias.	has_symptom
+4a50b1e6378cd5e6f4cc59ee644e0874497b1da3	Noncompaction cardiomyopathy is a recently described rare @DISEASE$; patients can be asymptomatic or develop diastolic and/or systolic left ventricular dysfunction with heart failure, systemic emboli or @PHENOTYPICFEATURE$.	false
+a821527774b15a19b488a04ac5d4a6337df61078	Noncompaction @DISEASE$ is a recently described rare congenital cardiomyopathy; patients can be asymptomatic or develop diastolic and/or systolic left ventricular dysfunction with heart failure, systemic emboli or @PHENOTYPICFEATURE$.	false
+de484193860e0023e1b1da978b8b88b14ddee15c	Noncompaction cardiomyopathy is a recently described rare congenital cardiomyopathy; patients can be asymptomatic or develop diastolic and/or systolic left ventricular dysfunction with @DISEASE$, systemic emboli or @PHENOTYPICFEATURE$.	false
+e2c4bd7e2b4517439e765cc34e49178f3db0637c	[A rare cause of sudden @PHENOTYPICFEATURE$: @DISEASE$].	has_symptom
+c18f74eb2db09a07df3a098fa2ca0222acefdccf	Left ventricular non-compaction (LVNC) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, arrhythmia, and embolic events.	has_symptom
+a20d4372133a92031d94d5d3a58ed0081a8addb2	Left ventricular non-compaction (LVNC) is a rare congenital cardiomyopathy characterized by @DISEASE$, @PHENOTYPICFEATURE$, and embolic events.	false
+72db66ff376de02e07aaf68853b2d2c7d337a21b	Left ventricular non-compaction (LVNC) is a rare @DISEASE$ characterized by heart failure, @PHENOTYPICFEATURE$, and embolic events.	false
+b14f04f5180e651547a1584a5c2eebd685603f55	Left ventricular noncompaction (LVNC) is a rare, @DISEASE$ and can be associated with @PHENOTYPICFEATURE$, embolic events, arrhythmias, and sudden cardiac death.	has_symptom
+1c790f3dd2c438376a243b5a1984dfbab17cc63f	Left ventricle non-compaction (LVNC) or persistence of spongy myocardium is a rare form of @DISEASE$ which presents with @PHENOTYPICFEATURE$, thromboembolic events, arrhythmia and sudden death.	has_symptom
+28f87a64ab98e8e1b2a3838aaaa3777379042fe5	Left ventricle non-compaction (LVNC) or persistence of spongy myocardium is a rare form of @DISEASE$ which presents with cardiac failure, thromboembolic events, @PHENOTYPICFEATURE$ and sudden death.	false
+757112ae453df7a7b724c3a2b30f40ac32d0962c	Left ventricle non-compaction (LVNC) or persistence of spongy myocardium is a rare form of congenital cardiomyopathy which presents with @DISEASE$, thromboembolic events, @PHENOTYPICFEATURE$ and sudden death.	false
+08dfd5cadba6800ee521b204208179bfa1e4868d	Cardiac resynchronization therapy (CRT) has proven salutary effects in patients with @PHENOTYPICFEATURE$, systolic dysfunction, and electromechanical dyssynchrony in the setting of ischemic, nonischemic, and @DISEASE$.	has_symptom
+ecdf93086b876ed85c00ed1e406b9b94baaeb45b	@DISEASE$ (TTC) occasionally causes fatal cardiac conditions including life-threatening @PHENOTYPICFEATURE$.	has_symptom
+5715f7faffda20e9473b7ef48275dc36b7cf1012	Incidence, Characteristics, Risk Factors, and Outcomes of @DISEASE$ With and Without @PHENOTYPICFEATURE$.	has_symptom
+329ebffbf73e078db4b1ed346fc6648efb0b08c6	@DISEASE$ is now a well-recognized cause of acute heart failure, lethal @PHENOTYPICFEATURE$, and ventricular rupture.	has_symptom
+425d126172ee4c045969b6ae9b2a230e65ec9d5d	Stress cardiomyopathy is now a well-recognized cause of acute @PHENOTYPICFEATURE$, lethal @DISEASE$, and ventricular rupture.	false
+75a36a8f344b723b94e55593c5594d86c5de734f	@DISEASE$ is now a well-recognized cause of acute @PHENOTYPICFEATURE$, lethal ventricular arrhythmias, and ventricular rupture.	false
+3431f35afde909364b83cd39674b7b26d08f468b	Descriptions of @DISEASE$ in association with eating disorders are often of higher severity and related to QT prolongation because of electrolyte abnormalities, @PHENOTYPICFEATURE$ and hypoglycemia.	has_symptom
+9b4adc01bfd6a942eded36bedbb97fb5698fe4df	Descriptions of stress-cardiomyopathy in association with eating disorders are often of higher severity and related to QT prolongation because of electrolyte abnormalities, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9dde8517a2f2306ab6afe1d215d6b3fa2a277283	Descriptions of @DISEASE$ in association with eating disorders are often of higher severity and related to QT prolongation because of electrolyte abnormalities, ventricular arrhythmias and @PHENOTYPICFEATURE$.	false
+147038683f94d19e1b5dd4036f8a33fd670c97d9	Acquired long QT syndrome from @DISEASE$ is associated with @PHENOTYPICFEATURE$ and torsades de pointes.	has_symptom
+8740cab6e98726b542ddfe26f459ecd51f315764	Patterns of neuropsychological impairment in @DISEASE$ and mixed @PHENOTYPICFEATURE$.	has_symptom
+c5220e65e16b52975c5ad555aa1f83400bebf3ca	@PHENOTYPICFEATURE$ and @DISEASE$: resources in Oklahoma.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+79f5df50f9a20f4d5e39e73760fa0effd2bcdb0b	@PHENOTYPICFEATURE$ was diagnosed in 265 subjects, including 202 with @DISEASE$.	has_symptom
+05ccc6b42e5a006a1e319b99e534aabf8c5ab4c0	@PHENOTYPICFEATURE$ and @DISEASE$: a practical orientation.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7d4019147da3a2cb48906781cfec9ddce2c16933	[Differentiating between @DISEASE$ and vascular @PHENOTYPICFEATURE$?	has_symptom
+7302f41ce82261ed27ea699d3de6d5e0b95a41be	The differential diagnosis includes @DISEASE$ and mixed @PHENOTYPICFEATURE$.	has_symptom
+33015dfbee080725f4f8e0e592655f3c48fc667b	@PHENOTYPICFEATURE$ and @DISEASE$ incidence: a prospective cohort study.	has_symptom
+30f86f19e657442494469637485c6ee2e1b9f0be	@PHENOTYPICFEATURE$ and @DISEASE$: an overview.	has_symptom
+51c1c73b450c4d1670b6b06a990fe2a702a46162	We describe the clinical, histologic, and ultrastructural findings for a 30-year-old patient who had a mild form of @DISEASE$ with linear lesions characterized by a mixed pattern of @PHENOTYPICFEATURE$ and depigmentation.	has_symptom
+6337dada6e5f653ebaa3ebd231e87e2bd537656e	Implicit learning deficit in children with @DISEASE$: Evidence for a cerebellar @PHENOTYPICFEATURE$?	has_symptom
+f67758a0d80e1f4accdce491e9fcb80613c0396d	The underlying biochemical lesion causing @PHENOTYPICFEATURE$ in @DISEASE$ is unknown.	has_symptom
+2e408e548416142be6fdd1e5c651f5a4df4f61fa	@DISEASE$ (DMD) is associated with @PHENOTYPICFEATURE$ that may result from dystrophin deficiency in neurons.	has_symptom
+b4529c3a28d1869b4f6bc830ed8875c18d50a8b5	Duchenne muscular dystrophy (@DISEASE$) is associated with @PHENOTYPICFEATURE$ that may result from dystrophin deficiency in neurons.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0d0ace1500f9c32896b9f978a383b970436923a0	The precise etiology of @PHENOTYPICFEATURE$ in Duchenne muscular dystrophy (@DISEASE$) is unknown.	has_symptom
+e631c8fb1b63f7ed1a8c13962193a228f0469f84	The precise etiology of @PHENOTYPICFEATURE$ in @DISEASE$ (DMD) is unknown.	has_symptom
+090c83584da88e041fb9a53f0ae6da24b6908b04	@PHENOTYPICFEATURE$ are frequently associated with Duchenne muscular dystrophy (@DISEASE$).	has_symptom
+2f443df781183de37f63e4d1cd02aa89869f2efa	@PHENOTYPICFEATURE$ are frequently associated with @DISEASE$ (DMD).	has_symptom
+533a659f8ab30ffbcb300a9245422bd47d01980f	@PHENOTYPICFEATURE$ is commonly seen in patients with Duchenne muscular dystrophy (@DISEASE$).	has_symptom
+0084fb2334243ccbf6c6e4e27e122f5899314612	@PHENOTYPICFEATURE$ is commonly seen in patients with @DISEASE$ (DMD).	has_symptom
+6505db40f3b0fce1e6a1b1449b8ac73ac7c46eca	Duchenne muscular dystrophy (@DISEASE$) is a genetic disorder that is often associated with @PHENOTYPICFEATURE$.	has_symptom
+38d027e2a072cc4bc92bbf3987fb09c61501fa24	@DISEASE$ (DMD) is a genetic disorder that is often associated with @PHENOTYPICFEATURE$.	has_symptom
+3bcf4349d67c8e573daca82d7a5cd3776a2ee81f	Duchenne muscular dystrophy (@DISEASE$) is accompanied by @PHENOTYPICFEATURE$ and psychiatric symptoms.	has_symptom
+4b1168d5c64866b55c3d211868f161dd42eac1a7	@DISEASE$ (DMD) is accompanied by @PHENOTYPICFEATURE$ and psychiatric symptoms.	has_symptom
+b1c8d5fe69d8c76f62c7c2acb6fa38b00cb0655f	Deletion status and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+792354484d0318674f05edb3054f0b6c40b6af51	@DISEASE$ (dyskeratosis congenita) with @PHENOTYPICFEATURE$--a rare association.	has_symptom
+2a176c4d4eff1203cdee3d1d70a92bbc7f9ca599	@DISEASE$ with bilateral destructive hip @PHENOTYPICFEATURE$.	has_symptom
+5b73a73a33db5268af647ae303f2055edfa38a1e	Eleven patients with acquired cerebellar degeneration (10 of whom had paraneoplastic cerebellar degeneration [@DISEASE$]) were evaluated using neuropsychological tests and 18F-fluorodeoxyglucose/positron emission tomography to (1) quantify motor, cognitive, and @PHENOTYPICFEATURE$; (2) determine if characteristic alterations in the regional cerebral metabolic rate for glucose (rCMRGlc) are associated with PCD; and (3) correlate behavioral and metabolic measures of disease severity.	has_symptom
+b77f49539122ace127e89646e631e328a733860a	Eleven patients with acquired cerebellar degeneration (10 of whom had paraneoplastic cerebellar degeneration [PCD]) were evaluated using neuropsychological tests and 18F-fluorodeoxyglucose/positron emission tomography to (1) quantify motor, cognitive, and @PHENOTYPICFEATURE$; (2) determine if characteristic alterations in the regional cerebral metabolic rate for glucose (rCMRGlc) are associated with @DISEASE$; and (3) correlate behavioral and metabolic measures of disease severity.	has_symptom
+3f293b8e05f451e3dfd254bb29b38e0208dce001	@DISEASE$ (CNS), which is defined as heavy proteinuria, hypoalbuminemia, @PHENOTYPICFEATURE$ and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	has_symptom
+bf8f1206adfa0b628f1025956d3e785ab9178445	Congenital nephrotic syndrome (CNS), which is defined as heavy @DISEASE$, hypoalbuminemia, hyperlipidemia and @PHENOTYPICFEATURE$, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	false
+ab498d50f3a8936eb83fd3f9463fc24a8803f7ce	@DISEASE$ (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and @PHENOTYPICFEATURE$, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	false
+a59c1a08a2c14ab92ed1280a07117c2209acd320	Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, @DISEASE$ and @PHENOTYPICFEATURE$, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	false
+2cde80670b0a4cd03ee6cd43a6939bfaa743da2c	Patients with @DISEASE$ (HSAN III) exhibit marked ataxia, including @PHENOTYPICFEATURE$.	has_symptom
+4e248be3b63d4977ad6d37f8305d00e18589b006	Patients with @DISEASE$ (HSAN III) exhibit marked @PHENOTYPICFEATURE$, including gait disturbances.	false
+e3febb27234c7866f8af6f8cf89afa8fea449139	Patients with hereditary sensory and autonomic neuropathy type III (HSAN III) exhibit marked @PHENOTYPICFEATURE$, including @DISEASE$.	false
+347af3b78203f6f762ff6ca61462186517fa954c	@DISEASE$ (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, @PHENOTYPICFEATURE$, structural abnormalities, metabolic stroke-like episodes, seizures, optic neuropathy, and cranial nerve abnormalities.	has_symptom
+1bf32e6a3b450060e37ddd725b54f315931b53ee	@DISEASE$ (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, @PHENOTYPICFEATURE$, optic neuropathy, and cranial nerve abnormalities.	false
+bde424660a3ac422d3e4f79e8cc8095bcad3bdb3	Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities, metabolic stroke-like episodes, @PHENOTYPICFEATURE$, @DISEASE$, and cranial nerve abnormalities.	false
+30437afcbc7d23965ad669b8799097e795d2f9ff	Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, @DISEASE$, structural abnormalities, metabolic stroke-like episodes, @PHENOTYPICFEATURE$, optic neuropathy, and cranial nerve abnormalities.	false
+4fd9b0d554b94b7f251aff45e366bb3837a0b797	Abnormal dysmyelination constitutes a pathoanatomic basis for the @PHENOTYPICFEATURE$ in two different aminoacidopathies, nonketotic hyperglycinemia and @DISEASE$.	has_symptom
+5855b53ef286c299873863d17b9b35c4cc618282	@DISEASE$ is an inherited neurometabolic disorder characterized by progressive neurological deterioration with psychomotor delay/@PHENOTYPICFEATURE$, convulsions and coma, and whose pathophysiology is poorly unknown.	has_symptom
+9e02b30a3f67f9ab53ab68af257a6e7daed4f5da	@DISEASE$ (PA) is a metabolic disorder that causes @PHENOTYPICFEATURE$ and that can be fatal if untreated.	has_symptom
+cd4ba7ac708ec759c2045cd2cc3e44037df32f45	We present a family with @DISEASE$, with @PHENOTYPICFEATURE$, no phenotypic characteristics of GHD and a novel nonsense mutation in exon 3 of the GH1 gene.	has_symptom
+79176a01fe490b820148bdc78024d05b4b51c67b	Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyrotoxic PP, @DISEASE$, X-linked episodic @PHENOTYPICFEATURE$ syndrome and congenital myasthenic syndromes.	has_symptom
+91d4f4b83fde15bbd3df4cca93a01a07ecc18f20	@DISEASE$ was diagnosed in a 2-year-old Palestinian boy with developmental delay and @PHENOTYPICFEATURE$, and subsequently in his 13-year-old brother with developmental delay.	has_symptom
+40fd69361d4a293c82fffb3e0fbf0acad54f31ee	Familial LCAT deficiency (@DISEASE$) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @PHENOTYPICFEATURE$, anemia as well as proteinuria and renal failure.	has_symptom
+29a8df675643a32e4c63f4a263cccb683c7145c3	Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, @DISEASE$ as well as proteinuria and @PHENOTYPICFEATURE$.	false
+de05505ac3b990f8c321365ce0ef2d9345d3bb4f	Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @DISEASE$, anemia as well as proteinuria and @PHENOTYPICFEATURE$.	false
+85a8d7dddc333c908655db32af96c18eb61432c0	Familial @DISEASE$ (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as proteinuria and @PHENOTYPICFEATURE$.	false
+db838ce44e4ce2416b1df8ebfe8301057de1dfc8	Familial LCAT deficiency (@DISEASE$) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as proteinuria and @PHENOTYPICFEATURE$.	false
+cc6f59b2338860cac24277e8770b7d0112f61657	Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c87bc1922376f99cbc14564413c9c2efbf352e08	Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (@DISEASE$) is a rare genetic disease characterized by @PHENOTYPICFEATURE$, normocytic anemia, dyslipidemia, and proteinuria progressing to chronic renal failure.	has_symptom
+ddabf006e272a6de287fdf5c3fb2a1b0f0855ad7	Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (@DISEASE$) is a rare genetic disorder of lipid metabolism, characterised by low plasma HDL cholesterol, proteinuria, haemolytic anaemia and @PHENOTYPICFEATURE$.	has_symptom
+c27b01764774ee112c3960bd2128cc821c83c275	Familial LCAT deficiency (@DISEASE$) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	has_symptom
+e2bbaf2b9daac36290d2fa2605b0b8771fed4fe7	Familial @DISEASE$ (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+2df748ba196532940b32379f14529a5835bfdee8	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities, @DISEASE$ and proteinuria with @PHENOTYPICFEATURE$.	false
+376847314e311ca38de51701406f1d5c55e35069	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and @DISEASE$ with @PHENOTYPICFEATURE$.	false
+19fcf8ff604bd54f3f10c717b70b2a7a4e61279e	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @DISEASE$, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+685e2f6639620e8bbbb96f9519c0944f7a25427e	Familial LCAT deficiency (FLD) is a rare @DISEASE$ associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+3717010b54080b014a752ce85c8cbe2bebe2560d	Familial LCAT deficiency (@DISEASE$) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	false
+c35bb4579f2527df6ea0c25d4b68ce8064cd7c7b	Patients with @DISEASE$ and fish-eye disease frequently present with @PHENOTYPICFEATURE$, anemia and renal failure with proteinuria.	has_symptom
+fecce44effe448cb49425d9586caffd672ba4b24	Patients with FLD and fish-eye disease frequently present with @DISEASE$, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+b82ca0c631ea292cedd4f92a0d72f3052673995a	Patients with FLD and fish-eye disease frequently present with corneal opacity, @DISEASE$ and @PHENOTYPICFEATURE$ with proteinuria.	false
+b431cbde376048a23016ac2365bd13446d1d3ad7	Patients with @DISEASE$ and fish-eye disease frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+f593c5a357a0397bf9205b1964ae237fca9f0c48	Patients with FLD and fish-eye disease frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+653fa5cbd94e81f88aac24ff1e5c784a4db6daf5	Patients with FLD and @DISEASE$ frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+6fdea609e9fc40f52cc8ec1d6039e4201bef8bc1	Patients with @DISEASE$ have both prebeta-1 and alpha-4 HDL present in their plasma and develop @PHENOTYPICFEATURE$, anemia, proteinuria, and kidney failure.	has_symptom
+c1b3945a66b8cf42be647604fc01d39e0fdd87bb	Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, @DISEASE$, and kidney failure.	false
+adf3b22a8793c6eaf1bcf64a2884109ab7d0e42c	Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop @DISEASE$, @PHENOTYPICFEATURE$, proteinuria, and kidney failure.	false
+1df23763cae69a73c9dde81e1d8231e63ec8fe77	Patients with @DISEASE$ have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and kidney failure.	false
+f5e7f87e7f1c2b0707c06af7016334bff70680ed	Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and @DISEASE$.	false
+558cee9fae0cb7c6ce6706587dc56958244b0f17	Homozygosity for loss-of-function mutations causes familial LCAT deficiency (@DISEASE$), characterized by @PHENOTYPICFEATURE$, anemia, and renal involvement.	has_symptom
+b31cb5a0011d62929c1be5b1aeee427f47c1dec0	Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (@DISEASE$) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including @PHENOTYPICFEATURE$, anemia, and renal disease.	has_symptom
+5d0bcd9b808c9a7bc423b4242404133d38d5bfcb	Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8efe05a5b3bf0e2716d005afbd149cd816284a3f	Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (@DISEASE$) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, @PHENOTYPICFEATURE$, and renal disease.	false
+a4549746b83712f27e4f1eb3117038d16f3c928e	Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including @DISEASE$, @PHENOTYPICFEATURE$, and renal disease.	false
+5585d539d4dd00f392dd511fe7fe6d3bcedbe342	A genetic mendelian autosomal recessive condition of deficiency of lecithin- cholesterol acyltransferase (LCAT) can produce two different diseases: one highly interesting nephrologic picture of complete enzymatic deficiency (@DISEASE$; OMIM ID #245900; FLD), characterized by the association of dyslipidemia, @PHENOTYPICFEATURE$, anemia and progressive nephropathy; and a partial form (fish eye disease; OMIM ID #136120; FED) with dyslipidemia and progressive corneal opacities only.	has_symptom
+89795277ff60e4a1d3d1ef2d13aacccad129ae74	A genetic mendelian autosomal recessive condition of deficiency of lecithin- cholesterol acyltransferase (LCAT) can produce two different diseases: one highly interesting nephrologic picture of complete enzymatic deficiency (lecithin:cholesterol acyltransferase deficiency; OMIM ID #245900; @DISEASE$), characterized by the association of dyslipidemia, @PHENOTYPICFEATURE$, anemia and progressive nephropathy; and a partial form (fish eye disease; OMIM ID #136120; FED) with dyslipidemia and progressive corneal opacities only.	has_symptom
+ca06a58d1d36e18f27f3ca0114725a196b782ad4	A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+b40e202e687008ffc8b8b43d11a35b792259b74b	Besides mental retardation and @PHENOTYPICFEATURE$, all patients showed only minimal manifestations of the holoprosencephaly (@DISEASE$) spectrum and only one displayed symptoms of the Currarino syndrome.	has_symptom
+834ffd10f5cb5bada758a2201239d144da363b4b	Besides @PHENOTYPICFEATURE$ and short stature, all patients showed only minimal manifestations of the holoprosencephaly (@DISEASE$) spectrum and only one displayed symptoms of the Currarino syndrome.	false
+bf946b5786aeff66b8dac5e8a9b7b22fd37789c2	Besides @PHENOTYPICFEATURE$ and @DISEASE$, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the Currarino syndrome.	false
+94c7c0ee8d63699479daf1053add36fea8c53a62	Besides @PHENOTYPICFEATURE$ and short stature, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the @DISEASE$.	false
+345ea672440af8ab606a926309531673ea020bfd	He presented with a solitary median maxillary incisor, @PHENOTYPICFEATURE$, corpus callosum anomalies and a microform of holoprosencephaly (@DISEASE$), diabetes insipidus, and neurodevelopmental delay.	has_symptom
+5a73efdcb0dd933eee25d4f754a84f0e5c80269b	He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (HPE), @DISEASE$, and @PHENOTYPICFEATURE$.	false
+07c0c2d0fff4e428057c3448e08da1b0c25b899c	He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (@DISEASE$), diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+985b7c09ac03d6d5c3666b1cd83258df27d14231	He presented with a solitary median maxillary incisor, @DISEASE$, corpus callosum anomalies and a microform of holoprosencephaly (HPE), diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+89ab6574ac06f8fed4e8da9bb3d1785bf7a64417	Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+17494344cc3c88f8740642b672518b1a7716cb28	We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, @PHENOTYPICFEATURE$ (MR), and @DISEASE$ type 3 caused by a mutation in the recently cloned CA8 gene.	has_symptom
+0fb267f19f1812ee6fe365c90dc73d41059ba58b	We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with @PHENOTYPICFEATURE$, @DISEASE$ (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene.	false
+7b768c11d8407c624a9818b989cb1a289cad58ba	We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with @PHENOTYPICFEATURE$, mental retardation (MR), and @DISEASE$ type 3 caused by a mutation in the recently cloned CA8 gene.	false
+277e41005dcf13728a1073eeaa3342a13815b149	Likewise, mutation I364M, which causes the neurological disorder cerebellar ataxia, @PHENOTYPICFEATURE$, and disequilibrium (@DISEASE$) syndrome, strongly interfered with the electrogenic lipid translocation.	has_symptom
+4935a34c804950b225846e53e976c5156a99ed99	Likewise, mutation I364M, which causes the @DISEASE$ @PHENOTYPICFEATURE$, mental retardation, and disequilibrium (CAMRQ) syndrome, strongly interfered with the electrogenic lipid translocation.	false
+af63ae8a34b5873d0b756bb61946f694e178b305	Likewise, mutation I364M, which causes the neurological disorder @PHENOTYPICFEATURE$, mental retardation, and disequilibrium (CAMRQ) @DISEASE$, strongly interfered with the electrogenic lipid translocation.	false
+78807c5193f1d045573d1dcd8230f60272d71ad6	Likewise, mutation I364M, which causes the neurological disorder @PHENOTYPICFEATURE$, mental retardation, and disequilibrium (@DISEASE$) syndrome, strongly interfered with the electrogenic lipid translocation.	false
+8f9ee622da06a131febc8451eef8dacd35a96358	Likewise, mutation I364M, which causes the neurological disorder @PHENOTYPICFEATURE$, @DISEASE$, and disequilibrium (CAMRQ) syndrome, strongly interfered with the electrogenic lipid translocation.	false
+957f5def3221c7f7e0f320bc3f2642e27a5a1998	@DISEASE$ (DES, OMIM 224050) is a genetically heterogeneous condition that combines autosomal recessive non-progressive cerebellar ataxia with @PHENOTYPICFEATURE$.	has_symptom
+9f0415727098e17e914818e4fd2d2d3ffa8c851a	@DISEASE$ is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with @PHENOTYPICFEATURE$.	has_symptom
+24dbd87404c03f3d9999b345d530998c0ec8f075	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and @PHENOTYPICFEATURE$ associated with cerebellar hypoplasia in the Hutterite population known as @DISEASE$ (DES).	has_symptom
+5e1fd0c50854a6458c5d71efd1b498f5685ec09b	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and @DISEASE$ associated with @PHENOTYPICFEATURE$ in the Hutterite population known as dysequilibrium syndrome (DES).	false
+db935561ed4cb848ecb8686422f01dfd9d0e4795	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and mental retardation associated with @PHENOTYPICFEATURE$ in the Hutterite population known as @DISEASE$ (DES).	false
+abd4a3d50d2a794b31be03853c953ccc4e97e2fd	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @PHENOTYPICFEATURE$ and @DISEASE$ associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).	false
+c7fdb56a9749c9fe395ac0c3595ff9638b046ea9	A homozygous deletion encompassing VLDLR has previously been found to cause a @DISEASE$ of cerebellar ataxia and mental retardation associated with @PHENOTYPICFEATURE$ in the Hutterite population known as dysequilibrium syndrome (DES).	false
+158e06d07a3da5c48876c21a2f1f06c9c062b809	A homozygous deletion encompassing VLDLR has previously been found to cause a @DISEASE$ of @PHENOTYPICFEATURE$ and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).	false
+b151dfc37d46c5957fabaac0a6442c9cf0eb2c18	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @PHENOTYPICFEATURE$ and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as @DISEASE$ (DES).	false
+bbc63fd46502d53bdbd9a815246668d0711f90e4	Xp22.3 deletion in males can be associated with @PHENOTYPICFEATURE$ (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), @DISEASE$ (KAL1) and ocular albinism (OA1), according to the size of the deletion.	has_symptom
+f9dc458cc544bd25c92b0259189869f93f65d44d	Xp22.3 deletion in males can be associated with @DISEASE$ (SHOX), chondrodysplasia punctata (ARSE), @PHENOTYPICFEATURE$ (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+e991c59d1d5bf611a3c6d26394866523727515c4	Xp22.3 deletion in males can be associated with short stature (SHOX), @DISEASE$ (ARSE), @PHENOTYPICFEATURE$ (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+48afc024c0572af1647a6ac2249c71800ebbcf32	Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), @PHENOTYPICFEATURE$ (MRX49 locus), ichthyosis (STS), @DISEASE$ (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+e95830dc54fed33452e1ba10d71b5d74df151411	Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), @PHENOTYPICFEATURE$ (MRX49 locus), ichthyosis (@DISEASE$), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+dc5e441ee1bfbeeb2d82fb2e5b9b55e4e8518744	Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), @PHENOTYPICFEATURE$ (MRX49 locus), @DISEASE$ (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.	false
+e3908989720cf25c38a73a62c24f39bd4d92ae2f	Twenty-eight peripubertal boys with idiopathic @PHENOTYPICFEATURE$ (ISS), 19 males with @DISEASE$.	has_symptom
+007f3a8b342436f47ca02d1e75c81a4a738c85e1	@PHENOTYPICFEATURE$, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and @DISEASE$ have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	has_symptom
+53ba6767af6a1d6e321926a74ac0c768324734b5	Short stature, chondrodysplasia punctata, @PHENOTYPICFEATURE$, @DISEASE$, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+f3a3da59d6223bd5f14e143ab2ec2f18f7294c75	@DISEASE$, chondrodysplasia punctata, @PHENOTYPICFEATURE$, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+51a5b31286927354bf21bdfba9be7826b11ddcc5	Short stature, chondrodysplasia punctata, @PHENOTYPICFEATURE$, steroid sulfatase deficiency, and @DISEASE$ have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+8de2444ee9f3f33ccaa5a3ff3c9cc300bc4abc81	Short stature, @DISEASE$, @PHENOTYPICFEATURE$, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+c7413b57b988c4af5ddf6306afe2c91b611ccd1e	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, @DISEASE$, ocular albinism, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+5fff11e744273c07cabe8b51c3a079050ebda11d	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as @DISEASE$, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, short stature, and @PHENOTYPICFEATURE$.	false
+7b33ea48d4e527f32c4075d51789f1746a0252e1	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+40caa4023e6003784c75e9c39e3c64bd020ac8c4	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, @DISEASE$, ocular albinism, short stature, and @PHENOTYPICFEATURE$.	false
+f5a1bc99e6be750bfdc504d3612a464e1192825a	The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, @DISEASE$, hypogonadotropic hypogonadism with anosmia, ocular albinism, short stature, and @PHENOTYPICFEATURE$.	false
+88de3b2ddd88e6938b648c77fd76170b9a7b80bd	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and @DISEASE$ (KAL).	has_symptom
+685357ce4fef13e53ae6f4b9647674f132387600	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), @PHENOTYPICFEATURE$ (MRX), @DISEASE$ (XLI), and Kallmann syndrome (KAL).	false
+6a0b00814144684d61519242feb137f4e6b12cf8	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), @PHENOTYPICFEATURE$ (MRX), ichthyosis (@DISEASE$), and Kallmann syndrome (KAL).	false
+8b9997cf8f5e318b03da3f60ee60009cd257cbd2	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @DISEASE$ (SS), chondrodysplasia punctata (CDPX), @PHENOTYPICFEATURE$ (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL).	false
+1c2055d73f197c5a0db0145639acf479f28bd603	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), @PHENOTYPICFEATURE$ (MRX), ichthyosis (XLI), and @DISEASE$ (KAL).	false
+6e1924f5d651b95b84835d6d41463096f11f62e4	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), @DISEASE$ (CDPX), @PHENOTYPICFEATURE$ (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL).	false
+3b4e12586763fe6419005bc66f30dd0dd2cc017a	Features like dolichocephaly, @PHENOTYPICFEATURE$ and ear malformations, associated with duplication of the critical region of @DISEASE$, are also present, although this region has not been rearranged in our case.	has_symptom
+d1db918b98045912d6cc280f1b3849d16ec0fde4	A boy with bilateral frontal and occipital diffuse calcifications accompanied by failure to thrive, @DISEASE$, developmental delay and @PHENOTYPICFEATURE$, but without celiac disease is presented.	has_symptom
+76151db15caa538b89c3426b6c216ace0e5cb2c9	A boy with bilateral frontal and occipital diffuse calcifications accompanied by @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and seizures, but without celiac disease is presented.	false
+80f430b32b0e06d9a7851528924c254cad42a633	A boy with bilateral frontal and occipital diffuse calcifications accompanied by @PHENOTYPICFEATURE$, nephrogenic diabetes insipidus, developmental delay and @DISEASE$, but without celiac disease is presented.	false
+1ee338ed9e5536c04ea1272e3adc14db3beab2cf	@PHENOTYPICFEATURE$ in Turner's and @DISEASE$.	has_symptom
+e53b255c9a36d683ce0dabc4bbc7bba8d72ef4ca	@PHENOTYPICFEATURE$ were reported in 54/2322 (2.3%) of the NF1 patients, only 4 of whom had Watson syndrome or NF1-@DISEASE$.	has_symptom
+b48d56e6644f5c393d533933a50ece6b7ca7725a	@DISEASE$ is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate, and @PHENOTYPICFEATURE$.	has_symptom
+b9a8949f9a78929285db9d3694b40fd48c6ba972	Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by @PHENOTYPICFEATURE$, short neck, webbed neck, abnormal auricles, high arched palate, and @DISEASE$.	false
+9ac02e704f475b5fbb9612c2652364e81bd15e7d	@DISEASE$ is an autosomal, dominantly inherited disease; it is physically characterized by @PHENOTYPICFEATURE$, short neck, webbed neck, abnormal auricles, high arched palate, and cardiovascular malformation.	false
+ca614fb93f87a6c4dcaae140e916900a1b915f7c	Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by @PHENOTYPICFEATURE$, short neck, webbed neck, abnormal auricles, high arched @DISEASE$, and cardiovascular malformation.	false
+63d71f5412d69623e01bb843a0e3225374b03350	Animal model of systemic @DISEASE$: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral @PHENOTYPICFEATURE$.	has_symptom
+bb2ce20353b38e1010a1f824eca5fe4e5dee85b3	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, and chest and abdominal pain.	has_symptom
+acf584d5e6b61e44568a72df5f404e374780cd40	Lassa fever is characterized by @DISEASE$, muscle aches, sore throat, nausea, vomiting, and chest and @PHENOTYPICFEATURE$.	false
+aee9c70a196f865fe4d2cba71b838bdea2720147	Lassa fever is characterized by @DISEASE$, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, and chest and abdominal pain.	false
+8dad98b15b7b004cfed95087501a30b3d51bc263	@DISEASE$ is characterized by fever, muscle aches, sore throat, nausea, vomiting, and chest and @PHENOTYPICFEATURE$.	false
+468c145b4e9fa98da40ec1967a6bb40ec0cb31ac	@DISEASE$ is characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, and chest and abdominal pain.	false
+5d58da6408b4994f0546b4065b6c7b2658fef3f5	After German authorities raised an alert regarding the imported @DISEASE$ case, an American healthcare worker who had cared for the index patient in Togo, and who presented with diarrhoea, vomiting and @PHENOTYPICFEATURE$, was placed in isolation and medevacked to the United States.	has_symptom
+26af6837cf9ffda0727bddd598e111df5306b5c4	After German authorities raised an alert regarding the imported Lassa fever case, an American healthcare worker who had cared for the index patient in Togo, and who presented with diarrhoea, @PHENOTYPICFEATURE$ and @DISEASE$, was placed in isolation and medevacked to the United States.	false
+338d54f3d586859cecf6705683a7b8d8cbeca10e	After German authorities raised an alert regarding the imported @DISEASE$ case, an American healthcare worker who had cared for the index patient in Togo, and who presented with diarrhoea, @PHENOTYPICFEATURE$ and fever, was placed in isolation and medevacked to the United States.	false
+5613a91044026da913651b3f13a3ea1f257f18ca	After German authorities raised an alert regarding the imported Lassa fever case, an American healthcare worker who had cared for the index patient in Togo, and who presented with @DISEASE$, @PHENOTYPICFEATURE$ and fever, was placed in isolation and medevacked to the United States.	false
+e255f726e96d2c3c0f98eb8735f6af39ae699c4d	VHFs that have the potential for human-to-human transmission and onset of large nosocomial outbreaks include Crimean-Congo haemorrhagic fever, Ebola haemorrhagic @PHENOTYPICFEATURE$, Marburg haemorrhagic fever and @DISEASE$.	has_symptom
+d5d154df2d1deb74d6c2ab235545be917c902877	Out of these, the four maladies, @DISEASE$, Ebola haemorrhagic @PHENOTYPICFEATURE$, Marburg haemorrhagic fever and Crimean-Congo haemorrhagic fever which are endemically present in Africa or eastern Europe, are known to be such diseases with high man-to-man communicability.	has_symptom
+a1f6274b60c7331212d96e19ee36aff13c08f51f	Lassa virus (LASV) is endemic in parts of West Africa where it causes @DISEASE$ (LF), a viral hemorrhagic @PHENOTYPICFEATURE$ with frequent fatal outcomes.	has_symptom
+546bc56f40949681b7ebc96002842df2795fec85	@DISEASE$, an acute hemorrhagic fever characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and abdominal pain.	has_symptom
+8434852cf8be9a7247910964f3b8ecb40a5c51bd	@DISEASE$, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and @PHENOTYPICFEATURE$.	false
+65f030da14f8e54bab961ad53908cf1838cd7910	Lassa fever, an acute hemorrhagic fever characterized by @DISEASE$, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, diarrhea and chest and abdominal pain.	false
+b5355dd724b3b6dd41438481e13add13c12b47f3	Lassa fever, an acute hemorrhagic fever characterized by @DISEASE$, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and @PHENOTYPICFEATURE$.	false
+a7595e75151433d8682cd3e0e58a631aa0aac507	Lassa fever, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, @DISEASE$ and chest and abdominal pain.	false
+905d83e04e8eec0c0e11dbb79f7a770eb1584cdb	@DISEASE$, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, diarrhea and chest and abdominal pain.	false
+4096d0de12cd8478f13210db7e4ca679dcc0ac3e	Lassa fever, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, vomiting, @DISEASE$ and chest and @PHENOTYPICFEATURE$.	false
+27132676d5c892d809ae0752cebc1cc6b202d927	In this article, parvovirus B19; dengue and yellow @PHENOTYPICFEATURE$; West Nile, Barmah Forest, Marburg, and Ebola viruses, and human herpesviruses; asymmetric periflexural exanthema of childhood; measles; rubella; enteroviruses; @DISEASE$; and South American hemorrhagic fevers will be discussed.	has_symptom
+f6be071beadd45b721998b33d4040653160886ec	The field performance of recombinant antigen-based Lassa @PHENOTYPICFEATURE$ immunoassays was compared to that of quantitative polymerase chain assays (qPCRs) using samples from subjects meeting the case definition of @DISEASE$ presenting to Kenema Government Hospital in Sierra Leone.	has_symptom
+1ad02e17a9338ebd95bcb48ba63fbdd51f65926a	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting and, chest and abdominal pain.	has_symptom
+33cb937030b0abefa787c2f40afa249605feabba	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$ and, chest and abdominal pain.	false
+a113a55564fedabd448a8cff88f56e7fa33a939f	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by fever, muscle aches, sore throat, nausea, vomiting and, chest and @PHENOTYPICFEATURE$.	false
+1339857a702bc6f41cbd8fcfbc17084a7dee3d16	Lassa fever is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by @DISEASE$, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$ and, chest and abdominal pain.	false
+7c5f1ad37a29d3786c34b30f4a558940e5626e50	Lassa fever is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by @DISEASE$, muscle aches, sore throat, nausea, vomiting and, chest and @PHENOTYPICFEATURE$.	false
+a8334b4349c92d85e3d3073c922255cfaaf4b031	Thus, physicians should be familiar with viral hemorrhagic fevers: filoviruses cause Ebola and Marburg @PHENOTYPICFEATURE$, arenaviruses cause @DISEASE$ and South American hemorrhagic fevers, and the bunyaviruses cause among others Crimean-Congo hemorrhagic fever.	has_symptom
+4e919e58e8e6105c8702b9a2ac6546cc80991284	Mitochondrial ornithine transporter deficiency, or @DISEASE$, is a metabolic disorder resulting in various neurologic symptoms, including @PHENOTYPICFEATURE$, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia.	has_symptom
+3672512d03707fabbca298a1c573b9d567ec5ab3	Mitochondrial ornithine transporter deficiency, or HHH syndrome, is a @DISEASE$ resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma caused by hyperammonemia.	false
+cfbdbf52f4cd684684240bf6385cfa04f5965a46	Mitochondrial ornithine transporter deficiency, or @DISEASE$, is a metabolic disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma caused by hyperammonemia.	false
+f0e7d48b5fa540f214f760018bb74fd06664d3a3	Mitochondrial ornithine transporter deficiency, or HHH syndrome, is a metabolic disorder resulting in various neurologic symptoms, including @DISEASE$, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma caused by hyperammonemia.	false
+0fdeb8fe8ca30b48eb52fdd334945b2fb0e5a778	If early diagnosis has not been made, patients with inborn metabolic disorders such as @DISEASE$, Hyperornithinemia and dibasic aminoaciduria rapidly progress to sudden death, physical defect or @PHENOTYPICFEATURE$ resulting in storage of the toxic material into the brain.	has_symptom
+e085f6eee2092c21c0266d24e89aea3317a09367	In this article, we report a new patient with @DISEASE$, a 52-year-old woman, who had the typical clinical features, except for an absence of @PHENOTYPICFEATURE$.	has_symptom
+2104b783d512aa365af08643220469d81e237729	Patients with mitochondrial ornithine transporter deficiency (or @DISEASE$) present with various neurological symptoms, including @PHENOTYPICFEATURE$, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma due to hyperammonemia.	has_symptom
+f25fc616e1fe293221596851e0b8e62dc03fea6e	Patients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms, including @DISEASE$, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+0a230c29640f0e778e1554865a016bde59c2f92e	Patients with mitochondrial ornithine transporter deficiency (or @DISEASE$) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+63aaad1313487238ae808fbc4f381e3b8c0cc26f	Hyperornithinemia is the biochemical hallmark of (hyperornithinemia-hyperammonemia-homocitrullinuria @DISEASE$, an inherited metabolic disease clinically characterized by @PHENOTYPICFEATURE$ whose pathogenesis is still poorly known.	has_symptom
+f84afc45c79f008d863c25812aa8f99285da882f	Mitochondrial ornithine transporter deficiency has been called @DISEASE$, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; @PHENOTYPICFEATURE$, spastic paraparesis with pyramidal signs, cerebellar ataxia and episodic disturbance of consciousness or coma due to hyperammonemia.	has_symptom
+d3307055b5e5cdffce372ffe0c100dd1c3cb943a	Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; @DISEASE$, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$ and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+a5ad427dfe2fbed636f3f1a300310a874d084f29	Mitochondrial ornithine transporter deficiency has been called @DISEASE$, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$ and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+06e01376952efaaaa8d8b79db0df7b31502ec52d	Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; @DISEASE$, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$ and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+aa5e382750cf81fbd4f7bed7cda1a80525a71d5d	The primary defect in patients presenting with a history of protein intolerance, @PHENOTYPICFEATURE$, and epilepsy of variable degree, with the unique triad of hyperornithinemia, hyperammonemia, and homocitrullinuria (the @DISEASE$) has been postulated to be a defect in translocation of ornithine into the mitochondria.	has_symptom
+2319e344dd6a61f8abbe8079f751760caef13cd5	The @DISEASE$ (OMIM # 614230) has been recently described and is primarily characterized by @PHENOTYPICFEATURE$ and facial dysmorphism.	has_symptom
+3e3795a6a83a60492cf59e2066ec9c6efb20f12e	The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+59db9f6fde6c483229372961a0b732b312a2bfd9	The @DISEASE$ (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and @PHENOTYPICFEATURE$.	false
+9cddc236dd92c385b777689b7a578d22174c2011	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	has_symptom
+d6aab2003bd49c6406eddb15bbdf2c01b3d1a231	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and @DISEASE$.	false
+8f06e38730347056a860e367a2b432c40c532866	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, @DISEASE$, and glycerol kinase deficiency.	false
+57479dded789e0773179307ccb629f23911a59ec	All patients had @DISEASE$ or muscle weakness, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+5eac4c1220fcf720b56435787e1fc4cf289b36ff	All patients had @DISEASE$ or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+09c6839c355bfd6617316240bc1fcf036afeaecb	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+1413bf80f174191dfa24e249ad92ce54755d63ab	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+f556516b46902433c0d3ed371b2d814a91f22658	This child has a deletion of part of band 21 of the short arm of the X chromosome (Xp21) and three other X-linked disorders: congenital adrenal hypoplasia, @DISEASE$, and Duchenne type @PHENOTYPICFEATURE$.	has_symptom
+b7bb6a75373597c177760e7fe0b0b055e31581c7	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @PHENOTYPICFEATURE$ features including cleft palate, hypertelorism and micro-retrognatia.	has_symptom
+9fe20d5facbfe91c56322c880f8a3d06d911991a	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia @DISEASE$ characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+2016bd73d706785b1352a972c08dea9473e38080	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia @DISEASE$ characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+1877ee0b6a87d4f6964ee9296877f46801eceee9	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia @DISEASE$ characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including @PHENOTYPICFEATURE$, hypertelorism and micro-retrognatia.	false
+fcece565ace6b5e3618ff92c46aeaf0aac6d3b7b	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @DISEASE$ features including @PHENOTYPICFEATURE$, hypertelorism and micro-retrognatia.	false
+4d4d2ce0212bf6a7a2a56db0d162910393ae0e42	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+c92479775d494dadab517a608314ae2f5b3bc2d8	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and @DISEASE$ features including cleft palate, hypertelorism and micro-retrognatia.	false
+beb85973e33c7fca31cda6e43dfb92d2532ae3b6	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+18646d8e4e4c0be12649780c019b221c251f2acd	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including @PHENOTYPICFEATURE$, hypertelorism and micro-retrognatia.	false
+cc46c7417988c3c0c62581f8436402a08fd11d17	Al-Awadi/Raas-Rothschild (AARR) @DISEASE$ is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including @PHENOTYPICFEATURE$, hypertelorism and micro-retrognatia.	false
+7f25bc4cc9d0f14424c2d4ce3e108f613d7e02fd	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @DISEASE$ features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+c2d3df0da6ae6ec3d38b85dfdbbecd6c525f9cdd	Al-Awadi/Raas-Rothschild (AARR) @DISEASE$ is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+29453deaf2b24ed88f216ad2699f6abc37c50de7	Al-Awadi/Raas-Rothschild (AARR) @DISEASE$ is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+1881e10669e1c68317c32ee459dee917f0a2555e	The aim of our study is to reflect @PHENOTYPICFEATURE$ of 23children diagnosed with @DISEASE$ (MPS) typeI, II, III and IV.	has_symptom
+13180c3fc980d33aca87d48eb479c372df0f643c	A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic @PHENOTYPICFEATURE$, phenyketonuria, congenital hypothyroidism and @DISEASE$ VI (Maroteaux-Lamy syndrome).	has_symptom
+0bf2156706aa076770cb61830c056f0f36ec7252	@DISEASE$ VI (Maroteaux-Lamy syndrome) with @PHENOTYPICFEATURE$ and pupillary membrane remnants.	has_symptom
+108572954aafac35b6eaaa282db79a8f943d0844	Goldberg-@DISEASE$ is a rare autosomal recessive condition that describes the association of Hirschsprung disease with @PHENOTYPICFEATURE$, developmental delay and characteristic facies.	has_symptom
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	has_symptom
+b635333ebb78d6c0058209971385113a51e458ec	A consanguineous family with Hirschsprung disease, @DISEASE$, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	false
+e2b67faaccc5dde9f5dbfa059bb145ed868a787a	A consanguineous family with Hirschsprung disease, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-@DISEASE$).	false
+0673b6fc20d6628f7ca746ec1f94ef6e416dbc3d	A consanguineous family with @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	has_symptom
+5a079652e49a5e107d642f254d559ff03e145a4f	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+b336a121c37c9a248558390136d6a3484e38b034	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+1e7923f8ea15f5bc91b10737078a234f973396be	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1d549d7c2a466f9f0e8068bf2d0929fa592657b5	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+bce6f80da3447d5d4b8d2e0ef15f23f6e37ca551	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+a5263cd04138cacc1007da0d44ddc7075ec15c8b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	has_symptom
+e26d694cce4b53aa933647b968feab308b659b1b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+530937628d6f520867187ef639950a99903d6a14	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly @DISEASE$ distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+ad556f63ab7e9d4cf8f567e13f114364af22d71b	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic @DISEASE$ characteristics.	false
+653e67e39d119b252be44b3b5b928153592c51d9	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple @DISEASE$ syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+df0993357acb191695c7685396e0bf7488e9ce3f	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic facial characteristics.	false
+564c26e8180d74118cb9294e7c3fc2b64cb5c880	(2.8 Mb) including the @DISEASE$ critical region in a patient with mild MR, @PHENOTYPICFEATURE$ at birth, and dysmorphisms.	has_symptom
+b30be1e118f092e894c261bdfd0963119bb169a9	Magnetic resonance imaging abnormalities of the brain in Goldberg-@DISEASE$ (Hirschsprung disease, @PHENOTYPICFEATURE$, and iris coloboma)	has_symptom
+1d3aa47f2f895361ccae2f918e46bd287771d418	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by intellectual disability, @PHENOTYPICFEATURE$, and axonal neuropathy.	has_symptom
+e0185c36693d43e0141c69689de165347ae77134	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and axonal neuropathy.	false
+d186e319746b1b5f8b54c7277fe448b5bcffb537	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the @DISEASE$ Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	false
+045f20a6413fd06c457759fd2949cdd3cfc5fc68	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	false
+3cdf08c29751c6ef34e34373b8fd2ba125502ec2	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+6bad51c132f9b434609b7e993d0afe3cc6772486	Supplemental therapy in @DISEASE$ improves the @PHENOTYPICFEATURE$ and prevents the progression of ataxia.	has_symptom
+c285458a7cc27f2c2e8b77b7af4e873d6b91f7bc	Supplemental therapy in isolated vitamin E deficiency improves the @DISEASE$ and prevents the progression of @PHENOTYPICFEATURE$.	false
+8ceff68e9469ca75b7bc8f90f92adf4caede4788	Supplemental therapy in @DISEASE$ improves the peripheral neuropathy and prevents the progression of @PHENOTYPICFEATURE$.	false
+e3047bc8f842980a33a17e58ada12b57a8ae6b42	Mutations in the human SMS lead to a rise in spermidine and reduction of spermine causing @DISEASE$, an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, skeletal defects, hypotonia, and movement disorders.	has_symptom
+759273f23dd354b77cd484406d39abf83708ea3e	Mutations in the human SMS lead to a rise in spermidine and reduction of spermine causing Snyder-Robinson syndrome, an X-linked recessive condition characterized by @DISEASE$, skeletal defects, hypotonia, and @PHENOTYPICFEATURE$.	false
+15b6f676f1a35ad0d7e196b27b554a4e6a4fb2a9	Mutations in the human SMS lead to a rise in spermidine and reduction of spermine causing @DISEASE$, an X-linked recessive condition characterized by mental retardation, skeletal defects, hypotonia, and @PHENOTYPICFEATURE$.	false
+afd13b5bceac22c7e21b86ce3460065c83d85ba1	@DISEASE$ is an X-linked genetic disorder characterized by @PHENOTYPICFEATURE$, facial asymmetry, thickened lower lip, long hands with hyper extendable fingers, slow speech, and hyposcoliosis.	has_symptom
+d2e77c21901e5960bc9f7c3a1650e7249acf0447	@DISEASE$ (SRS, OMIM 309583) is a rare X-linked syndrome characterized by @PHENOTYPICFEATURE$, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry.	has_symptom
+6f8aaa4c2bf6573aa6b99c0d8df437c6d1a46cbb	The Autism Spectrum Rating Scale (ASRS) and the Social Responsiveness Scale (@DISEASE$) have been widely used for screening autism spectrum disorder (ASD) in the general population during epidemiological studies, but studies of individuals with @PHENOTYPICFEATURE$ (ID) are quite limited.	has_symptom
+a9a9fd6c6fbcb3ffb4790daeeec0354ea1d29c49	Snyder-Robinson syndrome (@DISEASE$) is a form of X-linked @PHENOTYPICFEATURE$ resulting from mutations in spermine synthase (SMS), which impact neurodevelopment and cognitive outcome.	has_symptom
+3aa9af30a99650b7e3532eafe94f33f759cc2b8b	@DISEASE$ (SRS) is a form of X-linked @PHENOTYPICFEATURE$ resulting from mutations in spermine synthase (SMS), which impact neurodevelopment and cognitive outcome.	has_symptom
+ea2a6f72f36ffcccd67b875481a87a1dade8e086	The defect results from a splice mutation, and is associated with the Snyder-Robinson syndrome (@DISEASE$, OMIM_309583), an X-linked @PHENOTYPICFEATURE$ disorder.	has_symptom
+16fe721f87e7651d4f120677e17f34f73cde7a03	The defect results from a splice mutation, and is associated with the @DISEASE$ (SRS, OMIM_309583), an X-linked @PHENOTYPICFEATURE$ disorder.	has_symptom
+4b2a453ceaf81564b1ece082d518fdacc930d844	Here we describe another family with @DISEASE$ in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked @PHENOTYPICFEATURE$ syndrome.	has_symptom
+d8eb0048d18dc90ce7df7ca3b1b06e5e6e2a4116	Snyder-Robinson Syndrome (@DISEASE$) is a rare @PHENOTYPICFEATURE$ disorder which is caused by the malfunctioning of an enzyme, the spermine synthase (SMS), which functions as a homo-dimer.	has_symptom
+38345224690d1b35deec5372a9243252d95e6402	@DISEASE$ (SRS) is a rare @PHENOTYPICFEATURE$ disorder which is caused by the malfunctioning of an enzyme, the spermine synthase (SMS), which functions as a homo-dimer.	has_symptom
+96037c30343547be51c31296e5f5cd6db729bb88	Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis enzyme, cause Snyder-Robinson syndrome (@DISEASE$), an X-linked @PHENOTYPICFEATURE$ syndrome; however, little is known about the neuropathogenesis of the disease.	has_symptom
+874f71049c05a35510e9b9845e6c8bf21120dce7	Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis enzyme, cause @DISEASE$ (SRS), an X-linked @PHENOTYPICFEATURE$ syndrome; however, little is known about the neuropathogenesis of the disease.	has_symptom
+0bc392563981df210397c224b5c78b4bae2709ad	A large reduction in spermine synthase in human males due to a splice site variant causes @DISEASE$ with @PHENOTYPICFEATURE$, hypotonia and skeletal abnormalities.	has_symptom
+f4c36f1ed69b85dff1a13c97edf571be9d19ff8e	A large reduction in spermine synthase in human males due to a splice site variant causes @DISEASE$ with mental retardation, hypotonia and @PHENOTYPICFEATURE$.	false
+f541ce872cef058916e6784bf4df0e20fbd4f95a	A large reduction in spermine synthase in human males due to a splice site variant causes Snyder-Robinson syndrome with @DISEASE$, hypotonia and @PHENOTYPICFEATURE$.	false
+229195c38004893b2cd2820f65a0498ab04545da	@DISEASE$ type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and @PHENOTYPICFEATURE$, caused by a homozygous mutation in MPLKIP gene.	has_symptom
+14d79e3a373e40ceef350513645b24a0ccb6e095	Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like @PHENOTYPICFEATURE$, ichthyotic skin and @DISEASE$, caused by a homozygous mutation in MPLKIP gene.	false
+f7841a58b21392c80360866ccfffad897d182754	@DISEASE$ type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like @PHENOTYPICFEATURE$, ichthyotic skin and short stature, caused by a homozygous mutation in MPLKIP gene.	false
+03447beb5e0866662e13564031026ac960f1ea10	@DISEASE$ is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), intellectual impairment (I), decreased fertility (D) and @PHENOTYPICFEATURE$ (S), which accounts for the acronym PIBIDS or IBIDS syndrome, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	has_symptom
+393fcce2c48d07dad6d0afa1224b5bb75bce4e21	Trichothiodystrophy is clinically associated with photosensitivity (P), @DISEASE$ (I), dry, brittle hair (B), @PHENOTYPICFEATURE$ (I), decreased fertility (D) and short stature (S), which accounts for the acronym PIBIDS or IBIDS syndrome, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+18623d3344b1269d486245d53a05a6a228545392	Trichothiodystrophy is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), @PHENOTYPICFEATURE$ (I), decreased fertility (D) and short stature (S), which accounts for the acronym PIBIDS or @DISEASE$, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+23e312db2df3266cdcdc941e084df06ed11370a0	@DISEASE$ is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), @PHENOTYPICFEATURE$ (I), decreased fertility (D) and short stature (S), which accounts for the acronym PIBIDS or IBIDS syndrome, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+d14ff6c74d4d81e4fc2fc3fe159faa2650b5deb3	Trichothiodystrophy is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), @PHENOTYPICFEATURE$ (I), decreased fertility (D) and @DISEASE$ (S), which accounts for the acronym PIBIDS or IBIDS syndrome, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+e55e22fd72e26cb1979ebf21e9cdd3af404675d3	We report an adolescent presenting with joint symptoms, @PHENOTYPICFEATURE$, and eye swelling with a clinical diagnosis of @DISEASE$.	has_symptom
+bcded060665ba7414c74c952f85755f0f9b4d0e6	@DISEASE$ (BCS1 OMIM #229200, BCS2 #614170) is a rare @PHENOTYPICFEATURE$ condition characterised by diffuse thinning and fragility of the cornea.	has_symptom
+34175bba3969d7789b6f75654b01e1e2bc87ebee	We describe a 5 1/2 year old boy who was diagnosed with mild @DISEASE$ based on the presence of bony sclerosis, extramedullary haematopoeisis, leukoerythroblastosis and @PHENOTYPICFEATURE$ who had an allogeneic bone marrow transplant from a matched sibling donor.	has_symptom
+e4ee73943f2702367c23068f573b16483d79f44a	An acid-ceramidase activity below 10% results in @DISEASE$, an early-onset disease starting with subcutaneous lipogranulomata, @PHENOTYPICFEATURE$, and hoarseness of the voice, whereas a higher residual activity might be responsible for SMA-PME, a later-onset phenotype restricted to the CNS and starting with lower-motor-neuron disease.	has_symptom
+bf15c2c91331802734bd68c9c89d9de8db661a9a	We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right @PHENOTYPICFEATURE$, leading to the suspicion of @DISEASE$.	has_symptom
+809c29864dbe59117f388aa9d052afa6f4cf3483	Chromosome @DISEASE$ is a rare genomic disorder characterised by intellectual disability, @PHENOTYPICFEATURE$, unusual facial morphology and other anomalies.	has_symptom
+1b7e5b051b65b34ce6f8f4edb4fc93dc1bd048d1	Chromosome @DISEASE$ is a rare genomic disorder characterised by @PHENOTYPICFEATURE$, growth retardation, unusual facial morphology and other anomalies.	false
+740c8ce371a9876ae515b660ace613a05511dac7	Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by @PHENOTYPICFEATURE$, @DISEASE$, unusual facial morphology and other anomalies.	false
+ca39235a020a0fbf5b1cd5bcb3ced4cd2bdb2a42	@PHENOTYPICFEATURE$ is most common symptom at onset in @DISEASE$, emphasing importance of RNS of the facial nerve, in the absence of molecular diagnosis of CMS.	has_symptom
+538f805d6353f01d4c1531d499c89c41a1e2dc23	@PHENOTYPICFEATURE$ is most common symptom at onset in CMS, emphasing importance of RNS of the facial nerve, in the absence of molecular diagnosis of @DISEASE$.	has_symptom
+9a2548ba36a95e7dfac590230359ae56f3085671	A 20-year-old Chilean girl presented with lifelong @PHENOTYPICFEATURE$ and fatiguable weakness which was initially thought to be due to a @DISEASE$.	has_symptom
+35a018cc5627a04d63e09bdd9e4a59455fd92284	We report here an Iranian patient in whom @DISEASE$ was diagnosed since he presented with congenital and fluctuating bilateral symmetric @PHENOTYPICFEATURE$, upward gaze palsy and slowly progressive muscle weakness leading to loss of ambulation.	has_symptom
+cbbec72ed067fb94e2c53d0f373b6031c020a79b	A majority of the JMG and @DISEASE$ patients had ocular involvement (90.3% and 85.1%, respectively), including @PHENOTYPICFEATURE$ and ocular movement deficits.	has_symptom
+65828782d966442cc0288c666105bb0dda5f004a	To identify the genetic cause in a patient affected by @PHENOTYPICFEATURE$ and exercise-induced muscle weakness and diagnosed with @DISEASE$ (CMS) using whole-genome sequencing (WGS).	has_symptom
+bfa251923a463b311843cfd5bfacb7792ad00459	To identify the genetic cause in a patient affected by @PHENOTYPICFEATURE$ and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (@DISEASE$) using whole-genome sequencing (WGS).	has_symptom
+2a6d0b7f14b760ff17b640cfe3d48dd8f8ee3bfd	A 3-year-old male patient with @DISEASE$ had @PHENOTYPICFEATURE$ and limb weakness for 2 months after birth.	has_symptom
+9f1777aef97aa964ef2227fb9afe705182123bee	In all patients with @DISEASE$, strabismus, ophthalmoplegia, and @PHENOTYPICFEATURE$ were the main ophthalmologic signs and remained relatively constant.	has_symptom
+60ca5a8f065caf03f16503cc291fc165b6a480ba	Our study suggests that oculoplastic surgeons have made a change in the delivery of @PHENOTYPICFEATURE$ and blepharoplasty surgical services after the reimbursement policy change for these procedures by the @DISEASE$ in 2009.	has_symptom
+078a39e06c317346b703754ee1991b6d735f15f4	Twin 1 showed classical features of the congenital myasthenic syndromes (@DISEASE$), that is, @PHENOTYPICFEATURE$, dysphonia, asthenia and hypotonia.	has_symptom
+e6d4fef55d023f245cd33925b46089a984a7fa14	This syndrome underlines that @DISEASE$ can occur in the absence of classic myasthenic manifestations such as @PHENOTYPICFEATURE$ and ophthalmoplegia or facial weakness, and links myasthenic disorders with dystroglycanopathies.	has_symptom
+7881e190b4b5a3f4987d5d91de48cc60a9daa2cc	Septal basal LSsys (-6?2%) was significantly lower in patients with CA compared with those with isolated @DISEASE$ hypertension (-14?6%), Fabry disease (-12?5%), Friedreich @PHENOTYPICFEATURE$ (-16?2%), or control subjects (-17?3%; all P<0.001), whereas septal apical LSsys was similar among all patient groups and control subjects (all P>0.05).	has_symptom
+9f08b7fb07e5c8a59c7bed1475d9cb4676e442b0	All the patients had some neurological symptoms (headache, dizziness) and chronic @DISEASE$ insufficiency of the right arm, five patients had clinically and arteriographically detected subclavian steal syndrome (SSS) with vertebrobasilar symptoms (@PHENOTYPICFEATURE$ and syncops).	has_symptom
+d85efc2ba9835fea1e1291cdfd4283d2b59317fe	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, hearing impairment, and optic atrophy.	has_symptom
+10b92c1abd4e8980703b200a0b48c582390bce11	Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @DISEASE$, delayed motor development, @PHENOTYPICFEATURE$, and optic atrophy.	false
+cb9fe7c11c8fe668b8638e464a24d184b4809a8b	Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @DISEASE$, delayed motor development, hearing impairment, and @PHENOTYPICFEATURE$.	false
+eef6f047d29c72c41959c7baf8ea6a4cb3ba7043	@DISEASE$ is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy.	false
+71786380a8b576713de5c3eb5d00940a9c2cbf10	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and @PHENOTYPICFEATURE$.	false
+b43b1110eeb969ab9fc92f620689711c0a0fc682	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, @PHENOTYPICFEATURE$, and optic atrophy.	false
+819ecb3c865fec90146f85fc94b8f64fc998cf54	Arts syndrome is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, @DISEASE$, delayed motor development, hearing impairment, and optic atrophy.	false
+f0f4cd86b0fe206d36b8e185d121b2fe68b5ccd6	Consecutive hypertrophic patients with CA, isolated @DISEASE$ hypertension, Fabry disease, and Friedreich @PHENOTYPICFEATURE$ (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	has_symptom
+98614007cc4d882465940c782afce5d46896bf3f	Consecutive hypertrophic patients with CA, isolated arterial @PHENOTYPICFEATURE$, @DISEASE$, and Friedreich ataxia (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	false
+6be04f01107eca42891cfa42351f293e33887493	Consecutive hypertrophic patients with CA, isolated arterial @PHENOTYPICFEATURE$, Fabry disease, and Friedreich @DISEASE$ (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	false
+383af6284d9302c5e054909705790821637f8959	Consecutive hypertrophic patients with CA, isolated @DISEASE$ @PHENOTYPICFEATURE$, Fabry disease, and Friedreich ataxia (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	false
+e9a6e55e92994d199fd9c176a115c695a464dcb1	@DISEASE$ is characterized by early-onset hypotonia, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	has_symptom
+0ed6b6b97377517300ea0bc69b15dc44abb7a6ac	Arts syndrome is characterized by early-onset hypotonia, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, progressive optic atrophy, and a tendency to develop infections.	false
+1abf03e04c91324c137fa8a010e3512482c0df56	@DISEASE$ is characterized by early-onset hypotonia, ataxia, @PHENOTYPICFEATURE$, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	false
+fe4098d2550402b0a6a3c9d7162adb41bd8b5ebd	Arts syndrome is characterized by early-onset hypotonia, @DISEASE$, intellectual disability, sensorineural hearing impairment, progressive @PHENOTYPICFEATURE$, and a tendency to develop infections.	false
+9864786794be95c20b03d55be1646a6c1ed3cebb	@DISEASE$ is characterized by early-onset hypotonia, ataxia, intellectual disability, @PHENOTYPICFEATURE$, progressive optic atrophy, and a tendency to develop infections.	false
+760398c8a8a3be6cb377a0c76ccbcb05d6c3bdc9	Arts syndrome is characterized by early-onset hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	false
+36a86a30f42a7fa0b0555517c6b30fe3560fa8d9	@DISEASE$ is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive @PHENOTYPICFEATURE$, and a tendency to develop infections.	false
+76a3ad5c4467484bdf38020de56db316679bb496	@DISEASE$ thrombosis by APS might cause @PHENOTYPICFEATURE$ and myocardial infarction.	has_symptom
+d718392cf3dc08e078cbb0261122a34833bf680d	A group of unrelated patients (n=82), characterized by @PHENOTYPICFEATURE$, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, @DISEASE$/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study.	has_symptom
+51311023654ab4664ade2d3a78f39f4d35c36010	We present a pediatric case of @DISEASE$ ischemic stroke that presented to the emergency department (ED) after two @PHENOTYPICFEATURE$.	has_symptom
+3789f44ef9bc022ca6fc3ee160618b29c16f4619	Although acute @PHENOTYPICFEATURE$ are common among neonates with @DISEASE$ ischemic stroke (AIS), the incidence of subsequent seizures is unknown.	has_symptom
+ed5b173988f0d2b62f44794931c8615334eeda3e	Although acute seizures are common among neonates with @DISEASE$ ischemic stroke (AIS), the incidence of subsequent @PHENOTYPICFEATURE$ is unknown.	has_symptom
+438c74958a34aac10158120381d9b2451c644c6c	Under control conditions, @DISEASE$ hypoxia and @PHENOTYPICFEATURE$ increased CBF by approximately 150% and 300%, respectively.	has_symptom
+1ae44290fb338b831b263824a1662acffa7db6b4	Inadvertent @DISEASE$ injection caused @PHENOTYPICFEATURE$ or stroke in percutaneous nerve block.	has_symptom
+9208f35ad9c7d148cb830b1a8fe6f2881e13d997	Atomoxetine also provokes @PHENOTYPICFEATURE$, @DISEASE$ hypotension, tachycardia, and hepatic disorders.	has_symptom
+58af2e36f56ea47777a54f0abd34677b54ba9088	Nineteen (42%) presented with @PHENOTYPICFEATURE$ as the first sign of @DISEASE$ hypertension.	has_symptom
+8392f0e77f56ec8570ba2840e85fdd3eb98d4667	@DISEASE$ ischemia should be routinely considered in neonates who develop @PHENOTYPICFEATURE$ a few days after an uneventful birth.	has_symptom
+bcc9889a07f3a8d1cdfdd79ae0e1f144888412f5	The coexistence of @PHENOTYPICFEATURE$ and @DISEASE$ hypertension requires an adequate and efficacious treatment involving both protection from seizures and reduction of high arterial blood pressure.	has_symptom
+7c84d3b379967c52423b30d05a4be05f22a7bd6e	The coexistence of seizures and @DISEASE$ hypertension requires an adequate and efficacious treatment involving both protection from @PHENOTYPICFEATURE$ and reduction of high arterial blood pressure.	has_symptom
+c6759e5bf8697b52152b09cf192da77e6c013b6f	The patient presented with headaches, an @PHENOTYPICFEATURE$, confusion, and @DISEASE$ hypertension.	has_symptom
+76fe2bd1cddaa0c0743036b141de19e35f9f85cf	Sustained @PHENOTYPICFEATURE$ complicated by hypoxia, @DISEASE$ hypotension or hyperthermia: effects on celebral energy state.	has_symptom
+31cfdd274594918e8e2580a948452e2d862e6901	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	has_symptom
+5e1d8152c1f636fb7eb08337b4750b5c9b1f9b03	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+575a3103942da973329aba69d8243f6536b1d021	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+10f48848803a83d5757746720afd21cc7b8bac6e	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6514a0241b67d6e4689a49385c7113a992a8cb6d	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+f58f2c376cb9e2016af6ddaea30f087eb39208d1	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+7ec962552c2da08e8c156eff750cce2af96e1a24	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+790519476852fd53d156b5ba04cb3f36b6bd54c2	Differences in clinical course and symptoms with type A and B @DISEASE$ are shown (later presentation of symptoms, milder course, lack of distinct psychomotor regression and differences in characteristic phenotypic traits, such as facial features, @PHENOTYPICFEATURE$, tall height).	has_symptom
+5d9e048a727af0a9a4aefe48640ae9e6411848a7	Mutations in the recently described hemojuvelin gene were found in patients with @DISEASE$, who usually manifest clinical signs of iron overload, including cardiomyopathy and @PHENOTYPICFEATURE$, in their teens and early 20s.	has_symptom
+bd4bc8bec99759bb02e5e76502154d443489c804	@DISEASE$ and @PHENOTYPICFEATURE$ caused by PGAP1 variants.	has_symptom
+bfe35aa300b8ab27b3aafe8f846632173940f1bc	Here we performed whole-exome sequencing in an individual with @DISEASE$ (CVI), @PHENOTYPICFEATURE$ (ID), and factor XII deficiency and revealed compound heterozygous variants in PGAP1, c.274_276del (p.(Pro92del)) and c.921_925del (p.(Lys308Asnfs*25)).	has_symptom
+36382c05d2cff5c09a033ab3d5db69c405f8f4b3	De novo GRIN1 mutations are associated with severe @PHENOTYPICFEATURE$ with @DISEASE$ as well as oculomotor and movement disorders being discriminating phenotypic features.	has_symptom
+2a11eb6c17258a2e266349d12e9a929d88959c78	Perinatal asphyxia is characterized by oxygen deprivation and lack of perfusion in the perinatal period, leading to hypoxic-ischemic encephalopathy and sequelae such as cerebral palsy, @PHENOTYPICFEATURE$, @DISEASE$, epilepsy and learning disabilities.	has_symptom
+4c8909fc3c6c1be1cab9196f36ba71231b5f1d8d	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @PHENOTYPICFEATURE$, hypotonia, spasticity, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	has_symptom
+b2ec38f7571d49c459d8a49d286f2e7b0fd1dec7	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, @PHENOTYPICFEATURE$, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+474a913e0a7bbf82997d1a489dac9800a52c4ed0	Using whole-exome sequencing, we have identified in ten families 14 individuals with @PHENOTYPICFEATURE$, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+1400da22bd95b2fbe066ff5bc822320481e6498b	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, @PHENOTYPICFEATURE$, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+242807ddb0d0dbffa6ebf0fda271cbe080305dd6	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @DISEASE$, hypotonia, @PHENOTYPICFEATURE$, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+43717f1280e551f53478e938b7e69d6fbae8dcee	Using whole-exome sequencing, we have identified in ten families 14 individuals with @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+afe31128ba70d36409461288fe057f2537e8344a	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+d61e9f238bb3fc67bbdb658c2cf86bdaee21e040	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @DISEASE$, hypotonia, spasticity, seizures, @PHENOTYPICFEATURE$, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+c3986daa8109b69a31d99e15a4cd718373a867f8	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @DISEASE$, hypotonia, spasticity, @PHENOTYPICFEATURE$, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+1be779f57653a9bac4149d5f1e461666c1a4880e	Thirty-two had a severe neurological outcome (mainly cerebral palsy, sometimes associated with @PHENOTYPICFEATURE$ and/or @DISEASE$).	has_symptom
+a955eef3128077e0c51d61430ddcbec21d4e684a	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe @PHENOTYPICFEATURE$, skeletal abnormalities, congenital cardiac disease and @DISEASE$.	has_symptom
+122b7fcf1f399dbe23e78767fe2e81430f1a0447	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and cortical visual impairment.	false
+fc5bc367af4ecc03ac37e06bc17e418ed81cae17	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital cardiac disease and cortical visual impairment.	false
+260e2ea964ce5378c61e171e1673f9436b6a9e28	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital cardiac disease and @DISEASE$.	false
+37cb3df0021d8c8ead2a4255b30f1f0593044a8e	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and @DISEASE$.	false
+c32538a66afe83ccd53c1640562c065f49cbab1e	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe @DISEASE$, @PHENOTYPICFEATURE$, congenital cardiac disease and cortical visual impairment.	false
+275a42f5beba213aa54c3b537cf0a224014fe01d	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe @DISEASE$, skeletal abnormalities, congenital cardiac disease and cortical visual impairment.	false
+ec33272c17ac77693d1f48f9fa6b12d5e155bddd	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital @DISEASE$ and cortical visual impairment.	false
+37a40417a3ecc232d9cc64b228c4ab0b278eb218	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital @DISEASE$ and cortical visual impairment.	false
+4246e2670fc418dab58cb54b90c43a545af4ebfc	@DISEASE$ and @PHENOTYPICFEATURE$ in a neonate with multiple congenital malformations.	has_symptom
+7055f16010a519b08b7dcb88208e0afa726d90d6	The @PHENOTYPICFEATURE$ in @DISEASE$ is generally prelingual and profound.	has_symptom
+19b973db6d5bbe22ff64495545544960d583be9b	@DISEASE$ is a congenital ectodermal dysplasia characterized by the association of vascularizing keratitis, hyperkeratotic skin lesions and @PHENOTYPICFEATURE$.	has_symptom
+b1efea54bd8b52f977170e9f63d71bd44d54e75c	The results of molecular-genetic investigations provided the data on pathogenesis of different variants of @PHENOTYPICFEATURE$ and the associated genotype-phenotype relationships that may be used as a basis for the further development of the methods for the prevention and treatment of @DISEASE$.	has_symptom
+6a95b0f526c7e91d3438459c61e4a3a5818331f0	We present a child with @DISEASE$ and bilateral profound @PHENOTYPICFEATURE$ associated with a novel heterozygous missense D50A connexin 26 mutation (c.149A > C).	has_symptom
+370c1ed9563deaf7060550f10c1de8660d16eec4	@DISEASE$ is a rare genodermatosis characterized by keratitis, ichthyosis, and @PHENOTYPICFEATURE$.	has_symptom
+7aa418333a7f98630c9a952cb2c1d93e11a42285	The hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	has_symptom
+41ff18f15fc3ec01949aea312a2cf8824b6d8762	The @DISEASE$ (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	has_symptom
+e13dd587c23c59d32f5676b4edd3a9fa940d3ec9	The @DISEASE$ (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, skin rash, and headache).	false
+f54c5e638c12814601e3104eaedabf8878331d96	The hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, skin rash, and headache).	false
+9e867e39af5cf2ac1d715c8a5b0a396132d2196a	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/@DISEASE$, abdominal complaints, skin rash, and headache).	false
+4cad7f934935fd07a1734380400ddd8783c5db11	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, @DISEASE$, and headache).	false
+9836a6f713f79c27ff74a6fe471a22e30ecc2784	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive @DISEASE$ characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, skin rash, and headache).	false
+08fc002edc9a86c5385edeb61d657041694a2e58	Bardet-Biedl syndrome (@DISEASE$) is a heterogeneous disorder characterized by @PHENOTYPICFEATURE$, retinopathy, polydactyly, and congenital anomalies.	has_symptom
+ade99e2e275d32b2776d50beadbe4b111c6e66aa	@DISEASE$ (BBS) is a heterogeneous disorder characterized by @PHENOTYPICFEATURE$, retinopathy, polydactyly, and congenital anomalies.	has_symptom
+b790b7edf24f01af8cebf14e826ad99097d16816	Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+565276085572679d7fd9aa82a75cf133f6ce4527	Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by @DISEASE$, retinopathy, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+f6cb5d9e17b192a14b38c18f0d4a4020d4c92d67	@DISEASE$ (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+a6870d274d5ab5906ba379d6becec918a9342210	Bardet-Biedl syndrome (@DISEASE$) is a heterogeneous disorder characterized by obesity, retinopathy, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+aab4e2adbad15c230cd080b40955ec1590cdf328	@DISEASE$ (BBS) is an autosomal recessive ciliopathy, and @PHENOTYPICFEATURE$ is among its defining characteristics.	has_symptom
+3db210fef3f2a8c2b709ef6d0108565889695ab5	Bardet-Biedl Syndrome (@DISEASE$) is an autosomal recessive ciliopathy, and @PHENOTYPICFEATURE$ is among its defining characteristics.	has_symptom
+d223756600884ab2db0d0cdf3c95944bc52f0a38	[A case of @DISEASE$ with marked @PHENOTYPICFEATURE$].	has_symptom
+38e4f428fcd0ba9779b3fc4f22e28d79510709cb	@DISEASE$ (BBS) is a genetically heterogeneous disorder of the primary cilium associated with @PHENOTYPICFEATURE$.	has_symptom
+923e15970a78ac9006eb7e03f3d31f5ec7ac9e1c	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous disorder of the primary cilium associated with @PHENOTYPICFEATURE$.	has_symptom
+1eb3bc3b6e9dfd1a19e33757959c41529a8854d0	Appetite dysregulation may contribute to @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8706a7542774a80fbf5281c76ee802d006a87ff4	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder associated with marked @PHENOTYPICFEATURE$.	has_symptom
+8df693f6dc268f890d7b68cd059e0233032a6327	@DISEASE$ (BBS) is an autosomal recessive disorder associated with marked @PHENOTYPICFEATURE$.	has_symptom
+4eb4e27c3e3862e4eb28529a8fc14466733f2177	We present the case of a boy with pathological @PHENOTYPICFEATURE$ and Bardet-Biedl syndrome (@DISEASE$).	has_symptom
+649d1cb9f1ab27894d03907b5e45f0b127afa49b	We present the case of a boy with pathological @PHENOTYPICFEATURE$ and @DISEASE$ (BBS).	has_symptom
+eeaae2e7578a0739a439e822cd693184731d37bf	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive ciliopathy, presenting with early @PHENOTYPICFEATURE$ onset.	has_symptom
+db2b1587bb4d3e09f4cc2e885f30340d4441affc	@DISEASE$ (BBS) is an autosomal recessive ciliopathy, presenting with early @PHENOTYPICFEATURE$ onset.	has_symptom
+91c945101e73e1fc55a93f3d6f1ccded3f23ebc1	@DISEASE$ (BBS) is a rare monogenic multi-systemic disorder manifesting with marked @PHENOTYPICFEATURE$.	has_symptom
+bde4edb52efbefc5e6902f1791eefe673e4eb9b4	Bardet-Biedl syndrome (@DISEASE$) is a rare monogenic multi-systemic disorder manifesting with marked @PHENOTYPICFEATURE$.	has_symptom
+1d053ffbcd204772f5b351e47e90334d74463f2b	Bardet-Biedl syndrome (@DISEASE$) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+78ae333384d29bad114764edfb0b2f481cbdda0a	@DISEASE$ (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+e6c9dba5fc49b0894df179b80b2c92c6deae8c5e	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+f6e937a0a87f69ec883eb4c4c9b086dc5e042db3	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+e678631a371bf0da2072ee18c98a8565db36a39a	Bardet-Biedl syndrome (@DISEASE$) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+9ce57a5090cf7276232a6f48049fbcaf71341ef4	@DISEASE$ (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+b3f287e290da9ba58f9dc137376ec514d15fc154	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (@DISEASE$) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+ec9797277fda5b62b08760de02b5e9398d1de5a7	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, @DISEASE$, and hypogenitalism.	false
+bd2d5571c9593a3270d50fe3c8224f68ebf91bc6	An 11-year-old boy with @DISEASE$ developed acute bone pain of the left thigh, accompanied by @PHENOTYPICFEATURE$ and signs of inflammation.	has_symptom
+6645c0eac372e5f4a51c5cacd54993876bbb699e	We describe a 58-year-old woman who was incidentally found to have gastric and colonic polyposis, hypoalbuminemia, @PHENOTYPICFEATURE$ and onychodystrophy (@DISEASE$).	has_symptom
+17d420603b228d26cec039ffc748119576a6cf98	We describe a 70-year-old woman who presented with watery diarrhea and was found to have gastric and colonic polyposis, @PHENOTYPICFEATURE$, alopecia and onychodystrophy (@DISEASE$).	has_symptom
+54104f26530b849fa8318c4d46871d4d62f1855a	Associated alopecia, @PHENOTYPICFEATURE$ and nail dystrophy with loss of nails were consistent with the diagnosis of @DISEASE$.	has_symptom
+284aedc2b857068482cf75c88cd70c63a7c7988a	@DISEASE$ is a rare syndrome consisting of extensive gastrointestinal polyposis and ectodermal changes including @PHENOTYPICFEATURE$, alopecia, and onychodystrophy.	has_symptom
+df30e89e395b3d75910f1116db207aa3b1c327b8	@DISEASE$ (CCS) presents with gastrointestinal polyposis and the triad of cutaneous abnormalities including nail dystrophy, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+78ac395140c7d4314c02f0d7ed28f8c644bbe18a	@DISEASE$ (CCS) is a rare non-inherited disease characterized by gastrointestinal polyposis, chronic diarrhea, ectodermal dysplasia, @PHENOTYPICFEATURE$, hair loss and nail atrophy.	has_symptom
+0f99125972e46a1e0094f67a3315a89329aa294c	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, weight loss, abdominal pain, @PHENOTYPICFEATURE$, dystrophic changes of fingernails, and alopecia.	has_symptom
+e86bd8a85af5a8dcdd6c13f1f89534debfa7869c	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, weight loss, @PHENOTYPICFEATURE$, @DISEASE$, dystrophic changes of fingernails, and alopecia.	false
+2b00577f1fbd2d012d956826253d23904d053569	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, @DISEASE$, weight loss, @PHENOTYPICFEATURE$, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+5956707132dc5a7661426dec46198736ddb33eed	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, @PHENOTYPICFEATURE$, abdominal pain, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+a2c278b0e9e506e0b800262506dd6c6d0cbd3114	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, weight loss, @PHENOTYPICFEATURE$, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+34ffd8ab6ff27d31daf86ea35ac43faff58a42af	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, @PHENOTYPICFEATURE$, abdominal pain, @DISEASE$, dystrophic changes of fingernails, and alopecia.	false
+0ce9b502b4d17023c93679b3049e016b29ac9294	Cronkhite-Canada syndrome is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, @DISEASE$, @PHENOTYPICFEATURE$, abdominal pain, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+1e21db6b13e2069d61991b9681ed3cfbb5e23c0b	@DISEASE$ is a rare disease characterised by diffuse gastrointestinal polyposis, diarrhoea, weight loss, @PHENOTYPICFEATURE$, onychodystrophy and alopecia.	has_symptom
+b320bb5c1d6999547ebceee158a6bd7ce3c17fe3	The case of a 71 year old woman who developed a @DISEASE$ is presented, with generalized gastrointestinal polyposis, @PHENOTYPICFEATURE$, onychodystrophia and alopecia.	has_symptom
+e751527167807e7511c070eed6e03ba5592206f8	@DISEASE$ (CCS) is a syndrome characterised by a constellation of signs including but not limited to onychodystrophy of the finger and toe nails, @PHENOTYPICFEATURE$ and alopecia.	has_symptom
+4cb0c6d9a9c3425a31934b674fac238adb47ade3	@DISEASE$ is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, @PHENOTYPICFEATURE$, and severe cognitive impairment.	has_symptom
+3bd0686a89d5d703c7f85bf9774bd217b5b3cca4	Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to @PHENOTYPICFEATURE$, @DISEASE$/dyskinesia, seizures, and severe cognitive impairment.	false
+1a1da78e2173d536938a36ab1de71e0d361acbb9	Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, @DISEASE$, and severe @PHENOTYPICFEATURE$.	false
+39222e30211cee90e4c5c27166c10724b79a9427	Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, @DISEASE$/dyskinesia, seizures, and severe @PHENOTYPICFEATURE$.	false
+8360f2ed57b6db09a3e090dbc5e1a1eb78ba31b9	@DISEASE$ is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, seizures, and severe @PHENOTYPICFEATURE$.	false
+ac6f26b373fbecfcf47784e1d53871e232b6109a	Pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to @PHENOTYPICFEATURE$, dystonia/dyskinesia, @DISEASE$, and severe cognitive impairment.	false
+b7f6a90fcdd1604427e1ad78052cc831f9a2e26f	@DISEASE$ is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to @PHENOTYPICFEATURE$, dystonia/dyskinesia, seizures, and severe cognitive impairment.	false
+81593e502124eeedf3a605a4b70fae488715102e	Grouped by syndrome, PI was more frequent in adult patients with persistent childhood or @DISEASE$ (JAE, 60%), followed by JME (42.1%) and in a lesser grade in patients with only tonic-clonic @PHENOTYPICFEATURE$ (9%).	has_symptom
+559f0e478fe7bd704f81281036b40708869f03c8	A 13-year-old boy with a three-year history of an illness characterized by stiff hands, arthralgias in the metacarpophalangeal joints, flexion contractures in all fingers, and @PHENOTYPICFEATURE$ over his hands, arms, and thighs had an initial diagnosis of @DISEASE$ with dry synovitis.	has_symptom
+931e68928658263f1d0e8120c2dbaa3ca22818ba	A 13-year-old boy with a three-year history of an illness characterized by stiff hands, arthralgias in the metacarpophalangeal joints, @PHENOTYPICFEATURE$ in all fingers, and thickened skin over his hands, arms, and thighs had an initial diagnosis of @DISEASE$ with dry synovitis.	false
+e551272d729034cae7cc70939404b2b8314fe758	A 13-year-old boy with a three-year history of an illness characterized by stiff hands, arthralgias in the metacarpophalangeal joints, @PHENOTYPICFEATURE$ in all fingers, and @DISEASE$ over his hands, arms, and thighs had an initial diagnosis of juvenile rheumatoid arthritis with dry synovitis.	false
+da70bc6b678964418b70aa16e6042dcf54c57cb4	A 13-year-old boy with a three-year history of an illness characterized by stiff hands, arthralgias in the metacarpophalangeal joints, @PHENOTYPICFEATURE$ in all fingers, and thickened skin over his hands, arms, and thighs had an initial diagnosis of juvenile rheumatoid arthritis with dry @DISEASE$.	false
+86c9c4bcfd4c7ede1059ca6b338765214653aad5	Autosomal recessive polycystic kidney disease (@DISEASE$) is an inherited disorder characterized by enlarged, cystic kidneys with progressive chronic kidney disease (CKD), @PHENOTYPICFEATURE$, and congenital hepatic fibrosis.	has_symptom
+71ecd540d58d9de57a1b2278b3b9d0d7ebb839a6	@DISEASE$ (ARPKD) is an inherited disorder characterized by enlarged, cystic kidneys with progressive chronic kidney disease (CKD), @PHENOTYPICFEATURE$, and congenital hepatic fibrosis.	has_symptom
+124314912e566962967df7215224f997861a62f9	We also discuss the physiology and pathophysiology of SGLTs, e.g., @DISEASE$ and familial renal @PHENOTYPICFEATURE$, and briefly report on targeting of SGLTs for new therapies for diabetes.	has_symptom
+5f47bfe6ef4172151ec9eec8c63c1bb9a7306cb9	It also considers congenital defects of sugar metabolism caused by aberrant expression of the SGLT1 in @DISEASE$ and the SGLT2 in familial renal @PHENOTYPICFEATURE$.	has_symptom
+50e278b5cfb1cd31647f3282b673ea2e4ed85a36	Molecular defects of different transporters of this class cause familial @DISEASE$ and renal @PHENOTYPICFEATURE$.	has_symptom
+ec9be3a84f57d0a0fb336b2d4ed348402bc05c5e	Patients display a plethora of pathologies which include @DISEASE$, familiar renal @PHENOTYPICFEATURE$, thyroid dyshormonogenesis, and distal hereditary motor neuronopathies.	has_symptom
+325606b68234c659f75bc6f4e351c15b616de57c	Mutations in three genes produce genetic diseases (@DISEASE$, renal @PHENOTYPICFEATURE$ and hypothyroidism).	has_symptom
+977c8d4045b7efe7c0d49c6cfb47d31b328f79bc	Glucosuria occurs in diabetes mellitus, generalized proximal tubular dysfunction of Fanconi's syndrome, @DISEASE$ syndrome, and primary renal @PHENOTYPICFEATURE$.	has_symptom
+7836d86895bd71aaa900e0d124983a927fe3530f	Mutations in 3 SLC5 genes produce genetic phenotypes (@DISEASE$, renal @PHENOTYPICFEATURE$ and hypothyroidism).	has_symptom
+a134f9db123e3273190a49664df0b8d177535fdb	An infant with @DISEASE$, absent right pulmonary artery, and systemic blood supply to the right lung presented in severe @PHENOTYPICFEATURE$.	has_symptom
+94c9122395fef439567e9451dc472cafe466c3d4	@DISEASE$ in infancy is a rare condition, presenting with severe @PHENOTYPICFEATURE$ and pulmonary hypertension.	has_symptom
+08cbe4530e1a74114d203d6531fc579db4fa7ca4	@DISEASE$ in infancy is a rare condition, presenting with severe congestive heart failure and pulmonary @PHENOTYPICFEATURE$.	false
+9431459ef506eddfcc9b337861b1bba0ad98f824	Scimitar syndrome in infancy is a rare condition, presenting with severe @DISEASE$ and pulmonary @PHENOTYPICFEATURE$.	false
+3ece06da1348e2dd21d8535e0e00a7a787b63b5f	@DISEASE$ is a rare vascular anomaly that can manifest in childhood with signs of right @PHENOTYPICFEATURE$ and/or recurrent pneumonia.	has_symptom
+c93eead8235590b440e071ff94c426b81634dfa0	@DISEASE$, which involves total or partial anomalous venous drainage of the right lung to the inferior vena cava, is relatively rare and often results in pulmonary hypertension, @PHENOTYPICFEATURE$ and right lung infection.	has_symptom
+de77f538fcbd36e834c8561fd579587f09d4bf58	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/arthralgia and anti-RNP antibodies with @DISEASE$ (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	has_symptom
+cf1171c6d41f226b816f8fbf0426ccd877d1c76a	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with @DISEASE$ (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+676d7370baf1ee29c046d82ec1d7acdb415ddfa8	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @DISEASE$/@PHENOTYPICFEATURE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+06a3891b40cd553e08f4c12c0465f07b0dfca6b6	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+cf6c31077deba27e5e43975cb0e38e120d9c8d3f	Mixed connective tissue disease (@DISEASE$) is a systemic @PHENOTYPICFEATURE$, characterized by the presence of antibodies to U1-RNP protein.	has_symptom
+b86b2bafdcb1a14571ade8b819c739b24c129486	haploinsufficiency exhibit common phenotypic features including @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, and facial dysmorphisms.	has_symptom
+984e04a00c0cae1f4c7b3af75b3a29f178629361	haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f3426944e7a7b395a4d92bfce78c3b3063e464ac	haploinsufficiency exhibit common phenotypic features including @DISEASE$, intellectual disability, speech delay, and @PHENOTYPICFEATURE$.	false
+e55a5ee6d9723d7fb9baa0c25205c581a292504f	haploinsufficiency exhibit common phenotypic features including microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and facial dysmorphisms.	false
+0606d1752b892ac00ebbfca3f3995ce83fa4744f	haploinsufficiency exhibit common phenotypic features including @DISEASE$, @PHENOTYPICFEATURE$, speech delay, and facial dysmorphisms.	false
+71a2253b2b737ce83ba15ff7037af8430d892716	ID, @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$ are the more specific features associated with DYRK1A abnormalities.	has_symptom
+6497eb4dc494a13ea8d42c3c8a7501feaf119b9e	It is clinically characterized by tall stature, @DISEASE$, hypertelorism, congenital abnormalities, and motor and @PHENOTYPICFEATURE$.	has_symptom
+684d6084e5fc7b99ec3171269ec9b9fbbf882ee9	It is clinically characterized by tall stature, microcephaly, @PHENOTYPICFEATURE$, congenital abnormalities, and motor and @DISEASE$.	false
+db42c872a19aa2f57de0ec26479b364b3d8a6690	It is clinically characterized by tall stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and motor and language delays.	false
+160a004b153eff9c32335dc102057e7cf57520b6	It is clinically characterized by tall stature, @DISEASE$, @PHENOTYPICFEATURE$, congenital abnormalities, and motor and language delays.	false
+db521858c6286cb9a14546e02bdfa02bf1be1900	The siblings share some features of Ohdo syndrome, including feeding difficulties, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+25c8e6b96a6c04caa28c13408caaaa5d16b6beac	All patients had convulsion, ataxia, @PHENOTYPICFEATURE$, @DISEASE$ and spasticity.	has_symptom
+338943973ecad2fabf9925c7b3a7f35a99e741db	All patients had convulsion, @PHENOTYPICFEATURE$, speech delay, @DISEASE$ and spasticity.	false
+0aa8352707d9df4f71ef6b387dcdf8aaa6c9bbb4	All patients had convulsion, @PHENOTYPICFEATURE$, @DISEASE$, microcephaly and spasticity.	false
+d5ef8bec0a416310a0749db45c55ce27014fcdd4	All patients had convulsion, ataxia, @DISEASE$, microcephaly and @PHENOTYPICFEATURE$.	false
+f4535ea7827b73b890ba69d71a195fdcebc195d3	All patients had convulsion, ataxia, speech delay, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8a3ae34f9eb5496d206e706e6795251acfddaba1	Other major clinical symptoms in these patients included @DISEASE$, abnormal facial features, motor @PHENOTYPICFEATURE$ impairments, and deformities of the hands and feet.	has_symptom
+54bc21893250406f0d7cf7bd87c2d45005d3b6bc	Other major clinical symptoms in these patients included @DISEASE$, @PHENOTYPICFEATURE$ features, motor delays, speech impairments, and deformities of the hands and feet.	false
+224fe5492223aac9208212eb7e90ee04e1183eb3	Other major clinical symptoms in these patients included microcephaly, @PHENOTYPICFEATURE$ features, motor @DISEASE$ impairments, and deformities of the hands and feet.	false
+bb7269daa1175ff59566b2172ca46aa6809f6594	q21.3), co-segregating with @DISEASE$, @PHENOTYPICFEATURE$, and severe psychomotor retardation in a mother and her two affected boys.	has_symptom
+b59a0019dd7de8553fd85c6f22d30c2b7bff7e8d	All these individuals have intellectual disability with @PHENOTYPICFEATURE$, short stature, @DISEASE$, and aggressive behavior.	has_symptom
+e136ce5b864d2b1eb16e3f7ab69b6ef9030b35fe	All these individuals have @PHENOTYPICFEATURE$ with @DISEASE$, short stature, microcephaly, and aggressive behavior.	false
+4717c5fd975e2ed603be2e5b65d9829fb75b9c63	All these individuals have intellectual disability with @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, and aggressive behavior.	false
+a630dd2f842b8a0c8ad5a2177fac2ef1a0528833	All these individuals have intellectual disability with speech delay, @PHENOTYPICFEATURE$, @DISEASE$, and aggressive behavior.	false
+567a8372eef540d7ecca170ffac078a5900d99b1	All these individuals have @PHENOTYPICFEATURE$ with speech delay, short stature, @DISEASE$, and aggressive behavior.	false
+0fd324bb378c31d47f33be65266369a13dd8c218	However, the child presented here has early onset progressive ataxia, @PHENOTYPICFEATURE$, @DISEASE$, cerebellar atrophy and fundus albipunctatus.	has_symptom
+f956fcbb3ca4e5240bb41181b6815e567002acb1	In all of our patients, dysmorphic craniofacial features, @DISEASE$, thumb abnormalities, psychomotor and @PHENOTYPICFEATURE$ were described.	has_symptom
+469b6680f4d64aafa4491cbc5c81be4eaeea5792	Toxic shock syndrome (@DISEASE$) is an acute, toxin-mediated illness, like endotoxic shock, and is characterized by @PHENOTYPICFEATURE$, rash, hypotension, multiorgan involvement, and desquamation.	has_symptom
+70adb56642fda23050658bc2c147334e74e5b9e0	@DISEASE$ (TSS) is an acute, toxin-mediated illness, like endotoxic shock, and is characterized by @PHENOTYPICFEATURE$, rash, hypotension, multiorgan involvement, and desquamation.	has_symptom
+b17fd2c061888a476b9f480c05938f46310cad97	Toxic shock syndrome (@DISEASE$) is a multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotension, and involvement of three other organ systems.	has_symptom
+5ab30b1a26c0700da10d5dabfd65c1263c8818e1	@DISEASE$ (TSS) is a multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotension, and involvement of three other organ systems.	has_symptom
+b4d06a7d8610b646400256540916726273ae3e20	The patient had all of the defining criteria for @DISEASE$ (TSS), including @PHENOTYPICFEATURE$, hypotension, erythematous rash, desquamation, and involvement of multiple organs.	has_symptom
+9d475ca069331febbf9e648fcf97d57d13234b41	The patient had all of the defining criteria for toxic shock syndrome (@DISEASE$), including @PHENOTYPICFEATURE$, hypotension, erythematous rash, desquamation, and involvement of multiple organs.	has_symptom
+6f1960b3cf3712adf32cd91841cf8b4f1875ceac	@DISEASE$ is a condition characterised by @PHENOTYPICFEATURE$, rash and hypotension, and can be life-threatening.	has_symptom
+703b31a7434af9856626488e81cdf9d2513b5e96	Injection of TSST into animals produces many of the symptoms that characterize @DISEASE$ including shock, @PHENOTYPICFEATURE$, and multiple organ failure.	has_symptom
+a36e23d53c7ed15f9fd0758cb37c0908e10d122f	Toxic shock syndrome (@DISEASE$) is a potentially life threatening condition characterized by @PHENOTYPICFEATURE$, rash, shock, and multi-organ failure.	has_symptom
+44118d971bdba5dfe9baca3d76961c56ca068e44	@DISEASE$ (TSS) is a potentially life threatening condition characterized by @PHENOTYPICFEATURE$, rash, shock, and multi-organ failure.	has_symptom
+fae5b1e1d57e54fab6ffc3b802cdca6221082056	@DISEASE$ (TSS) is an acute toxin-mediated infectious syndrome characterized by @PHENOTYPICFEATURE$, hypotension, desquamation, and multiorgan involvement.	has_symptom
+8f0fc0be55db850b675ce1f9676ad32f5d85bfc0	Toxic shock syndrome (@DISEASE$) is an acute toxin-mediated infectious syndrome characterized by @PHENOTYPICFEATURE$, hypotension, desquamation, and multiorgan involvement.	has_symptom
+d1c5cb10ff5b4588cde408d6e09b40a676d7f727	Toxic shock syndrome (@DISEASE$) is an acute, severe, toxin-mediated disease, characterized by @PHENOTYPICFEATURE$, hypotension, and multiorgan system involvement.	has_symptom
+8ea3e869ad9a029eca865e655c0e05e6d401182a	@DISEASE$ (TSS) is an acute, severe, toxin-mediated disease, characterized by @PHENOTYPICFEATURE$, hypotension, and multiorgan system involvement.	has_symptom
+45716c6b910e42f0ef877b47da172b4e654480f1	It is important to maintain a high index of suspicion for @DISEASE$ in all postoperative patients with @PHENOTYPICFEATURE$, hypotension and erythroderma.	has_symptom
+0479f3b67dac325913b171d14055ff9d9259ce0d	Kawasaki's disease in adults may be mimicked by other acute infections with @PHENOTYPICFEATURE$ and rash, that is, group A streptococcal scarlet fever, @DISEASE$ (TSS), and Rocky Mountain Spotted Fever (RMSF).	has_symptom
+bed832765d6098911dd302b288191a75dc673b0f	Kawasaki's disease in adults may be mimicked by other acute infections with @PHENOTYPICFEATURE$ and rash, that is, group A streptococcal scarlet fever, toxic shock syndrome (@DISEASE$), and Rocky Mountain Spotted Fever (RMSF).	has_symptom
+e48ccb434211061c2a6cbd42c1fd03202f6678a5	Herein, we report a case of a 47-year-old male with an HBV monoinfection, who developed @DISEASE$ and a secondary osteomalacia with multiple @PHENOTYPICFEATURE$.	has_symptom
+99afa32b39e7d3ddcb73e23a955b3eeb7dba7125	For @DISEASE$ bone defects, @PHENOTYPICFEATURE$ in the infraorbital nerve was observed in one patient each of the periosteum-polymer complex and ilium groups.	has_symptom
+d845e31df5ed0e949eac0b14fba69b7c823eda4b	Novel adipose tissue-mediated resistance to diet-induced visceral @PHENOTYPICFEATURE$ in @DISEASE$ mice.	has_symptom
+e46d1f9ff4bcb9b6d95824cdc9c4c7387a0e4413	The diagnosis of @DISEASE$ was suspected at 6 weeks of age when macrocephaly was noted, resulting in the discovery of @PHENOTYPICFEATURE$ and a Dandy-Walker malformation.	has_symptom
+cba115054748d17a2e4ad82d6078fb35cb916eff	The results of the present case and the findings from a review of related data suggest that shunt insertion (ventriculoperitoneal or cystoperitoneal) is an effective palliative measure for patients with @DISEASE$ with associated @PHENOTYPICFEATURE$.	has_symptom
+68b33cbd9c2f82220448e0020f93fa9fe3d27458	Although our patient's neurological status improved following treatment for @PHENOTYPICFEATURE$, there is no definitive therapy for @DISEASE$ and symptomatic patients have a poor prognosis.	has_symptom
+9a72983cf57eb6d4d1cd1a5047ad711a079539ac	Even though patients with @DISEASE$ and @PHENOTYPICFEATURE$ may have normal growth and development after shunt insertion, close follow-up for these patients is still warranted.	has_symptom
+8e46e112d092ae8656208d57fb0ac81cc627c8a3	His brain magnetic resonance imaging study revealed bilateral T1 hyperintense lesions in the cerebellum and in the amygdala, @PHENOTYPICFEATURE$, and a Blake's pouch cyst, consistent with @DISEASE$ and Dandy-Walker malformation.	has_symptom
+afc278d93eab2cb3e95ddb3a938e35944233c83d	A diagnosis of @PHENOTYPICFEATURE$ with malignant @DISEASE$ was made.	has_symptom
+e23478df99a6f454d7a686b5e359008dc910d840	@DISEASE$ has a wide clinical spectrum that includes @PHENOTYPICFEATURE$, epilepsy, cranial nerve palsy, increased intracranial pressure, and sensorimotor deficits.	has_symptom
+6aaa4459ff0410c2f21af78072ab3dc431261883	@DISEASE$ is a rare disorder of the skeleton characterized by facial dysmorphism, @PHENOTYPICFEATURE$, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus.	has_symptom
+fa9e6b957344be3d5e848a3deca8bd1c444a8647	@DISEASE$ is a rare disorder of the skeleton characterized by @PHENOTYPICFEATURE$, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus.	false
+250f7f757a19e60d1a9ee5c52eaee0a5d2aaed78	Steel syndrome is a rare disorder of the skeleton characterized by @PHENOTYPICFEATURE$, @DISEASE$, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus.	false
+d023012100eb6dce21bcf9034e46d0a7252e73a4	@DISEASE$ is a distinct clinical entity characterized by @PHENOTYPICFEATURE$, bilateral hip and radial head dislocation, carpal coalition, scoliosis, cavus feet, and characteristic facial features with dismal results for attempts at reduction of the hips.	has_symptom
+6bc6d5b805f182fbe73505b713b4d960d32f97d0	@DISEASE$: dislocated hips and radial heads, carpal coalition, scoliosis, @PHENOTYPICFEATURE$, and characteristic facial features.	has_symptom
+cbe8c737f673a5e0910bf77582b075d8e6f05716	Patients with @DISEASE$ were studied during episodes of @PHENOTYPICFEATURE$.	has_symptom
+80d1cabefdc21854dd9d8461bed877d7303e4ee4	Medium chain acyl coenzyme A dehydrogenase (@DISEASE$) deficiency presents with episodic fasting, hypoketotic @PHENOTYPICFEATURE$, and coma.	has_symptom
+9387b23a9998647ed6d00cd4f4981bdcc021f047	Two male siblings with @DISEASE$ were reported, in whom the enzyme activity was essentially undetectable and the symptoms and signs, including cyanosis, apnea, low body temperature, @PHENOTYPICFEATURE$ and hyperammonemia, appeared within 48 hours of life.	has_symptom
+9948fdc391110c9d2405187db7ce17b27646ec1a	@DISEASE$ is a recently described inborn error of metabolism characterized by episodes of coma and hypoketotic @PHENOTYPICFEATURE$ in response to prolonged fasting.	has_symptom
+6b4c214f0f95b1665eb07b5d4dee737162df65e7	@DISEASE$ is a recently described inborn error of metabolism characterized by episodes of @PHENOTYPICFEATURE$ and hypoketotic hypoglycaemia in response to prolonged fasting.	false
+9f15f6b69c6fbad553e25dc8a98e3a3a8b44785c	Medium-chain acyl-CoA dehydrogenase deficiency is a recently described inborn error of metabolism characterized by episodes of @PHENOTYPICFEATURE$ and hypoketotic @DISEASE$ in response to prolonged fasting.	false
+e241df727fd5c96f5f4bfbe3e9a6e6a3e544fae4	Medium-chain acyl-CoA dehydrogenase deficiency is a recently described @DISEASE$ characterized by episodes of @PHENOTYPICFEATURE$ and hypoketotic hypoglycaemia in response to prolonged fasting.	false
+db21b03926a378a4480535fe28e0fe169580994b	We report on a favourable case of @DISEASE$ (homozygous 985A > G) that presented as lethargy, poor feeding, pulmonary haemorrhage and cardiac arrest without @PHENOTYPICFEATURE$.	has_symptom
+34a7cdca8d37b4e032b1e397448e1548397a76de	Childhood @PHENOTYPICFEATURE$ (@DISEASE$) affects a child's ability to produce sounds and syllables precisely and consistently, and to produce words and sentences with accuracy and correct speech rhythm.	has_symptom
+3af3a571ff5e320d41a31ae9aa089170964e9e1c	Its homozygous germline inactivation causes @DISEASE$, a severe genetic disorder characterized by @PHENOTYPICFEATURE$, impaired fertility and highly elevated cancer risk.	has_symptom
+83b5d875cca53ba16dd275a02b5f1b1789c6eb25	We present a case of @DISEASE$ with a chromosomal study in a Mexican five-year-old patient who presented @PHENOTYPICFEATURE$, narrow facies with poikiloderma, caf?-au-lait, macules and photosensitivity.	has_symptom
+ecb638e868b002c43431e64bb823f41407f721eb	Mutations in the BLM gene cause human @DISEASE$ (BS), an autosomal recessive disorder of @PHENOTYPICFEATURE$, immunodeficiency and cancer predisposition.	has_symptom
+6b015462c77b531ddf84a596f104b2529cd44609	@DISEASE$ is a rare genodermatosis characterized by photosensitivity, telangiectasias, @PHENOTYPICFEATURE$ and malignancies.	has_symptom
+2df8800005bf4b53127e72a7f3d56f4bf84e8a64	An intracranial cell squamous carcinoma was found in a 27-year-old Mexican woman with @DISEASE$ (BS), including @PHENOTYPICFEATURE$, sun-sensitive telangiectatic erythema, defective immunity, and increased number of mitotic chiasmata and sister chromatid exchanges.	has_symptom
+f6ae8b815a8195f28ee6d70250e0d2113b6e0f93	We are reporting @DISEASE$ in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and @PHENOTYPICFEATURE$.	has_symptom
+1f31499e6ad1a1c0c8521cb5429a100715c648da	Children with @DISEASE$ have significant @PHENOTYPICFEATURE$ and wasting.	has_symptom
+770c0dcffcbe92ddc236c4a544f5bab8d51ae3f7	@DISEASE$ is an autosomal recessive disorder caused by mutations in the RecQ family helicase BLM that is associated with @PHENOTYPICFEATURE$ and predisposition to cancer.	has_symptom
+cb483ba7455e135f907e44ad260b216416c7c103	Biallelic mutations in BLM cause @DISEASE$ (BS), a genome instability disorder characterized by @PHENOTYPICFEATURE$, sun sensitivity and a predisposition to cancer.	has_symptom
+eb387017af8e456f4c94f0152a79b5b8875b7412	A case of @DISEASE$ with multiple keratocysts, cleft lip and @PHENOTYPICFEATURE$, calcification of the falx cerebri, and late appearance of basal cell carcinoma is described.	has_symptom
+5ba00087a74f1b51e29f0ac80dea5c45419f49f9	We report a child with @DISEASE$ (NBCCS) who showed an enlarged head circumference and cleft lip/@PHENOTYPICFEATURE$ as sole signs of this syndrome at birth.	has_symptom
+a810d14651c684ee9611aa4041e769d9b91a0d75	We report a child with nevoid basal-cell carcinoma syndrome (@DISEASE$) who showed an enlarged head circumference and cleft lip/@PHENOTYPICFEATURE$ as sole signs of this syndrome at birth.	has_symptom
+4a5d271cce0c485dc41c12d94205301c1810b354	The @DISEASE$ associated with cleft lip and @PHENOTYPICFEATURE$: report of case.	has_symptom
+358daa46d016d0c716e785b1a77e8a56d4a98f80	Lymphadenopathy and osteoblastic lesions are rare presentations of @DISEASE$ - @PHENOTYPICFEATURE$ in 1% of cases with IgA subtype and osteoblastic lesions in IgE myeloma and lambda light chains.	has_symptom
+0a91a51e75510a26bfa26ea4d091acae2992c788	We present the case of a 42 year old Hispanic woman with past history of erythema nodosum who presented with 3 weeks of nausea, emesis, constipation, asthenia, adynamia, polydipsia, and somnolence, concomitant with hypercalcemia, but normal parathyroid hormone (PTH) and 25-hydroxyvitamin D. Initial diagnostic approach was based on the suspicion of @DISEASE$ or bone metastases; however, further findings of bilateral hilar @PHENOTYPICFEATURE$, elevated serum angiotensin-converting enzyme (ACE) and a right inguinal lymphadenomegaly suggested an alternate cause.	has_symptom
+e73cbf7f82a3e17c414eb3d3da63c31e0bdadd25	@DISEASE$ represents a spectrum of clinical and radiographic irregularities including abnormal vertebral segmentation or formation defects, rib deformities, and @PHENOTYPICFEATURE$.	has_symptom
+06ca76eac40d4100465520cf43c00d87a3ef15ba	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	has_symptom
+6aecd4ded00c1b9f8883b929437a0b7ba480bdae	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or @DISEASE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+6ccbcc66348e819fb28d8be9d0156d217e086ea2	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+bd0c8ac8f5e67f6e1c827a92899dc7ca8f1d0ac5	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+1a03e94e50b1e33e3d160b42ff50b57e1b56115d	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple @DISEASE$.	false
+c294b9b1349ce15df74b69f28915672fed9a007d	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+092999376686f2283fae17d54c407af702b7b1c8	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+9ad18188fca12b8e848c7423481d426183bffa1d	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive @DISEASE$ characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+ae1ba27afbb08d58bcb98e5109298d91a2728a44	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple @DISEASE$.	false
+aad2f7a590752707f9c0ff7bf9bfcde8b868182c	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or @DISEASE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+96c43b44a27dca897c53c3bf03a15eeab8a30ee0	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+f55bc04a83c2db8868fcd3e97d7057478307bc10	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	has_symptom
+391b8a77033b3ca8a27aa5a02de68d927c33a202	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+14ce6eb37efd4d47edad2c299f80dcfd83f7532d	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+d1bdbbf95602884c6c62f8146853760e9bff0972	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, @DISEASE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+593ead2be338cea20b9d392b1a6cbb6f4fd2933b	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+53ae7d9dd6bcb284d0b14e7a5a1e576e9a9c94da	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, @DISEASE$, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+a9806fc0bddcd606d9a7fd0e63925ea7461caa4e	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive @DISEASE$ leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+2b141f9df90f47bed8dcd5bd9b7c2a752f497ca1	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+0529598bbb14af07ac0964d4be7f16637d980f9f	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive @DISEASE$ leading to brain atrophy with calcification, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+4b0619fd037beb1620c27d4a801b770b634c124c	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+752c3f4fc6740841083bed8867ba6c5e46f4278e	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, @DISEASE$, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+7c9e3761133b07e015de6160e6d0a3039133bf13	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive @DISEASE$ leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+77e224a7ac4ee4e3c4f63fecf92bc8991974dea9	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+5daa03db960a15a5ecafa6a432735008fefdd572	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1524a17790cfda5defb4618bfa5098d9b25675ae	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+4510ac59597f5523250429c713aefded09247406	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+523fdc45c7801dbd04e343473e32bd4af7f52f0c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e15a09993e79b694de2c5f76267b89bfe36fca08	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+067d83acedb309fd61064770abf7db4a917313e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+71476b525a9a0b7832e30f44f04b67821f3d12a4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+312e821121bb15d7c50b1574deeb5b936c932045	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+1a059dc6b367b4db9018e75ed6386b7fb97803e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+b941a4707a39047cc049bc4f9507e20162c96269	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+3252e5b77401d7c73e97fb8681166d3c8e8968da	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+a49cccf72ed22ad18db25be58f049063683b83bc	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+67dd052b36c78a397c8a82d49e0ffc7395fd5e6b	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+bcaba964b378238bab32a5704d35e5141d8596b9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d4addaf946983c99020bdc22a80aff4b30c34cef	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+50534e0d73e98d4b479d42873cfb589e342cca41	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+19282222d10763878a15c165b502adf045dcff06	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (@DISEASE$) CS-like syndrome with joint contractures, @PHENOTYPICFEATURE$, and early death.	has_symptom
+59090b54d42574ddc0a148103aa992152bbaed9b	CSB or @DISEASE$ can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+9c7105e2cf905d4f1029803ac16de0a184b50f43	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (@DISEASE$) CS-like syndrome with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+7014da0e97ec490cf60252c102a25d3c5d2f56da	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like @DISEASE$ with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+88f665cc6af7cfadac1a945e9719ef42a39d5726	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with @PHENOTYPICFEATURE$, @DISEASE$, and early death.	false
+adaf6aac7fa1320a9147ab72b47d808d75e6eee0	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	has_symptom
+6628a1b6c4013b047c2bc2f2a40d81f0f621d324	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+68911ace5b983d03abef98e72d000205dbe83452	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+324600579c84722047acf845d467649697738f81	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, @DISEASE$, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+114b951ca7de3ec01371e63c1f3273c1ba8b5cd6	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+1527d138735f4d3af03fa8596d6757448f172621	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive @DISEASE$ leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+1b507aa235afdc50f95c87fdb0eba472c952c620	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, @DISEASE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+585537f7c6d9a33d71cfa516d8fe3006a4de3abe	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+79d50a0cf2371f19110423b67a7e0d66369fa28a	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive @DISEASE$ leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+9c49f63d64acdc9eb58d4f01c194f0fe40b52c1f	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, @DISEASE$, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+da39af0d8da11a9899cc005b78867cdd88384bde	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive @DISEASE$ leading to brain atrophy, with calcifications, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	false
+6921d3c61f8b930f395b5258c82af8ca8543fe7b	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+46a96869b93f2c4e03cb4ea440846a6dbedf1dfa	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+6267099c67f4ce534eb326a49ef48907856c9474	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, @DISEASE$/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and @PHENOTYPICFEATURE$.	has_symptom
+8a003027a793d5ac1706522e0a5836ee826b515a	Prenatal observation of nystagmus, @PHENOTYPICFEATURE$, and brain abnormalities in a case of @DISEASE$ syndrome.	has_symptom
+5b88cff1aa2a80ea08467b77905bc6b152ea4e97	The investigation of C26:0-lysoPC should be included in the diagnostic work-up in patients with @PHENOTYPICFEATURE$, hearing loss, and leukodystrophy on MR images suspected to suffer from @DISEASE$.	has_symptom
+dce2078e10c62d9b1d501eb3ef0796deefc3b636	High-resolution MR of the inner ear performed in 3 consecutive pediatric patients affected by @DISEASE$ (dRTA) and progressive sensorineural hearing loss (SNHL) revealed @PHENOTYPICFEATURE$ (LVA) (bilateral in 1 case and unilateral in 2).	has_symptom
+98e481319bef2019cfd98264a77872e6ba1b1a3e	High-resolution MR of the inner ear performed in 3 consecutive pediatric patients affected by @DISEASE$ (dRTA) and progressive @PHENOTYPICFEATURE$ (SNHL) revealed enlarged vestibular aqueducts (LVA) (bilateral in 1 case and unilateral in 2).	false
+b7fe710210efb534b995df86ca0c59b678132a02	High-resolution MR of the inner ear performed in 3 consecutive pediatric patients affected by distal renal tubular acidosis (dRTA) and progressive @PHENOTYPICFEATURE$ (SNHL) revealed @DISEASE$ (LVA) (bilateral in 1 case and unilateral in 2).	false
+d1a0f366be8e6e6afe0ef7db1a89345425365340	The case is presented of a 2-day-old male child in whom ectropion, @PHENOTYPICFEATURE$, hypertrichosis and other dysmorphic features led to the clinical diagnosis of @DISEASE$, which was later confirmed with genetic tests.	has_symptom
+dc30e327d3e8892296c58edcf38b6cd7d594810b	Sweeney-Cox syndrome, @DISEASE$, and ablepharon-macrostomia syndrome share the facial features of ablepharon, @PHENOTYPICFEATURE$, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth.	has_symptom
+edeac03213d12d1ec5a39a73bfe6a508e34a38b5	1.5 channel, and on a channel mutant (R1623Q) associated with lethal @PHENOTYPICFEATURE$ in the @DISEASE$ (LQT3).	has_symptom
+368cb7d8f228a8cb40989c94a656305a6d0fb43c	@DISEASE$ and adnexal @PHENOTYPICFEATURE$: causal or casual association?	has_symptom
+c13dea70d383c7cf4bdc0098a17ad8f7862eefd5	@PHENOTYPICFEATURE$ is observed in approximately 30% of surviving @DISEASE$ patients, an attack rate that is approximately 300% higher than mumps virus infection, which was previously thought to be the most common cause of virus-induced deafness.	has_symptom
+3872b9179366632e0716163192889f2b65e16a75	Deafness is observed in approximately 30% of surviving @DISEASE$ patients, an attack rate that is approximately 300% higher than mumps virus infection, which was previously thought to be the most common cause of virus-induced @PHENOTYPICFEATURE$.	has_symptom
+65a6ff4733e9f0c0ac7040d07a6a7e80a6d3f3a6	Here, we provide evidence from Lassa virus-infected cynomolgus macaques implicating an immune-mediated vasculitis syndrome underlying the pathology of @DISEASE$-associated @PHENOTYPICFEATURE$.	has_symptom
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+3085553efa20c112199509c31643dc6e82991508	@DISEASE$ consists of hydrocephalus, polydactyly, @PHENOTYPICFEATURE$, midcranial malformations, visceral abnormalities and perinatal lethality.	has_symptom
+dfce422623fbab4985ea1014c5fb7ed52cab84f6	@DISEASE$ consists of @PHENOTYPICFEATURE$, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+b76a2be189cd7094f664e91268e674b85f910b56	@DISEASE$ consists of hydrocephalus, @PHENOTYPICFEATURE$, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+6ae1137339a8955c399a969b90ae537ce4485e34	Hydrolethalus syndrome consists of @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+4173240a84ffb9bba7e49c03042ab2afd5fef53a	Hydrolethalus syndrome consists of hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+b14495b47e709d366c2f56f87cd46e6b923112e2	@DISEASE$ (HLS) is a severe fetal malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, @PHENOTYPICFEATURE$, defective lobation of the lungs and polydactyly.	has_symptom
+99aaf07ccf33506d433cb067585d2ae289ff520a	Hydrolethalus syndrome (HLS) is a severe @DISEASE$ malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, micrognathia, defective lobation of the lungs and @PHENOTYPICFEATURE$.	false
+dbde0d541ba4f390a6d17b9de156104501b97685	Hydrolethalus syndrome (HLS) is a severe fetal @DISEASE$ characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, micrognathia, defective lobation of the lungs and @PHENOTYPICFEATURE$.	false
+7128b7bc87f72df3d4ac8ab79084e463d43ec5a9	@DISEASE$ (HLS) is a severe fetal malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, micrognathia, defective lobation of the lungs and @PHENOTYPICFEATURE$.	false
+6d172896a221cc9024b50894f8fe08169a777721	Hydrolethalus syndrome (HLS) is a severe fetal malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, @DISEASE$, defective lobation of the lungs and @PHENOTYPICFEATURE$.	false
+d4b24c1acf3961db6bbb1765a0bbf6cad7caafa8	@DISEASE$ is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, @PHENOTYPICFEATURE$, polydactyly, and several other abnormalities, mostly in the midline structures.	has_symptom
+b3af7df752d6bb370c8a6217b15d4e5cd79cd398	Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, @DISEASE$, @PHENOTYPICFEATURE$, and several other abnormalities, mostly in the midline structures.	false
+289b8595804c54d695b625e5170a9ef183b99598	@DISEASE$ is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, @PHENOTYPICFEATURE$, and several other abnormalities, mostly in the midline structures.	false
+26d7e321bd4ffa8d3d626d77ab828bfe5f05ec28	Hydrolethalus syndrome is a recessively inherited lethal @DISEASE$ characterized by hydrocephaly with absent midline structures of the brain, micrognathia, @PHENOTYPICFEATURE$, and several other abnormalities, mostly in the midline structures.	false
+189d767e0d3085f8b89d396ede5b34faa69e6481	@DISEASE$ may comprise mainly hydrocephalus, polydactyly, @PHENOTYPICFEATURE$, congenital cardiac and respiratory anomalies and uniform lethality.	has_symptom
+751c60ad2cc58e4dbd72c75ba60663901b09b13e	@DISEASE$ may comprise mainly hydrocephalus, @PHENOTYPICFEATURE$, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality.	false
+292409dbb134c7c93ba0fd05e1493c93ac520530	Hydrolethalus syndrome may comprise mainly @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, congenital cardiac and respiratory anomalies and uniform lethality.	false
+25f3367aa46e870b0afd0d916781b83a5f6e249e	Hydrolethalus syndrome may comprise mainly hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, congenital cardiac and respiratory anomalies and uniform lethality.	false
+0a0812f86ddaf7b5541d856128ac5435aad00a5b	@DISEASE$ may comprise mainly @PHENOTYPICFEATURE$, polydactyly, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality.	false
+0f2c18e175e30ff0819bf1fe1467248de9feabeb	@DISEASE$ is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, @PHENOTYPICFEATURE$, and polydactyly.	has_symptom
+a68420c9606b5f04ba6374b65408ad2020fcad19	@DISEASE$ is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, micrognathia, and @PHENOTYPICFEATURE$.	false
+887ba51d4b85bc4b21f4a7d368397648ebed3c9b	Hydrolethalus syndrome is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, @DISEASE$, micrognathia, and @PHENOTYPICFEATURE$.	false
+80b6a4af259fa8555e49bc61131f7b2a1f9fc706	Hydrolethalus syndrome is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5b4e7c035399ea8c4b256b9ab13946b814996f54	@DISEASE$ (HCC) suffers high @PHENOTYPICFEATURE$ recurrence rate after thermal ablation.	has_symptom
+fe9fb2dfe38940d3b48c97f7d5fb1857d61def24	Hepatocellular carcinoma (@DISEASE$) suffers high @PHENOTYPICFEATURE$ recurrence rate after thermal ablation.	has_symptom
+0e20a702c582ae1509334799dbe05f8e55afbc22	[@DISEASE$: @PHENOTYPICFEATURE$ or peritumoral disease?].	has_symptom
+d6c24b6de15e7b7c0dd2ba60c0b093f04a7246e4	@DISEASE$ (HCC) @PHENOTYPICFEATURE$ spread is partly dependent on neoangiogenesis.	has_symptom
+6f345d70e1934555c815ea447fced4d3f4e927ba	Hepatocellular carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ spread is partly dependent on neoangiogenesis.	has_symptom
+4a2cd6dbfcb7e179519b47057d65d0b0febceae5	@DISEASE$ (HCC) is a @PHENOTYPICFEATURE$ with rather bad prognosis.	has_symptom
+5de3dca02060228e2649a9b1182f627d7e3d8d8d	Hepatocellular carcinoma (@DISEASE$) is a @PHENOTYPICFEATURE$ with rather bad prognosis.	has_symptom
+8a16976b934151fba593ab22b67d3befd009c646	Histological examinations revealed 43 well-differentiated @DISEASE$ tumors, 273 moderately differentiated HCC tumors, and 38 poorly differentiated HCC @PHENOTYPICFEATURE$.	has_symptom
+d49e0bae4fef8a83dd2b4d093c95c255d80c8149	Histological examinations revealed 43 well-differentiated HCC tumors, 273 moderately differentiated HCC tumors, and 38 poorly differentiated @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+a9ba2601667d93d99d5cbbf4ed0320bd99562567	Histological examinations revealed 43 well-differentiated HCC @PHENOTYPICFEATURE$, 273 moderately differentiated HCC tumors, and 38 poorly differentiated @DISEASE$ tumors.	has_symptom
+741661f3c8fb514bff834d2405b4a71193184143	Histological examinations revealed 43 well-differentiated HCC tumors, 273 moderately differentiated @DISEASE$ tumors, and 38 poorly differentiated HCC @PHENOTYPICFEATURE$.	has_symptom
+388a8e3edba0686b4c923b5eccd190bd7b7fa1b5	Histological examinations revealed 43 well-differentiated HCC tumors, 273 moderately differentiated HCC @PHENOTYPICFEATURE$, and 38 poorly differentiated @DISEASE$ tumors.	has_symptom
+248c346ce4eaa461f3cf872a8f01125d5b22895f	Histological examinations revealed 43 well-differentiated @DISEASE$ tumors, 273 moderately differentiated HCC @PHENOTYPICFEATURE$, and 38 poorly differentiated HCC tumors.	has_symptom
+739df8ae1f0db3d51250a378d82fc86bffbb31cb	Histological examinations revealed 43 well-differentiated HCC @PHENOTYPICFEATURE$, 273 moderately differentiated @DISEASE$ tumors, and 38 poorly differentiated HCC tumors.	has_symptom
+da6bfabb2d840a0e8b2a8a329f03cf0de42a5568	Histological examinations revealed 43 well-differentiated @DISEASE$ @PHENOTYPICFEATURE$, 273 moderately differentiated HCC tumors, and 38 poorly differentiated HCC tumors.	has_symptom
+1818147fb8fb93ada7cd009b88f4315e3a09a1c5	Histological examinations revealed 43 well-differentiated HCC tumors, 273 moderately differentiated @DISEASE$ @PHENOTYPICFEATURE$, and 38 poorly differentiated HCC tumors.	has_symptom
+4a2fbf76195a6ce365abbf1f99c5429d2c1c0edd	in @DISEASE$ @PHENOTYPICFEATURE$ tissues.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+f3b940c1e6dd5cb4ddaa64ee858cc8f29ee7172d	@DISEASE$ @PHENOTYPICFEATURE$ tissues.	has_symptom
+df6746421cd37558b28dbefa24da8da2de6f5ee8	cm unresectable @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+6ae73f8cf7f1278c4054fe189cd8827997e90b76	Other common features include @PHENOTYPICFEATURE$, strabismus, nystagmus, @DISEASE$ and dysmorphic facial features.	has_symptom
+0f578c92dc50dd76fdcece00f7f90fe53d14b024	Other common features include seizures, strabismus, nystagmus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+26083799eb11cfc9082afa67b8fa0c7a308ecca4	Other common features include @DISEASE$, strabismus, nystagmus, cortical visual impairment and @PHENOTYPICFEATURE$.	false
+fcfc5845e97ed670d3762d8da0f10a7f3c862bb4	@DISEASE$ can be associated with generalized and partial onset @PHENOTYPICFEATURE$, particularly those involving the occipital lobe.	has_symptom
+48797cd267733b12e66ec368651637114e0a1383	The absence and degree of macular abnormality, retinal abnormality, optic nerve hypoplasia, optic nerve atrophy, @DISEASE$, developmental delay, cerebral palsy, @PHENOTYPICFEATURE$, and nystagmus were noted.	has_symptom
+5f8ca1bba8af5fdd38c9ed9acede4db8e2a73fa3	The absence and degree of macular @PHENOTYPICFEATURE$ abnormality, optic nerve hypoplasia, optic nerve atrophy, @DISEASE$, developmental delay, cerebral palsy, seizures, and nystagmus were noted.	false
+38bf77bf5a26a3677b95bd173fb606644b96dd79	The absence and degree of macular abnormality, retinal abnormality, optic nerve hypoplasia, @PHENOTYPICFEATURE$, cortical visual impairment, developmental delay, cerebral palsy, @DISEASE$, and nystagmus were noted.	false
+64ac9431dc07cca92ac1e6db2e08248856f05791	The absence and degree of macular @PHENOTYPICFEATURE$ abnormality, optic nerve hypoplasia, optic nerve atrophy, cortical visual impairment, developmental delay, cerebral palsy, @DISEASE$, and nystagmus were noted.	false
+16ee456b0e8e209c631feb7e64b1cde0154872fc	The absence and degree of macular abnormality, retinal abnormality, optic nerve hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, cerebral palsy, seizures, and nystagmus were noted.	false
+d6c8608e4eaf2ea62b69f6d0b3046cb43dba0a6b	He also was discovered to have @DISEASE$, which slowly resolved following termination of @PHENOTYPICFEATURE$ activity.	has_symptom
+214a42c49f12ab4badce21d580ebe718dc2795c3	deletion in a 6-year-old girl with significant global developmental delay, severe hypotonia, @DISEASE$, staring spell @PHENOTYPICFEATURE$, and abnormal electroencephalogram.	has_symptom
+0f09f2c66efcffb4fa51dbd8886315063f552ad7	The commonality among the cases was the presence of suspected @DISEASE$ with @PHENOTYPICFEATURE$ and developmental delay.	has_symptom
+2137eeadaaafc92a5a8704b8f718d3de4084c105	Transient @DISEASE$ is a common aura of occipital lobe @PHENOTYPICFEATURE$.	has_symptom
+90608fc7820750b3878f5c64f7cd6ebf4313a259	We sought to (1) provide a description of @PHENOTYPICFEATURE$ types in patients with CDD, (2) provide an assessment of the frequency of seizure-free periods and @DISEASE$ (CVI), (3) correlate these features with genotype and gender, and (4) correlate these features with developmental milestones.	has_symptom
+f8931b68ae71824572dda2062983def897ff1129	We sought to (1) provide a description of seizure types in patients with CDD, (2) provide an assessment of the frequency of @PHENOTYPICFEATURE$-free periods and @DISEASE$ (CVI), (3) correlate these features with genotype and gender, and (4) correlate these features with developmental milestones.	has_symptom
+afe31128ba70d36409461288fe057f2537e8344a	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	has_symptom
+b2ec38f7571d49c459d8a49d286f2e7b0fd1dec7	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, @PHENOTYPICFEATURE$, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+8b5991706729aa394bcf7466e596efc0003a8c8c	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+c18f4827f6e8d1697f5fd265c1b3a4870b0eb167	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @PHENOTYPICFEATURE$, hypotonia, spasticity, @DISEASE$, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+474a913e0a7bbf82997d1a489dac9800a52c4ed0	Using whole-exome sequencing, we have identified in ten families 14 individuals with @PHENOTYPICFEATURE$, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+206443428f1a01cb117038a967fcf499bd7cbd0e	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, @DISEASE$, @PHENOTYPICFEATURE$, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+1400da22bd95b2fbe066ff5bc822320481e6498b	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, @PHENOTYPICFEATURE$, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+4c8909fc3c6c1be1cab9196f36ba71231b5f1d8d	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @PHENOTYPICFEATURE$, hypotonia, spasticity, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+6ebaf8aeaa727a5803a96c9eba71fce2ed7ee4f0	Using whole-exome sequencing, we have identified in ten families 14 individuals with @PHENOTYPICFEATURE$, developmental delay, intellectual disability, hypotonia, spasticity, @DISEASE$, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+41edf36618dc31a41e031ea42bb82cc3fae0f7c9	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, @PHENOTYPICFEATURE$, @DISEASE$ and microcephaly.	has_symptom
+fd8cd09e53eebdeebb3b98bc3b7e86597f8cc8eb	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+53f832cf7e17dd3a983a9d49d62388a5ee8dc420	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, cortical visual impairment and microcephaly.	false
+d48f9ab8d92b7ef4d4ad3bdb17576c157b55c0d1	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, @DISEASE$, cortical visual impairment and @PHENOTYPICFEATURE$.	false
+74a9a908c563ce71c917dd81493fde15ef30ca1b	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, @PHENOTYPICFEATURE$, seizures, @DISEASE$ and microcephaly.	false
+aa2a41ded6b28a62beaf34dc3565a0ddce3fc019	In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with renal failure, but causes severe osteopenia and @PHENOTYPICFEATURE$, thus raising the hypothesis of a specific underlying bone defect in @DISEASE$.	has_symptom
+52b65fbb2a30fb70a50086790ecd8fa44bf5ba58	In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with @PHENOTYPICFEATURE$, but causes severe osteopenia and @DISEASE$, thus raising the hypothesis of a specific underlying bone defect in cystinosis.	false
+f9c49582355b61b28d2b784704d14c13a1407cd7	In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with @PHENOTYPICFEATURE$, but causes severe osteopenia and growth retardation, thus raising the hypothesis of a specific underlying bone defect in @DISEASE$.	false
+deee0df61efc08232a4c1f60fefa9799defe3467	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterised by a clinical phenotype that includes short stature, skull deformities, osteosclerosis, acroosteolysis and bone fragility.	has_symptom
+e609e25e67aa5e67474877796350e977ee3fe953	Pycnodysostosis is a rare @DISEASE$ characterised by a clinical phenotype that includes @PHENOTYPICFEATURE$, skull deformities, osteosclerosis, acroosteolysis and bone fragility.	false
+dddd5acfc691bc64bad094eb47baec16ccbd968f	@DISEASE$ is a rare skeletal dysplasia characterised by a clinical phenotype that includes @PHENOTYPICFEATURE$, skull deformities, osteosclerosis, acroosteolysis and bone fragility.	false
+79136276cc4aa70f7fdfcbcf1c8b17ccf00a3f04	@DISEASE$ is an autosomal recessive sclerosing @PHENOTYPICFEATURE$ of unknown aetiology which is inherited with complete penetrance.	has_symptom
+55696dca214524cd5c22103d35104d63e4c75e0f	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by short stature.	has_symptom
+d7cd30207f4f9d2bea08ce92dbb132ef0f39649c	Pycnodysostosis is a @DISEASE$ characterized by @PHENOTYPICFEATURE$.	false
+64c11f1081c8d255594caf5ec4df4320b56f1846	@DISEASE$ is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$.	false
+9f4cf1ffc579de303d046dfb7891116b27300d52	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$, the prevalence of which is estimated to be low (1 per million).	has_symptom
+71ab0eb977fa35a4bde06faab60402b20a038f6a	@DISEASE$ is a lysosomal autosomal recessive @PHENOTYPICFEATURE$ characterized by osteosclerosis, short stature, acro-osteolysis, facial features and an increased risk of fractures.	has_symptom
+161791d28c558be9ec2fd0cc2aad2dbce71fb2de	Pycnodysostosis is a lysosomal autosomal recessive @DISEASE$ characterized by osteosclerosis, @PHENOTYPICFEATURE$, acro-osteolysis, facial features and an increased risk of fractures.	false
+8c16145ee20daa0de7a028ff3423fcffb488304e	@DISEASE$ is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, @PHENOTYPICFEATURE$, acro-osteolysis, facial features and an increased risk of fractures.	false
+0d29659571d96173257bd624c40cead8b74981fe	Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, @PHENOTYPICFEATURE$, acro-@DISEASE$, facial features and an increased risk of fractures.	false
+eee6e323a8b543767eb9ed82e7759d076fc7cb23	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities.	has_symptom
+ffd4047e14cb64949870afbf9ee33b7227784a45	@DISEASE$ is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities.	false
+26ca2ddd611e080e614d402507c963bf7240be23	Pycnodysostosis is a rare autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities.	false
+fb5fb25165e82cb3f1fdbca9562d43bfce87e027	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities.	has_symptom
+7e32678d21d642a95b109ac1dd95eaf7660f0c38	Pycnodysostosis is a rare autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities.	false
+1793b8e126085de4ecb7459937e41818894b4c29	@DISEASE$ is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities.	false
+61cdb29f560f115824700e9e58db53be7312b8ac	@DISEASE$ is congenital osteosclerotic @PHENOTYPICFEATURE$ of a rare entity.	has_symptom
+057894079c418cdd85833e9b71f68c90571c7975	@DISEASE$ is a rare autosomal, recessive, @PHENOTYPICFEATURE$ caused by a mutation in the cathepsin k gene.	has_symptom
+6eeebb97d78851fcea8f04b5f504dbf01e464727	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, osteosclerosis, acroosteolysis, bone fragility, and skull deformities.	has_symptom
+44cef3f6553b56778637d812ff3783b320c345f6	@DISEASE$ is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, osteosclerosis, acroosteolysis, bone fragility, and skull deformities.	false
+398905576b8a1f90a5433561052cd29e4887b5ef	Pycnodysostosis is a rare autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, osteosclerosis, acroosteolysis, bone fragility, and skull deformities.	false
+2982ebf45f77d44e86e33918156da26d6abe5ad0	@DISEASE$ is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull abnormalities, @PHENOTYPICFEATURE$, and acroosteolysis of the distal phalanges.	has_symptom
+44375657a8ba64c77011ba75d36686b4acfe2dde	@DISEASE$ is a rare disorder characterized by @PHENOTYPICFEATURE$, joint hypermobility, distinctive craniofacial and skull abnormalities, dental anomalies, and acroosteolysis of the distal phalanges.	false
+87215c4ac5098b438eec10120e04ef9a603223e7	Hajdu-Cheney syndrome is a rare disorder characterized by @PHENOTYPICFEATURE$, joint hypermobility, distinctive craniofacial and skull abnormalities, @DISEASE$, and acroosteolysis of the distal phalanges.	false
+c96af57ac79ea24ffccc6be2cb9ac7065ee78e3b	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	has_symptom
+b1f58eb9d59f97231f3b8a839799ec4626e295f5	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with @DISEASE$-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+7b1bba4eb0ea090fcf29544fd455089cf3d7a3e9	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and @DISEASE$.	false
+20f671bd1de8ae84c67f48b5cabd7e0b1b6763f6	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+a38aa4799fc2dd1e46cf5c9ac8f88b96ba6ee205	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, @DISEASE$, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+42f91226db6a3ade0e3daaeca4b09432b44aa3c9	Hajdu-Cheney syndrome (@DISEASE$) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+e5613ad4834372eea9975fea76e18eddc273b26e	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with @DISEASE$-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+fc838e8ac144d1126ba62b95597d7a874b19eca1	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+eb296a8a2ea672cda14ee24408b849f0fcd53728	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, @DISEASE$, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+658532e381db7e34994795bc26cfad01907be763	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+a197d6b6f9f9edad5527176052ac8a0d46582f64	Hajdu-Cheney syndrome (@DISEASE$) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+bb47169ffda9e8275b2db6cbf0bdcce5a0dc3d1a	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-@DISEASE$ and osteoporosis.	false
+54f06bc6c38e01fdce8b395cbb6af01b472f8bc2	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, @DISEASE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+1fe8e6d193e17d1028c6ce104432c950d65f5ef8	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and @DISEASE$.	false
+700e8825f9fbed53ecc3cd4983c594681653da8f	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-@DISEASE$ and osteoporosis.	false
+07e57e39a25fdcc5352dd870cd5a65f9f2defae0	@DISEASE$ is a slowly progressive disease with a frequently unfavourable prognosis in elderly patients, especially for the development of @PHENOTYPICFEATURE$, osteoporosis and the progression of skeletal complications requiring orthopedic surgeries.	has_symptom
+6c718f5d917cabc3d331645318b23fa776369c46	@DISEASE$ is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, @PHENOTYPICFEATURE$, and proportionate short stature.	has_symptom
+0d88053200823cd3413513be04ecd14346d4d6c2	@DISEASE$ is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and @PHENOTYPICFEATURE$.	false
+1f44dcc1b2677d544077e069539d408f05b14e9f	Hajdu-Cheney syndrome is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2851ea767f2cc346f3a17ad62be7268cd40c7828	@DISEASE$ (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, @PHENOTYPICFEATURE$, and proportionate short stature.	has_symptom
+7fb8bd7de9c4cb0d3a7d0b70725a8520c5882448	Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c9569481b468a829ed59e15e2213701503143f1e	Hajdu-Cheney syndrome (@DISEASE$) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and @PHENOTYPICFEATURE$.	false
+d84bf2e191ded6325b08bdae8dde7d8ecc0457d4	@DISEASE$ (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and @PHENOTYPICFEATURE$.	false
+c60746c9015ced4ffb0ef6787ff8466269fb07a4	@DISEASE$ is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, @PHENOTYPICFEATURE$, and a proportionate short stature.	has_symptom
+bcb3b78e54659167a2dc23ed940f6e66249b54da	Hajdu-Cheney syndrome is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, @DISEASE$, and a @PHENOTYPICFEATURE$.	false
+540e60ce030f27af27c832c02f41995b8eb55253	@DISEASE$ is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a @PHENOTYPICFEATURE$.	false
+ebf4bb2c5f57e8d91f51700e42ea7ab57b9c6170	@PHENOTYPICFEATURE$ are debilitating for individuals with @DISEASE$ (RTT) and their families yet the evidence base for management is poor.	has_symptom
+1169296fec0efdc854a36ef80ef6c31870d8f266	The trajectories of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+07fa61ad2c8fb41bfa2fb8925fef51261551dfbf	Pain and @PHENOTYPICFEATURE$ in @DISEASE$ and other neurodevelopmental disorders.	has_symptom
+0a328a014b0a7c4793018f4067cf8feadaf2e3eb	These findings highlight the complexities of aberrant MECP2 function in @DISEASE$ and explain some of the variation in manifestation of @PHENOTYPICFEATURE$.	has_symptom
+bd0b9fdda67a22d9f9fbf045c254ac5a2b39aa56	@PHENOTYPICFEATURE$ in @DISEASE$: a trial of exogenous melatonin treatment.	has_symptom
+5bffc20ab4a6422ea7a1d14ded65307095043c80	Sleep problems are commonly reported in @DISEASE$ (RTT); however the electroencephalographic (EEG) biomarkers underlying @PHENOTYPICFEATURE$ are poorly understood.	has_symptom
+3d337fb68fc7327bb95fcbe308d292f7261c6865	Therefore, it may be expected that lergotrile could fulfill these clinical uses; however, in the studies comparing the effects of single oral doses of lergotrile (2 mg) and bromocriptine (2.5 mg) on GH and PRL secretion in patients with @DISEASE$ and @PHENOTYPICFEATURE$, lergotrile in the dose used has been found to have an earlier onset and shorter duration of action.	has_symptom
+7af626eda7e6ed64affbcca4eba8bee9df5c74a3	Anterior and posterior pituitary physiology is described as well as hormone-producing tumors that cause Cushing's disease, @PHENOTYPICFEATURE$, @DISEASE$-gigantism, and precocious and delayed puberty.	has_symptom
+5840cf72606616f58a4b1dcc4fbc5e49eedbb39f	Anterior and posterior pituitary physiology is described as well as hormone-producing @PHENOTYPICFEATURE$ that cause Cushing's disease, hyperprolactinemia, @DISEASE$-gigantism, and precocious and delayed puberty.	false
+e6971c0dbedfe79685ce156b039fc57ae33091d8	Anterior and posterior pituitary physiology is described as well as hormone-producing @PHENOTYPICFEATURE$ that cause Cushing's disease, @DISEASE$, acromegaly-gigantism, and precocious and delayed puberty.	false
+0789972f7ce2617d30f0875f13148c607ee5534f	Altogether 15 patients with the most common types of hypothalamo-hypophyseal diseases including Itsenko-Cushing disease (6) of various degrees of severity, @PHENOTYPICFEATURE$ hypogonadism (8), and one patient with @DISEASE$ were investigated.	has_symptom
+c3e14e899971e9f9018267e0e549796da7f401a1	Altogether 15 patients with the most common types of hypothalamo-hypophyseal diseases including Itsenko-Cushing disease (6) of various degrees of severity, @DISEASE$ @PHENOTYPICFEATURE$ (8), and one patient with acromegaly were investigated.	false
+3a4e66acca1b97f7dcddac71bcf9357079a2158b	Altogether 15 patients with the most common types of hypothalamo-@DISEASE$ diseases including Itsenko-Cushing disease (6) of various degrees of severity, hyperprolactinemic @PHENOTYPICFEATURE$ (8), and one patient with acromegaly were investigated.	false
+0c4cbfe30d806d1a3ca335be0ae19c14ca927809	Altogether 15 patients with the most common types of hypothalamo-hypophyseal diseases including Itsenko-Cushing disease (6) of various degrees of severity, hyperprolactinemic @PHENOTYPICFEATURE$ (8), and one patient with @DISEASE$ were investigated.	false
+2e2fc32d00a39ab47623b3f2c3adc67c5d8c70eb	@PHENOTYPICFEATURE$ and @DISEASE$ were associated in 9/43 and 8/43 cases.	has_symptom
+d926b87c54d1768ce2c81a690fadfab33c730b10	Hyperprolactinaemia is found in 30-40% of patients with @DISEASE$, and @PHENOTYPICFEATURE$ may occasionally be diagnosed before acromegaly is apparent.	has_symptom
+2c1285182a683bc26885dad7f353601397aae150	@DISEASE$ (DA5) is clinically characterized by @PHENOTYPICFEATURE$, deep-set eyes, ptosis, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles.	has_symptom
+1a4174badbcdd977b29784e19b574b1c681b1043	@DISEASE$ (DA5) is clinically characterized by short stature, deep-set eyes, @PHENOTYPICFEATURE$, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles.	false
+1a0d3f28ef7ac2281dadfa2366f51685e0490b20	Distal arthrogryposis type 5 (DA5) is clinically characterized by @DISEASE$, deep-set eyes, @PHENOTYPICFEATURE$, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles.	false
+a8e17187dc820ad82cd68c6dc9312ff9b032e67e	The classical @DISEASE$ phenotype (progressive speech delay, psychomotor retardation, and @PHENOTYPICFEATURE$) was observed in 3 Turkish siblings.	has_symptom
+74d6cc5f60599e9e19ff42f4eafcf30af1ed5597	The classical @DISEASE$ phenotype (progressive @PHENOTYPICFEATURE$, psychomotor retardation, and behavioral abnormalities) was observed in 3 Turkish siblings.	false
+57cbc923a1167bf85568a70e22f165bb3e19e02a	The classical aspartylglucosaminuria phenotype (progressive @PHENOTYPICFEATURE$, psychomotor retardation, and @DISEASE$) was observed in 3 Turkish siblings.	false
+7b23f5c45f744945168451c8746a003958a26d47	The aims of this study were to document @PHENOTYPICFEATURE$ in individuals with @DISEASE$ (PMS), to assess whether these individuals had been evaluated for sleep disorders, and to examine relationships between the sleep behavior of these individuals and the sleep behavior and daytime functioning of their caregivers.	has_symptom
+4f93844c9656cf83bca8cf0bf831cbddae85141f	Hereditary paroxysmal ataxia with @PHENOTYPICFEATURE$: a clinicopathological study in relation to @DISEASE$.	has_symptom
+38d28c17607d9cf7d004f981c5ac66762bbf85dc	This preliminary study demonstrated the efficacy and safety of complete callosotomy with anterior, hippocampal, and posterior commissurotomy in @DISEASE$ (drop attacks) with moderate to @PHENOTYPICFEATURE$.	has_symptom
+57e8ac7c345eb5f77c3a41ddb960c717214417b3	@PHENOTYPICFEATURE$ epilepsy patients, [5 with @DISEASE$ (LGS)] who experienced significant behavioral improvements or worsening after addition of LTG to their medication regimen were studied.	has_symptom
+e0b18824ec5609dfd7b499ba9b8c5a0851e7bd00	@PHENOTYPICFEATURE$ epilepsy patients, [5 with Lennox-Gastaut syndrome (@DISEASE$)] who experienced significant behavioral improvements or worsening after addition of LTG to their medication regimen were studied.	has_symptom
+cd0f1ccb75d3fe189d0d3edfaa8002ac2845a0ce	We describe two @PHENOTYPICFEATURE$ girls, aged 14 and 18 years, who had band heterotopia and @DISEASE$.	has_symptom
+584aafaeac1212fafd971d8f2c8a7294b4a0b194	These patients presented with progressively proliferative facial angiofibroma, West syndrome, @DISEASE$, @PHENOTYPICFEATURE$, subependymal giant cell astrocytoma and they were affected by TSC2 gene mutations.	has_symptom
+ed27e47e8938121daf9a4e4d0f512621da146310	Herein, we report an 8-year-old child with @PHENOTYPICFEATURE$ postnatal microcephaly, Rett-like features, and @DISEASE$, carrying a de novo missense mutation in the forkhead box G1 (FOXG1) gene.	has_symptom
+1d70b6cb661d58cd544f8f72aa9fbc3a29172f66	The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of @DISEASE$ (Crouzon's disease) with complications including @PHENOTYPICFEATURE$, divergent squint in 4 children and borderline mental retardation in 3 of these children.	has_symptom
+f20198d86bb046dc9afafe476d268702d8ef6eff	The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of @DISEASE$ (Crouzon's disease) with complications including optic nerve atrophy, divergent squint in 4 children and borderline @PHENOTYPICFEATURE$ in 3 of these children.	false
+6f9e6dea382820df22b00138eae2ca7193374a3b	The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of craniofacial dysostosis (Crouzon's disease) with complications including @DISEASE$, divergent squint in 4 children and borderline @PHENOTYPICFEATURE$ in 3 of these children.	false
+c72fcf9addb041b3a9b7f81bb3de937e566d440f	@DISEASE$ with primary @PHENOTYPICFEATURE$ and normal brain functions: A case report.	has_symptom
+53cf138178e5f216405bbe6a964146b1fab4fdb3	@PHENOTYPICFEATURE$ and exotropia as presenting signs in @DISEASE$.	has_symptom
+01f26989faa45e1e21c3c2d9657899ac683f8d95	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, @PHENOTYPICFEATURE$, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	has_symptom
+fa44278bcfd2302ebf77f2ea5256350825f1875b	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, @PHENOTYPICFEATURE$, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+645f264ca4f416b3083a77e2e0e5a862cd709f79	We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+c51070f6a26a93ec2996dc1938b92b93880c2d9f	We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, @DISEASE$, a broad and tall forehead, medial @PHENOTYPICFEATURE$, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+5f4a574cbe82ad8922d69bcb18d48c1a03e3e077	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and @PHENOTYPICFEATURE$ with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+817b6d586308548cc81b95b8ef05f5238841c88e	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial @PHENOTYPICFEATURE$, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+81c3026c3dccfac84ec961937e4b806f8299981b	We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, @DISEASE$, a broad and tall forehead, medial epicanthus, and @PHENOTYPICFEATURE$ with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+a38d4e950d83b84f9d5eba6a5e82f6cb15d93879	The MJD/SCA3 mutation was identified in nine families with @DISEASE$ type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and @PHENOTYPICFEATURE$, but little evidence of cerebellar disease.	has_symptom
+b565d6e7d604f3e7176857fe14f126534d999456	The MJD/SCA3 mutation was identified in nine families with @DISEASE$ type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of cerebellar disease.	false
+2dbd34377d9c3b54cd0adfee3e26cb0ea2a87272	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and @DISEASE$, but little evidence of cerebellar disease.	false
+2c62accbf61ad46bd844534d4a307dc6287a5fa3	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of @DISEASE$.	false
+1bd090c2b7d57ccdb05d2cd80c078cc14d426b8b	The @DISEASE$/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of cerebellar disease.	false
+4b43422759f7203735d3ebefd438e3ed10ec4b5b	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, @DISEASE$, and spasticity, but little evidence of cerebellar disease.	false
+b3a4eca60a1d32528ac327b786bdbcfabd98d766	@DISEASE$: additional manifestations of @PHENOTYPICFEATURE$ and sacral appendage.	has_symptom
+bedc3400c7489b5823f379e8ff60da8e53bf7b49	The appearance of the face and digits is very similar to that observed in @DISEASE$ (mosaic isochromosome 12p), although the incidence of @PHENOTYPICFEATURE$, diaphragmatic hernia, and neonatal death is much lower in the latter condition.	has_symptom
+b98fe8827b621c1113deb817a1a91479a1a52921	W e present the case of a Mexican mestizo female patient of 4 years of age referred by psychomotor delay and @PHENOTYPICFEATURE$; the clinical multidisciplinary evaluation demonstrated characteristics corresponding to the @DISEASE$.	has_symptom
+53ca2eebea1f19dc77e87327bd3b92922d7d7672	@DISEASE$ with additional manifestations of @PHENOTYPICFEATURE$ and sacral appendage.	has_symptom
+eff627b8d298bda4ba6d20276b93f27f8a7ca22a	The proband of this study was a one-day-old female, who presented with major clinical characteristics of the @DISEASE$, and had severe malformations in the form of anal atresia, @PHENOTYPICFEATURE$, and severe laryngomalacia.	has_symptom
+df65451c5a385e3eca523f26f844ecff8244e5fe	The proband of this study was a one-day-old female, who presented with major clinical characteristics of the Pallister-Killian syndrome, and had severe malformations in the form of @PHENOTYPICFEATURE$, @DISEASE$, and severe laryngomalacia.	false
+d6874b6370e6d51e41f21718d774918f71073401	The proband of this study was a one-day-old female, who presented with major clinical characteristics of the @DISEASE$, and had severe malformations in the form of @PHENOTYPICFEATURE$, cleft palate, and severe laryngomalacia.	false
+27005a4b2267e5cc39e6babc7b901f606ae9dde3	This case highlights the rarity of the association between fetal alcohol syndrome and @PHENOTYPICFEATURE$ and the previously unreported association involving @DISEASE$-keratoconus and cleft palate-keratoconus.	has_symptom
+ae3f867aea859563f4c3dcf6230294c2c12c9dc1	This case highlights the rarity of the association between @DISEASE$ and @PHENOTYPICFEATURE$ and the previously unreported association involving fetal alcohol syndrome-keratoconus and cleft palate-keratoconus.	has_symptom
+eac52198abde853d771d9a81b894d3787b5e12ac	This case highlights the rarity of the association between @DISEASE$ and cleft palate and the previously unreported association involving fetal alcohol syndrome-keratoconus and @PHENOTYPICFEATURE$-keratoconus.	has_symptom
+b1c1ce220656f0e2938157ae247055ff10921cf0	This case highlights the rarity of the association between fetal alcohol syndrome and cleft palate and the previously unreported association involving @DISEASE$-keratoconus and @PHENOTYPICFEATURE$-keratoconus.	has_symptom
+72e613fab811ee174100feac5e9b5085621ad1bc	Healthy men and women were administered two laboratory-based tasks: a) key pressing to change the viewing time of normal-looking babies and of those with abnormal facial features (e.g., @PHENOTYPICFEATURE$, strabismus, skin disorders, Down's syndrome and @DISEASE$) and b) attractiveness ratings of these images.	has_symptom
+138fa3833b9555cc5f0438a519593bfe6c976c72	Healthy men and women were administered two laboratory-based tasks: a) key pressing to change the viewing time of normal-looking babies and of those with @PHENOTYPICFEATURE$ features (e.g., @DISEASE$, strabismus, skin disorders, Down's syndrome and fetal alcohol syndrome) and b) attractiveness ratings of these images.	false
+2cc0cf09ea1da87523636fcae44135ddf0ea1171	Healthy men and women were administered two laboratory-based tasks: a) key pressing to change the viewing time of normal-looking babies and of those with @PHENOTYPICFEATURE$ features (e.g., cleft palate, strabismus, skin disorders, Down's syndrome and @DISEASE$) and b) attractiveness ratings of these images.	false
+db47a9c182fbc230e4041644fe297707445ed275	Healthy men and women were administered two laboratory-based tasks: a) key pressing to change the viewing time of normal-looking babies and of those with @PHENOTYPICFEATURE$ features (e.g., cleft palate, strabismus, @DISEASE$, Down's syndrome and fetal alcohol syndrome) and b) attractiveness ratings of these images.	false
+c2b38b6229a4478af91b285d7280ad8da1586231	Healthy men and women were administered two laboratory-based tasks: a) key pressing to change the viewing time of normal-looking babies and of those with @PHENOTYPICFEATURE$ features (e.g., cleft palate, strabismus, skin disorders, @DISEASE$ and fetal alcohol syndrome) and b) attractiveness ratings of these images.	false
+779052bf08650fb272f9f7ee24d161a6a6bf3650	This report describes the case of a 9-year-old girl affected by @DISEASE$ who presented at birth with blepharophimosis and a @PHENOTYPICFEATURE$, which was submitted to surgery.	has_symptom
+127955fe4c4d1cc7c52b07faeea5b001f41d89e7	@PHENOTYPICFEATURE$ and keratoconus in a child affected by @DISEASE$: an accidental association?	has_symptom
+64e446aff9f76426cd24b6bd48405738a39ec993	Most patients with @DISEASE$ develop @PHENOTYPICFEATURE$ very early in life.	has_symptom
+df14a744ed47bb6af93afb0ce6dc3880fc6fc61d	We report on 2 sisters with an @DISEASE$, type Escobar, consisting of multiple pterygia with severe contractures, @PHENOTYPICFEATURE$, and minor facial and external genital anomalies.	has_symptom
+e85d1fc7bed1a5f7ed539ffb83addb13fb340405	We report on 2 sisters with an @DISEASE$, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external @PHENOTYPICFEATURE$.	false
+0ad946503a372198f50ec3d9d17c4b2a86f9e305	We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe @PHENOTYPICFEATURE$, @DISEASE$, and minor facial and external genital anomalies.	false
+5965bf388127f62ff5cbaf40b709ac2ffcfb7c2c	We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, @DISEASE$, and minor facial and external @PHENOTYPICFEATURE$.	false
+0619805c41843d877867727ca22e071e77f73dc0	We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple @DISEASE$ with severe contractures, short stature, and minor facial and external @PHENOTYPICFEATURE$.	false
+760ca5e5fc0b96f6f96faea8d5c3a5ee80c55e17	We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple @DISEASE$ with severe @PHENOTYPICFEATURE$, short stature, and minor facial and external genital anomalies.	false
+10db3420b7f13cd43e46f4044172d67045865f85	We report on 2 sisters with an @DISEASE$, type Escobar, consisting of multiple pterygia with severe @PHENOTYPICFEATURE$, short stature, and minor facial and external genital anomalies.	false
+bbbfed8dad2f0091953f25b2fe9da8de4f547b8e	In addition to the clinical characteristics of @DISEASE$, including an anomalous facial expression, multiple joint contractures, multiple pterygia and a @PHENOTYPICFEATURE$, two female siblings developed proximal dominant muscle weakness from birth and slowly progressive scoliosis.	has_symptom
+8b14fc95ee2630834e4c661ab971b05d4928eb48	In addition to the clinical characteristics of Escobar syndrome, including an anomalous facial expression, multiple joint contractures, multiple pterygia and a @DISEASE$, two female siblings developed proximal dominant @PHENOTYPICFEATURE$ from birth and slowly progressive scoliosis.	false
+197acbab11e887f0cd6556ec3073b93bd4a26a88	In addition to the clinical characteristics of Escobar syndrome, including an anomalous facial expression, multiple joint contractures, multiple @DISEASE$ and a short stature, two female siblings developed proximal dominant @PHENOTYPICFEATURE$ from birth and slowly progressive scoliosis.	false
+e071e73d633c1d34a552b15f338df479c1b4c929	In addition to the clinical characteristics of @DISEASE$, including an anomalous facial expression, multiple joint contractures, multiple pterygia and a short stature, two female siblings developed proximal dominant @PHENOTYPICFEATURE$ from birth and slowly progressive scoliosis.	false
+efeebe2ffbc7d299ef7f195e14bb41b097423161	In addition to the clinical characteristics of Escobar syndrome, including an anomalous facial expression, multiple joint contractures, multiple pterygia and a short stature, two female siblings developed proximal dominant @PHENOTYPICFEATURE$ from birth and slowly progressive @DISEASE$.	false
+4e8d900473b154068142726086e074c133b2dfab	4. Particularly low values of metabolic  clearance rate were found in two patients with @PHENOTYPICFEATURE$ and one with @DISEASE$. 5. We propose that the access of plasma noradrenaline to the main removal mechanisms takes place in competition with the flow of unlabelled endogenous noradrenaline directly released by nerve endings.	has_symptom
+de236c2181c461da2153025e2de829b9085a6d7c	@DISEASE$ and catecholamine induced cardiomyopathy presenting as @PHENOTYPICFEATURE$.	has_symptom
+ec58dfe1ec5a85cd0be571c11498f2a9a3407184	We report five cases of @DISEASE$ in patients admitted for myocardial infarction, severe @PHENOTYPICFEATURE$, with shock, stroke and ischaemic gangrene of a lower limb respectively.	has_symptom
+e7489b55860e565eeb1c2bae9bc948f47407abc7	@DISEASE$ presenting acutely as severe @PHENOTYPICFEATURE$.	has_symptom
+f9ab1d8afd7537a71701c33258bf31f974be147e	The authors report a case of apparently isolated bilateral adrenal @DISEASE$ in a 25-year-old man presenting with abdominal pain and neurosensory signs of HT, but ignored and complicated by @PHENOTYPICFEATURE$.	has_symptom
+1f2b02560dc8ad8d9458cc4c7a933be36cf42ef2	The authors report a case of apparently isolated bilateral adrenal phaeochromocytoma in a 25-year-old man presenting with @PHENOTYPICFEATURE$ and neurosensory signs of HT, but ignored and complicated by @DISEASE$.	false
+70b6ef9b6540d8c8f3146a23b61f727a8e5caf1c	The authors report a case of apparently isolated bilateral adrenal @DISEASE$ in a 25-year-old man presenting with @PHENOTYPICFEATURE$ and neurosensory signs of HT, but ignored and complicated by heart failure.	false
+60b8ff665a4032b2b1e2795b78a6c4c30606252e	DWI showed increased signal and a decreased apparent diffusion coefficient (@DISEASE$) in all patients, with corresponding lactate detected on MRS in six patients and EEG @PHENOTYPICFEATURE$ activity in nine patients.	has_symptom
+f87e6bee1913fa8027e1119323266218fff610ca	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized @DISEASE$ changes after generalized seizures (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived @PHENOTYPICFEATURE$ or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	has_symptom
+07a7a1ad88f12b1fbe24c58c3c4e6e7401554d73	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized @DISEASE$ changes after generalized seizures (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced @PHENOTYPICFEATURE$ (n = 1).	has_symptom
+623188eea392946c329ce603512d823d9b0806a3	The following postictal changes of the @DISEASE$ were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after generalized seizures (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced @PHENOTYPICFEATURE$ (n = 1).	has_symptom
+a5a1b2e3fe189e7f2c29e55bbe6f5319be5da11e	The following postictal changes of the @DISEASE$ were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after generalized seizures (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived @PHENOTYPICFEATURE$ or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	has_symptom
+e7792f6aa65815f122bb7074809d6b70793a41e7	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized @DISEASE$ changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+8fa2f33a0f7e63b9ed9e1c1ad864f9ac2d8607e3	The following postictal changes of the @DISEASE$ were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+f47c0c6c67c1022d6f890be448456ad1ea4a1822	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived @DISEASE$ or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+7772dfd30dd126866b1773af0239a4145dccc80c	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced @DISEASE$ (n = 1).	false
+57b434f42cb912e851588ddae28e7b14848a2dae	In one child examined 15 days after the onset of @PHENOTYPICFEATURE$, the @DISEASE$ were the same on both sides.	has_symptom
+50fbac118772fff177ff49c5fdfdc0609574f5f0	Presence of @PHENOTYPICFEATURE$ was associated with lower cortical apparent diffusion coefficient (@DISEASE$) scores and changes in (1)H-MRS metabolite ratios at both 24 and 72 h post-insult.	has_symptom
+70c4267e0b9ea63bbf8c46edbd2e4e386f79bc9b	This study aimed to identify early pathophysiologic changes that exist before the development of clinical symptoms and to evaluate if the apparent diffusion coefficient (@DISEASE$) map is a candidate early biomarker of @PHENOTYPICFEATURE$ risk in patients with SWS.	has_symptom
+a06752852c606beff0dd075a5da8a606cbe8b445	We used our recently developed normative, age-specific ADC atlases to quantitatively identify @DISEASE$ abnormalities, and correlated presymptomatic ADC abnormalities with risks for @PHENOTYPICFEATURE$.	has_symptom
+cb366b865b9169570d24bf322541535fe3ec765b	We used our recently developed normative, age-specific ADC atlases to quantitatively identify ADC abnormalities, and correlated presymptomatic @DISEASE$ abnormalities with risks for @PHENOTYPICFEATURE$.	has_symptom
+ba697e97db6213b6523d38de9d1bd3a47ab65d20	The present case indicates that the manifestation of a high intensity on DWI concomitant with @DISEASE$ reduction at the epileptic focus can be readily induced by the occurrence of epileptic discharges before convulsive @PHENOTYPICFEATURE$ is evident.	has_symptom
+f4c95a3a373174c018a79c7571d4d15fcad2dae8	The suspected onset of @PHENOTYPICFEATURE$ was temporal in 10 patients, frontal in 2 and occipital in 4. Individual maps of apparent diffusion coefficient (@DISEASE$) and fractional anisotropy (FA) were calculated and compared to a database of 40 healthy volunteers.	has_symptom
+47348527e60972d739a4ad7133dd26412c34137c	The following results were obtained: (a) The normal data for healthy Caucasians (J Clin Endocrinol Metab 1990; 70: 1330-1333) appear to be applicable to Japanese children; (b) BMD was normal in patients with congenital hydronephrosis with normal renal function; (c) One patient with congenital @PHENOTYPICFEATURE$ and one with @DISEASE$ had low BMD, but the MBD in the former improved markedly with peritoneal dialysis; (d) A reduced BMD was found in patients treated with long-term steroids, probably because of decreased turnover of bone; (e) A reduction in BMD was pronounced in preterm infants during the first few months of life.	has_symptom
+96dc43960ea7bf17813b1cd83fea2ab91b217dbe	@DISEASE$ is an X-linked disorder that has a complex phenotype that includes progressive @PHENOTYPICFEATURE$ and blindness.	has_symptom
+5921b31f083f0e2d0f21ffa338cdf78a0a37a63a	Lowe syndrome is an X-linked disorder that has a complex phenotype that includes progressive @DISEASE$ and @PHENOTYPICFEATURE$.	false
+42d4da4e263e00e3757c439130b6c30235fb3e77	@DISEASE$ is an X-linked disorder that has a complex phenotype that includes progressive renal failure and @PHENOTYPICFEATURE$.	false
+d0325869979ebd37bc2b8c441fd2998f8439bc9b	The @DISEASE$ (LS) is a life-threatening, developmental disease characterized by mental retardation, cataracts and @PHENOTYPICFEATURE$.	has_symptom
+fd15a8e834fd4c115a2f41f0e1bd3364f26285ff	The @DISEASE$ (LS) is a life-threatening, developmental disease characterized by mental retardation, @PHENOTYPICFEATURE$ and renal failure.	false
+0439a0e2882e01c359a165f10d61d5c053f69575	The Lowe syndrome (LS) is a life-threatening, developmental disease characterized by @PHENOTYPICFEATURE$, cataracts and @DISEASE$.	false
+d93d0fa7c0cbdce2bce2373728a3194c724e6630	The @DISEASE$ (LS) is a life-threatening, developmental disease characterized by @PHENOTYPICFEATURE$, cataracts and renal failure.	false
+035e16396a41e80ac66e0c80f36f3278ccbb04cf	The Lowe syndrome (LS) is a life-threatening, developmental disease characterized by mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d68338894b46f060941b93af5f40b1928d09577a	Nephrocalcinosis was more prevalent in Dent-1 disease, and renal tubular acidosis, aminoaciduria, and @PHENOTYPICFEATURE$ was more prevalent in patients with @DISEASE$.	has_symptom
+b43c583a2d71da2de22ee969e8550c3e39bf092d	@DISEASE$ (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and @PHENOTYPICFEATURE$.	has_symptom
+501f4ab45d0c3f3fc5d5db2d445d56aaa65c933f	Wolcott-Rallison syndrome (@DISEASE$) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and @PHENOTYPICFEATURE$.	has_symptom
+32b53b9ab0fbe63dee0a4ae7ead22df5dbc0a79b	Wolcott-Rallison syndrome (@DISEASE$) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	has_symptom
+26a9185e5bb4f5f340352757de13f9170b126435	@DISEASE$ (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	has_symptom
+5978839cc7ea5bc8942353510fcdc04534fb2cf5	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by @DISEASE$ (PNDM) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+df250524166e22c1e70214c11d8a331276f7516b	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with @DISEASE$, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+6e3bc891c8825c00224e3297c9280128781aee36	@DISEASE$ (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+05fcf3d5eb4d329159bad49fc08f09fe1227b5d2	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (@DISEASE$) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+d527153506e80ae6bd468a6dd1c6cd16a91b3778	Wolcott-Rallison syndrome (@DISEASE$) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+0fb324fb21f070b294821b18736bf64eed36d9de	@DISEASE$ (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), @PHENOTYPICFEATURE$, and recurrent hepatitis.	has_symptom
+c8af534b4c8527cc3e5d36689e6e431c7dec181f	Wolcott-Rallison syndrome (@DISEASE$) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), @PHENOTYPICFEATURE$, and recurrent hepatitis.	has_symptom
+cbee03745d70c34719724e69d433ad7b24afc176	@DISEASE$ (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @PHENOTYPICFEATURE$ and growth retardation.	has_symptom
+aee8f536e222051ef1e9082c6f15573b1a54c07b	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @PHENOTYPICFEATURE$ and growth retardation.	has_symptom
+c930225f192324ad23cb920df7c73857e7cdd431	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bd97c901990511cd82c41edf726aaf269039bf14	Wolcott-Rallison syndrome (WRS) is a rare @DISEASE$, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+4e81958d84aefd9c0b18f3357eac83363c0b5aaf	@DISEASE$ (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+3ea25fbcd967086e0157bea86b530c186c8c0229	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+8547d53e49756ca96b9ff39938d2519515b9b2a1	@DISEASE$ should be suspected in any infant who presents with permanent neonatal diabetes associated with @PHENOTYPICFEATURE$ and/or episodes of acute liver failure.	has_symptom
+7b5ffb9d012a830c1727226d53c4ccdd1af86ff7	Follow up clinical evaluation revealed features (like liver disease, @PHENOTYPICFEATURE$, and thyroid dysfunction) suggestive of @DISEASE$.	has_symptom
+0e935857416c1089573b61920a0b047b1c881fea	@DISEASE$ (WRS) is a rare condition characterized by permanent neonatal diabetes (PND), @PHENOTYPICFEATURE$, and recurrent hepatitis.	has_symptom
+54c4254bcf807c75390f0e03f337b971da9061ed	Wolcott-Rallison syndrome (@DISEASE$) is a rare condition characterized by permanent neonatal diabetes (PND), @PHENOTYPICFEATURE$, and recurrent hepatitis.	has_symptom
+7652ebbf4c383f792ff7544009c590921c19f666	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, @PHENOTYPICFEATURE$ and growth retardation.	has_symptom
+50096db0993cb7290f4e90dc328ac390f33c8ba9	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, @PHENOTYPICFEATURE$ and growth retardation.	has_symptom
+0e5b2064c5c661ba9254c0bb25340f28f425524e	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b021c2cb1bb9cc656c7f87b6a6c880ca0ac4c4e0	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+9525b84177831c4f98b34f7ec93fd671e8e06336	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+6f05ff4d477e15e8feba96f79f86a4ee1a0b47f6	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset @DISEASE$, skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+da37f7d3171d643a50e77e04c0091ea4b02bc2b2	@DISEASE$ is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, @PHENOTYPICFEATURE$ after 6 months old, and liver failure.	has_symptom
+24a13086944b18066ea05c4195b87d79f2f98540	The anatomical profile of the abnormalities is in line with the neuro-cognitive profile of patients with @DISEASE$, including motor dysfunction, @PHENOTYPICFEATURE$ and higher order cognitive problems.	has_symptom
+d7c19e5a685077da538dc2c88435fe79d415f0da	Clinically, both syndromes are characterized by recurrent bacterial infections, more severe in @DISEASE$. Developmental abnormalities (growth and @PHENOTYPICFEATURE$) constitute a prominent feature of LAD II and may be attributed to a general defect found in fucose metabolism in LAD II.	has_symptom
+83df9a1e8fcba40fc27ce8694d6a4bf30b54bcf4	Underlying etiologies were MPD, 13 (@DISEASE$, 8; essential thrombocythemia, 4; undefined, 1); dysfibrinogenemia, 1; anticardiolipin antibody, 1; oral contraceptive use, 3; and idiopathic, 4. All patients had ascites, hepatomegaly, and/or @PHENOTYPICFEATURE$.	has_symptom
+ba70bc3e632501e450ebe7d3fe14463be1027f59	We present a case study of an elderly female patient who suffered from @DISEASE$ for more than a decade, and was hospitalized for left-sided pleural effusion that appeared following left upper @PHENOTYPICFEATURE$.	has_symptom
+a09b067b57f414b630a96501d3b508e65d840c56	A 55-year-old woman with @PHENOTYPICFEATURE$, mucous stools, shock and @DISEASE$.	has_symptom
+0ee52e2e0916e4ac65348fceaa38a57cfbd05728	@DISEASE$ (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized @PHENOTYPICFEATURE$, blindness and dementia.	has_symptom
+fa00735f4840ffe050478575ba004cca660dffcd	@DISEASE$ (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized spasticity, @PHENOTYPICFEATURE$ and dementia.	false
+6e4c8326b789800b5034a6417ecbd7c844578e1c	Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized @DISEASE$, @PHENOTYPICFEATURE$ and dementia.	false
+5bca3eaeb988d1a86c99e794cbb7476027897aee	Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized spasticity, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fd50fbd7af6b263771c2a6f1d2903d72f139d77c	Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset @DISEASE$ characterised by neuroregression and hypotonia, evolving into generalized spasticity, @PHENOTYPICFEATURE$ and dementia.	false
+5011eb374c89fddf795daa0e3f0c8f2004a862f2	The purpose of this analysis was to identify if cerebellar volumetry and MR spectroscopy obtained as part of routine clinical work up of patients with sporadic @PHENOTYPICFEATURE$ differentiates patients with multiple system atrophy- cerebellar type (MSA-C) from those with @DISEASE$ (SAOA) who's condition follows a more benign course.	has_symptom
+351acb0a9ac377dd353a407ce08365644ce79010	The term "OPCA" is applicable to an increasing number of neurodegenerative syndromes, including autosomal dominant @PHENOTYPICFEATURE$, complicated spastic paraplegia, multiple-system atrophy (MSA), and many cases of @DISEASE$ (ILOCA), some of whom also turn out to have MSA.	has_symptom
+b0edb105d0cf12eb7fa0124d7aeb04e5335ab85c	@DISEASE$ (SAOA) denotes the non-hereditary degenerative adult-onset @PHENOTYPICFEATURE$ disorders that are distinct from multiple system atrophy (MSA).	has_symptom
+e2a11f011e5c41b8d6dc280d74a1e881242281e6	Fourteen subjects with MSAc, 11 with @DISEASE$ (ILOCA), 10 with familial @PHENOTYPICFEATURE$, and 10 healthy controls were tested.	has_symptom
+7972531a06c46a2ca216fde7678447d3c11aed9b	Thirty-six subjects (12 patients with MSA accompanied by predominant @PHENOTYPICFEATURE$ [MSA-C], 10 patients with spinocerebellar ataxias [SCAs] or @DISEASE$ [SAOA], and 14 healthy controls) were examined using 1.5- or 3-T magnetic resonance scanners.	has_symptom
+aa405225ecb2de19552ef93d337642f3f5a5e884	Differentiating @DISEASE$ (ILOCA) from @PHENOTYPICFEATURE$ due to the cerebellar subtype of multiple-system atrophy (MSA-C) can be difficult in the early stages of the disease	has_symptom
+01e060d94492bb693dc02d4cdf48f7f24cc6ad5a	The study was carried out on 48 patients of whom 17 were Friedreich ataxia (FA), 6 non-Friedreich early onset spinocerebellar @PHENOTYPICFEATURE$ (EOCA), 9 autosomal dominant cerebellar ataxia type 1 (ADCA 1), 7 ADCA 3 and 9 @DISEASE$ (ILOCA); 35 controls were grouped on early (< 30 years-old) and late age.	has_symptom
+1226f5f40a3a1bd45a76de8d7da2e1195bea8c0d	The study was carried out on 48 patients of whom 17 were Friedreich @PHENOTYPICFEATURE$ (FA), 6 non-Friedreich early onset spinocerebellar ataxia (EOCA), 9 autosomal dominant cerebellar ataxia type 1 (ADCA 1), 7 ADCA 3 and 9 @DISEASE$ (ILOCA); 35 controls were grouped on early (< 30 years-old) and late age.	has_symptom
+cf3f52961fff6d95311d1b4240aa85ecd996563b	26 adult patients with a diagnosis of @DISEASE$ were analyzed in a Brazilian @PHENOTYPICFEATURE$ outpatient clinic and followed regularly over 20 years.	has_symptom
+54e386323ad306954675c043a0ac250ab69b84a8	We have clinically and genetically evaluated 24 affected patients belonging to 22 Italian Friedreich @PHENOTYPICFEATURE$ (FA) families, 52 patients from 32 kindreds with proven autosomal dominant cerebellar ataxia (ADCA), 9 patients belonging to 5 families with autosomal recessive hereditary ataxia (ARCA) and 103 sporadic cases, 89 of which affected by @DISEASE$ (ILOCA).	has_symptom
+e8e8e38e33b24f4996704f18bb8bf29fac6b29e0	We have clinically and genetically evaluated 24 affected patients belonging to 22 Italian Friedreich ataxia (FA) families, 52 patients from 32 kindreds with proven autosomal dominant cerebellar ataxia (ADCA), 9 patients belonging to 5 families with autosomal recessive hereditary @PHENOTYPICFEATURE$ (ARCA) and 103 sporadic cases, 89 of which affected by @DISEASE$ (ILOCA).	has_symptom
+bfbe73ec15c234e0c6e877d2e3c4db6111b81485	Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant @PHENOTYPICFEATURE$ and 48 with autosomal recessive ataxia (27 with Friedreich ataxia and 21 with @DISEASE$).	has_symptom
+91f1d431c6959babbabf8efb163e0124e6e04bf9	Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive @PHENOTYPICFEATURE$ (27 with Friedreich ataxia and 21 with @DISEASE$).	has_symptom
+0f54cf95018ccb2d1eec8ff8c70219b3afb0b6fd	Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive ataxia (27 with Friedreich @PHENOTYPICFEATURE$ and 21 with @DISEASE$).	has_symptom
+74cd2ccbeac6dff8703fd68ab2b3fd3d97ff1dfc	Only 1 case of @DISEASE$ presenting with syncope has been published, but it was associated with @PHENOTYPICFEATURE$.	has_symptom
+74493aecf207ecdf4ae85ae60118afe6da735784	Pathological study of the surgical specimen showed findings of atypical @DISEASE$, and the postoperative course was uneventful until @PHENOTYPICFEATURE$ developed.	has_symptom
+9bbd21fdb2621b29822e7aec52c657e024ecfe0c	@PHENOTYPICFEATURE$ after @DISEASE$ surgery.	has_symptom
+04030c6ead0cb340905d02a05c46a38b0cea2a68	The results of this method in four patients are discussed (@DISEASE$, arteriovenous aneurysm, subdural haematoma, and a baby with @PHENOTYPICFEATURE$).	has_symptom
+7e787239c8b634dca4f44f54a156c3b21108ab47	We report 2 cases of syncope caused by a craniocervical junction @DISEASE$, with syncope being the sole presenting symptom and without @PHENOTYPICFEATURE$.	has_symptom
+397b5a3e999ae99434fb0149825d7b50d77beaf4	sphenoid ridge @DISEASE$) and another with @PHENOTYPICFEATURE$ after subarachnoid hemorrhage due to rupture of lt.	has_symptom
+1d7ccfda960da75635762d39ef8bb89a77281f76	A 56-year-old man underwent VP shunt insertion for @PHENOTYPICFEATURE$ that developed after the surgery for @DISEASE$.	has_symptom
+ddfc0938d575b71b89ff31a0539c7b47b8b5cf8f	Following a literature review, we found 1 case of posterior fossa @DISEASE$ presenting with syncope, but @PHENOTYPICFEATURE$ was also present.	has_symptom
+879727f3dd6e679d950fc3522e5b3325778e36f0	There are no reports of @PHENOTYPICFEATURE$ following radiosurgery for a @DISEASE$.	has_symptom
+1cc329c24228e65fb07af7aa6380c16a0b475058	Third ventricular @DISEASE$ is a rare tumor that may present with hemorrhage and obstructive @PHENOTYPICFEATURE$.	has_symptom
+1ca235646d08f2c2c9f03ea19b6e8dd511736b63	Third ventricular @DISEASE$ is a rare @PHENOTYPICFEATURE$ that may present with hemorrhage and obstructive hydrocephalus.	false
+1c8e957c3b5f3950ebc31b6a23efb43ea3694c38	Third ventricular meningioma is a rare @PHENOTYPICFEATURE$ that may present with hemorrhage and obstructive @DISEASE$.	false
+7b501409423b86ea6f1daf266536cbdc1438c15e	@DISEASE$ (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, @PHENOTYPICFEATURE$, hypoplastic thorax and visceral anomalies.	has_symptom
+d26ab34246a2a5f2e7212bc42a5a4e6084476878	Most common among these disorders is @DISEASE$ (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, @PHENOTYPICFEATURE$ and, often, multi-organ system involvement.	has_symptom
+1a63971e22f6781737e02afd4908c02b87bb9c79	@DISEASE$ (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies.	has_symptom
+6e7f817e17c7ba54255f09a3d95e34082d8c7e7d	Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal @DISEASE$ characterized by polydactyly, short @PHENOTYPICFEATURE$ and horizontal ribs, a short ovoid tibia and major organ anomalies.	false
+6d76e4ad031182f35b77dc47f3b59f10176ab961	@DISEASE$ (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short @PHENOTYPICFEATURE$ and horizontal ribs, a short ovoid tibia and major organ anomalies.	false
+50034a92879290b655ad1e3ddb318509191f0958	Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by @DISEASE$, short @PHENOTYPICFEATURE$ and horizontal ribs, a short ovoid tibia and major organ anomalies.	false
+3e440d33340831bf4f5b81fbe4fed082f31fe457	@DISEASE$ (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, @PHENOTYPICFEATURE$ and multiple malformations.	has_symptom
+385eabe63090d329266ea11e59b990c6a5533ccc	@DISEASE$ (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+3778bf08933f42433f634d88c3a67a4a6394a567	Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by @PHENOTYPICFEATURE$, short ribs with thoracic dysplasia and @DISEASE$.	false
+f809f9fa2e495a11bc7960792ea289d2cb35b3a3	@DISEASE$ (SRPS) is a group of skeletal dysplasias manifested by @PHENOTYPICFEATURE$, short ribs with thoracic dysplasia and polydactyly.	false
+553fce3bf9e3afa46fd68e63ac356a7404c2389b	@DISEASE$ (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and @PHENOTYPICFEATURE$.	has_symptom
+6bf51fd3b219eceee54ae09dabe603cf7f264899	@DISEASE$ (SRPS) is manifested by short-limb dwarfism, short ribs with @PHENOTYPICFEATURE$, and polydactyly.	false
+1f8ef0156d18fdf4aa1aeb3afcc30cd95fac360b	Short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9d3c5ea84b0bfc4638c3f0f69957f158d96618ec	@DISEASE$ (SRPS) is manifested by @PHENOTYPICFEATURE$, short ribs with thoracic hypoplasia, and polydactyly.	false
+eebcddc3264f3c5bd1c311482d3bf9a83bfc020a	Short rib-polydactyly syndrome (SRPS) is manifested by @PHENOTYPICFEATURE$, short ribs with thoracic hypoplasia, and @DISEASE$.	false
+f119d268238a3e1dc5b6a5ce63f0cbfbfdae737d	@DISEASE$ (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by short-limb dysplasia, narrow thorax, and @PHENOTYPICFEATURE$.	has_symptom
+e237f43fa62a81c9af223ffc182581a85ba382f6	Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$ dysplasia, narrow thorax, and @DISEASE$.	false
+be5aef296dc0d9cf48f1bfa2b2999d10957bcced	@DISEASE$ (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$ dysplasia, narrow thorax, and polydactyly.	false
+858a4c3ba1dd94c82f3277402896d15f72d8c273	Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal @DISEASE$ characterized by @PHENOTYPICFEATURE$ dysplasia, narrow thorax, and polydactyly.	false
+8481665fdc2b328d1a43eab6ca9412fbf428c7e2	The Majewski syndrome or @DISEASE$ (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, @PHENOTYPICFEATURE$, relatively proportionate head size at birth with later progression to microcephaly.	has_symptom
+478704ee75c1a50d3a0597ec9b16d08c1aeca469	The Majewski syndrome or @DISEASE$ (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to @PHENOTYPICFEATURE$.	false
+2071a20e34cab335525de25254e5b9d32939a19b	The Majewski syndrome or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, @DISEASE$, relatively proportionate head size at birth with later progression to @PHENOTYPICFEATURE$.	false
+763e223b50dea722805aade505dc4bd9a01bb11d	The Majewski syndrome or short rib-polydactyly syndrome (SRPS) type II is a lethal @DISEASE$ characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to @PHENOTYPICFEATURE$.	false
+199fd897d23f50425d7f916e4d6d7e70573217ad	The @DISEASE$ or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to @PHENOTYPICFEATURE$.	false
+85228eee0f987b346102c51c6f35a5ebdef0a603	@DISEASE$ (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and @PHENOTYPICFEATURE$ with or without visceral abnormalities.	has_symptom
+d7998f8afa284765c3715ba53ea82c9ebbb5102b	@DISEASE$ (SRPS) consists of a group of lethal skeletal dysplasias presenting with @PHENOTYPICFEATURE$ and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities.	false
+4c21b0b7e7b575611f7da5876574574750128ac1	Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with @PHENOTYPICFEATURE$ and ribs, hypoplastic thorax and @DISEASE$ with or without visceral abnormalities.	false
+94aa6a31250d819bac84f7c2ac3d8a82870c7db5	De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type @DISEASE$ with special consideration to the classification of short rib @PHENOTYPICFEATURE$ syndromes.	has_symptom
+e5cc21b5283a15dffee6620ffbcb8621a98aa357	The authors present a case of an 11-year-old girl with typical features of @DISEASE$ with special respect to medical and dental problems which include multiple bony cage deformities like @PHENOTYPICFEATURE$ with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.	has_symptom
+86b2e200a0395e86408d848e4e48df166d61f15b	Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar @PHENOTYPICFEATURE$ on plain radiographs led to the diagnosis of @DISEASE$.	has_symptom
+b5f496e0353e4eea20599da9dbfd5d833b73f9f0	Clinical symptoms were in accordance with the incidence of genital ambiguity (42.6%), digestive symptoms (vomiting and diarrhea) (35.5%), @PHENOTYPICFEATURE$ (26.5%), gonadal-associated symptom (premature puberty, sexual infantilism and amenorrhea) (21.2%), hyperpigmentation (9.7%), @DISEASE$ (AC; 4.1%), neurological symptoms (3.2%), fatigue (2.5%) and prolonged jaundice (2.1%).	has_symptom
+e0a0d824351cc61522d5ff383cca57b15e58d789	@DISEASE$ is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and @PHENOTYPICFEATURE$.	has_symptom
+6d2fb02954ed374bc208ffcf575b58226115d697	@DISEASE$ (TD) is a lethal form of skeletal dysplasia with @PHENOTYPICFEATURE$.	has_symptom
+b54fefeaed758c8c6fbef6c6f8f45c99f1f9b67f	Thanatophoric dysplasia (TD) is a lethal form of @PHENOTYPICFEATURE$ with @DISEASE$.	false
+799f047c27a55b3221bc20f8dccd33b46e444646	@DISEASE$ (TD) is a lethal form of @PHENOTYPICFEATURE$ with short-limb dwarfism.	false
+e0433e5b188be2db0242163932dd2178c8caef78	@DISEASE$ (SS) is a rare autoinflammatory disorder characterized by a chronic urticarial rash and a monoclonal immunoglobulin M gammopathy, accompanied by recurrent fever, lymphadenopathy, @PHENOTYPICFEATURE$ or arthritis, hepato- or splenomegaly and elevated levels of markers of systemic inflammation.	has_symptom
+697feba083951da2d1e3b3f45c943eee993bb721	@DISEASE$ (SS) is a rare autoinflammatory disorder characterized by a chronic urticarial rash and a monoclonal immunoglobulin M gammopathy, accompanied by recurrent fever, lymphadenopathy, arthralgia or @PHENOTYPICFEATURE$, hepato- or splenomegaly and elevated levels of markers of systemic inflammation.	false
+d6c87e9c7ed8cebd3af6e2cc934701754bd4f3ec	Schnitzler syndrome (SS) is a rare autoinflammatory disorder characterized by a chronic urticarial rash and a monoclonal immunoglobulin M gammopathy, accompanied by recurrent fever, lymphadenopathy, @DISEASE$ or @PHENOTYPICFEATURE$, hepato- or splenomegaly and elevated levels of markers of systemic inflammation.	false
+fe0e2591f5bb3c22804edb4735c26a3f8e41eabc	In conclusion, although in a subset of patients with markedly increased lower esophageal sphincter pressure, a good correlation between clinical, radiologic, and manometric findings exists, such a correlation cannot be established in all of the @DISEASE$ patients; esophageal dilatation or a sigmoid esophagus may not be due to a hypertensive sphincter, and their presence must not necessarily be interpreted as an indication of severity of the disease; there is an inverse correlation between chest pain and symptoms of dysphagia, regurgitation, and @PHENOTYPICFEATURE$; and finally, achalasia and hiatal hernia may coexist in 6% of the patients.	has_symptom
+3c301aa897e952a7e1263962a8e56bb8a0162a0a	@DISEASE$ is a primary neurodegenerative disorder of the esophagus characterized by loss of function of the lower esophageal sphincter (LES) and of esophageal peristalsis, which causes symptoms such as dysphagia, regurgitation, @PHENOTYPICFEATURE$, and chest pain.	has_symptom
+8f4be2b15ccfcaac4a9de49b22e13d87be0c8461	Leukodystrophy, @PHENOTYPICFEATURE$, and adrenal atrophy: @DISEASE$.	has_symptom
+16c84e8707327ef49ae701782ae8177ad8d863f3	Mean patient ages at surgery were 3 months for those with bilateral complete cataracts, 5 months for those with unilateral complete @DISEASE$ months for those with bilateral partial @PHENOTYPICFEATURE$, and 25 months for those with unilateral partial cataracts.	has_symptom
+8282eafd20621cdcd882bdc781b0bd48b6d85010	Mean patient ages at surgery were 3 months for those with bilateral complete cataracts, 5 months for those with unilateral complete @DISEASE$ months for those with bilateral partial cataracts, and 25 months for those with unilateral partial @PHENOTYPICFEATURE$.	has_symptom
+85cf7170f4b33cf93292737bc3cb1dfc41015ac3	Mean patient ages at surgery were 3 months for those with bilateral complete @PHENOTYPICFEATURE$, 5 months for those with unilateral complete @DISEASE$ months for those with bilateral partial cataracts, and 25 months for those with unilateral partial cataracts.	has_symptom
+ce0872b8d4d27c974e77e08293aea785d4136717	A pregnant 26-year-old woman with @DISEASE$ manifesting as paraplegia and @PHENOTYPICFEATURE$ was treated with multiple courses of lymphocytaplasmapheresis.	has_symptom
+4e55add83266fe1c56626e8a1eb8b63cb1f56702	Since it can cause irreversible @PHENOTYPICFEATURE$, especially in the optic-spinal form of MS or @DISEASE$ (NMO), the present study was conducted to assess the effects of geranylgeranylacetone (GGA) on optic neuritis in the experimental autoimmune encephalomyelitis (EAE) mouse model of MS.	has_symptom
+2060a0b18d029566b31ac3ffc4821926d2923ca7	@DISEASE$ was rare and simultaneous bilateral @PHENOTYPICFEATURE$ at on set was not too common this series, differing from that previously reported of Japanese MS.	has_symptom
+36156a4d359ffc41ee66900d3875730d5a1829fb	Here we report a 11-year-old Chinese boy who presented with @PHENOTYPICFEATURE$, was suspected with optic neuritis (ON) or @DISEASE$ (NMO) and referred to our department for further diagnosis.	has_symptom
+dd2cf9ffc7b8470c1afe227f79d43de4dbb3f7ba	We report on a case of @DISEASE$, a rare metameric disorder, characterized by a vascular @PHENOTYPICFEATURE$, with an associated vascular skin lesion of the same metamere, in an 8-year-old girl presenting with leg weakness.	has_symptom
+79577595a1698f5eb823aed6d8a62782905adb27	Increased density of oligodendrocytes in childhood @PHENOTYPICFEATURE$ with diffuse central hypomyelination (@DISEASE$) syndrome: neuropathological and biochemical study of two cases.	has_symptom
+1fc445a063f823e7b9bb21b5accb2ef6b4833774	Mutations in each of the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of various severity: @DISEASE$, childhood @PHENOTYPICFEATURE$ with central hypomyelination/leukodystrophy with vanishing white matter and ovarioleukodystrophy.	has_symptom
+e62c7fa6f1115080b0e5569bee3fd81684264a6e	Childhood @PHENOTYPICFEATURE$ with cerebral hypomyelination (@DISEASE$) syndrome: a study of three siblings.	has_symptom
+32f68810310d044f28a876e6c16ba41202435225	Autonomic cardiovascular control and @PHENOTYPICFEATURE$ in two pregnant women with @DISEASE$: Insights from ICD monitoring.	has_symptom
+a9f99f72827b0f82e426667afcfe65afb8d3a643	[Characteristics of @PHENOTYPICFEATURE$ in patients with @DISEASE$].	has_symptom
+4fabb8d9b8883e7cce78f60c6b05768b12cd0118	@PHENOTYPICFEATURE$ and prognosis in infants, children and adolescents with @DISEASE$.	has_symptom
+13da4314926e14e2f642d784373339e1f3ea1878	At exercise test, in patients with @PHENOTYPICFEATURE$ or @DISEASE$, abnormalities may occur after exercise.	has_symptom
+34b6d03400ef13dd5f90771acfc75501e7e73e9f	Additional medical problems characteristic for CS, such as @DISEASE$ and @PHENOTYPICFEATURE$, need to be considered and addressed appropriately.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+6a1d0e3288c88857a92cbad5c6e39263ec32b9f4	@PHENOTYPICFEATURE$ and prognosis in @DISEASE$.	has_symptom
+32a657fe0eff30010aff5d12d97d115169ee52bc	@DISEASE$ is associated with @PHENOTYPICFEATURE$-related consequences, particularly sudden death.	has_symptom
+d5c9387a08956f60c12bee5b4fd695fa9ddf72ed	Patients with this syndrome have a high incidence of cardiac involvement, including @PHENOTYPICFEATURE$, atrial septal defect, and @DISEASE$.	has_symptom
+6104196ef025ff10b7e46f3ada4a6c6b1e8156a5	Five patients had no concomitant @PHENOTYPICFEATURE$; however, two of them had @DISEASE$ with symptoms requiring beta-blocker.	has_symptom
+c118d13bd087e9ef6d29835ceca22b1642fc0262	@DISEASE$ (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine @PHENOTYPICFEATURE$, and destruction of cardiac valves.	has_symptom
+b317daa802edfaa154fc0c4237a1670a89aa50ee	The three major features of @DISEASE$ are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and @PHENOTYPICFEATURE$ of the spine and large joints.	has_symptom
+78f165d580ec6785544f48dd3c6c014a967223cc	Clinicians should take into account a diagnosis of central nervous system @DISEASE$ when children present with prolonged headache, @PHENOTYPICFEATURE$, and focal neurologic signs.	has_symptom
+7f0c0ee6537184d91d2becb40cbda80204621241	Heterozygous humans for PAX2 mutations show autosomal dominant @DISEASE$ (PRS), consisting of ocular colobomas, renal hypo/dysplasia and progressive @PHENOTYPICFEATURE$ in childhood.	has_symptom
+9255fcfce4037efe30d4b7f8aa9d590b8111a6c6	In humans, PAX2 haploinsufficiency causes @DISEASE$ (RCS) involving eye abnormalities, renal hypoplasia, and @PHENOTYPICFEATURE$ in early life.	has_symptom
+b056208c260af114c487edb19b99f50224a70801	Thirty-seven patients with acute community-acquired bacterial meningitis, four patients with neurosurgical bacterial meningitis, 29 patients with viral meningitis or @PHENOTYPICFEATURE$, seven patients with @DISEASE$, and 97 control patients were included.	has_symptom
+cba6bea07cca35e5bd78f89ca97e6fe010edd251	The different diagnoses studied were bacterial meningitis, pneumonia, viral meningitis, cerebral abscess, enteritis, erysipelas, viral @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3eeecf3e0a02d67c4e8ebbe173263c88dcee4ed7	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause @DISEASE$, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	has_symptom
+ad29028c38ec63676726cbf98ddf151ccc575412	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @DISEASE$, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+8abf4060eb3ebdf7eb7184624ca8baf18a9983ee	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and @DISEASE$, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+1cbcd038fc6d6c229f9eb968af5d25a4193d23e0	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause @DISEASE$, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+42bf93dc49ef9a0e0b5b55e2efdc6bcecc253e8f	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, @DISEASE$, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+ee19a206bd5d42705f0896969d0e6bd675f6025d	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, @DISEASE$, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+2dd25577db738bf5bd0f8034e397b8a0b61d41f9	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; @DISEASE$ (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+1b7197f2b5fb3abd2356552dfaac86c29e0c60c3	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and @DISEASE$, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+52a93bd319b13e503a3363ab22db76fe4657c3de	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause @DISEASE$, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+c3c04dacda89892de72aaeedcea2967eab5372b6	IARS2 mutations are reported to cause @DISEASE$ or @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).	has_symptom
+9d207c43df0907c3c6a4164df5ed39d9ed8ee1ce	IARS2 mutations are reported to cause Leigh syndrome or @DISEASE$, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).	false
+f766a2e10a4054ab7c3e187f30b3e34b5871ae5f	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and skeletal @DISEASE$ syndrome (CAGSSS).	false
+11a6407f481135a10bd052f844c1a255f626ccc5	IARS2 mutations are reported to cause Leigh syndrome or @DISEASE$, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and skeletal dysphasia syndrome (CAGSSS).	false
+7ff438e6f65370a5e9e0ca8a424dfc7e0615c3dc	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and skeletal dysphasia @DISEASE$ (CAGSSS).	false
+d01d7cf2d9c0acafafe9ebcd82c59bae3d06f78f	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal @DISEASE$ syndrome (CAGSSS).	false
+acbabc09ceda6386a6639f47c38cbb25393f6b53	IARS2 mutations are reported to cause @DISEASE$ or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).	false
+3fbd560d92cfbc29b3504bf0b864ed3f3c0557e3	IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal dysphasia @DISEASE$ (CAGSSS).	false
+e96eec61935aca99271d721833946dc1f5df5ee4	IARS2 mutations are reported to cause @DISEASE$ or cataracts, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and skeletal dysphasia syndrome (CAGSSS).	false
+e572087c5de85f76d98988c67a0313860dce3bae	Other problems included hypotonia, hypoglycaemia, neurological abnormalities (including @DISEASE$) and @PHENOTYPICFEATURE$.	has_symptom
+187f52e60f04d727089970bc381d78c3342baeff	Other problems included hypotonia, @DISEASE$, @PHENOTYPICFEATURE$ (including Leigh syndrome) and cataracts.	false
+9acdb2961f9bdd069877e973de452644c9b75a37	Other problems included hypotonia, hypoglycaemia, @PHENOTYPICFEATURE$ (including Leigh syndrome) and @DISEASE$.	false
+18cfc944ca450be82e74a5663de60f708c2cbe56	Other problems included hypotonia, hypoglycaemia, @PHENOTYPICFEATURE$ (including @DISEASE$) and cataracts.	false
+a2fdff78976d19559daa2d5821b7e62e08862ca2	The patients fell into five categories: severe neonatal lactic acidosis; @DISEASE$; cardiomyopathy and @PHENOTYPICFEATURE$; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	has_symptom
+dc1272412e613270319a5ec0ec2dcf46abe4379f	The patients fell into five categories: severe neonatal @PHENOTYPICFEATURE$; Leigh disease; cardiomyopathy and @DISEASE$; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	false
+e200d1b3778da435fec812c1981d7f8ae0c67bad	The patients fell into five categories: severe neonatal @PHENOTYPICFEATURE$; Leigh disease; @DISEASE$ and cataracts; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	false
+4724f0ed53d407e0a3e738acd9e0d7f10430ee86	The patients fell into five categories: severe neonatal @PHENOTYPICFEATURE$; @DISEASE$; cardiomyopathy and cataracts; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	false
+866f543d2718b385a130e71fc702de3953363eae	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @PHENOTYPICFEATURE$, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	has_symptom
+23f40e4a5529bc850d34174459ccacc517a720d5	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @DISEASE$, growth hormone deficiency with @PHENOTYPICFEATURE$, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.	false
+604d5d402a19915ed1bca9be5e29ab92ccea6da1	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with @PHENOTYPICFEATURE$, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	false
+b6d6c1b597f4c69848a31ff3dabfcc7a24d04aa9	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial @PHENOTYPICFEATURE$, and peripheral neuropathy or with @DISEASE$.	false
+a6ae6e1414980f425171d251e3b35ba28eee8ad0	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and @PHENOTYPICFEATURE$ or with @DISEASE$.	false
+cc42377685c5ac1790411afe9443d359a3eb485a	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @DISEASE$, growth hormone deficiency with short stature, partial sensorineural deafness, and @PHENOTYPICFEATURE$ or with Leigh syndrome.	false
+f6558bcce4f3b7f3abce8aae0d27bb5f85981fdc	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @DISEASE$, growth hormone deficiency with short stature, partial @PHENOTYPICFEATURE$, and peripheral neuropathy or with Leigh syndrome.	false
+893770c3bb3793491f1113e99a594a07d867fd49	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (@DISEASE$ and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	has_symptom
+948ab229a8bc94bef20e0714e3eb46ba880d53e6	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (@DISEASE$), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	has_symptom
+17a31af27c8bc78dca2c709417003b5992121849	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and @DISEASE$) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+6c113df6dab5718af64eba72df178bfca49a8eb0	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and @DISEASE$), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+70751b0ab56054fce8af202522422f5dee602764	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (@DISEASE$, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+83fbdf6da5723bcdb94c46c216e4165c9290d545	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, @DISEASE$ and Martsolf syndrome).	false
+e34dd16bc2c4d20e070c8539321d17b6b4d444cb	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (@DISEASE$), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+1567443427267859d717a5af5a6e9fb12f0ef475	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and @DISEASE$).	false
+a6a174045fdcea9a92353752f6cc7a32b1dcbfb3	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @DISEASE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+d257f4b649ea36dc06b1d07484c6ac73f1d18268	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (@DISEASE$ and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+d7abb58dadbdf073cb2fda9ee58bf928456961d1	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, @DISEASE$, Warburg Micro syndrome and Martsolf syndrome).	false
+adf2aa1a3243f0218da59190e16d9926f7e4441a	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, @DISEASE$ and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+424ecf5f9047e4a7b6deb0921b43ef4cf242a5aa	Some diseases such as those resulting in bleeding and pigmentation disorders (@DISEASE$), @PHENOTYPICFEATURE$, neuropathy (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and blindness (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	has_symptom
+12add3451ccee23d980c0820c86d331b45af25c6	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), @DISEASE$, neuropathy (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+3180fe0b7c2a7ee31b8348d6017d66b34bc6f0c5	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (@DISEASE$), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+10a53d015e32f954211f1267bfc79cf3b42b82b3	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and @PHENOTYPICFEATURE$ (@DISEASE$) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+ef6c480716ec892578b9cab31241cd673861ddf2	Some diseases such as those resulting in bleeding and @DISEASE$ disorders (Griscelli syndrome), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+e2f0aba26d354482bc19f03660006ac6b9cfb992	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), mental retardation, neuropathy (Charcot-Marie-Tooth), @DISEASE$ (tuberous sclerosis), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+efd07a7d88eb4d3f9e0bcaf1c4a2bceafd7a6adc	Some diseases such as those resulting in bleeding and pigmentation disorders (@DISEASE$), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+8c0718460ae0eb089f06d5fe9e51d41b41f026c0	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), mental retardation, @DISEASE$ (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+359df3e7aef81e49b807ded09d213749a793e294	The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and @PHENOTYPICFEATURE$ epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with @DISEASE$ but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10)  biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations.	has_symptom
+bc568a9fca74bf5b30d2388450f8c9a10d145ac7	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+b4d2e5913b4fc56f133269e216c5e5a023537abd	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+c677e43ac831d38c3b2218e16952544f784685b4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	has_symptom
+ee436fee79aae32686811a27d1e65b26af10cad9	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	has_symptom
+3ab5784967c44ed73b6a976fd6903640d7e60c04	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, @DISEASE$, or West-syndrome was reported.	false
+a67663c373d183369bf5e835db1af5fd00a4a76e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+826b2d7cdbcbba7b37e603ff19c9959da3ce93d4	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+212540789e8ac889ddbbedc0d59b417a1970b68e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+66600f101a199f1dc15ab9c36c8fbf6345c099e2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+62b74282c2459d833c32ad6f885b9dcac0577af2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+56c1bdee7f1a27cf810be66e063fb3f544e43b23	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @DISEASE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+71363aa4c687e96894c92377726f2c03b0097899	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+c34238e2a28ad693d66c294446e33e4fb602ea58	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+a85b8ac9250bba7302d63350d9d706c61e8f119a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, @DISEASE$, or West-syndrome was reported.	false
+377a65c1860bb3c50ee132ef19380cafffcdb74a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+5a8d95578f47b3e7d79903ea81fcfdb128b8bc7c	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+86cf1806aa10168fea60d120486cfe9b491e91a6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+cb812df10419bc01da1d6f398c3c2d5f978a0b4c	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+fe485c8cbd55a626d52391e184acd413827f1e9d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+c98e7cbe7c252728a49a5c028c88b98293de79fa	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+794c573c0c5897fff46d73c169a8015c2e50a027	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+dba29fcc2eaaa269db643d1ae22871fb7d23a38d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8217b7241d44dca70fe48a1c5945292beab7a2a8	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+38e4c2741907e6b560a530460fdbfd9e189d933f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+2d79c46b6ad65565cbbb07c6d013c97b3d0b8ed6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ea4ce454519c3af1b4bb5d1fece3ffcb41b4a685	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @DISEASE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+d76ace2ee80678e11e2a0f1e795086bab8bbf796	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+a37b59a44242385b67acf61799a5df98fe70eea6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+acbec472abb727147be2883c3783bca88521e97f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7d4b160abdb6554d1c43a92967db5685a98c064a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+69188dbb5d9efc01f962981a56d5372c0df5a6e5	It must be distinguished from the Jansky-Bielschowsky presentation of neuronal ceroid lipofuscinosis, mitochondrial encephalopathy, lactic acidosis, strokelike episodes (MELAS) and @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF) syndromes, atypical presentations of GM2 gangliosidoses (Tay-Sachs and Sandhoff's diseases), primary sialidosis (neuraminidase deficiency), galactosialidosis, and @DISEASE$.	has_symptom
+6170af6a26fee8567fbfbd11e9fd11ebee6510bf	[Proteus @DISEASE$ meningitis presenting as @PHENOTYPICFEATURE$ in an infant].	has_symptom
+bea29d51a886a07ad95e1f7825a40c539f7a8cbc	@DISEASE$ is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by @PHENOTYPICFEATURE$, rash, vomiting, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	has_symptom
+e74f42761419047be8d43a9d8901a45a27d0c0af	Hyperimmunoglobulinemia D syndrome is another example of @DISEASE$ and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, @PHENOTYPICFEATURE$, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+f2a73b9b13dbc837b53563c8a1e09f56f358a272	Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, @PHENOTYPICFEATURE$, @DISEASE$, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+25e5bc448fff8d170dba8a87374bc33497b0a8f7	Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, @PHENOTYPICFEATURE$, diarrhea, arthralgia, @DISEASE$, aphthous ulcers, and cervical lymphadenopathy.	false
+be5227a787496e3281a64d13e9da643335a61ac4	@DISEASE$ is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, @PHENOTYPICFEATURE$, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+d322b82d18b677f8996f8b4c0d4a468cd50c5539	Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by @DISEASE$, rash, @PHENOTYPICFEATURE$, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+df59905281891b004021c4acefcaa3ae51990bc2	Hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by recurrent fever, lymphadenopathy, diarrhoea, @PHENOTYPICFEATURE$, headache, arthralgia and skin rash.	has_symptom
+083496a79527dccc561b12473c597fd262996faf	@DISEASE$ (HIDS) is a rare autosomal recessive disease characterized by recurrent fever, lymphadenopathy, diarrhoea, @PHENOTYPICFEATURE$, headache, arthralgia and skin rash.	has_symptom
+8a10919831a85709ad9fa167f0588eb000b309b9	[Epidemiological study of disease outbreak of Pontac @PHENOTYPICFEATURE$ type of @DISEASE$ due to pollution of hot water shower system ].	has_symptom
+6ebbce123cf94d48dd512392a50edd2e26efa57e	Elderly patients with CAP caused by L. pneumophila had a higher frequency of underlying comorbidities and presented less frequently with @PHENOTYPICFEATURE$ and classical nonrespiratory symptoms and laboratory abnormalities of @DISEASE$ than younger patients, although greater severity of illness at onset and higher mortality were not significantly different between the two age groups.	has_symptom
+fbc527f653d1c94a30f6a10ba1324bee7f1a4175	Patients with @DISEASE$ had higher @PHENOTYPICFEATURE$, more severe headache, and less expectoration as well as lower sodium blood levels (mean, 132.6+/-4.8	has_symptom
+77386a7001f15fb75aeaffe3c9402a94e8187676	The guinea pig may be used as a model for @DISEASE$, but the only dependable clinical criteria of infection after airborne challenge are weight loss, @PHENOTYPICFEATURE$, and seroconversion.	has_symptom
+88eaf164363a3635a0bb554bd134732d38b1fada	The causes of @PHENOTYPICFEATURE$ such as craniofacial cleft, @DISEASE$, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma were also discussed.	has_symptom
+7788da3071969a24fc254e62f8665061a9547645	Anomalies in patients with Muenke syndrome include @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss, and developmental delay, among others.	has_symptom
+41e946b9d1fc035f8a74ab9f69b7d5dc2efd126f	Anomalies in patients with Muenke syndrome include @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, and developmental delay, among others.	false
+7510d891f27ef553c4e2bcb0ef30af8cb6f5243a	Anomalies in patients with Muenke syndrome include craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay, among others.	false
+ed3feeb1874f56b67a2dbbde7d31abffd67de666	Anomalies in patients with @DISEASE$ include craniosynostosis, hypertelorism, @PHENOTYPICFEATURE$, and developmental delay, among others.	false
+aa7fe3f89aca653020a5e34c11e946a0ae3d8ace	Phenotypic features include @DISEASE$, @PHENOTYPICFEATURE$ and a broad nasal root with or without a bifid nasal tip.	has_symptom
+94343f6eca72ea080e7bc452bb2a5d88fdd3fce9	@PHENOTYPICFEATURE$ was mostly attributable to craniofacial cleft, @DISEASE$, frontoethmoidal meningoencephalocele, frontonasal fibrous dysplasia, and trauma.	has_symptom
+d51b17c3d827de22543b3753d66c6c524030f4c2	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes @PHENOTYPICFEATURE$, coronal @DISEASE$, frontonasal dysplasia, and digital anomalies.	has_symptom
+962957cb7b13fc01f1ea85cd218974c01aadcc87	@DISEASE$'s (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+4a3a0ce45bf84700347fa9cc266d230f4d06429b	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal @DISEASE$, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+82a0846b91756f2a0fb5d28022bcb0c410babb32	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2e818fa8490563c3e02cd84ac025910d75fd0643	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes @DISEASE$, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+553b2fe098a19deb1db94295da8884cd1120cae8	Forty cases of various computer-assisted surgeries were analyzed, allowing a comprehensive review of outcomes in cases such as craniosynostosis, complex @DISEASE$, @PHENOTYPICFEATURE$, craniosynostosis sequelae and cranio-facial and orbital trauma.	has_symptom
+a04bb256c3f196fed547017e5c8fe65dbe67f632	Forty cases of various computer-assisted surgeries were analyzed, allowing a comprehensive review of outcomes in cases such as @DISEASE$, complex craniosynostosis, @PHENOTYPICFEATURE$, craniosynostosis sequelae and cranio-facial and orbital trauma.	has_symptom
+e235a9cdd98aaae37086d71de538c8ac144d916d	Other features include @DISEASE$, short stature, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly.	has_symptom
+8f08f2a51eb22582b57bb0530ab8c070febb3274	Other features include @DISEASE$, short stature, hypertelorism, down-slanting palpebral fissures, @PHENOTYPICFEATURE$, mediofacial hypoplasia, and turri-brachycephaly.	false
+dfae9fa03d6cc5ebf3a761b6eccf683f1181a725	Other features include @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly.	false
+f9f9f0fcebb9b47681644a8ab24d8fa441631369	Other features include craniosynostosis, short stature, @DISEASE$, down-slanting palpebral fissures, @PHENOTYPICFEATURE$, mediofacial hypoplasia, and turri-brachycephaly.	false
+53badeebff4e9b7f37c1c992f976584fbea2fed2	Other features include craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly.	false
+2eab665d7051716ca88f1be0ec7029d60cddd58a	Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal @DISEASE$, exorbitism with @PHENOTYPICFEATURE$, and maxillary hypoplasia with mandibular prognathism.	has_symptom
+c8de804b4f90562316edf48eaa9a9f55690ad6b5	Affected females had @PHENOTYPICFEATURE$, broad nasal root, frontal bossing, @DISEASE$, syndactyly of toes and fingers, and vertical grooving of nails.	has_symptom
+8e461b4e3f97bf80f75d7700fc104ee393eb0d8c	Females have frontonasal dysplasia and coronal @DISEASE$ (fusion of the coronal sutures); in males, @PHENOTYPICFEATURE$ is the only typical manifestation.	has_symptom
+dea438d7444892903f99b668346f1eeba2f587c0	@DISEASE$ should be considered in unexplained progressive neurologic disorders of childhood and adolescence, including isolated @PHENOTYPICFEATURE$.	has_symptom
+7a739c409149cb3f44eb7ca5e13f0f3022803000	Three cases were previously reported with hyperphosphatemic familial tumoral calcinosis that were associated with @DISEASE$, an autoinflammatory disorder that is characterized by recurrent episodes of @PHENOTYPICFEATURE$.	has_symptom
+6be53e493b92ffc77ee53a7a23fa7b073af9266d	Three cases were previously reported with @PHENOTYPICFEATURE$ familial tumoral calcinosis that were associated with chronic recurrent multifocal osteomyelitis, an autoinflammatory disorder that is characterized by recurrent episodes of @DISEASE$.	false
+34497028b665eb43666b758e3a6394e3efb95155	Three cases were previously reported with @PHENOTYPICFEATURE$ familial tumoral calcinosis that were associated with @DISEASE$, an autoinflammatory disorder that is characterized by recurrent episodes of bone pain.	false
+a2c1bedf3b8c76bb705d69b6bbe406375f9e451c	Three cases were previously reported with hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis that were associated with @DISEASE$, an autoinflammatory disorder that is characterized by recurrent episodes of bone pain.	false
+742b961e9b9c84a467faaa4b74a47868e37cbf82	Three cases were previously reported with hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis that were associated with chronic recurrent multifocal osteomyelitis, an autoinflammatory disorder that is characterized by recurrent episodes of @DISEASE$.	false
+49aed461d5a446674b036242a1077a50ac9a627b	@DISEASE$ (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and @PHENOTYPICFEATURE$, which is caused by biallelic mutations in the POC1A gene.	has_symptom
+a432f4788063b111116ada94b0911fd4b777f045	SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.	false
+76578f0f89eb62c88b2d495a0fba564e74584dbc	SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, @PHENOTYPICFEATURE$ and @DISEASE$, which is caused by biallelic mutations in the POC1A gene.	false
+47b973391bfa21af35324116e04ec50db6a750d2	@DISEASE$ (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, @PHENOTYPICFEATURE$ and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.	false
+4ac47a6c0a8898265e0abc39939b21a3f45fea9c	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, @DISEASE$ (Short stature, Onychodysplasia, Facial dysmorphism, and @PHENOTYPICFEATURE$).	has_symptom
+18448dcda15702d0728578b7f38152b95edd1cf1	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (@DISEASE$, @PHENOTYPICFEATURE$, and hypoTrichosis).	false
+611cc59fe8d9db2741a70ffa4589d26ddff779ed	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, @DISEASE$ (Short stature, Onychodysplasia, @PHENOTYPICFEATURE$, and hypoTrichosis).	false
+fb1978defce0a553f6626431bff79f9c691a815d	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+8eeae97ac9592dd59d6283f5abd6644dcd04f27c	The @DISEASE$ phenotype: spasticity, microcephaly and @PHENOTYPICFEATURE$ with agenesis of corpus callosum and loss of white matter.	has_symptom
+a8cd67cd4be74bf71abffe6b9a6d1130d0e5006b	The @DISEASE$ phenotype: @PHENOTYPICFEATURE$, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.	false
+fdc362d332cc2c9eeaebf44c728dfa734bdff4d9	The @DISEASE$ phenotype: spasticity, @PHENOTYPICFEATURE$ and micrognathia with agenesis of corpus callosum and loss of white matter.	false
+144a24a8874dc6fcd4a2fe3643c0b69f5160c96e	The desmosterolosis phenotype: @PHENOTYPICFEATURE$, microcephaly and @DISEASE$ with agenesis of corpus callosum and loss of white matter.	false
+69a2603b45116e0f6f77a12a622b47744fcb05b8	The desmosterolosis phenotype: spasticity, @PHENOTYPICFEATURE$ and @DISEASE$ with agenesis of corpus callosum and loss of white matter.	false
+8b01a0cab3534830d807df5e92cd4a0eedcd22c1	Congenital adrenal hyperplasia (@DISEASE$) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and @PHENOTYPICFEATURE$.	has_symptom
+60d1d4b2d487f538d79fb91d46c69f7e89080e95	@DISEASE$ (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and @PHENOTYPICFEATURE$.	has_symptom
+5f8cce0c8c9946dabca34ebe358b2795eedc645e	Twenty-one-hydroxylase deficient congenital adrenal hyperplasia (@DISEASE$) causes glucocorticoid and mineralocorticoid deficiency, hyperandrogenism and @PHENOTYPICFEATURE$.	has_symptom
+81f84e5e509806b2b985a974e5079936ccf2623e	Twenty-one-hydroxylase deficient @DISEASE$ (CAH) causes glucocorticoid and mineralocorticoid deficiency, hyperandrogenism and @PHENOTYPICFEATURE$.	has_symptom
+d5ae28086f216cc5486d501bb42579d56bc0e24d	[Case of salt-losing @DISEASE$ due to 21-hydroxylase deficiency and a @PHENOTYPICFEATURE$ caused by early closure of epiphyseal lines in spite of steroid replacement therapy].	has_symptom
+6b0b2fe18b8597036ed2f18f0a82420a5ffcc5e1	@PHENOTYPICFEATURE$ in the adult patient with congenital adrenal hyperplasia (@DISEASE$) is commonly seen, even among patients in excellent adrenal control during childhood and puberty.	has_symptom
+c29f74cdc335263a1199a7ba2989a9749847ccd5	@PHENOTYPICFEATURE$ in the adult patient with @DISEASE$ (CAH) is commonly seen, even among patients in excellent adrenal control during childhood and puberty.	has_symptom
+6ff033caf9b4ff2ca30ea7a003280e142427a65a	Severe hirsutism, virilization, early onset of symptoms, @PHENOTYPICFEATURE$, familial occurrence, and regular menses were identified as the clinical characteristics associated with late-onset @DISEASE$.	has_symptom
+ae0aa84071b2c24081af3c74ad5bbcef9e503335	@DISEASE$ was suspected based on the history of precocious puberty, @PHENOTYPICFEATURE$ and a profound suppression of cortisol production by dexamethasone.	has_symptom
+6dcbd254ed3bfb6ffca507692de8b8c3f03c9dab	Adolescents and adults with @DISEASE$ experience a number of complications, including @PHENOTYPICFEATURE$, obesity, infertility, tumor, osteoporosis, and reduced quality of life.	has_symptom
+01d66ebc86f338ab4cf8883a19ab2d20458354f3	Adolescents and adults with CAH experience a number of complications, including short stature, obesity, @DISEASE$, @PHENOTYPICFEATURE$, osteoporosis, and reduced quality of life.	false
+427fe86f94e01291a05113133062cd8099ea889e	Adolescents and adults with CAH experience a number of complications, including @DISEASE$, obesity, infertility, @PHENOTYPICFEATURE$, osteoporosis, and reduced quality of life.	false
+461240d53536b1db4cccbb56bfbef9d1315e52de	Adolescents and adults with CAH experience a number of complications, including short stature, @PHENOTYPICFEATURE$, @DISEASE$, tumor, osteoporosis, and reduced quality of life.	false
+5ac21cd372a1fc09b030cb46ba5e9ffd6c563116	Adolescents and adults with CAH experience a number of complications, including @DISEASE$, @PHENOTYPICFEATURE$, infertility, tumor, osteoporosis, and reduced quality of life.	false
+79b2d657b348dd3152197e087e056068d9fd4df8	Adolescents and adults with @DISEASE$ experience a number of complications, including short stature, obesity, infertility, @PHENOTYPICFEATURE$, osteoporosis, and reduced quality of life.	false
+347010b7b6e4cc1f26250a82ffa373dea8a49adb	Adolescents and adults with @DISEASE$ experience a number of complications, including short stature, @PHENOTYPICFEATURE$, infertility, tumor, osteoporosis, and reduced quality of life.	false
+6c2c5f782e5fb2ee0c0748118d6e6be5a1824c42	These include: peripheral precocious puberty secondary to @DISEASE$, familial male-dominant precocious puberty, and McCune-Albright syndrome, short stature in boys secondary to growth hormone deficiency, familial/genetic short stature, constitutional growth delay or idiopathic @PHENOTYPICFEATURE$.	has_symptom
+0ce26264db4d3977b3308ca10d89de5b5fab9d3e	These include: peripheral precocious puberty secondary to @DISEASE$, familial male-dominant precocious puberty, and McCune-Albright syndrome, @PHENOTYPICFEATURE$ in boys secondary to growth hormone deficiency, familial/genetic short stature, constitutional growth delay or idiopathic short stature.	has_symptom
+f90193ecdcaf3b36c94a69e108df35af18162695	These include: peripheral precocious puberty secondary to @DISEASE$, familial male-dominant precocious puberty, and McCune-Albright syndrome, short stature in boys secondary to growth hormone deficiency, familial/genetic @PHENOTYPICFEATURE$, constitutional growth delay or idiopathic short stature.	has_symptom
+cf282c193f298cfe3df299459ddd79ac370e6411	Bone growth oscillation: longitudinal metabolic process of bone growth in @DISEASE$ and nonendocrine @PHENOTYPICFEATURE$.	has_symptom
+836db627f9241fa2b13b2369b3bef55b698fcb4b	@DISEASE$ (CAH) is well recognized as a disorder which can result in virilization of females, accelerated skeletal maturation and resultant adult @PHENOTYPICFEATURE$ in both genders, and, in certain varieties, life-threatening adrenal crisis.	has_symptom
+918fb95ac681ac1dd99f9e98f1e8acf8edfa31a9	Congenital adrenal hyperplasia (@DISEASE$) is well recognized as a disorder which can result in virilization of females, accelerated skeletal maturation and resultant adult @PHENOTYPICFEATURE$ in both genders, and, in certain varieties, life-threatening adrenal crisis.	has_symptom
+b210a70404a96564d75599f408b9ece8671caa60	Coffin-Siris Syndrome (@DISEASE$) is an @PHENOTYPICFEATURE$ disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex.	has_symptom
+3bb4e621af0067799f9b00d41c6766bd9869cf0f	@DISEASE$ (CSS) is an @PHENOTYPICFEATURE$ disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex.	has_symptom
+606b61462e42556861b0e1de3840a1250e793e86	@DISEASE$ (CSS) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+797aa8c65e08adf36089babe3bfa614bf38206ca	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+051746ee7023fbd19530aefb6ddbdd66d6850b42	Coffin-Siris syndrome (CSS) is characterized by growth deficiency, @DISEASE$, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+e82dfe2532cce0b614105bb90d0f6c27231a8e2a	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+6e2480eb4de4af034f0ba30df015761adfbcb1f7	@DISEASE$ (CSS) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+4c3d0601ecaea938c1a56c48d0a35e0e10776b10	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+ccab5e8f1e8faee0a676008fc3ae579c9f39f4e1	Coffin-Siris syndrome (CSS) is characterized by growth deficiency, @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+ae69cd6907120ac84d3f3046dd90e3f0629e78a4	@DISEASE$ (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+6c202178914d360276ba272d3ed156c922ce62d2	Coffin-Siris syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes.	has_symptom
+07ee326d218f1212f1803bfa6a273010a3db8586	@DISEASE$ (CSS) is characterized by @PHENOTYPICFEATURE$, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes.	has_symptom
+ebea5f515b2802d25b48e913a4568efe25179d09	Coffin-Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic @DISEASE$ features, growth deficiency, @PHENOTYPICFEATURE$, and abnormalities of the fifth fingers/toes.	false
+103b44737bac4c300210798cb575db64ac5a4782	@DISEASE$ (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, @PHENOTYPICFEATURE$, and abnormalities of the fifth fingers/toes.	false
+c1844cf36da7a46145352359c9d86a4a9754497b	Coffin-Siris syndrome (CSS) is characterized by @DISEASE$, dysmorphic facial features, growth deficiency, @PHENOTYPICFEATURE$, and abnormalities of the fifth fingers/toes.	false
+b14c1dcfe835e2af9f52cff8456e31bf1d1c3e6a	Coffin-Siris syndrome (@DISEASE$) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, @PHENOTYPICFEATURE$, and abnormalities of the fifth fingers/toes.	false
+b05d4e86416b9175c6ca2208e41af454fe2c2e2d	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by @PHENOTYPICFEATURE$, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	has_symptom
+97903ab20c9ba5017cdc487a2c7a2e49ffaf7771	@DISEASE$ (CSS) is a congenital disorder characterized by @PHENOTYPICFEATURE$, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	has_symptom
+40d4faa77e6ea5610a91a3f58caaaa25cbbc6e01	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by @DISEASE$, growth deficiency, @PHENOTYPICFEATURE$, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	false
+1a6da1369f0115e4a58701908722989f8d3275fb	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by intellectual disability, growth deficiency, @PHENOTYPICFEATURE$, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	false
+c23649e46f04c69da59e225c531ee668a0872057	@DISEASE$ (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, @PHENOTYPICFEATURE$, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	false
+01ea8f08af9b4b9a9d78e4c6db33a66a3233d127	Coffin-Siris syndrome (@DISEASE$; OMIM#135900) is a rare congenital anomaly syndrome characterized by @PHENOTYPICFEATURE$, coarse face, hypertrichosis, and absence/hypoplasia of the fifth digits' nails.	has_symptom
+95732548162be40f8e3609d80982b6ae68d9b530	@DISEASE$ (CSS; OMIM#135900) is a rare congenital anomaly syndrome characterized by @PHENOTYPICFEATURE$, coarse face, hypertrichosis, and absence/hypoplasia of the fifth digits' nails.	has_symptom
+6aa14deb3e4033ae7532874edd5db2fb336f6971	@DISEASE$ is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome with phenotypic variability [OMIM 135900].	has_symptom
+ff0e7f85d4e77570e5aef8ffd61b670ecb5d8c68	Coffin-Siris syndrome (@DISEASE$) and Nicolaides-Baraitser syndrome (NCBRS) are rare @PHENOTYPICFEATURE$/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap.	has_symptom
+776d506d80a298d9b92401d00abaaf6695e16e0f	@DISEASE$ (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare @PHENOTYPICFEATURE$/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap.	has_symptom
+695beffd59ac7b0c7bf0c5bab657dde1c3070f66	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+6a1102f693896ed6fd4a8ec02915f1820530df46	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+5c6cebac4d40c81a80ee135e1ff196702f234ede	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+8eedbae88faeb07806a10fa339c0bc9ca1dcf56e	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, @DISEASE$, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+5b82249c9528515a75e97b87c509b5ead00bc2ec	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+08247519ef9a73f7bb8ad975140142f271d2d953	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, @DISEASE$, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+4242fa68ba2a5b0f562a8f09c4e9e3af285b2537	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+c05863ca0e817a5d56f56c9b4f7cc16ffa7a5479	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+dad7ed5939072a08bcda82fa12cc566e8e825143	Coffin-Siris syndrome (@DISEASE$, MIM#135900) is a congenital disorder characterized by coarse facial features, @PHENOTYPICFEATURE$, and hypoplasia of the fifth digit and nails.	has_symptom
+a435b7862f24753b019b85d2bba7472673d279fc	@DISEASE$ (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, @PHENOTYPICFEATURE$, and hypoplasia of the fifth digit and nails.	has_symptom
+f275cc9a344b357165b3758cdbe60fcdf909f5e2	@DISEASE$ is a rare congenital malformation and @PHENOTYPICFEATURE$ syndrome.	has_symptom
+1d699bbb92770287555e74fcb55bfc9bac3391fd	The twins had the characteristic facial features of @DISEASE$, and they suffered from @PHENOTYPICFEATURE$, cleft lip and palate and congenital heart disease.	has_symptom
+334a03bbc3cb4cc8a9613b19967539a60a2c2c24	@DISEASE$ (OMIM 147920) is a rare disorder characterised by moderate intellectual disability, growth retardation, @PHENOTYPICFEATURE$ and characteristic facial dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	has_symptom
+fca2182ed314b923cd21fe56fd7ef6c15e6fc09a	Kabuki syndrome (OMIM 147920) is a rare disorder characterised by moderate @PHENOTYPICFEATURE$, growth retardation, microcephaly and characteristic @DISEASE$ dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	false
+b91195c22028d4ddfb91619fd70611bd298ab6e7	@DISEASE$ (OMIM 147920) is a rare disorder characterised by moderate intellectual disability, @PHENOTYPICFEATURE$, microcephaly and characteristic facial dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	false
+9a8039e49a858488b37a1417506f81c10413e31a	Kabuki syndrome (OMIM 147920) is a rare disorder characterised by moderate intellectual disability, @PHENOTYPICFEATURE$, microcephaly and characteristic @DISEASE$ dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	false
+9e89a12e22e60ceaa85035416f170492d286d719	Kabuki syndrome (OMIM 147920) is a rare disorder characterised by moderate @PHENOTYPICFEATURE$, growth retardation, @DISEASE$ and characteristic facial dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	false
+34b4477d8bf2b5a4ac0158617d3393957c1cc416	Kabuki syndrome (OMIM 147920) is a rare disorder characterised by moderate intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$ and characteristic facial dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	false
+e27c7f3d2bd09d5028d6fb322b268c7d0dba209e	@DISEASE$ (OMIM 147920) is a rare disorder characterised by moderate @PHENOTYPICFEATURE$, growth retardation, microcephaly and characteristic facial dysmorphic features which comprise long palpebral fissures, eversion of the lateral third of the eyelids and arched eyebrows with lateral sparseness.	false
+fe72330bca8a4abf9d013946a3cca55111db4335	The delayed relaxation or sustained contraction of skeletal muscle-@PHENOTYPICFEATURE$-is frequently seen in myotonic dystrophy and sodium channelopathies (hyperkalemic periodic paralysis, @DISEASE$).	has_symptom
+7a489968af13182a544e069abb27acad2d609f7e	For example, @PHENOTYPICFEATURE$ or profound weakness may be observed in sodium channel disease (e.g., @DISEASE$ or hyperkalemic periodic paralysis), depending on the specific channel defect or with slight changes in membrane potential.	has_symptom
+cd848f090b1cfcce8cb78b6000b2fbbb187e7a11	@PHENOTYPICFEATURE$ manifests in several hereditary diseases, including hyperkalemic periodic paralysis (HyperPP), @DISEASE$ (PMC), and potassium-aggravated myotonia (PAM).	has_symptom
+c88325005bd3366f6d533b1441daf9a9a86ebbea	Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital @PHENOTYPICFEATURE$ (@DISEASE$, 9, associated with acetylcholine receptor deficiency [MIM:616325]).	has_symptom
+6e625e459d1e9c5d2e5a4b68fe78cf12ef3835d6	The predictive value of single-fiber electromyography in determining which patients with ocular @PHENOTYPICFEATURE$ will develop generalized disease, the risk of crisis after thymectomy, and 2 papers discussing new forms of @DISEASE$ are discussed.	has_symptom
+bb5b0350c8084304bb6aabc4364da8ad515adcb0	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is a form of X-linked @PHENOTYPICFEATURE$ (XLMR) with characteristic minor physical anomalies.	has_symptom
+dc32e32d8af03c424100fc9c9efc32134b26a17c	A detailed map of genetic markers was constructed around the gene for the X-linked @PHENOTYPICFEATURE$ syndrome of B?rjeson-Forssman-Lehmann (@DISEASE$).	has_symptom
+b6070c6f395da251fffc3cae61362f10f6d5a3bc	Importantly, deregulation of PHF6 function in neuronal migration triggers the formation of white matter heterotopias that harbor neuronal hyperexcitability, which may be relevant to the pathogenesis of @PHENOTYPICFEATURE$ and seizures in @DISEASE$.	has_symptom
+6467d315259e1e5825ce1af602b21c2e864a4b68	Importantly, deregulation of PHF6 function in neuronal migration triggers the formation of white matter heterotopias that harbor neuronal hyperexcitability, which may be relevant to the pathogenesis of @DISEASE$ and @PHENOTYPICFEATURE$ in BFLS.	false
+a9ee7438e636b7366a1d6d722c80d3e3b1be1c7d	Importantly, deregulation of PHF6 function in neuronal migration triggers the formation of white matter heterotopias that harbor neuronal hyperexcitability, which may be relevant to the pathogenesis of intellectual disability and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4f5e6e2bf542fb6c8c60e0aa5be8350d59edfde9	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is a rare X-linked @PHENOTYPICFEATURE$ syndrome that is caused by germline mutations in PHF6.	has_symptom
+5ab8db290e2b547cc18227658ba2e717b3f8ef01	Furthermore, two CSS patients were reported to have a PHF6 abnormality, which can also cause @DISEASE$ (OMIM#301900), an X-linked @PHENOTYPICFEATURE$ syndrome with epilepsy and endocrine abnormalities.	has_symptom
+79f448dd9c0dde5e388aa16693097ab521cad966	A 28-year-old man with @PHENOTYPICFEATURE$ and multiple congenital malformations was found to have the classical features of @DISEASE$.	has_symptom
+2377dddbe7b24e51da5f4d3dd144b6618a1ebe1f	Mutations of the X-linked protein?PHF6 cause the @PHENOTYPICFEATURE$ disorder B?rjeson-Forssman-Lehmann syndrome (@DISEASE$).	has_symptom
+873bad45ed4e72688bc011ae1e691416037d2a71	The Plant homeodomain finger gene 6 (PHF6) was identified as the gene mutated in patients suffering from the B?rjeson-Forssman-Lehmann Syndrome (@DISEASE$), an X-linked @PHENOTYPICFEATURE$ disorder.	has_symptom
+0325c50d3a05283da4b8ccb87777847d11b44ba8	Mutations of the transcriptional regulator PHF6 cause the X-linked @PHENOTYPICFEATURE$ disorder B?rjeson-Forssman-Lehmann syndrome (BFLS), but the pathogenesis of @DISEASE$ remains poorly understood.	has_symptom
+be0b8c7d1027d0752fce6ce94803ff26fc5cdb1e	Mutations of the transcriptional regulator PHF6 cause the X-linked @PHENOTYPICFEATURE$ disorder B?rjeson-Forssman-Lehmann syndrome (@DISEASE$), but the pathogenesis of BFLS remains poorly understood.	has_symptom
+97cb36f0c16c084a16bd80c29741e41f95ea6e0c	Although ARHGEF6 is unlikely to be the gene responsible for either @DISEASE$ or MRX27, it remains a prime candidate for nonspecific or syndromic @PHENOTYPICFEATURE$ linked to Xq26.	has_symptom
+be5227a787496e3281a64d13e9da643335a61ac4	@DISEASE$ is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by abdominal pain, rash, @PHENOTYPICFEATURE$, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	has_symptom
+bea29d51a886a07ad95e1f7825a40c539f7a8cbc	@DISEASE$ is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by @PHENOTYPICFEATURE$, rash, vomiting, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+42cab3cf600b63fde927565dc2b79fe3ee662857	Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by @PHENOTYPICFEATURE$, rash, vomiting, @DISEASE$, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+be30198658678d6fc7a95648c8a1b27addfa6c8d	Hyperimmunoglobulinemia D syndrome is another example of @DISEASE$ and patients have recurrent fever attacks for 3-7 days accompanied by @PHENOTYPICFEATURE$, rash, vomiting, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+4331f8213b2ce311b08361564fc046cbdcf11622	Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by @PHENOTYPICFEATURE$, rash, vomiting, diarrhea, arthralgia, @DISEASE$, aphthous ulcers, and cervical lymphadenopathy.	false
+ffc447bcae46d994d5298d37b3c045822e9dc50d	Hyperimmunoglobulinemia D syndrome is another example of periodic fever syndromes and patients have recurrent fever attacks for 3-7 days accompanied by @PHENOTYPICFEATURE$, rash, @DISEASE$, diarrhea, arthralgia, arthritis, aphthous ulcers, and cervical lymphadenopathy.	false
+4703711d526df89f72b9e16117db646e00da38d7	Familial hypercholesterolemia (@DISEASE$) is an @PHENOTYPICFEATURE$ genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels.	has_symptom
+3361d9474d73dfba89c6526ba33c8d23a872eaab	In this study, we report a patient with suspected @DISEASE$ presenting with seizures, @PHENOTYPICFEATURE$, scoliosis, dystonia, symmetrical putaminal abnormalities and a lactate peak on brain MRS, but showing normal MRC enzymology in muscle and liver, thereby complicating the diagnosis.	has_symptom
+267755da67a70713977746f8e1983542d5e70dca	In this study, we report a patient with suspected Leigh syndrome presenting with @PHENOTYPICFEATURE$, @DISEASE$, scoliosis, dystonia, symmetrical putaminal abnormalities and a lactate peak on brain MRS, but showing normal MRC enzymology in muscle and liver, thereby complicating the diagnosis.	false
+fd26741a2862ec99cee5ed879b8f4e5c9989be90	In this study, we report a patient with suspected Leigh syndrome presenting with @PHENOTYPICFEATURE$, ptosis, @DISEASE$, dystonia, symmetrical putaminal abnormalities and a lactate peak on brain MRS, but showing normal MRC enzymology in muscle and liver, thereby complicating the diagnosis.	false
+b867f00a196f614bb618b4aad4bd06f8f679668f	In this study, we report a patient with suspected @DISEASE$ presenting with @PHENOTYPICFEATURE$, ptosis, scoliosis, dystonia, symmetrical putaminal abnormalities and a lactate peak on brain MRS, but showing normal MRC enzymology in muscle and liver, thereby complicating the diagnosis.	false
+453b7761726edb79e00f9a53b1696845e8f7613f	In this study, we report a patient with suspected Leigh syndrome presenting with @PHENOTYPICFEATURE$, ptosis, scoliosis, @DISEASE$, symmetrical putaminal abnormalities and a lactate peak on brain MRS, but showing normal MRC enzymology in muscle and liver, thereby complicating the diagnosis.	false
+42a9b4347cb5cbcf92f0287d1d6e86102f5ad20f	Patient 4 presented with neurological regression mimicking @DISEASE$, with @PHENOTYPICFEATURE$, myoclonus, ataxia and brainstem and cerebellar atrophy.	has_symptom
+5d193e455081a46c44c95912821d5dad22909925	Patient 4 presented with neurological regression mimicking @DISEASE$, with ptosis, myoclonus, @PHENOTYPICFEATURE$ and brainstem and cerebellar atrophy.	false
+0f0a52b6813080277328d886c23674b38f7506c3	Patient 4 presented with neurological regression mimicking Leigh disease, with @DISEASE$, myoclonus, @PHENOTYPICFEATURE$ and brainstem and cerebellar atrophy.	false
+912ba49c5053417479f0b12b344fbba43f36a509	Bruck syndrome (BS) is a disorder characterized by joint @PHENOTYPICFEATURE$ and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease @DISEASE$ (OI).	has_symptom
+fab85935bcab5da1c7ea405ce7c6d50ce4cf6f80	Bruck syndrome (BS) is a disorder characterized by joint @PHENOTYPICFEATURE$ and skeletal dysplasia that shows strong clinical overlap with the @DISEASE$ osteogenesis imperfecta (OI).	has_symptom
+5191e9ce5b81afc2e15f27c8a2b7122811b906e6	Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the brittle bone disease @DISEASE$ (OI).	false
+86a7f185ee5f22722b5a4cf5e015933d1bfe9f55	@DISEASE$ (BS) is a disorder characterized by joint flexion contractures and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI).	false
+4c03c00e093d41d3b2123a1455cf38c1ddabb0a4	Bruck syndrome (BS) is a disorder characterized by joint @DISEASE$ and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI).	false
+5aca44183147878166ded9c723b52f251e51281b	Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the @DISEASE$ osteogenesis imperfecta (OI).	false
+97b0a3bbd49652c3d8642c1a395ca4b9df218f8a	The patients described here are affected by severe autosomal recessive @DISEASE$ without @PHENOTYPICFEATURE$.	has_symptom
+81d4b67e1b0ea10d35556f178bbbb10ed0441a63	We report on maternal first cousins with bilateral microtia, @PHENOTYPICFEATURE$, cleft palate and hematologic findings of @DISEASE$ (DBA).	has_symptom
+0477be6573fa9e109345a3add3675d9725f5be00	We report on maternal first cousins with bilateral microtia, micrognathia, @PHENOTYPICFEATURE$ and hematologic findings of @DISEASE$ (DBA).	false
+0672899d0dbd92980d2064067ba948adebb01fdb	We report on maternal first cousins with bilateral microtia, @DISEASE$, @PHENOTYPICFEATURE$ and hematologic findings of Diamond-Blackfan anemia (DBA).	false
+7009813fbd2e1740c235e8ee35596f7d3ebe21fd	@DISEASE$ type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and @PHENOTYPICFEATURE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	has_symptom
+501911221f8e9b8d21ecfdcbcb40966d9b7ca382	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and @DISEASE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+40dde808064182cea3b862eadd7898279b1b6e9b	@DISEASE$ type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+42f09722780f3294a0d0ae2079755500d6f64993	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and hyperphosphatemia, in most cases without evidence for @DISEASE$ (AHO).	false
+0d46420a8b6ad53dc649b0bae01dc913bcd87c72	@DISEASE$ in a @PHENOTYPICFEATURE$ boy.	has_symptom
+44c1d78ae0c8bea3cea2fadc3f8254ba9b506b3a	Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and @PHENOTYPICFEATURE$: nosology of @DISEASE$.	has_symptom
+794c6d2ac226e88c521a2e9b3e07565b8bfc75de	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, hearing impairment, and @DISEASE$: nosology of dysosteosclerosis.	false
+19d4eb487d89eeff5a3dbd52b23ef37d0c00f599	Skeletal dysplasia, intracerebral calcifications, @PHENOTYPICFEATURE$, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+ce102326c70bc136aa17555bf0b6d69f1eed5574	Skeletal dysplasia, intracerebral calcifications, @PHENOTYPICFEATURE$, hearing impairment, and @DISEASE$: nosology of dysosteosclerosis.	false
+53061192a6c64d6484388dff354095825b7dbf24	Skeletal dysplasia, @PHENOTYPICFEATURE$, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+99b1323bcbb6d514d65dff06e7653320dbca0fc8	Skeletal dysplasia, intracerebral calcifications, optic atrophy, @PHENOTYPICFEATURE$, and @DISEASE$: nosology of dysosteosclerosis.	false
+1d2de3f483d477ee36eaa32024879414830ec66e	Skeletal dysplasia, intracerebral calcifications, optic atrophy, @PHENOTYPICFEATURE$, and mental retardation: nosology of @DISEASE$.	false
+c3d8da11669574bd831d5312fc507953c5c9c6f0	Skeletal dysplasia, @PHENOTYPICFEATURE$, optic atrophy, hearing impairment, and @DISEASE$: nosology of dysosteosclerosis.	false
+7f78c2bf70083f74d7c368e16d5befec702d26b7	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+877129c71d0d3bbb5ad197888230da69b4550b09	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), @PHENOTYPICFEATURE$, diarrhea and failure to thrive are indicative of @DISEASE$.	has_symptom
+fe3ce8197f1c877dbefc5f8678e09d4c47cf91aa	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), vomiting, diarrhea and @PHENOTYPICFEATURE$ are indicative of @DISEASE$.	false
+e62b4158c5531385bbd1581c747827005de7b58d	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), vomiting, @DISEASE$ and @PHENOTYPICFEATURE$ are indicative of Wolman disease.	false
+1fe1d829e89fd5fc24b21b01ce015dd26aa44c70	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), @DISEASE$, diarrhea and @PHENOTYPICFEATURE$ are indicative of Wolman disease.	false
+b9aefd18ef63c621e4b4a5e6d0edd34a8353959c	The complete deficiency of LAL is responsible of @DISEASE$ (WD), a severe systemic disease manifesting in the first days of life with @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	has_symptom
+92f8cc726fd4b70e4a6753e8d688dd6a8048a63e	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe @DISEASE$ manifesting in the first days of life with vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+8d3dc7f7f04743eb6fa2b05eccec2b6aca7128c1	The complete deficiency of LAL is responsible of @DISEASE$ (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+82729858fbf09e854a5c739b0954893360e18c21	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+2a5fc5518c580052c65dd34eeca5f2d7a7abad84	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, anemia, and @DISEASE$.	false
+aa58978e3fb4f1909bdd3eda4b1946480d68c6e5	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, @DISEASE$, and thrombocytopenia.	false
+89a652b7296adce0366a27ccfa92f600477ca577	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+e11945331aba9520bfd238060daa5dd6260fa571	The clinical features of @DISEASE$ include early onset of @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification.	has_symptom
+fa2c03e727ab2384055526cf099c5112e371f9d9	The clinical features of Wolman disease include early onset of @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, and bilateral adrenal calcification.	false
+7238865e14779ec48803c993b7680f5d77ecab57	The clinical features of @DISEASE$ include early onset of vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, and bilateral adrenal calcification.	false
+1f7d67db5cbe6e63aab245ac9826278eeb8d94b4	The clinical features of Wolman disease include early onset of vomiting, @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, and bilateral adrenal calcification.	false
+22e433d794a6359f741b9cba7d737fb4faa613b5	The clinical features of @DISEASE$ include early onset of @PHENOTYPICFEATURE$, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth.	has_symptom
+2ad5b4ba2c1e639646130ad442b113896eb22da8	@DISEASE$ (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and @PHENOTYPICFEATURE$.	has_symptom
+f0733e37cdbe1c6d06a1e511d766ca94ab886e9f	Chediak-Higashi syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and @PHENOTYPICFEATURE$.	has_symptom
+9e6180e4b2942ee18d5d34fc9c306d162d44301f	Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, severe immunologic deficiency with @DISEASE$ and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities.	false
+329abd76c6141bec4b8a464d99178d6890793874	Chediak-Higashi syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities.	false
+9586fd24132820189de1b0120aaaf0c515a3bd77	@DISEASE$ (CHS) is a rare, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities.	false
+6c382b959f6b42f2e9c483e617ff6ec5d5e2d850	Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and @DISEASE$.	false
+40dde808064182cea3b862eadd7898279b1b6e9b	@DISEASE$ type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @PHENOTYPICFEATURE$ and hyperphosphatemia, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	has_symptom
+7009813fbd2e1740c235e8ee35596f7d3ebe21fd	@DISEASE$ type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and @PHENOTYPICFEATURE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+6976824773e9468ea33de6e9fd8c3036f79122a4	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus @DISEASE$ and @PHENOTYPICFEATURE$, in most cases without evidence for Albright hereditary osteodystrophy (AHO).	false
+bb2d49f2c8eead175bbd31fdf1d99d4569337d90	Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and @PHENOTYPICFEATURE$, in most cases without evidence for @DISEASE$ (AHO).	false
+9a2b6cd496db4a41156fd9d816428294604711f8	Kallmann-@DISEASE$ (KS) is a genetic disease of the olfactory system characterized by the association of hypogonadotropic hypogonadism also referred to as gonadotropin-releasing hormone (GnRH) deficiency and @PHENOTYPICFEATURE$ or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).	has_symptom
+79aac3036854221b07e7583801815dd1c5c7bc73	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, @PHENOTYPICFEATURE$, ectodermal abnormalities and mental retardation.	has_symptom
+e99efbbfd20076d7b5b8b1b59210a11899b036b4	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, @DISEASE$, ectodermal abnormalities and mental retardation.	false
+eea8b653bd19dab2ea63062f4b1c4f744952705e	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/@PHENOTYPICFEATURE$ @DISEASE$ characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+2e96f0882a5166c83e55e465a2d7744af13aa64b	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation @DISEASE$ characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+7edb9e40faa88c5f1abd3f2eb6877c145d4e6e9d	(Cardiofaciocutaneous CFC) syndrome is a multiple @DISEASE$/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and @PHENOTYPICFEATURE$.	false
+4e1c69aae1d5cbabe31b71d76338d7bb31a5f1ff	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+ea0a8afb53da7efe361aada8d7dd22a48073db60	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation @DISEASE$ characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and @PHENOTYPICFEATURE$.	false
+bcf93a0e57b3b14550a215f2e856eabf25765565	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/mental retardation syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+eb5b3d8085665485a6dc376e3420ad014d156d8d	(Cardiofaciocutaneous CFC) syndrome is a multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+af6ef45f93cefc9b145dda151ee2925821eb2bce	(Cardiofaciocutaneous @DISEASE$ is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and @PHENOTYPICFEATURE$.	false
+70be2f90fd3bc3657d0d20af3119ed3c1a5b98d0	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by congenital heart defects, characteristic facial appearance, @DISEASE$, ectodermal abnormalities and mental retardation.	false
+25193a7f3797bc3aeb8d540b897eb199d9179169	(Cardiofaciocutaneous CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, @DISEASE$, ectodermal abnormalities and @PHENOTYPICFEATURE$.	false
+fc2d2442f4d9757a91c3db24ac154f602803e280	(Cardiofaciocutaneous CFC) syndrome is a multiple @DISEASE$/mental retardation syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.	false
+16da2cdd5e275d9688482635ff240b54aa89ae06	@PHENOTYPICFEATURE$, developmental delay, language difficulties and ectodermal anomalies were more frequent in @DISEASE$ patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05).	has_symptom
+7f82889e72f2774365abfed66d4bafe95a9d31c5	Together with recent findings of BRAF, MEK1, and MEK2 mutations in @DISEASE$ and HRAS mutations in Costello syndrome, another clinically related disorder, it has now become clear that Noonan-like features (@PHENOTYPICFEATURE$, relative macrocephaly, facial anomalies, learning difficulties) that are found in these three related disorders are a result of constitutive activation of the Ras-Raf-extracellular signal-regulated and mitogen-activated protein kinase pathway.	has_symptom
+35e2388879de5db8f57e3a8396541f413a067a4b	We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (@DISEASE$) syndrome, two clinically overlapping disorders characterized by @PHENOTYPICFEATURE$, distinct facial anomalies, heart defects, and other developmental abnormalities.	has_symptom
+76273063760fc4224b7b2284d00eddedb9e69b89	We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (@DISEASE$) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, @PHENOTYPICFEATURE$, and other developmental abnormalities.	false
+502c52ec05d46f40a23a4f02e82d542d45f7cd7d	We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct @DISEASE$ anomalies, @PHENOTYPICFEATURE$, and other developmental abnormalities.	false
+045e71765a476cbb7d30cef691894b7494c93e10	We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) syndrome, two clinically overlapping disorders characterized by @DISEASE$, distinct facial anomalies, @PHENOTYPICFEATURE$, and other developmental abnormalities.	false
+702eb20f41cfad7ea97b20cb4180ce5e1cb70f29	We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) @DISEASE$, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, @PHENOTYPICFEATURE$, and other developmental abnormalities.	false
+484f8564b00f3c5e66bd2e1b67f1f7f46e8ae5fd	They represent the extreme of a spectrum of congenital defects recently reported independently as @DISEASE$ by Reynolds and as "Noonan-like @PHENOTYPICFEATURE$ syndrome with sparse hair" by Baraitser and Patton.	has_symptom
+513801101af93bae4ac24829d7c752505cfa1363	Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (@DISEASE$) syndrome, which is characterized by congenital heart defects, distinctive facial features, @PHENOTYPICFEATURE$ and ectodermal abnormalities.	has_symptom
+314b416734f079ddb79a67cc3ac5c80d87dd538c	Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (@DISEASE$) syndrome, which is characterized by @PHENOTYPICFEATURE$, distinctive facial features, short stature and ectodermal abnormalities.	false
+e4fb023b77832c33f879379e338a41629e9d7cb5	Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized by @PHENOTYPICFEATURE$, distinctive facial features, @DISEASE$ and ectodermal abnormalities.	false
+e121de2dbb6df2cce09275e044de9abd68a8819a	Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized by @PHENOTYPICFEATURE$, distinctive @DISEASE$ features, short stature and ectodermal abnormalities.	false
+cb90b2ba6ce408b896f00e41859f93cff3f7c7e0	Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, distinctive facial features, short stature and ectodermal abnormalities.	false
+478c0867a74ae09b63c5ec5166f50c0bc0583edb	We describe on a young woman who presents clinical features of NS (@PHENOTYPICFEATURE$, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of @DISEASE$ patients.	has_symptom
+b413273b14381f88aae4428fe7613e97454dd83f	We describe on a young woman who presents clinical features of NS (@DISEASE$, triangular facies, with downslanting palpebral fissures and apparent @PHENOTYPICFEATURE$, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of CFC patients.	false
+50903317a8a44edeca5d33d990d3464bfa44f246	We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/@PHENOTYPICFEATURE$, which are characteristic of @DISEASE$ patients.	false
+19e2238d6a93020cc39038d18b0402e487a4d93c	We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent @PHENOTYPICFEATURE$, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of @DISEASE$ patients.	false
+e901215eff12be408b544aad113cafa6f73964c2	We describe on a young woman who presents clinical features of NS (@DISEASE$, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/@PHENOTYPICFEATURE$, which are characteristic of CFC patients.	false
+e8cd9170e5d0c9e273f3ea0c6119e5e1b14668a8	We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (@DISEASE$) syndrome, two clinically overlapping disorders characterized by @PHENOTYPICFEATURE$, distinct facial anomalies, heart defects, and other abnormalities.	has_symptom
+4aaebf3b2f89f7991bd9ede781d2e4b8786e7cf4	We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) syndrome, two clinically overlapping disorders characterized by @DISEASE$, distinct facial anomalies, @PHENOTYPICFEATURE$, and other abnormalities.	false
+964d6866798ff8d231b9e406a673906c6cdf9d4e	We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct @DISEASE$ anomalies, @PHENOTYPICFEATURE$, and other abnormalities.	false
+7fa6e91a1a5046af5f5f711518d5cd78c435c474	We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (@DISEASE$) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, @PHENOTYPICFEATURE$, and other abnormalities.	false
+568efa67fa7e543a934de6798f9be16eecdbb4e5	We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) @DISEASE$, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, @PHENOTYPICFEATURE$, and other abnormalities.	false
+74d6cc5f60599e9e19ff42f4eafcf30af1ed5597	The classical @DISEASE$ phenotype (progressive @PHENOTYPICFEATURE$, psychomotor retardation, and behavioral abnormalities) was observed in 3 Turkish siblings.	has_symptom
+a8e17187dc820ad82cd68c6dc9312ff9b032e67e	The classical @DISEASE$ phenotype (progressive speech delay, psychomotor retardation, and @PHENOTYPICFEATURE$) was observed in 3 Turkish siblings.	false
+ef1bc11bab7c6e4a932367add9d493092005c03a	The classical aspartylglucosaminuria phenotype (progressive @DISEASE$, psychomotor retardation, and @PHENOTYPICFEATURE$) was observed in 3 Turkish siblings.	false
+cacf5795aa1885305b63c89840278676c9b6ab32	@DISEASE$ (EA2) is characterized by paroxysmal bouts of @PHENOTYPICFEATURE$ and progressive cerebellar dysfunction.	has_symptom
+4bf43055b43afab830896d41011688e84b69e49d	@DISEASE$ (EA2) is an autosomal dominant channelopathy characterized by paroxysmal @PHENOTYPICFEATURE$.	has_symptom
+39124b2c9d09b59eeb0f8a2f43123c773664f32b	@DISEASE$ (EA2) is characterized by prolonged episodes of @PHENOTYPICFEATURE$ with interictal nystagmus and is caused by mutations in CACNA1A.	has_symptom
+28ce6b5ac26f4b99522952754facf7ca497f9fa2	@DISEASE$ (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar @PHENOTYPICFEATURE$ 6 (SCA6).	has_symptom
+722ef24de3d120906cb785e80156bce635bc0a25	CACNA1A loss-of-function mutations classically present as @DISEASE$ (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar @PHENOTYPICFEATURE$ (SCA6).	has_symptom
+5f65ff36df53875ae282bd6063157de967730606	CACNA1A loss-of-function mutations classically present as @DISEASE$ (EA2), with brief episodes of @PHENOTYPICFEATURE$ and nystagmus, or with progressive spinocerebellar ataxia (SCA6).	has_symptom
+9abc9528c54579f8205f7b9686aa7f95cb609e52	@DISEASE$ is an autosomal dominant disorder with attacks of vertigo and @PHENOTYPICFEATURE$ which respond to acetazolamide treatment.	has_symptom
+0f46c7bd00c3152c65031fb79dd6d59dc4fde13c	@DISEASE$ (EA-2) is an inherited disorder that is characterized by intermittent vertigo, @PHENOTYPICFEATURE$, and interictal gaze-evoked nystagmus.	has_symptom
+c232a598f709049dc5336bee7d76aa593614ea28	@DISEASE$ (EA2) is an autosomal-dominant hereditary disorder clinically characterized by recurrent attacks of vertigo, imbalance and @PHENOTYPICFEATURE$.	has_symptom
+43b2b8cf351f4af2f9f62ec7faa6b294718eda7e	@DISEASE$ is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and @PHENOTYPICFEATURE$.	has_symptom
+7bc0c66dc0d74262474a28c6bac5cbad6ba563b0	@DISEASE$ (EA2) is characterized by recurrent attacks of vertigo and @PHENOTYPICFEATURE$ lasting hours triggered by emotional stress or exercise.	has_symptom
+5a4d595480b223035654941e25766047f29a43e8	Patients with @DISEASE$ are characterized by reduced skin and hair pigmentation and consequent photosensitivity, actinic damage and risk of skin cancer, and by @PHENOTYPICFEATURE$ and nystagmus.	has_symptom
+3838d0dc9b9d74d430dcb42991247aa412cdfd70	Gene localization in a family with X-linked syndromal @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+61fd2556bf434200424d1284e9ecae85ad3fdac0	However, the subsequent description of the genes involved in XLSA with @PHENOTYPICFEATURE$, thiamine-responsive megaloblastic anemia, and @DISEASE$ have implicated other pathways, including mitochondrial oxidative phosphorylation, thiamine metabolism, and iron-sulfur cluster biosynthesis, as primary defects in sideroblastic anemias that may only secondarily impact heme metabolism.	has_symptom
+3f1b23c05cb01946fd01cb79fe8bc9773cdc183f	Diseases treated were: Leigh syndrome (n=7), polymerase ? deficiency (n=5), MELAS (n=5), Friedreich @PHENOTYPICFEATURE$ (n=2), Kearns-Sayre syndrome, @DISEASE$, and mtDNA depletion syndrome.	has_symptom
+50c254abb1236448e2f68791c7d69d40d9b51dfd	These observations support the notion that one aspect of @PHENOTYPICFEATURE$ in @DISEASE$ is a pathological elevation of endolymphatic [Ca(2+)] due to luminal acidification and consequent inhibition of TRPV5/6-mediated Ca(2+) absorption.	has_symptom
+31da59546649e4c1952c6a9c00508909a8f872e6	@DISEASE$ is an '@PHENOTYPICFEATURE$ (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2.	has_symptom
+df792fec6bb52eab10dcdb2534906f6491b43a2c	In addition to the lactic acidosis associated with @DISEASE$, ten of the cases showed evidence of facial dysmorphism consisting of a narrow head, wide nasal bridge and flared nostrils or gross @PHENOTYPICFEATURE$.	has_symptom
+d1da41ec1740623497e968d94f79060b4f7f91eb	Parameters studied were @PHENOTYPICFEATURE$ reduction, platelet GABA-T activity, and steady-state plasma concentrations (@DISEASE$) of GVG and VPA.	has_symptom
+191ea11c577ed718ad4ef28f8f8f2896b057941c	Chromosome substitution strains (@DISEASE$), in which a single chromosome from one inbred strain (donor) has been transferred onto a second strain (host) by repeated backcrossing, may be used to identify quantitative trait loci (QTLs) that contribute to @PHENOTYPICFEATURE$ susceptibility.	has_symptom
+872fe8100ed99ccfee018acf5e6efbe5cfea4fe3	@PHENOTYPICFEATURE$ reduction was correlated with dosage (r = 0.83, p less than 0.001), but not with @DISEASE$ or with platelet GABA-T inhibition.	has_symptom
+95871958ffec6e85c45aac75995d900ae0168e44	Pulmonary disease is a central feature of pediatric @DISEASE$, but other manifestations include skin lesions, testicular pain, hypertension, @PHENOTYPICFEATURE$, and nephropathy.	has_symptom
+bb9bc744b7de05d3ada0ff97b9f769aab876c2ab	The relationship between vigabatrin gamma-vinyl GABA (GVG, vigabatrin) daily dosage or steady-state plasma concentrations (@DISEASE$), platelet GABA-transaminase (GABA-T) inhibition, and @PHENOTYPICFEATURE$ reduction were studied in 16 children with refractory epilepsy.	has_symptom
+ccf560c8707be4fbdbd816ae253bdad7fb8960cd	QTLs for susceptibility to pilocarpine-induced @PHENOTYPICFEATURE$, a model of temporal lobe epilepsy, have not been reported, and @DISEASE$ have not previously been used to localize seizure susceptibility genes.	has_symptom
+88280c30abe52b04503412a7b859c7f10f6639cb	QTLs for susceptibility to pilocarpine-induced seizures, a model of temporal lobe epilepsy, have not been reported, and @DISEASE$ have not previously been used to localize @PHENOTYPICFEATURE$ susceptibility genes.	has_symptom
+7b0985fc38780838f996cbd3a71601ee343bf09c	Osteopetrosis is divided into four types: malignant infantile @DISEASE$, intermediate osteopetrosis, and two types of autosomal @PHENOTYPICFEATURE$.	has_symptom
+9ae4f612a12478fa1c2e550e86d13b7ffd1d817c	To describe a patient with infantile @DISEASE$ and @PHENOTYPICFEATURE$ secondary to optic canal stenosis who demonstrated optic canal enlargement after bone marrow transplant.	false
+f1eea999daf036b6e1c1e9facb3faeb4c99d2907	@DISEASE$ and @PHENOTYPICFEATURE$ in cattle.	false
+5a26aba1da97b5f8c0c7fa1c3b83e563fb637877	The use of general anesthesia in patients with @DISEASE$ is dangerous, as there is a risk of @PHENOTYPICFEATURE$.	has_symptom
+95cbf2468df9751c1b914df4b722f342098a3ef2	@DISEASE$ is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and @PHENOTYPICFEATURE$.	has_symptom
+43e974825d3aa7fbaac428af934b7f68ca7675d1	Canavan disease is an autosomal recessive @DISEASE$ characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, @PHENOTYPICFEATURE$ and blindness.	false
+3d73a41d59193fa4edd9b4cfbaba6593d761ac6d	@DISEASE$ is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, @PHENOTYPICFEATURE$ and blindness.	false
+616ff5dae2365d4c079ad72bbeb0faf19d6b663d	Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f77394b15acd2b3135a5a7178b434352bd96f745	@PHENOTYPICFEATURE$, obesity, and growth hormone deficiency in @DISEASE$.	has_symptom
+fbf6801b9d5c8e1b519c350041e3b00d37a02b85	@DISEASE$, @PHENOTYPICFEATURE$, and growth hormone deficiency in pseudohypoparathyroidism type 1a.	false
+0363ef32b0e057527e4a46a6aaf92b5a9fe88e81	Short stature, @PHENOTYPICFEATURE$, and growth hormone deficiency in @DISEASE$.	false
+fe524bdbaafcb5c2728a50240633f0d121fdd7d4	@DISEASE$ (AHO) is characterized by @PHENOTYPICFEATURE$, brachydactyly, and often heterotopic ossifications that are typically subcutaneous.	has_symptom
+5ab59df37c017b5f52237a227448e6704df8e7b1	Albright hereditary osteodystrophy (AHO) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, and often heterotopic ossifications that are typically subcutaneous.	false
+6756770f7b5161a71a03948ce094619319edbae9	@DISEASE$ (AHO) is characterized by short stature, @PHENOTYPICFEATURE$, and often heterotopic ossifications that are typically subcutaneous.	false
+ca00f653ec47d5a3b9dc8eb149ead0b1e6eb105b	Physical findings showed typical features of @DISEASE$, including @PHENOTYPICFEATURE$, obesity, brachydactyly and dental hypoplasia.	has_symptom
+5de26f1431de333a405bae6525a8553d944e13e9	Physical findings showed typical features of Albright's hereditary osteodystrophy, including @DISEASE$, obesity, @PHENOTYPICFEATURE$ and dental hypoplasia.	false
+bafe4154d22311c167455cb705e9955e11493e1a	Physical findings showed typical features of @DISEASE$, including short stature, obesity, @PHENOTYPICFEATURE$ and dental hypoplasia.	false
+5508c577ea55fb2307e902ab3ef40e65bd3d42eb	Physical findings showed typical features of Albright's hereditary osteodystrophy, including @DISEASE$, @PHENOTYPICFEATURE$, brachydactyly and dental hypoplasia.	false
+500cf86691eb4b68f1a9e40eec3a8c0074a4f277	Physical findings showed typical features of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, brachydactyly and dental hypoplasia.	false
+7910ee99a1ff0baefe043a15d72c7ab536989ec1	@DISEASE$ (AHO) is a genetic disorder characterized by @PHENOTYPICFEATURE$, skeletal defects, and obesity.	has_symptom
+7da5d398a31bb8341b35645319082a93b20badc4	Albright hereditary osteodystrophy (AHO) is a genetic disorder characterized by @DISEASE$, skeletal defects, and @PHENOTYPICFEATURE$.	false
+e82111129fe37de8c6c733d0f708291cc6a1f349	Albright hereditary osteodystrophy (AHO) is a @DISEASE$ characterized by short stature, skeletal defects, and @PHENOTYPICFEATURE$.	false
+f2a2b9ae38787d90296d0948eb7016f76950967c	@DISEASE$ (AHO) is a genetic disorder characterized by short stature, skeletal defects, and @PHENOTYPICFEATURE$.	false
+9e8a0956ce3a88abfab90b89ea99242f1e7642b0	We encountered a 10-year-old girl with typical @DISEASE$ with round face, @PHENOTYPICFEATURE$, brachydactyly, and obesity.	has_symptom
+b5c29f4aa59f272878d1078ef5d7bc421ad509ea	We encountered a 10-year-old girl with typical @DISEASE$ with round face, short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+4c9711e1f76fe45eb850a3f55091cd647a17a3a1	We encountered a 10-year-old girl with typical @DISEASE$ with round face, short stature, @PHENOTYPICFEATURE$, and obesity.	false
+3859077c4a21c6168c8ff28b96731323d730f597	We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, @DISEASE$, @PHENOTYPICFEATURE$, and obesity.	false
+c1c84edcf2fab44c0421b72c86470b88d2e54848	We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, @DISEASE$, brachydactyly, and @PHENOTYPICFEATURE$.	false
+2c4246b663ca4a56f3f58e2365459de077c958b9	Her phenotype was in favor of @DISEASE$: @PHENOTYPICFEATURE$, obesity, round face, brachymetacarpy and mental retardation.	has_symptom
+29fade0881611bb7ba468331865dcbb4bdc79280	Her phenotype was in favor of Albright's hereditary osteodystrophy: @DISEASE$, obesity, round face, brachymetacarpy and @PHENOTYPICFEATURE$.	false
+da64f0acb52a6c2cd488646909d21052e61080c1	Her phenotype was in favor of Albright's hereditary osteodystrophy: @DISEASE$, @PHENOTYPICFEATURE$, round face, brachymetacarpy and mental retardation.	false
+b7e9e8e4d81a794c49e5d17618fcd0e9e1d92b4c	Her phenotype was in favor of @DISEASE$: short stature, @PHENOTYPICFEATURE$, round face, brachymetacarpy and mental retardation.	false
+58b4142b3a8e0ad926808e00844f83e614723c2b	Her phenotype was in favor of @DISEASE$: short stature, obesity, round face, brachymetacarpy and @PHENOTYPICFEATURE$.	false
+aa167e4286ce431171ea577d50d9094b9b2175be	@DISEASE$ (AHO) is characterized by @PHENOTYPICFEATURE$, round face, calcifications, obesity, brachydactyly and intellectual disability.	has_symptom
+fe6784f5e4d08462a1e3bd26fba4599d48f8d439	Albright's hereditary osteodystrophy (AHO) is characterized by @DISEASE$, round face, calcifications, @PHENOTYPICFEATURE$, brachydactyly and intellectual disability.	false
+00031188bc97c402b69c9d830b7eb11c787da274	Albright's hereditary osteodystrophy (AHO) is characterized by @DISEASE$, round face, calcifications, obesity, @PHENOTYPICFEATURE$ and intellectual disability.	false
+713d520e941e9a971b010ff550bf9d1fd8ef8238	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, obesity, @PHENOTYPICFEATURE$ and intellectual disability.	false
+439584609bb77cc11808a67c3024eb6dbcb1fa1c	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and @PHENOTYPICFEATURE$.	false
+9b548a9970ac3969057fbeb0cc45d1c61e5ffc35	Albright's hereditary osteodystrophy (AHO) is characterized by @DISEASE$, round face, calcifications, obesity, brachydactyly and @PHENOTYPICFEATURE$.	false
+940855ee20cc9144908a7cac8d33bd11b282fdb1	@DISEASE$ (AHO) is characterized by short stature, round face, calcifications, @PHENOTYPICFEATURE$, brachydactyly and intellectual disability.	false
+630f4f4f985d1e72e4e2678c9b2d76703b4139e1	Patients with PHP1a show @DISEASE$ including @PHENOTYPICFEATURE$.	has_symptom
+44010757f5d517fac8ce10d89e9aa3853007d37b	@DISEASE$ (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including brachydactyly/brachymetacarpia, @PHENOTYPICFEATURE$, and sc ossifications.	has_symptom
+5479d2b25b9b8be7ad38000b39ab7feac2f49661	Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including @PHENOTYPICFEATURE$/brachymetacarpia, @DISEASE$, and sc ossifications.	false
+fa3f719d656c420a845734bfef93db4c62efc022	Albright hereditary osteodystrophy (AHO) is a rare @DISEASE$ characterized by phenotypic abnormalities including @PHENOTYPICFEATURE$/brachymetacarpia, short stature, and sc ossifications.	false
+364205414f59148f80c80c121f2c0aa2a0b13f09	@DISEASE$ (AHO) is a rare genetic disorder characterized by phenotypic abnormalities including @PHENOTYPICFEATURE$/brachymetacarpia, short stature, and sc ossifications.	false
+f28408b5e23abb4b14f39c1bf77b21604be98b03	@DISEASE$ (AHO) is a characteristic skeletal phenotype, including @PHENOTYPICFEATURE$, obesity, round face, and brachydactyly.	has_symptom
+cbdaea15b7bd4633912340e60e85ecce6b8d89bb	Albright's hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including @DISEASE$, obesity, round face, and @PHENOTYPICFEATURE$.	false
+0cd1ba05ddfc3074439433123d1e7f022160e91f	Albright's hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including @DISEASE$, @PHENOTYPICFEATURE$, round face, and brachydactyly.	false
+0b7d3539008f69558b07d8ff59ddb8d27a9535a6	@DISEASE$ (AHO) is a characteristic skeletal phenotype, including short stature, obesity, round face, and @PHENOTYPICFEATURE$.	false
+f36d9261a1985b5051680b203143b1d2c0c9cc1c	@DISEASE$ (AHO) is a characteristic skeletal phenotype, including short stature, @PHENOTYPICFEATURE$, round face, and brachydactyly.	false
+847042b7dabee5cf8a75a72ff91265e6747dd3aa	@DISEASE$ (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, episodic lymphopenia, @PHENOTYPICFEATURE$, and cerebrovascular disease secondary to arteriosclerosis and myointimal hyperplasia.	has_symptom
+a0be3456fc3cf5aa2e88f871b6157efd1ca358d4	@DISEASE$ is an autosomal-recessive multisystem disorder with the prominent clinical features disproportionate growth failure, progressive @PHENOTYPICFEATURE$, and T-cell immunodeficiency.	has_symptom
+aecaa1a143885c8255688f6d16958b7d45e3756b	@DISEASE$ (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, @PHENOTYPICFEATURE$, T-cell immunodeficiency, and hypersensitivity to genotoxic agents.	has_symptom
+e67360a1b381d9f5ea9a3f7200b7c8b4d8d8ee7c	Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by @PHENOTYPICFEATURE$, renal failure, @DISEASE$, and hypersensitivity to genotoxic agents.	false
+1842377d0e4f3f46373f38a0eda382e1bfc25df3	@DISEASE$ (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by @PHENOTYPICFEATURE$, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents.	false
+739acd35567490eba209a0f838052f6166927474	Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, T-cell immunodeficiency, and hypersensitivity to genotoxic agents.	false
+58304c80cacf936d93d298d490d806b846e57d2f	For example, mutations in SMARCAL1 (also named HARP) cause @DISEASE$ (SIOD); a multi-system disorder characterized by growth defects, immune deficiencies, @PHENOTYPICFEATURE$ and other complex phenotypes.	has_symptom
+b3604c3ea175bf9dbc41554f4efef682a1b35ec2	The clinical phenotype of @DISEASE$ (SID) is characterized by growth retardation, @PHENOTYPICFEATURE$, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood.	has_symptom
+589162570ad0905738b0e61145f19bdbc795c0c8	The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by @PHENOTYPICFEATURE$, renal failure, recurrent infections, cerebral infarcts, and skin @DISEASE$ beginning in childhood.	false
+5ee06420b5870984002c56334533720ee8785d66	The clinical phenotype of @DISEASE$ (SID) is characterized by @PHENOTYPICFEATURE$, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood.	false
+7c0c034455c50b1423c70abfdad77a2fa7c70ecf	The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood.	false
+352691c2f2a1428e84461c9074551939c1cae5b7	@DISEASE$ (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, @PHENOTYPICFEATURE$ and immunodeficiency.	has_symptom
+9a047942f643562dbaaa7f4161c28b951e0231a3	Schimke immunoosseous dysplasia (SIOD) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, focal segmental glomerulosclerosis, renal failure and immunodeficiency.	false
+f2ab6b604f7e89ec27db3f3a5b094470d54c5255	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, focal segmental glomerulosclerosis, renal failure and @DISEASE$.	false
+5bf091c5e2232fa30d4968583670b1a0a9920afc	@DISEASE$ (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, focal segmental glomerulosclerosis, renal failure and immunodeficiency.	false
+da33bc1a25e0c72f0f2c90a00ae30b84d6434a9a	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, focal segmental glomerulosclerosis, @DISEASE$ and immunodeficiency.	false
+57d5d04fbe260884f0aa287659dbb5ef27dcbd5b	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, @DISEASE$, renal failure and immunodeficiency.	false
+389104cdb98bd878c18276479fe484c2d627d5cf	@DISEASE$ (SIOD) is a rare, autosomal recessive disorder of childhood with classical features of spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$, and T cell immunodeficiency.	has_symptom
+b6c0bdd2905d90c9f1a43043d7ad8297bad4ef8f	Mutations in SMARCAL1 cause @DISEASE$ (SIOD), an autosomal recessive multisystem developmental disease characterized by growth retardation, T-cell deficiency, bone marrow failure, anemia and @PHENOTYPICFEATURE$.	has_symptom
+3f330dd7336a13cbf3a595d7d73642d00b585c2f	Mutations in SMARCAL1 cause Schimke Immuno-Osseous Dysplasia (SIOD), an autosomal recessive multisystem developmental disease characterized by @PHENOTYPICFEATURE$, T-cell deficiency, bone marrow failure, @DISEASE$ and renal failure.	false
+ac224560434acd07c0b3c0a0772bf9fcfb7d02dc	Mutations in SMARCAL1 cause Schimke Immuno-Osseous Dysplasia (SIOD), an autosomal recessive multisystem developmental disease characterized by @PHENOTYPICFEATURE$, T-cell deficiency, bone marrow failure, anemia and @DISEASE$.	false
+f43005ae10c2cb0020f39dc361c7e346cb98cd55	Mutations in SMARCAL1 cause @DISEASE$ (SIOD), an autosomal recessive multisystem developmental disease characterized by @PHENOTYPICFEATURE$, T-cell deficiency, bone marrow failure, anemia and renal failure.	false
+4af9c4a1de3d68fa357a9a2ad4728e124700a5d9	@DISEASE$ (SIOD) is a rare, autosomal recessive disorder of childhood characterized by spondyloepiphyseal dysplasia, focal segmental glomerulosclerosis and @PHENOTYPICFEATURE$, T-cell immunodeficiency, and cancer in certain instances.	has_symptom
+7149c2a271c6a1e299e8a1d250e2917c3f5a92c3	@DISEASE$ (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or @PHENOTYPICFEATURE$.	has_symptom
+b23a89d6b1659c475390063f33cc2aea7aec57e5	Five children from 3 different families, presented several attacks of @DISEASE$ with peculiar features:--in 4/5 children the disease was familial; 4 presented 2 attacks, the 5th 3 attacks, separated by several months or years of time-interval;--the "bouts" were constantly marked by the initial high level of reticulocytes, rapid recovery of hematuria, renal failure and @PHENOTYPICFEATURE$;--overall, repeated biopsies of the kidney never showed any lesion of the basement membrane of the glomerular capillaries or of the arteriolar walls leading to the diagnosis of thrombotic microangiopathy;--all etiological enquiries to precise the cause of chronic hemolysis were negative.	has_symptom
+23b79aa7ebf4144e8a44d9089069ab154f9182bb	Five children from 3 different families, presented several attacks of hemolytic-uremic syndrome with peculiar features:--in 4/5 children the disease was familial; 4 presented 2 attacks, the 5th 3 attacks, separated by several months or years of time-interval;--the "bouts" were constantly marked by the initial high level of reticulocytes, rapid recovery of hematuria, @PHENOTYPICFEATURE$ and @DISEASE$;--overall, repeated biopsies of the kidney never showed any lesion of the basement membrane of the glomerular capillaries or of the arteriolar walls leading to the diagnosis of thrombotic microangiopathy;--all etiological enquiries to precise the cause of chronic hemolysis were negative.	false
+e5d79c307ef452f57d120c43b2c95c432e9ef8db	Five children from 3 different families, presented several attacks of hemolytic-uremic syndrome with peculiar features:--in 4/5 children the disease was familial; 4 presented 2 attacks, the 5th 3 attacks, separated by several months or years of time-interval;--the "bouts" were constantly marked by the initial high level of reticulocytes, rapid recovery of hematuria, @PHENOTYPICFEATURE$ and thrombocytopenia;--overall, repeated biopsies of the kidney never showed any lesion of the basement membrane of the glomerular capillaries or of the arteriolar walls leading to the diagnosis of @DISEASE$;--all etiological enquiries to precise the cause of chronic hemolysis were negative.	false
+bb4a28be59bd504230bf80a2bee1848b22c0b1a6	Five children from 3 different families, presented several attacks of @DISEASE$ with peculiar features:--in 4/5 children the disease was familial; 4 presented 2 attacks, the 5th 3 attacks, separated by several months or years of time-interval;--the "bouts" were constantly marked by the initial high level of reticulocytes, rapid recovery of hematuria, @PHENOTYPICFEATURE$ and thrombocytopenia;--overall, repeated biopsies of the kidney never showed any lesion of the basement membrane of the glomerular capillaries or of the arteriolar walls leading to the diagnosis of thrombotic microangiopathy;--all etiological enquiries to precise the cause of chronic hemolysis were negative.	false
+75d30e27bd3cf0a1d2a2f710b1846b256f4e9726	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	has_symptom
+b5d3cf1ddca1270b5fb189116a974196d8871c80	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@DISEASE$, polydactyly, @PHENOTYPICFEATURE$).	false
+98cf4fa9535b38b188c5c4a31169453ff4a66df7	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+05502d9bce4c0299fe9f8cbb60b78f826936e29c	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+e27c37573537f349c3edbb99c7c22ca46c5da418	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+bc3b97ef5eddb18fee007cc18bdc7a5745bfee0d	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@DISEASE$, @PHENOTYPICFEATURE$, syndactyly).	false
+2fbd83d988cad6cef1e7ee62645d7b9999174bcc	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+7ae71918648b600106a8363cdb3e428b06b2134d	Overexpression of either Shp2Thr468Met (a phosphatase-defective mutant found in Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and @PHENOTYPICFEATURE$ (LEOPARD) syndrome) or Shp2Asn308Asp (a phosphatase-active mutant found in @DISEASE$) with EphA2 exhibited comparable activation of Erk and stronger activation than wild-type Shp2, suggesting the phosphatase-independent Erk activation.	has_symptom
+19876a914a1846de4212658ed19fce717f00a559	Overexpression of either Shp2Thr468Met (a phosphatase-defective mutant found in Lentigines, Electrocardiographic abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness (LEOPARD) syndrome) or Shp2Asn308Asp (a phosphatase-active mutant found in @DISEASE$) with EphA2 exhibited comparable activation of Erk and stronger activation than wild-type Shp2, suggesting the phosphatase-independent Erk activation.	false
+99707a1e4d809fa899284fd3d1313af17e29ed77	Overexpression of either Shp2Thr468Met (a phosphatase-defective mutant found in Lentigines, Electrocardiographic abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and sensorineural Deafness (LEOPARD) @DISEASE$) or Shp2Asn308Asp (a phosphatase-active mutant found in Noonan syndrome) with EphA2 exhibited comparable activation of Erk and stronger activation than wild-type Shp2, suggesting the phosphatase-independent Erk activation.	false
+20ef6ab665f926d181927262294784edd629cf8d	Overexpression of either Shp2Thr468Met (a phosphatase-defective mutant found in Lentigines, Electrocardiographic abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and @DISEASE$ (LEOPARD) syndrome) or Shp2Asn308Asp (a phosphatase-active mutant found in Noonan syndrome) with EphA2 exhibited comparable activation of Erk and stronger activation than wild-type Shp2, suggesting the phosphatase-independent Erk activation.	false
+9320484c03493f653e687515a9637e113b052170	Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and @PHENOTYPICFEATURE$) syndrome is an autosomal dominant condition--characterized by lentigines and caf? au lait spots, facial anomalies, cardiac defects--that shares several clinical features with @DISEASE$ (NS).	has_symptom
+540408a1adb65f8a201250167622fad8e54ea22f	Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and caf? au lait spots, @DISEASE$ anomalies, cardiac defects--that shares several clinical features with Noonan syndrome (NS).	false
+5e5e5fa043a886c7c7ec0fef990ebae1354a895f	Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and @DISEASE$) syndrome is an autosomal dominant condition--characterized by lentigines and caf? au lait spots, facial anomalies, cardiac defects--that shares several clinical features with Noonan syndrome (NS).	false
+b09f6106cc39d8d64e803660a44b934faebf62fd	Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) @DISEASE$ is an autosomal dominant condition--characterized by lentigines and caf? au lait spots, facial anomalies, cardiac defects--that shares several clinical features with Noonan syndrome (NS).	false
+61e159d27146e392c7e2e5323a2ebd3ebb853145	Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and caf? au lait spots, facial anomalies, cardiac defects--that shares several clinical features with @DISEASE$ (NS).	false
+e6a563afc14de4bd7e1f0adf0cb2b6fbfe2976ee	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	has_symptom
+b52954187b25cf76ee50d7d0bcbfa83d16687820	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+d9c476a232b33cd75934e37f2383efd9d6e8001f	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, @DISEASE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+bea7b44ac46ef98399bae02e424d9f26d6b01cf1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+92a795e50fd5029b21ddb537de714d1b05319588	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to @DISEASE$ (MH).	false
+3d0207e0819b8078a9da24763032df6518650235	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @DISEASE$, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+76cf330647eb28707cd3e653733c6f30add381ec	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+72f8f2f32221571bb97f9a39f040e253dc4580a1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+ec86f985a7d3f491f3d01accd8caadde9050b569	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, @DISEASE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+0145c3c198a35ead9c7890e21064cb91b2876566	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+a9ee7438e636b7366a1d6d722c80d3e3b1be1c7d	Importantly, deregulation of PHF6 function in neuronal migration triggers the formation of white matter heterotopias that harbor neuronal hyperexcitability, which may be relevant to the pathogenesis of intellectual disability and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b6070c6f395da251fffc3cae61362f10f6d5a3bc	Importantly, deregulation of PHF6 function in neuronal migration triggers the formation of white matter heterotopias that harbor neuronal hyperexcitability, which may be relevant to the pathogenesis of @PHENOTYPICFEATURE$ and seizures in @DISEASE$.	false
+0e893606d001444d3496c6845df5b49a05b65797	Importantly, deregulation of PHF6 function in neuronal migration triggers the formation of white matter heterotopias that harbor neuronal hyperexcitability, which may be relevant to the pathogenesis of @PHENOTYPICFEATURE$ and @DISEASE$ in BFLS.	false
+883b545dda5a96632c0531e7faa9b8c8f468dfa6	Contrary to initial reports, our men with @DISEASE$ had no microcephaly, @PHENOTYPICFEATURE$, or short stature.	has_symptom
+b0284b9a0d8ae0c8af650876e6159d85e22753c4	Contrary to initial reports, our men with BFLS had no @PHENOTYPICFEATURE$, @DISEASE$, or short stature.	false
+931845832e26cc274164e6061067141af58c8f44	Contrary to initial reports, our men with @DISEASE$ had no @PHENOTYPICFEATURE$, seizures, or short stature.	false
+41f834ae899f96567db1a1ca0eb27d599055e3e3	Contrary to initial reports, our men with BFLS had no microcephaly, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+b20968dc4ba8f9c34fa9d5f3e8d167f5a506371a	Contrary to initial reports, our men with @DISEASE$ had no microcephaly, seizures, or @PHENOTYPICFEATURE$.	false
+2fd377bd57ca023c91d02bf7437d31863ce415ce	@DISEASE$ or benign childhood epilepsy with centrotemporal spikes is called benign because its @PHENOTYPICFEATURE$ are usually favourable and due to the spontaneous normalisation of the electroencephalogram on reaching puberty.	has_symptom
+8065e59f3692faa74cb1e1ab492f3f8b46ac07d1	Symptoms of ADHD are more common in some specific types of epilepsies, such as frontal lobe epilepsy, childhood absence epilepsy and @DISEASE$, and may antedate @PHENOTYPICFEATURE$ onset in a significant proportion of cases.	has_symptom
+ce421ade4b240dc8a9a160e282d807aad6751fb1	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional @PHENOTYPICFEATURE$ (neonatal/febrile seizures), this ranged between 40% and 23%, respectively.	has_symptom
+6056bc6ed3cf2f81914ca11c776c04c3418f2327	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/@PHENOTYPICFEATURE$), this ranged between 40% and 23%, respectively.	false
+a4a8711ee4e1b90fcd1537b54009fc6a4ea6793f	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile @PHENOTYPICFEATURE$ epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/febrile seizures), this ranged between 40% and 23%, respectively.	false
+c9d9d6bef3b0af302a708ddeab28110e626fcf9c	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - Rolandic epilepsy, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional @DISEASE$ (neonatal/@PHENOTYPICFEATURE$), this ranged between 40% and 23%, respectively.	false
+7316c8332b3ee5c4672f7438a306bf87c2e39e6e	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile @PHENOTYPICFEATURE$ epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - Rolandic epilepsy, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional @DISEASE$ (neonatal/febrile seizures), this ranged between 40% and 23%, respectively.	false
+ba69a3f0222c004fd808225617dc6e15b5c0b22e	All epilepsy syndrome groups (except @DISEASE$) were associated with decreased EF in addition to early epilepsy onset, high @PHENOTYPICFEATURE$ frequency, and polytherapy.	has_symptom
+32bff1b1995284f0d9d9617e234ddab882b8f25a	Infection of the peripheral nervous system with @DISEASE$ burgdorferi can present as a cranial neuropathy or radiculopathy with cerebrospinal fluid (CSF) pleocytosis and intrathecal antibody production against B. burgdorferi, or as an asymmetric @PHENOTYPICFEATURE$ with acrodermatitis chronica atrophicans (ACA) and normal CSF findings.	has_symptom
+bddf924cbc45200596a969a779a53e26a6eda44e	We evaluated 25 patients with @DISEASE$ and chronic @PHENOTYPICFEATURE$.	has_symptom
+09bb88116f772bedac59c0a0ca2bfddc87c1789a	We collected and investigated 21 patients with @PHENOTYPICFEATURE$ and with typical clinical and serologic signs of neuroborreliosis [@DISEASE$ neuropathy (BN)].	has_symptom
+3876b4f475a645f37c471b6c7eaf931ced3bcd00	We collected and investigated 21 patients with @PHENOTYPICFEATURE$ and with typical clinical and serologic signs of @DISEASE$ [Borrelia neuropathy (BN)].	has_symptom
+aa694c85373cfc3e4088dde95e77651d007a2d4a	Neurologic manifestations of @DISEASE$ include meningitis, encephalopathy, and cranial and @PHENOTYPICFEATURE$.	has_symptom
+44fbc32ca1900df626c9b8c7429c009edbf0cb11	Neurologic manifestations of Lyme disease include meningitis, @PHENOTYPICFEATURE$, and cranial and @DISEASE$.	false
+3f0955cb78ecd0a051116d651d716d9033749626	Neurologic manifestations of Lyme disease include @DISEASE$, @PHENOTYPICFEATURE$, and cranial and peripheral neuropathy.	false
+00f234c1a0852313207ad87656c77eb874d36564	Neurologic manifestations of @DISEASE$ include meningitis, @PHENOTYPICFEATURE$, and cranial and peripheral neuropathy.	false
+59218e7bf126aeb6184541582d391ec7f8dda41c	@PHENOTYPICFEATURE$ in acrodermatitis chronica atrophicans - a late @DISEASE$ manifestation.	has_symptom
+26a2942b896f8174d9b1467f6da39b938a4fef79	The late manifestations of @DISEASE$ included arthritis, cranial nerve palsy, @PHENOTYPICFEATURE$, chronic fatigue, and changes in mental function.	has_symptom
+0961dbb638b5f60de8c84d2a76748e531b080893	Oligoclonal IgM bands could be detected in 6 patients with @DISEASE$ or neurosyphilis as well as in one patient with a @PHENOTYPICFEATURE$ where other electrophoretic methods, including immunoelectrophoresis, were negative.	has_symptom
+13c2063dcdf11614b9227035c4495a367ee805aa	Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis, down-slanting palpebral fissures and @PHENOTYPICFEATURE$; @DISEASE$ was previously described in association with FLNA mutations in two individual case reports.	has_symptom
+5e61768bea985f60d03a2e0b9ad2658faf5e79c7	The oral and maxillofacial surgeon can be a key member in this team by offering expertise in the management of craniomaxillofacial anomalies including congenital tumors, facial clefts, @DISEASE$, @PHENOTYPICFEATURE$, and other congenital abnormalities.	has_symptom
+2a91e244fe99c1a45d4f6d671beb5c8caa4a1889	The oral and maxillofacial surgeon can be a key member in this team by offering expertise in the management of craniomaxillofacial anomalies including congenital @PHENOTYPICFEATURE$, facial clefts, craniosynostosis, micrognathia, and other @DISEASE$.	false
+f6a758afa212cdea2d7332bc997fc5f3de1ab905	The oral and maxillofacial surgeon can be a key member in this team by offering expertise in the management of craniomaxillofacial anomalies including congenital @PHENOTYPICFEATURE$, facial clefts, craniosynostosis, @DISEASE$, and other congenital abnormalities.	false
+c9a339db8e6534e6f0f6436698c6a1d4cc982ca8	The oral and maxillofacial surgeon can be a key member in this team by offering expertise in the management of craniomaxillofacial anomalies including congenital @PHENOTYPICFEATURE$, facial clefts, @DISEASE$, micrognathia, and other congenital abnormalities.	false
+d3cf76b45e71ef054910b8050ff51fd086fc88f2	The oral and maxillofacial surgeon can be a key member in this team by offering expertise in the management of craniomaxillofacial anomalies including congenital @PHENOTYPICFEATURE$, @DISEASE$, craniosynostosis, micrognathia, and other congenital abnormalities.	false
+2f509956e3dd39d88dbad0736a645271dc603a5c	For the OSDB patients with craniaomaxillomandibular deformities, such as @DISEASE$/@PHENOTYPICFEATURE$.	has_symptom
+4e9b987ce4aafa00f6f2c8967d5e1795a2e41120	Some craniofacial anomalies treated by distraction osteogenesis are @PHENOTYPICFEATURE$ due to hemifacial microsomia or temporomandibular joint ankylosis, and mid facial hypoplasia due to @DISEASE$.	has_symptom
+cccee0cf23b572db433f5e10fedcfb83c7a36f4e	Some craniofacial anomalies treated by distraction osteogenesis are @DISEASE$ due to hemifacial microsomia or temporomandibular joint ankylosis, and mid @PHENOTYPICFEATURE$ due to craniosynostosis.	false
+e4d849b1d9cb6558de77f0d1a815cfb212e2344a	Some craniofacial anomalies treated by distraction osteogenesis are mandibular hypoplasia due to hemifacial microsomia or temporomandibular joint ankylosis, and mid @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+921bd1f356a6b898fbee901627b9ef619eaf39b5	Some craniofacial anomalies treated by distraction osteogenesis are mandibular hypoplasia due to @DISEASE$ or temporomandibular joint ankylosis, and mid @PHENOTYPICFEATURE$ due to craniosynostosis.	false
+6ec75426e774ab95254b5d05954d6cc2b09214bd	Manifestations include @DISEASE$, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe @PHENOTYPICFEATURE$.	has_symptom
+3684293cebcc19a0f3b1d22deb9adcd3aa628f8b	Manifestations include craniosynostosis, @PHENOTYPICFEATURE$, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe @DISEASE$.	false
+62bdf7c52c34f1309c51dd1082e736a2091f88db	Manifestations include @DISEASE$, @PHENOTYPICFEATURE$, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia.	false
+952115dc7e3e2267a3375f07a2a67cd69f2f0000	Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including @DISEASE$, @PHENOTYPICFEATURE$, midfacial dysplasia, cleft lip/palate and oral/dental defects.	has_symptom
+6d8cf2d8cf4ee16a81c7e6d3e4016a4b52c99f10	Reported anomalies include growth retardation, absence or hypoplasia of the frontal bones, @DISEASE$, large fontanelle, ocular hypertelorism, short palpebral fissures, wide nasal bridge, malformed and low-set ears, and @PHENOTYPICFEATURE$.	has_symptom
+3d7f1dec3f1c5785c4523adc2fe6284b8ab9c341	Reported anomalies include @PHENOTYPICFEATURE$, absence or hypoplasia of the frontal bones, craniosynostosis, large fontanelle, ocular hypertelorism, short palpebral fissures, wide nasal bridge, malformed and low-set ears, and @DISEASE$.	false
+804536c71d7f926aa0675490208fb29a53d11183	Reported anomalies include @PHENOTYPICFEATURE$, absence or hypoplasia of the frontal bones, @DISEASE$, large fontanelle, ocular hypertelorism, short palpebral fissures, wide nasal bridge, malformed and low-set ears, and micrognathia.	false
+f065da6b4cc50fe63155515292a04143e2e0bdcc	Reported anomalies include growth retardation, absence or hypoplasia of the frontal bones, @DISEASE$, large fontanelle, @PHENOTYPICFEATURE$, short palpebral fissures, wide nasal bridge, malformed and low-set ears, and micrognathia.	false
+d8bcaa19b9d297e4835c9cc8b7f388258a3a0a94	Reported anomalies include growth retardation, absence or hypoplasia of the frontal bones, craniosynostosis, large fontanelle, @PHENOTYPICFEATURE$, short palpebral fissures, wide nasal bridge, malformed and low-set ears, and @DISEASE$.	false
+b58e8a3da0728614c9badce544d0a206451a1dcb	The oral and maxillofacial surgeon offers expertise in the management of craniomaxillofacial anomalies, including congenital tumors, facial clefts, @DISEASE$, @PHENOTYPICFEATURE$, and other congenital abnormalities.	has_symptom
+ca72646a7b8e1ae759806600c35c942ff1d16514	The oral and maxillofacial surgeon offers expertise in the management of craniomaxillofacial anomalies, including congenital @PHENOTYPICFEATURE$, facial clefts, craniosynostosis, micrognathia, and other @DISEASE$.	false
+73662f2215506bbbc2ab0b579aa2c19af92870e7	The oral and maxillofacial surgeon offers expertise in the management of craniomaxillofacial anomalies, including congenital @PHENOTYPICFEATURE$, @DISEASE$, craniosynostosis, micrognathia, and other congenital abnormalities.	false
+a9867460914c149932fe96850bcdbe21d7f7d345	The oral and maxillofacial surgeon offers expertise in the management of craniomaxillofacial anomalies, including congenital @PHENOTYPICFEATURE$, facial clefts, craniosynostosis, @DISEASE$, and other congenital abnormalities.	false
+f1e8ff4c3e51b81397e2ea1b71db0d8a3c9ad5ce	The oral and maxillofacial surgeon offers expertise in the management of craniomaxillofacial anomalies, including congenital @PHENOTYPICFEATURE$, facial clefts, @DISEASE$, micrognathia, and other congenital abnormalities.	false
+24ec942623c82a86910aeec58e81af386ed83399	Topics include cleft lip and palate, facial clefts, amniotic band sequence, @PHENOTYPICFEATURE$ and retrognathia, ocular and orbital abnormalities, @DISEASE$, posterior nuchal translucency, cephaloceles, vascular anomalies, and tumors.	has_symptom
+4e904c08788626d953aa34aca868a6eb42e1655a	Topics include @DISEASE$, facial clefts, amniotic band sequence, micrognathia and retrognathia, ocular and orbital abnormalities, craniosynostosis, posterior nuchal translucency, cephaloceles, vascular anomalies, and @PHENOTYPICFEATURE$.	false
+add814f77a1e83f8756479db308de185dc0578de	Topics include cleft lip and palate, facial clefts, amniotic band sequence, @DISEASE$ and retrognathia, ocular and orbital abnormalities, craniosynostosis, posterior nuchal translucency, cephaloceles, vascular anomalies, and @PHENOTYPICFEATURE$.	false
+b17e355714c75b6c6ee5208b725c8d6b16cc8b51	Topics include cleft lip and palate, facial clefts, amniotic band sequence, micrognathia and retrognathia, ocular and orbital abnormalities, @DISEASE$, posterior nuchal translucency, cephaloceles, vascular anomalies, and @PHENOTYPICFEATURE$.	false
+8a60f8dddcbdd27efbbf0a04e5deaaf2c268885b	Topics include cleft lip and palate, facial clefts, amniotic band sequence, micrognathia and retrognathia, ocular and orbital abnormalities, craniosynostosis, posterior nuchal translucency, cephaloceles, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ca4a3905f46b69735d023453c2940fb06da1eed7	Topics include cleft lip and palate, @DISEASE$, amniotic band sequence, micrognathia and retrognathia, ocular and orbital abnormalities, craniosynostosis, posterior nuchal translucency, cephaloceles, vascular anomalies, and @PHENOTYPICFEATURE$.	false
+38c13ac86f90db524e58694e3743faf3b6e71f4d	Children with a variety of craniofacial conditions, including cleft palate, @PHENOTYPICFEATURE$, @DISEASE$, and midface hypoplasia are at increased risk for OSAS.	has_symptom
+fef6a20c09a72fbbd5bd4c2a3057e645597585e7	Children with a variety of craniofacial conditions, including @PHENOTYPICFEATURE$, @DISEASE$, craniosynostosis, and midface hypoplasia are at increased risk for OSAS.	false
+f892391ad6c0bb609c09e8838811691369703340	Children with a variety of craniofacial conditions, including @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, and midface hypoplasia are at increased risk for OSAS.	false
+52be6aee8d265259d8019afd3eb8d9966aafd517	When patients present with @PHENOTYPICFEATURE$ and absent later wave components on auditory brainstem response, type 2 @DISEASE$ should be included in the differential diagnosis even in the absence of other neurological abnormalities.	has_symptom
+c6e231e00e124ab89b2511da7b95847bbf951a48	When patients present with deafness and absent later wave components on auditory brainstem response, type 2 @DISEASE$ should be included in the differential diagnosis even in the absence of other @PHENOTYPICFEATURE$.	false
+fe9a991c3c72e905bf5fc1e1092bda347a0d05ba	When patients present with @DISEASE$ and absent later wave components on auditory brainstem response, type 2 Gaucher disease should be included in the differential diagnosis even in the absence of other @PHENOTYPICFEATURE$.	false
+0be2fdb69f16d5c5dee8133fd67b1731dc670957	Hydrocephalus, corneal opacities, @PHENOTYPICFEATURE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	has_symptom
+06b941023fc8a6521cf19cfd3d7e8e3436928a9a	Hydrocephalus, @PHENOTYPICFEATURE$, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	false
+81286671f7330a8613b96f9903a8e7f02964146f	Hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+325bb0767b63e4fa0062d37d275d9e1358bbd90d	Hydrocephalus, @PHENOTYPICFEATURE$, deafness, @DISEASE$, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+afb90b50707a6f42f15a26a7fa29ab75d8c42417	ARID1B mutations in @DISEASE$ are a cause of intellectual disability (0.5-1%), with various degrees of autism and @PHENOTYPICFEATURE$ (10%).	has_symptom
+a8d918d1e6656d0f0965bb7a9c68b87ea640b496	ARID1B mutations in Coffin-Siris syndrome are a cause of @PHENOTYPICFEATURE$ (0.5-1%), with various degrees of autism and @DISEASE$ (10%).	false
+af3a944c954310261cf3cc646ad0d9d0f39eb281	ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of @PHENOTYPICFEATURE$ and @DISEASE$ (10%).	false
+4bf11346800c3e21b4fefb999deb952b342e9c58	ARID1B mutations in @DISEASE$ are a cause of intellectual disability (0.5-1%), with various degrees of @PHENOTYPICFEATURE$ and agenesis of the corpus callosum (10%).	false
+1687969b3add610a90dba738fecadda30ad1cab1	ARID1B mutations in @DISEASE$ are a cause of @PHENOTYPICFEATURE$ (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%).	false
+efcb800e1a15ad15b4679eaa95e87b3db1206325	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @PHENOTYPICFEATURE$.	has_symptom
+abe43afd32288bb0e21c9bd79edd9e47be4e70c3	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @PHENOTYPICFEATURE$.	has_symptom
+7b0b15ef0a95adfce70cd818c40cd9da15585e6d	Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @DISEASE$.	false
+eb75e58898a72ee8af917c1751f250b2b1835883	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, @PHENOTYPICFEATURE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+5ba1bad996d65bf3121bb395b67d891a3caec498	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+1687b696e54659c975e803d48c48817ac433b9b2	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+8decc59614dad9f6454976301d6deab03cb7b37f	Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, @PHENOTYPICFEATURE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @DISEASE$.	false
+686d8a82264155fe9b7a769fab30725d985a731c	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, @PHENOTYPICFEATURE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+51f96ad59d13c4c359b2851ec8629b8794da3718	Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of @DISEASE$ with cardiac defect and multiple brain malformations including @PHENOTYPICFEATURE$ and Dandy Walker malformation.	has_symptom
+b852ee6ff3559599e10994461ceb58c348504a95	@DISEASE$ should be considered in differential diagnosis of any infant with pancytopenia, @PHENOTYPICFEATURE$, diarrhea, and vomiting.	has_symptom
+a5fcb5858564afe3b2a38f2648816cafaf790cff	Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+253f58e492be6fdd48e59a7e06f856730d7890ec	Transcobalamin II deficiency should be considered in differential diagnosis of any infant with @DISEASE$, failure to thrive, diarrhea, and @PHENOTYPICFEATURE$.	false
+fcf2dc422fffe3e232f2fde9101ad119d03dc31d	@DISEASE$ should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and @PHENOTYPICFEATURE$.	false
+ac7a40b4ae67001b92890ce610c5fb785ad04794	Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, @DISEASE$, diarrhea, and @PHENOTYPICFEATURE$.	false
+3f84a66cf6477060525bb9896856b52ef9b9a988	Multiple central nervous system abnormalities have been reported in @DISEASE$, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, @PHENOTYPICFEATURE$, and hypoplasia of the olfactory bulbs.	has_symptom
+a5e6340e63b010ca9dd17406d6ca2e6a80252676	Multiple central nervous system abnormalities have been reported in @DISEASE$, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, @PHENOTYPICFEATURE$, enlarged ventricles, and hypoplasia of the olfactory bulbs.	false
+6732716e6882274f08e9ff1bfaae2d0818eb9dee	Multiple central nervous system abnormalities have been reported in @DISEASE$, including @PHENOTYPICFEATURE$, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs.	false
+4110553a15cd694e98e4d5c50a1eedb5eb2bf500	Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, @PHENOTYPICFEATURE$, @DISEASE$, and hypoplasia of the olfactory bulbs.	false
+6880890f1b6958dba7fc33c941b75c705bc68d31	Multiple central nervous system abnormalities have been reported in Fryns syndrome, including @PHENOTYPICFEATURE$, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, @DISEASE$, and hypoplasia of the olfactory bulbs.	false
+df24678e3d398bfa6328dacbb7d41790e0bb3ea6	Here, we report a female who demonstrated a neonatal onset of @DISEASE$, eventually showing the highly characteristic skin lesions together with @PHENOTYPICFEATURE$ and a generalized weakness as part of her systemic disorder.	has_symptom
+e2e4347e76802e7312ad8a58dd5f8da1ee21bd62	Posterior subcapsular cataract may be associated with @DISEASE$ in addition to previously reported findings, including visual field defects, third cranial nerve palsies, @PHENOTYPICFEATURE$, and optic atrophy.	has_symptom
+b01af0f091c132fecc12e9890305710c23f15291	Posterior subcapsular cataract may be associated with @DISEASE$ in addition to previously reported findings, including visual field defects, third cranial nerve palsies, blepharoptosis, and @PHENOTYPICFEATURE$.	false
+e7472dcdfb178d63d2db3abaf87bf4febcb24753	Posterior subcapsular cataract may be associated with Degos disease in addition to previously reported findings, including visual field defects, third cranial nerve palsies, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+72c7beafaa93eb069ca9566773d981553b2b654d	Posterior subcapsular @DISEASE$ may be associated with Degos disease in addition to previously reported findings, including visual field defects, third cranial nerve palsies, blepharoptosis, and @PHENOTYPICFEATURE$.	false
+cd076c6b5dd54c82f58612fef38ee90faa1602cd	Two months after cutaneous biopsies were taken, the patient developed @PHENOTYPICFEATURE$ and an episode of acute abdominal pain; intestinal perforation and many characteristic lesions of visceral @DISEASE$ involving the entire small bowel were noted at laparotomy.	has_symptom
+ef5fa36b6deff83334081e977b4e65d50d0f808c	@DISEASE$ with SMON almost always has a high occurrence of @PHENOTYPICFEATURE$, but other sensory disturbances are slight or absent, while common adult SMON is just the opposite.	has_symptom
+2bb88ec6c7bd315443ea6c2c3d5f294eff3ab5d6	The symptoms emerging in the course of disease are hearing loss, @PHENOTYPICFEATURE$, and vertigo, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as @DISEASE$.	has_symptom
+1575c8783361ca2e3b104269135f841408001b80	The symptoms emerging in the course of disease are hearing loss, tinnitus, and @PHENOTYPICFEATURE$, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as @DISEASE$.	false
+60fa2f491597f3ecb93f066d95b7dcf6b68b50e4	The symptoms emerging in the course of disease are @DISEASE$, tinnitus, and @PHENOTYPICFEATURE$, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as Meniere disease.	false
+e082e04299dc648834c42f2cde722ffb375c1163	The symptoms emerging in the course of disease are hearing loss, @DISEASE$, and @PHENOTYPICFEATURE$, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as Meniere disease.	false
+41a2457acae616789e3ba20e627b837058462e8f	If only the combination of sensorineural hearing loss, recruitment, and @PHENOTYPICFEATURE$ is accepted as a definite proof of the diagnosis of @DISEASE$, at least 10% of the patients we studied suffer from bilateral Meniere disease.	has_symptom
+f5838ca1a73e64f9743b418dd2ee66ab4dae0355	If only the combination of @PHENOTYPICFEATURE$, recruitment, and @DISEASE$ is accepted as a definite proof of the diagnosis of Meniere disease, at least 10% of the patients we studied suffer from bilateral Meniere disease.	false
+cabd0459dd11728c3345f2c5ff621da668dd534b	If only the combination of @PHENOTYPICFEATURE$, recruitment, and tinnitus is accepted as a definite proof of the diagnosis of @DISEASE$, at least 10% of the patients we studied suffer from bilateral Meniere disease.	false
+cf0a2e03dd075179d30fffb0a0ee3d4a5d7b9de1	In the inner ear, the role of KCNE3 is undefined, despite its association with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+350ef110ea332f6905f381c41cfb6b3e074fa928	ELST often present with sensorineural hearing loss, @PHENOTYPICFEATURE$, and vertigo, which may mimic @DISEASE$.	has_symptom
+1712904c56e43b3aa659de43fd2d7b9ebc93fd3a	ELST often present with @PHENOTYPICFEATURE$, tinnitus, and vertigo, which may mimic @DISEASE$.	false
+b16cf5cd97176e5751994295c03b60ef4f78e142	ELST often present with sensorineural hearing loss, tinnitus, and @PHENOTYPICFEATURE$, which may mimic @DISEASE$.	false
+85ee8d147633ef8f623d9cf658387a5fe2a55b06	ELST often present with @PHENOTYPICFEATURE$, @DISEASE$, and vertigo, which may mimic Meniere disease.	false
+f7e065c3832b9b5ade91637e7a4e333daf8d9125	ELST often present with sensorineural hearing loss, @DISEASE$, and @PHENOTYPICFEATURE$, which may mimic Meniere disease.	false
+52c87e2baf6a8202d827017ccdbfadfb6c22ded4	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with hearing loss, @PHENOTYPICFEATURE$ and vertigo, or with early diagnosis of @DISEASE$.	has_symptom
+c74ee18aa660df2ad4f61d7c509bf1d4a953aa69	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with hearing loss, tinnitus and @PHENOTYPICFEATURE$, or with early diagnosis of @DISEASE$.	false
+e66ef9405dba2a712b6792d67be180d7685fbe34	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with @DISEASE$, tinnitus and @PHENOTYPICFEATURE$, or with early diagnosis of Meniere disease.	false
+a9e5e21d0a63c0769c666cfd5ca4c87e6256ba70	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with hearing loss, @DISEASE$ and @PHENOTYPICFEATURE$, or with early diagnosis of Meniere disease.	false
+0e98206caccedbc79d388c980fb83d50f4afb9bf	The effect of surgery for vertigo on @PHENOTYPICFEATURE$ was evaluated in 90 patients who underwent surgery for disabling vertigo for @DISEASE$.	has_symptom
+27902b7dd714e13a29229c41c60fa983b96154c1	@DISEASE$ includes symptoms of fluctuating hearing loss, @PHENOTYPICFEATURE$, and subjective ear fullness accompanied by episodic vertigo.	has_symptom
+691697d36b902ea9604de1511ba38214387c6447	Meniere disease includes symptoms of fluctuating @DISEASE$, tinnitus, and subjective ear fullness accompanied by episodic @PHENOTYPICFEATURE$.	false
+e3ed789ede1296fdd00c937d47ed1f9e63a0e923	Meniere disease includes symptoms of fluctuating hearing loss, @DISEASE$, and subjective ear fullness accompanied by episodic @PHENOTYPICFEATURE$.	false
+684d7b4d94550338d4c15216c1cd82ff95948321	@DISEASE$ includes symptoms of fluctuating hearing loss, tinnitus, and subjective ear fullness accompanied by episodic @PHENOTYPICFEATURE$.	false
+72de26ae6262550fd3a3adf1477e6dc485a6acc9	Despite the lack of clear evidence for their effectiveness in treating vertigo, @PHENOTYPICFEATURE$, hearing loss and aural fullness, diuretics, represent a common treatment for @DISEASE$ (MD), as they are supposed to decrease volume and pressure in the endolymphatic partition of the labyrinth.	has_symptom
+230ac20976ba16122022557581d784b0cd83c3c3	Recently reports suggest an increased frequency of @PHENOTYPICFEATURE$ and central nervous system involvement in autosomal recessive @DISEASE$.	has_symptom
+eb332828bfb4bd69754a1f98a5e9e589462c643d	Subjects consisted of 55 normal healthy subjects, 11 patients diagnosed as having vestibular neuritis (VN), 6 patients diagnosed as having sudden @PHENOTYPICFEATURE$ (SD) with vertigo, 23 patients diagnosed as having @DISEASE$ (MD), 11 patients diagnosed as having benign paroxysmal positional vertigo (BPPV) and 14 patients diagnosed as having other vestibular disorders.	has_symptom
+649dace4ce9b2aeb9af296e2507e250407bb6bd0	Subjects consisted of 55 normal healthy subjects, 11 patients diagnosed as having vestibular neuritis (VN), 6 patients diagnosed as having sudden deafness (SD) with @PHENOTYPICFEATURE$, 23 patients diagnosed as having @DISEASE$ (MD), 11 patients diagnosed as having benign paroxysmal positional vertigo (BPPV) and 14 patients diagnosed as having other vestibular disorders.	false
+5ebb9bac2a338279c10a6e07133634e1d23d73f5	Subjects consisted of 55 normal healthy subjects, 11 patients diagnosed as having @DISEASE$ (VN), 6 patients diagnosed as having sudden deafness (SD) with @PHENOTYPICFEATURE$, 23 patients diagnosed as having Meniere disease (MD), 11 patients diagnosed as having benign paroxysmal positional vertigo (BPPV) and 14 patients diagnosed as having other vestibular disorders.	false
+b40fe7d9fa464ecfa2c040400263209b162ebe51	Subjects consisted of 55 normal healthy subjects, 11 patients diagnosed as having vestibular neuritis (VN), 6 patients diagnosed as having sudden @DISEASE$ (SD) with @PHENOTYPICFEATURE$, 23 patients diagnosed as having Meniere disease (MD), 11 patients diagnosed as having benign paroxysmal positional vertigo (BPPV) and 14 patients diagnosed as having other vestibular disorders.	false
+8eb753bdda8a35e7197467813ad26d6d9a1c7296	(1) The top 10 diagnosis in disease spectrum were aortitis media, vertigo, noise-induced @PHENOTYPICFEATURE$, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, vestibular dysfunction, chronic rhinitis and @DISEASE$.	has_symptom
+19c71e853d466b52b7042f72bf1f96e14b7cfad9	(1) The top 10 diagnosis in disease spectrum were aortitis @DISEASE$, @PHENOTYPICFEATURE$, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, vestibular dysfunction, chronic rhinitis and Meniere disease.	false
+0e8d7b1c7041bd1fad10ea28053ee80dd5946ba9	(1) The top 10 diagnosis in disease spectrum were @DISEASE$ media, @PHENOTYPICFEATURE$, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, vestibular dysfunction, chronic rhinitis and Meniere disease.	false
+fc4682ca0a39db7c6f1a8c1ddbc3361b23f3d84e	(1) The top 10 diagnosis in disease spectrum were aortitis media, @PHENOTYPICFEATURE$, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, vestibular dysfunction, @DISEASE$ and Meniere disease.	false
+0a3d7354540fa37f85ca93ca3914d83e19d7ac48	(1) The top 10 diagnosis in disease spectrum were aortitis media, vertigo, noise-induced @DISEASE$, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, @PHENOTYPICFEATURE$, chronic rhinitis and Meniere disease.	false
+bca13cbb81550b25ebdc7a500cf2fbaadb88742b	(1) The top 10 diagnosis in disease spectrum were aortitis media, vertigo, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, @PHENOTYPICFEATURE$, chronic rhinitis and @DISEASE$.	false
+0f9ca8e6764883f50f3141622171636f80dc9064	(1) The top 10 diagnosis in disease spectrum were aortitis media, @PHENOTYPICFEATURE$, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, vestibular dysfunction, chronic rhinitis and @DISEASE$.	false
+15b006d2c26018a0416a9d580eb263f2acb2d3af	(1) The top 10 diagnosis in disease spectrum were aortitis media, vertigo, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, @PHENOTYPICFEATURE$, @DISEASE$ and Meniere disease.	false
+3a91982d2baed016e8e6a220cec390c1a7016d80	(1) The top 10 diagnosis in disease spectrum were @DISEASE$ media, vertigo, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, @PHENOTYPICFEATURE$, chronic rhinitis and Meniere disease.	false
+ac6156cfc0bd9e2971d86cbf1c5ba6ff9978411e	(1) The top 10 diagnosis in disease spectrum were aortitis media, @PHENOTYPICFEATURE$, noise-induced @DISEASE$, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, vestibular dysfunction, chronic rhinitis and Meniere disease.	false
+0ab2192d88c6b0c0a50e313eaca7f68ac4c73817	(1) The top 10 diagnosis in disease spectrum were aortitis @DISEASE$, vertigo, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, @PHENOTYPICFEATURE$, chronic rhinitis and Meniere disease.	false
+484c6ed023fba8811514d0e0424aa7c1d16c1d40	Report on two males who exhibit a syndrome which reminds @DISEASE$ (PWLS) because of craniofacial dysmorphy, acromicria, @PHENOTYPICFEATURE$, obesity and mental deficiency.	has_symptom
+30bf1e396d70668b162d47b73e5c780df36c084b	Report on two males who exhibit a syndrome which reminds @DISEASE$ (PWLS) because of craniofacial dysmorphy, acromicria, hypogenitalism, obesity and @PHENOTYPICFEATURE$.	false
+83d5630dfa7dd72c5381f54498dbbb86fd057157	Report on two males who exhibit a syndrome which reminds Prader-Willi-Labhart syndrome (PWLS) because of craniofacial dysmorphy, acromicria, @DISEASE$, obesity and @PHENOTYPICFEATURE$.	false
+3ed69d7f02f8da00f78c4873cde6cd8f6690b421	Report on two males who exhibit a syndrome which reminds @DISEASE$ (PWLS) because of craniofacial dysmorphy, acromicria, hypogenitalism, @PHENOTYPICFEATURE$ and mental deficiency.	false
+6ad1846f213c8c6467a576d69891b62eb38a4c72	Report on two males who exhibit a syndrome which reminds Prader-Willi-Labhart syndrome (PWLS) because of craniofacial dysmorphy, acromicria, @DISEASE$, @PHENOTYPICFEATURE$ and mental deficiency.	false
+c6e30583e8509b9fa4fdcbb23feede7bfb9576ac	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, @PHENOTYPICFEATURE$/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	has_symptom
+c1e3e0ffdc2190c2b34ce9b3b8940d1f473639cd	Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, @DISEASE$/@PHENOTYPICFEATURE$, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+5e6a89fc9f3236eee76c17f70745fe06d5abb398	Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and @PHENOTYPICFEATURE$, @DISEASE$/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+209b64d04257d833e04100aa87f8fa13dc08b384	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/@PHENOTYPICFEATURE$, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+b6204b70331f37be5c0e3a0264b94adc09216b71	Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, @DISEASE$/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and @PHENOTYPICFEATURE$.	false
+dedb3d4d635701227684610baf2f12cd27f12346	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and @PHENOTYPICFEATURE$.	false
+e3d7fad73d45c94767797a3430c019a5c83e5b36	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and @PHENOTYPICFEATURE$, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+4c5bf361d5325b767d84d61040fa12bd9493c71c	@DISEASE$ (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/@PHENOTYPICFEATURE$, hypotonia, cognitive impairment, and behavioral problems.	has_symptom
+bdf03af316e6190cb0de4ff0dd5f8819b158177f	Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood @PHENOTYPICFEATURE$, short stature, hypogonadism/@DISEASE$, hypotonia, cognitive impairment, and behavioral problems.	false
+fc33713617649c6e44d8109ee397bf5c91f39c6f	@DISEASE$ (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, @PHENOTYPICFEATURE$/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems.	false
+772f0f1327a855c4177d6ab797be4386aed95185	Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, @PHENOTYPICFEATURE$/@DISEASE$, hypotonia, cognitive impairment, and behavioral problems.	false
+d1f8ae4d2b72e98e7a583b3b3bc4fa9da942697e	@DISEASE$ (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, @PHENOTYPICFEATURE$, and behavioral problems.	false
+d7b6884b5f5d00523f0e6bf524e64a181ba545eb	@DISEASE$ (PWS) is a complex genetic imprinting disorder characterized by childhood @PHENOTYPICFEATURE$, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems.	false
+d48b8a868cbf8b9b256cdeb1846ef3f92b4f71d8	Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/@DISEASE$, hypotonia, @PHENOTYPICFEATURE$, and behavioral problems.	false
+c595cbde1eb2551b5da342caeabdd315c8c41d03	@DISEASE$ (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, @PHENOTYPICFEATURE$, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems.	false
+a827714f3b12ebd844cb65bbe9a66d6482c0c99d	Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, @PHENOTYPICFEATURE$, hypogonadism/@DISEASE$, hypotonia, cognitive impairment, and behavioral problems.	false
+5509f1b2dac9ccd2fe2e15de15b1eea46b4ec534	@DISEASE$ (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, failure to thrive, hypogonadism/@PHENOTYPICFEATURE$, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood obesity.	has_symptom
+295af76cc3eb462bfc5b1f0ae672803e656c61e3	Prader-Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, @PHENOTYPICFEATURE$, hypogonadism/@DISEASE$, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood obesity.	false
+bdc4945f66be8b8fcae8fa9da17d8f966564b5bd	Prader-Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, failure to thrive, @PHENOTYPICFEATURE$/@DISEASE$, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood obesity.	false
+e9391318df1bf103adb7ee9dffc6e799d290c8c7	Prader-Willi syndrome (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, failure to thrive, hypogonadism/@DISEASE$, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood @PHENOTYPICFEATURE$.	false
+d11056ccc7a2509b9453503ed8aea367d2be4181	@DISEASE$ (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, failure to thrive, hypogonadism/hypogenitalism, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood @PHENOTYPICFEATURE$.	false
+3912c086891fe46185c1d586278ad5d000cf04d7	@DISEASE$ (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, @PHENOTYPICFEATURE$, hypogonadism/hypogenitalism, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood obesity.	false
+74d7466156fbdeaa6cddfb7c9535eadb4066a909	@DISEASE$ (PWS) is a genomic imprinting disorder due to loss of paternally expressed genes in the 15q11-q13 region and characterized by hypotonia, a poor suck, failure to thrive, @PHENOTYPICFEATURE$/hypogenitalism, growth hormone deficiency, learning, and behavioral problems and hyperphagia leading to early childhood obesity.	false
+8f71da841b35ccc396927d63e6e851e828fe3504	@DISEASE$: ocular complications and @PHENOTYPICFEATURE$.	has_symptom
+6cdcfa7aa588aa74e93a3551ffc9e8ff08d85bfa	@DISEASE$ is a progressive disease with the potential for @PHENOTYPICFEATURE$.	has_symptom
+71f943420b64ef7c1a02bdd58aac3b74a3f48b0b	To compare the clinical prognosis among selected white dot syndromes (WDS) (@DISEASE$ (BRC), multifocal choroiditis, serpiginous choroidopathy (SC), and others) and to identify risk factors of @PHENOTYPICFEATURE$ prognosis.	has_symptom
+fa55f0813687af39ffba50e88195f866c731370a	Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in @DISEASE$: in utero growth restriction, congenital hypotonia, gross motor delay, arrested @PHENOTYPICFEATURE$, mild to moderate mental retardation, joint hyperextensibility, short stature, and precocious puberty.	has_symptom
+957fee3a5c08efa8f790141f1aeab30a0be337fa	Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in @DISEASE$: in utero growth restriction, congenital hypotonia, gross motor delay, arrested hydrocephalus, mild to moderate mental retardation, joint hyperextensibility, @PHENOTYPICFEATURE$, and precocious puberty.	false
+7ccffd70f37fc4c082a9d971eb985e49eb3ac616	Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in mUPD14 syndrome: in utero growth restriction, congenital hypotonia, gross motor delay, arrested @DISEASE$, mild to moderate mental retardation, joint hyperextensibility, @PHENOTYPICFEATURE$, and precocious puberty.	false
+b9e5d27740083eeeec94a44d376bedf436fc07ed	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	has_symptom
+4b1fcb56f3d08ceb4256207f41cd583b801ee9a0	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+af0e17a0499e5852e164c3a46af9b75f6288b15a	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, and pancytopenia.	false
+e029c97f4336fd1b0dd01ac6456ac1dd60a9b926	@DISEASE$ (HHS) includes intrauterine growth retardation, @PHENOTYPICFEATURE$, mental retardation, cerebellar malformation, and pancytopenia.	false
+5467ec03d7cd0235152448c21c464f76fd057c50	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, cerebellar malformation, and pancytopenia.	false
+a3f103c46ab07dc6a3817d3e0b2d89ea53dafd2b	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, cerebellar malformation, and pancytopenia.	false
+97583fe9f5bfa0bafa7a1a171723088d8627b3e9	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+9c267a76d54b07e3d4d8b0dc29cf9718a787bf1c	The proportion of @DISEASE$ patients with manifest @PHENOTYPICFEATURE$, variceal bleeding, or ascites declined over time.	has_symptom
+6c0abc5ad8611305e000fc56c8e4585489551512	We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, @PHENOTYPICFEATURE$, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the @DISEASE$.	has_symptom
+353487e3bb93738fd773f68c9f67809a8403cc03	We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with @PHENOTYPICFEATURE$, ectodermal dysplasia, @DISEASE$, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome.	false
+47f517ae41e84ad772f63d9e8bd8c9d01b056c3d	We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with @PHENOTYPICFEATURE$, @DISEASE$, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome.	false
+dab3aaca8a5c2f42678b10ec33b3f6b86bd7a0a0	We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with @PHENOTYPICFEATURE$, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the @DISEASE$.	false
+025539c2115360d454d38c25d6190d5c9a4f3ed2	We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of @DISEASE$ and her malformed newborn son with @PHENOTYPICFEATURE$, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome.	false
+d336eec94fa8b78c8680b1895710b899fb6c926b	We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with @PHENOTYPICFEATURE$, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic @DISEASE$ as described in the EEC syndrome.	false
+29cf31feef66a671c9e0bb6497817aed07a27ba4	Ectrodactyly, cleft lip with or with out @PHENOTYPICFEATURE$ and urogenital anomalies are also main clinical features of @DISEASE$.	has_symptom
+8d670fde02bb438adb9f911630a92a472eaaf464	@PHENOTYPICFEATURE$, cleft lip with or with out @DISEASE$ and urogenital anomalies are also main clinical features of EEC syndrome.	false
+d23205a4e37b2ecd25f3c720db0e4f2ab7afec07	@PHENOTYPICFEATURE$, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of @DISEASE$.	false
+d7589db2c50e062ab0d3999ac405bbd082190fa9	@PHENOTYPICFEATURE$, @DISEASE$ with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome.	false
+5618472fc7e35928022a6bb0e3ca3d01b92c8e97	We report a case of 4 year 11 months old child with @DISEASE$ having ectodermal dysplasia-cleft lip and @PHENOTYPICFEATURE$ and ectrodactyly with some associated features.	has_symptom
+f48d6cfd9d86aa20ad442cdb2637f0da89d6aaeb	We report a case of 4 year 11 months old child with EEC syndrome having @DISEASE$-cleft lip and cleft palate and @PHENOTYPICFEATURE$ with some associated features.	false
+6779db8e0c64bbdf082c369ad3de18a529ebfce6	We report a case of 4 year 11 months old child with @DISEASE$ having ectodermal dysplasia-cleft lip and cleft palate and @PHENOTYPICFEATURE$ with some associated features.	false
+d2eb2411dd29e00afa1484b7dfae5f7d0162ecb0	We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-@DISEASE$ and cleft palate and @PHENOTYPICFEATURE$ with some associated features.	false
+9fd9e31c28c2ed59008af42023bfa47c99a21d0a	We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and @DISEASE$ and @PHENOTYPICFEATURE$ with some associated features.	false
+5fca8a5b873ed9c6d478e54a229bdd1c57bc05c0	We performed p63 mutation analysis in a sample of 43 individuals and families affected with @DISEASE$, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, @PHENOTYPICFEATURE$, and mammary-gland abnormalities.	has_symptom
+5e839a3c641ac27e1450965028b43f4d5c9e6a0f	We performed p63 mutation analysis in a sample of 43 individuals and families affected with @DISEASE$, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+5436216c39aeae941e6daa61578bc8cafe234c19	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (@DISEASE$), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+311e712bbe0a8b913734f32759ce3d4a6f51e634	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition @DISEASE$ (LMS), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+69ba7bbca56ecb73360c9beb0cdfc3dbea5806d0	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the @DISEASE$-like condition limb-mammary syndrome (LMS), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+38b281e0a38cd15ab893a3ea98d6d1fa7135f891	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and mammary-gland abnormalities.	false
+8e825fad447d494b95da1574166ca7f324fa2658	We reported a case of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+7c5db8eace77f78037d887c020b9d4f78cfa92ca	Ectrodactyly, ectodermal dysplasia and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+67b83478f34bd9b947fc568ff12891166221a48e	@PHENOTYPICFEATURE$, ectodermal dysplasia and cleft palate (@DISEASE$).	false
+dc0a5841bbda8181fe5bd65603ed67e091c9a50a	@PHENOTYPICFEATURE$, @DISEASE$ and cleft palate (EEC syndrome).	false
+42ea70d29559cd50bf295df2f1505153d7c494c0	@PHENOTYPICFEATURE$, ectodermal dysplasia and @DISEASE$ (EEC syndrome).	false
+898ccf6458c144677263b226c75f8f74f460de30	An infrequent case of @DISEASE$ (ectrodactyly, ectodermal dysplasia, harelip--@PHENOTYPICFEATURE$ syndrome) is reported.	has_symptom
+305d7115d55cd7c5aee3bd4bbabb8c91e54fa230	An infrequent case of EEC syndrome (@PHENOTYPICFEATURE$, @DISEASE$, harelip--cleft palate syndrome) is reported.	false
+7edaa07e31f477f170fbcf059f7b5aaec285e454	An infrequent case of EEC syndrome (@PHENOTYPICFEATURE$, ectodermal dysplasia, harelip--@DISEASE$ syndrome) is reported.	false
+d3a4d25d73a874849e7b160baee65c342451895b	An infrequent case of @DISEASE$ (@PHENOTYPICFEATURE$, ectodermal dysplasia, harelip--cleft palate syndrome) is reported.	false
+ebea1335c0f31a38e4cbfabd3be5d31a82a02406	An infrequent case of EEC syndrome (@PHENOTYPICFEATURE$, ectodermal dysplasia, harelip--cleft palate @DISEASE$) is reported.	false
+8733f00e5e4cd68a7316363d049a091118b30c2b	The purpose of this report is to describe a familial observation of @DISEASE$ (ectrodactyly, ectodermal dysplasia, @PHENOTYPICFEATURE$).	has_symptom
+c03f14a9bf7f0e682d6700cf18f7364caa5ca724	The purpose of this report is to describe a familial observation of @DISEASE$ (@PHENOTYPICFEATURE$, ectodermal dysplasia, cleft palate).	false
+c5e54e3f90f198053ba84b6f335c190468e8512e	The purpose of this report is to describe a familial observation of EEC syndrome (@PHENOTYPICFEATURE$, ectodermal dysplasia, @DISEASE$).	false
+cc3264cd990335090b6290693b603302f5f29ff6	The purpose of this report is to describe a familial observation of EEC syndrome (@PHENOTYPICFEATURE$, @DISEASE$, cleft palate).	false
+d6d8e5e468f734fdc8188ccc1e801cc3a3823b3f	The present study tested the hypothesis that the serum @DISEASE$ abnormalities were correlated with alterations of resting electroencephalographic (EEG) rhythms across the continuum of healthy elderly (Hold), mild @PHENOTYPICFEATURE$ (MCI), and AD subjects.	has_symptom
+762d4fd91f83fa79dd537c6791f6d5e12b788552	We found that markers of lipid peroxidation are elevated in blood in Alzheimer's disease and in mild @PHENOTYPICFEATURE$, @DISEASE$ metabolism is dysregulated and total antioxidant capacity is decreased.	has_symptom
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	has_symptom
+bef6b1717764adbba855262aef86807f9782a012	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+75d30e27bd3cf0a1d2a2f710b1846b256f4e9726	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+e27c37573537f349c3edbb99c7c22ca46c5da418	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+84f1b431ac8bda8fdd356d605e2626eb42866e9e	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+2fbd83d988cad6cef1e7ee62645d7b9999174bcc	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+d5e1e1e326a029a4647ede8a28ea3fcfaa6da7d4	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, @DISEASE$).	false
+c754a4cd492062c89aee53ada66b31e1b864d455	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, @DISEASE$).	false
+fac9d5e1a58cd67baa575cd097137cb4d45d4da2	@DISEASE$ and @PHENOTYPICFEATURE$ in Vietnam.	has_symptom
+25e1663fa698fadf19665a67bbcafb4470fcd24e	@DISEASE$ and @PHENOTYPICFEATURE$: anxiety burden for women.	has_symptom
+98f3007f1dc07fc6f68b66e6751879fa1433d4c3	The association between @PHENOTYPICFEATURE$ and congenital @DISEASE$ was confirmed.	has_symptom
+b394d752717d2033da8aca39de68d8277299ef6d	@DISEASE$ and its associated @PHENOTYPICFEATURE$ have being receiving global concern.	has_symptom
+3aab844e2fcd39b761f4eee723d6a1f936f09601	Patients with congenital @DISEASE$ syndrome were divided into those with @PHENOTYPICFEATURE$ at birth, postnatal microcephaly, and without microcephaly.	has_symptom
+28e72fca9030544373c196b4aa4aecaddb93fc67	Patients with congenital @DISEASE$ syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without @PHENOTYPICFEATURE$.	has_symptom
+51078662d7a91f308e280553bad2c16ec9015081	@DISEASE$ and @PHENOTYPICFEATURE$: Evidence regarding geospatial associations.	has_symptom
+adb22c74f365940ce6c4e09e57cc4e6d6a43b343	Infant outcomes among women with @DISEASE$ during pregnancy: observation on @PHENOTYPICFEATURE$.	has_symptom
+148b8aa991a250fdbeb3eb1060ee76abdb24621b	Congenital @DISEASE$: More than just @PHENOTYPICFEATURE$.	has_symptom
+7bd113128a4e814a143dcee28e86f6253f2cb5b7	Ocular findings in patients with @PHENOTYPICFEATURE$ can suggest presumed congenital @DISEASE$.	has_symptom
+b2341fbf64c0daaf14028348d9b7fe0a15a6ab2c	Surveillance of @DISEASE$ and @PHENOTYPICFEATURE$ in Brazil.	has_symptom
+881e979635f38d74c8fe329b6641c1cd4f983057	In comparison with those in the control group, the @DISEASE$ subjects reported a significantly higher prevalence of dry mouth, thirst, taste and @PHENOTYPICFEATURE$, headaches, nonspecific health problems, pain complaints, and severe menopausal symptoms, but no significant differences in other oral or dental features or in the prevalence of candidiasis infection.	has_symptom
+8ea1ca6f5f97eaf2868c86ab19da3084f39488ec	In the @DISEASE$ patients, a depressed mood and anxiety correlated positively with @PHENOTYPICFEATURE$.	has_symptom
+0daabcac984857c8874cfdf3df1061c3bb74f6c8	Findings from this cross-sectional study, although unable to establish a causal relationship, demonstrate that patients with BMS report a greater degree of sleep problems as compared with controls, and suggest that @PHENOTYPICFEATURE$ may be a risk factor for @DISEASE$ and a possible target for treatment.	has_symptom
+500c9d94a81d733f4dff9c1fcb6f9a2d80c7ca0b	Findings from this cross-sectional study, although unable to establish a causal relationship, demonstrate that patients with @DISEASE$ report a greater degree of sleep problems as compared with controls, and suggest that @PHENOTYPICFEATURE$ may be a risk factor for BMS and a possible target for treatment.	has_symptom
+e3a989d5ad39c3fafc7d05525b16300a068f9faf	The objective of this study was to evaluate whether @PHENOTYPICFEATURE$ is a risk factor for burning mouth syndrome (@DISEASE$).	has_symptom
+47f369320c10f2b26df371831ac99921daf3a7d0	We obtained plasma, cerebrospinal fluid (CSF), and brain tissue specimens from lobectomy or hemispherectomy samples from 39 patients (medulloblastoma, 16; @DISEASE$, 8; epilepsy, 6; @PHENOTYPICFEATURE$, 9).	has_symptom
+460dd3d00613d4738bcb97bce6881e58507dcac4	Peritoneal metastasis of third ventricular @DISEASE$ after VP shunt implantation for unexplained @PHENOTYPICFEATURE$.	has_symptom
+a067054970c3292a3bb242a7fc9c46d05c7675ec	This report presents a 9-year-old girl of primary third ventricular @DISEASE$ with peritoneal metastasis after ventriculoperitoneal (VP) shunt catheter implantation for @PHENOTYPICFEATURE$ before the identification of the CNS tumor.	has_symptom
+4540192c29649a5254d35fa78a6acc898e279284	Infantile midline facial hemangioma with @PHENOTYPICFEATURE$ and sinus pericranii: another face of the @DISEASE$.	has_symptom
+3994e9ddcc9622b6bbdaa2768001fee733d9a0ce	Three patients had extensive capillary hemangiomas, of which one had @DISEASE$ and one had additional cerebrovascular anomalies and @PHENOTYPICFEATURE$.	has_symptom
+1d7d2f85c66c3070e4d040caacecdc9a48393204	As part of the @DISEASE$, she had a midline facial hemangioma, @PHENOTYPICFEATURE$, hypoplastic internal carotid artery, and an abnormal tortuous dysplastic basilar artery.	has_symptom
+9284b0ef076d411f3b8e03453db0ea606d3b92c5	However, careful characterization of the clinical phenotype and the correlation with the underlying molecular basis justifies the differentiation into at least four distinct disease entities: (i) the hyperprostaglandin E syndrome or antenatal variant of Bartter syndrome (@DISEASE$/aBS), which is caused by mutations in either the Na-K-2Cl cotransporter or the potassium channel of the medullary thick ascending limb of Henle's loop; (ii) the HPS/aBS with @PHENOTYPICFEATURE$ which results from inactivating mutations in the Barttin beta-subunit of the renal chloride channels; (iii) the classic Bartter syndrome caused by mutations in the chloride channel of the distal nephron; and (iv) Gitelman's variant of Bartter syndrome which is caused by mutations of the Na-Cl cotransporter of the distal convoluted tubule.	has_symptom
+b158b19cf0dbdc4a4c7719bfceedc730563322c0	However, careful characterization of the clinical phenotype and the correlation with the underlying molecular basis justifies the differentiation into at least four distinct disease entities: (i) the hyperprostaglandin E syndrome or antenatal variant of Bartter syndrome (HPS/aBS), which is caused by mutations in either the Na-K-2Cl cotransporter or the potassium channel of the medullary thick ascending limb of Henle's loop; (ii) the @DISEASE$/aBS with @PHENOTYPICFEATURE$ which results from inactivating mutations in the Barttin beta-subunit of the renal chloride channels; (iii) the classic Bartter syndrome caused by mutations in the chloride channel of the distal nephron; and (iv) Gitelman's variant of Bartter syndrome which is caused by mutations of the Na-Cl cotransporter of the distal convoluted tubule.	has_symptom
+0ccc830b7cf1d2e0d516b7962749bd36d6d9ce94	This paper aims to comprehensively document a rare case of @PHENOTYPICFEATURE$ accompanied by @DISEASE$ which could be one of the causes of cochlear dysfunction.	has_symptom
+f25a93840308b43e41b35fb2e161fd4ec22dcb73	Historically, four phenotypical variants have been described: (1) the (classic) Bartter syndrome (cBS), (2) the hypomagnesaemic hypocalciuric Gitelman syndrome (GS), (3) the hypercalciuric hyperprostaglandin-E-syndrome (@DISEASE$) or antenatal Bartter syndrome (aBS) and (4) the hyperprostaglandin-E-syndrome with @PHENOTYPICFEATURE$ (HPS + SND).	has_symptom
+453a55d32170e3a0f593e369281c6bedb689a131	In this series, the occurrence of some clinical features linked to the @DISEASE$ is consistent with the literature, such as systematic valvulopathies, @PHENOTYPICFEATURE$, and umbilical hernia; however, storage signs, facial dysmorphic features, and hepatomegaly were more frequent in our series.	has_symptom
+ad96fab0c5763ffdcab16ccdab4f5bf75bff44c6	In this series, the occurrence of some clinical features linked to the Scheie syndrome is consistent with the literature, such as systematic valvulopathies, @DISEASE$, and umbilical hernia; however, storage signs, @PHENOTYPICFEATURE$ features, and hepatomegaly were more frequent in our series.	false
+672707912d2ad38fc35e60adf3bf27d476f9d956	In this series, the occurrence of some clinical features linked to the @DISEASE$ is consistent with the literature, such as systematic valvulopathies, corneal opacity, and umbilical hernia; however, storage signs, @PHENOTYPICFEATURE$ features, and hepatomegaly were more frequent in our series.	false
+40a04718a72eca807e789b558c13a58e0895c68e	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, @PHENOTYPICFEATURE$ and intracranial calcifications in addition to the classical scalp and limb defects.	has_symptom
+69ee322dcccd56c92208338f7d9fe60032205b7a	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including @PHENOTYPICFEATURE$, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.	false
+827b7f4794f5325e02cbd0bbbd99789d936b7957	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, @DISEASE$ and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+f821f0c4fe569fa220cee6638b19182bd3871a0d	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and intracranial calcifications in addition to the classical scalp and limb defects.	false
+cda463f34dfe0f49b306e0284892d0328496afde	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely @DISEASE$ central nervous system anomalies including microcephaly, epilepsy, mental retardation and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+418d5d6e6ad132e2daf54522cc654168e27b7f62	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely @DISEASE$ central nervous system anomalies including @PHENOTYPICFEATURE$, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.	false
+8e14f457e24d596010427507d3f7433e9c2d7a43	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+7c7c859d8837e20f39a200b8ff8ed96b004a2968	DOCK6 mutations were strongly associated with structural brain abnormalities, ocular anomalies, and @PHENOTYPICFEATURE$, thus suggesting that DOCK6-linked disease represents a variant of @DISEASE$ with a particularly poor prognosis.	has_symptom
+00f1232ff27bfaeeb5b407a2db14c74b7cce8983	A case of @DISEASE$ associated with acrania, microcephaly, hemiplegia, epilepsy, and @PHENOTYPICFEATURE$.	has_symptom
+2bb7af8a385bf4de44855f84753029631cdd5e54	A case of Adams-Oliver syndrome associated with acrania, @PHENOTYPICFEATURE$, hemiplegia, epilepsy, and @DISEASE$.	false
+5c28a91e8affc56c54e344fda1dacb788a9c9572	A case of @DISEASE$ associated with acrania, @PHENOTYPICFEATURE$, hemiplegia, epilepsy, and mental retardation.	false
+8dd76063125e9031985310cd9addad6da9918f1d	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	has_symptom
+57a656bc15e9b5796ea555d0f2a4ebbf14a124bb	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, @DISEASE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+df00cd96f385a56d5feb62bc248bde82b60c47c4	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, @DISEASE$, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	false
+fd5821f7568e43f8b1426fd9f3086355a01d85ed	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+7843edda02777fea7ff72a700cc61c6242bf21ec	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+55c6808fe74f7164709d4b92121b45cc139d9857	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+e336ae7556a8ba78ef6380e8f2957c9e59807f75	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, mental retardation, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	false
+32aba66edde852a3e87d6ddf48f980ca8435496b	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+063a79c4d5f13cf644769446c7aefbe371d12729	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	false
+a54a3845070c3c5f73c350d9cfbd9400f546c70f	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, @PHENOTYPICFEATURE$, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+e277f9500ccc14360121871f681920ac7f645536	Patients reported were those affected by impacted teeth, including individuals who were normal healthy patients, with and without resorption of the adjacent incisor roots, as well as individuals suffering from @DISEASE$ and @PHENOTYPICFEATURE$, and individuals with autogenous and synthetic bone grafts.	has_symptom
+9ddb6c16ccfccfe431fd6cd867d0481cb8f23698	The first case was a 12-year-old boy who presented with gradual @PHENOTYPICFEATURE$ of his right eye and was found to be associated with @DISEASE$. The second case was a 10-year-old boy who presented with gradual proptosis of his left eye with normal visual acuity.	has_symptom
+1d4372e20c612f4ce03f9c2c92ddb9959a0e62bd	@DISEASE$ is characterized by a facial port-wine nevus, leptomeningeal angiomatosis, and @PHENOTYPICFEATURE$; it is commonly complicated by epilepsy and hemiparesis.	has_symptom
+9959643a167f874bb8bf37d7302bf47fa74f257c	@PHENOTYPICFEATURE$ in @DISEASE$ is common.	has_symptom
+2bdbb1efb9eb87d593b9b3f304a51050b853b369	Sturge-Weber syndrome (@DISEASE$) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, intellectual impairment, hemiplegia and @PHENOTYPICFEATURE$.	has_symptom
+9f382e3d3f57e0cf8a6c031bcf2c375d1f761a26	@DISEASE$ (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, intellectual impairment, hemiplegia and @PHENOTYPICFEATURE$.	has_symptom
+fb4a0f5a7c81ac19077a19405e08deb3facdcef2	Sturge-Weber syndrome (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, @PHENOTYPICFEATURE$, hemiplegia and @DISEASE$.	false
+62f7d9657dd712c49177eb71887636a4209be29f	@DISEASE$ (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, @PHENOTYPICFEATURE$, hemiplegia and glaucoma.	false
+17af37ccdd8ba6c79021901435b790bc325ed8ea	Sturge-Weber syndrome (@DISEASE$) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, @PHENOTYPICFEATURE$, hemiplegia and glaucoma.	false
+b66c8b06960b934752dec39922550f18172f5974	To report surgical and visual outcome of trabeculectomy in bilateral @PHENOTYPICFEATURE$ in @DISEASE$ and the challenges encountered in its management.	has_symptom
+7902c5ed0b100fcb13ecfb0f2d3cd1ea1d2bc0e0	@DISEASE$ has been known to be frequently associated with facial cutaneous angioma and ipsilateral @PHENOTYPICFEATURE$.	has_symptom
+a3b6ea895af529809880d95409de0aee2f25efec	@DISEASE$ (choroidal hemangioma and @PHENOTYPICFEATURE$).	has_symptom
+b2a14c0b2d1af33ddcf7ea0e977452ed6a2050e9	@DISEASE$ (SWS) is frequently associated with early onset @PHENOTYPICFEATURE$ in the eye on the same side as the facial angioma.	has_symptom
+9fa11eabacd43a0b7f360b42fb213808e7738466	Sturge-Weber syndrome (@DISEASE$) is frequently associated with early onset @PHENOTYPICFEATURE$ in the eye on the same side as the facial angioma.	has_symptom
+0776cc87fe52771041e70203e48ccfa1c86cdf88	@PHENOTYPICFEATURE$ and expulsive hemorrhage mechanisms in the @DISEASE$.	has_symptom
+01728ffbedc2c28aacf2b119354d6277df2927c1	The @DISEASE$ (SWS) is a phacomatosis which include facial nevus flammeus, @PHENOTYPICFEATURE$, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis.	has_symptom
+403030411037a5b62cb2fa05eeefa598e9073ccc	The Sturge-Weber Syndrome (@DISEASE$) is a phacomatosis which include facial nevus flammeus, @PHENOTYPICFEATURE$, diffuse choroidal hemangioma, and leptomeningeal hemangiomatosis.	has_symptom
+7c7f885d3d3d15946b869afb920121fb7b5e0c3e	@PHENOTYPICFEATURE$ was more common in patients with @DISEASE$ compared with those without (66.7% vs. 18%, P=0.01).	has_symptom
+88914dbb23521c398618756b0bcbfeee5b11295f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	has_symptom
+b082597df1186cbb73c989300c4a88ae385aea0d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (@DISEASE$, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+50dab4777eda660c2973fc6c66f89c57144a80d5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+fd85ad08a307461ac42875e4b8cad7a63fa60319	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eec99ff4088dcb824b2b4c3cc707272291ad8d2f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (@DISEASE$, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+217be1275c984620d9d247d51b7f4ba7b4e997de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset @DISEASE$ 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+23fe04a7f87af4fc9dcc2e91fc81a676f0fb2ed4	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, @DISEASE$, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0323cd6355fbb6ae31c37a85942e9f19699ef52c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+f0bb350572273c6ac5c988e3f30cfde093154e79	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal @DISEASE$, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+2e62987e29e43aa33ac8929001d43020ae232192	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (@DISEASE$ susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0cb020dc64913eba5b5770ddd6b9bc89e779580d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+d97c06982d8b1bf04e85c359b9989dbf238fd512	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+6959a9a765c141f863fddb73ea2e1a64a5a942b7	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, @DISEASE$ of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+6fb176b0f4309b43cbd0f01740715b8f30a0968d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB @DISEASE$ (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+9e4fa23e326d70b7eba1bd672c2087f1e395a75e	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dd0865bec5fa6427371c614585df228799ff1334	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @DISEASE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+5cce6c802e1551cb151e4dd753dc6e944f3c2e50	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+30385319ab3335aabac40269381d3aefbc60994d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+71963d587fdc51e683fa77dea12018232c1a0b33	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+bcd6c1a6e270fbb28b4abc2ad10ba9d31deac5de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+390ab6e03631a93dcb92534a8e617e3bfdba905c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+36f8ae66df1bee6d8eeffcc92b1287eb7be5bc46	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+e55a0543cbef8d3e817555b3ebe3cd4ab276f422	@DISEASE$ (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, polydactyly, cardiac and @PHENOTYPICFEATURE$.	has_symptom
+611f6e223a490ad3f1fb5ce10883285213610430	Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, @PHENOTYPICFEATURE$, cardiac and @DISEASE$.	false
+81522e8d9344d332b7f7ce6fc0dabf0c4f5625a1	@DISEASE$ (EVC) is a relatively rare, usually non-lethal, autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, polydactyly, cardiac and renal anomalies.	false
+dc366c0b00e0985ab14601250c49f27b4b44650b	Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, polydactyly, cardiac and @DISEASE$.	false
+ae665d6b20bcca539ec54d746c15ead3e16d2ccf	@DISEASE$ (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, polydactyly, cardiac and renal anomalies.	false
+a928f5c451b6844a87402a42d82a2bbec707291c	@DISEASE$ (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, @PHENOTYPICFEATURE$, cardiac and renal anomalies.	false
+088a067d54f29d10a11417cd079679343eeec200	Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, polydactyly, cardiac and @DISEASE$.	false
+c0fb0205cb5564440debc543e071001846a91ca1	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, growth retardation and deafness.	has_symptom
+43acf77e2fe301c6313ce9a0e217b87244fa801d	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, growth retardation and deafness.	has_symptom
+f0c1a13ed7ae58d0ae32c763ba0b721680d470f0	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+515ab1668be5fdcd6c741dfa3030eb771bbfc58a	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, @PHENOTYPICFEATURE$ and deafness.	false
+a1aa9ea973dd9482f89b8ca8bc7e11f6150eedcb	Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @DISEASE$, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+e38ec5ef5bcd0181f6cdc3c9dc9d253275f51de3	Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @DISEASE$, pulmonic stenosis, abnormal genitalia, @PHENOTYPICFEATURE$ and deafness.	false
+9967de17376b906e5450950d82372f3885fb2b92	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, @PHENOTYPICFEATURE$ and deafness.	false
+633578cf97e2aee24e1812a496b24c6555f6516e	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+d777ad751bf6a9e51009e7bb08414118b370e0a3	@DISEASE$ (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, @PHENOTYPICFEATURE$, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness.	has_symptom
+01da1dda28daf3d1a89e5519027d1a040cc092b8	LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, @DISEASE$, pulmonary valve stenosis, abnormal genitalia, retardation of growth and @PHENOTYPICFEATURE$.	false
+4df0afe72909943fb5861e750e8ea16238fba117	@DISEASE$ (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and @PHENOTYPICFEATURE$.	false
+cae777ce9d713ed540d5e3b43341048d77d84f99	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, @PHENOTYPICFEATURE$, growth retardation, and deafness.	has_symptom
+c3f29d03e8f3869986727b9ab258ba93955384e9	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, @PHENOTYPICFEATURE$, and deafness.	false
+4594ca41c796b531193c6ee117355f7dcfacf983	LEOPARD syndrome is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, @DISEASE$, growth retardation, and @PHENOTYPICFEATURE$.	false
+031d2555a76aa1fc0fb0b28cb2f099a9eaf8b1cb	LEOPARD syndrome is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, @DISEASE$, @PHENOTYPICFEATURE$, and deafness.	false
+480ca0929e3695becb209f41acfb455ae8b2d239	LEOPARD syndrome is a rare congenital disease that can manifest with @PHENOTYPICFEATURE$, multiple lentigines, @DISEASE$, growth retardation, and deafness.	false
+35d2be0f345c877101a9ff5bf1cc5aaf099470db	@DISEASE$ is a rare congenital disease that can manifest with @PHENOTYPICFEATURE$, multiple lentigines, ocular hypertelorism, growth retardation, and deafness.	false
+3b1e7151f879c6a33907cac3763c03a45c6ae83d	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, growth retardation, and @PHENOTYPICFEATURE$.	false
+658310807a05d315ed9430d0686c8aa600c5b217	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as short stature, @PHENOTYPICFEATURE$ and heart defects.	has_symptom
+59baf3cf784b6c30ab012b6679bfc3b30245772d	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+c153f101d465836bfa9f8afe93b498ddeb4238cf	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, hypertelorism and heart defects.	false
+fa8b1939ffafe823d7e1aea069282ecff3a604ec	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+ee256dbf1c28ac09e947beb20b879f20e1ced4aa	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, hypertelorism and heart defects.	false
+f411603c91e6040be4e9cb86f7e320ad643baf92	Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+afa5f868b681d0d5a57a87144d3262655d72fec9	Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, @DISEASE$ and heart defects.	false
+78fcc20436d32da0480d0386f4ee913d6ccb6476	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	has_symptom
+0317010c9e6269e083bad381fdd4f4c841f351b7	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	has_symptom
+f8c882807a716482023b5c785e4624bc60df55df	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+f1c659e15a55f872e63713ab2a50f29ca50d0d1a	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @DISEASE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	false
+7b747f6ebf54f0f72dc3d097c512446633cfca77	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @DISEASE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+aeb84d55b9fd65786763861459e40dd7963b00cd	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	false
+04a66b733ec0ed5399b35f0a4f01100e4ff21099	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	false
+2cb703bba53c3f75cd34d3e3ccd6375fcac55a7e	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+cbb4fd3a8301010b1e9f35c09a8819f6302de242	@DISEASE$ (lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition.	has_symptom
+3ab08650c6b2911508c72215fcb0ab22569459d7	LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, @DISEASE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and @PHENOTYPICFEATURE$) is an autosomal dominant condition.	false
+2f5e23d0bc73ee060153114e2ad90adfbc718581	@DISEASE$ (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and @PHENOTYPICFEATURE$) is an autosomal dominant condition.	false
+4d497725cc6d88ebf035700da206d0eef812c8d9	@DISEASE$, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or @PHENOTYPICFEATURE$.	has_symptom
+0c71dc15f0832b297857d5b422381a04b09dc487	@DISEASE$ is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, @PHENOTYPICFEATURE$, and retardation of growth.	has_symptom
+1438ae26ee8fa57abc0309d12c76c75f7c22993d	LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital @PHENOTYPICFEATURE$, @DISEASE$, and retardation of growth.	false
+a0ce5131829d7e0e9407ed4cd39a980c81c72103	@DISEASE$ is an autosomal dominant disorder with multiple lentigines, congenital @PHENOTYPICFEATURE$, ocular hypertelorism, and retardation of growth.	false
+bae8510f0fa18b627caeba690ca0e1a9a9d48131	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.	has_symptom
+460d11412d6102f9dee2fa44ab919297ae901399	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.	has_symptom
+a3a0f95f13eb6b0d117b776f00c5d688b5974ac8	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	false
+d1a75ced848efc367397eb9c699984cdea9506c0	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+ab8103ccd80ebc5eb32bbae681865feea29186b9	Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @DISEASE$, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	false
+cc854d2cb02d366e1ea642213e4dd1bd4e5da996	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+599a966536d7b7023bd4a8924d564f8f2eec3838	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	false
+5587c2fb5eee8d0fe4ec991e4c364f187fa1b29d	Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @DISEASE$, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+8589cf4aba3772f9567f7bbc6fea7810e41921c1	A 5-year-old girl with a family history of @DISEASE$ had multiple lentigines on the face and trunk, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+b6bfae4e318e920e503959a903bcaa16875a21a2	A 5-year-old girl with a family history of @DISEASE$ had multiple lentigines on the face and trunk, hypertelorism, and @PHENOTYPICFEATURE$.	false
+41295e26b1d02f9feef4f65b2d1248847ce0332a	A 5-year-old girl with a family history of LEOPARD syndrome had multiple lentigines on the face and trunk, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+68249a8e1a281f8b879a45d07b3b4f727c50abb2	We report on an Arab boy with @DISEASE$ and @PHENOTYPICFEATURE$ identified at 15 years while investigating a seizure disorder.	has_symptom
+a4eaa2771b65621063d7989627bc8eaae5bb896f	We report on an Arab boy with @DISEASE$ and cerebral calcifications identified at 15 years while investigating a @PHENOTYPICFEATURE$ disorder.	false
+d3cb989f5db674eda53084c2bc013573d4b4a2ca	We report on an Arab boy with Keutel syndrome and @DISEASE$ identified at 15 years while investigating a @PHENOTYPICFEATURE$ disorder.	false
+b54b8e2910fa1076f066cc44244900d39c6a992e	@DISEASE$ is a demyelinating disease of the brain and spinal cord, characterized by @PHENOTYPICFEATURE$, cognitive dysfunction, memory loss, and personality disorders.	has_symptom
+9736474d5809c02468e145d0c67f0abf471220b7	@DISEASE$ is a demyelinating disease of the brain and spinal cord, characterized by muscle weakness, cognitive dysfunction, @PHENOTYPICFEATURE$, and personality disorders.	false
+b12969d173581e25c99b7b97b7315d11b9a4e56e	Multiple sclerosis is a demyelinating disease of the brain and spinal cord, characterized by @DISEASE$, cognitive dysfunction, @PHENOTYPICFEATURE$, and personality disorders.	false
+8168766aa95edf21a9c3c034d01efbe6fdc8b650	Multiple sclerosis is a demyelinating disease of the brain and spinal cord, characterized by muscle weakness, cognitive dysfunction, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b54b8e2910fa1076f066cc44244900d39c6a992e	@DISEASE$ is a demyelinating disease of the brain and spinal cord, characterized by @PHENOTYPICFEATURE$, cognitive dysfunction, memory loss, and personality disorders.	has_symptom
+9736474d5809c02468e145d0c67f0abf471220b7	@DISEASE$ is a demyelinating disease of the brain and spinal cord, characterized by muscle weakness, cognitive dysfunction, @PHENOTYPICFEATURE$, and personality disorders.	false
+b12969d173581e25c99b7b97b7315d11b9a4e56e	Multiple sclerosis is a demyelinating disease of the brain and spinal cord, characterized by @DISEASE$, cognitive dysfunction, @PHENOTYPICFEATURE$, and personality disorders.	false
+8168766aa95edf21a9c3c034d01efbe6fdc8b650	Multiple sclerosis is a demyelinating disease of the brain and spinal cord, characterized by muscle weakness, cognitive dysfunction, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4ec1613425e22f77916c1f4245fce51bff85c71e	In addition, vitamin D is connected to a variety of other diseases that include different cancer types, @PHENOTYPICFEATURE$, hypertension, autoimmune diseases, @DISEASE$, type 1 diabetes, schizophrenia and depression.	has_symptom
+3d87429b817760532c1829b48b8981b0429fa12b	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; @DISEASE$; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; @PHENOTYPICFEATURE$; cognitive impairment; Alzheimer's disease; clinical depression; and premature death.	has_symptom
+d769132ddf41a6eb3cb9e8f969b13b125f089cc0	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; @DISEASE$; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+d55d73645bdb682a245ea53bc70c6f7292ee43bd	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; @DISEASE$; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+f3c1f200289c83c6e17ba03b638b555c0c765511	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; @DISEASE$; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+950c1ee68c38cb343d738b6a210608c0675f91e1	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., @DISEASE$, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+34cde0632cc98a1858a82412590f2f735b976dfa	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; @DISEASE$; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+3dbe384ecfccc63114a6eac3bc94c933f4ebf42a	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; @DISEASE$; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+532cdc0a72de2e77f481b84fb4eb30ef027c635c	Adequate vitamin D status has been linked to decreased risks of developing specific @DISEASE$, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+46d85e171baa92148e7fbfa117f3186bb97d1361	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; @DISEASE$; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+e99209d37a21d077f2d5861b7d43b946641a3f7f	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; @DISEASE$; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+a69c39958773b28fadd7b9a28696aadce3619dd4	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, @DISEASE$, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+54193505b1c1efe7f52a2a85ce8ced7244f7fc8c	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); @DISEASE$; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+6c1cb459ad5d14f6eda23d3b0df1065e07bc40f4	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including @DISEASE$ of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+5306e9484b23b4a168c7c1c12c46584a9fd1c783	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; @DISEASE$; clinical depression; and premature death.	false
+ecca7d3845e488f332b39408a6b77e8463498d73	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, @DISEASE$); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+85acf1056a082563b13efb9dd2a18fc5c5de2f0f	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; @DISEASE$; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+c15e241f56bfda5f72dfc333b892dd5a2e12d29b	@DISEASE$ is a chronic, autoimmune and neurodegenerative disease affecting multiple functional systems and resulting in motor impairments associated with @PHENOTYPICFEATURE$ and lack of movement coordination.	has_symptom
+a7edf9c911b500f0b47bd834d2bdc64538d72400	Vitamin D deficiency has been associated with @PHENOTYPICFEATURE$, depression, schizophrenia, Alzheimer's disease, @DISEASE$ and a lower motor neuron-induced muscle atrophy.	has_symptom
+3f6d2d7fecb5118075eaeb8842c337fa3a134620	@DISEASE$ (MS) is an autoimmune inflammatory disease that causes @PHENOTYPICFEATURE$ or spasticity, balance incoordination, sensory deficit, and fatigue.	has_symptom
+317f9f8564ba28a7799e9cad6b7cc584ab6d6397	Multiple sclerosis (MS) is an autoimmune @DISEASE$ that causes muscle weakness or @PHENOTYPICFEATURE$, balance incoordination, sensory deficit, and fatigue.	false
+2c94c3493ce96d1b76fba06934694a9850f4a2d0	Multiple sclerosis (MS) is an autoimmune inflammatory disease that causes @DISEASE$ or @PHENOTYPICFEATURE$, balance incoordination, sensory deficit, and fatigue.	false
+1a91b03eeb1ef5eb95761baf472fa04196f83b99	@DISEASE$ (MS) is an autoimmune inflammatory disease that causes muscle weakness or @PHENOTYPICFEATURE$, balance incoordination, sensory deficit, and fatigue.	false
+909b3dfdf8c24d9e691bf9af4bd7ea943caf8644	In this paper we report on the renal changes observed in patients with diseases of the liver, such as hepatic glomerulosclerosis, secondary IgA nephropathy, glomerulonephritis with @PHENOTYPICFEATURE$, systemic disease with hepatitis (@DISEASE$ and polyarteritis nodosa) with renal affection, renal changes after liver transplantation and the hepatorenal syndrome.	has_symptom
+e53621ba8063aa0de3d3e26fdd821f018b9596f9	The recurrent pyogenic infections of patients with @DISEASE$ are controlled by intravenous gamma globulin administration, but patients may suffer from early-onset @PHENOTYPICFEATURE$ and warts.	has_symptom
+95540de0b0ebffa90ccdbfe64d8d6a6ad1cbe165	@DISEASE$ in Malaysia: a common cause of short-term @PHENOTYPICFEATURE$.	has_symptom
+f9cb957d29562908083dd2fdb0ec4e9a3d58f424	We report a 46-year-old male who presented with @PHENOTYPICFEATURE$ and flaccid weakness of all four limbs due to @DISEASE$ associated hypokalemia.	has_symptom
+3aff62d5da7aa3d1930e9407eb63ca53fb80a6a9	We report a 46-year-old male who presented with @DISEASE$ and flaccid weakness of all four limbs due to Leptospirosis associated @PHENOTYPICFEATURE$.	false
+3b45aab15e9cfdd19db2434801305de40b66a68c	We report a 46-year-old male who presented with fever and flaccid weakness of all four limbs due to @DISEASE$ associated @PHENOTYPICFEATURE$.	false
+5e4bb60ac46cb4c0ea93bb0efe2a2affd64ee28d	We present a rare severe @DISEASE$ in a patient who presented with @PHENOTYPICFEATURE$, jaundice, coagulopathy and intrauterine fetal demise.	has_symptom
+62d49382a73706ebc9cb6e06383870c53608e63b	@DISEASE$ is a widely-distributed infectious disease, that usually presents with @PHENOTYPICFEATURE$, headache and myalgia.	has_symptom
+0f908232156d724f5ff2a4c477929fa9154135a9	Cases were patients with liver cirrhosis who presented with @PHENOTYPICFEATURE$ and/or jaundice and were screened and found positive for @DISEASE$.	has_symptom
+1424bc2dd1a92832b0977c86ba749a170a03515b	In @DISEASE$ there are @PHENOTYPICFEATURE$, hepatic fibrosis, elevated cholesterol and alkaline phosphatase levels, defective T lymphocytes and hyperactive B lymphocytes.	has_symptom
+07a153f413b5c2cd1735db4d11193da4c75d0566	@DISEASE$ is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, @PHENOTYPICFEATURE$, early satiety and nausea.	has_symptom
+be2958d8fc7e83145b263d02b5b647f548598da0	Gastrointestinal symptoms, including diarrhoea and @PHENOTYPICFEATURE$, are one of the earliest and most frequently reported signs of @DISEASE$, a rare X-linked lipid storage disorder.	has_symptom
+939ee1563f62f6a3a4b11a3ff8fbb8e62e2e5fe0	A case of glycogen storage disease type I associated with an incomplete type of @DISEASE$; the protective role of lysosomal alpha 1,4-glucosidase and insulin deficiency against @PHENOTYPICFEATURE$.	has_symptom
+6f5b02f96220143bf81441111d7a7a74d69ca579	Major manifestations include hepatomegaly, glucose intolerance, post-prandial @PHENOTYPICFEATURE$ and renal disease that usually presents as proximal tubular acidosis associated with proximal tubule dysfunction (renal @DISEASE$).	has_symptom
+3679d6efac96b54198a2b6f43c71e1b82711f6c4	@DISEASE$ (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by adult-onset, pure @PHENOTYPICFEATURE$.	has_symptom
+f8b29d3f589e538ff01512a6ca87fa1c2f1aadbc	@DISEASE$ (SCA31), is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by late-onset pure @PHENOTYPICFEATURE$.	has_symptom
+b87b8cb699fbdff9ba8d6df23e5570af4e4dff4e	@DISEASE$ (SCA31) is known as a late-onset, relatively pure cerebellar form of @PHENOTYPICFEATURE$, but a longitudinal prospective study on the natural history of SCA31 has not been done yet.	has_symptom
+f515bb1fb3c916117a8447c9cc836609e51bb595	@DISEASE$ (SCA31) is an autosomal dominant form of pure @PHENOTYPICFEATURE$ that is caused by a disease-specific insertion containing penta-nucleotide repeats (TGGAA)n .	has_symptom
+dbb251e9b329aa9ac104fdf59a18e3daef39731a	@DISEASE$ (SCA31) is a relatively common degenerative @PHENOTYPICFEATURE$ in Japan.	has_symptom
+9235bae31fd8da854cf457d8e7e5649bdef8be8f	@DISEASE$ (SCA 31) is a slowly progressive neurodegenerative disorder characterized by pure @PHENOTYPICFEATURE$.	has_symptom
+f5d3e7f74948647e2e604d812132656024ab4fd1	Here we have addressed this question by studying @DISEASE$, a representative lysosomal storage disease, and Dravet syndrome, a form of severe @PHENOTYPICFEATURE$ epilepsy in infancy, using human iN cells with feature of immature postmitotic glutamatergic neuronal cells.	has_symptom
+a7756dbfe4606d6dde8ece7b84cc73bf1523a79c	Other clinical findings in the @DISEASE$ (CGKD) patients are mental retardation, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+4df77cbad2126f7b83c0f5107dd924235fe9aa38	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+c1219f0e0fdfc4436e8a7dde23e99ed82043f9a6	Other clinical findings in the @DISEASE$ (CGKD) patients are @PHENOTYPICFEATURE$, short stature, and hypogonadotropic hypogonadism.	false
+6f6ab8241a10facd2923fac27dec91f01f44d136	Other clinical findings in the @DISEASE$ (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+957d30bc33f72edf5b9b669b8417d0c251bbfd2a	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1103b3509f62e74298ee3d091f9ab7e6d3765c83	Mutations in the BRCA1-associated protein required for the @DISEASE$ mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, @PHENOTYPICFEATURE$, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	has_symptom
+6adf17ccf79c8fa59cda32a16b4179456bc0ab86	Mutations in the BRCA1-associated protein required for the @DISEASE$ mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable @PHENOTYPICFEATURE$ and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	has_symptom
+f05df8b98fa323e2ed84467c8dbfc7691aaf1dfd	Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with @PHENOTYPICFEATURE$, seizures, nonprogressive @DISEASE$ or dyspraxia, and cerebellar atrophy.	false
+6af7dd4ffb7a93805918dbb6079b8c81a2fa2ee7	Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable @DISEASE$ and a milder phenotype with @PHENOTYPICFEATURE$, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	false
+1e4cc6202f149df82651e597960078cfcc2c2fb1	Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with @PHENOTYPICFEATURE$, seizures, nonprogressive cerebellar ataxia or @DISEASE$, and cerebellar atrophy.	false
+599af5d2b642e84268bf961505bd11cf26f768a8	Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with @PHENOTYPICFEATURE$, @DISEASE$, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	false
+614cf2a2b4a608ff13a7b438ddcb1afa86d4093b	Mutations in the BRCA1-associated protein required for the @DISEASE$ mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with @PHENOTYPICFEATURE$, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	false
+ce9f19e27f3d8b5606a065150ed3ea2ccb244789	Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure @DISEASE$ characterized by rigidity and intractable seizures and a milder phenotype with @PHENOTYPICFEATURE$, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	false
+e9bfd5183bf8ae1e0412340ba0ca72cecc5743de	Next two sibs were males and offspring of a twin pregnancy and were found to have a malformative syndrome consistent with @DISEASE$: low birth weight; dysplastic ears; @PHENOTYPICFEATURE$, exophthalmos and cloudy corneas; bilateral cleft lip and cleft palate; severe reductive defects in both upper limbs and only syndactylia in the lower ones.	has_symptom
+00e6cee39a014083757261caf75eb7fbd0cd0bbf	@DISEASE$ is characterized by diffuse symptoms such as bloating, @PHENOTYPICFEATURE$, weight loss, anorexia, fever, diarrhoea, vomiting and ascites.	has_symptom
+9598dee571c89a4ffbaf785c17a16b6e0a2de88a	Malignant peritoneal mesothelioma is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, @PHENOTYPICFEATURE$, @DISEASE$, vomiting and ascites.	false
+3ef0e83a7965178197bf44b3595a028fef169eee	Malignant peritoneal mesothelioma is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, fever, @DISEASE$, @PHENOTYPICFEATURE$ and ascites.	false
+f212b76dd44924de85d90a255394008c65c3ae00	@DISEASE$ is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, @PHENOTYPICFEATURE$, diarrhoea, vomiting and ascites.	false
+3ac34bd2ea927c6a4dca79b886561722c3cef772	Malignant peritoneal mesothelioma is characterized by diffuse symptoms such as bloating, @DISEASE$, weight loss, anorexia, fever, diarrhoea, @PHENOTYPICFEATURE$ and ascites.	false
+f5a8a7a03dded4a8e58c9ec4204b6a89c8c4f488	@DISEASE$ is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, fever, diarrhoea, @PHENOTYPICFEATURE$ and ascites.	false
+5cd277b93df52ae7de1c683f03d3369d08ec861f	Malignant peritoneal mesothelioma is characterized by diffuse symptoms such as bloating, @DISEASE$, weight loss, anorexia, @PHENOTYPICFEATURE$, diarrhoea, vomiting and ascites.	false
+3958db3eaa415e0d5ee1228d31eb0ea16a563bf4	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	has_symptom
+81385aa93ccff00345b33e1c1c21d2beaad9b01e	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, @DISEASE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+218c6b91595957ae0c171685f804cac3a0377020	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+328af8a5a709acd279a227b2dae1bf59b34497a4	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+10a46e930dd2fa817cb0295d3a33663c10f4935f	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+50c28a67644a5e08360837a81a1e94f365abaf33	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @DISEASE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+2a16b35dc150fb14cb342e357beeb8911313b4c0	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @DISEASE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+3a7c6059fd77dfd30d0a3959f03c4097498c79d3	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+2456a92ae49661e3440d04a1bf4ac41fb9880974	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+cfe04ce850da1a4085e44d0f1ec54d44aee3155e	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+c8c625fbfc2ff23251f57150c5542dbc27f9122c	On investigation, he had @PHENOTYPICFEATURE$, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with @DISEASE$.	has_symptom
+24e02609bef5324a0b532167b6fb77fab5b1b45c	On investigation, he had hypocalcaemia, @PHENOTYPICFEATURE$ and bilateral calcification of basal ganglia in cranial tomographs; features consistent with @DISEASE$.	false
+14b87eefa0e481cc49842caa5792592516cc6304	On investigation, he had @DISEASE$, @PHENOTYPICFEATURE$ and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome.	false
+a80f766d075e0e32be86285617f8cf71b10fae0b	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	has_symptom
+ba52f9cca7a587ae1bec15d034a65576f41558a0	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	has_symptom
+b552dcb41118820734903abb04769f5dd450322f	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+f3b216f2531dce0fef416eb7c876f9c00f6a2dda	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+bb0812d065637f0878efe3d6becec19bd112d424	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+8abbaad4f5610cb1643c25119513722c46d8a5b0	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @DISEASE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+884a4ddbdfd9a1fbd5a3848d7eda6c2b5d17fb72	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+f7e01bcc1bd0b008799287893a9d573edfc35575	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+23a983cb77bafd93a775230fbd207b0d2c6f24f1	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @DISEASE$ and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+552db63d1479bc2784de5dd8e59285191105a6e5	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+440062d0236aad11eb57c9569cec276db416bdc6	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+4ae28a84f2cddda2ee1d8c95f7da335e19d62b7d	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @DISEASE$ and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+c4b3e9de7186ab495f4186b76780b7fdc38dbb2d	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+0f2b9931bfe72ba79268566a6e32c6b0d64d7d93	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+96044771245c1d48e3b1ea78ff0b557c327d5cbe	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+13916826d182aaff7b74d57bf0f3327d8ebb4f7c	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+fd250bdf4ee7094cf1323b66bc405b25ffcbafd5	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+101b22843713c4ad7ec8df658d0e9ec64e2a37c1	Children with @DISEASE$ frequently develop moderate to severe behavior difficulties and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+fc780d2183f53ee4f592b10c1b35318e2da8f96a	Results are discussed with reference to the challenges inherent in the diagnosis of @PHENOTYPICFEATURE$ in individuals with sensory impairments, and to the implications for understanding the etiology of @DISEASE$ and of ASD.	has_symptom
+b2b09b5e53abfee3c36afd74023cd74207133a44	A case of @PHENOTYPICFEATURE$ with @DISEASE$ with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.	has_symptom
+7732f6698d9cdb9f2d0fd5a7f3e6c9cdf9bcc445	A case of autism with @DISEASE$ with @PHENOTYPICFEATURE$ and a superior colobomatous cyst arising from the optic disc is reported.	false
+783ffdf1a95b9978c1dfd52837c8173935a8827c	A case of @DISEASE$ with CHARGE syndrome with @PHENOTYPICFEATURE$ and a superior colobomatous cyst arising from the optic disc is reported.	false
+f1019f9630dd5fe783ece0235e4eb5b56bb477ad	As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); M?bius sequence (M?bius), @DISEASE$ (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), @PHENOTYPICFEATURE$ spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively.	has_symptom
+b12acdc455c040f0de27b3073f6e173710c7109e	Children with @DISEASE$ frequently exhibit moderate to severe behavior difficulties, and are often diagnosed with obsessive-compulsive disorder, attention deficit disorder, Tourette syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+a3fee6f3e5be9e92bf74ff764a4c799d0329cc99	Bilateral microphthalmos with unilateral superior cyst in a child with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+fd13fcff2b11083b4ed7de269eff284b6ec3b353	Behavioral profiles and symptoms of @PHENOTYPICFEATURE$ in @DISEASE$: preliminary Canadian epidemiological data.	has_symptom
+8f09534ac10c4482fef19f49212e2a1ad74c7bf4	Comparisons of outcomes across these disabilities indicate that children with little to no cognitive impairment (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, @PHENOTYPICFEATURE$, @DISEASE$).	has_symptom
+a96a4f73fa62aa84e3186e2f280915227fe39bcd	Comparisons of outcomes across these disabilities indicate that children with little to no @PHENOTYPICFEATURE$ (eg, Waardenburg sydrome, @DISEASE$) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, CHARGE syndrome).	false
+f138063ea6336a3f82dea84b63f59e613e48c92e	Comparisons of outcomes across these disabilities indicate that children with little to no @PHENOTYPICFEATURE$ (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, @DISEASE$).	false
+227f1ec692c62f5cd1ea24fec631c6a79b37d07a	Comparisons of outcomes across these disabilities indicate that children with little to no @PHENOTYPICFEATURE$ (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, @DISEASE$, CHARGE syndrome).	false
+f8cad24c87826238bdb0ff8fc2b96bc50a27baa9	@DISEASE$ with @PHENOTYPICFEATURE$ and renal failure: report of a case.	has_symptom
+9e859f2e7a690c646a8aeef6a56b168ef72cde5e	Total lipodystrophy with @DISEASE$ and @PHENOTYPICFEATURE$: report of a case.	false
+e9c84a149f229367f732b7fb252a3f4db3b6f483	@DISEASE$ with heart failure and @PHENOTYPICFEATURE$: report of a case.	false
+f7e01bcc1bd0b008799287893a9d573edfc35575	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	has_symptom
+c4b3e9de7186ab495f4186b76780b7fdc38dbb2d	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @PHENOTYPICFEATURE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	has_symptom
+486c4bb358319112d87072eb1b50052bed6655c1	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @DISEASE$, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+b552dcb41118820734903abb04769f5dd450322f	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+85a16960039f4071163c67664139247c12ab2ca4	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and @DISEASE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+f3b216f2531dce0fef416eb7c876f9c00f6a2dda	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+bb0812d065637f0878efe3d6becec19bd112d424	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+884a4ddbdfd9a1fbd5a3848d7eda6c2b5d17fb72	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+6293161b2d8b26f1d812a54c9d0f6ba58b044c16	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+a80f766d075e0e32be86285617f8cf71b10fae0b	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+440062d0236aad11eb57c9569cec276db416bdc6	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+fbe0b42b86218802b4b8f208ee97a37903d46838	Sanjad-Sakati syndrome (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and @DISEASE$, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+0f2b9931bfe72ba79268566a6e32c6b0d64d7d93	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+96044771245c1d48e3b1ea78ff0b557c327d5cbe	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, @PHENOTYPICFEATURE$, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+03c83add64ab3fa90c796481b66aa7ec311331a6	Sanjad-Sakati syndrome (SSS) is a rare @DISEASE$ characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+13916826d182aaff7b74d57bf0f3327d8ebb4f7c	@DISEASE$ (SSS) is a rare genetic disorder characterized by congenital hypoparathyroidism, hypocalcemia and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, @PHENOTYPICFEATURE$, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+ba52f9cca7a587ae1bec15d034a65576f41558a0	Sanjad-Sakati syndrome (@DISEASE$) is a rare genetic disorder characterized by congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphatemia, seizures, severe intrauterine and postnatal growth failure, dwarfism, mental retardation, dysmorphic features including retromicrognathia and abnormal dentition and increased susceptibility to infection.	false
+2539b565bbe11d46446c7a21b94e74f9291487cf	The most frequent in Caucasian population are Friedreich @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0b42c2fdacb61021e1feb83010fb79b7174dbb1c	Chronic childhood @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+d860a7b0ae2fdcf2f0bc053720a6626490e34fa0	Friedreich @PHENOTYPICFEATURE$ was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or @DISEASE$.	has_symptom
+85900df31a393d6122cfbddbaff0121215586259	Friedreich ataxia was the most frequent AR-HCA, followed by @PHENOTYPICFEATURE$ with oculomotor apraxia or @DISEASE$.	has_symptom
+1bdec64964bed4170c070e4a2c00c92ab50ffef0	[Telangiectasic @PHENOTYPICFEATURE$, @DISEASE$].	has_symptom
+28ff8d793e35bb12b95eabbdc255c3d7b072555c	Progressive dystonia masking @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+67fcf125aa4e20456987e0c73c24a38565decbb6	@DISEASE$: without @PHENOTYPICFEATURE$ or telangiectasia?	has_symptom
+4500ec5ff3f200219d494d209b8b826da96f5561	More than @PHENOTYPICFEATURE$ - Movement disorders in @DISEASE$.	has_symptom
+0d4f1c963f4b7603e0b96ecd3a1c7a914aaeb9c1	Nerve conduction studies in children with Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+04d38057d3d3fbe06a5e1d968e6670456e6be50e	[Clinical aspects of @PHENOTYPICFEATURE$ teleangiectatica (@DISEASE$)].	has_symptom
+241ff95570f95a2187f7b129a08f8eae5449822e	Corticosteroids have been used to reduce @PHENOTYPICFEATURE$ symptoms in @DISEASE$.	has_symptom
+7e905d7dfe292ef92889a42922e8bb5954e890ae	@PHENOTYPICFEATURE$ with neuropathy and vestibular areflexia syndrome (@DISEASE$).	has_symptom
+03551c9e499ffb2d70fc4ea300340eecf24b65c7	Peripheral nerve ultrasound in @PHENOTYPICFEATURE$ neuropathy vestibular areflexia syndrome (@DISEASE$).	has_symptom
+5dc6172eb24040fbf663668682885f646b0ce281	Autonomic dysfunction is a major feature of @PHENOTYPICFEATURE$, neuropathy, vestibular areflexia '@DISEASE$' syndrome.	has_symptom
+c7cb87aaa88138f96bb73db07bb612e7b34a7ad7	@PHENOTYPICFEATURE$, neuropathy, vestibular areflexia syndrome (@DISEASE$): a review of the clinical features and video-oculographic diagnosis.	has_symptom
+cb7da8bb268d8f603e1df0c7f440de49c883bb60	[@PHENOTYPICFEATURE$ with neuropathy and vestibular areflexia syndrome (@DISEASE$): a case report].	has_symptom
+b69772f6803437a8dbceafcaca98c86526c321e9	VEMPs in a patient with @PHENOTYPICFEATURE$, neuropathy and vestibular areflexia (@DISEASE$).	has_symptom
+d00668523b98da99468ac20fdaac40108d006a71	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$) is a recently described multisystem ataxia defined by the presence of @PHENOTYPICFEATURE$, bilateral vestibulopathy, and a somatosensory deficit.	has_symptom
+e4e1acfd2b8b75681db217f809f1ed80c390b5e8	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$) is a recently described multisystem @PHENOTYPICFEATURE$ defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit.	has_symptom
+c1a845cb3ee9ffc178f1355ae339932699b83390	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem @DISEASE$ defined by the presence of cerebellar ataxia, @PHENOTYPICFEATURE$ vestibulopathy, and a somatosensory deficit.	false
+ce71c51c80dc2e86ae7a1670dc75d81bf096751a	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, @PHENOTYPICFEATURE$ vestibulopathy, and a somatosensory deficit.	false
+ea5a63fe4bd3cc8947e7cd19eb7e41d4f5a30cc8	@DISEASE$ (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, @PHENOTYPICFEATURE$ vestibulopathy, and a somatosensory deficit.	false
+af163f5a03bedc2c6a981e36ad7b7a368da3e46d	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of @DISEASE$, @PHENOTYPICFEATURE$ vestibulopathy, and a somatosensory deficit.	false
+ed4aa6f66c792a12b28d840c5c6e82e4d20e4749	@PHENOTYPICFEATURE$ with Neuropathy and Vestibular Areflexia (@DISEASE$) is likely to have a genetic basis.	has_symptom
+2e7e9d83167a19db1e602a30605845a284a6d0a1	Proposed diagnostic criteria for @PHENOTYPICFEATURE$ with neuropathy and vestibular areflexia syndrome (@DISEASE$).	has_symptom
+8d418cd504932c6fc744026fc10afe3dbf7d073c	Sensory neuronopathy is a cardinal feature of @PHENOTYPICFEATURE$ neuropathy vestibular areflexia syndrome (@DISEASE$).	has_symptom
+8bf6d0d7ce0040441de3314ecfc32d0ee7c2c719	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, @DISEASE$, and congenital heart malformations, along with other skeletal and @PHENOTYPICFEATURE$.	has_symptom
+4e1ca47115001a264043b737d112235c581e291a	The Ellis-van Creveld (EVC) syndrome is a @DISEASE$ and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+844582c7b2e298acc4034879c9963bf7bb66b447	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+5ff78677ebdeed5a97c043ca5b363aacc83f0216	The Ellis-van Creveld (EVC) @DISEASE$ is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+87239ba9e7bab803f5896be7a6fb1e5fea185569	The Ellis-van Creveld (EVC) syndrome is a @DISEASE$ and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+76665c45ab82965ebdb9491e86c99997018cfc08	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and dental abnormalities.	false
+3fe82e40c8704f03821e20507060c589793b438d	The Ellis-van Creveld (EVC) @DISEASE$ is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+8ce53f4f6aa06381b149211e8153cc50efc7d7c3	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and dental abnormalities.	false
+87b44af7dc230010bd7c39761d26c8f94ff79b56	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, @DISEASE$, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+f0be5680951b9e872930e7e97cc84f887a89ad8b	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and @DISEASE$.	false
+0f00be55c6786eafea886bece8fd2c982fa4f2db	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and @DISEASE$.	false
+67802ab92746643f9727eebdb48e60dfcc94faf7	We describe an 18-month-old child with @DISEASE$ (IHES) who presented with @PHENOTYPICFEATURE$, and cervical lymphadenopathy.	has_symptom
+597e4b9c7737c06596f144aa3fa5d460756ab22b	[@DISEASE$ in a child with @PHENOTYPICFEATURE$ and hepatomegaly].	has_symptom
+4ece579a93df3b4443f729a3888515dc45aefec5	We herein describe a case of severe hyponatremia complicated by @PHENOTYPICFEATURE$ and coma due to the intake of non-steroidal anti-inflammatory drugs (NSAIDs) in a patient on DDAVP replacement therapy for @DISEASE$ (DI).	has_symptom
+0e9ef56aac1f7a6914651ac58e2ba9e22176408e	We describe a patient with complete @DISEASE$ and @PHENOTYPICFEATURE$ who developed worsening hyponatremia when her dose of oxcarbazepine was increased.	has_symptom
+bdc7558641ce70c5f5ada3e3490cc0b3f021b175	During a subsequent hospital admission for @PHENOTYPICFEATURE$, the patient was diagnosed with transient @DISEASE$ for which he required treatment with a desmopressin infusion.	has_symptom
+dc1ea72990376883ae577d435d102893590009bb	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including obesity, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (@DISEASE$, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, @PHENOTYPICFEATURE$, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	has_symptom
+62b652f6f5c02a2629aab165bdf8fc65284bf4ba	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, @DISEASE$, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+342f979d736e035e0027fcfe7bfd55872929678b	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, @DISEASE$ (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+14c400e2361c47fdf878eaa22088f92b54a26ff8	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, @DISEASE$, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+6737e48ce1183971dc735f33c01f54d91700a09a	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic @DISEASE$, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+b9cfb60b8db6b24106b26efdd9f4b8be451bd7bc	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (@DISEASE$, hypothyroidism, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+2a25e16af8e48aa07819df4f5d698c0657c87a89	From 8 to 12 years of age, the affected twin developed features characteristic of ROHHAD including @PHENOTYPICFEATURE$, alveolar hypoventilation, scoliosis, hypothalamic dysfunction (central diabetes insipidus, @DISEASE$, premature pubarche, and growth hormone deficiency), right paraspinal/thoracic ganglioneuroblastoma, seizures, and autonomic dysregulation including altered pain perception, large and sluggishly reactive pupils, hypothermia, and profound bradycardia that required a cardiac pacemaker.	false
+18b8fff63dac3f90589c1634172c1c971f262a8b	As with many other interventions for @PHENOTYPICFEATURE$, identifying the specific functional impairments caused by @DISEASE$ may provide the best guidance towards individualized supportive care.	has_symptom
+482ef66228b44295ca521efcdc5a738a8aa71e25	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (@DISEASE$), a chronic progressive neurological syndrome characterized by parkinsonism, ataxia and other @PHENOTYPICFEATURE$.	has_symptom
+e2b6a9b6e307a478d795f6c73d6a5d3bc24822cc	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological @DISEASE$ characterized by parkinsonism, @PHENOTYPICFEATURE$ and other movement disorders.	false
+b69e6fdda90b9a045b3c6aec3c1afdc200d1cd2e	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (@DISEASE$), a chronic progressive neurological syndrome characterized by parkinsonism, @PHENOTYPICFEATURE$ and other movement disorders.	false
+3d4065f22dd2f112ba10283941faf3fbd7b5e356	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological syndrome characterized by parkinsonism, @PHENOTYPICFEATURE$ and other @DISEASE$.	false
+64ccefa0a4c565adb2a83f0e64b820c46353cc0d	A proportion of patients with chronic @DISEASE$ develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological syndrome characterized by parkinsonism, @PHENOTYPICFEATURE$ and other movement disorders.	false
+83bc88113fa6530bb68a29e95be28e1ab5784590	The alien hand syndrome (@DISEASE$) is a fascinating @PHENOTYPICFEATURE$.	has_symptom
+e9c797f9eb4163d8eae692537e961f28aca4efdb	To discriminate @DISEASE$ from conditions such as extrapyramidal @PHENOTYPICFEATURE$ and epileptic seizures that take part in differential diagnosis should be kept in mind by the clinicians.	has_symptom
+68aec5f658ebd3855ce6a18e59656d962a31910e	To discriminate @DISEASE$ from conditions such as extrapyramidal movement disorders and @PHENOTYPICFEATURE$ that take part in differential diagnosis should be kept in mind by the clinicians.	false
+4d7eb0b3f3800044fc5f30b50ea32eba36d666ea	To discriminate AHS from conditions such as extrapyramidal @DISEASE$ and @PHENOTYPICFEATURE$ that take part in differential diagnosis should be kept in mind by the clinicians.	false
+e88ccef260a865a458e71da6ae689269ea83adfe	@DISEASE$ is a defect in valine metabolism and was first reported in a child with cardiomyopathy, @PHENOTYPICFEATURE$, and secondary carnitine deficiency.	has_symptom
+c83d45f4f57a380ab5c8d1ce0ae242fac101a0c2	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; @DISEASE$, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with @PHENOTYPICFEATURE$ only.	has_symptom
+705a21cdb77093bca11a4703d4ebbc3794f6632e	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; @DISEASE$; and epilepsy with generalized tonic-clonic seizures only.	false
+ffc6b2a01aa034cfd494f06c3db62c2f306ce6ea	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; @DISEASE$; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+2acb2e59db619d408b8ca3fdd0a7f26303bb1d43	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; @DISEASE$, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+cd330ddc96463fa255b77c20f83f820f9997b5e0	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with @DISEASE$ only.	false
+4ece533f1451f1c5059a2ba1a5bbf1df83262fb8	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic @DISEASE$ (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+42863d54ae4430813cf1ecc7a6424e4be79e5b13	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; @DISEASE$; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+37b61cf2695aaa995031ea2522c7be89c436676a	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including @DISEASE$ (GEFS +), severe myoclonic epilepsy in infancy (SMEI), intractable childhood epilepsy with @PHENOTYPICFEATURE$ (ICEGTC), and benign familial neonatal-infantile seizures (BFNIS).	has_symptom
+2e9b60ca311ac4a361db083629464be2c981c580	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and @DISEASE$ (BFNIS).	false
+4710734bcb1a1909cfe4a36ad11a46ccac123bb1	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with @DISEASE$ (ICEGTC), and benign familial neonatal-infantile seizures (BFNIS).	false
+403db859de5130dc9c051ccf9d3f2267c4f3a8f5	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including @DISEASE$ (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and benign familial neonatal-infantile seizures (BFNIS).	false
+9e9e582fb8d279585e566b5ca5eb6c26f839dc62	Gene dosage as a mechanism for a common autosomal dominant @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+9331bfc52fac6240576eeda1f3633a8c4e1e6703	Rare copy number variations by the nonrecurrent rearrangements involving PMP22 have been recently suggested to be associated with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+7f00e52b22b2461d3625d19f850b38b086c523aa	Increase of pmp22 transcription causes @PHENOTYPICFEATURE$, @DISEASE$ (CMT1A).	has_symptom
+a2b5feeff4c48daa2938f4350db13e63603947f7	@DISEASE$ (CMT1A) is a hereditary @PHENOTYPICFEATURE$ with a genetic locus on chromosome 17p11.2.	has_symptom
+1b916f9735b3c806e575fa61ab5eca4093a87a46	@DISEASE$ (CMT1A) is the most common inherited @PHENOTYPICFEATURE$ in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs).	has_symptom
+101de71bddf808baf14dced39dfd26574ca2ce98	@DISEASE$ (CMT1A) is a hereditary @PHENOTYPICFEATURE$ that affects roughly one in 5000 births.	has_symptom
+c52af15b24467a1a0b310c801415a64cb74aafd3	@DISEASE$ is the most frequent inherited @PHENOTYPICFEATURE$.	has_symptom
+6b9f6afff28a81c019eedc712d157b0f13c0406c	@DISEASE$: molecular mechanisms of gene dosage and point mutation underlying a common inherited @PHENOTYPICFEATURE$.	has_symptom
+b77ce3571ba71dac5438b705bcb84d8bbe2b844f	An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+2e87a99ea0cb74edc8093a6cc1df6d7d035bfa9a	Overexpression of the 22-kDa peripheral myelin protein (PMP22) causes the inherited @PHENOTYPICFEATURE$, @DISEASE$ (CMT1A).	has_symptom
+5b6296907d43984f4c3c38bdcc61d80a2546e25c	@PHENOTYPICFEATURE$ and EEG features in juvenile @DISEASE$.	has_symptom
+fc0e88d1418add1833e974c5b47cf3706550afca	[A @PHENOTYPICFEATURE$ in a patient with @DISEASE$].	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b2f99c0305211c7fe404efd2c67363ad148b4b3d	Neurologic manifestations, in special @PHENOTYPICFEATURE$, are frequent in @DISEASE$.	has_symptom
+4b4a21d95c60af64445d93d08251d4df698465c2	Clinical description of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+f2a365987bda6cf0c6f900b2bc63b9829d72746d	Choreoathetosis and @PHENOTYPICFEATURE$ associated with @DISEASE$--a case report.	has_symptom
+e22ae590a9089e321da0c0cba721be198fe215ec	Factors at diagnosis predict subsequent occurrence of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+70565fa1beb9e20095b0c434e2f240938fd0334b	Hydroxychloroquine-induced @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+b51f678126c595d111b8dc34df0754b2b6507dde	Evaluation and treatment of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+3d75947c93f952fb0f849b3cbad57d162ce231c5	Almost all children who developed @PHENOTYPICFEATURE$ had an established diagnosis of systemic lupus erythematosus; only one child had seizures that led to the diagnosis of @DISEASE$.	has_symptom
+dc63e0420ab3245258458b757db29d92a2cbe20d	Almost all children who developed seizures had an established diagnosis of @DISEASE$; only one child had @PHENOTYPICFEATURE$ that led to the diagnosis of systemic lupus erythematosus.	has_symptom
+ed6480b0523f1219f8dab309baa61123327e617d	Almost all children who developed @PHENOTYPICFEATURE$ had an established diagnosis of @DISEASE$; only one child had seizures that led to the diagnosis of systemic lupus erythematosus.	has_symptom
+707871c4ddd99169d50e66b8a111f0e769e28a0e	Almost all children who developed seizures had an established diagnosis of systemic lupus erythematosus; only one child had @PHENOTYPICFEATURE$ that led to the diagnosis of @DISEASE$.	has_symptom
+e4b20da6519a2b5d51715386d83d55951e7d36c2	Early angiotensin-converting enzyme inhibition in @DISEASE$ delays @PHENOTYPICFEATURE$ and improves life expectancy.	has_symptom
+b68c1f6b37fed7fcde450247bd2aa9b7c8f54851	@DISEASE$ is a rare but important cause of @PHENOTYPICFEATURE$.	has_symptom
+96920e58ad031928f44baf0baefeaf781576c6ba	@DISEASE$ (AS) is a progressive renal disease characterized by hematuria and progressive @PHENOTYPICFEATURE$.	has_symptom
+4805298e9b1405bc61eaf9715e443ef291e74180	@DISEASE$ (AS) is a progressive renal disease characterized by haematuria and progressive @PHENOTYPICFEATURE$.	has_symptom
+3e5044a1adbc179204035f74208aafae3a558216	A progressive trajectory toward @PHENOTYPICFEATURE$ is common in patients with @DISEASE$.	has_symptom
+91b11dc4bc058ae1ee5f8328633690aca0b65e48	@DISEASE$ is a hereditary nephropathy that results in irreversible, progressive @PHENOTYPICFEATURE$.	has_symptom
+3cc9177438c719dcd0988e525cb6b2a17b478c7e	@DISEASE$ is a rare hereditary kidney disease manifested with progressive @PHENOTYPICFEATURE$.	has_symptom
+a5daa0b40b58083c2e7f70ade2624bd498d11954	Alport syndrome (AS) is a progressive @DISEASE$ presented with hematuria and @PHENOTYPICFEATURE$, frequently associated with sensorineural deafness and ocular lesions.	has_symptom
+d79104256819bcff896e03fbee9e929c5c306e8e	@DISEASE$ (AS) is a progressive hereditary nephritis presented with hematuria and @PHENOTYPICFEATURE$, frequently associated with sensorineural deafness and ocular lesions.	has_symptom
+044eaf3c2cf6c355cb5126acb9f5951ef5c37d5e	Alport syndrome (AS) is a progressive @DISEASE$ presented with hematuria and renal failure, frequently associated with @PHENOTYPICFEATURE$ and ocular lesions.	false
+2b7d4304cbc2ba1a93461e77e4646a5fcd1589c4	@DISEASE$ (AS) is a progressive hereditary nephritis presented with hematuria and renal failure, frequently associated with @PHENOTYPICFEATURE$ and ocular lesions.	false
+ec400339b7d14aedbf0cc2ea89953d7695250872	Alport syndrome (AS) is a progressive hereditary nephritis presented with hematuria and @DISEASE$, frequently associated with @PHENOTYPICFEATURE$ and ocular lesions.	false
+d1f8a6726a706f51dd67dfb676376959e169bcff	@DISEASE$ is a hereditary nephropathy leading to @PHENOTYPICFEATURE$ during adolescence.	has_symptom
+4d8d92b3599c51741ba865ff9f71696a2a1cdeb3	@DISEASE$ is the second commonest monogenic cause of @PHENOTYPICFEATURE$ after autosomal dominant polycystic kidney disease.	has_symptom
+8224ba042e478668a56c807a3b5d20aa5ced583b	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in @DISEASE$ and late onset of dystonia/parkinsonism in RDP.	has_symptom
+2194d2ab53908e47a65f65288047bc149edbaf8c	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, @PHENOTYPICFEATURE$ encephalopathy and impairment of vision and hearing in @DISEASE$ and late onset of dystonia/parkinsonism in RDP.	false
+cb092643c498cf37bcac05300f7b05f207b5e806	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in @DISEASE$, @PHENOTYPICFEATURE$ encephalopathy and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+a901af7881f4f28667699f0ce94ab8d15843e5e6	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/@DISEASE$ episodes and mental decline in AHC, @PHENOTYPICFEATURE$ encephalopathy and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+2b2a4d8787d2d210207f57af803bf61c458a3d40	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, @PHENOTYPICFEATURE$ @DISEASE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+8e29464381f7907be0e000ce6ba2785b034115eb	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, @PHENOTYPICFEATURE$ encephalopathy and impairment of vision and hearing in CAPOS syndrome and late onset of @DISEASE$/parkinsonism in RDP.	false
+7edc2b87c7ffb4b568d4ec1a9e38d834804ca723	[@DISEASE$ associated with @PHENOTYPICFEATURE$].	has_symptom
+6d225c0418ee8a35707d90c64be02a4f2bb3b686	X-linked hypophosphatemic rickets (@DISEASE$) is characterized by rickets, @PHENOTYPICFEATURE$, and impaired renal phosphate reabsorption and vitamin D metabolism.	has_symptom
+7842c3d44eb653056aeafa7e090a137141a07b70	Hypophosphatemia associated with @PHENOTYPICFEATURE$ and bone deformities of the lower limbs are the main findings in @DISEASE$ patients.	has_symptom
+a8ba6be2a3a3c82694177d393d0d085c1a58ad18	At baseline, @DISEASE$ patients showed @PHENOTYPICFEATURE$ with reduced standardized height (-3.2???0.6), sitting height (-1.7???0.6), leg (-3.7???0.7) and arm (-2.5???0.8) length, and markedly elevated sitting height index (3.3	has_symptom
+3e1474e3d93fa1b92d0b23dfcf8a2bf241f23afd	X-linked hypophosphataemia (@DISEASE$) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and @PHENOTYPICFEATURE$ in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults.	has_symptom
+82f7705ce7c262b7e8f1c5bcf219eca99b83aa0e	X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, @PHENOTYPICFEATURE$, pain, poor mineralization of the teeth and @DISEASE$ in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults.	false
+d09c027e0574d05c333a05d8f5c4383d118f33c0	X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, @PHENOTYPICFEATURE$, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, @DISEASE$ and pseudofractures in adults.	false
+ae56357ffaf52766dfd8b792ad75d63e4060ec1d	X-linked hypophosphataemia (@DISEASE$) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, @PHENOTYPICFEATURE$, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults.	false
+878b1d905448ed434c8f0782fc71196b60237a90	The tumor-suppressing function of miRNA-107 (miR-107) was confirmed in @DISEASE$ in 52 paired clinical specimens and @PHENOTYPICFEATURE$ cell lines.	has_symptom
+99842b8028acc093b2ebcf2c4fac30e2ed5e7229	The @PHENOTYPICFEATURE$-suppressing function of miRNA-107 (miR-107) was confirmed in @DISEASE$ in 52 paired clinical specimens and renal cell carcinoma cell lines.	false
+464c38b55e058877b7c071dea7a34cbce897921c	The @PHENOTYPICFEATURE$-suppressing function of miRNA-107 (miR-107) was confirmed in clear cell renal cell carcinoma in 52 paired clinical specimens and @DISEASE$ cell lines.	false
+cacd18311abdbb40d3f9e07e873792d586bbb299	We describe two unrelated children with @DISEASE$, a severe autosomal dominant form of chondrodysplastic dwarfism associated with @PHENOTYPICFEATURE$, progressive arthropathy, myopia and retinal detachment.	has_symptom
+c3bd3749de66fa7d85343b1f8ea88cc542b28bb6	@DISEASE$ is an extremely rare form of type II collagenopathy associated with @PHENOTYPICFEATURE$, micrognathia, shortened trunk, arms and legs, and club foot.	has_symptom
+d43aa5e5da5aa24d418e57c5d574bd06330cbd59	Kniest dysplasia is an extremely rare form of type II @DISEASE$ associated with cleft palate, micrognathia, shortened trunk, arms and legs, and @PHENOTYPICFEATURE$.	false
+77523053fd7b71823add241a120ba30c3f244e1a	@DISEASE$ is an extremely rare form of type II collagenopathy associated with cleft palate, micrognathia, shortened trunk, arms and legs, and @PHENOTYPICFEATURE$.	false
+475b032e1511d1ae7a86bea912df0eec45a08cd9	Kniest dysplasia is an extremely rare form of type II collagenopathy associated with @DISEASE$, @PHENOTYPICFEATURE$, shortened trunk, arms and legs, and club foot.	false
+c8812f6d89c5ffc3e0a17a4e75c438b69655f05e	Kniest dysplasia is an extremely rare form of type II collagenopathy associated with @DISEASE$, micrognathia, shortened trunk, arms and legs, and @PHENOTYPICFEATURE$.	false
+ded17570c279a7608e214aa07d5ae575cddfaaae	@DISEASE$ is an extremely rare form of type II collagenopathy associated with cleft palate, @PHENOTYPICFEATURE$, shortened trunk, arms and legs, and club foot.	false
+cff079b0b62c4000b29e37e9dc5c1a7d49488b4d	Kniest dysplasia is an extremely rare form of type II @DISEASE$ associated with cleft palate, @PHENOTYPICFEATURE$, shortened trunk, arms and legs, and club foot.	false
+0a23a72aea8ce226e600a5e1f2d21dc88c51e8ce	In five cases, it helped to differentiate isolated @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+baf2e290d0de8d99ba8fddc59317c869d2f09ef0	Convulsive disorders, intraventricular hemorrhage and @DISEASE$, @PHENOTYPICFEATURE$, and development deficits were found.	has_symptom
+412b9f93c0383b6c95cf1522a143f9c835914b30	Brain anomalies included internal @DISEASE$, olfactory aplasia, and @PHENOTYPICFEATURE$.	has_symptom
+c74f25d9e6e310b7df918c0c51140e239988ea9f	Lissencephaly, @DISEASE$ and @PHENOTYPICFEATURE$ were also frequently observed.	has_symptom
+b76a8253f052011aa604d411fa66cadf9ef5768d	External @DISEASE$ associated with microencephaly and @PHENOTYPICFEATURE$.	has_symptom
+2ace6edcb8c736ad539cdeafc57435af735767ba	Osteochondrodysplasia with rhizomelia, platyspondyly, @PHENOTYPICFEATURE$, thrombocytopenia, @DISEASE$, and hypertension.	has_symptom
+6398be139ca930de43a09cf4c818da69f12d14bf	These include occipital encephalocele, @DISEASE$, aqueductal stenosis, @PHENOTYPICFEATURE$, multiple congenital lipomas and many others.	has_symptom
+bef7a7be57882d3d612d164359b42700ab314833	Imaging revealed calcification of the right globe, @DISEASE$, @PHENOTYPICFEATURE$, multiple intracranial cysts, calcification, and lipomas.	has_symptom
+396f5742f4857a819c15c47e647c8dba5b1e1bb5	associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9aa980b86a126094c2b6ecabca662f6e24ea4096	Myelomeningocele with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+760fb37ee1e20dd7d2b48dc3df9a64819c766eff	Slit-lamp examination revealed bilateral anterior non-granulomatous @PHENOTYPICFEATURE$ and @DISEASE$ was diagnosed.	has_symptom
+0145ff572700aedd1f36816f3d901fdb2fdcf9c6	Acute renal failure due to idiopathic tubulo-interstitial nephritis associated with bilateral @PHENOTYPICFEATURE$ (@DISEASE$) is a rare clinical event, contracted mainly by girls or women.	has_symptom
+967c2d7a1af83264358069403fb18936e0de0bc1	It is usually associated with other anomalies like complete atrioventricular canal defect, polysplenic syndrome, isolated @PHENOTYPICFEATURE$, @DISEASE$, or persistent left superior vena cava.	has_symptom
+fc3af040cfc87b1a271c78151107e4ddd8fc494b	Six patients (60%, p < 0.01) with @DISEASE$ experienced side effects ranging from mild ones like @PHENOTYPICFEATURE$, nausea and vomiting, urticaria, and facial flushing to severe ones such as high fever, hypotension, and severe myelosuppression as well as fulminant hepatitis, which led to the death of one patient.	has_symptom
+ca89ea0fe08f3c26a84c116f3720342161c03327	Six patients (60%, p < 0.01) with @DISEASE$ experienced side effects ranging from mild ones like abdominal pain, @PHENOTYPICFEATURE$, urticaria, and facial flushing to severe ones such as high fever, hypotension, and severe myelosuppression as well as fulminant hepatitis, which led to the death of one patient.	false
+bf19789420fea5fd821f95db00de6d45a49c8413	Six patients (60%, p < 0.01) with AOSD experienced side effects ranging from mild ones like abdominal pain, @PHENOTYPICFEATURE$, urticaria, and facial flushing to severe ones such as high fever, hypotension, and severe myelosuppression as well as fulminant @DISEASE$, which led to the death of one patient.	false
+0b7920578b057a0b082d7b65b27a0b2d4aef06a4	Six patients (60%, p < 0.01) with AOSD experienced side effects ranging from mild ones like abdominal pain, @PHENOTYPICFEATURE$, urticaria, and facial flushing to severe ones such as high fever, @DISEASE$, and severe myelosuppression as well as fulminant hepatitis, which led to the death of one patient.	false
+5cc736e4685c8b1c47127be60e4a04baca1019a6	Six patients (60%, p < 0.01) with AOSD experienced side effects ranging from mild ones like @DISEASE$, @PHENOTYPICFEATURE$, urticaria, and facial flushing to severe ones such as high fever, hypotension, and severe myelosuppression as well as fulminant hepatitis, which led to the death of one patient.	false
+fccae3e2d97b0ae916d54ee7ef157def7682ce74	However, the finding of an interrupted aortic arch type B is unusual in @DISEASE$, although it is a frequent @PHENOTYPICFEATURE$ in the 22q11 deletion syndrome.	has_symptom
+e7723920ec44a196c0beee64153cde9b83c96556	The location of this gene in the @DISEASE$ critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the @PHENOTYPICFEATURE$.	has_symptom
+203d561b942a33db9c274c6b0b46980bf4fb3296	The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of @DISEASE$, particularly the @PHENOTYPICFEATURE$.	has_symptom
+9627cb1d9c140168120e1f475cb26ed6c1c1130d	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, @PHENOTYPICFEATURE$, urinary tracts anomalies, and mental and physical retardation.	has_symptom
+877695649f743dcc8a4972439d2e89f12e313346	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, @PHENOTYPICFEATURE$, urinary tracts anomalies, and mental and physical retardation.	has_symptom
+af7e07bde18a901a42764fe7c033f8f3b789fe61	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @PHENOTYPICFEATURE$, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation.	false
+d0bc5c60115231ff90b80419c13a6c17b158a281	The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, @DISEASE$, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+b2c89724132f07667f0ccf4a3e042b4f31cccf3e	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+b5ab5706f7d999354347f98533502b0d5415542e	The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @PHENOTYPICFEATURE$, ocular coloboma, preauricular tags or sinuses, @DISEASE$, urinary tracts anomalies, and mental and physical retardation.	false
+1b9a3aae65ea835b26b750cfcf1ba9ab2e512e69	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+39ee6c8480bd29c090790a6ac1da5815d2e17b17	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including @PHENOTYPICFEATURE$, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation.	false
+ac47d8ad3cd2a27a9100946206907e0d6b5bd476	All the studies included adult participants where there was evidence of @DISEASE$ and endothelial failure requiring a corneal transplant for the treatment of @PHENOTYPICFEATURE$.	has_symptom
+f18d4fd73c2b5baf61589e9b4d9358929601eba7	A 58-year-old male patient presented with bilateral @PHENOTYPICFEATURE$ owing to @DISEASE$ and visually significant cataract.	has_symptom
+0d46f9b3bfa6c67e09fb54eba89320dd97e33eec	A 58-year-old male patient presented with bilateral @DISEASE$ owing to FED and visually significant @PHENOTYPICFEATURE$.	false
+f09d2d7b87c073927249179952542566210250b5	A 58-year-old male patient presented with bilateral visual impairment owing to @DISEASE$ and visually significant @PHENOTYPICFEATURE$.	false
+3e1f7d2616e55771aa95550a0488b0022355c460	The clinical and laboratory abnormalities in @DISEASE$ are atherosclerosis at old age, @PHENOTYPICFEATURE$, and dense corneal opacification.	has_symptom
+19bb3c05e1a9c4bfc6dca078661036d62367497b	@DISEASE$ (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, @PHENOTYPICFEATURE$, epilepsy, and amelogenesis imperfecta.	has_symptom
+4b46b8a2dd5f76fb29a9037c8ca1fcf7daaff12c	@DISEASE$ (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, @PHENOTYPICFEATURE$, epilepsy, and amelogenesis imperfecta.	has_symptom
+e1ce545bd66ff7fc69467b33d4ffbba55383c7b5	Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity, epilepsy, and @DISEASE$.	false
+4e9152047cbb6641337916df6645418944d28890	@DISEASE$ (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity, epilepsy, and amelogenesis imperfecta.	false
+dc35983e7112416b6f2d3e8cc5b4ac3f11d011dc	Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and amelogenesis imperfecta.	false
+07f8ebbb7a7b2981f207732b9c512e1b52d60806	The syndrome of @DISEASE$, or Charcot-Marie-Tooth (CMT), disease represents the most common inherited @PHENOTYPICFEATURE$, with a prevalence of about 1 per 2500.	has_symptom
+c8f9ede21546a03391e618c545d778bfcdfe639a	We present with similar @DISEASE$, rigidity of upper extremities, severe @PHENOTYPICFEATURE$, mental retardation and diabetes mellitus.	has_symptom
+0ae03c2cb22ace7ae3fa0366381050fde088c344	We present with similar @DISEASE$, rigidity of upper extremities, severe peripheral neuropathy, @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+80aa73976582a4d4d8e70922a3aa77d332d15f56	We present with similar peroneal muscular atrophy, rigidity of @DISEASE$ extremities, severe peripheral neuropathy, @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+69f83a01c293d7352c80dd95b52cafe90e110f2b	We present with similar peroneal muscular atrophy, rigidity of upper extremities, severe @DISEASE$, @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+d8be60e1421796b56ece870bb6025ffefd20795f	We present with similar peroneal muscular atrophy, rigidity of upper extremities, severe peripheral neuropathy, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+587eb9a1083cabb33fdf9c371ddc62de22b470a0	Salmonella vertebral @PHENOTYPICFEATURE$ and epidural abscess in a child with @DISEASE$.	has_symptom
+8e640d59025f478c4b5e1c0765d9f72b64b52a93	A case of Salmonella vertebral @PHENOTYPICFEATURE$ with epidural abscess in a child with @DISEASE$ is presented.	has_symptom
+576c32ba6b575cbd7ecb9b59dc62b445181fa431	We show that loss of human CHSY1 function causes autosomal-recessive @DISEASE$ (TPBS), mainly characterized by limb malformations, @PHENOTYPICFEATURE$, and hearing loss.	has_symptom
+62803d55ed4b9e141ef1f22ff994511fe10a53d1	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, @PHENOTYPICFEATURE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	has_symptom
+d45f7bd360bcb54988a54517287208db7c8be91e	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+802fd63aa509d085530c31f82ca76b4c8c49c59f	@DISEASE$ is a rare clinical condition characterized by @PHENOTYPICFEATURE$ with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+859245a3fec8edccc6a4e991ff48f2d921ac1409	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by @PHENOTYPICFEATURE$ with impairment of expressive language, short stature, @DISEASE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+51471ad106d4885dfa562183467295d8f61e4097	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, @PHENOTYPICFEATURE$, @DISEASE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+1287246846a9d9976f6cf5cae61e9a36523950b4	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, @DISEASE$, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+ad525b60144e56de125de4a6629355b7872e5808	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, @PHENOTYPICFEATURE$, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+ba342880e6fbabee6318ff9129f29843e6740b07	Osteoma-like @DISEASE$: a rare type of @PHENOTYPICFEATURE$ depicted on FDG PET/CT.	has_symptom
+18e644e2e6b18e9488a24f20b796c5c9592fa13c	Re: Osteoma-like @DISEASE$: a rare type of @PHENOTYPICFEATURE$ depicted on FDG PET/CT.	has_symptom
+15e2fe2e50911995e0b6f6411a82dfeda923d5bd	Response to: letter to the editor re: Osteoma-like @DISEASE$: a rare type of @PHENOTYPICFEATURE$ depicted on FDG PET/CT.	has_symptom
+0eedfa81b1c378d8488b2778c37536d7d7ac1ab7	Clinical features, including learning disability, @PHENOTYPICFEATURE$ and amelogenesis imperfecta, initially suggested a diagnosis of @DISEASE$.	has_symptom
+af7a09c61bc12007cc687a4b6240ea801a97fc01	Clinical features, including learning @PHENOTYPICFEATURE$, @DISEASE$ and amelogenesis imperfecta, initially suggested a diagnosis of Kohlschutter-Tonz syndrome.	false
+0625885f54b9337d17efaa31dc51fc162efd79f3	Clinical features, including learning @PHENOTYPICFEATURE$, seizures and amelogenesis imperfecta, initially suggested a diagnosis of @DISEASE$.	false
+3259998043a0712e72faf30894530ddc26a1d4c6	Clinical features, including learning @PHENOTYPICFEATURE$, seizures and @DISEASE$, initially suggested a diagnosis of Kohlschutter-Tonz syndrome.	false
+3eb3a479f4834865d32c0aef42afad23c560ea77	@DISEASE$ (KTS) is a rare neurodegenerative disorder that presents with @PHENOTYPICFEATURE$, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+fc48c6852758354cb71a884498661541a16d044a	Frequency of occurrence of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+9654b8a46162d2754d6998e0026fd1f2d454bcc7	The frequency of the occurrence of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b9079d4e568d32d2a335284433c8e99d2a92b01e	Occurrence of @PHENOTYPICFEATURE$ and keratoconus with @DISEASE$.	has_symptom
+b921ad76e4c26358bcbcc0c1699bef79092ca5be	@DISEASE$ @PHENOTYPICFEATURE$ and keratoconus.	has_symptom
+308bf986f045ea6a46f8f503ea0a4009bfc62bd1	Frequency of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+6fbc15d4b2ecf489c2d2dab9e238d008f6d1b234	[@DISEASE$, @PHENOTYPICFEATURE$ and keratoconus].	has_symptom
+b9eaeebee5eb1b98dd203d9bdd58cb76a81d73d5	Screening for @PHENOTYPICFEATURE$ in patients with severe @DISEASE$.	has_symptom
+b1200682f5b2d81cfcd8502ca97acd72189a43c6	Additional report on the occurrence of @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+dc085a13f21cb6ce0ac858e50f9375b75100c36c	The differential diagnosis for vertical @PHENOTYPICFEATURE$ includes oculomotor nerve palsy, superior oblique palsy, restrictive ophthalmopathies, @DISEASE$, and skew deviation.	has_symptom
+41e52a743b97682fac5108b955615e6eff7bab0f	Cavernous sinus syndrome (@DISEASE$) is a condition characterized by multiple cranial nerve palsies manifesting with ophthalmoplegia, @PHENOTYPICFEATURE$, and facial sensory loss due to involvement of adjacent cranial nerves.	has_symptom
+8723df0d21a395a4a44e16e8299775bdd171869d	Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy @PHENOTYPICFEATURE$ and Ophthalmoplegia (@DISEASE$) syndrome.	has_symptom
+b29bb6df0ae08217900a58c10685f4947b7f9e40	Genetic testing revealed a compound heterozygous mutation in the POLG1 gene consistent with the diagnosis of Sensory Ataxia Neuropathy @PHENOTYPICFEATURE$ and Ophthalmoplegia (@DISEASE$) syndrome.	has_symptom
+e2531f1716f3b05500039f0af4d6ba65d2f077d4	@DISEASE$ (tyrosinemia type 2) is an inborn error of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including @PHENOTYPICFEATURE$ and keratosis palmoplantaris.	has_symptom
+800f80f8a77a24377302f51be94d0d0a2a9b1032	The heart failure etiologies were: @PHENOTYPICFEATURE$ heart disease (78 patients, 27.1%); idiopathic dilated cardiomyopathy (73 patients, 25.4%); ischemic cardiomyopathy (65 patients, 22.6%); Chagas disease (42 patients, 14.6%); alcoholic cardiomyopathy (9 patients, 3.1%); @DISEASE$ (6 patients, 2.1%); valvular heart disease (2 patients, 4.2%) and viral myocarditis (3 patients, 1.04%).	has_symptom
+713f333d1b708616d9654d91a851ca563a467c1c	Early intervention and recognition of @DISEASE$ with control of risk factors and close surveillance will decrease complications and @PHENOTYPICFEATURE$.	has_symptom
+5be9bd8c62502f27d0be80b0dc61faea5d6c8269	Early diagnosis of the @DISEASE$ is essential to prevent irreversible @PHENOTYPICFEATURE$.	has_symptom
+414ac4208ebc1d44a71c3d011de2efa21aa721b2	Early diagnosis of the @DISEASE$ is important to avoid upper urinary tract damage and @PHENOTYPICFEATURE$.	has_symptom
+b299ab2cd6cd2aafce488e223ba35b57067c0a72	Mutations in EIF2S3, encoding the eIF2? subunit, are associated with severe intellectual disability and @PHENOTYPICFEATURE$, usually as part of @DISEASE$.	has_symptom
+1d4f76a1f93385890874a25becb571f1310c91fb	Mutations in EIF2S3, encoding the eIF2? subunit, are associated with severe @PHENOTYPICFEATURE$ and @DISEASE$, usually as part of MEHMO syndrome.	false
+b0c74ebd12603eed81ba0d99f0b5c821b34467fa	Mutations in EIF2S3, encoding the eIF2? subunit, are associated with severe @PHENOTYPICFEATURE$ and microcephaly, usually as part of @DISEASE$.	false
+3c46f0f4a572618b4faec848d9e2032eb0831e2c	@DISEASE$ is an uncommon disease, and the primary @PHENOTYPICFEATURE$ is usually at the site of a recent injury.	has_symptom
+2441b07aad23138629008a3d7ff90c0a0cfdd7ce	PTEN, encoding a dual phosphatase @PHENOTYPICFEATURE$ suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and @DISEASE$ (BRRS), respectively.	has_symptom
+e70ee6d4c8aa6c209e1959bf99df19b3ce6f0925	PTEN, encoding a dual phosphatase @PHENOTYPICFEATURE$ suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$), respectively.	has_symptom
+2ccdd7237a2594f318ecd7717beea71efeb32ab1	To date, 110 germline PTEN mutations have been reported in patients affected with two @PHENOTYPICFEATURE$ predisposing syndromes, each having overlapping clinical features: Cowden disease and @DISEASE$.	has_symptom
+98383b443f073d46adce474d464fc147e4d70760	Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting @PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+0a97e83bdf0e6ea01b632cdc1653426b1375a61a	Germline mutations in the @PHENOTYPICFEATURE$-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), @DISEASE$, and autism.	has_symptom
+9ef414738f2ceed64073b74ca48d231d7f2364c9	Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of @DISEASE$ (CS), Bannayan-Riley-Ruvalcaba syndrome, and @PHENOTYPICFEATURE$.	false
+918920bd887175a414f9d46e2e6f0230b15a4060	Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), @DISEASE$, and @PHENOTYPICFEATURE$.	false
+37dfc8d52ede9b2f9d2eea67259031630f64ef14	Germline mutations in the @DISEASE$-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and @PHENOTYPICFEATURE$.	false
+0505c156870c6de010dcfe44562a7ff53bdabf29	PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), @DISEASE$ (BRRS), and other conditions resulting from germline mutation of the PTEN @PHENOTYPICFEATURE$ suppressor gene.	has_symptom
+c3881c88ddbbb7a3886a91310e5b368185ce63ab	PTEN Hamartoma @PHENOTYPICFEATURE$ Syndrome (PHTS) includes Cowden syndrome (CS), @DISEASE$ (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene.	has_symptom
+839438bea4461977e9f176fb0169ae67ca5fb3f5	PTEN @PHENOTYPICFEATURE$ Tumour Syndrome (PHTS) includes Cowden syndrome (CS), @DISEASE$ (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene.	false
+830962743694cfb925888823485a9f0007df9451	PTEN @PHENOTYPICFEATURE$ Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN @DISEASE$ suppressor gene.	false
+2afd71ad57d365cb0e709c020a2c1db315527368	PTEN @PHENOTYPICFEATURE$ Tumour @DISEASE$ (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene.	false
+65f669e89dce7581cc95204ee3ae3c70e38a9d0c	PTEN @PHENOTYPICFEATURE$ @DISEASE$ Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene.	false
+c658bba04df92dd08202d6ca14eb58ebe632c299	PTEN @PHENOTYPICFEATURE$ Tumour Syndrome (PHTS) includes @DISEASE$ (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene.	false
+ba3d2a21f5338a0e1f1caec85c381160543943f1	The spectrum of clinical findings associated with PTEN @PHENOTYPICFEATURE$ suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and @DISEASE$.	has_symptom
+046b8cb233f64de9c2ebcf9485831893a1f393b9	Mutations of the @PHENOTYPICFEATURE$ suppressor gene PTEN have been found in the germline of both CS and @DISEASE$ patients.	has_symptom
+819d762abdc81c1b3a235be150e0c903ff7f443b	Germline mutations in the @PHENOTYPICFEATURE$ suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and @DISEASE$ (BRR).	has_symptom
+1ef20968102623f18727d790b6bcdd39ba996a06	Germline mutations in the @DISEASE$ suppressor gene PTEN have been implicated in two @PHENOTYPICFEATURE$ syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR).	false
+0a9ff658eaba5ea3196d9df3316d673ccfdaa5f7	Germline mutations in the tumour suppressor gene PTEN have been implicated in two @PHENOTYPICFEATURE$ syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and @DISEASE$ (BRR).	false
+876bad1402f73cc4edf34a59d2fb52b379c0f3fd	Germline mutations in the tumour suppressor gene PTEN have been implicated in two @PHENOTYPICFEATURE$ syndromes that exhibit some clinical overlap, @DISEASE$ (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR).	false
+80fb37639269002d966348a9879484c041d72543	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) and proteus syndrome are disorders known as PTEN hamartoma @PHENOTYPICFEATURE$ syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	has_symptom
+f855bb51db4f021da2846b502c44372b7c7fa1b1	Cowden syndrome (CS), @DISEASE$ (BRRS) and proteus syndrome are disorders known as PTEN hamartoma @PHENOTYPICFEATURE$ syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	has_symptom
+ffd8c6e7c98394494736fa8265286ecd2bf6d9a4	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+b30b5ec2b5ddda5790858bb85767f0916355eaa2	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ tumour @DISEASE$ (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+37b8d2911caabf48c8fdbbfe46ba513ce65536fc	@DISEASE$ (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+1bd83585946be6b8a41a0d1594a99ea6e0adf184	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and @DISEASE$ are disorders known as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+f5d38cb11b0ee2d48eeb77460bd60dfb5825dade	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ @DISEASE$ syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+00a09681ca4d727a618070325ae5990b77b472f1	Cowden syndrome (CS), @DISEASE$ (BRRS) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+c095cfc1ee73f16ea939605a20c82836f712cf41	The @DISEASE$: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial @PHENOTYPICFEATURE$.	has_symptom
+4625431875037d3bbc9c1d8df05a955f99e36a9f	The association of @PHENOTYPICFEATURE$, dystonia, and bilateral temporal arachnoid cysts, shown either by computed tomography or magnetic resonance imaging, seems to be diagnostic of @DISEASE$.	has_symptom
+274279075ffa90da7377d7e9ea6a96aeafc287f2	Infants with @PHENOTYPICFEATURE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, @DISEASE$), a not-so-rare autosomal recessive neurometabolic disease.	has_symptom
+412be54b7154b1e51d6c34b5738c35a26afe7a75	Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @PHENOTYPICFEATURE$, or dystonia may be affected by glutaric aciduria type I (GA 1, @DISEASE$), a not-so-rare autosomal recessive neurometabolic disease.	false
+ff140601bda53a2c6c0184807b3f84fb085a9b47	Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @PHENOTYPICFEATURE$, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive @DISEASE$.	false
+ebf96e3b49cb0179d0abec480b8bd557c09dfc23	Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @PHENOTYPICFEATURE$, or dystonia may be affected by @DISEASE$ type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.	false
+94e94ce695942f36f9b10928d89cc73bd9e726b0	Infants with @DISEASE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @PHENOTYPICFEATURE$, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.	false
+f7bb15018c3cf35f721e2ccb468e8b92ed0513ed	Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @PHENOTYPICFEATURE$, or @DISEASE$ may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.	false
+96c43b44a27dca897c53c3bf03a15eeab8a30ee0	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	has_symptom
+5fb69e3558a99fd53803c683622a6bbcf8311806	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+62d083bc9386c9ec56b39b6b5170b23453e500f7	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+6ccbcc66348e819fb28d8be9d0156d217e086ea2	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+0efa78019e5160431abb327070b1df6214f27311	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive @DISEASE$ characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+bd0c8ac8f5e67f6e1c827a92899dc7ca8f1d0ac5	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+071ba9157c93eab86a571b40a47c74e41ef464a5	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @DISEASE$ and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+e37eed52d0b93d548b82428bde0cc824ead99ede	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple @DISEASE$.	false
+092999376686f2283fae17d54c407af702b7b1c8	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+ae1ba27afbb08d58bcb98e5109298d91a2728a44	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple @DISEASE$.	false
+06ca76eac40d4100465520cf43c00d87a3ef15ba	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+7a01b371973e23e0c76ccc5b0ee6e72b4e020a84	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or @PHENOTYPICFEATURE$, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphism with prominent nasal root and/or overhanging upper lip.	has_symptom
+c5e316b496a1d055a4cc94f890d8686572588217	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital @DISEASE$ and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+e807eea2e1114ab0ca363d9481d5945b60950713	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging @DISEASE$ lip.	false
+c9a8acafc8ed07ab61264cd79414df6782e66153	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+87a568f240cd5a9264201651e0950fd077e4fdf9	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or @DISEASE$, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+09ed9c0b9a372fdeff398aab1bced1bb1fd48037	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+94809b8acbc88c813d02083263e8116caebd2dc7	Cerebro-oculo-facio-skeletal (COFS) syndrome is an @DISEASE$ characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+60396118c2d2da592f7e7fc3c990ecec105d3f28	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital @DISEASE$, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+75214ce1b1b122136388a9a2ad026d8e7fcb2c55	Congenital @PHENOTYPICFEATURE$ is usually associated with other abnormalities, and cases of @DISEASE$ are rarely reported.	has_symptom
+8793d4d63b0601b2c1396d2bfc9d0b4039478006	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @PHENOTYPICFEATURE$, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	has_symptom
+c67e015d7b03b93f837c3939707074867c4697f2	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+f27da63dacab31e6826dac52c69ec6743a28ce63	Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @DISEASE$, hypokalemia and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+4016a4b48ef8f99092a1d19af9ed0ca74a2dfb9d	Liddle's syndrome or pseudoaldosteronism is a rare @DISEASE$ mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and @PHENOTYPICFEATURE$, caused by excessive salt and water reabsorption in the distal nephron.	false
+c3e5fb8026025d5c75e26dfcd26e63ac1d27426d	Liddle's syndrome or pseudoaldosteronism is a rare @DISEASE$ mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @PHENOTYPICFEATURE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+4bf271200ca6deedd92c60a2f035c69e7ebeaf0a	@DISEASE$ or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, @PHENOTYPICFEATURE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+28cf825da0b7b92c8feb73021939b484b239d4a6	Liddle's syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset @DISEASE$, @PHENOTYPICFEATURE$ and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron.	false
+8af4bc0fd1ea153f71dd91c3830658508337e2df	@DISEASE$ (LS) is a familial disease characterized by early onset @PHENOTYPICFEATURE$ (HT).	has_symptom
+240481258a60e8beedb7119319f2c8a103b57a2d	@DISEASE$, a rare cause of hypokalemic @PHENOTYPICFEATURE$, is characterized by a renal tubular sodium channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	has_symptom
+7cf1e74bd8bce817b3684987aa7ed22e7d95d03a	Liddle's syndrome, a rare cause of @PHENOTYPICFEATURE$ @DISEASE$, is characterized by a renal tubular sodium channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+711dead8e06061342834184f52667197b9a0136d	Liddle's syndrome, a rare cause of @PHENOTYPICFEATURE$ hypertension, is characterized by a renal tubular @DISEASE$ channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+5691b0c04d50de9c2c1708e5c0169a08fc841459	@DISEASE$, a rare cause of @PHENOTYPICFEATURE$ hypertension, is characterized by a renal tubular sodium channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+292cb2b6254e7992326ca4511d6a28abf1734640	@DISEASE$ is a rare autosomal dominant disorder characterised by early onset arterial @PHENOTYPICFEATURE$ and hypokalaemic metabolic alkalosis.	has_symptom
+76fdbce0344a18c8f1ca4311c8aa566313514100	Pseudohyperaldosteronism, or @DISEASE$, is a rare, autosomal dominant condition characterized by early-onset @PHENOTYPICFEATURE$, often associated with hypokalemia and metabolic alkalosis.	has_symptom
+56bd2bfbdbdb7d97f596bf887b14ccab37f79e09	@DISEASE$ is a rare form of autosomal dominant @PHENOTYPICFEATURE$ with early penetrance and cardiovascular sequelae.	has_symptom
+94dfe7f21a21b6ad32c56871cfcaba7638154876	@DISEASE$ (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset @PHENOTYPICFEATURE$ and hypokalemia.	has_symptom
+733471de238bb6b5070559b8b7277440c9dbcb13	Liddle syndrome (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ee10defb52ea2856b995899d0991e219f011b17d	@DISEASE$ (LS), a monogenetic autosomal dominant disorder, is mainly characterized by early-onset hypertension and @PHENOTYPICFEATURE$.	false
+31fb46fdf1534c7d4df380f962ebc3287941f519	@DISEASE$ (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young hypokalemic @PHENOTYPICFEATURE$.	has_symptom
+ab2116da007871838a9df596f0365ce77f5c8d62	Liddle's syndrome (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young @PHENOTYPICFEATURE$ @DISEASE$.	false
+ad0854c6c0cc3e7761084434e082c5938aad98e3	@DISEASE$ (LS) is a monogenic form of hypertension simulating a mineralocorticoid excess, and is currently suspected in young @PHENOTYPICFEATURE$ hypertensives.	false
+38b9ade0708bfdeeff758cf004b0dd2b3b82ccbf	All reported mutations in @DISEASE$ are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus @PHENOTYPICFEATURE$ and hypokalemia are caused.	has_symptom
+fe98bfab9ceb9ec5e72ba21794b3e9ed8bd1646b	All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus @DISEASE$ and @PHENOTYPICFEATURE$ are caused.	false
+d3ed6c2e94b6f633fd5e252623c3efeb320c0604	All reported mutations in @DISEASE$ are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the beta or gamma subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and @PHENOTYPICFEATURE$ are caused.	false
+12e12ff64da4b23ce73ddec24d6c61b1a5432128	@DISEASE$ (SCA7) is associated with progressive @PHENOTYPICFEATURE$, dominant transmission, and marked anticipation.	has_symptom
+5378e479d1b4c0a78cf2d8a83e1c01798eabe974	@DISEASE$ (SCA7) is an autosomal dominant polyglutamine disorder presenting with progressive cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+ddcfda7648ecf8bbd65a0edbed9724d0b3e4ed64	@DISEASE$ (SCA7) is a rare autosomal dominant neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum, brainstem, and retina, leading to cerebellar ataxia and @PHENOTYPICFEATURE$ as major symptoms.	has_symptom
+3a9bf2533d3632b9aca69816b191202cd25179d6	Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum, brainstem, and retina, leading to @PHENOTYPICFEATURE$ and @DISEASE$ as major symptoms.	false
+915c33f71d33cd497360afc429d440c01f0e91bf	@DISEASE$ (SCA7) is a rare autosomal dominant neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum, brainstem, and retina, leading to @PHENOTYPICFEATURE$ and blindness as major symptoms.	false
+79c7f7dc800a83261e8f85a3115277d47c8032bd	@DISEASE$ (SCA7, OMIM # 164500) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia and @PHENOTYPICFEATURE$.	has_symptom
+3abd79c388b304b20ac685c2d5314db823f898e4	@DISEASE$ (SCA7) is a neurodegenerative disorder characterized by progressive cerebellar ataxia associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and @PHENOTYPICFEATURE$.	has_symptom
+dcc7194acf42852eabbadef75a04d701e7b01614	Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and @DISEASE$.	false
+2836167334f3d045d4199d4742c03856b79f2728	Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ associated with @DISEASE$ that leads, in the majority of patients, to loss of autonomy and blindness.	false
+75a381fb7fc6f4ba27cf7b992279c3c091ec8df5	@DISEASE$ (SCA7) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and blindness.	false
+34e98d08090bd2b6ed076d35dfdf7d0bb799e82f	Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative @DISEASE$ characterized by @PHENOTYPICFEATURE$ associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and blindness.	false
+fedeecca1d387a34d5938c82c218aac63044cff3	More women with @DISEASE$ are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: @PHENOTYPICFEATURE$, microcephaly, growth retardation, developmental delay and congenital heart disease.	has_symptom
+3f1d3306d7db5382a82d41be84d5350c07bdaaf4	More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, microcephaly, @PHENOTYPICFEATURE$, developmental delay and @DISEASE$.	false
+06be973816ffb319a4be60466cfa3f4f5438920b	More women with @DISEASE$ are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, @PHENOTYPICFEATURE$, growth retardation, developmental delay and congenital heart disease.	false
+36e7ad27c9113941f75ca6c0d6e228c79d5c69de	More women with @DISEASE$ are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, microcephaly, @PHENOTYPICFEATURE$, developmental delay and congenital heart disease.	false
+40f7957f6d3c58cb156233aaa5bec84c006df499	More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: @DISEASE$, @PHENOTYPICFEATURE$, growth retardation, developmental delay and congenital heart disease.	false
+fea95640ce6e356970efcfc78a46b6aa37c85534	More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, developmental delay and congenital heart disease.	false
+10047325586873239c467df1e5790f08cf99cff9	More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, @PHENOTYPICFEATURE$, growth retardation, developmental delay and @DISEASE$.	false
+a619d39af494cda4ada0c910ff864fef6eb9409f	Gastrointestinal manifestations in primary or @DISEASE$ include @PHENOTYPICFEATURE$, diarrhea, constipation, malabsorption, obstruction, motility disturbance, intestinal infarction, perforation, and hemorrhage; however, gastrointestinal tract involvement is asymptomatic in most instances.	has_symptom
+58c2666b82c914ad0dbf72ed84d1be0174e0253f	The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, @PHENOTYPICFEATURE$, and eventual @DISEASE$ involving the kidneys, digestive tract, and thyroid.	has_symptom
+c6f2f36f2beb380fc8fe4236cce72b32ac04bf95	@DISEASE$ is an early onset autosomal dominant neurodegenerative disorder linked to a genetic defect in the BRI2 gene and clinically characterized by dementia and @PHENOTYPICFEATURE$.	has_symptom
+525c65f5510fa569e3caf51f5afde400547890f4	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cataracts, hearing impairment, @PHENOTYPICFEATURE$ and dementia.	has_symptom
+b287a40008ce5a18d18ae1aa741e4343a853d8bb	Familial Danish dementia (FDD) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of @PHENOTYPICFEATURE$, hearing impairment, @DISEASE$ and dementia.	false
+5c1948761d76adddb8adf40eab1b3b2ebdf08793	Familial Danish dementia (FDD) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cataracts, @PHENOTYPICFEATURE$, @DISEASE$ and dementia.	false
+50efa06d5f6ebd7d4ec766e69eefe7c7fdcd6044	Familial Danish dementia (FDD) is an autosomal dominant @DISEASE$ clinically characterized by the presence of @PHENOTYPICFEATURE$, hearing impairment, cerebellar ataxia and dementia.	false
+c95a54285ba396e225acdbbf5ae723399d2a4a19	Familial Danish dementia (FDD) is an autosomal dominant @DISEASE$ clinically characterized by the presence of cataracts, @PHENOTYPICFEATURE$, cerebellar ataxia and dementia.	false
+f91caa047a0045d7d50fbb7d1edc8b2456187658	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of @PHENOTYPICFEATURE$, hearing impairment, cerebellar ataxia and dementia.	false
+66f20b0cf1e18efe90ebd9b5d0c38c1a3b6b0973	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cataracts, @PHENOTYPICFEATURE$, cerebellar ataxia and dementia.	false
+b7d17bf5866e0c0331aaa6d9f6187fcf76fa9876	@DISEASE$ is clinically characterized by loss of vision, hearing impairment, @PHENOTYPICFEATURE$ and dementia.	has_symptom
+52a2130e056d1eb2a49fcdba4dc44439a89c8cbf	FDD is clinically characterized by loss of vision, @PHENOTYPICFEATURE$, @DISEASE$ and dementia.	false
+535243a05ac134e6fd9edf9e100617baf03c3293	@DISEASE$ is clinically characterized by loss of vision, @PHENOTYPICFEATURE$, cerebellar ataxia and dementia.	false
+41696acab5902b1fac6a3cb54304410e13f7e47e	The other patients manifested @DISEASE$, isolated @PHENOTYPICFEATURE$, or a predominant behavioral variant of frontotemporal dementia.	has_symptom
+dfb3e70a70e2d62d7991e927c84e473e7097876b	We report a case of a 24-year-old Caucasian woman presenting with fatigue, @PHENOTYPICFEATURE$, a cardiac murmur, anaemia and biochemical markers of inflammation due to @DISEASE$ (TA), a vasculitis of the aorta and large vessels that typically affects young women.	has_symptom
+b15b9270c0588712b803c83dfa45414c14a9ee8b	The patient presented with @PHENOTYPICFEATURE$, cervical lymphadenopathy, and abnormal anti-Epstein-Barr virus (EBV) antibody titers, suggestive of EBV-related diseases including chronic active EBV infection, @DISEASE$, or nasopharyngeal carcinoma.	has_symptom
+bcb2e37e8bb7e9effa5828dd6a8baaa9f02385e6	A difference of less than 0.1?log?MAR was defined as criterion to judge the outcomes of the objective tests as equivalent for both types of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+c7762bb9ff383f839c292dac02efd065f9dca540	@DISEASE$ (ECD) is a rare form of systemic histiocytosis, typically presenting with striking osseous involvement characterized by bilateral @PHENOTYPICFEATURE$ and involvement of organs such as the lung, pituitary gland, heart, and brain.	has_symptom
+1c92defc214739ee3f4fcee73127855248454caf	Here we describe the case of a patient with all three components of @DISEASE$ diagnosed in the neonatal period who presented with cerebral infarction, @PHENOTYPICFEATURE$, and renal anomalies.	has_symptom
+5dbdcbd55164d43f74b2d152f163666ded9c4c6a	Here we describe the case of a patient with all three components of HDR syndrome diagnosed in the neonatal period who presented with cerebral infarction, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1ceea2aa3e0ef1bdf9e5b9e2bd046fb9da628cf7	Here we describe the case of a patient with all three components of @DISEASE$ diagnosed in the neonatal period who presented with cerebral infarction, hypocalcemia, and @PHENOTYPICFEATURE$.	false
+5b97c78c919faff62df8ecbacebb9e7f6fbf912b	Diagnosis of @DISEASE$ is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including @PHENOTYPICFEATURE$ induced seizures and deafness.	has_symptom
+120b19be4d1b9812e128f028e818e77b8a2be95c	Diagnosis of @DISEASE$ is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced @PHENOTYPICFEATURE$ and deafness.	false
+13343f14d3d76c70a85af151bb9a11d229bd5dcb	Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including @DISEASE$ induced @PHENOTYPICFEATURE$ and deafness.	false
+1878689acbb6938db6ca4e0369da7c6b25861a5a	Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including @DISEASE$ induced seizures and @PHENOTYPICFEATURE$.	false
+22dac68ec50d4c4d983407126d557ff356a19f7e	Diagnosis of @DISEASE$ is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and @PHENOTYPICFEATURE$.	false
+e1d1cadb7ddc31ece12f101589afd8f1723b9b91	Endoscopic third ventriculostomy for @PHENOTYPICFEATURE$ in @DISEASE$: a case report and review of the literature.	has_symptom
+b9cec86fb1d1bbd6aef60044ad4589fdc18e6c80	We herein report a case of @DISEASE$ with @PHENOTYPICFEATURE$ that was successfully treated with endoscopic third ventriculostomy (ETV).	has_symptom
+24efdf8d80f3801f3b86c5be978f29098b1c3f86	Endoscopic third ventriculostomy for the treatment of @DISEASE$-related @PHENOTYPICFEATURE$: a case-based update.	has_symptom
+9e153c21ffc6400b9f1a2da70d480a263d37479a	ETV should be considered the treatment of choice for @PHENOTYPICFEATURE$ in osteopetrosis, as it avoids the characteristic shunt complications that can occur in patients with @DISEASE$.	has_symptom
+ded9ab7a94cb1725c6cdf01fb3e7f4ce82b2c65e	Congenital @DISEASE$: an unusual cause of @PHENOTYPICFEATURE$.	has_symptom
+8f3fa207d719b12a916b103605d0c81777fe068e	We successfully treated a 9-month-old girl with @DISEASE$ and symptomatic @PHENOTYPICFEATURE$ with an endoscopic third ventriculostomy (ETV).	has_symptom
+c338207553344dd995bb482f85e8c1cb0e5aa82f	Here we report a rare case of malignant @DISEASE$ presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and @PHENOTYPICFEATURE$ with resultant optic atrophy.	has_symptom
+28b62255ec73363c14640ecfc48a50664ff233aa	Here we report a rare case of @DISEASE$ osteopetrosis presented with evidence of @PHENOTYPICFEATURE$, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.	false
+91cc74db025db19a08b8f2f2cc03d557b4dfc31a	Here we report a rare case of malignant osteopetrosis presented with evidence of @PHENOTYPICFEATURE$, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and @DISEASE$ with resultant optic atrophy.	false
+44ddf5e88c5bc0bd3da5d2e341d916bedfaf54bb	Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, @DISEASE$, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant @PHENOTYPICFEATURE$.	false
+8f41475f4dabd9a0e63944ffe4c423cf253614a1	Here we report a rare case of malignant @DISEASE$ presented with evidence of @PHENOTYPICFEATURE$, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.	false
+ec9f4bd0c8310b8f41b40eb1229a2d7337ef03dd	Here we report a rare case of malignant osteopetrosis presented with evidence of @PHENOTYPICFEATURE$, @DISEASE$, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.	false
+31d1279d87f119bff4fa0e44dab78bd638d29540	Here we report a rare case of malignant osteopetrosis presented with evidence of @PHENOTYPICFEATURE$, anemia, @DISEASE$, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.	false
+a0b3d9a632e34d71c477a011668de2a2564ceee4	Here we report a rare case of malignant @DISEASE$ presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant @PHENOTYPICFEATURE$.	false
+92931583390fb86f9270113d87f1abc11220e5a5	Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and @DISEASE$ with resultant @PHENOTYPICFEATURE$.	false
+39b98caaa09b576068b425410da704a80fee9ef1	Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, @DISEASE$, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant @PHENOTYPICFEATURE$.	false
+d325c05ebdc84890e7077fa826cfba294ffb8824	Here we report a rare case of @DISEASE$ osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant @PHENOTYPICFEATURE$.	false
+3ee8c2d22d369797110c0c5fd8b56d07b134b01e	The severe autosomal recessive form of @DISEASE$ is very rare and characterised by abnormalities in skeletal bones, delayed psychomotor development, optic and facial nerve dysfunction, @PHENOTYPICFEATURE$, anaemia, haematologic and bleeding disorder, and a diversity of other manifestation.	has_symptom
+985ed022a59138d0e0d1a170c087ba7e49f28d95	We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild @PHENOTYPICFEATURE$, @DISEASE$ syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects.	has_symptom
+c5182d149b61acd947a3ea1f6f377b9e7ef022a2	@PHENOTYPICFEATURE$ in the @DISEASE$ (progressive supranuclear palsy).	has_symptom
+817d20139a859b26aeca3f0311f82b23461e0672	Microvillus inclusion disease (@DISEASE$) is a severe form of neonatal @PHENOTYPICFEATURE$, caused mainly by mutations in MYO5B.	has_symptom
+52d1f0f12f615c44ac681b967ab3be94550fd0fb	We conducted a prospective cohort analysis using data on 3155 elderly adults free from prevalent dementia from the US population-based Cardiovascular Health Study (@DISEASE$) with adjudicated incident all-cause dementia, Alzheimer disease (AD), vascular dementia (VaD), and mixed @PHENOTYPICFEATURE$.	has_symptom
+e51897e6b29043a3dc0d6c7c6905657a65cf6546	TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+084db8dcab65eca4f12d339e54d6c1c37c8ef899	Cousin syndrome, also called @DISEASE$ (OMIM 260660), is characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphism, and multiple skeletal anomalies.	has_symptom
+c90fe1eb87c47f11fdf2c3c8f0c3619aec488756	@DISEASE$, also called pelviscapular dysplasia (OMIM 260660), is characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphism, and multiple skeletal anomalies.	has_symptom
+ad43d78ce9315c12f7ed6fea95336cf3538563f4	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+d3b849893c51900cc4777038c257d19a4615272c	@DISEASE$, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+96556bc050edbdc88f60b89bae781ae800358fae	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0630b1dcbe9d391e5c1662eb1c8563df184a9f89	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+f07af6776b8376bb1e95f1cb088e699b76b91222	Mabry syndrome, hyperphosphatasia mental retardation @DISEASE$ (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+c0f06525f202c62b48744e098e4922c59c6cd06f	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and @DISEASE$.	false
+9bc3eed544773cad51b4876d97af69ab4b3f0892	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, intellectual disability, and seizures.	false
+109224cebdcf18253f356dcec5d509ff33e4ec55	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an @DISEASE$ characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	false
+4b4562e1ec2169841af12eba086db6f4517a8e03	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an @DISEASE$ characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+31acc8a64b2edd9550108b73ccf006141ec25b2b	@DISEASE$, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	false
+28defbbe19daefe9e2963e6e61e12a902e200339	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ @DISEASE$ (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (ALP), severe developmental delay, intellectual disability, and seizures.	false
+fd1cac9a4afb5be6b5c16233d7e6e9dad6428e5b	In the present study, the effect of gabapentin (GBP) on @PHENOTYPICFEATURE$ score and memory is evaluated when it is given alone and in combination with some antidepressants, such as sertraline (SERTR) and alprazolam (@DISEASE$).	has_symptom
+d9112ca74a724d05621b190afd5d84451adcdcc2	Because of continued @PHENOTYPICFEATURE$ and low serum phenobarbital levels, the dose was increased until significant elevations of aspartate aminotransferase (AST) and alkaline phosphatase (@DISEASE$) were detected.	has_symptom
+db6e27dcdb63870aeb360a7b30a990ba0b9f419b	This article describes a girl with @PHENOTYPICFEATURE$, probably due to a perinatal complication, who had typical absence seizures with characteristic electroencephalographic findings of @DISEASE$, including normal background activity.	has_symptom
+7a3949bb8eaf429d3a7ebd1437244289aa7ab826	This article describes a girl with mental retardation, probably due to a perinatal complication, who had @PHENOTYPICFEATURE$ with characteristic electroencephalographic findings of @DISEASE$, including normal background activity.	false
+6430860b3005ba40b415f31229250a2d7d1108b9	This article describes a girl with @DISEASE$, probably due to a perinatal complication, who had @PHENOTYPICFEATURE$ with characteristic electroencephalographic findings of childhood absence epilepsy, including normal background activity.	false
+08a0ecd87d1fb4747a23d766b2ab01f3728c98b8	@DISEASE$ is an autosomal dominant axonal form of @PHENOTYPICFEATURE$ caused by mutations in the mitofusin 2 gene.	has_symptom
+b289fd3589281fb729f880b64e0bd5518a0ecc4e	@DISEASE$ (CMT2A) is an autosomal dominant axonal form of @PHENOTYPICFEATURE$ caused by mutations in the mitofusin 2 gene (MFN2), which encodes a mitochondrial outer membrane protein that promotes mitochondrial fusion.	has_symptom
+c33391848884aa92973eec0695a464928e8b69c4	The patient also had characteristic features of @DISEASE$, such as numerous @PHENOTYPICFEATURE$, caf?-au-lait spots, Lisch nodules in the iris and spinal scoliosis.	has_symptom
+f47a7252f72168ab890bff9f78fef4f35a1aaab0	A 28 year old male had right axillary freckling, a few cafe-aulait macules and numerous freckles over the right upper half of his body involving the -scapular region, shoulder, chest wall, upper arm and proximal half of the forearm Numerous, bilateral @PHENOTYPICFEATURE$ which could possibly be dismissed clinically as subcutaneous nodules of @DISEASE$, proved to be angiolipomas histopathologically.	has_symptom
+35121176f3ecdc3f10a93a2b79cbab0690820319	The objective of this paper is to discuss the unusual histological findings seen in two cases of neurofibromas associated with @DISEASE$ Both cases presented with multiple @PHENOTYPICFEATURE$.	has_symptom
+57cb06ae909b580c087a6369ca5078672fadfa41	Based on the presence of other manifestations, such as caf?-au-lait spots and @PHENOTYPICFEATURE$, he had been diagnosed with @DISEASE$, the same as his father, sister, and daughter.	has_symptom
+6655272fad042c3a4e5c80d02cf4e64560590573	The general examination focuses especially on cutaneous abnormalities such as caf? au lait spots and @PHENOTYPICFEATURE$ in @DISEASE$ (NF1), a hemangioma that often involves the cutaneous portion of the eyelid.	has_symptom
+8c0cfb6621576a855d09ab0e0d9635f37cc1e6ec	It was concluded that @PHENOTYPICFEATURE$ should be included as one of the main pathological findings in @DISEASE$.	has_symptom
+d0fcf4373bd3e2150d08e58f603bdb4e138b1d68	Amyotrophic @DISEASE$ (ACA) is a hereditary disease characterized by adult onset, hyperkinesias (with tongue and/or lip biting), @PHENOTYPICFEATURE$, acanthocytosis and normal blood lipoprotein pattern.	has_symptom
+3a55869faa0c287e2b4f80ecb971eb7f82071f28	@PHENOTYPICFEATURE$ and low density of large myelinated fibres of sural nerve in @DISEASE$.	has_symptom
+e843716e39991ef6a3652396f25a61c7f23a32ae	Amyotrophic @DISEASE$ is a rare disease of adult onset characterized by dyskinesias, @PHENOTYPICFEATURE$, erythrocytary acanthocytosis with normal serum lipoproteins and elevated levels of serum CPK.	has_symptom
+aa8bb51b21ab0d124b7997a67461930469afb5e6	@PHENOTYPICFEATURE$ during pregnancy was recorded in 15 pregnancies involving 13 @DISEASE$ patients (3.0 %) and none of the controls.	has_symptom
+83d2c4f98306acecac926b4a0e1b4913d1c56502	The most common inherited form of hydrocephalus, X linked hydrocephalus (@DISEASE$), is characterised by @PHENOTYPICFEATURE$, adducted thumbs, and spastic paraplegia.	has_symptom
+9dbe45b0b94d4f29b254331751356e24bd4fba6e	The most common inherited form of hydrocephalus, @DISEASE$ (HSAS), is characterised by @PHENOTYPICFEATURE$, adducted thumbs, and spastic paraplegia.	has_symptom
+83bae29e152d2d0ca1b5093a63cb0818b461ae1e	The most common inherited form of @PHENOTYPICFEATURE$, @DISEASE$ (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia.	false
+636315448b5972e1d79446359b97dd78d917d451	The most common inherited form of @PHENOTYPICFEATURE$, X linked hydrocephalus (HSAS), is characterised by @DISEASE$, adducted thumbs, and spastic paraplegia.	false
+3fb4dd39696d68fd28e8112c25af79f4d6a3ab16	The most common inherited form of @PHENOTYPICFEATURE$, X linked hydrocephalus (HSAS), is characterised by mental retardation, adducted thumbs, and spastic @DISEASE$.	false
+f0864fd2770c433e9daeff0ebaede83286de26b6	The most common inherited form of @PHENOTYPICFEATURE$, X linked hydrocephalus (@DISEASE$), is characterised by mental retardation, adducted thumbs, and spastic paraplegia.	false
+ed8c173d2f6460bb9a3f9c1470a4cb164297619d	X-linked hydrocephalus (@DISEASE$) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	has_symptom
+059eee9da0151dfe46aaff4f336986d5b4eb8626	X-linked @PHENOTYPICFEATURE$ (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, @DISEASE$, clasped thumbs, and spastic paraparesis.	false
+fe9839f7cb993c01f303f0080e8226f55fd639e3	X-linked hydrocephalus (HSAS) is the most common form of inherited @PHENOTYPICFEATURE$ characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, @DISEASE$, clasped thumbs, and spastic paraparesis.	false
+e146a030ddfae5869aae9dcfbb66a8fae90c9261	X-linked @PHENOTYPICFEATURE$ (@DISEASE$) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis.	false
+40096ba46a7ec176cff0e5e543df94223812bf5a	X-linked hydrocephalus (@DISEASE$) is the most common form of inherited hydrocephalus characterized by @PHENOTYPICFEATURE$ due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis.	false
+fb4618cecef2672c7712b6e11f1089e19a4c0746	X-linked hydrocephalus (@DISEASE$) is the most common form of inherited @PHENOTYPICFEATURE$ characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis.	false
+aab3bee78b4ba8cc907898a34027626755896d91	X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by @PHENOTYPICFEATURE$ due to stenosis of the aqueduct of Sylvius, @DISEASE$, clasped thumbs, and spastic paraparesis.	false
+0ef840dc4937e9e21c296629d7250d1d1c5eac8d	X-linked recessive hydrocephalus (@DISEASE$) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, spastic paraparesis, and clasped thumbs.	has_symptom
+34c20960682e411f5c56338705d4f30cba6b1353	X-linked recessive hydrocephalus (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of @PHENOTYPICFEATURE$, stenosis of the aqueduct of Sylvius, @DISEASE$, spastic paraparesis, and clasped thumbs.	false
+845b17ef388109d8fa54f502d3b2b9e51bbd85e4	X-linked recessive @PHENOTYPICFEATURE$ (@DISEASE$) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs.	false
+d98268fcbc24179cb459ccc8b709de1253e6d3a7	X-linked recessive hydrocephalus (@DISEASE$) occurs at a frequency of approximately 1 per 30,000 male births and consists of @PHENOTYPICFEATURE$, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs.	false
+67fd0549c8e7c2d6a0bdcbdee3882cc8e0d8afe6	X-linked recessive @PHENOTYPICFEATURE$ (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, @DISEASE$, spastic paraparesis, and clasped thumbs.	false
+6016497ea78fa815251e118b8dc2ad68aaa0f9f1	Mutations in the L1CAM gene produce a phenotype characterised by @DISEASE$, @PHENOTYPICFEATURE$, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum.	has_symptom
+51695a65db564636d4895da671b65cb84140e62e	Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, @DISEASE$, spastic paraplegia, adducted thumbs, and @PHENOTYPICFEATURE$.	false
+ca5730ed9cffd0c9c00c256b1ce15865cf265695	Mutations in the L1CAM gene produce a phenotype characterised by @DISEASE$, mental retardation, spastic paraplegia, adducted thumbs, and @PHENOTYPICFEATURE$.	false
+3dbe41c8507fff47e74f6e16696843bec62338d0	Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, mental retardation, spastic @DISEASE$, adducted thumbs, and @PHENOTYPICFEATURE$.	false
+44a1b26b9c2a361624d23c75a2ffd2f8fd162d7a	Recently, two mutations (R184Q and H210Q) within the Ig2 region of the human L1 gene have been shown to be responsible for @DISEASE$ and the related MASA (@PHENOTYPICFEATURE$, aphasia, shuffling gait, and adducted thumbs) syndrome.	has_symptom
+5e6dfaedc87256d58233c5832ffbaf0b7aa277ed	MASA (@PHENOTYPICFEATURE$, aphasia, spastic paraplegia, adducted thumbs) syndrome and @DISEASE$.	has_symptom
+fe5415b50aa1586934925bb6004d48f0e4d11613	Mutations in L1CAM, the gene encoding the transmembrane multifunctional neuronal adhesion molecule L1, are associated with neurodevelopmental disorders including @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+df92a552c2fe79763d495cdf18ac9bea068c4f66	Mutations in L1CAM are known to cause several clinically overlapping X linked @PHENOTYPICFEATURE$ conditions: X linked hydrocephalus (@DISEASE$), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC).	has_symptom
+59e454935b239a246331d569bebcbd4d616e9aea	Mutations in L1CAM are known to cause several clinically overlapping X linked mental retardation conditions: @DISEASE$ (HSAS), MASA syndrome (@PHENOTYPICFEATURE$, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC).	has_symptom
+1c5cdfdfb387b1d4b0ed1121035791e92e715fba	Mutations in L1CAM are known to cause several clinically overlapping X linked @PHENOTYPICFEATURE$ conditions: @DISEASE$ (HSAS), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC).	has_symptom
+a8b8948d266609eea1f7645c58eae949672bdcac	Mutations in L1CAM are known to cause several clinically overlapping X linked mental retardation conditions: X linked hydrocephalus (@DISEASE$), MASA syndrome (@PHENOTYPICFEATURE$, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC).	has_symptom
+1ac0d62335f75025d191e35e85943f802a2a89f8	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and @PHENOTYPICFEATURE$.	has_symptom
+efa406e0f2a57391968b8c7593f1da9b73e4b072	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, @PHENOTYPICFEATURE$ and mental retardation.	false
+6254de94561c35fea3910b8d5f32a7b62c59ff6e	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and @DISEASE$.	false
+3a57681ef12ffee394a5a945d1ca5694785eeb72	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+58ea9dfcb1353f0e285e2fc8c376182d550b182b	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, agenesis of the corpus callosum and @DISEASE$.	false
+6697a0ae55c9455cbe5131543283096a908ded56	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation.	false
+510f320334efa874a3db2da510d486298ce5db5c	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and @DISEASE$.	false
+5f63ac9227afb05a5fdc1b94f7856c76e2822928	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+e64d2908a3e82cb575f803c9db92b6368d40c1e2	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6b1514d72ebde688fb6c030e956a4c38c28bc78f	Clinical symptoms of @DISEASE$ include hydrocephalus, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	has_symptom
+cb2c40000fd9a2041cf4bfabda476c8a8c4c54f1	Clinical symptoms of HSAS include @PHENOTYPICFEATURE$, @DISEASE$, clasped thumbs, and spastic paraparesis.	false
+4f5095f1f7f7c7c12a0b57762905ba90d1329c93	Clinical symptoms of @DISEASE$ include @PHENOTYPICFEATURE$, mental retardation, clasped thumbs, and spastic paraparesis.	false
+910bad004ff23d2ce1cb15dba0f5f0871898c67f	To examine the relationship between disordered sleep and growth hormone release we studied a 9 year old male with @DISEASE$, growth failure (3 cm/year) and @PHENOTYPICFEATURE$.	has_symptom
+ab59f3e3c23ad088e47cae67de15b09f463c9edb	These patients had been given a diagnosis of either @DISEASE$ (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, @PHENOTYPICFEATURE$, and kyphoscoliosis developing in late childhood.	has_symptom
+03fe5f2a3b3920033b5fa25b159a49a46ae84395	These patients had been given a diagnosis of either @DISEASE$ (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, @PHENOTYPICFEATURE$, short stature, and kyphoscoliosis developing in late childhood.	false
+883d1c7305dc21e8d264e977ab778a34a8acc81d	These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, @PHENOTYPICFEATURE$, @DISEASE$, and kyphoscoliosis developing in late childhood.	false
+014ff23d24c3df36271f980eb095683febda6fd8	These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal @DISEASE$ (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, @PHENOTYPICFEATURE$, short stature, and kyphoscoliosis developing in late childhood.	false
+1129eb2e8a599b2e0a8d77162abbbf3f29448181	Obstetric anesthetic management of a parturient with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6b7a564aeff8e4fc6145ebcdc0fed3dbf76698de	In conclusion, patients with @DISEASE$ presented a high incidence of @PHENOTYPICFEATURE$ and, in most cases, the same individual presented more than one dental anomaly.	has_symptom
+0f9befa23ba891ba125623e18b8e229244ef8bbd	In conclusion, patients with @DISEASE$ presented a high incidence of dental anomalies and, in most cases, the same individual presented more than one @PHENOTYPICFEATURE$.	has_symptom
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+3b278a5e31eb87c51384ed56406eef4144221663	The purpose of the present study was to evaluate the incidence of @PHENOTYPICFEATURE$ in Brazilian patients with @DISEASE$.	has_symptom
+59075cc0a33f4059157e59e991f34677718c746c	An 83-year-old @DISEASE$ patient with @PHENOTYPICFEATURE$ and a high risk for thromboembolic and cardiac events who had initially been treated successfully with steroids and substitution of recombinant B-domain-deleted porcine FVIII developed severe bleeding complications and a secondary increase in inhibitor titres after 4 weeks of treatment.	has_symptom
+d3acd73856ec3446dd6b04be6aa16fde8732efac	Many studies have demonstrated gaps in adherence to American College of Cardiology (ACC)/American Heart Association (@DISEASE$) guidelines among patients with acute decompensated @PHENOTYPICFEATURE$ (ADHF).	has_symptom
+44edcd26c3cb3ebb58474fc2897a7a2a8ecb9e64	A 10-year-old patient with severe @DISEASE$ (AIHA) presented with @PHENOTYPICFEATURE$.	has_symptom
+8b6ba24c3b2dd0643139efb4897fed9a4893f204	Current heart failure therapeutic guidelines are based on a new classification of the progression of the syndrome of @PHENOTYPICFEATURE$ (CHF) that was proposed by ad hoc committees of the American College of Cardiology (ACC) and the American Heart Association (@DISEASE$).	has_symptom
+651f3ff7d163c050186493ed16ee421fa5853172	Patients with lesions in small vessels were older and presented more frequently with female gender, diabetes mellitus, @PHENOTYPICFEATURE$, peripheral vascular, multivessel coronary disease and American Heart Association/American College of Cardiology (@DISEASE$/ACC) lesion type C (p < or = 0.01, each).	has_symptom
+f4c6001b14e7631a766521fa0d69d48a66b3955d	A six-year-old girl who presented to our clinic with @PHENOTYPICFEATURE$ was diagnosed as @DISEASE$ based upon characteristic clinical and radiological findings.	has_symptom
+89ec2c9390b459396bbdda11df87ba70a792c7e5	The @DISEASE$ is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and @PHENOTYPICFEATURE$.	has_symptom
+610393ae2fddb18af99779c43f25348067affa5e	The @DISEASE$ is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, @PHENOTYPICFEATURE$, full checks and small mandible), skeletal defects and short stature.	false
+dc755f9685d0d7d36869395c7528737f38508a74	The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific @DISEASE$ features (small facial bones, exophthalmos, @PHENOTYPICFEATURE$, full checks and small mandible), skeletal defects and short stature.	false
+ca1f8c2c63ce6d533b4f0654723cef3fb532d143	The Melnick-Needles syndrome is a rare @DISEASE$ characterised by specific facial features (small facial bones, exophthalmos, @PHENOTYPICFEATURE$, full checks and small mandible), skeletal defects and short stature.	false
+9ed7ad5a2bf8b47bf259b692a1b86136aca2b523	The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, @PHENOTYPICFEATURE$, full checks and small mandible), skeletal defects and @DISEASE$.	false
+0b78b5b587db8309bbabd246284222ca930ad5a5	@DISEASE$ is a rare disorder characterized by @PHENOTYPICFEATURE$, prominent forehead, bilateral exophthalmos, fullness of the cheeks and retrognathia.	has_symptom
+f6d9510c47ec54df940f53aff9c112f5c55f0ae3	Cardiac malformations, @PHENOTYPICFEATURE$, and @DISEASE$ are the most common manifestations.	has_symptom
+3f8fc3343fd5f55feb8a750ba7667bb783b0ad38	@DISEASE$ is characterized by craniofacial dysmorphism, @PHENOTYPICFEATURE$, interdigital webbing and shawl scrotum.	has_symptom
+ff6b83dbd5afac0856ee2ba83773e911777bbbe0	The recently described @DISEASE$ is characterized by characteristic dysmorphic features, @PHENOTYPICFEATURE$ and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown.	has_symptom
+4c4e45354d7a4aefcc08e3427de60e0ddb8d9692	Patients with @DISEASE$ show @PHENOTYPICFEATURE$, seizures, and distinctive features.	has_symptom
+c1d19c2e35b34970901f4fd52b20ac4f9cec15fa	Patients with @DISEASE$ show intellectual disability, @PHENOTYPICFEATURE$, and distinctive features.	false
+4589cee151ee5a342a6ccacd5abef1f11155691c	Patients with 1q41q42 microdeletion syndrome show @DISEASE$, @PHENOTYPICFEATURE$, and distinctive features.	false
+3d2780edae3fb0fb65abd0959ec793f5dcc2af96	To examine the association between maternal @PHENOTYPICFEATURE$ on left ventricular (LV) size and recovery in women with @DISEASE$ (PPCM).	has_symptom
+d3e94f72a1ab91d313fa063f20e3419258569b5c	It depends on the stage of pregnancy and comorbidities: @PHENOTYPICFEATURE$, preeclampsia, pre-existing cardiomyopathies or @DISEASE$.	has_symptom
+27c5a7b4dceddde88de93bc94f0d7f1db7b566b5	Moreover, disturbance of the mechanisms of physiological angiogenesis has a role in pathogenesis of some diseases in the form of overproliferation of blood vessels such as cancers, psoriasis, arthritis, retinopathies, @PHENOTYPICFEATURE$, asthma, and atherosclerosis or impaired angiogenesis participates in diseases such as heart and brain ischemia, neurodegeneration, hypertension, osteoporosis, respiratory distress, preeclampsia, endometriosis, @DISEASE$, and ovarian hyperstimulation syndrome.	has_symptom
+25c0d7509bf11f8667c4a836cbee991a91041620	In five of the seven cases, @PHENOTYPICFEATURE$ appeared in combination with tachycardia and hypercapnia, adhering to the clinical triad of @DISEASE$.	has_symptom
+a535887a6edb9b0c08c651d20f14d50cb025b030	@DISEASE$ is a condition characterized by @PHENOTYPICFEATURE$ and often by skeletal muscle rigidity usually triggered by the administration of general anesthetic agents.	has_symptom
+2a9b48d1151475b4ba93874fb5ac4cb2e398e1d2	There are several incomplete and abortive forms, and the clinicians must be aware of the possibility of @DISEASE$, and recognize the first signs of the @PHENOTYPICFEATURE$ crisis hyperthermia, hypermetabolism and muscular rigidity.	has_symptom
+e5b9a72d3ebbd914561245812678af5959e3d192	There are several incomplete and abortive forms, and the clinicians must be aware of the possibility of @DISEASE$, and recognize the first signs of the hyperthermic crisis @PHENOTYPICFEATURE$, hypermetabolism and muscular rigidity.	has_symptom
+764e80ef81acb06ceed2d69be13e11cccd9a1766	@DISEASE$ is a rare genetic abnormality which presents in the peri-anaesthetic period with tachycardia, hyperventilation, @PHENOTYPICFEATURE$ and acidosis.	has_symptom
+9ed2a41bbf7d6ea7e5ad178658dfeae27ad975f6	Previous reports suggest that these children have increased perioperative risk, including hypermetabolic events discrete from @DISEASE$, difficult airway management, isolated @PHENOTYPICFEATURE$, and difficult IV line placement.	has_symptom
+dec0b5863e9f2b175a627c445eae58a2cc0acd70	Muscle biopsy and in vitro contracture tests for diagnosis of susceptibility to @DISEASE$ (MH) were performed in two patients who had developed @PHENOTYPICFEATURE$ and severe myolysis during exercise.	has_symptom
+c458ab4743057b9eac335e348dd5a6e4680afea3	Temperature drift, afterfall, shivering, @DISEASE$, and @PHENOTYPICFEATURE$ are among the temperature-related conditions requiring vigilant assessment and nursing action during the postoperative period.	has_symptom
+c12f546169cd73406a85b57417790719eb5a0bf8	A young healthy male, who had three consecutive episodes of postoperative @PHENOTYPICFEATURE$ was anaesthetized with special precautions to prevent @DISEASE$.	has_symptom
+21b36f53eb97f07d0ca7f0cd514a8f3e651326c3	A 33 year old woman, with myotonia atrophica and a known susceptibility to @DISEASE$, presented during her second pregnancy with multiple episodes of @PHENOTYPICFEATURE$.	has_symptom
+df0cbfa1139c0fe626e088af7d8bfcda57800c50	The features include hyperglycemic hyperosmolar coma complicated by a @DISEASE$-like picture with @PHENOTYPICFEATURE$, rhabdomyolysis, and severe cardiovascular instability.	has_symptom
+503c76deeac516905eaf2788ed2bb2668b3dccf6	gene demonstrating @PHENOTYPICFEATURE$, ptosis, and uveitis with @DISEASE$.	has_symptom
+89f9f947d0bdbac9731d843292c396d1dd5e6455	gene demonstrating @DISEASE$, @PHENOTYPICFEATURE$, and uveitis with Stickler syndrome.	false
+8a90d32d66077ad4f0ae59908726181e653abfac	gene demonstrating short stature, @PHENOTYPICFEATURE$, and @DISEASE$ with Stickler syndrome.	false
+ace4aeec4856df1ac691851eee3f6d4f200428d8	gene demonstrating short stature, @PHENOTYPICFEATURE$, and uveitis with @DISEASE$.	false
+830e3d46fd4b9ab88277fe1f54c006fc076621f5	Of these 10 patients 7 (70 per cent) had a disorder of gonadal dysgenesis: 5 had @PHENOTYPICFEATURE$, 1 had dysgenetic male pseudohermaphroditism and 1 had @DISEASE$.	has_symptom
+dd82326b1c43d5073a98942f41f84aade486b6cd	Mutations of Desert hedgehog (DHH) have been associated to @DISEASE$ (PGD) and to @PHENOTYPICFEATURE$ (MGD); however, there have been no functional studies of mutations described in DHH.	has_symptom
+8ca4af15f11ef586647fdfb667f3f873d2ddc336	We report a case of anti-Ma-associated PLE/diencephalitis due to dysgerminoma in a woman with @PHENOTYPICFEATURE$, or @DISEASE$.	has_symptom
+b215dfe4c64f32b48d0fb2e7c50d8678261ed151	@PHENOTYPICFEATURE$ or @DISEASE$ is a sex-reversal disorder resulting from embryonic testicular regression sequences especially during the first few weeks of fetal life and is induced by mutations in the SRY gene.	has_symptom
+13c74452ad7cc31c46256cdd8c5b8e849ca53f4a	Out of the 14 patients presenting with primary amenorrhea, 5 patients (35.71%) were found to have Turner's syndrome, 2 (14.28%) had XX (pure) gonadal dysgenesis, 2 (14.28%) patients had XY @PHENOTYPICFEATURE$ (@DISEASE$), 2 (14.28%) patients had M?llerian agenesis, 2 (14.28%) patients had hypothalamic amenorrhea, and 1 (7.14%) patient was found to have multiple pituitary hormone deficiency.	has_symptom
+103c6b807b4b2ffa0095722fbb1a1130ef2d9e92	@DISEASE$ is a type of @PHENOTYPICFEATURE$ correlating with 46 XY karyotype, primary amenorrhea, and female internal and external genitalia.	has_symptom
+dc2f954a3923565fefcbbabf2caa558a96205c85	Two out of eight patients presented @PHENOTYPICFEATURE$ (@DISEASE$), one presented 17-beta-hydroxysteroid-deydrogonase deficiency and the rest five presented Testicular Feminization Syndrome.	has_symptom
+0d9a0d9b89d9594453bae2fcc1e9584ea1be01b1	This malignancy can be associated with pure gonadal dysgenesis or @DISEASE$, mixed gonadal dysgenesis and partial @PHENOTYPICFEATURE$.	has_symptom
+82cb172963f1b3f4864c84619f49df4b50317aa4	This malignancy can be associated with pure gonadal dysgenesis or @DISEASE$, @PHENOTYPICFEATURE$ and partial gonadal dysgenesis.	has_symptom
+798c01bce9c414d13ffad742f7e54b093a786f13	This malignancy can be associated with @PHENOTYPICFEATURE$ or @DISEASE$, mixed gonadal dysgenesis and partial gonadal dysgenesis.	has_symptom
+cb06582f252f90ae33debf45bda67827b4d578e9	@DISEASE$ (SCAR20) is a recently described disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities.	has_symptom
+8b3119939d6a91ff5bd5ec056875681078fba22d	@DISEASE$ (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and @PHENOTYPICFEATURE$.	false
+fb463254468953abcaa408e53ad2247c155400ee	Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by @PHENOTYPICFEATURE$, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often @DISEASE$ and skeletal abnormalities.	false
+153b89b70c54c59907e1e944513a492a14bb7d5b	Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, @DISEASE$, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and @PHENOTYPICFEATURE$.	false
+c670e912785cdbf9c86b9a58d6ddb57270b29d8d	@DISEASE$ (SCAR20) is a recently described disorder characterized by @PHENOTYPICFEATURE$, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities.	false
+1224156357f60be1ca71a058dd5a3d783d025da6	Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dc5c7eb6092f2efaab3b1aa5f8a23509e8233eaf	Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities.	false
+b858bc81b5f8fd77b7da6776544ade05c1554def	Glucose storage disease type IXa (@DISEASE$) is an uncommon condition presenting with childhood onset @PHENOTYPICFEATURE$, growth retardation, and often, fasting ketosis and hypoglycemia.	has_symptom
+dc6af73bb9822a9665ce2a8b2516405548db3ac2	Glucose storage disease type IXa (GSD IXa) is an uncommon condition presenting with childhood onset hepatomegaly, @PHENOTYPICFEATURE$, and often, fasting ketosis and @DISEASE$.	false
+8e24e9ef77c701048707ff8c4a5f2b00283dffa4	Glucose storage disease type IXa (@DISEASE$) is an uncommon condition presenting with childhood onset hepatomegaly, @PHENOTYPICFEATURE$, and often, fasting ketosis and hypoglycemia.	false
+2f100ef4adf16e0d9ec6a2adf5a9872ee6abcbbc	Glucose storage disease type IXa (GSD IXa) is an uncommon condition presenting with childhood onset @DISEASE$, @PHENOTYPICFEATURE$, and often, fasting ketosis and hypoglycemia.	false
+f6e5eb27ed792181fed998fbf2a21540e0599edb	Corneal Dystrophy and Perceptive Deafness (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	has_symptom
+dda167cef8b60d4d002066b6b6acadf94a29b3f5	Corneal Dystrophy and Perceptive Deafness (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	has_symptom
+9749e52fb1ba1c71371676c1e3570721848cfc22	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive @DISEASE$, which usually begins after the second decades of life.	false
+f49d77310bf810a17b8b02c27187786bdd4a0953	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or Harboyan syndrome is an autosomal recessive @DISEASE$ disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+ac136e2a24be5456ef9218604b7510f50f1bec29	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+6dcdccf53c5b58246cbb2696700bfce8b7c9112b	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+8b2bd29f2609147f25d806877a1981d0470717cd	Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive @DISEASE$, which usually begins after the second decades of life.	false
+83e0aedeb5f017ac4734ae3f6369fb5bd1d34143	Corneal Dystrophy and Perceptive Deafness (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+7f7cf6147fd3cdf0cbd174d864d6ecc402fe9306	@DISEASE$ and Perceptive @PHENOTYPICFEATURE$ (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+b75e5440551f0eec57db59902af96a9aa9c80e2d	@DISEASE$ and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+3a47803aa79adcdf461538f48c993da0eed0dd62	Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive @DISEASE$ disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+329092cc8714b8d6047ddd83c97130f0599e03d5	Corneal Dystrophy and Perceptive Deafness (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+cff98efdf463997accc6595570250610afd09629	Congenital corneal dystrophy and progressive @PHENOTYPICFEATURE$ (@DISEASE$)	has_symptom
+862ea40ef6ac15ae3777c14c2ae892313d7179da	Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and @DISEASE$ consisting of corneal dystrophy and @PHENOTYPICFEATURE$.	has_symptom
+bb2c2cdb2f78a6c483713a89c7974afba7119544	Congenital hereditary endothelial dystrophy with progressive @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+4df60cfc95951ca87cdf5fcbd9fcdb8feecc0eb3	@DISEASE$ is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual @PHENOTYPICFEATURE$.	has_symptom
+adbea0d55031eccb39fe7b07e284a7d7e7b91c00	Analysis showed that age, gender, cranial nerve deficit, motor deficit, preoperative Karnofsky Performance Score (KPS), midbrain involvement, and brain stem involvement had no effect on neither perioperative mortality nor long-term survival, while local invasion and @DISEASE$ pathology increased perioperative mortality and presence of @PHENOTYPICFEATURE$ and pineoblastoma pathology significantly decreased long-term survival.	has_symptom
+47baf8871ec64e5c5eb1d6668a8b33c41c575b9e	A 58-year-old female with @DISEASE$ developed intratumoral hemorrhage after ventriculoperitoneal shunting for @PHENOTYPICFEATURE$.	has_symptom
+a134b35c7dda136e06cde628f13c21a0a055bfbe	A child with @DISEASE$ underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and @PHENOTYPICFEATURE$.	has_symptom
+80e7fa1cbab85bb6a7580156758364314eb4ae49	@DISEASE$ with progression to @PHENOTYPICFEATURE$ in a mouse model (ICGN strain): clinical study.	has_symptom
+6b167e1a434726989f7522dbab211efb254afea3	Twin girls, born at 35 weeks gestation, manifested symptoms of @DISEASE$, @PHENOTYPICFEATURE$, and severe respiratory abnormalities refractory to assisted ventilation.	has_symptom
+629ead42ec97d7800c4e7ca6803345c5a7f6a05d	@DISEASE$ is a heterogeneous disease, characterized by heavy proteinuria and @PHENOTYPICFEATURE$.	has_symptom
+22811c5048d822ec6a31508be33c8bb629a8ae52	We report a case of Denys-Drash syndrome, a disorder characterized by male pseudohermaphroditism, @DISEASE$, and early @PHENOTYPICFEATURE$.	has_symptom
+6d75e2006e18cfd7fe628c093f2e561328a42e88	This is the report of the results obtained with continuous enteral feeding in @DISEASE$ (3 cases), cystinosis (3 cases) and @PHENOTYPICFEATURE$ (3 cases).	has_symptom
+3a443471029fec886b1071a7ae20bc8acc1bb131	@PHENOTYPICFEATURE$ was caused by glomerulnephitis in 4 patients, 3 had a history of obstuctive uropathy, 2 were diabetic and one had @DISEASE$.	has_symptom
+00f7918e07aa41e98117c7b5d606f3e1a5803528	@DISEASE$ with focal segmental glomerular sclerosis, @PHENOTYPICFEATURE$ and tubular dysfunction.	has_symptom
+4aebb90066aac9049047e8ce67d03c9ae6d63698	Long-term results in children with @DISEASE$, severe cystinosis and @PHENOTYPICFEATURE$ (author's transl)].	has_symptom
+b5a27b462b8c74298637a7eea1385d497c388138	The index case presented at birth with bilateral microcoria, severe hypotonia, respiratory distress, and @DISEASE$ associated with anuria and severe @PHENOTYPICFEATURE$ requiring peritoneal dialysis.	has_symptom
+b8256bc2fcc033132749fda07c81917faca62b48	@DISEASE$ (TS) is a disorder characterised by multiple motor and @PHENOTYPICFEATURE$ and is frequently associated with behavioural problems.	has_symptom
+2ab418aa2f8d843d021e8821fdf66f359be2a34d	The principal presentation was pneumonia in 278 (51%), genitourinary infection in 76 (14%), @PHENOTYPICFEATURE$ in 68 (13%), bacteremia without evident focus in 59 (11%), septic arthritis/osteomyelitis in 20 (4%) and neurological @DISEASE$ in 14 (3%).	has_symptom
+0c47422641c2a57ab58ed95433566a21c16c3d01	@DISEASE$ in humans presents variably as fulminant sepsis, pneumonia, @PHENOTYPICFEATURE$ and solid organ abscesses.	has_symptom
+4474f71efd4a9a4295cef8cdc9dd1c0456386b1c	Oral-facial-skeletal (OFS) syndromes include short rib-@PHENOTYPICFEATURE$ (SRP) and oral-facial-digital (@DISEASE$) syndromes.	has_symptom
+3129c06a45b76ee28465626b0bddf08dd5ac7d70	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	has_symptom
+c0b4a55245446f8147e5b6817dd8f29ead8dd408	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+5b252fae0f28561798a4f238bd593a114e2cb873	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+87f43919575e3e1af72ff9dd836700628ae03dfe	Bilateral duplication of the hallux, @DISEASE$ of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome.	false
+dfe4b2edcda9c28857cc9401b366dd8af66fa3d9	Bilateral duplication of the hallux, @DISEASE$ of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (OFD) type II syndrome.	false
+5fe0a6659fd475adad2ed7101d8181b9cb07f42d	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (OFD) type II @DISEASE$.	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	has_symptom
+98cf4fa9535b38b188c5c4a31169453ff4a66df7	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+bef6b1717764adbba855262aef86807f9782a012	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+05502d9bce4c0299fe9f8cbb60b78f826936e29c	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+75d30e27bd3cf0a1d2a2f710b1846b256f4e9726	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+4534d9d7618815cda40a229688ec5a73c8fb874d	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @DISEASE$, @PHENOTYPICFEATURE$).	false
+84f1b431ac8bda8fdd356d605e2626eb42866e9e	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+5790cc8895536b8bb9e154d929f2b7d079c463e4	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, @DISEASE$, syndactyly).	false
+73d1652c195ac9ac4ca7af72c4168bf279ba9b2b	Analysis of 184?individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib @PHENOTYPICFEATURE$ syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and @DISEASE$ IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.	has_symptom
+a7fb8cd7cd8ec9ec710d728c7745f5ab5c3ade07	Analysis of 184?individuals with various ciliopathies (@DISEASE$, Meckel, Joubert, and short rib @PHENOTYPICFEATURE$ syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.	has_symptom
+c09cb6fba039f2941fa8126f6e7cf2a044c8f53b	Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (@DISEASE$), and show that the OFD patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	has_symptom
+966a4384e6fe268bbf9eaafdb6e89aef2a395163	Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (OFD), and show that the @DISEASE$ patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	has_symptom
+9b915e09e0ac002f06e406b955145bfd2d817e6c	The features of @DISEASE$ type II overlap with those of OFD type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	has_symptom
+d1d05af535b571539e6e04a63a8171b6e3560f66	The features of OFD type II overlap with those of @DISEASE$ type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	has_symptom
+e069caa98cfdc66f03df2becc7a3abbf5c7ce151	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, @PHENOTYPICFEATURE$ and skeletal dysplasia.	has_symptom
+911af9923543fcd2109d84103f76ae12c4954342	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+e0407cbc8858f5ec16452f71644d638129f682c8	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$ and skeletal dysplasia.	false
+47b1b4da56da322abbcb77141719883791a93185	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+be2c2114d56c46d8fe86c226b7b9c6e0febae61a	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, corpus callosum agenesis, @DISEASE$ and skeletal dysplasia.	false
+7a23ea42d5b6b4e17369e7d49240f8f65cbd3f60	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1ac6c8c26501b340f5a26633a6d7454b0b64258b	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, @DISEASE$ and skeletal dysplasia.	false
+633fa2208ddc01761c21b625065c041158c9aadf	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @PHENOTYPICFEATURE$, polydactyly and skeletal dysplasia.	false
+51b14f54035c10952b123cd13c0e129c0b30f2a5	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+0f75103fd7de876da41e89ea6570b9e700314b39	@DISEASE$ (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple @PHENOTYPICFEATURE$ and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders.	has_symptom
+a003f59dd94bfee72c1060d0bb6654195e329df4	@DISEASE$ (TS) is a @PHENOTYPICFEATURE$ neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders.	false
+344048f1ae175f42e869a8172b05c25fbdb4ec3c	Tourette syndrome (TS) is a @PHENOTYPICFEATURE$ neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid @DISEASE$.	false
+aa96c9d0b4a1aba297068f18a7716028b204dcfa	Tourette syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders.	false
+0bf484438abdf86a508d68521a2ec6b335aa00fe	Tourette syndrome (TS) is a @PHENOTYPICFEATURE$ neurodevelopmental @DISEASE$ characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders.	false
+b8dc8089ea33ba886922fd1973cf4f52e0694553	Tourette syndrome (TS) is a @PHENOTYPICFEATURE$ neurodevelopmental disorder characterized by multiple @DISEASE$ and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders.	false
+598b6db209dd787c0c9b0a3da27e69954c327f8a	Gilles de la @DISEASE$ (GTS) consists of multiple @PHENOTYPICFEATURE$ and one or more phonic tics.	has_symptom
+7a0c50a81c81a4060069d08a97d0b3be389c264c	@DISEASE$ (TS) is a common neuropsychiatric disorder, more common in males than females, with onset before age 18. TS is characterized by multiple @PHENOTYPICFEATURE$ and one or more vocal/phonic tics, persisting for more than a year.	has_symptom
+6bf0e69a377976c4d531ff764e432af9d5d2176e	@DISEASE$ (TS) is characterized by multiple @PHENOTYPICFEATURE$ plus one or more vocal (phonic) tics, which characteristically wax and wane.	has_symptom
+d4c3c4a327e639a2a578377185f6183ea2398123	@DISEASE$ (TS) is a neuropsychiatric disorder characterized by multiple @PHENOTYPICFEATURE$ and one or more vocal tics.	has_symptom
+3f2daffacb5daa9c74c12b8bb6dcdad8ae6c8c4e	@DISEASE$ (TS) is defined as a disorder characterized by multiple @PHENOTYPICFEATURE$ and at least one vocal tic that have lasted for not less than one year.	has_symptom
+e62a8a97358d3c2e81eed28deaf9a3482730f691	@DISEASE$ consists of multiple @PHENOTYPICFEATURE$ and one or more vocal tics.	has_symptom
+15ca139995fd163b3095091cd8c5524f8ed0adb7	@DISEASE$ (TS) is a neuropsychiatric disorder characterized by a combination of multiple @PHENOTYPICFEATURE$ and at least one phonic tic.	has_symptom
+b96e3982ea693285eb5c056118903e8ef44f7795	Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+207382f85d4cb6e03da78ed0617eba03c93f8df3	@DISEASE$ (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple @PHENOTYPICFEATURE$ and at least one vocal tic.	has_symptom
+df702ca10ec337d1cd3db15d35eaec463171dafb	We report on a six years old boy with several features of @DISEASE$ (GCPS) including craniofacial dysmorphism, hypertelorism, @PHENOTYPICFEATURE$, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.	has_symptom
+a735795e2b0a5e0524cc60595cc54373965ef1cf	We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, @PHENOTYPICFEATURE$, @DISEASE$, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.	false
+a6b79a0f78db0a5acd5a8220c81c870662cd301e	We report on a six years old boy with several features of @DISEASE$ (GCPS) including craniofacial dysmorphism, @PHENOTYPICFEATURE$, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.	false
+e57b69bab45a5e971416818b9d379755892f1848	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with @DISEASE$ described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, seizures, muscle fiber anomalies, @PHENOTYPICFEATURE$, hyperglycemia, and hirsutism.	has_symptom
+2a7e9de7f21c4f784c65b26ae43019e522e8efb2	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with @DISEASE$ described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, @PHENOTYPICFEATURE$, muscle fiber anomalies, cardiac anomalies, hyperglycemia, and hirsutism.	false
+619a95c37a655204b68f149be807648f549c8cee	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, @PHENOTYPICFEATURE$, muscle fiber anomalies, @DISEASE$, hyperglycemia, and hirsutism.	false
+645a31f0d7824257463abe51c41d7382ecc82905	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, @PHENOTYPICFEATURE$, muscle fiber anomalies, cardiac anomalies, @DISEASE$, and hirsutism.	false
+b52a681d70a6b5b3fa868780917a52bb584ad2c5	involving three chromosomes in a 7-year-old boy with severe psychomotor retardation, neonatal muscular hypertonia, @PHENOTYPICFEATURE$, polysyndactyly of hands and feet, and dysmorphic features resembling @DISEASE$.	has_symptom
+3e2c907e5d9d5b502d304ef4522518e9855c7468	involving three chromosomes in a 7-year-old boy with severe psychomotor retardation, neonatal muscular @PHENOTYPICFEATURE$, congenital heart defect, polysyndactyly of hands and feet, and dysmorphic features resembling @DISEASE$.	false
+eb69eb7d74d144a5f7dad01294de7cc4f3c4eeb7	involving three chromosomes in a 7-year-old boy with severe psychomotor retardation, neonatal muscular @PHENOTYPICFEATURE$, @DISEASE$, polysyndactyly of hands and feet, and dysmorphic features resembling Greig cephalopolysyndactyly syndrome.	false
+ddcb8fb60567839eb09c031aff5c9c623946c800	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the @DISEASE$ (OMIM 616682) characterized by intellectual disability, facial dysmorphisms and @PHENOTYPICFEATURE$.	has_symptom
+9d44f6d3edb389746a236b6fffcc327710dcba1a	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the Seizures-Scoliosis-Macrocephaly syndrome (OMIM 616682) characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and @DISEASE$.	false
+b7ad096f477e7238c4e06ac548a60fbab9b01e95	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the Seizures-Scoliosis-Macrocephaly syndrome (OMIM 616682) characterized by intellectual disability, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+69461a65352486b2236a7eb479dd440611726776	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the @DISEASE$ (OMIM 616682) characterized by intellectual disability, @PHENOTYPICFEATURE$ and seizures.	false
+2aff1ce217269715e86e0d000dceccd56b1d447e	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the @DISEASE$ (OMIM 616682) characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and seizures.	false
+da6610db5643a69f7c3f98b91a9fe043533d9ac9	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	has_symptom
+f5cad8f898d71f6d4eb5a0f4f10b40342bf67c4a	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+e21b98ab3145c7ad0751e714319f9e37eeb635aa	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @DISEASE$, intellectual disability, hypotonia, scoliosis, @PHENOTYPICFEATURE$, hypertelorism and renal dysfunction.	false
+c7413567d1597b152a2178f3e121d30680015502	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, intellectual disability, hypotonia, @DISEASE$, macrocephaly, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+897385826c5d5bcff67b2c00feec0ccdc3003f08	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+08ea8ad5aac53e5190750c5553a9e6c5907d6103	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, intellectual disability, hypotonia, scoliosis, @PHENOTYPICFEATURE$, hypertelorism and renal dysfunction.	false
+9eadc318f5b2b36c1416e9d60e83a72768aceab3	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+55eeaf1305bce2f86d001efab03f39f339b405e9	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @DISEASE$, intellectual disability, hypotonia, scoliosis, macrocephaly, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+91182bf0cb9fc0a21d16f13f9b31280222f2191e	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, macrocephaly, hypertelorism and renal dysfunction.	false
+e1ff7295799f281b76df47a8b0887abc286c642a	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, intellectual disability, hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism and renal dysfunction.	false
+38df710853c71c9a0d3ef26b27cf6f58f2198e98	Autosomal recessive macular corneal dystrophy (@DISEASE$) is a heterogeneous disorder leading to @PHENOTYPICFEATURE$.	has_symptom
+a0977dc4f482c3774793272778b9d7e53112ef07	Macular corneal dystrophy (@DISEASE$; OMIM 217800) is a rare autosomal recessive inherited disorder caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) and characterised by the presence of unsulfated keratan sulfate proteoglycans (KSPGs) forming abnormal deposits that eventually lead to @PHENOTYPICFEATURE$.	has_symptom
+bf1e947663fd49de72727215a8b3ebaa83d39cd1	Labrador Retrievers affected by @DISEASE$ were presented between the age of 4.5 and 6?years of age with a history of cloudy eyes and/or @PHENOTYPICFEATURE$.	has_symptom
+ff88135b420083794c0738cc85e1f7121a499e80	We present a case of a young male with a history of neurofibromatosis type 1 who presented with symptomatic @PHENOTYPICFEATURE$ and melena and was ultimately found to have a @DISEASE$.	has_symptom
+f9a9eecbc8e09274a8bd2b1753be9c3905e8ec84	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	has_symptom
+636ea5913e361fb12596897acdfabe3573cd83e9	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, @DISEASE$ retinopathy, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+6922c9da762522efcf00606359ba66f871ada15f	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+a32f0c4aabebb94ea0661b24c4e87f128c6527d1	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary @DISEASE$, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+aafa01a1c4656098d30bbdc4756b68ec0966b704	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, @DISEASE$ retinopathy, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+0dff7d9b8fffe7b0a03e4892d7a25bf7cd3df841	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @DISEASE$, pigmentary retinopathy, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+cf20931117f6482eacb2c20146638638888fe65b	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+ce2f973d496fc865d7ca559833b38dc0ccba80eb	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+b7bb7579425f528a9829df1744705fa71c80e1ff	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary @DISEASE$, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+340fb1b76935d2f9e8c53d342bdbc48b1c3425da	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @DISEASE$, pigmentary retinopathy, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+6d1091d7e89139df9139e673b2f801fa4363e2df	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, @DISEASE$ retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+35b96539fedc1ba247aa08986944499194ca64eb	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and @DISEASE$, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+e0e1a7392bc03cda8a3dd0e7b9db3cc8a00d07cc	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary @DISEASE$, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+c1d19c2e35b34970901f4fd52b20ac4f9cec15fa	Patients with @DISEASE$ show intellectual disability, @PHENOTYPICFEATURE$, and distinctive features.	has_symptom
+e6b220266baaad94e8d8053dbc3690f0e853228a	Patients with 1q41q42 microdeletion syndrome show @PHENOTYPICFEATURE$, @DISEASE$, and distinctive features.	false
+4c4e45354d7a4aefcc08e3427de60e0ddb8d9692	Patients with @DISEASE$ show @PHENOTYPICFEATURE$, seizures, and distinctive features.	false
+111ec0369dc29518a94a335782464afa5e5e9a79	We propose that FBXO28 is a possible candidate causative gene contributing to the intellectual disability and @PHENOTYPICFEATURE$ phenotype observed in @DISEASE$.	has_symptom
+08544957f6c4e5b8b36c876326388185da4d5aa8	We identified an @PHENOTYPICFEATURE$ case of @DISEASE$ caused by novel compound heterozygous mutations of the PEX10 gene.	has_symptom
+8338d3dab5ed8684267ce71e5326efc3132f03bd	Duchenne muscular dystrophy (@DISEASE$) patients experience skeletal @PHENOTYPICFEATURE$, including respiratory muscles.	has_symptom
+6f73086be094e7ae512d837d5c19cfcb4c11826a	@DISEASE$ (DMD) patients experience skeletal @PHENOTYPICFEATURE$, including respiratory muscles.	has_symptom
+117330e19240b3907559fadea76f6e96cc17b7e1	Duchenne muscular dystrophy (DMD) is a severe, progressive @PHENOTYPICFEATURE$ disorder caused by reading frame disrupting mutations in the @DISEASE$ gene.	has_symptom
+e501164892c9d89f46ea6687ca3d5f3fc5aed9e9	@DISEASE$ (DMD) is a severe, progressive @PHENOTYPICFEATURE$ disorder caused by reading frame disrupting mutations in the DMD gene.	has_symptom
+d2e545a88e0c95636bd509f4d0cf861cd1f0a8db	Duchenne muscular dystrophy (@DISEASE$) is a severe, progressive @PHENOTYPICFEATURE$ disorder caused by reading frame disrupting mutations in the DMD gene.	has_symptom
+f4cd6130b035008eb0a5a73caa0e55e99ebb4bad	In Duchenne muscular dystrophy (@DISEASE$), dystrophin mutation leads to progressive lethal skeletal @PHENOTYPICFEATURE$.	has_symptom
+324fd3fea883815339e91d9d2ce5fabe21f17af7	In @DISEASE$ (DMD), dystrophin mutation leads to progressive lethal skeletal @PHENOTYPICFEATURE$.	has_symptom
+0324855f67944e645eb42674ef01be30ff72a1d6	@DISEASE$ (DMD) is a severe @PHENOTYPICFEATURE$ disorder caused by mutations in the DMD gene, affecting 1 in 3500 newborn males.	has_symptom
+61fb6f61e6725516e58c21d9894860c0197bbf81	Duchenne muscular dystrophy (DMD) is a severe @PHENOTYPICFEATURE$ disorder caused by mutations in the @DISEASE$ gene, affecting 1 in 3500 newborn males.	has_symptom
+d7aba2e9ec131f0117a7fb9dacc316f55700a496	Duchenne muscular dystrophy (@DISEASE$) is a severe @PHENOTYPICFEATURE$ disorder caused by mutations in the DMD gene, affecting 1 in 3500 newborn males.	has_symptom
+5675cd77c8c7839fe6a46cfff07a4581016e23e8	Duchenne muscular dystrophy (@DISEASE$) is an inherited disease characterized by early onset of skeletal @PHENOTYPICFEATURE$ and progressive weakness.	has_symptom
+14c086791a426b61a58f1a1541f7893eb3a34d7e	@DISEASE$ (DMD) is an inherited disease characterized by early onset of skeletal @PHENOTYPICFEATURE$ and progressive weakness.	has_symptom
+a0a14493441887c21f15f7a451634896c7d622a7	@DISEASE$ (DMD), caused by dystrophin deficiency, results in chronic inflammation and irreversible skeletal @PHENOTYPICFEATURE$.	has_symptom
+a6f6eb3446d37386f8b7a6093334467824ed33c5	Duchenne muscular dystrophy (@DISEASE$), caused by dystrophin deficiency, results in chronic inflammation and irreversible skeletal @PHENOTYPICFEATURE$.	has_symptom
+b241cf26a7a9bc28411ecb7d70ec478c2e53991a	@DISEASE$ (DMD) is a severe @PHENOTYPICFEATURE$ disorder typically caused by frame-shifting mutations in the DMD gene.	has_symptom
+8ecf5a7fffd6fbc874d2936465d30e0156d30696	Duchenne muscular dystrophy (@DISEASE$) is a severe @PHENOTYPICFEATURE$ disorder typically caused by frame-shifting mutations in the DMD gene.	has_symptom
+7ec8845a02b71d0c4eb353d704bf69a60be8e681	Duchenne muscular dystrophy (DMD) is a severe @PHENOTYPICFEATURE$ disorder typically caused by frame-shifting mutations in the @DISEASE$ gene.	has_symptom
+f1b7cdacd4f71dfbd9c806c0dd0876f1ac226ba2	@DISEASE$ (DMD) is a rare pediatric neuromuscular disease associated with progressive @PHENOTYPICFEATURE$ and extensive care needs.	has_symptom
+deeeb4fda8db8a07d3f0b42e8f19fd86336534c2	Duchenne muscular dystrophy (@DISEASE$) is a rare pediatric neuromuscular disease associated with progressive @PHENOTYPICFEATURE$ and extensive care needs.	has_symptom
+64e556c4a27bb3c8b84e5e3c3657cd524d336b9b	Duchenne muscular dystrophy (@DISEASE$) causes progressive @PHENOTYPICFEATURE$, cardiomyopathy and respiratory failure in approximately 1/5,000 boys.	has_symptom
+6077e02b5d0e39fb122730c40f190564e1bb3878	@DISEASE$ (DMD) causes progressive @PHENOTYPICFEATURE$, cardiomyopathy and respiratory failure in approximately 1/5,000 boys.	has_symptom
+617a483ab6389242a4afa964d5170d35ceb1d975	Neuropsychological performance of children with @DISEASE$ and spinal @PHENOTYPICFEATURE$.	has_symptom
+48e82158b1224e6c442d8d2a9b8eb1f5648c343d	In many cases, @DISEASE$ has been associated with @PHENOTYPICFEATURE$ (Harris et al., 1959; Robb et al., 1984).	has_symptom
+04e89e4d69bb519f4c8e1d42da3100acefaef399	@DISEASE$, @PHENOTYPICFEATURE$, and juvenile diabetes mellitus.	has_symptom
+c9daea2f861dd3e63050ec05af6cf66303e8c79b	Hereditary syndrome consisting in recurrent attacks resembling @DISEASE$, special facial features, and @PHENOTYPICFEATURE$.	has_symptom
+d08a8abe678e0050f76bd4d28915f58023d54e13	Thus, collagen VI mutations result in disorders with combined muscle and connective tissue involvement, including weakness, joint laxity and @PHENOTYPICFEATURE$, and abnormal skin findings.In this review we highlight the four recognized clinical phenotypes of collagen VI related - myopathies; Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM), @DISEASE$ phenotype and autosomal recessive myosclerosis.	has_symptom
+831a451ac8c06fcebbeb176483567269adc75e75	@DISEASE$ with ankle @PHENOTYPICFEATURE$.	has_symptom
+50631f0c0078cdf56bad31ac087d8ad5277b4207	@DISEASE$ is an uncommon association of polyneuropathy, organomegaly (liver, spleen, lymph nodes), endocrinopathy (@PHENOTYPICFEATURE$ primary hypothyroidism, diabetes mellitus, adrenal insufficiency), monoclonal gammopathy and skin changes; bone lesions (generally osteosclerotic, less frequently osteolytic or mixed) are nearly always present in this multisystem disease.	has_symptom
+0966f4f6dbf4f4fca76934140cd11bf76deab999	responsible for @PHENOTYPICFEATURE$ and mild @DISEASE$ anomaly.	has_symptom
+6d14820b869105e75952313329439b867987d942	With her dysmorphic @DISEASE$ features and @PHENOTYPICFEATURE$ 22q11.2	has_symptom
+d7fa1159a5b3a60e2f44e8f53a5bb3fd8dc47082	Clinical manifestations included @DISEASE$ and hand anomalies and @PHENOTYPICFEATURE$.	has_symptom
+2ec8741e2276acd957ab413b537eba6a8857c60b	Clinical manifestations included facial and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+77eba32bf2fc71d82375e41e64471e3dc1f0923e	Clinical manifestations included @DISEASE$ and @PHENOTYPICFEATURE$ and mental retardation.	false
+f519337e2df23d5f807a4c6c8dcb1db86db7fd8c	Pneumosinus dilatans multiplex, @PHENOTYPICFEATURE$, and @DISEASE$ deformity.	has_symptom
+147443654d39eab2d6358ea5c495897ecf6e987c	Hirschsprung disease, @PHENOTYPICFEATURE$ and dysmorphic @DISEASE$ features in five unrelated children.	has_symptom
+fb48067f9d72131d7dfff6b9b5ffccdfb93b34b1	Syndrome of @PHENOTYPICFEATURE$, @DISEASE$ anomalies, hypopituitarism, and distal arthrogryposis in sibs.	has_symptom
+45bac6ed315340e143c5b78556c29557e116fb12	A @PHENOTYPICFEATURE$ woman with @DISEASE$ skin lesions].	has_symptom
+3deb36815f212a2976593ff305c50f37813611b7	Clinical findings characteristic of TSC include @DISEASE$ angiofibroma, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+7c0e5b30aa0fa5b9396854547f301d22164b0550	They had severe micromelic dwarfism, @DISEASE$ anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+70c85eba0cdd87fc54c7074f035e0ad082aed65d	Homozygous family members display epilepsy, @DISEASE$ dysmorphisms, severe @PHENOTYPICFEATURE$ and impaired language.	has_symptom
+a4a91c1f02c11768dcd220347f616beb3b319f54	Mutations in the tRNA genes of mitochondrial DNA (mtDNA) cause the debilitating MELAS (@DISEASE$) and MERRF (@PHENOTYPICFEATURE$ epilepsy and ragged-red fibres) syndromes.	has_symptom
+43314bceaca43eaad781b46c6c0d0780b1f16555	Two of these diseases, MELAS (@DISEASE$) and MERRF (@PHENOTYPICFEATURE$ epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA.	has_symptom
+619b9371493960971c4bbdd64118a9a1844a5880	Two of them are the well-known pathogenic MELAS (@DISEASE$) (A3243G) and MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged-red fibres) (A8344G) point mutations.	has_symptom
+b24eba8460000ec83f495286b6e91fb9ee416d5c	Three patients had @PHENOTYPICFEATURE$ epilepsy and ragged-red fibers, and the other 3 patients had @DISEASE$.	has_symptom
+d8e501815cac2ea2c4e3f63b6b0a8a0a3d0656d7	@DISEASE$ (MELAS) and @PHENOTYPICFEATURE$ epilepsy and ragged-red fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial genome.	has_symptom
+ad717c46e5834d14c9f16a30fc9c830df74e9eed	This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: @DISEASE$ (MELAS), @PHENOTYPICFEATURE$ epilepsy and ragged-red fibers (MERRF), and polymerase gamma (POLG) related disease.	has_symptom
+efb84edc2ce6f73dafa9b3e64f2c6a64267acc04	A similar sequence of events takes place in mitochondrial diseases MELAS (@DISEASE$) and MERRF (@PHENOTYPICFEATURE$ epilepsy and ragged-red fiber syndrome).	has_symptom
+0e08aea3877ba50e21ea518fd53a2dfef3be8d44	Six of these patients presented with strokelike episodes and met the classical criteria of @DISEASE$ (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes), and one had MELAS/MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged-red fibers) overlap syndrome.	has_symptom
+ee900f1d917fdd448ec295f558b65544029473a1	Six of these patients presented with strokelike episodes and met the classical criteria of MELAS syndrome (@DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes), and one had MELAS/MERRF (myoclonic epilepsy with ragged-red fibers) overlap syndrome.	false
+cc8c5537e066146a207334c4828ac9617ba2fe6a	Six of these patients presented with strokelike episodes and met the classical criteria of @DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes), and one had MELAS/MERRF (myoclonic epilepsy with ragged-red fibers) overlap syndrome.	false
+97341d1a8ed8c4fda564bdca12248c7b22a85460	Six of these patients presented with strokelike episodes and met the classical criteria of MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes), and one had MELAS/MERRF (@DISEASE$ epilepsy with ragged-red fibers) overlap syndrome.	false
+f003af6ab1c5dcf228c0463816d019a34e054c54	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (@PHENOTYPICFEATURE$ epilepsy with ragged-red fibers), @DISEASE$ (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	has_symptom
+ebd5ae8622ba9d3442dc1187dc44cf6b191ff003	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), @DISEASE$ (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+87ea197e119edf8e012c2f3890c7b1cbf2a75aa7	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (@DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+fb3fdd7a1150c2882bbabaf29ea614c5a84b27e0	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), @DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+9b4c1feb8de3110d32d68fb4c5f03adca549cb3d	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), @DISEASE$ (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+81d29acc8a9e9358912e5eea0342683e5ab9ced5	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (@DISEASE$ epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+a908104de75c1283ad757f5c8c48e521e3730790	Point-mutations, deletions and depletion of the mitochondrial genome are associated with disorders like Leber's disease, MERRF (@PHENOTYPICFEATURE$ Epilepsia with Ragged Red Fibers), MELAS (@DISEASE$) and several others.	has_symptom
+048172651a4a7a32d379912060e7c605891b1627	@DISEASE$ due to mutations in ITPR1: a case series and review of this emerging congenital @PHENOTYPICFEATURE$.	has_symptom
+f7baae5a8a88b78f23ce080108f5693be3703918	Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) have been identified in families with early-onset @DISEASE$ (SCA29) and late-onset SCA15, but have not been found in sporadic infantile-onset @PHENOTYPICFEATURE$.	has_symptom
+408811ba88cadb686a9dca575fb37bf524c82f9f	We report a case of type 2 @DISEASE$ with severe hepatosplenomegaly, @PHENOTYPICFEATURE$, hypertonia, and psychomotor retardation.	has_symptom
+6858ff1dda2504a0767f7be9966ee4044d8e0f54	We report a case of type 2 Gaucher disease with severe hepatosplenomegaly, @DISEASE$, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+fc90c0d59bdfab7c0c85702c2844bce075665edb	We report a case of type 2 @DISEASE$ with severe hepatosplenomegaly, anemia, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+3777ab75d15bc0163435521c73db26f787451aba	Neuronopathic @DISEASE$ can present as a continuum of clinical findings, including somatic symptoms of @PHENOTYPICFEATURE$, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae.	has_symptom
+c0f034b45c472e15af8a53d6a8edf9be304730b4	Type 1 Gaucher disease (GD1), resulting from @DISEASE$, leads to splenomegaly, hepatomegaly, @PHENOTYPICFEATURE$, thrombocytopenia, and bone involvement.	has_symptom
+1f50ad40c97a312a2f4b87833b61c1cd1aff7ece	Type 1 @DISEASE$ (GD1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, @PHENOTYPICFEATURE$, thrombocytopenia, and bone involvement.	has_symptom
+8f838f732caf818fbfd9e8f0abce9aa82f804111	Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fifteen years such as @DISEASE$ (AOA1) and type 2 (AOA2), @PHENOTYPICFEATURE$ with vitamin E deficiency (AVED) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).	has_symptom
+baa1ea36f65ec57321117824b63451e1d7d5aabd	Friedreich's @PHENOTYPICFEATURE$ (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fifteen years such as @DISEASE$ (AOA1) and type 2 (AOA2), ataxia with vitamin E deficiency (AVED) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).	has_symptom
+de78b305238cbeb02ff02eb72c7b9e29960c7811	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+afaa29c3049176b1bf329e9b8db0c90bed75b7c3	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+ebac1019a257e7bab5526b71e20f3335ddd25e5b	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+8b9df27a69b385aca003246d7d2fe91d9fd24892	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+b1b04cd8b272a13690fac416407870268c988a59	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @DISEASE$ with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+58d39eeb531533730ba7280aeba12c51f1612a0d	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, @DISEASE$, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+4ac4319b30825853cf52acf51d07da44ccab2827	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @DISEASE$, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+726f8aff73a5b0f4574e575b9815b6d1f2d4e256	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+998ffa2d6774170248f598139cd2d77a7f58cc81	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @DISEASE$, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+e8eaaddfa839c05863d1f5e6b756fea38d97158a	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, @DISEASE$, chorea, choreoathetosis, myoclonus).	false
+02c4687b57188c737dfa73eb5feb4ed80335ee89	Early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is an autosomal recessive form of cerebellar ataxia.	has_symptom
+4af40f2e29a10121d5394d9a42af2f286e57ba5c	Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is an autosomal recessive form of @PHENOTYPICFEATURE$.	has_symptom
+75a129cb78a3fa0297082fb8647e94d8c9cf916a	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is an autosomal recessive form of cerebellar ataxia.	false
+cb52651811e7ba578017ddfed614eb09735bd290	Early-onset @DISEASE$ with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of cerebellar ataxia.	false
+d37c04c6d647cf835fc1c14f18530808dead0efb	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of @DISEASE$.	false
+f17e5cba0dd58d8ffcff8dce288741dd4a43cfbc	Mutations of the aprataxin (APTX) gene cause early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH), also called @DISEASE$.	has_symptom
+ebdab074f15ea48a1b39802e5799ed84cb924057	Mutations of the aprataxin (APTX) gene cause early-onset @DISEASE$ with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH), also called ataxia with oculomotor apraxia type 1.	false
+32fd1b7e9f480f1b35fe346ee96d733c15f4432d	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH), also called @DISEASE$.	false
+25f67aa38f3fd3345050172d693e1e1737d2d8fb	Mutations of the aprataxin (APTX) gene cause early-onset @DISEASE$ with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1.	false
+b594d2623bcb2b973ee5754fa7a5c748561fcb05	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH), also called @DISEASE$.	false
+d4218040429f1309153617c521334d6a3d2ca3df	Early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is caused by mutations in the gene encoding aprataxin (APTX).	has_symptom
+ccbab14fe6b4b7c4441aa63124c6c703c45775e7	Early-onset @DISEASE$ with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is caused by mutations in the gene encoding aprataxin (APTX).	false
+150e60a4381dd9278cf8d7c429884ac0ecab6be3	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is caused by mutations in the gene encoding aprataxin (APTX).	false
+330a9618deb19e0edc51d0e3552aaf7bfe090aca	Other forms are much less common, and include abetaliproteinemia, @PHENOTYPICFEATURE$ with vitamin E deficiency (AVED), @DISEASE$ (AOA1) and 2 (AOA2), early onset cerebellar ataxia with retained reflexes, Charlevoix-Saguenay spastic ataxia, and Joubert syndrome.	has_symptom
+6609e2ac9dc463990ec31261c959b3516faec440	Other forms are much less common, and include abetaliproteinemia, ataxia with vitamin E deficiency (AVED), @DISEASE$ (AOA1) and 2 (AOA2), early onset @PHENOTYPICFEATURE$ with retained reflexes, Charlevoix-Saguenay spastic ataxia, and Joubert syndrome.	has_symptom
+5802af787ea8ab0e8b8f83e88f0b1fe971f2bb71	The five most common ARCA in this cohort were Friedreich @PHENOTYPICFEATURE$, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and @DISEASE$.	has_symptom
+e23d0d95d09caedfaa8eb4ffc4edd96caea8e588	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of @PHENOTYPICFEATURE$ include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (@DISEASE$, ataxia-telangiectasia).	has_symptom
+e19ddbd4188a201bd01ed9ad513834eded13cdf1	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (@DISEASE$, ataxia-telangiectasia).	has_symptom
+943a946b29a0b8c1ee686ca77fe1355125d52b49	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of @DISEASE$ include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+40dcd853ac0f01d5b41cd0969d143db801c4b951	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (@DISEASE$, ataxia-telangiectasia).	false
+338e2b13a194968a7d0682ed4fef81cc69f58c50	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (@DISEASE$, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+4fd1e69a02da4b2c2f4b1e12ff849c7bf9a16c7b	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or @DISEASE$ with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+0307156d63f27b94d28b17d3677c13372f869cc7	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include @DISEASE$ or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+243385d0193cf70e67940bc486566ab6a616d408	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, @DISEASE$ with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+2754ed6f7367c1d399c811301f82b35900e16011	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, @DISEASE$).	false
+5d530816c7b09eefde002f835e85ef532809dc52	Aprataxin is the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	has_symptom
+45fd849424235185fdb45e3257567be3b5df7715	Aprataxin is the causative gene product for early-onset @DISEASE$ with ocular motor apraxia and @PHENOTYPICFEATURE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+6c443c0e88f69e8c7816e67e524449dca7e041da	Aprataxin is the causative gene product for early-onset @DISEASE$ with @PHENOTYPICFEATURE$ and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+bb314a15c118de9c50ad8758c61ccc5f0abb5728	Aprataxin is the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+b3a7ee987c213c62993f2b08a85e790052579e6a	Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+70aaabe6c7223c1f31df92152d4a928b9092173c	Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency, ataxia telangiectasia, recessive spastic ataxia of Charlevoix-Saguenay and @DISEASE$ (refs.	has_symptom
+5103aa4d7568b9ef59a4bfc22aaeae5a67946205	Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency, ataxia telangiectasia, recessive spastic ataxia of Charlevoix-Saguenay and @DISEASE$ (refs.	has_symptom
+f4accd522c29aaa7da9538d9d94dad9cf166024c	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of @DISEASE$ (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and @PHENOTYPICFEATURE$.	has_symptom
+93b629bcc5c530e05e4704cdc6acf2e9e593cd9a	Genetic analysis of 17 presumptively diagnosed patients revealed one case of @DISEASE$ (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+c077d8196f88025eb90c62740425f2a93a486a35	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and @DISEASE$.	false
+34568788911bcf3cb659c781ebf5730e89498d3b	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one @DISEASE$ (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+62db1aea62f69083abd7f4c3bf0bc5039b8b0f1d	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of @DISEASE$ (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+21b58b121a7c6bb64e3ebb67d6516cd8e09f9c41	The results indicated that the patients with essential @PHENOTYPICFEATURE$, simple obesity and @DISEASE$ are insulin resistant and hyperinsulinemic after an oral glucose load.	has_symptom
+964eab23f871f02b9a3d37d6592e3a67bc610a44	The results indicated that the patients with essential @DISEASE$, simple @PHENOTYPICFEATURE$ and acromegaly are insulin resistant and hyperinsulinemic after an oral glucose load.	false
+7e6880f1128195613ef1277d598b537499152296	The results indicated that the patients with essential hypertension, simple @PHENOTYPICFEATURE$ and @DISEASE$ are insulin resistant and hyperinsulinemic after an oral glucose load.	false
+c4b79c2d0d480c46572f1ee69d9e29f1e66ab96f	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	has_symptom
+4bb0565d79881994bc0b8c0f0b75fdfed410ec8e	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+cc8d5e89a241e0274623643d82b17615714512b2	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+90544348a6cc33a7971ef10d0d930d782f369886	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+1e167c85a2b906ec7a3ad6e4041c57ca864e1362	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @DISEASE$, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+f668f32eef5b85a34f2961acdf52051583b34ba6	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @DISEASE$, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+7f461920509761bb4b49ed7443232b715d156c95	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, @DISEASE$, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+ba15f1f8332cfee586fdf0bbf12dcd7ba99c72a6	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+14c42736a79a7a8b5d40fe1e846ed7dc754fd24f	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, @DISEASE$, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+5bb8441ce9f1c9cb1a05d422bac5dd39be21636e	Thus, homozygous mutations in @DISEASE$ genes may be a more frequent cause of childhood @PHENOTYPICFEATURE$ in a consanguineous population.	has_symptom
+ffefd7bb62c7d7c98c751dd626f28b502e5cc7b9	Patients with @DISEASE$ may develop early onset of @PHENOTYPICFEATURE$ and severe metabolic abnormalities.	has_symptom
+7b4631a077721b33ac783062f0e7d034a0561d73	Syndromic @DISEASE$ is a rare and severe early-onset form of @PHENOTYPICFEATURE$.	has_symptom
+63b007f480a403f55d0c1967d261d1b82b70f43b	@DISEASE$ is a rare type of @PHENOTYPICFEATURE$ which is caused by a mutation in a single gene.	has_symptom
+dcff2b14f9a4912c28f5ebff4ddef2b4fcc16126	@DISEASE$ is responsible for up to 7% of severe childhood @PHENOTYPICFEATURE$.	has_symptom
+2fefd2dc2330d19139e1bf317583837d598cd683	This framework has been used to review @DISEASE$, hypothalamic @PHENOTYPICFEATURE$ and dietary obesity.	has_symptom
+5c653fc00f30ff225be2f1fb735987921276c54b	This framework has been used to review @DISEASE$, hypothalamic obesity and dietary @PHENOTYPICFEATURE$.	has_symptom
+77248a18c1467de58b0aed74003d8b5985895760	This new model of @DISEASE$ offers interesting characteristics for the study of @PHENOTYPICFEATURE$.	has_symptom
+a4a85544cf675e4b0c1c951fb731e23d86379c70	In addition, @PHENOTYPICFEATURE$ is different in ethnic groups, and the types of @DISEASE$ differ.	has_symptom
+ffefd7bb62c7d7c98c751dd626f28b502e5cc7b9	Patients with @DISEASE$ may develop early onset of @PHENOTYPICFEATURE$ and severe metabolic abnormalities.	has_symptom
+274b336887d79e99354da0d5f62bda425a870a70	@DISEASE$ is a rare type of @PHENOTYPICFEATURE$ caused by a mutation in a single gene.	has_symptom
+be515e08bbb643a81a6099f0ca7e73b771e64ab1	Mutations in AIPL1 are thought to destabilize PDE6 and thereby cause @DISEASE$ (LCA4), a severe form of childhood @PHENOTYPICFEATURE$.	has_symptom
+680f572ea5f75f1651069ed6b69d89f693c006ec	The presence of an @PHENOTYPICFEATURE$ in @DISEASE$ is indicative of central nervous system involvement, at least in these cases.	has_symptom
+55300018e44650dbab887d8699ccfd943f7eac16	We examined three patients with classic findings of @DISEASE$ (Riley-Day syndrome) whose visual impairment was associated with @PHENOTYPICFEATURE$.	has_symptom
+5f1857a0f00d147de35f567d04dfed4d0e9355c3	We examined three patients with classic findings of familial dysautonomia (@DISEASE$) whose visual impairment was associated with @PHENOTYPICFEATURE$.	has_symptom
+da9b6af7a4378a2ba246ce950a66df1e727f703e	We examined three patients with classic findings of familial dysautonomia (@DISEASE$) whose @PHENOTYPICFEATURE$ was associated with optic atrophy.	false
+e048afb4cd9ca0e2af33fb219aea7d6f5389b4d4	We examined three patients with classic findings of familial dysautonomia (Riley-Day syndrome) whose @PHENOTYPICFEATURE$ was associated with @DISEASE$.	false
+12e932ef4928efca3749f84eafca64b1ba005505	We examined three patients with classic findings of @DISEASE$ (Riley-Day syndrome) whose @PHENOTYPICFEATURE$ was associated with optic atrophy.	false
+6106ad4f4602375629fee1ff3f4bce2790e1e829	Since the life span of patients with @DISEASE$ is increasing, @PHENOTYPICFEATURE$ may be more commonly recognized in the future.	has_symptom
+35a20470ab55572638ce1016ee54f3fc87ee6030	@PHENOTYPICFEATURE$, which is indicative of a CNS disorder, is a rarely described manifestation of @DISEASE$ (Riley-Day syndrome).	has_symptom
+ad98340bd8771106d78abf09931a1e3393eea0c9	@PHENOTYPICFEATURE$, which is indicative of a CNS disorder, is a rarely described manifestation of familial dysautonomia (@DISEASE$).	has_symptom
+0d4a1e7f10492e955893d4bd33530de49955f9ef	We present a man with @DISEASE$ and visual loss resulting from @PHENOTYPICFEATURE$ and visual field defect suggestive of chiasmal pathology.	has_symptom
+7b7f1faa105693efcb7bf3c9d07ffcb13c6d1537	We present a man with @DISEASE$ and @PHENOTYPICFEATURE$ resulting from optic atrophy and visual field defect suggestive of chiasmal pathology.	false
+35ca228bcbeb23aa5b0780b0037c19714cd8c3f3	We present a man with familial dysautonomia and @PHENOTYPICFEATURE$ resulting from @DISEASE$ and visual field defect suggestive of chiasmal pathology.	false
+5a5cfbb624c20b7779755d814a8e8b6733413a44	The possibility of @DISEASE$ should be considered in patients with @PHENOTYPICFEATURE$ and cranial nerves deficits, in order to initiate an appropriate antibiotic therapy and to keep the subject under close monitoring in an intensive care unit.	has_symptom
+3b70cefbe3b3c4c08c1f82ae77530a63954f6d1c	Ovca1/Dph1 (Ovca1)-null mice exhibit multiple developmental defects, including @PHENOTYPICFEATURE$, growth restriction and perinatal lethality, suggesting a role in the craniofacial abnormalities associated with @DISEASE$.	has_symptom
+bc0d777c6cde64b9e6ac4c150e023dd2f7db5260	Malignant @DISEASE$ is a rare autosomal recessive bone disease usually present with short stature, severe anemia, thrombocytopenia, hepatosplenomegaly, and @PHENOTYPICFEATURE$.	has_symptom
+a7c2ec1c05477bccfe7c7282b4ca3ecb3bd9a46f	Malignant osteopetrosis is a rare autosomal recessive bone disease usually present with @PHENOTYPICFEATURE$ @DISEASE$, thrombocytopenia, hepatosplenomegaly, and macrocephaly.	false
+2a3b5e18c44ee77fda5d4b4ce2653977227da845	Malignant osteopetrosis is a rare autosomal recessive bone disease usually present with @PHENOTYPICFEATURE$ anemia, @DISEASE$, hepatosplenomegaly, and macrocephaly.	false
+55ff3f16efc1aed28060acdc6f199c716f5fd32a	Malignant osteopetrosis is a rare autosomal recessive @DISEASE$ usually present with @PHENOTYPICFEATURE$ anemia, thrombocytopenia, hepatosplenomegaly, and macrocephaly.	false
+b83f0b766cc59c154fcd972736e9b916ac1aab8f	@DISEASE$ osteopetrosis is a rare autosomal recessive bone disease usually present with @PHENOTYPICFEATURE$ anemia, thrombocytopenia, hepatosplenomegaly, and macrocephaly.	false
+eeb08e11ba415fd5a0f75d52078cbd668fb904db	Malignant @DISEASE$ is a rare autosomal recessive bone disease usually present with @PHENOTYPICFEATURE$ anemia, thrombocytopenia, hepatosplenomegaly, and macrocephaly.	false
+6088b5b8ea3b0d6f8ed46baa623e2adeb2a8c385	Malignant osteopetrosis is a rare autosomal recessive bone disease usually present with @PHENOTYPICFEATURE$ anemia, thrombocytopenia, hepatosplenomegaly, and @DISEASE$.	false
+dad6e628178bc1183c00cdcf82030ad0ef529b36	Idiopathic membranous nephropathy (IMN, 29.7?%) was the most common NDRD followed by @DISEASE$ (IgAN, 22.9?%), and @PHENOTYPICFEATURE$ renal arteriolar sclerosis was the most common lesion in patients diagnosed as NDRD superimposed on DN.	has_symptom
+49831c29d5f57234b66c06e4aa5bb936cbad1533	These included patients with minimal change disease, membranous nephropathy, lupus nephritis ISN/RPS classes III/IV/V, @PHENOTYPICFEATURE$ nephrosclerosis, crescentic glomerulonephritis, tubulointerstitial fibrosis, @DISEASE$, diabetic kidney disease, and FSGS.	has_symptom
+bd9975c68c49775b685671ba9ed5a834e8956d20	In NDRD alone, FSGS (22%), hypertensive nephrosclerosis (18%), acute tubular necrosis (ATN) (17%), @DISEASE$ (11%), membranous GN (8%), and pauci-immune GN (7%) comprised 80% of diagnoses, compared with ATN (43%), @PHENOTYPICFEATURE$ nephrosclerosis (19%), FSGS (13%), and IgA nephropathy (7%) for DN plus NDRD.	has_symptom
+e496e1a6e726396267aa734a96d7917a75657c24	In NDRD alone, FSGS (22%), hypertensive nephrosclerosis (18%), acute tubular necrosis (ATN) (17%), IgA nephropathy (11%), membranous GN (8%), and pauci-immune GN (7%) comprised 80% of diagnoses, compared with ATN (43%), @PHENOTYPICFEATURE$ nephrosclerosis (19%), FSGS (13%), and @DISEASE$ (7%) for DN plus NDRD.	has_symptom
+9967dc08ce977827e9584dfb13d4fb98659ac9ef	The most common diseases in decreasing order of frequency were @DISEASE$ (15%), membranous nephropathy (12%), thin-basement-membrane nephropathy (8%), minimal change nephropathy (7%), lupus glomerulonephritis (7%), focal sclerosis (6%), @PHENOTYPICFEATURE$ kidney disease and arteriolosclerosis (5%), diabetic nephropathy (5%), and crescentic glomerulonephritis (4%).	has_symptom
+00baee2cd9eac298d5c88b42cc05d416ac50b66e	We recruited 32 CKD patients (20 had @PHENOTYPICFEATURE$ nephrosclerosis, 12 had @DISEASE$).	has_symptom
+3c9f7b7273872f0fe003f8f023373b6690b8e168	Although the clinical course is generally gradual in patients with @DISEASE$, progression to renal @PHENOTYPICFEATURE$, renal anemia, and end-stage kidney disease is not as rare as originally thought.	has_symptom
+9209f2991647fe37ca8a60b0f56dfe3b4d381c2d	Although the clinical course is generally gradual in patients with IgA nephropathy, progression to renal hypertension, renal @PHENOTYPICFEATURE$, and @DISEASE$ is not as rare as originally thought.	false
+cfbbbdbde05a1f71e613b1082c58d51bb5d62420	Although the clinical course is generally gradual in patients with @DISEASE$, progression to renal hypertension, renal @PHENOTYPICFEATURE$, and end-stage kidney disease is not as rare as originally thought.	false
+00db1edc3ad61fa5fb88cb3203fb26fb15d1ad0e	Although the clinical course is generally gradual in patients with IgA nephropathy, progression to renal @DISEASE$, renal @PHENOTYPICFEATURE$, and end-stage kidney disease is not as rare as originally thought.	false
+84e634872a910c1de73a8411f1dcebc49fb18d63	Pauci-immune GN was the most frequent diagnosis (19%), followed by focal segmental glomerulosclerosis secondary to hypertension (7.6%), @PHENOTYPICFEATURE$ nephrosclerosis (7.1%), @DISEASE$ (7.1%) and membranous nephropathy (7.1%).	has_symptom
+99f0929f33194e15d1a75b364b6a1cc60431b772	There were no changes in the frequencies of MCN, MPGN, @DISEASE$, chronic glomerulonephritis, diabetic nephropathy, @PHENOTYPICFEATURE$ nephrosclerosis, or chronic interstitial nephritis over the 20-year period.	has_symptom
+61700b720be2f44134703e776f491c6b5f834c73	@DISEASE$ (MG) is an autoimmune antibody-mediated disease characterized by @PHENOTYPICFEATURE$ and fatigability.	has_symptom
+c4d6c8fb10944bf7e59880240380ed31f6146fc4	@DISEASE$ is an autoimmune disease characterized by @PHENOTYPICFEATURE$ and fatigability.	has_symptom
+93a96283e54c9808b45cc8da8428aa8e9a8e61f7	@DISEASE$ patients developed @PHENOTYPICFEATURE$, associated with neuromuscular transmission failure.	has_symptom
+52b9463f13038dc9a94975d16961688569e4130b	@DISEASE$ (MG) is an autoimmune neuromuscular disease, characterized by @PHENOTYPICFEATURE$ and electrophysiological abnormality.	has_symptom
+c4095910ec2f0a3bffdd380a6d0a139c3e54e85f	@DISEASE$ (MG) is a chronic neuromuscular disease characterized by @PHENOTYPICFEATURE$ and fatigability.	has_symptom
+cf6f40846383a657e1a8850adfcad52bbe8850b7	@DISEASE$ (MG) is an autoimmune disease characterized by @PHENOTYPICFEATURE$ and fatigability.	has_symptom
+fe0767aa32799c3d7300184639b62b40004e2f2f	@DISEASE$ (MG) is a prototypical antibody-mediated disease characterized by @PHENOTYPICFEATURE$ and fatigability.	has_symptom
+685041a6bb06744770449252de792e97d111b686	@DISEASE$ is a chronic neuromuscular disease characterized by @PHENOTYPICFEATURE$ and fatigability.	has_symptom
+4f3e9b2d6ca15601b542c4c26caef77325de5047	Ophthalmoparesis and unilateral finger flexor @PHENOTYPICFEATURE$ in seronegative @DISEASE$.	has_symptom
+d4b7d2cbefb5d7988f28cae30db52107b437b862	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, which is alleviated by rest and by anticholinesterase drugs.	has_symptom
+3d12f327f5e57629548d10f0fcb68c94bac65131	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	has_symptom
+fc1dbc234b79934981e913aae07caa2d7028dcd2	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+0bd9ce7de931de49fbe79394d2090aa7e5f34e74	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+9d43c116536b2c00088efb7d9d6ff20dafe6cb52	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+286e97089197a4f672ee0e7a4487ac6c9cab0cad	Alternating Hemiplegia of Childhood (AHC), Rapid-onset @DISEASE$ Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+5e5c83cf37b7c41727350229af525a77003f7415	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+010fafdfa5a7f37d323aab12f871f0fed635e602	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+9cd25bb01eb4d4075527fa662c5460ee7f8b456d	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and @DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+1665825ca46b27a22eb9f16a5e32b314542801ed	Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (@DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+98cc7d3988f735c0652cbc17415dc36803fca5bc	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (@DISEASE$).	has_symptom
+8e7229adfdbfb8c116ac28bca3acca78206ff551	ATPase) are associated with rapid-onset @DISEASE$-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS syndrome).	false
+057c0ee0f032b3516873da4664a700574149ada9	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS syndrome).	false
+0fe385fe9919da2d0fff07241f5325936fbcd92b	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+8026bd16845de2e40468602950699ef70b53e853	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (@DISEASE$).	false
+407a7cbe76f6c85291072fb056bc918881c51ee6	ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and @DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss (CAPOS syndrome).	false
+5eea251a643ea7f9d1fd14c08be2ca068663c3a6	ATPase) are associated with rapid-onset @DISEASE$-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$ (CAPOS syndrome).	false
+2194d2ab53908e47a65f65288047bc149edbaf8c	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, @PHENOTYPICFEATURE$ encephalopathy and impairment of vision and hearing in @DISEASE$ and late onset of dystonia/parkinsonism in RDP.	has_symptom
+19f720efe8f304e1517b4e55c6d23a411c999c7e	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of @DISEASE$/parkinsonism in RDP.	false
+8224ba042e478668a56c807a3b5d20aa5ced583b	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in @DISEASE$ and late onset of dystonia/parkinsonism in RDP.	false
+4809d3e4a7493265cd7cd5be9e54e011978a2086	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/@DISEASE$ episodes and mental decline in AHC, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+c7e94ac3d9bb8350787ae338d0774f67cabb3277	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in @DISEASE$, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+453e992726fd5fa49518ab9aaeec799cdbccc697	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in AHC, @DISEASE$ @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+8e03deb8ffb61290c318f0c73bb13f5866168373	@DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	has_symptom
+41efdfcab1661dbe7608341457418ae8ec48de5f	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare disease that has been reported in 22 patients so far.	false
+4d59a2201f9d4989fee5537c6626a6d45bfe9d76	CAPOS syndrome (@DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare disease that has been reported in 22 patients so far.	false
+d174591476d6265f0b3c0e3da87f04842f96f9eb	CAPOS syndrome (@DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	false
+2a546045507fccb6d28ac909d401a9591a25a134	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far.	false
+40740361d190f6df0aa48ba29a0deb739c748e93	Fever-related @PHENOTYPICFEATURE$: a case report of @DISEASE$.	has_symptom
+802334f55c47cbbdd1a2d80769928fa9633d3db3	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (@PHENOTYPICFEATURE$, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss).	has_symptom
+a9a72a4cadd6f7180fc4f88e7c5ee273365414b6	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+a358c8ef6cba23586023f1c23f67e207457f260c	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@DISEASE$, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+a6b5fd3d9efbd036a3ec26a3b97134083a695594	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+e500255c78fdedaf8bed09e0230bf4ade2944386	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+e73b38c3b8e69c5b233e6764b375bd0b570e9f01	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (@DISEASE$, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+e45ac54a64cd78d24e86c16ace2d5ad7333630f6	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+a667f647668cdcea394fb50f6531227cfbe3d14e	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and @DISEASE$ (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+9863696873ec5ca1fe7da1e53e0e03b3b2120ece	ATP1A3-related disorders include rapid-onset @DISEASE$-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+cf0a2d6551f1662e15cc0e4290d17ae986316e84	Similar to some other types of episodic ataxia, acetazolamide may be considered in patients with @DISEASE$ to prevent or attenuate bouts of @PHENOTYPICFEATURE$, but this requires further study.	has_symptom
+40ece53e3a401308b4d23bf11add50fa881512b2	The combination of recurrent episodes of fever related @PHENOTYPICFEATURE$, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of @DISEASE$.	has_symptom
+0340ae60fb75c1fd7179c9dbbc4791a4483c086e	The combination of recurrent episodes of @PHENOTYPICFEATURE$ related ataxia, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of @DISEASE$.	false
+7341b92f0c1f4d9a664686e67c9990af5f9c9182	The combination of recurrent episodes of @PHENOTYPICFEATURE$ related @DISEASE$, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of CAPOS syndrome.	false
+eac58339cbc2b9feebcc261031829915691694a2	@DISEASE$ (@PHENOTYPICFEATURE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	has_symptom
+bcc51ef0122de13306404eabd2aec262c4e5a718	CAPOS syndrome (@DISEASE$, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	false
+3a945a95681c0948a01714c0517cddd2134c5696	CAPOS syndrome (@DISEASE$, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+ec3fc8cbd53b15bd169235b6e784d291c1f75ed2	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+480ec8d434f40c89e2621b092384fadad5ec86fe	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+117983232ad7dbb58631895d708f1b74aa0f29cc	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	false
+f160afaed66e8c1976815caf258ebc11005e522a	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+189b60f3ba8659316ab9410329869c04773b138f	CAPOS syndrome (@DISEASE$, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+d0b5c3fa5164a6fd1fbe4762505a74de6036b066	@DISEASE$ (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with @PHENOTYPICFEATURE$ as a prominent feature.	false
+7d4ec8eecb1a8b64cf45e24905bce7b1eb072ce4	CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) is a rare @DISEASE$, recently associated with the c.2452G?>?A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature.	false
+ded9f191463fe4fe1d510e090fc09b1f2e33b66c	@DISEASE$ (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe retinal degeneration, and variably present @PHENOTYPICFEATURE$, assigned to 3q21-q25.	has_symptom
+ff319372a95f922966d1ee75d50cd42c9074c96d	Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe @PHENOTYPICFEATURE$, and variably present @DISEASE$, assigned to 3q21-q25.	false
+ce0f4185f5bfadce485b07e6e63083c52ea6ee30	Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive @DISEASE$, severe @PHENOTYPICFEATURE$, and variably present vestibular dysfunction, assigned to 3q21-q25.	false
+dc0bc67d2cf69398ef596755e4596cdffd947cba	@DISEASE$ (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe @PHENOTYPICFEATURE$, and variably present vestibular dysfunction, assigned to 3q21-q25.	false
+cacffc93f3a51cd6a38aa4c7d33c6913eea428a9	@DISEASE$ (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of @PHENOTYPICFEATURE$.	has_symptom
+861254fde125037256af71e89d6ab5bf2c6dd68c	The clinical course was characterized by @DISEASE$, irritability and psychomotor retardation, with subsequent seizures and @PHENOTYPICFEATURE$.	has_symptom
+3396212c3573f12a6ce376658790a3bb1177b9de	The clinical course was characterized by @DISEASE$, irritability and psychomotor retardation, with subsequent @PHENOTYPICFEATURE$ and spasticity.	false
+fb9637476e6121ac4f7449b01d4a2592c9b8b94d	The clinical course was characterized by hydrocephalus, irritability and psychomotor retardation, with subsequent @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c6676b10a3a18f222cab2b7e6a44702293e6a006	Optic atrophy, tuberculoma, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, hearing impairment, vasculitis and mortality outcomes were compared.	has_symptom
+830926ae75c8ab36bbac2716520e20b809dfd36d	Optic atrophy, tuberculoma, @DISEASE$, @PHENOTYPICFEATURE$, spasticity, hearing impairment, vasculitis and mortality outcomes were compared.	false
+aaf37d0571cf0d321899c586f9adb7380125115a	Optic atrophy, @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, spasticity, hearing impairment, vasculitis and mortality outcomes were compared.	false
+c8002b414b1040e80354bcbbfa5ff00f75c47865	Optic atrophy, tuberculoma, hydrocephalus, @PHENOTYPICFEATURE$, spasticity, hearing impairment, @DISEASE$ and mortality outcomes were compared.	false
+af56a08196c04a676572526b36786959d42635e9	@PHENOTYPICFEATURE$, @DISEASE$, hydrocephalus, mental retardation, spasticity, hearing impairment, vasculitis and mortality outcomes were compared.	false
+c384aede0eed42d578746e34adfb5ec99b3645e2	Optic atrophy, tuberculoma, hydrocephalus, @PHENOTYPICFEATURE$, @DISEASE$, hearing impairment, vasculitis and mortality outcomes were compared.	false
+c0b9927a86459a0addb90af3a834964412c3dc3c	@PHENOTYPICFEATURE$, tuberculoma, @DISEASE$, mental retardation, spasticity, hearing impairment, vasculitis and mortality outcomes were compared.	false
+3293c4d05d334ffa22b242c19481de486f0cab54	Optic atrophy, tuberculoma, @DISEASE$, mental retardation, spasticity, @PHENOTYPICFEATURE$, vasculitis and mortality outcomes were compared.	false
+722e16a98c2c8c8001241cfc72e35eb83e5ed673	Optic atrophy, @DISEASE$, hydrocephalus, mental retardation, spasticity, @PHENOTYPICFEATURE$, vasculitis and mortality outcomes were compared.	false
+adcc7b6af6fb5366f605d4ab63cfd783ae1a14b3	@PHENOTYPICFEATURE$, tuberculoma, hydrocephalus, mental retardation, @DISEASE$, hearing impairment, vasculitis and mortality outcomes were compared.	false
+c2402f29551f6fcd00d1b82c2b9556e95f7a2409	Optic atrophy, tuberculoma, hydrocephalus, mental retardation, spasticity, @PHENOTYPICFEATURE$, @DISEASE$ and mortality outcomes were compared.	false
+d5d4a464c4cabcfe4481ff78cba3f03e4322a5ea	Optic atrophy, tuberculoma, hydrocephalus, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, vasculitis and mortality outcomes were compared.	false
+c0f27fe25d8dfbfeb57079950fab0c48cb7df04d	@PHENOTYPICFEATURE$, tuberculoma, hydrocephalus, mental retardation, spasticity, hearing impairment, @DISEASE$ and mortality outcomes were compared.	false
+87749658d9ce56c04153d84dd4c01bf212ecca6b	L1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by @DISEASE$, intellectual disability, adducted thumbs and @PHENOTYPICFEATURE$ of the legs.	has_symptom
+66d45a847163a606078d5ac2f25be678f1d58cf1	L1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs and @DISEASE$ of the legs.	false
+a72b3305de2bc4803a0b7ca0b2263c2653dc48c2	L1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by @DISEASE$, @PHENOTYPICFEATURE$, adducted thumbs and spasticity of the legs.	false
+d0004b3ba7b46e09a81ecd6515c8ffab9c765957	She presented with macrocephaly, psychomotor retardation, @PHENOTYPICFEATURE$, a seizure disorder, and @DISEASE$.	has_symptom
+76117d545dfd698a5853648885daa4ac388f1fc6	She presented with @PHENOTYPICFEATURE$, psychomotor retardation, spasticity, a seizure disorder, and @DISEASE$.	false
+41c103e962a8f18aa60a1e0976b75a6678459ed9	She presented with @PHENOTYPICFEATURE$, psychomotor retardation, spasticity, a @DISEASE$, and hydrocephalus.	false
+288b50c63ea2572907f52e491853e9fe47405e86	She presented with @PHENOTYPICFEATURE$, psychomotor retardation, @DISEASE$, a seizure disorder, and hydrocephalus.	false
+7b6a5be7bb170f64db01e223156006ddf5e58edb	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes corpus callosum agenesis, mental retardation, adducted thumbs, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+5f7d97dc5086e406a65e482fa90a9c601ba53546	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological @DISEASE$ termed CRASH, which includes @PHENOTYPICFEATURE$, mental retardation, adducted thumbs, spasticity, and hydrocephalus.	false
+cd891b5bdfed9cb6b9f8bbb075806edf137eb5b5	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes @PHENOTYPICFEATURE$, mental retardation, adducted thumbs, @DISEASE$, and hydrocephalus.	false
+c5cf3f92ceae5e4bd4bda72fbbe14da43b87ba64	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes @PHENOTYPICFEATURE$, mental retardation, adducted thumbs, spasticity, and @DISEASE$.	false
+d9f8be2d80e148a4bdd1f2f65678515dfb54933c	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological @DISEASE$ termed CRASH, which includes corpus callosum agenesis, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, and hydrocephalus.	false
+26e2e0e95b7957e4804f466aa0d41dbb5a94fe40	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes corpus callosum agenesis, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, and @DISEASE$.	false
+de75e3e13149b6b2a0f02275d531bc7f29aee5f2	In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes corpus callosum agenesis, @PHENOTYPICFEATURE$, adducted thumbs, @DISEASE$, and hydrocephalus.	false
+7d54102a11074b75873c429bfd58baec064d7d12	One hundred twelve (49.6%) of 226 mice developed clinical manifestations of @DISEASE$, characterized by dorsal doming of the calvaria, @PHENOTYPICFEATURE$, limb tremors, ataxia, and, ultimately, death.	has_symptom
+8ebd7045a2c58cf2048c60febba192a6a0380216	One hundred twelve (49.6%) of 226 mice developed clinical manifestations of hydrocephalus, characterized by dorsal doming of the calvaria, @DISEASE$, limb tremors, @PHENOTYPICFEATURE$, and, ultimately, death.	false
+f31ff4a4b49b7f3452e70b200230306d24c5df2e	One hundred twelve (49.6%) of 226 mice developed clinical manifestations of @DISEASE$, characterized by dorsal doming of the calvaria, spasticity, limb tremors, @PHENOTYPICFEATURE$, and, ultimately, death.	false
+24db4bcf36be419b8908eda5b8eab886fa150908	No infant developed @DISEASE$ and only one infant had @PHENOTYPICFEATURE$.	has_symptom
+70ef8ad5f729d55a14a113ba86bae65b66d19e46	The pooled prevalence of hearing loss, seizures, @DISEASE$, @PHENOTYPICFEATURE$/paresis, cranial nerve palsies and visual impairment was 20.9% (17.1-24.7%),	has_symptom
+34079da8b4bc2c5de15836dbf1cc3bba4dc4f408	The pooled prevalence of hearing loss, seizures, @DISEASE$, spasticity/paresis, cranial nerve palsies and @PHENOTYPICFEATURE$ was 20.9% (17.1-24.7%),	false
+7e3fca7fc127749f7e205a42f5c186dc07d6c573	The pooled prevalence of hearing loss, seizures, hydrocephalus, @DISEASE$/paresis, cranial nerve palsies and @PHENOTYPICFEATURE$ was 20.9% (17.1-24.7%),	false
+8e4b0f261a9448321a04d9f3530d047cf52ff84d	The pooled prevalence of hearing loss, @PHENOTYPICFEATURE$, hydrocephalus, @DISEASE$/paresis, cranial nerve palsies and visual impairment was 20.9% (17.1-24.7%),	false
+9a3c7ace993639065030074a936e2f69aa59a625	The pooled prevalence of @DISEASE$, seizures, hydrocephalus, spasticity/paresis, cranial nerve palsies and @PHENOTYPICFEATURE$ was 20.9% (17.1-24.7%),	false
+55f30f995daf15f81f935fc24ff22f48950c8756	The pooled prevalence of hearing loss, @PHENOTYPICFEATURE$, @DISEASE$, spasticity/paresis, cranial nerve palsies and visual impairment was 20.9% (17.1-24.7%),	false
+ad5111d0bf49c7fe34dc719aa2728cd613e680f8	The pooled prevalence of @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus, spasticity/paresis, cranial nerve palsies and visual impairment was 20.9% (17.1-24.7%),	false
+03561874b218f94154388d47e7bfdf1ef77776f8	SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and @DISEASE$).	has_symptom
+7c987e2d1f640d5d54701800414865efbd6b6cd9	The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), @PHENOTYPICFEATURE$ (22.2%), and @DISEASE$ (11.1%).	has_symptom
+7b77e5a5e290faa2ee3a79e94ad17afd603e1f2c	The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), @PHENOTYPICFEATURE$ (33.3%), @DISEASE$ (22.2%), and hydrocephalus (11.1%).	false
+2e2fd90eed34774177607737d068799367766c42	The permanent neurological sequelaes were hemiparesis (44.4%), @PHENOTYPICFEATURE$ (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), @DISEASE$ (22.2%), and hydrocephalus (11.1%).	false
+889a2584defbac39aa2c38c04d8c795121b4df35	The permanent neurological sequelaes were hemiparesis (44.4%), @PHENOTYPICFEATURE$ (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), spasticity (22.2%), and @DISEASE$ (11.1%).	false
+b6a157e23746e0c909e44b4921616d21020a8211	The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), @PHENOTYPICFEATURE$ (33.3%), spasticity (22.2%), and @DISEASE$ (11.1%).	false
+bf4442103aab00665a95764895ba75961861ff51	Patients with @DISEASE$ (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, @PHENOTYPICFEATURE$, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement.	has_symptom
+8cfc406caaf7b08c42b4f2654c7f9831c5b018c8	Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, @DISEASE$, nystagmus, and @PHENOTYPICFEATURE$ and variably associated with dysmorphism, as well as retinal and renal involvement.	false
+018c754fe4b72d75c2565a21f4895225b422e2aa	Patients with Joubert syndrome 2 (JBTS2) suffer from a @DISEASE$ manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and @PHENOTYPICFEATURE$ and variably associated with dysmorphism, as well as retinal and renal involvement.	false
+eec46fa9d27131056f6c1d1476b8a98d9b0b845d	Patients with @DISEASE$ (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and @PHENOTYPICFEATURE$ and variably associated with dysmorphism, as well as retinal and renal involvement.	false
+1888a3af08bc6d2c22571f7696231f8f5e6404b9	@DISEASE$ (MCPH) is a rare neurological disorder, in which the patients exhibit reduced occipital frontal head circumference (>3 standard deviations) and mild-to-@PHENOTYPICFEATURE$.	has_symptom
+8cc514499b3426abef59e8df61d0d386fc530ec9	The ocular and other clinical features of @DISEASE$ are identical to those seen in X-linked disease, while retinopathy and @PHENOTYPICFEATURE$ are the only ocular abnormalities described in the rare autosomal dominant form of Alport syndrome.	has_symptom
+bf972c35231fe62df22f57610fce3b9359aeb476	@DISEASE$ (PTPR) is a recently recognized and rare pineal tumor, presenting as a solitary mass with or without @PHENOTYPICFEATURE$.	has_symptom
+642bfa1737a066def189ea0da8fcfff07452a1f4	We describe 2 patients diagnosed with @DISEASE$ by stereotactic biopsy and referred for Gamma Knife radiosurgery after shunting for @PHENOTYPICFEATURE$.	has_symptom
+276fcc62c6161fb13a47da2553b0758c026eee7f	@DISEASE$ (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized @PHENOTYPICFEATURE$, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies.	has_symptom
+7e6e79e70c3be40e8f2fd0bd635cee2e0a3e0c6e	@DISEASE$ (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, @PHENOTYPICFEATURE$, and typical facial anomalies.	false
+c545251227a4448b2e4fca8e8c5496ce045cc01c	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple @DISEASE$ disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, @PHENOTYPICFEATURE$, and typical facial anomalies.	false
+f9e7afbfc6b08943d6c18fab6e8ab64dba79aca1	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized @DISEASE$, mild mental retardation, hearing loss, @PHENOTYPICFEATURE$, and typical facial anomalies.	false
+64f0f85b59d97e120d35f53f81a563b943bfdb1b	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and typical facial anomalies.	false
+3e14b264e26c27f3b76fa2d6f8e906985fe7bef5	Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, @PHENOTYPICFEATURE$, and typical @DISEASE$ anomalies.	false
+65d371e1f2df57c06e535cbd5bf032f087eed97c	Establishment of an induced pluripotent stem cell line ZZUi003-A from a 65-year-old male with @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+d20f0935448d4a83de9d7fa681600147606434b3	Recently, the association of a single nucleotide polymorphism rs6812193 C/T with @PHENOTYPICFEATURE$ @DISEASE$ (PD) susceptibility has been widely evaluated, but the results remained inconsistent.	has_symptom
+54b3d65ac07f22f5b4566dc5a2f5257517de468d	Skin fibroblasts were collected from a 65-year-old male patient with @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+a1f85d00a66022eb510e7aebda4b1c40f36a26fd	@DISEASE$ (PD) is the second most common neurodegenerative disease, with a strong genetic component to both the familial and @PHENOTYPICFEATURE$ forms.	has_symptom
+9e2b0eb74adef77e2521b8c4ecf1cd1b13a4428d	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, @DISEASE$ (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	has_symptom
+5f04b78209129f4ffc0334f06881816bce99528b	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (@DISEASE$), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	has_symptom
+2b103b4b149db643349f5488622bf321cab4e143	Five patients with @DISEASE$, one of whom also had @PHENOTYPICFEATURE$, became symptomatic during infancy.	has_symptom
+5ba3840c12fa7696b2dc6505e706f0779e0e9d46	Acquired obstructive @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f2d7f4a19596c6440a23165c4967b134c8b9b498	Acquired obstructive @PHENOTYPICFEATURE$ has developed rarely in patients with @DISEASE$.	has_symptom
+43d4177f8ddb3d921b8ec1e0b6e3d1016e1f6ff5	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$ and vesico-ureteral reflux.	has_symptom
+49a759b3d8f1817666b94f47805b544771df71d0	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, @PHENOTYPICFEATURE$, @DISEASE$ and vesico-ureteral reflux.	false
+f34737b38d4b6c53f8fad0bd4591cf0125649d3a	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss and vesico-ureteral reflux.	false
+a9e98b87e70c5e00d62879e6a3297b1d02d5ba61	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, @DISEASE$, hypopituitarism, @PHENOTYPICFEATURE$, sensorineural hearing loss and vesico-ureteral reflux.	false
+933a1a887d200b1f6df58ed360277b9d5d66edd6	In addition to the characteristic facial features, associated conditions include @DISEASE$, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, @PHENOTYPICFEATURE$, sensorineural hearing loss and vesico-ureteral reflux.	false
+46a0a98ce29cb28bdce422df70a70cf474d6c621	In addition to the characteristic @DISEASE$ features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, @PHENOTYPICFEATURE$, sensorineural hearing loss and vesico-ureteral reflux.	false
+6f1d7676b239b378ba7f15a9cefd06f3da5c3528	Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, @PHENOTYPICFEATURE$, myopathy, ataxia, combined @DISEASE$, associated with mitochondrial impairment.	has_symptom
+707634e4ac5a886b6ebbb251609476d2e88bd412	Here we report on a singleton patient affected by a complicated congenital @DISEASE$ characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, @PHENOTYPICFEATURE$, combined pituitary hormone deficiency, associated with mitochondrial impairment.	false
+71c5c9db3188cc528df0a7ddbafae246dc5664ca	Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, @DISEASE$, sensorineural deafness, myopathy, @PHENOTYPICFEATURE$, combined pituitary hormone deficiency, associated with mitochondrial impairment.	false
+a955080a29392812b0b5ad514c7b604231633f48	Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, combined pituitary hormone deficiency, associated with mitochondrial impairment.	false
+b340d56a7c1e2199e36ddd4c057902b851851577	Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, @DISEASE$, myopathy, @PHENOTYPICFEATURE$, combined pituitary hormone deficiency, associated with mitochondrial impairment.	false
+8dd888999a44315fcdd417e206055ebbc61f9bd0	Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, @PHENOTYPICFEATURE$, combined @DISEASE$, associated with mitochondrial impairment.	false
+9d7b7edaacf406eb4190044b030aa632ac741e2a	Two novel LHX3 mutations in patients with combined @DISEASE$ including cervical rigidity and @PHENOTYPICFEATURE$.	has_symptom
+e32c8c850eafc5dc7079136aef32095128ffcb5b	Novel mutations in LHX3 are associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+2ea1d0af9687b24a72f963ae49e8f03fa380115c	A novel mutation of LHX3 is associated with combined @DISEASE$ including ACTH deficiency, @PHENOTYPICFEATURE$, and short neck-a case report and review of the literature.	has_symptom
+2f6ee62cba5fa8132f9e433ea53ee0d5ae04d54c	Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined @DISEASE$, psychomotor developmental delay, severe intellectual disability, @PHENOTYPICFEATURE$, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows.	has_symptom
+94e781da54850e461b2d2e6bf5ae8e31359d29af	Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined pituitary hormone deficiency, psychomotor developmental delay, severe @PHENOTYPICFEATURE$, @DISEASE$, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows.	false
+063db65ac1b2a2d3c0abce35800e506cfa527298	Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined @DISEASE$, psychomotor developmental delay, severe @PHENOTYPICFEATURE$, sensorineural hearing loss, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows.	false
+ba8f0ee7a0227e9560518780699b0685f760b760	Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined @DISEASE$, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, and characteristic facial features, including a broad forehead, @PHENOTYPICFEATURE$, and arched eyebrows.	false
+37202ef460044a44796577924289587c670309eb	Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, @DISEASE$, strabismus, and characteristic facial features, including a broad forehead, @PHENOTYPICFEATURE$, and arched eyebrows.	false
+fdf159cf8781f3f31812c543a83cb045d3959cdb	We report a novel LHX3 mutation, which is associated with combined @DISEASE$ including ACTH deficiency, short neck, and @PHENOTYPICFEATURE$.	has_symptom
+84025b77cfac2811ec1b29718bd824e7d97cd9eb	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined @DISEASE$), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	has_symptom
+f8d6996e3ea37e9c3d5e0c3b2750da574499e8da	@DISEASE$ (SDS) results from mutations in the SBDS gene, characterized by exocrine pancreatic insufficiency and hematologic and @PHENOTYPICFEATURE$.	has_symptom
+f247e561af124f67a0c3859bb7d8a90ec09bdfb9	@DISEASE$ (OMIM 260400) is a multisystemic disorder characterized by pancreatic insufficiency, bone marrow dysfunction, @PHENOTYPICFEATURE$ and immune dysfunction.	has_symptom
+ededd2464ca320ba1558c121f0b92cf438d0a699	@DISEASE$ (SDS) is characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ and hematological dysfunction.	has_symptom
+39bb70eb2eac8dde2742396f6483c6e086370f27	Impaired osteoclast formation could disrupt bone homeostasis, resulting in @PHENOTYPICFEATURE$ seen in @DISEASE$ patients.	has_symptom
+36044b7a5d724eb477575104f1b51ba891a53d81	Mutations in SBDS are responsible for Shwachman-Diamond syndrome (@DISEASE$), a disorder with clinical features of exocrine pancreatic insufficiency, bone marrow failure, and @PHENOTYPICFEATURE$.	has_symptom
+9a88f7caf6b9290efa0b94d775d7e2dfff90882c	Mutations in SBDS are responsible for @DISEASE$ (SDS), a disorder with clinical features of exocrine pancreatic insufficiency, bone marrow failure, and @PHENOTYPICFEATURE$.	has_symptom
+b11efcfd013d9e1f0af751ccb2ca1294f65e509c	@DISEASE$ is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and @PHENOTYPICFEATURE$.	has_symptom
+4f532200249cb7402a3eff80ea950fcdfe9682fc	@DISEASE$ (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and @PHENOTYPICFEATURE$.	has_symptom
+cb4a84fb826ee43ca9c9ea23cd364bec3ed5b343	The @DISEASE$ (SDS) is characterized by exocrine pancreatic insufficiency, neutrophil defect, and @PHENOTYPICFEATURE$.	has_symptom
+8c7c87519d474b46272deed0ecee25988ed9e461	@DISEASE$ (SDS) is an autosomal recessive disorder characterised by exocrine pancreatic dysfunction, haematological and @PHENOTYPICFEATURE$.	has_symptom
+92cce75b0bbcfc15c8977d40f932f33385b04339	@DISEASE$ (SDS) is a rare inherited bone marrow failure syndrome, characterised by neutropenia, exocrine pancreatic dysfunction and often @PHENOTYPICFEATURE$.	has_symptom
+4a52acaba528566e4f728e995f4a47d2af629867	Pronounced @PHENOTYPICFEATURE$ in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, @DISEASE$) and growth hormone deficiency.	has_symptom
+c115bfa0762bb190f5b47ea6a5c4099f415165f5	@DISEASE$ presenting with @PHENOTYPICFEATURE$ in a child.	has_symptom
+6f9a397417290e8b04dfee498f9abcc45c645dca	We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and @PHENOTYPICFEATURE$), and appendicular exostoses similar to @DISEASE$.	has_symptom
+22687f4d049c835c36343c51984328a5bc2a87bc	An 8-year-old boy with the features of @DISEASE$ except for @PHENOTYPICFEATURE$ is described.	has_symptom
+b069d7934a02bc37780529e51e8a952091a72227	We report on a 26-year-old woman with @PHENOTYPICFEATURE$, typical facial features of @DISEASE$, exophthalmos, contractures of elbow and knee joints, severe muscular hypotonia, no ability to walk, and no speech development.	has_symptom
+9829d77b18ebe89156caae2a2522799dd67ac799	Numerous Kv1.1 mutations have been associated with the human disorder @DISEASE$ (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of @PHENOTYPICFEATURE$.	has_symptom
+ae5b6e92f2064976411220988b97d3e8325785b3	Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced @PHENOTYPICFEATURE$, myokymia, and increased prevalence of @DISEASE$.	false
+94e034d5f84c934f5e6a30092bdaf73b560ea51e	Numerous Kv1.1 mutations have been associated with the human disorder @DISEASE$ (EA1), characterized by stress-induced @PHENOTYPICFEATURE$, myokymia, and increased prevalence of seizures.	false
+4ea839d8dbeeea3de6be47a88b480a064c886bd8	A 21-year-old woman without any stigmata of @DISEASE$ presented with intractable @PHENOTYPICFEATURE$ since 10 years.	has_symptom
+112ec505aa24572a19211c5f67ef0caa81ff66da	Intracranial calcification and @PHENOTYPICFEATURE$: a case of @DISEASE$.	has_symptom
+7810f62b35aac774c21361f8b820ba2b93ae671d	@PHENOTYPICFEATURE$ and seizures: a case of @DISEASE$.	false
+567ba062f292e7c52dc64f82bc8fce2a3acae5f5	@PHENOTYPICFEATURE$ and @DISEASE$: a case of central neurofibromatosis.	false
+c6353f6f224ec2cc6eddae102fc68ff29afc34f6	A 17-year-old boy with @PHENOTYPICFEATURE$ due to meningio-angiomatosis without @DISEASE$ is presented.	has_symptom
+1a8c74b4cbb840813ca0af8dbe6505ec0fbefbab	@DISEASE$ consists of diffuse cerebral degeneration manifested as developmental delay, seizures, @PHENOTYPICFEATURE$, and progressive neuromuscular deterioration, with liver disease and death.	has_symptom
+8f357aaea92378be67a455dda49721778484d1ee	Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, @PHENOTYPICFEATURE$, vomiting, and progressive neuromuscular deterioration, with @DISEASE$ and death.	false
+861bb6dc4f8cecd6b676a9bfa57c5db211567ca7	@DISEASE$ consists of diffuse @PHENOTYPICFEATURE$ manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death.	false
+87ba9152ad06cda8e53844224ed09b4bc95c3c15	Alpers disease consists of diffuse @PHENOTYPICFEATURE$ manifested as developmental delay, seizures, @DISEASE$, and progressive neuromuscular deterioration, with liver disease and death.	false
+fddfca8206346ca8aa2a3bfbe917e3e52a7dfeaa	Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, and progressive neuromuscular deterioration, with liver disease and death.	false
+f6e6c624120f3ee66dc5c0223c50febfd3b435ca	Alpers disease consists of diffuse @PHENOTYPICFEATURE$ manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with @DISEASE$ and death.	false
+d973764e90b3794a8c6a760f1785860ac17f0e7f	@DISEASE$ consists of diffuse cerebral degeneration manifested as developmental delay, @PHENOTYPICFEATURE$, vomiting, and progressive neuromuscular deterioration, with liver disease and death.	false
+c4befcb1dd3cdab23513398ef430aa708f589812	We report three cases of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+6a346dbcdbaf5596f969c7389e432972e69f9cb2	Although @PHENOTYPICFEATURE$ is common in @DISEASE$ there are contradicting reports regarding the cause of this hearing loss.	has_symptom
+fb0c71429c7ff8fc59fbd25ba2d6426fdeb6bf5f	@DISEASE$ is one of the craniosynostosis syndromes and is commonly associated with @PHENOTYPICFEATURE$, but there are contradicting reports regarding the cause.	has_symptom
+304652b00b8bcd26bdb0b83a697aae703116e120	Acrocephalosyndactyly (@DISEASE$) is a rare craniosynostotic syndrome characterized by acrocephaly, syndactyly of the hands and feet, and--occasionally--@PHENOTYPICFEATURE$.	has_symptom
+b15c84cf8c55288c575de6c9f3bfc640cce4a65c	Acrocephalosyndactyly (Apert syndrome) is a rare craniosynostotic syndrome characterized by acrocephaly, @PHENOTYPICFEATURE$ of the hands and feet, and--occasionally--@DISEASE$.	false
+2404eacd0d4e92f69e69dbf4a19f3db009f51b99	Acrocephalosyndactyly (@DISEASE$) is a rare craniosynostotic syndrome characterized by acrocephaly, @PHENOTYPICFEATURE$ of the hands and feet, and--occasionally--conductive hearing loss.	false
+a2919054f4357e76e02260659558a7c07b7c34fb	Acrocephalosyndactyly (Apert syndrome) is a rare craniosynostotic @DISEASE$ characterized by acrocephaly, @PHENOTYPICFEATURE$ of the hands and feet, and--occasionally--conductive hearing loss.	false
+15d8001fd469bb432bf7813e11c0fc0081803fb6	To identify the occurrence of inner ear structural anomalies and @PHENOTYPICFEATURE$ (CHL) in children with @DISEASE$.	has_symptom
+34080f612eefd8b9fee06e175eb83566be2a6df1	Inner ear anomalies and @PHENOTYPICFEATURE$ in children with @DISEASE$: an overlooked otologic aspect.	has_symptom
+92777432c3633fd847b8fbf6aab07b1d82dba007	Inner @PHENOTYPICFEATURE$ and conductive hearing loss in children with @DISEASE$: an overlooked otologic aspect.	false
+9dc8fe5e6e5ca29aa92d2b9ccc99a274c413f6ab	Inner @PHENOTYPICFEATURE$ and @DISEASE$ in children with Apert syndrome: an overlooked otologic aspect.	false
+1029fe120c8be0aac88bb4fab3abf3f63af1c014	Twelve women (16%) had a history of chronic renal disease or @PHENOTYPICFEATURE$, and 36 women (50%) had @DISEASE$ and 23 (32%) abruptio placentae.	has_symptom
+024511a79cdd012336bd5ed0547bbc9cc5707afb	@DISEASE$ and 2 (familial periodic @PHENOTYPICFEATURE$/vertigo).	has_symptom
+c57b365d9579036756e15a4df56099e49669a582	@DISEASE$ (EA1) is characterized by brief episodes of @PHENOTYPICFEATURE$ and dysarthria, and interictal myokymia.	has_symptom
+c39307b5270207310b6e78e21cdf49928cf75f5d	@DISEASE$ (EA1) is an autosomal dominant disorder characterized by continuous myokymia and episodic attacks of @PHENOTYPICFEATURE$.	has_symptom
+8ef8f466bf2d7d589793ff1283f04c8764b1abbb	@DISEASE$ (EA1) is a dominant human neurological disorder characterized by stress-induced attacks of @PHENOTYPICFEATURE$.	has_symptom
+805ac8c1a25a96c6fd93bbd59e18fce2fa6367f1	@DISEASE$ (EA1) is a rare autosomal dominant disorder characterized by brief episodes of @PHENOTYPICFEATURE$ associated with continuous interattack myokymia.	has_symptom
+94e034d5f84c934f5e6a30092bdaf73b560ea51e	Numerous Kv1.1 mutations have been associated with the human disorder @DISEASE$ (EA1), characterized by stress-induced @PHENOTYPICFEATURE$, myokymia, and increased prevalence of seizures.	has_symptom
+9829d77b18ebe89156caae2a2522799dd67ac799	Numerous Kv1.1 mutations have been associated with the human disorder @DISEASE$ (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of @PHENOTYPICFEATURE$.	false
+ee772e69fa31a0287716d1cd3608aff452eb28a6	Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced @DISEASE$, myokymia, and increased prevalence of @PHENOTYPICFEATURE$.	false
+12310fa33b453c122187a9c5db9c758744c27028	These include the human disorders of @DISEASE$, long QT syndrome and Bartter's syndrome, and weaver @PHENOTYPICFEATURE$ in mice.	has_symptom
+9e6cc2c2dbc151d40c5e93d3419f4475d89fc056	His mother presented some years later with typical features of @DISEASE$ (EA1), with episodes of @PHENOTYPICFEATURE$ lasting a few minutes provoked by exercise.	has_symptom
+94ba9cfc7aee9b01dfebfea86cc93dab298b9a6c	@DISEASE$ is an autosomal dominant disorder characterized by episodes of @PHENOTYPICFEATURE$ and myokymia.	has_symptom
+a1f6ad02963ae65bdb413a64851ddaf2b98f3e38	@DISEASE$ (EA1) is characterized by brief episodes of @PHENOTYPICFEATURE$, typically lasting seconds, and interictal myokymia, while episodic ataxia type 2 (EA2) is manifested by longer episodes of ataxia (hours) with interictal nystagmus.	has_symptom
+999f10bcf35c793c2cd31c5f14fc5019ae449bb7	@DISEASE$ (EA1) is characterized by brief episodes of ataxia, typically lasting seconds, and interictal myokymia, while episodic ataxia type 2 (EA2) is manifested by longer episodes of @PHENOTYPICFEATURE$ (hours) with interictal nystagmus.	has_symptom
+833d2b4008b44189d2a0f54f2b8fdd58707be465	Patients with @DISEASE$ may exhibit progressive and fluctuant hearing loss with episodes of @PHENOTYPICFEATURE$.	has_symptom
+84e3145c1115846fd25f58f27fb514b289b13def	Fluctuant, progressive hearing loss associated with Meni?re like @PHENOTYPICFEATURE$ in three patients with the @DISEASE$.	has_symptom
+7f289c216ebc422e9c30a5c588cbb0781ac0afc9	Multivariate logistic regression identified age ?10 years (compared to age of 0-9 years), bilateral HL (compared to unilateral HL/normal hearing), a history of head trauma, and @DISEASE$ (compared to the other EVA-associated disorders) as significant risk factors for fluctuating HL and/or @PHENOTYPICFEATURE$/dizziness.	has_symptom
+09192d2d0d6686e3a80c29afe2703cd1125ab575	@DISEASE$ is an X-linked condition characterized by postlingual sensorineural hearing loss in early childhood followed by dystonia, psychosis, and @PHENOTYPICFEATURE$ in adolescence and adulthood.	has_symptom
+c77ec626de27e7e1bd803dc27d42339291bec28a	DDON syndrome is an X-linked condition characterized by postlingual @PHENOTYPICFEATURE$ in early childhood followed by @DISEASE$, psychosis, and optic atrophy in adolescence and adulthood.	false
+4b6b5b46ce439ee5977afc0dd6907cc1326d3cfb	DDON syndrome is an X-linked condition characterized by postlingual @PHENOTYPICFEATURE$ in early childhood followed by dystonia, psychosis, and @DISEASE$ in adolescence and adulthood.	false
+fa18d38d6d4f0c5d0bf680234bbfffafa1e54ff9	@DISEASE$ is an X-linked condition characterized by postlingual @PHENOTYPICFEATURE$ in early childhood followed by dystonia, psychosis, and optic atrophy in adolescence and adulthood.	false
+2640282775fe0ec78043108d66955ba76767be9a	@DISEASE$ (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and @PHENOTYPICFEATURE$.	has_symptom
+35f830a121ed3be397dac477d0da3e2c817fcc2b	Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset @PHENOTYPICFEATURE$, gradual @DISEASE$ and optic atrophy.	false
+6d023f1bcd247d887a0b4d7c004134b31f8d3d2f	@DISEASE$ (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset @PHENOTYPICFEATURE$, gradual dystonia and optic atrophy.	false
+169651727ad57ee0b6da61b1805c5f2d774a1840	Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset @PHENOTYPICFEATURE$, gradual dystonia and @DISEASE$.	false
+995171240999485e87eef8d9fb29a4fd81c2fe25	The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, hydrocephalus, bilateral cleft lip, @PHENOTYPICFEATURE$, and cryptorchidism are consistent with a diagnosis of @DISEASE$.	has_symptom
+36c53dd578b150e965b02d67f73f824856df4727	The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, @PHENOTYPICFEATURE$, bilateral cleft lip, @DISEASE$, and cryptorchidism are consistent with a diagnosis of Roberts syndrome.	false
+2dfa86e44c4634ca1ed5139125446c5a28d8766f	The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, @PHENOTYPICFEATURE$, bilateral cleft lip, micrognathia, and cryptorchidism are consistent with a diagnosis of @DISEASE$.	false
+0a05c449d25eb7dee82e20b8b993c86080eb6e08	@DISEASE$, with characteristic @PHENOTYPICFEATURE$ and osteomas involving the jaws, is described in an adolescent male.	has_symptom
+35d264a41191a17718bf7cdc8107014ddb28070c	@PHENOTYPICFEATURE$ are present in estimated 30% of all affected individuals of @DISEASE$, so dental professionals play an important role in determining the early signs of the syndrome.	has_symptom
+586ba6a1e94446fb9545eef2499e9e515f6048de	On the other hand, @DISEASE$ is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, @PHENOTYPICFEATURE$, dermoid cysts and duodenal adenomas.	has_symptom
+8625d13ebe2217b22bd7f9defd40df5a0730a197	@DISEASE$ is more of a historical subdivision of FAP, characterized by osteomas, @PHENOTYPICFEATURE$, epidermal cysts, and soft tissue tumors.	has_symptom
+87a1766d0d4f01ad7cf0445775fafa9311ff1eb5	@DISEASE$ (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, @PHENOTYPICFEATURE$, epidermoid cysts and ocular abnormalities.	has_symptom
+4bb5f2207775244ecf527f77132be8ff595eb8af	@DISEASE$ (GS) is a rare syndrome with autosomal dominant inheritance, which is characterized by multiple intestinal polyps, @PHENOTYPICFEATURE$, desmoid tumors, and soft tissue tumors.	has_symptom
+75b2ab5d7ab1fbdb83987df4964d2cc5bd337bd7	@DISEASE$ (GS), a variant of familial adenomatous polyposis, is a rare genetic disorder with autosomal dominant inheritance, characterized by the presence of multiple intestinal polyps, multiple osteomas, @PHENOTYPICFEATURE$ and soft tissue tumors.	has_symptom
+4941eeb27325faf978dcf044e3cf4b9aade86c81	@DISEASE$ (GS) is a hereditary autosomal dominant disease of the colon that presents with extra-colonic manifestations such as osteomas, skin lesions and @PHENOTYPICFEATURE$.	has_symptom
+ee84e877475eb6d060028691763b5042e18fbc8c	Bone and @PHENOTYPICFEATURE$ as first signs of familial @DISEASE$ in a Chinese family: a literature review and a case report.	has_symptom
+07e948412edb80cdeee7a7bf0dbac3e1c3a9d27f	The hitherto undescribed association of @DISEASE$ (familial adenomatous polyposis coli, abdominal fibromas, osteoma, @PHENOTYPICFEATURE$, cystic fundic gland polyposis) with a thymic epidermoid cyst in a 38 year old woman is reported.	has_symptom
+2376cd2cb49154f0a79b84b3e098e5638898c273	Retrospective assessment of the clinical and radiological features of this patient-i.e., @DISEASE$, lissencephaly (pachygyria) with cerebellar hypoplasia, and @PHENOTYPICFEATURE$-indicated that the TUBA1A mutation did not lead to any contradictions.	has_symptom
+31576d9b969f04000002bbf4a4e9abbc343a181b	Retrospective assessment of the clinical and radiological features of this patient-i.e., microcephaly, lissencephaly (pachygyria) with @PHENOTYPICFEATURE$, and @DISEASE$-indicated that the TUBA1A mutation did not lead to any contradictions.	false
+79f8cee25c527a2d1d8deb6870c0d39c9ba17b95	Retrospective assessment of the clinical and radiological features of this patient-i.e., @DISEASE$, lissencephaly (pachygyria) with @PHENOTYPICFEATURE$, and corpus callosum hypoplasia-indicated that the TUBA1A mutation did not lead to any contradictions.	false
+26bb7a214aed1ea0eb2f8ff5f3aeceffd0ab8ca9	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, micrognathia, high-arched palate, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	has_symptom
+bcb862adb6356c398bd7275ad9ce7e5ec7596bd3	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: @PHENOTYPICFEATURE$, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+a6699b251e836b2b7389bd5ab8f9944e0102ab0b	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, @PHENOTYPICFEATURE$, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+639276030e462fbb64f55beb158f768fc29c911c	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @PHENOTYPICFEATURE$, micrognathia, high-arched palate, @DISEASE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+7850ad61cff5cc5d3c82f9a0a6bce373c48890ad	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, @PHENOTYPICFEATURE$, high-arched palate, @DISEASE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+78770e5028077c31e98f89396137522ac238928c	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+e71796eba0a2430cfeedcd92535257a782432ab8	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+5bc82e87c6d3f6169fe4a0a03d294428f90e3e69	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @PHENOTYPICFEATURE$, micrognathia, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+e3f81b34b12449a6009bae7af3dbd8865a83072f	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, @PHENOTYPICFEATURE$, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+f368f3894e82bd2de7f5843a99229480503939d2	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, @DISEASE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+1255eed6e2631d14c35d0b5ea02710329d433682	@DISEASE$: A cause of neonatal hypotonia and @PHENOTYPICFEATURE$.	has_symptom
+546b4c00291b3105db11457b5d459ca734445ca2	@PHENOTYPICFEATURE$ in @DISEASE$: outcomes from the European Vasculitis Study Group trials.	has_symptom
+3431cd9dffaa70e8c91c9553e2b0d8c32a03c46c	We enrolled patients with @DISEASE$ (GPA), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA), the latter with poor-prognosis factors and/or @PHENOTYPICFEATURE$.	has_symptom
+5e635d0a4faa4cc57439b809bd87a15097fb394a	[Diagnosis and treatment of @PHENOTYPICFEATURE$ induced by @DISEASE$].	has_symptom
+b49e75d1ffb5804390dbe8e844ed98cafc36c0f3	To describe the incidence and prevalence of @PHENOTYPICFEATURE$ in @DISEASE$ (AAV); to evaluate the correlation of neuropathy with other clinical manifestations; and to review the long-term outcome of treated neuropathy.	has_symptom
+4562d8bdbbe73138c7da8674a28043230153e1a5	@DISEASE$-induced cardiomyopathy and consequent @PHENOTYPICFEATURE$ is one of the most grave complications of uncontrolled hyperthyroidism.	has_symptom
+e75f23452a9a234df4f01b55174c49503086d0f2	The aims of this study were: 1) to calculate the prevalence of admissions for @DISEASE$-associated cardiac disease, 2) determine the type of cardiac disease i.e. dysrhythmic, ischaemic or @PHENOTYPICFEATURE$, and 3) to assess whether M?ori are over-represented amongst patients admitted to hospital with cardiac complications of thyrotoxicosis.	has_symptom
+011096687433348e388c3a9b288f81616d5c9dfe	[@DISEASE$ and @PHENOTYPICFEATURE$ (author's transl)].	has_symptom
+2a39eef89ea544e5982035bc51cc82e6204f7813	@DISEASE$ and @PHENOTYPICFEATURE$ that complicate pregnancy.	has_symptom
+8c9ebb67915e6dce89b614d856db93aa5e07f8ac	In this study, we present three children diagnosed as having @DISEASE$ with @PHENOTYPICFEATURE$ and growth hormone (GH) deficiency.	has_symptom
+8882b6d21410f85efd6c83d7346976800047b616	Patients with @DISEASE$ were often born after pregnancies complicated by polyhydramnios (8/18) or premature delivery (7/18) and had @PHENOTYPICFEATURE$ (11/18) or polyuria, polydipsia, and a tendency to dehydration (16/18) during infancy (12/18) or before school age (18/18).	has_symptom
+5c20612dc3eef194cef919b0024aa14253bcebda	These results indicate that GH deficiency may contribute to @PHENOTYPICFEATURE$ in children with @DISEASE$, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.	has_symptom
+4149c96512fe709b18292191dff3d6d0e28c7316	To our knowledge, there are no published growth hormone studies on @DISEASE$, which is also characterized by @PHENOTYPICFEATURE$.	has_symptom
+c54d56075f8c29cce4813c1ea5f129e56983d5c1	Study of a 3-year-old child who presented with @PHENOTYPICFEATURE$, hypertension, @DISEASE$, suppressed renin and ACTH, and decreased excretion of all known steroids suggested excessive secretion of a pressor hormone.	has_symptom
+5b8ce7101d1378a7dd0d6096e665f8b6cd74a873	Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$ is not known.	has_symptom
+edbea891dfe2f8fd143e511e7fa65cdce18c65ba	Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for @PHENOTYPICFEATURE$, the exact pathogenesis of @DISEASE$ in Bartter syndrome is not known.	false
+36dfe6187abdbb668f3ab7a5e0194d60b9581289	Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for @PHENOTYPICFEATURE$, the exact pathogenesis of short stature in @DISEASE$ is not known.	false
+2b7125af0cc3b99fdfe9e09331b05f23914f1ea0	Although polyuria, polydipsia, @DISEASE$, and salt loss may be responsible for @PHENOTYPICFEATURE$, the exact pathogenesis of short stature in Bartter syndrome is not known.	false
+741dfaf035750bdac66be35aef2f87f0c8dd1bb2	The two patients presented many characteristics typical of @DISEASE$ (suggestive facies, @PHENOTYPICFEATURE$, hypokalemia, metabolic alkalosis, renin increase, decreased chloride resorption) and of Gitelman syndrome (late onset, few symptoms, hypomagnesemia, hypocalciuria, normal renal concentration).	has_symptom
+c4e5e6e74035d4f648265aeab0f67b470f0058cf	@DISEASE$ is an autosomal recessive disorder characterized by curly hair, @PHENOTYPICFEATURE$, and nail dysplasia.	has_symptom
+c37d359638c51a50d567180bbd1ea06e7b3ea8d6	CHAND syndrome is an autosomal recessive disorder characterized by curly hair, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+aa0f8331319b6907279dc59262879f08f62bcf6d	@DISEASE$ is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and @PHENOTYPICFEATURE$.	false
+60a2a99ca0920ac7cf3aae16f135c0eec5665114	Three children from an expanded consanguineous Kuwaiti kindred presented with @PHENOTYPICFEATURE$, sparse and curly hair, and hypoplastic nails, suggestive of @DISEASE$ (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias.	has_symptom
+8d1f58a9825507f87839286558162771b0dcebe9	Three children from an expanded consanguineous Kuwaiti kindred presented with @DISEASE$, sparse and curly hair, and @PHENOTYPICFEATURE$, suggestive of CHAND syndrome (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias.	false
+61b9e8ef4ad39bbe3d33454723f1e1424e535b86	Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, and @PHENOTYPICFEATURE$, suggestive of @DISEASE$ (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias.	false
+3f80c592691934cec8f99946f2d709dd6ec29022	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	has_symptom
+48d6d55a0919efd459f350ba64306cdd7c2cd7a0	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, hypoparathyroidism, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	false
+e4e90cb5f408f75dd1c0c33c8b60aa0550d4e65b	We describe 2 patients with a partial @DISEASE$ (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+afdf77279188f4c784ac1642aa607d06a5818740	We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, @DISEASE$, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	false
+8099b0eadb5638fc9c439814c1da930f6a9d98bc	We describe 2 patients with a partial DiGeorge syndrome (@PHENOTYPICFEATURE$, @DISEASE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+55f4763c820b8bc3ba4371fd726a38dc547f6c9f	deletion (del22q11.2) syndrome (@DISEASE$/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, @PHENOTYPICFEATURE$, developmental delay and immunodeficiency.	has_symptom
+bd05e232f2318a2058f6e8316406b420f4417c49	The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with @DISEASE$, who presented with the clinical triad of immunodeficiency, @PHENOTYPICFEATURE$ and congenital heart disease.	has_symptom
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+14d7acf3426ebe50a633bf6b90aa1f0df0390ad2	The @DISEASE$, a variable complex of thymic aplasia, congenital heart disease, @PHENOTYPICFEATURE$, and anomalies of the face and neck, is thought to result from exposure to teratogenic agents.	has_symptom
+5f8f8305104847696dfb316f96f0acf84fdffc8b	results in a spectrum of disorders, including @DISEASE$ (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and @PHENOTYPICFEATURE$.	has_symptom
+b7ff8e6f131992b32cae9ca2a34a49984a44cbfb	@DISEASE$ was diagnosed in an infant who had an interrupted aortic arch, @PHENOTYPICFEATURE$, and low T lymphocyte numbers.	has_symptom
+7944d537e9021233e135ecc09ddfe4ab7bf9eac9	Postnatally, the patient presented with seizures, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as @DISEASE$.	has_symptom
+bb824cb885dcbb36f8a6f951c014491930251e0d	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+0fecc552dc1f150e8a39e5019fc01664b24f482b	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, @DISEASE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+261d45696d9a713a7c8c7c582cceba34c1bbbbdb	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+c386c6d54e111628d4d1a2be0ea3a773e849997d	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, @DISEASE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+0cea1a1839ab8d13dc39524e61b7e60c8b9785eb	Adult onset @PHENOTYPICFEATURE$ in a patient with psychiatric illness: a 71 years delayed diagnosis of @DISEASE$.	has_symptom
+7f67003e39f32813958a59c4858ec302fa53aa22	The chromosome 22q11 deletion syndrome, which is synonymous with @DISEASE$, is a congenital anomaly characterized by abnormal facies, congenital heart defects, @PHENOTYPICFEATURE$ with hypocalcemia, and immunodeficiency.	has_symptom
+a6b7d75f1c48fb3f78990780d8bbf3218d46f033	The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a @DISEASE$ characterized by abnormal facies, @PHENOTYPICFEATURE$, hypoparathyroidism with hypocalcemia, and immunodeficiency.	false
+1c98ba9574bc08038fc91240e5352ad7c8930d39	The chromosome 22q11 deletion syndrome, which is synonymous with @DISEASE$, is a congenital anomaly characterized by abnormal facies, @PHENOTYPICFEATURE$, hypoparathyroidism with hypocalcemia, and immunodeficiency.	false
+b92fc2f01a8e4bd7b9d6f92f1a3a561246947207	The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, @PHENOTYPICFEATURE$, @DISEASE$ with hypocalcemia, and immunodeficiency.	false
+d90cefc1972c36788499d75185c3147addb3ee80	The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, @PHENOTYPICFEATURE$, hypoparathyroidism with hypocalcemia, and @DISEASE$.	false
+b0dc2a334f8d5d18b48d6a90fe7c04f3ce083522	In addition, HH-SDOCT is establishing its role as a noninvasive monitoring tool in children affected by optic nerve pathology such as glaucoma, @PHENOTYPICFEATURE$ and hypoplasia, @DISEASE$, and pseudotumor cerebri.	has_symptom
+3e99b56bca0e264113f182df09737257488e5d5d	Biallelic pathogenic variants in CA8 cause @DISEASE$ (CAMRQ3), a rare form of hereditary @PHENOTYPICFEATURE$ characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait.	has_symptom
+8db9d759d16a2c9e45d055362ae70149489c3947	Biallelic pathogenic variants in CA8 cause @DISEASE$ (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable @PHENOTYPICFEATURE$ and often quadrupedal gait.	false
+deeaede57c63abede5f9cbe6e51a92d8b85bd430	Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary @DISEASE$ characterised by @PHENOTYPICFEATURE$, variable intellectual disability and often quadrupedal gait.	false
+4bb84e288df41faeeddb5c4a595e7bc31b2c68d4	Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary @DISEASE$ characterised by cerebellar hypoplasia/atrophy, variable @PHENOTYPICFEATURE$ and often quadrupedal gait.	false
+06facd3ed32d1a05c533b8b88325be2de1051f7a	Biallelic pathogenic variants in CA8 cause @DISEASE$ (CAMRQ3), a rare form of hereditary ataxia characterised by @PHENOTYPICFEATURE$, variable intellectual disability and often quadrupedal gait.	false
+edc850dd3191b4ca48255be89e1361dce097ad42	Domination of the clinical features of @DISEASE$ was observed: mild mental retardation, trigonocephaly, @PHENOTYPICFEATURE$, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia.	has_symptom
+ec17d2916a996ff1907633d3461402b144d8efa2	Domination of the clinical features of @DISEASE$ was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and @PHENOTYPICFEATURE$.	false
+7d9858f10e7be768f54bd23d0d1449dae5a07c02	Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, @DISEASE$, downward slanting palpebral fissures, low set ears, carp-shape mouth and @PHENOTYPICFEATURE$.	false
+32683dd8ce9825daa65ba17144d8d9bd2b4f0359	The most common ophthalmologic findings in the new cases of @DISEASE$ included strabismus (90.0%), refractive error (90.0%), and @PHENOTYPICFEATURE$ (70.0%).	has_symptom
+1de413f848e6f8a2eff280b98444d2a1041b0c8d	These disorders include infantile autism, @DISEASE$, attention-deficit hyperactivity disorder and @PHENOTYPICFEATURE$.	has_symptom
+af9d793c65cb594bf3283fe4f1c325c6c3619a55	@DISEASE$ is a pediatric illness characterized by @PHENOTYPICFEATURE$, conjunctivitis, oropharyngeal lesions, exanthem, peripheral edema, desquamation, and adenopathy.	has_symptom
+e9766e937afae2664e1bcbd3bea90f3c8ee8bc15	Kawasaki disease or @DISEASE$ (MCLS) is a recently recognized clinical entity in infants and young children with @PHENOTYPICFEATURE$ and characteristic mucocutaneous involvements accompanied by swelling of the cervical lymph nodes.	has_symptom
+bc3264950b9fc4244f7f4e2cdf4002f77408a6ff	@DISEASE$ (MCLS) is a newly recognized disease characterized by @PHENOTYPICFEATURE$ persisting for more than 5 days, an erythematous skin eruption, conjunctival congestion, dry red fissured lips, reddened tongue, palms, and soles, nonpurulent lymphadenopathy, and sometines diarrhea, arthralgia, and aseptic meningitis.	has_symptom
+4ea9acb56ce093b102d57e185f03a33ebfc8cc61	Mucocutaneous lymph node syndrome (MCLS) is a newly recognized disease characterized by @DISEASE$ persisting for more than 5 days, an @PHENOTYPICFEATURE$ skin eruption, conjunctival congestion, dry red fissured lips, reddened tongue, palms, and soles, nonpurulent lymphadenopathy, and sometines diarrhea, arthralgia, and aseptic meningitis.	false
+19580aaf95cd996ff2a7aad61c2dac78e7980ec1	@DISEASE$ (MCLS) is a newly recognized disease characterized by fever persisting for more than 5 days, an @PHENOTYPICFEATURE$ skin eruption, conjunctival congestion, dry red fissured lips, reddened tongue, palms, and soles, nonpurulent lymphadenopathy, and sometines diarrhea, arthralgia, and aseptic meningitis.	false
+964a7882183094d9ac8f974fc6a462c99011ef3c	Mucocutaneous lymph node syndrome (MCLS) is a newly recognized disease characterized by fever persisting for more than 5 days, an @PHENOTYPICFEATURE$ skin eruption, conjunctival congestion, dry red fissured lips, reddened tongue, palms, and soles, nonpurulent lymphadenopathy, and sometines @DISEASE$, arthralgia, and aseptic meningitis.	false
+36802e19e524934467214035b3d256fdcf915fb8	Mucocutaneous lymph node syndrome (MCLS) is a newly recognized disease characterized by fever persisting for more than 5 days, an @PHENOTYPICFEATURE$ skin eruption, conjunctival congestion, dry red fissured lips, reddened tongue, palms, and soles, nonpurulent lymphadenopathy, and sometines diarrhea, arthralgia, and @DISEASE$.	false
+fe02b4c1a1be0226aae433202ab6153ca5e07a99	The syndrome resembles Kawasaki disease (@DISEASE$) in several aspects, namely @PHENOTYPICFEATURE$, rash with subsequent desquamation, and cardiovascular involvement.	has_symptom
+575f25760d342b9ebc28f0317120f35bf51e6a91	The @DISEASE$ (PBDs) are a set of often lethal genetic diseases characterized by @PHENOTYPICFEATURE$ and defective peroxisomal matrix protein import.	has_symptom
+4741a7fc776b78e59a08f3effb37423bc57e9450	The @DISEASE$ (PBDs) are a set of lethal genetic diseases characterized by peroxisomal metabolic deficiencies, multisystem abnormalities, @PHENOTYPICFEATURE$, and premature death.	has_symptom
+30385319ab3335aabac40269381d3aefbc60994d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	has_symptom
+b8f96903559b483bca8b8206d505dc9bad253fd5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+d565bce2533eea6d2f13d7a3f084634863e40f94	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eedae195ffc1dd90538e0687af6c633458b76946	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+a05f14193e9df5a1a0dba9e6ab0d957b2bd41bb5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+3ab4049036e11fe919e1120ed1d09761eadf07c2	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset @DISEASE$ 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+31a499f6520a41e932458836358d8b57e2bf7dff	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB @DISEASE$ (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+84ce17b565da44ea8f1031449e8b145d60714b4c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (@DISEASE$ susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+667f633abe05e3e8fcc7cd5ae5714dafde362cc1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+8a5fdcd1dc9fc0584013fc8ae9f409984124e7ba	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (@DISEASE$, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dcdee0c226f0f113268c6da3e4c4a91b68ff3b9c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal @DISEASE$, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+5ea45b8ed296792c32cd9c8fe5885665c4f10f8c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+2bdc159e3088fb20bc8d4b54951fd473594e68a6	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+6b49a370b232d0e4bb87e11a2b07b2db39743267	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dcd176f7b223a33adf164c22992fa581a7e6591c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+36ec3077a10dc472d62cac4586c4fa950e6956fa	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, @DISEASE$, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+71bff801b5f8b671e86baa0816807f39c43c3dd7	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (@DISEASE$, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+814d7c9baa5768a1ef81230e17385edbd844e807	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @DISEASE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+04b40812b53894440f5a3231bc9ed375a8cc97a3	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+e426a7b711bb035ea233838ee95ee1b038b183e1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, @DISEASE$ of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dd2bdb0ab0caaa496416926980ed422c5b0bad5b	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+88914dbb23521c398618756b0bcbfeee5b11295f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+8ba1f708e19663d9052fdfef948e55be8adc6c17	Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive @DISEASE$ characterized clinically by mild @PHENOTYPICFEATURE$, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (PEX) genes.	has_symptom
+a69cce78182ece9a2e2987013dfcd60ad41f1fe8	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes @DISEASE$, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, @PHENOTYPICFEATURE$, and skeletal abnormalities.	has_symptom
+db91155e0d8b6c28405f3945a6d8eb12ace5643b	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes @DISEASE$, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+e3401a8cd1ceede04da71f86672a00d3c0eb7454	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, @DISEASE$ (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+718c3e408d3bfe578c191a47f07151b394589d6d	A defect in the alkyl-phospholipid biosynthetic pathway causes a @DISEASE$, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+b262ffd65669cc8dd97de80f5963908ae6344366	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e9692a33cc0bbf683ebe3c8262559595d21d1c29	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype @DISEASE$) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	has_symptom
+e0718238738a0cf7ac77db1f31ceada34bf2d59a	In this manner, the RSH syndrome has been identified as another metabolic multiple @DISEASE$/mental retardation (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+84ed631590e5b5f4aceb02d7ec70cd21fe9976b6	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) @DISEASE$ (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+e75b5207e62e5bef917a610f51ec955e76efcd93	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the @DISEASE$, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+82b07a3c0e9fe9e326eeeaffbfe53eec1709fb98	In this manner, the @DISEASE$ has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+f1c20d3043bb8571c141cf05689f4501724b68b8	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@DISEASE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+490f6c05e54712da7a387f708f207793975eb68e	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (@DISEASE$) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+500d3f772edc4e1eb5523f1c38a0c1c23b3f17e5	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype @DISEASE$) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+c44f3800b7ad3a90f32f750e4c15df641e9a7c2f	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and @DISEASE$ structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	false
+e89cfc182d7a34f5f55196a31e83ae22e1c6bc15	IEH can cause @PHENOTYPICFEATURE$, @DISEASE$, or cognitive changes.(2.)	has_symptom
+896d7e0b3e1eac27ed1c59c012bcdcefcf04a6a1	Other common manifestations included @DISEASE$, @PHENOTYPICFEATURE$, septic shock and wound infection.	has_symptom
+b0bd7122fe52830cd36c8934bc62576b2a1b9808	Three patients developed @DISEASE$ and one @PHENOTYPICFEATURE$.	has_symptom
+b80a27e71c9d99f30a25b643958f3df2dba1e5f6	All children with @PHENOTYPICFEATURE$ had shunted @DISEASE$.	has_symptom
+c79bcc55fe172a9872ab60c1d3df46cb40382bce	The most frequently encountered complications were @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+556861692cbee79fcdc4705df21f40e446da1e21	Complications included, predominantly, surgical site infection, @DISEASE$, and new-onset @PHENOTYPICFEATURE$.	has_symptom
+94e17b6f6f934dcdb67fdcb9914a14074f03045b	Early complications include rebleeding, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+a8a879f345876c690d321772d5dfc4c75f09fb55	Fewer survivors had shunted @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+4dd08f92e29145419c86e6b78bf67dde9bc4708a	Most common sequelae were @DISEASE$ and cerebral @PHENOTYPICFEATURE$.	has_symptom
+0d80adb21fb2b2cbd0b9705aeaf0e496ea71ff86	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @PHENOTYPICFEATURE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	has_symptom
+897df58b09b159c7475542cfdad78eadecb437a4	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+ec2258644e96da1f9fda4bc849b158c5564fc6ce	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, @DISEASE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+1e4cfd5bfdf214b7d7ad4f5508681b9a80f91f69	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	false
+14d328be72b48c0c2af75914b3a9f09947a26fdf	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	false
+c647aa5565b0cd40bb2f5727c55d25ab8841a9fc	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+3530b4dbb75e4d8051f0685678622c277b6a3f2f	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @DISEASE$, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	false
+157a374a73fd8b6220c4687aa9c362a8aca57d45	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (@DISEASE$); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	has_symptom
+be66a92b42de893b8151b8d9c8e3614f64a78286	These include ataxia telangiectasia (A-T); @DISEASE$ (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	has_symptom
+ce16b2418ada928d275eb9baf2bedede07d03032	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (@DISEASE$); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+2af7bbc62a173ef2077518ae16571e318cdcb878	These include ataxia telangiectasia (A-T); @DISEASE$ (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+b4baffd5a2b69617653b4daaa3f1ad09eb50361b	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and @DISEASE$ (AOA2).	false
+fe1af0e135f3b61fe9bbc4ca66610b3eaad2e88e	These include @DISEASE$ (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+a99b02be8f03139e75d51a64f2214899049fd9f9	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ @DISEASE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+824d4dfa79587c1339f8d5387ced6604de9ac291	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ type I and II.	has_symptom
+0ac8d9d06247d26a75cec9c048737ac4eafee20c	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and @PHENOTYPICFEATURE$ with @DISEASE$ type I and II.	false
+260c0abe1ef2d67d362d0dd66c4e6176101af2bd	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: @DISEASE$ and ataxia telangiectasia-like disorder, and @PHENOTYPICFEATURE$ with oculomotor apraxia type I and II.	false
+f8fb8e0582d7c10b6572627d94920e6e52819e80	In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and @DISEASE$, and @PHENOTYPICFEATURE$ with oculomotor apraxia type I and II.	false
+683ad0b7e74f92e52bee84acdc86553e313d719a	At least four disorders, ataxia telangiectasia (AT), an @DISEASE$, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by @PHENOTYPICFEATURE$ (OMA), which is an impairment of saccadic eye movement initiation.	has_symptom
+6f806dcd70b8e26850c02eb1e44495fb67662464	At least four disorders, ataxia telangiectasia (AT), an @DISEASE$, early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	has_symptom
+248e2dd66338ed61b828dc20a3f77ca8cb0d4812	At least four disorders, @DISEASE$ (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+f1494d21533c1009b6ebe77dd45e079747093e16	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+eda70c8d01fa7783864af9e22ce79ade52ac99b2	At least four disorders, ataxia telangiectasia (AT), an @DISEASE$, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+06c93d45497102f5238b97e5ae7eb273adae425d	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and @DISEASE$, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+6604a164bd3d71466a049d3debc73403b1e93138	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ @DISEASE$ (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+a579d96beedacb548f2a4d0771256ebafeef49fa	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by @DISEASE$ (OMA), which is an impairment of saccadic eye movement initiation.	false
+9206715b96cae25a4302bc2e5b06f000e82612c2	@DISEASE$ generally presents in childhood with @PHENOTYPICFEATURE$, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy.	has_symptom
+1c4dac469fb9f526f9edd1e03e66fb353eb8918e	Clinical manifestations of @DISEASE$ are characteristic facies, skeletal abnormalities, generous myotonia and @PHENOTYPICFEATURE$.	has_symptom
+9bf44e354cff60e6eb0f6819229297f3a7ea8b50	Clinical manifestations of SJS are characteristic facies, @PHENOTYPICFEATURE$, generous myotonia and @DISEASE$.	false
+2e3cb32de625f6472511d0ee60f99f1d85172656	Clinical manifestations of @DISEASE$ are characteristic facies, @PHENOTYPICFEATURE$, generous myotonia and short stature.	false
+e652e30b75b183ee54081b3c3c6ee39c24f21820	@DISEASE$ is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, @PHENOTYPICFEATURE$ and skeletal dysplasia.	has_symptom
+8263cbd27c4f4ad11c83930f522a1a9c0e600738	Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7a9da716c42e8d96047a75cd7f33c0f267e88d6f	@DISEASE$ is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and @PHENOTYPICFEATURE$.	false
+dd667c3ec5b70ca89e98f751433914fc4c2f139c	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @PHENOTYPICFEATURE$, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	has_symptom
+60c8cf7ae3fbcc934a8903602646580dd9f5fea3	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @PHENOTYPICFEATURE$, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	has_symptom
+e0693f2d9d8a4bf51aaf25b8b12ca1c7f64d4218	The Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, @DISEASE$, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+43e7fa62366bc2dd6dd4bef65d12b2521ed8c55b	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical @PHENOTYPICFEATURE$, and continuous muscle fiber activity.	false
+51fa35da5b715c2979189a68c786febeabc3eba5	The Schwartz-Jampel syndrome (SJS) is a rare congenital @DISEASE$ of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+59733eb5da12d693a99fa7ad053b1565d15f955e	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+793f471d8119c6a4dc388f17460702782af786ab	The Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @DISEASE$, muscle hypertrophy, clinical @PHENOTYPICFEATURE$, and continuous muscle fiber activity.	false
+77a77b5b40a13bcae214fe6447e446b9870242c7	The Schwartz-Jampel syndrome (SJS) is a rare congenital @DISEASE$ of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical @PHENOTYPICFEATURE$, and continuous muscle fiber activity.	false
+6d5a3f847e0b018af15769e33b697c2ed0752bd3	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+47149fc55806fc50c7b7629f1bc92766dc09c96f	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical @PHENOTYPICFEATURE$, and continuous muscle fiber activity.	false
+ea24c3e416e72da6b1b401d349ddc1451e6b67d9	The Schwartz-Jampel syndrome (@DISEASE$) is an autosomal recessive disorder of myotonia, @PHENOTYPICFEATURE$, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	has_symptom
+9a55087d3c0556f610f3d470783576948dd4d858	The @DISEASE$ (SJS) is an autosomal recessive disorder of myotonia, @PHENOTYPICFEATURE$, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	has_symptom
+21c25b39c18707cc04fe6841832ef45256e83e07	The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, @DISEASE$, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	false
+0d6de54bcc5476cfd8b19a0ca3a8f78c3b50d5fd	The @DISEASE$ (SJS) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	false
+897bc05a9a6dee28d19e4defe7afaf968df4f463	The Schwartz-Jampel syndrome (@DISEASE$) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	false
+4484c21e92a8f91452afa7646e1456cf9d50a39b	The @DISEASE$ (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, @PHENOTYPICFEATURE$, and bone dysplasia.	has_symptom
+f1ce0132a9096bd052d74949cfe16ee5f11502b8	Schwartz-Jampel syndrome (@DISEASE$) type 1 is characterized by @PHENOTYPICFEATURE$, myotonia, and chondrodysplasia, and is caused by partial loss-of-function mutations in HSPG2 encoding perlecan.	has_symptom
+1cc680658ab5ebac15afefb78c980001e2d4f23d	@DISEASE$ (SJS) type 1 is characterized by @PHENOTYPICFEATURE$, myotonia, and chondrodysplasia, and is caused by partial loss-of-function mutations in HSPG2 encoding perlecan.	has_symptom
+238ee355eac36bd4b21bf491ce7aa8e3fee4dcc5	@DISEASE$ is a heterogeneous autosomal recessive syndrome defined by myotonia, @PHENOTYPICFEATURE$, bone dysplasia and growth retardation.	has_symptom
+b480228468545a73cd171f50cd59a660a143e1f6	@DISEASE$ is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and @PHENOTYPICFEATURE$.	false
+d315cb7adb2ed22d142244a2835b5a5ed44ef34e	Schwartz-Jampel syndrome is a heterogeneous autosomal recessive @DISEASE$ defined by myotonia, short stature, bone dysplasia and @PHENOTYPICFEATURE$.	false
+337a28e3f8b55e9aaa23bf8a2faabaa3a0b44042	Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, @DISEASE$, bone dysplasia and @PHENOTYPICFEATURE$.	false
+756d952a75d87a3ee7daeeedf2c84d90076ab1da	Important conditions predisposing to hypernatremia include diarrhea, @PHENOTYPICFEATURE$, heat stroke, fever, limited access to water, excessive diuretic use, renal diseases, and @DISEASE$.	has_symptom
+7f78c790d1776418304e7087a25160147519794a	Important conditions predisposing to hypernatremia include diarrhea, vomiting, heat stroke, @PHENOTYPICFEATURE$, limited access to water, excessive diuretic use, renal diseases, and @DISEASE$.	false
+b82e39372eef45dcce4793585eace4fd36f80b1d	Important conditions predisposing to hypernatremia include diarrhea, @DISEASE$, heat stroke, @PHENOTYPICFEATURE$, limited access to water, excessive diuretic use, renal diseases, and pituitary diabetes insipidus.	false
+f4f7fa946f10a2da38b4ca839147e9a5bad6341c	Important conditions predisposing to hypernatremia include @DISEASE$, vomiting, heat stroke, @PHENOTYPICFEATURE$, limited access to water, excessive diuretic use, renal diseases, and pituitary diabetes insipidus.	false
+3bb431a8e297eb7d5bed4c7cff4951067e6e765e	Important conditions predisposing to hypernatremia include diarrhea, vomiting, heat stroke, @PHENOTYPICFEATURE$, limited access to water, excessive diuretic use, @DISEASE$, and pituitary diabetes insipidus.	false
+f3fbb069fcde5eb29b1a6a1620e7c45cfbd52c1b	Medical history begins 5 months before with a @DISEASE$, loss of weight (5 kg at admission), @PHENOTYPICFEATURE$ and asthenia.	has_symptom
+f2eb28f47c1f84a7dc04488d078b4410a772811d	All patients shared similar clinical features as previously reported including seizures, @PHENOTYPICFEATURE$, intellectual disability, variable neurologic regression, behavior issues, and dysmorphic @DISEASE$ features.	has_symptom
+f01191f2e8310c42e5ce451d70a5299d718ab523	All patients shared similar clinical features as previously reported including @PHENOTYPICFEATURE$, global developmental delay, intellectual disability, variable neurologic regression, behavior issues, and dysmorphic @DISEASE$ features.	false
+8519319615de6536b0b3852034af252f5b912493	All patients shared similar clinical features as previously reported including @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, variable neurologic regression, behavior issues, and dysmorphic facial features.	false
+0312ba32dea06859f271550d9cca58980c64542d	Up to now, at least 67 cases of @DISEASE$ have been published including nine cases with a @PHENOTYPICFEATURE$ (CHD).	has_symptom
+92829650426cfd57e440ffe2aacec6c7a6eba6d8	Seven cases of @DISEASE$ with @PHENOTYPICFEATURE$ (CHD) have now been described, 5 of whom had stenosis or atresia of the pulmonic valve.	has_symptom
+dac0049c7fe84d974938a176351f0761bd1164d2	Non-specific gastrointestinal symptoms, including pain, diarrhoea, @PHENOTYPICFEATURE$, can be the first symptoms of @DISEASE$.	has_symptom
+1b37bf37c55b75c8b596f9765dfba1d3ec82beb0	The phenotypes identified in these subjects included a variety of @PHENOTYPICFEATURE$ (CHD) (hypoplastic left heart syndrome, @DISEASE$, septal defects, and valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, and cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia.	has_symptom
+0460759f372b62e3a1665d7e632865299e1928ba	In the presence of @PHENOTYPICFEATURE$, these arterial vessels are found particularly in the presence of hypoplastic lungs and with the @DISEASE$ (3 cases).	has_symptom
+4ba663f8ec7cd5b9ce742861455baff052e83065	@DISEASE$ is a congenital @PHENOTYPICFEATURE$ characterized by anomalous venous drainage of the right lung into the inferior vena cava.	has_symptom
+7e60c2cef419bb0f2ad2a3e3e03c9fd7901eadfb	@DISEASE$ (SS) is a rare congenital @PHENOTYPICFEATURE$ defined by an anomalous right pulmonary vein draining of the right lung into the inferior vena cava.	has_symptom
+2b579aa66064b4dd0d40cd4740c5fad21d36d9da	@DISEASE$ is a rare congenital @PHENOTYPICFEATURE$ defined by an anomalous right pulmonary vein draining the right lung to the inferior vena cava.	has_symptom
+04748464818a74a97bb2178918202f6d1368ffab	Forty-seven patients were identified, including 20 infants with significant associated @PHENOTYPICFEATURE$ (42.6%, including 7 with single ventricle physiology), and 10 infants (21.3%) and 16 noninfants (34.0%) with isolated @DISEASE$.	has_symptom
+ca06aa74306ff4cc6108fb0345a76aa0983cc716	@DISEASE$ is a rare anomaly involving @PHENOTYPICFEATURE$ and lung which classically involves the right side.	has_symptom
+814a8de3d47a76ae9fd5edafa91f524970fb53c7	Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with @PHENOTYPICFEATURE$ and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of @DISEASE$ in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.	has_symptom
+5d633d87e6592adc87290c2dd17d762506b03493	@DISEASE$ is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing @PHENOTYPICFEATURE$.	has_symptom
+f56d3d558caebd3cb0f82234a0b886c3fa317911	Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of @DISEASE$ in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing @PHENOTYPICFEATURE$.	has_symptom
+b6da51d1029890212b3ad352dbd82ecf6fd2b0a7	@DISEASE$ is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with @PHENOTYPICFEATURE$ and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.	has_symptom
+e8a01284221ce226d041400a311bccdb561fbc64	Naxos disease is characterized by woolly hair, @PHENOTYPICFEATURE$, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing @DISEASE$.	false
+6f9acfe45ccb9073f0541ecd4a087bca154dd522	@DISEASE$ is characterized by woolly hair, @PHENOTYPICFEATURE$, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.	false
+f03209f6512ffa3f2f67ea98f06269a0453d0644	Naxos disease is characterized by woolly hair, @PHENOTYPICFEATURE$, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of @DISEASE$ in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.	false
+85554d111f513be5d24e0cc0128fb5a75acbcb67	Naxos disease is characterized by woolly hair, @PHENOTYPICFEATURE$, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with @DISEASE$ and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.	false
+ac1bd4249f06f0a02178eee04c9489b6b28c3879	Naxos disease is characterized by woolly hair, @PHENOTYPICFEATURE$, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular @DISEASE$; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.	false
+dacef60f1b0163c32f41faac12cfaf3701bb4c7c	The girl showed the main clinical features of the trisomy @DISEASE$, such as psychomotor retardation, @PHENOTYPICFEATURE$ and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases.	has_symptom
+56e31427d6fa0dbfa6e0bd79214f0c145e10f88b	The girl showed the main clinical features of the trisomy @DISEASE$, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, @PHENOTYPICFEATURE$, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases.	false
+53d1f2e6596809a78e5a7fc94fb9d9a9542e5ef1	The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, @DISEASE$ and brachycephaly, enophthalmos, antimongoloid eye slant, @PHENOTYPICFEATURE$, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+6c86e6fb698f9076a2f0236437f28065340f3300	Malignant @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+33f8bc4f73739fe38e518802db22125888903690	Catecholamines cause the hypercalciuria and @PHENOTYPICFEATURE$ in @DISEASE$ and in hyperthyroidism.	has_symptom
+6c9d1578dabad68fcfc570754ad72ec8db3131ee	Catecholamines cause the @PHENOTYPICFEATURE$ and hypercalcaemia in phaeochromocytoma and in @DISEASE$.	false
+e2ada9acfca7e38e145ae86b6ed250f3b2225a8a	Catecholamines cause the @PHENOTYPICFEATURE$ and hypercalcaemia in @DISEASE$ and in hyperthyroidism.	false
+514861dbc120a4f906edd71ad290ecf8e544e772	Catecholamines cause the @PHENOTYPICFEATURE$ and @DISEASE$ in phaeochromocytoma and in hyperthyroidism.	false
+b12dd81f10242eec64cf72b80a0dd0891defdb21	Our first patient had sustained hypertension, mild @PHENOTYPICFEATURE$, and elevated basal levels of parathyroid hormone and calcitonin associated with malignant @DISEASE$ and parathyroid hyperplasia.	has_symptom
+e1a9f53acea9a67a2f5751dbbba09d4bde7f3ca7	We report a case of @DISEASE$ associated with hypercortisolism and @PHENOTYPICFEATURE$ in a 62-year-old man.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9d73a8c3f3307d737fe168f852e9522881ee1a4c	To describe presenting symptoms, evaluation findings, and surgical management of cranial base @PHENOTYPICFEATURE$ in patients with @DISEASE$ (CED).	has_symptom
+1d2a295cde1826e826fe7f3fa19c7979402a4c26	Several genes have been discovered that, when disrupted, result in specific types of hereditary sclerosing bone dysplasia (osteopetrosis, pyknodysostosis, osteopoikilosis, osteopathia striata, @DISEASE$, hereditary multiple diaphyseal sclerosis, @PHENOTYPICFEATURE$ corticalis generalisata), many of which exhibit similar pathologic mechanisms involving endochondral or intramembranous ossification and some of which share similar underlying genetic defects.	has_symptom
+2d24a81e86708a7701350b71c8f620f9c5fa2935	Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endochondral bone formation: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis, enostosis, osteopoikilosis, osteopathia striata (Voorhoeve disease); (b) dysplasias of intramembranous bone formation: @DISEASE$ (Camurati-Engelmann disease) and variants, @PHENOTYPICFEATURE$ corticalis generalisata (Van Buchem disease) and variants; and (c) mixed sclerosing dysplasias: melorheostosis (Leri disease) and overlap syndromes.	has_symptom
+b76a9286737abda2a8dda60f009918bfe69f55c5	Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endochondral bone formation: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis, enostosis, osteopoikilosis, osteopathia striata (Voorhoeve disease); (b) dysplasias of intramembranous bone formation: progressive diaphyseal dysplasia (@DISEASE$) and variants, @PHENOTYPICFEATURE$ corticalis generalisata (Van Buchem disease) and variants; and (c) mixed sclerosing dysplasias: melorheostosis (Leri disease) and overlap syndromes.	has_symptom
+4642f5d3055df5c8de0616f2ed8ae309750fa233	Camurati-Engelmann disease (CED) or @DISEASE$ is a rare autosomal dominant inherited condition which belongs to the group of craniotubular @PHENOTYPICFEATURE$.	has_symptom
+ad296cc68d564ab635a65f092dc5bfcb77b21ba1	@DISEASE$ (CED) or progressive diaphyseal dysplasia is a rare autosomal dominant inherited condition which belongs to the group of craniotubular @PHENOTYPICFEATURE$.	has_symptom
+a6679651d0a75902b825eca8a79787ed2914905e	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients.	has_symptom
+b655cef2a4312d358ab158d66593c236cf54ae19	Camurati-Engelmann disease is characterized by @DISEASE$ of the long bones and the skull, muscle atrophy, severe @PHENOTYPICFEATURE$, and progressive joint contractures in some patients.	false
+d97f1aefbed858d3a4c4fae6d4b17934f85ba851	Camurati-Engelmann disease is characterized by @DISEASE$ of the long bones and the skull, muscle atrophy, severe limb pain, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+083ba2458f36fd0d75ff6deca5abba429c88f2eb	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+6aa5a44327aec9417e37e86b39198c0e56c71140	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, @PHENOTYPICFEATURE$, severe limb pain, and progressive joint contractures in some patients.	false
+c0f14d61b32484c42716a96dc422ed65da4a69e6	Camurati-Engelmann disease is characterized by @DISEASE$ of the long bones and the skull, @PHENOTYPICFEATURE$, severe limb pain, and progressive joint contractures in some patients.	false
+a8db1767bc4e404b416ca012380378310b73a64c	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe @PHENOTYPICFEATURE$, and progressive joint contractures in some patients.	false
+be59cb27bd8d6a22220e53055e4f44f4ea9f3fac	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and @DISEASE$ (FHH) are the most common causes of hereditary hypercalcemia.	has_symptom
+5c5f1e35657e8b70fff5333085b25cfda911af02	Familial hyperparathyroidism (HPT), characterized by hypercalcemia and @PHENOTYPICFEATURE$, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary @DISEASE$.	false
+6f94eb9fba160ca0ca51b5fa3941affab8156bf9	Familial @DISEASE$ (HPT), characterized by hypercalcemia and @PHENOTYPICFEATURE$, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	false
+48ddae5731de86d62b2bead1c7ba752b0f7a2922	Familial hyperparathyroidism (HPT), characterized by hypercalcemia and @PHENOTYPICFEATURE$, and @DISEASE$ (FHH) are the most common causes of hereditary hypercalcemia.	false
+29689dded2d67335df21d2fd31284b799d9336f0	Familial hyperparathyroidism (HPT), characterized by @DISEASE$ and @PHENOTYPICFEATURE$, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	false
+400ab2ad146825e94ea6c27163a70825714667ad	Despite extensive study since the first report of @DISEASE$ (FBH, or hypocalciuric @PHENOTYPICFEATURE$) in 1972, there is no evidence of the specific abnormal gene product.	has_symptom
+e5f466f3cfd31424febc3a11e814e68a1d362328	@DISEASE$, or hypocalciuric @PHENOTYPICFEATURE$, may be defined as a dominantly inherited disorder of calcium and magnesium metabolism, characterized by lifelong hypercalcemia and hypermagnesemia (both of variable degree), that usually is not associated with any symptoms, physical signs, reduced vitality, or ill health.	has_symptom
+b5884b868485277f3379e91f1480f77d0d358363	Three indices of circulating parathyroid hormone (PTH) activity were compared between two groups: the first a group of 23 patients from three large kindreds with autosomal dominant @PHENOTYPICFEATURE$ without hypercalciuria [@DISEASE$ (FHH)] and the second a group of 64 patients with typical primary hyperparathyroidism (1HPT) manifesting comparable hypercalcemia.	has_symptom
+50cdb9716764610103dbfd9b85963c30b247fc25	@DISEASE$ (FBH, or hypocalciuric @PHENOTYPICFEATURE$) is characterized by inheritance, in an autosomal dominant pattern, of lifelong hypercalcemia without hypercalciuria, which is often mistaken for classical primary hyperparathyroidism.	has_symptom
+e2dbd7b6043efe4bdeb814fdcca30243252b6b74	In @DISEASE$ (FHH), heterozygous inactivating mutations in the CaSR gene produce mild, generally asymptomatic @PHENOTYPICFEATURE$, whereas in neonatal severe hyperparathyroidism (NSHPT), homozygous inactivating mutations cause severe hypercalcemia and hyperparathyroidism.	has_symptom
+ccd935d236f50e7d071bfd908279310042bd96d2	The presumed dominantly transmitted @PHENOTYPICFEATURE$ in this kindred is consistent with @DISEASE$ with a confounding factor of ethanol possibly accounting for the hypercalciuria in the father.	has_symptom
+b1e7eb5a7a25ec384e76c63401d5ced88e856daf	@DISEASE$ (hypocalciuric @PHENOTYPICFEATURE$) was diagnosed in 125 members of 21 families.	has_symptom
+46914011e537d5d039ac506993d9d05164bbbd29	@DISEASE$ (FHH) is an autosomal dominant disorder characterized by high penetrance of relatively benign, lifelong persistent @PHENOTYPICFEATURE$ and hypocalciuria.	has_symptom
+ff2656c04609f118fce37151968891ec44f3eb7e	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	has_symptom
+40c1334f69399eb9ae2b91caa1bf355f3fa6b92a	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+c98f2373a3eb71e4b1b2eff36d270ad72f65d0ea	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+66689955d6ccc59b50b265ab095192ec338fbb12	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral @DISEASE$, genital abnormalities, seizures and a dysmorphic face.	false
+33f6ac02e26034b29646711594cf431a5cd545da	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+2584a8751d6dfa5dd39f6c6cab535edf34900f3d	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @DISEASE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+45e31419793472e0ee425d1e58d301538aba3c5c	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+3dc67f364ca65596ce5fc8ffbd12f9dce9aef8dc	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+87ac8a1bd4affd851eecfe84e3a86603dcc1c5cf	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+3e52327be86a2e2f6e16970fd19232438e2e2c54	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+7dff7c585f4c200521a71b1c335b79cb1e63ae76	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+94b70d4f026203306965be6bcd505da0a11d0703	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+0b09ef565f77161e62e7792a73363293d81e755f	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral @DISEASE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+83639ab99d951fc180ce2a7bfb6bc2690e1e6e15	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+2832912682edc8af38a2b3e193fc9a819788bb36	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+f6073d4da58ec7ce0be79dddb1820ec891a825c6	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @DISEASE$, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+510b8ef48f265fddc6de4ea87266d6a5cda89877	WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+b1feeb36b8db6d02e62121bd9ac061541a1d78a1	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+f85eceea4c43b59f2567f62d2b96f9b662ec3c06	WAGR syndrome (Wilms' tumor, @DISEASE$, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+c90f127ae0ac88c3273220d7c2cb860a489e0336	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+a7d000456d1d74f0fe2d880c61842a92d9c6aa22	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+bba8f8d03fb478eb3a988d9fd7efc93ea488dbe2	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @DISEASE$, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+5ae83b4ba255adeadeaa33ece501efac5c2a3935	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+ed176d5a0d7c9bd4cac5153d5508c3a5074e750e	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral @DISEASE$, genital abnormalities, seizures and a dysmorphic face.	false
+099b4a7bb0336d1e78ab454898f21b31da890714	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with @PHENOTYPICFEATURE$, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+89095c4e3089a67514b8084c5f92ddb600e066db	It is important to consider @DISEASE$ as a possible diagnosis in cases with recurrent episodes of @PHENOTYPICFEATURE$, vomiting, and abdominal distension, but without actual intestinal obstruction.	has_symptom
+e3d2aa266b1b5bd5804b18e6d77c574e3418aa65	It is important to consider @DISEASE$ as a possible diagnosis in cases with recurrent episodes of abdominal pain, @PHENOTYPICFEATURE$, and abdominal distension, but without actual intestinal obstruction.	false
+069380b1c4979f5e09e79dbf2ea34319b20c84ae	It is important to consider visceral myopathy as a possible diagnosis in cases with recurrent episodes of @DISEASE$, @PHENOTYPICFEATURE$, and abdominal distension, but without actual intestinal obstruction.	false
+71ba0c62973b7ebdea4cbb868a2e0f73cf1b31c8	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by @DISEASE$, microcephaly, external ear malformations and @PHENOTYPICFEATURE$.	has_symptom
+6e338749d094d8e2c491d854cd89ab5b42c70400	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by @DISEASE$, @PHENOTYPICFEATURE$, external ear malformations and intellectual disability.	false
+017b7da661193d5523aab88941ea3a2b6af618a7	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of @DISEASE$ (MFDGA), characterized by mandibulofacial dysostosis, @PHENOTYPICFEATURE$, external ear malformations and intellectual disability.	false
+fcbb4626fec582f4ed63be52c2bbf08177784075	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, @PHENOTYPICFEATURE$, external ear malformations and @DISEASE$.	false
+f8fa57112f1bce0bf19fb7de9751936e32c61660	We report on two patients presenting with mandibulofacial dysostosis characteristic of @DISEASE$, but associated with unexpected @PHENOTYPICFEATURE$, due to a large deletion encompassing several genes including the TCOF1 gene.	has_symptom
+50b066706aba83654b7f60dd23da0c51483d37eb	@DISEASE$, @PHENOTYPICFEATURE$, skeletal, genital, and ocular malformations occurred in a family with partial trisomy of the long arm of chromosome 2. Translocations of chromatin material from the long arm of chromosome 2 to the short arm of chromosome 9 was balanced in the female carriers of the pedigree but was unbalanced among the males.	has_symptom
+6f403c9a3963891ad2d5a1c5f0300d23b5a61924	Some craniofacial dysostoses: (Pierre) Robin's syndrome, @DISEASE$, and a digito-facial-@PHENOTYPICFEATURE$ syndrome.	has_symptom
+defcd9ddc76949a24b804a03d9004a052b3cf301	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	has_symptom
+83521e40ca71e7ed7c2cfdc99207aebbf8a17625	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	has_symptom
+96c956e64d6a98210bf86d73a3b767421192d5f7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+6abf4c61490cccca77d18ba2127bbe42997abd0c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@DISEASE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9cf336e07052cf48f850fefdbaa3e190458aef65	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+20cf2eedeecccf46daf3b14c4c8a672af77c6206	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@DISEASE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+9ed9083a39f4473f329dc0f7a7312acba24047b7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+d3c0a7732874633134a1ea0f41961482c5c387c2	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8411ca523b05980a8ee2db86ed8172ff300d9a35	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+096605474c9563de1a17ac58d02b3900a76fdb1c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@DISEASE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+4cb9b94312b680e15a25687b54fdcbf2351f421c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+97c60795bb56d4ed0fe1947c839a225da96a6e88	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+3463fca8a6df37328346282ae7884d9e3a0bdeb4	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9e8d886b49344041acdca5d49b9b0d69498bbded	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+149ec09649de23dbfed527f1dc324bb8f4f76648	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+fb73335af051dff7ea0913c9bef45f4a0b58d78a	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+677db4612e0523d573bb4c38496853b3852dfb01	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @DISEASE$, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+94054111337bf7c055e09d0c43983dc8f15aa1e0	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+6d1158058913cd60027c01697f91494c470448da	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, @DISEASE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+85b25e2d4bcc04ef199dbfdff1bc2ebac625c9d4	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, @DISEASE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+652aabe68dfe8a906aef53e986ff66de45e30456	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+60559ead1457916d071298038ba2df4b799372a3	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+f47a0beee0097d79085094b71dd5eac545f1fb8d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+1a16660804e1b795f8109f68d0129189d959c55d	A new syndrome with growth and @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, and cleft palate.	has_symptom
+8bbcd2f3078f3220b2aeeee493062247b9160bb5	A new syndrome with growth and mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and cleft palate.	false
+2a2e1ac414365f69eaa7e383b3130b062dc2bb41	A new syndrome with growth and mental retardation, @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	false
+424f6c758c95439b4657de2d97b00d2d9d4d2277	A new syndrome with growth and @DISEASE$, mandibulofacial dysostosis, microcephaly, and @PHENOTYPICFEATURE$.	false
+8eb36085b8ab7abccd6c940975198ab0a72fddd0	A new syndrome with growth and @DISEASE$, mandibulofacial dysostosis, @PHENOTYPICFEATURE$, and cleft palate.	false
+0632d61365dd3dc5c5868e3604cc13f7ad2e203f	We describe a 34-year-old woman with mental retardation, short stature, @PHENOTYPICFEATURE$, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident @DISEASE$.	has_symptom
+394b0ffb175c55c6f1bc2f409b78db09d192b5eb	We describe a 34-year-old woman with @PHENOTYPICFEATURE$, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident @DISEASE$.	false
+932384b37b6e7358c0985259156379e85ae87f34	We describe a 34-year-old woman with mental retardation, @PHENOTYPICFEATURE$, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident @DISEASE$.	false
+e4705bfa3cc7a790f1e37b56a8a06242be9b35bf	We describe a 34-year-old woman with @PHENOTYPICFEATURE$, short stature, @DISEASE$, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome.	false
+79fb8cbdfa59b67b0b3a722215fd08859496abea	We describe a 34-year-old woman with mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome.	false
+cf5f57fcea544b81ddc6dfa1f6349efa218f62b1	@DISEASE$ can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and @PHENOTYPICFEATURE$, and especially fetal atrial tachycardia.	has_symptom
+0cf84af53f789093f9f761c991ede4bf5feb76db	@DISEASE$ is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	has_symptom
+77e7262bb31af858065998452757aa88979a6637	@DISEASE$ is a rare syndrome characterized by failure to thrive, @PHENOTYPICFEATURE$, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+dc1bbc3dd539500e5d08f0c257118c735d9dd7fe	Costello syndrome is a rare syndrome characterized by failure to thrive, @PHENOTYPICFEATURE$, mental motor retardation, characteristic facial features, @DISEASE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+9cf75a869ef3a0cab3b7059f3c13263acae2221e	Costello syndrome is a @DISEASE$ syndrome characterized by failure to thrive, @PHENOTYPICFEATURE$, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+5986eb778560e5da6eda2aa6abdb80efe6fdbc6d	Costello syndrome is a rare syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and @DISEASE$.	false
+a74f3a869ceba8b8abfa23b053729d1f0addde5b	Costello syndrome is a rare syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, @DISEASE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+51f938f55863321e71ac7049fddd1b43576cd008	Costello syndrome is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+f87b7f24e690a96e29a4e01a7c2c3578cf7b8bcb	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+64e66c065cc57d4b20c164f2ad4a55086743c04a	Costello syndrome is a rare syndrome characterized by failure to thrive, @PHENOTYPICFEATURE$, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and @DISEASE$.	false
+cb02a6e225070a1cdc85bcd9ce7fd622fc8ca33a	Costello syndrome is a rare @DISEASE$ characterized by failure to thrive, @PHENOTYPICFEATURE$, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+ff033b9ae2bce4801b0b0379b701fc8cc80850b0	Costello syndrome is a @DISEASE$ syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+2b54ee427292269696c7617a033e2df6a147deb3	@DISEASE$ was delineated based on its distinctive phenotype including severe failure-to-thrive with @PHENOTYPICFEATURE$, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment.	has_symptom
+a9b390efd4f08c9168fd34d4986f66d56c255194	@DISEASE$ is a rare genetic disorder characterised by growth and mental retardation, @PHENOTYPICFEATURE$, short neck and macroglossia.	has_symptom
+bfd51b06fe9e977286a16ce73bba2f60582b5e60	Costello syndrome is a rare @DISEASE$ characterised by growth and @PHENOTYPICFEATURE$, macrocephaly, short neck and macroglossia.	false
+6a0682181bdeb8703efbfbdf788dfdc2b7962b16	@DISEASE$ is a rare genetic disorder characterised by growth and @PHENOTYPICFEATURE$, macrocephaly, short neck and macroglossia.	false
+058572dbc4f595eb51e1492f8ae1661d26fd7cc8	Costello syndrome is a rare genetic disorder characterised by growth and @PHENOTYPICFEATURE$, @DISEASE$, short neck and macroglossia.	false
+b9c8aa7910686fbfb03491347a70dfd0adf3fffc	General anaesthesia practice in patients with @DISEASE$ may be complicated by difficult airway because of @PHENOTYPICFEATURE$, short neck, macroglossia and oral or laryngeal papillomas.	has_symptom
+cc6f110be2246a550e72bb6613d6d82bfc0f3911	Among 21 patients with periocular distribution, 9 had ocular complications secondary to the periocular location (mainly @PHENOTYPICFEATURE$, nasolacrimal duct obstruction, and refractive errors), and one had an ocular complication specifically associated with @DISEASE$ (Horner syndrome).	has_symptom
+eea330eac549ebad2af4a446a0d90f4d7d389cad	Periocular and ocular findings in patients with @DISEASE$ included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @PHENOTYPICFEATURE$ (n = 5), anterior polar cataract (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	has_symptom
+86c4eaa7223258bb364a03800e559a57d59712fb	Periocular and ocular findings in patients with PHACES syndrome included @DISEASE$ involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), @PHENOTYPICFEATURE$ from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+dc12ecfeb3446948134fffb286fb65988f2a6023	Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar @DISEASE$ (n = 1), @PHENOTYPICFEATURE$ from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+9b6c5f696d284b2a3cab50bcc4662fbc5ca9bdaf	Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), @PHENOTYPICFEATURE$ from @DISEASE$ (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+bc14c893a358e6348a521eb1fd026509c529f144	Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @DISEASE$ (n = 5), anterior polar cataract (n = 1), @PHENOTYPICFEATURE$ from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+4a5726a4579568118e93cd0dceda2ff75013bc3c	Periocular and ocular findings in patients with @DISEASE$ included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), @PHENOTYPICFEATURE$ from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+f40ba04a04e16a6e0b28f99ccfe718164e024fa5	In @DISEASE$ typically there is hypercalciuria with or without hypomagnesemia, while in Gitelman syndrome typical findings are hypocalciuria and @PHENOTYPICFEATURE$.	has_symptom
+e006a869d2fc37de20b9d679a522be1525ff041f	Gitelman's syndrome is a variant of @DISEASE$ characterized by hypocalciuria and @PHENOTYPICFEATURE$.	has_symptom
+c4102c2ab75cca21fc67ec819e3e60a735dbf2ab	Laboratory tests showed @DISEASE$, @PHENOTYPICFEATURE$, hypocalcemia and secondary hyperaldosteronism, as well as hypocalciuria and transient decreased PTH.	has_symptom
+c474c1e4738dcfa29ec436b69b8b5c9ff6bfd424	Loss-of-function mutations in the sodium chloride (NaCl) co-transporter (NCC) of the renal distal convoluted tubule (DCT) cause Gitelman syndrome with @DISEASE$, @PHENOTYPICFEATURE$ and hypocalciuria.	has_symptom
+83c9bd689ede15f15febbedd0ae23dd3bbf27d98	@DISEASE$ is an autosomal recessive disease characterized by diverse abnormalities in electrolyte homeostasis including hypokalaemic metabolic alkalosis; Gitelman's syndrome represents the predominant subset of Bartter's patients having @PHENOTYPICFEATURE$ and hypocalciuria.	has_symptom
+56ba356f849eb74653dd8d4963bc62dd39b2ac4b	After recovery from ARF, further evaluation disclosed he had hypokalemic metabolic alkalosis, normotensive hyperreninemia, hyperaldosteronism, renal @PHENOTYPICFEATURE$, hypocalciuria and hyperplasia of the juxtaglomerular apparatus which are a diagnostic set of disorders in Gitelman's syndrome, a variant of @DISEASE$.	has_symptom
+e13c5d74e0b9a41e685401d88dfa6e0300a03a6a	Gitelman's syndrome or familial hypokalemia-@PHENOTYPICFEATURE$ and @DISEASE$ share some common features but their prognosis is quite different.	has_symptom
+aae9be7ce727d471309fd0be0943be3b2c63bc7c	Gitelman's syndrome or familial @PHENOTYPICFEATURE$-@DISEASE$ and Bartter syndrome share some common features but their prognosis is quite different.	false
+8108a593d6cdef3f81b56f68f007c08a77041922	Gitelman's syndrome or familial @PHENOTYPICFEATURE$-hypomagnesemia and @DISEASE$ share some common features but their prognosis is quite different.	false
+64197d84883ebf809aa44b12b53433775500a033	Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild @PHENOTYPICFEATURE$, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting @DISEASE$.	has_symptom
+f523839e512a56b84dbbc7117d2755f5a2905992	Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild hypomagnesemia, @PHENOTYPICFEATURE$, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting @DISEASE$.	false
+7a2409840def383bddd778fa96998ec7472648a3	Investigations showed severe hypokalemia, @PHENOTYPICFEATURE$, hyponatremia, mild @DISEASE$, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+af35800d37e7b5890ae3b4343022bcd2181c9e5f	Investigations showed severe @DISEASE$, @PHENOTYPICFEATURE$, hyponatremia, mild hypomagnesemia, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+1c68dedb884c2d91425687f698a2b0e3a7f9ba27	Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild @DISEASE$, @PHENOTYPICFEATURE$, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+e5b22373699cd2a7ed432686d09ddb3a1f856725	Investigations showed severe hypokalemia, @PHENOTYPICFEATURE$, hyponatremia, mild hypomagnesemia, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting @DISEASE$.	false
+8ef4c99369622696f3f6f6d1da0cb2bbece223cf	Investigations showed severe @DISEASE$, hypocalcemia, hyponatremia, mild hypomagnesemia, @PHENOTYPICFEATURE$, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+2dfdd7a4d1baeb8ce5261153d6ab350160790e0f	A differential diagnosis of @DISEASE$ is Gitelman's syndrome, another hypokalemia-@PHENOTYPICFEATURE$ syndrome, which is thought to be caused by a transport defect in the distal tube.	has_symptom
+53a3c65d212c895d5a4cffba9372cb7a2719a3e3	A differential diagnosis of Bartter's syndrome is Gitelman's syndrome, another @PHENOTYPICFEATURE$-hypomagnesemia @DISEASE$, which is thought to be caused by a transport defect in the distal tube.	false
+8dea191c8d30c7d8b42e29c9aa20be50845db45f	A differential diagnosis of Bartter's syndrome is Gitelman's @DISEASE$, another @PHENOTYPICFEATURE$-hypomagnesemia syndrome, which is thought to be caused by a transport defect in the distal tube.	false
+217048898142aa21a85df302f14f3ab4290b4652	A differential diagnosis of Bartter's syndrome is Gitelman's syndrome, another @PHENOTYPICFEATURE$-@DISEASE$ syndrome, which is thought to be caused by a transport defect in the distal tube.	false
+49f749d55b58339bd9fb62d7d40378b4b845e1b9	A differential diagnosis of @DISEASE$ is Gitelman's syndrome, another @PHENOTYPICFEATURE$-hypomagnesemia syndrome, which is thought to be caused by a transport defect in the distal tube.	false
+b6312af2f33337536de23c40c8ecff1e9d4ac73d	In this case, the @DISEASE$ is associated with magnesium deficiency and @PHENOTYPICFEATURE$, with a ricket and severe phosphate deficiency, and finally with an hypercorticism.	has_symptom
+12f4906489afc31e1396c591a02e16196adc7160	Various renal abnormalities have also been associated with @DISEASE$, whereas renal vascular @PHENOTYPICFEATURE$ combined with renal insufficiency has been reported in several cases.	has_symptom
+cd476115dee4add93890553cc79e1263750926e5	This report describes a 3 year-old girl with @DISEASE$, hepatic cholestasis, @PHENOTYPICFEATURE$, hypercholesterolemia, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	has_symptom
+ba7db83a5c55b3189b6bf94174c5356e0b416162	This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, systemic hypertension, @PHENOTYPICFEATURE$, @DISEASE$, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	false
+c5f50e11dcfbacbde39da19a9a68d444d7dfd8e2	This report describes a 3 year-old girl with @DISEASE$, hepatic cholestasis, systemic hypertension, @PHENOTYPICFEATURE$, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	false
+d5f1fed18b84d58db05660e568e06e494066a393	This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, @DISEASE$, @PHENOTYPICFEATURE$, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	false
+170420b0306a00f76005a79908707c4caf5f9a94	@DISEASE$ (ACS) is a rare craniofacial disorder consisting of @PHENOTYPICFEATURE$, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix.	has_symptom
+114d1489ad18bc9395db95a086dc4b37d39ed519	In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n?=?3), Pierre Robin sequence-plus (n?=?3), @PHENOTYPICFEATURE$ with additional craniofacial malformations (n?=?4), or non-specific auricular dysplasia (n?=?1), which could represent subtypes of @DISEASE$.	has_symptom
+ea6382407db8fbac3d17cdcaa2196599cd160250	In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical @DISEASE$ (n?=?3), Pierre Robin sequence-plus (n?=?3), @PHENOTYPICFEATURE$ with additional craniofacial malformations (n?=?4), or non-specific auricular dysplasia (n?=?1), which could represent subtypes of Auriculocondylar syndrome.	has_symptom
+fc9ae93ed0b8ac9d743119e8cddb064110738bc0	@DISEASE$ (ACS) is a rare craniofacial disorder with @PHENOTYPICFEATURE$ and question-mark ears (QMEs) as major features.	has_symptom
+a91942c17757cde6b8d64b90da178060c7599a12	@DISEASE$ is a rare craniofacial disorder comprising core features of @PHENOTYPICFEATURE$, condyle dysplasia and question mark ear.	has_symptom
+d420a0b66a51a6c6bfb98c1776c49a6f34c43e40	@DISEASE$, mainly characterized by @PHENOTYPICFEATURE$, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature.	has_symptom
+dabd1085318e00d7e3bcc4eed56b3c90498fbca3	@DISEASE$ (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, @PHENOTYPICFEATURE$, and microstomia.	has_symptom
+2a668aac648097723a313fecab358b2961c8fbc9	@DISEASE$ (ACS) is a craniofacial malformation syndrome characterized by external @PHENOTYPICFEATURE$, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia.	false
+9fa61f1cacf651ba364d831ef8e308bea27e086a	Auriculo-Condylar Syndrome (ACS) is a craniofacial @DISEASE$ characterized by external @PHENOTYPICFEATURE$, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia.	false
+404c008a69292397741f68bdc8e8a9eaacbe5e09	Auriculo-Condylar Syndrome (@DISEASE$) is a craniofacial malformation syndrome characterized by external @PHENOTYPICFEATURE$, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia.	false
+1356d554add881d03fa8797c30cd74beddb8ec2e	Auriculo-Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external @PHENOTYPICFEATURE$, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, @DISEASE$, and microstomia.	false
+7b56c64b1e38c8933dcaca3ad57c1ac51a857000	@DISEASE$ (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	has_symptom
+c6fc62760b23e6a4381e40d5fa87bda1dcd736c3	Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial @DISEASE$ characterized by variable micrognathia, temporomandibular joint ankylosis, @PHENOTYPICFEATURE$, and a characteristic "question-mark" ear malformation.	false
+885ea08c87ec363596e43eaf98062a3e909ce534	Auriculocondylar syndrome (@DISEASE$) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, @PHENOTYPICFEATURE$, and a characteristic "question-mark" ear malformation.	false
+99e4a5edacceaeee755e20a3a70034fe5af1b6c2	@DISEASE$ (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, @PHENOTYPICFEATURE$, and a characteristic "question-mark" ear malformation.	false
+f07e02a42e61beeb30d688f88dd41f66a727b864	Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @DISEASE$, temporomandibular joint ankylosis, @PHENOTYPICFEATURE$, and a characteristic "question-mark" ear malformation.	false
+8fbf379965ee92427e1d7cca488f3f64507ba200	We report on 20 individuals in 4 kindreds with @DISEASE$ (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, @PHENOTYPICFEATURE$, microstomia, and a round facial appearance with prominent cheeks.	has_symptom
+bd8ad13b5bef2f55ca338aa8cd82e6bad99d3d6a	Chitayat-@DISEASE$, initially described in 1990, is a rare condition characterised by distal arthrogryposis, @PHENOTYPICFEATURE$, dysmorphic features and hypopituitarism, in particular growth hormone deficiency.	has_symptom
+fe8f5f538756115f493ea836a9333da9aafe3b5d	Chitayat-@DISEASE$, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and @PHENOTYPICFEATURE$, in particular growth hormone deficiency.	false
+9fa1d4cbc5faaa35e6c2d025499e4d884305a202	Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, @DISEASE$, dysmorphic features and @PHENOTYPICFEATURE$, in particular growth hormone deficiency.	false
+1fd3fdad75965e64290bb74a9cc796825d9c2f30	There were positive findings in 56 cases: @DISEASE$ (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), mucopolysaccharidosis type III A (1), hyperglycinemia with hyperglycinuria (1), renal @PHENOTYPICFEATURE$ (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type.	has_symptom
+fa71d3edea0d84dad9d75891599be376d0849769	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and @PHENOTYPICFEATURE$) and @DISEASE$ with postaxial malformations plus mandibulofacial dysostosis.	has_symptom
+5d3e2b0f5e8bce3d96a1a08db731beb6e02eaa33	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus @DISEASE$ (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+1cae1f151acfa7aca00dd3cda1fae05e1f35b7f5	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager @DISEASE$ with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+bb21b5a3638572487bd6f935c0414e7f7ddf14da	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and Miller syndrome with postaxial malformations plus @DISEASE$.	false
+a50b16880c5b868f8de7acde904e95dacfc6c2b3	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and @DISEASE$ with postaxial malformations plus mandibulofacial dysostosis.	false
+9f689856fb461c91a351c025787795050dd3f331	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and @DISEASE$) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+fcf4ae964058a98b8c641f09f285c993ac08f5e2	This report focuses on the diagnosis of @DISEASE$ in a Chinese girl who presented initially with @PHENOTYPICFEATURE$, delayed puberty, insidious onset of ptosis and later with typical features of Kearns-Sayre syndrome including complete heart block.	has_symptom
+f35822354103e87f31b83b5d4b01cf9827943141	This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with @PHENOTYPICFEATURE$, delayed puberty, insidious onset of ptosis and later with typical features of @DISEASE$ including complete heart block.	has_symptom
+5557792e349220d4fed8569039390cc23ad3927e	This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with @DISEASE$, delayed puberty, insidious onset of @PHENOTYPICFEATURE$ and later with typical features of Kearns-Sayre syndrome including complete heart block.	false
+bf0815d59ebefbd422b30a8fbd4a00bc44e40b0e	This report focuses on the diagnosis of Kearns-Sayre syndrome in a Chinese girl who presented initially with short stature, delayed puberty, insidious onset of @PHENOTYPICFEATURE$ and later with typical features of @DISEASE$ including complete heart block.	false
+1beef69b720c0a3fc95a07623be8e076c675225a	This report focuses on the diagnosis of @DISEASE$ in a Chinese girl who presented initially with short stature, delayed puberty, insidious onset of @PHENOTYPICFEATURE$ and later with typical features of Kearns-Sayre syndrome including complete heart block.	false
+0bf7bd7425dd202eb6265a912890c1708274771c	A 10-year-old boy had @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, and sensorineural hearing loss (@DISEASE$).	has_symptom
+52557af96749621dcd1bf5e34e15056ab52ee908	A 10-year-old boy had @DISEASE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, and @PHENOTYPICFEATURE$ (Kearns-Sayre syndrome).	false
+60cf1c980d64d666542653a8c8c93221fc3c2afb	A 10-year-old boy had short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+dbb89b0f1690f5b8943bcd237102d02e84e51d84	A 10-year-old boy had short stature, external ophthalmoplegia, atypical retinal @DISEASE$ degeneration, and @PHENOTYPICFEATURE$ (Kearns-Sayre syndrome).	false
+c38b5d5ca7565b051cae93100a4ea15b65e0ee8a	A 25-year-old woman with @DISEASE$ (KSS) had complete external ophthalmoplegia, @PHENOTYPICFEATURE$, ataxia, cardiac conduction defects, and pigmentary retinopathy.	has_symptom
+98fb6ad5a7a09c772ab1627e9ee827a1fa520953	A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, @PHENOTYPICFEATURE$, cardiac conduction defects, and pigmentary @DISEASE$.	false
+f59f2a342131dddb5b28c5844ec6ee24747ce0ed	A 25-year-old woman with @DISEASE$ (KSS) had complete external ophthalmoplegia, short stature, @PHENOTYPICFEATURE$, cardiac conduction defects, and pigmentary retinopathy.	false
+dfac1331c695edf6afc27dd3ed88542b0f888e78	A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, @PHENOTYPICFEATURE$, cardiac conduction defects, and @DISEASE$ retinopathy.	false
+71ec51f86e80fc3a5fa20e2444d4ab1f853f27d0	A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, @DISEASE$, @PHENOTYPICFEATURE$, cardiac conduction defects, and pigmentary retinopathy.	false
+dc6073bde5cb02928ac6cd07b6f82514f2ddf90b	We report a 17-year-old girl with @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, sensorineural hearing loss, and cardiac conduction defect (@DISEASE$).	has_symptom
+898a0769a7c06ea5d8757d685d0ae1d30288fb27	We report a 17-year-old girl with short stature, external ophthalmoplegia, atypical retinal @DISEASE$ degeneration, @PHENOTYPICFEATURE$, and cardiac conduction defect (Kearns-Sayre syndrome).	false
+9ffdf497ff5679a0723eb2bc26b877e509824443	We report a 17-year-old girl with short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, @PHENOTYPICFEATURE$, and cardiac conduction defect (@DISEASE$).	false
+2fb1928e716f62cbf739be6bab835e6076599769	We report a 17-year-old girl with @DISEASE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, @PHENOTYPICFEATURE$, and cardiac conduction defect (Kearns-Sayre syndrome).	false
+15071e2a43a79f93fdba0c49d22c4dee440b6bf4	The diagnosis of @DISEASE$ was excluded because of the absence of pigmentary retinopathy and of all other common manifestations except @PHENOTYPICFEATURE$.	has_symptom
+c70676461f0f002ee402c914fe15bce2aeb2f41e	We present a boy of eight years of age with symptoms of @DISEASE$ (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	has_symptom
+89faf209a6fe3a3e6432ac8973e2901de8730c75	We present a boy of eight years of age with symptoms of @DISEASE$ (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+dbca90ff804e2b5cec8d1df03870c5c734f132e1	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot @DISEASE$.	false
+fb54a20b52cdc39aa165b0edcd6834feb7f7c8d2	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to @DISEASE$, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+15fbf9353de18f58fc5c3e4399e457fda02e36c4	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, @DISEASE$ retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+227447c848aa9b9c37d088505d2303bc15b16317	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, @DISEASE$, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+0d6df4e7abbd8f473a0a23199cb3c6f712ffd217	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous @DISEASE$, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+e805cac5fe1663832b258445103d1099f9ddb050	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot @DISEASE$.	false
+69e55264ab26c1a4577d2a03a3bf67f720b43075	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, @DISEASE$, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+6e9c1eb0d11dcff15f4c7cdcdb5b0078c8117bbc	We present a boy of eight years of age with symptoms of @DISEASE$ (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+094f2c60dc0073d1baa05aedeac54e187e396313	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, pigmentous retinitis, associated to @DISEASE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+2550091f9a571d7f7738778b6aff70c28ce43a7d	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, @PHENOTYPICFEATURE$, cardiac blockade, @DISEASE$, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+86b835ef9be8fc55404b53dd7c781185a86ec71a	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, @DISEASE$ retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+e7a2424a4808ab28c2d6b5fe9942f0816486ad33	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, pigmentous @DISEASE$, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+0ae9e1b28172142d97a487eb671189bbe648947f	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral @PHENOTYPICFEATURE$, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, @DISEASE$, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+53478a997dc3271c85940b8b5f8fa129a4f42e02	Several genetic diseases, such as @DISEASE$ Del(22q11) and Down syndrome, are associated with @PHENOTYPICFEATURE$.	has_symptom
+ba381be5da22f781d6ada787aa8b5108a2da3699	This suggests either that @DISEASE$ and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, @PHENOTYPICFEATURE$, and mental retardation on 17q.	has_symptom
+b69e083a237e6c409b12e9af2839855b1c3d2484	This suggests either that Watson syndrome and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, @DISEASE$, and @PHENOTYPICFEATURE$ on 17q.	false
+dd65e8be67577cd54fd9e333a0046be91215166a	This suggests either that @DISEASE$ and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, short stature, and @PHENOTYPICFEATURE$ on 17q.	false
+1f1be8ae964e51eb9251bf45b2d142ad0fba4ef9	Placental apoptosis in preeclampsia, @PHENOTYPICFEATURE$, and @DISEASE$: an immunohistochemical study with caspase-3 and bcl-2.	has_symptom
+ad14061266ea4cb11c8d81decc86bd3195750c79	@DISEASE$ associated @PHENOTYPICFEATURE$, which is often accompanied by renal insufficiency, responds to treatment of sarcoidosis and withdrawal of vitamin D supplementation.	has_symptom
+a32c2e1841a4df6a6359fa67424ea76782cff831	Other Indications for Treatment Other indications for treatment include myocardial sarcoidosis, cerebral sarcoidosis (although the outcome is less certain), serious hepatic or renal @DISEASE$, @PHENOTYPICFEATURE$, persistent systemic symptoms, or other serious organ or functional impairment.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+53b7ef93239ba9446c01a6c91d0002267ec67ee6	@PHENOTYPICFEATURE$--@DISEASE$, primary hyperparathyroidism or both?	has_symptom
+59fe599d3d730d1cc288220c60f83db65d519850	In the human granulomatous disease @DISEASE$ @PHENOTYPICFEATURE$ and/or hypercalciuria result from the endogenous overproduction of 1,25-dihydroxyvitamin D [1,25-(OH)2D] by the disease-activated macrophage.	has_symptom
+1c25a0e713054b346ac86b9a6263b7c409a137a8	Renal impairment in @DISEASE$ is rare and occurs usually as a result of long standing @PHENOTYPICFEATURE$ or hypercalciuria with nephrocalcinosis or renal stones.	has_symptom
+692dc60ef469d5431e4f4486f8db0edbc930cc74	Renal impairment in @DISEASE$ is rare and occurs usually as a result of long standing hypercalcemia or @PHENOTYPICFEATURE$ with nephrocalcinosis or renal stones.	false
+64f6da5dc90eaafdf8153a4cfe3a83b0f38fc8b1	Renal impairment in sarcoidosis is rare and occurs usually as a result of long standing hypercalcemia or @PHENOTYPICFEATURE$ with @DISEASE$ or renal stones.	false
+a20b38cdd7de162257f422cb1ade8410e7e4afd0	Renal impairment in sarcoidosis is rare and occurs usually as a result of long standing @DISEASE$ or @PHENOTYPICFEATURE$ with nephrocalcinosis or renal stones.	false
+4890f893be24225e046ebd784d2e3c02b5f1516a	Here, we report a case of pediatric @DISEASE$, presenting with renal failure and @PHENOTYPICFEATURE$.	has_symptom
+4e5f644f8568770449cf0f50fcaa84b64466988a	Here, we report a case of pediatric sarcoidosis, presenting with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+911293950fa5423d8afe140e4f4841964a49de69	Here, we report a case of pediatric @DISEASE$, presenting with @PHENOTYPICFEATURE$ and hypercalcemia.	false
+c227f5fb9697673bc02f78ba7ba5c479b12c910f	@DISEASE$ of the kidneys and liver without radiologically demonstrable lung involvement in a 44-year-old woman was shown to be the cause of a @PHENOTYPICFEATURE$ syndrome.	has_symptom
+59337a7d707e275068def3fba265fbeaddfb99a3	@DISEASE$ associated @PHENOTYPICFEATURE$ (SAHC) may be secondary to excessive levels of 1,25-(OH)2 vitamin D3 produced by autonomous 1-alpha-hydroxylase activity within the granulomas.	has_symptom
+b64385525c3e13a2a378ca4c11b521ffe224a664	@PHENOTYPICFEATURE$ and @DISEASE$ in infancy.	has_symptom
+b483d9dce37b41bd87e8071bdd6e3f9d64742288	@DISEASE$ is a combination of congenital anomalies characterized by @PHENOTYPICFEATURE$, Klippel-Feil deformity, and an unusual ocular motility disturbance called Duane retraction syndrome.	has_symptom
+c22684e8e213495e9675597d39a207666a99e5d1	We report a case of @DISEASE$ exhibiting Klippel-Feil anomaly, Duane retraction syndrome and @PHENOTYPICFEATURE$.	has_symptom
+e11afda60f0d6255303ce36eac6a922444273cbc	[@PHENOTYPICFEATURE$-mutism and malformations of the occipital-cervical bones (@DISEASE$)].	has_symptom
+20e37cec8b556bf401fce9081325f9526fa5c544	@DISEASE$ i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (@PHENOTYPICFEATURE$) is a rare syndrome.	has_symptom
+02a95ee02f2ac9a862a6f0996d83d36ed9fc70b5	@DISEASE$ (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (DRS), the Klippel-Feil anomaly, and @PHENOTYPICFEATURE$.	has_symptom
+5c4399912575a590451f0d2c216a921b0cda48a0	@DISEASE$ (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and @PHENOTYPICFEATURE$.	has_symptom
+30c441fdb1f5e31dafceb1854ade5f1120b03035	@DISEASE$ is a disease characterized by a prominent proliferation of dense collagenous and elastic tissue in the endocardium with the occurrence of @PHENOTYPICFEATURE$ and death in early life.	has_symptom
+f425b74a9923efe80db24ed872cb082ac37153cc	@DISEASE$ (EFE) is a diffuse thickening of the ventricular endocardium, causing myocardial dysfunction and presenting as unexplained @PHENOTYPICFEATURE$ in infants and children.	has_symptom
+d1c4cb9d07341de16cb3c4f7379e4d0de44d40d2	In this report, we describe a patient with a phenotype compatible with @DISEASE$ (aberrant anterior hair line, hypertelorism, unilateral @PHENOTYPICFEATURE$, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305	has_symptom
+0011987623475dddbe5e39b6069831bd713477f1	In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, @PHENOTYPICFEATURE$, unilateral @DISEASE$, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305	false
+bbfa5bc34a3b598d07667001dd34911eda92f20f	In this report, we describe a patient with a phenotype compatible with @DISEASE$ (aberrant anterior hair line, @PHENOTYPICFEATURE$, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305	false
+a778ff6005b1438474600479190466e3d26e44f0	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	has_symptom
+409ca7b2932b7c0005a247430dc73beb21f114c2	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+fbe19b6f6844388322fe18e21112c562d1b86545	Mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+622c9723be5cd17a32ea0c4976e14707d11c1e5c	Mental retardation, short stature, @DISEASE$, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+0b507f7f2e6318ac98c5a2d71d03e75c4e84c2c4	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+a100bd14957b2cd0929afbdc813fa0f2f997bac3	Mental retardation, short stature, @DISEASE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+59b6bd926717da282d6688f55575233cba435216	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+860bcd508e5e5b308c817f5814f1f7755a5f6a1b	Mental retardation, short stature, @DISEASE$, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+e23c40d08b0ade93b4632510bffbfae7f2a2a0fa	@PHENOTYPICFEATURE$, short stature, @DISEASE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+8ec5fc64f3a6741f61b65c154c59d23b42d981db	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+abc1a6557ff44c3429b70ebbd6a85c958c9958a2	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+c12ec59e0430fcfcbb3a2818f42070cdebc534ee	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	has_symptom
+36e2a14828e66f2b8ad184da99775b5f7f4044be	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @DISEASE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @PHENOTYPICFEATURE$.	false
+751841ffeecd778d100db6d57c6e0372a85d71ab	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @PHENOTYPICFEATURE$.	false
+40257b557488667014d54bfa8df82110b6a0d55b	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, @DISEASE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+5c83d29f337045a31bc8a5d47c7eaa9130ebab1a	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+580f20a3b19a1e13936197a30cf67e725bc1e1e7	@DISEASE$ is an autosomal recessive condition characterized by syndactyly of fingers and toes, @PHENOTYPICFEATURE$, growth retardation and abnormal facies.	has_symptom
+043285db2d3e326ff643209ae9a39ef02d79d6d6	Filippi syndrome is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ of fingers and toes, @DISEASE$, growth retardation and abnormal facies.	false
+130f2ab976bb1c9245f23d39bd6cd78cbde7d9b2	@DISEASE$ is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ of fingers and toes, microcephaly, growth retardation and abnormal facies.	false
+4765481f51b9768ecea186f3a686cd3722e20060	Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, @DISEASE$, @PHENOTYPICFEATURE$ and abnormal facies.	false
+b8af928cf2f147a4c3cf7bcb4efe69815681b5d7	@DISEASE$ is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, @PHENOTYPICFEATURE$ and abnormal facies.	false
+c12ec59e0430fcfcbb3a2818f42070cdebc534ee	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	has_symptom
+36e2a14828e66f2b8ad184da99775b5f7f4044be	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @DISEASE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @PHENOTYPICFEATURE$.	false
+751841ffeecd778d100db6d57c6e0372a85d71ab	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @PHENOTYPICFEATURE$.	false
+40257b557488667014d54bfa8df82110b6a0d55b	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, @DISEASE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+5c83d29f337045a31bc8a5d47c7eaa9130ebab1a	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+ed2c9c30faaa2e51173a68da10db0caa02e3d437	Short stature, @PHENOTYPICFEATURE$, characteristic face, syndactyly and mental retardation: the @DISEASE$.	has_symptom
+2347990880357c5b4455db29c2d416a4f9937d41	@PHENOTYPICFEATURE$, @DISEASE$, characteristic face, syndactyly and mental retardation: the Filippi syndrome.	false
+b062bfd62671fd60c399f4ddc8d2e4ba5b9dd580	Short stature, microcephaly, characteristic face, syndactyly and @PHENOTYPICFEATURE$: the @DISEASE$.	false
+8c7a2b8b9b0f0f3c97ccd9b1a0bc3e33aa0b71df	@PHENOTYPICFEATURE$, microcephaly, characteristic face, syndactyly and mental retardation: the @DISEASE$.	false
+e0baf4751d62aa8675d2668d80a78a86db6d3ad5	Short stature, @DISEASE$, characteristic face, @PHENOTYPICFEATURE$ and mental retardation: the Filippi syndrome.	false
+cce95c61b79817e97ef30ab94e709b0b0d6cca33	Short stature, @DISEASE$, characteristic face, syndactyly and @PHENOTYPICFEATURE$: the Filippi syndrome.	false
+fa543ddf7fd29bf79b351ce74d7b4144a4dba24c	Short stature, microcephaly, characteristic face, @PHENOTYPICFEATURE$ and mental retardation: the @DISEASE$.	false
+fe6d25b11c9355ffa668fb65e9ae2fbb0ffe55a8	@DISEASE$ is a rare, presumably autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi.	has_symptom
+d0c24d456fa528ac5535b017b1d06b643cb568de	Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by @DISEASE$, pre- and postnatal growth failure, @PHENOTYPICFEATURE$, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi.	false
+c82dc7a1c6412250c74797e2cfa406975e09cd9a	@DISEASE$ is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, @PHENOTYPICFEATURE$, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi.	false
+644db0fb286e1f954ca406a39f16c096cae536a4	Mandibuloacral dysplasia (@DISEASE$) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive osteolysis of the mandible and clavicles, cutaneous atrophy, @PHENOTYPICFEATURE$, and diabetes mellitus.	has_symptom
+5abe6ef0c3a16b94478964a66a2cbcd4e472aebd	@DISEASE$ (MAD) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive osteolysis of the mandible and clavicles, cutaneous atrophy, @PHENOTYPICFEATURE$, and diabetes mellitus.	has_symptom
+d0d32e1a496480f83a4269025da8feaa7755de46	Mandibuloacral dysplasia (MAD) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive @PHENOTYPICFEATURE$ of the mandible and clavicles, cutaneous atrophy, joint contractures, and @DISEASE$.	false
+59e8fa6102d6325d85304a80dffb93c5dd8cbbd5	Mandibuloacral dysplasia (@DISEASE$) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive @PHENOTYPICFEATURE$ of the mandible and clavicles, cutaneous atrophy, joint contractures, and diabetes mellitus.	false
+a002e51cbdf43e70307ddfb7dac79d97d646d0be	Mandibuloacral dysplasia (MAD) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive @PHENOTYPICFEATURE$ of the mandible and clavicles, cutaneous atrophy, @DISEASE$, and diabetes mellitus.	false
+29ae686309ab9c5eb7e908965239ad66d561a025	Mandibuloacral dysplasia (MAD) is a syndrome characterized by @DISEASE$ and a distinct phenotype, which includes progressive @PHENOTYPICFEATURE$ of the mandible and clavicles, cutaneous atrophy, joint contractures, and diabetes mellitus.	false
+de5a566a391b6cec2ec9a53229e0b3241bbf6ebc	@DISEASE$ (MAD) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive @PHENOTYPICFEATURE$ of the mandible and clavicles, cutaneous atrophy, joint contractures, and diabetes mellitus.	false
+2c2b734553059c693598121eea8c92768575ec91	@DISEASE$ type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and @PHENOTYPICFEATURE$), cutaneous changes and partial lipodystrophy.	has_symptom
+7b40e13204d7c34ecfb7121df67bfd5b2d456f46	Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal @PHENOTYPICFEATURE$, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and @DISEASE$), cutaneous changes and partial lipodystrophy.	false
+456d44afe892f6243d4362008979d22cf686cea8	Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and @PHENOTYPICFEATURE$ (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and @DISEASE$), cutaneous changes and partial lipodystrophy.	false
+7c179b32aec25f80930f587c6b6e3da273c36001	@DISEASE$ type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal @PHENOTYPICFEATURE$, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy.	false
+1aa2e3f7cb5f269b3467be0e2d7a07bd5d660fc2	@DISEASE$ type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and @PHENOTYPICFEATURE$ (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy.	false
+5bc5c68e07985e61b481dccb037b2f6d6bc53a0d	@DISEASE$ (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, lipodystrophy, and mottled cutaneous pigmentation.	has_symptom
+be33ebddf744a96aebca9b8616815ce1c2113d1c	Mandibuloacral dysplasia (@DISEASE$) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, lipodystrophy, and mottled cutaneous pigmentation.	has_symptom
+ec385b3b4a1d940fc5146b6dfb57bea3ec2b328d	Mandibuloacral dysplasia (@DISEASE$) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, and mottled cutaneous pigmentation.	has_symptom
+18d2b4f7f2055b4017e684276f64f17aa23862bc	@DISEASE$ (MAD) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, and mottled cutaneous pigmentation.	has_symptom
+5ca286d3c0bbb3c2c81d1e7d0a49118dba9c4bec	@DISEASE$ (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, and mottled cutaneous pigmentation.	has_symptom
+3ccd7aaebaff6f5a997b766211bfd08fed8c6521	Mandibuloacral dysplasia (@DISEASE$) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, and mottled cutaneous pigmentation.	has_symptom
+3dd44a96d495c2bb13fbcd7244638d2071413157	Mutations were identified in 33 cases; 22 with sporadic @PHENOTYPICFEATURE$, 10 with familial aniridia and 1 with aniridia and other non-@DISEASE$ associated anomalies.	has_symptom
+8be887c7ff4f6519180cfe8312846c3f2cca2fd0	This case report describes a patient with @DISEASE$ caused by a mutation in the TWIST gene who exhibits a severe to profound @PHENOTYPICFEATURE$.	has_symptom
+e33e83d7fcbc1ac281e3181b6be429b5a14361aa	A child with @DISEASE$, @PHENOTYPICFEATURE$, and a TWIST mutation.	has_symptom
+8a7ffab28365202ab39077be01828d85529ef4af	Cranial ultrasonogram and computed tomography scan showed @DISEASE$, agenesis of corpus callosum and @PHENOTYPICFEATURE$.	has_symptom
+06cedd9e9bb37c9915742a4e56dfe00e0a975371	Cranial ultrasonogram and computed tomography scan showed @DISEASE$, @PHENOTYPICFEATURE$ and hydrocephalus.	false
+fd72371f77a55751926ba3340ab2932156c4fefa	Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e32f0dd47d8fa8cb71ca65cddf050ad7266c206c	The authors describe the case of a child born with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+32dff0dfe818b34cc60885691857d76fce4e2340	Treatable lesions, such as @DISEASE$, tumour, @PHENOTYPICFEATURE$ and porencephaly were identified in 25% of cases.	has_symptom
+bf43c004995392b12a264d3e2ae51815a8c71323	Treatable lesions, such as Dandy Walker syndrome, @PHENOTYPICFEATURE$, @DISEASE$ and porencephaly were identified in 25% of cases.	false
+725b5adfff873fc2ea66607c2dc038c5f21cad8d	Treatable lesions, such as @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus and porencephaly were identified in 25% of cases.	false
+7bde112db60f70737aa4480ab0e7bbf5769c853d	These dimensions were demonstrated to be abnormally increased in posterior fossa arachnoid cysts, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+a0855b3af51a17f6cbd6ea9d205f487d83c28a4b	Fetal surgery for @PHENOTYPICFEATURE$: successful in utero ventriculoamniotic shunt for @DISEASE$.	has_symptom
+ca9d3b786cbb725a1c3dcd66352c91b58e83ba65	The @DISEASE$ and Dandy-Walker variant usually present as isolated cases of @PHENOTYPICFEATURE$ in pediatric patients.	has_symptom
+2ceb533a2582f5f976d9209f80c92a2169c880e7	@DISEASE$ without @PHENOTYPICFEATURE$ in an adult.	has_symptom
+9a8dfc3fd942de0c2d01d786f01ab837ef1f6e36	Lateral ventricular shunting alone is often considered to be adequate treatment for @PHENOTYPICFEATURE$ caused by @DISEASE$.	has_symptom
+ba8b61120c31e4946cccfbb6188704af24814aa5	Optimal treatment for @PHENOTYPICFEATURE$ related to @DISEASE$ (DWS) remains elusive.	has_symptom
+f269502bfedf632a656faa561a820466d3459b1b	@DISEASE$ (DWS) is a congenital disorder typically manifesting with @PHENOTYPICFEATURE$.	has_symptom
+c3d86d0b7413fb01349354b70855aa66c7363b57	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with @PHENOTYPICFEATURE$, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as @DISEASE$.	has_symptom
+ec695e5cb964b53e3ec9736d4b34795b9523889f	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, @PHENOTYPICFEATURE$, and distal amyotrophy, sometimes designated as @DISEASE$.	false
+9df0e40cb9e7790c3c2a99ef680a7f1ad0c824e6	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with @DISEASE$, pigmented maculopathy, dysarthria, @PHENOTYPICFEATURE$, and distal amyotrophy, sometimes designated as Kjellin syndrome.	false
+aabb5315f333ab098f1595d2bc2575676ec76553	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, @DISEASE$ maculopathy, dysarthria, @PHENOTYPICFEATURE$, and distal amyotrophy, sometimes designated as Kjellin syndrome.	false
+db1ce2590224a4f29d75b56bafc2348796939b8d	The SPG15 locus was first reported to account for a rare form of spastic @DISEASE$ variably associated with mental impairment, pigmented maculopathy, dysarthria, @PHENOTYPICFEATURE$, and distal amyotrophy, sometimes designated as Kjellin syndrome.	false
+bf3339264b9a4cbe621cadc6087c1b826b5c91d1	@DISEASE$ (BCIE) is a dominantly inherited @PHENOTYPICFEATURE$ skin disorder caused by point mutations in the suprabasal cytokeratins 1 or 10.	has_symptom
+0574a84010e5af6cf5a7e4ce9d55191f2fecc1f5	The Tubby mouse is a phenotypic model for @PHENOTYPICFEATURE$ and retinal dystrophy including @DISEASE$. Thioredoxin is a small 13kDa protein which, when ubiquitously expressed as a transgene in the mouse, provides protection against multiple disease states including light-induced and oxidative stress-induced neurodegeneration and is down-regulated in the Tubby retina.	has_symptom
+96f47c8bccf603db836f40e2929c4111fde8d60f	@DISEASE$ (USH1) is an autosomal recessive sensory defect involving congenital profound @PHENOTYPICFEATURE$, vestibular dysfunction and blindness (due to progressive retinitis pigmentosa)1.	has_symptom
+ff92fa9694e8633b2893df90227145bdb42ac589	Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound @DISEASE$, @PHENOTYPICFEATURE$ and blindness (due to progressive retinitis pigmentosa)1.	false
+ba041670fc10d8754191dc600805af6d78017077	@DISEASE$ (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, @PHENOTYPICFEATURE$ and blindness (due to progressive retinitis pigmentosa)1.	false
+785a12f72a263bd411f47a3746991ba7d12bc771	Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, @PHENOTYPICFEATURE$ and @DISEASE$ (due to progressive retinitis pigmentosa)1.	false
+38357b0a10eb67cd20d2231ea853fc590f48b8cb	Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness, @PHENOTYPICFEATURE$ and blindness (due to progressive @DISEASE$)1.	false
+221df49a0c86cb87e5dafde7fc23e8a58f195abb	FSS is considered a type of myopathic @DISEASE$; diagnosis requires the following: microstomia, whistling-face appearance, H-shaped chin dimpling, nasolabial folds, and multiple @PHENOTYPICFEATURE$ and feet.	has_symptom
+f811096e7c610624a4d3ce801a063a801fd7b3f1	Their four extended family members have @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0505774e0d005c2bee55df2c9a2f4dc796e5c8ab	and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with @PHENOTYPICFEATURE$ intellectual disability and developmental delay (@DISEASE$).	has_symptom
+65e065a43ae18d88c48b379f0412c573e42685de	and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly @PHENOTYPICFEATURE$ and developmental delay (@DISEASE$).	false
+bf7a4a8c76cdb612c9795a753200e29b6f8ee157	and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with @DISEASE$ @PHENOTYPICFEATURE$ and developmental delay (IDD).	false
+dc8ceebe8b1c0938bcbcbe202e487d80b0a3ed4c	Sweeney-Cox syndrome, Barber-Say syndrome, and @DISEASE$ share the facial features of ablepharon, @PHENOTYPICFEATURE$, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth.	has_symptom
+2ad65e08c794f31436452a9f92aaf53bb3540f3e	In DHPR deficiency @PHENOTYPICFEATURE$ may develop in a similar distribution to that seen in @DISEASE$ and methotrexate toxicity.	has_symptom
+1976594ff0cc22d17eeefffc6de699dc09052a31	Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with @PHENOTYPICFEATURE$; they were therefore identified as having @DISEASE$. All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2-associated mutations increased cell sensitivity.	has_symptom
+2728860766f74b477a1662782b8180338be602ed	Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with @PHENOTYPICFEATURE$; they were therefore identified as having autosomal dominant hypocalcemia type 2. All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas @DISEASE$-associated mutations increased cell sensitivity.	has_symptom
+6bf02db5ed57b2b3e450c1e7018459ae71bcd750	@DISEASE$ is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with @PHENOTYPICFEATURE$, developmental delay, and ocular or skeletal pathology.	has_symptom
+5346b5ca286c1f1ed8c0fa6ceec5997547c4c8be	@DISEASE$ syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+5e228a5d6a63074b7094d98ea1216f950061c7b2	Linear sebaceous nevus syndrome (LSNS) is a rare @DISEASE$ that is associated with seizures and @PHENOTYPICFEATURE$.	false
+5456c6cb1f1bab1994fb44e7eda26d9cae06c9eb	@DISEASE$ syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with seizures and @PHENOTYPICFEATURE$.	false
+b3e7a22b48c9b9e87786a8713c45b015c3d2186c	Linear sebaceous nevus syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4aeb17df63122b8b7fe3494459597b88a91da0ef	Linear sebaceous nevus @DISEASE$ (LSNS) is a rare neurocutaneous syndrome that is associated with seizures and @PHENOTYPICFEATURE$.	false
+e67e00fcaf25f6712bdb1f70d56909338aca8f48	The @DISEASE$ (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling @PHENOTYPICFEATURE$.	has_symptom
+17ef6b1adbbc3dc66cb3e4cabdbe2094a5cc92fa	A male neonate with @PHENOTYPICFEATURE$, @DISEASE$ syndrome and hemimegalencephaly underwent hemispherectomy at 36 weeks' gestational age.	has_symptom
+de601d04a02314f2a0b58d69346d1407fdbefda5	IGF-1 and its receptor in @DISEASE$: association with adenocarcinoma and visceral @PHENOTYPICFEATURE$.	has_symptom
+646bd4057a9dbb46c4501cf04cba8398c678a83c	It was hypothesized that @PHENOTYPICFEATURE$ status affects disease outcomes and treatment-related toxicities in @DISEASE$ patients treated with chemoradiotherapy (CRT).	has_symptom
+2bc95138d2f1daec728d4205d0272efb2caf5256	Association between diabetes and @DISEASE$, independent of @PHENOTYPICFEATURE$, in the United States Veterans Affairs population.	has_symptom
+7c1fe4941aecd79ccf43bf9c665f4e72da32c65b	Reply to letter: @PHENOTYPICFEATURE$ and esophagectomy for @DISEASE$: is it only the high BMI that defines prognosis?	has_symptom
+11a652167518cec63f0bd70efcd9a4bb9ee0d8e4	Risk factors include tobacco use, @PHENOTYPICFEATURE$, a long history of heartburn, and a family history of @DISEASE$.	has_symptom
+c326893d0c803dcdefda95538f79cf1bf737b66e	We focus this review on @PHENOTYPICFEATURE$ and its impact on @DISEASE$.	has_symptom
+e9b84d94d61db1774c78b5c7e5ec816aacc87de2	Incidences of @DISEASE$ and @PHENOTYPICFEATURE$ are both rising in the United States.	has_symptom
+2634fdae7f5178a169351a492cb21f315ac0490a	With worldwide increases in @DISEASE$ and @PHENOTYPICFEATURE$, esophagectomies in the morbidly obese (MO) will only increase.	has_symptom
+cfd58ac569eaeef80f05df0364df5917dad16f1b	Single nucleotide polymorphisms in @PHENOTYPICFEATURE$-related genes and the risk of @DISEASE$.	has_symptom
+1f69b5ea22067c6f61c002ae24dc930d4af6c7b7	These outcomes suggest that the added risks of @PHENOTYPICFEATURE$ on standard outcomes in @DISEASE$ surgery are modest and should not independently have a significant impact on risk assessment in esophageal cancer management.	has_symptom
+17bf0fe65962f2f60b97fd9d5387184a3bf9162f	These outcomes suggest that the added risks of @PHENOTYPICFEATURE$ on standard outcomes in esophageal cancer surgery are modest and should not independently have a significant impact on risk assessment in @DISEASE$ management.	has_symptom
+adccb572e6f2146ca740b669597ecee8ee25a21b	Some male patients have additional features including brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (@DISEASE$) sometimes associated with Hirschsprung disease and @PHENOTYPICFEATURE$ or cryptorchidism (BRESHECK syndrome).	has_symptom
+85d5df7fd53e7514fd6e6fee0bfd821fe9f7eef4	Some male patients have additional features including brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and @PHENOTYPICFEATURE$ or cryptorchidism (@DISEASE$).	has_symptom
+38e728f4de5c0c7047778d8e1ad8099fa7b1a9ae	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or @DISEASE$ (BRESHECK syndrome).	false
+dcd1068b3a09ce511a70f006775c46ae4cfdecbe	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (@DISEASE$).	false
+1b6f6496c801b0e6ae508c28f86310e2e1d8457b	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (@DISEASE$) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (BRESHECK syndrome).	false
+026afdc977c88c3d4a82f41e565237d3b3b343d5	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with @DISEASE$ and cleft palate or cryptorchidism (BRESHECK syndrome).	false
+e81d750558c4b3a4c271fe20499528a05266db7d	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, @DISEASE$, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (BRESHECK syndrome).	false
+6a84c8524de3ecb2cadaa869a1356940aea4a059	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and @DISEASE$ or cryptorchidism (BRESHECK syndrome).	false
+5392d5267499c80d94766be6fb795bb1c11e5930	BRESEK/@DISEASE$ is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and @PHENOTYPICFEATURE$ or cryptorchidism.	has_symptom
+6d38d7f077e7bf884b6f567a7e156f4bda3c27b5	BRESEK/@DISEASE$ is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and @PHENOTYPICFEATURE$ or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.	false
+d8f6b0b4edd235e74378740bc7b17adfae7a9f5e	BRESEK/@DISEASE$ is a multiple congenital malformation characterized by brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.	false
+91690a8f80eee7082e1c8208e81bc00c813d8995	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, @PHENOTYPICFEATURE$, @DISEASE$, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.	false
+2e024c900e5ed070da80bba882e7759c6e97b5c7	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without @DISEASE$ and cleft palate or cryptorchidism.	false
+b7dcdcedcd484452e97c10fa66349f11a34043b1	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and @DISEASE$ or cryptorchidism.	false
+53720212767f6f74b8981acf441f0bb42e1c5ce5	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, @DISEASE$, skeletal deformities, ear or eye anomalies, and @PHENOTYPICFEATURE$ or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.	false
+4cf6e516750211d6d645fab2c4bd4a4e15a8274c	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and @PHENOTYPICFEATURE$ or small kidneys, with or without @DISEASE$ and cleft palate or cryptorchidism.	false
+0853c4bf9e9770baa950db6f542edbdc86b82961	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and @PHENOTYPICFEATURE$ or small kidneys, with or without Hirschsprung disease and @DISEASE$ or cryptorchidism.	false
+39437ddbba063b342d3a491a367214e066efdc6b	Atorvastatin is indicated in primary hypercholesterolemia, mixed @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5456c6cb1f1bab1994fb44e7eda26d9cae06c9eb	@DISEASE$ syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with seizures and @PHENOTYPICFEATURE$.	has_symptom
+5346b5ca286c1f1ed8c0fa6ceec5997547c4c8be	@DISEASE$ syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+de8f955a729145857bf51bd0999ea7d60d4f14ba	Linear sebaceous nevus syndrome (LSNS) is a rare neurocutaneous syndrome that is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+afb93f60e7efc0546ced89e4573eb45700ff4f47	Linear sebaceous nevus @DISEASE$ (LSNS) is a rare neurocutaneous syndrome that is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+339665526633332525e67a59071e19c5ff816ce7	Linear sebaceous nevus syndrome (LSNS) is a rare @DISEASE$ that is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+b27910d34c4639ec9aa4e538f79e29e3c076d6bd	Budd-Chiari syndrome and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+07748a0588248c0ba07f2323062fdce31e73df5a	In the clinical setting of an infant who is failing to thrive, has the Zellweger facies, and demonstrates an absent electroretinogram, these heterozygote @PHENOTYPICFEATURE$ are useful in making the diagnosis of @DISEASE$ before pathologic substantiation.	has_symptom
+ee17dafa980e71fd19a7e668b5d51919c865afc8	Mutations in the human gene cause @DISEASE$ mental retardation, X-linked (ATR-X) syndrome, a rare disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly and epileptic seizures.	has_symptom
+bebf6b2a695581acfe01b602cc70d79256f5f604	Mutations in the human gene cause alpha thalassemia mental retardation, X-linked (ATR-X) @DISEASE$, a rare disorder characterized by severe cognitive deficits, @PHENOTYPICFEATURE$ and epileptic seizures.	false
+c43bd92f36a5f07d46118386ffb63adb774100af	Mutations in the human gene cause alpha thalassemia mental retardation, X-linked (ATR-X) @DISEASE$, a rare disorder characterized by severe cognitive deficits, microcephaly and @PHENOTYPICFEATURE$.	false
+9f56f8b5358e15aa0b1ed9b5ca4be175ea467fd1	Mutations in the human gene cause @DISEASE$ mental retardation, X-linked (ATR-X) syndrome, a rare disorder characterized by severe cognitive deficits, @PHENOTYPICFEATURE$ and epileptic seizures.	false
+4b2f2a70b4081a85602fbe681926b5c0f0c7e9b2	Mutations in the human gene cause alpha thalassemia @PHENOTYPICFEATURE$, X-linked (ATR-X) syndrome, a rare disorder characterized by severe @DISEASE$, microcephaly and epileptic seizures.	false
+a6f18b769e6bc89b13dd568a55998500835f15c5	Mutations in the human gene cause @DISEASE$ mental retardation, X-linked (ATR-X) syndrome, a rare disorder characterized by severe cognitive deficits, microcephaly and @PHENOTYPICFEATURE$.	false
+6853884058465ab11e99b2f71014c087fee07f13	Mutations in the human gene cause alpha thalassemia mental retardation, X-linked (ATR-X) syndrome, a rare disorder characterized by severe @DISEASE$, microcephaly and @PHENOTYPICFEATURE$.	false
+e480fd4babdb8118e6fea33993f8a34179b6fecc	Mutations in the human gene cause alpha thalassemia mental retardation, X-linked (ATR-X) syndrome, a rare disorder characterized by severe @DISEASE$, @PHENOTYPICFEATURE$ and epileptic seizures.	false
+612b58a615c2be90ed3884745b93e11f670a3faf	Mutations in the human gene cause alpha thalassemia @PHENOTYPICFEATURE$, X-linked (ATR-X) @DISEASE$, a rare disorder characterized by severe cognitive deficits, microcephaly and epileptic seizures.	false
+401d4e808377e770ab12ab094938e2dca36bf316	Mutations in the human gene cause @DISEASE$ @PHENOTYPICFEATURE$, X-linked (ATR-X) syndrome, a rare disorder characterized by severe cognitive deficits, microcephaly and epileptic seizures.	false
+d3bb9bc3cd7e0cb56087eaa7a15c59bbcd37ce60	All patients had an early clinical presentation with @PHENOTYPICFEATURE$, severe extrapyramidal dysfunction and @DISEASE$ demonstrated by the cranial MRI.	has_symptom
+ec415e31e392030b1d2176baacf18f193046074c	All patients had an early clinical presentation with @DISEASE$, severe @PHENOTYPICFEATURE$ and Leigh disease demonstrated by the cranial MRI.	false
+c1fc21206defa8fe76ecb2b73385fe241712c138	All patients had an early clinical presentation with muscle hypotonia, severe @PHENOTYPICFEATURE$ and @DISEASE$ demonstrated by the cranial MRI.	false
+3623c06c349ce0fd970d8d62a452818d83da56b8	Patients with @DISEASE$ classically present in early childhood with developmental regression, @PHENOTYPICFEATURE$, and hypotonia with subsequent respiratory and brainstem dysfunction.	has_symptom
+e51705a83ffb1e5c740f4df4aaffd1ebcb445bd9	Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8993 (T8993G), @DISEASE$ with T8993C was characterized by a significantly higher frequency of @PHENOTYPICFEATURE$ (P < 0.01).	has_symptom
+ccf8794500f567017059ecf49a5482b78b25f99c	Compared with 18 reported patients with @DISEASE$ caused by a T-to-G mutation at nucleotide 8993 (T8993G), Leigh syndrome with T8993C was characterized by a significantly higher frequency of @PHENOTYPICFEATURE$ (P < 0.01).	has_symptom
+52d3076206b1266ae027c8f710be6fdc79a7501d	The milder symptoms of T8993C-@DISEASE$ can be explained by the milder complex V dysfunction; however, the higher frequency of @PHENOTYPICFEATURE$ in T8993C-Leigh syndrome requires more study.	has_symptom
+d6c2a817c7fa400fd7be2db65d1e5323040101f9	The milder symptoms of T8993C-Leigh syndrome can be explained by the milder complex V dysfunction; however, the higher frequency of @PHENOTYPICFEATURE$ in T8993C-@DISEASE$ requires more study.	has_symptom
+ffaee76278c25296fc6b037246b8c87432b484b1	Late onset @DISEASE$ and @PHENOTYPICFEATURE$ due to a T to C mutation at bp 9,185 of mitochondrial DNA.	has_symptom
+a49684e12fc58886b51269b2074f44ef1e1f5c35	The six unrelated patients presented with hypotonia, @PHENOTYPICFEATURE$, psychomotor retardation, or @DISEASE$.	has_symptom
+215fcf12eb65a99c3f76430bf6251b57eadeb154	@PHENOTYPICFEATURE$ and @DISEASE$ were subsequently documented in a neurological examination and brain MRI.	has_symptom
+671b16786c2b699e27f86af07b6ccc25a5c85456	Patient 1 had @PHENOTYPICFEATURE$ from early infancy and an abnormal MRI of the brain compatible with @DISEASE$ (LS).	has_symptom
+4ac64f340306fdf721d5da53415e68a10b703873	Thirty-one individuals presented with @DISEASE$ and 7 with neuropathy @PHENOTYPICFEATURE$ retinitis pigmentosa.	has_symptom
+5d193e455081a46c44c95912821d5dad22909925	Patient 4 presented with neurological regression mimicking @DISEASE$, with ptosis, myoclonus, @PHENOTYPICFEATURE$ and brainstem and cerebellar atrophy.	has_symptom
+42a9b4347cb5cbcf92f0287d1d6e86102f5ad20f	Patient 4 presented with neurological regression mimicking @DISEASE$, with @PHENOTYPICFEATURE$, myoclonus, ataxia and brainstem and cerebellar atrophy.	false
+b556b8b46b3ee0d17598ebc90abf9e4e0f9b8ad7	Patient 4 presented with neurological regression mimicking Leigh disease, with @PHENOTYPICFEATURE$, myoclonus, @DISEASE$ and brainstem and cerebellar atrophy.	false
+74fb207c530373b4d3b41647bab928a863c6d1e0	Mitochondrial EFTs defects in juvenile-onset @DISEASE$, @PHENOTYPICFEATURE$, neuropathy, and optic atrophy.	has_symptom
+e2709640d85d28fd8dae7b995bd22fdc5a7319d6	Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c41be7adbe00915c09410822b26268b5ea7fb818	Mitochondrial EFTs defects in juvenile-onset Leigh disease, @DISEASE$, neuropathy, and @PHENOTYPICFEATURE$.	false
+340e6fac645c42f6bc30df8c100e0c93299135c4	Mitochondrial EFTs defects in juvenile-onset @DISEASE$, ataxia, neuropathy, and @PHENOTYPICFEATURE$.	false
+91e1d5562b25f640c7fcc5ae1592aa4272743f1a	Isolated growth hormone deficiency (@DISEASE$) is a disorder that leads to @PHENOTYPICFEATURE$.	has_symptom
+bd4e873455e33dd454143567b559ad70da74d994	@DISEASE$ (IGHD) is a disorder that leads to @PHENOTYPICFEATURE$.	has_symptom
+264bab29be6fd4fcd4a457b52ee9906fd50dd9c5	@DISEASE$ is an important and treatable cause of @PHENOTYPICFEATURE$.	has_symptom
+a1c24313361297b84aea0583f87d268e51212a58	The aim of this study was to analyze the individual impact of @PHENOTYPICFEATURE$ (SS) or untreated isolated growth hormone deficiency (IGHD) on voice quality and the influence of @DISEASE$ on voice aging.	has_symptom
+3bd4c04514ad2ea1e1a1fd5fca6149150e88862f	The aim of this study was to analyze the individual impact of @PHENOTYPICFEATURE$ (SS) or untreated @DISEASE$ (IGHD) on voice quality and the influence of IGHD on voice aging.	has_symptom
+02abd4119caa5b6948fc6b642547fb060aefdca0	The aim of this study was to analyze the individual impact of @PHENOTYPICFEATURE$ (SS) or untreated isolated growth hormone deficiency (@DISEASE$) on voice quality and the influence of IGHD on voice aging.	has_symptom
+4fadbed8789b4ae21a61c591baba7eb1496a75eb	@PHENOTYPICFEATURE$ in carriers of recessive mutation causing @DISEASE$.	has_symptom
+ad6698b0c76b14f6b08888e6df33f483063e1d30	Isolated growth hormone deficiency (@DISEASE$) and multiple pituitary hormone deficiency (MPHD) are heterogeneous disorders with several different etiologies and they are responsible for most cases of @PHENOTYPICFEATURE$.	has_symptom
+237093162cf6864c7fac1667a55aa3b229a46045	@DISEASE$ (IGHD) and multiple pituitary hormone deficiency (MPHD) are heterogeneous disorders with several different etiologies and they are responsible for most cases of @PHENOTYPICFEATURE$.	has_symptom
+dd1119e52c220cb7ad7ab1d4ae51a8e9797019b0	The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (@DISEASE$), idiopathic @PHENOTYPICFEATURE$ (ISS) and normal controls.	has_symptom
+147e428db30438d66a9d887c4c29774ae0a8cdb6	The objective of the study was to describe the pituitary volume (PV) in pediatric patients with @DISEASE$ (IGHD), idiopathic @PHENOTYPICFEATURE$ (ISS) and normal controls.	has_symptom
+9e47a551a59c97301bec395f30f6a4a462dbc5b3	The prevalence of @DISEASE$ among children of @PHENOTYPICFEATURE$ in Jordan and its relationship with consanguinity.	has_symptom
+227e34bf94e10f824f40044b70b56b9898613573	These include constitutional delay in growth and puberty, idiopathic @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+aef9a063def3e5c7c9f831dfc85b31e0f93fdfd5	Isolated Growth Hormone Deficiency (@DISEASE$) is a rare cause of @PHENOTYPICFEATURE$, treated with the standard regimen of subcutaneous synthetic growth hormone (GH).	has_symptom
+5d66d07a344492f50c64fdcfa1e537beba1f72e1	@DISEASE$ (IGHD) is a rare cause of @PHENOTYPICFEATURE$, treated with the standard regimen of subcutaneous synthetic growth hormone (GH).	has_symptom
+b080632be67700318e5f0815949f395aee430b9a	Five patients had normal variants of @PHENOTYPICFEATURE$ (NVSS), 7 had multiple pituitary hormone defects (MPHD) and 17 had @DISEASE$ (IGHD).	has_symptom
+a4a23fe7a45af522fc97e17d9947bdcd8af24200	Five patients had normal variants of @PHENOTYPICFEATURE$ (NVSS), 7 had multiple pituitary hormone defects (MPHD) and 17 had isolated growth hormone deficiency (@DISEASE$).	has_symptom
+4713aa3dd94ab59909bfd38359fd06359203ccd6	@DISEASE$ and nonsyndromic mitochondrial diseases often manifest as infantile @PHENOTYPICFEATURE$.	has_symptom
+42abc90c771f98e12f5da08ec1db171b5acba5d1	Sequence analysis of entire mtDNA showed the distinct sets of variants including some variants that may be associated with diabetes, hearing loss, @PHENOTYPICFEATURE$, cardiomyopathy, and @DISEASE$.	has_symptom
+82e06ddccf73dae360d8c5f2b8dc5dd661d31d83	Clinical presentation includes infantile-onset severe developmental delay, regression, @PHENOTYPICFEATURE$, elevated lactate, and brain MRI abnormalities consistent with @DISEASE$ (LS).	has_symptom
+2990923b2aebc378ec56111a6cf3fec5d1a9d16b	@DISEASE$ is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, @PHENOTYPICFEATURE$, hypotonia, respiratory disorders and high lactate levels.	has_symptom
+8487350de188a37080cc65ae43cf081159a112f7	Thirty (65%) of 46 patients manifested @PHENOTYPICFEATURE$ before the age of 1 year; 43% had @DISEASE$ and 53% had nonsyndromic mitochondrial diseases.	has_symptom
+28841694bcef40dca040808a589222304fa1d64d	Various types of @PHENOTYPICFEATURE$ and EEG findings are common in those with @DISEASE$.	has_symptom
+90ae13a6a3ce4cf192f24e189ae17572d38596d7	In @DISEASE$ GTC (11%) and complex partial (11%) @PHENOTYPICFEATURE$ were the most frequent types.	has_symptom
+b711cefcecead624aec83cd37a8349f380ac505c	Biallelic variants in COX4I1 associated with a novel phenotype resembling @DISEASE$ with developmental regression, intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+8333ef7b1e240e4ea62ab10697f807d1890172ef	Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+05cc8fde3916ce78febd9c4923af13b9bb21509b	Biallelic variants in COX4I1 associated with a novel phenotype resembling @DISEASE$ with developmental regression, @PHENOTYPICFEATURE$, and seizures.	false
+d980521451ddfb6f9bf0c5812f27f26aba8a74f3	The @DISEASE$ (LS), characterized by psychomotor retardation, @PHENOTYPICFEATURE$, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases.	has_symptom
+862ffc8ba72ba48b3eb8e71987951e99d1b1f9fb	The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, @PHENOTYPICFEATURE$, dystonia, or respiratory failure, is one of the most severe @DISEASE$.	false
+1fe21d961e4268441fad6816456fc9bf2915e6e1	The Leigh syndrome (LS), characterized by psychomotor retardation, @DISEASE$, nystagmus, ophthalmoparesis, @PHENOTYPICFEATURE$, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases.	false
+3dbf58478f34f9f0390d327eaca374490d118ec4	The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, @PHENOTYPICFEATURE$, ataxia, @DISEASE$, or respiratory failure, is one of the most severe mitochondrial diseases.	false
+c52885c9c80412c2e2dc3f3c7af664684d1576ab	The @DISEASE$ (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, @PHENOTYPICFEATURE$, ataxia, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases.	false
+e5f681d5fbffac855c9c0967451b7cbd2782d481	The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, @PHENOTYPICFEATURE$, ataxia, dystonia, or respiratory failure, is one of the most severe @DISEASE$.	false
+6b9678c1aed0dbcf77dbb7ed3212545212284436	The Leigh syndrome (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$, or respiratory failure, is one of the most severe mitochondrial diseases.	false
+7d313a7ed0ffa5eb349c42ccca99656c169f4043	The @DISEASE$ (LS), characterized by psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, @PHENOTYPICFEATURE$, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases.	false
+c17fdcaeccacbd1c6c356530a55127146d9b4973	The Leigh syndrome (LS), characterized by psychomotor retardation, @DISEASE$, nystagmus, ophthalmoparesis, optic atrophy, @PHENOTYPICFEATURE$, dystonia, or respiratory failure, is one of the most severe mitochondrial diseases.	false
+16e2ec2b81f2c68d6b0e4e8bd48224e95e93f1b7	Subacute necrotizing encephalopathy (@DISEASE$) is characterized by lactacidosis, @PHENOTYPICFEATURE$, ataxia, multiple cerebral hypervascularized lesions and mitochondrial oxidation defects.	has_symptom
+47a4d299470f265268b3b8fe2b1a93e0e669f3e6	Subacute necrotizing encephalopathy (Leigh syndrome) is characterized by lactacidosis, @DISEASE$, @PHENOTYPICFEATURE$, multiple cerebral hypervascularized lesions and mitochondrial oxidation defects.	false
+5704a5af9e6fa91576ebc77898575cad87e71506	Subacute necrotizing encephalopathy (@DISEASE$) is characterized by lactacidosis, seizures, @PHENOTYPICFEATURE$, multiple cerebral hypervascularized lesions and mitochondrial oxidation defects.	false
+83b5b3af34e0fa24cc05c020edc1235499318f31	Previous studies have indicated an increased rate of @PHENOTYPICFEATURE$ in children with classic @DISEASE$ (CBE).	has_symptom
+f0e1f6c7f6612ddf0b2a0dc6474786f81cde9979	To determine the proportion and type of @PHENOTYPICFEATURE$ that occur in children born with classic @DISEASE$.	has_symptom
+69f694e4bd678d9d351808f40b42771ab5380872	Congenital @PHENOTYPICFEATURE$ in patients with classic @DISEASE$.	has_symptom
+8c32d4e9eb18d5b36c8ce424eed1fd6deef4056d	Those with classic @DISEASE$ had their complete medical records reviewed and children with radiographic evidence of congenital @PHENOTYPICFEATURE$ were identified and characterized.	has_symptom
+7954a6264ae190acc307bce02c0d559dde13fbc0	Isolated @PHENOTYPICFEATURE$ occur at a rate of 2.8% in children born with classic @DISEASE$.	has_symptom
+567c3f0a492cf80f2f441440c87ef5d43fcbfdef	Simultaneous @PHENOTYPICFEATURE$ manifestations occurred in 2/17, including thrombocytopenic purpura in 1, and @DISEASE$ in another.	has_symptom
+0a9c7c7492372e87640a56f6f811cf0f477c210f	Thymoma is associated with multiple @PHENOTYPICFEATURE$, most commonly @DISEASE$ (MG).	has_symptom
+344f6c557fc9315651392fad6465f8f8c3c7a769	@DISEASE$ (MG) is a sporadic @PHENOTYPICFEATURE$ affecting neuromuscular transmission.	has_symptom
+1539d72456deea5e1b3335f7b5eca971de439305	@DISEASE$ (MG) is an @PHENOTYPICFEATURE$ affecting neuromuscular transmission.	has_symptom
+69482f0467ca0f83723c63dcb529bffdd480d490	@DISEASE$, an @PHENOTYPICFEATURE$ affecting neuromuscular transmission, is mainly sporadic while familial cases are very rare.	has_symptom
+f048f0471dbae9da35a8f400777537764327866b	@PHENOTYPICFEATURE$ dysfunction may be associated with the development of cGVHD as demonstrated by the high incidence of prior aplastic anemia in BMT patients presenting with @DISEASE$ and polymyositis.	has_symptom
+a4c29c5bf282962fdf66ae8303f7f67b41c9c321	@PHENOTYPICFEATURE$, myoclonus, cervical lipomas, and @DISEASE$.	has_symptom
+1722501b5ba0f00aadb98786eb3e44688d94ef5e	@DISEASE$ (MERRF) syndrome is a rare disorder characterized by myoclonus, muscle weakness, @PHENOTYPICFEATURE$, heart conduction block, and dementia.	has_symptom
+7248039d258cb6e9ff7475e48d2a4248b61bfb23	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	has_symptom
+4d764075600ff1af6c331d0d0078bff990f9f50e	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	has_symptom
+51a663c67c2fbd8e8525ee23e896f92daba7793f	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+7bd96eb165431e3226fad7cc956e974f1cc66132	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+69ce2b13cfeb260b0e9b20cca8b165710d6f13a2	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+5ed047fbc4718f8e0a6ac87bd93a8fb4b2b133df	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+75727d6d602a0ee27d9e38bbd666cbdf2a9d327f	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, @DISEASE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+04d18113f3b212fd1b83d3005e189e509856afcf	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+a6a8f4e0fd052148c5c53ebb1924aa7a2cc32d1d	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+c24d3951e55dbdc46ac4cbe6577408b53248a809	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+6950cf6459e867bb1298250067bd31dc33cdc383	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic @DISEASE$.	false
+bf4244ddcdf98ab69692495a729f053d09f03e2e	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+9f75cbe43ea442aab59de65b24b8de8c75bbdb92	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+9631499a5fbc4a34c2ccd8885fae52f2614d8c7c	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+9ec61bd8d63ec299c7766f23bca4e0dca2264cd1	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @DISEASE$, and multiple systemic lipomatosis.	false
+212540789e8ac889ddbbedc0d59b417a1970b68e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+560c49cf7b499431d844fd8d2f8ef5db090032a9	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or @DISEASE$ was reported.	false
+d8542fe71400464e87e7e465b5cc592f5da32d0f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ef3124d1b8e88f3e0a80c2ed84f6cb34eff245b3	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+a67663c373d183369bf5e835db1af5fd00a4a76e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+2143c24de21eae4d6c7f872df4eef3af319f80b9	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @DISEASE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+898fec6de5e9943f8b93dabf575051e854cf5dd6	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7f474e99b78313102675500f414cfe2063f6a0ac	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+11455ac1896eabdc2937a7f68369824ee2de6d6b	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+62b74282c2459d833c32ad6f885b9dcac0577af2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7f6403517e0f22c5d56aa33c7ddcc88cb27cb9b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+c67f652f8054e78da7ff7b09707c19275943acae	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+c677e43ac831d38c3b2218e16952544f784685b4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+b4d2e5913b4fc56f133269e216c5e5a023537abd	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ee436fee79aae32686811a27d1e65b26af10cad9	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+71363aa4c687e96894c92377726f2c03b0097899	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+c34238e2a28ad693d66c294446e33e4fb602ea58	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+5403f0bc4b39a58b303075ada313bdbae7f82035	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+11978163fe6f29c8a85e5687f924c7500b765350	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @DISEASE$ occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8188c1047b9fee112b00e970601de0855297c853	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+cb812df10419bc01da1d6f398c3c2d5f978a0b4c	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+fe485c8cbd55a626d52391e184acd413827f1e9d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+ac23657522b9f6cdd29ed61ca0afd9e0801e79ba	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+85f215a23c9aa98a335dc210eb7f4c7cc3195410	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8a3450ad9377b5b6782921f1bccd1c82c77b8555	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+dba29fcc2eaaa269db643d1ae22871fb7d23a38d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+bc568a9fca74bf5b30d2388450f8c9a10d145ac7	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+43f2b63924fea85188e59d86fc52649286cbeace	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @DISEASE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8217b7241d44dca70fe48a1c5945292beab7a2a8	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+38e4c2741907e6b560a530460fdbfd9e189d933f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+32dcb1d2e3da7b4150617133a2cf048f502c821d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+40bea6a0da83bc49927d87431acea16a5b31a4f4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+8e33f4c0896eea599b80df90333864230a0ea29c	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+f7db39d4274e7510049420ce3f0b52fa286a241b	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+a37b59a44242385b67acf61799a5df98fe70eea6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+acbec472abb727147be2883c3783bca88521e97f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+27f3eec565fe8c1b9b11a23f08e51362f65c30b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+fa00735f4840ffe050478575ba004cca660dffcd	@DISEASE$ (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized spasticity, @PHENOTYPICFEATURE$ and dementia.	has_symptom
+518ee99cabad9f2a3df81f0fdb48412301a50cc0	Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized @PHENOTYPICFEATURE$, blindness and @DISEASE$.	false
+0ee52e2e0916e4ac65348fceaa38a57cfbd05728	@DISEASE$ (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized @PHENOTYPICFEATURE$, blindness and dementia.	false
+347993daf2b7f4dffdbdec4afa06f6bf660013ba	Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset @DISEASE$ characterised by neuroregression and hypotonia, evolving into generalized @PHENOTYPICFEATURE$, blindness and dementia.	false
+626fae5ce39e286eb761562da9fd046d40fc4d3e	Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized @PHENOTYPICFEATURE$, @DISEASE$ and dementia.	false
+08d7d2ddc2443ec97f3589391658eefa15f2324c	Children with @DISEASE$ (ADHD) suffer from attention deficits, motor @PHENOTYPICFEATURE$, and impulsive behaviour.	has_symptom
+3cbdf69c286b20c69e88b6bb7b771db3bf525802	Childhood @PHENOTYPICFEATURE$ (@DISEASE$, ADHD) is a behavior disorder affecting 2-6% of grade-school children.	has_symptom
+f333216dc1471cc01706c52d44858b92d167dcc2	In childhood, @DISEASE$ (ADHD) is characterized by age-inappropriate levels of inattentiveness/disorganization, @PHENOTYPICFEATURE$/impulsiveness, or a combination thereof.	has_symptom
+dddfe924079731f6bcd2084a834f11f8f3f47e21	@DISEASE$ (ADHD), a @PHENOTYPICFEATURE$ disorder prevalent among children may continue as an adulthood attention deficit.	has_symptom
+377b0720e6d626061972459d56e4b09ea386b7d2	@DISEASE$ (ADHD) is characterized by inattention, motor @PHENOTYPICFEATURE$, impulsivity, or a combination of all.	has_symptom
+ce32b07e125f3c12982e6f911fb5c15cb22aacd8	Childhood @PHENOTYPICFEATURE$ (@DISEASE$, ADHD) is a common behavior disorder among grade-school children.	has_symptom
+1cf3daf8c16eb0400606fd84bb01f4e87df9a4e8	@DISEASE$ (ADHD) is characterized by inattention, impulsivity, and motor @PHENOTYPICFEATURE$.	has_symptom
+20c1ea65a6664a99b8a408bc1ceb927aa28ba957	@DISEASE$ (ADHD) is a developmental disorder characterized by inattentiveness, motor @PHENOTYPICFEATURE$ and impulsivity.	has_symptom
+5a3b96fa6297145df3d6906c55c34a0c2ea4a8ad	@DISEASE$ (ADHD) is a neurocognitive disorder characterized by symptoms of inattention, impulsivity and motor @PHENOTYPICFEATURE$.	has_symptom
+85e388e923ed90f882408457dd87e5ad06b552df	The cause of childhood @PHENOTYPICFEATURE$ (@DISEASE$) is unknown.	has_symptom
+133069f3d105c5050288b7df3300638944426582	Amyotrophic lateral sclerosis in a patient with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+8c8a24bf41cbe46013e8190e292fc9512f593253	@DISEASE$ remains a public health problem in tropical areas and, although rare, still described in Western countries reason why should still be considered as a diagnostic possibility in the investigation of @PHENOTYPICFEATURE$.	has_symptom
+da236e42962da81734671d652aeac8d304b2ecad	@DISEASE$ causes @PHENOTYPICFEATURE$ (61.3%).	has_symptom
+eb39ba4d356ba15bc79cd987ac1e6015c6d23fa7	A double-blind, randomized, control clinical trial was conducted among 60 patients with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+b74f166cd0b3b71feb2b286d3c9d678e78708195	Slower fingertip blood flow was strongly associated with impairment of vasomotor control in this anatomical region, suggesting that both may be a consequence of @DISEASE$ @PHENOTYPICFEATURE$, at least in patients with early leprosy, but it is likely that leprosy arteriopathy may contribute to the lowered peripheral perfusion in advanced cases.	has_symptom
+1da3854a05835e385fcdb43653af960f0c8c4159	The final diagnosis was joint damage and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+fcb92cd87620bd2b45e0510d08b0b9a381650f69	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d5cad214b5a44d593e46781f7c326a9e9315a997	@DISEASE$ (FHL) is a rapidly fatal illness, usually encountered in infancy, characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, pancytopenia, and central nervous system involvement.	has_symptom
+97ec6b5b1f5904819ad74ba4484e65ba4f42690c	@DISEASE$ (FHL) is a disorder of immune homeostasis characterized by @PHENOTYPICFEATURE$, cytopenias, hepatosplenomegaly, and coagulopathy.	has_symptom
+7e5d73756c6fe52415ee8530c690ef456bcea32a	@DISEASE$ (FHL) is a rare autosomal recessive lethal condition characterized by @PHENOTYPICFEATURE$, cytopenia, hepatosplenomegaly and hemophagocytosis.	has_symptom
+ffa2003328a51639e1289d2392d67f04bf3cb1d3	@DISEASE$ (HLH) is a life-threatening condition that clinically characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, and cytopenia.	has_symptom
+7e5d73756c6fe52415ee8530c690ef456bcea32a	@DISEASE$ (FHL) is a rare autosomal recessive lethal condition characterized by @PHENOTYPICFEATURE$, cytopenia, hepatosplenomegaly and hemophagocytosis.	has_symptom
+bbab4c02867ea28af904ed6f8da82448e4e1d1f2	@DISEASE$ (HLH) is an autosomal recessive disorder with very high mortality rates, mainly affecting infants and young children, which is characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, and cytopenias.	has_symptom
+a0750f4db12b8e1a5e46012cfc3ac633f7855d12	@DISEASE$ (HLH) is an autosomal recessive disorder of immune regulation characterized by @PHENOTYPICFEATURE$, splenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia.	has_symptom
+d1d8f2ec3fdd5aa0caea3a862a9bc758c0feca13	The etiology of @DISEASE$ (FHL), which is characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, pancytopenia, and coagulopathy, remains unknown.	has_symptom
+8e18d8d2321dff0b654e4801d73c4c5840fbb851	@DISEASE$ (FHL) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome responsible for @PHENOTYPICFEATURE$, hepatosplenomegaly, cytopenia, and coagulopathy.	has_symptom
+3d59e5d1a4f252e5c856f4c590168c84490e1310	@DISEASE$ (FHLH) is an autosomal recessively inherited multisystem disease characterized by @PHENOTYPICFEATURE$, rash, splenomegaly, cytopenias, and variable central nervous system (CNS) manifestations.	has_symptom
+0ed2c87300feb57691d9e603301deeeaf69a8d88	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and spastic quadriplegia.	has_symptom
+66b370ab46e71a74eec05c12838b537f9152290b	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+4fd906f5381fd34a47d4be96a2d76599a6b1811c	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, @DISEASE$, peripheral neuropathy, and spastic quadriplegia.	false
+ca7a4fc99232b12572e27e20d6685e43b26e205f	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+2300556389302ae16e0b5583148ef7fb0709c889	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0210e97d50f8a48fa11f7cab025976abf4973d2c	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+344d02b8ad7eb6ffed5f7874728d23f24e22cbe9	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, peripheral neuropathy, and spastic quadriplegia.	false
+7bd662e2941853c405aef238a451e7d831f122ad	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+96e05a7fcd384b476772ca3b786229f98a45a680	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @DISEASE$, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+1d0a976615e0bad3196baada6dac00611f0f9773	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+a9353d54603e92b508b7d55e6460c1f997071d23	@DISEASE$ is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, @PHENOTYPICFEATURE$, developmental delay, neuropathy, and photosensitivity.	has_symptom
+c595177a838f347d28bac2786e4b399f4534a314	Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including @PHENOTYPICFEATURE$, microcephaly, developmental delay, @DISEASE$, and photosensitivity.	false
+7fefcdf0ce8f5c79b3201bf972306ccd5a758981	Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, neuropathy, and photosensitivity.	false
+5251a15e137455b7b7621983b0f68a52bfee5939	@DISEASE$ is an autosomal recessive, heterogeneous syndrome with classical features, including @PHENOTYPICFEATURE$, microcephaly, developmental delay, neuropathy, and photosensitivity.	false
+64b9082da8d0311a35f661d9535c0fbc3b5cdc62	@DISEASE$ is a rare autosomal recessive condition comprising @PHENOTYPICFEATURE$, "cachectic dwarfism" and progressive neurological degeneration.	has_symptom
+3798569435e00e163eda0af313c3f0582079d116	@DISEASE$ (CS) is a rare, autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, impaired postnatal growth, and premature pathological aging.	has_symptom
+f0ee1936c945643c5a33f0ff0d80304c251e97f9	@DISEASE$, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @PHENOTYPICFEATURE$, senile face, short stature, and cachectic habitus.	has_symptom
+8c27a29de5c3baaf871904e3f042b1dc2f3a49e7	@DISEASE$, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, @PHENOTYPICFEATURE$, and cachectic habitus.	false
+71862e77fd419bde5f3c5dd750cb0bb230d80140	@DISEASE$, one of the progeroid syndromes, was suspected because of @PHENOTYPICFEATURE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, short stature, and cachectic habitus.	false
+ec86d1024acc71db848cf0479fc6f309119990e4	Cockayne syndrome, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @DISEASE$, senile face, @PHENOTYPICFEATURE$, and cachectic habitus.	false
+a18db10e50526dbcd009b6c7f676ae7c3ac90a2d	Cockayne syndrome, one of the progeroid syndromes, was suspected because of @PHENOTYPICFEATURE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @DISEASE$, senile face, short stature, and cachectic habitus.	false
+3bc496b68e92199fbb7a859c07906071e938d2bc	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included failure to thrive, @PHENOTYPICFEATURE$, peripheral neuropathy and elevated level of protein in CSF.	has_symptom
+4f7b3257b0fb52cd567d6cc3e2b55b93341203a9	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included @PHENOTYPICFEATURE$, @DISEASE$, peripheral neuropathy and elevated level of protein in CSF.	false
+a972ba81f53e8308f3ee82c10728c4db45bb4595	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included failure to thrive, microcephaly, @PHENOTYPICFEATURE$ and elevated level of protein in CSF.	false
+17c44f1c4cd3b5366542610861e10d8aa8a876f9	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, @DISEASE$, @PHENOTYPICFEATURE$ and elevated level of protein in CSF.	false
+e8263404bbe41ece5382db9dc287b89618b00646	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy and elevated level of protein in CSF.	false
+7ffc677f2a9eb5b1b0b4250f2bb1ac1c2968717c	Back @DISEASE$ (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, @PHENOTYPICFEATURE$, mental retardation, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	has_symptom
+bb37a6cbe88d33078d6dab6732a02dbbe7f12e44	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, @PHENOTYPICFEATURE$, retinal @DISEASE$ degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+bdb6be73bddea388024df7a0ad441477730c40de	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, @DISEASE$, mental retardation, retinal pigmentary degeneration, @PHENOTYPICFEATURE$, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+82913a878a440d99ce3b9cd9c56fae8a5f9a671c	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation, retinal @DISEASE$ degeneration, @PHENOTYPICFEATURE$, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+ea5332e1d21e6f3ce7e6fa8c74657b80771f3f54	Back @DISEASE$ (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, mental retardation, retinal pigmentary degeneration, @PHENOTYPICFEATURE$, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+f2f1a99f36187338e66dcd1ecc5e98986dbfbd8f	Back Cockayne syndrome (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, @DISEASE$, @PHENOTYPICFEATURE$, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+6a3263b79d6501eb17dcd7b963d7812b39edae3a	Back @DISEASE$ (CS; MIM 133540-216400) is a rare autosomal recessive neurodegenerative disorder characterized by progressive growth failure, microcephaly, @PHENOTYPICFEATURE$, retinal pigmentary degeneration, deafness, photosensitivity, accelerated systemic degeneration of somatic tissue, and premature death.	false
+d7618ab9f92caad0e68d3150ece0cf00d13cca13	When cardinal features are lacking, the diagnosis of @DISEASE$ should be considered when presented with growth retardation, @PHENOTYPICFEATURE$, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	has_symptom
+06a6dd71df293a76faadbf7542ac643ec6f5b8a2	When cardinal features are lacking, the diagnosis of @DISEASE$ should be considered when presented with @PHENOTYPICFEATURE$, microcephaly, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	false
+2eb9118a60f791adca72cb80d6514e98eaff0862	When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with @PHENOTYPICFEATURE$, microcephaly, and one of the suggesting features such as enophthalmia, limb @DISEASE$, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	false
+fc8bd7de38e0bd09e868697f448a27bf577519bf	When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with @PHENOTYPICFEATURE$, @DISEASE$, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	false
+b428c777c5c2530e5e58abb666afd8659c281264	@DISEASE$ is caused by biallelic ERCC8 (CSA) or ERCC6 (CSB) mutations and is characterized by growth restriction, @PHENOTYPICFEATURE$, developmental delay, and premature pathological aging.	has_symptom
+9daca5f37c165072055d4c46043b3a9b1469d53c	@DISEASE$ is an autosomal recessive multisystem disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	has_symptom
+9439a491170cc5e64a0cd963fd0f5a6ae7f38fcc	@DISEASE$ is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	false
+11a8117e163cea5271c89fe06874052be0577f50	Cockayne syndrome is an autosomal recessive @DISEASE$ characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	false
+23e3538e05e5cf6062b5aecdaf809a0f2c8a54e7	Cockayne syndrome is an autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+a101f8140a0a9aa4e223eb07a908a437f4651ba2	@DISEASE$ is an autosomal recessive multisystem disorder characterized by @PHENOTYPICFEATURE$, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+f48ca320eb4aaf2ebbb9211de8aa14826c1ebee0	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, @DISEASE$, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	false
+1bf7128c135628a4d939e507ef0f5d0a48dba9cf	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+f066c76b95c04832beadd4dbe3cc9d9a12f819f8	@PHENOTYPICFEATURE$ manifests in several hereditary diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PMC), and @DISEASE$ (PAM).	has_symptom
+b95af5211050c3ac0f6b8b466423047fe4128c6b	We describe two previously healthy unrelated teenage girls, who both were admitted with @PHENOTYPICFEATURE$ and visual symptoms leading to a DNA-supported diagnosis of juvenile-onset @DISEASE$.	has_symptom
+dba29fcc2eaaa269db643d1ae22871fb7d23a38d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+71363aa4c687e96894c92377726f2c03b0097899	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+560c49cf7b499431d844fd8d2f8ef5db090032a9	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or @DISEASE$ was reported.	false
+d8542fe71400464e87e7e465b5cc592f5da32d0f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ef3124d1b8e88f3e0a80c2ed84f6cb34eff245b3	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+898fec6de5e9943f8b93dabf575051e854cf5dd6	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7f474e99b78313102675500f414cfe2063f6a0ac	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+826b2d7cdbcbba7b37e603ff19c9959da3ce93d4	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+11455ac1896eabdc2937a7f68369824ee2de6d6b	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+212540789e8ac889ddbbedc0d59b417a1970b68e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+66600f101a199f1dc15ab9c36c8fbf6345c099e2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7f6403517e0f22c5d56aa33c7ddcc88cb27cb9b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+c67f652f8054e78da7ff7b09707c19275943acae	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+c677e43ac831d38c3b2218e16952544f784685b4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+b4d2e5913b4fc56f133269e216c5e5a023537abd	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ee436fee79aae32686811a27d1e65b26af10cad9	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+5403f0bc4b39a58b303075ada313bdbae7f82035	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+573cf6f0eb7e8ff7df6d503eb2859d4abe8764e2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @DISEASE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+377a65c1860bb3c50ee132ef19380cafffcdb74a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+743c1ff8c2ad71a3f2a845870e74eb46d57642d2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently @DISEASE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+86cf1806aa10168fea60d120486cfe9b491e91a6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+5a8d95578f47b3e7d79903ea81fcfdb128b8bc7c	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8188c1047b9fee112b00e970601de0855297c853	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+57a1070086fa81cbb915df4c549d9605668a5cc0	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @DISEASE$, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+c98e7cbe7c252728a49a5c028c88b98293de79fa	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+794c573c0c5897fff46d73c169a8015c2e50a027	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+85f215a23c9aa98a335dc210eb7f4c7cc3195410	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ac23657522b9f6cdd29ed61ca0afd9e0801e79ba	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8a3450ad9377b5b6782921f1bccd1c82c77b8555	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+bc568a9fca74bf5b30d2388450f8c9a10d145ac7	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+2d79c46b6ad65565cbbb07c6d013c97b3d0b8ed6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+32dcb1d2e3da7b4150617133a2cf048f502c821d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+40bea6a0da83bc49927d87431acea16a5b31a4f4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+8e33f4c0896eea599b80df90333864230a0ea29c	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+f7db39d4274e7510049420ce3f0b52fa286a241b	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+d76ace2ee80678e11e2a0f1e795086bab8bbf796	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7d4b160abdb6554d1c43a92967db5685a98c064a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+27f3eec565fe8c1b9b11a23f08e51362f65c30b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+e780790212921f1ee559debdd5d9393c7ebec9c3	Patients showed heterogeneous phenotypes including @DISEASE$ in four, MELAS in six, unclassified mitochondrial myopathy in 10, cardiomyopathy in five, MERRF in one, pure lactic acidosis in six, and others in 12 including facio-scaplo-femoral muscular dystrophy (FSFD), familial cerebellar ataxia, recurrent Reye syndrome, cerebral palsy with @PHENOTYPICFEATURE$.	has_symptom
+52823ca1f82bff7baf1d9a65604565e8cd7aa1a0	Patients showed heterogeneous phenotypes including @DISEASE$ in four, MELAS in six, unclassified mitochondrial myopathy in 10, cardiomyopathy in five, MERRF in one, pure lactic acidosis in six, and others in 12 including facio-scaplo-femoral muscular dystrophy (FSFD), familial @PHENOTYPICFEATURE$, recurrent Reye syndrome, cerebral palsy with mental retardation.	false
+c4dc02568c5756204ee39a7541cc19745c773c0f	Patients showed heterogeneous phenotypes including Leigh disease in four, MELAS in six, unclassified mitochondrial myopathy in 10, cardiomyopathy in five, MERRF in one, pure lactic acidosis in six, and others in 12 including facio-scaplo-femoral @DISEASE$ (FSFD), familial @PHENOTYPICFEATURE$, recurrent Reye syndrome, cerebral palsy with mental retardation.	false
+99b72d10987e29c7944bf6ae9e0395556142d3b9	Patients showed heterogeneous phenotypes including Leigh disease in four, MELAS in six, unclassified @DISEASE$ in 10, cardiomyopathy in five, MERRF in one, pure lactic acidosis in six, and others in 12 including facio-scaplo-femoral muscular dystrophy (FSFD), familial @PHENOTYPICFEATURE$, recurrent Reye syndrome, cerebral palsy with mental retardation.	false
+ed955732f1edfcce1f627b20857921dc25a5f8da	Patients showed heterogeneous phenotypes including Leigh disease in four, MELAS in six, unclassified mitochondrial myopathy in 10, cardiomyopathy in five, MERRF in one, pure lactic acidosis in six, and others in 12 including facio-scaplo-femoral muscular dystrophy (FSFD), familial @PHENOTYPICFEATURE$, recurrent Reye syndrome, cerebral palsy with @DISEASE$.	false
+cf5d5b5bdfc53d6b9ea22c387914fd93394aa074	Patients showed heterogeneous phenotypes including Leigh disease in four, MELAS in six, unclassified mitochondrial myopathy in 10, @DISEASE$ in five, MERRF in one, pure lactic acidosis in six, and others in 12 including facio-scaplo-femoral muscular dystrophy (FSFD), familial @PHENOTYPICFEATURE$, recurrent Reye syndrome, cerebral palsy with mental retardation.	false
+05cc8fde3916ce78febd9c4923af13b9bb21509b	Biallelic variants in COX4I1 associated with a novel phenotype resembling @DISEASE$ with developmental regression, @PHENOTYPICFEATURE$, and seizures.	has_symptom
+b711cefcecead624aec83cd37a8349f380ac505c	Biallelic variants in COX4I1 associated with a novel phenotype resembling @DISEASE$ with developmental regression, intellectual disability, and @PHENOTYPICFEATURE$.	false
+ea29d43bdff692ec324138f0af0fb752fbbca461	Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+bed88a26481f5f8d47984fd62d515bdc990420a7	Previous patients with this mutation have presented with @PHENOTYPICFEATURE$ and/or @DISEASE$, while our patient's clinical outcome is exceptional.	has_symptom
+27f6bbd36443c04df64fc194066f9a465aa36875	To characterize the different types of hypertrophic cardiomyopathy [typical (subaortic) @DISEASE$ (HOCM) (n = 235), atypical (midventricular or apical) HOCM (n = 33), and hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM) (n = 85)], studies of the clinical picture, course, and prognosis were performed in 353 patients.	has_symptom
+ed190653b07781c000919d978d53440d89a1d9e2	To characterize the different types of @DISEASE$ [typical (subaortic) hypertrophic obstructive cardiomyopathy (HOCM) (n = 235), atypical (midventricular or apical) HOCM (n = 33), and hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM) (n = 85)], studies of the clinical picture, course, and prognosis were performed in 353 patients.	has_symptom
+b25a52622f70f4cd1a40df7285060462a7ccced6	The present study was designed to elucidate the effect of intravenous administration of 1.4 mg/kg of cibenzoline on aortic and LV pressures, and transmitral Doppler flow pattern in 7 patients with @DISEASE$ (HOCM) and 9 patients with hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM).	has_symptom
+e9ade187a3ac5ef00218089ca4a85ea449588fb4	The sympatho-vagal function was evaluated by spectral analysis of heart rate variability in 28 patients with @DISEASE$, 22 patients with hypertrophic non-obstructive @PHENOTYPICFEATURE$, 12 with systemic hypertension and left ventricular hypertrophy and 28 healthy subjects.	has_symptom
+8b3b6ee1f1bb7af1b806cccf820c55dff544fd42	The sympatho-vagal function was evaluated by spectral analysis of heart rate variability in 28 patients with @DISEASE$, 22 patients with hypertrophic non-obstructive cardiomyopathy, 12 with @PHENOTYPICFEATURE$ and left ventricular hypertrophy and 28 healthy subjects.	false
+974b0a31e9b81dc42ff28fea0f8cbb3b2d45faa6	The sympatho-vagal function was evaluated by spectral analysis of heart rate variability in 28 patients with hypertrophic obstructive cardiomyopathy, 22 patients with hypertrophic non-obstructive @DISEASE$, 12 with @PHENOTYPICFEATURE$ and left ventricular hypertrophy and 28 healthy subjects.	false
+b735ead9372bb04ba5cedd5359f1e232da47ae9d	In patients with @DISEASE$ (HOCM), hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM), and hypertensive heart disease (HHD), regional systolic function of normal and hypertrophic septal regions has been incompletely characterized by 2-dimensional echocardiography.	has_symptom
+82c38541905442d8a0687114bbba7a03766325c2	2. Fourteen patients with @DISEASE$ (HOCM), 26 patients with hypertrophic non-obstructive @PHENOTYPICFEATURE$ (HNCM) and 14 normal control subjects participated in this study.	has_symptom
+318e7c4863982d96903289ee5d8f8e77af389027	Coronary flow velocity reserve was assessed in 11 patients with @DISEASE$ (HOCM) and 12 patients with hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM), before and after the intravenous administration of cibenzoline (1 mg/kg).	has_symptom
+bd83e036a117231e48e8aacaf81a965ca92a463e	Three of the 12 patients had hypertrophic non-obstructive @PHENOTYPICFEATURE$, and three had apical @DISEASE$.	has_symptom
+7bbf394d3498b94132aef7a757a5913f59f656f9	We conclude that these findings are typical for AH (HNCM) and it seems that hypertrophic obstructive cardiomyopathy (IHSS, MO), and hypertrophic non-obstructive @PHENOTYPICFEATURE$ (ASH, AH) are different manifestations of a wide spectrum of @DISEASE$.	has_symptom
+fd0b3b18621b956b199cb09f232c7f51c365e420	We conclude that these findings are typical for AH (HNCM) and it seems that @DISEASE$ (IHSS, MO), and hypertrophic non-obstructive @PHENOTYPICFEATURE$ (ASH, AH) are different manifestations of a wide spectrum of hypertrophic cardiomyopathy.	has_symptom
+7659cb19abe4bbb0020da964c6236a3e8c3648ba	The diameters of the coronary arteries and their peripheral branches were measured on coronary angiograms obtained from 9 patients with @DISEASE$ (HOCM), 6 patients with hypertrophic non-obstructive @PHENOTYPICFEATURE$, and 6 normal controls.	has_symptom
+5b76b1ecec23c8b78b47fd1396d937ab15053946	The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as @DISEASE$ (HCM), arrythmogenic right/left ventricular @PHENOTYPICFEATURE$ (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM).	has_symptom
+2299db8fcc74ab1549b4b41cbe6236616b8adcac	Decompensated @DISEASE$ ventricular hypertrophy developed as a result of coronary artery narrowing, renal @PHENOTYPICFEATURE$, or the two in combination.	has_symptom
+128de4d534b72aee7845aa795aa27ea08934459c	Within the @PHENOTYPICFEATURE$ subgroups, the coronary flow reserve was differentially reduced in the following rank order: concentric remodeling (2.0 +/- 0.7) approximately concentric hypertrophy (2.3 +/- 0.8) < @DISEASE$ hypertrophy (2.9 +/- 0.6) mu normal geometry (2.7 +/- 0.4).	has_symptom
+fa275b1ce023270479f27fb79bf9621e8dd93a95	However further investigations suggested the possibilities of carcinoma of stomach associated with @DISEASE$, multiple myeloma and @PHENOTYPICFEATURE$.	has_symptom
+6e87fc34f044787e72912b9025510c148f7ee7a0	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	has_symptom
+43d0fff06e03da72f6d7d2e3c75305dc6e4da7e0	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, @PHENOTYPICFEATURE$, and @DISEASE$ (CDMMR).	false
+051842bd2b4a6e66899a1ce2cccaa19cd17caad8	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause @PHENOTYPICFEATURE$, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and @DISEASE$ (CDMMR).	false
+d756867a8b587466e001545911c4052b09a08458	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, @PHENOTYPICFEATURE$, and mental retardation (CDMMR).	false
+5e5dcf2d973d975ea2b5c72c52b4398b4d4b612d	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause @PHENOTYPICFEATURE$, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR).	false
+3f1cb5c25e5117c9b7c2920db74e5d2e8e4db69a	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, @PHENOTYPICFEATURE$, and mental retardation (CDMMR).	false
+c874afe93180319c0f9cbb9ef9824fa58554837c	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause @PHENOTYPICFEATURE$, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR).	false
+47223ea34d9f86677483caa40a536b1be5779265	MYH9-related disease ( @DISEASE$) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive @PHENOTYPICFEATURE$, presenile cataract, and renal damage.	has_symptom
+5c706a543c45ea4bc32c5319cae65b2a255e6b72	The ELT tolerance in the analyzed group was good, with the exception of the child with @DISEASE$, who experienced an exacerbation of @PHENOTYPICFEATURE$ and had to discontinue treatment.	has_symptom
+574229d9eb836572478d0bc1b7c465d3d062e2a0	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and @DISEASE$.	has_symptom
+7bffe6f05bff62702801fbd82bc9b242c995c6b2	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cadiomyopathy, developmental delay, vomiting, @DISEASE$, metabolic acidosis, and malonic aciduria.	false
+f89a6cb60c2d6b287f0f72fa91dfcbe9c3560124	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and @DISEASE$.	false
+b66ab71eb43f6c743689a954b9b23470d8224e57	Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cadiomyopathy, developmental delay, @DISEASE$, hypoglycemia, metabolic acidosis, and malonic aciduria.	false
+b242b4049c437e45c7ec3cf55efb285c3f4b2b30	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, @PHENOTYPICFEATURE$, hypoglycemia, metabolic acidosis, and @DISEASE$.	has_symptom
+c1276f8fe59eb7dd38bcd36e2e1aac5d87b03637	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cardiomyopathy, @DISEASE$, hypoglycemia, metabolic acidosis, and malonic aciduria.	false
+1ca4b3869cf4fedd0cfe6bf7cfd9adb6285761f7	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria.	false
+adda584deb4233882707156c27fa2ca36f275b7a	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cardiomyopathy, vomiting, @DISEASE$, metabolic acidosis, and malonic aciduria.	false
+c6706ca4aabeda2b2f011f8f66a06234f6d7bcf9	The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, @PHENOTYPICFEATURE$, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and @DISEASE$.	false
+2ab36b14c768f24c49110c97bdf773c77aab6520	@DISEASE$ (CCM) is characterized by micrognathia, @PHENOTYPICFEATURE$, rib defects, and frequently, mental deficiency.	has_symptom
+354ba8246463618d1846eb0c42b5ea092f3acc2f	Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, @DISEASE$, rib defects, and frequently, @PHENOTYPICFEATURE$.	false
+bd458ccc8d58db5c9c86c4d4f18711e9a2ac7447	Cerebrocostomandibular syndrome (@DISEASE$) is characterized by micrognathia, cleft palate, rib defects, and frequently, @PHENOTYPICFEATURE$.	false
+d08dc017c3defec5934b1eb0b82e94d594428526	Cerebrocostomandibular syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, cleft palate, rib defects, and frequently, mental deficiency.	false
+4f0b06e1f9ad6276217b5d972f4e5243235e917a	@DISEASE$ (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, @PHENOTYPICFEATURE$.	false
+2d749a193f672a74fc38c5c453901987e8284fd2	Cerebrocostomandibular syndrome (CCM) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, rib defects, and frequently, mental deficiency.	false
+3692af4c2729d85b1d97d98818dfab9abd3201cb	@DISEASE$ (CCM) is characterized by @PHENOTYPICFEATURE$, cleft palate, rib defects, and frequently, mental deficiency.	false
+a6699b251e836b2b7389bd5ab8f9944e0102ab0b	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, @PHENOTYPICFEATURE$, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	has_symptom
+bcb862adb6356c398bd7275ad9ce7e5ec7596bd3	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: @PHENOTYPICFEATURE$, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+8ad080310350e016e6e0e1786e54c94680418c02	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched @DISEASE$, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+d04608006b9f7fb428eedce14b4ba6ed80c356d0	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, @DISEASE$, high-arched palate, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+26bb7a214aed1ea0eb2f8ff5f3aeceffd0ab8ca9	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, micrognathia, high-arched palate, @PHENOTYPICFEATURE$, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+446b3d97e1931d534229864adb40b075c40e7e72	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @PHENOTYPICFEATURE$, @DISEASE$, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+78770e5028077c31e98f89396137522ac238928c	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+e71796eba0a2430cfeedcd92535257a782432ab8	The proband had clinical symptoms compatible with diagnosis of @DISEASE$: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+5bc82e87c6d3f6169fe4a0a03d294428f90e3e69	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: @PHENOTYPICFEATURE$, micrognathia, high-arched @DISEASE$, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome.	false
+d0d8658bc6a0089b92071612b385455f6ea436bd	The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, @DISEASE$, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and @PHENOTYPICFEATURE$, but no cell-mediated immunodeficiency typical for the syndrome.	false
+9ccb21750453c5e87f29dc72986ac7ae6e666be0	The craniofacial database of Seattle Children's Hospital was searched to identify patients with one of the following diagnoses: @PHENOTYPICFEATURE$, secondary cleft palate, branchial arch anomalies, Pierre Robin sequence (PRS), or @DISEASE$.	has_symptom
+4578b19940dbd0e29ae3589858b1f9a83aafc790	The craniofacial database of Seattle Children's Hospital was searched to identify patients with one of the following diagnoses: @DISEASE$, secondary @PHENOTYPICFEATURE$, branchial arch anomalies, Pierre Robin sequence (PRS), or velocardiofacial syndrome.	false
+f6df560c57ab6ee56067d4a00051a1e5ef06a416	The craniofacial database of Seattle Children's Hospital was searched to identify patients with one of the following diagnoses: micrognathia, secondary @PHENOTYPICFEATURE$, branchial arch anomalies, Pierre Robin sequence (PRS), or @DISEASE$.	false
+cf6619856af8ea48211f9b4baec840a94d416c6b	Rapid maxillary expansion treatment produced a significant increase in the hearing levels and middle ear volumes of all non-cleft and bilateral @DISEASE$ patients with normal hearing levels and with mild @PHENOTYPICFEATURE$, during the T0-T1, T1-T2, T0-T2, and T0-T3 observation periods (p<0.05).	has_symptom
+f99e4ddab8e7d8f9205ce6260e60e7c37dd1508c	@DISEASE$ children have chronic otitis media related to Eustachian Tube dysfunction and associated @PHENOTYPICFEATURE$.	has_symptom
+f9a6af6eb5688033a7414aca0ab7c579f23b22ef	It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, @PHENOTYPICFEATURE$, ocular abnormalities, and @DISEASE$.	has_symptom
+50887f1d3daf09e2983a01091ac6a8c26601e765	Children with @DISEASE$ have a high prevalence of otitis media with effusion (OME) which is often associated with a fluctuating, @PHENOTYPICFEATURE$ in the low and mid-frequencies and a risk for permanent hearing loss in the higher frequencies.	has_symptom
+f4c0e58a13c86034ec03526adfad0b9630e45008	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as @DISEASE$, and various secondary issues such as chronic sinusitis, otitis media, and @PHENOTYPICFEATURE$ (CHL).	has_symptom
+3b25d1b05d8edefc060aa27c893e031b505023af	Ankyloblepharon-ectodermal defects-@DISEASE$ (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as cleft lip and palate, and various secondary issues such as chronic sinusitis, otitis media, and @PHENOTYPICFEATURE$ (CHL).	has_symptom
+10b3bd35d372ca3016ad8a15c26e6487d96e4130	Objective : Children with @DISEASE$ or cleft palate only have a high incidence of @PHENOTYPICFEATURE$ from otitis media with effusion.	has_symptom
+1d08c3fd4c095ed6d03553368609c499e3f9f973	Objective : Children with cleft lip and palate or @PHENOTYPICFEATURE$ only have a high incidence of @DISEASE$ from otitis media with effusion.	false
+6af601a011bb78df77e07bf2cedbbe9ab1880cfa	Objective : Children with cleft lip and palate or @PHENOTYPICFEATURE$ only have a high incidence of conductive hearing loss from @DISEASE$.	false
+f51a34976706cd8b9ac8d7e3b0deb2bfe4f17ec4	Objective : Children with @DISEASE$ or @PHENOTYPICFEATURE$ only have a high incidence of conductive hearing loss from otitis media with effusion.	false
+773770317824882714ac69c943c4ebb8f742b355	Complete bilateral @DISEASE$ was associated with @PHENOTYPICFEATURE$ in 29 (42,9%) ears examined, thus occupying the last but one place according to the frequency of association between deafness and cleft defects.	has_symptom
+cb41218ba15396ddeaacfc8a50cfb21b8ce8c53e	Complete bilateral cleft lip and palate was associated with @DISEASE$ in 29 (42,9%) ears examined, thus occupying the last but one place according to the frequency of association between @PHENOTYPICFEATURE$ and cleft defects.	false
+e6cf767cae948dad5d160d8a280f7978f6e85b6e	Complete bilateral @DISEASE$ was associated with conduction deafness in 29 (42,9%) ears examined, thus occupying the last but one place according to the frequency of association between @PHENOTYPICFEATURE$ and cleft defects.	false
+7b2cabb33389e4ff680ff7692a3db021a1d51171	@PHENOTYPICFEATURE$ is a serious disease induced by several conditions, including @DISEASE$.	has_symptom
+46023245f71e19e00cb6ea34ab8760ccf6429c1b	Three newborn infants with @PHENOTYPICFEATURE$ had hemodynamic, angiographic, and echocardiographic features of hypertrophic subaortic stenosis (@DISEASE$).	has_symptom
+1a5da71bdf3cd9a04802dd2cb4d44cbd91baa57d	Three newborn infants with @PHENOTYPICFEATURE$ had hemodynamic, angiographic, and echocardiographic features of @DISEASE$ (hypertrophic obstructive cardiomyopathy).	has_symptom
+01d45cf38baee29fe256bd2468d28e1caeb43eaf	[Refractory @PHENOTYPICFEATURE$ and sepsis in a patient with @DISEASE$].	has_symptom
+9e4f3a00c7e97d99be627502f247d7e86f47f56f	Clinicopathological profiles of progressive @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+d49d92c612b8732f48ecb8334e5b92e76736abbb	Left atrial function was reduced in cats with hypertrophic cardiomyopathy and @PHENOTYPICFEATURE$ compared with healthy and asymptomatic @DISEASE$ groups.	has_symptom
+3bce47d5eba9d88a9472ce87dd840017bf8d9eca	Left atrial function was reduced in cats with @DISEASE$ and @PHENOTYPICFEATURE$ compared with healthy and asymptomatic hypertrophic cardiomyopathy groups.	has_symptom
+8b82702c4997c3f93114346add0b033df4488c5b	Why do patients with @DISEASE$ have @PHENOTYPICFEATURE$ symptoms?	has_symptom
+03e8df8ad11dc8d057960b58a21839b1426ce6e8	@PHENOTYPICFEATURE$ is rare in @DISEASE$ (HCM).	has_symptom
+39d8148df476946e7a8adf142c9e46cec4c1e10d	Late stages of @DISEASE$ (HCM) result in medically refractory @PHENOTYPICFEATURE$.	has_symptom
+9f2607bda24fd591755e30d5b866f52435868c0a	Global longitudinal strain is associated with @PHENOTYPICFEATURE$ outcomes in @DISEASE$.	has_symptom
+95f90be9afaf27617173f0dacc0c2f31da46c317	A retrospective study of 61 client-owned, 21 healthy, 21 asymptomatic hypertrophic cardiomyopathy and 19 with @DISEASE$ and @PHENOTYPICFEATURE$ cats.	has_symptom
+ed23748e566aabbf47e26f18eb8a1f744c025821	A retrospective study of 61 client-owned, 21 healthy, 21 asymptomatic @DISEASE$ and 19 with hypertrophic cardiomyopathy and @PHENOTYPICFEATURE$ cats.	has_symptom
+4fa82ce61ee7ecb5511d4d9595606142ef30823a	We previously reported two siblings with decreased subcutaneous adipose tissue, @PHENOTYPICFEATURE$, joint contractures, recurrent skin eruptions, @DISEASE$-gamma-globulinemia, and reduced natural killer cell activity.	has_symptom
+afbb6d7046d64037db58fcf946cb804f29311aa2	We previously reported two siblings with decreased subcutaneous adipose tissue, muscular atrophy, @PHENOTYPICFEATURE$, recurrent skin eruptions, @DISEASE$-gamma-globulinemia, and reduced natural killer cell activity.	false
+f71753c0c6e67f90ea42cd440b285c2176521b22	We previously reported two siblings with decreased subcutaneous adipose tissue, @DISEASE$, @PHENOTYPICFEATURE$, recurrent skin eruptions, hyper-gamma-globulinemia, and reduced natural killer cell activity.	false
+c8c1833348d314858bf443b3bf362b251e06ceb0	Hereditary lipo-@PHENOTYPICFEATURE$ with joint contracture, skin eruptions and @DISEASE$-gamma-globulinemia: a new syndrome.	has_symptom
+fc5bd04a9442a2da9f0c729551e378a5f62308ff	Hereditary lipo-muscular atrophy with @PHENOTYPICFEATURE$, skin eruptions and @DISEASE$-gamma-globulinemia: a new syndrome.	false
+ad5ba023ed75c027254b3ea5c010bc77becc262c	Hereditary lipo-@DISEASE$ with @PHENOTYPICFEATURE$, skin eruptions and hyper-gamma-globulinemia: a new syndrome.	false
+ab4b0120deb51db99504508dd582d05f1aad3d6c	An autopsy case of a syndrome with @PHENOTYPICFEATURE$, decreased subcutaneous fat, skin eruption and @DISEASE$ gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.	has_symptom
+fc8d5c3ed47f832d6a080bde4b78894d99e6bb44	@DISEASE$-catabolism, including weight loss and @PHENOTYPICFEATURE$, is seen in HD patients and HD mouse models.	has_symptom
+83e7a6d21f80258ea6aea9090f70bf93e1383047	Only recently, mutations in this gene have been shown to result in @DISEASE$ (PHS), defined by severe MR, epilepsy, mild @PHENOTYPICFEATURE$, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	has_symptom
+81ec846084fcfc2391f34f52456cb5b0192bf5b0	Only recently, mutations in this gene have been shown to result in @DISEASE$ (PHS), defined by severe MR, epilepsy, mild growth retardation, @PHENOTYPICFEATURE$, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+39769b6d09aaa07002ada0a6a4eb1a43e62fed48	Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (PHS), defined by severe MR, epilepsy, mild @DISEASE$, @PHENOTYPICFEATURE$, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+416a818ecd6d87616ad97faded260bd299fec11c	Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (@DISEASE$), defined by severe MR, epilepsy, mild growth retardation, @PHENOTYPICFEATURE$, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+f1163e9731462885e1b14d739c9157813d51d598	These are familial hypercholesterolemia (LDL receptor gene: LDLR); familial ligand-defective apoB- 100 (apoB gene: APOB); autosomal recessive @PHENOTYPICFEATURE$ (ARH gene); @DISEASE$ (ABCG5 or ABCG8 genes) and cholesterol 7alpha-hydroxylase deficiency (CYP7A1 gene).	has_symptom
+232c76552937de0f0e383bae2631e7e8139752f6	Our study suggests that patients develop severe @PHENOTYPICFEATURE$ and xanthomas at early age should be suspected of @DISEASE$.	has_symptom
+25600a47d52a89e13cc72531859e897a7dac4edf	We report here a @DISEASE$ patient who presented with multiple xanthomas and profound @PHENOTYPICFEATURE$ since 3 years old.	has_symptom
+4753565c344c95909ab612348d1138d2229fec0c	Accordingly, she was suspected as a recessive form of hypercholesterolemia, such as @DISEASE$ or autosomal recessive @PHENOTYPICFEATURE$. Whole exome sequencing was performed on 4 individuals, including the proband, her parents, and her unaffected younger sister.	has_symptom
+8f608d5d731f245bcc83211f4b24de7e7a44eb5e	@DISEASE$ is characterized by elevated plasma levels of plant sterols, @PHENOTYPICFEATURE$ and premature coronary heart disease (CHD).	has_symptom
+68017d3f512ddead04b12ed01cca37ee95009900	Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive @PHENOTYPICFEATURE$ (ARH) or @DISEASE$, depending on the transmission of hypercholesterolemia in the patient's family.	has_symptom
+3f5f806d1bd65ee55efb769fc31dde52fe05f4e8	Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant @PHENOTYPICFEATURE$ (ADH), autosomal recessive hypercholesterolemia (ARH) or @DISEASE$, depending on the transmission of hypercholesterolemia in the patient's family.	has_symptom
+6353f0975071b4d8f3a9371a0d98254f963510d6	Painless bilateral @PHENOTYPICFEATURE$ in a 33-year-old woman with severe @DISEASE$ hypotension.	has_symptom
+fb88ba18554f0c5614e116b7e8848811c85c1afc	In at least 399 (73.3%) of 544 episodes of AION, patients discovered @PHENOTYPICFEATURE$ upon first awakening or at first opportunity to use vision critically after sleeping, suggesting that nocturnal @DISEASE$ hypotension may play an important role.	has_symptom
+021536437a20425dc426233b94e711c5d0881417	Bilateral nonsimultaneous @PHENOTYPICFEATURE$ associated with idiopathic @DISEASE$ pulmonary hypertension.	has_symptom
+0448b6c0a45a74e2bc84fab055b4748758bc57b4	@PHENOTYPICFEATURE$ nonsimultaneous visual loss associated with idiopathic arterial @DISEASE$.	false
+125a3733e524c785c88d6ea277743ce9da719514	@PHENOTYPICFEATURE$ nonsimultaneous visual loss associated with idiopathic @DISEASE$ pulmonary hypertension.	false
+a548dcc9b845d087cd4f2693026d575b058d1c56	@PHENOTYPICFEATURE$ nonsimultaneous @DISEASE$ associated with idiopathic arterial pulmonary hypertension.	false
+e152df833f5bd1afbcead7d5a1b50e1792cd3474	Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that results in calcification of elastic fibres of the skin, retina, and arteries, leading to skin lesions, eventual central @PHENOTYPICFEATURE$, and potential @DISEASE$ insufficiency in most patients.	has_symptom
+bd12abcefbf6e4f5c0bfe80c32bac4d14472616d	The best predictors of stroke were permanent @PHENOTYPICFEATURE$ (odds ratio [OR], 5.42) and @DISEASE$ hypertension (OR, 5.06).	has_symptom
+6c86fd177e52a5a5b597a9df47cfb339e0ebc0de	A case is reported of tractional retinal detachment in a patient with retinitis pigmentosa and @PHENOTYPICFEATURE$, which was diagnosed as @DISEASE$.	has_symptom
+0220a3c6e3919fd80715b4e81986a6470e95a258	@DISEASE$ (USH3A) is an autosomal recessive disorder caused by mutations in clarin-1 (CLRN1) gene, leading to progressive retinal degeneration and @PHENOTYPICFEATURE$.	has_symptom
+97047b3866b9213370cf1526cefaca1f94764846	Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, and variable vestibular deficit; @DISEASE$ is the most common form.	has_symptom
+aa565d08fcbdb333b54612eadd02294dc247bf03	@DISEASE$ is an autosomal recessive disorder characterized by progressive @PHENOTYPICFEATURE$, vestibular dysfunction, and retinitis pigmentosa.	has_symptom
+b6e61f5c430fad3de7dd7b078b32616f6ffce17b	Usher syndrome type III is an autosomal recessive disorder characterized by progressive @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+4d5375f93c83ba75171a4f79cafa46c692065ac6	@DISEASE$ is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+e8185e4278e712b99fd6d9395d171f359172f289	Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9be9cd495c1723d9e6e66e328ecfbf6c45495ba5	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, blindness, @PHENOTYPICFEATURE$, and death.	has_symptom
+852db1be3ac51512d9993432bf7ceb7c4025667d	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, blindness, @PHENOTYPICFEATURE$, and death.	has_symptom
+d9d39b5a78cfa87cb306186b659bf44e7eb05ee7	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+10ef091911094b34a73fd23b64ea845073b88ae3	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, @DISEASE$, and death.	false
+e05fa9d8ab1361b2a2c0f134b5f948bf7c83188b	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+a42645a403623427cdf6c9d1c1e700a6052bb4b4	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @PHENOTYPICFEATURE$, blindness, deafness, and death.	false
+390d07465ef1dab3927e89ceed218a3084bca5af	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @PHENOTYPICFEATURE$, blindness, @DISEASE$, and death.	false
+a1ff9763f596f43c325bd92fa8745bf890a5f907	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+2b5b50b9b5652735ed43149b89ea50baf884d01c	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+3cd6b48004ee55a51c44447da59993d0d006efde	Metachromatic leukodystrophy (MLD) is an inherited @DISEASE$ that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @PHENOTYPICFEATURE$, blindness, deafness, and death.	false
+a0860c0b3e52b77230b9613e02f7a50e71d5f43d	Metachromatic leukodystrophy (MLD) is an inherited @DISEASE$ that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+12792b0873de5bb3ad7971d99cce06c93d58c3c3	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, @DISEASE$, and death.	false
+0013ceab416b187a4a3a50d1ee52acee043cbb4d	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @PHENOTYPICFEATURE$, blindness, deafness, and death.	false
+bac146b407a0cd26aacacf311ad1665e9bbdd333	Metachromatic leukodystrophy (MLD) is an inherited @DISEASE$ that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+434a8476135100c1c4073060f83fdaf916c5197e	MLD performance was correlated with interaural time discrimination, and it is suggested that one reason for poor @DISEASE$ performance with @PHENOTYPICFEATURE$ may be poor temporal coding of stimulus-fine structure.	has_symptom
+ff2041f89ba6cba13720f065e119a8af466f59b6	@DISEASE$ performance was correlated with interaural time discrimination, and it is suggested that one reason for poor MLD performance with @PHENOTYPICFEATURE$ may be poor temporal coding of stimulus-fine structure.	has_symptom
+533c224731ed0b49589e7c101a17ea4058540328	As an animal model, ASA(-/-) mice have previously been generated by disruption of the ASA gene and are known to develop lysosomal sulfatide storage similar to that in human @DISEASE$, and, moreover, to become @PHENOTYPICFEATURE$ because of degeneration of the primary neurons of the auditory pathway.	has_symptom
+f14651d4cc8b0cb4f346f1392af2f2234ef34df6	@DISEASE$ @PHENOTYPICFEATURE$ and sexual abdication among women: examining the moderating effect of child sexual abuse.	false
+aa55de225731f01de8cbc5133906c91ec189ca54	@DISEASE$ is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated @PHENOTYPICFEATURE$, nephronophthisis, liver fibrosis and polydactyly and is included in the newly emerging group of 'ciliopathies'.	has_symptom
+6685c9f9253f897b1cfbbb04bb1994dd4b7bca5a	@DISEASE$ is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and @PHENOTYPICFEATURE$ and is included in the newly emerging group of 'ciliopathies'.	false
+c6cb82fd5be46da15bb3a57a5c6e0aead8437dad	Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated @DISEASE$, nephronophthisis, liver fibrosis and @PHENOTYPICFEATURE$ and is included in the newly emerging group of 'ciliopathies'.	false
+fc8a624537a11c135f40641cf25db5b9089197d0	@DISEASE$ and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, @PHENOTYPICFEATURE$, and nephronophthisis (a cystic kidney disease).	has_symptom
+14944362c5f4352643aedc1e5f4907e4d35571bf	Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, retinal dystrophy, and @DISEASE$ (a cystic kidney disease).	false
+cecdaa65ecbee8ee51983c856cabae575e3b438a	Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, @DISEASE$, and nephronophthisis (a cystic kidney disease).	false
+883825c40319fd069c5f993df735bf7db9ac003d	@DISEASE$ and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, retinal dystrophy, and nephronophthisis (a cystic kidney disease).	false
+11ade010dc82be9391d2f0b7ff8aa55d7baee5a2	Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, retinal dystrophy, and nephronophthisis (a @DISEASE$).	false
+1b5ecf9b413901322241d1ee6b0c12f57b18a87d	@DISEASE$ and other syndromic craniofacial dysostoses are often characterized by @PHENOTYPICFEATURE$, with a negative canthal axis and counterrotated orbits.	has_symptom
+1bc5d14e1d9343835dd2bdb709cab69e8b0b071d	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, @PHENOTYPICFEATURE$, syndactyly, polydactyly, and cleft plate.	has_symptom
+b2c8e905cea662a7255099311a637cf1920a9309	A full-term female baby was diagnosed as having Apert syndrome with craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, and cleft plate.	false
+930c39a8c7723c4331bccf134734739f5ea49ed4	A full-term female baby was diagnosed as having Apert syndrome with craniosynostosis, @DISEASE$, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+a408e6d632a41a90b640e14d2dfbd94982f8b679	A full-term female baby was diagnosed as having Apert syndrome with @DISEASE$, hypertelorism, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+26770a1bacf472dee74070230b94784ec4f11f61	A full-term female baby was diagnosed as having Apert syndrome with @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, polydactyly, and cleft plate.	false
+c494f8aa7e3bce7287a800be7e735ba5eb0ed00c	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, hypertelorism, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+a7597bc75ce1d7a87d1e1e9d1ef260256d461240	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, hypertelorism, @PHENOTYPICFEATURE$, polydactyly, and cleft plate.	false
+12b3a137cca678b58b2c3500985c0ea104a6c16a	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	has_symptom
+fb574ea6d6858b0755a039752b2bf0f9471df052	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, @DISEASE$, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for Apert syndrome.	false
+b5e35785e12c5451802d390dcb55cfd3944ff7c1	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for @DISEASE$.	false
+6ad53dafe67baee4953740e23bcbbd6bdd6ff1f3	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @PHENOTYPICFEATURE$, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	false
+64a5580fd1670457a62b0b1027bdb4c4b6bb15cc	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @PHENOTYPICFEATURE$, suspicion of partial agenesis of the corpus callosum, @DISEASE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for Apert syndrome.	false
+6a868f644d792a15bfc095ad317801e360d19ad3	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+1fad57cfcf8e2479b82710d25a1853c05a3a6f89	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+ea64a6b7019240697752be8480efe1350807322b	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, @DISEASE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+f1064e439aa6e6d5bdebfb121c5f9d06fcf29f1d	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+5a91c3adace4fccecdacdff7454e0d48a645e3e2	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+8eb56da15643db7a3ff78119606722b6049c47c1	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+c01c480278aea02db97db66f0c45acf6259efc51	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, @DISEASE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+9d122368af5b24d38bbec8e6cee1358a7aa47055	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @DISEASE$, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+9ce499ba1e8d056ed8cca647f5edd6a60e0995be	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+c8137fd4b5883f15f0dd40085673af1c919ceab3	@DISEASE$ (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+6d2a419efdfe3794452ed140c808c0baf7ed0440	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face.	has_symptom
+219e0d50c0ce8f8ee7ca00ec0b67289525b8fb9c	Patients with @DISEASE$ show @PHENOTYPICFEATURE$ and midfacial hypoplasia, and their features are significantly improved through facial bipartition surgery.	has_symptom
+483a37159270adb74467dc91c717be6128310133	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe @PHENOTYPICFEATURE$ and profound psychomotor delay.	has_symptom
+ea6b5141e0ad2e42e3c7b3b8c36d5c1a42667dfa	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+446517aac9be26c6f026964bec950c520e1ae5a4	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+6d8ad6a2d39ec7617a46b03ffa022253cf8160d5	We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe @DISEASE$ and profound psychomotor delay.	false
+e51eed8c920c8aa9dcb002fa703d500ef75d75c5	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+91a56a30df4e66c206efe2a1e8f5505eaa322c8e	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+3a19cee4a1ceb4da48fbc22d4eacea0e5da286d6	We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe @DISEASE$ and profound psychomotor delay.	false
+ae0e30ff397e5f0f9fe73aad276d010dd52143e4	While @DISEASE$ is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and @PHENOTYPICFEATURE$, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	has_symptom
+880eb8f359d0ed4177b28b9b869fee8495ef17bd	While ACLS is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and hypertelorism, @DISEASE$ dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+4809e58dfdf6aea95473215894f7211e889264cb	While @DISEASE$ is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+3dc3e1bddb6fbe2e6ef2ab9a535be7a58618fc76	While ACLS is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and @DISEASE$, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+af1b3d7e095f74df045bedb2d0c39e3470033ecd	The @DISEASE$ is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, @PHENOTYPICFEATURE$ and hypoplastic midface with Class III malocclusion, besides systemic alterations.	has_symptom
+6c946c870214d0875edc2a62ecf21b24fec24bc2	The @DISEASE$ is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe @PHENOTYPICFEATURE$, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations.	false
+3ba61c23d7599701cfa5aab634bffe35af7f9db9	The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe @PHENOTYPICFEATURE$, exophthalmia, @DISEASE$ and hypoplastic midface with Class III malocclusion, besides systemic alterations.	false
+b6ff06ba58d0d79cbdcfd7903d424a7876cfaec5	We report a case of an 11-year-old girl presenting with @DISEASE$ characterized by midface concavity, protrusion of the eyeballs, and @PHENOTYPICFEATURE$.	has_symptom
+e284822f2891a47e544ee56d8ba456a7db38a0d3	We present two patients with @DISEASE$ caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb @PHENOTYPICFEATURE$ starting during puberty, and fetal hydrops resulting in intrauterine fetal death, respectively.	has_symptom
+9b099d10fd0974e3a889cc62552b2da223a11480	@DISEASE$ is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$.	has_symptom
+153002a696cdccd64c0b22d73399f4cfe7edc143	@DISEASE$ is a very rare disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive optic atrophy.	false
+97b8281d1a6d692dd06bd13eb2fc2ee68ef6e8d5	GAPO syndrome is a very rare disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive @DISEASE$.	false
+e329668ef18795233e6aef92b7cea22ea8af684a	GAPO syndrome is a very @DISEASE$ disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive optic atrophy.	false
+2d1e9ea4159fc44a5b6ff5af215636c162b75445	Growth retardation, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$ (@DISEASE$) with congenital glaucoma.	has_symptom
+a99f5d732559a32204360efc93719b0d5f3bbb44	@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with @DISEASE$.	false
+a27e63d288449e4faba08cbf371b4f42281ecf55	@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy (@DISEASE$) with congenital glaucoma.	false
+f949e3b0986d22a52f9711839b0d50d47ca328cc	@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and @DISEASE$ (GAPO syndrome) with congenital glaucoma.	false
+d9c372c0fcfac452b45d43102d96a31dc18714a7	@DISEASE$ is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$ (GAPO).	has_symptom
+3eabe1a760c2ad1820b2bfa9b0536fd18b7ab083	@DISEASE$ is a very rare genetic disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive optic atrophy (GAPO).	false
+7bb6decbcc9fe5acd6732525719991effdeb113a	GAPO syndrome is a very rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive optic atrophy (GAPO).	false
+3eb1c46c3f5cf3f43693fd957a91c917fa867611	GAPO syndrome is a very rare genetic disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive @DISEASE$ (GAPO).	false
+750072dbb716d996176b347723d8f0cb5cffc759	[Ophthalmological anomalies of the @DISEASE$ (growth retardation, alopecia, pseudo-anodontia, @PHENOTYPICFEATURE$).	has_symptom
+c6e4f52e13d1c6d3bd3864c0a5f5fcb6fefa962a	[Ophthalmological anomalies of the @DISEASE$ (@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, optic atrophy).	false
+dc8d87cfa1f6d40c325e1a518f984058c258f5e5	[Ophthalmological anomalies of the GAPO syndrome (@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, @DISEASE$).	false
+211e56ce2ff347154fb486f7eef379cc7df8a9d3	@DISEASE$ is a rare autosomal recessive disease and an acronym composed of growth retardation, alopecia, pseudoanodontia, @PHENOTYPICFEATURE$.	has_symptom
+25f657c81a9d37f65aafa39a5ae41be222277919	GAPO syndrome is a rare @DISEASE$ and an acronym composed of @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, optic atrophy.	false
+13a5b57f00552281179c759a41aa09a80d5325e2	@DISEASE$ is a rare autosomal recessive disease and an acronym composed of @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, optic atrophy.	false
+86dc4bc79d30db8174c5b2e2babfa33e0e5591ff	GAPO syndrome is a rare autosomal recessive disease and an acronym composed of @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, @DISEASE$.	false
+ee76cf7562f3171acc808c32963243c1c9bed627	[The @DISEASE$ (growth retardation, alopecia, pseudo-anodontia, @PHENOTYPICFEATURE$).	has_symptom
+c626774946fe8f04511536600c9eba0039584780	[The GAPO syndrome (@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, @DISEASE$).	false
+1decc84931b91c01d401f86b215b738b38190aaa	[The @DISEASE$ (@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, optic atrophy).	false
+ef74606dc7acda4831980a27de99bc22a1ae8229	Growth retardation, alopecia, pseudo-anodontia, and @PHENOTYPICFEATURE$--the @DISEASE$: report of a patient and review of the literature.	has_symptom
+c2961f3336060fc9c6e30ee95e8be3e863eac641	@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, and optic atrophy--the @DISEASE$: report of a patient and review of the literature.	false
+b4a4476690dc3220319022f1d329e7eb8dfd831e	@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, and @DISEASE$--the GAPO syndrome: report of a patient and review of the literature.	false
+fe194a3dc671b8d22bea88ddc917b6ecd19552e6	The main manifestations of @DISEASE$ are growth retardation (G), alopecia (A), pseudoanodontia (P), and @PHENOTYPICFEATURE$ (O).	has_symptom
+ad419d7537bd2ba96ee95360a31335db26340405	The main manifestations of GAPO syndrome are @PHENOTYPICFEATURE$ (G), alopecia (A), pseudoanodontia (P), and @DISEASE$ (O).	false
+9f7bad0cf51e0787b7b203beebfdab8d883e51a8	The main manifestations of @DISEASE$ are @PHENOTYPICFEATURE$ (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O).	false
+3dc97b6be2e31a39509ab3db858f28f896554fbd	@DISEASE$ is a rare autosomal recessive disorder whose main manifestations are: growth retardation, alopecia, pseudoanodontia and @PHENOTYPICFEATURE$.	has_symptom
+64728110f814acd2a2fa8bb16d308917ccc5ffef	@DISEASE$ is a rare autosomal recessive disorder whose main manifestations are: @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and optic atrophy.	false
+4db751d5fbb15fa39edf3b4f9c5076172f35eeb7	GAPO syndrome is a rare autosomal recessive disorder whose main manifestations are: @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and @DISEASE$.	false
+872e86ed16e8d305b64499508edaa83f439c7fa3	@DISEASE$ (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$.	has_symptom
+0c2a0a5a6b4d92f9c255f8e35f96f320d5488b08	@DISEASE$ (OMIM#230740) is the acronym for @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy.	false
+1536bfea5b7e9c6567723dfac061d75e3ea2b914	GAPO syndrome (OMIM#230740) is the acronym for @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and @DISEASE$.	false
+02fca0cdea107f6b0416f5e4bae8d69796aad78c	Defects in this splicing pathway have recently been linked to human disease, including a severe developmental disorder encompassing brain and @PHENOTYPICFEATURE$ known as @DISEASE$ or microcephalic osteodysplastic primordial dwarfism 1, and a hereditary intestinal polyposis condition, Peutz-Jeghers syndrome.	has_symptom
+18646d8e4e4c0be12649780c019b221c251f2acd	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including @PHENOTYPICFEATURE$, hypertelorism and micro-retrognatia.	has_symptom
+9fe20d5facbfe91c56322c880f8a3d06d911991a	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia @DISEASE$ characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+2016bd73d706785b1352a972c08dea9473e38080	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia @DISEASE$ characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+6e4e3ecb54ddd3e19bcf2f956a5555ea5bd06136	Al-Awadi/Raas-Rothschild (AARR) @DISEASE$ is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @PHENOTYPICFEATURE$ features including cleft palate, hypertelorism and micro-retrognatia.	false
+4d4d2ce0212bf6a7a2a56db0d162910393ae0e42	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+beb85973e33c7fca31cda6e43dfb92d2532ae3b6	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+4d8bcdaf888977f51fbdf7bd32f0ea1dd7def773	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including @DISEASE$, hypertelorism and micro-retrognatia.	false
+7dfd0ac5d538b5a56df66c3da35290ea8f74540d	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia @DISEASE$ characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @PHENOTYPICFEATURE$ features including cleft palate, hypertelorism and micro-retrognatia.	false
+87157888c9b479541982d11d62c4cbf7c5b429b6	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including @DISEASE$, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+c2d3df0da6ae6ec3d38b85dfdbbecd6c525f9cdd	Al-Awadi/Raas-Rothschild (AARR) @DISEASE$ is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+ef3f0a67c4351122dec93d3508a43e854047c101	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @PHENOTYPICFEATURE$ features including @DISEASE$, hypertelorism and micro-retrognatia.	false
+b7bb6a75373597c177760e7fe0b0b055e31581c7	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and @PHENOTYPICFEATURE$ features including cleft palate, hypertelorism and micro-retrognatia.	false
+29453deaf2b24ed88f216ad2699f6abc37c50de7	Al-Awadi/Raas-Rothschild (AARR) @DISEASE$ is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+fe8290a605bbfd76cde6b7904e6e2c4debee913a	Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb @DISEASE$ with absent fingers, absent fibulae, @PHENOTYPICFEATURE$, microtia, and abnormal pulmonary function.	has_symptom
+8fd18b7b943ae6e877bfafd8632885296ab735ae	A?41-year-old Caucasian female with @DISEASE$, presenting with @PHENOTYPICFEATURE$, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and generalised seizures at age 32?years.	has_symptom
+2d3ce7c86b7cf95275ea9c3e17e28de895bc8654	A?41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, @DISEASE$, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+5670d153d74487567d6480866017a5b8c83f94ba	A?41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, @DISEASE$-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+be2d7f38c2b9bd7841268df02e384a02c7da2d1f	A?41-year-old Caucasian female with @DISEASE$, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+a64b56453286f5696ec66366368c0001319851af	A?41-year-old Caucasian female with MELAS syndrome, presenting with @DISEASE$, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+dc9903e9acaf317ccfd60481c3ce5cd7e0d5346d	A?41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic @DISEASE$, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+ce6b770d770a8ef5b86f7442f353beaeafd9a33a	In addition to its neurologic manifestations, @DISEASE$ exhibits multisystem effects including cardiac conduction defects, diabetes mellitus, @PHENOTYPICFEATURE$, myopathy, and gastrointestinal disturbances.	has_symptom
+26f58da354a217468b93cdbed254bb2411648da8	@DISEASE$ is typically characterized by normal early development and childhood-onset recurrent neurologic deficits (stroke-like episodes), seizures, @PHENOTYPICFEATURE$, lactic acidosis, and ragged red fibers on muscle biopsy specimens.	has_symptom
+428fdfec79ee0804f6e026cfadbce584dc9b6274	@DISEASE$ is typically characterized by normal early development and childhood-onset recurrent neurologic deficits (stroke-like episodes), @PHENOTYPICFEATURE$, short stature, lactic acidosis, and ragged red fibers on muscle biopsy specimens.	false
+4943a55dc81f832fefce8b1121ff8cd25c612f5b	MELAS syndrome is typically characterized by normal early development and childhood-onset recurrent neurologic deficits (stroke-like episodes), @PHENOTYPICFEATURE$, @DISEASE$, lactic acidosis, and ragged red fibers on muscle biopsy specimens.	false
+af2e20d03901440c1a945e12be9b4ccbf0099e0e	@DISEASE$ is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and @PHENOTYPICFEATURE$.	has_symptom
+eb123c0768b005d4a47c39d652ae544c79d21597	@DISEASE$ is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, @PHENOTYPICFEATURE$, diabetes, and short stature.	false
+daa9c9992de3275197d40e62e16f7b642350a98a	MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, @DISEASE$, recurrent headaches, @PHENOTYPICFEATURE$, diabetes, and short stature.	false
+250202b74b7debee64e6f5840f97cfb13a89ddfe	MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, @PHENOTYPICFEATURE$, diabetes, and @DISEASE$.	false
+19f01b0b169ad32410ac04e86f04325ed0668a4a	MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, @PHENOTYPICFEATURE$, @DISEASE$, and short stature.	false
+a96c7f73e0ff3c9c92b5b7f06f731b29e1350c9e	Patients with WPW syndrome and neurologic abnormalities consistent with @DISEASE$, such as seizures, deafness, @PHENOTYPICFEATURE$, and stroke, should be screened for the A3243G mutation.	has_symptom
+09664f9e998d506046bae8873773f2b840e0aec7	Patients with @DISEASE$ syndrome and @PHENOTYPICFEATURE$ consistent with MELAS syndrome, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+ff8d53a55fad9ae0852d3b3bd69529a0b41f8395	Patients with WPW syndrome and neurologic abnormalities consistent with @DISEASE$, such as seizures, @PHENOTYPICFEATURE$, short stature, and stroke, should be screened for the A3243G mutation.	false
+ced9c697d79a1f414b34a9f601d6667eaad00305	Patients with WPW syndrome and @PHENOTYPICFEATURE$ consistent with @DISEASE$, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+02542903e5302c098a1f1210f78ecc63061980ea	Patients with @DISEASE$ syndrome and neurologic abnormalities consistent with MELAS syndrome, such as seizures, @PHENOTYPICFEATURE$, short stature, and stroke, should be screened for the A3243G mutation.	false
+76fa7a26c2b7d7c1bdc04c9e5efde262b7ff6a49	Patients with WPW @DISEASE$ and neurologic abnormalities consistent with MELAS syndrome, such as seizures, @PHENOTYPICFEATURE$, short stature, and stroke, should be screened for the A3243G mutation.	false
+2593f582d9d212331baf76ca084386fe548694f2	Patients with WPW @DISEASE$ and @PHENOTYPICFEATURE$ consistent with MELAS syndrome, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+b29c1aca0fb83d196a076f900a2e1cf4b6463ec2	Patients with WPW syndrome and @PHENOTYPICFEATURE$ consistent with MELAS syndrome, such as seizures, deafness, @DISEASE$, and stroke, should be screened for the A3243G mutation.	false
+597dc7ba8c8587e377a24227f93b3399e43026e7	Patients with WPW syndrome and neurologic abnormalities consistent with MELAS syndrome, such as @PHENOTYPICFEATURE$, deafness, @DISEASE$, and stroke, should be screened for the A3243G mutation.	false
+03914687f320e925b7ed6c0db72f13fa71a1589f	Patients with WPW @DISEASE$ and neurologic abnormalities consistent with MELAS syndrome, such as @PHENOTYPICFEATURE$, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+72dd80cbf0aa90b629dc28a0f6d363c8f9ad8b43	Patients with WPW syndrome and neurologic abnormalities consistent with MELAS syndrome, such as seizures, @PHENOTYPICFEATURE$, @DISEASE$, and stroke, should be screened for the A3243G mutation.	false
+f3b8fbc3851dc06587249d6d27e96ad2a342734b	Patients with WPW syndrome and neurologic abnormalities consistent with @DISEASE$, such as @PHENOTYPICFEATURE$, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+1e15dfdd052826114834700e9161ca0671d07fbb	Patients with @DISEASE$ syndrome and neurologic abnormalities consistent with MELAS syndrome, such as @PHENOTYPICFEATURE$, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+96bf0c2907c6a907303c4f13fb7c5654717da352	It is difficult to discriminate @DISEASE$ from Noonan syndrome, both have clinical manifestations such as severe @PHENOTYPICFEATURE$, psychomotor retardation, and congenital heart disease.	has_symptom
+ccf4f43e98ce07812af301b6234238f56defa1bb	A case of @DISEASE$ in association with developmental glaucoma requiring bilateral Baerveldt @PHENOTYPICFEATURE$ implants and subsequent tube repositioning.	has_symptom
+423d11167d0f5ad53af61576960792351d63ff17	We conclude that there is risk of association between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9457e7f7bd20948feec89fee1f0c65528628b4bc	To avoid possible @DISEASE$-associated complications of @PHENOTYPICFEATURE$, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up.	has_symptom
+536fbcd1a46efb5d89c4e61c9f76c0abffe8d502	@DISEASE$ is a congenital disorder that has been suggested to be associated with @PHENOTYPICFEATURE$.	has_symptom
+d4312521acdff91dd4f7737f360269394d135845	The diagnosis of Addison's disease is usually suspected in the presence of hyponatremia and @PHENOTYPICFEATURE$, or when @DISEASE$ develops.	has_symptom
+34c502c3c4fa7a556f8d7d05699ab7a3897ae2ea	On the third day of life, he manifested hypotension with high urine output, hyponatremia, @PHENOTYPICFEATURE$, hypernatriuria, high plasma adrenocorticotropic hormone level, and high plasma renin activity, suggesting @DISEASE$.	has_symptom
+3a6b2ea1ade7546e28d56097cd7b1a23665a98b6	Control animals developed severe hyponatremia and @PHENOTYPICFEATURE$, whereas in Tx only transient signs of @DISEASE$ were recorded.	has_symptom
+d5f6ae02b3a41e525e06ecdaa71d1fff490cc37c	After correction of severe hyponatremia, mild hypovolemia, hypernatriuria and @PHENOTYPICFEATURE$, the differential diagnosis of this hydroelectrolytic disorder revealed an @DISEASE$ resulting from a primary chronic adrenal insufficiency.	has_symptom
+bb382664b00bbfc94a999503a861d970efc39c7f	@DISEASE$ disease was characterized by severe alveolar @PHENOTYPICFEATURE$ and vascular hemorrhage in the lung in addition to fulminant necrotizing pneumonia caused by massive bacterial replication and inflammation.	has_symptom
+f16da6108aef90fc6378bcb6beaa76c28c87fa95	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, @DISEASE$ and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	has_symptom
+ccc86a4d4315779f4b3d2a98598743a03a5950ec	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and @DISEASE$ and is inherited in an autosomal recessive manner.	false
+7c6d9b8c2d5238de43a0001a056873c04aef8643	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, @DISEASE$ and hypogonadism and is inherited in an autosomal recessive manner.	false
+09cd1f05574715009ccb6f3f9833023bf3f957a7	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+0d615894947a89a3d4204289cfdc9c83e79be910	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+d1e59c137d99bf3a0d05cc8f97cebf4e79855dff	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and @DISEASE$ and is inherited in an autosomal recessive manner.	false
+45b3795227257e48e0acfec398898e120b2ef03a	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+e569a87e51ef12ac87981e57be74ea6eaf8cd1fb	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, @DISEASE$ and hypogonadism and is inherited in an autosomal recessive manner.	false
+374e9edb71638fe9c1e087d98c6969ba3d628358	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+c34db4a393bd6d43b47917272c2ff45b0e2ffcb0	We present a case of intramedullary spinal @DISEASE$ in a 19-year-old woman who presented with a long history of @PHENOTYPICFEATURE$ of the face and neck areas and intermittent pain of the hands.	has_symptom
+e1393534d2f855bd205ae3591b432507a9d3b2ab	@DISEASE$: a cause of @PHENOTYPICFEATURE$ masses in children.	has_symptom
+d87597dffe499b51e81909aa123726de8f13e6b5	All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of @DISEASE$ such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or @PHENOTYPICFEATURE$ with or without growth hormone deficiency.	has_symptom
+36551691666cc456a305afebe2ab932e990605a9	All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of @DISEASE$ such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, @PHENOTYPICFEATURE$ or short stature with or without growth hormone deficiency.	false
+8be050e71266015de98853f6b897ffd6e56fd4a5	All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, @PHENOTYPICFEATURE$ or @DISEASE$ with or without growth hormone deficiency.	false
+14cb2a2b6fbde76083ed33fa9ff00e4e46b960c8	We present a patient with features of @DISEASE$ (UMS) consisting of bilateral ulnar defects, inverted nipples, @PHENOTYPICFEATURE$ with associated growth hormone deficiency, and cryptorchidism.	has_symptom
+ce419f36c68905af1323eb0282f619870fefa5e1	A 45-year-old man who presented with anemia, jaundice and @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$.	has_symptom
+7b5eddbb27aae9ac00d0ff31419dbb1d6bee3be6	A 45-year-old man who presented with @PHENOTYPICFEATURE$, jaundice and abdominal pain was diagnosed with @DISEASE$.	false
+3e01214c20302e7296a7e87a9fe9770bcfbf188b	A 45-year-old man who presented with @PHENOTYPICFEATURE$, jaundice and @DISEASE$ was diagnosed with hereditary spherocytosis.	false
+ca05a9a15076540dc8f3f84eff2bd201dde446d4	Furthermore, since satisfactory hearing and speech perception results were achieved we recognise that cochlear implant should be considered the best option for hearing restoration in subjects with @DISEASE$ and profound @PHENOTYPICFEATURE$.	has_symptom
+03e72de8dfe05839d96b3eb3c487035642dbf909	Chudley-McCullough syndrome (@DISEASE$), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound @PHENOTYPICFEATURE$ and specific brain abnormalities.	has_symptom
+d53d2c3b48a2fa037be0bb558c82efa0b47cec7e	The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the @PHENOTYPICFEATURE$ and characteristic brain malformations of @DISEASE$ are due to defects in asymmetric cell divisions during development.	has_symptom
+f4e958bdb7f36081a8d4f1d0bfb624b7a2d3318c	Chudley-McCullough syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement.	has_symptom
+6837cb9b6bc459156e9462c9f48b5ab73efe03be	@DISEASE$ (CMS) is a rare autosomal recessive disorder characterized by sensorineural deafness, @PHENOTYPICFEATURE$, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement.	false
+0de7f4e3fce10a0b4bb1bd9c9b34b19dc2b7a91f	Chudley-McCullough syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by sensorineural deafness, @PHENOTYPICFEATURE$, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement.	false
+7a1c020105e93ede9e2efe9cbde99785cf85d66e	Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement.	false
+337444c0cfa79b8730a77adf20ae0dad6480a283	Autosomal-recessive inheritance, severe to profound @PHENOTYPICFEATURE$, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (@DISEASE$).	has_symptom
+ac33a5816307c31383f781f9155c465a2da412bb	This report documents a 28-year-old man with @DISEASE$ who presented with a @PHENOTYPICFEATURE$ and a dural-based mass that was thought to represent a meningioma.	has_symptom
+59bb1e723e022a10557d61b3095d19ed816e18bb	We report multiple meningeal nodules in a patient presenting with @PHENOTYPICFEATURE$ whose pathological findings at surgery confirmed the diagnosis of @DISEASE$.	has_symptom
+e5653e42f5ff8cc0b12ff1afe97cb856e12bf563	@DISEASE$ is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, @PHENOTYPICFEATURE$, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.	has_symptom
+42fd04ad74068453f2192fd3a17a46128c6bb199	Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, @PHENOTYPICFEATURE$, @DISEASE$, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.	false
+d058fd16acd730e0db20b6b991f0f81fdcefa6ec	@DISEASE$ is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, @PHENOTYPICFEATURE$, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.	false
+40b2083b6f78e4ce30ccb6fb3213ced1979fc7cf	@DISEASE$ is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and @PHENOTYPICFEATURE$.	false
+b9aa0a2b0d362d613298d7e385dcbf71d930699e	Trisomy 18 is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, @DISEASE$, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and @PHENOTYPICFEATURE$.	false
+eaf2d1537a1482c6a4ad37b2c166ff6b6ed6cf67	We present a series of a distinct tumorous entity @DISEASE$ renal angiomyoadenomatous @PHENOTYPICFEATURE$ (RAT).	has_symptom
+4a07833a3a3d4c49bb541185e64ec44dbb2b0edd	Patients with @DISEASE$ less than 2.5 mm Breslow depth have a 5 year survival of 88% and are twice as likely to survive compared with those with @PHENOTYPICFEATURE$ greater or equal to 2.5 mm in thickness (P < 0. 05).	has_symptom
+edacfd7402929e564b2e5f71d4f082d5fcb45ddd	We then developed a risk scoring system based on NFE2L2 gene expression profiling and designated 50 @PHENOTYPICFEATURE$-associated genes as the NFE2L2-associated molecular signature (@DISEASE$).	has_symptom
+88bf1116e9d562979124ee4bf94322106108f6c9	A small subset of cells within a malignant neoplasm, @DISEASE$ cancer stem cells (CSCs) or @PHENOTYPICFEATURE$ initiating cells, are thought to be capable of initiating the neoplasm itself, and of driving its growth and recurrence after treatment.	has_symptom
+603b001b33ad12f9341821985bbcd78e1b57b553	Novel surgical techniques allow for a more radical resection of @DISEASE$ @PHENOTYPICFEATURE$, as well as lower morbidity and invasiveness of the surgical procedures, which, in the long term, leads to lower complication rates.	has_symptom
+e28a762c34fc2ff00351dd3447f178356b43f468	Although the variations between patients were large, no significant enhancement in mean @PHENOTYPICFEATURE$ and normal brain perfusion could be demonstrated with @DISEASE$ or carbogen compared to the control patients.	has_symptom
+d4a74fd2101b2cfa557c8356d990f055e184e92d	We have shown that WBH 42 degrees C alone, or in combination with @DISEASE$, has no effect upon @PHENOTYPICFEATURE$ growth if a larger number of RG2 cells (5,000) are inoculated.	has_symptom
+6e1065ed1c17010225f15a40261163dbe4811f4b	In 33 patients (20 women, 13 men, median age 65.0 years) with @DISEASE$ (median @PHENOTYPICFEATURE$ thickness 3.5 mm), we retrospectively examined a detailed history of trauma to the affected extremity at first presentation.	has_symptom
+a157ae2098d28c655d4a9969d814e6c6900d3e1b	This @PHENOTYPICFEATURE$ exhibits numerous comparison points with a human LC disorder @DISEASE$ Hashimoto-Pritzker disease, and thus may constitute an interesting model to explore causes of such a proliferation and mechanisms of tumor rejection.	has_symptom
+38bf77228376577811160ae927cbb90747710d5a	This tumor exhibits numerous comparison points with a human LC disorder @DISEASE$ Hashimoto-Pritzker disease, and thus may constitute an interesting model to explore causes of such a proliferation and mechanisms of @PHENOTYPICFEATURE$ rejection.	has_symptom
+9ae0c7200f53f6f6900c4b1a3e7e02ceecddc56b	Uterine smooth muscle-related @PHENOTYPICFEATURE$ comprise common well-differentiated benign lesions called leiomyomas (ULM), and rare, highly aggressive and pleomorphic tumors @DISEASE$ leiomyosarcomas (ULMS).	has_symptom
+f58c9ef768d07066b794895a2e4d07c4f91e59ec	Uterine smooth muscle-related neoplasia comprise common well-differentiated benign lesions called leiomyomas (ULM), and rare, highly aggressive and pleomorphic @PHENOTYPICFEATURE$ @DISEASE$ leiomyosarcomas (ULMS).	has_symptom
+db1e1e884cdb1ee41f41c8b22e3124fe3632e439	@DISEASE$ (MIM 163950) is characterized by short stature, @PHENOTYPICFEATURE$ and cardiac defects.	has_symptom
+df6f6bdc4b813d8aa3fb54186d5eea7faa7a97d1	Noonan syndrome (MIM 163950) is characterized by @PHENOTYPICFEATURE$, @DISEASE$ and cardiac defects.	false
+3db5d0f1571aaa055d80c3477580cdb8bea8874b	@DISEASE$ (MIM 163950) is characterized by @PHENOTYPICFEATURE$, facial dysmorphism and cardiac defects.	false
+09e6d9d2128018c653266d98ee781fec3c1544f0	@DISEASE$ (NS) is a developmental disorder characterized by @PHENOTYPICFEATURE$, short stature, cardiac defects, and skeletal malformations.	has_symptom
+47835f7b879e1b2badf8365b6a6b1bd1f6623a03	Noonan syndrome (NS) is a developmental disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cardiac defects, and skeletal malformations.	false
+8229c9cfd319fa45a84a8f44de388d804bccfe8f	@DISEASE$ (NS) is a developmental disorder characterized by facial dysmorphia, @PHENOTYPICFEATURE$, cardiac defects, and skeletal malformations.	false
+9f8282e1f80cacef7aa34f85da3d58230d4d83e6	@DISEASE$ is a clinical entity associating short stature, @PHENOTYPICFEATURE$ and congenital cardiomyopathy.	has_symptom
+04841c4af31746088ae66046cac462f98abd5261	@DISEASE$ is a clinical entity associating @PHENOTYPICFEATURE$, facial dysmorphy and congenital cardiomyopathy.	false
+a822a226cc44e65969ab5ff99047452320de6f61	Noonan's syndrome is a clinical entity associating @PHENOTYPICFEATURE$, @DISEASE$ and congenital cardiomyopathy.	false
+df70dd34843b26a646822cb6a4b27a135560f7d0	Noonan's syndrome is a clinical entity associating @PHENOTYPICFEATURE$, facial dysmorphy and @DISEASE$.	false
+9601f13ccd355d12aa1e317970ae5663a307de27	@DISEASE$ (NS) is a developmental disorder characterized by short stature, @PHENOTYPICFEATURE$ and congenital heart defects.	has_symptom
+1670dcfd3e1452ccf0a38d4fdedeb27ae3ebf279	Noonan syndrome (NS) is a developmental disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart defects.	false
+3f3b9c5071d24451dc629ffe942c0c51735e5d03	@DISEASE$ (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and @PHENOTYPICFEATURE$.	false
+1343c22a9e59e7e5cc782c4ba023b16046d6e9ce	@DISEASE$ (NS) is a developmental disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and congenital heart defects.	false
+1b59625c8b4831be34d9aded6ed954882b703b65	Noonan syndrome (NS) is a developmental disorder characterized by short stature, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e934f1e797c0ec8a17d3de1fc0b21c38d5b63cec	@DISEASE$ is a developmental disorder characterized by @PHENOTYPICFEATURE$, short stature, cardiac defects and skeletal malformations.	has_symptom
+81bd85801c279eda3674ed7f9c24c79ad734cd0f	Noonan syndrome is a developmental disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cardiac defects and skeletal malformations.	false
+407a5c83bdf0e1d7897ebcddec1243384b508d96	@DISEASE$ is a developmental disorder characterized by facial dysmorphia, @PHENOTYPICFEATURE$, cardiac defects and skeletal malformations.	false
+1ac0938de2e86c3efdfca65c39b2d161fa995342	The clinical hallmarks of @DISEASE$ (NS) are @PHENOTYPICFEATURE$, short stature and cardiac defects.	has_symptom
+8138c1bf899586b79797b252625f75916f850053	The clinical hallmarks of Noonan syndrome (NS) are @DISEASE$, @PHENOTYPICFEATURE$ and cardiac defects.	false
+b805dfc23329b6cd0c169c0edc8b3705e8acf954	The clinical hallmarks of @DISEASE$ (NS) are facial dysmorphism, @PHENOTYPICFEATURE$ and cardiac defects.	false
+33008ea6e1fbb2d096c767c4e6aae0d481e1de62	The common phenotypic features of @DISEASE$ include @PHENOTYPICFEATURE$, short stature, congenital heart defects and genitourinary abnormalities.	has_symptom
+4732b89145383e57e4745b73cb26cd87eae82082	The common phenotypic features of Noonan syndrome include @DISEASE$, short stature, @PHENOTYPICFEATURE$ and genitourinary abnormalities.	false
+b8c60bb06b3769cc2a0267b3f8877015d4cb6a5b	The common phenotypic features of Noonan syndrome include @DISEASE$, @PHENOTYPICFEATURE$, congenital heart defects and genitourinary abnormalities.	false
+88ac76ecb20360acddba86b497f6ef7cdd29e12f	The common phenotypic features of @DISEASE$ include facial dysmorphisms, short stature, @PHENOTYPICFEATURE$ and genitourinary abnormalities.	false
+9e954734e2509e53e78c1ab790ebc917d047cc0b	The common phenotypic features of @DISEASE$ include facial dysmorphisms, @PHENOTYPICFEATURE$, congenital heart defects and genitourinary abnormalities.	false
+496e94bf3a9f41783d03d499d9dddcc850658b7a	@DISEASE$ is characterized by short stature, @PHENOTYPICFEATURE$ and a wide spectrum of congenital heart defects.	has_symptom
+095266847b35167c371a9975d21f494212700626	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, facial dysmorphia and a wide spectrum of congenital heart defects.	false
+9ceec2faecf0b6d34780ceda1298d665a894c45f	@DISEASE$ is characterized by short stature, facial dysmorphia and a wide spectrum of @PHENOTYPICFEATURE$.	false
+305eed6c0e9533034ad9aa0fea13a4beb332f529	Noonan syndrome is characterized by short stature, @DISEASE$ and a wide spectrum of @PHENOTYPICFEATURE$.	false
+3258e407aff5611eb3789ad1f851172acab33307	Noonan syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$ and a wide spectrum of congenital heart defects.	false
+40a0a57aa37bcb1ec18bedf397e6c08d64da789a	Inconspicuous clinical features as @PHENOTYPICFEATURE$, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of @DISEASE$.	has_symptom
+b78720bcea1bfec296cf70b8085968acd8b225f9	@DISEASE$ (NS) is characterized by short stature, @PHENOTYPICFEATURE$ and congenital heart defects.	has_symptom
+9f7c0b0cf939799394b3bf03b53ed273c0a39f6a	@DISEASE$ (NS) is characterized by short stature, facial dysmorphisms and @PHENOTYPICFEATURE$.	false
+2391c12db9c5d4523cb1537574768b81d402095f	@DISEASE$ (NS) is characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and congenital heart defects.	false
+9ba08fcdfa47cf23b6096424663586c31b572e35	Noonan syndrome (NS) is characterized by short stature, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f6a0c6de6dcfa71207f2c7df3773a48ca486290b	Noonan syndrome (NS) is characterized by @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart defects.	false
+6ccc575864a72fc41ec53572b676cd58e8685f2d	@PHENOTYPICFEATURE$ induced by CMT is clinically distinct among the genetically heterogeneous group of @DISEASE$ disorders.	has_symptom
+c0fe389e98587973dc7b73528671389367b4fdfc	Cochlear implantation in a patient with @PHENOTYPICFEATURE$ induced by @DISEASE$ (hereditary motor and sensory neuropathies).	has_symptom
+1d8400ee1af5186d08d4ae2f8c71ad8e237b3c21	Cochlear implantation in a patient with @PHENOTYPICFEATURE$ induced by Charcot-Marie-Tooth disease (@DISEASE$).	has_symptom
+6cd5e5383d3ad153f0fdad439ae4014534e4c8b5	@DISEASE$ 4D (CMT4D) is characterized by severe peripheral neuropathy and @PHENOTYPICFEATURE$.	has_symptom
+0978ddd2cdfcb1f1cd58c95bc5088ca405715351	@DISEASE$ 4D (CMT4D) is characterized by severe @PHENOTYPICFEATURE$ and deafness.	false
+1a1f010cc47d5e0bcc3b8d99464a81b04bd39f13	Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a4fd7f0d5255c87dae3690848979b1d3c31e324b	The familial association of neurofibromatosis, @DISEASE$, @PHENOTYPICFEATURE$, partial albinism, and Axenfeld's defect.	has_symptom
+0e9f68d628e08c95c45a7167bccfbdf36d01ddea	A case of @DISEASE$ (HMSN) type 1 (Charcot-Marie-Tooth disease (CMT)) is reported with vocal cords palsy, @PHENOTYPICFEATURE$, diaphragmatic weakness, and cerebellopontine atrophy.	has_symptom
+f005e51b6f32334d477e0cd9b7489ded0194a9db	A case of hereditary motor and sensory neuropathy (HMSN) type 1 (@DISEASE$ (CMT)) is reported with vocal cords palsy, @PHENOTYPICFEATURE$, diaphragmatic weakness, and cerebellopontine atrophy.	has_symptom
+4a790392bcc69c8a1fb71df023fe62bcec7b914f	@DISEASE$ (CMT) with @PHENOTYPICFEATURE$ is clinically distinct among the genetically heterogeneous group of CMT disorders.	has_symptom
+9aaab31a39685a1305355016f540a8aea51137fa	Charcot-Marie-Tooth disease (CMT) with @PHENOTYPICFEATURE$ is clinically distinct among the genetically heterogeneous group of @DISEASE$ disorders.	has_symptom
+77ddd455f719a118a369f349bc61549de4fd8cbc	The present molecular study involves a family with progressive features of @DISEASE$ and @PHENOTYPICFEATURE$, originally reported by Kousseff et al.	has_symptom
+b2e2a3708937e793aae204bcdfd6bf5f492cd0a9	Cochlear implantation in a patient with sensori-neural @PHENOTYPICFEATURE$ secondary to @DISEASE$.	has_symptom
+39923b76ec7bcb162b1e0587fa18f97cc1e0fddc	Hereditary motor-sensory neuropathy (@DISEASE$) with nerve @PHENOTYPICFEATURE$: a new variant.	has_symptom
+45a2e8c9bd7bc7c3d1de6074541aeb6e7ea2e20b	@DISEASE$--Lom, a novel demyelinating neuropathy associated with @PHENOTYPICFEATURE$ in gypsies.	has_symptom
+8655c190178ecb5928113e601fcc50693f00b355	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	has_symptom
+821b5d18e82bc7eeaeea820c60b1afa5358c2190	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and @PHENOTYPICFEATURE$.	false
+c167264ffeb1cae44f43cd88ab5346483ff65545	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+ec6c623ae395e770ba5fca515426fb673c669910	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and @PHENOTYPICFEATURE$.	false
+d88919e406dae40b83ad465dec8f3afa99f0da3e	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@PHENOTYPICFEATURE$, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+de20ebd71b3472eaa48ee1c402aa5d7249e6a8cd	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+5764cdc9efaf4aec9eadeffb1f49b4ceeee56f9f	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @DISEASE$, cono-@PHENOTYPICFEATURE$, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+bbd740521920ee10199967683edbc1c48b7bde2b	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of @DISEASE$, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+e89a1c369856ee66574424c9f6a38d7ffc47266e	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@PHENOTYPICFEATURE$, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+9bae5346b06f55f4a60a2efc12c11f8627d7fb59	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @DISEASE$, cono-brachydactyly, and craniosynostosis along with recognizable facial features and @PHENOTYPICFEATURE$.	false
+4dcb66b7da80383f2c05811e2d7af69d32cbac13	We report a case of @DISEASE$ in a male infant who had lupus hepatitis with jaundice in addition to cutaneous lupus, @PHENOTYPICFEATURE$, and thrombocytopenia.	has_symptom
+a268973c8e01d90b10ad04971eac1bc8c6c3b01b	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+9f68b1de313539dfb8bc18181777d2ee3ed439c6	Individuals with @DISEASE$ present with hepatomegaly, @PHENOTYPICFEATURE$, hyperlipidemia, and growth retardation.	false
+63076b624d5fc560696a4ea1228097d17e1f63be	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, hyperlipidemia, and @PHENOTYPICFEATURE$.	false
+89a299ccab4515c4b6b2ec5043b6f47d1111f19e	Individuals with glycogen storage disease type III present with hepatomegaly, @PHENOTYPICFEATURE$, @DISEASE$, and growth retardation.	false
+0ad80fa6543e9f4e8210a4b4bef6f178770f9691	Individuals with glycogen storage disease type III present with hepatomegaly, hypoglycemia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f6e8fbe80b154708dbe93d55b40e32d6cc2b7933	@DISEASE$ (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and @PHENOTYPICFEATURE$.	has_symptom
+a4ca725e1c528d1d4d15eb227a66dd21021b595b	Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+54542bae7970c6a60e4e388cf2897b0c2a3631d8	Glycogen storage disease type III (@DISEASE$ III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+e450c0cea151c2f5e9a9199940fe8b9b0891af3b	@DISEASE$ (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+68e11f752ad157eed369ed93e2b3e2d2c73f36f8	Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, @DISEASE$, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+a47e637456531bb433767e5543a025a055836cb9	Glycogen storage disease type III (GSD III) is an @DISEASE$ caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+217483d3fe6543ff006f84c5608b3c21950a2e0d	[Two cases of @DISEASE$ with bilateral wide-spread @PHENOTYPICFEATURE$].	has_symptom
+a0b1dd8a0cecd10b8d5ea01e65f8efb5d7ab970b	We further characterize a syndrome of autosomal recessive @PHENOTYPICFEATURE$ in the Hutterite population, referred to as @DISEASE$ (DES).	has_symptom
+db935561ed4cb848ecb8686422f01dfd9d0e4795	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and mental retardation associated with @PHENOTYPICFEATURE$ in the Hutterite population known as @DISEASE$ (DES).	has_symptom
+24dbd87404c03f3d9999b345d530998c0ec8f075	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and @PHENOTYPICFEATURE$ associated with cerebellar hypoplasia in the Hutterite population known as @DISEASE$ (DES).	false
+3d410262740e0f019b4aa47a32f81ea119ce9d72	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @PHENOTYPICFEATURE$ and mental retardation associated with @DISEASE$ in the Hutterite population known as dysequilibrium syndrome (DES).	false
+557a257a151f37d9f07970f9f19f5b8fd12edf83	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and @PHENOTYPICFEATURE$ associated with @DISEASE$ in the Hutterite population known as dysequilibrium syndrome (DES).	false
+1875efd7cc09ef289887d40328e6caf70a39c43f	A homozygous deletion encompassing VLDLR has previously been found to cause a @DISEASE$ of cerebellar ataxia and @PHENOTYPICFEATURE$ associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).	false
+158e06d07a3da5c48876c21a2f1f06c9c062b809	A homozygous deletion encompassing VLDLR has previously been found to cause a @DISEASE$ of @PHENOTYPICFEATURE$ and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).	false
+b151dfc37d46c5957fabaac0a6442c9cf0eb2c18	A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of @PHENOTYPICFEATURE$ and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as @DISEASE$ (DES).	false
+24d3d063067806d52867b431e511ad270787511f	@DISEASE$ (AN) in adults is an acquired disorder characterized by mild-to-moderate pure-tone hearing loss, @PHENOTYPICFEATURE$, and absence of the auditory brainstem response (ABR) all in the presence of normal cochlear outer hair cell function as indicated by normal distortion product otoacoustic emissions (DPOAEs) and evoked summating potentials (SPs) by electrocochleography (ECoG).	has_symptom
+1e9dad9421092769000368899c6a8bc0c484067e	The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause @DISEASE$, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical triad of @PHENOTYPICFEATURE$, supranuclear gaze palsy, and dementia.	has_symptom
+75932ecddc5ab86aebff850ef402922b3340dcc2	Finnish-type @DISEASE$ is an autosomal recessive condition that presents in the first 3 months of life with heavy proteinuria, hypoalbuminemia with secondary @PHENOTYPICFEATURE$, and hyperlipidemia.	has_symptom
+ab498d50f3a8936eb83fd3f9463fc24a8803f7ce	@DISEASE$ (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and @PHENOTYPICFEATURE$, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	has_symptom
+2c57572cc93d88ac36659255bcb6febbd2bf2c9b	Congenital nephrotic syndrome (CNS), which is defined as heavy @DISEASE$, hypoalbuminemia, @PHENOTYPICFEATURE$ and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	false
+3f293b8e05f451e3dfd254bb29b38e0208dce001	@DISEASE$ (CNS), which is defined as heavy proteinuria, hypoalbuminemia, @PHENOTYPICFEATURE$ and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	false
+b6af79343caf0ea99e851045aa32a6c104eea5ab	Congenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, @PHENOTYPICFEATURE$ and @DISEASE$, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys.	false
+4397c8158a77c53fad06d005f092ba14bec4e888	@DISEASE$ (CNS) is a rare disorder characterized by massive proteinuria and marked @PHENOTYPICFEATURE$ manifesting in utero or during the first 3?months of life.	has_symptom
+2d44081b179b584652d41d39b0acad648330c5dd	@DISEASE$ (CNS) refers to a disease presenting with massive proteinuria in association with hypoalbuminemia, hyperlipidemia, and @PHENOTYPICFEATURE$ at birth or within the first three months of life.	has_symptom
+b35dec0b961d29cbd07952de3d107dd790aa7ded	@DISEASE$ (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and @PHENOTYPICFEATURE$ presenting in the first 0-3 months of life, may be caused by congenital syphilis, toxoplasmosis, or congenital viral infections (such as cytomegalovirus).	has_symptom
+d959663ad5eada14bbd21bb814242fdf14ecc3e6	@DISEASE$ (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and @PHENOTYPICFEATURE$ starting soon after birth.	has_symptom
+939178c52d589614bac729be68d58a4dc3cc5a42	@DISEASE$ is difficult to manage, particularly the Finnish type (CNF), with patients experiencing severe @PHENOTYPICFEATURE$, sepsis and thrombosis before kidney transplantation.	has_symptom
+a3e3ee8083fb22c665ee4fc3d796039b2aeb3347	@DISEASE$ (CNS) is characterised by increased proteinuria, hypoproteinemia, and @PHENOTYPICFEATURE$ beginning in the first 3?months of life.	has_symptom
+b8087dd6167bc96fbcf7aa19944a44a9c22b85ff	@DISEASE$: cerebral haemodynamics during @PHENOTYPICFEATURE$ activity.	has_symptom
+b217eb62c1d5bbaaeb8e61818587e19626b272a6	Overall, children with SWS and seizures were similar to the epilepsy group, whereas children with @DISEASE$ and no @PHENOTYPICFEATURE$ were similar to the controls.	has_symptom
+28807a28ce3214d05f64fb097ec5b208f5e9abfb	Overall, children with @DISEASE$ and @PHENOTYPICFEATURE$ were similar to the epilepsy group, whereas children with SWS and no seizures were similar to the controls.	has_symptom
+e361082379878286159ba57ee4f566982a4a6673	Overall, children with SWS and @PHENOTYPICFEATURE$ were similar to the epilepsy group, whereas children with @DISEASE$ and no seizures were similar to the controls.	has_symptom
+d67a352d64e5f352d438e9f238a31e8a494a5705	Overall, children with @DISEASE$ and seizures were similar to the epilepsy group, whereas children with SWS and no @PHENOTYPICFEATURE$ were similar to the controls.	has_symptom
+5fab98115b174a0a8455c6e4e989b11e59999798	Infants with @DISEASE$ (SWS) are considered for surgery if they develop @PHENOTYPICFEATURE$ and the seizures prove medically refractory.	has_symptom
+7c4bea692286b43dbceb88890986b96267d36f83	Infants with Sturge-Weber syndrome (@DISEASE$) are considered for surgery if they develop seizures and the @PHENOTYPICFEATURE$ prove medically refractory.	has_symptom
+6cc0be5e585cd519d076371e311eea69ca333471	Infants with Sturge-Weber syndrome (@DISEASE$) are considered for surgery if they develop @PHENOTYPICFEATURE$ and the seizures prove medically refractory.	has_symptom
+3febd5a78a679322a191a1f2bbe7a11795fa698d	Infants with @DISEASE$ (SWS) are considered for surgery if they develop seizures and the @PHENOTYPICFEATURE$ prove medically refractory.	has_symptom
+56b770ca6f823ca7d2d80009c673bbcfb38b22c8	Gelastic epilepsy: @DISEASE$ with @PHENOTYPICFEATURE$ facilitation.	has_symptom
+cf9720ba376df62b587f5e96383735bc77f1d26b	Some patients with @DISEASE$ (SWS) need epilepsy surgery for adequate @PHENOTYPICFEATURE$ control and prevention of psychomotor deterioration.	has_symptom
+f375183660827961bb255b7c7f381f874e847cde	Some patients with Sturge-Weber syndrome (@DISEASE$) need epilepsy surgery for adequate @PHENOTYPICFEATURE$ control and prevention of psychomotor deterioration.	has_symptom
+3cd26222b84036a0389802afeca244a1c161dc5e	[Case of @DISEASE$ with depressive @PHENOTYPICFEATURE$ and hemisomatagnosia].	has_symptom
+c6f1366b8c8ca47cfbb90cc67956e2020701f504	@DISEASE$ (SWS) is often accompanied by @PHENOTYPICFEATURE$, stroke-like episodes, hemiparesis, and visual field deficits.	has_symptom
+aa2799e59c0aa9803077bf9319e94ae929f97fec	Sturge-Weber syndrome (@DISEASE$) is often accompanied by @PHENOTYPICFEATURE$, stroke-like episodes, hemiparesis, and visual field deficits.	has_symptom
+b57231e00cd0fd2bce605ddf5b92569e9d6c99c5	@PHENOTYPICFEATURE$ in @DISEASE$ are usually focal.	has_symptom
+243003e24ec6d1b5495ea21ae268d555ab89a8ac	Most children with Sturge-Weber syndrome (@DISEASE$) develop @PHENOTYPICFEATURE$ that may contribute to neurocognitive status.	has_symptom
+a14f8bb276b522a41374266056891fe9c8f63698	Most children with @DISEASE$ (SWS) develop @PHENOTYPICFEATURE$ that may contribute to neurocognitive status.	has_symptom
+a229ed2157aaa5af89bdc8b2cd71e2b6f0f9f9ef	Focal inhibitory @PHENOTYPICFEATURE$ with prolonged deficit in adult @DISEASE$.	has_symptom
+9a6457b0a92f89aa5c0dfd0e6a2d58fd4cfd16be	We report two novel ATP13A2 pathogenic mutations, further expanding the phenotype of @DISEASE$ with the unusual features of @PHENOTYPICFEATURE$ and polyneuropathy.	has_symptom
+ff1dfc0af62698a167d9e3079bdad8a3e0be679e	Clinical and ultrastructural findings in an @PHENOTYPICFEATURE$ variant of @DISEASE$.	has_symptom
+5161f40e62eaaa339f968c4edbc8678b15db3485	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, @PHENOTYPICFEATURE$, and hydrocephalus syndrome, @DISEASE$) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	has_symptom
+54fe3613ab84941e7659a8529138f7f1a817fe3c	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (@PHENOTYPICFEATURE$, retardation, adducted thumbs, @DISEASE$, and hydrocephalus syndrome, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+bace5588849845d269a00af52ef4a9cc160d967e	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, spasticity, and @PHENOTYPICFEATURE$ @DISEASE$, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+bf91d5f85edcd829ef3297a617499c97c8e3d838	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (@PHENOTYPICFEATURE$, retardation, adducted thumbs, spasticity, and hydrocephalus @DISEASE$, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+aba335aacff5ef29f17b83c44c1ae25204ba2b16	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, spasticity, and @PHENOTYPICFEATURE$ syndrome, @DISEASE$) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+8137ef4ddcf31a49dba97cd2f6bbd500b6df41cd	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (@PHENOTYPICFEATURE$, retardation, adducted thumbs, spasticity, and hydrocephalus syndrome, @DISEASE$) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+6a6269b2655651a6d04facd77515622012a4b9e0	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, @DISEASE$, and @PHENOTYPICFEATURE$ syndrome, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+6697a0ae55c9455cbe5131543283096a908ded56	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation.	has_symptom
+6cff3d4fe33629436ad5df7de06b9327990f231f	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @DISEASE$, agenesis of the corpus callosum and @PHENOTYPICFEATURE$.	false
+418b083e8e6b28d843e71a205e7afd4c240cfeeb	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, @DISEASE$, agenesis of the corpus callosum and mental retardation.	false
+6e60bee72d238bc5513ac2a4b18fe2ac8602cb52	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, @DISEASE$, agenesis of the corpus callosum and mental retardation.	false
+efa406e0f2a57391968b8c7593f1da9b73e4b072	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, @PHENOTYPICFEATURE$ and mental retardation.	false
+3a57681ef12ffee394a5a945d1ca5694785eeb72	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+1ac0d62335f75025d191e35e85943f802a2a89f8	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and @PHENOTYPICFEATURE$.	false
+414089b9b2601e4df29422265933e9db4d8dd5f4	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+5f63ac9227afb05a5fdc1b94f7856c76e2822928	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+4ebeefdce8c83c616082f08fd266fc5d1b7e5bea	@DISEASE$ (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, abnormal eye movements, and @PHENOTYPICFEATURE$.	has_symptom
+465be096d5073cc9dc626cb055ada2f59886255b	@DISEASE$ (JS) is an autosomal recessive ciliopathy characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal eye movements, and intellectual disability.	false
+051f4eb02cb819acd1794bd1c509b23a8368e8c0	Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal eye movements, and @DISEASE$.	false
+215958df2f1203e61ebbc423b4567d6c6dd56c56	Joubert syndrome (JS) is an autosomal recessive @DISEASE$ characterized by hypotonia, ataxia, @PHENOTYPICFEATURE$, and intellectual disability.	false
+19d346e0e6478d7e4b80eb0af70f4dd3f427063d	Joubert syndrome (JS) is an autosomal recessive @DISEASE$ characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal eye movements, and intellectual disability.	false
+f1b806d7b56b499dbd4a5a60d2179647e780c6c3	@DISEASE$ (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, @PHENOTYPICFEATURE$, and intellectual disability.	false
+ccc7b956b184f0b29dd6d1388234125a077e67cf	Joubert syndrome (JS) is an autosomal recessive ciliopathy characterized by hypotonia, ataxia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6b0e7a6b79d48ea483dd8a42bc236827b3e1231e	Here, we describe three children with @DISEASE$ in a family that had almost similar presentations, including ataxia, developmental delay, @PHENOTYPICFEATURE$ and ocular disorders.	has_symptom
+50f9bd184090552eb0d54257dedd2935f97945e6	Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including @PHENOTYPICFEATURE$, developmental delay, @DISEASE$ and ocular disorders.	false
+eea2ca510850eb36d0a8819b1198e5159133debf	Here, we describe three children with @DISEASE$ in a family that had almost similar presentations, including @PHENOTYPICFEATURE$, developmental delay, mental retardation and ocular disorders.	false
+562e37bf478d6e4b70fd91830c1c2b7b50e1fd73	@DISEASE$ (JS) is an autosomal recessive disorder, consisting of @PHENOTYPICFEATURE$, cerebellar vermis aplasia, an irregular breathing pattern, and retinal degeneration.	has_symptom
+2c98fc207e11ebcf4d348ce22e234de2f00279de	In @DISEASE$ (JBTS), NPHP may be associated with cerebellar vermis aplasia/hypoplasia, retinal degeneration and @PHENOTYPICFEATURE$.	has_symptom
+87526d6d77067b605feef8c2edfa77b954298b96	In @DISEASE$ (JBTS), NPHP may be associated with @PHENOTYPICFEATURE$, retinal degeneration and mental retardation.	false
+81048ef613a4437fd18c7d8346c135bdc96e1ade	In Joubert syndrome (JBTS), NPHP may be associated with @PHENOTYPICFEATURE$, retinal degeneration and @DISEASE$.	false
+e835928050c2b71f19997b89bba8d66afe081d43	In Joubert syndrome (JBTS), NPHP may be associated with cerebellar vermis aplasia/hypoplasia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9533660b0c6916fdfaf3f8d16889e65b34bb1544	In @DISEASE$ (JBTS), NPHP may be associated with cerebellar vermis aplasia/hypoplasia, @PHENOTYPICFEATURE$ and mental retardation.	false
+6166142c38d93bbf6adf1b6b4f2046def094d8ea	[@DISEASE$ without @PHENOTYPICFEATURE$].	has_symptom
+0f2a51a1a50f31807876f42eda3105bde5f9b750	The history of this child challenges the notion that @PHENOTYPICFEATURE$ is part of @DISEASE$.	has_symptom
+453958f06853e824ab5314454e7a88be83046810	Mutations in Arl13b cause @DISEASE$, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and @PHENOTYPICFEATURE$.	has_symptom
+26874d49dc77577a0c8c980db61dd548473cde61	Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital cerebellar ataxia, hypotonia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+871bd9e77d00afa4dd1411484180bbe9e8fd7586	Mutations in Arl13b cause @DISEASE$, which is characterized by congenital @PHENOTYPICFEATURE$, hypotonia, oculomotor apraxia, and mental retardation.	false
+4e828e280cc33350c699346f95f42e662ce23507	Mutations in Arl13b cause @DISEASE$, which is characterized by congenital cerebellar ataxia, hypotonia, @PHENOTYPICFEATURE$, and mental retardation.	false
+4d277639c82b37cc7a5721e49607760b54e622a6	Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital @PHENOTYPICFEATURE$, hypotonia, oculomotor apraxia, and @DISEASE$.	false
+e6b1c3afa5bda243b80d9fda20b6c28d757f5f5a	We present a so far unrecognized X-linked @PHENOTYPICFEATURE$ syndrome with features overlapping with @DISEASE$ (JBS).	has_symptom
+b4afd55bfb8cd28267ceb9ce5572b5d31e100602	@DISEASE$ is a ciliopathy defined by cerebellar vermis hypoplasia, oculomotor apraxia, intermittent hyperventilation, and @PHENOTYPICFEATURE$.	has_symptom
+a4bdb273de64c6b4c1bde52bb00c3896f0aab66b	@DISEASE$ is a ciliopathy defined by cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, intermittent hyperventilation, and mental retardation.	false
+f724de8da51d054e2b6bf3fb8189b50286777cf7	@DISEASE$ is a ciliopathy defined by @PHENOTYPICFEATURE$, oculomotor apraxia, intermittent hyperventilation, and mental retardation.	false
+22cbbe259a4705f9a4102564ec2ddab117795672	Joubert syndrome is a ciliopathy defined by cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, intermittent hyperventilation, and @DISEASE$.	false
+e14eb62b1a38694665202e7a7abc2f55268a5e46	Joubert syndrome is a ciliopathy defined by @PHENOTYPICFEATURE$, oculomotor apraxia, intermittent hyperventilation, and @DISEASE$.	false
+3d599d737d70de3b862e281d5faddd4b21aa5d8d	@DISEASE$ (JBTS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypotonia, ataxia, tachypnea/apnea, and abnormal eye movements.	has_symptom
+a51a86216bde9b1b2b5f7439a1177f8656f97d7b	@DISEASE$ (JBTS) is an autosomal recessive disorder characterized by intellectual disability, hypotonia, ataxia, tachypnea/apnea, and @PHENOTYPICFEATURE$.	false
+39d62266ec96d1916ed38ee1488c9650e5cd9dc1	Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by @DISEASE$, hypotonia, ataxia, tachypnea/apnea, and @PHENOTYPICFEATURE$.	false
+b67970d00afa93ba99ea30370f597604be8d27a0	@DISEASE$ (JBTS) is an autosomal recessive disorder characterized by intellectual disability, hypotonia, @PHENOTYPICFEATURE$, tachypnea/apnea, and abnormal eye movements.	false
+a46915d5e90b9a44abf7aeae4e8d94781c187c2d	Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by @DISEASE$, hypotonia, @PHENOTYPICFEATURE$, tachypnea/apnea, and abnormal eye movements.	false
+ba5179c45329e8505b5933ed90594d90fce99011	Cleft lip, @PHENOTYPICFEATURE$, @DISEASE$ and germline mutations in CDH1.	has_symptom
+d6e87118b400aaf4815f5409b13e23c71bf1636d	Of the fetuses autopsied, 41.7% had hypodontia (29.1% maxillary @DISEASE$ and 20.9% mandibular @PHENOTYPICFEATURE$).	has_symptom
+1922c3f6ce0df5fb9729a41f843db1740b9c8795	Of the fetuses autopsied, 41.7% had @PHENOTYPICFEATURE$ (29.1% maxillary @DISEASE$ and 20.9% mandibular hypodontia).	has_symptom
+6629050f05a1a37396c4416fa09d5063c571be4a	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder that causes hearing loss, Retinitis Pigmentosa (RP) and vestibular dysfunction.	has_symptom
+b8c3d358d155d6e08144a01717692f906a9ba063	Usher syndrome is an autosomal recessive disorder that causes hearing loss, @DISEASE$ (RP) and @PHENOTYPICFEATURE$.	false
+e610374e56076d1277b93a9cd012ac34afd18886	@DISEASE$ is an autosomal recessive disorder that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+a04170ed08242d43b2952627caa2c073d853b241	Usher syndrome is an @DISEASE$ disorder that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+eee5fe0dee92c9d7142536af3701f1930d7d1559	Usher syndrome is an autosomal recessive @DISEASE$ that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+af452495ed70bd81ecb5c103990edc8820e94963	Usher syndrome is an autosomal recessive disorder that causes @DISEASE$, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	false
+3556d04c684aeba5b49f31559098ec9a29ce01d5	Children affected with @DISEASE$ present with motor dysfunction, cognitive decline, intractable @PHENOTYPICFEATURE$, and premature death between two to five years of age.	has_symptom
+892254d2599bcd0cf082df68d956aad8393010e2	A syndrome of @DISEASE$ associated with recurrent childhood @PHENOTYPICFEATURE$ is linked to chromosome 5p.	has_symptom
+6774f489c4797ca8715f44a217088c1cb5524c2f	We describe the pattern of early childhood @PHENOTYPICFEATURE$ within a family with autosomal dominant @DISEASE$ (CCAL, which causes adult-onset arthritis).	has_symptom
+b77f6a5a2f474209bde947f0cf6913a92254c6b5	Autosomal dominant early childhood @PHENOTYPICFEATURE$ associated with @DISEASE$ and a mutation in the ANKH Gene.	has_symptom
+28ff2fa9b7baab5765aecf32334cb8e864f003d5	This population-based, retrospective cohort study used hospital discharge abstract data for children and adults admitted to hospital from 2009 to 2015 with 1 of 9 neurologic conditions (@DISEASE$ and related dementia, brain tumor, epilepsy, motor neuron disease, multiple sclerosis, @PHENOTYPICFEATURE$/Parkinson disease, spinal cord injury, traumatic brain injury, and stroke).	has_symptom
+819e8a827adfb2b2871a5bf57ddcf694eb8cc9ac	Microglial cells are among the major players in immunoinflammatory, degenerative, and neoplastic disorders of the central nervous system, including multiple sclerosis, @PHENOTYPICFEATURE$'s disease, @DISEASE$, and glioblastoma multiforme.	has_symptom
+99b22d94adb0fa0fcf85054119ca4c7850f62a1d	PARK2 mutations are associated with juvenile @PHENOTYPICFEATURE$, @DISEASE$, cancer, leprosy, and diabetes mellitus, yet ironically, there has been no comprehensive study of PARK2 in control subjects; and to resolve controversial association of PARK2 heterozygous mutations with Parkinson disease (PD) in a well-powered study.	has_symptom
+ed1ee78298f0041a672d4149b61a12ffbaa5e536	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic heart failure, @PHENOTYPICFEATURE$'s disease, @DISEASE$, diabetes mellitus, sickle cell anemia and Huntington disease.	has_symptom
+c56d1d20333dd0476cbfcea9316c24a41ae4f7a3	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic @PHENOTYPICFEATURE$, Parkinson's disease, @DISEASE$, diabetes mellitus, sickle cell anemia and Huntington disease.	false
+1f96bc2c47572a872217cec640e5847dd1da8811	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic @PHENOTYPICFEATURE$, Parkinson's disease, Alzheimer's disease, diabetes mellitus, sickle cell anemia and @DISEASE$.	false
+12f0169aba1078e1053839907055c9d4735ffd41	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic @PHENOTYPICFEATURE$, Parkinson's disease, Alzheimer's disease, diabetes mellitus, @DISEASE$ and Huntington disease.	false
+2ee65f0378002b3b697552ceec93dc1ab9bfb858	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic @PHENOTYPICFEATURE$, @DISEASE$'s disease, Alzheimer's disease, diabetes mellitus, sickle cell anemia and Huntington disease.	false
+7081d566c9e07369754c08edff70ee9887630155	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic @PHENOTYPICFEATURE$, Parkinson's disease, Alzheimer's disease, @DISEASE$, sickle cell anemia and Huntington disease.	false
+933875ccf3a93ad5ae97c49d452c887aae2c20c8	Using data collected at a first study visit, multiple regression modeling was used to examine the associations between Braak staged @DISEASE$ (AD) pathology, Apolipoprotein E (ApoE) status, @PHENOTYPICFEATURE$ gait, cognition, and functional status from a cohort of 102 cases with an autopsy-confirmed diagnosis of dementia stemming from combined Lewy body and AD pathology.	has_symptom
+2bbee40947df09bc46e69c426630295768b7c679	This gene is implicated in the pathogenesis of autosomal recessive juvenile @PHENOTYPICFEATURE$ and it has been recently linked to cancer, leprosy, autism, type 2 diabetes mellitus and @DISEASE$.	has_symptom
+37d917c685edea7a43a2cde84ee8839c77ecfebe	This gene is implicated in the pathogenesis of autosomal recessive juvenile Parkinsonism and it has been recently linked to cancer, leprosy, @PHENOTYPICFEATURE$, type 2 diabetes mellitus and @DISEASE$.	false
+abc2bd4180193961e185f18ffe59a362ab3f1662	This gene is implicated in the pathogenesis of autosomal recessive juvenile Parkinsonism and it has been recently linked to @DISEASE$, leprosy, @PHENOTYPICFEATURE$, type 2 diabetes mellitus and Alzheimer's disease.	false
+1508cc6289d97b1b964e32c699a40d9e7b3c3d6b	This gene is implicated in the pathogenesis of autosomal recessive juvenile Parkinsonism and it has been recently linked to cancer, leprosy, @PHENOTYPICFEATURE$, @DISEASE$ and Alzheimer's disease.	false
+60ff6e38e78e27812ad1c59f3af6cdf2bba8195d	This gene is implicated in the pathogenesis of autosomal recessive juvenile @DISEASE$ and it has been recently linked to cancer, leprosy, @PHENOTYPICFEATURE$, type 2 diabetes mellitus and Alzheimer's disease.	false
+0eefff1d47b067198588db01814743a7b11e3d7f	However, due to pleiotrophic ligand-receptor properties, its role in a variety of seemingly unrelated disorders, including multiple sclerosis, @PHENOTYPICFEATURE$'s disease, @DISEASE$, systemic lupus erythematosus and urological cancers, has been investigated in many studies.	has_symptom
+c97977ee69d65e74f06155685eec3cdef88757a8	To assess the value of smell testing we used olfactory evoked potentials (OEP) and an identification test in multiple sclerosis, @PHENOTYPICFEATURE$'s disease, motor neuron disease and @DISEASE$.	has_symptom
+67681cde587c7384242730567abf43f65cf3f283	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild @PHENOTYPICFEATURE$, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	has_symptom
+182f0ee57f0e952faaf489d28d2764625a8a7540	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+ba3bddd75e3a44fe52c402da4cff4a2fb22e0613	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+9c386139473ed38eaed5fe7ac31b037a49cbc475	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the @DISEASE$ region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+0134b0454a05548b5263cd0e19e023ba588225ac	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+9f38fb88ed4e3c80344f0624b3fa32c33c4f881c	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the @DISEASE$ region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+1e2b26d8a366208c96fdd4b1d18ad48b9fbb8463	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild @DISEASE$, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+d446a76d575facd50b90cc98b7be2cb00be2a53e	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild @DISEASE$, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+e936be6fed298a3d076dadfbbf3509a109ef320b	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+5ff228c8fe3ab1236749a8e2e6d1d84a71250e19	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+c1f7d3a95f4521eb30a1435c651c5703526d2598	@DISEASE$ (MJD) is an autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+1de645dde1ff68acc73af36860864b5ebecd0dbe	Machado-Joseph disease (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+f50d20ab20e246d771123d8130e66a6cad9a2543	We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, @PHENOTYPICFEATURE$ and seizures and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	has_symptom
+c4e73750ff6edc81c110e5109626cca0dee1f095	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	false
+f249dc9c875695b2498a9b4be50a67687a99f92d	We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, @DISEASE$ and @PHENOTYPICFEATURE$ and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+7f87b15f8201ac33c4f344a8d98937cc50de695b	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with spastic quadriplegia, @DISEASE$ and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+4e86e63171465dabbe155d553b7d4153d00daf73	We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, microcephaly and @PHENOTYPICFEATURE$ and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	false
+e6da31a794bcea7dfc35ef9196b34d3e420ef4df	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with @DISEASE$, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+5a23cb04c51483d45876b14e339e7656c030bb75	We have studied two unrelated girls presenting a static encephalopathy with @DISEASE$, microcephaly and @PHENOTYPICFEATURE$ and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+df792fec6bb52eab10dcdb2534906f6491b43a2c	In addition to the lactic acidosis associated with @DISEASE$, ten of the cases showed evidence of facial dysmorphism consisting of a narrow head, wide nasal bridge and flared nostrils or gross @PHENOTYPICFEATURE$.	has_symptom
+dc30ccdcc732372cbbebf7388892590e9e00feae	We describe a patient with @PHENOTYPICFEATURE$, sensorineural hearing loss and arm claudication in whom a diagnosis of 'atypical' Cogan's syndrome and @DISEASE$ was made.	has_symptom
+c845b0db32ad9aebd917dac0179e009619927813	We describe a patient with @DISEASE$, @PHENOTYPICFEATURE$ and arm claudication in whom a diagnosis of 'atypical' Cogan's syndrome and Takayasu's arteritis was made.	false
+a96b6312166df580f31e4a7b3ee56b296ae19ff3	We describe a patient with ocular inflammation, @PHENOTYPICFEATURE$ and arm claudication in whom a diagnosis of 'atypical' Cogan's syndrome and @DISEASE$ was made.	false
+bcc5a323aa8d79e3ae70039f80d1357b3081c83a	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, inflammatory bowel disease and @DISEASE$.	has_symptom
+fedfa47b210df40b9520b4aa3a96bb8b0e2eca2e	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive @DISEASE$, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+6a866893ed11ad361ef06b0102f1e8399b1fa5e0	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, @DISEASE$ and Takayasu's arteritis.	false
+8733135c1fc342bf63ea1057367729ecc39847a5	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, @DISEASE$, inflammatory bowel disease and Takayasu's arteritis.	false
+7c4e4d8fdd6c907681d3b8cf232d5a891da58295	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, @DISEASE$, inflammatory bowel disease and Takayasu's arteritis.	false
+2b5b57c9fa6980492e4ee945cadfc630e74f20e0	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, @DISEASE$, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+039577dc5133c5366cf21b84d79b2dad50f61c55	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as @DISEASE$, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+38ec561e8f4cd15316bee3a83ef52de7cc08260e	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @DISEASE$, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+bc9c49da79864010bc00d3df70247dff08fb4266	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, @DISEASE$ and Takayasu's arteritis.	false
+3311d5109ebd299eaf43dea2f6417afceffc6e9a	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and @DISEASE$.	false
+141213869a96cdb1487cf6e203a8aeba16664a25	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @DISEASE$, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+adb605ca39f496b992c448ba55d44501eae0180b	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, @DISEASE$, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+78b7f8a67bd3c73af730bee924e0464b32affcd6	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive @DISEASE$, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+a564d0064d0a67709c605a9372042229bcfd2d3a	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and @DISEASE$.	false
+cdce02f804b7a04b3b549d4da6b08ff4e96b6994	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as @DISEASE$, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+93145704dd092852887be59a0bd0bc9255a521ef	The syndrome of functioning adrenocortical tumors includes Cushing's syndrome, primary aldosteronism and the adrenorge genital syndrome, of which a minority presents most of the specific clinical features: Cushing's syndrome; red face, typical moon face, truncal obesity, and purplisch red striae, primary aldosteronism; muscle weakness, noctural polyuria, hypertension and @PHENOTYPICFEATURE$, @DISEASE$; virilization or feminization, but many of them present complete clinical picture.	has_symptom
+84de2472fddb0d3e2bcfef25bc8198aabcc84457	Mineralocorticoid hypertension, characterized by spontaneous @PHENOTYPICFEATURE$ with excessive kaliuresis and low plasma renin activity, is most commonly caused by aldosterone-producing adenoma or, less frequently, by nonadenomatous @DISEASE$.	has_symptom
+c3b996449e1ef7385fe123b524eab7348ea9732a	Investigation of adrenal incidentalomas led to the discovery of a family (eight affected individuals spanning three generations), prone to cortisol resistance, bilateral @DISEASE$, arterial hypertension and @PHENOTYPICFEATURE$.	has_symptom
+376e84a7382d2fc47692fd11541b7ac51905f61c	Investigation of adrenal incidentalomas led to the discovery of a family (eight affected individuals spanning three generations), prone to cortisol resistance, bilateral adrenal hyperplasia, arterial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fb5404a4877f25ad847975877ce8908a48912f1e	Investigation of adrenal incidentalomas led to the discovery of a family (eight affected individuals spanning three generations), prone to cortisol resistance, bilateral @DISEASE$, arterial @PHENOTYPICFEATURE$ and hypokalemia.	false
+42c1904af697fa66acc0c2ab45b2112327fada59	Individuals with borderline personality disorder (@DISEASE$) frequently suffer from @PHENOTYPICFEATURE$.	has_symptom
+6ebe1f0f0fec32fbc0e5dd46b0800e846645bdbc	These results demonstrate an association between subjective @PHENOTYPICFEATURE$ and recovery status among @DISEASE$ patients.	has_symptom
+633bc45beca95f703c9505ee23d2598d5a94a134	To examine the results of previous studies in polysomnography in @DISEASE$ to better characterize the objective @PHENOTYPICFEATURE$ in this population.	has_symptom
+f69fab3de882b82823d550d7d3a6899ba9fca61a	@PHENOTYPICFEATURE$ are consistently associated with @DISEASE$ symptoms, as are the daytime consequences of poor sleep.	has_symptom
+0810cc929a7cd364a177720b3ce0994303eb11f0	Patients with borderline personality disorder (BPD) frequently experience @PHENOTYPICFEATURE$, however, the role of sleep quality in the course of @DISEASE$ is unknown.	has_symptom
+60746104815485a6bccf8263322fc353652cbdbe	Patients with borderline personality disorder (@DISEASE$) frequently experience @PHENOTYPICFEATURE$, however, the role of sleep quality in the course of BPD is unknown.	has_symptom
+f6b9243945da90f6aefdabc7e526e1848e46a4cf	Furthermore, @DISEASE$ patients frequently report suffering from @PHENOTYPICFEATURE$.	has_symptom
+35bc4ff8c1180defad426a7691ef648e2d00a85c	The evidence accrued to date indicates that @PHENOTYPICFEATURE$ are common among youth with @DISEASE$.	has_symptom
+04f4468a0c94b9576e45ab5510b20699e4fa95eb	Recognition and management of dream and @PHENOTYPICFEATURE$ in @DISEASE$ patients might lead to improvements in their global clinical picture.	has_symptom
+14000a64589ce5ffaba68336cbbb45c922f2ff0d	@DISEASE$ is associated with comparable @PHENOTYPICFEATURE$ to those observed in depression.	has_symptom
+9cbac3c916c400cedb94edf808df97429af0fccc	In addition, several studies report sleep subjective complaints in patients with @DISEASE$, and research has explored objective @PHENOTYPICFEATURE$.	has_symptom
+d43f0d2fcd33c76b5e386722e1113cebfb525b4d	@PHENOTYPICFEATURE$ and visual impairment are the first signs of @DISEASE$ caused by CLN3 mutations, followed by inevitable progression to blindness.	has_symptom
+3149dd54450ff29d89f74c47748e0e8047a9d89d	Retinal degeneration and @PHENOTYPICFEATURE$ are the first signs of @DISEASE$ caused by CLN3 mutations, followed by inevitable progression to blindness.	false
+da215cb48eac0ad32c12faebe4e181125ff1d216	@DISEASE$ and @PHENOTYPICFEATURE$ are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to blindness.	false
+9dcfeaad52f5af4754e6e4e9eb6dab0bbd187d9a	Retinal degeneration and @PHENOTYPICFEATURE$ are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to @DISEASE$.	false
+b5e5ed8fcd6c278810b201cacb01a7251ad86bd0	Even as a rare multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome, the @DISEASE$ (CS, or Opitz C-trigonoecephaly syndrome) is, at long last, beginning to attract attention because of its developmental and causal complexity.	has_symptom
+8120f94f07279fc524cb280735db34e33c4db7ae	Congenital ornithine transcarbamylase (@DISEASE$) deficiency in humans results in failure to thrive, hypotonia, seizures and @PHENOTYPICFEATURE$.	has_symptom
+caf19e6ac9f5f5391ea6d17d97cc0b6d0c799104	The @DISEASE$ is a multiple congenital anomaly/@PHENOTYPICFEATURE$ (MCA/MR) syndrome first described in sibs.	has_symptom
+8ede5e38bc820997b5669f6b1a67df378a00559b	Opitz-@DISEASE$: on the nosology of @PHENOTYPICFEATURE$ and trigonocephaly.	has_symptom
+0b1cd740468aa0c41d5874a32f9bba2d10cc58bc	Congenital ornithine transcarbamylase (@DISEASE$) deficiency in humans is associated with seizures and @PHENOTYPICFEATURE$.	has_symptom
+eaca344926eb819032856713a418ddda8a9d97d5	Congenital ornithine transcarbamylase (@DISEASE$) deficiency in humans is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+ab60d5aa3292aa025ee7b2af871c19a477f16229	Congenital ornithine transcarbamylase (OTC) deficiency in humans is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1b3beaa56c05ddac7dcedf25725260695e2347c5	@DISEASE$ (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, @PHENOTYPICFEATURE$, a typical facial appearance, redundant skin, joint and limb abnormalities, and visceral anomalies.	has_symptom
+92a406da88986787867ef36012009c90a5f5e7d8	Opitz trigonocephaly C syndrome (OTCS) is a multiple congenital anomaly @DISEASE$ characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and @PHENOTYPICFEATURE$, and visceral anomalies.	false
+0d69698efcd06f074df9b0d9d234d9a2a28c0bf2	Opitz trigonocephaly C syndrome (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, @DISEASE$, a typical facial appearance, redundant skin, joint and @PHENOTYPICFEATURE$, and visceral anomalies.	false
+ca97654d41e3183dda03de7bece4554e2682f011	Opitz trigonocephaly C syndrome (OTCS) is a multiple @DISEASE$ syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and @PHENOTYPICFEATURE$, and visceral anomalies.	false
+8b02cc1fa7998f7ead81b8345e53b97aa5c3e328	@DISEASE$ (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and @PHENOTYPICFEATURE$, and visceral anomalies.	false
+6d08c01ac7cb919ff5b3e9b22efa2be310a95687	A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, @PHENOTYPICFEATURE$, short stature, small hands and feet, and abnormal dentition, which are typical of the @DISEASE$.	has_symptom
+764d9d896aa270a4b8f860b5296b6c8fc89e8444	A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, @DISEASE$, @PHENOTYPICFEATURE$, small hands and feet, and abnormal dentition, which are typical of the Prader-Willi syndrome.	false
+2726af6b47d534aa7b3871513efe60470754c7a7	A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, @PHENOTYPICFEATURE$, @DISEASE$, short stature, small hands and feet, and abnormal dentition, which are typical of the Prader-Willi syndrome.	false
+74028f60437ca7cb0a3891bd2892e70b5b233abb	A 25-year-old woman is described whose clinical features included infantile hypotonia, @PHENOTYPICFEATURE$ after infancy, intellectual impairment, dysmorphic facial features, short stature, small hands and feet, and abnormal dentition, which are typical of the @DISEASE$.	false
+4bdf991e2d885e4b34991834c6667bcbd34d7e16	A 25-year-old woman is described whose clinical features included infantile hypotonia, @PHENOTYPICFEATURE$ after infancy, intellectual impairment, @DISEASE$, short stature, small hands and feet, and abnormal dentition, which are typical of the Prader-Willi syndrome.	false
+db2deccc3abe420f5f801293b4b447b02cf61f30	A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, @PHENOTYPICFEATURE$, dysmorphic facial features, short stature, small hands and feet, and abnormal dentition, which are typical of the @DISEASE$.	false
+0129d2744d0c95aba767424f84cdcc0d2dcc138d	A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, dysmorphic facial features, @PHENOTYPICFEATURE$, small hands and feet, and abnormal dentition, which are typical of the @DISEASE$.	false
+7d45c96eda3b6274bbff2b157d043a6943af22b9	@DISEASE$ (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, @PHENOTYPICFEATURE$, intellectual disability, and behavioral problems.	has_symptom
+99b1824d6f507e1995202059f77dcbf95d8db411	@DISEASE$ (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset @PHENOTYPICFEATURE$, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems.	false
+9846f27e4f309ccbec884ca18e52d13f212febdb	Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, and behavioral problems.	false
+ae51cfb5a2fa0265d4627c1e91830d02bd4013b1	Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, @DISEASE$, @PHENOTYPICFEATURE$, and behavioral problems.	false
+a3947765b79995b197701d28ac72f5f7ade4ddea	Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset @PHENOTYPICFEATURE$, hyperphagia, short stature, @DISEASE$, intellectual disability, and behavioral problems.	false
+f98893eef6effb230083db043d6df82a4a4937df	@DISEASE$ (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, @PHENOTYPICFEATURE$, facial dysmorphism, intellectual disability, and behavioral problems.	false
+04000ae8e0cc4d6fe8935368980e1ca9fb9fac5d	@DISEASE$ (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, @PHENOTYPICFEATURE$, and behavioral problems.	false
+f0455b0520bc058b346a5e74637582bf4bf4783d	Here we report a case of an 18-year-old boy with some clinical features of @DISEASE$, such as overweight, muscular hypotonia, @PHENOTYPICFEATURE$ and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation.	has_symptom
+ad6948e7c88a830362446422e981079f179bc035	Here we report a case of an 18-year-old boy with some clinical features of @DISEASE$, such as overweight, @PHENOTYPICFEATURE$, facial dysmorphism and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation.	false
+41e22f02d1bca9307f741222cdf09602c2fe4422	Here we report a case of an 18-year-old boy with some clinical features of Prader-Willi syndrome, such as overweight, @PHENOTYPICFEATURE$, @DISEASE$ and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation.	false
+2951ad127aea0c760a88ef5d5a29d7949a519985	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @PHENOTYPICFEATURE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	has_symptom
+8a62b6478d07c596d712fcc5ea5b4e6ba77ec1ba	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The @DISEASE$ is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @PHENOTYPICFEATURE$.	false
+8cd9846839c78a77cd83cdfd0dba13d5bed9073e	Prader-Willi syndrome is an uncommon multisystem @DISEASE$ caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @PHENOTYPICFEATURE$.	false
+c272e7b41f0c38be36d8a8f01a240c09c488c6b9	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @DISEASE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @PHENOTYPICFEATURE$.	false
+31c0619eb675cb413d79bd8540fdfee1aa2b8119	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and @PHENOTYPICFEATURE$.	false
+0d951f429999a5df920527f1d916387b5c63b08c	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+f34804c20743639f43f83bba9711bc698c19a9e8	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+42b63112a1fc2cb46d213cf331a0b7dc635b2ebd	Prader-Willi syndrome is an uncommon multisystem @DISEASE$ caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+4d2f1666153a427164bb026dd40324117e4f6010	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The @DISEASE$ is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+da02edb2cd2042f5bbefda039c218076feaa3521	@DISEASE$ is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+913c24271cf78a5a756f25d79e003e416fed9908	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The @DISEASE$ is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+4cedffdd513e20262f86c003dc69a8feb2001794	Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, @DISEASE$, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+f5e5dd9021bccb8191fcaaf2e6a662f8b6aa9dce	Prader-Willi syndrome is an uncommon multisystem @DISEASE$ caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, @PHENOTYPICFEATURE$, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism.	false
+5f5b62e229d91b21601494d54e7e7e27c2620a92	@DISEASE$ is a neurodegenerative disease which typically starts in the first months of life with @PHENOTYPICFEATURE$ and developmental standstill.	has_symptom
+0c1b493bf64660d0d1e2dee3a373b92774661c41	The aim of this study was to measure the erythrocytes catalase activity by a reliable method in normal subjects with different age categories, and patients whom suffer from different diseases associated with oxidative stress (inflammatory, tumor, diabetes, cardiovascular diseases, @PHENOTYPICFEATURE$ and @DISEASE$).	has_symptom
+9a7ad41b94cfe8bc9cb4bcf369f9d77d0490e924	The aim of this study was to measure the erythrocytes catalase activity by a reliable method in normal subjects with different age categories, and patients whom suffer from different diseases associated with oxidative stress (inflammatory, @PHENOTYPICFEATURE$, @DISEASE$, cardiovascular diseases, anemia and Wilson's disease).	false
+23cb8e1e7d7c721e1c77db4cb859466d4819fda4	The aim of this study was to measure the erythrocytes catalase activity by a reliable method in normal subjects with different age categories, and patients whom suffer from different diseases associated with oxidative stress (inflammatory, @PHENOTYPICFEATURE$, diabetes, cardiovascular diseases, @DISEASE$ and Wilson's disease).	false
+456983b2768d3bf0947b477b901e779731dbb80a	The aim of this study was to measure the erythrocytes catalase activity by a reliable method in normal subjects with different age categories, and patients whom suffer from different diseases associated with oxidative stress (inflammatory, @PHENOTYPICFEATURE$, diabetes, @DISEASE$, anemia and Wilson's disease).	false
+761cad3d821e1edff1eeca82a3047a4403d24f1d	The aim of this study was to measure the erythrocytes catalase activity by a reliable method in normal subjects with different age categories, and patients whom suffer from different diseases associated with oxidative stress (inflammatory, @PHENOTYPICFEATURE$, diabetes, cardiovascular diseases, anemia and @DISEASE$).	false
+820a43f2e59f54095e54fe65802706c1397cb701	There was an increase in catalase activity in all studied patients suffering from oxidative stress (cardiovascular diseases, diabetes, tumor, inflammation, dermatological diseases, @PHENOTYPICFEATURE$ and @DISEASE$).	has_symptom
+ae7a3c3754b8aed958c295657aa6de7befbc5a10	There was an increase in catalase activity in all studied patients suffering from oxidative stress (cardiovascular diseases, @DISEASE$, @PHENOTYPICFEATURE$, inflammation, dermatological diseases, anemia and Wilson's disease).	false
+e5172c2a31e03c33a7179989014c23b25898d3f8	There was an increase in catalase activity in all studied patients suffering from oxidative stress (cardiovascular diseases, diabetes, @PHENOTYPICFEATURE$, inflammation, dermatological diseases, @DISEASE$ and Wilson's disease).	false
+daf4cc5b1445003c7bd51e98d45cadb4cc41d03f	There was an increase in catalase activity in all studied patients suffering from oxidative stress (cardiovascular diseases, diabetes, @PHENOTYPICFEATURE$, inflammation, dermatological diseases, anemia and @DISEASE$).	false
+c3cd48dee9c269ff8127fdc044477c7acfcf6a9c	There was an increase in catalase activity in all studied patients suffering from oxidative stress (@DISEASE$, diabetes, @PHENOTYPICFEATURE$, inflammation, dermatological diseases, anemia and Wilson's disease).	false
+6e5ddf621bb836ab79eb67584aff5879d263ca90	@DISEASE$ is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, @PHENOTYPICFEATURE$ and webbed fingers.	has_symptom
+ce87799cce0b31f010cfb242608ce4d3953046d3	@DISEASE$ is a congenital disease characterized by severe growth retardation and variable dysmorphic features such as a small triangular face, micrognathia, asymmetry (usually of the limbs), @PHENOTYPICFEATURE$ and clinodactyly.	has_symptom
+408c2f9fc3b1c3b23d6a8e2b9a75ac3ce0f5d540	Silver-Russell syndrome is a congenital disease characterized by severe @PHENOTYPICFEATURE$ and variable dysmorphic features such as a small triangular face, micrognathia, asymmetry (usually of the limbs), @DISEASE$ and clinodactyly.	false
+6c58ad19099053e47e9734ad84f63a2cc84235c7	Silver-Russell syndrome is a congenital disease characterized by severe growth retardation and variable dysmorphic features such as a small triangular face, @PHENOTYPICFEATURE$, asymmetry (usually of the limbs), @DISEASE$ and clinodactyly.	false
+fac95e680f44a31c9caa03f1aaf729c2a347acd9	@DISEASE$ is a congenital disease characterized by severe growth retardation and variable dysmorphic features such as a small triangular face, @PHENOTYPICFEATURE$, asymmetry (usually of the limbs), syndactyly and clinodactyly.	false
+88c7a02fef1abf014f1733da83f699f55b961ff3	@DISEASE$ is a congenital disease characterized by severe @PHENOTYPICFEATURE$ and variable dysmorphic features such as a small triangular face, micrognathia, asymmetry (usually of the limbs), syndactyly and clinodactyly.	false
+e792d8ca638c8b815fdf852d8681c62eff983f74	The skin manifestations of patients with @DISEASE$ are scaly, pruritic, diffuse @PHENOTYPICFEATURE$, reticular pigmentation, moderate hypertrichosis, seborrheic eczema, atopy and vitiligo.	has_symptom
+544beb714d490135544272a73a08460b50be8669	The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse erythema, reticular pigmentation, moderate @PHENOTYPICFEATURE$, @DISEASE$, atopy and vitiligo.	false
+bf11b0faf5e64f7ce38a227bf38bb70aac98857e	The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse @DISEASE$, reticular pigmentation, moderate @PHENOTYPICFEATURE$, seborrheic eczema, atopy and vitiligo.	false
+ae1bae93398c38bcb42daca01849ca204ba991e0	The skin manifestations of patients with @DISEASE$ are scaly, pruritic, diffuse erythema, reticular pigmentation, moderate @PHENOTYPICFEATURE$, seborrheic eczema, atopy and vitiligo.	false
+44bfe41210b031a7dd64be4dc14ddbcdbb88cac8	@DISEASE$ (SCLC) is one of the most aggressive @PHENOTYPICFEATURE$, with poor survival rates.	has_symptom
+e0d40101af84109e6643e8554b44e418c4777e14	The research was concerned with electron microscopic analysis of 34 @PHENOTYPICFEATURE$ histologically identified as @DISEASE$.	has_symptom
+30d8647ff708b0ad72c81e238ce387d7cf41b292	@DISEASE$ (SCLC) is an aggressive @PHENOTYPICFEATURE$ subtype with poor prognosis.	has_symptom
+5218cdbe69ef422fbe06107ac278b2510a0d50fb	High-grade neuroendocrine @PHENOTYPICFEATURE$, including @DISEASE$, are part of this group.	has_symptom
+63ecbcd450755b6ad03de2a8be3af95d314bbeb5	SSTR may be expressed by @PHENOTYPICFEATURE$, particularly @DISEASE$ and bronchial carcinoid disease.	has_symptom
+b9cbc3a67a81d734cc80324c6c79116d0ce4beb7	@DISEASE$ (SCLC) is one of the most aggressive @PHENOTYPICFEATURE$.	has_symptom
+7594db0776e091a724c85d9bb193eee860246bbf	@DISEASE$ (SCLC) is the most aggressive of @PHENOTYPICFEATURE$, metastasize widely and are virtually incurable by surgical means.	has_symptom
+f21566afe9afd4538940eb1682b7b033211cd63f	Temporal @PHENOTYPICFEATURE$ volume changes in @DISEASE$ patients undergoing chemoradiotherapy.	has_symptom
+870591525b511b296b3364ae3b7bd01fbdbe91e8	@DISEASE$ (SCLC) is an aggressive and invasive variant of @PHENOTYPICFEATURE$.	has_symptom
+7904055f0169ea66734cbd751be0a9878898e95f	In all patients, the @PHENOTYPICFEATURE$ were pathologically proven as @DISEASE$.	has_symptom
+a2e4a649c102f65b304b40816f2f7431e509fa26	@PHENOTYPICFEATURE$ and sudden death in patients with @DISEASE$: a systematic review	has_symptom
+bac892e490806bfa4df9ce0d881942c4390ed528	@DISEASE$ (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, gait ataxia, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac @PHENOTYPICFEATURE$.	has_symptom
+5322d02700eafeb64553c78c84d36b09a6443704	Rett syndrome (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, @PHENOTYPICFEATURE$, jerky truncal @DISEASE$, deceleration of brain and body organ growth and cardiac dysautonomia.	false
+273ee3a8452e877bd88002bf5fba6e7c9f4241c4	Rett syndrome (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, @PHENOTYPICFEATURE$, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac @DISEASE$.	false
+e02457fd3278976632384c12cf9d36590e4abe95	@DISEASE$ (RTT) is a severe developmental-neurological disorder, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, @PHENOTYPICFEATURE$, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac dysautonomia.	false
+7f61b0616ee996f9d78eb1e0e2f6bcac4a183ce1	Rett syndrome (RTT) is a severe developmental-@DISEASE$, characterized by profound and progressive loss of intellectual functioning, occurring after a period (of at least 6 months) of normal development with classic stereotype hand movements, @PHENOTYPICFEATURE$, jerky truncal ataxia, deceleration of brain and body organ growth and cardiac dysautonomia.	false
+63e32f28ddc672db0cb7524063b1367fc6092cc1	The aim of our study was to evaluate the relation between cardiac @PHENOTYPICFEATURE$ (expressed by means of heart rate variability) and plasma serotonin levels in girls affected with @DISEASE$.	has_symptom
+7331e1203bd19cbbb0219b2e681c19c955354ca6	@PHENOTYPICFEATURE$ is prevalent in girls with @DISEASE$, an X-chromosome-linked disorder of mental retardation resulting from mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2).	has_symptom
+93d0fd20ce9e92fc03a4e87b7848e1d0e3d7672e	@DISEASE$ is prevalent in girls with Rett syndrome, an X-chromosome-linked disorder of @PHENOTYPICFEATURE$ resulting from mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2).	false
+00f38eea39727e6e61dac932a707b16bda34814d	Autonomic dysfunction is prevalent in girls with @DISEASE$, an X-chromosome-linked disorder of @PHENOTYPICFEATURE$ resulting from mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2).	false
+ed001f61c19b0ec46379f904df238fbb77baa45e	N-Acetylaspartic acid accumulates in @DISEASE$, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, macrocephaly and generalized tonic and clonic type @PHENOTYPICFEATURE$.	has_symptom
+7a9fc01b80b3f655c5b39982133e16d37972d6a4	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited @DISEASE$ clinically characterized by severe mental retardation, hypotonia, @PHENOTYPICFEATURE$ and generalized tonic and clonic type seizures.	false
+9ecece64cfbb960a5c914cf5b6b867187171a513	N-Acetylaspartic acid accumulates in @DISEASE$, a severe inherited neurometabolic disease clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly and generalized tonic and clonic type seizures.	false
+92847ef1118da4d1a0c6f3223b2b7c4594f09cc5	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, @PHENOTYPICFEATURE$ and generalized tonic and clonic type @DISEASE$.	false
+c8aa383e1c34568d3712fc92605c848c8f436564	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited neurometabolic disease clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly and generalized tonic and clonic type @DISEASE$.	false
+f9ad3ba401f58eb71a85f28ce4f183a799307a97	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited @DISEASE$ clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly and generalized tonic and clonic type seizures.	false
+fad55195879326a385696acb5aaf0c11cd408403	N-Acetylaspartic acid accumulates in @DISEASE$, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, @PHENOTYPICFEATURE$ and generalized tonic and clonic type seizures.	false
+e000902cd3138f8661a6b24d2fc3a875f98296ea	We report a ten-month old boy with @DISEASE$ who presented with global developmental delay, @PHENOTYPICFEATURE$, abnormal eye movements and microcephaly.	has_symptom
+258d7a7a24319aa695c6b56f33c427cce7c981af	We report a ten-month old boy with @DISEASE$ who presented with global developmental delay, seizures, @PHENOTYPICFEATURE$ and microcephaly.	false
+c405e40cf2609295744a7006a84b8a62b984a372	We report a ten-month old boy with Canavan disease who presented with global developmental delay, @DISEASE$, @PHENOTYPICFEATURE$ and microcephaly.	false
+98bfae75eed8daee06dd4ad56508184e5ec40c38	We report a ten-month old boy with Canavan disease who presented with global developmental delay, @DISEASE$, abnormal eye movements and @PHENOTYPICFEATURE$.	false
+3eeb4b181e3c2ddf1cd768fcd336bbe97b53e930	We report a ten-month old boy with @DISEASE$ who presented with global developmental delay, seizures, abnormal eye movements and @PHENOTYPICFEATURE$.	false
+3b9a2870ea98d295008a15c9e007a0f9b9f05990	Using adeno-associated virus, we permanently expressed ASPA in CNS neurons of the tremor rat, a genetic model of @DISEASE$, and examined the efficacy of the treatment by monitoring NAA metabolism, myelination, motor behavior, and @PHENOTYPICFEATURE$.	has_symptom
+328fab15bd69d7d344658d85119353eb2430b746	So far, the absence seizure models GAERS and WAG/Rij, audiogenic @PHENOTYPICFEATURE$ models GEPR-3 and GEPR-9, generalized tonic-clonic seizure models IER, NER and WER, and @DISEASE$ related epileptic models TRM and SER have been established.	has_symptom
+5a9c8a67b9e9daff80bdb490c20843abb779c56c	So far, the absence seizure models GAERS and WAG/Rij, audiogenic @DISEASE$ models GEPR-3 and GEPR-9, @PHENOTYPICFEATURE$ models IER, NER and WER, and Canavan-disease related epileptic models TRM and SER have been established.	false
+d655205575c3a8031b2fc60ed9cbbb8817bd588a	So far, the absence seizure models GAERS and WAG/Rij, audiogenic seizure models GEPR-3 and GEPR-9, @PHENOTYPICFEATURE$ models IER, NER and WER, and @DISEASE$ related epileptic models TRM and SER have been established.	false
+63fe2e15762034891ee952389cbcd63cd76b9596	So far, the @PHENOTYPICFEATURE$ models GAERS and WAG/Rij, audiogenic seizure models GEPR-3 and GEPR-9, generalized tonic-clonic seizure models IER, NER and WER, and @DISEASE$ related epileptic models TRM and SER have been established.	false
+51fb8d3c8cb3cdb49647e209c1e9c9bcc415726a	So far, the @PHENOTYPICFEATURE$ models GAERS and WAG/Rij, audiogenic @DISEASE$ models GEPR-3 and GEPR-9, generalized tonic-clonic seizure models IER, NER and WER, and Canavan-disease related epileptic models TRM and SER have been established.	false
+2abba2a288ec85ba66cfe11b283a25997e1a1570	@DISEASE$ is an early onset leukodystrophy associated with psychomotor retardation, @PHENOTYPICFEATURE$, and premature death.	has_symptom
+b67d4610f5213f3c5496f793578ccce0f77adb53	N-Acetylaspartic acid (NAA) accumulates in @DISEASE$, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, macrocephaly, and @PHENOTYPICFEATURE$.	has_symptom
+c56890e82c73dc5ca98c25c623bbbaf2641aba96	N-Acetylaspartic acid (NAA) accumulates in @DISEASE$, a severe inherited neurometabolic disorder clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly, and seizures.	false
+2c12a922cf6ac9bf2a02f30621fa544ac3f713bf	N-Acetylaspartic acid (NAA) accumulates in @DISEASE$, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, @PHENOTYPICFEATURE$, and seizures.	false
+89866d4aec602bd0f8648ffcb901cbec08150053	N-Acetylaspartic acid (NAA) accumulates in Canavan disease, a severe inherited neurometabolic disorder clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly, and @DISEASE$.	false
+7ea009c43131b593f88d4917970817cfa89a5d08	N-Acetylaspartic acid (NAA) accumulates in Canavan disease, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0983f6c092e048911e264e49fce777d81a6549a7	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the @DISEASE$: growth retardation, @PHENOTYPICFEATURE$, mental retardation, and a distinct hysmorphic pattern.	has_symptom
+58030fe0a75b95e6ec054a2269cbb9a3060403fb	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and a distinct hysmorphic pattern.	false
+b3dcb05c650db9129e028fa9d465da3763afd01e	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the @DISEASE$: @PHENOTYPICFEATURE$, microcephaly, mental retardation, and a distinct hysmorphic pattern.	false
+20700ad8c810e9ab582e07d4bada75174d29e5ef	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, and a distinct hysmorphic pattern.	false
+05fff8568cf35e94c5c20fd1fd75ba71b2a0c38b	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the @DISEASE$: growth retardation, microcephaly, @PHENOTYPICFEATURE$, and a distinct hysmorphic pattern.	false
+6cfc19a15dd4297a21e4293d434d8d8ec746c1dc	We provide the clinical details of two @PHENOTYPICFEATURE$ families with this specific FBN1 variant, which was previously associated with autosomal recessive @DISEASE$.	has_symptom
+5ceb565f7651db2dcc232e57d18f0ffafe642f0d	We provide the clinical details of two autosomal dominant families with this specific FBN1 variant, which was previously associated with @PHENOTYPICFEATURE$ @DISEASE$.	false
+9a9e6a02458de9b1fe706d89763b63ac0382dab5	We provide the clinical details of two @DISEASE$ families with this specific FBN1 variant, which was previously associated with @PHENOTYPICFEATURE$ Marfan syndrome.	false
+7de60d46868bc279e8e01f1ead3022ee3d90c749	@PHENOTYPICFEATURE$ @DISEASE$ caused by a previously reported recessive FBN1 variant.	has_symptom
+d1959b516d5334e36fae5fa2e8d946e90c230e85	Pathogenic variants in FBN1 cause @PHENOTYPICFEATURE$ Marfan syndrome but can also be found in patients presenting with apparently isolated features of @DISEASE$.	has_symptom
+4fa83725522a3a971c9962fd411e80bb804597d0	Pathogenic variants in FBN1 cause @PHENOTYPICFEATURE$ @DISEASE$ but can also be found in patients presenting with apparently isolated features of Marfan syndrome.	has_symptom
+e1dbc1952f8b9c5baead3f7ccef7f87bf2f1bd8c	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause @PHENOTYPICFEATURE$ @DISEASE$ characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.	has_symptom
+ae612b6ea77023ca12f56865d05ddc45121de748	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant @DISEASE$ characterized by a high degree of clinical variability and apparently isolated early @PHENOTYPICFEATURE$ familial abdominal aortic aneurysms.	false
+566007ca44925873087a447827c81c22edcaf56f	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause @DISEASE$ Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial @PHENOTYPICFEATURE$.	false
+500f2b876148f31e8e266d0e7d2a4ffe79664688	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant @DISEASE$ characterized by a high degree of clinical variability and apparently isolated early onset familial @PHENOTYPICFEATURE$.	false
+d8885773f5d0776f5fc9416638be34f18d8557af	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause @DISEASE$ Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early @PHENOTYPICFEATURE$ familial abdominal aortic aneurysms.	false
+d4983b9ac475f7f9aa69de46ae2f6a6a038f3eaf	In both families, the diagnosis of @PHENOTYPICFEATURE$ @DISEASE$ was established based on the characteristics of the variant and the phenotype which includes aortic aneurysms and dissections.	has_symptom
+a2fb49e2e2a0848d20b57d24292515cb6ecc37bf	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder of connective tissue caused by mutations in the gene encoding fibrillin-1 (FBN1), a matrix component of microfibrils.	has_symptom
+5768fa3d8b3537cb9116ae48ca974b1076dd8420	We report a 29-month-old girl with @DISEASE$ (OS-CS), who showed several unusual manifestations, including @PHENOTYPICFEATURE$, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge.	has_symptom
+31831d58d1ef4573776d8923d83d1d8d65ff5c92	We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including @DISEASE$, @PHENOTYPICFEATURE$, short lingual frenulum, an accessory ear and a granuloma at the oral edge.	false
+79fb7828c96187626c42392ffd6ca5eb73e14b76	We report a 29-month-old girl with @DISEASE$ (OS-CS), who showed several unusual manifestations, including short stature, @PHENOTYPICFEATURE$, short lingual frenulum, an accessory ear and a granuloma at the oral edge.	false
+cdf44cbcdb15493e75754bfd375b49c2a40e949b	We report two brothers with @DISEASE$ (HH), obesity and @PHENOTYPICFEATURE$ associated with a maternally inherited pericentric inversion (X)(p11.4q11.2).	has_symptom
+2512a6335dc835d0645d7b0139c6a7a90d83f662	We report two brothers with @DISEASE$ (HH), @PHENOTYPICFEATURE$ and short stature associated with a maternally inherited pericentric inversion (X)(p11.4q11.2).	false
+0211080a4634ea1f1d3a73281c764a98d3b9bb5d	We report two brothers with hypogonadotropic hypogonadism (HH), @PHENOTYPICFEATURE$ and @DISEASE$ associated with a maternally inherited pericentric inversion (X)(p11.4q11.2).	false
+092a369b2c41ed74b4c3edf9b4d4cd2298f6a46c	A 14-year-old boy presented with @PHENOTYPICFEATURE$ and delayed puberty and received a diagnosis of GH deficiency, central hypothyroidism, @DISEASE$, and secondary adrenal insufficiency.	has_symptom
+a54cc0ac55408a96f394708faa08bdae59356bcd	@PHENOTYPICFEATURE$ with a low body mass index and @DISEASE$ are the rule in these patients.	has_symptom
+b8d0cb5fb38cabf71135d1865485496ce0833eda	Prader-Willi syndrome (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, @PHENOTYPICFEATURE$, temperature instability, @DISEASE$, and neurosecretory growth hormone deficiency.	has_symptom
+75ba770b9f655e9d5920406744a625cffe58c857	Patients have @PHENOTYPICFEATURE$; boys have @DISEASE$ and girls have polycystic ovary syndrome (PCOS).	has_symptom
+e9ba82ed6b7574e7c0f26c2e0d0e82facce87d6a	The high reproducibility of this novel phenotype suggests that @DISEASE$ and @PHENOTYPICFEATURE$ are common findings in patients with mutations in NEUROG3.	has_symptom
+0c9cb752658cbffa3c9fa741e5801377f1d92de1	A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with @DISEASE$ showed @PHENOTYPICFEATURE$ and no development of secondary sex characteristics.	has_symptom
+20b28b8410edf5c12b247ede38b78ce267aac301	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and @DISEASE$.	has_symptom
+147f0802db593ffb4188e9c53e262dbc9b741102	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+2f00e5caad41f0aaba99890da02d55c259636eff	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+2c5b7003c61f3a86927222ecd450c56fd3352fd7	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+80911c3408cdf04f03aa3ebe0b9fa7bd4f9b8c54	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and @DISEASE$.	false
+5139116b19db4bfd1f7a156909360d0dbd3cbc76	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+ee27df68ebc19dea62a459eb9f3b193d43ad10f6	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and @DISEASE$.	false
+ce86aaa03b29705157f09e1095eea88b9c2577c5	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+e2ededd971d7ae83f00fa1fbd211c4f6e69c9c83	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @DISEASE$, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+aa0a1437771add1db4bba176d828d02a052f5f9d	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+78d2371697fd32cb6123d6fe214013250d895387	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+248273943e96264ae39f015a00e912716751bb15	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+f7f5d10c1d4948c7923c91cb33c714fee927ad4a	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, @DISEASE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+957d30bc33f72edf5b9b669b8417d0c251bbfd2a	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+4df77cbad2126f7b83c0f5107dd924235fe9aa38	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+c1219f0e0fdfc4436e8a7dde23e99ed82043f9a6	Other clinical findings in the @DISEASE$ (CGKD) patients are @PHENOTYPICFEATURE$, short stature, and hypogonadotropic hypogonadism.	false
+e4eaf800b7d7767ed92c7d78809526c72bd93a2a	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @PHENOTYPICFEATURE$, @DISEASE$, and hypogonadotropic hypogonadism.	false
+675ef6b5aa550ca00b6c1ab502fc2db39a5a7296	In the present study, 76% of subjects had some type of endocrine disorder: @PHENOTYPICFEATURE$ (72%), @DISEASE$ (60%), hypothyroidism (16%), and combined hypopituitarism (8%).	has_symptom
+ccc431b739ab96b215a795df453bbb6066b2c451	We experienced a 6-year-old girl diagnosed with mevalonate kinase deficiency (@DISEASE$) who had cholestasis, @PHENOTYPICFEATURE$, and elevated inflammatory markers in neonatal period.	has_symptom
+544f92661c22bd89c9342698a0702c9fe3c8ef58	We experienced a 6-year-old girl diagnosed with @DISEASE$ (MKD) who had cholestasis, @PHENOTYPICFEATURE$, and elevated inflammatory markers in neonatal period.	has_symptom
+ca5730ed9cffd0c9c00c256b1ce15865cf265695	Mutations in the L1CAM gene produce a phenotype characterised by @DISEASE$, mental retardation, spastic paraplegia, adducted thumbs, and @PHENOTYPICFEATURE$.	has_symptom
+3cd8a2aecc1032e9e09105ec5c988db31fdb8bbd	Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, @PHENOTYPICFEATURE$, spastic paraplegia, adducted thumbs, and @DISEASE$.	false
+6016497ea78fa815251e118b8dc2ad68aaa0f9f1	Mutations in the L1CAM gene produce a phenotype characterised by @DISEASE$, @PHENOTYPICFEATURE$, spastic paraplegia, adducted thumbs, and agenesis of the corpus callosum.	false
+3bdbf08cb9e80e694e0a98037bbcd3a43fe48066	Mutations in the L1CAM gene produce a phenotype characterised by X linked hydrocephalus, @PHENOTYPICFEATURE$, spastic @DISEASE$, adducted thumbs, and agenesis of the corpus callosum.	false
+eb363754125cb21612780cd54af4c2b8170bfdd3	Mutations in the L1 gene are associated with four related neurological disorders, @DISEASE$, spastic paraplegia (SPG1), MASA syndrome, and X-linked @PHENOTYPICFEATURE$.	has_symptom
+da62a274c6b41e8f523eb9556e6e897af8572d84	Neuropathological studies of @DISEASE$ (XLH) associated with L1 CAM mutations emphasize marked hypoplasia of the pyramidal tract, @PHENOTYPICFEATURE$ and septum pellucidum, and a thin cerebral mantle with hypoplastic white matter, but there are no detailed studies of the cerebral cortex in the literature.	has_symptom
+5e03e9cb7aa32a599d31a2e4f11120d6e25e37ff	Mutations in the L1 gene are responsible for four X linked neurological conditions: @DISEASE$ (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked @PHENOTYPICFEATURE$.	has_symptom
+36821a819420226caf223003e19de4ae7f7161f9	Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (@DISEASE$), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked @PHENOTYPICFEATURE$.	has_symptom
+38d8ba44ba85787d6d92658b7540e5515c6adf9d	We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (@DISEASE$), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked @PHENOTYPICFEATURE$ (ACC) are all due to mutations in the L1 gene.	has_symptom
+45f901b2ed497ad08e2050004b724c96e9220f01	We review here the evidence that several X-linked @PHENOTYPICFEATURE$ syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked @DISEASE$ (ACC) are all due to mutations in the L1 gene.	false
+4050c220b20e06d490a9e7919d41959c69affd1c	We review here the evidence that several X-linked mental retardation syndromes including X-linked @PHENOTYPICFEATURE$ (@DISEASE$), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene.	false
+d21d10116564f9bca76cfe48101627b220969727	We review here the evidence that several X-linked @PHENOTYPICFEATURE$ syndromes including X-linked hydrocephalus (@DISEASE$), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene.	false
+2012e7804b0cccd569ab41a9c98ce099326a96e4	We review here the evidence that several X-linked mental retardation syndromes including X-linked @PHENOTYPICFEATURE$ (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked @DISEASE$ (ACC) are all due to mutations in the L1 gene.	false
+8137ef4ddcf31a49dba97cd2f6bbd500b6df41cd	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (@PHENOTYPICFEATURE$, retardation, adducted thumbs, spasticity, and hydrocephalus syndrome, @DISEASE$) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	has_symptom
+bf56034ee79f37668f5bb888fc873bec39f28017	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, @PHENOTYPICFEATURE$, and hydrocephalus @DISEASE$, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+bace5588849845d269a00af52ef4a9cc160d967e	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, spasticity, and @PHENOTYPICFEATURE$ @DISEASE$, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+058c81607ffb3582535ebf843e4327f717c9017a	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (@DISEASE$, retardation, adducted thumbs, @PHENOTYPICFEATURE$, and hydrocephalus syndrome, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+5161f40e62eaaa339f968c4edbc8678b15db3485	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, @PHENOTYPICFEATURE$, and hydrocephalus syndrome, @DISEASE$) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+aba335aacff5ef29f17b83c44c1ae25204ba2b16	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (callosal agenesis, retardation, adducted thumbs, spasticity, and @PHENOTYPICFEATURE$ syndrome, @DISEASE$) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+02d5ac28bfb37fd221d7987c82eaaffeead50988	L1 cell adhesion molecule (L1CAM) gene plays a major role in the development of the white matter and its mutation in humans (@DISEASE$, retardation, adducted thumbs, spasticity, and @PHENOTYPICFEATURE$ syndrome, Bickers-Adams syndrome) or in mice causes similar defects of the corpus callosum, septum pellucidum, centrum semi-ovale, and cortico-spinal tracts.	false
+abf24b8f8af9694216ecba6a2c50c52245becdea	Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (@DISEASE$); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and @PHENOTYPICFEATURE$.	has_symptom
+ef57fdd9084ec1b97a29487d11088ea86a653810	Clinical phenotypes within L1 syndrome include X-linked @PHENOTYPICFEATURE$ with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic @DISEASE$ type 1; and agenesis of the corpus callosum.	false
+8665a42e9faf859fe5ca586049ffa2ccd11439ed	Clinical phenotypes within L1 syndrome include X-linked @PHENOTYPICFEATURE$ with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) @DISEASE$; spastic paraplegia type 1; and agenesis of the corpus callosum.	false
+6f6ef98fb6b2be25a9a9279670984b1cccfad586	Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic @DISEASE$ type 1; and agenesis of the corpus callosum.	false
+09ebebd62dd44fe93427f7965137cac1760e1c24	Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait, and aphasia (@DISEASE$) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum.	false
+d3158991964c8f96141419dcfcd7ed5e7b52aa98	Clinical phenotypes within L1 syndrome include X-linked @PHENOTYPICFEATURE$ with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (@DISEASE$) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum.	false
+20ec4c6d4dfae0ccb58b97e45103e431fd8c178d	Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (@DISEASE$); @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum.	false
+bc8a25299b3f9b8dcf82f6021ebf352315df8562	Clinical phenotypes within L1 syndrome include X-linked @PHENOTYPICFEATURE$ with stenosis of the aqueduct of sylvius (@DISEASE$); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum.	false
+c39ded7f6fe79830806c15cb9e2fadcd83be1a4e	Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and @DISEASE$.	false
+93a97bd0a3b8e49746ef9319ff0020c52513d001	Clinical phenotypes within L1 syndrome include X-linked @PHENOTYPICFEATURE$ with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and @DISEASE$.	false
+c597344261884c5dda858950964562cec75ec349	Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait, and aphasia (MASA) @DISEASE$; spastic paraplegia type 1; and agenesis of the corpus callosum.	false
+efa406e0f2a57391968b8c7593f1da9b73e4b072	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+77fa9813250a0c04ebbb38cc8a86daf0916eb648	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+52ccf998ace4ae7d5c6cbe03cd11b32f825fec66	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, @DISEASE$ and mental retardation.	false
+3a57681ef12ffee394a5a945d1ca5694785eeb72	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+033a46911d99e0e7bb4bd85f8e1b47c889bf6c89	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, spasticity, @DISEASE$ and mental retardation.	false
+6697a0ae55c9455cbe5131543283096a908ded56	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation.	false
+1ac0d62335f75025d191e35e85943f802a2a89f8	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and @PHENOTYPICFEATURE$.	false
+4c0039a02de716d94b89314c6162e04844389950	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+5f63ac9227afb05a5fdc1b94f7856c76e2822928	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+ac75e68b7ae21ea9930db78a5da0d4fc0171c98d	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	has_symptom
+1ed98d8fcbefc64f41f9c954f5dbc638d34149f1	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, @DISEASE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+94dc57650276c30a078a4584edafb0ee880f208a	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+7f158585e5ab7c0e8ab33febccb775880b42456d	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, @DISEASE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+1d308e3854b523aa891f663d057d6c82120ddb69	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, @DISEASE$, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+532550036bb9fb8ee9f18c4dfebc4492702378eb	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+2b8253282ac0085313e3016453ed4cd4d00705b4	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+957478ce4a4e6cdb8b5b26f721630ee67093fd90	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+edfaf372379442574cd53f6590ef0ea4b85e59de	@DISEASE$ is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+ade5ae286f500c86c205718d544f5b888ed76563	[@DISEASE$ or association of @PHENOTYPICFEATURE$ attacks, urticarial outbreaks and sensory deafness?].	has_symptom
+987fe80f52e09170a93fcbe38d3e736e7b021cab	[Muckle-Wells syndrome or association of @DISEASE$ attacks, urticarial outbreaks and sensory @PHENOTYPICFEATURE$?].	false
+5ae587c462e3eacd467d77568f5f378e8e7633e8	[@DISEASE$ or association of joint pain attacks, urticarial outbreaks and sensory @PHENOTYPICFEATURE$?].	false
+a7bc6340ea0f1df775c3ac63e27aeb3a3d4ab827	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as mental retardation, @PHENOTYPICFEATURE$, and other serious congenital anomalies (e.g., orofacial clefting and @DISEASE$)--a condition known as maternal PKU syndrome.	has_symptom
+d1b55446eb196409bcfe18b8f881b1ffc7e95f1e	Infants who are born to mothers with @DISEASE$ who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome.	false
+6dc032f9f213413ae5300e97584617dfcfa98e91	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and @DISEASE$)--a condition known as maternal PKU syndrome.	false
+39f9d34f927865aaacdac0c6c22c0526a2e0042a	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, @DISEASE$, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome.	false
+2636eb868330d4c527b87af9547bdcb9a20a2ab2	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious @DISEASE$ (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome.	false
+7e917eeab371c37f1b6ff124a15dcc7bd8478eb2	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU @DISEASE$.	false
+20a06d9cd6b7ba50f37687c4b6ff16389c09dc3c	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as @DISEASE$ syndrome.	false
+8f95a1cf9cea9badf6efc1f5755370fb85142873	The most prevalent symptoms are @PHENOTYPICFEATURE$, and two cases reported that tics as initial and prominent manifestation in @DISEASE$.	has_symptom
+75883fd0782b5cc316c9486ef64bc5e0133e9097	The 2 patients have many manifestations of the @DISEASE$ (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, @PHENOTYPICFEATURE$, and feeding problems in infancy.	has_symptom
+c6338386bf6341b3a01925ef21a8afe0aff781f1	The 2 patients have many manifestations of the Prader-Willi syndrome (PWS) including at least 5 of the following: @PHENOTYPICFEATURE$, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, @DISEASE$, and feeding problems in infancy.	false
+f0b3120fd4b8956ac2c3be4d760c52e45c4ad775	The 2 patients have many manifestations of the @DISEASE$ (PWS) including at least 5 of the following: @PHENOTYPICFEATURE$, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy.	false
+d72150fe801a151216bf6325396aef117af0c562	The 2 patients have many manifestations of the @DISEASE$ (PWS) including at least 5 of the following: obesity, compulsive eating, @PHENOTYPICFEATURE$, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy.	false
+03a44b40d31ff89f503b8999d500091aafc309e0	The 2 patients have many manifestations of the @DISEASE$ (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, @PHENOTYPICFEATURE$, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy.	false
+013f678b74de4412d3810e6b68db4344d2c69ca9	The 2 patients have many manifestations of the Prader-Willi syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, @PHENOTYPICFEATURE$, central hypotonia, hypogonadism, small hands and feet, @DISEASE$, and feeding problems in infancy.	false
+27c40acc7fb82ee29363dcfccecbb528faed954a	The 2 patients have many manifestations of the Prader-Willi syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, @PHENOTYPICFEATURE$, short stature, central hypotonia, hypogonadism, small hands and feet, @DISEASE$, and feeding problems in infancy.	false
+b8748694f2209a9ff3cfcf3f99828faa4d8a3adb	These findings indicate that patients with @DISEASE$ who have @PHENOTYPICFEATURE$ have a brain abnormality characterized by misrouting of retinal-ganglion fibers at the optic chiasm--a finding previously reported only in forms of albinism.	has_symptom
+ade2793805afb72756bafac21d49d33948ffa4ea	@DISEASE$ (PWS) is characterized by early childhood obesity, mental deficiency, hypogonadism, hypotonia, @PHENOTYPICFEATURE$, short stature, small hands and feet, and a characteristic face.	has_symptom
+bb93f79e52a217ac57a0e4affa5a70893df8a9e4	Prader-Willi syndrome (PWS) is characterized by early childhood @PHENOTYPICFEATURE$, mental deficiency, @DISEASE$, hypotonia, hypopigmentation, short stature, small hands and feet, and a characteristic face.	false
+186f0c1fcb7bbfee898e4e2f94cfe1207942752e	Prader-Willi syndrome (PWS) is characterized by early childhood obesity, mental deficiency, hypogonadism, hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, small hands and feet, and a characteristic face.	false
+5bb11a8935dcdbde46b1e15a62175c7dc36485dc	@DISEASE$ (PWS) is characterized by early childhood obesity, mental deficiency, hypogonadism, hypotonia, hypopigmentation, @PHENOTYPICFEATURE$, small hands and feet, and a characteristic face.	false
+10538093967a404bb59c555979e898ddbff0f18f	Prader-Willi syndrome (PWS) is characterized by early childhood obesity, @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, hypopigmentation, short stature, small hands and feet, and a characteristic face.	false
+ff41a59678cb77c694d078f4bec2dec5abfea010	@DISEASE$ (PWS) is characterized by early childhood obesity, @PHENOTYPICFEATURE$, hypogonadism, hypotonia, hypopigmentation, short stature, small hands and feet, and a characteristic face.	false
+ad2cded610183797dce2059380e406d12bf4cde6	Prader-Willi syndrome (PWS) is characterized by early childhood obesity, @PHENOTYPICFEATURE$, hypogonadism, hypotonia, @DISEASE$, short stature, small hands and feet, and a characteristic face.	false
+3a12a453787c7f404e60b0a77acd708f96196f67	Prader-Willi syndrome (PWS) is characterized by early childhood @PHENOTYPICFEATURE$, mental deficiency, hypogonadism, hypotonia, @DISEASE$, short stature, small hands and feet, and a characteristic face.	false
+3c00577288c00981bb94cc2da52f3d725980be8f	@DISEASE$ (PWS) is characterized by early childhood @PHENOTYPICFEATURE$, mental deficiency, hypogonadism, hypotonia, hypopigmentation, short stature, small hands and feet, and a characteristic face.	false
+59ca848eddba07a4738f6a2a3f2ae914e08d8629	Prader-Willi syndrome (PWS) is characterized by early childhood obesity, mental deficiency, @DISEASE$, hypotonia, hypopigmentation, @PHENOTYPICFEATURE$, small hands and feet, and a characteristic face.	false
+87f7cd1cdb3a50de9da770baa8ff807fcfa6f532	Patients with @DISEASE$ (PWS) due to maternal uniparental disomy of the chromosome 15 (UPD15) have fewer facial features, less @PHENOTYPICFEATURE$ and higher levels of psychosis compared to subjects with deletion in chromosome 15 (del15q11-q13).	has_symptom
+06ea99a8e79b1a7d7402008d8cbd1c4baede9610	@DISEASE$ was suspected because of hypotonia, @PHENOTYPICFEATURE$, and undescended testes when he was a newborn infant.	has_symptom
+bdb69d8d158e92d88e0dd8239c4218ac5e847dd4	Association of the pink-eye-dilution gene (P) with @PHENOTYPICFEATURE$ is seen in patients who have oculocutaneous albinism type 2 (OCA2) and @DISEASE$ (PWS) or Angelman syndrome (AS).	has_symptom
+d422b043b465634f932e633f7f4347a954ffa978	Association of the pink-eye-dilution gene (P) with @DISEASE$ is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and Prader-Willi syndrome (PWS) or Angelman syndrome (AS).	false
+787c673ca67f2b278e951e18fdde652fd0997461	Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and @DISEASE$ (PWS) or Angelman syndrome (AS).	false
+090ba07e6632d573236d519985d99e6fe8b2a44e	Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and Prader-Willi syndrome (PWS) or @DISEASE$ (AS).	false
+3fe4c0a6232535fb5b5c41462ae1d415e6a122d7	The proposed prenatal seasonal @PHENOTYPICFEATURE$ effect might be relevant to dyslexia, @DISEASE$, breast cancer, Alzheimer's and Parkinson's disease.	has_symptom
+27f55e850be7d8a0c5f66cd0b27d6ef2f9b19e17	Abnormalities of the central visual pathways in @DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+ce86a4000da055f002f8e57780727e83bceecfe0	In order to determine the frequency and characterization of @PHENOTYPICFEATURE$ in @DISEASE$ (PLWS), clinical, cytogenetic and biochemical findings are reported in 56 PLWS individuals.	has_symptom
+46dcc947de438c38c6a81850ebe81f321622b2f0	Because patients with the @DISEASE$ may also have @PHENOTYPICFEATURE$ and strabismus, we wondered whether they too might have misrouting of optic fibers.	has_symptom
+1a84ca74e673ac5e05b33c4133e752279393d25d	@DISEASE$ is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and @PHENOTYPICFEATURE$.	has_symptom
+9aea278487925e86beef5084690a4aa0aadb40b0	Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have @PHENOTYPICFEATURE$, brachymedia, abnormal ears, @DISEASE$, and mental retardation.	false
+5c713825004440b0e128e21f4feb95211dbacdf5	Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have @PHENOTYPICFEATURE$, brachymedia, abnormal ears, cleft lip and palate, and @DISEASE$.	false
+b7d0debc5e5c9723b0b861e3cd69c8f1d293d7e5	Peters'-Plus syndrome is a disorder in which patients with @DISEASE$ are also found to have @PHENOTYPICFEATURE$, brachymedia, abnormal ears, cleft lip and palate, and mental retardation.	false
+fe2ce7f2a5bcc059eeeef021a2e9bd6f7d15dd41	@DISEASE$ is a disorder in which patients with Peters' anomaly are also found to have @PHENOTYPICFEATURE$, brachymedia, abnormal ears, cleft lip and palate, and mental retardation.	false
+994aef14b72539d9266b1ac9568f276d5baae20a	@DISEASE$ (PpS) is characterized by the typical ocular anomalies of Peters syndrome in association with impaired growth, @PHENOTYPICFEATURE$ and other malformations.	has_symptom
+37bbddc410a7c603055fa9003834fcbb68ca5943	The presence of a Peters' anomaly, @PHENOTYPICFEATURE$, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of @DISEASE$.	has_symptom
+ad3f38fac6a0baa990768f92507604c8b048d8f9	The presence of a @DISEASE$, mental retardation, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+2f68dfb76696b54253a3825fbec226a3ffd8102b	The presence of a Peters' anomaly, mental retardation, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of @DISEASE$.	false
+4b34a4ad68e71670b62f50b100af0f568e72ab23	The presence of a Peters' anomaly, @DISEASE$, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+ebf73976478b7830010dd566f6f4b38dc9dcd5bc	The presence of a @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+231304285ad22a938525047ca40da972149e8a17	The presence of a Peters' anomaly, mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities and distinctive facial features (broad forehead, @DISEASE$, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+2857554962d25c24f3de50a340f2799d293ee0f7	The presence of a Peters' anomaly, @DISEASE$, @PHENOTYPICFEATURE$, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+0c19286e1b1cad274a4ed4dae0140220a87311d8	The presence of a Peters' anomaly, mental retardation, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, @DISEASE$, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+65feb411ed4c4ae88b8361c90454ef302682d50c	The presence of a Peters' anomaly, mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of @DISEASE$.	false
+b1325cb681206760d1964ecbeddbf87344d18b3b	Manifestations of @DISEASE$ include Peters' anomaly, short stature, small hands, @PHENOTYPICFEATURE$, abnormal ears and cleft lip and palate.	has_symptom
+b4d6300f05ccebcb2d9cd6e9d62d070d0662795b	Manifestations of Peters'-Plus syndrome include Peters' anomaly, @PHENOTYPICFEATURE$, small hands, mental retardation, abnormal ears and @DISEASE$.	false
+4083760b987d8d9f7f9c570ca1c04c551b8e4cc3	Manifestations of Peters'-Plus syndrome include Peters' anomaly, @PHENOTYPICFEATURE$, small hands, @DISEASE$, abnormal ears and cleft lip and palate.	false
+108c61275f9cf20377d3a51d48e4a86127324738	Manifestations of @DISEASE$ include Peters' anomaly, @PHENOTYPICFEATURE$, small hands, mental retardation, abnormal ears and cleft lip and palate.	false
+7573ba49c5c68254637d48d42043577ed871bf28	Manifestations of Peters'-Plus syndrome include @DISEASE$, @PHENOTYPICFEATURE$, small hands, mental retardation, abnormal ears and cleft lip and palate.	false
+7c9077709e06021ba48c8caa4f0869ec300ed0bb	Here we report a case of a six-year-old boy with paternally-inherited @DISEASE$ caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and @PHENOTYPICFEATURE$ before dying at age 6.	has_symptom
+f1751637aa1c23f9a0079bc029e07c8c7b9d7935	@PHENOTYPICFEATURE$ are common in JHD, and chorea is uncommon; movement disorders at presentation of @DISEASE$ are predominantly nonchoreiform.	has_symptom
+83e2c4530c236ffa42b18da70a3e8ae60bd25383	@PHENOTYPICFEATURE$ are common in @DISEASE$, and chorea is uncommon; movement disorders at presentation of JHD are predominantly nonchoreiform.	has_symptom
+55d52da0f60bae24fc32d3c32a7c6ffef55faa46	Rigidity, dystonia, and @PHENOTYPICFEATURE$ are more common in @DISEASE$.	has_symptom
+861aa07eccbec843c7705d5362afbd0bbc75b0db	Juvenile Huntington's disease (@DISEASE$) is mostly characterized by rigidity, myoclonus, bradykinesia, dystonia and @PHENOTYPICFEATURE$.	has_symptom
+b6c39e4847b7a6931e900cf2e398173fd62a6f69	The early-onset form, @DISEASE$, is clinically different from that of more common adult-onset forms and includes cognitive decline, parkinsonism, myoclonus, and @PHENOTYPICFEATURE$.	has_symptom
+753a3a146a04be8a74c3e93b28a81fb4ef10b362	The primary aim of this study was to characterize the @PHENOTYPICFEATURE$ in juvenile HD (@DISEASE$) subjects with regard to frequency, semiology, defining EEG characteristics, and response to antiepileptic agents.	has_symptom
+6369c09dfe3a106f23da2b22a4dd8237cc1fb76d	Clarifying the relation between LCA and associated neurological abnormalities such as autism, @PHENOTYPICFEATURE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	has_symptom
+8f028559a056ac380f8ba37a96348f49c06cfa03	Clarifying the relation between LCA and associated neurological abnormalities such as autism, @PHENOTYPICFEATURE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	has_symptom
+76e8c92113cbbdd5a687159a788289b345f95c35	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, @DISEASE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+1a7fa5a5facaf4fe355550cbc0c6f3e9ffcb9fd4	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+e5b351aa565e59ee85b7d19fac4536d097cdb86a	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+cf68146e731bb55b00aca496fc1835809aadfb14	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, @DISEASE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+503fa1c7944b230fa5fb6b00ea73fcc02bf99345	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	false
+6f172068f92815bc9dc33111caf4a792a4d1a9d4	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+b2ee2ab0fbdc6d72668a1150a6f180676a491c91	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+22f725bc76bd186148d9eb4cd7cfa71bfcdde7b4	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+c50d4a59f71db9bd684e133d6542f5d01875d3ca	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+f6e60b3c5836c43dcd81d899242704df8b43c051	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	false
+d870122bff04a15649c67beaf4e90f3f5eb68243	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+f7ad5d6d835a9fae9f9493a49c174995774692fc	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+6af69820d1644c506db4c094c68dbdf12795844e	Uncrossed @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+10cdd5f5062e8b8453d74153dd027471aef4a2a6	@PHENOTYPICFEATURE$ are the most common neurological complications of @DISEASE$, but its neurological sequelae are poorly described because Joubert syndrome is very rare.	has_symptom
+e2d31aef09443728da94555bafff57f8949e12d7	Genotype-phenotype correlation in CC2D2A-related @DISEASE$ reveals an association with ventriculomegaly and @PHENOTYPICFEATURE$.	has_symptom
+79996f3c7981d1d9b5ee98557a9e314ce11bd5aa	They include CNS manifestations of chromosomal change; forebrain patterning defects; disorders of the brain size; cell migration and specification disorders; cerebellum, hindbrain and spinal patterning defects; @PHENOTYPICFEATURE$; secondary malformations and destructive pathologies; vascular malformations; @DISEASE$ and infectious diseases.	has_symptom
+5786ad81f51b93d9a652ecb6407c691145d417d6	Although both @DISEASE$ and @PHENOTYPICFEATURE$ may also occur spontaneously in patients with vestibular schwanomma, the incidence is higher after stereotactic radiosurgery.	has_symptom
+fce93b409c8f23e254d9938761046231e3dc97dc	@DISEASE$ associated with the @PHENOTYPICFEATURE$ were treated with a ventriculoperitoneal shunt.	has_symptom
+c8a61676ab66e767029732c1d63ffc83c1b585b1	Our patient was a 27-year-old woman with a history of tachypnea, @PHENOTYPICFEATURE$, and psychomotor retardation shortly after birth and a diagnosis of @DISEASE$ at 2 years of age.	has_symptom
+99749aacfe035d7d4cce23d2e1e84f1f31a8db34	@DISEASE$ (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, @PHENOTYPICFEATURE$, an irregular breathing pattern in the neonatal period and abnormal eye movements.	has_symptom
+9bd033217a5c6efd7c0bf0716d14920e3f6397f7	Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, @DISEASE$, an irregular breathing pattern in the neonatal period and @PHENOTYPICFEATURE$.	false
+0ca1ea1d1e260eeef64319c735cb7ff9a176ee49	@DISEASE$ (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, @PHENOTYPICFEATURE$, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal eye movements.	false
+d7d34e9ba80ea6a44dcbcfb40869e4ab7f1f7058	Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, @PHENOTYPICFEATURE$, @DISEASE$, an irregular breathing pattern in the neonatal period and abnormal eye movements.	false
+08f1b35a56cf0b556196e2b11e0b48d6e4119721	@DISEASE$ (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and @PHENOTYPICFEATURE$.	false
+329092cc8714b8d6047ddd83c97130f0599e03d5	Corneal Dystrophy and Perceptive Deafness (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	has_symptom
+83e0aedeb5f017ac4734ae3f6369fb5bd1d34143	Corneal Dystrophy and Perceptive Deafness (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital @PHENOTYPICFEATURE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	has_symptom
+b1fc3e305c3d2910be3e495e69663e777134deb8	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital @DISEASE$ and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+f49d77310bf810a17b8b02c27187786bdd4a0953	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or Harboyan syndrome is an autosomal recessive @DISEASE$ disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+ac136e2a24be5456ef9218604b7510f50f1bec29	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+d54b6e786dd8c4f0f95b0d9da097c0d1c7c52bc1	@DISEASE$ and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	false
+6dcdccf53c5b58246cbb2696700bfce8b7c9112b	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+81a8cfa8ba1f8fc440a0e8f76daecb50bdb8c1e6	Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital @DISEASE$ and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	false
+7579be1e15bc09ccbfdbce3a4ccc925a2d04ee1a	Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive @DISEASE$ disorder, characterized by congenital corneal opacities and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	false
+dda167cef8b60d4d002066b6b6acadf94a29b3f5	Corneal Dystrophy and Perceptive Deafness (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	false
+7f7cf6147fd3cdf0cbd174d864d6ecc402fe9306	@DISEASE$ and Perceptive @PHENOTYPICFEATURE$ (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+f6e5eb27ed792181fed998fbf2a21540e0599edb	Corneal Dystrophy and Perceptive Deafness (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive @PHENOTYPICFEATURE$, which usually begins after the second decades of life.	false
+7a02da5bc50d924354d94a062c7748da9c3f3a21	@DISEASE$ consists of autosomal dominant @PHENOTYPICFEATURE$, lip, and teeth, and the etiology remains unknown.	has_symptom
+ab9d46d4dad39179fb18b693e19631735caa2af4	Molar tooth sign with @PHENOTYPICFEATURE$ and see-saw nystagmus (@DISEASE$).	has_symptom
+a2a15bbf3c9eb5b9ff93cf2b4c382c684eeb93c0	@DISEASE$ (JS) is an inherited disorder characterized by transient episodic hyperpnea, @PHENOTYPICFEATURE$, and vermian hypoplasia.	has_symptom
+42060288ab34b669ce1956956a5e8bdce2f13ab2	The features of @DISEASE$ include hypotonia, @PHENOTYPICFEATURE$, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements.	has_symptom
+8de90fe575f74016cb8a5a5cb1df66782994199a	The features of Joubert syndrome include hypotonia, @DISEASE$, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+3bffc7f424a7a25ea96060c1ec41b93db1a98879	The features of @DISEASE$ include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+fdb4b9cd2564fa96e917a37be1f6bd661ce11abb	Patients with @DISEASE$ have @PHENOTYPICFEATURE$, pigmentary retinopathy, and nephronophthisis.	has_symptom
+5982e0b41aab30555bd29db6213db074e70eb530	@DISEASE$) where @PHENOTYPICFEATURE$ is a cardinal feature and others where ataxia is only an occasional symptom.	has_symptom
+c693b61be5d54f0ef4a02212c798a0b36de630ec	@DISEASE$) where ataxia is a cardinal feature and others where @PHENOTYPICFEATURE$ is only an occasional symptom.	has_symptom
+10f4cb18bf72b1c6acf1adaaf3dda49849228d88	@DISEASE$: episodic hyperpnea, abnormal eye movements, retardation and @PHENOTYPICFEATURE$, associated with dysplasia of the cerebellar vermis.	has_symptom
+cb8893a02a709ed7bba987c287b8fa5fbda54b0a	@DISEASE$: episodic hyperpnea, @PHENOTYPICFEATURE$, retardation and ataxia, associated with dysplasia of the cerebellar vermis.	false
+764abc23745ae6efda0cdb4df848afdefe5aab29	Joubert syndrome: episodic hyperpnea, @PHENOTYPICFEATURE$, retardation and @DISEASE$, associated with dysplasia of the cerebellar vermis.	false
+45aa34e5cd50061e2b2d5267af5646a3c85013f5	The @DISEASE$ is characterized by hypotonia, @PHENOTYPICFEATURE$, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment.	has_symptom
+0757e6f8896e313772f593d6c61faa8fef0d0027	The Joubert syndrome is characterized by hypotonia, @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, irregular breathing pattern and cognitive impairment.	false
+d4a478fbb4e600635bf4c76aa74397c29dea35da	The Joubert syndrome is characterized by hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, abnormal eye movement, irregular breathing pattern and cognitive impairment.	false
+a36ad099439aaa9673fe6aeb67516613f06e12a9	The @DISEASE$ is characterized by hypotonia, ataxia, @PHENOTYPICFEATURE$, abnormal eye movement, irregular breathing pattern and cognitive impairment.	false
+ee74b26b98b2285bbdedf7b32e863087c2d1a9ab	The @DISEASE$ is characterized by hypotonia, ataxia, facial dysmorphism, @PHENOTYPICFEATURE$, irregular breathing pattern and cognitive impairment.	false
+19c94975d3e29972a30f2800f7916504d917b393	@DISEASE$: congenital @PHENOTYPICFEATURE$ with the molar tooth.	has_symptom
+e74fe06699d09ef10792157554d22f6aaf1dca0f	The clinical presentation of children with @DISEASE$ can include nonspecific features such as hypotonia, @PHENOTYPICFEATURE$, and developmental delay.	has_symptom
+d89dd1e79554a6688b9afd05585f2541872447a6	Teaching NeuroImages: Molar tooth sign with hypotonia, @PHENOTYPICFEATURE$, and nystagmus (@DISEASE$) and hypothyroidism.	has_symptom
+f3dd3c98ec1ae729ed6e017e5dce36354a45e824	Ocular findings in @DISEASE$ include reduced visual acuity; congenital nystagmus, strabismus and @PHENOTYPICFEATURE$.	has_symptom
+619a99982116d9896c32968cabc880eebd0ce2ff	Ocular findings in HPS include @PHENOTYPICFEATURE$; congenital nystagmus, strabismus and @DISEASE$.	false
+47e7ad8320a8c446da20f4d57210d6d2940663c4	Ocular findings in @DISEASE$ include @PHENOTYPICFEATURE$; congenital nystagmus, strabismus and cataract.	false
+fdc00ab223767cd62c9a49f3b8706158102029e7	Classic symptoms of @DISEASE$, like fever, hemoptysis, and @PHENOTYPICFEATURE$, were uncommon.	has_symptom
+f587c1c59e6003e91e7c943affae3d9c146d2d3f	Classic symptoms of tuberculosis, like @PHENOTYPICFEATURE$, hemoptysis, and @DISEASE$, were uncommon.	false
+1c0f268046da3c7fbd290560a6df510bc332fcad	Classic symptoms of @DISEASE$, like @PHENOTYPICFEATURE$, hemoptysis, and weight loss, were uncommon.	false
+cc5a65e83131f464f32903b7de4d284b727f2c35	Sarcoidosis, lymphoma and @DISEASE$ can often present with similar clinical features - for example, lymphadenopathy, fever, malaise, @PHENOTYPICFEATURE$, respiratory symptoms, hypercalcaemia - making the establishment of the diagnosis difficult.	has_symptom
+d3ec3f32d0434eef818325c757ec1ae70fcbd962	Sarcoidosis, lymphoma and tuberculosis can often present with similar clinical features - for example, lymphadenopathy, @PHENOTYPICFEATURE$, malaise, @DISEASE$, respiratory symptoms, hypercalcaemia - making the establishment of the diagnosis difficult.	false
+691c72475a88d4c04378a56065f42fa00682451d	Sarcoidosis, @DISEASE$ and tuberculosis can often present with similar clinical features - for example, lymphadenopathy, @PHENOTYPICFEATURE$, malaise, weight loss, respiratory symptoms, hypercalcaemia - making the establishment of the diagnosis difficult.	false
+9bd079af711687940b31acaeb70aaaf583d6e79c	Sarcoidosis, lymphoma and @DISEASE$ can often present with similar clinical features - for example, lymphadenopathy, @PHENOTYPICFEATURE$, malaise, weight loss, respiratory symptoms, hypercalcaemia - making the establishment of the diagnosis difficult.	false
+023c7a7e76bd9a1537c72d954a0e2630e9b0c34d	@DISEASE$ in such patients frequently presents as extrapulmonary or disseminated disease, and clinicians should be vigilant for tuberculosis in any patient taking anti-TNF therapy who develops fever, @PHENOTYPICFEATURE$, or cough.	has_symptom
+2cc4e194c6cd1224b7085597e7b104cc8b6d237e	Tuberculosis in such patients frequently presents as extrapulmonary or disseminated disease, and clinicians should be vigilant for @DISEASE$ in any patient taking anti-TNF therapy who develops fever, @PHENOTYPICFEATURE$, or cough.	has_symptom
+e2369278177b6cbc1fc19ebd95501d26eef4f80b	Though no pathognomonic symptoms or syndrome occur in enteric @DISEASE$, this disease should be included in the differential diagnosis of patients with vague abdominal complaints, @PHENOTYPICFEATURE$, and anorexia.	has_symptom
+9785d27f1cdb4169c37b2e40f98c4bc42c931745	@DISEASE$ is characterized by fever, @PHENOTYPICFEATURE$, a prolonged acute-phase protein response and granuloma formation.	has_symptom
+ea5765d9b41bc7ff6c8f41a458d4506c9f410735	Tuberculosis is characterized by @PHENOTYPICFEATURE$, @DISEASE$, a prolonged acute-phase protein response and granuloma formation.	false
+cc2931794c5c2aa36f6779516f0ef155fc616fbc	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, weight loss, a prolonged acute-phase protein response and granuloma formation.	false
+c9f8978755b5e65f85461572fe72a7a8288cdc75	An uncommon disseminated Mycobacterium @DISEASE$ infection is described in a 12-year-old female dog presenting with fever, dyspnea, cough, @PHENOTYPICFEATURE$, lymphadenopathy, melena, epistaxis, and emesis.	has_symptom
+bdd8b5ee6e7595729536951cc4f9555b14a4155f	An uncommon disseminated Mycobacterium tuberculosis @DISEASE$ is described in a 12-year-old female dog presenting with @PHENOTYPICFEATURE$, dyspnea, cough, weight loss, lymphadenopathy, melena, epistaxis, and emesis.	false
+747e73eecfd0535b20ce5c67f4a56e7fa4321ee8	An uncommon disseminated Mycobacterium tuberculosis infection is described in a 12-year-old female dog presenting with @PHENOTYPICFEATURE$, dyspnea, cough, @DISEASE$, lymphadenopathy, melena, epistaxis, and emesis.	false
+330ee0ef906bf590b4200874c12aceaf13dac59a	An uncommon disseminated Mycobacterium @DISEASE$ infection is described in a 12-year-old female dog presenting with @PHENOTYPICFEATURE$, dyspnea, cough, weight loss, lymphadenopathy, melena, epistaxis, and emesis.	false
+65a2a817b66d599ec2d8011ead9bc951ff833cea	Nephrologists should remember that nonspecific presentation of @DISEASE$ including fever, @PHENOTYPICFEATURE$, and adenopathy are more common in dialysis patients than in the general population, and diagnosis may require biopsy of extrapulmonary tissue.	has_symptom
+8bff7c89018ab02f36c2cbf92de2a1c55dd1e701	Tuberculous peritonitis was suspected in a 33-year-old man, without significant past medical history or risk factor for @DISEASE$, who presented with constitutional manifestations including fatigue and @PHENOTYPICFEATURE$, fever for several weeks and inflammatory ascites.	has_symptom
+13f06e37c3bad89f2aedd2db81351575a4b2c757	Symptoms of spinal @DISEASE$ are back pain, weakness, @PHENOTYPICFEATURE$, fever, fatigue, and malaise.	has_symptom
+2be3e806556c93ccf2155abdfb0e9ab909061966	Symptoms of spinal @DISEASE$ are back pain, weakness, weight loss, @PHENOTYPICFEATURE$, fatigue, and malaise.	false
+6a1e6dd770bcfe8114f25a36b84744a64dec9670	Symptoms of spinal tuberculosis are back pain, weakness, @DISEASE$, @PHENOTYPICFEATURE$, fatigue, and malaise.	false
+236781d8c4dbaff5fc9f958c96e3598715affcbc	But the common presenting symptoms of @DISEASE$ like fever, cough, @PHENOTYPICFEATURE$, fatigue, and night sweats are not always associated with tuberculosis lymphadenopathy, thereby, making its diagnosis difficult.	has_symptom
+c9b8f5e3f2b2b8935c2ff2c159d852f837ead3c8	But the common presenting symptoms of tuberculosis like fever, cough, @PHENOTYPICFEATURE$, fatigue, and night sweats are not always associated with @DISEASE$ lymphadenopathy, thereby, making its diagnosis difficult.	has_symptom
+792782789a5651e9cbe712ec6c21fe0e2e2e1f5e	But the common presenting symptoms of tuberculosis like @PHENOTYPICFEATURE$, cough, @DISEASE$, fatigue, and night sweats are not always associated with tuberculosis lymphadenopathy, thereby, making its diagnosis difficult.	false
+b0d6675f253e753ac9fedb5533838ca8d35b9920	But the common presenting symptoms of tuberculosis like @PHENOTYPICFEATURE$, cough, weight loss, fatigue, and night sweats are not always associated with @DISEASE$ lymphadenopathy, thereby, making its diagnosis difficult.	false
+a6a22cc3ccb2653d8a0ee22c4a2719ac0be2ddb2	But the common presenting symptoms of @DISEASE$ like @PHENOTYPICFEATURE$, cough, weight loss, fatigue, and night sweats are not always associated with tuberculosis lymphadenopathy, thereby, making its diagnosis difficult.	false
+799a9a5d43122054538143e18b24332d6ac6b232	@DISEASE$ with @PHENOTYPICFEATURE$, hypomyelination, and cerebral atrophy.	has_symptom
+a923aa44259eaf6f9d126e43b24d2899c2428d34	Cockayne syndrome with @DISEASE$, hypomyelination, and @PHENOTYPICFEATURE$.	false
+17ebd24f827e484d890e68c11dd6f5b82dff1815	@DISEASE$ with intracranial calcification, hypomyelination, and @PHENOTYPICFEATURE$.	false
+ec2e71df7028d1c11e789b7f20f64bce58542c1c	Teaching NeuroImages: @DISEASE$ with extensive @PHENOTYPICFEATURE$.	has_symptom
+5f676083b9f81c0d8f76acb4f996965c116d7c13	@DISEASE$ (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, @PHENOTYPICFEATURE$, and white matter abnormalities.	has_symptom
+ce3db0aeb99a63fe5b67f738ff7a2e666685718f	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	has_symptom
+c85343ebad03ade69e9127b7179cc0fb8b7d735d	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+dbe2143d2bc9805d07bac4088546d9bbf2ea0f5b	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+7fe53f1a3bee4d1a7a7fe1090e36eb61529af53a	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce39e0ad682d339253435e8222161018c5b7c39d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2ac2a9c39f597da74c00319cb7fabef720db2146	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+500ff6126cd74bd5b9951f1fb877f76cfd360f15	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+f59e31d80ff5cb34b8c01b50ebc614e5bd99c953	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, @DISEASE$, hypogonadism, and growth retardation.	false
+e577047cfc349c0d037680387ea922ca2bc9559d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2ecf8b4c99fe1f2e5ff81d8a2abba5f79261fcab	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+42415993a14e8e679004594d6975b5be6401e637	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+4b43ba8b7d387b870facda0c613c0a6671220503	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @DISEASE$, hypogonadism, and @PHENOTYPICFEATURE$.	false
+0e38076c251718c464600bc02f244bb4f84d5007	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+d0e254a92b3c5146f536e87caf3b7d1a7369d6f1	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0113f5a1dc4887245f2d966cf2e28efa78096d81	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+f68e13015fd03a5d1b689bc9b00fc6bb1bee18c0	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+83f855fa25df5a507916aa2f551510e95c6bd5da	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @DISEASE$, hypogonadism, and growth retardation.	false
+27372a659199f7cea6075fd2d6f29d7ec073f702	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @DISEASE$, hypogonadism, and growth retardation.	false
+1d2636a215fee336acfdb1ffc095a31a0f41c09c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+5d7282380109e9f688512aafe1b9eeae82dd6d4b	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, @DISEASE$, hypogonadism, and growth retardation.	false
+e705e023d42cfbee9431a28f7260a0013159327d	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+605eda68e75e074ed183d334321e6a5d58bbcb3e	Cockayne syndrome is an @DISEASE$, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0f5523d9a91eeaa1fdf79147ab01d1457f32dc31	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e4039a657fde1aca44cadf380d4b9ed8ca3dbdab	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+f3424ccbf088cf29c47e97bd150a6be43fd99642	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, @DISEASE$, hypogonadism, and growth retardation.	false
+8f94c82c3eca3911ed232dfa07d88d41fcfea60e	@DISEASE$ (or hyperimmunoglobulinemia E syndrome) is a rare genetic disease characterized by skin @PHENOTYPICFEATURE$, pyogenic "cold" abscesses, sinopulmonary recidivous infections and high IgE plasma concentrations.	has_symptom
+efd7fe40b220d57ad1f09c48553104f63dc9e426	@DISEASE$ (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, @PHENOTYPICFEATURE$ skin, recurrent cutaneous infections, and distinctive musculoskeletal features.	has_symptom
+cef8386ded4aaba5996643084c2d1441c08f61c3	@DISEASE$ (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+ec05c2b9758e11de033b631c7298b0acf62ab8da	Hyperimmunoglobulin E syndrome (HIES) is a rare @DISEASE$ associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+30ba491fc0aa93a0335a8d798a9102663bde4d3b	Hyperimmunoglobulin E syndrome (@DISEASE$) is a rare immunodeficiency associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+21dde0b8346bff378a9acbb6836cbd0a99488cad	Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, @DISEASE$ skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+c132701c8fd5f2adfa1c25129fbe2809267aa8f0	Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (@DISEASE$), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and @PHENOTYPICFEATURE$.	has_symptom
+8638ec377b8df4347b8d261166a1925fffbd4479	Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (@DISEASE$) accompanied by progressive, postlingual @PHENOTYPICFEATURE$.	has_symptom
+c5dbbbfd1994cf2b6e3da8688bc22c8020b98d3e	Associated disorders in our cohort included @DISEASE$ (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz @PHENOTYPICFEATURE$.	has_symptom
+72b8b69f2297d9cf019d8635e2117ff22009a101	In reviewing eight cases of children with the Pierre Robin syndrome, we found three cases to have abnormalities of the extremities such as @PHENOTYPICFEATURE$, hypoplastic digits, and a @DISEASE$.	has_symptom
+03333f1a235e18de70554c547e2a719191acb4b5	@DISEASE$ is a unique unilateral chest/hand deficiency that may include rib defects, pectoral muscle deficit, and @PHENOTYPICFEATURE$.	has_symptom
+822c05c3a176adf9b3cb007e46294d943a44b640	@DISEASE$ is characterized by unilateral aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle and ipsilateral @PHENOTYPICFEATURE$.	has_symptom
+e99315a94c20a92f1f86bd0e8366e0dd60c65bbe	In addition, there was microdactyly, @PHENOTYPICFEATURE$ of the left hand, absence of the pectoralis major, of the mammary gland and nipple adding up to @DISEASE$.	has_symptom
+f21e09321ba96bb08c429b7c63c4b72e73f27b2c	@DISEASE$ is characterized by partial or complete absence of pectoralis muscles, ipsilateral @PHENOTYPICFEATURE$, and occasionally other malformations of the anterior chest wall and breast.	has_symptom
+716d10ac2230adb2dd3686484052eee79f5cdc64	The @DISEASE$ was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, @PHENOTYPICFEATURE$ and brachydactyly) and only partial in the second (absence of pectoralis major).	has_symptom
+42a6a0e8e53e048287c7cdc3d680fdced8552cf8	The @DISEASE$ was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, syndactyly and @PHENOTYPICFEATURE$) and only partial in the second (absence of pectoralis major).	false
+45a5a1b5ceca6df67b9b35c8c85e026d461327bf	The Poland anomaly was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, @DISEASE$ and @PHENOTYPICFEATURE$) and only partial in the second (absence of pectoralis major).	false
+1d7a0c62eef70ba88a506c07285fea24d519ed8e	@DISEASE$ is a rare anomaly characterized by unilateral absence of the pectoral muscles and ipsilateral @PHENOTYPICFEATURE$ and microdactyly.	has_symptom
+f3c2f6ec292825c2dc5d55ebfaa00d53c52c9d38	Classical @DISEASE$ is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple @PHENOTYPICFEATURE$ and brachydactyly.	has_symptom
+3f7830b71cabab57eb0a66b448c95a4a05a31b56	Classical @DISEASE$ is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple syndactyly and @PHENOTYPICFEATURE$.	false
+82a5ff0afef050d5e9b136a8d205beff35495d2b	Classical Poland syndrome is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2fbef07ed378ec986905cd55ba4d08c80fc1732d	Unilateral defect of pectoral muscle and ipsilateral @PHENOTYPICFEATURE$ constitute @DISEASE$.	has_symptom
+c844c07d9a871d18c55b40e7cbc0640c7c4a9366	@DISEASE$: just a @PHENOTYPICFEATURE$?	has_symptom
+c345c03da1722872d95201024f0e247cdc244667	@DISEASE$ (CTS) is a common focal @PHENOTYPICFEATURE$.	has_symptom
+68b3a8b43ab4bc02e62b796070e797598dfd8dfc	@DISEASE$ (CTS) is the commonest @PHENOTYPICFEATURE$ in the UK.	has_symptom
+50920e057d361707749826dab9215949deb088ed	@DISEASE$ (CTS) is the most common @PHENOTYPICFEATURE$.	has_symptom
+7f8cbfbbc0cb4f1bc2c271fb0f66aa11e5c13e1e	@DISEASE$ (CTS) is a common work-related @PHENOTYPICFEATURE$.	has_symptom
+7ccb6f7760fb65876395d4d8b07365911fb0c2e0	@DISEASE$ (CTS) is a common @PHENOTYPICFEATURE$ and ischemic-reperfusion injury.	has_symptom
+7097e4490112396c107542bf272ad6afc17f26bb	@DISEASE$ is the most common @PHENOTYPICFEATURE$.	has_symptom
+3d13096b9ac0bc136b577516b1858ec3e21df6b7	@DISEASE$), @PHENOTYPICFEATURE$, or occasionally from cervical cord compression.	has_symptom
+01488c2cd3435d7bdb72b3c58dd651767fcd127e	@DISEASE$ is a common and costly @PHENOTYPICFEATURE$.	has_symptom
+50920e057d361707749826dab9215949deb088ed	@DISEASE$ (CTS) is the most common @PHENOTYPICFEATURE$.	has_symptom
+e6d9860a9d23e57898d860ba9e97b38612de5203	@DISEASE$: unilateral hypoplastic pectoralis major with @PHENOTYPICFEATURE$.	has_symptom
+42a6a0e8e53e048287c7cdc3d680fdced8552cf8	The @DISEASE$ was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, syndactyly and @PHENOTYPICFEATURE$) and only partial in the second (absence of pectoralis major).	has_symptom
+59b83201ec78d9f0471e32d526078f8e9913f01a	The Poland anomaly was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, @PHENOTYPICFEATURE$ and @DISEASE$) and only partial in the second (absence of pectoralis major).	false
+716d10ac2230adb2dd3686484052eee79f5cdc64	The @DISEASE$ was total in the first case (absence of pectoralis major, hypoplasia of the right superior limb, @PHENOTYPICFEATURE$ and brachydactyly) and only partial in the second (absence of pectoralis major).	false
+3f7830b71cabab57eb0a66b448c95a4a05a31b56	Classical @DISEASE$ is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple syndactyly and @PHENOTYPICFEATURE$.	has_symptom
+f3c2f6ec292825c2dc5d55ebfaa00d53c52c9d38	Classical @DISEASE$ is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple @PHENOTYPICFEATURE$ and brachydactyly.	false
+2d6194d3038aaffacb2f7034c6be7ae1a043d66c	Classical Poland syndrome is represented by unilateral aplasia of the sternocostal head of the pectoralis major muscle and ipsilateral simple @PHENOTYPICFEATURE$ and @DISEASE$.	false
+57e3999c8fcec5d7a401d6a270f1e55f716468fc	@DISEASE$ is a rare congenital anomaly characterized by the partial or complete absence of pectoral muscles, varying thoracic deformities, and @PHENOTYPICFEATURE$.	has_symptom
+5f9fb929fba4251b86a1f66c95cd4860803a13d4	@DISEASE$ is managed by early correction of the @PHENOTYPICFEATURE$ and later correction of the chest wall deformity if necessary for psychologic or functional reasons.	has_symptom
+23aa7f7f6ac7e3e57afebc2b8c70e2da3b92dbd4	Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with @DISEASE$, a common malformation characterized by unilateral @PHENOTYPICFEATURE$ and ipsilateral aplasia of the inferior head of the pectoralis major muscle.	has_symptom
+7246cb27d28dff859bce396983089239ead7d9b7	In addition to the thoracic defect, @DISEASE$ can be associated with @PHENOTYPICFEATURE$, dextrocardia, renal agenesia, and various tumors.	has_symptom
+7fe79a6c1531503903b6e2118b04872fb94bae2f	In addition to the thoracic defect, @DISEASE$ can be associated with hand anomalies, dextrocardia, renal agenesia, and various @PHENOTYPICFEATURE$.	false
+9a496e94e48d62991808024c066d25aa89640533	In addition to the thoracic defect, Poland syndrome can be associated with hand anomalies, dextrocardia, @DISEASE$, and various @PHENOTYPICFEATURE$.	false
+c8fba64422663e3a09761d13c68fba09718bad1f	In addition to the thoracic defect, Poland syndrome can be associated with @DISEASE$, dextrocardia, renal agenesia, and various @PHENOTYPICFEATURE$.	false
+2a3a48066c34f7973707652d084c3ae38ce64d36	@DISEASE$ is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral @PHENOTYPICFEATURE$ and can include a spectrum of anomalies from a complete absence of the pectoralis major and minor, amastia, severe rib abnormalities, and absence of the hand, to minor hand abnormalities and isolated pectoralis minor aplasia.	has_symptom
+a4cc781a7d581ac308e2be0d03c4a0576b923d9c	The @DISEASE$ is a rare autosomal dominant disorder characterized by the absence of several teeth and @PHENOTYPICFEATURE$.	has_symptom
+babf57ba718aed42bfcac5dec01c267fd58d6c33	This case report presents the orthodontic treatment of a patient with @DISEASE$, an autosomal dominant genetic disorder characterized by the absence of several teeth and @PHENOTYPICFEATURE$.	has_symptom
+925ff25a8a2c378fe6139edfb049062bfb293efe	The patient was diagnosed with @DISEASE$ (TTP) on the basis of thrombocytopenia, MAHA, renal dysfunction, fever, and @PHENOTYPICFEATURE$.	has_symptom
+347513e1c1b249b815040750b24092b2080a56e2	The patient was diagnosed with thrombotic thrombocytopenic purpura (TTP) on the basis of @DISEASE$, MAHA, renal dysfunction, @PHENOTYPICFEATURE$, and neurological abnormalities.	false
+8b4eaa6c8fa21ed7d76bf10f63f045ba66d6da32	The patient was diagnosed with thrombotic thrombocytopenic purpura (TTP) on the basis of thrombocytopenia, MAHA, renal dysfunction, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ee4e64e6498d48407e49f4112aacf90049149bf2	The patient was diagnosed with @DISEASE$ (TTP) on the basis of thrombocytopenia, MAHA, renal dysfunction, @PHENOTYPICFEATURE$, and neurological abnormalities.	false
+66bc1af4f36a987ba8e57ef7547eff1532c57434	In view of microangiopathic haemolytic anaemia, fever, renal insufficiency, @PHENOTYPICFEATURE$ and thrombocytopenia, the patient was presumed to have developed @DISEASE$ (TTP).	has_symptom
+da93b4fab76bd3b5bb6915b14e6a8b408a30e75c	In view of microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal insufficiency, neurological abnormality and @DISEASE$, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+ed059108018a01ea096e3b6c6d63df77aa19bd32	In view of microangiopathic haemolytic @DISEASE$, @PHENOTYPICFEATURE$, renal insufficiency, neurological abnormality and thrombocytopenia, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+562e74cae6707c614fc4dcda856d323d22ec7795	In view of microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal insufficiency, neurological abnormality and thrombocytopenia, the patient was presumed to have developed @DISEASE$ (TTP).	false
+182547afddb7159e61199a6feb36969d31b2b81f	In view of microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal insufficiency, @DISEASE$ and thrombocytopenia, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+1433d0b2599ba0792c286389b160a1b2313aaf77	In view of microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, @DISEASE$, neurological abnormality and thrombocytopenia, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+9dcda94906bed23719da855e4bfb577e02f22085	In a 57-year-old female patient, who was admitted with fluctuating central @PHENOTYPICFEATURE$ and generalized purpura, was made the diagnosis of a @DISEASE$ (TTP, Moschcowitz' syndrome).	has_symptom
+b74a777202f0b57654adab2103f5f1b2ef418405	The clinical syndrome of fever, @PHENOTYPICFEATURE$, renal impairment with laboratory findings of thrombocytopenic and microangiopathic hemolytic anemia is seen in @DISEASE$ (TTP) and a variety of disorders associated with thrombotic microangiopathy (TMA).	has_symptom
+7a3969d9c6c900247775feb132eaae478e7dc64d	Duchenne muscular dystrophy (DMD), @DISEASE$ (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	has_symptom
+7ee55a980b043df1d2e7864ad3b2cb97a06ac843	@DISEASE$ (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+7dea670f3a10761329108c0fb4501631bede3e8c	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, @DISEASE$, or stupor.	false
+8b2721ccd5daabc899a703be6fa9663b6cc24c99	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and @DISEASE$ (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+9a767d1087d708addc2b317de3a35da618b39edb	Duchenne muscular dystrophy (DMD), @DISEASE$ (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+f36485c3cf7cc530d1e53da3b98fdaf57c5b9431	Duchenne muscular dystrophy (@DISEASE$), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+a99fbf73f3b37e018e98190718858290ece1c15d	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (@DISEASE$) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+d6aab2003bd49c6406eddb15bbdf2c01b3d1a231	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and @DISEASE$.	has_symptom
+ddf115d40e7565af3c625bf336f712a436f09a8a	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, @DISEASE$, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+eedff739caac93f20fba4fd14faac8b3ee146124	All patients had @PHENOTYPICFEATURE$ or muscle weakness, @DISEASE$, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+9cddc236dd92c385b777689b7a578d22174c2011	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+23cd9afdcd8bcbb889a64b4b38bd1b0427ad68b4	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+09c6839c355bfd6617316240bc1fcf036afeaecb	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+1413bf80f174191dfa24e249ad92ce54755d63ab	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+a064a48b2e686a91e4126db4cf5b8080f2f01862	During the investigation of three brothers with a contiguous gene deletion syndrome of Becker muscular dystrophy, @DISEASE$, congenital adrenal hypoplasia, and @PHENOTYPICFEATURE$, we found their dystrophin gene to be fused tail-to-tail with a gene encoding a novel member of the interleukin-1 receptor family, IL1RAPL1.	has_symptom
+645671e969fa51098b92b377c5154e7d9c00149a	AHC can be associated with @DISEASE$, Duchenne muscular dystrophy and @PHENOTYPICFEATURE$ (MR), as part of a contiguous gene deletion syndrome.	has_symptom
+6dd2bbe94cc4b8d2fdb1bc9375b85dc051d8bf8c	We have analyzed one patient with a syndrome of @DISEASE$ (GKD), adrenal hypoplasia (AH), @PHENOTYPICFEATURE$ (MR) and hypogonadotropic hypogonadism (HH).	has_symptom
+64d577e624722d6b466d905ae1f5c9a24c6bff79	We have analyzed one patient with a syndrome of @DISEASE$ (GKD), adrenal hypoplasia (AH), mental retardation (MR) and @PHENOTYPICFEATURE$ (HH).	false
+c4e618c217040d67a799541d1c6386c52b04bc04	We have analyzed one patient with a syndrome of glycerol kinase deficiency (GKD), adrenal hypoplasia (AH), @DISEASE$ (MR) and @PHENOTYPICFEATURE$ (HH).	false
+dee3612d5b67a7d21b5a3adfc0fb965544823121	It is caused by partial deletion of Xp21, which includes the genes responsible for @DISEASE$, congenital adrenal hypoplasia, Duchenne muscular dystrophy and @PHENOTYPICFEATURE$.	has_symptom
+93fcfdf7dab63467c207c22094b44525b632720f	A syndrome of Duchenne muscular dystrophy (DMD), adrenal hypoplasia, @DISEASE$, and @PHENOTYPICFEATURE$ has been recognised.	has_symptom
+b87d62f63451dd16a4a0871187a631e30d45efba	The genetic study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, the @DISEASE$, the congenital adrenal hypoplasia (gene DAX1) and @PHENOTYPICFEATURE$ (gene IL1RAPL1).	has_symptom
+8c0b198d9908a48aab99661f43d167f2b4678857	In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, @DISEASE$, Duchenne muscular dystrophy, and @PHENOTYPICFEATURE$, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients.	has_symptom
+8f8fbbdfef744cdda2ec34bd297b8297161e8d83	@DISEASE$ (PN) is a rare inherited disorder characterized by poikiloderma, facial dysmorphism, pachyonychia, @PHENOTYPICFEATURE$ and neutropenia.	has_symptom
+4eee732b2cde53a5a4906c163b1a734803be2662	Poikiloderma with neutropenia (PN) is a rare inherited disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, pachyonychia, short stature and @DISEASE$.	false
+8683cb9733381011879a1c72a685f3b7564d2e2b	Poikiloderma with neutropenia (PN) is a rare inherited disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, pachyonychia, @DISEASE$ and neutropenia.	false
+9553bd06e8f13b38abe29fbae2001b2004cc1175	@DISEASE$ (PN) is a rare inherited disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, pachyonychia, short stature and neutropenia.	false
+1a127de0edfc1830d06e0ae6654f604ba13fa96b	Echocardiographic examination showed a @PHENOTYPICFEATURE$ (interventricular communication), the whole suggestive of @DISEASE$.	has_symptom
+3c0e61e0bc1974253b2cc21b298655bd2f8aba76	Intracranial calcification, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named @DISEASE$.	has_symptom
+3d16d59c8793e813f05f3e4e949bcc608fba590e	@PHENOTYPICFEATURE$, periosteal proliferation and microcephaly, which represent the clinical features of the @DISEASE$, can also be seen in a rare disorder named Raine syndrome.	false
+db836d4b6d563225c8d80a103f805479320a6319	@PHENOTYPICFEATURE$, periosteal proliferation and microcephaly, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named @DISEASE$.	false
+573504041c4be6796c7611cd76942bfe0d9a71ee	@PHENOTYPICFEATURE$, periosteal proliferation and @DISEASE$, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named Raine syndrome.	false
+732c9ebe1d6905c9012dbbf64fa8d05196237a09	@PHENOTYPICFEATURE$, periosteal proliferation and microcephaly, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder @DISEASE$ Raine syndrome.	false
+e049495dc07eb020585f7de7c72081b8034c4901	@DISEASE$ (UAKD) is a hereditary progressive renal disease which can lead to @PHENOTYPICFEATURE$ and requires renal replacement therapy.	has_symptom
+67885e3dede0022fa29dde83e0e92b59a8b7a075	Mutations in the gene UMOD encoding uromodulin lead to rare autosomal dominant diseases, collectively referred to as @DISEASE$, that are characterized by progressive tubulo-interstitial damage, impaired urinary concentrating ability, hyperuricemia, and progressive @PHENOTYPICFEATURE$.	has_symptom
+a11504f4e64af07344abbb955a8ad9beffb54622	@DISEASE$ results in hyperuricemia and @PHENOTYPICFEATURE$.	has_symptom
+2208a1cd7e2fe32b1e4593b44815f432fb817862	@DISEASE$ results in @PHENOTYPICFEATURE$ and renal failure.	false
+ce675fd8e0ccae357d41c14ab011caff7b5978f8	Uromodulin associated kidney disease results in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4cd0702e796e273ab4ae8a8fff48fbb9fed4fbc3	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as @DISEASE$ (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, hyperuricaemia and gout, and progressive @PHENOTYPICFEATURE$.	has_symptom
+5f52cd5d196ecd0e598c699e26ebbe5f795bc400	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as @DISEASE$ (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, @PHENOTYPICFEATURE$ and gout, and progressive renal failure.	false
+8f25f590e966be137c5b88d23d715f9f55469e09	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as uromodulin-associated kidney diseases (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, @PHENOTYPICFEATURE$ and gout, and progressive @DISEASE$.	false
+88ad96faab85f5ba3f622ae1773ee77850085ce4	A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant @DISEASE$, now referred to as uromodulin-associated kidney diseases (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, @PHENOTYPICFEATURE$ and gout, and progressive renal failure.	false
+a99fbf73f3b37e018e98190718858290ece1c15d	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (@DISEASE$) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	has_symptom
+8b2721ccd5daabc899a703be6fa9663b6cc24c99	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and @DISEASE$ (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	has_symptom
+7a3969d9c6c900247775feb132eaae478e7dc64d	Duchenne muscular dystrophy (DMD), @DISEASE$ (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	false
+efc4c35e3b2d7ab68bd3c4051cf2ee39646b5398	Duchenne muscular dystrophy (@DISEASE$), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	false
+7fe824ea477334c2b78416ad1610006f42c84473	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and @DISEASE$ (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	false
+eeaab57f9475b3656deed68ef86e3fc8643f72e3	@DISEASE$ (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	false
+759ab997e5a3beee179d925f2760e5c648a1c818	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @DISEASE$, acidemia, @PHENOTYPICFEATURE$, or stupor.	false
+fccd0396c45f96908fa38de1b4e620577875ae98	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (@DISEASE$) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, @PHENOTYPICFEATURE$, or stupor.	false
+0c49adaac1168e0b0225217d2a157b8b544096e2	Homozygous @DISEASE$ causes progressive neurodegenerative disease, @PHENOTYPICFEATURE$, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ferritin, or movement disorders, but its heterozygous state is less characterized and believed to be silent.	has_symptom
+d176cbbff5ffeed8f69142efbd24234674efb601	Homozygous aceruloplasminemia causes progressive neurodegenerative disease, @DISEASE$, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ferritin, or @PHENOTYPICFEATURE$, but its heterozygous state is less characterized and believed to be silent.	false
+64960bd6c63a9c4bca54873bea878088116a6147	Homozygous aceruloplasminemia causes progressive neurodegenerative disease, anemia, and diabetes, and is usually diagnosed late in life upon investigation of @DISEASE$, high ferritin, or @PHENOTYPICFEATURE$, but its heterozygous state is less characterized and believed to be silent.	false
+7fd7bd8925625b3b51294015fb8e7ebfbce12566	Homozygous aceruloplasminemia causes progressive @DISEASE$, anemia, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ferritin, or @PHENOTYPICFEATURE$, but its heterozygous state is less characterized and believed to be silent.	false
+39a23afd1d9c11c28b55a48e9c8155ac33901363	Homozygous @DISEASE$ causes progressive neurodegenerative disease, anemia, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ferritin, or @PHENOTYPICFEATURE$, but its heterozygous state is less characterized and believed to be silent.	false
+ec7397d6c68c043e287b5db17c67979d80e2586b	Homozygous aceruloplasminemia causes progressive neurodegenerative disease, anemia, and @DISEASE$, and is usually diagnosed late in life upon investigation of anemia, high ferritin, or @PHENOTYPICFEATURE$, but its heterozygous state is less characterized and believed to be silent.	false
+43d688e9341cf9c3acb68ddb058fb5356da66abc	Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause @DISEASE$ (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile @PHENOTYPICFEATURE$.	has_symptom
+c10ed916317e1b80d880d4e640093c28cc1f18e2	Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause @DISEASE$ (cerebral, ocular, dental, auricular, and @PHENOTYPICFEATURE$), a systemic disease that can include infantile cataract.	false
+dd616683ffcfb33d7bd287080f4ba2e5efb30934	Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and @PHENOTYPICFEATURE$), a systemic disease that can include infantile @DISEASE$.	false
+9e9f11e79908f311f6b009c2b084bcfbb0f67c59	Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and @PHENOTYPICFEATURE$), a @DISEASE$ that can include infantile cataract.	false
+748a2489d04caa59d5b18931546a73b62807da0a	Adult-onset Still's disease (@DISEASE$) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, arthralgia or @PHENOTYPICFEATURE$, lymphadenopathy, hepatosplenomegaly, sore throat and serositis.	has_symptom
+7a6c18a3529371b80bcd5626238d2704b3ed7d9b	Adult-onset Still's disease (@DISEASE$) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, @PHENOTYPICFEATURE$ or arthritis, lymphadenopathy, hepatosplenomegaly, sore throat and serositis.	false
+44bac035d9d52b289ecd7ed9433bd583b1d451a2	Adult-onset Still's disease (AOSD) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, @PHENOTYPICFEATURE$ or arthritis, lymphadenopathy, hepatosplenomegaly, sore throat and @DISEASE$.	false
+cca83868f2419dcb3e548d3c560017909a87999d	Adult-onset Still's disease (AOSD) is a rare disorder of unknown aetiology, characterised by high spiking fever, an evanescent, erythematous, maculopapular rash, @PHENOTYPICFEATURE$ or @DISEASE$, lymphadenopathy, hepatosplenomegaly, sore throat and serositis.	false
+1276598839ebc691773b2060bb6e1afe4ef67db3	The clinical symptoms of @DISEASE$ are a spiking fever, a typical rash, arthralgia or @PHENOTYPICFEATURE$, sore throat, lymphadenopathy, and splenomegaly.	has_symptom
+47c1f571f41267d656b5ef9beaa14815fcf5db65	The clinical symptoms of AOSD are a spiking fever, a typical rash, @PHENOTYPICFEATURE$ or @DISEASE$, sore throat, lymphadenopathy, and splenomegaly.	false
+4de575d6569ee265428a517e2967bafa60f27cf6	The clinical symptoms of @DISEASE$ are a spiking fever, a typical rash, @PHENOTYPICFEATURE$ or arthritis, sore throat, lymphadenopathy, and splenomegaly.	false
+f00d229cd03d9cffdd60920145f503f305b4d601	Adult-onset Still's disease (@DISEASE$) is a rare systemic inflammatory disorder of unknown etiology characterized by spiking fever, @PHENOTYPICFEATURE$ or arthralgia, rash, and leukocytosis.	has_symptom
+cd96436f7f64eba716ad0a28692a70d56a82d999	Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder of unknown etiology characterized by spiking fever, @DISEASE$ or @PHENOTYPICFEATURE$, rash, and leukocytosis.	false
+c65f9f9dc656ce081e47b2d810b8c5b4cf9a3923	Adult-onset Still's disease (@DISEASE$) is a rare systemic inflammatory disorder of unknown etiology characterized by spiking fever, arthritis or @PHENOTYPICFEATURE$, rash, and leukocytosis.	false
+2ed6caa6192d7e37bfdaa452b94a292774c8c91a	Adult-onset Still's disease (AOSD) is a rare systemic @DISEASE$ of unknown etiology characterized by spiking fever, arthritis or @PHENOTYPICFEATURE$, rash, and leukocytosis.	false
+82c605f583eb12a7cf4236c15c9aa017c70ccca3	Adult onset Still's disease (@DISEASE$) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, arthralgia or @PHENOTYPICFEATURE$, involvement of various organs, and predominantly neutrophilic leucocytosis.	has_symptom
+318b0fa7858aea223d2d4dd281139daa4e04bce7	Adult onset Still's disease (AOSD) is a systemic @DISEASE$ of unknown etiology characterized by spiking fever, evanescent skin rash, @PHENOTYPICFEATURE$ or arthritis, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+57ea0ad2ca0c26d563008d10ca60491fe5317822	Adult onset Still's disease (@DISEASE$) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, @PHENOTYPICFEATURE$ or arthritis, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+91a545e42832e04032149d0f5ab4fba391e25ac8	Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent skin rash, @PHENOTYPICFEATURE$ or @DISEASE$, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+35d91e7f5990de0cd9a5f8294df92e2925887eb6	Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology characterized by spiking fever, evanescent @DISEASE$, @PHENOTYPICFEATURE$ or arthritis, involvement of various organs, and predominantly neutrophilic leucocytosis.	false
+85c0886fa80d5b86322f3982097018e984fa85b4	It is also efficacious in the treatment of patients with @DISEASE$ and systemic juvenile @PHENOTYPICFEATURE$.	has_symptom
+4770d8f662a7d33d022af3e3737e074cb70274aa	We describe a newborn female with infantile-onset @PHENOTYPICFEATURE$ and nonspecific mild dysmorphisms who underwent extensive genetic workup that resulted in the detection of a novel homozygous mutation (c.302+1_4delGTGA) in the HSD17B4 gene, consistent with a diagnosis of @DISEASE$.	has_symptom
+5849fa7ce409e02253a531db544b384f7e1addee	A 58-year-old man, previously diagnosed with @DISEASE$, presented with a short history of @PHENOTYPICFEATURE$, diarrhea and weakness.	has_symptom
+098b3a5a325f3e9641c03f3a40cd4a36be1e15c6	It is important to distinguish between different types of hyponatremia: euvolemic hyponatremia causing syndrome of inappropriate antidiuretic hormone secretion(SIADH) also known as Schwartz-@DISEASE$, hypervolemic hyponatremia (cardiac failure and liver cirrhosis) and hypovolemic hyponatremia (diarrhoea, @PHENOTYPICFEATURE$ or other gastrointestinal fluid losses).	has_symptom
+90b4f63d17860dfc90cc94934515201ec0164c2a	It is important to distinguish between different types of hyponatremia: euvolemic hyponatremia causing syndrome of inappropriate antidiuretic hormone secretion(SIADH) also known as Schwartz-Bartter syndrome, hypervolemic hyponatremia (@PHENOTYPICFEATURE$ and liver @DISEASE$) and hypovolemic hyponatremia (diarrhoea, vomiting or other gastrointestinal fluid losses).	false
+743a8ee49695ec335adbc50fe8b458d16bf7d572	It is important to distinguish between different types of hyponatremia: euvolemic hyponatremia causing syndrome of inappropriate antidiuretic hormone secretion(SIADH) also known as Schwartz-Bartter syndrome, hypervolemic hyponatremia (@PHENOTYPICFEATURE$ and liver cirrhosis) and hypovolemic hyponatremia (@DISEASE$, vomiting or other gastrointestinal fluid losses).	false
+faa6497caae9863d4ad94af485e1e5ce949fe299	It is important to distinguish between different types of hyponatremia: euvolemic hyponatremia causing syndrome of inappropriate antidiuretic hormone secretion(SIADH) also known as Schwartz-Bartter syndrome, hypervolemic hyponatremia (@PHENOTYPICFEATURE$ and liver cirrhosis) and hypovolemic hyponatremia (diarrhoea, @DISEASE$ or other gastrointestinal fluid losses).	false
+488ad943c02181a88119677a76d163a44093ee85	It is important to distinguish between different types of hyponatremia: euvolemic hyponatremia causing syndrome of inappropriate antidiuretic hormone secretion(SIADH) also known as Schwartz-@DISEASE$, hypervolemic hyponatremia (@PHENOTYPICFEATURE$ and liver cirrhosis) and hypovolemic hyponatremia (diarrhoea, vomiting or other gastrointestinal fluid losses).	false
+6f01ef3e3c7afeae2ff30b772a768cf065a72ca0	Hyperprostaglandin E syndrome/antenatal @DISEASE$ is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, @PHENOTYPICFEATURE$, diarrhea, and failure to thrive.	has_symptom
+a2ad395e30979d34293b98ed38ade70ddf001d04	Hyperprostaglandin E syndrome/antenatal Bartter syndrome is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, @DISEASE$, diarrhea, and @PHENOTYPICFEATURE$.	false
+582483547d604761491a92a6ae83ddb25945b70b	Hyperprostaglandin E syndrome/antenatal @DISEASE$ is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, vomiting, diarrhea, and @PHENOTYPICFEATURE$.	false
+eef4ca10abfa4b4ea6f7f4c94af4d2049fd042b7	Hyperprostaglandin E syndrome/antenatal Bartter syndrome is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, vomiting, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+43389757f88d9f0d79b99fb2a8100c10fa0e7238	Antenatal @DISEASE$ presenting with @PHENOTYPICFEATURE$ and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.	has_symptom
+61ebd53aab6edb1da49f93b49d126814c822e35f	The infantile form of @DISEASE$ (also known as infantile Batten disease) is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1), and is characterized by severe cortical degeneration with @PHENOTYPICFEATURE$ and cognitive and motor dysfunction.	has_symptom
+03ef7f520e3c3ec822795cd5b53988689b512944	To describe the anesthetic management of a patient with Jansky-Bielschowsky disease (JBD), the late infantile form of @DISEASE$, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and @PHENOTYPICFEATURE$.	has_symptom
+986ceb1a696038fe5504c1ee6ff8804fbd8a5a9e	We then use these correlates to elucidate the nature of sleep deficits in a naturally occurring ovine model of @DISEASE$ (NCL, Batten disease) caused by a mutation in CLN5 In humans, mutations in this gene lead to cortical atrophy and @PHENOTYPICFEATURE$, as well as sleep abnormalities.	has_symptom
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+1e62f834f3fdd1cb0b921e5750ca11537ffb02e5	Organ-specific autoantibodies associated with @PHENOTYPICFEATURE$, adrenal and gonadal failures, IDDM, hepatitis and vitiligo are discussed, and autoantibody patterns in APS1 patients are compared with autoantibodies in @DISEASE$ (APS2).	has_symptom
+786258a6446de6c64c32294512e2e91382fc50b7	@DISEASE$ is a multisystem disorder with albinism, bleeding diathesis and @PHENOTYPICFEATURE$ as the main features.	has_symptom
+e044eb3dfebe2e8694a23be3cc5103c6dd3d3ae3	@DISEASE$ is a multisystem disorder with @PHENOTYPICFEATURE$, bleeding diathesis and visual impairment as the main features.	false
+e60d4734ef70bacd8044d29dc6120cc9192ada42	Hermansky-Pudlak syndrome is a multisystem disorder with @PHENOTYPICFEATURE$, bleeding diathesis and @DISEASE$ as the main features.	false
+4fa09a0ad24b7a3e9e9526c0f1724a761469e255	Hermansky-Pudlak syndrome is a @DISEASE$ with @PHENOTYPICFEATURE$, bleeding diathesis and visual impairment as the main features.	false
+b4345517427b3b0132182d9b9865b80e067b12f1	This report draws attention to inflammatory nodules (representing ruptured folliculitis), cysts, and recurrent infections on the scalp as manifestations of @DISEASE$ and reviews the increasingly recognized risk of follicular @PHENOTYPICFEATURE$ and squamous-cell carcinomas in patients with this conditions.	has_symptom
+5be51ff179a6648e29ecbd260483dec0c4b578f5	@DISEASE$ (Alagille's syndrome) is presumed to be one of the familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or @PHENOTYPICFEATURE$, or both.	has_symptom
+b9533c0cda01b3d4917edbb258396e6797ba74cd	Between 1984 and 1997, among 444 pediatric liver transplant recipients, 17 had liver transplantation for @DISEASE$ (mean age 3.5 years, range 1.2-13 years), mainly because of poor quality of life with intractable pruritus, and @PHENOTYPICFEATURE$.	has_symptom
+6d02178b9d61cc79a9d57d1b9cf5a23fcd22fe1d	@DISEASE$ (AHD, Alagille's syndrome) is presumed to be one of the six known familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or @PHENOTYPICFEATURE$, or both.	has_symptom
+173c3c07a0285dd0bc60e8420e1f1f3125e7c4aa	We conclude that @DISEASE$ patients have a specific growth pattern characterized by initial @PHENOTYPICFEATURE$, a late growth spurt and complete catch-up in final height.	has_symptom
+8e24e9ef77c701048707ff8c4a5f2b00283dffa4	Glucose storage disease type IXa (@DISEASE$) is an uncommon condition presenting with childhood onset hepatomegaly, @PHENOTYPICFEATURE$, and often, fasting ketosis and hypoglycemia.	has_symptom
+b858bc81b5f8fd77b7da6776544ade05c1554def	Glucose storage disease type IXa (@DISEASE$) is an uncommon condition presenting with childhood onset @PHENOTYPICFEATURE$, growth retardation, and often, fasting ketosis and hypoglycemia.	false
+c5b39e0e4ca4f257118a6f214c100ab46d67e2b0	Glucose storage disease type IXa (GSD IXa) is an uncommon condition presenting with childhood onset @PHENOTYPICFEATURE$, growth retardation, and often, fasting ketosis and @DISEASE$.	false
+62033f2d362d8637134b62a2766f0642a409e4a6	Glucose storage disease type IXa (GSD IXa) is an uncommon condition presenting with childhood onset @PHENOTYPICFEATURE$, @DISEASE$, and often, fasting ketosis and hypoglycemia.	false
+73a20bffcb8d4734542d8cfcfd9c03e3153f00ff	We present a 10-month-old boy who presented with @PHENOTYPICFEATURE$, abdominal distention and hepatomegaly and who was finally diagnosed with @DISEASE$.	has_symptom
+e900c9d96028208591c40fdb02e8f12fd7e79a98	Semirhythmic myoclonus is common in patients with @DISEASE$ caused by UBE3A mutations, and such @PHENOTYPICFEATURE$ events are often life disabling.	has_symptom
+7aaaecc890825d43b27eb9de1993ded9f755e757	Amniocentesis in rats is associated with different malformations, such as @PHENOTYPICFEATURE$ and limb deformation, resembling the human congenital amniotic band syndrome (@DISEASE$).	has_symptom
+8c88a9385c7ec89a8fabdef9d3ce81f02783866b	X-linked CHARGE-like @DISEASE$ and classic @PHENOTYPICFEATURE$ with ankyloglossia result from TBX22 splicing mutations.	has_symptom
+09806d91e3bee7010d76738683aa656bae4c383a	@PHENOTYPICFEATURE$ and hypothalamic involvement in pediatric patients with @DISEASE$ or cysts of Rathke's pouch: impact on long-term prognosis.	has_symptom
+bbd425268b81f7261765a5290b059d3de5ed2a0a	We report two cases of patients with @DISEASE$ who presented with nonobstructive @PHENOTYPICFEATURE$.	has_symptom
+2f098dd0046698a1c68aa5d1c37b36f56c66e543	Female sex, childhood-onset @DISEASE$, @PHENOTYPICFEATURE$ and tumour recurrence are important risk factors.	has_symptom
+6c9c17d6fc8f8bbe7eec19aae5a4e182400e83c8	Female sex, childhood-onset @DISEASE$, hydrocephalus and @PHENOTYPICFEATURE$ recurrence are important risk factors.	false
+7938bf149f2ef26d89a48dfe72d692fa7503708c	Female sex, childhood-onset craniopharyngioma, @DISEASE$ and @PHENOTYPICFEATURE$ recurrence are important risk factors.	false
+9624dfa9f90723cf5821ddc9a1ff832c5359af14	Nonobstructive @PHENOTYPICFEATURE$ in @DISEASE$ patients is rare, and the etiology is not known.	has_symptom
+e3a7f44918f7b63b7ba827d94dc982d6a7a232ef	We describe our surgical series of 25 consecutive patients with @DISEASE$ who presented with @PHENOTYPICFEATURE$.	has_symptom
+f7f30911e4612d3e7c1f58f11fd8e968d06d60f2	Patients with @DISEASE$ commonly present with visual deficits and @PHENOTYPICFEATURE$.	has_symptom
+19f8e884052328357281f2212d8940a6b6486d11	[Neonatal @PHENOTYPICFEATURE$ caused by @DISEASE$].	has_symptom
+5ad049f1a8b6977ddd3ef4bec46263cbd4559d0e	The second had @DISEASE$-related @PHENOTYPICFEATURE$ with once again a non-absorbing peritoneum.	has_symptom
+6b202d7b1015b122e180e7bdd763d27c836da844	Brain MRI revealed @PHENOTYPICFEATURE$ and a suprasellar mixed solid and polycystic lesion that was suggestive of @DISEASE$.	has_symptom
+00035de477ed9eaa21feff962b09d4549285ff9e	MRI of the brain showed a sellar and suprasellar mass suggestive of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+2bf5e159f8035dc7a38fa73dc6d449ad921242b3	Other features of the @DISEASE$ included @PHENOTYPICFEATURE$, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery.	has_symptom
+ded02fd3d0f135e6455d64e09e25d132ee5b13bb	@DISEASE$, a systemic infectious disease caused by Salmonella typhi, is classically characterized by @PHENOTYPICFEATURE$, paradoxical bradycardia, abdominal pain, and a rose colored rash.	has_symptom
+32b953d0ca36a8bdb0fd8d35df93b6fb8589179c	Typhoid fever, a systemic @DISEASE$ caused by Salmonella typhi, is classically characterized by fever, paradoxical bradycardia, @PHENOTYPICFEATURE$, and a rose colored rash.	false
+8e0b02b3ac0f6a7c66c3b09197f0a61747ea0f92	Typhoid fever, a systemic infectious disease caused by Salmonella typhi, is classically characterized by @DISEASE$, paradoxical bradycardia, @PHENOTYPICFEATURE$, and a rose colored rash.	false
+f0e191ba84bb880b8ff30d71e7bb4994f44a9c63	@DISEASE$, a systemic infectious disease caused by Salmonella typhi, is classically characterized by fever, paradoxical bradycardia, @PHENOTYPICFEATURE$, and a rose colored rash.	false
+e9653d01eb7995ef7a18f0ccab5f73242b03f1ef	Group C consisted of 50 patients who were suffering from febrile illnesses other than @DISEASE$ like viral @PHENOTYPICFEATURE$, gastro enteritis, malaria, tonsillitis, upper respiratory tract infections, etc.	has_symptom
+445e35a3eddbe41f5e22280cd434a314a4ed53e4	@DISEASE$, a systemic disease caused by Salmonella typhi, is classically characterized by @PHENOTYPICFEATURE$ and abdominal symptoms.	has_symptom
+74dfacaf809bb4fb18e813918b024c531cd0ac46	@DISEASE$ is a bacterial infection caused by Salmonella typhi or S. paratyphi, recognized as a classical cause of @PHENOTYPICFEATURE$ in returning travellers.	has_symptom
+e503b791845987fc094412eb4ae7245a19289a01	@DISEASE$ is commonly characterized by @PHENOTYPICFEATURE$ and abdominal pain.	has_symptom
+5b694bc565a839347b7b1cae12e3410717edf994	Typhoid fever is commonly characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3c7caf78555c91848ea011792d52c9fd0a407242	@DISEASE$ is commonly characterized by fever and @PHENOTYPICFEATURE$.	false
+4379f9e850f77a465bcbf8c9491855e0241b1d4e	In tropical areas, the differential diagnosis of a child presenting with @PHENOTYPICFEATURE$ and jaundice should include @DISEASE$ hepatitis.	has_symptom
+3c79f23917af0ef678e3c10d3e9a8872c9c8e4b1	The bacterium Salmonella enterica serovar Typhi causes @DISEASE$, which is typically associated with @PHENOTYPICFEATURE$ and abdominal pain.	has_symptom
+ae014bc23827a3b763fb14b8bc456e783c1c9a0f	The bacterium Salmonella enterica serovar Typhi causes typhoid fever, which is typically associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d07ef1abc67a423d5658c1dc71a3da51b09aee61	The bacterium Salmonella enterica serovar Typhi causes @DISEASE$, which is typically associated with fever and @PHENOTYPICFEATURE$.	false
+1090dc176518a5582be055077ede4d7360ba5494	Homeopathic remedy Rhus toxicodendron (Rhus tox) is used for several symptoms including skin irritations, rheumatic pains, mucous membrane afflictions, and @DISEASE$ type @PHENOTYPICFEATURE$.	has_symptom
+6af808341ddbf4b838b5533b8d1e0b3f69cc86c6	@DISEASE$ should be suspected in young travellers returning to New Zealand with @PHENOTYPICFEATURE$, diarrhoea, abdominal pain and headache.	has_symptom
+566213d144159fdcac9121226102a40eb878a6ea	Typhoid fever should be suspected in young travellers returning to New Zealand with @DISEASE$, diarrhoea, @PHENOTYPICFEATURE$ and headache.	false
+e0c2e47f5b8f65822b956bc3c839a4fa7dd34ebb	@DISEASE$ should be suspected in young travellers returning to New Zealand with fever, diarrhoea, @PHENOTYPICFEATURE$ and headache.	false
+99ccd2b3726c64e22fdc00dc36547f8c42c14595	Typhoid fever should be suspected in young travellers returning to New Zealand with fever, @DISEASE$, @PHENOTYPICFEATURE$ and headache.	false
+1e29081c648b762ff8cfdcc66a37bb70780fe72c	To compare clinical and bacteriological efficacies of azithromycin and ciprofloxacin for @DISEASE$, 123 adults with @PHENOTYPICFEATURE$ and signs of uncomplicated typhoid fever were entered into a randomized trial.	has_symptom
+159611d829a251caa89e5f18e224b93cac567ce6	Heterozygous loss of Na(V)1.1 channels is the underlying cause for severe @PHENOTYPICFEATURE$ epilepsy of infancy; the circadian deficits that we report may contribute to sleep disorders in severe @DISEASE$ patients.	has_symptom
+af881ede0db420c3c71056ea20a360c92291e7f6	Dravet syndrome (DS) or severe @DISEASE$ has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable @PHENOTYPICFEATURE$, complex partial, or absence seizures.	has_symptom
+5acb4dec00a870eae64500cb3dc586b63918a765	Dravet syndrome (DS) or severe myoclonic epilepsy of infancy has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable @DISEASE$, complex partial, or @PHENOTYPICFEATURE$.	false
+fa91b1b4599b788411e4ba54c780601d7c94f2f9	@DISEASE$ (DS) or severe myoclonic epilepsy of infancy has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable myoclonic, complex partial, or @PHENOTYPICFEATURE$.	false
+1ec71d406fb5e41914548048340c890b64ac3ee8	Dravet syndrome (DS) or severe @DISEASE$ has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable myoclonic, complex partial, or @PHENOTYPICFEATURE$.	false
+83cfacaf33a7ca319883e9f0fade1dc0972dcd31	We evaluated 35 patients (21 female, mean age 24.7 years) with different types of generalised epilepsies (juvenile myoclonic epilepsy (JME), severe @DISEASE$ (SMEI), Lennox-Gastaut syndrome (LGS), myoclonic-astatic epilepsy (MAE), myoclonic absences (MA), benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI) and 4 patients had unspecified epileptic syndromes).	has_symptom
+d363feeb2002752568bfb0bf9fde1ac323400e0c	We evaluated 35 patients (21 female, mean age 24.7 years) with different types of generalised epilepsies (juvenile @PHENOTYPICFEATURE$ epilepsy (JME), severe @DISEASE$ (SMEI), Lennox-Gastaut syndrome (LGS), myoclonic-astatic epilepsy (MAE), myoclonic absences (MA), benign myoclonic epilepsy in infancy (BMEI) and 4 patients had unspecified epileptic syndromes).	has_symptom
+8132819114e8bbba2fd4debbfa1791ba6dae2329	Preliminary findings indicate that KDs may be specifically effective in some epileptic syndromes, such as West syndrome, severe @DISEASE$, @PHENOTYPICFEATURE$-astatic epilepsy, febrile infection related epileptic syndrome, and drug-resistant idiopathic generalized epilepsies or refractory status epilepticus.	has_symptom
+591174f8d7551321770450b553e9a65f37c0b060	A final diagnostic impression of seizure disorder was established in 69%, of whom 17% (28 patients) had @PHENOTYPICFEATURE$ epilepsy, including possible severe @DISEASE$.	has_symptom
+0bafe77b8f1cf3f3c33151352b8916e25b9073ab	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe @DISEASE$, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign @PHENOTYPICFEATURE$ epilepsy, and benign familial/nonfamilial infantile seizures.	has_symptom
+1291bf161d4cf46f3543eff95d5a7410305f0dab	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe @DISEASE$, @PHENOTYPICFEATURE$-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	has_symptom
+e28503bc41eb8aa2c4ace7632f092e91e204b44e	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early @PHENOTYPICFEATURE$ epilepsy, infantile spasms/West syndrome, severe @DISEASE$, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	has_symptom
+3f7cf90ae0dc5806421ed09d1b822b76e4020529	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, @DISEASE$-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+e5729ed9a7ffed3f545fc4e976050421190369fd	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early @DISEASE$ epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+293898ef8614a537cadbb9c3c32e967831519f8c	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/@DISEASE$, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+e31f737f6b564783848e33552777383ee263aa1c	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/@DISEASE$, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	false
+2ee6295262d731be6d67281c8f0b246908c5145c	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, @DISEASE$, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	false
+c42a59bbfe77bf2ac50996fa2084d46947b47ccf	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign @DISEASE$ epilepsy, and benign familial/nonfamilial infantile seizures.	false
+e2155220b545220a4a436f0490dea216184ae2c8	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign @DISEASE$ epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+eecbd1d18932e3526c68f56256edff3bdd753268	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe @DISEASE$, myoclonic-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	false
+ada569315647ffb57f28a1bd5ca3991291c2d205	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe @DISEASE$, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+32fd14a2fcfff559248ebcc14fc090539fb84bcd	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, @DISEASE$, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+cf7051e6eef2c55f3eab12c062e803ffc93a768d	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early @DISEASE$ epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	false
+2b1a45b207fe5d8e637d615bc25626d4cdab1d7c	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, @DISEASE$-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	false
+b4bf8382f01f59b7e653e545bb0a8499d5fe3f83	It is stated that, though the manifestations of @DISEASE$ are varied, this disease is in most cases characterized by a sagittal frontal sulcus with partially closed frontal fontanel and @PHENOTYPICFEATURE$.	has_symptom
+efb746cb928fcd96b20b711f9139a343fa31ebf3	In this review, we aimed to depict the clinical, radiological, and genetic features of @DISEASE$ (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a @PHENOTYPICFEATURE$, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a short stature, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular.	has_symptom
+c95440aa890f6f2d16f10d9be4ca97d2ea3c876a	In this review, we aimed to depict the clinical, radiological, and genetic features of @DISEASE$ (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a @PHENOTYPICFEATURE$, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular.	false
+3d5e98b9f394c3c7d2ce78efeaff0afc5a0a552e	In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a @DISEASE$, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a @PHENOTYPICFEATURE$, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular.	false
+bff6ca0503dfd4667074b93adc9d776e3b9b0625	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking @DISEASE$), relative macroencephaly with cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	has_symptom
+8d67f1f521a41ca5d02cb3b4dba3a9d5a4ab11d7	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and @PHENOTYPICFEATURE$ (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, @DISEASE$, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+5a91a9cb254723fda9fe0f644b62831323ca8648	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with @PHENOTYPICFEATURE$, @DISEASE$, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+5bd5eef1c1e5f560e7bf633334d0449241275a6c	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$ (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+cecd6adb5cd0c8f7968559b0cefe8ee2e1614d09	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and @PHENOTYPICFEATURE$ (evoking @DISEASE$), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+de92e4db77e3852a563004b34b1f5ec3de299c2a	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking @DISEASE$), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, @PHENOTYPICFEATURE$ (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+331265fbefb2be366dc0f7a5731c65f5ab23976c	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking @DISEASE$), relative macroencephaly with @PHENOTYPICFEATURE$, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+3c10bd105cbc584c255307b97b41279c64bec892	Issues related to the control of seizures and bleeding, as well as behavioral management due to @PHENOTYPICFEATURE$, render dental treatment less accessible or impossible for patients with @DISEASE$ (SWS).	has_symptom
+fed6e68c6593eb4e6118ef91d96ea1c1fb3b3656	Issues related to the control of seizures and bleeding, as well as behavioral management due to @PHENOTYPICFEATURE$, render dental treatment less accessible or impossible for patients with Sturge-Weber syndrome (@DISEASE$).	has_symptom
+fd727a55f277aaae5dda88f7dac80efe42a1cc37	Issues related to the control of @PHENOTYPICFEATURE$ and bleeding, as well as behavioral management due to @DISEASE$, render dental treatment less accessible or impossible for patients with Sturge-Weber syndrome (SWS).	false
+1f766ea2498d1b1a1e6e907c45c14412ef99c55c	Issues related to the control of @PHENOTYPICFEATURE$ and bleeding, as well as behavioral management due to mental retardation, render dental treatment less accessible or impossible for patients with @DISEASE$ (SWS).	false
+275929358a0bf1a75eecccdb31b783b353891c7e	Issues related to the control of @PHENOTYPICFEATURE$ and bleeding, as well as behavioral management due to mental retardation, render dental treatment less accessible or impossible for patients with Sturge-Weber syndrome (@DISEASE$).	false
+11841a527c3dc6646f38fb26861523945332e6fb	Sturge-Weber syndrome (@DISEASE$) is an uncommon etiology of hemiplegic migraine-like (HM-like) attacks, associated with epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+2035ac5006e37b4c7148ec24656a646265e2e4c9	@DISEASE$ (SWS) is an uncommon etiology of hemiplegic migraine-like (HM-like) attacks, associated with epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+690b2ec99e0f11c31a51d64fbd54dc9701e09d39	Other clinical findings associated with @DISEASE$ are seizures, glaucoma, hemiparesis and @PHENOTYPICFEATURE$.	has_symptom
+8b41f16d8a67ddfb6b781574e315dd36d865fad7	Other clinical findings associated with SWS are @PHENOTYPICFEATURE$, @DISEASE$, hemiparesis and mental retardation.	false
+d1e671b46fb75d3d9732bdcc7932cc1607f0c55b	Other clinical findings associated with SWS are @PHENOTYPICFEATURE$, glaucoma, hemiparesis and @DISEASE$.	false
+65dea640815bbb6a3123a483ff49a9b900ef26c3	Other clinical findings associated with @DISEASE$ are @PHENOTYPICFEATURE$, glaucoma, hemiparesis and mental retardation.	false
+9c58629b15a9499e4422fd5e3c9427d6fa869aad	Clinical manifestation for infants with @DISEASE$ depends on the affected organs, but can include seizures, @PHENOTYPICFEATURE$, and glaucoma.	has_symptom
+b1836417ecdc5fe19f871b05fea25eda5fa21005	Clinical manifestation for infants with SWS depends on the affected organs, but can include @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+05a50d476aab1212e948f74b723109b18582e7d1	Clinical manifestation for infants with SWS depends on the affected organs, but can include @PHENOTYPICFEATURE$, @DISEASE$, and glaucoma.	false
+091fa48790c629c5badb5b1ced2b78e982f63cd6	Clinical manifestation for infants with @DISEASE$ depends on the affected organs, but can include @PHENOTYPICFEATURE$, mental retardation, and glaucoma.	false
+4a9fd8e117ef7326746be3481ed877e4e7eeb985	Other clinical findings associated with @DISEASE$ are seizures, glaucoma, hemiparesis,@PHENOTYPICFEATURE$ and delayed developmental milestones.	has_symptom
+09b11ce17e1bcd9b0be070b607bd166d8c0925fd	Other clinical findings associated with SWS are @PHENOTYPICFEATURE$, @DISEASE$, hemiparesis,mental retardation and delayed developmental milestones.	false
+478f0fe758671c8b1cd0c98c04e6499a1fde3730	Other clinical findings associated with SWS are @PHENOTYPICFEATURE$, glaucoma, hemiparesis,@DISEASE$ and delayed developmental milestones.	false
+6e1bb77caefab0f5f51c19cbae3e2d9eb02e7f2e	Other clinical findings associated with @DISEASE$ are @PHENOTYPICFEATURE$, glaucoma, hemiparesis,mental retardation and delayed developmental milestones.	false
+67a3c22dd88ca3b422206ef2a2167afe5ad4016b	Epilepsy, hemiparesis, @PHENOTYPICFEATURE$ and ocular problems were the most frequent and severe features of patients with @DISEASE$ in this series.	has_symptom
+fc606ed7b5f4590f8c788e1daa3c8f921ea86e55	Another characteristic of the @DISEASE$ is the occurrence of epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+f6518f085b745853beb4763676de61ac91eab697	Sturge-Weber syndrome (@DISEASE$) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, seizures, @PHENOTYPICFEATURE$, and usually ipsilateral meningeal vascular malformations.	has_symptom
+eb43d3a33d087c2af34670eeea9064a10e7a2f69	@DISEASE$ (SWS) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, seizures, @PHENOTYPICFEATURE$, and usually ipsilateral meningeal vascular malformations.	has_symptom
+c55f5b8767a3c6b59b38857c033438603c5dfff1	Sturge-Weber syndrome (SWS) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, @PHENOTYPICFEATURE$, @DISEASE$, and usually ipsilateral meningeal vascular malformations.	false
+0e898be7e3d1c434e43818bd6d4ecee829620a19	Sturge-Weber syndrome (@DISEASE$) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, @PHENOTYPICFEATURE$, mental retardation, and usually ipsilateral meningeal vascular malformations.	false
+02742215c0fd1d778c441c255a5c2d089ddab0fb	@DISEASE$ (SWS) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, @PHENOTYPICFEATURE$, mental retardation, and usually ipsilateral meningeal vascular malformations.	false
+fec242350c4c0cd9a0cfeb81814efe9151db243c	@DISEASE$ (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with seizures and other neurologic complications including @PHENOTYPICFEATURE$, and glaucoma.	has_symptom
+b0ac9c4b439c1f369968058cd5648765ebfa987d	Sturge-Weber syndrome (@DISEASE$) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with seizures and other neurologic complications including @PHENOTYPICFEATURE$, and glaucoma.	has_symptom
+c0372a730cb0d554603b7e23322137b07ec67742	Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with @PHENOTYPICFEATURE$ and other neurologic complications including mental retardation, and @DISEASE$.	false
+24987d17f193f447e018b10778db5baca356fd37	Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by cutaneous @DISEASE$ angioma, leptomeningeal angioma associated with @PHENOTYPICFEATURE$ and other neurologic complications including mental retardation, and glaucoma.	false
+a58e4b09804be701a3ca98a09836872aed9acd01	@DISEASE$ (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with @PHENOTYPICFEATURE$ and other neurologic complications including mental retardation, and glaucoma.	false
+ce75b6524092c060621b2786e116497fbe3d4ed4	Sturge-Weber syndrome (@DISEASE$) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with @PHENOTYPICFEATURE$ and other neurologic complications including mental retardation, and glaucoma.	false
+b5ad4b7f5ac54bab3c53456df505e687805a9414	Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with @PHENOTYPICFEATURE$ and other neurologic complications including @DISEASE$, and glaucoma.	false
+1d68ea39cf262b98bcd2d3063dc58205e83665c1	A second patient with @DISEASE$: type A1 brachydactyly, @PHENOTYPICFEATURE$, hearing loss, microcephaly, mental retardation and ptosis.	has_symptom
+86628b1456f97d4adaba5e44fcc64b57ac0f9502	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, @PHENOTYPICFEATURE$ and ptosis.	false
+cb9d1866965ed78a8c708f5d0aa03b0b8503fa03	A second patient with Tsukahara syndrome: type A1 brachydactyly, @DISEASE$, hearing loss, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+b7b6ae8b3dde91c9e8110330f1bc6f40c5f62fc7	A second patient with Tsukahara syndrome: type A1 brachydactyly, @DISEASE$, hearing loss, @PHENOTYPICFEATURE$, mental retardation and ptosis.	false
+eaf0afac3b5d6b1a5d16ff982565bfde8ce5599c	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+92675266fccc2c78ecf8000693b106c2cf35485e	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation and ptosis.	false
+4cb4dff04a91fc3eba890b3dd17e9c2d62208e73	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+9d89d2171ca0d39e98d07ca4fd4ba2e357cc1d9d	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$ and ptosis.	false
+e39cc9a9fa89775ca08ab2ea0ee41cd1b67d551e	A second patient with Tsukahara syndrome: type A1 brachydactyly, @DISEASE$, hearing loss, microcephaly, @PHENOTYPICFEATURE$ and ptosis.	false
+3539089087601b9ca222e22f24e5e6a13b556a0d	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, @PHENOTYPICFEATURE$, mental retardation and ptosis.	false
+58e9193985c7825db0e15d379651dedbeba0d6b5	We report on a girl with Giuffr?-@DISEASE$ manifesting microcephaly, mental retardation, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and scoliosis.	has_symptom
+532bbfe1d5fa47293e77d918e588df455c5f4130	We report on a girl with Giuffr?-@DISEASE$ manifesting @PHENOTYPICFEATURE$, mental retardation, radio-ulnar synostosis, short stature and scoliosis.	false
+7f9f7d2e00ce7fb4809cc77d3aeedbff6ce528df	We report on a girl with Giuffr?-Tsukahara syndrome manifesting microcephaly, @PHENOTYPICFEATURE$, radio-ulnar synostosis, short stature and @DISEASE$.	false
+b49b98deec7ee922e2a1fb25831f6e78880f8903	We report on a girl with Giuffr?-Tsukahara syndrome manifesting microcephaly, @PHENOTYPICFEATURE$, radio-ulnar synostosis, @DISEASE$ and scoliosis.	false
+ead404e3ac727676f2310bee3a1b03b50c038ebc	We report on a girl with Giuffr?-Tsukahara syndrome manifesting @PHENOTYPICFEATURE$, mental retardation, radio-ulnar synostosis, short stature and @DISEASE$.	false
+1f2d2f8421371475c3449a2dd68248e8964ab8f6	We report on a girl with Giuffr?-@DISEASE$ manifesting microcephaly, @PHENOTYPICFEATURE$, radio-ulnar synostosis, short stature and scoliosis.	false
+c0739f6edfe95e8e28d7c7faaad1f77802149d9c	We report on a girl with Giuffr?-Tsukahara syndrome manifesting @PHENOTYPICFEATURE$, mental retardation, radio-ulnar synostosis, @DISEASE$ and scoliosis.	false
+84e88ced50e717d5515ee2ad4ae2e9642e6c0566	@DISEASE$ of radioulnar synostosis, @PHENOTYPICFEATURE$, microcephaly, scoliosis, and mental retardation.	has_symptom
+7b7f7b519347808735d0a1a632d811274800cd0f	@DISEASE$ of radioulnar synostosis, short stature, @PHENOTYPICFEATURE$, scoliosis, and mental retardation.	false
+cbf0f72de869a7e83cd98a84777b21524372386d	Tsukahara syndrome of radioulnar synostosis, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation.	false
+c4ec3741f5c15d71e0d70f88a79c230ea490b801	Tsukahara syndrome of radioulnar synostosis, @DISEASE$, microcephaly, scoliosis, and @PHENOTYPICFEATURE$.	false
+c813c05ab844e39c8dba4ec479a863480c7c9f0b	@DISEASE$ of radioulnar synostosis, short stature, microcephaly, scoliosis, and @PHENOTYPICFEATURE$.	false
+3bb145c355ec816cb8edfb41c9fb4a343f528136	Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c0f7b850b47fd1310fb161df07d47c06bc30aa06	Tsukahara syndrome of radioulnar synostosis, @DISEASE$, @PHENOTYPICFEATURE$, scoliosis, and mental retardation.	false
+9c7599eb96fbe5c4ee4569030d85527a17534e57	A total score of 6 or greater using a weighting scheme in which certain manifestations were assigned a weight of 2 (facial dysmorphism, nasal obstruction or rhinorrhea, enlarged tongue, enlarged liver, enlarged spleen, joint stiffness) and others assigned a weight of 1 (hernia, @PHENOTYPICFEATURE$, enlarged tonsils, airway obstruction or sleep apnea) correctly identified 95 % of patients who had no family history of @DISEASE$ or who were not diagnosed prenatally.	has_symptom
+bd50942783d38c873f8a328170805a10bb2a94b5	A total score of 6 or greater using a weighting scheme in which certain manifestations were assigned a weight of 2 (@PHENOTYPICFEATURE$, nasal obstruction or rhinorrhea, enlarged tongue, enlarged liver, enlarged spleen, joint stiffness) and others assigned a weight of 1 (hernia, hearing impairment, enlarged tonsils, airway obstruction or sleep apnea) correctly identified 95 % of patients who had no family history of @DISEASE$ or who were not diagnosed prenatally.	false
+6242896197d5b599e86b0a4e5d88a77a7b00ad4e	A total score of 6 or greater using a weighting scheme in which certain manifestations were assigned a weight of 2 (@PHENOTYPICFEATURE$, nasal obstruction or rhinorrhea, enlarged tongue, enlarged liver, enlarged spleen, joint stiffness) and others assigned a weight of 1 (hernia, @DISEASE$, enlarged tonsils, airway obstruction or sleep apnea) correctly identified 95 % of patients who had no family history of Hunter syndrome or who were not diagnosed prenatally.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+dcaac432cecb160d1eebf44d7e34499d85723caa	@DISEASE$ (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of myelin, @PHENOTYPICFEATURE$, and bone cysts.	has_symptom
+2549245d2fc238c042357ae25a1de2ea9754963d	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or @DISEASE$, is a presenile dementia associated with loss of myelin, @PHENOTYPICFEATURE$, and bone cysts.	has_symptom
+dbffebae0d4ee230ca7a5e59c5d0a90adb075ccd	@DISEASE$ should be considered in adult patients under age 50 years with dementia and @PHENOTYPICFEATURE$.	has_symptom
+7bf7a2a924004d0f078ec8ffc6790c2202d6f88b	Electronic search of the key words @PHENOTYPICFEATURE$, osteoporosis, and dementia revealed a rare condition termed Nasu-Hakola disease or @DISEASE$.	has_symptom
+08e3cbf6c3bf5c66df0c88379afdd11e41392458	Electronic search of the key words @PHENOTYPICFEATURE$, osteoporosis, and dementia revealed a rare condition termed @DISEASE$ or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.	has_symptom
+9285ae3208758300fa0c25416ddf3a99589608bd	Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to deafness (palmoplanta keratoderma, Bart-Pumphrey syndrome, @DISEASE$, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, etc.).	has_symptom
+505bfe1088084857e7524437f56c5f6ead0937ac	Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to @PHENOTYPICFEATURE$ (palmoplanta keratoderma, Bart-Pumphrey syndrome, @DISEASE$, keratitis-ichthyosis-deafness syndrome, etc.).	has_symptom
+21e2cfe49b44ba3511f9bdd1c90f2387fb128e8a	Mutations in connexin 26 are linked to diseases including @DISEASE$, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with @PHENOTYPICFEATURE$, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	has_symptom
+8648835da60c7dca527cdc11accedf90df71f6c8	Mutations in connexin 26 are linked to diseases including @DISEASE$, keratitis-ichthyosis deafness, and hystrix-like ichthyosis @PHENOTYPICFEATURE$ syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	has_symptom
+6dfcec9af9b97aa2e7de39fce04683ddd6437bbd	Mutations in connexin 26 are linked to diseases including @DISEASE$, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, @PHENOTYPICFEATURE$ with Clouston-like phenotype, and Bart-Pumphrey syndrome.	has_symptom
+29fa97360e1e325a00520ccc0e2129cb29c2b747	Mutations in connexin 26 are linked to diseases including @DISEASE$, keratitis-ichthyosis @PHENOTYPICFEATURE$, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	has_symptom
+508ac7fa6f07d72917b01d25dd25ea5b5f17087f	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like @DISEASE$ deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+ff3f8f8feac5fc05c467b7ed6c2d5750748db14d	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis @DISEASE$, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+96b72455bb2b6d210aaf81ff0041b4ab8ba65e34	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, @DISEASE$ with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+6f3a876165c00c5ac865e01ef057b22d776657f4	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis @DISEASE$ syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+9fb1bd89b4d634edd19a3a518d7325d3ace152f7	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with @DISEASE$, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+2312d75d318616762bf2ba1aa39d438d2fa0be12	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness @DISEASE$, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+d190293ebc2dd7e4f1aac690d0cc7b0a047da42b	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-@DISEASE$ deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+346c45a95c81ffdd2f64c3d58b9ef7802cc756b3	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, @DISEASE$ with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+c37629b4f9fa8598f3a8216060050a831b97e7d0	Mutations in connexin 26 are linked to diseases including @DISEASE$, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+ce276e91cdba77b9ccbd41d69d2512bef8086b1c	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and @DISEASE$.	false
+1934af4875c8f7b30a749d843bb34a9db55c692b	@DISEASE$ (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and @PHENOTYPICFEATURE$.	has_symptom
+e292d7da336e8487462ae7f0e1e2196d071edf9b	@DISEASE$ (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26.	has_symptom
+999676056bc7c77258f4dc49f208485df2829c1f	The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+cad2d5ae341b0cd219ef5b4d61f20d134b3ea484	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, @DISEASE$, hystrix-ichthyosis @PHENOTYPICFEATURE$ syndrome and Bart-Pumphrey syndrome.	has_symptom
+7c9cb1eed7af521fb3aa1e87ca64cb27c73b63bf	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic @PHENOTYPICFEATURE$, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, @DISEASE$, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome.	has_symptom
+72c72d15643e81b07ef6a8ff5ffadc3de4557a05	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis @PHENOTYPICFEATURE$ syndrome, @DISEASE$, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome.	has_symptom
+27de39783c2798d6247a4c3229f9875f781ad749	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic @PHENOTYPICFEATURE$ associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, @DISEASE$, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome.	has_symptom
+9efd53f44d9882943106d84e9f6186bd89ab374c	An additional family with @DISEASE$, a combination of @PHENOTYPICFEATURE$ and palmoplantar keratoderma with constriction of the digits, was also included.	has_symptom
+278dd538246182a171513dced8ac6a7b7baeebab	An additional family with Vohwinkel syndrome, a combination of @DISEASE$ and @PHENOTYPICFEATURE$ with constriction of the digits, was also included.	false
+25b55010d745dc55b0c82a78c046dc3c42f7b8b2	An additional family with @DISEASE$, a combination of hearing impairment and @PHENOTYPICFEATURE$ with constriction of the digits, was also included.	false
+0354b9de1d1dcc72daf2e62539e4de6ceebd5bec	Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and @DISEASE$.	has_symptom
+5321ea03813266a6670902c24477f00524e9d17e	Ten mutations are autosomal dominant and are in most cases associated with various skin diseases: the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, @DISEASE$ and palmoplantar keratoderma with deafness.	has_symptom
+1ba16720fcf7d6bf1e3462e3afb43d25d92ba33d	Ten mutations are autosomal dominant and are in most cases associated with various skin diseases: the keratitis-ichthyosis-deafness (KID) syndrome, @DISEASE$ and palmoplantar keratoderma with @PHENOTYPICFEATURE$.	has_symptom
+59c6c29e2035d7227d9db17210a52f61d5b8b240	Six patients (three primary visceral myopathy, two normal histology on light microscopy, one @DISEASE$ secondary to scleroderma) responded, with decreased pain and @PHENOTYPICFEATURE$, normalized bowel dysfunction and decreased episodes of ileus.	has_symptom
+e48ae52330e74a7107e5a2670221a413f042c305	Six patients (three primary @DISEASE$, two normal histology on light microscopy, one visceral myopathy secondary to scleroderma) responded, with decreased pain and @PHENOTYPICFEATURE$, normalized bowel dysfunction and decreased episodes of ileus.	has_symptom
+e3d2aa266b1b5bd5804b18e6d77c574e3418aa65	It is important to consider @DISEASE$ as a possible diagnosis in cases with recurrent episodes of abdominal pain, @PHENOTYPICFEATURE$, and abdominal distension, but without actual intestinal obstruction.	has_symptom
+89095c4e3089a67514b8084c5f92ddb600e066db	It is important to consider @DISEASE$ as a possible diagnosis in cases with recurrent episodes of @PHENOTYPICFEATURE$, vomiting, and abdominal distension, but without actual intestinal obstruction.	false
+373890800f370e70473a5c3388bb321cfbbde676	It is important to consider visceral myopathy as a possible diagnosis in cases with recurrent episodes of @PHENOTYPICFEATURE$, @DISEASE$, and abdominal distension, but without actual intestinal obstruction.	false
+de17a75c0eea1995e823d6ef5cf2ec198c941be2	In three of the four patients it was associated with a @PHENOTYPICFEATURE$, viz (1) double coarctation of the aorta, (2) coarctation of the aorta associated with @DISEASE$, and (3) subvalvular aortic stenosis.	has_symptom
+75d30e27bd3cf0a1d2a2f710b1846b256f4e9726	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	has_symptom
+b5d3cf1ddca1270b5fb189116a974196d8871c80	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@DISEASE$, polydactyly, @PHENOTYPICFEATURE$).	false
+98cf4fa9535b38b188c5c4a31169453ff4a66df7	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+05502d9bce4c0299fe9f8cbb60b78f826936e29c	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+e27c37573537f349c3edbb99c7c22ca46c5da418	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+bc3b97ef5eddb18fee007cc18bdc7a5745bfee0d	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@DISEASE$, @PHENOTYPICFEATURE$, syndactyly).	false
+2fbd83d988cad6cef1e7ee62645d7b9999174bcc	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+b34260a45dc451e4f5489647d1b5ae75a4994b2c	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	has_symptom
+e5d18036e6c42039fd55d74f78b5fde9766bd794	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @DISEASE$ of hands) symptoms.	false
+f82857c78dc821577446480f37197001f1bc072f	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @DISEASE$ of hands) symptoms.	false
+17d3508e8547c851fb83e3db928277297d90d328	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral @DISEASE$ of hands) symptoms.	false
+6f17b437503ce6d61b5fcaaf55696ef1d4cbc9cc	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+a5ec3c1af96a2f0ce4de15df9418900ad591ea05	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+fdc4d4c6d7355a46224bfc33ec0dc51d868dc2cf	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+16883c0d047a9a92c271ab41faef36c6bc597a40	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+d88d951ebcee505c1ee1781034a94d6654d417ef	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+2efb411f80f33ba1463ae7a9b5d3bd19bd7b818d	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+7574f444f8744df2ef2be58f4fff947e39e39692	@PHENOTYPICFEATURE$ and dysarthria in @DISEASE$.	has_symptom
+0d4864bbbdeeb393bd12a5919ec8d7582336efd3	@PHENOTYPICFEATURE$ and unexpected @DISEASE$ associated with primary biliary cirrhosis, ulcerative colitis and vitiligo.	has_symptom
+2f74e4261b810577291747de26002571e938bbbd	In early neurological and neurosurgery rehabilitation, patients with central of respiratory regulation disturbances (e.g., cerebral stem lesions), swallowing disturbances (neurogenic @PHENOTYPICFEATURE$), neuromuscular problems (e.g., critical illness polyneuropathy, Guillain-Barre syndrome, paraplegia, @DISEASE$) and/or cognitive disturbances (e.g., disturbed consciousness and vigilance disorders, severe communication disorders), whose care during the weaning of ventilation requires, in addition to intensive medical competence, neurological or neurosurgical and neurorehabilitation expertise.	has_symptom
+90560f866b7fe2599ed0c4f0b063e73571f62f7c	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, syndactyly, @DISEASE$, crooked tail, deficiency of uridine monophosphate synthase, @PHENOTYPICFEATURE$, Marfan syndrome, and weak calf syndrome.	has_symptom
+bb425538cab2f118a1f662e1d2aca996a9ded614	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf @DISEASE$.	false
+7b3a3ff82b72b4bce43c43ddf01d35ad564e17b2	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, @DISEASE$, and weak calf syndrome.	false
+780771e028fdb8a4bdba1f45117fd27650ec212f	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular @DISEASE$, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome.	false
+1ffb7d5dcbd490f1a7aec675170e9afe15493b82	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, @DISEASE$, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome.	false
+502db02c9b8863871396cc1b6c153059cb820c83	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, @DISEASE$, Marfan syndrome, and weak calf syndrome.	false
+c4e593978601428a01a92560a019336b494e12dd	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, @DISEASE$, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, Weaver syndrome, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome.	false
+acbec472abb727147be2883c3783bca88521e97f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+560c49cf7b499431d844fd8d2f8ef5db090032a9	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or @DISEASE$ was reported.	false
+d8542fe71400464e87e7e465b5cc592f5da32d0f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ef3124d1b8e88f3e0a80c2ed84f6cb34eff245b3	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+898fec6de5e9943f8b93dabf575051e854cf5dd6	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7f474e99b78313102675500f414cfe2063f6a0ac	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+826b2d7cdbcbba7b37e603ff19c9959da3ce93d4	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+11455ac1896eabdc2937a7f68369824ee2de6d6b	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+212540789e8ac889ddbbedc0d59b417a1970b68e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+66600f101a199f1dc15ab9c36c8fbf6345c099e2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7f6403517e0f22c5d56aa33c7ddcc88cb27cb9b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+c67f652f8054e78da7ff7b09707c19275943acae	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+c677e43ac831d38c3b2218e16952544f784685b4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+b4d2e5913b4fc56f133269e216c5e5a023537abd	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ee436fee79aae32686811a27d1e65b26af10cad9	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+5403f0bc4b39a58b303075ada313bdbae7f82035	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+573cf6f0eb7e8ff7df6d503eb2859d4abe8764e2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @DISEASE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+377a65c1860bb3c50ee132ef19380cafffcdb74a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+743c1ff8c2ad71a3f2a845870e74eb46d57642d2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently @DISEASE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+5a8d95578f47b3e7d79903ea81fcfdb128b8bc7c	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8188c1047b9fee112b00e970601de0855297c853	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+86cf1806aa10168fea60d120486cfe9b491e91a6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+57a1070086fa81cbb915df4c549d9605668a5cc0	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @DISEASE$, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+c98e7cbe7c252728a49a5c028c88b98293de79fa	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+794c573c0c5897fff46d73c169a8015c2e50a027	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+85f215a23c9aa98a335dc210eb7f4c7cc3195410	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ac23657522b9f6cdd29ed61ca0afd9e0801e79ba	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8a3450ad9377b5b6782921f1bccd1c82c77b8555	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+bc568a9fca74bf5b30d2388450f8c9a10d145ac7	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+2d79c46b6ad65565cbbb07c6d013c97b3d0b8ed6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+32dcb1d2e3da7b4150617133a2cf048f502c821d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+40bea6a0da83bc49927d87431acea16a5b31a4f4	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+8e33f4c0896eea599b80df90333864230a0ea29c	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+f7db39d4274e7510049420ce3f0b52fa286a241b	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	false
+d76ace2ee80678e11e2a0f1e795086bab8bbf796	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7d4b160abdb6554d1c43a92967db5685a98c064a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+27f3eec565fe8c1b9b11a23f08e51362f65c30b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	has_symptom
+bef6b1717764adbba855262aef86807f9782a012	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+75d30e27bd3cf0a1d2a2f710b1846b256f4e9726	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+e27c37573537f349c3edbb99c7c22ca46c5da418	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+84f1b431ac8bda8fdd356d605e2626eb42866e9e	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+2fbd83d988cad6cef1e7ee62645d7b9999174bcc	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+d5e1e1e326a029a4647ede8a28ea3fcfaa6da7d4	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, @DISEASE$).	false
+c754a4cd492062c89aee53ada66b31e1b864d455	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, @DISEASE$).	false
+52e1fe7bd3c6f14c6440f28a6cb98eea11e4d635	Some genetic conditions, as cystinosis, familial hypophosphataemic @PHENOTYPICFEATURE$, type-I vitamin D-resistant rickets and @DISEASE$ have an impact on growth and growth failure is one of the major problem in children with chronic renal failure (CRF).	has_symptom
+b6b6167fb6a82dc77d3e449d426209d28a82d2cd	Some genetic conditions, as cystinosis, familial @PHENOTYPICFEATURE$ @DISEASE$, type-I vitamin D-resistant rickets and renal tubular acidosis have an impact on growth and growth failure is one of the major problem in children with chronic renal failure (CRF).	false
+47bdfdcc1fdd90a11b87fd521f6368ab102637e7	Some genetic conditions, as cystinosis, familial @PHENOTYPICFEATURE$ rickets, type-I vitamin D-resistant rickets and renal tubular acidosis have an impact on growth and growth failure is one of the major problem in children with @DISEASE$ (CRF).	false
+6b367d8c79b061c45b8d40b5443b30ada80bce89	Some genetic conditions, as cystinosis, familial @PHENOTYPICFEATURE$ rickets, type-I vitamin D-resistant rickets and @DISEASE$ have an impact on growth and growth failure is one of the major problem in children with chronic renal failure (CRF).	false
+064734808724bb90171eeb360915e246fab8fa0a	In addition, mutations in POLD1 have been identified in the developmental disorders of @PHENOTYPICFEATURE$, deafness, progeroid features and lipodystrophy and @DISEASE$, while changes in expression or activity of POLD1 have been linked to senescence and aging.	has_symptom
+9e3d58488798ec3d68f8e32467df34dd9b01b620	In addition, mutations in POLD1 have been identified in the developmental disorders of @DISEASE$, @PHENOTYPICFEATURE$, progeroid features and lipodystrophy and atypical Werner syndrome, while changes in expression or activity of POLD1 have been linked to senescence and aging.	false
+5eaa5dcbf04c4ee1dac0d16ab3cb03248e3949fa	In addition, mutations in POLD1 have been identified in the developmental disorders of mandibular hypoplasia, @PHENOTYPICFEATURE$, progeroid features and @DISEASE$ and atypical Werner syndrome, while changes in expression or activity of POLD1 have been linked to senescence and aging.	false
+143641c7ed14de9a75367563208d73a730f665c6	In addition, mutations in POLD1 have been identified in the developmental disorders of mandibular hypoplasia, @PHENOTYPICFEATURE$, progeroid features and lipodystrophy and @DISEASE$, while changes in expression or activity of POLD1 have been linked to senescence and aging.	false
+c64c711305865f44bf5bac5e998e5e8b1b8ca2ea	Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), @PHENOTYPICFEATURE$ and peripheral neuropathy (MIM 218000) and French-Canadian-type @DISEASE$ (MIM 220111).	has_symptom
+4d7375ea317291de7f89c4a6694dbf75a73b3f5d	Some were discovered in French Canadians, such as autosomal recessive @PHENOTYPICFEATURE$ of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type @DISEASE$ (MIM 220111).	false
+7987884ec71a96c0c5bba5f321bf6d00b081bb76	Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), @DISEASE$ and @PHENOTYPICFEATURE$ (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111).	false
+ccaa26c0327058e6daed46cae90e9a7349075d3d	Some were discovered in French Canadians, such as autosomal recessive @PHENOTYPICFEATURE$ of the Charlevoix-Saguenay (MIM 270550), @DISEASE$ and peripheral neuropathy (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111).	false
+ab20ce1f06e1505abbba7a334b7890518dc76894	Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and @PHENOTYPICFEATURE$ (MIM 218000) and French-Canadian-type @DISEASE$ (MIM 220111).	false
+614cc73004aab4f1d377d23bdd936e490d8a2051	Patients with @DISEASE$ had the greatest percentage of @PHENOTYPICFEATURE$ at 46%, compared with 34% and 38% for patients with glaucomas in pseudophakia and aphakia, respectively.	has_symptom
+20c7439fb7e568ebc55b301172b03d78fed68656	Intraocular neovascularization leads to @PHENOTYPICFEATURE$ in many eye diseases, including diabetic retinopathy, age-related macular degeneration, and @DISEASE$.	has_symptom
+7cda5ef396271d33cbdbb59aeedf6674fe8b09b0	Progression of lens opacities, chronic macular edema, vitreous hemorrhage, macular traction, and @DISEASE$ were the main causes of @PHENOTYPICFEATURE$ in this series.	has_symptom
+652bb7aa99f7260a9a041b15dd2d38e2f431e262	Progression of @PHENOTYPICFEATURE$, chronic macular edema, vitreous hemorrhage, macular traction, and @DISEASE$ were the main causes of visual loss in this series.	false
+dc0f5c398c779f01ba324fc7e89b60f56d1c2d2d	Progression of @PHENOTYPICFEATURE$, chronic @DISEASE$, vitreous hemorrhage, macular traction, and neovascular glaucoma were the main causes of visual loss in this series.	false
+fc8d2006d5bbb5a351c9c2d13b1afdbafcc9dfa3	Progression of @PHENOTYPICFEATURE$, chronic macular edema, vitreous hemorrhage, macular traction, and neovascular glaucoma were the main causes of @DISEASE$ in this series.	false
+5c5aff0fb80410f05cecb60f854ce27d5b94035a	Cystoid macular edema, vitreous hemorrhage, tractional retinal detachment, and @DISEASE$ can cause profound @PHENOTYPICFEATURE$.	has_symptom
+d9c61b9d879ba0b5e8d782ef9bfb008ee782b9c2	The two major negative outcomes are @DISEASE$ (NVG) and severe central @PHENOTYPICFEATURE$.	has_symptom
+d801a470a64b6392e163ef558e5c716b1c95b031	@PHENOTYPICFEATURE$ in HOOE was caused by posterior subcapsular cataract and retinal neovascularizations leading to vitreous haemorrhages and @DISEASE$.	has_symptom
+c26021395ce1cc2130d5949176d26d3b81e5566a	The authors report a patient who presented with rapid @PHENOTYPICFEATURE$ due to hyphema, rubeosis iridis, @DISEASE$ and vitreous hemorrhage secondary to orbital diffuse large B-cell lymphoma.	has_symptom
+375f2679c0303a50b45b580e0ee5e65870ad4601	The prognosis is poor due to irreversible @PHENOTYPICFEATURE$ and the development of @DISEASE$ (NVG).	has_symptom
+d02c9a8c0a559e92f63cc2ceaea314c8e5b0a913	This patient presented with rapid @PHENOTYPICFEATURE$ and on examination had a rubeosis iridis with a hyphema as well as @DISEASE$ with vitreous hemorrhage.	has_symptom
+4c59bfca38f83a9b4bd72b03d7e55a60b39126a5	Fifteen patients experienced clinically significant @PHENOTYPICFEATURE$; no patients were diagnosed with @DISEASE$, and 1 patient developed a clinically significant radiation-associated cataract.	has_symptom
+9a6d22d86ce5b5ab7520b520aa1844fe41b37032	Fifteen patients experienced clinically significant @DISEASE$; no patients were diagnosed with neovascular glaucoma, and 1 patient developed a clinically significant radiation-associated @PHENOTYPICFEATURE$.	false
+b920de8d023c54c5b33c4072764a54e0d022b047	Fifteen patients experienced clinically significant visual loss; no patients were diagnosed with @DISEASE$, and 1 patient developed a clinically significant radiation-associated @PHENOTYPICFEATURE$.	false
+8e9ca3bae5bca3e9187f96f2a86145219e7b600b	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), @PHENOTYPICFEATURE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	has_symptom
+ba7cdfb9ac9278ee23ca706dfd3c25e4125c334d	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile @PHENOTYPICFEATURE$ epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+0b01289bf3c4696aae0c61b92b75d3266802e49e	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), @DISEASE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile @PHENOTYPICFEATURE$ epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+d9497bea52f14840b84a896fb5a918ebe07ae076	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified @PHENOTYPICFEATURE$ (12%).	false
+4e3bf7979ee639c7be3e78b1b8914a8ea1d97777	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @PHENOTYPICFEATURE$ (7%), @DISEASE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+aeceb817fba95a4ebe041d3559fb77c7806f6307	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), @DISEASE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type @PHENOTYPICFEATURE$ (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+7c207d0d763bc85a93374c7be6b20dfe6def65d3	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @PHENOTYPICFEATURE$ (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+d6eb68856adfef81a85a546ec9709a071e17e808	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type @PHENOTYPICFEATURE$ (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+c5c075e07040175a52085da4e46d02598efe368e	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), @DISEASE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified @PHENOTYPICFEATURE$ (12%).	false
+546506bed40567afcac422f9861c360a7c5cfdc7	@DISEASE$ should be considered in any child with cleft palate, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, @PHENOTYPICFEATURE$ and/or conotruncal cardiac anomalies.	has_symptom
+55416afaba0b39db654483bb3d36e2d1f258bb3b	Velocardiofacial syndrome should be considered in any child with @PHENOTYPICFEATURE$, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, @DISEASE$ and/or conotruncal cardiac anomalies.	false
+2a427148bde0cc1b970053ace509e098edbc6274	@DISEASE$ should be considered in any child with cleft palate, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, facial dysmorphism and/or conotruncal @PHENOTYPICFEATURE$.	false
+9fae1c7070dd0aa35f587af240f37a1ae9f2a13b	Velocardiofacial syndrome should be considered in any child with cleft palate, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, @DISEASE$ and/or conotruncal @PHENOTYPICFEATURE$.	false
+2d43cea7ddfa8c019481fcf6b5511a31f783cea7	@DISEASE$ should be considered in any child with @PHENOTYPICFEATURE$, velopharyngeal insufficiency and/or hypernasal speech, and notably in children with nasal regurgitation of food in the first year of life, poor growth, developmental problems, facial dysmorphism and/or conotruncal cardiac anomalies.	false
+5223717ced64fe1fb4f5671e5e1ab4f5a9c6595d	@DISEASE$ (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as @PHENOTYPICFEATURE$, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty.	has_symptom
+7eb10b13441bb4d76f28783ef9ee30279ba04a85	@DISEASE$ (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, @PHENOTYPICFEATURE$, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty.	false
+8d5dc1d3712b3a9508e83a102519bc4db899a58c	Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as @DISEASE$, @PHENOTYPICFEATURE$, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty.	false
+423092e580331933abdbd3094beabd7bb531755e	@DISEASE$ is classically characterized by clefting of the secondary palate, cardiac defects, learning disabilities, and @PHENOTYPICFEATURE$.	has_symptom
+aeec00b12fe82a68174a6ecbe92b72784d3cd736	@DISEASE$ represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with @PHENOTYPICFEATURE$, optic atrophy and respiratory problems leading to ventilator-dependence.	has_symptom
+47f162004193be77c12d2df2ac45f9f60560006e	Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and @DISEASE$, often with ataxia, @PHENOTYPICFEATURE$ and respiratory problems leading to ventilator-dependence.	false
+348b96f06b8e313c12b1ed5112599bf648c4fdac	@DISEASE$ represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, @PHENOTYPICFEATURE$ and respiratory problems leading to ventilator-dependence.	false
+44ab00373436daa128cf88688e2097fbe4cbd66c	Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with @DISEASE$, @PHENOTYPICFEATURE$ and respiratory problems leading to ventilator-dependence.	false
+3a717124e4667e5f30c523668cba267bdf45073d	Successful treatment of a genetic childhood @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+94892bebe199cf49fb171dbc18be74ab02054b16	@DISEASE$ should be considered early in the diagnostic evaluation as a treatable form of @PHENOTYPICFEATURE$ in children, even if patients lack typical features.	has_symptom
+f2484ec71e217b4ac835c1f7680ac116e6eb3c66	We report the findings in two male infants with fatal congenital generalized @DISEASE$ (CGMF) who presented with multiple dermal and @PHENOTYPICFEATURE$ at birth.	has_symptom
+90256ba86cbdfe417432b1e949ad44efe69e833e	The role of four candidate genes implicated in ocular development or @PHENOTYPICFEATURE$, PAX6, PITX2, MYOC, and CYP1B1, was studied in 15 patients with @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+539212ad133df0d09377eb7c9fc14c6f1ac01a69	About 17% of @DISEASE$ patients present with very early onset severe @PHENOTYPICFEATURE$ with high mortality.	has_symptom
+af6053ad5bcf78f51dbe50c4bf57ddedafe25ce8	About 17% of @DISEASE$ patients present with very early @PHENOTYPICFEATURE$ severe colitis with high mortality.	false
+312baa92dd525bca27b2103ec5537bd658840f24	About 17% of xIAP-deficient patients present with very early onset @PHENOTYPICFEATURE$ @DISEASE$ with high mortality.	false
+089844d5dc11c293e58a5f68505f4b07dfa72739	About 17% of @DISEASE$ patients present with very early onset @PHENOTYPICFEATURE$ colitis with high mortality.	false
+4ec8c983af82a3e695616ce5ffb73f7071c0d804	About 17% of xIAP-deficient patients present with very early @PHENOTYPICFEATURE$ severe @DISEASE$ with high mortality.	false
+c65ecf8c5118b4dff849301a54571883764386e5	The parental consanguinity, @PHENOTYPICFEATURE$ and dysmorphic features prompted a search for possible @DISEASE$ (FA).	has_symptom
+a8db59f1907aec4194b13f25e5e438d6522eaad3	@DISEASE$ (FA) is a recessively inherited disease characterized by multiple symptoms including @PHENOTYPICFEATURE$, skeletal abnormalities, and bone marrow failure.	has_symptom
+2bc125fefdefd19994d2313577dd5f05d8fc725d	Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including @DISEASE$, @PHENOTYPICFEATURE$, and bone marrow failure.	false
+488292774ded8fab31f24421ab0a162759f8a99b	@DISEASE$ (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, @PHENOTYPICFEATURE$, and bone marrow failure.	false
+92be3b1cd209c9d17c4da3963f4e17017e54512d	Fanconi anemia (FA) is a recessively @DISEASE$ characterized by multiple symptoms including growth retardation, @PHENOTYPICFEATURE$, and bone marrow failure.	false
+ee71c41df889267eb0e7d0fcf14562f35aef6107	Targeted disruption of exons 1 to 6 of the @DISEASE$ group A gene leads to @PHENOTYPICFEATURE$, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.	has_symptom
+4f02a40df686f010cf8037f83e807f9a74af5305	Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to @DISEASE$, strain-specific @PHENOTYPICFEATURE$, meiotic defects and primordial germ cell hypoplasia.	false
+111d5fac59bc19c1124920910b450ff7c6a395a2	Targeted disruption of exons 1 to 6 of the @DISEASE$ group A gene leads to growth retardation, strain-specific @PHENOTYPICFEATURE$, meiotic defects and primordial germ cell hypoplasia.	false
+0e0d02c8d34c145ed4d9f028529b76fe9101142d	@DISEASE$ can be associated with @PHENOTYPICFEATURE$.	has_symptom
+67320d235782558cc7eda0085876e670191b3044	@DISEASE$ (FA) is an autosomal recessive disease featuring a great diversity of clinical symptoms, including congenital malformation, @PHENOTYPICFEATURE$ and bone marrow failure.	has_symptom
+9daab3eb4f4b4332ac54aaabd85f9dd504d70c13	@DISEASE$ (FA) is a rare recessive disease that reflects the cellular and phenotypic consequences of genetic instability: @PHENOTYPICFEATURE$, congenital malformations, bone marrow failure, high risk of neoplasia, and premature aging.	has_symptom
+d15e748f5f87a74c2c783962b78aba355030734f	@DISEASE$ (FA) is a rare recessive disease that reflects the cellular and phenotypic consequences of genetic instability: growth retardation, congenital malformations, bone marrow failure, high risk of @PHENOTYPICFEATURE$, and premature aging.	false
+b1e6705b6473afc550273e3712bceb8a0171b0d4	Fanconi anemia (FA) is a rare recessive disease that reflects the cellular and phenotypic consequences of genetic instability: growth retardation, @DISEASE$, bone marrow failure, high risk of @PHENOTYPICFEATURE$, and premature aging.	false
+ff1f12ca765f48aaec3af8ec83d806d8ab71cceb	Fanconi anemia (FA) is a rare recessive disease that reflects the cellular and phenotypic consequences of genetic instability: @DISEASE$, congenital malformations, bone marrow failure, high risk of @PHENOTYPICFEATURE$, and premature aging.	false
+1f0d6c063de386a3754ac6859dc4235ce6532b40	@DISEASE$ is a rare inherited disease characterized by congenital anomalies, @PHENOTYPICFEATURE$, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas.	has_symptom
+d448946ddd373c3c38e4f4a4c38baa8b567deca3	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4bce6edad8de9a2ab5c83a534804ca0775a9133c	It concerns a child of 12 years, diagnosed as having congenital suprabulbar paresis (@DISEASE$) who presents with severe developmental @PHENOTYPICFEATURE$; his speech is unintelligible, with hypernasality and glottalised articulation.	has_symptom
+20a4a9e0989dfe7f26ebc4ad4ce46a506511d710	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or @DISEASE$.	has_symptom
+d2fdc0379cde61932fb74527d64a358b304eb0a5	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, @DISEASE$, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+5f45467ca836f076c4cee8e40def71beb68a5d67	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+cb61424bc3cacd0d6f51bf16efd6d331d8c584b0	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @DISEASE$, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+077dc59a05363ebe80d0229a621103e0e8bf7a68	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+232a99b520c7ea86f86ba7728510ad4ed78bbd67	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+f1f13a02e8719b19e4670fecdda73819ed2fba88	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+63fd01dea5f8ff0f53edaa2bdce0a1baf3f527ea	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or @DISEASE$.	false
+d578898c652fdc4a3ce758969acf79eff555a01d	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+2e10972b89bb49d126af68162026205c9ccd89b1	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+78aecaf325c72166e0435dc4ad9f779236bc647a	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or @DISEASE$.	false
+f29dbb55b9e952df8bdfdc822204a0479fead85e	The syndrome of @DISEASE$ in some one of its various forms should be suspected when an infant or child has failure to thrive, metabolic acidosis, constipation, diarrhea, @PHENOTYPICFEATURE$, anorexia, polyuria, or dehydration in infancy.	has_symptom
+75425ab574ecc2611e37f49715fb3abfe54bfcca	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	has_symptom
+a30bd3536f276f868f916e78272b2b66df9342d8	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, @DISEASE$ retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+9a43902957dec8e53b1df8728aa9eb99a628d951	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and @DISEASE$ has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+7a097e9131833893b4773ff393dc24e3881a99ac	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+a99b392ae7439f170c6ea975ce2f0506fa1a4590	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, @DISEASE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+7a42f8b1bac83abb9aabfdb28258ef3fa3bd1d3f	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	false
+b648774620f9f9f8228c1fc0d433b5050b5c44df	The @DISEASE$ (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+26ecacaf07a686f74385a3d877a53e6b08e9c2a4	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and @DISEASE$ has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+0dbfbbc1964d8d9a31b13bca0c95a98e50f1cccd	The Bardet-Biedl syndrome (@DISEASE$), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+c1e03401fe3afe1551b4ff60740600af9cd747ac	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+9e6ed63f108f0af98cb0e36ec01331e7287ec270	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+d7bfe0811939e9f12103e4e8495d872b39eb4886	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary @DISEASE$ and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+92dfeeb5ac513be057a83cfce2a7ba0462f4e6ff	The Bardet-Biedl syndrome (@DISEASE$), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+4f7400f87f24901f5e827dc7b2b63966689c095f	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, @DISEASE$ retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+a8d0c08fded5366b8ff75b6cd4ee6fd007c8754a	The @DISEASE$ (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+b47fea9a4c3b19f0b9d5a8d1c1bc2dacac602bd3	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	false
+3cb3ee38e0bf0444960dcc382dcc5021c31856f0	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary @DISEASE$ and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+58a4544069c2f2c870956792fa86231553a8fba8	The features of @DISEASE$ vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia.	has_symptom
+b9e10103feba6c897cc343db9d1badd230ba4b17	The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to @DISEASE$; the dominant one is progressive neurological involvement, @PHENOTYPICFEATURE$ and spastic paraplegia.	false
+8daae0fb2bafd47faf1f7105b7fcc5f89b531c72	The features of Laurence-Moon syndrome vary widely from @DISEASE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @PHENOTYPICFEATURE$ and spastic paraplegia.	false
+e4214fba035ca5ae249201fef78a21055ca52377	The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @PHENOTYPICFEATURE$ and spastic @DISEASE$.	false
+aab0aa9bf4c442443d4ef2ceb6d50c68df698f2b	The features of @DISEASE$ vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @PHENOTYPICFEATURE$ and spastic paraplegia.	false
+cc28130d810914727f8a577e468aab072231a6fe	Muckle and @DISEASE$ is revealed by episodes of @PHENOTYPICFEATURE$ with urticaria and arthralgia, complicated by deafness and amyloidosis.	has_symptom
+96a6fa47bbb56367160bf6b05d14d0df026c5d25	Muckle and Wells syndrome is revealed by episodes of @DISEASE$ with urticaria and arthralgia, complicated by @PHENOTYPICFEATURE$ and amyloidosis.	false
+c9cc36a5909919c4994fc2e2f68a3f90fba0c150	Muckle and Wells syndrome is revealed by episodes of fever with @DISEASE$ and arthralgia, complicated by @PHENOTYPICFEATURE$ and amyloidosis.	false
+31846010f149f4cb79362348de096cbb52b62feb	Muckle and @DISEASE$ is revealed by episodes of fever with urticaria and arthralgia, complicated by @PHENOTYPICFEATURE$ and amyloidosis.	false
+55613da225ba38fc79ee601de65f94c2fc8e7b7a	Muckle and Wells syndrome is revealed by episodes of fever with urticaria and arthralgia, complicated by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ee1a98e5c5dc40de7b150f34e2541bd3e5afe697	Endocrinological examination excluded @DISEASE$, and the patient was not receiving any drugs that could cause @PHENOTYPICFEATURE$.	has_symptom
+552ed154e4f1ae480f44288889b417a6a3971c3d	A 76-year-old Japanese woman had suffered from fatigue, weight loss, and @PHENOTYPICFEATURE$ at the age of 38 years and was diagnosed as having tuberculous @DISEASE$.	has_symptom
+8d515b0d2d9cfb50b124b8d0c220138dc92a7fd5	We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with @DISEASE$ after having myalgia, @PHENOTYPICFEATURE$, weight loss, sweating, and nausea for the past few weeks.	has_symptom
+69925170493fb1a275a0cd2a8c87d23205ead264	We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with @DISEASE$ after having myalgia, skin hyperpigmentation, @PHENOTYPICFEATURE$, sweating, and nausea for the past few weeks.	false
+83ebf53ed843379559644cae5ed82d6190035670	We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with Addison's disease after having myalgia, @DISEASE$, @PHENOTYPICFEATURE$, sweating, and nausea for the past few weeks.	false
+230e6a2b59c85c0efbd530696ee1a52f23653418	@DISEASE$, polyglandular autoimmune syndrome type II, and @PHENOTYPICFEATURE$ are reviewed.	has_symptom
+5098b9b7ddf6db40841fce059e65e59d2993cb0c	Primary adrenal insufficiency (@DISEASE$) may initially present with @PHENOTYPICFEATURE$.	has_symptom
+ee885b7fe8d0890a7b696d07aad83374d84e9591	The histopathological features of @PHENOTYPICFEATURE$ in @DISEASE$ have very occasionally been reported, and they include acanthosis, hyperkeratosis, focal parakeratosis, spongiosis, superficial perivascular lymphocytic infiltrate, basal melanin hyperpigmentation, and superficial dermal melanophages.	has_symptom
+3a06ef79fc3889c9ae8bb9807b27d333b9f74eaa	The histopathological features of cutaneous hyperpigmentation in @DISEASE$ have very occasionally been reported, and they include acanthosis, @PHENOTYPICFEATURE$, focal parakeratosis, spongiosis, superficial perivascular lymphocytic infiltrate, basal melanin hyperpigmentation, and superficial dermal melanophages.	false
+ed3b06750eef9f09430a4a4703f3b5b18a0a3aa0	The histopathological features of @DISEASE$ in Addison disease have very occasionally been reported, and they include acanthosis, @PHENOTYPICFEATURE$, focal parakeratosis, spongiosis, superficial perivascular lymphocytic infiltrate, basal melanin hyperpigmentation, and superficial dermal melanophages.	false
+79c97011bdedd3e6e304092c447fd329970d673f	Generalized oral and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2de8165b528fc6a09a797dde3d2bcd9d59553db2	@DISEASE$ is due to an insufficiency of corticosuprarrenal hormones to maintain the peripheral needs and its clinical sign is a constitutional syndrome with @PHENOTYPICFEATURE$ and low blood pre-assure.	has_symptom
+fa745472a5074d8ad06a3f98d87407bdd70e5731	A 60-year-old man with @DISEASE$, primary hypothyroidism and type 2 diabetes mellitus who was treated with stable doses of hydrocortisone and fludrocortisone developed @PHENOTYPICFEATURE$ and a bitemporal hemianopia.	has_symptom
+0a0e64c01b23bf4cb34611d14dab92d126f5da08	Classically, patients affected with @DISEASE$ develop weakness, anorexia, electrolyte imbalances: decreased sodium and chloride with increased serum potassium resulting in hypotension, and @PHENOTYPICFEATURE$ and mucous membranes.	has_symptom
+ac72d39f3e371c3fd81b74cc0a206abb989605b1	We report a rare case of a patient of @DISEASE$ having @PHENOTYPICFEATURE$ born to nonconsanguineous married parents.	has_symptom
+6c86fd177e52a5a5b597a9df47cfb339e0ebc0de	A case is reported of tractional retinal detachment in a patient with retinitis pigmentosa and @PHENOTYPICFEATURE$, which was diagnosed as @DISEASE$.	has_symptom
+0220a3c6e3919fd80715b4e81986a6470e95a258	@DISEASE$ (USH3A) is an autosomal recessive disorder caused by mutations in clarin-1 (CLRN1) gene, leading to progressive retinal degeneration and @PHENOTYPICFEATURE$.	has_symptom
+97047b3866b9213370cf1526cefaca1f94764846	Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, and variable vestibular deficit; @DISEASE$ is the most common form.	has_symptom
+aa565d08fcbdb333b54612eadd02294dc247bf03	@DISEASE$ is an autosomal recessive disorder characterized by progressive @PHENOTYPICFEATURE$, vestibular dysfunction, and retinitis pigmentosa.	has_symptom
+b6e61f5c430fad3de7dd7b078b32616f6ffce17b	Usher syndrome type III is an autosomal recessive disorder characterized by progressive @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+4d5375f93c83ba75171a4f79cafa46c692065ac6	@DISEASE$ is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+e8185e4278e712b99fd6d9395d171f359172f289	Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+52c71dc3d317f4ee7e696275f03a4cfdd398bc1a	Among children with the most severe presentation of Marfan syndrome (@DISEASE$), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, @PHENOTYPICFEATURE$ is the leading cause of death.	has_symptom
+9a92f8c256d732011928ed543d8b5fae5c158e85	Among children with the most severe presentation of @DISEASE$ (MFS), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, @PHENOTYPICFEATURE$ is the leading cause of death.	has_symptom
+3a4063448eb7a29e4be6312f7e4ecb534183fadb	Congestive @PHENOTYPICFEATURE$ and aortic dissection in a young man with @DISEASE$.	has_symptom
+27790f8225d16cedb7305ff7b213491913dab569	Further studies are mandatory to elucidate whether TD velocities predict arrhythmia and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+4d8c4243463d3b14f99726199a97cd8792e62df7	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$ due to primary or secondary cardiomyopathy.	has_symptom
+f2227ea3af78dcf3952d9ac26d0d8c441874baaa	LV end-diastolic pressure was elevated, and EF and @DISEASE$ were reduced in patients with AR and @PHENOTYPICFEATURE$ (CHF).	has_symptom
+cb0f67e8b831b63861ccde4972944b3629f29780	[Neonatal @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+bf7a58f17d760771f9b000b240899e84a6ad346c	We report a successful orthotopic heart transplantation for a @DISEASE$ patient in end-stage @PHENOTYPICFEATURE$.	has_symptom
+0b12b0b619a3965dff71155004d97d4acf54695e	We report of a 20-year-old @DISEASE$ patient presenting with severe aortic regurgitation and severe @PHENOTYPICFEATURE$.	has_symptom
+dd781e0481e17bbfb806212abd613f9933e91b1a	Shortening of growing-rod spinal instrumentation reverses @PHENOTYPICFEATURE$ in child with @DISEASE$ and scoliosis.	has_symptom
+3c119906d3962445700d86ec77bcf45cf4399632	In this review, we focus on aortic involvement seen in pediatric patients with @DISEASE$, ranging from aortic dilatation to aortic rupture and @PHENOTYPICFEATURE$.	has_symptom
+601fa309cf46d457334c38b47f34cf00a2edfc34	Restless leg syndrome is a treatable cause of @PHENOTYPICFEATURE$ and fatigue in @DISEASE$.	has_symptom
+3bacf848011402f30bd02775413e2aea49bbea28	This includes the association of @PHENOTYPICFEATURE$ with hepatitis C and antiviral therapy, @DISEASE$, and Wilson disease as well as the circadian rhythm abnormalities present in cirrhosis and hepatic encephalopathy.	has_symptom
+dad8396e18bf9e7cb8043ba4814ccc8b5cf8a5f8	@DISEASE$ (PBC) is associated with fatigue, memory impairment, and @PHENOTYPICFEATURE$.	has_symptom
+50db535b266cc88e5a6a9ba3981c9a7c8e69596d	Primary biliary cirrhosis (PBC) is associated with fatigue, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0015fded8256aa845a424f39fcf3add8285609e0	@DISEASE$ (PBC) is associated with fatigue, @PHENOTYPICFEATURE$, and sleep disturbances.	false
+92e6b479b92c4b177bc6066d3330a835f39a4703	In a case of 46-year-old woman suffering from schizophrenia for over 20 years, she experienced frequent episodes of @PHENOTYPICFEATURE$ and confirmed as superimposed with @DISEASE$ (MG).	has_symptom
+0dca81aa3a9b807278a985d9a09fb35db245953d	Novel mutations of MYO15A associated with profound @PHENOTYPICFEATURE$ in consanguineous families and moderately severe hearing loss in a patient with @DISEASE$.	has_symptom
+a0d452fa913a497f300e730182c583ab5d2ddee5	@DISEASE$ is increasingly being recognised as presenting with atypical presentation like short stature, @PHENOTYPICFEATURE$, unexplained anaemia, rickets, abdominal distension and abdominal pain.	has_symptom
+30d96230f5ed94623797fb2b79a969fa75fdac0b	Coeliac disease is increasingly being recognised as presenting with atypical presentation like short stature, failure to thrive, unexplained @DISEASE$, rickets, abdominal distension and @PHENOTYPICFEATURE$.	false
+8e3511a9e9427638346562f64f61d49aab610f39	Coeliac disease is increasingly being recognised as presenting with atypical presentation like @PHENOTYPICFEATURE$, @DISEASE$, unexplained anaemia, rickets, abdominal distension and abdominal pain.	false
+c6c206b81699a5a13fe78ae97fe5fd1013644561	Coeliac disease is increasingly being recognised as presenting with atypical presentation like @PHENOTYPICFEATURE$, failure to thrive, unexplained @DISEASE$, rickets, abdominal distension and abdominal pain.	false
+a82e4e921ce300a6b12de69c05c973da4f06dd12	Coeliac disease is increasingly being recognised as presenting with atypical presentation like short stature, @DISEASE$, unexplained anaemia, rickets, abdominal distension and @PHENOTYPICFEATURE$.	false
+833b916ef46cc0e1f72f0d42acbd686bed7ee7b2	@DISEASE$ is increasingly being recognised as presenting with atypical presentation like @PHENOTYPICFEATURE$, failure to thrive, unexplained anaemia, rickets, abdominal distension and abdominal pain.	false
+6034970a1904f24f082493ac293153409daaaeaf	@DISEASE$ is increasingly being recognised as presenting with atypical presentation like short stature, failure to thrive, unexplained anaemia, rickets, abdominal distension and @PHENOTYPICFEATURE$.	false
+7edd82028bd73ec29883b16e3157a457cd3c53af	Although the typical form of @DISEASE$, characterized by @PHENOTYPICFEATURE$, is still the most frequent presentation in the pediatric age group, severe growth delay is less commonly seen in developed countries.	has_symptom
+47b33f1a97280e6595f10e00f63efc03486dcc59	@DISEASE$ is an important cause of chronic diarrhea, @PHENOTYPICFEATURE$, and anemia in children.	has_symptom
+e7fde553fd63cf4a3b0ed4f05089dc5683bf54b8	@DISEASE$ is a well-known disorder, characterised by enteropathy and malabsorption causing symptoms such as vomiting, diarrhoea and @PHENOTYPICFEATURE$.	has_symptom
+78dcef0ba730504c7b4eeb261fe0d419b9a90ef9	@DISEASE$ was diagnosed in 42 (16.6%) of 246 children with chronic diarrhoea, @PHENOTYPICFEATURE$, and anaemia.	has_symptom
+01cfffff5546ff72a72bdef541f1ed73d7b40a66	@DISEASE$ is a systemic immune mediated disease which usually presents with gastrointestinal symptoms, but it may present with extra gastrointestinal manifestations such as metabolic bone disease and @PHENOTYPICFEATURE$.	has_symptom
+7c507472ff51a722b1dba2315da627ec3d9a5b6a	@DISEASE$ in children with persistent diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+258a39d9503e7ab4413d1e515d3f99f90af5aee9	@DISEASE$ is an important cause of chronic diarrhoea, @PHENOTYPICFEATURE$, and anaemia in children.	has_symptom
+47d7f260fda693c47aeb224da49976e088625101	We characterized a novel balanced t(9;22)(p21;q11.2) translocation in a patient with melanoma, DNA repair deficiency, and features of @DISEASE$ including @PHENOTYPICFEATURE$ and malformed inner ears.	has_symptom
+0b3a2d0c72402984a1e44b5f78d6ad105eed8f92	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with @DISEASE$, and one with hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome.	has_symptom
+723bc69a5dfc3eb2dad0c9b8ec8cfbff9c644322	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis @DISEASE$ (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+d70962a0a495f953c651df5dd3c097fe41eceeb1	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with @DISEASE$, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+9ebb047051caa1999e15aa7fa233d64528ba8951	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) @DISEASE$, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+1bb43274f7b2aa96b70258a44e18175678a965a9	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy @DISEASE$ ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+961d4d859bc0d8e0844b3f1e852f9880984e3437	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-@DISEASE$-renal dysplasia syndrome.	false
+30878305659300f0e5ae974ed4146a3f4e65eef0	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic @DISEASE$ including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+f6e824c563bf076916636427bc277590b8b1636c	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with @DISEASE$ hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+49a7c795a15424f8e1e544cb8c50b27f0b5fe0c9	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia @DISEASE$.	false
+544a12a31ec3d381a2f9c2598d301dd65a5464e8	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-@DISEASE$ syndrome.	false
+242ad98262a221990659bc1b9ec19d8a3ade98bf	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with @DISEASE$ candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+aa4546db40511dd00f3bc077febfe3c4529f65be	Combined with clinical data, 26 (15.0%) cases of @DISEASE$ (OMIM #188400), nine (5.2%) autoimmune polyglandular syndrome type 1 (OMIM #240300), eight (4.6%) autosomal dominant hypocalcemia type 1 (OMIM #601198), four (2.3%) hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (OMIM #146255), and one (0.6%) Kenny-Caffey syndrome type 2 (OMIM #127000) were verified.	has_symptom
+579c904fa56a51187ccbec13734425240531813f	An HDR (hypoparathyroidism, @PHENOTYPICFEATURE$, renal dysplasia) syndrome locus maps distal to the @DISEASE$ region on 10p13/14.	has_symptom
+f4aa1560aaaeb74aea5229922523ce3351c55202	The most common LSD associated with a @PHENOTYPICFEATURE$ was @DISEASE$ (NPC), followed by several types of neuronal ceroid lipofuscinosis (NCL) and different mucopolysaccharidoses.	has_symptom
+7f2c00daeec933236ba462defad1d1c36523fb2d	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @PHENOTYPICFEATURE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	has_symptom
+ac43749e471bcfa3d517ee5bfd59c488abe501a7	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+15b615acd42958ca8db566eb6f21dfc5a1b1128c	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @DISEASE$ (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+5373d64a56cd03d3fa5d9900405d70caad1f08be	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, @DISEASE$, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+5705f7cc4d58569f925cc79dde21983bf6700648	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+df844524a2a1a9bb0b86727ac4d5e432f39002ec	@DISEASE$ (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+2ef1f77a5029950a075dcdb9fc07ad99788ce89a	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various @DISEASE$ (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+d7d96b696fb946f4882b5d23cd79c14b52fe0d4c	Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, @DISEASE$, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and @PHENOTYPICFEATURE$.	false
+359405cc2578fdfe22a1a950892a8eb349ee1d18	Niemann-Pick disease type C (@DISEASE$) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (@PHENOTYPICFEATURE$, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures.	false
+51d291648151261d0f0f0cd0e305ed50e79158de	We report on an 8 1/2-year-old boy with @DISEASE$ and cystic kidney disease, congenital heart disease, @PHENOTYPICFEATURE$, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, vertebral anomalies, and upper airway obstruction.	has_symptom
+b72d816a8ad305144f6d6d07ea41ff043c4e29ba	We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and @DISEASE$, congenital heart disease, hydrocephalus, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, @PHENOTYPICFEATURE$, and upper airway obstruction.	false
+f5b499b3b72860daee4d6349df3436e8c5da4aa6	We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and cystic kidney disease, congenital heart disease, @DISEASE$, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, @PHENOTYPICFEATURE$, and upper airway obstruction.	false
+53d488d8902681c0b7cc1abd3212fc8b1bc0d865	We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and cystic kidney disease, @DISEASE$, hydrocephalus, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, @PHENOTYPICFEATURE$, and upper airway obstruction.	false
+ee00a7d034de3d8bf284f2f499c7c0b707687fb7	We report on an 8 1/2-year-old boy with @DISEASE$ and cystic kidney disease, congenital heart disease, hydrocephalus, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, @PHENOTYPICFEATURE$, and upper airway obstruction.	false
+77ca6c9f32fc19aca190e3f88e5190c62783cfa4	We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and cystic kidney disease, congenital heart disease, hydrocephalus, @DISEASE$, hydrosyringomyelia, club feet, splenomegaly, hypospadias, @PHENOTYPICFEATURE$, and upper airway obstruction.	false
+0b240298864d4e2635da1c7aba68f6093f48e9b3	@DISEASE$: infantile onset of @PHENOTYPICFEATURE$ and serpentine fibulae.	has_symptom
+f642c11deca8af0ee11dfd7d7c88101580a2f122	Telomere defects contribute to the pathogenesis of two progeroid disorders characterized by premature @PHENOTYPICFEATURE$, @DISEASE$ and dyskeratosis congenital.	has_symptom
+6dd2e7a27f68b1329346a582ab5702c344afe4ce	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	has_symptom
+613cc9d43cfa021fda317cdd2260d36531d1b29b	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+5621a27381cf3e43a5c246aeac824ef54eaa2397	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+783abdd3e58161c86b205c8246d1940bec4ba440	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+465996fafbfdef03db1c83506157b86438f71487	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @DISEASE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+af3174f80dd616077d9635b608d57460b69b2ec3	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @DISEASE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+b2a1e1842644f53cff9f65668ef5be85719e7f4d	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+830a00babf8cab760a642c7caf1a17b136ef4dd8	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+bfe65c0e6e0edee98fd4e8529813e132c2c07d68	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+6ac3e9c8d538790fe61006e23d897cc1635e5775	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+c42f0b92da97d58c90b2cbdccac6dd0831d47321	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+18140febd42570b9fb2b18a855615b7aa48bdf39	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @DISEASE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+6b1b895fc6f20a1503614f16b3ad9c8925cb10a3	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+8f8cb20187d7a6a7b7eeb3482f713feece944c45	The rates of steroid-dependency was 37.0% (97/262) in 262 patients with a history of steroid use and the rate of thiopurines ineffectiveness was 26.9% (79/294) in 294 patients with a history of thiopurines-use; (2) Univariate analysis showed that disease location (L3 type), @PHENOTYPICFEATURE$, diarrhea, fever, abdominal tenderness, perianal lesion, steroid use, AZA/6-MP use, leucocyte, hemoglobin (Hb), platelet level and high-sensitivity C-reactive protein (HsCRP) were significantly different between refractory and non-@DISEASE$ patients (all P < 0.05) .	has_symptom
+bcda3ccc0e63125439031fc9e9e5fe073400a7df	The rates of steroid-dependency was 37.0% (97/262) in 262 patients with a history of steroid use and the rate of thiopurines ineffectiveness was 26.9% (79/294) in 294 patients with a history of thiopurines-use; (2) Univariate analysis showed that disease location (L3 type), abdominal pain, diarrhea, @PHENOTYPICFEATURE$, abdominal tenderness, perianal lesion, steroid use, AZA/6-MP use, leucocyte, hemoglobin (Hb), platelet level and high-sensitivity C-reactive protein (HsCRP) were significantly different between refractory and non-@DISEASE$ patients (all P < 0.05) .	false
+6b5677653c7749bbd5d8c3e945997655417ad5ca	The rates of steroid-dependency was 37.0% (97/262) in 262 patients with a history of steroid use and the rate of thiopurines ineffectiveness was 26.9% (79/294) in 294 patients with a history of thiopurines-use; (2) Univariate analysis showed that disease location (L3 type), @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, abdominal tenderness, perianal lesion, steroid use, AZA/6-MP use, leucocyte, hemoglobin (Hb), platelet level and high-sensitivity C-reactive protein (HsCRP) were significantly different between refractory and non-refractory CD patients (all P < 0.05) .	false
+c4613b80ad05fb1d828d4357dd6f8415834c2e4d	The rates of steroid-dependency was 37.0% (97/262) in 262 patients with a history of steroid use and the rate of thiopurines ineffectiveness was 26.9% (79/294) in 294 patients with a history of thiopurines-use; (2) Univariate analysis showed that disease location (L3 type), abdominal pain, @DISEASE$, @PHENOTYPICFEATURE$, abdominal tenderness, perianal lesion, steroid use, AZA/6-MP use, leucocyte, hemoglobin (Hb), platelet level and high-sensitivity C-reactive protein (HsCRP) were significantly different between refractory and non-refractory CD patients (all P < 0.05) .	false
+afe4918ae291d1e8f0682ef70e18ae557ed2bcd1	Severe @DISEASE$ @PHENOTYPICFEATURE$.	false
+f462bf29170cc9d1fc3c2991479dc59c5a5cba2d	The neurologic manifestations of the patients with the @DISEASE$ were very heterogeneous: two patients had psychomotor retardation with spastic movement, one was @PHENOTYPICFEATURE$ with generalized dystonia and one patient only had gout with no neurologic manifestations.	has_symptom
+177a925e849ec647df103e47cf984c3af6289ae7	The neurologic manifestations of the patients with the @DISEASE$ were very heterogeneous: two patients had psychomotor retardation with @PHENOTYPICFEATURE$ movement, one was mentally retarded with generalized dystonia and one patient only had gout with no neurologic manifestations.	false
+8699ca0d11288c7376cdc27e4ce933aee25a73c0	The neurologic manifestations of the patients with the Kelley-Seegmiller syndrome were very heterogeneous: two patients had psychomotor retardation with @PHENOTYPICFEATURE$ movement, one was @DISEASE$ with generalized dystonia and one patient only had gout with no neurologic manifestations.	false
+bd8698d7abeedf705b618c8631a5aa1705048110	The neurologic manifestations of the patients with the Kelley-Seegmiller syndrome were very heterogeneous: two patients had psychomotor retardation with @PHENOTYPICFEATURE$ movement, one was mentally retarded with @DISEASE$ and one patient only had gout with no neurologic manifestations.	false
+5211a679f2e576e9eb1843e524e0da82f47cd1e8	Three affected children (a 13-year-old girl and her 7- and 8-year-old brothers) in a sibship of eight had findings consistent with the @DISEASE$ (skeletal dysplasia associated with Leber's congenital amaurosis, familial @PHENOTYPICFEATURE$, and cone-shaped epiphyses of the hands).	has_symptom
+3e57b66d12efb066c378d4e1616bc1ea4e82244b	Three affected children (a 13-year-old girl and her 7- and 8-year-old brothers) in a sibship of eight had findings consistent with the Saldino-Mainzer syndrome (@PHENOTYPICFEATURE$ associated with Leber's congenital amaurosis, familial @DISEASE$, and cone-shaped epiphyses of the hands).	false
+7fa57f48051319d1c83f221b389b01c55822ff6f	Three affected children (a 13-year-old girl and her 7- and 8-year-old brothers) in a sibship of eight had findings consistent with the @DISEASE$ (@PHENOTYPICFEATURE$ associated with Leber's congenital amaurosis, familial juvenile nephronophthisis, and cone-shaped epiphyses of the hands).	false
+b4baffd5a2b69617653b4daaa3f1ad09eb50361b	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and @DISEASE$ (AOA2).	has_symptom
+1edaba96d67f1632a202297ddc608e6f69de47d9	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @DISEASE$ @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+7b0146a15f4d5edf75d1116771000d9005a5ad5a	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and @DISEASE$ (AOA2).	false
+be66a92b42de893b8151b8d9c8e3614f64a78286	These include ataxia telangiectasia (A-T); @DISEASE$ (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+d8014e62893afb3bb599747e88e6d62286f68931	These include @DISEASE$ (A-T); ataxia telangiectasia like disorder (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+157a374a73fd8b6220c4687aa9c362a8aca57d45	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (@DISEASE$); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+7d50bf470675ee0bebe8f44cc749f0b1e714331e	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+aaec28acbec3adcb5fccfd705843fe6a1a1fc561	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+5ac53196eb5d878d920742124031025a85e009ba	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+8b9df27a69b385aca003246d7d2fe91d9fd24892	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+b1b04cd8b272a13690fac416407870268c988a59	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @DISEASE$ with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+58d39eeb531533730ba7280aeba12c51f1612a0d	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, @DISEASE$, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+4ac4319b30825853cf52acf51d07da44ccab2827	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @DISEASE$, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+726f8aff73a5b0f4574e575b9815b6d1f2d4e256	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+998ffa2d6774170248f598139cd2d77a7f58cc81	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @DISEASE$, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+e8eaaddfa839c05863d1f5e6b756fea38d97158a	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, @DISEASE$, chorea, choreoathetosis, myoclonus).	false
+92ebbea7d1c9629f93a73086ae827cdfd8ee4b2e	(1)H MR spectroscopy in Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7359c8cce656e73ccb567c834397e0794c93a828	Friedreich's @PHENOTYPICFEATURE$ (FRDA) and @DISEASE$ (AOA2) are the two most frequent forms of autosomal recessive cerebellar ataxias.	has_symptom
+28dcb9d1dbc6759f3b6aeb67c38c20f9699fd68e	@DISEASE$ (AOA2) is one of the most frequent types of autosomal degenerative @PHENOTYPICFEATURE$.	has_symptom
+987e538fa22f0ba85be6d433508b4f6d055c0c18	@DISEASE$ (AOA2) is an autosomal recessive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and oculomotor apraxia.	has_symptom
+ca790e4e7f74532d802dbb3c1e0a29c9f1ee9979	The five most common ARCA in this cohort were Friedreich @PHENOTYPICFEATURE$, ataxia with isolated vitamin E deficiency, @DISEASE$, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1.	has_symptom
+a5ec2f696fc435f6bfbec63acfb6b6bbf0c4091d	These include @PHENOTYPICFEATURE$ with oculomotor apraxia type1 (AOA1), @DISEASE$ (AOA2) and ataxia-telangiectasia-like disease (ATLD).	has_symptom
+4842f748aa2a5c9a2751355e6c07daf3645920f0	The most prevalent diseases were: Friedreich's @PHENOTYPICFEATURE$ in 35% (n?=?7), Niemann-Pick type C (NPC) in 15% (n?=?3), and @DISEASE$ in 15% (n?=?3).	has_symptom
+3faa7341726d1ab7992e0e3011cc7670e0ddd6db	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of @PHENOTYPICFEATURE$ with oculomotor apraxia and neuropathy with onset of ataxia between the first and second decade of life.	has_symptom
+4c99aff047b135b204dd43293f0716a49c59e6e3	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of ataxia with oculomotor apraxia and neuropathy with onset of @PHENOTYPICFEATURE$ between the first and second decade of life.	has_symptom
+cba094e18dcb4fd9c4fc3a237cf08d874c3176de	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of ataxia with @PHENOTYPICFEATURE$ and neuropathy with onset of @DISEASE$ between the first and second decade of life.	false
+15f7afddecce5bc9d2b631b278f9bb021b764c31	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of @DISEASE$ with @PHENOTYPICFEATURE$ and neuropathy with onset of ataxia between the first and second decade of life.	false
+552117874b22f34de89a7ab1e7c4d8dbbc7740bc	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of ataxia with @PHENOTYPICFEATURE$ and neuropathy with onset of ataxia between the first and second decade of life.	false
+ea815ac7aa86e37b9095373b1c29a61b1ba48b8f	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of ataxia with @PHENOTYPICFEATURE$ and @DISEASE$ with onset of ataxia between the first and second decade of life.	false
+7062e8975da4c7f08abcfedae4f46a6f4c80ff18	The third case of renal involvement in @DISEASE$ is presented here, with special emphasis on early diagnosis and management of @PHENOTYPICFEATURE$.	has_symptom
+c10c60199f743eacc181da2a73e598b10daf414b	@DISEASE$ associated with bilateral @PHENOTYPICFEATURE$.	has_symptom
+62ce5f9e44d21929845b6385034e7f3d2df03197	Sydenham chorea (SC) is the classical poststreptococcal movement and @PHENOTYPICFEATURE$, and may be associated with other features of @DISEASE$.	has_symptom
+974549c7f14fbc651c6c39008a2a966ef34bc73c	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+fea7a10080cfad9fb1b80c9c35891397dc9dc88f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+dac7489a843d0ca24db83f35affb5093efcfc6a5	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+19b4a2f9ee76becd64b80dcba0f63b2a3b4593f3	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+336ef8a443129b42a61ab2d64597aadaeacdebc9	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+a6cffcddf838bb176e660c6c6d21b45738706759	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+da68ecc327f7465db1554b3ef3641bb63d8ef119	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+1b9a2f98d5f34dd4afd813cbb8f513ed90fe5850	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+711c6cc698f1d50c2dfe1b67ae9003dbd7af692f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+0fa332ac3a238f848632ad1cfc83027039d1a38d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+d8b9d4e0cc146273a59f8a399ffeb0ed38baf3b4	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3ab26b2e3d68f3a7f504cba34363659a1e4f4c76	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+bbf2d1234123155da1bb2b650cf58244e7e8f77f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+e9cb9722c55058b19af223f1df5bd63af492ca17	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5c764caefaf508a2f457594bba319c22bd8be6d9	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b0be8f5df9cb498a5b6b7783c6d2fc9b18edd364	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+363718c123f93a2a25d8c205454b7cca81f0bb80	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @DISEASE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+1da5c675ddf414f62aaa31fd6b22e6dabc315851	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+aba87a6fd1434f39e3c52983350abf38323ddfc7	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+6675d24447e9325f5dd4dee93a1bee69d3dd32a3	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @DISEASE$, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+b9c73915612849cc092a234c174b6189e2bd5657	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+93edb6eaff2330fa45e044b28b6f37a29356f9f5	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d2664b1c34552e625b4b76ecf1144fe3b35b75f0	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, @DISEASE$, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d3022be9835c318e2b0e9801d56198259c9dba8b	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+ee95a6d0738586542efb1aedabfe2554dd34f5e7	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+548cc059929f1aad0a776da76354cbc3d60006d3	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d0e17586316677438b6912a2dd9aac494d3fdaef	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+792228053059b9f1811361f20104f938a847b857	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+7cfab04357e7f04b4c27d675b07684d34377080b	Development of Respiratory Allergies, @PHENOTYPICFEATURE$ and Allergic Rhinits in Children with @DISEASE$.	has_symptom
+e046590087d2c7e4824d87e0862f885f9c69bdf7	@PHENOTYPICFEATURE$ and @DISEASE$ in children born moderately and late preterm.	has_symptom
+d96f4b850204963d863527c10d984edab058d1a5	Farm exposures may protect against childhood @PHENOTYPICFEATURE$, hay fever and @DISEASE$.	has_symptom
+de158f2b6989f7593a4a1a01ac582c6b3af4d453	@PHENOTYPICFEATURE$ was diagnosed in 28.1% of children with @DISEASE$ and 14% of children without eczema (P = .03;	has_symptom
+ca78c808863e2e774974341702f81b1c7fef323e	@PHENOTYPICFEATURE$ was diagnosed in 28.1% of children with eczema and 14% of children without @DISEASE$ (P = .03;	has_symptom
+22a9b1462f9b539bc426fc546e65c79587eca106	@PHENOTYPICFEATURE$ and eczema (@DISEASE$) are the most common chronic diseases of childhood.	has_symptom
+daeb3b994865f9dfc90c6331e22efb7f2189a912	@PHENOTYPICFEATURE$ and @DISEASE$ (atopic dermatitis) are the most common chronic diseases of childhood.	has_symptom
+6a2cab1dfab8b6df30d313452ffdc822c9f8d73f	@PHENOTYPICFEATURE$ and @DISEASE$ are both regarded as atopic diseases.	has_symptom
+3e66888350d1ffc1432215a1fdab9b96f9d8b438	@PHENOTYPICFEATURE$ and @DISEASE$ also reduce the chance of glioma.	has_symptom
+26b8b31973990f0d67c2d47a1e0c34aaf0c45bb6	@PHENOTYPICFEATURE$ and @DISEASE$ are common childhood diseases requiring long-term treatment.	has_symptom
+5b08bd91d37ce8e37478330c387b938579598737	@PHENOTYPICFEATURE$ and @DISEASE$ were diagnosed longitudinally by strictly adhering to predefined algorithms.	has_symptom
+7d842a40a87942923d18c1f5f80afe9a2ce6bc3c	@PHENOTYPICFEATURE$ and @DISEASE$ were assessed by questionnaire at these 3 points.	has_symptom
+6339218c9151b4d65905a4b7f9e3cef9238ebc54	@DISEASE$ (IP) is an X-linked dominant disorder characterized by @PHENOTYPICFEATURE$, retinal detachment, anodontia, alopecia, nail dystrophy and central nervous system defects.	has_symptom
+b06db52a7d8a65350efc7e3261942606e45f88a0	Unexplained aplastic anaemia, immunodeficiency, and @PHENOTYPICFEATURE$ (@DISEASE$) due to mutations in the dyskeratosis congenita gene, DKC1.	has_symptom
+8db8631d067b829f05eec17faf979db72d8e89f0	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	has_symptom
+0c433d502cc4f0d15d64f61a3e20b19e937cb9eb	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+634f3054bb7d9209436720710162ac88d35d2da4	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, and extremely short telomeres.	false
+93acb214e2a6a3be3f3a606714a1d813d43ad15b	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+cd9f4340fa3788d96d94f21eaf23de42e35870f3	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, @DISEASE$, and extremely short telomeres.	false
+c544495240f0a878b64d6000027e14d6dce57a8c	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	false
+644a11fb5921bae1fde6b0b068842f094b7ca7bb	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	has_symptom
+aa3bde8d15415cc5416a720f32f59bbee5b28b73	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, and severe immunodeficiency in addition to features of DC.	false
+a1702ef2345753863c51c9bd1008f8abaf8883b7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @DISEASE$, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+11aecb5b3168355ec14a9b55f69f37790587d465	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+bdae71b7c7c3f0677fe6e3aab383e840cdd5f3f7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+d35c1e5c008806c57d41f8bdab3010ffb22992bd	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe @DISEASE$ in addition to features of DC.	false
+f80373c11866daf3d3c6d5e2e74c4108fdf3d962	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+d096974b1eac33841daa0785cd03b4fa7316289e	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+beaecc1c073f9507d20bec7a3e42fa5c7d56e5f9	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @PHENOTYPICFEATURE$, @DISEASE$, and growth retardation.	false
+1dbadc3115467656f41c7fa3e6acafc37248902a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	false
+6294c29a401d216dbe0918493eaf4e25470f485a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+7257d4ccbdc3d420cd1c285bf672386a8d1d8251	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	false
+8b7a88ffcd5380dc26b7a7852bbe11b176c780ed	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+1dc080bc6de322effd13a98523c08eff908bd813	The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes @PHENOTYPICFEATURE$, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	has_symptom
+216860014335f4d527115fdd1432d3ee209002a7	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe @DISEASE$, enteropathy, and intrauterine growth retardation.	false
+b1da4c39b092ea7e9a55adacd6d11c76faee709b	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe @DISEASE$, enteropathy, and intrauterine growth retardation.	false
+48c6767d92baf047da866419c80a17493006d12f	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes @DISEASE$, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+6a3beba9a81b1d14928bca5594e718e391f41b11	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+43ba22b7672d8c047075d8fd2924ba02a4fbdf66	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and @DISEASE$ is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+0b575fb657b6181330bdaefd48a4edb218595dcf	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and @DISEASE$.	false
+768856a84f43b8567fd2fcb533094df3ec600278	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+3e42dcd5d29ea979ff0c40d0ccf581aaca730894	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes @DISEASE$, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+792773449a9c5a71a16d0ee4a201d62adfafdd32	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and @DISEASE$ is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+4dbad87b354996b98bf2593907c2443667ce59f8	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and @DISEASE$.	false
+e28fc8f7c7db5fead5edfa65a086beee08daed7c	The @DISEASE$: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and @PHENOTYPICFEATURE$.	has_symptom
+3419e0c531bc8d8db45e4c5ef2be716c1a99d9ee	@DISEASE$ (HH) is a clinically severe variant of DC in which patients also have @PHENOTYPICFEATURE$ and may present with severe immunodeficiency and enteropathy.	has_symptom
+462c011ec6bfbd434e6c5170d27ba42cef8d8aeb	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes @PHENOTYPICFEATURE$, immunodeficiency, and intrauterine growth retardation.	has_symptom
+dcec1bc19b0111163d3378f81e1a7720fc6defb1	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and @DISEASE$.	false
+e37bb329c56a239c557bb15c5e5440741b53eed8	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes @DISEASE$, immunodeficiency, and intrauterine growth retardation.	false
+c3e38e6a9f709d1b7d87809a5713ec9945d413c3	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+0846e477156774b0535e3b0dada3f590d5607734	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes @DISEASE$, immunodeficiency, and intrauterine growth retardation.	false
+f760549e469d85fe55bd3ad0a916145a01912a65	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and @DISEASE$; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+00530ef433f774ffef278062acb5212326b7304d	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, @DISEASE$, and intrauterine growth retardation.	false
+487c67c6dfcc059f2b1efa92f99e3444ce65e9ac	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+caab066b0860fb27fb86c31e8dc8a45839197baa	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and @DISEASE$; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+a93aafa748f3c3488bd7440ea4a3eadcf92311fd	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and @DISEASE$.	false
+24fc3de9369b90ccb0fe2815058a316e8483b92b	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, @DISEASE$, and intrauterine growth retardation.	false
+4b5ffeecb1e59b7f2d83a1e4d1ba413a94dfa278	@DISEASE$: presenting as advanced breast cancer in a young woman with @PHENOTYPICFEATURE$.	has_symptom
+a4bed39a710c0909bfb8c6f5ad099c62ebedd33d	Cowden syndrome or @DISEASE$, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and @PHENOTYPICFEATURE$.	has_symptom
+b1f60adb5513cfd8ec9b648bfdc289555469b36b	@DISEASE$ or multiple hamartoma syndrome, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and @PHENOTYPICFEATURE$.	has_symptom
+bc69ddac1fc985e89cf390b7fc59856940399db9	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	has_symptom
+6d92f69c12ce4dad2e899eb49e2a20eae7728556	Two unrelated patients with @DISEASE$, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+77d09409243d6fbefcd47fda344b74bbbf3a3da8	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+b03af606f6d21eced3377881500b081b2767d7fc	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	false
+d520fbe9abbeb921f925d61e71bfa7744cb41c7a	Two unrelated patients with @DISEASE$, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+ed0d55e9f89cf79c43b449a55bcf5fd9e7daa7d9	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a @DISEASE$ (Lhermitte-Duclos disease).	false
+5af7d213aa09393a0011959318fad891d33b95ff	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+c3cbd8b0447e062453618122ba9899d6b5ea71bf	All patients with renal cell carcinoma had dermatologic manifestations of @DISEASE$ and had @PHENOTYPICFEATURE$.	has_symptom
+775ba09e71bd0b1b2eeda5673e9af7f08b426e61	He was also found to have @PHENOTYPICFEATURE$, freckling of his glans and foreskin and an enlarged nodular goitre and the geneticist diagnosed @DISEASE$.	has_symptom
+c278317b5adc162a0c1cc79427ee9f0baba86973	@DISEASE$: report of a large family with @PHENOTYPICFEATURE$ and increased severity of signs in subsequent generations.	has_symptom
+89613f6170e76ab62ce5799b98283f4ff9ccf5ff	We present a case of @DISEASE$ in a mother and her son, who were diagnosed with palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$ and goitre.	has_symptom
+80a125dffed97a9e80005e25dd8359054268b732	We present a case of Cowden syndrome in a mother and her son, who were diagnosed with @PHENOTYPICFEATURE$, @DISEASE$ and goitre.	false
+a9396f0909ba2f1794cec9ab69ee9a2838b21c1e	We present a case of Cowden syndrome in a mother and her son, who were diagnosed with @PHENOTYPICFEATURE$, macrocephaly and @DISEASE$.	false
+f3834da3392caa413e385b79237608402dcc42e6	We present a case of @DISEASE$ in a mother and her son, who were diagnosed with @PHENOTYPICFEATURE$, macrocephaly and goitre.	false
+2810962acc31fe9f8890076416a2fe37dda0a2e6	However, germline mutations can determine @DISEASE$ and, as more recently ascertained, syndromes clinically characterized by autism associated with @PHENOTYPICFEATURE$.	has_symptom
+a7997d694efff66466b2c900629b704c83e9ed50	However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+756e7ceb40ffde5f5054a799b00d4dd5ebc3ea49	However, germline mutations can determine @DISEASE$ and, as more recently ascertained, syndromes clinically characterized by @PHENOTYPICFEATURE$ associated with macrocephaly.	false
+29afbda9d200e5863b84a1047bfb724d77261581	Germline PTEN mutations result in cancer predisposition, @PHENOTYPICFEATURE$ and benign hamartomas in many tissues, including @DISEASE$, a cerebellar growth disorder.	has_symptom
+792f4489f31ba0d43839c165a11e8a9cfc6aaa17	@DISEASE$ (CS) is an autosomal dominant disorder characterised by @PHENOTYPICFEATURE$, specific mucocutaneous features and predisposition to benign and malignant tumours.	has_symptom
+7a397f20f65d1fcc1153ba06ea3d0c1374ff456f	Cowden syndrome (CS) is an autosomal dominant disorder characterised by macrocephaly, specific mucocutaneous features and predisposition to benign and @DISEASE$ @PHENOTYPICFEATURE$.	false
+de5f835403ab5a6cf13bc1c1238b7d9719c47d0e	@DISEASE$ (CS) is an autosomal dominant disorder characterised by macrocephaly, specific mucocutaneous features and predisposition to benign and malignant @PHENOTYPICFEATURE$.	false
+33ccf233bc9adb2e27b0dc50fabfd888f565aa61	Cowden syndrome (CS) is an autosomal dominant disorder characterised by @DISEASE$, specific mucocutaneous features and predisposition to benign and malignant @PHENOTYPICFEATURE$.	false
+638df5551f37b0a845bc716b0f5638ed093967a0	Mitochondrial recessive ataxia syndrome (@DISEASE$) is a common cause of autosomal recessive juvenile- or adult-onset @PHENOTYPICFEATURE$, at least in Scandinavia.	has_symptom
+0948294eca5453cd1538843359d2ba27646e15fa	Early-onset @PHENOTYPICFEATURE$ with progressive external ophthalmoplegia associated with POLG mutation: autosomal @DISEASE$ or SANDO?	has_symptom
+91f294c99cc535cef867969cfc99dfb3c1b66235	Commonly reported findings in addition to those of @DISEASE$ include metopic craniosynostosis, @PHENOTYPICFEATURE$, intellectual disability, and minor facial anomalies.	has_symptom
+644cefb78862f996a42933bacfd5db1b0d6d229d	Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, hydrocephalus, @PHENOTYPICFEATURE$, and minor @DISEASE$ anomalies.	false
+f6a91956a7f4bd577bd0ba48db9571814fef05ee	Commonly reported findings in addition to those of @DISEASE$ include metopic craniosynostosis, hydrocephalus, @PHENOTYPICFEATURE$, and minor facial anomalies.	false
+6cdd70b2971572ec2fff700e4de0e096b1cf1279	Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and minor facial anomalies.	false
+1bed7b2fbfe345f98a239161dd5f144732a583a7	Commonly reported findings in addition to those of Gorlin syndrome include metopic @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, and minor facial anomalies.	false
+83f93646ca5513063b28ddaa2ced7b0609b62ebd	Intracranial lipomas, @PHENOTYPICFEATURE$ and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-@DISEASE$).	has_symptom
+01d157bcdaf797842007e2cd2c580f3235fc9f67	@DISEASE$ and congenital @PHENOTYPICFEATURE$.	has_symptom
+e2fb5d09bee1a8b417a82d5a39acea1b4aaa784d	Peripheral @PHENOTYPICFEATURE$, typically greater than two standard deviations from the normal population, is often seen in association with @DISEASE$.	has_symptom
+ce1fce78569ed1d8fb3fb0beaa3a75dd21023db4	A 14-month-old female with @DISEASE$ was referred to the pediatric department with high fever (41.6 degrees C), watery diarrhea, and @PHENOTYPICFEATURE$.	has_symptom
+baa5e1032cd35e728d9a62a69cee1e414c16816c	The purpose of this study was to determine whether carbidopa (Lodosyn), an inhibitor of dopa-decarboxylase that blocks the synthesis of dopamine outside the brain, is an effective antiemetic in patients with @DISEASE$ (FD) and hyperdopaminergic nausea/retching/@PHENOTYPICFEATURE$ attacks.	has_symptom
+806888a6715a8c292d0fab3d708f924463ba7653	@DISEASE$ patients have recurrent crises characterized by bouts of nausea, @PHENOTYPICFEATURE$, hypertension, tachycardia, sweating, blotching and personality changes.	has_symptom
+3009c1e229aba2765d694d851ee236d1381104c4	@DISEASE$ (FD), a rare genetic disorder, is characterized by autonomic instability, pulmonary infections, oesophageal dysmotility, spinal abnormalities and episodic "dysautonomic crisis" characterized by rash, @PHENOTYPICFEATURE$, sweating and hypertension.	has_symptom
+065a5a90009439143d8931188bd73166cce5bf6b	@DISEASE$ (HL) is a rare malignancy which often presents with lymphadenopathy and classic "B symptoms" of weight loss, @PHENOTYPICFEATURE$, and night sweats.	has_symptom
+39145603ab5c58cd8575b798aaaac9499ef23d0d	@DISEASE$ (HD) is a common malignant lymphoma that classically presents with painless lymphadenopathy, weight loss, nocturnal sweats, @PHENOTYPICFEATURE$, and generalized pruritus.	has_symptom
+985c82c5a72f6e4d06ea5164c2ac685a4c5a6e8f	@DISEASE$ (HD) is a common malignant lymphoma that classically presents with painless lymphadenopathy, @PHENOTYPICFEATURE$, nocturnal sweats, fever, and generalized pruritus.	false
+11e47530e743335845461c41e39e9b6ab2ae641a	Hodgkin's disease (HD) is a common malignant lymphoma that classically presents with painless lymphadenopathy, @PHENOTYPICFEATURE$, nocturnal sweats, @DISEASE$, and generalized pruritus.	false
+81821b0934666a2ab7e2c1ac301d9e5434aae264	Hodgkin's disease (HD) is a common @DISEASE$ that classically presents with painless lymphadenopathy, @PHENOTYPICFEATURE$, nocturnal sweats, fever, and generalized pruritus.	false
+ace83e6e87f700cec0018a552b53c1bae374fe1c	Patients with @DISEASE$ typically present with painless peripheral adenopathy, @PHENOTYPICFEATURE$, night sweats, and weight loss.	has_symptom
+97d658cda3e0e944c139f251420770a2a9124811	A 42-year-old woman with a remote history of @DISEASE$ (treated with irradiation) and thyroid carcinoma, both of which were in remission, presented to the Emergency Department with @PHENOTYPICFEATURE$, abdominal pain, and diarrhea.	has_symptom
+e5f545f71eb78266dc3fa1e7bc7c53e64b657ae1	A 42-year-old woman with a remote history of Hodgkin's lymphoma (treated with irradiation) and thyroid carcinoma, both of which were in remission, presented to the Emergency Department with fever, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a8eb646be0df7fe41fb5b4b4d031f9810bb148a6	A 42-year-old woman with a remote history of Hodgkin's lymphoma (treated with irradiation) and thyroid carcinoma, both of which were in remission, presented to the Emergency Department with @DISEASE$, @PHENOTYPICFEATURE$, and diarrhea.	false
+e3d17bf94c686a053c428e914f23c388e6237345	A 42-year-old woman with a remote history of Hodgkin's lymphoma (treated with irradiation) and @DISEASE$, both of which were in remission, presented to the Emergency Department with fever, @PHENOTYPICFEATURE$, and diarrhea.	false
+7a1ccaea2049175977cd6ba5a650de388288ece8	A 42-year-old woman with a remote history of @DISEASE$ (treated with irradiation) and thyroid carcinoma, both of which were in remission, presented to the Emergency Department with fever, @PHENOTYPICFEATURE$, and diarrhea.	false
+f6563265c30271a2ab035cbb2596343b38fc7e97	We report an unusual case of a 70-year-old man with a diagnosis of @DISEASE$, who presented with @PHENOTYPICFEATURE$ and liver dysfunction.	has_symptom
+8f519a10a7cbc6f6eba68e68681c931bed137379	Clinical signs of @DISEASE$ are unexplained weight loss, nocturnal sweating, @PHENOTYPICFEATURE$ and more or less permanent itching or pain around the affected lymphnodes, especially after alcohol consumption.	has_symptom
+858bc887a73ee3e82726f2c8b4159fd4951d6941	We report a rare case of a patient that presented with @PHENOTYPICFEATURE$ and pancytopenia due to HPS associated with @DISEASE$ (HL).	has_symptom
+0c4d69e6dc82c83c2f9f441a6203f783a8f28302	The case involved a 10-year-old patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$, neutropenia, and shock and was found to have a pericardial effusion with tamponade after evaluation.	has_symptom
+d80cee8fa526fa2c0cd1e5f6898258d16f75cf80	GH insufficiency, hypocortisolemia, and abnormal cranial MRI appear to be associated with @DISEASE$ and may contribute in part to the @PHENOTYPICFEATURE$.	has_symptom
+6b4b7d5377edb595be60349aab238f0c4dcdb9e7	Recently, stiff skin syndrome (@DISEASE$) and a group of syndromes known collectively as the acromelic dysplasias, which typically result in @PHENOTYPICFEATURE$, skin thickening and joint stiffness, have been linked to FBN1 mutations that affect specific domains of the fibrillin-1 protein.	has_symptom
+af9c5159d2c3c9166a382de0efeb9c065cbb7da6	Spondylocarpotarsal synostosis syndrome (@DISEASE$) is an autosomal recessive condition which is characterized by @PHENOTYPICFEATURE$, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly.	has_symptom
+0d74995654b3cde7f01238f421e2ccbdf78ff7e5	@DISEASE$ I syndrome and @PHENOTYPICFEATURE$.	has_symptom
+edaf2e2f1b6be5d3cc2365092b489e16632323f4	Also identified were two genes expressed in photoreceptors that are candidate disease genes for recessive @DISEASE$ (BBS3) and recessive @PHENOTYPICFEATURE$ with RP (AXPC1).	has_symptom
+9fb65e064c2c2a09d4dffb8b7a9d6495015fc8cd	Symptoms of @DISEASE$ include constipation, @PHENOTYPICFEATURE$, abdominal distension and growth failure.	has_symptom
+7b8df64c3e86ed0373c8aff9cb34b39e9eb98721	The suspicion of @DISEASE$ (HD) or Neurointestinal Dysplasia (NID) arises with the appearance of a common symtomatology : delay in meconium evacuation, abdominal distention, @PHENOTYPICFEATURE$, intestinal occlusion and ultimately, chronic constipation.	has_symptom
+b59ff85116e49addcc997fb6fca1e5de7ec8fc2a	Furthermore, de novo heterozygous constitutional pathogenic variants of WAC have recently been shown to cause a syndromic form of @PHENOTYPICFEATURE$, @DISEASE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+dbf1929a35ca84c412eb7e24e3ad7a05144e2d44	Neuropathological features of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+0a5e6ba5b616b49037d0d35ed44100d3a6cc8d27	Brain structural profile of @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+9f2e8b9cade10a55a824ea90d6f5b2bca46f3e6b	@PHENOTYPICFEATURE$ in @DISEASE$: Changing concepts.	has_symptom
+2377ddb7240653b2c79ccbed4b2d5f76beaf17a6	Corpus callosal involvement is correlated with @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7f73dd6e3b15968cc80ca951247fa81c07113e80	@PHENOTYPICFEATURE$ in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS @DISEASE$ (MODIMSA) study group.	has_symptom
+fb9bce3665ca1edaeb912ee4a4c6d587dd408538	@PHENOTYPICFEATURE$ in @DISEASE$: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group.	has_symptom
+b2ab1eb119dbcc0442e91ce706d1943324f44223	@PHENOTYPICFEATURE$ is common in Chinese @DISEASE$ patients.	has_symptom
+7c077a11b7b1acabfb6e9066809e5c96f7fa1904	@DISEASE$ with early @PHENOTYPICFEATURE$: a case report.	has_symptom
+48954176ff796c5e6d8a0c6a61ada6aba9e19ca4	@PHENOTYPICFEATURE$ in @DISEASE$ correlate with frontal atrophy and disease duration.	has_symptom
+454f3efd5f34469c439994632b596a41e6a992ae	Altered resting-state voxel-level whole-brain functional connectivity in @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+aa866cd24fa2ac6692e7f2a143e8ca29f4c0b672	A few months later, she presented with early morning @PHENOTYPICFEATURE$, polyarthritis involving the small joints of the hands, and strongly positive rheumatoid factor, fulfilling the diagnostic criteria of @DISEASE$ (RA).	has_symptom
+7c24b9f5c072e320c301e3ebc680a8b103a383c0	In addition, disease may arise from long-standing @DISEASE$, osteoporosis, corticosteroid therapy, @PHENOTYPICFEATURE$ or contracture, or the correction of angular deformity.	has_symptom
+dd12ef69b53a1d2a1e0c69d58dd79a92ea033ca9	In addition, disease may arise from long-standing rheumatoid arthritis, osteoporosis, corticosteroid therapy, @DISEASE$ or @PHENOTYPICFEATURE$, or the correction of angular deformity.	false
+6851c5f2abcedfbce55bb5a7544c411d2a775ceb	In addition, disease may arise from long-standing @DISEASE$, osteoporosis, corticosteroid therapy, joint stiffness or @PHENOTYPICFEATURE$, or the correction of angular deformity.	false
+96f1b0f62356331802c057097ebe43f3b937ee88	This review summarizes evidence that disruptions in these pathways are involved in human cognitive disorders, including neurofibromatosis type I, Coffin-Lowry syndrome, Rubinstein-Taybi syndrome, Rett syndrome, @DISEASE$, Down syndrome, X-linked alpha-thalassemia/@PHENOTYPICFEATURE$, cretinism, Huntington disease, and lead poisoning.	has_symptom
+7726fd8e2838057da7afe50e07ce0161cee9b815	At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex @PHENOTYPICFEATURE$, microcephaly and pheochromocytoma in a patient with @DISEASE$ type I born from consanguineous parents might be a new association.	has_symptom
+0c2d0ead2dd4482edaabb9c050358b7566908e9b	At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex @DISEASE$, @PHENOTYPICFEATURE$ and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+a5c7fe5c797802f4b57456aa59aad5f3c2e6a781	At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, @PHENOTYPICFEATURE$ and pheochromocytoma in a patient with @DISEASE$ type I born from consanguineous parents might be a new association.	false
+36f21f8708c37b065394b335bfb036c65cda8033	At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and @DISEASE$ and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, @PHENOTYPICFEATURE$ and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+3c9f249791471f17477376edf1da698ab9f7fbb0	At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, @PHENOTYPICFEATURE$ and @DISEASE$ in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+a4864376b0271668ad0752da981e6140012bf859	At physical examination she had @PHENOTYPICFEATURE$ (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, @DISEASE$ and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+08616b477779c46de3d2120d256b0f3d7603c549	At physical examination she had @PHENOTYPICFEATURE$ (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and @DISEASE$ in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+26c7e8babf382500d7a689288467d322a06804fe	At physical examination she had @PHENOTYPICFEATURE$ (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with @DISEASE$ type I born from consanguineous parents might be a new association.	false
+f793c86fee8cf95ac4598b3f87f0f561293fbea7	At physical examination she had @PHENOTYPICFEATURE$ (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex @DISEASE$, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+5b54f95c1267c1bd15bf38b023e6346ac72dd72e	At physical examination she had @PHENOTYPICFEATURE$ (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and @DISEASE$ and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+76b77e6bab702d1f07726765a4ffe0ec55b0f855	At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, @DISEASE$ and toes and scoliosis and 6 "caf?-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, @PHENOTYPICFEATURE$ and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.	false
+9aae54ac2c779f4f9ad4db8d86216a2357845d80	@PHENOTYPICFEATURE$ are potentially important features of @DISEASE$ (NF), but they are rarely discussed in this regard.	has_symptom
+f215a808da23adb8d31d32c58e292ad573b22149	@DISEASE$, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, @PHENOTYPICFEATURE$, facial dysmorphism, short stature, skin abnormalities and a predisposition for malignancy.	has_symptom
+89d3f9cbd82fe65ac12566a73ec1e870d78e4277	@DISEASE$, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, @PHENOTYPICFEATURE$, short stature, skin abnormalities and a predisposition for malignancy.	false
+a871a99368727e6766cbec5f591168edad5c5350	@DISEASE$, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, facial dysmorphism, @PHENOTYPICFEATURE$, skin abnormalities and a predisposition for malignancy.	false
+4b55ee49f34c8532f57295d7234d1460f746dbff	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, @PHENOTYPICFEATURE$, short stature, skin abnormalities and a predisposition for @DISEASE$.	false
+f24845292e7d6f014ee56610b51ed0536c8eabd1	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, facial dysmorphism, @PHENOTYPICFEATURE$, skin abnormalities and a predisposition for @DISEASE$.	false
+b0736b4f4aa80a4b68807e3b3752ca87daddcead	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, @DISEASE$, @PHENOTYPICFEATURE$, short stature, skin abnormalities and a predisposition for malignancy.	false
+4d531c1f9a91e938ddd0a18f1845ee82f78bd0bc	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, skin abnormalities and a predisposition for malignancy.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+71bec02546e3f24869ceff109991a422edc386c4	Patients with @DISEASE$ have a higher incidence of anatomic @PHENOTYPICFEATURE$.	has_symptom
+c2eea89e99006395d54eb13c0a4a59c626ae57d3	A 3-year-old Chinese boy presented with prominent clinical features of @DISEASE$, including developmental delay, @PHENOTYPICFEATURE$, brain abnormalities and massive excretion of malonic acid and methylmalonic acid.	has_symptom
+ca2147176c88b4c9113bdb17491372aab21eb066	Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or @DISEASE$ (DEB), associated with skin fragility and @PHENOTYPICFEATURE$.	has_symptom
+7a325d40904b8073858e512fadf6d229a337a709	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @PHENOTYPICFEATURE$, and genitourinary anomalies.	has_symptom
+dacb197383cc9937b75c617c5fd33bf7efa13e74	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+274c8e5d02d56ac411de92a1ed96a97c418591fe	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+71a892e7e0839541ef25a6ff93f9c181dbc347a4	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+99eca64e07ec7790c0023cd1a788d72b3acf1908	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+83a6c5d8767b28493981ed4ea731ef5d74795522	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+4b25c4ee2035f7177f7ce8ebde24804f2c0f4973	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+6caf3e83aa30a5742a27cc8985ee4010086ed871	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+8ce3850503e06c1f6d73f54d8cf9e23785c77f85	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+313f67d072857d5a12e0aaa08d8495d2ee1697cb	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+b167c3fbb6196c26bb3fca1096d2f190a45c2a42	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+306fd5ae0a07e483fdea75c8f730daeda52989b1	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+51ae96958257e1c13bccc8e0344e6e1dd0bc0e19	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+79b0d4957ac892bdc16c087746681354b4bfd55b	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+bc701b14821e9ec5cbc859e9b9de5b8d7cb321a4	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+fa4266b21af336b023e15806570949445a7dba50	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+ff672bebb5ecc623b2675137fba918c4eb688859	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+7cfb70c704cbcf12532195141f8229e5fcfdcf66	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+8097c1d3c1614f3298da2ec4e573351c465f2a6a	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+a999b745cbae9a49f5defe76d451691ddcfcda74	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+4613fa6158ec1750245cc43993497b221f7a8345	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+aea949b28e45ac5acdda3b264f94b97f5d2559a7	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+77a112f665530534990a1b9b4e8075cfdb5a5875	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+94abb3c1c5535ea41bea37069ce488d92cdaac4a	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+74863c734f071e97147ad847f03a1dcf69f19b67	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+dfcfc96db93dc1779201666e703cccf67cd0eecc	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	has_symptom
+1d658147757ba2181d0ee29e3bb546b5f4e8fbe9	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+34cd5b4c9e7b85424f986107f1206f3dd21ebeb5	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$.	false
+feabc004cd1107e8a16238fddefa37b30bc4d98e	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+4d8c03a1746755f3ac7dda095f4a5ab12dc8e1ab	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and microcephaly.	false
+951fd713bf662ea4df04453e11fde46722d9d952	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+ebf77c518f47708dc42c884e654b9d97642f8208	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+60663483fff010db0697f0289a8d028f677679c6	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+1a1178b8b0e42fdef147073997ab855177c091b5	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+2da5b70df189e206a2136a1eaebe1012e0653b62	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+765883cf947d5f436e5f0d6bf64123c43c92d4d8	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+ee6b2cede7bad548aa4280bf33a3298121842f41	Developmental @PHENOTYPICFEATURE$ associated with @DISEASE$ (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.	has_symptom
+68c010136b4c2604588f9a7196f49c5d3ee9ce2b	@DISEASE$ (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental @PHENOTYPICFEATURE$, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses.	has_symptom
+51633855cbd2a932440d32c666f3d828a95f75dc	Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare @PHENOTYPICFEATURE$ that presents with mild to moderate short stature, developmental @DISEASE$, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses.	false
+8b170e37c4d59d5802d34adc6f97219faa658bbf	@DISEASE$ (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare @PHENOTYPICFEATURE$ that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses.	false
+29f63e5097a75833fadc3b9bc3e9c0f3359907b0	A review of reported cases of developmental @PHENOTYPICFEATURE$ associated with @DISEASE$ revealed that simulated corner fractures were present in most instances.	has_symptom
+f28103fa3c12a1651c10ef815ae9a077191bdbce	@PHENOTYPICFEATURE$ and disproportionate short stature in the @DISEASE$: expansion of the phenotype?	has_symptom
+53734ff4ad8a21407c33c7448bf6c4754dbb74be	@DISEASE$ and @PHENOTYPICFEATURE$ in the ear, patella, short stature syndrome: expansion of the phenotype?	false
+e676973f300009ff386d19900bed50290ba486e2	Breast hypoplasia and @PHENOTYPICFEATURE$ in the @DISEASE$: expansion of the phenotype?	false
+d880664dc8c1210c60788d07705472ab2acb20c3	Genetics of infantile @PHENOTYPICFEATURE$ with paroxysmal dyskinesia: the @DISEASE$ (ICCA) and ICCA-related syndromes.	has_symptom
+3b08749c8dc38f47153bc34a6796edfb576b12fb	Rare families with infantile @PHENOTYPICFEATURE$ and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; @DISEASE$) and a disease gene has been mapped at chromosome 16p12-q12 (ICCA region).	has_symptom
+9ba8fd2c88e8d8309c9ade63edcd71b94562561c	In 1997, description of the ICCA (@DISEASE$) syndrome and linkage to chromosome 16p12-q12 provided the first genetic evidence for common mechanisms shared by benign infantile @PHENOTYPICFEATURE$ and PD.	has_symptom
+c89af62be64018e54ef2984b1df26415c00ab2e7	We also report PRRT2 mutations in five of six (83%) families affected by @DISEASE$ (ICCA) syndrome, a familial syndrome in which infantile @PHENOTYPICFEATURE$ and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	has_symptom
+b415ad342af47f14c662608ef1cfb7f9c43b82e2	We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) @DISEASE$, a familial syndrome in which infantile seizures and an adolescent-onset @PHENOTYPICFEATURE$, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	false
+62deb65e4ffe5728fc641a04cd56406f5d830b7b	We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial @DISEASE$ in which infantile seizures and an adolescent-onset @PHENOTYPICFEATURE$, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	false
+9729aa12d38ab03cf637a145a0a2edb8815cbe05	We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile @DISEASE$ and an adolescent-onset @PHENOTYPICFEATURE$, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	false
+c167452221d11441aec731622335b12655e6c4e6	We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (@DISEASE$) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset @PHENOTYPICFEATURE$, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	false
+1c6a4ab0bae8d0e15bea626d5157594b783ef862	We also report PRRT2 mutations in five of six (83%) families affected by @DISEASE$ (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset @PHENOTYPICFEATURE$, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	false
+25bac1c08716a34e7852d873666c904807f99896	BFIS is characterized by clusters of epileptic seizures in infancy while, in some cases, infantile @PHENOTYPICFEATURE$ and adolescent-onset paroxysmal kinesigenic choreoathetosis co-occurred, which is called @DISEASE$ (ICCA) syndrome.	has_symptom
+999ca9f9bc901699db786a74536248ea28a5108b	BFIS is characterized by clusters of @PHENOTYPICFEATURE$ in infancy while, in some cases, infantile seizures and adolescent-onset paroxysmal kinesigenic choreoathetosis co-occurred, which is called @DISEASE$ (ICCA) syndrome.	has_symptom
+627bdeb030170990238d39e9219bdd0acb35e08f	Benign familial infantile seizures have been linked to chromosome 19q whereas @DISEASE$ syndrome, in which benign familial infantile @PHENOTYPICFEATURE$ is associated with paroxysmal choreoathetosis, has been linked to chromosome 16p 12-q12.	has_symptom
+2f5aaca1d677c98a1ab9652a0343a1a38028a060	A patient with subcutaneous eosinophilic lymphoid granuloma (@DISEASE$) associated with a high serum IgE level and a marked blood @PHENOTYPICFEATURE$, had a glomerulonephritis with electron dense deposits in mesangial, paramesangial, subendothelial, intramembranous and epimembranous areas.	has_symptom
+447797f0998029b9c05fd7019c82fb5cf5db7ce4	@DISEASE$ is a rare disorder of unknown etiology, characterized by the presence of benign subcutaneous granuloma, marked peripheral blood @PHENOTYPICFEATURE$ and elevation of the immunglobulin E (IgE) serum level.	has_symptom
+19d4eb487d89eeff5a3dbd52b23ef37d0c00f599	Skeletal dysplasia, intracerebral calcifications, @PHENOTYPICFEATURE$, hearing impairment, and mental retardation: nosology of @DISEASE$.	has_symptom
+efdb03578d65267f1383349c33e427cf8a1dab36	Skeletal dysplasia, intracerebral calcifications, @DISEASE$, hearing impairment, and @PHENOTYPICFEATURE$: nosology of dysosteosclerosis.	false
+53061192a6c64d6484388dff354095825b7dbf24	Skeletal dysplasia, @PHENOTYPICFEATURE$, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+e8a739bb9ab961516bc679b712c8cfda74c8c35b	Skeletal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, hearing impairment, and mental retardation: nosology of dysosteosclerosis.	false
+1d2de3f483d477ee36eaa32024879414830ec66e	Skeletal dysplasia, intracerebral calcifications, optic atrophy, @PHENOTYPICFEATURE$, and mental retardation: nosology of @DISEASE$.	false
+e94c1dee54ec47a0feca4d34282e58b74941bbe4	Skeletal dysplasia, intracerebral calcifications, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation: nosology of dysosteosclerosis.	false
+0fff12cca4d06145124eb48d5b744db8dee3eafc	@PHENOTYPICFEATURE$, intracerebral calcifications, @DISEASE$, hearing impairment, and mental retardation: nosology of dysosteosclerosis.	false
+44c1d78ae0c8bea3cea2fadc3f8254ba9b506b3a	Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and @PHENOTYPICFEATURE$: nosology of @DISEASE$.	false
+7f78c2bf70083f74d7c368e16d5befec702d26b7	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+5834ac81cb092634066540f484613813542741e1	Some mutation carriers exhibited dysmorphic features, including @PHENOTYPICFEATURE$, small mandible, syndactyly, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	has_symptom
+a10cbafc07062a45ef8435abb801b13f0d059546	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, syndactyly, clinodactyly, @PHENOTYPICFEATURE$, and @DISEASE$, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+78ae1bab3b3bf60a40122af40305dc139cebb928	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, and @DISEASE$, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+e3228d7034ffa083a112c961d770d6a63406d998	Some mutation carriers exhibited dysmorphic features, including @DISEASE$, small mandible, syndactyly, clinodactyly, @PHENOTYPICFEATURE$, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+9f39aa07e6e0c9e70966822e44e9ca9d6c48408c	Some mutation carriers exhibited dysmorphic features, including @DISEASE$, small mandible, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "Andersen syndrome."	false
+51f38aaceed511148a711cefb4b171c5faf3554b	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, syndactyly, clinodactyly, @PHENOTYPICFEATURE$, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	false
+092a53abb45e3e4ed94d7ad9c7ae484aef604309	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	false
+c51fb70a8194b832479470c7acd11169ddd0d30c	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, micrognathia and broad forehead).	has_symptom
+7a945b6f54a1f255581ff6183d87344361b5883d	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, scoliosis, clinodactyly, @DISEASE$, small or prominent low set ears, micrognathia and broad forehead).	false
+36b2ab88b09003b75c866fc9797f11eb313d8a8e	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+ceaa539415cef75bc56220e59d8301fff3c805fd	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+046c6e9872772b4283601609e4828392b390ec03	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, @DISEASE$, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	false
+95c28c3f138b46becbbec48d5e7ac655b1756f64	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	false
+ed9ab6abdfb846c7ca3075d2781ae076052ff7c1	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	false
+da7e32a0c2b990d85c68bbee1487d7c57d804c72	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+134f5995d8dcc1175a5105b2d91c456229209709	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+e32d2214faa42a0ce964ee9947546331ca40dc00	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, scoliosis, clinodactyly, @DISEASE$, small or prominent low set ears, micrognathia and broad forehead).	false
+e5d3569ee2da0c8440f1e65166c9345cb5e4eb63	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or @DISEASE$?	has_symptom
+ea7b6d3eb622d8b64139713212b67de6c2f870e7	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+b3d8cd4dafc7a937415762ba33e5c6e91be64eac	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+94f642b387320b5a41846549c887504c88a8dd0b	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+f6a11d4a34a4f4427eb11ad09aa79e0b82658b77	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+2bb5087a55b325a1fcb46d023c93078dc3718489	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and @DISEASE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+b920b3cd083b26243f8464e9fcd7d081b1e1d07e	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+8495f98abfcfa487d7be19db615bea2e3b667fa0	Mutations in SHP2 that increase its tyrosine phosphatase activity cause a @PHENOTYPICFEATURE$-related disorder, @DISEASE$.	has_symptom
+e44169ff492257afd3c6bb2238ea0fb75eb9e162	@DISEASE$ (NS) is a disorder causing symptoms like short stature, characteristic facial features, congenital heart disease, possible @PHENOTYPICFEATURE$ and pragmatic difficulties.	has_symptom
+00b8f630c250761e4e19f040962e273ba450e00b	@DISEASE$ (NS) is a disorder causing symptoms like @PHENOTYPICFEATURE$, characteristic facial features, congenital heart disease, possible mental retardation and pragmatic difficulties.	false
+1ffb269f1cb8a5ddb25b7f724cddc5cd0100c5ce	Noonan syndrome (NS) is a disorder causing symptoms like @PHENOTYPICFEATURE$, characteristic facial features, @DISEASE$, possible mental retardation and pragmatic difficulties.	false
+a917f726f57b52ee26a4fe6ff7a62a97d70daf5e	Noonan syndrome (NS) is a disorder causing symptoms like @PHENOTYPICFEATURE$, characteristic facial features, congenital heart disease, possible @DISEASE$ and pragmatic difficulties.	false
+1d04169cd6185cc61351f07abff4ef1af82646f1	@DISEASE$ (NS) and related disorders are autosomal dominant disorders characterized by heart defects, facial dysmorphism, ectodermal abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+cd3f19982c38adb369f8429710af4bc391b2968c	@DISEASE$ (NS) and related disorders are autosomal dominant disorders characterized by heart defects, @PHENOTYPICFEATURE$, ectodermal abnormalities, and mental retardation.	false
+8b2a7f85ef206ea961c7aeba1f313ac511385925	Noonan syndrome (NS) and related disorders are autosomal dominant disorders characterized by @PHENOTYPICFEATURE$, facial dysmorphism, ectodermal abnormalities, and @DISEASE$.	false
+66cd8fbcd97b949359e66fa73b493d5d95c23abc	Noonan syndrome (NS) and related disorders are autosomal dominant disorders characterized by heart defects, @PHENOTYPICFEATURE$, ectodermal abnormalities, and @DISEASE$.	false
+f20ea4815f7fc9808ebade402a77b1fff5fdad2d	@DISEASE$ (NS) and related disorders are autosomal dominant disorders characterized by @PHENOTYPICFEATURE$, facial dysmorphism, ectodermal abnormalities, and mental retardation.	false
+51d23d6511818eda49e7056194407ed18a430d6f	Altered mechanisms in the spacing effect have been found in animal models of disorders with @PHENOTYPICFEATURE$, such as @DISEASE$.	has_symptom
+932398656708aaa7c85213bcc420e114dcf556ee	She manifested phenotypic features of @DISEASE$ with short stature, @PHENOTYPICFEATURE$, and a webbed neck.	has_symptom
+7380246fe6aedc985c0e7777a9a43465d36c1959	She manifested phenotypic features of @DISEASE$ with @PHENOTYPICFEATURE$, mental retardation, and a webbed neck.	false
+926d3f9f88761a95aef556370504dfd440b9515a	She manifested phenotypic features of Noonan syndrome with @PHENOTYPICFEATURE$, @DISEASE$, and a webbed neck.	false
+dde5ad5d162e8e66238aa6280a2eebae55aeb71c	@DISEASE$ (NS) is characterised by distinctive facial features, heart defects, variable degrees of @PHENOTYPICFEATURE$ and other phenotypic manifestations.	has_symptom
+347ac7a6061f213751eed2337f442df19a6a68c2	@DISEASE$ (NS) is characterised by distinctive facial features, @PHENOTYPICFEATURE$, variable degrees of intellectual disability and other phenotypic manifestations.	false
+b718857911c9d069b5be9d88ae4b0e9233661e0c	Noonan syndrome (NS) is characterised by distinctive facial features, @PHENOTYPICFEATURE$, variable degrees of @DISEASE$ and other phenotypic manifestations.	false
+63a0da9084b367dc19d372a54a23394874a7ae13	Ostensible general @PHENOTYPICFEATURE$ in @DISEASE$ should always be further evaluated for specific disability.	has_symptom
+533dedf2295ba5b14160947558af800e7037c6f5	While @PHENOTYPICFEATURE$ is a common feature of @DISEASE$, the diagnosis of autism using operational criteria has not been reported.	has_symptom
+3c6ead36c89e2a20b9b80f0727d0c9f14e4d3f12	While mental retardation is a common feature of @DISEASE$, the diagnosis of @PHENOTYPICFEATURE$ using operational criteria has not been reported.	false
+dd1e0838510042723b87c3069296ab0bb883ebe5	While @DISEASE$ is a common feature of Noonan syndrome, the diagnosis of @PHENOTYPICFEATURE$ using operational criteria has not been reported.	false
+77b5cfad99d9c354223af8ea4871722bcb8baeea	@DISEASE$ with @PHENOTYPICFEATURE$ presenting with an affective disorder--case report.	has_symptom
+397e56cd33b6e5cbd69476b41c34484b51bef2e7	Telomere defects contribute to the pathogenesis of two progeroid disorders characterized by premature @PHENOTYPICFEATURE$, Werner syndrome and @DISEASE$.	has_symptom
+b5dcfa26859f734fbfedc2b299968ef0ac58f0c6	Main features of the autosomal dominant form of GH deficiency (@DISEASE$) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to @PHENOTYPICFEATURE$.	has_symptom
+c6c99d409f4827da84fe38a8ceb9caa0d543a1c4	Despite the differences in the main characteristics between the autosomal dominant form of GH deficiency (@DISEASE$) and the bioinactive GH syndrome, a common feature of both is their impact on linear growth leading to @PHENOTYPICFEATURE$ in all affected patients.	has_symptom
+9baf9346d4a714d7e8d4945b7c77cfdd7bbbd2c3	@DISEASE$ (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and @PHENOTYPICFEATURE$.	has_symptom
+5cba85e41690ff09c6382ae403fe55619f2dec45	Isolated growth hormone deficiency type II (@DISEASE$) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and @PHENOTYPICFEATURE$.	has_symptom
+2d57a5e2beef5086cfabf4113cf2023e54b02e46	The autosomal dominant form of GH deficiency (@DISEASE$) is characterized by markedly reduced GH secretion combined with low concentrations of IGF-1 leading to @PHENOTYPICFEATURE$.	has_symptom
+adea52a8e11b1b372ca517d274e4d0379b02b764	@DISEASE$ (IGHD II) is characterized by @PHENOTYPICFEATURE$ due to dominant-negative mutations of the human growth hormone gene (GH1).	has_symptom
+fa0c22ced208e7986a15064afb27ad3320b624aa	Isolated growth hormone deficiency type II (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ due to dominant-negative mutations of the human growth hormone gene (GH1).	has_symptom
+b3624846f4648ec1ddff7664f1bb486459d965a7	This is the first report of a patient suffering from @PHENOTYPICFEATURE$ caused by a GH-1 gene alteration affecting not only GH secretion (@DISEASE$) but also GH binding and signaling, highlighting the necessity of functional analysis of any GH variant, even in the alleged situation of IGHD II.	has_symptom
+c9e919a22369060d7abf1b8d96bb0d7cce0d347e	Some patients with systemic mastocytosis have concurrent @PHENOTYPICFEATURE$, designated in the World Health Organization (WHO) classification as systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (@DISEASE$).	has_symptom
+2471d5e7008c29fbc1bde5e7e526f5152ef38f40	Some patients with systemic mastocytosis have concurrent @PHENOTYPICFEATURE$, designated in the World Health Organization (WHO) classification as @DISEASE$ (SM-AHNMD).	has_symptom
+cea2a61a41057b4ca81f149340540dadcca0d2a8	In contrast, an increase in neoplastic eosinophils is often observed in advanced SM, predominantly in diseases designated SM with associated non-mastocytic @PHENOTYPICFEATURE$ (@DISEASE$), e.g. in SM with chronic eosinophilic leukemia (SM-CEL).	has_symptom
+b2d99e3f007a22cc48ab8159b145e161a75994f7	-related @DISEASE$, @PHENOTYPICFEATURE$, and cognitive impairment.	has_symptom
+732f719c6bbe529362771d3f8fb6d7e2e8bc6af7	-related @DISEASE$, congenital cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+8e2ce078d3a7fe59ba5d6c64870a1800146c69c8	-related autosomal recessive cerebellar ataxia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+42b73e3d7821310e33eb7d0962a7a1965e413ce0	To discuss the ophthalmic findings and their clinical significance in 10 new cases of @DISEASE$ (@PHENOTYPICFEATURE$, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.	has_symptom
+192b15878510128e36801de85127d75696386bd9	To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, @PHENOTYPICFEATURE$, and @DISEASE$ dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.	false
+7dd6f038aa2af32c3444d44a7160368022638cfb	To discuss the ophthalmic findings and their clinical significance in 10 new cases of @DISEASE$ (mental retardation, craniofacial anomalies, @PHENOTYPICFEATURE$, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.	false
+fc32af8399f27a6af7989da728e91f943c84997f	To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (@DISEASE$, craniofacial anomalies, @PHENOTYPICFEATURE$, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.	false
+537aa83a627bf1616d591db1f4ad870313c7bf54	Recently dysfunction of KIRREL3, a synaptic molecule of the immunoglobulin superfamily, has been implicated in several neurodevelopmental conditions including @PHENOTYPICFEATURE$, autism spectrum disorder, and in the neurocognitive delay associated with @DISEASE$.	has_symptom
+d91ebcd51edb498f6e075b1622a563237c29f668	Both genes are hemizygous in @DISEASE$, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and @PHENOTYPICFEATURE$, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections.	has_symptom
+880ebb36ee83b5cfbefc96d300975a71b0781fd1	Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving @DISEASE$, facial dysmorphism, growth and mental retardation, malformation of the heart and other organs, and @PHENOTYPICFEATURE$ associated with recurrent ear infections.	false
+1b99aff7cc02d1ad78441bee8044e5d3baeb7886	Both genes are hemizygous in @DISEASE$, an 11q contiguous gene deletion disorder involving thrombocytopenia, @PHENOTYPICFEATURE$, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections.	false
+2af8654a0722edf7e36f646765a94784d8ea7f78	Both genes are hemizygous in @DISEASE$, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other organs, and @PHENOTYPICFEATURE$ associated with recurrent ear infections.	false
+8aade86d64f737929d61fd8787301b601d74b2af	Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving thrombocytopenia, @PHENOTYPICFEATURE$, growth and @DISEASE$, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections.	false
+8b53bb7c0daee725adf17c2b2542442240849f6a	Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving @DISEASE$, @PHENOTYPICFEATURE$, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections.	false
+8e48ac1a096449928bf54d731a99b8cc980502db	Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and @DISEASE$, malformation of the heart and other organs, and @PHENOTYPICFEATURE$ associated with recurrent ear infections.	false
+880527ccdbbbc81836dc1515bb2976a51547264e	deletion, associated with malformations, hematologic features, and typical facial dysmorphism, observed in @DISEASE$ (JS), except for @PHENOTYPICFEATURE$ (ID).	has_symptom
+5ceb3dae4253c1f67fe516d5b6d011bfdd6152d3	deletion, associated with malformations, hematologic features, and typical @PHENOTYPICFEATURE$, observed in Jacobsen syndrome (JS), except for @DISEASE$ (ID).	false
+107a6896dc6a1c3758924d57d8092cb81c50f358	deletion, associated with malformations, hematologic features, and typical @PHENOTYPICFEATURE$, observed in @DISEASE$ (JS), except for intellectual disability (ID).	false
+9031fe47a54d6dcbd7e6d6962b3222d4cd254735	@DISEASE$ (JS) is a rare genetic condition characterized by @PHENOTYPICFEATURE$, hematologic abnormalities, and congenital heart defects.	has_symptom
+94f0ffe1e5c615ac38a3ab40cd58a4a669194033	Jacobsen syndrome (JS) is a rare genetic condition characterized by @DISEASE$, @PHENOTYPICFEATURE$, and congenital heart defects.	false
+1cf48fdd012e08dc1769fe93fa3a12cfeb0b8883	@DISEASE$ (JS) is a rare genetic condition characterized by intellectual disability, hematologic abnormalities, and @PHENOTYPICFEATURE$.	false
+463ac65daef4a96705242557706a06a860cf1c71	Jacobsen syndrome (JS) is a rare genetic condition characterized by @DISEASE$, hematologic abnormalities, and @PHENOTYPICFEATURE$.	false
+29a7ae24b0f11deca91675f3b4eaf32433225702	@DISEASE$ (JS) is a rare genetic condition characterized by intellectual disability, @PHENOTYPICFEATURE$, and congenital heart defects.	false
+870b42d7016775c061eddfd3f185221ada800442	@DISEASE$ (JS) is characterized by @PHENOTYPICFEATURE$ and higher risk for autism spectrum disorders (ASD).	has_symptom
+73a7d6894ddfa90f7e536b6fd7936a6b5563031e	causes a "partial @DISEASE$ phenotype" including congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$, and attention deficit hyperactivity disorder.	has_symptom
+1d99c8b94cd4bfd2fd38ea541405c1497fd5d40d	causes a "partial Jacobsen syndrome phenotype" including congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability, and @DISEASE$.	false
+abb3a82fba3cbbc96ca56fd6445740bbd7be433a	causes a "partial @DISEASE$ phenotype" including congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability, and attention deficit hyperactivity disorder.	false
+7b7b01e33a107c2d71b5586da03ee1ab70569550	causes a "partial Jacobsen syndrome phenotype" including @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability, and attention deficit hyperactivity disorder.	false
+e971c288fdf4ea7dc618daa7105135394fca9a49	causes a "partial Jacobsen syndrome phenotype" including congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, and attention deficit hyperactivity disorder.	false
+104c9a7235ca415cc1f1e333844fa52a3571d2e7	Features commonly seen in @DISEASE$ were short stature, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	has_symptom
+e35aedcf56ac2979ab355739646cb848efd44525	Features commonly seen in Jacobsen syndrome were @PHENOTYPICFEATURE$, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia @DISEASE$, and mild thrombocytopenia.	false
+558f6040efc424c9000292f8ed1a57aaf7c42ee0	Features commonly seen in Jacobsen syndrome were @PHENOTYPICFEATURE$, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild @DISEASE$.	false
+8983d0a13d13df9ec92530250f9da8997b381529	Features commonly seen in @DISEASE$ were @PHENOTYPICFEATURE$, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+1f363e43c20ed99f239f29602b0a3db262c66ef5	Features commonly seen in Jacobsen syndrome were @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+c10853559932930d169f5361b22cf2b1e6a26b2d	Features commonly seen in Jacobsen syndrome were @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+ea8afb404776ee00fe0d1a2acd1f827a8a6417d5	Features commonly seen in Jacobsen syndrome were @PHENOTYPICFEATURE$, mental retardation, congenital heart disease, @DISEASE$, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+b7509a2838df1a8216fd5a2bdebb70ca13762722	FRAXE is associated with X-linked non-specific @PHENOTYPICFEATURE$, and FRA11B with @DISEASE$.	has_symptom
+05ac98f50ba6809a8b92f3e6bef51c9cd255cd3c	Neph2, also known as Kirrel3, is an immunoglobulin superfamily adhesion molecule implicated in @PHENOTYPICFEATURE$, neurocognitive delay associated with @DISEASE$, and autism spectrum disorders.	has_symptom
+7e7a2ee158d09f8e73f87776909c30687313e151	Renal impairment is rare in @DISEASE$ and it is only exceptionally the cause of @PHENOTYPICFEATURE$.	has_symptom
+bb27ccb52f970738316652afe441f02236815a77	[Rapid course of @DISEASE$--since appearance of asthma till development of @PHENOTYPICFEATURE$ and neurological complication].	has_symptom
+eb1173e0705091162379c0af70f72927c4dcea17	ANCA-positive @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+1c16d038ae6ec6f5ef4d6fa4e428ee5e0cbcbfc0	Among vasculitides, IgA nephropathy has more frequently been associated with Henoch-Schoenlein purpura: one microscopic polyangiitis unusual because the patient simultaneously presented ANCA and microaneurysms, and the other @DISEASE$ associated with mild @PHENOTYPICFEATURE$.	has_symptom
+4d1c4b1b1e725a0ebd18a9cabf09c43e5f1f3315	He had a dismorphic face, @PHENOTYPICFEATURE$, cleft palate, and heart anomalies similar to @DISEASE$, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.	has_symptom
+9175500ea3f5152afc835ef0525307b87db73155	He had a dismorphic face, micrognathia, @PHENOTYPICFEATURE$, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or @DISEASE$ typical of the syndrome.	false
+0b5e4c160ac6d219434863949f18146cf5fa3f9a	He had a dismorphic face, @DISEASE$, @PHENOTYPICFEATURE$, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.	false
+dfe5e4e93f8a9d0e9612307e2525132c4947e926	He had a dismorphic face, micrognathia, @PHENOTYPICFEATURE$, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the @DISEASE$.	false
+00db7830c74fcb1ce5d099385b1163694e88c3b2	He had a dismorphic face, micrognathia, @PHENOTYPICFEATURE$, and heart anomalies similar to @DISEASE$, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.	false
+68d8ce85eee7e20b17a506604bbc8e8a624597cb	Here, we show that canonical Wnt-beta-catenin signaling negatively regulates Tbx1 expression and that mesenchymal inactivation of beta-catenin (Ctnnb1) in mice caused abnormalities within the @DISEASE$ phenotypic spectrum, including great vessel malformations, hypoplastic pulmonary and aortic arch arteries, cardiac malformations, @PHENOTYPICFEATURE$, thymus hypoplasia and mislocalization of the parathyroid gland.	has_symptom
+18a654123b0e2d343478af5d8c5115a06b7c9f30	Here, we show that canonical Wnt-beta-catenin signaling negatively regulates Tbx1 expression and that mesenchymal inactivation of beta-catenin (Ctnnb1) in mice caused abnormalities within the @DISEASE$ phenotypic spectrum, including great vessel malformations, hypoplastic pulmonary and aortic arch arteries, cardiac malformations, micrognathia, @PHENOTYPICFEATURE$ and mislocalization of the parathyroid gland.	false
+e3052eeecead1564e48ecd7d4abb5b91e098f116	Here, we show that canonical Wnt-beta-catenin signaling negatively regulates Tbx1 expression and that mesenchymal inactivation of beta-catenin (Ctnnb1) in mice caused abnormalities within the DGS phenotypic spectrum, including great vessel malformations, hypoplastic pulmonary and aortic arch arteries, cardiac malformations, @DISEASE$, @PHENOTYPICFEATURE$ and mislocalization of the parathyroid gland.	false
+eb0da49d58769061fc4d714b9900b75e3db2f99d	Moreover, the SNA of keywords highlighted new research topics: meta-analysis, cone beam computed tomography, tooth agenesis, case-control study, association study, @PHENOTYPICFEATURE$, @DISEASE$, NSCL/P, UCLP, GWAS, MTHFR, and CLPTM1L.	has_symptom
+3a7f4baec37c7f622223515deb305955d96b8d4e	Human @DISEASE$ is characterized by idiopathic @PHENOTYPICFEATURE$ and atypical restless leg syndrome.	has_symptom
+721d015f40275186491a06960cdcf1e48788094e	Our results demonstrate for the first time the pathophysiological consequences of @DISEASE$ in a human and help to define the concept for a new disease entity hallmarked by idiopathic @PHENOTYPICFEATURE$ and atypical RLS.	has_symptom
+59dcb19251a769dbf4ebca7f6acf1aa5ff5c1f92	We report the fourth case of a patient recognised with @DISEASE$, a distinct lethal sclerosing bone dysplasia, and we describe the association with @PHENOTYPICFEATURE$ demonstrable by ultrasound and CT.	has_symptom
+507b2a0a3cf2d0f0a90874be60d7951a9fb37974	@DISEASE$ is characterised by generalised osteosclerosis with craniofacial anomalies and @PHENOTYPICFEATURE$.	has_symptom
+57b7ccfff8ef7871c1ffe5b2630285fb0168e760	@PHENOTYPICFEATURE$ in @DISEASE$: radiological pathological correlation.	has_symptom
+35f7e386423b510eece5cdbebeee1cdd56da95a5	Our findings clarify FAM20C's role in hard tissue formation and mineralization, and show that @DISEASE$ is congenital sclerosing osteomalacia with @PHENOTYPICFEATURE$.	has_symptom
+db836d4b6d563225c8d80a103f805479320a6319	@PHENOTYPICFEATURE$, periosteal proliferation and microcephaly, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named @DISEASE$.	has_symptom
+e1cd6a80f8bbecd8ba1c0a912ca0581dd929aa8b	@DISEASE$, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named Raine syndrome.	false
+71ec8a0cd294f6670d0a1e37c6344a8fd32250d5	Intracranial calcification, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the @DISEASE$, can also be seen in a rare disorder named Raine syndrome.	false
+e84b4979b9c11fbb8faa7a9849d9a5d80985c42c	Intracranial calcification, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder @DISEASE$ Raine syndrome.	false
+3c0e61e0bc1974253b2cc21b298655bd2f8aba76	Intracranial calcification, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named @DISEASE$.	false
+8ceaf7ac177928667af0286da06632e3c454fc75	We report the seventh known patient with @DISEASE$, a recently recognised, lethal sclerosing bone dysplasia associated with severe craniofacial dysmorphism and @PHENOTYPICFEATURE$ in whom the CT findings are correlated with the gross and microscopic abnormalities found in the brain at autopsy.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+73a6064e63fe44cc52ef246b192112272354e7d6	@DISEASE$ is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	has_symptom
+f7befd06fa7f04521bf14c43a876a8de277b54b7	@DISEASE$ is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and @PHENOTYPICFEATURE$.	has_symptom
+e1b381fe1fa89c35fcb4f7d321bb211c630b4363	We report on a case of @DISEASE$ with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and @PHENOTYPICFEATURE$.	has_symptom
+48ef49a8a511a4ee9896e3e1d1c9e9bf46e08580	She presented with acute deterioration of consciousness and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ based on the detection of herpes simplex virus-1 in the cerebrospinal fluid by a polymerase chain reaction.	has_symptom
+4bb9d2720fc5836231b55c14b68b2be595c2f7b2	GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as seizures, @PHENOTYPICFEATURE$ and hypoglycorrhachia.	has_symptom
+8e7b5e1b66a7b4cc24a98effbf8ca8628f544bd0	GLUT1-DS is characterized by movement disorders, including @DISEASE$ (PED), as well as seizures, @PHENOTYPICFEATURE$ and hypoglycorrhachia.	has_symptom
+83ee8272890afafb950bfa9062492244cc53fc6d	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as seizures, mental retardation and hypoglycorrhachia.	false
+04de771ca308eadafec598fc7b80f03d36bc54ce	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including @DISEASE$ (PED), as well as seizures, mental retardation and hypoglycorrhachia.	false
+f818ae967d7cb270e4eeb6d64e7b462eba93bd07	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including paroxysmal exercise-induced dystonia (PED), as well as seizures, @DISEASE$ and hypoglycorrhachia.	false
+9961290f7be810aba155c66a08071f24654d39eb	GLUT1-DS is characterized by movement disorders, including @DISEASE$ (PED), as well as @PHENOTYPICFEATURE$, mental retardation and hypoglycorrhachia.	false
+dd979083fa4137bece8d9b807f08fee824d56c1d	GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as @PHENOTYPICFEATURE$, @DISEASE$ and hypoglycorrhachia.	false
+07694d2e02bb88882794dfccadde086c9ee8a9e6	GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as @PHENOTYPICFEATURE$, mental retardation and hypoglycorrhachia.	false
+613778243c09300ae1159857b7a28afa7def14dd	The preterm stillborn of 28 weeks gestation of a mother that suffered from @DISEASE$ was severely affected by a fetal hydrops with bilateral @PHENOTYPICFEATURE$ and lung hypoplasia.	has_symptom
+591f0fa3b7c9808ef7dfab4b442271d0ae136056	@DISEASE$ (SS) is a very prominent feature in CKD including uglifying human face appearances, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-@PHENOTYPICFEATURE$, finger tip changes and severe psychological problems.	has_symptom
+bb5e7b0a1a7c07d68687e18f9993f70eb86a2deb	Sagliker syndrome (SS) is a very prominent feature in CKD including uglifying human face appearances, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-@DISEASE$, finger tip changes and severe psychological problems.	false
+8209a16cf3f68f8ee8bc68c01686a9760d2d3005	Sagliker syndrome (SS) is a very prominent feature in @DISEASE$ including uglifying human face appearances, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems.	false
+7744ea4a4728ab0d4e61a3857533d6255ea5c27b	@DISEASE$ (SS) is a very prominent feature in CKD including uglifying human face appearances, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems.	false
+4c72591fff3812db261519647da5a1c15497c024	Four patients metthe criteria for @DISEASE$: chronic renal insufficiency, secondary hyperparathyroidism, short stature, severe changes in the skull and jaw that lead to festoon-like uglifying face, @PHENOTYPICFEATURE$, "brown" tumors, deformations of the phalanges of the fingers, psychological diseases and depression.	has_symptom
+7e0b88eea91a6bf8588c4a307a1b41b5d64f2f11	Four patients metthe criteria for Sagliker syndrome: chronic @DISEASE$, secondary hyperparathyroidism, short stature, severe changes in the skull and jaw that lead to festoon-like uglifying face, dental abnormalities, "brown" @PHENOTYPICFEATURE$, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+f1a21d9f5fe3d82edb1fcf0c5f83944424cdcf22	Four patients metthe criteria for Sagliker syndrome: chronic renal insufficiency, secondary hyperparathyroidism, short stature, severe changes in the skull and jaw that lead to festoon-like uglifying face, @DISEASE$, "brown" @PHENOTYPICFEATURE$, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+7ad34da0165581840bae1788d1598c887bb03003	Four patients metthe criteria for @DISEASE$: chronic renal insufficiency, secondary hyperparathyroidism, @PHENOTYPICFEATURE$ changes in the skull and jaw that lead to festoon-like uglifying face, dental abnormalities, "brown" tumors, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+915f4ee125d53278f3948876cc9ac89684d3323a	Four patients metthe criteria for Sagliker syndrome: chronic @DISEASE$, secondary hyperparathyroidism, @PHENOTYPICFEATURE$ changes in the skull and jaw that lead to festoon-like uglifying face, dental abnormalities, "brown" tumors, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+57045624d781615425356a7959abac8f4d27e9a9	Four patients metthe criteria for Sagliker syndrome: chronic renal insufficiency, secondary hyperparathyroidism, @PHENOTYPICFEATURE$ changes in the skull and jaw that lead to festoon-like uglifying face, @DISEASE$, "brown" tumors, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+4e30adf6d6dcc48e192add6ee976c5cdcec2ab12	Four patients metthe criteria for @DISEASE$: chronic renal insufficiency, secondary hyperparathyroidism, short stature, severe changes in the skull and jaw that lead to festoon-like uglifying face, dental abnormalities, "brown" @PHENOTYPICFEATURE$, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+e6d13c575310c669949dc428fd3a0ab4885b18e4	Recently described @DISEASE$ (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/@PHENOTYPICFEATURE$, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems.	has_symptom
+7e2049eec8c646965a9e790370385b3a901c4305	Recently described @DISEASE$ (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems.	false
+991143f9189acd205ac24aa149eb2fdf8826dcc5	Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in @DISEASE$, including an uglifying appearance to the face, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems.	false
+50b2770ada6d461fd20119f91334633b9f8e1a3f	Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/@DISEASE$, fingertip changes, knee and scapula deformities, @PHENOTYPICFEATURE$, and neurological and, more important, severe psychological problems.	false
+a0ec317efcb63aecfdf4ad702083fb8f6275d6d8	Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in @DISEASE$, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, @PHENOTYPICFEATURE$, and neurological and, more important, severe psychological problems.	false
+509b855bb6efcff41d17a79f537d3feb1b13713d	Recently described @DISEASE$ (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, short stature, extremely severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, @PHENOTYPICFEATURE$, and neurological and, more important, severe psychological problems.	false
+c3a2bb5c3d46141a1a84542dfb8ef763ec7c99a5	Recently described Sagliker syndrome (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/@DISEASE$, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems.	false
+3ddb6baf196505dec1b44ba965f35ab2c9bc4be3	@DISEASE$ II (Hunter disease) with @PHENOTYPICFEATURE$.	has_symptom
+cc43560f00eaae3cbf16548f6ebfe182e83dc655	This study characterized the phenotype and genotype of @DISEASE$ VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, @PHENOTYPICFEATURE$, and increased respiratory sounds.	has_symptom
+9af180dd5549ca6f086bba31dc376a3e4854563d	This study characterized the phenotype and genotype of @DISEASE$ VI in a Great Dane puppy with clinical signs of stunted growth, @PHENOTYPICFEATURE$, skeletal deformities, corneal opacities, and increased respiratory sounds.	false
+02ce3057b172f2854ae97a9563b67422f71917bb	This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, @PHENOTYPICFEATURE$, skeletal deformities, @DISEASE$, and increased respiratory sounds.	false
+52472e2b5540469bc493d47050cd5a5299ea7062	Clinically visible @PHENOTYPICFEATURE$ were observed in a patient with an extremely severe form of @DISEASE$ II.	has_symptom
+d5df1848af64f2e77755fde4d3c7e08d0b8ac05c	A girl, ultimately diagnosed as having profound ornithine transcarbamylase (@DISEASE$) deficiency, presented as a neonate with feeding intolerance, irritability, and @PHENOTYPICFEATURE$ without concurrent hyperammonemia.	has_symptom
+eaca344926eb819032856713a418ddda8a9d97d5	Congenital ornithine transcarbamylase (@DISEASE$) deficiency in humans is associated with @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+8133597fa19bf00aac7765ed421f818974138a8c	Congenital ornithine transcarbamylase (OTC) deficiency in humans is associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0b1cd740468aa0c41d5874a32f9bba2d10cc58bc	Congenital ornithine transcarbamylase (@DISEASE$) deficiency in humans is associated with seizures and @PHENOTYPICFEATURE$.	false
+1dcb22c9d98506c85eb53e7a8269fba4515c48af	Its function is unknown, although mice with deletion of Vlgr1 (Vlgr1b together with other splicing variants, Vlgr1c, Vlgr1d and Vlgr1e) are known to exhibit audiogenic @PHENOTYPICFEATURE$ susceptibility and VLGR1 is reported to be the gene responsible for Usher type 2@DISEASE$.	has_symptom
+72c5e7fd06e7eb870ce830c81be1011b45dc816c	We record the typical clinical and biochemical findings of ornithine transcarbamylase (@DISEASE$) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and @PHENOTYPICFEATURE$.	has_symptom
+87d028ad8cfcdcaafcabe09b0e810677ab2c90ac	We record the typical clinical and biochemical findings of ornithine transcarbamylase (@DISEASE$) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, @PHENOTYPICFEATURE$ and seizures.	false
+e1e964635835aa117544876335dfe09918af8861	We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3407d6cbd6fc2c80cbbca7c31cf4a5b3338dff95	@DISEASE$ (CCD) is an autosomal dominant bone disorder in which @PHENOTYPICFEATURE$ is common secondary to malformation of the middle ear structures.	has_symptom
+3164c81d4e13f8cf1e8f989d355c2941b178e2e5	@PHENOTYPICFEATURE$ are consistent findings in patients with the @DISEASE$ type VI (V?radi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet.	has_symptom
+ef0804c0395e38d1cf697888b54464e05dd52a44	Varadi Papp syndrome or @DISEASE$ type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by @PHENOTYPICFEATURE$.	has_symptom
+2df0af6f8e4a2da9cfcd18129e9ca9f648517136	Recently, cilia-related gene deficiencies have been implicated in several congenital disorders that exhibit @PHENOTYPICFEATURE$ such as Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, and @DISEASE$.	has_symptom
+35a3981130d69febf95f9ecaeb18d469fdc07624	@DISEASE$ type VI (OFDS VI) or V?radi syndrome is a rare autosomal-recessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by @PHENOTYPICFEATURE$.	has_symptom
+a98308d7a2644de6f394ed99e0b480703e1816c0	We report a female infant with features suggestive of @DISEASE$ (OFDS) Type I and associated @PHENOTYPICFEATURE$ with Dandy-Walker malformation which suggest OFDS Type VI.	has_symptom
+c6891fe52bb1c08f26e22c1d6f9dd500a8419eb6	Varadi-Papp syndrome (VPS) or @DISEASE$ type VI (OFDS-VI) is a rare autosomal recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by @PHENOTYPICFEATURE$.	has_symptom
+a1fd4876e010a1d09431d54f1d1d9d30b6987392	These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated Dandy-Walker malformation, may account for the @PHENOTYPICFEATURE$ in this form of @DISEASE$.	has_symptom
+d642aa69e51100b29d30f1076451714c5e88bbcd	These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated @PHENOTYPICFEATURE$, may account for the @DISEASE$ in this form of oral-facial-digital syndrome.	false
+596b577b571f325effd0cd928d241ca6e089c1da	These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated @PHENOTYPICFEATURE$, may account for the cerebellar abnormalities in this form of @DISEASE$.	false
+ec24170b006ffa350a3657474066f1c3d8790a4c	V?radi syndrome, designated @DISEASE$ type VI, is a rare disorder that is additionally characterized by @PHENOTYPICFEATURE$.	has_symptom
+58b621f7904fa55985806338a251cce44ad181e5	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, @PHENOTYPICFEATURE$ and microcephaly, (2) paroxysmal exercise-induced dyskinesia (@DISEASE$) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	has_symptom
+e834f35d7c221a978e73d0edc3d61e9972e3b5ab	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (@DISEASE$) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+fb07e22a5fbf9dd9425e68564d3f891793021e92	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, @DISEASE$ and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+54f8ca2d7e86c7f6a9a0c64709b491a46bb1c4fc	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe @DISEASE$ delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+deae074a6d621e3d3802785a1d8364793608f0a6	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of @DISEASE$: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+b2ea79e815d33bc842de9a923f42bd058b9462b4	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+769aa2b4e65437cadc660ec4a81b5af6eaf02595	Scientific literature on coexistance of myxedema @PHENOTYPICFEATURE$ and @DISEASE$ is sparse.	has_symptom
+ddab5905fb8de7adb2edf8ac00762321ed16c10a	There is a paradox in co existence of myxedema @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c11516b1124a20a2df4feaa5eb671ec9f3355609	@DISEASE$ and hyperosmolar @PHENOTYPICFEATURE$.	has_symptom
+3c633bd7204282cbc38387eb0c930d1434af546d	Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, malignant hyperthermia, @DISEASE$, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar @PHENOTYPICFEATURE$, severe hypo- or hyperthyroidism and bacterial or viral infections.	has_symptom
+24c82f7a8a5cab0ccd39c78d7ff6cd5294342f5f	Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar @DISEASE$, severe hypo- or hyperthyroidism and bacterial or viral infections.	false
+289371f543dbf1b0f272a85ae31331312cce8512	Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary @DISEASE$, drugs, toxins, endocrinopathies, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar coma, severe hypo- or hyperthyroidism and bacterial or viral infections.	false
+1a6c9570b3248f87c87f0a6296c8c739fffd2435	Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, @PHENOTYPICFEATURE$, @DISEASE$, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar coma, severe hypo- or hyperthyroidism and bacterial or viral infections.	false
+38a0abe911e8dd502f4fcc774ae5fdebca68b1f0	Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar coma, severe hypo- or hyperthyroidism and bacterial or @DISEASE$.	false
+6ac2191409d8d9aedd7a536f486ecd0032f9ba80	Although direct muscle injury remains the most common cause of muscle @DISEASE$, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar coma, severe hypo- or hyperthyroidism and bacterial or viral infections.	false
+c482289cfb78f8367b744515524fff82454d6e7d	Although direct muscle injury remains the most common cause of muscle injury, additional causes include hereditary enzyme disorders, drugs, toxins, endocrinopathies, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, heatstroke, hypothermia, electrolyte alterations, diabetic ketoacidosis and non-ketotic hyperosmolar coma, severe hypo- or @DISEASE$ and bacterial or viral infections.	false
+56ada7bf7886c1716a7e0e8e3c6a1697c93006a6	Aripiprazole-related severe @DISEASE$ with deep @PHENOTYPICFEATURE$ and organic brain changes in an antipsychotic-naive adolescent boy.	has_symptom
+9b70d4b14b7f170bc82cdba6de6243ed07159222	Clozapine discontinuation with potential rechallenge (provided there is appropriate surveillance and management or prophylactic therapy) is indicated for ileus or subileus, @DISEASE$, venous thromboembolism, and diabetic ketoacidosis or hyperosmolar @PHENOTYPICFEATURE$.	has_symptom
+9e4f09e430e83d5cedd2e876e2ba3f01f6777add	Several complications were attributable to this intoxication including seizures, prolonged @PHENOTYPICFEATURE$, respiratory depression, @DISEASE$, prolonged QRS and QTc intervals, and a possible venlafaxine withdrawal syndrome.	has_symptom
+9539a96d0db1a23390e8cd991295d9b352c6b77e	Several complications were attributable to this intoxication including @PHENOTYPICFEATURE$, prolonged coma, respiratory depression, @DISEASE$, prolonged QRS and QTc intervals, and a possible venlafaxine withdrawal syndrome.	false
+0943c07d6d5d5253bca392b12cbd1a56a32e10af	Several complications were attributable to this intoxication including @PHENOTYPICFEATURE$, prolonged @DISEASE$, respiratory depression, neuroleptic malignant syndrome, prolonged QRS and QTc intervals, and a possible venlafaxine withdrawal syndrome.	false
+77cb955611d5ae97d2b4b8105afba08227abee5b	A Rare Case of Myxedema @PHENOTYPICFEATURE$ with Neuroleptic Malignant Syndrome (@DISEASE$).	has_symptom
+f9636ec2428c602712f359ef801481203f6056e0	A Rare Case of Myxedema @PHENOTYPICFEATURE$ with @DISEASE$ (NMS).	has_symptom
+e2156f66bf2d455cf22d25db0cf446e43d669cb5	We hereby report first case with coexisting myxedema @PHENOTYPICFEATURE$ and @DISEASE$ in a patient of schizophrenia treated with antipsychotic, where classical symptoms of NMS were masked by myxedema coma.	has_symptom
+4282fabb4cae4fe0f0fa358b83623a6724552907	We hereby report first case with coexisting myxedema @PHENOTYPICFEATURE$ and NMS in a patient of schizophrenia treated with antipsychotic, where classical symptoms of @DISEASE$ were masked by myxedema coma.	has_symptom
+b6b9ab7265789dfdb21a78d8456763e8fe4b78eb	We hereby report first case with coexisting myxedema coma and @DISEASE$ in a patient of schizophrenia treated with antipsychotic, where classical symptoms of NMS were masked by myxedema @PHENOTYPICFEATURE$.	has_symptom
+d20ebe0c9a9dde9487e3506ab88e5de338dbd30f	We hereby report first case with coexisting myxedema coma and NMS in a patient of schizophrenia treated with antipsychotic, where classical symptoms of @DISEASE$ were masked by myxedema @PHENOTYPICFEATURE$.	has_symptom
+662a08ddccbf6cb4e8e096ecda2cc8c21990dc8d	However, various adverse reactions, including cardiac dysrhythmias, renal failure, @PHENOTYPICFEATURE$, seizures, and @DISEASE$, were reported during therapy or after acute overdose.	has_symptom
+9c553895af8094322a08d1dfc0870e29db3c00dc	However, various adverse reactions, including cardiac dysrhythmias, @PHENOTYPICFEATURE$, @DISEASE$, seizures, and neuroleptic malignant syndrome, were reported during therapy or after acute overdose.	false
+0a5ea067cf7fb0827559abe322d40c94751abfed	However, various adverse reactions, including cardiac dysrhythmias, renal failure, coma, @PHENOTYPICFEATURE$, and @DISEASE$, were reported during therapy or after acute overdose.	false
+c099e236a27ae100ff7cf0cbd551412405a57e1e	However, various adverse reactions, including cardiac dysrhythmias, @PHENOTYPICFEATURE$, coma, seizures, and @DISEASE$, were reported during therapy or after acute overdose.	false
+6126cb706b350f835d01c56246b07ea8159509a7	However, various adverse reactions, including cardiac dysrhythmias, renal failure, @DISEASE$, @PHENOTYPICFEATURE$, and neuroleptic malignant syndrome, were reported during therapy or after acute overdose.	false
+de606cdc14076a4e9ca1009fdced4d84ee12616c	Charts were reviewed for demographics, clinical parameters (duration of fever, history of febrile seizure, focality of @PHENOTYPICFEATURE$, antibiotic use before @DISEASE$, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	has_symptom
+444cd05b1e5aab37fdb61c1e64980059fad7f0d1	Charts were reviewed for demographics, clinical parameters (duration of fever, history of febrile seizure, focality of @PHENOTYPICFEATURE$, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the @DISEASE$, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	has_symptom
+9f099afe86afc720d4daaa28d2f8c6356a3e0247	Charts were reviewed for demographics, clinical parameters (duration of fever, history of febrile seizure, focality of @PHENOTYPICFEATURE$, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the @DISEASE$ or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	has_symptom
+7c2845d553fadd17a17ed614c52237204b7dc1eb	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of seizure, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the @DISEASE$, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+5ec08ddf0fdecf9904dd0d88d17fb61ae8bb9b82	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of seizure, antibiotic use before @DISEASE$, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+fb3624d368b995eb807b2ba5c799cb3ab8631c5f	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of @DISEASE$, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+e64abf238595192adb908bd8bcb11c9504397d18	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of seizure, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the @DISEASE$ or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+d746440527f198b54c033adb9ef859938998ae64	Patients who presented to @DISEASE$ with @PHENOTYPICFEATURE$ during past 24?h were enrolled.	has_symptom
+59c42b66d8c7af45d5491f4acd40a912e4e97b89	Children presenting to the @DISEASE$ with first-ever convulsive @PHENOTYPICFEATURE$ represent a heterogeneous group.	has_symptom
+ba38cd73219e33c3e25275472e178e66f74855de	Patients without risk factors and no @PHENOTYPICFEATURE$ during the first 6?h should not be observed for extended periods in @DISEASE$.	has_symptom
+5251f49b59dc7b7f1386e70d81031b6c0702e108	Pointers to GLUT1D include an increase in @PHENOTYPICFEATURE$ before meals, cognitive impairment, or @DISEASE$ which can easily be overlooked.	has_symptom
+febf0c8f28a5bd9720fc9a7f50d20fa816f08cc1	Pointers to GLUT1D include an increase in @DISEASE$ before meals, @PHENOTYPICFEATURE$, or PED which can easily be overlooked.	false
+1e6ddf1a1d45447148af00642fb885e2542a05cc	Pointers to GLUT1D include an increase in seizures before meals, @PHENOTYPICFEATURE$, or @DISEASE$ which can easily be overlooked.	false
+d177f121f6685542f8f37a65f76b938888ff8f35	Demographic features, number and duration of @PHENOTYPICFEATURE$, diagnostic studies, physical examination findings, presence and time of seizure recurrence in @DISEASE$ were noted.	has_symptom
+3254531a53e8606076a53ece8a74313cbd8da104	Demographic features, number and duration of seizures, diagnostic studies, physical examination findings, presence and time of @PHENOTYPICFEATURE$ recurrence in @DISEASE$ were noted.	has_symptom
+07694d2e02bb88882794dfccadde086c9ee8a9e6	GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as @PHENOTYPICFEATURE$, mental retardation and hypoglycorrhachia.	has_symptom
+9961290f7be810aba155c66a08071f24654d39eb	GLUT1-DS is characterized by movement disorders, including @DISEASE$ (PED), as well as @PHENOTYPICFEATURE$, mental retardation and hypoglycorrhachia.	has_symptom
+83ee8272890afafb950bfa9062492244cc53fc6d	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as seizures, mental retardation and hypoglycorrhachia.	false
+04de771ca308eadafec598fc7b80f03d36bc54ce	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including @DISEASE$ (PED), as well as seizures, mental retardation and hypoglycorrhachia.	false
+f573095b2b9f3d5691866e7e94841ac59f0d11a9	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including paroxysmal exercise-induced dystonia (PED), as well as @DISEASE$, mental retardation and hypoglycorrhachia.	false
+7b7921d84c65dee10ed7b8203e3c1f3ecac30e56	GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (PED), as well as @DISEASE$, @PHENOTYPICFEATURE$ and hypoglycorrhachia.	false
+4bb9d2720fc5836231b55c14b68b2be595c2f7b2	GLUT1-DS is characterized by movement disorders, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as seizures, @PHENOTYPICFEATURE$ and hypoglycorrhachia.	false
+8e7b5e1b66a7b4cc24a98effbf8ca8628f544bd0	GLUT1-DS is characterized by movement disorders, including @DISEASE$ (PED), as well as seizures, @PHENOTYPICFEATURE$ and hypoglycorrhachia.	false
+a0e3fe6a5bd3e23dbea73baedbb66012f88cf08f	Here we will review the basics about first-time afebrile @PHENOTYPICFEATURE$ presenting to the @DISEASE$ and common treatments specific to seizure types.	has_symptom
+d26e8ec6e2950803e66cd2e0544ebfd598307383	Here we will review the basics about first-time afebrile seizures presenting to the @DISEASE$ and common treatments specific to @PHENOTYPICFEATURE$ types.	has_symptom
+50aecfc6b667684203bcb4b0d73ae9d5f4df1bbf	Most patients present with @PHENOTYPICFEATURE$ to pediatric emergency department (@DISEASE$) are observed for extended periods for the risk of possible acute recurrence.	has_symptom
+581bcbfdfe099fd4926c550d62838f307d824d64	During adult seizures, cerebral oximetry (regional cerebral oxygen saturation [rcSO2]) has been shown as a useful neurological assessment tool, but research is lacking in pediatric emergency department (@DISEASE$) @PHENOTYPICFEATURE$ patients.	has_symptom
+fab67939f388ef64c010c4e97b18bb87070e2b9f	During adult @PHENOTYPICFEATURE$, cerebral oximetry (regional cerebral oxygen saturation [rcSO2]) has been shown as a useful neurological assessment tool, but research is lacking in pediatric emergency department (@DISEASE$) seizure patients.	has_symptom
+31a77bb0d9274c91103e685b059f627c8abe0163	A 14-year-old boy with a right popliteal mass and recurrent @PHENOTYPICFEATURE$ of the right leg was admitted to a local hospital where a diagnosis of @DISEASE$ was made.	has_symptom
+cfb94cb012188ab9febfc9c8121e04ca766d2f3f	Two patients with @DISEASE$ demonstrated partial clinical responses with reduced @PHENOTYPICFEATURE$.	has_symptom
+927081410b78745f10f089ff2e22926ff6766628	The @DISEASE$ is a rare disorder characterized by congenital vascular hamartomas, limb hypertrophy, cutaneous manifestations, lymphangiomas and atresia of lymph vessels with non-pitting @PHENOTYPICFEATURE$.	has_symptom
+27c68d3fc0b5d44e3f1b5d99b923362080d7b56d	The clinical findings of our patient were consistent with @DISEASE$ though her psychomotor retardation and @PHENOTYPICFEATURE$ were relatively moderate as compared with those previously reported.	has_symptom
+8665fc207548109a4224b6718c584e48038537a1	We demonstrate the utility of this new test in the diagnosis of @DISEASE$ in a patient with no family history of @PHENOTYPICFEATURE$.	has_symptom
+c3c6896cab90c8749aa7d0590b6dd1e4410a7de4	Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by platyspondyly, brachydactyly, and metaphyseal changes.	has_symptom
+fa674a3d9fd5f7e12aa5d1ba6eb55d7808b9773b	Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare @DISEASE$ characterized by platyspondyly, @PHENOTYPICFEATURE$, and metaphyseal changes.	false
+513cb207a24465116e4cab2b30f772e63d8bdf2a	Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (@DISEASE$) is a rare skeletal dysplasia characterized by platyspondyly, @PHENOTYPICFEATURE$, and metaphyseal changes.	false
+414dd2b3f5a7666a3788d9f931e3f94cd1b995d6	Platyspondylic lethal @DISEASE$ (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, @PHENOTYPICFEATURE$, and metaphyseal changes.	false
+1ccd908c862d4a9a9cf9a1c3f9c0828feb9f9d1e	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare @PHENOTYPICFEATURE$ characterized by platyspondyly, extremely short limbs, and mild brachydactyly.	has_symptom
+8017797f2a3505ba51b8e4e2b627a183ba6d0073	We describe a fetus with @DISEASE$ (PLSD-T), a rare @PHENOTYPICFEATURE$ characterized by platyspondyly, extremely short limbs, and mild brachydactyly.	has_symptom
+448f3b54867f43fe09e8fe6ca593259dada46b21	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare @DISEASE$ characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+9717759622debcefddd79e1b49e75f9cbb1fcafd	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare @DISEASE$ characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	false
+7154563efb4e135130859ea7d90dcd619d3d7fe9	We describe a fetus with @DISEASE$ (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	false
+f95f55dc23371766a19db028b8a8e00b1bf815b2	We describe a fetus with @DISEASE$ (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+0e67cd4d64ed899ad5d2b030106e0537040bf687	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare skeletal dysplasia characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	false
+f7910825eca37c9e90cb423a682898bbae89058f	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+e55fcbf60d74694a0916e48925f0b04986524ea5	This observation further highlights the causal relationship between @DISEASE$ and SPPD and emphasizes the importance of evaluating parents when confronted with a @PHENOTYPICFEATURE$ in a prenatal setting.	has_symptom
+748c878fee11a165a92eaa7805ce89fc64f9980f	These findings strongly suggest that ER stress-mediated apoptosis caused by the accumulated mutant proteins in ER contributes to @PHENOTYPICFEATURE$ in Co12a1 mutant mice and @DISEASE$ patients.	has_symptom
+684f5adb6022e67883fcbd24725f9aa1ae63677a	We report here on a family in which a severe form of @PHENOTYPICFEATURE$ was recurrent in two sibs whose phenotype was most consistent with @DISEASE$ (PLSD-T).	has_symptom
+10f38761a9e0b7a134f7b46ca70baa8717521938	We report here on a family in which a severe form of @PHENOTYPICFEATURE$ was recurrent in two sibs whose phenotype was most consistent with platyspondylic lethal skeletal dysplasia Torrance type (@DISEASE$).	has_symptom
+d88a1603a09a81262a561c3004bcb34c3da7d5ad	Endoplasmic reticulum stress-mediated apoptosis contributes to a @PHENOTYPICFEATURE$ resembling @DISEASE$, in a novel Col2a1 mutant mouse line.	has_symptom
+d969d24c04af4c0f2d1f4c8483de164898d35103	The Y1391C mutation is located in the C-propeptide of the procollagen chain and has been reported before in a patient with the Torrance type of lethal platyspondylic @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+e4cf606812d03caf0df591ddf275b4af120ab6c7	The present patients and the previously reported male patients from four families (clinical OFD1; @DISEASE$ with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (@PHENOTYPICFEATURE$, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).	has_symptom
+9d92633671805e6e580ca8916a9052fe9fbe0aa5	The present patients and the previously reported male patients from four families (clinical OFD1; @DISEASE$ with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or @PHENOTYPICFEATURE$ and/or cerebellar vermis and posterior fossa abnormalities).	false
+ab21168b6ca8cbb8d73dc81cb16294c936987497	The present patients and the previously reported male patients from four families (clinical OFD1; @DISEASE$ with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and @PHENOTYPICFEATURE$), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).	false
+9e5f29b913b33c9a0f8823602ad53892c97e3fa8	The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and @DISEASE$ (hypoplasia or @PHENOTYPICFEATURE$ and/or cerebellar vermis and posterior fossa abnormalities).	false
+3596a5aab94643735812897ff21c12e04df959dc	The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (@DISEASE$, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or @PHENOTYPICFEATURE$ and/or cerebellar vermis and posterior fossa abnormalities).	false
+ab366cd2f867f0f24c9de440208163d46b8cf203	The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (@DISEASE$, depressed or broad nasal bridge, and @PHENOTYPICFEATURE$), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).	false
+e4e1ff442e76a02d82b63f7d28b3485c8e75468d	The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and @PHENOTYPICFEATURE$), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and @DISEASE$ (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).	false
+283754e74181f77560f8f21f50bbb42c554e0b33	Hydrocephalus, @PHENOTYPICFEATURE$, and cleft lip/palate represent frequent associations in fetuses with @DISEASE$ and B3GALTL mutations.	has_symptom
+b9ca20833137c8adcdcda3b1e39c7333e95ed8c3	Although our APS/AWS patient had overlapping features with @DISEASE$ (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and diabetes mellitus, were absent.	has_symptom
+0a175f4b1ed1a8cfce31d11fc856985a866d120e	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and @DISEASE$, were absent.	false
+79ff6d4c85f476cfab5e14c1271b155329077b6a	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @PHENOTYPICFEATURE$, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and @DISEASE$, were absent.	false
+7ae3711993fbc9d4bd9d3cf4d92addf5e391fabb	Although our APS/AWS patient had overlapping features with @DISEASE$ (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @PHENOTYPICFEATURE$, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+e2c1c58f3c11b146c079f8a70a99c5ac2e2d54c4	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and @DISEASE$, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+9162da2f2e3fe50ef09b7bfd55e3d6c8ac9ff9a2	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, @DISEASE$ on the soles and diabetes mellitus, were absent.	false
+ece902ff13f82b6c9edec5c62a8d01c4257d24f5	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @PHENOTYPICFEATURE$, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+79ad4326fa9027584dd5327ba4afefa617ccf222	Although our APS/AWS patient had overlapping features with @DISEASE$ (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+66054fecba9445fe0cce24fbcc10d05687a75f88	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+74a24662f6aae4e133f9d66c38efc9733c912d83	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and @DISEASE$, several cardinal features of WS, including @PHENOTYPICFEATURE$, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+bc4ebcf976791efa3cea52f1b11c6e74c3623588	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @PHENOTYPICFEATURE$, premature graying/alopecia, cataract, bird-like face, flat feet, @DISEASE$ on the soles and diabetes mellitus, were absent.	false
+fded08ea5a71ee3fd32d416af34d32cbafa9a894	In @DISEASE$, progression of the lesion stage (partial/complete resorption of the material) is generally accompanied by IS/OS interface disruption/loss and @PHENOTYPICFEATURE$.	has_symptom
+44f240d35e8e00fabec63436a358252cad830081	A large percentage of survivors of neonatal @DISEASE$ suffer severe developmental disorders, including seizures, @PHENOTYPICFEATURE$ and cerebral palsy.	has_symptom
+d3730271e33392d4366dffe8b2c49803852b5f9c	A large percentage of survivors of neonatal @DISEASE$ suffer severe developmental disorders, including @PHENOTYPICFEATURE$, mental retardation and cerebral palsy.	false
+9481d8bb34ae62e5211d2e65755a76ce9f48b90b	A large percentage of survivors of neonatal OTC deficiency suffer severe developmental disorders, including @PHENOTYPICFEATURE$, @DISEASE$ and cerebral palsy.	false
+f8bd6d358ee5abc00deab09792fc6e4448fb7758	@DISEASE$ is an X-linked disorder that causes hyperammonemia leading to brain damage, @PHENOTYPICFEATURE$ and death.	has_symptom
+b40bc689130881ecaec13ec36d97f65dac4738a8	Overweight and @PHENOTYPICFEATURE$ in pediatric secondary @DISEASE$ syndrome.	has_symptom
+06fd021d62380d80803f2c324ad158c4ecc2f507	The major modifiable risk factor associated with @DISEASE$ is @PHENOTYPICFEATURE$.	has_symptom
+d42d844fca1073acf399bad9bb9e33e74db730ee	Pediatric @DISEASE$ and extreme childhood @PHENOTYPICFEATURE$: a role for weight gain.	has_symptom
+d5428551cee0bc19d35fa6d6955b585882946b2c	Pediatric @DISEASE$ and extreme childhood @PHENOTYPICFEATURE$: a comment on visual outcomes.	has_symptom
+af746b61c646d1945f100f36b58e51d8eb3963b9	Fifteen consecutive female patients with @DISEASE$ associated with @PHENOTYPICFEATURE$ were studied.	has_symptom
+956421de91ab96e64f6801d4032d439e00cd4f45	Overweight and @PHENOTYPICFEATURE$ are less closely associated with idiopathic intracranial hypertension (@DISEASE$) in young children than in post-pubescent children and adults.	has_symptom
+742ae78e6cc2a1606c1badd2879ce87de15aeb5d	Overweight and @PHENOTYPICFEATURE$ are less closely associated with @DISEASE$ (IIH) in young children than in post-pubescent children and adults.	has_symptom
+eb1c725884faac5ff5427dd3475323127377f3d8	Pediatric @DISEASE$ and extreme childhood @PHENOTYPICFEATURE$.	has_symptom
+980030928259e232accd7c6dbffb5ac2325ee422	This is associated with @PHENOTYPICFEATURE$ and/or @DISEASE$ (IIH).	has_symptom
+37fc720ef070d5cf19b0fab080021762eb8bd9ea	The incidence of @DISEASE$ is rising along with @PHENOTYPICFEATURE$ rates.	has_symptom
+96340e24bf8aeceff39dba80389ce2fc3704b990	The incidence of @DISEASE$ is increasing along with the @PHENOTYPICFEATURE$ epidemic.	has_symptom
+579f3832e0359743bad312d83485cfcc58fcd2c0	@DISEASE$ (naevoid basal cell carcinoma syndrome): prenatal detection in a fetus with @PHENOTYPICFEATURE$ and ventriculomegaly.	has_symptom
+71a6803f05dd47f97bbd1265cb17f2231e4e0b78	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, @PHENOTYPICFEATURE$, and corpus callosum agenesia, but with absence of skin lesions.	has_symptom
+a87be3679b1a3fc7f7e488787190d58d0a6abf4a	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and @PHENOTYPICFEATURE$, but with absence of skin lesions.	false
+719a3fcaec9249840ec454f291ee992d4a53e551	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, @PHENOTYPICFEATURE$, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions.	false
+631f71e360c3acd841d0369fe23b2f65f11f754a	The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, @DISEASE$, and @PHENOTYPICFEATURE$, but with absence of skin lesions.	false
+445ffdbe222f0da7d5a4997449fb3a1f47d1db4c	The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, @PHENOTYPICFEATURE$, @DISEASE$, and corpus callosum agenesia, but with absence of skin lesions.	false
+97793ecfcf2dbf8b5b705e64f2a6e1c48faa1316	We report the prenatal detection of the @DISEASE$ by ultrasonography in a fetus with @PHENOTYPICFEATURE$ and mild ventriculomegaly.	has_symptom
+f7ff2f6329ac54bae7479eff1b748273c78c070f	Gorlin-Goltz syndrome, also named @DISEASE$, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as @PHENOTYPICFEATURE$, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	has_symptom
+caff94111ae3a3d36e774b66240ed33f49989e7e	@DISEASE$, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as @PHENOTYPICFEATURE$, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	has_symptom
+6248d9ef4ec7f8c0516d4fc91ac7323ea7d682b3	@DISEASE$, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, @PHENOTYPICFEATURE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+9fa5932d66364242e9652bdc1cf3f2c5a5ddb4c0	Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as @DISEASE$, facial asymmetry, @PHENOTYPICFEATURE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+804dca71927463a0cff4a94eec2515dd2b8d32b7	Gorlin-Goltz syndrome, also named @DISEASE$, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, @PHENOTYPICFEATURE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+269c1d281ba90e426bd3fcb49e83bf8d20b10c20	Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant @DISEASE$ characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, @PHENOTYPICFEATURE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+06ee7fe484634d9073b36ae8449b60abd2d1060a	Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of @DISEASE$ at a young age, odontogenic keratocysts, skeletal anomalies, @PHENOTYPICFEATURE$, and dysmorphisms.	has_symptom
+2be12f351516d9e7ed41c029dcd198fcc8d7188b	Gorlin syndrome, also known as @DISEASE$ (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, @PHENOTYPICFEATURE$, and dysmorphisms.	has_symptom
+4a8c9cc4c60f9eeda004a836c331e5c6cf251d3d	@DISEASE$, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, @PHENOTYPICFEATURE$, and dysmorphisms.	has_symptom
+8c14da3158e6f8bcc797d0ddc5bf54fc6b6c2de3	Gorlin syndrome, also known as @DISEASE$ (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, @PHENOTYPICFEATURE$, macrocephaly, and dysmorphisms.	false
+d25c2815f45607fe210c0deb3fbe9fc9c8f20e6f	Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant @DISEASE$, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, @PHENOTYPICFEATURE$, macrocephaly, and dysmorphisms.	false
+32e02ae28176518ea6a20f88083a4b6227ad1e21	Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of @DISEASE$ at a young age, odontogenic keratocysts, @PHENOTYPICFEATURE$, macrocephaly, and dysmorphisms.	false
+650bf756bcc01545eaff99507fd370c1bc15452c	@DISEASE$, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, @PHENOTYPICFEATURE$, macrocephaly, and dysmorphisms.	false
+23e242412764606a7ac0425c7cbe97427beff0e3	Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphisms.	false
+171151b31bc77a7f17b809cb88af3a8d5a315399	Man with @PHENOTYPICFEATURE$, learning disability and @DISEASE$.	has_symptom
+bdaafcb684c40c6fe68fb58123b0346171f41e40	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (@PHENOTYPICFEATURE$, cleft lip/palate and severe eye anomalies).	has_symptom
+f73392d50d718d1e715fc88990da22374fd6bd13	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial @PHENOTYPICFEATURE$, and facial dysmorphism (macrocephaly, @DISEASE$ and severe eye anomalies).	false
+e47ef0d14394226c92687f30bd6161d6daa88a85	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial @PHENOTYPICFEATURE$, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies).	false
+3b5b35127d48fcfb35a14f2a51345c6746e71407	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, @PHENOTYPICFEATURE$, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies).	false
+2817dff0c0da15c94a0daea7fe8621c9e95c481d	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, @PHENOTYPICFEATURE$, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies).	false
+a76ca4200b87565c62764e3861bd0b48f63155fd	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, @PHENOTYPICFEATURE$, intracranial ectopic calcifications, and facial dysmorphism (@DISEASE$, cleft lip/palate and severe eye anomalies).	false
+298824f2bb6cf60e99cb27a79c2884f06b7f5ece	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, @PHENOTYPICFEATURE$, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, @DISEASE$ and severe eye anomalies).	false
+be44d991a780c97cbd0c95ac35eab56256b4b0fa	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and @PHENOTYPICFEATURE$ (macrocephaly, cleft lip/palate and severe eye anomalies).	false
+14a4b9b026361d470cf27f3fba7c5bc26122a642	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and @PHENOTYPICFEATURE$ (macrocephaly, @DISEASE$ and severe eye anomalies).	false
+c70f9139f306f1997ca850f0e49921dd2e2c8c76	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, @PHENOTYPICFEATURE$, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, @DISEASE$ and severe eye anomalies).	false
+79593fb9b36a0bc18ceec0ba1c455445c2218240	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial @PHENOTYPICFEATURE$, and facial dysmorphism (@DISEASE$, cleft lip/palate and severe eye anomalies).	false
+2e0290b188b3e22e429c065ace2c40f1eda9f951	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, @PHENOTYPICFEATURE$, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (@DISEASE$, cleft lip/palate and severe eye anomalies).	false
+617908947bc6028e53e00247ef1743389f056b3f	Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and @PHENOTYPICFEATURE$ (@DISEASE$, cleft lip/palate and severe eye anomalies).	false
+63d2d58a8e948f12b4ea831aa7cdb3a331904c85	@DISEASE$ (IVA) is characterized by periodic @PHENOTYPICFEATURE$, lethargy, coma, ketoacidosis and a 'sweaty feet' odor.	has_symptom
+f76763ffeef62625845b54ad0312ffeca034b730	@DISEASE$ may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, @PHENOTYPICFEATURE$ and altered mental status.	has_symptom
+4b2c94ee02832d3669a31bad7337cc7335ea0b39	@DISEASE$ may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and @PHENOTYPICFEATURE$ and may lead to coma and death in the first 2 months of life.	has_symptom
+e84e63db1e1a34d5bcaf38038b996d57d3170677	@DISEASE$ 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic @PHENOTYPICFEATURE$, and neurological symptoms.	has_symptom
+7a3001ef95909a3a480897f1526b1e46b3d240ca	Timothy syndrome 1 (TS1) is a rare @DISEASE$ characterized by multisystem abnormalities including QT prolongation, congenital heart defects, @PHENOTYPICFEATURE$, episodic hypoglycemia, and neurological symptoms.	false
+b21f2c1863f373b03a206f290d997992fc382ebb	@DISEASE$ 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, @PHENOTYPICFEATURE$, episodic hypoglycemia, and neurological symptoms.	false
+92dfedb2386faa90a35be34c14d8aa58eb62176a	@DISEASE$ 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, @PHENOTYPICFEATURE$, facial dysmorphism, episodic hypoglycemia, and neurological symptoms.	false
+1aadeeb5b13bcefc6428dbaa6e51fb786cda482e	Timothy syndrome 1 (TS1) is a rare @DISEASE$ characterized by multisystem abnormalities including QT prolongation, @PHENOTYPICFEATURE$, facial dysmorphism, episodic hypoglycemia, and neurological symptoms.	false
+c5e83e7b806c1a3a940eb344ecbd45a0a801b254	Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, @PHENOTYPICFEATURE$, episodic @DISEASE$, and neurological symptoms.	false
+9e5c86895a03ec5c4c5a41f1572298dd08b0b981	Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, @PHENOTYPICFEATURE$, facial dysmorphism, episodic @DISEASE$, and neurological symptoms.	false
+8891532ee1bbfdbce78bd2d9b344ea8bfb3b79b7	A variant of @DISEASE$: a Japanese boy with profound deafness, cataracts, @PHENOTYPICFEATURE$, and brachycephaly without craniosynostosis.	has_symptom
+92d2cebfe2d58395f2942e3ffa7067bc1fe57b3a	A variant of @DISEASE$: a Japanese boy with profound @PHENOTYPICFEATURE$, cataracts, mental retardation, and brachycephaly without craniosynostosis.	false
+c3bcb89c97324fd551d57a87e2b312b12df14f9f	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound @PHENOTYPICFEATURE$, cataracts, @DISEASE$, and brachycephaly without craniosynostosis.	false
+d0bbff549558b30fd3ca8fccfd5fca315ed8381d	A variant of @DISEASE$: a Japanese boy with profound deafness, @PHENOTYPICFEATURE$, mental retardation, and brachycephaly without craniosynostosis.	false
+c689e47c5da7c4d38103737ba0b73c330fce5f9e	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound @PHENOTYPICFEATURE$, cataracts, mental retardation, and brachycephaly without @DISEASE$.	false
+1b1118f14fd4837e0f75e6a346c4b3366d5e4c6e	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, @PHENOTYPICFEATURE$, @DISEASE$, and brachycephaly without craniosynostosis.	false
+4c53f3daab3c5e7f6870214bff7f231326fad887	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, @PHENOTYPICFEATURE$, mental retardation, and brachycephaly without @DISEASE$.	false
+a1fb239f433ec11363f5d5387bf419d2394ed7fc	Features present in one or both of our patients, and the majority of previously described individuals with @DISEASE$, include: craniosynostosis/abnormal calvaria, prominent frontal bones, flat facial profiles, small noses, microstomia, hearing loss, developmental delay/@PHENOTYPICFEATURE$, and abnormal digits.	has_symptom
+b8fe6b017a9fee0b48c6e4d1a3964c8c837ac921	@DISEASE$: a fourth patient with brachycephaly, deafness, cataract, microstomia and @PHENOTYPICFEATURE$.	has_symptom
+b47435d8480ad40c8632f3393560a9efa0251913	@DISEASE$: a fourth patient with brachycephaly, deafness, @PHENOTYPICFEATURE$, microstomia and mental retardation.	false
+a79375f2b9eee23dc2fb47872dea273e1dae2fb5	Fine-Lubinsky syndrome: a fourth patient with brachycephaly, @PHENOTYPICFEATURE$, cataract, microstomia and @DISEASE$.	false
+a6120fac3d659f59b681796a839859a82f173528	@DISEASE$: a fourth patient with brachycephaly, @PHENOTYPICFEATURE$, cataract, microstomia and mental retardation.	false
+85d57e0a7814114627e37f7422ffa0914d2d7510	Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, @PHENOTYPICFEATURE$, microstomia and @DISEASE$.	false
+3eed3acefc9175f3eeb4ba1b92d9e52e9dfb325b	Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, @DISEASE$, characterized by @PHENOTYPICFEATURE$, mental retardation and hepatosplenomegaly.	has_symptom
+46f635e8866e7f5122a4020c6c76f5c7edd4be47	Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, sialidosis type II, characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hepatosplenomegaly.	false
+e30801ca4e6bcfe59f50ef2e59e3cac3b6e3c61f	Sialidosis includes two main clinical variants: late-onset, @DISEASE$ type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, sialidosis type II, characterized by skeletal dysplasia, @PHENOTYPICFEATURE$ and hepatosplenomegaly.	false
+744bcfae3b5f4ce4c520cd05a39d6d60617c0497	Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, @DISEASE$, characterized by skeletal dysplasia, @PHENOTYPICFEATURE$ and hepatosplenomegaly.	false
+e83b3ea5a9539a295bcfafebbc23d8cf14c8c4e2	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, mental retardation, and hepatosplenomegaly (@DISEASE$).	has_symptom
+bb7504ea1a8b1c890d1e0899cf561ef3f9855458	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with skeletal dysplasia, Hurler-like phenotype, @DISEASE$, @PHENOTYPICFEATURE$, and hepatosplenomegaly (sialidosis type II).	false
+73c6b1cf183755f20122a52a5c13ba53a247c2ad	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (@DISEASE$ type I) or with skeletal dysplasia, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$, and hepatosplenomegaly (sialidosis type II).	false
+4a5f0faa352559374523618518ef70646e4fba27	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with skeletal dysplasia, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$, and hepatosplenomegaly (@DISEASE$).	false
+f0dbd50ac70b135ea0e2158ab114ad3a9b085281	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with @DISEASE$, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$, and hepatosplenomegaly (sialidosis type II).	false
+685cb74333e64529cc6139ba0d7b3455739e302e	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, mental retardation and hepatosplenomegaly (@DISEASE$).	has_symptom
+b83834bc6a819f1cd4ae8bdfb7ffef9ba2ca8491	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (@DISEASE$ type I) or with skeletal dysplasia, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$ and hepatosplenomegaly (sialidosis type II).	false
+dc0a368492f8c27841079d528feeff0d3f511884	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with skeletal dysplasia, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$ and hepatosplenomegaly (@DISEASE$).	false
+1be7bbf91ee05ec3208b37e7297a2b50a37cb2d0	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with skeletal dysplasia, Hurler-like phenotype, @DISEASE$, @PHENOTYPICFEATURE$ and hepatosplenomegaly (sialidosis type II).	false
+4bad85eacc49f17b2b1de4f455cdbf99537db8f0	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with @DISEASE$, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$ and hepatosplenomegaly (sialidosis type II).	false
+a32a3f51fb34c8a8d13c3fc3e580065a397e95c2	We report a female @DISEASE$ patient presenting with @PHENOTYPICFEATURE$ and hypersegmented neutrophils, previously undescribed features in this disorder, and potential diagnostic clues to differentiate ATLD from other conditions.	has_symptom
+a26306afcc4f8e0c6295eb8fc3315d1da3e3b4fe	We report a female ATLD patient presenting with @PHENOTYPICFEATURE$ and hypersegmented neutrophils, previously undescribed features in this disorder, and potential diagnostic clues to differentiate @DISEASE$ from other conditions.	has_symptom
+bd97ca8bea90fe06f705d6d558dda3c921f1fc0e	@PHENOTYPICFEATURE$ and hypersegmented neutrophils in a patient with @DISEASE$: potential diagnostic clues?	has_symptom
+574f3036f0c38deefe882696617db04240504199	@DISEASE$ (NF1) is an @PHENOTYPICFEATURE$ disorder caused by mutation in the NF1 tumor-suppressor gene, and may sometimes manifest in a mosaic form.	has_symptom
+ab0f8960ac535f1e6b502eb3c9ed69c940ee6aee	Neurofibromatosis type 1 (NF1) is an @DISEASE$ disorder caused by mutation in the NF1 @PHENOTYPICFEATURE$-suppressor gene, and may sometimes manifest in a mosaic form.	false
+16d72b6dae1bb6db521c737bba8883df61cd7c01	@DISEASE$ (NF1) is an autosomal dominant disorder caused by mutation in the NF1 @PHENOTYPICFEATURE$-suppressor gene, and may sometimes manifest in a mosaic form.	false
+abf7a6394b5b825b6e3bee65a27fae4892eb8ffe	Neurofibromatosis type 1 (NF1) is an autosomal dominant @DISEASE$ caused by mutation in the NF1 @PHENOTYPICFEATURE$-suppressor gene, and may sometimes manifest in a mosaic form.	false
+2fd1aa7c190296d2ddaecfb70253ea58e136b163	In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: microcephaly, prominent occiput, very low set and posteriorly rotated ears, @PHENOTYPICFEATURE$, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and @DISEASE$.	has_symptom
+0f9a17d96c9f2bee2686b68df2bb137516581630	In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: @PHENOTYPICFEATURE$, prominent occiput, very low set and posteriorly rotated ears, hypertelorism, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and @DISEASE$.	false
+6ab5caf3c1689582710147b5f4d0a5fa82290ea4	In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: @PHENOTYPICFEATURE$, prominent occiput, very low set and posteriorly rotated ears, @DISEASE$, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and club foot.	false
+954158f5d32c1ba0a27b778c72330d25a842477e	She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with @PHENOTYPICFEATURE$, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a @DISEASE$ deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns.	has_symptom
+e33bd5274e2cc86775b2aa20d8a9d7c0e60d4331	She had a short stature, @PHENOTYPICFEATURE$ and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short @DISEASE$ lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns.	false
+c5f63bfa494a28c45352d29f741367c86d320f07	She had a short stature, @PHENOTYPICFEATURE$ and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a @DISEASE$ deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns.	false
+c8b90c8578ff8a074fb1504fde66bcebca06dba5	She had a short stature, @PHENOTYPICFEATURE$ and the following abnormal clinical findings: peculiar face with @DISEASE$, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns.	false
+e5128529998ba35cf5c62ee44227a7d0e640e4c3	She had a short stature, @PHENOTYPICFEATURE$ and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched @DISEASE$; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns.	false
+267ca173444f39d417cda1d1a1e6b3241ce8f147	Physical examination revealed pectus carinatum; facial deformity and macroglossia; @PHENOTYPICFEATURE$ and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and @DISEASE$.	has_symptom
+10f30e5837d470308d939ed7fe4fa5b3934c10b9	Physical examination revealed @PHENOTYPICFEATURE$; facial deformity and @DISEASE$; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and club foot.	false
+1f0c8f8c44daa9d5b5c2b5f8558517866ce83b26	Physical examination revealed @PHENOTYPICFEATURE$; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe @DISEASE$ of elbows, knees and wrists, coxa valga, and club foot.	false
+9dd5a1311b079aa6773e13e9442a1d0e421e9461	Physical examination revealed @PHENOTYPICFEATURE$; facial deformity and macroglossia; @DISEASE$ and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and club foot.	false
+1140cbae6da752ae90bad353bf3ed9df0ffc3a8e	Physical examination revealed @PHENOTYPICFEATURE$; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and @DISEASE$.	false
+62299396e2a11a20c7cc6350a91c6942ab5a09b4	Physical examination revealed @PHENOTYPICFEATURE$; @DISEASE$ deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and club foot.	false
+d7052462d32f77b01d199abc58800f5bf5378023	In contrast, heterozygous gain-of-function missense mutations, mainly localized at the C terminus, cause dominant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), or @DISEASE$ (MWKS), which encompass contractures of hands and feet, scoliosis, ophthalmoplegia, and @PHENOTYPICFEATURE$.	has_symptom
+ba540b1eba54a5ebd6db88c44fda1698209f8933	Overall, 82% of our patients received immunosuppressants for at least 1 year, with frequencies varying according to disease severity, from 93-95% of those with @DISEASE$ or MuSK antibodies to 72% in ocular @PHENOTYPICFEATURE$.	has_symptom
+d3ecc7d35d1c07d9e6b96a5cc3f6b6239b408616	Thymic lymphoepithelioma-like carcinoma associated with @DISEASE$ in a patient with ocular @PHENOTYPICFEATURE$.	has_symptom
+6e79bd1e9a9d5c47c9a1e5c1d16567ffa493ddbf	To evaluate the association between having non-@DISEASE$ @PHENOTYPICFEATURE$ and the risk of extra-thymic cancer in a population-based setting.	has_symptom
+ec8e6b3cc9626f25c82016a44dd530d7a0c9bfde	[Progressive @PHENOTYPICFEATURE$ cerebellar ataxia as a manifestation of @DISEASE$].	has_symptom
+707bad094b29257c2b47afb46ecbeeef16bd757b	[Progressive myoclonic @PHENOTYPICFEATURE$ as a manifestation of @DISEASE$].	false
+d44627dc8ba83887809b4e3edbc34a7f3a97c1d1	[Progressive @DISEASE$ @PHENOTYPICFEATURE$ as a manifestation of Creutzfeldt-Jakob disease].	false
+7209d79357b1d6180194e3e300df758694f46677	The clinical phenotype was characterized by early age of onset of 47 years, and rapidly progressive cerebellar ataxia, @PHENOTYPICFEATURE$, rigidity, and dementia reminiscent of Creutzfeldt-Jakob disease (@DISEASE$), followed by a prolonged persistent vegetative state.	has_symptom
+7f5ffbca0913a14a097c605f9e7d4b416c000a11	The clinical phenotype was characterized by early age of onset of 47 years, and rapidly progressive cerebellar ataxia, @PHENOTYPICFEATURE$, rigidity, and dementia reminiscent of @DISEASE$ (CJD), followed by a prolonged persistent vegetative state.	has_symptom
+1d2407c63b9bd64bce30218484841c89cdc76239	We present a rare case of Heidenhain variant of @DISEASE$, occurring in a 55-year-old lady presenting with dementia, cortical blindness, and @PHENOTYPICFEATURE$.	has_symptom
+6d23b0560872db507f3fdb7796afcd0b95a7b009	We report a family in which four patients developed classical clinical signs of @DISEASE$, including severe cognitive decline, cerebellar signs, @PHENOTYPICFEATURE$, and synchronic periodic discharges on electroencephalogram.	has_symptom
+d569187972bb5f0817c333c91b8f0f2a3817fafe	We report a family in which four patients developed classical clinical signs of @DISEASE$, including severe cognitive decline, @PHENOTYPICFEATURE$, myoclonic jerks, and synchronic periodic discharges on electroencephalogram.	false
+d87b82c7df5499739cf4d30a913bf226cbd98536	We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive decline, @PHENOTYPICFEATURE$, @DISEASE$, and synchronic periodic discharges on electroencephalogram.	false
+685d177e5c883473f574c5119d12c568e7371926	Our observations on the basis of standard polygraphic criteria suggest that @DISEASE$ associates with a remarkable variety of @PHENOTYPICFEATURE$, and therefore different brain structures are probably involved as generators.	has_symptom
+bc3fe0109f37e1e766144c02f8575641a8bc3005	We studied this @DISEASE$ patient electrophysiologically, in comparison with two patients with cortical reflex positive myoclonus due to benign adult familial @PHENOTYPICFEATURE$ epilepsy (BAFME).	has_symptom
+84b21f69229794735684a1ea6c058628ef7ecd78	Creutzfeldt-Jakob disease (@DISEASE$) is a transmissible disease of the nervous system causatively related to the presence of an abnormal prion protein, with dementia, @PHENOTYPICFEATURE$, and periodic EEG activity.	has_symptom
+7bd5f8c6fe7c55e88dd97fcd27842bf8029228ae	@DISEASE$ (CJD) is a transmissible disease of the nervous system causatively related to the presence of an abnormal prion protein, with dementia, @PHENOTYPICFEATURE$, and periodic EEG activity.	has_symptom
+f23422db87eab8e12e3b116554bb5bae2dc0b89a	One patient with occipital variant of @DISEASE$ presented with acute onset cortical blindness and @PHENOTYPICFEATURE$.	has_symptom
+69913d7ba4c239bfa1eafffccc407b0697b488a6	This may suggest a link between @PHENOTYPICFEATURE$ encephalopathy of infants and CJD, and an incubation period of more than 40 years of the transmissible agent of @DISEASE$.	has_symptom
+f5c65de820a3e28a52cce096778821b0bab259d1	This may suggest a link between @PHENOTYPICFEATURE$ encephalopathy of infants and @DISEASE$, and an incubation period of more than 40 years of the transmissible agent of CJD.	has_symptom
+b0e86bb48a4539d21d8a2b4cba5e713b2e324332	This may suggest a link between myoclonic @PHENOTYPICFEATURE$ of infants and @DISEASE$, and an incubation period of more than 40 years of the transmissible agent of CJD.	false
+ba4e2569a5aaa681d60dad503eff92c34d07ce57	This may suggest a link between myoclonic @PHENOTYPICFEATURE$ of infants and CJD, and an incubation period of more than 40 years of the transmissible agent of @DISEASE$.	false
+bddd5778696179fb747a83c2ea4b246df6f15f0e	This may suggest a link between @DISEASE$ @PHENOTYPICFEATURE$ of infants and CJD, and an incubation period of more than 40 years of the transmissible agent of CJD.	false
+e504836661b14cac66f296b4ea7857d6feafa63b	We describe a 60-year-old woman with "probable" sporadic Creutzfeldt-Jacob disease (@DISEASE$) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and gait abnormality, excessive sleepiness and @PHENOTYPICFEATURE$.	has_symptom
+7bbc56b9c71fe60d9247bd5336a2bb712911c8b3	We describe a 60-year-old woman with "probable" sporadic @DISEASE$ (CJD) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and gait abnormality, excessive sleepiness and @PHENOTYPICFEATURE$.	has_symptom
+e5f22aea9e4a2892098b7ecc9e8268b0b3844773	We describe a 60-year-old woman with "probable" sporadic @DISEASE$ (CJD) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and @PHENOTYPICFEATURE$, excessive sleepiness and myoclonic jerks.	false
+4e01a8bfa7193060f87cbee2dfac15407e7026c3	We describe a 60-year-old woman with "probable" sporadic Creutzfeldt-Jacob disease (CJD) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and @PHENOTYPICFEATURE$, excessive sleepiness and @DISEASE$.	false
+6063dd63daa16f52624c3ed1d9978ec5c0e8d8b6	We describe a 60-year-old woman with "probable" sporadic Creutzfeldt-Jacob disease (CJD) who manifested with two months history of rapidly progressive @DISEASE$ and abnormal behavior, speech and @PHENOTYPICFEATURE$, excessive sleepiness and myoclonic jerks.	false
+2718085980ad32a1ff8ea6402b1b8cdfc9e06057	We describe a 60-year-old woman with "probable" sporadic Creutzfeldt-Jacob disease (@DISEASE$) who manifested with two months history of rapidly progressive dementia and abnormal behavior, speech and @PHENOTYPICFEATURE$, excessive sleepiness and myoclonic jerks.	false
+ae0c0dd82b0071f7e60af3a08ebfc12e4eb74180	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, infantile hypotonia, progressive spasticity and recurrent infections.	has_symptom
+d8ff9609a756b6a5b8c3096cced4a5860aba752d	@DISEASE$ should therefore be included when screening for enzyme abnormalities in patients with ACD, even in the absence of neurologic disorders or @PHENOTYPICFEATURE$.	has_symptom
+b3f3ddebdb2bfd72680b7e0398aa12ce89147831	@DISEASE$ is a rare inborn error of metabolism with various phenotypes, including @PHENOTYPICFEATURE$, behavioral problems, hearing loss, and recurrent airway infections in childhood.	has_symptom
+6e63ea823dd3aa89e4cf51798404a2f0c9fd9087	@DISEASE$ - a case report of a family with isolated @PHENOTYPICFEATURE$.	has_symptom
+966c10e52760ec64abfaf5b1957a528cf4cbd83e	Variants in LRP4 have been previously associated with @PHENOTYPICFEATURE$ in @DISEASE$ and Sclerosteosis 2, but have not been reported in individuals with isolated syndactyly.	has_symptom
+f7155ff1a94bee58d6f62ed30f98f5be98a4a292	Variants in LRP4 have been previously associated with syndactyly in @DISEASE$ and Sclerosteosis 2, but have not been reported in individuals with isolated @PHENOTYPICFEATURE$.	has_symptom
+f0463055ab2b14be745067545c5e0768c2cbd5dd	@PHENOTYPICFEATURE$ is a clinical feature of split-hand foot malformation (SHFM), ectodermal-dysplasia-syndactyly (EDSS1), and @DISEASE$ syndromes (CLSS).	has_symptom
+87865661c719d198a52346840a988fbec25f8ec5	Syndactyly is a clinical feature of split-hand foot malformation (SHFM), ectodermal-dysplasia-@PHENOTYPICFEATURE$ (EDSS1), and @DISEASE$ syndromes (CLSS).	has_symptom
+a5cb81e54ac6d66d668be262de5098ac707144d3	Though reported as being a main feature of @DISEASE$, there seems to be phenotypic variability regarding this facial @PHENOTYPICFEATURE$ among patients.	has_symptom
+9b616754ff5a205fd7babe6285e9c3ec105c9100	We have recently described a family with a condition (@DISEASE$ (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly and occasional pre-axial @PHENOTYPICFEATURE$.	has_symptom
+8e973f335b9524f39ffcea8b4d36655091996c8c	We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild @PHENOTYPICFEATURE$ and occasional pre-axial @DISEASE$.	false
+52d7e28762a23d41505db1f3382006fe6d467eb1	We have recently described a family with a condition (@DISEASE$ (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild @PHENOTYPICFEATURE$ and occasional pre-axial polydactyly.	false
+c518880e86ad4ea8fa6f7633a603163c042caf54	@DISEASE$ (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and @PHENOTYPICFEATURE$ and multiple vertebral anomalies.	has_symptom
+90663ff76b800ac301db358bfffe2e8cac068392	Jarcho-Levin syndrome (spondylothoracic or @DISEASE$) is an eponym that is used to define individuals with a short neck, short trunk, and @PHENOTYPICFEATURE$ and multiple vertebral anomalies.	has_symptom
+4060ef84550955af3aedb083c3a3beaaedfc4349	Jarcho-Levin syndrome (spondylothoracic or @DISEASE$) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+7e6324b57182622701c801fe4f76d3460e028a49	@DISEASE$ (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+5268a486a468884b247f69c2797392da01a0d938	Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and @DISEASE$ and multiple @PHENOTYPICFEATURE$.	false
+5865a5a039813096319e79eaccda46699e74474a	Features of @DISEASE$ were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 vertebral anomalies; (3) frequent vertebral anomalies were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) @PHENOTYPICFEATURE$ was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	has_symptom
+ee5315ca36855f9dc4606c19251a16dfa9dfc6b3	Features of spondylocostal dysostosis were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 @PHENOTYPICFEATURE$; (3) frequent vertebral anomalies were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) @DISEASE$ was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	false
+0c309c8c065d90f694f195d87dc1fb9496d33b10	Features of @DISEASE$ were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 @PHENOTYPICFEATURE$; (3) frequent vertebral anomalies were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) short stature was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	false
+48c2fd47f0d16696ba122b4af3461dd01304bf24	Features of @DISEASE$ were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 vertebral anomalies; (3) frequent @PHENOTYPICFEATURE$ were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) short stature was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	false
+e72f6a92fbb927a4a95529d1c915f0597acc2082	Features of spondylocostal dysostosis were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 vertebral anomalies; (3) frequent @PHENOTYPICFEATURE$ were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) @DISEASE$ was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	false
+827cd795693225954a4d4246cb26432f4997ea57	Individuals with @DISEASE$ have vertebral malformations, frequent dramatic rib malformations, and @PHENOTYPICFEATURE$, but do not have a fanlike thoracic configuration.	has_symptom
+8fdb92ff95aeae4b39a78445956b9f9920ae3d7a	@DISEASE$ is a rare condition characterized by @PHENOTYPICFEATURE$ due to a short trunk, multiple morphological abnormalities of the vertebrae and ribs due to malsegmentation of the axial skeleton.	has_symptom
+5b261fbc48df661bd6201d138b1e9e069590e918	the aim of this study was to study systematically social, communication, and repetitive/restrictive (SCRR) behavioural difficulties and clinical autism spectrum disorder (ASD) in children with optic nerve hypoplasia (ONH) and/or @DISEASE$ (SOD), and to investigate the relationship between @PHENOTYPICFEATURE$, SCRR difficulties, ASD, and cognition.	has_symptom
+363631389495893816d532f3f675281ea8213352	the aim of this study was to study systematically social, communication, and repetitive/restrictive (SCRR) behavioural difficulties and clinical autism spectrum disorder (ASD) in children with optic nerve hypoplasia (ONH) and/or septo-optic dysplasia (@DISEASE$), and to investigate the relationship between @PHENOTYPICFEATURE$, SCRR difficulties, ASD, and cognition.	has_symptom
+9f43d38aae2fbf1671942849d13715f2b7a934e5	@DISEASE$ (SOD) comprises ophthalmological, endocrinological and neurological disorders resulting from varying degrees of midline malformation of the forebrain like @PHENOTYPICFEATURE$ by optic nerve hypoplasia, endocrine deficits due to hypothalamic and/or pituitary anomalies, and psychomental retardation by associated cortical malformation.	has_symptom
+593a3b0b22b995a742a97cabe674290954b24ee2	Septo-optic dysplasia (@DISEASE$) comprises ophthalmological, endocrinological and neurological disorders resulting from varying degrees of midline malformation of the forebrain like @PHENOTYPICFEATURE$ by optic nerve hypoplasia, endocrine deficits due to hypothalamic and/or pituitary anomalies, and psychomental retardation by associated cortical malformation.	has_symptom
+07af7d7b814c5a82a2d5be5a9b75d3c6045140f4	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, @DISEASE$, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	has_symptom
+ba210b77677c495a56a987eaec5f7c7c90c27f2d	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, @DISEASE$, and congenital Zika syndrome.	false
+dd04d9ff4546317b80b8591e480d05c072b91b91	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, @DISEASE$, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+b9e8fbadf902aa6100eb43daddcb5689d0619c95	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+d8800e6823f40d635bab9841b8e93ae3798100e8	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, @DISEASE$, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+d4c3ed9aae2fe1df763abd69fdf1a27831b4c13a	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+732ee232b111a93a2725815a7521093634855cbf	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, @DISEASE$, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+017897f90f5ded8fe1de5e33bdea447d1cd3a5b8	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, @DISEASE$, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+f832e848bdf952d91222025da7f2986ac6423880	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, @DISEASE$, and congenital Zika syndrome.	false
+c8a82fc1a12ca834319677eedd4d63cebef4e640	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika @DISEASE$.	false
+593db3deec0c48a61b10a52e06992316b8851ee9	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @DISEASE$, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+71540f28542de6c594131601995a019820447188	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+c6e859dd9e56dc8538902520d7c73d9d15e3b111	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, @DISEASE$, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+f4e35e8d6f0c85d9665005405b583a32ca9eaf34	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika @DISEASE$.	false
+6a82f49ef27ae84eea9560a9c670f9bc6d3b8eea	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @DISEASE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+a5d9e991d39ab52f5c3b6c2f5aaa99b6432c9905	Children with ONH and/or @DISEASE$ and visual impairment have a similar risk of developing clinical ASD as other @PHENOTYPICFEATURE$ groups.	has_symptom
+64c5e973f54761e336fbf33578b6f84be1495a0e	Children with ONH and/or @DISEASE$ and @PHENOTYPICFEATURE$ have a similar risk of developing clinical ASD as other visual impairment groups.	has_symptom
+b5b28c51ffda0ed52b5f7d4f7b4fa045955faddc	a total of 45 females and 38 males (mean age 3y 5mo; range 10mo-6y 10mo) with ONH or @DISEASE$ and profound @PHENOTYPICFEATURE$ (PVI) or severe visual impairment (SVI) were assessed.	has_symptom
+874197137c34f69c2324e7d46fa5e76ed6d84822	The phenotype of @DISEASE$ is highly variable; the clinical picture may include @PHENOTYPICFEATURE$, short stature, obesity and sleep-wake inversion.	has_symptom
+139587516a52e8b5108bdef99297ad99f6c8b960	The phenotype of SOD is highly variable; the clinical picture may include @DISEASE$, short stature, @PHENOTYPICFEATURE$ and sleep-wake inversion.	false
+8dfc6c74178248d59e772bb2fbafc1496b2203fa	The phenotype of @DISEASE$ is highly variable; the clinical picture may include visual impairment, @PHENOTYPICFEATURE$, obesity and sleep-wake inversion.	false
+d17050fa2dccb33e72d51d1e56fdde3f01636ae4	The phenotype of SOD is highly variable; the clinical picture may include @DISEASE$, @PHENOTYPICFEATURE$, obesity and sleep-wake inversion.	false
+d1af748249efdea15bc3a5b1c4bceb972e538dff	The phenotype of @DISEASE$ is highly variable; the clinical picture may include visual impairment, short stature, @PHENOTYPICFEATURE$ and sleep-wake inversion.	false
+bf8ce3b06b89c44a3e29885f4f5754c5da0ea62f	Several conditions such as telogen effluvium (TE), anagen effluvium, diffuse type of alopecia areata, female pattern hair loss, hair shaft abnormalities, loose anagen hair syndrome, and congenital atrichia or @DISEASE$ are associated with @PHENOTYPICFEATURE$.	has_symptom
+4f9358abad163cfe6113196e1eb1c0ec458437a3	The triad of nail dystrophy, @PHENOTYPICFEATURE$ or @DISEASE$ and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition.	has_symptom
+30dfda845a4121792cb5e2774ae50ecce9610035	The triad of nail dystrophy, alopecia or @DISEASE$ and @PHENOTYPICFEATURE$ is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition.	false
+c0ed702016fcff92fb61c624b5c2b558ae6a69ce	The triad of nail dystrophy, @DISEASE$ or hypotrichosis and @PHENOTYPICFEATURE$ is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition.	false
+d74a91cc9c40f08cda836d50e1b9caef3ff9d3bc	The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, @DISEASE$ and frontal @PHENOTYPICFEATURE$, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis.	has_symptom
+ff858975f5fb56ea71379b2d6ca56dfa61e32652	The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal @DISEASE$, hypohydrosis, @PHENOTYPICFEATURE$, nasal bridge prominence, exfoliative dermatitis and xerosis.	false
+de8b10244da0b3551ac9e35ee402c9d7c494d879	The most clinical features are the presence of ectrodactyly, @PHENOTYPICFEATURE$, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, @DISEASE$ and xerosis.	false
+9a213b7e10ef9b6cff38c82ffc2e56aa80c8b711	The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, @DISEASE$ and frontal alopecia, hypohydrosis, @PHENOTYPICFEATURE$, nasal bridge prominence, exfoliative dermatitis and xerosis.	false
+bcb8be16128fe75612f491ad3453863850720df3	The most clinical features are the presence of @PHENOTYPICFEATURE$, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, @DISEASE$ and xerosis.	false
+5e2c9a951e7079a05965f67e033db349d49ab58d	The most clinical features are the presence of @PHENOTYPICFEATURE$, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, @DISEASE$ and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis.	false
+21ffb496a031f65ccf3d2bff898ce17a653d1331	The most clinical features are the presence of @PHENOTYPICFEATURE$, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal @DISEASE$, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis.	false
+a30410da234a33a2e2211b2cdecd9b65ea6d9313	The most clinical features are the presence of ectrodactyly, syndactyly, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal alopecia, hypohydrosis, @PHENOTYPICFEATURE$, nasal bridge prominence, @DISEASE$ and xerosis.	false
+695d6f58ffb8f781c57f11ab45707fd6626e8318	The most clinical features are the presence of ectrodactyly, @PHENOTYPICFEATURE$, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, @DISEASE$ and frontal alopecia, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis.	false
+8f6b6efe58a7ac42b9cd7aac3914570491855360	The most clinical features are the presence of ectrodactyly, @PHENOTYPICFEATURE$, hypermelanosis or multiple lentigines, onhycodysplasia, abnormalities in the lacrimal duct, recurrent conjuntivitis, photophobia, mammarian hypoplasia, hypotrichosis and frontal @DISEASE$, hypohydrosis, cutaneous photosensitivity, nasal bridge prominence, exfoliative dermatitis and xerosis.	false
+7fc4ebbe7f0e7c42a4c18765a88e49db5052b808	For others, such as eyebrow @DISEASE$, monilethrix, early traction @PHENOTYPICFEATURE$, and CIA, there is more support for the efficacy of minoxidil.	has_symptom
+2cbcfb4da6b5d4d20a4ad270b2fe31cb8344b021	Appearances of nail dystrophy, @PHENOTYPICFEATURE$ or @DISEASE$, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth.	has_symptom
+429140c1fc380ad60bee6f6fb2ee2667e9d386c7	Appearances of nail dystrophy, @DISEASE$ or hypotrichosis, saddle nose deformity, and @PHENOTYPICFEATURE$ are usually associated with a lack of sweat glands as well as partial or complete absence of teeth.	false
+4bc53ef58bd9211b146c7735cb3a80c31305f33e	Appearances of nail dystrophy, alopecia or @DISEASE$, saddle nose deformity, and @PHENOTYPICFEATURE$ are usually associated with a lack of sweat glands as well as partial or complete absence of teeth.	false
+f18a72fd9c61572fbbc3bd78f96fe484d313d91d	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (@DISEASE$) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and @PHENOTYPICFEATURE$, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	has_symptom
+c58ff8edd9d49ee8b3fe0ef7b1207df391f73428	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (@DISEASE$) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, @PHENOTYPICFEATURE$, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	false
+9eba39f5d9fd8c59e8344e99941c56a9432d6753	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and @DISEASE$, large ears, @PHENOTYPICFEATURE$, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	false
+64df5c07e0b636262a57a566b43a9d631267f575	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and @DISEASE$, @PHENOTYPICFEATURE$, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	false
+c6ad2a88c52ca0caf73ea56795979e2040aa2474	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (@DISEASE$) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, @PHENOTYPICFEATURE$, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	false
+3695aa28c03ccdcd4be537eeed5ef4c22ac45038	@DISEASE$ (FTHS) is an autosomal-recessive disorder characterized by skeletal, cardio-vascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and @PHENOTYPICFEATURE$.	has_symptom
+98504e84bbd6e82ed675900f20482fb38d235ff3	@DISEASE$ is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including @PHENOTYPICFEATURE$ and brachycephaly.	has_symptom
+5a811ff64eb713e4f35594ed77838e9d8a3dc0a0	@DISEASE$ (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and @PHENOTYPICFEATURE$.	has_symptom
+ae203adfed933d235c99ab7cf6435fe4efcc4775	Frank-Ter Haar syndrome (FTHS), also known as @DISEASE$, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and @PHENOTYPICFEATURE$.	has_symptom
+89dc8ee10d4bcdace8ab53429aeb6e9f9756b4cc	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, @PHENOTYPICFEATURE$, myopia, and sensorineural deafness (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	has_symptom
+adb92a8f400040ea4f5380197ad95b4182697c15	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+42d617faa7ff28362956264c503924c1c2fce507	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, @DISEASE$, myopia, and @PHENOTYPICFEATURE$ (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+7c4c7aa24a93a0c439a90a90ae5414c476a1fd62	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, @DISEASE$, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+afdaf2e9ce8f907d620a9a8e1835f8cfa14d2697	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and @PHENOTYPICFEATURE$ (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of @DISEASE$, but without diaphragmatic hernia.	false
+94b24e6e6fff414af711cd7c1a8f5cf516b158f2	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of @DISEASE$, but without diaphragmatic hernia.	false
+2182dda6b15107b82c5eee15ceaf7bf74ea0c257	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and @PHENOTYPICFEATURE$ (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+d47a5ea4d32b031536c83d5b3e367d46bfcd4193	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, @DISEASE$, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+af1a3f2833603f03ffd32bd3ab3ff78f4b32bb6c	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, @DISEASE$, and @PHENOTYPICFEATURE$ (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+bc3860825ad0828c5875faf6e7b790fedca16771	@DISEASE$ (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major @PHENOTYPICFEATURE$ with bulging eyes), high grade myopia, deafness and low molecular weight proteinuria.	has_symptom
+ab17d7d4cd9f9e1be4381c39bbff73e5cd88f4db	Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade @DISEASE$, @PHENOTYPICFEATURE$ and low molecular weight proteinuria.	false
+34372052d12550e9249b76553b7b02e82c147ef1	@DISEASE$ (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, @PHENOTYPICFEATURE$ and low molecular weight proteinuria.	false
+3a36cfc863fddda7438ccc0452be98f0ee3e2183	Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, @PHENOTYPICFEATURE$ and low molecular weight @DISEASE$.	false
+ecfa3de82855532b6a05bf81f02d83b9e885ee4e	Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major @DISEASE$ with bulging eyes), high grade myopia, @PHENOTYPICFEATURE$ and low molecular weight proteinuria.	false
+5c961c03abefd07671c8e248dffbeac7e82d8bde	@DISEASE$ was described as a hereditary disease characterized by periodic paralysis, prolongation of the QT interval with ventricular arrhythmia and characteristic physical features including low set ear and @PHENOTYPICFEATURE$.	has_symptom
+9e6789ffe20f3313c3a0bfe6eaac8dc646012e2f	Andersen syndrome was described as a hereditary disease characterized by periodic paralysis, prolongation of the QT interval with @PHENOTYPICFEATURE$ and characteristic physical features including low set ear and @DISEASE$.	false
+e887d4f6e9f9d6b12962aea265bd51406b461ad7	@DISEASE$ was described as a hereditary disease characterized by periodic paralysis, prolongation of the QT interval with @PHENOTYPICFEATURE$ and characteristic physical features including low set ear and micrognathia.	false
+44b207fee7758ed6663a24664a9bc2241dedbb55	Andersen syndrome was described as a @DISEASE$ characterized by periodic paralysis, prolongation of the QT interval with @PHENOTYPICFEATURE$ and characteristic physical features including low set ear and micrognathia.	false
+ed9ab6abdfb846c7ca3075d2781ae076052ff7c1	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	has_symptom
+0d9b73034cbe62d8802c80454ba1c0ba8f02fff7	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, @DISEASE$ and broad forehead).	false
+36b2ab88b09003b75c866fc9797f11eb313d8a8e	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+815d0ac2a6b6c0ffd87c3d01f751a601c63ded90	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, @DISEASE$ and broad forehead).	false
+ceaa539415cef75bc56220e59d8301fff3c805fd	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+da7e32a0c2b990d85c68bbee1487d7c57d804c72	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+c51fb70a8194b832479470c7acd11169ddd0d30c	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, micrognathia and broad forehead).	false
+134f5995d8dcc1175a5105b2d91c456229209709	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+763168be71463cc287472d353feb289511ff21c9	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, @DISEASE$ and broad forehead).	false
+731f5ba8d61fe53fc9f4b5eb846866ccd71ad565	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, @DISEASE$, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, micrognathia and broad forehead).	false
+3e5b97e8cdd62d750b9b9cc25143f059ed40ff91	@DISEASE$ is a distinct clinical entity characterized by diarrhea, @PHENOTYPICFEATURE$, hypoproteinemia, and edema.	has_symptom
+9fd1e103db5af9cd42fa761d07d9bbc7e1df282e	Congenital enterokinase deficiency is a distinct clinical entity characterized by @DISEASE$, failure to thrive, hypoproteinemia, and @PHENOTYPICFEATURE$.	false
+dbf42f2bd7184f8b87603c8a3becdab52646e4a8	@DISEASE$ is a distinct clinical entity characterized by diarrhea, failure to thrive, hypoproteinemia, and @PHENOTYPICFEATURE$.	false
+b106d28dc73de3458264783c82721b51b8a040b4	Congenital enterokinase deficiency is a distinct clinical entity characterized by diarrhea, @DISEASE$, hypoproteinemia, and @PHENOTYPICFEATURE$.	false
+d6e9e781351e066871734fe9c3474700be4d12f8	High risk was defined as a diagnosis of @DISEASE$, hypertrophic @PHENOTYPICFEATURE$, ankylosing spondylitis, or history of previous HO.	has_symptom
+7f778d4990fa7d32abc8a94a6eb3fb40361b9127	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	has_symptom
+1766cd1552eaafaff2fd0b039ea2a5299f7de08c	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	has_symptom
+40ff8029d922da16b0b1f92283860813bc78f46d	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	false
+0c1948bedae2d11bec81d64b1dbca3d9a38a64cb	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/@PHENOTYPICFEATURE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+0d21f7a13100f861c8f914c5489fd5966f38e1bb	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/@PHENOTYPICFEATURE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+b4d4c2104b6f2b12208a62aa5ef06448624c3acb	The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to @DISEASE$, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	false
+f6046be06e48bb187de34c58f7a96ab750245398	The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/@PHENOTYPICFEATURE$, moderate to @DISEASE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+46c56c676e103f3ea1ce20efe48ddd9461f5239b	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	false
+29e28ca4da81f432eb5380742a8883566053c644	@DISEASE$ (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	has_symptom
+7d5930c9b0fed4b318ac07f16ad8f27b30c12ec8	Acrocallosal syndrome (@DISEASE$) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	has_symptom
+c6689658a67b8a0d0cd46fcbc58bd08b99036bab	Acrocallosal syndrome (@DISEASE$) is a rare recessive disorder characterised by @PHENOTYPICFEATURE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation.	false
+5d0ea3910f5666cceab4005ecd1ee20eb9ca6d9a	Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by @PHENOTYPICFEATURE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @DISEASE$.	false
+990ad3eafbb52a5888bb62ba17995f7877a2f038	@DISEASE$ (ACLS) is a rare recessive disorder characterised by @PHENOTYPICFEATURE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation.	false
+d3b5e646471596256691d1480ca729d4fbf67ee7	@DISEASE$ (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, syndactyly and @PHENOTYPICFEATURE$.	has_symptom
+14ab12cc6c43e9595c7965b97bf7bea31a149985	Acrocallosal syndrome (@DISEASE$) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, syndactyly and @PHENOTYPICFEATURE$.	has_symptom
+94e3b0deb29526d30d9eb3ba7048af39dd5f388f	Acrocallosal syndrome (@DISEASE$) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+dea4c1cd6a3aba88824d110cadcab57b9f56008b	Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fbf2860d54d852cbebd1dc7a1895449e9027a7a9	Acrocallosal syndrome (@DISEASE$) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial @PHENOTYPICFEATURE$, syndactyly and severe mental retardation.	false
+2c2d1c2750e7e8cb5bcafd878af0445fa30e418a	@DISEASE$ (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+8438f99781cb0dc03141fdc66c06ad4d741d7820	Acrocallosal syndrome (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial @PHENOTYPICFEATURE$, syndactyly and @DISEASE$.	false
+33939091a17b72cdcb938fa43e56f112ae5d6507	@DISEASE$ (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial @PHENOTYPICFEATURE$, syndactyly and severe mental retardation.	false
+e8be9424f3d65caf6a2bb1a04cf8d992da1c27b1	A homozygote for the c.459+1G>A mutation in the ARSA gene presents with @PHENOTYPICFEATURE$ as the only first clinical sign of @DISEASE$.	has_symptom
+ca50a87871ecc1495df2d49683eb64b06fdf154b	Varying numbers of GBs were present, however, in many different diseases, such as Friedreich @PHENOTYPICFEATURE$, Guillain-Barr? syndrome, various polyneuropathies, cervical spondylosis, ataxia telangiectasia, @DISEASE$, and Leigh syndrome.(ABSTRACT	has_symptom
+90d336e3effeeeea9af1d1b8de245a8f931fa57e	We report two siblings of late infantile @DISEASE$ presenting with @PHENOTYPICFEATURE$ as the only first clinical symptom.	has_symptom
+ddce0886582a4a407cd2fad4c9d9619ad7c316f4	Since @PHENOTYPICFEATURE$ is a relatively common but unspecific neurological symptom in toddlers, it is recommended that @DISEASE$ be considered as part of the differential diagnosis even if the initial neuroimaging studies are normal and ataxia is the only clinical symptom of the disease.	has_symptom
+f9267ff07058b11701899f6953708881ab7ca860	Since cerebellar ataxia is a relatively common but unspecific neurological symptom in toddlers, it is recommended that @DISEASE$ be considered as part of the differential diagnosis even if the initial neuroimaging studies are normal and @PHENOTYPICFEATURE$ is the only clinical symptom of the disease.	has_symptom
+7590ddb46795b91b764f8bdfa74cd040e2451b51	These included seizures, absence seizures, @DISEASE$, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar @PHENOTYPICFEATURE$, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	has_symptom
+61c7230d1923b38875d0038b8c2bd990755d6389	These included seizures, @PHENOTYPICFEATURE$, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, @DISEASE$, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+74c13ce1e2df1929228630675ae08074b85be3c4	These included @PHENOTYPICFEATURE$, absence seizures, @DISEASE$, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+80b09a62306a1d71795360201219986e3bf8645c	These included seizures, @PHENOTYPICFEATURE$, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar @DISEASE$, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+11651259cb9fc58cd5ad6e55a3475f89aeef4a91	These included @PHENOTYPICFEATURE$, absence seizures, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar @DISEASE$, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+c990145c97264274153583948314b6d34508779e	These included seizures, @PHENOTYPICFEATURE$, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic @DISEASE$, and malingering, among others.	false
+32f3e848331b802f878510090e16cf532cccba37	These included @PHENOTYPICFEATURE$, absence seizures, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic @DISEASE$, and malingering, among others.	false
+df95de95b991c19c4b46890b61558df62fdb6184	These included @PHENOTYPICFEATURE$, absence seizures, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, @DISEASE$, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+4e52a919c6ccb3592f78f0c1528e2d6e10158770	These included seizures, @PHENOTYPICFEATURE$, @DISEASE$, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+18d4cbb63394fd74fc9b6c2f6b4e3ba234ad53b2	These included seizures, @PHENOTYPICFEATURE$, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, @DISEASE$, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+ffc007527d8c2afb0a6dc0a29f54b2d551618365	These included @PHENOTYPICFEATURE$, absence seizures, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, @DISEASE$, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+8656f278c58ffba5f00a79174024c2b59c480caa	These included seizures, @PHENOTYPICFEATURE$, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, @DISEASE$, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+ca3a650bdf49e6dfd1c9bf7498a122e41b08ed98	These included @PHENOTYPICFEATURE$, absence seizures, metachromatic leukodystrophy, Schilder's disease, cerebral palsy, hemiparkinsonism, @DISEASE$, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+dfec5789d9f97a90df4e0520e6c2fda183d5cb1f	We report on a case of late infantile @DISEASE$ presenting with @PHENOTYPICFEATURE$ as the only first clinical sign preceding even changes in white matter visible in MR imaging.	has_symptom
+aa8169af449b5505f67955eaf3a3551134239ea9	The series included cases with Friedreich's @PHENOTYPICFEATURE$, HSAN I, HMSN I-III, HMSN VI, tomaculous neuropathy, @DISEASE$, ceroidlipofuscinosis, dysproteinemic neuropathies, and myotonic dystrophy, in addition to several neuropathies less-specifically classified as either of a predominantly demyelinating, axonal, or neuronal type.	has_symptom
+c2f8da401e9553a92ffe0b4230d5d3d481d8f439	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @PHENOTYPICFEATURE$, hypertelorism, palatal abnormality, CHD, and ureteral anomalies.	has_symptom
+99bb816f5fdff00aa4739e36bd1ced37dab1a9d7	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @DISEASE$, @PHENOTYPICFEATURE$, palatal abnormality, CHD, and ureteral anomalies.	false
+824bb38e90e405cec2b481adea3e2bcdde5971c9	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6198c4a9031d23e1b3d6c7b945b6e1930992063e	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of @DISEASE$ comprising typical acral synostoses combined with ptosis, @PHENOTYPICFEATURE$, palatal abnormality, CHD, and ureteral anomalies.	false
+a3f30125db14cb4329846eb5e9c1b19d0f6b81c6	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of @DISEASE$ comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+4a9e29f4023c08bd09bde2c07fe1b75ff6eed61f	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, @PHENOTYPICFEATURE$, palatal abnormality, @DISEASE$, and ureteral anomalies.	false
+782a1aa9b43d33170528da44328881929b406594	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, @PHENOTYPICFEATURE$, palatal abnormality, CHD, and ureteral anomalies.	false
+4ce61d9fb64a770ba6857bae08a40aba6bf251cc	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @DISEASE$, hypertelorism, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+fb205298e23297c0d02a9fd595d1d373c3c2c07e	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, @DISEASE$, and ureteral anomalies.	false
+53ef67c60a374fea3d8283437066e88d53c8f3c3	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of @DISEASE$ comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+df26049e9c974d7918eb6a862076b8d074274bc9	Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+af910720bf26838aad24e35c5c02215a21b08c32	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+f9fc9668b3d14c8a8b226a6428be2de6157b55e6	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+ec92d194ee979c1346af83e1627151cc5c161194	To describe a unique posterior fossa neuroimaging characteristic of prenatal @DISEASE$ (PS): unilateral @PHENOTYPICFEATURE$ (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle.	has_symptom
+31112908b09ed3aae4fa007c1846f9faa176706a	Prenatal unilateral @PHENOTYPICFEATURE$ diagnosed as @DISEASE$.	has_symptom
+cd4ce2a7b661e77d6957255a02beb2404b891991	@PHENOTYPICFEATURE$ was studied in distinct types of spinocerebellar ataxia (@DISEASE$): eleven SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls.	has_symptom
+4834ace4d3cb5cdd8e4e49325fa72cab0c60332f	Cognitive impairment was studied in distinct types of spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$): eleven SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls.	false
+d40ecfcaadf70a03ced371e70a61a931bfd46a78	@DISEASE$ was studied in distinct types of spinocerebellar @PHENOTYPICFEATURE$ (SCA): eleven SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls.	false
+bdd2b5d91905fd50983e19af3b5bacca2757660a	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (@DISEASE$) characterized by ataxia with other neurological signs, including oculomotor disturbances, @PHENOTYPICFEATURE$, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	has_symptom
+44ba5dd71ea995d8a235e4b9ffc5a7f33b2e1518	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by @PHENOTYPICFEATURE$ with other neurological signs, including oculomotor disturbances, @DISEASE$, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+e3cdf72852854572c1861eb9ed2a2b2613f58cc7	Type I @DISEASE$ (ADCA) is a type of spinocerebellar @PHENOTYPICFEATURE$ (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+5c3d0db05edf72ac766ab24f1a5b947b66dddb26	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar @PHENOTYPICFEATURE$ (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, @DISEASE$, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+7a93da32aa8bc9216121b5547b15e61b0a1b8b20	Type I @DISEASE$ (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by @PHENOTYPICFEATURE$ with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+bb09863de59af96008a7e5f10801d40ae590447c	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+48af3074d68233ec6ae01282e655de47fb44e814	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (@DISEASE$) characterized by @PHENOTYPICFEATURE$ with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+7a7c9974232b7b244b6cdd5a97766e7e1d5bbade	@PHENOTYPICFEATURE$ is a neurological complication of @DISEASE$ whose pathogenesis is unknown.	has_symptom
+ae41021a7c2787da8bc7fd2a2ee098aea7858f77	Our aim was to investigate whether nocturnal hemoglobin oxygen desaturation and sleep fragmentation could be associated with @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+1693b67bc27d05334ddf8b79e839e656aac8db37	@PHENOTYPICFEATURE$ is a major neurological complication of sickle cell anemia (@DISEASE$) in the United States, but there are limited studies of cognitive impairment in Nigeria, the country with the highest SCA burden.	has_symptom
+e4e7012fb3a5d494801202dcc56f5e850df12fc6	The management of neurodegenerative diseases such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington's disease (HD), spinocerebellar ataxia (@DISEASE$), and spinal muscular atrophy (SMA), is mainly addressed to motor and @PHENOTYPICFEATURE$, with special care to vital functions as breathing and feeding.	has_symptom
+93bad0c5aa7b83cdc2ce4ea9d82b8efbc2d96c9f	The management of neurodegenerative diseases such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, @DISEASE$ (MND), Huntington's disease (HD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and spinal muscular atrophy (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding.	false
+295eda7c86f55db9159b01eabcbe7915ad38f54b	The management of @DISEASE$ such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington's disease (HD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and spinal muscular atrophy (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding.	false
+aea3b00b3d6e915ee0eed4873f1e00afb445b98f	The management of neurodegenerative diseases such as @DISEASE$ (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington's disease (HD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and spinal muscular atrophy (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding.	false
+9025a1213bfc558e2b57f9cc473d07a0e7c161d4	The management of neurodegenerative diseases such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington's disease (HD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and @DISEASE$ (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding.	false
+f8759eabfa767fb0760ae6fc69528ab17f976a7b	The management of neurodegenerative diseases such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington's disease (HD), spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$), and spinal muscular atrophy (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding.	false
+0aac7735dcac54a965793564bee613229d2c7b10	The management of neurodegenerative diseases such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), @DISEASE$ (HD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and spinal muscular atrophy (SMA), is mainly addressed to motor and cognitive impairment, with special care to vital functions as breathing and feeding.	false
+5816ca808d6cc04eb5be7a667e019211f149fc4c	The management of neurodegenerative diseases such as Alzheimer's disease (AD) and other dementias, Parkinson's disease (PD) and PD related disorders, motor neuron diseases (MND), Huntington's disease (HD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and spinal muscular atrophy (SMA), is mainly addressed to motor and @DISEASE$, with special care to vital functions as breathing and feeding.	false
+b7739d5ec56366fb87c0b8f601683e3ce4a78b99	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and @PHENOTYPICFEATURE$; the major findings in SPG2 are leg weakness and spasticity.	has_symptom
+dacba98026647ca53f83bffcb643ea6b0156c0f2	Signs of PMD include nystagmus, hypotonia, tremors, titubation, ataxia, @PHENOTYPICFEATURE$, athetotic movements and @DISEASE$; the major findings in SPG2 are leg weakness and spasticity.	false
+ca37f300151b16a94d2f442366520c459bba1a69	Signs of PMD include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and @DISEASE$; the major findings in SPG2 are leg weakness and @PHENOTYPICFEATURE$.	false
+2e7e31a31e2433c78277a69c471ebfadb21da056	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, @PHENOTYPICFEATURE$, spasticity, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and spasticity.	false
+7048c352d1b4474b6a233fe6e78366353b3ae7b1	Signs of PMD include nystagmus, hypotonia, tremors, titubation, @PHENOTYPICFEATURE$, spasticity, athetotic movements and @DISEASE$; the major findings in SPG2 are leg weakness and spasticity.	false
+02be48d1128c74379f03b9eddd0b93e8010df990	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, ataxia, @PHENOTYPICFEATURE$, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and spasticity.	false
+57525c58abf647731207699dc6e3fceb87d15ea4	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and @PHENOTYPICFEATURE$.	false
+af5d1da8364d67fc2da36c69e064640fc4411a8d	@DISEASE$ is characterized by neonatal hypotonia, moderate/severe @PHENOTYPICFEATURE$, impaired expressive language, and typical dysmorphic features.	has_symptom
+92cd9774fee3e1126ddef033f0fde1d0a255ffaf	Consequently, a clear picture of the nature and severity of @PHENOTYPICFEATURE$ in @DISEASE$ has yet to emerge in the literature.	has_symptom
+3380d03e33d18b0a7b473083843b9c5a2a3bea93	While her phenotypic features such as @PHENOTYPICFEATURE$ and motor delay show overlap with @DISEASE$ (PMD) caused by PLP1 mutations at Xq22.2, this gene is not included in our patient's microdeletion and is not dysregulated by a position effect.	has_symptom
+7a35d8496928889766ec2d5cad2000e856addef8	While her phenotypic features such as @PHENOTYPICFEATURE$ and motor delay show overlap with Pelizaeus-Merzbacher disease (@DISEASE$) caused by PLP1 mutations at Xq22.2, this gene is not included in our patient's microdeletion and is not dysregulated by a position effect.	has_symptom
+fc34e805b01b68d9b4082bd64813bce27a430f0e	The typical clinical manifestations of @DISEASE$ include psychomotor retardation, nystagmus, abnormal muscle tone, seizures, and @PHENOTYPICFEATURE$.	has_symptom
+a00f68ba724dfa9dc789967b3949719d8fecc2a8	This clinical report describes two patients presenting with @DISEASE$ (Camurati-Engelmann Disease) and @PHENOTYPICFEATURE$.	has_symptom
+12cd7c208a4fb949827536059b40f81172dd3383	This clinical report describes two patients presenting with progressive diaphyseal dysplasia (@DISEASE$) and @PHENOTYPICFEATURE$.	has_symptom
+9ab2ba6343ae2ade23c169fd0bb28c194247d264	@DISEASE$: two case reports describing metadiaphyseal dysplasia associated with @PHENOTYPICFEATURE$.	has_symptom
+c8c3e44f95f57967fb247d16d082b5ca0941f8af	These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including @DISEASE$ and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic @PHENOTYPICFEATURE$.	has_symptom
+a6d7b7fd382029df5f3454f09966d2986ee969ff	These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic @PHENOTYPICFEATURE$ including @DISEASE$ and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature.	has_symptom
+6532cccf7bed30fc62219285f8acb0117c7c8294	These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and @PHENOTYPICFEATURE$, while rare missense variants in ARID1B are associated with non-syndromic @DISEASE$.	false
+81dda52cdb7bb8d3035bcbc943e95c4a8de74e4f	These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic @DISEASE$ including Coffin-Siris syndrome and @PHENOTYPICFEATURE$, while rare missense variants in ARID1B are associated with non-syndromic short stature.	false
+afd1d72205de8493913f8ac8c37412e9513f7f03	These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and @PHENOTYPICFEATURE$, while rare missense variants in ARID1B are associated with non-@DISEASE$ short stature.	false
+aa010f20d76f5e037ab143a4f5dd394e2ad4d068	These results suggest that haploinsufficient mutations of ARID1B are associated with @DISEASE$ short stature including Coffin-Siris syndrome and @PHENOTYPICFEATURE$, while rare missense variants in ARID1B are associated with non-syndromic short stature.	false
+340fc455ebe02f7c6628e2525957d4429a0a05e0	These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including @DISEASE$ and @PHENOTYPICFEATURE$, while rare missense variants in ARID1B are associated with non-syndromic short stature.	false
+4d712ac8118b0521002034baef84946cb0d18ed1	Twenty-three TUS women were compared with 23 matched controls with constitutional @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+9af9c904f7cedbf510cca98ee1a3dace7c01011f	Among them, six had a constitutional @PHENOTYPICFEATURE$ (@DISEASE$) and 18 an idiopathic delayed puberty (IDP).	has_symptom
+f70fcb8abf8364ef2cd2de87363468f14030a5ed	Two groups of nine prepubertal children with constitutional @PHENOTYPICFEATURE$ (@DISEASE$) received GH (0.1 U/kg/day) for 3 months.	has_symptom
+d33c3d4fe94d1ee5d130141ca9d2d7c079f1709d	Twenty-three TUS women were studied and compared with 23 closely matched women with constitutional @PHENOTYPICFEATURE$ (@DISEASE$) and with 10 normal sisters of the TUS women.	has_symptom
+921a26198b636ed8df358ad14f3aae11b8bacd8b	It has been suggested that modifications of the IGF-I gene might be responsible for constitutionally @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+0a4d091fd1e54071be2d29de819b9eaba173f3ae	Of 279 children in whom the cause of @PHENOTYPICFEATURE$ was established, 140 (50%) had constitutional short stature/delayed puberty (@DISEASE$/DP).	has_symptom
+59fa568f28d2cb36ce451ffe61c1c6c65829da0d	Of 279 children in whom the cause of short stature was established, 140 (50%) had constitutional @PHENOTYPICFEATURE$/delayed puberty (@DISEASE$/DP).	has_symptom
+5b676ceeed4c76942419cbe9099470be9e434fd3	A retrospective study of 263 children referred for evaluation of @PHENOTYPICFEATURE$ revealed that 149 (56.7%) had constitutional short stature (@DISEASE$).	has_symptom
+79c0882d3f6db3df0080e2e25c93e39577b34495	A retrospective study of 263 children referred for evaluation of short stature revealed that 149 (56.7%) had constitutional @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+d44789b23f19dbb3993386f7123e085d304f2d38	years and those with constitutional @PHENOTYPICFEATURE$ (@DISEASE$) aged 5.2-14.2	has_symptom
+ea924d9d4ea8eb668b26d70a3efca8075b8261fa	They were evaluated after a mean time interval of 4 8/12 +/- 3/12 years and compared to 14 prepubertal children with constitutional @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+5af27512f684bc04715569d41b7f8557ee9ff7e7	Primary cardiac @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+02d0b4d5bc75fb95d4ae44addd61805b222d501d	We report a case of a primary gastric @DISEASE$ in a 8-year-old child, which first symptoms were @PHENOTYPICFEATURE$, dysphagia, melena and a constitutional syndrome.	has_symptom
+d727e8807fb79592f2a1afbdfd36bab0a80782c1	Twelve patients presented with recurrent @PHENOTYPICFEATURE$, and two patients with a jaw mass associated with endemic @DISEASE$.	has_symptom
+b402b0172d297d66176e1cdff5d61aff0704f77b	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with @PHENOTYPICFEATURE$, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-@DISEASE$, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	has_symptom
+49abf94c869d252f4506a14dd0c4e22d90246154	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with @PHENOTYPICFEATURE$, diarrhea and malabsorption; @DISEASE$, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	has_symptom
+dc6edc1ad52f0b1ad99ae0ecad97bc104cc7e9f4	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized @PHENOTYPICFEATURE$ in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-@DISEASE$, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+a88907e70f3a92da158ac1db91c146e9f2743eb0	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-@DISEASE$, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal @PHENOTYPICFEATURE$, pain and intestinal obstruction.	false
+5f39190f2327476f1ced201beb3f1b2289c82f50	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-@DISEASE$, 13 patients, usually occurs as localized @PHENOTYPICFEATURE$ in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+0377b306a88ec00fd3100de512f7cc2361738273	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; @DISEASE$, 13 patients, characterized by localized @PHENOTYPICFEATURE$ in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+f8767335b201335e309b002e81c1f9f50524207d	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; @DISEASE$, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal @PHENOTYPICFEATURE$, pain and intestinal obstruction.	false
+4e52857d2aea6e24a7e65ba0d0819c1a3e7158a5	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; @DISEASE$, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized @PHENOTYPICFEATURE$ in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+bb674bb44dcc4d3ad099baf307599a15d61853b6	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, @DISEASE$ and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal @PHENOTYPICFEATURE$ and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+10b482701f4bcedbce8af3d7bc95691283f0c02b	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, @DISEASE$ and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal @PHENOTYPICFEATURE$, pain and intestinal obstruction.	false
+2acf2f1a8ac84a0cf2927077b9fdc72c62aed811	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with @DISEASE$, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized @PHENOTYPICFEATURE$ in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+b871e7b2750afe2442c380f0cddf1be0fb5b8d33	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, @DISEASE$ and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized @PHENOTYPICFEATURE$ in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+327c06161343f9ccfa5b88a5685c048a8753eff4	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal @PHENOTYPICFEATURE$ and pain, and Non-@DISEASE$, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+0bab337be1decfeff4b35319aad30fe002bf7cb2	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with @DISEASE$, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal @PHENOTYPICFEATURE$, pain and intestinal obstruction.	false
+92fa25c03e4338fbeb5a4c12539b9b7e0b45fb0c	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; @DISEASE$, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal @PHENOTYPICFEATURE$ and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+1e809aa756ffef024613089040d36302976dc48d	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, @DISEASE$ and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized @PHENOTYPICFEATURE$ in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+fba9dd559897667fcdecc8364f3b25f69414702d	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with @DISEASE$, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized @PHENOTYPICFEATURE$ in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+ff7b2066fad903b519e68aa7421b4ad462c4a1b8	Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with @DISEASE$, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal @PHENOTYPICFEATURE$ and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.	false
+0f6b077c0b770f30202cd0f686232846b0a6535e	We present a case report of a patient with HIV infection who presented with @PHENOTYPICFEATURE$ and distension and was found to have an intraabdominal type of @DISEASE$.	has_symptom
+cc369180719466f36fbe4ab274b29fb70ab611c6	Bilateral ovarian @DISEASE$ was diagnosed in a 10-year-old girl who presented with @PHENOTYPICFEATURE$, constipation, and signs of ovarian torsion.	has_symptom
+64f04a10ea59d460fbb583613232bcf1f9440d76	Absence of @PHENOTYPICFEATURE$ is very unusual in @DISEASE$, which itself is an uncommon clinical entity.	has_symptom
+789ef4133340ecf9528023be4f7e73c007eb8dfa	@DISEASE$ (MPS I) is an autosomal recessive disease that is systemic, including progressive neurodegeneration, @PHENOTYPICFEATURE$ and death before the age of 10 years.	has_symptom
+a779eccef2646af08e27aa00ee1e249836a66886	@PHENOTYPICFEATURE$ was most severe in children with @DISEASE$ and correlated with chronicity of the disease.	has_symptom
+6ed61fcfb4c70f582bbc3a277daaadf4fa061f0e	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @PHENOTYPICFEATURE$ and stunted growth.	has_symptom
+30b7a82bcfac7404cf322a94c56d0cfced826233	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, @DISEASE$ and stunted growth.	false
+a13a15337dd1769d1596cd8ba4c6a533beca72e2	We report the case of a 10-years-old male patient diagnosed with @DISEASE$, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth.	false
+dd4a39bbe75dd0e6e9cd10606103de459829681c	We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, @PHENOTYPICFEATURE$, coarse facial features, macroglossia, @DISEASE$, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth.	false
+a15fb8389f57242523c269e7a72dbc938b046fe3	@DISEASE$ (drug rash with eosinophilia and systemic symptoms) is a hypersensitivity reaction with skin rashes, eosinophilia, @PHENOTYPICFEATURE$, lymph node enlargement and internal organ involvement.	has_symptom
+6b57d1060e6ae83cf1c2388e5557081c15ac4329	DRESS syndrome (@DISEASE$) is a hypersensitivity reaction with skin rashes, eosinophilia, @PHENOTYPICFEATURE$, lymph node enlargement and internal organ involvement.	has_symptom
+38bd404a8e575bff0324e4caf02c190fe9cc1a27	He had skin rash, hepatitis, eosinophilia and @PHENOTYPICFEATURE$; all these signs make the diagnosis of @DISEASE$.	has_symptom
+4c3fd6a61235b4abc53b7a03b7f812a5b20e3a82	@DISEASE$ (DRESS) is characterized by @PHENOTYPICFEATURE$, rash and internal organ involvement after exposure to certain drugs.	has_symptom
+e07cf0cda0605c6cc54af996042eb4c3bcc73ba2	DRESS syndrome (@DISEASE$) is a potentially life-threatening syndrome, which reflects a serious hypersensitivity reaction to drugs, presenting by generalized skin rash, @PHENOTYPICFEATURE$, eosinophilia, atypical lymphocytosis, and internal organ involvement.	has_symptom
+f85b4ac3e795ed4f3e868d9df51a923f9cdea395	@DISEASE$ (Drug Rash with Eosinophilia and Systemic Symptoms) is a potentially life-threatening syndrome, which reflects a serious hypersensitivity reaction to drugs, presenting by generalized skin rash, @PHENOTYPICFEATURE$, eosinophilia, atypical lymphocytosis, and internal organ involvement.	has_symptom
+45decd1dc5a6756f78ea4fd7981a8f268e9f2aab	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, lymphadenopathy, rash, hypereosinophilia and involvement of systemic organs.	has_symptom
+9d66eff75b06a932ce7e73533bd8781814d9ae56	We herein report a case of @DISEASE$ who presented with @PHENOTYPICFEATURE$ and rash, secondary to sulfasalazine ingestion.	has_symptom
+8cc869a630964db69a58956c53e4821ab68c2b00	The drug rash with eosinophilia and systemic symptoms syndrome also known as @DISEASE$ refers to an idiosyncratic drug reaction commonly characterized by rashes, @PHENOTYPICFEATURE$, lymphadenopathy, and internal organ involvement.	has_symptom
+c74a0d165e07041755031cfabdc25b1f3b06c1d9	The @DISEASE$ syndrome also known as DRESS syndrome refers to an idiosyncratic drug reaction commonly characterized by rashes, @PHENOTYPICFEATURE$, lymphadenopathy, and internal organ involvement.	has_symptom
+71844c02e93f51333af530a31c2392af03194192	The @DISEASE$ is characterised by skin rash, @PHENOTYPICFEATURE$, lymphadenopathy and haematological abnormalities, especially eosinophilia and/or atypical lymphocytosis.	has_symptom
+0eed5d298844cd0ffb03e81c958eb3fe3d8e5b94	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, rash, lymphadenopathy, eosinophilia and one or more major organ involvement.	has_symptom
+b3543165dd794e620774ca0150e44b80ba13f68b	@DISEASE$ or DRESS syndrome is a distinct severe drug-induced hypersensitivity reaction characterized by skin rash, @PHENOTYPICFEATURE$, eosinophilia and visceral involvement.	has_symptom
+384907aaeec99c18806f7fd3584d97fbd71e6497	Drug rash with eosinophilia and systemic symptoms or @DISEASE$ is a distinct severe drug-induced hypersensitivity reaction characterized by skin rash, @PHENOTYPICFEATURE$, eosinophilia and visceral involvement.	has_symptom
+c73382cfc3c12349b76326f2f339facd2f380c20	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	has_symptom
+cb3a0a0f27380d18470faadcf95e49b69da9d9b7	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+f374a57e83d4c4f0410f5383041dbb6df3ce0b39	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+75c8f261ac925861dcc5356a42866e58ce25882f	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+8475ab35b5cddeab287119f141d365934fad73df	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue @DISEASE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+377ec867332099369d6c65dfc8bc9b66dbd163b0	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+997f7f367a546cac4ab3e8ea7eea490298d317c3	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+b0f8942a470aa91fd8e4919c2d4f78e9d8eb41d2	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @DISEASE$ and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+5ba750de14c8e50dbc3f8d538dbc1aa9a3b8778e	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+96becf64bfc7d519343e7e7faa5d502efa79fa2f	@DISEASE$ (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and @PHENOTYPICFEATURE$.	has_symptom
+a6071ae95b16ddf393f4adcdb519f09874f2f133	Saethre-Chotzen syndrome (@DISEASE$) belongs to a group of rare congenital disorders connected with craniosynostosis and @PHENOTYPICFEATURE$.	has_symptom
+c4ff8e2d7bd2df954addafa8c01dfffa84b61e0f	ACS type III (or @DISEASE$) is characterized by microcephaly, skull asymmetry, mild @PHENOTYPICFEATURE$, and facial abnormalities.	has_symptom
+1d24a9e6d16fe98ba582ffe9595c11bfb71bb762	ACS type III (or @DISEASE$) is characterized by microcephaly, skull asymmetry, mild syndactyly, and @PHENOTYPICFEATURE$.	false
+41dbf7c4e316760f1b1a40d5498eb59ed7eceb90	ACS type III (or @DISEASE$) is characterized by @PHENOTYPICFEATURE$, skull asymmetry, mild syndactyly, and facial abnormalities.	false
+1aaa207ef6898779158252f378baa1c7541d9b94	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by @PHENOTYPICFEATURE$, skull asymmetry, mild syndactyly, and facial abnormalities.	false
+142f86fc37fc99d1f8af2c5770c94c14398f7cfd	ACS type III (or Saethre-Chotzen syndrome) is characterized by @PHENOTYPICFEATURE$, skull asymmetry, mild @DISEASE$, and facial abnormalities.	false
+1a418d1c203eb74159257bfd2e4e9eb53efeb9aa	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and @PHENOTYPICFEATURE$.	false
+9a31beb124249d034b79217c6a18ba734848e3b7	ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild @DISEASE$, and @PHENOTYPICFEATURE$.	false
+baaac34167fe8bf847976fc1be65c830c772a132	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin @PHENOTYPICFEATURE$ of hands and feet.	has_symptom
+4bdddc64e89234e7cdd24049f43465018e064afd	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, @PHENOTYPICFEATURE$, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet.	false
+529f1244a4207323413e5465390baf4e8e09d772	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, @PHENOTYPICFEATURE$, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet.	false
+27537dd1c9fb92eab8c05f9bf2db54759d341c29	The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, @PHENOTYPICFEATURE$, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin @DISEASE$ of hands and feet.	false
+aa84d8942d09c00604bb62ce3a3a3219ee314993	The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, @PHENOTYPICFEATURE$, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin @DISEASE$ of hands and feet.	false
+035b7516be24c86c9f71ec6f0a1528156f744b7d	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, @PHENOTYPICFEATURE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism.	has_symptom
+9a727afc8186ae27c6d3f2e621e53c6067a06667	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and @PHENOTYPICFEATURE$.	false
+895e7b8785dfa5ca544e60513b338997375b833d	The most common features of SCS described in the literature are synostosis of the coronal suture, @DISEASE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @PHENOTYPICFEATURE$, and ocular hypertelorism.	false
+06dbe228aac796a930218f6b924f3db6ecf91814	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @PHENOTYPICFEATURE$, and ocular hypertelorism.	false
+3aa0fb68ca6b979dc6d29ee90bae89014e8059c1	The most common features of SCS described in the literature are synostosis of the coronal suture, @DISEASE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and @PHENOTYPICFEATURE$.	false
+64bf3f95a1cee746446c5e389bf012f185935cca	Saethre-Chotzen syndrome (@DISEASE$) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, @PHENOTYPICFEATURE$, skeletal deformity, and congenital heart malformations.	has_symptom
+97607bed8771004b8bcd06592fcb72290441f234	@DISEASE$ (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, @PHENOTYPICFEATURE$, skeletal deformity, and congenital heart malformations.	has_symptom
+f5ee7a14480f00ec3701007b1fa61c879c1161d5	Saethre-Chotzen syndrome (@DISEASE$) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and congenital heart malformations.	false
+edecfda99bdce95d29cde6afc6197a9307fe7c4d	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (@DISEASE$) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and congenital heart malformations.	false
+f7da0274a1ed26f1e17917f6afb684cdfb98de6e	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, @DISEASE$, skeletal deformity, and congenital heart malformations.	false
+61bcebd0e30e095ac2fecb708b3fa34bb73b5e62	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and @DISEASE$.	false
+14d5bebac3afe6aed90d1e6a571f1200f986b2e9	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) @DISEASE$, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and congenital heart malformations.	false
+0e7147aced7c26280625078ea131adb1ab07346d	@DISEASE$ (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and congenital heart malformations.	false
+a514ce359dfa6218c6e8fd47cf33bc8f5ef696f9	@DISEASE$ (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and skeletal anomalies including @PHENOTYPICFEATURE$, carpal and tarsal fusions, and cervical spine abnormalities.	has_symptom
+55f382d4b856d06eca06ca4e693bf2cb8d0bafbd	Saethre-Chotzen syndrome (@DISEASE$) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and skeletal anomalies including @PHENOTYPICFEATURE$, carpal and tarsal fusions, and cervical spine abnormalities.	has_symptom
+9ce7a39473e3acc01f7d11a36a5cfba93e471ea3	Saethre-Chotzen syndrome (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and @PHENOTYPICFEATURE$ including @DISEASE$, carpal and tarsal fusions, and cervical spine abnormalities.	false
+20e25eacc95f29d9bd1ad20a59bbfb6d5c519c11	Saethre-Chotzen syndrome (@DISEASE$) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and @PHENOTYPICFEATURE$ including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities.	false
+6f560a2684d30ca264fced52b23859ba0e909bd1	Saethre-Chotzen syndrome (SCS) and Muenke-type mutation (MTM) are complex syndromes with @DISEASE$ and @PHENOTYPICFEATURE$ including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities.	false
+053dd7ed8f517f6ce8f4f67a51ddde0ff247cd69	@DISEASE$ (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and @PHENOTYPICFEATURE$ including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities.	false
+a4a01d6cce7f43a35e8dd27fb9b9aec71b8d506a	@DISEASE$ (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+38937886a38d2a3cfed3905fe1ae8a0913a396b7	Saethre-Chotzen syndrome (@DISEASE$) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+893e2e3c3ccb03641b6a49a16462ef17fbc03133	@DISEASE$ (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	has_symptom
+b062ad0318d47a614507d186fb3641a8e79fbca7	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	has_symptom
+4c3874734203e7d2cab6304036667473fc858403	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+95cfc04d255546e7f9146eda02349950411e1355	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @DISEASE$ and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+a9ece551528267bbba46c81635cbec8ef5446404	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+fb607bfdb63a285e3f7b1f9acc66b13cd1a2ab9a	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+c427aadf82645a3ccc1cd802ffa1dc21ea24ffb8	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+f259a6165d84871e327ed968b399f677532a30c4	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+8c8a40db2b4ad533ae2339537bfbba2060ec74c6	Saethre-Chotzen syndrome (acrocephalo-@DISEASE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+4e3c55174eedd855f2fed62e0f583022d805d442	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue @DISEASE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+ccc5dd7954941185f03ca7811c1d5809e4a28a2e	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+24bafb8fb4e78881c7f21c6379190d96cedff0bc	Saethre-Chotzen syndrome (acrocephalo-@DISEASE$ type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+b5dcfa26859f734fbfedc2b299968ef0ac58f0c6	Main features of the autosomal dominant form of GH deficiency (@DISEASE$) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to @PHENOTYPICFEATURE$.	has_symptom
+c6c99d409f4827da84fe38a8ceb9caa0d543a1c4	Despite the differences in the main characteristics between the autosomal dominant form of GH deficiency (@DISEASE$) and the bioinactive GH syndrome, a common feature of both is their impact on linear growth leading to @PHENOTYPICFEATURE$ in all affected patients.	has_symptom
+9baf9346d4a714d7e8d4945b7c77cfdd7bbbd2c3	@DISEASE$ (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and @PHENOTYPICFEATURE$.	has_symptom
+5cba85e41690ff09c6382ae403fe55619f2dec45	Isolated growth hormone deficiency type II (@DISEASE$) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and @PHENOTYPICFEATURE$.	has_symptom
+2d57a5e2beef5086cfabf4113cf2023e54b02e46	The autosomal dominant form of GH deficiency (@DISEASE$) is characterized by markedly reduced GH secretion combined with low concentrations of IGF-1 leading to @PHENOTYPICFEATURE$.	has_symptom
+adea52a8e11b1b372ca517d274e4d0379b02b764	@DISEASE$ (IGHD II) is characterized by @PHENOTYPICFEATURE$ due to dominant-negative mutations of the human growth hormone gene (GH1).	has_symptom
+fa0c22ced208e7986a15064afb27ad3320b624aa	Isolated growth hormone deficiency type II (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ due to dominant-negative mutations of the human growth hormone gene (GH1).	has_symptom
+b3624846f4648ec1ddff7664f1bb486459d965a7	This is the first report of a patient suffering from @PHENOTYPICFEATURE$ caused by a GH-1 gene alteration affecting not only GH secretion (@DISEASE$) but also GH binding and signaling, highlighting the necessity of functional analysis of any GH variant, even in the alleged situation of IGHD II.	has_symptom
+f92c985bd1b186ee7c43ff19783958a965458ae7	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	has_symptom
+6ed64e3eaa6c828ec37283380d60f9b6600db1e9	Juvenile neuronal ceroid lipofuscinosis or @DISEASE$ (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	false
+6a53844615a1e97b404253002530080abd396c1a	Juvenile neuronal ceroid lipofuscinosis or Batten disease (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, cognitive decline and early death.	false
+106bb159f3d00f21a21808c1534c6a1f988039ae	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	false
+9d2713c2e992f13753e23bf4e7dec7fc902faf6d	@DISEASE$-Batten disease is a rare, autosomal recessive disorder involving @PHENOTYPICFEATURE$, visual, motor and cognitive decline, and premature death.	has_symptom
+0eb577f82aa2ebbd3594e25fe5d579dfb1bb445e	The model was shown to faithfully recapitulate the pathological signs of @DISEASE$ disease, including reduced survival, neuronal loss, retinopathy, axonopathy, loss of motor function, lysosomal storage of subunit c of mitochondrial ATP synthase, and @PHENOTYPICFEATURE$, albeit with an earlier onset and faster progression than the human disease.	has_symptom
+5a5e35d829f48247dff0c4da4e85a97728e6045e	To evaluate @PHENOTYPICFEATURE$ phenomenology, treatment, and course in individuals with @DISEASE$ (JNCL).	has_symptom
+e2cc5a5d75a9625caec90239539a2ef2663523a5	Cln3(?ex7/8) mice harbor the most common genetic defect causing @DISEASE$ (JNCL), an autosomal recessive disease involving @PHENOTYPICFEATURE$, visual, motor and cognitive decline, and premature death.	has_symptom
+7318dc9aafd83394779209bb424b703f9f01e20d	Common causes of tall stature include familial @PHENOTYPICFEATURE$, obesity, Klinefelter syndrome, @DISEASE$, and precocious puberty.	has_symptom
+51119849a0b7e82f5f7ed3929bcbd147ea593505	Common causes of tall stature include familial tall stature, @PHENOTYPICFEATURE$, @DISEASE$, Marfan syndrome, and precocious puberty.	false
+23262b8f1629b7b10500698452fdf66e840cf747	Common causes of tall stature include familial @DISEASE$, @PHENOTYPICFEATURE$, Klinefelter syndrome, Marfan syndrome, and precocious puberty.	false
+6c454fe3e8fb01274aa2a06f1f53b09a0a1dcf49	Common causes of tall stature include familial tall stature, @PHENOTYPICFEATURE$, Klinefelter syndrome, @DISEASE$, and precocious puberty.	false
+5a79ab130b391f6fd7507517991906bd376a1832	We hypothesized that monocyte transcriptomes of patients with cardiorenal syndrome (@DISEASE$) reflect the pathophysiology of the CRS and respond to short-term EPO treatment at a recommended dose for treatment of renal @PHENOTYPICFEATURE$.	has_symptom
+a79d3104f53b7fc83460349f7725b405b45036ba	We hypothesized that monocyte transcriptomes of patients with cardiorenal syndrome (CRS) reflect the pathophysiology of the @DISEASE$ and respond to short-term EPO treatment at a recommended dose for treatment of renal @PHENOTYPICFEATURE$.	has_symptom
+d26535844613f4c2ea70c6913b48edc0da61d988	@PHENOTYPICFEATURE$ and iron deficiency are importantly associated with @DISEASE$ and might amplify decline of cardiac and renal function.	has_symptom
+51a93b5153b4d6e1547803c3a25a722c1338c653	In stable, treated @DISEASE$ patients with mild @PHENOTYPICFEATURE$, monocyte transcriptomes were modestly altered, and indicated imprints of inflammation and oxidative stress.	has_symptom
+e9181cfc277417a8edba60da9258af5292e6ead3	AAV patients with @DISEASE$ may be accompanied by systemic and pulmonary symptoms (cough, asthma, fever, @PHENOTYPICFEATURE$, etc) or some positive laboratory tests (elevated C-reactive protein, proteinuria and/or hematuria, etc.).	has_symptom
+051bd6973103b7a7d5ab0d0c93264da09169e19e	AAV patients with CRS may be accompanied by systemic and pulmonary symptoms (cough, @DISEASE$, @PHENOTYPICFEATURE$, anemia, etc) or some positive laboratory tests (elevated C-reactive protein, proteinuria and/or hematuria, etc.).	false
+b9591c33e6edbf50fb36ee786d9762f98355bca0	AAV patients with CRS may be accompanied by systemic and pulmonary symptoms (cough, asthma, @PHENOTYPICFEATURE$, anemia, etc) or some positive laboratory tests (elevated C-reactive protein, @DISEASE$ and/or hematuria, etc.).	false
+7df84985b5946ba8f4739b3fa4ed55794a7f6053	AAV patients with @DISEASE$ may be accompanied by systemic and pulmonary symptoms (cough, asthma, @PHENOTYPICFEATURE$, anemia, etc) or some positive laboratory tests (elevated C-reactive protein, proteinuria and/or hematuria, etc.).	false
+fcffb401618868d0b67e4645d8132dba5eeddcbf	AAV patients with CRS may be accompanied by systemic and pulmonary symptoms (cough, asthma, @PHENOTYPICFEATURE$, @DISEASE$, etc) or some positive laboratory tests (elevated C-reactive protein, proteinuria and/or hematuria, etc.).	false
+c347e57705922778eff3c049b31efa297a43c54c	@DISEASE$ is an autosomal recessive disorder characterized clinically by small size, @PHENOTYPICFEATURE$ facial erythema, and immunodeficiency, and cytogenetically by increased chromosome breakage and sister chromatid exchange.	has_symptom
+056199064912a935f3c638ee8c73876d0852f4d8	The triad of small body size, immunodeficiency, and @PHENOTYPICFEATURE$ facial erythema characterizes the phenotype @DISEASE$ (BS), a rare autosomal recessive disorder with a striking predisposition to multiple types of cancers that arise earlier than expected in the general population.	has_symptom
+bb407c44ace5c3dd3af8fdc35d0353e81a7fdc42	@DISEASE$ does not always present with @PHENOTYPICFEATURE$ facial erythema.	has_symptom
+5270b08573dd2fda1ef414bdc787e78d5cf69184	@DISEASE$ is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and @PHENOTYPICFEATURE$ facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers.	has_symptom
+b3a4093c8199bae3c63e2191decb192e76c166b9	@DISEASE$ is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a @PHENOTYPICFEATURE$ facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	has_symptom
+0613dc3fde0dfde62fbc5916168a9d3097405c74	Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive @DISEASE$ erythema, immunodeficiency, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	false
+812807eff722c49cd54e9d7eb3c2f4f4e539a52f	Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a @DISEASE$ facial erythema, immunodeficiency, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	false
+b2aa582765cdca1bc432b10db81af2f7112f0612	@DISEASE$ is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	false
+76178f8b446409667d7cd4baa3b519d410404622	Bloom syndrome is a rare chromosomal breakage @DISEASE$ characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	false
+53c20b3db841053ea416c94f02bbbe8a18cc6513	Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of @DISEASE$.	false
+22701b5429e0694d80533a7f67255a2e73a1e278	Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, @DISEASE$, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	false
+5ba750de14c8e50dbc3f8d538dbc1aa9a3b8778e	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	has_symptom
+391c7cd6ef7fe68f98120099a90206095d9d5db2	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by @DISEASE$, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+cb3a0a0f27380d18470faadcf95e49b69da9d9b7	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+3282dcc38383f1387e9582d71fba047f01f40398	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and @DISEASE$ dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+377ec867332099369d6c65dfc8bc9b66dbd163b0	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+997f7f367a546cac4ab3e8ea7eea490298d317c3	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	false
+c73382cfc3c12349b76326f2f339facd2f380c20	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+9aa79dc6b1966069ec2e01ae3ec8a0c261978561	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+3ca167b3b11da9d9e7836038e9aab8b2ca733751	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by @DISEASE$, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+c7d162f82ec57b2c9727ea51defcee634dca540e	The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, @PHENOTYPICFEATURE$, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of @DISEASE$.	has_symptom
+8703d61f89f21f0a8c5dabd39eb75ad962647ba4	The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, @PHENOTYPICFEATURE$, @DISEASE$, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of Saethre-Chotzen syndrome.	false
+b8133607728991a37d91cbfa248a08374b0714f9	The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, @DISEASE$, significant learning difficulties, recurrent scalp infections with marked @PHENOTYPICFEATURE$, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of Saethre-Chotzen syndrome.	false
+fc13d53013a3eabcabc6f90dd21d4da475dc3b20	The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked @PHENOTYPICFEATURE$, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of @DISEASE$.	false
+441215cec7a8bc03840a421ff1d7a43acb1cecf5	The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, @PHENOTYPICFEATURE$, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of @DISEASE$.	false
+100b928f9f1acc5fa24d4f84716b139fede16e83	The Saethre-Chotzen Syndrome (@DISEASE$) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, @PHENOTYPICFEATURE$ and abnormal dermatoglyphic patterns.	has_symptom
+a1352326e2552dd91bdcef85ce8a030a59cce81c	The Saethre-Chotzen Syndrome (@DISEASE$) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, @PHENOTYPICFEATURE$ of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns.	false
+78db98cf2926e5767d7139f4600055501ca049c1	The Saethre-Chotzen Syndrome (SCS) is characterized by @DISEASE$, low-set frontal hairline, parrot-beaked nose with deviated septum, @PHENOTYPICFEATURE$ of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns.	false
+59ddfb18633f1447de21b00646ae97ed4c8a3ad2	The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, @PHENOTYPICFEATURE$ of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, @DISEASE$ and abnormal dermatoglyphic patterns.	false
+4c3874734203e7d2cab6304036667473fc858403	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	has_symptom
+5c3d2f7f6307cacb051675dbe7cf6158bc79ffcf	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+893e2e3c3ccb03641b6a49a16462ef17fbc03133	@DISEASE$ (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+ee49a6149101c006a7262868a78ca023abdf4059	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @DISEASE$, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+4d2e3786365fb991aac9cf07c8777e2f94222342	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+c427aadf82645a3ccc1cd802ffa1dc21ea24ffb8	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+ccc5dd7954941185f03ca7811c1d5809e4a28a2e	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+b062ad0318d47a614507d186fb3641a8e79fbca7	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+dfc160afe71b857cbdba054a935924a5657685ab	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @DISEASE$, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+190bf4b172400549581b0917f3e2e760c616736f	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with @DISEASE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+95915f09cd117a378a8db9c85a97a864508cc33e	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+fb607bfdb63a285e3f7b1f9acc66b13cd1a2ab9a	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	false
+79fdf53b2f737ac23ffcda3be73b12efacab1e23	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+3736a432287300b4ca5f7dcbfb8d3268b5b14f11	This study explored factors associated with speech recognition outcomes in postmeningitic @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+52ab299a08679a3dc50c3c15cff6664729113344	@DISEASE$ (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and @PHENOTYPICFEATURE$ of planta and palms, dental anomalies and caries, premature grey hair.	has_symptom
+0b6b09246d78d475355414155d2413e1a0c793c0	@DISEASE$ (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and hyperhidrosis of planta and palms, @PHENOTYPICFEATURE$ and caries, premature grey hair.	false
+e46f78d7cd327477fc461152dee62afa699bb2ff	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, @PHENOTYPICFEATURE$ and @DISEASE$ of planta and palms, dental anomalies and caries, premature grey hair.	false
+f1fde211f75a2f9a8be3abacec5f52c50f731938	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of @DISEASE$, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, @PHENOTYPICFEATURE$ and hyperhidrosis of planta and palms, dental anomalies and caries, premature grey hair.	false
+7577b3ab76df141e312760a9d01e6af14e68f80d	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of @DISEASE$, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and hyperhidrosis of planta and palms, @PHENOTYPICFEATURE$ and caries, premature grey hair.	false
+2a38e8b204c7432cc3a929eb8a5d00336fa62ec3	@DISEASE$ (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, @PHENOTYPICFEATURE$ and hyperhidrosis of planta and palms, dental anomalies and caries, premature grey hair.	false
+80345b224e366a8f00b4b8134681fd369952c694	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and @DISEASE$ of planta and palms, @PHENOTYPICFEATURE$ and caries, premature grey hair.	false
+680c9f4a2c23ee9d496d3e5fb12234ea06251465	Clinical assessment for features of @DISEASE$ (eg, serum calcium levels, personal and family history of hypercalcemia, pituitary or @PHENOTYPICFEATURE$) could identify patients with higher risk for a tumoral source of hypergastrinemia where imaging studies can help support the diagnosis without the potential side effects of abrupt discontinuation of proton pump inhibitor therapy.	has_symptom
+2b874060da926cc0f7e09a8f438aa50a2412101c	@PHENOTYPICFEATURE$ and associated conditions like Hereditary @DISEASE$ (HED) and microdontia markedly influence on physical, functional and psychosocial maturation of the affected individuals.	has_symptom
+fa95ea21d5f7841451fbb6e3df34ed46eadbeac8	We report the case of a boy with @DISEASE$ who exhibited a severe @PHENOTYPICFEATURE$ and who was treated with implants inserted into the anterior mandible at the age of 8 years.	has_symptom
+fbc375a74a2022861a60325f8e16c2ecb4a80592	[@DISEASE$ with hypohidrosis, hypotrichosis and @PHENOTYPICFEATURE$].	has_symptom
+a13efff395e62ed4d22fbcf78f26e464f99ffd92	[Ectodermal dysplasia with @DISEASE$, @PHENOTYPICFEATURE$ and hypodontia].	false
+ec1235fbdad2d55b218ebd66bf59e45e1353d280	[Ectodermal dysplasia with hypohidrosis, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+77892652c4b994033cf7779bd837682efb5e8cc4	[@DISEASE$ with hypohidrosis, @PHENOTYPICFEATURE$ and hypodontia].	false
+bf3e63b83049f696d390742097bf741a2d9b73d6	Hypohidrotic ectodermal dysplasia is a common variation of @DISEASE$, characterized by hypohidrosis (or anhidrosis), hypotrichosis, @PHENOTYPICFEATURE$, and other distinct facial features.	has_symptom
+46033704bab9f067780a82d159249c50b5f391c9	@DISEASE$ is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), @PHENOTYPICFEATURE$, hypodontia, and other distinct facial features.	false
+9a48617d8e35508dea2a5879aa8fac0c56d140a9	Hypohidrotic ectodermal dysplasia is a common variation of @DISEASE$, characterized by hypohidrosis (or anhidrosis), @PHENOTYPICFEATURE$, hypodontia, and other distinct facial features.	false
+5be5da83dee4f21fdc31f06a154168a6f7933537	Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), @PHENOTYPICFEATURE$, @DISEASE$, and other distinct facial features.	false
+c833ca5dc7f5272add88ccc4bdd5818f3b076439	Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by @DISEASE$ (or anhidrosis), @PHENOTYPICFEATURE$, hypodontia, and other distinct facial features.	false
+b502b234214b154e54ac1a0f02d33c6d38b40803	@PHENOTYPICFEATURE$ and microdontia associated with hereditary @DISEASE$.	has_symptom
+4fb79d7425fb503f8c336700adac6666d0f2937c	@PHENOTYPICFEATURE$ and malformation are almost regular dental characteristics in patients suffering from @DISEASE$.	has_symptom
+03f1d04fb3f074ee99553e5ec303cfb122f0b364	translocation and features of @DISEASE$ with @PHENOTYPICFEATURE$ and developmental delay.	has_symptom
+adcbdae5cff88a2f481ee2685e940347a41a91fd	In addition to its other symptoms, @DISEASE$ causes anodontia and @PHENOTYPICFEATURE$ intraorally.	has_symptom
+5412066f3959dec83069040ad397bfd9d9997fb3	[Hereditary @DISEASE$ with anhidrosis, hypotrichosis and @PHENOTYPICFEATURE$].	has_symptom
+8192091639582f6a5a8e88dab118f8213358cd90	[Hereditary ectodermal dysplasia with anhidrosis, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+fdfa51be247381c34e7a630ff05f7626925de8e6	[Hereditary @DISEASE$ with anhidrosis, @PHENOTYPICFEATURE$ and hypodontia].	false
+0b96a1161a66724b76f3e2aca2152a2cdf2b8926	Absence of sweat glands, hypotrichosis, @PHENOTYPICFEATURE$, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic @DISEASE$.	has_symptom
+9d3dc77e3d11986d502f63e6bee8da0d52d31e8a	Absence of sweat glands, @PHENOTYPICFEATURE$, hypodontia, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic @DISEASE$.	false
+f207d1b1f05d9dce5452edf5edf44137a8396965	Absence of sweat glands, @PHENOTYPICFEATURE$, @DISEASE$, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic ectodermal dysplasia.	false
+fe9a0b41594b8e778b99002040c0ae3924e4685e	A 22-year-old nulligravid white female with @DISEASE$ was noted to have a 4-month history of premenstrual nausea, @PHENOTYPICFEATURE$, and abdominal pain.	has_symptom
+3e3d029e57f3e62c7aeb11f26ddf139e243ce101	A 22-year-old nulligravid white female with Angelman syndrome was noted to have a 4-month history of premenstrual nausea, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8c1160e31f16d96cdbba245ca2797c525a4e3e87	A 22-year-old nulligravid white female with @DISEASE$ was noted to have a 4-month history of premenstrual nausea, vomiting, and @PHENOTYPICFEATURE$.	false
+ae10d7c0ea9656df4ceeb3defff821e774a160cd	However, the same phenomenon, both clinically and electrophysiologically, was observed in three diseases with a second but not first motor neuron affection: autosomal dominant spinal muscular atrophy, @DISEASE$, and juvenile @PHENOTYPICFEATURE$.	has_symptom
+07c4c39fe3fd43adf7f407d5c537de9e41e6941c	In late adult @DISEASE$ cases with the age at onset after forty, the initial symptom is progressive cerebellar ataxia with hypotonia, followed by @PHENOTYPICFEATURE$ and sensory disturbance (type 3).	has_symptom
+6669dd2d7ac1849794ae59c723219d2be4e8097e	We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, @PHENOTYPICFEATURE$, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of @DISEASE$.	has_symptom
+30f8fe1163a992a6e717d59bc67d417158cca21a	We report a 6 month old boy with @DISEASE$, @PHENOTYPICFEATURE$, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome.	false
+c27b04b932d5814703e4fcaa57bce0f5c8ab8690	We report a 6 month old boy with congenital hydronephrosis, @PHENOTYPICFEATURE$, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of @DISEASE$.	false
+0666c00cd230b2fff09cd95db81f88b177e35f76	We report a 6 month old boy with congenital hydronephrosis, @PHENOTYPICFEATURE$, severe hypotonia, @DISEASE$, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome.	false
+6a1dcbdfb13e5eb46dd984989f840b62f561d257	@DISEASE$ is characterized by severe intellectual disability, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, @PHENOTYPICFEATURE$, and characteristic facial gestalt.	has_symptom
+0951f22944771d18c24dd9c456cb21f17958c8e0	Okamoto syndrome is characterized by severe @PHENOTYPICFEATURE$, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, @DISEASE$, and characteristic facial gestalt.	false
+5f7e066d7f0c236d964d9ae6d83e16652dc76f9d	@DISEASE$ is characterized by severe @PHENOTYPICFEATURE$, generalized hypotonia, stenosis of the ureteropelvic junction with hydronephrosis, cardiac anomalies, and characteristic facial gestalt.	false
+671abb1aa48eda55ddcf108bebc1e75900143a34	@DISEASE$ associated with intra-partum @PHENOTYPICFEATURE$ and neonatal death.	has_symptom
+c91cdab9e50c3b27336b1d1746cac7704848a783	@DISEASE$ associated with lethal @PHENOTYPICFEATURE$ and normal intrauterine growth in three siblings.	has_symptom
+00b537f0ec7b4ccb6208fe6da75685154f576395	Forty six patients received a topical application of a 0.3% norfloxacin (Zoroxin; @DISEASE$, Austria) solution into the lower fornix at different time intervals and frequencies before undergoing planned extracapsular @PHENOTYPICFEATURE$ extraction.	has_symptom
+5c992e0b4341cacb9872a5d42013bd2fd63655f6	@DISEASE$: can the diagnosis be made prior to @PHENOTYPICFEATURE$ formation?	has_symptom
+dedcea3729da3567ca867847c1c6bd3f3bd4dc6c	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	has_symptom
+30300f3f369ee7a5b18a6609661b417910306043	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @DISEASE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+1a075f9342d951b8f9c783a70c9dcd7b03749876	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+8d97edd30e4c6a16aa4fcd5322ccbe0fdc6c8355	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @DISEASE$, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+d737f1dc348991df8f88ee16f8a6196c4dfaaf5a	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @DISEASE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+284532b780daf934e94eec32a588cc21ce6868dd	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @DISEASE$, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+23593b4b27868e727f5241b9ff3942d47205f6a0	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+4cda247415e4f433ff427020448dc8baffaad7c3	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+362cc9ca3a14547e76d79afe8cc8481462ca19ac	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+362024cd43995d25670b060c47b30f3ea911d7a9	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+4ae1902adafb118f4a376c4ab4a58b96a710cab1	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @DISEASE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+5d0d200e3807d00bd170941c5d30335eed782f4c	This metabolic disorder is characterized by severe @PHENOTYPICFEATURE$, psychomotor regression, and progressive @DISEASE$.	has_symptom
+957f8ff74b6a1cbb407d16117552b10d52c70612	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @PHENOTYPICFEATURE$.	has_symptom
+fb31ffe98764c1540dc34c63139fc1a915efe73e	Myhre syndrome is a rare disorder characterized by low birthweight, short stature, @PHENOTYPICFEATURE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @DISEASE$.	false
+7f35bb7d458c7ded5b6784b3aee92cc910e2c48f	Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, @PHENOTYPICFEATURE$ (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @DISEASE$.	false
+fb20d45ff5f1558f7c615ff56261ccbdd544632a	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, @PHENOTYPICFEATURE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+d14230c62a4c7b179d97c7e204165605e306f9fa	Myhre syndrome is a rare disorder characterized by low birthweight, @PHENOTYPICFEATURE$, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @DISEASE$.	false
+c3feb52d95e0e6dc370063d4951c7cd347007950	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, mental retardation, @PHENOTYPICFEATURE$ (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+049f5da06583ef39a26aab0ce17fe57341ebee0c	@DISEASE$ is a rare disorder characterized by low birthweight, @PHENOTYPICFEATURE$, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+80d60b2594074f1769286a225e5b3d4d67e57820	@DISEASE$ is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, @PHENOTYPICFEATURE$, cognitive deficits, joint stiffness, and skeletal anomalies.	has_symptom
+23d7545900afc05ed3dc97efdce1423dbd9cc704	@DISEASE$ is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and @PHENOTYPICFEATURE$.	false
+fbd8090b5640e540454e850105e7ed2241e6315e	@DISEASE$ is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, @PHENOTYPICFEATURE$, deafness, cognitive deficits, joint stiffness, and skeletal anomalies.	false
+447e956b3cea2f377798d898635065cda21e7c5c	@DISEASE$ is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, @PHENOTYPICFEATURE$, joint stiffness, and skeletal anomalies.	false
+2064fd7412839bd40684f11166f259a14f231b37	Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, @PHENOTYPICFEATURE$, @DISEASE$, cognitive deficits, joint stiffness, and skeletal anomalies.	false
+0a8566f9e3c4811e3f69f1dc46a50a27664e08d0	Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, joint stiffness, and skeletal anomalies.	false
+f5b587d9879b7deb50b34303e44f4082c5560efa	Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, @DISEASE$, cognitive deficits, joint stiffness, and @PHENOTYPICFEATURE$.	false
+41e9cd2bf1ef4c3115c795fb23bda501807dfede	@DISEASE$ (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable cognitive deficits, skeletal anomalies, stiffness of joints, distinctive facial gestalt and @PHENOTYPICFEATURE$.	has_symptom
+c8e4b617f50e1041b20e54d0a90f0647a97b0077	Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable @PHENOTYPICFEATURE$, skeletal anomalies, stiffness of joints, distinctive facial gestalt and @DISEASE$.	false
+5f4b4d315a348e8f71a8df644e085d7e0e708c15	@DISEASE$ (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable cognitive deficits, @PHENOTYPICFEATURE$, stiffness of joints, distinctive facial gestalt and deafness.	false
+1c0ed84f1e4e06047b7db9d18d9bd9b5e59dd539	Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable cognitive deficits, @PHENOTYPICFEATURE$, stiffness of joints, distinctive facial gestalt and @DISEASE$.	false
+17c05aae432fcd1ca2d1598ef64d13124ca35ed6	@DISEASE$ (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable @PHENOTYPICFEATURE$, skeletal anomalies, stiffness of joints, distinctive facial gestalt and deafness.	false
+1578b945152a58a2dd4dd0b6c9f8334cfa668a78	@DISEASE$ is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, @PHENOTYPICFEATURE$ and cardiac defects.	has_symptom
+ac3bdc1a939adb175d6ea3fc8448180f6a48d8cc	@DISEASE$ is a rare autosomal dominant genetic condition characterized by @PHENOTYPICFEATURE$, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+5852fc63086a06dc8133bcd5af36c0b42a9191e8	Myhre syndrome is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, @PHENOTYPICFEATURE$, decreased joint motility, developmental delay, @DISEASE$ and cardiac defects.	false
+1208867f5e51b594c0caf878b241e72df189d547	Myhre syndrome is a rare autosomal dominant genetic condition characterized by @PHENOTYPICFEATURE$, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, @DISEASE$ and cardiac defects.	false
+a80266f53d11202ea7950968574ad7ecd9870fc8	@DISEASE$ is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, @PHENOTYPICFEATURE$, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+993e81e8ad7b4e408791981ab6014413e431536d	Myhre syndrome is a rare autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+1beba958d3cdc76a0fa5cd82d00cd4caf9066bf2	Myhre syndrome is a rare autosomal dominant @DISEASE$ characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, @PHENOTYPICFEATURE$, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+86702cdfb66992d1c3faa3d5274481390260cf36	@DISEASE$ is a rare autosomal dominant multi-organ disorder characterized by growth retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism, @PHENOTYPICFEATURE$, cardiovascular disease, and abnormal sexual development.	has_symptom
+5f7ea9bc534fd45550b1fb13d3e09fb22d942cc7	@DISEASE$ is a rare autosomal dominant multi-organ disorder characterized by growth retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, @PHENOTYPICFEATURE$, deafness, cardiovascular disease, and abnormal sexual development.	false
+1738c852092d888b4564d5daeb44e6620119ef93	Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by @PHENOTYPICFEATURE$, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism, deafness, @DISEASE$, and abnormal sexual development.	false
+5a7eedd5d95e52d0dc3d40d186363d958c415ddb	@DISEASE$ is a rare autosomal dominant multi-organ disorder characterized by growth retardation, @PHENOTYPICFEATURE$, muscular hypertrophy, joint stiffness, facial dysmorphism, deafness, cardiovascular disease, and abnormal sexual development.	false
+c414af17b938ebcd7ea265b107dfa66cf222a8b3	@DISEASE$ is a rare autosomal dominant multi-organ disorder characterized by @PHENOTYPICFEATURE$, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism, deafness, cardiovascular disease, and abnormal sexual development.	false
+ddea7982f2648bdc47ad331f8fb1bfe52b0a0d31	Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, @PHENOTYPICFEATURE$, @DISEASE$, cardiovascular disease, and abnormal sexual development.	false
+375971de8371ef8b3ebc98bb5a345b1998bfa733	Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth retardation, @PHENOTYPICFEATURE$, muscular hypertrophy, joint stiffness, facial dysmorphism, deafness, @DISEASE$, and abnormal sexual development.	false
+85ea12d20702bf25ceea923be9d2c99d39a3f843	Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by @PHENOTYPICFEATURE$, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism, @DISEASE$, cardiovascular disease, and abnormal sexual development.	false
+17f36c41d95b15f713cd0abe28c2e4e0f4ac8e4a	Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth retardation, @PHENOTYPICFEATURE$, muscular hypertrophy, joint stiffness, facial dysmorphism, @DISEASE$, cardiovascular disease, and abnormal sexual development.	false
+3e11d880d41d52f1ba9243d7e421dc3fd2570ce4	Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, @PHENOTYPICFEATURE$, deafness, @DISEASE$, and abnormal sexual development.	false
+1a4e3dacf28703da13763a47347cb686d4736045	@DISEASE$ (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and @PHENOTYPICFEATURE$.	has_symptom
+65ec90bfd0dcc2a6423d232e8d3bc10a02190a1e	@DISEASE$ (MS, MIM 139210) is a connective tissue disorder that presents with @PHENOTYPICFEATURE$, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness.	false
+5274c539be46dd9ddfa11dbf2145528e1799b6ce	Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with @PHENOTYPICFEATURE$, short hands and feet, @DISEASE$ dysmorphic features, muscle hypertrophy, thickened skin, and deafness.	false
+a63ec1ed8de0a7f9d4c503a0f523631c2e5319d3	Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with @PHENOTYPICFEATURE$, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and @DISEASE$.	false
+d89ce1676617bede0472ba13a17e421dbf6aa796	@DISEASE$, a connective tissue disorder characterized by @PHENOTYPICFEATURE$, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4.	has_symptom
+c1be77151c9a14b128de5c796d329d03789e8783	@DISEASE$ (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, @PHENOTYPICFEATURE$ and cognitive delay.	has_symptom
+482b0cbb5029a668af0e3ef981be5e0c66d38cbd	@DISEASE$ (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, @PHENOTYPICFEATURE$, muscular hypertrophy, deafness and cognitive delay.	false
+e5b9b10034807e91e62097ab522a4a2780549fac	Myhre syndrome (MIM 139210) is a developmental disorder characterized by @PHENOTYPICFEATURE$, short hands and feet, facial dysmorphism, muscular hypertrophy, @DISEASE$ and cognitive delay.	false
+4ae82890cc3fe145efd9f0beb0ea51864949fea8	Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, @PHENOTYPICFEATURE$, muscular hypertrophy, @DISEASE$ and cognitive delay.	false
+0e81f3ee9820d668280733ab024a3ab813a67a96	@DISEASE$ (MIM 139210) is a developmental disorder characterized by @PHENOTYPICFEATURE$, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.	false
+11310c85ab6dfdc61584e08ea26b1a7c88e6a041	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, @PHENOTYPICFEATURE$, and progressive optic atrophy.	has_symptom
+b41808696d19587dd89ceaa15f99ba19b7f3cd92	X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, @DISEASE$, and progressive @PHENOTYPICFEATURE$.	false
+d3bd52d93ef8be59102673f022bf0243994bb282	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive @PHENOTYPICFEATURE$.	false
+73c835cda0118ec23184c739b05d96cf3b538312	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset @PHENOTYPICFEATURE$, peripheral neuropathy, and progressive optic atrophy.	false
+811ca581544b753832317a26a81ff09377c114ef	X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset @PHENOTYPICFEATURE$, @DISEASE$, and progressive optic atrophy.	false
+40c84035988ce9995601d3c683e56b5d55900f94	New autosomal-recessive syndrome of @DISEASE$, short stature, growth hormone insufficiency, @PHENOTYPICFEATURE$, hepatic dysfunction, and metabolic acidosis.	has_symptom
+155e4a18b620411c83cec0b28795d34087bac9b1	New autosomal-recessive syndrome of @DISEASE$, @PHENOTYPICFEATURE$, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.	false
+f775f91183f3ac4069d56cd7e89f81fdf6238a1f	New autosomal-recessive syndrome of Leber congenital amaurosis, @PHENOTYPICFEATURE$, growth hormone insufficiency, mental retardation, @DISEASE$ dysfunction, and metabolic acidosis.	false
+ac2019a544393369191352d38e8c4159cce80db4	New autosomal-recessive @DISEASE$ of Leber congenital amaurosis, @PHENOTYPICFEATURE$, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.	false
+6da4b6f198a5b49c87c472bf8c106bc63085e4b4	New autosomal-recessive syndrome of Leber congenital amaurosis, @PHENOTYPICFEATURE$, growth hormone insufficiency, @DISEASE$, hepatic dysfunction, and metabolic acidosis.	false
+e1a825a7b69ee9799de37b2520c3d7bdd3091940	Eye-rubbing is also often a feature of a number of conditions linked to keratoconus such as Down syndrome, atopic keratoconjunctivitis, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+f5e2e7a6de739a10faad9d346e5e2472f0b2f4cd	Patients may have normal intelligence, but some studies suggest that as many as 20% of children with @DISEASE$ without associated anomalies develop @PHENOTYPICFEATURE$.	has_symptom
+fa7f6a33ca5a409e2201275c419c72b76d1915c4	Dominant CRX mutations have not been associated with @PHENOTYPICFEATURE$ or developmental delay that has sometimes been found in @DISEASE$ caused by other genes.	has_symptom
+b08957b54884db0f7de9e0aa5620e606b55e1124	Cerebrovascular disease, multiple sclerosis-like syndrome, @PHENOTYPICFEATURE$, cognitive disfunction, headache and migraine, chorea and @DISEASE$ (CAPS) are discussed as the most prominent CNS manifestations of the APS.	has_symptom
+57069d76df3bc78b0a2e77ff506dc3d95f51d5c3	@DISEASE$ (FA), a genomic instability syndrome that includes @PHENOTYPICFEATURE$ and testicular failure phenotypes, is caused by mutations in genes encoding a complex of proteins involved in repair of DNA lesions associated with DNA replication.	has_symptom
+eccba6d68b1aac500301378d37ae39055e1440c4	@DISEASE$ (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$ (mental retardation).	has_symptom
+9814801b921eb8d48242595829f9c162e466aa25	@DISEASE$ (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (@PHENOTYPICFEATURE$).	has_symptom
+ea5db1c5bb088366ec64633e21858169a411b8f8	The combination of Wilms' tumor with aniridia, ambiguous genitalia/gonadoblastoma and @PHENOTYPICFEATURE$ is defined as @DISEASE$.	has_symptom
+6f394a84d2a986ecb22ebd5899a8d323e7a0ed02	Patient 4: 9-year-old boy with aniridia, genital ambiguity, dysmorphisms and @PHENOTYPICFEATURE$; a heterozygous 11p deletion, compatible with @DISEASE$ was detected.	has_symptom
+b7386f4aaba83dc71966bcd2a76b9a71b7f747fb	The @DISEASE$ is a combination of Wilms' tumor, aniridia, genitourinary anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+9bb9cadb304be85ba5488bd332fadcc60efa7c2e	Genetic abnormalities of this region can lead to Wilms tumor, aniridia, urogenital abnormalities, and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+f3834bac9401f3110f9f1ad76b86cd2487434961	@DISEASE$ is caused by an 11p13 deletion and includes Wilms' tumor, aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$.	has_symptom
+b9619974b0d99771bc79d73fe689467ff4570fbf	@DISEASE$ is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and @PHENOTYPICFEATURE$ (R).	has_symptom
+78fa4c7177eccdbb0aaeca8b347bcc6bc87351a8	[@DISEASE$, Wilms' tumor, aniridia, gonadoblastoma, @PHENOTYPICFEATURE$: a review apropos of 2 cases].	has_symptom
+d9353974bf4c20cbe74bc461966989aa31025ccb	@DISEASE$ (Wilms tumour, aniridia, genitourinary anomalies and mental retardation/@PHENOTYPICFEATURE$), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	has_symptom
+715d5fe6ee29d033b90e4c014c9b4de7755a1d79	@DISEASE$ (Wilms tumour, aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	has_symptom
+43ebdbb967a961db46316eaed98cdcbf11393225	WAGR syndrome (Wilms @PHENOTYPICFEATURE$, aniridia, genitourinary anomalies and mental retardation/@DISEASE$), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	false
+f4942cb7e10389c1f83fdd93f0ea514046f1f721	WAGR syndrome (Wilms @PHENOTYPICFEATURE$, aniridia, genitourinary anomalies and @DISEASE$/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	false
+8e044fc04903e116fef92e028424014d95940928	@DISEASE$ (Wilms @PHENOTYPICFEATURE$, aniridia, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	false
+899ca0a3ca1dfce34d8f6e95c54c8a4088551c31	WAGR syndrome (Wilms @PHENOTYPICFEATURE$, @DISEASE$, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	false
+243061631e72913c33096ca424ef7db445bd552d	WAGR syndrome (@DISEASE$ @PHENOTYPICFEATURE$, aniridia, genitourinary anomalies and mental retardation/intellectual disability), is caused by contiguous deletion of PAX6 and WT1 on chromosome 11p.	false
+e4e878fe974b7ced839a4f92333d4ba9b3ace6ea	Parental origin of WT1 mutations and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+32f6d0d2fea5e9008be1dd40ee2fdb9fd6bc0bf5	Patients with longer duration of @PHENOTYPICFEATURE$ showed higher benefit by an average of -4.0?dB, in contrast to patients with short @DISEASE$ of deafness.	has_symptom
+37f1ce8fb06b1d6fb7404daddf0792afedc4dafb	Patients with longer duration of deafness showed higher benefit by an average of -4.0?dB, in contrast to patients with short @DISEASE$ of @PHENOTYPICFEATURE$.	has_symptom
+7ac36b83b17d15d792fa2815c3a383a42473d1a2	@DISEASE$ and familial perceptive @PHENOTYPICFEATURE$.	has_symptom
+eee876aed2d42ca198b129c6ec825a272369816e	@PHENOTYPICFEATURE$ @DISEASE$ and psychosocial factors significantly predicted hearing ability after CI.	has_symptom
+8b474a68e6fe804e01d58ad4a141fef56f90d604	We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+b32ad43183e42ca5ebbfa958cfb07b5ce84bd807	No correlation between @PHENOTYPICFEATURE$ and @DISEASE$ of the disease or patients' age was found.	has_symptom
+1b6b75425be09213cea501f2144a47b660971130	Here, we report on three heterozygous loss-of-function MAFB mutations causing @DISEASE$ and a dominant-negative MAFB mutation causing DRS and @PHENOTYPICFEATURE$.	has_symptom
+3110cb0dc9ec14ece645d1339444350f30f0103e	Here, we report on three heterozygous loss-of-function MAFB mutations causing DRS and a dominant-negative MAFB mutation causing @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d763c37a430b16e873110e486f1a4b9a92d3d86a	Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of Duane retraction syndrome (@DISEASE$), the Klippel-Feil anomaly, and @PHENOTYPICFEATURE$.	has_symptom
+70db32c3e95ab294334e806b55651607e8abf4b3	Wildervanck Syndrome (WS; cervico-oculo-acoustic syndrome) consists of @DISEASE$ (DRS), the Klippel-Feil anomaly, and @PHENOTYPICFEATURE$.	has_symptom
+844b44eb1ccbd177c8f2288b8966759a8bcb7602	Advanced age and a long @PHENOTYPICFEATURE$ @DISEASE$ may thus reduce satisfaction with CIs.	has_symptom
+b735279f061346672a11e79d000a33980ae138d2	Cochlear implant settings, consistent CI use, and short @DISEASE$ of @PHENOTYPICFEATURE$ could play a role in this result.	has_symptom
+853df0380eb25922cd11fc95e8eb21bad37ba017	Patients with short @DISEASE$ of @PHENOTYPICFEATURE$ have low or no benefit from transcranial CROS supply.	has_symptom
+155d2cbf8d69b56958f021c94b4a51094de839f4	We reported a case of @DISEASE$ in which diffuse fine corneal deposits, pigmentary @PHENOTYPICFEATURE$, pseudopapilledema, and macular edema-like change were observed bilaterally.	has_symptom
+847d1f9c8d73670154a82f1e01c1f7730502aaff	The @DISEASE$ is the rarest and most severe kind of xeroderma pigmentosum, characterized by @PHENOTYPICFEATURE$, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published.	has_symptom
+d761f381d413112174f9b74152af14dc42538a3f	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, @DISEASE$, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+b5edb96e905295a48c43bb45b6de8edd3b73222c	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of @DISEASE$, characterized by microcephaly, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+7521b8018fe76a20b3ba8f43c45be6df6c9d9c48	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by @DISEASE$, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+2fa4531090963bdd689c95f321d6db9e527a2d77	The @DISEASE$ is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+238f94e49b3232fc54ffc00084b41bd13ab6ae50	To determine if alteration in TP63 is responsible for a Chinese patient with @DISEASE$-ectodermal dysplasia clefting (EEC) syndrome, but without @PHENOTYPICFEATURE$/lip.	has_symptom
+522c556b22aee8297befce07ccc5f8f9911cf2ba	Aminoaciduria, renal @PHENOTYPICFEATURE$, and @DISEASE$ with a normal anion gap were also noted.	has_symptom
+1da79a653e1b1d4e6df1b60078db6462e5efdce0	The patients were characterized by @DISEASE$ (n = 41) and multiple renal tubular transport dysfunctions, including hypokalemia (n = 21), hypophorphatemia (n = 29), hypourecemia (n = 19), renal @PHENOTYPICFEATURE$ (n = 38), aminoaciduria (n = 36), low-molecular-weight proteinuria (n = 21).	has_symptom
+a46bab9217d52831559dda64239fb162167540ff	Fanconi syndrome was suggested by multiple proximal tubular defects including renal @PHENOTYPICFEATURE$, hyperuricosuria, hyperphosphaturia, @DISEASE$, and kaliuresis leading to hypokalemia.	has_symptom
+c613d3a4c7593b9b6f7f93a170b883819bef7743	@DISEASE$ with onset at 18 months and an initial diagnosis of @PHENOTYPICFEATURE$.	has_symptom
+d27b7ad0051fe054e88a3b5f303dace595e57037	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	has_symptom
+aeff617ef0652f7f2c69496bfe8def29ea719890	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+031727e2e6e6ee90ae7cf67e8d7cab1cf0a017c7	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+4141d0310e20d85f0dee2b1c7855d6fe803ce574	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, @DISEASE$, cleft palate/bifid uvula, hypodontia was reported.	false
+b324ac672a790aa91e936164896e72a68bba5cf4	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+7b879081ad2ee3ae4faf88cc1eef0d82a3739e19	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, cleft palate/bifid uvula, @DISEASE$ was reported.	false
+b283531dd980c4331fefe3552eb77eff8d19e55f	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, cleft palate/bifid uvula, hypodontia was reported.	false
+1283165c088129f54f28232f616a1ee660ae1fbd	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+dee082342a3d1303cee1ede3dd732b1915d7016b	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, @DISEASE$ was reported.	false
+509a51f6656b0aef5a8b438e4ce7bcaca8e28e9d	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, @DISEASE$ was reported.	false
+892905d4158c9753f825cee298a6172093ca6b05	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+2e386bb86a81871a9924d01c9b6d1cc0d4ab95dc	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+83adfd512b9a105175d9674f5103378b916f800b	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+22d0cd107d9ca8bb42e4dd01ebfed8075320e29e	@PHENOTYPICFEATURE$ seen in this series confirms a previous study describing this feature in a German population, which would suggest it as an intrinsic feature in @DISEASE$.	has_symptom
+1938d9bf790bc0d48a48544467653fbdb62da938	The father, daughter, and son analyzed with clinical and laboratory findings, and reasons of the @PHENOTYPICFEATURE$ in @DISEASE$ are discussed through the literature.	has_symptom
+c9ce6247d347a2d5198ad859baaa1a886cb647a6	@PHENOTYPICFEATURE$ is found in about 50% of children with @DISEASE$ (WBS).	has_symptom
+a65fa2f65a5d3f8db6977db73ea9496f03a7abee	Although growth hormone deficiency is not likely to be a common cause of @PHENOTYPICFEATURE$ in @DISEASE$, we nevertheless recommend evaluation of the growth hormone-insulin-like growth factor I axis in all cases.	has_symptom
+1d70793bcb74c425046e66486250d8145eaf10c8	Here, we report on the three molecular cytogenetically confirmed familial @DISEASE$ detected in a family with familial @PHENOTYPICFEATURE$.	has_symptom
+0bf8d4d083e8bf37ff24b44c032b9e83cb6adc19	@DISEASE$ (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, @PHENOTYPICFEATURE$, mental retardation, and behaviour and cognitive characteristics.	has_symptom
+2f3ace5c87d3a11d919a21c9f1e25aef60722625	@DISEASE$ (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, @PHENOTYPICFEATURE$, short stature, mental retardation, and behaviour and cognitive characteristics.	false
+8f7d7236cf32e1d5819ad712f4361e163174352f	Williams syndrome (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, and behaviour and cognitive characteristics.	false
+0406d036d82773fc97b4160f6678f9e735d18f52	Williams syndrome (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and behaviour and cognitive characteristics.	false
+1a63872941b82e9f1671a44df293b0f4903b7aae	@DISEASE$ (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, short stature, @PHENOTYPICFEATURE$, and behaviour and cognitive characteristics.	false
+368adc57599d98632a882914bb7509d0cd8d1445	It occurs in children and adolescents with gastrointestinal symptoms, dermatitis herpetiformis, dental enamel defects, osteoporosis, @PHENOTYPICFEATURE$, delayed puberty and persistent iron deficiency anemia and in asymptomatic individuals with type 1 diabetes, Down syndrome, Turner syndrome, @DISEASE$, selective immunoglobulin (Ig)A deficiency and first degree relatives of individuals with celiac disease.	has_symptom
+4b6618370aed51658ddaa4c6564d8ffa6627006e	@DISEASE$ is a genetic syndrome involving an unusual facies, @PHENOTYPICFEATURE$, developmental delay and heart defects.	has_symptom
+f637f440b8fbd8940c60028fb85d6f1f17c80c63	Williams syndrome is a genetic syndrome involving an unusual facies, @DISEASE$, developmental delay and @PHENOTYPICFEATURE$.	false
+70366783fc4a1784019316df7e44342432180a64	@DISEASE$ is a genetic syndrome involving an @PHENOTYPICFEATURE$, short stature, developmental delay and heart defects.	false
+52c4b26fa694f2dac9e3acf896e0804eeefbcac4	Williams syndrome is a genetic @DISEASE$ involving an unusual facies, short stature, developmental delay and @PHENOTYPICFEATURE$.	false
+3de41a7cc8cd92dc8ba9f7eae16f7e910301ff23	Williams syndrome is a genetic syndrome involving an @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and heart defects.	false
+d6f3d32e73cd05d03bf7df47df85577ada4e67f4	Williams syndrome is a genetic @DISEASE$ involving an @PHENOTYPICFEATURE$, short stature, developmental delay and heart defects.	false
+85669f84376174ba77be2ac0049283c212ad9428	@DISEASE$ is a genetic syndrome involving an unusual facies, short stature, developmental delay and @PHENOTYPICFEATURE$.	false
+9717744fc85a3f2144afcac1dc2d45dc60e9189a	@DISEASE$ (WBS) is a well-described microdeletion syndrome characterized by specific dysmorphic facial features, peripheral pulmonic stenosis, supravalvular aortic stenosis, hypercalcemia, feeding difficulties, gastroesophageal reflux, @PHENOTYPICFEATURE$, and specific intellectual disabilities (such as visual spatial problems).	has_symptom
+054342a50aacadfee0405a4bb54607ad6851d2ee	@DISEASE$ is often manifested during the neonatal period with @PHENOTYPICFEATURE$, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged.	has_symptom
+1d1645347bc57f48716218e8bc70a715c2ccbeb2	Propionic acidemia is often manifested during the neonatal period with @DISEASE$, @PHENOTYPICFEATURE$, lethargy, and hyperammonemic coma when catabolism is prolonged.	false
+766b415daac1980541bb375662d36cfbbfc67373	Propionic acidemia is often manifested during the neonatal period with @DISEASE$, failure to thrive, lethargy, and hyperammonemic @PHENOTYPICFEATURE$ when catabolism is prolonged.	false
+08bcc5e0e6cbe3f7bd0b1e5f2aefdcf60703fc64	@DISEASE$ is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic @PHENOTYPICFEATURE$ when catabolism is prolonged.	false
+0a94c9709ded67e6542df52f1b75840e12e8e15a	@DISEASE$ is often manifested during the neonatal period with vomiting, @PHENOTYPICFEATURE$, lethargy, and hyperammonemic coma when catabolism is prolonged.	false
+92a53cf3eb134b5709925062889aebe5ac6d2f66	@DISEASE$ was found in a 7-month-old boy who presented with attacks of @PHENOTYPICFEATURE$, anorexia, weight loss, weakness, and hypotonia.	has_symptom
+4d6887bee1b7506f1531df9ddb1a4dbfd72740a6	Propionyl CoA carboxylase deficiency was found in a 7-month-old boy who presented with attacks of @DISEASE$, anorexia, @PHENOTYPICFEATURE$, weakness, and hypotonia.	false
+f3eb8c76d8c26999f3b8db74bebd14a762069e89	@DISEASE$ was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, @PHENOTYPICFEATURE$, weakness, and hypotonia.	false
+8091dd043d86b1120e8039266bdc006f90133af5	Deficiency of PCC results in @DISEASE$ (PA), a metabolic disorder characterized by severe metabolic ketoacidosis, @PHENOTYPICFEATURE$, lethargy, and hypotonia.	has_symptom
+b3543c7c41b3d74eb36ffb0b61a81d6b7db30857	Dysfunction of PCC leads to the inherited metabolic disorder @DISEASE$, which can result in an affected individual presenting with metabolic acidosis, hyperammonemia, lethargy, @PHENOTYPICFEATURE$ and sometimes coma and death if not treated.	has_symptom
+a4402877d7be884bee4e4d9af202da19b32089aa	Although @DISEASE$ and methylmalonic acidemia, two disorders of branched-chain amino acid metabolism often complicated by chronic anorexia and @PHENOTYPICFEATURE$, are not usually treated with parenteral nutrition for fear of amino acid overload and exacerbation of biochemical derangements, we gave long-term parenteral nutrition to two critically ill patients with these disorders.	has_symptom
+da5d743072381c419e8c003775e889c7d9c2e1e0	We describe a 3-year-old boy with @DISEASE$ presenting with a metabolic crisis including headache, @PHENOTYPICFEATURE$, and altered mental status with metabolic acidosis.	has_symptom
+bfd6ccc066cb4ba9f616aeb0eb777608eae9d8d0	We describe late-onset @DISEASE$ in a 12-year-old boy who presented with @PHENOTYPICFEATURE$, cough, and fever, and manifested a precipitous decline in mental status, accompanied by acute encephalopathy and severe neurologic damage, with bilateral basal ganglia involvement upon neuroimaging.	has_symptom
+1e18ce5782face51a3aec272ab6cc066bd96f77d	We describe late-onset @DISEASE$ in a 12-year-old boy who presented with vomiting, cough, and @PHENOTYPICFEATURE$, and manifested a precipitous decline in mental status, accompanied by acute encephalopathy and severe neurologic damage, with bilateral basal ganglia involvement upon neuroimaging.	false
+20e06bcbf89eb35de8261f2b4df9ad621f01a90c	We describe late-onset propionic acidemia in a 12-year-old boy who presented with @DISEASE$, cough, and @PHENOTYPICFEATURE$, and manifested a precipitous decline in mental status, accompanied by acute encephalopathy and severe neurologic damage, with bilateral basal ganglia involvement upon neuroimaging.	false
+6d09b0943dbc16751b34bef2d22389e2d60eba62	Idiopathic inflammation that involves the orbit (orbital pseudotumor) and that has systemic manifestations may mimic more serious conditions, such as metastases from rhabdomyosarcoma or Ewing sarcoma, @DISEASE$ (CRMO), and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis).	has_symptom
+b92552db7aad7fb179441be112031ef9ba7e9910	The syndromes synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) and @DISEASE$ (CRMO) constitute a group of chronic relapsing inflammatory osteoarticular disorders with frequently associated skin eruptions such as palmoplantar pustulosis and acne conglobata and rather characteristic imaging features in the form of osteitis and/or @PHENOTYPICFEATURE$.	has_symptom
+48d0a6fcd8ef9285cd22a8cc33739f3cbe52c33b	The syndromes synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis (SAPHO) and @DISEASE$ (CRMO) constitute a group of chronic relapsing inflammatory osteoarticular disorders with frequently associated skin eruptions such as palmoplantar pustulosis and acne conglobata and rather characteristic imaging features in the form of osteitis and/or hyperostosis.	has_symptom
+828bcc2f50d467f906e8c6a53e7d85555717ca58	Symptoms of this syndrome, which may not all be present, are pustulotic skin diseases (pustulosis palmoplantaris or severe acne) associated with osteoarticular lesions (mainly sternoclavicular @PHENOTYPICFEATURE$, spondylarthropathies or @DISEASE$).	has_symptom
+05dd36f9d67646b7abef67292b3cfdfd865e0c70	Non-infective causes include the related conditions of @DISEASE$ (CRMO) and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis) syndrome.	has_symptom
+8d1ba0143bb3349fc26dd5aa1b57230998ab6ce9	Chronic @DISEASE$ (CNO), chronic recurrent multifocal osteomyelitis (CRMO) and synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome are autoinflammatory disorder(s) in which sterile osteomyelitis is frequently accompanied by inflammatory conditions of the joints, skin, or intestine.	has_symptom
+a52b52d1c5b42a3a5fdeb8e0762bac30df25aa60	Chronic non-bacterial osteomyelitis (CNO), @DISEASE$ (CRMO) and synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome are autoinflammatory disorder(s) in which sterile osteomyelitis is frequently accompanied by inflammatory conditions of the joints, skin, or intestine.	has_symptom
+375e22b36d9c7b2f32ae871818773ae957980851	Five adults and one adolescent presented with additional non facial bone, joint and skin manifestations consistent with the diagnosis of SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, osteitis) syndrome, or @DISEASE$.	has_symptom
+f66896e9f7b3e73937192bd54a4aeee8c0377239	@DISEASE$ (CRMO) and Synovitis Acne Pustulosis @PHENOTYPICFEATURE$ Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease?	has_symptom
+1c348557a81720a899d69c84975ee695a3408347	To date there is no uniformly effective treatment for either @DISEASE$ (CRMO) or synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome.	has_symptom
+7de5dec528615b62e48509c209be946e87e83aa3	@DISEASE$ (CRMO) and synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis (SAPHO) syndrome with associated neutrophilic dermatoses: a report of seven cases and review of the literature.	has_symptom
+4728532a3600ab99c8dbad14d9c08faa17ffd834	Retrospective single-centre comparative study of pediatric and adult patients diagnosed with @DISEASE$ (CRMO)/CNO or synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis (SAPHO) syndrome treated at the Medical University of Graz.	has_symptom
+405db3181b2f7f09d0a7b1512c1233f029f3ff76	Despite medical therapy and improved wound healing, she died to @PHENOTYPICFEATURE$ that left her comatose, thought to be secondary to central nervous system advancement of her @DISEASE$.	has_symptom
+fcce088756c012be3a0ca9d83d40d7a6e3503b19	At 20 years old she suffered from disseminated intravascular coagulopathy (DIC) and @DISEASE$ (HPS) with respiratory symptoms and repeated @PHENOTYPICFEATURE$.	has_symptom
+7796573ca83a25d69c43ee9d4b0c2a88e8713918	At 20 years old she suffered from disseminated intravascular coagulopathy (DIC) and hemophagocytic syndrome (@DISEASE$) with respiratory symptoms and repeated @PHENOTYPICFEATURE$.	has_symptom
+4aba6bd746e730656a23e5ec84f4e7c60b69702c	New-onset @PHENOTYPICFEATURE$ in two adults with @DISEASE$.	has_symptom
+c945dc87570c1cd46f72aac1b08bff1c3e8cb41d	Cerebral hyperperfusion syndrome (@DISEASE$) results from autoregulatory failure of cerebral blood flow following carotid endarterectomy (CEA) or carotid artery stenting (CAS) and encompasses a range of neurological findings including headache, @PHENOTYPICFEATURE$, intracranial hemorrhage (ICH), altered mental status and focal neurological changes.	has_symptom
+afb4640bf01e1b8f9070f5dae7d2e1d4f6e98682	We therefore describe the case of an 8 month old baby with @DISEASE$ with a purely neurological condition involving irritability, horizontal rapid eye movements and vertical saccadic movements of both eyes and focal convulsive @PHENOTYPICFEATURE$.	has_symptom
+ffc58fe568064c7ea0c62c734331a91c7e573a06	Hyperperfusion syndrome (@DISEASE$) is a neurological syndrome, which consists of a triad of unilateral headache, @PHENOTYPICFEATURE$ and focal neurological deficits.	has_symptom
+2a0ae62d1bf8b3ff81d097c5427857104a491868	It is reminded that myelocele often coexists with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+b319cd169b16639c89ec3b4a9401fd59b4e3a38b	Improvement of obstructive sleep apneas caused by @PHENOTYPICFEATURE$ associated with @DISEASE$ following surgery.	has_symptom
+204003b3c755d0294a7bb590c190565f47d7eeff	@DISEASE$ was found in 71 (86.6%) patients, 57 of whom (80%) were in Group "A" with active @PHENOTYPICFEATURE$.	has_symptom
+0f9b9895e7e503483c5cb41ef9dd4aebf56c6b4f	As for etiology, the incidences of primary hydrocephalus and @PHENOTYPICFEATURE$ complicated by @DISEASE$ and meningocele were significantly higher in term infants than in preterm infants.	has_symptom
+94ef4865040a7757ab497a859d84f5fa39dc281b	As for etiology, the incidences of primary @PHENOTYPICFEATURE$ and hydrocephalus complicated by @DISEASE$ and meningocele were significantly higher in term infants than in preterm infants.	has_symptom
+c6d057b09996829a74ade7a451d2337ae9b81c41	The authors report on a 1-year-old child with contiguous myelomeningocele and lipomyelomeningocele centered on Type I split cord malformation with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d963caf1495be968d8a046247aa135cd91cb1c93	Contiguous triple spinal dysraphism associated with @DISEASE$ and @PHENOTYPICFEATURE$: an embryological conundrum between the unified theory of Pang and the unified theory of McLone.	has_symptom
+4e916deddc0b1a75b8c7ca7a15be439e6d00726b	Patients with @DISEASE$ treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, @PHENOTYPICFEATURE$, and restricted skull growth).	has_symptom
+c423da407847d4f2fd5c0f673e2f5ddc33cb133e	They involve various ionic channels: Na+ channels in the generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) among the idiopathic generalized epilepsies, nicotinic receptors in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), K+ channels in @DISEASE$, and GABAA receptors in some forms of generalized epilepsy.	has_symptom
+27f42e5fc8ef595a1e0b39a19f823aab0aebc8ef	Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (@DISEASE$, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ "plus"), neurotransmitter receptors (Angelman syndrome), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (Unverricht-Lundborg disease).	has_symptom
+dfda3154cf2030df3fc85a731d7451e88eba773a	Two human epilepsy syndromes, @DISEASE$ and generalized epilepsy with @PHENOTYPICFEATURE$ plus, represent K+ and Na+ channelopathies, and other newly defined syndromes have now been mapped to chromosomal regions that are rich in ion channel genes.	has_symptom
+ab1a2f168a8ecbd5bdfeebea1537f782f31ef975	Generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+), @DISEASE$ and nocturnal frontal lobe epilepsy, three autosomal dominant idiopathic epilepsies, result from mutations affecting voltage-gated sodium and potassium channels, and nicotinic acetylcholine receptors, respectively.	has_symptom
+c4296e56392dc2bf726f61d431b77fce04f2676d	These issues included the syndrome of @DISEASE$, the treatment and prognosis of infantile spasms, the prevention of @PHENOTYPICFEATURE$ with oral diazepam, the treatment of status epilepticus, and the identification of predictors of outcome of childhood epilepsy that may impact therapeutic decisions.	has_symptom
+0f6041df7538969a3315a8f315d2223c762f7196	At the present time, clinical use of genetic testing in epilepsy is greatest in suspected cases of severe myoclonic epilepsy of infancy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, atypical cases of @DISEASE$ and 'occult' cases of autosomal-dominant nocturnal frontal lobe epilepsy without a family history.	has_symptom
+cbc9201648420a3896d3f7053bd9e94c2f34ce8f	Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with @PHENOTYPICFEATURE$, autosomal dominant nocturnal frontal lobe epilepsy, @DISEASE$ and episodic ataxia type 1 with partial seizures) have been identified, shedding new light on the pathophysiology of epilepsy as these diseases are caused by ion channel mutations.	has_symptom
+33bb42a8e4e9c0b135161a800382cbd6170d8296	These include @DISEASE$ due to mutations in KCNQ2 or KCNQ3, generalized epilepsy with @PHENOTYPICFEATURE$ plus due to mutations in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile myoclonic epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types.	has_symptom
+ba4140e54766d64c2c42e6fd6b9b67af918c86d1	These include benign familial neonatal convulsions due to mutations in KCNQ2 or KCNQ3, generalized epilepsy with @DISEASE$ plus due to mutations in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile @PHENOTYPICFEATURE$ epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types.	false
+b4448be99a72434be590f3d321a33ae1178f870d	These include @DISEASE$ due to mutations in KCNQ2 or KCNQ3, generalized epilepsy with febrile seizures plus due to mutations in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile @PHENOTYPICFEATURE$ epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types.	false
+9d7723a1bf765376648d4dc6e154db2fc802ce81	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and @PHENOTYPICFEATURE$, cognitive and motor decline, seizures, and pronounced brain atrophy.	has_symptom
+eae61d10002872ad1ef81cf53757806389211429	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary @DISEASE$ characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, @PHENOTYPICFEATURE$, and pronounced brain atrophy.	false
+b0449913479a0508fbbd2827f5530250f82ba376	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and @DISEASE$, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+a5901142a23c449e5dfe5ebed79a39234eef0947	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+28dcec10a118d8ac6142dd20f07602a3c0feffe5	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and @DISEASE$, cognitive and motor decline, @PHENOTYPICFEATURE$, and pronounced brain atrophy.	false
+863ea325c8e1135b5668cfbbcc6ea06f795268b2	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive @DISEASE$ and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+29f7aa7ba568fd683443e2edbe419d6586e4f290	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, @PHENOTYPICFEATURE$, and pronounced brain atrophy.	false
+3fff79e32c2ec6223c95a239f3fb0b2ea87aa6a8	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive @DISEASE$ and vision loss, cognitive and motor decline, @PHENOTYPICFEATURE$, and pronounced brain atrophy.	false
+69f4e84fe2360f1867340f07b1dc77b873caf45b	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary @DISEASE$ characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+00fc772fb588e9517319973ebfa3658898169be2	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset @PHENOTYPICFEATURE$, psychomotor deterioration, and seizures.	has_symptom
+95c0ac49661c0dc39bbcef18ec374a325c916648	The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset @DISEASE$, psychomotor deterioration, and @PHENOTYPICFEATURE$.	false
+4d8b7562e4fafb52af61161cd4d5d7cc2034ae73	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset visual loss, psychomotor deterioration, and @PHENOTYPICFEATURE$.	false
+b8bba3d62521a92c68ff14adceb2ea504d47111a	We then analyze the main dyssomnias and parasomnias described in MS: insomnia, circadian rhythm disorders, drug-induced @PHENOTYPICFEATURE$, restless legs syndrome (RLS) and periodic leg movements (PLM), respiratory disorders during sleep, @DISEASE$ and REM sleep behavior disorder (RBD).	has_symptom
+71125f23e308e7310a2fd8f853fb5e8a2373c65b	Patients with @DISEASE$ exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and @PHENOTYPICFEATURE$.	has_symptom
+40229f6891df93a62a24781f853206849bfc6932	Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, @PHENOTYPICFEATURE$, variable developmental delay, multiples @DISEASE$ while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and genital abnormalities.	false
+9e9f735f258834cce1b50e88327df491ce99892b	Patients with @DISEASE$ exhibit distinct dysmorphic features, @PHENOTYPICFEATURE$, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and genital abnormalities.	false
+1f2660a15281ada56843e6c9af955536858364f3	Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, @PHENOTYPICFEATURE$, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and @DISEASE$.	false
+ac76c180a13e5e6756e96b7fb0c7568d35220c09	Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, @PHENOTYPICFEATURE$, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, @DISEASE$ dysmorphism associated with skeletal and genital abnormalities.	false
+c07e0c8202634eee9027137e2eb7f1be924cf4bc	@DISEASE$ is a rare autosomal recessive syndrome characterised by the association of growth retardation, @PHENOTYPICFEATURE$, cleft lip and palate, and thumb and radial ray abnormalities.	has_symptom
+d9735fe04eb3666df25c1852181c96daa0cd75d2	Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and thumb and radial ray abnormalities.	false
+1e302f135e5a61f4e61083e44315fca407fe868f	@DISEASE$ is a rare autosomal recessive syndrome characterised by the association of @PHENOTYPICFEATURE$, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities.	false
+84603bc3103b98d95417b550cdc633f34b458203	Juberg-Hayward syndrome is a rare autosomal recessive @DISEASE$ characterised by the association of @PHENOTYPICFEATURE$, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities.	false
+057cf30fa536ec62c3e7e4c00ef05a5ab33dfd98	Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of @PHENOTYPICFEATURE$, @DISEASE$, cleft lip and palate, and thumb and radial ray abnormalities.	false
+5adf117917b332b08bbffc21c57aa673f99b7a9d	We conclude that the diagnosis of @DISEASE$ can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, @PHENOTYPICFEATURE$, thumb/radial anomalies, and cleft lip/palate.	has_symptom
+7c4f2dc93be10fd19d511aad844c78e1b273055b	VACTERL-@DISEASE$ is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and @PHENOTYPICFEATURE$.	has_symptom
+32e18ad05a222cdfe0adb19f91aed1fdda7244f7	The VACTERL-@DISEASE$ is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with @PHENOTYPICFEATURE$.	has_symptom
+ebc1b63af28fba04ff2889ab66e02dab1c93eb60	The VACTERL-H syndrome is a rare combination of vertebral anomalies, @PHENOTYPICFEATURE$, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with @DISEASE$.	false
+c3842cdf5e6214b2fac121b7712907d732397269	The VACTERL-@DISEASE$ is a rare combination of vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus.	false
+4c2f1c0990ff03ae6c7b0652896b2ca30c5f08d8	The VACTERL-@DISEASE$ is a rare combination of @PHENOTYPICFEATURE$, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus.	false
+b844238f4c41421abcbee23463ce5bdc314f62e7	The VACTERL-H syndrome is a rare combination of @PHENOTYPICFEATURE$, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with @DISEASE$.	false
+7f03a1c8efbf82d8ad78e42a8cb422027b4700aa	The VACTERL-@DISEASE$ is a rare combination of vertebral anomalies, @PHENOTYPICFEATURE$, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus.	false
+4ca7e987de8653bffc8e4bbc74d143e7c2b29b63	The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with @DISEASE$.	false
+977d52f3f37fb01fcdadb9a9527a97a02ebde056	@PHENOTYPICFEATURE$ as a presenting feature of late onset @DISEASE$.	has_symptom
+a7b250ac0b55ac4abb4ebaddbb33712967004c89	Our 2 cases postulate that @PHENOTYPICFEATURE$ may be an early and prominent manifestation of late onset @DISEASE$.	has_symptom
+a3a9b3719ecde88802426fdb8115ae3cfc9cf77b	Clinical @PHENOTYPICFEATURE$, mainly of focal origin, with progressive slowing and paroxysmal discharges on EEGs, usually appeared during the later stages of @DISEASE$, X-linked childhood adrenoleukodystrophy, and classic Pelizaeus-Merzbacher disease.	has_symptom
+52593059840c4afc445c201853d0a606f214a8c9	Pre-treatments of rats receiving 120% of citalopram @DISEASE$ with diazepam (1.77 mg/kg) and cyproheptadine (17.1mg/kg) prevented @PHENOTYPICFEATURE$ and death, but propranolol pre-treatment was ineffective.	has_symptom
+a42645a403623427cdf6c9d1c1e700a6052bb4b4	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @PHENOTYPICFEATURE$, blindness, deafness, and death.	has_symptom
+0013ceab416b187a4a3a50d1ee52acee043cbb4d	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @PHENOTYPICFEATURE$, blindness, deafness, and death.	has_symptom
+d9d39b5a78cfa87cb306186b659bf44e7eb05ee7	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+852db1be3ac51512d9993432bf7ceb7c4025667d	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, blindness, @PHENOTYPICFEATURE$, and death.	false
+e05fa9d8ab1361b2a2c0f134b5f948bf7c83188b	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+9be9cd495c1723d9e6e66e328ecfbf6c45495ba5	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, blindness, @PHENOTYPICFEATURE$, and death.	false
+aef7147a0038e5f6ec2d404bbea6cd1e7effc193	Metachromatic leukodystrophy (MLD) is an inherited @DISEASE$ that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, blindness, @PHENOTYPICFEATURE$, and death.	false
+7bcdc0893ed492647bd75c014b310d629cdf02cc	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @DISEASE$, @PHENOTYPICFEATURE$, deafness, and death.	false
+a1ff9763f596f43c325bd92fa8745bf890a5f907	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+2b5b50b9b5652735ed43149b89ea50baf884d01c	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+bab5f131ac4e0619f54080f6d2bd71c5c84c68ef	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, @DISEASE$, blindness, @PHENOTYPICFEATURE$, and death.	false
+94f01e6df1e7cec91f96b83ebdb55889c83c9147	Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, @DISEASE$, blindness, deafness, and death.	false
+a0860c0b3e52b77230b9613e02f7a50e71d5f43d	Metachromatic leukodystrophy (MLD) is an inherited @DISEASE$ that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+bac146b407a0cd26aacacf311ad1665e9bbdd333	Metachromatic leukodystrophy (MLD) is an inherited @DISEASE$ that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+67d0a832e73fb53e40b106e45b0027ce0a5be68e	We conclude that recurrent @PHENOTYPICFEATURE$ are common in @DISEASE$ and may occur at any stage of the disease, particularly in patients with juvenile onset.	has_symptom
+6a123fbdb59c0fdd2919e420168b02936f1e42ff	Recurrent @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+74c8d34f884ed3d9acfa7a254b61bf90a7cbe270	To this date, no report has given a detailed discussion of the type of @PHENOTYPICFEATURE$ and ictal EEG in @DISEASE$.	has_symptom
+fe26156761af2389ad59460b61d2c478a087b7cf	The unusual presentation of juvenile onset metachromatic leukodystrophy (@DISEASE$) and frequent complex partial seizures in a patient led us to perform a retrospective study of 18 patients with MLD to identify the prevalence and type of recurrent @PHENOTYPICFEATURE$ during the first 2 years of the disease.	has_symptom
+1cbd51f8ca7b71e75213645d69d74495cfb5c938	The unusual presentation of juvenile onset metachromatic leukodystrophy (MLD) and frequent complex partial seizures in a patient led us to perform a retrospective study of 18 patients with @DISEASE$ to identify the prevalence and type of recurrent @PHENOTYPICFEATURE$ during the first 2 years of the disease.	has_symptom
+b5bb90a7b2e03b1b7d7f1d7b55006eb3c856d111	The unusual presentation of juvenile onset @DISEASE$ (MLD) and frequent complex partial seizures in a patient led us to perform a retrospective study of 18 patients with MLD to identify the prevalence and type of recurrent @PHENOTYPICFEATURE$ during the first 2 years of the disease.	has_symptom
+922b89c48a37f0b49f3e3029153f50fe3ecc22fe	@PHENOTYPICFEATURE$ were significantly increased in rats receiving 80% and 120% of citalopram @DISEASE$ versus controls (p<0.05 and p<0.01, respectively).	has_symptom
+238381ca5046b25b3d31427b92b0f875886cb2ae	We have used local injections of botulinum toxin into the appropriate muscles for treatment of disabling focal or segmental dystonia in 93 patients with torticollis, blepharospasm, @DISEASE$ (OMD), limb dystonia, lingual dystonia, and dystonia adductor @PHENOTYPICFEATURE$, in addition to four patients with hemifacial spasm.	has_symptom
+f635382a156b74431e47ed215afe071d4c6e96b6	The use of bisphosphonates in non-fragility conditions, such as @DISEASE$, avascular necrosis, bone cysts and @PHENOTYPICFEATURE$, is also discussed.	has_symptom
+c229146772b646935b284c3d9ef3539868d4874f	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (@DISEASE$), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	has_symptom
+566f86564d3fb3c0b7ed1175ddf5500878ca4cff	Clinicopathological studies of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3799c833280ec1233425bdcb6fc552bd61a5cefa	@PHENOTYPICFEATURE$ in Wegener's granulomatosis, @DISEASE$ and microscopic polyangiitis.	has_symptom
+e144b1f4746b8d434b3d8417b9cebdeb2e32dd53	Montelukast-related @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+1088d21ea6dd0ae1173f3c9723dcfe66e8188833	@PHENOTYPICFEATURE$ associated with allergic granulomatous angiitis (@DISEASE$): clinical features and histological findings.	has_symptom
+41180ff42150c666a412a7b32a9afbde977fc92d	We assessed the clinicopathological features of 28 patients with @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+20e2359de614861465c69ac460020b4511963763	Efficacy of high-dose intravenous immunoglobulin therapy for @PHENOTYPICFEATURE$ in the remission stage of eosinophilic granulomatosis with polyangiitis (EGPA, @DISEASE$).	has_symptom
+f6efc1f3b2329fa410a2d5615a9049ec0ee8c1da	Efficacy of high-dose intravenous immunoglobulin therapy for @PHENOTYPICFEATURE$ in the remission stage of @DISEASE$ (EGPA, Churg-Strauss syndrome).	has_symptom
+65f9204cf67c3f8675459bc9c6d31f7c51c39f77	A patient with @DISEASE$ is described, in whom @PHENOTYPICFEATURE$ was the principal finding on admission.	has_symptom
+914f0d09f3f041e7a9d510d1f0473027aa962b59	Most patients with eosinophilic granulomatosis with polyangiitis (EGPA ; @DISEASE$) suffer from @PHENOTYPICFEATURE$.	has_symptom
+fcc57148dd7a2d41d84896d5b7ec89b4a81c31af	Intravenous immunoglobulin for chronic residual @PHENOTYPICFEATURE$ in eosinophilic granulomatosis with polyangiitis (@DISEASE$): a multicenter, double-blind trial.	has_symptom
+455be9fdde8d5029d4e8b2054084362fda74a3b3	Intravenous immunoglobulin for chronic residual @PHENOTYPICFEATURE$ in @DISEASE$ (Churg-Strauss syndrome): a multicenter, double-blind trial.	has_symptom
+705291687d65e918039f563c75bad218bdff91b2	@PHENOTYPICFEATURE$ in @DISEASE$ associated with IgA-C3 deposits.	has_symptom
+8fe6983f5ef4719dc2d2b51bb3f786d1a10b1f05	@DISEASE$ (XLHED), which is characterized by @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	has_symptom
+beb3d6b53913173a73f342012c6294d8079d2d55	@DISEASE$ (XLHED), which is characterized by hypodontia, hypotrichosis, and @PHENOTYPICFEATURE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+4c5c36ae4e159ccd4fff18cde4af73eaf1eee6ff	X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by @DISEASE$, @PHENOTYPICFEATURE$, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+65ed99408850c98f3c6397aa260e1691eff1b545	@DISEASE$ (XLHED), which is characterized by hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+822680df7eb01c378cea8d5abb4c6dbddaae645e	X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by @DISEASE$, hypotrichosis, and @PHENOTYPICFEATURE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+9537d7ac91c1a117c86fe5c0d5354cbf254905b2	@PHENOTYPICFEATURE$, hypohidrosis, sparse hair and characteristic faces are the main characters of @DISEASE$ (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency.	has_symptom
+49e07fe8b1671e9e8268ca1f78f419f6758fdc1b	Hypodontia, @PHENOTYPICFEATURE$, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (@DISEASE$) deficiency.	false
+c113787f6aab53976d466d381025f294e2107fe8	@DISEASE$, @PHENOTYPICFEATURE$, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency.	false
+1fbd9252645843d0f96c6e841426cbf2f735da58	Hypodontia, @PHENOTYPICFEATURE$, sparse hair and characteristic faces are the main characters of @DISEASE$ (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency.	false
+8a77a0d1de1f3e6c9b4a159bb32040de6b5a9e5c	@DISEASE$ (XLHED) can be characterized by hypohidrosis, sparse hair, @PHENOTYPICFEATURE$, and characteristic facial features and is usually caused by mutations of ectodysplasin A (EDA) gene located on the X chromosome.	has_symptom
+07eba03fb10ef0ae12e3753250d22ef20dc96681	The @DISEASE$ (HED) is characterized by hypohidrosis, hypotrichosis and @PHENOTYPICFEATURE$.	has_symptom
+0784ce3b7a9ab48250c3539fc661d9ccb69df9a9	The X-linked hypohidrotic ectodermal dysplasia (HED) is characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypodontia.	false
+2d417a27937899b7c88c1cf9bcfdc3c29dec4f0a	The X-linked hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by hypohidrosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+7b22a9677631051d6bdfeae922d626f52879b032	The @DISEASE$ (HED) is characterized by hypohidrosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+6cab78006876fb20ca7fe5d5da489b1813ce354d	The X-linked hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6b5236a4bdc3de379635fb33f5f5470cc5c8a90d	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by partial or complete absence of sweat glands, hypotrichosis, @PHENOTYPICFEATURE$, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	has_symptom
+3a5204c4138b6e3ece3d6fe65a049f76626d2cb7	Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, @PHENOTYPICFEATURE$, @DISEASE$, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	false
+27586280bad3c9a956560e0c4b8830a81ee05431	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by partial or complete absence of sweat glands, @PHENOTYPICFEATURE$, hypodontia, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	false
+7ffb8c4f0c7b4899a4f542e902bc65e59a19ea19	@DISEASE$ (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, @PHENOTYPICFEATURE$, hypodontia, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	false
+9285f1fe00ac0a724bd42e979fa64b5bb2e6059c	@PHENOTYPICFEATURE$ and sweat pore counts in detecting carriers of @DISEASE$.	has_symptom
+9cc2a1287a490ec3460eeb86d986a6ccedf373fe	@DISEASE$ (XLHED) is characterized by @PHENOTYPICFEATURE$, hypohidrosis, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene.	has_symptom
+a66c4dac58fe384051e22c61eb17c76361dc7c16	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene.	false
+c4b5cb98e2f1460d73ac490edddf9d6b759fd3a8	@DISEASE$ (XLHED) is characterized by hypodontia, @PHENOTYPICFEATURE$, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene.	false
+f4cee49743b8741625abd42eadac5876e5098f6a	@DISEASE$ is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, self-mutilation, choreoathetosis, and hyperuricemia.	has_symptom
+74dc2a45ff892fbcbfb715d370427cbd56248e10	@DISEASE$ (LNS) is an X-linked genetic disorder resulting in hyperuricemia, choreoathetosis, @PHENOTYPICFEATURE$, and self-injurious behavior.	has_symptom
+b2c48632d27bdf4427c636b43a98091a47fba51c	A 12 year old boy with @DISEASE$ presented with signs of compulsive automutilation, motoric and @PHENOTYPICFEATURE$ and cerebral palsy.	has_symptom
+074c1cdc5f566392a0b4f6746226cc7c871e4841	The @DISEASE$: self-destructive biting, @PHENOTYPICFEATURE$, neurological disorder and hyperuricaemia.	has_symptom
+693412987955f83987b9bb85158bfbc6f6848078	Other less commonly associated disorders include obsessive-compulsive disorder, depression, @PHENOTYPICFEATURE$, neurosyphilis, @DISEASE$, and structural brain lesions.	has_symptom
+1a2a58bb134270aae30f3655cffc4f946e859f0d	@DISEASE$ is a neurological paediatric condition characterized by @PHENOTYPICFEATURE$, choreathotosis and self-mutilation.	has_symptom
+6e70098fdbf4ff2883096e17d4ffb94aae913ebc	@DISEASE$ is a genetic disorder resulting in hyperuricemia, choreoathetosis, @PHENOTYPICFEATURE$, and self-mutilation.	has_symptom
+526ff0503bc6c74de2087b203cc870c330cc938b	The 8 patients with the @DISEASE$ presented choreoathetosis, corticospinal motor system dysfunction, @PHENOTYPICFEATURE$ and signs of self mutilation.	has_symptom
+17bce6e687644fe4fd2b0b871659787ac575db3a	@DISEASE$ (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, spasticity, @PHENOTYPICFEATURE$ and self-mutilation.	has_symptom
+267fbef4213930758010f52a40e4e3030555be36	@DISEASE$ (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, @PHENOTYPICFEATURE$, mental retardation and self-mutilation.	false
+156e8662e83e81317bd698177c592760b3c49e30	Lesch-Nyhan syndrome (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, @PHENOTYPICFEATURE$, @DISEASE$ and self-mutilation.	false
+1997ddbb645bd35a4cb6d6ced7e8dbb1069f43e3	The complete deficiency of HPRT is diagnostic of @DISEASE$ manifested by choreoathetosis, spasticity, @PHENOTYPICFEATURE$, and self-injurious behavior.	has_symptom
+a273f078ca5b74b84e1c1114c4867d3a526454c1	The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, @PHENOTYPICFEATURE$, @DISEASE$, and self-injurious behavior.	false
+44c880b4f32c548ac2821bf60b7830d779ab11d2	The complete deficiency of HPRT is diagnostic of @DISEASE$ manifested by choreoathetosis, @PHENOTYPICFEATURE$, mental retardation, and self-injurious behavior.	false
+7a1d6be82206b0947f08a84e35d4ef47aa6f3330	Clinically mild @PHENOTYPICFEATURE$ with a reversible splenial lesion and nonconvulsive status epilepticus in a schizophrenic patient with @DISEASE$.	has_symptom
+f26e419dedd4e15732b5204571348790c47d5e02	In light of her fever, @PHENOTYPICFEATURE$, autonomic instability, elevated creatine kinase levels, and muscle rigidity, a diagnosis of @DISEASE$ was made.	has_symptom
+4d2d9d00b9f460cd20a37672eaa1e53dc59b77d7	The NMS-like @PHENOTYPICFEATURE$ that develops in association with the use of antidepressants indicates that @DISEASE$ and SS are spectrum disorders induced by drugs with both antidopaminergic and serotonergic effects.	has_symptom
+653dcca2ad329a14918b1be701ba862411905215	Neonatal @PHENOTYPICFEATURE$ (NE) and neonatal maladjustment syndrome (@DISEASE$) are terms used for newborn foals that develop noninfectious neurologic signs in the immediate postpartum period.	has_symptom
+41bd98c1fa838a5571e7ac36c4a7001fa466950e	Genetic elevation of cardiac hypoxia-signalling after birth in ?MHC-Cre::@DISEASE$(fl/fl) mice also prevented electrocardiographic maturation, leading to @PHENOTYPICFEATURE$ and death before weaning.	has_symptom
+4a015dadc0cfe46c705f2af4353b3773916535c0	The particular relevance to endocrinologists is the detection of pheochromocytomas in 35% and islet cell tumors in 17% of @DISEASE$ patients, which can be associated with hypertension, hypoglycemia, @PHENOTYPICFEATURE$, and carcinoid syndrome.	has_symptom
+19836a346c80dc8b25ccb33d3c1a130b6d1631df	The particular relevance to endocrinologists is the detection of pheochromocytomas in 35% and islet cell tumors in 17% of VHL patients, which can be associated with hypertension, @PHENOTYPICFEATURE$, @DISEASE$, and carcinoid syndrome.	false
+e2445a69ec087e71d7324094cec6c9cf0a3bbc1c	The particular relevance to endocrinologists is the detection of pheochromocytomas in 35% and @DISEASE$ in 17% of VHL patients, which can be associated with hypertension, @PHENOTYPICFEATURE$, cardiac arrhythmias, and carcinoid syndrome.	false
+7f21015ed762e761d3d0612f54d1dfda3875860a	The particular relevance to endocrinologists is the detection of pheochromocytomas in 35% and islet cell tumors in 17% of @DISEASE$ patients, which can be associated with hypertension, @PHENOTYPICFEATURE$, cardiac arrhythmias, and carcinoid syndrome.	false
+a6e80df770db82eccebfbd497de83f90a9e89b50	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	has_symptom
+68277a8dfd1a4deca6259c86d13b693fd3d8caea	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @DISEASE$/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+48b1b669f535869803ca54e9567a54a7d5ec1f0b	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @DISEASE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+5e25d2f07295a91e6d7aa8235586c57b76e8cff3	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+78b7f098dc9b45b99eddaf2f0f10b8a0bda2f92d	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+485be61fe746db7462655b5a1d6acaa8626819aa	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+b2a762efdb4e91b8e219e1faae047ce31575cac3	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @DISEASE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+582881ff21befbb860643850af840974f61dba4c	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+e33d3c4bc86b8e3ad7463d9d450c9830288abacc	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+3d2c0b9f459cf3703ee5d644f9e88b8617bee12c	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @DISEASE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+23ffbc904376212abca996a2261eb19b70aabb4f	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+acb1c73fbb47e7ecbdba5892ddb4084f6fea57a2	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+cb2bd1a8eb055b8f36505ea59f3364ff8d8ea02a	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+8350314eb6fa111b3a0a2338218684f12e8eae72	These data suggest that the elevated levels of GABA and GHB that occur in SSADH(-/-) lead to a use-dependent decrease in GABABR-mediated function and raise the possibility that this GHB- and GABA-induced perturbation of GABABR could play a role in the pathogenesis of the seizures and @PHENOTYPICFEATURE$ observed in @DISEASE$.	has_symptom
+0d4d2f02cc34abbfdbf11129787f7cdedb502224	These data suggest that the elevated levels of GABA and GHB that occur in SSADH(-/-) lead to a use-dependent decrease in GABABR-mediated function and raise the possibility that this GHB- and GABA-induced perturbation of GABABR could play a role in the pathogenesis of the @PHENOTYPICFEATURE$ and @DISEASE$ observed in SSADH deficiency.	false
+74016aed3b4ebe9bd92ae834961605dba1946631	These data suggest that the elevated levels of GABA and GHB that occur in SSADH(-/-) lead to a use-dependent decrease in GABABR-mediated function and raise the possibility that this GHB- and GABA-induced perturbation of GABABR could play a role in the pathogenesis of the @PHENOTYPICFEATURE$ and mental retardation observed in @DISEASE$.	false
+327c54d3715f60039bfa9a2d81703652de5c2212	@PHENOTYPICFEATURE$ and hypotonia seen in the knock out mouse for Canavan disease is not due to @DISEASE$.	has_symptom
+9eb55437d63eee8814405f90109593fb58b0a4a0	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (@DISEASE$, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and @PHENOTYPICFEATURE$ due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	has_symptom
+0ea7ea19e097c1d42b7909b708d8295325a37926	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: @DISEASE$ (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and @PHENOTYPICFEATURE$ due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	has_symptom
+2ebd5f34c8535ba6576df807bb179708be78571f	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: @DISEASE$ (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and @PHENOTYPICFEATURE$ (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	has_symptom
+4f0fa86be0034654dea87302172355b8dd53161a	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (@DISEASE$, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and @PHENOTYPICFEATURE$ (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	has_symptom
+128666fd47aedce1d908610fc1f7d4c05d98c95d	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+a9a3006d8bc03107eecb277e82f4470146e88963	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) @DISEASE$, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+97bac34c3310d1c53d377a7083ba23ef9149b9b0	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and @DISEASE$ due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+083a3710de1068edea637e18c4b8516488609110	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (@DISEASE$, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+65a8324551363cf944d50dc776ac505fc169aa10	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old @DISEASE$ boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+312c6f5fd37a033cdffc9214f7c7a5fec8412a24	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and @DISEASE$ (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+d0579968d99af435a5bef801f49bfa6c6beac629	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, @DISEASE$, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+4de386b27f13e69db731f722407e21ec68b15115	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial @DISEASE$, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+cf821a0dd09273913d3e515495aed40783b807fc	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: @DISEASE$ (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+ae7004415567e23f2461195dc6c478b0d3de1ee7	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between @DISEASE$, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+27c3af8716acec8738ae8e2b541b36894ee8a432	The clinical presentation of @DISEASE$ includes @PHENOTYPICFEATURE$, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported.	has_symptom
+57679ab618ef2ef94d2ce6cab9304ec63cf5cb9b	The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes @DISEASE$, @PHENOTYPICFEATURE$, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported.	false
+309a2d1f1f128bc6b8414141c0132b0a64aa8a7a	The clinical presentation of @DISEASE$ includes intellectual disability, @PHENOTYPICFEATURE$, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported.	false
+ba8c2824e7f7bf05d72701937e66b8a6c082466f	The most common disorder of GABA metabolism is @DISEASE$, which has a broad phenotype of @PHENOTYPICFEATURE$, epilepsy, ataxia, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.	has_symptom
+afe31b3ebdbd999833df90ac115fa253346077cc	The most common disorder of GABA metabolism is @DISEASE$, which has a broad phenotype of mental retardation, epilepsy, @PHENOTYPICFEATURE$, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.	false
+d3b5a00e1dd51e431c83a088d35de7fdf8366ec0	The most common disorder of GABA metabolism is SSADH deficiency, which has a broad phenotype of @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.	false
+b489e704b18935f551b0aae671fbe7c92ed11b5e	In the more severe form (classic @DISEASE$) HPRT deficiency is characterized by choreoathetosis, @PHENOTYPICFEATURE$, mental retardation and compulsive self-mutilation behavior.	has_symptom
+aba0b13ca8fa0d5993935ac12bb97ed3c97b57b8	In the more severe form (classic Lesch-Nyhan syndrome) HPRT deficiency is characterized by choreoathetosis, @DISEASE$, @PHENOTYPICFEATURE$ and compulsive self-mutilation behavior.	false
+13a8de8ee0df19eb6a0084992e5204d0de9bad64	In the more severe form (classic @DISEASE$) HPRT deficiency is characterized by choreoathetosis, spasticity, @PHENOTYPICFEATURE$ and compulsive self-mutilation behavior.	false
+7e135be2ab74c7cad5924b4b7b452105ec26e7fd	In the more severe form (classic Lesch-Nyhan syndrome) @DISEASE$ is characterized by choreoathetosis, spasticity, @PHENOTYPICFEATURE$ and compulsive self-mutilation behavior.	false
+d5de220833ce739e22e89bd3a525a74143652a67	@DISEASE$ is a very rare X-linked recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$ resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia.	has_symptom
+3d77e6e3fbe1dc00d0c11220a7976c3e2fd8cf8d	@DISEASE$ is a very rare X-linked recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia.	false
+d52a578e5ba041c338b2454cc007eefa7b18f84b	Lesch-Nyhan syndrome is a very rare X-linked recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$ resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia.	false
+ab60361aff54b2b75d6a95cc907acac18502e9c7	Lesch-Nyhan syndrome is a very @DISEASE$ X-linked recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia.	false
+a88cd8ac450836f8303e806632f78150a3ddb9b2	Criteria of @DISEASE$ were restricted to the following: complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in hemolysate and fibroblast, @PHENOTYPICFEATURE$, choreoathetosis, mental retardation, self-mutilation, and occurrence in males.	has_symptom
+ed958b7db68768f79bb97751baa25714859b6a18	Criteria of @DISEASE$ were restricted to the following: complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in hemolysate and fibroblast, spasticity, choreoathetosis, @PHENOTYPICFEATURE$, self-mutilation, and occurrence in males.	false
+3d17135ec9e3aaa0ac3d33a3656adabb7f1c4fcf	Criteria of Lesch-Nyhan syndrome were restricted to the following: complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in hemolysate and fibroblast, @DISEASE$, choreoathetosis, @PHENOTYPICFEATURE$, self-mutilation, and occurrence in males.	false
+ab0132516b3cec445e24e369249510ca1e1b82fa	Patients with @DISEASE$ indicated no change or aggravation of choreoathetosis or @PHENOTYPICFEATURE$.	has_symptom
+037d6d8d63164824981b70830cea0abf1a01f5d1	@DISEASE$ is a rare, x-linked, recessive disorder of purine metabolism resulting in hyperuricemia, @PHENOTYPICFEATURE$, choreoathetosis, dystonia, self-injurious behavior, and aggression, without significant cognitive impairment.	has_symptom
+49224cfddf9d021762c28049896934ed28b7d45f	@DISEASE$ is a hereditary disorder of purine metabolism causing overproduction of uric acid and neurological problems including @PHENOTYPICFEATURE$, choreoathetosis, mental retardation, and compulsive self-mutilation.	has_symptom
+265afe3b89607713fef093458daba7a03c3b7c46	Lesch-Nyhan syndrome is a hereditary @DISEASE$ causing overproduction of uric acid and neurological problems including spasticity, choreoathetosis, @PHENOTYPICFEATURE$, and compulsive self-mutilation.	false
+a83557d2b51b7190c68fefeb97dd5353fbc36859	@DISEASE$ is a hereditary disorder of purine metabolism causing overproduction of uric acid and neurological problems including spasticity, choreoathetosis, @PHENOTYPICFEATURE$, and compulsive self-mutilation.	false
+1f79b9e07baa5c8bb159eb24978f2c1ddb6d8e8f	Lesch-Nyhan syndrome is a hereditary disorder of purine metabolism causing overproduction of uric acid and neurological problems including @DISEASE$, choreoathetosis, @PHENOTYPICFEATURE$, and compulsive self-mutilation.	false
+0fe0bec780a8cb7ac0da86e8733bd4ef560189ee	The @DISEASE$ is characterized clinically by choreoathetosis, @PHENOTYPICFEATURE$, selfmutilation, and mental and growth retardation.	has_symptom
+d8d6a23269679d283c20b0bcb6ccd266f2fbb776	The @DISEASE$ is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and @PHENOTYPICFEATURE$.	false
+e1d5cbb032a74d3eed1e86c0b88f0e8a52df9026	The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, @DISEASE$, selfmutilation, and mental and @PHENOTYPICFEATURE$.	false
+267fbef4213930758010f52a40e4e3030555be36	@DISEASE$ (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, @PHENOTYPICFEATURE$, mental retardation and self-mutilation.	has_symptom
+572e950ed8538d81cc45a3b27024e1c505dfe808	Lesch-Nyhan syndrome (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, @DISEASE$, @PHENOTYPICFEATURE$ and self-mutilation.	false
+17bce6e687644fe4fd2b0b871659787ac575db3a	@DISEASE$ (LN) is a severe X-linked disorder of males characterized by hyperuricaemia, choreoathetosis, spasticity, @PHENOTYPICFEATURE$ and self-mutilation.	false
+44c880b4f32c548ac2821bf60b7830d779ab11d2	The complete deficiency of HPRT is diagnostic of @DISEASE$ manifested by choreoathetosis, @PHENOTYPICFEATURE$, mental retardation, and self-injurious behavior.	has_symptom
+1997ddbb645bd35a4cb6d6ced7e8dbb1069f43e3	The complete deficiency of HPRT is diagnostic of @DISEASE$ manifested by choreoathetosis, spasticity, @PHENOTYPICFEATURE$, and self-injurious behavior.	false
+f107c99b0be9331b3a773d487efa51a0564a8e6e	The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, @DISEASE$, @PHENOTYPICFEATURE$, and self-injurious behavior.	false
+2a5f493ae7a3c026ef4ed8c497278afe023226bb	@DISEASE$ is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of mental retardation, @PHENOTYPICFEATURE$, choreoathetosis, and a compulsive form of self-mutilation.	has_symptom
+b96fd3a8d836c83076187c997a9132b9b69699b2	Lesch-Nyhan syndrome is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of @PHENOTYPICFEATURE$, @DISEASE$, choreoathetosis, and a compulsive form of self-mutilation.	false
+2a748f555e62007978b43523f1cc11fc670611f4	@DISEASE$ is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of @PHENOTYPICFEATURE$, spasticity, choreoathetosis, and a compulsive form of self-mutilation.	false
+1b912fab84a3a8b7488f7bd429c505530429e769	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or @DISEASE$) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	has_symptom
+0d30a8bb8d9eb0369dfd8e9492c87b6883173985	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the @DISEASE$-@PHENOTYPICFEATURE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+b6c54121cc47588c9bbf2b07e0172e3960733cc3	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-@PHENOTYPICFEATURE$ and distinctive speech (SED-BDS, also named Fantasy Island @DISEASE$ or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+3e490cfd994a0cbce2f94bde28dfbe78b57e591c	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-@PHENOTYPICFEATURE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or @DISEASE$) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+e19e318470df11225f8e789b730d76ad3582413c	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-@PHENOTYPICFEATURE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by @DISEASE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+ccc0f0536649ff4e3977fc7970bc3c15b1bdd40c	@PHENOTYPICFEATURE$ and hypertension are associated with aortic valve stenosis (@DISEASE$) in humans.	has_symptom
+ebe93db0924d1a4c478aaf310c09d03991082831	@DISEASE$ and hypertension are associated with @PHENOTYPICFEATURE$ (AVS) in humans.	false
+217579f5ac6c1be7cc31af56e1fb33c3cd47a77b	Hypercholesterolemia and hypertension are associated with @PHENOTYPICFEATURE$ (@DISEASE$) in humans.	false
+839c9f268838280673408a5ef44090172a657754	Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by @DISEASE$ (BCCs), maxillary keratocysts, and @PHENOTYPICFEATURE$.	has_symptom
+c9634fa4a7c30d6f97285f45a4e5ab40565ef482	@DISEASE$ (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and @PHENOTYPICFEATURE$.	has_symptom
+3e4c0659423feb0b7a49818182d6fb938d77c2a3	@DISEASE$ is an autosomal dominant disorder with variable penetration characterized primarily by keratocysts of the jaws, multiple basal cell carcinomas, skeletal abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+7e673e9fce3b6b24d44717fed4ea1345e95b2ac1	Gorlin-Goltz syndrome is an autosomal dominant disorder with variable penetration characterized primarily by keratocysts of the jaws, @DISEASE$, skeletal abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+a591630186c7da5adaad82d862e0e4df6b5cef9e	Gorlin-Goltz syndrome is an autosomal dominant disorder with variable penetration characterized primarily by keratocysts of the jaws, @DISEASE$, @PHENOTYPICFEATURE$ and intracranial calcifications.	false
+534660a0376897a7e39d3fab64185d6bbb3f2482	Gorlin-Goltz syndrome is an autosomal dominant disorder with variable penetration characterized primarily by keratocysts of the jaws, multiple basal cell carcinomas, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3f3bb162832b93d3c40362f411465d1fd1d5a42c	@DISEASE$ is an autosomal dominant disorder with variable penetration characterized primarily by keratocysts of the jaws, multiple basal cell carcinomas, @PHENOTYPICFEATURE$ and intracranial calcifications.	false
+b61f8f9cb2f4989cc663a45196188c8847d2b33d	Based on the clinical and typical radiological characteristics (falx @PHENOTYPICFEATURE$, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by @DISEASE$.	has_symptom
+5648a2d3e42b394ca1b34440a97b2f6792f94621	Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid @PHENOTYPICFEATURE$, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by @DISEASE$.	false
+0af4c27584af2e8fb2c3e221d9cef5fcc51cd054	Based on the clinical and typical radiological characteristics (falx @DISEASE$, bifid @PHENOTYPICFEATURE$, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome.	false
+7ed6d9a084e476f9c592067e44a98e7fa9341f3b	Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid @PHENOTYPICFEATURE$, and odontogenic cysts), the patient was diagnosed with metastatic @DISEASE$ accompanied by Gorlin syndrome.	false
+38a4faa30fca770d6e4ce0dfb993664fb977ac96	The major clinical features include @DISEASE$ (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic @PHENOTYPICFEATURE$.	has_symptom
+2c742e8fcae5bfc51ba7c2d416b2c653aed02f11	Gorlin syndrome is a rare autosomal dominant syndrome characterized by @DISEASE$, keratocystic odontogenic tumors (KOT) and falx @PHENOTYPICFEATURE$, which occur due to mutation in PTCH gene.	has_symptom
+175dd13a519c97bd4b087217d55cc652a507f3c1	@DISEASE$ is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx @PHENOTYPICFEATURE$, which occur due to mutation in PTCH gene.	has_symptom
+232bb09c6aa5d697c47520572390401f22c4abd4	Neurologic involvement in @DISEASE$ includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial neoplasms, and mental retardation.	has_symptom
+07f8ecc882e1ecc558d5d9c659ccd2a7e561bb0f	Neurologic involvement in @DISEASE$ includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and @PHENOTYPICFEATURE$.	false
+ace3b7461e43203a4945da36defd14e030de8a07	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @DISEASE$, congenital hydrocephalus, intracranial neoplasms, and @PHENOTYPICFEATURE$.	false
+96f84c203e64860e7c985042abab04a251ac0344	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @DISEASE$, congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+988afdd866cd318df0cf590b414918935b3d9fa7	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2fc848f589291eb3920541db3bb82a380a533eaa	Neurologic involvement in @DISEASE$ includes intracranial calcification, congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+56d9d6c291688945ec580c9b6db47c3a90bd764e	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, @DISEASE$, intracranial neoplasms, and @PHENOTYPICFEATURE$.	false
+b5e7ebabaed0fc0dbf6a008f31a2806d9447691d	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, @DISEASE$, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+e76e0092e7c741d4763a5ee45b81f09fdbff92d9	Gorlin-Goltz syndrome or @DISEASE$ is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @PHENOTYPICFEATURE$.	has_symptom
+b872774e3098ad8c7cda2ce1cd931583d94b8fb4	@DISEASE$ or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @PHENOTYPICFEATURE$.	has_symptom
+5a82f9a0a8b82775abee69f01b0ccf091989ebf7	@DISEASE$ or basal cell nevus syndrome is an @PHENOTYPICFEATURE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+73b97dadb09c9c9cdb6089276675bb616630f9a1	Gorlin-Goltz syndrome or basal cell nevus syndrome is an @PHENOTYPICFEATURE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple @DISEASE$, which may be accompanied by falx cerebri calcification.	false
+55cc41919c6aceed40bca1ae88ac69ea6081ed23	@DISEASE$ or basal cell nevus syndrome is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+d0289f4d561013d8ce2f9233178fe857ca31a31d	Gorlin-Goltz syndrome or @DISEASE$ is an @PHENOTYPICFEATURE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+f7782bf62cf28c48084b08e65085ab6bf6383821	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @DISEASE$.	false
+a795212995fd66b61794efc4cc9baba172351963	Gorlin-Goltz syndrome or basal cell nevus syndrome is an @PHENOTYPICFEATURE$ @DISEASE$ characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+a1ef7eabafe2d8c7b9e3aff59fd9bef846f69e74	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple @DISEASE$, which may be accompanied by falx cerebri calcification.	false
+bdb824f485460f1a9eadd6104c1728b94332c4e7	Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+11286bc5c1eebc104cfa0b339d4564f61713c0bc	Gorlin-Goltz syndrome or @DISEASE$ is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification.	false
+f16124f27360d7e56048cc61da4492463464a590	Gorlin-Goltz syndrome or basal cell nevus syndrome is an @PHENOTYPICFEATURE$ syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx @DISEASE$.	false
+faf584d2e4f7eb969ade17e10cd0be6e895033f2	Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by @DISEASE$, jaw cysts, palmar/plantar pits, spine and rib anomalies, and falx @PHENOTYPICFEATURE$.	has_symptom
+7bef6aac71f63cd9a9201d1714c428bce0f6aaa3	@DISEASE$ is an autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, spine and rib anomalies, and falx @PHENOTYPICFEATURE$.	has_symptom
+ef80982cbf9a7fbda66fe5f3d815f20207c2c113	The @DISEASE$ is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and @PHENOTYPICFEATURE$.	has_symptom
+95bfd0ee8644a042e23d0450dcd1f0b292fa711e	The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; @PHENOTYPICFEATURE$; and @DISEASE$.	false
+57b3cce65b575101570fecd343ae9d7cc0eed36e	The @DISEASE$ is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; @PHENOTYPICFEATURE$; and intracranial calcifications.	false
+d86c7efb73f304fc0cf90f736e4013a5f89969ce	Gorlin's syndrome (also known as basal cell nevus syndrome, @DISEASE$, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, @PHENOTYPICFEATURE$, keratocysts of the mandible, and unusual and striking skeletal abnormalities.	has_symptom
+608575d8eef0e87578ca2909f556c67c81164180	Gorlin's syndrome (also known as @DISEASE$, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, @PHENOTYPICFEATURE$, keratocysts of the mandible, and unusual and striking skeletal abnormalities.	has_symptom
+272fab5e6ca54da3abeec958e67a2bbb6d644170	Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, and @DISEASE$) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, @PHENOTYPICFEATURE$, keratocysts of the mandible, and unusual and striking skeletal abnormalities.	has_symptom
+e51ed06f5aa5ed31a7708328e16758009a679ea5	Gorlin's syndrome (also known as @DISEASE$, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking @PHENOTYPICFEATURE$.	false
+9bc18c9e76f0248bf5a3850894c080c325af2519	Gorlin's syndrome (also known as basal cell nevus syndrome, @DISEASE$, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking @PHENOTYPICFEATURE$.	false
+77d4367231c528be7982bb7334d79381ef252722	Gorlin's @DISEASE$ (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking @PHENOTYPICFEATURE$.	false
+2873a8c133d1c0c376f024fe66b3ce39b0c983ec	Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, @DISEASE$, keratocysts of the mandible, and unusual and striking @PHENOTYPICFEATURE$.	false
+e768cba9645f1c8a417ee79bf4200cc3cfd1f254	Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, and @DISEASE$) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking @PHENOTYPICFEATURE$.	false
+ca5e37f8f73955920ad2c020f98826efad27ca7f	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and @PHENOTYPICFEATURE$/regression.	has_symptom
+e094a3e52098835c6bfdc7aa5cf3f3c8de07b971	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and @PHENOTYPICFEATURE$/regression.	has_symptom
+34b5ad02736c9080287fac96239d5edc2c7f4be2	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor @PHENOTYPICFEATURE$ blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+684a9e3c8b44ad2acb14053868af7c894201b8f0	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits @PHENOTYPICFEATURE$-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+f76b1193c738caabc1bc9d9afca9bcf49ce547b1	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor @PHENOTYPICFEATURE$ blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, @DISEASE$, and behavioral abnormalities/regression.	false
+0dca6235bfc4ec4eaba5d626b4ebb045f5490e76	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks @PHENOTYPICFEATURE$-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+27750f22c1b0f707a7b157710345b25c4f1141d3	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among @PHENOTYPICFEATURE$, sleep disorders, and behavioral abnormalities/regression.	false
+bac595b89236a38d93f941168a22b4ed0ae180f9	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among @PHENOTYPICFEATURE$, sleep disorders, and behavioral abnormalities/regression.	false
+f1607becb57f259cdbb2727c396e0dcea1f8d6c8	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among @PHENOTYPICFEATURE$, @DISEASE$, and behavioral abnormalities/regression.	false
+349269281392e8737aedef392b42407cfd65150e	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks @PHENOTYPICFEATURE$-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, sleep disorders, and @DISEASE$/regression.	false
+8eae3f693c4206edcecd933e1a29b61bf45095e4	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic @PHENOTYPICFEATURE$ propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, sleep disorders, and @DISEASE$/regression.	false
+9700f9f8a374795c291733fbcc9ee9201aa4e845	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks @PHENOTYPICFEATURE$-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+8ee81a7c087b27b432507d12116995cf66bfd582	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic @PHENOTYPICFEATURE$ during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, @DISEASE$, and behavioral abnormalities/regression.	false
+954611c524dd8936999980f7442c8232e5e88da8	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits @PHENOTYPICFEATURE$-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+b829545760a3b49ab71157da8a30728fb31ff958	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic @PHENOTYPICFEATURE$ during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+6ac82655abd4935ebedd37b3371e36e84ca8079a	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and @PHENOTYPICFEATURE$, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+04716c854c545d72bea370c9cd4abfca46a9da8f	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic @PHENOTYPICFEATURE$ during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+d6922b72117fdcf50155cf2505af15e7c2448cb5	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and @PHENOTYPICFEATURE$, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, @DISEASE$, and behavioral abnormalities/regression.	false
+59543371e030eaba8ad0fd5492f0c82f7278fd51	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic @PHENOTYPICFEATURE$ propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+0fb3f63b5fe4022157d7c39fef9e4dab28c27e1c	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic @PHENOTYPICFEATURE$ propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, @DISEASE$, and behavioral abnormalities/regression.	false
+a18bf04fca361c5d624aff3b143feabccebc65c1	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among @PHENOTYPICFEATURE$, sleep disorders, and @DISEASE$/regression.	false
+c6d6c54401b45fee5cb1f22d02d0c14781bbc2f5	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks @PHENOTYPICFEATURE$-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, @DISEASE$, and behavioral abnormalities/regression.	false
+eab317671f042b756a3f71ac03cbcbe11a86756c	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor @PHENOTYPICFEATURE$ blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, sleep disorders, and @DISEASE$/regression.	false
+7c894ddb38b8c3359a6b295776c52751344576da	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits @PHENOTYPICFEATURE$-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, @DISEASE$, and behavioral abnormalities/regression.	false
+b783807adfea7d9f934879347500e6095bb7fbe6	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and @PHENOTYPICFEATURE$, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+2f63609003c051c717f61ae818e335c674a611d0	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and @PHENOTYPICFEATURE$, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, sleep disorders, and @DISEASE$/regression.	false
+7013e2b4395152310c7a776fcc58002e261c5326	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic @PHENOTYPICFEATURE$ during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, sleep disorders, and @DISEASE$/regression.	false
+7100260fb4b6f83ccfa9f96b0af5e33cc5933308	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits @PHENOTYPICFEATURE$-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (LKS) that suggest a link among seizures, sleep disorders, and @DISEASE$/regression.	false
+9f5b8f4c25b36f4c98ba511e83896a134e45fba2	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor @PHENOTYPICFEATURE$ blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+c1d84e20b52a6ca6aed5975202566c0f8fbb7443	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic @PHENOTYPICFEATURE$ propagation during NREM and drowsiness, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+dd1d73512683363ab6152e88c6e1f2d7ac169877	The association of cognitive and/or @PHENOTYPICFEATURE$, epileptic seizures and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (CSWS), Landau-Kleffner syndrome (@DISEASE$) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	has_symptom
+38f11d8109d14d72f831a4913d0bed2851703b10	The association of cognitive and/or @PHENOTYPICFEATURE$, epileptic seizures and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (CSWS), @DISEASE$ (LKS) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	has_symptom
+794aaf19f98698b1c24980073de01e282de0974f	The association of cognitive and/or behavioral disturbances, @PHENOTYPICFEATURE$ and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (CSWS), @DISEASE$ (LKS) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	false
+a52634d855a5a9a6c5d2e29c5a9c66152181962f	The association of cognitive and/or behavioral disturbances, @PHENOTYPICFEATURE$ and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (@DISEASE$), Landau-Kleffner syndrome (LKS) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	false
+01b0257c5e243034cbcd33e9a9c77b4d9c82dc3e	The association of cognitive and/or @DISEASE$, @PHENOTYPICFEATURE$ and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (CSWS), Landau-Kleffner syndrome (LKS) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	false
+943363ec72c16ec1bc7a27f762ef65522fe6b162	The association of cognitive and/or behavioral disturbances, @PHENOTYPICFEATURE$ and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (CSWS), Landau-Kleffner syndrome (@DISEASE$) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	false
+74bdb2b17c8ccd09679ef13059367566ceb3ddea	The association of cognitive and/or behavioral disturbances, @PHENOTYPICFEATURE$ and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: @DISEASE$ (CSWS), Landau-Kleffner syndrome (LKS) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	false
+b8ea1b8de81bc6c8156e7f58c9602dca74ae86d2	Landau-Kleffner syndrome (LKS) is an @DISEASE$ disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, @PHENOTYPICFEATURE$, and sometimes overt seizures.	has_symptom
+c979c081531789e573d3ccdc9a0e79e3054b9282	@DISEASE$ (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, @PHENOTYPICFEATURE$, and sometimes overt seizures.	has_symptom
+9bfb24359e679c8c4b9db68834f69cd3e9d3dbd6	Landau-Kleffner syndrome (@DISEASE$) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, @PHENOTYPICFEATURE$, and sometimes overt seizures.	has_symptom
+77100d7b0b3806441e45bb8514a0ecaeb4f18601	Landau-Kleffner syndrome (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, @DISEASE$, and sometimes overt @PHENOTYPICFEATURE$.	false
+20496d7a359224fc5397094d03454e187e59f635	Landau-Kleffner syndrome (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, @DISEASE$, and sometimes overt seizures.	false
+8fdbb521dd2c06795d20d46d6aeebd792859824d	Landau-Kleffner syndrome (LKS) is an @DISEASE$ disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, behavioral disturbances, and sometimes overt seizures.	false
+efebe3dfacf1e153369a5216da1f22c56bb04e0b	@DISEASE$ (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, behavioral disturbances, and sometimes overt @PHENOTYPICFEATURE$.	false
+9e0e9cfa4389d62f9b48e0e27d06dc561b3a3a57	Landau-Kleffner syndrome (@DISEASE$) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, behavioral disturbances, and sometimes overt seizures.	false
+ce48dfe9267d186a427b448816eb37e99dcefb49	Landau-Kleffner syndrome (LKS) is an @DISEASE$ disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, behavioral disturbances, and sometimes overt @PHENOTYPICFEATURE$.	false
+4355a94311e97320096941dffe9b18abc7a44cd5	@DISEASE$ (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, behavioral disturbances, and sometimes overt seizures.	false
+ef651ff957bff39a3607a65f77e016764a8f1a86	Landau-Kleffner syndrome (@DISEASE$) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory agnosia, abnormal epileptiform activity, behavioral disturbances, and sometimes overt @PHENOTYPICFEATURE$.	false
+b32b3bca42fd4787296dc0edf808dc5043b2a123	At necropsy, fetal examination showed characteristic @PHENOTYPICFEATURE$ associated with congenital malformations, confirming full @DISEASE$ in both fetuses.	has_symptom
+ac29824be25a61be5ebedbe621e0c470170b34e2	@DISEASE$, is a dysmorphic disorder characterised by aplasia/hypoplasia of thymus and parathyroid glands in addition to aortic arch anamolies and @PHENOTYPICFEATURE$.	has_symptom
+855e6a097ac661c9661069ac24132694bfc81d86	Monozygotic male twins with @DISEASE$ had @PHENOTYPICFEATURE$, cardiovascular abnormalities, hypocalcemia, and immunodeficiency; however, they showed differences in several aspects of this developmental complex.	has_symptom
+6fe1a255fe83864e11c769869861f4ab6630fbd9	Monozygotic male twins with DiGeorge's syndrome had facial dysmorphism, @PHENOTYPICFEATURE$, hypocalcemia, and @DISEASE$; however, they showed differences in several aspects of this developmental complex.	false
+554d744b60de14ad97ad6280473a5d4f50be669a	Monozygotic male twins with @DISEASE$ had facial dysmorphism, @PHENOTYPICFEATURE$, hypocalcemia, and immunodeficiency; however, they showed differences in several aspects of this developmental complex.	false
+d6c0bb57c24021b989e1d7ec9a17272ae0884eb7	Monozygotic male twins with DiGeorge's syndrome had @DISEASE$, @PHENOTYPICFEATURE$, hypocalcemia, and immunodeficiency; however, they showed differences in several aspects of this developmental complex.	false
+07552f70bc324765ac23dbf5b63910c013e5aece	Based on nasal regurgitation and @PHENOTYPICFEATURE$, the possibility of @DISEASE$ was suspected and was confirmed by fluorescence in situ hybridization.	has_symptom
+4359da4cc310b02f9797ab9d876950609f125a3a	@DISEASE$ is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical @PHENOTYPICFEATURE$.	has_symptom
+6cacfce95c6f4ccf75434e4a55a2eb6b2951702f	DiGeorge syndrome (@DISEASE$) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+d92950f3d8adc0a32f17c9926fbf1c766694c2f0	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+4f807d809e2084e341bf13dda7938f408bfc6a1f	DiGeorge syndrome (@DISEASE$) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+fb3052f233e7817330ee1973794583b303cc029c	DiGeorge syndrome (DGS) is a developmental defect characterized by cardiac defects, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1ddf6107844f4d0a7e8c5b77991c32d3fb9ffe49	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+f3111831903dd64e67e5f81d4f8f455b21703646	@DISEASE$ (DGS) is a developmental defect which associates hypo- or aplasia of the thymus and parathyroids, @PHENOTYPICFEATURE$ and conotruncal cardiac malformations.	has_symptom
+67ee4043332b9f6167f5575c3c2d084add76e6fd	DiGeorge syndrome (@DISEASE$) is a developmental defect which associates hypo- or aplasia of the thymus and parathyroids, @PHENOTYPICFEATURE$ and conotruncal cardiac malformations.	has_symptom
+c2205167510e6873ea2d3b27882c6db3759601f2	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability and primary hypoparathyroidism.	has_symptom
+3583dc3386335591f39746b3644f1d6d91d030ef	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	false
+3a1103d2fd49487d6c8208bf32e1b371854c59c1	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	false
+78a24c37ad68dc3a61191b2c858331717dafca75	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	false
+0ab2ef111abf1e276fd1b9fa11d4f1e848d6310f	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$ and primary @DISEASE$.	false
+156a08eb38d42127535807ebc1bb4adc520e6598	When 13 Korean patients with DGS-type congenital heart disease were analyzed with this probe, 9 turned out to have a deletion at this locus, and all of them except one exhibited a typical @PHENOTYPICFEATURE$ associated @DISEASE$.	has_symptom
+40816f069fe8652dd8f9a0a7895ba53ad3b0b677	When 13 Korean patients with @DISEASE$-type congenital heart disease were analyzed with this probe, 9 turned out to have a deletion at this locus, and all of them except one exhibited a typical @PHENOTYPICFEATURE$ associated DGS.	has_symptom
+4a42013b9fc1ff6cdd57b9c7809ae5009b2efa3f	The patient has some features which have been reported in individuals with @DISEASE$/VCFS, including: @PHENOTYPICFEATURE$, mental retardation, long slender digits and genital anomalies.	has_symptom
+3c3d4030834f370c6b9922b4b432eb55362df300	The patient has some features which have been reported in individuals with DGS/VCFS, including: @DISEASE$, @PHENOTYPICFEATURE$, long slender digits and genital anomalies.	false
+0e5478130bcd9ca9a922a16a50a87816638cc92c	The patient has some features which have been reported in individuals with @DISEASE$/VCFS, including: facial dysmorphia, mental retardation, long slender digits and @PHENOTYPICFEATURE$.	false
+77ab7ef671887a0cd7334eebb2ecb3f3249e409d	The patient has some features which have been reported in individuals with DGS/VCFS, including: @DISEASE$, mental retardation, long slender digits and @PHENOTYPICFEATURE$.	false
+4d898835b98b815048056eecfdf0c0efe96d507b	The patient has some features which have been reported in individuals with @DISEASE$/VCFS, including: facial dysmorphia, @PHENOTYPICFEATURE$, long slender digits and genital anomalies.	false
+2cdf4c5c4df011384ce3e7ba007fd15665dd2f21	@DISEASE$ and spontaneous @PHENOTYPICFEATURE$.	has_symptom
+71b421e7c0fc74c795fd36d0ebbd2a5228eec2ed	Mutations in the lamin A/C gene (LMNA) may cause @DISEASE$ (dilated cardiomyopathy) characterized by early onset atrio-ventricular block (A-V block) before the manifestation of dilated cardiomyopathy and high risk of sudden death due to @PHENOTYPICFEATURE$, which is very similar to the phenotype of gap junction related heart disease.	has_symptom
+a6c3d3d0a2d7fade8e186d674bc4df76015b55ff	Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	has_symptom
+00fc772fb588e9517319973ebfa3658898169be2	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset @PHENOTYPICFEATURE$, psychomotor deterioration, and seizures.	has_symptom
+95c0ac49661c0dc39bbcef18ec374a325c916648	The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset @DISEASE$, psychomotor deterioration, and @PHENOTYPICFEATURE$.	false
+4d8b7562e4fafb52af61161cd4d5d7cc2034ae73	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset visual loss, psychomotor deterioration, and @PHENOTYPICFEATURE$.	false
+ae6d01c9a3c775488faf58a0f1b1da535a6914ed	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is a heritable disorder of GABA degradation characterized by @PHENOTYPICFEATURE$, psychomotor retardation and seizures.	has_symptom
+6bf23e103e8635f0c258dcf0b5fbe674f0ac8364	Succinic semialdehyde dehydrogenase (SSADH) deficiency is a heritable disorder of GABA degradation characterized by @DISEASE$, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+0a97a8e34dd52dbbc1568141adfad8ab666c064e	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is a heritable disorder of GABA degradation characterized by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+78cf08d8b9dfd59d60473fad2208b6039b491250	@DISEASE$ is associated with developmental delay, prominent language deficits, hypotonia, @PHENOTYPICFEATURE$, hyporeflexia, and seizures.	has_symptom
+803c7f79aa77375983d29f5388e599c8a313c79d	@DISEASE$ is associated with developmental delay, prominent language deficits, hypotonia, ataxia, hyporeflexia, and @PHENOTYPICFEATURE$.	false
+bf8d40090a5f939f4c74977d279760b44051a38c	SSADH deficiency is associated with developmental delay, prominent language deficits, hypotonia, @DISEASE$, hyporeflexia, and @PHENOTYPICFEATURE$.	false
+d9b5ca9ecb56d0c918d1dacf72d3efb867571d8e	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an autosomal-recessively inherited disorder of gamma-aminobutyrate (GABA) catabolism characterized by @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+3342106c1493d6ad15536f2ab53cd46a62e523fa	Human @DISEASE$, an autosomal recessive disorder of ?-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of @PHENOTYPICFEATURE$ and seizures.	has_symptom
+bf3d1111855117c63a97a53891aa008311e180f4	Human @DISEASE$, an autosomal recessive disorder of ?-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of ataxia and @PHENOTYPICFEATURE$.	false
+7b6b9d31975c3c292d3bb423f7b2dcc7240009e9	Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of ?-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+121bee3e0578c6bc33d45a6da9cf1398458086a0	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, @PHENOTYPICFEATURE$, and epileptic seizures.	has_symptom
+2d762bf7879edc7e67acdc988ee9dc4b7b29b566	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, ataxia, and @PHENOTYPICFEATURE$.	false
+49df5a3552224eeb5f67247c4d45047d4696f5b8	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+745f6a730c823c696dc2a7484fa32385161a54e3	@DISEASE$ in a patient without @PHENOTYPICFEATURE$ or convulsions.	has_symptom
+8cf0940ec7c377df5d7a143501606e5eb9b36713	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an inborn error of GABA metabolism characterized clinically by @PHENOTYPICFEATURE$, psychomotor retardation and seizures.	has_symptom
+9a9083b6f355e55df3249018ac066f7e3ab2c916	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+cb8a1f9795a42d3597d4fdb1fd44a2e0b2e58d2c	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn error of GABA metabolism characterized clinically by @DISEASE$, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+8fd151bb8bc6108dc46552040bb882ba184ed0f1	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an inborn error of GABA metabolism characterized clinically by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+309a2d1f1f128bc6b8414141c0132b0a64aa8a7a	The clinical presentation of @DISEASE$ includes intellectual disability, @PHENOTYPICFEATURE$, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported.	has_symptom
+25c0293c483c138cf28746db055a6b891d5f2245	The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes @PHENOTYPICFEATURE$, @DISEASE$, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported.	false
+27c3af8716acec8738ae8e2b541b36894ee8a432	The clinical presentation of @DISEASE$ includes @PHENOTYPICFEATURE$, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported.	false
+830538826f50bb8ac7502d6f51dc12f369a0f39d	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency, a disorder of GABA degradation with subsequent elevations in brain GABA and GHB, is a neurometabolic disorder with intellectual disability, epilepsy, hypotonia, @PHENOTYPICFEATURE$, sleep disorders, and psychiatric disturbances.	has_symptom
+afe31b3ebdbd999833df90ac115fa253346077cc	The most common disorder of GABA metabolism is @DISEASE$, which has a broad phenotype of mental retardation, epilepsy, @PHENOTYPICFEATURE$, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.	has_symptom
+8a6428837b9de0b1c3dfb51e3a39281cc6c71bf8	The most common disorder of GABA metabolism is SSADH deficiency, which has a broad phenotype of @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.	false
+ba8c2824e7f7bf05d72701937e66b8a6c082466f	The most common disorder of GABA metabolism is @DISEASE$, which has a broad phenotype of @PHENOTYPICFEATURE$, epilepsy, ataxia, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.	false
+7d427feb356c79f7d6c6e3990627bc22984fc281	Two unrelated boys with congenital adrenal hypoplasia and @DISEASE$ were found to have similar features, including characteristic facies, testicular abnormalities, @PHENOTYPICFEATURE$, psychomotor retardation, and muscular dystrophy.	has_symptom
+51c5ab671eb2e33e614193dddf2a1fc3d3db100c	Clarifying the relation between LCA and associated neurological abnormalities such as autism, @PHENOTYPICFEATURE$, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	has_symptom
+76e8c92113cbbdd5a687159a788289b345f95c35	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, @DISEASE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+1a7fa5a5facaf4fe355550cbc0c6f3e9ffcb9fd4	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+e5b351aa565e59ee85b7d19fac4536d097cdb86a	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+cf68146e731bb55b00aca496fc1835809aadfb14	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, @DISEASE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+503fa1c7944b230fa5fb6b00ea73fcc02bf99345	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	false
+6f172068f92815bc9dc33111caf4a792a4d1a9d4	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+b2ee2ab0fbdc6d72668a1150a6f180676a491c91	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+22f725bc76bd186148d9eb4cd7cfa71bfcdde7b4	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+c50d4a59f71db9bd684e133d6542f5d01875d3ca	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+f6e60b3c5836c43dcd81d899242704df8b43c051	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	false
+d870122bff04a15649c67beaf4e90f3f5eb68243	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+f7ad5d6d835a9fae9f9493a49c174995774692fc	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+8114e3c4f5ab2ecc66652c120705fd34de1dc5d2	Hypoparathyroidism and @DISEASE$ are the most common causes of pathological @PHENOTYPICFEATURE$.	has_symptom
+2a507c3087b84398798fa63c29c14b4685278db7	@PHENOTYPICFEATURE$ and @DISEASE$ are the most common causes of pathological basal ganglia calcification.	false
+19599f39c5b829496e8b9a2d0e5d6d68a39e1efd	@PHENOTYPICFEATURE$ and pseudohypoparathyroidism are the most common causes of pathological @DISEASE$.	false
+8114e3c4f5ab2ecc66652c120705fd34de1dc5d2	Hypoparathyroidism and @DISEASE$ are the most common causes of pathological @PHENOTYPICFEATURE$.	has_symptom
+2a507c3087b84398798fa63c29c14b4685278db7	@PHENOTYPICFEATURE$ and @DISEASE$ are the most common causes of pathological basal ganglia calcification.	false
+19599f39c5b829496e8b9a2d0e5d6d68a39e1efd	@PHENOTYPICFEATURE$ and pseudohypoparathyroidism are the most common causes of pathological @DISEASE$.	false
+8114e3c4f5ab2ecc66652c120705fd34de1dc5d2	Hypoparathyroidism and @DISEASE$ are the most common causes of pathological @PHENOTYPICFEATURE$.	has_symptom
+2a507c3087b84398798fa63c29c14b4685278db7	@PHENOTYPICFEATURE$ and @DISEASE$ are the most common causes of pathological basal ganglia calcification.	false
+19599f39c5b829496e8b9a2d0e5d6d68a39e1efd	@PHENOTYPICFEATURE$ and pseudohypoparathyroidism are the most common causes of pathological @DISEASE$.	false
+c9ce8d240099a6c058e20e4c52c4d3422d0cd7f4	This report describes an atypical case of a 39-year-old woman who presented with proximal upper @PHENOTYPICFEATURE$ in the third trimester of pregnancy and was initially diagnosed with seronegative @DISEASE$.	has_symptom
+65d0d354401f1242502de6d3fd3fa875a9f9269f	This report describes an atypical case of a 39-year-old woman who presented with @PHENOTYPICFEATURE$ upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative @DISEASE$.	false
+ee2895bbfb7ad14f4f8e8952b1d8a4f50e630473	This report describes an atypical case of a 39-year-old woman who presented with @PHENOTYPICFEATURE$ upper @DISEASE$ in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis.	false
+1e9183bf5f583dbd40791f1633f0e8792eb1908f	Previous diagnoses in some of these families have included Jackson-Weiss, Saethre-Chotzen, and @DISEASE$, as well as Adelaide-type craniosynostosis and @PHENOTYPICFEATURE$-craniosynostosis syndrome [Ad?s et al. (1994): Am J Med Genet 51:121-130; von Gernet et al. (1996): Am J Med Genet 63:177-184; Reardon et al. (1997): J Med Genet 34:632-636; Bellus et al. (1996): Nat Genet 14:174-176; Hollaway et al. (1995): Hum Mol Genet 4:681-683; Glass et al. (1994): Clin Dysmorphol 3:215-223].	has_symptom
+937ae804258f013e8a034a207ad813aad88b2b0a	Early neonatal research linked high levels of supplemental oxygen with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+321b48c619d184a470d7c0d85fed87782b035348	Ocular neovascularization is the primary cause of @PHENOTYPICFEATURE$ in a wide range of prevalent ocular diseases including proliferative diabetic retinopathy, exudative age-related macular degeneration, and @DISEASE$, among others.	has_symptom
+e5c9c73622fed6f0e98eeea6fd6aa6c6083212e4	@DISEASE$ (ROP) causes 100,000 new cases of childhood @PHENOTYPICFEATURE$ each year.	has_symptom
+06fc29314e0d978671710ce339ccaae217049935	@DISEASE$ (ROP) causes childhood @PHENOTYPICFEATURE$ globally in prematurely born infants.	has_symptom
+aa710edef37b4d8b761ebd4dffd8ab3d936a5657	@PHENOTYPICFEATURE$ in a boy with @DISEASE$ treated with vigabatrin (gamma-vinyl-GABA).	has_symptom
+3f169ea71a3d6b4cefe76701899ea76f9cb6b1a6	Eight years later, her sister with a neurodevelopmental disorder presented at 13 years of age with @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$.	has_symptom
+0a97a8e34dd52dbbc1568141adfad8ab666c064e	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is a heritable disorder of GABA degradation characterized by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	has_symptom
+ae6d01c9a3c775488faf58a0f1b1da535a6914ed	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is a heritable disorder of GABA degradation characterized by @PHENOTYPICFEATURE$, psychomotor retardation and seizures.	false
+6c551d3db4aaa357778b4002f1ab81142e5b50ae	Succinic semialdehyde dehydrogenase (SSADH) deficiency is a heritable disorder of GABA degradation characterized by @PHENOTYPICFEATURE$, psychomotor retardation and @DISEASE$.	false
+803c7f79aa77375983d29f5388e599c8a313c79d	@DISEASE$ is associated with developmental delay, prominent language deficits, hypotonia, ataxia, hyporeflexia, and @PHENOTYPICFEATURE$.	has_symptom
+b2950a84ec77a1062a4518c7abd404a0772af5a4	SSADH deficiency is associated with developmental delay, prominent language deficits, hypotonia, @PHENOTYPICFEATURE$, hyporeflexia, and @DISEASE$.	false
+78cf08d8b9dfd59d60473fad2208b6039b491250	@DISEASE$ is associated with developmental delay, prominent language deficits, hypotonia, @PHENOTYPICFEATURE$, hyporeflexia, and seizures.	false
+e0f941b92c14554c04cb1ce6af0dfd91dbee3fbb	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is a neurometabolic disorder characterized by excessive GABA levels and @PHENOTYPICFEATURE$.	has_symptom
+9eae2a4cd6aaab18eedf5bfd8281b9cb23ef0fb7	The excessive cortical GABAergic neurotransmission may participate in the @PHENOTYPICFEATURE$ activity in @DISEASE$.	has_symptom
+7017b9114866f44208b1a3e4a4e5d9a4c091cf1c	GHB is known to induce absence-like @PHENOTYPICFEATURE$ and absence seizures have been reported to occur in children with @DISEASE$.	has_symptom
+fca1e5afb15e3158bc5ab44f422539d86fd6ff59	GHB is known to induce absence-like seizures and @PHENOTYPICFEATURE$ have been reported to occur in children with @DISEASE$.	false
+a694f9a3ecf3e15dc7131998ea80a01da879699c	GHB is known to induce absence-like @DISEASE$ and @PHENOTYPICFEATURE$ have been reported to occur in children with SSADH deficiency.	false
+56ea5cd3126cca878c4a4a479cdc1b031a4dd0b2	The @PHENOTYPICFEATURE$ phenotype in the SSADH(-/-) recapitulates that observed in human @DISEASE$.	has_symptom
+2d762bf7879edc7e67acdc988ee9dc4b7b29b566	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, ataxia, and @PHENOTYPICFEATURE$.	has_symptom
+9188909b6ff37b3225e8a39371ec025dbd2daf02	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+121bee3e0578c6bc33d45a6da9cf1398458086a0	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency is an inherited disorder in which patients display neurodevelopmental retardation, @PHENOTYPICFEATURE$, and epileptic seizures.	false
+64b377a06dd8b815a841a767e6da8d11c006f3d9	The epilepsy that occurs in @DISEASE$ has a @PHENOTYPICFEATURE$ phenotype similar to that occurring in the SSADH(-/-) mouse.	has_symptom
+f32855efcaa8b49835d7621b36481c943c55047f	@DISEASE$ (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$, knuckle pads, and leukonychia, which show considerable phenotypic variability.	has_symptom
+f053433912cbdf927d0473a3036723a95bfe3d0e	@DISEASE$ (BPS) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability.	false
+d7f02df69e7426ec221b9cb6cdd44534a9680805	Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, knuckle pads, and leukonychia, which show considerable phenotypic variability.	false
+31e54dbed40a6267f2a1c6d83b363af7cf5e0108	Type 2 @DISEASE$ is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatsch?del deformity), prominent ptosis, thumb and first toe abnormalities, variable @PHENOTYPICFEATURE$, and mutated genes for type 1 or 2 fibroblast growth factor receptor.	has_symptom
+41fe0ac82c2086916889942395ba81389ab458ee	Type 2 Pfeiffer syndrome is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatsch?del deformity), prominent @PHENOTYPICFEATURE$, thumb and first toe abnormalities, variable @DISEASE$, and mutated genes for type 1 or 2 fibroblast growth factor receptor.	false
+ebc2f9c33a1a3fa86e6e307698f5028a83fd6b3f	Type 2 @DISEASE$ is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatsch?del deformity), prominent @PHENOTYPICFEATURE$, thumb and first toe abnormalities, variable syndactyly, and mutated genes for type 1 or 2 fibroblast growth factor receptor.	false
+1384ed2e19104f1237610cc8abc35f030b701309	@DISEASE$ is a rare genetic disorder with combination of bicoronal craniosynostosis, broad thumbs, broad great toes, ankylosis of elbow and partial variable @PHENOTYPICFEATURE$ of the hands and feet.	has_symptom
+905fbe44900a111b0067e515ddbb2cd699fd0237	@DISEASE$ (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable @PHENOTYPICFEATURE$.	has_symptom
+12c69538a3de2ad4d9b2b6071707a87aff5d19f6	@DISEASE$ presents similarly, though with progressive spinocerebellar @PHENOTYPICFEATURE$ and spastic paraplegia and without trichomegaly.	has_symptom
+aab0aa9bf4c442443d4ef2ceb6d50c68df698f2b	The features of @DISEASE$ vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @PHENOTYPICFEATURE$ and spastic paraplegia.	has_symptom
+58a4544069c2f2c870956792fa86231553a8fba8	The features of @DISEASE$ vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia.	false
+9930cc5c5494833fef6bf59acad1beeed23f2bf1	The features of Laurence-Moon syndrome vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, @DISEASE$ and spastic paraplegia.	false
+0f612f0e4c50ae405fa18bb0de5986f3d6e6e9d4	The features of Laurence-Moon syndrome vary widely from @PHENOTYPICFEATURE$, hypogenitalism to @DISEASE$; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia.	false
+8b125dce03a4c433a606edd6ce0444e6a77aab2e	The features of Laurence-Moon syndrome vary widely from @PHENOTYPICFEATURE$, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic @DISEASE$.	false
+9665b672c5950d15165ca62c42caa72e583608ac	@DISEASE$ is an extremely rare congenital disorder characterized by craniofacial malformations, syndactyly, cardiac defects and @PHENOTYPICFEATURE$.	has_symptom
+818d6057bee47b49ee88c5b5f7ec0e78c252a6db	@DISEASE$ is an extremely rare congenital disorder characterized by craniofacial malformations, @PHENOTYPICFEATURE$, cardiac defects and obesity.	false
+23701fc13c62951be175b960ceeba8f859985209	Carpenter syndrome is an extremely rare congenital disorder characterized by craniofacial malformations, @PHENOTYPICFEATURE$, cardiac defects and @DISEASE$.	false
+1586a06f95f33218557e6c9c1d2eb75edea42079	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	has_symptom
+d5730c9cd463a2bd84bc762eea14bddf1e4866cf	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, @DISEASE$, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+bbd236345ea6cbc5d7f23d60b6880ff5e0567b54	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, @DISEASE$, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+a3c783cffeaea3f5f00ac492453ab6e374aa7f18	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+36b07c7f2133fd80ba9e6abf2e3c8d4ee0278195	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, @PHENOTYPICFEATURE$, bony abnormalities and umbilical hernia.	false
+bfdec13b39d3786652be869d779fd2e4a7e4ce3a	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, bony abnormalities and umbilical hernia.	false
+bc9c82d000009a59c8e0070ed008511511431d57	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, @DISEASE$, congenital heart disease, cryptorchidism, @PHENOTYPICFEATURE$, bony abnormalities and umbilical hernia.	false
+c70f8a381069cf2075d521b70d4977dee71536d4	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, @DISEASE$, cryptorchidism, @PHENOTYPICFEATURE$, bony abnormalities and umbilical hernia.	false
+de2af468943fc7ec0cc9ec01f31f0d2bc24f7c62	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, @DISEASE$, hypogenitalism, bony abnormalities and umbilical hernia.	false
+a1e5d58cece8883380367f3be49cf7b74a54b3f1	@DISEASE$, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, @PHENOTYPICFEATURE$, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases.	has_symptom
+d5fdff4612dbae744f8400abbbdef6f11e3b4da3	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	has_symptom
+db8c6f315f84b01a85b0e361df5813d63462c79c	Acrocephalopolysyndactyly or Carpenter syndrome consists of @DISEASE$, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	false
+26e1f0bccaa65ff5de66b130c6de64f51fd50110	Acrocephalopolysyndactyly or Carpenter syndrome consists of @DISEASE$, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+0f138937c547d1e353f2f61704277a0ffc3214da	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	false
+84cf54c709df4fc096b5a0d9f8be5fb58eb0012e	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+5de9ac1bd11ecdac0c34a199e7e37a71790159f7	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, @DISEASE$, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	false
+6b90f74f2cf98eb8b3a3550ca713d48749e3974f	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, and umbilical hernia.	false
+daa013b04cc930158d6fff440236ff55ca7b3c43	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, and umbilical hernia.	false
+a7ff2b7e3643b9a31a8aaf7b9ada1e34fa8bd872	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+04829c9df2edd90d325d9f64fd8f2c73e1c62920	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, @DISEASE$, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	false
+90291a483a0dd01ddeed468c05f285347247eec2	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, @DISEASE$, hypogenitalism, obesity, and umbilical hernia.	false
+8c6097972e1042836568a6b2c7e3a0dfb51658ef	@DISEASE$ is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, @PHENOTYPICFEATURE$, and cardiac defects.	has_symptom
+8c0af8b64e042e2302e5b17b401f30f07fba9cc9	Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder @DISEASE$ (CS), which is characterized by craniofacial malformations, polysyndactyly, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+0a1dce432c4bf87e10c5a674edb59460116b4924	Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder @DISEASE$ (CS), which is characterized by craniofacial malformations, polysyndactyly, obesity and @PHENOTYPICFEATURE$.	false
+c2aa0a6ff43c8fe7223e675488062230b64360c7	Interestingly, RAB23 null allele homozygosity in humans is not lethal, but instead causes the developmental disorder Carpenter's syndrome (CS), which is characterized by craniofacial malformations, polysyndactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	has_symptom
+b0be8f5df9cb498a5b6b7783c6d2fc9b18edd364	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	has_symptom
+fea7a10080cfad9fb1b80c9c35891397dc9dc88f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+dac7489a843d0ca24db83f35affb5093efcfc6a5	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+19b4a2f9ee76becd64b80dcba0f63b2a3b4593f3	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+adf8d1ac558ae39154cf82bbb0ee7c29f076ed31	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+336ef8a443129b42a61ab2d64597aadaeacdebc9	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+a6cffcddf838bb176e660c6c6d21b45738706759	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+da68ecc327f7465db1554b3ef3641bb63d8ef119	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+1b9a2f98d5f34dd4afd813cbb8f513ed90fe5850	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+4726d63422cafa846d04bbf2cb395d31e11c3622	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+d8b9d4e0cc146273a59f8a399ffeb0ed38baf3b4	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+eb4bd9742b052fb3e6f78a212fb2b2e68e4d8c7b	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @DISEASE$, umbilical hernia and bony abnormalities.	false
+9f5efe846101119c3c92fbb510a6c0a2ce8bb59b	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5354c1f79b13a515c0820e2a370f663fccbab2ad	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, @DISEASE$, umbilical hernia and bony abnormalities.	false
+974549c7f14fbc651c6c39008a2a966ef34bc73c	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5c764caefaf508a2f457594bba319c22bd8be6d9	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+53ac29dbe5d44eff511841b1787fd8ae202b726b	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, @DISEASE$, umbilical hernia and bony abnormalities.	false
+1777f06a62037569202a11c21777720937c5ea6e	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @DISEASE$, umbilical hernia and bony abnormalities.	false
+b9b607925f3e71545e187ed56b8a527fd90b75aa	RAB23 mutations in @DISEASE$ imply an unexpected role for hedgehog signaling in cranial-suture development and @PHENOTYPICFEATURE$.	has_symptom
+de4aeda4df69279b16e6c589ad52c32a278cf164	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	has_symptom
+811b5705d079c9ae86a1fb736fbb4e7000c60255	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+f157aff112c567dacb8cfa6e2751f6832a2fb048	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+55b9026ab9a23e7f95659aa742dda09ee0d61bff	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+8c512e507d6a4e00ce72292413844bb83ec63fa5	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+499769ec8ae00955c1086f6c9cd067827a79a1c3	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @DISEASE$, umbilical hernia and mental retardation.	false
+d37cc1211b5815e4e68b03ccbb8416a678c1c714	@DISEASE$ consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+56b778c36454e5284ed52600ccfcc74a753cedc7	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+96b5b76e569141408a029b2917723ce02ecf2b9c	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+6736453155a810fadcfb7dd8bbeb5d4904f182d7	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, @DISEASE$, umbilical hernia and mental retardation.	false
+7e88c173a7a497ad18c4885baa77711412e8819a	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @DISEASE$, umbilical hernia and @PHENOTYPICFEATURE$.	false
+2d341d0597bd63e830832005c85de6626f72b54e	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+1998bd7ebc3b8c31a967283b58403518f90cbe78	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+0c8ca1f8e04bb5b39c4025995dc2c013b85d8527	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+4e1ad9db846b814fefc446b9e97a40e40fc6ce71	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+8b18f0429917349a8c489adaafa0655ed2dad78b	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+93edb6eaff2330fa45e044b28b6f37a29356f9f5	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+d0e17586316677438b6912a2dd9aac494d3fdaef	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	has_symptom
+aba87a6fd1434f39e3c52983350abf38323ddfc7	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+dfb99a8cecc2e73b07ad41c5a9ddb7638cd0a1b4	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, @DISEASE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+b9c73915612849cc092a234c174b6189e2bd5657	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+1da5c675ddf414f62aaa31fd6b22e6dabc315851	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+4afbe64566f10febab36cd178a686559f97bd2b8	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+744331d0af9ec35551e21945c9fa405884afdacd	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+d3022be9835c318e2b0e9801d56198259c9dba8b	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+6c470d4b5324f6939164d982028fc9f43052444f	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, @DISEASE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+792228053059b9f1811361f20104f938a847b857	@DISEASE$ (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+c96a9727b8a860594675e4b8c256884df5df4ee6	Carpenter syndrome (Acrocephalopolysyndactyly type II) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, @PHENOTYPICFEATURE$, preaxial polydactyly, obesity, @DISEASE$, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+75a381fb7fc6f4ba27cf7b992279c3c091ec8df5	@DISEASE$ (SCA7) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and blindness.	has_symptom
+3abd79c388b304b20ac685c2d5314db823f898e4	@DISEASE$ (SCA7) is a neurodegenerative disorder characterized by progressive cerebellar ataxia associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and @PHENOTYPICFEATURE$.	false
+f3a8a6381940f4b40aa76b127753bad6d9670176	Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative @DISEASE$ characterized by progressive cerebellar ataxia associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and @PHENOTYPICFEATURE$.	false
+cf576921133bf194bfa6cb554a0b3e70b990a0d8	Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by progressive cerebellar ataxia associated with @DISEASE$ that leads, in the majority of patients, to loss of autonomy and @PHENOTYPICFEATURE$.	false
+f6dc3650e0032d12a4f219a7e21b80696c4a6e0b	Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by @DISEASE$ associated with macular degeneration that leads, in the majority of patients, to loss of autonomy and @PHENOTYPICFEATURE$.	false
+4c4719e4bd512d14738f53019fe7238166fb3ba7	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin @PHENOTYPICFEATURE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	has_symptom
+8bbb1d9fdd534512be253beb427a094c11e95aa9	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @PHENOTYPICFEATURE$, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+cdd89a4b89710c5447b59570d213c7ee9d548187	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+05b72a3958f42ff30ef06358925f3e6e33a02308	The essential features of TOS were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+b1c4c717ad3b49960c8166f5b9e71572b94d623a	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+2b98b9706b04bd8079b364a3e4724b05347e9fd0	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+fa752aa6ac8a2ed9b725d468ccb6fc2e89cb7f19	The essential features of TOS were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin @DISEASE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+bb81a186c385197184fa1ce8d4c0dca884d09335	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin @DISEASE$ and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+e258abf1f5c130a59375e8d6c834f8fd13a65fa4	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin @DISEASE$ and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+28de4f2ad70d345ceb6c196d7e276cda44d93c23	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+ab407d4864f6ffb600b9d5ae715f7b14cf5cf479	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @PHENOTYPICFEATURE$, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+c59f4a9bd2fa181c0b7b9eb3733e1531938c606a	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+9fbb072e909c8abb1637402c19c10120961fb3ba	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, @DISEASE$ injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+3ddfaa627e8157a0b4e482e5755853b960ec1032	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @PHENOTYPICFEATURE$, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+d90a3b05d6cbbf6f316e5215745a99a3965cf6c0	The essential features of @DISEASE$ were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+c90e4c2c44010b8b9f08c1a61260fe683b3859e9	The essential features of TOS were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic @DISEASE$, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+31f4a9d2986d843da71eec6f50d2a7f727b88174	The essential features of TOS were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, @PHENOTYPICFEATURE$, hepatic injury, skin @DISEASE$ and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+5aed70e28cc01e2f39cccbb5018e656f9ba27022	: TAS: Total antioxidant status,@DISEASE$: Total oxidative status; OSI: Oxidative stress index; MDA: Malondialdehyde; C: Congestion; H: Hemorrhage, E: @PHENOTYPICFEATURE$; SG: Sloughed germinal cells; SA: Spermatogenesis arrest; STD: Seminiferous tubules disorganization; STA: Seminiferous tubules atrophy; G: Giant cells; T/D: Torsion/detorsion; DP: Date palm.	has_symptom
+264b4a788c575da2e8c0614f48f69a8407aaebac	The causes of @DISEASE$ vary, and can include abrupt movements, hypertrophy of the neck musculature, and anatomical variations in which the brachial plexus roots pass through this musculature, @PHENOTYPICFEATURE$, pregnancy, repeated overhead motions, the blockage of an artery or vein, or abnormal posture.	has_symptom
+2d2aafe635583007376d2b241256583c77fe84d4	@DISEASE$ (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of @PHENOTYPICFEATURE$.	has_symptom
+d71f4fd3a77e3071cbfe68a1688ff2bd366819af	Isolated unilateral @DISEASE$-associated @PHENOTYPICFEATURE$ disease in a neonate.	has_symptom
+981360139ad0255641fcb10fe2e9b92172be977c	The natural history of @PHENOTYPICFEATURE$ in an infant with @DISEASE$: evaluation with ultrasound.	has_symptom
+bb366cbeea21bed6ac0405d474943dcca9dea935	We studied 27 unrelated patients with @DISEASE$ and @PHENOTYPICFEATURE$ disease.	has_symptom
+1c3ad2f85ec97166a242719c15b9e624893ab46a	In @DISEASE$, @PHENOTYPICFEATURE$ are associated with angiomyolipomas and sometimes pulmonary lymphangioleiomyomatosis.	has_symptom
+4051a5a3d8df91f69009dc33aa2a268f4b55e4ae	Cerebral aneurysm, @PHENOTYPICFEATURE$ and hamartomas in a case of @DISEASE$.	has_symptom
+52c9be1e42ed6361c58bd7d1980e843ecc7f576d	Cardiac rhabdomyoma and renal cyst in a fetus: early onset of @DISEASE$ with @PHENOTYPICFEATURE$ disease.	has_symptom
+222d9a1ad70c11e35684420383760bf4cd9c1167	Cardiac rhabdomyoma and @PHENOTYPICFEATURE$ in a fetus: early onset of @DISEASE$ with renal cystic disease.	has_symptom
+fe2d93f2cec59421bb1fb14e797236b83fc7496c	Angiomyolipomas and @PHENOTYPICFEATURE$ are commonly observed in patients with systemic @DISEASE$.	has_symptom
+c1c1efe34c370da1625c127fb391eb8b9269ffbc	We report on an infant in whom bilateral @PHENOTYPICFEATURE$ were the only initial manifestation of @DISEASE$.	has_symptom
+909ebdbc47953288ae6705a6444fbf79ef513fc4	Renal angiolipomas combined with @PHENOTYPICFEATURE$ disease in @DISEASE$.	has_symptom
+e8518d17f305717d54219904f4d16e14cdb74df8	Early presentation of @DISEASE$ as bilateral @PHENOTYPICFEATURE$.	has_symptom
+68b07ccb369c3e694263bae55d413eebdefa4880	Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and @DISEASE$) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and @PHENOTYPICFEATURE$ surgery.	has_symptom
+92d26eb5aa3a3eeef3529f2410e6adafac70c97c	Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and @DISEASE$) who underwent @PHENOTYPICFEATURE$ surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery.	has_symptom
+f455192ab7ee40708fdf3630ee3cff9ca726ee02	The major causes of SVI/BL in this study were: (1) corneal staphyloma, corneal scar, and phthisis bulbi (mainly attributed to infection) in 29.7%; (2) retinal dystrophies (mainly @DISEASE$, early onset retinitis pigmentosa) in 20.6%; (3) congenital and familial @PHENOTYPICFEATURE$ (13.3%); (4) microphthalmus, anophthalmus (10.9%).	has_symptom
+c93772b4d33547fabc01e65b7219d129d7902e2f	Identification of a novel LCA5 mutation in a Pakistani family with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+fd670c84e0fd176f9a185b63f27efe5d2b907ec0	@DISEASE$ (CCD) is an autosomal dominant disorder that presents with @PHENOTYPICFEATURE$.	has_symptom
+a7799d688443fc050d0e3645300570b558ff13a0	@DISEASE$ (CCD; OMIM: 119600) is a rare autosomal dominant @PHENOTYPICFEATURE$ caused by RUNX2 gene mutations.	has_symptom
+941da7929a0b65372e53ce7edd644c100e4c7169	@DISEASE$ (CCD) is an autosomal dominant @PHENOTYPICFEATURE$ associated with cranial, clavicular, and dental anomalies.	has_symptom
+0f9cacbce148d22c4d55ca150d8f18a7a6db0c8a	@DISEASE$ (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and @PHENOTYPICFEATURE$.	false
+3ffeee0058628f67c59551bb5d3b019402f60f1c	Cleidocranial dysplasia (CCD) is an autosomal dominant @DISEASE$ associated with cranial, clavicular, and @PHENOTYPICFEATURE$.	false
+bdf5f8a04c3527beceb018ba03c9298f681618b2	@DISEASE$ is a type of @PHENOTYPICFEATURE$, which is primarily characterized by delayed ossification of skeletal structures.	has_symptom
+f9471adc538e00bf0c66d72f4fa02509002a6d50	@DISEASE$ (CCD) is an autosomal dominant @PHENOTYPICFEATURE$ associated with clavicle hypoplasia and dental abnormalities.	has_symptom
+d3a9dffd42d104c4811d8bc995d6c05cf54fc648	@DISEASE$ (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and @PHENOTYPICFEATURE$.	false
+40121b781bed6425ada7b219cff7eebafaf3ae85	Cleidocranial dysplasia (CCD) is an autosomal dominant @DISEASE$ associated with clavicle hypoplasia and @PHENOTYPICFEATURE$.	false
+d0eeb0ef7907060550a58fbb66119391fe35bc07	Two cases of @DISEASE$, a rare autosomal dominant @PHENOTYPICFEATURE$ affecting both membranous and enchondral bone formation.	has_symptom
+10079d0659b830a3da2734992b8e0935459804d0	@DISEASE$ (CCD) is a rare autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+f13cdd7f78a20dd7456619b9e9396b93bbc654e2	@DISEASE$ (CCD) is a @PHENOTYPICFEATURE$ with autosomal-dominant inheritance.	has_symptom
+04a7ccbb4c93d5e879cffd667ebc74d70c7e118b	@DISEASE$ syndrome is a rare autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+e61d970802aafa709a1595d2bd153f73fc23481f	@DISEASE$ (CCD) is a generalized @PHENOTYPICFEATURE$ with autosomal dominant inheritance.	has_symptom
+b728ece1e3e19bc5e26d235957532cd267bce8cd	We are reporting a case of @DISEASE$ presented to our hospital for @PHENOTYPICFEATURE$ and developmental delay at age 3? years.	has_symptom
+ad276f9108528e4dccae59ddd4140e5fa71483ef	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @PHENOTYPICFEATURE$, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and cardiovascular abnormalities.	has_symptom
+70197863c0a7046399168dbdfab9227bc5597008	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @DISEASE$, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, seizures, and cardiovascular abnormalities.	false
+016a9f6bcef9906253219aaaa4270827e7ebb5ec	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal @DISEASE$, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and @PHENOTYPICFEATURE$.	false
+4661aa38a478b3ee948cf4d9164c5b4a37794506	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, @PHENOTYPICFEATURE$, and cardiovascular abnormalities.	false
+c625fc5948d4763c8366656c6a3b46c7b53f2761	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal @DISEASE$, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, seizures, and cardiovascular abnormalities.	false
+87e50fe4f40a848cef2a8934306d74534811e367	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @DISEASE$, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and @PHENOTYPICFEATURE$.	false
+b1c1f0e09001063a26e65abe8b87d1fd17467c41	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, @DISEASE$, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, @PHENOTYPICFEATURE$, and cardiovascular abnormalities.	false
+019f0e32113ed7a6717ce95623002049e78994ee	Accordingly, it is proposed that Say-Meyer syndrome should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal @DISEASE$, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, @PHENOTYPICFEATURE$, and cardiovascular abnormalities.	false
+7907749a178cbb43220410d22582b9bb41cb2cb7	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, seizures, and cardiovascular abnormalities.	false
+e701a4c6970019fef8d1f51849173bd117a421a7	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and @PHENOTYPICFEATURE$.	false
+521098ed074a60d3f5530abb74f32ea98bda1def	@DISEASE$ is rare X linked condition characterized by developmental delay, @PHENOTYPICFEATURE$ and metopic suture synostosis.	has_symptom
+b5a48df2a0b78b3c81959d968f5eeebb3b3d806b	A rare case of @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+617bd9e1f4b282490217dffd7cb73d894296d9f7	@DISEASE$ is a rare and clinically heterogeneous syndrome characterized by trigonocephaly, @PHENOTYPICFEATURE$, developmental delay and hypotelorism.	has_symptom
+4043d6b3cca6f659221945f103b93dda2f41b6d0	Hypokalemic periodic paralysis, @PHENOTYPICFEATURE$ and ventricular arrhythmia (clinical triad of @DISEASE$).	has_symptom
+12b39bf5499e8311fd5c8bd78d277a2aba86d1a8	@DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$ (clinical triad of Andersen-Tawil syndrome).	false
+c2793fe0b7d6b62211f936c521aaccb57976616b	Hypokalemic periodic paralysis, @DISEASE$ and @PHENOTYPICFEATURE$ (clinical triad of Andersen-Tawil syndrome).	false
+4cd35a8874cdfb8769c09bd80fb2520f3d07e075	Hypokalemic periodic paralysis, facial dysmorphism and @PHENOTYPICFEATURE$ (clinical triad of @DISEASE$).	false
+db04e95b409b66a31f37e65804424e89f5fe2084	@DISEASE$ is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an @PHENOTYPICFEATURE$; syncope and sudden death have also been reported.	has_symptom
+906815ce9e86ca139f37f0d48e346fc15acf46d1	Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, @PHENOTYPICFEATURE$, and an @DISEASE$; syncope and sudden death have also been reported.	false
+d9be8fe26cee940cd64d214722a517f889d5351e	@DISEASE$ is a rare entity and comprises potassium sensitive periodic paralysis, @PHENOTYPICFEATURE$, and an unusual facial appearance; syncope and sudden death have also been reported.	false
+8d36762c5e8542f703c0f445b555da98b84eed0e	The clinical manifestations corresponded to those of @DISEASE$, with an akinetic-hypertonic syndrome, pyramidal signs, sphincter disturbances, sexual potency loss and @PHENOTYPICFEATURE$.	has_symptom
+234205c43b8571ce528e0d9d3080cf96872b58fc	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar @PHENOTYPICFEATURE$ with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, @DISEASE$ and Leigh syndrome.	has_symptom
+9b42b00d373d5b6c709a5e76678b21b397cd444d	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, @DISEASE$ and Leigh syndrome.	false
+ae07ca81b4c2a7beb8ec34ee1ba5cd680c2ee600	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and @DISEASE$.	false
+a2edd5c07b9903293ba0e83afc7754d3bfde475f	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+2cb69145ccaf0995fdd6d2b88657f9b3def1aaf4	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, @DISEASE$, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+fcbf0a543846c103627b6982ec0fcd23bf1e9ecf	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive @DISEASE$, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+51148a902e42611792803d38969e9fbb374ed091	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and @DISEASE$.	false
+5cf83e9f2a6d1314d4face34899aaa80ad42c1e3	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+df42b03902b22fa06a761e475f1d8d6cfafe2cb2	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive @DISEASE$, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+aaecaa029ec2b691d12cf493a69f0064730a484c	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar @DISEASE$ with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+cb11264f687a812311477a5ed10e76199348fb36	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, @DISEASE$ and Leigh syndrome.	false
+4c81fe2a4228afa24da57598ea75f76c48cad797	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar @DISEASE$ with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+441f3190dfafb3b58111f90f5c8940b8fd13d881	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, @DISEASE$, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+d33cfa612ed5f8b6fceae3c802e7192b2bb1486b	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (ADD), motor seizure duration (@DISEASE$), stage 5 duration (S5D) and @PHENOTYPICFEATURE$ duration (SD), but only the effect on ADD was dose-dependent.	has_symptom
+360f9d8adedb08c5b434742a1f6b50f7ad1e219d	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (ADD), @PHENOTYPICFEATURE$ duration (@DISEASE$), stage 5 duration (S5D) and seizure duration (SD), but only the effect on ADD was dose-dependent.	false
+8ecf9b51526ad066f88a517c30318fa5e80f15b8	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (@DISEASE$), @PHENOTYPICFEATURE$ duration (MSD), stage 5 duration (S5D) and seizure duration (SD), but only the effect on ADD was dose-dependent.	false
+ddf7bcddadff894a46c0bedc2b6703975fe51340	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (ADD), @PHENOTYPICFEATURE$ duration (MSD), stage 5 duration (S5D) and @DISEASE$ duration (SD), but only the effect on ADD was dose-dependent.	false
+dcc7321330fe33edc51f2df911fd1aa951c7f4e7	Child with @PHENOTYPICFEATURE$, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: @DISEASE$ or new disorder?	has_symptom
+c7f7dc35820c3f45d411043df5806962c81f88a3	Child with @DISEASE$, pigmentary streaks, @PHENOTYPICFEATURE$, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?	false
+e286ebaf4d9dbc7bf96aff9a5e09052d4de7fe0f	Child with overgrowth, pigmentary streaks, @PHENOTYPICFEATURE$, and intestinal lymphangiectasia: @DISEASE$ or new disorder?	false
+077f2791bd995421398152fb1795de5d146e785d	Recent studies have discovered a group of @PHENOTYPICFEATURE$ syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (@DISEASE$) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	has_symptom
+817bbfcf787aab313f63dd6369d9cbdd99b38ce0	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) @DISEASE$, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+7087476a521645d028f05fa65976051b7ac21fd8	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-@DISEASE$ (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+734e715cbd7fe679de915ae10ca42aa103699707	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and megalencephaly-@DISEASE$-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+07eef0f448f8806e204b96b7e53923dc3711d428	Recent studies have discovered a group of @DISEASE$ syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+9dffdf49447b3e883aa35c34cc1fcae2cb21c156	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and @DISEASE$-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+c596021368dd822dfd0106641974f03cfa8fdb11	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) @DISEASE$, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+d16a396208c8c05f6e3f6e1686f78929f4e583d8	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, @DISEASE$, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+423d8025bc9e8ce1c7fa596c4c44dbf4651f0bdb	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (@DISEASE$) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+417faa8f52ba1f4e0883ae6a6a8f1b6636c9de79	@DISEASE$ (MCAP) is a brain @PHENOTYPICFEATURE$ disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA).	has_symptom
+b34aca32bc0bf5175893023807586bf71e5b58fc	This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (@DISEASE$) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose @PHENOTYPICFEATURE$ and Klippel-Trenaunay syndrome.	has_symptom
+ef294b4aeda586ae09020bd511f9e207b169f093	Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17?years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n?=?1], CLOVES [congenital lipomatosis, @PHENOTYPICFEATURE$, vascular malformations, epidermal nevi, spinal/skeletal anomalies, scoliosis; n?=?1], and MCAP [@DISEASE$; n?=?4].	has_symptom
+6dc91037ecf4a82e4468e044d1a281b95b018b4c	Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17?years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n?=?1], CLOVES [congenital lipomatosis, @DISEASE$, vascular malformations, epidermal nevi, spinal/@PHENOTYPICFEATURE$, scoliosis; n?=?1], and MCAP [megalencephaly capillary malformation syndrome; n?=?4].	false
+bc689c4492f3df15e2856cb94fc50d79ba830322	Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17?years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n?=?1], CLOVES [congenital lipomatosis, overgrowth, vascular malformations, epidermal nevi, spinal/@PHENOTYPICFEATURE$, scoliosis; n?=?1], and MCAP [@DISEASE$; n?=?4].	false
+cf791eb70b6465da70488148f12f9fc415e1572c	Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17?years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n?=?1], CLOVES [congenital @DISEASE$, overgrowth, vascular malformations, epidermal nevi, spinal/@PHENOTYPICFEATURE$, scoliosis; n?=?1], and MCAP [megalencephaly capillary malformation syndrome; n?=?4].	false
+6d61deb1bd455a0fdaef4a8478b703b71ed25d4a	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous @PHENOTYPICFEATURE$ Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (@DISEASE$) syndrome and underlines the utility of this umbrella term.	has_symptom
+3dcaafdd841401158eeac6841864ea8dc07765bd	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) @DISEASE$ and underlines the utility of this umbrella term.	false
+e669dc6705f6ec4e55e4ad588c09702812c240c6	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (@DISEASE$) syndrome and underlines the utility of this umbrella term.	false
+2004a4d781f18a32fe3323eab58bc7d5ffb7608d	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital @DISEASE$ Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+a9e0dd54084e5e21c1ef65fc472a1cc83cbc13b5	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-@DISEASE$ Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+240f7896a80fc76e1736e8138cf0beaab31dc1db	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation @DISEASE$ (MCAP) syndrome and underlines the utility of this umbrella term.	false
+ab5748e1f1b2a74d0a3b72133804ad29aa5f417c	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth @DISEASE$ Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+4e3ff8611e4a16aa0ca8605ea794e12b041a0d83	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) @DISEASE$ and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+98e64cd84cb4b33015a9ba3843d5b23b7bd77eb2	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous @DISEASE$ Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+8591277865e9998a13292ab92bd138bfbd796b53	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and @DISEASE$-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+ea3b210a2768bf8693bcac28378b153be8309057	A survey of antiepileptic drug responses identifies drugs with potential efficacy for @PHENOTYPICFEATURE$ control in @DISEASE$.	has_symptom
+0f0857e4756f7122d2c62c649e759c845e99ef38	@DISEASE$ is characterized by distinctive @PHENOTYPICFEATURE$ and EEG patterns that facilitate the early diagnosis and management of such patients.	has_symptom
+33065eb02e5abf8c24131c071b753a7a9a2e6222	Chromosomal microarray testing identifies a 4p terminal region associated with @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+78d146a4f1c9ce5a894df33429acb36b9bf27875	@PHENOTYPICFEATURE$ in the @DISEASE$: report of two cases.	has_symptom
+093fa902f560fde92b43368be887ab2f6eeb6877	@PHENOTYPICFEATURE$ are present in over 90% of infants and children with @DISEASE$ (WHS).	has_symptom
+3cedfbc6ba57b123aac82509b6f71d690bd6c38f	Early Postnatal @PHENOTYPICFEATURE$ in a Neonate with @DISEASE$.	has_symptom
+0caa442fe08c6c4dacbc1a215546d76130173e81	@DISEASE$ (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and @PHENOTYPICFEATURE$.	has_symptom
+7582d8f4770b765afa7d002be7f2e8991c8e3925	Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (@DISEASE$) which is characterized by craniofacial features and @PHENOTYPICFEATURE$.	has_symptom
+9671e36a0b021a8a647b5ff9e121c28a372a9b3b	Treatment of intractable @PHENOTYPICFEATURE$ in @DISEASE$ with bromide.	has_symptom
+bdd0a4bcb7c00ff2ed24d47da1fd980429e60f49	A case for cannabidiol in @DISEASE$ @PHENOTYPICFEATURE$ management.	has_symptom
+2a76924b968d0f3bf18b6771d6045f057a495e7d	A Drosophila mutant of LETM1, a candidate gene for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8130b100606701de5e5ad63b693256ced1c78c7b	The characteristic facies, joint contractures, @PHENOTYPICFEATURE$, and growth and developmental delay of the @DISEASE$ were present in a 19-month-old boy.	has_symptom
+2a1776cc5338e8da7993bb65f8c47d213ff9c18e	The characteristic facies, @PHENOTYPICFEATURE$, @DISEASE$, and growth and developmental delay of the Marden-Walker syndrome were present in a 19-month-old boy.	false
+c906164f9a9dd3b0eae7ed83957a5fe6b403b4d8	The characteristic facies, @PHENOTYPICFEATURE$, muscular hypotonia, and growth and developmental delay of the @DISEASE$ were present in a 19-month-old boy.	false
+56f5c5d40921fe6eff399eeee3e129d35ab6fd70	@DISEASE$ (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	has_symptom
+2c706759c4900ede944095c6d599ab438797d238	Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, @DISEASE$, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+549f29a817ea9950108db1728988a0650165c0fd	Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+e8d6db068369d7f81e9118331e1b4538660c0fa1	@DISEASE$ (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+d5516f6c13ce2734b918b0c6c5aa11adc8da2980	@DISEASE$ is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, growth retardation, developmental delay, @PHENOTYPICFEATURE$, epilepsy, and difficulty with language including verbal communication.	has_symptom
+c1c4b5e36af5ccc523bae91d0ed27ce13566ce27	Wolf-Hirschhorn syndrome is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with @DISEASE$ may have a "Greek warrior helmet" appearance, growth retardation, developmental delay, @PHENOTYPICFEATURE$, epilepsy, and difficulty with language including verbal communication.	has_symptom
+7c4211fbd4b169561b374e3c4abf4a294ad8d166	Wolf-Hirschhorn syndrome is a @DISEASE$ resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, @PHENOTYPICFEATURE$, developmental delay, muscular hypotonia, epilepsy, and difficulty with language including verbal communication.	false
+b5a9c96b6296a38512e3505b3dd2407d66aa78e0	Wolf-Hirschhorn syndrome is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with @DISEASE$ may have a "Greek warrior helmet" appearance, @PHENOTYPICFEATURE$, developmental delay, muscular hypotonia, epilepsy, and difficulty with language including verbal communication.	false
+ae89e5af9d8cd090721860c75f4128a831015323	Wolf-Hirschhorn syndrome is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, epilepsy, and difficulty with language including verbal communication.	false
+197324b92ef36f8b99a2fa35db682d8ce61e8989	@DISEASE$ is a congenital malformation syndrome resulting from deletion of the short arm of chromosome 4. Individuals with Wolf-Hirschhorn syndrome may have a "Greek warrior helmet" appearance, @PHENOTYPICFEATURE$, developmental delay, muscular hypotonia, epilepsy, and difficulty with language including verbal communication.	false
+eefc80aa8b2433b3f34526812d7c369e9a700e24	The @DISEASE$ (WHS) is a rare genetic condition presenting with severe mental disability, growth retardation, @PHENOTYPICFEATURE$, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	has_symptom
+1b4f5c5db4b12747dd968504217f524821ba2f51	The Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition presenting with severe mental disability, @PHENOTYPICFEATURE$, @DISEASE$, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	false
+0f20a0d8d05a4b3f7156f3092b3985665b36eaee	The @DISEASE$ (WHS) is a rare genetic condition presenting with severe mental disability, @PHENOTYPICFEATURE$, muscular hypotonia, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	false
+80c191b1e6b7f2d603585419041ee7553ee26676	The @DISEASE$ (WHS) is a rare genetic condition presenting with severe @PHENOTYPICFEATURE$, growth retardation, muscular hypotonia, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	false
+fc8903de3d7c7f2bdd3bfafb65b35fc17bbc396b	The Wolf-Hirschhorn syndrome (WHS) is a rare @DISEASE$ presenting with severe @PHENOTYPICFEATURE$, growth retardation, muscular hypotonia, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	false
+f71484cb16db7dfc00bba9ea2e70659eed860227	The Wolf-Hirschhorn syndrome (WHS) is a rare @DISEASE$ presenting with severe mental disability, @PHENOTYPICFEATURE$, muscular hypotonia, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	false
+8bd639f1aae0adf03b661d985623f203d5d67e93	The Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition presenting with severe @PHENOTYPICFEATURE$, growth retardation, @DISEASE$, seizures, craniofacial abnormalities and defects in the cardiovascular, genitourinary and digestive apparata.	false
+2b0a867194ac9bad8f7cce23cc93826e604c06c6	Spastic paraplegia gene 11(SPG11)-linked @DISEASE$ is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset cognitive impairment, thin corpus callosum and @PHENOTYPICFEATURE$.	has_symptom
+c340efccf2f7f943ee851c072bb77ead4ba2901c	Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset @PHENOTYPICFEATURE$, thin corpus callosum and @DISEASE$.	false
+4499d424a36135eea243bfc5b1f59c4b00830b77	Spastic paraplegia gene 11(SPG11)-linked @DISEASE$ is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset @PHENOTYPICFEATURE$, thin corpus callosum and enlarged ventricles.	false
+23cc0a3649a05721b1a0ca7cc193626022eada5a	Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic @DISEASE$ that in addition to spastic paraplegia is characterized by childhood onset @PHENOTYPICFEATURE$, thin corpus callosum and enlarged ventricles.	false
+04f5ebe195d07051049c8002424da496ce12e1d8	Spastic @DISEASE$ gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset @PHENOTYPICFEATURE$, thin corpus callosum and enlarged ventricles.	false
+7a1a826dbf2fd851f96aecf04e22effdfb217641	Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic @DISEASE$ is characterized by childhood onset @PHENOTYPICFEATURE$, thin corpus callosum and enlarged ventricles.	false
+c115bfa0762bb190f5b47ea6a5c4099f415165f5	@DISEASE$ presenting with @PHENOTYPICFEATURE$ in a child.	has_symptom
+6f9a397417290e8b04dfee498f9abcc45c645dca	We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and @PHENOTYPICFEATURE$), and appendicular exostoses similar to @DISEASE$.	has_symptom
+7098864d777ffe23431dae27285bf22f6323c5ba	We report a patient with a form of @DISEASE$ who developed @PHENOTYPICFEATURE$ at 4 months of age that proved to be hypoglycemic.	has_symptom
+a9b32cd482770b9cd99d866754b9bdcc0075b769	Six consecutive adult patients with @DISEASE$ and @PHENOTYPICFEATURE$ form the basis of the present study.	has_symptom
+5cacec373d220d6bb23d54429d4bfe85a78f225f	We describe first trimester @PHENOTYPICFEATURE$ in two siblings with @DISEASE$.	has_symptom
+bb8b7d7c2ead3fb8963a82352483a96c316dae49	A case of @DISEASE$ with cardiac syndrome X and @PHENOTYPICFEATURE$ with preserved ejection fraction.	has_symptom
+4e9b257abda52d84e0f74839f743e8078adda0c4	[A case of @DISEASE$ associated with @PHENOTYPICFEATURE$ due aortic valve stenosis].	has_symptom
+918c00cd14636ccc29f12b8696220ee12a755844	Contrary to previous case reports regarding @DISEASE$ (WS) with obstructive coronary artery disease (CAD), we herein report a case of WS with cardiac syndrome X (CSX) without obstructive CAD, complicated with @PHENOTYPICFEATURE$ with preserved ejection fraction (HFpEF).	has_symptom
+34de56e1c51c831abd259b487b23e642d2409db5	@DISEASE$ is a human overgrowth condition characterised by @PHENOTYPICFEATURE$, dysmorphic facial features, learning disability and variable additional features.	has_symptom
+6f4302ef7b3afc5cda967fafa0a423632e5b6520	A 61-yr-old woman with gallbladder stones, diabetes, @PHENOTYPICFEATURE$, diarrhea and steatorrhea, immunohistochemical diagnosis of @DISEASE$ (liver biopsy) and high plasma values of somatostatin was studied by somatostatin receptor scintigraphy.	has_symptom
+3d20c4c27008c810d768b7a4589324cdaabd6167	This case report examines the rare association of @DISEASE$ with @PHENOTYPICFEATURE$ as well as places emphasis on the features of the disorder that can aid in its diagnosis.	has_symptom
+b8065c5cae6bec5c57c71835c26d52efbc764089	A novel GJA1 mutation causing familial @DISEASE$ with dilated cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+f1307c51b94be2d39a2b5011ee35c0d300db0d3b	Bardet-Biedl syndrome (@DISEASE$) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+1337a567143679e6642695e51520a764d0bd6615	@DISEASE$ (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+3d0f8e98bd7f953e9282479fb99ae9f2433ffc9b	Bardet-Biedl syndrome (@DISEASE$) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, @PHENOTYPICFEATURE$, and renal anomalies.	false
+eefb06b3ead96e0e0486a58ed7746fcd379a27d9	Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6d37350d656e6ccf399891c71deacfff9ed48d8f	Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, obesity, hypogenitalism, mental retardation, and renal anomalies.	false
+de07748866d33d7a06717e1ef7f483612e50d8f1	Bardet-Biedl syndrome (@DISEASE$) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, hypogenitalism, mental retardation, and renal anomalies.	false
+e279db8b421301c343e078c1532537be811dd002	@DISEASE$ (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogenitalism, mental retardation, and renal anomalies.	false
+24cf5cdbf653a102a56fc6c936c7b3b03495569c	Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, hypogenitalism, mental retardation, and @DISEASE$.	false
+3a7324498f07407b3287c2f707ddd10dbb6f9b1f	Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, hypogenitalism, mental retardation, and renal anomalies.	false
+3bd6ee9169e2517fcbd7df24b142dcb6b4636f67	Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogenitalism, mental retardation, and @DISEASE$.	false
+bafd989dd1280e920c51a8558b270dae65984c42	Bardet-Biedl syndrome (@DISEASE$) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogenitalism, mental retardation, and renal anomalies.	false
+35e0e7b3e0c94dede0f1bc833852eca3e4ef411a	@DISEASE$ (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, hypogenitalism, mental retardation, and renal anomalies.	false
+cfc7c6d6ee581f53ab6420e2489825fa356ae50f	Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by @DISEASE$, polydactyly, obesity, hypogenitalism, @PHENOTYPICFEATURE$, and renal anomalies.	false
+520d910d48a7128decf5c63df876cc756ec9c743	@DISEASE$ (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, @PHENOTYPICFEATURE$, and renal anomalies.	false
+909ca9beab9fd20f754a24fd17ca4f6e80f51688	Neonatal @DISEASE$ with @PHENOTYPICFEATURE$ and hydrocolpos with vesicovaginal fistula.	has_symptom
+ac5f193223c95975308ba6b627f2f86cd5c708fe	@PHENOTYPICFEATURE$ are common in patients with @DISEASE$ (BBS), a renal cystic ciliopathy with multi-systemic features.	has_symptom
+bf90ad8417abaa5bd991c862d6060ee31ce4de1c	@PHENOTYPICFEATURE$ are common in patients with Bardet-Biedl syndrome (@DISEASE$), a renal cystic ciliopathy with multi-systemic features.	has_symptom
+91e069c8257c5ed14ac18b2170d07b1bbfbf884d	Renal anomalies are common in patients with Bardet-Biedl syndrome (@DISEASE$), a @PHENOTYPICFEATURE$ ciliopathy with multi-systemic features.	false
+b9e52a005829a4a92085efbca0f4b8fa8c734f62	Renal anomalies are common in patients with @DISEASE$ (BBS), a @PHENOTYPICFEATURE$ ciliopathy with multi-systemic features.	false
+004ba12dde35ceca3061639e03c64ae829496896	@DISEASE$ are common in patients with Bardet-Biedl syndrome (BBS), a @PHENOTYPICFEATURE$ ciliopathy with multi-systemic features.	false
+5c0a3f45d803e14537a5ea99d980f5885b7e882b	Bardet-Biedl syndrome (@DISEASE$, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, @PHENOTYPICFEATURE$ and hypogonadism.	has_symptom
+6e20ca4be2814974e2abc489d4a8c9ddced2715d	@DISEASE$ (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, @PHENOTYPICFEATURE$ and hypogonadism.	has_symptom
+173db7420aabda51bf9ece85d5954a10f8343722	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, @DISEASE$, post axial @PHENOTYPICFEATURE$, cognitive impairment, renal anomalies and hypogonadism.	false
+23fd54ddd9ebe42fabb6222e3200cb63d388dd28	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and @DISEASE$.	false
+cc6e3ba5336d93d458bde9d7ad231ec86f493d74	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, post axial polydactyly, cognitive impairment, @DISEASE$ and hypogonadism.	false
+a4d10e9035c3fdae58053119a297770a08139f3d	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare @DISEASE$ characterized by obesity, retinitis pigmentosa, post axial polydactyly, @PHENOTYPICFEATURE$, renal anomalies and hypogonadism.	false
+d92c741911fd26a9fc8de7029eb94435123e0452	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, @PHENOTYPICFEATURE$, renal anomalies and @DISEASE$.	false
+4be1d204bc7cde1aea603cd86eb23c7191757082	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism.	false
+188fb6ff3f29b831545e9e44bc0f15dd2dcaa89a	Bardet-Biedl syndrome (@DISEASE$, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, @PHENOTYPICFEATURE$, renal anomalies and hypogonadism.	false
+2b236f7445ec547fd5f985e9ae2e5b2a3543eb83	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial @PHENOTYPICFEATURE$, cognitive impairment, @DISEASE$ and hypogonadism.	false
+d1079410b38b4db40cb520cecbcba849577e6936	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare @DISEASE$ characterized by obesity, retinitis pigmentosa, post axial @PHENOTYPICFEATURE$, cognitive impairment, renal anomalies and hypogonadism.	false
+c91f3ef91cec2742f3a4fbc4c8a6addc5c82a467	Bardet-Biedl syndrome (@DISEASE$, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial @PHENOTYPICFEATURE$, cognitive impairment, renal anomalies and hypogonadism.	false
+3d0d70291ed32bf004813f52c40677406387acee	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial @PHENOTYPICFEATURE$, cognitive impairment, renal anomalies and @DISEASE$.	false
+97621c68e5bb696cf995c0c43dc8d5d54f113c98	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism.	false
+e752b6722c16abe6e7504fe5a416188d415526f2	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, @DISEASE$, post axial polydactyly, @PHENOTYPICFEATURE$, renal anomalies and hypogonadism.	false
+3792ed6c6e192b3cd46e87e9fd8242832f36edfa	@DISEASE$ (BBS, OMIM 209900) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism.	false
+b573fb8d55f5827ee3828e7020822d6a4990131f	Bardet-Biedl syndrome (@DISEASE$, OMIM 209900) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism.	false
+fe9c94332bc4cb93e2a32e5052f5a72d1cdf3af4	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, @PHENOTYPICFEATURE$, @DISEASE$ and hypogonadism.	false
+ac1ad72d0b5060aca60f980103802b3aa4d139db	@DISEASE$ (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, @PHENOTYPICFEATURE$, renal anomalies and hypogonadism.	false
+140ea2e484b50b8a03782a99c2ae232c1fca94eb	@DISEASE$ (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial @PHENOTYPICFEATURE$, cognitive impairment, renal anomalies and hypogonadism.	false
+64e52d18f1e73656e50e6ef2a36b6a4a7909a09b	Bardet-Biedl syndrome (@DISEASE$) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, obesity, male hypogenitalism, and @PHENOTYPICFEATURE$.	has_symptom
+5b5736d3d5cb308b429f62e83b34b38f3977fe97	@DISEASE$ (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, obesity, male hypogenitalism, and @PHENOTYPICFEATURE$.	has_symptom
+4acd9624531b147462541664f1af7226aba53364	Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, @PHENOTYPICFEATURE$, male hypogenitalism, and @DISEASE$.	false
+5cef2322679def4e2d47b2533604f1c8a2eda311	@DISEASE$ (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, @PHENOTYPICFEATURE$, male hypogenitalism, and renal anomalies.	false
+f0a8e3269b0af0e789024705a1856c5e90ed6f7c	Bardet-Biedl syndrome (@DISEASE$) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, @PHENOTYPICFEATURE$, male hypogenitalism, and renal anomalies.	false
+fad6636eae7a2d38ca3ce31cafabab3f38eae20f	Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, @DISEASE$, @PHENOTYPICFEATURE$, male hypogenitalism, and renal anomalies.	false
+4989ec5baca7f387613101561a7d4d0dd2032087	Bardet-Biedl syndrome (@DISEASE$) is a rare, autosomal recessive disease with retinal dystrophy leading to blindness, postaxial polydactyly, truncal obesity, learning disabilities, male hypogenitalism, and @PHENOTYPICFEATURE$.	has_symptom
+d475b7ea9df7f66879156d4f66b170a2e1bb6e60	@DISEASE$ (BBS) is a rare, autosomal recessive disease with retinal dystrophy leading to blindness, postaxial polydactyly, truncal obesity, learning disabilities, male hypogenitalism, and @PHENOTYPICFEATURE$.	has_symptom
+09cd1f05574715009ccb6f3f9833023bf3f957a7	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	has_symptom
+374e9edb71638fe9c1e087d98c6969ba3d628358	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	has_symptom
+db7e5a52bf6ebb07cdb19653dc43b0c335c17a25	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @DISEASE$, retinitis pigmentosa and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	false
+11465a27086cb013cbc91bd446f9df33ddfe16c6	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	false
+0d615894947a89a3d4204289cfdc9c83e79be910	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+45b3795227257e48e0acfec398898e120b2ef03a	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+0fdfc9cfd5627aa08ffc67ca9573ec4a255dd6ca	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, @DISEASE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+e569a87e51ef12ac87981e57be74ea6eaf8cd1fb	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, @DISEASE$ and hypogonadism and is inherited in an autosomal recessive manner.	false
+f16da6108aef90fc6378bcb6beaa76c28c87fa95	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, @DISEASE$ and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	false
+e2319521d6d82e5c0d8dfcb265dda627c4a2d53b	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	false
+774bca8f078168bf3489357e045c8581ab5bc6ec	Bardet Biedl syndrome (@DISEASE$) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, obesity, learning disabilities, hypogonadism and @PHENOTYPICFEATURE$.	has_symptom
+9474bdba546a9d8522a0dab9392cd12c67c675c1	@DISEASE$ (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, obesity, learning disabilities, hypogonadism and @PHENOTYPICFEATURE$.	has_symptom
+9570f2887e4c6a5052b5390fccbd2736f6fb4f25	@DISEASE$ (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, learning disabilities, hypogonadism and renal anomalies.	false
+b1190bfbe1867b4885041cefece0545ff05632bd	Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, learning disabilities, hypogonadism and @DISEASE$.	false
+92c2f868d1bdd801989cb1c953c8d95dbd1a98d1	Bardet Biedl syndrome (@DISEASE$) is a rare autosomal recessive condition characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, learning disabilities, hypogonadism and renal anomalies.	false
+46e336671006960be6fb2e6f4fcb9d06f725cbf4	Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, learning disabilities, hypogonadism and @DISEASE$.	false
+afc04e5d452738f8c50e917fdcd936796dbb0b00	Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, learning disabilities, hypogonadism and renal anomalies.	false
+2d817d4bc17d004b88d6e2d930cf14ae67c75107	Bardet Biedl syndrome (@DISEASE$) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, learning disabilities, hypogonadism and renal anomalies.	false
+9f5fa045dcc1932aae641a9243e2a25e2ea67ae3	@DISEASE$ (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, learning disabilities, hypogonadism and renal anomalies.	false
+561fab12707f5821c7ef80eebff957b1566cc263	Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by @DISEASE$, @PHENOTYPICFEATURE$, obesity, learning disabilities, hypogonadism and renal anomalies.	false
+76f8d94c12b2a800b34bab7f23e6d51081535cdd	Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, learning disabilities, @DISEASE$ and renal anomalies.	false
+cf1a37c4aa187fbcfda46a8f492f185f6cf09d81	Bardet Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, learning disabilities, @DISEASE$ and renal anomalies.	false
+3f9aefbd3190cb7e49f8483dc05ad940b997666a	Though none of these @PHENOTYPICFEATURE$ are neoplastic, there is a 17 fold increased risk for renal cell carcinoma in obligate carriers of @DISEASE$.	has_symptom
+bd111f179462f2ca806cb0bbe1fcf428f6a2d2a2	@DISEASE$ (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and @PHENOTYPICFEATURE$ that are caused by ciliary dysfunction.	has_symptom
+9df14a13fd9789195367c05fe3870605a213f5c0	Bardet-Biedl syndrome (@DISEASE$) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and @PHENOTYPICFEATURE$ that are caused by ciliary dysfunction.	has_symptom
+0747e542ccc372ffa2a95d836034da1ab5b148e1	Bardet-Biedl syndrome (@DISEASE$) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning @PHENOTYPICFEATURE$, and renal anomaly that are caused by ciliary dysfunction.	false
+ac7a26ace50ade33ffcfef6ad32eb5dfb9c83f41	Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-@DISEASE$, postaxial polydactyly, truncal obesity, hypogonadism, learning @PHENOTYPICFEATURE$, and renal anomaly that are caused by ciliary dysfunction.	false
+690a4f2c692a8832fde0968ad185108a09fa2035	Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning @PHENOTYPICFEATURE$, and @DISEASE$ that are caused by ciliary dysfunction.	false
+69d5d5b4bc15db4b31709cfa6e14e89edc5e8bf2	Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal @DISEASE$, hypogonadism, learning @PHENOTYPICFEATURE$, and renal anomaly that are caused by ciliary dysfunction.	false
+cb4b276cdb078cba0f22644f6c4bda1f811baebd	@DISEASE$ (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning @PHENOTYPICFEATURE$, and renal anomaly that are caused by ciliary dysfunction.	false
+d91a68483cae683721813ff44c7be0edb0208cff	@DISEASE$ or injury not clearly attributable to other known causes occurred on the order of 1 per 10,000 person-years among diabetic patients treated with oral @PHENOTYPICFEATURE$ drugs or insulin.	has_symptom
+e12463573c0ad12f103d42e3495fe40527653105	The clinical syndrome is manifested with signs consistent with profound @PHENOTYPICFEATURE$, hypokalemia, hypophosphatemia, and @DISEASE$.	has_symptom
+1c3212989e7218b0d5261cddc514ab6b51781f78	The clinical syndrome is manifested with signs consistent with profound hypoglycemia, @PHENOTYPICFEATURE$, hypophosphatemia, and @DISEASE$.	false
+8e84867fc7da83bf440f1a25df32b7813e6c2408	The clinical syndrome is manifested with signs consistent with profound @DISEASE$, hypokalemia, @PHENOTYPICFEATURE$, and acute hepatic failure.	false
+6b38c3748196b2f5e7e61776c259b2f155305545	The clinical syndrome is manifested with signs consistent with profound @DISEASE$, @PHENOTYPICFEATURE$, hypophosphatemia, and acute hepatic failure.	false
+cb79e22416f2ae856abc90b0527d348d3d5036b7	The clinical syndrome is manifested with signs consistent with profound hypoglycemia, hypokalemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5b3d31748a581251a903f0c19a4692b7e0cc37e1	The features of @DISEASE$ in the neonatal period include a haemorrhagic syndrome, collapse, neurological features, @PHENOTYPICFEATURE$, disturbed bleeding and clotting studies and abnormal liver function tests.	has_symptom
+b4fb08af8e8962ff2af16d6b5801ea553c98831c	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	has_symptom
+570336abacb5802ad4e14fb82d7101b0f5acc8bd	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, microcephaly, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+c73ca82ade184fe66371491d44e6279100584f45	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, microcephaly, large @DISEASE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+bd43c540e1153181042b809221e3784bf7c81c9e	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, microcephaly, large prominent eyes, a narrow nasal bridge, a tented @DISEASE$ lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+b85579af3abf219ae2b594422f70ee5f21fe3969	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @PHENOTYPICFEATURE$, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+da5d962ae4f56117f01bf1ba44c922b61fbe7b6c	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @PHENOTYPICFEATURE$, large prominent eyes, a narrow nasal bridge, a tented @DISEASE$ lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+a907b7d38e6f799d0183c83924c3bb1044784bc9	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @PHENOTYPICFEATURE$, large @DISEASE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+2b61d0c11699fd2ed57054d5dfe548d77ddc6160	We describe a case of a middle-aged woman, who presented to us with @PHENOTYPICFEATURE$, anorexia, abdominal distension from a massive hepatomegaly, low hemoglobin, and @DISEASE$.	has_symptom
+ced9774fb59bcaae9773677adcbed9ed06af2dd0	@DISEASE$ and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as abdominal pain, headaches, @PHENOTYPICFEATURE$, weakness or behavioural changes).	has_symptom
+cf2bf4dab12bdb512f40a30b42ea7771eb890907	Acute liver failure and haemolytic @DISEASE$ appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as @PHENOTYPICFEATURE$, headaches, fever, weakness or behavioural changes).	false
+edb6388001f13f55a91ef61198dc3fb9d0ff567e	@DISEASE$ and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as @PHENOTYPICFEATURE$, headaches, fever, weakness or behavioural changes).	false
+bae0c43094a7b6abc6ec2cbc461c2660196a0263	Acute liver failure and haemolytic syndrome appeared quite suddenly as the first manifestations of @DISEASE$ (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as @PHENOTYPICFEATURE$, headaches, fever, weakness or behavioural changes).	false
+2fe9a5c2a64d3cd412d0d577ebb6788a159cd687	Acute liver failure and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as @PHENOTYPICFEATURE$, headaches, @DISEASE$, weakness or behavioural changes).	false
+ac48a135ea1305ddb952d5c9a75f9ca4af60c9ad	A 44-year-old female initially presented with @PHENOTYPICFEATURE$, nausea and vomiting and was subsequently diagnosed with @DISEASE$.	has_symptom
+025f997e6d46e0dc5d7185768878d9458e91cb13	A 44-year-old female initially presented with @DISEASE$, @PHENOTYPICFEATURE$ and was subsequently diagnosed with acute liver failure.	false
+788d78eaf0372d7fc6b7fdc37f49499d9d1df818	A 44-year-old female initially presented with fever, @PHENOTYPICFEATURE$ and was subsequently diagnosed with @DISEASE$.	false
+24b926cd6f44fc7d4c0d1249637f6f35622d7264	A 13 year old boy presented with headache, sore throat, myalgia, and @PHENOTYPICFEATURE$ and subsequently developed haemolytic anaemia and @DISEASE$.	has_symptom
+4a1122bd525785a51c227171d9ddf93984cb4499	Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe, potentially life-threatening drug-induced hypersensitivity reaction, characterized by cutaneous eruptions, @PHENOTYPICFEATURE$, diffuse lymphadenopathy, along with hypereosinophilia, and elevated liver function tests, which in severe cases may lead to @DISEASE$ and death.	has_symptom
+88ec6fbe32db4bd8c466887b24b10aea24603076	@PHENOTYPICFEATURE$ is a frequent complication of paediatric @DISEASE$ (IBD).	has_symptom
+17e9e3217fe85867dcfecd16eeb7404ce0d439a0	@PHENOTYPICFEATURE$ is a frequent complication of paediatric inflammatory bowel disease (@DISEASE$).	has_symptom
+a44bd9cb93109dbebaf21c08f0b32b577e5e31fb	: @PHENOTYPICFEATURE$ is common in children with @DISEASE$ (IBD).	has_symptom
+c557d930fbd6457d074a6d6676040813468dbee5	: @PHENOTYPICFEATURE$ is common in children with inflammatory bowel disease (@DISEASE$).	has_symptom
+3528bcd693ba33ea2d83c4fa9d4816eea7598ca7	Severe @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+50d42aa1e5824755597d5a5a20f105b79d8c81f8	Skeletal demineralization and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a18d9ff597ab8d41f56fbd2c71d9c24c134e7193	@PHENOTYPICFEATURE$ in chronic @DISEASE$.	has_symptom
+f8e9ee638010b96bdaef31e1f82ac8a0f869a879	Linear @PHENOTYPICFEATURE$ is a frequent complication of @DISEASE$ in children.	has_symptom
+9aefb757e01fe2ad593708d24d7802e27cb779ed	Many children with @DISEASE$, mainly Crohn's disease, suffer from malnutrition and @PHENOTYPICFEATURE$.	has_symptom
+5cba1533504d62700d1fe10ac501878d57e99984	pubertal delay and @PHENOTYPICFEATURE$ are common in children with @DISEASE$ (IBD).	has_symptom
+074f952df007bfe13db782a5db90fb7d8cab2a6c	pubertal delay and @PHENOTYPICFEATURE$ are common in children with inflammatory bowel disease (@DISEASE$).	has_symptom
+2821bb24c3c61ceef226528394f9a0087271b1cb	We therefore investigated the cause of @PHENOTYPICFEATURE$ in Japanese children with @DISEASE$.	has_symptom
+894177cf4040949e954f289417548f648837540a	Main features of the @DISEASE$ are failure to thrive, marked motor and @PHENOTYPICFEATURE$, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.	has_symptom
+18f96e138e267c8f076aa5d1dbb2589ddbd60923	Main features of the Marden-Walker syndrome are @PHENOTYPICFEATURE$, marked motor and @DISEASE$, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.	false
+897777bfe2ad35f52f2557a0a8374c826158783f	Main features of the @DISEASE$ are @PHENOTYPICFEATURE$, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.	false
+d19ba087d39b7ff0150a20b1ebbfdd7fddc351de	We present a girl with the characteristic clinical picture associated with @DISEASE$ (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, @PHENOTYPICFEATURE$, a multicystic dysplastic kidney and cerebral dysgenesis.	has_symptom
+9c4e9c982e7fbaa50d4a85d9ad6d53831c9ada32	We present a girl with the characteristic clinical picture associated with @DISEASE$ (MWS; OMIM 248700), including mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis.	false
+f2dc764713f95c6d55d3e939ab4669601c6ed1b4	We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, @DISEASE$, a multicystic dysplastic kidney and cerebral dysgenesis.	false
+41de68b84992b407fbae2d5634f1650cb51abce1	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and @PHENOTYPICFEATURE$ (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to @DISEASE$ (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	has_symptom
+8cd5a8c7ca87a5d5b2a30429228600915ec98d4e	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and @DISEASE$ (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin @PHENOTYPICFEATURE$ (n = 3).	false
+78a574dbfe2da4f8f5933e198f20248ab404b3c6	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and @DISEASE$ (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and @PHENOTYPICFEATURE$ secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	false
+05dd6dff11cdb8309b5da3b44902ee8cc632d066	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset @PHENOTYPICFEATURE$ (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to @DISEASE$ (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	false
+2654b61102553eb037696926b0cd1258c3941417	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to @DISEASE$ (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and @PHENOTYPICFEATURE$ secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	false
+fa2b9f5486230677516544980cfeeb0f1783a09f	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: @PHENOTYPICFEATURE$ secondary to @DISEASE$ (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	false
+6e1d7f9e7c0910fc469bd3798ba1abac72562410	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and tinnitus (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to @DISEASE$ (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin @PHENOTYPICFEATURE$ (n = 3).	false
+41d21bef0ac9b5a32e1eba76eecb118d29ce5fdd	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset @PHENOTYPICFEATURE$ (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and @DISEASE$ (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: seizures secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	false
+8624ad84bf491924e4a74d8b98c637b857287a2d	Causes of referral prior to a definitive diagnosis of NF2 were: 1) Ophthalmologic problems: early onset lens opacities (n = 3); strabismus (n = 3) and amblyopia (n = 3) (due to underlying cranial nerves and/or brain tumours); 2) Otolaryngology problems: hearing loss and @DISEASE$ (n = 2) in early teens disregarded or treated as ear infections; hoarse (n = 1) or bitonal (n = 1) voice; 3) Neurological dysfunction: @PHENOTYPICFEATURE$ secondary to intracranial meningioma (n = 1) or vestibular schwannomas (VS) (n = 1), neurological dysfunction related to brainstem and/or spinal cord tumours (n = 7), isolated and multiple cranial nerve deficits (n = 10), and peripheral neuropathy secondary to schwannomas (n = 4); 4) Skin manifestations: schwannomas misdiagnosed as neurofibromas because of associated caf?-au-lait spots (n = 2); caf?-au-lait spots (n = 8) and skin tumours (n = 3).	false
+18d419ffa215d72ac54a4a8cb75fd0b8aab83f30	An advanced @DISEASE$ may be overshadowed by the hearing loss, @PHENOTYPICFEATURE$, and otalgia calling attention to an intratympanic component.	has_symptom
+bb208cf4020d28705da866dead4f353ba5dad6f1	Paroxysmal @PHENOTYPICFEATURE$ due to a @DISEASE$ in the cerebellopontine angle.	has_symptom
+810033de1f2f830d930a9d2f9766cebf3aa9aec3	A 56-yr-old woman with left ear @PHENOTYPICFEATURE$ presented with a 3-cm CPA @DISEASE$.	has_symptom
+ea34628c47c138a7c4a6172ca78852cf18b3d92e	A 69-year-old male patient, with bilateral hypoacusia and @PHENOTYPICFEATURE$, had a diagnosis of left vestibular schwannoma with synchronous @DISEASE$ on the left frontal lobe.	has_symptom
+46b327b7d929bac70a2e3322679bf7c896bacefc	A 45-year-old woman with long-term unilateral ear problems, hearing loss, vertigo and @PHENOTYPICFEATURE$ was diagnosed with a @DISEASE$ in the middle ear.	has_symptom
+0ed45593580a7faf7f86b97865fe58d220200da6	A 45-year-old woman with long-term unilateral ear problems, hearing loss, @PHENOTYPICFEATURE$ and tinnitus was diagnosed with a @DISEASE$ in the middle ear.	false
+d0de12c3fe6cd143e7b46d469d8a3a1cae31b14c	A 45-year-old woman with long-term unilateral ear problems, hearing loss, @PHENOTYPICFEATURE$ and @DISEASE$ was diagnosed with a meningioma in the middle ear.	false
+1011a9914813de3596c0785b8b74a57c5024b225	A 45-year-old woman with long-term unilateral ear problems, @DISEASE$, @PHENOTYPICFEATURE$ and tinnitus was diagnosed with a meningioma in the middle ear.	false
+61111d6e354cfc837ab2da5ec46b92bc0d9e1684	Indications for endoscopy included suspected peptic disease, gastroesophageal reflux, unexplained vomiting, @PHENOTYPICFEATURE$, iron deficiency anemia and @DISEASE$.	has_symptom
+8e3612394d607ae0ad5311a72e1c5c05295f7479	@DISEASE$ (CD) is a chronic intestinal disorder characterized by overproduction of inflammatory cytokines and recurrent @PHENOTYPICFEATURE$.	has_symptom
+5a41c2e488593c7ac8a8eed8cc7462783b416114	The patient is a 44-year-old woman with @DISEASE$, who presented to the ED with @PHENOTYPICFEATURE$.	has_symptom
+02f59b4d5f2d5f0178d40b314733a1c6dfd6c3bb	@DISEASE$ (CD) is a form of inflammatory bowel disease and is mainly characterized by diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+98159d9e1058e20667a159c57da3426263b4f755	Criteria of @DISEASE$ (CD) were history of @PHENOTYPICFEATURE$, blood in stools, and endoscopic, radiologic, and histologic features of CD.	has_symptom
+301613d18b1c9bc4a039bcf5f066a1dfae666403	We report on a 48-year-old patient with @DISEASE$ and left @PHENOTYPICFEATURE$, who presented with hematuria and proteinuria.	has_symptom
+4d6526bfeea46233b2bb5e03fc46378d4ad6e421	Neurotransmitter alterations in the anterior cingulate cortex in @DISEASE$ patients with @PHENOTYPICFEATURE$: A preliminary MR spectroscopy study.	has_symptom
+a8da0496f88c4f446e7d578bb7aef4dc774db3b8	The elevated risk of inflammatory bowel disease, notably @DISEASE$, after appendectomy probably reflects differential diagnostic difficulties in patients with @PHENOTYPICFEATURE$.	has_symptom
+678bbac0f7cb74f30953186d38616d5dd27063b0	Concurrent diagnosis of @DISEASE$ and colorectal carcinoma in a young man with @PHENOTYPICFEATURE$.	has_symptom
+f4487ba507c3ca85a384520b763331c3493564bc	A middle-aged man with long-standing @DISEASE$ maintained in remission on low-dose immunosuppression presented with @PHENOTYPICFEATURE$.	has_symptom
+3285a443c977e78a472de5e5f7ed51e7c3d4e927	We report a proximal 7p interstitial inverted duplication in a mother and daughter both of whom have features of @DISEASE$, including marked @PHENOTYPICFEATURE$, low birth weight, facial asymmetry and 5th finger clinodactyly.	has_symptom
+be0acec92bfa9ebbe330a4e84e4b52906a324e3a	Pathogenic submicroscopic imbalances were detectable in a significant proportion of patients with @PHENOTYPICFEATURE$ and features reminiscent of @DISEASE$.	has_symptom
+0bf80e0a2bd41bfd97a9586fba1b07e9c8e0f2ed	This study examined cognitive development in Silver-Russell syndrome (@DISEASE$), a condition with intrauterine growth retardation, persisting @PHENOTYPICFEATURE$, and specific stigmata.	has_symptom
+ee25d2b60b7066c94f80a57b28f717c6b52bdf76	This study provides further evidence that maternally inherited duplications of 11p15.5 result in a @DISEASE$ phenotype that includes @PHENOTYPICFEATURE$ and other variable features.	has_symptom
+aa0afe3ea9cb24439cb163946995f60f26d9b794	All 12 patients studied exhibited the classical @DISEASE$ phenotype with low birth weight, connatal macrocephaly, typical facial features and @PHENOTYPICFEATURE$ at presentation.	has_symptom
+b2bdee9d29e4a8a469f4d260fd1af1fe5d129c25	All 12 patients studied exhibited the classical SRS phenotype with low birth weight, connatal @PHENOTYPICFEATURE$, typical facial features and @DISEASE$ at presentation.	false
+2f3135dda7ce12c7de5cc546490b7d6db8335dcd	All 12 patients studied exhibited the classical @DISEASE$ phenotype with low birth weight, connatal @PHENOTYPICFEATURE$, typical facial features and short stature at presentation.	false
+36307d34c5a175f0f865601697d1d49faaa38be8	We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, @PHENOTYPICFEATURE$, and minor features, such as macrocephaly, clinodactyly, essential for the diagnosis of @DISEASE$.	has_symptom
+28afccf1611c4526dbcc8a5e01f6455d2592c594	We describe a 7-month-old male child with Silver-Russel syndrome (@DISEASE$) phenotype, presented with two major clinical features: low birth weight, @PHENOTYPICFEATURE$, and minor features, such as macrocephaly, clinodactyly, essential for the diagnosis of SRS.	has_symptom
+3df8a6e8ef4f2437383d38a46271ea839057a6e5	We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of @DISEASE$.	false
+e7bd2005ffa9a0c998bfc3ce20c870ed3b3c3289	We describe a 7-month-old male child with @DISEASE$ (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of SRS.	false
+35f7fc844373ec48f847114f063e3f823410659c	We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, @DISEASE$, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of SRS.	false
+452f1cb671e1034b0ec9f92f62e1bc679d3cb85d	We describe a 7-month-old male child with Silver-Russel syndrome (@DISEASE$) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of SRS.	false
+ab5bd8bc3658046f8bbc72387d5b39b5c3044d15	There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (@DISEASE$), characterised by slow growth in utero leading to @PHENOTYPICFEATURE$ in adulthood.	has_symptom
+4c7eceab5b5094490bd6a3b17c40bbe076f32911	12q14 microdeletion syndrome: A family with @PHENOTYPICFEATURE$ and Silver-Russell syndrome (@DISEASE$)-like phenotype and review of the literature.	has_symptom
+2236f74ebe1a057d22e00c4448bf939824f82632	@PHENOTYPICFEATURE$ in @DISEASE$ can be treated by use of pharmacological doses of recombinant GH resulting in good short-term catch-up; sufficient information on the therapeutic effect in terms of final height is still missing.	has_symptom
+cf46fb829d52998aecebac868ab32b5a604b2172	Silver-Russell syndrome (@DISEASE$) is a very rare genetic disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	has_symptom
+1d72d13ab0b24222d4d9924d4c45fe688fba6e29	@DISEASE$ (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+b2c50ce78592d1c9ae36bd207bcbd81db71b3c11	Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, @DISEASE$, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+50a7d079d341b5cf32e33cac05b1b78a93f4d4d0	Silver-Russell syndrome (@DISEASE$) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+156c7bcd04fc921c43d46effb3ff24236a0b5380	Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by @DISEASE$, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+c7a5aeecd7a5dedebf4b3c08829737c71490e26e	Silver-Russell syndrome (SRS) is a very rare @DISEASE$ characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+f86b47f7921cbf3ee9aa0e2d13b879ebf67790a3	@DISEASE$ with @PHENOTYPICFEATURE$, dystonia-parkinsonism, and progressive neurodegeneration.	has_symptom
+c04decbe06481be9ed6ff1812223d7d5b379e6e3	X-linked agammaglobulinemia with @DISEASE$, dystonia-@PHENOTYPICFEATURE$, and progressive neurodegeneration.	false
+c8804d5d9addeb5a5e28325f4eef0dc1d7beb6a4	@DISEASE$ with hearing impairment, dystonia-@PHENOTYPICFEATURE$, and progressive neurodegeneration.	false
+890b5d52041bf274e93a595f57cb533a49954664	X-linked agammaglobulinemia with hearing impairment, @DISEASE$-@PHENOTYPICFEATURE$, and progressive neurodegeneration.	false
+0a7f8523a995affea2f747a30ec187f132f46365	Laboratory examinations revealed @DISEASE$, @PHENOTYPICFEATURE$, hypophosphatemia, and aminoaciduria, and FS was diagnosed.	has_symptom
+1d3b6df97d0d69604c64bc46e2e30623034a3343	Laboratory examinations revealed @DISEASE$, hypokalemia, @PHENOTYPICFEATURE$, and aminoaciduria, and FS was diagnosed.	false
+0e36b772d24bdef2c60b912767adc559e593d58a	Laboratory examinations revealed renal tubular acidosis, @DISEASE$, @PHENOTYPICFEATURE$, and aminoaciduria, and FS was diagnosed.	false
+8e5b35069c947a101b8dd9fd71c73a2320cfe4b6	@PHENOTYPICFEATURE$ and suspected @DISEASE$ associated with topical carbonic anhydrase inhibitor therapy in a cat.	has_symptom
+670d6faf822d0a4f9fa5f5e4c836a63ac0460b63	In six of eight patients with normokalemic or @PHENOTYPICFEATURE$ @DISEASE$, furosemide decreased urine pH and increased net acid and K excretion to levels not significantly different from control values.	has_symptom
+ac38f23bc90ec6f09d76021074286d0bfb2307df	Such treatments with vitamin D and alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had @DISEASE$ (type I), a disorder that is characterized by growth failure and, if left untreated, complicated by osteomalacia with pathologic fractures, @PHENOTYPICFEATURE$ muscle weakness and periodic paralysis, nephrocalcinosis leading to renal failure, and death.	has_symptom
+cd9ad5f11ccfd319ccb29b80d6c7b6fa937e9af2	Such treatments with vitamin D and alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had renal tubular acidosis (type I), a disorder that is characterized by growth failure and, if left untreated, complicated by osteomalacia with pathologic fractures, @DISEASE$ @PHENOTYPICFEATURE$ and periodic paralysis, nephrocalcinosis leading to renal failure, and death.	false
+77e005f7603e4f96f1025c376532066fdf03b8f2	Such treatments with vitamin D and alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had @DISEASE$ (type I), a disorder that is characterized by growth failure and, if left untreated, complicated by osteomalacia with pathologic fractures, hypokalemic muscle weakness and periodic paralysis, nephrocalcinosis leading to @PHENOTYPICFEATURE$, and death.	false
+e2c62af40bcd85ef433782ed0324c685b747dbfc	Such treatments with vitamin D and alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had renal tubular acidosis (type I), a disorder that is characterized by growth failure and, if left untreated, complicated by osteomalacia with pathologic fractures, @DISEASE$ muscle weakness and periodic paralysis, nephrocalcinosis leading to @PHENOTYPICFEATURE$, and death.	false
+3f5be45d5cbefac528117d4be181e574a94f5101	Such treatments with vitamin D and alkalinization with sodium bicarbonate and sodium citrate suggest the plausible speculation that Tiny Tim had @DISEASE$ (type I), a disorder that is characterized by growth failure and, if left untreated, complicated by osteomalacia with pathologic fractures, hypokalemic @PHENOTYPICFEATURE$ and periodic paralysis, nephrocalcinosis leading to renal failure, and death.	false
+98149dfd1762af461ed69af3b60b833a271397cd	Regional anesthesia is safe and effective for lower limb orthopedic surgery in patient with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a449922c4a73394468c572a1f8dab867b5484148	@DISEASE$ (RTA) is a rare disease characterized by a normal serum anion gap, sustained metabolic acidosis, low concentration of plasma bicarbonate, variable hyperchloremia and @PHENOTYPICFEATURE$ and conserved glomerular filtration rate.	has_symptom
+25703c5f3e36b180e6f5b3006b8123fdb345695b	CONCLUSIONS This was a pSS patient with tubulointerstitial nephritis, diabetes insipidus, @DISEASE$, @PHENOTYPICFEATURE$, and nephrolithiasis, who was receiving symptomatic treatment for diabetes insipidus.	has_symptom
+db323e68ab959240f3b66b21acd727287a7857ac	In cases of prolonged and supratherapeutic ingestion of ibuprofen, @DISEASE$ (RTA) with profound @PHENOTYPICFEATURE$ may occur.	has_symptom
+0ead34ba8c1df72a77656687e167b41b5806df2b	Primary Sjogren's Syndrome presenting as quadriplegia and respiratory involvement due to @DISEASE$ causing @PHENOTYPICFEATURE$ is rare and the significance of managing such case with potassium citrate instead of potassium chloride is highlighted.	has_symptom
+5b96cca8e6b9d2ed4c68ebc505b064b38a5b4d1e	The child had findings in common with those seen in @DISEASE$ including: microcephaly, @PHENOTYPICFEATURE$, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay.	has_symptom
+b1365fd1a05366bb4943e1b8cba2ea64cc3b8255	The child had findings in common with those seen in 18q- syndrome including: @PHENOTYPICFEATURE$, @DISEASE$, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay.	false
+93cf077492c07cfe5221da68eca0b57a325fb48e	The child had findings in common with those seen in @DISEASE$ including: @PHENOTYPICFEATURE$, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay.	false
+ad9fd46acc73a98cce9d6edba26b38e5e3b32f65	The child had findings in common with those seen in 18q- syndrome including: @PHENOTYPICFEATURE$, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, @DISEASE$, and developmental delay.	false
+23c865650f30a25a8dc9f2d1291188a8da2a4f76	Ophthalmologic examination revealed @PHENOTYPICFEATURE$ and old vascular sheathing in the right eye and blurred disc margin, macular exudation, flame shaped hemorrhages, retinal vascular sheathing and multiple aneurysms at arterial bifurcation sites in the left eye, findings compatible with @DISEASE$.	has_symptom
+7eef5af10795277cb94d8344c9854d0c02417565	There were 274 patients with @PHENOTYPICFEATURE$; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, @DISEASE$).	has_symptom
+02dbbdc4644603344e45670558a46e125e785f71	There were 274 patients with narcolepsy; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical @PHENOTYPICFEATURE$ cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, @DISEASE$, Niemann-Pick disease type C).	false
+1649d739db23c3e3f93ccaaae0288012eebe8c2e	There were 274 patients with narcolepsy; @PHENOTYPICFEATURE$; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, @DISEASE$, Niemann-Pick disease type C).	false
+1ce078c2ef0be25080d64dd27db9fb6653c9232f	There were 274 patients with @DISEASE$; @PHENOTYPICFEATURE$; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, Niemann-Pick disease type C).	false
+d46857ec1fbd6fd9ddfea26f9051814081af0852	There were 274 patients with narcolepsy; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical @PHENOTYPICFEATURE$ cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, @DISEASE$, depression, Prader-Willi syndrome, Niemann-Pick disease type C).	false
+3ce12071b54dedf9800855360e5dc8f10c64e3cf	There were 274 patients with narcolepsy; @PHENOTYPICFEATURE$; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, @DISEASE$).	false
+0f6074c3d63367ee19dd8c57d1124ac0fd3ee754	There were 274 patients with @DISEASE$; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical @PHENOTYPICFEATURE$ cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, Niemann-Pick disease type C).	false
+91f3fdad55f05f218a1c6c963880b61996d095f2	There were 274 patients with narcolepsy; @PHENOTYPICFEATURE$; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, @DISEASE$, depression, Prader-Willi syndrome, Niemann-Pick disease type C).	false
+fec3bd6340b19d87efe9238b5605e78216284012	There were 274 patients with narcolepsy; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical @PHENOTYPICFEATURE$ cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, @DISEASE$).	false
+3b5fd565ba9290f1548b9d7d51795f2cc2d56077	These abnormal ABR findings reflect the presence of @PHENOTYPICFEATURE$ associated with the cochlear component in @DISEASE$.	has_symptom
+4a6d8d34add3d3b2929f09f8364a2cc70e8c0174	@PHENOTYPICFEATURE$ and double aortic arch associated with @DISEASE$.	has_symptom
+19ce3f67e8da77431711dec344c1e887d41f0b77	@PHENOTYPICFEATURE$ with unilateral absence of the left proximal pulmonary artery and @DISEASE$.	has_symptom
+2ff55cfb4b714a25160c323386076b78fde95a78	Familial third and fourth pharyngeal pouch syndrome with @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+52c59c8d45680056444dc1aced410806ee248a88	The fetus was subsequently diagnosed with @PHENOTYPICFEATURE$ and a hypoplastic thymus, consistent with @DISEASE$.	has_symptom
+5ae546f2fdb0f2d6b6833664ab0ad28a9298c481	@PHENOTYPICFEATURE$ associated with double aortic arch in a patient with @DISEASE$: A rare case report.	has_symptom
+2a86604ac44d29a0f3530976f4ed2097662c34df	@DISEASE$ with @PHENOTYPICFEATURE$: report of one case.	has_symptom
+df7f8e0a2d0c968301349a527b6925a44361aec5	We report the 1st known case in which @PHENOTYPICFEATURE$ and double aortic arch have been associated with @DISEASE$.	has_symptom
+41e4fc8f8f50da3dd0e22118406a29aa0474bbbb	An association with @DISEASE$, frequently noted with persistent @PHENOTYPICFEATURE$ (TA) and IAA type B, was not seen.	has_symptom
+81d4c6d9efbeaba39ed68c9e1a321d45cbd32518	Conversely, of those patients with interrupted aortic arch, 68% had @DISEASE$, as did 33% of all patients with @PHENOTYPICFEATURE$.	has_symptom
+b57f76b3651a1be73aab42992160d07f3882cfb9	We describe a 13-year-old girl with @DISEASE$ and @PHENOTYPICFEATURE$ who underwent an uneventful truncal valve replacement.	has_symptom
+75a129cb78a3fa0297082fb8647e94d8c9cf916a	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is an autosomal recessive form of cerebellar ataxia.	has_symptom
+fc24dcf44e7f0113b92b8498d621818872e4056a	Early-onset ataxia with @DISEASE$ and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of @PHENOTYPICFEATURE$.	false
+02c4687b57188c737dfa73eb5feb4ed80335ee89	Early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is an autosomal recessive form of cerebellar ataxia.	false
+a5eb910556629f1f107d2811b4794b49b5449e26	Early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of cerebellar ataxia.	false
+4af40f2e29a10121d5394d9a42af2f286e57ba5c	Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is an autosomal recessive form of @PHENOTYPICFEATURE$.	false
+433d50deca2802709feae0405b5ab9df753dc16a	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	has_symptom
+f0ef73aa9a0f9802c8206faf694eee0c9392a793	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/@DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+7da52d6abbc5b66b44cd1ec46322dc80805c91c0	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @DISEASE$ and @PHENOTYPICFEATURE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+f2e54ca9f296aad7add9aa5abde2679f772d7332	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+1aceaeacecab98512e60ea4cdef28e62cdcc23de	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+b594d2623bcb2b973ee5754fa7a5c748561fcb05	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH), also called @DISEASE$.	has_symptom
+32fd1b7e9f480f1b35fe346ee96d733c15f4432d	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH), also called @DISEASE$.	false
+aa2691e204e34f5637fb6621a978152d1492ee28	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with @DISEASE$ and @PHENOTYPICFEATURE$ (EAOH), also called ataxia with oculomotor apraxia type 1.	false
+3e611e9993afce7443cef6a4ea99e20ddf0f16c3	Mutations of the aprataxin (APTX) gene cause early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1.	false
+f17e5cba0dd58d8ffcff8dce288741dd4a43cfbc	Mutations of the aprataxin (APTX) gene cause early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH), also called @DISEASE$.	false
+b0d43a4f902c11e220cd683764131ed4223be2aa	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/ @DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	has_symptom
+407be5c57a429f1d82ed674b8591d4e1a90d9e0f	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/ @DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+fd423814ea78ae902e41cb578980183d801f9a45	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @DISEASE$ and @PHENOTYPICFEATURE$/ ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+e7ec08a17449e60c10b9ba29c5a07e1ae2107d9b	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/ @DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+66ef742f2d5b51522fab5258c658d06f36632d58	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia/ ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+150e60a4381dd9278cf8d7c429884ac0ecab6be3	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is caused by mutations in the gene encoding aprataxin (APTX).	has_symptom
+d4218040429f1309153617c521334d6a3d2ca3df	Early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/@DISEASE$ (AOA1) is caused by mutations in the gene encoding aprataxin (APTX).	false
+24ba730d3c4d34ed9c8818a6e4f2b4e9ac7c0b12	Early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is caused by mutations in the gene encoding aprataxin (APTX).	false
+bb314a15c118de9c50ad8758c61ccc5f0abb5728	Aprataxin is the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	has_symptom
+5d530816c7b09eefde002f835e85ef532809dc52	Aprataxin is the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+6a4a011342dcd5fede8139b158d98019ba1ff7d6	Aprataxin is the causative gene product for early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+61d97c047c9d67bcac74988bf8ca09aabfe8e8d1	Aprataxin is the causative gene product for early-onset ataxia with @DISEASE$ and @PHENOTYPICFEATURE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+b3a7ee987c213c62993f2b08a85e790052579e6a	Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+5ec2e103d4af67fcec8b07286d17f36b2c99ebf4	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ @DISEASE$ (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by @PHENOTYPICFEATURE$ (OMA), which is an impairment of saccadic eye movement initiation.	has_symptom
+b7295d70575058ec2d10c76460afe7e356c53072	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/ @DISEASE$ (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	has_symptom
+248e2dd66338ed61b828dc20a3f77ca8cb0d4812	At least four disorders, @DISEASE$ (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+f1494d21533c1009b6ebe77dd45e079747093e16	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+eda70c8d01fa7783864af9e22ce79ade52ac99b2	At least four disorders, ataxia telangiectasia (AT), an @DISEASE$, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+06c93d45497102f5238b97e5ae7eb273adae425d	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and @DISEASE$, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+6604a164bd3d71466a049d3debc73403b1e93138	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ @DISEASE$ (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+a579d96beedacb548f2a4d0771256ebafeef49fa	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by @DISEASE$ (OMA), which is an impairment of saccadic eye movement initiation.	false
+da6f98dcbf31629962f83f2fe5a761c21775ab49	@DISEASE$ (HD) is an @PHENOTYPICFEATURE$ neurodegenerative disorder leading to progressive motor, cognitive and functional decline.	has_symptom
+bcfc7e4882b7c0769d6df6b31df05481f2f033c7	Huntington's disease (@DISEASE$) is an @PHENOTYPICFEATURE$ neurodegenerative disorder leading to progressive motor, cognitive and functional decline.	has_symptom
+54015e13bd7016455a41980f0a9cd49844fbf538	Clinical manifestations of @DISEASE$ included multiple caf?-au-lait spots, @PHENOTYPICFEATURE$, progressive impairment of vision and precocious sexual development.	has_symptom
+2377474fd070c03412d0760a873c92975d20c4ad	@DISEASE$ is characterized by cutaneous and @PHENOTYPICFEATURE$.	has_symptom
+326ddb906f1bd8ce11243417af4b39856caf6b54	Plexiform neurofibromatosis is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous @DISEASE$, CMS tumours and @PHENOTYPICFEATURE$.	has_symptom
+c16a658027694361a6c44ce2a1f293780a1217fe	Plexiform @DISEASE$ is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, CMS tumours and @PHENOTYPICFEATURE$.	has_symptom
+f13b3cac2a2e5abbf43e17ee345882bed7515c8e	Plexiform neurofibromatosis is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, CMS @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5bbae986676c91e1a4e0d0cd92691bb98c4f09d4	Plexiform @DISEASE$ is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, CMS @PHENOTYPICFEATURE$ and skeletal abnormalities.	false
+d6bc2a5b48179c92169c95552069bcb0c7ae7718	Plexiform neurofibromatosis is a @DISEASE$ characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, CMS @PHENOTYPICFEATURE$ and skeletal abnormalities.	false
+9a6ce6027beedfdc9647e2c3c516db4be1d33339	Plexiform neurofibromatosis is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, @DISEASE$ @PHENOTYPICFEATURE$ and skeletal abnormalities.	false
+f9aa84c5b4dd69765eb27bc2cf6f2677edf85b35	Plexiform neurofibromatosis is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous @DISEASE$, CMS @PHENOTYPICFEATURE$ and skeletal abnormalities.	false
+e3d86028926f4e3a3d7f9b150dd29e75f09e6733	@DISEASE$ is a heredofamiliar disorder that is associated with a variety of @PHENOTYPICFEATURE$ (mostly spinal deformities) in 10-50% of patients.	has_symptom
+7a74a296bcf686cde96149763f14c51c5161046c	The natural history and pathogenesis of the @PHENOTYPICFEATURE$ found in @DISEASE$ (NF1) are poorly understood, and the therapeutic options for these manifestations remain limited.	has_symptom
+3defc100a6992569f18b059745fe6bbef68b23b8	Diagnosis of NF1 was easy in four of our cases because of @DISEASE$, skin pigmentation and various @PHENOTYPICFEATURE$.	has_symptom
+3e83b1d72330d72127496a45d2227e7eb2a0cb96	@PHENOTYPICFEATURE$ in @DISEASE$ syndrome (NF1) are observed in ?50% of patients.	has_symptom
+a13892c0ae7e7cd29ff7ad5b3d42152f07c72f52	@PHENOTYPICFEATURE$ including osteoporosis and osteopenia occur frequently in both pediatric and adult @DISEASE$ (NF1) patients.	has_symptom
+5d589993d24324b02a441f61a572f1ed7bc1005e	Von Recklinghausen @DISEASE$ may present many @PHENOTYPICFEATURE$ as common features.	has_symptom
+af31c399811f1073358a00ad0ab79f785571814a	@PHENOTYPICFEATURE$ in @DISEASE$: approaches to therapeutic options.	has_symptom
+c18eef7d9f117f8beff531548ed1eb4fc1531100	In a series of 102 cases of neonatal @PHENOTYPICFEATURE$, the test has proven to be highly discriminative for hereditary @DISEASE$.	has_symptom
+c374563c3b920a62a8137a4e319104ebeeb4ed8b	Out of 3842 patients, 104 experienced a complicated course comprising @DISEASE$ and neurological complications, including @PHENOTYPICFEATURE$, aphasia, seizures and coma.	has_symptom
+55353a7145456419340dbb881cf3de80ef498048	Out of 3842 patients, 104 experienced a complicated course comprising @DISEASE$ and neurological complications, including cognitive impairment, aphasia, @PHENOTYPICFEATURE$ and coma.	false
+11e60b09836e83e7b919899be6d4a943abde4ffa	Out of 3842 patients, 104 experienced a complicated course comprising hemolytic uremic syndrome and neurological complications, including @DISEASE$, aphasia, @PHENOTYPICFEATURE$ and coma.	false
+aa85f7b3b5c21531cd9001bed0f00905ffe5ca4b	The @DISEASE$ is characterized by microcephaly, @PHENOTYPICFEATURE$, osteopoikilosis, weight deficiency, and learning disabilities.	has_symptom
+1faebeee9938b3ef9a2ac5e2065e891bbe486d4a	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, short stature, osteopoikilosis, weight deficiency, and learning disabilities.	false
+c16f170d21c01493fd28e6d75db9fd256530237e	The 12q14 microdeletion syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, osteopoikilosis, weight deficiency, and learning disabilities.	false
+28c491356bf410e370ab8d8184c0232a892dac6f	@DISEASE$ and @PHENOTYPICFEATURE$ with or without relative macrocephaly.	has_symptom
+7e2cc9c270cd87d74602cc21c78819921fbf6c53	The @DISEASE$ is a rare condition characterized by low birth weight, failure to thrive, @PHENOTYPICFEATURE$, learning disabilities, and osteopoikilosis.	has_symptom
+06a0703faf803a9b21bef14444d5467d601f1602	The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, learning disabilities, and osteopoikilosis.	false
+714ce7ba38aaefac8044e05d15c396e7f1cbc14e	The @DISEASE$ is a rare condition characterized by low birth weight, @PHENOTYPICFEATURE$, short stature, learning disabilities, and osteopoikilosis.	false
+a945845888f3ecb1d91f7ba34edac37d45cdc837	@DISEASE$: A family with @PHENOTYPICFEATURE$ and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.	has_symptom
+3045d7fc30261126d27d3f2f79ce66f32abb21cc	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders.	has_symptom
+7debf1a7d19d90e59a1da281577e2a526c275b34	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @DISEASE$, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+f87fd48b84a5d93729276e18ebd9493290f0142f	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and @DISEASE$.	false
+2948ebe696f5b64e9cb17604a0c998e6ab5b868b	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2cc1841e1049726a30c5281b2f74cd6e87490b2a	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+2018b06e99470a2c713ddcb4bc93e29ec011eb85	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+d73c85fb049170d5e773c0c1e5589882b6d8113c	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$.	false
+e29adfe1f4a7a9fa93bb92042be9cf5f7bcf41d2	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @DISEASE$, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+ce0e5fd66d4ec4f2aac2732d8fbeca429c703922	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+96109f3012a58a5c0967573bb96619c311a9ee88	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @DISEASE$, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	false
+3cd5d1bd61f517cb5c6f80f20527c0b4878e0fde	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	false
+dff34f4b9cdab81ce98920c854ec9e0fa357ea40	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+785d4c97d0fa1ad54fa1ec42fec73910a40d9637	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	false
+d91a859e00fdb095ac12b8f7214735ae299da99f	Autosomal-recessive neural crest syndrome with @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut, and deafness: @DISEASE$.	has_symptom
+9399a4922473e86953aa744b6f568200c36037e8	Autosomal-recessive neural crest syndrome with @DISEASE$, black lock, cell migration disorder of the neurocytes of the gut, and @PHENOTYPICFEATURE$: ABCD syndrome.	false
+acc83830f9b3153b08fa32f14e2e7033c86262ae	Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and @PHENOTYPICFEATURE$: @DISEASE$.	false
+8e89fb407bced5f23fef9942e3d34137efc54afd	@DISEASE$ is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness.	has_symptom
+e38d1d2d5e9b7b323e180b92da3efee8cec4fde6	ABCD syndrome is an autosomal recessive syndrome characterized by @DISEASE$, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and @PHENOTYPICFEATURE$.	false
+dc3f2b760e48698ce532764a5caad18b1499915b	ABCD syndrome is an autosomal recessive @DISEASE$ characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and @PHENOTYPICFEATURE$.	false
+a33a9cc37ca6edef51bdd520ec91a8d4084de571	ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (@DISEASE$ [HSCR]), and @PHENOTYPICFEATURE$.	false
+0e0f511b07dd73be055972e8b07ca2f6a8f1fb95	@DISEASE$ is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and @PHENOTYPICFEATURE$.	false
+3bac596d760e0cbbba9244ed3188c38164fa0208	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	has_symptom
+d0559a3234719600c3a2af7bf684cdbbfecc22a1	The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, @DISEASE$, @PHENOTYPICFEATURE$, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+9876029845f6215fe3c497111ec8150105a98474	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and @PHENOTYPICFEATURE$; however, the pathophysiology of this disease is poorly understood.	false
+65f788d055e0b94d569701f1090a8274957ad0e2	The major clinical features presented by MSUD patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, @DISEASE$, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+555b34b541af27e5bb224f392ac4fc88bf40e079	The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, @DISEASE$, seizures, coma, psychomotor delay, and @PHENOTYPICFEATURE$; however, the pathophysiology of this disease is poorly understood.	false
+c2f34b5035be79e18d15ef18d28c118a8761e40e	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+a9dc033c1587a07bb5390b2c0bcd77b4db395446	The major clinical features presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+98cf8176590141117054dad2bb1d8522675510b0	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, @PHENOTYPICFEATURE$, convulsions, coma, psychomotor delay, and mental retardation.	has_symptom
+ed825cf2a99e2d9a649172b3594494062713d3c4	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+a1ab95e04a7a7d8f514c8de166eeef55716c70fe	The main clinical symptoms presented by MSUD patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, @DISEASE$, convulsions, coma, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+6d19334018a87fbe804a3165d44a844b587aaebb	The main clinical symptoms presented by MSUD patients include ketoacidosis, @PHENOTYPICFEATURE$, opisthotonos, poor feeding, apnea, @DISEASE$, convulsions, coma, psychomotor delay, and mental retardation.	false
+067033f82b0d28594cbcb3a087754d60e1ebf856	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and mental retardation.	false
+499506100be63276f7a47da7dd3b5bb7779dea9c	She suffered from spinocerebellar @PHENOTYPICFEATURE$ (SCA) and, because of a family conflict, was living alone with a daughter who was diagnosed with maple syrup urine disease (@DISEASE$).	has_symptom
+ca833880830c2894f48ef961631394c12c77f2b0	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	has_symptom
+15dcf4f1dd32d835be8018378cea0e5dddb48bc7	The main symptomatology presented by MSUD patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, @DISEASE$, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+a8f2a547854a4057527a1954da3fb8ef49a5af3e	The main symptomatology presented by MSUD patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @DISEASE$, @PHENOTYPICFEATURE$, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+f9a94916ea27d5d5d9f08a13eb06e34e017955e2	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+dde76828549a664bf3d95621fa9182d5b51502e6	The main symptomatology presented by MSUD patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @DISEASE$, seizures, coma, psychomotor delay and @PHENOTYPICFEATURE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+0458b4a1217467548b62782d1ba65af8ce14cc03	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and @PHENOTYPICFEATURE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+522baf788c4f76ba077339f94c774ed3b94b73c7	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+3b7fba5a068ac96782ca8440974147fd2115e6d0	@DISEASE$ patients generally present ketoacidosis, poor feeding, @PHENOTYPICFEATURE$, coma, psychomotor delay, mental retardation and brain abnormalites.	has_symptom
+96f064c80f9c80601c27a46c130ef850e55a8b82	MSUD patients generally present ketoacidosis, poor feeding, @DISEASE$, coma, psychomotor delay, @PHENOTYPICFEATURE$ and brain abnormalites.	false
+167a651145fa7e2a369da7f25565d699328d3f60	@DISEASE$ patients generally present ketoacidosis, poor feeding, ataxia, coma, psychomotor delay, @PHENOTYPICFEATURE$ and brain abnormalites.	false
+4f794b40c599dd0b2a2496b80b0abd5fa6cf161d	The differential of acute and recurring @PHENOTYPICFEATURE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	has_symptom
+4ee3671c8a2374ee34eddb151084509080ce2e00	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and @DISEASE$.	false
+557a9d2e670dc1f39d40845879f8776055173a50	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+a500462817173bf6af13db09c6eb609920415a1a	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, @DISEASE$ (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+36c1373dcb0309cab7d74732b802e95fe145157c	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+8991b6786275d63c5588e41e900b2a33579a168e	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, @DISEASE$, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+f0dcb711168ddc1f3ee4d879dbb2be47a91a7548	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, @DISEASE$, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+c5d24f23bdfafd688784f97d822825b38c26e379	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+96ce6afe40ea6e1bf0be4ca13106aea79a7ccc43	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+7ffded346dcbcf4bd08ef11ae093787a50c7ed1d	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+b71c4245de23e69d751d53251d1289a3e3153b8b	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult @DISEASE$, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+166dd1e23c8aec7968a555793c153bd74d2808cf	The differential of acute and recurring @DISEASE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+5bc31c8683038b963382bcbcc9de82b8eabafe39	The pathogenesis of @DISEASE$, rheumatic heart disease, Sydenham @PHENOTYPICFEATURE$, and other autoimmune sequelae is related to autoantibodies that are characteristic of autoimmune diseases and result from the immune responses against group A streptococcal infection by the host.	has_symptom
+65b83c571c221bd4055f46eba58dad39348790bc	The evolution of @PHENOTYPICFEATURE$ associated with @DISEASE$ is poorly characterized because of the small number of patients.	has_symptom
+9433dfa6ac517595260b7ba7c3bd204b11b6a7f1	@DISEASE$ (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including @PHENOTYPICFEATURE$, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death.	has_symptom
+aedaac026a09616196ac728d580be74c8060b90d	@DISEASE$ is a rare but devastating neurologic disease that usually presents in early infancy with @PHENOTYPICFEATURE$ and alterations in muscle tone.	has_symptom
+aac443106ac84074d3983bf98c64cf28bea6602e	Three patients with @DISEASE$ are studied who manifested intractable @PHENOTYPICFEATURE$ and severe hypotonia in the immediate postnatal period with an unknown diagnosis, despite extensive workup.	has_symptom
+84415365a23ad4044dddd0824104ee674400bf12	Isolated sulphite oxidase deficiency (@DISEASE$) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable @PHENOTYPICFEATURE$ (often of prenatal onset) and severe neurological abnormalities.	has_symptom
+5d0a3b0c296be13766a6691eb229774fb22642d0	Isolated sulphite oxidase deficiency (@DISEASE$) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe @PHENOTYPICFEATURE$.	false
+21d7e26b4c361354fc49e874df10430822dbdc11	Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable @DISEASE$ (often of prenatal onset) and severe @PHENOTYPICFEATURE$.	false
+a14127c189ecab424a901c039b43ffa4dcfc3149	Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive @DISEASE$, which may present at birth with intractable seizures (often of prenatal onset) and severe @PHENOTYPICFEATURE$.	false
+1cdf5239a4de298512f0723b777c3475a6e9f0de	Based upon the clinically evident pyridoxine-responsive @PHENOTYPICFEATURE$ in these 2 siblings, we recommend considering pyridoxine supplementation to patients affected with molybdenum cofactor or @DISEASE$.	has_symptom
+8bca0a37cd0a5389c8ad7b43eb5b3575ad688ce3	Molybdenum co-factor deficiencies and @DISEASE$ are rare autosomal recessively inherited diseases characterized by severe psychomotor impairment, intractable @PHENOTYPICFEATURE$, dislocated lens and dysmorphic facial features.	has_symptom
+6c6a6636ef13b8a4745bbc90e3f3bfbd12187d66	This expands the phenotypes associated with @DISEASE$ and also should caution clinicians to not assume that all abnormal movements are @PHENOTYPICFEATURE$.	has_symptom
+cf8545850067b6dabf970f406c54c95165a012af	In addition, patients with @DISEASE$, serine deficiency, or GABA-related disorders may also present with different types of @PHENOTYPICFEATURE$.	has_symptom
+d80bf590ccaf5745057477252dbebf077934ee04	@DISEASE$ is a rare autosomal recessive disease, characterized by severe neurological abnormalities, @PHENOTYPICFEATURE$, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy.	has_symptom
+87f3c30aa87a1584b5341a3ebb94365265de4730	@DISEASE$ is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, @PHENOTYPICFEATURE$, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+35fbffcff32c6fa3a53590b81ac8e7d1fd44f5fe	Isolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+0d993fd1cdeaac41e5db420fd2f4e8ae759c0849	Isolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+f7bfc2acfdb479b3355973f7bed97119f8e78fdf	Isolated sulfite oxidase deficiency is a rare @DISEASE$, characterized by severe @PHENOTYPICFEATURE$, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+07179cd7e64f4f636320e072d905cebee136b129	Isolated sulfite oxidase deficiency is a rare @DISEASE$, characterized by severe neurological abnormalities, seizures, @PHENOTYPICFEATURE$, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+8168d7f1770c95d1ef00adf380bfae2b7a5c3cc5	@DISEASE$ is a rare autosomal recessive disease, characterized by severe @PHENOTYPICFEATURE$, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+c2f34b5035be79e18d15ef18d28c118a8761e40e	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	has_symptom
+3bac596d760e0cbbba9244ed3188c38164fa0208	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+9876029845f6215fe3c497111ec8150105a98474	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and @PHENOTYPICFEATURE$; however, the pathophysiology of this disease is poorly understood.	false
+ff3347a931e2777b12970ee5c31ee70f6bbed9c7	The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @DISEASE$, coma, psychomotor delay, and @PHENOTYPICFEATURE$; however, the pathophysiology of this disease is poorly understood.	false
+7abc8bf130a9c7bde90a458f3cc208c2fb90571a	The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, @DISEASE$, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+a9dc033c1587a07bb5390b2c0bcd77b4db395446	The major clinical features presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+7aae0c1c8d27952a2d286f6f2c03128bb870c813	The major clinical features presented by MSUD patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, @DISEASE$, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+c1c01c2707ba4212dcf1b5bb27bea48ad9c7f6fa	Majority of the patients with @DISEASE$ had developmental delay/intellectual disability (88%), speech delay (69%), and @PHENOTYPICFEATURE$ (65%).	has_symptom
+70dccfd68bf441c3ea770ddcf5b75919ca267add	Majority of the patients with @DISEASE$ had developmental delay/@PHENOTYPICFEATURE$ (88%), speech delay (69%), and seizures (65%).	false
+0abb98558c0114e88126f0fb6633a583ec71335a	Majority of the patients with MSUD had developmental delay/intellectual disability (88%), @PHENOTYPICFEATURE$ (69%), and @DISEASE$ (65%).	false
+3390a6187239481a40f29875a0a058a853e73fa5	Majority of the patients with @DISEASE$ had developmental delay/intellectual disability (88%), @PHENOTYPICFEATURE$ (69%), and seizures (65%).	false
+32f807b647c262386ba45b58f4a17ebb961e6e1a	Majority of the patients with MSUD had developmental delay/@PHENOTYPICFEATURE$ (88%), speech delay (69%), and @DISEASE$ (65%).	false
+f9a94916ea27d5d5d9f08a13eb06e34e017955e2	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	has_symptom
+ae722af07234ab80eae3482ef4a137fa0045cfa0	The main symptomatology presented by MSUD patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @DISEASE$, coma, psychomotor delay and @PHENOTYPICFEATURE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+f366e467831ab7a75f376f564c3289ca9a43f12a	The main symptomatology presented by MSUD patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, @DISEASE$, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+0458b4a1217467548b62782d1ba65af8ce14cc03	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and @PHENOTYPICFEATURE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+522baf788c4f76ba077339f94c774ed3b94b73c7	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+d2560eb22eb411cc0c18b54f8a29b84664090989	The main symptomatology presented by MSUD patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, @DISEASE$, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+ca833880830c2894f48ef961631394c12c77f2b0	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+a5ac5d83db04088ecece964fbcd301ff79be4dcb	In patients with classical maple syrup urine disease (@DISEASE$), @PHENOTYPICFEATURE$ commonly occur in the neonatal stage.	has_symptom
+aafea41d1968751c2102651daf80a082c0d06aef	@DISEASE$ (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by @PHENOTYPICFEATURE$, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities.	has_symptom
+2c791df1423cd87535afd11854e2fa0a6659d53d	Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by @DISEASE$, cerebellar brain malformations, @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+3f6db2239ee216f3365e0a59a15ed1f0ad239b70	@DISEASE$ (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+f27d4d9237b08c5ae86bb12aaa9aa253b02e62f0	Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar @DISEASE$, @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+d1cf3cd46977799e1789f7cbfc53723d7790005d	Ritscher-Schinzel syndrome (@DISEASE$)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+e6e39d78193229da740752221d80eb331e4ec997	@DISEASE$ (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (@PHENOTYPICFEATURE$, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor delay.	has_symptom
+917634d398dc144c52dc24779be3cd0d530b65bf	We present clinical and neuropathological findings in a female infant with @DISEASE$ (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), @PHENOTYPICFEATURE$, and multiple nonskeletal anomalies.	has_symptom
+ecdb5949ddec5916a1c7c296bc31115bb7558bea	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had @PHENOTYPICFEATURE$, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	has_symptom
+dce04a97c2dee474ee84dc940f31b97305fa6700	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, @PHENOTYPICFEATURE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+9e40ba3bc5a95254ab9a423e72d339d9281da726	In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had @DISEASE$, wide cranial sutures, @PHENOTYPICFEATURE$, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+65d360ff691b4357ce6466232f3c71a8fd0620bb	In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had @DISEASE$, wide cranial sutures, prominent eyes, @PHENOTYPICFEATURE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+d7584d450558637f25b755920c081ee037eb174c	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, @PHENOTYPICFEATURE$, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+6476ac50d856d4bf3a854f60b467dd2deee64b66	Familial @DISEASE$ (IBGC, Fahr disease) is an inherited neurologic condition characterized by basal ganglia and extra-basal ganglia @PHENOTYPICFEATURE$, parkinsonism, and neuropsychiatric symptoms.	has_symptom
+ca97308ef712b56f07cca6ea681d574c9c3b4612	@DISEASE$ (IBGC) is characterized by @PHENOTYPICFEATURE$ and a wide variety of neurological and psychiatric symptoms.	has_symptom
+971e42c94b96c57dbfccdeaef9f8ea259d2deca8	@DISEASE$ (IBGC), also known as Fahr disease or primary familial @PHENOTYPICFEATURE$ (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms.	has_symptom
+8d21d7efe840563bb3908eb49c7658f7189b17be	@DISEASE$ (IBGC) is characterized by @PHENOTYPICFEATURE$ and a wide variety of neurologic and psychiatric symptoms.	has_symptom
+2b486c55a0ba43c5973d905fb6b2655b252238de	Causative genes in patients with @DISEASE$ (IBGC) (also called primary familial @PHENOTYPICFEATURE$ (PFBC)) have been reported in the past several years.	has_symptom
+57630b87c2bfc992173d0cd87f0e511a5b8151df	@DISEASE$ (IBGC) is a rare neuropsychiatric disorder characterized by bilateral and symmetric @PHENOTYPICFEATURE$.	has_symptom
+cea35f5f3b111a5ad7b096e998ed6751a422884e	Linkage analyses of families with primary familial @PHENOTYPICFEATURE$ (formerly @DISEASE$ [IBGC]) identified 3 candidate loci (IBGC1-3).	has_symptom
+c3122a05cc04e466d4055e76f2e01d531c4edbed	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder that has been genetically linked to autosomal dominant mutations in the sodium-dependent phosphate co-transporter, SLC20A2.	has_symptom
+a8f0bf6125e06bc72a2440dfcf19fe09f02f5a1f	@DISEASE$ (IBGC) is a rare neurodegenerative disorder characterized by symmetric @PHENOTYPICFEATURE$ deposition.	has_symptom
+7042bee0124e70ee25036aafcbb0657d017d78b3	@DISEASE$ (IBGC) is a syndrome in which bilateral @PHENOTYPICFEATURE$ occurs despite the absence of abnormal calcium metabolism.	has_symptom
+ec53f1bd066f94ed384ba28b71d478ab4d198b29	The siblings both possess Axenfeld-@DISEASE$ (ARA), @PHENOTYPICFEATURE$, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced translocation.	has_symptom
+04c432c7f3a0bdbac8fcabf6b8779f49f516d58f	The siblings both possess Axenfeld-Rieger Anomaly (ARA), @DISEASE$, clinodactyly, and @PHENOTYPICFEATURE$, but otherwise vary in the phenotypic manifestations of this unbalanced translocation.	false
+e80112378a8d146d0f2d5e80a10b03a64d0d9411	The siblings both possess Axenfeld-@DISEASE$ (ARA), hypertelorism, clinodactyly, and @PHENOTYPICFEATURE$, but otherwise vary in the phenotypic manifestations of this unbalanced translocation.	false
+8998841840c0ab32d4c2327092ce47b346a9d7f3	An ARS variant has been described in two familial cases of Axenfeld-@DISEASE$ (ARA) featuring specific extra ocular manifestations-@PHENOTYPICFEATURE$, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses.	has_symptom
+7d46e8ebc40f44245b2cb88b0234f8dd8786c1e2	An ARS variant has been described in two familial cases of Axenfeld-@DISEASE$ (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial @PHENOTYPICFEATURE$, hydrocephaly, psychomotor delay and flattened femoral epiphyses.	false
+8153d28f7e49d8fd83bc59f47617070b4aed7ca0	An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-@DISEASE$, midface hypoplasia, mild sensorial @PHENOTYPICFEATURE$, hydrocephaly, psychomotor delay and flattened femoral epiphyses.	false
+fff493f10d5382088b1a386dbff34bbfc02cb0de	An ARS variant has been described in two familial cases of Axenfeld-@DISEASE$ (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, @PHENOTYPICFEATURE$, psychomotor delay and flattened femoral epiphyses.	false
+58e76cf5e8f77c0d228599f6abc14256e332e2b5	An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-@DISEASE$, midface hypoplasia, mild sensorial deafness, @PHENOTYPICFEATURE$, psychomotor delay and flattened femoral epiphyses.	false
+9c05574d748db6682b71fc718dbff22bb46531cb	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/@DISEASE$, @PHENOTYPICFEATURE$ and deafness with deletions of 6p25.	has_symptom
+e889c68cc95d4aa7befc82677e74c179360a4557	Characteristics correlating with specific regions are: short neck, clinodactyly or @PHENOTYPICFEATURE$, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris @DISEASE$/Rieger anomaly, hypertelorism and deafness with deletions of 6p25.	false
+c7e7944a50cf6e510313a57a2226fb2dd9770e7f	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris @DISEASE$/Rieger anomaly, hypertelorism and @PHENOTYPICFEATURE$ with deletions of 6p25.	false
+ff91fff996243543f08ba74ffcbe8bb847583484	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/@DISEASE$, hypertelorism and @PHENOTYPICFEATURE$ with deletions of 6p25.	false
+dd5c617a5f910c819f2f729c3c9da7d1c4407841	Characteristics correlating with specific regions are: short neck, clinodactyly or @PHENOTYPICFEATURE$, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, @DISEASE$ and deafness with deletions of 6p25.	false
+6978ac76ac8a1e47740f36e88a84181079bf871c	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and @PHENOTYPICFEATURE$/iris coloboma/Rieger anomaly, @DISEASE$ and deafness with deletions of 6p25.	false
+3877e35ea17667277c31de730e146c4da31bf6bb	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, @DISEASE$ and @PHENOTYPICFEATURE$ with deletions of 6p25.	false
+b7399cea1ed6863a05bd62a8aca0f38ccd6b8778	Characteristics correlating with specific regions are: short neck, clinodactyly or @PHENOTYPICFEATURE$, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/@DISEASE$, hypertelorism and deafness with deletions of 6p25.	false
+ac949dd29b11cddef922403e889e19e9da901177	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and @PHENOTYPICFEATURE$/iris @DISEASE$/Rieger anomaly, hypertelorism and deafness with deletions of 6p25.	false
+76e1e6117c1fdc9ef41b68d058efead61ba33bc5	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and @PHENOTYPICFEATURE$/iris coloboma/@DISEASE$, hypertelorism and deafness with deletions of 6p25.	false
+7d5022f6bafdc9e5a71dad950da9050f2e74fe4a	Axenfeld-@DISEASE$, @PHENOTYPICFEATURE$, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).	has_symptom
+938abd5820d371266348023cbaa62d8dabd4debc	Axenfeld-@DISEASE$, hypertelorism, clinodactyly, and @PHENOTYPICFEATURE$ in sibs with an unbalanced translocation der(6)t(6;8).	false
+ea03fb5bd90f9013f6ad276bcd0b22dc38e8a079	Axenfeld-Rieger anomaly, @DISEASE$, clinodactyly, and @PHENOTYPICFEATURE$ in sibs with an unbalanced translocation der(6)t(6;8).	false
+b726d1defa524520bff97b9a6dd2df73f8e912d3	TPP1 mutations have been identified in patients with variable phenotypes such as @DISEASE$ (LINCL), juvenile neuronal ceroid lipofuscinosis (JNCL), and spinocerebellar @PHENOTYPICFEATURE$ 7.	has_symptom
+75f26db7cf3764a49c70ed4d2a7f8462e6c41839	@DISEASE$ should be considered in patients with polydactyly, retinitis pigmentosa and @PHENOTYPICFEATURE$.	has_symptom
+b9dbf32a8ebd6229528f2715d40508fb7353eb45	@DISEASE$ should be considered in patients with @PHENOTYPICFEATURE$, retinitis pigmentosa and renal failure.	false
+e41810a19caf55b95a213044ba3ccfcfa98207f3	Bardet-Biedl syndrome should be considered in patients with @PHENOTYPICFEATURE$, retinitis pigmentosa and @DISEASE$.	false
+df18c6cf4e62aa872d25aefadfb90b3ec160dc43	Bardet-Biedl syndrome should be considered in patients with @PHENOTYPICFEATURE$, @DISEASE$ and renal failure.	false
+e3667f37dd8f8f565198a17a7f341d949343c296	Bardet-Biedl syndrome (@DISEASE$) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, obesity, mental retardation, hypogonadism, retinopathy, and @PHENOTYPICFEATURE$.	has_symptom
+03747912025bb576f23928e74f3d4e5e46c98cb4	@DISEASE$ (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, obesity, mental retardation, hypogonadism, retinopathy, and @PHENOTYPICFEATURE$.	has_symptom
+ab55223acdf75c3d0f62065f8e56694fdde15674	Bardet-Biedl syndrome (@DISEASE$) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, @PHENOTYPICFEATURE$, mental retardation, hypogonadism, retinopathy, and renal failure.	false
+fc357698202735d0d677356d44eda20338d1895b	Bardet-Biedl syndrome (@DISEASE$) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, obesity, @PHENOTYPICFEATURE$, hypogonadism, retinopathy, and renal failure.	false
+2f0ad3a3b357b512bf2d3453793963bc8a82da30	@DISEASE$ (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by @PHENOTYPICFEATURE$, obesity, mental retardation, hypogonadism, retinopathy, and renal failure.	false
+2de75fda2111fbd1797c53e568ed9862f2305271	@DISEASE$ (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, @PHENOTYPICFEATURE$, mental retardation, hypogonadism, retinopathy, and renal failure.	false
+230f1543cb4b40c0c29540440c0b047addc1deb1	Bardet-Biedl syndrome (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, obesity, @PHENOTYPICFEATURE$, hypogonadism, retinopathy, and @DISEASE$.	false
+5c22e4791e25deb9869a5f1cce2d007038850402	@DISEASE$ (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, obesity, @PHENOTYPICFEATURE$, hypogonadism, retinopathy, and renal failure.	false
+11462d25dc8a28fe3fd251df900da701d927ad75	Bardet-Biedl syndrome (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by @PHENOTYPICFEATURE$, obesity, mental retardation, hypogonadism, retinopathy, and @DISEASE$.	false
+227d102c6ae6fc9d00eee00ba94a7eb205caeff0	Bardet-Biedl syndrome (@DISEASE$) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by @PHENOTYPICFEATURE$, obesity, mental retardation, hypogonadism, retinopathy, and renal failure.	false
+5e4bd0f4dfe1476b20e09b497895409980491969	Bardet-Biedl syndrome (BBS) is a rare, heterogeneous, autosomal recessive condition, primarily characterized by polydactyly, @PHENOTYPICFEATURE$, mental retardation, hypogonadism, retinopathy, and @DISEASE$.	false
+28635de96574bfb5b236b27429eeca4fc0490ba3	To describe a case of @DISEASE$ involving @PHENOTYPICFEATURE$ and retinal dystrophy.	has_symptom
+ea8b8a180e50b6760b36a7f3381f05cc9c11a008	The patient with vaginal atresia (@DISEASE$) experienced deep vein thrombosis, @PHENOTYPICFEATURE$ and sepsis, resulting in death.	has_symptom
+7d4e402e1069f8352f749b28d58214f08695c70c	Low protein diet and/or obesity control may slow the progression of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+68030c43d09157825b3038944ed09a640835a9f7	Low protein diet and/or @PHENOTYPICFEATURE$ control may slow the progression of renal failure in patients with @DISEASE$.	false
+ddc7eace46cfbe79fba646701729cfa0f2f94b16	Low protein diet and/or @PHENOTYPICFEATURE$ control may slow the progression of @DISEASE$ in patients with BBS.	false
+217337a30cf33e81d54b7879493f78573a0d1268	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and @PHENOTYPICFEATURE$.	has_symptom
+a58e92e5efaa6c7bd07017ed54a24e461d931cd6	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and @PHENOTYPICFEATURE$.	has_symptom
+b70ee8c639219fbf346ca2ef28337c8fe37e66f9	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, hypogonadism and renal failure.	false
+7b0188860e8793d06e5c01243be5178f672c6c76	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, @DISEASE$ and renal failure.	false
+20cc11a2b1e02defe41f80aaf6d95d9261ab942f	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable @PHENOTYPICFEATURE$, pigmentary retinopathy, polydactyly, mental retardation, @DISEASE$ and renal failure.	false
+ae16686dbc8c76e390ea474b050e9406be72ded2	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, hypogonadism and @DISEASE$.	false
+fabf06f84d79de146edc3707685ed70f1ed64584	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, hypogonadism and renal failure.	false
+15278bbc4d91383daab834dfd238d02e2a5033e8	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, hypogonadism and @DISEASE$.	false
+9f20511a1b8e5e6c83fc63ce5d2e6e78c4123618	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by variable @PHENOTYPICFEATURE$, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure.	false
+a585a344b0641fff33a3b568ab56c25c444b1e4a	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable @PHENOTYPICFEATURE$, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and renal failure.	false
+179533a13700f6a7f9c9f942bd7914edd62184e2	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, hypogonadism and renal failure.	false
+d6206a55971e32a65d19703864aa1c0152dd6d07	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, hypogonadism and renal failure.	false
+17e56debb5fdd099bb746a440c460bb061b18327	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, @DISEASE$ and renal failure.	false
+3ee221f65c2fba6b91943bb4839446db165d6018	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by variable @PHENOTYPICFEATURE$, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism and @DISEASE$.	false
+980c5c53039c618689918201df76311a18ff0935	A case of @DISEASE$ (BBS) with kidney involvement and @PHENOTYPICFEATURE$ is reported.	has_symptom
+b54c653bad0ad1f518d65ac48a0d15aa53cfd56e	A case of Bardet-Biedl syndrome (@DISEASE$) with kidney involvement and @PHENOTYPICFEATURE$ is reported.	has_symptom
+589025fd0c10fd74c61bd5a562c69fe7ef36655a	@DISEASE$ (BBS) is a rare cause of @PHENOTYPICFEATURE$ requiring renal replacement therapy.	has_symptom
+6c738a349e9c23cf01c9b91edd26a499933fa4a2	Bardet-Biedl syndrome (@DISEASE$) is a rare cause of @PHENOTYPICFEATURE$ requiring renal replacement therapy.	has_symptom
+3b16501071ed1a104827479a81c53b1fedfe876d	The combination of PUV and @DISEASE$ is a rare condition that caused this early onset of @PHENOTYPICFEATURE$ and inappropriate obesity guided us to the diagnosis.	has_symptom
+7e4e9231a847624801d0dfae39763bb23dd1b56c	The combination of PUV and @DISEASE$ is a rare condition that caused this early onset of renal failure and inappropriate @PHENOTYPICFEATURE$ guided us to the diagnosis.	false
+8c57d59526d66be67801da2b62a7b2a7f96dfadd	The combination of PUV and BBS is a rare condition that caused this early onset of @DISEASE$ and inappropriate @PHENOTYPICFEATURE$ guided us to the diagnosis.	false
+7eaca62f8a6633a62796deda2366072956be23e3	Although pediatricians have more opportunity to diagnose the syndrome, nephrologists are important during the treatment, since @PHENOTYPICFEATURE$ is the main cause of death among @DISEASE$ patients.	has_symptom
+ae9c33a8109c97b557d2b2047afbd507282387dc	The presence of chorea in @DISEASE$ is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, @PHENOTYPICFEATURE$ and diffuse brain atrophy.	has_symptom
+72ee80b7708b5dad3a835de1f96c59e5fd836c5e	The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of @DISEASE$, especially in children with psychomotor regression, @PHENOTYPICFEATURE$ and diffuse brain atrophy.	has_symptom
+af9e97a834c80ffa6b0cc20f372c338e170e2b7d	Classic @DISEASE$ is characterized by progressive intellectual and motor deterioration, @PHENOTYPICFEATURE$, vision loss, and early death.	has_symptom
+8064b6d59cb458472135c851abb3be38f58077e4	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, @PHENOTYPICFEATURE$, and motor dysfunction.	has_symptom
+4a0096ac146f71de6005e1de23c04802ee16aff5	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @PHENOTYPICFEATURE$, seizures, and motor dysfunction.	false
+8e736381ff99888ce1bf873dfbfc8b525aa65b69	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @PHENOTYPICFEATURE$, @DISEASE$, and motor dysfunction.	false
+c8af6378ced4d07947026d714d8c049c41a6e377	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive @DISEASE$, @PHENOTYPICFEATURE$, seizures, and motor dysfunction.	false
+29f7aa7ba568fd683443e2edbe419d6586e4f290	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, @PHENOTYPICFEATURE$, and pronounced brain atrophy.	has_symptom
+821d123338cfe0683ca7ed85c6d78b672faad27b	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and @PHENOTYPICFEATURE$, cognitive and motor decline, @DISEASE$, and pronounced brain atrophy.	false
+a5901142a23c449e5dfe5ebed79a39234eef0947	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+8b9dfd847e99968fb331b181eb8d6be53911c70b	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary @DISEASE$ characterized by progressive retinal degeneration and @PHENOTYPICFEATURE$, cognitive and motor decline, seizures, and pronounced brain atrophy.	false
+4b9034729e599bf7b7f0a47fe52a2240346439e3	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, @DISEASE$, and pronounced @PHENOTYPICFEATURE$.	false
+863ea325c8e1135b5668cfbbcc6ea06f795268b2	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive @DISEASE$ and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+9d7723a1bf765376648d4dc6e154db2fc802ce81	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and @PHENOTYPICFEATURE$, cognitive and motor decline, seizures, and pronounced brain atrophy.	false
+0e7d4475707a62b1bbd8c7a6815da9a52a527834	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary neurological disorder characterized by progressive @DISEASE$ and @PHENOTYPICFEATURE$, cognitive and motor decline, seizures, and pronounced brain atrophy.	false
+69f4e84fe2360f1867340f07b1dc77b873caf45b	Late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a hereditary @DISEASE$ characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+35478228738379146367eeb451475bbaa25e088f	The CLN6 gene that causes variant @DISEASE$ (vLINCL), a recessively inherited neurodegenerative disease that features blindness, @PHENOTYPICFEATURE$, and cognitive decline, maps to 15q21-23.	has_symptom
+4d8b7562e4fafb52af61161cd4d5d7cc2034ae73	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset visual loss, psychomotor deterioration, and @PHENOTYPICFEATURE$.	has_symptom
+00fc772fb588e9517319973ebfa3658898169be2	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset @PHENOTYPICFEATURE$, psychomotor deterioration, and seizures.	false
+6829c8089d7d1648cb9d6c8c47e1299060b6ed87	The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset @PHENOTYPICFEATURE$, psychomotor deterioration, and @DISEASE$.	false
+4819ca192f96c7d14f69a194bad34d297e192305	In this paper we describe the clinical characteristics, and particularly the @PHENOTYPICFEATURE$ and electroencephalographic findings, in 15 patients with a pathology diagnosis of @DISEASE$ (NCL).	has_symptom
+b2f4a0611fe4dc72edc265533822a6dec6f3a335	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and mental deterioration.	has_symptom
+a13dc754f043c92e9a8948861052c855d9a409e6	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @DISEASE$, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	false
+aee000fcab9033aa4eca9086ba091f41b86c4dd2	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an @DISEASE$ of childhood characterized by seizures, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	false
+1de1ed0745f700cc9474739d4bb6b1c2200b95b9	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	false
+2133e72a14f6bd0dd82992b84c0c632c6d758b6e	Classical @DISEASE$ (LINCL) is caused by mutations in tripeptidyl peptidase I (TPP-I), a pepstatin-insensitive lysosomal protease, resulting in neurodegeneration, acute @PHENOTYPICFEATURE$, visual and motor dysfunction.	has_symptom
+4b7cdecb886275fec4849b349449a08db16516ca	Eleven patients had neuronal ceroid lipofuscinosis type 2 (@DISEASE$) disease and their most common presenting symptom was @PHENOTYPICFEATURE$, although motor and language defects were also reported.	has_symptom
+19be62b7e41bad01a9e4960bcf7591357247c335	Patients with @DISEASE$ (caused by growth-hormone-secreting pituitary adenomas) are at increased risk of hypopituitarism, in particular @PHENOTYPICFEATURE$, before and after multimodal therapy.	has_symptom
+302fa982a35883f9b196e66996ea6d0d608d9c80	The authors report two cases of @DISEASE$ presenting with ED and @PHENOTYPICFEATURE$.	has_symptom
+49a7f3a2e7a2ff89ae14ba94cc396c93e2d9b65e	X-linked hypophosphatemia (@DISEASE$) is characterized by renal phosphate wasting with hypophosphatemia, @PHENOTYPICFEATURE$, and rachitic manifestations.	has_symptom
+2fd491b3ec70e20fe943e9e2f3a04a6f6ea53eb6	@DISEASE$ (XLH) is characterized by renal phosphate wasting with hypophosphatemia, @PHENOTYPICFEATURE$, and rachitic manifestations.	has_symptom
+92aba680644251d0943f730aeb394f2f6f1e54dd	Adults with @DISEASE$ present with chronic musculoskeletal pain and stiffness, @PHENOTYPICFEATURE$, lower limb deformities, fractures, and pseudofractures due to osteomalacia, accelerated osteoarthritis, dental abscesses, and enthesopathy.	has_symptom
+0d1831db01c9ef45b08ea0369aec60a678ee6f8e	Adults with XLH present with chronic musculoskeletal pain and stiffness, @DISEASE$, @PHENOTYPICFEATURE$, fractures, and pseudofractures due to osteomalacia, accelerated osteoarthritis, dental abscesses, and enthesopathy.	false
+f22916676832f6f24d9ba890013abc7ce27c4b75	Adults with @DISEASE$ present with chronic musculoskeletal pain and stiffness, short stature, @PHENOTYPICFEATURE$, fractures, and pseudofractures due to osteomalacia, accelerated osteoarthritis, dental abscesses, and enthesopathy.	false
+5942e9b64a231f08c8e84796304d12ef1a19d882	Despite adequate metabolic control with oral phosphate and vitamin D therapy, patients with @DISEASE$ have @PHENOTYPICFEATURE$.	has_symptom
+6cf19f0c2fbd244741c476a43a1190cf895f5714	@DISEASE$ (Hyp) rickets is characterized by @PHENOTYPICFEATURE$, rickets, and bone abnormalities.	has_symptom
+0c7f4cee9122daba2ff9799961d057f43d40d273	@DISEASE$ (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, @PHENOTYPICFEATURE$, and rachitic manifestations.	has_symptom
+c230b0aed24ec7f90f154728448536ed72acfd6b	X-linked hypophosphatemia (@DISEASE$), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, @PHENOTYPICFEATURE$, and rachitic manifestations.	has_symptom
+e1acb3b8bb06fe0baf17bc41798eed7f1f3635aa	Children with @DISEASE$ usually go to hospital for bow legs and @PHENOTYPICFEATURE$, and biochemical evaluation reveals significantly low serum phosphorus so it is easily diagnosed.	has_symptom
+3f6b06907c4341f26a27e1341480a5e5b57f1554	In general, children with @DISEASE$ have @PHENOTYPICFEATURE$ with greater shortness of lower limbs than trunk.	has_symptom
+74aa8922b1488d83e9290b633c92f0a81f88fae0	Whether growth hormone (GH) deficiency plays a role in @PHENOTYPICFEATURE$ in patients with @DISEASE$ is not known.	has_symptom
+6849df25af2a62f442cb4ed7ba2c512620183482	Patients with @DISEASE$ have @PHENOTYPICFEATURE$, rickets, bone pain and dental abscesses.	has_symptom
+7a421111a5acbdc1a67ca0f0310f49471ed46389	Thus, the @PHENOTYPICFEATURE$ in patients with @DISEASE$ is not due to a GH/IGF-I secretory defect.	has_symptom
+45fe7a080bc042edb03bfe8cbf8510607560d63b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	has_symptom
+9d38a943e000e1005dbce47e65c9b8e3a4af4cdc	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+81863e2a7d45f190a65f5e2b1f9c14b648fa1ea9	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	false
+c89908d943aeee6340a26026b4e1f38ffc2a03c7	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including @DISEASE$, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+f41f9f120d9ae8be48e726713343e8dee8aeaecf	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, @DISEASE$, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+359afa41573fa84c78a5c0b4cefbb349f3296396	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @DISEASE$, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+c0a88fd23e3adb30ec3517b6422c823e9aea7270	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+19b43e18c9b4265a6f196a61b099f80fae60fd25	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, @DISEASE$, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+acc72bfc01c8d109d880630800f1862e3584ac9b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, @DISEASE$, Bardet-Biedl syndrome, and Usher syndrome.	false
+dc5e9cdc15c4f2d3d948fe912e70b258981ece9b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	false
+f2e505464b59985c250f64b32729c528eb11db72	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, @DISEASE$, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+a915f80cc2ab8715e58c354ec0a7ea9087ceea8f	Individuals with @DISEASE$ may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, @PHENOTYPICFEATURE$, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and cerebral ischemia or hemorrhage.	has_symptom
+1c27afd2d26bb57c68807d7374cc99f085b3ba86	Individuals with @DISEASE$ may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and @PHENOTYPICFEATURE$ or hemorrhage.	false
+7410df84c37ad87a08db1d88d7a8cf98d454f3c1	Individuals with PXE may come to forensic attention because of sudden death involving accelerated @DISEASE$ with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and @PHENOTYPICFEATURE$ or hemorrhage.	false
+e5fbf464fcb5f67de9beac594d38533cbdbcfe14	Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, @DISEASE$, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and @PHENOTYPICFEATURE$ or hemorrhage.	false
+2ef8201234dd9703f6d9b8d19581fc3baba26b24	Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, @DISEASE$, gastrointestinal hemorrhage, and @PHENOTYPICFEATURE$ or hemorrhage.	false
+18ddbd3d58d732190763411280c62829a6b656cb	Saccular dysfunction in children with @PHENOTYPICFEATURE$ and @DISEASE$/auditory dys-synchrony.	has_symptom
+087a6bb455ad67cce3ddd7139808bb91dcbee886	To determine the prevalence of Auditory Neuropathy Spectrum Disorder (@DISEASE$) among infants with @PHENOTYPICFEATURE$ (SNHL) and discuss the risk factors.	has_symptom
+7adb632b2075dc6c648837ceaeff1810b36fc778	To determine the prevalence of @DISEASE$ (ANSD) among infants with @PHENOTYPICFEATURE$ (SNHL) and discuss the risk factors.	has_symptom
+004ae30136e0a2532438085cff43e26058572a2f	Perceptual separation of @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3eb0c1e486c48e1ed427779b4eb2a5b2743618df	@DISEASE$: three cases among a group with @PHENOTYPICFEATURE$.	has_symptom
+e642078abf053c50e43270302cae361f1b40e8d1	Auditory neuropathy spectrum disorder (@DISEASE$) affects approximately 10% of patients with @PHENOTYPICFEATURE$.	has_symptom
+7af6b3e6c2906272b8ababb88942a85f2de7d35e	@DISEASE$ (ANSD) affects approximately 10% of patients with @PHENOTYPICFEATURE$.	has_symptom
+fa2e1fe405aa470532797509b2a5665a976847c8	@DISEASE$ (ANSD) is a form of @PHENOTYPICFEATURE$, causing severe deficits in speech perception.	has_symptom
+2bff3218efe5975cd01d0e73cb6322f235b51e55	Auditory neuropathy spectrum disorder (@DISEASE$) is a form of @PHENOTYPICFEATURE$, causing severe deficits in speech perception.	has_symptom
+5dd54a378237013152c7e6ea253ed14bb6defe6c	[Lexical tone perception in @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+aa698085f9065fb4491fa60a9f1c5b86519b604a	Audiometry suggested that the @PHENOTYPICFEATURE$ resulted from @DISEASE$.	has_symptom
+49f291d5054ceb1bd9c395f40b61e4c27d8d0b8b	CI in children with @DISEASE$ has showed benefits comparable to children with profound @PHENOTYPICFEATURE$.	has_symptom
+465e5e102749ace8cc0a3bbf3488d8f297371058	The size of cochlear nerve (CN) is atrophic in adult auditory neuropathy spectrum disorder (ANSD) patients compared with non-ANSD @PHENOTYPICFEATURE$ (SNHL) patients and normal hearing subjects, and CN deficiency is one of the lesions for @DISEASE$ patients.	has_symptom
+f958bdc83f7a1bceb48408b6349fff99d25aede1	The size of cochlear nerve (CN) is atrophic in adult auditory neuropathy spectrum disorder (ANSD) patients compared with non-@DISEASE$ @PHENOTYPICFEATURE$ (SNHL) patients and normal hearing subjects, and CN deficiency is one of the lesions for ANSD patients.	has_symptom
+b0910a30ed39b3dd5370bf295bd56f2209c0ef9a	The size of cochlear nerve (CN) is atrophic in adult auditory neuropathy spectrum disorder (@DISEASE$) patients compared with non-ANSD @PHENOTYPICFEATURE$ (SNHL) patients and normal hearing subjects, and CN deficiency is one of the lesions for ANSD patients.	has_symptom
+544f0ea072176c986ef9cb6771741a423ecb0721	The size of cochlear nerve (CN) is atrophic in adult @DISEASE$ (ANSD) patients compared with non-ANSD @PHENOTYPICFEATURE$ (SNHL) patients and normal hearing subjects, and CN deficiency is one of the lesions for ANSD patients.	has_symptom
+9e4b8eff023decc1ff4ae2d977c2f34fe04b654d	[True @DISEASE$; glucose-amino acid diabetes (familial renal @PHENOTYPICFEATURE$ and amino aciduria); 1st French report of a newly delineated syndrome; biological study].	has_symptom
+068e6f8f6e0d9e63dcd49fc167c28985a23da9cb	@DISEASE$ is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and @PHENOTYPICFEATURE$.	has_symptom
+6e01d73f7a454f9d405c413fe29e2a375e42a407	@DISEASE$ is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, @PHENOTYPICFEATURE$, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia.	false
+e50a59675f591d5447ad9f3ff2fe74bbd28019e0	Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, @PHENOTYPICFEATURE$, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and @DISEASE$.	false
+1aee8017b42ddf3ae34f01ad3ca32785283eceda	Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or @DISEASE$, a prominent coccyx, @PHENOTYPICFEATURE$, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia.	false
+83b0446a3f649a3e3350f5eb70701844e3521b78	@DISEASE$-related @PHENOTYPICFEATURE$ more often affected young males in the study's cohort, especially those of African and Asian descent.	has_symptom
+36513861b728ef922c91965890894bf6f9b6ca78	Atypical adnexal tumors adjacent to @PHENOTYPICFEATURE$: a difficult problem in patients with @DISEASE$ undergoing Mohs surgery.	has_symptom
+94a7a90ca47ee8f7b356b67db96440f66b50b7fb	Atypical adnexal @PHENOTYPICFEATURE$ adjacent to basal cell carcinoma: a difficult problem in patients with @DISEASE$ undergoing Mohs surgery.	false
+140cbe00bdc434410c5b623f5db530774e15f096	Atypical adnexal @PHENOTYPICFEATURE$ adjacent to @DISEASE$: a difficult problem in patients with Brooke-Spiegler syndrome undergoing Mohs surgery.	false
+b03d6e91db1bbbb45a4e5b3a1601fc9292a39606	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, vertebral anomalies and @PHENOTYPICFEATURE$, which belong to the main features of VACTERL-association.	has_symptom
+90008c524b901af751c50b731b8574d7f6d58ae7	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, @PHENOTYPICFEATURE$ and anal atresia, which belong to the main features of VACTERL-association.	false
+022236c0183a1b683b12b28702e6f9d525e48967	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed @PHENOTYPICFEATURE$, urinary tract anomalies, limb defects, vertebral anomalies and anal atresia, which belong to the main features of VACTERL-association.	false
+6055a2f3bff0ce9e5335c5b7f059365bc73759e0	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of Prune-Belly-syndrome. Furthermore the patient showed @PHENOTYPICFEATURE$, urinary tract anomalies, limb defects, vertebral anomalies and @DISEASE$, which belong to the main features of VACTERL-association.	false
+c3f2245bbb28c2fd713b5c191ff81cb2b13fb09d	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of Prune-Belly-syndrome. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, @PHENOTYPICFEATURE$ and @DISEASE$, which belong to the main features of VACTERL-association.	false
+697feba083951da2d1e3b3f45c943eee993bb721	@DISEASE$ (SS) is a rare autoinflammatory disorder characterized by a chronic urticarial rash and a monoclonal immunoglobulin M gammopathy, accompanied by recurrent fever, lymphadenopathy, arthralgia or @PHENOTYPICFEATURE$, hepato- or splenomegaly and elevated levels of markers of systemic inflammation.	has_symptom
+3ec5640e5a88dd0bed7113ea90cad19f3535ff80	Schnitzler syndrome (SS) is a rare autoinflammatory disorder characterized by a chronic urticarial rash and a monoclonal immunoglobulin M gammopathy, accompanied by recurrent fever, lymphadenopathy, @PHENOTYPICFEATURE$ or @DISEASE$, hepato- or splenomegaly and elevated levels of markers of systemic inflammation.	false
+e0433e5b188be2db0242163932dd2178c8caef78	@DISEASE$ (SS) is a rare autoinflammatory disorder characterized by a chronic urticarial rash and a monoclonal immunoglobulin M gammopathy, accompanied by recurrent fever, lymphadenopathy, @PHENOTYPICFEATURE$ or arthritis, hepato- or splenomegaly and elevated levels of markers of systemic inflammation.	false
+7b433c58582e632037a34b7f444e2dd90895f65a	@DISEASE$ (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and @PHENOTYPICFEATURE$, which is caused by a deletion of several genes.	has_symptom
+7dd4ef379651c165d2169533c2d17bcde93c83ec	The @DISEASE$ is characterized by bird-like face, micropthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	has_symptom
+96dd262b458051ace3d73a86bf1ca27014ae55de	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, @PHENOTYPICFEATURE$, @DISEASE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+7f35b303a8f0ef4873a7637df14500762f7825e7	The @DISEASE$ is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+63b9c6ad37514152931697d53520cbb31ac896f7	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, @DISEASE$, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+5cbe86142c1d27a4e64835253fdb39b7ec5d071d	The @DISEASE$ is characterized by bird-like face, micropthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+1614a56ee7047f41779f8dd032114f1b2141636b	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	has_symptom
+d94eb0287beedfd298187f46e8ba1722b22934f0	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @DISEASE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+da2fddd77d09b6f12792742e6c2c40c4b3a94a4d	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, @PHENOTYPICFEATURE$, and dental anomalies.	false
+3b10b6af1f1dac2d72fd08b6edddd3f16e7b8657	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+27216c7d82d90702da0c9c0bb688159f6cb84bdb	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+ad4df9f8a05b1c5c33cd9fb0b4c2a5ea29604e99	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+70609964dce41c10618436f8134efb46a2bc8b6f	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, @DISEASE$, proportionate short stature, and dental anomalies.	false
+9f9938099524d60283f6189c172371537ac1e65e	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @DISEASE$, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+1117aa7c5f3b1e9552b30b92c7feec16e11bb9f4	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @DISEASE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+01b6477a920492abf9dfe2e7e989fd76cc23e53e	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+9ddb112640f409ef5d69b300f4571784d439941e	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+ae9f037211bc9a5e392ea91ff50e361f07525329	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+3fdc80bb89074e2b56e7160476377e154978859a	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+a9934c878418f3270c35f04f0a952a85915269b3	@DISEASE$ (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a @PHENOTYPICFEATURE$, and orodental anomalies.	has_symptom
+4c07cee3b081edea8c8605e8d736018bd3bb1217	Hallermann-Streiff syndrome (HSS) is a @DISEASE$ characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral @PHENOTYPICFEATURE$, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies.	false
+14bd146672e258982e3fc2862f61f38e97256abe	@DISEASE$ (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral @PHENOTYPICFEATURE$, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies.	false
+3cb18541d908979a9d4ef43f18aa56fc100a0f10	Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral @PHENOTYPICFEATURE$, congenital @DISEASE$, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies.	false
+a820a85121a22f139f9bc6b5127816cec23c06b0	Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, @DISEASE$, dyscephaly, bilateral @PHENOTYPICFEATURE$, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies.	false
+f990f8d7cd0d412d2c18e132e1a9f97d0fb30dff	Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral @PHENOTYPICFEATURE$, congenital cataracts, a narrow, weak, beaked nose, a @DISEASE$, and orodental anomalies.	false
+7bdb69eb9d513ef1a9015728ef4f976ca0dfdf5b	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, @PHENOTYPICFEATURE$ and proportionate short stature.	has_symptom
+15f90c982c0316a61d2ea10cea2f8c21c8eb5e40	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+864d6e1d49ef275048db94d6daaaeaf30f208431	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, cataracts, micrognathia and @PHENOTYPICFEATURE$.	false
+2bef3f80c91e75bbcfab4a9c66e5bf7464b6ef33	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, micrognathia and proportionate short stature.	false
+902a5491ad34160ff0f23ef6334c0fe01ada116c	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, micrognathia and @PHENOTYPICFEATURE$.	false
+df6752e02c5ae09845b536bdb1b45f1061727421	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, @PHENOTYPICFEATURE$, micrognathia and proportionate short stature.	false
+b184d7f5a2334adf32cf331f41cc741ec320140d	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, @DISEASE$ and proportionate short stature.	false
+48b29579455d5288d2d5d2f2488b0acc39da8efb	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	has_symptom
+fa4d7b762d81280fcbe99fa1a4988751d3de5f66	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @DISEASE$.	false
+2fe4798f0ecf728788b54e2702bb33ecfaf0cd12	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+3042dd5a0ac9104ca6a5d31acae9337eef916222	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @DISEASE$.	false
+e502a14e7046f9efb424a7be5778b3bdb7040edc	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @DISEASE$.	false
+18219d66ec1df42aa1f91de561e7f23a7774a8b4	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, microphthalmia, skin atrophy, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+3dc2b75a4aa69d4052c6f966f3663262a6c88997	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, @DISEASE$, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+bb3f79ebd7925b2b9c4fd800ecd5c892e1dcd509	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+7593b4c19bdb82e9bf9da29fec867901bee4cba9	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+4b75eb565fc426343fc9d2735b7f740a6db0bd9e	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+7f24ebe449996838d3e2d5cf38bf0b8dd540e277	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, @DISEASE$, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+fd40d51c73683c025bbe80928084b10c59cb5c78	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+c9721d8a045c8362c32880600cb640935070da33	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, @DISEASE$, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+2f98e33841fd9dc70a507ea9cb2c943599ac31ec	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	has_symptom
+22a79e2882af525655e095d7bf97200b643682cd	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+1955c2aff5087ecb70a209426cd93eb4b6f7ff44	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, @DISEASE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+55f7d3ae075e3aa74ecb22caff7b1c3c8b1ca76d	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, @DISEASE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+334262eb86dd8a9e3f54071119a0293cc42125b4	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+60189bd13a3f3b5ebd19550259e419eacc0dbd43	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @DISEASE$, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+c9e450aed9282cb41798bba29207f6c2377d302b	The @DISEASE$ is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+1e4e608ea4f836e98d0498d47453eae63d8e5722	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	has_symptom
+19edc53b8b0152ed91b77c62d4749b82e0c0ecf3	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+ee86a9effc923bddc907729030ca6bd75c843a1d	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, cataracts, beaked nose, @DISEASE$, and proportionate short stature.	false
+e495ab655793255b0903ab7f373598b9bc897b37	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+aa25c046951a9b844ecd1ed2cd87039071aec31c	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+738060b47ab469737103cefe0e005b8f2d672ba7	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, @DISEASE$, and proportionate short stature.	false
+d614b36a38de7c81ad7a69bc5f5fdbfab9963c16	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+d0fc785be043f7d5a195a462ea42b08fefc8af06	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+28cc52151101caf1d2aa6b39fdc19fab0b52cd09	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+4d1b0fcaa971349e67da97be2da2f381cf4f80cf	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+aa0f8ff8191837150b4abefe2e5ee995445a42f9	In the second case there was an episode of chest pain associated with @PHENOTYPICFEATURE$ and chills during rituximab infusion in a patient with a diagnosis of @DISEASE$.	has_symptom
+ba20a6beda619615b569a40aa69a7d48ac062d71	Zika @PHENOTYPICFEATURE$ and congenital @DISEASE$ syndrome: an unexpected emerging arboviral disease.	has_symptom
+58bb6e53d48d684c0e6a83ac63067a82e0a16a5f	@DISEASE$ @PHENOTYPICFEATURE$ and congenital Zika syndrome: an unexpected emerging arboviral disease.	has_symptom
+4cac0bdd73910feeb4fb5da882c92c454ad8cc3c	A widespread epidemic of @DISEASE$ @PHENOTYPICFEATURE$, caused by Zika virus (ZIKAV) has spread throughout the Pacific islands, the Americas and Southeast Asia.	has_symptom
+194c34ca10c1e2b686b8fb9a723af6e9423fa9e1	Arthropod-borne infectious diseases, such as malaria, dengue fever, Chikungu- nya fever, @DISEASE$ @PHENOTYPICFEATURE$, and yellow fever, are also important.	has_symptom
+5e31da7b168f1e48e8c4cbc51bcdec95054d6715	A traveller returning to Australia developed @DISEASE$, with @PHENOTYPICFEATURE$, rash and conjunctivitis, with onset five days after a monkey bite in Bali, Indonesia.	has_symptom
+55df802dbe3f4eb901522358c7087b315ddf9e8d	@DISEASE$ @PHENOTYPICFEATURE$ and congenital Zika syndrome: An unexpected emerging arboviral disease.	has_symptom
+740174a6ba566ccf89d9c5e2a68f0cf92cc24797	Zika @PHENOTYPICFEATURE$ and congenital @DISEASE$ syndrome: An unexpected emerging arboviral disease.	has_symptom
+3b9f412f750e275ea174cbadbfa9afbebf6a854f	The symptoms of @DISEASE$ include @PHENOTYPICFEATURE$, maculopapular rash, arthralgia and non-purulent conjunctivitis.	has_symptom
+18b179ed4d5a82d9e2cbb3f2f76127f13a3b770b	Prolonged viremia and viruria were observed in dengue and @DISEASE$ @PHENOTYPICFEATURE$ cases, respectively.	has_symptom
+ee014f5922c027a8603983615375b5b7aecb6034	Aedes aegypti is an important vector for transmission of dengue, yellow fever, chikun- gunya, arthritis, and @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+35f518cb038c290001bf0ea41ffc73ac35e24691	@DISEASE$ should be suspected in patients with @PHENOTYPICFEATURE$, headache, rash, myalgia and joint pain returning from an endemic areas.	has_symptom
+7852427d4175e73b5f16683005e5d671a109dd96	Most persons with @DISEASE$ are asymptomatic; symptoms when present are generally mild and include @PHENOTYPICFEATURE$, maculopapular rash, arthralgia, and conjunctivitis.	has_symptom
+b3d8cd4dafc7a937415762ba33e5c6e91be64eac	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	has_symptom
+ea7b6d3eb622d8b64139713212b67de6c2f870e7	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+876d61f45efb566cfd0e2b1b3f75add2080cf541	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: @DISEASE$ or Noonan syndrome?	false
+b920b3cd083b26243f8464e9fcd7d081b1e1d07e	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+e5d3569ee2da0c8440f1e65166c9345cb5e4eb63	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or @DISEASE$?	false
+b4f0cfc3ded552dbcb1c44c23305cb33021b11e4	Iris coloboma, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?	false
+5783d9d6dd54d2e6e8efe8aaf4843426cd8aa037	Iris coloboma, @DISEASE$, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+606e487400f5c6b09acb736dcda4358fa92bd032	@DISEASE$ is characterized by craniofacial anomalies, i. e. @PHENOTYPICFEATURE$, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations.	has_symptom
+65bbe94356c6037225ae0af2a6a316d1acd56a50	@DISEASE$ is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as @PHENOTYPICFEATURE$, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations.	false
+7065b205c2d57fda4933c0cc016da3015813deb6	Noonan's syndrome is characterized by craniofacial anomalies, i. e. @DISEASE$, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as @PHENOTYPICFEATURE$, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations.	false
+9d7a12b4ecfd5385d0a08debfafd570bbdf7fa77	We report on four patients with neurofibromatosis and manifestations of @DISEASE$ including short stature, @PHENOTYPICFEATURE$, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	has_symptom
+ad1a92d39aac709fbfb1785082dcfd7e6b425d05	We report on four patients with neurofibromatosis and manifestations of Noonan syndrome including @PHENOTYPICFEATURE$, @DISEASE$, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	false
+0470a6d856b27808e24876f6f6bf80d3650ba5ee	We report on four patients with neurofibromatosis and manifestations of @DISEASE$ including @PHENOTYPICFEATURE$, ptosis, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	false
+236fe4308f4cf8292391dc8fe85746344443a614	We report on four patients with @DISEASE$ and manifestations of Noonan syndrome including @PHENOTYPICFEATURE$, ptosis, "midface hypoplasia," apparently short webbed neck, learning disabilities, and weakness.	false
+321f8e8834e4dbe320463a14115867c352230583	@DISEASE$ (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, @PHENOTYPICFEATURE$, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	has_symptom
+6c565f3831ad9ee481891b1c3d14021fbb6226fb	@DISEASE$ (NS; MIM #163950) is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+2f2ac68dfa7305099b4e08dac970147f308f5470	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and @DISEASE$, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+e918b870ff70b9a61b2a5a714d8d298052fbd69f	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, downward slanting of the palpebral fissures, @DISEASE$, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+2639811c33ca04ec790616e26c9369aff40b061f	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, @DISEASE$ (HCM), and atrial septal defects (ASDs).	false
+689e645203c9483117a92724b27c877297723437	@DISEASE$ (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+5a2a33e5e7cb384be2139ce93d388dc870ea0ce4	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, @DISEASE$ (HCM), and atrial septal defects (ASDs).	false
+6f3898e9b81ae440fc20b162942aefd769a67eb1	Noonan syndrome (NS; MIM #163950) is an autosomal dominant @DISEASE$ characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+d12470a294d18635bda060d6e6f8ed6e6ddb82cd	Noonan syndrome (NS; MIM #163950) is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+b418ee61305f9faa14e8eef894875e6eec079aae	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, short stature, and @DISEASE$, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+f2d7b1ea3333dc68722dbedcf9595b50e61db6df	Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, @DISEASE$, low-set posteriorly angulated ears, @PHENOTYPICFEATURE$, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs).	false
+7bb862e80ef376d9126a78a07719575d01392694	A case of Ullrich-@DISEASE$ with pulmonary stenosis, epicanthus, @PHENOTYPICFEATURE$, small stature, curved tibia, positive sex chromatin, and a diploid chromosome number is presented.	has_symptom
+3c04779d9b7e77858ac196b10613e990731a3572	A case of Ullrich-@DISEASE$ with pulmonary stenosis, epicanthus, ptosis, @PHENOTYPICFEATURE$, curved tibia, positive sex chromatin, and a diploid chromosome number is presented.	false
+10ace2173d9509b2b47dfde27725ef77d01a79d6	A case of Ullrich-Noonan syndrome with pulmonary stenosis, epicanthus, @DISEASE$, @PHENOTYPICFEATURE$, curved tibia, positive sex chromatin, and a diploid chromosome number is presented.	false
+04df43597661f66dfe01d88b145e6982446afbdb	The paper also reviews previous reports of neurological associations with @DISEASE$, the commonest being mild intellectual impairment and @PHENOTYPICFEATURE$.	has_symptom
+d3642001daac560f23416a190df094306a71c711	The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild @PHENOTYPICFEATURE$ and @DISEASE$.	false
+551beb5260bb897897c756bdf36162a6e75ca5a8	The paper also reviews previous reports of neurological associations with @DISEASE$, the commonest being mild @PHENOTYPICFEATURE$ and ptosis.	false
+be103cd6d06449ee8a0a095b9c3e2db3f6c5aabb	We are reporting on a boy and his mother with neurofibromatosis and manifestations of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, midface hypoplasia, and short neck.	has_symptom
+839836e5b009debf4df55bdac1db13b92dcfdbba	We are reporting on a boy and his mother with neurofibromatosis and manifestations of @DISEASE$, including @PHENOTYPICFEATURE$, ptosis, midface hypoplasia, and short neck.	false
+ce72f6ecb6db13412e4179895dbc32dfe9cb5e2e	We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including @PHENOTYPICFEATURE$, @DISEASE$, midface hypoplasia, and short neck.	false
+a3e437fef5bfb4484f56446278dbd8b09a9f7925	We are reporting on a boy and his mother with @DISEASE$ and manifestations of Noonan syndrome, including @PHENOTYPICFEATURE$, ptosis, midface hypoplasia, and short neck.	false
+acc1b39df7d3d17b3721af4dfe332572e427d5d6	We report five new patients with Turner syndrome and a co-occurring genetic disorder including one patient with Li-Fraumeni syndrome, Li-Fraumeni and @DISEASE$, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis-@PHENOTYPICFEATURE$-epicanthanus inversus syndrome.	has_symptom
+7353d2e55968b650bb9901e5cf21bf4f2da0525e	We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, @PHENOTYPICFEATURE$ and recognisable craniofacial manifestations resembling but not identical to @DISEASE$.	has_symptom
+752432bcdc2ee10cf7be31c7e677037709df1926	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	has_symptom
+1cfe31d6956ac5dd092c1f79280e88c6425135fb	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, @DISEASE$, and facial dysostosis.	false
+a90f92eba4f8ff4b40dc84ceb1165cf313ed9670	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+668d84df3ce2ee5fcfbef516928be2b55ef5b981	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+fb291c2414c0f5365c87d5a08bcb72bbd96ecc64	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+b093439c7036a70bbd3f6f80dee4b7148f81e3b8	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, @DISEASE$, and facial dysostosis.	false
+1c260ee21aa4c310fe574a93b251af3054ab7fe9	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+e81e2ad0d403c2645ecdff900352507e70c145be	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+27b9ce7ce96e5d11b87ec23839a82a95f1855029	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, @DISEASE$, and facial dysostosis.	false
+002950254c4cbb00090da1958010016575c6b642	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, @DISEASE$, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+b76a398cf592076c1107fdd8453901bc1039e814	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+6184f5e2ed01e5ed933fed21ad79738ce1945270	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+004d570599c2e598e778574b04dcffea0132a4e2	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+92e0aefa2db6a3616b08aac9d35ec2a110d676e1	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+235ecf943538d1ae4efc325fd67056f312ba2437	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+231597e6fd843dda02e23fe309c532e48556e59d	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+9f27fc63ddd3bee9f1c6c94ccda7a8edd5ffdae3	Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of @DISEASE$, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, @PHENOTYPICFEATURE$, ataxia, wasting of muscles and reduced jerks.	has_symptom
+9ab4238825a5fa587b9a70f88d71bf1ca9ef779d	Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of @DISEASE$, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, deafness, @PHENOTYPICFEATURE$, wasting of muscles and reduced jerks.	false
+88f54ae113b093a79a1889eab68d14968a7d832e	Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of Richards Rundle syndrome, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, @DISEASE$, @PHENOTYPICFEATURE$, wasting of muscles and reduced jerks.	false
+c04589aab68d5c4817f42dfeafdc1222f5286c46	The main features of the @DISEASE$ are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	has_symptom
+91a8825f54e924d95c4a1ce14f4a927cf70dcc69	The main features of the @DISEASE$ are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+7dceef4360d75f73a5b316a365fb9760443ab3fe	The main features of the Curry-Jones syndrome are @DISEASE$, pre-axial polydactyly, craniosynostosis, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+552c1155de0376928b211dcc7a93dddded8a72a3	The main features of the @DISEASE$ are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+04e0c3c221f010d2d5470a9844d610b94e8252b2	The main features of the Curry-Jones syndrome are @DISEASE$, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+7896465c08fca2c38ce120a012683481b82deef3	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+31a6dbe327eca7b893431f93bfb1fba715b8d865	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+98b0d49ca84d5312659322619f5731b510e1110c	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+a3fe51e3f6bf90c17b21c0f4d6bfccf0c7e1aa51	The main features of the @DISEASE$ are syndactyly, pre-axial polydactyly, craniosynostosis, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+3eb6a0307049a046e24913c8fc493e64da281dac	The main features of the Curry-Jones syndrome are @DISEASE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+e1c0a1bbc0a21e43e10bd684bdd6b1304981c7f5	The clinical features presented by @DISEASE$ patients include ketoacidosis, convulsions, coma, psychomotor delay and @PHENOTYPICFEATURE$.	has_symptom
+9876029845f6215fe3c497111ec8150105a98474	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and @PHENOTYPICFEATURE$; however, the pathophysiology of this disease is poorly understood.	has_symptom
+3bac596d760e0cbbba9244ed3188c38164fa0208	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+6d1e5ffd98f826541505ae7bc0829c298bd0da26	The major clinical features presented by MSUD patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and @DISEASE$; however, the pathophysiology of this disease is poorly understood.	false
+a4cda911894b57f869377e5cfdef62556e6be608	The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay, and @DISEASE$; however, the pathophysiology of this disease is poorly understood.	false
+486e89c43af1681d65840797737bbf5c494c55aa	The major clinical features presented by MSUD patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay, and @DISEASE$; however, the pathophysiology of this disease is poorly understood.	false
+c2f34b5035be79e18d15ef18d28c118a8761e40e	The major clinical features presented by @DISEASE$ patients include ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+a9dc033c1587a07bb5390b2c0bcd77b4db395446	The major clinical features presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+0b576ef6c118e7188fc56a2f62a2ed30a43b7b8b	Although a variable degree of psychomotor/delay/@PHENOTYPICFEATURE$ is found in a considerable number of @DISEASE$ patients, the mechanisms underlying the neuropathology of this disorder are yet not defined.	has_symptom
+8a0e0a917da7c52188b378715cad6603a2b697f3	Maple syrup urine disease (@DISEASE$) is a rare heritable enzyme defect associated with @PHENOTYPICFEATURE$.	has_symptom
+ed825cf2a99e2d9a649172b3594494062713d3c4	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and @PHENOTYPICFEATURE$.	has_symptom
+e028b4ef4058d376f9403eab9241b7b327bdb9ae	The main clinical symptoms presented by MSUD patients include ketoacidosis, @PHENOTYPICFEATURE$, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and @DISEASE$.	false
+8f5d624039b645bcc66d9c0585d62b0af39c8a79	The main clinical symptoms presented by MSUD patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, @PHENOTYPICFEATURE$, convulsions, coma, psychomotor delay, and @DISEASE$.	false
+98cf8176590141117054dad2bb1d8522675510b0	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, hypoglycemia, opisthotonos, poor feeding, apnea, @PHENOTYPICFEATURE$, convulsions, coma, psychomotor delay, and mental retardation.	false
+067033f82b0d28594cbcb3a087754d60e1ebf856	The main clinical symptoms presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, opisthotonos, poor feeding, apnea, ataxia, convulsions, coma, psychomotor delay, and mental retardation.	false
+70dccfd68bf441c3ea770ddcf5b75919ca267add	Majority of the patients with @DISEASE$ had developmental delay/@PHENOTYPICFEATURE$ (88%), speech delay (69%), and seizures (65%).	has_symptom
+ce6e2b8d400c4dc85ac171d12350c9e46e6abcfc	Majority of the patients with MSUD had developmental delay/@DISEASE$ (88%), @PHENOTYPICFEATURE$ (69%), and seizures (65%).	false
+b5a0dfb3ebc23e27fff59c56620ebb306e6d5e94	Majority of the patients with MSUD had developmental delay/@DISEASE$ (88%), speech delay (69%), and @PHENOTYPICFEATURE$ (65%).	false
+3390a6187239481a40f29875a0a058a853e73fa5	Majority of the patients with @DISEASE$ had developmental delay/intellectual disability (88%), @PHENOTYPICFEATURE$ (69%), and seizures (65%).	false
+c1c01c2707ba4212dcf1b5bb27bea48ad9c7f6fa	Majority of the patients with @DISEASE$ had developmental delay/intellectual disability (88%), speech delay (69%), and @PHENOTYPICFEATURE$ (65%).	false
+ea3a672ab31b29a488d0c1126d218252b20bcd4e	The data indicate that the alpha-hydroxy acids accumulating in @DISEASE$ impair cognition and may be implicated in the neuropathology and psychomotor delay/@PHENOTYPICFEATURE$ observed in the affected patients.	has_symptom
+0458b4a1217467548b62782d1ba65af8ce14cc03	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and @PHENOTYPICFEATURE$, but, the neurological pathophysiologic mechanisms are poorly understood.	has_symptom
+3e827917d6214373497d71702f22d92fcee328ec	The main symptomatology presented by MSUD patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay and @DISEASE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+f9a94916ea27d5d5d9f08a13eb06e34e017955e2	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+a45f99a933c6ddefe921bcd52d78c61870ad54fc	The main symptomatology presented by MSUD patients includes ketoacidosis, failure to thrive, poor feeding, apnea, ataxia, @PHENOTYPICFEATURE$, coma, psychomotor delay and @DISEASE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+522baf788c4f76ba077339f94c774ed3b94b73c7	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+34dba342708eac579bd8bf195f21c77828a424af	The main symptomatology presented by MSUD patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and @DISEASE$, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+ca833880830c2894f48ef961631394c12c77f2b0	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, failure to thrive, poor feeding, apnea, @PHENOTYPICFEATURE$, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+167a651145fa7e2a369da7f25565d699328d3f60	@DISEASE$ patients generally present ketoacidosis, poor feeding, ataxia, coma, psychomotor delay, @PHENOTYPICFEATURE$ and brain abnormalites.	has_symptom
+a749ca782681546bc071c963526963093f699f09	MSUD patients generally present ketoacidosis, poor feeding, @PHENOTYPICFEATURE$, coma, psychomotor delay, @DISEASE$ and brain abnormalites.	false
+3b7fba5a068ac96782ca8440974147fd2115e6d0	@DISEASE$ patients generally present ketoacidosis, poor feeding, @PHENOTYPICFEATURE$, coma, psychomotor delay, mental retardation and brain abnormalites.	false
+c0066f0199089f74303d4836e77cdaa8f1234ab3	Maple syrup urine disease (@DISEASE$) is a metabolic disorder associated with often-fatal ketoacidosis, neurological derangement, and @PHENOTYPICFEATURE$.	has_symptom
+7da858493fff96763fad84665cee4f320ca847ff	Mutations in PLA2G6 are associated with a number of neurodegenerative disorders including @DISEASE$ (NBIA), infantile neuroaxonal dystrophy (INAD), and dystonia @PHENOTYPICFEATURE$, collectively known as PLA2G6-associated neurodegeneration (PLAN).	has_symptom
+ef6a5899d0eeb88847681475d8aced819cd9e946	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset @PHENOTYPICFEATURE$, @DISEASE$, primary familial brain calcifications, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	has_symptom
+3fade669101135f2e907392c008e1462a01f1b13	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, @DISEASE$, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+5c2f8f99b90bf45d707dc2a853586b0472589bfb	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, @DISEASE$, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+d6dc9d148705c95621266d7eee58d3769596c985	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset @DISEASE$, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+07e6f7cd940c99880ce44962a2c87f76089407b2	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited @DISEASE$, then non-inherited neurodegenerative PPS.	false
+af8c8d9271e012d857bdde4676f73df09118ba8e	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in @DISEASE$, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+338c1ea9818f55131f415e09ccca4ea3f3339886	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited @DISEASE$ found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+891266748afc67f09f3a5baf18fec47e9f5488e5	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative @DISEASE$.	false
+f7829f9b9544d3b1bf075c93f44a978fafd9e309	Inactivating mutations in CaSR cause familial hypocalciuric hypercalcemia type 1(FHH1)and neonatal severe @PHENOTYPICFEATURE$(NSHPT), while activating mutations lead to autosomal dominant hypocalcemia type 1(ADH1)and @DISEASE$ type ?.	has_symptom
+5fb874b34ee5d1e55f9704fd85b13e694214aa28	We describe 2 brothers with cardiomyopathy and @PHENOTYPICFEATURE$ and conclude that this is the first description of the @DISEASE$ in the United States.	has_symptom
+20904be6f333e6b7a7dbc10e85e372e8977739c5	@DISEASE$ is a very rarely encountered syndrome which was first diagnosed in 1985 upon the examination of two sisters, with findings of @PHENOTYPICFEATURE$, dilated cardiomyopathy, blepharoptosis, and broad nasal base.	has_symptom
+ab6e810a902d762b33826339c9b7f436f1da055f	LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and @PHENOTYPICFEATURE$, including those previously diagnosed with @DISEASE$.	has_symptom
+1c76d2d8e0bfdf2a021da7dba8edb94771f4a7a3	Galactose-1-phosphate uridyltransferase deficiency, or @DISEASE$, is the most frequent and the most severe of the three enzyme deficiencies; it is characterized by @PHENOTYPICFEATURE$, liver failure, susceptibility to sepsis, and death, if untreated.	has_symptom
+b74aa6f4eaaca9b34986bc047f139c2bc2f2ea9c	@DISEASE$, or classic galactosemia, is the most frequent and the most severe of the three enzyme deficiencies; it is characterized by @PHENOTYPICFEATURE$, liver failure, susceptibility to sepsis, and death, if untreated.	has_symptom
+b3380ed24f8c183b5f902694d3c301f4cd753aa6	@DISEASE$, characterized clinically by acute hepatic dysfunction, sepsis, cataract, and @PHENOTYPICFEATURE$, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	has_symptom
+d378970c0d0d5e9b11b4c0e063fb40f7ec2a1d17	Classical galactosemia, characterized clinically by acute @DISEASE$ dysfunction, sepsis, @PHENOTYPICFEATURE$, and failure to thrive, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	false
+bfa7441a1165221b8161b47f3de3ca0515b78ca7	@DISEASE$, characterized clinically by acute hepatic dysfunction, sepsis, @PHENOTYPICFEATURE$, and failure to thrive, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	false
+03402d5eb1c6cbaf5c1f5f6003c959fcc22306a4	Classical galactosemia, characterized clinically by acute hepatic dysfunction, sepsis, @PHENOTYPICFEATURE$, and @DISEASE$, is caused by deficiency of galactose-1-phosphate uridyltransferase (GALT).	false
+bbd473b4bcdae208353dab84da356f3258f7e657	More impressive than incidentally diagnosed solitary cylindromas are multiple @PHENOTYPICFEATURE$ in patients with familial @DISEASE$.	has_symptom
+ea3fc83b205b270a62b8b69084d2a19d73e9baf8	@DISEASE$ is a rare genetic condition associated with adnexal and epidermal @PHENOTYPICFEATURE$.	has_symptom
+3133526358ff1c0ca249715857d4486a7b6e6056	@DISEASE$ variant: segregation of @PHENOTYPICFEATURE$ types with mixed differentiation in two generations.	has_symptom
+af04d8a92357a604262a5b8770d3fbb32dc43f8a	Brooke Spiegler syndrome is a rare genodermatosis characterized by an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal @PHENOTYPICFEATURE$ (spiradenoma, mila), we report two family cases of @DISEASE$.	has_symptom
+64815187a27141cb14e19f0d263c09682ba9c943	@DISEASE$ is a rare genodermatosis characterized by an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal @PHENOTYPICFEATURE$ (spiradenoma, mila), we report two family cases of Brooke Spiegler syndrome.	has_symptom
+88e6a98ed76011e78072f85eb5a4d8ed1a962389	Multiple cylindromas may form a 'turban @PHENOTYPICFEATURE$' in the autosomal dominant @DISEASE$.	has_symptom
+56134569e68959e526d3152543e6f3b43132b3c1	@DISEASE$ is an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal @PHENOTYPICFEATURE$.	has_symptom
+e9a9dc600fc15c5f1bca752973f57d877643b10a	They occur as multiple tumours (as in @DISEASE$) and solitary @PHENOTYPICFEATURE$.	has_symptom
+ed4b894793070f67de8476b5bbc4b11d12b27b18	They occur as multiple @PHENOTYPICFEATURE$ (as in @DISEASE$) and solitary tumours.	has_symptom
+b3c112e21522cfee0e40afd82bac97145ebc78ad	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ predisposition disorder.	has_symptom
+01cc2d47237c6f03bf29ca1f00b87f7d71b27bbd	A 46-year-old woman with @DISEASE$ has multiple cutaneous adnexal @PHENOTYPICFEATURE$ on her face and scalp.	has_symptom
+9cebe91844056e981751bd61c229d430418aba11	Patients with @DISEASE$ should be explored for malignant @PHENOTYPICFEATURE$.	has_symptom
+4b0619fd037beb1620c27d4a801b770b634c124c	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	has_symptom
+391b8a77033b3ca8a27aa5a02de68d927c33a202	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+14ce6eb37efd4d47edad2c299f80dcfd83f7532d	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+a4f52f96caf051be3f8472ca6e0f802256d4cf5d	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rapidly progressive neurological disorder leading to brain atrophy with calcification, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+39d50ddba7a2cc818b923968f852bbcec0228bbd	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, @DISEASE$, progressive joint contractures, and growth failure.	false
+291e83af508c0887c8878dfeeda0b846e1f4a997	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, @DISEASE$, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+0971b9ece155579f5e940973a25d9e30d3648395	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive @DISEASE$ leading to brain atrophy with calcification, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+a9806fc0bddcd606d9a7fd0e63925ea7461caa4e	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive @DISEASE$ leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+2b141f9df90f47bed8dcd5bd9b7c2a752f497ca1	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+7c9e3761133b07e015de6160e6d0a3039133bf13	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive @DISEASE$ leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+8fcfad3ca52d1e3ea4534d366017cf1145d5054e	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, @PHENOTYPICFEATURE$, microcornea, @DISEASE$, progressive joint contractures, and growth failure.	false
+f55bc04a83c2db8868fcd3e97d7057478307bc10	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+77e224a7ac4ee4e3c4f63fecf92bc8991974dea9	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+6628a1b6c4013b047c2bc2f2a40d81f0f621d324	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, @PHENOTYPICFEATURE$, progressive joint contractures, and growth failure.	has_symptom
+5dcc9a3b89557f46388877d0aea9fa1aca0f51de	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, @PHENOTYPICFEATURE$, microcornea, @DISEASE$, progressive joint contractures, and growth failure.	false
+f4966d3f4c704870ea42455fb365c8858f1643cb	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+a65c8acb347cefcf4a52ce106742663297a36be9	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, @DISEASE$, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+adaf6aac7fa1320a9147ab72b47d808d75e6eee0	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+68911ace5b983d03abef98e72d000205dbe83452	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+09317201c5824072db393183fcb74bb78d2e5051	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, @DISEASE$, progressive joint contractures, and growth failure.	false
+1527d138735f4d3af03fa8596d6757448f172621	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive @DISEASE$ leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+585537f7c6d9a33d71cfa516d8fe3006a4de3abe	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+79d50a0cf2371f19110423b67a7e0d66369fa28a	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive @DISEASE$ leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+5619992a05d093d7ca8cd080cbba6574f1a38678	Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive @DISEASE$ leading to brain atrophy, with calcifications, @PHENOTYPICFEATURE$, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+6921d3c61f8b930f395b5258c82af8ca8543fe7b	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+46a96869b93f2c4e03cb4ea440846a6dbedf1dfa	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+fbd2c35fdc3353dde639a0b44c7df0bad7976061	Exploring face perception in disorders of development: evidence from @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+129e5d63b9dc9f2c0204bce6b57e3603f95a55f4	Spontaneous and cued gaze-following in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c00ab09f065a864527bc4237769d646d864c8dbc	@PHENOTYPICFEATURE$ and @DISEASE$: a case report.	has_symptom
+0d594f5250b20ed230ce2d7c46545206721fe87f	Presence of @PHENOTYPICFEATURE$, hyperserotonemia, and severe expressive language impairment in @DISEASE$.	has_symptom
+2a0aa22852ba26b21fa6c068332c04254c357782	(@PHENOTYPICFEATURE$, 34), and 7q11.23 (@DISEASE$, 11).	has_symptom
+3000c78750d5d6fb1def93b28fb7be1e5a4c0eb2	Viewing it differently: social scene perception in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a629d828f34142314cc5ea648ee2da553351f8df	Do faces capture the attention of individuals with @DISEASE$ or @PHENOTYPICFEATURE$?	has_symptom
+178a1de3c92a1e10b12698c38d1836e55b62f004	Feature salience and unfamiliar face processing in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+4f561e1b5e9b0a666e89a5e70904d82f78dd3771	Developing spatial frequency biases for face recognition in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5e41cb11b7f2c749369454e0b34d5a15e8e1fa56	Neurobiology of social behavior abnormalities in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+de76e322c338600e7381b09ce8f28c18c3f81e2c	Renal transplantation for infantile @DISEASE$ corrects @PHENOTYPICFEATURE$ and prolongs survival.	has_symptom
+7b9708686e774bde614d784cf8a41516cb567260	The lysosomal storage disease @DISEASE$ results in @PHENOTYPICFEATURE$ at approximately 10 years of age.	has_symptom
+f9c49582355b61b28d2b784704d14c13a1407cd7	In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with @PHENOTYPICFEATURE$, but causes severe osteopenia and growth retardation, thus raising the hypothesis of a specific underlying bone defect in @DISEASE$.	has_symptom
+aa2a41ded6b28a62beaf34dc3565a0ddce3fc019	In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with renal failure, but causes severe osteopenia and @PHENOTYPICFEATURE$, thus raising the hypothesis of a specific underlying bone defect in @DISEASE$.	false
+33f2674a94e8cc885a1df355d1ef429b13af70fa	In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with @DISEASE$, but causes severe osteopenia and @PHENOTYPICFEATURE$, thus raising the hypothesis of a specific underlying bone defect in cystinosis.	false
+16e841a91d1556fb29edd9a9c6bbfc74e610bd03	Bone marrow findings in hereditary @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+553d2f7b545142253feece156aec3a158081cfa6	@DISEASE$ is an inherited disorder resulting from a mutation in the CTNS gene, causing progressive proximal tubular cell flattening, the so-called swan-neck lesion (SNL), and eventual @PHENOTYPICFEATURE$.	has_symptom
+56f0b433f8183ad3f63d35e6850b5d00eefc9629	Phenotypic variation in ophthalmic manifestations of @DISEASE$ (@PHENOTYPICFEATURE$, dermal aplasia, and sclerocornea).	has_symptom
+24067d7097b54303ad82bdc4d39b963c33f17263	@DISEASE$ (@PHENOTYPICFEATURE$, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.	has_symptom
+5d0fedd6ce8c0076b0208b318d2aba80699e5600	@DISEASE$ is an X-linked dominant disorder characterized by @PHENOTYPICFEATURE$ and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk.	has_symptom
+8ea3c6177b40d9f8c985d2f242bf1d92ad84d82e	Another observation of @PHENOTYPICFEATURE$ in an XX male: @DISEASE$ without linear skin lesions.	has_symptom
+67e051a2efbd138b4843064af44299242ed38520	Girls with @DISEASE$ have @PHENOTYPICFEATURE$ with linear skin defects of face and neck, sclerocornea, corpus callosum agenesis and other brain anomalies.	has_symptom
+38a2f8bd742334807bc7e6a1d86441335116aba3	Girls with MLS syndrome have @DISEASE$ with linear skin defects of face and neck, sclerocornea, @PHENOTYPICFEATURE$ and other brain anomalies.	false
+c32b4e0a9a05735f5e91e817d8a1876ba274f430	Girls with @DISEASE$ have microphthalmia with linear skin defects of face and neck, sclerocornea, @PHENOTYPICFEATURE$ and other brain anomalies.	false
+fb919dd7b0438fe54b02bedc04563a8bfcb29a49	Finally, another case of the newly described association of @PHENOTYPICFEATURE$, dermal aplasia, and sclerocornea (@DISEASE$) is reported.	has_symptom
+ac1d5797d3e27e0d30ce64f78c860c6f47551b77	The association of @PHENOTYPICFEATURE$ and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or @DISEASE$ (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.	has_symptom
+72cea015ef84ec6197f53b2b76ee5cbf7ce0f97b	The association of @PHENOTYPICFEATURE$ and linear skin defects was named @DISEASE$ (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.	has_symptom
+f0c45e5651fc0bb5d7f794fe63a92551de1e5346	The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or @DISEASE$ (@PHENOTYPICFEATURE$, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.	has_symptom
+4dc05d932ef95e46cc3af18dea48d248f5380119	The association of microphthalmia and linear skin defects was named @DISEASE$ (MLS) or MIDAS syndrome (@PHENOTYPICFEATURE$, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.	has_symptom
+d272b1d2ca44b238d30c44484c1c0734e3036603	[COX7B mutations in @DISEASE$ or @PHENOTYPICFEATURE$ with linear skin defects (MLS)].	has_symptom
+a6de42d8bc162df4795507e42d46180324bc9cda	@DISEASE$ (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by @PHENOTYPICFEATURE$ or other ocular anomalies and skin lesions limited to the face and neck.	has_symptom
+4feaa94d578d4d1e1fa61063b60644404c6c105e	We describe a severe case of @DISEASE$ that presented prenatally with multiple anomalies including cystic hygroma, @PHENOTYPICFEATURE$, intrauterine growth restriction and a complex congenital heart defect.	has_symptom
+6b6b951385755c406b4c56afa12d7148289ca0c6	We describe a severe case of @DISEASE$ that presented prenatally with multiple anomalies including cystic hygroma, microphthalmia, intrauterine growth restriction and a complex @PHENOTYPICFEATURE$.	false
+1823375ec36ae3191dd4f0965951d9bb4fb679e4	We describe a severe case of MLS syndrome that presented prenatally with multiple anomalies including cystic hygroma, @DISEASE$, intrauterine growth restriction and a complex @PHENOTYPICFEATURE$.	false
+fd5063cc49626710f99f932a351e6516eaad5d85	Different mechanisms underlying the @PHENOTYPICFEATURE$ in @DISEASE$ are discussed.	has_symptom
+ad0536da2e44526d48f09de850f863d2ed2106a1	@PHENOTYPICFEATURE$ are a distinguishing ocular feature of the variant of @DISEASE$ associated with the D409H mutation and with calcific cardiac disease.	has_symptom
+aab8951b49763223d13634a135685b39422ce78f	A 14-year-old female with @DISEASE$ presented with hydrocephalus, @PHENOTYPICFEATURE$, cirrhosis, and cardiac valvular involvement.	has_symptom
+38a38e6dbbfe473464a4159ca01272993a11f1af	A 14-year-old female with Gaucher disease presented with @PHENOTYPICFEATURE$, corneal opacities, @DISEASE$, and cardiac valvular involvement.	false
+6b643537a53095f08e7cbebc13167a3753ef5f8d	A 14-year-old female with Gaucher disease presented with @PHENOTYPICFEATURE$, @DISEASE$, cirrhosis, and cardiac valvular involvement.	false
+c5457b9ba959d8093123e6c46fc9240edddb6f41	A 14-year-old female with @DISEASE$ presented with @PHENOTYPICFEATURE$, corneal opacities, cirrhosis, and cardiac valvular involvement.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+06b941023fc8a6521cf19cfd3d7e8e3436928a9a	Hydrocephalus, @PHENOTYPICFEATURE$, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	has_symptom
+0be2fdb69f16d5c5dee8133fd67b1731dc670957	Hydrocephalus, corneal opacities, @PHENOTYPICFEATURE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-@DISEASE$ and a mosaic population of storage cells.	false
+9ec2c8a66a4c5e599fa14b8329f093eaad9415cf	Hydrocephalus, corneal opacities, @PHENOTYPICFEATURE$, @DISEASE$, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+4d0a30c54934e27f34ae9853cf7d903f1612f321	Hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.	false
+ba45a2e9b735011db0901fc08d723327f7297217	Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the @DISEASE$, which is often associated with epileptic seizures, @PHENOTYPICFEATURE$, and generalized dystonia.	has_symptom
+ad4caa52e9df810c6459c55224b1eeb2026c5d2b	Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the @DISEASE$, which is often associated with @PHENOTYPICFEATURE$, mental retardation, and generalized dystonia.	false
+278d076c16feb572f1322291107f17e0eb71f0b8	Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the hyperinsulinism/hyperammonemia syndrome, which is often associated with @PHENOTYPICFEATURE$, @DISEASE$, and generalized dystonia.	false
+5b474e6bdb857fe8363b59eb32c02c7f296bf4b5	Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the hyperinsulinism/hyperammonemia syndrome, which is often associated with @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+24f2179b7828e68fcf8dce44f07fbdabed033968	@DISEASE$ is considered the second most common form of hyperinsulinism (HI), and usually associated with epileptic seizures, @PHENOTYPICFEATURE$ and generalized dystonia.	has_symptom
+0870e2ae2de91000c99fb578a7940f14acfa8af1	HI/HA syndrome is considered the second most common form of hyperinsulinism (HI), and usually associated with @PHENOTYPICFEATURE$, mental retardation and @DISEASE$.	false
+c8c69e2494d4448c701d4c14e5cbe82facb4a845	HI/HA syndrome is considered the second most common form of @DISEASE$ (HI), and usually associated with @PHENOTYPICFEATURE$, mental retardation and generalized dystonia.	false
+03f22fe1eee4d2f3887b44dfe534a5fe7437a7eb	HI/HA syndrome is considered the second most common form of hyperinsulinism (HI), and usually associated with @PHENOTYPICFEATURE$, @DISEASE$ and generalized dystonia.	false
+4592d3c9d1dc96586fe9ac0e017017e302f0224b	@DISEASE$ is considered the second most common form of hyperinsulinism (HI), and usually associated with @PHENOTYPICFEATURE$, mental retardation and generalized dystonia.	false
+c78c5fae97bfe9d4b4c61b88ce9bed550daf1c53	In view of these findings, it would be advisable to study each individual with @DISEASE$ and @PHENOTYPICFEATURE$ for possible inner ear abnormalities.	has_symptom
+25160f2461fa96516e65cc8a456b81289d99853c	In view of these findings, it would be advisable to study each individual with KMS and @DISEASE$ for possible @PHENOTYPICFEATURE$.	false
+624e7ff9756f9e2a4d55fabd8ff4e1c3211d4258	In view of these findings, it would be advisable to study each individual with @DISEASE$ and hearing impairment for possible @PHENOTYPICFEATURE$.	false
+47b718b1f4000e7feb6233217394c1d349950d84	In conclusion, @DISEASE$ should be kept in mind when evaluating an individual with @PHENOTYPICFEATURE$ and a wide spectrum of inner ear abnormalities occurs in this syndrome.	has_symptom
+347c9afa12d9aa06a57e89e6ac37ce5595446ba1	In conclusion, @DISEASE$ should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of @PHENOTYPICFEATURE$ occurs in this syndrome.	false
+12fd04a27e46439a954948f9e20cb463b9b8e0b7	In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with @DISEASE$ and a wide spectrum of @PHENOTYPICFEATURE$ occurs in this syndrome.	false
+69b0e357c3f7bb2cf4d02eacae64fbbd0bda9d1a	cause @DISEASE$ with hearing loss as the main phenotype and related research on types of @PHENOTYPICFEATURE$].	has_symptom
+50d6cdab7f13d4907c69ab33ea30a1e5281eb4f1	The prognosis of @DISEASE$ in our cases may depend on the interaction of different negative factors such as onset of aphasia before 4 years, its duration for longer than 1 year, long-lasting duration and continuity without fluctuations of BTESES/IESES, probably preexisting mild @PHENOTYPICFEATURE$.	has_symptom
+d7c34c88b44a8ed38e71c1c3f049c2fb5f6c99b6	@DISEASE$, a rare condition characterised by painful subcutaneous plaques of fat associated with @PHENOTYPICFEATURE$ and emotional disturbances in menopausal females, is being reported.	has_symptom
+7d1e75cb85fcb2d949211fcad3fe7a2427baf1c9	Dercum's disease (@DISEASE$) is a rare condition characterized by progressively painful fatty deposits, usually, in menopausal women with @PHENOTYPICFEATURE$, asthenia and mental phenomena.	has_symptom
+8efef9b30d614749782c8a64fcb124561478457a	@DISEASE$ (Dercum's disease) is a syndrome of painful adipose tissue which occurs most often in post-menopausal women and is associated with @PHENOTYPICFEATURE$, asthenia, and emotional disturbances.	has_symptom
+b579795bc75e482dc179891acdf1a9e463503f7a	@DISEASE$ or Dercum's disease consists of a painful progressive localized state of obesity with four cardinal symptoms: a) painful circumscribed or diffuse fatty deposits, b) generalized @PHENOTYPICFEATURE$ in women usually of menopausal age, c) asthenia, weakness and frequently tendency to fatigue and d) mental phenomena including emotional instability, depression, epilepsy, mental confusion and true dementia.	has_symptom
+ffb1810a2b48386558567404245f0188c2d3235b	@DISEASE$ or Dercum's disease consists of a painful progressive localized state of @PHENOTYPICFEATURE$ with four cardinal symptoms: a) painful circumscribed or diffuse fatty deposits, b) generalized obesity in women usually of menopausal age, c) asthenia, weakness and frequently tendency to fatigue and d) mental phenomena including emotional instability, depression, epilepsy, mental confusion and true dementia.	has_symptom
+30f47b1a1b8bc8641d53ba7f5ef72138e3062982	The authors report on the first case of OAVS (@DISEASE$), with hemifacial microsomy, @PHENOTYPICFEATURE$, pubertas precox, thelarche at 4 years of age, vaginal bleeding at 5 years, and left ovary of adult type on echography (right ovary initially not visualized).	has_symptom
+453e5cdc95bc8d297333ed03075abdff582ac9aa	@DISEASE$ (TRPSI) is a genetic disorder characterized by sparse hair, a bulbous nasal tip, @PHENOTYPICFEATURE$ with severe generalized shortening of all phalanges, metacarpal and metatarsal bones and cone-shaped epiphyses.	has_symptom
+ec9d9e6f50f1ebea9028001a04c638a8ad898eec	We describe a 5-year-old girl with features resembling @DISEASE$ (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and @PHENOTYPICFEATURE$), and appendicular exostoses similar to trichorhinophalangeal syndrome, type II.	has_symptom
+a9d6840b019ea9a36e2af171d18fa4deab2cae93	Gitelman's syndrome is manifested by @DISEASE$, hypomagnesemia, hypocalciuria, normotensive hyperreninemia and @PHENOTYPICFEATURE$.	has_symptom
+045a8e5f23d706d47a5d74907df7c4f0f73e03da	@DISEASE$ consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic @PHENOTYPICFEATURE$.	has_symptom
+6c86cd8c21a5e5686b5443597857b876bb521bec	Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, @PHENOTYPICFEATURE$ and hyperreninaemic @DISEASE$.	false
+c17bfc70dec780c716092dccf0fbfa6b35aacf65	@DISEASE$ consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, @PHENOTYPICFEATURE$ and hyperreninaemic hyperaldosteronism.	false
+b5f4631f5b0550fa79d7177307310f1fc95fcda0	Pregnancies with fetuses affected with the @DISEASE$, an autosomal recessive disorder of hyperreninism and @PHENOTYPICFEATURE$, are complicated by early onset of polyhydramnios which results in preterm deliveries.	has_symptom
+9b2351c16f3c5b0584671fb1ce88cc9ff2e31d29	Second, in highlighting this case we want clinicians to be aware that a subtype of neonatal @DISEASE$ can present with initial hyperkalemia so that an erroneous diagnosis of pseudohypoaldosteronism is not made when this is seen in combination with hyponatraemia and hyperrenin @PHENOTYPICFEATURE$ [corrected].	has_symptom
+98834f3b490d7e02527b29e3ddaa26310ffae0a9	@DISEASE$ (PD) is an inherited disorder associated with cutaneous ulcers, intellectual disability, @PHENOTYPICFEATURE$, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections.	has_symptom
+a49c7e28e71e7fc8dfd6ac0cebac347c3b2de950	Prolidase deficiency (PD) is an inherited disorder associated with cutaneous ulcers, @PHENOTYPICFEATURE$, unusual facial appearance, skeletal deformities, hematological anomalies, splenomegaly, and chronic @DISEASE$.	false
+61f0e6b573b210cf78e9f07b16283f622d6f4e93	@DISEASE$ (PD) is an inherited disorder associated with cutaneous ulcers, @PHENOTYPICFEATURE$, unusual facial appearance, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections.	false
+a6862f10deab1e2f45c7673218fbfea0b29772b8	Prolidase deficiency (PD) is an inherited disorder associated with cutaneous @DISEASE$, @PHENOTYPICFEATURE$, unusual facial appearance, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections.	false
+7be823c1e19e220deb949bec3e8fbaa0d363634d	Prolidase deficiency (PD) is an inherited disorder associated with cutaneous ulcers, @PHENOTYPICFEATURE$, @DISEASE$, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections.	false
+914bfb44ec74386f596f21f1282ed2bd77b963c8	@DISEASE$ is a rare autosomal recessive disorder characterized by cutaneous ulcers, @PHENOTYPICFEATURE$, recurrent infections, and intellectual disability.	has_symptom
+34dbf9d88a28da3794e98c31ee269c408949c794	@DISEASE$ is a rare autosomal recessive disorder characterized by cutaneous ulcers, facial dysmorphism, recurrent infections, and @PHENOTYPICFEATURE$.	false
+e771c5f35eb1e30fa6101061a989e060ab021094	Prolidase deficiency is a rare autosomal recessive disorder characterized by cutaneous ulcers, @DISEASE$, recurrent infections, and @PHENOTYPICFEATURE$.	false
+1448fccb14d597b2c73853b43e2cf350d1e9700a	@DISEASE$ is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+677e5c9987dad8299b395606b344823f3f30e895	Prolidase deficiency is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1ec630a3e6ecd1fa09738b2da9b713afc2d044a0	@DISEASE$ is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with facial dysmorphism and @PHENOTYPICFEATURE$.	false
+a0ea74a96482db166419235eba9ca8a43130a3da	@DISEASE$ is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, mental retardation, @PHENOTYPICFEATURE$, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections.	has_symptom
+9fcea33b3dfafbc06a2d238b754f583c4bebeb54	Prolidase deficiency is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, @PHENOTYPICFEATURE$, @DISEASE$, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections.	false
+07e4f0c5943683abe86bd10726a04393faebe815	@DISEASE$ is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, @PHENOTYPICFEATURE$, unusual facial appearance, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections.	false
+c0487ce7c9c2194f8010465eaec195924663a8ad	Prolidase deficiency is an autosomal recessive disorder that is associated with chronic cutaneous @DISEASE$, @PHENOTYPICFEATURE$, unusual facial appearance, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections.	false
+51117564b3120d5b10e168fe269b13e10753104e	Prolidase deficiency is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, @PHENOTYPICFEATURE$, unusual facial appearance, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic @DISEASE$.	false
+189088b1fb53ec180e3d1eb6b100428345b7026d	@DISEASE$ is a complex disease characterized by various skin manifestations accompanied by mental retardation, @PHENOTYPICFEATURE$ and susceptibility to pyogenic infections.	has_symptom
+ef93830e58d89e1aff8ed6953b83e8ef976b032d	Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by @PHENOTYPICFEATURE$, facial dysmorphism and susceptibility to pyogenic @DISEASE$.	false
+99afafbfa1bdba9a07ea406421f66f1a0b93f8b3	@DISEASE$ is a complex disease characterized by various skin manifestations accompanied by @PHENOTYPICFEATURE$, facial dysmorphism and susceptibility to pyogenic infections.	false
+41645d098aa4dceda1d3d456bd8d37e1dc2b0aba	Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by @PHENOTYPICFEATURE$, @DISEASE$ and susceptibility to pyogenic infections.	false
+19c01a9e15e5bafe2facbaae6a862b296becef4b	@DISEASE$ (PD) is a rare hereditary disease consisting in developmental delay, mental retardation, @PHENOTYPICFEATURE$, splenomegaly, recurrent pulmonary infections and skin lesions.	has_symptom
+9bc1e0e2b97df617e3b1e806d111c36a313ea670	Prolidase Deficiency (PD) is a rare hereditary disease consisting in developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, splenomegaly, recurrent pulmonary infections and skin lesions.	false
+07a4f936c71aac805c01f45f2c562c22e5063478	Prolidase Deficiency (PD) is a rare @DISEASE$ consisting in developmental delay, @PHENOTYPICFEATURE$, facial dysmorphism, splenomegaly, recurrent pulmonary infections and skin lesions.	false
+bd6cf81a62a3c1f07ca2f485c47f67209be4d23b	@DISEASE$ (PD) is a rare hereditary disease consisting in developmental delay, @PHENOTYPICFEATURE$, facial dysmorphism, splenomegaly, recurrent pulmonary infections and skin lesions.	false
+ce43939ccd1e08cc96eb4f166e0ea593922b63ce	Null mutations in the ABHD12 gene lead to @DISEASE$, a neurodegenerative disease including polyneuropathy, hearing loss, @PHENOTYPICFEATURE$, RP, and early-onset cataract.	has_symptom
+9650ee620e1b5fd35e86e5bd63f6b61653cf6e8c	Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including @DISEASE$, hearing loss, cerebellar ataxia, RP, and early-onset @PHENOTYPICFEATURE$.	false
+930b720451d7524bea9ee96c78a01b34005de1c0	Null mutations in the ABHD12 gene lead to @DISEASE$, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset @PHENOTYPICFEATURE$.	false
+a8cba27d6f321ceee8c10ca045d50601bcdb38fd	Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, @DISEASE$, RP, and early-onset @PHENOTYPICFEATURE$.	false
+2e79c1106cf3496e44b2682818220ad8e642f3a3	Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, @DISEASE$, cerebellar ataxia, RP, and early-onset @PHENOTYPICFEATURE$.	false
+94e4f66d80d077f9d0fb70eec466fd54d95e5eb5	Null mutations in the ABHD12 gene lead to PHARC syndrome, a @DISEASE$ including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset @PHENOTYPICFEATURE$.	false
+c90c2ad9375db1e86ddaa780a3b2b141ab85b350	Both LAV and @DISEASE$ significantly decreased lung compliance, increased airway resistance, and caused severe @PHENOTYPICFEATURE$, hypercarbia, and acidosis.	has_symptom
+845c2f2ac5e147a20c739f8935574ffcc3edaa69	@PHENOTYPICFEATURE$ syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (@DISEASE$, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.	has_symptom
+df2d83747630d7ecf391c3168a9e3e41c98ba601	Typical craniofacial features, developmental delay/@PHENOTYPICFEATURE$, seizures and sensorineural defects characterize @DISEASE$.	has_symptom
+9d87459bf7eb926f1aa66d8dfae3ffcbf4443922	Typical craniofacial features, developmental delay/mental retardation, @PHENOTYPICFEATURE$ and sensorineural defects characterize @DISEASE$.	false
+087c10a9ebc76b02855c2787c46d41b5c08ceabf	Typical craniofacial features, developmental delay/@DISEASE$, @PHENOTYPICFEATURE$ and sensorineural defects characterize 1p36 deletion syndrome.	false
+348e6487d00778cb136959f716cfd25f71d00971	Proximal interstitial @DISEASE$: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and @PHENOTYPICFEATURE$ patient with inv(3)(p14.1q26.2).	has_symptom
+6934c7938cf069adcb70852778345abdda882d3c	@DISEASE$ (SGS) is characterized by severe marfanoid habitus, @PHENOTYPICFEATURE$, camptodactyly, typical facial dysmorphism, and craniosynostosis.	has_symptom
+6f2f883adfcd681a6f39e05569f4a35cd0b23392	Shprintzen-Goldberg syndrome (@DISEASE$) is characterized by severe marfanoid habitus, @PHENOTYPICFEATURE$, camptodactyly, typical facial dysmorphism, and craniosynostosis.	has_symptom
+d190d89ff8a323e549a6b8de951ab0d7d7c936f3	Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, @DISEASE$, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+08a541cd5828f9118f32074d275ab2d326c3f4dd	Shprintzen-Goldberg syndrome (@DISEASE$) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+b77d5b839aa7d7bc8bb1ae6401051232549fcf83	Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and @DISEASE$.	false
+674a8fbbc37e7f804dd03daaa23b91530d62b5d1	@DISEASE$ (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+071a733ff81c3fb42be4df09bdefee03944b8087	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	has_symptom
+cb1c63ecd788ce6249714107b61991227d9b6ba6	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple @DISEASE$ including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+60d28f6dd1cdfbcdcecf9be44d08aed54b38f281	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+7b5821cc8d000e0d2c2d62eb3a0cca9e59486683	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @DISEASE$, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+849edad3077d86cc0dccf819e1d0200caab0e3bd	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple @DISEASE$ including skeletal, genitourinary, renal and cardiac abnormalities.	false
+ba253fe1a90b88e061026a3bbb06675f9372b6ff	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+51afe4852a33c21e108145f646f3a0464750389c	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @DISEASE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+98f0c14959e5fdc837c1f7a413c38616083e929d	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+1cd0d59373161ffbc7ecf76da2e9309c6bdaa5e3	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+80cd42597f6c1837fa8688e479eee835289039ff	@DISEASE$ (SGS) is a rare disorder characterized by a Marfan-like habitus, @PHENOTYPICFEATURE$ and craniosynostosis.	has_symptom
+117681542ff8ac688d85d61e29eeccf679f8bf6c	Shprintzen-Goldberg syndrome (@DISEASE$) is a rare disorder characterized by a Marfan-like habitus, @PHENOTYPICFEATURE$ and craniosynostosis.	has_symptom
+e69807f65bef2a0b6fd013fc2f1e9eaf008dd4bd	@DISEASE$ (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, aortic dilatation, and @PHENOTYPICFEATURE$.	has_symptom
+130944a6e642aa93edb4e7d8158f6feaeafc6842	Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, @PHENOTYPICFEATURE$, marfanoid body habitus, aortic dilatation, and @DISEASE$.	false
+0f1a532c51289dd3c04c3af0cf36ae040afe0206	Shprintzen-Goldberg syndrome (OMIM #182212) is a connective tissue disorder characterized by @DISEASE$, distinctive craniofacial features, @PHENOTYPICFEATURE$, marfanoid body habitus, aortic dilatation, and intellectual disability.	false
+38ae739abb909b457777a32b70b7c2bd67d89297	@DISEASE$ (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, @PHENOTYPICFEATURE$, marfanoid body habitus, aortic dilatation, and intellectual disability.	false
+46cbb59be8862acb9bd2e4583a0f29230c584500	Craniosynostosis, Scheuermann's disease, and @PHENOTYPICFEATURE$ resembling @DISEASE$: a report on a family over 4 generations: Case report.	has_symptom
+ee0a0b10ccc1def006181180f00700d68840eb57	Herpes simplex virus type 1 is a major cause of @DISEASE$ and @PHENOTYPICFEATURE$ in humans.	has_symptom
+90d481d8673154f9a6902c7ff2e2abcb64bbc061	Vomiting, @PHENOTYPICFEATURE$, and altered mental status in an adolescent: late-onset @DISEASE$.	has_symptom
+9cba2a72c9415d57ed1e52ce7f7850a4125f2db2	In this case we describe a girl with late onset @DISEASE$ presenting with transient mutism and subsequent dysarthria, @PHENOTYPICFEATURE$ and behavioural changes.	has_symptom
+c2abcb0ea255fca56522a591e4932fd71e1d4795	The differential of acute and recurring @PHENOTYPICFEATURE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	has_symptom
+4ee3671c8a2374ee34eddb151084509080ce2e00	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and @DISEASE$.	false
+557a9d2e670dc1f39d40845879f8776055173a50	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+a500462817173bf6af13db09c6eb609920415a1a	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, @DISEASE$ (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+36c1373dcb0309cab7d74732b802e95fe145157c	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+8991b6786275d63c5588e41e900b2a33579a168e	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, @DISEASE$, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+f0dcb711168ddc1f3ee4d879dbb2be47a91a7548	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, @DISEASE$, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+c5d24f23bdfafd688784f97d822825b38c26e379	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+96ce6afe40ea6e1bf0be4ca13106aea79a7ccc43	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+7ffded346dcbcf4bd08ef11ae093787a50c7ed1d	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+b71c4245de23e69d751d53251d1289a3e3153b8b	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult @DISEASE$, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+166dd1e23c8aec7968a555793c153bd74d2808cf	The differential of acute and recurring @DISEASE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+229dfba32670b6175e59f9af58c797d7734ab43b	Hepatopulmonary syndrome (@DISEASE$) is an important cause to be aware of in the setting of liver disease, @PHENOTYPICFEATURE$ and hypoxaemia.	has_symptom
+43251a787491f2f002d230e848e3f9b064ba959c	@PHENOTYPICFEATURE$ was more often present in patients with "clinically significant" HPS (57%) compared with "subclinical HPS" (8%), and patients without @DISEASE$ (6%).	has_symptom
+007cf24f86968967e63444c511139de25578a484	@DISEASE$ is the most common of the urea cycle disorders and frequently presents with coma or @PHENOTYPICFEATURE$ during hyperammonemia.	has_symptom
+8ae171717b2e1cc27f9c6ae0439f839048e82228	We experienced a case of a 3-day-old boy with @DISEASE$ who appeared healthy in the first 2 days of life but developed lethargy and @PHENOTYPICFEATURE$ soon afterwards.	has_symptom
+a1f247081fedd59ba4e83b0f5db9c3cb606abd22	Development of the progressive confusional syndrome, associated with an increase in @PHENOTYPICFEATURE$ frequency after VPA treatment onset, obliges us to rule out VHE by screening for blood ammonium levels and the existence of urea cycle enzyme deficiency, such as @DISEASE$.	has_symptom
+d3730271e33392d4366dffe8b2c49803852b5f9c	A large percentage of survivors of neonatal @DISEASE$ suffer severe developmental disorders, including @PHENOTYPICFEATURE$, mental retardation and cerebral palsy.	has_symptom
+44f240d35e8e00fabec63436a358252cad830081	A large percentage of survivors of neonatal @DISEASE$ suffer severe developmental disorders, including seizures, @PHENOTYPICFEATURE$ and cerebral palsy.	false
+b105a6a44818bb944e32ba25c72b4167b82f9e8e	A large percentage of survivors of neonatal OTC deficiency suffer severe developmental disorders, including @DISEASE$, @PHENOTYPICFEATURE$ and cerebral palsy.	false
+77443ae6f1a7bb5954f71c403380fa43d5850c61	Increased brain content of the excitatory amino acid aspartate could be responsible for the @PHENOTYPICFEATURE$ frequently encountered in congenital @DISEASE$.	has_symptom
+8105377cd7ccf1d919592766e930cb0ea3879b6a	We present the case of an adult patient with partial @DISEASE$ who presented with encephalopathy, coma, and @PHENOTYPICFEATURE$, accompanied by hyperammonemia and treated acutely with hemodialysis.	has_symptom
+c753823b34d7247b41c072ac7c993b444ca8d6c5	We present the case of an adult patient with partial OTC deficiency who presented with @PHENOTYPICFEATURE$, coma, and @DISEASE$, accompanied by hyperammonemia and treated acutely with hemodialysis.	false
+954aeac79b777ea667f6984bf1a4f5ea1cf26bd1	We present the case of an adult patient with partial @DISEASE$ who presented with @PHENOTYPICFEATURE$, coma, and seizures, accompanied by hyperammonemia and treated acutely with hemodialysis.	false
+5de334d54202caa105403cf0ed57a15b0f199bb9	A diagnosis of @DISEASE$ should be considered in adult patients who present with unexplained hyperammonemic coma and for all adult patients presenting with cryptogenic new-onset @PHENOTYPICFEATURE$ and laboratory finding of elevated blood ammonia levels.	has_symptom
+a971100d50f15e02d8cb06273eea618e1906f933	The main neurological manifestations of @DISEASE$ are discussed, emphasizing in the first place the role of the PAVF on the genesis of cerebral @PHENOTYPICFEATURE$ and brain abscess and occasionally a cerebral thrombosis caused by polycythemia and in the second place the vascular malformations of brain and spinal cord.	has_symptom
+6ea63d2e2bb8b12a99ab4676f004e4ccaa86ed8b	In more than 200 reported patients with @DISEASE$ involving the nervous system, 61% had lesions seondary to a pulmonary arteriovenous fistula (cerebral @PHENOTYPICFEATURE$, paradoxical and septic emboli, and brain abscess).	has_symptom
+44637a3478717b05c187daeca4048ba8b74b1364	We report a 1-year-old girl with @DISEASE$ with multiple malformations of the oral cavity, face, digits, and central nervous system, including @PHENOTYPICFEATURE$, the presence of intracerebral cysts, and agenesis of the cerebellar vermis, which is associated with the subarachnoid space separating the medial sides of the cerebellar hemispheres.	has_symptom
+d5b3b42ac391a91311ca386b4b29165dddb24742	@DISEASE$ associated with polycystic kidneys and @PHENOTYPICFEATURE$.	has_symptom
+e1801286d91107cd1d698b44b4a19cb645586399	A female patient with @DISEASE$ associated with pachygyria, heterotopic gray matter, interhemispheric cyst, @PHENOTYPICFEATURE$, and a Dandy-Walker anomaly is reported.	has_symptom
+633fa2208ddc01761c21b625065c041158c9aadf	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @PHENOTYPICFEATURE$, polydactyly and skeletal dysplasia.	has_symptom
+911af9923543fcd2109d84103f76ae12c4954342	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+47b1b4da56da322abbcb77141719883791a93185	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+21a88a9342ca7120163cb8bb836dd1f663133223	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly and skeletal dysplasia.	false
+fbb980871f1010ea5ed876866814ba6c6cb1082e	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @DISEASE$, polydactyly and @PHENOTYPICFEATURE$.	false
+143780ed79cc95db9afeaf25c3b4c4f5af98109d	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, @DISEASE$, polydactyly and skeletal dysplasia.	false
+51b14f54035c10952b123cd13c0e129c0b30f2a5	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+e2237394606c0a1c902331aaad2ecfdcf65fbc21	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+e069caa98cfdc66f03df2becc7a3abbf5c7ce151	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+87f20d24332f486a006838682f6eba95bcf535af	We report a female case of @DISEASE$ (OFD I) associated with polycystic kidneys and @PHENOTYPICFEATURE$.	has_symptom
+38cea6f12d5d81fab63522af473870a91011b296	Several reports indicate that mutations in NSMF are related to @DISEASE$ (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with anosmia or @PHENOTYPICFEATURE$.	has_symptom
+b38ad529a512df2b0be491de12b9c75e31ae073e	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+be5617298f2ca01461a1af943798039f0fc1d440	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (@DISEASE$) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+5f5456ef6f5a3925c4774d9c9d168e43ec46c254	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic @DISEASE$ (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+854c06b4a8258d3e90ba0383347783040e9200b1	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental @DISEASE$ characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+fba646ad94fccc9d10bf25fdcc45826c99abbe7b	Several reports indicate that mutations in NSMF are related to @DISEASE$ (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+4145d0c6f897c3d6573c7cb858a091bdf7e026c2	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (@DISEASE$), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+8e068afb0d00cbebd831f37fe10d626522aa3116	She was diagnosed as having an @DISEASE$ with metastatic @PHENOTYPICFEATURE$.	has_symptom
+1e1d1079a6fea35c2e0cd098a47214cd9c0af31d	Distant metastasis (@DISEASE$) from @PHENOTYPICFEATURE$ has a poor prognosis.	has_symptom
+2ef64ef5a8cc8892b684d13cf8f8e2ed22bdcbf2	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	has_symptom
+c6ef651b7179381a1725b8c920ca9e52cfb9d968	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	has_symptom
+49601ca5ebad977ea60a905a2abc22e5c939b55c	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, @DISEASE$, and cognitive impairment of variable degree.	false
+bddc620043ed877e3c2b23607ce8fa9dbe1e3677	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+e2cd19de4a0179e20254a98988795ca6067dc70a	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+aa22b11c4ce544ca238f726495d22dae43c0b226	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+9b72aea795d1e17433cd21345c7b579ff67e6c44	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @DISEASE$, and cognitive impairment of variable degree.	false
+47d6d4a4f790c640cb87725eb40811085869f2fd	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+65ecb520eedc3f612c802fa92683d5f845a11f2e	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+aefd13d2b8b4cea268741d7b3d86d49cb61397be	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+b7608d04be3f560b5cff581ec03b8d91d4b50168	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+22b2dc1c98b499d88ece4031a9698d62f07fdd8a	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+d3bb9fbf6ffad775e46a4a0c8f13b458f5f4205f	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+25757f1760e20cd3bf1d5885d430633d79e1e570	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+8bd9a6626518e4f138916a223ed447bc77fa5d58	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+1d1c81cd2e23b8e3d64802bcded2c24cf1006545	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+cf71090b69914eb3e074e4dd16c2d29bb16c6c4c	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, @DISEASE$, and cognitive impairment of variable degree.	false
+ae50a1d3f8315bcb6196d844d60814a8cb70f3a3	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+fba9c268005b4e791af0e40ce65dc95eed141dc2	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+5b033025f1da3fc1f071c50bae32281505071fae	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+edfe867c02c679faa925b7c12d99f61fa02359db	The patients presented with the characteristic symptoms of Jacobsen syndrome (@DISEASE$), including: mental retardation, @PHENOTYPICFEATURE$, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	has_symptom
+b947b71fec71d96ec44106bc09f09f79440e56b7	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ @DISEASE$, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+4dda9c2d06069950d619f735f4a803c5e3ba51ed	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye @DISEASE$, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+28f42403671e2114b47d55408708dea07dec8cc6	The patients presented with the characteristic symptoms of Jacobsen syndrome (@DISEASE$), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+168da06e150cf91a0ac2d71129d94aa6dadfac80	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and @DISEASE$, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+5e2322f170679ce8a2415f55f2eac9e257d17a89	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, @DISEASE$ and toe anomalies in single cases.	false
+8c4f73535814c7aa6cd34d4d296e71edf2965111	The patients presented with the characteristic symptoms of @DISEASE$ (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+4d7dfb94d64b0e44a6acfb0fd7a2ff57b33f9ba5	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, @DISEASE$ and toe anomalies in single cases.	false
+d821f32035807b5e07bf38ab1fbe30caad168283	The patients presented with the characteristic symptoms of Jacobsen syndrome (@DISEASE$), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+def90852ba7146617db56abb366cc1f9e5048f1c	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and @DISEASE$, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+167e8b639ebe7125a8cdda88b2ab13ce05bbd1e4	The patients presented with the characteristic symptoms of @DISEASE$ (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+2704f4213997d42ac446be43a2ed8ee06140ef84	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, @DISEASE$, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+fc6010f1e53d68111af79dde4d2ce75ba98d5519	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+89a1758ca3de47916232b854bfe34c943d8e3330	@DISEASE$ (@PHENOTYPICFEATURE$, DT) is a soft tissue neoplasm prone to recurrence despite complete surgical resection.	has_symptom
+730a06e9b9697daacaf79f04f039f329da306af3	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament tumor, fibrous tissue tumor hyperplasia, tendon membrane @PHENOTYPICFEATURE$ or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+b7963213db40616c9c806ac89cbc9ef0fc2af40d	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue tumor @DISEASE$, tendon membrane @PHENOTYPICFEATURE$ or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+d175a957776875bcc04d5d866b0790e94f9173b4	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament tumor, fibrous tissue @PHENOTYPICFEATURE$ hyperplasia, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+089d993c7f52fda506e8ff6037e21a2574a88989	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue tumor @DISEASE$, tendon membrane fibroma or soft tissue ligament @PHENOTYPICFEATURE$, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+b18beb81e8e8a7964af28d27ffc98438729efd50	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament @PHENOTYPICFEATURE$, fibrous tissue tumor @DISEASE$, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+d29c3f4055d036f7745dc1cf773d6c244931ec9b	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament tumor, fibrous tissue tumor hyperplasia, tendon membrane fibroma or soft tissue ligament @PHENOTYPICFEATURE$, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+d5de7fb43daf27e97ea011167ed22c197f43d264	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue @PHENOTYPICFEATURE$ @DISEASE$, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+fa2ed3f039c88ad254ba56531ea43010e913f465	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament @PHENOTYPICFEATURE$, fibrous tissue tumor hyperplasia, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+857883c256aff402b54b4dc3c5dd5e75316dad6f	A clinical situation involving the coexistence of high             interferon?? levels and lymphocyte activation is the Aicardi-Gouti?res syndrome,             a progressive encephalopathy arising usually during the first year of life characterized             by intracranial basal ganglia calcifications, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+4a095a5b5bbced413d8dbdd9dbce39a257c3e25d	A clinical situation involving the coexistence of high             interferon?? levels and lymphocyte activation is the Aicardi-Gouti?res syndrome,             a progressive encephalopathy arising usually during the first year of life characterized             by intracranial @PHENOTYPICFEATURE$, leukodystrophy and @DISEASE$.	false
+31fa4d1173a7d006eafbc617b0f72d2a3cc3cbae	A clinical situation involving the coexistence of high             interferon?? levels and lymphocyte activation is the Aicardi-Gouti?res @DISEASE$,             a progressive encephalopathy arising usually during the first year of life characterized             by intracranial @PHENOTYPICFEATURE$, leukodystrophy and microcephaly.	false
+44136affb2c2bd4e4e42966f5290734943632a15	A clinical situation involving the coexistence of high             interferon?? levels and lymphocyte activation is the Aicardi-Gouti?res syndrome,             a progressive encephalopathy arising usually during the first year of life characterized             by intracranial @PHENOTYPICFEATURE$, @DISEASE$ and microcephaly.	false
+52ed0ee1882ba9e6d4ae8695204c140060c9c5d6	A clinical situation involving the coexistence of high             interferon?? levels and lymphocyte activation is the Aicardi-@DISEASE$?res syndrome,             a progressive encephalopathy arising usually during the first year of life characterized             by intracranial @PHENOTYPICFEATURE$, leukodystrophy and microcephaly.	false
+49ac6a986fd7343d39c1ca4585afff798d7c6b99	Ornithine transcarbamylase deficiency (@DISEASE$) is an inborn error of urea synthesis inherited as an X-linked trait, a clinical manifestation of which is a repeated episodes of hyperammonemic @PHENOTYPICFEATURE$.	has_symptom
+a8e50b61afe5672298cd9d2f9ba0585d203a5ab6	@DISEASE$ (OTCD) is an inborn error of urea synthesis inherited as an X-linked trait, a clinical manifestation of which is a repeated episodes of hyperammonemic @PHENOTYPICFEATURE$.	has_symptom
+b8720c85d3ba49e9d7bb7b14be2065f7027eed84	A large family with @DISEASE$ due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic @PHENOTYPICFEATURE$.	has_symptom
+d1d657478c7d7dc37a0c3648bd41139694e96462	Cerebral atrophy after hyperammonaemic @PHENOTYPICFEATURE$ in a 23-year-old woman with @DISEASE$.	has_symptom
+ff70a697f3214b462dc16dfaeb3664c0bed54cd9	@PHENOTYPICFEATURE$ after hyperammonaemic coma in a 23-year-old woman with @DISEASE$.	false
+bd14ca265bc8ada8ab5951b7b5364b277177d852	@PHENOTYPICFEATURE$ after hyperammonaemic @DISEASE$ in a 23-year-old woman with OTC deficiency.	false
+478b9a6f223542fede5d33d577624515d1ced274	In contrast to the non-plaque type with classic @DISEASE$ features, the plaque type commonly presented with @PHENOTYPICFEATURE$ as an initial manifestation, relatively slow progression of neurologic symptoms, and no or late occurrence of periodic sharp-wave complexes (PSWCs) on EEG.	has_symptom
+e74bc771c94ddfe2005f49b9e68213354be69374	@DISEASE$ (CS), caused by defects in TCR, is a rare DNA repair disorder with a broad clinical spectrum that includes @PHENOTYPICFEATURE$.	has_symptom
+73f0fd91894f0955d5ffb4c05dfd9cee703c76e5	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and @PHENOTYPICFEATURE$.	has_symptom
+cbb9091c0f1c3687f21a22907de9c22bfeda8547	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+127c5bd253853ad7963ea99ce6278c429b3a2e03	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+ef00c9a610a99a496c4cbde554096aa6fafdd060	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, cataract, and @DISEASE$.	false
+57321a3711e864fd41c002290f6846e68f670f3d	Cockayne syndrome is a rare autosomal recessive @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+d082dbf922943c6c450441330d3d2325023892d9	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; @DISEASE$ retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+e78a85457e0ee9216760e82e66574cce55685c80	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, cataract, and sensorineural hearing loss.	false
+fa196d6b404ffc281913dfa0e917b76e2f2771db	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; @DISEASE$ retinopathy, cataract, and sensorineural hearing loss.	false
+f3b8e5b5e488d5b9c42d2c326ae0d3b2d9ca1499	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary @DISEASE$, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+7094fe9c5552b753cbd6d00551b6bf6cb4a42fc0	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary @DISEASE$, cataract, and sensorineural hearing loss.	false
+23cde0d9775b741623231ff12e75aee883686d00	Cockayne syndrome is a rare autosomal recessive @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, cataract, and sensorineural hearing loss.	false
+ce2f973d496fc865d7ca559833b38dc0ccba80eb	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	has_symptom
+6922c9da762522efcf00606359ba66f871ada15f	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+a32f0c4aabebb94ea0661b24c4e87f128c6527d1	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary @DISEASE$, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+aafa01a1c4656098d30bbdc4756b68ec0966b704	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, @DISEASE$ retinopathy, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+cf20931117f6482eacb2c20146638638888fe65b	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+b7bb7579425f528a9829df1744705fa71c80e1ff	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary @DISEASE$, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+667b5c6da4b01e25f3285033cf2c036c42e91d6f	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary @DISEASE$, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+dc1e97b90dd972fdce2f0b1e2e9fb3e88acb3cf4	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary retinopathy, cataracts, @DISEASE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+ef4d3b233343b4c5d83d411138ac66e4f2417464	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary retinopathy, cataracts, @DISEASE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+13835b050da509374e07c75139017c32f3bde9a6	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, @PHENOTYPICFEATURE$, @DISEASE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+f9a9eecbc8e09274a8bd2b1753be9c3905e8ec84	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+6d1091d7e89139df9139e673b2f801fa4363e2df	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, @DISEASE$ retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+7b4fac8aa354698c59897f4ecd20f22e7d81252d	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, @DISEASE$ retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+7c104f50cff6f72c0902cbd42f77c778ca484661	Progressive @PHENOTYPICFEATURE$ is observed in a subset of NER-associated DNA repair disorders including @DISEASE$ and some forms of xeroderma pigmentosum.	has_symptom
+546c7f1881998d434675fcfc2c63bc01a8d861f8	@DISEASE$ (CS) is a rare human disorder characterized by pathologies of premature aging, neurological abnormalities, @PHENOTYPICFEATURE$ and cachectic dwarfism.	has_symptom
+c5d108bef02ae46fd6df282b173f3a7e92335613	Cockayne syndrome (CS) is a rare human disorder characterized by pathologies of premature aging, @PHENOTYPICFEATURE$, @DISEASE$ and cachectic dwarfism.	false
+5ee9755fda3c66efd0bfded3503625dab89de04c	@DISEASE$ (CS) is a rare human disorder characterized by pathologies of premature aging, @PHENOTYPICFEATURE$, sensorineural hearing loss and cachectic dwarfism.	false
+aede0e148fd5bf410e8ae1573e97e7493ea26259	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and @PHENOTYPICFEATURE$.	has_symptom
+79bb38cf640e9e045c6347e37ca4ee47735ba9dc	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary @DISEASE$, @PHENOTYPICFEATURE$, or both; and sensorineural hearing loss.	false
+a6a2476d2fb607f1104815cb94c4083e20cd83a8	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; @DISEASE$ retinopathy, @PHENOTYPICFEATURE$, or both; and sensorineural hearing loss.	false
+9640661003f3bff060f49d54751d2acb1fee7444	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, or both; and sensorineural hearing loss.	false
+6d03a1f87f23e703d52afa8ac7fca53626bfca0b	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, or both; and @DISEASE$.	false
+b00ae9c37ce913fa5c018a4c8fe33d71bbdc1bcf	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, or both; and sensorineural hearing loss.	false
+403b737a03bd62b03a742761846f48b281d25be8	@DISEASE$ (CS) is a human hereditary disease belonging to the group of segmental progerias, and the clinical phenotype is characterized by postnatal growth failure, neurological dysfunction, cachetic dwarfism, photosensitivity, @PHENOTYPICFEATURE$, and retinal degradation.	has_symptom
+2f011d0d102f43dc75ba2f6d255369d7f2ce006d	@DISEASE$ CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	has_symptom
+17a36cacf288e19f76892fd3f5efd6d40e6bb4e4	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, @DISEASE$, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+9be08c7f17d4edadeba854ec6436895a4cb9e75d	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive @DISEASE$ caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+dbe1b4015e8750886959825bdd7c483a0bfc35aa	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary @DISEASE$, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+fe7bd5939c0b9dbef02931723f4527d601a9ab90	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, @DISEASE$ photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+dd63be5dece26a861d4ad515c93d32e2e104b9d6	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral @DISEASE$, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+59f76909bf19925047ac66e184bd57045e27e79b	@DISEASE$ CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+2a6cf6b87eaaa32c4dfbb59e84de38c791fd7579	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive @DISEASE$ retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+62786319fb21cf540bf15190fe8ff1656178a8af	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and @PHENOTYPICFEATURE$.	has_symptom
+c5b28c4356099e47690b691ef656ac5b80568653	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.	false
+2a7b7434ec98db6785adb938455657a8d5a9a3c8	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary @DISEASE$ and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+76a3fd0f880c90f00999e60bae36c3080b231f74	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or cataracts, and @DISEASE$.	false
+dc202672d589dd85c14c63ae0f6b0c4d2c4355bf	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+a15073af271a5f6ca9d6a39c4cb3211c8fb528bd	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+c90924cccfbdeaa6dd923aa5be96f52e87199757	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6640c4ed8cd241f1b12425cd6f64652c07c6257e	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.	false
+abdc7894815ac8abb6eb530f16d9c28e4e2bd3f8	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary @DISEASE$ and/or cataracts, and sensorineural hearing loss.	false
+4b54f18746fb0f2e42a9ac5edfb003a390e22767	Although @DISEASE$ is a rare entity, especially in the Chinese population, an unusual presentation with orbital masses and bilateral @PHENOTYPICFEATURE$, associated with systemic features, should raise the suspicion of this serious and potentially fatal disease.	has_symptom
+a3e891d69d915e2dfe5145c15e6104d47982a03e	Intraosseous @PHENOTYPICFEATURE$ is a benign tumor, and other diagnoses must be ruled out (histiocytosis X, @DISEASE$, clear cell carcinoma metastasis).	has_symptom
+315ded10a337bf9f023742d42ffc699570c91a19	Intraosseous xanthoma is a benign @PHENOTYPICFEATURE$, and other diagnoses must be ruled out (histiocytosis X, Erdheim Chester disease, @DISEASE$ metastasis).	false
+86c873410509748db373593ba41a0ea7a52083c2	Intraosseous xanthoma is a benign @PHENOTYPICFEATURE$, and other diagnoses must be ruled out (histiocytosis X, @DISEASE$, clear cell carcinoma metastasis).	false
+59fc804f6ed7b28c43bc8a9ee926d00693476f06	Intraosseous @DISEASE$ is a benign @PHENOTYPICFEATURE$, and other diagnoses must be ruled out (histiocytosis X, Erdheim Chester disease, clear cell carcinoma metastasis).	false
+32e8ff053262bbd4b64b47d6f2195c62b92c8848	A heritable syndrome of craniosynostosis, short thin hair, @PHENOTYPICFEATURE$, and short limbs: @DISEASE$.	has_symptom
+32ae204d3b09361e28fbc9e9ab99335c056add89	A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and @PHENOTYPICFEATURE$: @DISEASE$.	false
+149be8eefaddf7683643ab31dea6f05ea356d914	A heritable syndrome of craniosynostosis, short thin hair, @DISEASE$, and @PHENOTYPICFEATURE$: cranioectodermal dysplasia.	false
+1463edf8c4c8ba330da0f21db0c1bc6774aa7b80	A heritable syndrome of @DISEASE$, short thin hair, dental abnormalities, and @PHENOTYPICFEATURE$: cranioectodermal dysplasia.	false
+4ba482f5801d53b62e11b02e0741ce450adc0666	Neurological outcome is determined by an increased risk of perinatal and neonatal @PHENOTYPICFEATURE$ in the first days of life of @DISEASE$ patients.	has_symptom
+4ba482f5801d53b62e11b02e0741ce450adc0666	Neurological outcome is determined by an increased risk of perinatal and neonatal @PHENOTYPICFEATURE$ in the first days of life of @DISEASE$ patients.	has_symptom
+acc83830f9b3153b08fa32f14e2e7033c86262ae	Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+d91a859e00fdb095ac12b8f7214735ae299da99f	Autosomal-recessive neural crest syndrome with @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut, and deafness: @DISEASE$.	false
+9c04e38e8c94b00f520ca4401de05474f412d844	Autosomal-recessive neural crest syndrome with @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut, and @DISEASE$: ABCD syndrome.	false
+0e0f511b07dd73be055972e8b07ca2f6a8f1fb95	@DISEASE$ is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and @PHENOTYPICFEATURE$.	has_symptom
+b3d9d6c45081b0df6b2f2b48ff4789b8deff575f	ABCD syndrome is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and @DISEASE$.	false
+346f6d3f16a6b1ebdf22fdd85ade40614d7b626e	ABCD syndrome is an autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness.	false
+8e89fb407bced5f23fef9942e3d34137efc54afd	@DISEASE$ is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness.	false
+87abd6adeaff262d85b55b9fa67657d607fb5889	ABCD syndrome is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, black lock, cell migration disorder of the neurocytes of the gut (@DISEASE$ [HSCR]), and deafness.	false
+12390e82f2160a93681a8d9f32fefad243b86073	Concomitant total adrenalectomy and a contralateral PA were performed in a patient with primary macronodular @DISEASE$ that exhibited mild hypercortisolism, arterial @PHENOTYPICFEATURE$, and diabetes.	has_symptom
+d818790e29aef805956407b05f3ecbcaa157dad0	It is the second major form of @DISEASE$ associated with @PHENOTYPICFEATURE$ and hypopotassemia.	has_symptom
+fb5404a4877f25ad847975877ce8908a48912f1e	Investigation of adrenal incidentalomas led to the discovery of a family (eight affected individuals spanning three generations), prone to cortisol resistance, bilateral @DISEASE$, arterial @PHENOTYPICFEATURE$ and hypokalemia.	has_symptom
+f2d9d81045e94d654c0fd655a43ad34dad7f87bb	Investigation of adrenal incidentalomas led to the discovery of a family (eight affected individuals spanning three generations), prone to cortisol resistance, bilateral adrenal hyperplasia, arterial @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c3b996449e1ef7385fe123b524eab7348ea9732a	Investigation of adrenal incidentalomas led to the discovery of a family (eight affected individuals spanning three generations), prone to cortisol resistance, bilateral @DISEASE$, arterial hypertension and @PHENOTYPICFEATURE$.	false
+94aa8c7cea651f04d9933e443e69cb208c20d215	The simplicity and rapidity of genetic testing allows early diagnosis of this disease among families with early onset @PHENOTYPICFEATURE$ and associated hyperaldosteronism with or without @DISEASE$ and/or a tumoral formation.	has_symptom
+4e4dfe88fce2656f01dc261aad48d58d7582de8a	The simplicity and rapidity of genetic testing allows early diagnosis of this disease among families with early onset hypertension and associated hyperaldosteronism with or without @DISEASE$ and/or a @PHENOTYPICFEATURE$ formation.	false
+60cb40b40484f52441ace59fbf9dd3279c804c8a	The simplicity and rapidity of genetic testing allows early diagnosis of this disease among families with early onset hypertension and associated @PHENOTYPICFEATURE$ with or without @DISEASE$ and/or a tumoral formation.	false
+39acd94d9534b6140ab74362818566fef993a25d	The simplicity and rapidity of genetic testing allows early diagnosis of this disease among families with early onset @DISEASE$ and associated @PHENOTYPICFEATURE$ with or without adrenal hyperplasia and/or a tumoral formation.	false
+9ea47387bd25696d3a9cbfdcf1e5310e2b38d757	The simplicity and rapidity of genetic testing allows early diagnosis of this disease among families with early onset @DISEASE$ and associated hyperaldosteronism with or without adrenal hyperplasia and/or a @PHENOTYPICFEATURE$ formation.	false
+29349c928535b769591b867b9e042a15e35d6dcf	Thirteen patients had essential @PHENOTYPICFEATURE$, 6 had probable bilateral @DISEASE$ and 12 had confirmed Conn's adenoma.	has_symptom
+4db75331d6f27af54ba8495f31c6224174b43280	Atypical cutaneous melanocytic @PHENOTYPICFEATURE$ arising in two patients with @DISEASE$.	has_symptom
+20e22768a22abe773c5ad26f0b071a6b8aad0b92	Tissue-specific expression of SV40 in @PHENOTYPICFEATURE$ associated with the @DISEASE$.	has_symptom
+8d03ff1ca442777405f268acc191575b8bc82c89	All @PHENOTYPICFEATURE$ with the identified intron mutation were @DISEASE$ tumors.	has_symptom
+ebabcbddbe3e33c290dab9ef1de09584636cd5d6	All tumors with the identified intron mutation were @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+60ddc23ec5f52832e9f1e7b6a5000f85ee1d299c	Novel oncogene amplifications in @PHENOTYPICFEATURE$ from a family with @DISEASE$.	has_symptom
+7b47e45ee617143ec807e4236df6934a9b56c6bc	@DISEASE$ is associated with early onset @PHENOTYPICFEATURE$ and development of recurrent primary tumors.	has_symptom
+fa85eba7f660ba1e46a394b1780f450a31bea6ac	@DISEASE$ is associated with early onset neoplasia and development of recurrent primary @PHENOTYPICFEATURE$.	has_symptom
+9cc3a78959206f0d119c151ffb154e1b28bbf6c3	Breast cancer is the most prevalent @PHENOTYPICFEATURE$ entity in @DISEASE$.	has_symptom
+d8e82e58eb24ec761da1f449b03fd283b9da5806	Two metachronous @PHENOTYPICFEATURE$ in the radiotherapy fields of a patient with @DISEASE$.	has_symptom
+7dcaad664a40ae11bd94484d1623766eefdbca5f	@DISEASE$ (LFS) is associated with germline mutations in the @PHENOTYPICFEATURE$ suppressor gene, TP53.	has_symptom
+010cf8affa02635388336001c618b4eb6df2e95d	Revisiting @PHENOTYPICFEATURE$ patterns and penetrance in germline TP53 mutation carriers: temporal phases of @DISEASE$.	has_symptom
+096a2f7ff84b87d618b6d34b3bb06dc8c8c649a4	Both @PHENOTYPICFEATURE$ were consistent with @DISEASE$.	has_symptom
+d1cf52c206c773b8bb155a681ce50b5bbc4c7657	Wolfram syndrome (@DISEASE$) is an @PHENOTYPICFEATURE$ neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	has_symptom
+8182349afd8aa2eb87c0eb5307c034de5464ab4d	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by @DISEASE$ (DM), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+613dc257ce985c701732094ffc183942f0a91d75	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative @DISEASE$ characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+e06e09061edc0151b32156738478e014f2820521	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by @DISEASE$ (DM), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+2070adc6944206513a9663130a548f3294dfa72d	@DISEASE$ (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+63d047e0498c07647aa5b4e7d19d0221ae370309	Wolfram syndrome (@DISEASE$) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+c81992eb7bc6cb1745a329c54365f7ae4c162308	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative @DISEASE$ characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+eed6b964c44184adac97049964b15273082eae43	Wolfram syndrome (WS) is an @DISEASE$ neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+95d51b124a2b71d524c503937c1ec72bd8d987c3	Wolfram syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+4b9e8bd979a80996b5aeb0e72af0fc3c361e68b7	@DISEASE$ (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+4d87e1114df0bfb8d9b7da1f27a78f615fb60bd2	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ @DISEASE$ characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+48935d38d2acb3599c2a2de616381d853307c6dc	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (@DISEASE$), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+434a29c94504ee5ae0f542b9c373074cb13928f5	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), @DISEASE$ (CDI) and @PHENOTYPICFEATURE$ (D).	false
+1fc211bd278c3080edd5e2ac03521c73ead846e9	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by @DISEASE$ (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+f1fc8e6753ae1093b42c0473ef965f26a843b94c	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (@DISEASE$), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+d36a60360349e219b645ebdd32c2293fbba3a8e1	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (@DISEASE$), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+cc27ca53908d299b49bea31bd68a301977c2e846	Wolfram syndrome (WS) is an @DISEASE$ neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+4457fa246981cfadee3790d6b4454a5358856550	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), @DISEASE$ (CDI) and deafness (D).	false
+d0af9175ea456a1c23c924577d06873ff021729f	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), @DISEASE$ (CDI) and deafness (D).	false
+667f8501bf16b6bde6f09e04f921b527b93c4a36	Wolfram syndrome (WS) is an @DISEASE$ @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+0ab8d80ebd27f59b564f894059d0356bab4d4a00	Wolfram syndrome (@DISEASE$) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+384b65f672b7a9d5156135485e048649d37d9cbe	@DISEASE$ (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+40ea8cb49f703b15572c476843dc1be7e9f072d9	The reasons for lengthening included trauma (n=7), hemihypertrophy (n=2), focal femoral deficiency (n=2), @DISEASE$ (n=1), hip septic arthritis sequelae (n=1), hereditary multiple exostosis (n=1), @PHENOTYPICFEATURE$ sequela (n=1), congenital tibial pseudoarthrosis (n=1), fibrous dysplasia (n=1), idiopathic limb length discrepancy (n=7), and cosmetic (n=1).	has_symptom
+bf4f3288cdd338220b565f0da2ec042120131d58	Management of glaucoma in patients with @DISEASE$ is often challenging and is aimed at controlling intraocular pressure and preventing progressive visual loss and @PHENOTYPICFEATURE$.	has_symptom
+58066a6f70aba9c36f0715c304ac5e77f92d0943	Mutations in Drosophila Swiss cheese (@DISEASE$) or its vertebrate orthologue neuropathy target esterase (NTE), respectively, cause progressive neuronal degeneration in Drosophila and mice and a complex syndrome in humans that includes mental retardation, spastic paraplegia and @PHENOTYPICFEATURE$.	has_symptom
+b04af5b888a7db0f5f814c15118eb4a37d297059	Mutations in Drosophila Swiss cheese (SWS) or its vertebrate orthologue neuropathy target esterase (NTE), respectively, cause progressive neuronal degeneration in Drosophila and mice and a complex syndrome in humans that includes @PHENOTYPICFEATURE$, spastic @DISEASE$ and blindness.	false
+433343eabc7a8a5164a6d897892f4ae32c88eefe	Mutations in Drosophila Swiss cheese (@DISEASE$) or its vertebrate orthologue neuropathy target esterase (NTE), respectively, cause progressive neuronal degeneration in Drosophila and mice and a complex syndrome in humans that includes @PHENOTYPICFEATURE$, spastic paraplegia and blindness.	false
+f122cde76b106d97f5327d4088b72075ff58a629	Mutations in Drosophila Swiss cheese (SWS) or its vertebrate orthologue neuropathy target esterase (NTE), respectively, cause progressive neuronal degeneration in Drosophila and mice and a complex syndrome in humans that includes @PHENOTYPICFEATURE$, spastic paraplegia and @DISEASE$.	false
+390389371fdb8872336197ba6e08a7d9ce20937a	Neuroendocrinology: New hormone treatment for @PHENOTYPICFEATURE$ caused by @DISEASE$.	has_symptom
+b004117840c5daca80366ca6a2e109a2be761d94	Although these Pomc-/- mice exhibited adrenal hypoplasia and @PHENOTYPICFEATURE$ similar to the syndrome of @DISEASE$ in children, their agouti coat color was only subtly altered.	has_symptom
+2722f6261ae6543e3c7142ee7df06a16faf0936b	Null mutations of the proopiomelanocortin gene (Pomc) cause @PHENOTYPICFEATURE$ in humans and rodents, but the contributions of central versus pituitary @DISEASE$ are not fully established.	has_symptom
+199ddf536ba9e5061f588f9940664151dcab7d73	We found that @DISEASE$ leads to glucose intolerance and insulin resistance in female mice before the onset of @PHENOTYPICFEATURE$ or hyperphagia.	has_symptom
+1724be5c2f5e70d36c2b8c089109c47219a58a0f	Restoration of pituitary POMC expression to create a de facto neuronal @DISEASE$ exacerbated the development of @PHENOTYPICFEATURE$, largely via glucocorticoid modulation of appetite, metabolism, and energy partitioning.	has_symptom
+63fcf8c633ba3821318e9aa92a0d42bbd6483760	These mutations in patients with early-onset @PHENOTYPICFEATURE$ represent a novel molecular mechanism of human @DISEASE$ whereby naturally occurring mutations in its N-terminal sequence impair the ability of POMC to enter the trafficking pathway in which serial propeptide processing normally occurs.	has_symptom
+74092d356ad94a6a5ec3934b0dc9424c2a0d5868	@DISEASE$ results in significant morbidity due to @PHENOTYPICFEATURE$, and it is also a potentially life threatening disease because of adrenal insufficiency.	has_symptom
+36110f4b31458cbd5d96b22d164f57ae343d5c6c	Vitamin D dependent rickets type I (VDDR-I), also referred to as vitamin D 1?-hydroxylase deficiency or @DISEASE$, is an autosomal recessive disorder characterized clinically by hypotonia, muscle weakness, @PHENOTYPICFEATURE$, hypocalcemic seizures in early infancy, and radiographic findings of rickets.	has_symptom
+4178dd24b373ac547fcca62d41a54e87f5d0ba75	General characteristics of the @DISEASE$, such as a @PHENOTYPICFEATURE$, a short neck, corneal opacity, an open mouth with macroglossia, enlargement of the skull and a long anteroposterior dimension, were observed.	has_symptom
+6566cd03df7ca3f06c243d6febf47321f99e7bc1	General characteristics of the @DISEASE$, such as a large head, a short neck, @PHENOTYPICFEATURE$, an open mouth with macroglossia, enlargement of the skull and a long anteroposterior dimension, were observed.	false
+976ed58d24052e9c75e8e02b8f46a4d6a9ebb2d5	General characteristics of the Maroteaux-Lamy syndrome, such as a @DISEASE$, a short neck, @PHENOTYPICFEATURE$, an open mouth with macroglossia, enlargement of the skull and a long anteroposterior dimension, were observed.	false
+ec33600dde119257953a29e27307ecba9125c9dd	@DISEASE$ are a heterogeneous group of genetic muscle diseases characterized by @PHENOTYPICFEATURE$ and atrophy.	has_symptom
+b4784f069a63f6720928b283336d27e97d9b857d	@DISEASE$ (MD) is a group of @PHENOTYPICFEATURE$ disease involving in inherited genetic conditions.	has_symptom
+d10253a56f0130915523b29fd4debc9189b75361	Novel ANO5 mutations causing hyper-CK-emia, limb girdle @PHENOTYPICFEATURE$ and Miyoshi type of @DISEASE$.	has_symptom
+00f6481e6e533bd0579fceb4cfb7ef7b87354893	Depending on the @DISEASE$, the @PHENOTYPICFEATURE$ varies in degree of severity.	has_symptom
+030cf89599ddcd32c404b48be33b01a20dbc8cb7	The @DISEASE$ are a heterogeneous group of over 40 disorders that are characterised by @PHENOTYPICFEATURE$ and wasting.	has_symptom
+9dba8cb027281561880b0e7315d0b0ac36a621a7	Currently, we have 14 different zebrafish mutants exhibiting various phenotypes of @DISEASE$, including @PHENOTYPICFEATURE$ and inactivity.	has_symptom
+e4bb89eddad19bfc6ceb1daf3cb57630f48c753c	Myotonic dystrophy type 1 (DM1), the second most common muscular dystrophy and most prevalent adult form of @DISEASE$, is characterized by @PHENOTYPICFEATURE$, wasting and myotonia.	has_symptom
+de7cd791ddd99414faac536da778e1f5c1e0d6d7	Myotonic dystrophy type 1 (DM1), the second most common @DISEASE$ and most prevalent adult form of muscular dystrophy, is characterized by @PHENOTYPICFEATURE$, wasting and myotonia.	has_symptom
+bf8a8fd5b5a306acec78e73fc200291619779c4b	@DISEASE$ is a progressive disease of @PHENOTYPICFEATURE$, muscle atrophy and cardiac dysfunction.	has_symptom
+e7870a4c04f3dc6d59b50bac5b2e9a7cfe5aac33	@DISEASE$ is a progressive disease of muscle weakness, @PHENOTYPICFEATURE$ and cardiac dysfunction.	false
+43463af4253cc6da9982dc5263411caad0db9871	Muscular dystrophy is a progressive disease of @DISEASE$, @PHENOTYPICFEATURE$ and cardiac dysfunction.	false
+8e39755b2efb383cd4c48b5c2199015b27ca8406	@DISEASE$ are a heterogeneous group of genetic diseases characterized by @PHENOTYPICFEATURE$, wasting and degeneration.	has_symptom
+338859cba3a6390dfc3bf591a8e0a5106ec6dd32	@DISEASE$ are a heterogeneous group of myopathies, characterized by @PHENOTYPICFEATURE$ and degeneration, without curative treatment.	has_symptom
+bc3da2f1b4bfb6c45181d6b469aac9bab7a6a7cd	Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, @DISEASE$) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and @PHENOTYPICFEATURE$.	has_symptom
+7a053c8c094c65f56b6133564d706377305452e1	Homozygous or compound heterozygous mutations in SLC19A3 cause two distinct clinical phenotypes, @DISEASE$ and Wernicke's-like @PHENOTYPICFEATURE$.	has_symptom
+4cd9afa814d3847d1c826f2c601b759dd6c0a511	@DISEASE$ typically causes (sub)acute episodes with @PHENOTYPICFEATURE$ and subsequent neurological deterioration.	has_symptom
+602f3b34ee40c97cdfe47e7388c106211da73896	@DISEASE$ (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	has_symptom
+3caea3222edaaabab8faf1f1a922ae6698281c3d	@DISEASE$ (WRS) is a neonatal progeroid disorder characterized by @PHENOTYPICFEATURE$, lipodystrophy, a distinctive face, and dental anomalies.	false
+e321082da8bfe84eb12bf6ba04210b8075bda280	Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by @PHENOTYPICFEATURE$, lipodystrophy, a distinctive face, and @DISEASE$.	false
+4fb5b7b436d5e126253cbe6c057280b0dd3a6bde	Wiedemann-Rautenstrauch syndrome (@DISEASE$) is a neonatal progeroid disorder characterized by @PHENOTYPICFEATURE$, lipodystrophy, a distinctive face, and dental anomalies.	false
+fd5c932f9a900660f6a81cfb3918d59b7bd19d95	As persons destined to develop familial @DISEASE$ (FAD) due to fully penetrant @PHENOTYPICFEATURE$ mutations are essentially certain to develop the disease, they provide the opportunity to identify oligomers during the presymptomatic stage of the disease.	has_symptom
+5a986e89e7f3d715fbf06497d91802411c8fdc93	SPG4, SPG3A and SPG31 are the three leading causes of @PHENOTYPICFEATURE$ (@DISEASE$) HSPs.	has_symptom
+73650a57fe1f4a216e3dcc42d1e299f826cfb858	@DISEASE$ (MS) is a developmental disorder characterized by typical facial dysmorphism, @PHENOTYPICFEATURE$, joint limitation and muscular pseudohypertrophy.	has_symptom
+a6d2f071cd7c545bb37399f80c41cb444c310fb3	Myhre syndrome (MS) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, @DISEASE$, joint limitation and muscular pseudohypertrophy.	false
+052d47f0d30a8335b79b883c75173aea5d5ff582	@DISEASE$ (MS) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, thickened skin, joint limitation and muscular pseudohypertrophy.	false
+19204246ee1dfe2459283b4504c08b9777286b47	[The @DISEASE$ syndrome (@PHENOTYPICFEATURE$, mesobrachyphalangy and tracheoesophageal fistula).	has_symptom
+f7a9f67b4416d12af8e85ed25fbbc0ada1c0e952	The association of duodenal atresia and @PHENOTYPICFEATURE$ also suggested a diagnosis of @DISEASE$.	has_symptom
+be9cac417f2d14d13e35018f86a174a1a4ebe854	@DISEASE$ is a combination of hand and foot anomalies, @PHENOTYPICFEATURE$, tracheo-esophageal fistula, esophageal/duodenal atresia, short palpebral fissures and developmental delay.	has_symptom
+a199c8ba92afb38a258adb4e85507479c3f47c2a	We report a case of @DISEASE$ with oesophageal atresia and @PHENOTYPICFEATURE$.	has_symptom
+666e1285bc822244cd5c2d3d6f940040a7cc9446	Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include @PHENOTYPICFEATURE$, short stature, and brachymesophalangy; but those with @DISEASE$-2 lack gastrointestinal atresias.	has_symptom
+c0d9d08f120dad8f5bbdfd0ba158395277647877	Manifestations common to both Feingold syndrome-1 and @DISEASE$-2 include @PHENOTYPICFEATURE$, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	has_symptom
+4b4d672fbaa10cef0c6cd36ceec7769e3817e5ed	Manifestations common to both @DISEASE$-1 and Feingold syndrome-2 include @PHENOTYPICFEATURE$, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	has_symptom
+9dae80a70e7b2e323ed20f869411f59161ade908	Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with @DISEASE$-2 lack gastrointestinal atresias.	false
+186691d705184178f507b7d38199bfa870af2a10	Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include @DISEASE$, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	false
+d265145bd2d3c0e4dee237fb31f5dd1c1c757af0	Manifestations common to both @DISEASE$-1 and Feingold syndrome-2 include microcephaly, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	false
+148eb7709f3e17449a6fcc5d8a2996d1a4fcc81e	Manifestations common to both Feingold syndrome-1 and @DISEASE$-2 include microcephaly, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	false
+9b6d5c1387561fef13172c9a6cd10d86d74ab3af	@DISEASE$ (FS) is a syndromic @PHENOTYPICFEATURE$ entity for which MYCN is the major disease-causing gene.	has_symptom
+328350bb9e170530e1e1b624ebb9ea20e6c51a46	Additionally, our patient does not have @PHENOTYPICFEATURE$ and, to our knowledge, is the first reported pediatric patient with @DISEASE$-2 without this feature.	has_symptom
+6f283cc9b1fa3bcb5e074cfddddeff1d12267f5e	Germline hemizygous deletions of MIR17HG are accounted for @PHENOTYPICFEATURE$, short stature, and digital abnormalities in a few cases of @DISEASE$.	has_symptom
+828690ff3868ea054aa2d56191da00497703bdc4	Germline hemizygous deletions of MIR17HG are accounted for microcephaly, @PHENOTYPICFEATURE$, and digital abnormalities in a few cases of @DISEASE$.	false
+081804573f2751ccc3cfeb85c487f74126311af0	Germline hemizygous deletions of MIR17HG are accounted for @DISEASE$, @PHENOTYPICFEATURE$, and digital abnormalities in a few cases of Feingold syndrome.	false
+449221290823947796f9e35a645ec2e0fb80ba0e	@DISEASE$: @PHENOTYPICFEATURE$, esophageal atresia, type III laryngeal cleft, malrotation, limb anomalies.	has_symptom
+da3c1c2734074a2466763600399a2f99691b56ae	Feingold syndrome: @DISEASE$, esophageal atresia, type III laryngeal cleft, malrotation, @PHENOTYPICFEATURE$.	false
+742add88a6953413e19dbd5121acb4efa2826bb0	@DISEASE$: microcephaly, esophageal atresia, type III laryngeal cleft, malrotation, @PHENOTYPICFEATURE$.	false
+38bea2a2a658c0c1a9c8b0a469738abc3c6b09de	Digital anomalies, @PHENOTYPICFEATURE$, and normal intelligence: new syndrome or @DISEASE$?	has_symptom
+185bb2cc5a09d8873ce9edbc52ab4300ec1dd6ce	@PHENOTYPICFEATURE$, microcephaly, and normal intelligence: new syndrome or @DISEASE$?	false
+07cd5261815c6972aabfae2b32d07d6da7ff96fd	@PHENOTYPICFEATURE$, @DISEASE$, and normal intelligence: new syndrome or Feingold syndrome?	false
+7c5694ace909150738ce93da9df4d9bd341d3c33	The present study describes a case of multiple mesenteric WD @DISEASE$, complicated by purulent inflammation, in a 59-year-old male who presented with @PHENOTYPICFEATURE$ and pyrexia of unknown origin.	has_symptom
+3ed2ae777e55e2cecfd3216c147066675b5dbf06	@DISEASE$ (SCA10) is characterized by @PHENOTYPICFEATURE$, dysarthria, nystagmus, epilepsy, reduced cognitive ability and depression, which lead to functional loss and behavioral changes.	has_symptom
+128529b6ce6c777b38e7f8987af0cef682683c39	Physical features of animals with @DISEASE$ may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral @PHENOTYPICFEATURE$.	has_symptom
+655231a5e182c166ba1cab085b48fbddf8d1b853	OBJECTIVE: To report a syndrome that is uncommon in childhood and call pediatrician?attention to the tubular diseases - just like @DISEASE$ - in differential diagnosis of @PHENOTYPICFEATURE$ and other diseases that can be usually found in children.METHODS: Two patients are presented.	has_symptom
+6e7ceda3c80902d74bafa2d87dcf0e318dc8c620	An 11-month-old child diagnosed with @DISEASE$ and @PHENOTYPICFEATURE$ was treated concurrently for elevated metal burden while he was undergoing standard medical interventions.	has_symptom
+582483547d604761491a92a6ae83ddb25945b70b	Hyperprostaglandin E syndrome/antenatal @DISEASE$ is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, vomiting, diarrhea, and @PHENOTYPICFEATURE$.	has_symptom
+f9df03baaa193ef5731f0ac95b1ba98a42125b21	Hyperprostaglandin E syndrome/antenatal Bartter syndrome is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, @PHENOTYPICFEATURE$, diarrhea, and @DISEASE$.	false
+6f01ef3e3c7afeae2ff30b772a768cf065a72ca0	Hyperprostaglandin E syndrome/antenatal @DISEASE$ is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, @PHENOTYPICFEATURE$, diarrhea, and failure to thrive.	false
+1e03da8e90bdf55b84b918d2df00c75ad299e274	Hyperprostaglandin E syndrome/antenatal Bartter syndrome is accompanied by a pathologically elevated synthesis of prostaglandin E(2), thought to be responsible for aggravation of clinical symptoms such as salt and water loss, @PHENOTYPICFEATURE$, @DISEASE$, and failure to thrive.	false
+dac17fc749f49c08af66fc2100dca5f1cdae49ad	The most common phenotypic features in this sample of symptomatic patients were persistent or recurrent lower respiratory?tract infections, @PHENOTYPICFEATURE$ and Pseudo-@DISEASE$.	has_symptom
+8bbf7f06eab4ad8a762bffd1f2cd16645c615714	@DISEASE$ is a severe inherited tubulopathy characterized by postnatal salt wasting, severe polyuria, dehydration, @PHENOTYPICFEATURE$ and secondary hyperaldosteronism.	has_symptom
+d713a4a4ce34fa03d15c4a1ab489347db664852d	Convulsions were noted in @DISEASE$ patients with @PHENOTYPICFEATURE$, especially in those with height below 3%.	has_symptom
+4e20f7d3ea286803584b452c8985d6c9f0c6918f	The patient came from an inbred Mennonite family, and though the mutation identified her as an AME patient, she had a normal birth weight and did not demonstrate the typical features of AME, such as @DISEASE$, low birth weight, @PHENOTYPICFEATURE$, poor growth, and in many cases nephrocalcinosis.	has_symptom
+e9b7145057cbb2eedeb7420ac6c4323179c50b15	Immunizing antigens against only 10 bacterial diseases-@DISEASE$, diphtheria, paratyphoid, pertussis, plague, scarlet @PHENOTYPICFEATURE$, staphylococcal disease, tetanus, tuberculosis and typhoid-have been licensed for sale in Canada and the United States.	has_symptom
+dfde3b2f1001082613cf8fa095d55b28191774f4	@DISEASE$ and persistent @PHENOTYPICFEATURE$: active disease or damage?	has_symptom
+c7157a75e9f2ea76e26083f2fb189fe9e6c75c05	An aggressive and lethal course of @DISEASE$ with alveolar hemorrhage, intestinal perforation, @PHENOTYPICFEATURE$ and peripheral neuropathy.	has_symptom
+b8d7d526d3bac39175ff13bb0b31487cf7f3fd94	An aggressive and lethal course of Churg-Strauss syndrome with alveolar hemorrhage, intestinal perforation, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2c60e7453aa513465a5a04c27bf5cc120b9e53b8	An aggressive and lethal course of @DISEASE$ with alveolar hemorrhage, intestinal perforation, cardiac failure and @PHENOTYPICFEATURE$.	false
+2e6ebb0ac358f48de1098457c3b411c5943620c7	[An autopsy case of allergic granulomatous angitis (@DISEASE$) with @PHENOTYPICFEATURE$ and HSV infection following perforation of the small intestine].	has_symptom
+6cf3cd22c4f3f167aab69c72f5c19f309b5f126c	In this case report, in which the diagnosis of @DISEASE$ was made based on histologic criteria and clinical features, @PHENOTYPICFEATURE$ with globally depressed left ventricular function was present.	has_symptom
+1c7ada55d24b431b5b6ac07ac767015e94d8c9f8	Other diseases showing airway hyperresponsiveness, such as allergic bronchopulmonary aspergillosis, @DISEASE$, and left @PHENOTYPICFEATURE$ presenting cardiac asthma, may sometimes show similar clinical pictures to COPD.	has_symptom
+51c7af61ad2fcf98703c506deade1f3daa9b2a9f	Other diseases showing airway hyperresponsiveness, such as allergic bronchopulmonary aspergillosis, Churg-Strauss syndrome, and left @DISEASE$ presenting cardiac @PHENOTYPICFEATURE$, may sometimes show similar clinical pictures to COPD.	false
+eb5739198364b430c1b1bda1060db085670e8d33	Other diseases showing airway hyperresponsiveness, such as allergic bronchopulmonary aspergillosis, @DISEASE$, and left heart failure presenting cardiac @PHENOTYPICFEATURE$, may sometimes show similar clinical pictures to COPD.	false
+507185889f8f0bbb5dddf92fa90c915fccd1d4b7	Here, we present a case of a patient with @DISEASE$ and severe @PHENOTYPICFEATURE$ scheduled for cholecystectomy due to acalculous cholecystitis.	has_symptom
+6299ec76d2a280c331591b5593e1802d7c3eaae6	A patient with @PHENOTYPICFEATURE$ caused by @DISEASE$ was successfully treated with transplantation.	has_symptom
+2fc983a2e68fb4db7e1a2e36b1ddc2ce3e926acd	We report a case of @DISEASE$ (CSS) complicated by severe @PHENOTYPICFEATURE$ and peripheral neuropathy.	has_symptom
+0a56b25802cdea037e01b98203564b646498368c	We report a case of Churg-Strauss syndrome (CSS) complicated by severe @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d92624366bf25b4627c45b8b52d39b4288b23f3a	We report a case of @DISEASE$ (CSS) complicated by severe cardiac failure and @PHENOTYPICFEATURE$.	false
+45ea37d546ba64bf1452f214e7240b42506a7409	We report a case of Churg-Strauss syndrome (@DISEASE$) complicated by severe cardiac failure and @PHENOTYPICFEATURE$.	false
+a3ddc79afe074f3b8a75dace3b62ba0d4938680d	A severe form of @DISEASE$ complicated with acute @PHENOTYPICFEATURE$ and rapidly progressive peripheral neuropathy--a possible effect of intravenous immunoglobulin therapy.	has_symptom
+aaa85e520666a5edf17a4a3d3fe274c22c3c8101	We report the case of a 63-year-old female diagnosed with @DISEASE$ with both pericardial tamponade and myocardial involvement with @PHENOTYPICFEATURE$.	has_symptom
+9885f27571b62c8daeadfeb46cf3dcd41c496ccd	@DISEASE$ and @PHENOTYPICFEATURE$ (MH) are both associated with mutations in the RYR1 gene.	has_symptom
+72c26ac1fce7e143e3dcccece997ff70cb72edac	@DISEASE$ (CCD) is an autosomal-dominant congenital myopathy, with muscle weakness and @PHENOTYPICFEATURE$ (MH) susceptibility.	has_symptom
+51dd40789a46b7794bf3709c2b179e00ec453a11	The loop is conserved in RyR and includes mutations that are associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+10e4501be9e327c2ef6cec3d27ae2965f77771ae	@DISEASE$ (CCD) of muscle is an inherited myopathy which is closely associated with @PHENOTYPICFEATURE$ (MH) in humans.	has_symptom
+85ff4a18d5c6ba74d6ded4f5b3860bca93de3da0	Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+4ee18908aeb135f81f96bccc35943e72f10cc647	We present a Norwegian family with @DISEASE$ and @PHENOTYPICFEATURE$ susceptibility.	has_symptom
+e493fb756ed7bb8a93852f04f1c3429358d023a7	release is a common defect of RyR1 mutations associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+93bb3ec01a875a7ade1a68fb0bc951a09fa3e296	Functional properties of RYR1 mutations identified in Swedish patients with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+f346016cc038a1c12ccd3f904f10cbfaff2d56bc	@PHENOTYPICFEATURE$ and @DISEASE$: disorders of Ca2+ release channels.	has_symptom
+7753c44b742265621ccb2cf1bedb30318a8aed4f	In skeletal muscle, @PHENOTYPICFEATURE$ and @DISEASE$ result from point mutations in RYR1, the skeletal isoform of RyRs.	has_symptom
+4995e7430a841ddf630f6056a88233ba34b4582e	Mutations of DP may cause striate palmoplantar keratoderma, arrhythmogenic right ventricular dysplasia, skin fragility/@PHENOTYPICFEATURE$ syndrome, Naxos-like disease, and @DISEASE$.	has_symptom
+edbae9d3c7d28d17d7635fb864ffb97d59a69623	Aarskog syndrome (@DISEASE$) should be kept in mind in children with @PHENOTYPICFEATURE$ and interdigital webbing.	has_symptom
+d624ae30a57402ce604f036b860828a3dc02f298	Aarskog-Scott syndrome, also termed as @DISEASE$, is an X-linked disorder consisting of @PHENOTYPICFEATURE$, craniofacial dysmorphism, shawl scrotum, cryptorchidism, and interdigital webbing.	has_symptom
+f96ea65bb0eae0bbab80bfe3dacebd407d8324ec	@DISEASE$, also termed as faciogenital dysplasia, is an X-linked disorder consisting of @PHENOTYPICFEATURE$, craniofacial dysmorphism, shawl scrotum, cryptorchidism, and interdigital webbing.	has_symptom
+23ae87515e45a8f9cb3d54a07127589a75f5a094	@DISEASE$ (AAS) is an X-linked disorder characterised by @PHENOTYPICFEATURE$ and multiple facial, limb and genital abnormalities.	has_symptom
+bc23e9e1ff41430bac00f0d98aeb34604a3a96e9	@DISEASE$ (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and @PHENOTYPICFEATURE$.	false
+e90be9768781154c9d85a4ae5eba1f957aa49008	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple @DISEASE$, limb and @PHENOTYPICFEATURE$.	false
+894358427d8960d6e5c726c46177ba3c3754d926	Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by @DISEASE$ and multiple facial, limb and @PHENOTYPICFEATURE$.	false
+5733020a32c9ce6009d7f6836695fec186be7c2b	Aarskog-Scott Syndrome (@DISEASE$) is an X-linked disorder characterised by short stature and multiple facial, limb and @PHENOTYPICFEATURE$.	false
+0a104a16bc662f610d26ca37a963da2d891a6bc6	Aarskog-Scott syndrome (AAS), also known as @DISEASE$ (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by @PHENOTYPICFEATURE$ and facial, skeletal, and urogenital abnormalities.	has_symptom
+2c203cfc3dc5f123d9733564a4a2dd05996abed5	@DISEASE$ (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by @PHENOTYPICFEATURE$ and facial, skeletal, and urogenital abnormalities.	has_symptom
+145a18f74f4ff0622ad04264dc4b755d149b3d01	Aarskog syndrome (@DISEASE$) is an X-linked recessive genetic growth disorder characterized by @PHENOTYPICFEATURE$, dysmorphic facies, shawl scrotum, and digital anomalies.	has_symptom
+fcd5d3b0c5c7fe3c611bb864ac097eb94bdd88e7	Aarskog @DISEASE$ (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and @PHENOTYPICFEATURE$.	false
+026d7a8bfd9515500f5210c98d18ec4f8d0cc49b	Aarskog syndrome (@DISEASE$) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and @PHENOTYPICFEATURE$.	false
+829a3d2ad0e60e2a197213a2e4a46edb55255aa2	Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic @DISEASE$ characterized by short stature, dysmorphic facies, shawl scrotum, and @PHENOTYPICFEATURE$.	false
+c1989ec0201b6c3ed4c7e09ca28c228e47e3e49c	Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by @DISEASE$, dysmorphic facies, shawl scrotum, and @PHENOTYPICFEATURE$.	false
+ef41ff31af882437bd94fd7fb8fbddd09fa73a8e	Aarskog syndrome is an X-linked disorder characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+e0007bc1d66a6a748ce9636587a35a49c7ba0b8b	@DISEASE$ of unusual facies, joint hypermobility, genital anomaly and @PHENOTYPICFEATURE$.	has_symptom
+ff3663ed5631ff1e02ea298656aeb06fd19df548	Aarskog-Scott syndrome of @PHENOTYPICFEATURE$, joint hypermobility, genital anomaly and @DISEASE$.	false
+22b190c69fb37f19c78e0a052b512d17bc07cedc	@DISEASE$ of unusual facies, joint hypermobility, @PHENOTYPICFEATURE$ and short stature.	false
+0dd2c162007b74ac1fb5cffe4cdf9a36cb775d50	Aarskog-Scott syndrome of unusual facies, joint hypermobility, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ca649fe2a5290f1425de4fbcee85307b082cad91	@DISEASE$ of @PHENOTYPICFEATURE$, joint hypermobility, genital anomaly and short stature.	false
+221ead2184f24aa90eb339d9889949a413d6ecf5	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphisms, brachydactyly and urogenital abnormalities.	has_symptom
+e6b3752a1b9ab8bef1646a62bbadb1d0d8e33e27	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, @PHENOTYPICFEATURE$ and urogenital abnormalities.	false
+40df2664475ae678ce5b9af2f446aaa20867659d	Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by @DISEASE$, craniofacial dysmorphisms, @PHENOTYPICFEATURE$ and urogenital abnormalities.	false
+57b40811b6d656355024073dd6550e71bd962042	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and @PHENOTYPICFEATURE$.	false
+f4b224f0daff7e3c1a34a63377ec6129daaac656	Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by @DISEASE$, craniofacial dysmorphisms, brachydactyly and @PHENOTYPICFEATURE$.	false
+8df6c1c9c0dc804b2738f37a7d4b54b9d5ac72da	The X-linked condition "@DISEASE$ (AAS)" causes a characteristic combination of @PHENOTYPICFEATURE$, facial, genital and skeletal anomalies.	has_symptom
+34e74f2286195e247a29fdf352fb3e041e1a8a08	The X-linked condition "@DISEASE$ (AAS)" causes a characteristic combination of short stature, facial, genital and @PHENOTYPICFEATURE$.	false
+c81b4060e379790b7652ecf0fbb95b02af205d4e	The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of @DISEASE$, facial, genital and @PHENOTYPICFEATURE$.	false
+5bb41c8616491a9b9d5583dab3094ebe15b05cac	The X-linked condition "Aarskog-Scott syndrome (@DISEASE$)" causes a characteristic combination of short stature, facial, genital and @PHENOTYPICFEATURE$.	false
+2059b127d7b19084874771874befe27099c30d71	The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of short stature, @DISEASE$, genital and @PHENOTYPICFEATURE$.	false
+c976c8651a6711906c6bd323c0c8efea7b6a7520	Faciogenital dysplasia or @DISEASE$ (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and @PHENOTYPICFEATURE$.	has_symptom
+cca9784e83e3acc5b37ac9342730da62634b3ef4	@DISEASE$ or Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and @PHENOTYPICFEATURE$.	has_symptom
+a87ca42d4e11b1573632ecc7fc405e1fdc6b06b3	The mitochondrial 13513G > A mutation is most frequent in @DISEASE$ combined with reduced complex I activity, @PHENOTYPICFEATURE$ and/or Wolff-Parkinson-White.	has_symptom
+f6b88947a442fed9e2356b6f798e4c6051bb3474	Characteristic symptoms include brainstem involvement, @PHENOTYPICFEATURE$ and @DISEASE$ on MRI, either or not in combination with internal organ involvement and lactic acidemia.	has_symptom
+1989eafdade884258e51cc7871e638a0355e61a5	The largest subunit, SDHA, is mutated in patients with @DISEASE$ and late-onset @PHENOTYPICFEATURE$, but has not as yet been identified as a factor in hereditary cancer.	has_symptom
+20ce34c3f9c310cdd44c41f18902a26f286f6a51	They suggest that the T14487C mtDNA mutation should be analyzed in @DISEASE$, presenting with @PHENOTYPICFEATURE$, ataxia, dystonia, and epilepsy, regardless of age.	has_symptom
+1ff8347fffc88b21ff3603b7cc41b3957d71b6c2	They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with @DISEASE$, @PHENOTYPICFEATURE$, dystonia, and epilepsy, regardless of age.	false
+a2d7164f149c8136a8dde48c6814db912dbc9905	They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$, and epilepsy, regardless of age.	false
+f25b8def2bb991aaeba30b84ec47656f7f81104b	They suggest that the T14487C mtDNA mutation should be analyzed in @DISEASE$, presenting with optic atrophy, @PHENOTYPICFEATURE$, dystonia, and epilepsy, regardless of age.	false
+52e241c9defde1d19859a6bb53e36852b011852c	The combined mutation (T145I + R199W) in the subunit is reported to cause @PHENOTYPICFEATURE$ and @DISEASE$ accompanied by severe Complex-I deficiency.	has_symptom
+94b144e161f9afd9e53f8282cd9a5555cdf7faa7	Mutations in SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+dcfcc3625cee8d0f569c15dff416bd75e5b021ab	Mutations in the SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+af5ebaca127d7e76864478845a99fbc0bc6a8a2b	In a 2-year-old boy with @DISEASE$, spasticity, dysarthria, and @PHENOTYPICFEATURE$ gradually developed.	has_symptom
+23f99fa173fdebeb8a6f74ec79c4029ef5b83f71	Combined oxidative phosphorylation deficiency type 7 (COXPD7) is a rare disorder of mitochondrial metabolism that results in @PHENOTYPICFEATURE$ and @DISEASE$-like disease.	has_symptom
+340e6fac645c42f6bc30df8c100e0c93299135c4	Mitochondrial EFTs defects in juvenile-onset @DISEASE$, ataxia, neuropathy, and @PHENOTYPICFEATURE$.	has_symptom
+09811c92ede5044c8963e7db5703e873c0f45e6d	Mitochondrial EFTs defects in juvenile-onset Leigh disease, @PHENOTYPICFEATURE$, neuropathy, and @DISEASE$.	false
+74fb207c530373b4d3b41647bab928a863c6d1e0	Mitochondrial EFTs defects in juvenile-onset @DISEASE$, @PHENOTYPICFEATURE$, neuropathy, and optic atrophy.	false
+de58fe9f72cab0bba889f34cd53cbffd5def3a03	Mitochondrial EFTs defects in juvenile-onset Leigh disease, @PHENOTYPICFEATURE$, @DISEASE$, and optic atrophy.	false
+8f23075110e21b0850b1aac8d22698640d950162	Neonatal-onset multisystem inflammatory disease (@DISEASE$)/chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is the most severe phenotype, with @PHENOTYPICFEATURE$, rash, articular manifestations, and neurologic and neurosensory involvement.	has_symptom
+f94549d2af5cd048f6977ffa20c424f3c93d88de	@DISEASE$ (NOMID)/chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is the most severe phenotype, with @PHENOTYPICFEATURE$, rash, articular manifestations, and neurologic and neurosensory involvement.	has_symptom
+faf4a5851832a321ec5eb1de358269062adc9d82	Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, articular syndrome (@DISEASE$) is the most severe phenotype, with @PHENOTYPICFEATURE$, rash, articular manifestations, and neurologic and neurosensory involvement.	has_symptom
+71126edf43a1c14151b3441b6980b4893018b36e	Neonatal-onset multisystem inflammatory disease (NOMID)/@DISEASE$ (CINCA syndrome) is the most severe phenotype, with @PHENOTYPICFEATURE$, rash, articular manifestations, and neurologic and neurosensory involvement.	has_symptom
+788bb188d2eec7e280023cfc29e79cc193d1afe6	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation.	has_symptom
+2116d4489b4a84b4f1ae2ce692a9a23bc0eb6947	@DISEASE$ is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and @PHENOTYPICFEATURE$.	false
+9223ce8f6120d6faed79c28c36f6546a07735beb	Neonatal-onset multisystem inflammatory disease is characterized by @DISEASE$, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and @PHENOTYPICFEATURE$.	false
+c14143b764e0812aa1a5da82028326f08580934d	Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming @DISEASE$, hearing loss, and @PHENOTYPICFEATURE$.	false
+74ea0dea8a96dfda33056a9d175c20888ed1e76f	Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d2cb0d4cdc4786a4f62e00fd8f7c2e75448a02eb	Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, @DISEASE$, deforming arthropathy, hearing loss, and @PHENOTYPICFEATURE$.	false
+1e6bab8686dd095d792f32d42c2742d4d5f3db95	In FCAS, these are cold-induced urticaria and @PHENOTYPICFEATURE$, in MWS systemic amyloidosis and hearing loss and in @DISEASE$/CINCA central nervous system inflammation and bone deformities.	has_symptom
+56619274b7de845bb325dd2fcc73b301ea5828ef	Neonatal onset multisystem inflammatory disease (@DISEASE$), an autoinflammatory disease, is characterized by @PHENOTYPICFEATURE$, chronic urticarial rash, CNS manifestations, and arthropathy.	has_symptom
+62e3646ba53e8cf2c5aa86c3138bd39c84aff6bc	@DISEASE$ (NOMID), an autoinflammatory disease, is characterized by @PHENOTYPICFEATURE$, chronic urticarial rash, CNS manifestations, and arthropathy.	has_symptom
+f5f91eed7292b874b0fdb8f8ee7ec24971ce733d	These syndromes, familial cold autoinflammatory syndrome, Muckle-Wells syndrome and @DISEASE$, are characterized by urticaria-like rash, @PHENOTYPICFEATURE$, central nervous system inflammation, an arthropathy and a risk of the development of amyloidosis in a respectively escalating degree of severity between the various syndromes.	has_symptom
+28ebf1b7fd9c1645a3e19c1734dc8f5d835d0178	@DISEASE$ (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming arthropathy.	has_symptom
+95aa0c86ff44126c2d1fce1b130a13bfe309ee3c	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @DISEASE$, chronic meningitis, uveitis, @PHENOTYPICFEATURE$, urticarial skin rash, and a characteristic deforming arthropathy.	false
+6f16104a417dd4c0d4892084f5e5409bfef13842	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, @PHENOTYPICFEATURE$, urticarial @DISEASE$, and a characteristic deforming arthropathy.	false
+7c701d2f5b305e5e9e3f21b3a45763d35dc0a810	@DISEASE$ (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, @PHENOTYPICFEATURE$, urticarial skin rash, and a characteristic deforming arthropathy.	false
+f556337abb5198ea5d3e6621c49143ba7be110d3	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, @DISEASE$, @PHENOTYPICFEATURE$, urticarial skin rash, and a characteristic deforming arthropathy.	false
+bb1a812306d5d7e3aaa7563943cd44ea127a3b0c	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, @DISEASE$, uveitis, @PHENOTYPICFEATURE$, urticarial skin rash, and a characteristic deforming arthropathy.	false
+c65fe79022024bdfa5c0145d2fec8dc67880414b	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, @PHENOTYPICFEATURE$, urticarial skin rash, and a characteristic deforming @DISEASE$.	false
+b43d2ea6936ec2c0d48ad8ccc82824e69d6badf3	After exclusion of closely mimicking conditions like congenital infections, neonatal onset multisystem inflammatory disease (@DISEASE$), neonatal; lupus erythematosus (NLE) diagnosis of SOJIA may be entertained even in a neonate where arthritis, @PHENOTYPICFEATURE$ and rash are the presenting features.	has_symptom
+ea9498f53f7d49941527ebec0b4166bf576e2481	After exclusion of closely mimicking conditions like congenital infections, @DISEASE$ (NOMID), neonatal; lupus erythematosus (NLE) diagnosis of SOJIA may be entertained even in a neonate where arthritis, @PHENOTYPICFEATURE$ and rash are the presenting features.	has_symptom
+1de1ed0745f700cc9474739d4bb6b1c2200b95b9	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	has_symptom
+b2f4a0611fe4dc72edc265533822a6dec6f3a335	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and mental deterioration.	false
+b0f5d31b34fb5de51dc07f6ebbbf3b2c95107090	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an @DISEASE$ of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and mental deterioration.	false
+4cf33ad54a5ead242c8624e76fefedb903765019	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and @DISEASE$.	false
+e3b8743fc4b577a4425c34eae5e6524a75851baa	Of people with an ?2?2 genotype 15% develops @DISEASE$, which is associated with secondary risk factors, such as @PHENOTYPICFEATURE$ and insulin resistance, that inhibit remnant clearance by degradation of the heparan sulfate proteoglycan receptor.	has_symptom
+5e2d2514d2516574400686855c7e716410e100a6	Possible implications for dietary control of @DISEASE$ and @PHENOTYPICFEATURE$ are discussed.	has_symptom
+7ebc04640fd4ea87d5316e4cc27799d2e0bf2a43	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one @DISEASE$ (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and @PHENOTYPICFEATURE$.	has_symptom
+93b629bcc5c530e05e4704cdc6acf2e9e593cd9a	Genetic analysis of 17 presumptively diagnosed patients revealed one case of @DISEASE$ (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+c077d8196f88025eb90c62740425f2a93a486a35	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and @DISEASE$.	false
+34568788911bcf3cb659c781ebf5730e89498d3b	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one @DISEASE$ (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+62db1aea62f69083abd7f4c3bf0bc5039b8b0f1d	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of @DISEASE$ (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+a3997874d44e2bad6c51625fc7cc8f9ae3a300aa	Developmental @PHENOTYPICFEATURE$ in chondroectodermal dysplasia (@DISEASE$).	has_symptom
+879503744ab3af76472e812975e58c6874d0dec6	Developmental @PHENOTYPICFEATURE$ in @DISEASE$ (Ellis-van Creveld syndrome).	has_symptom
+0cbe7bd9a2845cb8ba2db148f02ef9d0b8353f86	@DISEASE$ is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and @PHENOTYPICFEATURE$, nail dysplasia and in 50-60% cases of congenital cardiac defects.	has_symptom
+6e49e4e221d7364da6561a41ca76358c9fe0a9eb	Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and @DISEASE$, @PHENOTYPICFEATURE$ and in 50-60% cases of congenital cardiac defects.	false
+37e9d7805047e5443834ace379914042abf8cba7	@DISEASE$ is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, @PHENOTYPICFEATURE$ and in 50-60% cases of congenital cardiac defects.	false
+af520a21518095802643a91f22691f70fbd58cea	Oral manifestations of @DISEASE$: report of two siblings with unusual @PHENOTYPICFEATURE$.	has_symptom
+6836e5e99d206ae6346fce5a4a65888917985828	The Ellis-van Creveld (EVC) syndrome is a @DISEASE$ and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and @PHENOTYPICFEATURE$.	has_symptom
+4e1ca47115001a264043b737d112235c581e291a	The Ellis-van Creveld (EVC) syndrome is a @DISEASE$ and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+844582c7b2e298acc4034879c9963bf7bb66b447	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+5ff78677ebdeed5a97c043ca5b363aacc83f0216	The Ellis-van Creveld (EVC) @DISEASE$ is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+87239ba9e7bab803f5896be7a6fb1e5fea185569	The Ellis-van Creveld (EVC) syndrome is a @DISEASE$ and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+76665c45ab82965ebdb9491e86c99997018cfc08	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and dental abnormalities.	false
+3fe82e40c8704f03821e20507060c589793b438d	The Ellis-van Creveld (EVC) @DISEASE$ is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+8ce53f4f6aa06381b149211e8153cc50efc7d7c3	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and dental abnormalities.	false
+87b44af7dc230010bd7c39761d26c8f94ff79b56	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, @DISEASE$, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+f0be5680951b9e872930e7e97cc84f887a89ad8b	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and @DISEASE$.	false
+0f00be55c6786eafea886bece8fd2c982fa4f2db	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and @DISEASE$.	false
+ba724920e54575b5013c5737798b5f3098e4f577	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+f8bf86d671ca43f8b1665cef7e6866d02a476f16	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+b49782ea66bda94ff87ef0d53fef2ada7d6b24bc	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with short limbs accompanied by postaxial polydactyly, @PHENOTYPICFEATURE$, and dental anomalies.	false
+6f2c5eba05f27d6f31848c9c59e6376c94d98974	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, @PHENOTYPICFEATURE$, and dental anomalies.	false
+ac41cece9383b7137edde4f34d6750bfe3019938	Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3b9d36fc0f82c6b9dc34f1d2af84d8d6185b41f0	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies.	false
+86a84dc47838aa24ef7fe4fe88dcb042d8ce78ce	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies.	false
+0be5e973858d22c5b984ed8d3f0d00cd2deb0003	Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and @DISEASE$.	false
+431a3e11e645c8ef0aef3c0983d5a52a42514e8b	Oral and @PHENOTYPICFEATURE$ in Ellis van Creveld syndrome (@DISEASE$): report of a case.	has_symptom
+0e592822eb86ec63487ee02f1a82f80fa38b791c	Oral and @PHENOTYPICFEATURE$ in @DISEASE$ (chondroectodermal dysplasia): report of a case.	has_symptom
+d11ae2f15d1c76d6806ef2004407f55ab140bade	@DISEASE$ (EvC) is a rare autosomal recessive disorder characterized by disproportionate chondrodysplasia, postaxial polydactyly, nail dystrophy, @PHENOTYPICFEATURE$ and in a proportion of patients, congenital cardiac malformations.	has_symptom
+76238d4b0022c66d2aefa79ab19ab59dbf318e9f	The clinical features of individuals with @DISEASE$ include various @PHENOTYPICFEATURE$, and we show here that absence of the cilial protein Evc in mice causes various hypo- and hyperplasia defects during molar development.	has_symptom
+b9f43dfb239f7d1b969188827d95d1196b965d53	Analysis of our data indicates that both spatially and temporally disrupted activities of the Shh pathway are the primary cause for the variable @PHENOTYPICFEATURE$ seen in patients with @DISEASE$ or Weyers acrodental dysostosis.	has_symptom
+097fb14c6d26e561792219a75eec731100fd29ce	@PHENOTYPICFEATURE$ is characteristic of @DISEASE$, or mucopolysaccharidosis type IH (MPS IH).	has_symptom
+9dc4fca21cd3011aad38341c1228e1820ea088e8	@PHENOTYPICFEATURE$ is characteristic of Hurler syndrome, or @DISEASE$ (MPS IH).	has_symptom
+6d5d0804c95d2478d69a173efb2c490acd964f2f	The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with @DISEASE$ who were treated at our institution with GH for @PHENOTYPICFEATURE$ or GH deficiency between 2005 and 2008.	has_symptom
+71bb283922da6d2c8035d8cb93a29670e9f83067	The @DISEASE$-hearing impairment syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, @PHENOTYPICFEATURE$, and occasionally synostoses.	has_symptom
+b1a84b50a4e4d83c3b9aa29ad19e5f0b4fe9e73d	The proximal symphalangism-@PHENOTYPICFEATURE$ @DISEASE$, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, conductive hearing loss, and occasionally synostoses.	false
+d0c8051c5b76bca806a38e23ad47a82feeed14c8	The proximal symphalangism-@PHENOTYPICFEATURE$ syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, @DISEASE$, and occasionally synostoses.	false
+3c18db043ba0214e6b254646cf34a0cc4d6d50ae	The @DISEASE$-@PHENOTYPICFEATURE$ syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, conductive hearing loss, and occasionally synostoses.	false
+d86413d73ff5fab2d63092f42105200fae1d864c	The haemodynamic and catecholamine responses to supine exercise, and the effect on standing blood pressure (BP), were studied in three groups with peripheral @PHENOTYPICFEATURE$; insulin-dependent diabetes mellitus (IDDM), @DISEASE$ (FAP) and pure autonomic failure (PAF).	has_symptom
+ff397002f407a220f3382b8e5a07c9fd6e47f8ab	Correlations between microforms of the @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+3dbeb3577cceb4e3193dbbcc306ea35ea6870aaf	Summary Van der Woude syndrome (@DISEASE$) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, @PHENOTYPICFEATURE$ and other malformations.	has_symptom
+62a019a2325c8d0058a5ad5966879ba096f62013	Summary @DISEASE$ (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, @PHENOTYPICFEATURE$ and other malformations.	has_symptom
+388ca3568fa3ca391c21c16d93c880325cee9242	The first occurred in the setting of @DISEASE$ and was associated with a @PHENOTYPICFEATURE$.	has_symptom
+be17327f49e0a0a031f84ff6f5a092dfa8d7eb7f	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder that is characterised by cleft lip, @PHENOTYPICFEATURE$, lower lip pits, and hypodontia.	has_symptom
+9eddf34bfef170368e40ace0c6dd7da6baaf2212	@DISEASE$ (VWS) is an autosomal dominant disorder that is characterised by cleft lip, @PHENOTYPICFEATURE$, lower lip pits, and hypodontia.	has_symptom
+51d8a00aafd47edc1f34438b7b73d4471d98ded2	@DISEASE$ (VWS) is an autosomal dominant disorder that is characterised by cleft lip, cleft palate, lower lip pits, and @PHENOTYPICFEATURE$.	false
+f65492b23b97ed4e7c5219ba7de1c80e1abca3f7	Van der Woude syndrome (VWS) is an autosomal dominant disorder that is characterised by cleft lip, @DISEASE$, lower lip pits, and @PHENOTYPICFEATURE$.	false
+2c443f6695b03f9c318dc7201763c2c7772c9e33	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder that is characterised by cleft lip, cleft palate, lower lip pits, and @PHENOTYPICFEATURE$.	false
+80c3cb2e917ff084170587ac7cec81050543f638	Van der Woude syndrome (VWS) is an autosomal dominant disorder that is characterised by @DISEASE$, cleft palate, lower lip pits, and @PHENOTYPICFEATURE$.	false
+6cd92a95f4779a4eb11474aff0d03ba946c2fd40	Submucous @PHENOTYPICFEATURE$ in @DISEASE$ may go undiagnosed if the lower lip pits are not detected.	has_symptom
+468f1700e62684eac1bde9ff628bcf5f26580aa9	@DISEASE$ (VWS) is a congenital malformation characterized by lower lip pits with or without cleft lip or @PHENOTYPICFEATURE$.	has_symptom
+c1294d2f9706b7dd96bc74caa2948b4a21de7dab	van der Woude syndrome (@DISEASE$) is a congenital malformation characterized by lower lip pits with or without cleft lip or @PHENOTYPICFEATURE$.	has_symptom
+73855a58d3a915fbe236519bab760b6556434e5f	@DISEASE$ (VWS) is an autosomal dominant inherited disease characterized by lower lip pits, cleft lip and/or @PHENOTYPICFEATURE$.	has_symptom
+f19fb3c31123603e217106ece3f83e998598f9b5	Van der Woude syndrome (@DISEASE$) is an autosomal dominant inherited disease characterized by lower lip pits, cleft lip and/or @PHENOTYPICFEATURE$.	has_symptom
+8898c09ef3afbda02b5e6cd3ef4136fec5d3896f	@DISEASE$ (VWS) is an autosomal dominant disorder comprising cleft lip and/or @PHENOTYPICFEATURE$ and lip pits.	has_symptom
+fa2209dd960940db4432c87d0849d58e1aec3152	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder comprising cleft lip and/or @PHENOTYPICFEATURE$ and lip pits.	has_symptom
+124493ab2694a39afab4e4954b60b882ec368502	@DISEASE$ (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and @PHENOTYPICFEATURE$.	false
+0771579fe4ea8832a9405ab7a6897a4ce40db1f2	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and @PHENOTYPICFEATURE$.	false
+019cf58981707c8f2787e78de4847a19f2f57a3a	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or @DISEASE$ and @PHENOTYPICFEATURE$.	false
+764cef1bb756ce67247d7d64c7a4f5f771f7a200	Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising @DISEASE$ and/or cleft palate and @PHENOTYPICFEATURE$.	false
+7dcc6ab0a7994d573f61dd7827d1d66a2f9b00a7	To compare cephalometrically 6-year-old children with @DISEASE$ and @PHENOTYPICFEATURE$ (VWS) to children with isolated cleft palate alone (CP).	has_symptom
+e874eefe1aad03a6526ae9fcb401138aa148cec8	To compare cephalometrically 6-year-old children with van der Woude syndrome and @PHENOTYPICFEATURE$ (@DISEASE$) to children with isolated cleft palate alone (CP).	has_symptom
+8675a90acb05fa37fd4f05e0d0e8aa216355108b	The Van der Woude syndrome (@DISEASE$) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or @PHENOTYPICFEATURE$.	has_symptom
+4d589793254f115cc7f38153ad78af2d952bf0f4	The @DISEASE$ (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or @PHENOTYPICFEATURE$.	has_symptom
+94520b6a0e89cc3943e772ae41567c559f248499	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	has_symptom
+56162b423b9f8eb89a17926b9e906b283b680eba	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+850c5b851fef6622e583daa0e9ff2f6b795fb120	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+991a89d4e3dc3792864cfbae9f4bb1915e5073c2	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @DISEASE$, telecanthus, small nose and full cheeks).	false
+7e537f870726a9a54fd5344456d5675bcd5ed45e	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+b65d54061a54e0e23bb025091aa273c100ac2a16	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+6c05c53d7ba6894d91129e5c5c1c487b301afbc4	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+4f411077621a7068fc5fffddcb99e8f1416ab001	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including @DISEASE$, telecanthus, small nose and full cheeks).	false
+6e3d2f0089af4dfb5092b24050bbfdbc4d676067	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+628c01a3183cf0971e391da67f5a5f9983dc816b	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+d15b638f46dec9c9e4f36bea7501bc8d377d07a1	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+161fec48959002641d9a56bfa15f4a3cad8a1f21	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+2aa5ea6ed7f58223f26fd8f9a3baf100f0873f4d	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+3d39cbad0f3cf6d05a99b87efb97e743dadafec5	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @DISEASE$, telecanthus, small nose and full cheeks).	false
+e932b64a1bece032d4b342400228edb2bac84221	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+df1963c7347cac70819d97254b27486afd979b63	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+4ea3d2cf0bd0a56386470c0f2de14c065416af4c	@DISEASE$ (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear @PHENOTYPICFEATURE$, and abnormal cartilage ossification or calcification.	has_symptom
+738b91f8282d56832c6abd531d325eea8dd36975	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	has_symptom
+d8cfe8463614b433cbc6da4a3cf36b418e3b230a	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for @DISEASE$ and skeletal dysplasia).	false
+f33d66cf1e1a334494e9ec977a7dcec4794ee2b1	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for @DISEASE$ and skeletal dysplasia).	false
+f24b74d7ef2011af2dfacc70d396a82273e55106	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+d05984e18043bc26b9ed2d8c41ae41212b6f80e6	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+cd8f81efaa1d5c26ea562666f193dfa2aa5b9395	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @DISEASE$ and @PHENOTYPICFEATURE$).	false
+b423eff3f0493575c07738372387948739a099ec	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+50606e3e2ab2a5f47d0a2e9c08fe2106185086e9	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+af827c881f6a023e8b53e8466eb91efb6e49c982	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+8b7cb56bf548b54d372bfdfb01dab137055a8c57	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+c21d2f8ff309e7f8e53903cf48e6b2963f4de3e8	Virtually all offspring from untreated pregnancies in women with @DISEASE$ have intellectual disabilities and @PHENOTYPICFEATURE$.	has_symptom
+67f4b727039fb710d2e7bf7acfec2d79542f3fcd	The offspring of mothers with untreated @DISEASE$ (PKU) have shown a high frequency of @PHENOTYPICFEATURE$, mental retardation, pre- and postnatal growth retardation, and birth defects.	has_symptom
+e33fba89257a649fb7014e8007e592404c47df3a	The offspring of mothers with untreated @DISEASE$ (PKU) have shown a high frequency of microcephaly, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and birth defects.	false
+1c96f0e7d6bd96254cb295d63f701aa217a51305	The offspring of mothers with untreated classic phenylketonuria (@DISEASE$) have shown a high frequency of microcephaly, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and birth defects.	false
+df36f6fc5598584ea334e5f422b0074c15e69999	The offspring of mothers with untreated classic phenylketonuria (PKU) have shown a high frequency of @DISEASE$, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and birth defects.	false
+aebc00fdcd7e6c77abb13c3eec8fd115cfa6c1ed	In one family hyperphenylalaninemia was differentiated from @DISEASE$ in two sisters with elevated blood P. In a second family maternal PKU was related to @PHENOTYPICFEATURE$ in two retarded siblings, one of whom was also homozygous for classic PKU.	has_symptom
+5f2fd100c5d82835226f14ba87e4cbfa6b9d8cce	In one family hyperphenylalaninemia was differentiated from classic PKU in two sisters with elevated blood P. In a second family maternal PKU was related to @PHENOTYPICFEATURE$ in two retarded siblings, one of whom was also homozygous for @DISEASE$.	has_symptom
+abcbcc11bc3fc9db0fe954780b6ee6295b2b600e	In untreated pregnancies wherein the mother has @DISEASE$ with a blood phenylalanine level > or = 1,200 microM (20 mg/dl), the frequencies of these abnormalities in offspring are exceedingly high, approaching 75-90% for @PHENOTYPICFEATURE$ and mental retardation and 15% for congenital heart disease.	has_symptom
+6b5222a0414489f9cfb10eb4c707af91fd793fdf	In untreated pregnancies wherein the mother has classic PKU with a blood phenylalanine level > or = 1,200 microM (20 mg/dl), the frequencies of these abnormalities in offspring are exceedingly high, approaching 75-90% for @DISEASE$ and @PHENOTYPICFEATURE$ and 15% for congenital heart disease.	false
+226264eae23b30046687c274bf6447dd2a998416	In untreated pregnancies wherein the mother has @DISEASE$ with a blood phenylalanine level > or = 1,200 microM (20 mg/dl), the frequencies of these abnormalities in offspring are exceedingly high, approaching 75-90% for microcephaly and @PHENOTYPICFEATURE$ and 15% for congenital heart disease.	false
+440ed1ffc5f8a19307cf73fc633f6826ca424709	In untreated pregnancies wherein the mother has classic PKU with a blood phenylalanine level > or = 1,200 microM (20 mg/dl), the frequencies of these abnormalities in offspring are exceedingly high, approaching 75-90% for microcephaly and @PHENOTYPICFEATURE$ and 15% for @DISEASE$.	false
+82518133476df6bb66a40c1b47fca5ada6eb7587	@DISEASE$ (KS) is a variant of epidermolysis bullosa simplex (EBS), which, in addition to the classic features of EBS, also presents with @PHENOTYPICFEATURE$, alopecia, hypodontia and nail dystrophy.	has_symptom
+56e31427d6fa0dbfa6e0bd79214f0c145e10f88b	The girl showed the main clinical features of the trisomy @DISEASE$, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, @PHENOTYPICFEATURE$, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases.	has_symptom
+dacef60f1b0163c32f41faac12cfaf3701bb4c7c	The girl showed the main clinical features of the trisomy @DISEASE$, such as psychomotor retardation, @PHENOTYPICFEATURE$ and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases.	false
+2b17eb411740afcfe01d269e1e0867bb45f15b85	The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, @PHENOTYPICFEATURE$ and brachycephaly, enophthalmos, antimongoloid eye slant, @DISEASE$, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases.	false
+af66f6feca2221b15848d097220f6ef568a7ce53	The patient has the features of both the Kleefstra syndrome and the chromosome @DISEASE$, including trigonocephaly, long philtrum, @PHENOTYPICFEATURE$, and retro-/micronagthia.	has_symptom
+12c562b2742910b21051208a2507a1c80c9bdc2c	@DISEASE$ (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, @PHENOTYPICFEATURE$, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers.	has_symptom
+22399317f55aac2a2aaa6e0ea63979794c434b46	Craniofacial-deafness-hand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound @PHENOTYPICFEATURE$, a small and short nose with slitlike nares, @DISEASE$, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers.	false
+386b91998e9927683316892aa044e5b729d3cbb4	@DISEASE$ (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound @PHENOTYPICFEATURE$, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers.	false
+e0fb138efd5c49d4d6f23f00b317aaad6c3baa8a	Introduction @DISEASE$ is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and @PHENOTYPICFEATURE$.	has_symptom
+99b8e1da07ec2aa8c5610b1752955ac6dd1d4e99	Introduction LEOPARD syndrome is a rare @DISEASE$ characterised by lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness.	false
+7e820ee9f9bd12a53c5bd0a67db97ed1df0d2ad7	Introduction @DISEASE$ is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness.	false
+ed755672814d5076938ac3a345457a912a79a488	Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth and @DISEASE$.	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+0f057905de2caea07b73fc5186ce8c0c818b4e4a	Generalized lentigo (@DISEASE$) is an autosomal dominant trait characterized by lentigo, @PHENOTYPICFEATURE$, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	has_symptom
+0b81c3e51d97640fb97f23c6a13ed3a320288c37	Generalized lentigo (leopard syndrome) is an autosomal dominant trait characterized by lentigo, @DISEASE$, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, @PHENOTYPICFEATURE$ or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+633971b2698efa6b7af9596b96b828a9dbd724ba	Generalized lentigo (@DISEASE$) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), @PHENOTYPICFEATURE$, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+234520d90f8ee88f02188da4dc848a427b281a93	Generalized lentigo (@DISEASE$) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, @PHENOTYPICFEATURE$ or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+bd090e1f59654d729f2a8ab5a19123b5f9e4e1b1	Generalized lentigo (leopard syndrome) is an autosomal dominant trait characterized by lentigo, @DISEASE$, retarded growth (below 25%), @PHENOTYPICFEATURE$, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+8127363c7664b8c81c7f2b28330bc40f03222be9	We report a typical case of @DISEASE$ with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+07639079a2177421b29667edea4caa4be911503c	We report a typical case of @DISEASE$ with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, @PHENOTYPICFEATURE$, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.	false
+22fd733fd73e6e09d95f685def83c391cef44a0e	We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, @PHENOTYPICFEATURE$, pulmonary valve stenosis, growth retardation, and @DISEASE$.	false
+9ccceeadf96ba6cd593b74bf0ea01b8d82798997	We report a typical case of @DISEASE$ with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+bc8f523226915d5f131a4ad3a8c989811ad380cb	We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2cb703bba53c3f75cd34d3e3ccd6375fcac55a7e	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	has_symptom
+f8c882807a716482023b5c785e4624bc60df55df	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	has_symptom
+cc60d23a420e5c7639f99b9d1d3fc2a68b60f96d	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @DISEASE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+e5394292be16ea03ce8e07a4b485e6cef438330c	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @DISEASE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	false
+aeb84d55b9fd65786763861459e40dd7963b00cd	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	false
+04a66b733ec0ed5399b35f0a4f01100e4ff21099	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	false
+78fcc20436d32da0480d0386f4ee913d6ccb6476	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+0317010c9e6269e083bad381fdd4f4c841f351b7	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+4ef582c19edf7f16fba9320b36042aa3b2d9aedd	A case of acute predominantly axonal motor and sensory neuropathy (AMSAN) is reported in a 16-year-old boy with @DISEASE$ (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and @PHENOTYPICFEATURE$).	has_symptom
+1312bb46733165d58a2a95d4fc5cc0f102ece9f4	A case of acute predominantly axonal motor and @PHENOTYPICFEATURE$ (AMSAN) is reported in a 16-year-old boy with LEOPARD syndrome (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and @DISEASE$).	false
+4f5931348d94694f96017127a84ec3463013bdea	A case of acute predominantly axonal motor and @PHENOTYPICFEATURE$ (AMSAN) is reported in a 16-year-old boy with @DISEASE$ (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness).	false
+698c2a7cd60c1985501df2d0ff30b0e6f8138eb0	A case of acute predominantly axonal motor and sensory neuropathy (AMSAN) is reported in a 16-year-old boy with LEOPARD syndrome (the acronym represents lentigines, ECG conduction abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, retardation of growth, and @DISEASE$).	false
+480493a667f7925bea1365e81fb8d84a999c70b1	A case of acute predominantly axonal motor and sensory neuropathy (AMSAN) is reported in a 16-year-old boy with @DISEASE$ (the acronym represents lentigines, ECG conduction abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness).	false
+2f5e23d0bc73ee060153114e2ad90adfbc718581	@DISEASE$ (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and @PHENOTYPICFEATURE$) is an autosomal dominant condition.	has_symptom
+cbb4fd3a8301010b1e9f35c09a8819f6302de242	@DISEASE$ (lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) is an autosomal dominant condition.	false
+ea2b7db4ceaaa39eae0ef95205db2a72d18c5afb	LEOPARD syndrome (lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, retardation of growth, and @DISEASE$) is an autosomal dominant condition.	false
+8bd440a1f3ceaf5cc74c76ff0a8426af03946093	@DISEASE$ is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and @PHENOTYPICFEATURE$) describing an autosomal dominant disease due to mutations in the raS-MapK pathway.	has_symptom
+8ae4cbc8c19e70961f2832d6e79e6071796c2ae7	Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an @DISEASE$ due to mutations in the raS-MapK pathway.	false
+0197b442dd8dd9b7ff52aca6dbc2fbaa66c0cb5f	Leopard syndrome is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, retardation of growth, and @DISEASE$) describing an autosomal dominant disease due to mutations in the raS-MapK pathway.	false
+6e893a97f6a8a695de1fca7c35e4afe320e03519	@DISEASE$ is an acronym (multiple Lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) describing an autosomal dominant disease due to mutations in the raS-MapK pathway.	false
+599a966536d7b7023bd4a8924d564f8f2eec3838	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+a3a0f95f13eb6b0d117b776f00c5d688b5974ac8	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+bae8510f0fa18b627caeba690ca0e1a9a9d48131	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.	false
+ffb7abe3a9b48559070e9eb079d64a6297299905	Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+460d11412d6102f9dee2fa44ab919297ae901399	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.	false
+d1a75ced848efc367397eb9c699984cdea9506c0	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+f44006d8ee206f7b0ebd6247b1ca757f0af0b2e0	Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and @DISEASE$.	false
+cc854d2cb02d366e1ea642213e4dd1bd4e5da996	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+125faa93995d5ed38a159eff41f9d93c3d176a5d	The @DISEASE$ is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, @PHENOTYPICFEATURE$, and cardiac and electrocardiographic abnormalities.	has_symptom
+efb9392c6b1466565fb149f0855aa0ea960e4dac	The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, @PHENOTYPICFEATURE$, abnormal genitalia, growth retardation, @DISEASE$, and cardiac and electrocardiographic abnormalities.	false
+d3c1d73a3ebaba7e918824866cbe80a46b7ef88e	The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, @PHENOTYPICFEATURE$, @DISEASE$, and cardiac and electrocardiographic abnormalities.	false
+a9372bc22d38ddda42bac7fd856356241c4084d1	The @DISEASE$ is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, @PHENOTYPICFEATURE$, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+df4ade713545d4bda06d412c8246ff8d5bff893d	The @DISEASE$ is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, @PHENOTYPICFEATURE$, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+ec20cb7b3d0fa5dd4c47bb15c3bc5ae4fd0aba27	The LEOPARD syndrome is a rare, autosomal dominant @DISEASE$ characterized by lentiginosis, @PHENOTYPICFEATURE$, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+7ad9c3e077dfd375a197134c6f19036ab6ebd45e	The LEOPARD syndrome is a rare, autosomal dominant @DISEASE$ characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, @PHENOTYPICFEATURE$, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+74a272f6ad7292595ed580a8024c522846f640ed	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, @PHENOTYPICFEATURE$, brittle and thin toenails, and bilateral brachydactyly of the big toes.	has_symptom
+6b885cc8acf8e205fdcdec63a7ff05127eb48d7d	@DISEASE$ (TRPS) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, @PHENOTYPICFEATURE$, brittle and thin toenails, and bilateral brachydactyly of the big toes.	has_symptom
+96c37eb1f303b8e480409e14fea45d7400b516df	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral @PHENOTYPICFEATURE$ of the big toes.	false
+5f6838342f094ffd027f1e8c66d2edc531fb8fa9	@DISEASE$ (TRPS) is an autosomal-dominant congenital @PHENOTYPICFEATURE$ disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+6509e1db6f0548cdcc4a2a91f093837fbe9bf6b7	@DISEASE$ (TRPS) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral @PHENOTYPICFEATURE$ of the big toes.	false
+6a417e8249380dc3c515cf75dc7b2909fa3634e5	Trichorhinophalangeal syndrome (TRPS) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, @DISEASE$, brittle and thin toenails, and bilateral @PHENOTYPICFEATURE$ of the big toes.	false
+cffc4bb73a2b7784fabc7e84a38447948c78cfc0	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and @PHENOTYPICFEATURE$, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+a46f2cd8ccd95b01344ff3ef0c2a304aaf9edfae	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal-dominant congenital @PHENOTYPICFEATURE$ disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+de98bff54ed40d81c64bf62eaef34c3b05eafb90	Trichorhinophalangeal syndrome (TRPS) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and @PHENOTYPICFEATURE$, pear-shaped nose, @DISEASE$, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+02e5322c353a940154e742195d8d787ed2bd9239	@DISEASE$ (TRPS) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and @PHENOTYPICFEATURE$, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+f09a6fe57dad8da9dfc6d7f1d3a3d2c1f7f697bf	Trichorhinophalangeal syndrome (TRPS) is an autosomal-dominant congenital @PHENOTYPICFEATURE$ disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, @DISEASE$, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+a30b36a542c4fc51b26c80f015cd1c5f0b7960d7	The @DISEASE$-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a @PHENOTYPICFEATURE$, and a horizontal groove on the chin.	has_symptom
+dec4fc312e7320793a9c8c3017e154833c567f3d	Trichorhinophalangeal syndrome type I (@DISEASE$ I) is a rare autosomal dominant disorder clinically characterized by sparse and slow-growing hair, pear-shaped nose, elongated philtrum, @PHENOTYPICFEATURE$, and bone deformities, in particular, cone-shaped epiphyses of the phalanges.	has_symptom
+52efe3e4a764a34cb4a46d334239a62c541c2c05	@DISEASE$ (CINCA) or Neonatal/Infantile Onset Multisystem Inflammatory Disease (NOMID/IOMID) is a rare, multisystem inflammatory disease characterised by neonatal onset of urticarial symptoms, persistent rash, @PHENOTYPICFEATURE$ lesions, progressive articular and neurological involvement and associated with characteristic overgrowth of the ossification nucleus of the patella.	has_symptom
+b495dc4fab02abf5e473b57741237c21c0f48471	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	has_symptom
+8d637a8340699ce950d0d8f8ade1a098ccd683db	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+59ff1197ef47be16d705a0800735b49bd4d9d44f	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @DISEASE$, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+437eddff46fba243a6148848192c935639edec5a	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+ade61fff4a2299851a0a57bee5e56601a8f51f94	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @DISEASE$, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+79174de3cc0bf5d5818deea841cc2bfffbdc26dc	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+9b64ee9849963b3805233edc68703839e1c7dbf6	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+2468c42cb21c9ada4da1e6affcd3a6162037e293	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+e05b1f05de9c22636c6f7065ac491232e0701ad1	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+338462f1a70973872af81c63e479d345dea2bf9a	Lysosomal enzymes in @PHENOTYPICFEATURE$: discovery of two new cases of late onset hexosaminidase A and B deficiency (@DISEASE$) in French Canadians.	has_symptom
+8f05600ac53398f564c1ac50a7176662a19ccec0	[Renal lesions in a case of @DISEASE$: association of angiomyolipoma, bilateral @PHENOTYPICFEATURE$ and renal clear-cell carcinoma].	has_symptom
+2fc742bf12675398b95303f2ab3b29ae2c3d9423	We report a case of successful renal transplantation in a patient of @DISEASE$ with bilateral @PHENOTYPICFEATURE$ presenting with renal failure who also underwent bilateral native nephrectomies on follow up.	has_symptom
+e22c5a1ef6fd569cecc7421869114d9c284d5e30	We report a case of successful renal transplantation in a patient of tuberous sclerosis with bilateral @DISEASE$ presenting with @PHENOTYPICFEATURE$ who also underwent bilateral native nephrectomies on follow up.	false
+bd44cb109cac3f4b4fb33a7cf0882ea5de4cdc75	We report a case of successful renal transplantation in a patient of @DISEASE$ with bilateral polycystic kidneys presenting with @PHENOTYPICFEATURE$ who also underwent bilateral native nephrectomies on follow up.	false
+a707038fafeba4be7c09326262ea7f1efb3590c9	@DISEASE$, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	has_symptom
+b526350609eb7b00fd0589fefbbb686a3afe85bd	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @DISEASE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and Hirschsprung disease.	false
+c7cd982a0c56feeaff0138c45d79fe1a408b2c48	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital @DISEASE$ with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and Hirschsprung disease.	false
+3506a2d60a5846133dd1eae98597c025d8583bd3	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare @DISEASE$ disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and Hirschsprung disease.	false
+3cd0757c0100aa73fe442004ebf6cf247bec32cb	@DISEASE$, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and Hirschsprung disease.	false
+9bf6d198acbf2e65b788be8052d84c4521f07c00	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+30557537970ac03cfb5690f28d1dbcd9dac8cc11	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by @DISEASE$ abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and Hirschsprung disease.	false
+2fe26134fad0ad747389be037596af32b90ed0d5	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	has_symptom
+d45da11a8fc27217b198478e9cc203486181d74c	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+e945d660e3e883f329b6c893924306de492aea5b	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+bc68425294552ab5e8395f39488be65606c37f73	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+6616ac2a0d3d21e328b873bf43deb6dadd0af607	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+33cd8d172e69805c44734785db357cd565dc5670	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+671bbefee159d599855b96290a768f2ca8ed70cf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+6a79dc1f275628f681a3af9ccbf8ee7f73100fd7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+17109ccb34d6eb59020800f6f9dc9a5f09bd8a26	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+2927990a9e4527ae780fc48b26209a1ebc5c1f2a	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+9f153d79211958dab45a47f33d9603342602ba2e	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f906bd9d526034c06477694c220c1c404a575c69	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+c561a378150fb1ef33da6e3ec3bfa8e661043aed	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f870fd04de78d06add068417e7db8a8712cb3681	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+b53b52a56572e3bba189525dde2dedf8e67f7eb0	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+5d30f3e99f5ae10aa4cd8c576d1b30dcaed7601d	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+58221cb265ea3f47d25d1f4b66dcf607877d2945	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f576863f3a36c7660e25de6d10275939e3b5e7fd	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+2fcb2853aae3f64796ae8c208608acbdda31d30e	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+d213d8567e34b47ff82122df688b8e23a68be1c4	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+cb751882805d6a0b4558f7b14308e9c5943a96c8	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+a075e2bc7cca8d7f6e4f2870520b833a5687adaf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+aa71b2d034a185a7a89b119634e36f033ffb0953	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+4ac957e6f5ea5210bd25d76d5f0d27df4ff4b6d7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+0439960325cfed22f45983f65556f30a55450758	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+27c12b0110196a0893674aaf78fde6dcc21ab6c4	@DISEASE$ (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt @PHENOTYPICFEATURE$ or generalised tonic-clonic seizures.	has_symptom
+39991ffd8506b7d88ba55d634ead81a54755fdce	@DISEASE$ (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or @PHENOTYPICFEATURE$.	false
+329cbae54b6f0e325e8a36c2883f54f445b1aa1e	Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt @DISEASE$ or @PHENOTYPICFEATURE$.	false
+6f25337809f8e823002fa1938d0a5d2d87e3c189	Here we described the clinical and electrophysiological features of three siblings with @DISEASE$ syndrome mimicking juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	has_symptom
+2468c42cb21c9ada4da1e6affcd3a6162037e293	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	has_symptom
+8d637a8340699ce950d0d8f8ade1a098ccd683db	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+81f51c614ea3e659838caa37b5a926a813ff27b7	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+b495dc4fab02abf5e473b57741237c21c0f48471	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+f82f69506a67648e3b613f5a3a01bceafd414075	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+437eddff46fba243a6148848192c935639edec5a	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+a5bf42372ce85c1336377165fab0f4894cf800fb	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+79174de3cc0bf5d5818deea841cc2bfffbdc26dc	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+5dbc6be9bda376df35a78e7254f0cad2afd3c08c	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and @DISEASE$.	false
+c4467017d690402a89a75007d7218b317d93a250	This case differs from the classical @DISEASE$ in having isolated hand malformations without any other malformations such as @PHENOTYPICFEATURE$ or cardiac abnormalities.	has_symptom
+9b08c49fe6b8669b637bffceaf503f7bbb42f943	This case differs from the classical Catel-Manzke syndrome in having isolated hand malformations without any other malformations such as @DISEASE$ or @PHENOTYPICFEATURE$.	false
+e653e372eb3a5b53c0ddeba433eb2b470558b8d9	This case differs from the classical @DISEASE$ in having isolated hand malformations without any other malformations such as cleft palate or @PHENOTYPICFEATURE$.	false
+3cc24c5f4fb2c7f7f855c3c3dfdacce1dc7674d2	@DISEASE$ is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without @PHENOTYPICFEATURE$.	has_symptom
+fda412950b99d96238197c27c64cb008d8e71514	@DISEASE$ is characterized by hyperphalangism with bilateral deviation of the index fingers and @PHENOTYPICFEATURE$ with or without cleft palate.	false
+c6a7111e7760e12fc225abd931e7a8cc1718e22c	Catel-Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and @PHENOTYPICFEATURE$ with or without @DISEASE$.	false
+41ce19e7b57495f8a9d8060a940c39237ff54a70	We describe a 3-month-old male infant with @PHENOTYPICFEATURE$, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of @DISEASE$.	has_symptom
+c66be7bfb0c9849801cae494097da1983f0edc3f	We describe a 3-month-old male infant with cleft palate, glossoptosis, @PHENOTYPICFEATURE$, and bilateral clinodactyly, an association which is characteristic of @DISEASE$.	false
+166bbe62274f087882ca69a892b2861e798db967	We describe a 3-month-old male infant with @DISEASE$, glossoptosis, @PHENOTYPICFEATURE$, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome.	false
+4fef9ef3716c52a628e2227e25f325ad24f01bfd	EED-associated overgrowth (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @PHENOTYPICFEATURE$ (OGID), along with other features similar to Weaver syndrome.	has_symptom
+d669121bb72a3fc0825e554287aac7f8cb8b97a3	EED-associated overgrowth (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and intellectual disability (OGID), along with other features similar to Weaver syndrome.	false
+6516e77057bd8e09d78d1f5da54651c08997b9e8	EED-associated @PHENOTYPICFEATURE$ (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and intellectual disability (OGID), along with other features similar to Weaver syndrome.	false
+9dd09fc57b702fc9d3404fe57585cae2c5f62a93	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and @DISEASE$ (OGID), along with other features similar to Weaver syndrome.	false
+5bf6c7befd5e2833a3b1867cd305491053e19c9a	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and intellectual disability (OGID), along with other features similar to @DISEASE$.	false
+07d744e9f8d8d136253013bd785a96a6b783dd57	EED-associated @PHENOTYPICFEATURE$ (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @DISEASE$ (OGID), along with other features similar to Weaver syndrome.	false
+a940c5ae3c5314378609a341b11b2249f74b6b83	EED-associated @PHENOTYPICFEATURE$ (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and intellectual disability (OGID), along with other features similar to @DISEASE$.	false
+f0936c8eb82878f28519435bc8e7ec359b8a6263	Inherited myopathies are major causes of @PHENOTYPICFEATURE$ and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal contractures.	has_symptom
+ffa697649f750a9087759a5b2435545969c845bb	Inherited myopathies are major causes of muscle atrophy and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	false
+74a7d80fccdf6008f735927485f54952d581de5e	Inherited @DISEASE$ are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	false
+b7d804daa48db5481a27cb19e4cc18d089c75d31	Inherited myopathies are major causes of @DISEASE$ and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	false
+691ed92cb548885c31f1cfb4dee8f0bd3ca7f6a9	A case is described with the characteristic clinical features of @DISEASE$: childhood onset in a male, very slowly progressive weakness and @PHENOTYPICFEATURE$, limitation of neck and trunk flexion, joint contractures, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	has_symptom
+6fb94bd041e87b380c728b2bdd4ae32634200968	A case is described with the characteristic clinical features of @DISEASE$: childhood onset in a male, very slowly progressive weakness and muscle atrophy, limitation of neck and trunk flexion, @PHENOTYPICFEATURE$, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	false
+04127be56e651bf503aaad22cbab1ca99fdad0f7	A case is described with the characteristic clinical features of rigid spine syndrome: childhood onset in a male, very slowly progressive weakness and @DISEASE$, limitation of neck and trunk flexion, @PHENOTYPICFEATURE$, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	false
+4634bae4663e025433522b0e39157fce8076c770	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, @DISEASE$, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	has_symptom
+e1e29f48584c96466454444f51275f3b35231d84	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including @DISEASE$, Arima syndrome, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+3e67763bdde555461a5f4248e6638a2551b95fab	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @DISEASE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+7a618f91e05034a1008ee8b7a4b8cd146307c9d2	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, @DISEASE$, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+5a632f1e24257f595a3053de96b1adbde60ef81d	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken @DISEASE$, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+1ca834786d9ea328207d504d566943c33987a9a1	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, @DISEASE$, and probably familial juvenile nephronophthisis.	false
+9c0c6de2ba7e84b8c800b39a062f3c332f9916d6	Case reports of three teenage patients with nonfamilial diffuse @DISEASE$ are presented to illustrate the considerable morbidity and significant @PHENOTYPICFEATURE$ that may occur.	has_symptom
+0e371745da756ad87fd61b70d7733ad0f85983aa	In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of @DISEASE$ (@PHENOTYPICFEATURE$, short stature, hypotonia).	has_symptom
+b29251781abe9c38cab4d6e77ae3d052d37eb4d4	In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (@DISEASE$, @PHENOTYPICFEATURE$, hypotonia).	false
+6ee92c93e5226b2bdc1996a87057d3085e3f8338	In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of @DISEASE$ (microcephaly, @PHENOTYPICFEATURE$, hypotonia).	false
+93cf077492c07cfe5221da68eca0b57a325fb48e	The child had findings in common with those seen in @DISEASE$ including: @PHENOTYPICFEATURE$, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay.	has_symptom
+c3eec7f283cf5f10c6f2b285e8fcbffef72367da	The child had findings in common with those seen in 18q- syndrome including: microcephaly, @PHENOTYPICFEATURE$, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, @DISEASE$, and developmental delay.	false
+5b96cca8e6b9d2ed4c68ebc505b064b38a5b4d1e	The child had findings in common with those seen in @DISEASE$ including: microcephaly, @PHENOTYPICFEATURE$, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay.	false
+11abb64f0cde43394dd2bc2d385616197ceab6c7	The child had findings in common with those seen in 18q- syndrome including: @DISEASE$, @PHENOTYPICFEATURE$, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay.	false
+0ad1e788103e71c67abcbe88c470eccb5c91ce39	We describe a case presentation of acquired and self-limited simultaneous hemophagocytic lymphohistiocytosis and @DISEASE$ in a 16-year-old in the United States who presented with fevers, night sweats, and @PHENOTYPICFEATURE$, along with tiredness and decreased appetite along with pancytopenia and elevated lactate dehydrogenase.	has_symptom
+752b2f111f3252028331773d837e4457cf5eab24	@PHENOTYPICFEATURE$ and papilledema in the @DISEASE$ (mucopolysaccharidosis type VI).	has_symptom
+7b9e9f74f1aeefc61ae30002cc141fd4651b4379	@PHENOTYPICFEATURE$ and papilledema in the Maroteaux-Lamy syndrome (@DISEASE$).	has_symptom
+ffb2ab721ebadc64f8d7437161ba2ed7acc00423	This paper reports the case of a 14-year-old child with Maroteaux-Lamy syndrome (@DISEASE$) who was treated consecutively for compressive damage of the optic nerves, @PHENOTYPICFEATURE$ communicans and progressive spastic tetraparesis within 2 years.	has_symptom
+d6effbecebca27cde2e9e4c42162e03fd011f2b6	This paper reports the case of a 14-year-old child with @DISEASE$ (mucopolysaccharidosis type 6) who was treated consecutively for compressive damage of the optic nerves, @PHENOTYPICFEATURE$ communicans and progressive spastic tetraparesis within 2 years.	has_symptom
+a8534e43b7ed5d7edde27ab748c1e660c02f3bec	Fasting glucose measurement as a potential first step screening for glucose @PHENOTYPICFEATURE$ in women with anovulatory @DISEASE$.	has_symptom
+1d73600fe376c1e82c4a3d8fc93a27d556843300	Though polycystic ovarian syndrome (@DISEASE$) is associated with multiple @PHENOTYPICFEATURE$, the metabolic risk profile of various PCOS phenotypes is still debated.	has_symptom
+b132eafde6d53671029daa1aa294145ab87094b9	Though @DISEASE$ (PCOS) is associated with multiple @PHENOTYPICFEATURE$, the metabolic risk profile of various PCOS phenotypes is still debated.	has_symptom
+b323a8e74aa11caffda4ace9dfb878826b47935f	The syndrome itself is associated with various @PHENOTYPICFEATURE$, including insulin resistance, non-alcoholic fatty liver disease, obstructive sleep apnoea, male hypogonadism and @DISEASE$.	has_symptom
+a02855f671f33020a0281cbe73355c3810b6ee55	The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive @PHENOTYPICFEATURE$, male @DISEASE$ and polycystic ovary syndrome.	false
+166b2d90f82b1270746fb152902c587480e1cbd4	The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, @DISEASE$, obstructive @PHENOTYPICFEATURE$, male hypogonadism and polycystic ovary syndrome.	false
+7c5b453844f8ca851a29af8b181488040d6bea44	The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive @PHENOTYPICFEATURE$, male hypogonadism and @DISEASE$.	false
+1567fd378e74f3f104342a05de7a67502734a552	The syndrome itself is associated with various @DISEASE$, including insulin resistance, non-alcoholic fatty liver disease, obstructive @PHENOTYPICFEATURE$, male hypogonadism and polycystic ovary syndrome.	false
+d105ca43e095035c4f3496ad444c08de1dd2f46f	The prevalence of glucose @PHENOTYPICFEATURE$ in Greek women with @DISEASE$.	has_symptom
+b9d1e5c8c7425869ac79c91a04903df3c88dd0e6	@DISEASE$ (PCOS) is associated with reproductive and @PHENOTYPICFEATURE$, specifically menstrual dysfunction and anovulation in conjunction with elevated pre-antral follicle number and arrested follicular maturation.	has_symptom
+907f4a792ebc647e31628df701a0966ec6c591d3	[Clinicopathologic features of @DISEASE$ with synchronous @PHENOTYPICFEATURE$].	false
+567805f2d798a96bd678b3698e337d7c69aeb3ef	@DISEASE$ are uncommon intra-abdominal @PHENOTYPICFEATURE$.	false
+635e6ec7eb42840ba5b1c7ec8d88f82e9a1a6490	Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them (UPD@DISEASE$) and two submicroscopic rearrangements causing blepharophimosis and @PHENOTYPICFEATURE$ (BMR) syndrome.	has_symptom
+d565bce2533eea6d2f13d7a3f084634863e40f94	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	has_symptom
+b082597df1186cbb73c989300c4a88ae385aea0d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (@DISEASE$, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+50dab4777eda660c2973fc6c66f89c57144a80d5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+fd85ad08a307461ac42875e4b8cad7a63fa60319	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eec99ff4088dcb824b2b4c3cc707272291ad8d2f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (@DISEASE$, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+217be1275c984620d9d247d51b7f4ba7b4e997de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset @DISEASE$ 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+23fe04a7f87af4fc9dcc2e91fc81a676f0fb2ed4	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, @DISEASE$, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0323cd6355fbb6ae31c37a85942e9f19699ef52c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+f0bb350572273c6ac5c988e3f30cfde093154e79	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal @DISEASE$, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+2e62987e29e43aa33ac8929001d43020ae232192	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (@DISEASE$ susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0cb020dc64913eba5b5770ddd6b9bc89e779580d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+d97c06982d8b1bf04e85c359b9989dbf238fd512	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+6959a9a765c141f863fddb73ea2e1a64a5a942b7	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, @DISEASE$ of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+6fb176b0f4309b43cbd0f01740715b8f30a0968d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB @DISEASE$ (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+9e4fa23e326d70b7eba1bd672c2087f1e395a75e	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dd0865bec5fa6427371c614585df228799ff1334	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @DISEASE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+5cce6c802e1551cb151e4dd753dc6e944f3c2e50	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+30385319ab3335aabac40269381d3aefbc60994d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+71963d587fdc51e683fa77dea12018232c1a0b33	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+bcd6c1a6e270fbb28b4abc2ad10ba9d31deac5de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+390ab6e03631a93dcb92534a8e617e3bfdba905c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+36f8ae66df1bee6d8eeffcc92b1287eb7be5bc46	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+9d87459bf7eb926f1aa66d8dfae3ffcbf4443922	Typical craniofacial features, developmental delay/mental retardation, @PHENOTYPICFEATURE$ and sensorineural defects characterize @DISEASE$.	has_symptom
+602118f75e404fdca174409ded8bce97097adbb0	Typical craniofacial features, developmental delay/@PHENOTYPICFEATURE$, @DISEASE$ and sensorineural defects characterize 1p36 deletion syndrome.	false
+df2d83747630d7ecf391c3168a9e3e41c98ba601	Typical craniofacial features, developmental delay/@PHENOTYPICFEATURE$, seizures and sensorineural defects characterize @DISEASE$.	false
+9c88b0e9a5aff5c23d45e7b81a2729be087b89ad	The monosomy @DISEASE$ phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: @PHENOTYPICFEATURE$ and hydrocephalus (in some cases).	has_symptom
+1d68b4c86a885985cb5cfa1a58f546a86d34e109	The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: @DISEASE$ and @PHENOTYPICFEATURE$ (in some cases).	false
+f0affa3dc2d6be4d2beb03a7b0eb19816d816161	The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological @DISEASE$: seizures and @PHENOTYPICFEATURE$ (in some cases).	false
+e35229290ecf9e8ffd73ac737f6e28aa1cec95db	The monosomy @DISEASE$ phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and @PHENOTYPICFEATURE$ (in some cases).	false
+c91edfdcf9810dcb3389ef88b81f44d78446d872	We describe four children with @DISEASE$, @PHENOTYPICFEATURE$ and apneic episodes.	has_symptom
+f2780551a77e8033cf2e9c7e5e709992342199f5	Previous reports have summarized the @PHENOTYPICFEATURE$ types occurring in @DISEASE$.	has_symptom
+bc3b1f139bb69f2438c2f4520aaaf1580ceb408d	@DISEASE$ is a well-described condition with a recognizable phenotype, including cognitive impairment, @PHENOTYPICFEATURE$, and structural brain anomalies such as periventricular leukomalacia (PVL).	has_symptom
+bb447d33f256948049e8609ce7b03f43b59e94b0	@DISEASE$ is a well-described condition with a recognizable phenotype, including @PHENOTYPICFEATURE$, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL).	false
+2487a1331968eb8bf6879aaf75c9fa060b33858b	1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including @PHENOTYPICFEATURE$, seizures, and structural brain anomalies such as @DISEASE$ (PVL).	false
+fd566659f6daafbaf6beaf26d54829da75370604	1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including @PHENOTYPICFEATURE$, @DISEASE$, and structural brain anomalies such as periventricular leukomalacia (PVL).	false
+b16558aedd0c69de1d6b00e46a7a8b43b987164e	In the present study, a carrier with slight @PHENOTYPICFEATURE$ was detected in the family analyzed; however, no patients with deafness or @DISEASE$ were observed.	has_symptom
+d295f21b34537ef4bbd52a6260fc9b0f68657963	In the present study, a carrier with slight hearing impairment was detected in the family analyzed; however, no patients with @PHENOTYPICFEATURE$ or @DISEASE$ were observed.	has_symptom
+2a29eba364b61d9a96906d306b3b27b8451824c6	They may be a part of branchiootorenal (@DISEASE$) syndrome, which is characterized by branchial arch anomalies, preauricular pits, @PHENOTYPICFEATURE$, and renal malformations.	has_symptom
+f6b26aef7827624ba9e266cc30156d29a275593e	They may be a part of branchiootorenal (@DISEASE$) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and @PHENOTYPICFEATURE$.	false
+ba2daf66e9ae28cd13d4f4bffa976d142bef3235	They may be a part of branchiootorenal (BOR) @DISEASE$, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and @PHENOTYPICFEATURE$.	false
+fcdeb79c170be3b0e5fc68882a94fc869af25b81	They may be a part of branchiootorenal (BOR) syndrome, which is characterized by branchial arch anomalies, preauricular pits, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9227f122681cdc7d52ad00b9ebcbbd5397e9dd59	@DISEASE$ is an autosomal dominant disorder that affects an estimated 2% of profoundly @PHENOTYPICFEATURE$ children.	has_symptom
+94e7a113edd160c5ad54d016a552408aae2113ac	Whether families that show dominant inheritance of pits, clefts, and @PHENOTYPICFEATURE$ without renal anomalies represent variants of the @DISEASE$ syndrome or a separate entity (the BO syndrome), is still not clear.	has_symptom
+96136400a29c01433a2ab2e3c01ce105f2cd8f71	Whether families that show dominant inheritance of pits, clefts, and @PHENOTYPICFEATURE$ without renal anomalies represent variants of the BOR syndrome or a separate entity (the @DISEASE$), is still not clear.	has_symptom
+560b83986851c95d0d9bec6f61edbf915a0a7854	Whether families that show dominant inheritance of pits, clefts, and deafness without @PHENOTYPICFEATURE$ represent variants of the BOR syndrome or a separate entity (the @DISEASE$), is still not clear.	false
+9c3b362d08e0c817d4fb193d93ce537cf7c66c19	Whether families that show dominant inheritance of pits, clefts, and @DISEASE$ without @PHENOTYPICFEATURE$ represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear.	false
+8ed4190c56041616e2323605f8286d4a5b76b470	Whether families that show dominant inheritance of pits, clefts, and deafness without @PHENOTYPICFEATURE$ represent variants of the BOR @DISEASE$ or a separate entity (the BO syndrome), is still not clear.	false
+2da8344035e3cd3a6eac688842e53ae7d55a1916	Whether families that show dominant inheritance of pits, clefts, and deafness without @PHENOTYPICFEATURE$ represent variants of the @DISEASE$ syndrome or a separate entity (the BO syndrome), is still not clear.	false
+daba23efacb9f4c532c31f51d1665cf049c9a3d2	Brazilian pedigree with individuals affected by @DISEASE$ characterized by @PHENOTYPICFEATURE$ and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities.	has_symptom
+6aa327efa45cfb014052fe9f80a29c786ced88a4	Preauricular sinuses are features of other conditions or syndromes in 3-10% of cases, primarily in association with @PHENOTYPICFEATURE$ and branchio-oto-renal (@DISEASE$) syndrome.	has_symptom
+acf08ad946208ad230f5e89e9c469f9da2962830	Seven patients had @DISEASE$ syndrome (two familial and five sporadic), and eight had @PHENOTYPICFEATURE$ and renal malformations without branchial fistula (BOR-related conditions).	has_symptom
+441f89834fa17fe3053d35834362b6b19723cf90	Seven patients had BOR @DISEASE$ (two familial and five sporadic), and eight had deafness and @PHENOTYPICFEATURE$ without branchial fistula (BOR-related conditions).	false
+655c847c0d228ac289a61cf916a6ee02dfae7975	Seven patients had @DISEASE$ syndrome (two familial and five sporadic), and eight had deafness and @PHENOTYPICFEATURE$ without branchial fistula (BOR-related conditions).	false
+2946ff4a4d277ac6b756402db221c054a6a24ee6	Seven patients had BOR syndrome (two familial and five sporadic), and eight had @DISEASE$ and @PHENOTYPICFEATURE$ without branchial fistula (BOR-related conditions).	false
+67d9ad49fed9547eacbf9743bfb596fe494c47c2	Since several hereditary @PHENOTYPICFEATURE$ disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for @DISEASE$ syndrome.	has_symptom
+6aa327efa45cfb014052fe9f80a29c786ced88a4	Preauricular sinuses are features of other conditions or syndromes in 3-10% of cases, primarily in association with @PHENOTYPICFEATURE$ and branchio-oto-renal (@DISEASE$) syndrome.	has_symptom
+8244da425aba0d6abae0077fa87043f2d29d76d1	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant condition of branchial arch anomalies, @PHENOTYPICFEATURE$ and renal dysplasia.	has_symptom
+96741ae94b550ad0fe11073c6529b7c40dd3de5c	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (@DISEASE$), one patient with Chanarin-Dorfman's syndrome, and one patient with @PHENOTYPICFEATURE$, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	has_symptom
+2abc823c0bc6d004c54b82363cc510cc2761d8ca	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's @DISEASE$, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+bf47d12f729c68687d2cc6256474953f670c6f71	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (@DISEASE$), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+1ff9b82e7ff4de6eb35606948bb2290b7ff38ba3	There were eight patients with Sj?gren-Larsson @DISEASE$ (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+491548b1bd444c8e6350b6252fc4c3a978d51d4c	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) @DISEASE$.	false
+88c087491dcd0f5c79a70619c4be61d8c79740ab	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, @DISEASE$, and keratodermia (MEDNIK) syndrome.	false
+bbc7b519ddeb48ddf4337fefbd077571bdc1c0d6	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and @DISEASE$ (MEDNIK) syndrome.	false
+1881e41dd56cff70dfece6b4f67d122fb581807f	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with @DISEASE$, enteropathy, @PHENOTYPICFEATURE$, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+b79214a35cff39748b76fec9cf4ddc77f4da14f5	There were eight patients with Sj?gren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, @PHENOTYPICFEATURE$, @DISEASE$, ichthyosis, and keratodermia (MEDNIK) syndrome.	false
+1a7374a013f3f7a9c19b108323a3337845c71807	[Bilateral @PHENOTYPICFEATURE$ caused by disseminated @DISEASE$ lupus erythematosus].	has_symptom
+dc89e8c6f2f53954ec98a571198f7103bdd957b9	The treatment approach to each is different, with @PHENOTYPICFEATURE$ more likely occurring from a fast (@DISEASE$) hematoma.	has_symptom
+ff7c1bba189a6e1126d23aa5ef4f31091ab6184a	A 5-year old girl with history of chronic renal failure due to dysplastic and polycystic kidney disease treated with peritoneal dialysis since birth wake up the the day after an scheduled uncomplicated peritoneal dialysis except for asymptomatic @DISEASE$ hypotension with bilateral @PHENOTYPICFEATURE$.	has_symptom
+38e8d20263bd1657f9f824e4a0598ff797fb7874	The allegations were failure to work up hemoptysis in a patient with asthma, leading to delays in the diagnosis of methicillin-resistant Staphylococcus aureus (MRSA) pneumonia and death; failure to continue antiretroviral therapy (@DISEASE$) plus failure to implement emergency treatment with antivirals specific for opportunistic infections of the eye, resulting in @PHENOTYPICFEATURE$; and failure to timely diagnose rhabdomyolysis with ensuing need for renal dialysis and accidental perforation of the vena cava and death.	has_symptom
+9bda45249e6fba47c1a4897cc3928368fbaf75fb	Mutations in SLC4A11 cause either corneal abnormalities (corneal hereditary dystrophy type 2) or a combined auditory and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+1a52b4269b4b8d99e9be6380c51374fb195978fc	@DISEASE$ is a neurodegenerative lysosomal storage disorder characterized by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+2e788418ad05d1321e411eeb186617ada0a99dac	@DISEASE$ (MPS IIIA) is an inherited neurodegenerative lysosomal storage disorder characterised by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+baf6f1d5c439371a4d91a5617c60aa47d2a5c6d0	Corneal clouding, causing @PHENOTYPICFEATURE$, is seen in nearly all patients with @DISEASE$ (MPS-1).	has_symptom
+3b494c85964d984a980e365f3e31c591c89b89cd	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, @PHENOTYPICFEATURE$ and seizures (@DISEASE$).	has_symptom
+c24d086112903f876aca78bf90d066f79e86abe4	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, @DISEASE$ and @PHENOTYPICFEATURE$ (Pettigrew syndrome).	false
+88777430e31460b204dcb9d51b3c285dc911bec7	AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1d5ab8dab99614a1398ed84697f869e89504cd15	AP1S2 is mutated in X-linked Dandy-Walker malformation with @PHENOTYPICFEATURE$, basal ganglia disease and seizures (@DISEASE$).	false
+e4a38f1719e362897d5764652a804be0b4c5d127	AP1S2 is mutated in X-linked Dandy-Walker malformation with @PHENOTYPICFEATURE$, @DISEASE$ and seizures (Pettigrew syndrome).	false
+9dded0fd3e55d34d2ced2107382207748f816722	A 3-month-old infant girl had manifestations of the @DISEASE$ (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, @PHENOTYPICFEATURE$, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	has_symptom
+d990c68c8147d1c0346584d4b2342b1f8096d839	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent @DISEASE$, @PHENOTYPICFEATURE$, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+33c9c2206e2779433576cd5058b4162c47308253	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, @PHENOTYPICFEATURE$, ptosis, anteverted nares, cleft of the posterior @DISEASE$, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+302fe30d3ff6372ccd9238d86224f6c8c821469d	A 3-month-old infant girl had manifestations of the @DISEASE$ (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, @PHENOTYPICFEATURE$, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+80ff03448667153f72b61a3c02dd03e474b648d6	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, @PHENOTYPICFEATURE$, @DISEASE$, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+b4edaa2e59ec9ad1fb77d19bb74ef87f63579d30	One female with @DISEASE$ had progressive external ophthalmoplegia, @PHENOTYPICFEATURE$ and cardiomyopathy with pneumonia and respiratory failure.	has_symptom
+3af8d1bdfb03bb2c4cc0f9d0549d606042be9209	Computed tomography showed infratentorial pronounced atrophy of the brain and @PHENOTYPICFEATURE$, in one case additionally ischemic infarctions, as can be seen in "@DISEASE$ syndrome" (MELAS).	has_symptom
+d88919e406dae40b83ad465dec8f3afa99f0da3e	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@PHENOTYPICFEATURE$, and craniosynostosis along with recognizable facial features and intellectual disability.	has_symptom
+955631f8d7cd26c53c02edec89ccad7eeb1bf73b	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+821b5d18e82bc7eeaeea820c60b1afa5358c2190	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and @PHENOTYPICFEATURE$.	false
+c167264ffeb1cae44f43cd88ab5346483ff65545	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+ec6c623ae395e770ba5fca515426fb673c669910	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and @PHENOTYPICFEATURE$.	false
+e34849378cf394166aa01fed1ba9c509c3bd6773	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@DISEASE$, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+d5d5988eab8762879a1a3e0625192e15f77a146a	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-@DISEASE$, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+de20ebd71b3472eaa48ee1c402aa5d7249e6a8cd	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+8655c190178ecb5928113e601fcc50693f00b355	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+fb6fe05e013f8c5c1c46bb32678d48be085d61a5	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@DISEASE$, and craniosynostosis along with recognizable facial features and @PHENOTYPICFEATURE$.	false
+9a8caaa1adaf8df32320cd0e8e2a60d5422674fd	Further delineation of @DISEASE$: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-@PHENOTYPICFEATURE$ and craniosynostosis.	has_symptom
+0ae882425fb8bf7d4f63e3cfb47c36b4e1e19157	Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-@PHENOTYPICFEATURE$ with cono-brachydactyly and @DISEASE$.	false
+36c8eec973d0d3071533b08a771bfab52215a656	Further delineation of @DISEASE$: A RSPRY1-associated spondylo-epi-@PHENOTYPICFEATURE$ with cono-brachydactyly and craniosynostosis.	false
+de45833a48704cb36dc3297097d164a2d505412f	Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-@PHENOTYPICFEATURE$ with cono-@DISEASE$ and craniosynostosis.	false
+c87e3e3cc1788d29a7acb5f0236619a97bfcc14a	[@PHENOTYPICFEATURE$ and @DISEASE$: Report of two children].	has_symptom
+8b989dd3cb5d6544242419e6ebea505655e17808	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+9f0fcff7e78621df2cd3aa05dcfc5a6bda5f0293	Three novel mutations in the ANK membrane protein cause @DISEASE$ with variable @PHENOTYPICFEATURE$.	has_symptom
+e8a0c729ff0d062749e31446a1ea40ed13bbfded	@DISEASE$ (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, heart defects, and @PHENOTYPICFEATURE$.	has_symptom
+0acde92e18400d91e84ac6aec3845c22326dbb5b	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+c18691b479596275c275c3466632ecb469087d5c	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ce71b5cd87150699ed4760210fd9ca8f120a5208	@DISEASE$ (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including @PHENOTYPICFEATURE$, cleft lip and palate, heart defects, and mental retardation.	false
+b35793b06bd16b8abaa5877f215e1b2ed158f9a8	@DISEASE$ (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, @PHENOTYPICFEATURE$, and mental retardation.	false
+6d83df7b43246778ea22bb1387a77d0f142d7f23	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including @PHENOTYPICFEATURE$, cleft lip and palate, heart defects, and @DISEASE$.	false
+27b7ec147b7df6f0d8fd6654c2c241fd4a7fabfa	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including @PHENOTYPICFEATURE$, @DISEASE$, heart defects, and mental retardation.	false
+8c41cdab02177aea51d1edbff1b2b27f7a0347ac	@DISEASE$ is a rare autosomal recessive disorder of cholesterol metabolism associated with @PHENOTYPICFEATURE$ and multiple congenital malformations.	has_symptom
+847196dfa3a29c04f2290ceee664b131981a73e9	We describe here the clinical and laboratory responses to DLE therapy of 2 patients with @DISEASE$ (EV), a chronic @PHENOTYPICFEATURE$ with a variety of human papilloma viruses.	has_symptom
+ced9743d3fcb375ac38d9a910762b879786259bc	The @DISEASE$ patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in functionally significant neurologic, LTE, anal, and @PHENOTYPICFEATURE$.	has_symptom
+980afa0b7909334240a4592652a5b50538835c50	@DISEASE$ patients have dramatic @PHENOTYPICFEATURE$ and marked growth and developmental delay.	has_symptom
+8e9ef62872b084f1057d09f6b40301ccc3bd0fdd	Ataxia telangiectasia and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in @DISEASE$ (ATR-SS), a disorder characterized by severe @PHENOTYPICFEATURE$ and growth delay.	has_symptom
+544e0494d6e9d80d38c0cc46e81c74e35e39857a	Two children, a brother and a sister with @PHENOTYPICFEATURE$, and their short adult female sibling presented with @DISEASE$.	has_symptom
+3d10ffa97e30de17f6ed3981c10024bffb922eb5	The results indicate that brief androgen administration can be helpful in delineating the cause of @PHENOTYPICFEATURE$ in boys with short stature and delayed sexual maturation, particularly when the diagnosis of @DISEASE$ is suspected.	has_symptom
+66eda216ff4f9b14ea2642d2054ddfed90482043	The results indicate that brief androgen administration can be helpful in delineating the cause of growth retardation in boys with @PHENOTYPICFEATURE$ and delayed sexual maturation, particularly when the diagnosis of @DISEASE$ is suspected.	false
+14aa7f6d61dc56e0bbe7d904c7b8c66267a21a7d	The results indicate that brief androgen administration can be helpful in delineating the cause of @DISEASE$ in boys with @PHENOTYPICFEATURE$ and delayed sexual maturation, particularly when the diagnosis of isolated growth hormone deficiency is suspected.	false
+7343f20165290bbfb11f47acc3fd65ca5927dc44	The phenotypic characteristics of @DISEASE$ (IGHD) type IB in humans, such as autosomal recessive inheritance, time of onset of @PHENOTYPICFEATURE$, diminished secretion of growth hormone (GH) and IGF-I, proportional reduction in weight and size, and delay in sexual maturation, has much in common with the phenotype of the homozygous little/little (lit/lit) mouse.	has_symptom
+379a84e5f177358a8e4cb87d6c86bae0e487f0ec	The phenotypic characteristics of isolated growth hormone deficiency (@DISEASE$) type IB in humans, such as autosomal recessive inheritance, time of onset of @PHENOTYPICFEATURE$, diminished secretion of growth hormone (GH) and IGF-I, proportional reduction in weight and size, and delay in sexual maturation, has much in common with the phenotype of the homozygous little/little (lit/lit) mouse.	has_symptom
+3affda81cd41bda7668d064f13b0d7a9c2bc42a7	It was concluded that the various craniofacial skeletal components have different potentials for @PHENOTYPICFEATURE$ with @DISEASE$; catch-up growth following growth hormone replacement therapy was greatest for the components with the greatest initial (or baseline) growth potential.	has_symptom
+7f07e5dcda1073644613280bac26744163a4e51d	50 Years ago in The Journal of Pediatrics: Hypoglycemia, @PHENOTYPICFEATURE$, and probable @DISEASE$ in a 1-year-old child.	has_symptom
+ef09935ae1eaa874af524ff1746236200b72ad50	GHD is a common cause of @PHENOTYPICFEATURE$, and @DISEASE$ is a specific subtype of GHD in which patients present solely with short stature.The standard treatment for IGHD is subcutaneous synthetic GH until mid-parental height is reached, with peak height velocity attained in the 1st year of treatment in the vast majority of patients.Genetic testing should be strongly considered in cases of diagnostic uncertainty prior to initiating treatment.Future investigations of GH treatment response that stratify by gene and specific mutation will help guide treatment decisions.Response to treatment in patients with IGHD is variable, with some patients demonstrating little to no response, while others are 'super-responders.'	has_symptom
+387fadb016324d845ce2b9dd37932332ee2f2375	GHD is a common cause of @PHENOTYPICFEATURE$, and IGHD is a specific subtype of GHD in which patients present solely with short stature.The standard treatment for IGHD is subcutaneous synthetic GH until mid-parental height is reached, with peak height velocity attained in the 1st year of treatment in the vast majority of patients.Genetic testing should be strongly considered in cases of diagnostic uncertainty prior to initiating treatment.Future investigations of GH treatment response that stratify by gene and specific mutation will help guide treatment decisions.Response to treatment in patients with @DISEASE$ is variable, with some patients demonstrating little to no response, while others are 'super-responders.'	has_symptom
+49a67673d454068660e442ceeb63ebb3c5b19547	GHD is a common cause of @PHENOTYPICFEATURE$, and IGHD is a specific subtype of GHD in which patients present solely with short stature.The standard treatment for @DISEASE$ is subcutaneous synthetic GH until mid-parental height is reached, with peak height velocity attained in the 1st year of treatment in the vast majority of patients.Genetic testing should be strongly considered in cases of diagnostic uncertainty prior to initiating treatment.Future investigations of GH treatment response that stratify by gene and specific mutation will help guide treatment decisions.Response to treatment in patients with IGHD is variable, with some patients demonstrating little to no response, while others are 'super-responders.'	has_symptom
+8634bd25abf3ac446b475dec1a2dd69c94b25035	@DISEASE$ (ARPKD) is an inherited cystic disorder that produces @PHENOTYPICFEATURE$ in infants and children and is caused by mutations of PKHD1.	has_symptom
+88480d6bb3d32c883cf6fbb3a1eee292d896a564	Autosomal recessive polycystic kidney disease (@DISEASE$) is an inherited cystic disorder that produces @PHENOTYPICFEATURE$ in infants and children and is caused by mutations of PKHD1.	has_symptom
+8fb3f8c5203c88e6ed26923d32cfb62a2b71924d	Liver disease in @DISEASE$: clinical characteristics and management in relation to @PHENOTYPICFEATURE$.	has_symptom
+6f9d5007a33e6381758c8dac9de6558974ee16ae	To determine which US changes occur with time in children affected by autosomal recessive (@DISEASE$) and autosomal dominant polycystic kidney disease (ADPKD) and whether any of these changes correlate with the onset of @PHENOTYPICFEATURE$.	has_symptom
+05565ae2449535a662b7d3f32e6155e9f7c4824c	In the newborn, @PHENOTYPICFEATURE$ may have a prenatal onset in congenital diseases such as renal dysplasia with or without obstructive uropathy and in genetic diseases such as @DISEASE$.	has_symptom
+843418b93721d6d2c653f5b23f7502a87a95e574	In hereditary conditions, autosomal dominant and @DISEASE$, the shape, size, and the weight can be significantly abnormal, causing progressive @PHENOTYPICFEATURE$, often necessitating dialysis or renal transplant for survival.	has_symptom
+2c8e5d49dfe080bdec9dd461ec20f352f3820dd3	Newborn infants with perinatal @DISEASE$ often have poor outcome and died from respiratory and @PHENOTYPICFEATURE$.	has_symptom
+4fda17a9b35eb2fa2b5ac803b52807c00e77939d	@DISEASE$ (ARPKD) can cause @PHENOTYPICFEATURE$ and portal hypertension in children.	has_symptom
+3b7189d4586d63dabc85d2cb7951c392627b70da	Autosomal-recessive polycystic kidney disease (@DISEASE$) can cause @PHENOTYPICFEATURE$ and portal hypertension in children.	has_symptom
+f58b57bb0b2dd789e008880921d2e9132098c7e2	@DISEASE$ (HD) is caused by a dominant @PHENOTYPICFEATURE$ in HTT, the HD gene.	has_symptom
+925143e262ff759a7e799d0ac792dc87c90d7553	Unlike illnesses such as @DISEASE$, which are caused by a fully penetrant dominant @PHENOTYPICFEATURE$, no single "schizophrenia gene" has been identified.	has_symptom
+db0aee2f2d661df6b0f4fcad6c33156d7495dc80	Although @DISEASE$ (HD) is caused by an autosomal dominant @PHENOTYPICFEATURE$, its phenotypic presentation differs widely.	has_symptom
+092e65854cf9377dee99b1271c8fd8235dc98c4f	Huntington's chorea (@DISEASE$, HD) is a genetic disorder caused by autosomal dominant @PHENOTYPICFEATURE$, leading to progressive neurodegenerative changes in the central nervous system.	has_symptom
+7f166323b550fa1ce6a13d18e4721aea46b119cd	@DISEASE$ with late-onset @PHENOTYPICFEATURE$: MRI and ophthalmological features.	has_symptom
+9f0c046243624fe7088880ea55bfd1e625a59d53	Active measurements to manage blood @DISEASE$ disorder and @PHENOTYPICFEATURE$ could help to ensure the safety of the operation.	has_symptom
+5067c1565acc07c6ab3969a6f284dc3c82a7efb4	In particularly, a synergistic cooperation of regular exercise and resveratrol was observed in @PHENOTYPICFEATURE$ activity, mortality and oxidative stress especially in @DISEASE$ activity.	has_symptom
+744c3fdf30be6300e901a1db980f19fc692f2d60	Hypertonic sodium bicarbonate may interact with DPH neuronal @DISEASE$ channels and may be considered adjuvant therapy in humans with DPH-induced @PHENOTYPICFEATURE$.	has_symptom
+e5078fe406ffaad5dee556c0e14f1ca4993a16bc	This finding is compatible with the fact that few patients with @DISEASE$ have @PHENOTYPICFEATURE$.	has_symptom
+951c085a72cad3caf6f14f457db92088c83509d5	Treatment with LFs after @PHENOTYPICFEATURE$ decreased KA-induced @DISEASE$ activity and MDA content at 7 and 28 d.	has_symptom
+c94cb7e79fcccfb7b48e8cf91ae4d9491f108bcf	Treatment with LFs before KA injection reversed the @PHENOTYPICFEATURE$-induced change in @DISEASE$ activity and MDA content at 1 h, 6 h, 3 d, 7 d, and 28 d.	has_symptom
+e61fed9d762e87f3c7fcaa58fcd15a399c690129	@PHENOTYPICFEATURE$ are more frequently observed in patients with @DISEASE$ disorders (especially hyponatremia), hypocalcemia, and hypomagnesemia.	has_symptom
+66bc593ce1453692e052db38b8e2d5aab309607a	Adverse events, which included mostly @PHENOTYPICFEATURE$, @DISEASE$ disorders, and gastrointestinal symptoms, were reported in 16 patients; none required interruption of treatment.	has_symptom
+d40620b3d202aaec9ebb6bf4edd957d77f36b828	@PHENOTYPICFEATURE$ were observed only in Group 3. Increased MDA levels and decreased @DISEASE$ activity were observed in Group 3 (ANOVA, p-value is less than 0.001).	has_symptom
+8863674c216ac6851321002cae4229b2beba68dc	@DISEASE$ is a multisystemic inflammatory disease characterized with recurrent @PHENOTYPICFEATURE$, genital ulcer, and multiple organ involvement.	has_symptom
+b6b1b7d784d7d63e3f63ca618b7b09c02688bbbe	Behcets disease is a multisystemic inflammatory disease characterized with recurrent @DISEASE$, @PHENOTYPICFEATURE$, and multiple organ involvement.	false
+24a293a3d7b38f68291c6943d44c34655e91bbb7	Behcets disease is a multisystemic @DISEASE$ characterized with recurrent oral ulcer, @PHENOTYPICFEATURE$, and multiple organ involvement.	false
+b57eecbaab822f470fc85bc685d0d607bd48a3ac	@DISEASE$ is a multisystemic inflammatory disease characterized with recurrent oral ulcer, @PHENOTYPICFEATURE$, and multiple organ involvement.	false
+7e6ba1a317b253890247c70708b9261c692467af	Pathology of recurrent oral ulceration and @PHENOTYPICFEATURE$ in @DISEASE$: light, electron and fluorescence microscopy.	has_symptom
+4106c38ffd241fafc472ce931e480201c196ae32	Pathology of recurrent @PHENOTYPICFEATURE$ and oral ulceration in @DISEASE$: light, electron and fluorescence microscopy.	has_symptom
+3d781dc70e49ff929c544dc84e679eb5fecd29a5	Reported neurological features of @DISEASE$ include ischaemic and haemorrhagic stroke, subdural effusion, @PHENOTYPICFEATURE$, neuropathy, transverse myelitis, and optic atrophy.	has_symptom
+4e6ed2ab073cf1761ecde483899efc7c6a2ac98f	Reported neurological features of @DISEASE$ include ischaemic and haemorrhagic stroke, subdural effusion, seizures, neuropathy, transverse myelitis, and @PHENOTYPICFEATURE$.	false
+09d3bb263bf76b61c22b2e5fefe1e94e7d7a9e6e	Reported neurological features of Degos disease include ischaemic and haemorrhagic stroke, subdural effusion, @DISEASE$, neuropathy, transverse myelitis, and @PHENOTYPICFEATURE$.	false
+35b98101d122b13f81c06dbe1fc73f2aaf9d4dc8	Reported neurological features of Degos disease include ischaemic and haemorrhagic stroke, subdural effusion, seizures, @DISEASE$, transverse myelitis, and @PHENOTYPICFEATURE$.	false
+d987ec34b48fb516349325977cbb68ffc7486431	Recently, these antiphospholipid autoantibodies have been associated with neurologic conditions including focal cerebral and ocular ischemia, the myelopathy of lupoid sclerosis and @DISEASE$, Guillain-Barr? syndrome, migraine, chorea, and @PHENOTYPICFEATURE$.	has_symptom
+c09f87ebff3a21d695624c9fe644d975a8ee78cc	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.	has_symptom
+98aa188b3b734a12194dde8dc558df940e34a9fd	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.	false
+47697ca8955b4932a58c3d92aeda73ead7163af6	Alstrom syndrome is an extremely rare, autosomal recessive @DISEASE$ characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.	false
+ccdb6b7107159f60cb52bf4f747ba42caf7de9ca	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @DISEASE$, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.	false
+576f7f925d3b42ba73ac77db886eeac45eafd946	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, @DISEASE$, hepatic and renal dysfunction.	false
+4849c2b43bcc1a803a05e7d4f3330734189e4b8d	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+452de076b022edc5d45383a044caf0a7b4cb2753	Alstrom syndrome is an extremely rare, autosomal recessive @DISEASE$ characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+c258a8af31b3dc01096686b9695d26e651f16d9c	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset @DISEASE$, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.	false
+d4fb93139e37b86d85b3e78785c06747af173148	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, @DISEASE$, hepatic and renal dysfunction.	false
+c500525f8240f2ca7c0fac53f9f185ea1c0ae679	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @DISEASE$, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+c4ae37bbd54665fd1d95f0ca278c6c0bf060094c	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset @DISEASE$, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+b585941f44d545cb6b5b674d1ba9d3177b69c82f	Diagnosis of @DISEASE$ is based on the appearance of growth deficiency, the presence of the three key features of facial dysmorphism (short palpebral fissures, @PHENOTYPICFEATURE$, smooth or flattend philtrum) and/or disorders in the central nervous system (minimum 3) and prenatal exposure to alcohol (confirmed if possible).	has_symptom
+e85a03f820505a633750dacc43dab93b0f8a709c	The restriction endonuclease SmaI has been used for the diagnosis of neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa disease or @DISEASE$, caused by the Mt8993T-->G mutation which results in a Leu156Arg replacement that blocks proton translocation activity of subunit a of F(0)F(1)-ATPase.	has_symptom
+7774b271dd73e654cab2542c6b8eaec752b5f395	The restriction endonuclease SmaI has been used for the diagnosis of neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa disease or Leigh's disease, caused by the Mt8993T-->G mutation which results in a Leu156Arg replacement that blocks proton translocation activity of subunit a of F(0)F(1)-ATPase.	false
+98f5deda96542f956f98f33dc7e3fe78a7efe36e	The restriction endonuclease SmaI has been used for the diagnosis of neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa disease or @DISEASE$, caused by the Mt8993T-->G mutation which results in a Leu156Arg replacement that blocks proton translocation activity of subunit a of F(0)F(1)-ATPase.	false
+6981725d6ca754ccc9cc71ce7c6f1898e2dfc4c5	The restriction endonuclease SmaI has been used for the diagnosis of neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$ disease or Leigh's disease, caused by the Mt8993T-->G mutation which results in a Leu156Arg replacement that blocks proton translocation activity of subunit a of F(0)F(1)-ATPase.	false
+b5a41cab3c9b6de9a46d9c97776fbddfed903ef4	We have applied whole exome sequencing to a patient with congenital lactic acidosis, @PHENOTYPICFEATURE$, profound deficiencies in mitochondrial oxidative phosphorylation associated with loss of mtDNA copy number and MRI abnormalities consistent with @DISEASE$, identifying biallelic variants in the LONP1 (NM_004793.3)	has_symptom
+a8868fc344df268b366f9a7cb27e6d9f39cfdf5b	The clinical phenotype is extremely variable and includes late-onset @DISEASE$ (LS), isolated demyelinating peripheral neuropathy and neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa (NARP).	has_symptom
+1cb3af923b5a916c134b1c22af3545ccfdb71bd6	The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$ (NARP).	false
+9577e49f02dd3b8ccfba612adad1f8bd1ea088d4	The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating @DISEASE$ and neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP).	false
+601e06a97335c53aa10b002d8c6937e00e0b051e	The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP).	false
+b9481b6a82e4f8fbd98bf33c806fe477ba95e34f	The clinical phenotype is extremely variable and includes late-onset @DISEASE$ (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP).	false
+257a2005b6993300c7c5e28e8d9be51ef095b70a	The mtDNA mutation 8993T > G is associated with neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa (NARP) and @DISEASE$.	has_symptom
+baf90d0be7a20b4df47c0633febc45170e42a143	The mtDNA mutation 8993T > G is associated with neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP) and Leigh syndrome.	false
+d10c93f3f281ba92fb862a41481f6a028eaba5b8	The mtDNA mutation 8993T > G is associated with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP) and @DISEASE$.	false
+e760d1fb492919418a5978545224692c74455996	The mtDNA mutation 8993T > G is associated with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$ (NARP) and Leigh syndrome.	false
+38719edb8c22981b2cbf3b750fbee0ee42a7bd2c	Unlike many pathogenic mitochondrial DNA mutations, the T8993G mutation associated with @DISEASE$ (LS) and neurogenic @PHENOTYPICFEATURE$, ataxia, retinitis pigmentosa (NARP) typically shows little variation in mutant load between different tissue types.	has_symptom
+34dd9c6e09da257e1817d85e10966775eaaf6b20	Unlike many pathogenic mitochondrial DNA mutations, the T8993G mutation associated with Leigh syndrome (LS) and neurogenic @DISEASE$, @PHENOTYPICFEATURE$, retinitis pigmentosa (NARP) typically shows little variation in mutant load between different tissue types.	false
+c3354b9237a27826ae90ccba5183effdf0b092ac	Unlike many pathogenic mitochondrial DNA mutations, the T8993G mutation associated with Leigh syndrome (LS) and neurogenic muscle weakness, @PHENOTYPICFEATURE$, @DISEASE$ (NARP) typically shows little variation in mutant load between different tissue types.	false
+ed86f131201e46e429867f9763914e8ac2aff22a	Unlike many pathogenic mitochondrial DNA mutations, the T8993G mutation associated with @DISEASE$ (LS) and neurogenic muscle weakness, @PHENOTYPICFEATURE$, retinitis pigmentosa (NARP) typically shows little variation in mutant load between different tissue types.	false
+b1e7481422663d2b05ed391be475d132bd9f7788	This mutation is associated with neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa (NARP) and the neurodegenerative condition, @DISEASE$.	has_symptom
+08b880d36ff4ea419efd7ec4d6744a027b8f1153	This mutation is associated with neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP) and the neurodegenerative condition, Leigh syndrome.	false
+7784089f40307ac1324808703624058ad2d44e35	This mutation is associated with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa (NARP) and the neurodegenerative condition, @DISEASE$.	false
+a8fcdffd004277630207a113f7013ebf00c9761e	This mutation is associated with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$ (NARP) and the neurodegenerative condition, Leigh syndrome.	false
+9631499a5fbc4a34c2ccd8885fae52f2614d8c7c	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	has_symptom
+307faece92bc9845a5a05eeb7bc75283890965ce	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+7ecdf8cda7dce7ff4e3d52425497c23f014c88bb	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+9e9e40fda96516c881c9a7471b00464d6e6e75e8	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+83db851e268dcfd7be72d3ba7eccb043fff7c728	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+f759deb8d9b248be11c0c87cd37645714d07ffe5	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+316809e6385c49731d288db8dce426fc2de94f1b	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+c3f1da211fa8e059add968df8011e12f572f768d	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+ba4e366f5ed7b7c3e68d0e5354322af48857ffc4	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+0f6a21af977fe696da6a456656bad066b8120e6c	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic @DISEASE$.	false
+e33acfed8c6966b4f30f279c2f2661e0cbc62371	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+83e263a0073750c74b2ddc340cfa0e303d35ba5b	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+31fc084be7fb312729e7bb7e684936c946498117	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+323260759bb18d6ad18e4e4af5a50b5eaaa8bc90	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @DISEASE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+a91df41a5302286d347dc403580bbdf4a0eb55b8	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+af436b31128ba3c78a2859b77f5ed5829b917dc7	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+8e644b18409f545998f4aed51770d8f1c9bc10db	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+4d764075600ff1af6c331d0d0078bff990f9f50e	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+5ec12340ca72bea9b5938509b14a3e4ce18e8f65	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+bcb830f90a6fb673cb87a250733800646e0c1ef6	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+096e8b6028db2db9a00fd4a86853049096e421b7	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+7a857631b774201ffb86215f3f644d3f18b2eb85	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+7248039d258cb6e9ff7475e48d2a4248b61bfb23	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+dc68d09a760f562aa7e10574b0d360cc0b578bfd	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+3bfa392d01b5c6d5b8beba4420d04209b4f7ac1a	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic @DISEASE$.	false
+d290cee8020522cdab65963cea4941b44b51fecb	@DISEASE$ (SD) is a neurodegenerative disorder characterized by the progressive loss of semantic memory and conceptual knowledge, coupled with asymmetric local @PHENOTYPICFEATURE$ concentrated in the anterior temporal lobe.	has_symptom
+819a64bbee5bac02089ce55102fe091b1ae750cb	Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of @PHENOTYPICFEATURE$, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with @DISEASE$ in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), encephalopathy (30%), psychotic symptoms (17%), and thrombotic events (21%).	has_symptom
+c0d8419113e5b91fc995e65f69530508ac1fbb00	Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of seizures, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with @DISEASE$ in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), @PHENOTYPICFEATURE$ (30%), psychotic symptoms (17%), and thrombotic events (21%).	false
+d812e4d2f400ab53e72a75f6b3103baaeed34ac7	Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of @DISEASE$, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with MTHFR deficiency in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), @PHENOTYPICFEATURE$ (30%), psychotic symptoms (17%), and thrombotic events (21%).	false
+c749d4eac396e35b42f6481f81d58cef317e0ce7	We describe the association of severe @DISEASE$ and neurological manifestations with particular attention to neurodevelopment and evolution of @PHENOTYPICFEATURE$.	has_symptom
+d5a64d06e9361b15658e587d88eda5c68edc40a8	@DISEASE$ (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, @PHENOTYPICFEATURE$, and orofacial abnormalities.	has_symptom
+683c5149d6504a1e0d1798e2fc212b7e44cd74ad	Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising @PHENOTYPICFEATURE$, @DISEASE$, and orofacial abnormalities.	false
+4d4726e1573b0286fd5786b0b3f02420b06605a8	@DISEASE$ (Weyers; OMIM 193530) is an allelic dominant disorder comprising @PHENOTYPICFEATURE$, nail dysplasia, and orofacial abnormalities.	false
+10969c6acfae5e4c8b7c2073a2dc206017a30e8f	Extracts from 15 control cell lines were found to have 0.72 +/- 0.24 micrograms cross-reactive material/mg protein, while cell extracts from 8 patients with @DISEASE$ involving @PHENOTYPICFEATURE$ were found to have 1.08 +/- 0.17, which is significantly elevated.	has_symptom
+db7789dc6dd44bd13e7378cd3cbaf2919d2df462	Kidney transplantation was undertaken in a child with dysplastic kidneys, @PHENOTYPICFEATURE$ and bilateral optic atrophy-a combination of features insufficient to define @DISEASE$.	has_symptom
+8ff19adf1a62a724e84c3088e660d773c0be8322	Kidney transplantation was undertaken in a child with dysplastic kidneys, sensorineural hearing impairment and bilateral @PHENOTYPICFEATURE$-a combination of features insufficient to define @DISEASE$.	false
+e9389f2cfa553f9eabfbd8ed15456d247a25dbdf	Kidney transplantation was undertaken in a child with dysplastic kidneys, @DISEASE$ and bilateral @PHENOTYPICFEATURE$-a combination of features insufficient to define Wolfram syndrome.	false
+06a6c5a09b20f1384ba5ef7f07be62f7cc843e84	@DISEASE$ (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and @PHENOTYPICFEATURE$ (SNHL).	has_symptom
+a723159a30b6a01a82c90cd5e51941aeac2e72d1	Wolfram syndrome (@DISEASE$) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and @PHENOTYPICFEATURE$ (SNHL).	has_symptom
+b9e7456d550d4ea18049998159c8c2e2e9bf57ad	Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of @DISEASE$ (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL).	false
+3b6ce438e87ed51e9d73445c7be95e2fa9bd4914	Wolfram syndrome (@DISEASE$) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL).	false
+4b24308c6cc6989e0e932db6b18b2eaee51f3049	Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and @DISEASE$ (SNHL).	false
+c8978697d2fbf966a8dca4c37b043f459dcc3c44	@DISEASE$ (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL).	false
+a88dee55e6ceb9336b901807dcba8cc4fd95a738	Wolfram syndrome (WFS) is a rare @DISEASE$ with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL).	false
+4464bf191181bfa6e9573a1fbda1a5d807f4700f	Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), @DISEASE$ (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL).	false
+f50dddccdc797ccbf0e69286175d9e22bfef8071	We sought to study the audiometric data of genotyped @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+2d650a771a93f5f70c95888ebea0c340f470f16d	@DISEASE$ gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by @PHENOTYPICFEATURE$ equal to and below 2000 Hz.	has_symptom
+28ce6252d09d42bbea2c3aac77c704c57de0bbf6	@DISEASE$ is a rare genetic disorder accompanying diabetes insipidus, @PHENOTYPICFEATURE$, neurological complications, and psychiatric illness.	has_symptom
+2c322244f66d216020a54f9bfb598ea57893bad2	@DISEASE$ (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, @PHENOTYPICFEATURE$ and diabetes insipidus.	has_symptom
+b4bece7b8d776713dbfad64de95a3e5f61beaab9	Wolfram syndrome (@DISEASE$) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, @PHENOTYPICFEATURE$ and diabetes insipidus.	has_symptom
+3b537895129aa8209d06d380da5ad7ce72edddb7	Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive @PHENOTYPICFEATURE$, sensorineural deafness and @DISEASE$.	false
+6ea895c437a404620a585a8b1c19a153a4b86166	Wolfram syndrome (@DISEASE$) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive @PHENOTYPICFEATURE$, sensorineural deafness and diabetes insipidus.	false
+742296a207eb331e78630229a40e99fbe929c922	Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset @DISEASE$, progressive @PHENOTYPICFEATURE$, sensorineural deafness and diabetes insipidus.	false
+62e3c63040ebbc70371cfb4fb37e60e84ccb0bf6	@DISEASE$ (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive @PHENOTYPICFEATURE$, sensorineural deafness and diabetes insipidus.	false
+a5ac524056b11e43495ad8f7162d05a1971f7f1e	Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive @PHENOTYPICFEATURE$, @DISEASE$ and diabetes insipidus.	false
+b10f8e7eca67cf740dc2901ea20b8db86617dc9a	The authors report on one case of @DISEASE$, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, optic atrophy and @PHENOTYPICFEATURE$.	has_symptom
+8d0e02ce6cb6b071e49871b384add0082d09c896	The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset @DISEASE$, diabetes insipidus, @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+f1661115a57a8bb005c41935736343b1d4e44e18	The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+40c18129875ccd40492a4750c2d38a4bf3e2b8aa	The authors report on one case of @DISEASE$, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+affc6fd308b1a6f7b18cd15e886e841d617c7b2e	The authors report on one case of Wolfram syndrome, a rare condition, which is characterized by juvenile onset diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+37741fae9bfa69f49bfcae9eff0eb2dc73a7fb86	The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and @PHENOTYPICFEATURE$ (D) is known as DIDMOAD or @DISEASE$.	has_symptom
+44d0379364b8fa1f9035ca05620b041cfd414553	The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and @PHENOTYPICFEATURE$ (D) is known as @DISEASE$ or Wolfram syndrome.	has_symptom
+e81b857a806f5bdab028f3c5002bcbba138faf17	The association of juvenile diabetes mellitus (DM), @DISEASE$ (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural deafness (D) is known as DIDMOAD or Wolfram syndrome.	false
+6b995529183f4e2d4ffbd453077d6e03d6a53f2e	The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural deafness (D) is known as @DISEASE$ or Wolfram syndrome.	false
+cae391d9f05287d50f92da9541bd553f6af070a8	The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and @DISEASE$ (D) is known as DIDMOAD or Wolfram syndrome.	false
+139035fe4c5ffb5bbe4fc3dc632e408c0789cfba	The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), @PHENOTYPICFEATURE$ (OA) and sensorineural deafness (D) is known as DIDMOAD or @DISEASE$.	false
+c6747fa27588b4e96d2f6bfb670c210e21b2ca23	@DISEASE$, characterised by diabetes insipidus, diabetes mellitus, optic atrophy @PHENOTYPICFEATURE$ and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown.	has_symptom
+7eeb994c797254df9135990c1353791dd2c8184b	Wolfram syndrome, characterised by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ @DISEASE$ and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown.	false
+924c8a004a1c5b8f46985a066eea4da4406dca2b	Wolfram syndrome, characterised by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative @DISEASE$, the pathogenesis of which is unknown.	false
+a0c8630946d831850b0d51bcf7578dab03c2a1f8	Wolfram syndrome, characterised by @DISEASE$, diabetes mellitus, @PHENOTYPICFEATURE$ sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown.	false
+6aa3bf6f9a43c4dea91dea913ebe9b75040c0d18	@DISEASE$, characterised by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown.	false
+d72499c2381431404bc87595dae3618fd3a28e3b	Wolfram syndrome, characterised by diabetes insipidus, @DISEASE$, @PHENOTYPICFEATURE$ sensorineural deafness and acquired urinary tract abnormalities, is an hereditary neurodegenerative syndrome, the pathogenesis of which is unknown.	false
+5bb09be90a31cff5dc7bccd96b2e6cdb0dc76a49	@DISEASE$ (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and @PHENOTYPICFEATURE$.	has_symptom
+a8026841ed2e56e28dbd104ac31909fd827f9f6c	Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, @PHENOTYPICFEATURE$, cranial diabetes insipidus and @DISEASE$.	false
+a1e71af5b71ec60b85dd98f630b2c1d78b17f841	Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, @PHENOTYPICFEATURE$, cranial @DISEASE$ and sensorineural deafness.	false
+aa954e7511dd2c537af64585699ea65cfbb4d63d	@DISEASE$ (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, @PHENOTYPICFEATURE$, cranial diabetes insipidus and sensorineural deafness.	false
+5bb53f0cac5f65b32a0d02ff65a798bd5a181406	Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune @DISEASE$, @PHENOTYPICFEATURE$, cranial diabetes insipidus and sensorineural deafness.	false
+99c663e6b814142ae8d0064370b8866df8a2e161	@PHENOTYPICFEATURE$ dysplasia (@DISEASE$) is a congenital short-limb skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	has_symptom
+7db1ff6e612927f221c5ac6fa8cabaa1b3d1b1c6	@DISEASE$ dysplasia (CMD) is a congenital short-limb @PHENOTYPICFEATURE$ characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+0a793e3c7c5e2b88d9f551264dd277564d198215	Camptomelic dysplasia (@DISEASE$) is a congenital @PHENOTYPICFEATURE$ skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+9559ea2e55c99422bb80cd9fd684736049b264e9	@DISEASE$ dysplasia (CMD) is a congenital @PHENOTYPICFEATURE$ skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+bdcdf9634b78f93a2605422e20dd83da5f952fb3	Camptomelic dysplasia (@DISEASE$) is a congenital short-limb @PHENOTYPICFEATURE$ characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+59b6bd926717da282d6688f55575233cba435216	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	has_symptom
+409ca7b2932b7c0005a247430dc73beb21f114c2	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+89d37416cd59330c45b3bbbc5d1bd14f5c0d9435	Mental retardation, short stature, microcephaly, @DISEASE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+a778ff6005b1438474600479190466e3d26e44f0	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+b9b1b8ff5da89e141697c14488b3fd2c8e35fb92	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+0b507f7f2e6318ac98c5a2d71d03e75c4e84c2c4	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+84fa13d9932f189458c6349bbfad88b018f41472	@PHENOTYPICFEATURE$, short stature, microcephaly, @DISEASE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+7c21087933d9b61812e225c02fbfdfa8c50f8099	Mental retardation, short stature, microcephaly, @DISEASE$, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+882675763d7ece8d1d22c2c59e8cc9fbd9356b3d	Mental retardation, short stature, @PHENOTYPICFEATURE$, @DISEASE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+8ec5fc64f3a6741f61b65c154c59d23b42d981db	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+abc1a6557ff44c3429b70ebbd6a85c958c9958a2	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+2976fc8cbb629069add8f26191bb89ea817da6ef	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, @PHENOTYPICFEATURE$, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, hypoplastic male external genitalia.	has_symptom
+d46af683e4c49201dc2da3b68e497a55690299b7	The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, @DISEASE$, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with @PHENOTYPICFEATURE$, hypoplastic male external genitalia.	false
+5b33b8d2ad0de489d5e54f5f54970721bda6f675	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with @PHENOTYPICFEATURE$, hypoplastic male external genitalia.	false
+8635ea6dff1236ce7a059e84e793938c7dc5723b	The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, @DISEASE$, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, @PHENOTYPICFEATURE$.	false
+b5192586ccea059b5443f9ea1b0aa720dc2c04b5	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, @PHENOTYPICFEATURE$ of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, hypoplastic male external genitalia.	false
+30f0fc08846f95dbf9b8b6bed711411e70df9d72	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, @PHENOTYPICFEATURE$.	false
+a9b1477c24191bd9b2bc62e7702c6a7000302c37	The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, @DISEASE$, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, @PHENOTYPICFEATURE$ of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, hypoplastic male external genitalia.	false
+5e7bd5cb9ec8cb759f346c508b9af23442311a6d	His physical examination is remarkable for only a few dysmorphic findings typically seen in @DISEASE$ (round face, @PHENOTYPICFEATURE$, down-slanted palpebral fissures, temporal narrowing, small hands and feet).	has_symptom
+3a7ecd8a133faf0a4d5576f5ad9e9061bd874cec	Acute postnatal @PHENOTYPICFEATURE$ formation in @DISEASE$.	has_symptom
+302fe30d3ff6372ccd9238d86224f6c8c821469d	A 3-month-old infant girl had manifestations of the @DISEASE$ (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, @PHENOTYPICFEATURE$, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	has_symptom
+9dded0fd3e55d34d2ced2107382207748f816722	A 3-month-old infant girl had manifestations of the @DISEASE$ (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, @PHENOTYPICFEATURE$, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+c02fb7ccbdaf13d2f8796847a19d975a39596b3b	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, @PHENOTYPICFEATURE$, anteverted nares, cleft of the posterior @DISEASE$, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+a45e9fcbf4378ffb850a06a0e32213b293781946	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, @DISEASE$, @PHENOTYPICFEATURE$, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+11924a2ca3d21c4058e865534c35ff75f61d0a65	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent @DISEASE$, cataracts, @PHENOTYPICFEATURE$, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	has_symptom
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	has_symptom
+5daa03db960a15a5ecafa6a432735008fefdd572	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1524a17790cfda5defb4618bfa5098d9b25675ae	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+4510ac59597f5523250429c713aefded09247406	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+523fdc45c7801dbd04e343473e32bd4af7f52f0c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e15a09993e79b694de2c5f76267b89bfe36fca08	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+067d83acedb309fd61064770abf7db4a917313e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+71476b525a9a0b7832e30f44f04b67821f3d12a4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+312e821121bb15d7c50b1574deeb5b936c932045	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+1a059dc6b367b4db9018e75ed6386b7fb97803e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+b941a4707a39047cc049bc4f9507e20162c96269	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+3252e5b77401d7c73e97fb8681166d3c8e8968da	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+a49cccf72ed22ad18db25be58f049063683b83bc	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+67dd052b36c78a397c8a82d49e0ffc7395fd5e6b	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+bcaba964b378238bab32a5704d35e5141d8596b9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d4addaf946983c99020bdc22a80aff4b30c34cef	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+50534e0d73e98d4b479d42873cfb589e342cca41	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+70342dc3863c5211377325dad7fc93396bf4a0b6	We report on two patients with severe @DISEASE$ who acutely developed postnatal @PHENOTYPICFEATURE$.	has_symptom
+451f3e427e47b852759e33e6fd0aa9d64afb42ba	It is concluded that in about one tenth of the children with @DISEASE$ a substantial @PHENOTYPICFEATURE$ persists.	has_symptom
+0fd4190db4456ad58c3d72b35d8b7c79cd72cb1e	Investigations revealed @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+b11f20f3016d62b28736156a79afe3d2513a01fa	We report a family, the proband of which was thought to @PHENOTYPICFEATURE$ secondary to @DISEASE$.	has_symptom
+bf33aa04e5b78e21ca808a04542ee730f11551ea	Antenatal and neonatal screening is generally limited to a few pilot experiments such as screening for @DISEASE$ and phenylketonuria and @PHENOTYPICFEATURE$.	has_symptom
+b895d628dd010ac84ee7f1a61a01921e512d4890	We suggest that presynaptic dysfunction of IHCs is a mechanism in @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+8dd4b93973a83922332940c7e0c3a776ee9aff82	Whereas the hallmark of PS is sensorineural deafness, other forms of @DISEASE$ may also lead to @PHENOTYPICFEATURE$.	has_symptom
+ce6e9a088ab0e4361c5bb19c200bd32421fb1373	Whereas the hallmark of PS is @PHENOTYPICFEATURE$, other forms of @DISEASE$ may also lead to hearing impairment.	false
+36f40900d7e28dd858bc521ea124df7f88ff8910	Whereas the hallmark of PS is @PHENOTYPICFEATURE$, other forms of congenital hypothyroidism may also lead to @DISEASE$.	false
+f538f7c679608da6a300d53eb78a61fc2885e862	Long-term sequelae of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2d7d21a20e546e7ff656ea75b9660447a66d3e87	Factors associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$ treated since the neonatal period: a national population-based study.	has_symptom
+ec71b809eedff75a83672085ec16525e87a7cf86	The exact incidence of @PHENOTYPICFEATURE$ in untreated @DISEASE$ (CH) patients is unknown.	has_symptom
+f04929db40cc2a37f202de8f7976eccec07edbfe	The incidence of congenital @PHENOTYPICFEATURE$ is 1-2/1,000--higher than for @DISEASE$ and phenylketonuria combined.	has_symptom
+61bcda300301ca8256856402680b720b6cb68578	TMAs encompass thrombotic thrombocytopenic purpura (TTP), typically characterized by @PHENOTYPICFEATURE$, central nervous system manifestations and @DISEASE$ (HUS), in which renal failure is the prominent abnormality.	has_symptom
+d04b066b725bb557fc4a2880a7e2a402148292a5	TMAs encompass thrombotic thrombocytopenic purpura (TTP), typically characterized by @PHENOTYPICFEATURE$, central nervous system manifestations and hemolytic uremic syndrome (@DISEASE$), in which renal failure is the prominent abnormality.	has_symptom
+386f7fc695aeb9bd017d8a83c461e839fda5db4f	TMAs encompass thrombotic thrombocytopenic purpura (TTP), typically characterized by fever, central nervous system manifestations and hemolytic uremic syndrome (@DISEASE$), in which @PHENOTYPICFEATURE$ is the prominent abnormality.	false
+48a968dd9589d9380d9ed459c1967242486f3d85	TMAs encompass thrombotic thrombocytopenic purpura (TTP), typically characterized by @DISEASE$, central nervous system manifestations and hemolytic uremic syndrome (HUS), in which @PHENOTYPICFEATURE$ is the prominent abnormality.	false
+b6a16d538c9160100e4a24324dd3e2758fbf606d	TMAs encompass thrombotic thrombocytopenic purpura (TTP), typically characterized by fever, central nervous system manifestations and @DISEASE$ (HUS), in which @PHENOTYPICFEATURE$ is the prominent abnormality.	false
+dd89b117fa77dc633310ebee858c43aa55d5de23	We report the case of a 19-month-old male child with diarrhea-associated @DISEASE$ (HUS) who developed swelling of the right arm at the site of a peripherally inserted central venous catheter (PICC), @PHENOTYPICFEATURE$, and later, ecchymosis.	has_symptom
+8463640a0ead2afbe50ca7a4faf1d011038f077d	We report the case of a 19-month-old male child with diarrhea-associated hemolytic uremic syndrome (@DISEASE$) who developed swelling of the right arm at the site of a peripherally inserted central venous catheter (PICC), @PHENOTYPICFEATURE$, and later, ecchymosis.	has_symptom
+d5e7fef09dce0337317cc396ef13112731833925	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @PHENOTYPICFEATURE$, renal failure, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and @DISEASE$.	has_symptom
+0ff430e6be0875bc7f53f2f273afe0353132d020	Microangiopathic hemolytic anemia (MAHA), @DISEASE$, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+f4727be25d8d809d0972f403441e5f645a13c151	Microangiopathic @DISEASE$ (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+5f43e439ce1e77c57e680f3585f0844f67d1a015	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @DISEASE$, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+22a60d471d29d8e977e2b265519b0af2d4c3355f	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of @DISEASE$ and hemolytic uremic syndrome.	false
+bee74ee70b1efb473d128d089253a77dca957dc6	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and @DISEASE$.	false
+ba7f4e9a090d9ed5ba48a8cd8e7b512ba3fc63ad	Children with @DISEASE$ generally present with gastroenteritis complaints (e.g., abdominal pain or tenderness, nausea or vomiting, @PHENOTYPICFEATURE$, anemia); affected adults may be asymptomatic.	has_symptom
+e0fb4eb76ade0d1a62aa1c90bb70a1fe0bd87077	Children with hemolytic uremic syndrome generally present with gastroenteritis complaints (e.g., abdominal pain or tenderness, nausea or @PHENOTYPICFEATURE$, fever, @DISEASE$); affected adults may be asymptomatic.	false
+43e8dfe03506899bdb4864a5d370760bfb5ee94b	Children with hemolytic uremic syndrome generally present with @DISEASE$ complaints (e.g., @PHENOTYPICFEATURE$ or tenderness, nausea or vomiting, fever, anemia); affected adults may be asymptomatic.	false
+012e9217db71b3e07272ea52a87b6c6fcccdd655	Children with @DISEASE$ generally present with gastroenteritis complaints (e.g., @PHENOTYPICFEATURE$ or tenderness, nausea or vomiting, fever, anemia); affected adults may be asymptomatic.	false
+3c37bfdd739779a6815d035f75f2bed4cf42fc2b	Children with hemolytic uremic syndrome generally present with gastroenteritis complaints (e.g., @PHENOTYPICFEATURE$ or tenderness, nausea or vomiting, @DISEASE$, anemia); affected adults may be asymptomatic.	false
+8cb1bf00ac75014e917cdc2a97c566ae29dbdebe	Children with hemolytic uremic syndrome generally present with gastroenteritis complaints (e.g., @PHENOTYPICFEATURE$ or tenderness, nausea or vomiting, fever, @DISEASE$); affected adults may be asymptomatic.	false
+797d506c6bec459b8362d142f030bbf54a394f99	Children with hemolytic uremic syndrome generally present with gastroenteritis complaints (e.g., abdominal pain or tenderness, nausea or @PHENOTYPICFEATURE$, @DISEASE$, anemia); affected adults may be asymptomatic.	false
+41e8b6ed015bdf07280bc969356ad593d0cecc8c	Children with @DISEASE$ generally present with gastroenteritis complaints (e.g., abdominal pain or tenderness, nausea or @PHENOTYPICFEATURE$, fever, anemia); affected adults may be asymptomatic.	false
+31804d7574a11714c745d3131c9ee17a2539ee20	Children with hemolytic uremic syndrome generally present with @DISEASE$ complaints (e.g., abdominal pain or tenderness, nausea or @PHENOTYPICFEATURE$, fever, anemia); affected adults may be asymptomatic.	false
+7e0928f33c020ee3b00145f190fb0383416b6c1e	Thrombotic thrombocytopenic purpura (TTP)/@DISEASE$ (HUS) is characterized with @PHENOTYPICFEATURE$, purpura, anemia due to microangiopathic hemolysis, thrombocytopenia, kidney damage, and neurologic symptoms.	has_symptom
+62eb8d2ae0054ebd886864363608dfae9c3b0b9e	Thrombotic thrombocytopenic purpura (TTP)/hemolytic uremic syndrome (@DISEASE$) is characterized with @PHENOTYPICFEATURE$, purpura, anemia due to microangiopathic hemolysis, thrombocytopenia, kidney damage, and neurologic symptoms.	has_symptom
+6e4215963bf77c29317196969f9d02f1968e1dc4	Thrombotic thrombocytopenic purpura-@DISEASE$ (TTP-HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, @PHENOTYPICFEATURE$, central nervous system abnormalities, and renal dysfunction.	has_symptom
+3c3d21e600c6c631d3bb5e9af1b898480f2d8711	The microangiopathic thrombotic syndromes--thrombotic thrombocytopenic purpura (TTP) and @DISEASE$ (HUS)--are characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal dysfunction, @PHENOTYPICFEATURE$ and central nervous system abnormalities.	has_symptom
+fe91ae578f2de42e2cb259eb5a72e92fcc504943	The microangiopathic thrombotic syndromes--thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (@DISEASE$)--are characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal dysfunction, @PHENOTYPICFEATURE$ and central nervous system abnormalities.	has_symptom
+1edb697c92c61b4a666d4ce73660cec8554c13d9	Thrombotic thrombocytopenic purpura (TTP)/@DISEASE$ (HUS) is a syndrome characterized by thrombocytopenia, microangiopathic hemolytic anemia, @PHENOTYPICFEATURE$, renal failure and neurologic manifestation.	has_symptom
+c058dda72a61d8f33bf33941fd4013be1b4b55c9	Thrombotic thrombocytopenic purpura (TTP)/Hemolytic-uremic syndrome (@DISEASE$) is a syndrome characterized by thrombocytopenia, microangiopathic hemolytic anemia, @PHENOTYPICFEATURE$, renal failure and neurologic manifestation.	has_symptom
+c6e9d96e24126e17d05a583b54ddf5f303883e88	Thrombotic thrombocytopenic purpura (TTP)/Hemolytic-uremic syndrome (HUS) is a syndrome characterized by thrombocytopenia, microangiopathic @DISEASE$, fever, @PHENOTYPICFEATURE$ and neurologic manifestation.	false
+d0be77c7b5908f46b238ab359397889367ea9949	Thrombotic thrombocytopenic purpura (TTP)/@DISEASE$ (HUS) is a syndrome characterized by thrombocytopenia, microangiopathic hemolytic anemia, fever, @PHENOTYPICFEATURE$ and neurologic manifestation.	false
+dccee3380bbbcda567921063928c7b1fc347215c	Thrombotic thrombocytopenic purpura (TTP)/Hemolytic-uremic syndrome (HUS) is a syndrome characterized by thrombocytopenia, microangiopathic hemolytic anemia, @DISEASE$, @PHENOTYPICFEATURE$ and neurologic manifestation.	false
+63952cbe911a902b661811a2724f65b634acb968	Thrombotic thrombocytopenic purpura (TTP)/Hemolytic-uremic syndrome (HUS) is a syndrome characterized by @DISEASE$, microangiopathic hemolytic anemia, fever, @PHENOTYPICFEATURE$ and neurologic manifestation.	false
+7961e3fb1ab35aed12655d4adf24f53292c85308	Thrombotic thrombocytopenic purpura (TTP)/Hemolytic-uremic syndrome (@DISEASE$) is a syndrome characterized by thrombocytopenia, microangiopathic hemolytic anemia, fever, @PHENOTYPICFEATURE$ and neurologic manifestation.	false
+ce1b34702fdd15317f37977ab68bc2eb8c52ea05	Thrombotic thrombocytopenic purpura (TTP) and haemolytic uraemic syndrome (@DISEASE$) are today often regarded as variants of one syndrome denoted as TTP/HUS, characterized by thrombocytopenia caused by intravascular platelet clumping, microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal abnormalities and neurological disturbances.	has_symptom
+42c3443270956bc17185f5f51611f878e1069b5f	Thrombotic thrombocytopenic purpura (TTP) and haemolytic uraemic syndrome (HUS) are today often regarded as variants of one syndrome denoted as TTP/@DISEASE$, characterized by thrombocytopenia caused by intravascular platelet clumping, microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal abnormalities and neurological disturbances.	has_symptom
+827d5c221e6e6a704f5632d195cd95db26d6e37b	Thrombotic thrombocytopenic purpura (TTP) and @DISEASE$ (HUS) are today often regarded as variants of one syndrome denoted as TTP/HUS, characterized by thrombocytopenia caused by intravascular platelet clumping, microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal abnormalities and neurological disturbances.	has_symptom
+91cfe2f79c62bcc26df9c60d34eaa6fb13e9219d	Thrombotic thrombocytopenic purpura (TTP), which is typically characterized by @PHENOTYPICFEATURE$ and central nervous system manifestations and hemolytic uremic syndrome (@DISEASE$), in which renal failure is a prominent feature are the most common thrombotic microangiopathies (TMAs).	has_symptom
+4162908c35063c0188fda9b12401a70f7865b16c	Thrombotic thrombocytopenic purpura (TTP), which is typically characterized by @PHENOTYPICFEATURE$ and central nervous system manifestations and @DISEASE$ (HUS), in which renal failure is a prominent feature are the most common thrombotic microangiopathies (TMAs).	has_symptom
+b191d3ca1f62f1ed8fca5cb6e13ad491500e3d47	Thrombotic thrombocytopenic purpura (TTP), which is typically characterized by @DISEASE$ and central nervous system manifestations and hemolytic uremic syndrome (HUS), in which @PHENOTYPICFEATURE$ is a prominent feature are the most common thrombotic microangiopathies (TMAs).	false
+3e478cfe803dbfd24015ea6755d1c9b03751899d	Thrombotic thrombocytopenic purpura (TTP), which is typically characterized by fever and central nervous system manifestations and hemolytic uremic syndrome (@DISEASE$), in which @PHENOTYPICFEATURE$ is a prominent feature are the most common thrombotic microangiopathies (TMAs).	false
+2eae4dc9ef75bc534337e05e59e00afc11cd6781	Thrombotic thrombocytopenic purpura (TTP), which is typically characterized by fever and central nervous system manifestations and @DISEASE$ (HUS), in which @PHENOTYPICFEATURE$ is a prominent feature are the most common thrombotic microangiopathies (TMAs).	false
+dcd176f7b223a33adf164c22992fa581a7e6591c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	has_symptom
+b082597df1186cbb73c989300c4a88ae385aea0d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (@DISEASE$, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+50dab4777eda660c2973fc6c66f89c57144a80d5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+fd85ad08a307461ac42875e4b8cad7a63fa60319	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eec99ff4088dcb824b2b4c3cc707272291ad8d2f	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (@DISEASE$, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+217be1275c984620d9d247d51b7f4ba7b4e997de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset @DISEASE$ 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+23fe04a7f87af4fc9dcc2e91fc81a676f0fb2ed4	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, @DISEASE$, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0323cd6355fbb6ae31c37a85942e9f19699ef52c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+f0bb350572273c6ac5c988e3f30cfde093154e79	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal @DISEASE$, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+2e62987e29e43aa33ac8929001d43020ae232192	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (@DISEASE$ susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0cb020dc64913eba5b5770ddd6b9bc89e779580d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+d97c06982d8b1bf04e85c359b9989dbf238fd512	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+6959a9a765c141f863fddb73ea2e1a64a5a942b7	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, @DISEASE$ of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+6fb176b0f4309b43cbd0f01740715b8f30a0968d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB @DISEASE$ (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+9e4fa23e326d70b7eba1bd672c2087f1e395a75e	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+dd0865bec5fa6427371c614585df228799ff1334	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @DISEASE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+5cce6c802e1551cb151e4dd753dc6e944f3c2e50	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), @DISEASE$ (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+30385319ab3335aabac40269381d3aefbc60994d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, @DISEASE$-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+71963d587fdc51e683fa77dea12018232c1a0b33	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+bcd6c1a6e270fbb28b4abc2ad10ba9d31deac5de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+390ab6e03631a93dcb92534a8e617e3bfdba905c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+36f8ae66df1bee6d8eeffcc92b1287eb7be5bc46	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+57d98d51e6da838dc17a03f9acb36c92417f369c	@DISEASE$ (MPS III) is characterized by progressive neurological deterioration, @PHENOTYPICFEATURE$, a relatively mild somatic phenotype, and early mortality.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2e6a0d5ad89db294379ea0a5fc1bebda7eb8e648	@DISEASE$ (SSc) is characterized by a wide variety of symptoms and disease manifestations including @PHENOTYPICFEATURE$, gastrointestinal dysfunction, interstitial lung disease, and cardiomyopathy.	has_symptom
+06a3891b40cd553e08f4c12c0465f07b0dfca6b6	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	has_symptom
+0dc0c807300a6472511b0bced96cd953dde68023	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/arthralgia and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+de77f538fcbd36e834c8561fd579587f09d4bf58	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/arthralgia and anti-RNP antibodies with @DISEASE$ (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+71f6020e49dd155acc22711045d63d29547cc837	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/@DISEASE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+4ba368a5bc4d2e561b5d767c38bd7a18a8ccb2c4	Magnetic resonance imaging versus musculoskeletal ultrasonography in detecting inflammatory arthropathy in @DISEASE$ patients with hand @PHENOTYPICFEATURE$.	has_symptom
+78f9db9d76b1d10e00d5e632f055a16c73215da8	Rather than a genuine hypertensive disease, preeclampsia is mainly a systemic endothelial disease causing activation of platelets and diffuse ischemic disorders whose most obvious clinical manifestations involve the kidney (hence the proteinuria, @PHENOTYPICFEATURE$ and hyperuricemia), the liver (hence the hemolytic elevated liver enzymes and low platelets, or @DISEASE$), and the brain (hence eclamptic convulsions).	has_symptom
+dd2c1d67ae0b68484e23ec609b527f51af0213ed	Rather than a genuine hypertensive disease, preeclampsia is mainly a systemic endothelial disease causing activation of platelets and diffuse ischemic disorders whose most obvious clinical manifestations involve the kidney (hence the proteinuria, @DISEASE$ and @PHENOTYPICFEATURE$), the liver (hence the hemolytic elevated liver enzymes and low platelets, or HELLP syndrome), and the brain (hence eclamptic convulsions).	false
+67474407321486c43968cbf52fa7ad8b4b354261	Rather than a genuine hypertensive disease, preeclampsia is mainly a systemic endothelial disease causing activation of platelets and diffuse ischemic disorders whose most obvious clinical manifestations involve the kidney (hence the proteinuria, edema and @PHENOTYPICFEATURE$), the liver (hence the hemolytic elevated liver enzymes and low platelets, or @DISEASE$), and the brain (hence eclamptic convulsions).	false
+6b4b9b2cdb2c070df524352af13364fc169546a7	Rather than a genuine hypertensive disease, preeclampsia is mainly a systemic endothelial disease causing activation of platelets and diffuse ischemic disorders whose most obvious clinical manifestations involve the kidney (hence the @DISEASE$, edema and @PHENOTYPICFEATURE$), the liver (hence the hemolytic elevated liver enzymes and low platelets, or HELLP syndrome), and the brain (hence eclamptic convulsions).	false
+ee1c2e9d7d216583381232adf7e48d2ea466c5a5	We here report the case of a 21-year-old Somali woman, who was delivered by emergency caesarean section at 35?weeks of gestational age with acute dyspnea, placental abruption and gross @PHENOTYPICFEATURE$ due to severe preeclampsia/@DISEASE$.	has_symptom
+c7bb7ee043c4dfd579934537d64c32f32a2321f9	Comparison between the various types of edema, differences were statistically significant in serum albumin levels and peak value of proteinuria and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P < 0.05).Occurrence of placental abruption, heart failure and @DISEASE$ had statistical significance in different types of @PHENOTYPICFEATURE$(P < 0.05).	has_symptom
+0ca4ed065893927e7e3a6615fee5081a708285b7	Comparison between the various types of @PHENOTYPICFEATURE$, differences were statistically significant in serum albumin levels and peak value of proteinuria and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P < 0.05).Occurrence of placental abruption, heart failure and @DISEASE$ had statistical significance in different types of edema(P < 0.05).	has_symptom
+17292841fed165223666a5c9605604aa123bf5c1	Comparison between the various types of edema, differences were statistically significant in serum albumin levels and peak value of proteinuria and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P < 0.05).Occurrence of placental abruption, @PHENOTYPICFEATURE$ and @DISEASE$ had statistical significance in different types of edema(P < 0.05).	false
+4b2d3bdf3abe058ab71e6b997f39f6b0a720e2f2	Comparison between the various types of edema, differences were statistically significant in serum albumin levels and peak value of proteinuria and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P < 0.05).Occurrence of placental abruption, @PHENOTYPICFEATURE$ and HELLP syndrome had statistical significance in different types of @DISEASE$(P < 0.05).	false
+e8ac1c34e8fae7769f8a4717606f66e370d7b62e	Comparison between the various types of edema, differences were statistically significant in serum albumin levels and peak value of @DISEASE$ and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P < 0.05).Occurrence of placental abruption, @PHENOTYPICFEATURE$ and HELLP syndrome had statistical significance in different types of edema(P < 0.05).	false
+595048021f91d679811aace5b3b71069eb82b710	Comparison between the various types of @DISEASE$, differences were statistically significant in serum albumin levels and peak value of proteinuria and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P < 0.05).Occurrence of placental abruption, @PHENOTYPICFEATURE$ and HELLP syndrome had statistical significance in different types of edema(P < 0.05).	false
+7c2ca4607ae99e137c6d3dc17c13e5a656da0c8d	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, vomiting, epigastric pain, @PHENOTYPICFEATURE$, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	has_symptom
+3b474c4876f6003e69df53387cf42cb79d88e8bd	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, edema, @DISEASE$, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+73d3891c18eee77d3abb56b9d98cfcbbccb74c1e	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, edema, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+921e3be1581525c6739351fd5fdff2c7f1fe66d2	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, @PHENOTYPICFEATURE$, epigastric pain, @DISEASE$, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+8d0b33054305d838eedaa351a4e302ba52f45343	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, @PHENOTYPICFEATURE$, epigastric pain, edema, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+115c72038b164a386e47e8b3e0edafdd8e9c126f	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, @DISEASE$, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+b43d206eaaf524ef819e09e27fbf309d72b52081	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, tinnitus, phosphen, nausea, @PHENOTYPICFEATURE$, epigastric pain, edema, @DISEASE$, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+01046ea82fbd0b98c8a810cbe073451fe72218ed	It is hypothesized that in some women an excessively high intra-abdominal pressure (IAP) compresses the inferior vena cava, uterine veins, portal vein, hepatic veins, splenic vein and renal veins which lead to a decreased flow in these vascular beds, producing lower extremity @PHENOTYPICFEATURE$, fetal-placental ischemia, a glomerulopathy with proteinuria and hypertension, hepatic ischemia and thrombocytopenia, increased uric acid, and hemolysis/elevated liver enzymes/low platelet known as the @DISEASE$.	has_symptom
+dea8a4cf778132025ab1e1b2916cffb5573ea7b6	We conclude that it is no longer sufficient to emphasize @PHENOTYPICFEATURE$, proteinuria and hypertension, but that the signs and symptoms of the @DISEASE$ present a new and increasingly important challenge in obstetric practice.	has_symptom
+bd22f139798e73f29cbb1c952975a6f582eec661	Reduced ventral cingulum integrity and increased behavioral problems in children with @DISEASE$ and mild to moderate or no @PHENOTYPICFEATURE$.	has_symptom
+e1bc174e94d0123d586cd697d53ec076954b46c6	To assess the prevalence of behavioral problems in children with @DISEASE$, mild to moderate or no @PHENOTYPICFEATURE$, and no developmental delay.	has_symptom
+e9585cf0e4efbb6b78efe1ae88f5049ee6bcc520	@DISEASE$ and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, cataract, intellectual deficiency, @PHENOTYPICFEATURE$, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	has_symptom
+d7e3327f30ab5b3cf6720a768269f1ffde188d52	@DISEASE$ and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	false
+a63b3bb8fe8dbd8e17da00ab169721fb0226244b	Warburg Micro syndrome 2 and @DISEASE$ are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual deficiency, contractures, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	false
+d69595202d9468410b9873aee5111a199d7762af	Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions characterized by variable clinical signs counting postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual deficiency, @DISEASE$, and central nervous system abnormalities due to RAB3GAP2 gene mutations.	false
+9dcb2bb11b53f7a37a61966f1317a2c6ac19633c	Affected patients typically experience some combination of fatigue, myalgia, @PHENOTYPICFEATURE$, @DISEASE$ (dry eyes and mouth), synovitis, rash, alopecia, muscular weakness or lymphadenopathy, and autoantibody formation.	has_symptom
+dba3b92d37fda9b1170d1b32a853cbc1c8731dc5	Affected patients typically experience some combination of fatigue, myalgia, joint pain, @DISEASE$ (dry eyes and mouth), synovitis, rash, alopecia, @PHENOTYPICFEATURE$ or lymphadenopathy, and autoantibody formation.	false
+ad06ee66c08a2a0259dcf55ad7b8bcaf6c478d3e	Affected patients typically experience some combination of fatigue, myalgia, joint pain, sicca syndrome (dry eyes and mouth), @DISEASE$, rash, alopecia, @PHENOTYPICFEATURE$ or lymphadenopathy, and autoantibody formation.	false
+09aa85109d75c51083524a58a8399b0c25c2bd88	Affected patients typically experience some combination of fatigue, myalgia, @DISEASE$, sicca syndrome (dry eyes and mouth), synovitis, rash, alopecia, @PHENOTYPICFEATURE$ or lymphadenopathy, and autoantibody formation.	false
+6c4824d3e0050e944a54ea77d495ff204dc1104e	The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, cardiac arrhythmias, neurological diseases like epilepsy or @PHENOTYPICFEATURE$ and even 'developmental' defects such as @DISEASE$.	has_symptom
+a123329cb1b2017adfb5ec166767fdd7c111bb39	The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, @PHENOTYPICFEATURE$, neurological diseases like epilepsy or @DISEASE$ and even 'developmental' defects such as osteopetrosis.	false
+9af7845b613995a22f190728f4025fe9a36ff339	The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, @PHENOTYPICFEATURE$, @DISEASE$ like epilepsy or deafness and even 'developmental' defects such as osteopetrosis.	false
+cdd8bd27672eabb91bb66f2baf9260342eb80245	The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, @PHENOTYPICFEATURE$, neurological diseases like epilepsy or deafness and even 'developmental' defects such as @DISEASE$.	false
+b57d6388bac6127c8578e4898604d90c3c6e9d22	The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, @PHENOTYPICFEATURE$, neurological diseases like @DISEASE$ or deafness and even 'developmental' defects such as osteopetrosis.	false
+4909ece0e46835a63f0c23c7ed0f488a11c779b7	Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, @PHENOTYPICFEATURE$, renal salt loss, kidney stones and @DISEASE$.	has_symptom
+07fe68f41611ed13d315f5878274e16f3c56237f	@DISEASE$ is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and @PHENOTYPICFEATURE$, hepatosplenomegaly and anemia.	has_symptom
+d6e43525b931afc6322889ebe1b25b5f7b6a246b	Diseases caused by CLC dysfunction include myotonia, neurodegeneration, @PHENOTYPICFEATURE$, blindness, leukodystrophy, male infertility, renal salt loss, kidney stones and @DISEASE$, revealing a surprisingly broad spectrum of biological roles for chloride transport that was unsuspected when I set out to clone the first voltage-gated chloride channel.	has_symptom
+3d9f579c9bb11c9c126b175717946ba0632206c5	Diseases caused by @DISEASE$ dysfunction include myotonia, neurodegeneration, deafness, @PHENOTYPICFEATURE$, leukodystrophy, male infertility, renal salt loss, kidney stones and osteopetrosis, revealing a surprisingly broad spectrum of biological roles for chloride transport that was unsuspected when I set out to clone the first voltage-gated chloride channel.	false
+a285db202e72ea116f258adfbad5080f5d724222	Diseases caused by CLC dysfunction include myotonia, neurodegeneration, deafness, @PHENOTYPICFEATURE$, leukodystrophy, male infertility, renal salt loss, kidney stones and @DISEASE$, revealing a surprisingly broad spectrum of biological roles for chloride transport that was unsuspected when I set out to clone the first voltage-gated chloride channel.	false
+cfa311d945221973d74fc3e166827984dc6114f8	Diseases caused by CLC dysfunction include myotonia, neurodegeneration, deafness, @PHENOTYPICFEATURE$, @DISEASE$, male infertility, renal salt loss, kidney stones and osteopetrosis, revealing a surprisingly broad spectrum of biological roles for chloride transport that was unsuspected when I set out to clone the first voltage-gated chloride channel.	false
+b1bbc5df3366f4c1fd0112cdfdd9b9c0a8aa4d4e	Diseases caused by CLC dysfunction include myotonia, neurodegeneration, @DISEASE$, @PHENOTYPICFEATURE$, leukodystrophy, male infertility, renal salt loss, kidney stones and osteopetrosis, revealing a surprisingly broad spectrum of biological roles for chloride transport that was unsuspected when I set out to clone the first voltage-gated chloride channel.	false
+a18ee9cc4bf5a68043bbe40272d505f00fc53342	These diverse pathologies include the muscle disorder myotonia, cystic fibrosis, renal salt loss in Bartter syndrome, kidney stones, @PHENOTYPICFEATURE$, and the bone disease @DISEASE$.	has_symptom
+e5b54821eb2af02b090b740eec3412e3deff8497	These pathologies include neurodegeneration, leukodystrophy, mental retardation, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	has_symptom
+6d233ec5b2e6aa37a24fa1e52a80dc26a993e425	These pathologies include neurodegeneration, @DISEASE$, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+538f2538fe33c10757a0548a79a086f7cff50165	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, @DISEASE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+cde4a5ac1a5a9a5b1c7238b2892badc8bd62f03d	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, @DISEASE$, kidney stones, male infertility, and osteopetrosis.	false
+0724d68e28e204c63f3a6bd786e4b9aa9704a4a2	These pathologies include neurodegeneration, leukodystrophy, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+826aea7868933ce0a03e254c922e58c8992c19ff	These pathologies include neurodegeneration, @DISEASE$, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+6c2d072f78cf252abadc6d49b607e4d019ed56fb	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, @DISEASE$, and osteopetrosis.	false
+abde0e844aa67a5f4acd141b69621698323776cf	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, @DISEASE$, kidney stones, male infertility, and osteopetrosis.	false
+c4cc45f1a3c743ca86686e128f213e3463cd62ca	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, @DISEASE$, and osteopetrosis.	false
+439641eace48622e823d04cd0a32c3237b6364b3	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+159faac1ef902a12bd9fb134678a1da411612176	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+9317390f591bb943973bc67299aba41208e7af06	Unverricht-Lundborg disease (@DISEASE$) is a progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and @PHENOTYPICFEATURE$, without major cognitive decline.	has_symptom
+88c493917a328d819cc27ed5a0d8760dbe10bad0	@DISEASE$ (ULD) is a progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and @PHENOTYPICFEATURE$, without major cognitive decline.	has_symptom
+5ca2c622c58f8db50fb8e86634301cc8ab8565c8	@DISEASE$ (EPM1) is characterized by stimulus-sensitive and action-activated myoclonus, tonic-clonic seizures and @PHENOTYPICFEATURE$.	has_symptom
+7127b2846a022f2c1b62e4692c010007f3819d8d	A Cstb-deficient mouse model, which recapitulates the key features of @DISEASE$ including myoclonic seizures, @PHENOTYPICFEATURE$, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology.	has_symptom
+d88f3c82dbe12c3141d3048f10404865229aa53d	The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and @DISEASE$ suggests that our group are best categorised under the term of progressive myoclonic @PHENOTYPICFEATURE$ of the Unverricht-Lundborg type.	has_symptom
+235395ad4e54a7cd80ff646e2a47dad7d1de7dee	The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and Unverricht-Lundborg disease suggests that our group are best categorised under the term of progressive @PHENOTYPICFEATURE$ @DISEASE$ of the Unverricht-Lundborg type.	false
+e25a99df78ad24210b01eacc822e00755b73afda	The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, @DISEASE$ and Unverricht-Lundborg disease suggests that our group are best categorised under the term of progressive @PHENOTYPICFEATURE$ ataxia of the Unverricht-Lundborg type.	false
+4c7bbb41eafdc333783f85e67c826292b9567de3	The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and @DISEASE$ suggests that our group are best categorised under the term of progressive @PHENOTYPICFEATURE$ ataxia of the Unverricht-Lundborg type.	false
+207fe46574c358ad614cf160cfd84b4c14a0241e	Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, @DISEASE$, and Friedreich @PHENOTYPICFEATURE$.	has_symptom
+d5f1f9edefccc0530cd729095be8c9da49aaca50	Gene analysis was helpful for a diagnosis of @DISEASE$ in this patient because the @PHENOTYPICFEATURE$ and cognitive dysfunction were much milder than those commonly seen in patients with ULD.	has_symptom
+5c5ded8e33d46044da59d8d52079634ca4dfc2a7	Gene analysis was helpful for a diagnosis of ULD in this patient because the @PHENOTYPICFEATURE$ and cognitive dysfunction were much milder than those commonly seen in patients with @DISEASE$.	has_symptom
+ac175d9e0972c2281cb4665897e37bf3b04dde81	Five conditions account for most cases of progressive myoclonic @PHENOTYPICFEATURE$: @DISEASE$, Lafora disease, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	has_symptom
+c7ba31d062ee0346507fbb67ca7001f933a2ad3a	Five conditions account for most cases of progressive myoclonic ataxia: Unverricht-Lundborg disease, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+5f3e0f08c266bb35d80c7234c4bf4f7724287c54	Five conditions account for most cases of progressive @PHENOTYPICFEATURE$ ataxia: @DISEASE$, Lafora disease, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+e857860aa40156d5a144fa489bd64514be6323e4	Five conditions account for most cases of progressive @PHENOTYPICFEATURE$ ataxia: Unverricht-Lundborg disease, @DISEASE$, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+0372e80f42d93a1ee091bdc46db604e34afafa46	Five conditions account for most cases of progressive myoclonic @DISEASE$: Unverricht-Lundborg disease, Lafora disease, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+0efc5d78f7333a4b238c28537ad229dd1a0f8a6b	Five conditions account for most cases of progressive myoclonic ataxia: @DISEASE$, Lafora disease, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+269db4b6125e6da1880eaf3ea96c18be59505730	Five conditions account for most cases of progressive @PHENOTYPICFEATURE$ @DISEASE$: Unverricht-Lundborg disease, Lafora disease, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+b3b2e0d34cded3243e22f86903b8131667e6ad19	Unverricht-Lundborg disease (@DISEASE$) is a progressive myoclonus epilepsy with tonic-clonic seizures, action myoclonus, mild @PHENOTYPICFEATURE$, without dementia.	has_symptom
+50dfd33e18a33df9935839d56d233b77226e3e8b	@DISEASE$ (ULD) is a progressive myoclonus epilepsy with tonic-clonic seizures, action myoclonus, mild @PHENOTYPICFEATURE$, without dementia.	has_symptom
+f24d90672c67af224218b3f8f0dc3f0b450d3b28	The inherited epilepsy @DISEASE$ (EPM1) is caused by loss-of-function mutations in the cysteine protease inhibitor, cystatin B. Because cystatin B inhibits a class of lysosomal cysteine proteases called cathepsins, we hypothesized that increased proteolysis by one or more of these cathepsins is likely to be responsible for the seizure, @PHENOTYPICFEATURE$, and neuronal apoptosis phenotypes characteristic of EPM1.	has_symptom
+a113b0e72954d41067abd2e38e7c4d82f4c8f260	The inherited @DISEASE$ Unverricht-Lundborg disease (EPM1) is caused by loss-of-function mutations in the cysteine protease inhibitor, cystatin B. Because cystatin B inhibits a class of lysosomal cysteine proteases called cathepsins, we hypothesized that increased proteolysis by one or more of these cathepsins is likely to be responsible for the @PHENOTYPICFEATURE$, ataxia, and neuronal apoptosis phenotypes characteristic of EPM1.	false
+638daca8bd20f4c98ef3c4665fbecd7f22c5bfa7	The inherited epilepsy Unverricht-Lundborg disease (EPM1) is caused by loss-of-function mutations in the cysteine protease inhibitor, cystatin B. Because cystatin B inhibits a class of lysosomal cysteine proteases called cathepsins, we hypothesized that increased proteolysis by one or more of these cathepsins is likely to be responsible for the @PHENOTYPICFEATURE$, @DISEASE$, and neuronal apoptosis phenotypes characteristic of EPM1.	false
+9abe0c1c168790dc6ca9fa855972bc2de39a205a	The inherited epilepsy @DISEASE$ (EPM1) is caused by loss-of-function mutations in the cysteine protease inhibitor, cystatin B. Because cystatin B inhibits a class of lysosomal cysteine proteases called cathepsins, we hypothesized that increased proteolysis by one or more of these cathepsins is likely to be responsible for the @PHENOTYPICFEATURE$, ataxia, and neuronal apoptosis phenotypes characteristic of EPM1.	false
+14f6c180e603c68caf32142ff86727c95017e968	This was a prospective observational cohort study of symptomatic @DISEASE$ patients presenting with @PHENOTYPICFEATURE$.	has_symptom
+bebed8aa91da36110d5762b433b58cc5ac23d0d3	Our third case was a 21-year old female with a systemic lupus erythematous--Rowell syndrome, with skin lesions of @PHENOTYPICFEATURE$ multiforme type with some similarities to @DISEASE$ on the first examination.	has_symptom
+ed87e15dc3228b58e0fd28c49c2ce16a5342abac	No conclusion can as yet be drawn as to whether there is a pathogenetic connection between the fetal alcohol syndrome and the occurrence of malignant @PHENOTYPICFEATURE$ (as is the case with the @DISEASE$ and neuroblastoma), or whether these findings are purely coincidental.	has_symptom
+672b665d7c6d55ac52b0733961a26d4d8e9e076a	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of @DISEASE$ and hearing loss, but without the main feature cleft lip/palate, and without @PHENOTYPICFEATURE$, or short stature.	has_symptom
+68fa87ce882adf85071650b71c436a2344749eb6	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of @DISEASE$ and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or @PHENOTYPICFEATURE$.	false
+f13fe682c80f48b49679c1991a1b14484aefc0ca	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and @DISEASE$, but without the main feature cleft lip/palate, and without intellectual disability, or @PHENOTYPICFEATURE$.	false
+fdea25575ec9974d69cb40ec5fc653db252edfd8	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without @DISEASE$, or @PHENOTYPICFEATURE$.	false
+3501b9d9b163df5b47bb8a121ff552cfb2cc7ac1	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature @DISEASE$, and without intellectual disability, or @PHENOTYPICFEATURE$.	false
+ef273a43716a1936b7d296ab14b37fd607a272ab	The diagnostic spectrum in both series included pyogenic arthritis, rheumatoid arthritis, brucellar and tubercular @PHENOTYPICFEATURE$, gout, pigmented villonodular synovitis, synovial chondromatosis and @DISEASE$.	has_symptom
+781934940dae904e483c0ecda2e13b6b840a5ab7	HLA phenotypes in patients with @DISEASE$, rheumatic heart disease, and Yersinia @PHENOTYPICFEATURE$.	has_symptom
+a93b4956c0b45687c40418698a70bec02c6a1cf7	@DISEASE$ and Yersinia @PHENOTYPICFEATURE$.	has_symptom
+07bc820c32e4c797a1902c5ba88ed39903e98cf4	HLA phenotypes were determined in 109 patients with @DISEASE$ (RF), 48 patients with Yersinia @PHENOTYPICFEATURE$ (YA), 86 patients with chronic rheumatic heart disease (RHD), and 326 controls.	has_symptom
+c5efdfa646024e40e215f8e960ffbb5ee4a15d65	Three children receiving rhGH for @PHENOTYPICFEATURE$ with Turner syndrome, @DISEASE$, or Down syndrome.	has_symptom
+41fac70afb63b776aaa832c31e9a73de20308b4f	@DISEASE$ is characterized by respiratory distress, osseous dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+c50164326f41cd75490b8bb9587a76cc2e9d0389	@DISEASE$ was diagnosed based on the findings of fever, @PHENOTYPICFEATURE$, thrombocytosis, arthralgia and crescentic glomerulonephritis with vasculitis in the kidney biopsy specimens.	has_symptom
+0800bf0f57b15a1c4129aed37dc14198d510d660	@DISEASE$ (PAN) can affect many organ systems but usually presents with a systemic illness characterised by malaise, @PHENOTYPICFEATURE$, myalgia, arthralgia and signs of end-organ damage.	has_symptom
+1729222e8507e99fcbda21be607d3c0495a90745	Four patients with severe cerebral palsy, @PHENOTYPICFEATURE$, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the @DISEASE$ in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	has_symptom
+abfb5c6004ea302716b20ff8cc421d9853361681	Four patients with severe cerebral palsy, @DISEASE$, and @PHENOTYPICFEATURE$ who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+ea71e9d06ec397323c1869e5b47c6ebaf110fb64	Four patients with severe cerebral palsy, mental retardation, and @PHENOTYPICFEATURE$ who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included @DISEASE$, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+90f9abd1003da52131e32dde1b8d76a80d669fdd	Four patients with severe cerebral palsy, mental retardation, and @PHENOTYPICFEATURE$ who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the @DISEASE$ in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+d4ee29a10a380c543f9c19fd4a888c2a33b4b0d3	Four patients with severe cerebral palsy, mental retardation, and @PHENOTYPICFEATURE$ who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without @DISEASE$, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+f2041c721dad3d583506bef5888e042b7ccaf3be	Tissue factor (TF), C-reactive protein (CRP), @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) and monocyte chemoattractant protein 1 (MCP-1) may play critical roles in the process of @DISEASE$ thrombosis and pulmonary vascular remodeling.	has_symptom
+45dbd63fb54177aa91fee28fcfca9fc7127e4e9b	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of @DISEASE$ (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, @PHENOTYPICFEATURE$ and lung cancer.	has_symptom
+bebe19a7ecd7733261e85c788a7215b8b5b254fb	Germline alterations of the @PHENOTYPICFEATURE$ suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and @DISEASE$.	false
+d2117205eac2322a27ed499d048f5c0fe8a25734	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of @DISEASE$ (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid @PHENOTYPICFEATURE$, leukaemia and lung cancer.	false
+2be67fff33591070761020ece797d43c1b8fb00e	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid @PHENOTYPICFEATURE$, leukaemia and @DISEASE$.	false
+3de7897f8abaeec271bff56408aa7b78bb08189a	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide @PHENOTYPICFEATURE$ spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, @DISEASE$ and lung cancer.	false
+389ef81a958d055cd22089bc5e7ca456cdac3123	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid @PHENOTYPICFEATURE$, @DISEASE$ and lung cancer.	false
+252f2a4650ad75891c723a13afdc0f15e088e5b7	Germline alterations of the @PHENOTYPICFEATURE$ suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal @DISEASE$, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and lung cancer.	false
+9dc6d2ab748dccd7fc3041654e1f10995f22d286	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of @DISEASE$ (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical @PHENOTYPICFEATURE$, plexus choroid tumours, leukaemia and lung cancer.	false
+9d4ee941741ca8976b9937bcc4aaf7aea0e00415	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide @PHENOTYPICFEATURE$ spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and @DISEASE$.	false
+d46034c4b4059b1371da5dbf31cbc545999583c3	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical @PHENOTYPICFEATURE$, plexus choroid tumours, @DISEASE$ and lung cancer.	false
+0ecafd6e94818e6c9c37336864093ce60bd664a2	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical @PHENOTYPICFEATURE$, plexus choroid tumours, leukaemia and @DISEASE$.	false
+8450bbae366df959847e6628bc9872eb52977c5a	Germline alterations of the @PHENOTYPICFEATURE$ suppressor TP53 gene are detected approximately in 25% of the families suggestive of @DISEASE$ (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and lung cancer.	false
+f840c5a33c9f00a969a58ef9e519865b03c697de	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of @DISEASE$ (LFS), characterised by a genetic predisposition to a wide @PHENOTYPICFEATURE$ spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and lung cancer.	false
+5f31401a2378406894d8f0597e12de707f4bea65	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal @DISEASE$, brain tumours, adrenocortical tumours, plexus choroid @PHENOTYPICFEATURE$, leukaemia and lung cancer.	false
+3ccc32fb64cf38632d4fb6cc54350cee60fec69b	Germline alterations of the @PHENOTYPICFEATURE$ suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal breast cancers, brain tumours, adrenocortical tumours, plexus choroid tumours, @DISEASE$ and lung cancer.	false
+71a9faa4131f7b98bff3b7cb4adf3434d0250efb	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide @PHENOTYPICFEATURE$ spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal @DISEASE$, brain tumours, adrenocortical tumours, plexus choroid tumours, leukaemia and lung cancer.	false
+b2493f3b0a1af9c079b731a50c40ff9918d7d7f9	Germline alterations of the tumour suppressor TP53 gene are detected approximately in 25% of the families suggestive of Li-Fraumeni syndrome (LFS), characterised by a genetic predisposition to a wide tumour spectrum, including soft-tissue sarcomas, osteosarcomas, premenopausal @DISEASE$, brain tumours, adrenocortical @PHENOTYPICFEATURE$, plexus choroid tumours, leukaemia and lung cancer.	false
+faec83576298fa855bb2617fb233f3b6b64aeef0	The @DISEASE$ (LFS) is a dominant disease whose hallmark is an increased risk of breast cancers, brain tumours, sarcomas, @PHENOTYPICFEATURE$ and adrenal carcinoma.	has_symptom
+c072e93c4e5f545c284002b76369a19792668819	A 10-year old spayed, female Labrador retriever, with an 8-month history of weight loss, increased heart rate, and @PHENOTYPICFEATURE$, was diagnosed with @DISEASE$ and a thyroid neoplasm.	has_symptom
+bf9744e2f0f5b5d6e72a3cfb1046ca7eb7b6dc8b	In patients aged 50 years and older with @DISEASE$ who develop @PHENOTYPICFEATURE$, early diagnosis and treatment of a probable underlying tumour, usually SCLC, is indicated to increase the chances of neurological recovery.	has_symptom
+d20ee0f7cd7c90853aff8e6fc5219a45f67d7960	In patients aged 50 years and older with @DISEASE$ who develop encephalopathy, early diagnosis and treatment of a probable underlying @PHENOTYPICFEATURE$, usually SCLC, is indicated to increase the chances of neurological recovery.	false
+c6c24fc13b204453f1f59fd3bff3571fc6451ff3	In patients aged 50 years and older with OMS who develop @DISEASE$, early diagnosis and treatment of a probable underlying @PHENOTYPICFEATURE$, usually SCLC, is indicated to increase the chances of neurological recovery.	false
+38eef55a6d77bb90e844787ce25351ad19bc8f3a	Reactivity to neuroblastoma extracts in childhood cerebellar @PHENOTYPICFEATURE$ ("@DISEASE$)	has_symptom
+baa3d7d882d8583fb2e70e3fe605078097a04a1f	Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto @PHENOTYPICFEATURE$, primary autoimmune CA, gluten ataxia, @DISEASE$, and paraneoplastic cerebellar degenerations.	has_symptom
+843cca0520f01002ff84044b7dbd07a9f411b792	Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto @DISEASE$, primary autoimmune CA, gluten @PHENOTYPICFEATURE$, opsoclonus-myoclonus syndrome, and paraneoplastic cerebellar degenerations.	false
+b92c56835975edb66d55f4a81c01d71199aab768	Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto encephalopathy, primary autoimmune CA, gluten @PHENOTYPICFEATURE$, @DISEASE$, and paraneoplastic cerebellar degenerations.	false
+88e950413057f28fefed6e4f726163c0f0e598ec	We present the case of a 47-year-old woman with @PHENOTYPICFEATURE$, ataxia and oscillopsia diagnosed with opsoclonus myoclonus syndrome (@DISEASE$).	has_symptom
+4d0c5e1f96ad53f5fe6aeec193185b3b9742f46a	We present the case of a 47-year-old woman with @PHENOTYPICFEATURE$, ataxia and oscillopsia diagnosed with @DISEASE$ (OMS).	has_symptom
+388671ed3cfbe32a269ab0da3c0b1804e0398a5b	We present the case of a 47-year-old woman with @DISEASE$, @PHENOTYPICFEATURE$ and oscillopsia diagnosed with opsoclonus myoclonus syndrome (OMS).	false
+5beb9a2670df6876b79df96148ddb8387c634e58	We present the case of a 47-year-old woman with encephalopathy, @PHENOTYPICFEATURE$ and oscillopsia diagnosed with @DISEASE$ (OMS).	false
+ef3803aea29db33971bc586ca132cc8233b1174e	We present the case of a 47-year-old woman with encephalopathy, @PHENOTYPICFEATURE$ and oscillopsia diagnosed with opsoclonus myoclonus syndrome (@DISEASE$).	false
+60f04645911d6efc6e1a30ad780bd5bf85c641c5	Ketamine and myoclonic @PHENOTYPICFEATURE$ of infants (@DISEASE$).	has_symptom
+522156d71b14910c08e204a3ba5351013fa62767	Ketamine and @PHENOTYPICFEATURE$ @DISEASE$ of infants (Kinsbourne syndrome).	false
+920b7077fa112ac81c29fbbeef6eadf63bb56dee	Ketamine and @PHENOTYPICFEATURE$ encephalopathy of infants (@DISEASE$).	false
+a1cbd3286a81d6c673ed61176a62e11bce189912	Patients with paraneoplastic OMS were older [median age: 66 years versus 40 years (P = 0.006) of those with idiopathic @DISEASE$] and had a higher frequency of @PHENOTYPICFEATURE$ (64% versus 10%; P = 0.02).	has_symptom
+1aafbcc48047994110a0118b782537e822c37bd3	Patients with paraneoplastic @DISEASE$ were older [median age: 66 years versus 40 years (P = 0.006) of those with idiopathic OMS] and had a higher frequency of @PHENOTYPICFEATURE$ (64% versus 10%; P = 0.02).	has_symptom
+effe74138d9c1de662de7f81635f9b3fdb4a257e	This disorder is characterized by 46,XY sex reversal, @PHENOTYPICFEATURE$, early-onset @DISEASE$ and enlarged adrenal with fatty accumulation.	has_symptom
+6de5d623e7e2c9f1d2374a90ec7d118a05d6f9e4	This disorder is characterized by 46,XY sex reversal, skin hyperpigmentation, early-@PHENOTYPICFEATURE$ @DISEASE$ and enlarged adrenal with fatty accumulation.	false
+bbf709144ca3ec9f7059e05386182492c9c356d3	This disorder is characterized by 46,XY sex reversal, @DISEASE$, early-@PHENOTYPICFEATURE$ adrenal crisis and enlarged adrenal with fatty accumulation.	false
+d0f123868308d0a84e17e6dfaa49ad234e705e1b	All patients presented typical @DISEASE$ syndrome features, of intractable diarrhoea in infancy requiring parenteral nutrition, a @PHENOTYPICFEATURE$ with hair abnormalities, and immunological disorders.	has_symptom
+c1288ad8fbe39473db80b4e6023b1a10c0bd94ea	All patients presented typical @DISEASE$ syndrome features, of intractable diarrhoea in infancy requiring parenteral nutrition, a facial dysmorphism with @PHENOTYPICFEATURE$, and immunological disorders.	false
+379f38a3362057f6af261279a4d10e3f5ae09d0d	All patients presented typical SD/THE syndrome features, of intractable diarrhoea in infancy requiring parenteral nutrition, a @DISEASE$ with @PHENOTYPICFEATURE$, and immunological disorders.	false
+93aeb6d6439741805a2d8975aaac5c55e3c6893f	All patients presented typical SD/THE syndrome features, of intractable @DISEASE$ in infancy requiring parenteral nutrition, a facial dysmorphism with @PHENOTYPICFEATURE$, and immunological disorders.	false
+ed755fd5a26dd0380ec144c2e87e10c419f79a36	@DISEASE$ (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, @PHENOTYPICFEATURE$, immunodeficiency and woolly hair.	has_symptom
+6b7c74f4111e1da21f27870cc45ec56aa06ed7a3	@DISEASE$ (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, @PHENOTYPICFEATURE$, hypopigmentation, and cardiac defects.	has_symptom
+22beb40278ed9ef4d59e4bb51adf3feb7e54d1b0	Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening @DISEASE$ in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, @PHENOTYPICFEATURE$, and cardiac defects.	false
+7881eb3eb00b7a83cdd05513b36c3ab1356395b4	@DISEASE$ (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, @PHENOTYPICFEATURE$, and cardiac defects.	false
+fc41bcfd8178e5d8a7e1349bd19073254771faa2	Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, @DISEASE$, trichorrhexis nodosa, facial dysmorphism, @PHENOTYPICFEATURE$, and cardiac defects.	false
+f3b1e30c382dc5edc44787ac0d6fd6ca8c08808c	Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, @DISEASE$, liver disease, trichorrhexis nodosa, facial dysmorphism, @PHENOTYPICFEATURE$, and cardiac defects.	false
+879723751e0ea2fff549df13b0cd21373cd35cac	Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, @DISEASE$, @PHENOTYPICFEATURE$, and cardiac defects.	false
+e135897a7eb1ab720d1a73b99fe3dcb86bc5731e	Syndromic diarrhea/tricho-hepato-enteric syndrome (@DISEASE$) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), @PHENOTYPICFEATURE$, immune dysfunction, and liver and skin abnormalities.	has_symptom
+4c25224ce1c72f9e0c72f4ff9d1548f6e8bdef44	@DISEASE$ (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), @PHENOTYPICFEATURE$, immune dysfunction, and liver and skin abnormalities.	has_symptom
+aa0f2c56a0a92bd1767cee1a4f3fcb0961a17af3	Syndromic diarrhea/tricho-hepato-enteric syndrome (@DISEASE$) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, @PHENOTYPICFEATURE$, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities.	false
+aa7102fc2b5059487886b6332bfdbf90feb921e7	@DISEASE$ (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, @PHENOTYPICFEATURE$, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities.	false
+037b2648dea853ad02b3169a14a9af5043f5a4e1	Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, @PHENOTYPICFEATURE$, intrauterine growth restriction (IUGR), facial dysmorphism, @DISEASE$, and liver and skin abnormalities.	false
+b0d89a89e7a8d793348db8bb0db5eb9fb226b448	Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, @PHENOTYPICFEATURE$, intrauterine growth restriction (IUGR), @DISEASE$, immune dysfunction, and liver and skin abnormalities.	false
+925ae115d2387012be72ce5c84771eb2173266eb	Other diagnostic clues include facial weakness, @PHENOTYPICFEATURE$ and ophthalmoplegia, skeletal and joint abnormalities, and histopathological signs that are hallmarks of @DISEASE$ such as centralized nuclei and necklace fibers.	has_symptom
+00c7b2b107049c6fe5df830960ce9bb31ea0e366	We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with @DISEASE$ of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular @PHENOTYPICFEATURE$ in only one and facio-scapulo-peroneal syndrome in another patient.	has_symptom
+194ea0eed1f21d540433112067b0a6359f9b6564	Dynamin (DNM2) @DISEASE$ (CNM) has variable age of onset, distal greater than proximal muscle weakness, @PHENOTYPICFEATURE$ with or without extraocular muscle weakness, and a characteristic muscle biopsy with radial sarcoplasmic strands giving spoke like appearance.	has_symptom
+83072b0e1d71b7b74aef4750994ef10f56997d15	There is a strong correlation between @DISEASE$, predominantly @PHENOTYPICFEATURE$, and autoimmune pancreatitis.	has_symptom
+1086c574f6093e6ea46c318fb128c8794fbc3f57	Inflammatory bowel disease (@DISEASE$) is a chronic and debilitating condition classified as @PHENOTYPICFEATURE$ and Crohn's disease.	has_symptom
+1f46e477bbdfae92711c92f1335399dd627c81c3	@DISEASE$ (IBD) is a chronic and debilitating condition classified as @PHENOTYPICFEATURE$ and Crohn's disease.	has_symptom
+c0df139ed1577ec9366414d54bae4b012d073582	We examined a cohort of 78 cases of @DISEASE$: 50 @PHENOTYPICFEATURE$ and 38 Crohn's disease.	has_symptom
+5aaea9b445ef19fafb326f29760aca5183f5943e	Inflammatory bowel diseases (@DISEASE$), @PHENOTYPICFEATURE$ (UC), and Crohn's disease (CD), represent systematic chronic conditions with a deficient intestinal absorption.	has_symptom
+b975c225983f4253f802a170efdb3f94f72832a9	@DISEASE$ (IBD), @PHENOTYPICFEATURE$ (UC), and Crohn's disease (CD), represent systematic chronic conditions with a deficient intestinal absorption.	has_symptom
+3fd2102af6c12f6f73151f750b22e839b26a2aff	Fifty-eight patients had Crohn disease, 13 had @PHENOTYPICFEATURE$, and three had @DISEASE$, type unclassified.	has_symptom
+b313fa0ef3020af0406252fc8db5d5fef8d0c8d0	Intestinal barrier dysfunction is a hallmark of @DISEASE$ (IBDs) such as @PHENOTYPICFEATURE$.	has_symptom
+c5f39316a0db2e6c1ec9986e0599c3fa824f55b1	@DISEASE$ (IBD), Crohn's disease (CD) and @PHENOTYPICFEATURE$ (UC), were retrospectively assessed on the incidence and prevalence in Vukovarsko-Srijemska County, continental Croatia.	has_symptom
+0374f1487bc160c8de602653d9cf0bc0fa2f5b20	Inflammatory bowel diseases (@DISEASE$), Crohn's disease (CD) and @PHENOTYPICFEATURE$ (UC), were retrospectively assessed on the incidence and prevalence in Vukovarsko-Srijemska County, continental Croatia.	has_symptom
+420d91284fb892791e81609f7b0bd868cffc28e4	@DISEASE$ (IBD) consists of Crohn's disease, @PHENOTYPICFEATURE$ and an unspecific IBD.	has_symptom
+a8c33b086ed4366ae1fc18020354c78d09b8841d	Inflammatory bowel disease (@DISEASE$) consists of Crohn's disease, @PHENOTYPICFEATURE$ and an unspecific IBD.	has_symptom
+50346bff1588acce4a13ee3d4d0001f44282e456	Sclerosing cholangitis (SC) is an important immune-mediated extra-intestinal manifestation of @DISEASE$ (IBD), primarily affecting patients with @PHENOTYPICFEATURE$ (UC).	has_symptom
+dc708a65b827c918ea5aa6560b1e077b94e3ad92	Sclerosing cholangitis (SC) is an important immune-mediated extra-intestinal manifestation of inflammatory bowel disease (@DISEASE$), primarily affecting patients with @PHENOTYPICFEATURE$ (UC).	has_symptom
+adb6a28582029e5f1aa60fd0c9079dd59a2e0234	Of 251 @DISEASE$ patients starting vedolizumab therapy, 65 patients (48% Crohn's disease, 52% @PHENOTYPICFEATURE$) met inclusion criteria.	has_symptom
+58d39eeb531533730ba7280aeba12c51f1612a0d	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, @DISEASE$, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	has_symptom
+0df0203e44ab83e46caed268e3ffcaf643a624ef	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, @DISEASE$, chorea, choreoathetosis, myoclonus).	false
+59f1f9232faa8e0ddcdaeb9f8da892d711734650	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, @DISEASE$, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+1273bf6cd755073c2132c702e5ef87448a6e5c39	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (movement disorder, @DISEASE$, chorea, choreoathetosis, myoclonus).	false
+aaec28acbec3adcb5fccfd705843fe6a1a1fc561	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+ac30a8751b626916877eb9b5d66d91a1f4663bf5	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, @DISEASE$, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+7939f79a94b98a152407e8e94a0018237cbf3549	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@DISEASE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+ebac1019a257e7bab5526b71e20f3335ddd25e5b	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+035d4e9bc97f47fd2277b32f94251e0f0762419f	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (@DISEASE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+afaa29c3049176b1bf329e9b8db0c90bed75b7c3	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+7d50bf470675ee0bebe8f44cc749f0b1e714331e	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich @PHENOTYPICFEATURE$, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+21e7de9210fdfba70034721ce265dad0821ab773	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, @DISEASE$, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+de78b305238cbeb02ff02eb72c7b9e29960c7811	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+8fb8e4843bc97f9ef8e1aa485dd226ae8e5ed1a2	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive @PHENOTYPICFEATURE$, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, @DISEASE$, chorea, choreoathetosis, myoclonus).	false
+ea657523c8087d314239d6e41242903ecfd30a7e	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (@DISEASE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+5ac53196eb5d878d920742124031025a85e009ba	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus).	false
+8f2689029fd43037b5f0bbda00e3b983ce06d40d	@DISEASE$: A review of @PHENOTYPICFEATURE$, clinical features, and genotype correlations.	has_symptom
+7e4ceadab362d7e28266cdcf351c8aeafb7c1e7e	We quantitatively assessed the nature of upper-limb @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+43cd47a6d120519b977507a61b01220c417ae9ab	@DISEASE$ commonly results in a spectrum of @PHENOTYPICFEATURE$ beyond ataxia and telangiectasias.	has_symptom
+1e804588dde660ee972e9ab189a81c3f5b8ef752	Ataxia-telangiectasia commonly results in a spectrum of @DISEASE$ beyond @PHENOTYPICFEATURE$ and telangiectasias.	false
+373e85ce65b47b42b416f5764aab23fc117aaaa0	@DISEASE$ commonly results in a spectrum of movement disorders beyond @PHENOTYPICFEATURE$ and telangiectasias.	false
+ce69666d313edca3d3723de6c291acfc8c179598	To assess the clinical spectrum of @DISEASE$ (A-T) in adults, with a focus on @PHENOTYPICFEATURE$.	has_symptom
+2380d820419d91292f0f64c9570aa62116052458	@DISEASE$: A review of @PHENOTYPICFEATURE$, clinical features and genotype correlations - Addendum.	has_symptom
+362359212c79c4df293e488d17cb1c86b00a7962	@DISEASE$ may present with few, if any, of its typical extraneurological manifestations, but the combination of an extrapyramidal @PHENOTYPICFEATURE$, ocular motor apraxia with head thrusting and cerebellar incoordination is characteristic.	has_symptom
+a463d6f01b9ae91438e333202c5cbd2720f3f62c	Ataxia telangiectasia may present with few, if any, of its typical extraneurological manifestations, but the combination of an extrapyramidal @DISEASE$, @PHENOTYPICFEATURE$ with head thrusting and cerebellar incoordination is characteristic.	false
+6868eb26ca98d2b2d1d00bbd050ace8d2868616a	@DISEASE$ may present with few, if any, of its typical extraneurological manifestations, but the combination of an extrapyramidal movement disorder, @PHENOTYPICFEATURE$ with head thrusting and cerebellar incoordination is characteristic.	false
+338e2b13a194968a7d0682ed4fef81cc69f58c50	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (@DISEASE$, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	has_symptom
+2754ed6f7367c1d399c811301f82b35900e16011	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, @DISEASE$).	has_symptom
+578da0a967db788e4ac9cc45dcad0fffc6a3e1e2	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include @DISEASE$ or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+a4fd9efa2b40b4749a7a184db7e0cf5bf6df5def	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of @PHENOTYPICFEATURE$ include dystonia or @DISEASE$ with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+afb8723efcb0c229dc63796338166beedc8d8a45	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of @PHENOTYPICFEATURE$ include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, @DISEASE$).	false
+9300d27ffeb8f46d541aab7eaad112873d866b2e	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (@DISEASE$, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+e19ddbd4188a201bd01ed9ad513834eded13cdf1	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (@DISEASE$, ataxia-telangiectasia).	false
+218f1753300355c685747fc138a3abe47b454394	Clinical presentations with an isolated hyperkinetic @DISEASE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+e23d0d95d09caedfaa8eb4ffc4edd96caea8e588	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of @PHENOTYPICFEATURE$ include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (@DISEASE$, ataxia-telangiectasia).	false
+deac67c3e6c68bd9d5292de2c9103892171b6e9f	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or @DISEASE$ with predominant upper limb and cervical involvement (ataxia-telangiectasia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+82fdfee92774e6768bdf18d160910505311efcb2	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of @PHENOTYPICFEATURE$ include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (@DISEASE$, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+0ad0c702ee73f1f7962fdec24d5d36b5d759797c	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, @PHENOTYPICFEATURE$ with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, @DISEASE$).	false
+179659dded9e8311c019a98d1284ce5534a3ba6e	Clinical presentations with an isolated hyperkinetic @DISEASE$ in the absence of @PHENOTYPICFEATURE$ include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+edf68a6a5a924101821c5e0bfca89270772a1510	Clinical presentations with an isolated hyperkinetic movement disorder in the absence of @PHENOTYPICFEATURE$ include @DISEASE$ or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia).	false
+e278d390a78d83b4f4ed80b297cdc070e38a66ab	@DISEASE$ presenting as an extrapyramidal @PHENOTYPICFEATURE$ and ocular motor apraxia without overt telangiectasia.	has_symptom
+da5cebab8c79ee9b8b0c5c3f9e740e6c504a1f69	@DISEASE$ presenting as an extrapyramidal movement disorder and @PHENOTYPICFEATURE$ without overt telangiectasia.	false
+5d4a3aa8d1c8a4d5b28e7788260430360f8614e3	Ataxia telangiectasia presenting as an extrapyramidal movement disorder and @PHENOTYPICFEATURE$ without overt @DISEASE$.	false
+1a32efb7375ec35d31aed3e735053dfe6fbd843d	Ataxia telangiectasia presenting as an extrapyramidal @DISEASE$ and @PHENOTYPICFEATURE$ without overt telangiectasia.	false
+2d7267f5c6e210db20d48e927685a29e2d744b2f	We herein report three cases of @DISEASE$ in men (36-72 years of age) presenting with @PHENOTYPICFEATURE$ and suprasellar masses measuring approximately 20 to 30 mm in diameter.	has_symptom
+d7d4a1c79b30ea884249b30a7786592d81b093d4	[Tyrosinemia and @DISEASE$ (an autosomal recessive hereditary metabolic disease of childhood with bilateral dendritic pseudokeratitis, keratosis palmaris et plantaris and @PHENOTYPICFEATURE$)].	has_symptom
+b70af8abd17c9957dadf68639d7bfa15556da2ee	@DISEASE$ or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	has_symptom
+b74b25661e7e2ea02bdbd9002f837b639a9e0dd2	Tyrosinemia type II or @DISEASE$ (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	has_symptom
+927ceba1548d7d8ea7fbee7252a2db364df4f027	Tyrosinemia type II or Richner-Hanhart Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+b69c99f790053f182ed90a613b092ece0e1a41e0	Tyrosinemia type II or @DISEASE$ (RHS) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+a350c06e7ebd619df4d3a4cf3b72fdf8f89c42f0	@DISEASE$ or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+93315502dfcbd73191a42c7f560b20d8496b86ea	Tyrosinemia type II or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, @DISEASE$, and elevated blood tyrosine levels.	false
+c964ed2e301b42c603c39caa6747dec8778d213d	Richner-Hanhart syndrome (@DISEASE$) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and @PHENOTYPICFEATURE$.	has_symptom
+68ad9e5a58c07e72731be495f7947036e70cd2ab	@DISEASE$ (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and @PHENOTYPICFEATURE$.	has_symptom
+877f13fb7f74caa45d86d4a1a86ea0c2675a47b8	@DISEASE$ (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful @PHENOTYPICFEATURE$, and mental retardation.	false
+7045f031e3fc53780a6b2d6bae449bd7daa1d125	Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive @DISEASE$ characterized by ocular changes, painful @PHENOTYPICFEATURE$, and mental retardation.	false
+cacbea91f5d9ab31b584ec1eb4f8ea96c9375611	Richner-Hanhart syndrome (@DISEASE$) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful @PHENOTYPICFEATURE$, and mental retardation.	false
+737ea23497df843c19480ee8858359ccac106e22	Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e3cd13370321d32c772031ccb042eff5c0c84a64	Tyrosinemia type II (@DISEASE$, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	has_symptom
+cdd2a3ba2a5b501b51d1e36c61080bef08b0a06d	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	has_symptom
+a273d341bd521aebcd9a6f8e1c7fc3826c192c00	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+8e96aa7a17c566d103d433d15f65cd509cbdb00a	Tyrosinemia type II (Richner-Hanhart syndrome, @DISEASE$) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+503684a769f8ae85d69c148735db37d7e6154589	Tyrosinemia type II (@DISEASE$, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+099a7a0191250324cd2e1a9d9cce5d486a264602	Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, @DISEASE$, and elevated blood tyrosine levels.	false
+90abaf6fb9cd264bb437755013b2fefe7a070bf3	The @DISEASE$ with tyrosinemia was recognized in a @PHENOTYPICFEATURE$ adolescent boy.	has_symptom
+0a8f9658e7b3af02b1aab439098a744f30663382	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	has_symptom
+22e211042c21e9b4e557c833e23ea8534b196f23	Tyrosinemia type II (@DISEASE$, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	has_symptom
+4ebac142fa866f01c0502975e62937a67547ea0c	Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, @DISEASE$, and elevated blood tyrosine levels.	false
+dcd9f630c96a3a78bf8674c238816165a449558a	Tyrosinemia type II (@DISEASE$, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+c50925c0d1fe3a4c86b2fd26894669a493f9fe66	Tyrosinemia type II (Richner-Hanhart syndrome, @DISEASE$) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+65bf15e5ac937fdc6b41aab86c98393fb1d8c755	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+9168c0135a328a540f4cfbcec9b0677261435e99	Clinical findings of @DISEASE$ include neurological symptoms and @PHENOTYPICFEATURE$ but no consistent phenotype has emerged.	has_symptom
+41f48daeaec34832019926c18b27d8ee406fe643	These cases illustrate the typical corneal findings of the @DISEASE$ (pseudodendritic keratitis, hyperkeratotic skin lesions of the palms and sole without @PHENOTYPICFEATURE$).	has_symptom
+73aeb83df5d992fe33e1171500f4a115e80e31bc	Deficiency of the hepatic cytosolic enzyme tyrosine aminotransferase (TAT) causes marked hypertyrosinaemia leading to painful palmoplantar hyperkeratoses, pseudodendritic keratitis and variable @PHENOTYPICFEATURE$ (oculocutaneous tyrosinaemia type II or @DISEASE$).	has_symptom
+4dfbd95fff44d15bc034ab6cd0baf977a3df86fd	Clinical findings of @DISEASE$ include neurological symptoms and @PHENOTYPICFEATURE$.	has_symptom
+5d53052df6e66dfa4974c8bf3fa5c402a019953b	We estimated that rheumatoid arthritis affects 1.3 million adults (down from the estimate of 2.1 million for 1995), juvenile @PHENOTYPICFEATURE$ affects 294,000 children, spondylarthritides affect from 0.6 million to 2.4 million adults, @DISEASE$ affects from 161,000 to 322,000 adults, systemic sclerosis affects 49,000 adults, and primary Sj?gren's syndrome affects from 0.4 million to 3.1 million adults.	has_symptom
+631b5f4979ebf3f9aafe136cab79a3be9ec8329a	Patients with incomplete lupus exhibited clinical and immunologic characteristics different from those in @DISEASE$ patients: no serositis and alopecia, more common oral ulcers and @PHENOTYPICFEATURE$, lower disease activity index, lower positivity for antinuclear and anti-double-strand DNA antibodies, and higher complement levels.	has_symptom
+c575b750af6324ea0dccf3851f06b83b05f8c22f	Patients with incomplete lupus exhibited clinical and immunologic characteristics different from those in SLE patients: no serositis and alopecia, more common @PHENOTYPICFEATURE$ and @DISEASE$, lower disease activity index, lower positivity for antinuclear and anti-double-strand DNA antibodies, and higher complement levels.	false
+20d5884f2d4ea8a69e3e01fbb67f9587632f38bc	Patients with incomplete lupus exhibited clinical and immunologic characteristics different from those in @DISEASE$ patients: no serositis and alopecia, more common @PHENOTYPICFEATURE$ and arthritis, lower disease activity index, lower positivity for antinuclear and anti-double-strand DNA antibodies, and higher complement levels.	false
+e3557799355ec838664041b41d473e1d8406e2c9	Patients with APS associated with @DISEASE$ (SLE) had more episodes of @PHENOTYPICFEATURE$, livedo reticularis and more frequently exhibited thrombocytopenia and leucopenia.	has_symptom
+488db0cbbf73c280a72073be8e59839b5a92aa24	To evaluate alterations of the soft tissues, tendons, and bones as detected by magnetic resonance imaging (MRI) in patients with @DISEASE$ (SLE)-associated @PHENOTYPICFEATURE$ of the finger joints.	has_symptom
+ae3ae4d7048160cb45571000237a536572eb74b8	One hundred and forty-three young adults, ages 18 to 30 years, with @DISEASE$ (54.5%) and juvenile @PHENOTYPICFEATURE$ (45.5%) completed a 30-min online questionnaire of their work and education experiences.	has_symptom
+c947033f53d0176e955c285df82312d4a8a647d5	These conditions include rheumatoid and juvenile @PHENOTYPICFEATURE$, Sjogren's syndrome, @DISEASE$, Behcet's and antiphospholipid syndromes, systemic sclerosis, vasculitis, sarcoidosis, chronic fatigue syndrome, and fibromyalgia.	has_symptom
+3545bd1a903926659e0cc80c7a7d0c3e4fb96d6d	Increased prevalence of JC polyomavirus viruria was associated with @PHENOTYPICFEATURE$/arthralgia in patients with @DISEASE$.	has_symptom
+2a06b989848546408ff8098f7a3fac2d136fd4ef	Increased prevalence of JC polyomavirus viruria was associated with arthritis/@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c8317169d6886e5e4d12b25db27a374d0dc667b1	Increased prevalence of JC polyomavirus viruria was associated with @DISEASE$/@PHENOTYPICFEATURE$ in patients with systemic lupus erythematosus.	false
+5036356f066a62f0022ede66663e7110c6fd9105	Although most of the patients with antibodies to Sm, RNP, or both had @DISEASE$, some had other diagnoses, including cutaneous lupus, drug-induced lupus, rheumatoid arthritis, juvenile @PHENOTYPICFEATURE$, mixed connective tissue disease, Raynaud's disease, progressive systemic sclerosis, miscellaneous rheumatic and nonrheumatic diseases, and undifferentiated connective tissue disease syndromes.	has_symptom
+a3d611b46506c4976189b5103ee9c933265a483f	We enrolled consecutive @DISEASE$ patients with @PHENOTYPICFEATURE$/arthralgia.	has_symptom
+ee7a3f139a5ec4f88ffb3282e416af20a2ef5566	We enrolled consecutive SLE patients with @DISEASE$/@PHENOTYPICFEATURE$.	false
+4cadbddd0f9780b7d0dcdceefc656a40d72ef696	We enrolled consecutive @DISEASE$ patients with arthritis/@PHENOTYPICFEATURE$.	false
+d5059482a1f0e36dac75f8c44d3c4aa47de0b735	Our study included 120 patients in the pediatric and adolescent age group and they were categorized into three groups with (mean ? SD of 16.7 ? 3, 16.1 ? 2, 15.9 ? 3) respectively: Group 1 including 40 patients with SLE and active lupus nephritis; Group 2 including 40 patients with @DISEASE$ and without active lupus nephritis, but with some extra renal activity mainly @PHENOTYPICFEATURE$; and Group 3 including 40 healthy subjects.	has_symptom
+1bdbe4eba7f287e89185c612849beadbfa9f1d0d	The origin and long-term outcome of cerebellar mutism syndrome (@DISEASE$), a postoperative syndrome of diminished speech, hypotonia, and @PHENOTYPICFEATURE$ that affects approximately 25% of patients with medulloblastoma, is poorly elucidated.	has_symptom
+1a36842ada7e39998ac546cb467c2fd48d32bbfb	Post-operative pediatric cerebellar mutism syndrome (@DISEASE$), characterized by mutism, @PHENOTYPICFEATURE$/hypotonia, and emotional lability, can result in long-term deficits following resection of posterior fossa (PF) tumors.	has_symptom
+b6b5565a198c064784ddcab3f503e1c20144a030	Post-operative pediatric cerebellar @DISEASE$ syndrome (CMS), characterized by mutism, ataxia/hypotonia, and emotional lability, can result in long-term deficits following resection of posterior fossa (PF) @PHENOTYPICFEATURE$.	false
+0efd8b4923684720bc21bb775e718adbe36a83f6	Post-operative pediatric cerebellar mutism syndrome (@DISEASE$), characterized by mutism, ataxia/hypotonia, and emotional lability, can result in long-term deficits following resection of posterior fossa (PF) @PHENOTYPICFEATURE$.	false
+2f273f1082e3ae4b88eb46ca82317c6b15772254	Post-operative pediatric cerebellar mutism syndrome (CMS), characterized by mutism, @DISEASE$/hypotonia, and emotional lability, can result in long-term deficits following resection of posterior fossa (PF) @PHENOTYPICFEATURE$.	false
+4e82665bb1c261949b75b320327ae3dadf37a41a	Post-operative pediatric cerebellar mutism @DISEASE$ (CMS), characterized by mutism, ataxia/hypotonia, and emotional lability, can result in long-term deficits following resection of posterior fossa (PF) @PHENOTYPICFEATURE$.	false
+62edc6390a068d2e5555742d22f27dd4158d51e3	The postoperative cerebellar mutism syndrome (@DISEASE$), consisting of diminished speech output, hypotonia, @PHENOTYPICFEATURE$, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa tumors.	has_symptom
+629fb59e1a8041070caeff4cee9582a3cc58405a	The postoperative cerebellar mutism @DISEASE$ (CMS), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa @PHENOTYPICFEATURE$.	false
+bc18d1c6faa233d38b46de03b2b005a81e4a4488	The postoperative cerebellar mutism syndrome (@DISEASE$), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa @PHENOTYPICFEATURE$.	false
+ccb1e5c92e715fea3e77f3b84d4b645f588d4b2c	The postoperative cerebellar mutism syndrome (CMS), consisting of diminished speech output, hypotonia, @DISEASE$, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa @PHENOTYPICFEATURE$.	false
+0eb4a978069042eafa3ea32870a06e30a371c8d9	The postoperative cerebellar @DISEASE$ syndrome (CMS), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with medulloblastoma and occasionally after removal of other posterior fossa @PHENOTYPICFEATURE$.	false
+4e3e1c6ef00a8f053362cb008c4f14eadda7f402	The postoperative cerebellar mutism syndrome (CMS), consisting of diminished speech output, hypotonia, ataxia, and emotional lability, occurs after surgery in up to 25% of patients with @DISEASE$ and occasionally after removal of other posterior fossa @PHENOTYPICFEATURE$.	false
+ddb9825778ce67944fc3c458df841e54e0a60110	Analysis was undertaken comparing impact of tumor location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative @PHENOTYPICFEATURE$, and presence of cerebellar mutism syndrome (@DISEASE$) on ataxia and physical function scores.	has_symptom
+e992b841884a34040eab4d4fc186bcf4020f0769	Analysis was undertaken comparing impact of tumor location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism syndrome (@DISEASE$) on @PHENOTYPICFEATURE$ and physical function scores.	has_symptom
+245f6dd57c2ecde668ecb781bf1ec38127e71511	Analysis was undertaken comparing impact of tumor location, @PHENOTYPICFEATURE$ histology, adjuvant treatment, age at diagnosis, presence of preoperative @DISEASE$, and presence of cerebellar mutism syndrome (CMS) on ataxia and physical function scores.	false
+48a366371930f16aea3b11ea2994d2352bc2dd5d	Analysis was undertaken comparing impact of @PHENOTYPICFEATURE$ location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative @DISEASE$, and presence of cerebellar mutism syndrome (CMS) on ataxia and physical function scores.	false
+56629bbe8dd226ff90d93c601fc03e88d79364a4	Analysis was undertaken comparing impact of tumor location, @PHENOTYPICFEATURE$ histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism @DISEASE$ (CMS) on ataxia and physical function scores.	false
+c0a7cdfc9a6c48780abaca2ff7029eefdad4e3c7	Analysis was undertaken comparing impact of @PHENOTYPICFEATURE$ location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar @DISEASE$ syndrome (CMS) on ataxia and physical function scores.	false
+c681e599e3fe949f545e237db2dfef77d264eadb	Analysis was undertaken comparing impact of @PHENOTYPICFEATURE$ location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism @DISEASE$ (CMS) on ataxia and physical function scores.	false
+8b8bb8d56e590376717487325adfba2580a50034	Analysis was undertaken comparing impact of @PHENOTYPICFEATURE$ location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism syndrome (CMS) on @DISEASE$ and physical function scores.	false
+fc12da93e20d1d948b209f142a7e9d9ce6c72514	Analysis was undertaken comparing impact of tumor location, @PHENOTYPICFEATURE$ histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism syndrome (@DISEASE$) on ataxia and physical function scores.	false
+0820141cb80234be9270410432d4c455019abed2	Analysis was undertaken comparing impact of @PHENOTYPICFEATURE$ location, tumor histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism syndrome (@DISEASE$) on ataxia and physical function scores.	false
+a6c0cbe7ee86bae078b8bd547b91948c9fb2da9f	Analysis was undertaken comparing impact of tumor location, @PHENOTYPICFEATURE$ histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar mutism syndrome (CMS) on @DISEASE$ and physical function scores.	false
+e4d8ad78570e9bb91707f5efd4b96b3a9db159a1	Analysis was undertaken comparing impact of tumor location, @PHENOTYPICFEATURE$ histology, adjuvant treatment, age at diagnosis, presence of preoperative ataxia, and presence of cerebellar @DISEASE$ syndrome (CMS) on ataxia and physical function scores.	false
+b1c63c512e2987dfa8c6f2db21e7ec80e25a2c21	Cerebellar mutism syndrome (@DISEASE$) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa tumor; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+945f04329bb24be486c4781d4fb7affa292eaa67	Cerebellar @DISEASE$ syndrome (CMS) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia.	false
+4c48ff3395b9eeabb2d0a4ae28fba75e5e0f4cb2	Cerebellar mutism @DISEASE$ (CMS) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia.	false
+78cb43a9dbe9eb2904c6ff8203f9c5e59fff0c8b	Cerebellar mutism syndrome (@DISEASE$) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia.	false
+7449bfed056fde66dfde7cb5563cec90cf13c1a1	Cerebellar mutism syndrome (CMS) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and @DISEASE$.	false
+848968282ba456137ec1622fa6eae09af1987f05	Higher @PHENOTYPICFEATURE$ and lower physical function scores were demonstrated in children with medulloblastoma and midline tumors and those diagnosed with @DISEASE$.	has_symptom
+a5ce63e3fa32b1a8eebc51569aac2d6f5fc24626	Higher ataxia and lower physical function scores were demonstrated in children with @DISEASE$ and midline @PHENOTYPICFEATURE$ and those diagnosed with CMS.	false
+8e5d5bc687415c8d2bc81caf3660e0b5cbb0866b	Higher ataxia and lower physical function scores were demonstrated in children with medulloblastoma and midline @PHENOTYPICFEATURE$ and those diagnosed with @DISEASE$.	false
+0e3014ae84fd6edaeb16a35565129b1d0527e276	Higher @DISEASE$ and lower physical function scores were demonstrated in children with medulloblastoma and midline @PHENOTYPICFEATURE$ and those diagnosed with CMS.	false
+8fd6a1ccab6120497153aa4f9d7e41ca3ea99bb2	All cases with @DISEASE$ accompanied by @PHENOTYPICFEATURE$.	has_symptom
+b1c63c512e2987dfa8c6f2db21e7ec80e25a2c21	Cerebellar mutism syndrome (@DISEASE$) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa tumor; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+945f04329bb24be486c4781d4fb7affa292eaa67	Cerebellar @DISEASE$ syndrome (CMS) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia.	false
+4c48ff3395b9eeabb2d0a4ae28fba75e5e0f4cb2	Cerebellar mutism @DISEASE$ (CMS) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia.	false
+78cb43a9dbe9eb2904c6ff8203f9c5e59fff0c8b	Cerebellar mutism syndrome (@DISEASE$) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and ataxia.	false
+7449bfed056fde66dfde7cb5563cec90cf13c1a1	Cerebellar mutism syndrome (CMS) is a unique postoperative syndrome typically arising 1 to 2 days after resection of a midline posterior fossa @PHENOTYPICFEATURE$; it consists of diminished speech progressing to mutism, emotional lability, hypotonia, and @DISEASE$.	false
+27da289256e8ae3bc333dc8de3a17aca2f4677aa	Druggable targets in pediatric @DISEASE$: Molecular and drug sensitivity studies in xenograft and ex vivo @PHENOTYPICFEATURE$ cell culture to identify agents for therapy.	has_symptom
+e76bf804459391095f0168180ea1a4c8db450e9c	We present here a case of a patient with @DISEASE$, PPV, and melanocytic @PHENOTYPICFEATURE$ in the spinal cord and retroperitoneum, which were treated surgically.	has_symptom
+c2e0c3d41cf164bd21694787cd451dc077e7f789	Multiple subtypes of melanocytic @PHENOTYPICFEATURE$ with distinctive features of @DISEASE$ and PPV can develop simultaneously, mimicking malignant melanoma.	has_symptom
+5a867990b126620c8b741996c1a35240174f2187	RNA in colon tumors versus @DISEASE$ may be the result of an altered pattern of differentiation, whereas the increase of the 1.7-kb RNA in @PHENOTYPICFEATURE$ may represent an early marker of colon neoplasia.	has_symptom
+cbdc15a05be31e7efd740371acb994294316b561	RNA in colon tumors versus @DISEASE$ may be the result of an altered pattern of differentiation, whereas the increase of the 1.7-kb RNA in tumors may represent an early marker of colon @PHENOTYPICFEATURE$.	has_symptom
+97012ca56a839672545840a8eb0861bcb995c530	A 28-month female with a clinical diagnosis of @DISEASE$ and numerous intracranial abnormalities (including a right choroid plexus tumor and left hemimegalencephaly) presented with a rapidly expanding @PHENOTYPICFEATURE$ in the left occipital cerebrum.	has_symptom
+0f2db8ee8ab74f4f1045d1c557a7213b6a79cbdc	Two infants with area postrema @PHENOTYPICFEATURE$ and another with @DISEASE$ and pernicious vomiting also studied.	has_symptom
+142f061e7010082d04da67898195d8eb2ff1a725	Among genes with the same expression pattern in both strains after @DISEASE$, we observed robust upregulation of Ttr gene coding transthyretin involved in amyloidosis, @PHENOTYPICFEATURE$, stroke-like episodes, or dementia.	has_symptom
+419f44d3bc10473d24a3f9bd2dcc7b7a59398dfe	In the RLD group, increased duration of convulsive motor seizures (@DISEASE$, Racine scale stage ?3) with a significant reduction in mortality from 21% to 6% and decreased variability in @PHENOTYPICFEATURE$ severity between animals/batches were observed when compared to the SHD group.	has_symptom
+fd4d16e059db6b858e2b6fe264d1f7aebb21c002	In the RLD group, increased duration of convulsive @PHENOTYPICFEATURE$ (CMS, Racine scale stage ?3) with a significant reduction in mortality from 21% to 6% and decreased variability in @DISEASE$ severity between animals/batches were observed when compared to the SHD group.	false
+de582d06546f6cbd80c54f9513420dc08eb5286f	In the RLD group, increased duration of convulsive @PHENOTYPICFEATURE$ (@DISEASE$, Racine scale stage ?3) with a significant reduction in mortality from 21% to 6% and decreased variability in seizure severity between animals/batches were observed when compared to the SHD group.	false
+86ed9a3c8d100f0811d983a04d3c9ad00c95fc61	Apnoea should be carefully distinguished from @PHENOTYPICFEATURE$; a @DISEASE$ should be taken into account early to start appropriate therapy.	has_symptom
+ccacf5c3b6461506ca1d14f09b9dc1c8bc792a3c	@DISEASE$ is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), @PHENOTYPICFEATURE$ (ID), and excessive neurofibromas.	has_symptom
+8088b61dc37ed6c136a449586882a44e3dff0db2	@DISEASE$ is more severe than NF1 caused by gene mutations, with individuals exhibiting @PHENOTYPICFEATURE$, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas.	false
+547436ad616a313a299208ace607195a4f6bafaf	NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting @PHENOTYPICFEATURE$, developmental delay (DD), @DISEASE$ (ID), and excessive neurofibromas.	false
+a8be8f8ffb35506290ae2125f4c7cbc264c4f271	@DISEASE$ should be considered in the differential diagnosis of children presenting with @PHENOTYPICFEATURE$ and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as mental disability.	has_symptom
+42bc87b2ee7ad2f6660cf492e0c2e97300d36aac	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with @PHENOTYPICFEATURE$ and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of @DISEASE$ such as mental disability.	has_symptom
+829d1e0ffccf7ee2a41bc81fb80e4b32f24ec8fb	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with @DISEASE$ and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as @PHENOTYPICFEATURE$.	false
+f2398da5ef1d2f6acd70291f43ec70e2a7474aa3	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of @DISEASE$ such as @PHENOTYPICFEATURE$.	false
+74bf9905e09a1477ea2f280536546b9ed2a7f861	@DISEASE$ should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as @PHENOTYPICFEATURE$.	false
+f123472bc4b5d7e2f2fc7896fde63a7f814e6e66	@DISEASE$ is a rare autosomal-dominant condition characterized by facial dysostosis, severe @PHENOTYPICFEATURE$ with cone-shaped epiphyses, and short stature.	has_symptom
+ea78e2a58adfdcc3f59436daec73618a6a03f810	Acrodysostosis is a rare autosomal-dominant condition characterized by facial @DISEASE$, severe brachydactyly with cone-shaped epiphyses, and @PHENOTYPICFEATURE$.	false
+88571170878e0e0b67623a552e0f8b8d43a58941	Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe @DISEASE$ with cone-shaped epiphyses, and @PHENOTYPICFEATURE$.	false
+ad7eb57d61d7b8b1faecb7e3253b240f0e603ea5	@DISEASE$ is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and @PHENOTYPICFEATURE$.	false
+93b783a69c7b7baba2add8654b963b984585cef9	Acrodysostosis is a rare autosomal-dominant condition characterized by @DISEASE$ dysostosis, severe brachydactyly with cone-shaped epiphyses, and @PHENOTYPICFEATURE$.	false
+faa1eb7483df1236e72218c59389e73f1121a25a	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @PHENOTYPICFEATURE$, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	has_symptom
+3d60a796c993d58eb74ffeee8924c39ca633d0eb	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of @PHENOTYPICFEATURE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+727eb4e97762c16d79ff09bb4eb96a1a43f27bc0	Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @DISEASE$, midfacial hypoplasia, and short stature, varying degrees of @PHENOTYPICFEATURE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+1853029393bfa1c395b9c9ff3a4d354db4dd5785	Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @DISEASE$, midfacial hypoplasia, and @PHENOTYPICFEATURE$, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+437848566b1a35d896f8a45b5f171334f46ae1ba	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and @PHENOTYPICFEATURE$, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+4dd621d5bcf2639e4658a9fa8681209b59605d39	Acrodysostosis is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe @DISEASE$, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+77f4e437013b50b4f9e7dec95972b5a3e2311646	@DISEASE$ is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+793ad1dda34d953e077e32d2f6a97ab6baca4a00	@DISEASE$ is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe @PHENOTYPICFEATURE$, and varying degrees of hearing loss and mental retardation.	has_symptom
+6b0f2655a897bad78ded14239d7158dc759a0574	@DISEASE$ is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and @PHENOTYPICFEATURE$.	false
+2bf940738b14f26cf7db6eb6bf14c136f095feaf	Acrodysostosis is an uncommon skeletal dysplasia associated with @DISEASE$ hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and @PHENOTYPICFEATURE$.	false
+57d3a1889d98825b1c6cd641a38aadfbae3da14a	Acrodysostosis is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of @DISEASE$ and mental retardation.	false
+2fb92b45cf369cd0edc167cefec5c1337029dee5	Acrodysostosis is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe @DISEASE$, and varying degrees of hearing loss and mental retardation.	false
+bca40d4104c146ff11abc0c7c98ba6ae09e51e1a	Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+227dd7bcb75b249d2896aa4defd051d33cbbe5de	Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe @DISEASE$, and varying degrees of hearing loss and @PHENOTYPICFEATURE$.	false
+7f7db38970ede9b7151dfae931c47e32873348f6	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation.	false
+1e2d04d47bf0c4498979671b5f94842c30b33ad1	Acrodysostosis is an uncommon @PHENOTYPICFEATURE$ associated with @DISEASE$ hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation.	false
+a9e5933db96db3d14553c51925a158ff96efd012	We report on a Mexican patient with @PHENOTYPICFEATURE$, cleft lip and palate, and facial anomalies characteristic of @DISEASE$ described in 1991 by Kapur and Toriello in two sibs.	has_symptom
+3a5765d34df4ddcf54bdc426c4111de70bd655be	A young male patient affected with @DISEASE$ and concomitant @PHENOTYPICFEATURE$, myoclonic jerks and epileptic seizures is reported.	has_symptom
+64cc832c0899ea639486a34cf22853c03753b73f	A young male patient affected with @DISEASE$ and concomitant mental deterioration, myoclonic jerks and @PHENOTYPICFEATURE$ is reported.	false
+a281d0a3e5782b38f19d7efc7ef276bbee456b30	A young male patient affected with Lafora's disease and concomitant @DISEASE$, myoclonic jerks and @PHENOTYPICFEATURE$ is reported.	false
+4bb8c53454516c23ada3ea4a9e1c52abf6b7bf9e	A young male patient affected with Lafora's disease and concomitant @DISEASE$, @PHENOTYPICFEATURE$ and epileptic seizures is reported.	false
+f560e95a0cbb20852b168c2d662064322b733267	A young male patient affected with @DISEASE$ and concomitant mental deterioration, @PHENOTYPICFEATURE$ and epileptic seizures is reported.	false
+a3a12e86ae2393ae9dece5eb04997dbeb24f5a72	1) Patients with malignancy, particularly colonic or hematologic, and patients with @DISEASE$ who develop signs and symptoms of sepsis, especially with associated findings of @PHENOTYPICFEATURE$ or pain in an extremity, should be treated for possible clostridial infection.	has_symptom
+ec9d1a57038dc05236f29d9a4080430c9bfdf10d	@DISEASE$, congenital chloride diarrhea, Pendred syndrome and @PHENOTYPICFEATURE$, respectively), demonstrating their essential and non-redundant functions in many tissues.	has_symptom
+1253a2ea98d38ab0f22b6cf0d21515e39ca8692c	Three rare recessive diseases in humans, namely @DISEASE$ (cartilage disorder resulting in growth retardation), congenital chloride diarrhoea (anion exchange disorder of the intestine) and Pendred syndrome (@PHENOTYPICFEATURE$ with thyroid disorder) turned out to be caused by the highly related genes SLC26A2 (first called DTDST), SLC26A3 (first called CLD or DRA) and SLC26A4 (first called PDS), respectively.	has_symptom
+20082e6b99ffdb4d982cf2661940d384789a219e	In the human, their physiological relevance was highlighted with the discovery of pathogenic mutations in several Slc26 transporters that lead to distinctive clinical disorders (Pendred syndrome, @PHENOTYPICFEATURE$, @DISEASE$, congenital chloride diarrhoea) that are related to the specific distribution of these genes.	has_symptom
+1a99c3b2c5b3567e4c747b1291f3c1f38a11d89f	The region has also been linked to at least four other genetic diseases, Treacher Collins syndrome, @DISEASE$, limb-girdle muscular dystrophy, and an autosomal dominant @PHENOTYPICFEATURE$, by linkage analysis.	has_symptom
+30c37b20eeda03145acd700c31612d4ef25761eb	This is also the general region into which several disease genes have been mapped, including @DISEASE$, Treacher Collins syndrome, hereditary startle disease, the myeloid disorders that are associated with the 5q-syndrome, autosomal-dominant forms of hereditary @PHENOTYPICFEATURE$, and limb girdle muscular dystrophy.	has_symptom
+87c1d70cceec30842beaa5a0aba11d70dcd39571	Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (@DISEASE$, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia); (ii) SLC26A3 is associated with congenital chloride diarrhea; (iii) SLC26A4 is associated with Pendred syndrome and non-syndromic deafness, DFNB4; and (iv) SLC26A5 is defective in non-syndromic @PHENOTYPICFEATURE$.	has_symptom
+489915c7ef25c4cc282e7a28bca99ba513ee12ab	Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (@DISEASE$, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia); (ii) SLC26A3 is associated with congenital chloride diarrhea; (iii) SLC26A4 is associated with Pendred syndrome and non-syndromic @PHENOTYPICFEATURE$, DFNB4; and (iv) SLC26A5 is defective in non-syndromic hearing impairment.	has_symptom
+c24d3951e55dbdc46ac4cbe6577408b53248a809	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	has_symptom
+307faece92bc9845a5a05eeb7bc75283890965ce	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+7ecdf8cda7dce7ff4e3d52425497c23f014c88bb	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+9e9e40fda96516c881c9a7471b00464d6e6e75e8	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+83db851e268dcfd7be72d3ba7eccb043fff7c728	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and @DISEASE$, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+f759deb8d9b248be11c0c87cd37645714d07ffe5	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+316809e6385c49731d288db8dce426fc2de94f1b	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+c3f1da211fa8e059add968df8011e12f572f768d	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+ba4e366f5ed7b7c3e68d0e5354322af48857ffc4	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+0f6a21af977fe696da6a456656bad066b8120e6c	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic @DISEASE$.	false
+e33acfed8c6966b4f30f279c2f2661e0cbc62371	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, @DISEASE$, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+83e263a0073750c74b2ddc340cfa0e303d35ba5b	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+31fc084be7fb312729e7bb7e684936c946498117	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+323260759bb18d6ad18e4e4af5a50b5eaaa8bc90	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic @DISEASE$, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+a91df41a5302286d347dc403580bbdf4a0eb55b8	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+af436b31128ba3c78a2859b77f5ed5829b917dc7	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy @DISEASE$, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+8e644b18409f545998f4aed51770d8f1c9bc10db	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers @DISEASE$, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+4d764075600ff1af6c331d0d0078bff990f9f50e	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+5ec12340ca72bea9b5938509b14a3e4ce18e8f65	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, @DISEASE$, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+bcb830f90a6fb673cb87a250733800646e0c1ef6	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes @DISEASE$, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+096e8b6028db2db9a00fd4a86853049096e421b7	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and @DISEASE$ syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+7a857631b774201ffb86215f3f644d3f18b2eb85	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion @DISEASE$, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+7248039d258cb6e9ff7475e48d2a4248b61bfb23	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, @DISEASE$ syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's ataxia, and multiple systemic lipomatosis.	false
+dc68d09a760f562aa7e10574b0d360cc0b578bfd	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa @DISEASE$, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic lipomatosis.	false
+3bfa392d01b5c6d5b8beba4420d04209b4f7ac1a	Syndromic MCDs with CNS involvement include mitochondrial encephalomyopathy, lactacidosis, stroke-like episodes syndrome, myoclonic epilepsy and ragged red fibers syndrome, mitochondrial neuro-gastrointestinal encephalomyopathy syndrome, neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome, mitochondrial depletion syndrome, Kearns-Sayre syndrome, and Leigh syndrome, Leber's hereditary optic neuropathy, Friedreich's @PHENOTYPICFEATURE$, and multiple systemic @DISEASE$.	false
+9e10d02c93cbe40633ca374094a104d107e850d4	@DISEASE$: @PHENOTYPICFEATURE$ after 7 years of satisfactory metabolic control.	has_symptom
+e6cd2b66892b7f18a60e028a67eb589f619c7fe2	@DISEASE$ (ARPA) is a rare @PHENOTYPICFEATURE$, characterized by recurrent episodes of vertigo, cerebellar ataxia, and nystagmus, which has recently been characterized genetically.	has_symptom
+a60caff1acbaa5bc55a03a6134ee6828a3d8df55	@DISEASE$ (ARPA) is a rare movement disorder, characterized by recurrent episodes of vertigo, @PHENOTYPICFEATURE$, and nystagmus, which has recently been characterized genetically.	false
+f8465f5919b33c3d42979849a7a34d28b0c80b8c	Acetazolamide-responsive periodic ataxia (ARPA) is a rare @DISEASE$, characterized by recurrent episodes of vertigo, @PHENOTYPICFEATURE$, and nystagmus, which has recently been characterized genetically.	false
+503ac1096cc78437d04195adf2c7253cae638e7f	Acetazolamide-responsive periodic ataxia (ARPA) is a rare @DISEASE$, characterized by recurrent episodes of @PHENOTYPICFEATURE$, cerebellar ataxia, and nystagmus, which has recently been characterized genetically.	false
+e9a32b3cdf342e4116cb773b49472d1f388743c4	@DISEASE$ (ARPA) is a rare movement disorder, characterized by recurrent episodes of @PHENOTYPICFEATURE$, cerebellar ataxia, and nystagmus, which has recently been characterized genetically.	false
+f77ca80daa6c95a066cc96ad9bbe4bae55758591	Mutations in the potassium channel gene Kv1.1 are associated with human @DISEASE$ (EA-1) syndrome characterized by @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+76f4ed3c065ae561b77e9ee3c673037f1a615bfc	@DISEASE$ is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, @PHENOTYPICFEATURE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	has_symptom
+fa542fd6bafb81431f849a8a6847975ee8b8f49f	Cohen syndrome is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, @DISEASE$, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+0afda3e9e16b1ab492afaa2f351dcbb8c4f9378f	Cohen syndrome is an @DISEASE$ characterized by myopia, retinal dystrophy, neutropenia, @PHENOTYPICFEATURE$, microcephaly, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+70b74947b9db41ed4e778a15a2b161f83c865249	Cohen syndrome is an @DISEASE$ characterized by myopia, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+78a8d494b10a866d3ca67ee31f37202fbe22b2ea	Cohen syndrome is an autosomal recessive disease characterized by myopia, @DISEASE$, neutropenia, @PHENOTYPICFEATURE$, microcephaly, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+86af26d18cfa31da78b93b18d7924cb41c3c110c	Cohen syndrome is an autosomal recessive disease characterized by @DISEASE$, retinal dystrophy, neutropenia, @PHENOTYPICFEATURE$, microcephaly, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+46d40159e010c93bef9c78336031cb2e2a29d312	@DISEASE$ is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+b59ca525cd6731fb2f87b72c4562fdf14468d960	Cohen syndrome is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, @PHENOTYPICFEATURE$, @DISEASE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+475f104f2af1dcaf5ef0da19ebd1e059ea3bf636	Cohen syndrome is an autosomal recessive disease characterized by myopia, @DISEASE$, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+cbcd7df28c57ed81317534bcba6645a26a074812	@DISEASE$ is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, @PHENOTYPICFEATURE$, microcephaly, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+f83f389583d0cafb3a7bd9e9b515e8faaa2e8cd6	Cohen syndrome is an autosomal recessive disease characterized by @DISEASE$, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+ada0588f9de82aef42a364314c857082f1418d8a	Reduced head size (@PHENOTYPICFEATURE$), short philtrum and small cranial base dimensions are essential features in @DISEASE$.	has_symptom
+b0ead942211255a2e3c2ff4a5d6f773375a187d9	@DISEASE$ is an autosomal recessive disorder that is characterized by mental retardation, facial dysmorphism, @PHENOTYPICFEATURE$, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia.	has_symptom
+c2ca6da6f16ff43bc0aa8648b383b0f4ace09d93	@DISEASE$ is an autosomal recessive disorder that is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, microcephaly, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia.	false
+ec66b7d4073be00c93b38b36c9c35515bdeafd82	Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia.	false
+c8b261e6598302c023999ce24fad07e14a7801b0	Cohen syndrome is an autosomal recessive disorder that is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, microcephaly, retinal dystrophy, truncal @DISEASE$, joint laxity and intermittent neutropenia.	false
+f24c55d89d4db8d492789c18cd11b7175f5a9a7f	Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, truncal obesity, joint laxity and intermittent neutropenia.	false
+d207f7b06fcfd53800c90053bfe0c0b58516d4e1	Cohen syndrome is an autosomal recessive disorder that is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, @DISEASE$, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia.	false
+3fe41a9ad4fe29c5f92f0050c94b8d01fed5a790	Cohen syndrome is an autosomal recessive disorder that is characterized by mental retardation, @PHENOTYPICFEATURE$, microcephaly, retinal dystrophy, truncal @DISEASE$, joint laxity and intermittent neutropenia.	false
+f28fbcbddcdb783c4a4b6862952105f9651a641a	Cohen syndrome is an autosomal recessive disorder that is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, microcephaly, @DISEASE$, truncal obesity, joint laxity and intermittent neutropenia.	false
+6c8503dc0cc753be97860588f1ff9a6f3e610cb7	@DISEASE$ is an autosomal recessive disorder that is characterized by mental retardation, @PHENOTYPICFEATURE$, microcephaly, retinal dystrophy, truncal obesity, joint laxity and intermittent neutropenia.	false
+c804d7d82042202048b8bc81494b90e095764165	@DISEASE$ is an uncommon autosomal recessive disorder whose diagnosis is based on the clinical picture of nonprogressive psychomotor retardation and @PHENOTYPICFEATURE$, characteristic facial features, retinal dystrophy, and intermittent neutropenia.	has_symptom
+63a2510a9cc159d856036c8fc024c92fbf5379bf	Homozygosity mapping in a family with @PHENOTYPICFEATURE$, mental retardation, and short stature to a @DISEASE$ region on 8q21.3-8q22.1:	has_symptom
+86e09dc365141e22fd6e3a342059fd822288785b	Homozygosity mapping in a family with @DISEASE$, @PHENOTYPICFEATURE$, and short stature to a Cohen syndrome region on 8q21.3-8q22.1:	false
+60feb2db1cbffd8ea53773136d6bcf9a9f6f6ea4	Homozygosity mapping in a family with microcephaly, mental retardation, and @PHENOTYPICFEATURE$ to a @DISEASE$ region on 8q21.3-8q22.1:	false
+2358a50c9dcd2e62232e1d67e1f96a58b9991be2	Homozygosity mapping in a family with microcephaly, @PHENOTYPICFEATURE$, and short stature to a @DISEASE$ region on 8q21.3-8q22.1:	false
+aea38d457a4b98bbd0dd91eac5a8f409d62c0948	Homozygosity mapping in a family with @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$ to a Cohen syndrome region on 8q21.3-8q22.1:	false
+f74848ba2aaf575dd178f6a53d56e6de9f24aa9e	VPS13B mutation causes @DISEASE$ (CS) consistent with the proband's phenotype (intellectual disability (ID), @PHENOTYPICFEATURE$, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia).	has_symptom
+12016e65c2a8473f5c935b3c25f68bef9aab79d9	VPS13B mutation causes @DISEASE$ (CS) consistent with the proband's phenotype (intellectual disability (ID), microcephaly, facial gestalt, @PHENOTYPICFEATURE$, joint hypermobility and neutropenia).	false
+cdb914d53960d3006c2fc14efb58869b9fca4d25	VPS13B mutation causes Cohen syndrome (CS) consistent with the proband's phenotype (intellectual disability (ID), microcephaly, facial gestalt, @PHENOTYPICFEATURE$, joint hypermobility and @DISEASE$).	false
+62a0be7eeeb73f08fa30e97f760633dd1864e18d	VPS13B mutation causes Cohen syndrome (CS) consistent with the proband's phenotype (intellectual disability (ID), @DISEASE$, facial gestalt, @PHENOTYPICFEATURE$, joint hypermobility and neutropenia).	false
+18d60a479b7b022a47a3aa0a0c3965e9bede9af4	@DISEASE$ is an autosomal recessive disorder characterized by mental and motor retardation, short stature, @PHENOTYPICFEATURE$, several dysmorphic features, major ocular symptoms and granulocytopenia.	has_symptom
+ef956da99dbf4e3d4b6ce9b1eb904de3ea596de0	@DISEASE$ is an autosomal recessive disorder characterized by mental and motor retardation, @PHENOTYPICFEATURE$, microcephaly, several dysmorphic features, major ocular symptoms and granulocytopenia.	false
+2a703f8071a372bbcd4deaf2dbc6da52991fa4cb	Cohen syndrome is an autosomal recessive disorder characterized by mental and motor retardation, @PHENOTYPICFEATURE$, @DISEASE$, several dysmorphic features, major ocular symptoms and granulocytopenia.	false
+b7af7fa750feea16911a7969e778d331cc006f2f	The most likely diagnosis for these siblings is the autosomal recessive @DISEASE$ of mental retardation, congenital hypotonia with Marfanoid habitus, @PHENOTYPICFEATURE$, pleasant affect, micrognathia, and open mouth with prominent incisors.	has_symptom
+f4f1a6dec41fb8ccc4d7ada56f1f49ea39b9622c	The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, @DISEASE$, pleasant affect, @PHENOTYPICFEATURE$, and open mouth with prominent incisors.	false
+35c264735e6f9aeab12339f19da689b078cf895d	The most likely diagnosis for these siblings is the autosomal recessive @DISEASE$ of @PHENOTYPICFEATURE$, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors.	false
+9fc40d2e075cb7d9239b0331f3bbb8bc2756c7f3	The most likely diagnosis for these siblings is the autosomal recessive @DISEASE$ of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, @PHENOTYPICFEATURE$, and open mouth with prominent incisors.	false
+b360a64747dd8d6d2deb89ea6ca2e233bc0e34c5	The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of @PHENOTYPICFEATURE$, congenital hypotonia with Marfanoid habitus, @DISEASE$, pleasant affect, micrognathia, and open mouth with prominent incisors.	false
+ee6aa541e4fdd164670914617f0f67e2477700ba	MRI of the brain in the @DISEASE$: a relatively large corpus callosum in patients with mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+b39bdabb2afabd4423f9cd5739afa1d74c65d5e0	MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8a64972608982f6ba1834817c617fc1dfc1a259b	MRI of the brain in the @DISEASE$: a relatively large corpus callosum in patients with @PHENOTYPICFEATURE$ and microcephaly.	false
+58c5a301d8b3e079fd83ca1e69af262f3777c718	Previously known features of the @DISEASE$ (non-progressive mental retardation, short stature, @PHENOTYPICFEATURE$, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.	has_symptom
+4787ccf72d398e53322e04ea7ed7801f6b4661c9	Previously known features of the @DISEASE$ (non-progressive mental retardation, @PHENOTYPICFEATURE$, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.	false
+f099f367636e69e431f532a29f63573b1b4a902a	Previously known features of the Cohen syndrome (non-progressive mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.	false
+7c09f73dd5fb26037d668d75eb20f2dda462c880	@DISEASE$ is a granulomatous disease of unclear etiology, which commonly presents with cough, dyspnea, chest pain, fever, @PHENOTYPICFEATURE$, arthralgias, and erythema nodosum.	has_symptom
+b05b7c68ad85cf98bbbd6b9dda2b8b40ccd2fb54	Especially in patients suffering chronic kidney graft failure the nonspecific constitutional symptoms of @DISEASE$ like fever, @PHENOTYPICFEATURE$, arthralgia and fatigue may be easily misleading.	has_symptom
+23b43b701ef75d2320e7b03db1bee951b1e0af50	Predominant abnormalities were delayed milestones (59, 88.1%), @DISEASE$ (59, 86.5%), spasticity (50, 74.6%), @PHENOTYPICFEATURE$ (42, 61.7%), and quadriparesis (21, 31.3%).	has_symptom
+615d23ff540b1916ed16196bf8f149d3aeed4940	Predominant abnormalities were delayed milestones (59, 88.1%), hyperreflexia (59, 86.5%), @PHENOTYPICFEATURE$ (50, 74.6%), @DISEASE$ (42, 61.7%), and quadriparesis (21, 31.3%).	false
+441f179f79ff637fb16fc99f38d3819327f77bb3	Predominant abnormalities were delayed milestones (59, 88.1%), @DISEASE$ (59, 86.5%), @PHENOTYPICFEATURE$ (50, 74.6%), microcephaly (42, 61.7%), and quadriparesis (21, 31.3%).	false
+c9b6e66ea5f5c7af633ae7fc974583994c87d484	Principal features are @PHENOTYPICFEATURE$, facial disproportionality, cutis girata, hypertonia/spasticity, @DISEASE$, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	has_symptom
+68ca220360f31e45dcfc5bf752b8c0269ab5d4e1	Principal features are @DISEASE$, facial disproportionality, cutis girata, hypertonia/@PHENOTYPICFEATURE$, hyperreflexia, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	false
+2b80d1ecaed9a6370503a0e5d17a1483d7cb002e	Principal features are microcephaly, facial disproportionality, cutis girata, @PHENOTYPICFEATURE$/spasticity, @DISEASE$, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	false
+a335e567f16c4d9637afff45037e86f04d843519	Principal features are @DISEASE$, facial disproportionality, cutis girata, @PHENOTYPICFEATURE$/spasticity, hyperreflexia, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	false
+4bfbaec2c678cb0f7dedc6fbccf760e8c19e6354	Principal features are microcephaly, facial disproportionality, cutis girata, hypertonia/@PHENOTYPICFEATURE$, @DISEASE$, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	false
+f3a8100ca527aa1d98d89cc7c4fdd3890b8faa14	Physical exam at 17 years of age was notable for @PHENOTYPICFEATURE$, short stature, lower extremity weakness and atrophy with @DISEASE$, spastic diplegia, multiple dental caries and episodes of rhabdomyolysis.	has_symptom
+1c23974de543868b6e318d6d2ce647d4445e57d4	Physical exam at 17 years of age was notable for microcephaly, @PHENOTYPICFEATURE$, lower extremity weakness and atrophy with @DISEASE$, spastic diplegia, multiple dental caries and episodes of rhabdomyolysis.	false
+2372f9be975192912965a7a118271b14eaedbdf3	Physical exam at 17 years of age was notable for microcephaly, @PHENOTYPICFEATURE$, lower extremity weakness and atrophy with hyperreflexia, @DISEASE$, multiple dental caries and episodes of rhabdomyolysis.	false
+03955f8b0239be458065dae1e4a0ed64916e5734	Physical exam at 17 years of age was notable for @DISEASE$, @PHENOTYPICFEATURE$, lower extremity weakness and atrophy with hyperreflexia, spastic diplegia, multiple dental caries and episodes of rhabdomyolysis.	false
+9798164deff737f4e7212c8d069b96012397f7db	We describe two brothers with severe @PHENOTYPICFEATURE$, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of @DISEASE$.	has_symptom
+cb7c4fd9db7431568c2b10563c6b2be37e11fe9f	Over the first year of life she was noted to have progressive global developmental delay, visual impairment, @PHENOTYPICFEATURE$, hypertonia, @DISEASE$, and seizures.	has_symptom
+6e12a6f16a014883a4e3985bc4226d5e2bfa1914	Over the first year of life she was noted to have progressive global developmental delay, visual impairment, @DISEASE$, @PHENOTYPICFEATURE$, hyperreflexia, and seizures.	false
+6f0b323e11eea0208978d03626e6623c00ccd0be	Over the first year of life she was noted to have progressive global developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, hypertonia, hyperreflexia, and seizures.	false
+798b92f6fa109e1af347a0d35a7b78ba9c63f51c	Over the first year of life she was noted to have progressive global developmental delay, visual impairment, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and seizures.	false
+8c10f3a047de898172b43b175ee1ccadbceb70cf	Over the first year of life she was noted to have progressive global developmental delay, @PHENOTYPICFEATURE$, microcephaly, hypertonia, @DISEASE$, and seizures.	false
+c9c07b89aaecdbb6634e82290d18d64f4cfe3fab	Over the first year of life she was noted to have progressive global developmental delay, visual impairment, @DISEASE$, hypertonia, hyperreflexia, and @PHENOTYPICFEATURE$.	false
+ee874e34f3cddfc2714bbb80153763ac4601b34a	Over the first year of life she was noted to have progressive global developmental delay, visual impairment, microcephaly, hypertonia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f4641e33bbc40a5544e8daaf37daeb9203281c05	All of the patients presented with severe to profound global developmental delay and postnatal-onset @PHENOTYPICFEATURE$; they had seizures, hypotonia, @DISEASE$, and hyperkinesis.	has_symptom
+c26da41d93cb686dd68909f522f7bd046404015d	All of the patients presented with severe to profound global developmental delay and postnatal-onset @DISEASE$; they had @PHENOTYPICFEATURE$, hypotonia, hyperreflexia, and hyperkinesis.	false
+2bdb4f149b929ed86fd5bcf5051e8b5fe2e89b1a	All of the patients presented with severe to profound global developmental delay and postnatal-onset microcephaly; they had @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, and hyperkinesis.	false
+b7fc93beb32564ec70f32b7e2db23a32a81d262e	Clinical manifestations included @PHENOTYPICFEATURE$, mental retardation, spasticity with @DISEASE$, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	has_symptom
+ce66c888d8757ef029da96ea894f9351c2b7c053	Clinical manifestations included microcephaly, @PHENOTYPICFEATURE$, spasticity with @DISEASE$, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+1d5a64b47d4528e7f5a29e5f867628c4c4b664db	Clinical manifestations included microcephaly, mental retardation, spasticity with @DISEASE$, cerebellar dysfunction, @PHENOTYPICFEATURE$, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+b3e854a21b17d1b1317748249f26179b1931daec	Clinical manifestations included microcephaly, mental retardation, spasticity with @DISEASE$, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and @PHENOTYPICFEATURE$.	false
+3cfcf04bb5406e2344bc43a82b3b5dfff5b86371	Clinical manifestations included microcephaly, mental retardation, @PHENOTYPICFEATURE$ with @DISEASE$, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+7d9e1dfce58f888329692d2fa41ed7b66d04b090	Clinical manifestations included @DISEASE$, @PHENOTYPICFEATURE$, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+325f7e7f23678b16e9a83fde213b207b43bf271b	Clinical manifestations included @DISEASE$, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, @PHENOTYPICFEATURE$, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+9aa8aeeac72ed0c6b5dec006fe0babbae96070a5	Clinical manifestations included @DISEASE$, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and @PHENOTYPICFEATURE$.	false
+afb110c3740687a0c329c85042c096068c868771	Clinical manifestations included @DISEASE$, mental retardation, @PHENOTYPICFEATURE$ with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+8008b916b7bc3e4d2bc6a80c57d5748db5a639bf	He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and @DISEASE$), short stature, and @PHENOTYPICFEATURE$, which are features associated with DSC.	has_symptom
+b7786a150a206f9fdacdccecc6bcafd8fe3d9c15	He also displayed severe neurologic abnormalities (intellectual disability, @PHENOTYPICFEATURE$, altered speech, and hyperreflexia), short stature, and @DISEASE$, which are features associated with DSC.	false
+9d9843e21ad5a509abb731ecb296d3d73a434f71	He also displayed severe neurologic abnormalities (intellectual disability, @PHENOTYPICFEATURE$, altered speech, and @DISEASE$), short stature, and microcephaly, which are features associated with DSC.	false
+c275b5e0b3d8a4a40eda2ab49d83365a9183ee94	He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), @PHENOTYPICFEATURE$, and @DISEASE$, which are features associated with DSC.	false
+23b984f54e8b9a77e5a65e813de50e1526602bf9	He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and @DISEASE$), @PHENOTYPICFEATURE$, and microcephaly, which are features associated with DSC.	false
+7a687bf723b51c08d9dcb28f16c665b037b33300	He also displayed severe @PHENOTYPICFEATURE$ (intellectual disability, ataxia, altered speech, and @DISEASE$), short stature, and microcephaly, which are features associated with DSC.	false
+fe89c7cb5f42888fc53dd7de7a4b4f5d75b8421a	He also displayed severe @PHENOTYPICFEATURE$ (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and @DISEASE$, which are features associated with DSC.	false
+27f59b59f0d8c29b9a9d70e3e6573fea34f7e62a	A syndrome of @PHENOTYPICFEATURE$ and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant @DISEASE$.	has_symptom
+5f3394f835cecb7679ab74ec63a14cdd6ef1d4bb	A syndrome of microcephaly and retinal pigmentary abnormalities without @PHENOTYPICFEATURE$ in a family with coincidental autosomal dominant @DISEASE$.	false
+67974ced5e66276b30d72e59753d55d269ef749c	A syndrome of @DISEASE$ and retinal pigmentary abnormalities without @PHENOTYPICFEATURE$ in a family with coincidental autosomal dominant hyperreflexia.	false
+46bdf403ca2bbd88f5f094f4bfa7d9d364b2fdff	A syndrome of microcephaly and retinal @DISEASE$ abnormalities without @PHENOTYPICFEATURE$ in a family with coincidental autosomal dominant hyperreflexia.	false
+35cb491c59c2349bfa2003d954b027445f72c8ff	Reciprocal phenotypic characteristics of predominant hypo- versus @DISEASE$ and macro- versus @PHENOTYPICFEATURE$ may reflect opposite neurobiological abnormalities with converging effects causing the functional impairments shared between 16p11.2	has_symptom
+c33b9ec04700b76cd00d4bee52b9c7a1085af7f9	The communication profiles of individuals with Down's syndrome (DS), @DISEASE$ (AS) and @PHENOTYPICFEATURE$ (PDD) were investigated and contrasted.	has_symptom
+ea8559e28348ea3355df4517fa7eeb477b6003ae	Communication profiles of individuals with Down's syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+bf8f115662b830419e477a0b1fce0269ef3fc729	There was a differential effect of FGFR2 mutations in ophthalmic findings in patients with @DISEASE$, with significantly greater prevalence of @PHENOTYPICFEATURE$ in the Ser252Trp mutation compared with the Pro253Arg mutation.	has_symptom
+8a988175c6619aad81c6d59940f492c2eb6c144f	The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, @DISEASE$ and Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+3d67244c0041b326a6e760fdafb2570c71bc6656	In a 2.5-years-old male patient with non syndromic congenital @PHENOTYPICFEATURE$ and autophagic vacuoles in the muscle biopsy we identified a homozygous nonsense mutation R111X mutation in SIL1 gene, leading to early diagnosis of @DISEASE$.	has_symptom
+23593b4b27868e727f5241b9ff3942d47205f6a0	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	has_symptom
+1a075f9342d951b8f9c783a70c9dcd7b03749876	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+71417572d80d635fdb3f0127604317efe09ba17f	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @DISEASE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+dedcea3729da3567ca867847c1c6bd3f3bd4dc6c	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+15c50b7c74e84bd9220d6a420c34b1dd0fa43c6b	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, @DISEASE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+0bf18ed53d32480abf2e54da459360c35b331c2d	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @DISEASE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+4cda247415e4f433ff427020448dc8baffaad7c3	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+362cc9ca3a14547e76d79afe8cc8481462ca19ac	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+362024cd43995d25670b060c47b30f3ea911d7a9	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+78a1780eeb735d3ab2739800bd7e243621c828c9	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @DISEASE$ caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+444e40e1720769a2392279f37965be8a696be317	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @DISEASE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+a2ca39aa8edfdbe5be9b245275a9b4f69e2429e5	@DISEASE$ is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, @PHENOTYPICFEATURE$, and abdominal pain.	has_symptom
+9352e8e0f63142771905a728753c52c30f3a5605	@DISEASE$ is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, fever, and @PHENOTYPICFEATURE$.	false
+5e4e8448452e79cb360ff7540a291ea4be57da18	Whipple disease is a rare systemic illness characterized by arthralgias, @DISEASE$, weight loss, fever, and @PHENOTYPICFEATURE$.	false
+70a732a3bd2cbe8d9fd16a819f2b0a267aa3bede	Whipple disease is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a399173b057ebaee6c40fe1a6692df31dff29f43	@DISEASE$ is a rare condition characterized by migratory polyarthralgias, @PHENOTYPICFEATURE$, and chronic diarrhea.	has_symptom
+0818a46a922b034bf6cdfaee9ef6abfa9a8fc8ce	We present two cases of hemorrhagic hereditary telangiectasia (@DISEASE$) or Osler-Weber-Rendu disease which started as @PHENOTYPICFEATURE$.	has_symptom
+90c7891fd60fff48d5908a446f18325fa34cbfd5	We present two cases of hemorrhagic hereditary telangiectasia (HHT) or @DISEASE$ which started as @PHENOTYPICFEATURE$.	has_symptom
+69adfe98e368b2be6882edd89f9f1cf4b7e95bd0	Hepatic involvement in @DISEASE$ (HHT) is highly variable and may lead to severe clinical symptoms such as @PHENOTYPICFEATURE$.	has_symptom
+0c236fb2af50fa4c89496ecf48e0a831b589b486	Hepatic involvement in hereditary hemorrhagic telangiectasia (@DISEASE$) is highly variable and may lead to severe clinical symptoms such as @PHENOTYPICFEATURE$.	has_symptom
+e21c3bb656c29c7c9e1f33d843e5ea79e82ea2e5	Two patients with @DISEASE$ (HHT) who previously had only rare episodes of epistaxis had during pregnancy @PHENOTYPICFEATURE$ and signs consistent with hepatic AV shunts.	has_symptom
+9971095c2c29146dcc2c8a171851f01f6584256f	Two patients with hereditary hemorrhagic telangiectasia (@DISEASE$) who previously had only rare episodes of epistaxis had during pregnancy @PHENOTYPICFEATURE$ and signs consistent with hepatic AV shunts.	has_symptom
+35426dfcd3fe97a767049eabf3ce481d97573f35	@DISEASE$ associated with hepatic involvement and high output @PHENOTYPICFEATURE$.	has_symptom
+4e41ef7dcbfb08e6578149f0a2f446c45c8c6031	@PHENOTYPICFEATURE$ and pulmonary arteriovenous malformations in a patient with @DISEASE$ type 2.	has_symptom
+1953063d60ed94be2af12b5be39eb1f77b9a1728	[Many years of @PHENOTYPICFEATURE$ and iron deficiency anemia caused by @DISEASE$].	has_symptom
+2cedbf6f3d2772a457bdc7e8e503730ca6bfade8	The only treatment available to restore normal cardiac output in patients with @DISEASE$ (HHT) and @PHENOTYPICFEATURE$ is liver transplant.	has_symptom
+17f46da31907d003dd177954684e3acb93a7a193	The only treatment available to restore normal cardiac output in patients with hereditary hemorrhagic telangiectasia (@DISEASE$) and @PHENOTYPICFEATURE$ is liver transplant.	has_symptom
+08a75757135945b1a0819f6f901048aa7f6b6d83	We describe a 50-year-old man with a history of @DISEASE$ (Osler-Weber-Rendu disease) who presented with chest pain, atrial fibrillation, and @PHENOTYPICFEATURE$.	has_symptom
+d130dbf84a2f8c0879322adfd465c71f9429fb6c	We describe a 50-year-old man with a history of hereditary hemorrhagic telangiectasia (@DISEASE$) who presented with chest pain, atrial fibrillation, and @PHENOTYPICFEATURE$.	has_symptom
+bb97b6711f64bd0493a6011cb064051f72f9dbc7	@DISEASE$ (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and @PHENOTYPICFEATURE$.	has_symptom
+cff34d76197e36614021838bcd190db2cf372ca1	Hereditary hemorrhagic telangiectasia (@DISEASE$) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and @PHENOTYPICFEATURE$.	has_symptom
+9dc1dd9b5c6505f149fc2b7021e90e2d70187e8b	@DISEASE$ (HHT) is characterized by frequent severe bleeding, particularly @PHENOTYPICFEATURE$, and life-threatening complications including stroke, brain abscess and heart failure.	false
+a47b241227d5543ec7896e25e4aa8261539d5a2f	Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly @PHENOTYPICFEATURE$, and life-threatening complications including stroke, brain abscess and @DISEASE$.	false
+df12c8c6fc1b7828cbb1afd4ab78964863fb03e9	Hereditary hemorrhagic telangiectasia (@DISEASE$) is characterized by frequent severe bleeding, particularly @PHENOTYPICFEATURE$, and life-threatening complications including stroke, brain abscess and heart failure.	false
+741e8f811d51b858f8b8bff878d9eafbc28855c1	Liver transplantation for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+bcbf7b2ce5884b42809e428c034933cd6db97b17	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(@DISEASE$) with lissencephaly, seizures, @PHENOTYPICFEATURE$ and mental disorders.	has_symptom
+de522e2b4d490a2f89445488efe171a361f6de18	In this report, we describe a one-year-old girl of the @DISEASE$(MDS) with lissencephaly, seizures, @PHENOTYPICFEATURE$ and mental disorders.	has_symptom
+3189c8e0964fb8dd181c232165f70ed6bee109c8	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, @PHENOTYPICFEATURE$, @DISEASE$ and mental disorders.	false
+e26d05da6a6a20de0d3db587a858dffcc2d2865c	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, @PHENOTYPICFEATURE$, microcephaly and @DISEASE$.	false
+fb888d8559a56c202809ad7074bec1b77fc2da96	In this report, we describe a one-year-old girl of the @DISEASE$(MDS) with lissencephaly, @PHENOTYPICFEATURE$, microcephaly and mental disorders.	false
+7081ad2766316247cd2f689c08700ebad2402076	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(@DISEASE$) with lissencephaly, @PHENOTYPICFEATURE$, microcephaly and mental disorders.	false
+80dbc7ca96b5c4c32b3d0188cab68a93ae72a560	@DISEASE$ has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/@PHENOTYPICFEATURE$ and postaxial polydactyly.	has_symptom
+e12086fa9e988fab355d4afe2d11a473f1d748b5	Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad @DISEASE$, @PHENOTYPICFEATURE$/anophthalmia and postaxial polydactyly.	false
+1cc3b2d772578977be76fc4f8bbaf2871b6f4e81	Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, @PHENOTYPICFEATURE$/@DISEASE$ and postaxial polydactyly.	false
+c0abc18a77a2c5420c93e602857a1fa437c96d29	@DISEASE$ has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, @PHENOTYPICFEATURE$/anophthalmia and postaxial polydactyly.	false
+313da055cffe5acb089eca49a92346023e420b51	@DISEASE$ type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and @PHENOTYPICFEATURE$.	has_symptom
+5711b5a548cead34b06093af01e175e31983a0c7	Characterization of @PHENOTYPICFEATURE$ in the mouse model for @DISEASE$ 1F.	has_symptom
+118b692edcc17f5f44991dcdfb0663afd518404a	@DISEASE$ (USH) is a human hereditary disorder characterized by profound congenital deafness, retinitis pigmentosa, and @PHENOTYPICFEATURE$.	has_symptom
+093f4d35c306207cde439efe51441367a49627f2	@DISEASE$ (USH) is a human hereditary disorder characterized by profound @PHENOTYPICFEATURE$, retinitis pigmentosa, and vestibular dysfunction.	false
+7c3de17f1fb747bae81d154507431dfc405fa0ec	Usher syndrome (USH) is a human hereditary disorder characterized by profound @PHENOTYPICFEATURE$, retinitis pigmentosa, and @DISEASE$.	false
+830ec1201eb9d1661e93f37a7042ddc285d2d03f	Usher syndrome (USH) is a human hereditary disorder characterized by profound @PHENOTYPICFEATURE$, @DISEASE$, and vestibular dysfunction.	false
+96a2a44528b53b8fe261932708cf7cc8a019b235	@DISEASE$ type Ib is a recessive autosomal disorder manifested by congenital deafness, @PHENOTYPICFEATURE$, and progressive retinal degeneration.	has_symptom
+6ebf6eafb3d53d7c65ecf3fd019100d255c69fb4	@DISEASE$ type Ib is a recessive autosomal disorder manifested by @PHENOTYPICFEATURE$, vestibular dysfunction, and progressive retinal degeneration.	false
+637dc469d2a34645fa24b79e73fb60d78f1f4936	Usher syndrome type Ib is a recessive autosomal disorder manifested by @PHENOTYPICFEATURE$, @DISEASE$, and progressive retinal degeneration.	false
+0ab9cf20ad80278319f0c3d949a13e1b1001b623	Usher syndrome type Ib is a recessive autosomal disorder manifested by @PHENOTYPICFEATURE$, vestibular dysfunction, and progressive @DISEASE$.	false
+e610374e56076d1277b93a9cd012ac34afd18886	@DISEASE$ is an autosomal recessive disorder that causes hearing loss, Retinitis Pigmentosa (RP) and @PHENOTYPICFEATURE$.	has_symptom
+d5f266ce2f1785778b692a710d1f2b83791618c2	Usher syndrome is an @PHENOTYPICFEATURE$ @DISEASE$ that causes hearing loss, Retinitis Pigmentosa (RP) and vestibular dysfunction.	false
+6629050f05a1a37396c4416fa09d5063c571be4a	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder that causes hearing loss, Retinitis Pigmentosa (RP) and vestibular dysfunction.	false
+ce8e73c79c180b603a22d11c3bfd2f9bbdbc890c	Usher syndrome is an @PHENOTYPICFEATURE$ disorder that causes hearing loss, Retinitis Pigmentosa (RP) and @DISEASE$.	false
+715740a38b5f3bdead824cb5c65041636c98509c	Usher syndrome is an @PHENOTYPICFEATURE$ disorder that causes @DISEASE$, Retinitis Pigmentosa (RP) and vestibular dysfunction.	false
+a041bc34428c62998ec4ee272a6c9eff8c983dcc	Usher syndrome is an @PHENOTYPICFEATURE$ disorder that causes hearing loss, @DISEASE$ (RP) and vestibular dysfunction.	false
+ab3cbbc0cf66a53355771aacca26d94a7503cca7	@DISEASE$ associates profound congenital deafness and @PHENOTYPICFEATURE$ with retinitis pigmentosa.	has_symptom
+93932d045023ccaea1dfca1ace00bb8675b95897	@DISEASE$ associates profound @PHENOTYPICFEATURE$ and vestibular dysfunction with retinitis pigmentosa.	false
+c6dfeec5d751db4d69eb70bd5a2c12bb7429a097	Usher syndrome associates profound @PHENOTYPICFEATURE$ and @DISEASE$ with retinitis pigmentosa.	false
+d49a1172477b14bb84c6d5f1c33bd46cf78d9045	Usher syndrome associates profound @PHENOTYPICFEATURE$ and vestibular dysfunction with @DISEASE$.	false
+981139cf8afc3dbc61abd509f1bb621087058a1d	@DISEASE$ is defined by the association of sensorineural hearing loss, retinitis pigmentosa and variable @PHENOTYPICFEATURE$.	has_symptom
+d922fad93045e7f25c16c8fe17c32719ab84da8b	Usher syndrome is defined by the association of @PHENOTYPICFEATURE$, @DISEASE$ and variable vestibular dysfunction.	false
+a43ee25106d3e68048c697d59b4e9399fdc388e5	Usher syndrome is defined by the association of @PHENOTYPICFEATURE$, retinitis pigmentosa and variable @DISEASE$.	false
+80a78b8748816b51f474bb7d97110bbb1dae36d4	@DISEASE$ is defined by the association of @PHENOTYPICFEATURE$, retinitis pigmentosa and variable vestibular dysfunction.	false
+0c7dfbf4afeb39d97281099817a4fea854bf4a1f	@DISEASE$ is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+6e00f51bcdc0c265f25aecf7e7339225811b9d96	The @DISEASE$ (USH) is the most common form of inherited deaf-blindness, accompanied by @PHENOTYPICFEATURE$.	has_symptom
+872e47f41f32685496a3e8053525f49e25091923	The Usher syndrome (USH) is the most common form of inherited deaf-@PHENOTYPICFEATURE$, accompanied by @DISEASE$.	false
+bf33b9a0dd3e8bbc930a350cc70e28ec01d7b090	The @DISEASE$ (USH) is the most common form of inherited deaf-@PHENOTYPICFEATURE$, accompanied by vestibular dysfunction.	false
+59d0c2f96840d8987997f07617a25f51f72e48a2	The Usher syndrome (USH) is the most common form of inherited @PHENOTYPICFEATURE$-blindness, accompanied by @DISEASE$.	false
+72010aa30a9de28eeb93760e7073fe8eb0d87906	The @DISEASE$ (USH) is the most common form of inherited @PHENOTYPICFEATURE$-blindness, accompanied by vestibular dysfunction.	false
+c4af0bd8b13c3f7fdda1fcf55b67dcf4eedf3c25	@DISEASE$ is a group of disorders, characterized by bilateral sensorineural hearing loss, with or without @PHENOTYPICFEATURE$ and retinitis pigmentosa.	has_symptom
+4d5761c4912e402c39a610a73320a03803981da8	Patients with CMTX5 and @DISEASE$ have peripheral neuropathy, including hearing impairment and @PHENOTYPICFEATURE$.	has_symptom
+bc549698a4b4c5bb17b020299ca00f766f9de44d	Patients with CMTX5 and Arts syndrome have @PHENOTYPICFEATURE$, including hearing impairment and @DISEASE$.	false
+2e3c108927b8f9cd845b7fb0648bcf3d7e597c6e	Patients with CMTX5 and Arts syndrome have peripheral neuropathy, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c621a189f8609fc1a2eafa252cb3763fcb26c4d9	Patients with CMTX5 and @DISEASE$ have @PHENOTYPICFEATURE$, including hearing impairment and optic atrophy.	false
+8cb862dcd96cc6d1199526b9581d7a00370ec1c6	Patients with CMTX5 and @DISEASE$ have peripheral neuropathy, including @PHENOTYPICFEATURE$ and optic atrophy.	false
+71786380a8b576713de5c3eb5d00940a9c2cbf10	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and @PHENOTYPICFEATURE$.	has_symptom
+d85efc2ba9835fea1e1291cdfd4283d2b59317fe	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, hearing impairment, and optic atrophy.	false
+8f085379aa214a47281d063a92223be21fad3fbc	Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+eef6f047d29c72c41959c7baf8ea6a4cb3ba7043	@DISEASE$ is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy.	false
+b43b1110eeb969ab9fc92f620689711c0a0fc682	@DISEASE$ is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, @PHENOTYPICFEATURE$, and optic atrophy.	false
+4fc2b1195be4f7f71569c640c579ea3a807737f1	Arts syndrome is an X-linked disorder characterized by @PHENOTYPICFEATURE$, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and @DISEASE$.	false
+79f60ac2e150d12d42257212acacb8b99b4069c6	Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, @PHENOTYPICFEATURE$, delayed motor development, hearing impairment, and @DISEASE$.	false
+36a86a30f42a7fa0b0555517c6b30fe3560fa8d9	@DISEASE$ is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive @PHENOTYPICFEATURE$, and a tendency to develop infections.	has_symptom
+09bd068a8e73b2c1691c3e48ad5abdeaaf1ec3c6	Arts syndrome is characterized by early-onset hypotonia, ataxia, @PHENOTYPICFEATURE$, sensorineural hearing impairment, progressive @DISEASE$, and a tendency to develop infections.	false
+5938ce9889f16d9b18fe84d9a2af2873039dc94e	Arts syndrome is characterized by early-onset hypotonia, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing impairment, progressive @DISEASE$, and a tendency to develop infections.	false
+1abf03e04c91324c137fa8a010e3512482c0df56	@DISEASE$ is characterized by early-onset hypotonia, ataxia, @PHENOTYPICFEATURE$, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	false
+9864786794be95c20b03d55be1646a6c1ed3cebb	@DISEASE$ is characterized by early-onset hypotonia, ataxia, intellectual disability, @PHENOTYPICFEATURE$, progressive optic atrophy, and a tendency to develop infections.	false
+ce367205f701e3f58a55126157fb078ad729e825	Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, @PHENOTYPICFEATURE$, progressive @DISEASE$, and a tendency to develop infections.	false
+e9a6e55e92994d199fd9c176a115c695a464dcb1	@DISEASE$ is characterized by early-onset hypotonia, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections.	false
+cb2161b523c2836114be43feeacb11eeaa7dc917	The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote @DISEASE$ homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, skeletal abnormalities, thromboembolic events, and sometimes @PHENOTYPICFEATURE$.	has_symptom
+10b5e1116151e6133fc282a9e78aa8e25458622f	The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote @DISEASE$ homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, @PHENOTYPICFEATURE$, thromboembolic events, and sometimes mental retardation.	false
+af4e86cb6d07c90e9f9639110b33dd9f44842f2c	The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote cystathionine beta synthase-deficient homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, @PHENOTYPICFEATURE$, thromboembolic events, and sometimes @DISEASE$.	false
+ed7a0fad5c930d1ba9e4d1ad915af4e129112603	The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote cystathionine beta synthase-deficient @DISEASE$ (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, @PHENOTYPICFEATURE$, thromboembolic events, and sometimes mental retardation.	false
+31243d9a04df9a618bf491a34000a0a64e88953a	@DISEASE$ is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to skeletal abnormalities, @PHENOTYPICFEATURE$ and a high risk of vascular disease.	has_symptom
+8bb940a78ed24b546aa7caeed02ebf48fb90a437	Classical homocystinuria is an @DISEASE$ that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to @PHENOTYPICFEATURE$, mental retardation and a high risk of vascular disease.	false
+3b041522e58cb3cdcfb9a0945428ea82345cc0d6	Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to @PHENOTYPICFEATURE$, mental retardation and a high risk of @DISEASE$.	false
+fe49aa033755b7ce3942f6a4af8d5cc7ba2827b7	@DISEASE$ is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to @PHENOTYPICFEATURE$, mental retardation and a high risk of vascular disease.	false
+ddf5dec825a4e7c2631d190a771f54dcfa8ef390	Classical homocystinuria is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to @PHENOTYPICFEATURE$, @DISEASE$ and a high risk of vascular disease.	false
+942239e9e4505afa5e9d9fcbb0f631fc0d55487a	@DISEASE$ (HCU) is caused by deficiency of cystathionine ?-synthase and is characterized by connective tissue disturbances, @PHENOTYPICFEATURE$ and cardiovascular disease.	has_symptom
+a4d5197c144cbb8c57011c3a9130639f7179b3e9	@DISEASE$: a new dominant condition with goniodysgenesis, @PHENOTYPICFEATURE$, and short stature.	has_symptom
+4d9d2551263c59bd538b324493a3e4c03448e921	GMS syndrome: a new dominant condition with goniodysgenesis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+31620f37797dfc6c826c3b3b0b8a5ef061a7e436	@DISEASE$: a new dominant condition with goniodysgenesis, mental retardation, and @PHENOTYPICFEATURE$.	false
+8dc3790ea63f72d0ca87bead1ff689db895bc339	He was evaluated for @PHENOTYPICFEATURE$ and eventually diagnosed with type-IV mucopolysaccharidosis (MPS) or @DISEASE$.	has_symptom
+d5a2a8d326d53a6d246e36c54142f0ecc82cf51f	[Moderated form of @DISEASE$: an unknown cause of @PHENOTYPICFEATURE$ (three case reports)].	has_symptom
+a5c98b7c56dd058f6ede8b89f0510e700f04f822	A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, @PHENOTYPICFEATURE$, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of @DISEASE$.	has_symptom
+3c7aaa46d2a447491a8780734e406ef55026953f	@DISEASE$ (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in GALNS gene and characterized by progressive skeletal deformities with @PHENOTYPICFEATURE$.	has_symptom
+a23048651b037967cf54122884565d5cae2daca5	The m.8344A>G mutation in the mt-tRNA(Lys) gene, first described in @PHENOTYPICFEATURE$ epilepsy and ragged red fibers (MERRF), accounts for approximately 80% of mutations in individuals with @DISEASE$.	has_symptom
+a7cbe55c21b9f355f2ecc9cd113ba4a84abcf839	We describe the successful administration of a combined general and epidural anesthesia with sevoflurane maintenance in a patient with @PHENOTYPICFEATURE$ epilepsy with ragged red fibers (@DISEASE$) scheduled for surgical treatment of bilateral clubfoot.	has_symptom
+7f6403517e0f22c5d56aa33c7ddcc88cb27cb9b7	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, @PHENOTYPICFEATURE$, or West-syndrome was reported.	has_symptom
+ac23657522b9f6cdd29ed61ca0afd9e0801e79ba	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @PHENOTYPICFEATURE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	has_symptom
+3ab5784967c44ed73b6a976fd6903640d7e60c04	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, @DISEASE$, or West-syndrome was reported.	false
+a67663c373d183369bf5e835db1af5fd00a4a76e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+826b2d7cdbcbba7b37e603ff19c9959da3ce93d4	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+212540789e8ac889ddbbedc0d59b417a1970b68e	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+66600f101a199f1dc15ab9c36c8fbf6345c099e2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+62b74282c2459d833c32ad6f885b9dcac0577af2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+56c1bdee7f1a27cf810be66e063fb3f544e43b23	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @DISEASE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+71363aa4c687e96894c92377726f2c03b0097899	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+c34238e2a28ad693d66c294446e33e4fb602ea58	@DISEASE$ mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+a85b8ac9250bba7302d63350d9d706c61e8f119a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, @DISEASE$, or West-syndrome was reported.	false
+377a65c1860bb3c50ee132ef19380cafffcdb74a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+5a8d95578f47b3e7d79903ea81fcfdb128b8bc7c	Syndromic mitochondrial disorders obligatory associated with epilepsy include @DISEASE$ (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+86cf1806aa10168fea60d120486cfe9b491e91a6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), @DISEASE$ (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+cb812df10419bc01da1d6f398c3c2d5f978a0b4c	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory @DISEASE$ (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+fe485c8cbd55a626d52391e184acd413827f1e9d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+c98e7cbe7c252728a49a5c028c88b98293de79fa	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or @DISEASE$ was reported.	false
+794c573c0c5897fff46d73c169a8015c2e50a027	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+dba29fcc2eaaa269db643d1ae22871fb7d23a38d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+8217b7241d44dca70fe48a1c5945292beab7a2a8	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+38e4c2741907e6b560a530460fdbfd9e189d933f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+2d79c46b6ad65565cbbb07c6d013c97b3d0b8ed6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+ea4ce454519c3af1b4bb5d1fece3ffcb41b4a685	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, @DISEASE$ epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+d76ace2ee80678e11e2a0f1e795086bab8bbf796	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+a37b59a44242385b67acf61799a5df98fe70eea6	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, @DISEASE$, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+acbec472abb727147be2883c3783bca88521e97f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, @DISEASE$, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+7d4b160abdb6554d1c43a92967db5685a98c064a	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) @DISEASE$, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of @PHENOTYPICFEATURE$ occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+36247b6ffb47cb7dfec21c1b0119d34885408285	We review the mitochondrial diseases in which cerebrovascular changes are seen, such as the @DISEASE$ (@PHENOTYPICFEATURE$ epilepsy and ragged red fibers) or the Kearns-Sayre syndrome (progressive external ophthalmoplegia, retinitis pigmentaria, cerebellar disorders and disorders of cardiac conduction), focusing on the syndrome involving mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).	has_symptom
+4879b728ca68efbbe1dd252f0617138750cf630c	Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (@DISEASE$).	has_symptom
+ab7f363f61d00af7af9e61e920f994844cc6ba90	The patient presented with @PHENOTYPICFEATURE$ epilepsy beginning at 10?years of age, a muscle biopsy with ragged red fibres and some COX negative fibres and progressive bilateral MRI hyperintensitivities in the basal ganglia constituting @DISEASE$ but lacked clinical characteristics of MELAS.	has_symptom
+44f56880494f858be2cd3340363ba8ce9167527d	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), @DISEASE$ (@PHENOTYPICFEATURE$ epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	has_symptom
+ebd5ae8622ba9d3442dc1187dc44cf6b191ff003	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), @DISEASE$ (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+87ea197e119edf8e012c2f3890c7b1cbf2a75aa7	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (@DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+fb3fdd7a1150c2882bbabaf29ea614c5a84b27e0	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), @DISEASE$ (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+9b4c1feb8de3110d32d68fb4c5f03adca549cb3d	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), @DISEASE$ (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+81d29acc8a9e9358912e5eea0342683e5ab9ced5	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MERRF syndrome (@DISEASE$ epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+0b9e9f8a1fc6bd07b0f39eec5cbbb78419f1b18d	These symptoms occurred before @PHENOTYPICFEATURE$, myoclonic and progressive dementia, which are more well known as manifestations of @DISEASE$.	has_symptom
+fc7cb5e10bcc059e165de355a047956056432d67	These symptoms occurred before @DISEASE$, @PHENOTYPICFEATURE$ and progressive dementia, which are more well known as manifestations of Lafora's disease.	false
+c0dcc9b55dbd92036d47a66869e7407f5fcbf228	These symptoms occurred before seizures, @PHENOTYPICFEATURE$ and progressive @DISEASE$, which are more well known as manifestations of Lafora's disease.	false
+f18ba1088dbe6794c73dee148a2da747641071a0	These symptoms occurred before seizures, @PHENOTYPICFEATURE$ and progressive dementia, which are more well known as manifestations of @DISEASE$.	false
+e2a8fdc9f83fe17eea34822f4e8d7ba179416882	@DISEASE$, @PHENOTYPICFEATURE$ and sugars.	has_symptom
+13fe0da5d8f4c7940f7fdc2309462d041f64e78c	Sodium selenate treatment improves symptoms and @PHENOTYPICFEATURE$ susceptibility in a malin-deficient mouse model of @DISEASE$.	has_symptom
+27b5a7077681e910912ec9845c623204eb9ba53a	Occipital @PHENOTYPICFEATURE$ in @DISEASE$: a further case documented by EEG.	has_symptom
+33236df961af764bb175cf8e4b6e00d37936f100	Sustained @PHENOTYPICFEATURE$ remission on perampanel in progressive myoclonic epilepsy (@DISEASE$).	has_symptom
+690a32c702505990f735cb1b6467d84946e00c0e	@DISEASE$ (LD) is an autosomal recessive progressive myoclonus epilepsy with classic adolescent onset of stimuli sensitive @PHENOTYPICFEATURE$.	has_symptom
+2e6a8ca3b9617b59438baf641fcbf9e166393847	@DISEASE$ (LD) is an autosomal recessive progressive @PHENOTYPICFEATURE$ epilepsy with classic adolescent onset of stimuli sensitive seizures.	false
+10b31f0c42d6d83c9772230cb64ab1cfa6cb9db0	Lafora disease (LD) is an autosomal recessive progressive @PHENOTYPICFEATURE$ epilepsy with classic adolescent onset of stimuli sensitive @DISEASE$.	false
+c3cca24bdca3e1ff01cbe65c6aad05a552953d8d	@DISEASE$ (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and @PHENOTYPICFEATURE$, inexorable neurologic deterioration, cognitive decline and poor prognosis.	has_symptom
+5dede18a09ac3b10c7fa65e731b3e8f552b38f09	@DISEASE$ is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in @PHENOTYPICFEATURE$ intractability.	has_symptom
+56f5825b91bb360161e032df6bc950287cff9a82	@DISEASE$ should be remembered among diseases causing slowly progressive ataxia associated with @PHENOTYPICFEATURE$.	has_symptom
+8a58fa5d561f1f60798a7cac45309bf983807777	Laforin and malin are defective in @DISEASE$ (LD), a neurodegenerative disorder associated with @PHENOTYPICFEATURE$.	has_symptom
+b1b5c655f00afda7a73a0d610bd4e24912188339	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), @DISEASE$ (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	has_symptom
+f3a716b0108e244518b7ad9a29924be864fa0889	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren @DISEASE$ (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+4954c2ab19dbc5c42c114775e9a9b21b6737dd63	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @DISEASE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+f1c5c884443249e5a93cdbf8a987a5397fbb023f	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), @DISEASE$ (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+6c005aece291ef8973c994aa6d4a9029ff2d13b0	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor @DISEASE$ accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+3fde3db0c2b0f56d899ef6a0c6b1dd06564ec670	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), @DISEASE$ (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+c6ec1cf0c6e9b86e3d3d6cf361f751c30c328309	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related @DISEASE$ (1/21) mutations were detected.	false
+b6fb7a559cf1f208bfb007b8e1eafea64affb714	Genetically, infantile neuroaxonal dystrophy (7/21), @DISEASE$ (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+fb560293dd34cc670dac4f01264f575ae66a04bd	Five conditions account for most cases of progressive myoclonic @PHENOTYPICFEATURE$: Unverricht-Lundborg disease, @DISEASE$, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	has_symptom
+c7ba31d062ee0346507fbb67ca7001f933a2ad3a	Five conditions account for most cases of progressive myoclonic ataxia: Unverricht-Lundborg disease, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+5f3e0f08c266bb35d80c7234c4bf4f7724287c54	Five conditions account for most cases of progressive @PHENOTYPICFEATURE$ ataxia: @DISEASE$, Lafora disease, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+e857860aa40156d5a144fa489bd64514be6323e4	Five conditions account for most cases of progressive @PHENOTYPICFEATURE$ ataxia: Unverricht-Lundborg disease, @DISEASE$, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+0372e80f42d93a1ee091bdc46db604e34afafa46	Five conditions account for most cases of progressive myoclonic @DISEASE$: Unverricht-Lundborg disease, Lafora disease, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+0efc5d78f7333a4b238c28537ad229dd1a0f8a6b	Five conditions account for most cases of progressive myoclonic ataxia: @DISEASE$, Lafora disease, @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+269db4b6125e6da1880eaf3ea96c18be59505730	Five conditions account for most cases of progressive @PHENOTYPICFEATURE$ @DISEASE$: Unverricht-Lundborg disease, Lafora disease, myoclonic epilepsy with ragged-red fibers, neuronal ceroid lipofuscinoses, and sialidoses.	false
+4028b0fade424965752b7da499d874e46ee6974f	The authors report the clinical criteria for the diagnosis of progressive myoclonus epilepsies on the basis of their experience following 34 cases (2 with sialidosis, 2 with MERRF, 4 with @DISEASE$, 24 with Unverricht-Lundborg type, 4 with @PHENOTYPICFEATURE$ myoclonus).	has_symptom
+0ff360ae460dd4d8cdbbe1c9b728e4d6a1e9f18d	The authors report the clinical criteria for the diagnosis of progressive myoclonus epilepsies on the basis of their experience following 34 cases (2 with sialidosis, 2 with MERRF, 4 with @DISEASE$, 24 with Unverricht-Lundborg type, 4 with ataxic @PHENOTYPICFEATURE$).	false
+1415e5ae4460fde5bf2fc626d6f806e720958712	The authors report the clinical criteria for the diagnosis of progressive myoclonus epilepsies on the basis of their experience following 34 cases (2 with sialidosis, 2 with MERRF, 4 with Lafora disease, 24 with Unverricht-Lundborg type, 4 with @DISEASE$ @PHENOTYPICFEATURE$).	false
+69c50eecd9ef6a990751b795303925922074aadc	@DISEASE$ (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, @PHENOTYPICFEATURE$, psychosis, dementia, and dysarthria.	has_symptom
+0b866c57ba3d3e6f07033479b004d48f3b155d79	The main symptoms of @DISEASE$, which worsen progressively, are: myoclonus, occipital seizures, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and @PHENOTYPICFEATURE$ with a fatal outcome.	has_symptom
+a8907d687d6cdb31c2474fd7a6c89ad827ed0224	The main symptoms of Lafora disease, which worsen progressively, are: myoclonus, occipital seizures, @PHENOTYPICFEATURE$, cognitive decline, neuropsychiatric syptoms and @DISEASE$ with a fatal outcome.	false
+a54066e3a137a7e8cb1b3a76e0ad88fdcbad6089	The main symptoms of @DISEASE$, which worsen progressively, are: myoclonus, occipital @PHENOTYPICFEATURE$, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome.	false
+6684c60191b0e9fe4d47c63fc7e79b481f13f0d9	The main symptoms of @DISEASE$, which worsen progressively, are: myoclonus, occipital seizures, @PHENOTYPICFEATURE$, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome.	false
+6ca2072fcb00bf96fb9d27252a4150b1a2d3fde4	The main symptoms of Lafora disease, which worsen progressively, are: myoclonus, occipital @PHENOTYPICFEATURE$, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and @DISEASE$ with a fatal outcome.	false
+b3060112e916d0a9f28935c36f6debc035969869	@DISEASE$ (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and @PHENOTYPICFEATURE$, usually presenting in the second decade of life and inexorably progressing until death.	has_symptom
+692ef23aba07b9b81303411c1af1b9014dd0df14	Abstract @DISEASE$ is an autosomal recessive, fatal, generalized polyglucosan storage disorder that occurs in childhood or adolescence with stimulus sensitive epilepsy (resting and action myoclonias, grand mal, and absence), dementia, @PHENOTYPICFEATURE$ and rapid neurologic deterioration.	has_symptom
+581aeab6bfdef46effc1e7600b7d40c82d6b278a	The autosomal recessive @DISEASE$ nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal @PHENOTYPICFEATURE$ in the first 3 decades of life.	false
+2a2cec32e8449408bbe0c20bbb7fe6159bc5a6f3	The autosomal recessive kidney disease @DISEASE$ (NPHP) constitutes the most frequent genetic cause of terminal @PHENOTYPICFEATURE$ in the first 3 decades of life.	false
+beedcb7eae03c32d02bb64d5298b4726c62d0b3c	In @DISEASE$ (FAS), mental retardation and @PHENOTYPICFEATURE$ are commonly observed.	has_symptom
+570ad38ec9fa650a19fc79d90c09ea1892c2f1b7	In @DISEASE$ (FAS), @PHENOTYPICFEATURE$ and microcephaly are commonly observed.	false
+e15fc7e5ec3e61773961ccc04c9864ee6461546d	In fetal alcohol syndrome (FAS), @PHENOTYPICFEATURE$ and @DISEASE$ are commonly observed.	false
+22e12942c39dc7be90e887d1614b224bcd8817da	A boy aged 12 prematurely born presents several signs of @DISEASE$ (FAS): mild mental retardation, staturoponderal delay, @PHENOTYPICFEATURE$, thin philtrum and vermillion of the upper lip.	has_symptom
+86f605e744e10da2346144ff5f2b164570ef9de0	Fetal exposure to alcohol may cause neonatal withdrawal symptoms, maladaptive behavior in childhood and the @DISEASE$ (including @PHENOTYPICFEATURE$).	has_symptom
+6a6396de6f4041dbda791ebca688dbc222e26f78	The physical features of @DISEASE$ include smooth philtrum, thin vermillion border, short palpebral fissures, @PHENOTYPICFEATURE$, and growth deficiencies on weight and height.	has_symptom
+26671a7977e1a934144dc3f743c627e069ff78b7	She also displayed @PHENOTYPICFEATURE$, short palpebral fissures, and a smooth philtrum, which are clinical signs consistent with @DISEASE$.	has_symptom
+5e983badd7be1262255192962aaeba2cfd75b709	@DISEASE$ in association with RETT syndrome: We report on a girl with neonatal dystrophy, @PHENOTYPICFEATURE$, heart defect, and the characteristic features of alcohol embryopathy.	has_symptom
+137437aa87914c1ea48200c82bda8c710b76c010	Fetal alcohol syndrome in association with RETT syndrome: We report on a girl with neonatal dystrophy, @DISEASE$, @PHENOTYPICFEATURE$, and the characteristic features of alcohol embryopathy.	false
+70686ec16d6e8900ab32b3eda3b32d94b5085370	Fetal alcohol syndrome in association with @DISEASE$: We report on a girl with neonatal dystrophy, microcephaly, @PHENOTYPICFEATURE$, and the characteristic features of alcohol embryopathy.	false
+b0858257db207d2e3da168a10101b6f19d8227fc	@DISEASE$ in association with RETT syndrome: We report on a girl with neonatal dystrophy, microcephaly, @PHENOTYPICFEATURE$, and the characteristic features of alcohol embryopathy.	false
+9f9c0fe62ab85269c4c9d1543ebf54fbd45f6e87	High rates of stunting, underweight and @PHENOTYPICFEATURE$ were noted in all learners, especially those with @DISEASE$ or PFAS.	has_symptom
+72d2a1e8eb663688b3483a8e3ff4f3c7eccd5ea1	The most notable features of @DISEASE$ involve the face and eyes, and include @PHENOTYPICFEATURE$, short palpebral fissures, an underdeveloped philtrum and a thin upper lip.	has_symptom
+6abdd0a3d1fbf4149166d590d3bada9720d882d6	Risk is particularly elevated for those with @PHENOTYPICFEATURE$ or a diagnosis of @DISEASE$.	has_symptom
+42099de3e34bab98399b7e2ee3b29714031108e2	In humans, @PHENOTYPICFEATURE$ (small head for body size) is a common feature of @DISEASE$.	has_symptom
+22da3bcaad098e874d16b3357c2d4f3c179a0df1	The case also exhibited severe ocular malformations and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+c200be03d518e7ac7505c4474c592e67f0328c16	We studied three new cases of congenital muscular dystrophy (@DISEASE$) with homogeneous clinical and laboratory features, represented by congenital @PHENOTYPICFEATURE$ and weakness, early contractures, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS.	has_symptom
+dc06adb5773a25d30d48883563fc8689386ea110	We studied three new cases of congenital muscular dystrophy (CMD) with homogeneous clinical and laboratory features, represented by congenital @DISEASE$ and weakness, early @PHENOTYPICFEATURE$, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS.	false
+7a01c1372dc814366b4612ace839712a4ff18de6	We studied three new cases of @DISEASE$ (CMD) with homogeneous clinical and laboratory features, represented by congenital muscle hypotonia and weakness, early @PHENOTYPICFEATURE$, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS.	false
+bd24398fc3397dd87999fc5f571e1af001e1af6d	We studied three new cases of congenital muscular dystrophy (@DISEASE$) with homogeneous clinical and laboratory features, represented by congenital muscle hypotonia and weakness, early @PHENOTYPICFEATURE$, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS.	false
+8b20b254c7af01bb28b010ede267d9af7ef75d80	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, @PHENOTYPICFEATURE$, growth delay, and kyphoscoliosis.	has_symptom
+c67acd0698adda9cf5efe745a365e39c2f871c5d	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis.	false
+c415062de6935fd83ed43f72a72765a1a99aeb06	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, @PHENOTYPICFEATURE$, and kyphoscoliosis.	false
+38f295dcde3c57c8465765a7dec0287862c623cf	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @PHENOTYPICFEATURE$, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis.	false
+fd9d40e5c89ebfbc27520847fd4781472588067a	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @PHENOTYPICFEATURE$, normal extraocular movements, @DISEASE$, growth delay, and kyphoscoliosis.	false
+7dc672a745f582ce33649514f1b2028a003019f6	The echocardiographic abnormalities included right ventricular dysfunction, left ventricular systolic dysfunction, diastolic dysfunction, regional wall motion abnormalities, Doppler abnormalities of pericardial tamponade physiology, @PHENOTYPICFEATURE$, @DISEASE$, and aortic abnormalities.	has_symptom
+6744dbb4128307a33fd0b0513695d1dda463b6b8	The echocardiographic abnormalities included right ventricular dysfunction, @PHENOTYPICFEATURE$, diastolic dysfunction, regional wall motion abnormalities, Doppler abnormalities of pericardial tamponade physiology, left ventricular hypertrophy, @DISEASE$, and aortic abnormalities.	false
+1aebfba9bcc1259f762f341fa5027431c9c58390	The echocardiographic abnormalities included right ventricular dysfunction, @PHENOTYPICFEATURE$, diastolic dysfunction, regional wall motion abnormalities, Doppler abnormalities of pericardial tamponade physiology, @DISEASE$, hypertrophic cardiomyopathy, and aortic abnormalities.	false
+e3e6afe12861dd0958dbb1cad5331d4fd2dd2d17	Although the equation between hypertension and @PHENOTYPICFEATURE$ is more concentric, but it can be associated with left ventricular outflow tract obstruction and significant mid-cavity gradients similar to that seen in idiopathic @DISEASE$.	has_symptom
+1b6f279beb191687113c72ee9428699e811275a5	Although the equation between hypertension and left ventricular hypertrophy is more concentric, but it can be associated with @PHENOTYPICFEATURE$ and significant mid-cavity gradients similar to that seen in idiopathic @DISEASE$.	false
+8eb10090fe4405836f4e2ead2e3c33f17ca7b337	Although the equation between hypertension and @DISEASE$ is more concentric, but it can be associated with @PHENOTYPICFEATURE$ and significant mid-cavity gradients similar to that seen in idiopathic hypertrophic cardiomyopathy.	false
+d4e07e087bdf8771167a7747de51ab4e67f259be	@DISEASE$ (HCM) is caused by mutations in sarcomeric proteins, the commonest being MYBPC3 encoding myosin-binding protein C. It is characterised by @PHENOTYPICFEATURE$ but there is an important pre-hypertrophic phenotype with features including crypts, abnormal mitral leaflets and trabeculae.	has_symptom
+5bbf6daf5ab4fc922b82e5a124e78607f25845bd	In the @DISEASE$ patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), @PHENOTYPICFEATURE$ seen in 1125 sessions (26.4%), fever and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), hypoglycemia seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	has_symptom
+726be5d5edc88e92a89e98d55618a3a5bd19c736	In the ARF patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), nausea and vomiting seen in 1125 sessions (26.4%), @PHENOTYPICFEATURE$ and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), @DISEASE$ seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	false
+e4e251c0a28875ab38ec71319c1ad474f4a7378c	In the ARF patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), @DISEASE$ seen in 1125 sessions (26.4%), @PHENOTYPICFEATURE$ and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), hypoglycemia seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	false
+f25b7ed8b50878a8740000bb7335e3f23eb0dd3b	In the @DISEASE$ patients, the common intradialytic complications were: Hypotension, seen in 1296 sessions (30.4%), nausea and vomiting seen in 1125 sessions (26.4%), @PHENOTYPICFEATURE$ and chills seen in 818 sessions (19.2%), headache seen in 665 sessions (15.6%), cramps seen in 85 sessions (2.0%), chest pain and back pain seen in 82 sessions (1.92%), hypoglycemia seen in 77 sessions (1.8%), first-use syndrome seen in 72 sessions (1.7%) and femoral hematoma seen in 31 sessions (0.73%).	false
+3975459d6679dca665c2cd4ed3dabfdd892f3c22	The most common presenting symptoms in patients with @DISEASE$ were fever (100%), @PHENOTYPICFEATURE$ (95.0%), muscle pain (88.1%) and jaundice (71.3%).	has_symptom
+9f97c48afbf4ed57eeb44105bad71fb44df58788	Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of @PHENOTYPICFEATURE$ (@DISEASE$) with central and peripheral nervous system involvement.	has_symptom
+7573f0e769f8f33f01e4af76cf1a0376151eb3ce	Other lesions like inclusion cyst, dermoid cyst, seborrheic keratosis, @DISEASE$, @PHENOTYPICFEATURE$ and molluscum contagiosum are also included in our study.	false
+82f77277b282da1b85e22f379d3962efb8b638b6	Other lesions like inclusion cyst, @PHENOTYPICFEATURE$, seborrheic keratosis, @DISEASE$, nevus and molluscum contagiosum are also included in our study.	false
+2177a540b5937090795167720f8dc5ade1666ee3	A 71-year-old man with a history of a @DISEASE$ and metastatic pancreatic carcinoma presented with epistaxis, visual changes, bilateral ophthalmoplegia, involuntary closure of the left eye, and @PHENOTYPICFEATURE$ of the right eye.	has_symptom
+55f80ecb63cce649d2e1b48270a6f3ee1669d26f	A 64-year-old female with a >15-year history of cabergoline therapy for @DISEASE$ was referred to our department of neurosurgery after complaining of headache, blurred vision, diplopia, and @PHENOTYPICFEATURE$ for 3 days during hospital admission for chemotherapy of chronic myelocytic leukemia.	has_symptom
+031fb709f02e6b6226a202e35ac445581e1d943c	[@DISEASE$, @PHENOTYPICFEATURE$ of the dental enamel].	has_symptom
+3175801fc55d479ba80a09959e1667c34e1bb9a0	@DISEASE$ craniopharyngiomas (ACPs) are the most common pituitary @PHENOTYPICFEATURE$ in children.	has_symptom
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	has_symptom
+7031a7a65b8eab9f08929b0e1307685efbe8d1bb	It is often difficult to distinguish an @DISEASE$ from other @PHENOTYPICFEATURE$.	has_symptom
+d80c5faf4e8a1fd652eb8a25ee362668e533141e	[@DISEASE$ of the clavicle: rare @PHENOTYPICFEATURE$ for rare location].	has_symptom
+3aa6c7aea3dc08b2744b72b69fe578554c207a67	@DISEASE$-like Ewing family @PHENOTYPICFEATURE$ (EFT) is a rare subset of EFTs showing mixed features of Ewing sarcoma and adamantinoma of the long bones.	has_symptom
+f2ac723faa80ec23178f34efb10bd30bd1761228	Adamantinoma-like Ewing family @PHENOTYPICFEATURE$ (EFT) is a rare subset of EFTs showing mixed features of Ewing sarcoma and @DISEASE$ of the long bones.	has_symptom
+631e221a38c83b7719625a7623d21c79425a1a31	An @DISEASE$ is a rare primary @PHENOTYPICFEATURE$ of bone.	has_symptom
+b3c72a69904a225206bc9832b35cb0f98ee62532	Extensive @DISEASE$ and other @PHENOTYPICFEATURE$ of the jaw.	has_symptom
+db5b6b67fc53f6590835d0fe0719bbd68245942d	@DISEASE$ is a @PHENOTYPICFEATURE$ of true epithelial nature, predominantly expressing cytokeratins 14 and 19.	has_symptom
+407a3c58c9cf36ff307dac266b974d406ccceb0b	@DISEASE$ is known as a low-grade malignant biphasic @PHENOTYPICFEATURE$.	has_symptom
+da13b57d4b110ab4b5f74cdd1f881267a38228d2	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @PHENOTYPICFEATURE$, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	has_symptom
+a28a87095aae69a3a7980541821ffab7d477a729	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, @PHENOTYPICFEATURE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+840bb9864d641f81dc23c6b927e3bd81a6b1387d	Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+af5aafcaddc77b8fc167df0635e0669d515d395f	Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @DISEASE$, short stature, @PHENOTYPICFEATURE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+bfa29279e54bde569438570fe4b0af715e63c019	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, @PHENOTYPICFEATURE$, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+8d81feb90aefd06bd9ccd275a4a05279519e8477	These cases also confirm that scoliosis, @PHENOTYPICFEATURE$, and a non-specific primary myopathy are important manifestations of @DISEASE$.	has_symptom
+ec32f15515880c542c35b70b42a11d160e6502ab	Co-occurrence of primordial dwarfism and @PHENOTYPICFEATURE$ together with particular skeletal findings are seen in a wide range of Mendelian syndromes including microcephaly micromelia syndrome (MMS, OMIM 251230), @DISEASE$ (MISSLA, OMIM 617604), and microcephalic primordial dwarfisms (MPDs).	has_symptom
+fef15d9c347ed2f5c9d8c50bac7725a8a70ffd56	A nonsense mutation in WNT10A was recently identified in @DISEASE$ (OODD; MIM 257980), a rare syndrome characterised by severe @PHENOTYPICFEATURE$, nail dystrophy, smooth tongue, dry skin, keratoderma and hyperhydrosis of palms and soles.	has_symptom
+ef1eb846540874874571c0d009c56f0f568f22fa	WNT10A has been associated with various syndromes with ectodermal dysplasia from severe autosomal recessive SchO?pf-Schulz-Passarge syndrome to @DISEASE$ and autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+71088f0e3ae14e30bf84999086fa6279c31a1eda	deletions flanked by BP1 and BP2 of the Prader-Willi/@DISEASE$ region have recently been linked to a range of neurodevelopment disorders including intellectual disability, @PHENOTYPICFEATURE$, motor delay, autism spectrum disorders, epilepsy, and schizophrenia.	has_symptom
+5f6ee1c1b5ee3d0f152ad5b613c221a9384e231a	deletions flanked by BP1 and BP2 of the Prader-Willi/@DISEASE$ region have recently been linked to a range of neurodevelopment disorders including @PHENOTYPICFEATURE$, speech and language delay, motor delay, autism spectrum disorders, epilepsy, and schizophrenia.	false
+3c93aaac3bc406f2c5063b99fa32aead14c4d9ef	deletions flanked by BP1 and BP2 of the Prader-Willi/Angelman syndrome region have recently been linked to a range of neurodevelopment disorders including @PHENOTYPICFEATURE$, speech and language delay, motor delay, @DISEASE$, epilepsy, and schizophrenia.	false
+87aadc4ea367b0706787ff7f8bd83082c9d716f3	deletions flanked by BP1 and BP2 of the Prader-Willi/Angelman syndrome region have recently been linked to a range of neurodevelopment disorders including @PHENOTYPICFEATURE$, @DISEASE$, motor delay, autism spectrum disorders, epilepsy, and schizophrenia.	false
+f1fcb3111bd11df3105edee4d37f674a5cddc27c	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the @DISEASE$ spectrum (microcephaly < -2.5 SD, ataxic gait, seizures and @PHENOTYPICFEATURE$).	has_symptom
+33822b01b2b155f6b8a4a7ada83d77ab509d24e5	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the Angelman syndrome spectrum (microcephaly < -2.5 SD, @PHENOTYPICFEATURE$, seizures and @DISEASE$).	false
+52cd9733ec22440c50858fe9ba73d8e2dfead10b	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the @DISEASE$ spectrum (microcephaly < -2.5 SD, @PHENOTYPICFEATURE$, seizures and speech delay).	false
+7800de4b480a493f4c8a37d7fdf64c731484e264	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the Angelman syndrome spectrum (microcephaly < -2.5 SD, ataxic gait, @PHENOTYPICFEATURE$ and @DISEASE$).	false
+ece5c2fd8717ed4f9cfaf6475b81519d0bca241b	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the Angelman syndrome spectrum (@PHENOTYPICFEATURE$ < -2.5 SD, ataxic gait, seizures and @DISEASE$).	false
+3a2bcc52c05f7ab1005fa758eed16f8e63369d09	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the @DISEASE$ spectrum (@PHENOTYPICFEATURE$ < -2.5 SD, ataxic gait, seizures and speech delay).	false
+a5f41061dfdbea4ad57ad0dac687e9e03755b8ef	The DYRK1A gene was studied by direct sequencing and quantitative PCR in a cohort of 105 patients with ID and at least two symptoms from the @DISEASE$ spectrum (microcephaly < -2.5 SD, ataxic gait, @PHENOTYPICFEATURE$ and speech delay).	false
+a015bdc62490951bfc6512dd8f88737f05abb3dd	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, microcephaly, and severe @PHENOTYPICFEATURE$.	has_symptom
+5de47362aab84aeb01b143c43c56794810e69458	Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$, seizures, microcephaly, and severe @DISEASE$.	false
+0123ed2704e65781cfa787a8d3e3284b30a03a2f	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$, seizures, microcephaly, and severe speech delay.	false
+979cb1d8f280e9b291e4b784a73a0d8465e4bc39	Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, @PHENOTYPICFEATURE$, and severe @DISEASE$.	false
+5f4d68b96b132d93ac493b38a11af4cb62ff67d4	Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, @PHENOTYPICFEATURE$, microcephaly, and severe @DISEASE$.	false
+f8d3dc756e84250ed3d5df757a8b12f0889d2ae7	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, @PHENOTYPICFEATURE$, and severe speech delay.	false
+ebea1f1f9cb5931bb801d7728f4f10a7ab30f81e	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, @PHENOTYPICFEATURE$, microcephaly, and severe speech delay.	false
+ad3764b677a628e8137149dbaca21b47b9d72169	@DISEASE$ (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe @PHENOTYPICFEATURE$, dysmorphic features, abnormal behaviour, movement disorder.	has_symptom
+b1a78638ee11138e2ca70859d3e18fbbb201a408	@DISEASE$ (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, @PHENOTYPICFEATURE$.	false
+38c3a1b53e7c74dc1634fcc93c811d19a153d925	Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe @DISEASE$, dysmorphic features, abnormal behaviour, @PHENOTYPICFEATURE$.	false
+8117b9af08f3cf8b6a01a266e06d1d627d9dcffb	@DISEASE$ (AS) is a genetic condition, characterized by @PHENOTYPICFEATURE$, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder.	false
+671efee23c73bb4bfee2c6be02775a1df7de3058	@DISEASE$ (AS) is a genetic condition, characterized by severe mental retardation, @PHENOTYPICFEATURE$, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder.	false
+48cf7497aa867e76da3d40624e3c4fd9787fe803	Angelman syndrome (AS) is a genetic condition, characterized by @PHENOTYPICFEATURE$, ataxic gait, severe @DISEASE$, dysmorphic features, abnormal behaviour, movement disorder.	false
+c2f10ad071bdc7e7041649968120205b2ca8e652	Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, @PHENOTYPICFEATURE$, severe @DISEASE$, dysmorphic features, abnormal behaviour, movement disorder.	false
+b525798f836197e3775ec556cad949000b68c5d6	Objective @DISEASE$ (AS) is a neurodevelopmental disorder presented by jerky movement, @PHENOTYPICFEATURE$ and cognitive disability epilepsy as well as dysmorphic features.	has_symptom
+cc9d741d67f76fdca46fb2839d254519a429af49	We report on a rare case of cutaneous @DISEASE$ caused by Rhizopus arrhizus in a patient with cirrhosis and @PHENOTYPICFEATURE$ who presented with an ischemic hand.	has_symptom
+575dfd3dcf9e6bdaa9557512ebbba4a88e591e15	@DISEASE$ is a rare and opportunistic infection usually associated with hematologic diseases, diabetes mellitus, @PHENOTYPICFEATURE$, solid tumors, and organ transplantation.	has_symptom
+f8b581f39e3941536ab077c2ac08942f9cf53358	Mucormycosis is a rare and opportunistic infection usually associated with @DISEASE$, diabetes mellitus, renal failure, solid @PHENOTYPICFEATURE$, and organ transplantation.	false
+f72c161a35dd0b5983db379adf9afb8e41d90bbc	Mucormycosis is a rare and opportunistic infection usually associated with hematologic diseases, @DISEASE$, renal failure, solid @PHENOTYPICFEATURE$, and organ transplantation.	false
+c4773a24a8f4a7b64ba98ee10d354bec436068ca	@DISEASE$ is a rare and opportunistic infection usually associated with hematologic diseases, diabetes mellitus, renal failure, solid @PHENOTYPICFEATURE$, and organ transplantation.	false
+5b95e54932679a1154dff4746a4a14ed5e190b54	Mucormycosis is a rare and opportunistic infection usually associated with hematologic diseases, diabetes mellitus, @DISEASE$, solid @PHENOTYPICFEATURE$, and organ transplantation.	false
+24decdad282ab6fd1514e3e0cdbfb62b423a7d8d	@DISEASE$ is a rare and often fatal opportunistic angioinvasive infection seen mostly in immunocompromised patients, such as those with diabetes mellitus, cancer, or @PHENOTYPICFEATURE$.	has_symptom
+3395dd79f33dc50b07ff2e64dc6eb002789f3d8f	@DISEASE$ is an opportunistic infection that has been mainly described in adults with preexisting disease affecting immune status, eg, diabetes, leukemia, lymphoma, and @PHENOTYPICFEATURE$ on peritoneal dialysis.	has_symptom
+090e70aac78890ccce3c9d2949aaf37d3199fdaf	The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; myoclonic epilepsy @PHENOTYPICFEATURE$ sensory ataxia; ataxia neuropathy spectrum; @DISEASE$; and autosomal dominant progressive external ophthalmoplegia.	has_symptom
+51320d677771c37f2aa09d4a5df67dd856f7ddf8	@DISEASE$ (VS) is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by @PHENOTYPICFEATURE$.	has_symptom
+594ada5184798653732e356458593dc36741a7ef	Vohwinkel syndrome (VS), also known as @DISEASE$, is a rare keratinization genetic disorder characterized by palmoplantar keratoderma, skeletal dysmorphisms and varying degrees of @PHENOTYPICFEATURE$.	has_symptom
+7e891a34cdc3cc1de883e0b23dd201c938cba3bc	@DISEASE$ (VS), also known as keratoderma hereditaria mutilans, is a rare keratinization genetic disorder characterized by palmoplantar keratoderma, skeletal dysmorphisms and varying degrees of @PHENOTYPICFEATURE$.	has_symptom
+7898f3152cdcb727ada7d4ca2ab1627b644cc4cf	Diagnosing physicians should consider @DISEASE$ in children with non-specific @PHENOTYPICFEATURE$, behavioural abnormalities, and/or mild dysmorphic features.	has_symptom
+73193e842f804215fe44221b3592d22da2ade52e	To ascertain the clinical features and long-term visual prognosis of @DISEASE$ (BCR), and to identify patients at risk of @PHENOTYPICFEATURE$.	has_symptom
+2cb5b4ac26820e4c5b3765f832b69ab1604c9bb2	Episodic @PHENOTYPICFEATURE$ in @DISEASE$: a meta-analysis.	has_symptom
+4ecdeeb16f080b26b7c185efe888e0490e1b12a6	Among the 2500 individuals with mild or moderate @PHENOTYPICFEATURE$, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for @DISEASE$ mutations by using reverse dot blot hybridization technique.	has_symptom
+6fc8a12ecf0b62c8063d945e6b9eb04682743aa4	Among 142 fetuses at risk, 46 (32.4%) fetuses were diagnosed as affected by homozygous @DISEASE$-1 disease and were categorized as mild anemia (16.3%), moderate @PHENOTYPICFEATURE$ (58.1%), and severe anemia (25.6%).	has_symptom
+c18d3e911fb63982ac449f2e2a01fd64eeb5396d	Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with @PHENOTYPICFEATURE$, microcytosis, and @DISEASE$-2 (-3.7 Kb).	has_symptom
+209ba05aded7d60427d60f24f9c167f17e49d8e7	Herein we describe a novel @DISEASE$ (thal) point mutation in the alpha2-globin gene, found in a 3-year-old Tunisian girl who had Hb Bart's (gamma4) at birth, later on presenting with moderate @PHENOTYPICFEATURE$, microcytosis and hypochromia.	has_symptom
+33ef54077e01844bc6d4c79d8ee299d13aac4618	Two interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with @DISEASE$, @PHENOTYPICFEATURE$, psychomotor delay and minor facial anomalies.	has_symptom
+8a028fbb2e3b97b2951c2206e662fee96e34a58d	Here, we present clinical and molecular findings in a male patient with clinical signs of @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, microcephaly, and facial dysmorphism.	has_symptom
+cf4d0d54505d4ecd35d3a163180c471c6cb4b9e0	Here, we present clinical and molecular findings in a male patient with clinical signs of Dent disease, developmental delay, @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	false
+1d88b297c8cacb25f0369e6d407da63829f65008	Here, we present clinical and molecular findings in a male patient with clinical signs of @DISEASE$, developmental delay, short stature, @PHENOTYPICFEATURE$, and facial dysmorphism.	false
+6866b7b286d23776fd63ee52cee62cc697c21ecc	Here, we present clinical and molecular findings in a male patient with clinical signs of @DISEASE$, developmental delay, short stature, microcephaly, and @PHENOTYPICFEATURE$.	false
+52bf5f20f174dece2356313a10cde71be9a6258f	Here, we present clinical and molecular findings in a male patient with clinical signs of Dent disease, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, and facial dysmorphism.	false
+c54d9f7a3732bc697d74df4b179ca7b9f9821af9	@DISEASE$ (CBS) is an akinetic rigid syndrome with asymmetric onset and progression with at least one basal ganglia feature (rigidity, limb dystonia or @PHENOTYPICFEATURE$) and one cortical feature (limb apraxia, alien hand syndrome or cortical sensory loss).	has_symptom
+a381f49c9dee869b61a4191991e60a7cf329c2fe	Three years later, she developed Balint's syndrome, Gerstmann's syndrome, left alien hand syndrome, smooth asymmetric (left) rigidity, cortical sensory loss, and spontaneous @PHENOTYPICFEATURE$ of the left arm, which suggested a final diagnosis of @DISEASE$.	has_symptom
+765ceb7736758b36012f184862d56baa40d407b7	The late endo-/lysosomal P-type ATPase ATP13A2 (PARK9) is implicated in Parkinson's disease (PD) and @DISEASE$, early-onset atypical @PHENOTYPICFEATURE$.	has_symptom
+eec8fdc7d3ecad9ffbf74df1852ca9c28955447d	The role of @PHENOTYPICFEATURE$ and type 2 diabetes mellitus in the development of male obesity-associated @DISEASE$.	has_symptom
+760d010745b7ee06b2e8028d8c170c941802f860	The role of obesity and type 2 diabetes mellitus in the development of male @PHENOTYPICFEATURE$-associated @DISEASE$.	has_symptom
+e2804f2fe20842163ad8b59fc06b6e92ac9a0371	To evaluate clomiphene citrate (CC) treatment of adult men with male @PHENOTYPICFEATURE$-associated @DISEASE$ (MOSH).	has_symptom
+72754be64d9afd3fa85d49f3d84f6475de71a7a2	A quarter of men with @PHENOTYPICFEATURE$ or type 2 diabetes have @DISEASE$.	has_symptom
+915a68b9f920ade202a4bdfc81988a8ca84da8ce	Update: @DISEASE$ in type 2 diabetes and @PHENOTYPICFEATURE$.	has_symptom
+e17cdcac7ada46b3441714836048dec71ccef4e9	In this study, we evaluate the clinical effects of aromatase inhibition in @PHENOTYPICFEATURE$-related @DISEASE$ hypotestosteronemia (OrHH).	has_symptom
+4724ac1bc6ed591ebc6464a29e848366a96bf59c	Our data suggest resveratrol appears to have the potential for therapeutic approaches targeting male @PHENOTYPICFEATURE$-associated @DISEASE$.	has_symptom
+1f3ab3cfffa4559ffdfe95659432c76c36a0a362	Body weight loss reverts @PHENOTYPICFEATURE$-associated @DISEASE$: a systematic review and meta-analysis.	has_symptom
+5eb1b3fa22670d13e4556adf24c7434a8bcf714e	The patient showed neonatal hypotonia, hyperphagia, @PHENOTYPICFEATURE$, @DISEASE$, hypothyroidism, strabismus.	has_symptom
+ca4f0f3056de6df7a395474389632249fd972e87	Somatic and psychological effects of low-dose aromatase inhibition in men with @PHENOTYPICFEATURE$-related @DISEASE$ hypotestosteronemia.	has_symptom
+d4c80ddf83e704d83940803f26885774d8f92cef	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and primary hypogonadism predominately with age.	has_symptom
+bc9e4aef05876feb93132416b31c093cfc9e147f	@PHENOTYPICFEATURE$ (NSCLC) is reported the most common subtype of @DISEASE$.	has_symptom
+53706320d50353c38379701b032a2353225c0d95	@PHENOTYPICFEATURE$ (NSCLC) is the most prevalent type of @DISEASE$.	has_symptom
+0a27b3be9430d362ad6eb5702746ec488ddfabc6	@PHENOTYPICFEATURE$ (NSCLC) is the predominant type of @DISEASE$ in the world.	has_symptom
+5d6afdefda64920f382d3de9753c29d3680c4dc1	@PHENOTYPICFEATURE$ (NSCLC) accounts for approximately 80% of all @DISEASE$ cases.	has_symptom
+0b512c5a8040f9e616de6a9b04bf94adcc1922be	The accuracy of @PHENOTYPICFEATURE$ (NSCLC) staging is fundamental for the management of @DISEASE$ patients.	has_symptom
+853c68826e11067f68f3f4a6f7b551301cb3d4c6	@PHENOTYPICFEATURE$ (NSCLC) is a major subtype of @DISEASE$.	has_symptom
+0c81e03052cfa637edd89d61b5c65ad9676d20c8	Lung cancer represents the leading cause of cancer deaths worldwide, with @PHENOTYPICFEATURE$ (NSCLC) comprising the most common type of @DISEASE$.	has_symptom
+740edbbbe3619ae6f0c2322f38da85286d1f8ea6	@DISEASE$ represents the leading cause of cancer deaths worldwide, with @PHENOTYPICFEATURE$ (NSCLC) comprising the most common type of lung cancer.	has_symptom
+2c72d6a55ad39ee9d2b3e5927a53cc81d4c21c7d	@DISEASE$, especially @PHENOTYPICFEATURE$ (NSCLC), remains one of the leading death-causing malignant tumors worldwide.	has_symptom
+1fac601903eaf2c8507f075ece007e92b59e3200	Pretreatment advanced @DISEASE$ inflammation index (ALI) for predicting early progression in nivolumab-treated patients with advanced @PHENOTYPICFEATURE$.	has_symptom
+95f5e69ffcb0ae496a4afabe1564c2c8adb55683	@PHENOTYPICFEATURE$ (NSCLC) is the most common type of @DISEASE$, accounting for 80-85% of cases.	has_symptom
+efc49833deebbfe83ffb4ffd22b2dd52d430136a	The most frequent clinical features of rifampicin-induced @DISEASE$ were: Anuria, gastro-intestinal (@PHENOTYPICFEATURE$, nausea, vomiting and diarrhoea) and "flu-like" symptoms.	has_symptom
+011bb96b1b560c04550db4dfdc421e0c7b6a41d1	The most frequent clinical features of rifampicin-induced ARF were: Anuria, gastro-intestinal (@DISEASE$, nausea, @PHENOTYPICFEATURE$ and diarrhoea) and "flu-like" symptoms.	false
+7eed534f666e924de220446329cc4aaa867421b4	The most frequent clinical features of rifampicin-induced ARF were: Anuria, gastro-intestinal (abdominal pain, nausea, @PHENOTYPICFEATURE$ and @DISEASE$) and "flu-like" symptoms.	false
+090c64361b26cddb67862d1f5a9f3c9b69e11c6d	The most frequent clinical features of rifampicin-induced @DISEASE$ were: Anuria, gastro-intestinal (abdominal pain, nausea, @PHENOTYPICFEATURE$ and diarrhoea) and "flu-like" symptoms.	false
+43030c6ec007228888227f622118227fb960938a	Popularity of Momordica charantia (MC) in various systems of traditional medicine for several ailments (antidiabetic, abortifacient, anthelmintic, contraceptive, dysmenorrhea, eczema, emmenagogue, antimalarial, galactagogue, gout, jaundice, @PHENOTYPICFEATURE$, kidney (stone), laxative, leprosy, leucorrhea, piles, pneumonia, psoriasis, purgative, @DISEASE$ and scabies) focused the investigator's attention on this plant.	has_symptom
+befa56bf17b1aa493e25621464377a8cac7db548	In 1970, Aarskog described a rare X-linked developmental disorder characterized by @PHENOTYPICFEATURE$ in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (@DISEASE$).	has_symptom
+c00368267cb965e93523b164dd6c619bbf2d982d	In this article, we describe a large five-generation family with characteristics of the @DISEASE$ as well as of the blepharophimosis @PHENOTYPICFEATURE$ epicanthus inversus syndrome.	has_symptom
+cb3a0a0f27380d18470faadcf95e49b69da9d9b7	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry, and prominent ear crura.	has_symptom
+cb4ffe99999a15841d55592fe696d29009699e37	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including @DISEASE$, facial asymmetry, and prominent ear crura.	false
+dbf2f57f857de1bd673294d0157f5896bf8fda4b	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including @DISEASE$, facial asymmetry, and prominent ear crura.	false
+f374a57e83d4c4f0410f5383041dbb6df3ce0b39	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+75c8f261ac925861dcc5356a42866e58ce25882f	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+3282dcc38383f1387e9582d71fba047f01f40398	Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and @DISEASE$ dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+c73382cfc3c12349b76326f2f339facd2f380c20	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+9aa79dc6b1966069ec2e01ae3ec8a0c261978561	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+5ba750de14c8e50dbc3f8d538dbc1aa9a3b8778e	@DISEASE$, a common autosomal dominant craniosynostosis in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+2875ce87f561e4199d28344ce7733f144450776a	@DISEASE$ is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral @PHENOTYPICFEATURE$, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities.	has_symptom
+1aec332ce8b913c23c1f9fc12cb04245b2cc5225	Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral @DISEASE$, deviated nasal septum, partial cutaneous syndactyly, and various @PHENOTYPICFEATURE$.	false
+10389cfcd278c2077f7677135303e6ab1da193c3	Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous @DISEASE$, and various @PHENOTYPICFEATURE$.	false
+c9f0cce52e781ad1f96f925c372da3c50525a8ff	@DISEASE$ is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various @PHENOTYPICFEATURE$.	false
+06dbe228aac796a930218f6b924f3db6ecf91814	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @PHENOTYPICFEATURE$, and ocular hypertelorism.	has_symptom
+9a727afc8186ae27c6d3f2e621e53c6067a06667	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and @PHENOTYPICFEATURE$.	false
+035b7516be24c86c9f71ec6f0a1528156f744b7d	The most common features of @DISEASE$ described in the literature are synostosis of the coronal suture, @PHENOTYPICFEATURE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism.	false
+6b0948355aaa5b456ce98bf3f7e472c5582ccf9a	The most common features of SCS described in the literature are synostosis of the coronal suture, @PHENOTYPICFEATURE$, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @DISEASE$, and ocular hypertelorism.	false
+45d9e660165ba6407f05b1bae78de69330a4cacc	The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a1352326e2552dd91bdcef85ce8a030a59cce81c	The Saethre-Chotzen Syndrome (@DISEASE$) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, @PHENOTYPICFEATURE$ of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns.	has_symptom
+60c34a8ad206146faf10feeb6345ecc44897a1c4	The Saethre-Chotzen Syndrome (SCS) is characterized by @DISEASE$, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, @PHENOTYPICFEATURE$ and abnormal dermatoglyphic patterns.	false
+ee71527f5345c4a7939bf5a3620705b6654f34ad	The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, @DISEASE$ of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, @PHENOTYPICFEATURE$ and abnormal dermatoglyphic patterns.	false
+100b928f9f1acc5fa24d4f84716b139fede16e83	The Saethre-Chotzen Syndrome (@DISEASE$) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, @PHENOTYPICFEATURE$ and abnormal dermatoglyphic patterns.	false
+df7887e2532b63ffa05b02fdd862c66e8ad93d17	@DISEASE$ is an autosomal dominant disease characterized by craniosynostosis, @PHENOTYPICFEATURE$, and limb and external ear abnormalities.	has_symptom
+0c99333263e98a0e092147fae9951710063987ab	Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, @PHENOTYPICFEATURE$, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of @DISEASE$.	has_symptom
+9affdcec2374402db0e3b25b436d93e6f2a582b4	@DISEASE$ (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, @PHENOTYPICFEATURE$, and limb abnormalities.	has_symptom
+9de591a0532b9a058c9606c681fe76caf92a0347	Saethre-Chotzen syndrome (@DISEASE$) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, @PHENOTYPICFEATURE$, and limb abnormalities.	has_symptom
+9b3b5a33bd5ed50e35eb6a82faee3d1ecf253923	Saethre-Chotzen syndrome (@DISEASE$) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and @PHENOTYPICFEATURE$.	false
+357124cae4e6f66fddcc48929229ed3e6a574cd5	Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8b07ed6e26a05f3603d04b26a4812b397d421b12	@DISEASE$ (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and @PHENOTYPICFEATURE$.	false
+8ff97308d39b5cf9d537a2647e94249e76327001	The study showed that the important features of @DISEASE$ are brachycephaly (occurring in 74 percent of patients), a broad, depressed nasal bridge (65 percent), a high forehead (56 percent), @PHENOTYPICFEATURE$ (53 percent), and prominent auricular crura (56 percent).	has_symptom
+fb607bfdb63a285e3f7b1f9acc66b13cd1a2ab9a	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including @PHENOTYPICFEATURE$, facial asymmetry and prominent ear crura.	has_symptom
+5c3d2f7f6307cacb051675dbe7cf6158bc79ffcf	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+4c3874734203e7d2cab6304036667473fc858403	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+893e2e3c3ccb03641b6a49a16462ef17fbc03133	@DISEASE$ (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+a9ece551528267bbba46c81635cbec8ef5446404	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+f3c9e12039549ed3d215b7f47c4291d176fad696	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including @DISEASE$, facial asymmetry and prominent ear crura.	false
+4d2e3786365fb991aac9cf07c8777e2f94222342	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+1f4265e59eff3c218638708ba58d4da96a98e783	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including @DISEASE$, facial asymmetry and prominent ear crura.	false
+b062ad0318d47a614507d186fb3641a8e79fbca7	@DISEASE$ (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+95915f09cd117a378a8db9c85a97a864508cc33e	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+79fdf53b2f737ac23ffcda3be73b12efacab1e23	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+f259a6165d84871e327ed968b399f677532a30c4	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+34d45868839b05492efc12b81e2eb2e46f1ac645	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including @DISEASE$, facial asymmetry and prominent ear crura.	false
+14c853393dd2b7f1e622b907d11943d49a379039	Fourteen cases of @DISEASE$ are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with @PHENOTYPICFEATURE$ in one and hypoplastic extra middle finger in another one).	has_symptom
+e77636e874259445aaa6f32677634e39dc531249	Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, @PHENOTYPICFEATURE$ with @DISEASE$ in one and hypoplastic extra middle finger in another one).	false
+32c38eb2971a3f6661607196e30ee0b2b7aa054e	Fourteen cases of @DISEASE$ are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, @PHENOTYPICFEATURE$ with nail hypoplasia in one and hypoplastic extra middle finger in another one).	false
+43ca2d7b66568390ad0788f793ab7c1320251fc1	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, growth retardation, bleeding tendency, @PHENOTYPICFEATURE$, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia.	has_symptom
+eabd4b43c1228f2e8870668cb63abc67dd99151d	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, @PHENOTYPICFEATURE$, hyperlipidemia, impaired platelet function plus @DISEASE$.	false
+99c72332551c6715f8acdb9d6ee4c189fde815c6	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia.	false
+fc0fe7fc4ce852578609a45892a9ee9ea993d735	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, @DISEASE$, impaired platelet function plus neutropenia.	false
+23ccf428fdc3b860154a8139fa3fc8cfdb74873c	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, @DISEASE$, hyperlactacidemia, @PHENOTYPICFEATURE$, hyperlipidemia, impaired platelet function plus neutropenia.	false
+a1ed5b885cdf71baf78ef8e800e8b9a229367d92	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, @PHENOTYPICFEATURE$, hyperlipidemia, impaired platelet function plus neutropenia.	false
+fe4e7a0e3424c424231afd53dc317e7719d3e9ed	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, @PHENOTYPICFEATURE$, @DISEASE$, impaired platelet function plus neutropenia.	false
+3464a613b44b333325ddc8e3f44e985a915d7932	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus @DISEASE$.	false
+c2e572ee1bc97cf5c09c9a08c7a5ec06fdfe1830	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, @DISEASE$, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia.	false
+ea5666d589da3f109b86267fead39efa60cfee5a	@DISEASE$ (GSD-Ia) stems from glucose-6-phosphatase (G6Pase) deficiency and causes @PHENOTYPICFEATURE$, hepatomegaly, hypercholesterolemia and lactic acidemia.	has_symptom
+d428ae0a756376b31d281d0d5e772420b7e18d36	Besides profound @PHENOTYPICFEATURE$ with hyperlacticemia, @DISEASE$ (GSD Ia) presents hypertriglyceridemia that is often resistant to dietary treatment with cornstarch.	has_symptom
+5cd048babc076d88131990222106f8cd18d5a173	@DISEASE$, also known as cerebello-trigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parietal @PHENOTYPICFEATURE$.	has_symptom
+366623c47fba2ef4c1afbcd88945ed00ad8b1b61	@DISEASE$ is a rare neurodegenerative lysosomal storage disorder that usually presents during the first year of life with severe mental retardation, delayed motor milestones and @PHENOTYPICFEATURE$.	has_symptom
+c154de3eaec948492c0c926a109d2300d140c8ae	Mucolipidosis type IV is a rare neurodegenerative @DISEASE$ that usually presents during the first year of life with @PHENOTYPICFEATURE$, delayed motor milestones and corneal opacities.	false
+db16d2a42113e573806f11497b116aa8d1e576b1	@DISEASE$ is a rare neurodegenerative lysosomal storage disorder that usually presents during the first year of life with @PHENOTYPICFEATURE$, delayed motor milestones and corneal opacities.	false
+2377cb7ae9808d03ac1dd52e050447494298d835	Mucolipidosis type IV is a rare neurodegenerative lysosomal storage disorder that usually presents during the first year of life with @PHENOTYPICFEATURE$, delayed motor milestones and @DISEASE$.	false
+69cdc8c4d3f91978cc6846fa0065c665bab93550	@DISEASE$ is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, @PHENOTYPICFEATURE$, anteverted nares, low-set and posteriorly rotated ears, vertebral anomalies and absent clavicles.	has_symptom
+e02783d73d333233f8279414dfd4ba603751a7dc	@DISEASE$ is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, @PHENOTYPICFEATURE$ and absent clavicles.	false
+d1495ef9ffded5deffb09a85eb583e61dce970b8	Crane-Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, @DISEASE$, anteverted nares, low-set and posteriorly rotated ears, @PHENOTYPICFEATURE$ and absent clavicles.	false
+2215c4ba08f20cb22e01848000458bb904808676	Crane-Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting @DISEASE$, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, @PHENOTYPICFEATURE$ and absent clavicles.	false
+64242c268bb6d48c12674b08e131ae5601b9b6cc	Crane-Heise syndrome is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising @DISEASE$, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, @PHENOTYPICFEATURE$ and absent clavicles.	false
+3c8347c750b0ba83e5d4ec684003100a613677ea	@DISEASE$ (WAS), also known as ophthalmo-acromelic syndrome or @PHENOTYPICFEATURE$-syndactyly, is a rare congenital disorder that segregates in an autosomal recessive pattern.	has_symptom
+790599396eb7840b54af3d3fc26c6743ef288ad8	@DISEASE$ (WAS), also known as ophthalmo-acromelic syndrome or anophthalmia-@PHENOTYPICFEATURE$, is a rare congenital disorder that segregates in an autosomal recessive pattern.	false
+421dbda11b089f5e4127a6bb2da804363d112086	Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic @DISEASE$ or anophthalmia-@PHENOTYPICFEATURE$, is a rare congenital disorder that segregates in an autosomal recessive pattern.	false
+772a6fd60b55f9ec7d48cc5f180931629f4ef574	Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic syndrome or @DISEASE$-@PHENOTYPICFEATURE$, is a rare congenital disorder that segregates in an autosomal recessive pattern.	false
+de2ab52240826ba905fcb3d8e266243249e4d3d9	@DISEASE$, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and?@PHENOTYPICFEATURE$-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	has_symptom
+ddb614718095ab2bcb34d4600887240bafe2cc1d	Waardenburg anophthalmia syndrome, also known as @DISEASE$, ophthalmoacromelic syndrome, and?@PHENOTYPICFEATURE$-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	has_symptom
+fd2c0b32312d12dbcc7800ff9b24fee74d9b7cfc	Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, @DISEASE$, and?@PHENOTYPICFEATURE$-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	has_symptom
+19b5b22c52633d8630048e70a0bfc8b13c380cdc	Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, @DISEASE$, and?anophthalmia-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+99e19cd71573f0745076f862188c71a41d0fd15a	Waardenburg anophthalmia syndrome, also known as @DISEASE$, ophthalmoacromelic syndrome, and?anophthalmia-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+290200cba6b2b87f5ba4d4e8c347cf30e92cc532	@DISEASE$, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and?anophthalmia-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+4e2a2aefee4327b6503827eb47cc3acb572dfce8	Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and?@DISEASE$-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+71ffe33d319aae6dc522f8a3dc4119a645ccfd7a	Ophthalmo-acromelic syndrome (OAS), also known as @DISEASE$, is defined by the combination of eye malformations, most commonly bilateral @PHENOTYPICFEATURE$, with post-axial oligosyndactyly.	has_symptom
+ac6d98250c325d031652b0680ff7775cda147a94	Ophthalmo-acromelic syndrome (@DISEASE$), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral @PHENOTYPICFEATURE$, with post-axial oligosyndactyly.	has_symptom
+d1b9780e95cb130383568a32b947e01ec0caa0da	IgA Cutaneous @PHENOTYPICFEATURE$ Post-Renal Transplantation in a Patient With Long-Standing @DISEASE$: Case Report and Literature Review.	has_symptom
+90d8506f0d05099fb74ecfe90b4d0b70a419c9ed	The clinical patterns of @DISEASE$ and HSPN were similar, but extra-renal manifestations were seen more often in HSPN, all of them had skin @PHENOTYPICFEATURE$, 59% had gastrointestinal symptoms and 47% suffered from arthralgia.	has_symptom
+d31f2225b6a96560dbe8deb096ced90c6608116a	The clinical patterns of IgA nephropathy and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin @PHENOTYPICFEATURE$, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only abdominal pain in 3.2% children with @DISEASE$.	has_symptom
+44fc9a6838d5323c0598a4b179bec1dd5ac7e24c	The clinical patterns of @DISEASE$ and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin @PHENOTYPICFEATURE$, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only abdominal pain in 3.2% children with IgA nephropathy.	has_symptom
+ac09c759c1dfb5960b1dc529e76d6109a1796386	The clinical patterns of IgA nephropathy and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin purpura, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only @PHENOTYPICFEATURE$ in 3.2% children with @DISEASE$.	false
+5fcb794dcf2b718903306d28353a49e9c9415d88	The clinical patterns of @DISEASE$ and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin purpura, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only @PHENOTYPICFEATURE$ in 3.2% children with IgA nephropathy.	false
+2be5a54af12346c635655a1330b0a75de41ba37c	The clinical patterns of IgA nephropathy and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin @DISEASE$, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only @PHENOTYPICFEATURE$ in 3.2% children with IgA nephropathy.	false
+33e21e1aafab87cf477f8a1bbd0cd365b43f74ad	@DISEASE$ is characterized by midface hypoplasia, syndactyly of the hands and feet, @PHENOTYPICFEATURE$ of eyes, steep and flat frontal bones, and premature union of cranial sutures.	has_symptom
+e7de6bb1a642ef55954d938374a86bf5486c3bdd	@DISEASE$ is characterized by midface hypoplasia, @PHENOTYPICFEATURE$ of the hands and feet, proptosis of eyes, steep and flat frontal bones, and premature union of cranial sutures.	false
+055c6a9c1a078441b04883f4988b346f1fc310f4	Apert syndrome is characterized by midface hypoplasia, @PHENOTYPICFEATURE$ of the hands and feet, @DISEASE$ of eyes, steep and flat frontal bones, and premature union of cranial sutures.	false
+e107a1d6574fe506c860ac804172cba5e5a242bc	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, @PHENOTYPICFEATURE$, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	has_symptom
+01b1eb7610114f64817ec2f43b0a0959ac1420cc	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or @PHENOTYPICFEATURE$, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+db32b75af6277ae54e65322607924f559fa77111	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, @PHENOTYPICFEATURE$, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+4b71c55b50e99395116d30dc17170488763cebb1	Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, @DISEASE$, @PHENOTYPICFEATURE$, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+aac948d6655b273373fab2ac375d6e8e5dfaf5d9	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, @PHENOTYPICFEATURE$ and symmetrical syndactyly of the hands and feet-are present.	false
+cd043f1c7832cfec342a918e61f34a474389241a	Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, @DISEASE$, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, @PHENOTYPICFEATURE$ and symmetrical syndactyly of the hands and feet-are present.	false
+118ff94e8f3e231d2343a99b6c85f8da33663bb4	Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, @DISEASE$, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or @PHENOTYPICFEATURE$, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present.	false
+d642e70a454a5641c761fa622ee9afcce6110d0b	An illustrative case of a 5(1/2)-year-old girl with @DISEASE$ is presented wherein her ventilatory obstruction and @PHENOTYPICFEATURE$ were significantly improved.	has_symptom
+c0d8419113e5b91fc995e65f69530508ac1fbb00	Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of seizures, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with @DISEASE$ in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), @PHENOTYPICFEATURE$ (30%), psychotic symptoms (17%), and thrombotic events (21%).	has_symptom
+819a64bbee5bac02089ce55102fe091b1ae750cb	Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of @PHENOTYPICFEATURE$, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with @DISEASE$ in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), encephalopathy (30%), psychotic symptoms (17%), and thrombotic events (21%).	false
+2308f882bb890f546fa89e01f0c3e00732b44ec1	Upon diagnosis, both patients received metabolic treatment comprising B9, B12 and betaine which has stopped the occurrence of @PHENOTYPICFEATURE$, allowing discontinuation of anti-epileptic drugs.Among 24 reviewed adolescent/adult onset patients with MTHFR deficiency in the literature, clinical manifestations included gait disorder (96%, from motor central or peripheral origin), cognitive decline (74%), epileptic syndromes (50%), @DISEASE$ (30%), psychotic symptoms (17%), and thrombotic events (21%).	false
+4418c8fb1623ca9d66e8b861c6e06c92124bfd0e	@DISEASE$ caused @PHENOTYPICFEATURE$ at the same time in identical twin girls.	has_symptom
+e5bf2759e8df4fa012af101e8611d8f6ebf1f2fe	@DISEASE$ is a chronic tubulo-interstitial nephritis which progress to terminal @PHENOTYPICFEATURE$.	has_symptom
+5e2297ef37dcd3c8d9b3efaccfea25681b92cf64	@DISEASE$ is an important cause of @PHENOTYPICFEATURE$ in adolescent patients.	has_symptom
+75b2f561e0f96b1c62b0786a25869d4661a9b34f	@DISEASE$ is the most common genetic cause of @PHENOTYPICFEATURE$ in children and young adults.	has_symptom
+562d15ce830979ad77539f7345e1be350d5e89f2	Juvenile @PHENOTYPICFEATURE$ is commonly caused by the ciliopathy @DISEASE$ (NPHP).	has_symptom
+d2abbf3eacc532bfbdbeb607b637a50251f41536	@DISEASE$ is a chronic interstitial nephropathy which in childhood may lead to terminal @PHENOTYPICFEATURE$.	has_symptom
+2b2476a9a7c3cf5a5d4f9c32a9261f9736d28288	Nephronophthisis--@DISEASE$ disease is a progressive chronic tubulointerstitial nephritis leading to terminal @PHENOTYPICFEATURE$.	has_symptom
+d5c18486b865982294e87c7a49def31b6ca91a0e	@DISEASE$--medullary cystic kidney disease is a progressive chronic tubulointerstitial nephritis leading to terminal @PHENOTYPICFEATURE$.	has_symptom
+43f5f6173765dc432f7e1ab374d63172200b8547	Diagnosis of @DISEASE$ (MCD) was made based on typical ultrasound appearance, sodium wasting and acidosis out of the proportion to the degree of @PHENOTYPICFEATURE$.	has_symptom
+6b2b8e57a9cc34159ac2f9a56a70bd87cd3dbc95	@DISEASE$ is an autosomal recessive cystic kidney disease that leads to @PHENOTYPICFEATURE$ in childhood or adolescence.	has_symptom
+26d81c73463f3f36f1e6d7baedde30129b1fb296	@DISEASE$ (MCD) is an uncommon renal disease with adult onset and autosomal inheritance, eventually progressing to terminal @PHENOTYPICFEATURE$.	has_symptom
+ed92184ded2bc1ced65180dc43cdb99fbc9a387e	Nine patients had @DISEASE$, including 4 with @PHENOTYPICFEATURE$.	has_symptom
+06e772222aeca95c5737f2f83c138a05ab915cd6	We conclude that, in addition to growth hormone deficiency and normal variant @PHENOTYPICFEATURE$, @DISEASE$ and growth hormone insensitivity syndrome are significant causes of short stature in India.	has_symptom
+6911468e70e877d228772c14b0f65ffa2a79be2f	We conclude that, in addition to growth hormone deficiency and normal variant short stature, @DISEASE$ and growth hormone insensitivity syndrome are significant causes of @PHENOTYPICFEATURE$ in India.	has_symptom
+3c9464dece5ac5588b11caca383b72b9c1816f8d	A 9-year-old female child was initially diagnosed of having nephrocalcinosis with @DISEASE$ (dRTA) while investigating for @PHENOTYPICFEATURE$.	has_symptom
+d3089e7bcf5bbe08e5d5de5150c2ff7fe9efe528	In addition to this triad, other variable features of @DISEASE$ have been described, including adermatoglyphia, hypohidrosis or hyperhidrosis, and @PHENOTYPICFEATURE$.	has_symptom
+60d6c9d205876c0399bc7b123cfbfdf0d10b1dc3	In addition to this triad, other variable features of @DISEASE$ have been described, including adermatoglyphia, @PHENOTYPICFEATURE$, and palmoplantar hyperkeratosis.	false
+d7b818e1ab1b1b032df7a50d2071a8e3f535dae7	In addition to this triad, other variable features of dermatopathia pigmentosa reticularis have been described, including adermatoglyphia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+226ccd1a3408a660096a1368f07e4d6ad27129f7	Naegeli(-Franceschetti-Jadassohn) syndrome and @DISEASE$ are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, @PHENOTYPICFEATURE$ and other ectodermal symptoms.	has_symptom
+62f8cc2b6798ca2ee07edbf4be5191685c3f53a5	We present a patient with the classic features of the @DISEASE$ triad, along with adermatoglyphia, hypohidrosis, and punctate @PHENOTYPICFEATURE$.	has_symptom
+99d12f5982f84ab866e5e2afe402228a0749a1ba	The @DISEASE$ patients exhibited short stature, hypotonia, global developmental @PHENOTYPICFEATURE$ delay, simian crease, and mild dysmorphic features.	has_symptom
+ae1845eb2f2a38c40e2d3941e1d2f74b5d8587c2	The @DISEASE$ patients exhibited @PHENOTYPICFEATURE$, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features.	false
+ce7ec3c1fb323c17d59da09bb97ef0bd1b09a06d	The Xia-Gibbs syndrome patients exhibited @PHENOTYPICFEATURE$, hypotonia, global developmental @DISEASE$ delay, simian crease, and mild dysmorphic features.	false
+76a842cbe58746459f8d741f7d02833eed061241	@DISEASE$ (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental @PHENOTYPICFEATURE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	has_symptom
+e5f6f19e874c98b3598e14140ce7120d9608f081	Xia-Gibbs syndrome (@PHENOTYPICFEATURE$, autosomal dominant 25; MRD25) [MIM 615829] is a rare @DISEASE$ characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+812e5a4c2c958c43cbf2f02be9d31b503c216980	@DISEASE$ (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by @PHENOTYPICFEATURE$, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+36ada3f81a0d53f52edc0fd935adbb3a8c100215	@DISEASE$ (@PHENOTYPICFEATURE$, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+ea5f4da39086e438dfc86e94526e09737376ba9a	Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by @PHENOTYPICFEATURE$, developmental @DISEASE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+3cbe221ffb6546a45d7aa90bef7231ef2f92b95c	Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+ed1747d063b382fea86b44b3d892282bf67cdef2	Xia-Gibbs syndrome (@PHENOTYPICFEATURE$, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental @DISEASE$ delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring.	false
+9031f7266ce1879706a357a930ff9c45fcf8d2d8	@DISEASE$, hypoparathyroidism, and @PHENOTYPICFEATURE$.	has_symptom
+33b11e93f91395f5481c1d69297afeba08f0c3be	A case of a complete @DISEASE$, of early onset, associated with cerebral and cerebellar leukodystrophy and @PHENOTYPICFEATURE$ is reported.	has_symptom
+c0abc18a77a2c5420c93e602857a1fa437c96d29	@DISEASE$ has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, @PHENOTYPICFEATURE$/anophthalmia and postaxial polydactyly.	has_symptom
+0f1b333caa3b48e4bf780424fcb77c3054848d1e	Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad @DISEASE$, microphthalmia/@PHENOTYPICFEATURE$ and postaxial polydactyly.	false
+021d83374800bcbb99a57cafce43e8c47b61449d	Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, @DISEASE$/@PHENOTYPICFEATURE$ and postaxial polydactyly.	false
+80dbc7ca96b5c4c32b3d0188cab68a93ae72a560	@DISEASE$ has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/@PHENOTYPICFEATURE$ and postaxial polydactyly.	false
+e4c41d13118f85a29e07cd87a93b55a2d10298cd	The common features of @DISEASE$ including the clinical triad (@PHENOTYPICFEATURE$, cleft lip/palate, and polydactyly) and non-cyanotic heart defects were always found in our series.	has_symptom
+14e7dd7671b788e2831f56a07ee4e227293b0115	The common features of Patau syndrome including the clinical triad (microphthalmia, @DISEASE$, and @PHENOTYPICFEATURE$) and non-cyanotic heart defects were always found in our series.	false
+369384c21366ea60be1759883bf675b8ed8e6353	The common features of Patau syndrome including the clinical triad (@DISEASE$, cleft lip/palate, and @PHENOTYPICFEATURE$) and non-cyanotic heart defects were always found in our series.	false
+c00b7359c5a744de3dda766f9e4eef99a77e364e	The common features of @DISEASE$ including the clinical triad (microphthalmia, cleft lip/palate, and @PHENOTYPICFEATURE$) and non-cyanotic heart defects were always found in our series.	false
+4e1b786a6a3de4ee7cccd79c0cf61b0b7991f6d9	The common features of Patau syndrome including the clinical triad (microphthalmia, cleft lip/palate, and @PHENOTYPICFEATURE$) and non-cyanotic @DISEASE$ were always found in our series.	false
+7065f57b47a0ecb1c1e08ef7f415e5ac79440f5c	On the other hand, @DISEASE$ has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, @PHENOTYPICFEATURE$, pyramidal signs, and cognitive impairment.	has_symptom
+e1ef3382a1cd107b03ce7cfea47213e31c5bbb54	On the other hand, @DISEASE$ has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, myoclonic jerks, pyramidal signs, and @PHENOTYPICFEATURE$.	false
+69efccf76bdc926a2e840a53f5f7ad2b4d0cf68d	On the other hand, Kufor-Rakeb syndrome has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, @DISEASE$, pyramidal signs, and @PHENOTYPICFEATURE$.	false
+c1509c46242880d26e69f3864334910d9e8a578c	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	has_symptom
+2d6af3173a44bfc54e466ee63064fba2c6da5b86	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+72524507ab2671328a3ecd296a9b2dd9590865d5	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @DISEASE$.	false
+1c43e577fb847530ffa23e0d868fc499e597ddc0	Micro syndrome is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+75f96ffc549f005410c9b5ba7e16c4c8206714df	@DISEASE$ is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+0de8e31494f2a2f471de6d9021eb556068cb73b8	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+16610b10184de422c5ec5d714c9edd94a9818465	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital @DISEASE$, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+78ac2e6f7a87fc01fcf0d5ca455c6818d45ea1c6	Micro syndrome is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @DISEASE$.	false
+48fb785dd44b9f962de64dd3284834697110b5ca	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and @DISEASE$.	false
+59c6568e3bee83cb34b9d566287994b8f87e0b70	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+ccf8375c5474288d5cba337eb01e074eedd3aea9	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	has_symptom
+b808dc1465567874a34342cff4f91e6f52a33577	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+f2ef282f1ec4956b5bcaf7f097a1a2b99c3c3be7	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+a15632efea705e7e41e4b1451dee5e825fb5dfc1	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+54d49767c5de9d3b27274e9420f9e4b98f024210	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and @DISEASE$.	false
+f0e5dd178855d24b7170aeb5b7af87367330d7ff	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+f24dad9c9e06daba3a572043d9982649a9675b87	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+25edccebfc3e2458e2b657bbfdf005658298cbd7	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+41f1d5c60376bae58b6907901a73dafb81ab1038	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+d99d0057ae3fb8963efff1794ad919989276985a	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+96ecfef978fffdfd49d36da7e34c3c9f207dd8d5	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+12f6137478cf3d659688809739dbdd59061bcfcc	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and @DISEASE$.	false
+8ffc36bd4514a08ddd4fc4c4f124c4afcc64c136	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and @DISEASE$.	false
+9bf32cb843db1fb499457d4fdbe7fdb194d85654	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+e661a208b5c34c13f3e6f2d6a8e72dd49b1fbfe1	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+ec27519991ae3cd66b0e1adf4c613adae4198a89	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+294fa9b4e2036803e091a626c3e5d8aecd52d900	Congenital cataract, microphthalmia, hypoplasia of corpus callosum and @PHENOTYPICFEATURE$: report and review of @DISEASE$.	has_symptom
+636b90bdde590c31d691a62271ad409acf54eb23	Congenital cataract, @PHENOTYPICFEATURE$, hypoplasia of corpus callosum and hypogenitalism: report and review of @DISEASE$.	false
+eadd332e3d6a394b54469f0be2cc701ce82aa53e	Congenital cataract, @PHENOTYPICFEATURE$, hypoplasia of corpus callosum and @DISEASE$: report and review of Micro syndrome.	false
+854c6fb0d0add2d820c19debd6e5b5cd815ae901	Congenital @DISEASE$, @PHENOTYPICFEATURE$, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome.	false
+c4606547de20a0ad2b5ef246a5f2719ede3ea581	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	has_symptom
+c34db28e7dbd281727af58075671d08c5f66c627	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and @DISEASE$.	false
+87039a9cceeae7c4924d8cbcd008dfab05655307	The characteristics of Micro syndrome are @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @DISEASE$.	false
+c71da9e69642b6e17d5c4b7dd5b0bb624fe254e6	The characteristics of Micro syndrome are @PHENOTYPICFEATURE$, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+30b9dca391773bff5d091c5dfd97405d491f4c4c	The characteristics of @DISEASE$ are mental retardation, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+2b805382a8c5f37c63436550cea76789f3cbaf49	The characteristics of Micro syndrome are mental retardation, @PHENOTYPICFEATURE$, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+4d79c6f2532ba9d20d5402ab89b1dd479be39159	The characteristics of Micro syndrome are mental retardation, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @DISEASE$.	false
+430b26da5e09398b5a950295c3308223a63cb6fb	The characteristics of @DISEASE$ are @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+47853bb66d8dd0e9929e95f74b34629195e3ab34	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+105f7182cb86fe46c5a88d05cb3e884be30cd360	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital @DISEASE$, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+28bfba73c038a3a9cd29ed7776730a69e359d455	For instance, human enteroviruses can cause hand-foot-and-mouth disease, herpangina, myocarditis, acute flaccid paralysis, acute hemorrhagic conjunctivitis, severe neurological complications, including brainstem @PHENOTYPICFEATURE$, meningitis and @DISEASE$, and even death.	has_symptom
+b18b13e6329212f91fdbf9860162f5bf79df0ef6	As @PHENOTYPICFEATURE$ is a prominent feature of @DISEASE$, such patients might seek bariatric surgery.	has_symptom
+783800004903238abb49904eda959c02cae8aa42	Pseudohypoparathyroidism type 1A (PHP1A) is characterized by resistance to multiple hormones, the @DISEASE$ phenotype, @PHENOTYPICFEATURE$, and developmental delay.	has_symptom
+feed3a031f714bf959ed1e23d5d2593492dc493c	@DISEASE$ (PHP1A) is characterized by resistance to multiple hormones, the Albright Hereditary Osteodystrophy phenotype, @PHENOTYPICFEATURE$, and developmental delay.	has_symptom
+c875b016d71cf6d9ae22a917fdbf334e474981c8	Children with @DISEASE$ (PHP-1a) develop early-onset @PHENOTYPICFEATURE$.	has_symptom
+0363ef32b0e057527e4a46a6aaf92b5a9fe88e81	Short stature, @PHENOTYPICFEATURE$, and growth hormone deficiency in @DISEASE$.	has_symptom
+a205c06ef558e458506e6775047626888b8e5db5	@PHENOTYPICFEATURE$, @DISEASE$, and growth hormone deficiency in pseudohypoparathyroidism type 1a.	false
+f77394b15acd2b3135a5a7178b434352bd96f745	@PHENOTYPICFEATURE$, obesity, and growth hormone deficiency in @DISEASE$.	false
+9322cd32a58813f4fba61769b30ad7e5a49e6267	Typical features of @DISEASE$ (AHO) such as round face, @PHENOTYPICFEATURE$, and shortened 1st, 4th and 5th metacarpals were found.	has_symptom
+500cf86691eb4b68f1a9e40eec3a8c0074a4f277	Physical findings showed typical features of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, brachydactyly and dental hypoplasia.	has_symptom
+bafe4154d22311c167455cb705e9955e11493e1a	Physical findings showed typical features of @DISEASE$, including short stature, obesity, @PHENOTYPICFEATURE$ and dental hypoplasia.	false
+ca00f653ec47d5a3b9dc8eb149ead0b1e6eb105b	Physical findings showed typical features of @DISEASE$, including @PHENOTYPICFEATURE$, obesity, brachydactyly and dental hypoplasia.	false
+5671ab9ae112533fb9d6a70710ced2312082b705	Physical findings showed typical features of Albright's hereditary osteodystrophy, including short stature, @DISEASE$, @PHENOTYPICFEATURE$ and dental hypoplasia.	false
+7d1c41ed094f4fa002f0458a386f3cda88837e2d	Physical findings showed typical features of Albright's hereditary osteodystrophy, including @PHENOTYPICFEATURE$, @DISEASE$, brachydactyly and dental hypoplasia.	false
+f2a2b9ae38787d90296d0948eb7016f76950967c	@DISEASE$ (AHO) is a genetic disorder characterized by short stature, skeletal defects, and @PHENOTYPICFEATURE$.	has_symptom
+c73872a29199aac5e698f41425d0cb5433ca8edc	Albright hereditary osteodystrophy (AHO) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, skeletal defects, and obesity.	false
+94991af0a6aa99a28d8c986f7be1228ab5f804d3	Albright hereditary osteodystrophy (AHO) is a genetic disorder characterized by @PHENOTYPICFEATURE$, skeletal defects, and @DISEASE$.	false
+7910ee99a1ff0baefe043a15d72c7ab536989ec1	@DISEASE$ (AHO) is a genetic disorder characterized by @PHENOTYPICFEATURE$, skeletal defects, and obesity.	false
+2b076eaa29ee92aa5b7456b9ae5d5343f248d348	Patients with @DISEASE$ (PHP-1a) develop early-onset @PHENOTYPICFEATURE$.	has_symptom
+256ca937d1adfb1036c30cb6172e35b92295b593	Typical features of @DISEASE$ (AHO), including round face, @PHENOTYPICFEATURE$ and delayed psychomotor development, were found.	has_symptom
+e8b13a67f02ae96897a3cffdb6af0aef03899833	Heterozygous G(s)alpha mutations lead to @PHENOTYPICFEATURE$ in @DISEASE$ (AHO) patients and in mice.	has_symptom
+7c6036017631e2f1b7ede9c8a42b067fd2816891	Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, @PHENOTYPICFEATURE$, epicanthus inversus syndrome) and @DISEASE$.	has_symptom
+eb5e64a95988fbb26fbd40d9a55294f819c53676	The only infant with the deletion of 3 alpha-globin structural genes had 25% Hb Bart's associated with a moderate @PHENOTYPICFEATURE$ at birth and developed the clinical picture of Hb H disease. Carriers of nondeletion @DISEASE$ (alpha alpha/alpha alpha th) showed variable amount of Hb Bart's always associated with thalassemia-like red cell indices.(ABSTRACT	has_symptom
+d41924070d3fbd9da9ad432a5ac9c5074c80246b	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and @DISEASE$ share the clinical features of @PHENOTYPICFEATURE$, the same spectrum of congenital heart defects, and a similar pattern of craniofacial anomalies.	has_symptom
+c96c43f64e1d5569bc6bafd4be156c5f25492115	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of @DISEASE$, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+d9354ff7ddbfe366cb4eeb827e9de5f9e70b4527	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, @DISEASE$ and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+4a771684a7dceec35c18fa468c6a4ec289f71a53	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and @DISEASE$ share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+d1ae88708f4ba9800b82c57d71c58498469aa30b	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+afb8e2f8cc214c412c4705f3009ba8fc7630b553	@DISEASE$ (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+798b662cf5c6c755053463f2a166bafbf51ad984	@DISEASE$ (FND) is a genetically heterogeneous malformation spectrum with marked @PHENOTYPICFEATURE$, broad nasal tip and bifid nose.	has_symptom
+2084648e610647d0819eb8a951da23c1cce4b5eb	@DISEASE$ is defined as @PHENOTYPICFEATURE$, telecanthus and broad bridge of the nose with absent or bifid tip of the nose.	has_symptom
+fd9026a69d016d60f74bc3960fb9a2b0e410c32d	[Greig's @PHENOTYPICFEATURE$ and @DISEASE$: clinical and etiopathogenetic observations in 3 cases].	has_symptom
+1ae544378127b2a48860b4d30d966f4976040fc2	@DISEASE$ associated with orbital @PHENOTYPICFEATURE$ and polysyndactyly.	has_symptom
+db9321d40915872444d5465f048b3214b266fe56	Comments on @DISEASE$, @PHENOTYPICFEATURE$ and dystopia canthorum.	has_symptom
+00381f939b10cb679ece9a9d13f48ff700643d6c	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes @PHENOTYPICFEATURE$, coronal craniosynostosis, @DISEASE$, and digital anomalies.	has_symptom
+962957cb7b13fc01f1ea85cd218974c01aadcc87	@DISEASE$'s (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+4a3a0ce45bf84700347fa9cc266d230f4d06429b	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal @DISEASE$, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+82a0846b91756f2a0fb5d28022bcb0c410babb32	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2e818fa8490563c3e02cd84ac025910d75fd0643	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes @DISEASE$, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+a09920bdef9c65795b34f2779efe4f7584ef511c	We present a patient with @DISEASE$ who desired correction of her @PHENOTYPICFEATURE$.	has_symptom
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+654f910a4ae03d40b044160c561c6dc3dda35837	Antenatal diagnosis of @DISEASE$: sonographic demonstration of cleft lip and @PHENOTYPICFEATURE$.	has_symptom
+b665c03c0b0ab98802def1acc8ad2d60f29a3449	Females have @DISEASE$ and coronal craniosynostosis (fusion of the coronal sutures); in males, @PHENOTYPICFEATURE$ is the only typical manifestation.	has_symptom
+5f9f4b5e43f4b19a777c7dc689185aa9acf48ce5	Missense mutations of HSD10 may cause neurodegeneration related to @DISEASE$, whereas a silent mutation of HSD10 results in @PHENOTYPICFEATURE$, choreoathetosis and abnormal behavior (MRXS10).	has_symptom
+5d59ea68a71a5b9d69382e61239142f88d2f6e52	Apert syndrome is one of the @DISEASE$ and is commonly associated with @PHENOTYPICFEATURE$, but there are contradicting reports regarding the cause.	has_symptom
+b09576ac5972c0f431c71092c8f0b270d555a336	Serious adverse events related to asfotase alfa occurred in three (27%) patients (severe chronic hepatitis; moderate immediate post-injection reaction; and severe @DISEASE$ with severe @PHENOTYPICFEATURE$).	has_symptom
+539c79322245b0f95cbc7759d7142f7b6717fae4	We have characterized a novel autosomal recessive Crouzon-like @DISEASE$ in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and @PHENOTYPICFEATURE$.	has_symptom
+43f1db2b529272703ead6eeb6cd4258f1b015bcd	Most patients with syndromic and complex @DISEASE$ have recurrent otitis media with effusion, causing episodes of @PHENOTYPICFEATURE$ throughout their lives.	has_symptom
+d119f17ac51e1e7747690350709d383bd6432867	Some of the skeletal defects seen in single or double mutant mice resemble defects seen in human skeletal diseases, which suggests that these genes may be candidates that underlie some forms of carpal/tarsal coalition, @PHENOTYPICFEATURE$, scoliosis, and @DISEASE$.	has_symptom
+6b31220a9a8a87f02a2df55ed20b24494a71191b	(2) Classical midline malformations such as @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+f7ad04e5195c1e593c0c99cffd498fda2c391d37	Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+e90110b94d856e2f62abd5e3fa59bb317df1fb19	Diabetes insipidus with impaired osmotic regulation in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9f977499605907d81503218e56f70573938a5f8c	Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (@DISEASE$), schizencephaly or @PHENOTYPICFEATURE$.	has_symptom
+e832552070ff9de96535adff8d8d348afaaedc52	Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, @DISEASE$ (SOD), schizencephaly or @PHENOTYPICFEATURE$.	has_symptom
+819c595e465950170cefc81824592e505f8e6410	These patients were divided into seven basic groups as follows: @DISEASE$; schizencephaly; holoprosencephaly; @PHENOTYPICFEATURE$; chronic, severe hydrocephalus; basilar encephaloceles; and porencephaly/hydranencephaly.	has_symptom
+3a1a6cf4f6207fff72afeb0a8e0ddfe3bb9fe410	We propose midline prosencephalic dysgenesis as a category of malformations including aprosencephaly, holoprosencephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+9111751d86f54b00c6523b74bddcccd460927447	Forty patients were studied: 2 with semilobar holoprosencephaly, 2 with lobar holoprosencephaly, 18 with @DISEASE$ with an intact septum pellucidum, 7 with septo-optic dysplasia with an absent septum pellucidum, 7 with @PHENOTYPICFEATURE$ and 4 patients with isolated pituitary hypoplasia.	has_symptom
+7fb3d8ac70ff9bbd2860bae2bd0417dc44828b29	Forty patients were studied: 2 with semilobar holoprosencephaly, 2 with lobar holoprosencephaly, 18 with septo-optic dysplasia with an intact septum pellucidum, 7 with @DISEASE$ with an absent septum pellucidum, 7 with @PHENOTYPICFEATURE$ and 4 patients with isolated pituitary hypoplasia.	has_symptom
+f229b83a3131e2c14c3bd8cfc11a4e38e006fc62	The clinical and endocrinological findings in 24 children with @DISEASE$ and/or @PHENOTYPICFEATURE$ are described with particular reference to posterior pituitary function.	has_symptom
+685824701c399abd679f72dce826907ab1e8f0d7	We report the first case of @DISEASE$ associated with encephalocele, partial @PHENOTYPICFEATURE$, polymicrogyria and subcortical nodular heterotopia.	has_symptom
+6bfda6548c2d645dc0fe7984f458b877b350537e	Other findings were: Arnold-Chiari malformation, @DISEASE$, Dandy-Walker syndrome, @PHENOTYPICFEATURE$, migration disorders.	has_symptom
+1f50c7c19f0e4d6b46343c4108af0095d06b39cc	With further research, 4 additional forms have been recognized: Finnish (13), Gypsy/Indian (14), Turkish (15)--variants of LINCL, and @DISEASE$ (16), also known as progressive epilepsy with @PHENOTYPICFEATURE$.	has_symptom
+a5bbce0291f68b279e54150375c52301146f6db5	A missense mutation in CLN8 causes progressive epilepsy with @PHENOTYPICFEATURE$ (EPMR) or @DISEASE$, which has so far been reported only from Finland and is now classified as an NCL.	has_symptom
+90f9abd1003da52131e32dde1b8d76a80d669fdd	Four patients with severe cerebral palsy, mental retardation, and @PHENOTYPICFEATURE$ who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the @DISEASE$ in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	has_symptom
+50ee2682c652241ee96f1d3b6b06db845e89e4ec	Four patients with severe cerebral palsy, @PHENOTYPICFEATURE$, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without @DISEASE$, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+1729222e8507e99fcbda21be607d3c0495a90745	Four patients with severe cerebral palsy, @PHENOTYPICFEATURE$, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the @DISEASE$ in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+acb0dbc039e3b42686799376d9fafc5d150709b6	Four patients with severe cerebral palsy, @PHENOTYPICFEATURE$, and @DISEASE$ who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+a8b6b26de226d25ed4a2f20d14e25b96c1a1ce6a	Four patients with severe cerebral palsy, @PHENOTYPICFEATURE$, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included @DISEASE$, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases).	false
+53da4cc41039208d631dd5512b52fb4a0bc10f1b	The patient presented with the typical features of @DISEASE$; hypotonia, brachycephaly, flattened occiput, bilateral prominent medical @PHENOTYPICFEATURE$, flat nasal bridge, protruding tongue, low-set dysplastic ears, short broad hands, bilateral clinodactyly and simian crease.	has_symptom
+5d1f278da96c07ef6ae41a6ba3d57fee24be93cf	Type II mucopolysaccharidosis (MPS II) commonly known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by @DISEASE$, which in turn causes otorhinolaryngological manifestations, including @PHENOTYPICFEATURE$ (SNHL).	has_symptom
+6a8ce2356a0ed9022ddaaf38832ce22467d1cc9f	Type II mucopolysaccharidosis (MPS II) commonly known as @DISEASE$, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, which in turn causes otorhinolaryngological manifestations, including @PHENOTYPICFEATURE$ (SNHL).	has_symptom
+ac9269dd612ce1cf0f498c2fff1358bf73c83e76	An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, @PHENOTYPICFEATURE$, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound @DISEASE$ in liver and brain.	has_symptom
+44b69e4dc4c253fa820855bb2214a8c6a1a8e8f6	An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, @DISEASE$, myoclonus, convulsive @PHENOTYPICFEATURE$, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain.	false
+6f9ffb63eaaa00bef5b8e07b3c0ee85fcb49eeab	An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive @PHENOTYPICFEATURE$, and pyramidal tract signs showed a profound @DISEASE$ in liver and brain.	false
+5526017b4e37073379fd7a5d8d542aa7b6844d70	Neuraminidase was assayed in the frozen autopsy tissues from three patients with I-cell disease and an adult patient with cherry-red spots, myoclonus, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+b0ac3d6d25d62752bab542fdc2149b27d655bdc1	Sheep affected with ovine @DISEASE$ are normal at birth and develop clinical signs, initially @PHENOTYPICFEATURE$, commencing at approximately 5 months of age, which progresses rapidly to recumbency.	has_symptom
+022a7402a2388e91589d58857e394ecacd104789	Primary @DISEASE$ due to COQ6 mutations should be considered in children presenting with both SR-FSGS and @PHENOTYPICFEATURE$.	has_symptom
+6dbdaf0e3233c109fbe41cd3f6d800dc22836d54	@DISEASE$ is a form of large vessel granulomatous @PHENOTYPICFEATURE$ affecting often young or middle-aged women, especially of Asian descent.	has_symptom
+ca41a76f0e9af7ceb0f603c63d7881cc06afa238	@DISEASE$, a rare granulomatous @PHENOTYPICFEATURE$ affecting young people, is associated with considerable morbidity and premature mortality.	has_symptom
+a564d0064d0a67709c605a9372042229bcfd2d3a	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @PHENOTYPICFEATURE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and @DISEASE$.	has_symptom
+1c97a26c9c6438a97b42ee92685a7fa9b7443570	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, @DISEASE$, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+fedfa47b210df40b9520b4aa3a96bb8b0e2eca2e	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive @DISEASE$, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+8733135c1fc342bf63ea1057367729ecc39847a5	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, @DISEASE$, inflammatory bowel disease and Takayasu's arteritis.	false
+bcc5a323aa8d79e3ae70039f80d1357b3081c83a	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, inflammatory bowel disease and @DISEASE$.	false
+dd678b66e9a54d7318df2684caa633169ce5982a	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @DISEASE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+8e924cd36a80c26c5910eaa828d915691162f87f	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as @DISEASE$, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+bc9c49da79864010bc00d3df70247dff08fb4266	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, @DISEASE$ and Takayasu's arteritis.	false
+0775d81e15754ec00d00e89912da451c47e2faec	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, @DISEASE$ and Takayasu's arteritis.	false
+3311d5109ebd299eaf43dea2f6417afceffc6e9a	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and @DISEASE$.	false
+83ef0d55e21a0950fa722a27ac9bf550dfda0e12	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin @DISEASE$, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+8dd751ab50b6e70132f23aa55d69c273e3311eff	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, @PHENOTYPICFEATURE$, @DISEASE$, inflammatory bowel disease and Takayasu's arteritis.	false
+adb605ca39f496b992c448ba55d44501eae0180b	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, @DISEASE$, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+a075f9d4e90b31129185e2da93bc9b87e644f2e5	Newer agents such as mycophenolate mofetil, rituximab and tumour necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as systemic lupus erythematosus, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive @DISEASE$, sarcoidosis, @PHENOTYPICFEATURE$, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+cdce02f804b7a04b3b549d4da6b08ff4e96b6994	Newer agents such as mycophenolate mofetil, rituximab and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors are finding new indications in the therapy of conditions such as @DISEASE$, idiopathic thrombocytopenic purpura, skin vasculitis, cytoplasmic antineutrophil antibodies-positive vasculitis, sarcoidosis, ocular inflammation, nephritis, inflammatory bowel disease and Takayasu's arteritis.	false
+77746403f86e749be10fc8948366ebff5ec7b16c	@DISEASE$ is an infrequent form of @PHENOTYPICFEATURE$.	has_symptom
+39b8dbcd22bb4fc6406fa6f5c51268e8adee8d19	@DISEASE$ was diagnosed and supportive treatment for @PHENOTYPICFEATURE$ was instituted.	has_symptom
+632c6a3e654ffec371828957d99b2bcb363866ce	@DISEASE$ (PPCM) is a pregnancy-associated cause of @PHENOTYPICFEATURE$.	has_symptom
+60b8803bcfccca373bf7de0a6532e596906dded0	@DISEASE$ (PPCM) is a cause of pregnancy-associated @PHENOTYPICFEATURE$.	has_symptom
+30dff51df0e2eb7b876f3d8654c0c947c7513c51	@PHENOTYPICFEATURE$ in pregnancy: a case of @DISEASE$.	has_symptom
+1494073ad2c15f4f469b4b7eed260e41c6cc45c5	@DISEASE$ (PPCM) is characterized by @PHENOTYPICFEATURE$.	has_symptom
+8915c790a4555a8a2b9f84488f548f3ee739fd03	@DISEASE$ vs. sulprostone-associated @PHENOTYPICFEATURE$?	has_symptom
+3dbde38f326ea810616924af2d5034e5a289f500	@DISEASE$ (PPCM) is a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+3dbde38f326ea810616924af2d5034e5a289f500	@DISEASE$ (PPCM) is a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+0231066604f58f29b8bc288d3e5bfbf4979d9bcc	@DISEASE$ is an uncommon cause of @PHENOTYPICFEATURE$ but with serious prognosis.	has_symptom
+6f9ffb63eaaa00bef5b8e07b3c0ee85fcb49eeab	An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, cerebellar ataxia, myoclonus, convulsive @PHENOTYPICFEATURE$, and pyramidal tract signs showed a profound @DISEASE$ in liver and brain.	has_symptom
+ac9269dd612ce1cf0f498c2fff1358bf73c83e76	An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, @PHENOTYPICFEATURE$, myoclonus, convulsive seizures, and pyramidal tract signs showed a profound @DISEASE$ in liver and brain.	false
+c57d74ec214016c93719bc27c6c39ee0ab2edff5	An adult patient with macular cherry-red spots, a gargoyle-like physical appearance, @PHENOTYPICFEATURE$, myoclonus, convulsive @DISEASE$, and pyramidal tract signs showed a profound deficiency of beta-galactosidase in liver and brain.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5cefc7148abe67581842fffbc3f6fb990ab77555	Therefore, early diagnosis is mandatory and @DISEASE$ should be considered in every patient presenting with @PHENOTYPICFEATURE$, spastic-ataxic signs, juvenile cataracts and tendon xanthomas.	has_symptom
+7b1d29eb227634da19e510581308f051ea88d866	She showed @PHENOTYPICFEATURE$, bilateral pyramidal tract sings, slight cerebellar signs, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in cerebrotendinous xanthomatosis (@DISEASE$).	has_symptom
+ac9bd60725530362a4319bfa99d75bf28adbdb0d	She showed @PHENOTYPICFEATURE$, bilateral pyramidal tract sings, slight cerebellar signs, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in @DISEASE$ (CTX).	has_symptom
+b2b362b7ad3a4d11948e02ff5f92d1ad43e2429d	She showed intellectual impairment, bilateral pyramidal tract sings, slight @PHENOTYPICFEATURE$, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in cerebrotendinous xanthomatosis (@DISEASE$).	false
+028b0eb0f2f8e4af26618e4694a83117a8de021a	She showed @DISEASE$, bilateral pyramidal tract sings, slight @PHENOTYPICFEATURE$, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in cerebrotendinous xanthomatosis (CTX).	false
+84019aeff76f8e48fbf463c30b070e4400449da6	She showed intellectual impairment, bilateral pyramidal tract sings, slight @PHENOTYPICFEATURE$, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in @DISEASE$ (CTX).	false
+cb239a108dbb54e95894d8f8a37965dd9c5d4a37	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	has_symptom
+5a919bf4f5070993319e5072a0a21ff38b6f26f2	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	has_symptom
+5a5b8caf3240018c00d5fc08ec0380d1c0aa1457	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as @DISEASE$, cataract and tendon xanthomas).	false
+ef282edb393b69a59100db2b5c8aa79c51e45e11	Unusual @DISEASE$ represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+93a3428afa91c4483ce93980ca17a73552f8e9dd	Unusual @DISEASE$ represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+974cc13f9b56200fb0562d0a992ca8cd9f875f59	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as @DISEASE$, cataract and tendon xanthomas).	false
+04860a1bab63b6122c80335a4c922f680e162806	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+a736ae594aa1e0b345939ac71b804de0c368364a	Unusual @DISEASE$ represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+72ecb7fe81037a3cd04113382b38628eb3afd171	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @DISEASE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+428cfa131b13b0d0e0175d3dd46bb745ff4d3ebe	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially @DISEASE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+cbea19374763f052e1f9615023204ac6965a4eef	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+099f55a3dde9aa8d206611b7c32f4b1213ba151d	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+0ba6a2ac405c2c8b96e5f0660f6dad5159791f9f	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+a5de8514824d5bac356ae3f6ae7daa5051989669	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+9a8d3dc0114caa1ff1feb6ed7b6ae5ae00d85fa5	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+b48af21140f341bfdfd66bf225bb1547954c210d	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @DISEASE$, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+cc891b8c8f4aeb22f509a92652aca173f8362b7b	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as @DISEASE$, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+4683da8a5594335bbb5b041f2d270afe579732fa	Ocular anomalies, @PHENOTYPICFEATURE$, heart defects, kidney malformations, and diaphragmatic hernia may be part of the phenotypic spectrum of @DISEASE$.	has_symptom
+7be97dfc6bab272d8ce3f597cabdf6757fbb99ae	Ocular anomalies, corpus callosum agenesis, heart defects, @PHENOTYPICFEATURE$, and diaphragmatic hernia may be part of the phenotypic spectrum of @DISEASE$.	false
+46244e2f27b4d5c04d6646dedb6a855a28e48780	Ocular anomalies, corpus callosum agenesis, @PHENOTYPICFEATURE$, kidney malformations, and diaphragmatic hernia may be part of the phenotypic spectrum of @DISEASE$.	false
+5ddf28eaa51f4cde54313cd0e354693941566061	Ocular anomalies, @DISEASE$, @PHENOTYPICFEATURE$, kidney malformations, and diaphragmatic hernia may be part of the phenotypic spectrum of MMF embryopathy.	false
+a5a0894381d8218a6e94a78d70e75950b9a11a13	Ocular anomalies, @DISEASE$, heart defects, @PHENOTYPICFEATURE$, and diaphragmatic hernia may be part of the phenotypic spectrum of MMF embryopathy.	false
+1742e261f0cbd3fe3b1cfd6b0cf47b88b2fe24cf	The @DISEASE$ is a disorder with a high degree of clinical variability, generally associated with moderate to @PHENOTYPICFEATURE$.	has_symptom
+feb03f14103e6787c9e8fb6f6f8248648735ab54	@DISEASE$ (DLS) is a dysmorphogenic disorder typically associated with @PHENOTYPICFEATURE$.	has_symptom
+99efc582b0418d6bbdb2992584a322a9f652f9d4	@DISEASE$ is a severe genetic disorder characterized by malformations affecting multiple systems, with a common feature of @PHENOTYPICFEATURE$.	has_symptom
+9730eb22b935323799de8ffb5e7a739e444eb2bc	@DISEASE$ is a congenital disease characterized by @PHENOTYPICFEATURE$, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism, and a typical face.	has_symptom
+7e5cc05738fba2556c02e6e73b7f1cca250c5c0d	@DISEASE$ (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and @PHENOTYPICFEATURE$.	has_symptom
+806d98b0bf977f596e4a3c32a762a47ba5774520	@PHENOTYPICFEATURE$ is the most handicapping disability for individuals with @DISEASE$ (BDLS).	has_symptom
+e87dea96f729ca541659463b63a41a9fec065207	The results of the clinical and radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the @DISEASE$ (BDLS) and reject the existence of a "classic" type of patient and a "mild phenotype" without upper limb defects who survive with moderate to @PHENOTYPICFEATURE$.	has_symptom
+e38d2e6bddc93200ddaa41544559a8fab9ada02c	We conducted a functional analysis of breath-holding episodes in a 7-year-old girl with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+cbf4563b94986359a2a7132a7138aec11568e5bb	@DISEASE$ is a congenital disorder of uncertain cause characterized by @PHENOTYPICFEATURE$, small stature, microbrachycephaly, hirsutism, limb deformities, and characteristic facies.	has_symptom
+7ee5252182457e7ce4d8d35060db1220f9b9830d	@DISEASE$ is a congenital disorder of uncertain cause characterized by severe mental retardation, @PHENOTYPICFEATURE$, microbrachycephaly, hirsutism, limb deformities, and characteristic facies.	false
+9cba2005f4283ca1e048a7ae220c58563632d3be	Brachmann-de Lange syndrome is a congenital disorder of uncertain cause characterized by @DISEASE$, @PHENOTYPICFEATURE$, microbrachycephaly, hirsutism, limb deformities, and characteristic facies.	false
+5a0988ea5f2c8a48c66fd1bb00b1e9a2cfa3c9a5	Normal growth, despite @PHENOTYPICFEATURE$, in a child with @DISEASE$.	has_symptom
+d498a65f59b52c7cf3b876f03f746778b373e2d1	We suggest that the underlying mechanism responsible from the somatic overgrowth in @DISEASE$ may also be linked with the development of larger cysts and earlier onset of @PHENOTYPICFEATURE$ in ADPKD.	has_symptom
+f72e7a992f3770320958a5080f7b5c62e797d82c	We suggest that the underlying mechanism responsible from the somatic @PHENOTYPICFEATURE$ in @DISEASE$ may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD.	false
+c3b0dc0e4aec5f9d09075756385fc6230411cfd3	We suggest that the underlying mechanism responsible from the somatic @PHENOTYPICFEATURE$ in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of @DISEASE$ in ADPKD.	false
+eb9544f8c7ecfa62e8b53c750b980992d62cb921	(@DISEASE$15q syndrome or Dup15q) cause @PHENOTYPICFEATURE$, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features.	has_symptom
+f3f2694976d30b29ff41ebb75696654043a24225	@DISEASE$ manifesting as posterior cortical @PHENOTYPICFEATURE$.	has_symptom
+63b0b5ef695ba743472fdd1cd8d084c066554490	The study, which was a pilot for a larger study, highlights some of the complexities of providing care for people with an end-stage dementia and identifies the need for the development of education initiatives to increase knowledge and understanding of the end-of-life needs of people with @DISEASE$ and other @PHENOTYPICFEATURE$ syndromes, and their families.	has_symptom
+b247d980df2a159d9c830d93bf90b4977c3ab342	Patients were diagnosed with AD (n?=?148, 73.2%), mixed @PHENOTYPICFEATURE$ (n?=?38, 18.8%), @DISEASE$, vascular dementia (n?=?4, 2.0% for each), Lewy body dementia, and frontotemporal dementia (n?=?3, 1.5% for each).	has_symptom
+de401c572d694d13cf88314f0a18f68852768807	@PHENOTYPICFEATURE$ and myoclonic jerks develop in individuals with @DISEASE$ (CJD), an incurable brain disorder caused by alterations in prion protein structure.	has_symptom
+13c677e42b9cea2253254d9fd31ad604230c5d1c	@PHENOTYPICFEATURE$ and myoclonic jerks develop in individuals with Creutzfeldt-Jakob disease (@DISEASE$), an incurable brain disorder caused by alterations in prion protein structure.	has_symptom
+50e629e003ee3a9119c134fa316001e7a0600b1e	The search terms were alcohol-associated dementia, Alzheimer's disease, dementia, @DISEASE$, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, Huntington's disease, mixed @PHENOTYPICFEATURE$, neurodegenerative disorders, Parkinson's disease dementia, presenile dementia, traumatic brain injury, vascular dementia.	has_symptom
+c0b4fd8d6ac883078d3f00cbef39ae1cf03f6c05	The search terms were alcohol-associated dementia, Alzheimer's disease, dementia, @DISEASE$, dementia with lewy bodies, early onset @PHENOTYPICFEATURE$, frontotemporal lobar degeneration, Huntington's disease, mixed dementia, neurodegenerative disorders, Parkinson's disease dementia, presenile dementia, traumatic brain injury, vascular dementia.	has_symptom
+73e65b77058d9ec885786c701e81914641bcf672	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, myoclonic epilepsy, atypical @PHENOTYPICFEATURE$, Pick's disease, @DISEASE$ and Gerstmann-Str?ussler syndrome.	has_symptom
+c38bcb2d1549d15f88e19a0c72d4746b81b62668	At various times, family members have carried diagnoses of Alzheimer's disease, @DISEASE$, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+570adcee2a0e8e496118b9be15d8ba64d4ca2d03	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical @DISEASE$, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+21bca7965c15c519ee662c4abf6f27974d35a729	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, @DISEASE$ and Gerstmann-Str?ussler syndrome.	false
+75588597705f0d27d58136a78a100f14a5bba1f7	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler @DISEASE$.	false
+82afd3a3810c5c88d49e5345da3a46c7a729d0e3	At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Str?ussler syndrome.	false
+dd39ad91f171f6c732846570ae4b02c368de9e4e	Whereas patients with five, six, seven, eight, and nine extra octapeptide repeats show an autosomal dominant pattern of inheritance and features of CJD, Gerstmann-Str?ussler-Scheinker disease, or atypical @PHENOTYPICFEATURE$, patients with one, two, or four extra repeats have typical @DISEASE$ and lack a family history of neurologic disorder.	has_symptom
+7d7c5b383e6d76656259b8e3fbf98a612491da92	Whereas patients with five, six, seven, eight, and nine extra octapeptide repeats show an autosomal dominant pattern of inheritance and features of @DISEASE$, Gerstmann-Str?ussler-Scheinker disease, or atypical @PHENOTYPICFEATURE$, patients with one, two, or four extra repeats have typical CJD and lack a family history of neurologic disorder.	has_symptom
+22cd1352fed38471d3f5208772b7a05c9d73d914	Numerous other neurodegenerative illnesses have an associated dementia, including corticobasal degeneration, @DISEASE$, Huntington's disease, progressive supranuclear palsy, multiple system atrophy, Parkinson's disease @PHENOTYPICFEATURE$, and amyotrophic lateral sclerosis.	has_symptom
+0e70323e7fd06989305f52e552e5ab0eabbb301e	Loci underlying autosomal dominant forms of most neurodegenerative disease have been identified: prion mutations cause Gerstmann Straussler syndrome and hereditary @DISEASE$, tau mutations cause autosomal dominant frontal temporal @PHENOTYPICFEATURE$ and alpha-synuclein mutations cause autosomal dominant Parkinson's disease.	has_symptom
+257e960e924e218a4788895e7c2af661222bea19	Five patients underwent amyloid PET: two with AD, one with mixed @PHENOTYPICFEATURE$, one with FTD, and one with @DISEASE$.	has_symptom
+8ca53c663f7d1229837b19bcb6b8a7930ab0c651	Mutations in the human SIP1 gene have been implicated in @DISEASE$ (MWS), characterized by @PHENOTYPICFEATURE$ and agenesis of the corpus callosum.	has_symptom
+a8c52be08fdd066e8cc004a47df03838f0bc2f20	Mutations in the human SIP1 gene have been implicated in Mowat-Wilson syndrome (MWS), characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d9d368b01042f1aeab499bd4dc01192e4e1bc2e8	Mutations in the human SIP1 gene have been implicated in @DISEASE$ (MWS), characterized by severe mental retardation and @PHENOTYPICFEATURE$.	false
+1a83b479a4cdfbc72bca5b891ea24c6379abbed2	@DISEASE$ (MWS) is characterised by @PHENOTYPICFEATURE$ and multiple congenital anomalies.	has_symptom
+cfb43f03636f27b88119ec3fe3bc84b3ecdcfc4a	@DISEASE$ (MWS) is characterized by @PHENOTYPICFEATURE$ with seizures, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	has_symptom
+72aba56d48f4ec66d808ec026e891418a3d2bc55	Mowat-Wilson syndrome (MWS) is characterized by @DISEASE$ with seizures, specific @PHENOTYPICFEATURE$, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+716a9f55f04c6441e99941bc0599d3d48b68117a	Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with @PHENOTYPICFEATURE$, specific facial dysmorphism, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+8fb37169ea6b39a169908880f761848577034c89	@DISEASE$ (MWS) is characterized by severe mental retardation with seizures, specific @PHENOTYPICFEATURE$, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+b6dcc605b4be96e02005a35c45c7573bdd466f81	Mowat-Wilson syndrome (MWS) is characterized by @DISEASE$ with @PHENOTYPICFEATURE$, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+e7a5190d40a2875173dc2fbeb454a5554ed734ad	Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific @PHENOTYPICFEATURE$, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+b0252ad48b5f2e24dc7dff334d73f26bb5feae16	@DISEASE$ (MWS) is characterized by severe mental retardation with @PHENOTYPICFEATURE$, specific facial dysmorphism, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+05f2ac5c962c00a299932deb5236090f59884e57	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	has_symptom
+4ec39c5325f7b3354ddfea9e8d3d378300237d8d	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+2e01a826dd43d384fa36d071c7f0da2ac20dd0ae	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+6f4606a2893f920b67140e3177b2c4a484d161f3	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@DISEASE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+6f3978e08904e5c7cc464b8ec9ba72569903b708	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+221f2ea5c7f9eb3e064a0ce44c4461c44ccb483c	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@DISEASE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+2e06bba1d394f237851874da1ad2eef296af5cef	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@DISEASE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+60e686793f66d8e78203df3bb8710fc524d33f60	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+4904d43aaf0bdd8dd5d66b2a7ab5439d209542c2	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+8a2e56e6fe6545baef89fdeb438c9813b9ad6d4c	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+3563e8f7dc966ef1ce79f447f5335c9c66092ec5	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+9032d4cfcdd25b8472c82055b559d4e15492985f	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+97a9429c38eb2ac23fe895c7b32731e91ab99e0e	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+239a1518f44e22b3837c1377575a89bed2f18498	ACC is found in 40% of the cases of @DISEASE$ (MWS), a polytopic embryonic defect including a distinctive facial gestalt, @PHENOTYPICFEATURE$, epilepsy and postnatal microcephaly as constant features.	has_symptom
+5e925c8f11b7a0351e1cd62d5f54046c8bbe4c5f	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	has_symptom
+4089c3878c89912dbe85cc6e01e08cab07f9306a	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+7369f0e56f88a2ee21324a7b09d549ee4feffd0d	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@DISEASE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+0c915ba6a21d1d71056c1da5d42d9f535efbe699	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+cd919347c5f063ad849dfe2e4452b67eb2873cb8	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+5bbd8a59072b11d5d675ffbdcfbb72b9ca773ad3	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a5a61712b98851fd4a823efd78ec016b9887bcdd	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+4756d86a142e9aa8d861aa94b3debaa1d3c4ec4f	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@DISEASE$, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+4a371e302880e82102954e9f044308de7d4fd93d	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+2fd11bca605828e0bf07a7ff6ad88ce153503b62	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+12d0add315d4502d185979fd06ca8a5b44569282	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@DISEASE$, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+3b3327dee41b1c89db65f6cbe8bd91acbfc14813	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+3f4685cd9e6e083b56b1ab803c0f1011b329f237	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+ce5c5313c698bcf5fe2f37d14848ca955e6bcadb	@DISEASE$ is a recently delineated @PHENOTYPICFEATURE$, multiple congenital anomalies syndrome caused by dominant nonsense or frameshift mutations, deletions or translocations of the zinc finger homeobox 1B gene (ZFHX1B).	has_symptom
+52aef75ae64782ec436b10f7fcfd4561eaddec7d	Clinical symptoms of @DISEASE$ are characterized by muscle cramp, slow relaxation following muscle contraction (pseudomyotonia), and @PHENOTYPICFEATURE$; these symptoms are due to hyperexcitability of the peripheral nerve, including autonomic nerve.	has_symptom
+dcb226ac0464f840b06b2a998c3b325815cc9c91	Clinical symptoms of @DISEASE$ are characterized by muscle cramp, slow relaxation following muscle contraction, and @PHENOTYPICFEATURE$.	has_symptom
+539be3c2f3458788bae4b50ce48848e42bfdd126	Deafness, @PHENOTYPICFEATURE$ and a middle ear mass in a patient with @DISEASE$.	has_symptom
+fd5aea9967cc10f749f1e71a698f0c92a6b647a0	@PHENOTYPICFEATURE$, dysphagia and a middle ear mass in a patient with @DISEASE$.	false
+089b6d7838892fb7764df613f27e73715b69b64a	@PHENOTYPICFEATURE$, @DISEASE$ and a middle ear mass in a patient with neurofibromatosis type 2.	false
+165b286df69ffeb1d71e338bd62275275f7ea83f	Amyotrophic lateral sclerosis (@DISEASE$) is a fatal neurological disease with @PHENOTYPICFEATURE$.	has_symptom
+fad57141c6502050b11c295caf445b0f2b30f7b6	@DISEASE$ (ALS) is a fatal neurological disease with @PHENOTYPICFEATURE$.	has_symptom
+378dbde80bf431c37f8629c00ceee6513650d938	Noncontiguous spread of lower @PHENOTYPICFEATURE$ is present in @DISEASE$.	has_symptom
+2b5cbc62057cacbbd785bcf0c375dacfa0573b3a	Amyotrophic lateral sclerosis (@DISEASE$) is a fatal disease characterised by combined upper and lower @PHENOTYPICFEATURE$.	has_symptom
+0722bdc82c1db13a5b75b21a70a8fc8d8c63c0f5	@DISEASE$ (ALS) is a fatal disease characterised by combined upper and lower @PHENOTYPICFEATURE$.	has_symptom
+6cc110bece10a55fb280330d5dbb7596c5ffb8ac	@DISEASE$ (ALS) is the most common and most aggressive form of adult onset @PHENOTYPICFEATURE$.	has_symptom
+78549624d439390f0827bf4f656963f0eefb7cd0	Amyotrophic lateral sclerosis (@DISEASE$) is the most common and most aggressive form of adult onset @PHENOTYPICFEATURE$.	has_symptom
+a02ff0ecca0c484050148629ecf779e2f760d193	In amyotrophic lateral sclerosis (@DISEASE$), @PHENOTYPICFEATURE$ is associated with systemic metabolic impairment.	has_symptom
+dae7f29ce87c9b0afe676f8484e1bbe8736873e2	In @DISEASE$ (ALS), @PHENOTYPICFEATURE$ is associated with systemic metabolic impairment.	has_symptom
+6e2dca249b7e4d97d044cd11b18c6d3a13505337	Amyotrophic lateral sclerosis (@DISEASE$) is a neurodegenerative disease characterised by @PHENOTYPICFEATURE$.	has_symptom
+ac71b99d70e71c3ffd3f6fbec1036804d0b1b51f	@DISEASE$ (ALS) is a neurodegenerative disease characterised by @PHENOTYPICFEATURE$.	has_symptom
+9d0d893c6f4992ed752cbb2ec215144e465f7b81	Selective @PHENOTYPICFEATURE$ is a hallmark of @DISEASE$ (ALS).	has_symptom
+a1df0c2b06881fc4c9172b8d606644ac6fbec10c	Selective @PHENOTYPICFEATURE$ is a hallmark of amyotrophic lateral sclerosis (@DISEASE$).	has_symptom
+2e83f261a6c41debbdb06bd0c737cb9031c0b2b2	@DISEASE$ (ALS) is characterized by progressive upper and lower @PHENOTYPICFEATURE$.	has_symptom
+66b0b11ceb86ade8426cb652025c642e6be93ddf	Amyotrophic lateral sclerosis (@DISEASE$) is characterized by progressive upper and lower @PHENOTYPICFEATURE$.	has_symptom
+03681ebbaa456489e09063262f2cb60ae1905e2b	Amyotrophic lateral sclerosis (@DISEASE$) causes progressive @PHENOTYPICFEATURE$, paralysis and death by ventilatory failure.	has_symptom
+455d394dc441893e2f3f2de6f1c4f118d9737994	@DISEASE$ (ALS) causes progressive @PHENOTYPICFEATURE$, paralysis and death by ventilatory failure.	has_symptom
+406e4a69d7b3c8f40a6ef2c97180487e395b95fa	Interplay of upper and lower @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2a53d92fd1b9c575c5a9993ca81ab84de0b348ed	@DISEASE$ (ADLD) with autonomic symptoms features micturition urgency, constipation, erectile dysfunction, and orthostatic hypotension, usually followed by pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+d1c7528007794827cc71eac267a9b714e2a7011f	Adult-onset autosomal dominant leukodystrophy (@DISEASE$) with autonomic symptoms features micturition urgency, constipation, erectile dysfunction, and orthostatic hypotension, usually followed by pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+e29cc14c49f827599cf6ba5766198499fa614ff4	Duplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (@DISEASE$) starting with autonomic symptoms, which are followed by pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+6137cf7fc4ae5ac750c662fa6f4762ef5792f6d0	Duplication of the LMNB1 gene encoding lamin B1 causes @DISEASE$ (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+05eda734e81ce0b5a6561e2e7ef3f515aa03b355	We describe a 13-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$, seizures, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder.	has_symptom
+53bb284756b61bf26e593c7578cced64efbe04ed	We describe a 13-year-old boy with 49,XXXXY syndrome, @DISEASE$, @PHENOTYPICFEATURE$, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder.	false
+357c7281bf8d4e81347560dd7080ec8ec7a7f7a8	We describe a 13-year-old boy with @DISEASE$, language impairment, @PHENOTYPICFEATURE$, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder.	false
+835d4c913de50f42a5ac19e0011abb39f81d1dae	The affected individuals exhibited variability with respect to the cleft lip, @PHENOTYPICFEATURE$, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in @DISEASE$.	has_symptom
+3d56135030ecfa01843b4faafea442da37de5b27	A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and @PHENOTYPICFEATURE$ has been termed @DISEASE$ (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.	has_symptom
+4a305ae422641ec5724272c9ff7c9e6be2f50581	A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, @PHENOTYPICFEATURE$, and short stature has been termed @DISEASE$ (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.	false
+61b87ce4569c6f08dc7f7766e7af204fe9d8fedd	A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, @PHENOTYPICFEATURE$, and @DISEASE$ has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.	false
+189087d2c33ac0284f26ec880d19fe9827c1d5d1	A variant with the additional features of severe atrophy of the @DISEASE$ hand muscles, dysarthria, @PHENOTYPICFEATURE$, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.	false
+369a8074a874144aeb4084fb18f0b18fead1eef3	Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive @DISEASE$ (SPG20), which has additional features of @PHENOTYPICFEATURE$, cognitive deficits and distal amyotrophy.	has_symptom
+61f925a15590db6b097a3baeba897b0679b2fba2	Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of @DISEASE$, @PHENOTYPICFEATURE$ and distal amyotrophy.	false
+e28fd55419569d8a957d591b81a343d743c41a26	Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive @DISEASE$ (SPG20), which has additional features of short stature, @PHENOTYPICFEATURE$ and distal amyotrophy.	false
+5f639c65d82f6fd89bf27a5c5ced6cd16338d0b1	NTE-MND resembles @DISEASE$, except that @PHENOTYPICFEATURE$, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.	has_symptom
+d4e370ef9730745d5b83109da7d21254b4a2ef49	NTE-MND resembles Troyer syndrome, except that @PHENOTYPICFEATURE$, cognitive impairment, and dysmorphic features, which often accompany @DISEASE$, are not features of NTE-MND.	has_symptom
+c06246f40d79a79ace1e2b961d70eece31ccfbc1	NTE-MND resembles @DISEASE$, except that short stature, @PHENOTYPICFEATURE$, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.	false
+cdfaa808784f937e67339f009cb777b9ac0ebc20	NTE-MND resembles Troyer syndrome, except that @DISEASE$, @PHENOTYPICFEATURE$, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.	false
+b26312ae665fde76d878e485f5960ba44e1f6f24	NTE-MND resembles Troyer syndrome, except that short stature, @PHENOTYPICFEATURE$, and dysmorphic features, which often accompany @DISEASE$, are not features of NTE-MND.	false
+c0c29163b63d72cc94faff7a464f5b1da2330be5	In @DISEASE$, an autosomal recessive form of hereditary spastic paraplegia, patients have dysarthria, distal amyotrophy, developmental delay and @PHENOTYPICFEATURE$ in addition to spastic paraparesis.	has_symptom
+13e3808e08f82310fd4a968482d90c7c0d9a0db5	@DISEASE$ had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, @PHENOTYPICFEATURE$, dysarthria and developmental delay-core features of Troyer syndrome-and a novel mutation in the SPG20 gene, which is also mutated in the Amish.	has_symptom
+bf6a9b84206632b6fe58019e4fc67de766bf11ee	Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, @PHENOTYPICFEATURE$, dysarthria and developmental delay-core features of @DISEASE$-and a novel mutation in the SPG20 gene, which is also mutated in the Amish.	has_symptom
+7c207d0d763bc85a93374c7be6b20dfe6def65d3	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @PHENOTYPICFEATURE$ (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	has_symptom
+ba7cdfb9ac9278ee23ca706dfd3c25e4125c334d	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile @PHENOTYPICFEATURE$ epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+be6f70402eb80546e5bb818f1acf165108598ce0	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @DISEASE$ (7%), @PHENOTYPICFEATURE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+a9f82610aca49f7f67ee4be7b15cd7f7ccfb66fe	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @DISEASE$ (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile @PHENOTYPICFEATURE$ epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+d9497bea52f14840b84a896fb5a918ebe07ae076	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified @PHENOTYPICFEATURE$ (12%).	false
+3770576f68735b14df7c4e069f9f1952b7761757	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @DISEASE$ (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type @PHENOTYPICFEATURE$ (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+b23032d2eb081dfaf503cdb33b0e1368fdee4ac4	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), @DISEASE$ (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), Landau-Kleffner syndrome, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified @PHENOTYPICFEATURE$ (12%).	false
+8e9ca3bae5bca3e9187f96f2a86145219e7b600b	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), @PHENOTYPICFEATURE$ (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+d6eb68856adfef81a85a546ec9709a071e17e808	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type @PHENOTYPICFEATURE$ (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile myoclonic epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+b104ffe739dcd0c2274c6c01411e9c4d90d8c68e	Co-occurrence of primordial dwarfism and @PHENOTYPICFEATURE$ together with particular skeletal findings are seen in a wide range of Mendelian syndromes including @DISEASE$ (MMS, OMIM 251230), microcephaly, short stature, and limb abnormalities (MISSLA, OMIM 617604), and microcephalic primordial dwarfisms (MPDs).	has_symptom
+4db760f975fdadf56d64171cf4103276a2941fb6	Systemic @DISEASE$ is a potentially lethal, autosomal recessive disorder characterized by cardiomyopathy, myopathy, recurrent episodes of hypoketotic hypoglycemia, hyperammonemia, and @PHENOTYPICFEATURE$.	has_symptom
+ebc2f9c33a1a3fa86e6e307698f5028a83fd6b3f	Type 2 @DISEASE$ is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatsch?del deformity), prominent @PHENOTYPICFEATURE$, thumb and first toe abnormalities, variable syndactyly, and mutated genes for type 1 or 2 fibroblast growth factor receptor.	has_symptom
+91259d4090d1639b4d49f0d581fab12e1d0b9ff5	Type 2 Pfeiffer syndrome is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatsch?del deformity), prominent @DISEASE$, thumb and first toe abnormalities, variable @PHENOTYPICFEATURE$, and mutated genes for type 1 or 2 fibroblast growth factor receptor.	false
+31e54dbed40a6267f2a1c6d83b363af7cf5e0108	Type 2 @DISEASE$ is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatsch?del deformity), prominent ptosis, thumb and first toe abnormalities, variable @PHENOTYPICFEATURE$, and mutated genes for type 1 or 2 fibroblast growth factor receptor.	false
+11f23b664c2c45a9f85e336ae22331e5769ef8da	Our patient had a broad forehead, arched eyebrows, left-sided squint, @PHENOTYPICFEATURE$, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of @DISEASE$.	has_symptom
+dc55820e68d28ae2ff32074030bce661ccc6c0a5	Our patient had a broad forehead, arched eyebrows, left-sided squint, @DISEASE$, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and @PHENOTYPICFEATURE$ with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome.	false
+c0adc12ec43fbc9403395d1053088e0bdddbf6c2	Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and @PHENOTYPICFEATURE$ with molar tooth sign consistent with the diagnosis of @DISEASE$.	false
+a9da44fbe35cfe90993d04d1067ecff761f4ecb8	Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline @DISEASE$ lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and @PHENOTYPICFEATURE$ with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome.	false
+a50b16880c5b868f8de7acde904e95dacfc6c2b3	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and @DISEASE$ with postaxial malformations plus mandibulofacial dysostosis.	has_symptom
+98b78ca485ede65be4a95ec5acc3fd6db613b9fa	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus @DISEASE$ (severe micrognathia and @PHENOTYPICFEATURE$) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+74a3d04d8d161f8644070e9d27465a5ee3d903d8	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @DISEASE$ and @PHENOTYPICFEATURE$) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+fa71d3edea0d84dad9d75891599be376d0849769	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and @PHENOTYPICFEATURE$) and @DISEASE$ with postaxial malformations plus mandibulofacial dysostosis.	false
+ee7916820778ad6cd55c06920be37b6218b3d532	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and @PHENOTYPICFEATURE$) and Miller syndrome with postaxial malformations plus @DISEASE$.	false
+38594c9aa1a7d55ac0ac6b24644da95e81860cf5	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager @DISEASE$ with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and @PHENOTYPICFEATURE$) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+c621d6cfc91b7f0f1081f7de02c95b6467751b44	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	has_symptom
+4d4336247bb144b01da6df0f96f61f7ae581a2b5	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by @PHENOTYPICFEATURE$, @DISEASE$, and visual impairment).	false
+f9590441d452ecb5c10069137cb0098d3e68556f	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+2277843541885cad1fe58a4b30737275d088c3f9	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, vestibular dysfunction, and visual impairment).	false
+f9cc43e2bcf487f56c0a944f72c4262e9af48acd	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, @DISEASE$, and visual impairment).	false
+a5c66271b0a1919627509fb4e00fd4275969561c	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+ede2c41a8a4d8cda37876266e9a6951fc3a3a090	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+4fdf41f2cee99b5cbc96148e83d7c7f54fdbce10	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and visual impairment).	false
+42b18daabee751a2e8a59b64e68e42fcc2792a57	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment).	false
+d9c47eada0108ae019bce006be21a8f3627a38af	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment).	false
+c4e6babb9479a0c03288700217fe95bf6783031c	Children with a CDH23 pathogenic variants are at significantly increased risk of having SCD and this may be a contributing factor to the @PHENOTYPICFEATURE$ in @DISEASE$ patient population.	has_symptom
+0249d04b6f0d58d49b4bbf24b92ee6a71b8544cc	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for @DISEASE$, which is characterized by congenital deafness, @PHENOTYPICFEATURE$, and prepubertal onset of progressive retinitis pigmentosa.	has_symptom
+79b26a9a0a89f1822d2e2f301767c47021376105	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and prepubertal onset of progressive retinitis pigmentosa.	false
+d78999462083472645e6e8b90d33c4885e47285d	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and prepubertal onset of progressive @DISEASE$.	false
+215e4fa78f0f951058128995260db2fd529220bc	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and prepubertal onset of progressive retinitis pigmentosa.	false
+5024dd4122680cb8ecff2623d785b71d83d5bba2	Extreme @PHENOTYPICFEATURE$ is a cardinal feature of @DISEASE$ (OI), types III and IV.	has_symptom
+876fb4338389fb37061e82d917f9c602c6ab8040	Children with @DISEASE$ and @PHENOTYPICFEATURE$ present on average with normal IGF-I and IGFBP-3 levels.	has_symptom
+48a4e88d3c820997ebf5e0fcdc0b5d1937bbbd5e	Genome arrays for the detection of copy number variations in idiopathic @PHENOTYPICFEATURE$, idiopathic @DISEASE$ and neuropsychiatric disorders: lessons for diagnostic workflow and research.	has_symptom
+ba51b0e60c9b278c872349e2ee68e6a9c2c74124	Many encoded gene products responsible for neurodevelopmental disorders (NDs) like autism spectrum disorders (ASD), schizophrenia (SCZ), @PHENOTYPICFEATURE$ (ID), and idiopathic @DISEASE$ (IGE) converge on networks controlling synaptic function.	has_symptom
+d0b5cb8cc3d8d949a2c18ccb9d025b61e564f417	deletion syndrome is associated with several neuropsychiatric disorders, including idiopathic @DISEASE$, @PHENOTYPICFEATURE$, autism spectrum disorders (ASDs) and schizophrenia.	has_symptom
+5cfadcc43dc31b15db01fa7cc7985a9da18a4928	Fourteen of 23 female members of a church group experienced an acute self-limited illness characterized by chills, @PHENOTYPICFEATURE$, chest pain, cough, and nausea, consistent with the diagnosis of @DISEASE$.	has_symptom
+f60888956cdc49bcd1daef522a9ff1d863d2489c	The proposed definition of @DISEASE$ associated the following criteria: occurrence of at least one symptom among headache, myalgia, @PHENOTYPICFEATURE$ and shivers, possibly associated with other 'minor' symptoms, within three days after a shower contaminated by Legionella, during a maximum of 8 days (minimum 2 days).	has_symptom
+8681da4d46450cea803e4a7b1f883240e7ea0041	To overcome this challenge, nine patients with symptoms that resemble those of @DISEASE$, including neurodegeneration, @PHENOTYPICFEATURE$, telangiectasia, and/or elevated serum ?-fetoprotein, were subjected to whole-exome sequencing (WES) to identify the causative mutations.	has_symptom
+04b3744ab303423bdbc1f1892b0968e6a55a62b7	Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had @PHENOTYPICFEATURE$, 2 had @DISEASE$, and one each had DiGeorge syndrome, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect.	has_symptom
+b25d4c802b8ba4cd9fca3ab242da9ba411988f0c	Patients with common variable hypogammaglobulinemia, thymoma and @PHENOTYPICFEATURE$, @DISEASE$, and selective IgA deficiency had significantly decreased mean serum IgE concentrations.	has_symptom
+fe6fa946d3890ca5d638d11811797a431e190f3f	Patients with common variable @PHENOTYPICFEATURE$, thymoma and hypogammaglobulinemia, @DISEASE$, and selective IgA deficiency had significantly decreased mean serum IgE concentrations.	has_symptom
+aa26c6fab26e2e4a14e76bc6bf3e1bf0884027fa	A nonsense mutation in the gene was shown to be involved in a rare X-linked behavioural syndrome, which includes impaired impulse control, aggression and borderline @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+242a810f28385aca7c8a1b8128e0e6b4cf925b65	This may be the first autopsy report of @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, brain malformations, optic atrophy, and hypogenitalism, although the case lacked agenesis of the corpus callosum.	has_symptom
+33f4af1b375973194cc4f052b5df6053ef9f1d32	This may be the first autopsy report of Micro syndrome, which is characterized by @DISEASE$, brain malformations, @PHENOTYPICFEATURE$, and hypogenitalism, although the case lacked agenesis of the corpus callosum.	false
+b10dabc48f7daacdf7bf65cdb706e4f69c5000a2	This may be the first autopsy report of @DISEASE$, which is characterized by microcephaly, brain malformations, @PHENOTYPICFEATURE$, and hypogenitalism, although the case lacked agenesis of the corpus callosum.	false
+e430c965430ba164b7fa8f7ecbd92017b14ec944	Only one patient had @PHENOTYPICFEATURE$ at birth, highlighting the fact that congenital microcephaly is not a consistent feature of @DISEASE$.	has_symptom
+479fe3dde76c17c0d9088d8f0709d648d4651b1b	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes @DISEASE$ in a girl from a consanguineous Turkish family presenting with congenital cataracts, microphthalmia, absent visually evoked potentials, @PHENOTYPICFEATURE$, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	has_symptom
+97dcc29f3e3c3e05d034b842d9bf78c4a295f833	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital cataracts, @PHENOTYPICFEATURE$, absent visually evoked potentials, @DISEASE$, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	false
+fdde9e0bab64cc870ab5cc5e15ec7c7be6148a0f	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital @DISEASE$, @PHENOTYPICFEATURE$, absent visually evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	false
+ef2a0aece89809c2a579d8441465453bdad4bed2	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes @DISEASE$ in a girl from a consanguineous Turkish family presenting with congenital cataracts, @PHENOTYPICFEATURE$, absent visually evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	false
+0de8e31494f2a2f471de6d9021eb556068cb73b8	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	has_symptom
+c1509c46242880d26e69f3864334910d9e8a578c	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+2d6af3173a44bfc54e466ee63064fba2c6da5b86	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+1c43e577fb847530ffa23e0d868fc499e597ddc0	Micro syndrome is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+bd722e4391fafdf64d7b6b540805f07ff8e25ed4	Micro syndrome is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, @DISEASE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+91eebc8d6dd4e7daf5d72bf89be8aa2b30c3bf8c	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @DISEASE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+75f96ffc549f005410c9b5ba7e16c4c8206714df	@DISEASE$ is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+825a9ae97949212d72819e43e7d056c6fb04c720	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+16610b10184de422c5ec5d714c9edd94a9818465	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital @DISEASE$, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+fbfd2d378bfc6f18d595a950ef285ea94ac36d01	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @DISEASE$, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+67b0658a7effaffef78d46fde5273b6022d68cef	@DISEASE$ (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, severely delayed motor and intellectual development, microcornea, congenital cataracts, optic atrophy, and hypogonadism.	has_symptom
+ae5334445fb8314e53e7f631a5bc96233281912e	Warburg Micro syndrome (WARBM) is a rare @DISEASE$ characterized by postnatal growth retardation, microcephaly, severely delayed motor and intellectual development, microcornea, congenital cataracts, @PHENOTYPICFEATURE$, and hypogonadism.	false
+1ff2098f74f98ca1aa6c998852aba7fe095c6f37	Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, @DISEASE$, severely delayed motor and intellectual development, microcornea, congenital cataracts, @PHENOTYPICFEATURE$, and hypogonadism.	false
+0ecbdb138bbe8a2d9db177fa44742314c75113d5	Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, microcephaly, severely delayed motor and intellectual development, microcornea, congenital @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+ba240724b61fcd031e890f3c37c7ee21fcc08e6f	@DISEASE$ (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, microcephaly, severely delayed motor and intellectual development, microcornea, congenital cataracts, @PHENOTYPICFEATURE$, and hypogonadism.	false
+34bcadbab2bda6b385ab1bcd0d36d39011173be7	Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, microcephaly, severely delayed motor and intellectual development, microcornea, congenital cataracts, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+abce692f9fc271aa369308050e9cb671810c8d31	The child born from the second pregnancy showed features typical of @DISEASE$, with the exception of @PHENOTYPICFEATURE$, at age 31 months.	has_symptom
+06d73ea18533316cbc81a7c25a55a5bc61281513	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	has_symptom
+0178ed2a6db3b6288fb4749d856c0787807dd9ca	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @DISEASE$, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+baa5ded6bf31b1bc9806380abba468c44095eed0	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital @DISEASE$, optic atrophy and central nervous system malformations.	false
+8d3cc04177890a8590e66b629371e83412180ab8	Warburg-Micro syndrome (WARBM) is an autosomal recessive @DISEASE$ characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+d926af9f0da8bce956553f7e75047ef98fb898bf	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and @DISEASE$.	false
+dab9ed8007263aca51c2c1ec311d7806c92a426a	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+95fe5b5e9c3a1635aa84e7c8fd532ee24a4078df	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+9c442c423a6bdd8cc0bfbcb6a0d5629abea4f8c8	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+82da890baf4cef482bed332293122a8df7107f3e	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital @DISEASE$, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+6316cd6bc3d6b77c117e70f21d1b922568eb56f2	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3aca0cedec8ec04b20a8b8efede7efec90b1bf9f	Warburg-Micro syndrome (WARBM) is an autosomal recessive @DISEASE$ characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+2b17e2d11e44de3497e2f6eb1c304d3444e0fdeb	@DISEASE$ is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: @PHENOTYPICFEATURE$ and psychomotor retardation.	has_symptom
+f89b28611140e668f91e0d765d958ba71ee1477d	Micro syndrome is a rare condition in which congenital cataracts, @PHENOTYPICFEATURE$, and facial dysmorphism are associated with severe @DISEASE$, namely: microcephaly and psychomotor retardation.	false
+0d221eb6feb2d17307c2f19e573b9e9ecbfe75d8	Micro syndrome is a rare condition in which congenital @DISEASE$, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+1e0cb6ed5c7e6cf23b52407be363c1769f0b4042	Micro syndrome is a rare condition in which congenital cataracts, @PHENOTYPICFEATURE$, and facial dysmorphism are associated with severe neurological disorders, namely: @DISEASE$ and psychomotor retardation.	false
+bc45c708cc3fc71ee672cc854712dde1257b31c5	@DISEASE$ is a rare condition in which congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+daecc064900cb840437f98fc89b1a36e5643ff4f	Micro syndrome is a rare condition in which congenital @DISEASE$, @PHENOTYPICFEATURE$, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+f69fea7ced264bc9e9e980ac7958b67aa72b2faf	@DISEASE$ is a rare condition in which congenital cataracts, @PHENOTYPICFEATURE$, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+4b67cdf657580efaa4e94ac47092a3d9f7f82160	Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: @DISEASE$ and psychomotor retardation.	false
+bd0d0090d58f8f7883a4a2002a28b7435589c119	Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe @DISEASE$, namely: microcephaly and psychomotor retardation.	false
+04b052a5fa8c21071d2a740f49fa013bcfdc4e32	@DISEASE$ (WARBM) is a genetic heterogeneous disease characterized by @PHENOTYPICFEATURE$, intellectual disability, brain, ocular, and endocrine anomalies.	has_symptom
+8299f61fc1079e50a92e377be22e233d0f86afc8	@DISEASE$ (WARBM) is a genetic heterogeneous disease characterized by microcephaly, @PHENOTYPICFEATURE$, brain, ocular, and endocrine anomalies.	false
+d78d6fd3be43ec948fe16570c7308fd2a1796810	Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by @DISEASE$, @PHENOTYPICFEATURE$, brain, ocular, and endocrine anomalies.	false
+30b9dca391773bff5d091c5dfd97405d491f4c4c	The characteristics of @DISEASE$ are mental retardation, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	has_symptom
+82b8398b686ce781b0b19165f854c05a3f45a99d	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+d7a203ef530a704527b171528d73d35c53eb67f2	The characteristics of Micro syndrome are mental retardation, @DISEASE$, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+c71da9e69642b6e17d5c4b7dd5b0bb624fe254e6	The characteristics of Micro syndrome are @PHENOTYPICFEATURE$, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+dbc5cc36946ecdb3c21b258e39cc451934837e07	The characteristics of Micro syndrome are @PHENOTYPICFEATURE$, @DISEASE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+04daf3e06e4485be2739e802f8b593da3a4e4faa	The characteristics of Micro syndrome are mental retardation, @DISEASE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+430b26da5e09398b5a950295c3308223a63cb6fb	The characteristics of @DISEASE$ are @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+47853bb66d8dd0e9929e95f74b34629195e3ab34	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+c4606547de20a0ad2b5ef246a5f2719ede3ea581	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+105f7182cb86fe46c5a88d05cb3e884be30cd360	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital @DISEASE$, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+0abb3db893fe4946a6705f00581c282857d8a026	@DISEASE$ (CBS) is an atypical parkinsonian syndrome of great interest to @PHENOTYPICFEATURE$ specialists and behavioral neurologists.	has_symptom
+78ff8321f898e41b2d70d9e27a357dbe92491573	Some patients have an associated @PHENOTYPICFEATURE$, either parkinsonism, as in progressive supranuclear palsy and @DISEASE$, or motor neuron disease (FTD-MND).	has_symptom
+affe2d3415f94e527695bbe12e2f26c03b747cc4	Although commonly known as @PHENOTYPICFEATURE$, progressive supranuclear palsy (PSP) and @DISEASE$ (CBS) may present with changes in speech and language alongside or even before motor symptoms.	has_symptom
+59e77e9ff5f96f1fe000d5bd5f65041279a04fde	@DISEASE$, progressive supranuclear palsy and frontotemporal dementia are all part of a disease spectrum that includes common cognitive impairment and @PHENOTYPICFEATURE$.	has_symptom
+dda65736bb9b0c0b890311c7adbd7eb1ec2b5bb0	We report here on 3 cases of APS (3 women ages 16, 46, and 56 years) who presented with @PHENOTYPICFEATURE$, including tics, tremor, myoclonus, and a @DISEASE$, never or rarely reported in association with this disease.	has_symptom
+5fbeadecfacf34922fde49e8539ace551a037bc3	@DISEASE$ (CBS) is a rare cognitive and @PHENOTYPICFEATURE$ characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia.	has_symptom
+f73afc0da521f7ff7af5b15934c182ed50b80b52	The @DISEASE$ (CBS) is a clinical diagnosis that comprises a group of rare neurodegenerative diseases manifesting in @PHENOTYPICFEATURE$ and cognitive impairment.	has_symptom
+c007a8640d1c014f52a45376cfe4dcc23a80b650	The discussants suggested that the @DISEASE$ caused secondary @PHENOTYPICFEATURE$ and cerebral infarctions.	has_symptom
+4ab7f39654f0c03e4e6a8fd886e78cfced7fd8f2	Suppressed or inappropriately low PTH1-84 guides the diagnose toward tumoral @PHENOTYPICFEATURE$ and less frequently to granulomatous disease (sarcoidosis, tuberculosis, etc.), inadequate intake of 1alpha-hydroxyvitamin D or calcitriol, vitamin D or A intoxication, lithium intake, endocrinopathies (hyperthyroidism, @DISEASE$, etc.) or treatment with thiazides, among other possibilities.	has_symptom
+36785567a017ae4b963758250415f8b1e759bd82	Suppressed or inappropriately low PTH1-84 guides the diagnose toward @PHENOTYPICFEATURE$ hypercalcemia and less frequently to granulomatous disease (sarcoidosis, tuberculosis, etc.), inadequate intake of 1alpha-hydroxyvitamin D or calcitriol, vitamin D or A intoxication, lithium intake, endocrinopathies (hyperthyroidism, @DISEASE$, etc.) or treatment with thiazides, among other possibilities.	false
+c734e51c450658f9cf72cb08dc9216062f38d606	Suppressed or inappropriately low PTH1-84 guides the diagnose toward @PHENOTYPICFEATURE$ hypercalcemia and less frequently to granulomatous disease (sarcoidosis, tuberculosis, etc.), inadequate intake of 1alpha-hydroxyvitamin D or calcitriol, vitamin D or A intoxication, lithium intake, endocrinopathies (@DISEASE$, Addison's disease, etc.) or treatment with thiazides, among other possibilities.	false
+eaaaad8b1839057d0044c154e72cbf6f512c71e6	Suppressed or inappropriately low PTH1-84 guides the diagnose toward @PHENOTYPICFEATURE$ @DISEASE$ and less frequently to granulomatous disease (sarcoidosis, tuberculosis, etc.), inadequate intake of 1alpha-hydroxyvitamin D or calcitriol, vitamin D or A intoxication, lithium intake, endocrinopathies (hyperthyroidism, Addison's disease, etc.) or treatment with thiazides, among other possibilities.	false
+d22c9a79b27d054de17602e82f4a55411c498cee	We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly @PHENOTYPICFEATURE$, which are characteristic features of the @DISEASE$.	has_symptom
+ffc48c9a12fbb0ad5d7210ae4d2bee0a36aac12f	We describe a mother and her son with @PHENOTYPICFEATURE$, progeroid facies, @DISEASE$, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the SHORT syndrome.	false
+e14e04b1c7774e9dd5c7ef923666a9d3fb6ea650	We describe a mother and her son with @PHENOTYPICFEATURE$, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly @DISEASE$, which are characteristic features of the SHORT syndrome.	false
+b0d1f3162003195bfd600d236d5c898e971a4696	We describe a mother and her son with @PHENOTYPICFEATURE$, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the @DISEASE$.	false
+53547d125ec6e7ce104061d065c2ef86c5f41a37	We describe a boy with the manifestations of the @DISEASE$: lipoatrophy, @PHENOTYPICFEATURE$, minor facial anomalies, clinodactyly, and short stature.	has_symptom
+56a0ed3fbea8691879e8a85d0bd907c9bbd160cf	We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, @DISEASE$, minor facial anomalies, clinodactyly, and @PHENOTYPICFEATURE$.	false
+441bd666b1d857ec896430ca6185159d0df10c97	We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor @DISEASE$ anomalies, clinodactyly, and @PHENOTYPICFEATURE$.	false
+b6f23fa023c83f397e1fc3431dcdf404b0ebacd9	We describe a boy with the manifestations of the @DISEASE$: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and @PHENOTYPICFEATURE$.	false
+0989a8d3dacb53658b48fb695d047bc96cb80359	Little is known about the long term outcome of patients with @DISEASE$ (PNH) and epilepsy, particularly the course of @PHENOTYPICFEATURE$.	has_symptom
+21dfb5458c8e55ebbb4fc230818e7c9e53cbd508	@DISEASE$ (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+b9bcc3ee9d6677d4802a397bec2161335e044a34	@DISEASE$ (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and @PHENOTYPICFEATURE$.	false
+3661a3674096eed0aaee690c91e67767d332dfd2	Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+824f972bb3d311f01c93d987223151a7d7c56609	Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other @DISEASE$, epileptic seizures and @PHENOTYPICFEATURE$.	false
+97b4af0e2bf800454c243d732d29d6c043025433	Epilepsy associated with @DISEASE$ (PNH) is characterized by complex relationships between the heterotopic and the normotopic cortex during the interictal state and at @PHENOTYPICFEATURE$ onset.	has_symptom
+40e978ae1dea57d8c18c98e8ae1f2e48276b1e16	Patients with the developmental brain malformation of @DISEASE$ (PNH) often have both @PHENOTYPICFEATURE$ and dyslexia, and there is evidence to suggest that aberrant neuronal connectivity underlies both of these clinical features.	has_symptom
+59e148f03ee602a8a3d76f09108bbcca1f23bb20	@DISEASE$ (PNH) is a human neuronal migration disorder characterised by @PHENOTYPICFEATURE$ and conglomerates of neural cells around the lateral ventricles of the brain, caused by FLNA mutations.	has_symptom
+37e8d7d049d2c5d44b81623f5f6eab32a26081a3	We describe a patient with unilateral @DISEASE$ (PNH) and drug-resistant epilepsy, whose SEEG revealed that @PHENOTYPICFEATURE$ were arising from the PNH, with the almost simultaneous involvement of heterotopic neurons ("micronodules") scattered within the white matter, and subsequently the overlying cortex.	has_symptom
+b5bbf545971bbd45dbcbf29a736f94a6f08fa9b9	@DISEASE$ is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and @PHENOTYPICFEATURE$.	has_symptom
+1926639e7e4b35731ab801359a0e1a7062d49ce4	@DISEASE$, also known as thiamine responsive megaloblastic anemia (TRMA), is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus and @PHENOTYPICFEATURE$.	has_symptom
+539a83b19cb1dc6665bc09cb79ac3bae80c43f2e	@DISEASE$ (TRMA) is characterized by diabetes mellitus, megaloblastic anemia and @PHENOTYPICFEATURE$.	has_symptom
+bd67a55d6d878479ff1e4b50fde9dd40dad4c83c	@DISEASE$ (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and @PHENOTYPICFEATURE$.	has_symptom
+4dd00e3b7867fe9c7999ac5c70149df04cb88dcd	Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as @DISEASE$, is characterized by megaloblastic anemia, @PHENOTYPICFEATURE$, and diabetes mellitus.	has_symptom
+11cf4f99061faa7495b0ce0ee75d6487c61b80db	@DISEASE$ (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, @PHENOTYPICFEATURE$, and diabetes mellitus.	has_symptom
+3df57f7b2d78a4eab18aac69f16887e76832974c	@DISEASE$ is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and @PHENOTYPICFEATURE$.	has_symptom
+18743ecdee04833de51eb2a6a80347ad69e93972	@DISEASE$ (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive @PHENOTYPICFEATURE$.	has_symptom
+1095c04c4d34eadce10d9f666b93594633aaa826	Thiamine-responsive megaloblastic anemia (@DISEASE$) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset @PHENOTYPICFEATURE$.	has_symptom
+21de0984a91b58c5fd1204ac5a62719209285116	@DISEASE$ (TRMA) is an autosomal recessive disorder with features that include megaloblastic anemia, mild thrombocytopenia and leukopenia, @PHENOTYPICFEATURE$ and diabetes mellitus.	has_symptom
+f8192556e9e999968d11d5509c8564e9433f5734	@DISEASE$ is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive @PHENOTYPICFEATURE$.	has_symptom
+c5a538f6027ec4ade41da2b5a187d50acdaf6c69	The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome, but there are other @PHENOTYPICFEATURE$ in which erythrocyte acanthocytosis may also be seen, such as @DISEASE$ and pantothenate kinase-associated neurodegeneration.	has_symptom
+d7a97fe7cfe3657c16fa4fa73b22fdec7f9d50e9	@DISEASE$ (HDL2) and Huntington disease (HD) are adult-onset neurodegenerative diseases characterized by @PHENOTYPICFEATURE$, psychiatric disturbances and cognitive decline.	has_symptom
+4cce79a37bb963915da201bee85c4928301e3da3	However, there are a few exceptions: patients with Timothy syndrome, patients with @DISEASE$ carrying KCNQ1 mutations and LQT3 patients with 2:1 atrio-ventricular block and very early occurrence of @PHENOTYPICFEATURE$.	has_symptom
+789d855934370e1afc41a3d9aaf7a397eed7152c	@DISEASE$ is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, microcephaly, moderate mental retardation, typical craniofacial anomalies, and @PHENOTYPICFEATURE$ skin lesions.	has_symptom
+6dfd779401fa915f4ff8e75e0fdf3c2ffa7c0a15	Dubowitz syndrome is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, moderate mental retardation, typical craniofacial anomalies, and @DISEASE$ skin lesions.	false
+bb5e61973c63aaf9a2ec965d058fac982be50148	@DISEASE$ is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, moderate mental retardation, typical craniofacial anomalies, and eczematous skin lesions.	false
+3c4a613271f1171bd9114e90412973fe919b10fd	Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic hearing impairment DOORS syndrome and nonsyndromic @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+0a9fd7d3c1828d7930af1449ebf9f1e1d6247beb	Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic @PHENOTYPICFEATURE$ DOORS syndrome and nonsyndromic hearing impairment @DISEASE$.	has_symptom
+4705a50b2c8c528282ca5b0ae87f30634c2249a1	TBC1D24 in the mouse inner ear was immunolocalized predominantly to spiral ganglion neurons, indicating that @DISEASE$ @PHENOTYPICFEATURE$ might be an auditory neuropathy spectrum disorder.	has_symptom
+da378469f70c0c698b18e2a7da66d7506223a453	Although the current diagnostic criteria for @DISEASE$ (CAE) do not specifically exclude children with @PHENOTYPICFEATURE$ (GTCSs) occurring before or early in the course of the active absence seizures, some workers have suggested that they should be interpreted as doing so.	has_symptom
+cbda754bdc5a0eb947c60682782ca4ddc518fe11	Although the current diagnostic criteria for @DISEASE$ (CAE) do not specifically exclude children with generalized tonic clonic seizures (GTCSs) occurring before or early in the course of the active @PHENOTYPICFEATURE$, some workers have suggested that they should be interpreted as doing so.	false
+4f26d6bb21a8ae7259aa58b6d43b395e1f76f1e0	Although the current diagnostic criteria for childhood absence epilepsy (CAE) do not specifically exclude children with @DISEASE$ (GTCSs) occurring before or early in the course of the active @PHENOTYPICFEATURE$, some workers have suggested that they should be interpreted as doing so.	false
+4df3b138b5227f3ec3dc2b37aca4267677ece33c	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; @DISEASE$; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with @PHENOTYPICFEATURE$ only.	has_symptom
+705a21cdb77093bca11a4703d4ebbc3794f6632e	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; @DISEASE$; and epilepsy with generalized tonic-clonic seizures only.	false
+ffc6b2a01aa034cfd494f06c3db62c2f306ce6ea	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; @DISEASE$; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+2acb2e59db619d408b8ca3fdd0a7f26303bb1d43	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; @DISEASE$, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+cd330ddc96463fa255b77c20f83f820f9997b5e0	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with @DISEASE$ only.	false
+4ece533f1451f1c5059a2ba1a5bbf1df83262fb8	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic @DISEASE$ (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+42863d54ae4430813cf1ecc7a6424e4be79e5b13	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; @DISEASE$; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+9c8cf2bf75ab5c5e7608be9759a02e38efb37684	IGE with @PHENOTYPICFEATURE$ (GTCS) only: 102 (39.02%); @DISEASE$ (CAE): 35 (12.2%);	has_symptom
+b6bcefc55774927e6976b2e0348afba53fa6088d	Long-term outcomes of @PHENOTYPICFEATURE$ in a @DISEASE$ trial.	has_symptom
+0d1da88b5ad816334442558ab0cdcd433a4c146f	Idiopathic generalized epilepsies, i.e., juvenile myoclonic epilepsy (JME), @DISEASE$, and epilepsy with grand mal [@PHENOTYPICFEATURE$ (GTCS)], are the most common genetic epilepsies.	has_symptom
+f54f85da32f5b0d8825416552cb37258f5503ad6	Idiopathic generalized epilepsies, i.e., juvenile @PHENOTYPICFEATURE$ epilepsy (JME), childhood absence epilepsy, and epilepsy with grand mal [@DISEASE$ (GTCS)], are the most common genetic epilepsies.	false
+25fe7bf17bae6ea35a827f2d45e5512baefeda85	Idiopathic generalized epilepsies, i.e., juvenile @PHENOTYPICFEATURE$ epilepsy (JME), @DISEASE$, and epilepsy with grand mal [generalized tonic-clonic seizures (GTCS)], are the most common genetic epilepsies.	false
+be6f936e60e886dd771b8c22a0ebb0365c178640	Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, @DISEASE$, epilepsy with @PHENOTYPICFEATURE$, and early childhood myoclonic epilepsy.	has_symptom
+8b625a911d3777e60d50f0d40931d372fcc73016	Gene mapping in the idiopathic generalized epilepsies: juvenile @PHENOTYPICFEATURE$ epilepsy, childhood absence epilepsy, epilepsy with @DISEASE$, and early childhood myoclonic epilepsy.	false
+132941bb59869bf3ef427d207940509383ab07a3	Gene mapping in the idiopathic generalized epilepsies: juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy.	false
+61384b7b28348b443a081fda00e37fe2fb7cd611	Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, @DISEASE$, epilepsy with grand mal seizures, and early childhood @PHENOTYPICFEATURE$ epilepsy.	false
+6187204780d7cf8625a776bfffbcbee11c50b16b	Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with @DISEASE$, and early childhood @PHENOTYPICFEATURE$ epilepsy.	false
+de79adf7a502a09a2c9172ec9515f52a9610c198	Genetic generalized epilepsies (GGE) (@DISEASE$ (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with @PHENOTYPICFEATURE$ (GTCS)) are mainly determined by genetic factors.	has_symptom
+7617234a3dfb267ebc332f63f90885b923a46964	Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME) and epilepsy with @DISEASE$ (GTCS)) are mainly determined by genetic factors.	false
+41394ade9a0e2e016951c76c474f48524f07086f	Genetic generalized epilepsies (GGE) (@DISEASE$ (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors.	false
+6671ab9e7cddeb716067298fdba47738977bb72f	receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including @DISEASE$, @PHENOTYPICFEATURE$ and the epileptic encephalopathy, Dravet syndrome.	has_symptom
+5feef2cb833fe5db07d7fb081811c0e4580af5a2	Children with @DISEASE$ (CAE) may develop @PHENOTYPICFEATURE$ or juvenile myoclonic epilepsy.	has_symptom
+ddc9cdf51e501a176daf24804477fecf05131e44	Children with @DISEASE$ (CAE) may develop generalized tonic-clonic seizure or juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+6d3b692e2a76214673170591d7829e0b13673c5e	Children with Childhood Absence Epilepsy (CAE) may develop @DISEASE$ or juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+8388b0932ec2ab35ffdcc92da44dc8876e51c288	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @PHENOTYPICFEATURE$ only (EGTCSO).	has_symptom
+91bd5fc61298654c438ea44e900b9af090386ce6	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with @PHENOTYPICFEATURE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+03da76dd956a0e8758280cd2207bcb9d79426a63	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with @PHENOTYPICFEATURE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+7cb841f9955a892b6a39205c4284fee45ed95269	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+f5728e295d8313c9e2327baff1bb696c4a1af69a	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+2e101c7eca16aa052a4bde10bf71e22215c1539b	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with @PHENOTYPICFEATURE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @DISEASE$ only (EGTCSO).	false
+f44e63ae066e2435420be423f95e73787047fb16	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with @DISEASE$ only (EGTCSO).	false
+8fc6bbcf47a60a06cbfc031b7c897d53db5ad922	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @DISEASE$ only (EGTCSO).	false
+cb108a4a858fc984d738411c4ce47f9eae07abf8	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+752f2cade8ff1d9e3ca80d0e814df93da268768a	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+edce56c50811052653e9b074a719b5bb3e7a0e76	The @DISEASE$ is a genomic disorder characterized by @PHENOTYPICFEATURE$, developmental delay, microcephaly, and slight facial dysmorphism.	has_symptom
+aaeb50e7074a0e227d345eca37707b28622d657e	The @DISEASE$ is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight @PHENOTYPICFEATURE$.	false
+b96af08028c89b5a6a5f6437e35d463e59a6bdf6	The 3q29 microdeletion syndrome is a genomic disorder characterized by @DISEASE$, developmental delay, microcephaly, and slight @PHENOTYPICFEATURE$.	false
+ad0332ca464edd2d7c3c136e39cd75e8a1b68fac	The 3q29 microdeletion syndrome is a genomic disorder characterized by @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, and slight facial dysmorphism.	false
+7f02849a75377f5f303e6770244631aba96b67ba	The @DISEASE$ is a genomic disorder characterized by mental retardation, developmental delay, @PHENOTYPICFEATURE$, and slight facial dysmorphism.	false
+4ed36bde4fc6be4008c639e3ddac13a0cafa6dbd	Here we report a case of @DISEASE$ with marked thoracic hypoplasia, @PHENOTYPICFEATURE$ and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.	has_symptom
+e0542772833befe90ea3281fd3ebbb4c3c5ba3e7	Here we report a case of Jeune syndrome with marked @PHENOTYPICFEATURE$, @DISEASE$ and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.	false
+f13585ae21b4548fb6acb5fe1fd41d833a2c1509	Here we report a case of @DISEASE$ with marked @PHENOTYPICFEATURE$, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.	false
+4686607b72d551240bad8386439d6afb0b12e536	Here we report a case of @DISEASE$ with marked thoracic hypoplasia, micromelia and @PHENOTYPICFEATURE$, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.	false
+6e1c7256717dadc87f5033116e2408c2781c2de1	Here we report a case of Jeune syndrome with marked thoracic hypoplasia, @DISEASE$ and @PHENOTYPICFEATURE$, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.	false
+043f82251e8e16f6054b7e408c4752d1086608d7	Inactivating mutations in CaSR cause @DISEASE$(FHH1)and neonatal severe @PHENOTYPICFEATURE$(NSHPT), while activating mutations lead to autosomal dominant hypocalcemia type 1(ADH1)and Bartter syndrome type ?.	has_symptom
+e6edc1b2b5d235aba5be64485e61d2d00370b973	Because impaired Akt signaling has been tightly linked to skeletal muscle atrophy, we hypothesize that loss of Akt-dependent growth/survival cues due to impaired myotubularin function may be a critical factor underlying the severe @PHENOTYPICFEATURE$ characteristic of muscle fibers in patients with @DISEASE$.	has_symptom
+2a71731fe3b56382fcf081c010c8e968cc5fdd3f	Because impaired Akt signaling has been tightly linked to @PHENOTYPICFEATURE$, we hypothesize that loss of Akt-dependent growth/survival cues due to impaired myotubularin function may be a critical factor underlying the severe skeletal muscle atrophy characteristic of muscle fibers in patients with @DISEASE$.	has_symptom
+9de9ee41ae982a58639d9ad67148ae0bc2744e50	We report a rare case of giant @DISEASE$ with a first @PHENOTYPICFEATURE$ immediately after the initiation of dopamine agonist therapy.	has_symptom
+2d5df4ef2de0f2a4ca4ceb691dbc2fc0cbf59e72	We report a rare case of giant @DISEASE$ with a first @PHENOTYPICFEATURE$ due to rapid reduction of the tumor as a complication of dopamine agonist therapy.	has_symptom
+dca204118ce98b0c0fe7c07393b5672b7a5d358c	We report a rare case of giant @DISEASE$ with a first epileptic seizure due to rapid reduction of the @PHENOTYPICFEATURE$ as a complication of dopamine agonist therapy.	false
+506d9af93bf5ab16eb432dc1e356ea9847ef2c22	We report a rare case of giant prolactinoma with a first @DISEASE$ due to rapid reduction of the @PHENOTYPICFEATURE$ as a complication of dopamine agonist therapy.	false
+ff62b17ce7f7aa7c538fef30b7a1fccb18e9d7a2	Mutations in VLDLR as a cause for @DISEASE$ with @PHENOTYPICFEATURE$ (dysequilibrium syndrome).	has_symptom
+4f12e05924479cf19af4ba37467ca5574f98a859	We used these techniques to investigate two Norwegian families with an @DISEASE$ with cataracts and @PHENOTYPICFEATURE$.	has_symptom
+a7b7c57b763faa58a62de5598e4da0963caf5ddb	We used these techniques to investigate two Norwegian families with an @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+bd116ce879b530f2f1b8314cdfe02e257711eb08	We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fa6bd318926bc0d006edaeb2c6d1ae567269bcfe	One of the families was originally diagnosed with Marinesco-Sj?gren syndrome based on an @DISEASE$ with cataracts and @PHENOTYPICFEATURE$.	has_symptom
+6ca1167d2a7b48c5caa0290519ed01ada82d1bdc	One of the families was originally diagnosed with Marinesco-Sj?gren syndrome based on an autosomal recessive cerebellar ataxia with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+01ae936fe55a22f91824a35c858748ddb1bda560	One of the families was originally diagnosed with Marinesco-Sj?gren syndrome based on an @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+94acefe4e46fe3b5270aa1b7e7e6c75669fa1414	One of the families was originally diagnosed with Marinesco-Sj?gren @DISEASE$ based on an autosomal recessive cerebellar ataxia with @PHENOTYPICFEATURE$ and mental retardation.	false
+3566708b95e256c388b66788a0bec3481ef6f1cb	Mutations in SNX14 cause a distinctive @DISEASE$ and @PHENOTYPICFEATURE$ syndrome.	has_symptom
+ece64ee308d1caa636fb66cfa3c6f48894f49d67	To ascertain the genetic and functional basis of complex @DISEASE$ (ARCA) presented by 2 siblings of a consanguineous family characterized by motor neuropathy, cerebellar atrophy, spastic paraparesis, @PHENOTYPICFEATURE$, and slow ocular saccades.	has_symptom
+04c14b901af6e4661c3e0fa742604fc139255f6c	Pathogenic variants in GRM1 have been reported only three times in humans, causing @DISEASE$ with early-onset and @PHENOTYPICFEATURE$ or dominant forms of cerebellar ataxia with less severe phenotype in adults.	has_symptom
+84a32c47331a9be13cba421216ff21791e9bd6a2	Pathogenic variants in GRM1 have been reported only three times in humans, causing autosomal-recessive cerebellar ataxia with early-onset and @DISEASE$ or dominant forms of @PHENOTYPICFEATURE$ with less severe phenotype in adults.	false
+6c0e6740c5718253dd723340fcc6883a41cfa66c	Pathogenic variants in GRM1 have been reported only three times in humans, causing @DISEASE$ with early-onset and intellectual disability or dominant forms of @PHENOTYPICFEATURE$ with less severe phenotype in adults.	false
+a9727d6ee7fa91ac96155baee384fae0b0ab7d88	The tumour suppressor gene WWOX is mutated in @DISEASE$ with epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+3f27c33f8e75c7019931fa428b4e43fa637dc0bd	The @PHENOTYPICFEATURE$ suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and @DISEASE$.	false
+9c1930b97acc91350fda3d29b4b110eec663a243	The @PHENOTYPICFEATURE$ suppressor gene WWOX is mutated in @DISEASE$ with epilepsy and mental retardation.	false
+49796eaae4040d228726f5f22a617b4b34b3d6d9	Marinesco-Sj?gren syndrome is an @DISEASE$, characterised by cerebellar ataxia, myopathy, cataracts and @PHENOTYPICFEATURE$, due to mutations in the SIL1 gene.	has_symptom
+d3466e674f18a5312406adb6cdfa0e0c2de0d242	Marinesco-Sj?gren @DISEASE$ is an autosomal recessive cerebellar ataxia, characterised by @PHENOTYPICFEATURE$, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene.	false
+5aa08b7b23b22bc17c1abf2cde2ecf37a052078e	Marinesco-Sj?gren @DISEASE$ is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, @PHENOTYPICFEATURE$ and intellectual disability, due to mutations in the SIL1 gene.	false
+a848a1b5eacb9396e2a520832201f4648e1b43e7	Marinesco-Sj?gren syndrome is an @DISEASE$, characterised by @PHENOTYPICFEATURE$, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene.	false
+20a0d080ca78e249e98a23b134a5d7d3d7c89489	Marinesco-Sj?gren syndrome is an @DISEASE$, characterised by cerebellar ataxia, myopathy, @PHENOTYPICFEATURE$ and intellectual disability, due to mutations in the SIL1 gene.	false
+b4309419d912fb7574d6b9f837f5815a358bc418	Marinesco-Sj?gren syndrome is an autosomal recessive cerebellar ataxia, characterised by @PHENOTYPICFEATURE$, myopathy, cataracts and @DISEASE$, due to mutations in the SIL1 gene.	false
+8ddaf78480e8aae55ac573269d8e1d88c252bd1a	Marinesco-Sj?gren syndrome is an autosomal recessive cerebellar ataxia, characterised by @PHENOTYPICFEATURE$, @DISEASE$, cataracts and intellectual disability, due to mutations in the SIL1 gene.	false
+8cb2db5e1d80edd864950abcfb2de00c4a8fad54	Marinesco-Sj?gren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, @DISEASE$, @PHENOTYPICFEATURE$ and intellectual disability, due to mutations in the SIL1 gene.	false
+1be07de3d2764fdd208f99e7c20311651c2e49de	Marinesco-Sj?gren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, @PHENOTYPICFEATURE$ and @DISEASE$, due to mutations in the SIL1 gene.	false
+0359aa7ba4df7805f228c04ddddb4063656915d9	SNX14 is involved in maintaining normal neuronal excitability and synaptic transmission, and a mutation has recently been found to cause @DISEASE$ and @PHENOTYPICFEATURE$ syndrome in humans.	has_symptom
+75d84ae4a61f531e61bf5d281151b48bcc46d6f4	We attempted to identify the gene responsible for @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+771faf90e96bf2159e38a998af9ad8ffa91cc174	The patient presented malaise, paresthesias in perioral and extremity areas, intense @PHENOTYPICFEATURE$ and @DISEASE$ hypotension, followed by severe itch and disseminated cutaneous rash.	has_symptom
+a72af0354df7da9ee1366f33c44039ac7806f317	The patients presented with @DISEASE$ hypertension, @PHENOTYPICFEATURE$ and paresthesia.	has_symptom
+60d6c9d205876c0399bc7b123cfbfdf0d10b1dc3	In addition to this triad, other variable features of @DISEASE$ have been described, including adermatoglyphia, @PHENOTYPICFEATURE$, and palmoplantar hyperkeratosis.	has_symptom
+a282dc444fc3193e92c8979b0a98f766c4221fe7	In addition to this triad, other variable features of dermatopathia pigmentosa reticularis have been described, including adermatoglyphia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d3089e7bcf5bbe08e5d5de5150c2ff7fe9efe528	In addition to this triad, other variable features of @DISEASE$ have been described, including adermatoglyphia, hypohidrosis or hyperhidrosis, and @PHENOTYPICFEATURE$.	false
+3f42ec669d12226378c67440dafcf1cf375fd4fc	The clinical presentations of @DISEASE$ include mental deficiency, @PHENOTYPICFEATURE$, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features.	has_symptom
+329a9477d83b22a59c2fe9ccbee27580343f7671	The clinical presentations of @DISEASE$ include mental deficiency, hypogonadism, severe @PHENOTYPICFEATURE$, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+c4a35e980298a4acef49b8d5b87b667739063a99	The clinical presentations of @DISEASE$ include @PHENOTYPICFEATURE$, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+32ea3762b752050b420af47c10ef33051683b95f	The clinical presentations of 49, XXXXY syndrome include @PHENOTYPICFEATURE$, @DISEASE$, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+51a444f036bae9b2029a17801973977f8bdaef93	The clinical presentations of 49, XXXXY syndrome include mental deficiency, @DISEASE$, severe @PHENOTYPICFEATURE$, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+c4f16e4c5ba0638f30550e48b656453196ebcf1e	@DISEASE$ is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+35ae1587c221bfe5c5133a117ff56b6df8e9950c	49,XXXXY syndrome is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+16f28f8bfba23bcbecf1df51c71db0d93ba960b7	@DISEASE$ is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic hypogonadism and @PHENOTYPICFEATURE$.	false
+4a5726a4579568118e93cd0dceda2ff75013bc3c	Periocular and ocular findings in patients with @DISEASE$ included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), ptosis (n = 5), anterior polar cataract (n = 1), @PHENOTYPICFEATURE$ from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	has_symptom
+eea330eac549ebad2af4a446a0d90f4d7d389cad	Periocular and ocular findings in patients with @DISEASE$ included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @PHENOTYPICFEATURE$ (n = 5), anterior polar cataract (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+a9e4888f94e263324141d7e139925aadd16aae0c	Periocular and ocular findings in patients with PHACES syndrome included @DISEASE$ involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @PHENOTYPICFEATURE$ (n = 5), anterior polar cataract (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+f3ef73beab293af42296e7ea4f616a0e9961a117	Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @PHENOTYPICFEATURE$ (n = 5), anterior polar cataract (n = 1), @DISEASE$ from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+e9f4cc5d8a4ceda32f5f206e737170bf53ad9b93	Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @PHENOTYPICFEATURE$ (n = 5), anterior polar @DISEASE$ (n = 1), optic atrophy from optic neuropathy (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+70622b4102797e9747d775a17d04abf81981a530	Periocular and ocular findings in patients with PHACES syndrome included hemangioma involving ocular structures (n = 6), strabismus (n = 4), amblyopia (n = 5), proptosis (n = 2), @PHENOTYPICFEATURE$ (n = 5), anterior polar cataract (n = 1), optic atrophy from @DISEASE$ (n = 1), heterochromia (n = 1), and refractive error requiring glasses (n = 2).	false
+28012df212132fc469e69328e3c63e85e7465d71	The loss of function mutations (biallelic) in frataxin (FXN) has primarily been implicated in Friedreich's @PHENOTYPICFEATURE$ (FRDA), an @DISEASE$.	has_symptom
+399f52cd054c9000e86a9825696ff9590b9cd791	Early-onset @PHENOTYPICFEATURE$ with oculomotor apraxia and hypoalbuminemia is an @DISEASE$ characterized by oculomotor apraxia, peripheral neuropathy, and hypoalbuminemia.	has_symptom
+37f1497c1f655486b28936af6c15d5a53c81c208	Early-onset ataxia with oculomotor apraxia and hypoalbuminemia is an @DISEASE$ characterized by oculomotor apraxia, @PHENOTYPICFEATURE$, and hypoalbuminemia.	false
+d5d6b05b3cb52319f4f4d952dfc9412306f477db	Early-onset @DISEASE$ with oculomotor apraxia and hypoalbuminemia is an autosomal recessive cerebellar ataxia characterized by oculomotor apraxia, @PHENOTYPICFEATURE$, and hypoalbuminemia.	false
+b0eec070ba3ba27169a998812499fa3ea0bceacf	Friedreich's @PHENOTYPICFEATURE$ is the most frequent @DISEASE$.	has_symptom
+e3e273c8d2cf502b576e256b6248273ad82edafc	Friedreich @PHENOTYPICFEATURE$ (FA) is the most frequent type of @DISEASE$, occurring at a mean age of 16 years.	has_symptom
+41811d9752260ac04e523e3d2c02408ccddb8bec	Friedreich @PHENOTYPICFEATURE$ (FA) is the most frequent @DISEASE$.	has_symptom
+7ca44dc9c30ee008511fe5ee5b99d65959f615c9	Friedreich's @PHENOTYPICFEATURE$ is an @DISEASE$ caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress.	has_symptom
+e89bc26e7d5dbfc38d0cd352d21c021b942a6198	Bandera's neonatal @PHENOTYPICFEATURE$ (BNAt) is an @DISEASE$ that affects members of the Coton de Tulear dog breed.	has_symptom
+6b5883e583265732fbaabf5806c818aefcfb25d1	Major causes of @DISEASE$ with retinal degeneration, including Friedreich @PHENOTYPICFEATURE$ and congenital disorders of glycosylation, were also excluded.	has_symptom
+cf683b74a378b15c8fe1be4b532e888fcb24998a	Early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH) is one of the most common forms of @DISEASE$.	has_symptom
+fe418f4b8abfb96c0b17eb7d5232d409a1474c88	Early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH) is one of the most common forms of @DISEASE$.	false
+7da53a66a2e5e0c53b7ac78575fd58193c3b6554	Early-onset @DISEASE$ with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH) is one of the most common forms of autosomal recessive cerebellar ataxia.	false
+9a9d634b914bea592fe9953cff9d7d0771c67fe4	Early-onset @DISEASE$ with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH) is one of the most common forms of autosomal recessive cerebellar ataxia.	false
+fcaec4f7e6cd8d367ec611b7ed693cdacce5a8d2	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH) is one of the most common forms of @DISEASE$.	false
+680a8072adf994cb65233d8beed59ab817ab41fb	@DISEASE$ 2 (ARCA2) is a recently identified recessive @PHENOTYPICFEATURE$ due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene.	has_symptom
+c1c962957d16de3d59e38700ccfb0c47e9f7846a	Lack of @PHENOTYPICFEATURE$ in @DISEASE$: a patient survey.	has_symptom
+a7c6aa5cb841c2becd28f4214cc3bd012668f008	[Anesthetic management of a child with @DISEASE$ associated with @PHENOTYPICFEATURE$].	has_symptom
+aecda5ab3398bac3eb1cc19ef1ec4edd62c4cb19	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, @PHENOTYPICFEATURE$, and behavior problems.	has_symptom
+2bcc34c886ebb701b646ac2c9e293b4e93d67e1d	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, @DISEASE$, and behavior problems.	false
+30ed90cb4d53e1d4e077ca5d1b08a6c9cef13674	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, macrocephaly, bone dysplasia, short stature, @DISEASE$, and behavior problems.	false
+adeff6facf04c90e75646f9937c42a3456b7f007	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, @PHENOTYPICFEATURE$, sleep apnea, and behavior problems.	false
+51449dc0101fb38ca7a8d2dec0eaad74a92b9c34	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @PHENOTYPICFEATURE$, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+0e525c11b34ce54d06317a176a1d55aa6c6d500c	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @PHENOTYPICFEATURE$, bone dysplasia, short stature, @DISEASE$, and behavior problems.	false
+3ec3bd4bb6a8309299c06de7f28d03b36c50f5a9	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+2c8f244b607390c3c2846cbe8dd5289c92d2fb58	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+be49887285686ac406c9f58d6fb0150fcb7d6e39	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, and behavior problems.	false
+223ec5768c2e984684c59aea4f324eca8768e628	He often showed central type @PHENOTYPICFEATURE$ during the sleep stage 2, in addition to common obstructive apnea in @DISEASE$.	has_symptom
+2deeeea93211569215263c0ea933742ddec938cc	@DISEASE$ and associated @PHENOTYPICFEATURE$ cured by CPAP and surgery.	has_symptom
+8f4ba901863af9ef9411c3ae357caefd9a0f8af4	The present case is a 5 year old girl having linear skin atrophy with fat herniation, skeletal abnormalities in the form of polysyndactyly, facial asymmetry, @PHENOTYPICFEATURE$ with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with @DISEASE$.	has_symptom
+866da2d309da0790191a08c743109144455f0777	The present case is a 5 year old girl having linear skin atrophy with fat herniation, @PHENOTYPICFEATURE$ in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with @DISEASE$.	false
+480bb0e370f6bca93f309d5bf9b0fa4d7e4cfdb8	The present case is a 5 year old girl having linear @DISEASE$ with fat herniation, @PHENOTYPICFEATURE$ in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome.	false
+4de2bad3273035e936f34dba5383724555199d88	The present case is a 5 year old girl having linear skin atrophy with fat herniation, @PHENOTYPICFEATURE$ in the form of polysyndactyly, facial asymmetry, @DISEASE$ with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome.	false
+6b708fb10c2c1c1c73a4680b74c0eba85eee466a	The present case is a 5 year old girl having linear skin atrophy with fat herniation, @PHENOTYPICFEATURE$ in the form of polysyndactyly, facial asymmetry, squint with @DISEASE$ iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome.	false
+bee4d4a0f3e97f944b1b23c3038cc38d31ed9347	A 9-year-old girl born to healthy parents showed manifestations suggestive of @DISEASE$ (AT), such as @PHENOTYPICFEATURE$, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements.	has_symptom
+0bf85b2300e2258523fb0a1c836c563899d02b62	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as @DISEASE$ (AT) variants V1 and V2, is characterised by microcephaly, typical facies, @PHENOTYPICFEATURE$, immunodeficiency, and chromosomal instability.	has_symptom
+096cbd3ae778a58685bddb440fa5c62dc4399394	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, @DISEASE$, and chromosomal instability.	false
+fdeb649eb742c97343886a560ebc68d5d25523d8	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as @DISEASE$ (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+2bce0ea18d89c036efba90a38b4e2718ce28e586	Nijmegen breakage syndrome (@DISEASE$), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+e7b3eaed818d3406bbf6c00d73b5c6d32c603358	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, @DISEASE$, immunodeficiency, and chromosomal instability.	false
+7282183689cdc0039ce765db111ff7d0422bc79c	@DISEASE$ (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+be738e99ac51c21dc6273dadb1cf7d6fe20861f3	We report on a Mexican boy with microcephaly, @PHENOTYPICFEATURE$, and a high frequency of chromosome aberrations with rearrangements involving chromosomes 7 and 14, typical of @DISEASE$ (AT) patients.	has_symptom
+3be0593ae38067bccc871adea686aed4aaa2e04d	We report on a Mexican boy with @PHENOTYPICFEATURE$, @DISEASE$, and a high frequency of chromosome aberrations with rearrangements involving chromosomes 7 and 14, typical of ataxia telangiectasia (AT) patients.	false
+32f042d80da4b951720240707f900d23732effbc	We report on a Mexican boy with @PHENOTYPICFEATURE$, short stature, and a high frequency of chromosome aberrations with rearrangements involving chromosomes 7 and 14, typical of @DISEASE$ (AT) patients.	false
+3bbf4c8a00600cd1666b51da06668a743d519b44	@DISEASE$ (FAS) is characterized in part by @PHENOTYPICFEATURE$, as well as craniofacial and ocular anomalies.	has_symptom
+1fcc99da7b998be8fd63954396c87406477ee262	Indications of problem drinking predicted facial features associated with @DISEASE$ and @PHENOTYPICFEATURE$ (i.e., lower WPPSI Verbal IQ scores and lower scores on a test of receptive language function, the Token Test).	has_symptom
+7cce7bfcfaf44df1abc63b8d33f9d41d78d37362	@PHENOTYPICFEATURE$ in nonretarded adults with @DISEASE$.	has_symptom
+d363201d0fb99192a0c59d49221fdece5c9a345f	The features of CNS involvement in human FAS (@DISEASE$) and FAE (fetal alcohol effects) were developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+e69e87a6608dbd1bf8e38653ceaae1124b8b1783	@DISEASE$ (FAS) is a distinct pattern of malformation and @PHENOTYPICFEATURE$, to date associated only with advanced stages of maternal alcoholism.	has_symptom
+8f9c70c5d2f2702f2d46229c722604334a0ebcfd	Heavy drinking can also cause mild anterograde amnesias, temporary @PHENOTYPICFEATURE$, sleep problems, and peripheral neuropathy; cause gastrointestinal problems; decrease bone density and production of blood cells; and cause @DISEASE$.	has_symptom
+41d3648c9cdb05af85d801a67787f4e445ae9433	Heavy drinking can also cause mild anterograde amnesias, temporary cognitive deficits, sleep problems, and @PHENOTYPICFEATURE$; cause gastrointestinal problems; decrease bone density and production of blood cells; and cause @DISEASE$.	false
+f611837c908b8730dd8afc88a6c41f2d85468aef	Heavy drinking can also cause mild anterograde amnesias, temporary @DISEASE$, sleep problems, and @PHENOTYPICFEATURE$; cause gastrointestinal problems; decrease bone density and production of blood cells; and cause fetal alcohol syndrome.	false
+a1940c4045d7ae97a142da1fd53986818cd8f3af	The distinctive pattern of abnormalities that characterizes @DISEASE$ (FAS) includes: pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, agenesis of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (heart defects, renal and skeletal malformations).	has_symptom
+660ad74235d35ff0d21b5d300873e04a5efedc0c	The distinctive pattern of abnormalities that characterizes @DISEASE$ (FAS) includes: pre- and postnatal growth retardation, cognitive deficit, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, agenesis of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (@PHENOTYPICFEATURE$, renal and skeletal malformations).	false
+ea0c3ed684492d87a63e4dda0539ec31d6d9b6a2	The distinctive pattern of abnormalities that characterizes fetal alcohol syndrome (FAS) includes: pre- and postnatal growth retardation, cognitive deficit, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, @PHENOTYPICFEATURE$), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, @DISEASE$) and organ anomalies (heart defects, renal and skeletal malformations).	false
+353d8af3afa64b298a0d70fba5e5a2c0a4c07b3f	The distinctive pattern of abnormalities that characterizes fetal alcohol syndrome (FAS) includes: pre- and postnatal growth retardation, @DISEASE$, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, agenesis of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (@PHENOTYPICFEATURE$, renal and skeletal malformations).	false
+495234191d6094f6baba11f4af621d7934cee3f8	The distinctive pattern of abnormalities that characterizes fetal alcohol syndrome (FAS) includes: pre- and postnatal growth retardation, cognitive deficit, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, agenesis of the corpus callosum), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, @DISEASE$) and organ anomalies (@PHENOTYPICFEATURE$, renal and skeletal malformations).	false
+02387646cac8a65b47e21fa18e02eea072dd708c	The distinctive pattern of abnormalities that characterizes fetal alcohol syndrome (FAS) includes: pre- and postnatal growth retardation, @DISEASE$, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, @PHENOTYPICFEATURE$), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (heart defects, renal and skeletal malformations).	false
+cc96c0f72af81b69bf426823ea6d8036d2dec80d	The distinctive pattern of abnormalities that characterizes @DISEASE$ (FAS) includes: pre- and postnatal growth retardation, cognitive deficit, behavior and language disorders, cerebral malformations (schizencephaly, polymicrogyria, @PHENOTYPICFEATURE$), facial changes (short palpebral fissures, low nasal bridge, anomalies of the auricle, maxillary hypoplasia, cleft lip and palate) and organ anomalies (heart defects, renal and skeletal malformations).	false
+e62c7ccc6f11a5a03769e7243e5b930219437aef	@DISEASE$ (FAS) is associated with behavioral and @PHENOTYPICFEATURE$.	has_symptom
+7b9f09634f2443b4a48c20a608be1a98d99d7ee6	Children of mothers who abuse alcohol during pregnancy can suffer varying degrees of neurological abnormality, @PHENOTYPICFEATURE$, and behavioral problems, and in the worst case, are diagnosed with @DISEASE$ (FAS).	has_symptom
+55a44d0b77f7d07c4d38f959de5488889d73215a	Children of mothers who abuse alcohol during pregnancy can suffer varying degrees of @PHENOTYPICFEATURE$, cognitive impairment, and behavioral problems, and in the worst case, are diagnosed with @DISEASE$ (FAS).	false
+a99c2867d889bdde27bba9ef5979c70f0a43e20e	Children of mothers who abuse alcohol during pregnancy can suffer varying degrees of @PHENOTYPICFEATURE$, @DISEASE$, and behavioral problems, and in the worst case, are diagnosed with fetal alcohol syndrome (FAS).	false
+abe6c303074281e5f1bcacc42d159cca25c88fd6	The most common presentation of @DISEASE$ was a small homogeneous hypovascular @PHENOTYPICFEATURE$ both on CT and MRI.	false
+c48b0086cc870d43114f8042d32eff5aba85e967	The third patient had a history of idiopathic @DISEASE$ (IGE) with intractable @PHENOTYPICFEATURE$.	has_symptom
+9de13cdf5e5c1e6a01409edf5ea721eab4e7a3b1	The possible mechanism of hemiconvulsive @PHENOTYPICFEATURE$ in idiopathic @DISEASE$ is discussed.	has_symptom
+51c9532469f13f0e605e1f3043c8751a11c5716f	'Learning difficulties in children with epilepsy with idiopathic @DISEASE$ and well-controlled @PHENOTYPICFEATURE$'.	has_symptom
+0f434911787d0c5564a53f43709d34d04f925594	Epilepsy with myoclonic absences is a rare @DISEASE$ syndrome with distinctive @PHENOTYPICFEATURE$.	has_symptom
+612f94d2667c94a3dc82689706e6611f3f88710a	The use of computer-assisted-telephone-interviewing to diagnose @PHENOTYPICFEATURE$, epilepsy and idiopathic @DISEASE$.	has_symptom
+3fddd22e9623e0f87bfcf0d27f5f85961a230dbe	Doing without valproate in women of childbearing potential with idiopathic @DISEASE$: Implications on @PHENOTYPICFEATURE$ outcome.	has_symptom
+d89ce69b7846dcd2764b4bf9d953e2ff226cff12	Absence epilepsy and other idiopathic @DISEASE$ syndromes may occur with @PHENOTYPICFEATURE$ onset in childhood or adulthood.	has_symptom
+20a73f4ecf5a3341d6e862a3e7779c784bf74f3f	Chronic management of @PHENOTYPICFEATURE$ in the syndromes of idiopathic @DISEASE$.	has_symptom
+a98d211bb38ba502f33aede1c0f87cfdbaf1d96c	@PHENOTYPICFEATURE$ precipitated by thinking have been described in patients with idiopathic @DISEASE$.	has_symptom
+a53d9c701c1b6a72a0f128279902d74c9679053a	Eyelid twitching @PHENOTYPICFEATURE$ and generalized tonic-clonic convulsions: a syndrome of idiopathic @DISEASE$.	has_symptom
+40f4f673b005a5de8599f8101ed27a7fec838e58	A rare case report of simultaneous presentation of myopathy, Addison's disease, primary @PHENOTYPICFEATURE$, and Fanconi syndrome in a child diagnosed with @DISEASE$.	has_symptom
+1df34bd1c874b4735a182898968cc768bc683fd6	@PHENOTYPICFEATURE$ and insulin-dependent diabetes mellitus in a patient with @DISEASE$ harbouring a mitochondrial DNA deletion.	has_symptom
+0a7619c8cb892194a27b929fb90bf2af47b40007	@PHENOTYPICFEATURE$ and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with @DISEASE$.	has_symptom
+7c162e97c3be3987a044014b44e277a0e2f70aae	Hypoparathyroidism and @PHENOTYPICFEATURE$ associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with @DISEASE$.	false
+1c7441db4caf88e8bc5a3a6f6e14d12e5287bee2	@DISEASE$ and @PHENOTYPICFEATURE$ associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.	false
+c1f92524fca7588e5b3aa7f24960082339822314	Three brothers with mental and physical retardation, hydrocephalus, @PHENOTYPICFEATURE$, internal malformations, speech disorder, and facial anomalies: @DISEASE$.	has_symptom
+09aff81e6758ceef89f76e7ecbe58a26f36a89cd	Three brothers with mental and physical retardation, hydrocephalus, @DISEASE$, internal malformations, @PHENOTYPICFEATURE$, and facial anomalies: Mutchinick syndrome.	false
+0549099ba5bc14e25cf8c377fdf09d2460264c12	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, @DISEASE$, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.	false
+9f427c693748ab8c85e1b3bff0d667572bdbce9a	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, microcephaly, internal malformations, speech disorder, and facial anomalies: @DISEASE$.	false
+a7a101db8f8c92a3313e30861bafcfdda303616a	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, microcephaly, internal malformations, speech disorder, and @DISEASE$ anomalies: Mutchinick syndrome.	false
+f06da4fd0b610ee33af81a981c57324997e899da	Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, @PHENOTYPICFEATURE$, and @DISEASE$ anomalies: Mutchinick syndrome.	false
+e86cdfe100980bf01feee544468537dd3eaf5ff4	Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, @PHENOTYPICFEATURE$, and facial anomalies: @DISEASE$.	false
+d89dadd22151c23e9a079f87878978bb7402b996	Gene therapy in cardiovascular disease is aiming to treat heart failure from ischemic and non-ischemic causes, peripheral artery disease, venous ulcer, pulmonary @PHENOTYPICFEATURE$, atherosclerosis and monogenic diseases, such as @DISEASE$.	has_symptom
+d9cc8f1018f40396037348df9a1d595c133e54f5	We retrospectively evaluated echocardiographic recordings of 20 patients with ALAC, 20 patients with @DISEASE$-related cardiomyopathy (FD), and 20 patients with concentric @PHENOTYPICFEATURE$ left ventricular hypertrophy (HLVH) matched for mean LV mean thickness.	has_symptom
+98614007cc4d882465940c782afce5d46896bf3f	Consecutive hypertrophic patients with CA, isolated arterial @PHENOTYPICFEATURE$, @DISEASE$, and Friedreich ataxia (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	has_symptom
+68bad1d1bb5a01e23165f668afaced1864d66045	Consecutive hypertrophic patients with CA, isolated arterial @DISEASE$, Fabry disease, and Friedreich @PHENOTYPICFEATURE$ (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	false
+f0f4cd86b0fe206d36b8e185d121b2fe68b5ccd6	Consecutive hypertrophic patients with CA, isolated @DISEASE$ hypertension, Fabry disease, and Friedreich @PHENOTYPICFEATURE$ (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	false
+48336615e46a75add71e306a1dfaa874dee6c2d3	Consecutive hypertrophic patients with CA, isolated arterial hypertension, @DISEASE$, and Friedreich @PHENOTYPICFEATURE$ (n=25 per group) were investigated; 25 healthy volunteers served as a control group.	false
+f29ade671d4fdae7b708ff445ec7b987b537146a	Deceleration time of early filling was significantly lower in patients with CA (147?46 milliseconds) compared with those with isolated arterial @PHENOTYPICFEATURE$, @DISEASE$, or control subjects (all P<0.0125).	has_symptom
+040765de4cca95f4f4bd8d773bed0b9566dcf93a	We present the prevalence of proteinuria, kidney disease and @PHENOTYPICFEATURE$ in @DISEASE$ and discuss treatment goals for the treatment of this unusual form of proteinuric kidney disease.	has_symptom
+a42a6cbb45351793adf95425514ba74a13edf888	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, hypophosphatemia, @PHENOTYPICFEATURE$, and @DISEASE$ bone disease.	has_symptom
+f8369d6a4f77bfbd04e46766ef54cb40c7ebabc8	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, @PHENOTYPICFEATURE$, @DISEASE$, and rachitic bone disease.	false
+b8ae32f841af25d439d948057b6f9a2574e90881	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, @PHENOTYPICFEATURE$, hypocalcemia, and @DISEASE$ bone disease.	false
+603a5e4bc4dc1723467d82379e27b4d3c5420385	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, @PHENOTYPICFEATURE$, hypocalcemia, and rachitic @DISEASE$.	false
+183da1fa69bab434746e5ea4ab986d3be0dacbc7	We report an infant in whom @DISEASE$ was diagnosed at 4 weeks who presented with hypercalcemia, @PHENOTYPICFEATURE$, and medullary nephrocalcinosis.	has_symptom
+71c9c6f36341f33e20ff10b43e4d4a045c5dfb06	We report an infant in whom @DISEASE$ was diagnosed at 4 weeks who presented with @PHENOTYPICFEATURE$, hypercalciuria, and medullary nephrocalcinosis.	false
+e19c66c282bf06da95a27be572902aba17225e50	We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with @PHENOTYPICFEATURE$, @DISEASE$, and medullary nephrocalcinosis.	false
+6777d95c32eb56a9d704d7df424402e71809f153	@PHENOTYPICFEATURE$ and achalasia have also been occasionally associated with adrenal insufficiency (@DISEASE$).	has_symptom
+750299285bab96ae0b2881e0f175521aac80de2d	@DISEASE$ is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13, designated as "AAA" (Achalasia, Addisonianism @PHENOTYPICFEATURE$).	has_symptom
+ff204d4e0492492fc723edc4e9cd417b417435a5	@DISEASE$ (COXPD7) is a rare disorder of mitochondrial metabolism that results in @PHENOTYPICFEATURE$ and Leigh syndrome-like disease.	has_symptom
+63b2a4fd1e5724b4ef9132af8040e3c66fcc5a5e	The @DISEASE$, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, @PHENOTYPICFEATURE$, and thickening and hypertrichosis of the skin, unlike that seen in other genodermatoses.	has_symptom
+b27ab48bda1d5dbeffacff3e3bef8aa672838b5e	The @DISEASE$, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities, and thickening and @PHENOTYPICFEATURE$ of the skin, unlike that seen in other genodermatoses.	false
+060bcfbbd7fbe1b86f2fa423a9b7e085b0fc0963	The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, @DISEASE$, and thickening and @PHENOTYPICFEATURE$ of the skin, unlike that seen in other genodermatoses.	false
+632a9ee217c2ef8e16401f3db2e00da32d9107a9	@DISEASE$ is a rare bone disease characterized by linear @PHENOTYPICFEATURE$ and associated soft tissue abnormalities.	has_symptom
+a60678bafe3957271fdee66e7bf87d32793345fe	@DISEASE$ is a sporadic disease of uncertain etiology characterized by asymmetric @PHENOTYPICFEATURE$ and functional impairment.	has_symptom
+ef35b5ff6f541e56415fdd57818e707369c38862	@DISEASE$ is a very rare bone disease of unknown etiology characterised by linear @PHENOTYPICFEATURE$ and associated with fibrosis of soft tissues and the skin.	has_symptom
+dce3d46b1fb85df8c5aab8bd2a962cd584b48018	@DISEASE$ is a rare, progressive bone disease accompanied by @PHENOTYPICFEATURE$ and soft tissue fibrosis.	has_symptom
+a200aeabe54b7d33804809f101214070db830711	@DISEASE$ is a bone @PHENOTYPICFEATURE$ disorder characterized by flowing bone thought to occur in a sclerodermal distribution.	has_symptom
+99402706a6f2def2c772c99485041ea0d9d29fa1	Radionuclide bone scans demonstrated a moderately increased uptake of radiopharmaceutical localized to the "flowing" cortical @PHENOTYPICFEATURE$ of @DISEASE$ observed radiographically.	has_symptom
+ab752476204c294bb6048ca2feaad338f8576e5d	@DISEASE$ is a rare benign disease of cortical bone most frequently presenting as peripheral @PHENOTYPICFEATURE$ with a characteristic "melting wax" appearance on conventional radiographs.	has_symptom
+42d08f6c46cafcbd91f3f255e6fd812eb80e8112	@DISEASE$ is a rare form of cortical @PHENOTYPICFEATURE$ that resembles wax dripping down the side of a candle.	has_symptom
+bc04016ad7a437d5673c53e3ed237500efdc81b0	@DISEASE$ is a rare disorder characterized by a linear @PHENOTYPICFEATURE$ of cortical bone, joint pain, stiffness, deformity, and limited motion.	has_symptom
+28ba99a2c5a5a61dd4204e68c747e8b1ef5771c6	Melorheostosis is a rare disorder characterized by a linear @DISEASE$ of cortical bone, @PHENOTYPICFEATURE$, stiffness, deformity, and limited motion.	false
+a2a3a1ea5ca0e3fc6ad44ada48f01553770f63ae	@DISEASE$ is a rare disorder characterized by a linear hyperostosis of cortical bone, @PHENOTYPICFEATURE$, stiffness, deformity, and limited motion.	false
+841848a36bbd8e4d8f7ec459fd9e4738e159526f	@DISEASE$ is an uncommon and rare linear @PHENOTYPICFEATURE$, which can be complicated by soft tissue changes.	has_symptom
+01b679ebf91e47a086e74a39876204067e348806	The burden associated with the rising prevalence of @DISEASE$ and @PHENOTYPICFEATURE$, and the associated vision impairment and sight-threatening complications, has triggered the need to evaluate strategies to control the progression of myopia.	has_symptom
+fdbfe307a1bdd8e9015ac840d3367f51be1aade0	The burden associated with the rising prevalence of myopia and @PHENOTYPICFEATURE$, and the associated vision impairment and sight-threatening complications, has triggered the need to evaluate strategies to control the progression of @DISEASE$.	has_symptom
+87415d5e4a7275a60f5fa3ba656de88644881a9c	The results show that the mechanical implantation of a MyoRing is effective for the correction of @DISEASE$ in patients with keratoconus and @PHENOTYPICFEATURE$.	has_symptom
+2985cbb555805d6c1ac5305cf06d0360cdb012af	The results show that the mechanical implantation of a MyoRing is effective for the correction of myopia in patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+592e1f54743fb02aaae0264e3a3dd4c979d81af0	The results show that the mechanical implantation of a MyoRing is effective for the correction of @DISEASE$ in patients with @PHENOTYPICFEATURE$ and high myopia.	false
+0464242ffc717fd9d2f891b866adbd93ddcd032d	Limb lengthening surgery in patients with multiple malformation complex as in @DISEASE$ is associated with high recurrence risk because of; @PHENOTYPICFEATURE$, overtubulation of the long bones, and the poor bone regenerative quality.	has_symptom
+b0346c7d6e6058f670e7773a69c721a2f401caf7	@DISEASE$ is characterized by early gross motor delay, hypotonia, @PHENOTYPICFEATURE$, mild dysarthria and dysmetria.	has_symptom
+d0bbff549558b30fd3ca8fccfd5fca315ed8381d	A variant of @DISEASE$: a Japanese boy with profound deafness, @PHENOTYPICFEATURE$, mental retardation, and brachycephaly without craniosynostosis.	has_symptom
+dc19cb3b895e110cb0e0d492d6caebdcdcd0a063	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, @PHENOTYPICFEATURE$, and brachycephaly without @DISEASE$.	false
+92d2cebfe2d58395f2942e3ffa7067bc1fe57b3a	A variant of @DISEASE$: a Japanese boy with profound @PHENOTYPICFEATURE$, cataracts, mental retardation, and brachycephaly without craniosynostosis.	false
+8891532ee1bbfdbce78bd2d9b344ea8bfb3b79b7	A variant of @DISEASE$: a Japanese boy with profound deafness, cataracts, @PHENOTYPICFEATURE$, and brachycephaly without craniosynostosis.	false
+7b469cd6e38b0d2500ce3953d73f606e1d1ec4cc	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, @DISEASE$, @PHENOTYPICFEATURE$, and brachycephaly without craniosynostosis.	false
+f8d29430dd7d833035aa702ea695e9f9baff18cc	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and brachycephaly without craniosynostosis.	false
+c689e47c5da7c4d38103737ba0b73c330fce5f9e	A variant of Fine-Lubinsky syndrome: a Japanese boy with profound @PHENOTYPICFEATURE$, cataracts, mental retardation, and brachycephaly without @DISEASE$.	false
+b47435d8480ad40c8632f3393560a9efa0251913	@DISEASE$: a fourth patient with brachycephaly, deafness, @PHENOTYPICFEATURE$, microstomia and mental retardation.	has_symptom
+b8fe6b017a9fee0b48c6e4d1a3964c8c837ac921	@DISEASE$: a fourth patient with brachycephaly, deafness, cataract, microstomia and @PHENOTYPICFEATURE$.	false
+eb9beb98a23a659b47d8b06cb30ffdee4fec6c8f	Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, @DISEASE$, microstomia and @PHENOTYPICFEATURE$.	false
+a6120fac3d659f59b681796a839859a82f173528	@DISEASE$: a fourth patient with brachycephaly, @PHENOTYPICFEATURE$, cataract, microstomia and mental retardation.	false
+f73834e5d1c2a0d1589bd4007857a2efa25b6e17	Fine-Lubinsky syndrome: a fourth patient with brachycephaly, @PHENOTYPICFEATURE$, @DISEASE$, microstomia and mental retardation.	false
+a67bc9f6998059349b28cf0a0e193fc51c8d8dc7	@PHENOTYPICFEATURE$ and dermatoglyphics in a family with the @DISEASE$.	has_symptom
+0d74995654b3cde7f01238f421e2ccbdf78ff7e5	@DISEASE$ I syndrome and @PHENOTYPICFEATURE$.	has_symptom
+b7b017e1240fd3e3c7b02d18a4ad81073d9b7c6a	We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with @DISEASE$ phenotype associated with a broad neurological involvement characterized by microcephaly, @PHENOTYPICFEATURE$, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events.	has_symptom
+1e0f91a8c6fd6fcf00cf63b652572225ac1305e1	We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events.	false
+eb90e3da205e4ec99a9c9374c39a8b97b4f80fe1	We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with @DISEASE$ phenotype associated with a broad neurological involvement characterized by @PHENOTYPICFEATURE$, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events.	false
+bb7f2109b35feea40bb8b054a03179f76ec84559	@DISEASE$ (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb @PHENOTYPICFEATURE$.	has_symptom
+00c1699aee43cc16e1a3bf2899cc54dd024c01b0	Mutations in the SACS gene have been initially reported in a rare @DISEASE$ syndrome featuring prominent cerebellar atrophy, @PHENOTYPICFEATURE$ and peripheral neuropathy as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS).	has_symptom
+31e5dab705a0d991f5c07fcd03584f4d8fdf2f9d	Mutations in the SACS gene have been initially reported in a rare @DISEASE$ syndrome featuring prominent cerebellar atrophy, spasticity and @PHENOTYPICFEATURE$ as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS).	false
+27061087da36f11458fc2db4d913c244d6c3193e	Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, spasticity and @PHENOTYPICFEATURE$ as well as retinal abnormalities in some cases (@DISEASE$ of Charlevoix-Saguenay, ARSACS).	false
+44a6388cf92ac52d91004bf019d8a702fbb09073	Mutations in the SACS gene have been initially reported in a rare autosomal recessive cerebellar ataxia syndrome featuring prominent cerebellar atrophy, @DISEASE$ and @PHENOTYPICFEATURE$ as well as retinal abnormalities in some cases (autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS).	false
+93816ed8c1b7d833b67dc893304c2192b20c2984	Mutations in GBA2 cause @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+b784ecc4bdeab9369033762e5d84d7012f62bc08	@DISEASE$ (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or @PHENOTYPICFEATURE$ and hand and/or foot malformation.	has_symptom
+537bee5aa12aa41e4ac6d84a055a6212738435ad	Severe @PHENOTYPICFEATURE$ and early mortality in a double-mutation mouse model of @DISEASE$.	has_symptom
+44ab4fc44dabf67baf3057305ec7e2fcc9c0864b	In @DISEASE$, a genetic disease characterized by left ventricular hypertrophy and myofiber disarray, left ventricular diastolic dysfunction is common and contributes to @PHENOTYPICFEATURE$.	has_symptom
+dffebc0f6edd07ee454d70da398d154a557120de	A three-generation Chinese @DISEASE$ (FHC) family (family HLI) with two cases of end-stage @PHENOTYPICFEATURE$ and three cases of sudden death was analyzed.	has_symptom
+888ec30109bc17ea551987c711fb6bb4867a8c3a	@DISEASE$ (FHCM) is an autosomal dominant disease with protean clinical manifestations, ranging from asymptomatic to that of severe @PHENOTYPICFEATURE$ or sudden death.	has_symptom
+bdfbfc7b7883a9e510e12be8b3ed2c558aa55cef	@DISEASE$ (HCM) is a disease of the sarcomere and may lead to hypertrophic, dilated, restrictive, and/or arrhythmogenic cardiomyopathy, @PHENOTYPICFEATURE$, or sudden cardiac death.	has_symptom
+f07ae0879590d306bbaa4ed7eae22d4ef703c19d	Malignant @DISEASE$ in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage @PHENOTYPICFEATURE$.	has_symptom
+d98284db905cf5a6484e2866bf9e966bfaeae766	1. @DISEASE$ (FHC) is a primary disorder of the myocardium characterized by remarkable diversity in clinical presentations, ranging from no symptoms to severe @PHENOTYPICFEATURE$ and sudden cardiac death.	has_symptom
+ed478f1fbda9233ad628edb943c1e4227d8addff	Coexistence of sudden cardiac death and end-stage @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7a40dc97fb6791f706246409151265f19d8520bb	The effect of ramipril on left ventricular mass, myocardial fibrosis, diastolic function, and plasma neurohormones in Maine Coon cats with @DISEASE$ without @PHENOTYPICFEATURE$.	has_symptom
+4b2e7f4f43d8555c119ccfc6e3233338211fb5fd	We therefore tested the efficacy of PLN ablation to correct hypertrophy and contractile dysfunction in two well-characterized and highly relevant genetic mouse models of hypertrophy and @PHENOTYPICFEATURE$, Galphaq overexpression and human @DISEASE$ mutant myosin binding protein C (MyBP-C(MUT)) expression.	has_symptom
+ba64f0c8161eaff67067b1cdf5e0a3285aded40e	Parents of children with Angelman syndrome consistently reported the highest levels of psychological distress, and parents of children with @DISEASE$ the lowest, with parents of children with Cri du Chat syndrome and @PHENOTYPICFEATURE$ scoring between these two.	has_symptom
+7d894930c8e7e9167e0e23a68bd6b3fe303082bb	Parents of children with Angelman syndrome (n =15), @DISEASE$ (n = 16) and Cri du Chat syndrome (n = 18), and a matched comparison group of parents of children with @PHENOTYPICFEATURE$ and intellectual disabilities (n = 20) completed questionnaires on both psychological distress (stress, anxiety, depression) and positive psychological functioning.	has_symptom
+271e0840b81363d960942b682d8fdfa13226fe5f	@PHENOTYPICFEATURE$ traits in children and adolescents with @DISEASE$.	has_symptom
+23f24ee3ea829d41ea8d04bfb1bf8661329c5a09	A case series ensues, describing the successful application of the neurobehavioral model to the severe problem behaviors demonstrated by three individuals with intellectual disability related to @PHENOTYPICFEATURE$, @DISEASE$ and traumatic brain injury.	has_symptom
+dbb96772ab85d26726ac8191eee2214cf39e232b	Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and @PHENOTYPICFEATURE$ was 78.6%, and 45.6%, respectively, in @DISEASE$ and 83.6% and 48.6% in Fragile X syndrome.	has_symptom
+a10c7b8eb75f7fc3bce4093d8b9ed631ed2f05d2	They were organized by dividing them into three groups according to the biological characteristics recognized to date: a) BP associated to genetic diseases with an identified biological basis (syndromes such as Lesch Nyhan, Rett, fragile X, tuberous sclerosis complex, Noonan, Sotos, Aicardi, Angelman, Prader Willi, Williams, Down, Smith Magenis, Di George, Pallister Killian and Turner, among others; b) BP associated to a genetic disease with an unidentified biological basis (@DISEASE$); and, c) BP with an as yet unidentified biological basis associated to diverse causations (@PHENOTYPICFEATURE$).	has_symptom
+4dc5552732c333448a363e529d931d16ecb09376	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	has_symptom
+704609e590576e417ec5ffc251d31f209f51a965	@DISEASE$ (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	has_symptom
+2e1588c501d4e18da9109439b2bca3763b6d08ae	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+236539e3c602121a8fa959fbcbe72c879c63596e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+e85f8b55c4f8d64ed205154f7c4cf5e8664fe43f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+2700eed238ce3056108fb9522ce4681290d484b1	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypodontia.	false
+2c644e5387a1fe63b22e003c4f7bc1e6b5b5d0b8	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+70e1bee4c188d073dd77845c617ecfc89460cbf1	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @DISEASE$, hypohidrosis and @PHENOTYPICFEATURE$.	false
+f6f7585704155276ac301fdd3caa794c21c2f9a1	@DISEASE$ is a rare disease combining hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis.	has_symptom
+dd7edb05805157c76360d1fc19cc13d3db837198	Anhidrotic ectodermal dysplasia is a rare disease combining @PHENOTYPICFEATURE$, @DISEASE$, and hypohidrosis.	false
+e3c24c6a57614095c7e343d315b3283a0db1215c	Anhidrotic ectodermal dysplasia is a rare disease combining @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$.	false
+92f995a07ebb1915f7629857134508a1ef75d900	@DISEASE$ is a rare disease combining @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis.	false
+6509390d3881a6693b35133713a7b4fb56f6198f	@DISEASE$ (HED) is characterized by @PHENOTYPICFEATURE$, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis.	has_symptom
+aa50e6a1670356189eabb2b75e39e73335f07cf7	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, hypodontia, onychodysplasia and, as the most striking feature, hypohidrosis.	has_symptom
+252b8fead126217d5ec6085ddf95a317cdb15dc2	Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis, @PHENOTYPICFEATURE$, onychodysplasia and, as the most striking feature, @DISEASE$.	false
+31232c4e554e3187e7be5ce0f6f7ccdceea25d5a	Hypohidrotic ectodermal dysplasia (HED) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, onychodysplasia and, as the most striking feature, hypohidrosis.	false
+7644d280711c960a3a4258cbc9dd4e23a4955af1	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by hypotrichosis, @PHENOTYPICFEATURE$, onychodysplasia and, as the most striking feature, hypohidrosis.	false
+c16507218cd853283f5c3e42108cd5fa63f9139d	@DISEASE$ (HED) is characterized by hypotrichosis, @PHENOTYPICFEATURE$, onychodysplasia and, as the most striking feature, hypohidrosis.	false
+c4dbbdfc00f9837fd2fb314b1320911396742fee	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by clinical manifestations of severe hypodontia or anodontia, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	has_symptom
+5118ca3066412902297689403ccf842c410a7566	@DISEASE$ (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	has_symptom
+456989e34f1693eeeb78b4315b0b6235e50f7126	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, @DISEASE$, @PHENOTYPICFEATURE$, and specific facial appearance.	false
+f0ea4f985fc0dd1acf08de6c53fa2889cbbe24d7	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or @DISEASE$, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	false
+8841867a81bcaf3cb98f56ef41add0938797ae15	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe @DISEASE$ or anodontia, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	false
+54afebdd48a2125142be10a977656643525d4bcd	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	false
+15f608e025aa8cd72207cdae9ff2c766c3223344	@DISEASE$ (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	false
+59de9abd7bddc53f41a6d7aea2ee3fdd0451b0d6	@DISEASE$ (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and @PHENOTYPICFEATURE$.	has_symptom
+afe4bc402d08cdf37a6ff1bb35eb1d75a1cd3cf5	Hypohidrotic ectodermal dysplasia (EDA), or @DISEASE$, is clinically characterized by hypohidrosis, hypoodontia and @PHENOTYPICFEATURE$.	has_symptom
+17990e321a4d96bd92dcd84121ed482d4a9a5d96	@DISEASE$ (HED) is a syndrome characterized by hypodontia, @PHENOTYPICFEATURE$, and partial or total ecrine sweat gland deficiency.	has_symptom
+42265bbd736b35dab373c3174935de6e04ef88df	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a syndrome characterized by hypodontia, @PHENOTYPICFEATURE$, and partial or total ecrine sweat gland deficiency.	has_symptom
+11b824fa451272a2778c98c0120aaff9feec5e87	Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, and partial or total ecrine sweat gland deficiency.	false
+4cd78b4eee9e727a0fe1e7ada1766bf089d866bb	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a syndrome characterized by @PHENOTYPICFEATURE$, hypotrichosis, and partial or total ecrine sweat gland deficiency.	false
+b7be198cdeec465a8f6bdfd95721b159c15065d4	@DISEASE$ (HED) is a syndrome characterized by @PHENOTYPICFEATURE$, hypotrichosis, and partial or total ecrine sweat gland deficiency.	false
+f6f7585704155276ac301fdd3caa794c21c2f9a1	@DISEASE$ is a rare disease combining hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis.	has_symptom
+dd7edb05805157c76360d1fc19cc13d3db837198	Anhidrotic ectodermal dysplasia is a rare disease combining @PHENOTYPICFEATURE$, @DISEASE$, and hypohidrosis.	false
+e3c24c6a57614095c7e343d315b3283a0db1215c	Anhidrotic ectodermal dysplasia is a rare disease combining @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$.	false
+92f995a07ebb1915f7629857134508a1ef75d900	@DISEASE$ is a rare disease combining @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis.	false
+e195b9ea0659ff204833a66db0f4795b13a057cb	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and hypodontia.	has_symptom
+c6a6ef763c0171d29c8421b837df8bb3e3057f26	@DISEASE$ (HED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and hypodontia.	has_symptom
+6cc8f2d2052ec7cffb2238d0c9a6c527d3dbf916	@DISEASE$ (HED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and hypodontia.	false
+3bc08b4a13f475c67f37c05ecb594c342d44d2c2	Hypohidrotic ectodermal dysplasia (HED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$.	false
+b0e14e6a3dd42122af71d5ed5a584a67a5134340	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and hypodontia.	false
+0d73f3f8feec609e42522378ecf31786d700d8a0	Hypohidrotic ectodermal dysplasia (HED) is characterized by severe @PHENOTYPICFEATURE$, @DISEASE$, and hypodontia.	false
+225fc6d0cba9bc35b433463bc8e9c9d87b4fa588	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	has_symptom
+86e86dfef81c37e3268046d9cc3d491060e49e45	@DISEASE$ (HED) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	has_symptom
+40dc926c397c0abbb637159512cee89f7975ddec	@DISEASE$ (HED) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+51c0e570e992f42f51f7844130b199829d09692d	Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by @DISEASE$, hypodontia and @PHENOTYPICFEATURE$.	false
+3dde54ed1847eaab22326a879657b7eb77a9f1fd	@DISEASE$ (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	false
+b99d29e688c1d50271aa7f0ed600cefc1a6be4e1	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+2de0e6eb6678fa7840992b2321e10e6684776384	Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+543a85f6715c64ce2911a0fbece5d9a2b9f8b71a	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	false
+cd38d93bf644d36081f9dd8b5c222b14e4aa9f8b	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+118b4a4a3c148463ffc5fa130e94cec4d7515ba7	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	false
+4dc5552732c333448a363e529d931d16ecb09376	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	has_symptom
+704609e590576e417ec5ffc251d31f209f51a965	@DISEASE$ (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	has_symptom
+2e1588c501d4e18da9109439b2bca3763b6d08ae	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+236539e3c602121a8fa959fbcbe72c879c63596e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	false
+e85f8b55c4f8d64ed205154f7c4cf5e8664fe43f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+2700eed238ce3056108fb9522ce4681290d484b1	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hypodontia.	false
+2c644e5387a1fe63b22e003c4f7bc1e6b5b5d0b8	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+70e1bee4c188d073dd77845c617ecfc89460cbf1	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @DISEASE$, hypohidrosis and @PHENOTYPICFEATURE$.	false
+b38ec695352b1de68b7fc2dba1d7ef6c8a69ce68	In classical @DISEASE$ additional care is mostly indicated by @PHENOTYPICFEATURE$ and speech and voice functions.	has_symptom
+549822627e3854a7276e69d68b2c5409c663cafd	Despite treatment with a galactose-restricted diet, many @DISEASE$ patients develop lifelong cognitive impairment, speech abnormalities and a gamut of neurological problems including @PHENOTYPICFEATURE$ and tremors.	has_symptom
+386e7f0dae4b54bc67a50c0b35be63f293af9e2d	Despite treatment with a galactose-restricted diet, many @DISEASE$ patients develop lifelong @PHENOTYPICFEATURE$, speech abnormalities and a gamut of neurological problems including cognitive impairment and tremors.	has_symptom
+d127f0b679a7cedf2da5aa550675ee64ca5bacac	Congenital anomalies not previously described in association with @DISEASE$ included facial capillary haemangiomata, intracranial vascular malformation, @PHENOTYPICFEATURE$, and scoliosis.	has_symptom
+7b16b89facec8fc98a0efc7716026c68e7c4793b	The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of @DISEASE$ to include @PHENOTYPICFEATURE$ or myoclonic-like seizures (starting even in the first years of life) and renal abnormalities in affected males.	has_symptom
+07e535d2edfa6044dfa9cce910f649a9ca24dcb6	The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of @DISEASE$ to include myoclonic or @PHENOTYPICFEATURE$-like seizures (starting even in the first years of life) and renal abnormalities in affected males.	has_symptom
+3507ed445555a29867c3e2609fea6c9b281bfbc9	The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of @DISEASE$ to include myoclonic or myoclonic-like @PHENOTYPICFEATURE$ (starting even in the first years of life) and renal abnormalities in affected males.	false
+900c03c4aea8792264b3800a117a35815df05c9a	The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of Snyder-Robinson syndrome to include myoclonic or @DISEASE$-like @PHENOTYPICFEATURE$ (starting even in the first years of life) and renal abnormalities in affected males.	false
+c2f161fb778fa80ec8b2548f75c679a1a2696b62	The clinical and molecular evaluation of this family and the review of the literature expand the phenotype of Snyder-Robinson syndrome to include @DISEASE$ or myoclonic-like @PHENOTYPICFEATURE$ (starting even in the first years of life) and renal abnormalities in affected males.	false
+106bb159f3d00f21a21808c1534c6a1f988039ae	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	has_symptom
+f6a914d8d1b7b4fa603aaaad3c29353cc66cdf85	Juvenile neuronal ceroid lipofuscinosis or Batten disease (JNCL) is a neurodegenerative disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cognitive decline and early death.	false
+f92c985bd1b186ee7c43ff19783958a965458ae7	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	false
+77db78acf4c3553cd860169c444228f4716d1946	Juvenile neuronal ceroid lipofuscinosis or @DISEASE$ (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	false
+db4ba077944788a3596ce46e7ba8206f4e7fd983	A 68-year-old man with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and chills.	has_symptom
+f5df970737200bbacc2ea36a125f19ebc6bde8d7	[Weight loss, @PHENOTYPICFEATURE$ and arthralgia in a 43-year-old man treated for @DISEASE$].	has_symptom
+c01cae0d3e0082332ee096d40451efbe2baa6083	A 53-year-old man, who had received salvage chemotherapy for @DISEASE$, complained of @PHENOTYPICFEATURE$ and dry cough.	has_symptom
+d19c5d1c61b99ca8c710a2339a44f9feec53cbc4	To highlight the diagnostic challenges and neuropathological findings in a fatal case of Powassan encephalitis caused by deer tick virus (lineage II) in a patient with @DISEASE$ receiving rituximab, with nonspecific anti-GAD65 antibodies, who was initially seen with @PHENOTYPICFEATURE$ and orchiepididymitis.	has_symptom
+fb12ce1d9cc6afddf78be763d748f08771e1586f	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+172a895dbb786a318e9bef1900d4916d9eb2e0e1	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+421726f18ee377b0a49f8dc55212800584424963	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @DISEASE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+9df7287ae183c197906a4797f6fa011f5fb06450	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+2237e6ade43aed228693c19a7b2f84de184307ad	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+e2675279a966808b9cd18d9cfb31315f6db1f1c6	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+995cc5520bb0bf0371cba96c472f6284f9543146	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+1fc1923ac0863c84d5e8abe9304e66e7de16492c	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+177bc72a1ebf6cd77632a6e06cb969f00bb665dc	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+93cfcb7c838282ebfcd74d43c55f475053e7dcb3	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+d861164e9eb6727caf491ff5f6f2a2cc837925f9	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+27e7e01b91288f4dadc6d78affbc2faf82e09f8f	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, @DISEASE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+649f63343d5217550088d6ed3d3d1f429ccfdde0	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+0bee010d561fd8a4d6b18b430b30a2292efd429b	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+27d2e59bc916f6b31400c5e82a3a869d3492c963	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8de163fcb5c487861ebe5c1c2e7600a91e0f94f3	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+b2450e628c09c48248654c6ef969df08a86acb50	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+da806bcf36c56e7406f3aaca2765f501fcae8270	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+2ece97a8532cb94a23a583b6845d4f0d6c66231b	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+cfb8604b09e683c6c589b9cefdb42324061ea4ef	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+6c65863be308f152aa408f86f721790c18d6d7a3	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, @DISEASE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8c557e81cbc565064b503348fe9037ff48c850e4	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+4e03d1c2f40f1a557fccfb2365e40ceb458d9de4	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @DISEASE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f11eebb567e1eceee03c10a72d863f5ad1864e5a	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+32dbaa4e7868da7ea8f51d977fb2a50d2ba79de2	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+eca7f85c68de936dd3b276e7a0e44e4fca0053d2	This case is a unique deletion that mimicked Fanconi anemia (combination of thrombocytopenia, thumb anomalies, @PHENOTYPICFEATURE$, borderline small head circumference, strabismus, hydronephrosis, and significant developmental delay) but testing for @DISEASE$ was negative, as was testing for a wide array of genetic/metabolic conditions.	has_symptom
+43c9765f2b9cdeb9d681c6874cce4214a2a965ca	This case is a unique deletion that mimicked @DISEASE$ (combination of thrombocytopenia, thumb anomalies, @PHENOTYPICFEATURE$, borderline small head circumference, strabismus, hydronephrosis, and significant developmental delay) but testing for Fanconi anemia was negative, as was testing for a wide array of genetic/metabolic conditions.	has_symptom
+a6dfd677aaae20d55ba58ffdd28e48c1f7257efd	A seven-year-old girl with @DISEASE$-like congenital aplastic anemia and concurrent asplenia without the @PHENOTYPICFEATURE$ or the abdominal heterotaxia is reported.	has_symptom
+6d283378c78856e58ee1d74bfc67f6fe36adf706	The patient presented with the typical features of @DISEASE$: fractures after minor trauma, early tooth loss, @PHENOTYPICFEATURE$, hepatosplenomegaly, and a generalized increase in bone mineral density (BMD).	has_symptom
+dda201d8963656893f3230b0a9b017d298220f43	99mTc-HSA millimicrospheres were used to detect a site of extra medullary hematopoiesis in the chest of a patient with severe @DISEASE$, @PHENOTYPICFEATURE$, thrombocytopenia and splenomegaly causing renal complications.	has_symptom
+e5e5747b8941aab6da6b9098233a82b941759da5	@DISEASE$ should be considered in patients presenting with local pain, @PHENOTYPICFEATURE$, muscle tenderness, and a recent history of vigorous exercise or underlying skin condition.	has_symptom
+d96afc65b50ab3974f603956f97f28b9c2744942	@DISEASE$ should be considered in the differential diagnosis in patients with @PHENOTYPICFEATURE$ and localised myalgia.	has_symptom
+8a064659e7762685d4371b92a54e5f5f5dcc5b14	@DISEASE$ should be suspected in any patient who presents with @PHENOTYPICFEATURE$, muscle pain and leukocytosis.	has_symptom
+f07177292a01ed8168c0c61b21f8f4f0a8e4e9c9	We report a 12-year-old male with @DISEASE$ caused by Streptococcus pneumoniae who presented with @PHENOTYPICFEATURE$ and severe right hip and abdominal pain.	has_symptom
+5958866d374fd6a96730fe7c06e7fb6739a5cc14	We report a 12-year-old male with @DISEASE$ caused by Streptococcus pneumoniae who presented with fever and severe right hip and @PHENOTYPICFEATURE$.	false
+d1b9fa6615f9270f09fadc5b27cdfe9ea0d764af	We report a 12-year-old male with pyomyositis caused by Streptococcus pneumoniae who presented with @DISEASE$ and severe right hip and @PHENOTYPICFEATURE$.	false
+a7c5109a23d6dc2786b1b450953e831a6adaa426	@DISEASE$ is rare in healthy individuals and requires a high clinical suspicion in patients who present with @PHENOTYPICFEATURE$, leukocytosis, and localized pain.	has_symptom
+390b21eb2168a16b82668682975854d64c560e62	@DISEASE$ is a purulent infection of skeletal muscle characterized by @PHENOTYPICFEATURE$, localized muscle pain and stiffness, swelling and tenderness.	has_symptom
+aa054b388455bdaf73f073486119cfa70285f2b2	@DISEASE$ (PM) is an infectious disease of the skeletal muscle with a wide range of symptoms such as pain, @PHENOTYPICFEATURE$ or swelling, and is predominantly found in the tropics.	has_symptom
+76a9141f9546ff83ae25ddedc1c46f374db73d75	Paraspinal @DISEASE$ as well as lesions inside the spinal canal should therefore be considered in the differential diagnosis of patients presenting with @PHENOTYPICFEATURE$, back pain, and radiculopathy.	has_symptom
+e81c4ded67d2ccdb18175b355b7954c2e1a07c7e	Bacterial @DISEASE$ should be considered in the differential diagnosis of @PHENOTYPICFEATURE$ and myalgias in the immunocompromised patient.	has_symptom
+da60b86535ce03b1a8fa858d4fbed32c682c5c1c	The absence of @PHENOTYPICFEATURE$ and leukocytosis, combined with the presence of bilaterally distributed lesions in multiple and often noncontiguous muscles in the legs, including the thighs, is suggestive of ischemia; by contrast, the presence of well-defined intramuscular abscesses with rimlike enhancement favors a diagnosis of infectious @DISEASE$.	has_symptom
+7700c4ffd96b1c32a3c271c952738d705a5f7fc9	Human myosin VIIA (HM7A) is responsible for human @DISEASE$B, which causes hearing and @PHENOTYPICFEATURE$ in humans.	has_symptom
+a239827820b2bc461f6ce8cf8dcb6d301f8e8e76	Myosin VIIA is an unconventional myosin, responsible for human @DISEASE$B, which causes hearing and @PHENOTYPICFEATURE$.	has_symptom
+ebe85e4069fad8a337b1d874fac4c81604608345	Myosin VIIA, thought to be involved in human auditory function, is a gene responsible for human @DISEASE$B, which causes hearing and @PHENOTYPICFEATURE$.	has_symptom
+dbc0514a1eb39c1806e76a6dc667866981e96a4b	DCAF17 mutations are associated with @DISEASE$, a rare disorder characterized by alopecia, @PHENOTYPICFEATURE$, sensorineural hearing loss, diabetes mellitus, and extrapyramidal movements.	has_symptom
+a0876fc828a0e467ecd469583c0085c439e5b3e1	DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, hypogonadotropic hypogonadism, @PHENOTYPICFEATURE$, @DISEASE$, and extrapyramidal movements.	false
+8de0ae6c0446a1cc6abe1a7d9b279cfa5248e7d2	DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, @DISEASE$, @PHENOTYPICFEATURE$, diabetes mellitus, and extrapyramidal movements.	false
+13fc6d092db3c144c7ab8d7649a8afba0fb39f64	DCAF17 mutations are associated with @DISEASE$, a rare disorder characterized by alopecia, hypogonadotropic hypogonadism, @PHENOTYPICFEATURE$, diabetes mellitus, and extrapyramidal movements.	false
+9d2ce00ffe587e27cc85117ec7cc1e94ebed750a	Using a murine model of @DISEASE$ (CML) induced by bone marrow transplantation of BCR-ABL-expressing hematopoietic stem cells, mice supplemented with EPA showed a decrease in the LSC population, and reduced @PHENOTYPICFEATURE$ and leukocytosis, when compared with mice on an oleic acid diet.	has_symptom
+85f0a63fc8e0afdaa6881f5c2cd0d19c7fb5b987	Using a murine model of @DISEASE$ (CML) induced by bone marrow transplantation of BCR-ABL-expressing hematopoietic stem cells, mice supplemented with EPA showed a decrease in the LSC population, and reduced splenomegaly and @PHENOTYPICFEATURE$, when compared with mice on an oleic acid diet.	false
+adb0e8782b56691657a7e4a91b90243d8cf20b04	Using a murine model of chronic myelogenous leukemia (CML) induced by bone marrow transplantation of BCR-ABL-expressing hematopoietic stem cells, mice supplemented with EPA showed a decrease in the LSC population, and reduced @DISEASE$ and @PHENOTYPICFEATURE$, when compared with mice on an oleic acid diet.	false
+de1f6c42a9a5fbf715a126c6879570b190470db6	BACKGROUND: This study was conducted to determine whether patients with @DISEASE$ had significant dental pathology because of @PHENOTYPICFEATURE$, pancytopenia, and coagulation abnormalities.	has_symptom
+e1ca5f28a7a010d7cf2ec1cd313268531dfdc6f2	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @PHENOTYPICFEATURE$, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	has_symptom
+18f6504afcefbebf6b6daff73285378f3cb86adb	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @DISEASE$, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+16e6f3a0eaba313635952b8c869c7da7aa52f687	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @DISEASE$, @PHENOTYPICFEATURE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+7615e6eaae4650cc06c76b899c50a5f45a688b2e	The additional phenotypic manifestations in this family-proportionate short stature, @PHENOTYPICFEATURE$, pulmonary valvular stenosis, thoracic scoliosis, @DISEASE$, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+b2f48ae915197ae83d3255a6ee95a07b9704906d	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+83b13439403720dc05dd47e0130ed89a2b008d49	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and @PHENOTYPICFEATURE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+3adf39b0fb68bcbcfb3c1b96d3fa3eed6b2989b7	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @PHENOTYPICFEATURE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+04796464d4d26dd3734de97db0dab5e9df0a1822	The additional phenotypic manifestations in this family-proportionate short stature, @PHENOTYPICFEATURE$, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+32e5dadf01e7dc3ac2005a729d80e3451385c22d	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @DISEASE$, pectus deformities and @PHENOTYPICFEATURE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+d3a6085b119d5221516656e6dd3329b5ee172e00	@PHENOTYPICFEATURE$ is a frequent and important nonmotor feature of @DISEASE$ (PD).	has_symptom
+a520d648ddc64ac637b74b48aeef4e0e800905f9	Reduced hypoxic sympathetic response in mild @DISEASE$: further evidence of early @PHENOTYPICFEATURE$.	has_symptom
+9263cb46bb943f2ceaa708ce0ff71577cbe53927	@PHENOTYPICFEATURE$, neuropsychiatric problems, axial signs and sleep disorders are common complications of advanced @DISEASE$ (PD).	has_symptom
+c32ce8f0d5f10ec4a9fef3880b1fcb777ed4f8ea	Cardiovascular @PHENOTYPICFEATURE$ in @DISEASE$: from pathophysiology to pathogenesis.	has_symptom
+ba50b15017b0a2554f8950e309b05820abec8d98	@PHENOTYPICFEATURE$ in @DISEASE$ and animal models.	has_symptom
+919b59122e08dc42f447a87892ba32c78a12d740	@PHENOTYPICFEATURE$ is common in patients with @DISEASE$ (PD).	has_symptom
+c22e78243854c301edb69ecb5ac840a1e2aba37c	@PHENOTYPICFEATURE$ in pathologically confirmed multiple system atrophy and idiopathic @DISEASE$--a retrospective comparison.	has_symptom
+45060d0cd92dd8da7f3aa4fa703a72964cd34b77	Medulla oblongata damage and cardiac @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c8d8ad6628bb9486bb7c6d5127dcef5d02c5b804	Cardiovascular @PHENOTYPICFEATURE$ is a common non-motor symptom associated with synucleinopathies such as @DISEASE$ (PD).	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+06c2298a8a9b7255432d779385f9e8cbd9db5acd	Sporadic inclusion body myositis (sIBM) is a slowly progressive, red-rimmed @DISEASE$ leading to @PHENOTYPICFEATURE$ and progressive weakness; it predominantly affects males older than fifty years, and is resistant to immunotherapy.	has_symptom
+f92db8f2d2d20c7653e2d1a354a4aea1275bfb36	@DISEASE$: a heritable condition associated with @PHENOTYPICFEATURE$.	has_symptom
+898a83b824e79954be0a9ec0348ecee45d7bf2b7	Tetralogy of fallot in a patient with developmental @PHENOTYPICFEATURE$/@DISEASE$ (DCV/SMD-CF) expanding the variability.	has_symptom
+c33df03cd33874c0b8b886b25bc2bb43fc6690fa	Classically, @DISEASE$ is characterized by short stature, @PHENOTYPICFEATURE$ (in some individuals), dural calcification, and anterior bowing of the tibiae.	has_symptom
+d63d2bde98fa827b8060f501663a89f35e34013d	Classically, @DISEASE$ is characterized by @PHENOTYPICFEATURE$, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae.	false
+362f0c2e5eb0aa0f9eb3f3fca5d10d44df630607	Classically, Weismann-Netter-Stuhl syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$ (in some individuals), dural calcification, and anterior bowing of the tibiae.	false
+4824ce45aa85e6d3230be878b8fbb1c8e8e63abb	@DISEASE$ and @PHENOTYPICFEATURE$: a new patient and review of the literature.	has_symptom
+5169589eb1c7ef943f98c3c832f234497553bd91	A case of @DISEASE$ is reported in a 52-year-old white male who presented with @PHENOTYPICFEATURE$ and generalized lymphadenopathy.	has_symptom
+960cd991caf826f83a993b1f4dc5ec1838425aa9	This paper is a review of some aspects of acute pancreatitis (AP) (definition criteria, outcome, and prognostic factors) and a reminder of the invaluable contribution of computed tomography (CT) in confirming the diagnosis of AP, distinguishing between @PHENOTYPICFEATURE$ and necrotizing forms, and in providing prognostic information via detection of possible extrapancreatic spreads (@DISEASE$).	has_symptom
+92b5bab3484e7cf4a844863214f79ee6074f5906	The siblings share some features of @DISEASE$, including feeding difficulties, @PHENOTYPICFEATURE$, and speech delay.	has_symptom
+db521858c6286cb9a14546e02bdfa02bf1be1900	The siblings share some features of Ohdo syndrome, including feeding difficulties, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0cf6da5e37621d3eb25ece882a677a1eb810faf9	The siblings share some features of @DISEASE$, including feeding difficulties, microcephaly, and @PHENOTYPICFEATURE$.	false
+9f427c693748ab8c85e1b3bff0d667572bdbce9a	Three brothers with mental and physical retardation, @PHENOTYPICFEATURE$, microcephaly, internal malformations, speech disorder, and facial anomalies: @DISEASE$.	has_symptom
+f06da4fd0b610ee33af81a981c57324997e899da	Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, @PHENOTYPICFEATURE$, and @DISEASE$ anomalies: Mutchinick syndrome.	false
+c1f92524fca7588e5b3aa7f24960082339822314	Three brothers with mental and physical retardation, hydrocephalus, @PHENOTYPICFEATURE$, internal malformations, speech disorder, and facial anomalies: @DISEASE$.	false
+c38987707e6ff256577a2de3decf2f9b8dcad56b	Three brothers with mental and physical retardation, @DISEASE$, microcephaly, internal malformations, @PHENOTYPICFEATURE$, and facial anomalies: Mutchinick syndrome.	false
+a3bb100b3d1e58d7ba0d131171e21c5bfbf0b5a9	Three brothers with mental and physical retardation, @DISEASE$, @PHENOTYPICFEATURE$, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.	false
+c3dddbc3e9e3bcee95dbd44b24dd50a10441973f	Three brothers with mental and physical retardation, hydrocephalus, @PHENOTYPICFEATURE$, internal malformations, speech disorder, and @DISEASE$ anomalies: Mutchinick syndrome.	false
+e86cdfe100980bf01feee544468537dd3eaf5ff4	Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, @PHENOTYPICFEATURE$, and facial anomalies: @DISEASE$.	false
+51f284a722b0760b337ace58f0c405a802ba1b9f	@DISEASE$-related disorders are a group of recessively inherited conditions showing @PHENOTYPICFEATURE$ and the molar tooth sign of the midbrain-hindbrain junction.	has_symptom
+e9e5e60a3aabf9ba9924970812c4769c5e4e710c	@DISEASE$ (JS) is a rare autosomal recessive disorder with @PHENOTYPICFEATURE$ and complex brainstem malformation.	has_symptom
+9bb4a553051a6a434be55a6d4b61583844b79190	@PHENOTYPICFEATURE$ (CVH) is part of many different malformation syndromes, especially @DISEASE$.	has_symptom
+4ca8d2b40bf768060a8f110c408daa9197d09061	@DISEASE$ is distinguished by @PHENOTYPICFEATURE$, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern.	has_symptom
+35bccca32feeba6fd253a3d363fff14f4cff705b	@DISEASE$ is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by @PHENOTYPICFEATURE$, and impaired psychomotor development, together with abnormal respiratory pattern.	false
+89dfc1987962879fbb45f3a8701a1f6246c55e70	Joubert syndrome is distinguished by @DISEASE$, hypotonia, retinal dystrophy characterized by @PHENOTYPICFEATURE$, and impaired psychomotor development, together with abnormal respiratory pattern.	false
+55aeb3b4b1b8ba439e3fff7678e3893307e5b972	Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, @DISEASE$ characterized by @PHENOTYPICFEATURE$, and impaired psychomotor development, together with abnormal respiratory pattern.	false
+09c05d63a6c53990846ae7aa318431fe37e1dceb	The ciliopathy @DISEASE$ is marked by @PHENOTYPICFEATURE$, a phenotype for which the pathogenic mechanism is unclear.	has_symptom
+dff8aa6fcffd81e05c5ffe207f7d72d74ad46c9c	@DISEASE$ (JS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, apnea/hypernea and ophthalmologic abnormalities.	has_symptom
+201a3f4bcb847aba12ff213e1d9c26c88f4eeffe	@DISEASE$ (JBS) is a viable neurological disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting @PHENOTYPICFEATURE$/dysplasia.	has_symptom
+5939007c4f7d5b36b452c95f6a3eb92578c12be3	@DISEASE$ (JS) is a developmental brain disorder characterized by @PHENOTYPICFEATURE$, abnormal eye movement, ataxia and mental retardation.	has_symptom
+c9815cf505a1fbc3695d37dd9392aeaf954a348c	@DISEASE$ (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, ataxia and mental retardation.	false
+57b43bf3efa28c0ba0ca7d61d7786811fb01ba61	Joubert syndrome (JS) is a developmental brain disorder characterized by @DISEASE$, abnormal eye movement, ataxia and @PHENOTYPICFEATURE$.	false
+96f65ba4b419ec6172e8c0dcd487b32c66fad2e2	Joubert syndrome (JS) is a developmental brain disorder characterized by @DISEASE$, abnormal eye movement, @PHENOTYPICFEATURE$ and mental retardation.	false
+0768447b46cbd4545f765d181df701705181999c	@DISEASE$ (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement, ataxia and @PHENOTYPICFEATURE$.	false
+dac15ecd556fd4c1ac093cad868167a33e108366	Joubert syndrome (JS) is a developmental brain disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, ataxia and mental retardation.	false
+32650ce27fe9c1fcc4c424c13ff9fa25d2f1b767	@DISEASE$ (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement, @PHENOTYPICFEATURE$ and mental retardation.	false
+f724de8da51d054e2b6bf3fb8189b50286777cf7	@DISEASE$ is a ciliopathy defined by @PHENOTYPICFEATURE$, oculomotor apraxia, intermittent hyperventilation, and mental retardation.	has_symptom
+a4bdb273de64c6b4c1bde52bb00c3896f0aab66b	@DISEASE$ is a ciliopathy defined by cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, intermittent hyperventilation, and mental retardation.	false
+b4afd55bfb8cd28267ceb9ce5572b5d31e100602	@DISEASE$ is a ciliopathy defined by cerebellar vermis hypoplasia, oculomotor apraxia, intermittent hyperventilation, and @PHENOTYPICFEATURE$.	false
+5df584e0b91f3167e3e339337353d694d76ddb14	Joubert syndrome is a ciliopathy defined by @DISEASE$, oculomotor apraxia, intermittent hyperventilation, and @PHENOTYPICFEATURE$.	false
+9334bc3d18372c0ec8c00a66ab12dfe9a72ded14	Joubert syndrome is a ciliopathy defined by @DISEASE$, @PHENOTYPICFEATURE$, intermittent hyperventilation, and mental retardation.	false
+f138decbccc9081b2baf96410995fda5e76d6014	@DISEASE$ (JS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements.	has_symptom
+5847c6aecea3ef494bf1f3a1eea08ae0c55c8f02	Joubert syndrome (JS) is an autosomal recessive disorder characterized by @DISEASE$ associated with hypotonia, developmental delay, abnormal respiratory patterns, and @PHENOTYPICFEATURE$.	false
+372f018c10d2594ce3c77335ba2a43abba6a19cb	@DISEASE$ (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and @PHENOTYPICFEATURE$.	false
+43d9986232f63b58001e9411263127cdc9e37e95	@PHENOTYPICFEATURE$ lymphoma, or @DISEASE$, belongs to the group of non-Hodgkin B-cell lymphomas characterised by pleural, pericardial, or peritoneal lymphomatous effusions in the absence of a solid tumour mass.	has_symptom
+138e9470b5ea89d88ee011f668333f3867eff1e1	Pleural effusion lymphoma, or @DISEASE$, belongs to the group of non-Hodgkin B-cell lymphomas characterised by pleural, pericardial, or peritoneal lymphomatous effusions in the absence of a solid @PHENOTYPICFEATURE$ mass.	false
+d383af7d71563d45408df2ed76477279dd37d562	@DISEASE$ lymphoma, or body-cavity-based lymphoma, belongs to the group of non-Hodgkin B-cell lymphomas characterised by pleural, pericardial, or peritoneal lymphomatous effusions in the absence of a solid @PHENOTYPICFEATURE$ mass.	false
+0afcf093d03515f685386eb1f329e3eaac0fc3c8	Pleural effusion @DISEASE$, or body-cavity-based lymphoma, belongs to the group of non-Hodgkin B-cell lymphomas characterised by pleural, pericardial, or peritoneal lymphomatous effusions in the absence of a solid @PHENOTYPICFEATURE$ mass.	false
+2b3a5aebede4879e91ab5e80ce4d63243056c800	The cardinal features of @DISEASE$ (MIM 259050) are dysmorphic facial features, @PHENOTYPICFEATURE$, and intellectual disability, as well as large body size, height and weight, and calcified pinnae.	has_symptom
+960a5caf049542d430f5ee5590583d1cb7fb4de7	The cardinal features of @DISEASE$ (MIM 259050) are dysmorphic facial features, macrocephaly, and @PHENOTYPICFEATURE$, as well as large body size, height and weight, and calcified pinnae.	false
+671392fadfc5f8074968d03adf9bd23de1cb0ba7	The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic @DISEASE$ features, macrocephaly, and @PHENOTYPICFEATURE$, as well as large body size, height and weight, and calcified pinnae.	false
+4c18d85998d3f50eeacad2122e822d387b27516e	The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, @DISEASE$, and @PHENOTYPICFEATURE$, as well as large body size, height and weight, and calcified pinnae.	false
+3467b10efd860bd91d1ced8b90918e32eb682858	@DISEASE$ is characterized by unusual facial features, @PHENOTYPICFEATURE$, intellectual disability, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting.	has_symptom
+888272e86a1f287d8520d50c16b2e2aa01f405c3	Primrose syndrome is characterized by unusual facial features, @DISEASE$, @PHENOTYPICFEATURE$, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting.	false
+1ff30e88604f1eae31f8e2788c29ad073a9bb5e5	@DISEASE$ is characterized by unusual facial features, macrocephaly, @PHENOTYPICFEATURE$, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting.	false
+13cd061f79793d5eee3ef4895f70fe8a9706a8ce	Primrose syndrome is characterized by unusual facial features, macrocephaly, @PHENOTYPICFEATURE$, enlarged, and calcified external ears, sparse body hair, and distal @DISEASE$.	false
+f5a89332609a01deceeda326fe57df9bf91cd5c2	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, @PHENOTYPICFEATURE$, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	has_symptom
+f2a4a5a15b82f8de80478d45bc14106ad5a43aec	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, macrocephaly, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+c0db5a40e03a4090eab793bc432dcb85c8b11c8b	Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including @PHENOTYPICFEATURE$, @DISEASE$, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	false
+aa359b2669da4733ab76b8e0a5702f2535d44af3	Primrose syndrome (PRIMS), a rare @DISEASE$ with several clinical findings including @PHENOTYPICFEATURE$, macrocephaly, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	false
+7bbe1ed791981203f0103daa8385d90cd716d85a	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including @PHENOTYPICFEATURE$, macrocephaly, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	false
+d968a554fdfc422498b16d6bd845cbf1a70e88d3	Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, @DISEASE$, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+6c285b85cc6120e21988661ca00d95b5ae9d319a	Primrose syndrome (PRIMS), a rare @DISEASE$ with several clinical findings including intellectual disability, macrocephaly, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+3fe17d7d28a05bf46ade69bb09f6d494134c6c73	In addition to CCA, all cases presented with additional features of @DISEASE$ including facial dysmorphism and @PHENOTYPICFEATURE$ or megalencephaly.	has_symptom
+63d321a1666f6e1ed1885c5d78dc39c9b6af31e5	In addition to CCA, all cases presented with additional features of Primrose syndrome including @PHENOTYPICFEATURE$ and @DISEASE$ or megalencephaly.	false
+bf694715b2d16bdf3e8dfa949b9e36fccb21922c	In addition to CCA, all cases presented with additional features of @DISEASE$ including @PHENOTYPICFEATURE$ and macrocephaly or megalencephaly.	false
+0177490f02bd0108186270ce18b6874daded51ca	Reverse phenotyping showed that this patient presents with classic features of @DISEASE$ (dysmorphic facies, @PHENOTYPICFEATURE$, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism.	has_symptom
+314035471a3ab88576c3bb9ee995267eef10993d	@DISEASE$ (PS) is a rare disorder characterized by @PHENOTYPICFEATURE$, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood.	has_symptom
+f54bc5fe75c275adf53d31eaeac0b181c7dfbac5	Primrose syndrome (PS) is a rare disorder characterized by @DISEASE$, tall stature, @PHENOTYPICFEATURE$, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood.	false
+9bf2d36137fe75083c6a4ccaaf4bcfb289fad913	@DISEASE$ (PS) is a rare disorder characterized by macrocephaly, tall stature, @PHENOTYPICFEATURE$, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood.	false
+8c5c30b184a12449a7bf646a54174f8813cbfcf4	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic @DISEASE$ (IHH) associated with anosmia or @PHENOTYPICFEATURE$.	has_symptom
+b38ad529a512df2b0be491de12b9c75e31ae073e	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+be5617298f2ca01461a1af943798039f0fc1d440	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (@DISEASE$) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+5f5456ef6f5a3925c4774d9c9d168e43ec46c254	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic @DISEASE$ (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+854c06b4a8258d3e90ba0383347783040e9200b1	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental @DISEASE$ characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+fba646ad94fccc9d10bf25fdcc45826c99abbe7b	Several reports indicate that mutations in NSMF are related to @DISEASE$ (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+4145d0c6f897c3d6573c7cb858a091bdf7e026c2	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (@DISEASE$), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+9144d2c3cb3507d2c17d5a2c6f1ffde3065d20e9	@DISEASE$ associated with convulsions and @PHENOTYPICFEATURE$.	has_symptom
+1fdc4413c744caa4caf6db759a692e32082ab30f	Ullrich congenital muscular dystrophy (@DISEASE$) is a unique congenital disorder characterized clinically by generalized muscle weakness, @PHENOTYPICFEATURE$ of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy.	has_symptom
+6cb0ca8d2493513686736f71a3a1e71124af59ee	@DISEASE$ (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, @PHENOTYPICFEATURE$ of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy.	has_symptom
+3b08b4fff21824601d7f57c78a9af89100dbcd8a	Ullrich congenital muscular dystrophy (@DISEASE$) is a form of merosin-positive congenital muscular dystrophy characterized by proximal @PHENOTYPICFEATURE$, distal laxity, rigidity of the spine, and respiratory complications.	has_symptom
+5f2c8e61946da20ec2290bd78772fc2bcedce755	@DISEASE$ (UCMD) is a form of merosin-positive congenital muscular dystrophy characterized by proximal @PHENOTYPICFEATURE$, distal laxity, rigidity of the spine, and respiratory complications.	has_symptom
+37191420b14123a060908708ecc26e785321aeaa	@DISEASE$ (UCMD) is a recessively inherited condition characterised by proximal @PHENOTYPICFEATURE$, marked distal joint hyperextensibility, rigidity of the spine and early respiratory failure.	has_symptom
+725f4ddd8fe198256f2cf230a100abb3ad56a400	Ullrich congenital muscular dystrophy (@DISEASE$) is a recessively inherited condition characterised by proximal @PHENOTYPICFEATURE$, marked distal joint hyperextensibility, rigidity of the spine and early respiratory failure.	has_symptom
+e9d0dc9b1c414b9c93acfc0fac2654aa6c34dccc	Patients with @DISEASE$ have generalized muscle weakness, multiple @PHENOTYPICFEATURE$ of the proximal joints, and hyperextensibility of the distal joints.	has_symptom
+a2b2cc7c44b13ae208d880284c045ed017616903	@DISEASE$ is an autosomal recessive condition causing severe muscle weakness with proximal @PHENOTYPICFEATURE$ and distal hyperlaxity.	has_symptom
+5567a853ddd3e954cbcb37133710b7dce23a151b	UCMD is an autosomal recessive condition causing severe @PHENOTYPICFEATURE$ with proximal @DISEASE$ and distal hyperlaxity.	false
+b49414fbc571c06e1f7fdb6421e9554cf75c4c02	@DISEASE$ is an autosomal recessive condition causing severe @PHENOTYPICFEATURE$ with proximal joint contractures and distal hyperlaxity.	false
+843aeee94568c508e0a8ff25ff70408e4e3c374b	@DISEASE$ (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, @PHENOTYPICFEATURE$ of multiple joints, and distal hyperextensibility.	has_symptom
+8cacfc58390739eeab75009511e0ad2169998438	Ullrich congenital muscular dystrophy (@DISEASE$) is an autosomal recessive disorder characterized by generalized muscular weakness, @PHENOTYPICFEATURE$ of multiple joints, and distal hyperextensibility.	has_symptom
+48e986cec0c8f9f1faaf66e53674e65efd86888d	Ullrich congenital muscular dystrophy (@DISEASE$) is an autosomal recessive disorder characterized by generalized @PHENOTYPICFEATURE$, contractures of multiple joints, and distal hyperextensibility.	false
+fa433867cf72fc63e64352025fd715564bdb1f65	Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized @PHENOTYPICFEATURE$, @DISEASE$ of multiple joints, and distal hyperextensibility.	false
+5085abb7eb3957a1db07dc6dd33fd5191815bdd6	@DISEASE$ (UCMD) is an autosomal recessive disorder characterized by generalized @PHENOTYPICFEATURE$, contractures of multiple joints, and distal hyperextensibility.	false
+eebb85d2d9e31b5cbbfe254a4d4757ee107c71f7	COL6 gene mutations are associated with Ullrich congenital muscular dystrophy (@DISEASE$), which is clinically characterized by muscle weakness from early infancy, hyperlaxity of distal joints, and multiple proximal @PHENOTYPICFEATURE$.	has_symptom
+9ded35c5dab0802be76c40a694a3f677c9102e3a	COL6 gene mutations are associated with @DISEASE$ (UCMD), which is clinically characterized by muscle weakness from early infancy, hyperlaxity of distal joints, and multiple proximal @PHENOTYPICFEATURE$.	has_symptom
+c3462d4c3b84377594c1283d65136afb9fa09c22	@DISEASE$ is well defined by the clinicopathological hallmarks including distal hyperlaxity, proximal @PHENOTYPICFEATURE$, protruding calcanei, scoliosis and respiratory insufficiency.	has_symptom
+261db7f577be9464ff12ca18e2966494d9a34f23	@DISEASE$ (UCMD) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal @PHENOTYPICFEATURE$.	has_symptom
+e868e21afc063b88642a9c1d46e25f198d46b80a	Ullrich congenital muscular dystrophy (@DISEASE$) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal @PHENOTYPICFEATURE$.	has_symptom
+3d5df1f5a09db4bfcf16680c4900d1a61470bc94	@DISEASE$ (UCMD) is characterized by congenital weakness, proximal @PHENOTYPICFEATURE$, and hyperlaxity of distal joints.	has_symptom
+a0b2b8b51404ac12696bd16e65c29bf25b06501a	Ullrich congenital muscular dystrophy (@DISEASE$) is characterized by congenital weakness, proximal @PHENOTYPICFEATURE$, and hyperlaxity of distal joints.	has_symptom
+34511300a4778d228987a6fce4dc817b48a0be31	At their last visit, none of the patients had decreased visual acuity that resulted from @DISEASE$-associated @PHENOTYPICFEATURE$.	has_symptom
+a463a533e13fc112756ce5764b54981d254b156a	@DISEASE$ is a newly described entity characterised by a constellation of arterial tortuosity, cranial malformations, and @PHENOTYPICFEATURE$.	has_symptom
+4f0000f6a71947fd60631b09f372632e3c36954f	@DISEASE$ (LDS) is an autosomal dominant connective tissue disorder characterized by @PHENOTYPICFEATURE$, bifid uvula, cleft palate and arterial tortuosity.	has_symptom
+40b0cdecc4ea4220bbc2522a85050247941c24cb	Features of @DISEASE$ that are important clues to aid in making this diagnosis include bifid broad uvulas, @PHENOTYPICFEATURE$, substantial joint laxity, and translucent skin.	has_symptom
+db9a1c6019d9634373f7d3bfd3474b3ab91e7842	@DISEASE$ (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$, and bifid uvula or cleft palate.	has_symptom
+2a48c4613314cbcab378ecd6851391d1cfcd6898	Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, @DISEASE$, and bifid uvula or @PHENOTYPICFEATURE$.	false
+672c5a55849e9ffa62651f09bf5a82aca318fc0f	Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and @DISEASE$ or @PHENOTYPICFEATURE$.	false
+bcfa15f09892fc43628b9d0170d985738551017c	@DISEASE$ (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or @PHENOTYPICFEATURE$.	false
+c1e9716cc691391c353612980fe421a0add389af	@DISEASE$ is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with @PHENOTYPICFEATURE$ and bifid uvula.	has_symptom
+bef27194d5b11f694cf2e3eeb37b3b2224d64e8a	@DISEASE$ (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, @PHENOTYPICFEATURE$, and bifid uvula or cleft palate.	has_symptom
+ed00b6196262205137f82d35af103c85c8041c37	Loeys-Dietz syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, @DISEASE$, and bifid uvula or @PHENOTYPICFEATURE$.	false
+bd87d128e09a3fd160ca84716578a452dc22c719	@DISEASE$ (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, hypertelorism, and bifid uvula or @PHENOTYPICFEATURE$.	false
+57cea8e47b24a0cdc5b3ea36c3f5acd4fde8d8e8	Loeys-Dietz syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, hypertelorism, and @DISEASE$ or @PHENOTYPICFEATURE$.	false
+6a38cd746fb5e3d94c21db91d71179567250f5ea	@DISEASE$ (LDS) is characterized by a triad of aortic aneurysm, vessel tortuosity, and @PHENOTYPICFEATURE$.	has_symptom
+315887273841b31131d43581e772682e40b341ba	@DISEASE$ presents early in life with rapidly progressive aortic aneurysmal disease, @PHENOTYPICFEATURE$, and bifid uvula/cleft palate.	has_symptom
+e58e667b462cd88cbcb115c0596521970465fe8f	@DISEASE$ presents early in life with rapidly progressive aortic aneurysmal disease, hypertelorism, and bifid uvula/@PHENOTYPICFEATURE$.	false
+cdc6d2f174032350d2dbdc29d1340fd6e22d3f1d	Loeys-Dietz syndrome presents early in life with rapidly progressive @DISEASE$ disease, hypertelorism, and bifid uvula/@PHENOTYPICFEATURE$.	false
+a5e6bb6a7e00e291c24816f4667744a3d87d1e93	Loeys-Dietz syndrome presents early in life with rapidly progressive aortic aneurysmal disease, @DISEASE$, and bifid uvula/@PHENOTYPICFEATURE$.	false
+d63e659f9b5d6ab213dbf6c71242a044cb8d0ec7	@DISEASE$ is characterised by vascular aneurysms, @PHENOTYPICFEATURE$, and a bifid uvula.	has_symptom
+800c60d1b4d606cceed4ab3afb11f255b2f96ad1	@DISEASE$ (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, @PHENOTYPICFEATURE$ and a bifid uvula or cleft palate.	has_symptom
+63f57ea28afabc7f7191ed81ccf6efca6c689b4c	@DISEASE$ (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism and a bifid uvula or @PHENOTYPICFEATURE$.	false
+c17247d915a5a9d335dbd8151823c60505d29d6d	Loeys-Dietz syndrome (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism and a @DISEASE$ or @PHENOTYPICFEATURE$.	false
+a3badba59c350deddf8d4adfb593a350e8495c79	Loeys-Dietz syndrome (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, @DISEASE$ and a bifid uvula or @PHENOTYPICFEATURE$.	false
+f54e4de99e172bd800c1eb19dbb0c86cb343a947	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, mental retardation, hypotonia, cerebellar dysfunction, polyneuropathy, @PHENOTYPICFEATURE$, and stroke-like episodes.	has_symptom
+8b0caafcde638f6b74a5fd5c0b68b59ba96beac4	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes.	false
+ea25b5dc51a08ee8433c6d0bc3be9f4322e8ccfc	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, @DISEASE$, seizures, and stroke-like episodes.	false
+ee53d0664bc2403196890e050ed3d2aaf9cf52a2	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes.	false
+cbd35a6f3f9f5d5ae4a82daad0686e2de429bc3c	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, @DISEASE$, and stroke-like episodes.	false
+2a2ec588c7b648c57818e6d37989d915fff88d9f	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	has_symptom
+5ffe20f3025686d7b8d79efd9dfb7bb646f88ea9	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+1c4f8e0928fd1f46bd34f6ddc188e14750718799	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+642635e72d34308e9488dcd5e5c80404e77e9592	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+e48455b8e8e3a0039f90b113e19ad87636d63063	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+e541082b9bfe7ff04bbce2b1bfdc19b5acc87477	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+febb497808bae9075e4a0a2aac8bf332fb1c6df5	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+bbc5bd1f2d5a01d5d8559aa1ac4d81e70e8fba72	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+99f6ec4f1d8ecd0716871aedcb4559b344aa6590	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+d6f05041b48e66408543f1e47752ed8080015e4c	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+7f3d5d190d9668350dac5bd6757ca715814c9f93	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+3464754c63bb5ee8c4dff36b5a26e4b7cf5f1a4c	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @DISEASE$, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+86f00b3396bedce7c21437436f1ec1334f268390	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @DISEASE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+bb2a61e0ad5ec0c7e27a93dbfe58e73eb07efd30	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+cb9a0137a7c151712c9b981cbc7adabd654b077f	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, @DISEASE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+b9c5ac6913fb88cd986ed56bc7e199df297c72ce	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius @DISEASE$, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+0ce194606adf427093bd5ff6c58c959c30971064	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or @PHENOTYPICFEATURE$, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+8eac9ede0df87b5886f2230b8dbc9255d14c6461	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @DISEASE$, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+6a38a48753d21867c2d758147a2ead470b25f3fc	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+aa4399a3e0b7b6baedd8720b5543ce17273d5e3e	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, @PHENOTYPICFEATURE$, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+c7db33430e3776ea2069b80d9da0383ef3ba5cc6	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, @DISEASE$ and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+0073b932c3c952cbb7919c869e61e1de517597a0	The locus was exactly the candidate interval of SCA4, a rare form of @DISEASE$ clinically characterized by ataxia with @PHENOTYPICFEATURE$ and pyramidal tract signs.	has_symptom
+74ce6bc9a9d20138e948bfed087832fbaab0285f	The locus was exactly the candidate interval of SCA4, a rare form of ADCA clinically characterized by @PHENOTYPICFEATURE$ with @DISEASE$ and pyramidal tract signs.	false
+2328dd8450e531fb7adfb4a27ad850434bb0a760	The locus was exactly the candidate interval of SCA4, a rare form of @DISEASE$ clinically characterized by @PHENOTYPICFEATURE$ with sensory neuropathy and pyramidal tract signs.	false
+6858304d0a8660188ca59c44a35391205259386a	This 44-year-old female @DISEASE$ patient presented with tinnitus, @PHENOTYPICFEATURE$, and binaural hearing loss.	has_symptom
+7e794988fdbe527c699fb5cbc3f1f66d67ee7b90	This 44-year-old female von Hippel-Lindau disease patient presented with @PHENOTYPICFEATURE$, @DISEASE$, and binaural hearing loss.	false
+c8555f8a8dbcd6ead03d42ca4d2ebf0a34ef9670	This 44-year-old female @DISEASE$ patient presented with @PHENOTYPICFEATURE$, vertigo, and binaural hearing loss.	false
+b55b05208bb2458a53d5d29e2781f8d6574506e6	This 44-year-old female von Hippel-Lindau disease patient presented with @PHENOTYPICFEATURE$, vertigo, and binaural @DISEASE$.	false
+d531b554fcc3bbed57181604ab695db5fda27323	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for @DISEASE$ patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and tinnitus or @PHENOTYPICFEATURE$ (41% versus 60%).	has_symptom
+9976d9358b7ed735e82b5f9acef60145c61b1762	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-@DISEASE$ patients), facial weakness (38% versus 49%), and tinnitus or @PHENOTYPICFEATURE$ (41% versus 60%).	has_symptom
+c065e7efc32d8dd1cf25e6010f8ce799dfd4cdce	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), @DISEASE$ weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or vertigo (41% versus 60%).	false
+b6f63dd3df8c0f7f1f0b86cb904e3ba8a5f41a81	Symptoms consisted of @DISEASE$ (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or vertigo (41% versus 60%).	false
+606b9757a2137619ed6500f2c9fff442d3cf22e7	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-@DISEASE$ patients), facial weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or vertigo (41% versus 60%).	false
+6b86ce370c21af500ae28e7444d1d54f41ff23b3	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or @DISEASE$ (41% versus 60%).	false
+a3f98fc0f3c9177c72bee514f557b52a06288d1e	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for @DISEASE$ patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or vertigo (41% versus 60%).	false
+209175569d413ce30e2281660b72deacee6f51ed	The authors present the case of a 33-year-old man with @DISEASE$ disease and a 10-year history of progressive tinnitus, @PHENOTYPICFEATURE$, and left-sided hearing loss.	has_symptom
+ffb14d13660f96cda9773bb566020497cae58368	The authors present the case of a 33-year-old man with @DISEASE$ disease and a 10-year history of progressive @PHENOTYPICFEATURE$, vertigo, and left-sided hearing loss.	false
+8afac052391761278562eae7535f0a25b79d72ea	The authors present the case of a 33-year-old man with VHL disease and a 10-year history of progressive @PHENOTYPICFEATURE$, @DISEASE$, and left-sided hearing loss.	false
+719a3fcaec9249840ec454f291ee992d4a53e551	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, @PHENOTYPICFEATURE$, macrocephaly, and corpus callosum agenesia, but with absence of skin lesions.	has_symptom
+a87be3679b1a3fc7f7e488787190d58d0a6abf4a	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and @PHENOTYPICFEATURE$, but with absence of skin lesions.	false
+81cbc48c909fa762ba5127c514192206da50be5a	The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, @DISEASE$, @PHENOTYPICFEATURE$, and corpus callosum agenesia, but with absence of skin lesions.	false
+71a6803f05dd47f97bbd1265cb17f2231e4e0b78	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, @PHENOTYPICFEATURE$, and corpus callosum agenesia, but with absence of skin lesions.	false
+97ee67ce8d6aef5b1ba484b2916053da015aabc3	The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, @DISEASE$, macrocephaly, and @PHENOTYPICFEATURE$, but with absence of skin lesions.	false
+2a25ac0bb8ad5909de942464e442d2ced2e0006a	Other clinical and radiographic stigmata of the syndrome were diagnosed, including calcified falx cerebri, frontal bossing, @PHENOTYPICFEATURE$, @DISEASE$, and others.	has_symptom
+da836fe3f7f16916e5229158400fca668e1c1f28	Because of macrocrania, @PHENOTYPICFEATURE$ and epidermal punctiform lesions in the palm of the hand, @DISEASE$ was clinically suspected and molecularly confirmed by finding a deletion of 22 base pairs in the PTCH1 gene.	has_symptom
+804dca71927463a0cff4a94eec2515dd2b8d32b7	Gorlin-Goltz syndrome, also named @DISEASE$, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, @PHENOTYPICFEATURE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	has_symptom
+6248d9ef4ec7f8c0516d4fc91ac7323ea7d682b3	@DISEASE$, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, @PHENOTYPICFEATURE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	has_symptom
+58450176a77e505d53ed899d2083041cd9687f2a	Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant @DISEASE$ characterized by unusual skeletal changes, such as @PHENOTYPICFEATURE$, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+caff94111ae3a3d36e774b66240ed33f49989e7e	@DISEASE$, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as @PHENOTYPICFEATURE$, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+f7ff2f6329ac54bae7479eff1b748273c78c070f	Gorlin-Goltz syndrome, also named @DISEASE$, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as @PHENOTYPICFEATURE$, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+ab62878c049b22441428a849b33a15ca467dbb17	Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as @PHENOTYPICFEATURE$, facial asymmetry, @DISEASE$, frontal and parietal bossing caused by germline mutations of the gene PTCH1.	false
+eb0817b4bacdf0ff11747fa5d3440c19fba50778	A complex form of pluridistrectual dysmorphic disorder (@PHENOTYPICFEATURE$, prognathism, frontal bossing, multiple cysts of the mandible, calcification in falx cerebri, etc) was also present, suggesting a limited form of Gorlin's syndrome (@DISEASE$).	has_symptom
+29277b54af0dadb4d0a262d32068e82a6a2146bb	@DISEASE$, rib abnormalities, along with clinical evidence of frontal bossing and @PHENOTYPICFEATURE$ were the primary features of the syndrome in this patient.	has_symptom
+35b7317ea0d37f59e2df65b63be45357b32d5e6d	Associated events were macrocrania in six patients, @PHENOTYPICFEATURE$ in three patients, and @DISEASE$ in the radiation field after age 18 years in one patient.	has_symptom
+901f11f6f4908080321df5d7d644a6bb4968fb07	A history of developmental delay, followed by @PHENOTYPICFEATURE$, is common in individuals with @DISEASE$.	has_symptom
+21a778b2db9d6d07e7f4a2b469d93b0e22ced3a0	Trisomy 13 and @DISEASE$ (SLOS) are both well-recognized multiple congenital anomaly/@PHENOTYPICFEATURE$ syndromes.	has_symptom
+c05bb6df0cde6026dc167d4a813ee0a5fbd681d1	@DISEASE$: a treatable inherited error of metabolism causing @PHENOTYPICFEATURE$.	has_symptom
+d87db617da6edbc0f618fa2dbba0d3f7d7c0b20e	The @DISEASE$ (SLOS; also known as the RSH syndrome) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and @PHENOTYPICFEATURE$.	has_symptom
+deacc8f8a74ccd2e68084ad38dae343439ae0a02	The Smith-Lemli-Opitz syndrome (SLOS; also known as the @DISEASE$) is an autosomal recessive genetic disorder, leading to characteristic multi-organ developmental abnormalities, dysmorphic facies, limb malformations and @PHENOTYPICFEATURE$.	has_symptom
+16541a48796ef03ee544db098529488f1f5126b1	@DISEASE$ (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and @PHENOTYPICFEATURE$.	has_symptom
+5dffd730c6c8b0c369cac6f88c5e562f2e6141be	@DISEASE$ is an autosomal recessive metabolic disease characterized by @PHENOTYPICFEATURE$ and multiple congenital anomalies.	has_symptom
+bb3c2ea7ee783a807ed1102a97824f21730f76cc	[Differential diagnosis of @PHENOTYPICFEATURE$ children--report of 2 cases on the @DISEASE$].	has_symptom
+dad2c64ad39eaa5c3dfc901468b9f050f3bfb988	@DISEASE$ (SLOS) is a @PHENOTYPICFEATURE$/multiple congenital anomaly syndrome.	has_symptom
+d289692d4c10981205c340fdd29c8c5a325c3646	The Smith-Lemli-Opitz syndrome (SLOS), or @DISEASE$, is a well-characterized multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome.	has_symptom
+1ff0f3daa7f28594872f92393620e4f4c0ebc638	The @DISEASE$ (SLOS), or RSH syndrome, is a well-characterized multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome.	has_symptom
+17c5251cab3a866ea4e1841b34cd7abe914442d1	@DISEASE$ (SLOS) is an inherited malformation and @PHENOTYPICFEATURE$ metabolic disorder with no cure.	has_symptom
+2fcc130f44e59f56f457fda399e069238740426c	We report on a boy who had @DISEASE$, an autosomal dominant disorder characterized by progressive symphalangism, multiple joint fusions, @PHENOTYPICFEATURE$, and mild facial dysmorphism.	has_symptom
+b6679a008747ec911d72920c3608bb22e82aabac	We report on a boy who had multiple synostosis syndrome 1, an autosomal dominant disorder characterized by progressive symphalangism, multiple joint fusions, @DISEASE$, and mild @PHENOTYPICFEATURE$.	false
+60070689d1fb49aedc60781502feb808585670ec	We report on a boy who had @DISEASE$, an autosomal dominant disorder characterized by progressive symphalangism, multiple joint fusions, conductive deafness, and mild @PHENOTYPICFEATURE$.	false
+cd33482f109a744a04cf36d2c33eb40baeaf2fb1	Fatal @PHENOTYPICFEATURE$ in polymyalgia rheumatica caused by disseminated @DISEASE$.	has_symptom
+1c322f5bf04f830c85a37dd84a3dccc562b084c8	Isolated renal @DISEASE$, not so rare a cause of @PHENOTYPICFEATURE$?	has_symptom
+246d229bdbc32d311ad80763aa7480dadfe2d38e	A 59-year-old white woman with @DISEASE$ developed progressive @PHENOTYPICFEATURE$.	has_symptom
+c564adb880e9115d5a1ef1854bd27b74e8493244	Despite the fact that the disease (nasal septum perforation, hard palate bone destruction, recurrent nasopharyngeal bleeding, considerable @PHENOTYPICFEATURE$, and high erythrocyte sedimentation rate,) progressed rapidly for 5 months, the patient was found to be diagnosed as having @DISEASE$ (WG).	has_symptom
+0f8d37e47a6ba71cc241dbde00f154a1fdfd6c71	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	has_symptom
+17eeef2b18f211ae1fe73b22ea6f19d54f323130	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+fb7219a2a39a6a575a15641be8ae473af0816e5a	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+7aa420e204968ac8b97d39c994cc8ccea894ed78	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @DISEASE$.	false
+83371d508d8a756e492a444932f6dd6d80b44f2c	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and @DISEASE$.	false
+ec9d0e420f754950795018249963e71d34bc40e6	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+895db437b411fd5396fb3573e672acd2c648d734	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+ddd5b474614e36bd2abdea52764e1b8d18f7bab7	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+76958fe346bbe57484758f29db5c7bd81af00a60	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and @DISEASE$.	false
+d2c43ae71e68676f76736b051bf46fa278eec3a8	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+10bf8e1ba097f8b74230d7a4c1d85defffd91d7f	@DISEASE$ is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, @PHENOTYPICFEATURE$, gross developmental delay and failure to thrive.	has_symptom
+b5baf8ab839b73cb1cdf9c14cb6d48e42da0a2c7	Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, hypopigmentation, @DISEASE$, gross developmental delay and failure to thrive.	false
+1052535888fa070aa0fb9da0e5d3fe7c678dfb3c	Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+2d8fc06889992053788c4ae2aa9a816fefbc22ac	Vici syndrome is a disorder characterized by myopathy, @DISEASE$, agenesis of the corpus callosum, immunodeficiency, cataracts, @PHENOTYPICFEATURE$, microcephaly, gross developmental delay and failure to thrive.	false
+c5cb13fec87f6c7ab5c5ca5321e94c788057abc4	Vici syndrome is a disorder characterized by myopathy, @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+197c20faea71d7e001a37d81122a871be7c44e69	Vici syndrome is a disorder characterized by myopathy, @DISEASE$, agenesis of the corpus callosum, immunodeficiency, @PHENOTYPICFEATURE$, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+4dc7dfd0485a2860cd011eee59eb94f3601477ff	@DISEASE$ is a disorder characterized by myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+cc31599f8ba159f4253ea53e603193f913db0b45	@DISEASE$ is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, @PHENOTYPICFEATURE$, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+db4b3c365f3003fd1fee8532163defc9831afcb6	Vici syndrome is a disorder characterized by @DISEASE$, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, @PHENOTYPICFEATURE$, microcephaly, gross developmental delay and failure to thrive.	false
+f90fd16a7aadc749d90191c10c6cbc25ce4b853a	Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, @PHENOTYPICFEATURE$, @DISEASE$, gross developmental delay and failure to thrive.	false
+219ca4193b55d566cc06930fd19c01d99f4074ac	Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, @DISEASE$, cataracts, @PHENOTYPICFEATURE$, microcephaly, gross developmental delay and failure to thrive.	false
+e9cf03097bd0388a37131b9b790285525421fa56	Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, @PHENOTYPICFEATURE$, hypopigmentation, @DISEASE$, gross developmental delay and failure to thrive.	false
+8c5a1ea49ae4f2ccb787ee47458f2f32496542be	Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, @DISEASE$, @PHENOTYPICFEATURE$, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+aca1d0fc1c2563dff5154a9cf28af4e65da4bb26	Vici syndrome is a disorder characterized by @DISEASE$, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, @PHENOTYPICFEATURE$, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+bf8a4a8558299b3c026e5711ff6e053a2891ad8c	Vici syndrome is a disorder characterized by @DISEASE$, cardiomyopathy, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive.	false
+348708a3a953c0d5e31dd2c739b773f011748253	@DISEASE$ is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, @PHENOTYPICFEATURE$, microcephaly, gross developmental delay and failure to thrive.	false
+277db3ca01f81a9e5cd65276851018dbd8b1a912	@DISEASE$ (ALGS) is an @PHENOTYPICFEATURE$ disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face.	has_symptom
+13aaa368c790163d810133539b8b4421d6ea4b9e	The diagnostic aid in diseases of the kidney (unilateral and bilateral @PHENOTYPICFEATURE$, shock kidney, stenosis of the renal arteries, aortic occlusion), suprarenals (@DISEASE$) and the skeleton of the entire body (diagnosis of metastases and non-malignant bone diseases) are reviewed.	has_symptom
+92626ca56aedd20888853d3551e72e38dc9a4b10	@DISEASE$ (BOS) is a rare disease with a number of characteristic features, including @PHENOTYPICFEATURE$, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation.	has_symptom
+64b44fe4af7f305e1abcb7724dd85cde351fe0a3	Bohring-Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including @DISEASE$, prominent metopic suture, exophthalmos, cleft @PHENOTYPICFEATURE$ posture, and developmental retardation.	false
+0641e359da38d14925cc837596fcf656c297ff66	@DISEASE$ (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft @PHENOTYPICFEATURE$ posture, and developmental retardation.	false
+d9b90637949ecf5295dbdbce371d9e43e0281183	The classic features of @DISEASE$ include prominent metopic suture, exophthalmos, @PHENOTYPICFEATURE$, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant neurodevelopmental delay.	has_symptom
+a5820e80d83b90beada52b422b4954b6762efec6	The classic features of @DISEASE$ include prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant @PHENOTYPICFEATURE$.	false
+cedac7456dd4b1e4af3b7c67dc488f73e382855e	The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, hypertelorism, @DISEASE$, flexion deformities of the upper limbs, nevi flammei, and significant @PHENOTYPICFEATURE$.	false
+b9d998f0cdb3495d04c688919cb5354a7d1a872d	The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, @DISEASE$, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant @PHENOTYPICFEATURE$.	false
+45f3951718f1d4b53bb38fd4a32bc1e923cdd8b4	We report on four additional unrelated cases of @DISEASE$ with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, @PHENOTYPICFEATURE$, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, and severe failure to thrive.	has_symptom
+5b7e28f683b70f9deca373e225e6614c1de6d18a	@DISEASE$ mimicking vasculitis in a patient with renal failure and @PHENOTYPICFEATURE$.	has_symptom
+501569740ac157341d32a1550587070fc152aca1	@DISEASE$ mimicking vasculitis in a patient with @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+1701f42d5b04eb76084ef28680da01d34fbf0f26	Brucellosis mimicking @DISEASE$ in a patient with @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+a5c427c2c51a6883590ed6dc1e795bf552a73c08	Brucellosis mimicking vasculitis in a patient with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b8af5616b1e8ae7513dfe7a2c2ddbcaf27523ae9	We hypothesized that skin fibroblasts from patients with @DISEASE$ (NF) may have abnormalities of growth in tissue culture to correlate with the clinical abnormalities of @PHENOTYPICFEATURE$ and malignancy seen in this disease.	has_symptom
+c7779a6a05573395d018560ef9033f1b409c859e	Skeletal @PHENOTYPICFEATURE$ with modelling error in @DISEASE$.	has_symptom
+1602b07b87f161e331be6c2be4e26eb7ed8a7a65	A rare case of multiple @DISEASE$ with pronounced facial asymmetry and mandibular @PHENOTYPICFEATURE$ is presented and discussed.	has_symptom
+a6d514c298976982aa653de0c334b33f87a6738d	Less familiar disorders, with or without @PHENOTYPICFEATURE$, such as deficient synthesis of serine or creatine and impaired glucose transport into the brain, and disorders with variable malformations, such as Smith-Lemli-Opitz (@DISEASE$) syndrome and the congenital disorders of glycosylation (CDGs), may initially be thought to be a nonspecific form of developmental delay.	has_symptom
+ba6f6dc138c98b462b82fefe8b103a9dcb11561e	Patients with @DISEASE$ (OI) present with various degrees of @PHENOTYPICFEATURE$ and nutritional disorders.	has_symptom
+7ea1ed880bbbdf2fa56d0e9830702b66581a1c20	@DISEASE$ (OI) is a genetic disorder characterized by abnormal collagen formation and @PHENOTYPICFEATURE$.	has_symptom
+3820859178225e4c838082914dcbdceabb4bd867	@DISEASE$ is a hereditary bone dysplasia characterized by bone fragility, deformity, and @PHENOTYPICFEATURE$.	has_symptom
+3a8906004a9eeb9128fd9ef18998b095f4900934	@DISEASE$ (OI) is characterized by bone fragility and @PHENOTYPICFEATURE$.	has_symptom
+965621d2ea9fddd60f4924a8ee50bc5c4c1a93c5	@DISEASE$ (OI) predisposes people to recurrent fractures, bone deformities, and @PHENOTYPICFEATURE$.	has_symptom
+64cf4eb136f26d2316dbe999f0bd3ab0567d5fe4	Osteogenesis imperfecta, also named as @DISEASE$, is characterized by fragile bones and @PHENOTYPICFEATURE$ caused by mutations in the collagen gene.	has_symptom
+f942632c342e5e244a74ba170406f8c13f894ba9	@DISEASE$, also named as brittle bone disease, is characterized by fragile bones and @PHENOTYPICFEATURE$ caused by mutations in the collagen gene.	has_symptom
+a836a4e671fed2284772c554bd4757c1e33401f6	@DISEASE$ (OI) is a rare hereditary skeletal disease leading to recurrent fractures, @PHENOTYPICFEATURE$ and impaired mobility.	has_symptom
+1ab5bb631bd509dd7b888bc656fe7c3bdda698be	@DISEASE$ (OI) is a heritable skeletal disorder with bone fragility and often @PHENOTYPICFEATURE$.	has_symptom
+88b177352723a084f95110b9427ce7fbb93fb084	@DISEASE$ is a congenital disorder resulting in multiple fractures and extremely @PHENOTYPICFEATURE$, usually necessitating cesarean delivery.	has_symptom
+e4519782b37925e0cb10759343907177556531dd	@DISEASE$ (OI) is a heritable disorder of connective tissue associated with fractures, osteopenia, and @PHENOTYPICFEATURE$.	has_symptom
+394fa04628a53d8743ce81232a86a78e4ce07d04	Besides being an uncommon clinicopathological entity, interstitial granulomatous dermatitis, also described as @DISEASE$ (IGDA), has shown a wide spectrum of clinical manifestations, such as linear and @PHENOTYPICFEATURE$ lesions, papules, plaques and nodules.	has_symptom
+27f331eca846918f775f98681461272658bb9670	Both patients presented with chronic, slightly burning, bilateral, @PHENOTYPICFEATURE$, linear or curvilinear elevated cutaneous indurations on the lateral chest wall strikingly reminiscent @DISEASE$.	has_symptom
+3fd61396877a4cfc3c21415c36ccf59ea19caff3	No reported cases of GCPS have hypothalamic hamartoma and @DISEASE$ does not cause @PHENOTYPICFEATURE$ or broadening of the nasal root or forehead.	has_symptom
+857a267a08873910e41756ab8953e74333eff2c8	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann @DISEASE$ and @PHENOTYPICFEATURE$, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region.	has_symptom
+41096d263cac96ba22b1886670c42bcd0d9103e9	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without @DISEASE$ or @PHENOTYPICFEATURE$, was investigated with molecular probes from the distal Xp22.3 region.	false
+91106f51548c29283783ccf1ee37055cb345f0b7	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and @DISEASE$, but without chondrodysplasia punctata or @PHENOTYPICFEATURE$, was investigated with molecular probes from the distal Xp22.3 region.	false
+cf9fdb586e8aebd39df8b905f6f4ed4f79b568f3	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann @DISEASE$ and mental retardation, but without chondrodysplasia punctata or @PHENOTYPICFEATURE$, was investigated with molecular probes from the distal Xp22.3 region.	false
+091b59315f742f696356d3a202026f2d7d467ed7	Analysis of an interstitial deletion in a patient with Kallmann @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+de3b7d5ad98debff44e39aa1418db6c5d20aa114	@DISEASE$ is an overgrowth disorder of unknown etiology associated with a high incidence of @PHENOTYPICFEATURE$.	has_symptom
+178f5993e659776d5c9f69168be7c71637390e71	Sotos syndrome is an @PHENOTYPICFEATURE$ disorder of unknown etiology associated with a high incidence of @DISEASE$.	false
+b7dfd34cad39828e67c19127b3092af5420f5ea2	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder of unknown etiology associated with a high incidence of congenital heart defects.	false
+aac1751b6164a0414af1d52a50db2c1fd8c681b7	In the light of these two cases, we suggest that patients with @DISEASE$ be evaluated for LVNC cardiomyopathy when being screened for @PHENOTYPICFEATURE$.	has_symptom
+8b076880cde6da0af289f91c78471facc3b6776d	@DISEASE$ is a well-described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, @PHENOTYPICFEATURE$, and variable learning disabilities.	has_symptom
+ac3780e330fbeb5804042135fcf77dfe382c4835	@DISEASE$ is a well-described multiple anomaly syndrome characterized by @PHENOTYPICFEATURE$, distinctive craniofacial appearance, cardiac abnormalities, and variable learning disabilities.	false
+0d87ab2e3450871b0a0a5a2a2bf524607914c1bb	Sotos syndrome is a well-described multiple anomaly @DISEASE$ characterized by @PHENOTYPICFEATURE$, distinctive craniofacial appearance, cardiac abnormalities, and variable learning disabilities.	false
+b0f0454b2663c89fdfeb9bffd212699b8ab01dfc	Sotos syndrome is a well-described multiple anomaly syndrome characterized by @PHENOTYPICFEATURE$, distinctive craniofacial appearance, @DISEASE$, and variable learning disabilities.	false
+2c88d11810f23aba5c0d96292bbe55d78d38dd1b	Of 60 patients with @DISEASE$ treated in our hospital, 6 had @PHENOTYPICFEATURE$.	has_symptom
+7c5ab500f3f42384b50450769d06c646c476d877	We report on 3 patients with @PHENOTYPICFEATURE$ out of 14 @DISEASE$ patients studied clinically and or by echocardiography.	has_symptom
+7b02f607a148b6ba4c45cc4aea8b50b75ef5403d	@DISEASE$ is an overgrowth disorder that manifests characteristic dysmorphic features, neurological problems, and an increased risk for cancers and @PHENOTYPICFEATURE$.	has_symptom
+a8302d6406023fb69cb0cdb5341d4d119b87fe67	Sotos syndrome is an @PHENOTYPICFEATURE$ disorder that manifests characteristic dysmorphic features, neurological problems, and an increased risk for cancers and @DISEASE$.	false
+6d2f1d9730e82808c0ad3c7c7a76498f41008b59	Sotos syndrome is an @PHENOTYPICFEATURE$ disorder that manifests characteristic dysmorphic features, neurological problems, and an increased risk for @DISEASE$ and heart defects.	false
+4db1d6cef914caaa35684ce30a7eeb6067b2440a	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder that manifests characteristic dysmorphic features, neurological problems, and an increased risk for cancers and heart defects.	false
+0a46b535bdf0f1e479036312100120f41659b273	@DISEASE$ is a rare condition characterized by typical facies, early accelerated growth, large body size, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+5e478d8eb56a6f22fd5458534319c295bcb31e42	Haploinsufficiency of HDAC4 gene has been reported to result in @DISEASE$ (BDMR), a condition with significant intellectual impairment, @PHENOTYPICFEATURE$ type E, and typical facial features.	has_symptom
+896a0802892f621423225b1423143cde3056fd73	Haploinsufficiency of HDAC4 gene has been reported to result in @DISEASE$ (BDMR), a condition with significant @PHENOTYPICFEATURE$, brachydactyly type E, and typical facial features.	false
+7435514a4fe9656d243c2c2b212895065ec91380	Haploinsufficiency of HDAC4 gene has been reported to result in brachydactyly-"mental retardation" syndrome (BDMR), a condition with significant @PHENOTYPICFEATURE$, @DISEASE$ type E, and typical facial features.	false
+3dba7a289e61fce42d493ff556c2a68033bd68d0	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	has_symptom
+845b97797016dd608b9f4a03ddf24108ab879344	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, @DISEASE$, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+bc79d17699197ef951383e7800903cd4d54cdfdc	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+210bb193e09e216fa95fd9e7202ff1a8e2d829ef	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including @DISEASE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+d8397a3130963b9aefd3b606787404ed2c44f55b	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes @PHENOTYPICFEATURE$, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+cb52b7b9294886518df374c8a20aa7ca8dd89b71	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+8cc27cabd60e19e5ebe2306b0e0441cf3f0ce688	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, @PHENOTYPICFEATURE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including @DISEASE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+e6c23cff3168585cea4d2cb92e13ead4c5656f6f	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @PHENOTYPICFEATURE$, behavioral abnormalities, @DISEASE$, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+6f35b7fe0615b41ad9cc2062b9b1f3f18e01448e	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, @PHENOTYPICFEATURE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+b333d4a1be61ddd3af4c8769035671315bfb4cd8	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @PHENOTYPICFEATURE$, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including @DISEASE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+243556b3ded7a0ab8d9a2eda8ea0a61e1e542ebd	@PHENOTYPICFEATURE$ and mental retardation: an @DISEASE$ localized to 2q37.	has_symptom
+d8aa36fbb352d1dedeed85699ceb0f2cde938726	Brachydactyly and @PHENOTYPICFEATURE$: an @DISEASE$ localized to 2q37.	false
+fec6884c98ce9e93ae1db59597c1ffab7094283a	@DISEASE$ and @PHENOTYPICFEATURE$: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.	false
+2daae79cc709ad711cfc601a170eb126124ed6b3	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @PHENOTYPICFEATURE$ mental retardation (@DISEASE$) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	has_symptom
+af77d48742ca790487d3ef0b8e74186b4a5b35b3	Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome; a syndrome which has phenotypes similar to @DISEASE$ (AHO) syndrome.	false
+d43799d9477478fe17a38abd9890138a331956d5	Deletion of chromosome 2q37 results in a rare congenital @DISEASE$ known as brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+7a01a036daf1c3115b417545f7079844a129823d	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @DISEASE$ @PHENOTYPICFEATURE$ (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+b7c797c99c84ab0d59d9dfe8f987e943e7a7010d	Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly @PHENOTYPICFEATURE$ (BDMR) @DISEASE$; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+0df0398100e921c85bf01da64c010b936d96cb41	Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly @PHENOTYPICFEATURE$ (@DISEASE$) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+52c35c1ada356476dae73eb36815dfdc8a455d49	Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) @DISEASE$.	false
+44abb5dc0955029c4c103c1aa1c182bf0835dea6	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (@DISEASE$) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	has_symptom
+ffa758d0348aa1265d2dda304b8d4288258ae5fd	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although @DISEASE$ syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	has_symptom
+6b09139c086a418c4e1e8d22f6113ca4b04f491c	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (BDMR) @DISEASE$ in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+486869308a31fb672e81fd24c4bb6d8798e85160	Clinicians must have @DISEASE$ @PHENOTYPICFEATURE$ (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+8779b6d122d791c17734992aefcfe2e64c7bfb54	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (@DISEASE$) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+dad044774aed17ac43ee99a9c2a3837dc2421627	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR @DISEASE$ is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+dfa222ca75395c596ed33ed7f7ab0eb410053c77	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although @DISEASE$ syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+ec9b1d508f514a88da6bc9e1773a0ac22c8187e3	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome in consideration when they are faced with the features of @DISEASE$.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+8fade57a8996c385ab40e92882555009c817a4c0	@DISEASE$, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with @PHENOTYPICFEATURE$.	has_symptom
+9be7188cfa07a77c3f0e15764c0a72a5352b4f25	Okihiro syndrome, @DISEASE$ or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with @PHENOTYPICFEATURE$.	has_symptom
+9bf96758b5e8812955ecb724bb092d4e031aaf9d	@DISEASE$ is a relatively uncommon condition associated with fever, malaise, @PHENOTYPICFEATURE$, dyspnea, and hypoxia.	has_symptom
+69a45feb33b7f6c7dc650d6d5697e197b4ca9f79	Chronic eosinophilic pneumonia is a relatively uncommon condition associated with @PHENOTYPICFEATURE$, malaise, @DISEASE$, dyspnea, and hypoxia.	false
+a9863fec08c01b325c97edcfd896175b7e4d7bce	@DISEASE$ is a relatively uncommon condition associated with @PHENOTYPICFEATURE$, malaise, weight loss, dyspnea, and hypoxia.	false
+633fa2208ddc01761c21b625065c041158c9aadf	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @PHENOTYPICFEATURE$, polydactyly and skeletal dysplasia.	has_symptom
+911af9923543fcd2109d84103f76ae12c4954342	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+47b1b4da56da322abbcb77141719883791a93185	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+21a88a9342ca7120163cb8bb836dd1f663133223	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly and skeletal dysplasia.	false
+fbb980871f1010ea5ed876866814ba6c6cb1082e	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @DISEASE$, polydactyly and @PHENOTYPICFEATURE$.	false
+143780ed79cc95db9afeaf25c3b4c4f5af98109d	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, @DISEASE$, polydactyly and skeletal dysplasia.	false
+e2237394606c0a1c902331aaad2ecfdcf65fbc21	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+51b14f54035c10952b123cd13c0e129c0b30f2a5	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+e069caa98cfdc66f03df2becc7a3abbf5c7ce151	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+1382aa42e2f0bde4bcff942d3d449d3dbd2fa456	The patients demonstrated features seen in @DISEASE$, including @PHENOTYPICFEATURE$, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1.	has_symptom
+db40fd85eba091a8db9afe71449bae9f38617608	@DISEASE$ is characterized by congenital ichthyosis, @PHENOTYPICFEATURE$ and spastic diplegia or quadriplegia.	has_symptom
+f41dc31ac079ecb9bd625cfe56ece2f586042650	@DISEASE$ (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and @PHENOTYPICFEATURE$ due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene.	has_symptom
+9b8407c09debca69a12ff16805df440422cb3557	@DISEASE$ is a rare disease characterized by the occurrence of @PHENOTYPICFEATURE$, spastic diplegia and ichthyosis.	has_symptom
+e5ce546a35fd47f095426e6fb0b2b9f6a04c1e5b	We report a case of @DISEASE$ with clinical profile (spastic diplegia, icthyosis, @PHENOTYPICFEATURE$) and imaging findings on magnetic resonance imaging.	has_symptom
+98d35ce9c228615f0eb58f923ed7f5d77e93aab5	@DISEASE$ (SLS) is characterized by the triad of ichthyosis, @PHENOTYPICFEATURE$, and spastic diplegia or quadriplegia.	has_symptom
+c539911c04dfa14f9e8886a7b3109fc1f856b29d	The @DISEASE$ (SLS) was originally defined as a clinical triad consisting of ichthyosis, spastic di- or tetralegia, and @PHENOTYPICFEATURE$, with autosomal recessive inheritance.	has_symptom
+2de94bfd1281b68dc849724cc1f1e7057cf5762b	Congenital ichthyosis, @PHENOTYPICFEATURE$ and spasticity (@DISEASE$).	has_symptom
+f5aa913297cce32d7b09706d7376641837480bd0	Congenital ichthyosis, @DISEASE$ and @PHENOTYPICFEATURE$ (Sjogren-Larsson syndrome).	false
+7f4cdda25c7f16bc386fc6c6f784f3504bad07fb	Congenital @DISEASE$, mental retardation and @PHENOTYPICFEATURE$ (Sjogren-Larsson syndrome).	false
+425a8ddfd1512814f22257a248e406d07fe862b5	Congenital ichthyosis, mental retardation and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+da20f67c09c020048903a1e47003c29c9dab51db	The @DISEASE$ is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and @PHENOTYPICFEATURE$.	has_symptom
+13ff3865901ea807880699dced970ccdcd8b0535	In conclusion, @DISEASE$ must be considered in differential diagnosis in patients presenting with @PHENOTYPICFEATURE$ and LAP in non-endemic regions.	has_symptom
+8a7932c4dfb74d7ff78eabb8e96d2395c1604886	In conclusion, @DISEASE$ which is an endemic disease in Turkey, should be kept in mind in patients with @PHENOTYPICFEATURE$, sore throat and lymphadenopathy.	has_symptom
+287db089a25507eb7afc7034ecf66d1af2cd4373	Oropharyngeal @DISEASE$: an uncommon cause of pharyngitis, @PHENOTYPICFEATURE$, and adenopathy.	has_symptom
+31d433e62fb4b0332c542aa58d03c1bf3cb53f92	@DISEASE$ is a bacterial disease (Francisella) spread by ticks and rabbits and characterized by @PHENOTYPICFEATURE$ and adenopathy.	has_symptom
+58f69fe43d7d4a7bd5025b1f4c90991aa19ba93f	Missouri represents a major focus of several tickborne diseases that includes spotted @PHENOTYPICFEATURE$ rickettsiosis, @DISEASE$, and ehrlichiosis.	has_symptom
+29cba4e08fc0e764644643d274b7a7470ec1a473	The cases presenting with throat sore, @PHENOTYPICFEATURE$, lymphadenopathy (more than 2 cm), non-responsive to beta-lactam antibiotics, should be further investigated for @DISEASE$.	has_symptom
+295ef21df422489fc0ff1d541204fe411c677ebb	They are important disease vectors and are implicated in transmission of Rocky Mountain spotted fever (RMSF), Colorado tick @PHENOTYPICFEATURE$, @DISEASE$, and erlichiosis.	has_symptom
+12cd6f28cab7a459303ee5cc6d34446dbba29f89	This series emphasizes the importance of @DISEASE$ as an early consideration among children with @PHENOTYPICFEATURE$ and lymphadenopathy in Arkansas.	has_symptom
+dc33bba0e91cc7dbf9ac5fddc04bde1345c4dda9	Appropriate empiric antibiotherapy should be commenced in patients presenting with neck mass, @PHENOTYPICFEATURE$, and lethargy in regions with @DISEASE$ epidemics.	has_symptom
+8023429ff33864defdd9294219f6544e969b145a	In conclusion @DISEASE$ should be considered in differential diagnosis of patients with @PHENOTYPICFEATURE$, sore throat and cervical lymphadenopaties.	has_symptom
+1b54ee48402fddeb76ca66ed9ee8535e65129b82	Also, the presenting symptoms of combined hepatocellular-@DISEASE$ patients were different from those of cholangiocarcinoma patients with the former a lower incidence of @PHENOTYPICFEATURE$, chills, jaundice and a higher incidence of fatigue and weakness.	has_symptom
+d9e120aa447583ca1e768451b4415c2e4427a2eb	Also, the presenting symptoms of combined hepatocellular-cholangiocarcinoma patients were different from those of @DISEASE$ patients with the former a lower incidence of @PHENOTYPICFEATURE$, chills, jaundice and a higher incidence of fatigue and weakness.	has_symptom
+b4b35cdcb0e9e116f20083ad8819c06a077d0d29	Acquired myasthenia gravis and @DISEASE$ were diagnosed in a 7-year-old English Setter referred because of forelimb lameness, exercise-induced weakness, and @PHENOTYPICFEATURE$.	has_symptom
+d35cf4eec2dac941bd2a80093d186e739152fd53	A 39-year-old man with @DISEASE$ presented with @PHENOTYPICFEATURE$ and abdominal pain.	has_symptom
+ac1120a9dbcb4d96baa6223d8a58f72c1a512750	A 39-year-old man with cholangiocarcinoma presented with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9f8b49bb2e8534c81639d8b2f1faca7c89a15326	A 39-year-old man with @DISEASE$ presented with fever and @PHENOTYPICFEATURE$.	false
+a05da8cb7a51760edd5d649d85ce08c366e1e91f	Persistent @PHENOTYPICFEATURE$ occurred after palliative radiofrequency thermal ablation (RFTA) of a solitary liver metastasis in a 62-year-old patient with @DISEASE$ treated by cholecystectomy, lymph-adenectomy, resection of the ductus hepatocholedochus and biliodigestive anastomosis.	has_symptom
+7076327d068225ecace91fed9df8b85750b05092	@DISEASE$ - a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+761612eb20813f1e02995904de8cf2a97ba49f21	@DISEASE$ (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	has_symptom
+2392603935ed5e71303df48ec33ede1b770c9a7d	@DISEASE$ (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, @PHENOTYPICFEATURE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+205b40a6fef5f58d84bbed0a20c3683fea8e4ac3	Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, @PHENOTYPICFEATURE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, @DISEASE$, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+a61f7bd0b9795c7caec37eb8dc9bd2bea35d23d2	Hajdu-Cheney syndrome (@DISEASE$) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, @PHENOTYPICFEATURE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+f15f3ddc609a08a428a2b2361bbb4e24727d2120	Hajdu-Cheney syndrome (HCS) is a rare @DISEASE$ characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, @PHENOTYPICFEATURE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+f7aed9dcf93454cebb765cefa128951562302aa1	Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @DISEASE$, @PHENOTYPICFEATURE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+fb5dbcc79e3ed47c4ea64a55efb673039ebff1cd	Seven patients (14 extremities) followed up with @DISEASE$ underwent distraction after a C-shaped osteotomy to simultaneously correct the @PHENOTYPICFEATURE$ and the angulation deformity of the bilateral thumbs.	has_symptom
+ad272fed4c7a81b1466f5a9dda249c760c0aecea	Acrocephalosyndactyl (@DISEASE$) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of @PHENOTYPICFEATURE$, syndactyly, and polydacytly.	has_symptom
+45741c6b2e748aaf5f010b32bb49552540baaa4e	Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of @DISEASE$, @PHENOTYPICFEATURE$, and polydacytly.	false
+05dba99d921a7a9b05b6f9c63e49ec83f3aa1851	Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural @DISEASE$ and hand and foot anomalies consisting principally of brachydactyly, @PHENOTYPICFEATURE$, and polydacytly.	false
+2331412454d44e13014668f7f2b735e66dae8bd9	Acrocephalosyndactyl (@DISEASE$) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, @PHENOTYPICFEATURE$, and polydacytly.	false
+68f5623db2b6e341d3836a1d075da62608da7fd7	[@DISEASE$, @PHENOTYPICFEATURE$, disautonomy and septic shock].	has_symptom
+46db892e9c069319bf2923b10ddf87bd1272aa41	The presentation of most patients with AL amyloidosis is usually related to congestive heart failure, nephrotic syndrome o @PHENOTYPICFEATURE$, but there are unusual features suggesting @DISEASE$ (GCA) and polymyalgia rheumatic (PMR).	has_symptom
+d71a29ac5e56f4a9b8b2788d23f127abf1cd4170	The presentation of most patients with AL amyloidosis is usually related to @PHENOTYPICFEATURE$, nephrotic syndrome o @DISEASE$, but there are unusual features suggesting giant cell arteritis (GCA) and polymyalgia rheumatic (PMR).	false
+058aa74559624aebd2920bc2934f7e84697ba71e	The presentation of most patients with @DISEASE$ is usually related to @PHENOTYPICFEATURE$, nephrotic syndrome o peripheral neuropathy, but there are unusual features suggesting giant cell arteritis (GCA) and polymyalgia rheumatic (PMR).	false
+ecd2c0d529b8fb8d11986acce0cb2d0a0fec6218	The presentation of most patients with AL amyloidosis is usually related to @PHENOTYPICFEATURE$, nephrotic syndrome o peripheral neuropathy, but there are unusual features suggesting @DISEASE$ (GCA) and polymyalgia rheumatic (PMR).	false
+c3395c51bd90b4cb53f30aece791a5007a8514b0	We report two cases of @DISEASE$ revealed by @PHENOTYPICFEATURE$.	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+750593471f8c378cf216e432b870ce865d5f7907	[C5-C6 @PHENOTYPICFEATURE$ disclosing @DISEASE$].	has_symptom
+484efcddc6e722d31a002dc8a8c1ac2225042b88	Lower extremity @PHENOTYPICFEATURE$ and ischemic ulcers associated with @DISEASE$.	has_symptom
+2099687f5bfa02ba899d932ec2f8e54b8240f628	Peripheral nerves are rarely involved in @DISEASE$, and when @PHENOTYPICFEATURE$ predominates in the clinical complex it is sometimes a source of diagnostic errors.	has_symptom
+a256bab71df8f2f0153d6419cde71c9bbf09dcd8	Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, @PHENOTYPICFEATURE$, mild mental retardation, and facial anomalies consistent with the diagnosis of @DISEASE$.	has_symptom
+38356401f6431701944661fd1082db7c1f2fdff4	Severe lymphedema, intestinal lymphangiectasia, @PHENOTYPICFEATURE$ and mild mental retardation: further case of @DISEASE$ with a severe phenotype.	has_symptom
+1222d697a40ec79e0845ccf8b459b728efeb988b	@DISEASE$ is associated with other systemic malformations, including @PHENOTYPICFEATURE$.	has_symptom
+7302755a373a5201df3b2bcbd91710bef4dfb6f1	It is clear that a significant number of patients with the @DISEASE$ are @PHENOTYPICFEATURE$.	has_symptom
+7aedc4a02783764f3ae393ecd8536282df2edfd6	@PHENOTYPICFEATURE$, considered as common in @DISEASE$ could be in part due to associated brain abnormalities.	has_symptom
+ad6ffa001b867e0c4a0afc093d85674747e2df62	@DISEASE$ (acrocephalosyndactyly type 1) includes craniofacial deformities, malformations of the extremities and the central nervous system, and often @PHENOTYPICFEATURE$.	has_symptom
+9417e598f01b8efabbfac01db44b8f40e021b0bc	@DISEASE$ is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of @PHENOTYPICFEATURE$ in patients with Apert syndrome.	has_symptom
+b786da59a245af4f7d01047f3fd65754e8211e2f	Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+5638211e888139eb334dcfb95796826a0f3faf77	@DISEASE$ is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with @PHENOTYPICFEATURE$ usually present.	has_symptom
+bbbc79fa5834c715da809a82378d171bf71d51b6	@DISEASE$ is characterized by craniosynostosis, symmetric @PHENOTYPICFEATURE$ and other systemic malformations, with mental retardation usually present.	false
+db53ec1b6cc3dbcd9b203f718ee5828c2cfb63e9	Apert syndrome is characterized by craniosynostosis, symmetric @PHENOTYPICFEATURE$ and other systemic malformations, with @DISEASE$ usually present.	false
+331f821d8fa627ff6f3a68c8bc3e447e19afe87b	Apert syndrome is characterized by @DISEASE$, symmetric @PHENOTYPICFEATURE$ and other systemic malformations, with mental retardation usually present.	false
+7e40d055cf4e9c0b80210265af56c89efd977cc6	Letter: @DISEASE$ does not equal @PHENOTYPICFEATURE$.	has_symptom
+38d636d70bf3c0fd21dc56a43dd01bb8969f2893	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and @PHENOTYPICFEATURE$.	has_symptom
+d056e5345afa512485abe0052bbb1cb00a1e6b40	@DISEASE$ patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and mental deficiency.	false
+ddd54e114c3c97713249e38dbbe93d8825896369	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, @PHENOTYPICFEATURE$, and mental deficiency.	false
+4d72391a1e6785271d2dcadbebcb0cf84fd40e71	Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a68665b7cb84bab62585a6bb4f798e5e6ae8d631	Apert syndrome patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$.	false
+a02aee7ae150a1fa7dbfed7941566862b1b32cd0	In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and @DISEASE$ carries the higher risk of @PHENOTYPICFEATURE$.	has_symptom
+c8cf25adeb52b678065518c16f0ddbca427815cb	Children with @DISEASE$ continue to face erroneous assumptions of @PHENOTYPICFEATURE$ and social stigmatization because of their appearance.	has_symptom
+d2cb879236cb07096ab67a7f993835fb6b906446	Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$ and goiter, and DFNB4, a type of @DISEASE$ in which, by definition, affected persons do not have thyromegaly.	has_symptom
+dfecbf74c07318e43fb653bb8f74e576d046b5a5	ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent @PHENOTYPICFEATURE$, gamma-hydroxybutyric aciduria, type II Hyperprolinemia, @DISEASE$ including cancer and Alzheimer's disease.	has_symptom
+2629522e242d76d7c5445606810972afb8453e05	The only patient with @DISEASE$ type Ia (PHP-Ia) presented clinically with latent tetany, mental retardation, round face, @PHENOTYPICFEATURE$, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia.	has_symptom
+2a41ec39ae0b46939796201c6ef019da76d74c39	The only patient with pseudohypoparathyroidism type Ia (PHP-Ia) presented clinically with latent tetany, @PHENOTYPICFEATURE$, round face, @DISEASE$, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia.	false
+8c91b2fe043f6134a6d6286cd24403ed5ee3dc4e	The only patient with @DISEASE$ type Ia (PHP-Ia) presented clinically with latent tetany, @PHENOTYPICFEATURE$, round face, short stature, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia.	false
+edfbbbc78b01e51c56cfdcbbdf89a81ff3580168	While loss-of-function mutations in Gsalpha are invariably associated with the @PHENOTYPICFEATURE$ and brachydactyly of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of @DISEASE$ type Ia (PHP-Ia) is much more variable.	has_symptom
+649190f35b52aeca81dfb8953b9325952660bc50	While loss-of-function mutations in Gsalpha are invariably associated with the short stature and @PHENOTYPICFEATURE$ of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of @DISEASE$ type Ia (PHP-Ia) is much more variable.	false
+8f7a4c1e888a3e54b6fce2d5c5a1b1fffa9e89e4	While loss-of-function mutations in Gsalpha are invariably associated with the short stature and @PHENOTYPICFEATURE$ of @DISEASE$ (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of pseudohypoparathyroidism type Ia (PHP-Ia) is much more variable.	false
+2b889c0c8015b8e9e6a34cf609604e221a2f9084	While loss-of-function mutations in Gsalpha are invariably associated with the @DISEASE$ and @PHENOTYPICFEATURE$ of Albright hereditary osteodystrophy (AHO), the association with hormone resistance (to parathyroid hormone and thyrotropin) typical of pseudohypoparathyroidism type Ia (PHP-Ia) is much more variable.	false
+c24a09a691e9618a9d109b9f6c5c3d2e8199120c	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	has_symptom
+1b34e46597bdfc01e3c0d5985d3fa641035a99b3	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of @DISEASE$ (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+3e4fba8764b310271f1c3266995f539c661288d8	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @DISEASE$, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+1dfa244747b9a75b5e28e033d6e9e464afd52457	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+32942f5b3a760da09088596d097592cef156ee49	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical @DISEASE$ caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+d7e380e0b32a02e719ffcf8d0b40b42ccba73742	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+636284a43bfb04ed8ec6c6018ac4349ff02f4bc8	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of @DISEASE$ (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+f307bd2f6395bc571a50ecc556ece7f151d7201e	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @DISEASE$, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+f9a6f71a73017553616a4a4a722cc5d11e80eada	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical @DISEASE$ caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+985e49678789af4564c0eca32ba27b2fc0aa4cfc	Pseudohypoparathyroidism Ia (PHP-Ia), is an @DISEASE$ with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+f90fa1078422b2b76d3c523ec1d5231b03c2b44a	Pseudohypoparathyroidism Ia (PHP-Ia), is an @DISEASE$ with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	false
+c0b57a70390d9a483ef292d22a58704580f799f0	@DISEASE$ type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including @PHENOTYPICFEATURE$ and brachydactyly, termed Albright hereditary osteodystrophy (AHO).	has_symptom
+09dbcbd1023fbcca6c5d18560fae1df0c78c92a0	@DISEASE$ type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and @PHENOTYPICFEATURE$, termed Albright hereditary osteodystrophy (AHO).	false
+1e22a2f4a8128114050dd6e120adc1d6bd274bcc	Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including @DISEASE$ and @PHENOTYPICFEATURE$, termed Albright hereditary osteodystrophy (AHO).	false
+d6cdf265b4c94c6e1a61c05588370b47bcb568bc	Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones that work via cAMP such as PTH and TSH, accompanied by typical skeletal features including short stature and @PHENOTYPICFEATURE$, termed @DISEASE$ (AHO).	false
+b011e7076ea310681f20a48c053049f88acd058b	Recently, we and our collaborators have found that the @DISEASE$ (ALPS), an inherited disease of children comprising marked lymphoid hyperplasia and @PHENOTYPICFEATURE$ manifestations, is due to abnormalities in the CD95 gene that cause defective lymphocyte apoptosis.	has_symptom
+82f323eddd9fe4ff4cf4dc41a50a3d563049f982	Recently, we and our collaborators have found that the autoimmune/lymphoproliferative syndrome (@DISEASE$), an inherited disease of children comprising marked lymphoid hyperplasia and @PHENOTYPICFEATURE$ manifestations, is due to abnormalities in the CD95 gene that cause defective lymphocyte apoptosis.	has_symptom
+b41f8773d26c81fc76186df23780a7ba7f753e6f	@DISEASE$ (USH1) patients suffer from sensorineuronal deafness, vestibular dysfunction, and @PHENOTYPICFEATURE$.	has_symptom
+5f4ba774f43c19c698a93f86be5c609f7e4c49ac	@DISEASE$ (USH1) patients suffer from sensorineuronal @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment.	false
+32ccef556c0eaed850a03b7b4f805609fedad12d	@DISEASE$ (USH1) patients suffer from sensorineuronal deafness, @PHENOTYPICFEATURE$, and visual impairment.	false
+9e7ab968f22d3090e1ef9cd80fcce9021374ff6e	Usher syndrome type 1 (USH1) patients suffer from sensorineuronal @PHENOTYPICFEATURE$, vestibular dysfunction, and @DISEASE$.	false
+ae449f0ddbca11ee6b986d27ae1cdbf25c878e42	Usher syndrome type 1 (USH1) patients suffer from sensorineuronal deafness, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c0245ab5ac687f6418e49a66af8682c453e32367	To evaluate @PHENOTYPICFEATURE$ in Finnish Usher syndrome type 3 (USH3) and compare this with visual impairment in @DISEASE$b (USH1b) and 2a (USH2a).	has_symptom
+94c1621e84bbe5c7ce10f1d4b28a94a8f80a7ebe	To evaluate visual impairment in Finnish Usher syndrome type 3 (USH3) and compare this with @PHENOTYPICFEATURE$ in @DISEASE$b (USH1b) and 2a (USH2a).	has_symptom
+6f55adf88def0232a7fb69c4c597f0265102a510	We report a 21-year-old male with type IV @DISEASE$ presenting with @PHENOTYPICFEATURE$ and renal failure, who was diagnosed to have enteric fever- related glomerulonephritis which was successfully treated.	has_symptom
+85ff08da5213d78c96dfa5a55aa713d14c809d8a	We report a 21-year-old male with type IV Takayasu arteritis presenting with @DISEASE$ and @PHENOTYPICFEATURE$, who was diagnosed to have enteric fever- related glomerulonephritis which was successfully treated.	false
+dcc242fdde3ce106637669f782de682edc496a99	We report a 21-year-old male with type IV Takayasu arteritis presenting with fever and @PHENOTYPICFEATURE$, who was diagnosed to have enteric fever- related @DISEASE$ which was successfully treated.	false
+0bcd2baec0a9d6317b22ddbcf3ac0a1b80c4d3df	We report a 21-year-old male with type IV @DISEASE$ presenting with fever and @PHENOTYPICFEATURE$, who was diagnosed to have enteric fever- related glomerulonephritis which was successfully treated.	false
+4068a3d4c9a591a0637a07e49edd1725ad72c843	A 51-year-old woman, who had both aortitis syndrome (@DISEASE$) and IgA nephropathy, presented with hypertension, @PHENOTYPICFEATURE$, a high erythrocyte sedimentation rate, high C-reactive protein and serum IgG levels, proteinuria, and renal dysfunction.	has_symptom
+c0d6274d3039e602c9384f55d560efc119ee596a	@DISEASE$ is an important differential diagnosis in young female patients presenting with @PHENOTYPICFEATURE$, fatigue, hypertension, and/or neck pain.	has_symptom
+c282abc58581b02e20d8d565a62987511128e0a8	HTN, rather than @PHENOTYPICFEATURE$, is the leading reason for patients with @DISEASE$ to see a doctor in China.	has_symptom
+37f9b8a31cdd011451c3c0b8ca3d7c760da3cb60	Generalized acute subcutaneous @PHENOTYPICFEATURE$ as a rare cutaneous manifestation of severe @DISEASE$.	has_symptom
+777a911d4577e88d576949162cb65b13cf8ffb57	Increased awareness of papulosquamous and @PHENOTYPICFEATURE$ lesions of @DISEASE$ can help direct patient care.	has_symptom
+50108e68e5ab8e5543cb5db777029a2963c0c079	Clinical features included hepatitis, @PHENOTYPICFEATURE$, and a @DISEASE$-like syndrome.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+61249205e511990a8ba39187a1df49b65b84e271	@DISEASE$ associated with generalized subcutaneous @PHENOTYPICFEATURE$ and Evans syndrome.	has_symptom
+8061a6995932de82fdfcb70bee874a14d9faeaa5	Increasing recognition of @DISEASE$ with subcutaneous @PHENOTYPICFEATURE$ - is this a poorer prognostic marker?	has_symptom
+13713ed97463672acde4e0c56a13b95caae8114d	Although uncommon, confluent parakeratosis and dermal @PHENOTYPICFEATURE$ can be manifestations of @DISEASE$.	has_symptom
+5d0c2172ded8b5cd4c8297eb8ac30dc3e2c563f9	@DISEASE$ presenting with severe subcutaneous @PHENOTYPICFEATURE$: five additional cases and review of the literature.	has_symptom
+9b34ba38ae84fa9ae400483dd19290b8073badd7	[Trunk and abdominal wall @PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+39d8e3a53437a1cf41facb90eebce1e2b6b8ca63	Generalized subcutaneous @PHENOTYPICFEATURE$ as a rare manifestation of @DISEASE$: clinical lesson from a rare feature.	has_symptom
+e7a3d0a181228dbaa3f93f379972db9c21598836	This rationale supports screening of preschool children for @PHENOTYPICFEATURE$ or primary @DISEASE$ or disorder, which needs to be integrated into routine developmental surveillance practices of clinicians caring for children.	has_symptom
+8e5792d7c558782dce5dfb7ca560b0e35f941700	@PHENOTYPICFEATURE$ in @DISEASE$ (congenital absence of hypoplasia of the thymus).	has_symptom
+6e677524e76ec70b1d4235a74b9943c46f2fa632	To investigate the role of FAK in NCC morphogenesis, we deleted it in murine NCCs using Wnt1cre, yielding craniofacial and @PHENOTYPICFEATURE$ resembling those observed in individuals with @DISEASE$.	has_symptom
+fc9c21aa2fc55c5ff38cbe27ac41b68ca7a6baf5	Typical magnetic resonance imaging findings in @DISEASE$ patients are cobblestone lissencephaly and @PHENOTYPICFEATURE$ lesions.	has_symptom
+38267d51835dd3a0a550aa85da89c2a186b00dc3	@DISEASE$ (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and @PHENOTYPICFEATURE$, and eye involvement.	has_symptom
+2b712d1e3e0a68f62e36f23e5b18e956730cea69	Lowry-Wood syndrome (LWS) is a @PHENOTYPICFEATURE$ characterized by @DISEASE$ associated with microcephaly, developmental delay and intellectual disability, and eye involvement.	false
+4d33d4155d1a1df0bde2085638baeb6f0f7edb60	@DISEASE$ (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with @PHENOTYPICFEATURE$, developmental delay and intellectual disability, and eye involvement.	false
+b18e18db287bbf9d4f45cf9defca05779b8aed52	Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with @PHENOTYPICFEATURE$, developmental delay and @DISEASE$, and eye involvement.	false
+93cfb788334d9c466e0cc62c61371b96ff1f46f5	Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by @DISEASE$ associated with @PHENOTYPICFEATURE$, developmental delay and intellectual disability, and eye involvement.	false
+c21333ca623ea0f82648d9b4dba4804e02f33dac	Lowry-Wood syndrome (LWS) is a @PHENOTYPICFEATURE$ characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and @DISEASE$, and eye involvement.	false
+78e3526578d2e82c97cb464154621688bf514392	@DISEASE$ (LWS) is a @PHENOTYPICFEATURE$ characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement.	false
+a5aec2b0ee799112faf0a6ac22b1a5686f5d4efe	Syndrome of short stature, microcephaly, @PHENOTYPICFEATURE$, and multiple epiphyseal dysplasia--@DISEASE$.	has_symptom
+95d3e3e9ac60e5a14f9f22a36edc8ba059af86d3	Syndrome of @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.	false
+55bddc1bd6b20d746a7b590cbbab4a59fb7c2b91	Syndrome of short stature, @PHENOTYPICFEATURE$, @DISEASE$, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.	false
+391a10f9c24f449269cbb70da4e03fdd310136c7	Syndrome of @PHENOTYPICFEATURE$, microcephaly, mental retardation, and multiple epiphyseal dysplasia--@DISEASE$.	false
+a67149ec945989a28db776cf7b5277f0f686bf88	Syndrome of short stature, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$--Lowry-Wood syndrome.	false
+85aa925d48ff2fc900ea8229ce7d185ce4120a8e	Syndrome of @PHENOTYPICFEATURE$, microcephaly, mental retardation, and @DISEASE$--Lowry-Wood syndrome.	false
+83559032ea7b1fa1f547f6f1a40a637e4836746a	Syndrome of short stature, @PHENOTYPICFEATURE$, mental retardation, and multiple epiphyseal dysplasia--@DISEASE$.	false
+5b58c9560ffabe9518f6b68032eea066d9013a68	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	has_symptom
+10b1962e6a31bb489d9665d41c4f0ed9ba86cf60	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, tapetoretinal degeneration, and mental retardation.	false
+400291f3685cc728941149c48be32ca7b941792a	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: @PHENOTYPICFEATURE$, short stature, @DISEASE$, tapetoretinal degeneration, and mental retardation.	false
+d1de0a6bfbd134cb8be15dbd578de2bc843f3eba	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: @PHENOTYPICFEATURE$, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	false
+284b4121e9543a58b6c44733614de4dec4ad92fe	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: microcephaly, @PHENOTYPICFEATURE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	false
+da995fc3352f94321bd05bf885434666bf152840	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: @PHENOTYPICFEATURE$, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @DISEASE$.	false
+70e80f4dabef96583be86d406a566570dda93287	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, @PHENOTYPICFEATURE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @DISEASE$.	false
+33f81b626b54b9cce5f60691ba98bc5fbdfdb331	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, microcephaly, short stature, and @PHENOTYPICFEATURE$).	has_symptom
+52141c0eb36abcbffebf3cf44d378e47422ee6e2	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, @PHENOTYPICFEATURE$, short stature, and mental retardation).	false
+9f3b6ae9176d02af644ca752d8c9bbcc271e1ea7	This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+505a7e2c189f1e0a22fe56076f87fdf12af1819a	This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, @PHENOTYPICFEATURE$, short stature, and @DISEASE$).	false
+e1aa37fe68a6f4b8e2c80d52941f09034a8cb20e	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, microcephaly, @PHENOTYPICFEATURE$, and mental retardation).	false
+ceb3a894bc07fc90756c5270b2a642dfddb4d6db	@DISEASE$ (DHS) was shown to belong to a pleiotropic syndrome: DHS + fetal @PHENOTYPICFEATURE$ + pseudohyperkalemia, which maps 16q23-24.	has_symptom
+48e20b5f2a5afc9ab0233afce85febfc13764bc4	@DISEASE$, the most common form of hereditary stomatocytosis, is more heterogeneous than previously thought and includes kindreds showing pseudohyperkalemia or perinatal @PHENOTYPICFEATURE$, or both.	has_symptom
+6465d9b7ec5f8ddcbbbbfc5a57d1f318cf554c60	Pleiotropic syndrome of @DISEASE$, pseudohyperkalemia, and perinatal @PHENOTYPICFEATURE$ maps to 16q23-q24.	has_symptom
+5376a585ea8d0ea216b6ca34fc001d86cbb073f7	The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, @DISEASE$, autosomal dominant @PHENOTYPICFEATURE$ syndrome type 7 and Denys-Drash syndrome.	has_symptom
+725fa3ef6de75af5118c164ba068e709e582f0ee	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, @DISEASE$, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+5fc924d06a38452c6a06c09418db5fb8256d52fb	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency @DISEASE$, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+b02528e55728a90912affb874abc9086faa4f42b	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ @DISEASE$, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+ba66594ff8ecafb29087b96645cd1b764eafa3f6	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, @DISEASE$, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+b8021baa1bca8bd87ed4293cc514800114cddf65	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and @DISEASE$.	false
+81c54301762021ee5538cfa6bec2ad5bc08a6ad6	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability @DISEASE$ type 7 and Denys-Drash syndrome.	false
+7df93ad1f87fb0c6e4aa7fe985ac8036fa02b102	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, @DISEASE$, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+e229a0247ff43260463de7de922853c839a73fc6	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant @DISEASE$ syndrome type 7 and Denys-Drash syndrome.	false
+d486d9b363de54f7454eddd1421e1cc2cbf9d9e0	The diagnoses were @DISEASE$, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+8402e0b41bfedbc90e54a8e2041effdd412bd46d	Partial duplications involving the long arm of the X chromosome are associated with @PHENOTYPICFEATURE$, short stature, microcephaly, @DISEASE$ and a wide range of physical findings.	has_symptom
+f1e8e0e741e0bb2dd3377472aecc0b65078c4df8	Partial duplications involving the long arm of the X chromosome are associated with @DISEASE$, short stature, @PHENOTYPICFEATURE$, hypopituitarism and a wide range of physical findings.	false
+921e1cb6f9db8e26ebda19a2342d83ae9e516edd	Partial duplications involving the long arm of the X chromosome are associated with mental retardation, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$ and a wide range of physical findings.	false
+765b10bb018edc52431061617b93af1941d28430	Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, @PHENOTYPICFEATURE$, @DISEASE$ and a wide range of physical findings.	false
+bab6c4b037d54466dd04750672a4525e8c1f0c9d	Partial duplications involving the long arm of the X chromosome are associated with @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, hypopituitarism and a wide range of physical findings.	false
+f34737b38d4b6c53f8fad0bd4591cf0125649d3a	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss and vesico-ureteral reflux.	has_symptom
+af6876bc2a4446fe3a0c3711a78ca63f5b2cbe45	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, @DISEASE$, hypopituitarism, mental retardation, @PHENOTYPICFEATURE$ and vesico-ureteral reflux.	false
+79577de002ec89e6d013157092c807785f3e255c	In addition to the characteristic @DISEASE$ features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, @PHENOTYPICFEATURE$ and vesico-ureteral reflux.	false
+43d4177f8ddb3d921b8ec1e0b6e3d1016e1f6ff5	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$ and vesico-ureteral reflux.	false
+4fbdafbd73dbdd9b1d11a15e418baf09ad18fb08	In addition to the characteristic facial features, associated conditions include @DISEASE$, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, @PHENOTYPICFEATURE$ and vesico-ureteral reflux.	false
+a0ed6f74b39b17e4d95f7b5cf30e69773fe52737	In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, @DISEASE$, @PHENOTYPICFEATURE$ and vesico-ureteral reflux.	false
+09ef51bc4a4502f1a38a29e8c117afb440421ae9	Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, @PHENOTYPICFEATURE$, dysmorphic features and @DISEASE$, in particular growth hormone deficiency.	has_symptom
+0f2ed8be7e5c511e44c2d4db7ab2a49ac624695e	Affected members exhibit variable degrees of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6a6a509b87b304b81de0bdaa48666914b0581aa4	SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+654b6bd523024a9984babc33a9762b62ab972f58	The causes of HH included @DISEASE$ (n = 3), Prader-Willi syndrome, chromosomal aberration, @PHENOTYPICFEATURE$ syndrome with ataxia, and idiopathic causes (n = 2).	has_symptom
+eeaac911c0c03a7b0a3e2ee81b5cbb724ed3a5a0	The causes of HH included @DISEASE$ (n = 3), Prader-Willi syndrome, chromosomal aberration, intellectual disability syndrome with @PHENOTYPICFEATURE$, and idiopathic causes (n = 2).	false
+c2b58f9a2ab40721948b9ae078ce654ced035c5f	The causes of HH included hypopituitarism (n = 3), @DISEASE$, chromosomal aberration, intellectual disability syndrome with @PHENOTYPICFEATURE$, and idiopathic causes (n = 2).	false
+cc5fc7e1ebefb6861969f941ad18d63c0711fcdd	The causes of HH included hypopituitarism (n = 3), Prader-Willi syndrome, chromosomal aberration, @DISEASE$ syndrome with @PHENOTYPICFEATURE$, and idiopathic causes (n = 2).	false
+a8ae2e6820de2bc4d6d9c32a8b441ce77234e4b4	Duplications and polyalanine expansions within the transcription factor SOX3 have recently been described in association with infundibular hypoplasia, hypopituitarism and variable @PHENOTYPICFEATURE$, whilst mutations in SOX2 are associated with variable @DISEASE$ in association with learning difficulties, oesophageal atresia and anophthalmia.	has_symptom
+2afb447eb0551dda33831686d0a57d8a31cddb0c	Duplications and polyalanine expansions within the transcription factor SOX3 have recently been described in association with infundibular hypoplasia, @DISEASE$ and variable @PHENOTYPICFEATURE$, whilst mutations in SOX2 are associated with variable hypopituitarism in association with learning difficulties, oesophageal atresia and anophthalmia.	has_symptom
+ff947d53767c2a1bb495baf3b6ada5860be2914c	Duplications of Xq26-27 have been implicated in the etiology of X-linked @DISEASE$ associated with @PHENOTYPICFEATURE$ (MR).	has_symptom
+6f2612f0b14185bfe991ee631de9a2c527ec8709	In humans, mutations affecting the X-linked transcription factor SOX3 are associated with @DISEASE$ and @PHENOTYPICFEATURE$, but nothing is known of their etiology.	has_symptom
+fcdb35714850d31aff3e121356a3d8ca26045890	In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ae18b3437afe0a6342eeb68e86e9c7575ebf7e5b	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the @DISEASE$, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and @PHENOTYPICFEATURE$.	has_symptom
+9f5cea753fd994cc25641cd70ed9e56b6ca23649	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the @DISEASE$, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+563c150ac052e3815953b723930873f0a5fda6b9	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with @DISEASE$ and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+1d8631cef58d9d3683c15de2d41774e523cce50e	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor @DISEASE$, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+33e14f0e9361ba22bcba95cb0dec21a73414bc96	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked @DISEASE$ (CMTX4) with axonal sensorimotor neuropathy, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+bf1912cde9ca6b5efb61384900f0a5169488bbf1	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ef21c11c57be1e7a9e20f1d6c368d28947ac6e6c	@DISEASE$ (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and @PHENOTYPICFEATURE$, is a rare subtype of Charcot-Marie-Tooth disease.	has_symptom
+c9919b9b12a613e752b70834b847dc6663a5ec1e	X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with @PHENOTYPICFEATURE$ and @DISEASE$, is a rare subtype of Charcot-Marie-Tooth disease.	false
+0c1da550726926579272bd7ba4533d66b83353eb	@DISEASE$ (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with @PHENOTYPICFEATURE$ and cognitive impairment, is a rare subtype of Charcot-Marie-Tooth disease.	false
+4e9522e1816d4ad836c6d591954f5a2802a7b3e1	X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with @PHENOTYPICFEATURE$ and cognitive impairment, is a rare subtype of @DISEASE$.	false
+34ab993e0c2ba8c24bd45a08396070b8e3344b10	Of the laboratory-confirmed @DISEASE$ patients, 83.3% of children had congenital heart disease (CHD), 75% had hearing impairment, 66.7% had congenital cataract and 50% had @PHENOTYPICFEATURE$.	has_symptom
+e421b1532a8488dc3a86b889f4b7fb29150e118f	Of the laboratory-confirmed @DISEASE$ patients, 83.3% of children had congenital heart disease (CHD), 75% had @PHENOTYPICFEATURE$, 66.7% had congenital cataract and 50% had microcephaly.	false
+5410fbdd6cb5ab1cf69f529ec794290181cf9289	Of the laboratory-confirmed CRS patients, 83.3% of children had @DISEASE$ (CHD), 75% had @PHENOTYPICFEATURE$, 66.7% had congenital cataract and 50% had microcephaly.	false
+80a59278233a4159e9d631a801d2f821629ddf70	Of the laboratory-confirmed CRS patients, 83.3% of children had congenital heart disease (@DISEASE$), 75% had @PHENOTYPICFEATURE$, 66.7% had congenital cataract and 50% had microcephaly.	false
+e5d96feaa278bf0f1de3361bfe7f4ffa2a7ce96d	Of the laboratory-confirmed CRS patients, 83.3% of children had congenital heart disease (CHD), 75% had @PHENOTYPICFEATURE$, 66.7% had congenital cataract and 50% had @DISEASE$.	false
+cbbc24a3c515343ed7147a6760fe8628b95942b0	Of the laboratory-confirmed CRS patients, 83.3% of children had congenital heart disease (CHD), 75% had @PHENOTYPICFEATURE$, 66.7% had congenital @DISEASE$ and 50% had microcephaly.	false
+b24250c19f423a316d9a1c6c3e2514540077712a	A 10-month-old child affected by @DISEASE$ with congenital hearth disease, perceptive deafness and @PHENOTYPICFEATURE$, was admitted because of vomiting and failure to thrive.	has_symptom
+c1663b0f759f6b2f1dc380a8239c50cec76b8b3d	A 10-month-old child affected by CRS with congenital hearth disease, perceptive deafness and @DISEASE$, was admitted because of @PHENOTYPICFEATURE$ and failure to thrive.	false
+680b0cfabceaa10caeb4fab0fcfb7ec636a9312b	A 10-month-old child affected by @DISEASE$ with congenital hearth disease, perceptive @PHENOTYPICFEATURE$ and microcephaly, was admitted because of vomiting and failure to thrive.	false
+e28c17a8d1af4ab44e15e56afeb276f06e3c63aa	A 10-month-old child affected by @DISEASE$ with congenital hearth disease, perceptive deafness and microcephaly, was admitted because of vomiting and @PHENOTYPICFEATURE$.	false
+73210bc72d30e2e25e65ab484df3e19761b3d1a2	A 10-month-old child affected by @DISEASE$ with congenital hearth disease, perceptive deafness and microcephaly, was admitted because of @PHENOTYPICFEATURE$ and failure to thrive.	false
+bf4e9d886cc2adb22596886771a4fc69abfca7c5	A 10-month-old child affected by CRS with congenital hearth disease, perceptive @PHENOTYPICFEATURE$ and @DISEASE$, was admitted because of vomiting and failure to thrive.	false
+9817be41de099bd6fde2985ebb1a18fe579995b1	A 10-month-old child affected by CRS with congenital hearth disease, perceptive deafness and @DISEASE$, was admitted because of vomiting and @PHENOTYPICFEATURE$.	false
+b2d6377dec173f585af7f30eabb2a654b9f27aa0	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, deafness, congenital heart defects, dermal erythropoiesis, @PHENOTYPICFEATURE$, meningoencephalitis, and other defects associated with @DISEASE$.	has_symptom
+3ce97be1c3ee1bf2a053fe394cea555c4505b384	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with @DISEASE$ were reviewed; we looked for cataracts, deafness, congenital heart defects, dermal erythropoiesis, @PHENOTYPICFEATURE$, meningoencephalitis, and other defects associated with CRS.	has_symptom
+f20c1c5d4fbf2bfacb177be15c284790399c2b92	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, @PHENOTYPICFEATURE$, congenital heart defects, dermal erythropoiesis, microcephaly, meningoencephalitis, and other defects associated with @DISEASE$.	false
+9bbfe4b0e9bb98ecd6b7957a6af3e384ff1cadc1	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for @PHENOTYPICFEATURE$, deafness, congenital heart defects, dermal erythropoiesis, @DISEASE$, meningoencephalitis, and other defects associated with CRS.	false
+587c37a6ca309e1f24873c0b40a6d244c0292371	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, @PHENOTYPICFEATURE$, congenital heart defects, dermal erythropoiesis, microcephaly, @DISEASE$, and other defects associated with CRS.	false
+4ce7a911c39290e313879d499c7cf9318a980844	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with @DISEASE$ were reviewed; we looked for cataracts, deafness, @PHENOTYPICFEATURE$, dermal erythropoiesis, microcephaly, meningoencephalitis, and other defects associated with CRS.	false
+d07ca556abed7bd7727e051d0f467ded3205e88a	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, deafness, @PHENOTYPICFEATURE$, dermal erythropoiesis, microcephaly, @DISEASE$, and other defects associated with CRS.	false
+071d9b834bb59eefa7c562d4fe630b7093b4febe	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for @PHENOTYPICFEATURE$, deafness, congenital heart defects, dermal erythropoiesis, microcephaly, meningoencephalitis, and other defects associated with @DISEASE$.	false
+63b00d395eec9c88d02830812200b86bd2c0bfb5	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with @DISEASE$ were reviewed; we looked for @PHENOTYPICFEATURE$, deafness, congenital heart defects, dermal erythropoiesis, microcephaly, meningoencephalitis, and other defects associated with CRS.	false
+22de56746ec823711348c9317969795c12e7a713	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, @PHENOTYPICFEATURE$, congenital heart defects, dermal erythropoiesis, @DISEASE$, meningoencephalitis, and other defects associated with CRS.	false
+87c813e4b26cdba3939be3c10ae164789fd5fef9	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, deafness, @PHENOTYPICFEATURE$, dermal erythropoiesis, @DISEASE$, meningoencephalitis, and other defects associated with CRS.	false
+353d03f43639d33bf5c3aacf94dca6c9eb017dd8	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for @PHENOTYPICFEATURE$, deafness, congenital heart defects, dermal erythropoiesis, microcephaly, @DISEASE$, and other defects associated with CRS.	false
+88275701b4b5f633497fd60dc117cc6b24eba9c8	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with @DISEASE$ were reviewed; we looked for cataracts, @PHENOTYPICFEATURE$, congenital heart defects, dermal erythropoiesis, microcephaly, meningoencephalitis, and other defects associated with CRS.	false
+3633d9b7462b17a7faf65ebbc8c79d9204dc2730	Hospital charts of infants <1 year old discharged between January 1, 1994 and December 31, 1996 with International Classification of Diseases, Ninth Revision (ICD-9) discharge codes consistent with CRS were reviewed; we looked for cataracts, deafness, @PHENOTYPICFEATURE$, dermal erythropoiesis, microcephaly, meningoencephalitis, and other defects associated with @DISEASE$.	false
+52124f412d0ec18a9cc1dcbf3d65305e3f2a38da	The most common defects among laboratory-confirmed @DISEASE$ cases were hearing impairment (100%), congenital cataracts (72.7%), @PHENOTYPICFEATURE$ (72.7%), and congenital heart defects (45.5%).	has_symptom
+605a19fbe3cfc9b089bcfbba250841e56a0b7f4c	The most common defects among laboratory-confirmed CRS cases were @PHENOTYPICFEATURE$ (100%), congenital @DISEASE$ (72.7%), microcephaly (72.7%), and congenital heart defects (45.5%).	false
+0f72c141b3d4b77571fba6e853cd23ba734daf1c	The most common defects among laboratory-confirmed @DISEASE$ cases were hearing impairment (100%), congenital cataracts (72.7%), microcephaly (72.7%), and @PHENOTYPICFEATURE$ (45.5%).	false
+01e5d01c4e3d31acd0f887f3c8e55f8b1731c6aa	The most common defects among laboratory-confirmed CRS cases were @PHENOTYPICFEATURE$ (100%), congenital cataracts (72.7%), @DISEASE$ (72.7%), and congenital heart defects (45.5%).	false
+4e2b766915b4c3d1dc9d7aed16ef459cf5e83643	The most common defects among laboratory-confirmed @DISEASE$ cases were @PHENOTYPICFEATURE$ (100%), congenital cataracts (72.7%), microcephaly (72.7%), and congenital heart defects (45.5%).	false
+acc1b8ea010d8b1a69bb4701db768a58bb5eb6d5	The most common defects among laboratory-confirmed CRS cases were hearing impairment (100%), congenital @DISEASE$ (72.7%), microcephaly (72.7%), and @PHENOTYPICFEATURE$ (45.5%).	false
+ceef17dbcd6dad066c96f08aff240424b05c1927	The most common defects among laboratory-confirmed CRS cases were hearing impairment (100%), congenital cataracts (72.7%), @DISEASE$ (72.7%), and @PHENOTYPICFEATURE$ (45.5%).	false
+acad502fcde92b5e38936b7182942047a5749af2	If the fraction of Zika virus infections among a total of seronegative dengue-like illness cases is 30%, the risk of @PHENOTYPICFEATURE$ following infection during the first trimester was estimated at 46.7% (95% CI: 9.1, 84.2), comparable to the risk of @DISEASE$.	has_symptom
+32e0be3ff57cbd7078f32ea471aeccc626f5aec4	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, @PHENOTYPICFEATURE$ and cerebral calcifications) and @DISEASE$ (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	has_symptom
+595a5f2d488ae1353297c4645ae92b02a4574bb9	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, @DISEASE$ and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+7793078e3bd0a792b62a5597204bb96d71ea681d	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (@DISEASE$, congenital heart disease, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+1e6a79cd2873717ff294e0df671b7aa22b8e580c	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and @PHENOTYPICFEATURE$) and congenital rubella syndrome (intrauterine growth retardation, @DISEASE$, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+4dba3d1b030233f3c6826ccf918dfc6cd75755f6	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (@DISEASE$, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+5344f9070c0ef7f743c74f6a7753a87fc4bc8526	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+d9846cc1987e503f0da8d6f01ff7d19ff9827f29	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, @DISEASE$, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+77bd3e22bb9bcf3025bfae9bb308a6bed7f0e6ec	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and @PHENOTYPICFEATURE$) and congenital rubella syndrome (@DISEASE$, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+a739c393f109fa91b9fe3a23137fcd98126fc8de	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, @DISEASE$ and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+98a6883533cd222465163e0c8c5c4a997ea5c58f	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, @DISEASE$ and @PHENOTYPICFEATURE$) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+9a9e99839f816794cf4395211e10c28e74df76f4	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and @PHENOTYPICFEATURE$) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+2f5c07b9914e616a6402b7764061ed8bed1b3b22	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+8ddb813bf4286509cca64200ac4b8dd216837c9a	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, @DISEASE$, microcephaly and @PHENOTYPICFEATURE$) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+aa21f6123bbf15632ab54285c1268e7e052dbd0c	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+4043f1ac079ac0b129083afc6c3682b8f6ba35cf	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and @PHENOTYPICFEATURE$) and @DISEASE$ (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+2983b59b797b99dbba89b0858d5e6d27a07aae9d	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, @DISEASE$, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+01e0cb100db3e319a7a22def160c39fcf5d06683	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and @DISEASE$ (intrauterine growth retardation, congenital heart disease, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+43cce9c51ef69c9ed4788941e03e4fc517469ae5	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, @DISEASE$, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+959812e0793a8c1767144f6a9a80552f0555d6d5	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and @DISEASE$ (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+15d801c2ecc64bc89abbd35bc2b95ee09cc61223	A premature newborn male was clinically diagnosed as @DISEASE$ with cataracts, congenital heart defects, @PHENOTYPICFEATURE$, hepatosplenomegaly, and thrombocytopenia.	has_symptom
+85276004285c4fbfff0d6bf5abacf062e2f27c10	A premature newborn male was clinically diagnosed as CRS with cataracts, @PHENOTYPICFEATURE$, microcephaly, hepatosplenomegaly, and @DISEASE$.	false
+1bde2e78ab3982d43450fb16ebe2b56189485585	A premature newborn male was clinically diagnosed as CRS with cataracts, @PHENOTYPICFEATURE$, @DISEASE$, hepatosplenomegaly, and thrombocytopenia.	false
+7e1a0ace4449d6763b5aeb81d38baef0f95a7e61	A premature newborn male was clinically diagnosed as CRS with @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, hepatosplenomegaly, and thrombocytopenia.	false
+b11347f17c3eef29538c4213bdafc6cfeff294a3	A premature newborn male was clinically diagnosed as @DISEASE$ with cataracts, @PHENOTYPICFEATURE$, microcephaly, hepatosplenomegaly, and thrombocytopenia.	false
+771ac9e05fa35305cce0cfaff66b2e2a413d5af3	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	has_symptom
+753d6ccab020b0a5913002a43f67526f138a5d6f	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+58397924c49912e87c41e75fe7288a2d3c1eb4e6	A 2-year-old patient, diagnosed with @DISEASE$ including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+d449c62a4976dd55b6627410dcf024c5a7675fdf	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+e6de93cbfa9c54aef6e49bd5bd8260affd15d3f7	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+1edaaaadcd3c447145717c6f5359eebed0d2d3c1	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+3becd9ffbfb103ddbf2431240bdc51ca41bdd211	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+946fd36440653aaa486aab9a34dbab1c1ce6fb3e	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+68bc067fa15e9b1412f278a63d6e761227d4ea44	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, @DISEASE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+580570537508323a2e4f0a2dd1686478ae97cf51	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+ff6aa023d341fb914d01000e12a1bec615ce20c0	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+f0ff43755e809e2db836650ed87f95a34c75214c	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @DISEASE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+220a18aa91c98c8f35e611ad6ce2bc98c7abf280	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+c98befd167e82ad7ebf1c83ba6ea521a819dae46	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+4af3e6b1a791b9bd764d19328765788d923b15a2	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+67dfea7bcb77881b734dd2466c77956b8418159c	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+85f8631aa396de9a3a1e683ac2fe193ece60dbec	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+eabfc2232796d4b06ac5eae3fa6edb7497074d85	Similarly, when LWD and marked @PHENOTYPICFEATURE$ occur in a patient with @DISEASE$, the possibility of mutations in SHOX and the downstream of SHOX gene should be considered.	has_symptom
+29b1ec266e4d917850dadacb006aed27131ce2fe	Successful bone marrow transplantation in a girl with @DISEASE$ and preterminal @PHENOTYPICFEATURE$.	has_symptom
+f1222472a88ee03ce05f3da34d95004b8dbba0df	A 17-year old patient who was continuously dialyzed due to @DISEASE$ and bilateral @PHENOTYPICFEATURE$ developed an acute and severe bleeding from a ruptured Graafian follicle (corpus luteum).	has_symptom
+60d28f6dd1cdfbcdcecf9be44d08aed54b38f281	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	has_symptom
+1cd0d59373161ffbc7ecf76da2e9309c6bdaa5e3	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	has_symptom
+0a8654ae9dbc54700874117157925e5fb35beda8	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+cb1c63ecd788ce6249714107b61991227d9b6ba6	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple @DISEASE$ including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+071a733ff81c3fb42be4df09bdefee03944b8087	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+715164272a90cfd9d2be6a54e1bacb0cdae8fd59	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, @DISEASE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+ba253fe1a90b88e061026a3bbb06675f9372b6ff	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+98f0c14959e5fdc837c1f7a413c38616083e929d	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+291985a68b0d11ca7f3ce92f227783bc46a47fa1	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple @DISEASE$ including skeletal, genitourinary, renal and cardiac abnormalities.	false
+98ded2bc5603fcc564e3ea47d86ed67b54664382	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @DISEASE$ and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+e7e3fcc8d67095e65abaf18deb5a5fc5fe1fb427	@DISEASE$ is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, @PHENOTYPICFEATURE$, multiple skeletal anomalies, and cardiac and renal malformations.	has_symptom
+0f2895d1e5c251eb5cb1f7b1064748ecb6e14b90	Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, @DISEASE$, multiple skeletal anomalies, and cardiac and @PHENOTYPICFEATURE$.	false
+0906754fa2e724603b829f4731c2a544f49ac2aa	@DISEASE$ is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and @PHENOTYPICFEATURE$.	false
+5ec9e2f0e9a498e3437233016d1f805916bb9e4a	Mitochondrial @DISEASE$ is an oxidative phosphorylation disorder causing sideroblastic anemia, myopathy, and, in some cases, @PHENOTYPICFEATURE$ that is due to mutations in the nuclear-encoded PUS1 gene.	has_symptom
+7fc34ee7c54ad64011d2c4e09fea0ece07b3cbfb	We report the seventh case of autosomal recessive inherited mitochondrial @DISEASE$ The patient, a product of consanguineous Persian Jews, had the association of @PHENOTYPICFEATURE$, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia.	has_symptom
+c1fc21206defa8fe76ecb2b73385fe241712c138	All patients had an early clinical presentation with muscle hypotonia, severe @PHENOTYPICFEATURE$ and @DISEASE$ demonstrated by the cranial MRI.	has_symptom
+d3bb9bc3cd7e0cb56087eaa7a15c59bbcd37ce60	All patients had an early clinical presentation with @PHENOTYPICFEATURE$, severe extrapyramidal dysfunction and @DISEASE$ demonstrated by the cranial MRI.	false
+bd7f3dd68d7fc971c96680c28a9cfc6c305c8a42	All patients had an early clinical presentation with @PHENOTYPICFEATURE$, severe @DISEASE$ and Leigh disease demonstrated by the cranial MRI.	false
+010a20e9253a97f931f6219a18f0afc6daeeb3df	In conclusion, we confirm that @PHENOTYPICFEATURE$ may occur in association with @DISEASE$.	has_symptom
+1ec71d406fb5e41914548048340c890b64ac3ee8	Dravet syndrome (DS) or severe @DISEASE$ has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable myoclonic, complex partial, or @PHENOTYPICFEATURE$.	has_symptom
+af881ede0db420c3c71056ea20a360c92291e7f6	Dravet syndrome (DS) or severe @DISEASE$ has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable @PHENOTYPICFEATURE$, complex partial, or absence seizures.	false
+511fd867ef0a7efc54ec316cf3644fece2f60df6	Dravet syndrome (DS) or severe myoclonic epilepsy of infancy has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable @PHENOTYPICFEATURE$, complex partial, or @DISEASE$.	false
+20961badd421608151b00b320fc0122c63c75487	@DISEASE$ (DS) or severe myoclonic epilepsy of infancy has a complex phenotype including febrile generalized or hemiclonic convulsions before the age of 1, followed by intractable @PHENOTYPICFEATURE$, complex partial, or absence seizures.	false
+f548fc656139944ae4a66f9e5cc131c305da1d04	@DISEASE$ is a rare malformation that can be isolated or found with other @PHENOTYPICFEATURE$.	has_symptom
+370377cdec012e4c7d8627201a61ee6229997e4d	Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial @DISEASE$ and idiopathic @PHENOTYPICFEATURE$ with normal to advanced bone age.	has_symptom
+4d95adaa722fb69bc0036b5f41b390b4fbc85be6	Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, @PHENOTYPICFEATURE$, familial osteochondritis dissecans and idiopathic @DISEASE$ with normal to advanced bone age.	false
+07235eb82891b023df6bf6bb5fb01f4d30fa4e92	Pathogenic variants of ACAN have been reported to cause @DISEASE$, @PHENOTYPICFEATURE$, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age.	false
+759b35637477a872541b94a74c220c08c74abe9f	Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, @PHENOTYPICFEATURE$, familial @DISEASE$ and idiopathic short stature with normal to advanced bone age.	false
+c16c3d7e841320e99580b2cea4e562c9a127ae83	A girl with a mild sporadic osteochondrodysplasia (@DISEASE$) similar to hypochondroplasia but with significant @PHENOTYPICFEATURE$ is reported.	has_symptom
+8a47c668c0c229959319b685a9e706ffaa72320b	: Familial @DISEASE$ (FOCD) is an inherited skeletal defect characterized by the development of large cartilage lesions in multiple joints, @PHENOTYPICFEATURE$, and early onset of severe osteoarthritis.	has_symptom
+2155051dbe8500173a0e9af90031e4892d6be617	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including spondyloepimetaphyseal dysplasia, spondyloepiphyseal dysplasia, familial @DISEASE$ and various undefined @PHENOTYPICFEATURE$ syndromes associated with accelerated bone maturation.	has_symptom
+84fc704da803863d117af2c0e841bfe956e883ab	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including @PHENOTYPICFEATURE$, @DISEASE$, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation.	false
+c542d89004cac6cc8aa35115b8fc9db840fa9ab6	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including @PHENOTYPICFEATURE$, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined short stature @DISEASE$ associated with accelerated bone maturation.	false
+c427dbbfabda466406a834f36373bb63cd052cb6	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including @PHENOTYPICFEATURE$, spondyloepiphyseal dysplasia, familial osteochondritis dissecans and various undefined @DISEASE$ syndromes associated with accelerated bone maturation.	false
+66c2a40b3e26b8742221953b26351fa2622082a4	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including @PHENOTYPICFEATURE$, spondyloepiphyseal dysplasia, familial @DISEASE$ and various undefined short stature syndromes associated with accelerated bone maturation.	false
+0bbde83ead2f9aec1a1ad8c94ddc8b416a2f1cf9	@DISEASE$ (AS) accounts for upto 6% of all cases with @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+530dd5985cf1dbc441e46868bb9e56112753462f	@DISEASE$ is a neurological disorder whose symptoms include @PHENOTYPICFEATURE$, loss of motor coordination, and sleep disturbances.	has_symptom
+3d2b7be46cef2ad8026830f4c801ce1ddc4e8fcb	Angelman syndrome is a neurological disorder whose symptoms include @DISEASE$, loss of motor coordination, and @PHENOTYPICFEATURE$.	false
+59f9ce45bcdcc51d53ea8fa20d94cea2570fd99e	Angelman syndrome is a @DISEASE$ whose symptoms include severe mental retardation, loss of motor coordination, and @PHENOTYPICFEATURE$.	false
+657f607ac1b4c64b9b53554ca8614a70255832e2	@DISEASE$ is a neurological disorder whose symptoms include severe mental retardation, loss of motor coordination, and @PHENOTYPICFEATURE$.	false
+a3fd6b2ed7ef6eec6235cbbf14b0b3479daba906	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, ataxia, and a happy/sociable disposition.	has_symptom
+e4eb5ebfb75c4807909ec044c5d8b2496732fe17	Angelman syndrome (AS) is a neurodevelopmental disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and a happy/sociable disposition.	false
+4045b946b4eff50384c3114c0705ec5db5b6e892	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by severe mental retardation, @PHENOTYPICFEATURE$, and a happy/sociable disposition.	false
+e3e74ec63b763894211819c6942aa9705805317a	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, inappropriate laughter, absent speech, dysmorphic facial features and seizures.	has_symptom
+0e557a8cb32f9cd1efba91648a32b039c07dda7e	Angelman syndrome is characterized by @DISEASE$, inappropriate laughter, absent speech, @PHENOTYPICFEATURE$ and seizures.	false
+7b6d255f563552a574204f678aa98a0fa6a80005	@DISEASE$ is characterized by severe mental retardation, inappropriate laughter, absent speech, @PHENOTYPICFEATURE$ and seizures.	false
+a3b7b8cf3a3302b4f2231caefcf6f69c4ebf6686	Angelman syndrome is characterized by @DISEASE$, inappropriate laughter, absent speech, dysmorphic facial features and @PHENOTYPICFEATURE$.	false
+2bc332499ed3b7b09d269914b6c5d0d921c93270	@DISEASE$ is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and @PHENOTYPICFEATURE$.	false
+e44ebb4a3c9235ec9034a36fe6f138e109dd55f7	@DISEASE$ (AS) is a disorder of human cognition characterized by @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+3c2227adc54f3aa2e1a01760c5d1fcbacfda405b	@DISEASE$ (AS) is characterized by @PHENOTYPICFEATURE$, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram.	has_symptom
+676d1cadbdba24adf751b06e830b671b0b880a1b	@DISEASE$ is an inherited disorder that includes @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+7b7833658842a493d0d494801dca7a5895a588a4	@DISEASE$ methylation screening of 15q11-q13 in institutionalized individuals with @PHENOTYPICFEATURE$.	has_symptom
+ff6a576cc78a1aa51c8f12a0018d9a1178239924	Confirmation of @DISEASE$ in a boy previously reported as having Becker muscular dystrophy and @PHENOTYPICFEATURE$.	has_symptom
+dba438ec27856d9f3513f1b405d3e7e3dd604f29	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and speech and seizure disorders.	has_symptom
+425a8ddfd1512814f22257a248e406d07fe862b5	Congenital ichthyosis, mental retardation and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+2de94bfd1281b68dc849724cc1f1e7057cf5762b	Congenital ichthyosis, @PHENOTYPICFEATURE$ and spasticity (@DISEASE$).	false
+f1f44f1325bf394d6fe01ef333bc26e1465d3021	Congenital ichthyosis, @PHENOTYPICFEATURE$ and @DISEASE$ (Sjogren-Larsson syndrome).	false
+1f4fb0fdedc85e01b58761dedf2738ae4d1e35e8	Congenital @DISEASE$, @PHENOTYPICFEATURE$ and spasticity (Sjogren-Larsson syndrome).	false
+3201ee69699f833477b18211aafbdd16e15d7ad8	While heterozygous variants in SCN1B have been described in families with generalized epilepsy with @PHENOTYPICFEATURE$ plus, Type 1, only three cases of homozygous, missense variants in SCN1B have been reported in association with autosomal recessive inheritance of a severe @DISEASE$.	has_symptom
+4089f6675174575af2769fbe1e4950fc87b80847	Common variants in the sodium channel gene, SCN1A, are associated with @PHENOTYPICFEATURE$, and rare pathogenic variants in SCN1A cause the severe @DISEASE$ Dravet syndrome.	has_symptom
+2e7c37e9ae92c743ca1d44c06c76ff82c7000a91	Also suggested is a relationship of @PHENOTYPICFEATURE$, obesity, and mental retardation in childhood-onset or congenital disorders such as Down's syndrome and @DISEASE$, and in other endocrine dysfunction diseases.	has_symptom
+699713ddac2999494d634e4ecea242a5a4847bad	Also suggested is a relationship of @DISEASE$, obesity, and @PHENOTYPICFEATURE$ in childhood-onset or congenital disorders such as Down's syndrome and Prader-Willi syndrome, and in other endocrine dysfunction diseases.	false
+60328344d0669b59c1ef7202fdc5058e4e8fefdb	Also suggested is a relationship of sleep apnea, @PHENOTYPICFEATURE$, and mental retardation in childhood-onset or congenital disorders such as Down's syndrome and @DISEASE$, and in other endocrine dysfunction diseases.	false
+8dfa71954679bb9b3ba8f3c692a8c29c9d00d4c3	Also suggested is a relationship of sleep apnea, obesity, and @PHENOTYPICFEATURE$ in childhood-onset or congenital disorders such as Down's syndrome and @DISEASE$, and in other endocrine dysfunction diseases.	false
+6d6fc4676a6f638986a6bde9489b9aef7878bcc9	Also suggested is a relationship of @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation in childhood-onset or congenital disorders such as Down's syndrome and Prader-Willi syndrome, and in other endocrine dysfunction diseases.	false
+f53dfe239ab0a18536e111d23eaa27ab1c6176b4	The clinical course and changes in hypercapnic ventilatory drive over time were serially assessed before and after tracheostomy placement in a 14 year old, morbidly obese female patient with @DISEASE$, severe obstructive @PHENOTYPICFEATURE$, and obesity-hypoventilation syndrome.	has_symptom
+ba92d3b40b3a92e33144c42d12d36a6c2e21d280	Besides @PHENOTYPICFEATURE$, children with @DISEASE$ (PWS) may have excessive daytime sleepiness and rapid eye movement (REM) sleep abnormality.	has_symptom
+8605786d33cdc662bf40d8b0994fa28ea0855547	Individuals with @DISEASE$ (PWS) are at risk of sleep disturbances, such as excessive daytime sleepiness (EDS) and @PHENOTYPICFEATURE$, and behavioural problems.	has_symptom
+fbf058032dab37ba0b4e6b77674c1ee8085122aa	Individuals with Prader-Willi syndrome (PWS) are at risk of @PHENOTYPICFEATURE$, such as excessive daytime sleepiness (EDS) and @DISEASE$, and behavioural problems.	false
+26b5296e825e8a6f572bc9ab18f099c5221efdab	Individuals with @DISEASE$ (PWS) are at risk of @PHENOTYPICFEATURE$, such as excessive daytime sleepiness (EDS) and sleep apnoea, and behavioural problems.	false
+910da3f0ac8bb0553eb505586ecce23fa1db02eb	@DISEASE$: sorting out the relationships between obesity, hypersomnia, and @PHENOTYPICFEATURE$.	has_symptom
+2e5cf2d6a3069193423367422a95c9d80180255e	Prader-Willi syndrome: sorting out the relationships between @PHENOTYPICFEATURE$, hypersomnia, and @DISEASE$.	false
+d804bf092b9974306454a80a70de519bcfce81b9	Prader-Willi syndrome: sorting out the relationships between obesity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+440c6a5dd9d5a78fab9e050d62cba3805bed0103	@DISEASE$: sorting out the relationships between @PHENOTYPICFEATURE$, hypersomnia, and sleep apnea.	false
+0e51c7471dc9d43674d47ab6e8f041c72221eda1	@DISEASE$: sorting out the relationships between obesity, @PHENOTYPICFEATURE$, and sleep apnea.	false
+27d838f32e3aa9b6e19e9e716fb851bd3efbd06a	Continuous spikes and waves during slow sleep (@DISEASE$) is an EEG pattern that appears during childhood, and is often associated with @PHENOTYPICFEATURE$.	has_symptom
+0ac276dc2acb4c1563c312902d53e66cc07be026	The striking phenotype associated with @DISEASE$ is important to recognize, as molecular diagnostic testing can spare patients unnecessary procedures and prompt the physician to monitor for associated @PHENOTYPICFEATURE$.	has_symptom
+a68e5b5fa398e6c9c9d1b582df1e75bbb8cff2ea	Lymphedema, lymphangiectasias, @PHENOTYPICFEATURE$ and unusual facial characteristics define the autosomal recessive @DISEASE$.	has_symptom
+9ccaf3d2d8177d0c12b204a4c9cab00920d2a520	@DISEASE$ is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable @PHENOTYPICFEATURE$.	has_symptom
+18aaaf68f3355aa4e2d4fb9f6b611cf7e2021c7e	@DISEASE$ is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, @PHENOTYPICFEATURE$, and variable intellectual disability.	false
+f2f44d7b1bf7d9595a7367093c455461ad39de41	Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, @PHENOTYPICFEATURE$, and variable @DISEASE$.	false
+40cf0b1ef4a512b0547a1349d2eac069cde7ddc4	Intestinal lymphangiectasia, lymphedema, @PHENOTYPICFEATURE$, and typical face: confirmation of the @DISEASE$.	has_symptom
+42bd9299d48e9cb611741c090872c7b3ebceabf1	@DISEASE$ is a rare, recently described genetic disorder in which facial anomalies and @PHENOTYPICFEATURE$ accompany congenital lymphedema and intestinal lymphangiectasia.	has_symptom
+1bdc8985a472a68f34949160b832dfd227d14e1d	The characteristic signs of @DISEASE$ are lymphangiectasia, lymph edema, facial anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+736e679ae6afa4aae554f6b40442bc8b6024e363	Of these, 31 had @PHENOTYPICFEATURE$ + hydrocephaly, 14 had spina bifida + meningomyelosel, 5 had choroid plexus cyst, 5 had Dandy Walker malformation, 3 had sacrocoxigeal teratoma, 2 had encephalosel, 1 had @DISEASE$, and 1 had Arnold Chiari malformation.	has_symptom
+177ae45b0cac6d4ea7877d4d7eab5bab7e88c631	Of these, 31 had @DISEASE$ + @PHENOTYPICFEATURE$, 14 had spina bifida + meningomyelosel, 5 had choroid plexus cyst, 5 had Dandy Walker malformation, 3 had sacrocoxigeal teratoma, 2 had encephalosel, 1 had microcephaly, and 1 had Arnold Chiari malformation.	false
+382981f557849ca06940ea664d61211787be9983	Of these, 31 had ventriculomegaly + hydrocephaly, 14 had @PHENOTYPICFEATURE$ + meningomyelosel, 5 had choroid plexus cyst, 5 had Dandy Walker malformation, 3 had sacrocoxigeal teratoma, 2 had encephalosel, 1 had @DISEASE$, and 1 had Arnold Chiari malformation.	false
+a1766f3799d0888e402fcefbdb9227e56c05e4ac	Of these, 31 had @DISEASE$ + hydrocephaly, 14 had @PHENOTYPICFEATURE$ + meningomyelosel, 5 had choroid plexus cyst, 5 had Dandy Walker malformation, 3 had sacrocoxigeal teratoma, 2 had encephalosel, 1 had microcephaly, and 1 had Arnold Chiari malformation.	false
+c8887e78e8e5f7582ccfc673844d5737d4ab4847	Of these, 31 had ventriculomegaly + @PHENOTYPICFEATURE$, 14 had spina bifida + meningomyelosel, 5 had choroid plexus cyst, 5 had Dandy Walker malformation, 3 had sacrocoxigeal teratoma, 2 had encephalosel, 1 had @DISEASE$, and 1 had Arnold Chiari malformation.	false
+a233f508636362c089eaab6bad1ae785f31ac13a	At 23.3 gestational weeks, ultrasonography showed abnormal intracranial anatomy with cerebral @PHENOTYPICFEATURE$, @DISEASE$, and parenchymal calcification.	has_symptom
+e1d62bcfceefc55198d196a7c9cc6225f66b249a	In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, @DISEASE$, cortical atrophy, partial agenesis of corpus callosum, cerebral @PHENOTYPICFEATURE$, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat	has_symptom
+e64bef2c8ff5c7b9d910f6c2fb10aabd08e5ba12	In this report, we describe an 8-year-old girl with @PHENOTYPICFEATURE$, postnatal growth deficiency, generalized muscular hypotonia, seizures, @DISEASE$, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat	false
+35045a8308497e4fcf0ae05e9b7d182bdca60142	In this report, we describe an 8-year-old girl with @PHENOTYPICFEATURE$, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral @DISEASE$, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat	false
+35853fd5d0449df3e64e5a534013e9d54babdbea	In this report, we describe an 8-year-old girl with @PHENOTYPICFEATURE$, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, @DISEASE$ anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat	false
+e694bcc841cf93d2a03ce9179c258cc5e1d40f98	The Zika-asymptomatic, HIV-positive pregnant woman underwent ultrasounds revealing fetal cerebral @PHENOTYPICFEATURE$, @DISEASE$, and brain atrophy.	has_symptom
+a97c61099c72839871dc106ac3bb0c8dd3b3ee86	The Zika-asymptomatic, HIV-positive pregnant woman underwent ultrasounds revealing fetal cerebral @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	false
+7317fb9065897657f91a030ef8e0e9e53d5ea33e	The Zika-asymptomatic, HIV-positive pregnant woman underwent ultrasounds revealing fetal cerebral ventriculomegaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c1456021c31ac99e295e2a26edbdfdb305223dc5	In case 1 Meckel syndrome was identified by the presence of oligohydramnios, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+317fbcf4649b18c07bf50f5d4498d550ec05a3de	Both had severe development delay, minor dysmorphic features, @DISEASE$, severe hypoplasia of the corpus callosum, cerebral atrophy, @PHENOTYPICFEATURE$ and increase in serum lactate levels without systemic acidosis.	has_symptom
+ddd00a10a2d864b4dbf138079910b1e94a7a6cb8	Both had severe development delay, minor dysmorphic features, @DISEASE$, severe hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, ventricular dilatation and increase in serum lactate levels without systemic acidosis.	false
+9eca284698ca66da2b44b4ce371c6c9c1a5e10e3	Both had severe development delay, minor dysmorphic features, microcephaly, severe hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$ and increase in serum lactate levels without systemic acidosis.	false
+d625911e0965d310b163ce51ccce6ac8f3ff9fdc	Both cases showed @DISEASE$, @PHENOTYPICFEATURE$, absent corpus callosum, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial overgrowth into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix.	has_symptom
+196c392232a77477d7d11d1c74c712a8537e9c2c	Both cases showed @DISEASE$, ventricular dilatation, @PHENOTYPICFEATURE$, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial overgrowth into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix.	false
+8d022bdb7bbb78c81f789e23f5d2acce8f16c589	Both cases showed @DISEASE$, ventricular dilatation, absent corpus callosum, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial @PHENOTYPICFEATURE$ into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix.	false
+f3f92699527ab7c04d4c71c267c14e8a8f1ae616	Both cases showed microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial overgrowth into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix.	false
+5bce1f1a69014c2c354bf50b290cbddde77146b4	Both cases showed microcephaly, @DISEASE$, absent corpus callosum, absent or extremely hypoplastic pyramids, heterotopic inferior olives, focal neuroglial @PHENOTYPICFEATURE$ into meninges, focal cystic change with gliosis and recent degenerative changes in the germinal matrix.	false
+0bad9c182a5543a0b9618080c18c4c357774cf31	@DISEASE$ is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including @PHENOTYPICFEATURE$, a thin upper lip, hypoplastic columella, and a round face.	has_symptom
+fc3429f35eca686a48432fe912943d77b5be570a	Peters plus syndrome is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including @DISEASE$, a @PHENOTYPICFEATURE$, hypoplastic columella, and a round face.	false
+51ec9381969195011b783f5242131ac511b859c5	@DISEASE$ is a multiple malformation syndrome characterized by a combination of Peters anomaly of the eye and other extraocular defects, including short-limb dwarfism, a @PHENOTYPICFEATURE$, hypoplastic columella, and a round face.	false
+8cf55c35dfb1732f680599688e6bb8b8018a1db3	Peters plus syndrome is a multiple malformation syndrome characterized by a combination of @DISEASE$ of the eye and other extraocular defects, including short-limb dwarfism, a @PHENOTYPICFEATURE$, hypoplastic columella, and a round face.	false
+206e226b12c225b4c8e93395a88f4f40c23aa86c	Peters plus syndrome is a multiple @DISEASE$ characterized by a combination of Peters anomaly of the eye and other extraocular defects, including short-limb dwarfism, a @PHENOTYPICFEATURE$, hypoplastic columella, and a round face.	false
+022b47b2358bc8f0898eb18e43f50a46bb885efa	@DISEASE$ is characterized by Peters' anomaly, a typical face, cleft lip and palate, @PHENOTYPICFEATURE$, and developmental retardation.	has_symptom
+99bcfb17fb55a38ebaca5907318eccee15168736	Major risk factors for severe visual impairment included symptomatic status, @PHENOTYPICFEATURE$, chorioretinitis, @DISEASE$ and sensorineural hearing loss.	has_symptom
+f8ed02c861b4f9c6a562d4e682f220318e9752be	Major risk factors for severe visual impairment included symptomatic status, optic nerve atrophy, chorioretinitis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f98cf3c12dc0c5ca7e9f35d782caf04482e2617a	Major risk factors for severe visual impairment included symptomatic status, @DISEASE$, chorioretinitis, cortical visual impairment and @PHENOTYPICFEATURE$.	false
+090a594a6ab3518957d16c38ca68049b73f57ff6	Major risk factors for severe @DISEASE$ included symptomatic status, optic nerve atrophy, chorioretinitis, cortical visual impairment and @PHENOTYPICFEATURE$.	false
+16ee456b0e8e209c631feb7e64b1cde0154872fc	The absence and degree of macular abnormality, retinal abnormality, optic nerve hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, cerebral palsy, seizures, and nystagmus were noted.	has_symptom
+5f8ca1bba8af5fdd38c9ed9acede4db8e2a73fa3	The absence and degree of macular @PHENOTYPICFEATURE$ abnormality, optic nerve hypoplasia, optic nerve atrophy, @DISEASE$, developmental delay, cerebral palsy, seizures, and nystagmus were noted.	false
+600c330803e0a15790f1b2efeba26f5529dcc88a	The absence and degree of macular abnormality, retinal abnormality, optic nerve hypoplasia, @DISEASE$, cortical visual impairment, developmental delay, cerebral palsy, @PHENOTYPICFEATURE$, and nystagmus were noted.	false
+48797cd267733b12e66ec368651637114e0a1383	The absence and degree of macular abnormality, retinal abnormality, optic nerve hypoplasia, optic nerve atrophy, @DISEASE$, developmental delay, cerebral palsy, @PHENOTYPICFEATURE$, and nystagmus were noted.	false
+e9e94c72778a3e7c86cf00f511c9767855412cdd	The absence and degree of macular @PHENOTYPICFEATURE$ abnormality, optic nerve hypoplasia, @DISEASE$, cortical visual impairment, developmental delay, cerebral palsy, seizures, and nystagmus were noted.	false
+7daa6f6b2f930b423a480b844ba7b27f086a0ec8	@PHENOTYPICFEATURE$ and @DISEASE$ were noted.	has_symptom
+a6ec371db6a1c0d5cbbb41d9916b2c5e08b41857	The most common visual or ocular sequelae in the symptomatic group were strabismus (23.4%), chorioretinal scars (19.5%), @DISEASE$ (14.3%), nystagmus (14.3%) and @PHENOTYPICFEATURE$ (11.7%).	has_symptom
+7421e399c121b1deeb294dd53b075fafe6f0d8a2	Other etiologies included CMV retinitis in both eyes secondary to HIV, bilateral @PHENOTYPICFEATURE$ post craniopharyngioma, and @DISEASE$.	has_symptom
+024dd92db0bcfbbf041fd123e7475a9cec6ca3a3	The ophthalmological examination revealed three diagnostic subgroups: a group with @DISEASE$ (CVI), a group with @PHENOTYPICFEATURE$, and a group without visual impairment.	has_symptom
+ec68dbbb394bb6dc2e3c1085af38a629b4294210	The ophthalmological examination revealed three diagnostic subgroups: a group with cerebral visual impairment (CVI), a group with @DISEASE$, and a group without @PHENOTYPICFEATURE$.	false
+3f3c80db42ae68ea76efabc0f2bb202d57bf8414	The ophthalmological examination revealed three diagnostic subgroups: a group with @DISEASE$ (CVI), a group with optic atrophy, and a group without @PHENOTYPICFEATURE$.	false
+268ad79627b3351a4ef1c7ce229a803382386fb9	The most common primary diagnosis was @DISEASE$ (CVI) in 27% cases, followed by @PHENOTYPICFEATURE$ in 16%, and the commonest anatomical site involved was the retina in 30.9%.	has_symptom
+fb8bff2c1184f924ea5658e031f7ea0d250136c1	@PHENOTYPICFEATURE$ and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from @DISEASE$ (CVI).	has_symptom
+79381f20dfdf14d79204b568edbb9f16b9fa01f0	@PHENOTYPICFEATURE$ and @DISEASE$ were both observed.	has_symptom
+802b5ddc679cbfc7e6aba6e1619003bbfc4a5bb0	The major ocular abnormalities identified in the affected cases were strabismus (50%), @PHENOTYPICFEATURE$ (50%) and @DISEASE$ (47.7%).	has_symptom
+818ac879b735c2c1c03c505b5a604db0ca757ec9	The colocalization rate of @DISEASE$ and clinical @PHENOTYPICFEATURE$ may impact seizure-free outcome.	has_symptom
+4ef563ba1fa964d120f983a01157cb083ce01b6d	The colocalization rate of @DISEASE$ and clinical seizures may impact @PHENOTYPICFEATURE$-free outcome.	has_symptom
+0ebf02aee6dd19108091884d83be57bc021ed70f	Using the European database of long-term recordings of surface and invasive electroencephalography data, we analyzed the data from 21 patients with @DISEASE$, including in total 413 clinically manifest @PHENOTYPICFEATURE$ (CS) and 3341 SCS.	has_symptom
+a8a3d9b7908c1620f8b41d7584ac7785be64838f	To define characteristics of subclinical @PHENOTYPICFEATURE$ (@DISEASE$) and their prognostic significance after epilepsy surgery.	has_symptom
+1d9852dd55dc5f65f0e0b0286f41baafdff9a6dc	Sixty-five patients had both @DISEASE$ and clinical @PHENOTYPICFEATURE$ and underwent resective surgery.	has_symptom
+b5d75df550687273dff412c4c359339cba5b8fd4	Subclinical @PHENOTYPICFEATURE$ (@DISEASE$) have rarely been considered in the diagnosis and therapy of epilepsy and have not been systematically analyzed in studies on seizure prediction.	has_symptom
+388819b8110c2798fca9b6aef9bb2c5a86e9823a	Subclinical seizures (@DISEASE$) have rarely been considered in the diagnosis and therapy of epilepsy and have not been systematically analyzed in studies on @PHENOTYPICFEATURE$ prediction.	has_symptom
+a0f9b0e663f1b6d99c1bfa27ea584574c4755fcc	Relationships between SCS and clinical seizures were categorized as either: complete colocalization (Group A), when both @DISEASE$ and clinical seizures originated from the same single focus, or incomplete and no colocalization (Group B), when some or all SCS and clinical @PHENOTYPICFEATURE$ originated from different foci in different lobes or hemispheres.	has_symptom
+a3b157558cd7605fb2db911a95a1f3cef23e077a	Relationships between SCS and clinical seizures were categorized as either: complete colocalization (Group A), when both SCS and clinical @PHENOTYPICFEATURE$ originated from the same single focus, or incomplete and no colocalization (Group B), when some or all @DISEASE$ and clinical seizures originated from different foci in different lobes or hemispheres.	has_symptom
+f10640addc44c0abaa8c3a0ffba12a9dd0fc0030	Relationships between SCS and clinical @PHENOTYPICFEATURE$ were categorized as either: complete colocalization (Group A), when both SCS and clinical seizures originated from the same single focus, or incomplete and no colocalization (Group B), when some or all @DISEASE$ and clinical seizures originated from different foci in different lobes or hemispheres.	has_symptom
+d0fa4b636fbed65fcfa62726fc42fea685fcb525	Relationships between SCS and clinical seizures were categorized as either: complete colocalization (Group A), when both @DISEASE$ and clinical @PHENOTYPICFEATURE$ originated from the same single focus, or incomplete and no colocalization (Group B), when some or all SCS and clinical seizures originated from different foci in different lobes or hemispheres.	has_symptom
+11ea2314709bcbd2ccae4c5598179a28688e7c4a	Relationships between SCS and clinical seizures were categorized as either: complete colocalization (Group A), when both SCS and clinical seizures originated from the same single focus, or incomplete and no colocalization (Group B), when some or all @DISEASE$ and clinical @PHENOTYPICFEATURE$ originated from different foci in different lobes or hemispheres.	has_symptom
+e959e15d4580782b11b5d00780528fef83673128	Relationships between SCS and clinical @PHENOTYPICFEATURE$ were categorized as either: complete colocalization (Group A), when both @DISEASE$ and clinical seizures originated from the same single focus, or incomplete and no colocalization (Group B), when some or all SCS and clinical seizures originated from different foci in different lobes or hemispheres.	has_symptom
+f6d4851aa04b5fa33832e65f6b4dfa77fa2a0617	A patient with exocrine pancreatic insufficiency and @PHENOTYPICFEATURE$ edema was shown also to have a protein-losing gastropathy secondary to @DISEASE$ (M?n?trier's disease).	has_symptom
+094daead04d73782dc6431f8f006dade3ab82189	A patient with exocrine pancreatic insufficiency and @DISEASE$ @PHENOTYPICFEATURE$ was shown also to have a protein-losing gastropathy secondary to giant hypertrophic gastritis (M?n?trier's disease).	false
+d4ac4223a81edf8cb8c31d7eab3299fbaeb953cc	A patient with exocrine pancreatic insufficiency and hypoalbuminemic @PHENOTYPICFEATURE$ was shown also to have a protein-losing gastropathy secondary to @DISEASE$ (M?n?trier's disease).	false
+a12652f0beea7a31127b21928ea1196d31d7f614	A patient with @DISEASE$ and hypoalbuminemic @PHENOTYPICFEATURE$ was shown also to have a protein-losing gastropathy secondary to giant hypertrophic gastritis (M?n?trier's disease).	false
+4d785ec03b45e0e2aad880c2ddc569c52acc25c4	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, abdominal pain and @PHENOTYPICFEATURE$.	has_symptom
+c1bf3248ef0171347ff617f84f601e1ace5fb479	We describe a case of hypertrophic gastropathy with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @PHENOTYPICFEATURE$, abdominal pain and @DISEASE$.	false
+9c9781dc881620da9790fb0edf1dde2520260c85	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, @PHENOTYPICFEATURE$ and hypoalbuminemia.	false
+fe8d3757f1a25d7ba38d171215d174bece299289	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @PHENOTYPICFEATURE$, abdominal pain and hypoalbuminemia.	false
+4f15d3a5fed7e831dc54cc38ff353b18430170dd	We describe a case of hypertrophic gastropathy with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b505e59b6cabdc6428454aa1f65283bcec799701	The presentations in these children include features of @DISEASE$, such as hypoplasia of the corpus callosum, enlarged ventricles, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe @PHENOTYPICFEATURE$.	has_symptom
+cb8ebe505ae2d71d15b1b4689bf33fec7ad7be21	The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe @DISEASE$.	false
+f4e7979be548f00321cea2aabd9f1b2f67159f6c	The presentations in these children include features of @DISEASE$, such as hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, facial dysmorphism with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.	false
+4124cc80e5595e9408538e4225aa73b5b85a8b4b	The presentations in these children include features of @DISEASE$, such as hypoplasia of the corpus callosum, enlarged ventricles, @PHENOTYPICFEATURE$ with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe growth retardation.	false
+f26d3a04486eba263af6f8811da218c1a2e0a878	The presentations in these children include features of acrocallosal syndrome, such as hypoplasia of the corpus callosum, enlarged ventricles, @PHENOTYPICFEATURE$ with a prominent forehead and broad halluces in the first child, but included atypical findings for individuals previously reported to have truncating mutations in KIF7, including imperforate anus, infantile spasms and severe @DISEASE$.	false
+46c56c676e103f3ea1ce20efe48ddd9461f5239b	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	has_symptom
+40ff8029d922da16b0b1f92283860813bc78f46d	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	has_symptom
+4b783fd07cf812b2a70a3843e5643e8e17c133a5	The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and @DISEASE$ in a neonate.	false
+ca2e2737d527f606ed824496496f3c273c1f156e	The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/@PHENOTYPICFEATURE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @DISEASE$ in a neonate.	false
+0c1948bedae2d11bec81d64b1dbca3d9a38a64cb	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/@PHENOTYPICFEATURE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+7f778d4990fa7d32abc8a94a6eb3fb40361b9127	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+0d21f7a13100f861c8f914c5489fd5966f38e1bb	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/@PHENOTYPICFEATURE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+1766cd1552eaafaff2fd0b039ea2a5299f7de08c	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+ff9393efa1a574326cb0693501654bf1b5dd79bf	We report on a patient with severe pre- and post-natal @PHENOTYPICFEATURE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	has_symptom
+20bf43a744625e91af1f9ca25406b0f78d955b80	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @PHENOTYPICFEATURE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+ff9b4ce8b53bfe573bf2f539e249aec62b632d03	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @PHENOTYPICFEATURE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+506d699fff84420e098476c5048d169ef45d32bd	We report on a patient with severe pre- and post-natal @DISEASE$, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+8e6493a6bd590c3927cf8e5c58ce005fd23a2f14	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+8d5391fa67dbeb4122636f4734096d9147194245	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+0c38d7cd6582f878fb1a9dcc5f7145dd16fd7e5a	We report on a patient with severe pre- and post-natal @DISEASE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @PHENOTYPICFEATURE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+a6a340d6d18a96020cf04769842931be985597a1	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+c590922cdd9f6f157b41b8c541fc7c42817e73c2	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+c6d83e89b7db9af4629a594501816c8eb2844c5c	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+830d90d9e6e7efd492c513cb7e29be1a25eaa059	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+f0b9cb8569eb5da9971c24bd4345d3d34fe9483b	We report on a patient with severe pre- and post-natal @DISEASE$, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+8e63f66782d65fe144374ef056e0e0f52f6bfab3	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @PHENOTYPICFEATURE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+4a8377d9ccdb9c8e31e5de515f2fa11104e7a8cc	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+cf19cf627ddb9048c49dc0ea5c19ce01850c9128	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+a0fb64dd42a0675d4be4ab1d19cb88dd1b3b1e15	We report on a patient with severe pre- and post-natal @DISEASE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+a3b8a2e406cb8d7534dada46e2837cfc0ebf2062	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+b1e36638e294b17b9c5fd0ffda8b8a5824adf278	The most frequent histopathologic finding was @DISEASE$, observed in 16.7% patients with isolated @PHENOTYPICFEATURE$, in 50% patients with isolated microscopic hematuria and in 55.9% patients with associated urine abnormalities.	has_symptom
+b3c354c5f69c7839025bc376d83215426accb71c	@PHENOTYPICFEATURE$ patterns and their association with subsequent end-stage renal disease in @DISEASE$.	has_symptom
+28d1a40b9ad36e6a0ebb9e7448ea4bc72522003e	We describe a previously unreported syndrome characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple @DISEASE$, @PHENOTYPICFEATURE$, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children.	has_symptom
+d7bd154db01facebeb5631946d417b905a7187c1	We describe a previously unreported syndrome characterized by secondary (post-natal) @PHENOTYPICFEATURE$ with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, @DISEASE$, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children.	false
+383af81bff793d4e08fa6dc6505022a4d02180db	We describe a previously unreported syndrome characterized by secondary (post-natal) @PHENOTYPICFEATURE$ with fronto-temporal lobe hypoplasia, multiple @DISEASE$, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children.	false
+9449ea0af7c39f614a7815b777936bf6e2b85511	We describe a previously unreported syndrome characterized by secondary (post-natal) @PHENOTYPICFEATURE$ with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe @DISEASE$ and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children.	false
+119fb00f047327a2d712190879c0385c600b42a1	We report a case of Langerhans cell histiocytosis in a 64-year-old male who presented with symptoms and signs of brain involvement, including @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0415a7e662e865efb8f98bcf964d6d7d2234a7dc	Compared with reference texts and reported studies of Brachmann-de Lange syndrome, the incidences of cleft palate (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), @PHENOTYPICFEATURE$ (14 of 37), and @DISEASE$ (four of 13) in the studied patients were increased.	has_symptom
+1d7b07ea9aaaad7afefbc22ab800b7a4a3308aba	Compared with reference texts and reported studies of @DISEASE$, the incidences of @PHENOTYPICFEATURE$ (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), seizures (14 of 37), and hypopituitarism (four of 13) in the studied patients were increased.	false
+8542c1705df65148df927e98844264222abd98cf	Compared with reference texts and reported studies of Brachmann-de Lange syndrome, the incidences of @PHENOTYPICFEATURE$ (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), @DISEASE$ (14 of 37), and hypopituitarism (four of 13) in the studied patients were increased.	false
+f6e882e478ac4e69fce73d04a16cc69cc52299d7	Compared with reference texts and reported studies of Brachmann-de Lange syndrome, the incidences of @PHENOTYPICFEATURE$ (eight of 37), hypospadias (six of 18), nuchal webbing (four of 37), seizures (14 of 37), and @DISEASE$ (four of 13) in the studied patients were increased.	false
+d54caa03a3ce631e77cbfe74c18f88c799677407	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as @PHENOTYPICFEATURE$, short stature and developmental delay, combined @DISEASE$ (CPHD), structural abnormalities of the pituitary gland and early onset retinal dystrophy.	has_symptom
+386010477f739d5bad08299b64a482933b25fd93	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as @DISEASE$, @PHENOTYPICFEATURE$ and developmental delay, combined pituitary hormone deficiency (CPHD), structural abnormalities of the pituitary gland and early onset retinal dystrophy.	false
+3bc1ce55fa63556de446eb88e23357d8940da5e7	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as seizures, short stature and developmental delay, combined @DISEASE$ (CPHD), structural abnormalities of the pituitary gland and early onset @PHENOTYPICFEATURE$.	false
+e40cc340770a98d56091924f324f17f527a137fa	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as @DISEASE$, short stature and developmental delay, combined pituitary hormone deficiency (CPHD), structural abnormalities of the pituitary gland and early onset @PHENOTYPICFEATURE$.	false
+c6d9d7032599bb34badf38ea1bdec98cf96a7e5d	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as seizures, @PHENOTYPICFEATURE$ and developmental delay, combined pituitary hormone deficiency (CPHD), structural abnormalities of the @DISEASE$ and early onset retinal dystrophy.	false
+74912229c4f6567df05f4f9324e1bc8dca1badb4	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as seizures, @PHENOTYPICFEATURE$ and developmental delay, combined @DISEASE$ (CPHD), structural abnormalities of the pituitary gland and early onset retinal dystrophy.	false
+db6e416055342a3a3d4b9426e09291f534d70eec	OTX2 mutations are associated with severe ocular phenotypes and central nervous system abnormalities such as seizures, short stature and developmental delay, combined pituitary hormone deficiency (CPHD), structural abnormalities of the @DISEASE$ and early onset @PHENOTYPICFEATURE$.	false
+3d076c62943f1a538efd3613d241b4be396de94f	Her clinical progression included failure to thrive, @PHENOTYPICFEATURE$, episodes of decerebrate posturing, loss of respiratory drive, and @DISEASE$ from mass effect.	has_symptom
+28b1f1b3b28937705b42a0047d582102b9ce565b	Her clinical progression included @PHENOTYPICFEATURE$, @DISEASE$, episodes of decerebrate posturing, loss of respiratory drive, and pituitary insufficiency from mass effect.	false
+790dd53e9cc5ba92072f535ccd5e42ebc70e0d75	Her clinical progression included @PHENOTYPICFEATURE$, seizures, episodes of decerebrate posturing, loss of respiratory drive, and @DISEASE$ from mass effect.	false
+1a02123cd3a5f51a1169341776f904dcaeeb0b71	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include cleft palate, nuchal webbing, and hypospadias, while the presence of @PHENOTYPICFEATURE$ and @DISEASE$ extend the functional abnormalities found in these patients.	has_symptom
+5dd54462d27837d06f9886ba5f052d363cc327fd	The dysmorphic abnormalities associated with @DISEASE$ may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of seizures and hypopituitarism extend the functional abnormalities found in these patients.	false
+b4717d640ea4b3f5bfb8355e5e80d91ef24e8044	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of @DISEASE$ and hypopituitarism extend the functional abnormalities found in these patients.	false
+df068bdd7d38fe79e93167b66d62013c31b9f880	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of seizures and @DISEASE$ extend the functional abnormalities found in these patients.	false
+744ac294cf8c07e9d90a76c917b5f76c880cef5f	We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, @DISEASE$, Penttinen syndrome, and mucopolysaccharidoses.	has_symptom
+aa2671cfb8df5179c24d0714f524bb0ef741f509	@PHENOTYPICFEATURE$ was present in 41.2% of patients, and 57.1% had positive serology for @DISEASE$.	has_symptom
+6c8f0f91ed4f4bfec6a859055dcb8b7e886d7384	Activation of the innate immune response and interferon signalling in @DISEASE$ and type 2 @PHENOTYPICFEATURE$.	has_symptom
+68c3f771b86771f95e1a66d93b1cec1d54cd10ab	@DISEASE$ (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by muscle weakness, myotonia, and early-onset @PHENOTYPICFEATURE$.	has_symptom
+e752a21a3ea23f3dbd654054cb6eb8f53035d546	Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by @PHENOTYPICFEATURE$, myotonia, and early-onset @DISEASE$.	false
+df61c989c4d7fc70fa406d6fda3375b845164126	@DISEASE$ (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by @PHENOTYPICFEATURE$, myotonia, and early-onset cataracts.	false
+0325ff472a213b865e3b9c96aba2abae15909ef3	[The @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+55a374de82a64170832b0c37771e02ba63db24e1	@DISEASE$ (DM1) is a multi-system disorder characterized by muscle wasting, myotonia, cardiac conduction defects, @PHENOTYPICFEATURE$, and neuropsychological dysfunction.	has_symptom
+d5d063b33d837e300832a8750837abc613a0b5e9	@DISEASE$ (MD1) is an autosomal dominant disorder characterized by myotonia, progressive muscular weakness, @PHENOTYPICFEATURE$, and cardiac involvement.	has_symptom
+3002bd29c107e1e6169b1181d1598171cf12424b	Although @PHENOTYPICFEATURE$ is a characteristic feature of @DISEASE$ (DM1), little is known of the underlying mechanisms.	has_symptom
+6af2f7aee1893d502a9a45b7fae8e79e76c36ea4	@DISEASE$ and myotonic dystrophy type 2 are both characterized by progressive muscle weakness, early-onset @PHENOTYPICFEATURE$, and myotonia.	has_symptom
+308b78635303e35f745036103f700c86d7e25572	@DISEASE$ is a multisystem disorder with myotonia, muscle weakness, @PHENOTYPICFEATURE$, endocrine dysfunction, and intellectual impairment.	has_symptom
+0ee6064bde2ca751e84e65a2ad669cc4118e1cbe	Myotonic dystrophy type 1 is a @DISEASE$ with myotonia, @PHENOTYPICFEATURE$, cataracts, endocrine dysfunction, and intellectual impairment.	false
+5e995ad69ee6cb37b13f182504f8e7986fcdaa8c	Myotonic dystrophy type 1 is a multisystem disorder with myotonia, @PHENOTYPICFEATURE$, @DISEASE$, endocrine dysfunction, and intellectual impairment.	false
+c31635b32b2e61d04374764dfe80548dbd9369ad	@DISEASE$ is a multisystem disorder with myotonia, @PHENOTYPICFEATURE$, cataracts, endocrine dysfunction, and intellectual impairment.	false
+bd949bb16b9333ce4cae145a6a6078fba2788a51	Myotonic dystrophy type 1 is a multisystem disorder with myotonia, muscle weakness, @DISEASE$, endocrine dysfunction, and @PHENOTYPICFEATURE$.	false
+0b007b39edc3fce0c2bf2227caa3f7777fa0c0b0	@DISEASE$ is a multisystem disorder with myotonia, muscle weakness, cataracts, endocrine dysfunction, and @PHENOTYPICFEATURE$.	false
+c7b1a2435b207711319eb56d2a208b12d430356a	Myotonic dystrophy type 1 is a @DISEASE$ with myotonia, muscle weakness, cataracts, endocrine dysfunction, and @PHENOTYPICFEATURE$.	false
+a525eb75005044c11d3f50f4bd9dc761f4371b58	Investigation of the molecular mechanisms underlying @DISEASE$ and 2 @PHENOTYPICFEATURE$ using microRNA?target gene networks.	has_symptom
+69a1246455c80cc950b6878e1387cbdaf01cb58d	Primary @PHENOTYPICFEATURE$ is often the initial manifestation of the adult-onset type of @DISEASE$ (DM1), the most common muscular dystrophy in adults.	has_symptom
+10410cabb441468ee6d9898b49ff658c3c9c7c56	One subject had exophthalmia and strabismus, while another had @PHENOTYPICFEATURE$ @DISEASE$ and sclerocornea, thus expanding the phenotype associated with BMP4 loss-of-function variants.	false
+bdaf234fc5dda981b3abde4e3a9355037ff520a3	A @PHENOTYPICFEATURE$ girl with severe hemolytic anemia due to @DISEASE$ is described.	has_symptom
+1c0f268046da3c7fbd290560a6df510bc332fcad	Classic symptoms of @DISEASE$, like @PHENOTYPICFEATURE$, hemoptysis, and weight loss, were uncommon.	has_symptom
+bab1aef5c66c2a3a840644acc30811369969bb81	Classic symptoms of tuberculosis, like @DISEASE$, hemoptysis, and @PHENOTYPICFEATURE$, were uncommon.	false
+fdc00ab223767cd62c9a49f3b8706158102029e7	Classic symptoms of @DISEASE$, like fever, hemoptysis, and @PHENOTYPICFEATURE$, were uncommon.	false
+736e1f5a63e5fc837b67280c189b7e980ad50741	A case of peritoneal @DISEASE$ in a young female presenting @PHENOTYPICFEATURE$, asthenia and peritoneal effusion, is reported.	has_symptom
+cc2931794c5c2aa36f6779516f0ef155fc616fbc	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, weight loss, a prolonged acute-phase protein response and granuloma formation.	has_symptom
+4cfbf633924ad1d444e832d346b70c5990d2f29a	Tuberculosis is characterized by @DISEASE$, @PHENOTYPICFEATURE$, a prolonged acute-phase protein response and granuloma formation.	false
+9785d27f1cdb4169c37b2e40f98c4bc42c931745	@DISEASE$ is characterized by fever, @PHENOTYPICFEATURE$, a prolonged acute-phase protein response and granuloma formation.	false
+6c423e1c8649386ae9984b90847d5b6d3606486e	Poor economic condition, history of @DISEASE$ or contact with tuberculosis, and @PHENOTYPICFEATURE$ were among the most important factors in differentiating pelvic tuberculosis from advanced ovarian cancer.	has_symptom
+192fcf2821a63412f4b46d217e831a71137d82ce	Poor economic condition, history of tuberculosis or contact with @DISEASE$, and @PHENOTYPICFEATURE$ were among the most important factors in differentiating pelvic tuberculosis from advanced ovarian cancer.	has_symptom
+acd7234821583a24eea31b377090d831ba5e9098	Poor economic condition, history of tuberculosis or contact with tuberculosis, and @PHENOTYPICFEATURE$ were among the most important factors in differentiating pelvic @DISEASE$ from advanced ovarian cancer.	has_symptom
+163be03ff26a2ab9c41983f048029ec85e4e3789	Congenital @DISEASE$ is a rare disease of which the most common presentations include respiratory distress, @PHENOTYPICFEATURE$, and organomegaly.	has_symptom
+5bcad63d2a3e109d962406aacae71df20db124b0	Congenital @DISEASE$ should be considered in infants with weight loss, @PHENOTYPICFEATURE$, cough, hemoptysis and respiratory distress.	has_symptom
+98072b52c1ef62c8651a878759f17acf74c9afa2	However, during antiparasitic treatment, the patient exhibited @PHENOTYPICFEATURE$, meningitis signs, and positive cerebrospinal fluid findings for @DISEASE$.	has_symptom
+49d1a7daecd654bbd050eb0b826b724d9267a279	A 32-year-old man with @DISEASE$, @PHENOTYPICFEATURE$, and rash.	has_symptom
+2be3e806556c93ccf2155abdfb0e9ab909061966	Symptoms of spinal @DISEASE$ are back pain, weakness, weight loss, @PHENOTYPICFEATURE$, fatigue, and malaise.	has_symptom
+13f06e37c3bad89f2aedd2db81351575a4b2c757	Symptoms of spinal @DISEASE$ are back pain, weakness, @PHENOTYPICFEATURE$, fever, fatigue, and malaise.	false
+1901db5e44110dd404e931d8cdd04b6fc86cbe09	Symptoms of spinal tuberculosis are back pain, weakness, @PHENOTYPICFEATURE$, @DISEASE$, fatigue, and malaise.	false
+b0d6675f253e753ac9fedb5533838ca8d35b9920	But the common presenting symptoms of tuberculosis like @PHENOTYPICFEATURE$, cough, weight loss, fatigue, and night sweats are not always associated with @DISEASE$ lymphadenopathy, thereby, making its diagnosis difficult.	has_symptom
+a6a22cc3ccb2653d8a0ee22c4a2719ac0be2ddb2	But the common presenting symptoms of @DISEASE$ like @PHENOTYPICFEATURE$, cough, weight loss, fatigue, and night sweats are not always associated with tuberculosis lymphadenopathy, thereby, making its diagnosis difficult.	has_symptom
+c9b8f5e3f2b2b8935c2ff2c159d852f837ead3c8	But the common presenting symptoms of tuberculosis like fever, cough, @PHENOTYPICFEATURE$, fatigue, and night sweats are not always associated with @DISEASE$ lymphadenopathy, thereby, making its diagnosis difficult.	false
+236781d8c4dbaff5fc9f958c96e3598715affcbc	But the common presenting symptoms of @DISEASE$ like fever, cough, @PHENOTYPICFEATURE$, fatigue, and night sweats are not always associated with tuberculosis lymphadenopathy, thereby, making its diagnosis difficult.	false
+69d8761fa28740576b0f9cc8b19c5a39429ff5bc	But the common presenting symptoms of tuberculosis like @DISEASE$, cough, @PHENOTYPICFEATURE$, fatigue, and night sweats are not always associated with tuberculosis lymphadenopathy, thereby, making its diagnosis difficult.	false
+a8be8f8ffb35506290ae2125f4c7cbc264c4f271	@DISEASE$ should be considered in the differential diagnosis of children presenting with @PHENOTYPICFEATURE$ and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as mental disability.	has_symptom
+42bc87b2ee7ad2f6660cf492e0c2e97300d36aac	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with @PHENOTYPICFEATURE$ and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of @DISEASE$ such as mental disability.	has_symptom
+829d1e0ffccf7ee2a41bc81fb80e4b32f24ec8fb	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with @DISEASE$ and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as @PHENOTYPICFEATURE$.	false
+f2398da5ef1d2f6acd70291f43ec70e2a7474aa3	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of @DISEASE$ such as @PHENOTYPICFEATURE$.	false
+74bf9905e09a1477ea2f280536546b9ed2a7f861	@DISEASE$ should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as @PHENOTYPICFEATURE$.	false
+c17bfc70dec780c716092dccf0fbfa6b35aacf65	@DISEASE$ consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, @PHENOTYPICFEATURE$ and hyperreninaemic hyperaldosteronism.	has_symptom
+045a8e5f23d706d47a5d74907df7c4f0f73e03da	@DISEASE$ consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic @PHENOTYPICFEATURE$.	false
+52b4c7a1fe5b4170bcf63523e39babf046d9bcb7	Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, @DISEASE$ and hyperreninaemic @PHENOTYPICFEATURE$.	false
+2f4b7191360dafd64157640e65880a4a50bf3371	Mutations in the latter cause a phenotypic picture called @DISEASE$ that includes marked @PHENOTYPICFEATURE$ and neonatal presentation with marked intravascular volume depletion.	has_symptom
+7de029c5878eea44c0632876787aabb7c5a02fdc	The antenatal variant of Bartter's syndrome is an autosomal recessive kidney disease characterized by polyhydramnios, premature delivery, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+504e33e1460f7850bfcf351d2ffe7cc1b8b3cb68	The antenatal variant of @DISEASE$ is an autosomal recessive kidney disease characterized by polyhydramnios, premature delivery, hypokalemic alkalosis and @PHENOTYPICFEATURE$.	has_symptom
+85ad89996b8ad82ac3f349d3b6192ce9ed4fed04	Mutations in the NKCC2 gene result in @DISEASE$, an inherited disease characterized by hypokalemic metabolic alkalosis, @PHENOTYPICFEATURE$, salt wasting, and volume depletion.	has_symptom
+2bae073b1d499133a322262aa8f3991ae3956221	Gain-of-function mutations in the CASR gene have been described in some patients with @DISEASE$ associated with hypocalcaemia and @PHENOTYPICFEATURE$.	has_symptom
+a3aa17fc607c85f563603bb1ef789a5a3a78c2ae	Gain-of-function mutations in the CASR gene have been described in some patients with @DISEASE$ associated with @PHENOTYPICFEATURE$ and hypercalciuria.	false
+16d86ee9c407adf5e659c92e74ff99de644284bc	Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+52f5cc5cc36b640caafe86b631f5c2b2ec905766	Patients with hyperprostaglandin E syndrome/antenatal @DISEASE$ typically have renal salt wasting, @PHENOTYPICFEATURE$ with nephrocalcinosis, and secondary hyperaldosteronism.	has_symptom
+099f661c3dfd68b7878cebb1348436f7a96681ee	We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, hypokalemia and @PHENOTYPICFEATURE$ and was diagnosed as having @DISEASE$.	has_symptom
+5104002ba67916fe2806af45eb7bb2eaf2152ff0	We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, @PHENOTYPICFEATURE$ and @DISEASE$ and was diagnosed as having Bartter's syndrome.	false
+a495c7578e06c6975337873c4a37cd42f46b1dfe	We report on two cases, the first being a young boy, born of pregnancy complicated by polyhydramnios, who had classical dysmorphic features, polyuria, @PHENOTYPICFEATURE$ and hypercalciuria and was diagnosed as having @DISEASE$.	false
+5e039b7c2f0fe4204bfd11e14a2ec2799a2532d9	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and nephrocalcinosis.	has_symptom
+f523839e512a56b84dbbc7117d2755f5a2905992	Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild hypomagnesemia, @PHENOTYPICFEATURE$, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting @DISEASE$.	has_symptom
+64197d84883ebf809aa44b12b53433775500a033	Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild @PHENOTYPICFEATURE$, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting @DISEASE$.	false
+af35800d37e7b5890ae3b4343022bcd2181c9e5f	Investigations showed severe @DISEASE$, @PHENOTYPICFEATURE$, hyponatremia, mild hypomagnesemia, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+f68a65b837b9f00bdc8e5dffc20e8390fa38aa20	Investigations showed severe hypokalemia, @PHENOTYPICFEATURE$, hyponatremia, mild hypomagnesemia, @DISEASE$, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+164c5eb0f63c9e78c88af220435a1fc864eb7409	Investigations showed severe @DISEASE$, hypocalcemia, hyponatremia, mild @PHENOTYPICFEATURE$, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+e5b22373699cd2a7ed432686d09ddb3a1f856725	Investigations showed severe hypokalemia, @PHENOTYPICFEATURE$, hyponatremia, mild hypomagnesemia, hypercalciuria, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting @DISEASE$.	false
+de54cb872c2aeb5a0847e85a41097fdf150a87c0	Investigations showed severe hypokalemia, hypocalcemia, hyponatremia, mild @PHENOTYPICFEATURE$, @DISEASE$, metabolic alkalosis and increased renin and aldosterone levels in the blood suggesting Bartter syndrome.	false
+f2ed8b019d2f4b68b6753a108dbc1ff2af37185c	We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, hypokalemia and @PHENOTYPICFEATURE$ ,who was diagnosed with neonatal @DISEASE$.	has_symptom
+89999c695710b34468fbb87117ef1fe0aab03518	We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, @PHENOTYPICFEATURE$ and @DISEASE$ ,who was diagnosed with neonatal Bartter syndrome.	false
+32db2bf7ed09226e70e06639c39da7ac9b1b1698	We describe the presentation and clinical course of a neonate born at 25.6 weeks estimated gestational age with polyuria, hyponatremia, @PHENOTYPICFEATURE$ and hypercalciuria ,who was diagnosed with neonatal @DISEASE$.	false
+ba253fe1a90b88e061026a3bbb06675f9372b6ff	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	has_symptom
+98f0c14959e5fdc837c1f7a413c38616083e929d	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	has_symptom
+0a8654ae9dbc54700874117157925e5fb35beda8	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+60d28f6dd1cdfbcdcecf9be44d08aed54b38f281	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+071a733ff81c3fb42be4df09bdefee03944b8087	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+849edad3077d86cc0dccf819e1d0200caab0e3bd	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple @DISEASE$ including skeletal, genitourinary, renal and cardiac abnormalities.	false
+deae21c1c4ac6120a8255baf31720965e630dfc4	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and @DISEASE$.	false
+291985a68b0d11ca7f3ce92f227783bc46a47fa1	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple @DISEASE$ including skeletal, genitourinary, renal and cardiac abnormalities.	false
+1cd0d59373161ffbc7ecf76da2e9309c6bdaa5e3	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+d2e7f41f9576f5c35e4e0b09bfff9d1669938e05	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @DISEASE$.	false
+283b76f55b5a46ccffe290ba9f15e01dbd943d0f	Microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ anomalies, and syndactylies were also noted.	has_symptom
+2d9d31e00127c26d85775b023ff33c8789c17715	The mother has @PHENOTYPICFEATURE$, @DISEASE$ anomalies, macrodontia, hand anomalies, and learning disability.	has_symptom
+0912dfeba108becba438068070ff530737c21aec	The mother has @DISEASE$, facial anomalies, macrodontia, @PHENOTYPICFEATURE$, and learning disability.	false
+fcfea4b816cdd988ae872127d33aabc17619da62	The mother has short stature, @DISEASE$ anomalies, macrodontia, @PHENOTYPICFEATURE$, and learning disability.	false
+b30714d01ae280671ea04cc5fb4d4f02957ce5ef	In addition, the eldest girl had @DISEASE$ dysmorphism and @PHENOTYPICFEATURE$ (-3SD).	has_symptom
+a3dd86572b637bd74c143e8d0f8912a8c2c3733e	Unusual type of brachydactyly associated with @PHENOTYPICFEATURE$ and @DISEASE$ anomalies.	has_symptom
+fb1471e6c332d2a57a40c407ca8f84bcba6b1f53	Unusual type of @PHENOTYPICFEATURE$ associated with @DISEASE$ and facial anomalies.	false
+4c8ca55ae4d425dce914544726cdae3b189c110c	Unusual type of @PHENOTYPICFEATURE$ associated with short stature and @DISEASE$ anomalies.	false
+2ce85f5799cb5bb1c6eb6e861021da28bb7bbdd7	Both presented with @PHENOTYPICFEATURE$, dysmorphic @DISEASE$ features, and mild bone abnormalities.	has_symptom
+50119cb0b1bf0d0f5ccd3b3075a30d943da53083	Apparently new syndrome of @PHENOTYPICFEATURE$, lumbar malsegmentation, and minor @DISEASE$ anomalies in two brothers.	has_symptom
+5c2a835e8e7d64d50d58110b8a4a826369af03a3	Robinow syndrome comprises dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, brachymesomelia, segmental spine defects, and genital hypoplasia.	has_symptom
+d259dc1c06b5df876511896f977451bac3b53bed	Clinical manifestations include characteristic @DISEASE$ features, @PHENOTYPICFEATURE$, and cardiac anomalies.	has_symptom
+e636e962b6bdab27ecac7d54f083678d98734225	Clinical manifestations include characteristic @DISEASE$ features, short stature, and @PHENOTYPICFEATURE$.	false
+830d0eb748ffd6dd0d14524b5ac6b523a6c59dba	Clinical manifestations include characteristic facial features, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f0a18b0d62ce5b5ab2d53f69d688e10c8736ffdb	Clinical abnormalities included developmental delay, @PHENOTYPICFEATURE$, and minor @DISEASE$ anomalies.	has_symptom
+764857009641cbf1599d4a83dd3d47078447fbdb	Noonan syndrome is characterised by distinct @DISEASE$ stigmata, @PHENOTYPICFEATURE$ and congenital cardiopathy.	has_symptom
+826dbe399ece01277fb4e3016b6ceb55707ee646	@DISEASE$ (HHT), known as well as Osler-Weber-Rendu syndrome (ORW disease) is @PHENOTYPICFEATURE$ disease with the worldwide prevalence of 1 case per 5000-10000 population.	has_symptom
+ab3f728a245c19b3591d4d1adf249749e5dc0139	@DISEASE$ (GSD H) is an autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+c0bb38bcc63ee2201ee470a0ac1d32185d5c9d9d	Dravet syndrome is a severe @DISEASE$, in which 75% of patients have @PHENOTYPICFEATURE$.	has_symptom
+4a0096ac146f71de6005e1de23c04802ee16aff5	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @PHENOTYPICFEATURE$, seizures, and motor dysfunction.	has_symptom
+9621405e6b0e7e6b47d61afc9782bd1c17d2e062	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive @DISEASE$, blindness, @PHENOTYPICFEATURE$, and motor dysfunction.	false
+7346f257a5ec637da70616f7055eb706eca900e8	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @DISEASE$, @PHENOTYPICFEATURE$, and motor dysfunction.	false
+8064b6d59cb458472135c851abb3be38f58077e4	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, @PHENOTYPICFEATURE$, and motor dysfunction.	false
+f404e83bd36027e519b84d16bda34d9a68a0318c	CLN2 disease (@DISEASE$) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, @PHENOTYPICFEATURE$, and early death.	has_symptom
+8c8850bcf1256823ad355a96b10008c0f7286f60	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative @DISEASE$ caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by @PHENOTYPICFEATURE$, seizures, rapid cognitive and motor decline, blindness, and early death.	false
+322f77240861188d40eaa9090444bb83e2fda0e4	CLN2 disease (@DISEASE$) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, @PHENOTYPICFEATURE$, rapid cognitive and motor decline, blindness, and early death.	false
+b6a5d09f10c57edd601f15885641f446050a22ce	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, @PHENOTYPICFEATURE$, rapid cognitive and motor decline, @DISEASE$, and early death.	false
+7fa0db47c6df65841395842dc9c765921054ff0b	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative @DISEASE$ caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, @PHENOTYPICFEATURE$, rapid cognitive and motor decline, blindness, and early death.	false
+ca2d663198223210ba9601d3ae95084cfc27754d	CLN2 disease (@DISEASE$) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by @PHENOTYPICFEATURE$, seizures, rapid cognitive and motor decline, blindness, and early death.	false
+93deae489f50e0d6d63fe8e4c0f9eb7be0c45d56	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by @PHENOTYPICFEATURE$, seizures, rapid cognitive and motor decline, @DISEASE$, and early death.	false
+9a6435e8af5b94fd612a62bba6fad9410a5ad2ee	@DISEASE$, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (@PHENOTYPICFEATURE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	has_symptom
+edb20088fea7e44d117c1401a427aa8551f80eb9	@DISEASE$, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+aa9634e2ff5a0f3ee1d4a4e05e3c78d613fa09f3	TARP syndrome, comprising @PHENOTYPICFEATURE$, atrial septal defect (@DISEASE$), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+5bf83c3a81ac9979c003c14b65ae6685cf1b8a0d	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (@DISEASE$), Robin sequence (micrognathia, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+cd785e0d895ad76d7ed5719adf509793709350b8	@DISEASE$, comprising @PHENOTYPICFEATURE$, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+6ea5587c30a204bf7a0c1ba9455039afe732b4b4	TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (@DISEASE$, glossoptosis, and @PHENOTYPICFEATURE$), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+954674b1845d34b987a852fa825c3bb83c0aa949	TARP syndrome, comprising @PHENOTYPICFEATURE$, atrial septal defect (ASD), Robin sequence (@DISEASE$, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X-linked condition with pre- or postnatal lethality in affected males.	false
+c0c2f5d24406d752d3f668e084c857ec013bb1e5	The @DISEASE$ is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+be9d65d079799b985dad5eb6ae2b0e8a7fa72029	The @DISEASE$ is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, facial anomalies, and mental retardation.	false
+ec3e7b6c333cd6584775bdf65e51807266bb2ed7	The Ruvalcaba syndrome is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$ anomalies, and mental retardation.	false
+88059c5b2bb50eaea27be5e639506ce8cdde8f8d	The Ruvalcaba syndrome is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, facial anomalies, and mental retardation.	false
+a9bc78876c1606c0ac56ad38caaa6614a3049244	The Ruvalcaba syndrome is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, facial anomalies, and @DISEASE$.	false
+8f460cdb1e48de5f64fac4647f75360b8366d1e1	We report on a 22-year-old woman with severe growth and @PHENOTYPICFEATURE$ and numerous manifestations characteristic of the @DISEASE$.	has_symptom
+03c7b34820c76a056789637b8c298eb0ddd2f9da	@PHENOTYPICFEATURE$ syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, @DISEASE$, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.	has_symptom
+6c4a058adac6179f496b09f58995cf90f1c76ef5	Large deletions including the TWIST gene have been identified in some patients with learning disabilities or @PHENOTYPICFEATURE$, which are not typically part of the @DISEASE$.	has_symptom
+1a127de0edfc1830d06e0ae6654f604ba13fa96b	Echocardiographic examination showed a @PHENOTYPICFEATURE$ (interventricular communication), the whole suggestive of @DISEASE$.	has_symptom
+d5bda4680b5504cbeadc35b83bc13899c22ba86b	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	has_symptom
+0d89368fe0b7f576246f38d4701e371b7bf2a47f	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and hypogonadism.	false
+f056a728c9e4c8ea289c6f3b89b15d87ca3c91de	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+b325bbf9d24868f3974ca68082d7b75385a3d67c	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and @DISEASE$.	false
+8a6fabaff074d43adea3f3793be79e53ba359679	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+0be38d6a042b729cc92e98b0a0ef0bb19d62eef4	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+fff0973c8e275c2ce92d145ed162a094878ec7fb	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+1d9ca7fa2b5c376af8fb2fc3a868d45b9ff842a2	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, @DISEASE$, and hypogonadism.	false
+44485a3cebf08b70a3c0c52dfb40f33b22e37bb4	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+fda3aeb602bb537109a00afef6afb70f1d9012c6	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+7cc392ed98816a1652fd7807f8c65b245dbdce86	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+a310f52305c8595f495a5157500f01c9917ef7b0	Eighty-seven percent had @DISEASE$, 82.6% had advanced stage (25 [36.2%] stage III; 32 [46.4%] stage IV), and 24.6% were central nervous system @PHENOTYPICFEATURE$.	false
+5df62bb3862ccbd621e6a6cf2d21b1eb9f513b3e	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's @PHENOTYPICFEATURE$, hereditary spastic paraplegia and @DISEASE$, and behavior disorders like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	has_symptom
+4cdc4517ad9be67d0f6f0d1d9d08ddadf134cea4	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and @DISEASE$, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+4f0ed9de0c7ae3f50e111866e4f3e8c394f52c8b	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, @DISEASE$, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and optic atrophy type 1, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+a912764a556309c1f70544f90b5853fe07619c49	Neurodegenerative disorders like @DISEASE$, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and optic atrophy type 1, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+3a104e522789020fdf0d84836e2b1084b66d3666	Neurodegenerative disorders like @DISEASE$, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and optic atrophy type 1, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+98529f2627c53b3fa1cc5ebe20b45c885d5d2b37	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, @DISEASE$ and optic atrophy type 1, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+a873b6fe316fef475d04d1ef586f75ce090e59ba	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, @DISEASE$ and optic atrophy type 1, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+9d3f0f018728560532eb62f17e803bf9d445ccf6	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's @DISEASE$, hereditary spastic paraplegia and optic atrophy type 1, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+5f6e155e9f98f9efd12b91f7b99bd65a4d45adc6	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's @DISEASE$, hereditary spastic paraplegia and optic atrophy type 1, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+0fbccd030d6b294d1a9f935cf3ab14bc70272bd4	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, @DISEASE$, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and optic atrophy type 1, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+f9b400107ec5139a88f78154210c65cd6f74f2ae	Neurodegenerative disorders like Alzheimer's disease, @DISEASE$, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and optic atrophy type 1, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+9463cf8ff1156482633474663b29989916aecf1b	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and @DISEASE$, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+5aab3ccb26eafd04e668d3cb31c7bcef33876e50	Neurodegenerative disorders like Alzheimer's disease, @DISEASE$, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and optic atrophy type 1, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+985c82c5a72f6e4d06ea5164c2ac685a4c5a6e8f	@DISEASE$ (HD) is a common malignant lymphoma that classically presents with painless lymphadenopathy, @PHENOTYPICFEATURE$, nocturnal sweats, fever, and generalized pruritus.	has_symptom
+39145603ab5c58cd8575b798aaaac9499ef23d0d	@DISEASE$ (HD) is a common malignant lymphoma that classically presents with painless lymphadenopathy, weight loss, nocturnal sweats, @PHENOTYPICFEATURE$, and generalized pruritus.	false
+c0d8e8cec50bb2b05d2aa139fce405e39cba9bc2	Hodgkin's disease (HD) is a common malignant lymphoma that classically presents with painless lymphadenopathy, @DISEASE$, nocturnal sweats, @PHENOTYPICFEATURE$, and generalized pruritus.	false
+4c2b8fe3d43a45273a380a443bef978f50a5f87f	Hodgkin's disease (HD) is a common @DISEASE$ that classically presents with painless lymphadenopathy, weight loss, nocturnal sweats, @PHENOTYPICFEATURE$, and generalized pruritus.	false
+265d652f0c70107ef7388f3893369918d655494d	People with @DISEASE$ usually present with a lump in the neck or upper chest, but a quarter of people also have fever, sweating, @PHENOTYPICFEATURE$, fatigue, and itch.	has_symptom
+265d652f0c70107ef7388f3893369918d655494d	People with @DISEASE$ usually present with a lump in the neck or upper chest, but a quarter of people also have fever, sweating, @PHENOTYPICFEATURE$, fatigue, and itch.	has_symptom
+265d652f0c70107ef7388f3893369918d655494d	People with @DISEASE$ usually present with a lump in the neck or upper chest, but a quarter of people also have fever, sweating, @PHENOTYPICFEATURE$, fatigue, and itch.	has_symptom
+5081918b74c4425af739e6bf3ec482618a260024	Optic atrophy (OA) and @PHENOTYPICFEATURE$ (SNHL) are key abnormalities in several syndromes, including the recessively inherited @DISEASE$.	has_symptom
+3cfaf2750f1e59c4589c563c1deb414d856e45c2	@PHENOTYPICFEATURE$ (OA) and @DISEASE$ (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1.	false
+56a687da0af2cffbba29adbe00c16b2f738a2995	@PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited @DISEASE$.	false
+37143cf36f11443cf508439be0780ab4ddfb1eab	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and @DISEASE$ and that associated diseases, such as coronary heart disease, cardiac failure and arterial @PHENOTYPICFEATURE$, are more important in this respect.	has_symptom
+ede002b8d2a544caa5603b84069bd464439da9cd	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and @DISEASE$ and that associated diseases, such as coronary heart disease, @PHENOTYPICFEATURE$ and arterial hypertension, are more important in this respect.	false
+918f7205030a12b1620f968cb9ca18241faa00ca	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and MID and that associated diseases, such as @DISEASE$, @PHENOTYPICFEATURE$ and arterial hypertension, are more important in this respect.	false
+6dfddf5fa7cecff4864990530b1871f29b2c977d	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and MID and that associated diseases, such as coronary heart disease, @PHENOTYPICFEATURE$ and arterial @DISEASE$, are more important in this respect.	false
+b00b20f4b8ceda87e8f120a017628e45599b9ac6	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	has_symptom
+c5d7bb92ae4bce671fa9b2cfa2ae13e6df638457	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+835f2b83613892566de022d0e06804032f3cd04b	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, @DISEASE$ and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+8440ef9d5626a3fde133c53e685b42bff5aeac48	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+bffdfba843dd5c8e6d9d1eba48f7cb312e4ecca5	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+dc7b9d3da1b5ba8acd531375f181d151051a0587	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, scoliosis, @DISEASE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+6f66ed1ca3e134574d4d49d129f527347f377cb2	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+ad4f565b2075662da959e1d168d944530afbef77	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, scoliosis, @DISEASE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+543a19abafd7ba6c9f25996f480739bce24dc106	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+be5244898a06c37a4e4d503b77119d0e7c140084	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+4f435597dfae3b16dbd6233bab196bfe04c73cd7	The @DISEASE$ with progressive neurological involvement and @PHENOTYPICFEATURE$.	has_symptom
+f894bc29fbc38d19166e69f5aaec05b0a9c49673	("@DISEASE$ with myoclonic @PHENOTYPICFEATURE$).	has_symptom
+40c838a3d1cd63e9320e46c7c9994f8b86268a25	("Dancing eyes" syndrome with @PHENOTYPICFEATURE$ @DISEASE$).	false
+e3de40ce12015436939a8404f5344b7e00266b3e	("@DISEASE$ with @PHENOTYPICFEATURE$ ataxia).	false
+e35f6fd6a7bec1d5e68fdd08875ec2bcd269a4da	@DISEASE$ (OMS) is a rare immune-mediated disorder characterized by opsoclonus, myoclonus, @PHENOTYPICFEATURE$ and behavioral changes.	has_symptom
+2759d18ae5e9a387b7c65b9445c7f44678689f9c	Opsoclonus myoclonus syndrome (@DISEASE$) is a rare immune-mediated disorder characterized by opsoclonus, myoclonus, @PHENOTYPICFEATURE$ and behavioral changes.	has_symptom
+ef3803aea29db33971bc586ca132cc8233b1174e	We present the case of a 47-year-old woman with encephalopathy, @PHENOTYPICFEATURE$ and oscillopsia diagnosed with opsoclonus myoclonus syndrome (@DISEASE$).	has_symptom
+5beb9a2670df6876b79df96148ddb8387c634e58	We present the case of a 47-year-old woman with encephalopathy, @PHENOTYPICFEATURE$ and oscillopsia diagnosed with @DISEASE$ (OMS).	has_symptom
+88e950413057f28fefed6e4f726163c0f0e598ec	We present the case of a 47-year-old woman with @PHENOTYPICFEATURE$, ataxia and oscillopsia diagnosed with opsoclonus myoclonus syndrome (@DISEASE$).	false
+1c4769d3c6a6f744921021cd61a432d430f48613	We present the case of a 47-year-old woman with @PHENOTYPICFEATURE$, @DISEASE$ and oscillopsia diagnosed with opsoclonus myoclonus syndrome (OMS).	false
+4d0c5e1f96ad53f5fe6aeec193185b3b9742f46a	We present the case of a 47-year-old woman with @PHENOTYPICFEATURE$, ataxia and oscillopsia diagnosed with @DISEASE$ (OMS).	false
+a9cf17fd4648a39026e98db9ec39ec15a0669b72	Acute @PHENOTYPICFEATURE$, acute cerebellitis, and @DISEASE$.	has_symptom
+faadfebceb3766f131c0d13338acd36b34c4b6a6	Opsoclonus-myoclonus syndrome (@DISEASE$) typically presents with chaotic eye movements and myoclonus with some patients exhibiting @PHENOTYPICFEATURE$ and behavioural disturbance.	has_symptom
+98974690f3cf36952d2617289e152e66b3d38322	@DISEASE$ (OMS) typically presents with chaotic eye movements and myoclonus with some patients exhibiting @PHENOTYPICFEATURE$ and behavioural disturbance.	has_symptom
+35721f4fe8c5df151d0d2534413cfb62a0303f99	@DISEASE$ (OMS) is characterized by abnormal eye and systemic involuntary movements, as well as @PHENOTYPICFEATURE$.	has_symptom
+68bcfd8a65f437c520019f7dca4ee3ba887a62ba	Opsoclonus-myoclonus syndrome (@DISEASE$) is characterized by abnormal eye and systemic involuntary movements, as well as @PHENOTYPICFEATURE$.	has_symptom
+9f9aced05eaad4dcbb185a5e5c42695672741568	@DISEASE$ (OMS) is a rare neurologic disorder characterized by opsoclonus, myoclonus, @PHENOTYPICFEATURE$ and behavioral disturbance.	has_symptom
+a43c129cb8505c2d5d7293affec5b20a107bc214	Opsoclonus-myoclonus syndrome (@DISEASE$) is a rare neurologic disorder characterized by opsoclonus, myoclonus, @PHENOTYPICFEATURE$ and behavioral disturbance.	has_symptom
+9cebfe26283beee560fc043b918a5a6f4efa8348	@DISEASE$ @PHENOTYPICFEATURE$ associated with non-small-cell lung carcinoma.	has_symptom
+5ce19f91020c93eb81d526a53ec53795eb92c0eb	Opsoclonus-myoclonus syndrome (@DISEASE$) is a rare neurological disease characterized by opsoclonus, myoclonus, @PHENOTYPICFEATURE$, and behavioral changes.	has_symptom
+fe7f4acfdbebfb96de25de272fb76b23dba3c809	@DISEASE$ (OMS) is a rare neurological disease characterized by opsoclonus, myoclonus, @PHENOTYPICFEATURE$, and behavioral changes.	has_symptom
+82515f75b7b13e2ee904cb306d74badcb5785569	Nonparaneoplastic ACA encompasses postinfectious acute cerebellar ataxia, @DISEASE$, and pure @PHENOTYPICFEATURE$ with or without autoantibodies.	has_symptom
+918afd2019c315d92690fe2bcc3f35be09d8c7d0	Nonparaneoplastic ACA encompasses postinfectious acute @PHENOTYPICFEATURE$, @DISEASE$, and pure cerebellar ataxia with or without autoantibodies.	has_symptom
+5cac00479e682142a9f4fdf4f5b284bd909ad916	We report three patients with @DISEASE$ and Maffucci's syndrome who had diplopia as the initial manifestation of intracranial @PHENOTYPICFEATURE$.	has_symptom
+8da8b8fee494014cbbb072283d185573bb073df1	[@DISEASE$: benign @PHENOTYPICFEATURE$ with risk of malignant transformation.	has_symptom
+80f1a7758257006f10a5910200ba786aa9352b9d	Do intracranial @PHENOTYPICFEATURE$ differ in @DISEASE$ and maffucci syndrome?	has_symptom
+22f60be27c35495514daed65caa187916d140521	Enchondromas are benign lesions that can occur as solitary @PHENOTYPICFEATURE$ or multiple tumors (@DISEASE$) and may be precursors of central chondrosarcomas.	has_symptom
+d7c4c4baeb55a239805b2f150a1d32e0c8d7d9c5	Enchondromas are benign lesions that can occur as solitary tumors or multiple @PHENOTYPICFEATURE$ (@DISEASE$) and may be precursors of central chondrosarcomas.	has_symptom
+a7e8b50fbb72e3c2172fe6dcf20e43aed7c49173	The association between intracranial @PHENOTYPICFEATURE$ and multiple @DISEASE$ (Ollier's disease or Maffucci's syndrome): do children and adults differ?	has_symptom
+3317bfd27cc7183b4bd1e938c9c3b5b263935740	Synovial @DISEASE$ (SOC) is a benign @PHENOTYPICFEATURE$ characterized by synovial connective tissue metaplasia.	has_symptom
+203403dc5d1731b266f728fa1651de51296fe7b1	@DISEASE$ is a rare @PHENOTYPICFEATURE$ with unclear clinicopathological features and pathogenesis.	has_symptom
+648f4f68e69f1c4a3fd77f9dcdab8519c45a4d5f	Conventional central chondrosarcomas are malignant cartilaginous @PHENOTYPICFEATURE$, occasionally arising secondary to either solitary or multiple (@DISEASE$) enchondromas.	has_symptom
+f4719aca73a6e0e922302e706e34c5cebfd7402a	@DISEASE$ is classified into primary and secondary lesions; primary osteochondromatosis is a @PHENOTYPICFEATURE$-like lesion, whereas secondary lesions are due to such joint or bursal disorders as osteoarthritis and osteochondral fractures.	has_symptom
+a5c4c74fc09fa1e3675bd1abbf3b8835b4861af2	Osteochondromatosis is classified into primary and secondary lesions; primary @DISEASE$ is a @PHENOTYPICFEATURE$-like lesion, whereas secondary lesions are due to such joint or bursal disorders as osteoarthritis and osteochondral fractures.	has_symptom
+64ed0e90a742a49ffd857c2e7a14336de4f0ff27	Enchondromatosis (or @DISEASE$) is characterized by the presence of intra-osseous benign cartilaginous @PHENOTYPICFEATURE$.	has_symptom
+991505b1b1b5cecf1b0b975533345056abfb6005	@DISEASE$ International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal @PHENOTYPICFEATURE$.	has_symptom
+a26b6dcad1338e3679bdd76016ebe3c0f5bc221b	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as mental retardation, @PHENOTYPICFEATURE$, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as @DISEASE$ syndrome.	has_symptom
+d1b55446eb196409bcfe18b8f881b1ffc7e95f1e	Infants who are born to mothers with @DISEASE$ who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome.	false
+6dc032f9f213413ae5300e97584617dfcfa98e91	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and @DISEASE$)--a condition known as maternal PKU syndrome.	false
+39f9d34f927865aaacdac0c6c22c0526a2e0042a	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, @DISEASE$, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome.	false
+2636eb868330d4c527b87af9547bdcb9a20a2ab2	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious @DISEASE$ (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome.	false
+7e917eeab371c37f1b6ff124a15dcc7bd8478eb2	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU @DISEASE$.	false
+20a06d9cd6b7ba50f37687c4b6ff16389c09dc3c	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as @DISEASE$ syndrome.	false
+8959f6271652ae5b07b120eb48a45a78f8f50529	Nutrient intake and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8bcfa3090b281a5f49f97b8e3fa3b0c230188326	The patient delivered a newborn with classic @DISEASE$ syndrome (microcephaly, brachygnathia, @PHENOTYPICFEATURE$ and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet.	has_symptom
+4a0864f826ab24c720e0ccf8c941078a819a3625	The patient delivered a newborn with classic maternal PKU syndrome (@PHENOTYPICFEATURE$, brachygnathia, @DISEASE$ and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet.	false
+ef4607bd40c020d7cebaba77d9e4f678e9770c15	The patient delivered a newborn with classic @DISEASE$ syndrome (@PHENOTYPICFEATURE$, brachygnathia, congenital heart defect and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet.	false
+74ac1b4491ab144c00abf43959ae6a49029b601a	The patient delivered a newborn with classic maternal PKU @DISEASE$ (@PHENOTYPICFEATURE$, brachygnathia, congenital heart defect and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet.	false
+a0fc6b692e0724236d382db0d7c6c9bb4790cb59	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, @PHENOTYPICFEATURE$ and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	has_symptom
+65f2fcce84f4eeb67e55484853871fdd1ae8550e	Among the children with maternal PKU syndrome: @PHENOTYPICFEATURE$ was diagnosed in 17 cases, @DISEASE$ and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	false
+7b785e052bf2d4b76e6763fe204622a25df751e4	Among the children with @DISEASE$ syndrome: @PHENOTYPICFEATURE$ was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	false
+ea3ad9ff84219affbab55a2585cf582406990485	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, @DISEASE$ and microcephaly in 6 children, and @PHENOTYPICFEATURE$ and the anal atresia in 1 child.	false
+bbdee323886e267390bc315ff8fc530fbc230785	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and @PHENOTYPICFEATURE$ and the anal atresia in 1 child.	false
+59bc8569e07aaa2c3c360824fd4dcc39a83c1c94	Among the children with maternal PKU @DISEASE$: @PHENOTYPICFEATURE$ was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	false
+8b3650e2b214b1daeb3f60249b3fbb2389da0235	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+8b09045c1bd33da3c35f386f5dc2399b6699adb7	Among the children with maternal PKU @DISEASE$: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and @PHENOTYPICFEATURE$ and the anal atresia in 1 child.	false
+8a89ae0580fba53addc211a4718e0b7d6ea16f52	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, @DISEASE$ and @PHENOTYPICFEATURE$ in 6 children, and microcephaly and the anal atresia in 1 child.	false
+07bc0b4c76c7d5cb442d6374efd7b0db9c11df96	Among the children with maternal PKU @DISEASE$: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+f214ce049c4b9695b04fcf388aeee9d257b63afa	Among the children with maternal PKU @DISEASE$: microcephaly was diagnosed in 17 cases, congenital heart defect and @PHENOTYPICFEATURE$ in 6 children, and microcephaly and the anal atresia in 1 child.	false
+6c23c20a957b76eeca33600fc5094f4112403b96	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, @DISEASE$ and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+e818da857f0468e95d75e29f00319f8291f530a4	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and @PHENOTYPICFEATURE$ in 6 children, and microcephaly and the anal atresia in 1 child.	false
+76a8e1323e81e27ea0116d978c5a29bb92f3d181	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	has_symptom
+10988bf313cb781f5b998f80d0604342db04c929	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	false
+18ca8fff3c92213b9e5b21e88a7565dcae584836	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	false
+b6c429257386e8df8f86f97ce70c90301ecf2847	Maternal phenylketonuria (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and @DISEASE$ in nonphenylketonuric offspring.	false
+0233993280beb9c776bdfba98307f46308d1349b	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+5e9dbbd38f904762953ec9db7940c8f90eb94b0c	Maternal phenylketonuria (PKU) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$ in nonphenylketonuric offspring.	false
+6c7ed7db4a302d4831161e1d4a2c44cbc3b23b7e	@DISEASE$ (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+7b277427bdde7b67b85a1c69ecda2c0a145c367a	@DISEASE$ syndrome: @PHENOTYPICFEATURE$, microcephaly, and developmental outcomes.	has_symptom
+b0b01531284dd5ff0571c9b49c576c612adf5dd6	Maternal phenylketonuria @DISEASE$: congenital heart defects, @PHENOTYPICFEATURE$, and developmental outcomes.	false
+80ef5fb0277943692cb6399fad1e9f6780aa0aed	@DISEASE$ syndrome: congenital heart defects, @PHENOTYPICFEATURE$, and developmental outcomes.	false
+e8cda10982d0d17e0ccc5023808278f5fa7829f2	Maternal phenylketonuria syndrome: @DISEASE$, @PHENOTYPICFEATURE$, and developmental outcomes.	false
+476fc0c3a15e3f7041750a409cc4abe5157cd5d4	@DISEASE$ (MPKU) is known to affect fetal outcome, often being associated with microcephaly and @PHENOTYPICFEATURE$ (CHD) if the maternal diet is not appropriately managed.	has_symptom
+5b2ba30d6f8341363a0b29bc5ff7b33febc8baa2	Maternal phenylketonuria (MPKU) is known to affect fetal outcome, often being associated with @PHENOTYPICFEATURE$ and @DISEASE$ (CHD) if the maternal diet is not appropriately managed.	false
+9a9c5297e3000d6f649944c857624d843bc49afe	Maternal phenylketonuria (MPKU) is known to affect fetal outcome, often being associated with @PHENOTYPICFEATURE$ and congenital heart defects (@DISEASE$) if the maternal diet is not appropriately managed.	false
+fb47fd35508d6e396fca39e07611a9e4ee995654	@DISEASE$ (MPKU) is known to affect fetal outcome, often being associated with @PHENOTYPICFEATURE$ and congenital heart defects (CHD) if the maternal diet is not appropriately managed.	false
+626b10153a5473e49a27cf41a54a0be1478ba29c	She had multiple linear scleroderma lesions on her trunk and left limbs, left @PHENOTYPICFEATURE$, impairment of vertical movement and abduction of the left eye, left @DISEASE$, and weakness and atrophy of the sternocleidomastoid, trapezius, and proximal limb muscles on the left side.	has_symptom
+2b0a6e637d5a79eb3e1fb825807bd71c4083edba	She had multiple linear @PHENOTYPICFEATURE$ lesions on her trunk and left limbs, left eyelid ptosis, impairment of vertical movement and abduction of the left eye, left @DISEASE$, and weakness and atrophy of the sternocleidomastoid, trapezius, and proximal limb muscles on the left side.	false
+90ce5be060f13a7248312d4a53eba48b2f69606b	She had multiple linear @PHENOTYPICFEATURE$ lesions on her trunk and left limbs, left @DISEASE$, impairment of vertical movement and abduction of the left eye, left hemifacial atrophy, and weakness and atrophy of the sternocleidomastoid, trapezius, and proximal limb muscles on the left side.	false
+42a6dabf4bad09c3fdb5e58f1535a24eebbce032	Associated features which have been described are @PHENOTYPICFEATURE$, Rieger's anomaly, Prader Willi syndrome, @DISEASE$ and neurofibromatosis.	has_symptom
+1c5dc6f5e5ce7fd4bd6c02682274d5f7a5f28ed6	The authors describe four patients with Parry-Romberg syndrome (PRS) who had abnormal eye movements, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+3aab04bc71024065bfbf193c9bf0e909eeaafc0a	The authors describe four patients with @DISEASE$ (PRS) who had abnormal eye movements, @PHENOTYPICFEATURE$, and facial hemiatrophy.	has_symptom
+47a7998b7447315c7a86733ba1911134151987be	The authors describe four patients with Parry-Romberg syndrome (PRS) who had @PHENOTYPICFEATURE$, @DISEASE$, and facial hemiatrophy.	false
+d180eaf91e6e25e8a4fc97f3ded008e99849a410	The authors describe four patients with @DISEASE$ (PRS) who had @PHENOTYPICFEATURE$, ptosis, and facial hemiatrophy.	false
+176f9f14b11866f5bb38516531cfeb2e4fb1940c	The authors describe four patients with Parry-Romberg syndrome (PRS) who had @PHENOTYPICFEATURE$, ptosis, and @DISEASE$.	false
+757d235501aa05f01fd9a63c2cd7f5b3008cb645	The authors describe a patient with @DISEASE$ (PRS) who had acquired monocular elevation deficit (MED), @PHENOTYPICFEATURE$, and facial hemiatrophy.	has_symptom
+76927f4b9c80a67ab4c2391f5e7405dff2ea68c5	The authors describe a patient with Parry-Romberg syndrome (PRS) who had acquired monocular elevation deficit (MED), @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+dad7da180dd22278c19cbb2acd0d9e0cf1eaaabf	Case 1 was a 23-year-old woman with lateral rectus paresis who presented with horizontal diplopia and developed @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+53045b7bf5324b1dab7f863662b683eac28a6755	Detailed study of the relationship between seizure activity and @PHENOTYPICFEATURE$ in @DISEASE$ is needed.	has_symptom
+1567db818051b32f79200033f033c3d754a562fb	Detailed study of the relationship between @PHENOTYPICFEATURE$ activity and sleep disturbance in @DISEASE$ is needed.	false
+f0250f8718d64c6b59e89753a4daa7468661c195	Detailed study of the relationship between @PHENOTYPICFEATURE$ activity and @DISEASE$ in tuberous sclerosis is needed.	false
+36cd99df994ca77d6421542909061d3d486bad38	Hypothalamic orexin and mechanistic target of rapamycin activation mediate @PHENOTYPICFEATURE$ in a mouse model of @DISEASE$.	has_symptom
+1edacae854725857e39171b6a8d7a862edde3512	An adult cohort with @DISEASE$ was investigated for the prevalence of @PHENOTYPICFEATURE$ and the relationship with seizure variables, medication, and psychological functioning.	has_symptom
+7a7012c1275a194b336e5d4852fa759630a37e2f	An adult cohort with tuberous sclerosis complex was investigated for the prevalence of @DISEASE$ and the relationship with @PHENOTYPICFEATURE$ variables, medication, and psychological functioning.	false
+2c906a59bf8f8253abbb67de6bbf2658c398483e	An adult cohort with @DISEASE$ was investigated for the prevalence of sleep disturbances and the relationship with @PHENOTYPICFEATURE$ variables, medication, and psychological functioning.	false
+f344ac529899c626054034700eb032f0a8310754	@PHENOTYPICFEATURE$ is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and @DISEASE$ (TSC).	has_symptom
+5a2b62c523519b95a332d731da7e9c4c15a58612	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), @DISEASE$ (NNS) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	has_symptom
+19eb6980027f0f1fb66f501c6a5be4317a00928d	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (@DISEASE$) and @PHENOTYPICFEATURE$, muscle atrophy, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	has_symptom
+56346b6ede6299ea2a24c2be283a2cac9cb50414	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with @DISEASE$ (JASL), Nakajo-Nishimura syndrome (NNS) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+9370828af3beb5187d382eaf5891178f1e19df2a	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (@DISEASE$) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+21bd4226b391e2570ec244a7282d785967169f54	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic @DISEASE$ with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+a471b88bcc3eeb83a09a23c4a74b19c5ca13e028	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese @DISEASE$ with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+488e8f8d0693960aa0bb16290e7de77e17e5638a	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with @DISEASE$ and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+49a4a5d4962bf885ba31d80847b2c887418bd34e	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), @DISEASE$ (NNS) and joint contractures, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+eb339c131002ade31f507f130f8faefca9906080	Despite the tremendous success of IL-1 blocking therapy, the use of these agents in a wider spectrum of autoinflammatory conditions has uncovered disease subsets that are not responsive to IL-1 blockade, including the recently discovered proteasome-associated autoinflammatory syndromes such as chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures (CANDLE), Japanese autoinflammatory syndrome with lipodystrophy (JASL), Nakajo-Nishimura syndrome (NNS) and @DISEASE$, @PHENOTYPICFEATURE$, panniculitis induced lipodystrophy (JMP), and urge the continued quest to characterize additional dysregulated innate immune pathways that cause autoinflammatory conditions.	false
+9208a7b2ab38d2424b92710a372d60e760576ef0	The disease spectrum currently known as the proteasome-associated autoinflammatory syndromes (@DISEASE$) was first described in 1939 in patients who presented with recurrent fevers beginning in infancy or early childhood, which were accompanied by nodular erythema, a pernio-like rash, and @PHENOTYPICFEATURE$.	has_symptom
+eca1282f3029cc9c2fd907f856efd7d560fe5e28	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (@DISEASE$), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	has_symptom
+97c6e63d900598bec8c85bb7240a75e12054076f	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, @DISEASE$ (NNS), @PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	has_symptom
+f93093afdea87b49edc094a8d4c2a84a0771ba38	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese @DISEASE$ with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+2442404b5dabc6e0c395d88c77683795586c40b7	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, @DISEASE$ and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+d23beb2e4bfaff31053d69de2b6215e4bc96755e	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) @DISEASE$, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+54499789c0ee428c25d8659d910e3bbb51f5c95d	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and @DISEASE$-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+d8a21fd730e6d62626cb297bd9da7d90bb3fcf13	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with @DISEASE$ (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+be7035170a76e65f78200fc4613d7167d3245730	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) @DISEASE$, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+002c82bd332bb6df06b28f4fadd94c1d9b0c3ed3	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with @DISEASE$ and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+e0ba5070fd44cdb8fed390b2a601a1bfc7db7bf8	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), @DISEASE$, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+a1f816583c5250e16c758ed29b3aa8468fd57d1a	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, @DISEASE$ (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+462fdc4ba041e98168e40bf97ccaabfee966f0a9	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (NNS), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced @DISEASE$ (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+ffe01ce5978d248e2e4cc9be25a53830998694f4	Since then, several syndromes, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Nakajo-Nishimura syndrome (@DISEASE$), joint contractures, @PHENOTYPICFEATURE$, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome, and Japanese autoinflammatory syndrome with lipodystrophy (JASL), have been used to categorize patients with diseases within the same spectrum.	false
+ac84fb499126a6cbf585d4bbd568490efe30ceec	@DISEASE$ is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (@PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	has_symptom
+d44d7b6b2db57151f2639c41e63749a05ad98774	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "@DISEASE$ (@PHENOTYPICFEATURE$, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	has_symptom
+98c26e0fa2a5e22491ee1f9691792041069d6abd	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, @PHENOTYPICFEATURE$, microcytic anemia, and panniculitis-induced childhood-onset @DISEASE$) in adults.	false
+980f4589dbd6eb6ee0ad351ca76f12937bf8d7b8	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (@DISEASE$, @PHENOTYPICFEATURE$, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+5b7114b473738677eb93011ffbd5118ea9909548	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "@DISEASE$ (joint contractures, @PHENOTYPICFEATURE$, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+5be15fcd3a7271458a02c2435f3ee03edbb9c803	@DISEASE$ is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, @PHENOTYPICFEATURE$, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+a0622c7d9a24995c74f46c03a0669024c5b58ae5	CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause "JMP" syndrome (joint contractures, @PHENOTYPICFEATURE$, @DISEASE$, and panniculitis-induced childhood-onset lipodystrophy) in adults.	false
+ae00c1eafa3352d742c3ebcf37b3dd617f934992	@DISEASE$ (CHH), or @PHENOTYPICFEATURE$ McKusick type, classically comprises short stature and scant fine hair.	has_symptom
+ccb0ec5787a7e8ac2cbbd753c7959e98e7a1b82f	Cartilage hair hypoplasia (CHH), or @DISEASE$ McKusick type, classically comprises @PHENOTYPICFEATURE$ and scant fine hair.	false
+8f004971f27da17984097d74841d568365278627	@DISEASE$ (CHH), or metaphyseal dysplasia McKusick type, classically comprises @PHENOTYPICFEATURE$ and scant fine hair.	false
+205a1e03b8f785e44920f4efb137e5d718bc5a6c	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations.	has_symptom
+42b185020c2a4054d3c75a4b5661bfb042524eaa	Among children with recessive @PHENOTYPICFEATURE$, @DISEASE$, as described by McKusick is often recognized only during the 2nd year or later.	has_symptom
+6756ec3bc4c06d317de1c95f36a2006d5e041d3e	Molecular confirmation of MDST allows distinction of it from dominant conditions (e.g., @PHENOTYPICFEATURE$, Schmid type; OMIM # 156500) and from more severe multi-system conditions (such as @DISEASE$; OMIM # 250250) and to give precise recurrence risks and prognosis.	has_symptom
+f3ecac0a8a5384079e487db91ee225067301ef0f	@DISEASE$ (CHH) is characterized by @PHENOTYPICFEATURE$, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency.	has_symptom
+e2aff4f16ad9ef086ffabdcaa5849a5e6df98cae	@DISEASE$ (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, @PHENOTYPICFEATURE$, anemia, immune deficiency, and increased incidence of cancer.	has_symptom
+65d0814eb6b5ca8adb54694d74371b1d6c2a3127	@DISEASE$ (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including @PHENOTYPICFEATURE$, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer.	false
+3bbee82b677a294e6c574feeff1292b00a821f7c	Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including @PHENOTYPICFEATURE$, sparse hair, @DISEASE$, anemia, immune deficiency, and increased incidence of cancer.	false
+9007b4b73f1c6c6b6f6ee832dc2a13a408c9567c	Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including @PHENOTYPICFEATURE$, sparse hair, metaphyseal dysplasia, @DISEASE$, immune deficiency, and increased incidence of cancer.	false
+fa0659170a9598b13db2f1cdc122bc1eb445cd0d	Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including @PHENOTYPICFEATURE$, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of @DISEASE$.	false
+6bb058ec16ac9ded0c0363c5c0a9612263462736	@DISEASE$ (CHH), or @PHENOTYPICFEATURE$, McKusick type, is an autosomal recessive disease with diverse clinical manifestations.	has_symptom
+80bc0872dba57e6deb358da5ed362cd0978b8b0e	@PHENOTYPICFEATURE$ in siblings: a variant of @DISEASE$.	has_symptom
+6ed15231b020946672dc3b719ab14d3a1e8ddca3	@DISEASE$ is an autosomal recessive disorder, characterized by short stature, @PHENOTYPICFEATURE$, hypotrichosis and immunodeficiency.	has_symptom
+0e7ef9f9c6ddea237132f47228eaa8357b8f876e	@DISEASE$ is an autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, metaphyseal dysplasia, hypotrichosis and immunodeficiency.	false
+79764a6c4adb7f99af8a38a4931d259c1ac095cd	Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, metaphyseal dysplasia, @DISEASE$ and immunodeficiency.	false
+5f3e45c8b48e17e3f68738ccd4b87ba3a8b37c09	Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, @DISEASE$, hypotrichosis and immunodeficiency.	false
+64d0e2c0dc293d921bcf67e9a193fc4ff978345a	Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, metaphyseal dysplasia, hypotrichosis and @DISEASE$.	false
+7d130aedd7acdc508c65a8b4e2041092a70594fa	@DISEASE$ patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, @PHENOTYPICFEATURE$ and hypohidrosis, acrocyanosis and distal transverse nail bands.	has_symptom
+da1daf0a5fdf76a29a3ac2840c26e0b29cd4eb68	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, thick skin, hyperhidrosis and @PHENOTYPICFEATURE$, acrocyanosis and distal transverse nail bands.	false
+90ee36f0a4fe834528abfec284be5889fb5d8a2b	@DISEASE$ patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+70a33dd236af5281aa723ca8f21e5717605defcf	@DISEASE$ patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, hyperhidrosis and @PHENOTYPICFEATURE$, acrocyanosis and distal transverse nail bands.	false
+65b50a631039ac40202e311fe6658e3a755acccb	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, @PHENOTYPICFEATURE$, @DISEASE$ and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+aea49cec48ee7aeb018c05936e937b1d72e8f5ac	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+aebc1506cc57b914b246adef44b4bf611d78b8ec	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, @DISEASE$ and @PHENOTYPICFEATURE$, acrocyanosis and distal transverse nail bands.	false
+cbcff7643d612eef4d263d86a26828009ce0e82e	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread @DISEASE$, thick skin, hyperhidrosis and @PHENOTYPICFEATURE$, acrocyanosis and distal transverse nail bands.	false
+8daa39ee310981d7447b31e531eb9e9fa087fcba	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread @DISEASE$, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+004692288bce915824e3253d2b6ecd12cffae9be	Stuve Wiedemann syndrome (@DISEASE$) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, facial dysmorphism, hypotonia, feeding and @PHENOTYPICFEATURE$, and respiratory distress.	has_symptom
+99834c26c331fa68d490b965cd2eb8120a74138b	Stuve Wiedemann syndrome (SWS) is an autosomal recessively inherited @DISEASE$ which is characterized by bowing of the long bones, camptodactyly, @PHENOTYPICFEATURE$, hypotonia, feeding and swallowing difficulties, and respiratory distress.	false
+e5fd63f67605eb8b2845c6380a7c1616a72f281f	Stuve Wiedemann @DISEASE$ (SWS) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, @PHENOTYPICFEATURE$, hypotonia, feeding and swallowing difficulties, and respiratory distress.	false
+ba280b7dd7b094c3d2953fd51a74d71bdd3b94f6	Stuve Wiedemann syndrome (SWS) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, @PHENOTYPICFEATURE$, hypotonia, feeding and @DISEASE$, and respiratory distress.	false
+8dddff4de245a87631350876c3005b1bf83b9396	Stuve Wiedemann syndrome (@DISEASE$) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, @PHENOTYPICFEATURE$, hypotonia, feeding and swallowing difficulties, and respiratory distress.	false
+3b1d1dad2f750e41a494fb275af9281c71aea790	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	has_symptom
+355cd1c4b23b1b78eb205e2b24ec5424b493af4c	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial @DISEASE$ with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+e9bbafd8a650e3007bc946f861b3fccf64d1f73d	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial @DISEASE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+4cab380a19135e0457a0a6678852b6057addc71c	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, @DISEASE$ and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+2af0baec885f50cfe297e796f19fb1eb414af9be	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+87df427fa8a652cfc21ff7e778947542c0e45aa6	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+b611205b56833d6d262585eabea62d2d35742e2e	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+7fd5596e294ceb1fd9b6705f804294a604e3470b	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial @DISEASE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+d04a4c76223e6ee3b6682cf9e0d710d25afbf6c1	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+2bd8a0113d96e53d5fb3c8721b90dd6286f5afc2	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial @DISEASE$ with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+52b0bd4a00bc53d57abd1c43fe53a4b52023e640	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+96e430585a31e435e86c26741dd02ed0638acfd4	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	has_symptom
+d0da8dabf61ebdd1ff8e1126eb9132f29b7f5a7b	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial @DISEASE$ with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+7370f9726cb6bab0ec1eea3dba9791a2b82bdc4f	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+f635df82261c4b826441791f6edc06bc744a49a1	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial @DISEASE$ with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+cdf402ce698a4a096b6c04a3f6c93654f7da4243	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+afd2eedff4b3807deb742e5c1a8190b54061b211	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, @DISEASE$ and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+06c15d6b89c4f91c9c0a08abbfadcf0e1f4c7e5c	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+589216853fa1c360958f8df3dc5d27d797120f20	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+02dc0ed6872cbafa6f3646e9f709a5b00254f8a5	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant @DISEASE$.	false
+6e692b07368c92934de98ec5111918cbe3ed8703	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial @DISEASE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+c0ead4f30af8505fae86ad29be0858740253b3c8	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+73da9cf216792bad9365155c441e6eaa78c73642	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant @DISEASE$.	false
+4bfaf9fdc76b065c746b9767e862edfcd1390f2c	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial @DISEASE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+ff23576ee16ba4a4e44186ddf981a2d448b93595	The patient with @DISEASE$ type II presented with bilateral complete osseous @PHENOTYPICFEATURE$ of the hands, and bilateral complete cutaneous syndactyly of feet.	has_symptom
+fd17d0489ca6499b1c2d818c9ba0759c714c6501	HRQoL outcomes after DBS along with motor outcomes were reported in a total of 36 articles involving 610 patients: 21 articles on inherited or idiopathic isolated dystonia, 5 on tardive dystonia, 3 on cerebral palsy, 2 on @PHENOTYPICFEATURE$-dystonia, 1 on @DISEASE$, and 3 on mixed cohorts of different dystonia subtypes.	has_symptom
+b8a1db5e173ae7e44eea07ee1050235c21d4bf7e	Fifty-nine patients with AIDS, @PHENOTYPICFEATURE$, and presenting @DISEASE$ (PCP) were included in a prospective, randomised, controlled study.	has_symptom
+0fedfba30c820b935abf06c8ad431793e3858bf6	@DISEASE$ syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, @PHENOTYPICFEATURE$, and cryptorchidism).	has_symptom
+a6364e573c1e1ac6777dbd6bae97fe62960e08a7	Prenatal molecular diagnosis of a severe type of @DISEASE$ (X-linked @PHENOTYPICFEATURE$).	has_symptom
+0922aae93dc38e4e18abe3bcca8425db6e4606e6	X-linked @PHENOTYPICFEATURE$ and the X-linked @DISEASE$ (Mental retardation.	has_symptom
+e959e53a16ac63207b7c74fe171a861e32ce0362	X-linked @DISEASE$ and the X-linked MASA syndrome (@PHENOTYPICFEATURE$.	false
+f73101b6b589e6abec7c298553bf7cc3c09ca99c	X-linked hydrocephalus and the X-linked @DISEASE$ (@PHENOTYPICFEATURE$.	false
+4db8ae3aa8e591e7d278b722302f975b7ba11719	The spectrum of "complicated spastic paraplegia, @DISEASE$ and X-linked @PHENOTYPICFEATURE$".	has_symptom
+16a5d859d567c34a069a06e2df8d6c59bb2d4ad0	Linkage studies have localized the disorder to the Xq28 region, close to the loci for X-linked @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ea2d69d489e02b53716a59b87fa2c9a2497a3f7c	X-linked @PHENOTYPICFEATURE$, spastic paraplegia type I and @DISEASE$ are related disorders with loci in subchromosomal region Xq28.	has_symptom
+e71abe4af03325b76c434479eef645600a829c2e	X linked @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3229e0938e0775ecd9be91acef2f77048c2e2608	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, spasticity and @PHENOTYPICFEATURE$).	has_symptom
+03561874b218f94154388d47e7bfdf1ef77776f8	SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and @DISEASE$).	false
+2cfce3757e826972ed54cc9474263cfc553254e6	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and hydrocephalus).	false
+7f3568f021220b170845862ab708a21504c6b566	X linked @PHENOTYPICFEATURE$ and @DISEASE$ are clinically related, neurological disorders with an X linked recessive mode of inheritance.	has_symptom
+8ca0efc0dd2a87013c1b87209d4ee62c2f392d3f	The hemizygous L1CAM variant p.G452R, previously implicated in patients with @DISEASE$, was identified in patient 5, who presented with antenatal @PHENOTYPICFEATURE$.	has_symptom
+8ff5835e1d62364dd315709f7c4d45bdd3fede55	X-linked @PHENOTYPICFEATURE$ is certainly the most prominent symptom of @DISEASE$.	has_symptom
+b0a178518c283de2166e4dbd563368dcad8b0f59	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one autoimmune hepatitis and one @DISEASE$.	has_symptom
+d34af07447247c5a7be01384019b83bd71b28e88	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), fever (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @PHENOTYPICFEATURE$, one autoimmune hepatitis and one @DISEASE$.	false
+86f42a2056baf4be08e02c2186670f6a56b65cd4	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), fever (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @PHENOTYPICFEATURE$, one @DISEASE$ and one pyoderma gangrenosum.	false
+ad1879a84242fe59ea5fc17914753a9837209ae8	The basic signs of the disease involved chronic mucosal haemorrhagic @DISEASE$ which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), fever (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @PHENOTYPICFEATURE$, one autoimmune hepatitis and one pyoderma gangrenosum.	false
+7c83a85cd569a47034fe169946dc11918558dc7b	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @DISEASE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @PHENOTYPICFEATURE$, one autoimmune hepatitis and one pyoderma gangrenosum.	false
+dda82772d5d40c9609817bed2b7b6a03e6cb027f	The clinical features are recurrent episodes of @PHENOTYPICFEATURE$, painful arthritis, and skin lesions consistent with HS, acne, and @DISEASE$ (PG) accompanied by elevated systemic inflammatory markers in blood.	has_symptom
+e7d54ddc9597f911ad6d5dcf73171d6ca41a9347	To describe Okihiro syndrome, a syndrome consisting of @DISEASE$, radial ray anomaly, and @PHENOTYPICFEATURE$.	has_symptom
+b1953bd59f743fb95342491c9072c390726317b1	However, 44% had both @DISEASE$ and radial ray anomaly, whereas @PHENOTYPICFEATURE$ alone occurred in only 17% of patients.	has_symptom
+7e0609a8844a5f5e76467cd3f35a2aa975ea815b	One patient with @DISEASE$ had profound sensorineural hearing loss with a pure tone average of 110 dB, and one patient had moderate @PHENOTYPICFEATURE$ with a pure tone average of 60 dB.	has_symptom
+02f6310eb63a11b228aef62690d2032b7742ba77	One patient with @DISEASE$ had profound @PHENOTYPICFEATURE$ with a pure tone average of 110 dB, and one patient had moderate sensorineural hearing loss with a pure tone average of 60 dB.	has_symptom
+69225236761bf02c68ad49efc3260e171e35bf70	Okihiro syndrome is consistent with autosomal dominance with variable penetrance, manifesting primarily with @DISEASE$ and radial ray anomaly, and less frequently, @PHENOTYPICFEATURE$.	has_symptom
+19bbde520f85c012961f8b5c55e403f333e0e499	Children with @PHENOTYPICFEATURE$, @DISEASE$ and anorectal anomalies are at risk for latex allergy.	has_symptom
+0100df9bac4f53fe343607a3c48ab09820955086	To describe prenatal ultrasound and autopsy findings in fetuses with OEIS (omphalocele, @DISEASE$, imperforate anus, @PHENOTYPICFEATURE$) complex.	has_symptom
+8c1ea0be3bcb702b60439bf302b69fd3e0196161	The most common underlying causes of bladder dysfunction that may require reconstruction include neuropathic bladders associated with @PHENOTYPICFEATURE$, posterior urethral valves, and @DISEASE$.	has_symptom
+09482f45ae9c8379c02d7a70b3d4870abcd6c628	Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, @DISEASE$, an imperforate anus and @PHENOTYPICFEATURE$.	has_symptom
+407c02ed8892111994e9ed6105951e01602469db	It is indicated for patients with anomalies such as @PHENOTYPICFEATURE$, myelomeningocele, urethral valve and @DISEASE$, who progress with low tolerance of medication.	has_symptom
+270e4697899a3a01410165e410655d2e04025a2c	Complex genitourinary patients were defined broadly as those with a history of: @PHENOTYPICFEATURE$, @DISEASE$, cloacal exstrophy, cloacal anomalies, posterior urethral valves or disorders of sex development.	has_symptom
+1f5f0e77923a28b92da821e546a3983161292b83	@PHENOTYPICFEATURE$ and @DISEASE$ were the most common diagnoses of patients undergoing gastrocystoplasty.	has_symptom
+63f7811a37e7a5846911c81a46bb853585bec765	Other than the four classical malformations, omphalocele, @DISEASE$, imperforate anus, and spine malformation, a strong association with @PHENOTYPICFEATURE$ and intersex was stressed.	has_symptom
+160404ef42dca1def0f94a5841c15108c43424a2	The group consisted of 5 patients with @PHENOTYPICFEATURE$, 1 with sacral agenesis, 1 with classic @DISEASE$ and 1 with bladder dysfunction secondary to posterior urethral valves.	has_symptom
+3342bde99751743e629c690072f80a4f6a14551c	The most common causes of pediatric bladder dysfunction necessitating surgical intervention are those associated with @PHENOTYPICFEATURE$/myelodysplasia, posterior urethral valves, and @DISEASE$.	has_symptom
+9a2473ff90e1909ca3a3e13b7b0210d502e466e6	@DISEASE$ is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, @PHENOTYPICFEATURE$, pyramidalism and extrapyramidal symptoms in variable combinations,with subcortical encephalopathy and cerebral atrophy in neuroimaging studies.	has_symptom
+258c7816b0b28cde466eaa5ab044330c16554ce2	L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive @DISEASE$, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations,with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+d449f769294fad8d4ef52204442a420e6a47ff23	L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, @DISEASE$, pyramidalism and extrapyramidal symptoms in variable combinations,with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+d996189d240258615615d5af263a3f4e57b21c2e	@DISEASE$ is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations,with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+7bf3f6d97a1965194c5f43f6eba00286a2c19251	@DISEASE$ is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, @PHENOTYPICFEATURE$, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and cerebral atrophy in neuroimaging studies.	has_symptom
+d36767a85b0e49ccd64ad44efa11ce81232c12f1	@DISEASE$ is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+e22874cab45ce15539a376d4f989d58d9f033635	L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, @DISEASE$, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+e48b936a1c2c070eaaa1fa114bec477eaa95d06d	L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive @DISEASE$, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+b49414fbc571c06e1f7fdb6421e9554cf75c4c02	@DISEASE$ is an autosomal recessive condition causing severe @PHENOTYPICFEATURE$ with proximal joint contractures and distal hyperlaxity.	has_symptom
+a2b2cc7c44b13ae208d880284c045ed017616903	@DISEASE$ is an autosomal recessive condition causing severe muscle weakness with proximal @PHENOTYPICFEATURE$ and distal hyperlaxity.	false
+28566420437ce77798b98b4b52ad397d9028278f	UCMD is an autosomal recessive condition causing severe @DISEASE$ with proximal @PHENOTYPICFEATURE$ and distal hyperlaxity.	false
+943c0e4decc369555c32b7541de67195faca13a5	Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (@DISEASE$), a frequently severe disorder characterized by congenital @PHENOTYPICFEATURE$ with joint contractures and coexisting distal joint hyperlaxity.	has_symptom
+d00d02f740d2b1b8c3e73216122fcb639d76b310	Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause @DISEASE$ (UCMD), a frequently severe disorder characterized by congenital @PHENOTYPICFEATURE$ with joint contractures and coexisting distal joint hyperlaxity.	has_symptom
+857d52b5750ce847dbcb21b3516676ed478df814	Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital @DISEASE$ with @PHENOTYPICFEATURE$ and coexisting distal joint hyperlaxity.	false
+c63516f354f1e1e4a16d80ab53ece8567c00cb6e	Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause @DISEASE$ (UCMD), a frequently severe disorder characterized by congenital muscle weakness with @PHENOTYPICFEATURE$ and coexisting distal joint hyperlaxity.	false
+e0d89ebd905bd2ab4beb5386b0e5a124ca4c034b	Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (@DISEASE$), a frequently severe disorder characterized by congenital muscle weakness with @PHENOTYPICFEATURE$ and coexisting distal joint hyperlaxity.	false
+5085abb7eb3957a1db07dc6dd33fd5191815bdd6	@DISEASE$ (UCMD) is an autosomal recessive disorder characterized by generalized @PHENOTYPICFEATURE$, contractures of multiple joints, and distal hyperextensibility.	has_symptom
+48e986cec0c8f9f1faaf66e53674e65efd86888d	Ullrich congenital muscular dystrophy (@DISEASE$) is an autosomal recessive disorder characterized by generalized @PHENOTYPICFEATURE$, contractures of multiple joints, and distal hyperextensibility.	has_symptom
+8cacfc58390739eeab75009511e0ad2169998438	Ullrich congenital muscular dystrophy (@DISEASE$) is an autosomal recessive disorder characterized by generalized muscular weakness, @PHENOTYPICFEATURE$ of multiple joints, and distal hyperextensibility.	false
+0b873833a763d504ce81d41405db3857cac861a4	Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized @DISEASE$, @PHENOTYPICFEATURE$ of multiple joints, and distal hyperextensibility.	false
+843aeee94568c508e0a8ff25ff70408e4e3c374b	@DISEASE$ (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, @PHENOTYPICFEATURE$ of multiple joints, and distal hyperextensibility.	false
+68eb4d0b33f62f1f9cf4bac2f1371ec3e20ebfdd	@DISEASE$ usually manifests in the neonatal period with poor feeding, vomiting, lethargy, muscular hypertonicity, @PHENOTYPICFEATURE$, coma and death.	has_symptom
+ca2a51ce87944180df76bd37acf5075fe3d8663d	Classic MSUD usually manifests in the neonatal period with poor feeding, vomiting, lethargy, muscular @PHENOTYPICFEATURE$, @DISEASE$, coma and death.	false
+73041b25dbf29215a22243e35a353bbe5c11fe11	@DISEASE$ usually manifests in the neonatal period with poor feeding, vomiting, lethargy, muscular @PHENOTYPICFEATURE$, seizure, coma and death.	false
+d6fd699179c12a41cf26427cfdfa64bfdcfd68d0	Classic MSUD usually manifests in the neonatal period with poor feeding, @PHENOTYPICFEATURE$, lethargy, muscular hypertonicity, @DISEASE$, coma and death.	false
+196e2ba2d091902404ba38209f8e6b99f401560a	@DISEASE$ usually manifests in the neonatal period with poor feeding, @PHENOTYPICFEATURE$, lethargy, muscular hypertonicity, seizure, coma and death.	false
+13377233e29d7f9f69aac463c05f88b356aa84ea	Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an @DISEASE$ and a dominantly inherited @PHENOTYPICFEATURE$ type 1B.	has_symptom
+38a1cb98af5e3df8b368414c05c05aefb1ad83bf	The noncanonical Wnt receptor and tyrosine kinase Ror2 has been associated with recessive Robinow syndrome (@DISEASE$) and dominant @PHENOTYPICFEATURE$ type B1.	has_symptom
+4cd5bd6311d12dd87f5f6fcc896151174ac07b50	One gene, two phenotypes: ROR2 mutations in @DISEASE$ and autosomal dominant @PHENOTYPICFEATURE$ type B.	has_symptom
+338f8fcf94fe84077ac9538e5ef6d7e7d46e018d	@DISEASE$ (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	has_symptom
+fb24e1c83c8f6bcb70147bf2069d7289a5790d29	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	has_symptom
+63a28bf13bb141590dc15ac8c9249a2d3331f648	@DISEASE$ (RRS) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+3893412ec2aeb2fa894647419f72d00af0eab054	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, @DISEASE$, and a dysmorphic facial appearance.	false
+472010d885ad58058e36e7475bb76edfe29484a0	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic @DISEASE$ appearance.	false
+6e00ca7fe30c75c6bdf051705e0fe79653066a35	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+2a3abe12189f812e913f648282332db0e1cfa455	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+f2b968f0c327e8286a73a65e84ff0d29c77307ff	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with @PHENOTYPICFEATURE$, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic @DISEASE$ appearance.	false
+84ddc92f24b93b9c0e85f5166b829335425ed8c4	@DISEASE$ (RRS) is a severe skeletal dysplasia with @PHENOTYPICFEATURE$, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+72a94472a705ba5d4bcf3a28786ac017fcf3a1ba	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with @PHENOTYPICFEATURE$, generalized limb shortening, segmental defects of the spine, @DISEASE$, and a dysmorphic facial appearance.	false
+c775441d010ecddb38ebc3b98e249486ebbd4328	@DISEASE$ (RRS) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+dbaa408c58a26ad33b5786deed6a5889df449cd2	Autosomal recessive Robinow syndrome (RRS) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic @DISEASE$ appearance.	false
+4e17d6cd50f3b557b8b3fb04b8a12208f20289be	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with @PHENOTYPICFEATURE$, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+ab6b42da148e6f0711d61e6008d68950e4727bdf	Autosomal recessive Robinow syndrome (RRS) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, @DISEASE$, and a dysmorphic facial appearance.	false
+455e1448fe93fddc43c002148f6d3f381a583da8	Mutations in ROR2 cause dominant @PHENOTYPICFEATURE$ type B (BDB1) or recessive Robinow syndrome (@DISEASE$), each characterized by a distinct combination of phenotypic features.	has_symptom
+e75968b48c0e5d265a206be321ccdc17921c37dc	@DISEASE$ is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, @PHENOTYPICFEATURE$, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.	has_symptom
+f28c220a68607e30165b8c492df8c2eeacdfb75e	@DISEASE$ is caused by mutations in ROR2 and is characterized by short stature, @PHENOTYPICFEATURE$, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.	false
+9d7c6a801eb900daa895e578c4810c076bc41aa0	Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, @PHENOTYPICFEATURE$, @DISEASE$, vertebral abnormalities, and a characteristic "fetal face" dysmorphology.	false
+87dcac10d114fb1dae84a90f49ad6b5e87dd0209	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (@DISEASE$), a severe skeletal dysplasia with limb shortening, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	has_symptom
+f7a7542bf9cc8c68532c3d4bb9bdaaac59d9ad37	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause @DISEASE$ (RRS), a severe skeletal dysplasia with limb shortening, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	has_symptom
+d2aeee47f60f433505b6584e5346164d94c66f94	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (@DISEASE$), a severe @PHENOTYPICFEATURE$ with limb shortening, brachydactyly, and a dysmorphic facial appearance.	false
+65f384b5caaf96b4b2ba45532d05af7698cb1b06	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (RRS), a severe @PHENOTYPICFEATURE$ with limb shortening, brachydactyly, and a dysmorphic @DISEASE$ appearance.	false
+1064815e1fa48cf3a63a597fc3bda1fce53068c4	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (RRS), a severe @PHENOTYPICFEATURE$ with limb shortening, @DISEASE$, and a dysmorphic facial appearance.	false
+58fd0ef1fa1ac333683d57a370eebd3e851ea780	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause @DISEASE$ (RRS), a severe @PHENOTYPICFEATURE$ with limb shortening, brachydactyly, and a dysmorphic facial appearance.	false
+92cf5618bc5a7c32f6a61c9c0d88dadd7a35a3f0	Mutations in ROR2, encoding the receptor tyrosine kinase-like orphan receptor 2, cause two distinct skeletal diseases: autosomal dominant @PHENOTYPICFEATURE$ type B1 (BDB1) and @DISEASE$.	has_symptom
+80024668b9d3b5766910e0a8cf3863b777742856	We here report a novel nonsense mutation in ROR2 (c.1324C>T; p.R441X) causing intracellular protein truncation in a patient exhibiting features of @DISEASE$ in conjunction with severe recessive @PHENOTYPICFEATURE$.	has_symptom
+54560e3ce7a823fab9687fa5b68df990a8aedf6f	In humans, mutations in the ROR2 gene cause two distinct developmental syndromes, recessive Robinow syndrome (@DISEASE$; MIM 268310) and dominant @PHENOTYPICFEATURE$ type B1 (BDB1; MIM 113000).	has_symptom
+e1de750d7ea64356465fa914e94741919fdcda4b	The main respiratory complication stemming from @PHENOTYPICFEATURE$ is @DISEASE$ (OHS).	has_symptom
+e655077527ec4150698751aa74e4900b4e64f44f	Our understanding of @PHENOTYPICFEATURE$-associated asthma, obstructive sleep apnea, and @DISEASE$ is still expanding.	has_symptom
+0140ccc9e1b6f1f36245ed0c7adbad301c847aed	Our understanding of obesity-associated @DISEASE$, @PHENOTYPICFEATURE$, and obesity hypoventilation syndrome is still expanding.	false
+a91377ef5a0492df43818f0f3f3a5e5d646451d2	Our understanding of obesity-associated asthma, @PHENOTYPICFEATURE$, and @DISEASE$ is still expanding.	false
+bef107ca58853c20f1352a8af895a1985d225ff0	Our understanding of @DISEASE$-associated asthma, @PHENOTYPICFEATURE$, and obesity hypoventilation syndrome is still expanding.	false
+cfa2adfd232594c707a3a8cb8f48af0317d00eb3	@DISEASE$ (OHS) consists of a combination of @PHENOTYPICFEATURE$ and chronic hypercapnia accompanied by sleep-disordered breathing.	has_symptom
+e1a5c6daa22c8fb0274e589c6f68dc15e005d9e6	The @DISEASE$ (OHS) refers to the combination of @PHENOTYPICFEATURE$, daytime hypercapnia and sleep-disordered breathing.	has_symptom
+8f3f3d07f4b9b228ce74ab68709a419530daf899	@DISEASE$ describes the association between @PHENOTYPICFEATURE$ and the development of chronic daytime alveolar hypoventilation.	has_symptom
+2538ed6b2d31e9749fa7b688ebca289d2b3b05c5	Weight reduction is valuable therapy for patients with @PHENOTYPICFEATURE$ and pulmonary dysfunction, obesity and obstructive sleep apnea, and @DISEASE$.	has_symptom
+aaf5f04dc16d6339d38da442a9e5182521b410cc	Weight reduction is valuable therapy for patients with obesity and pulmonary dysfunction, @PHENOTYPICFEATURE$ and obstructive sleep apnea, and @DISEASE$.	has_symptom
+1b3321234d727c9e56ad94fc6c8a4dda80f809f6	Weight reduction is valuable therapy for patients with obesity and pulmonary dysfunction, obesity and @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7aca53c68f9a3ce408655901240ebdcd78e990ca	Weight reduction is valuable therapy for patients with @DISEASE$ and pulmonary dysfunction, obesity and @PHENOTYPICFEATURE$, and obesity hypoventilation syndrome.	false
+d4ca562381ea9f2934b93f0fbc0d08b68ab82605	Weight reduction is valuable therapy for patients with obesity and pulmonary dysfunction, @DISEASE$ and @PHENOTYPICFEATURE$, and obesity hypoventilation syndrome.	false
+30db7cbbc07b4edac31c8aeafcab1e2e388878a9	As @PHENOTYPICFEATURE$ increases, the frequency of obstructive sleep apnea and @DISEASE$ increases also.	has_symptom
+c05d25a098fe8aa845b2067998c26efc508f2891	The incidence of @DISEASE$ (OHS) may be increasing in parallel with the present @PHENOTYPICFEATURE$ epidemic.	has_symptom
+0cafb3aa445938bd50a79036e656c37ee960e50d	@DISEASE$ (OHS) is a condition in which @PHENOTYPICFEATURE$ and chronic hypoventilation during waking hours are combined.	has_symptom
+cceb340e1fd003d3fb832babe5466f8486178f74	And @DISEASE$ (OHS) is defined as chronic daytime hypercapnia in combination with @PHENOTYPICFEATURE$ and OSA.	has_symptom
+d0afec6c03ea53ca8be79c3747f1095b7e0d6401	@DISEASE$ is a potential etiology of @PHENOTYPICFEATURE$ characterized by bulbous dilatation of the fundus of the internal auditory canal (IAC) and the absence of the bony plates separating the basal turn of the cochlea and IAC.	has_symptom
+28ac5d245c0338148523ae33ba30b4110bb8838c	The median values of C. pneumoniae antigens were 0.09, 0.30, 0.18, 1.33, and 3.3 in groups Normal, Atherosclerosis, Aortic stenosis-preserved, @DISEASE$-fibrosis, and @PHENOTYPICFEATURE$-calcification, respectively.	has_symptom
+3bf04427bae4418144d7c02d9ec8cd6547e759c9	A subsequent brain magnetic resonance imaging confirmed an absent septum pellucidum, and coupled with pituitary dysfunction and bilateral @PHENOTYPICFEATURE$, the diagnosis of @DISEASE$ was made.	has_symptom
+92748b64a94c49a509e2957de0e6e979b3185317	A subsequent brain magnetic resonance imaging confirmed an absent septum pellucidum, and coupled with @DISEASE$ dysfunction and @PHENOTYPICFEATURE$ optic nerve hypoplasia, the diagnosis of SOD was made.	false
+b1b1b1b4d1f8ede89cf9018152a203df8083330d	A subsequent brain magnetic resonance imaging confirmed an absent septum pellucidum, and coupled with pituitary dysfunction and @PHENOTYPICFEATURE$ @DISEASE$, the diagnosis of SOD was made.	false
+bbde4503cd70531a7d398f20792591de09e5686b	A subsequent brain magnetic resonance imaging confirmed an absent septum pellucidum, and coupled with pituitary dysfunction and @PHENOTYPICFEATURE$ optic nerve hypoplasia, the diagnosis of @DISEASE$ was made.	false
+eb9d13d89eca6c856eb3ce6dfd4d15206e7c4430	@DISEASE$, previously defined as Macrosomia, Obesity, Macrocephaly, and Ocular abnormalities (OMIM 157980) is a rare @PHENOTYPICFEATURE$ syndrome of unknown cause.	has_symptom
+ac2ac919264c8f726c0c22d7c8521ce9a86b08d1	All exstrophies in conjunction with an @PHENOTYPICFEATURE$ or with a @DISEASE$ syndrome (so-called 'transition forms') had a nearly universal pathological innervation pattern, compatible with cloacal exstrophies and had equally unfavourable functional findings.	has_symptom
+3b9957526d60dff2839400eb1dc6f5c7c08556dd	A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I @DISEASE$ who presented with neonatal @PHENOTYPICFEATURE$ fulminans.	has_symptom
+cc0a5fe46e006e096c60ec20c929efd61e0a6e69	[A case of @DISEASE$ associated with empty sella and @PHENOTYPICFEATURE$, a variant form of septo-optic-pituitary dysplasia].	has_symptom
+fe042faf229a04a9c00132fc43c1c343c7c4913a	14 cases of @DISEASE$ associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with @PHENOTYPICFEATURE$ and septum pellucidum without optical lesion (2 with cleft palate), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	has_symptom
+169f5b0f0466ba22b9810c57b04dd3ce512cf9a8	14 cases of @DISEASE$ associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with agenesis of corpus callosum and septum pellucidum without optical lesion (2 with @PHENOTYPICFEATURE$), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	false
+39f42178662179de1bb9f17092e6f50acc4c0cc8	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with @DISEASE$, 5 with agenesis of corpus callosum and septum pellucidum without optical lesion (2 with @PHENOTYPICFEATURE$), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	false
+61de3ad072956bfb1a390d2fb7233ab940c2ccb7	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with @DISEASE$ and septum pellucidum without optical lesion (2 with @PHENOTYPICFEATURE$), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	false
+58cf58f25608a85f0d19a1e5222653475b3270bd	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with agenesis of corpus callosum and septum pellucidum without optical lesion (2 with @PHENOTYPICFEATURE$), 1 with familial @DISEASE$ aplasia and 1 with mediofrontal cutaneous aplasia.	false
+9b0da1e32db76bb2433b032d01f76f3d880bdf89	@DISEASE$ (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, @PHENOTYPICFEATURE$, and intestinal malrotation with myofibromas or hamartomas.	has_symptom
+552c1155de0376928b211dcc7a93dddded8a72a3	The main features of the @DISEASE$ are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	has_symptom
+3d494e230b634e9b441cb98bef4c019e1d0460a4	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @DISEASE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+91a8825f54e924d95c4a1ce14f4a927cf70dcc69	The main features of the @DISEASE$ are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+07751f1d3eaf4b0ef42aa9c6e877a5a8d18f7461	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @DISEASE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+7896465c08fca2c38ce120a012683481b82deef3	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+c04589aab68d5c4817f42dfeafdc1222f5286c46	The main features of the @DISEASE$ are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+f859a9eed4ef168ea449373b1d9a801f965fd811	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @DISEASE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+98b0d49ca84d5312659322619f5731b510e1110c	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+21037d9600f224ca788b22c73418373ff05cb67d	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+a3fe51e3f6bf90c17b21c0f4d6bfccf0c7e1aa51	The main features of the @DISEASE$ are syndactyly, pre-axial polydactyly, craniosynostosis, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+70b56acbe87ca01486d7bcac38b356f5d501c28b	We describe the case of a 40-year-old-man with @DISEASE$ (MELAS) syndrome, with cardiomyopathy and severe @PHENOTYPICFEATURE$.	has_symptom
+1c827d780c69d6a63edc61bb8f702142029fbd69	We report that the pathognomonic symptom in @DISEASE$ caused by this newly observed mtDNA mutation may be rapid progression of cardiomyopathy and severe @PHENOTYPICFEATURE$.	has_symptom
+03329e34b4a39bef18cdfb096d5515e28c6c23ec	@DISEASE$ and cardiomyopathy: linking mitochondrial function to @PHENOTYPICFEATURE$ pathogenesis.	has_symptom
+1c7cc080c97972c22449d1ce58e1399038271c3c	@PHENOTYPICFEATURE$ is one of the main causes of death in patients with @DISEASE$ (FD).	has_symptom
+b713f53dd5e335abac4c3d49a5edc6c84114649b	Congenital absence of alpha-galactosidase in @DISEASE$ leads eventually to @PHENOTYPICFEATURE$.	has_symptom
+51c8f496cf8d0fdf5ced3468443f8d1057d5f77b	@DISEASE$ is associated with cardiomyopathy, early-onset stroke, and progressive @PHENOTYPICFEATURE$, and other features.	has_symptom
+f4fba47b5c586f5bc4fce04c80f8670dabd40c01	Kidney involvement in @DISEASE$ is frequent and severe since it leads to terminal @PHENOTYPICFEATURE$ in the fifth decode.	has_symptom
+864aaab7d47158ef6aa02307152ba534adaf6593	Enzyme replacement therapy in severe @DISEASE$ with @PHENOTYPICFEATURE$: a 1-year follow-up.	has_symptom
+a43d95b2e8918436873f94df0e20fb4fb3b1aceb	Previously, treatment of patients with @DISEASE$ was limited to palliative care of the excruciating pain, cardiac and cerebrovascular manifestations, and @PHENOTYPICFEATURE$.	has_symptom
+bd9688ce1f7c612f6e9630c72a6739f47715a018	@DISEASE$ (FD) is a lysosomal storage disease associated with cardiomyopathy, early-onset stroke, @PHENOTYPICFEATURE$, among other features.	has_symptom
+a240f9c2b9b04ccd5595e4300cc8adf7cc6df7eb	Progressive @PHENOTYPICFEATURE$ often complicates @DISEASE$, the pathogenesis of which is not well understood.	has_symptom
+c5e44d65c1d799b918ff66f4264c30bfed8bb218	A missense mutation of the ?-galactosidase A gene in a Chinese family of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+af2a6a44ff9731e8a1725ad697d2cd1d9b668c7f	@DISEASE$, which is characterized by alpha-galactosidase A (AG) deficiency, causes early @PHENOTYPICFEATURE$.	has_symptom
+1e4c42239a10862a0bca0770b1a54c718174514a	(Thrombocytopenia with absent radius @DISEASE$ is infrequently (7%) associated with @PHENOTYPICFEATURE$.	has_symptom
+850b77232b4571a0fc93541e50eb88b28e556d01	EJC components have been implicated in several developmental disorders including @DISEASE$, Richieri-Costa-Pereira syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+a49b3a046efdb65fe3d265ccf407956ed14eb289	The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely @PHENOTYPICFEATURE$-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), @DISEASE$ and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149).	has_symptom
+ae7ca8a34bb4bfd9cad49585123be0eb80a6dd95	Mutations in PTEN have been identified in different clinical disorders such as Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, @DISEASE$, Proteus-like syndrome, and autism spectrum disorders with @PHENOTYPICFEATURE$ (Hobert).	has_symptom
+8391c009a16dc684b2c0e5d1c2e7f0265c5f5d58	The diagnostic criteria of @DISEASE$ include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral @PHENOTYPICFEATURE$, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma.	has_symptom
+d855110450e5cf50826f61d0fae9871c2389b312	We describe an 18-month-old Greek boy with @PHENOTYPICFEATURE$, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the @DISEASE$.	has_symptom
+f317f747f5f640524e31b649af71e3f33786a389	Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the @DISEASE$ (partial gigantism of hands or feet, hemihypertrophy, @PHENOTYPICFEATURE$, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.	has_symptom
+fb0394c1fb58365d779d4a9ff90c769e574822a4	@DISEASE$ is a rare congenital disorder characterized by progressive course and great variability of clinical presentation with partial gigantism of extremities, hemihyperplasia with @PHENOTYPICFEATURE$, epidermal nevus, mesodermal hamartomas and the presence of peculiar cerebriform masses on the palms/soles.	has_symptom
+4527fff8f9344342ce87608515a262e42560eae4	Evidence indicates that Merrick suffered from the @DISEASE$ and had the following features compatible with this diagnosis: @PHENOTYPICFEATURE$; hyperostosis of the skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses.	has_symptom
+a94caa1dd8a46b2136a15c08b7f60af2f04e9484	Originally shown to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and endometrial cancers, and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by lipomatosis, @PHENOTYPICFEATURE$, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to include @DISEASE$ and Proteus-like syndromes.	has_symptom
+339b8ee49d423101e4c6b3174367d9db24395219	Our findings document that @DISEASE$ (CLN2), which is caused by TPP1 gene mutations, should be considered in the differential diagnosis of autosomal recessive dystonia-@PHENOTYPICFEATURE$ syndromes.	has_symptom
+c5e302675e92d83a6c08668498b01759c943d29d	The autosomal-dominant form of the hyperimmunoglobulin E syndrome (@DISEASE$) has been described as a multisystem disorder including immune, skeletal, and @PHENOTYPICFEATURE$.	has_symptom
+23a1c53f74d8c8d695f0f4608334f023584ec658	The autosomal-dominant form of the @DISEASE$ (AD-HIES) has been described as a multisystem disorder including immune, skeletal, and @PHENOTYPICFEATURE$.	has_symptom
+b4a3020895b9ba118512bfbdb71cbb1008dcf615	@DISEASE$ is a rare primary immunodeficiency disorder defined by high serum immunoglobulin E titers and associated with characteristic infectious, dermatologic, skeletal, and @PHENOTYPICFEATURE$.	has_symptom
+9c8516c13cd2401155bcf65cdbddfa4bdd2841a8	The autosomal-dominant (AD) form of the @DISEASE$ (HIES) has been described as a multisystem disorder including immune, skeletal and @PHENOTYPICFEATURE$.	has_symptom
+bec902cdf29c2b109f51156cc4818ba6461960b9	We describe an infant with @DISEASE$ and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; @PHENOTYPICFEATURE$; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth.	has_symptom
+53bc6dc5c9ed5c4ad12691aaee8827a94ada6098	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	has_symptom
+3a54b2384c03ea94fb40326981a8927af0ec7940	B?rjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+42d9eccf6990c71ca8b377fc20d9785fc3d69b10	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+efb8eb4c21e56bf0cda421dab17b4d75f5368773	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+ba37bfe2cdcb09b61a7d8169f3923cfc363757dd	B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+92d9fe3160549aeeda59a6ecdff35c42cfa09192	B?rjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to @DISEASE$, epilepsy, hypogonadism, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+146c3f39367f8112c32d30feb877df8f97c91494	B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+bf31d2e5bc6f70c5baf7234efbdc3bc3bbbdb286	We report a new type of @DISEASE$, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, spasticity, severe @PHENOTYPICFEATURE$ with absence of language, and deafness.	has_symptom
+4e8a490e7adf2be8057eb7da2726a1e1bde5a63a	We report a new type of @DISEASE$, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, @PHENOTYPICFEATURE$, severe mental impairment with absence of language, and deafness.	false
+a59e99885ef6a86a5580db74ecea75bf5b755af0	We report a new type of @DISEASE$, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, spasticity, severe mental impairment with absence of language, and @PHENOTYPICFEATURE$.	false
+92ef0b65f14f2e003a013e8c9787ed375a88320e	We report a new type of leukodystrophy, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, @PHENOTYPICFEATURE$, severe @DISEASE$ with absence of language, and deafness.	false
+d6766f4f5ecaf66317ff0abd0a8e7692e8d81c68	We report a new type of leukodystrophy, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, spasticity, severe @DISEASE$ with absence of language, and @PHENOTYPICFEATURE$.	false
+7b6208b280c57ee44908c0da3819f1925f4b8e3d	Autosomal dominant leukodystrophy should be included in the differential diagnosis of patients presenting with @PHENOTYPICFEATURE$, motor signs, and @DISEASE$-like images.	has_symptom
+5b1936a6c3c71e4c7211c1dca577b3ea156c476e	Autosomal dominant @DISEASE$ should be included in the differential diagnosis of patients presenting with @PHENOTYPICFEATURE$, motor signs, and leukodystrophy-like images.	has_symptom
+7ab58df18525f52931338e451134c283250bf1cc	Cerebral small vessel disease (CSVD) can lead to @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+5657479c9b7b32448da7a63bb8eda4ad831f91ae	A single-nucleotide polymorphism in the @DISEASE$ gene, and @PHENOTYPICFEATURE$ stage, grade, and clinical course in patients with nonmuscle-invasive neoplasms of the urinary bladder.	has_symptom
+7314689ad091c112e3b46ae227967cf913bf9256	Irofulven cytotoxicity depends on transcription-coupled nucleotide excision repair and is correlated with @DISEASE$ expression in solid @PHENOTYPICFEATURE$ cells.	has_symptom
+454e4ea4cc394f50aac514f837cb3b87a08780f8	LOH of the @DISEASE$ gene was analyzed in 40 primary prostate cancers and 14 metastases by using the microsatellite assay, and its mutations were examined in 5 cell lines, 14 metastases, and 8 @PHENOTYPICFEATURE$ with LOH at 13q33 by using the single-strand conformation polymorphism (SSCP)-direct DNA sequencing analysis.	has_symptom
+3c40cb4555cd22567d1ee37f13df82446b7c2dcc	These results suggest that the SNP in the @DISEASE$ gene might be related to @PHENOTYPICFEATURE$ invasiveness in NIBN.	has_symptom
+ef2d1100efc627f96da0850bb53cafd27e67f743	Four of the 29 (14%) informative primary @PHENOTYPICFEATURE$ and 4 of 8 (50%) metastases showed LOH for the @DISEASE$ gene.	has_symptom
+9822f08a4b49337b59e75565dacdcaa1842aaed4	Treatment for @DISEASE$ (XLH; vitamin D metabolites and phosphate salts) may result in hypercalcemia, @PHENOTYPICFEATURE$, nephrocalcinosis, and hyperparathyroidism.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+87ac0d491e911572d7625bde5be6b27baae75241	Patients with @DISEASE$ present with skin fragility, erosions, vesicles, bullae, and milia in sun-exposed areas of the skin, sometimes periorbital mottled hyperpigmentation and @PHENOTYPICFEATURE$, sclerodermoid changes and ulceration.	has_symptom
+34c10183dc0b6bf3f7e6b97b201696676ec3110c	@DISEASE$ is a photocutaneous syndrome characterized clinically by cutaneous fragility, bullae, @PHENOTYPICFEATURE$, pigmentary changes, and sclerodermoid plaques and characterized biochemically by hepatic overproduction and storage of excessive amounts of porphyrins.	has_symptom
+7d59d202eb6537429ef89b53abd61bf6c189c561	@DISEASE$ (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, @PHENOTYPICFEATURE$, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin.	has_symptom
+55a7ae3dc5058881948b1046e72d40f8d7fa05a9	Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple @DISEASE$, especially diaphragmatic hernia, and classic phenotypes including @PHENOTYPICFEATURE$, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin.	false
+22f9072a025ccdf252bc5e6153d646973afbf4b6	Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including @PHENOTYPICFEATURE$, severe developmental delay, macrosomia at birth, @DISEASE$, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin.	false
+6a0809f20e17851deaf60fb20bd550d40853dfc0	Pallister Killian syndrome (PKS, OMIM 601803) is a rare @DISEASE$ with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including @PHENOTYPICFEATURE$, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin.	false
+da02d8206e2e5dd5ad1bfbbabb66acb8b3ac000e	@DISEASE$ (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including @PHENOTYPICFEATURE$, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin.	false
+f179687b9edc7c5d0f9631f6843115d3f44d36a6	Ninety-one percent of patients with @PHENOTYPICFEATURE$ and all patients with @DISEASE$-frequency hearing loss and up-sloping hearing loss recovered with treatment (P < 0.05).	has_symptom
+394b474c1df3c0a210c3620e98e737e976eded49	UMN-D ALS and @DISEASE$ outpatients experiencing gait disturbances, secondary to moderate-to-severe @PHENOTYPICFEATURE$ despite optimized oral medication, were offered BoTox-A treatment.	has_symptom
+dd8281fa8b50f5f8d39b75150e36ed539c203fa8	@DISEASE$ (PLS) bears close resemblance to cases of amyotrophic lateral sclerosis (ALS) presenting with @PHENOTYPICFEATURE$, but histopathological studies have shown significant difference between the two conditions.	has_symptom
+4044fe5e94f484e21bc73752b3df4d740d375a05	Primary lateral sclerosis (@DISEASE$) bears close resemblance to cases of amyotrophic lateral sclerosis (ALS) presenting with @PHENOTYPICFEATURE$, but histopathological studies have shown significant difference between the two conditions.	has_symptom
+697aaf2872e34ce44bb37e74e132fc80713003d3	Primary lateral sclerosis (@DISEASE$) is a diagnosis of exclusion in patients with progressive spinobulbar @PHENOTYPICFEATURE$ and could be part of the clinical spectrum of ALS.	has_symptom
+a7a449f59f500e29c3877a0b9eb49ec080e9e190	@DISEASE$ (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar @PHENOTYPICFEATURE$ and could be part of the clinical spectrum of ALS.	has_symptom
+b752aa808b41e0cbe6e49a4a4d9c24e9ae917736	In conclusion, these cases represent a subgroup of @DISEASE$ patients in whom pyramidal slowness may be mistaken for akinesia, and @PHENOTYPICFEATURE$ misconstrued as rigidity, leading to an erroneous diagnosis of atypical parkinsonism.	has_symptom
+b41e5c56776f4a8c08c9b63d69876ed05ccf92ec	Intrathecal baclofen for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b41e5c56776f4a8c08c9b63d69876ed05ccf92ec	Intrathecal baclofen for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+5872bb239a0e5a0944a3f4d5d379439c54895458	The present study aims to demonstrate that errors when writing are more common than expected in patients affected by primary lateral sclerosis (@DISEASE$) with severe dysarthria or complete mutism, independent of @PHENOTYPICFEATURE$.	has_symptom
+f43bd17a6820550718612098168b965aa4b6627c	The present study aims to demonstrate that errors when writing are more common than expected in patients affected by @DISEASE$ (PLS) with severe dysarthria or complete mutism, independent of @PHENOTYPICFEATURE$.	has_symptom
+1f326ab871a37f1341ec83df427de2a4b91489a0	@DISEASE$ (PLS) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by @PHENOTYPICFEATURE$, muscle weakness, and bulbar involvement.	has_symptom
+9fa8c73e881cbbefa3207f2bd50e144eef263ffd	Primary lateral sclerosis (@DISEASE$) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by @PHENOTYPICFEATURE$, muscle weakness, and bulbar involvement.	has_symptom
+347212634197cdb1cc7c40a088c701f31f17ad2f	Primary lateral sclerosis (@DISEASE$) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by spasticity, @PHENOTYPICFEATURE$, and bulbar involvement.	false
+6a69d19bd677ecd8922b6c89f553e64a665c373f	Primary lateral sclerosis (PLS) is a rare idiopathic neurodegenerative disorder affecting @DISEASE$ motor neurons and characterized by spasticity, @PHENOTYPICFEATURE$, and bulbar involvement.	false
+87b04b453f2e927adaf6cd95d81a5245ce739b94	Primary lateral sclerosis (PLS) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by @DISEASE$, @PHENOTYPICFEATURE$, and bulbar involvement.	false
+b5fa611f9b27a3d01a9cc7374b40155a245dfd1e	@DISEASE$ (PLS) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by spasticity, @PHENOTYPICFEATURE$, and bulbar involvement.	false
+cacfaccaa249664a2bc59a2d26d4f679696b9bf9	@DISEASE$ (PLS), the upper motor neurone variant of motor neurone disease, is characterized by progressive spinal or bulbar @PHENOTYPICFEATURE$ with minimal motor weakness.	has_symptom
+175eae19768dcab641f89783175f9a3896fdcc48	Primary lateral sclerosis (@DISEASE$), the upper motor neurone variant of motor neurone disease, is characterized by progressive spinal or bulbar @PHENOTYPICFEATURE$ with minimal motor weakness.	has_symptom
+fac03fca6d30d03ae42dde56ed70ba74600a8c4c	@DISEASE$ (PLS) is considered a rare variant of motor neuron disease (MND) characterized by selective upper motor neuron dysfunction leading to limb weakness, @PHENOTYPICFEATURE$, and even bulbar symptoms.	has_symptom
+50a477def920b54931fb5b00e1b695e46a84a895	Primary lateral sclerosis (@DISEASE$) is considered a rare variant of motor neuron disease (MND) characterized by selective upper motor neuron dysfunction leading to limb weakness, @PHENOTYPICFEATURE$, and even bulbar symptoms.	has_symptom
+f37527e404daed42937331d5614ee7915757fc98	This woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent @PHENOTYPICFEATURE$, a phenotype with significant similarities to Antley-Bixler and @DISEASE$.	has_symptom
+64ba3f72d92e9a0fd61f7ba7222d6669517cb517	Two women with @DISEASE$ who had acute lower abdominal pain, @PHENOTYPICFEATURE$, and were found to have acute adnexal torsion.	has_symptom
+b93ba5f9eac4de35e91219359aa32cfeb6f640f7	Two women with OHSS who had acute lower @PHENOTYPICFEATURE$, @DISEASE$, and were found to have acute adnexal torsion.	false
+92e243c52c42414eba3c042d8132b1f76edcad38	Two women with @DISEASE$ who had acute lower @PHENOTYPICFEATURE$, nausea, and vomiting, and were found to have acute adnexal torsion.	false
+0dcf5f6c2c3f4baebd3e755a502f01ecf357f74b	In children presenting with persistant metabolic alkalosis, with family history of @PHENOTYPICFEATURE$, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking @DISEASE$.	has_symptom
+325fc3379926b7b1fd421b19aaec05c676394cb2	Aminoglycoside (AMG)-induced renal toxicity is well-known and may manifest with non-oliguric @PHENOTYPICFEATURE$ or renal tubular dysfunction like Fanconi-like syndrome, @DISEASE$-like syndrome or distal renal tubular acidosis (RTA).	has_symptom
+a7701c9560de4a22d0a49b82d9218e102612786c	A case of severe hypercalcemia secondary to carcinoma of the lung is described in which @DISEASE$, @PHENOTYPICFEATURE$ and pancreatitis were also present.	has_symptom
+63b55b2fe17b75604763b904d0aaf3f6b5c5c83c	The gene encoding the integral membrane protein barttin is mutated in a form of @DISEASE$ that is associated with congenital deafness and @PHENOTYPICFEATURE$.	has_symptom
+aa995d87a442006005c0d8481cf9523eea9938b8	The gene encoding the integral membrane protein barttin is mutated in a form of Bartter's syndrome that is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a3488fc80128965583e450d9e40415d73d5c8a32	The gene encoding the integral membrane protein barttin is mutated in a form of @DISEASE$ that is associated with @PHENOTYPICFEATURE$ and renal failure.	false
+3ada70c234d05fca9dd5a6b9ca701082d4805bb3	Progressive @PHENOTYPICFEATURE$ in patients with classic @DISEASE$ (cBS) due to inactivating mutations in CLCNKB gene is extraordinarily rare.	has_symptom
+e42588a2d8560216d20575e1949e99de3de91cb6	Clinical findings in a female patient aged 49 years suggested Conn's syndrome (@DISEASE$, hypertension) developing in the course of @PHENOTYPICFEATURE$.	has_symptom
+3ef6e96bd230ad351a8a4e9678a00e33a923a2f2	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in @DISEASE$ and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or @PHENOTYPICFEATURE$, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	has_symptom
+9c9f971ad19521efae8b103fc11e759742d3f198	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in @DISEASE$ and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+f4b24d0c51a3b2b1070b6702365a36c984000ba4	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or @DISEASE$, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+812e143922b4ba7de967806a745b28155cb21278	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with @DISEASE$ with low blood pressure; cough; angioedema; and hyperkalemia.	false
+422118450a1cae57a3ad34ee765b22e4c04bbebf	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or @DISEASE$, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+367766d2739b94cf86ad66c300e74c085d2b1ab3	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; @DISEASE$; and hyperkalemia.	false
+6b1d306a76ab998042c6e90848ba101c426a68cf	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of @DISEASE$ renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+d0df421fedeb6fd8957d5cc0c923f6f3bac3c8a0	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of @DISEASE$, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+60bedb9c0e82791b1b7c426d0d47a90304b6ef66	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of @DISEASE$ renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+1904232ca069414f495cc446dc77ce4f2484aaa3	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in @DISEASE$ and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+401e34252efd30eefef5360b4c7e54bdbaf2829f	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with @DISEASE$ with low blood pressure; cough; angioedema; and hyperkalemia.	false
+7fac28067cd3bf5df55fce72ffba98118fbf768d	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; @DISEASE$; and hyperkalemia.	false
+ff07cfd7866d8bf746284fc52aa357d522f526b4	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of @DISEASE$, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+ebf388dc22dac26c5c63caf6d48bed91ebb994b8	It is speculated that Dent patients with features of @DISEASE$ are susceptible to progression to @PHENOTYPICFEATURE$.	has_symptom
+a626e8e3329695d3c142a9ed77d0af5217986038	@DISEASE$ is characterised by dysmorphic features, severe hypotonia, seizures, @PHENOTYPICFEATURE$, liver dysfunction and skeletal defects.	has_symptom
+500d3f772edc4e1eb5523f1c38a0c1c23b3f17e5	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype @DISEASE$) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	has_symptom
+25de73a15dbb9406f74ad37f5afb60c6298fd188	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the @DISEASE$, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+a4be68c248ecaa2233b8856bc226fa7af38557fa	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and @DISEASE$ structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+70d4514040743f9677bca9917f8f287cf23a11ad	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @DISEASE$, and, in some cases, stillbirth or infancy/childhood death.	false
+925e126a1dcbf6e098918d1a6792d582fb5b01f0	In this manner, the @DISEASE$ has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+33415e931a7a2b4d8130b795720f6080edd8d92d	In this manner, the RSH syndrome has been identified as another metabolic multiple @DISEASE$/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+05a92e768a791e2f1c75d283e432af6977f799e8	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (@DISEASE$) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+e9692a33cc0bbf683ebe3c8262559595d21d1c29	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype @DISEASE$) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+b563819a3fb79b1fce09efa87ff52a5156198ba8	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) @DISEASE$ (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+5b3d18e409c22f2e910fbaa1f10f73f7f71619d5	The authors describe the case of a 51-year-old male with Zollinger-Ellison syndrome manifested by epigastralgia, nausea, @PHENOTYPICFEATURE$, hypergastrinemia and @DISEASE$. History included a Billroth II procedure for a perforated duodenal ulcer.	has_symptom
+795b9a2674cd78349bf57e29697d01dbc0f4ba78	Cerebral abnormalities are considered an obligatory manifestation of the @DISEASE$ and include lissencephaly, severe @PHENOTYPICFEATURE$, aplasia of the corpus callosum, hypoplasia of the cerebellum, and other pathological changes.	has_symptom
+aa819219520d076e83d0daae69189e1a8ca13e63	@DISEASE$ (NLS) is a lethal autosomal recessive @PHENOTYPICFEATURE$ syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital anomalies.	has_symptom
+5953e9803ea81e41f9afe31417100b7747082dc4	@DISEASE$ (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, abnormal brain development, oedema and ichthyosis.	has_symptom
+0ab9d4f14338ebaba9c6120c939cc2f4c55c1649	@DISEASE$ is a rare group of congenital malformations including intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, central nervous system alterations, facial abnormalities, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	has_symptom
+1d1b7498773e5d643d58c8cbe011509d0eb46f6c	Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), @DISEASE$, central nervous system alterations, facial abnormalities, ichthyosis, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+9ce73181cf4ed6e31750a6e60eaff82734690d1f	Neu-Laxova syndrome is a rare group of @DISEASE$ including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+01f1a43cbb46315cf78887e19d9c5b4a78f7ee91	Neu-Laxova syndrome is a rare group of congenital malformations including @DISEASE$ (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+74ce2eb6b70bb9235e1359a6eebc509ee91bd6df	@DISEASE$ is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, @PHENOTYPICFEATURE$, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+e4dbaf1574712a5a84e3997b5bf6b2f1190fa7dc	Neu-Laxova syndrome is a rare group of @DISEASE$ including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, @PHENOTYPICFEATURE$, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+66b7b39307108cf8efc304f3ec69f80ba2065cb7	Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, @PHENOTYPICFEATURE$, @DISEASE$, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+17a20cc45dd05823538a341e9def5269eebd6338	Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), @DISEASE$, central nervous system alterations, @PHENOTYPICFEATURE$, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+57db8244e935c0eff9c21be12290e9229b7edf32	Neu-Laxova syndrome is a rare group of congenital malformations including @DISEASE$ (IUGR), microcephaly, central nervous system alterations, @PHENOTYPICFEATURE$, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+3781310b9baa68f67d383f4f0180737dcc6fab86	@DISEASE$ is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+a0e8aa7c0889e10fd5b62905b1c79c7bafd2d80e	Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+aa44bb2d0a2b81c9a726ca70238b7594a5698500	@DISEASE$ is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, limb contactures, lissencephaly and ichthyosis.	has_symptom
+1524a17790cfda5defb4618bfa5098d9b25675ae	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+1a059dc6b367b4db9018e75ed6386b7fb97803e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+034908653f65db9ed5d1e2b672461b08810f2465	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2ba6191635b880d1d18f61a2bf820b032f7a36ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7bfdee852380011d4e563bd7c953f993e7570135	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8ae9ce05e8a4ffb24edcfe6cdfb35a38192ef59c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+9a6a95b167f8d4a7de6296b388ec02de89dd06f4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8e586b2190e86e4b33b6fcb0bf321224ded68a57	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+06429b835a1c3c3a72fe3461b311608226d61c48	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+bdcfaffe0b28dd502200697d77a355b0c7ec1bd8	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+04426c9206b60f669c52d93bc07aacc55c9319a6	Extreme @PHENOTYPICFEATURE$, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	has_symptom
+239214c273ea2db88a804f142a1bb001a15ff3ec	Extreme microcephaly, severe growth and mental retardation, @PHENOTYPICFEATURE$, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	false
+85fa71f79dbc99b28eb0ab86ac7de60e6f352fe5	Extreme @DISEASE$, severe growth and @PHENOTYPICFEATURE$, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?	false
+0a10b2e1fd6051e7d0f82d7d828cc9186cb759a2	Extreme @DISEASE$, severe growth and mental retardation, @PHENOTYPICFEATURE$, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?	false
+b9581c0fa10cb785aee2c20039b2d116794f7c71	Extreme microcephaly, severe growth and @PHENOTYPICFEATURE$, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	false
+5f4947234bd621509222a9919e2631dda16eebae	We present a case of @DISEASE$ in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, @PHENOTYPICFEATURE$, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia.	has_symptom
+d0afc22df504903b97b3db2eb078c70f9abbdf5d	We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA) newborn with characteristic features including @DISEASE$, microcephaly, severe ectropion, rudimentary ears, eclabion, @PHENOTYPICFEATURE$, and hypoplastic genitalia.	false
+39430b253d4c4c22850c5868d57e25a44a14f792	We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, @DISEASE$, severe ectropion, rudimentary ears, eclabion, @PHENOTYPICFEATURE$, and hypoplastic genitalia.	false
+0b55e741f973938dabed8d783fb1444f4094c652	We present a case of @DISEASE$ in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, @PHENOTYPICFEATURE$, and hypoplastic genitalia.	false
+bd48b9323ef4056316dd6258295a96e2f4ec7983	@DISEASE$ (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, @PHENOTYPICFEATURE$, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality.	has_symptom
+01725081c96817ebec376adcaa42a2b33fa41d2e	Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, @DISEASE$, a distinct facial appearance, ichthyosis, @PHENOTYPICFEATURE$, and perinatal lethality.	false
+bb6b4c28ef897a396326755f8b3cd3aea57d5c6b	@DISEASE$ (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, @PHENOTYPICFEATURE$, and perinatal lethality.	false
+6228a05c936433530202c94017d4443fdbbad8aa	Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, @DISEASE$, @PHENOTYPICFEATURE$, and perinatal lethality.	false
+14445a14fa212f2874c09759231412cc49822f6d	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	has_symptom
+6c4a84e9fe9ba64a32755445ea45913f41a2ddaf	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and micrognathia).	false
+e69cd5218dc84732c7d9ea93b32818899e4b8c34	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including @DISEASE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+1772c2445708889f58e1e6cdcfd42504e6e65dfb	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @DISEASE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @PHENOTYPICFEATURE$).	false
+c0ba9448594b68b2ad9dff8b432f0d8fa88b173e	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+e357516b6d8115d10a20631995d720ffcf57c516	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @DISEASE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and micrognathia).	false
+47dbe2946f1253de13c3d7142620dd46cebac10d	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @PHENOTYPICFEATURE$).	false
+d514f5aa1e36564782a1ffad7b7c32751f3c9600	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @PHENOTYPICFEATURE$).	false
+cfc3b1a4fda398ca38390652c326d860700f6f96	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and micrognathia).	false
+519fbf661b17bb8a281e57e46fd5f2468eff0d9a	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+e198862ae304c4e8e674266cace3be494fe5a036	This review involves various methods in prenatal predicting fetal Hb Bart's disease or @DISEASE$ and attempts to provide valuable insights regarding the underlying mechanisms responsible for @PHENOTYPICFEATURE$ in Hb Bart's fetuses.	has_symptom
+022ddcb9866c5ce66d36466c465e2fad87bb07e9	The syndrome of familial @PHENOTYPICFEATURE$, sensorineural deafness, and renal dysplasia (@DISEASE$) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p.	has_symptom
+250f5e4068b742e0e41a4d7a7886f8659b1b83e8	The syndrome of familial hypoparathyroidism, @PHENOTYPICFEATURE$, and renal dysplasia (@DISEASE$) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p.	false
+d4f308ecf9e45a5c0058f4216da5d8976d42e386	The syndrome of familial @DISEASE$, @PHENOTYPICFEATURE$, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p.	false
+7c4327428a359fe169328bc0a254c34871a9b751	The syndrome of familial hypoparathyroidism, @PHENOTYPICFEATURE$, and @DISEASE$ (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p.	false
+096deea52480c7e0fe5f563048c5121314146eeb	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, deafness and renal defects.	has_symptom
+dc57919b8158d48aead4bfec3233f61dbfe96bce	@DISEASE$ is characterised by hypoparathyroidism, @PHENOTYPICFEATURE$ and renal defects.	false
+8bcf8c3ec99034fc695a0a8c4bbcc33a762c5389	HDR syndrome is characterised by @DISEASE$, @PHENOTYPICFEATURE$ and renal defects.	false
+d1150a02ba28becb9f4b2328ce0fe29b6e416673	Concomitant @PHENOTYPICFEATURE$, sensorineural deafness, and renal agenesis: a case of @DISEASE$.	has_symptom
+949d17f575723f5a7d2b3b4aebf6f6ca084e0904	Concomitant @DISEASE$, @PHENOTYPICFEATURE$, and renal agenesis: a case of Barakat syndrome.	false
+4e649ecded2bc7fe18dbc2d5fa53f10d504e3304	Concomitant hypoparathyroidism, @PHENOTYPICFEATURE$, and renal agenesis: a case of @DISEASE$.	false
+01ded4ee1bfb7dc3e99e4cdce2d7741cd0a6c6a6	No mutations were identified in patients with isolated hypoparathyroidism, thereby indicating that GATA3 abnormalities are more likely to result in two or more of the phenotypic features of the @DISEASE$ and not in one, such as isolated @PHENOTYPICFEATURE$.	has_symptom
+f2a5b41ba292e6b7c3ece276eb936d15d189928b	No mutations were identified in patients with isolated @PHENOTYPICFEATURE$, thereby indicating that GATA3 abnormalities are more likely to result in two or more of the phenotypic features of the @DISEASE$ and not in one, such as isolated hypoparathyroidism.	has_symptom
+12e9110baadd77a84d4647f858aac06795e7494e	Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for @PHENOTYPICFEATURE$, sensorineural deafness, and renal anomalies (@DISEASE$).	has_symptom
+5ba55ba1e9b1e82a0e522a067a3fc0cd324c2be3	Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for @DISEASE$, sensorineural deafness, and @PHENOTYPICFEATURE$ (HDR syndrome).	false
+c43d2e35dca66de2fa180345cfa1810c939b0a57	Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparathyroidism, @PHENOTYPICFEATURE$, and renal anomalies (@DISEASE$).	false
+c41ade4419f8b054d3282d0b54a1107043ddd2d8	Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparathyroidism, sensorineural deafness, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+7525a0e32812a81cedbcac9032479a04acc7c195	Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for @DISEASE$, @PHENOTYPICFEATURE$, and renal anomalies (HDR syndrome).	false
+86a228b4d1a39ba977cabe4d863049967032a1fa	The conventional statistical analysis confirmed that age, anemia, uremia, hypoalbuminemia, @PHENOTYPICFEATURE$, hyperuricemia and IgA lambda type @DISEASE$ were associated with a poor prognosis.	has_symptom
+0807f9b8d7f15f679bbbeebbc889eb8b27979a70	The conventional statistical analysis confirmed that age, @DISEASE$, uremia, hypoalbuminemia, hyperglobulinemia, @PHENOTYPICFEATURE$ and IgA lambda type myeloma were associated with a poor prognosis.	false
+4d7a8c49c0c623dfb34189ad091e00fcdf6353dd	The conventional statistical analysis confirmed that age, anemia, uremia, @PHENOTYPICFEATURE$, @DISEASE$, hyperuricemia and IgA lambda type myeloma were associated with a poor prognosis.	false
+543bec33056379f9243ce5841329cba180ccba0b	The conventional statistical analysis confirmed that age, @DISEASE$, uremia, @PHENOTYPICFEATURE$, hyperglobulinemia, hyperuricemia and IgA lambda type myeloma were associated with a poor prognosis.	false
+f31d1ce54dc4d235cdf424131f07198d6c627173	The conventional statistical analysis confirmed that age, anemia, uremia, hypoalbuminemia, hyperglobulinemia, @PHENOTYPICFEATURE$ and IgA lambda type @DISEASE$ were associated with a poor prognosis.	false
+e240dc8ab4d5246e5e4f59ae8ddc936a357c26b5	The conventional statistical analysis confirmed that age, anemia, uremia, @PHENOTYPICFEATURE$, hyperglobulinemia, hyperuricemia and IgA lambda type @DISEASE$ were associated with a poor prognosis.	false
+6a5506d81ee15159566a6d859641a41eaffc2e8b	The conventional statistical analysis confirmed that age, anemia, uremia, hypoalbuminemia, @DISEASE$, @PHENOTYPICFEATURE$ and IgA lambda type myeloma were associated with a poor prognosis.	false
+f52ba130fdfe50938d10714725d16ca47bc1ee9e	In a few cases, we found quite stable @DISEASE$-like @PHENOTYPICFEATURE$, which usually occurs much later in the infection.	has_symptom
+1cf4f21d0c66417686c7c5c092bada88c6763e56	A 46-year old woman and a 59-year-old man had corneal crystals, @DISEASE$, and IgG kappa @PHENOTYPICFEATURE$.	has_symptom
+091d022cfec54b4446077ebea276693a9a0810a3	Arteriohepatic dysplasia (@DISEASE$, Alagille's syndrome) is presumed to be one of the six known familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or @PHENOTYPICFEATURE$, or both.	has_symptom
+e60c0141c9ada2ef4b14047bf24ccb0985e3a649	@PHENOTYPICFEATURE$ suggests kidney involvement in @DISEASE$.	has_symptom
+a425bb8572ddc95ce92c6a6ca4d0892fb8e9e378	Progressive disease occurred mainly in patients having cystinosis, primary hyperoxaluria, the syndrome of hypomagnesaemia/@PHENOTYPICFEATURE$, primary Fanconi syndrome, @DISEASE$, and methylmalonic aciduria.	has_symptom
+41950fae223800db5802ea29fccd845ac0959c0a	Mutations in Amyloid ? Precursor Protein (APP) and in genes that regulate APP processing--such as PSEN1/2 and ITM2b/BRI2--cause familial @PHENOTYPICFEATURE$, such Familial Alzheimer disease (FAD), Familial Danish (@DISEASE$) and British (FBD) dementias.	has_symptom
+dce04a97c2dee474ee84dc940f31b97305fa6700	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, @PHENOTYPICFEATURE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	has_symptom
+48eac06c4be5ccbfc982fec0494deb4244ba231c	In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, @PHENOTYPICFEATURE$, @DISEASE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+f837faea97983216bfa6b1724841a1c0b2b15534	In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had @PHENOTYPICFEATURE$, wide cranial sutures, prominent eyes, @DISEASE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+d7584d450558637f25b755920c081ee037eb174c	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, @PHENOTYPICFEATURE$, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+ecdb5949ddec5916a1c7c296bc31115bb7558bea	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had @PHENOTYPICFEATURE$, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+c8e4c91bcb8871dad807fa194b2165b9769bdce1	The review shows that the most frequent presenting symptoms of @DISEASE$ are hypoketotic hypoglycemia, hyperammonemia, hepatomegaly, cardiomyopathy and/or @PHENOTYPICFEATURE$, and respiratory distress.	has_symptom
+99aa9b26319407e6efb08201febab8c856b58f68	The @DISEASE$ (FOAR) is a rare autosomal recessive syndrome characterized by the presence of dysmorphic facial features, ocular anomalies, @PHENOTYPICFEATURE$, and proteinuria.	has_symptom
+e8f349357a3312cb524ab77801278bb495f0126e	Mutations in LRP2 have been shown to cause the @DISEASE$ (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, @PHENOTYPICFEATURE$, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.	has_symptom
+ac8abf48ac52075423b3f063a0356ed920518e11	Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) @DISEASE$, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and @PHENOTYPICFEATURE$, although there is variability in the expression of some features.	false
+e7f0987a41686f4ad637c807cf18bf1e90d9f345	Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with @PHENOTYPICFEATURE$, ocular anomalies, @DISEASE$, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.	false
+bb14bc5860e1fa6810c07e6ec099d2e951f2a46d	Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, @DISEASE$, low molecular weight proteinuria, and diaphragmatic hernia and @PHENOTYPICFEATURE$, although there is variability in the expression of some features.	false
+3ed364e28b59c2cb36c4ee0b285c7d457fad5797	Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with @PHENOTYPICFEATURE$, ocular anomalies, sensorineural hearing loss, low molecular weight @DISEASE$, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.	false
+8987694b8fdb6f7ebbfd17d1e17d33728a74325d	Mutations in LRP2 have been shown to cause the @DISEASE$ (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with @PHENOTYPICFEATURE$, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.	false
+6024d77d8ede52ad0ed18a784481de6045dee898	Mutations in LRP2 have been shown to cause the @DISEASE$ (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and @PHENOTYPICFEATURE$, although there is variability in the expression of some features.	false
+68656adbcb80cc9d8931a36e58103e9d7f2b0aea	Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) @DISEASE$, a syndrome associated with @PHENOTYPICFEATURE$, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.	false
+2c9a1b255e370500aa35e2cc754ea3eef4b896f6	Mutations in LRP2 have been shown to cause the Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight @DISEASE$, and diaphragmatic hernia and @PHENOTYPICFEATURE$, although there is variability in the expression of some features.	false
+2182dda6b15107b82c5eee15ceaf7bf74ea0c257	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and @PHENOTYPICFEATURE$ (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	has_symptom
+89dc8ee10d4bcdace8ab53429aeb6e9f9756b4cc	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, @PHENOTYPICFEATURE$, myopia, and sensorineural deafness (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+adb92a8f400040ea4f5380197ad95b4182697c15	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+f4ef966d047badf5331c47b4a771988c21183683	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, @PHENOTYPICFEATURE$, myopia, and @DISEASE$ (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+13221e9e1065c9f405f86222e67e183f55cc4642	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, myopia, and @DISEASE$ (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+407496c343a0124f5808adae63dd9385890be6d4	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, @PHENOTYPICFEATURE$, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of @DISEASE$, but without diaphragmatic hernia.	false
+7c4c7aa24a93a0c439a90a90ae5414c476a1fd62	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, @DISEASE$, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+94b24e6e6fff414af711cd7c1a8f5cf516b158f2	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of @DISEASE$, but without diaphragmatic hernia.	false
+b374e78859f8e6efb789a145d20bdc3b504450bf	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+b060da8aa6e12315058029c66f67dcfdb1856fce	@DISEASE$ is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, @PHENOTYPICFEATURE$ and developmental delay.	has_symptom
+569dce8dab35d46f3aa00e483a90a23076201dfe	@DISEASE$ is associated with @PHENOTYPICFEATURE$, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay.	false
+2f9970678cba6b497a40302babe2ea4783e0c9f6	Donnai-Barrow syndrome is associated with @PHENOTYPICFEATURE$, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, @DISEASE$ and developmental delay.	false
+21e91e7a15c3df57401cf129ece8bf4b33d0cac1	Affection status was associated with abnormalities characteristic of @DISEASE$, i.e. aplastic anemia, @PHENOTYPICFEATURE$, short stature, an unusual face and pigmentation abnormalities of skin.	has_symptom
+0ff0684dda851848e2abdde71c51e9b307b59dfc	Affection status was associated with abnormalities characteristic of Fanconi's anemia, i.e. aplastic anemia, microcephaly, @PHENOTYPICFEATURE$, an unusual face and @DISEASE$ abnormalities of skin.	false
+2b0c410a651d81513c838f86e85a3d13e17c9f2f	Affection status was associated with abnormalities characteristic of @DISEASE$, i.e. aplastic anemia, microcephaly, @PHENOTYPICFEATURE$, an unusual face and pigmentation abnormalities of skin.	false
+6f72d78f6c29d485e7ccd7e4049ad7297d10243b	Affection status was associated with abnormalities characteristic of Fanconi's anemia, i.e. aplastic anemia, @DISEASE$, @PHENOTYPICFEATURE$, an unusual face and pigmentation abnormalities of skin.	false
+873264de9571d03a629ec99a2b25916f4587fbef	Affection status was associated with abnormalities characteristic of Fanconi's anemia, i.e. @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, an unusual face and pigmentation abnormalities of skin.	false
+8c82aba0ec8213cfbc83db4981679227c5fa0c22	In conclusion, we preferred caudal anesthesia in this patient with @DISEASE$ without thrombocytopenia, because of avoiding from N2O, reducing amount of anesthetic, existing @PHENOTYPICFEATURE$, hypothyroidism and elevated liver enzymes, providing postoperative analgesia, and reducing amount of analgesic used postoperatively.	has_symptom
+9efaaeacd80db3f4fed5181573a8c958ef697dd7	A 6 1/2-month-old girl is described, in whom the diagnosis of @DISEASE$ in the pre-anemic stage was made on the basis of the following findings: growth failure, @PHENOTYPICFEATURE$, modest epicanthal folds, pigment spots, and chromosomal breaks.	has_symptom
+c09cd9e568bea1279da766def779bc6ea5cea71c	A 6 1/2-month-old girl is described, in whom the diagnosis of @DISEASE$ in the pre-anemic stage was made on the basis of the following findings: growth failure, microcephaly, modest @PHENOTYPICFEATURE$, pigment spots, and chromosomal breaks.	false
+3e8f5e80e9c8588ec0bcfbc639174c764aef8a19	A 6 1/2-month-old girl is described, in whom the diagnosis of Fanconi's anemia in the pre-anemic stage was made on the basis of the following findings: growth failure, @DISEASE$, modest @PHENOTYPICFEATURE$, pigment spots, and chromosomal breaks.	false
+71b6f69882a110f24bfb355eb20d8c711b1e0fe1	@DISEASE$ (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including microphthalmia, @PHENOTYPICFEATURE$, hypoplastic radius and thumb.	has_symptom
+a8959b347be407806955197051861f35a1506c98	Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including @PHENOTYPICFEATURE$, @DISEASE$, hypoplastic radius and thumb.	false
+f043bfe9c6356d0c3d5f083d48b87246836370d8	Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and @DISEASE$, and developmental anomalies including @PHENOTYPICFEATURE$, microcephaly, hypoplastic radius and thumb.	false
+da649f7b679d9b0e3157c67cb1aa3ccfc3773d5a	Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high @DISEASE$ risks, and infertility, and developmental anomalies including @PHENOTYPICFEATURE$, microcephaly, hypoplastic radius and thumb.	false
+7b0fd4f9a2cb28673489dce5ceb04a109adc49c8	@DISEASE$ (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including @PHENOTYPICFEATURE$, microcephaly, hypoplastic radius and thumb.	false
+3b896bd145b9a7880577f557659117dad384a4ac	@DISEASE$ is an autosomal recessive disease associated with chromosomal breakage as well as pancytopenia, skin pigmentation, renal hypoplasia, cardiac defects, @PHENOTYPICFEATURE$, congenital malformations of the skeleton, hypogonadism, and increased risk of leukemia.	has_symptom
+00f96eeb6da95249739c64c02cd467605ea5d659	We describe a 56-year-old woman suspected of @DISEASE$ on the basis of the following clinical findings: @PHENOTYPICFEATURE$, short stature, congenital deafness, and the clinical findings in her deceased brother.	has_symptom
+6aa6c04007374b40673f16b1a9b84cacb9b4aa8e	We describe a 56-year-old woman suspected of @DISEASE$ on the basis of the following clinical findings: microcephaly, short stature, @PHENOTYPICFEATURE$, and the clinical findings in her deceased brother.	false
+360c1ff4cfac5a45406118fe634dc6f4ab266d41	We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: @DISEASE$, short stature, @PHENOTYPICFEATURE$, and the clinical findings in her deceased brother.	false
+a494359acbe396f3ad14f4ec6fbc803fad9da922	We describe a 56-year-old woman suspected of @DISEASE$ on the basis of the following clinical findings: microcephaly, @PHENOTYPICFEATURE$, congenital deafness, and the clinical findings in her deceased brother.	false
+26e4290f836e5955a16f0a334052b63e43a6f375	We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: @DISEASE$, @PHENOTYPICFEATURE$, congenital deafness, and the clinical findings in her deceased brother.	false
+57bc563dd057656a962eb20508bc945a81228274	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, @PHENOTYPICFEATURE$, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	has_symptom
+75177c4df24a4964d7fe3033c64283c50c6ca904	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as @PHENOTYPICFEATURE$, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+7a597b57db45025533b16da81f566aab10bed8b2	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, @PHENOTYPICFEATURE$, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+8991888172066cfa42daf4f3e692ab402879488f	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as @PHENOTYPICFEATURE$, @DISEASE$, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+5c70389dc4d5814e374bd8289d7e6d4b39dd27ed	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as @PHENOTYPICFEATURE$, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. @DISEASE$ leading to bone marrow failure occurs in the first decade.	false
+0a666a7bb3fe8623e30e716f07279302d3305065	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, @PHENOTYPICFEATURE$, developmental delay and congenital heart, kidney anomalies etc. @DISEASE$ leading to bone marrow failure occurs in the first decade.	false
+6b74877f70ceb589b554893a33137fe01acb2843	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, @DISEASE$, skeletal abnormalities, @PHENOTYPICFEATURE$, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+f50611440cda3f57cdead80cc68ecc26d434d82c	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, @DISEASE$, @PHENOTYPICFEATURE$, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+18a55ac5ceaaeff2e39d38670aa0236982574e8c	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, @PHENOTYPICFEATURE$, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+1b5a5ee5493130b4d26d96aca51f6217e44964c1	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, @PHENOTYPICFEATURE$, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. @DISEASE$ leading to bone marrow failure occurs in the first decade.	false
+8b4542437a41f7eb5a5526c6746be483db07ad72	He had failure to thrive, and has @PHENOTYPICFEATURE$, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	has_symptom
+84b74d76005469cd85559cfbbb4957ad1b7b917d	He had failure to thrive, and has @DISEASE$, slight facial dysmorphism, and constitutional @PHENOTYPICFEATURE$ but no other phenotypic or hematological manifestations of Fanconi anemia (FA).	false
+57c0222d8e75c551ef5f0ba4c5b2b805a52910ef	He had failure to thrive, and has @DISEASE$, slight @PHENOTYPICFEATURE$, and constitutional short stature but no other phenotypic or hematological manifestations of Fanconi anemia (FA).	false
+5c510e9b0ab2069ee30b5b38626c4602936f59e8	He had @PHENOTYPICFEATURE$, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+30ee2c2d263e64c410004c7264c3ad168f930ee3	He had failure to thrive, and has microcephaly, slight @PHENOTYPICFEATURE$, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+7ad787bc1ce8caa8fa3e64d168f8fad914bcfb71	He had @PHENOTYPICFEATURE$, and has @DISEASE$, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of Fanconi anemia (FA).	false
+706ecc6e0b6fa79e460743fda80eceb15590e382	He had failure to thrive, and has microcephaly, slight facial dysmorphism, and constitutional @PHENOTYPICFEATURE$ but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+e77e41181f3b0f6623ea696773ee2695a55962fc	Participants 11 to 17 years old with bladder @DISEASE$, @PHENOTYPICFEATURE$ or other causes of abnormal bladder function self-administered the Child Health and Illness Profile-Adolescent Edition, a generic health related quality of life instrument.	has_symptom
+7d4186ac0b1f97ba5793198531d10f14241daa78	Diagnoses included bladder @DISEASE$ in 37 patients, @PHENOTYPICFEATURE$ in 10 and other in 3. The mean +/- SD score on the disorders domain of 14.2 +/- 6.3 was significantly worse than the population norm of 20.	has_symptom
+da1c51934f81a4f58306defc522b787592cc95f0	@DISEASE$ was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been @PHENOTYPICFEATURE$.	has_symptom
+7f2fd1d39fee85e2b11802e44d5f220cf2ba01f1	Since malformation or limbic structures are, to our knowledge, a consistent feature of @PHENOTYPICFEATURE$, it seems that limbic abnormalities could be important for the pathogenesis of mental retardation not only in @DISEASE$, but also in other acallosal patients.	has_symptom
+32fb3b36dfbeab662fc4377d8b97ed71301e12da	Since malformation or limbic structures are, to our knowledge, a consistent feature of agenesis of the corpus callosum, it seems that limbic abnormalities could be important for the pathogenesis of @PHENOTYPICFEATURE$ not only in @DISEASE$, but also in other acallosal patients.	false
+7f9dfcc903573f714322a2f27f69b347d123e065	Since malformation or limbic structures are, to our knowledge, a consistent feature of @DISEASE$, it seems that limbic abnormalities could be important for the pathogenesis of @PHENOTYPICFEATURE$ not only in Apert syndrome, but also in other acallosal patients.	false
+7df36356d3b0868710af7eb264e65b0088279c7e	@DISEASE$ (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with @PHENOTYPICFEATURE$ and atrial paralysis: heart block can eventually lead to sudden death.	has_symptom
+6502f4e1fc6952706f0c64975f914d1bbda5111f	Emery-Dreifuss muscular dystrophy (@DISEASE$) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with @PHENOTYPICFEATURE$ and atrial paralysis: heart block can eventually lead to sudden death.	has_symptom
+4ec0dff9c0f1e90747f9a5629e4b267e2645077e	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a neuromuscular disease characterized by early contractures, slowly progressive muscular weakness and life-threatening @PHENOTYPICFEATURE$ that can develop into cardiomyopathy.	has_symptom
+aff7a349a81dbf179b32463f7f87510839c4d086	@DISEASE$ (EDMD) is a neuromuscular disease characterized by early contractures, slowly progressive muscular weakness and life-threatening @PHENOTYPICFEATURE$ that can develop into cardiomyopathy.	has_symptom
+946f464aeb7a338178500ea8f69d64a992167c5c	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a neuromuscular disease characterized by early @PHENOTYPICFEATURE$, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into cardiomyopathy.	false
+5d39f3a93b2cce6e6ab9b9cd0bcfb85717913210	Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disease characterized by early @PHENOTYPICFEATURE$, slowly progressive muscular weakness and life-threatening @DISEASE$ that can develop into cardiomyopathy.	false
+b7b050a32f46288bbe11bbb0d98d39a78d38d815	Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disease characterized by early @PHENOTYPICFEATURE$, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into @DISEASE$.	false
+dcfd36c85d43582792f4562c6ac71aa4d520a04b	@DISEASE$ (EDMD) is a neuromuscular disease characterized by early @PHENOTYPICFEATURE$, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into cardiomyopathy.	false
+dbdc8aa5eca05d637e3a1dfb35e3e7bfa931b858	Emery-Dreifuss muscular dystrophy (EDMD) is a @DISEASE$ characterized by early @PHENOTYPICFEATURE$, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into cardiomyopathy.	false
+1e37a9633ad011e836e25cde1ea61a5d73a6ff5a	@DISEASE$ (EDMD) is a genetic condition associated with @PHENOTYPICFEATURE$.	has_symptom
+47e10e5021761fe09e871abc55842e7b991e2229	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a genetic condition associated with @PHENOTYPICFEATURE$.	has_symptom
+3dfbaa4ff6d9ad91899233e4ffe11c82158da671	These include @PHENOTYPICFEATURE$, hyperoxaluria, @DISEASE$, cystinuria and disturbances of purine metabolism.	has_symptom
+4324f3e1044a12eec25745cfb2b9e7208b4630fc	Namely, Dents syndrome, calcium sensing receptor mutations, familial hypopomagnesiemic @PHENOTYPICFEATURE$ (FHHNC), hypophosphatemic rickets (HHRH), @DISEASE$ (dRTA), primary hyperoxaluria (PH), cystinuria, 2-8 dihydroxyadeninuria (2-8 DHA).	has_symptom
+5445b4874e83e19ea832e9555e52aef78683b942	The frequency of @DISEASE$ was evaluated in 28 adult patients with recurrent calcium nephrolithiasis (19 with 'renal' @PHENOTYPICFEATURE$, 9 with normocalciuria and no metabolic abnormality) and no evidence of obstruction or infection of the urinary tract.	has_symptom
+16e5cab1c1ad40f3ed66636ddceb6e54fadcb271	Hereditary xanthinuria with severe urolithiasis occurring in infancy as @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+3c0ec61e19c3a14e2f9f86140ec0abbce40f66c4	Topiramate inhibits renal carbonic anhydrase, which can lead to @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+b0430f721350242c687fabb14fff72c6fa129b58	Hypocitraturia caused by @DISEASE$ or chronic diarrheal syndrome was associated with other metabolic abnormalities, such as @PHENOTYPICFEATURE$ or hyperuricosuria, or occurred alone.	has_symptom
+7366de42d98defa0e14a226862c91ef2d8e3fd65	[Bicarbonate renal diabetes (proximal or type II @DISEASE$) as a cause of marked @PHENOTYPICFEATURE$, nephrolithiasis, osteoporotic rickets and delayed somatogenital and skeletal development].	has_symptom
+2058fb0d4672b9c0864990b228f9d3478a478a03	Idiopathic @PHENOTYPICFEATURE$, Bartter's syndrome and @DISEASE$ cause medullary nephrocalcinosis, whereas cortical nephrocalcinosis is the result of renal vein thrombosis; primary hyperoxaluria is associated with cortico-medullary calcifications.	has_symptom
+8f5acff45eea5c03122d47633897aee4b03f25e3	The most common were lactose malabsorption, disturbed exocrine pancreatic function and renal tubular disturbances, including renal @PHENOTYPICFEATURE$, incomplete @DISEASE$ and mild phosphate diabetes.	has_symptom
+3ae232bb48e4ac6da71eb86dfdf8fa6bdfe28e2a	Included in the sampling, as determined by standard diagnostic criteria, were 12 patients with absorptive @PHENOTYPICFEATURE$ type I, 15 with absorptive hypercalciuria type II, 22 with renal leak hypercalciuria, 11 with normocalciuria, 6 with primary hyperparathyroidism, 3 with @DISEASE$ and 1 with Paget's disease, as well as 12 control subjects.	has_symptom
+b567dbfa8b69db05363ae4294c21e1e4b1fd7f9b	Included in the sampling, as determined by standard diagnostic criteria, were 12 patients with absorptive hypercalciuria type I, 15 with absorptive hypercalciuria type II, 22 with renal leak @PHENOTYPICFEATURE$, 11 with normocalciuria, 6 with primary hyperparathyroidism, 3 with @DISEASE$ and 1 with Paget's disease, as well as 12 control subjects.	has_symptom
+42a438b714e0ab0c5ba4f1800caf9cd77382e5ac	@DISEASE$ (TD) is one of the most common neonatal lethal skeletal dysplasias with micromelic shortening of the limbs, relative macrocephaly, @PHENOTYPICFEATURE$ and a narrow thorax.	has_symptom
+cecc27b1f027aacc13242ee7d93114338fa07434	The HDlive rendering mode clearly showed the anatomical features of @DISEASE$: external malformations and skeletal abnormalities, including extremely short limbs, @PHENOTYPICFEATURE$, and short horizontal ribs, among others.	has_symptom
+8ae4df01df219e61c4b801ae33ca3896ab8fc029	The HDlive rendering mode clearly showed the anatomical features of thanatophoric dysplasia: external malformations and skeletal abnormalities, including extremely @PHENOTYPICFEATURE$, @DISEASE$, and short horizontal ribs, among others.	false
+d17398d6e913bae082abc0c77c542e3c3033fde2	The HDlive rendering mode clearly showed the anatomical features of thanatophoric dysplasia: external malformations and @PHENOTYPICFEATURE$, including extremely short limbs, @DISEASE$, and short horizontal ribs, among others.	false
+5425938c2bec26200fdbd93d870f3643db579e5c	The HDlive rendering mode clearly showed the anatomical features of @DISEASE$: external malformations and @PHENOTYPICFEATURE$, including extremely short limbs, flattened vertebral bodies, and short horizontal ribs, among others.	false
+2f18cd6f224824bc5d8947681ffe21a66a9478dc	The HDlive rendering mode clearly showed the anatomical features of @DISEASE$: external malformations and skeletal abnormalities, including extremely @PHENOTYPICFEATURE$, flattened vertebral bodies, and short horizontal ribs, among others.	false
+a6c1b4025974446bc44e442988a8b0f4a38593e7	Diagnosis of @DISEASE$ is generally posted when there is a compression of the ophthalmic nerve or when a @PHENOTYPICFEATURE$ occurred.	has_symptom
+cbde571f089fbefb51f9b23968d81532fd991669	Clinical signs and symptoms masqueraded as a @DISEASE$ with visual disturbance and @PHENOTYPICFEATURE$.	has_symptom
+8cf36fec85ea99f27d0babd5753b9eeb70475c79	We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and @PHENOTYPICFEATURE$, and compare his phenotype to others with recessive @DISEASE$ in the literature.	has_symptom
+2f75fca2d8f4b6e9d1a2a082e27b507b1f50f54f	We report on an African-American patient with alopecia universalis, @PHENOTYPICFEATURE$, hypogonadism, and mental and @DISEASE$, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature.	false
+5584f433b887f5950407d2ac3aa79acb8d888054	We report on an African-American patient with alopecia universalis, @PHENOTYPICFEATURE$, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive @DISEASE$ in the literature.	false
+486683bf4dedae26d2a2f6e354dc56d68e4895b6	Etiology included @PHENOTYPICFEATURE$ with/without glioneuronal tumor in 19 patients (83%), sole glioneuronal tumor in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	has_symptom
+20af54e0795bea1b15dafe5c10b120d573a8740e	Etiology included @DISEASE$ with/without glioneuronal tumor in 19 patients (83%), sole @PHENOTYPICFEATURE$ in 2, and tuberous sclerosis and Rasmussen encephalitis in 1 each.	false
+a2436fcc5b7be877e3bb8906a3205b48698b0807	Etiology included cortical dysplasia with/without @PHENOTYPICFEATURE$ in 19 patients (83%), sole glioneuronal tumor in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+a1945c4d66f94ad301a1a9bf8335be0f596d5b15	Etiology included cortical dysplasia with/without glioneuronal tumor in 19 patients (83%), sole @PHENOTYPICFEATURE$ in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+f17e83f5a23c7f65be3ad2d00bd7b8a18f4a4226	Etiology included @DISEASE$ with/without @PHENOTYPICFEATURE$ in 19 patients (83%), sole glioneuronal tumor in 2, and tuberous sclerosis and Rasmussen encephalitis in 1 each.	false
+3c2f72cc3e479600b65375e17e3033f23b602780	As a proof of principle @DISEASE$, ataxia with oculomotor apraxia 1 (AOA1), spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy 1 (SCAN1) and ataxia-telangiectasia have recently been shown to have mitochondrial dysfunction and those diseases showed strong association with mitochondrial disorders.	has_symptom
+4c3f0ea6a68821576754205d96fb2abfbac9868f	As a proof of principle @DISEASE$, @PHENOTYPICFEATURE$ with oculomotor apraxia 1 (AOA1), spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) and ataxia-telangiectasia have recently been shown to have mitochondrial dysfunction and those diseases showed strong association with mitochondrial disorders.	has_symptom
+d77fd2d969c72db494750955c8a37a4c4a9beb5b	Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, Werner syndrome, Rothmund-Thomson syndrome, @DISEASE$, @PHENOTYPICFEATURE$ teleangiectasia, and Down syndrome) illustrate that among the most important biological processes involved in skin aging are alterations in DNA repair and stability, mitochondrial function, cell cycle and apoptosis, ubiquitin-induced proteolysis, and cellular metabolism.	has_symptom
+e2361401c8fd69b079fb8d353cc3e0a023e99606	Early postnatal @PHENOTYPICFEATURE$ and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and @DISEASE$ Group B DNA repair genes.	has_symptom
+ce39e0ad682d339253435e8222161018c5b7c39d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	has_symptom
+c85343ebad03ade69e9127b7179cc0fb8b7d735d	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+dbe2143d2bc9805d07bac4088546d9bbf2ea0f5b	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+7fe53f1a3bee4d1a7a7fe1090e36eb61529af53a	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2e95e18faa49e9844364bd6df7ae34ec60d4c54a	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @DISEASE$, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+74786586724a575678702a983930b23a55deea62	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @DISEASE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+2ac2a9c39f597da74c00319cb7fabef720db2146	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+500ff6126cd74bd5b9951f1fb877f76cfd360f15	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e577047cfc349c0d037680387ea922ca2bc9559d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2c971b949d0fa6132b3ab3fd14483bba1e624182	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+2ecf8b4c99fe1f2e5ff81d8a2abba5f79261fcab	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+42415993a14e8e679004594d6975b5be6401e637	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+0e38076c251718c464600bc02f244bb4f84d5007	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0113f5a1dc4887245f2d966cf2e28efa78096d81	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+b0d0c1ad578e747ba7c20ae79e3acfcf6626b88a	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, @DISEASE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+f68e13015fd03a5d1b689bc9b00fc6bb1bee18c0	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce3db0aeb99a63fe5b67f738ff7a2e666685718f	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+1d2636a215fee336acfdb1ffc095a31a0f41c09c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+43bd9f61f1203850f530db9486bc4df7d67ebe29	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+70d11c3ec36fa92d2ee53d378132bf25185fcc74	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, @DISEASE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+723e4f1ab87188451cc43edc5a3eb1c60e9cfe64	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @DISEASE$, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+605eda68e75e074ed183d334321e6a5d58bbcb3e	Cockayne syndrome is an @DISEASE$, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0f5523d9a91eeaa1fdf79147ab01d1457f32dc31	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e4039a657fde1aca44cadf380d4b9ed8ca3dbdab	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2d66d29a331346dbecdc7c2b1d6d5e7f5bbdde9a	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @DISEASE$, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+b785d2ec5cbeaa4b4c89ad159aeab7740ce40e66	Mutations in the @DISEASE$ genes (the CSA and CSB genes acting for preferential repair of active genes by interacting with transcription factor TFIIH) and in the @PHENOTYPICFEATURE$ telangictasia gene ATM (homologous with PI-3 kinase for signal transduction) have been disclosed.	has_symptom
+4c5a98f90c80509007370841d80453620fbf8313	[A case of @DISEASE$ with @PHENOTYPICFEATURE$ improved after TRH therapy (author's transl)].	has_symptom
+4dc1797b0cbd7b3e2018e01cb7b74de0faec7f6e	Congenital @PHENOTYPICFEATURE$ occur when normal embryonic development is interrupted and most commonly results in @DISEASE$ or omphalocele.	has_symptom
+f73af510a877eab43efb72ea7a0560c5939477e7	Homozygous mutations in the facilitative glucose transporter GLUT2, which cause @DISEASE$, can lead to very different clinical and biochemical findings that are not limited to mild proximal renal tubulopathy but can include significant hypercalciuria and highly variable degrees of urinary phosphate-wasting and @PHENOTYPICFEATURE$, possibly because of the impaired proximal tubular expression of Npt2c.	has_symptom
+f0619afedbba677f2c20100f065e8e49e784388d	@DISEASE$ or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, @PHENOTYPICFEATURE$, hearing loss and chronic skeletal pain.	has_symptom
+29d8195bba8cf6887dea87305f569100d9429e63	Camurati-Engelmann disease or @DISEASE$ is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, @PHENOTYPICFEATURE$, hearing loss and chronic skeletal pain.	has_symptom
+5ecbad0aad76c90641ad35410d0db95decb12026	Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, @DISEASE$ and chronic skeletal @PHENOTYPICFEATURE$.	false
+57ce0e01692d41225f6033dcd5bf7ebe98b13ff9	@DISEASE$ or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal @PHENOTYPICFEATURE$.	false
+27458f2e6d32acc1c65fc2dc0b0e1c57bd8f3308	Camurati-Engelmann disease or @DISEASE$ is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal @PHENOTYPICFEATURE$.	false
+2543bc2b412496daaa6a7c1c9a6484b2975828ea	Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare @DISEASE$ characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal @PHENOTYPICFEATURE$.	false
+b62be5bb319eff3a47cd2edbce8dd325bbe754e2	Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, @DISEASE$, hearing loss and chronic skeletal @PHENOTYPICFEATURE$.	false
+5c3c93390b9cd5cdbd4d73b20c801c38ef59e54d	@DISEASE$ is characterized clinically by crippling leg pain, fatigue, headache, poor appetite, @PHENOTYPICFEATURE$, and waddling gait.	has_symptom
+15f5a835e142e517068bf87337733cd754d3bcac	Most patients of CED (also known as @DISEASE$ and oeteopathica hyperostotica multiplex infantalis) present with extremity pain, @PHENOTYPICFEATURE$, and waddling gait.	has_symptom
+a32a7067d7d5fe90af138a437d3481fd78f8833e	Cells were isolated from hearts of hamsters developing @DISEASE$ (CMP) (strain BIO 14.6) at 12-14 months of age with overt signs of @PHENOTYPICFEATURE$.	has_symptom
+ec94c7d78b4b550b1a72cffc1411ad3e5629604a	The BIO 14.6 strain of hamster is a model of @DISEASE$ complicated by @PHENOTYPICFEATURE$, sodium retention, and edema.	has_symptom
+8c40233f86f7e5a512a842136ad0e34a3bad7780	The BIO 14.6 strain of hamster is a model of familial cardiomyopathy complicated by @DISEASE$, sodium retention, and @PHENOTYPICFEATURE$.	false
+d9d78260d62aabd60297cfc81cf39b6614f706ba	The BIO 14.6 strain of hamster is a model of @DISEASE$ complicated by congestive heart failure, sodium retention, and @PHENOTYPICFEATURE$.	false
+f96063a3591bac22223c8bb463402cb2be423ce8	@PHENOTYPICFEATURE$ and Ca++ activation of the cardiac contractile system: @DISEASE$ in hamsters (BIO 14.6), isoprenaline overload and the effect of APP 201-533.	has_symptom
+61897093ffd564633081fc153a754ed75edcd9bd	@PHENOTYPICFEATURE$ is a final common clinical pathway for several diseases in childhood, such as @DISEASE$, viral myocarditis, inborn errors of metabolism, and autoimmune disorders.	has_symptom
+aba82122abf681a00a9528ef68a116c897f34937	Our results suggest that the increase in the NHE-1 level and the consequent Na(+) and Ca(2+) overloads are implicated in the pathological process leading to @PHENOTYPICFEATURE$ and early death in HCMHs, and treatment with the NHE-1 inhibitor is promising for preventing early death in @DISEASE$.	has_symptom
+aafe9afc8386cbf80ce04813b545e111bc150a8a	In the present paper, two experimental models of @PHENOTYPICFEATURE$, namely @DISEASE$ in hamsters (BIO 14.6) and cardiac insufficiency due to mild (0.06 microM) isoprenaline overload of rabbit isolated perfused hearts, were compared in terms of resulting alterations at the level of the functionally isolated contractile system of detergent/glycerol treated skinned cardiac fibres.	has_symptom
+e00074b1d059f2b7d0639860329a2a6479506a76	These factors should be considered in the assessment of individuals with LV trabeculations outside the context of symptoms of @PHENOTYPICFEATURE$ or @DISEASE$.	has_symptom
+a3d956cfa6b1e74be23f85b538ae4334dfce3cc1	Clinical manifestations and chromosome breakage, consistent with @DISEASE$, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient [Farrell et al., 1994: Am J Med Genet 50:98-99], or with VACTERL association with @PHENOTYPICFEATURE$, recently reported in 3 patients [Toriello et al., 1991: Proc Greenwood Genet Center 11:142; Porteus et al., 1992: Am J Med Genet 43:1032-1034], underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease.	has_symptom
+5cc93658512a28c6bd4a0d3f517a56cbc6fa60d7	Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient [Farrell et al., 1994: Am J Med Genet 50:98-99], or with VACTERL association with @PHENOTYPICFEATURE$, recently reported in 3 patients [Toriello et al., 1991: Proc Greenwood Genet Center 11:142; Porteus et al., 1992: Am J Med Genet 43:1032-1034], underline the clinical heterogeneity of @DISEASE$ and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease.	has_symptom
+29b782b3a4b696b3a5645ad47746ef440eb15338	@DISEASE$ in brothers initially diagnosed with VACTERL association with @PHENOTYPICFEATURE$, and subsequently with Baller-Gerold syndrome.	has_symptom
+2a9753d822a0f7de7edebb2968af863b934b87dc	In this study, we show that inactivation of the Foxo3a gene in two mouse models of @DISEASE$ (FA) leads to the development of @PHENOTYPICFEATURE$ in late embryonic stage and after birth.	has_symptom
+4d331dc10b45b0f9208d284b4ed29a3cd7100b92	X-linked VACTERL-@PHENOTYPICFEATURE$ syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies @DISEASE$ (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross-linking agents.	has_symptom
+8c227f48aeeaccd15f0204fe2d13690cb576492e	[Neuroimaging features in @DISEASE$: their correlation with @PHENOTYPICFEATURE$].	has_symptom
+5e71e128a1deee8e1814630cbaf1a4150a729f4a	We present a rare case of @DISEASE$ (MPS) with a typical presentation of @PHENOTYPICFEATURE$ and absence of corneal clouding.	has_symptom
+cabfeb8ab191b5fab9f8650134bf2381e2c901d7	[@DISEASE$ of Hurler type I without @PHENOTYPICFEATURE$ in an adult and his two cousins].	has_symptom
+f6f0dcb068c1dda7e84158e917e416f9b2a9bcb0	Because phenotypic manifestations of @DISEASE$ are mild in all four types of Sanfilippo's syndrome and screening tests for mucopolysacchariduria in these patients may be negative, many cases may be passed unrecognized or simply labelled as cases of nonspecific @PHENOTYPICFEATURE$.	has_symptom
+a3aa00a045a7f3ffed3e4c0d1b7747183556ac46	The first clinical measure is to differentiate all the intrinsic causes from auxologic and normal psychomotor development related to ethnic, racial and hereditary differences (generalized congenital or idiopathic hypertrichosis) and congenital causes within the context of a multi-malformation syndrome in which hirsutism is associated with @PHENOTYPICFEATURE$ (Corn?lia de Lange's syndrome), major hypotrophy (leprechaunism) or with abnormalities of the limbs (Rubinstein Taybi's syndrome or @DISEASE$).	has_symptom
+559ee7bd0fa1603636c70944044debaf85818529	Nine other patients with various types of @DISEASE$ also had cranial CT performed and in general those types associated with @PHENOTYPICFEATURE$ showed changes although there was an interesting exception involving a case of MPS IIIA who had a normal CT scan.	has_symptom
+6f20742b0819241c5df9f93f82f0b320bd59d9fd	Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with @PHENOTYPICFEATURE$, ataxia, and clinical and radiologic findings of a mild @DISEASE$.	has_symptom
+803625d8f8838e8814d67f9bc2d98950b9028d91	Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$, and clinical and radiologic findings of a mild mucopolysaccharidosis.	false
+c1373f0793722d9bbf152bb494108ba66e973fe0	Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, @PHENOTYPICFEATURE$, and clinical and radiologic findings of a mild @DISEASE$.	false
+857c2c70d32c1511c0516416cce0a5e523d10d19	A deficiency of beta-glucuronidase (GUSB) causes the multisystem progressive degenerative syndrome, @DISEASE$ (MPS) type VII (Sly disease), which includes @PHENOTYPICFEATURE$.	has_symptom
+00df9f5ae65dbac4f5de9597f3c355b8d3a8d49d	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or @DISEASE$ (cachectic dwarfism, cataracts, pigmentary retinopathy and @PHENOTYPICFEATURE$) were absent.	has_symptom
+c8a48512a6968c06d73849ca10a9c6b57aa596a2	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, @PHENOTYPICFEATURE$, pigmentary retinopathy and @DISEASE$) were absent.	false
+add8efbd8741f9ee406dd8c89df944a154211673	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, @PHENOTYPICFEATURE$, pigmentary @DISEASE$ and spasticity) were absent.	false
+6063ee44f1a757367461fa00cc2b4a04bcfe191f	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or @DISEASE$ (cachectic dwarfism, @PHENOTYPICFEATURE$, pigmentary retinopathy and spasticity) were absent.	false
+8a6fabaff074d43adea3f3793be79e53ba359679	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	has_symptom
+d5bda4680b5504cbeadc35b83bc13899c22ba86b	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+f056a728c9e4c8ea289c6f3b89b15d87ca3c91de	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+ad7dccf010e886ad92367683d7fb1dd8839fc953	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+b325bbf9d24868f3974ca68082d7b75385a3d67c	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and @DISEASE$.	false
+eb74973ffd5b1cc5551408d8048c37fbc5404c78	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, @DISEASE$, short stature, and hypogonadism.	false
+3e02a54948d1954ae137bbce872e88dfb944a44d	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fda3aeb602bb537109a00afef6afb70f1d9012c6	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+c6c3d1f75db15827cdeb39f061db2a00c4378c00	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+7cc392ed98816a1652fd7807f8c65b245dbdce86	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+d02d3237c266c158560337bf3edb11ca87e90901	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+714ce7ba38aaefac8044e05d15c396e7f1cbc14e	The @DISEASE$ is a rare condition characterized by low birth weight, @PHENOTYPICFEATURE$, short stature, learning disabilities, and osteopoikilosis.	has_symptom
+4110bd758e79fa631fa1a74a4141a599829ea1c7	The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, @DISEASE$, @PHENOTYPICFEATURE$, learning disabilities, and osteopoikilosis.	false
+7e2cc9c270cd87d74602cc21c78819921fbf6c53	The @DISEASE$ is a rare condition characterized by low birth weight, failure to thrive, @PHENOTYPICFEATURE$, learning disabilities, and osteopoikilosis.	false
+3f86de652f20113e8c3c5f254c47bd62baa143fa	The @DISEASE$ is a rare condition that has previously been characterized by pre- and postnatal growth restriction, proportionate short stature, @PHENOTYPICFEATURE$, developmental delay, and osteopoikilosis.	has_symptom
+b1faf83eace93e0998b10a93865a17dddb03106a	The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, @PHENOTYPICFEATURE$, failure to thrive, developmental delay, and @DISEASE$.	false
+6f7da56818c2817c4a199ee7a34a7187f0f9c0b8	The @DISEASE$ is a rare condition that has previously been characterized by pre- and postnatal growth restriction, @PHENOTYPICFEATURE$, failure to thrive, developmental delay, and osteopoikilosis.	false
+426264e45fae4a2e00cd8d656af6c8f8037eef83	The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, and osteopoikilosis.	false
+2d9f263a5ddc35c4908c91691bba8c251a3fdb40	@PHENOTYPICFEATURE$ and nephrotic syndrome were more severe in AL than @DISEASE$ (p=0.0836).	has_symptom
+b5d2a506c427931ca7b6bcb8da5eaa0216085ac1	We tested the hypothesis that oral beclomethasone dipropionate (BDP) would control gastrointestinal graft-versus-host disease (@DISEASE$) in patients with anorexia, @PHENOTYPICFEATURE$, and diarrhea.	has_symptom
+9914d9fa5f38bb82239e0d59169a1752d0afa332	Intestinal graft-versus-host disease (@DISEASE$) causes anorexia, @PHENOTYPICFEATURE$, abdominal pain, and diarrhea.	has_symptom
+fb0dfa702b77dfcf8ee1eff103187b4a169acb65	Intestinal graft-versus-host disease (GVHD) causes anorexia, vomiting, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1c07948b3989aaba75972f9f196643ad5ca30804	Intestinal graft-versus-host disease (GVHD) causes anorexia, @DISEASE$, @PHENOTYPICFEATURE$, and diarrhea.	false
+d50e2e0665208f5c1bac9706428415bdc881cdbb	Intestinal graft-versus-host disease (@DISEASE$) causes anorexia, vomiting, @PHENOTYPICFEATURE$, and diarrhea.	false
+f8944dd39d2ce2c54317f01a50ebff83d202eaa1	A recurrent missense mutation of keratin 1 gene in a Chinese family with @DISEASE$ (severe @PHENOTYPICFEATURE$, type 1).	has_symptom
+6f057a0a6156fa232701190ad364c59263377545	A novel threonine to proline mutation in the helix termination motif of keratin 1 in @DISEASE$ with severe @PHENOTYPICFEATURE$ and contractures of the digits.	has_symptom
+cc914a7f274d70447600d94e5431737bf2bc16b7	A novel threonine to proline mutation in the helix termination motif of keratin 1 in @DISEASE$ with severe palmoplantar hyperkeratosis and @PHENOTYPICFEATURE$ of the digits.	false
+c1972a5e300ea00c40c7f88b3120f1d7f0134f81	A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe @DISEASE$ and @PHENOTYPICFEATURE$ of the digits.	false
+19fc0d3e997c37400d348c070c8a632bf569f487	A frameshift mutation in the gene for PAX3 in a girl with @PHENOTYPICFEATURE$ and mild signs of @DISEASE$.	has_symptom
+90627551e0c4d906087706064f9753dad0bf2980	Patients with @PHENOTYPICFEATURE$ in the setting of @DISEASE$ and fragile X syndrome were also identified and will be discussed.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ec047c823fb2638f97849ed120254adc48fa872f	@DISEASE$ is characterized clinically through infantile IDDM, propensity for liver failure following viral infections, bone dysplasia and growth failure and @PHENOTYPICFEATURE$.	has_symptom
+e869698d93345d78f8c54ec86ffec046f317e798	Examples of genetic disorders with associated @PHENOTYPICFEATURE$ include Menkes syndrome, Netherton syndrome, @DISEASE$, trichothiodystrophy, and loose anagen hair syndrome.	has_symptom
+ae551b4f47a8901fb78a97d31bcddcff2eafe6db	Congenital @PHENOTYPICFEATURE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	has_symptom
+29c614d518f5a4d9d8f24a69ea8f6db2bb9e7b6a	Congenital @DISEASE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), Woolly hair, @PHENOTYPICFEATURE$ with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+2d752c8e9a106b5291cd185ca7bd4f860a2781d5	Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and @PHENOTYPICFEATURE$ nevus.	false
+ad8191568368ea2b74fe04cae6443b6818a84dad	Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), Woolly hair, @PHENOTYPICFEATURE$ with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+620fbb2d6ef8aa064a6bf018508d43405577d269	Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), @PHENOTYPICFEATURE$, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+ec231a89fc6e061dd22135b06ef75e98cf3a1506	Congenital @DISEASE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), @PHENOTYPICFEATURE$, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+4a59e21caead0bc01bc70a0213e830a0f6263418	Congenital @DISEASE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and @PHENOTYPICFEATURE$ nevus.	false
+587a5c0447064d72ee7afc3566be17fcadcdd66b	These people may develop the @DISEASE$ (FXTAS), a late onset neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and parkinsonism.	has_symptom
+6380406ced577f61483c9a1737cbdfde93204d57	The condition was named @DISEASE$ (FXTAS) and includes intentional tremor, @PHENOTYPICFEATURE$, parkinsonism, and cognitive deficit.	has_symptom
+4122aff4a82c0083b5c258d73a17bac16272f28a	The condition was named @DISEASE$ (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and @PHENOTYPICFEATURE$.	false
+29e035465c4930a60ae55b4bf58104c62c1ea1ef	The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, @DISEASE$, parkinsonism, and @PHENOTYPICFEATURE$.	false
+10eb91dcff20f2323dd1790e3d66743479c2903a	@DISEASE$ (FXTAS) presents as complex movement disorder including tremor and @PHENOTYPICFEATURE$.	has_symptom
+aa8cf88fa00aa6c17e8127757bb39d8fa7e048ee	@DISEASE$ (FXTAS) is a late-onset multisystem neurological disorder characterized by intention tremor and @PHENOTYPICFEATURE$.	has_symptom
+e519b04c830177fe5e41260b5077dd7a87101c85	Late-onset Friedreich's @PHENOTYPICFEATURE$, spinocerebellar ataxia type 6 and 2, and @DISEASE$ account for most sporadic hereditary ataxias.	has_symptom
+2461adccfbd6a23a9b5f7580577499f938ba0b77	Patients with @DISEASE$ typically have @PHENOTYPICFEATURE$, intranuclear inclusions in neurons and astrocytes, as well as cognitive impairment.	has_symptom
+d6c982b25bb36b4a4421de8a6802baca5372dda4	[Fragile X premutation presenting as postural tremor and @PHENOTYPICFEATURE$ (@DISEASE$)].	has_symptom
+ef5505007a3dcec72422b216c2f95c4266027cc9	@DISEASE$: An under-recognised cause of tremor and @PHENOTYPICFEATURE$.	has_symptom
+7acaa4ad00c581c763dc15de9509a9830debf97d	@DISEASE$ (FXTAS) is a late onset neurodegenerative disorder, characterized by tremors, @PHENOTYPICFEATURE$, impaired coordination, and cognitive decline.	has_symptom
+a90a2a3f66b78da26094111f3e46128304eb613a	The @DISEASE$ is characterized by intention tremor and @PHENOTYPICFEATURE$ in people who are premutation carriers of the Fragile X gene.	has_symptom
+821c09c037c761f23e6b342ba0acc9c17fb65422	@DISEASE$ includes growth retardation, neurological effects as @PHENOTYPICFEATURE$, limbs malposition, lung or bowel hyperechogenicity.	has_symptom
+873a734b702ff8dcc90e68208b931897b152dfda	Congenital varicella syndrome includes @PHENOTYPICFEATURE$, neurological effects as @DISEASE$, limbs malposition, lung or bowel hyperechogenicity.	false
+441c7c635af10eea7781d319ee9125ffc99f70b9	@DISEASE$ includes @PHENOTYPICFEATURE$, neurological effects as microcephaly, limbs malposition, lung or bowel hyperechogenicity.	false
+372077e8eefad1ef28d706f7d66fa2455237c213	This, along with the histories of his mother and her relatives and with the existence of multiple @PHENOTYPICFEATURE$, led us to confirm the diagnosis of @DISEASE$, not of ACKD.	has_symptom
+2c98e6c2da3e75f9f30fe80dc653f9c0a96a119f	At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with @PHENOTYPICFEATURE$ (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying @DISEASE$ in an MH and/or CCD family have been reported only rarely.	has_symptom
+e6264f8e24b4a236b30ce2e2d6b5c495a604cbcd	@DISEASE$, central core disease, @PHENOTYPICFEATURE$ susceptibility, and RYR1 mutations: one disease with many faces?	has_symptom
+3de75ded8e97ec554ba050ae92258dcabab2d064	@DISEASE$, resulting from the protozoan Trypanosoma cruzi, is an important cause of heart failure, stroke, @PHENOTYPICFEATURE$, and sudden death.	has_symptom
+1b8d49e120e7db352f41a90c95f278f7d11b8fbb	Chagas disease, resulting from the protozoan Trypanosoma cruzi, is an important cause of @PHENOTYPICFEATURE$, stroke, @DISEASE$, and sudden death.	false
+59489d58d8e5d7cd676ee831d25e3acf4fc08cc6	@DISEASE$, resulting from the protozoan Trypanosoma cruzi, is an important cause of @PHENOTYPICFEATURE$, stroke, arrhythmia, and sudden death.	false
+cee9bfe3a58cd557706b5851eb38475186b02631	Respiratory sinus @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+50c6dcbc154c47203bb0d43f9f501dbf48894e46	Because of this, @DISEASE$ should be considered on the list of differential diagnoses for cases of @PHENOTYPICFEATURE$, dilated cardiomyopathy, or heart failure in south-central Texas.	has_symptom
+61d867654f6dac812be7f8a2bc52bc4eca0674a8	Because of this, @DISEASE$ should be considered on the list of differential diagnoses for cases of cardiac arrhythmia, dilated cardiomyopathy, or @PHENOTYPICFEATURE$ in south-central Texas.	false
+e8bc4272e7a498f7bf7aad8698134b244f22dd7a	Because of this, Chagas disease should be considered on the list of differential diagnoses for cases of @DISEASE$, dilated cardiomyopathy, or @PHENOTYPICFEATURE$ in south-central Texas.	false
+b16b83e9d257cd9330010000e5dc0fdd65672b61	Because of this, Chagas disease should be considered on the list of differential diagnoses for cases of cardiac arrhythmia, @DISEASE$, or @PHENOTYPICFEATURE$ in south-central Texas.	false
+60baa6455aeaca0abbf21fe8042a1d56dcabefc9	During @DISEASE$, many patients die of @PHENOTYPICFEATURE$ despite the apparent benefits of anti-arrhythmic therapy (e.g., amiodarone).	has_symptom
+27c77f305b0cd43d3b7c676c6e7becca2728ec19	In a cross-sectional study, we compared @DISEASE$ patients without cardiac involvement and normal individuals using the Valsalva maneuver in order to study the vagal cardiac control and the occurrence of @PHENOTYPICFEATURE$ in the early phase of Chagas disease.	has_symptom
+3072ebed3e4f128b2817c8c5fd9239ed3aabf739	In a cross-sectional study, we compared Chagas disease patients without cardiac involvement and normal individuals using the Valsalva maneuver in order to study the vagal cardiac control and the occurrence of @PHENOTYPICFEATURE$ in the early phase of @DISEASE$.	has_symptom
+5bb9594f42066c17ff026194a598a61bfbc5e24e	Chronic Chagas cardiomyopathy (CCC) is a late complication of @DISEASE$ with various manifestations including @PHENOTYPICFEATURE$, heart failure, thromboembolism, and stroke.	has_symptom
+1c9bdbddf2b5f8d58fd62a6d1039490593104ed5	Chronic @DISEASE$ (CCC) is a late complication of Chagas disease with various manifestations including arrhythmia, @PHENOTYPICFEATURE$, thromboembolism, and stroke.	false
+5d62e6356a73c48938d90360cec47a6b08b6bdb7	Chronic Chagas cardiomyopathy (CCC) is a late complication of Chagas disease with various manifestations including @DISEASE$, @PHENOTYPICFEATURE$, thromboembolism, and stroke.	false
+e43c018a2138648429a79d41cd291805060d0970	Chronic Chagas cardiomyopathy (CCC) is a late complication of @DISEASE$ with various manifestations including arrhythmia, @PHENOTYPICFEATURE$, thromboembolism, and stroke.	false
+c1ad2302bc774cb62b696a1079ac6637c7146bb1	I. Physiopathology of @PHENOTYPICFEATURE$ and sudden death in @DISEASE$ patients].	has_symptom
+42b9b1cd2c3aa13abcc87ebb97fb4c88b63fc997	We recently came across a case of a patient in the indeterminate phase of @DISEASE$ who died suddenly with @PHENOTYPICFEATURE$ associated with acute infarction of the right carotid body due to occlusive thrombosis in the glomic artery.	has_symptom
+7db0c151cc6ed61112019797a52547fec978d9a9	The severity of ventricular arrhythmia correlates with the extent of myocardial sympathetic denervation, but not with myocardial fibrosis extent in chronic Chagas cardiomyopathy : @DISEASE$, denervation and @PHENOTYPICFEATURE$.	has_symptom
+c21c0a76443603351a4ca80f892f0dff9644082c	The severity of @PHENOTYPICFEATURE$ correlates with the extent of myocardial sympathetic denervation, but not with myocardial fibrosis extent in chronic Chagas cardiomyopathy : Chagas disease, denervation and @DISEASE$.	false
+2d8c2ef88d373adafd693c5400e319d581fe4efe	The severity of @PHENOTYPICFEATURE$ correlates with the extent of myocardial sympathetic denervation, but not with myocardial fibrosis extent in chronic Chagas cardiomyopathy : @DISEASE$, denervation and arrhythmia.	false
+ee70ffd1291a3926586954c7d86cbb5cbf774817	The severity of @PHENOTYPICFEATURE$ correlates with the extent of myocardial sympathetic denervation, but not with myocardial fibrosis extent in chronic @DISEASE$ : Chagas disease, denervation and arrhythmia.	false
+02956e320b0d9655d23202f06c2ebab469c26c76	@DISEASE$ (8.5%), @PHENOTYPICFEATURE$ (5.1%), cardiomyopathies (4.3%), and others (7.3%).	has_symptom
+37bbdc827a2943df00e3e90c9b9cd7fdf6e19bf4	After excluding patients for renal failure or @DISEASE$ failure, @PHENOTYPICFEATURE$, and intracranial disease, seven patients were studied.	has_symptom
+8bbe9b7ce0e13bcc946bfc58b20309ab0589a53f	After excluding patients for @PHENOTYPICFEATURE$ or hepatic failure, @DISEASE$, and intracranial disease, seven patients were studied.	false
+2d51e161081dc08395cd9017545ed77a4545cfaa	After excluding patients for @PHENOTYPICFEATURE$ or @DISEASE$ failure, blindness, and intracranial disease, seven patients were studied.	false
+3269bfb0046f93b4951fd54772fc95a249a8c2ac	Essential hypertension, @DISEASE$ deficiencies, osteoporosis, deafness, @PHENOTYPICFEATURE$, and other effects of premature aging may be encountered making perioperative management a challenge.	has_symptom
+63f066aff7421d128a2d64b7905c988719d64118	Essential hypertension, @DISEASE$ deficiencies, osteoporosis, @PHENOTYPICFEATURE$, blindness, and other effects of premature aging may be encountered making perioperative management a challenge.	false
+0ee1b1bbd295d03ae63640e8d2996748573948bd	Essential hypertension, hepatic deficiencies, osteoporosis, @PHENOTYPICFEATURE$, @DISEASE$, and other effects of premature aging may be encountered making perioperative management a challenge.	false
+55fe5f4a59540305a1884c48bf768a80b01e0579	Essential hypertension, hepatic deficiencies, @DISEASE$, @PHENOTYPICFEATURE$, blindness, and other effects of premature aging may be encountered making perioperative management a challenge.	false
+13a19c6c5d78d9df4ada91e4df7ab0676fcc1878	A novel gene for @DISEASE$: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and @PHENOTYPICFEATURE$.	has_symptom
+3643540c4b4aa61a09ee191b0ecba9d3550a54c8	The @DISEASE$ (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising @PHENOTYPICFEATURE$, arthritis, and urticaria.	has_symptom
+8468cbb88b73ed21b1348b1d35d825420b9c1ff2	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of @DISEASE$ (OHSS), @PHENOTYPICFEATURE$, vomiting and diarrhoea.	has_symptom
+1846a37350807ff8dd49d189e5995f6648f252a9	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of ovarian hyperstimulation syndrome (@DISEASE$), @PHENOTYPICFEATURE$, vomiting and diarrhoea.	has_symptom
+b02ba1608a5943755e500388bb36deaff52fcb5d	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of ovarian hyperstimulation syndrome (OHSS), @DISEASE$, @PHENOTYPICFEATURE$ and diarrhoea.	false
+c4e77dc41c40a1d5b943decea738e1ce94a0281c	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of ovarian hyperstimulation syndrome (@DISEASE$), abdominal pain, @PHENOTYPICFEATURE$ and diarrhoea.	false
+458b12ced62ca1d7a57d48faf3a5a828510c283c	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of @DISEASE$ (OHSS), abdominal pain, @PHENOTYPICFEATURE$ and diarrhoea.	false
+0bb36b346ec59e13f73cad39de59ce64a4261baf	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of ovarian hyperstimulation syndrome (OHSS), abdominal pain, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8e62bb7723ef9d73ccc9bcb42f93bdbb60ef10d2	We report a case of severe @DISEASE$ associated with a spontaneous normal singleton pregnancy in a 23-year-old woman presenting with severe @PHENOTYPICFEATURE$, vomiting, and dyspnea.	has_symptom
+c3953ad353e400208fa30b92321b86c1af46a5c8	We report a case of severe OHSS associated with a spontaneous normal singleton pregnancy in a 23-year-old woman presenting with severe @DISEASE$, @PHENOTYPICFEATURE$, and dyspnea.	false
+31f965d2c61ab3b9f3888c84650b38ee5b922e69	We report a case of severe @DISEASE$ associated with a spontaneous normal singleton pregnancy in a 23-year-old woman presenting with severe abdominal pain, @PHENOTYPICFEATURE$, and dyspnea.	false
+cd8b90baa29267b2fc03c18a6835ebb0d4e75984	@DISEASE$ is a critical diagnosis in emergency medicine, and emergency physicians must consider it in the differential for any female nontrauma patient presenting with hypotension, tachycardia, and @PHENOTYPICFEATURE$.	has_symptom
+92e243c52c42414eba3c042d8132b1f76edcad38	Two women with @DISEASE$ who had acute lower @PHENOTYPICFEATURE$, nausea, and vomiting, and were found to have acute adnexal torsion.	has_symptom
+6a094d52a2f2bfd64727dabf37c9177ed83ee78d	Two women with OHSS who had acute lower @DISEASE$, @PHENOTYPICFEATURE$, and were found to have acute adnexal torsion.	false
+64ba3f72d92e9a0fd61f7ba7222d6669517cb517	Two women with @DISEASE$ who had acute lower abdominal pain, @PHENOTYPICFEATURE$, and were found to have acute adnexal torsion.	false
+17a815d9ee302316b6bdc07c9ba4d0cd88856f0c	To describe the @PHENOTYPICFEATURE$ in patients with @DISEASE$ (ChAc), a form of neuroacanthocytosis.	has_symptom
+7bfc4e1493852c51377f828824d8813ea1d55a6c	@DISEASE$ (OTCD) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, @PHENOTYPICFEATURE$ and cerebral edema.	has_symptom
+590bd8cbc3b93b6bd0411a640bd38c814a227468	Ornithine transcarbamylase deficiency (@DISEASE$) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, @PHENOTYPICFEATURE$ and cerebral edema.	has_symptom
+12a5bac95cf1ae2bd9113b1b21d3dcafb763ef53	The acute onset @DISEASE$ begins with the symptoms of @PHENOTYPICFEATURE$ and unconsciousness, with rapid rise of blood ammonia level.	has_symptom
+2f582566c0df4cc46fe405c01a622007754e8234	@DISEASE$ is the most common urea cycle defect and typically is diagnosed in male infants with irritability, poor feeding, @PHENOTYPICFEATURE$, lethargy, and often death caused by the effects of hyperammonemia.	has_symptom
+1d621aba98bc7bf9e168a699e4b0903749115f6c	Individuals with this Marfanoid disorder lack the ocular findings of @DISEASE$ and often have dysmorphic features such as unusual facies, @PHENOTYPICFEATURE$, and contractures.	has_symptom
+755eabc281cdc38e18ca373c058f1220f17a9813	Individuals with this Marfanoid disorder lack the ocular findings of @DISEASE$ and often have dysmorphic features such as unusual facies, cleft palate, and @PHENOTYPICFEATURE$.	false
+d05917d7a3407f2c9d7e17bc1dc4c7299f86871c	Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as @PHENOTYPICFEATURE$, @DISEASE$, and contractures.	false
+16ea8a31671e0bc59b2e2ef00dc4de5eca59d332	Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as unusual facies, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e8f1951ad140d97cbd68fb8d984258adbfc3d4f0	Individuals with this Marfanoid disorder lack the ocular findings of @DISEASE$ and often have dysmorphic features such as @PHENOTYPICFEATURE$, cleft palate, and contractures.	false
+52bcd16b03149ca475aeccd2b56b9d7eb98a0324	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and @DISEASE$, including @PHENOTYPICFEATURE$, bifid uvula, skeletal overgrowth, cervical spine instability and clubfoot deformity.	has_symptom
+b34fc0e7d847c2fb47734ec1c4a3b146a79965b8	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and @DISEASE$, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and @PHENOTYPICFEATURE$ deformity.	false
+911027201654808cd7a44d0447499c82f2019142	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including @DISEASE$, bifid uvula, skeletal @PHENOTYPICFEATURE$, cervical spine instability and clubfoot deformity.	false
+e762cd34839117810f3bce1d7256679caf934cf4	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and @DISEASE$, including cleft palate, bifid uvula, skeletal @PHENOTYPICFEATURE$, cervical spine instability and clubfoot deformity.	false
+258fc17b7582c7368a02857536421fdb35769d92	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including @DISEASE$, bifid uvula, skeletal overgrowth, cervical spine instability and @PHENOTYPICFEATURE$ deformity.	false
+4664c5cc63b03daf7a77aa0163912e64580c74e9	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, @DISEASE$, skeletal overgrowth, cervical spine instability and @PHENOTYPICFEATURE$ deformity.	false
+708ee81c5ec0f56019f5219197afba0dbfd83087	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, @DISEASE$, skeletal @PHENOTYPICFEATURE$, cervical spine instability and clubfoot deformity.	false
+a75501e7cad61da62e01ec4957d6a915dbed2a7f	@PHENOTYPICFEATURE$ and @DISEASE$; unexplained, gross unilateral, renal hematuria in Negroes, coincident with the blood sickling trait.	has_symptom
+b4733c031e1a6a2a82c7c457a5645b445025d32f	Hematuria and @DISEASE$; unexplained, gross unilateral, renal @PHENOTYPICFEATURE$ in Negroes, coincident with the blood sickling trait.	has_symptom
+fcb9652d90794a94b11a84a1c87da3f48999d012	@DISEASE$ (WRS) (OMIM 226980) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, @PHENOTYPICFEATURE$ or developmental delay, and hepatic and renal dysfunction as main clinical findings.	has_symptom
+800ad6c5e3399e1cd34e19db8d6e0f6dd4fe6666	Wolcott-Rallison syndrome (@DISEASE$) (OMIM 226980) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, @PHENOTYPICFEATURE$ or developmental delay, and hepatic and renal dysfunction as main clinical findings.	has_symptom
+1b7d487ecd5c42306e0d9d76c9618d5083f42c6a	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, @PHENOTYPICFEATURE$, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	has_symptom
+b33c37ed825633d1e2566fc7d68317a262316a4c	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other @PHENOTYPICFEATURE$).	false
+7e5547550eb8945b198f482ebdf1f23301ece4b9	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, @PHENOTYPICFEATURE$, @DISEASE$, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+703d24862447871f8eccd3e534afb07e29066d58	Wiedemann-Rautenstrauch (neonatal progeroid) @DISEASE$ (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other @PHENOTYPICFEATURE$).	false
+4a195353c55205da0667c6562272360835dbed98	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, @PHENOTYPICFEATURE$, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+fcb85a49837d3e59e0205438f9ed221ae837e5d1	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, @DISEASE$, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other @PHENOTYPICFEATURE$).	false
+a45e4eced19b45bdff51a528a33f4b3b07e7c1b8	Wiedemann-Rautenstrauch (neonatal progeroid) @DISEASE$ (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, @PHENOTYPICFEATURE$, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+b09f9eb0c25c670d2c6a8dc089ff81c7bbb0ee8a	Wiedemann-Rautenstrauch (neonatal progeroid) @DISEASE$ (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (@PHENOTYPICFEATURE$, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+331f1087199cb9334193356c31a1bc007f134eee	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (@PHENOTYPICFEATURE$, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+c6078a8e98796486abf5e5099e575208e019c881	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (@PHENOTYPICFEATURE$, macrocephaly, @DISEASE$, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+a045f8ed1ad1bd85bb15da817f97b87fa9f8ffea	Many of the patients with @DISEASE$ have been reported to have developmental delay, @PHENOTYPICFEATURE$, and learning difficulties; in contrast, none of our patients showed abnormal development at age up to 30 months.	has_symptom
+f86d33b24d7e805fe1705294716977aeb0016536	Wolcott-Rallison syndrome (@DISEASE$) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, @PHENOTYPICFEATURE$ or developmental delay, and hepatic and renal dysfunction as main clinical findings.	has_symptom
+18c484cc290ae4dd8a7fb973bf64475c60dfe099	@DISEASE$ (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, @PHENOTYPICFEATURE$ or developmental delay, and hepatic and renal dysfunction as main clinical findings.	has_symptom
+579fe89033383cda8445acb02f2e1a02bbc43cce	Among them, several conditions also include a @PHENOTYPICFEATURE$ (MR) syndrome, namely @DISEASE$, Dyggve-Melchior-Clausen syndrome (DMC) and lysosomal storage disorders.	has_symptom
+27b24b2c83e12bec5a6f8db60b107d236118a195	Rickets, hypocalcemia, @PHENOTYPICFEATURE$, and @DISEASE$ were found in a low-birth-weight premature infant.	has_symptom
+6a568327db8951375f4d58d72dc8c3890697e134	Rickets, @PHENOTYPICFEATURE$, @DISEASE$, and hyperparathyroidism were found in a low-birth-weight premature infant.	false
+a31264c3e78223f022db7798776b65f58a92479e	Rickets, @PHENOTYPICFEATURE$, hypophosphatemia, and @DISEASE$ were found in a low-birth-weight premature infant.	false
+1845753522b07293e99d593204c6a07b04ff0459	Most cases are idiopathic, but @DISEASE$, hemochromatosis, hypomagnesemia and @PHENOTYPICFEATURE$ can promote or cause chondrocalcinosis.	has_symptom
+716261c2e7ff01a60184574950d0faec766594f6	Most cases are idiopathic, but hyperparathyroidism, hemochromatosis, @PHENOTYPICFEATURE$ and @DISEASE$ can promote or cause chondrocalcinosis.	false
+1f2af1dfe42a2a29c397c8a9890af6916a73c6e2	Most cases are idiopathic, but @DISEASE$, hemochromatosis, @PHENOTYPICFEATURE$ and hypophosphatemia can promote or cause chondrocalcinosis.	false
+6fea286a1d90ccdb491c2421dcdcbe129aa58978	Hungry Bone Syndrome refers to the severe and prolonged hypocalcemia and @PHENOTYPICFEATURE$, following parathyroidectomy in patients with @DISEASE$.	has_symptom
+0c474d2873373878e7c6f6709e26a7b79a00ee6b	Hungry Bone Syndrome refers to the severe and prolonged @PHENOTYPICFEATURE$ and @DISEASE$, following parathyroidectomy in patients with hyperparathyroidism.	false
+873a2d3eb3f244f8146add43fc04cffb35c80f3d	Hungry Bone Syndrome refers to the severe and prolonged @PHENOTYPICFEATURE$ and hypophosphatemia, following parathyroidectomy in patients with @DISEASE$.	false
+2de3d1fce546329eeb7819f1f8a16cdcc75e4413	The patient showed signs of @DISEASE$: hypercalcemia, and @PHENOTYPICFEATURE$.	has_symptom
+05776e3ecd717b4f12cde1c269b333d16ceffa75	The patient showed signs of @DISEASE$: @PHENOTYPICFEATURE$, and hypophosphatemia.	false
+8663f36baaf75983af166add6a3a5f35c658f704	The patient showed signs of hyperparathyroidism: @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3e101e3017a008c9fd2e86f06ebde58004f85186	@PHENOTYPICFEATURE$ and/or @DISEASE$, which still remained after transplantation, may possibly stimulate 1 alpha-hydroxylase in the transplanted kidney.	has_symptom
+13ab2cd8e5b49441783080b8d972a62e5c2aac2a	He had hypercalcaemia, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+5112fecdbac401aba97cb612b8429fd745ba21a0	He had @PHENOTYPICFEATURE$, @DISEASE$, and hyperparathyroidism.	false
+8458fa7b498ec2b0606f162558fd5af5c1246407	He had @PHENOTYPICFEATURE$, hypophosphataemia, and @DISEASE$.	false
+638a1a18c2d7d60c2daaad9f7dc897c70a0bb641	We present a patient with severe headache, who was diagnosed with hypertension due to @DISEASE$. Hyperparathyroidism should be kept in mind in children with hypertension accompanied by hypercalcemia and @PHENOTYPICFEATURE$.	has_symptom
+760048c1e82f04e29c6f3f85bfc307498c064ae5	We present a patient with severe headache, who was diagnosed with hypertension due to hyperparathyroidism. @DISEASE$ should be kept in mind in children with hypertension accompanied by hypercalcemia and @PHENOTYPICFEATURE$.	has_symptom
+4e22bb005c1cb740bff7f20d3e9572a773759462	We present a patient with severe headache, who was diagnosed with hypertension due to hyperparathyroidism. @DISEASE$ should be kept in mind in children with hypertension accompanied by @PHENOTYPICFEATURE$ and hypophosphatemia.	false
+dcabbb26e4cdd6082b13f0bc8a15e15d640915de	We present a patient with severe headache, who was diagnosed with hypertension due to hyperparathyroidism. Hyperparathyroidism should be kept in mind in children with hypertension accompanied by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dc2236beb09a4c0044b64091a0d4c1f676e7da34	We present a patient with severe headache, who was diagnosed with hypertension due to @DISEASE$. Hyperparathyroidism should be kept in mind in children with hypertension accompanied by @PHENOTYPICFEATURE$ and hypophosphatemia.	false
+ff973990dacbf5d353e1fd632012775392485c89	Blood examination revealed increased parathyroid hormone, hypercalcemia and @PHENOTYPICFEATURE$, suggestive of @DISEASE$.	has_symptom
+d3ff331afc5997b53b58950c7e07bcb8baca8a68	Blood examination revealed increased parathyroid hormone, @PHENOTYPICFEATURE$ and @DISEASE$, suggestive of hyperparathyroidism.	false
+5813370ef38d76120d337cf3786a3885b315f6f3	Blood examination revealed increased parathyroid hormone, @PHENOTYPICFEATURE$ and hypophosphatemia, suggestive of @DISEASE$.	false
+bf40facaa9c0b2012e20a4b10aaa068262311843	Bone disease, @PHENOTYPICFEATURE$ and @DISEASE$ after renal transplantation.	has_symptom
+b3cc7c744921d57a1f36baa9197810b01030b347	@PHENOTYPICFEATURE$ and @DISEASE$ in a case of Bartter's syndrome.	has_symptom
+beb395a7d0c0e21e4c5da7b5483bd48200766b09	A 7-year-old girl with @DISEASE$ who had no neurologic deficits in infancy suddenly developed ophthalmoplegia, @PHENOTYPICFEATURE$, and respiratory arrest.	has_symptom
+567eb200976724716d9783bc388f270f45d13a92	Two patients (a 50-year-old and a 35-year-old men) with focal @DISEASE$, manifesting @PHENOTYPICFEATURE$ and external ophthalmoplegia of 13 and 6 years' duration, respectively, were reported.	has_symptom
+7065a8464e870f7cb8570469df2c70296213b84d	The unusual association of severe @PHENOTYPICFEATURE$ with symptoms of leptomeningeal amyloid indicates that leptomeningeal amyloidosis should be considered part of the syndrome of TTR-related @DISEASE$.	has_symptom
+cdf61809a8f600556c4fa4a2b34408508bceda90	Results support the view that @DISEASE$ is a @PHENOTYPICFEATURE$ with predominantly axonal damage, which affects first the distal segments of the sensory fibres and then the motor fibres.	has_symptom
+bfe077277edd7a9bbe85e2a4f6e1c52a4aa0d918	Although there are approximately 100 known TTR variants associated with @PHENOTYPICFEATURE$, in Israel only one patient with @DISEASE$ (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.	has_symptom
+c41a40b3c2ea4c9f7899a1d3308a9f7734101d99	Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type @DISEASE$ [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent @PHENOTYPICFEATURE$.	has_symptom
+62b1042a4686a1b42507abe1a71f9e70f5cd2cfa	@DISEASE$ (ATTR), caused by mutant transthyretin deposition, is mainly characterized by @PHENOTYPICFEATURE$, autonomic dysfunction, and cardiomyopathy.	has_symptom
+8e5d7fa796cef934dbf2d1235fe7e84bed8a101a	Infants with @DISEASE$ may present early for ophthalmologic examination because of threatened @PHENOTYPICFEATURE$, primarily related to optic nerve compression.	has_symptom
+f31c69579aa1707b2e0cfdba097b0f493a83eeba	Malignant infantile @DISEASE$ should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or @PHENOTYPICFEATURE$ develops.	has_symptom
+3fad83d3dc611627d822e1b9e8218ca46b73a2b4	Audiogenic @PHENOTYPICFEATURE$ susceptibility in transgenic mice with @DISEASE$.	has_symptom
+2898fc8f904d0a7a8e8eb1cc0162f41f64e76127	@PHENOTYPICFEATURE$ are a common co-occurring condition in those with fragile X syndrome (@DISEASE$), and in those with idiopathic autism spectrum disorder (ASD).	has_symptom
+0b7729d8808e25d38e089f840194afa61bd98ed0	@PHENOTYPICFEATURE$ are a common co-occurring condition in those with @DISEASE$ (FXS), and in those with idiopathic autism spectrum disorder (ASD).	has_symptom
+9776b7809c35040a2a373f38c38ba9fb08029c99	In Fragile X Syndrome (@DISEASE$), it has been reported that altered synchronization may underlie hyperexcitability, cognitive dysfunction and provide a link to the increased incidence of @PHENOTYPICFEATURE$.	has_symptom
+03069110c6994a5b0285177ce96eed0bb3f22d37	In @DISEASE$ (FXS), it has been reported that altered synchronization may underlie hyperexcitability, cognitive dysfunction and provide a link to the increased incidence of @PHENOTYPICFEATURE$.	has_symptom
+1c4fab01c4c86170de09e9af2daf98b0bdc0f62c	A well-known and commonly used phenotype in pre-clinical studies of @DISEASE$ is audiogenic @PHENOTYPICFEATURE$.	has_symptom
+4751cbab8bd0ce45e5888db53f72794e7811576b	@PHENOTYPICFEATURE$ are also associated with ASD in those with @DISEASE$.	has_symptom
+c2d056b3b7ff081179b3d5c390eb78761ad66e7c	@PHENOTYPICFEATURE$ in @DISEASE$: characteristics and comorbid diagnoses.	has_symptom
+88354e43e291d984c8bf3091fd72a6c46a65b6bb	EEG abnormalities and @PHENOTYPICFEATURE$ in genetically diagnosed @DISEASE$.	has_symptom
+0e1355d0b22d485406d48a26a2647c128df5e0e4	@PHENOTYPICFEATURE$ and epileptiform EEG abnormalities in @DISEASE$.	has_symptom
+e58ba63b269eb71d857ceeec905728f7f311ddc6	To evaluate seizure frequency and type in a Chicago @DISEASE$ cohort, data regarding potential @PHENOTYPICFEATURE$ history were reviewed for 136 individuals with FXS (age range 2 to 51 years: 113 males and 23 females).	has_symptom
+da26e6792a9fae5fa169f070565be276d7c046b4	To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential @PHENOTYPICFEATURE$ history were reviewed for 136 individuals with @DISEASE$ (age range 2 to 51 years: 113 males and 23 females).	has_symptom
+c5d286f7a478023d397122edb43cc4f397e64c3f	To evaluate @PHENOTYPICFEATURE$ frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 individuals with @DISEASE$ (age range 2 to 51 years: 113 males and 23 females).	has_symptom
+29c11de52c494173838645c67e8d92a979498b6c	To evaluate @PHENOTYPICFEATURE$ frequency and type in a Chicago @DISEASE$ cohort, data regarding potential seizure history were reviewed for 136 individuals with FXS (age range 2 to 51 years: 113 males and 23 females).	has_symptom
+857484fdbcec41a2440a6fb970822651f271e6cb	The occurrence of @PHENOTYPICFEATURE$ in patients with @DISEASE$ (Fra-X) is reported.	has_symptom
+293a598d714884e2b89b3712a1bd2ea1d5b5d713	We herein report a case of late onset of severe @DISEASE$ 4 months after cadaveric liver transplantation for hepatocellular carcinoma in a 54-year-old woman, which was characterized by refractory diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+d50e2e0665208f5c1bac9706428415bdc881cdbb	Intestinal graft-versus-host disease (@DISEASE$) causes anorexia, vomiting, @PHENOTYPICFEATURE$, and diarrhea.	has_symptom
+e152142cbf0d3d63b0977b2d10f6f448cb3e0625	Intestinal graft-versus-host disease (GVHD) causes anorexia, @PHENOTYPICFEATURE$, abdominal pain, and @DISEASE$.	false
+c7ac6b99baf7186a86d3f5d9f4a4dd1ef703296b	Intestinal graft-versus-host disease (GVHD) causes anorexia, @PHENOTYPICFEATURE$, @DISEASE$, and diarrhea.	false
+9914d9fa5f38bb82239e0d59169a1752d0afa332	Intestinal graft-versus-host disease (@DISEASE$) causes anorexia, @PHENOTYPICFEATURE$, abdominal pain, and diarrhea.	false
+c752e12407afa8013eb295491ab6184422496ebc	No @PHENOTYPICFEATURE$ nor @DISEASE$ was detected.	has_symptom
+6f94eb9fba160ca0ca51b5fa3941affab8156bf9	Familial @DISEASE$ (HPT), characterized by hypercalcemia and @PHENOTYPICFEATURE$, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	has_symptom
+c8f47ac6f3f24b3036c9962c296a46b06dfa5641	Familial @DISEASE$ (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	false
+930870eab71431ae39f3f87ce239600ff16b0e54	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and @DISEASE$, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia.	false
+be59cb27bd8d6a22220e53055e4f44f4ea9f3fac	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and @DISEASE$ (FHH) are the most common causes of hereditary hypercalcemia.	false
+4cf9ed075c8caf6a8ac1cdb272d78204ba033a1e	Familial hyperparathyroidism (HPT), characterized by @PHENOTYPICFEATURE$ and hypercalciuria, and familial benign hypocalciuric hypercalcemia (FHH) are the most common causes of hereditary @DISEASE$.	false
+3762bcf43ab1c750d0668a8973efbb573e6d200b	There are two alternative mechanisms that might be responsible for idiopathic hypercalciuria in recurrent stone formers: increased intestinal absorption of calcium with parathyroid suppression and overflow hypercalciuria (primary intestinal hyperabsorption) or renal calcium leak with compensatory @DISEASE$ and intestinal hyperabsorption (primary renal-tubular @PHENOTYPICFEATURE$).	has_symptom
+fe59b82148afc5df77a2859cb1ecf99117732c03	The available data suggest that many patients with MSK are asymptomatic and that the risk of stone formation is increased by an associated metabolic abnormality such as @PHENOTYPICFEATURE$ or @DISEASE$.	has_symptom
+78b9927d8343f790ea4da6dcfefb0ae6515b767e	The available data suggest that many patients with @DISEASE$ are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as hypercalciuria or hyperparathyroidism.	false
+108762972ed5f70d170e05e4d916689bf246cbdd	The available data suggest that many patients with MSK are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as hypercalciuria or @DISEASE$.	false
+a6b6a0d946e531781d6cde132ea3020102b7775c	The available data suggest that many patients with MSK are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as @DISEASE$ or hyperparathyroidism.	false
+78bd8c54d3edb49e37f39f50617af0f729c256e1	Treatment for X-linked hypophosphatemia (XLH; vitamin D metabolites and phosphate salts) may result in hypercalcemia, @PHENOTYPICFEATURE$, nephrocalcinosis, and @DISEASE$.	has_symptom
+3fec4d197617c54044df8ef4ae8d70ea272831a1	Diagnostic categories included absorptive hypercalciuria (33 patients), renal leak @PHENOTYPICFEATURE$ (20 patients), hypomagnesiumuria (27 patients), hyperuricemia and hyperuricuria (16 patients), hyperoxaluria (15 patients), normal stone-former (4 patients), renal tubular acidosis (2 patients) and suspicion of @DISEASE$ (7 patients).	has_symptom
+29a5aed06b293fe0920b83c4eab7eb1b6f6c594c	Diagnostic categories included absorptive hypercalciuria (33 patients), renal leak @DISEASE$ (20 patients), hypomagnesiumuria (27 patients), @PHENOTYPICFEATURE$ and hyperuricuria (16 patients), hyperoxaluria (15 patients), normal stone-former (4 patients), renal tubular acidosis (2 patients) and suspicion of hyperparathyroidism (7 patients).	false
+64273376396d76fefc03ba7563e67bb0f9424268	Diagnostic categories included absorptive hypercalciuria (33 patients), renal leak hypercalciuria (20 patients), hypomagnesiumuria (27 patients), @PHENOTYPICFEATURE$ and hyperuricuria (16 patients), hyperoxaluria (15 patients), normal stone-former (4 patients), renal tubular acidosis (2 patients) and suspicion of @DISEASE$ (7 patients).	false
+3bc1aeb373ae73418bb1d574f8ee8706f217e2cb	Diagnostic categories included absorptive hypercalciuria (33 patients), renal leak hypercalciuria (20 patients), hypomagnesiumuria (27 patients), @PHENOTYPICFEATURE$ and hyperuricuria (16 patients), hyperoxaluria (15 patients), normal stone-former (4 patients), @DISEASE$ (2 patients) and suspicion of hyperparathyroidism (7 patients).	false
+efc89b6e53bf31953f3d60c52a437b9de2c646c3	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and nephrolithiasis.	has_symptom
+3cf764a7965aa1e7c3f509a81b2a573f6d2f3637	Urinary lithiasis, @PHENOTYPICFEATURE$ and @DISEASE$ are strictly related diseases, and the urologist diagnoses primary hyperparathyroidism (PHP) in the majority of cases.	has_symptom
+01a05265d348405cdce2b941bca809696ae6e939	At follow-up, 3 out of 14 cases revealed renal @PHENOTYPICFEATURE$, which could have been the cause of @DISEASE$, as proposed by Reiss and associates previously.	has_symptom
+260e2795e295d66935e5c546050db8dfdfd7e128	However a question remains whether patients with @DISEASE$ who take Cinacalcet may be at increased risk of renal calcium deposits due to @PHENOTYPICFEATURE$ and subsequent renal transplant dysfunction.	has_symptom
+3fb2544f35da31cbdbdb914daba616d6274a70ed	@DISEASE$ is a rare autosomal recessive disorder with dwarfism, @PHENOTYPICFEATURE$, and otherwise clinically heterogeneous features.	has_symptom
+34ef93b6bcda0dfe390b51d9946b622956247b68	@DISEASE$ (CS) is an autosomal recessive disorder with dwarfism, @PHENOTYPICFEATURE$, sun sensitivity and a variety of other features.	has_symptom
+c19b95150889a34d2e4e24cebbdc40fcd2b07219	@DISEASE$ is a disease of childhood characterized by @PHENOTYPICFEATURE$ and premature aging.	has_symptom
+1a2b93114517c445ebe672ffcf8e7c98918eb4e3	@DISEASE$ (CS) is a rare genetic disease characterized by severe growth, @PHENOTYPICFEATURE$ and pronounced cachexia.	has_symptom
+b2e7bab3026b3bd1592ed9c62438b03bcea109cd	@DISEASE$ is a rare autosomal recessive progressive neurological disorder characterized by a nanism, a major cachexy, a characteristic facial appearance of premature ageing, a sun-sensitivity, a retinopathy, and a @PHENOTYPICFEATURE$.	has_symptom
+71862e77fd419bde5f3c5dd750cb0bb230d80140	@DISEASE$, one of the progeroid syndromes, was suspected because of @PHENOTYPICFEATURE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, short stature, and cachectic habitus.	has_symptom
+8c27a29de5c3baaf871904e3f042b1dc2f3a49e7	@DISEASE$, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, @PHENOTYPICFEATURE$, and cachectic habitus.	false
+de09837d6df48f1bc15b4e92a6a2b78d25a5fb70	Cockayne syndrome, one of the progeroid syndromes, was suspected because of @DISEASE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, @PHENOTYPICFEATURE$, and cachectic habitus.	false
+f0ee1936c945643c5a33f0ff0d80304c251e97f9	@DISEASE$, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @PHENOTYPICFEATURE$, senile face, short stature, and cachectic habitus.	false
+06c2b5ff1808f35bebdda839663b81b8fc79a560	Cockayne syndrome, one of the progeroid syndromes, was suspected because of @DISEASE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @PHENOTYPICFEATURE$, senile face, short stature, and cachectic habitus.	false
+4d5bd0cfc34a101958c9de5b602bcf26065952f4	@DISEASE$ is a rare autosomal recessive condition producing a dwarfed, @PHENOTYPICFEATURE$ infant or child.	has_symptom
+42abbdc1509a7477d3da1d4b5c8b4580cb007168	@DISEASE$ (CS) is a rare genetic disorder characterized by small stature, @PHENOTYPICFEATURE$, and accelerated pathologic aging.	has_symptom
+a101f8140a0a9aa4e223eb07a908a437f4651ba2	@DISEASE$ is an autosomal recessive multisystem disorder characterized by @PHENOTYPICFEATURE$, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	has_symptom
+9439a491170cc5e64a0cd963fd0f5a6ae7f38fcc	@DISEASE$ is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	false
+9daca5f37c165072055d4c46043b3a9b1469d53c	@DISEASE$ is an autosomal recessive multisystem disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+11dfc432344a2eadf4c80880a97e69349be0e2f7	Cockayne syndrome is an autosomal recessive @DISEASE$ characterized by intellectual disability, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+11a8117e163cea5271c89fe06874052be0577f50	Cockayne syndrome is an autosomal recessive @DISEASE$ characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	false
+3bba495681556515d306bd0dfba02700c46427ff	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.	false
+379b928d01dc383b42536e2d124f10ace25c9368	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by @DISEASE$, microcephaly, severe growth failure, sensory impairment, @PHENOTYPICFEATURE$, and cutaneous sensitivity.	false
+91b9d29a2c9289a00f372a51a0288d7af0f0e34c	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, @PHENOTYPICFEATURE$ and otherwise clinically heterogeneous features which commonly include cutaneous photosensitivity.	has_symptom
+98b25ce0857cdd4e42c1cfa16c37e882ffb10e1f	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, @DISEASE$ and otherwise clinically heterogeneous features which commonly include @PHENOTYPICFEATURE$.	false
+976f42f30a1fd6be0b902e1adcc0021ba8587835	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by postnatal growth failure, mental retardation and otherwise clinically heterogeneous features which commonly include @PHENOTYPICFEATURE$.	false
+72f8f2f32221571bb97f9a39f040e253dc4580a1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	has_symptom
+9a6b0b2fddf7f29d1793801d96130162e5a0e977	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @DISEASE$, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+b52954187b25cf76ee50d7d0bcbfa83d16687820	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+3669b77102181282d25839be3d059acb7a2d42c6	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+bea7b44ac46ef98399bae02e424d9f26d6b01cf1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+92a795e50fd5029b21ddb537de714d1b05319588	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to @DISEASE$ (MH).	false
+91944242aa25e68fb75fdc47b1625f382cef5a3e	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+e6a563afc14de4bd7e1f0adf0cb2b6fbfe2976ee	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+feae4b88ebfaba290fbd0131d69b206f157cd1bf	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+0145c3c198a35ead9c7890e21064cb91b2876566	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+698d432ccbe0273f6e108304ce9db7facaf9e781	The routine histology shows variable amount of @PHENOTYPICFEATURE$, acanthosis and papillomatosis and rarely @DISEASE$.	has_symptom
+8b0b4e94e5a101edbfb541c16bfc15ae7a58c481	EI is characterized by @PHENOTYPICFEATURE$ and vacuolar degeneration of the upper epidermis, also known as @DISEASE$, hence the name of the disease.	has_symptom
+99d04daf450f6df76a1df8e571b768b63fee5708	Histology showed compact @PHENOTYPICFEATURE$, prominent irregular acanthosis, and extensive @DISEASE$, suggestive of V?rner's palmoplantar keratoderma.	has_symptom
+3e0c22134d842283cded17881f343257ffbbe957	We investigated the molecular genetics of @DISEASE$ (EHK), a dominant disorder characterized by epidermal blistering, @PHENOTYPICFEATURE$, vacuolar degeneration and clumping of keratin filaments.	has_symptom
+e1f061a2804e152593227e3d45750cf662fd19d1	@DISEASE$ is an autosomal dominant ichthyosis characterized by blistering, especially at birth and during childhood, and @PHENOTYPICFEATURE$.	has_symptom
+7733bda29b280d2138c66eedabba2155d2220c03	@DISEASE$ (BCIE) is an autosomally dominant inherited disorder characterized by erythematous, erosive, and bullous skin lesions over the entire body at birth and abnormal @PHENOTYPICFEATURE$ on the palmoplantar sufaces as the patient grows older.	has_symptom
+139eda1f002c8b987ff35bf7fd6ba31892ee17fc	@DISEASE$ (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic @PHENOTYPICFEATURE$ and palmoplantar keratoderma.	has_symptom
+e3b5049f816213912a50972a0b96293a4b2f6dd9	@DISEASE$ (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic hyperkeratosis and @PHENOTYPICFEATURE$.	false
+76bf98631fefa166962149e8277fb4ad80f03246	Epidermolytic hyperkeratosis (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+593ea69b14a869d2be76bf00735f17ba885b60e3	@DISEASE$ (EHK) is a congenital, autosomal dominant disorder of cornification characterized by @PHENOTYPICFEATURE$ and blister formation.	has_symptom
+321f761f341f83209b9d132f6f93418680223240	@DISEASE$ (EHK) is an autosomal dominantly inherited genodermatosis manifesting with blistering and erythroderma in infancy and widespread @PHENOTYPICFEATURE$ of the skin, particularly over flexural areas, in adulthood.	has_symptom
+1c1fbbb66350de557d1c4a4c08c0cbc2dd1479f3	Of the seven LEN, five showed @PHENOTYPICFEATURE$, papillomatosis, and varying degrees of acanthosis; two had features of @DISEASE$.	has_symptom
+ea3e976e7a14bdf03c749a21f7f7c48b0d01c78a	Although the function of tbx3 in these neurons is unknown, a review of the literature strongly suggests that these neuronal populations may be abnormal in @DISEASE$ patients with tbx3 mutations, explaining previously overlooked phenotypes in this syndrome, such as @PHENOTYPICFEATURE$, sexual dysfunction and possibly sleep abnormalities.	has_symptom
+78bfd3e089869a23cc2d1719a51c3a145d413669	We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the @DISEASE$, including ulnar ray defects, @PHENOTYPICFEATURE$, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines.	has_symptom
+77c17a93f22409ef3d8e10a3640fc155d9081aaa	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (@DISEASE$ - @PHENOTYPICFEATURE$, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).	has_symptom
+c40dc0e85d139879c15a8a1e7aab39411bbc63f8	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, @PHENOTYPICFEATURE$, Cardiac defects, Tracheoesophageal fistula and/or @DISEASE$, Renal & Radial anomalies and Limb defects).	false
+f1b370b2fffb348f863529882053f730bb637dfa	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (@DISEASE$ - Vertebral anomalies, @PHENOTYPICFEATURE$, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).	false
+1f699d45c26edb32aed2dbc3cb847ba4fa8c34a9	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - @DISEASE$, @PHENOTYPICFEATURE$, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).	false
+cb9c23fdbc5dd1344ea23d8d670a56400a4b44cf	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, @PHENOTYPICFEATURE$, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & @DISEASE$ anomalies and Limb defects).	false
+146d17e58dd2e6f6bcf3478b45bb36af7c897955	These new data suggest that @PHENOTYPICFEATURE$ in Aldh5a1(-/-) mice are more frequent during a specific time of day and will provide useful information to clinicians for the treatment of seizures associated with human @DISEASE$.	has_symptom
+990bbb1f26a928dad3a3be8e2fd9dd1d1a0a167a	These new data suggest that generalized tonic-clonic seizures in Aldh5a1(-/-) mice are more frequent during a specific time of day and will provide useful information to clinicians for the treatment of @PHENOTYPICFEATURE$ associated with human @DISEASE$.	false
+c3c3554b6f97cc28042925fdb384cb1b27e9ffa5	These new data suggest that @DISEASE$ in Aldh5a1(-/-) mice are more frequent during a specific time of day and will provide useful information to clinicians for the treatment of @PHENOTYPICFEATURE$ associated with human SSADH deficiency.	false
+d659cf0eddaf486ec2196b877dbfecd7272fc841	Hence, SSADH(-/-) may be used to investigate the molecular mechanisms that underpin the pathogenesis of absence and @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+4ca7e37e69ed8cd940474e15a2869a919e827290	Circadian distribution of @PHENOTYPICFEATURE$ associated with murine @DISEASE$, a disorder of GABA metabolism.	has_symptom
+9c983288280e593f88d28bf61ab825a835354511	Specifically, the prevalence and latency of NMDA-induced continuous wild running-like behaviors (CWR), flexion seizures (FS), wild running @PHENOTYPICFEATURE$ (@DISEASE$), GTCS, and tonic seizures (TS) were recorded and analyzed.	has_symptom
+da6d62f11bc2ceeab8f590cbfe5a74d89dbb26b3	Specifically, the prevalence and latency of NMDA-induced continuous wild running-like behaviors (CWR), flexion @PHENOTYPICFEATURE$ (FS), wild running seizures (@DISEASE$), GTCS, and tonic seizures (TS) were recorded and analyzed.	has_symptom
+90d57b50d5da933441c9f0f36f520f94c020b029	Withdrawal seizure prone (WSP) and withdrawal @PHENOTYPICFEATURE$ resistant (@DISEASE$) mice were genetically selected to express severe or mild handling-induced convulsions (HIC), respectively, after cessation of chronic ethanol (EtOH) vapor inhalation.	has_symptom
+476d40bb2d21629999bcec7a134c02baf7058741	Withdrawal @PHENOTYPICFEATURE$ prone (WSP) and withdrawal seizure resistant (@DISEASE$) mice were genetically selected to express severe or mild handling-induced convulsions (HIC), respectively, after cessation of chronic ethanol (EtOH) vapor inhalation.	has_symptom
+353923bcce2baa2f7b508843fcc4a44a7a0d0421	The patient has unilateral @DISEASE$ (CLP) status postrepair, an unrepaired alveolar cleft, @PHENOTYPICFEATURE$, global developmental delay, macrocephaly, mild cerebral palsy, and a patent ductus arteriosus status postrepair.	has_symptom
+d3dba209e1ec8da6ffab5c913433a0549e48bcca	The patient has unilateral cleft lip and palate (CLP) status postrepair, an unrepaired alveolar cleft, @DISEASE$, global developmental delay, @PHENOTYPICFEATURE$, mild cerebral palsy, and a patent ductus arteriosus status postrepair.	false
+51d12da2ae65f62fa6d71db70e92b31b59f5ee1c	The patient has unilateral @DISEASE$ (CLP) status postrepair, an unrepaired alveolar cleft, speech delay, global developmental delay, @PHENOTYPICFEATURE$, mild cerebral palsy, and a patent ductus arteriosus status postrepair.	false
+ca94118df74f0cd72d0e3fcde4b7bdc45cd2511c	She presented with moderate psychomotor retardation, @PHENOTYPICFEATURE$, behavioral problems, and bilateral @DISEASE$, a previously unreported manifestation.	has_symptom
+ad8191568368ea2b74fe04cae6443b6818a84dad	Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), Woolly hair, @PHENOTYPICFEATURE$ with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	has_symptom
+2d752c8e9a106b5291cd185ca7bd4f860a2781d5	Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and @PHENOTYPICFEATURE$ nevus.	has_symptom
+620fbb2d6ef8aa064a6bf018508d43405577d269	Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), @PHENOTYPICFEATURE$, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	has_symptom
+db5d8c1aa8b95189a48ce64591a560fb9c821371	Congenital @PHENOTYPICFEATURE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), Woolly hair, @DISEASE$ with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+66736689261e86281aa334f7635a725522d5fe63	Congenital @PHENOTYPICFEATURE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and @DISEASE$ nevus.	false
+65ee32b5ea73c818eef3ad9ae812c02e53fa49bc	Congenital @PHENOTYPICFEATURE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), @DISEASE$, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+ae551b4f47a8901fb78a97d31bcddcff2eafe6db	Congenital @PHENOTYPICFEATURE$ shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, @DISEASE$ (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.	false
+ab5805afc97cdca8f490a6adcf8d8c087e98eba6	Poor nutrition (malnutrition and at risk of malnutrition) was associated with some of the @DISEASE$ including the constipation, @PHENOTYPICFEATURE$, loss of interest, inability to concentrate and sadness, and high scores in PSQI, GDS, and HAMA.	has_symptom
+8d4c3bb13d3c9ffb244703165c5fc819bb526303	Slit-lamp examination of a further ten untreated @DISEASE$ patients and 13 PKU adults who had been treated in childhood revealed only small @PHENOTYPICFEATURE$ (in 40%) of a type found in 72.7% of a control group.	has_symptom
+37a2e58391d89cb8742783a8c706987c969480d6	Slit-lamp examination of a further ten untreated PKU patients and 13 @DISEASE$ adults who had been treated in childhood revealed only small @PHENOTYPICFEATURE$ (in 40%) of a type found in 72.7% of a control group.	has_symptom
+da4c0deb3ccf5a8d108fcbdb7df8fdee7c5931d4	Only two of the @DISEASE$ patients with @PHENOTYPICFEATURE$ could be examined by slit-lamp biomicroscopy and in both the findings suggested that the prolonged use of phenothiazines may have played a role.	has_symptom
+a75b7dc413307f14e7d407807426a0d5332d9ad9	@PHENOTYPICFEATURE$), appear to be a more suitable model for the human disease of @DISEASE$.	has_symptom
+e8cd7dbe6c9d737bcefc783112c6e367ae7c35a1	@DISEASE$ does not cause @PHENOTYPICFEATURE$.	has_symptom
+22095c549e39eccbb03916822f01a32d1372e91c	There are only four previous reports of @PHENOTYPICFEATURE$ in untreated @DISEASE$ (PKU) patients.	has_symptom
+3a77f826572ae06e8062c935d90d941e0eeeb036	There are only four previous reports of @PHENOTYPICFEATURE$ in untreated classical phenylketonuria (@DISEASE$) patients.	has_symptom
+1c372593ed4f61ae58004996f89e94785965802d	The study provides no support for claims that @DISEASE$ can cause @PHENOTYPICFEATURE$.	has_symptom
+bb823ebdaca22c2108c2cb80d0c41ae10186ec67	Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or @PHENOTYPICFEATURE$/developmental delays (MR/DD) and macrocephaly that do not have features of Cowden or @DISEASE$.	has_symptom
+afb8a557fcbd408360095dba2e3f24a215651481	Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or mental retardation/developmental delays (MR/DD) and @PHENOTYPICFEATURE$ that do not have features of Cowden or @DISEASE$.	false
+785c419ac03ac562c29327c8f345bc01fc6cbdf6	Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with ASD or @DISEASE$/developmental delays (MR/DD) and @PHENOTYPICFEATURE$ that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome.	false
+8fe2a69d770b0a3a8c0327d4274143e5e0ccddcb	Previous studies have demonstrated PTEN mutations in a sizable proportion of individuals with @DISEASE$ or mental retardation/developmental delays (MR/DD) and @PHENOTYPICFEATURE$ that do not have features of Cowden or Bannayan-Riley-Ruvalcaba syndrome.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+6acbd9b369e1b6af464d2f4e6ca47a92cfcdaee3	@DISEASE$ is a rare disease, which is characterized by macrocephaly, benign hamartomas, lipomas, haemangiomas, pigmented maculae, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+8e3c09f2ab0b9f123de19981cd31e988d6ccfd15	@DISEASE$ is a rare disease, which is characterized by @PHENOTYPICFEATURE$, benign hamartomas, lipomas, haemangiomas, pigmented maculae, developmental delay and mental retardation.	false
+b46f98f262858e8f10b3c9cd90b1ad9f34b17b6a	Bannayan-Riley-Ruvalcaba syndrome is a rare disease, which is characterized by @PHENOTYPICFEATURE$, benign hamartomas, lipomas, haemangiomas, pigmented maculae, developmental delay and @DISEASE$.	false
+43da930e21cdaac1602b13b45f2815288dec3bd7	@DISEASE$ (BRRS) is characterised by macrocephaly, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+05760877d5c0e969d4edc39ada70baa8b71df856	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is characterised by macrocephaly, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+23ab5d2ebd9b3a9ae4a8d503282b5770bfc9e2e3	@DISEASE$ (BRRS) is characterised by @PHENOTYPICFEATURE$, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and mental retardation.	false
+6a99a4e053c9ab04190eed96f29cc5beeac6c909	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and mental retardation.	false
+8ac71e0cddcdf67652106e295f3a4a84d957e725	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is characterised by @PHENOTYPICFEATURE$, intestinal hamartomatous polyps, lipomas, pigmented maculae of the glans penis, developmental delay and @DISEASE$.	false
+a446cde50b8dd7fb42f7fab138a4e877ba426d5d	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked @PHENOTYPICFEATURE$), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	has_symptom
+1f686c5e5f71df9c18621068d5df087ca8085fb1	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+8761a7376ed52eae17c8f1a9838eb49697d0c2cc	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, @DISEASE$, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+3e55566c483d5eaf875ed9245c9231639315e559	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+68201ee1ca4e3bb736e512bc03788fc760df10d9	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked @DISEASE$), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+b1b83b2df6b194771d91a1c1abc7d1d57aa0e9fd	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., @DISEASE$, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+dfa6a51ef94dd41c0d0c6da25748c45fa4df3b8d	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, @DISEASE$, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+ce315a20bc1fb58fbac334e1b20f08647bdb140a	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+b8a81710e807a9af2480e923eed1d251d1f9b6ba	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several @DISEASE$ associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+36eae130f154ff32795b23af36180ddfc15f077e	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several @DISEASE$ associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+01cacf49ee1ef573aa16bca4f18c4aee72810a99	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+96c31135205296eb8065b731a22a5bb2da9df7e4	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+52445ce282700889870fdab5d179159a87e40084	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+3aef4bd96874a31754d21f7723844bfc17f7ee96	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, @DISEASE$, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+3009f28b4a60da13939528a22d48cb962ed8b1df	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, @DISEASE$, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+01b98110d34dcab4a4fdc7a1ea8e3e048b2bd0d4	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked @DISEASE$), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+5b226cf4996989904e08d69482062203403b312c	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, @DISEASE$, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+9155876ca191f6260515be1a254a4d498acd0ef6	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., @DISEASE$, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+fecabfe0efe41b917e854a80c243b3412a1d7dc5	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, @DISEASE$, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+278421598e9453bd97687a3bf6cfa6ab4087ce26	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, @DISEASE$, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+0043a4ddf2c594539cbcb08572f06d8471c258c3	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, @DISEASE$, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+a3b1e6d7446fa12f2c7f9c79c8eb4153779168a4	We propose a widening of the phenotypic spectrum of this syndrome and consideration of the use of an eponomic name, such as the Cohen-@DISEASE$, or clear recognition that the sentinel findings of holoprosencephaly and @PHENOTYPICFEATURE$ are not essential for diagnosis.	has_symptom
+d2a7413f8543bf30ffd258838d15a9e5fb74a59b	@DISEASE$ with bilateral @PHENOTYPICFEATURE$: a rare case report.	has_symptom
+4d20f41657ac84c9144440ab5d755c04158b1143	@DISEASE$ (JIA) is characterised by @PHENOTYPICFEATURE$, swelling and a limitation of movement caused by inflammation.	has_symptom
+84dbb73b1824b53c6435567c66978eb10dd562b0	The present study reported high levels of D-dimer associated with multiple @PHENOTYPICFEATURE$ in a 5-year-old patient with systemic @DISEASE$ (JIA).	has_symptom
+aa934b869ad22277816d22a5fef93f2d745b8912	We describe a 10-year-old girl with hand deformities associated with @PHENOTYPICFEATURE$ and swelling managed as @DISEASE$ for 3 years.	has_symptom
+433e6cc1c0a128dcd88546ec9a00b8b006f95c5e	One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of @DISEASE$ (OMIM 602342), a distinct @PHENOTYPICFEATURE$ syndrome with plantar lipomatosis.	has_symptom
+fea3b58c90ccec01265ba3338141f5ea5b881bf1	De novo missense and frameshift mutations and deletions involving TBL1XR1 have been described in patients with @PHENOTYPICFEATURE$ and autism, but without any of the dysmorphic findings or malformations associated with @DISEASE$, implying a mutation-specific mechanism for the pathogenicity of p.Tyr446Cys.	has_symptom
+836047fdccb0ed6e1f6c922e2036db16e06ddce4	De novo missense and frameshift mutations and deletions involving TBL1XR1 have been described in patients with @DISEASE$ and @PHENOTYPICFEATURE$, but without any of the dysmorphic findings or malformations associated with Pierpont syndrome, implying a mutation-specific mechanism for the pathogenicity of p.Tyr446Cys.	false
+1e66ae05fa1a49711e733f3d2532198cfdb18f87	De novo missense and frameshift mutations and deletions involving TBL1XR1 have been described in patients with intellectual disability and @PHENOTYPICFEATURE$, but without any of the dysmorphic findings or malformations associated with @DISEASE$, implying a mutation-specific mechanism for the pathogenicity of p.Tyr446Cys.	false
+1bf76b689f234f5e8827648218e626b66f5c53bc	@DISEASE$ (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and @PHENOTYPICFEATURE$, as well as persistent fetal finger pads and distinct facial features.	has_symptom
+beb7b0d8162aebddd18d030c4826bb2061fb8a6f	@DISEASE$ is a rare intraventricular brain tumor that affects young adults and presents with increased intracranial pressure secondary to obstructive @PHENOTYPICFEATURE$.	has_symptom
+24b7f757b2cf9992f8223f728ca38ecf2a8bc75f	In this operative video manuscript, the author demonstrates an illustrative step-by-step technique for microsurgical resection of a large @DISEASE$ involving both lateral ventricles in a patient with @PHENOTYPICFEATURE$ using the interhemispheric transcallosal approach.	has_symptom
+1e398a2d1c829deb7653b042887e8db6c6351656	From January 2006 to October 2008, three patients with intraventricular @DISEASE$ with acute @PHENOTYPICFEATURE$ were treated by endoscopic surgery in our hospital.	has_symptom
+b5675fb29da56dcae528ffa7265ff7b5d209ea25	Necrotizing @PHENOTYPICFEATURE$ of the facial nerve 'vasa nervorum' is nowadays the most widely accepted etiopathogenetic theory to explain facial damage in @DISEASE$ patients.	has_symptom
+0a31f89a1eec609ad4cbf8a4841fb7fc1f8ade5c	We included all patients with @DISEASE$ with renal biopsies between January 2002 and May 2014: granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, microscopic polyangiitis and renal limited @PHENOTYPICFEATURE$.	has_symptom
+c89037444523208f044255f520ac5e6892ddbf8c	This group includes granulomatous vasculitides, namely, @DISEASE$ (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and nongranulomatous @PHENOTYPICFEATURE$, namely, microscopic polyangiitis (MPA).	has_symptom
+e56291e101822be6e6f6a666f193b227cc597bde	@PHENOTYPICFEATURE$ skin lesions can also occur during the chronic-relapsing course of systemic vasculitides, such as @DISEASE$ and eosinophilic granulomatosis with polyangiitis, with which cutaneous vasculitides can share clinical and histological features.	has_symptom
+84702225d96bea1d017a5b23761e19ffd7718962	The most common types of adulthood vasculitides in Egypt are Beh?et's disease, hepatitis C virus @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+1b3919ed1be2fa346b53df73217064dfd0067995	@DISEASE$ (GPA; also known as Wegener's granulomatosis) is a primary systemic @PHENOTYPICFEATURE$ involving the ear, nose and throat system (ENT) and lower respiratory tract.	has_symptom
+b5e0cc201b1278340f4c3133d1fa160bc90d7e4f	A fatal case of propylthiouracil-induced @DISEASE$ resulting in rapidly progressive glomerulonephritis, acute hepatic failure, and cerebral @PHENOTYPICFEATURE$.	has_symptom
+3000ae4adc5ee31e3b27fe3b22b560b00d3e7157	Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (e.g., @DISEASE$), Behcet's disease, rheumatoid arthritis, sarcoidosis, and systemic lupus erythematosus are a few of the diseases commonly associated with ocular @PHENOTYPICFEATURE$.	has_symptom
+8d9f27627074df5c0bb3eec5be0c5db9ac7873c2	Central nervous system (CNS) involvement in @DISEASE$ (GPA), including pachymeningitis and CNS @PHENOTYPICFEATURE$, is uncommon.	has_symptom
+92163831bf3518fbd64cf17285bc26b37419cbd5	This article reviews the recent literature about @PHENOTYPICFEATURE$ of the ear or the cochleovestibular system, focusing on giant-cell arteritis, Takayasu's arteritis, polyarteritis nodosa, Kawasaki disease, microscopic polyangiitis, @DISEASE$ (GPA), eosinophilic GPA, systemic lupus erythematosus, Cogan's syndrome and Beh?et's disease.	has_symptom
+0ae2af34475aa91c0654d2e85cc1e5cad90886eb	A boy with a negative family history presented polyuria and @PHENOTYPICFEATURE$ in the first months of life and was diagnosed with @DISEASE$.	has_symptom
+04ec523ab7ae81d375e24f8a5cf703043900ebb5	We discuss patient from @DISEASE$-endemic area who presented with persistent headache, weakness and @PHENOTYPICFEATURE$.	has_symptom
+1ec823a3d2057dfd9456bdf33116bbd35ad3b5e5	Infection with @DISEASE$ recurrentis: pathogenesis of @PHENOTYPICFEATURE$ and petechiae.	has_symptom
+4f911ec77ca46ab199bfc702d737a4578b05f5cd	Beside lameness, @PHENOTYPICFEATURE$, polyarthritis, pneumonia and dullness there is a study showing a connection between panuveitis and @DISEASE$ infection in the horse.	has_symptom
+f635b576c3e11970f427e579f52ed14d43443c21	Both malaria and relapsing fever @DISEASE$ are infectious diseases characterized by @PHENOTYPICFEATURE$, headache, myalgia, hepatosplenomegaly and tendency to relapse.	has_symptom
+2fa02bd3f576a3c9cecc3c9576eeaf4cca1972fb	Clinically, the patient demonstrated typical symptoms for each of the major stages of @DISEASE$, including @PHENOTYPICFEATURE$, erythema chronicum migrans, aseptic meningitis, Bell's palsy, and arthritis.	has_symptom
+c52b4e4430bdc3f04a9ac2b9ec5816a9abd9c277	Patients with @DISEASE$ may present with early disease that is characterized by a "bull's eye rash", @PHENOTYPICFEATURE$ and myalgias or with early disseminated disease that can manifest with arthralgias, cardiac conduction abnormalities or neurologic symptoms.	has_symptom
+6ae5198383c58388ea2285e30710cb123668319b	[@DISEASE$ (cardiac lysosomal storage disease) associated with @PHENOTYPICFEATURE$].	has_symptom
+43df3e2267743e9a4b8ce6affec10bf8d080e9d0	@DISEASE$ in @PHENOTYPICFEATURE$.	has_symptom
+7eceef515105c1eb105d2d668aed3026b3166e69	Manifestations of @DISEASE$ include progressive renal and @PHENOTYPICFEATURE$, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms.	has_symptom
+1300d57442f8965fac84a2cf3a031e9bc89a72b2	Manifestations of @DISEASE$ include progressive renal and cardiac insufficiency, neuropathic @PHENOTYPICFEATURE$, stroke and cerebral disease, skin and gastrointestinal symptoms.	false
+93ad101bb6b224497a0d3a71ecf72ccf4bfa1b81	Manifestations of Fabry disease include progressive renal and @DISEASE$, neuropathic @PHENOTYPICFEATURE$, stroke and cerebral disease, skin and gastrointestinal symptoms.	false
+f3c6cf562c3fbd8b002039ca55ccab9e508d871e	@DISEASE$ results in a global vasculopathy leading to early-onset stroke and renal and @PHENOTYPICFEATURE$.	has_symptom
+6c90b6da6e9aeb7e7a62e6e2fe82c355df0c82fc	A 58-year-old woman with cardiac enlargement and @PHENOTYPICFEATURE$ was a member of a family with @DISEASE$.	has_symptom
+f02ecf91e316503dd6df05e9105e233c663ee0d7	Her father had @DISEASE$ and died due to chronic renal and congestive @PHENOTYPICFEATURE$.	has_symptom
+8826fe287bb9593a264da067782f0d9b61b75285	Morbidity and mortality of @DISEASE$ depend on renal insufficiency, @PHENOTYPICFEATURE$ and nervous system involvement.	has_symptom
+709e8a4f197e64b0cdd719601eec4b02c732bf15	We report a case of @DISEASE$ who developed symptoms and signs of @PHENOTYPICFEATURE$ despite successful renal transplantation 14 years ago.	has_symptom
+7eceef515105c1eb105d2d668aed3026b3166e69	Manifestations of @DISEASE$ include progressive renal and @PHENOTYPICFEATURE$, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms.	has_symptom
+1300d57442f8965fac84a2cf3a031e9bc89a72b2	Manifestations of @DISEASE$ include progressive renal and cardiac insufficiency, neuropathic @PHENOTYPICFEATURE$, stroke and cerebral disease, skin and gastrointestinal symptoms.	false
+93ad101bb6b224497a0d3a71ecf72ccf4bfa1b81	Manifestations of Fabry disease include progressive renal and @DISEASE$, neuropathic @PHENOTYPICFEATURE$, stroke and cerebral disease, skin and gastrointestinal symptoms.	false
+e4924f50c7cef903aa9b3fa6f9fcc4074c711169	Their mother had severe @PHENOTYPICFEATURE$ due to a heterozygous form of @DISEASE$.	has_symptom
+9ed5dfec9349ea1a0bd1eec57a90e0a922928a63	Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause @DISEASE$, a Prader-Willi-like disease that manifests as developmental delay/@PHENOTYPICFEATURE$, hypotonia, feeding difficulties, and autism spectrum disorder.	has_symptom
+eaeae2ea95cdb52ef520cc69ec838dd6d1a5577f	located in the Prader-Willi critical region 15q11-15q13, have been reported to cause @DISEASE$ (SYS), a genetic disorder that manifests as developmental delay/@PHENOTYPICFEATURE$, hypotonia, feeding difficulties and autism spectrum disorder.	has_symptom
+6dbea3f1bf42d36fbca8249261e0dcc2ce9b3a43	@PHENOTYPICFEATURE$ and amblyopia are much more common with bilateral @DISEASE$ than with unilateral DRS.	has_symptom
+d5bdfe2c556ea6422e53f547b2e3c0b6125ea23c	@DISEASE$ (USH3) is an autosomal recessive disorder characterized by variable type and degree of progressive @PHENOTYPICFEATURE$ and retinitis pigmentosa.	has_symptom
+a6caf67d1de6fb2b414f31f5a78011190926ab6b	A case of @DISEASE$ in a boy of 6 years with bilobal involvement presenting with intermittent @PHENOTYPICFEATURE$, fever and hepatomegaly is reported here.	has_symptom
+d7ab8bd4ea4d72effadc140513e35a9d2c3f6ed7	A case of Carolis disease in a boy of 6 years with bilobal involvement presenting with intermittent @DISEASE$, @PHENOTYPICFEATURE$ and hepatomegaly is reported here.	false
+b9fc80b8581f8f44583f0145e4c8f8d5f528c5f7	A case of @DISEASE$ in a boy of 6 years with bilobal involvement presenting with intermittent abdominal pain, @PHENOTYPICFEATURE$ and hepatomegaly is reported here.	false
+34fd4ea945ec88c62156d1086b79a412412f861d	GMP reduced the intensity of inflammatory process and @PHENOTYPICFEATURE$ of DNCB-induced dermatitis, with a significant decrease in eosinophils recruitment and @DISEASE$.	has_symptom
+49bdc173514032c09e7e5e23992c4ae66dabed6d	Pathomorphological analysis of skin biopsy specimens from patients with Fabry disease showed @PHENOTYPICFEATURE$ and mucoid swelling of vascular walls in the skin, pronounced telangiectasias, endotheliocyte degeneration and death, compensatory proliferation of pericytes, and @DISEASE$.	has_symptom
+b561c146b60c8bb677f0fe2f7dba96fbd10ecf4d	@DISEASE$ epilepsy surgery would eliminate @PHENOTYPICFEATURE$ without causing any functional deficits.	has_symptom
+3835fa9b072ba77f7d52d599c530b51add8e3995	Together, these results identify FMR2 as a candidate gene for @PHENOTYPICFEATURE$, when mutated along with @DISEASE$.	has_symptom
+539139a46a26cf1c0c83080d23cfbffcda3b566e	They did not differ from a larger surgical group with respect to sex, side of surgery, age at onset, or duration of epilepsy, Full Scale Intelligence Quotient, @PHENOTYPICFEATURE$ outcome, or preoperative interictal dysphoric disorder (IDD), but there was a significant excess of postoperative @DISEASE$ and operative complications (bone flap infections); the callosotomy patients had marked hemisphere disconnection syndromes.	has_symptom
+08396ac1915ccbe6d943d4edfe4ea747fe18e795	They did not differ from a larger surgical group with respect to sex, side of surgery, age at onset, or duration of epilepsy, Full Scale Intelligence Quotient, @PHENOTYPICFEATURE$ outcome, or preoperative interictal dysphoric disorder (@DISEASE$), but there was a significant excess of postoperative IDD and operative complications (bone flap infections); the callosotomy patients had marked hemisphere disconnection syndromes.	has_symptom
+3ef60b15f26679e61f63d78d183e149b1fdf7ce4	Patients with complete deletion of the @DISEASE$ locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of @PHENOTYPICFEATURE$.	has_symptom
+c8344875437356806ecb415c2c7ea28b0d0778f1	Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive @PHENOTYPICFEATURE$, and the occurrence of @DISEASE$.	false
+198958cbb73a9c05608cf36aa0a685bac0cdb99e	Patients with complete deletion of the @DISEASE$ locus often have atypical phenotypes including ptosis, obstructive @PHENOTYPICFEATURE$, and the occurrence of seizures.	false
+4c438fb5937e10c8e4d8feb917c3c3ef5d880798	Patients with complete deletion of the IDS locus often have atypical phenotypes including @PHENOTYPICFEATURE$, obstructive sleep apnoea, and the occurrence of @DISEASE$.	false
+68ce88dbc594f9061c1ac695e6932aa4a785b287	Patients with complete deletion of the @DISEASE$ locus often have atypical phenotypes including @PHENOTYPICFEATURE$, obstructive sleep apnoea, and the occurrence of seizures.	false
+9f657b5ba6ef0fe206a0e3318c6108510f181257	The less severe form of PIGA deficiency does not involve facial dysmorphism and multiple CNS abnormalities; instead, patients present with milder @DISEASE$, treatable @PHENOTYPICFEATURE$ and generally a longer lifespan.	has_symptom
+09c438478e9089a1a13c0b9c8c0df401f1b3bed7	Functional @PHENOTYPICFEATURE$ present unique challenges in terms of @DISEASE$ of the disorder and a lack of specific management.	has_symptom
+8d9aaef622157e23f58708ff1f534a449a8b0cc4	Patients with IDD and additional psychiatric comorbidity had significantly higher @PHENOTYPICFEATURE$ frequency, higher level of side effects to the antiepileptic treatment, and lower quality of life, both when compared to patients with normal screening and patients with @DISEASE$ as the only comorbidity.	has_symptom
+f425468242e73a046903d832d3f11304c114b0f6	Patients with @DISEASE$ and additional psychiatric comorbidity had significantly higher @PHENOTYPICFEATURE$ frequency, higher level of side effects to the antiepileptic treatment, and lower quality of life, both when compared to patients with normal screening and patients with IDD as the only comorbidity.	has_symptom
+31cc911c0a8ca4a86776749c9f3404256211fd0a	A sample of 142 consecutive adult outpatients with epilepsy were assessed using the Interictal Dysphoric Disorder Inventory (IDDI), a 38-item, self-report questionnaire specifically developed to evaluate presence and severity of @DISEASE$ symptoms as well as their habitual association with seizures (coded as before, after, during, or when @PHENOTYPICFEATURE$-free) and their duration.	has_symptom
+52a474024ea2a972818943de0f8492553e0235a1	A sample of 142 consecutive adult outpatients with epilepsy were assessed using the Interictal Dysphoric Disorder Inventory (IDDI), a 38-item, self-report questionnaire specifically developed to evaluate presence and severity of @DISEASE$ symptoms as well as their habitual association with @PHENOTYPICFEATURE$ (coded as before, after, during, or when seizure-free) and their duration.	has_symptom
+30f0b56432fbbb35a05ef5b7f8dd422d44fcdb10	In the @DISEASE$ group, symptoms were chronic and unremitting in one-third of cases, with labile affective symptoms being correlated with age at onset of @PHENOTYPICFEATURE$ (rho = -0.612,	has_symptom
+dfae99dc310c8e0cb5bde5734901b3d90ded56c6	Paradoxical worsening of @PHENOTYPICFEATURE$ activity with pregabalin in an adult with isodicentric 15 (@DISEASE$-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.	has_symptom
+ba1ead7dad6ca2b487449bd8dde70fea56ba9c30	@PHENOTYPICFEATURE$ and hypertension in a patient with @DISEASE$.	has_symptom
+2eaa8944e58d859f4495ca8270086ad84ad0b2eb	Three features of @DISEASE$ that are not always appreciated are hypoplastic iliac wings, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+8bfefaf7bb3237fa2ba70b4e1a3f18ac71b2e34d	Three features of @DISEASE$ that are not always appreciated are hypoplastic iliac wings, @PHENOTYPICFEATURE$, and brachydactyly.	false
+cc18b4f1f51d0d37d5131823ed54555123076cf5	Three features of cleidocranial dysplasia that are not always appreciated are hypoplastic iliac wings, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1d8eda8d05d6fda7044d74ce1b4de9ab606b3f2e	Central areolar choroidal dystrophy (@DISEASE$) causes bilateral irreversible central @PHENOTYPICFEATURE$ in the 5th to 7th decades.	has_symptom
+44a0d251654da850a55a86d62cdc9ec994d7369c	@DISEASE$ (CACD) causes bilateral irreversible central @PHENOTYPICFEATURE$ in the 5th to 7th decades.	has_symptom
+fe3db2391a953a6d70a32912087e434e757ae6ac	Both of them showed @PHENOTYPICFEATURE$, a beaked nose with bird-like facies, prominent eyes, a small mouth, growth retardation, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford @DISEASE$ was made.	has_symptom
+d8d0d407897cee53eec049ced8cc42d0b988da7a	Both of them showed @DISEASE$, a beaked nose with bird-like facies, prominent eyes, a small mouth, @PHENOTYPICFEATURE$, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made.	false
+fb1dc080a460be39178987472a54ec9998c56fe4	Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, @PHENOTYPICFEATURE$, muscle and @DISEASE$, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford Progeria was made.	false
+5b6c3a6bd396e80f704be59c5531816401a7f885	Both of them showed mandibular hypoplasia, a beaked nose with bird-like facies, prominent eyes, a small mouth, @PHENOTYPICFEATURE$, muscle and skin atrophy, but the female patient showed such a severe and early phenotype that a first working diagnosis of Hutchinson-Gilford @DISEASE$ was made.	false
+94dc36584a57f04eee9d11e580cb52eb83f9154b	Pazopanib is an oral multikinase inhibitor that has proved effective in adults treated for relapsing @PHENOTYPICFEATURE$ and @DISEASE$ in particular.	false
+7678f242b469a5d4fa7b2a96fba9b5413e93a722	Two cases are reported here of pediatric patients with pretreated relapsing @DISEASE$ whose @PHENOTYPICFEATURE$ showed a prolonged response to pazopanib given on compassionate grounds.	false
+2f4eca69f63d728bf9b7ac94593f70c3569da418	SS18-SSX represents a @PHENOTYPICFEATURE$-specific target in @DISEASE$.	false
+b10e60652db6a962940314626c50321ce80815cc	In humans, postulated gain-of-function missense mutations cause @DISEASE$ (BRWS), characterized by intellectual disability, cortical malformations, coloboma, @PHENOTYPICFEATURE$, and typical facial features.	has_symptom
+534c285ce9cedd9e946f847046ed00aea2099015	In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by @PHENOTYPICFEATURE$, cortical malformations, @DISEASE$, sensorineural deafness, and typical facial features.	false
+5dfcd6ec3fa8ef4397893aa75fe22a9bfb1143cd	In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by @PHENOTYPICFEATURE$, cortical malformations, coloboma, @DISEASE$, and typical facial features.	false
+9c96873a7f2bbd567af6a0704e2078242c30933f	In humans, postulated gain-of-function missense mutations cause @DISEASE$ (BRWS), characterized by @PHENOTYPICFEATURE$, cortical malformations, coloboma, sensorineural deafness, and typical facial features.	false
+c27b04b932d5814703e4fcaa57bce0f5c8ab8690	We report a 6 month old boy with congenital hydronephrosis, @PHENOTYPICFEATURE$, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of @DISEASE$.	has_symptom
+4a29b538ee77ad5eb45430c1c6fafc9a620150db	We report a 6 month old boy with congenital hydronephrosis, @DISEASE$, severe hypotonia, @PHENOTYPICFEATURE$, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome.	false
+6669dd2d7ac1849794ae59c723219d2be4e8097e	We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, @PHENOTYPICFEATURE$, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of @DISEASE$.	false
+2ddfc241f058cfbdb5e038eb5c2b930076cf8950	We report a 6 month old boy with @DISEASE$, cleft palate, severe hypotonia, @PHENOTYPICFEATURE$, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome.	false
+4720364f35bafbcb310352b32af842f19816aff9	The XPV gene encodes DNA polymerase eta, which catalyzes an accurate translesion synthesis, indicating that the @DISEASE$ gene contributes @PHENOTYPICFEATURE$ suppression in normal individuals.	has_symptom
+5f745c7d28bd5a30be97856be8bc6913565d4c39	@PHENOTYPICFEATURE$, brachydactyly, and Peters' anomaly (@DISEASE$): confirmation of autosomal recessive inheritance.	has_symptom
+1ddfdadfe1b429a1d929c2dc63661e84ed12e69e	Short stature, @PHENOTYPICFEATURE$, and @DISEASE$ (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.	false
+e002646cee6c89628e2194c584313a90d0b0a24f	Short stature, @PHENOTYPICFEATURE$, and Peters' anomaly (@DISEASE$): confirmation of autosomal recessive inheritance.	false
+418b6ab2706a30e884eca02012ca1727dda741b5	@DISEASE$, @PHENOTYPICFEATURE$, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.	false
+fe2ce7f2a5bcc059eeeef021a2e9bd6f7d15dd41	@DISEASE$ is a disorder in which patients with Peters' anomaly are also found to have @PHENOTYPICFEATURE$, brachymedia, abnormal ears, cleft lip and palate, and mental retardation.	has_symptom
+5943cf2c841eefcb7fa5da0fe49ecf89796994a4	Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3178e1ae8ada92ae2034ca1bfb266ec806be3282	Peters'-Plus syndrome is a disorder in which patients with @DISEASE$ are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and @PHENOTYPICFEATURE$.	false
+db10ac13e9ae6a0f7e6c384bfefdd7cc517a8eb9	Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have @DISEASE$, brachymedia, abnormal ears, cleft lip and palate, and @PHENOTYPICFEATURE$.	false
+1a84ca74e673ac5e05b33c4133e752279393d25d	@DISEASE$ is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and @PHENOTYPICFEATURE$.	false
+165bf9ed87ed2efc96f486b959d91d34469de865	@DISEASE$ is a rare recessive autosomal disorder comprising ocular anterior segment dysgenesis, @PHENOTYPICFEATURE$, hand abnormalities and distinctive facial features.	has_symptom
+3492966a4771bd7268ac42e3fb8bd5f4232f20fc	Peters plus syndrome is a rare recessive autosomal disorder comprising @PHENOTYPICFEATURE$, @DISEASE$, hand abnormalities and distinctive facial features.	false
+53e7d0baa5ca8188adb42cae6f1010b89b8f0df6	@DISEASE$ is a rare recessive autosomal disorder comprising @PHENOTYPICFEATURE$, short stature, hand abnormalities and distinctive facial features.	false
+a015699d3d34b914094bfa7c817a39599b848c8a	Two sibs with a phenotype characterised by @PHENOTYPICFEATURE$, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (@DISEASE$).	has_symptom
+56fb10f09635b5fdac38f5fb2cdff19b570c7df1	Two sibs with a phenotype characterised by @DISEASE$, @PHENOTYPICFEATURE$, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome).	false
+05cb612610445c20dfad32e94d4fc0d425fcb556	Two sibs with a phenotype characterised by short stature, @PHENOTYPICFEATURE$, and ocular anomalies (Peters' anomaly) are reported (@DISEASE$).	false
+d8eae148ddbf778c4c11c2838210afe9bdd2bb66	Two sibs with a phenotype characterised by short stature, @PHENOTYPICFEATURE$, and ocular anomalies (@DISEASE$) are reported (Peters'-plus syndrome).	false
+b3c4ea3b58872a22b66cebf7e4ee97540fd344c3	@DISEASE$ is an autosomal recessive rare disorder comprising ocular anterior segment dysgenesis, @PHENOTYPICFEATURE$, hand abnormalities, distinctive facial features, and often other major/minor additional defects.	has_symptom
+5b8e5f4dc906f51b70c3402dd0d43be0028017dd	Peters plus syndrome is an autosomal recessive @DISEASE$ disorder comprising @PHENOTYPICFEATURE$, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects.	false
+8131d6f091b42f9262dfd2df782d587e24d523ee	@DISEASE$ is an autosomal recessive rare disorder comprising @PHENOTYPICFEATURE$, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects.	false
+8953b10b2763f9b308f7c6b64d563872ee153b78	Peters plus syndrome is an autosomal recessive rare disorder comprising @PHENOTYPICFEATURE$, @DISEASE$, hand abnormalities, distinctive facial features, and often other major/minor additional defects.	false
+24dca289ba5f588308220571d781ac3a9a1ce59a	@DISEASE$ comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), @PHENOTYPICFEATURE$, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	has_symptom
+10dd1a0111cfe68d71070868221847ca44c9611d	Peters Plus syndrome comprises @PHENOTYPICFEATURE$ (most commonly @DISEASE$), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+4f2c4fe1962e0d15960abb1e6ff2413c1814f1ec	Peters Plus syndrome comprises @PHENOTYPICFEATURE$ (most commonly Peters anomaly), @DISEASE$, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+1e268eee7eb848e89b278b832ae9d22437c8832d	Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), @DISEASE$, @PHENOTYPICFEATURE$, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+b65865eeceeda121eccb79b8c2d3ddb6e65e5c61	Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly @DISEASE$), short stature, @PHENOTYPICFEATURE$, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+117fa2cca8cdf90f21e89b25ef4b405941536e22	@DISEASE$ comprises @PHENOTYPICFEATURE$ (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+d6781ed711a3e5310996ddcc00ee5bf6f2b045d3	@DISEASE$ comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, @PHENOTYPICFEATURE$, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+7b0e5664a11376cf01673a80eb595cc20cb4ab37	@DISEASE$ was diagnosed based on anterior ocular segment anomalies, @PHENOTYPICFEATURE$, developmental delay and characteristic face.	has_symptom
+58a9add18947c0a93cf01626dd45ffe6a7fccb9a	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, @PHENOTYPICFEATURE$, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	has_symptom
+3eb3674f66ca8e6eebbdd53372f132f101f5a9b8	Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, @DISEASE$, and @PHENOTYPICFEATURE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+c727879350f94b458991a5dfb7c9fa329b7c33f5	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature, and @PHENOTYPICFEATURE$, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+5f20caa202139ee29f9e6dea90266da2d7ada9bf	@DISEASE$ (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @PHENOTYPICFEATURE$, short stature, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+98f8e2cc4a68fdd0a80135a80f2b8a17a8eaec28	Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, @PHENOTYPICFEATURE$, @DISEASE$, and brachydactyly, is caused by mutations in the ?3-glucosyltransferase (B3GLCT) gene.	false
+52c991faa1f24248e2fc82adb7a744d80501b3a9	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	has_symptom
+557932dd647ea7ae60bd499ad9bdb77afcbca5d2	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+7db63d32915485da97007145b963e255632e82ec	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+245f7b3f70ab877c92d9d0e20836e68e1031eac9	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+aee5d40168a91d1b05b8b6705030ffe03727bf12	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+8e2c1e74fb826873e7d4f837687b23e494d3f462	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @DISEASE$, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+10726667bd1a89a94c7931ec7b34b619252d1468	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+c0b2c43ba9ebacc160e9b7f812e1c13d16054966	Peters plus syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+acbe69bd8e3117d3b5ef3634b5ccb2b0b12ba0b1	Peters plus syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+108c61275f9cf20377d3a51d48e4a86127324738	Manifestations of @DISEASE$ include Peters' anomaly, @PHENOTYPICFEATURE$, small hands, mental retardation, abnormal ears and cleft lip and palate.	has_symptom
+244c84e4f7079bc92bee68ffd8ea55cd1393ed06	Manifestations of Peters'-Plus syndrome include Peters' anomaly, short stature, small hands, @PHENOTYPICFEATURE$, abnormal ears and @DISEASE$.	false
+d1a9cdc6f929558d8947276a84f5568008a4cdb0	Manifestations of Peters'-Plus syndrome include @DISEASE$, short stature, small hands, @PHENOTYPICFEATURE$, abnormal ears and cleft lip and palate.	false
+b1325cb681206760d1964ecbeddbf87344d18b3b	Manifestations of @DISEASE$ include Peters' anomaly, short stature, small hands, @PHENOTYPICFEATURE$, abnormal ears and cleft lip and palate.	false
+edad3c6a023d2ac85e6b7e8713e26dc403e9a1cb	Manifestations of Peters'-Plus syndrome include Peters' anomaly, @DISEASE$, small hands, @PHENOTYPICFEATURE$, abnormal ears and cleft lip and palate.	false
+1cc86e7fbd48bb18c3111b941d0c1776f9491fa9	@DISEASE$: a @PHENOTYPICFEATURE$ or not a tumour.	has_symptom
+72d01eb8a81c343725563497ba6a2a1b908b9d1a	@DISEASE$: a tumour or not a @PHENOTYPICFEATURE$.	has_symptom
+32a248e6a066cfe34c87d442d588b9fae9969bda	Cowden syndrome is a @DISEASE$ with a high risk of breast and thyroid @PHENOTYPICFEATURE$, both benign and malignant.	has_symptom
+521ac5dbe0276cbe585f6c3e1a25b511754c790a	@DISEASE$ is a multiple hamartoma syndrome with a high risk of breast and thyroid @PHENOTYPICFEATURE$, both benign and malignant.	has_symptom
+53a46f079d9bbd9caf80f53c3c25ea211773b3a3	Hereditary mutation of PTEN causes @PHENOTYPICFEATURE$-susceptibility diseases such as @DISEASE$.	has_symptom
+3821f2d00ce2d8235db669d455c98e14111986ea	Cowden's disease, also called @DISEASE$, is a clinical entity characterized by hamartomatous @PHENOTYPICFEATURE$ of endodermal, mesodermal and ectodermal origin.	has_symptom
+85146fae4a0b826adab92fae61f622dae3d25f72	@DISEASE$, also called multiple hamartoma syndrome, is a clinical entity characterized by hamartomatous @PHENOTYPICFEATURE$ of endodermal, mesodermal and ectodermal origin.	has_symptom
+4573e3ad0e9c52120092b83352eac03171a70ae3	@DISEASE$ and pituitary @PHENOTYPICFEATURE$.	has_symptom
+62df6c739f842493076826c5417c7b17fbb2f6b6	@DISEASE$ (CS) is a multiple hamartoma syndrome associated with the development of various @PHENOTYPICFEATURE$, including endometrial cancer.	has_symptom
+b3b59a3cf1f3cdf59fc6a4a3355fa380a0f6ddd9	Cowden syndrome (CS) is a @DISEASE$ associated with the development of various @PHENOTYPICFEATURE$, including endometrial cancer.	has_symptom
+529b59bf9f139540c823e89729d475a7e7ea407c	The keratotic @PHENOTYPICFEATURE$ of @DISEASE$: an electronmicroscopic study.	has_symptom
+a9da2eecb4ab4063972d47c0c5e20d6d5bc558df	Cowden syndrome (CS) (OMIM 158350) is a @DISEASE$ associated with germline mutations in the PTEN @PHENOTYPICFEATURE$ suppressor gene.	has_symptom
+edcc587bc739c3ddacfc3c733b9226fec15c5aee	@DISEASE$ (CS) (OMIM 158350) is a multiple hamartoma syndrome associated with germline mutations in the PTEN @PHENOTYPICFEATURE$ suppressor gene.	has_symptom
+069d4ba6d99670ad3060b843015bdbb9dc1cd753	Colonic polyposis and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0a2a2922736db0e2c51d5025dab14e333594193d	@DISEASE$ may be a manifestation of Cowden syndrome (multiple hamartoma-@PHENOTYPICFEATURE$ syndrome).	has_symptom
+ce9ca4487c11669ac81a60ad51d7fefef17b06ee	Lhermitte-Duclos disease may be a manifestation of @DISEASE$ (multiple hamartoma-@PHENOTYPICFEATURE$ syndrome).	has_symptom
+eee2463054358401bb668728daa0d0fa89a76fef	Lhermitte-Duclos disease may be a manifestation of @DISEASE$ (multiple @PHENOTYPICFEATURE$-neoplasia syndrome).	false
+9541042827298e04c1e2003ceabe847d3ba46051	Lhermitte-Duclos disease may be a manifestation of Cowden syndrome (multiple @PHENOTYPICFEATURE$-@DISEASE$ syndrome).	false
+d08f57146468f273e34958e5399ce6a2848a9915	@DISEASE$ may be a manifestation of Cowden syndrome (multiple @PHENOTYPICFEATURE$-neoplasia syndrome).	false
+75189a72de5e44829280a6de5b27c41e70657682	Lhermitte-Duclos disease may be a manifestation of Cowden syndrome (multiple @PHENOTYPICFEATURE$-neoplasia @DISEASE$).	false
+60c7585818d025e4df53e24315f3e8fb2fc4385a	We report on a 7-year-old girl who was referred for @PHENOTYPICFEATURE$, with clinical features of @DISEASE$, including elevated serum creatine phosphokinase, pseudohypertrophy of calf muscles, and muscle weakness, which became evident at 3 years of age.	has_symptom
+31e4e225e122e98e9b6ea305488dd8cbc5703be6	UBE3A is a gene responsible for the pathogenesis of @DISEASE$ (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe @PHENOTYPICFEATURE$.	has_symptom
+0d31498d0c1805d5ef4979201b69a1572a709dbf	UBE3A is a gene responsible for the pathogenesis of @DISEASE$ (AS), a neurodevelopmental disorder characterized by symptoms such as @PHENOTYPICFEATURE$, delayed development and severe speech impairment.	false
+25c0ade50af7f1cc66446fbecee3b24c690a3048	UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as @PHENOTYPICFEATURE$, delayed development and severe @DISEASE$.	false
+9ebfc30670289012a7c8a5f131a51a61835bc6ee	@DISEASE$ (AS) is characterized by severe psychomotor retardation, @PHENOTYPICFEATURE$, happy disposition with bursts of laughter, ataxia, convulsions, and some distinct physical anomalies.	has_symptom
+3906e1be1a96c6f25767ed76b00bc469a170819b	@DISEASE$ (AS) is characterized by severe psychomotor retardation, speech impairment, happy disposition with bursts of laughter, @PHENOTYPICFEATURE$, convulsions, and some distinct physical anomalies.	false
+4bd2bff600eb6345cde83b8757b576e6ecb8927c	Angelman syndrome (AS) is characterized by severe psychomotor retardation, @DISEASE$, happy disposition with bursts of laughter, @PHENOTYPICFEATURE$, convulsions, and some distinct physical anomalies.	false
+0641feadf56163f165b491db25c744a875aad96b	@DISEASE$ is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, @PHENOTYPICFEATURE$, seizures and ataxia.	has_symptom
+60caa2827f4fc74158f12c4ed80816232b7c64ed	@DISEASE$ is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, seizures and @PHENOTYPICFEATURE$.	false
+7dcc46068dd13676165fcd17dac22ce68c94d629	Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, @DISEASE$, seizures and @PHENOTYPICFEATURE$.	false
+401ad723cbeb2c58919477025af1e340175d522d	@DISEASE$ is a single-gene disorder characterized by @PHENOTYPICFEATURE$, developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia.	false
+0710aefddbcabd55d8f257a86dbfe9d6e5451e87	@DISEASE$ is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, @PHENOTYPICFEATURE$ and ataxia.	false
+cb080c3b42cbbd34aa136284eee54603cdcd970d	Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, @DISEASE$, @PHENOTYPICFEATURE$ and ataxia.	false
+3910e3110885e7c9b7fd5b54527f2ebac05f6393	Angelman syndrome is a single-gene disorder characterized by @PHENOTYPICFEATURE$, developmental delay, behavioural uniqueness, @DISEASE$, seizures and ataxia.	false
+28a3b7d0c8cfc8eef9d16517edc4f40afe8e7c86	@DISEASE$ (AS) is characterised by severe developmental delay, severe @PHENOTYPICFEATURE$, gait ataxia and/or limb tremor and a unique behavioural phenotype.	has_symptom
+673e07aef2f13a26014240d952d225da7dafa555	@DISEASE$ is characterised by mental retardation, epilepsy, @PHENOTYPICFEATURE$, facial dysmorphism and a characteristic behavioural phenotype.	has_symptom
+997a1d5138981dc18265931364895a196b974818	Angelman syndrome is characterised by @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, facial dysmorphism and a characteristic behavioural phenotype.	false
+3785b875c929dce145f7caa1d5b264f98ab2fa70	@DISEASE$ is characterised by mental retardation, epilepsy, speech impairment, @PHENOTYPICFEATURE$ and a characteristic behavioural phenotype.	false
+641f890698d32e0583efa64827b1eda4660efadf	Angelman syndrome is characterised by mental retardation, epilepsy, @DISEASE$, @PHENOTYPICFEATURE$ and a characteristic behavioural phenotype.	false
+9f705a76371f67e12a75c9d9a85b52e716a0c2e5	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype.	false
+c0dd1f73983f4f31ad3fc6e6748da71fd0f5e580	@DISEASE$ patients often require anesthesia for relatively innocuous procedures, and their @PHENOTYPICFEATURE$ and happy demeanor can confound postoperative pain assessment.	has_symptom
+f2ac30ebb526c652dcf17061ee4896e5d18014a0	@DISEASE$ is characterized by severe developmental delay, @PHENOTYPICFEATURE$, gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter.	has_symptom
+f1d978018502a01a2ed6e83c779f2b9fb2eec8a7	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by mental retardation, @PHENOTYPICFEATURE$, ataxia, and happy disposition with frequent smiling.	has_symptom
+5a6502e163cb8581e82778cf1b12abc369cb1c20	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by mental retardation, speech impairment, @PHENOTYPICFEATURE$, and happy disposition with frequent smiling.	false
+2c2dd158fa03bad55d81eb46a14dba8f28f5ebae	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, speech impairment, ataxia, and happy disposition with frequent smiling.	false
+3b8c61c8546fe4367cb64db739c0655cde527382	Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and happy disposition with frequent smiling.	false
+13d7e04db29b313072e3d87a96e7a1068daafaba	Angelman syndrome (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, ataxia, and happy disposition with frequent smiling.	false
+5f6a8fb8c265daa62c5b83ca15d083b3180f6d26	@DISEASE$ is a rare neurogenetic disorder resulting in delayed neuropsychological development,  intellectual disability, @PHENOTYPICFEATURE$, movement or balance disorder and a behavioural uniqueness.	has_symptom
+e9532b0d0fa1a18bd37c9e682e1fdfcf6c09bf55	@DISEASE$ is a rare neurogenetic disorder resulting in delayed neuropsychological development,  @PHENOTYPICFEATURE$, speech impairment, movement or balance disorder and a behavioural uniqueness.	false
+28ae917ed9d9aacfbda5261d14156eb142397718	Angelman syndrome is a rare neurogenetic disorder resulting in delayed neuropsychological development,  @PHENOTYPICFEATURE$, @DISEASE$, movement or balance disorder and a behavioural uniqueness.	false
+8ae67887fbdcde0f69b9c0d06e70f701a8cc6c2e	@DISEASE$ (AS) is a neurogenetic disorder characterized by intellectual disability, expressive @PHENOTYPICFEATURE$, movement disorder, epilepsy, and a happy demeanor.	has_symptom
+a84f1c1e6ba7b1c86368eb1464fb9d3fb7447a5c	Angelman syndrome (AS) is a neurogenetic disorder characterized by @PHENOTYPICFEATURE$, expressive @DISEASE$, movement disorder, epilepsy, and a happy demeanor.	false
+04237eb80ef73374e89a7a6b9723952f3bce06f6	@DISEASE$ (AS) is a neurogenetic disorder characterized by @PHENOTYPICFEATURE$, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor.	false
+757b2719d63864ef9d677d88225e29504b2d4fef	Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, and a happy demeanor.	false
+c42f0a434d0a644e4bd7d4e7e309a987cf4fb027	@DISEASE$ (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, @PHENOTYPICFEATURE$, epilepsy, and a happy demeanor.	false
+4ac12e9a563d42ea59f86def4d0576fb52ef52d2	@DISEASE$ ?/? is a severe, @PHENOTYPICFEATURE$ lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the ?/? subunits of the GlcNAc-phosphotransferase. To date, over 100 different mutations have been identified in MLII ?/? patients, but no large deletions have been reported.	has_symptom
+14283b22ed46def2dc7f0f2920877527e5b96ced	We aim to investigate the long-term benefits of growth hormone (GH) therapy in @PHENOTYPICFEATURE$ adolescents and adults with @DISEASE$ (PSIS), which would be beneficial for future clinical applications.	has_symptom
+1ab06c7d667fcbc380ba1513e4335040400981f6	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and @PHENOTYPICFEATURE$, manifested as syndromic (@DISEASE$) and non-syndromic hearing loss with an enlarged vestibular aqueduct (ns-EVA).	has_symptom
+29833228df04b0b97daab49cf5f7b44a013955da	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and @DISEASE$, manifested as syndromic (Pendred syndrome) and non-syndromic hearing loss with an @PHENOTYPICFEATURE$ (ns-EVA).	false
+79aae62bc34faa90c3cdb5e99cf2b88c64115df2	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and inner ear abnormalities, manifested as syndromic (Pendred syndrome) and non-syndromic @DISEASE$ with an @PHENOTYPICFEATURE$ (ns-EVA).	false
+82e02fbe502eccb93e2ebcb260a7f1914dbce1cb	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and inner ear abnormalities, manifested as syndromic (Pendred syndrome) and non-@DISEASE$ hearing loss with an @PHENOTYPICFEATURE$ (ns-EVA).	false
+468f350325f0aa2e8a1148b8fc93e61a238b1579	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and inner ear abnormalities, manifested @DISEASE$ (Pendred syndrome) and non-syndromic hearing loss with an @PHENOTYPICFEATURE$ (ns-EVA).	false
+7c30c7dd3d58775b84f95d351ba41b10f782fa6e	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and inner ear abnormalities, manifested as syndromic (@DISEASE$) and non-syndromic hearing loss with an @PHENOTYPICFEATURE$ (ns-EVA).	false
+078fdf006ef2384b814542e6d8a0d56f28f2b1f1	Mutations in SLC26A4 cause @DISEASE$ (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with @PHENOTYPICFEATURE$ such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).	has_symptom
+472fdc09d5c477ec9ca4d203c4d449a670370c27	Here, the authors report a patient with @PHENOTYPICFEATURE$ and typical CS mucocutaneous features who developed @DISEASE$ and two synchronous thyroid cancers of papillary and oncocytic type, in whom a germline 500-Kb deletion on chromosome 10q23 including PTEN was detected.	has_symptom
+1d740519847ee4a4c6f7cf0b9a071b018950a52d	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	has_symptom
+bc69ddac1fc985e89cf390b7fc59856940399db9	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	has_symptom
+6d92f69c12ce4dad2e899eb49e2a20eae7728556	Two unrelated patients with @DISEASE$, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+77d09409243d6fbefcd47fda344b74bbbf3a3da8	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+b03af606f6d21eced3377881500b081b2767d7fc	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	false
+d520fbe9abbeb921f925d61e71bfa7744cb41c7a	Two unrelated patients with @DISEASE$, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+ed0d55e9f89cf79c43b449a55bcf5fd9e7daa7d9	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a @DISEASE$ (Lhermitte-Duclos disease).	false
+5af7d213aa09393a0011959318fad891d33b95ff	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+f758ea7a83640538d60020ab107ecd3f1d037252	CNS deletion of Pten in the mouse has revealed its roles in controlling cell size and number, thus providing compelling etiology for @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+41c66c5d37502306319b45efa471e47e6e2711aa	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, @DISEASE$, and autism.	has_symptom
+b38bc213dc2701fa5ceeb2b430b5a72cd1465c0f	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+183eb2ff829de922f558e315ccac218b7e5abdfc	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @DISEASE$, @PHENOTYPICFEATURE$, Lhermitte-Duclos disease, and autism.	false
+51c9fa6b53dc2a02e5315d781bb58c874734160b	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, Lhermitte-Duclos disease, and autism.	false
+4ffe7bbd5038fb9e28a83b078dce4d9cbb4b3633	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and @PHENOTYPICFEATURE$.	false
+b54cf02ce71b2af901905ae1cfd9ab416ec771ea	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @DISEASE$, seizures, Lhermitte-Duclos disease, and @PHENOTYPICFEATURE$.	false
+5d64bef598e4c0031426af8ea764a6d8a5bc5a13	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, and autism.	false
+29afbda9d200e5863b84a1047bfb724d77261581	Germline PTEN mutations result in cancer predisposition, @PHENOTYPICFEATURE$ and benign hamartomas in many tissues, including @DISEASE$, a cerebellar growth disorder.	has_symptom
+5a2a389451469c27a6e5b1e6b56bdba31cc3f7ea	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	has_symptom
+b46d632a7b72bc635a22723c94dd627972f9eb95	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	has_symptom
+33e9034e441f961c23a8d8dc77b4b0c6122ad794	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+b7d1a6f116e7cf8fd504f955addbc15729436964	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+a84e794d75b6107cdb107b4914d4f6f988cef6d4	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @DISEASE$, @PHENOTYPICFEATURE$, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+7002b56defe3093fce84f8a5add432a7e6079d80	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @DISEASE$, seizures, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+aca1759942408020104b3543116734c76520e399	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+4c40b73523ee3674330a624d33cc91c25a4a8574	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+3fe84be3687a0c679caa85e0caa6f58b0f603e99	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	has_symptom
+8d117851fdd81d29481ffa30020aa2a2efe940f5	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	has_symptom
+7fabc9b77fe4a1361925710d880c4d68bdc3366d	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to @DISEASE$ predisposition.	false
+2141f2174d207400e37dcf08a90ab4d827aba38e	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+c62a128bbf63f7f29bc095f2e26f13e362ba4758	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+ce9e2b1f72a7428d59381618323b30c7d2e16a20	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to @DISEASE$ predisposition.	false
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+5e72c480695e913de11683579f2732d5816da7e3	Effects of inherited mutation of PTEN are highly variable and include @DISEASE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+871289d30cc98a87dd0297b071067221fb37a7a0	Effects of inherited mutation of PTEN are highly variable and include @DISEASE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+e40baf17e8885229cee36bf6f3097af1ef6cc7d1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+c634a16198121a50bfecea62f8b6c69e130bdcf1	Effects of inherited mutation of PTEN are highly variable and include @DISEASE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+0c6ddd029220a90bd40d9cfefc9f558180f6e9c1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+b22897e880bbdd50ace23dc91daeb02d58864182	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to @DISEASE$ predisposition.	false
+0a75daac10049b1d4cc044065cb0f29a355d6baa	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+4ba6f25e32316d50f16bd77c94956b5a5b2b5cfc	@DISEASE$ (LDD) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, ataxia and dysplastic cerebellar gangliocytomatosis.	has_symptom
+0da092b03fb945715d6074d8289e429ce77def30	Lhermitte-Duclos disease (@DISEASE$) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, ataxia and dysplastic cerebellar gangliocytomatosis.	has_symptom
+d484a175a059f77c500c76e4956261803b6fe005	@DISEASE$ (LDD) cosegregates with a subset of CD families and is associated with macrocephaly, @PHENOTYPICFEATURE$ and dysplastic cerebellar gangliocytomatosis.	false
+b1d6dc716ea95cac89a6ca72ad06ea069dac0634	Lhermitte-Duclos disease (LDD) cosegregates with a subset of CD families and is associated with @DISEASE$, @PHENOTYPICFEATURE$ and dysplastic cerebellar gangliocytomatosis.	false
+14f43803ec2dc3d27d46eae0ff1f84ec6ca605d8	Lhermitte-Duclos disease (@DISEASE$) cosegregates with a subset of CD families and is associated with macrocephaly, @PHENOTYPICFEATURE$ and dysplastic cerebellar gangliocytomatosis.	false
+bb663b43440969fbc4c15f873736b3503c7d5044	Thrombopoietin-mediated tyrosine phosphorylation of proteins was impaired in platelets from 20 patients with polycythemia vera and 3 with idiopathic myelofibrosis, but not in 4 patients with essential @PHENOTYPICFEATURE$, 3 with @DISEASE$, 6 with secondary erythrocytosis, 2 with iron-deficiency anemia, 4 with hemochromatosis, or 5 normal subjects.	has_symptom
+19241dedc9706620815fbc7fa4671512846f1137	A male newborn who had fetal face appearance (broad and prominent forehead, @PHENOTYPICFEATURE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	has_symptom
+cf2c9e88a7863daab7bd7ced3998c62a8136157c	A male newborn who had fetal face appearance (broad and prominent forehead, @DISEASE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), @PHENOTYPICFEATURE$, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.	false
+740c053b82c3c5381c25f2f439be26bf069ec8c8	A male newborn who had fetal face appearance (broad and prominent forehead, @DISEASE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @PHENOTYPICFEATURE$, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.	false
+cd541d8acf03f20f4707f1246c2068d9e36a9ad8	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @PHENOTYPICFEATURE$, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	false
+85748c155046dbc373a56a0f8b5445a80efd612e	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), @PHENOTYPICFEATURE$, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	false
+1f0cf8a24d6fb7166076cc126f88087cd70ba596	@DISEASE$ (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes @PHENOTYPICFEATURE$, a short nose, and a broad mouth.	has_symptom
+5d36e467ecfcbef9dd35d3c1502f99e9b27c1cf9	We report on a 17 month-old boy with @DISEASE$ characterized by mild dwarfism, brachymelia, frontal bossing, @PHENOTYPICFEATURE$, upturned nose, gingivodental, vertebral and bone age abnormalities, hypoplastic genitalia with normal gestation, birth weight and length and intelligence.	has_symptom
+15bf6569da94e767914d94aa2ed64b9dcade2c4d	@DISEASE$ (EVD) causes severe diarrhoea and @PHENOTYPICFEATURE$, leading to dehydration and electrolyte abnormalities.	has_symptom
+ebd57987898556518063a1a3a4fcd803873196f5	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, @PHENOTYPICFEATURE$, abdominal pain, and hemorrhage.	has_symptom
+4e8c19ccd105abb6aea66bfdd2891846b0cf1ab0	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, diarrhea, vomiting, abdominal pain, and hemorrhage.	false
+f26dfc1fb8f5769ad1c7c14bc5001e7fbc6ca709	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, @DISEASE$, @PHENOTYPICFEATURE$, and hemorrhage.	false
+08a125d24803cd231bfa07bdfddf74304afde575	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, vomiting, @PHENOTYPICFEATURE$, and hemorrhage.	false
+cd42afdd794ffb84c96e54272ea498538fd65924	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, @DISEASE$, vomiting, abdominal pain, and hemorrhage.	false
+4f795498fd8afcd02daa9b7c2a29cd585af1dbd0	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, @DISEASE$, vomiting, @PHENOTYPICFEATURE$, and hemorrhage.	false
+ac3353f479c03656af8cfef392e33b0e93939f03	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, diarrhea, @DISEASE$, abdominal pain, and hemorrhage.	false
+4cfd12e20da20722c3fb0ad0a3e561a6295d6354	Nevertheless, the first contact of most of the @DISEASE$ infected patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as malaria, hemorrhagic syndrome, typhoid or other gastrointestinal diseases, fever and @PHENOTYPICFEATURE$.	has_symptom
+f602e7393c816bb04831f82485454fbcd305c646	Nevertheless, the first contact of most of the Ebola infected patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as malaria, hemorrhagic syndrome, typhoid or other @DISEASE$, @PHENOTYPICFEATURE$ and vomiting.	false
+2a168b31477dd52950e8abc70187463b7cd47a03	Nevertheless, the first contact of most of the Ebola infected patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as malaria, hemorrhagic @DISEASE$, typhoid or other gastrointestinal diseases, @PHENOTYPICFEATURE$ and vomiting.	false
+f79461d2dc17fc65995d262bb1b4176858aa56b6	Nevertheless, the first contact of most of the Ebola @DISEASE$ patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as malaria, hemorrhagic syndrome, typhoid or other gastrointestinal diseases, @PHENOTYPICFEATURE$ and vomiting.	false
+16098a092841302b518922acbe497f48211337d0	Nevertheless, the first contact of most of the Ebola infected patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as @DISEASE$, hemorrhagic syndrome, typhoid or other gastrointestinal diseases, @PHENOTYPICFEATURE$ and vomiting.	false
+a0d1b642af0fd79ef791d2d74a3e7485489f2097	Nevertheless, the first contact of most of the Ebola infected patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as malaria, hemorrhagic syndrome, typhoid or other gastrointestinal diseases, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e5428f2bdfd48c9cf7ce7427d21b62197ad41fb1	Nevertheless, the first contact of most of the @DISEASE$ infected patients is with the THPs since the symptoms are similar to those of common traditionally treated diseases or symptoms such as malaria, hemorrhagic syndrome, typhoid or other gastrointestinal diseases, @PHENOTYPICFEATURE$ and vomiting.	false
+f22c058dc75f2dd307bf3c1ad7782850efa92d9c	A meticulous assessment of @DISEASE$ patients with a serious condition had one or more central nervous system (CNS) abnormalities, such as sudden headache, @PHENOTYPICFEATURE$, confusion, meningismus, and convulsions, which is necessary for diagnosing and giving timely treatment to improve the prognosis.	has_symptom
+c0cf53be789bee616250f27789d0717453757194	On March 21, 2014, the Guinea Ministry of Health reported the outbreak of an illness characterized by fever, severe diarrhea, @PHENOTYPICFEATURE$ and a high fatality rate (59%), leading to the first known epidemic of @DISEASE$ (Ebola) in West Africa and the largest and longest Ebola epidemic in history.	has_symptom
+336f973acdb3136c94ea22dbb78b24dccc83aea9	On March 21, 2014, the Guinea Ministry of Health reported the outbreak of an illness characterized by @PHENOTYPICFEATURE$, severe diarrhea, vomiting and a high fatality rate (59%), leading to the first known epidemic of @DISEASE$ (Ebola) in West Africa and the largest and longest Ebola epidemic in history.	false
+be331fa4bfe16ccee0c7a66f9e927c5d2ebed06e	On March 21, 2014, the Guinea Ministry of Health reported the outbreak of an illness characterized by @PHENOTYPICFEATURE$, severe diarrhea, @DISEASE$ and a high fatality rate (59%), leading to the first known epidemic of Ebola virus disease (Ebola) in West Africa and the largest and longest Ebola epidemic in history.	false
+3948bbc9621900be500127569a441bd5375e46dc	On March 21, 2014, the Guinea Ministry of Health reported the outbreak of an illness characterized by @PHENOTYPICFEATURE$, severe @DISEASE$, vomiting and a high fatality rate (59%), leading to the first known epidemic of Ebola virus disease (Ebola) in West Africa and the largest and longest Ebola epidemic in history.	false
+e3b5049f816213912a50972a0b96293a4b2f6dd9	@DISEASE$ (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic hyperkeratosis and @PHENOTYPICFEATURE$.	has_symptom
+139eda1f002c8b987ff35bf7fd6ba31892ee17fc	@DISEASE$ (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic @PHENOTYPICFEATURE$ and palmoplantar keratoderma.	false
+26ce247e620ea3d5ee894a50634c7c49e5f6c796	Epidermolytic hyperkeratosis (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+382c75b871889bca82c0598177612796499c0fe0	Darier's disease, @PHENOTYPICFEATURE$, Oudtshoorn disease, lamellar ichthyosis, 'badpak' ichthyosis, @DISEASE$, the 'half-baby' syndrome, exfoliative dermatitis, hair dystrophy and selected precancerous conditions.	has_symptom
+5e1f02da5df693d2c29e0d6b14be87f3aad6cabb	The mutations in the keratin genes expressed in the epidermis are etiologically responsible for several epidermal genetic skin diseases, such as epidermolysis bullosa simplex, @DISEASE$ (EHK), ichthyosis bullosa of Siemens, @PHENOTYPICFEATURE$, pachyonchia congenita and white sponge nevus.	has_symptom
+b76d47c608babc394ce3f11c77ac6a1b75a938f6	The GABA(A) receptor ?2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome @DISEASE$, which includes a spectrum of seizures types from @PHENOTYPICFEATURE$ to Dravet syndrome.	has_symptom
+68c01dae076c27a695189adc67aeea783fa3d0d2	The GABA(A) receptor ?2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome generalized epilepsy with febrile seizures plus, which includes a spectrum of @PHENOTYPICFEATURE$ types from febrile seizures to @DISEASE$.	false
+d4e2e9f6475b8a88e480aec8fd46d79c84aea698	The GABA(A) receptor ?2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome generalized epilepsy with febrile seizures plus, which includes a spectrum of @PHENOTYPICFEATURE$ types from @DISEASE$ to Dravet syndrome.	false
+5f74d15da657b096187183df4d121358b12b30f3	The GABA(A) receptor ?2 subunit nonsense mutation Q351X has been associated with the genetic @DISEASE$ generalized epilepsy with febrile seizures plus, which includes a spectrum of @PHENOTYPICFEATURE$ types from febrile seizures to Dravet syndrome.	false
+418cbdd28bfcceebe73ff59c158ac96dae7cfb50	The GABA(A) receptor ?2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome @DISEASE$, which includes a spectrum of @PHENOTYPICFEATURE$ types from febrile seizures to Dravet syndrome.	false
+787b5babc2ca48d34b5ae957bdc3cad0c98f6ad0	Recently, mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene were identified in two families with @DISEASE$ (GEFS+) and two families with childhood absence epilepsy (CAE) and @PHENOTYPICFEATURE$ (FS).	has_symptom
+d85b8d236a60a707d554b9d8faaa80f62b3a4c1c	The syndrome of @DISEASE$ (GEFS+) is a heterogeneous disorder characterized by @PHENOTYPICFEATURE$ that may persist beyond age 6 years and nonfebrile seizures.	has_symptom
+55e2c6dfe9f72903cf79e752dd9e5e5f07b34a6d	The syndrome of generalized epilepsy with febrile seizures plus (GEFS+) is a heterogeneous disorder characterized by @DISEASE$ that may persist beyond age 6 years and nonfebrile @PHENOTYPICFEATURE$.	false
+2df6d13b7143d8e1dace0aba6720f0a85b91ff3c	The syndrome of @DISEASE$ (GEFS+) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile @PHENOTYPICFEATURE$.	false
+3d0c5a3cb6f84a888c34f212fc88ce0475eb81f8	Familial febrile seizures occur in both @DISEASE$ (GEFS+) and autosomal dominant @PHENOTYPICFEATURE$ (ADFS).	has_symptom
+df588f1117b71edea1d4c3ce6161f703ef21854c	Familial @PHENOTYPICFEATURE$ occur in both @DISEASE$ (GEFS+) and autosomal dominant febrile seizures (ADFS).	has_symptom
+33c84ae35c5fd68ae44fae1690a22af5bd5f142b	Mutations of the voltage-gated sodium (Na(v)) channel subunit SCN1A have been implicated in the pathogenesis of human @PHENOTYPICFEATURE$ including @DISEASE$ (GEFS+) and severe myoclonic epilepsy in infancy (SMEI).	has_symptom
+f8623c45b01e39b6b69f062be9f01d13b81bf14e	Mutations of the voltage-gated sodium (Na(v)) channel subunit SCN1A have been implicated in the pathogenesis of human @DISEASE$ including generalized epilepsy with febrile seizures plus (GEFS+) and severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+a145a0f08abcccd9b7c15c3d60fe24aca2fa1244	Mutations of the voltage-gated sodium (Na(v)) channel subunit SCN1A have been implicated in the pathogenesis of human febrile seizures including @DISEASE$ (GEFS+) and severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+e825d72330712f4629c8a6ce49c879ae881d193f	A possible association between SCN2A R19K polymorphism and @PHENOTYPICFEATURE$ (FS) associated with afebrile seizures including @DISEASE$ (GEFS+) was also noted.	has_symptom
+c66383b1cf6c100d3476d9b23721174d8014af08	A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile @PHENOTYPICFEATURE$ including @DISEASE$ (GEFS+) was also noted.	false
+36d979d6a771bc0f663dcbee88ec83d1eacb3144	A possible association between SCN2A R19K polymorphism and @DISEASE$ (FS) associated with afebrile @PHENOTYPICFEATURE$ including generalized epilepsy with febrile seizures plus (GEFS+) was also noted.	false
+197bda39f40e9d6497d19a64391c63506284efb3	The present study explores whether the PRRT2 mutation is a potential cause of @PHENOTYPICFEATURE$, including febrile seizures plus (FS+), @DISEASE$ (GEFS+) and Dravet syndrome (DS); thus, it may provide a new drug target for personalized medicine for febrile seizure patients.	has_symptom
+2a44653a36f221ea7e1873b47caaed4eb16bc51b	The present study explores whether the PRRT2 mutation is a potential cause of febrile seizures, including febrile seizures plus (FS+), @DISEASE$ (GEFS+) and Dravet syndrome (DS); thus, it may provide a new drug target for personalized medicine for @PHENOTYPICFEATURE$ patients.	has_symptom
+5abdd8a7929aa614bffbf576adc0ced8a2c8bdd0	The present study explores whether the PRRT2 mutation is a potential cause of febrile seizures, including @PHENOTYPICFEATURE$ plus (FS+), @DISEASE$ (GEFS+) and Dravet syndrome (DS); thus, it may provide a new drug target for personalized medicine for febrile seizure patients.	has_symptom
+66941c14ccff4649fd72d54dec9e81c9511c111b	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure @PHENOTYPICFEATURE$ (FS), @DISEASE$ (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).	has_symptom
+3df93551829459dd5dc65c96e2df87eebbb396bf	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), pure @DISEASE$ (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).	false
+77f1f23f3159b01e0766fba57cbef2c688ccc9d2	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic @DISEASE$ including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+b1ccfa3c84154b09ce1c78b82b262ef91c253821	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic @DISEASE$ including childhood absence epilepsy (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).	false
+df4efd9d812db930b41130439d18178121d48f3b	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and @DISEASE$ (DS)/severe myoclonic epilepsy in infancy (SMEI).	false
+efc6e75952c5a8aefbdbd73537f881cb57a6f42f	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and @DISEASE$ (DS)/severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+383d1e34bf21e4c81a6646cfe3af59765528d3ce	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), pure febrile seizures (FS), @DISEASE$ (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).	false
+4ecbebc33a2fc5e57c299143807e84e9482831a2	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), @DISEASE$ (GEFS+), and Dravet syndrome (DS)/severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+2e5d6b3694f488ba3b45df53e73cedb856dd0bdf	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure @DISEASE$ (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+7492fe8d5d065d79971843df0c260f7c7c4751b3	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including @DISEASE$ (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+6833c5dea60e037011810e6821c95df649cf5f7b	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including @DISEASE$ (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).	false
+1a2b03f8043586b526f4e11bdc79dc79a1e8d23d	"Generalized epilepsy with @PHENOTYPICFEATURE$ plus" (@DISEASE$) syndrome has been recently described.	has_symptom
+ad83d8d06ee014b624bd9867b2c456c745c037e5	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe @PHENOTYPICFEATURE$ and no sign of precocious puberty.	has_symptom
+5179d03003be00d90a94c2365099e484e1e2f1e2	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, @PHENOTYPICFEATURE$, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	has_symptom
+edbc23598a5d3adaec10ad21de620674a2624f41	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, @PHENOTYPICFEATURE$, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+a520a3d8f0f09b256ca42f17445d9f24c4e24fa3	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, @DISEASE$, truncal obesity, small hands and feet, @PHENOTYPICFEATURE$, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+477c6937548bb04cfb93cd1cfa4275ff4fbf47c4	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal @DISEASE$, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+ffd460954fe188ab339bca58ba00e764c5edb0d2	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, @PHENOTYPICFEATURE$, and mild facial dysmorphism, but our patient showed more severe @DISEASE$ and no sign of precocious puberty.	false
+13213211deeeacf359a7af646dae959772b6cc54	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+e699e5c143e47e2e7332f71f6fdafadb29ef0272	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal @DISEASE$, small hands and feet, @PHENOTYPICFEATURE$, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+f17e20c56f4b6b02be642d3bd13cd2683a8ace83	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, @DISEASE$, truncal obesity, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+a6e594b44b2920e4c6d7e86681e5ec0ccc401b5c	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe @DISEASE$ and no sign of precocious puberty.	false
+e7c48fe9d34e71b47d89379048d078faeda445b0	@DISEASE$ is a rare but serious cardiac and skeletal myopathy leading to substantial morbidity and early mortality due to @PHENOTYPICFEATURE$ and cardiomyopathy.	has_symptom
+5b7221aaf29f3e75ed0b6d311594643bab78a005	This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused @DISEASE$ comprising severe early-onset @PHENOTYPICFEATURE$ with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient.	has_symptom
+61b7f12dd6ba44bbb2f4901e08d324f683021d0b	We report on a preterm neonate of 30 weeks gestational age who presented with marked @PHENOTYPICFEATURE$ and severe respiratory failure at birth and was diagnosed with @DISEASE$.	has_symptom
+789fefb7d48ffc866da1b95edcac16e8237cfa1a	Although she had some features which were suggestive of @DISEASE$ (RTS), the presence of @PHENOTYPICFEATURE$ at birth, along with acral blistering, was noted to be peculiar to this child.	has_symptom
+95242979d65f9f906936c2827f3b5b09b4c7a932	CHIKV is responsible for induction of @DISEASE$ (CF) and severe joint stiffness with the capability of developing into bilateral and systemic @PHENOTYPICFEATURE$ or even encephalitis.	has_symptom
+ffa7a9b143b4402389fab64ca76c1e881a8428da	Blood samples were collected (in Sodium citrate vacutainer tubes) during 1st June 2009 to 31st May 2010 from children (age 0 ? 18 years) suspected to have @DISEASE$ infection, that is, those who presented with sudden onset of fever and/or @PHENOTYPICFEATURE$, myalgia, and headache from three regions of India, All India Institute of Medical Sciences (AIIMS) in New Delhi, Karnataka Institute of Medical Sciences (KIMS) in Hubli and Sawai Mansingh Medical College (SMS) in Jaipur.	has_symptom
+c2b42a8fc67a4622413dcc1c4e3e0ba9c34dabcd	Blood samples were collected (in Sodium citrate vacutainer tubes) during 1st June 2009 to 31st May 2010 from children (age 0 ? 18 years) suspected to have chikungunya @DISEASE$, that is, those who presented with sudden onset of @PHENOTYPICFEATURE$ and/or joint pain, myalgia, and headache from three regions of India, All India Institute of Medical Sciences (AIIMS) in New Delhi, Karnataka Institute of Medical Sciences (KIMS) in Hubli and Sawai Mansingh Medical College (SMS) in Jaipur.	false
+037f8be8be7c57ba2ca3229e5add2ebd709d08de	Blood samples were collected (in Sodium citrate vacutainer tubes) during 1st June 2009 to 31st May 2010 from children (age 0 ? 18 years) suspected to have chikungunya infection, that is, those who presented with sudden onset of @PHENOTYPICFEATURE$ and/or @DISEASE$, myalgia, and headache from three regions of India, All India Institute of Medical Sciences (AIIMS) in New Delhi, Karnataka Institute of Medical Sciences (KIMS) in Hubli and Sawai Mansingh Medical College (SMS) in Jaipur.	false
+77cbd272d00da6e990697188ae5f39766ac1572d	Blood samples were collected (in Sodium citrate vacutainer tubes) during 1st June 2009 to 31st May 2010 from children (age 0 ? 18 years) suspected to have @DISEASE$ infection, that is, those who presented with sudden onset of @PHENOTYPICFEATURE$ and/or joint pain, myalgia, and headache from three regions of India, All India Institute of Medical Sciences (AIIMS) in New Delhi, Karnataka Institute of Medical Sciences (KIMS) in Hubli and Sawai Mansingh Medical College (SMS) in Jaipur.	false
+d9e7833a26f8d4adf4e8a290a8bb5dec48d5967e	In addition to an increased susceptibility to neuropsychiatric disorders, @PHENOTYPICFEATURE$, and @DISEASE$, the underlying brain dysfunction associated with 22q11.2DS	has_symptom
+9d30d68fe3eb8c0cd4f421ba741854551771f1b8	Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with @DISEASE$ (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable @PHENOTYPICFEATURE$ and tauopathies (MIM 617389).	has_symptom
+5dce4371ede061edb74b07a63050b8702b02f2b6	The main features of the @DISEASE$ include broad flat midface, brachycephaly, broad nasal bridge, @PHENOTYPICFEATURE$, hoarse deep voice, speech and developmental delay, and behavioral anomalies.	has_symptom
+ce305f527f54a1ed1922992addbf8b66de9b4d2b	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @PHENOTYPICFEATURE$) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	has_symptom
+cc73ddff94cb79b82f61161cc9f2f9ec496d27f1	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @DISEASE$) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive @PHENOTYPICFEATURE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+a84e70922ab5b6d044e92ffe18c4ff8d71c277d6	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive @PHENOTYPICFEATURE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+beb22a41006e21d300c57a24f275b2cb6b7aec3f	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @DISEASE$) and craniofacial features, ocular abnormalities, middle ear and @PHENOTYPICFEATURE$ including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+9e50a8490463262b4b3033f16683cc26025c8d83	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and @PHENOTYPICFEATURE$ including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+510d3629154110e361fe7ff2e519d068290691bb	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+b5d66318799c9a28504d1bedf5bf791cd656f23c	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @DISEASE$) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+dfe5808ae79812e2d06a5b2dd680b5935a1da653	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, @PHENOTYPICFEATURE$, speech delay, hoarse deep voice and peripheral neuropathy.	has_symptom
+0a3deb70f1633d3d5576bf91bc695ac7740a5e9f	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, hoarse deep voice and @PHENOTYPICFEATURE$.	false
+2245f8257612b3343352cac5e4685b23984e9120	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, @PHENOTYPICFEATURE$, hoarse deep voice and peripheral neuropathy.	false
+819aa9ba09967c69cd8c11892bf1cae0fd892291	The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, @DISEASE$, speech delay, hoarse deep voice and @PHENOTYPICFEATURE$.	false
+19b255210dd30aaa622d4b473bcbbaa0fe6fb54b	The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, @DISEASE$, @PHENOTYPICFEATURE$, hoarse deep voice and peripheral neuropathy.	false
+2d1ecd06e80f6da3261cdf4ba1fb4829f7644665	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	has_symptom
+c297ee45e1b806c9a669402232920d1b334fff7c	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+c9a28fef6c4ba396efe89469065ec35e98fbcc05	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+da8d9b03f8d24ac0e60bee4f6f7dcd27f187edda	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @DISEASE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+0c6210b294c6f0aba952a32072f8ed793008526a	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+44ef2a7125a6f7b0ebab436188cf1ab7ead374a7	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+2aa0752e0dbc02e77ca3bc26576a024d1bcfa7a9	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+91acdc9a143414fc97be4162d72bdd9a4b3384fd	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @DISEASE$, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+632e125063a4bc896aadc1701ac06787d791f9e5	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+306c304248a7db81c96454e02e72e0c90b0fc6ff	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+2be89cd74321931c1586c23c80d8dbb599b1639a	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @DISEASE$, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+9a845db02764d25aa7eda438a9b5dfbc3af8b775	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @DISEASE$, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f5d5e5c997a7ebb8b37458a63145441350106831	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+730adc4df331663a08df1c6422b0fa2f701c2fc8	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+071c298d8f361d393db88ced1412b478c488a571	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f7a8a59c1fb8a656a70ce07083e4c2480c5ff86e	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+6bf53e6c48033558bd483794a90c4363e6025089	McLeod neuroacanthocytosis syndrome (@DISEASE$) is a rare X-linked multisystem disease caused by XK gene mutations and characterized by hematological and @PHENOTYPICFEATURE$.	has_symptom
+9d07f1b77a758d924be195742122c85ebf4a98ec	@DISEASE$ (MLS) is a rare X-linked multisystem disease caused by XK gene mutations and characterized by hematological and @PHENOTYPICFEATURE$.	has_symptom
+7bd662e2941853c405aef238a451e7d831f122ad	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.	has_symptom
+66b370ab46e71a74eec05c12838b537f9152290b	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+ef5203d90fcad8fe9eae08248d3480d7813feaed	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+0ed2c87300feb57691d9e603301deeeaf69a8d88	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and spastic quadriplegia.	false
+ca7a4fc99232b12572e27e20d6685e43b26e205f	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+2300556389302ae16e0b5583148ef7fb0709c889	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+54146138726b3e83b6569eaf00ecf210c8815d83	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @DISEASE$, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+0210e97d50f8a48fa11f7cab025976abf4973d2c	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+5bb8e0dc12650adc86ecb5b0e28b4bfe6312eb2e	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and @DISEASE$.	false
+56c0ad7aee909f460da6b09d704d91e597fbe842	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @DISEASE$, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and spastic quadriplegia.	false
+c839c4ccdc671102ab4ddf27e0d6db598f5fa4cc	This hypothesis was confirmed by a video recording that revealed the administration by the mother of multiple drugs (insulin, glyburide, progesterone, and furosemide) that mimicked most of the features of @DISEASE$, including hirsutism and @PHENOTYPICFEATURE$ with coincident, inappropriately normal c-peptide values due to the administration of the insulin secretagogue.	has_symptom
+a3152681d35ef880c0714a7e3d32d73413f23c78	Vitamin B12 malabsorption in the ileum has been postulated as the underlying cause of the @DISEASE$ comprising megaloblastic anemia, proteinuria, and multiple @PHENOTYPICFEATURE$.	has_symptom
+d23fd3271b29e983bb43089f181048c1403fe415	@DISEASE$ (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to @PHENOTYPICFEATURE$ and the Potter sequence) and ossification defects of the skull.	false
+8a86b256be6af65d820eb3e071852b63da49ae5c	@DISEASE$ (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early @PHENOTYPICFEATURE$ and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull.	false
+a9a01a3f6cdc0024f5d005b1e755cc3befd9aeb7	Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early @PHENOTYPICFEATURE$ and persistent @DISEASE$ (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull.	false
+f15848d28334ca8d12ec174ac08d96578201d759	Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent @DISEASE$ (leading to @PHENOTYPICFEATURE$ and the Potter sequence) and ossification defects of the skull.	false
+5b937a12d75a6df4df6012625bea64b3b211df98	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, @PHENOTYPICFEATURE$ and coma.	has_symptom
+f556c20824ff28e91c3e2ef555071384ffb023e9	Lassa fever, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, @PHENOTYPICFEATURE$, sore-throat, mucosal bleeding, @DISEASE$ and coma.	false
+0905c4adef8f085a3f443a6ecacbbfd4be47c026	Lassa fever, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, @PHENOTYPICFEATURE$, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, @DISEASE$ and coma.	false
+40e8386d3f5ab181f6ab5b2b2ae69f7bd1542664	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, @PHENOTYPICFEATURE$, sore-throat, mucosal bleeding, seizures and coma.	false
+f4920f7d41f1c73ffe0c1be34a161939477b771d	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, @PHENOTYPICFEATURE$, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, seizures and coma.	false
+14fb05c497a6e7dff0e838351d14565fa78b961e	@DISEASE$ (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and @PHENOTYPICFEATURE$.	has_symptom
+33b99a07cbc23d6fc3f578e10f48cce1c4d61b71	Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of @DISEASE$ (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, @PHENOTYPICFEATURE$, peptic ulcer bleeding and defective platelet aggregation.	has_symptom
+0be5584a10594b512bbb39f2c4c11bf41c57f234	ADPKD may be clinically characterized by @PHENOTYPICFEATURE$, hypertension, episodes of gross hematuria, headache, renal stones, aortic and cerebral aneurysms, mitral valve prolapse, and @DISEASE$.	has_symptom
+95f54a51129237f3f70d31e39586eb3e10c84532	@DISEASE$ is commonly asymptomatic but may present with hepatomegaly, abdominal distension, and dull @PHENOTYPICFEATURE$.	has_symptom
+07fae60300c73b2e25e872d76758cda006aeeab3	[@DISEASE$ with @PHENOTYPICFEATURE$ and jaundice treated by two successive "fenestration" procedure (author's transl)].	has_symptom
+43973368b734fcaeeb4eac0c332c7b05906d2e60	A 59-year-old woman with polycystic liver (@DISEASE$) and kidney disease (PCKD) presented with jaundice, fever, and @PHENOTYPICFEATURE$.	has_symptom
+25d67f0f019a18c71e562903f7e363185a9945a5	A 59-year-old woman with polycystic liver (PCLD) and @DISEASE$ (PCKD) presented with jaundice, @PHENOTYPICFEATURE$, and abdominal pain.	false
+ab1f6d78576bc39235f28f0b59ef71e58981d81d	A 59-year-old woman with polycystic liver (PCLD) and kidney disease (PCKD) presented with jaundice, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c6808af59c980714a8afb425f4691c799b0ae884	A 59-year-old woman with polycystic liver (@DISEASE$) and kidney disease (PCKD) presented with jaundice, @PHENOTYPICFEATURE$, and abdominal pain.	false
+e964fcc8c3469a4b060c61e88d5d30c13ea84eca	The main preoperative complaints that related to @DISEASE$ were severe @PHENOTYPICFEATURE$, respiratory distress, clinical ascites, or leg edema.	has_symptom
+03da76dd956a0e8758280cd2207bcb9d79426a63	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with @PHENOTYPICFEATURE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	has_symptom
+5bf8035bbbc92086cebe2da71102934d9ea08a92	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with @DISEASE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @PHENOTYPICFEATURE$ only (EGTCSO).	false
+831da3b1649fcf3223e684e239a44f6edced4f0c	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @PHENOTYPICFEATURE$ only (EGTCSO).	false
+7cb841f9955a892b6a39205c4284fee45ed95269	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+8388b0932ec2ab35ffdcc92da44dc8876e51c288	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with @PHENOTYPICFEATURE$ only (EGTCSO).	false
+f5728e295d8313c9e2327baff1bb696c4a1af69a	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+8ff622a2439d26e7a98c96b06743a15ff57ed3ce	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign myoclonic epilepsy in infancy (BMEI), generalized epilepsies with @DISEASE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+cb108a4a858fc984d738411c4ce47f9eae07abf8	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), @DISEASE$ (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+752f2cade8ff1d9e3ca80d0e814df93da268768a	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI), generalized epilepsies with febrile seizures plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+8a3d8a8f7e04279e43f33972bb8aa6c61ec853fd	According to the International League Against Epilepsy (ILAE) proposed classification, the following IGEs are recognized in accordance with the age at onset (Engel, 2001): benign @PHENOTYPICFEATURE$ epilepsy in infancy (BMEI), generalized epilepsies with @DISEASE$ plus (GEFS+), epilepsy with myoclonic-astatic seizures (EMAS), epilepsy with myoclonic absences (EMA), childhood absence epilepsy (CAE), and IGEs with variable phenotypes (IGEVP) that include juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures only (EGTCSO).	false
+352141921ff90f0de8a7d8c029c8e11ccaae8282	@DISEASE$ (acropectorovertebral syndrome) is a dominantly inherited @PHENOTYPICFEATURE$ affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families.	has_symptom
+6ca6d287094ce2980790fedd7c7d36bba4b6998f	@DISEASE$ and multifocal @PHENOTYPICFEATURE$ were excluded.	has_symptom
+5efbc213211e7190e5da2cbb4c180287d099bcd0	@DISEASE$ were found in 1.7% (95% CI 1.2 to 2.3%), vascular abnormalities in 0.51% (95% CI 0.29 to 0.9%), and intracranial @PHENOTYPICFEATURE$ in 0.47% (95% CI 0.26 to 0.85%) of the applicants.	has_symptom
+13b450058bde1a8133fdb115e4bd50ffe20db67e	Arachnoid cysts were found in 1.7% (95% CI 1.2 to 2.3%), @PHENOTYPICFEATURE$ in 0.51% (95% CI 0.29 to 0.9%), and intracranial @DISEASE$ in 0.47% (95% CI 0.26 to 0.85%) of the applicants.	false
+140b37bbab09029e8e9b6ea3b2947682e7d3da75	@DISEASE$ were found in 1.7% (95% CI 1.2 to 2.3%), @PHENOTYPICFEATURE$ in 0.51% (95% CI 0.29 to 0.9%), and intracranial tumors in 0.47% (95% CI 0.26 to 0.85%) of the applicants.	false
+378c6b9e5e5bafe9caaf6cee542d8bc8044b8053	@DISEASE$ are considered a rare neurological @PHENOTYPICFEATURE$, few of which exhibit any symptomatology.	has_symptom
+378c6b9e5e5bafe9caaf6cee542d8bc8044b8053	@DISEASE$ are considered a rare neurological @PHENOTYPICFEATURE$, few of which exhibit any symptomatology.	has_symptom
+0248c2b2edc682051cd8c406cf1e3c65abbb730e	@DISEASE$, hydatid cysts, primary @PHENOTYPICFEATURE$, and metastases were hypointense except five cystic tumors.	has_symptom
+3079bc08a3b89a1ab13e93d9fe2a1ab6fba02487	Patients with @DISEASE$ (XLA) can present with @PHENOTYPICFEATURE$.	has_symptom
+d6d721282934063c9cc9b77ab4cb3771fc0ba3d6	Eighteen patients (38%), 7 with @DISEASE$ and 11 with common variable immunodeficiency, showed @PHENOTYPICFEATURE$, bilateral in 12 and unilateral in 6.	has_symptom
+a888f6246fb948faac96054bdc0de4082b9d9d1e	@DISEASE$ is a rare primary immunodeficiency characterized by low levels of B lymphocytes and recurrent microbial infections, whereas, Mohr-Tranebjaerg syndrome is a progressive neurodegenerative disorder with early onset of @PHENOTYPICFEATURE$.	has_symptom
+f97998e2f03b7b1a75b08ada9da8b4b9dc6ce6a2	A contiguous deletion syndrome of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ddee6cb58db1b92f0d5b7fb89ab1be309284e7f9	@DISEASE$ (EF) is an uncommon connective tissue disease characterized by abrupt onset of @PHENOTYPICFEATURE$, followed by progressive induration of primarily the distal extremities.	has_symptom
+f445e0547e5e86c3a2c42aa77ea7c7d1b248f355	@DISEASE$ (EF) is a rare connective tissue disease characterized by erythema, @PHENOTYPICFEATURE$ and myalgia with induration and thickening of the skin and soft tissue, especially subcutaneous fascia.	has_symptom
+828e2cb779a874c4a2280ce6dda276dbafce3cf4	@DISEASE$: an uncommon cause of @PHENOTYPICFEATURE$.	has_symptom
+c1708a55db852562f0b26fadf825560b13f4ac0a	@DISEASE$, scleromyxedema, associated gammopathy, and other forms of @PHENOTYPICFEATURE$ and mucin deposition must be excluded on differential diagnosis.	has_symptom
+d3b82aac6a0ac76486d65c4588e9ff0244647acb	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$, painful indurations, and progressive muscle weakness.	has_symptom
+41f21dc9237aa573db24767b81bc00245e991abf	@DISEASE$ (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical tremor or action myoclonus predominantly in the upper limbs, and @PHENOTYPICFEATURE$.	has_symptom
+7a618f91e05034a1008ee8b7a4b8cd146307c9d2	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, @DISEASE$, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	has_symptom
+4634bae4663e025433522b0e39157fce8076c770	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, @DISEASE$, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+5fc6b41c385f26d4b85d56ec3ee588a673a2631a	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken @DISEASE$, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+d8d6db22c18f85d62ffbabed94c8bc7d12d34359	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, @DISEASE$, and probably familial juvenile nephronophthisis.	false
+2582deb6f8bb71aa4ecd4fdb5839925ce8992a7d	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including @DISEASE$, Arima syndrome, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+c4fba058a4edc0c867e2afa3dbb9a6babd0ab623	We conclude that (a) @DISEASE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+3b64fb815c8f03bdb28991d8712a7b5f7230ce0e	A patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and @PHENOTYPICFEATURE$, a phenotype typical of @DISEASE$.	has_symptom
+2927990a9e4527ae780fc48b26209a1ebc5c1f2a	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	has_symptom
+a075e2bc7cca8d7f6e4f2870520b833a5687adaf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	has_symptom
+c93575ccd26e39dcc16ed61fa33ddf65d4f51066	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+2fe26134fad0ad747389be037596af32b90ed0d5	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+5bd1aed380c90d14d5daca66ae14109aa58b0583	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+78acb418c55333c6e8112f539abf9a3c7e87a840	Review of this disorder and related syndromes suggests that (1) @DISEASE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+6616ac2a0d3d21e328b873bf43deb6dadd0af607	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+671bbefee159d599855b96290a768f2ca8ed70cf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+6a79dc1f275628f681a3af9ccbf8ee7f73100fd7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+9006021f84f84860deda7916622730b47b2bced0	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+f870fd04de78d06add068417e7db8a8712cb3681	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+e1fa568406c7797d4fbe2f05897f522bea878bf4	Review of this disorder and related syndromes suggests that (1) @DISEASE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+cb751882805d6a0b4558f7b14308e9c5943a96c8	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+3e452cdb734185744d9dd7f37251c554dcd79111	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis @DISEASE$; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+aa71b2d034a185a7a89b119634e36f033ffb0953	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+4f6defabfd31188afb481019406d4a6d98676c96	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @DISEASE$, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+4ac957e6f5ea5210bd25d76d5f0d27df4ff4b6d7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+140abe077350e9f02272c08260b6a9b9f363efcb	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; @DISEASE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+4d32f990b1236718b3b4dbbc124e54c78238a64e	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to @DISEASE$ such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+9aae0ce9b340b2505bf1e7799e73b9dc3ed771a6	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in @DISEASE$ is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+93a94b9425c7ba076f0fc30f4b519f0746319c78	[Familial hypoplastic @PHENOTYPICFEATURE$, Fanconi type (@DISEASE$)].	has_symptom
+0cc65cac39bc1c533858db14418bb754f097520d	@DISEASE$, an inherited disorder characterized by bone marrow aplasia, peripheral @PHENOTYPICFEATURE$, and multiple congenital defects, has a association with certain types of malignancies.	has_symptom
+6837492a6c6c0236f4c43a88665498ff9f88f992	[@DISEASE$ and radial aplasia-@PHENOTYPICFEATURE$].	has_symptom
+ed4f16afd0c65ee26ce31114897a280b70f24f84	@DISEASE$ commonly affects the central nervous system (CNS), primarily as mental retardation, @PHENOTYPICFEATURE$, and stroke.	has_symptom
+a860fc0a9cd1a1a0aa7f5fe6e26762071958ef4a	Homocystinuria commonly affects the central nervous system (CNS), primarily as @PHENOTYPICFEATURE$, @DISEASE$, and stroke.	false
+8e23859af8383b56b43b5243ac832530eac5c5d5	@DISEASE$ commonly affects the central nervous system (CNS), primarily as @PHENOTYPICFEATURE$, seizures, and stroke.	false
+7a89b5d1c319bdd884fb175e58d1dbb1c865408b	The implication of these results to the study of the mechanism of homocysteine-induced @PHENOTYPICFEATURE$ and their relevance to the genetic disorder @DISEASE$ is discussed.	has_symptom
+96ee1d0ee791e518df7dedc1f270638a4daab535	A deficiency of CBS causes @DISEASE$ (MIM 236200), one of the most prevalent inborn errors, characterized by mental retardation, @PHENOTYPICFEATURE$, psychiatric disturbances, skeletal abnormalities and vascular disorders.	has_symptom
+959747b93b8633a719a6255c50a7277c04556113	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn errors, characterized by @PHENOTYPICFEATURE$, @DISEASE$, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+6e3d3e738422c8e16aa79c2f6db001940a27ea53	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn errors, characterized by mental retardation, seizures, psychiatric disturbances, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+66f5832e865e0ae86659c7204a47f269f79a1cf5	A deficiency of CBS causes @DISEASE$ (MIM 236200), one of the most prevalent inborn errors, characterized by mental retardation, seizures, psychiatric disturbances, @PHENOTYPICFEATURE$ and vascular disorders.	false
+64e4adc7ccf8d89ae38e3cb49d0aa825a4287bd3	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn errors, characterized by @PHENOTYPICFEATURE$, seizures, psychiatric disturbances, skeletal abnormalities and @DISEASE$.	false
+727b23775919d3d1462e2e15f632535ddfb11ee8	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by @PHENOTYPICFEATURE$, seizures, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+4adafa06f6aee6b8a48cec85881f97af90ad149e	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn errors, characterized by mental retardation, @DISEASE$, psychiatric disturbances, @PHENOTYPICFEATURE$ and vascular disorders.	false
+127a9bf6f33c224a732c08c1f75d206c6a785984	A deficiency of CBS causes @DISEASE$ (MIM 236200), one of the most prevalent inborn errors, characterized by @PHENOTYPICFEATURE$, seizures, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+b69d07f89d0123fd632821184145135bfbe93c79	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by mental retardation, seizures, psychiatric disturbances, @PHENOTYPICFEATURE$ and vascular disorders.	false
+ca68234fc354dac3f8edd29ec5c772b42923a497	The major clinical manifestations of @DISEASE$ are mental retardation, @PHENOTYPICFEATURE$, ectopia lentis, skeletal deformities and occlusive vascular disease.	has_symptom
+25cc429ac01d7b755a1095eff6060129ccbe200c	The major clinical manifestations of homocystinuria are @PHENOTYPICFEATURE$, @DISEASE$, ectopia lentis, skeletal deformities and occlusive vascular disease.	false
+879f486bf60adad73249ef6f647b1a5f3418f507	The major clinical manifestations of @DISEASE$ are @PHENOTYPICFEATURE$, seizures, ectopia lentis, skeletal deformities and occlusive vascular disease.	false
+4e94fb8a13485b5aa34eb991719b764852e07213	The major clinical manifestations of homocystinuria are @PHENOTYPICFEATURE$, seizures, @DISEASE$, skeletal deformities and occlusive vascular disease.	false
+a4d7e8d6778b0ac3938bd2ba65fba16f140cf066	The major clinical manifestations of homocystinuria are @PHENOTYPICFEATURE$, seizures, ectopia lentis, skeletal deformities and occlusive @DISEASE$.	false
+0e881ca1da33249eedaeee1547119262147b9024	We report findings on a child presenting with neonatal @DISEASE$, hypomethioninaemia and severe neurological symptoms, including developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+de5251543e5888559ee92c469d2ba79e485acfd8	Epilepsy and EEG abnormalities are prominent features in the early-onset type of combined methylmalonic aciduria and @DISEASE$ due to Cbl C/D deficiency, possibly related to the pathologically and persistently high levels of homocysteine, experimentally proven to induce @PHENOTYPICFEATURE$.	has_symptom
+33cbf8e8d883a5e01f7db8d09246ab40fdd33baf	Systemic administration of homocysteine can trigger seizures in animals, and patients with @DISEASE$ suffer from @PHENOTYPICFEATURE$.	has_symptom
+0a016b6588e94fd650afc618f2e2a335a5b92a9f	Systemic administration of homocysteine can trigger @PHENOTYPICFEATURE$ in animals, and patients with @DISEASE$ suffer from epileptic seizures.	has_symptom
+115ff8ad6e2ae83ae6aa39c71935aa8360e34f87	@DISEASE$ in patients with a positive family history, developmental delays, or regression, refractory, or recurrent @PHENOTYPICFEATURE$ should take precedence over other causes.	has_symptom
+fc3d57e2bf13ac858487648ccc9489135fb12cc8	Folic acid responsive rages, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2a0b753081a1385d3db545a8424424abced73da8	Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) with @DISEASE$ can result in early demise or later-onset neurological impairment, including developmental delay, motor dysfunction, and @PHENOTYPICFEATURE$.	has_symptom
+50d559de7bf1003680f578e55ddcf390b4f0d586	@DISEASE$ (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+c5f78d4828c4f5001e0cd679eeabb460a0ce7672	@DISEASE$ (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and @PHENOTYPICFEATURE$.	false
+3213a4132630ad9b834b15b497a6b5dfa78275d6	@DISEASE$ (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and @PHENOTYPICFEATURE$, short stature and intellectual disability.	false
+a8c957f0f010b74752bdd0eefe0eaa8185a60520	Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive @DISEASE$, comprising facial and @PHENOTYPICFEATURE$, short stature and intellectual disability.	false
+360c68edd9a9e25c79cb3ddb3af67a11eb54391c	Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive @DISEASE$, comprising facial and skeletal abnormalities, short stature and @PHENOTYPICFEATURE$.	false
+a9d37f3bdb5d22a72f059d2ad511c8c6ee2160bb	Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising @DISEASE$ and skeletal abnormalities, short stature and @PHENOTYPICFEATURE$.	false
+e90d92ae6165827680c7c1d4f78dea21a7730726	Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising @DISEASE$ and @PHENOTYPICFEATURE$, short stature and intellectual disability.	false
+5942c810cca8e0a84e835328a1ebc116c3e37138	Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0eb1b50884b4c435048ee8a611169455f192624a	Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and @PHENOTYPICFEATURE$, @DISEASE$ and intellectual disability.	false
+ddba2bbd9560172abc5bced1088d28a222c52fb1	@DISEASE$ (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscles weakness, myotonia, and @PHENOTYPICFEATURE$.	has_symptom
+307f92a99102e56bc4abc529e51f45322eeff626	Early onset posterior subscapular @PHENOTYPICFEATURE$ in a series of @DISEASE$ patients.	has_symptom
+d245a4e3dcf3d7b5f9134fcc523578c231e085a7	A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and @PHENOTYPICFEATURE$ compatible with the syndrome of @DISEASE$, is reported.	has_symptom
+13832c5bd085663ec4214bb8b13b894bb94179e8	Myotonic dystrophy type 1 and @DISEASE$ are both characterized by progressive muscle weakness, early-onset @PHENOTYPICFEATURE$, and myotonia.	has_symptom
+d51ccb9512fd9e70955e0e60d6173de4290f4f62	@DISEASE$: a new dominant disorder with myotonia, muscle weakness, and @PHENOTYPICFEATURE$.	has_symptom
+634da3f6ee10204ccf7e26c889493d39991efcfe	@DISEASE$: a new dominant disorder with myotonia, @PHENOTYPICFEATURE$, and cataracts.	false
+46451f8f18c1f51959bf5e885a95fff79da8bb17	Proximal myotonic myopathy: a new dominant disorder with myotonia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2de4ba1d80721e9ad62980333c80b3d0b9a180c2	@DISEASE$ (PROMM) is an autosomal dominant muscle disorder characterized by proximal weakness, myotonia, muscle pain and @PHENOTYPICFEATURE$.	has_symptom
+af658d7831743c53afc24ca6f3b30794b6c7756c	@DISEASE$ (DM2) is a rare, autosomal dominant, multisystem disorder with proximal weakness, myotonia, pain and @PHENOTYPICFEATURE$ as important symptoms.	has_symptom
+6afe9571cb7027134c33e9b3569da8d44b346ec7	@DISEASE$ is a recently described autosomal dominant condition characterized by proximal myopathy, @PHENOTYPICFEATURE$, intermittent myotonia, and myalgia.	has_symptom
+c944d321b1b51902fc556b402e4808017f1af2fb	@DISEASE$ (PROMM) is an autosomal dominantly inherited multisystemic disorder characterized by myotonia, proximal muscle weakness, and @PHENOTYPICFEATURE$.	has_symptom
+72b5d38fd1295949593f5bcb9e494fe88f24d078	PurposeEarly onset posterior subscapular @PHENOTYPICFEATURE$ (<50 years of age) is a characteristic feature of @DISEASE$ (DM2).	has_symptom
+38f7beb493f0c3a41bc742f67b1f43d0787d825b	Metastatic @PHENOTYPICFEATURE$ accompanying @DISEASE$.	has_symptom
+386ddb84fbbf29c8b0f455f02d1b62a3488fb9ae	PDE3A gene screening improves diagnostics for patients with @DISEASE$ (hypertension and @PHENOTYPICFEATURE$).	has_symptom
+9790c6f07c7f288afc2499f7de6399b54fd99977	Hypertension and @PHENOTYPICFEATURE$ (HTNB), also called @DISEASE$, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a short stature, brachydactyly, and death from stroke before the age of 50 years when untreated.	has_symptom
+603094d4faa03de24eca37017aa7bd47e9c07071	Hypertension and brachydactyly syndrome (HTNB), also called @DISEASE$, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a short stature, @PHENOTYPICFEATURE$, and death from stroke before the age of 50 years when untreated.	has_symptom
+daf81fc6ddd5696008cefcbc873822d4008fcfd9	Hypertension and brachydactyly syndrome (HTNB), also called @DISEASE$, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a @PHENOTYPICFEATURE$, brachydactyly, and death from stroke before the age of 50 years when untreated.	false
+f7679b8026deab5331c212c5e1408c6e84e2288d	Hypertension and brachydactyly syndrome (HTNB), also called Bilginturan syndrome, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a @PHENOTYPICFEATURE$, @DISEASE$, and death from stroke before the age of 50 years when untreated.	false
+e3201a57b8edb14e28accc93b0f5f8f2ce81fb07	Hypertension and @DISEASE$ (HTNB), also called Bilginturan syndrome, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a @PHENOTYPICFEATURE$, brachydactyly, and death from stroke before the age of 50 years when untreated.	false
+368977c782e766ac89097d5bcd6ad66b93a6031e	A fourth form, the @DISEASE$ is associated with @PHENOTYPICFEATURE$ and resembles essential hypertension.	has_symptom
+2b723e3432406034e0c60bdc241200bed91ee21b	Autosomal-dominant hypertension and @PHENOTYPICFEATURE$ (HTNB; @DISEASE$) is known to cause stroke before age 50 when untreated.	has_symptom
+8e23859af8383b56b43b5243ac832530eac5c5d5	@DISEASE$ commonly affects the central nervous system (CNS), primarily as @PHENOTYPICFEATURE$, seizures, and stroke.	has_symptom
+ed4f16afd0c65ee26ce31114897a280b70f24f84	@DISEASE$ commonly affects the central nervous system (CNS), primarily as mental retardation, @PHENOTYPICFEATURE$, and stroke.	false
+aed3c8a7fc8f51ca34de059d9590e4ce31da3989	Homocystinuria commonly affects the central nervous system (CNS), primarily as @DISEASE$, @PHENOTYPICFEATURE$, and stroke.	false
+879f486bf60adad73249ef6f647b1a5f3418f507	The major clinical manifestations of @DISEASE$ are @PHENOTYPICFEATURE$, seizures, ectopia lentis, skeletal deformities and occlusive vascular disease.	has_symptom
+74537120f3cccc4fa6a9a1c601acfc09a47cf177	The major clinical manifestations of homocystinuria are mental retardation, @PHENOTYPICFEATURE$, ectopia lentis, skeletal deformities and occlusive @DISEASE$.	false
+60772702561180f79890ffcf00642b55223b936c	The major clinical manifestations of homocystinuria are mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, skeletal deformities and occlusive vascular disease.	false
+b78890ed925b0ebf781a11ef30d437d7311841da	The major clinical manifestations of homocystinuria are @DISEASE$, @PHENOTYPICFEATURE$, ectopia lentis, skeletal deformities and occlusive vascular disease.	false
+ca68234fc354dac3f8edd29ec5c772b42923a497	The major clinical manifestations of @DISEASE$ are mental retardation, @PHENOTYPICFEATURE$, ectopia lentis, skeletal deformities and occlusive vascular disease.	false
+0ae7f8156374ab0b5a9e7a9f935a6a4bf19c61f5	@DISEASE$ should be considered in the differential diagnosis of unexplained neuropsychiatric disorders in patients who have past or family history of homocystinuria, @PHENOTYPICFEATURE$, thromboembolic episodes, vascular diseases or clinical and laboratory features resembling folate and/or vitamin B12 deficiencies.	has_symptom
+fd61135373631f80662440c6ee86ab46aecde04f	Homocystinuria should be considered in the differential diagnosis of unexplained neuropsychiatric disorders in patients who have past or family history of @DISEASE$, @PHENOTYPICFEATURE$, thromboembolic episodes, vascular diseases or clinical and laboratory features resembling folate and/or vitamin B12 deficiencies.	has_symptom
+1c9108f65d6db0e19f50e3f2fe7ea8ef3f575abb	A young child with @DISEASE$ is discussed, who presented with behavioral abnormalities, involuntary movement, @PHENOTYPICFEATURE$, and decreased vision since birth.	has_symptom
+7e4006c0a3f04adb0d28ada71e7d823c16c6b45c	A young child with @DISEASE$ is discussed, who presented with @PHENOTYPICFEATURE$, involuntary movement, mental retardation, and decreased vision since birth.	false
+8cca0dd007ccb68a08a87f30ee8c894eff7a4d64	A young child with homocystinuria is discussed, who presented with @PHENOTYPICFEATURE$, involuntary movement, @DISEASE$, and decreased vision since birth.	false
+45ede35e13c3929b18064d7996bff51c1870ee81	@DISEASE$ is an inborn error of metabolism characterized by plasma homocysteine levels up to 500??M, premature vascular events and @PHENOTYPICFEATURE$.	has_symptom
+06d05f093b8104b0534bba3b0379607a176dc6c2	A patient with @DISEASE$, @PHENOTYPICFEATURE$, and episodic psychosis is described and this case is used to point to the difficulties in making a definite psychiatric diagnosis in these patients.	has_symptom
+d63011a986d766d4cee2159e88f081576423d714	@DISEASE$ is frequently associated with severe multisystem involvement such as dislocated lenses, skeletal deformities, @PHENOTYPICFEATURE$ and premature vascular occlusions.	has_symptom
+b431829ba0e327aaa327b0fd03f6f6e9554c061b	@DISEASE$ (HC) is an inborn error of amino acid metabolism characterized by ectopia lentis, @PHENOTYPICFEATURE$, and skeletal abnormalities.	has_symptom
+65dd008c9d8538da77d164acea873726f7ce3918	Homocystinuria (HC) is an @DISEASE$ characterized by ectopia lentis, mental retardation, and @PHENOTYPICFEATURE$.	false
+8694b0fe32db93f3ad4ede45b1f0b735f70e4915	Homocystinuria (HC) is an inborn error of amino acid metabolism characterized by ectopia lentis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+026eea1d128f2bcc83fa9935139f33ff9f47490f	@DISEASE$ (HC) is an inborn error of amino acid metabolism characterized by ectopia lentis, mental retardation, and @PHENOTYPICFEATURE$.	false
+5e1a23d0bf3d64611092ce703dcd96b43034b28f	Homocystinuria (HC) is an inborn error of amino acid metabolism characterized by @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+50967ca7842a7db2f32c67168fdc6cd94700e49e	Pathogenic mutations in CBS result in CBS-deficient @DISEASE$ (HCU) which, if untreated, results in @PHENOTYPICFEATURE$, thromboembolic complications and connective tissue disorders.	has_symptom
+9f571914e85c16e3ee4d80add663e002ab1af561	@DISEASE$ usually presents with ectopia lentis, @PHENOTYPICFEATURE$, thromboembolic complications, and skeletal abnormalities.	has_symptom
+2945703c063548f19abc5f4f08f322339e581d5e	Homocystinuria usually presents with @DISEASE$, mental retardation, thromboembolic complications, and @PHENOTYPICFEATURE$.	false
+5592aa4d1fb400b501e7e83cae097cad4728f05c	Homocystinuria usually presents with ectopia lentis, @DISEASE$, thromboembolic complications, and @PHENOTYPICFEATURE$.	false
+2918f349eb9af5dbe06090cad82c34f267ddf5c7	@DISEASE$ usually presents with ectopia lentis, mental retardation, thromboembolic complications, and @PHENOTYPICFEATURE$.	false
+08a125d24803cd231bfa07bdfddf74304afde575	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, vomiting, @PHENOTYPICFEATURE$, and hemorrhage.	has_symptom
+ebd57987898556518063a1a3a4fcd803873196f5	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, @PHENOTYPICFEATURE$, abdominal pain, and hemorrhage.	false
+4e8c19ccd105abb6aea66bfdd2891846b0cf1ab0	Symptoms of @DISEASE$ can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, diarrhea, vomiting, abdominal pain, and hemorrhage.	false
+44829ef4908ac815fef621f3622e3ef7c70c1daf	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, @DISEASE$, @PHENOTYPICFEATURE$, abdominal pain, and hemorrhage.	false
+cd42afdd794ffb84c96e54272ea498538fd65924	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, @DISEASE$, vomiting, abdominal pain, and hemorrhage.	false
+031a85c658fd531fbd9e688fc702a4fd7658bcb1	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, @PHENOTYPICFEATURE$, fatigue, diarrhea, vomiting, @DISEASE$, and hemorrhage.	false
+6a82d8e60c1dfae82edafee7135fc0135847d49e	Symptoms of Ebola virus disease can include severe headache, myalgia, asthenia, fever, fatigue, diarrhea, @PHENOTYPICFEATURE$, @DISEASE$, and hemorrhage.	false
+2fc4b50e290361e8e8693ea2d0f35ff94864ffa9	In the wake of the international @DISEASE$ (EVD) outbreak from 2014 to 2016, thousands of EVD survivors are at-risk of ophthalmic manifestations, as well as systemic sequelae including arthralgias, @PHENOTYPICFEATURE$, psychosocial stressors, and risk of viral persistence in immune-privileged organs.	has_symptom
+add7134f7ee13f6cff0b6aec8e46ef857eccbc10	Logistic regression analysis identified 6 variables independently predictive of laboratory-confirmed @DISEASE$, including sick contact, diarrhea, loss of appetite, muscle pains, difficulty swallowing, and absence of @PHENOTYPICFEATURE$.	has_symptom
+30ab5feceee8fab0088c65c34ae205c6d65c0262	The overlap of early @DISEASE$ (EVD) symptoms (eg, fever, headache, @PHENOTYPICFEATURE$, diarrhea, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, malaria, typhoid fever, pneumonia, and meningococcemia) may result in delayed diagnosis of EVD before isolation of infected patients.	has_symptom
+6fa92fe0014b7f096a00a7a71adec03f2607115f	The overlap of early Ebola virus disease (EVD) symptoms (eg, @PHENOTYPICFEATURE$, headache, @DISEASE$, diarrhea, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, malaria, typhoid fever, pneumonia, and meningococcemia) may result in delayed diagnosis of EVD before isolation of infected patients.	false
+8291631b9f1db2b1be2c544c6d8595e6e01207c7	The overlap of early @DISEASE$ (EVD) symptoms (eg, @PHENOTYPICFEATURE$, headache, abdominal pain, diarrhea, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, malaria, typhoid fever, pneumonia, and meningococcemia) may result in delayed diagnosis of EVD before isolation of infected patients.	false
+a1ceb8d219a457357b7d72e4b3fe6581244d7057	The overlap of early Ebola virus disease (EVD) symptoms (eg, @PHENOTYPICFEATURE$, headache, abdominal pain, diarrhea, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, malaria, typhoid fever, @DISEASE$, and meningococcemia) may result in delayed diagnosis of EVD before isolation of infected patients.	false
+536ae04ddc18c266e73afcc2d691b54ca814853e	The overlap of early Ebola virus disease (EVD) symptoms (eg, @PHENOTYPICFEATURE$, headache, abdominal pain, diarrhea, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, malaria, typhoid fever, pneumonia, and @DISEASE$) may result in delayed diagnosis of EVD before isolation of infected patients.	false
+1339d29e665b1f2aa9852989d32b645fa8c36466	The overlap of early Ebola virus disease (EVD) symptoms (eg, @PHENOTYPICFEATURE$, headache, abdominal pain, diarrhea, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, @DISEASE$, typhoid fever, pneumonia, and meningococcemia) may result in delayed diagnosis of EVD before isolation of infected patients.	false
+6214a11ce5fb768439ecf6563d3f79e4717c2ade	The overlap of early Ebola virus disease (EVD) symptoms (eg, @PHENOTYPICFEATURE$, headache, abdominal pain, @DISEASE$, emesis, and fatigue) with symptoms of other more common travel-related diseases (eg, malaria, typhoid fever, pneumonia, and meningococcemia) may result in delayed diagnosis of EVD before isolation of infected patients.	false
+fcb376c19401c76d760904c921b2e6b59b0cf840	Clinical features of renal @DISEASE$ include proteinuria, with or without @PHENOTYPICFEATURE$, and an association with dysproteinemias.	has_symptom
+3a2324d3adb524a47c698741042cee3ba3812d0a	Monoclonal immunoglobulin deposition disease (@DISEASE$) is characterized by the deposition of amorphous non-congophilic materials predominantly in the kidneys leading to nephrotic syndrome or @PHENOTYPICFEATURE$.	has_symptom
+4785ce6b137b99c45bffc183f7d6d166ee1d40b2	When @PHENOTYPICFEATURE$ is associated with @DISEASE$ or amyloidosis, renal function recovery is reduced to 10%, and patient survival is related to the entity of extrarenal tissue distribution of paraprotein deposits.	has_symptom
+c09cd9e568bea1279da766def779bc6ea5cea71c	A 6 1/2-month-old girl is described, in whom the diagnosis of @DISEASE$ in the pre-anemic stage was made on the basis of the following findings: growth failure, microcephaly, modest @PHENOTYPICFEATURE$, pigment spots, and chromosomal breaks.	has_symptom
+9efaaeacd80db3f4fed5181573a8c958ef697dd7	A 6 1/2-month-old girl is described, in whom the diagnosis of @DISEASE$ in the pre-anemic stage was made on the basis of the following findings: growth failure, @PHENOTYPICFEATURE$, modest epicanthal folds, pigment spots, and chromosomal breaks.	false
+9676110d113d5c7a4cd4e0a7d2fabe1375c02ada	A 6 1/2-month-old girl is described, in whom the diagnosis of Fanconi's anemia in the pre-anemic stage was made on the basis of the following findings: growth failure, @PHENOTYPICFEATURE$, modest @DISEASE$, pigment spots, and chromosomal breaks.	false
+b0781db6727e16e39acbd6286f84f69a571c3e02	Bi-allelic mutations in THOC6 have been associated to @DISEASE$ (BBIS), a syndromic form of @PHENOTYPICFEATURE$ (ID).	has_symptom
+09e5ad2ca8d55b2bf325eafdf15462609f67257f	@DISEASE$: an @PHENOTYPICFEATURE$ syndrome with characteristic facies.	has_symptom
+4f84ea71a7e72003e5b45699f675ce1d81c37583	THOC6 is a newly described causal gene for an autosomal recessive @PHENOTYPICFEATURE$ (ID) - @DISEASE$ (BBIS) (OMIM # 613680).	has_symptom
+28d388a0996e70fdd1a308d2fed17a40f1bc8fba	Few homozygous or compound heterozygous variants have been identified in the THOC6 gene in patients with a syndromic form of @PHENOTYPICFEATURE$ [@DISEASE$ (BBIS); MIM: 613680].	has_symptom
+6401e50f93eebcdd0eb3b69b3d79ce74f5da94cb	We describe two patients with Pallister-Hall syndrome (@DISEASE$), both with evidence of a generalized @PHENOTYPICFEATURE$ as typified by upper and lower acromesomelic limb shortening and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	has_symptom
+bd6db97fc3511a846cd303d522a74f3a90fc0393	We describe two patients with @DISEASE$ (PHS), both with evidence of a generalized @PHENOTYPICFEATURE$ as typified by upper and lower acromesomelic limb shortening and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	has_symptom
+6f31ef48e97dfbcc1b9c910449284660e7c857cb	We describe two patients with Pallister-Hall syndrome (PHS), both with evidence of a generalized @DISEASE$ as typified by upper and lower acromesomelic @PHENOTYPICFEATURE$ and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	false
+33f667fc2c107e51c50c84c609aaef19cabd565e	We describe two patients with Pallister-Hall syndrome (@DISEASE$), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic @PHENOTYPICFEATURE$ and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	false
+c023bb026c825e07a3c9b2d123fa8e037c6c54bb	We describe two patients with @DISEASE$ (PHS), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic @PHENOTYPICFEATURE$ and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	false
+fb1c97476beb4121856162c64494b0bd5da6bf19	To avoid anxiety, unnecessary diagnostic procedures and surgery @DISEASE$ should be always be considered in the case of an intramuscular tumour associated with concurrent @PHENOTYPICFEATURE$.	has_symptom
+aa59ea9e65016ba7b90f1a8d10ca3100c3f0789d	To avoid @DISEASE$, unnecessary diagnostic procedures and surgery Mazabraud syndrome should be always be considered in the case of an intramuscular @PHENOTYPICFEATURE$ associated with concurrent skeletal abnormalities.	false
+171515689e524c5673f01e19be80059c647ebacc	To avoid anxiety, unnecessary diagnostic procedures and surgery @DISEASE$ should be always be considered in the case of an intramuscular @PHENOTYPICFEATURE$ associated with concurrent skeletal abnormalities.	false
+fe6416ba2a2709c6688a5c8d0a5bbc49a24443d4	To avoid anxiety, unnecessary diagnostic procedures and surgery Mazabraud syndrome should be always be considered in the case of an intramuscular @PHENOTYPICFEATURE$ associated with concurrent @DISEASE$.	false
+16fe2aefe37523481074c8aa9901cbf20b9c7de7	Although we initially suspected a malignancy of the thigh with diffuse skeletal metastases, this proved to be a benign myxoma which, together with the @PHENOTYPICFEATURE$, corresponded with a diagnosis of @DISEASE$.	has_symptom
+3e56057addac1b9b5304e3f41746c40d99b399cf	@DISEASE$, microcephaly, aganglionosis, and @PHENOTYPICFEATURE$.	has_symptom
+bdd7478a7c2f9a2ce062882d2755fb3cfd4c0604	Multicore myopathy, @PHENOTYPICFEATURE$, aganglionosis, and @DISEASE$.	false
+3dbb491312cfb13bf8aab4591a4ce1216b7ad817	@DISEASE$, @PHENOTYPICFEATURE$, aganglionosis, and short stature.	false
+dad66ca575ec04ce2b9550cd39d6c2c4c2a39860	@DISEASE$ in sibs with severe mental retardation, @PHENOTYPICFEATURE$, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.	has_symptom
+5d74b0812fe0055f5eb70686fe0038231343b014	Multicore disease in sibs with severe mental retardation, short stature, @DISEASE$ anomalies, hypoplasia of the pituitary fossa, and @PHENOTYPICFEATURE$.	false
+917ffa16d46127a753a78aec65d9897ae4d45b63	Multicore disease in sibs with severe mental retardation, @DISEASE$, facial anomalies, hypoplasia of the pituitary fossa, and @PHENOTYPICFEATURE$.	false
+8c9bd00a4c2bee54c19fa7d30e8cee6ace16d7e2	Multicore disease in sibs with @PHENOTYPICFEATURE$, short stature, facial anomalies, hypoplasia of the @DISEASE$ fossa, and hypogonadotrophic hypogonadism.	false
+3bcf233bfeef6a04c373da244cb6915a671da3dc	Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the @DISEASE$ fossa, and @PHENOTYPICFEATURE$.	false
+277d680150dd875262a24480e31ace50b709479a	Multicore disease in sibs with @PHENOTYPICFEATURE$, short stature, @DISEASE$ anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.	false
+cafa70b13a630cb648c8ec7b471ece1ffc0ee295	@DISEASE$ in sibs with @PHENOTYPICFEATURE$, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.	false
+481cc0c2ca8e8b825b8c31b20f2ae2556b0f191b	Multicore disease in sibs with @PHENOTYPICFEATURE$, @DISEASE$, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.	false
+5c5b1766d2e21bee10ea683f723fdbc0e131faaa	@DISEASE$ in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and @PHENOTYPICFEATURE$.	false
+428993082348652f486a26f23d8dd6218ade8a17	Hyp mice, the murine homolog of human X-linked hypophosphatemia (@DISEASE$), are characterized in part by elevated renal loss of phosphate (Pi) and @PHENOTYPICFEATURE$.	has_symptom
+d95007121285a972e30eaa5dc251345af4666537	Hyp mice, the murine homolog of human @DISEASE$ (XLH), are characterized in part by elevated renal loss of phosphate (Pi) and @PHENOTYPICFEATURE$.	has_symptom
+01b2c042376ca4cb53abe499b88b13eab21d141a	X-linked hypophosphatemia (@DISEASE$) is characterized clinically by rickets, @PHENOTYPICFEATURE$, and hyperphosphaturia.	has_symptom
+5f0d6dc59b5368f5b6559af4955ef8db8ccc10b9	@DISEASE$ (XLH) is characterized clinically by rickets, @PHENOTYPICFEATURE$, and hyperphosphaturia.	has_symptom
+39e6c5ff22d622932ba367fb2e8b76a5fd0ac4bd	X-linked dominant @PHENOTYPICFEATURE$ (@DISEASE$) is the most prevalent form of inherited rickets/osteomalacia in humans.	has_symptom
+50e2af225bc32da3d6718c8d540534863c66cc95	Human hypophophatemic vitamin D-resistant rickets (X-linked hypophosphatemia-@DISEASE$) is characterized by @PHENOTYPICFEATURE$, a decreased tubular reabsorption of phosphate (P(i)) and defective skeleton mineralization.	has_symptom
+07bf8efcbb3f15a24f60c281d847f118f8607796	Human hypophophatemic vitamin D-resistant rickets (@DISEASE$-XLH) is characterized by @PHENOTYPICFEATURE$, a decreased tubular reabsorption of phosphate (P(i)) and defective skeleton mineralization.	has_symptom
+7b3292787910454cefb85152475a47f13c240bdf	Several hereditary disorders of isolated phosphate wasting have been described, including X-linked hypophosphataemic rickets (@DISEASE$), @PHENOTYPICFEATURE$ bone disease (HBD), hereditary hypophosphataemic rickets with hypercalciuria (HHRH) and autosomal dominant hypophosphataemic rickets (ADHR).	has_symptom
+8d26b95e5765d25e0b05a9186c353a3d593d9b67	Several hereditary disorders of isolated phosphate wasting have been described, including X-linked hypophosphataemic rickets (@DISEASE$), hypophosphataemic bone disease (HBD), hereditary hypophosphataemic rickets with hypercalciuria (HHRH) and autosomal dominant @PHENOTYPICFEATURE$ rickets (ADHR).	has_symptom
+cffcb904fd9d9ff31a253fb8d7f66cb8a568153e	@DISEASE$ (XLH) is characterized clinically by rickets, @PHENOTYPICFEATURE$ and hyperphosphaturia.	has_symptom
+90ee03ccd2921e463ad3b02dad869153244a6bb2	X-linked hypophosphatemia (@DISEASE$) is characterized clinically by rickets, @PHENOTYPICFEATURE$ and hyperphosphaturia.	has_symptom
+68ed6c9db440c3d3bdb7afd6f03f85043e4e16e2	X-linked hypophosphatemic rickets (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ and growth retardation.	has_symptom
+900072799049a8e051d6a5b188f086819f575d5b	X-linked hypophosphatemic rickets (@DISEASE$) is characterized by hypophosphatemia and @PHENOTYPICFEATURE$.	false
+000309a1baaa9bb3ef399c4c802005e5fca7d12e	X-linked hypophosphatemic rickets (XLH) is characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9fca98d7ecd312169e85148cfbcaf2cca1605448	X-linked hypophosphatemia (@DISEASE$) is the most common form of heritable rickets characterized by X-linked dominant inheritance, renal phosphate wasting, @PHENOTYPICFEATURE$, and defective bone mineralization.	has_symptom
+4b861652c4a0563f3eb1ff04247c0217419daf8f	@DISEASE$ (XLH) is the most common form of heritable rickets characterized by X-linked dominant inheritance, renal phosphate wasting, @PHENOTYPICFEATURE$, and defective bone mineralization.	has_symptom
+aa87cd0198a49381fc2de05f9614274cb55b045b	X-linked hypophosphatemia (@DISEASE$) is a dento-osseous disorder caused by inactivating mutations in the PHEX gene, leading to renal phosphate wasting and @PHENOTYPICFEATURE$, and impaired mineralization of bones and teeth.	has_symptom
+e79900717cce17dfd1541fc6a5714a2b22a14774	@DISEASE$ (XLH) is a dento-osseous disorder caused by inactivating mutations in the PHEX gene, leading to renal phosphate wasting and @PHENOTYPICFEATURE$, and impaired mineralization of bones and teeth.	has_symptom
+ee52dbbaf5b6b67870fc6445a7db8f2749bed036	@DISEASE$ (XLH) is characterized by high circulating levels of FGF23 but, in contrast to CKD, is associated with @PHENOTYPICFEATURE$.	has_symptom
+5d529595b5af699d026efc129b663e5d6378b838	X-linked hypophosphatemia (@DISEASE$) is characterized by high circulating levels of FGF23 but, in contrast to CKD, is associated with @PHENOTYPICFEATURE$.	has_symptom
+e2ca7328135ecaa40b97ec3daeb05ab0c12aab3b	@DISEASE$ (FFS) is comprised of @PHENOTYPICFEATURE$, micrognathia, short or absent femora, and vertebral and genitourinary malformations.	has_symptom
+855e264817794ff3d499924b412561783c38862b	Femoral facial syndrome (@DISEASE$) is comprised of @PHENOTYPICFEATURE$, micrognathia, short or absent femora, and vertebral and genitourinary malformations.	has_symptom
+c61e61ec13174d3ac4769810d8da06e22084abaa	Femoral facial syndrome (FFS) is comprised of @DISEASE$, @PHENOTYPICFEATURE$, short or absent femora, and vertebral and genitourinary malformations.	false
+b115528a1f82c06169ef872cf17971278c19e4af	@DISEASE$ (FFS) is comprised of cleft palate, @PHENOTYPICFEATURE$, short or absent femora, and vertebral and genitourinary malformations.	false
+7f7160cffbb9c00b57ef2f68b2f98305f0b4751d	Femoral facial syndrome (@DISEASE$) is comprised of cleft palate, @PHENOTYPICFEATURE$, short or absent femora, and vertebral and genitourinary malformations.	false
+8c4e3fc45fa4e72562b430dcd2faf118cc1de62c	At birth, a @PHENOTYPICFEATURE$ and the characteristic facial appearance confirmed the diagnosis of the @DISEASE$.	has_symptom
+f6eb639d07c275cb6183663d045dfb1c2081507e	Femoral-facial syndrome (@DISEASE$, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	has_symptom
+fa01f7bc539dc0241377e4b46019f4d5c0985877	@DISEASE$ (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	has_symptom
+e8aa0d7c7f2060724be58d84666469238982e224	@DISEASE$ (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	false
+97f60c8a599ad8859c7f8cd0402da4acd4072ff6	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual @DISEASE$, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	false
+56677bbee7a33cb0f221281eb37d0958eeab13ce	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal @DISEASE$, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	false
+203ac211dbb3637f80eb091267185ce307aadfbf	Femoral-facial syndrome (@DISEASE$, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	false
+8c512d54ffc53cb34df5821d5ffe6fc2fece917d	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic @DISEASE$ associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	false
+d83dd9dbb0ebc05c1ec93e71ae7b57ad9fc1c7d9	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, @DISEASE$, and other minor dysmorphisms.	false
+705a8cecf98b647cfdbc396c5be6ea7038fa8722	The @DISEASE$ is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe @PHENOTYPICFEATURE$, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death.	has_symptom
+861806905cf9da2e6e1e456672d19569f9487d93	The Yunis-Varon syndrome is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe @DISEASE$, @PHENOTYPICFEATURE$, prenatal and postnatal growth deficiency, and neonatal death.	false
+fa2667e7692525719c0346c9aad79511056ca8e0	The @DISEASE$ is a rare hereditary disorder with ectodermal and @PHENOTYPICFEATURE$ that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death.	false
+72e241e4ec26b7462a183efff656a259906ac668	The @DISEASE$ is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, @PHENOTYPICFEATURE$, prenatal and postnatal growth deficiency, and neonatal death.	false
+23e9bb2fb2a3c194d14b70b5dca46a5ae13f15e1	The Yunis-Varon syndrome is a rare hereditary disorder with ectodermal and @PHENOTYPICFEATURE$ that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe @DISEASE$, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death.	false
+7e43b3ab58bc122cdad3c035cc1dd3fe0a448a5c	The typical CT findings of @DISEASE$ (dysplastic gangliocytoma of the cerebellum) are a hypodense nonenhancing unilateral posterior fossa mass, with or without adjacent occipital thinning, @PHENOTYPICFEATURE$, and calcification.	has_symptom
+6edcf6e6d45fd9e89145ed703fb01efdf0d0a245	The typical CT findings of Lhermitte-Duclos disease (@DISEASE$) are a hypodense nonenhancing unilateral posterior fossa mass, with or without adjacent occipital thinning, @PHENOTYPICFEATURE$, and calcification.	has_symptom
+25a31d49dbf2ab86254cba25d4b6ca514430c41a	We present an operative video of a surgical resection of a symptomatic @DISEASE$ in a 44-yr-old male patient who presented with a 3-mo history of progressive headaches and @PHENOTYPICFEATURE$.	has_symptom
+07f377afe5743f0338d37a190c59efec7dbab37f	A case of Lhermitte-Duclos disease (@DISEASE$) in a 54-year-old female leading to local compressive symptoms and obstructive @PHENOTYPICFEATURE$ is presented.	has_symptom
+b8ceb26d45fbdcab34ccfd9ca0185726aab0704c	A case of @DISEASE$ (LDD) in a 54-year-old female leading to local compressive symptoms and obstructive @PHENOTYPICFEATURE$ is presented.	has_symptom
+405e125f9e7fb4e9c5cfd73079c6f36911f6cb3a	We describe the case of a patient with @DISEASE$ who developed secondary obstructive @PHENOTYPICFEATURE$.	has_symptom
+949034808dc792d445e337f8288b24f76c93da5d	@DISEASE$ is commonly associated with progressive mass effects in the posterior fossa and typically presents with headaches, cerebellar dysfunction, occlusive @PHENOTYPICFEATURE$ and cranial nerve palsies.	has_symptom
+18f10be78a47766ffa1308a5cd80368ed8cb4a39	@DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+d4642f5b0d098d468fa0513a0cf6a1271d9533fe	Local @PHENOTYPICFEATURE$: a novel presentation of @DISEASE$ in a 30-year-old Iranian woman.	has_symptom
+2cf23a6b8441318767095c146e5ab0dc3df13b63	@PHENOTYPICFEATURE$ @DISEASE$: a novel presentation of subcutaneous panniculitis-like T-cell lymphoma in a 30-year-old Iranian woman.	false
+4e88ab983b49901bfd957d9227998effdc1032c7	@PHENOTYPICFEATURE$ facial edema: a novel presentation of @DISEASE$ in a 30-year-old Iranian woman.	false
+1f7b216f28dd568a3ed3395a2a17cc4ed1704593	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, seizures).	has_symptom
+cc0b4689059557b5df901a9a8d138efdff34b587	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @PHENOTYPICFEATURE$, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures).	has_symptom
+c6eb778c6af47d7d6d984db06a67f18e38529ef5	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @DISEASE$, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, seizures).	false
+8d3a39c3fd2626a8de505bce3d47dfa048ad718a	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (@DISEASE$, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, seizures).	false
+61237ba85c8be6a12b06bd13e62a2aeb137514ba	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (@DISEASE$, onychodystrophy, osteodystrophy, mental retardation, @PHENOTYPICFEATURE$).	false
+0c94c41e5ab6eb24c30093a66b2717c20c43bd78	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, @PHENOTYPICFEATURE$).	false
+9e3d2fd5766c470acfebcf51b03cb5550d093285	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, seizures).	false
+84f93f6db14aaf90b474ca25843f9e19880ba819	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @DISEASE$, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, @PHENOTYPICFEATURE$).	false
+ad81851e6b0b4db099bdba599c7067b0e7cebf1e	@DISEASE$ (@PHENOTYPICFEATURE$, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.	has_symptom
+06900c32d270b8140344b2ad1fcdbf3e2471eac1	DOOR syndrome (@DISEASE$, onycho-osteodystrophy, and @PHENOTYPICFEATURE$): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.	false
+7e0beec6e84e67ea9de16e79202107a4c89e6166	@DISEASE$ (deafness, onycho-osteodystrophy, and @PHENOTYPICFEATURE$): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.	false
+d138362f6fcbe5006bc8e2578497869a9586d25a	Recent studies have shown that recessive mutations in the TBC1D24 gene cause a variety of epilepsy syndromes, @DISEASE$ and nonsyndromic @PHENOTYPICFEATURE$.	has_symptom
+a5eadbb0ae94942fb47ee36f4a30fd79d200704c	@DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature.	has_symptom
+4ced163a129c9a7cf81cf1d5863101ea2886d0f6	@DISEASE$ (deafness, onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$) is a rarely described disorder with less than 35 reports in the literature.	false
+781123f189d039fc67f122c758af10b83e5422e8	DOOR syndrome (@DISEASE$, onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$) is a rarely described disorder with less than 35 reports in the literature.	false
+051339266afefc45e38c3bb94372c39de6bc2aba	@DISEASE$ is a rare multisystem genetic disorder, consisting of @PHENOTYPICFEATURE$ (sensorineural), onychodystrophy, osteodystrophy, and mental retardation.	has_symptom
+10237e248e86158a24d37b49d4021e64f265d822	@DISEASE$ is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$.	false
+ed8c1fc99339c1ee1852e220d963173b9b197bdd	DOOR syndrome is a rare multisystem @DISEASE$, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$.	false
+b9a3d445e897feb9fd3bef83a6a36ddc270b6079	DOOR syndrome is a rare multisystem genetic disorder, consisting of @DISEASE$ (sensorineural), onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$.	false
+1883f50f6838f01502473bb8a5b1d58e7c401a13	Thus, individuals with @DISEASE$ without @PHENOTYPICFEATURE$ and seizures but with the other features should still be screened for TBC1D24 mutations.	has_symptom
+ea16a7719ba3becf743cab05d2e851a839ad013b	Thus, individuals with @DISEASE$ without deafness and @PHENOTYPICFEATURE$ but with the other features should still be screened for TBC1D24 mutations.	false
+89f02b2210694dff3d0e12dc99474763d81cf575	Thus, individuals with DOORS syndrome without @DISEASE$ and @PHENOTYPICFEATURE$ but with the other features should still be screened for TBC1D24 mutations.	false
+0c520a3096a56554f626c6c4765912d4c005e736	Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic @PHENOTYPICFEATURE$ @DISEASE$ and nonsyndromic hearing impairment DFNB86.	has_symptom
+afa53c4040365e871700141f1de1944f5618e4e7	Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic hearing impairment @DISEASE$ and nonsyndromic @PHENOTYPICFEATURE$ DFNB86.	has_symptom
+19bbb2cefc9e619c3303273ab6932905e1c4d869	Of the 18 individuals with @DISEASE$ from 17 families without TBC1D24 mutations, eight did not have seizures and three did not have @PHENOTYPICFEATURE$.	has_symptom
+1d1d27ac44927c0209364aac05d7eaea1a1847cf	Of the 18 individuals with DOORS syndrome from 17 families without TBC1D24 mutations, eight did not have @PHENOTYPICFEATURE$ and three did not have @DISEASE$.	false
+f1521098acd6dfba700e8bfc5eb9e6430c450b47	Of the 18 individuals with @DISEASE$ from 17 families without TBC1D24 mutations, eight did not have @PHENOTYPICFEATURE$ and three did not have deafness.	false
+aeedfd84c4bc63e57124acd18d21d355430a3b3d	We describe three further children with the @DISEASE$ (@PHENOTYPICFEATURE$, onycho-osteodystrophy and mental retardation).	has_symptom
+16809ad856f6adbb650fb182f51bc6ee4a1e9bab	We describe three further children with the @DISEASE$ (deafness, onycho-osteodystrophy and @PHENOTYPICFEATURE$).	false
+c5d51a691dbc0e2cdfdb0ae27253ee00a6f495cb	We describe three further children with the DOOR syndrome (@DISEASE$, onycho-osteodystrophy and @PHENOTYPICFEATURE$).	false
+5fd9461f5d3a483be44fdb2885f78ef56b56b4b4	@DISEASE$ (@PHENOTYPICFEATURE$, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.	has_symptom
+2c75beb8b37be9a08d29a324bc7fd341081e3eed	@DISEASE$ (deafness, onycho-osteodystrophy, and @PHENOTYPICFEATURE$): a new patient and delineation of neurologic variability among recessive cases.	false
+1592ddaa3ed9c83c40144a6047c5f199d87b38a3	DOOR syndrome (@DISEASE$, onycho-osteodystrophy, and @PHENOTYPICFEATURE$): a new patient and delineation of neurologic variability among recessive cases.	false
+0b3c5570a87292b62437c9141b99bd6d56772d21	Recently, disruption of DYRK1A has been found in @DISEASE$ (MRD7), resulting in severe @PHENOTYPICFEATURE$.	has_symptom
+f3dadde29ee22a116eac07abd86bca89adcb40dd	@DISEASE$ (FHS) is a rare condition characterized by dysmorphic facial features, @PHENOTYPICFEATURE$, and expressive language delay.	has_symptom
+8e6aa6523ebb4b2d0bea88f1075a83d6056155e5	@DISEASE$ (FHS) is characterized by characteristic facial dysmorphism, @PHENOTYPICFEATURE$ with delayed bone age, and expressive language delay.	has_symptom
+28150f45980b6cc820f7442585a2e106d27fefea	@DISEASE$ (FHS) is characterized by characteristic facial dysmorphism, short stature with @PHENOTYPICFEATURE$, and expressive language delay.	false
+dfc0adbc526d5b5005181595c3fac104efc860b1	Floating-Harbor syndrome (FHS) is characterized by characteristic @PHENOTYPICFEATURE$, @DISEASE$ with delayed bone age, and expressive language delay.	false
+a378713427d0670221f51570810ed6f1b01ff197	@DISEASE$ (FHS) is characterized by characteristic @PHENOTYPICFEATURE$, short stature with delayed bone age, and expressive language delay.	false
+396816a5ece1dbd04feda829e7072a9f73e0228b	Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, @DISEASE$ with @PHENOTYPICFEATURE$, and expressive language delay.	false
+7530f6be4bb08b5c59e7baf4b1c7ca5b0507a37d	A triad of main features characterizes @DISEASE$: @PHENOTYPICFEATURE$, characteristic face, and an expressive speech delay.	has_symptom
+444a88e8ee3510153c29dae0b782a6919cc9b50d	A triad of main features characterizes Floating-Harbor syndrome: @DISEASE$, characteristic face, and an expressive @PHENOTYPICFEATURE$.	false
+d95a9a9ea6a702494e9a0efde42bf6ef6f808a85	A triad of main features characterizes @DISEASE$: short stature, characteristic face, and an expressive @PHENOTYPICFEATURE$.	false
+b2b49619dc7e0f17d167c4906621563d7934928a	@DISEASE$ (FHS) is a rare condition typified by @PHENOTYPICFEATURE$, speech impairment, delayed bone age, and characteristic facies.	has_symptom
+f82b1a71d958130fd57b52a79a9f1fc5c26e59e7	@DISEASE$ (FHS) is a rare condition typified by short stature, @PHENOTYPICFEATURE$, delayed bone age, and characteristic facies.	false
+d272a41685a8ac3c81be104aab8dc108a95cc234	Floating-Harbor syndrome (FHS) is a rare condition typified by @DISEASE$, @PHENOTYPICFEATURE$, delayed bone age, and characteristic facies.	false
+86df89bef266e8cec8752d5d700648e450fb2b12	Floating-Harbor syndrome (FHS) is a rare condition typified by @DISEASE$, speech impairment, @PHENOTYPICFEATURE$, and characteristic facies.	false
+e9ba4644fadacd642c836a085197a144192e2b1b	@DISEASE$ (FHS) is a rare condition typified by short stature, speech impairment, @PHENOTYPICFEATURE$, and characteristic facies.	false
+ae3591cb7943bed057e41469c1cb9410d05bec03	@DISEASE$ (FHS) is a rare condition characterized by @PHENOTYPICFEATURE$, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance.	has_symptom
+e083cb2babf6acb9860fd6f8405b70cab2d9a658	@DISEASE$ (FHS) is a rare condition characterized by @PHENOTYPICFEATURE$, delays in expressive language, and a distinctive facial appearance.	has_symptom
+f74b03d12375e0f963b9d2810640f807e2c48318	@DISEASE$ is a rare condition marked by @PHENOTYPICFEATURE$ and delayed bone age, characteristic facial features, and speech impairment.	has_symptom
+a07926469d9e280bf160903e0536a1c029b5a05f	@DISEASE$ is a rare condition marked by short stature and @PHENOTYPICFEATURE$, characteristic facial features, and speech impairment.	false
+6843f78cfa51045b9ad1244f22721fcc42b5cdb3	@DISEASE$ is a rare condition marked by short stature and delayed bone age, characteristic facial features, and @PHENOTYPICFEATURE$.	false
+49f99fa35ab090c9aa7dfc439ea787102e7846bc	Floating-Harbor syndrome is a rare condition marked by @DISEASE$ and delayed bone age, characteristic facial features, and @PHENOTYPICFEATURE$.	false
+bd6b0aff1a6f71813ae06f7fbae415535b009681	Floating-Harbor syndrome is a rare condition marked by @DISEASE$ and @PHENOTYPICFEATURE$, characteristic facial features, and speech impairment.	false
+156ab4f85ee20b44ea3caabd1325377c1e088ae6	@DISEASE$ (FHS) is a rare genetic condition characterized by distinct facial features, @PHENOTYPICFEATURE$ and delayed skeletal development.	has_symptom
+6fb653309c1aef5ea6e09fb5a237c24052168863	@DISEASE$ (FHS) is a rare genetic condition characterized by distinct facial features, short stature and @PHENOTYPICFEATURE$.	false
+df9ac663d5553946b252c79428aa14b2e62fcfdf	Floating-Harbor syndrome (FHS) is a rare genetic condition characterized by distinct facial features, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+66301605df1bf04e2ee21af87cc84a0f3c989a02	@DISEASE$ (FHS) is a rare syndromic @PHENOTYPICFEATURE$ disorder caused by truncating variants in SRCAP.	has_symptom
+a8d38365f25102a5e27c309ee82c4b58725f0ed1	A unique association of @PHENOTYPICFEATURE$, dysmorphic features, and speech impairment (@DISEASE$).	has_symptom
+b9c232b969e81e0e692e262d4cf002300823b20b	A unique association of @DISEASE$, dysmorphic features, and @PHENOTYPICFEATURE$ (Floating-Harbor syndrome).	false
+1178cc501e17d7455c7aab762a9bc4f55d0d00f4	A unique association of short stature, dysmorphic features, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+6a65d7a7e446f2ff572652c95fabf4365f81fc5e	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. @DISEASE$ is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+28182cadcca84037fcadf89ff45992be4da34815	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+be0a44fda375ce8dc790c8bbdeebe9970912eebf	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture @DISEASE$, hearing impairment and @PHENOTYPICFEATURE$.	false
+ef1ae2681d97f94f55fc4b6f948fd604f68505bf	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. @DISEASE$ is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, hearing impairment and @PHENOTYPICFEATURE$.	false
+4c68af8fa5bfef7ec53f529896573fa5b7d7b6ad	The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with @PHENOTYPICFEATURE$, size at birth, type I diabetes, polycystic ovary syndrome, overgrowth in @DISEASE$ and possibly hypertension.	has_symptom
+55b32b7f62ed39b7a4dc4febc65d36eda8e2fc3a	The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with @DISEASE$, size at birth, type I diabetes, polycystic ovary syndrome, @PHENOTYPICFEATURE$ in Beckwith-Wiedemann syndrome and possibly hypertension.	false
+3e502866377d47f3bd9392be1a0428deca00d7a6	The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with obesity, size at birth, type I diabetes, @DISEASE$, @PHENOTYPICFEATURE$ in Beckwith-Wiedemann syndrome and possibly hypertension.	false
+a8626568d215150e64ffccc9a091f48c5824439c	The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with obesity, size at birth, type I diabetes, polycystic ovary syndrome, @PHENOTYPICFEATURE$ in @DISEASE$ and possibly hypertension.	false
+ff8f86a0f8de5ef984687328a3fc1b4cff9a3c68	The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with obesity, size at birth, @DISEASE$, polycystic ovary syndrome, @PHENOTYPICFEATURE$ in Beckwith-Wiedemann syndrome and possibly hypertension.	false
+17cd0f2d637aa7649bf4e7af39cb8ca8dc6a991a	Specific examples of pediatric diseases with a known or suspected epigenetic component include @DISEASE$, childhood leukemia, allergies, asthma, fetal alcohol spectrum disorders, childhood @PHENOTYPICFEATURE$, and type 2 diabetes mellitus.	has_symptom
+0114666120ede6ff95d108a1688112172e01293c	The patient had features of @DISEASE$ including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, @PHENOTYPICFEATURE$, and kyphoscoliosis.	has_symptom
+8490966f49408ff949278897814d5019858b70ea	The patient had features of @DISEASE$ including @PHENOTYPICFEATURE$, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, microcephaly, and kyphoscoliosis.	false
+359a8dd4b4cb640670909edf7095da8016be6428	The patient had features of Coffin-Lowry syndrome including @PHENOTYPICFEATURE$, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, @DISEASE$, and kyphoscoliosis.	false
+f72f9975e6ed9ee1b34e11ec0bfc0fa0be8e0736	The patient had features of @DISEASE$ including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, @PHENOTYPICFEATURE$, microcephaly, and kyphoscoliosis.	false
+ad189c38f4faa49644df56c0e984c6ff58fb35bf	The patient had features of Coffin-Lowry syndrome including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, @PHENOTYPICFEATURE$, @DISEASE$, and kyphoscoliosis.	false
+20dae32cb190bd7aefcc4bfadf3b184da7eeb075	A 6 year-old, and a 3 year-old boy both had distinct clinical features of @DISEASE$; severe mental and motor retardation, @PHENOTYPICFEATURE$, prominent forehead, hypertelorism, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.	has_symptom
+4a2194d1c3f737a73768c7965794067b3f1cc621	A 6 year-old, and a 3 year-old boy both had distinct clinical features of @DISEASE$; severe mental and motor retardation, microcephaly, prominent forehead, @PHENOTYPICFEATURE$, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.	false
+48a0e5467ecad21159c7b5911afee8692ccb1b4c	A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, @DISEASE$, prominent forehead, @PHENOTYPICFEATURE$, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.	false
+b14276ed2e15ff3cc84af1d48df1ca26b18947cc	Their phenotype is similar to the phenotype observed in autosomal recessive @DISEASE$ except for the presence of @PHENOTYPICFEATURE$ in all affected individuals.	has_symptom
+a6b4e9f367520ebf9664d4df23005459f88e4d7b	In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with @DISEASE$, our child did not show any @PHENOTYPICFEATURE$.	has_symptom
+226c75a678effd11cb1748d3756b21368fc873ae	Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der @DISEASE$ as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained @PHENOTYPICFEATURE$ and/or syndromic autism.	has_symptom
+7df0711a9a84fd64236454cbe9526e8da066baeb	Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der @DISEASE$ as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic @PHENOTYPICFEATURE$.	false
+58d8ab47d2d4043e669c90cd6d311d67a8ff96e5	Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or @DISEASE$ @PHENOTYPICFEATURE$.	false
+95057132040d4935c94fa1e053bb9a546d99c24f	Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel-van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained @DISEASE$ and/or syndromic @PHENOTYPICFEATURE$.	false
+a2a3a1ea5ca0e3fc6ad44ada48f01553770f63ae	@DISEASE$ is a rare disorder characterized by a linear hyperostosis of cortical bone, @PHENOTYPICFEATURE$, stiffness, deformity, and limited motion.	has_symptom
+bc04016ad7a437d5673c53e3ed237500efdc81b0	@DISEASE$ is a rare disorder characterized by a linear @PHENOTYPICFEATURE$ of cortical bone, joint pain, stiffness, deformity, and limited motion.	false
+737d8428a63287fbcc7d0f06ea3d905579131d0a	Melorheostosis is a rare disorder characterized by a linear @PHENOTYPICFEATURE$ of cortical bone, @DISEASE$, stiffness, deformity, and limited motion.	false
+cb8894a2d7941e4b0c9195be4873591e515d6e31	Myogenic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2f9dac9c91d7fb8c6d9abb475bd03f9e98ef0a9d	Occult, life-threatening, cardial @PHENOTYPICFEATURE$ in syndactylism in @DISEASE$.	has_symptom
+039ce1427380eada5a78ad2d83e852555a67b5a0	Nevoid basal cell carcinoma syndrome (@DISEASE$) is a predisposition to a rare @PHENOTYPICFEATURE$ type with a variable phenotype.	has_symptom
+853932847c5b09419953fe0ad07aff9ac1a212f4	@DISEASE$ (NBCCS) is a predisposition to a rare @PHENOTYPICFEATURE$ type with a variable phenotype.	has_symptom
+0394a6b963ffc512850cb49b492926326c184e2e	The @DISEASE$ (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other @PHENOTYPICFEATURE$, and developmental abnormalities.	has_symptom
+ff9bd6f7ddfa911c75b6115156551774da45c89e	The nevoid basal cell carcinoma syndrome (@DISEASE$) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other @PHENOTYPICFEATURE$, and developmental abnormalities.	has_symptom
+2d789005b25a8da38e5537fcc7e45a1ecf63a84c	The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by @DISEASE$ (BCCs), pits of the palms and soles, jaw keratocysts, a variety of other @PHENOTYPICFEATURE$, and developmental abnormalities.	has_symptom
+c371fd0dbc9e43bb4567d3dd9976e86614b4c80d	Basal cell nevus syndrome (BCNS; @DISEASE$) is an autosomal dominant disorder, characterized by a predisposition to @PHENOTYPICFEATURE$ and developmental abnormalities.	has_symptom
+6e4cbda0e1369d8f1c59412cb4bbccc0867c0791	@DISEASE$ (BCNS; Gorlin syndrome) is an autosomal dominant disorder, characterized by a predisposition to @PHENOTYPICFEATURE$ and developmental abnormalities.	has_symptom
+435e7a3dee83939413709db14ca86190ff1f165a	The occurrence of keratocystic odontogenic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+04f54069f00e6b61c0ec4f46e35bd0de3cd5b04b	Keratocystic odontogenic tumours (KOCTs) are common benign cystic @PHENOTYPICFEATURE$ that arise sporadically or associated with nevoid basal cell carcinoma syndrome (@DISEASE$).	has_symptom
+78fc7ae04385c85b3fb4ad8ab9192848bc61f23d	Keratocystic odontogenic @PHENOTYPICFEATURE$ (KOCTs) are common benign cystic tumours that arise sporadically or associated with @DISEASE$ (NBCCS).	has_symptom
+69f2ebbf0d418f8550d4f9d86c2d473e199000a3	Keratocystic odontogenic tumours (KOCTs) are common benign cystic @PHENOTYPICFEATURE$ that arise sporadically or associated with @DISEASE$ (NBCCS).	has_symptom
+3a21045df42a6aeb6ce4516c53bd888f43a02977	Keratocystic odontogenic @PHENOTYPICFEATURE$ (KOCTs) are common benign cystic tumours that arise sporadically or associated with nevoid basal cell carcinoma syndrome (@DISEASE$).	has_symptom
+6b465883b09c013fc03ae8027f3a92153bc6257c	@DISEASE$ (NBCCS) is an autosomal dominant disorder characterized by a predisposition to @PHENOTYPICFEATURE$ and developmental abnormalities.	has_symptom
+bfff482919de8d63bceff4ee5220ec19f658c4af	Nevoid basal cell carcinoma syndrome (@DISEASE$) is an autosomal dominant disorder characterized by a predisposition to @PHENOTYPICFEATURE$ and developmental abnormalities.	has_symptom
+df3f2befd49c72e57e2e5b3a0feb9606d2c1fa4e	The basal cell nevus syndrome (Gorlin-Goltz syndrome) characterized by @DISEASE$, odontogenic cysts, skeletal abnormalities and associated @PHENOTYPICFEATURE$ belongs to the group of genodermatoses.	has_symptom
+06811a38c192e9fdd217bf5389d32a4a3454c516	The @DISEASE$ (Gorlin-Goltz syndrome) characterized by multiple basal cell carcinomas, odontogenic cysts, skeletal abnormalities and associated @PHENOTYPICFEATURE$ belongs to the group of genodermatoses.	has_symptom
+8c5b30d422b0cb9428528a288249f2409909dda1	The basal cell nevus syndrome (@DISEASE$) characterized by multiple basal cell carcinomas, odontogenic cysts, skeletal abnormalities and associated @PHENOTYPICFEATURE$ belongs to the group of genodermatoses.	has_symptom
+3caf7b935e75d8a42880487da95ff240cecc14fd	The basal cell nevus syndrome (Gorlin-Goltz syndrome) characterized by @DISEASE$, odontogenic cysts, @PHENOTYPICFEATURE$ and associated neoplasms belongs to the group of genodermatoses.	false
+8cb965150d3bec7ce199c9dd21b85dde3a4fc899	The @DISEASE$ (Gorlin-Goltz syndrome) characterized by multiple basal cell carcinomas, odontogenic cysts, @PHENOTYPICFEATURE$ and associated neoplasms belongs to the group of genodermatoses.	false
+890e2b3e76cce4030cf50d271dfe2a85864ca68a	The basal cell nevus syndrome (Gorlin-Goltz syndrome) characterized by multiple basal cell carcinomas, odontogenic cysts, @PHENOTYPICFEATURE$ and associated @DISEASE$ belongs to the group of genodermatoses.	false
+93448e743204f24ff7f16c850404fb50437e8e80	The basal cell nevus syndrome (@DISEASE$) characterized by multiple basal cell carcinomas, odontogenic cysts, @PHENOTYPICFEATURE$ and associated neoplasms belongs to the group of genodermatoses.	false
+50db58a78ee644eb8a8d01b551f653fd3b722ea9	Keratocystic odontogenic tumor (KCOT) is a benign @PHENOTYPICFEATURE$ that arises sporadically or associated with @DISEASE$ (NBCCS).	has_symptom
+f99748d97d967fb4af4de2b4d4457017af05153c	Keratocystic odontogenic tumor (KCOT) is a benign @PHENOTYPICFEATURE$ that arises sporadically or associated with nevoid basal cell carcinoma syndrome (@DISEASE$).	has_symptom
+6aa2e9ff6c85666a6569b8b9a7d3cdb17f78695f	Bilateral femoral head collapse in an adolescent with @PHENOTYPICFEATURE$ (@DISEASE$ tarda type 1c).	has_symptom
+029281cbf23713b2ac78768f0a4246a23754b89d	We classified their phenotype as a new intermediate form between diastrophic dysplasia and @DISEASE$, manifested by shortening of stature, metatarsus adductus/club foot, mild @PHENOTYPICFEATURE$, proximally placed thumbs and clinodactyly of the fifth fingers.	has_symptom
+91dbf9acbde3dfe06a4605b01ff92aebdcaefbe3	We classified their phenotype as a new intermediate form between @DISEASE$ and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/@PHENOTYPICFEATURE$, mild brachydactyly, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+9bb3e9e248c092e0d71219080e419f4efb7c41bb	We classified their phenotype as a new intermediate form between diastrophic dysplasia and @DISEASE$, manifested by shortening of stature, metatarsus adductus/@PHENOTYPICFEATURE$, mild brachydactyly, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+e90880dd20c301eac36433aeaaa379531a860376	We classified their phenotype as a new intermediate form between diastrophic dysplasia and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/@PHENOTYPICFEATURE$, mild @DISEASE$, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+84f1b431ac8bda8fdd356d605e2626eb42866e9e	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	has_symptom
+b5d3cf1ddca1270b5fb189116a974196d8871c80	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@DISEASE$, polydactyly, @PHENOTYPICFEATURE$).	false
+98cf4fa9535b38b188c5c4a31169453ff4a66df7	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+05502d9bce4c0299fe9f8cbb60b78f826936e29c	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+e27c37573537f349c3edbb99c7c22ca46c5da418	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median @DISEASE$), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+bc3b97ef5eddb18fee007cc18bdc7a5745bfee0d	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@DISEASE$, @PHENOTYPICFEATURE$, syndactyly).	false
+2fbd83d988cad6cef1e7ee62645d7b9999174bcc	Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (@DISEASE$ cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+2b05e7aec13637c52ca6fe0d8b1c20628f8796c9	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$), COMP disorders that are characterized by disproportionate short stature, @PHENOTYPICFEATURE$, scoliosis, early-onset osteoarthritis, and joint hypermobility.	has_symptom
+cf080d78ed23a0edbc73fceeac59c4b1d0b3c4c0	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and @DISEASE$ (MED), COMP disorders that are characterized by disproportionate short stature, @PHENOTYPICFEATURE$, scoliosis, early-onset osteoarthritis, and joint hypermobility.	has_symptom
+bfe41e32ade1e5d09f58bb60f21c4a2fd46402ae	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$), COMP disorders that are characterized by @PHENOTYPICFEATURE$, brachydactyly, scoliosis, early-onset osteoarthritis, and joint hypermobility.	false
+9502709f0dce4b2a5bb9f6e512698a650a79e499	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), COMP disorders that are characterized by @PHENOTYPICFEATURE$, brachydactyly, @DISEASE$, early-onset osteoarthritis, and joint hypermobility.	false
+d9effcaaab4ce13097cdb221dd980e03f5979e5e	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), COMP disorders that are characterized by @PHENOTYPICFEATURE$, @DISEASE$, scoliosis, early-onset osteoarthritis, and joint hypermobility.	false
+ce53eb6f188337c40287a1f6f01d6d5a46d8eea5	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), COMP disorders that are characterized by @PHENOTYPICFEATURE$, brachydactyly, scoliosis, early-onset @DISEASE$, and joint hypermobility.	false
+1c9029a9400bd091ba5a71f299697beb1f9f7a0b	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and @DISEASE$ (MED), COMP disorders that are characterized by @PHENOTYPICFEATURE$, brachydactyly, scoliosis, early-onset osteoarthritis, and joint hypermobility.	false
+2f8e3905cde7c8b25a7bfff504cda4852c3ba7ac	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (@DISEASE$ cleft lip) and the digits (@PHENOTYPICFEATURE$, polydactyly, clinodactyly and/or syndactyly).	has_symptom
+ba9e4f76d9ccd826aee73b306aa128c56d07871b	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (@DISEASE$ cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or @PHENOTYPICFEATURE$).	false
+14d94a4d15cd6cd534a40737810b6c499e79a9d0	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (@DISEASE$, polydactyly, clinodactyly and/or @PHENOTYPICFEATURE$).	false
+66bcbd2ceb5e188ef8cd7dcbba4196b2b5b7d2e0	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (@DISEASE$ cleft lip) and the digits (brachydactyly, @PHENOTYPICFEATURE$, clinodactyly and/or syndactyly).	false
+43a956b52f084edb9326f15d0b2646918c89acf7	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median @DISEASE$) and the digits (brachydactyly, polydactyly, clinodactyly and/or @PHENOTYPICFEATURE$).	false
+769b5a45460a5696ad2321af28417088e93378b4	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median @DISEASE$) and the digits (brachydactyly, @PHENOTYPICFEATURE$, clinodactyly and/or syndactyly).	false
+b592ed759bc5c38d0e31b1e5d3ec769ee9909ce9	These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (@DISEASE$, @PHENOTYPICFEATURE$, clinodactyly and/or syndactyly).	false
+8f154be40147bebf1fbb334cc421a432c06b9358	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (@DISEASE$), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or @PHENOTYPICFEATURE$.	has_symptom
+8ec7e008b548f754e420970cef853205bf513f3b	COMP mutations have been reported in a mild form of @DISEASE$ (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or @PHENOTYPICFEATURE$.	has_symptom
+ed2e1096faff9206db1aa43b2547efd2bd90dca5	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as @DISEASE$ Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or @PHENOTYPICFEATURE$.	has_symptom
+a392b6208abacbfd61b129617c68e6b105f0b949	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (@DISEASE$), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+8f30f2425461eaf170ab848fefa16232580462b1	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or @DISEASE$.	false
+dd78ad60efa87d2f0bf1a948ea34325cca10c713	COMP mutations have been reported in a mild form of @DISEASE$ (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+db2f64873fdbda81a1422bbc608a60c292d906c0	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as @DISEASE$ Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+30913d94f069812e04c6ff0132e7f9baa76ea970	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and @DISEASE$. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+11d3680ca782c06be1c5689408c0e5c9e6dfe137	Multiple epiphyseal dysplasia (@DISEASE$) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and @PHENOTYPICFEATURE$.	has_symptom
+3c2eae56ee4b89d46dffaa3f61cdd3bd72a3891a	@DISEASE$ (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and @PHENOTYPICFEATURE$.	has_symptom
+a9a3704a439ed162b68497721543d23ed4a3b38c	Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, @PHENOTYPICFEATURE$, scoliosis, and @DISEASE$.	false
+1963b421c9ce05c4b70e6a2753600ed95aaa0e30	Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as @PHENOTYPICFEATURE$ (mild to moderate), joint deformities, abnormal gait, @DISEASE$, and brachydactyly.	false
+0c7154f151eaa81369a604a123fc7068e330c52c	Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, @PHENOTYPICFEATURE$, @DISEASE$, and brachydactyly.	false
+d44b14cdf95f95c41d20b75f68c34e02db120645	Multiple epiphyseal dysplasia (@DISEASE$) is a heterogeneous genetic condition characterized by variable phenotypes, such as @PHENOTYPICFEATURE$ (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly.	false
+7e88b6dcca6513dbb9d7fae90a309fd83440fb2a	@DISEASE$ (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, @PHENOTYPICFEATURE$, scoliosis, and brachydactyly.	false
+47c6b5c7d2241d39eaa5ba537b4a94008b5c4504	Multiple epiphyseal dysplasia (@DISEASE$) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, @PHENOTYPICFEATURE$, scoliosis, and brachydactyly.	false
+d7b70c10da6c4bd5466915d9ae654b04b6adac23	@DISEASE$ (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as @PHENOTYPICFEATURE$ (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly.	false
+0589305c23c5009a07fde0db400c5ded4d8edf70	Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as @PHENOTYPICFEATURE$ (mild to moderate), joint deformities, abnormal gait, scoliosis, and @DISEASE$.	false
+59225bbd1c8d3aefc4da96bdbd3d60c537c377f1	The disorders include "classic MED" (Ribbing and Fairbank types): @DISEASE$ that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, @PHENOTYPICFEATURE$, and clubbed feet resultant from mutations in gene defect diastrophic dysplasia (DTDST).	has_symptom
+bedceaa8906731dec451eb7c3917a617ab003086	The disorders include "classic @DISEASE$" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, @PHENOTYPICFEATURE$, and clubbed feet resultant from mutations in gene defect diastrophic dysplasia (DTDST).	has_symptom
+ea774b764618f5b56e396ddaf35308a6b9e951f8	The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and @DISEASE$ with multilayered patella, @PHENOTYPICFEATURE$, and clubbed feet resultant from mutations in gene defect diastrophic dysplasia (DTDST).	has_symptom
+e47241d4899565844d74f5c802c978f05e2d3e91	@DISEASE$ (LHF) is a viral disease accompanied with @PHENOTYPICFEATURE$, headache, vomiting, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	has_symptom
+da6a62cae853eb441cf87e0a9d5d1a5d71710007	Lujo hemorrhagic fever (LHF) is a viral disease accompanied with fever, headache, @PHENOTYPICFEATURE$, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic @DISEASE$.	false
+ca955f5fdf844e692ce01a8bd43df900fa81767c	Lujo hemorrhagic fever (LHF) is a viral disease accompanied with @DISEASE$, headache, @PHENOTYPICFEATURE$, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	false
+96f0ddb22ae238df0d6f2b5cd9a2cbb14ad4e33a	Lujo hemorrhagic fever (LHF) is a viral disease accompanied with fever, headache, @PHENOTYPICFEATURE$, @DISEASE$, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	false
+11576ce095c885e913e35abb5bb9a88d20cc79ca	@DISEASE$ (LHF) is a viral disease accompanied with fever, headache, @PHENOTYPICFEATURE$, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	false
+4e55544315fe0ee0d27fbd09944f9e8195d6f82c	@DISEASE$ (FMF) is a chronic autoinflammatory condition characterized by @PHENOTYPICFEATURE$ attacks and recurrent polyserositis.	has_symptom
+68f686051fb1c23971a14fbd0ec38e2bb36fcb73	Familial Mediterranean fever (@DISEASE$) is a chronic autoinflammatory condition characterized by @PHENOTYPICFEATURE$ attacks and recurrent polyserositis.	has_symptom
+b552cbe767638cac1c60a481fb0c40fa9b3ff034	@DISEASE$ (FMF) is characterized by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+f63fffd43d16f5b10a799342e8f66bb5d97d72ae	Familial Mediterranean fever (@DISEASE$) is characterized by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+63cdca6369e692fab2fff5313ba096466e4ee62a	@DISEASE$ (FMF) is characterised by recurrent, self-limited @PHENOTYPICFEATURE$ attacks and serositis.	has_symptom
+f9c61cb6215393e169a85484570ad7f2400994e5	Familial Mediterranean fever (@DISEASE$) is characterised by recurrent, self-limited @PHENOTYPICFEATURE$ attacks and serositis.	has_symptom
+a78b09174ed426f2c032e42b8e86159c8dee2f39	@DISEASE$ (FMF) is characterised by recurrent episodes of @PHENOTYPICFEATURE$ and painful serositis.	has_symptom
+7f4ec12b8761c3efd7c1143790eaca4fcf3c911f	Familial Mediterranean fever (@DISEASE$) is characterised by recurrent episodes of @PHENOTYPICFEATURE$ and painful serositis.	has_symptom
+0b9d818d7d0333d80338647bbd1701f3ce00527c	Familial Mediterranean fever (@DISEASE$) causes recurrent episodes of @PHENOTYPICFEATURE$ and painful serositis.	has_symptom
+0f0b337c86728937a5149df0c9e00230d9a9c4ab	@DISEASE$ (FMF) causes recurrent episodes of @PHENOTYPICFEATURE$ and painful serositis.	has_symptom
+ca4897c032fe0bb38f844ebf4934acd7c677e12d	@DISEASE$ (FMF) is characterised by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+5ec764d7df162d354839a0a5fea8d916fc34a6fd	Familial Mediterranean fever (@DISEASE$) is characterised by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+b552cbe767638cac1c60a481fb0c40fa9b3ff034	@DISEASE$ (FMF) is characterized by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+f63fffd43d16f5b10a799342e8f66bb5d97d72ae	Familial Mediterranean fever (@DISEASE$) is characterized by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+0d1a6bda3337e902b57b06ba705c275041a127f6	Familial Mediterranean fever (@DISEASE$) is characterized by sporadic, acute attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+78836d4c3deda1b39cda7e5a526d628934cf1f4a	@DISEASE$ (FMF) is characterized by sporadic, acute attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+103bf1dbbd3322710084f77f497150d1c9ff6209	@DISEASE$ (FMF) is a self-limited disease characterized by @PHENOTYPICFEATURE$ and polyserositis attacks.	has_symptom
+12e87268db48f293be409ab7bc65c4dbdc60229b	Familial Mediterranean fever (@DISEASE$) is a self-limited disease characterized by @PHENOTYPICFEATURE$ and polyserositis attacks.	has_symptom
+ed999e245aae97d80e1b52583f90262e03edbb5e	Familial Mediterranean fever (@DISEASE$) is a hereditary periodic disease characterised by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+d302503fb4c6ae2066c4ed1a09eba89d7ba928a3	Familial Mediterranean fever (FMF) is a hereditary @DISEASE$ characterised by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+3d9448423f2e10a576468d32f60f8e30828522b9	@DISEASE$ (FMF) is a hereditary periodic disease characterised by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	has_symptom
+fcae22f88cf07d5b852853553861b577e23ef2f4	Antidiuretic hormone deficiency with @DISEASE$ and @PHENOTYPICFEATURE$ are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including tumors of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	has_symptom
+df06acd3e0fa51ffe90ec4b6407b7d5ffc61843a	@DISEASE$ with central diabetes insipidus and @PHENOTYPICFEATURE$ are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including tumors of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	has_symptom
+a96a8f4cefff9c814fe2fb1773e92eaa4be69628	@DISEASE$ with central diabetes insipidus and growth retardation are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including @PHENOTYPICFEATURE$ of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	false
+56ae57b068de48cc7b452e73ef370cc3b95e0f7f	Antidiuretic hormone deficiency with central diabetes insipidus and growth retardation are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of @DISEASE$, including @PHENOTYPICFEATURE$ of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	false
+b8d9aa69c8399cde47295316933737a96cb46a1b	Antidiuretic hormone deficiency with @DISEASE$ and growth retardation are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including @PHENOTYPICFEATURE$ of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	false
+1f414eae7435a51f6f43ac9aaa30d0895d71469c	Antidiuretic hormone deficiency with central diabetes insipidus and growth retardation are the most significant presenting symptoms in children with @DISEASE$, requiring a careful differential diagnosis with other causes of hypopituitarism, including @PHENOTYPICFEATURE$ of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	false
+0bb987eb7050e2777c85ae7731b3405a719845f9	Antidiuretic hormone deficiency with central diabetes insipidus and @DISEASE$ are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including @PHENOTYPICFEATURE$ of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations.	false
+eb3f3293851853704ee7b41e297fa56a41420494	Antidiuretic hormone deficiency with central diabetes insipidus and growth retardation are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including @PHENOTYPICFEATURE$ of the sellar region, differently from adults in whom @DISEASE$, hypogonadism, headache or diplopia might be the leading manifestations.	false
+4756a03e4d19b39817d067c15b373ecbe8958f24	@PHENOTYPICFEATURE$ due to panhypopituitarism and @DISEASE$ following Russell's viper bite.	has_symptom
+4adf927ac1ff03578ad12ff662c208f07bf3bb95	Hereditary inclusion body myopathy/@DISEASE$ is an adult onset autosomal recessive @PHENOTYPICFEATURE$ disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE:p.M712T.	has_symptom
+00f85d4b68bbdaf99fb70ae85d79c5abc4f0ca36	Sialic acid deficiency is associated with oxidative stress leading to @PHENOTYPICFEATURE$ and weakness in @DISEASE$.	has_symptom
+74db9cc4488123cab736d7b0964a4f54aeeec9f8	@DISEASE$/hereditary inclusion body myopathy (DMRV/hIBM), characterized by progressive @PHENOTYPICFEATURE$, weakness, and degeneration, is due to mutations in GNE, a gene encoding a bifunctional enzyme critical in sialic acid biosynthesis.	has_symptom
+c20ece878ad31062c4248eb5f562a8bde3767181	@DISEASE$, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive @PHENOTYPICFEATURE$.	has_symptom
+20d0bfa6559cc88732f9fd41abc7f385cd3379d1	GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or @DISEASE$, is a rare autosomal recessive muscle disease characterized by progressive @PHENOTYPICFEATURE$.	has_symptom
+3f13c208ca7536e48076090cd01a860ffb19eeca	Oral treatment with sialic acid metabolite prevents @PHENOTYPICFEATURE$ and weakness in a mouse @DISEASE$ model and a global Phase III study is currently underway.	has_symptom
+91bf4d3c828cd57876dd099bd6f8e5f3d14a300a	Genetic defects of the GNE gene which encodes a critical bifunctional enzyme for sialic acid biosynthesis, lead to @DISEASE$, a disease manifesting with progressive @PHENOTYPICFEATURE$ and weakness.	has_symptom
+a0f20fb02ad1adcd85fdf5fa9076e5eee1c53530	@DISEASE$ is an autosomal recessive adult-onset disorder characterized by progressive @PHENOTYPICFEATURE$ and weakness, initially involving the distal muscles, while often sparing the quadriceps.	has_symptom
+054c839d32b77cd9aff4497a7e33ebf30dd816a1	GNE myopathy (also called @DISEASE$ or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by @PHENOTYPICFEATURE$ and weakness that preferentially involve the distal muscles.	has_symptom
+eb1ce049474af6fb701248758426e700b6a9ad40	@DISEASE$ (also called distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by @PHENOTYPICFEATURE$ and weakness that preferentially involve the distal muscles.	has_symptom
+ae1bae93398c38bcb42daca01849ca204ba991e0	The skin manifestations of patients with @DISEASE$ are scaly, pruritic, diffuse erythema, reticular pigmentation, moderate @PHENOTYPICFEATURE$, seborrheic eczema, atopy and vitiligo.	has_symptom
+d8ea0df2e5d4815b3505ddfdedb2b66fef037be7	The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse @PHENOTYPICFEATURE$, reticular pigmentation, moderate hypertrichosis, @DISEASE$, atopy and vitiligo.	false
+c9c220189db2927443707903f7506d67d01a1500	The skin manifestations of patients with MELAS syndrome are scaly, pruritic, diffuse @PHENOTYPICFEATURE$, reticular pigmentation, moderate @DISEASE$, seborrheic eczema, atopy and vitiligo.	false
+e792d8ca638c8b815fdf852d8681c62eff983f74	The skin manifestations of patients with @DISEASE$ are scaly, pruritic, diffuse @PHENOTYPICFEATURE$, reticular pigmentation, moderate hypertrichosis, seborrheic eczema, atopy and vitiligo.	false
+5d2f9b950b97abcecdcec062be3f203fcb45d549	@DISEASE$ (TS) is a pathology with an @PHENOTYPICFEATURE$ pattern of inheritance that is due to a disorder affecting cell differentiation and proliferation that produces hamartomas in different organs.	has_symptom
+dfbdde9e491087a2fd1e62962764b51781114d72	@DISEASE$ (TS) is a rare @PHENOTYPICFEATURE$ genetic disease.	has_symptom
+adb3f4ce079a6cfb6f2472966b8e4b4c5e666453	Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and @DISEASE$) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, @PHENOTYPICFEATURE$, and central nervous system and bone involvement.	has_symptom
+eed6500f942f0ef1f8bb6aa9d73969608bf56c1e	However, current evidence suggests that anakinra has limited effectiveness in reversing  the @PHENOTYPICFEATURE$ seen in @DISEASE$.	has_symptom
+7c701d2f5b305e5e9e3f21b3a45763d35dc0a810	@DISEASE$ (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by fever, chronic meningitis, uveitis, @PHENOTYPICFEATURE$, urticarial skin rash, and a characteristic deforming arthropathy.	has_symptom
+e7ef019a13636090c307563776e3721204f8caa8	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, chronic meningitis, @DISEASE$, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming arthropathy.	false
+2e5dc5ec8e6c500790324c85022c8616c8d1627d	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, uveitis, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming arthropathy.	false
+8dca3840b3219f97bacef3680186c10bda9c5777	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming @DISEASE$.	false
+94b04d46ef435140abea24a0e786436979e2362f	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, chronic meningitis, uveitis, @DISEASE$, urticarial skin rash, and a characteristic deforming arthropathy.	false
+28ebf1b7fd9c1645a3e19c1734dc8f5d835d0178	@DISEASE$ (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, chronic meningitis, uveitis, sensorineural hearing loss, urticarial skin rash, and a characteristic deforming arthropathy.	false
+97a52f5cc57fc78ed5ba483d522b1c95af8e246a	Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular [CINCA] syndrome) is characterized by @PHENOTYPICFEATURE$, chronic meningitis, uveitis, sensorineural hearing loss, urticarial @DISEASE$, and a characteristic deforming arthropathy.	false
+eaf5fd5078192bc8dea89a708ec5de42d96fcf68	Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to damage to the cranial nuclei in the brain stem, resulting in aberrant neurologic connections causing a condition of @PHENOTYPICFEATURE$, @DISEASE$.	has_symptom
+b2d6787836f1dc7ee91d40cfc7f8d62670bbc8bc	@DISEASE$ is a congenital @PHENOTYPICFEATURE$, which may be inherited as an autosomal dominant trait but usually occurs sporadically.	has_symptom
+617e28e99f0aa3b5252ccd4baadeec54476d5ec2	Allgrove or @DISEASE$ is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, @PHENOTYPICFEATURE$, upper and lower motoneuron signs and various neuropathic abnormalities.	has_symptom
+82e7364cb6d403b37e270e44bdabc3aba268b2f0	Allgrove or @DISEASE$ is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including @PHENOTYPICFEATURE$, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities.	false
+7be34f5f671f3064b1b8c39976bfa1fa154313e1	Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including @PHENOTYPICFEATURE$, @DISEASE$, upper and lower motoneuron signs and various neuropathic abnormalities.	false
+e0ba88b302b53456905a6f63375e84670ee8c1f8	Five of the conditions (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down syndrome, and @DISEASE$) display a defect in the nucleotide excision repair pathway, four (Huntington's disease, various spinocerebellar ataxias, Friedreich's @PHENOTYPICFEATURE$ and myotonic dystrophy types 1 and 2) exhibit an unusual expansion of repeat sequences in DNA, and four (ataxia-telangiectasia, ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) exhibit defects in genes involved in repairing double-strand breaks.	has_symptom
+f9e0bee06166f90c0ac877467f853ff4cef0c390	@DISEASE$ is a rare, autosomal dominant @PHENOTYPICFEATURE$ marked by acro-osteolysis of the distal phalanges and severe osteoporosis.	has_symptom
+d703c183b2415e5ff54e77d3a6e9e8dc71da92e1	Although the pathoetiology is unknown, the @DISEASE$ of idiopathic acroosteolysis is distinct from the other forms because a generalized @PHENOTYPICFEATURE$ is the most distinct feature, and it is usually not present in early childhood.	has_symptom
+382517fdd4bc4279d5a62f331840eb62f142dc1e	@DISEASE$ is a very rare, inherited, autosomal dominant, @PHENOTYPICFEATURE$ associated with characteristic craniofacial and dental features, primary acroosteolysis of the terminal phalanges and generalized osteoporosis.	has_symptom
+e06c80113474a0a84b51db2c7ac9e421f5810c73	@DISEASE$ (MIM 102500) is a rare @PHENOTYPICFEATURE$ marked by severe generalized osteoporosis and focal bone loss (acro-osteolysis).	has_symptom
+d69bc5abbd337f125d6be0494c8d32c2373d717d	Hadju-@DISEASE$ is characterized by short stature, distinctive facies, and a slowly progressive @PHENOTYPICFEATURE$ including acro-osteolysis.	has_symptom
+a0f5e64e89702ee7cd9928c629229728fe264e28	Hadju-Cheney syndrome is characterized by @PHENOTYPICFEATURE$, distinctive facies, and a slowly progressive @DISEASE$ including acro-osteolysis.	false
+4dcd43fc35c5414bdbd46b8caa4647944b11ac61	Hadju-Cheney syndrome is characterized by @PHENOTYPICFEATURE$, distinctive facies, and a slowly progressive skeletal dysplasia including acro-@DISEASE$.	false
+5cd649857a3fc4772cc5189a7e9f0ab0de5649cc	Hadju-@DISEASE$ is characterized by @PHENOTYPICFEATURE$, distinctive facies, and a slowly progressive skeletal dysplasia including acro-osteolysis.	false
+302fa2a06cc9893123c9672dc42ea901954b4c95	The @DISEASE$ includes short stature, characteristic facies, and a slowly progressive @PHENOTYPICFEATURE$ which affects skull, spine, and long bones.	has_symptom
+a6d55ab699ee670575b979c1ce720e6fef89538d	The Hajdu-Cheney syndrome includes @PHENOTYPICFEATURE$, characteristic facies, and a slowly progressive @DISEASE$ which affects skull, spine, and long bones.	false
+03603a0e18550d2ff23f9a9a0bbe2e2721a17601	The @DISEASE$ includes @PHENOTYPICFEATURE$, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones.	false
+1f535cd480d9a3d4834bc15eb6badf97282363d9	This review will focus on the current update on the epidemiologic and genetics features and treatment options of the lung involvements associated with four major rheumatic diseases (rheumatoid arthritis, @DISEASE$, myositis, and systemic lupus erythematosus), with more attention to a specific form of involvement or @PHENOTYPICFEATURE$.	has_symptom
+736589e57360b4dd0bf708312abd172f7aefdc50	Scleroderma @PHENOTYPICFEATURE$ (SLD) is a leading cause of morbidity and mortality in patients with @DISEASE$.	has_symptom
+233080803fc881d37259a9dfe57864faaad0328c	@DISEASE$ @PHENOTYPICFEATURE$ (SLD) is a leading cause of morbidity and mortality in patients with systemic sclerosis.	has_symptom
+1e2f9e75d649c70cad4372ccd784d4f4545c1a20	In the later course of the disease clinical picture of mixed connective tissue disease associated with @PHENOTYPICFEATURE$, with a dominant picture of @DISEASE$ have emerged.	has_symptom
+82a946d85431153c7963715822388c5a18535aa3	Even in dcSSc, ACA appears protective for organ-based complications, namely @PHENOTYPICFEATURE$ and @DISEASE$ renal crisis, and is associated with a better survival than expected in dcSSc.	has_symptom
+5a1a3e999ef3c841a2686fd631e79964e8f4a071	A one-year, phase I/IIa, open-label pilot trial of imatinib mesylate in the treatment of @DISEASE$-associated active @PHENOTYPICFEATURE$.	has_symptom
+d682f77b092b2fd4c28170ecf92822f8f5ab5912	Eight patients with @DISEASE$/@PHENOTYPICFEATURE$ were studied to assess the validity and acceptability of the technique.	has_symptom
+d79979ff2ea1db8ee019e02ff1abfcfcaee60ab5	@DISEASE$ @PHENOTYPICFEATURE$ is characterised by a VEGF deficiency.	has_symptom
+0b529eabb2a9560ecdcfb761bdc58e4cccae4bf6	Prospective study based on a database of 44 patients (29 females) with respiratory disorders: 16 patients had idiopathic pulmonary fibrosis, 11 patients had @DISEASE$ associated interstitial lung disease, 2 patients had polymyositis associated interstitial lung disease, 2 patients had Sj?gren associated @PHENOTYPICFEATURE$, 2 patients had rheumatoid artrithis associated interstitial lung disease, 1 patient had undifferentiated connective tissue diseases associated interstitial lung disease and 10 patients had sarcoidosis.	has_symptom
+9c4424fdd1ac673649c0b01d83969c3d8aa77d5b	Prospective study based on a database of 44 patients (29 females) with respiratory disorders: 16 patients had idiopathic pulmonary fibrosis, 11 patients had @DISEASE$ associated @PHENOTYPICFEATURE$, 2 patients had polymyositis associated interstitial lung disease, 2 patients had Sj?gren associated interstitial lung disease, 2 patients had rheumatoid artrithis associated interstitial lung disease, 1 patient had undifferentiated connective tissue diseases associated interstitial lung disease and 10 patients had sarcoidosis.	has_symptom
+d6405bef096684fc1a11f4c7763e8b779c303138	Prospective study based on a database of 44 patients (29 females) with respiratory disorders: 16 patients had idiopathic pulmonary fibrosis, 11 patients had @DISEASE$ associated interstitial lung disease, 2 patients had polymyositis associated interstitial lung disease, 2 patients had Sj?gren associated interstitial lung disease, 2 patients had rheumatoid artrithis associated @PHENOTYPICFEATURE$, 1 patient had undifferentiated connective tissue diseases associated interstitial lung disease and 10 patients had sarcoidosis.	has_symptom
+27a9d23910e153fe5373c60720d76b9993c8bff7	Prospective study based on a database of 44 patients (29 females) with respiratory disorders: 16 patients had idiopathic pulmonary fibrosis, 11 patients had @DISEASE$ associated interstitial lung disease, 2 patients had polymyositis associated @PHENOTYPICFEATURE$, 2 patients had Sj?gren associated interstitial lung disease, 2 patients had rheumatoid artrithis associated interstitial lung disease, 1 patient had undifferentiated connective tissue diseases associated interstitial lung disease and 10 patients had sarcoidosis.	has_symptom
+3dfa8974ec63e9ca5a7b29a7edb929abc1ecfdb7	Due to the symptoms of idiopathic intracranial hypertension, such as headaches, nausea, @PHENOTYPICFEATURE$, and the presence of transient visual obscuration and papilledema, in three other members of this family (aged 16, 17, and 25 years), we considered a presumptive diagnosis of @DISEASE$, and the need for thorough follow-up.	has_symptom
+0cdcef51853b558edb007987a09fc8985ee29054	Herein, we present a child of @DISEASE$ disease, who had near-continuous @PHENOTYPICFEATURE$, and was subsequently attenuated by administration of Perampanel.	has_symptom
+1d044fb704c906c39ea1bcd9853e0a1521cebc2e	@PHENOTYPICFEATURE$-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	has_symptom
+4dc0830aa9b68fb9e6e8a17e211e5df05efa3dee	@PHENOTYPICFEATURE$-retardation-dysmorphism (HRD) or @DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	has_symptom
+e65422de5742ed70974ed21b7d11b3478a113f40	Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital @DISEASE$ (hypoPTH), retardation, @PHENOTYPICFEATURE$, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+df7dfc9f384cc33e049b17f528d5d3d64e5d0d4e	@DISEASE$-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical @PHENOTYPICFEATURE$, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+57b3221f270afb53d6a0bcf3c3a94a45ee6d6cf2	Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical @PHENOTYPICFEATURE$, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+9a4483c98a0035a47a31e33f94ab28a160fee837	Hypoparathyroidism-retardation-dysmorphism (HRD) or @DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, @PHENOTYPICFEATURE$, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+27f3f8f90fbfd342f59105c7dbac5ddb5e31132c	Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, @PHENOTYPICFEATURE$, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+4049ec0a41ce8ff00c4e66b580efa99f45c3b211	@DISEASE$-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, @PHENOTYPICFEATURE$, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+f5b69ff022d6713ae81d10664573a49010ea379e	Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital @DISEASE$ (hypoPTH), retardation, seizures, and a typical @PHENOTYPICFEATURE$, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+b6acd1e2c211fa39ae261c7b60e102c74c07b7d8	Hypoparathyroidism-retardation-dysmorphism (HRD) or @DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical @PHENOTYPICFEATURE$, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+2456a92ae49661e3440d04a1bf4ac41fb9880974	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @PHENOTYPICFEATURE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	has_symptom
+3958db3eaa415e0d5ee1228d31eb0ea16a563bf4	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+328af8a5a709acd279a227b2dae1bf59b34497a4	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+13cb51e6acf14403fa7a6458476c52a570fe282a	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @DISEASE$, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+10a46e930dd2fa817cb0295d3a33663c10f4935f	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+3a7c6059fd77dfd30d0a3959f03c4097498c79d3	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+b0c2626a03bea8f12fa489160f161805a43288fa	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @DISEASE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, mental retardation, @PHENOTYPICFEATURE$, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+92a5bd1b44741416c6bddcc6a00b93f2673090f1	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, @PHENOTYPICFEATURE$ and hyperphosphataemia, severe intrauterine and postnatal growth @DISEASE$ infection susceptibility prone, dwarfism, mental retardation, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+b78a4317dc5d8f3feb4cff197aaa45c3df8c3b58	Sanjad--Sakati syndrome (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by @DISEASE$, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+cfe04ce850da1a4085e44d0f1ec54d44aee3155e	@DISEASE$ (SSS) is a genetic disease confined to Arab populations in the Middle- East countries and characterized by hypoparathyroidism, hypocalcaemia and hyperphosphataemia, severe intrauterine and postnatal growth failure, respiratory infection susceptibility prone, dwarfism, @PHENOTYPICFEATURE$, seizures, craniofacial dysmorphic features as retromicrognathia and abnormal dentition.	false
+24e02609bef5324a0b532167b6fb77fab5b1b45c	On investigation, he had hypocalcaemia, @PHENOTYPICFEATURE$ and bilateral calcification of basal ganglia in cranial tomographs; features consistent with @DISEASE$.	has_symptom
+c8c625fbfc2ff23251f57150c5542dbc27f9122c	On investigation, he had @PHENOTYPICFEATURE$, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with @DISEASE$.	false
+80009fc2b3745c6e303707a56388c352d28a7fe3	On investigation, he had @PHENOTYPICFEATURE$, @DISEASE$ and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome.	false
+f96287272696d54d321d1a5c7e1887d20d212264	@DISEASE$ (SSS), also known as @PHENOTYPICFEATURE$-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	has_symptom
+4851881f894a1efbf5f21cc2eabd649992801183	Sanjad-Sakati syndrome (SSS), also known as @DISEASE$-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by @PHENOTYPICFEATURE$ and dysmorphic features.	false
+81093a41c14c6c24ecee0070906991fd6cf68716	Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-@PHENOTYPICFEATURE$-@DISEASE$, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	false
+f87fcd240c72af9b4a5cdd81ea2561c046ea9ca4	Sanjad-Sakati syndrome (SSS), also known as @DISEASE$-@PHENOTYPICFEATURE$-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	false
+859176e5fd603ea9d914d4d61151d7463d468716	@DISEASE$ (SSS), also known as hypoparathyroidism-mental retardation-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by @PHENOTYPICFEATURE$ and dysmorphic features.	false
+1073c1ad309ad4010148035bf04f3a66e108ca6c	Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism-mental retardation-@DISEASE$, or HRD, is a rare disorder characterized by growth and developmental delay, and by @PHENOTYPICFEATURE$ and dysmorphic features.	false
+4efcea7188845c9fc2c4293f48b4fd131a872f89	@DISEASE$ (SSS), also known as hypoparathyroidism-@PHENOTYPICFEATURE$-dysmorphism syndrome, or HRD, is a rare disorder characterized by growth and developmental delay, and by mental retardation and dysmorphic features.	false
+659f021532dfc74551933bd9bfc81b82025a9992	@DISEASE$ (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as @PHENOTYPICFEATURE$-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.	has_symptom
+c752ec7c64a5d0e19dba5e7aed496f89bd6666cc	Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme @PHENOTYPICFEATURE$, congenital @DISEASE$ and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.	false
+ecb6ea869eda0f7bb296d87b350a1e6caf786381	@DISEASE$ (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme @PHENOTYPICFEATURE$, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.	false
+c8fe27755c4fad25a0482964cf87f66fe8e9155e	Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) @DISEASE$, is an autosomal recessive disorder in which prenatal-onset extreme @PHENOTYPICFEATURE$, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.	false
+dca9f3ad4bfe57d13b24027e3673ddd1743aa42c	Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as @DISEASE$-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme @PHENOTYPICFEATURE$, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43.	false
+b77bfbe89d5e93bd4b1479615222cb2935544284	The purpose of this report is to describe the ophthalmic manifestations of @DISEASE$ (SSS; @PHENOTYPICFEATURE$-mental retardation-dysmorphism syndrome, HRD) (OMIM 241410).	has_symptom
+d34a1685e05ac6a1b8c0a2ad76708f71060ecf1a	The purpose of this report is to describe the ophthalmic manifestations of @DISEASE$ (SSS; hypoparathyroidism-@PHENOTYPICFEATURE$-dysmorphism syndrome, HRD) (OMIM 241410).	false
+4e414c3b5617208e3559166d145d6f479befcdb0	The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; @DISEASE$-@PHENOTYPICFEATURE$-dysmorphism syndrome, HRD) (OMIM 241410).	false
+82eb16854231589c8443397a0491191ce374445a	The purpose of this report is to describe the ophthalmic manifestations of Sanjad-Sakati syndrome (SSS; hypoparathyroidism-@PHENOTYPICFEATURE$-@DISEASE$, HRD) (OMIM 241410).	false
+0b6b09246d78d475355414155d2413e1a0c793c0	@DISEASE$ (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and hyperhidrosis of planta and palms, @PHENOTYPICFEATURE$ and caries, premature grey hair.	has_symptom
+f1fde211f75a2f9a8be3abacec5f52c50f731938	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of @DISEASE$, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, @PHENOTYPICFEATURE$ and hyperhidrosis of planta and palms, dental anomalies and caries, premature grey hair.	false
+c3a58ce28e5e0f41e9d42f36ff429e83ca327c2d	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and @PHENOTYPICFEATURE$ of planta and palms, @DISEASE$ and caries, premature grey hair.	false
+2a38e8b204c7432cc3a929eb8a5d00336fa62ec3	@DISEASE$ (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, @PHENOTYPICFEATURE$ and hyperhidrosis of planta and palms, dental anomalies and caries, premature grey hair.	false
+a2b1126cbe93f50b5ad921a794ece69fa7365433	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, @PHENOTYPICFEATURE$ and hyperhidrosis of planta and palms, @DISEASE$ and caries, premature grey hair.	false
+50e4fde2bd7ab2999df309935e024c853024a296	Zinsser-Engman-Cole syndrome (Z.E.C.) is a very rare type of @DISEASE$, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and @PHENOTYPICFEATURE$ of planta and palms, dental anomalies and caries, premature grey hair.	false
+52ab299a08679a3dc50c3c15cff6664729113344	@DISEASE$ (Z.E.C.) is a very rare type of ectodermal dysplasia, inherited in X-linked recessive manner and characterised by poikiloderma, nail dystrophy, lingual leucoplakia, bone marrow hypoplasia, hyperkeratosis and @PHENOTYPICFEATURE$ of planta and palms, dental anomalies and caries, premature grey hair.	false
+d7a144dcefde9986ed5ee3dda6871a1bbcd937bd	@PHENOTYPICFEATURE$ in familial @DISEASE$.	has_symptom
+de70a8885141eb5fa3642e8edda33ad667ea9357	@PHENOTYPICFEATURE$ in nonfamilial @DISEASE$.	has_symptom
+fd8669f9755dd9595a382e1c684369bfc58c26fa	@PHENOTYPICFEATURE$ as an early marker of @DISEASE$.	has_symptom
+a9accac375b302e7b9ce926c8a1187104b781e2a	Multiple myeloma, Waldenstrom's macroglobulinemia and @DISEASE$ frequently present with @PHENOTYPICFEATURE$.	has_symptom
+43ba59df8db9b746993c3259a9005596f74a7c73	Low diagnostic yield of sural nerve biopsy in patients with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+14fba2f0dca7545a34336577b790cc30f4f589e1	[@PHENOTYPICFEATURE$ in familial @DISEASE$, with special reference to 10 cases in one family and a review of the literature].	has_symptom
+7fe8bad4e1b26d77a25d7be855fc8ccc8d43dfe5	@DISEASE$ with @PHENOTYPICFEATURE$ and signs of motor neuron disease.	has_symptom
+d7b57ea51a3556892e23e96107f25e33ee53149e	Patients with @DISEASE$ may develop @PHENOTYPICFEATURE$ as an early feature.	has_symptom
+86ea47d9804eccfac0345f79948add25f7841c8e	MR neurography biomarkers to characterize @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+ecb77fea8573b850c601c8d2cfdfa11d5989d263	@DISEASE$ (AL) may be complicated by @PHENOTYPICFEATURE$ in 15-35% of cases.	has_symptom
+3dd5bdc1951d2e86de874abfe27cfaefb97d42d5	The indications for vascularized tissue were 9 facial defects (8 severe burns and 1 @DISEASE$), 3 large lumbosacral ulcers resulting from @PHENOTYPICFEATURE$, 1 large vulvoperineal defect resulting from resection for Chron disease, and 1 large circumferential tissue defect at the lower extremity resulting from tumor extirpation.	has_symptom
+ec9a55b348a86e6921394e29820b1980b4ff784f	The indications for vascularized tissue were 9 @DISEASE$ defects (8 severe burns and 1 neurofibromatosis), 3 large lumbosacral ulcers resulting from spina bifida, 1 large vulvoperineal defect resulting from resection for Chron disease, and 1 large circumferential tissue defect at the lower extremity resulting from @PHENOTYPICFEATURE$ extirpation.	false
+770a2cfc7fcd8f1110cbd46e4f64f090c69454c5	The indications for vascularized tissue were 9 facial defects (8 severe burns and 1 neurofibromatosis), 3 large lumbosacral ulcers resulting from @DISEASE$, 1 large vulvoperineal defect resulting from resection for Chron disease, and 1 large circumferential tissue defect at the lower extremity resulting from @PHENOTYPICFEATURE$ extirpation.	false
+556f69290f9879c530683965a209841e4db7951e	The indications for vascularized tissue were 9 facial defects (8 severe burns and 1 @DISEASE$), 3 large lumbosacral ulcers resulting from spina bifida, 1 large vulvoperineal defect resulting from resection for Chron disease, and 1 large circumferential tissue defect at the lower extremity resulting from @PHENOTYPICFEATURE$ extirpation.	false
+2bee4281896e272fe224e3261395e84d9ef90b28	Except for transition programs for specific diseases, such as @PHENOTYPICFEATURE$ or @DISEASE$ or cerebrovascular diseases, which are followed by adult surgical-endovascular teams, the transition from pediatric to adult care is generally left to the initiative of patients and their family.	has_symptom
+c5481e61539474a9855343b681173732ba599989	We describe another patient with isolated partial @DISEASE$ who suffered from failure to thrive, @PHENOTYPICFEATURE$ and progressive respiratory insufficiency with fatal outcome at the age of 6.5 months.	has_symptom
+714268f8f04a2fcd501d60f510d5cb8ed7ca05cd	Clinical symptoms and signs in our patient attributable to @DISEASE$ include @PHENOTYPICFEATURE$, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy.	has_symptom
+d2d87c756b9d8ab4996ef93d375d5a698c677116	Clinical symptoms and signs in our patient attributable to @DISEASE$ include muscular hypotonia, @PHENOTYPICFEATURE$ (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy.	false
+dd5d095799c01a9e323ccb6d5cec4d4c4598edcc	Clinical symptoms and signs in our patient attributable to MCC deficiency include @DISEASE$, @PHENOTYPICFEATURE$ (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy.	false
+7b5d70ef72f5aa4dee2be37267df4d30f686d951	Clinical symptoms and signs in our patient attributable to MCC deficiency include @DISEASE$, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+31d9d0ed4d670c3309a9c38a997ad2ede267a7de	Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular hypotonia, failure to thrive (already present at birth), progressive @DISEASE$ due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+27dd09897c0b13e2c71d7ffc9707d23a70ab3dc4	Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular hypotonia, @PHENOTYPICFEATURE$ (already present at birth), progressive @DISEASE$ due to diaphragmatic paresis and a moderate brain atrophy.	false
+d92389539fea37814f2d25b327605dc3b2e7e09c	Clinical symptoms and signs in our patient attributable to @DISEASE$ include muscular hypotonia, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+5b4adc6f3be32b8c8c537d6c9ec6f09ed48fb491	@DISEASE$ (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, @PHENOTYPICFEATURE$, and multiple sclerosis.	has_symptom
+09aed872cb26ceafeb512a3c8c59fa09543d8194	3-Methylcrotonyl-CoA carboxylase deficiency (@DISEASE$) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, @PHENOTYPICFEATURE$, and multiple sclerosis.	has_symptom
+8902bb78598b751d14219c1a5cb223acab202761	The case of a newborn male with @DISEASE$ syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general @PHENOTYPICFEATURE$, is presented.	has_symptom
+77f2b837bc52ff03d45f59499aa0d34ec2488c4c	The case of a newborn male with trisomy 18 syndrome, having bilateral @PHENOTYPICFEATURE$, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general @DISEASE$, is presented.	false
+608dc8c927ac7c6bc7df438adf008c35995af3d5	The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral @PHENOTYPICFEATURE$ of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general @DISEASE$, is presented.	false
+0f1f23708e2a2309e7668bc2bd42339e86a4bfa9	The case of a newborn male with @DISEASE$ syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral @PHENOTYPICFEATURE$ of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.	false
+a1066ac2dcadb4b93aafc319087ca70697faee27	The case of a newborn male with trisomy 18 @DISEASE$, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral @PHENOTYPICFEATURE$ of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.	false
+a67cdb251cb335b431cee211fe14e1f34760aa8d	The case of a newborn male with @DISEASE$ syndrome, having bilateral @PHENOTYPICFEATURE$, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.	false
+4dd98d223a5e93a67359c47d158c5d7bcf142a29	The case of a newborn male with trisomy 18 @DISEASE$, having bilateral @PHENOTYPICFEATURE$, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.	false
+32ab50ee04071b0dddee7c7793707e5c65418a79	@DISEASE$ (CADASIL) is a hereditary small vessel disease responsible for an early onset @PHENOTYPICFEATURE$.	has_symptom
+a7f6378fccb483f14aadb2440d5b50c0ae9d13f9	@DISEASE$ (CADASIL) is a hereditary disease of the cerebral small blood vessels characterized by recurrent ischemic strokes, migraine, and progressive @PHENOTYPICFEATURE$.	has_symptom
+7b8643059a4503b57b26f29424f0f05a9bc46e96	A 64-year-old woman was admitted to our hospital for recurrent stroke and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ (CADASIL).	has_symptom
+0138af57486a406c293f9bef1615105f726751e8	CADASIL (@DISEASE$) is an inherited small vessel disease causing migraine, early strokes, @PHENOTYPICFEATURE$ and premature death.	has_symptom
+d5d53396a2eb663ef0d0f268994443c42ef67e9c	@DISEASE$ (CADASIL) is an inherited arteriopathy with clinical features that include recurrent lacunar stroke, migraine, and @PHENOTYPICFEATURE$.	has_symptom
+0f8217240fc6d130a08b82afa1d2366a6cac1e2a	@DISEASE$ (CADASIL) is an inherited disease due to cerebral microangiopathy presenting with variable pictures, including stroke, progressive @PHENOTYPICFEATURE$, and disability.	has_symptom
+8f6c10b387466f8cac1cb2355c82768a7e5a0154	@DISEASE$ (CADASIL) is a hereditary disease characterized by ischemic stroke, @PHENOTYPICFEATURE$, migraine and neuropsychological deficit.	has_symptom
+816b6882644318bae8524fc0a8e9c33999b06f4f	@DISEASE$ (CADASIL) is an inherited cerebral microangiopathy characterized by migraine, cerebrovascular events, and @PHENOTYPICFEATURE$.	has_symptom
+2a7a776f586d4645127e85fefb864dea8152c12d	Background and Purpose- @DISEASE$ (CADASIL) is the most common monogenic form of stroke usually presenting with migraine with aura, lacunar infarcts, and @PHENOTYPICFEATURE$.	has_symptom
+e6c04c0e03209748d33ab9db6e30f503a940c3c6	@DISEASE$ (CADASIL) is an adult-onset inherited disease, characterised by recurrent strokes, migraine and @PHENOTYPICFEATURE$.	has_symptom
+b96dd4615c4199defb6dfaeab0e0d0b6579d7927	@PHENOTYPICFEATURE$ caused by hereditary incus necrosis: a study of @DISEASE$.	has_symptom
+79159590f7737cef078536b297f37ca41b1d961f	Childhood encephalomyopathy with @DISEASE$, @PHENOTYPICFEATURE$, muscle wasting, and mental impairment.	has_symptom
+17ecfefcc3647e522d263368a0b7636691a49cb8	Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+da23598d8c1ac886d58e5cd474019a8dcdfaf424	Childhood encephalomyopathy with cytochrome c oxidase deficiency, @DISEASE$, muscle wasting, and @PHENOTYPICFEATURE$.	false
+235a0f1ad3e5a0e15e3fc35553ed0e213e8a01c3	Childhood encephalomyopathy with @DISEASE$, ataxia, muscle wasting, and @PHENOTYPICFEATURE$.	false
+bbdd8b62b1f1aea4dcaed41463bc4626e8b1e1d5	@DISEASE$ (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, @PHENOTYPICFEATURE$, brain damage, or even death.	has_symptom
+3e6759365c1abdfbbe188f3e85ef560836115fb7	Medium-chain acyl-CoA dehydrogenase deficiency (@DISEASE$) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, @PHENOTYPICFEATURE$, brain damage, or even death.	has_symptom
+bf44af4c968ddcb3e38ccf87b9da45c69298d9c8	Medium-chain fatty acids and acylcarnitines accumulate in @DISEASE$ (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with vomiting, @PHENOTYPICFEATURE$ and coma.	has_symptom
+a992de29c1d15acd54c3349f5e5da513b8c0c0e1	Medium-chain fatty acids and acylcarnitines accumulate in @DISEASE$ (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with @PHENOTYPICFEATURE$, seizures and coma.	false
+5c462689ec91883bbfdd2a39bbffe27a3f134dcf	Medium-chain fatty acids and acylcarnitines accumulate in medium-chain acyl-CoA dehydrogenase deficiency (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with @PHENOTYPICFEATURE$, @DISEASE$ and coma.	false
+1a8aafecfe0e2eb16380e18750b204b6d9357365	This drug should be omitted in the treatment of @PHENOTYPICFEATURE$ in patients with possible @DISEASE$.	has_symptom
+7b9571360902d5ae06eb2af509067150747c0582	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related @DISEASE$ (1/21) mutations were detected.	has_symptom
+f3a716b0108e244518b7ad9a29924be864fa0889	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren @DISEASE$ (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+4954c2ab19dbc5c42c114775e9a9b21b6737dd63	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @DISEASE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+f1c5c884443249e5a93cdbf8a987a5397fbb023f	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), @DISEASE$ (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+6c005aece291ef8973c994aa6d4a9029ff2d13b0	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor @DISEASE$ accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+3fde3db0c2b0f56d899ef6a0c6b1dd06564ec670	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), @DISEASE$ (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+c6ec1cf0c6e9b86e3d3d6cf361f751c30c328309	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related @DISEASE$ (1/21) mutations were detected.	false
+b6fb7a559cf1f208bfb007b8e1eafea64affb714	Genetically, infantile neuroaxonal dystrophy (7/21), @DISEASE$ (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+920ccc6c7ddf7a92153fde2b239825a1cd63d9cb	VLDLR-associated @DISEASE$ with Nonprogressive Congenital @PHENOTYPICFEATURE$ and a Diagnostic Neuroimaging Pattern.	has_symptom
+7ffb618d07e7092fdc9868861e491b2d2e9801ff	@DISEASE$ (PCH) comprises a rare group of neurodegenerative disorders with variable symptoms of @PHENOTYPICFEATURE$.	has_symptom
+415676fe6a3ada690e956d2494d66aff5f1ac55f	Fifteen children with @PHENOTYPICFEATURE$ and @DISEASE$, nonprogressive cerebellar hypoplasia or progressive cerebellar atrophy and 7 controls were included in this study.	has_symptom
+671295db0010bab0aceb9c1b26f96542791e8bca	Fifteen children with cerebellar ataxia and @DISEASE$, nonprogressive @PHENOTYPICFEATURE$ or progressive cerebellar atrophy and 7 controls were included in this study.	false
+8263e2d2d18fbffaa6f898f9da8b6e5691bd09d6	Fifteen children with @DISEASE$ and pontocerebellar hypoplasia, nonprogressive @PHENOTYPICFEATURE$ or progressive cerebellar atrophy and 7 controls were included in this study.	false
+8e400504c2b75ba762e734790c5862483d2e29d9	The discovery of additional genes for primary microcephaly, @DISEASE$, and spinocerebellar @PHENOTYPICFEATURE$ continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations.	has_symptom
+1f5ac8759dd2e79e999c9bf570a674ce6fa1b1c9	The discovery of additional genes for primary @PHENOTYPICFEATURE$, pontocerebellar hypoplasia, and spinocerebellar @DISEASE$ continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations.	false
+90168095e70a919b5be61b5dcbea11a4d61d2302	The discovery of additional genes for primary @PHENOTYPICFEATURE$, @DISEASE$, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations.	false
+dbd3d8a1206ee6b7bbf0bd0015969ac72bd29cf5	A familial late?onset hereditary @PHENOTYPICFEATURE$ mimicking @DISEASE$ caused by a novel TSEN54 mutation.	has_symptom
+6350a1f91618af33edc179d9220d35138c1aab52	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic @PHENOTYPICFEATURE$ and lethal congenital @DISEASE$.	has_symptom
+da0421a86ce8b1e944476af99358ce5dfe290f4e	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, @DISEASE$, progressive @PHENOTYPICFEATURE$ ataxia and lethal congenital pontocerebellar hypoplasia.	false
+c1587b3bcbfd9525d18d890eed01dd60c342c226	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive @PHENOTYPICFEATURE$ @DISEASE$ and lethal congenital pontocerebellar hypoplasia.	false
+a9092fce137a310eec1339d0ffdc4f955fd6e3e9	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic @DISEASE$ and lethal congenital pontocerebellar hypoplasia.	false
+5b136df3857edeedc95683ad017669ee21ed4af8	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2, @DISEASE$, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.	false
+a643411c4118a9d96c15caa18fdbb63f5ede530e	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive @PHENOTYPICFEATURE$ ataxia and lethal congenital @DISEASE$.	false
+fbd3c071dcac9be5abff21d19b4930ec6a2c8c57	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of @DISEASE$, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive @PHENOTYPICFEATURE$ ataxia and lethal congenital pontocerebellar hypoplasia.	false
+b07b8fe5743d0cb74e72042186bc0879b670af83	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of @DISEASE$, including inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.	false
+d53168d37fca0367e90aa1150f378a6700ece058	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital @DISEASE$.	false
+b2c345d19df4fb6d17e74733e4500d6beee26626	Clinical examination revealed hypotonia and @PHENOTYPICFEATURE$ with a convergent squint, nystagmus, myopia with @DISEASE$ on the MRI of the brain.	has_symptom
+9b1c8c0911c81f03b82992e52d5308c836df36ab	We report deletions that generate chimeric ATAD3B/ATAD3A fusion genes in individuals from four unrelated families with fatal congenital @DISEASE$, whereas a case with genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displays later-onset encephalopathy with cerebellar atrophy, @PHENOTYPICFEATURE$ and dystonia.	has_symptom
+528a18220f225e1f3481e5b13263577e0b30eaa7	Patients with @DISEASE$ secondary to cerebral palsy manifest with severe @PHENOTYPICFEATURE$ and often with neuromuscular scoliosis.	has_symptom
+f3c97d254bc7d8a2ce7a2cff38b6d2e9ef2d269a	Newer developments in OS for CP include emphasis on hip surveillance, minimally invasive procedures, use of external fixators instead of plates and screws, better understanding of lever arm dysfunctions (that can only be corrected by bony OS), orthopedic selective @PHENOTYPICFEATURE$-control surgery, and single-event multilevel lever arm restoration and anti spasticity surgery, which have led to significant improvements in gross motor function and ambulation, especially in @DISEASE$, athetosis, and dystonia.	has_symptom
+01c92dff44a3bf5ae1861e9941d3f7d2b08aea66	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @PHENOTYPICFEATURE$ and ataxia in the second or third decade of life.	has_symptom
+f42b330672a6d48aaa6149c0bebdf45ced79d1d6	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, @DISEASE$ and ataxia in the second or third decade of life.	false
+0801cb4cf050ca30ea8cd5a844a0233501981321	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, @DISEASE$, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, visual impairment and @PHENOTYPICFEATURE$ in the second or third decade of life.	false
+b4d83c3c10c08d9daeb4fb0a63d45738fe759ac0	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, visual impairment and ataxia in the second or third decade of life.	false
+bb264c2215e9af2a8daf0878873b4d360313a584	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, visual impairment and @PHENOTYPICFEATURE$ in the second or third decade of life.	false
+c05ca1ca3a7ba2ed7353eed9bf14b9986bbc352c	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @DISEASE$ and @PHENOTYPICFEATURE$ in the second or third decade of life.	false
+c332c25a8f953dcd804e535595e792bf649fb857	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, @DISEASE$, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, visual impairment and ataxia in the second or third decade of life.	false
+386b91998e9927683316892aa044e5b729d3cbb4	@DISEASE$ (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound @PHENOTYPICFEATURE$, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers.	has_symptom
+12c562b2742910b21051208a2507a1c80c9bdc2c	@DISEASE$ (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, @PHENOTYPICFEATURE$, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers.	false
+3a074e2ab65dd5203338acf54a65fe1996e9bd12	Craniofacial-deafness-hand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound @DISEASE$, a small and short nose with slitlike nares, @PHENOTYPICFEATURE$, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers.	false
+476ac43a4aaae7b9e39de70aaca4f1e33b537f44	By building PLs on EEG epilepsy signals smoothed by a weighted Fourier series (@DISEASE$) expansion, we compared the before and during phases of a @PHENOTYPICFEATURE$ attack in a patient diagnosed with left temporal epilepsy and successfully identified site T3 as the origin of the seizure attack.	has_symptom
+ebfba48a554ec42faafdd5d0368d4944d29a7a46	By building PLs on EEG epilepsy signals smoothed by a weighted Fourier series (@DISEASE$) expansion, we compared the before and during phases of a seizure attack in a patient diagnosed with left temporal epilepsy and successfully identified site T3 as the origin of the @PHENOTYPICFEATURE$ attack.	has_symptom
+e5082e95316361b3d1817101f40d5f4b50dff16c	@DISEASE$ is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, @PHENOTYPICFEATURE$) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation.	has_symptom
+431f9dc344726cb298f07344cb85003e035a352d	CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (@PHENOTYPICFEATURE$, myopathy, epilepsy, mental retardation) and extraneurological (@DISEASE$, nephropathy) signs that are responsive to CoQ10 supplementation.	false
+f91f6d45af20808aae1139c59842f8e46578867c	@DISEASE$ is a rare treatable mitochondrial disorder with various neurological (@PHENOTYPICFEATURE$, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation.	false
+4b53e4be4d9c237c0729b12c8aa81fff1dc911c3	CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (@PHENOTYPICFEATURE$, @DISEASE$, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation.	false
+11708622fc5773e5b7db78a6b6e6734d26fc032e	CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (@PHENOTYPICFEATURE$, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, @DISEASE$) signs that are responsive to CoQ10 supplementation.	false
+d322aaa4288ee59249b6d11afb7aefc7acb4de6b	CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (@PHENOTYPICFEATURE$, myopathy, epilepsy, @DISEASE$) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation.	false
+93d0ef06017f6dcfa976f5cb8ae718b35d50d2bc	Muscle @DISEASE$ has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, ataxia, @PHENOTYPICFEATURE$), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	has_symptom
+a7ddeccf3f776120e311a3e1901dd7ec87a90ccf	Muscle @DISEASE$ has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (@PHENOTYPICFEATURE$, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+85553351f7fdcd3cfc2e03684c7f6e28d85067b5	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent @DISEASE$; 2) brain involvement (@PHENOTYPICFEATURE$, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+58122147d6d00bdf4ce8f39e9910b3b90cd98c88	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, @PHENOTYPICFEATURE$, @DISEASE$), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+4012e7af80521a2187595e0e91194d5e877be1ce	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (@PHENOTYPICFEATURE$, ataxia, @DISEASE$), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+ccb6720e13046b87a54f172356dc47fb61bbd02a	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent @DISEASE$; 2) brain involvement (seizures, @PHENOTYPICFEATURE$, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+a53b472384f8fb9d269f46287282325e36433f0d	Muscle @DISEASE$ has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, @PHENOTYPICFEATURE$, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+f121e4bc7346552836a9d6ee0765cecd4f389390	The syndrome is commonly called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), although some patients have additional clinical findings including @PHENOTYPICFEATURE$, hypogonadism, hydronephrosis and psychiatric illnesses.	has_symptom
+52cda3e06a85789f1001b36d6a4944dc68464c2e	The syndrome is commonly called DIDMOAD (@DISEASE$, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+03eb0ca5a7f7acc1ea4b3d90f7a58e346426cb45	The syndrome is commonly called DIDMOAD (diabetes insipidus, @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+e5c2d4e65a6aa55ba3b235e033be0aa613e4baf0	The syndrome is commonly called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$), although some patients have additional clinical findings including @DISEASE$, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+cc5ead679cb4a2aac5ef1cbdef4f51f8e5cd3a4b	The syndrome is commonly called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$), although some patients have additional clinical findings including ataxia, @DISEASE$, hydronephrosis and psychiatric illnesses.	false
+efc5ad67ddafeec5c4d52155764cd7e1caede23e	The syndrome is commonly called DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness), although some patients have additional clinical findings including @DISEASE$, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+32dfec266e0de1cdb4407583f9e187770bfc6397	The syndrome is commonly called DIDMOAD (@DISEASE$, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+c8cc6690c5327e8dc90c28d0a904212a02efb311	The syndrome is commonly called DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness), although some patients have additional clinical findings including ataxia, @DISEASE$, hydronephrosis and psychiatric illnesses.	false
+2cee947e0a1bb96090de10b4150760b743330676	The syndrome is commonly called DIDMOAD (diabetes insipidus, @DISEASE$, @PHENOTYPICFEATURE$ and deafness), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+134897408bb99f6461b78ce5b5b5baacf1297968	The syndrome is commonly called @DISEASE$ (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+60229e403b3254c5086de83e9ffb1d9d4552352f	The syndrome is commonly called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$), although some patients have additional clinical findings including ataxia, hypogonadism, hydronephrosis and psychiatric illnesses.	false
+a92fdafc7cfbe7dcae561b6df3b673a9d94d3157	We report the case of a 47-year-old patient for whom we diagnosed a @DISEASE$ in view of a late neurological syndrome in association with @PHENOTYPICFEATURE$ and bilateral horizontal nystagmus.	has_symptom
+6d4b3f528ee42883792255928088e0d3f31afb2a	Here we present a 44 year old patient who presented to our hospital with central respiratory failure, cognitive impairment, @PHENOTYPICFEATURE$ and parkinsonism and was first diagnosed with @DISEASE$.	has_symptom
+0fae457131d56edfe077696d8daf5bbb0ad86d36	Here we present a 44 year old patient who presented to our hospital with central @DISEASE$, @PHENOTYPICFEATURE$, ataxia and parkinsonism and was first diagnosed with Wolfram syndrome.	false
+9d75195e42c6e09a3e92f7d4b09e75c86afdb3a4	Here we present a 44 year old patient who presented to our hospital with central respiratory failure, @PHENOTYPICFEATURE$, ataxia and parkinsonism and was first diagnosed with @DISEASE$.	false
+2e7a09467dc140b3cd9db39129cdb2a3bd2323d1	Here we present a 44 year old patient who presented to our hospital with central respiratory failure, @PHENOTYPICFEATURE$, @DISEASE$ and parkinsonism and was first diagnosed with Wolfram syndrome.	false
+9bfa437bc0ce387dc69b8eaa5416c7119fe4c41b	This review briefly presents such syndromes, including Alzheimer disease, ataxia-telangiectasia, Down syndrome/trisomy 21, Friedreich @PHENOTYPICFEATURE$, Huntington disease, several disorders of mitochondria, myotonic dystrophy, Parkinson disease, Prader-Willi syndrome, Werner syndrome, @DISEASE$, mitochondrial disorders affecting oxidative phosphorylation, and vitamin B(1) deficiency/inherited thiamine-responsive megaloblastic anemia syndrome as well as their respective relationship to malignancies, cancer, and aging and the nature of their inheritance (including triplet repeat expansions), genetic loci, and corresponding functional biochemistry.	has_symptom
+ee12b67ab4fbcd84b425fa78fa23b785fbbadfd3	Ophthalmologically relevant are @DISEASE$, Friedreich's @PHENOTYPICFEATURE$ and Charcot-Marie-Tooth disease.	has_symptom
+7eef5173b1e3430377e9b3700a12b0e913a0f93c	The most common mitochondrial optic neuropathies include Leber's hereditary optic neuropathy and autosomal dominant optic atrophy, but the optic nerve can be affected in other syndromic conditions, such as @DISEASE$ and Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+ff124d4a995fa1327d83e24702afb9cfd540de6c	In this review some neurological diseases, such as, myotonic dystrophy, Crow-Fukase syndrome, @DISEASE$ (DIDMOAD), Friedreich @PHENOTYPICFEATURE$, spinal muscular atrophy of the Kennedy-Alter-Sung type, amyotrophic lateral sclerosis, Parkinson-dementia, and MELAS are discussed in relation to, glucose intolerance.	has_symptom
+e24af75b9f3876396047e1eda77faa0e65d3d706	In this review some neurological diseases, such as, myotonic dystrophy, Crow-Fukase syndrome, Wolfram syndrome (@DISEASE$), Friedreich @PHENOTYPICFEATURE$, spinal muscular atrophy of the Kennedy-Alter-Sung type, amyotrophic lateral sclerosis, Parkinson-dementia, and MELAS are discussed in relation to, glucose intolerance.	has_symptom
+a3df711346f8fdf1fd30f53c2311265b911af770	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, @PHENOTYPICFEATURE$ and peripheral neuropathy.	has_symptom
+7d77508a4520c9317bc59b909283e64f9c616e73	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia and @PHENOTYPICFEATURE$.	false
+aee8378bc42737c74251f8c7c1677ce47b4bf73e	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including @PHENOTYPICFEATURE$, ataxia and peripheral neuropathy.	false
+503386e71b6f820232b6e3bf059a4786b5ac7578	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, @DISEASE$, optic atrophy and a number of neurological symptoms including @PHENOTYPICFEATURE$, ataxia and peripheral neuropathy.	false
+bf54cd23a401c8e8796bd4d8882b96f7d7a92567	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including @PHENOTYPICFEATURE$, @DISEASE$ and peripheral neuropathy.	false
+c96fce0bf1de940d1ba8500c1ba1d728c4fdc537	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$ and a number of neurological symptoms including deafness, @DISEASE$ and peripheral neuropathy.	false
+a6c82953956be6f55d8425f297c48c7818dfe797	@DISEASE$ is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$ and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy.	false
+fb8317c9d13e331983064b9f516c6df892fd7381	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, @DISEASE$, optic atrophy and a number of neurological symptoms including deafness, ataxia and @PHENOTYPICFEATURE$.	false
+c9584559bc42efa3812db28fef9130ae5431a32b	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+89f31ce3e2cb30a3b3ef92a1f574b8207392002a	Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$ and a number of neurological symptoms including deafness, ataxia and peripheral neuropathy.	false
+101df9c2675193a4987d754b2975711633f4da85	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar @PHENOTYPICFEATURE$ with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, @DISEASE$, Wolf-Hirschhorn syndrome and Leigh syndrome.	has_symptom
+9b42b00d373d5b6c709a5e76678b21b397cd444d	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, @DISEASE$ and Leigh syndrome.	false
+ae07ca81b4c2a7beb8ec34ee1ba5cd680c2ee600	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and @DISEASE$.	false
+a2edd5c07b9903293ba0e83afc7754d3bfde475f	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+2cb69145ccaf0995fdd6d2b88657f9b3def1aaf4	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, @DISEASE$, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+fcbf0a543846c103627b6982ec0fcd23bf1e9ecf	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive @DISEASE$, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+51148a902e42611792803d38969e9fbb374ed091	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and @DISEASE$.	false
+5cf83e9f2a6d1314d4face34899aaa80ad42c1e3	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+df42b03902b22fa06a761e475f1d8d6cfafe2cb2	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive @DISEASE$, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+aaecaa029ec2b691d12cf493a69f0064730a484c	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar @DISEASE$ with encephalopathy, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+cb11264f687a812311477a5ed10e76199348fb36	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, @DISEASE$ and Leigh syndrome.	false
+4c81fe2a4228afa24da57598ea75f76c48cad797	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar @DISEASE$ with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+441f3190dfafb3b58111f90f5c8940b8fd13d881	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, Mohr-Tranebjaerg syndrome, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, @DISEASE$, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+494dd0dab7523dcf11caa53bd6558c35f60b36de	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, @PHENOTYPICFEATURE$, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that @DISEASE$ should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	has_symptom
+ed6c6b47afdbcc725b6cca8192692e028b07e47d	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique @DISEASE$ with prominent optic atrophy and diabetes mellitus.	false
+0cceb3fe636f6c9741dd6c10cc9b7902a90cff31	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including @DISEASE$, ataxia, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+a8f248ea9be0ed033c3739c4d39b3e3c8931ecba	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, @DISEASE$, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+02407fbc2007037edd32671a8727fbfc019bf160	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, @PHENOTYPICFEATURE$, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, @DISEASE$, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+f3e6131ee5d24f53051f484f66cfd531752ae08d	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3636c0ad443b199bf99457346def898a22da0a9c	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that @DISEASE$ should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+915328341f108feb6466ce8c02f806b3c76ff1c6	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of @PHENOTYPICFEATURE$, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that @DISEASE$ should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+019a1eeba7842fb371eceb67c9880863d4345b6a	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, @PHENOTYPICFEATURE$, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that @DISEASE$ should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+f64bb7427065ea2e94600436338d70909208bbb8	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, @DISEASE$, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+16ff305937397b0183d64115f7b376b8806b7128	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that @DISEASE$ should be reemphasized as a unique hereditary neurodegenerative disorder with prominent @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+0cf192299b71d828d023ec0ed4107d45a6cdb6ff	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of @PHENOTYPICFEATURE$, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including @DISEASE$, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+48ce103cf0568258ce122129e8f1330c3c1afd78	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and @DISEASE$.	false
+3b0f56e6105e8c978fcc4061caf5cd1f3a2bd91a	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of @PHENOTYPICFEATURE$, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, @DISEASE$, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+cadae3c55089ccf9a39c716bdfbb6a5b2719a611	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, @DISEASE$, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+327e949a5b538b770352088eaaebe84a636f74ca	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of @PHENOTYPICFEATURE$, deafness, @DISEASE$, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+1c2d13cddaeea3335d97d3b7f75963a77a462f29	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, @PHENOTYPICFEATURE$, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including @DISEASE$, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+db5600e2291d8a6de1b3b627619294b22ea7d309	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of @PHENOTYPICFEATURE$, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique @DISEASE$ with prominent optic atrophy and diabetes mellitus.	false
+c560bd5bfa664f00edbf48d233bae638b214dc03	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of @PHENOTYPICFEATURE$, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and @DISEASE$.	false
+07abc6a1156187f903889d5f1f73919f053f7404	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including @DISEASE$, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+eec884a9a7955d2b9b63e606dfea15ab50db91bf	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, @PHENOTYPICFEATURE$, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and @DISEASE$.	false
+bb37f312e12361e4c33fe459c9b4fc3bb1939c89	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, @PHENOTYPICFEATURE$, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique @DISEASE$ with prominent optic atrophy and diabetes mellitus.	false
+d252129aa83d36cc4e732bfde7b3b97412b336e3	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, @DISEASE$, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+3a5ba0f841db7b7a9fe9f17ae3b5992c0c555e9c	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+48545730999f1f804680b9f798dd75ae60ddbb7c	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique @DISEASE$ with prominent @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+c6dbc2130365fdfa49493248bc005762979a4ba9	@DISEASE$ (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, @PHENOTYPICFEATURE$, cutaneous and gastrointestinal abnormalities.	has_symptom
+a3fe51e3f6bf90c17b21c0f4d6bfccf0c7e1aa51	The main features of the @DISEASE$ are syndactyly, pre-axial polydactyly, craniosynostosis, @PHENOTYPICFEATURE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	has_symptom
+91a8825f54e924d95c4a1ce14f4a927cf70dcc69	The main features of the @DISEASE$ are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+552c1155de0376928b211dcc7a93dddded8a72a3	The main features of the @DISEASE$ are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+31a6dbe327eca7b893431f93bfb1fba715b8d865	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+c04589aab68d5c4817f42dfeafdc1222f5286c46	The main features of the @DISEASE$ are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+b4516cdd84e098965bef7c2da4298c240ed4174b	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, craniosynostosis, @DISEASE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+98b0d49ca84d5312659322619f5731b510e1110c	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+4d780d45e4ba890de0647ef10599af9095e9d8da	The main features of the Curry-Jones syndrome are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+21037d9600f224ca788b22c73418373ff05cb67d	The main features of the Curry-Jones syndrome are @PHENOTYPICFEATURE$, pre-axial polydactyly, @DISEASE$, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+5341635c4485ef864159f0c9cede381a37a78723	The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, @DISEASE$, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or @PHENOTYPICFEATURE$ and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+d4e1b49f782d79ea822f6a80c58a47582714bfc0	Craniofacial abnormalities, @PHENOTYPICFEATURE$, polysyndactyly and abnormal skin and gut development--the @DISEASE$.	has_symptom
+de28782724c920b9e0fa7305a3fdc97e26024e10	Miller-Dieker syndrome (@DISEASE$) is a rare disorder characterized by type I lissencephaly and a distinctive facial appearance that may include prominent forehead, bitemporal hollowing, and @PHENOTYPICFEATURE$.	has_symptom
+ccaaa5208dbec8914955d7b85e4e3ec1944b6e70	@DISEASE$ (MDS) is a rare disorder characterized by type I lissencephaly and a distinctive facial appearance that may include prominent forehead, bitemporal hollowing, and @PHENOTYPICFEATURE$.	has_symptom
+031727e2e6e6ee90ae7cf67e8d7cab1cf0a017c7	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	has_symptom
+1ccc8cf82e243835220d2466b9364eeac963e7e3	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, @DISEASE$, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+b324ac672a790aa91e936164896e72a68bba5cf4	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+d27b7ad0051fe054e88a3b5f303dace595e57037	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+b283531dd980c4331fefe3552eb77eff8d19e55f	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, cleft palate/bifid uvula, hypodontia was reported.	false
+1283165c088129f54f28232f616a1ee660ae1fbd	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+17fe29afd761d0c6487fe5d78c51c6deab58b3b0	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @DISEASE$, hypohidrosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+a6eab10f006944f4f0bc6e6ad44087dca62ce75d	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @DISEASE$, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+2a93a08e652356ec4cca785a6031df82e09caab8	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+892905d4158c9753f825cee298a6172093ca6b05	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+dd7a7992fb6f4ea3a10d96f1d543c07776109286	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+2e386bb86a81871a9924d01c9b6d1cc0d4ab95dc	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+83adfd512b9a105175d9674f5103378b916f800b	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	false
+2cfce3757e826972ed54cc9474263cfc553254e6	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and hydrocephalus).	has_symptom
+677fb135d60f3b4445d90ccdec97ed8b358c62d3	SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+3229e0938e0775ecd9be91acef2f77048c2e2608	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, spasticity and @PHENOTYPICFEATURE$).	false
+432775092fadfd5d6fa03692b456a7ab5dcdc940	Mutations in the human gene result in a broad spectrum of phenotypes (the @DISEASE$) that include devastating neurological disorders such as @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+b8dae83b78a77a127fc54117bde2f512331d9713	Mutations in the human gene result in a broad spectrum of phenotypes (the CRASH-syndrome) that include devastating neurological disorders such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e3ed66abfcfbf035fe03b4dff2634b7127118989	Mutations in the human gene result in a broad spectrum of phenotypes (the CRASH-syndrome) that include devastating @DISEASE$ such as spasticity and @PHENOTYPICFEATURE$.	false
+828fafb520ce413b77f12889ae4a866546b5bbef	Mutations in the human gene result in a broad spectrum of phenotypes (the @DISEASE$) that include devastating neurological disorders such as spasticity and @PHENOTYPICFEATURE$.	false
+d375be767686e30c5bcf527b5402797bd917312f	Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as @DISEASE$, Down syndrome, @PHENOTYPICFEATURE$, type 1 diabetes mellitus, and cystic fibrosis.	has_symptom
+226ab6c76ccffb8cf9189a05b19734e7b050eb53	We propose that the association among @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, cardiac anomaly, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.	has_symptom
+6fa14c8a9cbee3cf1ce115b119ab0c508924f234	We propose that the association among @DISEASE$, spina bifida, epilepsy, @PHENOTYPICFEATURE$, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.	false
+d564ff1ce5dbd395f8b2747885d0bc613784c7c7	We propose that the association among DiGeorge syndrome, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.	false
+f95abd1dc6bdf3e5f076dbe1820ea465c1356187	We report, for the first time, the case of a patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizures and epilepsy.	has_symptom
+2e7d5b5adcebb69b8aff1c26dbb2db3ebd341a99	We report, for the first time, the case of a patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+38a05aa09b2c78b15a6c8fb40cef1dd90696a758	We report, for the first time, the case of a patient with DiGeorge syndrome with @DISEASE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+365234afef1b870e8976c0c4e8b7636e1112bb71	A patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.	has_symptom
+a43b41b7cc0fe58cb9d854655aeb1a1a5fa14ddf	A patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+ea64d0751866af64269c9a3c166a5274164d8a83	A patient with DiGeorge syndrome with @DISEASE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	false
+587534bae739a1b4731049c18211d866f6cd5bf5	The XP-A (XP12BE) and @DISEASE$ (XP18BE) patients exhibited progressive neurological deterioration with @PHENOTYPICFEATURE$.	has_symptom
+10f65835f58229ea6d89ff79a3228869b7e83b4a	The XP-A (XP12BE) and @DISEASE$ (XP18BE) patients exhibited @PHENOTYPICFEATURE$ with sensorineural hearing loss.	false
+d1f8860e9c1baeb3b27280f173579b5989de99e3	The XP-A (XP12BE) and XP-D (XP18BE) patients exhibited @PHENOTYPICFEATURE$ with @DISEASE$.	false
+07232dabfea6e45c0cb40e1da268814253d921f9	In @DISEASE$ other associated features are present such as @PHENOTYPICFEATURE$, suboptimal growth velocity, and/or hormonal imbalances, and it is likely that osteonecrosis may be secondary to systemic abnormalities, although specific factors have not been identified.	has_symptom
+15e12aafc2a9ed27496a86ac4da14ae9c4532336	The frequent association of @PHENOTYPICFEATURE$ and retardation of skeletal maturation in @DISEASE$ has prompted an investigation of growth-related hormones in this condition.	has_symptom
+e2fb80d7e03391455dff02500260415e425e98e6	It is well known that patients with @DISEASE$ have skeletal growth disturbances such as @PHENOTYPICFEATURE$ and retardation of bone maturation.	has_symptom
+2cc7b18e010f47f3b4f1110c60bf7a5919c52ade	Genetic disorders with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated @DISEASE$ and in the nuclear DNA-associated dominant optic atrophy, to more widespread pathologies, including myopathies, @PHENOTYPICFEATURE$, encephalomyopathies, cardiopathies, or complex multisystem disorders.	has_symptom
+8b04dc90db81408d0bdadf8aa58f86e53ae8d2e7	Genetic disorders with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated Leber's hereditary optic neuropathy and in the nuclear DNA-associated dominant @PHENOTYPICFEATURE$, to more widespread pathologies, @DISEASE$, peripheral neuropathies, encephalomyopathies, cardiopathies, or complex multisystem disorders.	false
+72d0870f520265bca07103c6b5f9e045ad2d5f0b	Genetic disorders with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated @DISEASE$ and in the nuclear DNA-associated dominant @PHENOTYPICFEATURE$, to more widespread pathologies, including myopathies, peripheral neuropathies, encephalomyopathies, cardiopathies, or complex multisystem disorders.	false
+e009bd0f91dbf68f09ffb422ee86ded944924caa	Genetic disorders with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated Leber's hereditary optic neuropathy and in the nuclear DNA-associated dominant @PHENOTYPICFEATURE$, to more widespread pathologies, including myopathies, peripheral neuropathies, encephalomyopathies, cardiopathies, or complex @DISEASE$.	false
+4663075e29e39baa32388aa57fe41f702658263e	@DISEASE$ with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated Leber's hereditary optic neuropathy and in the nuclear DNA-associated dominant @PHENOTYPICFEATURE$, to more widespread pathologies, including myopathies, peripheral neuropathies, encephalomyopathies, cardiopathies, or complex multisystem disorders.	false
+94d63aead053ae490ae667fafd5c6a17c0178be0	Genetic disorders with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated Leber's hereditary optic neuropathy and in the nuclear DNA-associated dominant @PHENOTYPICFEATURE$, to more widespread pathologies, including myopathies, @DISEASE$, encephalomyopathies, cardiopathies, or complex multisystem disorders.	false
+9070fed127ab3cdbc6e18e3fcb19c9ff760e0dac	[Case of @DISEASE$ with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and @PHENOTYPICFEATURE$].	has_symptom
+ee239233b015c9263483b470e9b5c724a87f2f9b	[Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting @PHENOTYPICFEATURE$, @DISEASE$ and peripheral neuropathy].	false
+b79e7ee299d75b5f0f34d3759c2f989cc061edcf	[Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting @PHENOTYPICFEATURE$, dilated cardiomyopathy and @DISEASE$].	false
+9ece363ba36d03247e850cb734d5a1527703ec07	[Case of @DISEASE$ with mitochondrial DNA 11778 mutation exhibiting @PHENOTYPICFEATURE$, dilated cardiomyopathy and peripheral neuropathy].	false
+ac5e7e4416024c2281bd5e0f5f08527ebf39289d	We report the case of a 28-year-old woman with @DISEASE$ (LHON) associated with cerebellar ataxia, dilated cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+df2920697044b5c1f2822c8845bf17531597ebba	We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with @PHENOTYPICFEATURE$, @DISEASE$ and peripheral neuropathy.	false
+e16f4135fa42d5b633a9f43cfd8c125c35fea80b	We report the case of a 28-year-old woman with @DISEASE$ (LHON) associated with @PHENOTYPICFEATURE$, dilated cardiomyopathy and peripheral neuropathy.	false
+4ff1e3198ec547b4cb663272e1cc7bab5b3bc284	We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with @PHENOTYPICFEATURE$, dilated cardiomyopathy and @DISEASE$.	false
+7225f859e28330ca193a6ceaa3122595857d7e01	@DISEASE$ (MLIV, MIM 252650) is an autosomal recessive lysosomal storage disorder that causes mental and motor retardation as well as @PHENOTYPICFEATURE$.	has_symptom
+a7a3b7f539732864fb5ef3eaefd1801925981eab	@DISEASE$ (MLIV) is a neurodegenerative, recessive, lysosomal storage disorder characterized by psychomotor retardation and @PHENOTYPICFEATURE$ due to various ophthalmologic abnormalities.	has_symptom
+19b8241a4e4d86ab2252c29ce453ee3307b57373	@DISEASE$ is a rare autosomal recessive lysosomal storage disorder with psychomotor developmental delay, @PHENOTYPICFEATURE$, and achlorhydria.	has_symptom
+f9cf77f7a2df968915df83459b732981b431e65f	@DISEASE$ is a neurodegenerative lysosomal disease clinically characterized by psychomotor retardation, @PHENOTYPICFEATURE$, and achlorhydria.	has_symptom
+e5f22c19d226d79cfd2982acb63f6919b91b1e97	@DISEASE$ (MLIV) is a rare neurodegenerative disorder characterized by severe psychomotor delay and @PHENOTYPICFEATURE$.	has_symptom
+7b42d663c5c1572c0615726d748483170717c84b	Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive @PHENOTYPICFEATURE$ and cardiomyopathy because of severe @DISEASE$.	has_symptom
+fd33230074d1c9a080411ac2ae96058c2b9d9fe5	@DISEASE$ is a metabolic disorder that is associated with @PHENOTYPICFEATURE$.	has_symptom
+2507846e4c91af43af6874aa554c4232901a460a	Other neurodevelopmental disorders have been investigated using this technique, including genetic syndromes associated with @PHENOTYPICFEATURE$ such as fragile X syndrome (FXS) and @DISEASE$ (SLOS).	has_symptom
+62dc54fa94051db0d2ced4e73e017ae06a08b918	The @DISEASE$ is a mental retardation/malformation syndrome with behavioral components of @PHENOTYPICFEATURE$.	has_symptom
+f15fb26cab5b97b35dda387e073d3ff1890b4c2d	The Smith-Lemli-Opitz syndrome is a @PHENOTYPICFEATURE$/@DISEASE$ with behavioral components of autism.	false
+76be1f367f2846e4bfed6165304c2db2d96736df	The Smith-Lemli-Opitz syndrome is a @PHENOTYPICFEATURE$/malformation syndrome with behavioral components of @DISEASE$.	false
+e85b6ed645115a3e53ba0789ca9ddcb78895e36f	The @DISEASE$ is a @PHENOTYPICFEATURE$/malformation syndrome with behavioral components of autism.	false
+d5c888e0e26b033a82ac05379665abb9642c6e66	This was an observational case series, wherein participants with @DISEASE$ underwent extensive behavioral evaluation of cognitive function, adaptive function, @PHENOTYPICFEATURE$ symptoms, and problem behaviors, in addition to parent report of developmental milestones.	has_symptom
+938f5c3f05c328c3b9091a96036cdc60b27ffd57	Other neurodevelopmental disorders have been investigated using this technique, including genetic syndromes associated with @PHENOTYPICFEATURE$ such as fragile X syndrome and @DISEASE$.	has_symptom
+133646b4e061d60844cbda500015ea9c810764a1	@DISEASE$ (SLOS) is a genetic syndrome associated with multiple congenital malformations, mental retardation, and @PHENOTYPICFEATURE$ spectrum behaviors.	has_symptom
+1648af7a5131d792a32aab2e1dd08165bff4c4af	Smith-Lemli-Opitz syndrome (SLOS) is a genetic @DISEASE$ associated with multiple congenital malformations, @PHENOTYPICFEATURE$, and autism spectrum behaviors.	false
+8cb1c6785d0b295a0329bb3f3dcdd153f088bb3c	Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome associated with multiple @DISEASE$, @PHENOTYPICFEATURE$, and autism spectrum behaviors.	false
+9bc92e51040e83f8dc95bdd530a46597fdaaeb20	@DISEASE$ (SLOS) is a genetic syndrome associated with multiple congenital malformations, @PHENOTYPICFEATURE$, and autism spectrum behaviors.	false
+724162c003641e3eb9d3ff884b3f6d65f2d61547	Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome associated with multiple congenital malformations, @PHENOTYPICFEATURE$, and @DISEASE$ spectrum behaviors.	false
+ef0731b12e2cd3f3c25cf6de0fb6acc0858914fe	The behavioral phenotype of @DISEASE$ demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, language impairment, sleep cycle disturbance, self-injurious behavior, and @PHENOTYPICFEATURE$ spectrum behaviors.	has_symptom
+592f0c5ff2af33327df0891d07a662f9eb4ae8a9	The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, @PHENOTYPICFEATURE$, sleep cycle disturbance, self-injurious behavior, and @DISEASE$ spectrum behaviors.	false
+8a4593e9fee05585bf6c5e58322bd8b71bd78933	The behavioral phenotype of @DISEASE$ demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, @PHENOTYPICFEATURE$, sleep cycle disturbance, self-injurious behavior, and autism spectrum behaviors.	false
+83f9acdd8e1e709c8d4545224b407c25ef2ee19f	Although @DISEASE$ (SLOS), a genetic condition of impaired cholesterol biosynthesis, is associated with @PHENOTYPICFEATURE$ [Tierney et al., 2001; Am J Med Genet 98:191-200.], the incidence of SLOS and other sterol disorders among individuals with autism spectrum disorders (ASD) is unknown.	has_symptom
+47a9fee0ad77d73c048578ab94f57793acf70d7d	Abnormal serotonergic development in a mouse model for the @DISEASE$: implications for @PHENOTYPICFEATURE$.	has_symptom
+3c41f4153477697a3e829bf816953f835e5ee843	This paper describes several genetic diseases consistently associated with @PHENOTYPICFEATURE$ (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and @DISEASE$) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them.	has_symptom
+1d250255eab48281a8f732c66740b0823c87f68b	Adult onset Still disease (@DISEASE$) is a chronic inflammatory disease which presents with fever, arthritis and typical @PHENOTYPICFEATURE$.	has_symptom
+27381596647c6612406cb1447efcd20662e24eab	@DISEASE$ (AOSD) is a chronic inflammatory disease which presents with fever, arthritis and typical @PHENOTYPICFEATURE$.	has_symptom
+ad9eb860b70bf2c1eae4adc7624361f4a35be3f2	Adult onset Still disease (@DISEASE$) is a chronic inflammatory disease which presents with @PHENOTYPICFEATURE$, arthritis and typical skin rashes.	false
+3564ba9d18b8b16581267b8db5745e2657a50a21	Adult onset Still disease (AOSD) is a chronic inflammatory disease which presents with @PHENOTYPICFEATURE$, arthritis and typical @DISEASE$.	false
+f8037edf7a4a4dc182c204b4639bf59eece84e40	Adult onset Still disease (AOSD) is a chronic inflammatory disease which presents with @PHENOTYPICFEATURE$, @DISEASE$ and typical skin rashes.	false
+39bd6d57e24c5676b6b4dbad732b726962ebf6c4	@DISEASE$ (AOSD) is a chronic inflammatory disease which presents with @PHENOTYPICFEATURE$, arthritis and typical skin rashes.	false
+319502329e79fd4ca4d763aa23d94b5bb4b9482f	This study evaluated gait using lower-trunk accelerometry and investigated relationships between @PHENOTYPICFEATURE$, postural instability, handgrip myotonia, and weakness in lower-limb and axial muscle groups commonly affected in @DISEASE$ (DM1).	has_symptom
+1e6856d9a2b7770a16c90ea04dfd3210476685a0	A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic @PHENOTYPICFEATURE$, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (@DISEASE$).	has_symptom
+ea49c02aca10b46c6c602c4f1f660f6b849a6a43	Mucopolysaccharidosis VI (@DISEASE$) with @PHENOTYPICFEATURE$ and pupillary membrane remnants.	has_symptom
+5de1f34c65d0616069c909e286f0cdb36fa689d4	@DISEASE$: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and @PHENOTYPICFEATURE$.	has_symptom
+00a60f6ef8162804229418fd7b285517040f2612	Osteosclerotic metaphyseal dysplasia: a @PHENOTYPICFEATURE$ that may mimic lead poisoning in a child with hypotonia and @DISEASE$.	false
+127db6f9bb392d2041b42b89a1e2de124e3353e3	@DISEASE$: a @PHENOTYPICFEATURE$ that may mimic lead poisoning in a child with hypotonia and seizures.	false
+5f5d917bf25807f18469c8e55ad43995912b545c	@DISEASE$ (OSMD) is a very rare autosomal-recessive disorder and a distinctive type of osteopetrosis, characterized mainly by skeletal fractures and deformity, osteosclerosis, and sometimes hypotonia, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+5ca88e94de3015eec65e4a489596ed90d9754cd1	Osteosclerotic metaphyseal dysplasia (@DISEASE$) is a very rare autosomal-recessive disorder and a distinctive type of osteopetrosis, characterized mainly by skeletal fractures and deformity, osteosclerosis, and sometimes hypotonia, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+0067eb678c123b619c11c00c0a413b0ba2358f13	As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, @PHENOTYPICFEATURE$ and kyphosis (@DISEASE$, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	has_symptom
+117112d8e11922bb07915a80b772a9821aa4f170	As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of @PHENOTYPICFEATURE$, coloboma, @DISEASE$ and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	false
+6d97c21e71ec7295ee63dccb4c11a9b7c766099a	As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of @PHENOTYPICFEATURE$, @DISEASE$, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	false
+499a5c178c9dfc7cb1c237d388b92f9df134f2ad	As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of @PHENOTYPICFEATURE$, coloboma, cataract and kyphosis (@DISEASE$, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	false
+5b0fbdb844a4bc98d03c17234099368a171e5097	As part of a large-scale, systematic effort to unravel the molecular causes of @DISEASE$, we have previously described a novel syndrome consisting of @PHENOTYPICFEATURE$, coloboma, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	false
+1c0c1a93a603014b573d26012ebf47e854ef603f	Quality of life and survival of @DISEASE$ patients are improved with aggressive supportive care including optimized respiratory and nutritional care and management of scoliosis and @PHENOTYPICFEATURE$.	has_symptom
+22f7d86f34953337db326322dea1fb3718db22e8	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT) or autosomal dominant hypocalcaemic @PHENOTYPICFEATURE$ (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	has_symptom
+6765ce8616cfdaffa1722eb3cf30dca333324355	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+61f37c134423fb590c3859dc798c212be3afdba7	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric @PHENOTYPICFEATURE$ (FHH), @DISEASE$ (NSHPT) or autosomal dominant hypocalcaemic hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+ef3e6f726ca64cb47b7ac0f3b9ad8fbfebf5c92c	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT) or autosomal dominant @PHENOTYPICFEATURE$ hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+4f8021328db50a61352313dea4b57f7a95fffe82	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric @PHENOTYPICFEATURE$ (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemic @DISEASE$ (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+0ae9a13d6e9de9bec47a2822a5c12b1f041aedcf	Mutations in the Ca(2+)-sensing receptor result in hypercalcemic or hypocalcemic disorders, such as familial hypocalciuric hypercalcemia, @DISEASE$, and autosomal dominant hypocalcemic @PHENOTYPICFEATURE$.	has_symptom
+33ffb008af166c58a0418472630d63d7a454c4f8	@DISEASE$ associated with hypoglycemia and @PHENOTYPICFEATURE$.	has_symptom
+548e3c7a46432bbe3567588264e2b2d67edb2f54	Several case reports have noted that patients with @DISEASE$ have been found to suffer from hypoglycemic episodes, which frequently present as a @PHENOTYPICFEATURE$.	has_symptom
+58889ec17d62b53fa7db9ad25db8f10ce7d20396	Vagal nerve stimulator placement for medically refractory @PHENOTYPICFEATURE$ in a child treated with phrenic nerve pacing for @DISEASE$.	has_symptom
+a6cc1add29d735ad0afee264294929580a05a647	Hypoglycaemia and hyperinsulinaemia might be suspected in children with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and hyperhydrosis; though, further studies are needed to confirm this association.	has_symptom
+31c9df6b381997ff44a91783bf9cf3d1b98b9f32	@PHENOTYPICFEATURE$ and hyperinsulinaemia might be suspected in children with @DISEASE$ presenting with seizures and hyperhydrosis; though, further studies are needed to confirm this association.	false
+9d7236c6ee7059baec0bb53419451898855a698f	@PHENOTYPICFEATURE$ and hyperinsulinaemia might be suspected in children with CCHS presenting with @DISEASE$ and hyperhydrosis; though, further studies are needed to confirm this association.	false
+d96b42ae053dd678aa8783755d0e2d2aa0c36454	A hypoglycaemic @PHENOTYPICFEATURE$ in a 4-year-old girl with CCHS led to a more detailed examination of glycaemic control in a cohort of children with @DISEASE$.	has_symptom
+82e1fb6758d8f7ee7a0565b331e69eb0fef3d1c1	A hypoglycaemic @PHENOTYPICFEATURE$ in a 4-year-old girl with @DISEASE$ led to a more detailed examination of glycaemic control in a cohort of children with CCHS.	has_symptom
+68fa87ce882adf85071650b71c436a2344749eb6	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of @DISEASE$ and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or @PHENOTYPICFEATURE$.	has_symptom
+672b665d7c6d55ac52b0733961a26d4d8e9e076a	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of @DISEASE$ and hearing loss, but without the main feature cleft lip/palate, and without @PHENOTYPICFEATURE$, or short stature.	false
+6470f56e9a9b91762114e85acfcfb710b0f7b4a5	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without @PHENOTYPICFEATURE$, or @DISEASE$.	false
+bcf937e2f88310fbadaaf01cdac2033d0588fcee	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and @DISEASE$, but without the main feature cleft lip/palate, and without @PHENOTYPICFEATURE$, or short stature.	false
+ba0c6be38456c6c1f631c566b8c0341a413586fb	By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature @DISEASE$, and without @PHENOTYPICFEATURE$, or short stature.	false
+314cfcecb7870bca44646b6c209c7ee7dc171a5e	Because these families were mapped to the same locus as @DISEASE$ (LO) and presented clinical and radiological overlap with individuals with hypomyelination, @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	has_symptom
+8c70685fe3ad538ab35bed593260edc31bd98e83	Because these families were mapped to the same locus as @DISEASE$ (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and @PHENOTYPICFEATURE$ (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	false
+ede6b855e9e60b225111215589cf0039bce1f857	Because these families were mapped to the same locus as leukodystrophy with oligodontia (LO) and presented clinical and radiological overlap with individuals with hypomyelination, @DISEASE$ and @PHENOTYPICFEATURE$ (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	false
+7dd8375d9398fe1231ca9f444fe041cc32240bbc	@DISEASE$ (PKU) is a common disease in congenital disorder of amino acid metabolism, which can lead to intellectual disability, @PHENOTYPICFEATURE$, behavioral problems, and mental disorders.	has_symptom
+0ef8f077e2e072fd61c30a0afcfc75bbcbedcf69	Phenylketonuria (@DISEASE$) is a common disease in congenital disorder of amino acid metabolism, which can lead to intellectual disability, @PHENOTYPICFEATURE$, behavioral problems, and mental disorders.	has_symptom
+437b7640f698992530fc86c5b02943762420c2de	@DISEASE$ (PKU) is a common disease in congenital disorder of amino acid metabolism, which can lead to @PHENOTYPICFEATURE$, seizures, behavioral problems, and mental disorders.	false
+77c275954ea363aed9e68c2e81077e1fe8244884	Phenylketonuria (PKU) is a common disease in congenital @DISEASE$, which can lead to @PHENOTYPICFEATURE$, seizures, behavioral problems, and mental disorders.	false
+b2e8c30af383fa2d4212d7ae4f17e65c32505b28	Phenylketonuria (PKU) is a common disease in congenital disorder of amino acid metabolism, which can lead to @PHENOTYPICFEATURE$, @DISEASE$, behavioral problems, and mental disorders.	false
+d49585a80591f948c53ecda40baa8e04cd34dc2d	Phenylketonuria (@DISEASE$) is a common disease in congenital disorder of amino acid metabolism, which can lead to @PHENOTYPICFEATURE$, seizures, behavioral problems, and mental disorders.	false
+87b7d6490b578c057b01de695f8eda8559b621ca	A 28-year-old man with @DISEASE$ had increased @PHENOTYPICFEATURE$ frequency and rapidly progressive spasticity.	has_symptom
+615f6e11291cfb671b660912d39ffeaaa986846d	Untreated @DISEASE$ causes severe mental retardation, musty odor, hyperactivity, @PHENOTYPICFEATURE$, eczema and hypopigmentation.	has_symptom
+7c67f73cd7fb4112e26b12eb5e5222d8c4b3abed	Untreated PKU causes severe mental retardation, musty odor, hyperactivity, seizures, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+28fce3fa22edb4727e498985aa5e227185293278	Untreated @DISEASE$ causes severe mental retardation, musty odor, hyperactivity, seizures, eczema and @PHENOTYPICFEATURE$.	false
+fe195722c930c4cfdc4e66f11df193bc201bae38	Untreated PKU causes severe mental retardation, musty odor, hyperactivity, @DISEASE$, eczema and @PHENOTYPICFEATURE$.	false
+e685f5f9bc22e5f76d3a6e9dd6c01eeb571e4a08	Untreated PKU causes @PHENOTYPICFEATURE$, musty odor, hyperactivity, seizures, @DISEASE$ and hypopigmentation.	false
+717a14ca4d0d4af06ad7b658aa97b0fc8cd5a032	Untreated PKU causes @PHENOTYPICFEATURE$, musty odor, hyperactivity, @DISEASE$, eczema and hypopigmentation.	false
+46cd7799917d9dcf62c4b63fb3f2441fc7596531	Untreated @DISEASE$ causes @PHENOTYPICFEATURE$, musty odor, hyperactivity, seizures, eczema and hypopigmentation.	false
+480b5c160502c6944cca851b405222a3303af68c	Up to 50% of @DISEASE$ patients experience @PHENOTYPICFEATURE$.	has_symptom
+cfa5d65aca7ac79d4e10cb9518dd7ba21caddd89	Untreated @DISEASE$ can lead to mental retardation, @PHENOTYPICFEATURE$, and other serious medical problems.	has_symptom
+011c350e16c677f245be9cf3239d7b111574cb36	Untreated @DISEASE$ can lead to @PHENOTYPICFEATURE$, seizures, and other serious medical problems.	false
+89e98f483f64c88872d94143240b77cf78654f5b	Untreated PKU can lead to @PHENOTYPICFEATURE$, @DISEASE$, and other serious medical problems.	false
+4f1431490dd0c84cf2429a567ae3f54cba362d7f	Clinical features of @DISEASE$ patients include mental retardation, microcephaly, and @PHENOTYPICFEATURE$.	has_symptom
+602283d6fe53d7a529252ebd57f96a834587f05c	Clinical features of PKU patients include mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a55dab86b39a654a5bb603115100119e8bd261db	Clinical features of @DISEASE$ patients include mental retardation, @PHENOTYPICFEATURE$, and seizures.	false
+eada30501ba6564d1cbc6554ab54491583a5429d	Clinical features of PKU patients include @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+e8bdf0c48f2ef20c967483566caccf0ac9a51b18	Clinical features of @DISEASE$ patients include @PHENOTYPICFEATURE$, microcephaly, and seizures.	false
+d9d59dd19b94affbfd10134dda307b9679577e2b	One patient with @DISEASE$ and minor seizures was improved.It is concluded that this approach to anticonvulsant therapy is worth pursuing and that the drug may also find some use in the treatment of phenylketonuria and of @PHENOTYPICFEATURE$ due to vitamin B(6) dependency.	has_symptom
+f4790ac0373bf0472bef5d3a76fdf0ae9b23ffd6	One patient with @DISEASE$ and minor @PHENOTYPICFEATURE$ was improved.It is concluded that this approach to anticonvulsant therapy is worth pursuing and that the drug may also find some use in the treatment of phenylketonuria and of seizures due to vitamin B(6) dependency.	has_symptom
+7404a85237ec927af120b3484720576ef809e0ef	One patient with phenylketonuria and minor @PHENOTYPICFEATURE$ was improved.It is concluded that this approach to anticonvulsant therapy is worth pursuing and that the drug may also find some use in the treatment of @DISEASE$ and of seizures due to vitamin B(6) dependency.	has_symptom
+94333beb9359e2814520516f309e4869fe7d1c94	One patient with phenylketonuria and minor seizures was improved.It is concluded that this approach to anticonvulsant therapy is worth pursuing and that the drug may also find some use in the treatment of @DISEASE$ and of @PHENOTYPICFEATURE$ due to vitamin B(6) dependency.	has_symptom
+d5653bf98efea0e8bde0ccbc660abab98ac3286c	Little is known about @PHENOTYPICFEATURE$ and their treatment in adult @DISEASE$ patients, and information with newer antiepileptic drugs is lacking.	has_symptom
+7f287b5bb16864ef4dc6d0bbec30ef69c8d87455	In a group of 90 children with @DISEASE$ diagnosed and treated late the authors studied the problem of @PHENOTYPICFEATURE$.	has_symptom
+9ecc390dca16ce3331b1b9ebf594d66f03271486	Transient decrease in Phe levels within hyperphenylalaninemic range may be a necessary condition for @DISEASE$-related @PHENOTYPICFEATURE$ to occur.	has_symptom
+5918c19d790d76458cd3ff5be90245c4eade2d79	The patient demonstrated @DISEASE$, @PHENOTYPICFEATURE$, and microcephaly.	has_symptom
+4f3e8a0223ed58bf21929931e261b81159e207e5	The patient demonstrated spastic quadriplegia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2124e6f2d47eb24c685dcacde88380b8cfb9497b	The patient demonstrated @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+e4955385cf7a04eb81921aecb1550d8ff4c4f7dd	Uncommon gross clinical sequelae of prolonged immersion in fresh water included @DISEASE$ and gross @PHENOTYPICFEATURE$.	has_symptom
+8e4d435dfea0f1ad93cfe197f0c8f1a0ef7013b7	We experienced a 6-year-old girl with @DISEASE$, intractable epilepsy, and @PHENOTYPICFEATURE$, all initially regarded as sequelae of neonatal meningitis.	has_symptom
+24eb5c1419ad1bfa2077e8aa14d1a9cca0cbf52e	All had @PHENOTYPICFEATURE$ and 18 had epilepsy and @DISEASE$ or hemiparesis.	has_symptom
+78e158a9f4facc99fdf81bb265cc99556eb5d00d	Our patient, a 2-year-old boy, presented with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+045849ba2c0ebeba932e511841728efd76e4b893	Thereafter, she became severely handicapped with @DISEASE$, @PHENOTYPICFEATURE$ and intractable epilepsy.	has_symptom
+a89fe9fb91697283e7cbf6bd3e7ab2b81c32bb16	Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+4e8611bad658002379167a56b50df3c7eaa867b8	Progressive cerebellocerebral atrophy: a new syndrome with @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+737585979bc02327308e7932066cff82de6b4988	Progressive cerebellocerebral atrophy: a new syndrome with @PHENOTYPICFEATURE$, @DISEASE$, and spastic quadriplegia.	false
+b251c511129b22ee266a0182730558eddc2d567b	Recessive mutations in ELOVL4 cause ichthyosis, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+331a3f0b13cdddde9a0048a69b4b6e26b126ea18	Among the 13 infants who were alive at the time of this survey, 6 had neurological sequelae, including @PHENOTYPICFEATURE$, @DISEASE$ and epilepsy.	has_symptom
+30baefc61fa1a23fafccdae863ab32f75fe71f3b	The majority of children had severe @DISEASE$, @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+f6bed9f05473d99ce70998a0dc380a9f677bfce3	Also present in these patients and not previously reported is the association of @DISEASE$ with paraspinal @PHENOTYPICFEATURE$ which produce a characteristic scoliosis described as a 'side-sliding' spine.	has_symptom
+821ec999f6ac7e7d96fbf908d8ed33b678e5236d	@DISEASE$: respiratory failure and paraspinal muscle @PHENOTYPICFEATURE$ are important complications.	has_symptom
+6f9b7c212028f77a075c023b1d8d720342b3a5da	@DISEASE$ is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, severe short stature, and early @PHENOTYPICFEATURE$.	has_symptom
+68c28a77fd429a4cb2896a06cd18d8a0e6cb92db	@DISEASE$ is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, @PHENOTYPICFEATURE$, and early hypoglycemia.	false
+4c4fa0e5d9562c54e6adc41ca06f41820cade570	Laron syndrome is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, @PHENOTYPICFEATURE$, and early @DISEASE$.	false
+aa8b2b1cbbb07552f8acb1ac0d769275f11ae50c	We describe a 2-year old girl with @DISEASE$, who presented with postnatal growth failure and @PHENOTYPICFEATURE$ seizures.	has_symptom
+182e28c6452b8d296572968cd1c890cf3d420fec	We describe a 2-year old girl with @DISEASE$, who presented with postnatal growth failure and hypoglycaemic @PHENOTYPICFEATURE$.	false
+749344210d18a44a4d84cb79072e7ec0cf840f65	We describe a 2-year old girl with Laron syndrome, who presented with postnatal growth failure and @DISEASE$ @PHENOTYPICFEATURE$.	false
+88aae127c986ad5eb56fffe489f47edf1b3dad2c	A 4-year-old, 90-cm, 12-kg girl with @DISEASE$, @PHENOTYPICFEATURE$ (MR), and Hischsprung's disease (HD) was treated under general anesthesia.	has_symptom
+0210e97d50f8a48fa11f7cab025976abf4973d2c	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	has_symptom
+0ed2c87300feb57691d9e603301deeeaf69a8d88	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and spastic quadriplegia.	false
+ca7a4fc99232b12572e27e20d6685e43b26e205f	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+8878d6cd8574bc4a9d559d203e6de48e7bb918d6	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+4b076ea1bd9c2fec6d2b342f07a1706d8f57323b	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+2300556389302ae16e0b5583148ef7fb0709c889	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5bb8e0dc12650adc86ecb5b0e28b4bfe6312eb2e	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and @DISEASE$.	false
+7bd662e2941853c405aef238a451e7d831f122ad	Two siblings with @DISEASE$ (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+30504979c99d2737963b651796aa964117821474	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, peripheral neuropathy, and spastic quadriplegia.	false
+1d0a976615e0bad3196baada6dac00611f0f9773	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+dc621bc7a291330660dcb76179b6deff4b11ea27	To describe @PHENOTYPICFEATURE$ in classic and early onset @DISEASE$ (CS).	has_symptom
+a8fe1938932fd06f4d49b62776f418ee80190777	@DISEASE$ (CS) is also characterized by signs of premature aging, including the loss of subcutaneous fat, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+127c5bd253853ad7963ea99ce6278c429b3a2e03	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	has_symptom
+588d3e4caa432635d6405498cd070727763fbde0	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+73f0fd91894f0955d5ffb4c05dfd9cee703c76e5	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+c8b441b90eb5433b5e6ff482e190739918eea7f9	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, @DISEASE$, and sensorineural hearing loss.	false
+e78a85457e0ee9216760e82e66574cce55685c80	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, cataract, and sensorineural hearing loss.	false
+4acbdb46ed4cdf1b6c904854a1d264ffd28222ac	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; @DISEASE$ retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+fa196d6b404ffc281913dfa0e917b76e2f2771db	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; @DISEASE$ retinopathy, cataract, and sensorineural hearing loss.	false
+7094fe9c5552b753cbd6d00551b6bf6cb4a42fc0	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary @DISEASE$, cataract, and sensorineural hearing loss.	false
+23cde0d9775b741623231ff12e75aee883686d00	Cockayne syndrome is a rare autosomal recessive @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$; pigmentary retinopathy, cataract, and sensorineural hearing loss.	false
+4a81eb60d5c8ddbf1d12e13a1ada3646d0def6be	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary @DISEASE$, cataract, and @PHENOTYPICFEATURE$.	false
+828b6ae1d96816b662771d77822b2233bd86282c	Cockayne syndrome is a rare autosomal recessive @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and @PHENOTYPICFEATURE$.	false
+6063ee44f1a757367461fa00cc2b4a04bcfe191f	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or @DISEASE$ (cachectic dwarfism, @PHENOTYPICFEATURE$, pigmentary retinopathy and spasticity) were absent.	has_symptom
+466b00031d33e05f9e352c1e56901792b0b729b2	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary @DISEASE$ and @PHENOTYPICFEATURE$) were absent.	false
+00df9f5ae65dbac4f5de9597f3c355b8d3a8d49d	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or @DISEASE$ (cachectic dwarfism, cataracts, pigmentary retinopathy and @PHENOTYPICFEATURE$) were absent.	false
+2321513a7b3658bc7436c4b91abb13dd3ce27270	Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, @DISEASE$, pigmentary retinopathy and @PHENOTYPICFEATURE$) were absent.	false
+df9e53e75834f86d00e7aead4990d4401a4ab494	A 4-year-old female with @DISEASE$ presented for @PHENOTYPICFEATURE$ extraction under general anesthesia.	has_symptom
+cf20931117f6482eacb2c20146638638888fe65b	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, @PHENOTYPICFEATURE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	has_symptom
+aa2494e00f39febbbe0462ee4f956a529f1dea27	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary retinopathy, @DISEASE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+636ea5913e361fb12596897acdfabe3573cd83e9	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, @DISEASE$ retinopathy, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+6922c9da762522efcf00606359ba66f871ada15f	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+c70175d578ffdfa86a30f74b3a25197fcab65e11	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, @DISEASE$, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+ce2f973d496fc865d7ca559833b38dc0ccba80eb	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+b7bb7579425f528a9829df1744705fa71c80e1ff	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, pigmentary @DISEASE$, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+3e8d4e5f07b07bc0aef7ae1452d23d1386f50c5e	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary retinopathy, @DISEASE$, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+667b5c6da4b01e25f3285033cf2c036c42e91d6f	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary @DISEASE$, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+f9a9eecbc8e09274a8bd2b1753be9c3905e8ec84	@DISEASE$ (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+6d1091d7e89139df9139e673b2f801fa4363e2df	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including @PHENOTYPICFEATURE$ and cognitive deficits, @DISEASE$ retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+7b4fac8aa354698c59897f4ecd20f22e7d81252d	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and @PHENOTYPICFEATURE$, @DISEASE$ retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+e0e1a7392bc03cda8a3dd0e7b9db3cc8a00d07cc	Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary @DISEASE$, cataracts, @PHENOTYPICFEATURE$, and ambulatory and feeding difficulties, leading to death by 12 years of age on average.	false
+b00ae9c37ce913fa5c018a4c8fe33d71bbdc1bcf	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, @PHENOTYPICFEATURE$, or both; and sensorineural hearing loss.	has_symptom
+39a5dea95b0d838dc3d49edee999788d5e86ed78	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary @DISEASE$, cataracts, or both; and @PHENOTYPICFEATURE$.	false
+e459a379495ce4a213af62f2bd73b41485e74bf3	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; @DISEASE$ retinopathy, cataracts, or both; and @PHENOTYPICFEATURE$.	false
+8a824160883fc7a36969ee27597993959fa3ef74	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, @DISEASE$, or both; and @PHENOTYPICFEATURE$.	false
+c55ef8e5256c27dd65c8e6b4e27ac8422acb6230	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and @PHENOTYPICFEATURE$.	false
+aede0e148fd5bf410e8ae1573e97e7493ea26259	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and @PHENOTYPICFEATURE$.	false
+0f5523d9a91eeaa1fdf79147ab01d1457f32dc31	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	has_symptom
+c85343ebad03ade69e9127b7179cc0fb8b7d735d	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+c90b01aaf8e0cb5eb75cd9034b0cf3f8ff94930b	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, @DISEASE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+dbe2143d2bc9805d07bac4088546d9bbf2ea0f5b	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+7fe53f1a3bee4d1a7a7fe1090e36eb61529af53a	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce39e0ad682d339253435e8222161018c5b7c39d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+13dc10e1873eb7e153b31071d32c818c96cc11a2	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @DISEASE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+500ff6126cd74bd5b9951f1fb877f76cfd360f15	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e577047cfc349c0d037680387ea922ca2bc9559d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2c971b949d0fa6132b3ab3fd14483bba1e624182	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+2ecf8b4c99fe1f2e5ff81d8a2abba5f79261fcab	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+42415993a14e8e679004594d6975b5be6401e637	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+d0e254a92b3c5146f536e87caf3b7d1a7369d6f1	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0113f5a1dc4887245f2d966cf2e28efa78096d81	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+f68e13015fd03a5d1b689bc9b00fc6bb1bee18c0	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce3db0aeb99a63fe5b67f738ff7a2e666685718f	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+5ef214edc124ef6ed97ff1154f87c433477d5780	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @DISEASE$, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+1574f29ca6c4a37f81eb671bc1ffaefaa2d1d469	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, @DISEASE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+1d2636a215fee336acfdb1ffc095a31a0f41c09c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+43bd9f61f1203850f530db9486bc4df7d67ebe29	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+e705e023d42cfbee9431a28f7260a0013159327d	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+605eda68e75e074ed183d334321e6a5d58bbcb3e	Cockayne syndrome is an @DISEASE$, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e4039a657fde1aca44cadf380d4b9ed8ca3dbdab	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+80871c69dd096fdf3e343c46255285a305217889	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, @DISEASE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+01edc24b8136c8ce929993dac5a8e31eedf1aff7	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @DISEASE$, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+dc202672d589dd85c14c63ae0f6b0c4d2c4355bf	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @PHENOTYPICFEATURE$, and sensorineural hearing loss.	has_symptom
+c5b28c4356099e47690b691ef656ac5b80568653	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.	false
+c526bd20cf649d6e32d420caedbe0042861dc145	Cockayne syndrome (CS) is a recessively @DISEASE$ characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and @PHENOTYPICFEATURE$.	false
+6640c4ed8cd241f1b12425cd6f64652c07c6257e	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.	false
+0e249c8024e5848e0765ee5ff8f5ab0317156cd5	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or @DISEASE$, and @PHENOTYPICFEATURE$.	false
+62786319fb21cf540bf15190fe8ff1656178a8af	@DISEASE$ (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and @PHENOTYPICFEATURE$.	false
+d64b8047b94786cd7333d6425631eb0eda204705	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary retinopathy and/or @DISEASE$, and sensorineural hearing loss.	false
+c46aa4c11e55328c6982e82ca5a221d77b8e901b	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary @DISEASE$ and/or cataracts, and @PHENOTYPICFEATURE$.	false
+abdc7894815ac8abb6eb530f16d9c28e4e2bd3f8	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, @PHENOTYPICFEATURE$, pigmentary @DISEASE$ and/or cataracts, and sensorineural hearing loss.	false
+b929ff6602efc66fa400961be8c79209637473b2	@DISEASE$ is an autosomal dominant disorder characterized by a number of clinical features including short stature, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, @PHENOTYPICFEATURE$, and cone-shaped epiphyses of the phalanges.	has_symptom
+9f3ff8623692c5ab6dec65aa91631c60bae6cfcd	@DISEASE$ is an autosomal dominant disorder characterized by a number of clinical features including @PHENOTYPICFEATURE$, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges.	false
+13a72bcbe32a18c0c2b627204183e44343650fe8	Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including @PHENOTYPICFEATURE$, sparse scalp hair, a pear-shaped bulbous nose, @DISEASE$ lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges.	false
+28fa70128644df3844bb7d73d96280ea505eb5e5	Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including @PHENOTYPICFEATURE$, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, @DISEASE$, and cone-shaped epiphyses of the phalanges.	false
+1f3301c37fe15e59146e73db4315a06cac14ab65	The @DISEASE$ (PKD2) gene, encoding a 968-amino acid integral membrane protein with six predicted membrane-spanning domains and intracellular NH2 and COOH termini, is mutated in approximately 15% of the cases of autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease frequently resulting in @PHENOTYPICFEATURE$.	has_symptom
+a0a106ec9efe4877e1e61e2d26892b21d31ed2b5	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy (@DISEASE$).	has_symptom
+25ba4ac612b1721e941d04775796b92ce0bf5d60	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+d6f62d1ebb82145afe689218b3367f734872f3e4	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy @DISEASE$ with edema, hypsarrhythmia and @PHENOTYPICFEATURE$ (PEHO syndrome).	false
+df69bec34b3d1560053e0d7a0c99480186787146	Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with @DISEASE$, hypsarrhythmia and @PHENOTYPICFEATURE$ (PEHO syndrome).	false
+fba99af78f4f59c3bd6b530fcd8b837c3923e576	Neuropathology of the progressive encephalopathy syndrome with @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy (the @DISEASE$).	has_symptom
+1d7c78cbd72de61998cfc32d702f8d79c0888447	Neuropathology of the progressive encephalopathy @DISEASE$ with edema, hypsarrhythmia and @PHENOTYPICFEATURE$ (the PEHO syndrome).	false
+789f64cdd6be902ae7605c2887aff634cc0339fa	Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and @PHENOTYPICFEATURE$ (the @DISEASE$).	false
+86ef7c885e5a0b80bb92435494cc940d4aea825f	Neuropathology of the progressive encephalopathy syndrome with @DISEASE$, hypsarrhythmia and @PHENOTYPICFEATURE$ (the PEHO syndrome).	false
+ba87958324b6c92150c5539183567fdaa750d46b	@DISEASE$ is a rare symptom complex of severe progressive encephalopathy, @PHENOTYPICFEATURE$, hypsarrhythmia, and optic atrophy.	has_symptom
+c52b2c9a525695f419fc9d9cb05d8a114f8368a7	PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, @DISEASE$, hypsarrhythmia, and @PHENOTYPICFEATURE$.	false
+9a7ab513009d4eb8d70b39c61b1a0a22b40e26c2	@DISEASE$ is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and @PHENOTYPICFEATURE$.	false
+7358bdc8366d4bbf43df17f7bd667ca2254794fb	[@DISEASE$ (progressive encephalopathy, @PHENOTYPICFEATURE$, hypsarrhythmia.	has_symptom
+628fac1d49aa8c267a98f60e76b30822069976ef	@DISEASE$: An autosomal dominant @PHENOTYPICFEATURE$ with flexion contractures, keloids, and follicular hyperkeratosis.	has_symptom
+e330acf40ffc69c5b316e1ab7e005aeaa1934175	@DISEASE$: An autosomal dominant myopathy with @PHENOTYPICFEATURE$, keloids, and follicular hyperkeratosis.	false
+1f067340f1160e49a071c0c31cf4dd331712be51	Bethlem myopathy: An autosomal dominant @DISEASE$ with @PHENOTYPICFEATURE$, keloids, and follicular hyperkeratosis.	false
+830028e23f7879782acba0bcbe578666da532172	Type VI collagen mutations in @DISEASE$, an autosomal dominant @PHENOTYPICFEATURE$ with contractures.	has_symptom
+c5d599ec9f96d9b307c492019dfc6dfc3440803c	The main clinical features of this spectrum are Corpus callosum hypoplasia, @PHENOTYPICFEATURE$, Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the acronym @DISEASE$.	has_symptom
+5a4e4f0e46ced381a1096e93bf7782618bbb27ce	As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, @PHENOTYPICFEATURE$, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the @DISEASE$.	has_symptom
+d3c16b4200f691844d3bb3c8e08a3a14ee91610b	L1 at Xq28 is the target for mutation in a complex @PHENOTYPICFEATURE$ disorder termed the @DISEASE$ (also sometimes referred to as CRASH syndrome).	has_symptom
+5697a8334c13f026e9fe6af7e97bcb2c0915a905	L1 at Xq28 is the target for mutation in a complex @PHENOTYPICFEATURE$ disorder termed the L1 syndrome (also sometimes referred to as @DISEASE$).	has_symptom
+b75a9935a2ec0f571493ebe1021159f909e26e93	The main clinical features of this spectrum are Corpus callosum hypoplasia, @PHENOTYPICFEATURE$, Adducted thumbs, Spastic paraplegia and Hydrocephalus (@DISEASE$).	has_symptom
+828fafb520ce413b77f12889ae4a866546b5bbef	Mutations in the human gene result in a broad spectrum of phenotypes (the @DISEASE$) that include devastating neurological disorders such as spasticity and @PHENOTYPICFEATURE$.	has_symptom
+4b3882bba72d17229ecf91ce342ca4fae539a800	Mutations in the human gene result in a broad spectrum of phenotypes (the CRASH-syndrome) that include devastating neurological disorders such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+432775092fadfd5d6fa03692b456a7ab5dcdc940	Mutations in the human gene result in a broad spectrum of phenotypes (the @DISEASE$) that include devastating neurological disorders such as @PHENOTYPICFEATURE$ and mental retardation.	false
+05351fa000b7c280699c9f2528ed4d7ba52e63e7	Mutations in the human gene result in a broad spectrum of phenotypes (the CRASH-syndrome) that include devastating @DISEASE$ such as @PHENOTYPICFEATURE$ and mental retardation.	false
+b4df9908280381ba9238f775a3d3c07ec3247716	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for @DISEASE$, a very rare inherited disorder characterized by corpus callosum hypoplasia, @PHENOTYPICFEATURE$, adducted thumbs, spastic paraplegia, and hydrocephalus.	has_symptom
+3f7667df7e9d20606f768fe64748f78e03ad7db7	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for @DISEASE$, a very rare inherited disorder characterized by corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, and @PHENOTYPICFEATURE$.	false
+8edbdf765755e75b3400a76815632b294f1f6563	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very @DISEASE$ inherited disorder characterized by corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, and @PHENOTYPICFEATURE$.	false
+fe1cde2dd645e8ee82ba0b803d865a84e9351874	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very rare inherited disorder characterized by corpus callosum hypoplasia, @DISEASE$, adducted thumbs, spastic paraplegia, and @PHENOTYPICFEATURE$.	false
+16899961507c7da62b43831e3a1aded094486c06	L1 plays essential roles in normal development of the nervous system, and the mutations in the L1 gene are responsible for CRASH syndrome, a very rare inherited disorder characterized by corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f1277c1f3bf4be9b7f26347bef54ce745049cfff	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, @PHENOTYPICFEATURE$, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	has_symptom
+ea018a8cbdc34f7244d1e6e5cc16dd73d4a0af00	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @PHENOTYPICFEATURE$, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+d788677bcee424d14f5d291d8ccce7d172d398ac	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication @DISEASE$ characterized by infantile hypotonia, @PHENOTYPICFEATURE$, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+2c2e00fc845f5e71d0e448809403e6887b1fa8e8	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @PHENOTYPICFEATURE$, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include @DISEASE$.	false
+2f5ffe8fad51d9465bf7ddc4ba2fa080985e7875	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+4fbe20c65b118a9809b8553083ff88fc808a2f7d	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, @DISEASE$, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+1d60360fa830bfbaf39b61702c7efc24cf55383b	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication @DISEASE$ characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+c01d94a20fdd87b53653e6bd93161f7e86e267d8	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include @DISEASE$.	false
+3e962b84cc6505e6e6af2d9b51eb350f920e91a2	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+53b6a92854dacbc08ed59e0049896f2b5e3e8ff3	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+53cc98725eaa663b3278dee9f8d9b2b9c0b9f047	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication @DISEASE$ characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+36aa38902bb2392830e1864d69a019f06eafee45	Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include @DISEASE$.	false
+05df4eb3aa2ba858c8796f82435267555606e24a	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+8b76c0303dd3f4d8496c2a4c2286cca33dc489e9	@PHENOTYPICFEATURE$ simulating @DISEASE$ with particular reference to the heterogeneity of Kugelberg-Welander disease.	has_symptom
+b2c355c0ae1b76ab0cd319bc48606f5f7bdb4685	Moreover, AChE activity was found to be high in the sarcoplasm of more than 10% of the fibers from 28 biopsies of abnormal muscle including cases of hemiplegia, spinal cord injury, denervation and neuropathy, infantile spinal @PHENOTYPICFEATURE$, Duchenne, limb-girdle and @DISEASE$, Schwartz-Jampel syndrome and a myasthenic syndrome.	has_symptom
+a52bd00e4db748357a5b43eca980e42904f53e30	DUX4 is a transcription factor that may target several genes which results in a deregulation cascade which inhibits myogenesis, sensitises cells to oxidative stress and induces @PHENOTYPICFEATURE$, thus recapitulating many of the key molecular features of @DISEASE$.	has_symptom
+ef88d66c9cfd40ed0178a1fc203a41849a981689	Double homeobox 4 (DUX4) is a candidate disease gene for facioscapulohumeral dystrophy (@DISEASE$), one of the most common muscular dystrophies characterized by progressive skeletal @PHENOTYPICFEATURE$.	has_symptom
+c2b41375f9d15578515ff20299f4a21e632ac019	Double homeobox 4 (DUX4) is a candidate disease gene for @DISEASE$ (FSHD), one of the most common muscular dystrophies characterized by progressive skeletal @PHENOTYPICFEATURE$.	has_symptom
+1f7b8b028278128a5c2254c43d9f1178a111601a	This review discusses current management strategies in @DISEASE$ as well as potential therapeutic interventions to slow down or reverse the progressive @PHENOTYPICFEATURE$ and weakness.	has_symptom
+c036d6b874adfc3aaf8b3f2c663ef35135c26b5b	The DUX4 protein initiates a large transcription deregulation cascade leading to @PHENOTYPICFEATURE$ and oxidative stress, which are @DISEASE$ key features.	has_symptom
+7debedf2c7aff098015eb11e22d4dc4ece413a73	To test the hypothesis that up-regulation of PITX1 contributes to the @PHENOTYPICFEATURE$ seen in patients with @DISEASE$, we generated a tet-repressible muscle-specific Pitx1 transgenic mouse model in which expression of PITX1 in skeletal muscle can be controlled by oral administration of doxycycline.	has_symptom
+a1b7b83a22145ee2ff3d5b0983213a32f58132ca	The DUX4 protein is a 52-kDa transcription factor that initiates a large gene deregulation cascade leading to @PHENOTYPICFEATURE$, inflammation, differentiation defects, and oxidative stress, which are the key features of @DISEASE$.	has_symptom
+53500edbba40168a63a0afebd8855af7996e3950	In the patients with limb-girdle muscular dystrophy, @DISEASE$ and @PHENOTYPICFEATURE$, the plasma ANP concentration showed a tendency to elevate.	has_symptom
+dbb1b5d66360fe71ebbb98fc7ad1ab5d06456a86	It encodes a transcription factor expressed in @DISEASE$ but not healthy muscle cells which initiates a gene deregulation cascade causing differentiation defects, @PHENOTYPICFEATURE$ and oxidative stress.	has_symptom
+6b4c214f0f95b1665eb07b5d4dee737162df65e7	@DISEASE$ is a recently described inborn error of metabolism characterized by episodes of @PHENOTYPICFEATURE$ and hypoketotic hypoglycaemia in response to prolonged fasting.	has_symptom
+9948fdc391110c9d2405187db7ce17b27646ec1a	@DISEASE$ is a recently described inborn error of metabolism characterized by episodes of coma and hypoketotic @PHENOTYPICFEATURE$ in response to prolonged fasting.	false
+ccbc3c8955fce7d39d52d75e63d7431dea06abc8	Medium-chain acyl-CoA dehydrogenase deficiency is a recently described @DISEASE$ characterized by episodes of coma and hypoketotic @PHENOTYPICFEATURE$ in response to prolonged fasting.	false
+07d04be6ba0a5073eb0071abcb85156dc645555f	Medium-chain acyl-CoA dehydrogenase deficiency is a recently described inborn error of metabolism characterized by episodes of @DISEASE$ and hypoketotic @PHENOTYPICFEATURE$ in response to prolonged fasting.	false
+66014e70180ac4b0dfc59e7a39b1741650d49fef	The authors found muscle @DISEASE$ (26 to 35% of normal) in six patients with cerebellar ataxia, pyramidal signs, and @PHENOTYPICFEATURE$.	has_symptom
+425e8dd129b6c65c64d9c95738445942e1fc6682	The authors found muscle @DISEASE$ (26 to 35% of normal) in six patients with @PHENOTYPICFEATURE$, pyramidal signs, and seizures.	false
+9cee4026adda7f6a7ed5f34c8f79bfa5180ba9a6	The authors found muscle CoQ10 deficiency (26 to 35% of normal) in six patients with @PHENOTYPICFEATURE$, pyramidal signs, and @DISEASE$.	false
+a0bc0fc84bf4ebf5802c228531d5a59dfcb7473d	The homozygous mutation caused @DISEASE$-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, @PHENOTYPICFEATURE$, failure to thrive, and detectable lesions in the midbrain and basal ganglia.	has_symptom
+6634490694533021e119b5c6112140a2c20955d0	The homozygous mutation caused CoQ10 deficiency-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, @DISEASE$, @PHENOTYPICFEATURE$, and detectable lesions in the midbrain and basal ganglia.	false
+b57a22dc30110e4e3f218245b500ed7295cf674b	The homozygous mutation caused @DISEASE$-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, seizures, @PHENOTYPICFEATURE$, and detectable lesions in the midbrain and basal ganglia.	false
+7120674aea73d43f105942083acf9a901dfd673a	The homozygous mutation caused CoQ10 deficiency-associated @DISEASE$ with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, seizures, @PHENOTYPICFEATURE$, and detectable lesions in the midbrain and basal ganglia.	false
+ce8b653ecc026cccdab8fc1fabb4dbfa3752429b	The homozygous mutation caused CoQ10 deficiency-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, @DISEASE$, seizures, @PHENOTYPICFEATURE$, and detectable lesions in the midbrain and basal ganglia.	false
+a7ddeccf3f776120e311a3e1901dd7ec87a90ccf	Muscle @DISEASE$ has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (@PHENOTYPICFEATURE$, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	has_symptom
+cb718a82e0c788dc521fb7b66f6358165b3118a7	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent @DISEASE$; 2) brain involvement (seizures, ataxia, @PHENOTYPICFEATURE$), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+93d0ef06017f6dcfa976f5cb8ae718b35d50d2bc	Muscle @DISEASE$ has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, ataxia, @PHENOTYPICFEATURE$), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+9d0274dc16e44a561cb13c25371f70ceca36fdf9	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (@DISEASE$, ataxia, @PHENOTYPICFEATURE$), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+ccb6720e13046b87a54f172356dc47fb61bbd02a	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent @DISEASE$; 2) brain involvement (seizures, @PHENOTYPICFEATURE$, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+a53b472384f8fb9d269f46287282325e36433f0d	Muscle @DISEASE$ has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, @PHENOTYPICFEATURE$, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+2ed77e67c2607e02536fb70513edf920aa69abc7	Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (@DISEASE$, @PHENOTYPICFEATURE$, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy.	false
+f910a4d2880d72469b267225dd552b67e56afa89	A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+fbeb4f71140df33e67f3f23dfff51778190a1fce	A 6-year-old boy with features of the keratitis-ichthyosis-deafness (KID) syndrome and @PHENOTYPICFEATURE$ is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of @DISEASE$ with cerebellar hypoplasia.	has_symptom
+00d1e655e7610d2171130e325830b24029961ca7	A 6-year-old boy with features of the @DISEASE$-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia.	false
+58f2f64007acf447904fb1f5c78dc00bbdd4b2f4	A 6-year-old boy with features of the keratitis-@DISEASE$-@PHENOTYPICFEATURE$ (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia.	false
+eb9f157da5cedb17c04d81d2def79973be142f47	A 6-year-old boy with features of the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome and @DISEASE$ is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia.	false
+a11d65183fd6f070908b4e694f1e72f9b8ccd14a	A 6-year-old boy with features of the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with @DISEASE$.	false
+b964cfc3fa94d483ed7b38fbd02e414bb901685f	A 6-year-old boy with features of the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of @DISEASE$ with cerebellar hypoplasia.	false
+7bbd377702fa5ffaee7aca64b234ce57a15cf9e5	A 6-year-old boy with features of the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) @DISEASE$ and cerebellar hypoplasia is the second case in which abnormality of cerebellum was detected by computed tomography, but is the first report of KID syndrome with cerebellar hypoplasia.	false
+f292b4fa638720356da14f787128daa22d61ec5e	Late-onset @PHENOTYPICFEATURE$ with hypogonadism and muscle @DISEASE$.	has_symptom
+f4c5d39805e8e99ba7fa3f9dbb8bb4f9d1cb3759	Familial @PHENOTYPICFEATURE$ with muscle @DISEASE$.	has_symptom
+ab6162c5441e9e24dfc9bf0f94f013535f9b4229	ADCK3, an ancestral kinase, is mutated in a form of recessive @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+2537337f7dcc5554fac986231171d0610f6f4074	@PHENOTYPICFEATURE$ with @DISEASE$: diagnosis and follow-up after coenzyme Q10 supplementation.	has_symptom
+68f64b78b8f976a415e2084bf7507eb0763fe71e	@DISEASE$ predominantly affects children, but patients have presented with adult-onset @PHENOTYPICFEATURE$ or myopathy.	has_symptom
+ad60d13554777fefffdce4a7d04509d55ee90083	Restoring balance to @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+99bad4d92cb851dc6e5bffe3a63b935aba406e60	Clinical, biochemical and molecular aspects of @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+984dce7f946dcc7fb5bbc91e0b6c3a6e5797ad53	Some observations upon biochemical causes of @PHENOTYPICFEATURE$ and a new disease entity ubiquinone, @DISEASE$.	has_symptom
+2650c39420b5e0a9909ee52d556da526b048bd6b	@DISEASE$ associated with @PHENOTYPICFEATURE$ may be responsive to Co Q10 or ubidecarenone supplementations.	has_symptom
+0644563bab9bf92b91baaff0c7079c3b48f686f6	@PHENOTYPICFEATURE$ and severe muscle @DISEASE$ in a patient with a novel mutation in ADCK3.	has_symptom
+14a4ce52173f37981ba1109db364db976d87419f	Mutations in the 11?-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (CAH), an @PHENOTYPICFEATURE$ disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without @DISEASE$.	has_symptom
+1ee153710b9a8369684581622ba323e52fe17616	Untreated phenylketonuria (@DISEASE$) leads to serious @PHENOTYPICFEATURE$.	has_symptom
+ff5c95034b5f12c567428f120bd3457a460900d4	Untreated @DISEASE$ (PKU) leads to serious @PHENOTYPICFEATURE$.	has_symptom
+12d5474bdd5dd3828b4c9497dd8a7603cd69b0bb	@DISEASE$ among the @PHENOTYPICFEATURE$ in India.	has_symptom
+f865dee807dc69189a166f31998defd7e640d75a	[Results in the fight against @PHENOTYPICFEATURE$--@DISEASE$].	has_symptom
+174cace747c19cc6b1ee83aad154ec0cdca6fe95	[@DISEASE$, an avoidable @PHENOTYPICFEATURE$].	has_symptom
+834d642cd74826c8589ad980b3380ffbc387010d	The main feature of @DISEASE$(PKU) is @PHENOTYPICFEATURE$.	has_symptom
+50d1eda552f104bf294ce730ee01977d0f5f8d43	The main feature of phenylketonuria(@DISEASE$) is @PHENOTYPICFEATURE$.	has_symptom
+52f3816505276e5ba001398be0a00bf14a1efc2b	[Frequency of @PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+9fb8229adee9c2347b223938840a0e7c80f99b9c	In untreated patients, @DISEASE$ (PKU) results in severe encephalopathy with @PHENOTYPICFEATURE$.	has_symptom
+c5c8e579eda9215f64ea5b05fde4bb81ed2395e5	In untreated patients, phenylketonuria (@DISEASE$) results in severe encephalopathy with @PHENOTYPICFEATURE$.	has_symptom
+c85145b63eae119c285110d813b6500daff0ddfa	[Atypical forms of phenylketonuria (@DISEASE$), cause of @PHENOTYPICFEATURE$].	has_symptom
+175460a0a26d8f76f405f6f1081416c3e9654881	[Atypical forms of @DISEASE$ (PKU), cause of @PHENOTYPICFEATURE$].	has_symptom
+4e547828d1c0e6694eeb15fa3c0f5e7f20cd3307	[Does @DISEASE$ even today cause @PHENOTYPICFEATURE$?].	has_symptom
+969068ef72826be3105637823275bf54226026dc	Degrees of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8137bb3dbfa2cadb7c26b261928c75dc1e857aa9	Defects in @DISEASE$ (CSA), a gene involved in nucleotide excision repair, cause an autosomal recessive syndrome characterized by growth failure, progressive neurological dysfunction, premature aging, and @PHENOTYPICFEATURE$ and atrophy.	has_symptom
+7e78fd12ff9b9f4f43e9e5747135a97cedc4edb1	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, vomiting, diarrhea, and @PHENOTYPICFEATURE$.	has_symptom
+453813504e0827752f9c44d817cf8c25002268c1	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like @PHENOTYPICFEATURE$, myalgia, severe headache, nausea, vomiting, diarrhea, and abdominal pain.	false
+f96fb84c8a51c700f7402a4edd884b2b6b3b4b32	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, @DISEASE$, and abdominal pain.	false
+e32c10448989bb526ae1c3e818736a0edeb9e703	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, diarrhea, and abdominal pain.	false
+ea42c43ba9f76eb20002ced1e3a078511fe63294	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like @PHENOTYPICFEATURE$, myalgia, severe headache, nausea, vomiting, @DISEASE$, and abdominal pain.	false
+462490c2c235b68dc9314cb86a035bad2777a9c3	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, diarrhea, and @DISEASE$.	false
+5e578a7a05f644ae3f73e222ade138ac85a46096	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne disease characterized by nonspecific symptoms like @PHENOTYPICFEATURE$, myalgia, severe headache, nausea, vomiting, diarrhea, and @DISEASE$.	false
+d869e5c9862159d690c75b59daaacbc70464b9ac	Other forms are much less common, and include abetaliproteinemia, @PHENOTYPICFEATURE$ with vitamin E deficiency (AVED), ataxia with oculomotor apraxia types 1 (AOA1) and 2 (AOA2), early onset cerebellar ataxia with retained reflexes, @DISEASE$, and Joubert syndrome.	has_symptom
+05ad1e690a5842545ad47a3e0c351d55ecf9044e	Other forms are much less common, and include abetaliproteinemia, ataxia with vitamin E deficiency (AVED), ataxia with oculomotor apraxia types 1 (AOA1) and 2 (AOA2), early onset @PHENOTYPICFEATURE$ with retained reflexes, @DISEASE$, and Joubert syndrome.	has_symptom
+331af61e5dee497b660ee7ca7a2d25e5eceaf256	B. J., Lai, G.-T., Menade, M., Larivi?re, R., Minotti, S., Gehring, K., Chapple, J.-P., Brais, B., Durham, H. D. Sacsin, mutated in the @PHENOTYPICFEATURE$ @DISEASE$, regulates intermediate filament assembly and dynamics.	has_symptom
+e3e7dcad0b16710e466657785e52ea26cc4fb244	Sacsin, mutated in the @PHENOTYPICFEATURE$ @DISEASE$, regulates intermediate filament assembly and dynamics.	has_symptom
+bdfe6e02a6eecf3c91d8345e1b4994c052a3fe95	@DISEASE$ is one of the rare, most fatal progressive @PHENOTYPICFEATURE$ epilepsies reported.	has_symptom
+1f16d3b173733f2587dfbb479b5fbd4b3eb82652	A 16-year-old female patient had @PHENOTYPICFEATURE$ epilepsy caused by @DISEASE$.	has_symptom
+7562d16a83328b7d6f0ecb3d88d0ce8dc208a0c5	Progressive @PHENOTYPICFEATURE$ epilepsy with polyglucosans (@DISEASE$): evidence for a third locus.	has_symptom
+e72763ef693e77d7277f975849115a39931df8a5	Progressive @PHENOTYPICFEATURE$ epilepsies: description of a case of @DISEASE$ with autopsy.	has_symptom
+cb9e3fd3d471e8aada535ccd127f47a78a8a661a	@DISEASE$ is a form of progressive @PHENOTYPICFEATURE$ epilepsy with autosomal recessive transmission.	has_symptom
+01f6dae828eb173eaf3b83d14b2881c4a72eb04a	@DISEASE$ is included among the progressive @PHENOTYPICFEATURE$ epilepsies.	has_symptom
+9005c204f8ebf37c3f2ed76badb26dce20a669bb	Progressive @PHENOTYPICFEATURE$ epilepsy with polyglucosan bodies: @DISEASE$.	has_symptom
+500061228c9d53e96e2d2051ee627dc1c7de31d1	A 17-year-old patient had @PHENOTYPICFEATURE$ epilepsy caused by @DISEASE$.	has_symptom
+9d1bf51716f5f4b7bd3d4ca848f2e0258694bb69	@DISEASE$ as a cause of visually exacerbated @PHENOTYPICFEATURE$ attacks in a dog.	has_symptom
+3838849b90d725676815837d0a49477672b8195b	@DISEASE$ is a fatal autosomal recessive form of progressive @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+e931966b7c65af01e6853c7ad0c23f7abf7519f0	Terminal chromosome 4q deletion syndrome in an infant with @PHENOTYPICFEATURE$ and @DISEASE$ features: review of literature.	has_symptom
+be97f38284342ee2a250342e5d3a25eb6a91f3f8	A de novo 4.4-Mb microdeletion in 2p24.3 ? p24.2 in a girl with bilateral @PHENOTYPICFEATURE$, microcephaly, digit abnormalities and @DISEASE$.	has_symptom
+b7839bd1ce17c66413a0f349efc944dfb89e4c1a	A de novo 4.4-Mb microdeletion in 2p24.3 ? p24.2 in a girl with bilateral hearing impairment, @PHENOTYPICFEATURE$, digit abnormalities and @DISEASE$.	false
+db6cc6a9d80b6cbb0081581469be622eb08ce2a7	A de novo 4.4-Mb microdeletion in 2p24.3 ? p24.2 in a girl with bilateral @DISEASE$, @PHENOTYPICFEATURE$, digit abnormalities and Feingold syndrome.	false
+85aa0372eb162e14813c061a0b28ec596823b0e7	Surgical correction for @DISEASE$ is recommended even in adult patients before aggravation of @PHENOTYPICFEATURE$ and arrhythmia.	has_symptom
+029a0d4db39425c308d0a875f22bceb1d33e0b1d	Surgical correction for @DISEASE$ is recommended even in adult patients before aggravation of cardiac failure and @PHENOTYPICFEATURE$.	false
+fbcb65b940bdec4f04362868adaa35c760fd775a	Surgical correction for ECD is recommended even in adult patients before aggravation of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1ca1f0d3649cf727d232256016dd9dfaa565565f	In both groups, we analyzed the baseline clinical-demographic characteristics, extension of the coronary disease (@DISEASE$), success of the PA, appearance of @PHENOTYPICFEATURE$ (HF) and in-hospital mortality in the first 28 days after admission.	has_symptom
+4c95ceeab16a083c23f79cd39f6ba0c2de1f001e	@DISEASE$ causes @PHENOTYPICFEATURE$, and if not treated early, irreversible pulmonary hypertension.	has_symptom
+b8dd8a7e5f0b3b14bc703a9028d892bbbd3f878d	Patients with atrioventricular septal defect (@DISEASE$) may require pulmonary artery banding (PAB), either as a part of a staged univentricular palliation or to allow delayed biventricular repair in patients presenting with early @PHENOTYPICFEATURE$.	has_symptom
+4571fcb10b42271f92dc123b9ae9a0768a5bf9f1	Hyperoxic lung injury is pathologically characterized by alveolar @PHENOTYPICFEATURE$, interlobular septal edema, @DISEASE$, lung inflammation, and alveolar hemorrhage.	has_symptom
+0bbdbde812ba12d4b5349cd7eb76fa117197c050	Hyperoxic lung injury is pathologically characterized by alveolar edema, interlobular septal @PHENOTYPICFEATURE$, @DISEASE$, lung inflammation, and alveolar hemorrhage.	has_symptom
+e71980a2d014aaaf09b4846f09fd03a532a3d893	@DISEASE$ (HMD), the most common life-threatening respiratory disorder of newborns, is associated with lung injury manifested by alveolar proteinaceous @PHENOTYPICFEATURE$.	has_symptom
+8b4fa3501ec00cac169315fc241fd5fae185ea12	Previous studies demonstrated that high-frequency oscillatory ventilation (HFOV) begun at birth limits the development of alveolar proteinaceous @PHENOTYPICFEATURE$ in premature monkeys at risk for @DISEASE$ (HMD).	has_symptom
+b3c4eb07c2e568289870847c72bbf79e9bbc14c0	@DISEASE$ (RDS) is characterized by a relative surfactant deficiency and air-space @PHENOTYPICFEATURE$.	has_symptom
+f836d2ad0c666f529698d8f8c3fb45241fbb4d66	@DISEASE$ (BWS) is an @PHENOTYPICFEATURE$ syndrome known as exomphalos-macroglossia - gigantism syndrome.	has_symptom
+0210ae1fb263f3c5b1c1ef7b5ec2bf6f27c82aee	Beckwith-Wiedemann syndrome (@DISEASE$) is an @PHENOTYPICFEATURE$ syndrome known as exomphalos-macroglossia - gigantism syndrome.	has_symptom
+2287aadbecc7d319a0ed08915d6e54670bd9fed9	Beckwith-Wiedemann syndrome (BWS) is an @PHENOTYPICFEATURE$ syndrome known as @DISEASE$.	has_symptom
+385de49bbb8a4704d8ade0602e98ccb9f58e49ac	@DISEASE$ (BWS) is an @PHENOTYPICFEATURE$ disorder with a heterogeneous phenotypic spectrum.	has_symptom
+b895a0c3af211099243b9dcbb8fd8fe7551330e4	Beckwith-Wiedemann syndrome (@DISEASE$) is an @PHENOTYPICFEATURE$ disorder with a heterogeneous phenotypic spectrum.	has_symptom
+a483886f6e3a60397802e7aaa818069694e53423	@DISEASE$ (BWS) is a complex @PHENOTYPICFEATURE$ disorder usually recognized at birth.	has_symptom
+465bdf3eae1e181edce716301bf557a928d4529f	Beckwith-Wiedemann syndrome (@DISEASE$) is a complex @PHENOTYPICFEATURE$ disorder usually recognized at birth.	has_symptom
+002531ab4795243ea1430cde4d1a26c90a5077ab	Beckwith-Wiedemann syndrome (@DISEASE$) is characterized by congenital @PHENOTYPICFEATURE$, macroglossia and omphalocele or umbilical hernia.	has_symptom
+d8b51def3ff569660667ec1280916a6e51691097	@DISEASE$ (BWS) is characterized by congenital @PHENOTYPICFEATURE$, macroglossia and omphalocele or umbilical hernia.	has_symptom
+eec625837dd211d8253024110f4780042bf405d2	are associated with the @PHENOTYPICFEATURE$ disorder @DISEASE$ (BWS).	has_symptom
+3b26a1cf10cc5ec1cf8d6d2797f68c896a0cb714	are associated with the @PHENOTYPICFEATURE$ disorder Beckwith-Wiedemann syndrome (@DISEASE$).	has_symptom
+5c3d6695a55e2bd311dffa771a8419bc7663908f	@DISEASE$ (BWS) is a rare paediatric @PHENOTYPICFEATURE$ disorder.	has_symptom
+16963ff2472d4d9f3148541ffa12c47a73ce3a3c	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare paediatric @PHENOTYPICFEATURE$ disorder.	has_symptom
+72998b2a12cf5168822f3ee08cde9c1270c28963	@DISEASE$ (BWS) is an @PHENOTYPICFEATURE$ disorder with various congenital anomalies.	has_symptom
+aeffdbbbb857d5fd7de4200b8f39e8123d620149	Beckwith-Wiedemann Syndrome (@DISEASE$) is an @PHENOTYPICFEATURE$ disorder with various congenital anomalies.	has_symptom
+06916dcc724ed80cbe9e3bcfde692a0d4cbdbe5d	@DISEASE$ is a disorder of somatic @PHENOTYPICFEATURE$.	has_symptom
+c2ff8e8887ca00e13fc8fe1977fff85d6a42b6e0	@DISEASE$ (BWS) is a rare congenital @PHENOTYPICFEATURE$ disorder.	has_symptom
+dbb9c162d9fa892f59919959ead5c300e01be90a	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare congenital @PHENOTYPICFEATURE$ disorder.	has_symptom
+1e312730dbc94fc2b708fc90cc07c820418b8738	@DISEASE$ (BWS) is the most common @PHENOTYPICFEATURE$ disorder in infants.	has_symptom
+6489c370abd6396c9e92887635f7ea2b0dfc2cfb	Beckwith-Wiedemann syndrome (@DISEASE$) is the most common @PHENOTYPICFEATURE$ disorder in infants.	has_symptom
+42ebf58c9e28b8b59d958b64d07a7724051d648a	The @DISEASE$ is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, @PHENOTYPICFEATURE$, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations.	has_symptom
+28d614da1dec87c4c0aab41fd635c4f895b4c4a8	@PHENOTYPICFEATURE$ and ionizing radiation hypersensitivity in a mouse model for @DISEASE$.	has_symptom
+e4039a657fde1aca44cadf380d4b9ed8ca3dbdab	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	has_symptom
+c85343ebad03ade69e9127b7179cc0fb8b7d735d	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+7fe53f1a3bee4d1a7a7fe1090e36eb61529af53a	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce39e0ad682d339253435e8222161018c5b7c39d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e472f6e15ca6c8cc1a7cdc7f3764aca549d0b652	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, @DISEASE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2ac2a9c39f597da74c00319cb7fabef720db2146	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e577047cfc349c0d037680387ea922ca2bc9559d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2c971b949d0fa6132b3ab3fd14483bba1e624182	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+2ecf8b4c99fe1f2e5ff81d8a2abba5f79261fcab	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+42415993a14e8e679004594d6975b5be6401e637	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+53aab6fa3be0b4383565daf0e08f8486b96e19d5	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @DISEASE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+0e38076c251718c464600bc02f244bb4f84d5007	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+d0e254a92b3c5146f536e87caf3b7d1a7369d6f1	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0113f5a1dc4887245f2d966cf2e28efa78096d81	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	false
+f68e13015fd03a5d1b689bc9b00fc6bb1bee18c0	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce3db0aeb99a63fe5b67f738ff7a2e666685718f	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+f924c2c8a69979a77d541d62616dfae1e1a3626c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, @DISEASE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+1d2636a215fee336acfdb1ffc095a31a0f41c09c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+43bd9f61f1203850f530db9486bc4df7d67ebe29	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+c8883e7f60937d5f41b23a5613dc5825aac28afb	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @DISEASE$ and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e705e023d42cfbee9431a28f7260a0013159327d	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+821c7d954bd481debe24380e8a185ff7bcaef602	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @DISEASE$ and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+605eda68e75e074ed183d334321e6a5d58bbcb3e	Cockayne syndrome is an @DISEASE$, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0f5523d9a91eeaa1fdf79147ab01d1457f32dc31	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+1ff383dde282d2787decea267d41b58191579d2c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+bd202bdd8c2b2c49a1238e7960cdaa324b0acbc1	@DISEASE$ (dancing eye syndrome) is a rare paraneoplastic syndrome characterized by opsoclonus, myoclonus, and ataxia, usually accompanied by @PHENOTYPICFEATURE$.	has_symptom
+20d3874baea42553bcb369dfc4c6e3e88744fe05	Opsoclonus myoclonus syndrome (@DISEASE$) is a rare paraneoplastic syndrome characterized by opsoclonus, myoclonus, and ataxia, usually accompanied by @PHENOTYPICFEATURE$.	has_symptom
+992a0f6f8f7f3427505df0dbfc78b8d3229bc94e	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, hearing loss, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with @DISEASE$ who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying sensorineural hearing loss; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, @PHENOTYPICFEATURE$, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant hearing loss is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic adenoiditis); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	has_symptom
+e784f5308d211928e3896e1a3bc481a6b9531c25	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, hearing loss, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with OME who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying @PHENOTYPICFEATURE$; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, behavioral problems, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant hearing loss is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic @DISEASE$); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	false
+6ae40aeeb39eb4d8cac837074058bf41770c26d0	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, @DISEASE$, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with OME who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying @PHENOTYPICFEATURE$; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, behavioral problems, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant hearing loss is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic adenoiditis); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	false
+a3c3cf15cd52463483ef86efefb17592f7d45628	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, hearing loss, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with OME who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying @PHENOTYPICFEATURE$; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, @DISEASE$, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant hearing loss is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic adenoiditis); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	false
+4196b2c79e3169f2155813bcae1e8f48ccb05cb8	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, hearing loss, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with OME who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying @PHENOTYPICFEATURE$; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, behavioral problems, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant @DISEASE$ is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic adenoiditis); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	false
+8b9cde39557355af332e5af239c98544777ebcf1	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, hearing loss, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with @DISEASE$ who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying @PHENOTYPICFEATURE$; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, behavioral problems, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant hearing loss is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic adenoiditis); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	false
+43571928b9f079073e7bd8a1139f92fa189c6fa0	@DISEASE$ (ADCA-DN) is characterized by late onset (30-40 years old) @PHENOTYPICFEATURE$, sensory neuronal deafness, narcolepsy-cataplexy and dementia.	has_symptom
+a092a10d320940966cf8084a9026ae63e66405e5	@DISEASE$ (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal @PHENOTYPICFEATURE$, narcolepsy-cataplexy and dementia.	false
+7b9bc1816ef3aabc3ccd18c29fe2f51930b7139b	Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) @DISEASE$, sensory neuronal @PHENOTYPICFEATURE$, narcolepsy-cataplexy and dementia.	false
+f2cd30a78d2cc9c2a4e5787269016fcfe3a54c25	Women with a mild form of the disease with moderate @PHENOTYPICFEATURE$ may give birth to an infant with very severe renal failure leading to death either in infancy or in utero due to severe @DISEASE$ or hypoplasia.	has_symptom
+47f058cff3a9747bf31a915d14e84d39f853ea64	The coexistence in the same family of pleiomorphic renal malformations (cysts, @DISEASE$ or hypoplasia, @PHENOTYPICFEATURE$) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	has_symptom
+f8b7c705fe39752d3764e9c30a617a6c33d68ba1	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, renal agenesia or hypoplasia, renal failure) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic @DISEASE$.	false
+f82fb3f57f570029b75841e69f79b28eb4b2c09b	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, renal agenesia or hypoplasia, renal failure) with Mody-type @DISEASE$, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+a30fb59cf3a71781c34fc2ee1be8b893be18b0a7	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, @DISEASE$ or hypoplasia, renal failure) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+3ab42cc4d869ab996e459a0e124de5ae03b8bcbb	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, renal agenesia or hypoplasia, @DISEASE$) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+ee90cbcfd92a4893e47aa872844ea23001e8c93a	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, renal agenesia or hypoplasia, renal failure) with @DISEASE$-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+f95952b82838b6accaa8a23e12d2afa439052133	Congenital solitary kidneys, which are susceptible to @PHENOTYPICFEATURE$, have been considered mostly due to unilateral renal agenesis and partly due to @DISEASE$.	has_symptom
+0959d2a907cbc69833264a122577d5158a742eb5	@DISEASE$ (ADHED) is a disorder characterized by fine, slow-growing scalp and body hair, sparse eyebrows and eyelashes, decreased sweating, @PHENOTYPICFEATURE$, and nail anomalies.	has_symptom
+1cb6bf8783c886e83cdb61bbc746ed7c35c26279	It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked @PHENOTYPICFEATURE$, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or @DISEASE$.	has_symptom
+786c4285534954d3ceb044b3861632cd789f7549	We present the case of a 6-year-old boy with a coarse face, @PHENOTYPICFEATURE$, and malocclusion with anterior open bite who had been diagnosed with @DISEASE$.	has_symptom
+213d069a2a6873457d6aec4d02e856bbb53462a3	This case is a patient with a @PHENOTYPICFEATURE$ who had @DISEASE$.	has_symptom
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+6637d6c95552144e97cc73d3c7cea059952d90e8	In addition, the double mutant mouse embryos exhibit skeletal defects and @PHENOTYPICFEATURE$, which are manifestations observed frequently in the @DISEASE$, another overgrowth disorder overlapping phenotypically, but not genetically, with BWS.	has_symptom
+a0946d5ec895f8c0ea7630d2ac2ad68882a2efd8	In addition, the double mutant mouse embryos exhibit skeletal defects and cleft palate, which are manifestations observed frequently in the Simpson-Golabi-Behmel syndrome, another @PHENOTYPICFEATURE$ disorder overlapping phenotypically, but not genetically, with @DISEASE$.	false
+37c211c06e6054a1e65a3c8eaffa9beed7878c59	In addition, the double mutant mouse embryos exhibit skeletal defects and @DISEASE$, which are manifestations observed frequently in the Simpson-Golabi-Behmel syndrome, another @PHENOTYPICFEATURE$ disorder overlapping phenotypically, but not genetically, with BWS.	false
+9fb94e15b825dc4d6fd7601bfb3efafa947967a2	In addition, the double mutant mouse embryos exhibit skeletal defects and cleft palate, which are manifestations observed frequently in the @DISEASE$, another @PHENOTYPICFEATURE$ disorder overlapping phenotypically, but not genetically, with BWS.	false
+cd2669cd14340e3f649473bc9b79591dd5173951	Enlargement of a craniopharyngioma cyst in the early period (up to 1 year) after RT/RS is usually transient and does not require surgical treatment (except cases where worsening of neurological symptoms @DISEASE$, or occlusive @PHENOTYPICFEATURE$ develops).	has_symptom
+9b6eb3b2dfa1f9a3d612aebdc6d9cd446f0f0fba	Studies of the central nervous system in Apert syndrome indicate that distortion ventriculomegaly is common, but progressive @PHENOTYPICFEATURE$ @DISEASE$ infrequently.	has_symptom
+8da8c786ce28085823ac785983a4e4c7dc918508	This report demonstrates clinical and computed tomographic features of a case of @DISEASE$ with emphasis on the usefulness of transfontanelle ultrasonography in assessing for life-threatening intracerebral cysts or @PHENOTYPICFEATURE$, particularly in resource-limited settings, where neuroimaging is not readily available or affordable.	has_symptom
+15f0483784702978ba8eca160e573e0c7fe852be	Less neuron death in hydrocephalic rats after acute forebrain ischemia suggests that neuronal tolerance to ischemia @DISEASE$ during @PHENOTYPICFEATURE$.	has_symptom
+ea3e83af7d150bc8d7c8a204afdc81f0972a5d2f	Frequently, associated @PHENOTYPICFEATURE$ @DISEASE$, which may recur after treatment.	has_symptom
+437aa7f203eee342b99a40184ea1898c05784515	We suggest that the minimal diagnostic criteria for @DISEASE$ include central nervous system cyst or @PHENOTYPICFEATURE$, orbital cysts or microphthalmia, and focal skin defects.	has_symptom
+847d93897d61995f39bfc53326142060dd31ffba	We suggest that the minimal diagnostic criteria for @DISEASE$ include @PHENOTYPICFEATURE$ or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects.	false
+c7301200d088420025d463c5ec55fa7df8da2d30	We suggest that the minimal diagnostic criteria for Delleman syndrome include central nervous system cyst or @DISEASE$, orbital cysts or @PHENOTYPICFEATURE$, and focal skin defects.	false
+c1727c0a7ae90186989cf151efc3a051f3c46ed6	We suggest that the minimal diagnostic criteria for Delleman syndrome include @PHENOTYPICFEATURE$ or @DISEASE$, orbital cysts or microphthalmia, and focal skin defects.	false
+01726649e4a7bfdd8606a67e74431474c996a7a4	We suggest that the minimal diagnostic criteria for @DISEASE$ include central nervous system cyst or hydrocephalus, orbital cysts or @PHENOTYPICFEATURE$, and focal skin defects.	false
+4ec5c429de866c9dcf5d065ea796d5d8f8e93cfc	We advocate the use of anthelmintic treatment with albendazole in all cases of intraventricular cysts, and if @PHENOTYPICFEATURE$ @DISEASE$, then shunt procedures or ventriculostomy is necessary.	has_symptom
+66249db7fd9648c247e778d68c469816cbf193b8	@DISEASE$ with ipsilateral hemipons involvement presenting as monoplegic @PHENOTYPICFEATURE$.	has_symptom
+e78f4468ccff5c0048f2f4394cf241f6c0929b56	@DISEASE$: an often unrecognized but treatable cause of intractable @PHENOTYPICFEATURE$: case report from Korle Bu Teaching Hospital, Accra, Ghana.	has_symptom
+007a6c24e7424d791daf94320911ed7c07b2d662	@DISEASE$ (PDE) is a rare autosomal recessive disorder that causes @PHENOTYPICFEATURE$ in neonates and infants.	has_symptom
+fb5cba5871f0eb9212fe579eceb28f00a5cb6b64	@DISEASE$ (PDE) is a rare autosomal recessive disorder that causes intractable @PHENOTYPICFEATURE$, especially in neonates and infants.	has_symptom
+01b5b82a82b600c14a6265eb37a4718cec131c23	@DISEASE$ (PDE) is a rare autosomal recessive disorder causing intractable @PHENOTYPICFEATURE$ in neonates and infants.	has_symptom
+b34d23908cd56f97397dc089334f7fb2d836be0a	@DISEASE$ (PDE) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and therapeutic response to pharmacological dose of pyridoxine.	has_symptom
+857ddbdfeafd3ef33272145c305d61eac7b25d31	Among these, pyridoxine-dependent @PHENOTYPICFEATURE$ due to @DISEASE$ is by far the most common, although exact incidence data are lacking.	has_symptom
+b3bf72f4d4333437ecb35e060302abde2cfed9fe	@DISEASE$: an under-recognised cause of intractable @PHENOTYPICFEATURE$.	has_symptom
+5248877738f8643d68354fa248a638bb6cb027a7	@DISEASE$ @PHENOTYPICFEATURE$ (PDE; OMIM 266100) is a disorder associated with severe seizures that can be controlled pharmacologically with pyridoxine.	has_symptom
+8c4b7575f8d56727352000e97b5aa8782f54ff8c	@DISEASE$ seizure (PDE; OMIM 266100) is a disorder associated with severe @PHENOTYPICFEATURE$ that can be controlled pharmacologically with pyridoxine.	has_symptom
+6c448633781fb57d22733bf09ca952ee2939df81	@DISEASE$ (PDE) is a rare autosomal recessive disorder characterized by intractable @PHENOTYPICFEATURE$ in neonates and infants.	has_symptom
+cda48955b0ff13bfed08de5e37211e71a264f9f8	@DISEASE$ (PDE) is characterized by therapy-resistant @PHENOTYPICFEATURE$ (TRS) responding to intravenous (IV) pyridoxine.	has_symptom
+4ca3ee5a7e68ecde630248827546bc384b2bee80	We present one patient with @DISEASE$ and another with linear scleroderma in coup de sabre, with focal neurologic deficits and intractable @PHENOTYPICFEATURE$ arising from the hemisphere ipsilateral to the cutaneous lesion.	has_symptom
+2e8f2714bb351e13bfde03b8edba713114188856	This article reviews the literature related to the presentation, epidemiology, diagnosis, and treatment of @DISEASE$ and linear scleroderma en coupe de sabre with focus on the significant correlation with neurologic disease, particularly @PHENOTYPICFEATURE$.	has_symptom
+9b128069ff90ce8d9c69af2188f05b7aceb45b90	We report the case of a 4 year-old boy with @DISEASE$ who had intractable @PHENOTYPICFEATURE$, progressive cerebral hemisphere atrophy, and fatal brain stem involvement.	has_symptom
+b4c871084d1bd4eb96bfb6576442844630fa999b	[A syndrome of @DISEASE$, circumscribed scleroderma and focal @PHENOTYPICFEATURE$ associated with bilateral uveitis].	has_symptom
+4d19a21f224fcbc1fe87178b49f49bd209d15be8	[A syndrome of @DISEASE$, circumscribed scleroderma and focal epileptic seizures associated with bilateral @PHENOTYPICFEATURE$].	false
+3c6bbe35e31a3d9dfec53f1835a1f5fdccd32e33	[A syndrome of facial hemiatrophy, circumscribed scleroderma and focal @DISEASE$ associated with bilateral @PHENOTYPICFEATURE$].	false
+20c66b6007234c01db5c33875d1ff660aab9441b	Remission of @PHENOTYPICFEATURE$ with immunosuppressive therapy in @DISEASE$ and en coup de sabre linear scleroderma: Case report and brief review of the literature.	has_symptom
+dd5ba37b60c7b3e80631fd939fb670d82705ec9a	A case of a 12-year-old boy with @DISEASE$ and syringomyelia suffering from severe headache attacks and @PHENOTYPICFEATURE$ is reported herein.	has_symptom
+0fb4341ca473daf54e6272cb5e450eec3c3ce4b1	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", @DISEASE$, cognitive impairment, memory, @PHENOTYPICFEATURE$, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	has_symptom
+122f76705b8ec9703195e38f979b8ed38416c571	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, @DISEASE$, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+6344c6f284b6ca79e58a1c3946aea2477debceee	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, @DISEASE$, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+bd0fc1ed8c3553de5e746f7a8948c75faea82781	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, @DISEASE$, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+50f3cd13eb9cc9f6485fe62e78d6b42a67623a66	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, @DISEASE$, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+22d47afaad08b5449dbc212e3e3d18ec4017e7d0	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (@DISEASE$-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+bf7237e88e83d2b42f041a026c69c2f36f561c74	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", @DISEASE$, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+091fc3a0c0678f2a261196b84fc5e7582246e937	We performed a literature search in PubMed using the following MeSH terms, @DISEASE$ sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+ea2f9c649ea60fef596393244a054ac15d8a4a91	@DISEASE$ after @PHENOTYPICFEATURE$.	has_symptom
+9859a95b0955bedf74270e04458b1780ba3d5055	@PHENOTYPICFEATURE$, one of the major neurologic complications of @DISEASE$, could precede the succeeding neurocutaneous changes.	has_symptom
+362024cd43995d25670b060c47b30f3ea911d7a9	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	has_symptom
+66edf8467b28c28579b5194f82253b5e03442f2e	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by @DISEASE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+1a075f9342d951b8f9c783a70c9dcd7b03749876	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+dedcea3729da3567ca867847c1c6bd3f3bd4dc6c	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+b66a1b0b4b79b649c4cf9d34d2b398aa7816a050	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @DISEASE$, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+ce59aaa66c88f36402905b226da8f4e7d990bcc9	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @DISEASE$, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+23593b4b27868e727f5241b9ff3942d47205f6a0	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+4cda247415e4f433ff427020448dc8baffaad7c3	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+703b59920345468f89b3802c00cebd56dd32f842	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by @DISEASE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+362cc9ca3a14547e76d79afe8cc8481462ca19ac	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+b3f51f0f020fac57348cb46ea95d53a8d7ff1911	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @DISEASE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+604f6ae9ab943d7f6eb9d9cfa6e184bd2b76aac4	Rare case of @DISEASE$ without obesity and with @PHENOTYPICFEATURE$, diagnosed in adulthood.	has_symptom
+f06d1b2812bedfc7695528154874e5d19e41fc1a	Rare case of Alstrom syndrome without @PHENOTYPICFEATURE$ and with @DISEASE$, diagnosed in adulthood.	false
+8d3099248694b739e13c36e46abe6ff32e805a42	Rare case of @DISEASE$ without @PHENOTYPICFEATURE$ and with short stature, diagnosed in adulthood.	false
+abb82bcf8421cd695157e6efa93fd6732e31d71c	We report a patient with @DISEASE$ who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	has_symptom
+ea2b029c85c0049d40871ed4479b581796f6cf40	We report a patient with @DISEASE$ who had @PHENOTYPICFEATURE$, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.	false
+1aaf806ba226493ce337ffbb0c6c765370992d27	We report a patient with Alstrom syndrome who had @PHENOTYPICFEATURE$, hepatic dysfunction, @DISEASE$ steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.	false
+a7fed0dd74b66362b08ab9a32e7aa2e6b2f2b2e5	We report a patient with Alstrom syndrome who had @PHENOTYPICFEATURE$, @DISEASE$ dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.	false
+b31b7857b68565af515a3990c6166a6f55c8e6b9	We report a patient with Alstrom syndrome who had @PHENOTYPICFEATURE$, hepatic dysfunction, hepatic steatosis and @DISEASE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+b4234e43f3d48f58b5e69847ab7cc074f6b28363	@DISEASE$ is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+1c3c1c5383013b2f1b184ab93e94e3bf90671dd1	@DISEASE$ is a rare disorder characterized by early @PHENOTYPICFEATURE$, loss of central vision, diabetes mellitus, hearing loss and short stature.	false
+32fb2dc275cdd300d73387fdf8dbc0d878e90061	Alstrom syndrome is a rare disorder characterized by early @PHENOTYPICFEATURE$, loss of central vision, @DISEASE$, hearing loss and short stature.	false
+e398d6e1c80487dc0d1de2507be79deab27549a3	Alstrom syndrome is a rare disorder characterized by early @PHENOTYPICFEATURE$, loss of central vision, diabetes mellitus, hearing loss and @DISEASE$.	false
+386a5db8c2d68960eadb2642f188d09dc266319f	Alstrom syndrome is a rare disorder characterized by early @PHENOTYPICFEATURE$, loss of central vision, diabetes mellitus, @DISEASE$ and short stature.	false
+97220b8278559206a9a9793e77b62055fd56efbd	Clinical features of @DISEASE$ closely resemble accelerated aging, such as cataract, @PHENOTYPICFEATURE$ skin, diabetes and tumorigenesis.	has_symptom
+8e2c4c4d4e04588f34a4be33902470478b54b0de	Clinical features of Werner's syndrome closely resemble accelerated aging, such as @PHENOTYPICFEATURE$, @DISEASE$ skin, diabetes and tumorigenesis.	false
+4951d593559735df5c0384971829c9fff373ff8b	Clinical features of @DISEASE$ closely resemble accelerated aging, such as @PHENOTYPICFEATURE$, scleroderma skin, diabetes and tumorigenesis.	false
+2d9fa1c194107641c6fb44a0011448dbc3e28fa5	The diagnosis of @DISEASE$ was made because the patient had such clinical features as bird-like or "masked" face, short stature, graying of the hair in youth, cataracts in youth, skin changes like @PHENOTYPICFEATURE$ principally on limbs, early menopause.	has_symptom
+cb0acc2e33c40dc35945cc394fd69d8029fe6da9	The diagnosis of Werner's syndrome was made because the patient had such clinical features as bird-like or "masked" face, short stature, graying of the hair in youth, @PHENOTYPICFEATURE$ in youth, skin changes like @DISEASE$ principally on limbs, early menopause.	false
+6a0091e0acc0b2bcbb6654a95a04985ff7a20332	The diagnosis of @DISEASE$ was made because the patient had such clinical features as bird-like or "masked" face, @PHENOTYPICFEATURE$, graying of the hair in youth, cataracts in youth, skin changes like scleroderma principally on limbs, early menopause.	false
+0d5c6e0e1098c2be8a4f6d8588c0dba1dc3e0c40	The diagnosis of Werner's syndrome was made because the patient had such clinical features as bird-like or "masked" face, @PHENOTYPICFEATURE$, graying of the hair in youth, cataracts in youth, skin changes like @DISEASE$ principally on limbs, early menopause.	false
+42a8c694abc0adffab113ac74748628366406338	The diagnosis of @DISEASE$ was made because the patient had such clinical features as bird-like or "masked" face, short stature, graying of the hair in youth, @PHENOTYPICFEATURE$ in youth, skin changes like scleroderma principally on limbs, early menopause.	false
+d8322d1001176062a7a8613cb235a2b9034e7750	Abstract @DISEASE$ (WS), caused by the mutation of the RecQ3 DNA helicase gene (loss of function), manifests @PHENOTYPICFEATURE$-like skin changes and juvenile cataracts in addition to a variety of clinical and biochemical aging phenotypes at an early stage of life, followed by death at an average age of 46 years.	has_symptom
+69e25ec1757c2be158660a5bd3406282df9ae471	According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and @PHENOTYPICFEATURE$-like skin, in addition to the juvenile cataracts, the clinical diagnosis of @DISEASE$ was made.	has_symptom
+c4361cf7acce4b490631000aba594230986d8706	According to the ocular symptoms and systemic signs, including low body weight, a @PHENOTYPICFEATURE$, a bird-like face, atrophic and scleroderma-like skin, in addition to the juvenile cataracts, the clinical diagnosis of @DISEASE$ was made.	false
+a762c0b3f7051a409963bd255c68637dd24712e0	According to the ocular symptoms and systemic signs, including low body weight, a @PHENOTYPICFEATURE$, a bird-like face, atrophic and @DISEASE$-like skin, in addition to the juvenile cataracts, the clinical diagnosis of Werner's syndrome was made.	false
+58e36e6acc8b49cd24a018600f1dd7a9c3858547	According to the ocular symptoms and systemic signs, including low body weight, a @PHENOTYPICFEATURE$, a bird-like face, atrophic and scleroderma-like skin, in addition to the juvenile @DISEASE$, the clinical diagnosis of Werner's syndrome was made.	false
+b7a10a008d21cb18279e98cbfa70d14e18753653	The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and @PHENOTYPICFEATURE$ due to @DISEASE$ and renal hypoplasia are reported.	has_symptom
+ac51e0bc0fd069da94d93711874a0e29a2a101f7	Three other X-linked conditions were identified: in one family, the @DISEASE$, in another, Duchenne muscular dystrophy, and in two families X-linked MR and @PHENOTYPICFEATURE$.	has_symptom
+0e3e2de92d2a76fd65d72bc16b3161433419fd98	The patients presented with the characteristic symptoms of @DISEASE$ (JBS), including: mental retardation, @PHENOTYPICFEATURE$, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	has_symptom
+b947b71fec71d96ec44106bc09f09f79440e56b7	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ @DISEASE$, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+4dda9c2d06069950d619f735f4a803c5e3ba51ed	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye @DISEASE$, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+28f42403671e2114b47d55408708dea07dec8cc6	The patients presented with the characteristic symptoms of Jacobsen syndrome (@DISEASE$), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+168da06e150cf91a0ac2d71129d94aa6dadfac80	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and @DISEASE$, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+5e2322f170679ce8a2415f55f2eac9e257d17a89	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, @DISEASE$ and toe anomalies in single cases.	false
+8c4f73535814c7aa6cd34d4d296e71edf2965111	The patients presented with the characteristic symptoms of @DISEASE$ (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+4d7dfb94d64b0e44a6acfb0fd7a2ff57b33f9ba5	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, @DISEASE$ and toe anomalies in single cases.	false
+d821f32035807b5e07bf38ab1fbe30caad168283	The patients presented with the characteristic symptoms of Jacobsen syndrome (@DISEASE$), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+def90852ba7146617db56abb366cc1f9e5048f1c	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and @DISEASE$, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+167e8b639ebe7125a8cdda88b2ab13ce05bbd1e4	The patients presented with the characteristic symptoms of @DISEASE$ (JBS), including: @PHENOTYPICFEATURE$, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+2704f4213997d42ac446be43a2ed8ee06140ef84	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, @DISEASE$, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+fc6010f1e53d68111af79dde4d2ce75ba98d5519	The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+8983d0a13d13df9ec92530250f9da8997b381529	Features commonly seen in @DISEASE$ were @PHENOTYPICFEATURE$, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	has_symptom
+0c499b84d7edb63843bb15403174a098997f6fa9	Features commonly seen in Jacobsen syndrome were @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+cc2851033e63347a2ec19e40c9a8b5b02e8a828f	Features commonly seen in Jacobsen syndrome were short stature, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, strabismus, distal hypospadia @DISEASE$, and mild thrombocytopenia.	false
+acecfad70dc679b12871a6d9952f3025ef2909df	Features commonly seen in Jacobsen syndrome were short stature, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+104c9a7235ca415cc1f1e333844fa52a3571d2e7	Features commonly seen in @DISEASE$ were short stature, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+c54ce7088742b4c42fd9edaefa955f86a5a54831	Features commonly seen in Jacobsen syndrome were short stature, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild @DISEASE$.	false
+abefb36c740be4f53610761d0dad300d21897ba9	Features commonly seen in Jacobsen syndrome were short stature, @PHENOTYPICFEATURE$, @DISEASE$, cryptorchidism, strabismus, distal hypospadia glandis, and mild thrombocytopenia.	false
+b069d7934a02bc37780529e51e8a952091a72227	We report on a 26-year-old woman with @PHENOTYPICFEATURE$, typical facial features of @DISEASE$, exophthalmos, contractures of elbow and knee joints, severe muscular hypotonia, no ability to walk, and no speech development.	has_symptom
+14879bd18fcdff255164abc1610f27b846d038b3	Sequencing of the four genes associated with @DISEASE$ detects variations in approximately 60-70% of German patients with @PHENOTYPICFEATURE$.	has_symptom
+67516c53e04b683874799f79441928cea7f52f13	Mutations in its encoding gene cause @DISEASE$ type I (OCA1), the most severe form of @PHENOTYPICFEATURE$, which is a group of autosomal recessive disorders characterized by reduced or absent production of melanin in skin, hair and eyes.	has_symptom
+cb0391c618f0e0b697853ec06652d48259421818	Oculocutaneous @PHENOTYPICFEATURE$ type 4 (OCA4) was identified as a rare form of human @DISEASE$ among a group of autosomal recessive hypopigmentary disorders.	has_symptom
+4e074bf1005e2585bc14bc8c759fe27326fe2e6d	To study color vision in patients with oculocutaneous @PHENOTYPICFEATURE$ (OCA) METHODS: We evaluated color vision in 42 patients with @DISEASE$ using the HRR color plates.	has_symptom
+0748a94edf0abfa1404368b0adad16d0baf858c4	Given the discovery of HPS-1 in an ethnic group where oculocutaneous @PHENOTYPICFEATURE$ (@DISEASE$) is highly prevalent, it is possible that HPS in India is under-diagnosed.	has_symptom
+9fe5d3f7e731e4f4e7a8e5a027535e53d048ca33	Oculocutaneous @PHENOTYPICFEATURE$ (@DISEASE$) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium.	has_symptom
+67022e1e5194c84652b8696f9651a182a11b462d	To perform molecular analysis of five Korean patients with oculocutaneous @PHENOTYPICFEATURE$ (OCA) and review the clinical and genetic characteristics of 21 Korean @DISEASE$ patients.	has_symptom
+b501ab115c2469c00efd9056af5e49578ebc9922	@DISEASE$ type I, a common form of @PHENOTYPICFEATURE$, is caused by mutations in the tyrosinase gene.	has_symptom
+8453b933a2ff61f93edd2234b4071fd28b873245	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with @PHENOTYPICFEATURE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and digital anomalies.	has_symptom
+cf2ad27c5d8c636991262779b862b21a68ea2aa0	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+c05ba41d0123a30dadee4afcce4129ccf57089a9	@DISEASE$ [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+e1437e77d0ec6b3b97e0a08c809a81d8e1bf52da	Mohr syndrome [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with @DISEASE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+9df643607e8b289bb37f338324883e4023e2f714	Mohr syndrome [orofaciodigital (OFD) @DISEASE$ type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+b3c90ede21ec742fe7ee8843092469b925ca6bff	Anorexia, nausea, @PHENOTYPICFEATURE$ and prostration were the most common manifestations, and there was one fatality from coincident @DISEASE$, which may well have been aggravated by antimony treatment.The uncertain action of these preparations on O. volvulus and the toxic manifestations that accompany their use render them unsuitable for the treatment of onchocerciasis, and it is probable that the effects of antimony on O. volvulus are produced only at or above the normal level of human tolerance.	has_symptom
+4c1d935973576fc46c99005425992406335ce04b	Mutations in the ABCA4 gene are responsible for a number of related retinal degenerative diseases, including Stargardt @PHENOTYPICFEATURE$, cone-rod dystrophy, retinitis pigmentosa, and @DISEASE$.	has_symptom
+2e8dd8fc7d11cdce723fd27bcdac5056e01548ae	The retina-specific ABC protein (ABCR) has been linked through genetic studies to a number of inherited visual disorders, including Stargardt @PHENOTYPICFEATURE$ and @DISEASE$ (ARMD).	has_symptom
+13e90a0c1b726dd4cc67e0903ecca6777a23f590	The retina-specific ABC protein (ABCR) has been linked through genetic studies to a number of inherited visual disorders, including Stargardt @PHENOTYPICFEATURE$ and age-related macular degeneration (@DISEASE$).	has_symptom
+8f0df528c85c2f30108d2c5dc0db4d6ca2dc82d7	We studied the macular pigment ocular density (MPOD) in patients with early age @PHENOTYPICFEATURE$ (@DISEASE$) before and 1 year after nutritional supplementation with lutein and docosahexaenoic acid (DHA).	has_symptom
+d7d355b95713dc3edcdec3a41fdb87cb672e73dd	Because it has been found to have significant cytotoxic potential, lipofuscin is thought to play a role in retinal degeneration diseases including @DISEASE$ and Stargardt disease, a form of juvenile @PHENOTYPICFEATURE$.	has_symptom
+ea22d5d26b2b58468d55dff46247159f884697a2	The foveal electroretinogram is abnormal with reduced acuity in @DISEASE$, juvenile @PHENOTYPICFEATURE$ (Stargardt's disease), retinitis pigmentosa, and diabetic retinopathy.	has_symptom
+75375a9b078cb08c5b31212b753940b120356ee8	@DISEASE$: @PHENOTYPICFEATURE$ and cytochrome C-oxidase deficiency: a case report and review of the literature.	has_symptom
+128482cf99d7badafb5ea154aeb9f4d5dc846fdb	In addition to the survey of the literature, we studied 6 cases of mitochondrial myopathy with @PHENOTYPICFEATURE$; 3 cases of oligo-systemic involvement confined mainly to skeletal muscles and peripheral nerves, and 3 cases of multi-systemic involvement diagnosed as myoclonus epilepsy with ragged-red fibers (MERRF) or @DISEASE$ (MELAS).	has_symptom
+bb7126fed8501b991a4e9bbae3fd8951fbc1eb3c	[@DISEASE$ with @PHENOTYPICFEATURE$].	has_symptom
+01f056324b19aa418f17cef928ee38aa3a51b818	We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the @DISEASE$, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and @PHENOTYPICFEATURE$.	has_symptom
+b73e79033180455f63a02f73803c6369c5918c18	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, @PHENOTYPICFEATURE$, developmental arrest, and ataxia.	has_symptom
+24e77b98ce3d1cf2e858b96aa2b0d17348b91805	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, microcephaly, and mild @PHENOTYPICFEATURE$, along with dysphagia, @DISEASE$, developmental arrest, and ataxia.	false
+4f1274f74301f558db77a7b829cafa3888ab7db8	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and @PHENOTYPICFEATURE$.	false
+f1c13d2ea201de6caa45ea3ac2eb7acb50509a98	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, @PHENOTYPICFEATURE$, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+4ab0868c0b08797e96349dd82b5a8427b8b9240f	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: @PHENOTYPICFEATURE$, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+d0a5c41abd56e6cb66fa3ecab6c90322876e1ecd	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild @PHENOTYPICFEATURE$, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+a205e47eed50b71a843df9cd3039f63fa3db3519	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, @PHENOTYPICFEATURE$, and mild facial dysmorphism, along with dysphagia, @DISEASE$, developmental arrest, and ataxia.	false
+8ab2f97fd25e15b19578e00e8f97425d349e4cd0	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: @PHENOTYPICFEATURE$, microcephaly, and mild facial dysmorphism, along with dysphagia, @DISEASE$, developmental arrest, and ataxia.	false
+157536fa397b7b28703b7d40212f617c60e87e87	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, @DISEASE$, developmental arrest, and @PHENOTYPICFEATURE$.	false
+6b2745eb0f6eec5f73a73a12c04a639366807e5d	@PHENOTYPICFEATURE$ may be a component of the brachydactyly @DISEASE$.	has_symptom
+290bab60d378027f5725dc225195ad906e2f74d0	@DISEASE$ may be a component of the @PHENOTYPICFEATURE$ C syndrome.	false
+67728171f5692b75134cd84ad47ca4bea86ba1fb	Short stature may be a component of the @PHENOTYPICFEATURE$ @DISEASE$.	false
+e8cd2633fe6874bcd99f777f932cd4b0e389e0e1	@PHENOTYPICFEATURE$, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (@DISEASE$) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	has_symptom
+54a5af209719c27675d3e66623b79ab370997409	@DISEASE$, retardation, adducted thumbs, spastic paraparesis, and @PHENOTYPICFEATURE$ (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	false
+073aed1bc73c0c1e903753ad1d134c9f6ae29716	Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and @PHENOTYPICFEATURE$ (@DISEASE$) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	false
+ea4b72049df9080adc815635c4b296e222568807	"Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (@DISEASE$) by short distal phalanx of the thumb, upper limb abnormalities and @PHENOTYPICFEATURE$, type III by cardiac conduction diseases and shortening of the middle phalanges.	has_symptom
+7a113e6c166e8ec63f60146bac6ee0e20f81e0a2	"Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (@DISEASE$) by short distal phalanx of the thumb, upper @PHENOTYPICFEATURE$ and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges.	false
+7560f581310068e012f25f24b3a3304cc4f98713	"Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper @PHENOTYPICFEATURE$ and @DISEASE$, type III by cardiac conduction diseases and shortening of the middle phalanges.	false
+168cfa751a91a35bc368e1221e93a7eb98ec79ce	"Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper @PHENOTYPICFEATURE$ and cardiac arrhythmias, type III by @DISEASE$ and shortening of the middle phalanges.	false
+b8d85cc8f1c2d0165a633d2d1468552f3b8b99f8	Arachidonic acid (AA) prevents neural tube/defects, cleft palate, and @PHENOTYPICFEATURE$ in the rat models of @DISEASE$ and neural tube defects in the mouse embryo culture model.	has_symptom
+114c3ea21220ab1051e4a2a96a8562b5b7704ca0	Arachidonic acid (AA) prevents neural tube/defects, @PHENOTYPICFEATURE$, and micrognathia in the rat models of @DISEASE$ and neural tube defects in the mouse embryo culture model.	false
+6016d53d10383fa3943c606f2d3a9417ac832921	Arachidonic acid (AA) prevents neural tube/defects, @PHENOTYPICFEATURE$, and @DISEASE$ in the rat models of diabetic embryopathy and neural tube defects in the mouse embryo culture model.	false
+b5ab0952abab76dcf67fff9e6bf6d45853ccc0c8	Arachidonic acid (AA) prevents neural tube/defects, @PHENOTYPICFEATURE$, and micrognathia in the rat models of diabetic embryopathy and @DISEASE$ in the mouse embryo culture model.	false
+585a4abe31f65e8ad433f2e5fe563d7f574b3c81	Only one case completely fit @DISEASE$ syndrome (cardiac defects, abnormal facies, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcaemia caused by22q11.2	has_symptom
+f46166c1cd865eb100911ff63fb91eb60a1efda3	Only one case completely fit @DISEASE$ syndrome (cardiac defects, abnormal facies, @PHENOTYPICFEATURE$, cleft palate, and hypocalcaemia caused by22q11.2	false
+757ec14f1df45f91f3e8c2cd9423eb93faace45b	Only one case completely fit CATCH-22 @DISEASE$ (cardiac defects, abnormal facies, @PHENOTYPICFEATURE$, cleft palate, and hypocalcaemia caused by22q11.2	false
+304003d564b6552b77388d3d78559e931771dbaf	Only one case completely fit CATCH-22 syndrome (cardiac defects, abnormal facies, @PHENOTYPICFEATURE$, @DISEASE$, and hypocalcaemia caused by22q11.2	false
+8ac46de353c4105cce0a3e032caac80e58924a10	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes including @PHENOTYPICFEATURE$, conotruncal heart defects, and facial dysmorphology.	has_symptom
+1b5296a19957968cdceec837602f219126ad1184	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and @DISEASE$ dysmorphology.	false
+c604effb76eb0c3c93b654a95bd0d1c15f2bc338	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+0fe0b18732a155d199f5b63f39ea0e99387d93e4	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+6c200e1a036baf4742e687baa9c88c0c6a60b54e	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including @DISEASE$, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+ad5460279fec8577bcbc72ce93a838e7866cd371	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+146fcfb8a9b46f90113e77a5edc9196b5b0d8e08	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes, including conotruncal heart defects, @PHENOTYPICFEATURE$, and facial dysmorphology.	has_symptom
+cad323fc66b359d8831f62fe77bbf65bf69c7d07	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+b64e4a3a0d017fdbfe3c6fe433a9c6df3bebd6bb	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, @DISEASE$, and facial dysmorphology.	false
+279f9cb8cb831a069559515359354190b709330f	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+908e1fef6b8239a42b5b3ec68b20b78c2f2ae259	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+7838618317b83840d3c38a1da016e37f54548aa0	Exclusion criteria included @PHENOTYPICFEATURE$, submucous cleft palate, all syndromic cases, and all associated malformations (except those related to 22q11 microdeletion in patients with @DISEASE$).	has_symptom
+b45b680028c2d2284fdeca87a7f70299b5a93214	Exclusion criteria included cleft palate, submucous @PHENOTYPICFEATURE$, all syndromic cases, and all associated malformations (except those related to 22q11 microdeletion in patients with @DISEASE$).	has_symptom
+3e0e39e5a624b7ccea996071ae7a44b84efad7c9	(@DISEASE$) region was studied among babies born in Norway with open @PHENOTYPICFEATURE$ without cleft lip (cleft palate only, CPO).	has_symptom
+1a5c6fc46603d0d5ab01ec8baf08c4e420a68041	(@DISEASE$) region was studied among babies born in Norway with open cleft palate without cleft lip (@PHENOTYPICFEATURE$ only, CPO).	has_symptom
+d3c42b483bcce96858786623b8df2af70cd351e3	Prevalence of duplications and deletions of the 22q11 @DISEASE$ region in a population-based sample of infants with @PHENOTYPICFEATURE$.	has_symptom
+f9e500cf67360e3bb48f34b85950f9ca26890320	The @DISEASE$ (22q11DS) may be associated with several palatal abnormalities, including overt @PHENOTYPICFEATURE$, submucosal cleft palate, palatopharyngeal disproportion, and velar hypotonia.	has_symptom
+f63511e1ff704b3285fabc506d8d8fe587a18d4d	Treatments can often correct many of the critical and immediate problems associated with @DISEASE$ such as heart defects, calcium defects, poor immune system functions and @PHENOTYPICFEATURE$.	has_symptom
+9452ad4892a3565391f9f394e9444d82d5d8799c	Treatments can often correct many of the critical and immediate problems associated with @DISEASE$ such as @PHENOTYPICFEATURE$, calcium defects, poor immune system functions and cleft palate.	false
+74c9532bf858a0e03424dfa977b4b52e18964bba	Treatments can often correct many of the critical and immediate problems associated with DiGeorge syndrome such as @PHENOTYPICFEATURE$, calcium defects, poor immune system functions and @DISEASE$.	false
+88c872093bef7938589a40689774863ba2afcf8c	Treatments can often correct many of the critical and immediate problems associated with DiGeorge syndrome such as @PHENOTYPICFEATURE$, @DISEASE$ defects, poor immune system functions and cleft palate.	false
+a40b5607296534a4418496141a198444eefe3697	@DISEASE$/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and @PHENOTYPICFEATURE$.	has_symptom
+5c2be7181c2331f7a313515bada4d2abb5e92d12	The @DISEASE$ (CTAF) comprises congenital heart disease and dysmorphic face, and is frequently associated with @PHENOTYPICFEATURE$ or hypernasality.	has_symptom
+f464f72ddeefb208ad68cbbeae5cc88dec800e32	@PHENOTYPICFEATURE$ versus contracture and @DISEASE$ versus central part myopathy in malignant hyperthermia.	has_symptom
+9ca2ebc44fe5ba73de10d8aeeea5bdb41eead2bf	Contraction versus @PHENOTYPICFEATURE$ and @DISEASE$ versus central part myopathy in malignant hyperthermia.	has_symptom
+412165eb40df3e3626d2c1093f452bf2a866938d	A 46-year-old woman afflicted with biochemically proven @DISEASE$ had only mild @PHENOTYPICFEATURE$ shortly before her death.	has_symptom
+67d8c21c2c018f5824e54f72e626e44e2bf2c5cb	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	has_symptom
+0169e8bacf4f699bc4a08157757d19352f11d1a8	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or @DISEASE$ respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+0de480223a4f4086b37d47b7d2339bf6decd24a0	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @DISEASE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+c6f7d2d6059432288e42b59485bd619a43af7a98	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or @DISEASE$ respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+163a76e792e637a2c376c93f9e77e7bd49830b39	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+f5a89e48672aaccaa737e8a955b99cafe674873f	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and @DISEASE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+0d1cf740e6049f570d6a4592bcf534256a028eba	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+8222526afcb3786c3032f9e05bac0fe1436baf0a	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+82d5476396330e8ad7094d980b4bf9d8a5f3e6d3	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+75fcecdecffdf6bcf27b6ef6d0b9779877b78763	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+0676dfd4d95ac10a5d183fb0bdac03aec3322a77	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+9c47821ea5eaa0b9f94535dcdeacd76b802e9b73	@PHENOTYPICFEATURE$ was more advanced than in previously reported cases of infantile-onset @DISEASE$.	has_symptom
+f01dfe5ccca17240d0feab35f709114364fe62cb	[@DISEASE$: Congenital @PHENOTYPICFEATURE$ of the index fingers, or COIF syndrome].	has_symptom
+17ee89c48c69b2a5e4072ec8637ef5b4cff8a47f	[Iso Kikuchi syndrome: Congenital @PHENOTYPICFEATURE$ of the index fingers, or @DISEASE$].	has_symptom
+64b83bc9c9b999c5ecde095f737175f349e5d921	A 37-year-old man under treatment for manic-depressive illness developed pneumonia identified as @DISEASE$ accompanied by a severe neurological disorder with profound dysarthria, @PHENOTYPICFEATURE$, gaze paralysis, and downbeat nystagmus.	has_symptom
+c0daacb5a90d660511d555d235ffeab86f6783b0	[@DISEASE$ asssociated with meningitis and @PHENOTYPICFEATURE$].	has_symptom
+3a8cf425f794ce3e845074b79e5279bf8fb54ca6	@DISEASE$: @PHENOTYPICFEATURE$, hypospadias, and polysyndactyly syndrome.	has_symptom
+eb12c76b1f928a3ad974aefdd1c70e5c33a497c6	Type 2 @DISEASE$ results in death in infancy, while type 3 disease causes variable neurologic manifestations ranging from minimal ocular effects to seizures, @PHENOTYPICFEATURE$, and cognitive regression.	has_symptom
+e612c422d4b664910f49bd6536085b141b9c496d	Type 2 Gaucher disease results in death in infancy, while type 3 disease causes variable neurologic manifestations ranging from minimal ocular effects to @PHENOTYPICFEATURE$, @DISEASE$, and cognitive regression.	false
+d2c6d7cd10110d088e225c4cc26c6f15b92e7f74	Type 2 @DISEASE$ results in death in infancy, while type 3 disease causes variable neurologic manifestations ranging from minimal ocular effects to @PHENOTYPICFEATURE$, ataxia, and cognitive regression.	false
+288482fa6e2879998a80cf63575f6caf03ba1ad0	Genetic defects in GBA2 result in spastic paraplegia and @PHENOTYPICFEATURE$, while cross-talk between GBA2 and GBA1 glucosylceramidases may affect @DISEASE$.	has_symptom
+627a937d36f0e3b0b4967ae60f340aad0ac45607	Sialidosis, with cherry-red spot, neuronopathic @DISEASE$, with paralysis of verticality, and ataxia-PME, with @PHENOTYPICFEATURE$ at onset in the middle of the first decade, are also lysosomal diseases.	has_symptom
+75cca6d6b62e4f13dc07e4191384b2552588aba5	Sialidosis, with cherry-red spot, neuronopathic @DISEASE$, with paralysis of verticality, and @PHENOTYPICFEATURE$-PME, with ataxia at onset in the middle of the first decade, are also lysosomal diseases.	has_symptom
+ee949cfd2161ec67286aef864d84aa43d1d4462a	Canine @DISEASE$ (CIPF) is a chronic, progressive, @PHENOTYPICFEATURE$ affecting mainly middle-aged and old West Highland white terriers.	has_symptom
+4ab271d897faec1011c1938f7913a931795a6eeb	Differentiating asbestosis from other forms of interstitial lung diseases, such as @DISEASE$, usual interstitial pneumonia, smoking-related lung disease, and mixed @PHENOTYPICFEATURE$, is important because the prognosis, course of disease, and management of the patient should be tailored based on the specific etiology of the disease.	has_symptom
+4a6e504c4c59c27f74d6925def4e0339f8b83fdb	Differentiating asbestosis from other forms of interstitial lung diseases, such as idiopathic pulmonary fibrosis, @DISEASE$, smoking-related lung disease, and mixed @PHENOTYPICFEATURE$, is important because the prognosis, course of disease, and management of the patient should be tailored based on the specific etiology of the disease.	has_symptom
+bd51f39e45ad2c373f29dfa7fec454065480638b	Congenital nonprogressive @PHENOTYPICFEATURE$ with M?bius and Robin sequence--the @DISEASE$: a confirmatory report.	has_symptom
+a86c881051baa6e1d09da9bd30556f0e788dd2e1	The delayed relaxation or sustained contraction of skeletal muscle-@PHENOTYPICFEATURE$-is frequently seen in @DISEASE$ and sodium channelopathies (hyperkalemic periodic paralysis, paramyotonia congenita).	has_symptom
+e5eb80337951542aff599284c57b5b06fb2847a1	@DISEASE$ is a common dominant disorder (global incidence of 1:8,000) with variable onset and a protean nature of symptoms mainly involving progressive muscle wasting, @PHENOTYPICFEATURE$ and cataracts.	has_symptom
+82d2ca76e040f4219aed220a2d889fb34d997979	Myotonic dystrophy is a common dominant disorder (global incidence of 1:8,000) with variable onset and a protean nature of symptoms mainly involving progressive @DISEASE$, myotonia and @PHENOTYPICFEATURE$.	false
+638ea9388ebae736ba0dc7552a92c9c58a8c9a87	Myotonic dystrophy is a common dominant disorder (global incidence of 1:8,000) with variable onset and a protean nature of symptoms mainly involving progressive muscle wasting, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+438eeef9d58dcb50435ee437618dabe9492a2feb	@DISEASE$ is a common dominant disorder (global incidence of 1:8,000) with variable onset and a protean nature of symptoms mainly involving progressive muscle wasting, myotonia and @PHENOTYPICFEATURE$.	false
+9baa982e959ae371f41c6da9b15d90b21e2e512a	@DISEASE$, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and @PHENOTYPICFEATURE$, which can affect both mother and child.	has_symptom
+0678ef3dfcaff3cfbbd6c81f6cbfa2c9cb96e36e	@DISEASE$, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	false
+8b5fdc31da8e665cef04310e11ec1709df1a2001	myotonic dystrophy, also called the Curschmann-@DISEASE$, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	false
+e266942f649696805d1663cc2f77d82518030e65	myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	false
+8ec3b2d3542f5d5b577a209302900c361a49f034	myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and @DISEASE$, which can affect both mother and child.	false
+f8c5eeb90636703c1c766be0a794e4de70e47c44	This study explored mental rotation (MR) performance in patients with @DISEASE$ 1 (DM1), an inherited neuromuscular disorder dominated by muscular symptoms, including muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+dafd982d478262478ab7a998a8c0bf91f38b5aab	This study explored mental rotation (MR) performance in patients with @DISEASE$ 1 (DM1), an inherited neuromuscular disorder dominated by muscular symptoms, including @PHENOTYPICFEATURE$ and myotonia.	false
+cda06a26288dbd2cf8fe9ee022e6053795e660c1	This study explored mental rotation (MR) performance in patients with myotonic dystrophy 1 (DM1), an inherited neuromuscular disorder dominated by muscular symptoms, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dae402a0df55db926eec717fc6a4d9e60ffe424c	@DISEASE$ (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+ccf6f103eb87afb63425c4b3a9b647e2436f702e	@DISEASE$ (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including @PHENOTYPICFEATURE$ and myotonia.	false
+d3732dbc59a493aab296c474fd2e834c07b4cea5	Myotonic dystrophy (DM) is an autosomal dominant, @DISEASE$ with a variable phenotypic expression including @PHENOTYPICFEATURE$ and myotonia.	false
+649b7339e71dfbab35da8afc037538e4d950488e	Myotonic dystrophy (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+168b6972620c9c89d92c9e17d90b228bb3f5b082	Two autosomal dominant myopathies begin in adulthood: Steinert's @DISEASE$ characterized by @PHENOTYPICFEATURE$ facial and distal weakness and atrophy, plurisystemic involvement and facio-scapulo-peroneal dystrophy with asymmetric facial and scapulo-humeral weakness.	has_symptom
+85a4b34b0b429a25d1a3618c44edd295b8efc14d	@DISEASE$ (DM) is an autosomal dominant neuromuscular disorder with defects in many tissues, including skeletal muscle @PHENOTYPICFEATURE$, progressive myopathy, and abnormalities in heart, brain, and endocrine systems.	has_symptom
+e69ddd8889820f235e78bef55b08a5590cf4ef70	A 56-year old female with @DISEASE$, admitted to hospital with a urinary tract infection, had widespread muscle atrophy and @PHENOTYPICFEATURE$ with bilateral cataracts.	has_symptom
+e6200dfdb98e3ac22a6980fd8f6ec4f381a19767	A 56-year old female with myotonic dystrophy, admitted to hospital with a urinary tract infection, had widespread @PHENOTYPICFEATURE$ and @DISEASE$ with bilateral cataracts.	false
+7b4e739f37d416fec6acd83cb00008b15cf7a149	A 56-year old female with @DISEASE$, admitted to hospital with a urinary tract infection, had widespread muscle atrophy and myotonia with bilateral @PHENOTYPICFEATURE$.	false
+5f798fcb9e9204a6f38ec48a675188608ca9e313	A 56-year old female with @DISEASE$, admitted to hospital with a urinary tract infection, had widespread @PHENOTYPICFEATURE$ and myotonia with bilateral cataracts.	false
+b419f449dd9a771ef5bab41ca0457e6743c6fa35	A 56-year old female with myotonic dystrophy, admitted to hospital with a urinary tract infection, had widespread muscle atrophy and @DISEASE$ with bilateral @PHENOTYPICFEATURE$.	false
+0fa8edb6e7be3a384ea067f0891ab16a4fb1e715	Dystrophia @PHENOTYPICFEATURE$ type 1 (DM1; Steinert's disease; @DISEASE$) is an autosomal dominant disorder due to a large CTG expansion in the 3'-untranslated region (UTR) of the DM protein kinase (DMPK) gene.	has_symptom
+033c268cc1c631663d4ea4f49926615c410b79f7	@DISEASE$ is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly progressive muscular dystrophy, muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+13513d1f4c1b7a286cb92b3bd37e61d2ebb2a2d0	Myotonic dystrophy is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly @DISEASE$, @PHENOTYPICFEATURE$ and myotonia.	false
+3b572357be718583ca6893a70a5f31d7b63364c9	Myotonic dystrophy is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly progressive muscular dystrophy, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6a82fc59955aefc9d13bb9fc15ad2b05f0ebb951	@DISEASE$ is an autosomal-dominant inherited neuromuscular disorder that's characterized by slowly progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia.	false
+8b538457bdabdc21e725ef6c90b4bbd02d947778	@DISEASE$ [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with @PHENOTYPICFEATURE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and digital anomalies.	has_symptom
+cf2ad27c5d8c636991262779b862b21a68ea2aa0	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+c05ba41d0123a30dadee4afcce4129ccf57089a9	@DISEASE$ [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+e1437e77d0ec6b3b97e0a08c809a81d8e1bf52da	Mohr syndrome [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with @DISEASE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+9df643607e8b289bb37f338324883e4023e2f714	Mohr syndrome [orofaciodigital (OFD) @DISEASE$ type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+46a5150cfd7f52ef0ebd2ecc2f8987bde6471584	RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn @DISEASE$ of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, @PHENOTYPICFEATURE$ (CHD), postaxial polydactyly, and 2-3 toe syndactyly.	has_symptom
+0c0d24983f7369f226fb473f744a1e8d55524f06	The inborn @DISEASE$ of methionine-homocysteine metabolism was also found in cases with recurrent early pregnancy loss, schisis, @PHENOTYPICFEATURE$, and vascular problems such as placental abruption, infarcts, and fetal growth retardation.	has_symptom
+feced636daf179fbc70346c4705e94f6423e8d78	The inborn @DISEASE$ of methionine-homocysteine metabolism was also found in cases with recurrent early pregnancy loss, schisis, @PHENOTYPICFEATURE$ and vascular problems like placental abruption, infarcts and fetal growth retardation.	has_symptom
+27f9b2185ed031c3bf05f335b6c65ef27e7034ea	Novel HARS2 missense variants identified in individuals with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+1cba371d215a001aee595b5236680040b33de57b	@DISEASE$ (PS) is a rare recessive disorder characterized by ovarian dysgenesis and @PHENOTYPICFEATURE$.	has_symptom
+3660b77c6ca8eefe620264e4f77717ab6f12b44f	Biallelic variants in HARS2 have been associated with @DISEASE$, characterized by @PHENOTYPICFEATURE$ and premature ovarian insufficiency.	has_symptom
+677f45ab5d2f9c8fdc12f2d63be3da02a4b95e50	Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and @PHENOTYPICFEATURE$ of @DISEASE$.	has_symptom
+67e0ef599434f1dcdc465222def7879302327064	@DISEASE$ (PS) comprises gonadal dysgenesis and @PHENOTYPICFEATURE$ in females, and deafness in affected males.	has_symptom
+885fd0a9894a9a1c221509f7015edbe8329ba87f	@DISEASE$ (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and @PHENOTYPICFEATURE$ in affected males.	false
+cc9d486cc398284e6a9ff10af3f44d554b236a41	Perrault syndrome (PS) comprises gonadal dysgenesis and @DISEASE$ in females, and @PHENOTYPICFEATURE$ in affected males.	false
+74b53e5f65a01f02c77ba05caaaa3026e695120f	We report on two Japanese sisters with @DISEASE$, i.e., autosomal recessive ovarian dysgenesis associated with @PHENOTYPICFEATURE$.	has_symptom
+eb89240bda1bd335fea83fa0059bb0d0e630f6c9	The hallmarks of @DISEASE$ are progressive @PHENOTYPICFEATURE$ and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous.	has_symptom
+09442c0acc5511a7a9ed5c2fb1f37ed4ccf7a15e	The @DISEASE$: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited @PHENOTYPICFEATURE$.	has_symptom
+e1d086e8d46293c0710c5e61edbf7c8294475be3	@DISEASE$ is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and @PHENOTYPICFEATURE$.	has_symptom
+e9be4721cb84f2afa1d0331dde57ade0d2a18446	@DISEASE$ represents a genetically heterogeneous disorder characterized by @PHENOTYPICFEATURE$ in males and females and ovarian dysfunction in females.	has_symptom
+e88bc66c1468fafebd5b2cd979902930ec5bb6c7	Less commonly, secondary syphilis may occur as acute meningitis, @PHENOTYPICFEATURE$, iritis, anterior uveitis, optic neuritis, Bell's palsy, gastropathy, proctitis, hepatitis, pulmonary infiltration, @DISEASE$, glomerulonephritis, periostitis, tenosynovitis and polyarthritis.	has_symptom
+1657aa9728b7060e2d0379469aa819839aa0864f	Children with different phenotypes of @DISEASE$ are at risk of @PHENOTYPICFEATURE$.	has_symptom
+135812276fbd7a6444f8ab30cd2c3e54ca760fd9	COQ6 mutations in human patients produce @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+ff26d5a09ef453ff22925afa493f8867ca53ee2e	The main clinical manifestations are infantile progressive @DISEASE$ (NS) leading to end-stage renal disease and @PHENOTYPICFEATURE$.	has_symptom
+f1a0dcde52c3a5599ec86adbcaacdfd1495ce7be	The identification of the responsible gene will provide new insights into the molecular basis of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+52539151739cac4391365c1eb465bd2e9e6567ab	To investigate the clinicoradiological manifestations of craniofacial @PHENOTYPICFEATURE$ in patients with @DISEASE$ (SCD).	has_symptom
+5144addaf23d672370a022e4f2c5b77bd14c1e5a	The disease presentation of @DISEASE$ (OMIM #263200, ARPKD) is highly variable and includes @PHENOTYPICFEATURE$, pulmonary hypoplasia, and congenital hepatic fibrosis.	has_symptom
+5cfa98d8fc05f77ec3d69389192120db984e2562	ROH causes were obstructive uropathy (n = 19), polycystic kidney disease [autosomal recessive polycystic kidney disease (@DISEASE$) n = 5 and autosomal dominant @PHENOTYPICFEATURE$ disease n = 1], renal agenesis/dysplasia (n = 10) and bilateral renal vein thrombosis (n = 1).	has_symptom
+3ca7b86a42da6af3b84ea5ce1a8b225eaf769da5	ROH causes were obstructive uropathy (n = 19), @DISEASE$ polycystic kidney disease (ARPKD) n = 5 and autosomal dominant @PHENOTYPICFEATURE$ disease n = 1], renal agenesis/dysplasia (n = 10) and bilateral renal vein thrombosis (n = 1).	has_symptom
+ba1ebccb7fc7830b32c570b561d0f02658c5747f	Given the difficulty of distinguishing among @PHENOTYPICFEATURE$, learning disabilities and OCD and the importance of precocious diagnosis in treating OCD especially since there are treatment methods interfering with anemia symptoms, physicians should adapt an adequate screening tool treating a child with @DISEASE$ and comorbid mental disorder.	has_symptom
+a7243c9fa9db44755d04dfe7ea59d17adbc99144	@DISEASE$ is characterized by short stature, @PHENOTYPICFEATURE$, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss.	has_symptom
+e295b6dec5feb2bd06cc40075dedeadd8f707676	Myhre syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss.	false
+2d502829ef178d62c0217a1c25482c63243ca7fd	Myhre syndrome is characterized by @PHENOTYPICFEATURE$, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and @DISEASE$.	false
+e4cfb82d38cfaffc232c55c6190299b806bc2022	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss.	false
+78b01112125afb1faecf159d8d33bc675411aa27	@DISEASE$ is a rare disorder characterized by pre- and postnatal short stature, @PHENOTYPICFEATURE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	has_symptom
+475f4e0518eff11d1feea18139f2a48f851255b4	Myhre syndrome is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+cd11e4b44728379c3e6067a6c707a57f4c1bebc2	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @PHENOTYPICFEATURE$, mixed hearing loss, and @DISEASE$.	false
+9f36f972d582211cde6ad74a1bb0922af8beeae4	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, @DISEASE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @PHENOTYPICFEATURE$, mixed hearing loss, and cleft lip and palate.	false
+2f97d42e8fedd82bcbe7d7182d66ef1041148e5b	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and @DISEASE$.	false
+0dfa3ece11063994df7ccca72e41770e56a04834	Myhre syndrome is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, @DISEASE$, and cleft lip and palate.	false
+2b5ec8a5d0d1c5224b45a78c007a1f2733f95cf9	@DISEASE$ is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @PHENOTYPICFEATURE$, mixed hearing loss, and cleft lip and palate.	false
+5d3e0856baf37cd4407ed380c4356b2b9df1569a	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, @DISEASE$, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+ad1b61675aea6f54266e7473b2642785530ec722	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @PHENOTYPICFEATURE$, @DISEASE$, and cleft lip and palate.	false
+7dfb109d8416eccf352c55354a872f8eb3ac94f3	@DISEASE$ is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+af2472d618b6f0739fe0128ae8f518eac5168d8f	Myhre syndrome is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and @DISEASE$.	false
+ebd6dd73ec355da74c2b4709a482221ce0a0a363	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, @DISEASE$, and cleft lip and palate.	false
+6b797576d7edf4649ae1ed3d636960e6c9eb321e	@DISEASE$ is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+31534d6858c8f3419ab260b880febc8c81b79e60	A 5-year-old Japanese boy (proband) came to our hospital because of @PHENOTYPICFEATURE$, reached the diagnosis of @DISEASE$ (MWS) due to a mutation in NLRP3 gene, which had not been reported so far (p.G328E, c.G983A).	has_symptom
+d2dd4a569ae3ce16971eaa44e2d8110be21e53a9	SCT patients treated surgically for @PHENOTYPICFEATURE$ and with intraocular lenses (IOLs) had a significantly lower MHR compared to other @DISEASE$ patients.	has_symptom
+663a44fa30d79d4706d043c8dfe382690eacbea9	Usher syndrome (@PHENOTYPICFEATURE$ and @DISEASE$):  pathogenesis, molecular diagnosis and therapeutic approaches.	has_symptom
+3fa623e5d8608779fd88f73348c9a994c4934929	The clinical reassessments revealed binaural profound @PHENOTYPICFEATURE$ (DFNB12) without @DISEASE$ in the proband.	has_symptom
+e64eb67b10a122082777a3c528bfacbcf4a18ecb	Usher syndrome (USH) is a rare disorder characterized by @DISEASE$ (RP) and @PHENOTYPICFEATURE$.	has_symptom
+da4337f5cfc11b0361d19c571bfdecc3e665363f	Usher syndrome is a rare disorder causing @DISEASE$, together with @PHENOTYPICFEATURE$.	has_symptom
+2dd7cfbe19b4c9d3553ee348fb223693f01712af	This type is characterized by @DISEASE$ and progressive @PHENOTYPICFEATURE$.	has_symptom
+ed672b170a3a098de96834b00cd545982b83e4d3	@PHENOTYPICFEATURE$ in patients with typical @DISEASE$.	has_symptom
+9c384b43bbf12e57d79da700e5b79ecbf33d609d	Schizophrenia and mental retardation associated in a pedigree with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+72796ed040b96c139261fa0e3cf4a0d1110feff0	@DISEASE$ and @PHENOTYPICFEATURE$ associated in a pedigree with retinitis pigmentosa and sensorineural deafness.	false
+83d1e999177aeb14e6aaa7e18f9f9c63be2589b8	Schizophrenia and @PHENOTYPICFEATURE$ associated in a pedigree with retinitis pigmentosa and @DISEASE$.	false
+c8eda7dbf0dfb39f2562263583d221468ceb78ef	Schizophrenia and @PHENOTYPICFEATURE$ associated in a pedigree with @DISEASE$ and sensorineural deafness.	false
+7e4a16a835540f6847cfac789dc5dc04dd372e2b	Usher syndrome denotes a clinically and genetically heterogeneous combination of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+5a04f904618e446d65c598654d64fe5629d499e0	Family ZMK is a large Irish kindred that segregates progressive @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+dad95735f29267a556df5398a6ea3c464b9b0042	@PHENOTYPICFEATURE$ is the most common disease associated with systemic @DISEASE$ (RP).	has_symptom
+35d18b15422d9206a55bf57a786b2337ba344b35	Charcot-Marie-Tooth disease (@DISEASE$) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral @PHENOTYPICFEATURE$.	has_symptom
+a8b19ec4d7ba2215e2e077f64a8102cb7e493373	@DISEASE$ (GHS) is a rare Mendelian neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and hypogonadism.	has_symptom
+3c257436a67642b844345f9d21a7e6bc2c32a256	@DISEASE$ (GDHS) is an adult-onset neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	has_symptom
+f86a4b7e33da331cc0270791698a8cbad204078d	Gordon Holmes syndrome (GDHS) is an adult-onset neurodegenerative disorder characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1f8ab773074bce7244f2c4902b9bab1161485ce6	@DISEASE$ (GDHS) is an adult-onset neurodegenerative disorder characterized by ataxia and @PHENOTYPICFEATURE$.	false
+07e4ce373f026419b028d970bb71e045c587c5fb	@DISEASE$ (GHS) is characterized by @PHENOTYPICFEATURE$/atrophy and normosmic hypogonadotropic hypogonadism (nHH).	has_symptom
+d4b4a93a3d8b0515188d79aca5c2abd5a9eb1019	Gordon Holmes syndrome (GHS) is characterized by @DISEASE$/atrophy and normosmic @PHENOTYPICFEATURE$ (nHH).	false
+447fee2b51b69350e739574997fe7d663d6991f0	@DISEASE$ (GHS) is characterized by cerebellar ataxia/atrophy and normosmic @PHENOTYPICFEATURE$ (nHH).	false
+a10c67fbd829b65d6ff62562e4a5b13601ea12bc	We describe a patient with @DISEASE$ presenting with a combination of hypogonadotropic hypogonadism, @PHENOTYPICFEATURE$ and progressive cognitive decline, with distinct MRI brain findings.	has_symptom
+018e296d84e6b1542671b8fcf8dc051d2351bb8e	We describe a patient with @DISEASE$ presenting with a combination of @PHENOTYPICFEATURE$, ataxia and progressive cognitive decline, with distinct MRI brain findings.	false
+e25b21190d2b1b7162214f1112022af3ef6135ea	We describe a patient with Gordon Holmes syndrome presenting with a combination of @PHENOTYPICFEATURE$, @DISEASE$ and progressive cognitive decline, with distinct MRI brain findings.	false
+306f441d3ed85aafb98d6f811bcd658570504575	Dysfunction of this link occurs in the rare genetic @PHENOTYPICFEATURE$ disorders--@DISEASE$ and Boucher-Neuhauser syndrome.	has_symptom
+506cf1a3ac3dcb2507c5b559235c042c0e2f2f8c	Mutations in human Rnf216 gene have been identified in @DISEASE$, which is defined by @PHENOTYPICFEATURE$, dementia, and hypogonadotropism.	has_symptom
+31526d471d4a6eb2b42e9d6389569c16c19cedbb	Although the co-occurrence of @PHENOTYPICFEATURE$ and hypogonadism has been recognized for close to 100 yr, cases of @DISEASE$ are quite rare.	has_symptom
+0dfdbe5dd81a61a02dd9b0bd9aac13cd83c1e9b3	The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as @DISEASE$ (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuh?user syndrome (BNS-@PHENOTYPICFEATURE$ with chorioretinal dystrophy).	has_symptom
+8f6e1ed341a1c2e975b81be5952a10d4fd54250f	The association of early-onset @PHENOTYPICFEATURE$ with hypogonadotropic hypogonadism is related to two syndromes, known as @DISEASE$ (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuh?user syndrome (BNS-ataxia with chorioretinal dystrophy).	has_symptom
+effdaf6c7ecc64806bf6122fa3f74a9f3d6f144a	The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as @DISEASE$ (GHS-@PHENOTYPICFEATURE$ and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuh?user syndrome (BNS-ataxia with chorioretinal dystrophy).	has_symptom
+d59ee113de4da195ec82c1ba4e9b8e3d7c5f84cc	Mutations in RNF216 have recently been found in families with @DISEASE$, a condition defined by hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$.	has_symptom
+024e28269fdc6f7fad761010a0f1a23d25b4141a	He also described the symptoms of inherited neurodegenerative spinocerebellar @PHENOTYPICFEATURE$ involving the olivary nucleus (@DISEASE$).	has_symptom
+eef2a6a84978f73a18c6c88c485740eea44a000b	Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+48201ae199c5184ea1bb1e5fcf8a346c2fe5eeaa	We report the observation of the child MC, 4-year-old, for whom the association of polyuria-polydipsia syndrome, a @PHENOTYPICFEATURE$, nephrolithiasis, hypercalciuria, and especially a high urine pH in the presence of metabolic acidosis did evoke diagnosis of @DISEASE$.	has_symptom
+92e12ef8edfb20a2c867d3f7a17032e73a199d19	We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of @DISEASE$, (persistent alkaline urine, hypercalciuria, hypocitraturia) and @PHENOTYPICFEATURE$.	has_symptom
+b45d10c4ca09cc1a0c21fc3a0118a2f05b3cf4c1	We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of @DISEASE$, (persistent alkaline urine, @PHENOTYPICFEATURE$, hypocitraturia) and failure to thrive.	false
+1f52531fd998c4ae0b92cff4fed4c8071ca8fdb2	We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis, (persistent alkaline urine, @PHENOTYPICFEATURE$, hypocitraturia) and @DISEASE$.	false
+45b3bfa0a494d17daa71c3fc040a658960515b47	The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial @DISEASE$ (dRTA), nephrocalcinosis, and @PHENOTYPICFEATURE$.	has_symptom
+bf18505cf83bba47054c0c83209e605d685d1a39	Naproxen, clenbuterol and insulin administration @DISEASE$ cancer @PHENOTYPICFEATURE$ and reduce tumor growth in Walker 256 tumor-bearing rats.	has_symptom
+1b3730f60de543e12bb820ae2c80a4b0a2327937	Naproxen, clenbuterol and insulin administration ameliorates cancer @DISEASE$ and reduce tumor growth in Walker 256 @PHENOTYPICFEATURE$-bearing rats.	false
+d7310faf51e593d60593cb3032c3c5b2a1694e7b	Naproxen, clenbuterol and insulin administration @DISEASE$ cancer cachexia and reduce tumor growth in Walker 256 @PHENOTYPICFEATURE$-bearing rats.	false
+b9ffb902ba1e1de0a0dad18a4eb485245ad127b5	Naproxen, clenbuterol and insulin administration ameliorates cancer @DISEASE$ and reduce @PHENOTYPICFEATURE$ growth in Walker 256 tumor-bearing rats.	false
+837523896ddacde4af49c1cd51443f6e08415bd6	Naproxen, clenbuterol and insulin administration ameliorates @DISEASE$ cachexia and reduce tumor growth in Walker 256 @PHENOTYPICFEATURE$-bearing rats.	false
+f91e0a4824e91527f324f33e931158d21e0f4924	Naproxen, clenbuterol and insulin administration @DISEASE$ cancer cachexia and reduce @PHENOTYPICFEATURE$ growth in Walker 256 tumor-bearing rats.	false
+e678e7fa7a414e367ebceda03f46babc4686a689	Naproxen, clenbuterol and insulin administration ameliorates @DISEASE$ cachexia and reduce @PHENOTYPICFEATURE$ growth in Walker 256 tumor-bearing rats.	false
+e71182908310a5421d4d871efe5a578702023702	There are several existing and emerging drugs with the potential to @DISEASE$ cancer @PHENOTYPICFEATURE$, but the most efficacious treatment will probably come from combined drug therapies.	has_symptom
+2d15d271d1da776442b007a97eed005bb7869678	@DISEASE$ presenting with profound @PHENOTYPICFEATURE$.	has_symptom
+3651a4b45a05454732829f0fe5968acb13e0a807	A patient with autopsy-proved @DISEASE$ developed @PHENOTYPICFEATURE$ requiring peritoneal dialysis.	has_symptom
+8415a451538c3192ba119646fff4cfe0e05763ae	Renal involvement mainly occurs in AA amyloidosis and @DISEASE$ and usually progresses to @PHENOTYPICFEATURE$.	has_symptom
+e91c4e45f3e461b793fc66c0224b74e47fd95b7f	Chronic peritoneal dialysis was used in a patient with @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+324c334ba74898f5c7b26f3bbdda38d0d7ed542e	@PHENOTYPICFEATURE$ is a common feature of @DISEASE$ and can considerably affect the concentration of FLC.	has_symptom
+f303c562077e91491c7ae73a0aed2c6d4776f424	[@DISEASE$ associated with multiple myeloma and @PHENOTYPICFEATURE$: case report].	has_symptom
+d87e5a425acd8323191669d649bedc84d89f07b6	Best use of cardiac biomarkers in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9c42b3e360b6631226a81f447aecf0959d1afb11	Chronic peritoneal dialysis in a patient with @DISEASE$, @PHENOTYPICFEATURE$, and factor X deficiency.	has_symptom
+6a842a9b0f277f0e42f5aeb6b8836b10067b1b54	@DISEASE$ has a poor prognosis, typically with cardiac or @PHENOTYPICFEATURE$ ensuing some months after diagnosis.	has_symptom
+afab334edf4d627a156fefc4ed4bd7cf78d38094	Four years later, she developed @DISEASE$ complicated by nephrotic syndrome and @PHENOTYPICFEATURE$.	has_symptom
+6c3e16c806ff0241d88c51512afd386f333f263a	Muscle biopsies from 7 patients with @DISEASE$ (SS) and a slowly progressive proximal @PHENOTYPICFEATURE$ were studied ultrastructurally.	has_symptom
+cb0c59f67c92107e768d041b786bf4cc0c976d27	Individuals with @DISEASE$ have muscle functions with varying degrees of @PHENOTYPICFEATURE$ and atrophy, which in turn can have a negative impact on functional and health-related quality of life.	has_symptom
+7f0469f38d140e0e8fdf3aa3c6190759b1ec6cc4	Three siblings of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+7fc1633789f3a45b72832bbdd81da36c14248dc6	The neuropathological examination confirmed PCH type 2 (according to Barth [Brain Dev., 15 (1993) 411-422]) with marked @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+778a3137c20a37486da175ca8fb1eccb3ade0c9f	A case of @DISEASE$ demonstrates cerebral hemispheric involvement, as well as and intraaxial and extraaxial brain stem involvement in a patient with symptoms of paraparesis, urinary incontinence, visual loss, @PHENOTYPICFEATURE$, vertigo, proptosis, and nystagmus.	has_symptom
+80553437870269aa2848bba30b8b15808dc7deee	A case of @DISEASE$ demonstrates cerebral hemispheric involvement, as well as and intraaxial and extraaxial brain stem involvement in a patient with symptoms of paraparesis, urinary incontinence, visual loss, ataxia, @PHENOTYPICFEATURE$, proptosis, and nystagmus.	false
+8557b8429274d0501be6257ecb6521788601617a	A case of Erdheim-Chester disease demonstrates cerebral hemispheric involvement, as well as and intraaxial and extraaxial brain stem involvement in a patient with symptoms of paraparesis, urinary incontinence, visual loss, @DISEASE$, @PHENOTYPICFEATURE$, proptosis, and nystagmus.	false
+8065a8b4772199436456bfc2b44d9564b2992eaa	A case of @DISEASE$ demonstrates cerebral hemispheric involvement, as well as and intraaxial and extraaxial brain stem involvement in a patient with symptoms of paraparesis, urinary incontinence, @PHENOTYPICFEATURE$, ataxia, vertigo, proptosis, and nystagmus.	false
+572eb15b4ec27158b4151376f1597b58a963ae32	A case of Erdheim-Chester disease demonstrates cerebral hemispheric involvement, as well as and intraaxial and extraaxial brain stem involvement in a patient with symptoms of paraparesis, urinary incontinence, @PHENOTYPICFEATURE$, @DISEASE$, vertigo, proptosis, and nystagmus.	false
+f535c0eeea939a28f94c839140dc86ea02421438	Late-onset sporadic @PHENOTYPICFEATURE$, pontine lesion, and retroperitoneal fibrosis: a case of @DISEASE$.	has_symptom
+4e63580ee26d06ae4bd31d5d43691c1427663057	A rare cause of late-onset @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+5701b3ec780635c39330847d6fcc331905476165	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	has_symptom
+fe997a6d515c8c896933925210aab2150537788a	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+7a6d5d218e5cf058ee68fcac902913f8953d824f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	false
+e4704070bfc4aa45f55b56aa1021d7045165a877	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+ecfb2e16cab1da5c0b78ca05dc7b924af335c6b8	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+6eb18adbb1bf6f3f34086ecb09b70e2eef4d327c	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, @DISEASE$, and movement disorder.	false
+febfd16d23a28d5f7479b8758b6fd628bd765c4f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+f73ba84e87ae6969be46e1437575c9b104b823c1	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	false
+ca280af49b429c118fdd21a2350d9f45f7e8d936	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a7f9cc17dd838a29b920cb9a0073d3270e49b3dc	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, @DISEASE$, and movement disorder.	false
+8adaffbbd7e301cefd16fd88231da2067d9b1766	(1) Renal involvement was the first manifestation in seven of ten (7/10) patients with pSS, including proteinuria, renal dysfunction, @DISEASE$ and multiple @PHENOTYPICFEATURE$; and two patient had intractable hypokalemia.	has_symptom
+5182989fbd703c107a33e71c74d005ad5c6fe610	The @DISEASE$ may result in meningitis, vasculitis with stroke, or @PHENOTYPICFEATURE$.	has_symptom
+17bc53743481f3e66328f15790463b1af7f8926a	The presence of optochiasmatic @DISEASE$ and @PHENOTYPICFEATURE$ was also a significant predictor of cranial neuropathy.	has_symptom
+2f9ca3b71323cffb6a37b9ed6ca430e0f75c1b1a	@DISEASE$ and @PHENOTYPICFEATURE$ in the surgical management of acoustic tumours; a plea for early operation.	has_symptom
+4438dacbf7ccb2fa85854da3dfb2b52b5262df78	@DISEASE$ and hydrocephalus in the surgical management of acoustic @PHENOTYPICFEATURE$; a plea for early operation.	false
+4776774400340d15f5b5ea11589f6afbd4de3420	Chronic arachnoiditis and @DISEASE$ in the surgical management of acoustic @PHENOTYPICFEATURE$; a plea for early operation.	false
+719c4b1de0dccbc2a658649a0cfa8348ab1de86b	The present case is exceptional because neither @PHENOTYPICFEATURE$ nor @DISEASE$ were present.	has_symptom
+8ea0a82afbdd2bbdc8c0e5d97fd680da3112e206	[A case of acoustic neurinoma with @DISEASE$ optochiasmatica and internal @PHENOTYPICFEATURE$].	has_symptom
+edd2e9a9a3e1a0caef2c27c27337f3462198b71b	At exploration, the mass was felt to be inflammatory in nature with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+699936901094dc9da1dab66e2e8340524636fc01	Intraspinal @DISEASE$ and @PHENOTYPICFEATURE$ after lumbar myelography using methylglucamine iocarmate.	has_symptom
+97ca5901ffe8d0eae7c594a5cbd913cb05e1c106	There is evidence also that @PHENOTYPICFEATURE$ due to @DISEASE$ is a rare occurrence.	has_symptom
+48dabeb3b6717568b8ddebf25d52d37a32709ca3	To our knowledge, the association between @PHENOTYPICFEATURE$ and postoperative spinal @DISEASE$ (SAA) has never been reported.	has_symptom
+b9c4c3e60d4016971b533f5f287e84f4ae600b2a	Chronic intracranial hypertension in the presence of @PHENOTYPICFEATURE$ and/or @DISEASE$ is a rare presentation of neurobrucellosis.	has_symptom
+966c6cfb833ec18c7ac361045f59a84b905eaf4f	@DISEASE$ (MCC) is a rare and aggressive @PHENOTYPICFEATURE$.	has_symptom
+e6cb9975a9e507fe1dc8ad862f690ae4c3351eac	Primary @PHENOTYPICFEATURE$, or @DISEASE$ (MCC), is a rare but aggressive tumor.	has_symptom
+c051c4449b4f7957f59da2be6c4ad0eed5ab86d6	Primary neuroendocrine carcinoma of the skin, or @DISEASE$ (MCC), is a rare but @PHENOTYPICFEATURE$ tumor.	false
+b1c2b5ac22d2a735f8f5ffb7270f69746605563b	Primary neuroendocrine carcinoma of the skin, or @DISEASE$ (MCC), is a rare but aggressive @PHENOTYPICFEATURE$.	false
+526cc97a368b80357c2d89c9ca8e8dd9ec877eda	Primary @DISEASE$, or Merkel Cell carcinoma (MCC), is a rare but aggressive @PHENOTYPICFEATURE$.	false
+5220f7c9fc37255d046d74e2df1b4b4b626eb9dc	Primary @DISEASE$, or Merkel Cell carcinoma (MCC), is a rare but @PHENOTYPICFEATURE$ tumor.	false
+8fd305b3f526db03516c350816ee768f01a38bf4	We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild @PHENOTYPICFEATURE$ and hypotonia diagnosed at birth as @DISEASE$.	has_symptom
+335bfba199382a44bb358a3ba1c6b89c2257bb63	We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe @PHENOTYPICFEATURE$, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as @DISEASE$.	false
+6898d22b20746e9a8196638a32c8b50b22841f9e	We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe @PHENOTYPICFEATURE$, high forehead with receded hairline, sparse scalp hair, beaked nose, mild @DISEASE$ and hypotonia diagnosed at birth as Seckel syndrome.	false
+4e03bf2067c3ee683a43a65065b2b89d09ff3237	@DISEASE$ is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, @PHENOTYPICFEATURE$, hypohidrosis, and multiple milia.	has_symptom
+a1acc195c601672a4f09496e51c219e2faa7d0ca	@DISEASE$ is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, hypotrichosis, @PHENOTYPICFEATURE$, and multiple milia.	false
+972515969529b3afa659d53c2713078198bd60f2	Bazex-Dupr?-Christol syndrome is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, @DISEASE$, @PHENOTYPICFEATURE$, and multiple milia.	false
+de81ed7a22e2481d1c00560fe3d2f71e1b82ce35	Bazex-Dupr?-Christol syndrome is a rare X-linked genodermatosis characterized by early-onset @DISEASE$, atrophoderma follicularis, hypotrichosis, @PHENOTYPICFEATURE$, and multiple milia.	false
+053ec7fa49c9cf2ef1048de6353546493511f5aa	A Scottish family with @DISEASE$: follicular atrophoderma, congenital @PHENOTYPICFEATURE$, and basal cell carcinoma.	has_symptom
+690cf2122c8a0067f9ae9855783034e7b72eddaf	The @DISEASE$ is characterized by follicular atrophoderma, congenital @PHENOTYPICFEATURE$, and basal cell neoformations that include basal cell carcinomas and basal cell nevi.	has_symptom
+ab577ea708ac02ea5ba32a69a484af2e343caf37	@DISEASE$ is a rare genodermatosis that manifests with the classical triad of basal cell carcinoma, follicular atrophoderma, and @PHENOTYPICFEATURE$; yet it may be accompanied by milia, ichthyosis, neurological symptoms, and visceral malignancies.	has_symptom
+58e80eedcae1c4d9d0968b303524011b5c2718bb	@DISEASE$ (BDCS) [OMIM 301845] is an X-linked dominant disorder of the hair follicle characterized by multiple basal cell carcinomas, follicular atrophoderma, congenital @PHENOTYPICFEATURE$, and hypohidrosis.	has_symptom
+3980237407ed9ad5957ee3831ca0f0d4264e8a0d	Concomitant @PHENOTYPICFEATURE$, milia, basocellular carcinomas and follicular atrophodermia define the @DISEASE$.	has_symptom
+4b04a1046d761014b03d4ed5fa4822ea9c69a28c	@DISEASE$ (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, multiple basal cell carcinomas, @PHENOTYPICFEATURE$, milia, and localised hypohidrosis.	has_symptom
+57e0ed6ffc39429feb409ffd76741ea072004a5c	[Congenital @PHENOTYPICFEATURE$ and milia with spontaneous regression during adolescence or Oley syndrome: a variant of @DISEASE$].	has_symptom
+bd3420651d560346724748021eaa943198610630	@DISEASE$ is a rare genodermatosis with cancer predisposition, characterized by follicular atrophoderma, multiple milia, congenital @PHENOTYPICFEATURE$, hypohidrosis and basal cell malformations that include nevoid basal cell carcinomas of early onset.	has_symptom
+b9e74882588add7a40a127d0ef42006d7bfa13b5	Recently, enlargement of the vestibular aqueducts as the sole radiographically detectable inner @PHENOTYPICFEATURE$ has been recognized as a distinct pattern of congenital inner @DISEASE$.	has_symptom
+0aeb57d097bcc2d29ea7968f9f3d20882707e7c0	In addition, deregulated MuSC activity in the absence of Fmr1 may have implications for @DISEASE$, which is associated with @PHENOTYPICFEATURE$ during infancy.	has_symptom
+7a24b8e5b41b401f02b6119baf962b75758109ee	Woodhouse-Sakati Syndrome (@DISEASE$) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, @PHENOTYPICFEATURE$, deafness, diabetes mellitus and progressive extrapyramidal defects.	has_symptom
+b371846ea4643b2b493a08301a387bd3b59adf6a	Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, @DISEASE$, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+13e274b80bc478ed51248db0f78db98c8d45e60c	Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive @DISEASE$ that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+68d533434818187f16768bf89cff6764277a6d91	@DISEASE$ (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+f1c994f69634d8a4a24f874e699a4efcdd96b36f	Woodhouse-Sakati Syndrome (@DISEASE$) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+674985dbbf7d1aae9bf4bcd87259e99246ba029b	Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$ and progressive extrapyramidal defects.	false
+87eec1faa517e61281283a760728178a3a1580af	Hypogonadism, alopecia, diabetes mellitus, @PHENOTYPICFEATURE$, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (@DISEASE$)] is a rare autosomal recessive neuroendocrine and ectodermal disorder.	has_symptom
+3a47ce881f8da33a29be12b415bf30d5dddec4b5	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	has_symptom
+ac5c7b9318774cc5812c4aeb7384ac6ac53a850c	@DISEASE$ (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects.	false
+b122a88a5ba6cf375f439526d5213b5b8a0ef92e	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, @DISEASE$, diabetes mellitus and progressive extrapyramidal defects.	false
+1ccb5ca44e5f9c13b151c8259f867ae64ed824e2	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, @DISEASE$ and progressive extrapyramidal defects.	false
+3e4fe4a88bb52d200c914c79f3864083688b60e0	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects.	false
+449b199f7220e41d267a256cb2e07438ff420392	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), @PHENOTYPICFEATURE$ and extrapyramidal signs, not described previously in Israel.	has_symptom
+88988c0f9a95bb3078090acf940b2fc068446846	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @PHENOTYPICFEATURE$, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels.	has_symptom
+d50b661a9f7fe2d43c04448de920a8aaa2e71096	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+e95b6cdcfcd9a8f3786e8c48d192f7d0abc0d2b8	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, @DISEASE$, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+329e1aa272cdddd9c093a0746b5a97441e1331fc	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+5c394822e5a860bdc16f6ef3d6d12e4134d95652	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+89b1eada1d43db6fc03a20d9c43c6933bf477f52	@DISEASE$ (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+80a852b96a286a006acca5e58777fa0aa82bf082	Woodhouse-Sakati syndrome (@DISEASE$) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, @PHENOTYPICFEATURE$, hypogonadism, alopecia, and diabetes mellitus.	has_symptom
+67c2592bdfc44e1a9ce9dc6dfb0ab69e08ac4560	We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (@DISEASE$).	has_symptom
+a44ca3a9947f6e6573f745b72ce8891fb817db7c	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (@DISEASE$).	false
+0e4c7f258f3af64c001586fdfdc1bb42737878e7	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, @DISEASE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+32a04c2264e879e8192e0240fc552c3c06237832	We identified a cohort of six individuals with @DISEASE$ cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+5a47695eca6bd13d0b5625daab5a2f5b061ddb25	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of @DISEASE$ (WSS).	false
+2e95829e27d477462a4a79813a583ba15f033973	Therefore, @DISEASE$ is an important consideration in patients presenting with movement disorders and @PHENOTYPICFEATURE$.	has_symptom
+1ca2bb35d10ea3bd55a0864199ff00fce4e4be69	Therefore, @DISEASE$ is an important consideration in patients presenting with @PHENOTYPICFEATURE$ and intellectual disability.	false
+bde3aee3f142c8ee76b92278393bf617f36e8721	Therefore, WSS is an important consideration in patients presenting with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+973c29f327d703be35151e8c94007d742de11f05	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	has_symptom
+e86ca60ea85fe9ef82a1febb8f6aa73d25edbb08	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	false
+422c572f23fa929566412687759e0acffc723405	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+8ec005185736aa9b9380d2a1c4734189ee75e573	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, and facial dysmorphism.	false
+c239ee02d2e9a946232ad48d849600ed59dfc43c	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+f047b5100ac4590bfe612c13756278eeb3b843d1	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	false
+efa6f7a871eaf3f7a382a3ce0f8c07bd8ad4f456	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+c3b7e6f944bb5a9789ebc70d1594b71b2c856211	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	false
+d92378fbac8e8180a24ffcc840c05f5d4a16922c	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+fcc567b7b6753e6e559c97f85bbd4f9bb7d6fbce	Our patients also have symptoms of the @DISEASE$ (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, @PHENOTYPICFEATURE$ and an old appearance.	has_symptom
+9a497e0ae06336b9db8899f6f675cbdbda39c715	Our patients also have symptoms of the wrinkly skin syndrome (@DISEASE$), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, @PHENOTYPICFEATURE$ and an old appearance.	has_symptom
+41a203a08c2d6484ce37cd1fe8367de5a6a58d1c	Our patients also have symptoms of the @DISEASE$ (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, @PHENOTYPICFEATURE$, mental retardation and an old appearance.	false
+014341581525f203a2ebe6effae1df5929269831	Our patients also have symptoms of the wrinkly skin syndrome (@DISEASE$), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, @PHENOTYPICFEATURE$, mental retardation and an old appearance.	false
+253546bd3face6af3b02a71d89bbf9e3568a42d4	Our patients also have symptoms of the wrinkly skin syndrome (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, @PHENOTYPICFEATURE$, @DISEASE$ and an old appearance.	false
+b364d13f64aec5395ef10bbca1d7e57d4c8705cd	@DISEASE$, a metabolic disorder of heme biosynthesis, is characterized by @PHENOTYPICFEATURE$, facial hypertrichosis, dark urine, and a distinctive pattern of excess porphyrin production.	has_symptom
+aed41e462a815cdf83422955ab3362eecd8b57d2	Studies comparing clinical and MRI features of foot and leg @PHENOTYPICFEATURE$ in @DISEASE$ (CMT-1A) duplication are lacking.	has_symptom
+e46d9d6a99a9f74b6117df955b9ae8f79a8ea01c	Some @DISEASE$ patients also have cerebral ventriculomegaly or @PHENOTYPICFEATURE$.	has_symptom
+218c2cd24ff0a7802fd62a292b471294d20bc64d	Some PCD patients also have cerebral @PHENOTYPICFEATURE$ or @DISEASE$.	false
+e8fc0b29e8bb12ba9fda947f7fef8739a45598e4	Some @DISEASE$ patients also have cerebral @PHENOTYPICFEATURE$ or hydrocephalus.	false
+e8c98f5f624ec4d81b9b878fdb848920a9990f3c	Homozygous mice have @DISEASE$ characterized by @PHENOTYPICFEATURE$, male infertility, and mucus accumulation.	has_symptom
+6588561d72f055d9bcd326c3b5fb6372146a6ec9	These results suggest that genetic modifiers play an important role in susceptibility to severe @DISEASE$-associated @PHENOTYPICFEATURE$.	has_symptom
+8ba2ac0ac13d963ea671254ae1e8de15c605b037	@DISEASE$ and @PHENOTYPICFEATURE$ with aqueductal stenosis.	has_symptom
+cc37a9fdd573ca5bc15bcbdcead9b37eb33b1f13	Loss of function of axonemal dynein Mdnah5 causes @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+db04734b282cf1269c7b7555cd3022be46f5e0fa	Mutant mice lacking Lrrc6 show typical @DISEASE$ defects such as @PHENOTYPICFEATURE$ and laterality defects.	has_symptom
+21ec83bb65a2440ce8bef3fc51d99e5f95f72869	leads to @PHENOTYPICFEATURE$ in a mouse model of @DISEASE$.	has_symptom
+a0ab8e20718ea8fec720fa8c75c09ea94774e80d	Primary ciliary dyskinesia (@DISEASE$) results from ciliary dysfunction and is commonly characterized by sinusitis, male infertility, @PHENOTYPICFEATURE$, and situs inversus.	has_symptom
+a3c55bcde8b099264aa9823749a15bc4aac6c821	@DISEASE$ (PCD) results from ciliary dysfunction and is commonly characterized by sinusitis, male infertility, @PHENOTYPICFEATURE$, and situs inversus.	has_symptom
+7714f97a7ec2c1bde6ed08cde53c906e273cc0e1	Primary ciliary dyskinesia (@DISEASE$) with associated bronchopneumonia, bronchiectasis, and @PHENOTYPICFEATURE$ in a dog.	has_symptom
+7b3b4aca0c3a32cfbf8dd58e80ff6fd5eea7750d	Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with @PHENOTYPICFEATURE$ and the syndrome of @DISEASE$.	has_symptom
+be294c139738d0ddc2ffe0eaa21a7803785fb00a	Several animal models of this disorder implicate abnormal ciliary function in the genesis of @PHENOTYPICFEATURE$, and 11 patients were previously reported with hydrocephalus and the syndrome of @DISEASE$.	has_symptom
+6429ba8fe1761a277dffbc8a087fd7b3deaa084b	Paroxysmal exercise-induced dyskinesia (@DISEASE$) is characterized by recurrent episodes of @PHENOTYPICFEATURE$ disorders usually precipitated by sustained walking or running.	has_symptom
+604602419184fe7419baa74b7b00c8d5d9304004	@DISEASE$, is a recently identified autosomal dominant disorder caused by loss of function mutations in the SPRED1 gene, with individuals mainly presenting with multiple caf?-au-lait macules (CALM), freckling and @PHENOTYPICFEATURE$.	has_symptom
+01cf01c7d909ee4b6aaa952e0a1bc944445255b8	Autosomal dominant disorder @DISEASE$ (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, @PHENOTYPICFEATURE$ and learning disability.	has_symptom
+a223475056a148883f73ad8cf989baecd448007c	Autosomal dominant disorder Legius syndrome (@DISEASE$) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, @PHENOTYPICFEATURE$ and learning disability.	has_symptom
+d3ce2373b4ae906d7a34bc63372c28a0ce7e3b78	Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as @DISEASE$, which consists of symptoms of multiple caf?-au-lait macules, axillary freckling, learning disabilities, and @PHENOTYPICFEATURE$.	has_symptom
+4cb950d10360317dcd061f424cf3e13d65bce233	Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or @DISEASE$, consisted of multiple caf?-au-lait macules, axillary freckling, learning disabilities and @PHENOTYPICFEATURE$.	has_symptom
+3264ec03ef9889a7e1b337a6ca94d3d42042244e	Because these new findings have important clinical implications, we suggest that clinicians caring for individuals with @DISEASE$ offer brain imaging, growth hormone testing, and @PHENOTYPICFEATURE$ screening.	has_symptom
+7e9339d0114d736122dd6c60e3b978dfe478dde5	@DISEASE$ (MRD21) is a very rare condition, characterized by short stature, @PHENOTYPICFEATURE$, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.	has_symptom
+db9df766f2b24ca30aa21beecea57d5fe2ccf120	Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by @PHENOTYPICFEATURE$, @DISEASE$, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.	false
+54678083c2acb77b3574f9bb49b18ad9de0e621e	@DISEASE$ (MRD21) is a very rare condition, characterized by @PHENOTYPICFEATURE$, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe.	false
+8ea0d63261d6b0862c0011808de7e121676ec065	Muenke-type craniosynostosis is defined as fibroblast growth factor receptor 3 (FGFR3)-associated coronal @DISEASE$ with or without @PHENOTYPICFEATURE$.	has_symptom
+e69c39db99c11bf23c458b25feed9d6906a4b360	Muenke-type @DISEASE$ is defined as fibroblast growth factor receptor 3 (FGFR3)-associated coronal craniosynostosis with or without @PHENOTYPICFEATURE$.	has_symptom
+f426291103e4ca7cfc67fa5cac6a7474496c699c	@DISEASE$ and marfanoid habitus without @PHENOTYPICFEATURE$: report of a third case.	has_symptom
+74925466f699182c30fdb8a1871c5d91be53743a	A new @DISEASE$/@PHENOTYPICFEATURE$ syndrome diagnosed by fetoscopy.	has_symptom
+54df2f83c38fefc884d9b774481dfc1b67497521	Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+86d6770e6e4e7528f6dc15fb4bbe59b8d5ccf504	Sutural exostoses, rib hyperostoses, @DISEASE$, @PHENOTYPICFEATURE$ with focal fat deposition: Proteus syndrome?	has_symptom
+e12a8d675cd625cf51270cbad26a86d7765cd4be	Sutural exostoses, rib @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$ with focal fat deposition: Proteus syndrome?	false
+2e1b6e337fb2a3e124582e99e409f072fb4fc229	Sutural exostoses, rib @PHENOTYPICFEATURE$, @DISEASE$, mental retardation with focal fat deposition: Proteus syndrome?	false
+4a63a03657ea90ebb578271b8818faabdfeba5fb	Sutural exostoses, rib @PHENOTYPICFEATURE$, craniosynostosis, mental retardation with focal fat deposition: @DISEASE$?	false
+aa82ce43e433df02688cf012900315fd76a090cc	FBN1, TGFBR1, and the Marfan-@DISEASE$/@PHENOTYPICFEATURE$ disorders revisited.	has_symptom
+1fdfec78f260ab18eb73f75c148ff317141ee360	[Spondylo-epiphyseal dysplasia associated with @DISEASE$, cleft palate and @PHENOTYPICFEATURE$.	has_symptom
+7371f5bc4944d4f78908513190feb59fea5ae261	[Spondylo-epiphyseal dysplasia associated with craniosynostosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8d81f8c572f6d79d66996a7d4446dbfb0eb7db7c	[Spondylo-epiphyseal dysplasia associated with @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+3d811b8a4cbec405efd1b045bc50ed898a6acad7	Less common clinical features include ocular anomalies, @DISEASE$, mild @PHENOTYPICFEATURE$, and choanal atresia.	has_symptom
+11e6d27a48a51e98c3378047869c8c3167ec5c6c	We report on a patient affected by @PHENOTYPICFEATURE$, @DISEASE$, and microcephaly.	has_symptom
+3bce182a107e9e0a82bacbdb64fc6e671f987118	We report on a patient affected by intellectual disability, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+99e0a19d5869418a14e5b3c0c222fcc135ec7ad4	We report on a patient affected by @DISEASE$, craniosynostosis, and @PHENOTYPICFEATURE$.	false
+641c12fe80d8d3c229d24fdc37c390c6deac23bd	@DISEASE$, Scheuermann's disease, and @PHENOTYPICFEATURE$ resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report.	has_symptom
+666c98268dcc305460366a7f51328a1b764855c9	The @DISEASE$ (PBD) are characterized by neural, hepatic, and renal deficiencies, @PHENOTYPICFEATURE$, and are often lethal.	has_symptom
+2870652b3437f3f4befe8f15f7ec08e95ad86ac7	The @DISEASE$ (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities; @PHENOTYPICFEATURE$; and, in their most severe form, death within the 1st year of life.	has_symptom
+8989da0dda7bd1e3abc3c4de161ee8b9006a9307	[Syndrome associating: osteopetrosis, tubular acidosis, @PHENOTYPICFEATURE$ and cerebral calcifications due to @DISEASE$.	has_symptom
+1177a559fcad5d027dee4e415dfaf73cf248d9e4	[Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+19df24ee0808ee80a12ce631bf0c0af8c2d760dd	[Syndrome associating: osteopetrosis, tubular acidosis, @DISEASE$ and @PHENOTYPICFEATURE$ due to carbonic anhydrase II deficiency.	false
+7e6a802190bc28647b75332c2d294ab2934d9e01	Mutations in CA II in humans lead to @DISEASE$ and cerebral calcifications, a disorder often associated with @PHENOTYPICFEATURE$.	has_symptom
+9bb29952e12f8f0eb51d53b3e81d466dde94eae0	Mutations in CA II in humans lead to @DISEASE$ and @PHENOTYPICFEATURE$, a disorder often associated with mental retardation.	false
+1297000d2151242c65efc921e2ade418155e60a7	Mutations in CA II in humans lead to osteopetrosis with renal tubular acidosis and @PHENOTYPICFEATURE$, a disorder often associated with @DISEASE$.	false
+c841cf35a1be50a3d61ebdaaddecb4b8f794bf13	In two of these patients showing exercise intolerance, decreased oxidation of NAD(+)-linked substrates and apparently normal mitochondrial DNA, further study revealed @DISEASE$ in a girl with @PHENOTYPICFEATURE$ and a high Km of complex I for NADH in a man.	has_symptom
+9373728c78908ee398beadf9794c4e5e1e5499bf	Among the 34 patients evaluated, @DISEASE$ (XLA) (29.4%) and common variable immunodeficiency diseases (CVIDs) (29.4%) were the most common disorders presented with respiratory and @PHENOTYPICFEATURE$.	has_symptom
+e42404f2b72f913c731b1409d782e9a87f84b99f	Pseudomonas aeruginosa severe @PHENOTYPICFEATURE$ in a toddler with @DISEASE$ due to a novel BTK mutation.	has_symptom
+8fa316962fdfedb81312c6557ab631f842ebb193	@DISEASE$ (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and @PHENOTYPICFEATURE$.	has_symptom
+596ece2b5f69a00c9e464f3e7eb3380613a79a45	Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c4409bb7fdde598e9fa06e2ef35f76647b90b689	@DISEASE$ (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including @PHENOTYPICFEATURE$ and macrocephaly.	false
+fa770184beb31ed9dfe8a9710235abbd4f2db5ca	Greig cephalopolysyndactyly (@DISEASE$) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, @PHENOTYPICFEATURE$ and hypertelorism.	has_symptom
+6f05f9f35ee53c530fe6be50fbd7a6d1b237a443	Greig cephalopolysyndactyly (GCPS) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4ad258ca70a6d39884485d5e33fea370dbae4e4c	Greig cephalopolysyndactyly (GCPS) @DISEASE$ is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, macrocephaly and @PHENOTYPICFEATURE$.	false
+f274833eddea1a02e10359bd449d3a58dbf07c11	Greig cephalopolysyndactyly (@DISEASE$) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, macrocephaly and @PHENOTYPICFEATURE$.	false
+0be2885cf74817181f53f633361d78326491803d	Thus, this boy combined the syndactyly-@PHENOTYPICFEATURE$ phenotype of @DISEASE$ with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen.	has_symptom
+f1232916d94454186ffc241baadd7ee8703b152f	Thus, this boy combined the @PHENOTYPICFEATURE$-macrocephaly phenotype of Greig cephalosyndactyly syndrome with a severe form of @DISEASE$ caused by the structural defect in type II collagen.	false
+aace31e0ad7cf6040e314e72f2d96c849afcd9d0	Thus, this boy combined the @PHENOTYPICFEATURE$-@DISEASE$ phenotype of Greig cephalosyndactyly syndrome with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen.	false
+809516a444f44b77d54237234d6df7da64dc513d	Thus, this boy combined the @PHENOTYPICFEATURE$-macrocephaly phenotype of @DISEASE$ with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen.	false
+21b5899170c25566396cbba8b6840c78974047b8	@DISEASE$ is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), @PHENOTYPICFEATURE$, and ocular hypertelorism.	has_symptom
+a9d0d64a152934bface38443da9ba7ecb3e838dd	Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), @DISEASE$, and @PHENOTYPICFEATURE$.	false
+dad89e925a91cf09e92ba9a3d6067d4610d835f2	Greig cephalopolysyndactyly syndrome is a rare multiple @DISEASE$ syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and @PHENOTYPICFEATURE$.	false
+ae13a77003c23019f43fd6c86c59379ce47a9019	Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly @DISEASE$ characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and @PHENOTYPICFEATURE$.	false
+44dfcc48d2b286d927f2c549c9d9ae7b40c2e288	@DISEASE$ is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and @PHENOTYPICFEATURE$.	false
+895dc82e37eea875dfe85937b6d6c646ee0f757f	@DISEASE$ is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, @PHENOTYPICFEATURE$ and hypertelorism.	has_symptom
+89c08f6213f457f84e960e44cb7190a23e4ab8e6	@DISEASE$ is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and @PHENOTYPICFEATURE$.	false
+67875710f5e4bb2f6374d3fc7d052687c8ffa226	Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f98d173df6039f6dbb035c87d7c5772c9f4f40a1	Greig cephalopolysyndactyly syndrome is a rare @DISEASE$, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and @PHENOTYPICFEATURE$.	false
+101da16fd2e08ae039f4919de423d3cd8a56e0f6	The @DISEASE$ in characterized by a set of craniofacial defects (@PHENOTYPICFEATURE$, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes.	has_symptom
+b1f34e40cb198fb360223ff7a098c1bb636fb192	The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (@DISEASE$, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and @PHENOTYPICFEATURE$ of fingers and toes.	false
+21a3d01dd8e9b9067f9015df845a00be89bdb097	The @DISEASE$ in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and @PHENOTYPICFEATURE$ of fingers and toes.	false
+bc4c5f25d5bcdb940ecd9993cf8c5ff66da9bb98	Heterozygous @DISEASE$ (OPA1) mutations are responsible for dominant @PHENOTYPICFEATURE$, and the down regulation of OPA1 expression in patients with Leber hereditary optic neuropathy may imply that Opa1 protein levels in mitochondria play a role in other spontaneous optic neuropathies as well.	has_symptom
+ede90fb5f89f6fbfa415226679d8762250667ed2	@DISEASE$ (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, @PHENOTYPICFEATURE$, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	has_symptom
+dc2f807627268e266fc609e03a444e8022777cc8	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by @PHENOTYPICFEATURE$, @DISEASE$, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	false
+9a619073ae8927f5696dbcc675c2e6e583029dae	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by @PHENOTYPICFEATURE$, short stature, rickets and/or @DISEASE$, and secondary absorptive hypercalciuria.	false
+54b673cb5d67e99885b0738114b5d2cc80613ab0	@DISEASE$ (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by @PHENOTYPICFEATURE$, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	false
+2ff86fc8cd237e807b87018399f71db9a7958206	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare @DISEASE$ inherited in an autosomal recessive fashion and characterized by @PHENOTYPICFEATURE$, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	false
+63c81e3668a0d96e38821f6f9af452179af44411	@DISEASE$ (HHRH) is a rare autosomal recessively inherited disorder, characterized by hypophosphatemia, @PHENOTYPICFEATURE$, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	has_symptom
+9331934b5bb8fc63c5a193380c975822fdc658cf	We report on seven patients affected with @DISEASE$, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, @PHENOTYPICFEATURE$, and joint laxity.	has_symptom
+363a11fae4d06e805d66b513cd355563f685d8b9	@DISEASE$ in adolescence with severe @PHENOTYPICFEATURE$ and nephrocalcinosis.	has_symptom
+bf3a11665047b8dfd02de16b6994a698818fef90	Incomplete @DISEASE$ (idRTA) has recently been associated with osteoporosis and @PHENOTYPICFEATURE$, attributed to the mild persistent metabolic acidosis.	has_symptom
+1c9e7daadd5606011d2618477dba5d7c77cfd923	@DISEASE$, hypokalemic paralysis, nephrocalcinosis, primary hypothyroidism, @PHENOTYPICFEATURE$, osteomalacia and osteoporosis leading to pathological fracture: a case report.	has_symptom
+22fa2161c132f2efe123855347c6486110211228	The case reported here has features of @DISEASE$ (dRTA), hypokalemic paralysis, primary hypothyroidism, @PHENOTYPICFEATURE$, osteomalacia and osteopenia leading to stress fracture.	has_symptom
+bc15f163aea40a38164f55e7037b41372e011a13	@DISEASE$-a @PHENOTYPICFEATURE$ with challenging airway and other anesthetic concerns.	has_symptom
+100644e77d8cc73bcec387044bbed9c6932e9812	@DISEASE$ is a rare @PHENOTYPICFEATURE$ caused by a mutation in the VDRL4 gene.	has_symptom
+a99b79b15db59827b2b161a711fd14c18ffe0a84	We provide centralized care to patients with @PHENOTYPICFEATURE$ at our tertiary care pediatric hospital, and we were able to collect the largest number of @DISEASE$ patients reported to date.	has_symptom
+7b923b870cb8d3953f1334f18253d1d0860325fb	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail.	has_symptom
+d259269b17547cf2669beca930fec1bc1619b4dd	@DISEASE$ (MD), is a rare @PHENOTYPICFEATURE$ occurring predominantly in infants characterized by a distinctive long torso and short limbs; it is as a result of mutations in the TRPV4 gene.	has_symptom
+7f0f0bd8d80d4e2c6f851f4e6accc0577106edaf	@DISEASE$ (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and @PHENOTYPICFEATURE$; it is as a result of mutations in the TRPV4 gene.	false
+e59167eb013071f5f53580634a324f015380d8c9	Metatropic dysplasia (MD), is a rare @DISEASE$ occurring predominantly in infants characterized by a distinctive long torso and @PHENOTYPICFEATURE$; it is as a result of mutations in the TRPV4 gene.	false
+e8509814c4c9efaaede0967b129d4d361352b486	@DISEASE$ accounts for approximately 5% of cases recorded by the International @PHENOTYPICFEATURE$ Registry, with a single recorded lethal case.	has_symptom
+1b46fff3334e89f9bfbf345cc9cc0478373aa601	@DISEASE$ is a rare form of @PHENOTYPICFEATURE$ requiring multiple anesthetics for surgical and imaging procedures, most of which are orthopedic procedures.	has_symptom
+1deece2f1574bbf7ecdb4e090c53c239a8420fff	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterized by several abnormalities, including severe platyspondyly and vertebral wedging.	has_symptom
+832e9f986fe20e4d10e1c2b4721e518543f9177c	@DISEASE$ is defined as a short limb @PHENOTYPICFEATURE$ characterized by dumbell like configuration of long bones, a narrow but normal length of thorax and occasionally a coccygeal appendage similar to a tail.	has_symptom
+295c3ac23f1a974e45d6645cc96f74f77f5b6cad	Metatropic dysplasia is defined as a @PHENOTYPICFEATURE$ @DISEASE$ characterized by dumbell like configuration of long bones, a narrow but normal length of thorax and occasionally a coccygeal appendage similar to a tail.	false
+1df6fa643c0af5845d7af2daae9de8b44f4cf475	@DISEASE$ is defined as a @PHENOTYPICFEATURE$ skeletal dysplasia characterized by dumbell like configuration of long bones, a narrow but normal length of thorax and occasionally a coccygeal appendage similar to a tail.	false
+d3db49f8e8426949be8a8bae437df27a936fe5bf	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterized by rapid collapse of the thoracolumbar spine into kyphoscoliosis.	has_symptom
+3466c330f046e42d11cb95cf6b578ae2d7494b87	@DISEASE$ (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmological abnormalities, including corneal opacities, @PHENOTYPICFEATURE$, and strabismus.	has_symptom
+2d375ea49cbe997ba11b343aa5bf074b342e9a9e	@DISEASE$ (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, @PHENOTYPICFEATURE$, and strabismus.	has_symptom
+5c81396445a4897857a3bbf4671d2170269b8d6c	@DISEASE$ (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, @PHENOTYPICFEATURE$ often culminating in blindness, and systemic disease causing a shortened lifespan.	has_symptom
+5a306361ed6baea621d40ebeffa15727c04501b6	Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe @PHENOTYPICFEATURE$, motor and speech deficits, retinal degeneration often culminating in @DISEASE$, and systemic disease causing a shortened lifespan.	false
+e684c493ebc6698ef61a9128772641a66a0d60c4	Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe @PHENOTYPICFEATURE$, motor and speech deficits, retinal degeneration often culminating in blindness, and @DISEASE$ causing a shortened lifespan.	false
+20ed554d7781326ae6ac862d1bf310a98f1ef48d	@DISEASE$ (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe @PHENOTYPICFEATURE$, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan.	false
+5d6078dd634327761bdaacdab24470e8e6ec6527	Mucolipidosis type IV (MLIV) is an autosomal recessive, @DISEASE$ causing progressively severe @PHENOTYPICFEATURE$, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan.	false
+6f6eff566ca1f0ea57c3469026f76474b22f4d87	Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe @PHENOTYPICFEATURE$, motor and speech deficits, @DISEASE$ often culminating in blindness, and systemic disease causing a shortened lifespan.	false
+450faf28cabbf6fb04c85134fe597cce09b2aeba	Loss or mutation of TRPML1 can cause @PHENOTYPICFEATURE$ and eventually blindness in mice and men (@DISEASE$).	has_symptom
+86f42a2056baf4be08e02c2186670f6a56b65cd4	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), fever (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @PHENOTYPICFEATURE$, one @DISEASE$ and one pyoderma gangrenosum.	has_symptom
+b0a178518c283de2166e4dbd563368dcad8b0f59	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one autoimmune hepatitis and one @DISEASE$.	false
+25e1b8dbc843d56b6f0dea5f4f1e7032df47d4a6	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one @DISEASE$ and one pyoderma gangrenosum.	false
+4184428a2afeb64285b96e7b4f3ef271800e681a	The basic signs of the disease involved chronic mucosal haemorrhagic @DISEASE$ which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one autoimmune hepatitis and one pyoderma gangrenosum.	false
+d5ccac1917e5e285c7869ef9d904683a7e1ed7de	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @DISEASE$, one autoimmune hepatitis and one pyoderma gangrenosum.	false
+4f1a3a8fe454587da16561d730c988ea3934775f	@PHENOTYPICFEATURE$ and Fevers in a Patient With @DISEASE$.	has_symptom
+a8cd67cd4be74bf71abffe6b9a6d1130d0e5006b	The @DISEASE$ phenotype: @PHENOTYPICFEATURE$, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.	has_symptom
+9fac9849eca9a050e71b5d341f268be609cad010	The desmosterolosis phenotype: @DISEASE$, microcephaly and @PHENOTYPICFEATURE$ with agenesis of corpus callosum and loss of white matter.	false
+8eeae97ac9592dd59d6283f5abd6644dcd04f27c	The @DISEASE$ phenotype: spasticity, microcephaly and @PHENOTYPICFEATURE$ with agenesis of corpus callosum and loss of white matter.	false
+fdc362d332cc2c9eeaebf44c728dfa734bdff4d9	The @DISEASE$ phenotype: spasticity, @PHENOTYPICFEATURE$ and micrognathia with agenesis of corpus callosum and loss of white matter.	false
+3939b497aacdd3c95ecbf785c3a5cb2b2595b2d8	The desmosterolosis phenotype: @DISEASE$, @PHENOTYPICFEATURE$ and micrognathia with agenesis of corpus callosum and loss of white matter.	false
+beba76b29d0dded367a31e51a0cfed3a1a71ead5	Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, failure to thrive, dysgenesis of the corpus callosum, cerebral white matter atrophy and @PHENOTYPICFEATURE$ likely constitute the minimal @DISEASE$ phenotype.	has_symptom
+7003da7e6c017928ed8378efa03ea166e07c3b0c	Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, @PHENOTYPICFEATURE$, dysgenesis of the corpus callosum, cerebral white matter atrophy and spasticity likely constitute the minimal @DISEASE$ phenotype.	false
+a6c7986ed3d642005d961c908b9ea3f7ef797c0c	Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, @PHENOTYPICFEATURE$, dysgenesis of the corpus callosum, cerebral white matter atrophy and @DISEASE$ likely constitute the minimal desmosterolosis phenotype.	false
+07b72bac03ed4c839a06e0b49ccef81279b67103	The most frequent causes of death among the group as a whole (82/177 patients) were interstitial @PHENOTYPICFEATURE$, acute and chronic graft versus host reactions (@DISEASE$), recurrences and the toxic effects of previous treatment.	has_symptom
+17e4f2770f44d19c496c57b814060c74aedeb957	Relapse was the major cause of death in the control group (54%), followed by infection, interstitial @PHENOTYPICFEATURE$, veno-occlusive disease and @DISEASE$.	has_symptom
+f5519ce0a2062a020b49abdd9f932b3484dad42b	Complications of BMT were evaluated including acute graft-versus-host disease (@DISEASE$), interstitial @PHENOTYPICFEATURE$ (IP), veno-occlusive liver disease (VOD), abnormalities of liver function (LF), and alteration of hepatitis B virus (HBV) markers.	has_symptom
+9f21eed8aa28cf2d49ab008df0c51d5c2a689fce	Cells from bronchoalveolar lavage fluid of four patients with chronic eosinophilic pneumonia and four patients with eosinophilic infiltrates associated with Sj?gren's syndrome, drug hypersensitivity @PHENOTYPICFEATURE$, postradiotherapy fibrosis, and pulmonary disease associated with @DISEASE$ were studied ultrastructurally and with immunogold labelled antibodies directed against eosinophil proteins: major basic protein, eosinophil cationic protein, and Charcot-Leyden crystal protein.	has_symptom
+32b88a17299534ef25f4735f3162a002cf34b6aa	@DISEASE$ in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on @PHENOTYPICFEATURE$, multicystic ovaries, and bone densitometry in childhood.	has_symptom
+9f1b955f4673a4d283ad2fd092605fc7069e001f	LmnaHG/+ mice exhibited phenotypes similar to those in human @DISEASE$ patients, including retarded growth, reduced amounts of adipose tissue, @PHENOTYPICFEATURE$, osteoporosis, and osteolytic lesions in bone.	has_symptom
+aed051c1af6a4f7237f969efd6a8dff8d6fa2363	LmnaHG/+ mice exhibited phenotypes similar to those in human @DISEASE$ patients, including @PHENOTYPICFEATURE$, reduced amounts of adipose tissue, micrognathia, osteoporosis, and osteolytic lesions in bone.	false
+565db2ed5c7694073b1b2cb7561c8629081706a9	LmnaHG/+ mice exhibited phenotypes similar to those in human HGPS patients, including @PHENOTYPICFEATURE$, reduced amounts of adipose tissue, micrognathia, osteoporosis, and @DISEASE$ in bone.	false
+d6237bcf0a32a7a642d5f8f8060448037d2b1f74	LmnaHG/+ mice exhibited phenotypes similar to those in human HGPS patients, including @PHENOTYPICFEATURE$, reduced amounts of adipose tissue, @DISEASE$, osteoporosis, and osteolytic lesions in bone.	false
+88d07c194df58f92b9a6d7fcc6bf5200060717f6	Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, @PHENOTYPICFEATURE$, dental abnormalities, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with @DISEASE$, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.	has_symptom
+be20055377666c17573325a9e0c352ef2ee5e4f3	Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, @PHENOTYPICFEATURE$, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with @DISEASE$, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.	false
+0cc77cae97fb54142afabdfd4315f58f3a3c36f1	Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, @PHENOTYPICFEATURE$, @DISEASE$ in bones, and osteoporosis, which are phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.	false
+8cd067f9fd7926a0c3fa93abac6599ea6408c2e8	Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, @PHENOTYPICFEATURE$, osteolytic lesions in bones, and @DISEASE$, which are phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.	false
+6d3a8562fbc01843c312b82e581243f37750165d	Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, @DISEASE$, @PHENOTYPICFEATURE$, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with Hutchinson-Gilford progeria syndrome, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.	false
+64e5b9de125f15312c2369f7edd0c7542a56466a	There is one published report of human @DISEASE$ describing two sisters with @PHENOTYPICFEATURE$, proximal weakness, myoglobinuria, and lactic acidosis.	has_symptom
+5069b40e510c04a9f3861281ea7fbaab79eb0bcb	@PHENOTYPICFEATURE$, cataract, micropthalamia, patent ductus arteriosus and pulmonary stenosis are common clinical manifestations in a child affected with @DISEASE$.	has_symptom
+f4b33c9b837c71e8f129eef6d479b33c64c7805e	@DISEASE$, @PHENOTYPICFEATURE$, micropthalamia, patent ductus arteriosus and pulmonary stenosis are common clinical manifestations in a child affected with CRS.	false
+9026a6b436877e11dcdd67135bcd266be1477b7f	Sensorineural deafness, @PHENOTYPICFEATURE$, micropthalamia, patent ductus arteriosus and pulmonary stenosis are common clinical manifestations in a child affected with @DISEASE$.	false
+c46a5f8a507d4c4088ffac479a46dda8d867b3ca	This was a case-control study to estimate prevalence of @DISEASE$ in Tehran (Iran) by evaluating the proportion of children with @PHENOTYPICFEATURE$ attributable to rubella.	has_symptom
+104da3cc6554f3d1ef8dd64d6a69e04f90a46389	Cataracts, congenital heart defects, and @PHENOTYPICFEATURE$ are the classic triad of @DISEASE$ and they typically occur if the fetal infection occurs in the first 11 weeks of gestation.	has_symptom
+3eb887ecfb2ab2738d679e96b47431f371b604d5	Cataracts, @PHENOTYPICFEATURE$, and @DISEASE$ are the classic triad of congenital rubella syndrome and they typically occur if the fetal infection occurs in the first 11 weeks of gestation.	false
+a903ecd463436924414c8b5b74431176d0a5f258	Cataracts, @PHENOTYPICFEATURE$, and sensorineural deafness are the classic triad of @DISEASE$ and they typically occur if the fetal infection occurs in the first 11 weeks of gestation.	false
+c277e1649b5940148db31a8d7478410ea6cc50f2	The prevalence of @DISEASE$ in the pre-vaccine period can be estimated by evaluating the proportion of children in the population with @PHENOTYPICFEATURE$ attributable to rubella.	has_symptom
+33201a4412cbde87f12edb8d9a59b5017c438f52	Rubella infection during pregnancy causes @DISEASE$, including the classic triad of cataracts, cardiac abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+37246b5848171f2f908d6d6e0fd7f09635c0746d	Rubella infection during pregnancy causes congenital rubella syndrome, including the classic triad of @PHENOTYPICFEATURE$, cardiac abnormalities and @DISEASE$.	false
+3752f0bec3210e54a96e14da3891b9a995808bab	@DISEASE$ during pregnancy causes congenital rubella syndrome, including the classic triad of cataracts, @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+9db5d8c17dcc61da396ea5fe88deb14ee4b02dbd	Rubella infection during pregnancy causes @DISEASE$, including the classic triad of @PHENOTYPICFEATURE$, cardiac abnormalities and sensorineural deafness.	false
+e00f8d35db1917c9369162a9b89c5fc2666e8ae3	Rubella infection during pregnancy causes @DISEASE$, including the classic triad of cataracts, @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+67cc6a23f1eddb864a1167724b95f42290fbed7f	Rubella infection during pregnancy causes congenital rubella syndrome, including the classic triad of cataracts, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6c64739e043fcb538fd5c8d14bb890d689f6aaba	@DISEASE$ during pregnancy causes congenital rubella syndrome, including the classic triad of @PHENOTYPICFEATURE$, cardiac abnormalities and sensorineural deafness.	false
+d6f8bfcbd18409223ea65eeb5192108e62797821	Among the six fetuses with serologic evidence of congenital infection, one had @DISEASE$ with @PHENOTYPICFEATURE$, two were terminated during the second trimester, two others were normal, and one was lost to follow-up.	has_symptom
+271872958a5f5bc72d08b51cd5158e4a742fad1e	The prevalence of @DISEASE$ was approximately 0.2/1000 before rubella vaccination in Iran, Moreover; the results suggest that implementation of appropriate rubella vaccination programs could potentially prevent about 12% of cases of @PHENOTYPICFEATURE$ in Iranian children.	has_symptom
+58397924c49912e87c41e75fe7288a2d3c1eb4e6	A 2-year-old patient, diagnosed with @DISEASE$ including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	has_symptom
+753d6ccab020b0a5913002a43f67526f138a5d6f	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+d449c62a4976dd55b6627410dcf024c5a7675fdf	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+e6de93cbfa9c54aef6e49bd5bd8260affd15d3f7	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+3becd9ffbfb103ddbf2431240bdc51ca41bdd211	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+c56c66fa45c798112d476e8b45288b083c123095	A 2-year-old patient, diagnosed with congenital rubella syndrome including @DISEASE$, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+580570537508323a2e4f0a2dd1686478ae97cf51	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+5b0931607027f198f766716ff644b763dfc45498	A 2-year-old patient, diagnosed with congenital rubella syndrome including @DISEASE$, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+3d80c57a32099687f6b1b3ea51dc661c758fdbea	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+3f45259dd9fc35d13ce294346abfd2f7e1741120	A 2-year-old patient, diagnosed with congenital rubella syndrome including @DISEASE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+ff6aa023d341fb914d01000e12a1bec615ce20c0	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+771ac9e05fa35305cce0cfaff66b2e2a413d5af3	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+220a18aa91c98c8f35e611ad6ce2bc98c7abf280	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+c98befd167e82ad7ebf1c83ba6ea521a819dae46	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+93d9abe29342cb75719cd95f5fb4cbc5e8bf6731	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+cb1d20d307c46ea56291aedd39f5f72100c2a6d0	A 2-year-old patient, diagnosed with congenital rubella syndrome including @DISEASE$, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+85f8631aa396de9a3a1e683ac2fe193ece60dbec	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+45ee88aeeb42ddf1b1fa81568fb9e43f84828e07	Withdrawn: Severe @PHENOTYPICFEATURE$ with neuropathy in hereditary @DISEASE$.	has_symptom
+972c6e214abb73a4c740496324d40c0936c6f8e6	Severe @PHENOTYPICFEATURE$ with neuropathy in hereditary @DISEASE$.	has_symptom
+428d2b42d339e11cc26bcf9313a906b26358ba8a	Severe @PHENOTYPICFEATURE$ with neuropathy in hereditary @DISEASE$: a case report.	has_symptom
+9623a04a5aaa51869df10dca70386f664fc9cceb	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, @PHENOTYPICFEATURE$, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.	has_symptom
+951d4c75fc77272d112f649235b395b76fd1941f	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, @PHENOTYPICFEATURE$ associated with other clinical expressivity present among the previous reported cases.	false
+4b426e7f18825e2afb57b1efc54391ffa61168b3	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, @PHENOTYPICFEATURE$, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+bfd0785e798bf6ca1a727459d1210029ead8492c	The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, @DISEASE$, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, @PHENOTYPICFEATURE$ associated with other clinical expressivity present among the previous reported cases.	false
+3d6a45c5046fda7b6457c6a84e3e568ce1e4b6b8	The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, @DISEASE$, truncal obesity of mid-childhood onset, @PHENOTYPICFEATURE$, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+42c2217c46590b03987bbc2b259dfc179324f9c8	The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, @DISEASE$, truncal obesity of mid-childhood onset, muscle hypotonia, @PHENOTYPICFEATURE$, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+7dc76fb0974b8ad1ec50eab2ae7038a9f06c28bd	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, @PHENOTYPICFEATURE$, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+9fc40d2e075cb7d9239b0331f3bbb8bc2756c7f3	The most likely diagnosis for these siblings is the autosomal recessive @DISEASE$ of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, @PHENOTYPICFEATURE$, and open mouth with prominent incisors.	has_symptom
+a2ab71d519aa26525b3988fa0c182344628447a4	The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of @PHENOTYPICFEATURE$, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, @DISEASE$, and open mouth with prominent incisors.	false
+c486feaf82004c58aae9271084db30cfe734ad2d	The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, @PHENOTYPICFEATURE$, pleasant affect, @DISEASE$, and open mouth with prominent incisors.	false
+b7af7fa750feea16911a7969e778d331cc006f2f	The most likely diagnosis for these siblings is the autosomal recessive @DISEASE$ of mental retardation, congenital hypotonia with Marfanoid habitus, @PHENOTYPICFEATURE$, pleasant affect, micrognathia, and open mouth with prominent incisors.	false
+35c264735e6f9aeab12339f19da689b078cf895d	The most likely diagnosis for these siblings is the autosomal recessive @DISEASE$ of @PHENOTYPICFEATURE$, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors.	false
+0fb51ae5548e2f81d6dfd069f5df7d721108899d	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @PHENOTYPICFEATURE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	has_symptom
+e4f24883915ea82a7beabde47d4a7308a390a901	Cohen syndrome is a rare @DISEASE$ caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+de1551f9e5734055a83464b0af90f57be6c26ba4	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched @DISEASE$, microcephaly, prominent upper central incisors, poor dentition, @PHENOTYPICFEATURE$, and truncal obesity.	false
+26a66fdfa09c88587c45ccf4f8bd0f6f058a756b	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched @DISEASE$, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+4b8f98edf28ac1f114f9bd659ed399a8ef376752	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal @DISEASE$.	false
+00a7c9c719e98770cf1369bc975507a47010561c	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @PHENOTYPICFEATURE$, and truncal obesity.	false
+a411c6c17b68dd008af744fe45a141c29b0577f2	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, @DISEASE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+4974b69d8c4bfa3317c631bd1859eee8dcaafb6c	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @DISEASE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @PHENOTYPICFEATURE$, and truncal obesity.	false
+653564925a7984252f89edd48df880134ac95af5	Cohen syndrome is a rare @DISEASE$ caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+63848231efe25051e2425cf83c2942b30f0b211d	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+4b247b3bed05315a5f05c8ceb5d16710d5f3f492	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched @DISEASE$, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+1463557ccf258b84d319c9224c013c5ccc69df4b	Cohen syndrome is a rare @DISEASE$ caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @PHENOTYPICFEATURE$, and truncal obesity.	false
+79857b640553ac291a56b8d0e480f3841f799cbe	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal @DISEASE$.	false
+d113d822a9f28d3c9d56982611c06849428d806a	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @PHENOTYPICFEATURE$, and truncal @DISEASE$.	false
+247991b83ff5241442ebb4564b207fad0b6ac62e	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @DISEASE$, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+7d35c9093d7cac53b378f32be5212425a67a852f	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+9e5e67d4f750dfbd08b92026346c0481ed938136	A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have @PHENOTYPICFEATURE$ and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with @DISEASE$.	has_symptom
+7b52aa796ede4e491dfc9014c5711bcdf5b689ac	The phenotype was highly homogeneous, with rapid development of severe spastic tetraparesis, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+721542b1d01d419ab146aaeb8d201b04aeb00aa9	She had @DISEASE$, but no @PHENOTYPICFEATURE$.	has_symptom
+0f85a54d371e27071727b4ca4d7f26c4fa730dcb	Patients with HSS/NBIA have a combination of motor symptoms in the form of dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, @DISEASE$, pigmentary retinopathy, and @PHENOTYPICFEATURE$.	has_symptom
+3da39c28c9cc9faeb9dcd9c0f0557329c3d1eb1d	The clinical abnormalities are bilateral @DISEASE$, extrapyramidal signs, spasticity ataxia, dysarthria and mild @PHENOTYPICFEATURE$.	has_symptom
+101a93aff01fa602e2be9656e7168c2d2fea6507	Neurological sequelae at year occurred in 78.5% patients with TBM in the form of @PHENOTYPICFEATURE$, motor deficit and @DISEASE$.	has_symptom
+9af25ec463fc4fc1841a562b8a01f6231260cb4b	One month later, when the patient was referred to another institution for rehabilitation, the patient showed @PHENOTYPICFEATURE$, bilateral @DISEASE$, residual disartria, bradikynesia and double hemiparesia.	has_symptom
+f22a9a552d01ee806079c37a592332d12fc3ffc3	Spasticity, extrapyramidal signs and @DISEASE$ frequently led to major disability, in contrast to ataxia, dysarthria and @PHENOTYPICFEATURE$.	has_symptom
+4d2477b1ba0ba2dfe5d676bf43d3ae89334baa6b	Spasticity, extrapyramidal signs and @DISEASE$ frequently led to major disability, in contrast to @PHENOTYPICFEATURE$, dysarthria and cognitive deficit.	false
+93f3aab64ad6acf9082922a5e18cc2fa8b96eec3	Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to @PHENOTYPICFEATURE$, dysarthria and @DISEASE$.	false
+f080d0a889df2b9ded2c4b8bbb2771ccb642a378	Recessive mutations in ATP8A2 cause severe hypotonia, @PHENOTYPICFEATURE$, hyperkinetic movement disorders and progressive @DISEASE$.	has_symptom
+2d7ae4dbb564d9d1abcfec018e3a3177b1edb127	Recessive mutations in ATP8A2 cause severe hypotonia, @DISEASE$, hyperkinetic @PHENOTYPICFEATURE$ and progressive optic atrophy.	false
+646c60b826df30c2e924923aa3c0ffcd1623d522	Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic @PHENOTYPICFEATURE$ and progressive @DISEASE$.	false
+b8a4d58d3d1e93c7afeef66d2dd764d653717648	On admission, he had @DISEASE$ without diabetic retinopathy in both eyes, sensory impairment of the lower extremities, ataxia, and @PHENOTYPICFEATURE$.	has_symptom
+e286e3438aa636c947775c736d99aba766e99a84	On admission, he had optic atrophy without diabetic retinopathy in both eyes, sensory impairment of the lower extremities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c13c338d2d6b55f5856b2855a4b47b9cd4cdd3da	On admission, he had @DISEASE$ without diabetic retinopathy in both eyes, sensory impairment of the lower extremities, @PHENOTYPICFEATURE$, and cognitive impairment.	false
+761014b3ba3f6c0b8c57442e6f99cba2f710253f	We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6d617a34207e632e64c596a7982f881e21da1d75	TECTA is a causative gene of autosomal dominant (DFNA8/A12) and autosomal recessive (@DISEASE$) nonsyndromic @PHENOTYPICFEATURE$ (NSHL).	has_symptom
+4a0096ac146f71de6005e1de23c04802ee16aff5	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @PHENOTYPICFEATURE$, seizures, and motor dysfunction.	has_symptom
+9621405e6b0e7e6b47d61afc9782bd1c17d2e062	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive @DISEASE$, blindness, @PHENOTYPICFEATURE$, and motor dysfunction.	false
+7346f257a5ec637da70616f7055eb706eca900e8	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @DISEASE$, @PHENOTYPICFEATURE$, and motor dysfunction.	false
+8064b6d59cb458472135c851abb3be38f58077e4	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, @PHENOTYPICFEATURE$, and motor dysfunction.	false
+6054fae6c7ef340504372f5ef2549a59e2224000	To describe the anesthetic management of a patient with @DISEASE$ (JBD), the late infantile form of neuronal ceroid lipofuscinosis, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and @PHENOTYPICFEATURE$.	has_symptom
+f525bce3ccfca31df8a3e14203fbada054b3dc1a	@DISEASE$ (TS) is a rare multisystem genetic disorder characterized by a myriad of abnormalities, including QT prolongation, @PHENOTYPICFEATURE$, and neurologic symptoms.	has_symptom
+487e3de4765f6b251aa7ed7104b51e7031d7b295	A rare association with suffered cardiac arrest, long QT interval, and @PHENOTYPICFEATURE$: @DISEASE$ (LQT-8).	has_symptom
+64029bbf8b5f5eea286f9c7f0ca7206dbe00773d	@DISEASE$ is a rare multiorgan disorder with prolonged QTc interval, congenital heart defects, @PHENOTYPICFEATURE$, typical facial features and neurodevelopmental problems.	has_symptom
+f8440c87b93be4adfdb6639f8b92368772c35c24	Timothy syndrome is a rare multiorgan disorder with prolonged QTc interval, @PHENOTYPICFEATURE$, syndactyly, typical @DISEASE$ features and neurodevelopmental problems.	false
+dcdde2fe015ca6d152c9fc9ea3a2f8dd551e54ee	Timothy syndrome is a rare multiorgan disorder with prolonged QTc interval, @PHENOTYPICFEATURE$, @DISEASE$, typical facial features and neurodevelopmental problems.	false
+c8eb8c0b835bff40f1810db6bd4ac8df30a8ff78	@DISEASE$ is a rare multiorgan disorder with prolonged QTc interval, @PHENOTYPICFEATURE$, syndactyly, typical facial features and neurodevelopmental problems.	false
+41a4ce21429c2d4a66bb54e5f73b95bf47e3472b	A rare association of long QT syndrome and @PHENOTYPICFEATURE$: @DISEASE$ (LQT 8).	has_symptom
+be4231e644f1d9cd0920cf65fda05d10dd7bf9f0	After the discovery of the CACNA1C gene as the causative gene for @DISEASE$, patients with CACNA1C mutations with QT prolongation but without @PHENOTYPICFEATURE$ were described.	has_symptom
+b3dbec729259f3cceaee8dbaee8fd08ba9a2ba68	Long QT, @PHENOTYPICFEATURE$, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of @DISEASE$.	has_symptom
+2579337d0eb93223c9db9bc4a163040b9b7c2310	Long QT, syndactyly, @PHENOTYPICFEATURE$, stroke and novel CACNA1C mutation: expanding the spectrum of @DISEASE$.	false
+0d3422b792ea047f594b21216a3fcade579fa34e	Long QT, @DISEASE$, @PHENOTYPICFEATURE$, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.	false
+cef05904bae6f9a4fe64480d4a764afd08813f74	@DISEASE$ (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @PHENOTYPICFEATURE$, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	has_symptom
+b7f9c1be7e09fbf1adc5a020830b35431c4ac197	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @DISEASE$, @PHENOTYPICFEATURE$, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	false
+d35f376481bf8682894f767a17660aefa24952e8	@DISEASE$ (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, @PHENOTYPICFEATURE$, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	false
+7548f41987182ec52f3c14eaa4b0b1a038cb5950	Timothy syndrome (TS) is an extremely rare @DISEASE$ characterized by marked QT prolongation, syndactyly, @PHENOTYPICFEATURE$, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	false
+471ed489500c34ed0c8c948010c40a5d0524491d	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, @PHENOTYPICFEATURE$, behavioural abnormalities, immunodeficiency, and @DISEASE$.	false
+02dfdacda91980c9e7fdb19348c488f10607e5b3	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, @PHENOTYPICFEATURE$, behavioural abnormalities, @DISEASE$, and hypoglycaemia.	false
+3207c3cdd94ec30e47682fe96b929481f049fe57	@DISEASE$ 1 genotype without @PHENOTYPICFEATURE$ and major extracardiac manifestations.	has_symptom
+3f5fbeeaacbfc83a2b6b5790a9e8ef31838e1179	To examine the efficacy of preoperative electrocardiogram (EKG) screening for @DISEASE$, a rare and fatal condition characterized by prolonged QT, in children referred for @PHENOTYPICFEATURE$ release.	has_symptom
+c63b79580266f4cbcbd0c7a0fc44bfb65b07741e	@DISEASE$-like condition with @PHENOTYPICFEATURE$ but without prolongation of the QT interval.	has_symptom
+69baa74fd481c4bbac9c2dcd7c16593fced7e1a0	Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic @DISEASE$, @PHENOTYPICFEATURE$, and psychomotor retardation.	has_symptom
+6aef5d30e20dc340835d65e9f924cab9ec2790f8	Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic @DISEASE$, @PHENOTYPICFEATURE$, and psychomotor retardation.	has_symptom
+dfcf46cf33654b6476300b4d261794812601a1de	Action @PHENOTYPICFEATURE$ renal failure (@DISEASE$) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	has_symptom
+5c19b1216d55282ffcb51ca785776fae7d5b3baa	Action @DISEASE$ @PHENOTYPICFEATURE$ (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	false
+90002ea7b1de8c71ffff0b64be94b7225124d520	Action myoclonus @PHENOTYPICFEATURE$ (@DISEASE$) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	false
+eee898ef21199e1b2671b80f0ef93844fb23c3b4	Action myoclonus @PHENOTYPICFEATURE$ (AMRF) @DISEASE$ is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	false
+9d5792ec0aee8f00b70b811bb3119241bbed5c78	Anxiety disorders and major depressive disorder (@DISEASE$) are common and @PHENOTYPICFEATURE$ mental disorders.	has_symptom
+dcedc236c934fca10590e20a81761091ad4c7ac4	Open-trial results demonstrate strong ameliorative changes in worry, rumination, self-reported and clinician-rated GAD and @DISEASE$ severity, social @PHENOTYPICFEATURE$, quality of life, attentional flexibility, decentering/distancing, reappraisal, trait mindfulness, and negative emotionality from pre- to posttreatment.	has_symptom
+80bb1bf7e2689b2b8039e5d6f73d7d06f9f1760d	Major Depressive Disorder (@DISEASE$) is a leading cause of @PHENOTYPICFEATURE$ worldwide.	has_symptom
+8324ec493b769daffe9b6d47281849ad070e7263	Major depressive disorder (@DISEASE$) is a common condition in the elderly that is frequently associated with @PHENOTYPICFEATURE$ and cognitive impairment.	has_symptom
+f5a826667c03d3dc4d9ea1c61e701fd6955174a7	Major depressive disorder (MDD) is a common condition in the elderly that is frequently associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b0744f6d745c5ff3a22dd43c3b564ec6248dc629	Major depressive disorder (@DISEASE$) is a common condition in the elderly that is frequently associated with disability and @PHENOTYPICFEATURE$.	false
+3c799693477e1231abdba8de275f11cf77cee65f	@DISEASE$ (MDD) is a common condition in the elderly that is frequently associated with disability and @PHENOTYPICFEATURE$.	false
+6652408c708700c220c52d1f01f5088ac7ed0de9	Major Depressive Disorder (MDD) is a prevalent illness that is frequently associated with significant @PHENOTYPICFEATURE$, morbidity and mortality Despite the development and availability of numerous treatment options for @DISEASE$, studies have shown that antidepressant monotherapy yields only modest rates of response and remission.	has_symptom
+801dec2903cca9812d58eb9bb616b1a447f8270c	Major Depressive Disorder (@DISEASE$) is a prevalent illness that is frequently associated with significant @PHENOTYPICFEATURE$, morbidity and mortality Despite the development and availability of numerous treatment options for MDD, studies have shown that antidepressant monotherapy yields only modest rates of response and remission.	has_symptom
+46b769ce3b1d9a4a0feeca69a66217e2e0e1dce3	Factors significantly associated with @DISEASE$ included: declining socio-economic status, increasing @PHENOTYPICFEATURE$ scores, decreasing mean grip strength, reported back pain, and not having hypertension.	has_symptom
+30ef94903ccb9c12644eb8d11d042742a48f81a8	@PHENOTYPICFEATURE$ varies in patients with major affective disorders [type I and II bipolar disorders (BPD) and recurrent unipolar major depressive disorder (UP-@DISEASE$)].	has_symptom
+cf4578621be4793f23e19764c400f30070773bce	Major depressive disorder (@DISEASE$) is associated with significant @PHENOTYPICFEATURE$, having a profound impact on psychosocial functioning.	has_symptom
+3fc0c2efb47e70774a19cc8c4358ba5885d55ad2	Major Depressive Disorder (@DISEASE$) is one of the most prevalent and @PHENOTYPICFEATURE$ mental disorders.	has_symptom
+baa68333dcef73204270440d5ecc1e0f0aa6a639	Compared with the mean normal value (5.2 +/- 2.5 pmol CO2 formed/hr/ml) reported in Part I, a significant increase of GAD activity in CSF was demonstrated in patients with uncontrolled @PHENOTYPICFEATURE$ (11.4 +/- 3.9 pmol CO2 formed/hr/ml), febrile convulsions (13.5 +/- 8.7), viral meningitis with or without encephalitis (20.3 +/- 13.6), encephalopathies (30.0 +/- 25.9), CNS leukemia (11.1 +/- 5.0), @DISEASE$ (20.5 +/- 7.3) and pseudoileus neonatorum (28.6).	has_symptom
+2f11abdd530fcaf33e22fbe58ecc2b0a065af438	These receptor-mediated activities can contribute to disease pathogenesis and have therapeutic relevance to human CNS disorders as demonstrated for multiple sclerosis (MS) and possibly others that include @DISEASE$, ischemic stroke, neurotrauma, neuropsychiatric disorders, developmental disorders, @PHENOTYPICFEATURE$, hearing loss, and Sandhoff disease, based upon the experimental literature.	has_symptom
+51e62cb7629230ef0a6a92b6881699c228d85236	This case involves an 18-year-old male with @DISEASE$ and @PHENOTYPICFEATURE$ diagnosed at 7 months of age.	has_symptom
+0e380a3fb15690702a85b0ddb74c26dcabdcf2be	A 13-month-old girl with a history of severe @DISEASE$ associated with myeloschisis underwent ventriculoperitoneal shunt placement after repair of myeloschisis and developed convulsive @PHENOTYPICFEATURE$.	has_symptom
+7d9da14382a9ae76ae409cc3a54a612b56dc1616	A 38-year-old patient with @DISEASE$ and left hippocampal sclerosis underwent selective left amygdalohippocampectomy for medically refractory @PHENOTYPICFEATURE$.	has_symptom
+df78bdb6d508c31dffc3a1fd1dc75e9f815c6c03	We documented @PHENOTYPICFEATURE$ in 33 of 68 (48.5%) children with @DISEASE$ not associated with myelomeningocele.	has_symptom
+c3b819ab2a6dab1f5222610f14031aa9f11a5289	Our study indicates that medication can be safely discontinued in children with @DISEASE$ who are of normal intelligence and have been @PHENOTYPICFEATURE$ free on anticonvulsants for 3 years.	has_symptom
+410b3c0f3b84c90ea81224d5b4c25dab7e213206	@PHENOTYPICFEATURE$ in children with @DISEASE$: long-term outcome.	has_symptom
+49bed628d0c1a62a27ed9a2a1b274ae8ee5f69a5	Perinatal findings of @DISEASE$: a case report of a fetus showing primordial dwarfism and severe @PHENOTYPICFEATURE$.	has_symptom
+7335fdba64e4c2ff214e073966d6d0a014ca55f4	@DISEASE$ is a recessively inherited dwarfism disorder characterized by @PHENOTYPICFEATURE$ and a unique head profile.	has_symptom
+37fbf55a3081a9a25ec9685b17f56fee33f67232	Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for @PHENOTYPICFEATURE$ and @DISEASE$ spectrum disorders.	has_symptom
+00d3dee65188c9ca4c88edcb9016d2d1c349aba5	Mutations in CEP63 cause @DISEASE$, a human disease characterized by @PHENOTYPICFEATURE$ and dwarfism.	has_symptom
+97a7fe2e65adcc725843018a75cb6134cc16e796	@DISEASE$ should be kept in mind in the differential diagnosis of severe @PHENOTYPICFEATURE$, accompanied by fetal growth restriction.	has_symptom
+56f1d507a26a2ad4b066cf8df21b40cf459d5920	@PHENOTYPICFEATURE$ and a low birth weight are present in @DISEASE$, but also in the newborn of epileptic mothers who received anticonvulsive drugs.	has_symptom
+5de40311401a99b1bd5328136f387f06c3f9a4b3	Primary @PHENOTYPICFEATURE$, @DISEASE$, and microcephalic osteodysplastic primordial dwarfism type II (MOPD II) are disorders exhibiting marked microcephaly, with small brain sizes reflecting reduced neuron production during fetal life.	has_symptom
+67e6b431d13a6c6592b0025b3f526806270802cf	Primary microcephaly, @DISEASE$, and microcephalic osteodysplastic primordial dwarfism type II (MOPD II) are disorders exhibiting marked @PHENOTYPICFEATURE$, with small brain sizes reflecting reduced neuron production during fetal life.	has_symptom
+968b54632d148a0e74fa16e6f2e6b1db7a4808dc	ATR deficit is known to cause @DISEASE$, characterized by severe proportionate short stature and @PHENOTYPICFEATURE$.	has_symptom
+4923e53e9548575edb65add7b32e0d1320167dae	ATR deficit is known to cause Seckel syndrome, characterized by severe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b4e5455feb8266722150fdd2a8ac9fb8dcec7451	ATR deficit is known to cause @DISEASE$, characterized by severe @PHENOTYPICFEATURE$ and microcephaly.	false
+8fb3098fa54d2ca002936daeb4bb6aa20551b198	@DISEASE$ (SS) is a rare spectrum of congenital severe @PHENOTYPICFEATURE$ and dwarfism.	has_symptom
+ba0973c9cc356942d933f091a1c5bccc4373c907	@DISEASE$ is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+fd84656cc958c744256ff259e3ae02ad1196aa86	@DISEASE$ is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and @PHENOTYPICFEATURE$.	false
+aba3a8b1a8ec74443bd494fbccc7423b3ca0f70d	Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8d4d30e8a48b9d2c8e4bb79f9c1ec8d3df680a11	Seckel syndrome is a rare autosomal recessive disorder characterized by @DISEASE$, dwarfism, microcephaly and @PHENOTYPICFEATURE$.	false
+afd770dc644765a388bb427b213e45e749bc1125	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, @DISEASE$, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and @PHENOTYPICFEATURE$.	has_symptom
+d4ddbb376bdc49afb6744bba0d743eb255a9c227	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, @PHENOTYPICFEATURE$, psychomotor retardation, and @DISEASE$.	false
+d02d88f35aa50bcf4533bb94084833efc952bcb7	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with @DISEASE$, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, @PHENOTYPICFEATURE$, psychomotor retardation, and growth delay.	false
+0b6b71367e9b1f45fa1e99d258319d95ab8b59bc	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, @DISEASE$, intermittent hypoglycemia, @PHENOTYPICFEATURE$, psychomotor retardation, and growth delay.	false
+1f9dc535a15147578fb119bf23325effe9f096d5	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, @DISEASE$, adrenal insufficiency, intermittent hypoglycemia, @PHENOTYPICFEATURE$, psychomotor retardation, and growth delay.	false
+ed6b7acd94b9fb0447d6aac2e87c70042ca92cb6	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent @DISEASE$, @PHENOTYPICFEATURE$, psychomotor retardation, and growth delay.	false
+f5e5baf1b6c37c5a6a1edd544c6b3f00b564b5fd	Dietary aspects related to health and @PHENOTYPICFEATURE$ in @DISEASE$, Down syndrome, and Prader-Willi syndrome.	has_symptom
+e16f0dd1c0681cbd11f2305c3c69abc9b1e4beaa	A 16-year-old male adolescent diagnosed to have the @DISEASE$ was referred to our @PHENOTYPICFEATURE$ outpatient clinic, due to his morbid obesity (body mass index 39.2 kilograms per square metre) and gluttony.	has_symptom
+cf5b81299e5dcf6640714e1e4d157cddf37ff8fe	The first patient is a child with @DISEASE$, the second, Angelman (Happy Puppet) syndrome, and the third is a child with hypotonia of infancy, @PHENOTYPICFEATURE$, and developmental delay, but who does not meet specific diagnostic criteria for the Prader-Willi syndrome.	has_symptom
+3cdae0b9610551dedc3f7c7537e402a656a8ca8a	During the first few years of life underweight due to feeding problems and gastrointestinal disturbances is considered a common sign in @DISEASE$ (WBS), whereas @PHENOTYPICFEATURE$ is frequently reported in WBS adults.	has_symptom
+323bf1f137573abf3f81cf2c132852915b1a0220	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by severe mental retardation, @PHENOTYPICFEATURE$, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.	has_symptom
+a54af726a93825f734b12ed891875e6749b3d2be	Molecular defects affecting the ATRX gene lead to the ATRX @DISEASE$ (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct @PHENOTYPICFEATURE$, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+4f1a8b240109de8ebe7a05f9fddd09184553a1c2	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, @DISEASE$, distinct @PHENOTYPICFEATURE$, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+4d7fe68fe07d273ba897f3c010b2ebe6a7bb6b28	Molecular defects affecting the ATRX gene lead to the ATRX @DISEASE$ (alpha thalassemia/mental retardation syndrome, X-linked), characterized by @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+80b8c35f266241f0cd428637aca3c847d0ae0400	Molecular defects affecting the ATRX gene lead to the ATRX @DISEASE$ (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and @PHENOTYPICFEATURE$, as well as a wide spectrum of other pathological features.	false
+fbb608622a16319de1e027603da46cddfd5b8a2f	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, @DISEASE$, distinct facial dysmorphism, and @PHENOTYPICFEATURE$, as well as a wide spectrum of other pathological features.	false
+618b533baa84566d50789575bed95502710ead1e	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by @PHENOTYPICFEATURE$, @DISEASE$, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+1f15b9e201b061b26fcaaff0294ee61ab2a21526	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by severe mental retardation, microcephaly, distinct @PHENOTYPICFEATURE$, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+c7b02da73ae406287b72aef26f79ce77f1606751	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and @PHENOTYPICFEATURE$, as well as a wide spectrum of other pathological features.	false
+0b07f1e482867c30062fed0548a3ab720a59f2e0	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+e8822683a765469f5a4ef155d16f7b363c229dd2	@DISEASE$ is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include @PHENOTYPICFEATURE$, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	has_symptom
+1b4501413733eff711865c7478a1b2b1e309d94d	ATR-X syndrome is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include @DISEASE$, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+70ef2131b7a2aefafbd676d0a5c793150d921b6f	@DISEASE$ is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+4beaee47e4d086ab32ec5599a3b228721521de15	@DISEASE$ is an X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+85911b47e690698e8ff4b55bc8d89a3bd5e00741	ATR-X syndrome is an X-linked @PHENOTYPICFEATURE$ @DISEASE$ characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+ecd8f92a6f47e007660e85078875c725e56c13d0	ATR-X syndrome is an X-linked mental retardation @DISEASE$ characterized by @PHENOTYPICFEATURE$, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+e6e59b1de6d3e7f285776af113091b82b8c58248	ATR-X syndrome is an X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$ and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+58f13d356458734b4ed53a653d8021c640e0bfe8	ATR-X syndrome is an X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, alpha thalassaemia and distinct facial features which include @DISEASE$, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+ec326bbbc773a55295369767df83679ca27573ad	ATR-X syndrome is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by mental retardation, @DISEASE$ and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+58c56360f1ba92b2ef8ea368287994e44b4f9f77	One patient with Krabbe disease and three patients with adrenoleukodystrophy/@DISEASE$ presented with pure @PHENOTYPICFEATURE$ of the lower limbs, whilst one patient each with Krabbe disease, metachromatic leukodystrophy and adrenoleukodystrophy/adrenomyeloneuropathy showed additional complicating symptoms.	has_symptom
+88f9cd9043596745c145252e7b751e9a232bcce4	One patient with Krabbe disease and three patients with adrenoleukodystrophy/adrenomyeloneuropathy presented with pure @PHENOTYPICFEATURE$ of the lower limbs, whilst one patient each with Krabbe disease, metachromatic leukodystrophy and adrenoleukodystrophy/@DISEASE$ showed additional complicating symptoms.	has_symptom
+ae29fa4e74f853ec950964ae9f36e98587b19201	X-linked @DISEASE$ (AMN) is a phenotypic variant of adrenoleukodystrophy (ADL) presenting in early adult life with progressive ataxia and @PHENOTYPICFEATURE$, and on occasion with adrenal insufficiency.	has_symptom
+8c22ad57e745bde2f1b38978fba1412e48e8ad02	@DISEASE$ complex (SODC) is a rare congenital anomaly, characterized with @PHENOTYPICFEATURE$, optic nerve hypoplasia with or without pituitary dysfunction.	has_symptom
+56db1d7037986cd602c14fee374261927da10e9b	Septooptic dysplasia (@DISEASE$) is a congenital central nervous system malformation syndrome classically associated with the triad of @PHENOTYPICFEATURE$, optic nerve hypoplasia, and pituitary abnormalities.	has_symptom
+d5a3381c0ad7215bddea3e221d4ef8878f663d7f	@DISEASE$ (SOD) is a congenital central nervous system malformation syndrome classically associated with the triad of @PHENOTYPICFEATURE$, optic nerve hypoplasia, and pituitary abnormalities.	has_symptom
+59b4dd5a1416dfdab04b9c94c4b9e1cdc42b503a	Goldberg-@DISEASE$: Hirschsprung disease, hypotonia, and @PHENOTYPICFEATURE$ in sibs.	has_symptom
+e631048bc905a90fe13eb80800447fcf4635118d	Two of three infants diagnosed with classic @DISEASE$ remained asymptomatic; however, the third infant presented with @PHENOTYPICFEATURE$ and a cerebral infarct at 10 wk of age.	has_symptom
+02258c1a1adae188eb405b3b186adc889fc32009	To elucidate the pathophysiology of @DISEASE$ patients who have a unique neurological phenotype, among fatty acid oxidation disorders, with early developmental delay, CNS malformations, intractable @PHENOTYPICFEATURE$, myopathy and clinical signs suggesting oxidative stress.	has_symptom
+3bbdf903b4a5200ae13acbe05fe00bb0b1a56e95	Dose-response curves for edema and systemic suppression of contact hypersensitivity (CHS) in HRA.HRII-c/+/Skh mice showed that suppression of @DISEASE$ was more sensitive to UVB irradiation by a factor of 2. The UVB dose-response curve for murine @PHENOTYPICFEATURE$ was similar to that for human erythema, with threshold doses of 773 mJ x cm(-2) and 632 mJ x cm(-2), respectively.	has_symptom
+9c992a6e4adad61f670caa209b0e6b4b20d4ac21	Dose-response curves for @PHENOTYPICFEATURE$ and systemic suppression of contact hypersensitivity (CHS) in HRA.HRII-c/+/Skh mice showed that suppression of @DISEASE$ was more sensitive to UVB irradiation by a factor of 2. The UVB dose-response curve for murine edema was similar to that for human erythema, with threshold doses of 773 mJ x cm(-2) and 632 mJ x cm(-2), respectively.	has_symptom
+699059e4a5e44128eace815b37fca125a3e46c4a	Dose-response curves for @PHENOTYPICFEATURE$ and systemic suppression of contact hypersensitivity (@DISEASE$) in HRA.HRII-c/+/Skh mice showed that suppression of CHS was more sensitive to UVB irradiation by a factor of 2. The UVB dose-response curve for murine edema was similar to that for human erythema, with threshold doses of 773 mJ x cm(-2) and 632 mJ x cm(-2), respectively.	has_symptom
+a799bc781d53368c8d48770dd31bdc6cc273b7a4	Dose-response curves for edema and systemic suppression of contact hypersensitivity (@DISEASE$) in HRA.HRII-c/+/Skh mice showed that suppression of CHS was more sensitive to UVB irradiation by a factor of 2. The UVB dose-response curve for murine @PHENOTYPICFEATURE$ was similar to that for human erythema, with threshold doses of 773 mJ x cm(-2) and 632 mJ x cm(-2), respectively.	has_symptom
+fb04367d932a1477fc63a2cb43aaff80682aa4fc	The results of the study demonstrate that VEGFR-2 blockade significantly reduces vascular enlargement and @PHENOTYPICFEATURE$ formation and effects IFN-gamma expression in the skin during challenge in @DISEASE$.	has_symptom
+ba16f161a40807f9dc3bcfe71467910207db2850	We report a case of vasogenic @PHENOTYPICFEATURE$ and subsequent intracerebral hemorrhage caused by the cerebral hyperperfusion syndrome (@DISEASE$) after STA-MCA bypass for atherosclerotic occlusive cerebrovascular disease disease without intense postoperative blood pressure control.	has_symptom
+0e64f5e8f569ff13e992af35586fa0f471b34320	We describe a 55-year-old woman who first developed @DISEASE$ post intracranial stenting with sudden-onset right focal seizures and associated acute focal @PHENOTYPICFEATURE$ on imaging.	has_symptom
+4b5f4504216245205172f647661b73c176853359	Therefore, in this study, to reveal the anti-inflammatory effect of thermal therapy and its mechanism on TMA-induced @DISEASE$, we analyzed ear-swelling response (ear @PHENOTYPICFEATURE$), vascular permeability, serum IgE levels, histological examination, and histamine and Th2 cytokine levels.	has_symptom
+958cf7bc48bf3988991236c348de26af79b4fd2d	Histological examination of challenged ear tissue from these mice indicated minimal @PHENOTYPICFEATURE$ and an acute mononuclear cell infiltration more typical of classical delayed-type hypersensitivity than @DISEASE$.	has_symptom
+375b0f27b1ac1daaf1222801639f01dfc705515f	Pretreatment of mice with anti-IL-4 antibody, anti-IL-5 antibody, recombinant INF-gamma, or the mast-cell depleting agent 48/80 significantly diminished @PHENOTYPICFEATURE$ formation, and Stat6(-/-) mice were fully protected from FITC-induced @DISEASE$, while DNFB-induced CHS was enhanced (Stat6(-/-), mast cell depletion) or not affected (anti-IL-5 antibody).	has_symptom
+4919d457705da41206882d251004364c273687f4	Pretreatment of mice with anti-IL-4 antibody, anti-IL-5 antibody, recombinant INF-gamma, or the mast-cell depleting agent 48/80 significantly diminished @PHENOTYPICFEATURE$ formation, and Stat6(-/-) mice were fully protected from FITC-induced CHS, while DNFB-induced @DISEASE$ was enhanced (Stat6(-/-), mast cell depletion) or not affected (anti-IL-5 antibody).	has_symptom
+ca153917280b269728a06a87878ea2f21ce91bd4	We found that an oral administration of porphyran (2% in drinking water) suppressed the @DISEASE$ reaction (ear @PHENOTYPICFEATURE$) induced by 2,4,6-trinitrochlorobenzene.	has_symptom
+17aa12c68d167ef9a2593eaff7070daaf5cbdc87	These results suggest that E2 enhances the expression of IFN-gamma, TNF-alpha, and IL-1beta to augment the @PHENOTYPICFEATURE$ of auricle dermis in mouse @DISEASE$.	has_symptom
+af6c4dbedbaae329dbbdfdeb7d34868b5475cf27	SPG11 mutations cause @DISEASE$, a hereditary spastic paraplegia with thin corpus callosum and central @PHENOTYPICFEATURE$.	has_symptom
+0d8dabb88bf56cb540729cd6827430bf5ab82886	@DISEASE$ is the most common and severe form of the childhood @PHENOTYPICFEATURE$.	has_symptom
+7bb5c6b71425ba70f8754ca70d32eb82af6ccb86	These include @DISEASE$ (DMD), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive @PHENOTYPICFEATURE$ with DMD-like phenotype prevalent in North Africa.	has_symptom
+deead55c781460dd4ba2d3613d648b00e633606b	These include Duchenne muscular dystrophy (@DISEASE$), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive @PHENOTYPICFEATURE$ with DMD-like phenotype prevalent in North Africa.	has_symptom
+2c278389ab858bab6d0cbc9a5f8cca757ba567bc	These include Duchenne muscular dystrophy (DMD), symptomatic @DISEASE$ carriers, Becker muscular dystrophy and severe childhood autosomal recessive @PHENOTYPICFEATURE$ with DMD-like phenotype prevalent in North Africa.	has_symptom
+e0e64faf69713e46d5ef9ea38570635bdb2ab6e2	These include Duchenne muscular dystrophy (DMD), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive @PHENOTYPICFEATURE$ with @DISEASE$-like phenotype prevalent in North Africa.	has_symptom
+ccccd6c92578fa72718ee1dbcbb2e66c643b020a	@DISEASE$ (DMD), the most common and severe form of @PHENOTYPICFEATURE$, is one such disorder that could benefit from this strategy.	has_symptom
+f7db0769878f6fd0083ac12787ee1e848a25b24e	Duchenne muscular dystrophy (@DISEASE$), the most common and severe form of @PHENOTYPICFEATURE$, is one such disorder that could benefit from this strategy.	has_symptom
+e4d5855897ab1754ed1aeb34204840625d7bf154	@DISEASE$ (DMD) is the most frequent inherited form of @PHENOTYPICFEATURE$ during childhood.	has_symptom
+5fbc5f6c284c6d2a8c38950f0d3bc0a79fcdee46	Duchenne muscular dystrophy (@DISEASE$) is the most frequent inherited form of @PHENOTYPICFEATURE$ during childhood.	has_symptom
+74378afabb883945facfb3bff88d353216454324	@DISEASE$ (DMD), the commonest form of @PHENOTYPICFEATURE$, is caused by lack of dystrophin.	has_symptom
+c2c4326f647365fe2fc175e4b4bc4675f0d756b6	Duchenne muscular dystrophy (@DISEASE$), the commonest form of @PHENOTYPICFEATURE$, is caused by lack of dystrophin.	has_symptom
+81389112e9da1c89b3bf52a9541beae22d95b5ac	Duchenne muscular dystrophy (@DISEASE$), the most common and severe @PHENOTYPICFEATURE$, is caused by the absence of dystrophin.	has_symptom
+a810135f6b548a8d76749dbe1fb8de9c17344511	@DISEASE$ (DMD), the most common and severe @PHENOTYPICFEATURE$, is caused by the absence of dystrophin.	has_symptom
+c389cfd69885e054f246f44d37fa6ebae2ad786d	Cardiac involvement in Fukuyama @PHENOTYPICFEATURE$ is less severe than in @DISEASE$.	has_symptom
+a8a3998c21262ea3ff113f951f756ef6b38fae4a	Duchenne muscular dystrophy (@DISEASE$) is the most common form of @PHENOTYPICFEATURE$ during childhood.	has_symptom
+e429a6eecd1898ec2bcc09abf9017d16d0197a33	@DISEASE$ (DMD) is the most common form of @PHENOTYPICFEATURE$ during childhood.	has_symptom
+e4d5855897ab1754ed1aeb34204840625d7bf154	@DISEASE$ (DMD) is the most frequent inherited form of @PHENOTYPICFEATURE$ during childhood.	has_symptom
+5fbc5f6c284c6d2a8c38950f0d3bc0a79fcdee46	Duchenne muscular dystrophy (@DISEASE$) is the most frequent inherited form of @PHENOTYPICFEATURE$ during childhood.	has_symptom
+f897a35c9886bf6c39b4538aa2a1c21c5cc36df4	@DISEASE$ is is the most common form of the childhood @PHENOTYPICFEATURE$.	has_symptom
+162803e2a8457ba81464db18bc7b4f66b5b20b6f	Among the best known are HIV/AIDS, peptic ulcer caused by Helicobacter pylori, Legionnaires' disease, borreliosis (Lyme disease), @PHENOTYPICFEATURE$ C, gastroenteritis caused by rotavirus, and @DISEASE$ haemorrhagic fever.	has_symptom
+e8a56e613831b8e319bc6184181bb043e4a466dc	The threat of emerging infectious diseases including @DISEASE$, pandemic influenza, avian influenza, Hepatitis B, @PHENOTYPICFEATURE$ C, and SARS has highlighted the need for effective personal protective equipment (PPE) to protect healthcare workers (HCWs), patients, and visitors.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7d1367423bcbd5aadce7d67a8fc2811a570759f9	Potentially lethal @PHENOTYPICFEATURE$, occurring at presentation or during hospitalization, are a part of the clinical spectrum of @DISEASE$.	has_symptom
+12d44f43674fa7282e5d80c22f26b14ee96ff1d8	High-grade aneurysmal subarachnoid hemorrhage patients are monitored in the ICU for up to 21 days, as they are at risk for complications such as vasospasm of cerebral arteries, @PHENOTYPICFEATURE$ and neurogenic @DISEASE$.	has_symptom
+a1f20787953957f04023b6ea322ec44cde2298eb	Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, @DISEASE$, unstable angina, stable angina, non cardiac chest pain, @PHENOTYPICFEATURE$ and others.	has_symptom
+c72ac301c471d1445f8aea9cc4dfdad8a0b490a5	Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, stress cardiomyopathy, unstable angina, stable angina, non cardiac @PHENOTYPICFEATURE$, @DISEASE$ and others.	false
+c9b4706ff3f322d4257118c9d029d1c353d1b3e7	Patients were categorised based on diagnosis: ST elevation myocardial infarction, Non ST elevation myocardial infarction, @DISEASE$, unstable angina, stable angina, non cardiac @PHENOTYPICFEATURE$, arrhythmia and others.	false
+2e86c56c18b2325642230cd8a29a7a11080fa641	Tako Tsubo or "@DISEASE$ and its variants are well recognised as potential causes of acute coronary presentations, with manifestations including chest pain, cardiac failure and @PHENOTYPICFEATURE$.	has_symptom
+62d73077c8809d2c449692217c4541888589f3aa	Tako Tsubo or "@DISEASE$ and its variants are well recognised as potential causes of acute coronary presentations, with manifestations including chest pain, @PHENOTYPICFEATURE$ and arrhythmia.	false
+fcabe6b1a56558e1a26935e0ca6d8382cd2cd5c0	Tako Tsubo or "stress" cardiomyopathy and its variants are well recognised as potential causes of acute coronary presentations, with manifestations including chest pain, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8eb99a095398b03d6bb62b79f037cddd84c9b3a4	We studied 1273 patients (mean age, 68?years), among whom 46% had acute coronary syndromes, 38% had acute decompensated heart failure, 5% had @PHENOTYPICFEATURE$, 3% had pulmonary hypertension, 2% had acute aortic syndrome, 2% had infective endocarditis, and 1% had @DISEASE$.	has_symptom
+47a0c50bf88998d1dc35db711c33e38b7600a8e9	We studied 1273 patients (mean age, 68?years), among whom 46% had acute coronary syndromes, 38% had acute decompensated @PHENOTYPICFEATURE$, 5% had arrhythmia, 3% had pulmonary hypertension, 2% had acute aortic syndrome, 2% had infective endocarditis, and 1% had @DISEASE$.	false
+0436ee11f9b387320a9a897518102498f71ef333	We studied 1273 patients (mean age, 68?years), among whom 46% had acute coronary syndromes, 38% had acute decompensated @PHENOTYPICFEATURE$, 5% had @DISEASE$, 3% had pulmonary hypertension, 2% had acute aortic syndrome, 2% had infective endocarditis, and 1% had Takotsubo cardiomyopathy.	false
+aac30be8366ce50e7a1379a658cb62e157b39885	Prolongation of QT interval, a risk factor for @PHENOTYPICFEATURE$ and sudden death, has been reported to be prevalent among patients with @DISEASE$ and is also observed in those with severe anorexia nervosa.	has_symptom
+fd56ddbe2839092d4ef0651bca81bd4fdff4eb5b	A case of malignant @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+cc976329937d30761cd3350fc31bb5d95dcf050b	This can take the form of, variously, @PHENOTYPICFEATURE$, myocardial infarction, @DISEASE$ and sudden death.	has_symptom
+fc02b7bf82be84ab5ee28a7d13cec044aed1d1db	The cardiac complications have been reported to be QT prolongation, torsade de pointes, coronary artery disease, @PHENOTYPICFEATURE$, @DISEASE$ and death.	has_symptom
+a6d5aa93910c464c097776603c95cf74a535f580	Identification of WASP mutations in patients with @DISEASE$ and isolated @PHENOTYPICFEATURE$ reveals allelic heterogeneity at the WAS locus.	has_symptom
+f9e2de6c7e6dab107f8d90bac02d06a89c155aea	Canavan's @DISEASE$ is associated with defects in cochlear neurodevelopment and @PHENOTYPICFEATURE$.	has_symptom
+2fdb86f4fb9bc20c1b4b411e483dc7396866db00	pathogenic variants as gene defects that may underlie @PHENOTYPICFEATURE$, ovarian failure, and @DISEASE$ with mitochondrial signature.	has_symptom
+2fc0671c0dbbd7121c7b7774d5f81b06c6f45aa7	The patient presented psychomotor regression, late-onset @DISEASE$, peripheral neuropathy, @PHENOTYPICFEATURE$, a renal cyst, and renal hypertension and survived until the age of 36.	has_symptom
+6ca3bd4de8b6c5acc0ade974ccc172893e1e2c75	The patient presented psychomotor regression, late-onset leukodystrophy, @PHENOTYPICFEATURE$, hearing impairment, a renal cyst, and @DISEASE$ and survived until the age of 36.	false
+5c2cfb0289b326e13582293392637de6a9d0e5c1	The patient presented psychomotor regression, late-onset leukodystrophy, peripheral neuropathy, @DISEASE$, a @PHENOTYPICFEATURE$, and renal hypertension and survived until the age of 36.	false
+6ec1cc6b0024cb65ea747f16819228dcac77686f	The patient presented psychomotor regression, late-onset leukodystrophy, @PHENOTYPICFEATURE$, @DISEASE$, a renal cyst, and renal hypertension and survived until the age of 36.	false
+90e966996fbc732c7002412bf930e460cfd2f7f2	The patient presented psychomotor regression, late-onset @DISEASE$, peripheral neuropathy, hearing impairment, a @PHENOTYPICFEATURE$, and renal hypertension and survived until the age of 36.	false
+5c933060e9d3a303db34d8dd23b6655bb4c32b55	The patient presented psychomotor regression, late-onset @DISEASE$, @PHENOTYPICFEATURE$, hearing impairment, a renal cyst, and renal hypertension and survived until the age of 36.	false
+84474d9b5d982a45b9d487b35d79568b4f1e88e5	The patient presented psychomotor regression, late-onset leukodystrophy, peripheral neuropathy, hearing impairment, a @PHENOTYPICFEATURE$, and @DISEASE$ and survived until the age of 36.	false
+ed1777fc39699f85126a942db7f71226b966059e	cause @PHENOTYPICFEATURE$ and (ovario)@DISEASE$.	has_symptom
+ed1777fc39699f85126a942db7f71226b966059e	cause @PHENOTYPICFEATURE$ and (ovario)@DISEASE$.	has_symptom
+79dec35e56c14acc830344baedc883e148a308fc	In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+7c927fa305b712b0bcfb7a16598d51ca6ec9cbb8	In the current study, we described a patient with psychomotor and @PHENOTYPICFEATURE$, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, @DISEASE$, and congenital deafness.	false
+1c36d2f5d19eebe0cea8f492e4211932176ea145	In the current study, we described a patient with psychomotor and @PHENOTYPICFEATURE$, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and @DISEASE$.	false
+4f0a50511922bfe14ebabfaa9cc01fb2b6292fd1	These pathologies include neurodegeneration, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	has_symptom
+6d233ec5b2e6aa37a24fa1e52a80dc26a993e425	These pathologies include neurodegeneration, @DISEASE$, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+538f2538fe33c10757a0548a79a086f7cff50165	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, @DISEASE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+cde4a5ac1a5a9a5b1c7238b2892badc8bd62f03d	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, @DISEASE$, kidney stones, male infertility, and osteopetrosis.	false
+0724d68e28e204c63f3a6bd786e4b9aa9704a4a2	These pathologies include neurodegeneration, leukodystrophy, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+826aea7868933ce0a03e254c922e58c8992c19ff	These pathologies include neurodegeneration, @DISEASE$, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+6c2d072f78cf252abadc6d49b607e4d019ed56fb	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, @DISEASE$, and osteopetrosis.	false
+abde0e844aa67a5f4acd141b69621698323776cf	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, @DISEASE$, kidney stones, male infertility, and osteopetrosis.	false
+c4cc45f1a3c743ca86686e128f213e3463cd62ca	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, @DISEASE$, and osteopetrosis.	false
+439641eace48622e823d04cd0a32c3237b6364b3	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+159faac1ef902a12bd9fb134678a1da411612176	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+d272d5669674a20528858c3f9d75cdda05b1848a	Sudanophilic cavitating @DISEASE$ is an unusual disorder of the cerebral white matter, clinically characterized by @PHENOTYPICFEATURE$, mental retardation, behavioural alterations and lesions of the descending long tracts.	has_symptom
+45542ae3bf045e12b55ec528275fa8298a3b94df	Sudanophilic cavitating leukodystrophy is an unusual disorder of the cerebral white matter, clinically characterized by @DISEASE$, @PHENOTYPICFEATURE$, behavioural alterations and lesions of the descending long tracts.	false
+9b1eb9a5f25b4aa51127607f20d4019c0dcdd893	Sudanophilic cavitating @DISEASE$ is an unusual disorder of the cerebral white matter, clinically characterized by deafness, @PHENOTYPICFEATURE$, behavioural alterations and lesions of the descending long tracts.	false
+bae0c2d136c28ac4557c78d254643042ade376fe	Ataxia, @PHENOTYPICFEATURE$, @DISEASE$: inherited disorder of the white matter in three related patients.	has_symptom
+a4a50d4de8585da0c6cd2dd8eea865ec5056571d	We report two sisters (32 and 36 years old) with familial @PHENOTYPICFEATURE$-mutism, progressive external ophthalmoplegia, @DISEASE$ and mitochondrial myopathy.	has_symptom
+743ed4294fd7558e017d13c76199686ecc1c4ee4	@DISEASE$ is characterized by continuous partial seizures with progressive neurological/@PHENOTYPICFEATURE$.	has_symptom
+bba94d0955434ba52bfc1cc63788e52936ee8dd7	We here describe two patients who presented with severe @PHENOTYPICFEATURE$ and anemia combined with neutropenia several years after roux-en-Y gastric bypass (RYGB) surgery for obesity who were found to be severely @DISEASE$ deficient.	has_symptom
+aa1d92d15c4d9f05924572048feac5c823a882ff	We here describe two patients who presented with severe gait abnormalities and anemia combined with @DISEASE$ several years after roux-en-Y gastric bypass (RYGB) surgery for @PHENOTYPICFEATURE$ who were found to be severely copper deficient.	false
+d7a4a92a3087c36b34eb381ea199a7085293569b	We here describe two patients who presented with severe @DISEASE$ and anemia combined with neutropenia several years after roux-en-Y gastric bypass (RYGB) surgery for @PHENOTYPICFEATURE$ who were found to be severely copper deficient.	false
+7730ba153eb6b63900811fe4b78ec491aea5fac0	We here describe two patients who presented with severe gait abnormalities and anemia combined with neutropenia several years after roux-en-Y gastric bypass (RYGB) surgery for @PHENOTYPICFEATURE$ who were found to be severely @DISEASE$ deficient.	false
+85324133bc224ed802e522bdcd6183af6f4284ed	We here describe two patients who presented with severe gait abnormalities and @DISEASE$ combined with neutropenia several years after roux-en-Y gastric bypass (RYGB) surgery for @PHENOTYPICFEATURE$ who were found to be severely copper deficient.	false
+8426de2654c3b534e85c95b741f140fe95e4fae2	The most common forms of PIDs, such as humoral immunity defects, common variable @PHENOTYPICFEATURE$, @DISEASE$, selective IgA deficiency, etc., are milder than other forms of PID, enabling patients to attain their adult age, and may even manifest in adulthood.	has_symptom
+7a18e261a704c95e85d27ac32d61a7ff55bafa26	Injuries are predominantly pulmonary and range from cough and dyspnea to chemical pneumonitis, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+8e7d2651bcfda5b62f07b8d08a629eb909569ad2	@DISEASE$ (ARDS) is a non-cardiogenic @PHENOTYPICFEATURE$ of various etiologies.	has_symptom
+268089d824328d2db0ae0f4306615ae1acc93f2d	Associated complications included @PHENOTYPICFEATURE$, @DISEASE$, disseminated intravascular coagulation, pulmonary emboli, and cardiac arrest.	has_symptom
+1cb51ccb13f15a35af432451e6b2ca928aa5efe1	The postoperative course was complicated by @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7de61eb798102e7084986a080e99d5d3a983b660	Two patients developed @PHENOTYPICFEATURE$ that progressed to @DISEASE$.	has_symptom
+999b4eb4aa865eabe74427ff3cda436982cfa7aa	The @DISEASE$ is an acute clinical illness characterized by noncardiogenic @PHENOTYPICFEATURE$ and refractory hypoxemia.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+a817e91c329f326332e0901191234762602b7a29	Tracheobronchitis, chemical @PHENOTYPICFEATURE$, and @DISEASE$ (ARDS) resulted from direct injury.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+d93182d8b29db3bd0a3ea607eac9b00743f7ba4d	Hundreds of L1CAM gene mutations have been shown to be associated with @DISEASE$, severe @PHENOTYPICFEATURE$, aphasia, and motor symptoms.	has_symptom
+25072189ae6d5803644ae25fdd76ce3abe7484bc	Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, @PHENOTYPICFEATURE$, and disequilibrium syndrome 2, cause severe @DISEASE$.	has_symptom
+c58804c3d05ba81dfa4e795ef6cdeac040ffb9d2	Similarly, we show that recessive mutations in WDR81, previously linked to @PHENOTYPICFEATURE$, @DISEASE$, and disequilibrium syndrome 2, cause severe congenital hydrocephalus.	false
+c66c29be642f2b5bf5bc9bb9b4866ead5fced28d	Similarly, we show that recessive mutations in WDR81, previously linked to @PHENOTYPICFEATURE$, mental retardation, and disequilibrium syndrome 2, cause severe @DISEASE$.	false
+6eaf88d85a26e70f1958ffe1547f2367ea4c852c	Similarly, we show that recessive mutations in WDR81, previously linked to @PHENOTYPICFEATURE$, mental retardation, and disequilibrium @DISEASE$ 2, cause severe congenital hydrocephalus.	false
+56d9d6c291688945ec580c9b6db47c3a90bd764e	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, @DISEASE$, intracranial neoplasms, and @PHENOTYPICFEATURE$.	has_symptom
+232bb09c6aa5d697c47520572390401f22c4abd4	Neurologic involvement in @DISEASE$ includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial neoplasms, and mental retardation.	false
+6ad0bb4fac6c6906f79cc22f89f7fd05955289ea	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial @DISEASE$, and mental retardation.	false
+0a9fa7f45e3125d7ec37c4277512b3c44861a38b	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2fc848f589291eb3920541db3bb82a380a533eaa	Neurologic involvement in @DISEASE$ includes intracranial calcification, congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+81c7337396ff43696832fcfb24785dffefd60507	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial neoplasms, and @DISEASE$.	false
+f1b75605004f9a465ba7a40d8a8cab6dbdc206df	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, @DISEASE$, intracranial neoplasms, and mental retardation.	false
+b5e7ebabaed0fc0dbf6a008f31a2806d9447691d	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, @DISEASE$, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+642989a5d6e1e4ad0338ab1d6cfba942466b56ce	Two male patients from one family are reported, who are affected with @DISEASE$, @PHENOTYPICFEATURE$, short stature, obesity and hypogenitalism.	has_symptom
+4ffe5df56176faf0caabe6c45bb42d8ab5d8fb4d	Two male patients from one family are reported, who are affected with congenital hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$, obesity and hypogenitalism.	false
+d3ba9433c68deef17c86cb7a89429fd528bf802d	Two male patients from one family are reported, who are affected with @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, obesity and hypogenitalism.	false
+2ca323ae294220d9359bc054296b655b7a46fde0	Two male patients from one family are reported, who are affected with congenital hydrocephalus, @DISEASE$, short stature, @PHENOTYPICFEATURE$ and hypogenitalism.	false
+54386055725c64e8da1c555221e4be9db7f0af82	Two male patients from one family are reported, who are affected with @DISEASE$, mental retardation, short stature, @PHENOTYPICFEATURE$ and hypogenitalism.	false
+0d75fa87766c801a45f76b71158143b00afa7911	Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including @DISEASE$, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and @PHENOTYPICFEATURE$.	has_symptom
+142b145c16607891d9ab52af661e164289ecd21c	Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, @PHENOTYPICFEATURE$, spastic paraplegia, bilaterally adducted thumbs, aphasia, and @DISEASE$.	false
+41b8923c109767c977cfe2cf6dbe157487e56f95	Mutations in the L1CAM gene cause @PHENOTYPICFEATURE$ of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and @DISEASE$.	false
+84681678434153d977325c88851a1568cd1ab1de	Mutations in the L1CAM gene cause @PHENOTYPICFEATURE$ of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic @DISEASE$, bilaterally adducted thumbs, aphasia, and mental retardation.	false
+b0eb993375f254aebf08ca64fcd58627f36841f2	Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including @DISEASE$, @PHENOTYPICFEATURE$, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation.	false
+3c6e2093a25ab68bbad835a92a080c11d5a1f5c5	Mutations in the L1CAM gene cause @PHENOTYPICFEATURE$ of variable severity, including @DISEASE$, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation.	false
+da354ad052d453beefc0581b1e2452f75925f1bd	Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, @PHENOTYPICFEATURE$, spastic @DISEASE$, bilaterally adducted thumbs, aphasia, and mental retardation.	false
+4175f2cd4fd24063b42307870b8c7adbf324ac98	A case of @DISEASE$ with @PHENOTYPICFEATURE$ also showed the prolonged latencies of R2 and R'2 in neonatal period.	has_symptom
+bd278ccc6f7368db355c0e35690a505aaed579a1	L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with @PHENOTYPICFEATURE$ and @DISEASE$ in males.	has_symptom
+12a50e1b10c39d39e22535e1008b5378425c0053	Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: @DISEASE$; @PHENOTYPICFEATURE$, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum.	has_symptom
+3e3b5a3520c86d52334191310c6d35b25764345d	Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) @DISEASE$; spastic paraplegia; and @PHENOTYPICFEATURE$.	false
+e590ec509c74074806b60ae17743750da26a3b2d	Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; @DISEASE$, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and @PHENOTYPICFEATURE$.	false
+b5f39e2af3a09ff2a7445928bf04826ae1f6a223	Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: @DISEASE$; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and @PHENOTYPICFEATURE$.	false
+f881159eaa9f288d01d08b880b6fe1586875a50b	Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic @DISEASE$; and @PHENOTYPICFEATURE$.	false
+3ed9b9beb72a9286d69d6e47c36ede150d85c281	Mutations in the L1CAM gene have been identified in the following various X-linked @DISEASE$: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and @PHENOTYPICFEATURE$.	false
+dd82c5a3bc422642a66d08cdbc965b087782bc30	Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (@DISEASE$) syndrome; spastic paraplegia; and @PHENOTYPICFEATURE$.	false
+3c1ca519849a2c5120118014b544ec53169df88e	We report on a 16-year-old female patient with severe @PHENOTYPICFEATURE$, @DISEASE$, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs.	has_symptom
+52dfa62dae9d7e8c69d284f5d54df89ae338a5bc	We report on a 16-year-old female patient with severe @DISEASE$, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and @PHENOTYPICFEATURE$ signs.	false
+4221e1d7fda3b4621116510d8140df05d27da5a2	We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs.	false
+a3cac5a87f20f5e95c43fb608316547bcbf2a616	We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, @DISEASE$, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, @PHENOTYPICFEATURE$, dystrophy, and facial dysmorphic signs.	false
+b5f3fe6c1bf4a48b65114cdc55dcf1d37a60fa6c	We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, @DISEASE$, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and @PHENOTYPICFEATURE$ signs.	false
+78363d84c38b2a5a5c7a97a16ab9955e48e60975	We report on a 16-year-old female patient with severe @DISEASE$, congenital hydrocephalus, cleft lip and palate, @PHENOTYPICFEATURE$, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs.	false
+909d092de52092b416dbe81f89c6a5f5936e6853	We report on a 16-year-old female patient with severe @DISEASE$, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, @PHENOTYPICFEATURE$, dystrophy, and facial dysmorphic signs.	false
+1cc9582788261250f16a5790efb11384aaa77370	We report on a 16-year-old female patient with severe intellectual disability, @DISEASE$, cleft lip and palate, @PHENOTYPICFEATURE$, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs.	false
+175df3da84e193e6018972376e6178f34f72a0cb	We report on a 16-year-old female patient with severe intellectual disability, @DISEASE$, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and @PHENOTYPICFEATURE$ signs.	false
+5e51807e38b461e39792c97b753558cf056139e4	We report on a 16-year-old female patient with severe intellectual disability, @DISEASE$, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, @PHENOTYPICFEATURE$, dystrophy, and facial dysmorphic signs.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0ae2af34475aa91c0654d2e85cc1e5cad90886eb	A boy with a negative family history presented polyuria and @PHENOTYPICFEATURE$ in the first months of life and was diagnosed with @DISEASE$.	has_symptom
+40a167f2083b31b21e47890e20d36f6ba13da239	We report two unrelated female patients aged 2- and 15-years-old with short stature, @PHENOTYPICFEATURE$ and craniofacial anomalies consistent with the @DISEASE$.	has_symptom
+ee675fc3094ea39a66af275f8fb2cc306ecc8a3d	We report two unrelated female patients aged 2- and 15-years-old with @PHENOTYPICFEATURE$, language delay and craniofacial anomalies consistent with the @DISEASE$.	false
+a89a82871d6495622cc16d9241550c7d11b6640b	We report two unrelated female patients aged 2- and 15-years-old with @PHENOTYPICFEATURE$, @DISEASE$ and craniofacial anomalies consistent with the Floating-Harbor syndrome.	false
+f008daec4c9cecb581eb1561649165c0d972f5c4	The @DISEASE$ is a growth deficiency syndrome characterized by proportionate short stature, characteristic face and @PHENOTYPICFEATURE$.	has_symptom
+5ffa4fe6226c987c6c47a1d8f2cd3edfc149f3ab	The Floating Harbor syndrome is a growth deficiency @DISEASE$ characterized by @PHENOTYPICFEATURE$, characteristic face and delayed speech development.	false
+a3c2a3f80d75424229602721e4b683b98762b568	The Floating Harbor syndrome is a growth deficiency syndrome characterized by @PHENOTYPICFEATURE$, characteristic face and @DISEASE$.	false
+d5f516edb9696f02b9d0d1ab3e886a88937bde42	The @DISEASE$ is a growth deficiency syndrome characterized by @PHENOTYPICFEATURE$, characteristic face and delayed speech development.	false
+df153eed436ccd3afdde5995d772483663901ae6	@DISEASE$ (FHS) is a rare autosomal dominant disorder characterized by short stature, skeletal malformations, @PHENOTYPICFEATURE$, and dysmorphic facial appearance.	has_symptom
+74c270b431729b912acde7763c62e25c61cc741a	Floating-Harbor syndrome (FHS) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, skeletal malformations, @DISEASE$, and dysmorphic facial appearance.	false
+81485be6f9c8119ae9c365dd8a895578d8e56117	Floating-Harbor syndrome (FHS) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, skeletal malformations, speech delay, and dysmorphic @DISEASE$ appearance.	false
+c1d7f97ab7954bb4609ae9ae2a2d3a7325898b5f	@DISEASE$ (FHS) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, skeletal malformations, speech delay, and dysmorphic facial appearance.	false
+d95a9a9ea6a702494e9a0efde42bf6ef6f808a85	A triad of main features characterizes @DISEASE$: short stature, characteristic face, and an expressive @PHENOTYPICFEATURE$.	has_symptom
+733895d4c07eacc623d554d8d0e5a0f308012d95	A triad of main features characterizes Floating-Harbor syndrome: @PHENOTYPICFEATURE$, characteristic face, and an expressive @DISEASE$.	false
+7530f6be4bb08b5c59e7baf4b1c7ca5b0507a37d	A triad of main features characterizes @DISEASE$: @PHENOTYPICFEATURE$, characteristic face, and an expressive speech delay.	false
+8ec71664bfabc7c348295de45c419f9fe366cdc3	We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with delayed bone age and @PHENOTYPICFEATURE$) suggesting the diagnosis of @DISEASE$ (FHS).	has_symptom
+b36c8b095cf2066d76946809cefddf3e7b523b4b	We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with @PHENOTYPICFEATURE$ and speech delay) suggesting the diagnosis of @DISEASE$ (FHS).	false
+c8231b9a16079da567b3833a10d57511b35cf4fd	We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, @PHENOTYPICFEATURE$ with delayed bone age and @DISEASE$) suggesting the diagnosis of Floating-Harbor syndrome (FHS).	false
+caaffe1e2e8d4dc1b37bd477a75d2020d8624ad1	We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, short stature with @PHENOTYPICFEATURE$ and @DISEASE$) suggesting the diagnosis of Floating-Harbor syndrome (FHS).	false
+e1e735a1057f8e1b0e950bfa6be753452deb6560	We present a 9.1-year-old girl of Calabrian (Italy) ancestry, with clinical features (cranio-facial dysmorphism, @PHENOTYPICFEATURE$ with delayed bone age and speech delay) suggesting the diagnosis of @DISEASE$ (FHS).	false
+e97fba3a2a9751f1aefd8f3375675264a129bcae	@DISEASE$ (FHS) is a rare disorder characterized by short stature, delayed bone age, @PHENOTYPICFEATURE$, and dysmorphic facial features.	has_symptom
+6eae6665502cd4f28192228750ac89ac8a4a53c4	Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic facial features.	false
+8a25b860ae98e2ef60e31d2eb328b5814cedce7d	Floating-Harbor syndrome (FHS) is a rare disorder characterized by @PHENOTYPICFEATURE$, delayed bone age, @DISEASE$, and dysmorphic facial features.	false
+9be030f6a583a49b3a5dfee81d2470b7ecc126f9	@DISEASE$ (FHS) is a rare disorder characterized by @PHENOTYPICFEATURE$, delayed bone age, speech delay, and dysmorphic facial features.	false
+062ee60d051eca6a780304bce761e2c060557b75	@DISEASE$ (FHS) is a rare disorder characterized by short stature, @PHENOTYPICFEATURE$, speech delay, and dysmorphic facial features.	false
+0de60ee30462b2edafd139dee52467cc0ccb2314	Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, @PHENOTYPICFEATURE$, speech delay, and dysmorphic @DISEASE$ features.	false
+7a49cdcfbc68ce62574d3521dcb65ed1975cc84f	Floating-Harbor syndrome (FHS) is a rare disorder characterized by @PHENOTYPICFEATURE$, delayed bone age, speech delay, and dysmorphic @DISEASE$ features.	false
+e1873e530b33026241a20572d32ffb1c49768e98	@DISEASE$, a genetic disorder of unknown etiology, was diagnosed in a 9-year-old girl with delayed morphologic, bone and dental age, lateral asymmetry of the body, triangular face, hypotelorism, broad palpepral fissures, long eye-lashes, narrow jaw, retrogenia, a defect of phonemic audition and @PHENOTYPICFEATURE$ with poor articulation.	has_symptom
+febfd16d23a28d5f7479b8758b6fd628bd765c4f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	has_symptom
+767c3e38a2af5bd99373bea0e19690ac6d775898	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+fe997a6d515c8c896933925210aab2150537788a	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+7a6d5d218e5cf058ee68fcac902913f8953d824f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	false
+311a34a3142ccd723adafe90432fa8c4f35394e8	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @DISEASE$, @PHENOTYPICFEATURE$, and movement disorder.	false
+ecfb2e16cab1da5c0b78ca05dc7b924af335c6b8	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+63b6304f27263264ffd44a145ec9cd352c7db67d	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and movement disorder.	false
+f73ba84e87ae6969be46e1437575c9b104b823c1	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	false
+5701b3ec780635c39330847d6fcc331905476165	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+b7ebde41fc73089d6ea62d40ee3885ac9af88fa1	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+af6f5109e140d28fac82924897a746348205fab0	EPM1 (epilepsy, progressive @PHENOTYPICFEATURE$ 1; @DISEASE$, OMIM #254800) is the most frequent form of progressive myoclonus epilepsy.	has_symptom
+90f0b94903928dfa87af9ffc21e5983698f9a650	EPM1 (epilepsy, progressive myoclonic 1; @DISEASE$, OMIM #254800) is the most frequent form of progressive @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+490117a2e5f40f2e710c7c4e6e93ce3b407936f2	Progressive @PHENOTYPICFEATURE$ epilepsy (PME) has a number of causes, of which Unverricht-Lundborg disease (@DISEASE$) is the most common.	has_symptom
+00d5a34a23ab0d57c098df4c17221de9a03eaea7	Progressive @PHENOTYPICFEATURE$ epilepsy (PME) has a number of causes, of which @DISEASE$ (ULD) is the most common.	has_symptom
+692b789c8d69c942794f69214cdca1e301762520	LOMEDS apparently shares features with @PHENOTYPICFEATURE$ epilepsy in Alzheimer's disease (AD) and @DISEASE$ (ULD) caused by a mutation on chromosome 21.	has_symptom
+609874db66b26de5664f712f60de3782065b2a4b	LOMEDS apparently shares features with @PHENOTYPICFEATURE$ epilepsy in Alzheimer's disease (AD) and Unverricht-Lundborg disease (@DISEASE$) caused by a mutation on chromosome 21.	has_symptom
+fbac90b33b021d85d697eb3835339f554fce1ef8	Difficult differential diagnosis of @DISEASE$ with spontaneous kinesogenic @PHENOTYPICFEATURE$ and movement disorder.	has_symptom
+2661dfd0f09bab8421caa7f44399d0a4ba06883a	Difficult differential diagnosis of Unverricht-Lundborg disease with spontaneous kinesogenic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a5e518d5059140423914440820689f99fbc46809	Difficult differential diagnosis of @DISEASE$ with spontaneous kinesogenic myoclonus and @PHENOTYPICFEATURE$.	false
+692b789c8d69c942794f69214cdca1e301762520	LOMEDS apparently shares features with @PHENOTYPICFEATURE$ epilepsy in Alzheimer's disease (AD) and @DISEASE$ (ULD) caused by a mutation on chromosome 21.	has_symptom
+609874db66b26de5664f712f60de3782065b2a4b	LOMEDS apparently shares features with @PHENOTYPICFEATURE$ epilepsy in Alzheimer's disease (AD) and Unverricht-Lundborg disease (@DISEASE$) caused by a mutation on chromosome 21.	has_symptom
+f3259e5600e5f46a5806cd130e0380f7fe0fb621	@DISEASE$ is the most common form of progressive @PHENOTYPICFEATURE$ epilepsies.	has_symptom
+add5e71d4e1ba4231650fe372d8f77c92ef9bf6f	@DISEASE$ (EPM1) is an inherited neurodegenerative disorder, and the most common form of progressive @PHENOTYPICFEATURE$ epilepsies.	has_symptom
+53954e82f7e916e466fc20643bcea403d09b15df	We studied 4 patients with progressive @PHENOTYPICFEATURE$ epilepsy (Unverricht-Lundborg disease; @DISEASE$).	has_symptom
+5cc8def925d781f5636f4c5f13c28b1c19571476	We studied 4 patients with progressive @PHENOTYPICFEATURE$ epilepsy (@DISEASE$; ULD).	has_symptom
+4d2b9020d3149d32e2f1f548a18b89ac62f52bf2	@DISEASE$ (ULD) is the most frequent form of progressive @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+aa8ceb64984dbb575acaf8f19d89f8980afa802c	Unverricht-Lundborg disease (@DISEASE$) is the most frequent form of progressive @PHENOTYPICFEATURE$ epilepsy.	has_symptom
+c8ce236a68f8689c7d3de15a46f06f9be9680973	Unverricht-Lundborg disease (@DISEASE$), and @PHENOTYPICFEATURE$ epilepsy and ragged-red fibres (MERRF).	has_symptom
+0fd21197424cb0ddf2945499ff628c15e3525d48	@DISEASE$ (ULD), and @PHENOTYPICFEATURE$ epilepsy and ragged-red fibres (MERRF).	has_symptom
+1c0c4d7ba69266bd063fb27fe1f2ef35dafe709d	It is crucial for the otolaryngologist to have awareness of @DISEASE$ syndrome and other mitochondrial encephalomyopathies when patients present with @PHENOTYPICFEATURE$ (SNHL).	has_symptom
+8abc31e026dad6628ae5214c9196b81b6ab2afc4	@DISEASE$, also referred to as functional movement disorders, describe a group of disorders that includes tremor, dystonia, myoclonus, parkinsonism, speech and @PHENOTYPICFEATURE$, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	has_symptom
+9dc74ad8bddc7463ff831296fbd0e80bb8c3ea40	@DISEASE$, also referred to as functional @PHENOTYPICFEATURE$, describe a group of disorders that includes tremor, dystonia, myoclonus, parkinsonism, speech and gait disturbances, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+c21ab7212cc3f41e179e5aa26b333622b0b83019	Psychogenic movement disorders, also referred to as functional movement disorders, describe a group of disorders that includes tremor, @DISEASE$, myoclonus, parkinsonism, speech and gait disturbances, and other @PHENOTYPICFEATURE$ that are incongruent with patterns of pathophysiologic (organic) disease.	false
+674d17f67a3c9bb84d9d3f3b19c4da422b8201eb	Psychogenic movement disorders, also referred to as functional @PHENOTYPICFEATURE$, describe a group of disorders that includes tremor, dystonia, myoclonus, parkinsonism, speech and @DISEASE$, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+86e8431c86880797ce5de09fa3e9ea878f4b8fde	Psychogenic movement disorders, also referred to as functional movement disorders, describe a group of disorders that includes tremor, dystonia, myoclonus, parkinsonism, speech and @DISEASE$, and other @PHENOTYPICFEATURE$ that are incongruent with patterns of pathophysiologic (organic) disease.	false
+554327800dac3d9cb0b527d6b7cc882949df21a9	Psychogenic movement disorders, also referred to as functional movement disorders, describe a group of disorders that includes tremor, @DISEASE$, @PHENOTYPICFEATURE$, parkinsonism, speech and gait disturbances, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+05071169a8057b03b000ab10bb9fe98ef589b666	@DISEASE$, also referred to as functional movement disorders, describe a group of disorders that includes tremor, dystonia, @PHENOTYPICFEATURE$, parkinsonism, speech and gait disturbances, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+6e0c922d05ebdd35a62de23703fdec88c1e7d451	Psychogenic movement disorders, also referred to as functional @PHENOTYPICFEATURE$, describe a group of disorders that includes tremor, @DISEASE$, myoclonus, parkinsonism, speech and gait disturbances, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+4120d4a89bfea128662d555467234dac0f026d79	@DISEASE$, also referred to as functional movement disorders, describe a group of disorders that includes tremor, dystonia, myoclonus, parkinsonism, speech and gait disturbances, and other @PHENOTYPICFEATURE$ that are incongruent with patterns of pathophysiologic (organic) disease.	false
+17fe0b766a30125976baacefc584e218e9931e1b	Psychogenic movement disorders, also referred to as functional movement disorders, describe a group of disorders that includes tremor, dystonia, @PHENOTYPICFEATURE$, parkinsonism, speech and @DISEASE$, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+2f47171621eb5677ab601a9f1e0451ac56468028	She has neither the @PHENOTYPICFEATURE$ nor the mental deficit usually associated with the @DISEASE$.	has_symptom
+aee6ce6a6c9e0606a89917a8420a7dde8d9a3c4a	The family members show features common to @DISEASE$ such as mental retardation, multiple @PHENOTYPICFEATURE$, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	has_symptom
+dd94a7a18eb8f7e0e509bb573a8659af360015af	The family members show features common to @DISEASE$ such as @PHENOTYPICFEATURE$, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+6ca0d4e743dc1626dac6fcb0fb7173f36c3e0553	The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including @DISEASE$ (IgAD).	false
+3bd84a8a5b26a17685408a723db8113b35c06fb1	The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/@DISEASE$ including IgA deficiency (IgAD).	false
+ed7530457bafdfebf42798a82fdb69e57d63f6a4	The family members show features common to 18q- syndrome such as @PHENOTYPICFEATURE$, multiple @DISEASE$, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+2679aa725cf0cd4592474af5374205ce3e2bc702	The family members show features common to 18q- syndrome such as @PHENOTYPICFEATURE$, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including @DISEASE$ (IgAD).	false
+4fb8f8f756483cc00574e185092672c6fba13d59	The family members show features common to 18q- syndrome such as @PHENOTYPICFEATURE$, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/@DISEASE$ including IgA deficiency (IgAD).	false
+b4a40dd89c2d1ff287eeffd7722658997d34b038	The family members show features common to @DISEASE$ such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+b6add434e0186999f1ff292c77e0ccd2800b2d42	The family members show features common to 18q- syndrome such as mental retardation, multiple @DISEASE$, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+bb9670157c7d511be86502ac482b552014a95d53	While there is significant phenotypic overlap among syndromes of the Ras/MAPK pathway, individuals with CS are more likely than individuals with @DISEASE$ to present with cutaneous papillomas, @PHENOTYPICFEATURE$ and full eyebrows, and are less likely to present with ulerythema ophryogenes, keratosis pilaris or multiple naevi.	has_symptom
+fa23bbea011c53845614e3995b98d77428ab72de	Characteristics of @PHENOTYPICFEATURE$ in Japanese patients with @DISEASE$.	has_symptom
+ea81c45ec3829bf9a9c8eabdfea5d23aa72ecdb5	@PHENOTYPICFEATURE$ are frequent in @DISEASE$.	has_symptom
+8ab948cdbc9ab8ff726e100cbd8e6f52d204c1bf	@PHENOTYPICFEATURE$ and depression severity in patients with @DISEASE$.	has_symptom
+d2f35a9bda67fb50c3f56a9568ecd40899f370b6	@PHENOTYPICFEATURE$ in @DISEASE$ and their potential role in heterogeneity.	has_symptom
+428022e8b152b7e84f0ec5a9ab7492dc702fe422	@PHENOTYPICFEATURE$ in @DISEASE$ are associated with central parkinsonian pain.	has_symptom
+dd473f06d49cb1dc5ee4d7c4737371417b22001d	@PHENOTYPICFEATURE$ and excessive daytime sleepiness in @DISEASE$: an overview.	has_symptom
+79122c9393b858f0f547416a9ee12884db900c12	[@DISEASE$: effective treatment of @PHENOTYPICFEATURE$].	has_symptom
+812b039b82542f2e14838e24e1db842ebdc98658	@PHENOTYPICFEATURE$ in @DISEASE$ patients and spouses.	has_symptom
+ff0157d26c8eb64b1a59a2cb6ce6bc83fc033c60	Many patients with @DISEASE$ (PD) complain about @PHENOTYPICFEATURE$.	has_symptom
+fc10cd6c23fad5fe068be67ab2499a692fc1570e	@DISEASE$ (PD) is highly comorbid with @PHENOTYPICFEATURE$.	has_symptom
+c352aecd3a2a439e947eb3af94408bd6ac60c862	Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6fe17e4105549b1b03247777cafd8e4b639993b4	We report on a 46,XY female with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+2833ea1e31d29385b07125fbe07a702346bbf253	In this report, we present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated @DISEASE$, cortical dysplasia, @PHENOTYPICFEATURE$, and bipedal gait.	has_symptom
+c788866c24b092455da428c6f2de043d58d12d3e	As such, the patient's data are suggestive of a new form of laminin alpha 2 positive CMD characterized by transient brain dysmyelination, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+38652a2097ae573a9a4450344fb0c8071e63e83a	We present twin males with @DISEASE$ and a review of 50 published case reports, with particular emphasis on the neurological aspects of KBG syndrome, including @PHENOTYPICFEATURE$, MRI findings, and behavior difficulties.	has_symptom
+659ef6b62adda7f3386b089dcb62084e4f6ff50a	We present twin males with KBG syndrome and a review of 50 published case reports, with particular emphasis on the neurological aspects of @DISEASE$, including @PHENOTYPICFEATURE$, MRI findings, and behavior difficulties.	has_symptom
+2510d5165129e8bb50c267ffb2af6deb116d5400	@DISEASE$ is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, @PHENOTYPICFEATURE$, and intellectual disability.	has_symptom
+003e40657d85858fcb46b16f76a684e9524bd28b	KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6a4e6c816f9ab8407a575b6a74775ffd04aafb50	@DISEASE$ is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and @PHENOTYPICFEATURE$.	false
+80cca94bd27a7c27c2a13f1e80e16051b4ccfdd3	KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, @PHENOTYPICFEATURE$, skeletal anomalies, and neurologic involvement including global developmental delay, @DISEASE$, and intellectual disability.	false
+8af8d2d32b2ae22e9657b64ee76da207890949cd	@DISEASE$ is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, @PHENOTYPICFEATURE$, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and intellectual disability.	false
+f7eb69bf658466626ea2f06ceaf02f73b988f3b0	@DISEASE$ is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, @PHENOTYPICFEATURE$, and neurologic involvement including global developmental delay, seizures, and intellectual disability.	false
+c56f9271dd05558d3d223352b292fd65c3bee5be	KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, @PHENOTYPICFEATURE$, and neurologic involvement including global developmental delay, @DISEASE$, and intellectual disability.	false
+5236fac9742e121adc50cc4253f42cc9463ce693	It is argued that diagnostic criteria for @DISEASE$ should include neurological involvement, that is, global developmental delay, @PHENOTYPICFEATURE$, and/or mental retardation (MR).	has_symptom
+96da5245faeacec62b3f4f113d7ac1bf6f58a740	It is argued that diagnostic criteria for @DISEASE$ should include neurological involvement, that is, global developmental delay, seizures, and/or @PHENOTYPICFEATURE$ (MR).	false
+d91a6bb4773fdb0d56d1ff0492ee8d1330b3b740	It is argued that diagnostic criteria for KBG syndrome should include neurological involvement, that is, global developmental delay, @DISEASE$, and/or @PHENOTYPICFEATURE$ (MR).	false
+34602a9d4880dca55d3e840c85ad62baed982e8d	Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either @DISEASE$, reported earlier in one other patient [Farrell et al., 1994: Am J Med Genet 50:98-99], or with VACTERL association with @PHENOTYPICFEATURE$, recently reported in 3 patients [Toriello et al., 1991: Proc Greenwood Genet Center 11:142; Porteus et al., 1992: Am J Med Genet 43:1032-1034], underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease.	has_symptom
+f9b3de96ead7f7ebbb609201d8bd02d31d98c156	Fanconi anemia in brothers initially diagnosed with VACTERL association with @PHENOTYPICFEATURE$, and subsequently with @DISEASE$.	has_symptom
+e20fb7d7d9669690ae8e73f766f2aa06234d5fa0	Two brothers with presumed @DISEASE$, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with @PHENOTYPICFEATURE$, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	has_symptom
+8fc501b3915269bf169fe0ece5f83cba0902c6da	Two brothers with presumed @DISEASE$, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, @PHENOTYPICFEATURE$, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+74ff7192900efa4ef5385c984b07f58fd59a2598	Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, @PHENOTYPICFEATURE$, tracheo-esophageal fistula (VACTERL) association with @DISEASE$, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+e4aeb0676cd260905ff605153736a9f693063f8b	Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, @PHENOTYPICFEATURE$, anal atresia, tracheo-esophageal fistula (VACTERL) association with @DISEASE$, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+fe4fab769c137bb7f5151551f499a9f0c55fe56d	Two brothers with presumed @DISEASE$, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, @PHENOTYPICFEATURE$, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them.	false
+3c3ca008e68051e7c03d8a5d60c9fb6ed9605705	Males or females who are heterozygous for COL4A3 or COL4A4 mutations usually manifest as TBMN, with nonprogressive @PHENOTYPICFEATURE$, while those who are homozygous or combined heterozygotes develop @DISEASE$.	has_symptom
+d77e4fc18156ad6224e9c0de7f5b3d786a5efe58	Alveolar macrophage release of @PHENOTYPICFEATURE$ necrosis factor during murine @DISEASE$.	has_symptom
+cca8b5817d68bfc02f8f5ef1e879fc9930b4f5e4	Clinically the patients present with opportunistic infections, especially @DISEASE$, and/or @PHENOTYPICFEATURE$ (often a Kaposi sarcoma).	has_symptom
+209eecd1ea4f72abc10b70515c929a962916b450	@DISEASE$ in patients with solid @PHENOTYPICFEATURE$ without acquired immune deficiency syndrome.	has_symptom
+5794615c79e4a09a9b36f3ad6206d9739634b970	Alveolar macrophages in AIDS patients: increased spontaneous @PHENOTYPICFEATURE$ necrosis factor-alpha production in @DISEASE$.	has_symptom
+5874ee66cebc965c41fbe1384d8ef5f2241f1c45	@DISEASE$ carinii stimulates @PHENOTYPICFEATURE$ necrosis factor-alpha release from alveolar macrophages through a beta-glucan-mediated mechanism.	has_symptom
+4966ac1e26f57e7475ae6a8cf539814b49cbb2ed	@DISEASE$ associated with solid ectopic corticotropin-producing @PHENOTYPICFEATURE$.	has_symptom
+1e161084aed6eb13b4aa58379a83837abaa99c50	@DISEASE$ in patients with solid @PHENOTYPICFEATURE$ and lymphomas: predisposing factors and outcome.	has_symptom
+341ca403941ff5f28744b343e2cbf3135c8a395d	@DISEASE$ (PCP) has rarely been reported in solid @PHENOTYPICFEATURE$ patients.	has_symptom
+ba4073b3734dc3c706e5ba8ab37b5975b8433983	Subsequent to @PHENOTYPICFEATURE$ resection and chemotherapy, the patient was discovered to have @DISEASE$ jiroveci pneumonia (PJP).	has_symptom
+51349a7ba6bdadbd84beb63eabe17a6012e6c387	@DISEASE$ in patients receiving @PHENOTYPICFEATURE$-necrosis-factor-inhibitor therapy: implications for chemoprophylaxis.	has_symptom
+023de0675aa02382cad758c883e674fa570ec1dc	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with @DISEASE$ renal crisis or anti-Ku and myositis, @PHENOTYPICFEATURE$ and joint contractures.	has_symptom
+e333826f508cd4ad398f1e5ab60ff9a06c2ee882	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with @DISEASE$ renal crisis or anti-Ku and myositis, arthritis and @PHENOTYPICFEATURE$.	false
+8597a918986b7b1804eff6b79447b1a22313a554	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and @DISEASE$, arthritis and @PHENOTYPICFEATURE$.	false
+7b8ab6d8421e83909d9a52d7e2016113564b8fa3	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and myositis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1b37bbb1c491949529f6e89e1fdc726af5954386	We estimated that rheumatoid arthritis affects 1.3 million adults (down from the estimate of 2.1 million for 1995), juvenile @PHENOTYPICFEATURE$ affects 294,000 children, spondylarthritides affect from 0.6 million to 2.4 million adults, systemic lupus erythematosus affects from 161,000 to 322,000 adults, @DISEASE$ affects 49,000 adults, and primary Sj?gren's syndrome affects from 0.4 million to 3.1 million adults.	has_symptom
+0dc0c807300a6472511b0bced96cd953dde68023	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @PHENOTYPICFEATURE$/arthralgia and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	has_symptom
+cf1171c6d41f226b816f8fbf0426ccd877d1c76a	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with @DISEASE$ (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+676d7370baf1ee29c046d82ec1d7acdb415ddfa8	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), @DISEASE$/@PHENOTYPICFEATURE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with PSS (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+06a3891b40cd553e08f4c12c0465f07b0dfca6b6	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+1e177dd23fd1d5df27fb55849bcea97b408d5432	These conditions include rheumatoid and juvenile @PHENOTYPICFEATURE$, Sjogren's syndrome, systemic lupus erythematosus, Behcet's and antiphospholipid syndromes, @DISEASE$, vasculitis, sarcoidosis, chronic fatigue syndrome, and fibromyalgia.	has_symptom
+9803902a29f69f87a6b4612e26d5ee35c69a49c8	Although most of the patients with antibodies to Sm, RNP, or both had systemic lupus erythematosus, some had other diagnoses, including cutaneous lupus, drug-induced lupus, rheumatoid arthritis, juvenile @PHENOTYPICFEATURE$, mixed connective tissue disease, Raynaud's disease, @DISEASE$, miscellaneous rheumatic and nonrheumatic diseases, and undifferentiated connective tissue disease syndromes.	has_symptom
+1d5e71d36089ec8c2f6d082e3a4ad99ce44c616b	@DISEASE$ (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+d1794e308b6d9f768181a474203aef42e8d6ad42	@DISEASE$ (RS) is an autosomal recessive disorder with symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation and @PHENOTYPICFEATURE$.	has_symptom
+55e68def1df9c2c0c1fa56d2060b4cc0660d616b	Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and @DISEASE$ (RBS) and are characterized by defects in limb and craniofacial development as well as @PHENOTYPICFEATURE$.	has_symptom
+94774022e2fee08591eb924911ae9eab6754b6aa	@DISEASE$ (RBS) is a human disease characterized by defects in limb and craniofacial development and growth and @PHENOTYPICFEATURE$.	has_symptom
+1d5e71d36089ec8c2f6d082e3a4ad99ce44c616b	@DISEASE$ (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	has_symptom
+d813e19ad6a3f1ee019f128d2f92a8de942bff21	The rare, autosomal recessive @DISEASE$ (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and @PHENOTYPICFEATURE$.	has_symptom
+4e7b4386709f92ce3e1a964825a37953b9282486	The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1dde8bb53e12a5e8356352e1d0764e55e0fc2650	The rare, autosomal recessive @DISEASE$ (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, @PHENOTYPICFEATURE$, and mental deficiency.	false
+695f30fdead2be5eb5cc7342f798b2b5ce26da6d	@DISEASE$ (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, @PHENOTYPICFEATURE$, cardiac and renal abnormalities.	has_symptom
+094ae7dfaafe2a5d52da13bb8681a8799219c7ba	@DISEASE$ (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, @PHENOTYPICFEATURE$, mental retardation, cardiac and renal abnormalities.	false
+f07a1b17ccc7e0f7717c695dd58bb44a1bd2f043	Roberts syndrome (RBS) (OMIM #268300) is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, @PHENOTYPICFEATURE$, @DISEASE$, cardiac and renal abnormalities.	false
+e7552027399072ef2f5d43a82dd508492b86665f	@DISEASE$/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, microcephaly, craniofacial anomalies, @PHENOTYPICFEATURE$, and tetraphocomelia in varying degrees of severity.	has_symptom
+0e16c2e9dab2194fb9bf27a5ba2c832c1bc0b56c	Roberts syndrome/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, craniofacial anomalies, @DISEASE$, and tetraphocomelia in varying degrees of severity.	false
+c156f4952071e9ef2f0a970d8fe38789b3b0846b	@DISEASE$/SC phocomelia is a rare, autosomal recessive syndrome characterised by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity.	false
+0d385badd3c288b856fde2552b79ccff3f45374f	Roberts syndrome/SC phocomelia is a rare, autosomal recessive @DISEASE$ characterised by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, craniofacial anomalies, mental retardation, and tetraphocomelia in varying degrees of severity.	false
+86253fac96518fa362d955aeb3a6ef8728f3b0ae	@DISEASE$: a recognizable cause of adolescent @PHENOTYPICFEATURE$.	has_symptom
+431557a555c1e11e0d7ba2338cf26622ca8b3e24	Patient 2 is a girl with @DISEASE$, mild Turner syndrome phenotype and @PHENOTYPICFEATURE$.	has_symptom
+b248595382c738ae8826f8b6c48db0733dc08326	Patient 2 is a girl with gonadal dysgenesis, mild @DISEASE$ phenotype and @PHENOTYPICFEATURE$.	has_symptom
+7998e34cce9718cca732a332b95e2b132eb0d259	Patients with @DISEASE$ have many somatic characteristics, including @PHENOTYPICFEATURE$.	has_symptom
+5cf59cf92a73f4c2fb537dad3d760b7ec6f5902c	Turner syndrome is usually associated with @PHENOTYPICFEATURE$, @DISEASE$ and variable dysmorphic features.	has_symptom
+3174d259474cc1b7d21e86f875556e4b4ad6b0c0	@DISEASE$ is usually associated with @PHENOTYPICFEATURE$, gonadal dysgenesis and variable dysmorphic features.	has_symptom
+4f4c5c3608f2cd4ab7af7792f90371ab99bc07d9	@PHENOTYPICFEATURE$ is a common manifestation of @DISEASE$.	has_symptom
+aaa6dde8a264f77d366c667b045aab0589f0ce53	@PHENOTYPICFEATURE$ is the major characteristic of @DISEASE$.	has_symptom
+8355d8415335dedd236982acd4b58d896f8173f3	Treatment of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+9374b95f775761ea33215b185eefad114c83cd3b	[Therapy for @PHENOTYPICFEATURE$ in girls with @DISEASE$].	has_symptom
+e5e8d12bc446606fae27a9a15a8962944748ed07	Turner syndrome is suspected in females with @PHENOTYPICFEATURE$, gonadal dysgenesis, and lymphedema; however, there are no pathognomonic features of @DISEASE$, and the disorder should be considered in any girl with short stature or delayed puberty.	has_symptom
+08d77f38fbaaeb1a5307cf622b20e6d97b186ea7	@DISEASE$ is suspected in females with @PHENOTYPICFEATURE$, gonadal dysgenesis, and lymphedema; however, there are no pathognomonic features of Turner syndrome, and the disorder should be considered in any girl with short stature or delayed puberty.	has_symptom
+4b5a273b9138d08551ddd0fb9f56a5beb2f7ba0e	@DISEASE$ is suspected in females with short stature, gonadal dysgenesis, and lymphedema; however, there are no pathognomonic features of Turner syndrome, and the disorder should be considered in any girl with @PHENOTYPICFEATURE$ or delayed puberty.	has_symptom
+61697fbb495f27afb5ee3fe6d48f4ebff5933f18	Turner syndrome is suspected in females with short stature, gonadal dysgenesis, and lymphedema; however, there are no pathognomonic features of @DISEASE$, and the disorder should be considered in any girl with @PHENOTYPICFEATURE$ or delayed puberty.	has_symptom
+5a41b5cb536edb418f42f11d5b75590cbba56c16	Turner syndrome is suspected in females with @PHENOTYPICFEATURE$, @DISEASE$, and lymphedema; however, there are no pathognomonic features of Turner syndrome, and the disorder should be considered in any girl with short stature or delayed puberty.	has_symptom
+1ea65192c23237c77134c299e487cc70804bde58	Turner syndrome is suspected in females with short stature, @DISEASE$, and lymphedema; however, there are no pathognomonic features of Turner syndrome, and the disorder should be considered in any girl with @PHENOTYPICFEATURE$ or delayed puberty.	has_symptom
+4cae88f1f1226261b891deb3875a5513d02a42f2	The syndrome is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+d4450f662eebb816b9d7ebe0c3b396b0a00dcdce	Heterozygous germline mutations in MTOR have been shown to underlie @DISEASE$, a rare autosomal dominant syndrome characterized by @PHENOTYPICFEATURE$, developmental delay, and dysmorphic facial features.	has_symptom
+3c3163890b8c48f19f73ddbcc0e10b3d65984247	GOF variants in this protein have been associated with @DISEASE$ (SKS), a rare autosomal dominant disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, seizure, developmental delay and dysmorphic facial features.	has_symptom
+97c9d23441a5aa9f3e869d8f5f808a8dc8eaf0a9	GOF variants in this protein have been associated with Smith-Kingsmore syndrome (SKS), a rare autosomal dominant disorder characterized by intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay and dysmorphic facial features.	false
+9bafb3dc742fb1928a3f9dcc5cd67041b9eb225e	GOF variants in this protein have been associated with @DISEASE$ (SKS), a rare autosomal dominant disorder characterized by intellectual disability, macrocephaly, @PHENOTYPICFEATURE$, developmental delay and dysmorphic facial features.	false
+1da154fdd504938c48268bf1f0c9b0a06e73e989	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of @DISEASE$ (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and @PHENOTYPICFEATURE$.	has_symptom
+6e338749d094d8e2c491d854cd89ab5b42c70400	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by @DISEASE$, @PHENOTYPICFEATURE$, external ear malformations and intellectual disability.	false
+017b7da661193d5523aab88941ea3a2b6af618a7	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of @DISEASE$ (MFDGA), characterized by mandibulofacial dysostosis, @PHENOTYPICFEATURE$, external ear malformations and intellectual disability.	false
+fcbb4626fec582f4ed63be52c2bbf08177784075	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, @PHENOTYPICFEATURE$, external ear malformations and @DISEASE$.	false
+844a0672c4dd46cf16ff85447809c6708b9768dc	region, while targeted exome sequencing revealed pathogenic variants in genes associated with @PHENOTYPICFEATURE$ (HUWE1, GRIN1), including a gene coding for @DISEASE$ (EFTUD2).	has_symptom
+953d0632094e4f494f2559c77dc9727ec75356e5	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	has_symptom
+0f8886c3a45621fb9dca49c158c619947c6e5060	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	has_symptom
+96c956e64d6a98210bf86d73a3b767421192d5f7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+6abf4c61490cccca77d18ba2127bbe42997abd0c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@DISEASE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9cf336e07052cf48f850fefdbaa3e190458aef65	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+20cf2eedeecccf46daf3b14c4c8a672af77c6206	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@DISEASE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+9ed9083a39f4473f329dc0f7a7312acba24047b7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+d3c0a7732874633134a1ea0f41961482c5c387c2	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8411ca523b05980a8ee2db86ed8172ff300d9a35	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+096605474c9563de1a17ac58d02b3900a76fdb1c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@DISEASE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+4cb9b94312b680e15a25687b54fdcbf2351f421c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+97c60795bb56d4ed0fe1947c839a225da96a6e88	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+3463fca8a6df37328346282ae7884d9e3a0bdeb4	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9e8d886b49344041acdca5d49b9b0d69498bbded	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+149ec09649de23dbfed527f1dc324bb8f4f76648	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+fb73335af051dff7ea0913c9bef45f4a0b58d78a	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+677db4612e0523d573bb4c38496853b3852dfb01	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @DISEASE$, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+94054111337bf7c055e09d0c43983dc8f15aa1e0	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+6d1158058913cd60027c01697f91494c470448da	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, @DISEASE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+85b25e2d4bcc04ef199dbfdff1bc2ebac625c9d4	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, @DISEASE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+652aabe68dfe8a906aef53e986ff66de45e30456	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+60559ead1457916d071298038ba2df4b799372a3	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+f47a0beee0097d79085094b71dd5eac545f1fb8d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+5927c1905b3ca07bcb97dce0f43c2f1798c335a1	A 6-year-old girl was diagnosed with @DISEASE$ with loose anagen hair because of profound @PHENOTYPICFEATURE$ and ectodermal anomalies such as sparse and easily pluckable hair.	has_symptom
+5b961bf90346133f379755192a517b7ec67c98ce	@DISEASE$ with loose anagen hair (NSLH) is characterized by @PHENOTYPICFEATURE$, characteristic facial phenotype, darkly pigmented and hairless skin, mild psychomotor delay with attention deficit disorder, and easily pluckable, sparse, thin, slow growing hair.	has_symptom
+0f57be39c38463a48eb88b50219ddf66b5722706	The major manifestations of the @DISEASE$ are developmental delay, @PHENOTYPICFEATURE$, mental impairment and epilepsy.	has_symptom
+ae68082651ff166a30b51b8e4b3035521b330c18	The major manifestations of the Wolf-Hirschhorn syndrome are developmental delay, @DISEASE$, @PHENOTYPICFEATURE$ and epilepsy.	false
+82d2369f9960d0a73e41173a5b4cff96d349ba3c	The major manifestations of the Wolf-Hirschhorn syndrome are developmental delay, short stature, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a55b0fead5d68a64faeaef9a0aeec84052273cd3	The major manifestations of the @DISEASE$ are developmental delay, short stature, @PHENOTYPICFEATURE$ and epilepsy.	false
+3ecac4001f0923f99cb0b002fa67093d1b67ebf3	These findings, along with our patient suggest that loss-of-function variation in WHSC1 may lead to a mild form of @DISEASE$, and also may suggest that the developmental delays, facial dysmorphisms, and @PHENOTYPICFEATURE$ seen in WHS may be due to disruption of WHSC1 gene.	has_symptom
+57e96574ffb73c254e8f40dd0f2564a83baa57cd	These findings, along with our patient suggest that loss-of-function variation in WHSC1 may lead to a mild form of @DISEASE$, and also may suggest that the developmental delays, @PHENOTYPICFEATURE$, and short stature seen in WHS may be due to disruption of WHSC1 gene.	false
+6ef31936e64329f8522439e7d7cc901216e16f1f	These findings, along with our patient suggest that loss-of-function variation in WHSC1 may lead to a mild form of Wolf-Hirschhorn syndrome, and also may suggest that the developmental delays, @PHENOTYPICFEATURE$, and @DISEASE$ seen in WHS may be due to disruption of WHSC1 gene.	false
+3f3c3f395291bc20cc234fafaffc42a773fcfaf4	All patients displayed cutaneous features resembling both @DISEASE$ and diffuse fasciitis, with severe loss of motion and @PHENOTYPICFEATURE$ in multiple joints.	has_symptom
+362aa6a7d812ebd4c911e2dc826b78e2b188c321	Effects of splinting in the treatment of hand @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c905e9829c01c9c86d08fa930d9219926c8a8444	Scores were associated to the occurrence of peripheral neurological changes, @PHENOTYPICFEATURE$, and @DISEASE$-like conditions.	has_symptom
+02156da94fee27674e2be3ae363680451db24997	The presence of small @PHENOTYPICFEATURE$ is a risk factor for survival in 439 patients with @DISEASE$.	has_symptom
+70e7c540ab06abc14e1809b72cbd6a334b525a1d	Hallmark deformities of @DISEASE$ are early onset and progressively disabling flexion contractures of the proximal interphalangeal (PIP) joints often in conjunction with extension or, less frequently, @PHENOTYPICFEATURE$ of the metacarpophalangeal (MCP) joints.	has_symptom
+408eb6b60853650814d24465e8bde10102787d60	Hallmark deformities of @DISEASE$ are early onset and progressively disabling @PHENOTYPICFEATURE$ of the proximal interphalangeal (PIP) joints often in conjunction with extension or, less frequently, flexion contractures of the metacarpophalangeal (MCP) joints.	has_symptom
+385def7a36ed19d71a56793e03b24370e466fe45	A three-year follow-up study of the development of @PHENOTYPICFEATURE$ in 131 patients with @DISEASE$.	has_symptom
+58423595baeb3b3645c02e3929a4e019c3a02f8e	MCP and PIP joints @PHENOTYPICFEATURE$ and the levels of anti-topo I abs were significantly higher in patients with @DISEASE$ than in healthy control.	has_symptom
+13a86f2b967014d32f500db4cb937207c337e8f4	To analyse the correlation between the number of @PHENOTYPICFEATURE$ and other major clinical findings in a follow-up study of 131 patients with @DISEASE$ (SSc).	has_symptom
+c0c3e30f34d5ebf8e596f85a4101389cdcda9477	The risk factors associated with wound healing and effects of skin @PHENOTYPICFEATURE$ in @DISEASE$ patients are reviewed.	has_symptom
+0f4b23142a9c24d7c07350a50b6256d6367922dd	@PHENOTYPICFEATURE$ and deformities of the hand are major factors in disability and reduced health-related quality of life in @DISEASE$ (SSc).	has_symptom
+23219724c5fbfd88503de9ab3a983c887e912504	@DISEASE$ is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked @PHENOTYPICFEATURE$.	has_symptom
+653e42835939aca5c5d7f68ac80f79e35532b5a0	Generalized dry scaly lesions with erythema, along with @PHENOTYPICFEATURE$ of the palms and the soles, suggestive of @DISEASE$ were present.	has_symptom
+ab40a9230f4c407dcb53b5c1f66f8af7b42f4467	Biopsy specimens taken at the age of 2 weeks were typical for @DISEASE$ and showed @PHENOTYPICFEATURE$ with focal parakeratosis, a thickened stratum granulosum in which the cellular content of keratohyalin and tonofibrils was moderately diminished, and acanthosis with increased mitotic activity.	has_symptom
+067dd06a88367035524c0b4260a694dbe9ae51a8	@DISEASE$ (LI) is a genetically heterogeneous, severe genodermatosis showing widespread @PHENOTYPICFEATURE$ of the skin.	has_symptom
+2aaecb4ddf212767789c124449c4ffbd7932d996	@DISEASE$ (NCIE) is a nonsyndromic form of autosomal recessive congenital ichthyosis characterized by @PHENOTYPICFEATURE$ and a disruption in the epidermal permeability barrier.	has_symptom
+93aebbc36e10e8bf3bd5f974610bf3f23ff6a257	Surprisingly, mice with enhanced Nrf2 activity in keratinocytes developed epidermal thickening, @PHENOTYPICFEATURE$ and inflammation resembling @DISEASE$.	has_symptom
+2645b1fec043c67ff10620c7da38dee313165bd3	Histologic examination of @DISEASE$ revealed @PHENOTYPICFEATURE$; psoriasiform acanthosis; dilated, tortuous capillaries; and a slight perivascular lymphocytic infiltrate.	has_symptom
+5387ae8dd9c69c7870348fbe6cc1600747f773d1	@DISEASE$ is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, @PHENOTYPICFEATURE$, hypospadias and developmental delay.	has_symptom
+6502ce547c2cb27d8999a965f8a9b8b7bedc18fc	Opitz G/BBB syndrome is a @DISEASE$ of the ventral midline mainly characterized by @PHENOTYPICFEATURE$, swallowing difficulties, hypospadias and developmental delay.	false
+5b0c4178e0fa4941a207c6941fea2d5089374b48	@DISEASE$ is a malformation syndrome of the ventral midline mainly characterized by @PHENOTYPICFEATURE$, swallowing difficulties, hypospadias and developmental delay.	false
+e709deb448df903887c2ce60211cca66d2476ed1	Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by @PHENOTYPICFEATURE$, @DISEASE$, hypospadias and developmental delay.	false
+84fb50ce20a0d4f99f0d48280b248effe8d1c265	Prenatal treatment of fetal hydrops associated with the hypertelorism-@PHENOTYPICFEATURE$ syndrome (@DISEASE$).	has_symptom
+60984265b5e7ba8ee01d452a7e57c982203193e7	Prenatal treatment of fetal hydrops associated with the @PHENOTYPICFEATURE$-@DISEASE$ syndrome (Opitz-G syndrome).	false
+e03e7268def943527937ee3818ed56ecb79ebd74	Prenatal treatment of fetal hydrops associated with the @PHENOTYPICFEATURE$-dysphagia syndrome (@DISEASE$).	false
+103eb7f33dd40b65718a23ed4cf2e4f0143b51ce	Prenatal treatment of fetal hydrops associated with the @PHENOTYPICFEATURE$-dysphagia @DISEASE$ (Opitz-G syndrome).	false
+f51bc1a9c0f979a529abd05928d42b9788af65eb	@DISEASE$ (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney anomalies and @PHENOTYPICFEATURE$.	has_symptom
+9f9634f082b7ed538f9daf9066a2e720680b3063	Bardet-Biedl syndrome (@DISEASE$) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney anomalies and @PHENOTYPICFEATURE$.	has_symptom
+5eed18e41159ee8fd16b2178993bf4b02a0a4778	Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive @PHENOTYPICFEATURE$, obesity, polydactyly, cognitive impairment, kidney anomalies and @DISEASE$.	false
+8b3e3218f18d34875419f7023efd6f463188e54d	Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, cognitive impairment, kidney anomalies and @DISEASE$.	false
+a1fb8863c9d71a5cdea7b434bccd4b70a223635c	@DISEASE$ (BBS) is a model ciliopathy characterized by progressive retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, cognitive impairment, kidney anomalies and hypogonadism.	false
+0ffe15ec616936a14d2bd701f148fb54800ce200	@DISEASE$ (BBS) is a model ciliopathy characterized by progressive @PHENOTYPICFEATURE$, obesity, polydactyly, cognitive impairment, kidney anomalies and hypogonadism.	false
+ebbff5747945ec76cd5fa4858d56ed357848300d	Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, @PHENOTYPICFEATURE$, cognitive impairment, kidney anomalies and @DISEASE$.	false
+acaf7f806ce91a7b253f26b31944a46363dc3751	@DISEASE$ (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, @PHENOTYPICFEATURE$, cognitive impairment, kidney anomalies and hypogonadism.	false
+5de6e25d40523e7cafed22b9f9f2d302cf30aa21	Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, @PHENOTYPICFEATURE$, kidney anomalies and @DISEASE$.	false
+f7991dbf6fcc4362f5ed13d20a8335424b93628a	Bardet-Biedl syndrome (@DISEASE$) is a model ciliopathy characterized by progressive @PHENOTYPICFEATURE$, obesity, polydactyly, cognitive impairment, kidney anomalies and hypogonadism.	false
+1265190e0c7991e830233e138188802cb6e92de1	Bardet-Biedl syndrome (@DISEASE$) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, @PHENOTYPICFEATURE$, kidney anomalies and hypogonadism.	false
+0265f80b2a6171b766863d8799decca9d9491b3d	@DISEASE$ (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, @PHENOTYPICFEATURE$, kidney anomalies and hypogonadism.	false
+29e141e95362e247321afcd302e6ab2202f7d08c	Bardet-Biedl syndrome (@DISEASE$) is a model ciliopathy characterized by progressive retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, cognitive impairment, kidney anomalies and hypogonadism.	false
+db9337850ca63d7019c117edaf9df9892162e0ff	Bardet-Biedl syndrome (@DISEASE$) is a model ciliopathy characterized by progressive retinal degeneration, obesity, @PHENOTYPICFEATURE$, cognitive impairment, kidney anomalies and hypogonadism.	false
+ac805598e979c20319222950f563874eb1cd108f	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @PHENOTYPICFEATURE$, and mental retardation, to which our observations belong.	has_symptom
+bb5984ec0d28f6d8a6406f000d226d318f6dce87	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @DISEASE$, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+206198e2030f19af4ba58f7b1bb50d18959740b8	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+3287515368374c78bcaf187002bbafca603f4f9f	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+518ada0f90313cff6ee02959ac3837ba33506e5e	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+7b1be6d7ff449d75d960eccbf41e6e064239f209	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation, to which our observations belong.	false
+163e2597e4767b1273cd975a88c8fec694e4c59f	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+4e398d43e57602cc60b76bf4dcc5166eee555b5c	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @PHENOTYPICFEATURE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+d3adba69532b2a6f2dade1c6fc06069d7323472d	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+27575cecd8ad59818ee3ee0b74da3a2a543d55f8	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+6d8cecba4da9f3ac1707df5183e44cf747df4e03	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, @PHENOTYPICFEATURE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+0a5e7cda4c14dd2e866a67771b98fa6e62f1d15d	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+ba42525f631d8095abe5acf01e1c57b64cdcd69f	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @PHENOTYPICFEATURE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+f9a1fba8b889ba7d16324f51f01422a708b975fa	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @PHENOTYPICFEATURE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @DISEASE$, and mental retardation, to which our observations belong.	false
+ca1b07d3e9b77adfab96c3dfa0cb6d045359b752	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+725bc3d1ea9b6014b64e6339f454231ed9d6a3db	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited @DISEASE$ of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and @PHENOTYPICFEATURE$, to which our observations belong.	false
+491512f858c137aa4f3c90de68d1d1454212b0c8	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @DISEASE$, and mental retardation, to which our observations belong.	false
+fe3202b73b14a0b6573b9ebc373f86ff628922d2	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, @DISEASE$, and mental retardation, to which our observations belong.	false
+09d61b23462b6c845d97d9aeddeb7fef678c8c3c	Purported BS2 cases may be divided into: (1) @DISEASE$ with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous @PHENOTYPICFEATURE$ occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+d5952ac1f0e473579dd689a28f420eeffdd08156	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with @PHENOTYPICFEATURE$, hypogonadism, and mental retardation, to which our observations belong.	false
+a722773d3c4f480dc57accc2de99ba36ffd6365d	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without @PHENOTYPICFEATURE$, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+e15a2f3f94e1fd1f6492cc094684e79633502859	The @DISEASE$ is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, mental deficiency and @PHENOTYPICFEATURE$; recently a sixth feature, renal disease, has been described.	has_symptom
+893d791e5a9b32f8fec23f85d3ec665608215e55	The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, @PHENOTYPICFEATURE$ and hypogonadism; recently a sixth feature, @DISEASE$, has been described.	false
+ecfe23685fd9f3fdbf0306a375a40a6494e55cb3	The Bardet-Biedl syndrome is characterized by five main features: obesity, @PHENOTYPICFEATURE$, @DISEASE$ retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+09465a8a7faedb20dd6890ee20c8b8601f9674bc	The Bardet-Biedl syndrome is characterized by five main features: @PHENOTYPICFEATURE$, polydactyly, pigmentary retinopathy, mental deficiency and @DISEASE$; recently a sixth feature, renal disease, has been described.	false
+fa58ca42f34be2bb19aa8a862a883fbeed251356	The Bardet-Biedl syndrome is characterized by five main features: obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy, mental deficiency and @DISEASE$; recently a sixth feature, renal disease, has been described.	false
+f11b457946ab33b168bd3c29c20dd4b2dad9db25	The Bardet-Biedl syndrome is characterized by five main features: obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, @DISEASE$, has been described.	false
+4c3d49695b889c822c2a6fcd8f5d8e6402d7a7a7	The Bardet-Biedl syndrome is characterized by five main features: @PHENOTYPICFEATURE$, polydactyly, pigmentary @DISEASE$, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+88957d33e94930a805422ee1b97e94fe75ff854f	The @DISEASE$ is characterized by five main features: obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+0d600cd8b5cd2c6bcaeea6b73359423e0211858f	The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, @PHENOTYPICFEATURE$ and @DISEASE$; recently a sixth feature, renal disease, has been described.	false
+7d5ae7814614186dae5704a2080541ebe6e8b6df	The @DISEASE$ is characterized by five main features: @PHENOTYPICFEATURE$, polydactyly, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+02d37d214a405394fd020ec3f857d5347b667231	The Bardet-Biedl syndrome is characterized by five main features: @PHENOTYPICFEATURE$, polydactyly, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, @DISEASE$, has been described.	false
+2f31cbbaeffb9efe050fc37b35f106ec00918e1e	The @DISEASE$ is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, @PHENOTYPICFEATURE$ and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+709df5d3ee0e5a3eae9a1a448a44f0b75efbcbd3	The Bardet-Biedl syndrome is characterized by five main features: @PHENOTYPICFEATURE$, polydactyly, @DISEASE$ retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+bed113e2f9519d5fe4a1632748157ce21c36e8fb	The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, @DISEASE$ retinopathy, @PHENOTYPICFEATURE$ and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+ee1283167015d985f0dba504d2777a67e1c88359	The Bardet-Biedl syndrome is characterized by five main features: obesity, @PHENOTYPICFEATURE$, pigmentary @DISEASE$, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+262a60d437886a7baf6fba073294478ee0898f59	The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary @DISEASE$, @PHENOTYPICFEATURE$ and hypogonadism; recently a sixth feature, renal disease, has been described.	false
+11465a27086cb013cbc91bd446f9df33ddfe16c6	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	has_symptom
+e2319521d6d82e5c0d8dfcb265dda627c4a2d53b	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, renal anomalies, retinitis pigmentosa and @PHENOTYPICFEATURE$ and is inherited in an autosomal recessive manner.	has_symptom
+ccc86a4d4315779f4b3d2a98598743a03a5950ec	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and @DISEASE$ and is inherited in an autosomal recessive manner.	false
+7c6d9b8c2d5238de43a0001a056873c04aef8643	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, @DISEASE$ and hypogonadism and is inherited in an autosomal recessive manner.	false
+09cd1f05574715009ccb6f3f9833023bf3f957a7	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+0d615894947a89a3d4204289cfdc9c83e79be910	@DISEASE$ (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+d1e59c137d99bf3a0d05cc8f97cebf4e79855dff	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and @DISEASE$ and is inherited in an autosomal recessive manner.	false
+45b3795227257e48e0acfec398898e120b2ef03a	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+e569a87e51ef12ac87981e57be74ea6eaf8cd1fb	Bardet-Biedl syndrome (BBS) is characterized by six major features: postaxial polydactyly, @PHENOTYPICFEATURE$, learning disabilities, renal anomalies, @DISEASE$ and hypogonadism and is inherited in an autosomal recessive manner.	false
+374e9edb71638fe9c1e087d98c6969ba3d628358	Bardet-Biedl syndrome (@DISEASE$) is characterized by six major features: postaxial polydactyly, obesity, learning disabilities, @PHENOTYPICFEATURE$, retinitis pigmentosa and hypogonadism and is inherited in an autosomal recessive manner.	false
+77459b98073b60aa4789f045e74570ab926ea142	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	has_symptom
+5c4a05717d2264ed848379921688316b4a5359b8	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) @DISEASE$ (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+0ff05b2cd075f91cfdfb02482496e4dbc1753641	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @DISEASE$, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+a36a28fab8de777b9ab349f10e208c7f82f1c4f1	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital @DISEASE$, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+0e49c9040644cbe8959b3309bc393215f12b8a07	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+2e0f0a03910cdbd6dcd166863f0ea0491275078b	Hay-Wells syndrome, also known as ankyloblepharon-@DISEASE$-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+448064a11c74a23165c6d0aec51f050748b6544d	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+ee6b41ab319438a9193b6209a072b881e551b12d	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital @DISEASE$, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+c10fc0383b287bbdc9deaedcaed3172a8e9d8eb9	Hay-Wells syndrome, also known as ankyloblepharon-@DISEASE$-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+dc2609935ac99eb9fa6ed3b3f597ae2ff8d4ee35	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp @DISEASE$, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	false
+a7bbfab2528a0cba81e4684ec9fa1782461d161f	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) @DISEASE$ (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+69d750ad81bf7094247695e6949b80f6ca80a58c	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and @DISEASE$ and/or cleft palate.	false
+262ef51a166b587e493cc854ab633e98dc498fed	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @DISEASE$, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+133e2f184b1f282393dae67c9a5433574798ff32	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+e2001077e05cce19f1575df0ee26e9c6a6ed5283	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp @DISEASE$, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+f885fc38619380de267c7729d92207ae98964f8a	We report a 13-year-old boy with @DISEASE$, nasal hypoplasia, @PHENOTYPICFEATURE$ and a tracheal stenosis of unknown origin.	has_symptom
+56b0b11446d1ded75801461ed3bc8ffd87dde7f6	@DISEASE$ is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+3bd7d8d70b2408174a329c1994f7c3d91cd59b73	KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fd4fdd2096e82e2929a85b066feea502586ee4c9	@DISEASE$ is a rare disease characterized by typical @PHENOTYPICFEATURE$, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay.	false
+b9e19a259fe23a738dce41eec32a7ee86d016b23	KBG syndrome is a rare disease characterized by typical @PHENOTYPICFEATURE$, macrodontia of upper central incisors, skeletal abnormalities, and @DISEASE$.	false
+d271dbe3ef4261c2501cbae6de08e195b5fecb53	@DISEASE$ is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, @PHENOTYPICFEATURE$, and developmental delay.	false
+b43e8beaf4a565b46cbc464efc4551961091bd1a	@DISEASE$: A case presenting with @PHENOTYPICFEATURE$.	has_symptom
+feea73463e2ccb8175d949db5c788a643f5a46d7	We report a case of @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+6065a35e4b3d786f9afe2586ef285c3531d37703	@PHENOTYPICFEATURE$ are thus a main feature of @DISEASE$, which results from an embryonic development defect due to the EFTUD2 mutation.	has_symptom
+c6ec1cf0c6e9b86e3d3d6cf361f751c30c328309	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related @DISEASE$ (1/21) mutations were detected.	has_symptom
+effad3665dc622823fb8c76485c9a695272de22a	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), @DISEASE$ (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+9236be2e724a0d6cf12aa9b4e3eaf04c08c62c78	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor @DISEASE$ accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+b1b5c655f00afda7a73a0d610bd4e24912188339	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), @DISEASE$ (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+ead434fdaaf651a6ab731dcc665f8e88c28f84d7	Genetically, infantile neuroaxonal dystrophy (7/21), @DISEASE$ (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+7adb65fb04bbd7428471db8c91476ed8f0bec4d4	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @DISEASE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+daf669e521268c05e286cc01616973b7c5710f98	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren @DISEASE$ (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+7b9571360902d5ae06eb2af509067150747c0582	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay @PHENOTYPICFEATURE$ (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated cerebellar hypoplasia (1/21), and TSEN54-related @DISEASE$ (1/21) mutations were detected.	false
+67daa924aa93948e32cad1b82d395d6dde67cf69	Such changes seem characteristic of an unusual syndrome previously referred to as "@PHENOTYPICFEATURE$ in Werdnig-Hoffmann disease", or "anterior horn cell disease with @DISEASE$".	has_symptom
+671295db0010bab0aceb9c1b26f96542791e8bca	Fifteen children with cerebellar ataxia and @DISEASE$, nonprogressive @PHENOTYPICFEATURE$ or progressive cerebellar atrophy and 7 controls were included in this study.	has_symptom
+415676fe6a3ada690e956d2494d66aff5f1ac55f	Fifteen children with @PHENOTYPICFEATURE$ and @DISEASE$, nonprogressive cerebellar hypoplasia or progressive cerebellar atrophy and 7 controls were included in this study.	false
+a178159492bb03e18af607d22970e199ea75a350	Fifteen children with @PHENOTYPICFEATURE$ and pontocerebellar hypoplasia, nonprogressive @DISEASE$ or progressive cerebellar atrophy and 7 controls were included in this study.	false
+767a0449e796b168b8b17faf8fdffbd8c530f036	Various morphological patterns have been described on neuroimaging including @PHENOTYPICFEATURE$, cerebellar agenesis, @DISEASE$, cerebellar dysplasia, cerebellar dysmorphia, and cerebellar atrophy.	has_symptom
+e4cb636ce3cfc789a5515a707f26d000355e821d	In the second and third trimester, malformations of the posterior fossa can be subdivided into 3 groups: fluid accumulation in the posterior fossa (Dandy-Walker malformation, Blake's pouch cyst, mega cisterna magna, arachnoid cyst, vermian hypoplasia), decreased cerebellar biometrics (volume) (@PHENOTYPICFEATURE$, @DISEASE$) and suspicious cerebellar anatomy (Arnold-Chiari malformation, rhombencephalosynapsis, Joubert syndrome).	has_symptom
+f37dfe7a9852c0fef969d39dd1fb325d6595c307	@DISEASE$ (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the @PHENOTYPICFEATURE$ of the ventral pons, progressive microcephaly and variable neocortical atrophy.	has_symptom
+34bb0a13687856970980ab114bbc11d8fd62a8e5	CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global @PHENOTYPICFEATURE$ (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent @DISEASE$ (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral cerebellar malformation (n=2).	has_symptom
+469799dcb34e404d2a0a57e48e5312de28e0785f	CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global @DISEASE$ (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral @PHENOTYPICFEATURE$ (n=2).	false
+3a777907ad42e5845052db3f4a020df160dacb88	CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent @DISEASE$ (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral @PHENOTYPICFEATURE$ (n=2).	false
+8b4b400d790e6c5149aa58544e3022e26338838f	Comorbidities are common in CCMs, especially ophthalmological issues in @PHENOTYPICFEATURE$ and sensorineural hearing loss in @DISEASE$.	has_symptom
+be69df22b93b35c5f211c71b9a32f00ad83191ea	Comorbidities are common in CCMs, especially ophthalmological issues in @DISEASE$ and @PHENOTYPICFEATURE$ in pontocerebellar hypoplasia.	false
+d6157e27ce43b9e727b59bb1c069d26092aaa50d	Comorbidities are common in CCMs, especially ophthalmological issues in cerebellar hypoplasia and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+f04f2393657e5033509493ea5b0f0a854bb950d9	An alternative approach to the classification of posterior fossa anomalies is to divide them into agenesis of the vermis, which could be partial or complete, @PHENOTYPICFEATURE$, @DISEASE$ and cerebellar atrophy.	has_symptom
+f3ba616575d730c2b707b6caef71f7a75c2bcb2d	We hypothesized that constrained spherical deconvolution-based probabilistic tractography could successfully reconstruct cerebellar tracts in children with cerebellar hypoplasia/atrophy and that diffusion scalars of the reconstructed tracts could differentiate @DISEASE$, nonprogressive @PHENOTYPICFEATURE$, and progressive cerebellar atrophy.	has_symptom
+c706c17816c3f4ac51df2aaf7ff4e187101f6b10	We hypothesized that constrained spherical deconvolution-based probabilistic tractography could successfully reconstruct cerebellar tracts in children with @PHENOTYPICFEATURE$ and that diffusion scalars of the reconstructed tracts could differentiate pontocerebellar hypoplasia, nonprogressive @DISEASE$, and progressive cerebellar atrophy.	false
+0d58961c7d0379fdbfe451ec26be7d69bf6e53b6	We hypothesized that constrained spherical deconvolution-based probabilistic tractography could successfully reconstruct cerebellar tracts in children with @PHENOTYPICFEATURE$ and that diffusion scalars of the reconstructed tracts could differentiate @DISEASE$, nonprogressive cerebellar hypoplasia, and progressive cerebellar atrophy.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ce272a77f2154479d38a3236683cc27fcad3b320	The third form of absence epilepsy is @DISEASE$, characterized especially by myoclonic jerks in the morning; these attacks occasionally progress to @PHENOTYPICFEATURE$.	has_symptom
+35c74536b8bbfc3899bd2814072b8e823018a3c4	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, @PHENOTYPICFEATURE$, absence seizures, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	has_symptom
+61881ee99029d747843b281f9c5f16db23af7042	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, @PHENOTYPICFEATURE$, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+6c0f69ee4e09ce445eb55dd340fde6524cf7af56	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, @DISEASE$, @PHENOTYPICFEATURE$, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+47fe1154bae99a41c1f240b1fb01a0e24fc10761	We consider the percentage of @PHENOTYPICFEATURE$ free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, @DISEASE$, absence seizures, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+9abba0c904692efd3abb74832264f0c670d5e5d0	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of @PHENOTYPICFEATURE$, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+5ca9f2f0e290f4fd36889fa2e9a8553d0eaa4d68	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the @PHENOTYPICFEATURE$) in childhood epilepsy, partial epilepsy, @DISEASE$, absence seizures, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+cfc60aa861cb13845bbedac5243bfb51d754d245	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, @DISEASE$, absence seizures, tonic seizures, patients with diverse types of @PHENOTYPICFEATURE$, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+66237de51b031eda04071a4169aee0f520c54dcc	We consider the percentage of @PHENOTYPICFEATURE$ free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+ac1150f0042321bf3e3621d2938a6d7866de2f15	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the @PHENOTYPICFEATURE$) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+5db0201d902872f9e9cf8512eab3937e80ed9861	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign myoclonic epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; @DISEASE$; and epilepsy with @PHENOTYPICFEATURE$ only.	has_symptom
+705a21cdb77093bca11a4703d4ebbc3794f6632e	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; @DISEASE$; and epilepsy with generalized tonic-clonic seizures only.	false
+ffc6b2a01aa034cfd494f06c3db62c2f306ce6ea	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; @DISEASE$; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+2acb2e59db619d408b8ca3fdd0a7f26303bb1d43	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; @DISEASE$, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+cd330ddc96463fa255b77c20f83f820f9997b5e0	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with @DISEASE$ only.	false
+4ece533f1451f1c5059a2ba1a5bbf1df83262fb8	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic @DISEASE$ (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+42863d54ae4430813cf1ecc7a6424e4be79e5b13	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; @DISEASE$; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures only.	false
+68e627bcf3f53751d960c377da6ddc1aa7c5f707	Linkage studies have localized a gene defect on chromosome 6p that predisposes to a group of IGEs: JME, absence epilepsy, and @PHENOTYPICFEATURE$ in epilepsy families with @DISEASE$ probands.	has_symptom
+bca741367802fd537b3598b92740ddd314781cf4	Major syndromes are epilepsy with @PHENOTYPICFEATURE$ (GTCS) alone, absence epilepsy and @DISEASE$.	has_symptom
+cf1f63d2c6448f9a271ed95ae05e8b5c900283f9	We studied 21 families of @DISEASE$ patients with a total of 143 family members and obtained a highest logarithm of the odds (lod) score of 3.9 (theta m = 0.01, theta f = 0.01) assuming a dominant mode of inheritance and 70% penetrance when family members with JME, absence epilepsy, or epilepsy with @PHENOTYPICFEATURE$ (GTCS) were considered as affected.	has_symptom
+f7465644059b3b7324f8ebbc1edb6e9ade302914	@DISEASE$ always has a myoclonic component alone or in combination with @PHENOTYPICFEATURE$ or absence seizure.	has_symptom
+82a46bcc509ec3526adff4a75d63f8086ada2e26	Juvenile myoclonic epilepsy always has a myoclonic component alone or in combination with @DISEASE$ or @PHENOTYPICFEATURE$.	false
+dfb86b8dec0b36d9ccbab398e17f019e0929a842	@DISEASE$ always has a myoclonic component alone or in combination with generalized tonic-clonic seizure or @PHENOTYPICFEATURE$.	false
+0702b67257dfc6226d8fa04e472fb7993e575226	Unusual chorioretinal findings should alert the ophthalmologist to the @DISEASE$, especially if there is a history of neonatal hypoglycaemia or @PHENOTYPICFEATURE$.	has_symptom
+c7b402a1af531832321391acf2a771bd50797967	Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal @PHENOTYPICFEATURE$ or @DISEASE$.	false
+8fae6a107ec7c680bd91e761d4baa04573a64acb	Unusual chorioretinal findings should alert the ophthalmologist to the @DISEASE$, especially if there is a history of neonatal @PHENOTYPICFEATURE$ or failure to thrive.	false
+e8dbd6f1923d52b259050520de5d18a66e2f84a2	Signs and symptoms of @DISEASE$ begin in infancy and include @PHENOTYPICFEATURE$, hepatomegaly, hypophosphatemic rickets, and short stature.	has_symptom
+e4745febabf82c1e3f689107e75c9bedcc6d82a9	Signs and symptoms of Fanconi-Bickel syndrome begin in infancy and include @DISEASE$, hepatomegaly, hypophosphatemic rickets, and @PHENOTYPICFEATURE$.	false
+d004514f7f49a22267767d5891a16b1fc39b429b	Signs and symptoms of @DISEASE$ begin in infancy and include failure to thrive, hepatomegaly, hypophosphatemic rickets, and @PHENOTYPICFEATURE$.	false
+cea1d81e62b663a0e003e15323bcb8963407ed63	@DISEASE$ (FBS) is an autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and @PHENOTYPICFEATURE$.	has_symptom
+6e321c322920ab4ce24874851a9fb24bc37a0c44	Fanconi-Bickel syndrome (@DISEASE$) is an autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and @PHENOTYPICFEATURE$.	has_symptom
+8e2fd6cc7de2e998a5013473fafa26a9c3ab1357	During early inner ear development, Eya1 is expressed in the ventromedial wall of the otic vesicle (the site of the future sensory epithelia), in the statoacoustic ganglion, and in the periotic mesenchyme, consistent with the cochlear anomalies and @PHENOTYPICFEATURE$ of @DISEASE$ syndrome.	has_symptom
+e8c3e6ede915cf8ab350ad4938a6e7438486258a	These findings suggest a correlation between progressive fluctuant @PHENOTYPICFEATURE$ with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the @DISEASE$ syndrome.	has_symptom
+cf3a569a1cbee5838ff4bbbe8b6c88f2d8137546	These findings suggest a correlation between progressive fluctuant @DISEASE$ with caloric hypofunction and the presence of an @PHENOTYPICFEATURE$ in the BOR syndrome.	false
+f5728bdba43f06e6738721aed97f679f0f7ac239	These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an @PHENOTYPICFEATURE$ in the BOR @DISEASE$.	false
+14985bac158f99bba75b7005a0b7edbcf78ab907	These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an @PHENOTYPICFEATURE$ in the @DISEASE$ syndrome.	false
+fa02686c4ad92ef3b746cdab3acd9f59003e7b9e	We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with @DISEASE$ and @PHENOTYPICFEATURE$ of Norman type and localized to chromosome 9q34 (OMIM #213200).	has_symptom
+29a1d4664898d3ee91f2cb60bc88968942f0db81	We report the identification of mutations in PMPCA in 17 patients from four families affected with @PHENOTYPICFEATURE$, including the large Lebanese family previously described with @DISEASE$ and short stature of Norman type and localized to chromosome 9q34 (OMIM #213200).	false
+86b92d03c0b277b4912376906b0aecc56854b439	We report the identification of mutations in PMPCA in 17 patients from four families affected with @PHENOTYPICFEATURE$, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and @DISEASE$ of Norman type and localized to chromosome 9q34 (OMIM #213200).	false
+d84fd23befba98475e0a726c3c07c108da95b6de	A total of 165 subjects were enrolled in the study, including 56?AD patients, 15 patients with mild @PHENOTYPICFEATURE$, 7 with frontotemporal dementia associated with progranulin mutations, 4 with dementia with Lewy bodies, 20 patients with Parkinson's disease, 10 with @DISEASE$ with progressive supranuclear palsy, and 48 cognitively normal individuals.	has_symptom
+972117b6911485b828434060029d5f224da0a0bf	The features of this syndrome are: hypercalcaemia accompanied by hypocalciuria, autosomal dominant transmission with strong penetrance, with early appearance of @PHENOTYPICFEATURE$, absence of signs of familial @DISEASE$, benign course and persistence of the hypercalcaemia despite classical sub-total parathyroidectomy.	has_symptom
+27e884cb8637c92f2c892368c1973bbfc6693ed5	None of the patients had @DISEASE$ (MEN), familial @PHENOTYPICFEATURE$, or malignant tumors.	has_symptom
+915de23d013d7c773923f45e4e5334b64430ea40	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: @DISEASE$ (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric @PHENOTYPICFEATURE$ (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	has_symptom
+21f0224dc1072b2b94fff3f5ff886ad1a52b544d	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: @DISEASE$ (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric @PHENOTYPICFEATURE$, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	has_symptom
+393ff615b819c605efbfca5eea04789410a5d7e3	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric @DISEASE$ (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe @PHENOTYPICFEATURE$ and isolated familial hyperparathyroidism.	false
+730fc8db7020aab08a4a1c1b674f0c55d88c2d58	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: @DISEASE$ (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial @PHENOTYPICFEATURE$.	false
+e5ef8b35445ce90deede59ba54a06276816fce19	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric @DISEASE$, neonatal severe @PHENOTYPICFEATURE$ and isolated familial hyperparathyroidism.	false
+bf083d808669250bf17fd20d15597c1ea2ca44e2	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: @DISEASE$ (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe @PHENOTYPICFEATURE$ and isolated familial hyperparathyroidism.	false
+d0f3cf84d0178b1c2403e6b37170108ffa7ed101	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), @PHENOTYPICFEATURE$-jaw tumour @DISEASE$ (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+4a4dc9becc7e4f977d4c813202eb803b949d2887	While most cases (95%) occur sporadically, about 5% are associated with a hereditary @DISEASE$: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+5eb66d9e35c8c32db481dd46b27ec4308bf0797b	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour @DISEASE$ (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe @PHENOTYPICFEATURE$ and isolated familial hyperparathyroidism.	false
+41f74a6cbf95356da5b8d3d3daf1bd1a01c426f0	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric @DISEASE$ (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+1d2a1dbe47fccf00b4a97438768f124339f4b31f	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ @DISEASE$ (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+72ccdea60ed2519a06ba8334f89bfead2e60ede9	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT), familial hypocalciuric @DISEASE$ (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+00107720c99c26e3e82739efed1ae7888253d430	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour @DISEASE$ (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial @PHENOTYPICFEATURE$.	false
+749b2a09391ccb03a806572db64e3d0377ffd848	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: @DISEASE$ (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+898bf66e2f9ab96c7f1acc4c6e73588a727b534e	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric @DISEASE$, neonatal severe hyperparathyroidism and isolated familial @PHENOTYPICFEATURE$.	false
+12636e8eedd480ced46ddee3f6d554a3fa91c918	While most cases (95%) occur sporadically, about 5% are associated with a hereditary @DISEASE$: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+0c617e566dde736c06b6e9f3732722bcf6add0ff	While most cases (95%) occur sporadically, about 5% are associated with a hereditary @DISEASE$: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe @PHENOTYPICFEATURE$ and isolated familial hyperparathyroidism.	false
+4456909ea0ba04d09dd4db31e4b9874ac75d09de	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric @DISEASE$, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+ed8b8c91d00f4f618e655cffa946e0983c65565f	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric @DISEASE$, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+ebca31fa4c9eb6edf1631e9e925cd6acc5a29fb6	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: @DISEASE$ (MEN-1, MEN-2A, MEN-4), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial hyperparathyroidism.	false
+57512f8043b4c2e1d4743094858bfd42c1e41197	While most cases (95%) occur sporadically, about 5% are associated with a hereditary syndrome: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric @DISEASE$ (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial @PHENOTYPICFEATURE$.	false
+e269eb8a0a6a0a4154d29be1364b08e67e2ded25	While most cases (95%) occur sporadically, about 5% are associated with a hereditary @DISEASE$: multiple endocrine neoplasia syndromes (MEN-1, MEN-2A, MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH-1, FHH-2, FHH-3), familial hypercalciuric hypercalcaemia, neonatal severe hyperparathyroidism and isolated familial @PHENOTYPICFEATURE$.	false
+6ae88116b04f39874fc1c6b482cdbc473b79d7f6	Here, we investigate a unique variant of familial @PHENOTYPICFEATURE$, unrelated to @DISEASE$ and hyperparathyroidism-jaw tumor syndromes, with hypercalcemia due to a point mutation in the intracellular part of the calcium receptor (CaR) gene.	has_symptom
+570336abacb5802ad4e14fb82d7101b0f5acc8bd	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and @PHENOTYPICFEATURE$, microcephaly, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	has_symptom
+07db2b2c4914b1e32b9f1113c58d5e755bf59b3f	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and @DISEASE$, @PHENOTYPICFEATURE$, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+b4fb08af8e8962ff2af16d6b5801ea553c98831c	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+0c3c2ac4d83e5f3098d1a387d33f80edc5cccd72	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, microcephaly, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented @DISEASE$ lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+b85579af3abf219ae2b594422f70ee5f21fe3969	@DISEASE$ (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @PHENOTYPICFEATURE$, large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+943967b057b3d774e09e7964cc3d9fd124d5793b	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and @DISEASE$, microcephaly, large @PHENOTYPICFEATURE$, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+da5d962ae4f56117f01bf1ba44c922b61fbe7b6c	Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmental delay and intellectual disability, @PHENOTYPICFEATURE$, large prominent eyes, a narrow nasal bridge, a tented @DISEASE$ lip, a high palate, an open mouth, tightly adherent skin, an aged appearance, and severe generalized lipodystrophy.	false
+559adacf4ab8461da37495d8a27b1fa7f68a0218	In particular, Erythema Nodosum, Panniculitides in Sarcoidosis, Pancreatic Panniculitis, Lupus Panniculitis, @PHENOTYPICFEATURE$ Induratum/Nodular Vasculitis and @DISEASE$/Rothman-Makai Pannicultis will be analyzed.	has_symptom
+34c9bbd740f554653a975c698e5bc01e71790122	In particular, Erythema Nodosum, Panniculitides in Sarcoidosis, Pancreatic Panniculitis, Lupus Panniculitis, @DISEASE$ Induratum/Nodular @PHENOTYPICFEATURE$ and Weber-Christian Panniculitis/Rothman-Makai Pannicultis will be analyzed.	false
+1bcf2548b80acabbc1a6344fce0d477aad64515c	In particular, Erythema Nodosum, Panniculitides in Sarcoidosis, Pancreatic Panniculitis, Lupus Panniculitis, Erythema Induratum/Nodular @PHENOTYPICFEATURE$ and @DISEASE$/Rothman-Makai Pannicultis will be analyzed.	false
+07b6212fea89752bc68469cc82f04bb8900b9cb3	This study sought to assess the safety of carvedilol therapy among @PHENOTYPICFEATURE$ (HF) patients with a cocaine-use disorder (@DISEASE$).	has_symptom
+c61c072ed6fc663da3b715db95dcd26265c47d7e	Secondary @DISEASE$, which is frequently observed in hemodialysis patients, has been associated with cardiac hypertrophy and @PHENOTYPICFEATURE$ and may impair myocardial fatty acid oxidation.	has_symptom
+5f1f2cfd495dbf9e278bb2cc4be0694f4020dd06	One patient appeared to have a systemic form of @DISEASE$, with severe myocardial involvement and died of @PHENOTYPICFEATURE$ before treatment was initiated.	has_symptom
+0bae796cc532f36eebee2f2a63b3e7e3f1565d30	The systemic form of @DISEASE$ is an autosomal recessive disorder and may present as a cardiomyopathy with @PHENOTYPICFEATURE$ and lipid accumulation in the myocardial cells.	has_symptom
+98d200cfca809c01637438f34c64f2c53c69cd4e	Other chronic conditions like diabetes mellitus, @PHENOTYPICFEATURE$, Alzheimer disease may cause @DISEASE$ also observed in conditions with increased catabolism as in critical illness.	has_symptom
+962ea94d54b1060523dacdf11a302d5de5da11c3	@DISEASE$ was excluded from loci linked to spinocerebellar ataxia type 1 (chromosome 6p), type 2 (chromosome 12q) type 3/Machado/Joseph disease (chromosome 14q), type 4 (chromosome 16q), and type 5 (11cent) as well as to episodic ataxia with myokymia (chromosome 12p), episodic ataxia with nystagmus (chromosome 19p), acetazolamide-responsive hereditary paroxysmal @PHENOTYPICFEATURE$ (chromosome 19p), and dentatorubral-pallidoluysian atrophy/Haw River syndrome (chromosome 12p).	has_symptom
+b242cea5032e32cfd02b54e13fe108a03a804548	@DISEASE$ is an autosomal dominant disorder characterized by defective smooth pursuit, gaze-evoked nystagmus, @PHENOTYPICFEATURE$, and vertigo.	has_symptom
+48ee74c61e573fb2171dc48915758b6179eeabd4	@DISEASE$, an autosomal dominant @PHENOTYPICFEATURE$ with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias.	has_symptom
+29d5ca25101b7a650be7debff2d409aa75523acf	@DISEASE$ is a potentially lethal developmental disorder characterized by mental handicap, palatal defects, @PHENOTYPICFEATURE$, and severe costovertebral defects.	has_symptom
+3692af4c2729d85b1d97d98818dfab9abd3201cb	@DISEASE$ (CCM) is characterized by @PHENOTYPICFEATURE$, cleft palate, rib defects, and frequently, mental deficiency.	has_symptom
+5a2e888e2e450e23af8e4ae02a45d87c90a0ddc0	Cerebrocostomandibular syndrome (CCM) is characterized by @DISEASE$, cleft palate, rib defects, and frequently, @PHENOTYPICFEATURE$.	false
+5136b35dcc1d206a562077d7c0e73fbf2c102db7	Cerebrocostomandibular syndrome (CCM) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, rib defects, and frequently, mental deficiency.	false
+bd458ccc8d58db5c9c86c4d4f18711e9a2ac7447	Cerebrocostomandibular syndrome (@DISEASE$) is characterized by micrognathia, cleft palate, rib defects, and frequently, @PHENOTYPICFEATURE$.	false
+4f0b06e1f9ad6276217b5d972f4e5243235e917a	@DISEASE$ (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, @PHENOTYPICFEATURE$.	false
+2ab36b14c768f24c49110c97bdf773c77aab6520	@DISEASE$ (CCM) is characterized by micrognathia, @PHENOTYPICFEATURE$, rib defects, and frequently, mental deficiency.	false
+ecf1ae9e41d8fcbfe09c9ec8799a8b74a3444fb4	Cerebrocostomandibular syndrome (@DISEASE$) is characterized by micrognathia, @PHENOTYPICFEATURE$, rib defects, and frequently, mental deficiency.	false
+b4868102e7585ee7fcc56d4462dffdcc4947533d	@DISEASE$ has scoliosis, @PHENOTYPICFEATURE$, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs.	has_symptom
+aedd73fed40f4952812e7537c32086bce4018241	Pediatric patients with syndromic @PHENOTYPICFEATURE$ including Treacher Collins, Nager, and @DISEASE$ were retrospectively evaluated between 2008 and 2016.	has_symptom
+ae6631d0dd4feed000f5f343983af5141d72b33c	GLUT2 dysfunction is associated with several pathologies, including @DISEASE$, a glycogen storage disease, characterized by @PHENOTYPICFEATURE$ and renal dysfunction.	has_symptom
+56f6bfc6cfb3f904842724663602441ab33ba850	We report a case of spinal and bulbar muscular atrophy (SBMA), also known as @DISEASE$, with a 38 CAG-repeat expansion in exon-1 of the androgen receptor gene, presenting with a 2-year history of mild speech difficulty, @PHENOTYPICFEATURE$, and occasional choking.	has_symptom
+f45a251812841558959a05c6dede82800bbe08fc	@DISEASE$ with bilateral absolute @PHENOTYPICFEATURE$.	has_symptom
+846de2bdc07468b95b1c74d982c4c15b374a8f0a	Neurological symptoms in @DISEASE$ mainly include stroke, acroparesthesia, cranial nerve palsies and @PHENOTYPICFEATURE$.	has_symptom
+ab9d7b7cc6960725d2e9dd1c0b2ff90f2db4b5cd	The four other cases showed discrepancies between phenotype and X inactivation pattern: @PHENOTYPICFEATURE$ and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and autism in two cases of XX maleness and @DISEASE$ (microphthalmia with linear skin defects) in a case of Xp(21.3-pter)	has_symptom
+6816f2d040466e5d5d120eae3d8eb556e3498d10	The four other cases showed discrepancies between phenotype and X inactivation pattern: @DISEASE$ and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and autism in two cases of XX maleness and MLS syndrome (@PHENOTYPICFEATURE$ with linear skin defects) in a case of Xp(21.3-pter)	false
+80d95ea4986087dc3910c55da75dbf5f2ccb1a54	The four other cases showed discrepancies between phenotype and X inactivation pattern: @DISEASE$ and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and @PHENOTYPICFEATURE$ in two cases of XX maleness and MLS syndrome (microphthalmia with linear skin defects) in a case of Xp(21.3-pter)	false
+5d73a2d9a0c44eeaa1998af8f77c4c2a8af68725	The four other cases showed discrepancies between phenotype and X inactivation pattern: mental retardation and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and @PHENOTYPICFEATURE$ in two cases of XX maleness and @DISEASE$ (microphthalmia with linear skin defects) in a case of Xp(21.3-pter)	false
+541571b9902d62d3f7b2d6c48a39cab964c1c695	The four other cases showed discrepancies between phenotype and X inactivation pattern: mental retardation and dysmorphism in a case of balanced X-autosome translocation, schizophrenia and autism in two cases of XX maleness and @DISEASE$ (@PHENOTYPICFEATURE$ with linear skin defects) in a case of Xp(21.3-pter)	false
+8573a2930b5a6a56bf5f21fce219fc9928bac0c1	Eya1 heterozygotes show renal abnormalities and a @PHENOTYPICFEATURE$ similar to @DISEASE$ syndrome, whereas Eya1 homozygotes lack ears and kidneys due to defective inductive tissue interactions and apoptotic regression of the organ primordia.	has_symptom
+cfd051b19739f632b1ab56a6cb0a9854d2dba4a3	@DISEASE$ (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in @PHENOTYPICFEATURE$, barrel-shaped chest, and dysplasia of the large joints.	has_symptom
+a4d4a9228f33fbde720b65004dcc83836c609f8f	A 23-year-old man was diagnosed as having X-linked @DISEASE$ (SEDT; MIM 313400) based on his @PHENOTYPICFEATURE$, characteristic radiological features of the spine (posterior hump, end plate sclerosis, and disc space narrowing) and the hips (short and thick femoral necks), and positive family history.	has_symptom
+e14347569d2ac3a16cfb1c116b00df68ae0ec326	@DISEASE$ (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a @PHENOTYPICFEATURE$, dysplasia of the large joints and flattened thoracic and lumber vertebral bodies.	has_symptom
+8b54d80e308264ae910f0dbbb49d2b31e2195660	@DISEASE$ (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by @PHENOTYPICFEATURE$, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies.	has_symptom
+e14fc798785beeaa608ca617dc682bec2e23e257	Successful treatment of IE with valve plastic surgery gradually ameliorated hypocomplementemia and @PHENOTYPICFEATURE$; thus @DISEASE$-like lesion in this case was classified as postinfectious glomerulonephritis.	has_symptom
+1c9995bd48c2dcb291ac626e09cfc49fbb29e5a6	Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic macroscopic haematuria, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a222b9f98219e3acf4c2c9cceb3b0cb5323fe4a8	We have identified two unrelated individuals with @DISEASE$ among 535 probands who have severe to profound @PHENOTYPICFEATURE$.	has_symptom
+b069d7934a02bc37780529e51e8a952091a72227	We report on a 26-year-old woman with @PHENOTYPICFEATURE$, typical facial features of @DISEASE$, exophthalmos, contractures of elbow and knee joints, severe muscular hypotonia, no ability to walk, and no speech development.	has_symptom
+bc67d8113c6df5f3ea91be86cfc272b5ce44eed6	@DISEASE$ (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, @PHENOTYPICFEATURE$, and dental abnormalities.	has_symptom
+62b0f01b9fb7c17577fac541ebf6835c1af0962a	Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital @DISEASE$, microphthalmia, and @PHENOTYPICFEATURE$.	false
+9dd7b26d3d90cd7e9a2b45a1d5c1903b7f4acaf0	@DISEASE$ (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$.	false
+03af9c012366501d2574cd64b59c0725bfdb75d0	Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+38e21c982fb3f4cb99026dd9ead641301d7e6bb6	The @DISEASE$ is an X-linked disorder characterized by congenital cataract, facial features, microcornea, @PHENOTYPICFEATURE$, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13.	has_symptom
+5e67b97236bfdcbd85762a6ffc6761ec2185cef2	The Nance-Horan syndrome is an X-linked disorder characterized by congenital @DISEASE$, facial features, microcornea, microphthalmia, and @PHENOTYPICFEATURE$; most of the cases are due to NHS gene mutations on Xp22.13.	false
+6fcfc532f8eb2af33e5876b22d3618badeaa233f	The @DISEASE$ is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and @PHENOTYPICFEATURE$; most of the cases are due to NHS gene mutations on Xp22.13.	false
+1a8108a82f7b4f231870e8c39bfe854cd779bc89	The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, @DISEASE$, and @PHENOTYPICFEATURE$; most of the cases are due to NHS gene mutations on Xp22.13.	false
+f412ed753ecd024057b2616b0d040df11da4d063	@DISEASE$ (NHS) is an X-linked condition characterised by congenital cataracts, @PHENOTYPICFEATURE$ and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases.	has_symptom
+b2370d9d3f269006a691dfa0a70606ac84fc7569	Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital @DISEASE$, microphthalmia and/or microcornea, unusual dental morphology, @PHENOTYPICFEATURE$, and developmental delay in some cases.	false
+a2624a98aebe86cc11d974823e0111932f1d975d	Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, @DISEASE$ and/or microcornea, unusual dental morphology, @PHENOTYPICFEATURE$, and developmental delay in some cases.	false
+a6410cd2f981a274092130f4aee524d228c56c1d	@DISEASE$ (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, @PHENOTYPICFEATURE$, and developmental delay in some cases.	false
+123a84b3171ebffbfd11b795c008caf8e729d82e	The @DISEASE$ of dental anomalies, congenital cataracts, @PHENOTYPICFEATURE$, and anteverted pinna: case report.	has_symptom
+b3b36c833f220f8881a4fdc9632db2c89ab8c5c0	The Nance-Horan syndrome of @PHENOTYPICFEATURE$, congenital cataracts, @DISEASE$, and anteverted pinna: case report.	false
+9a8a44e8ecb886c97a0dacbaec48e791756db363	The @DISEASE$ of @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, and anteverted pinna: case report.	false
+4338fb99e79a34f22845c6676a67825519887a0f	The Nance-Horan syndrome of @PHENOTYPICFEATURE$, congenital @DISEASE$, microphthalmia, and anteverted pinna: case report.	false
+0fed63866e63df7379e2afca971b21d78afbadd8	Novel SPINK5 variants in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+610d33ef0de68047d49b9c75965387f535348ead	Acute pancreatitis, @PHENOTYPICFEATURE$, tobacco, pancreatic calcifications, and pancreatic pseudocysts showed significant higher values in ACP than @DISEASE$ patients.	has_symptom
+f2c1b47899c8305944dc1e7376443750a9dd6d0e	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	has_symptom
+402eefebe6dad53700aae59b467b9d3ad15316ef	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	has_symptom
+eb66346f8b0e97e991e536879fa58d920bef3987	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @DISEASE$, and hypotonia.	false
+7c9c10b5d7d11404caff59b5cd14c394fb61be02	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+5fb6a73230907acc205e550bc2186d3051b7e1cb	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	false
+2570afc319ac69e02c79b4a8a6f0eb8261dccb82	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+79bd4edf415bc165e6df865a84bbcc5f96b4da86	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, @DISEASE$, and hypotonia.	false
+d157b3f713d1e6a822eb28a92ce0f4c589c26b64	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	false
+7d6fe5177e14b82c76fd9c6dc4f7c1776a61c6ad	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+6820245b084439b150e7d5f2eaf0e95371eb5503	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	false
+9e5841d3ff097924d77bcd4e0dfc08d571ae6f2e	In 1993, Baumister et al. described congenital hypertrichosis lanuginose or @DISEASE$: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional @PHENOTYPICFEATURE$.	has_symptom
+f02c6649611f7a5aface78b43ca8d91b1f781bc8	Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified @DISEASE$ with @PHENOTYPICFEATURE$ and brachymesophalangia.	has_symptom
+8453b933a2ff61f93edd2234b4071fd28b873245	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with @PHENOTYPICFEATURE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and digital anomalies.	has_symptom
+cf2ad27c5d8c636991262779b862b21a68ea2aa0	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+c05ba41d0123a30dadee4afcce4129ccf57089a9	@DISEASE$ [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+e1437e77d0ec6b3b97e0a08c809a81d8e1bf52da	Mohr syndrome [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with @DISEASE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+9df643607e8b289bb37f338324883e4023e2f714	Mohr syndrome [orofaciodigital (OFD) @DISEASE$ type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+b85f5cbdafad0c6a8e6fc2e8559aa576e190b842	@PHENOTYPICFEATURE$ and deafness: @DISEASE$.	has_symptom
+fb2bf7806df5da2070ccbb6b13498493187990bb	@DISEASE$ and @PHENOTYPICFEATURE$: branchio-oto-renal syndrome.	false
+a1b7a70ef6e87e9c380186ecdc4662fd4dea0cc7	Renal failure and @PHENOTYPICFEATURE$: @DISEASE$.	false
+ec3535939d61a51f0fd70d577d07137baa251768	@DISEASE$ and fetal MRI findings: a genetic disorder mimicking hydranencephaly/@PHENOTYPICFEATURE$.	has_symptom
+449c01187e085f3af96af5e18b0dadfff16c367e	We describe the features of @DISEASE$ (proliferative vasculopathy and @PHENOTYPICFEATURE$-hydranencephaly) diagnosed in the first trimester.	has_symptom
+0eac3657185d9403d1ae92c4a97f12af2132610a	@DISEASE$ should be considered in the differential diagnosis of lethal multiple pterygium syndrome, fetal akinesia, and @PHENOTYPICFEATURE$ in addition to classical hydranencephaly.	has_symptom
+9877441bcc1ba62a8639c6f22165b46f6b49ceee	@DISEASE$, also known as proliferative vasculopathy and @PHENOTYPICFEATURE$-hydranencephaly, is a lethal condition characterized by hydrocephalus associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy.	has_symptom
+3c9fcf58a1500b6b3bb45d286a79356c131c9583	@DISEASE$, also known as proliferative vasculopathy and hydrocephaly-hydranencephaly, is a lethal condition characterized by @PHENOTYPICFEATURE$ associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy.	has_symptom
+34337025c3965bda22716b96aa3429f32d288c5a	The diagnosis of proliferative vasculopathy and @PHENOTYPICFEATURE$-hydranencephaly (@DISEASE$) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester.	has_symptom
+1e3c6126cd4c702738652443d9379d749f87c6b5	@DISEASE$ is a rare autosomal recessive disorder characterized by hydranencephaly-@PHENOTYPICFEATURE$ and multiple pterygium due to fetal akinesia.	has_symptom
+90231156250e7dbff5d397d35c990cff05931516	@PHENOTYPICFEATURE$, photophobia and night-blindness in a middle-aged patient with a previous history of cancer are highly suggestive of @DISEASE$.	has_symptom
+df187ea09eaa6f01cfb1cf4b48a857af9905a3a6	A patient, who had a 35-year smoking history, complained of @PHENOTYPICFEATURE$ and was found to have serum antibodies that reacted with an extract of retina, including the previously described retinal @DISEASE$ antigen.	has_symptom
+c5b9f928e7d380c1aac49c464ac220905a166a55	@DISEASE$ (CAR) should be suspected in patients who present with visual symptoms such as rapid unexplained @PHENOTYPICFEATURE$ and seeing shimmering lights, with an abnormal ERG.	has_symptom
+2274fcf8f48b1acca61a68749a118399e817acba	The mechanism leading to @PHENOTYPICFEATURE$ in @DISEASE$ is not known.	has_symptom
+aad2c17729e8a203514d86844462fb4bae0eb4d3	Autoantibodies against alpha-enolase, a glycolytic enzyme, have been frequently associated with @PHENOTYPICFEATURE$ and retinal degeneration in patients with autoimmune and @DISEASE$; however their role in the pathogenicity of retinopathy has not been fully explained.	has_symptom
+82705ddb9e73f3a35a39e5f005d39b1ca2e61f0c	Autoantibodies against alpha-enolase, a glycolytic enzyme, have been frequently associated with visual loss and @PHENOTYPICFEATURE$ in patients with autoimmune and cancer-associated retinopathy; however their role in the pathogenicity of @DISEASE$ has not been fully explained.	false
+c1957aad85a5be7ba9a6b7290dd0e392e1696951	Autoantibodies against alpha-enolase, a glycolytic enzyme, have been frequently associated with visual loss and @PHENOTYPICFEATURE$ in patients with autoimmune and @DISEASE$; however their role in the pathogenicity of retinopathy has not been fully explained.	false
+fdcded0f1e61a802824a0b0989eed5d5b6325c74	Autoantibodies against alpha-enolase, a glycolytic enzyme, have been frequently associated with @DISEASE$ and @PHENOTYPICFEATURE$ in patients with autoimmune and cancer-associated retinopathy; however their role in the pathogenicity of retinopathy has not been fully explained.	false
+3f921664c35fc75aa26ab7bc3ec20f9c2171ea55	Paraneoplastic @PHENOTYPICFEATURE$ is an autoimmune disorder believed to be caused by the remote effects of cancer on the retina (@DISEASE$ [CAR]) or optic nerve.	has_symptom
+6c4b28d0bbfa33f07713654aad7642992e510e7c	The presence of recoverin or recoverin-like immunoreactivity in SCLC with @DISEASE$ supports the hypothesis that the cancer-retina immunologic cross-reaction contributes to @PHENOTYPICFEATURE$ in this syndrome.	has_symptom
+47d23dd6ff66a76e7926183e28f7c37334227ecc	It was a @DISEASE$ (CAR) in a woman with @PHENOTYPICFEATURE$, and attenuated and sheathed retinal arterioles.	has_symptom
+9254d3f7281325bb35acdeab1c6b441c8af962ec	To examine the retina and test the serum of a patient with @DISEASE$ syndrome who was diagnosed with small cell carcinoma of the lung and experienced unexpected @PHENOTYPICFEATURE$.	has_symptom
+b2eaf3884cc219ee41adc67b71f09bce0d9a7b26	This is a rare case of @DISEASE$ with a long interval (10?years) between the diagnosis of the malignancy and @PHENOTYPICFEATURE$.	has_symptom
+cc65a3984cc5b8fbd15f5b2922150a04e44ff1cc	MITF 3-bp deletions at amino acid position 217 have previously been described in patients with @DISEASE$ (TS), a clinical entity with hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+f1e61832ad6d134d50054589b63ac45be1569474	Patients with @DISEASE$ have congenital profound deafness and @PHENOTYPICFEATURE$, inherited in a fully penetrant autosomal dominant fashion.	has_symptom
+6e9bb02250b63ade5ea04bb127529c2758783e9f	Patients with @DISEASE$ have congenital profound @PHENOTYPICFEATURE$ and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion.	false
+b0ed99d68d0fe3e1a15968dd1f0e59688140c4de	Patients with Tietz syndrome have congenital profound @PHENOTYPICFEATURE$ and @DISEASE$, inherited in a fully penetrant autosomal dominant fashion.	false
+14c646cbef56d1c142e02c419d8c3ad6be1022f9	@DISEASE$ is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable @PHENOTYPICFEATURE$.	has_symptom
+05ebfb5539789f9486f7101fa3fa00cbe13f8ffd	Here, we report a case of @DISEASE$ in an 18-year-old patient with prolonged nephrotic syndrome who presented with @PHENOTYPICFEATURE$ and peripheral hypereosinophilia.	has_symptom
+f5f4a24dadda30e02fae24bc808bd48761507d06	@DISEASE$ (EG) is an uncommon disorder, characterised by cramping @PHENOTYPICFEATURE$, diarrhoea and vomiting and histologically by eosinophilic infiltration of bowel wall.	has_symptom
+954b78d884b47531c4a90008cea5b00d422fee29	Eosinophilic gastroenteritis (EG) is an uncommon disorder, characterised by cramping @DISEASE$, diarrhoea and @PHENOTYPICFEATURE$ and histologically by eosinophilic infiltration of bowel wall.	false
+180fbebf72c7c38746df0a06c57b96dcabc0d9b7	@DISEASE$ (EG) is an uncommon disorder, characterised by cramping abdominal pain, diarrhoea and @PHENOTYPICFEATURE$ and histologically by eosinophilic infiltration of bowel wall.	false
+cb2b0930cd0bc41e82cb1fd8fc2a655be8997f14	Eosinophilic gastroenteritis (EG) is an uncommon disorder, characterised by cramping abdominal pain, @DISEASE$ and @PHENOTYPICFEATURE$ and histologically by eosinophilic infiltration of bowel wall.	false
+7469e5ca5c246d4d214f9568e169399a79061ddc	In this case report, we present a patient with @DISEASE$ who had a history of bronchial asthma and presented with @PHENOTYPICFEATURE$.	has_symptom
+77401358bf8d6bf266d0c733a05d069ee868fbbb	Effective pharmacologic agents are available to treat EGUS and eliminate @PHENOTYPICFEATURE$, but more comprehensive measures of environmental and dietary management are needed to manage horses with @DISEASE$ and prevent recurrence.	has_symptom
+0b40c8e05b08aa7e586f1b5c71207f5e15bebb85	@DISEASE$ (EGE) is an uncommon disease characterized by eosinophilic infiltration of the gastrointestinal tract, which is usually associated with @PHENOTYPICFEATURE$, diarrhea, ascites, and peripheral eosinophilia.	has_symptom
+b42897f8cec137f7d57e7df06480c273a8373728	Depends on the involvement region of @DISEASE$, GI symptoms are variable including @PHENOTYPICFEATURE$, malabsorption, gastric and duodenal ulcer.	has_symptom
+75411a6c4e07b6f201ed36aa37d4be2bf72ed3a3	@DISEASE$ despite its uncommon occurrence is one of the most important primary eosinophilic gastrointestinal disorders, and most commonly presents with @PHENOTYPICFEATURE$.	has_symptom
+e4120c0b821daad4ec9c5c5d83efd440bc7b6545	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+412bc6293d3437fc1e8de882ee5b3063f201a36d	@DISEASE$ is a rare disorder presenting mostly with diarrhea, malabsorption, @PHENOTYPICFEATURE$, weight loss, and hypersensitivity.	has_symptom
+8fdfd420ab42cc8901863c247db93933bcd8b0d2	@DISEASE$ is a disease that is characterised by an eosinophil-driven inflammation of the digestive tract, presenting with non-specific symptoms, including @PHENOTYPICFEATURE$, nausea, and diarrhoea.	has_symptom
+3cbd9d12945945902938158a3070d5db62ea0bdb	@DISEASE$ (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, erythematous @PHENOTYPICFEATURE$, pericarditis and hepatosplenomegaly.	has_symptom
+21519cf5bd3857bcba32d1caa0ad58046ce8b706	@DISEASE$ (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+5069e839eabf0df847477ec6b954817d3e0cbee1	Systemic-onset juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of @DISEASE$, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+daaca82826e0d950f1d3d1f0745057208e1d2dd1	Systemic-onset juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ @DISEASE$, pericarditis and hepatosplenomegaly.	false
+a31d9cf3de78bb78cd65e166999a7b64dddd58e9	Systemic-onset juvenile idiopathic arthritis (s-JIA) is a rare @DISEASE$ classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+1bfb31bdc555f571ff75d48884a36e5a4f580a61	Langerhans cell histiocytosis, cutaneous forms of cancer (such as leukemia cutis, neuroblastoma, and rhabdomyosarcoma), developmental abnormalities such as neural tube or @PHENOTYPICFEATURE$, and @DISEASE$, nutritional deficiency, and immunodeficiency all have a range of cutaneous findings that will be reviewed herein to guide diagnosis and management.	has_symptom
+505c7017a457d9c8200d54078b14d592b67522c6	The clinical and ultrastructural findings suggest the possibility of toxic damage to melanocytes, perhaps with abnormalities of melanosome transfer, in lesions of @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+576ed6c3275209177659e8f445cf23247693c0f6	Ulcerative and @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+e4ceed1398822edc6d43bde0903d016cc09ee127	The dermatological aspects of eight negro patients with @PHENOTYPICFEATURE$ @DISEASE$ lesions are described.	has_symptom
+3558ebc86234ee335f63a00e16f5616009e25948	A patient with @PHENOTYPICFEATURE$ @DISEASE$ involving the face was treated with topical 8-methoxypsoralen and long wave ultraviolet light.	has_symptom
+ec322881ce70b572b553c49568112301668c56c6	Atypical or uncommon clinical presentation of classic diseases such as hypopigmented mycosis fungoides (HMF) and @PHENOTYPICFEATURE$ @DISEASE$ are also included.	has_symptom
+00d770a8530e98c615927d52fd42b4aa804775df	Treatment of @PHENOTYPICFEATURE$ @DISEASE$ with 8-methoxypsoralen and long wave ultraviolet light.	has_symptom
+3ec1fea141a39bc9c417d10282fa35e68eb49da6	Patients with severe @DISEASE$ (BD), if untreated, may exhibit seizures, psychomotor delay, @PHENOTYPICFEATURE$, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis.	has_symptom
+827f82f2cf1ff9465fb1c608c7b4baff45d223b3	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, @PHENOTYPICFEATURE$, visual pathology, conjunctivitis, alopecia, and @DISEASE$.	false
+d55cb3ebb3056799b405b5ea7b611b8cc5f7c176	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit @PHENOTYPICFEATURE$, psychomotor delay, @DISEASE$, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+f294da147205ce0e847f99cc1551c0cfad17b3ab	Patients with severe @DISEASE$ (BD), if untreated, may exhibit @PHENOTYPICFEATURE$, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+4ca0435567bce5f668b642082c8591dff2375ff0	Patients with severe @DISEASE$ (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, @PHENOTYPICFEATURE$, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+610fffec01bbce8f9819ec702e6b3f68daba0dcb	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit @PHENOTYPICFEATURE$, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and @DISEASE$.	false
+55c92181502a6888c90226799751c02932edcd8a	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, @DISEASE$, @PHENOTYPICFEATURE$, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+85c7d10e14b936cb9ec9485c2a668eb3e8074810	Unknown syndrome: congenital heart disease, @PHENOTYPICFEATURE$, hypodontia, and @DISEASE$.	has_symptom
+d317a55df011cff2f7c9fc9e709206833b5dffac	Unknown syndrome: congenital heart disease, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c85fa65eb58f650247da02ff77f4a0c85977d0cc	Unknown @DISEASE$: congenital heart disease, ptosis, @PHENOTYPICFEATURE$, and craniosynostosis.	false
+5e96b707370a085f2bb9501d46cd396791b6016d	Unknown syndrome: @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and craniosynostosis.	false
+a98dc80fc75c9869a984cc7ab51f28c78d88a2e7	Unknown syndrome: congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, and craniosynostosis.	false
+e75238a46a17c96389a984802fde61849b6b6bee	All had @DISEASE$ (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had @PHENOTYPICFEATURE$, low frontal hairline, and external ear anomalies.	has_symptom
+f8785ccdac4e3ac973d50ac07878d2612e3c9df0	All had craniosynostosis (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had @DISEASE$, low frontal hairline, and external @PHENOTYPICFEATURE$.	false
+47430f1ca7e3c6a64b71fe5c7555039a390f2579	All had @DISEASE$ (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had eyelid ptosis, low frontal hairline, and external @PHENOTYPICFEATURE$.	false
+e2037e20d9681dc9f149c560dbdda7ca36d14119	We present two unrelated boys with @DISEASE$ and similar facial features including hypertelorism, down-slanted palpebral fissures, @PHENOTYPICFEATURE$, broad mouth with a thin upper lip, and preauricular pits.	has_symptom
+e34be756cdedfc3f8049f6e566ea08080af88301	We present two unrelated boys with craniosynostosis and similar facial features including @PHENOTYPICFEATURE$, down-slanted palpebral fissures, @DISEASE$, broad mouth with a thin upper lip, and preauricular pits.	false
+e5917e34909c6899751a5ef34b28f01379ace395	We present two unrelated boys with @DISEASE$ and similar facial features including hypertelorism, down-slanted palpebral fissures, ptosis, broad mouth with a @PHENOTYPICFEATURE$, and preauricular pits.	false
+bdb072ddf3dffde9d7947a67592b7d939845a885	We present two unrelated boys with craniosynostosis and similar facial features including hypertelorism, down-slanted palpebral fissures, @DISEASE$, broad mouth with a @PHENOTYPICFEATURE$, and preauricular pits.	false
+7fb31e21130b2e1d031e2711a257d13ed036026c	We present two unrelated boys with @DISEASE$ and similar facial features including @PHENOTYPICFEATURE$, down-slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits.	false
+3647f09bf554d792dd7270c65783ac0f9c31f467	We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency.	has_symptom
+fcdd23d9f684b5fec748565e98375296b3793f3b	We report on a 3-year-old girl with Michels @DISEASE$, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and @PHENOTYPICFEATURE$.	false
+5038aa46ae6166fe4b4330ae80e67e55f56bf62c	We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, @DISEASE$, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and @PHENOTYPICFEATURE$.	false
+4bc0ceed31e2cd1bd36ab589d727791f73dbdd90	We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by @DISEASE$, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and @PHENOTYPICFEATURE$.	false
+e01ad1873647b335d9d6d0bc6f6e7dd004110666	We report on a 2-year-old girl with Michels syndrome, a condition characterized by mental deficiency, @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, and epicanthus inversus.	has_symptom
+1b209100267e821f09362671d97fd67f1440dd3c	We report on a 2-year-old girl with Michels @DISEASE$, a condition characterized by @PHENOTYPICFEATURE$, craniosynostosis, blepharophimosis, ptosis, and epicanthus inversus.	false
+9e8ff4407fd3121c97f0805fbd4b1a4f4dd995a0	We report on a 2-year-old girl with Michels syndrome, a condition characterized by @PHENOTYPICFEATURE$, craniosynostosis, blepharophimosis, @DISEASE$, and epicanthus inversus.	false
+7c291cf3f57c2c0300d3da5c61dd90618e1c8135	We report on a 2-year-old girl with Michels syndrome, a condition characterized by @PHENOTYPICFEATURE$, @DISEASE$, blepharophimosis, ptosis, and epicanthus inversus.	false
+b70b0eb3a944c67cc9d19ec41f098906d9d4e1d8	He presented with tetralogy of Fallot, cleft palate, microcephalus without @DISEASE$, growth retardation, @PHENOTYPICFEATURE$ of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and mental retardation.	has_symptom
+243cf65d0da0b6717a28ad5dae4876842db2cd1a	He presented with tetralogy of Fallot, @PHENOTYPICFEATURE$, microcephalus without craniosynostosis, growth retardation, @DISEASE$ of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and mental retardation.	false
+d66f5b4fadf3ced81b2913e43bd82699760d0420	He presented with tetralogy of Fallot, cleft palate, microcephalus without craniosynostosis, growth retardation, @DISEASE$ of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and @PHENOTYPICFEATURE$.	false
+f89129c5d03b0dab6acf409844b55002278203e6	He presented with tetralogy of Fallot, @PHENOTYPICFEATURE$, microcephalus without @DISEASE$, growth retardation, ptosis of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and mental retardation.	false
+7de34e2853012e433bd812b6942450a9d2fed3fd	He presented with tetralogy of Fallot, cleft palate, microcephalus without @DISEASE$, @PHENOTYPICFEATURE$, ptosis of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and mental retardation.	false
+3742cc49bc7c368aaff3aab71c89f61bbeda8f22	He presented with tetralogy of Fallot, cleft palate, microcephalus without @DISEASE$, growth retardation, ptosis of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and @PHENOTYPICFEATURE$.	false
+d41ce4052e129e383c522f898ac5062bc2a5fb58	He presented with tetralogy of Fallot, cleft palate, microcephalus without craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$ of the right eyelid, right-sided renal agenesis, unilateral cryptorchism,and mental retardation.	false
+367498ba52d19f24c16fce9804f3a2384552b188	These individuals have overlapping phenotypes that include @PHENOTYPICFEATURE$, metopic ridging, @DISEASE$, dysgenesis of the corpus callosum, and developmental delay.	has_symptom
+0461837a970270cff52787fee233b9c503b9ba79	The patient reported here presented with @DISEASE$, @PHENOTYPICFEATURE$, brachydactyly and syndactyly of toes.	has_symptom
+a7dbb9d26ada2d46edc50f918101006d87f8275c	The patient reported here presented with craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$ and syndactyly of toes.	false
+a71849673d4e8ff02461e3d27a8320476fa6934e	The patient reported here presented with @DISEASE$, ptosis, @PHENOTYPICFEATURE$ and syndactyly of toes.	false
+06ac526d66b4394e7a1e80458eaf33a6f7308968	The patient reported here presented with craniosynostosis, ptosis, @PHENOTYPICFEATURE$ and @DISEASE$ of toes.	false
+08ea52be4fdee034a7621a41c29fcb6dee5a5290	Saethre-Chotzen syndrome is an autosomal dominant disease characterized by @DISEASE$, @PHENOTYPICFEATURE$, and limb and external ear abnormalities.	has_symptom
+61b66c0cb24ed1040d310631d17bec2026b869a6	This patient had hypertelorism, sagittal and coronal @DISEASE$, @PHENOTYPICFEATURE$, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development.	has_symptom
+5b4fb6bd18d9cde98de566cb7b4628a137dffc36	This patient had @PHENOTYPICFEATURE$, sagittal and coronal craniosynostosis, @DISEASE$, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development.	false
+55f7088978ca253ad70c2cfad6afc8ac102fa55d	This patient had @PHENOTYPICFEATURE$, sagittal and coronal @DISEASE$, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development.	false
+871682b81309249cfb322acaf7c3b463ab37682d	@DISEASE$: successful treatment of ulcerations, pain, Raynaud's phenomenon, calcinosis, and @PHENOTYPICFEATURE$ by transcutaneous nerve stimulation.	has_symptom
+5b08db4a2f99be55b858bdf45f41043e59ca0a52	To describe the temporal bone histopathology in 2 individuals with XP (XPA and @DISEASE$) with neurologic degeneration and to discuss the possible causes of @PHENOTYPICFEATURE$ in these patients.	has_symptom
+6cac1133137fa489091bd6f006b66603cb71a2bf	@PHENOTYPICFEATURE$ and the differentiation of rheumatoid arthritis from @DISEASE$.	has_symptom
+747b3816e9c7f9df6e9eff7c4f02bc506136e31c	The @DISEASE$ is a general disease on immunological basis caused by an infection with beta-haemolysing streptococci of group A. The disease appears as visceral form (carditis rheumatica, chorea minor) or as peripheral manifestation (acute polyarthritis, erythema anulare, @PHENOTYPICFEATURE$, purpura rheumatica).	has_symptom
+29216404b49fbf09444a352f6c345db79b5ee855	@DISEASE$ is characterized by polyarthritis, carditis, chorea, @PHENOTYPICFEATURE$, and erythema marginatum as the major diagnostic criteria.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+080f1ec2d7cfdeee1874ea470cce62a420e8d235	Nonneurologic manifestations of @DISEASE$ were carditis (44%), arthritis (11%), erythema marginatum (3%), and @PHENOTYPICFEATURE$ (0%).	has_symptom
+17087c3f9e1183aa328dc22587aa718abccc9c2f	@PHENOTYPICFEATURE$ developed following the subcutaneous injection of autologous blood in 16 of 26 patients with @DISEASE$ but in none of the 20 with inactive rheumatic heart disease (P = 0.00001).	has_symptom
+668654aa1a2c29b87f6e2f8d750c691973007eda	A combination of three variables (artificial @PHENOTYPICFEATURE$, IgA, and C3) had a sensitivity of 87% and a specificity of 100% for @DISEASE$.	has_symptom
+80971c09e519f8a42378ffed67fade470f329cd7	@DISEASE$ (SEMDJL2) is an autosomal dominant skeletal dysplasia which is characterized by midface hypoplasia, @PHENOTYPICFEATURE$, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers.	has_symptom
+17ad7573ced322b66bf767689e5bd774fb24c311	Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) is an autosomal dominant @PHENOTYPICFEATURE$ which is characterized by midface hypoplasia, @DISEASE$, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers.	false
+76a736da3303b98dd92e006fa30b486ba989362c	@DISEASE$ (SEMDJL2) is an autosomal dominant @PHENOTYPICFEATURE$ which is characterized by midface hypoplasia, short stature, joint laxity with dislocations, genua valga, progressive scoliosis, and slender fingers.	false
+40a01e0dd158e35433746dba8c419e9a0913b9ab	Spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) is an autosomal dominant @PHENOTYPICFEATURE$ which is characterized by midface hypoplasia, short stature, joint laxity with dislocations, genua valga, progressive @DISEASE$, and slender fingers.	false
+bf01cf4232b7ac6302c175796563f9bc61b85e67	@DISEASE$ (SEMDJL2), is a rare disorder due to a KIF22 gene mutation and characterized by postnatal @PHENOTYPICFEATURE$, midface hypoplasia and generalized ligamentous laxity.	has_symptom
+a868c09e7e9629fb771e07982411c7361bd55060	Notably, these double mutants exhibited @DISEASE$ development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and @PHENOTYPICFEATURE$ and seizures.	has_symptom
+03197a825457b2109b4f60d835d11099a63cbd8f	Notably, these double mutants exhibited @DISEASE$ development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and ataxia and @PHENOTYPICFEATURE$.	false
+03ed72f6f3c0ce4df816bc8a668b4039d6727e55	Notably, these double mutants exhibited AT/RT development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and @DISEASE$ and @PHENOTYPICFEATURE$.	false
+aa248cb51cfa2036712fabc619a6d3814006741f	@PHENOTYPICFEATURE$ and health-related quality of life in patients with @DISEASE$: a long-term follow-up.	has_symptom
+43eef33b3e514ed28a4c8892fd4df27e2f9885b5	The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, @DISEASE$ with broad nasal bridge and hypertelorism, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild @PHENOTYPICFEATURE$ with onset in childhood.	has_symptom
+d9c85e70b58c1d0ca4827c48d083ff1aed2c7c40	The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad nasal bridge and @PHENOTYPICFEATURE$, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild @DISEASE$ with onset in childhood.	false
+7731c0cf897052888cd4a3e1ff4b3b85ac44d9fa	The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, @DISEASE$ with broad nasal bridge and @PHENOTYPICFEATURE$, frontal bossing and large anterior fontanel in childhood, narrow ear canals, and mild conductive hearing loss with onset in childhood.	false
+6125624a90af32703a4d60376db7fa2777c905f1	SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+428988839858af854b1aa61eee89293bcd44292e	SIX2 gene haploinsufficiency leads to a recognizable phenotype with @PHENOTYPICFEATURE$, @DISEASE$, and conductive hearing loss.	false
+1213cfe9b08e8d6722d624d7d56c1bb3c8eb4b08	SIX2 gene haploinsufficiency leads to a recognizable phenotype with @PHENOTYPICFEATURE$, frontonasal dysplasia, and @DISEASE$.	false
+22a60d471d29d8e977e2b265519b0af2d4c3355f	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of @DISEASE$ and hemolytic uremic syndrome.	has_symptom
+aebdd7b8bd492ba0209ab28102f4ffa1d99cbe4a	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @PHENOTYPICFEATURE$, renal failure, and neurologic symptoms comprise the cardinal features of @DISEASE$ and hemolytic uremic syndrome.	false
+9a621a972f8c7be6866b92df3b763030428b1e1b	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @PHENOTYPICFEATURE$, @DISEASE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+8d7ee94e1611b96d86f672ef47a090748a1971c2	Microangiopathic hemolytic anemia (MAHA), @DISEASE$, @PHENOTYPICFEATURE$, renal failure, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+d5e7fef09dce0337317cc396ef13112731833925	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @PHENOTYPICFEATURE$, renal failure, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and @DISEASE$.	false
+0799ee276e451cff642279ef723aae5860d547b5	Microangiopathic @DISEASE$ (MAHA), thrombocytopenia, @PHENOTYPICFEATURE$, renal failure, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+8cba043cf07a73c84b2ba3f50deab64ea8d74db6	A diagnosis of @DISEASE$ (TTP) was made when @PHENOTYPICFEATURE$, microangiopathic hemolytic anemia, and thrombocytopenia subsequently developed.	has_symptom
+9ba9e783bd5fc3dae6fbe04e36d20d2171a1ff9d	A successful renal transplantation for @PHENOTYPICFEATURE$ after dasatinib-induced @DISEASE$ in a patient with imatinib-resistant chronic myelogenous leukaemia on nilotinib.	has_symptom
+4f2bbe9ba153a8d2da242686126388da0aa28f0f	A 26-year-old man with @DISEASE$ resulting in respiratory and @PHENOTYPICFEATURE$ was treated with plasmapheresis (PP).	has_symptom
+920d2f156ea803781ace4375fa06e46f53d7d907	Modern transplant immunosuppression, however, is associated with a host of complications such as opportunistic infections, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+e152929c6949994274701ae7537a20b848d514cf	A 46-year-old man, with @DISEASE$ and @PHENOTYPICFEATURE$, received splenectomy because complete remission was not achieved after the treatments such as plasma exchange, antiplatelet agents and corticosteroid.	has_symptom
+b289d4e8f8991459d3f2e1e2ec5d1655d597a996	Other associated diseases included toxemia of pregnancy, @PHENOTYPICFEATURE$, systemic lupus erythematosus, disseminated intravascular coagulation, and @DISEASE$.	has_symptom
+fcbcb48a8500f52a6208bc618b96558c98bba9fc	Other associated diseases included toxemia of pregnancy, renal failure, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, and @DISEASE$.	false
+03d3613ee8b1c1ceeca4aa08aaec4e469511af3b	Other associated diseases included toxemia of pregnancy, @DISEASE$, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, and thrombotic thrombocytopenic purpura.	false
+d9041257e8e16a4f97f288ff2b38e61ba4592074	@PHENOTYPICFEATURE$ and posterior reversible encephalopathy syndrome in patients with @DISEASE$.	has_symptom
+56797c7aa8381fcbede69b756daa6b22da1ac264	Of the 63 patients, 19 had a clinical presentation of @DISEASE$, 18 had hemolytic uremic syndrome and 26 had combined neurologic and @PHENOTYPICFEATURE$.	has_symptom
+e8b32ac16a5d69dab69786a1408feb5d655dbbfa	The diagnosis of @DISEASE$ (TTP) was made, though the patient did not suffer from manifestations of impaired microcirculation like neurological symptoms or @PHENOTYPICFEATURE$.	has_symptom
+b5511c23ec8dc152f96a7cb4e5582cf23399d029	These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDSN, APCDD1 and SNRPE for the @PHENOTYPICFEATURE$ form of hypotrichosis simplex, and the genes DSG4, LIPH and LPAR6 for the autosomal recessive forms of @DISEASE$ as well as U2HR for hypotrichosis type Marie Unna.	has_symptom
+717b7cbf07966f84930d9b28177faeb8f6e43fb9	These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDSN, APCDD1 and SNRPE for the @PHENOTYPICFEATURE$ form of hypotrichosis simplex, and the genes DSG4, LIPH and LPAR6 for the autosomal recessive forms of hypotrichosis as well as U2HR for @DISEASE$ type Marie Unna.	has_symptom
+2ce172929694d09d9b827f3b478553fcc27a2c8d	An S734L mutation in LPIN2 causes @DISEASE$, a human inflammatory disorder characterized by recurrent osteomyelitis, @PHENOTYPICFEATURE$, dyserythropoietic anemia, and cutaneous inflammation.	has_symptom
+8d32439854097fcc8fc3394ee6223eccae3983d6	Hallermann-Streiff-Fran?@DISEASE$ syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of @PHENOTYPICFEATURE$, ocular abnormalities, and a "bird-like head".	has_symptom
+01e220d217e7179afeb6e46f2755d8e3b0be89b0	@DISEASE$ (OI) is characterized by fragile bones, skeletal deformity, and @PHENOTYPICFEATURE$.	has_symptom
+04172f342207937f5105ba1178c5936835d7c576	@DISEASE$ (OI) is characterized by severe bone deformities, @PHENOTYPICFEATURE$ and bones that break easily, often from little or no apparent cause.	has_symptom
+02392adc92d8b32863bb839d387eabb268d7fbc6	@DISEASE$ (OI) or "brittle bone" disease is characterized by fragile bones, skeletal deformity, and @PHENOTYPICFEATURE$.	has_symptom
+3c3b663e6c51ab1699e9916cb87b435cf4e7dfcd	Osteogenesis imperfecta (OI) or "@DISEASE$ is characterized by fragile bones, skeletal deformity, and @PHENOTYPICFEATURE$.	has_symptom
+9861b12510829edf4ab02849f6b6ef7d7ca3b738	@DISEASE$ (OI) is an hereditary disease affecting conective tissue, mainly associated to @PHENOTYPICFEATURE$ and pathological fractures.	has_symptom
+eb03be0d1c73ffac8038b4d8af4219add874ced5	@DISEASE$ is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, @PHENOTYPICFEATURE$, and diabetes mellitus.	has_symptom
+9f83382d0e115e4b93b349d61b6d8fbf05c8873e	Aceruloplasminemia is a rare autosomal recessive @DISEASE$ associated with brain and liver iron accumulation which typically presents with @PHENOTYPICFEATURE$, retinal degeneration, and diabetes mellitus.	false
+916e91b7b7289f05831c2530e798db4462bfd585	@DISEASE$ is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with @PHENOTYPICFEATURE$, retinal degeneration, and diabetes mellitus.	false
+8d9c9d3b6d184613b9bd1db6718ba3b90c73e41e	Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with @PHENOTYPICFEATURE$, retinal degeneration, and @DISEASE$.	false
+bc8b230127ab285484875e4c3038901f02b76376	Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with @PHENOTYPICFEATURE$, @DISEASE$, and diabetes mellitus.	false
+bb87c2a5baa9daf39fe08e670462ca5e3e890278	While it has been known for years that iron overload is associated with @PHENOTYPICFEATURE$ in the context of ocular siderosis, intraocular hemorrhage, and the hereditary diseases @DISEASE$ and pantothenate kinase associated neurodegeneration, recent evidence suggests that age-related macular degeneration (AMD) may also be exacerbated by retinal iron overload.	has_symptom
+dc501a8a81d6937c83cb9e6501efde88e6ab174f	@DISEASE$ is an autosomal recessive disorder of iron metabolism characterized by diabetes, @PHENOTYPICFEATURE$, and neurologic symptoms.	has_symptom
+fb5bafb5044b368ee8e3026e0326345bebe857c9	@DISEASE$ is characterized by diabetes, @PHENOTYPICFEATURE$, and progressive neurological symptoms, including extrapyramidal symptoms, ataxia, and dementia.	has_symptom
+e9e5353bda555fa938c1c065012ff8813185e4c3	@DISEASE$ is characterized by diabetes, retinal degeneration, and progressive neurological symptoms, including extrapyramidal symptoms, @PHENOTYPICFEATURE$, and dementia.	false
+9e3391ee30f27d32d21e1c2a3ec5cc4a4b3e61f0	Aceruloplasminemia is characterized by diabetes, @DISEASE$, and progressive neurological symptoms, including extrapyramidal symptoms, @PHENOTYPICFEATURE$, and dementia.	false
+8225aec031a5b90356cff6faf76396136b68caf9	Aceruloplasminemia is characterized by diabetes, retinal degeneration, and progressive neurological symptoms, including extrapyramidal symptoms, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+675c8d1e41dc68acd85368f0edd34f6dc855ca8e	A @DISEASE$ results in massive accumulations of iron in the liver and brain and is associated with @PHENOTYPICFEATURE$ and diabetes.	has_symptom
+ad6e0bfad54aa8e8b8dc1410575b0c2b25718f64	Clinically, @DISEASE$ is a triad consisting of neurologic disease, @PHENOTYPICFEATURE$, and diabetes.	has_symptom
+dfe8e31f4099fb7cfa08f07ec3e55907d65e1343	Retinal iron buildup resulting from hereditary iron homeostasis disorders @DISEASE$, Friedreich's ataxia, and panthothenate kinase-associated neurodegeneration cause @PHENOTYPICFEATURE$.	has_symptom
+4c14018a6eb317cd0d3649ae093cfbfadca0e225	Retinal iron buildup resulting from hereditary iron homeostasis disorders @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, and panthothenate kinase-associated neurodegeneration cause retinal degeneration.	false
+2374e9dfb047756022fff4223fcc0c6a8427753b	Retinal iron buildup resulting from hereditary iron homeostasis disorders aceruloplasminemia, Friedreich's @PHENOTYPICFEATURE$, and panthothenate kinase-associated neurodegeneration cause @DISEASE$.	false
+ce397f139cd5f50bee3dfc783b094885a938bbd7	When constitutional symptoms such as myalgia, weight loss, fatigue, @PHENOTYPICFEATURE$, and hypertension were added to the clinical picture, the diagnosis of @DISEASE$ HSP was thought and confirmed by the demonstration of microaneurisms on renal arteries.	has_symptom
+22c3392b00c3e2c7c7e418e929e6f16d68f66de2	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, @PHENOTYPICFEATURE$, asthenia, peripheral neuropathy, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and cardiac failure.	has_symptom
+6b10f5450dd7a89ad59bf2180ff41742d7255639	Polyarteritis nodosa (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, @DISEASE$, asthenia, @PHENOTYPICFEATURE$, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and cardiac failure.	false
+c8e7981e4e4fb948a905cc0e8372c9d24fc28306	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, fever, asthenia, @PHENOTYPICFEATURE$, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and cardiac failure.	false
+534fcc82ca99f3137ba4f859050c62a938c7d0c8	Polyarteritis nodosa (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, @DISEASE$, asthenia, peripheral neuropathy, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and @PHENOTYPICFEATURE$.	false
+bb3c8879850e8f9a65c67d99e1f603851aa6d7c9	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, fever, asthenia, peripheral neuropathy, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and @PHENOTYPICFEATURE$.	false
+c7a8fa089deea46e5ff23bb9912373e6ee48fe1b	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, @PHENOTYPICFEATURE$, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	has_symptom
+26c20adc87a3e32c2b4ba7ce30e8e2923bc07bb9	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, fever, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+7cfb035fc669338c20699fe439a9351ceb212164	Polyarteritis nodosa (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, @DISEASE$, @PHENOTYPICFEATURE$, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	false
+464008408a3064a15976296be977a3163ad5cc66	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, fever, @PHENOTYPICFEATURE$, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	false
+5074f6403293a5ac6562289175af4ac4f9fa64b9	Polyarteritis nodosa (PAN) is a necrotizing @DISEASE$ affecting medium-sized vessels whose main manifestations are weight loss, fever, @PHENOTYPICFEATURE$, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or cardiac failure.	false
+d83b128ac492d0204bb238a5b9607646e63df1e0	Polyarteritis nodosa (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, @DISEASE$, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+a88b20cba69043e7d59d09125c3157a3d4a5b453	Polyarteritis nodosa (PAN) is a necrotizing @DISEASE$ affecting medium-sized vessels whose main manifestations are weight loss, fever, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+8805213ed65167fff26af52beceaf98593be00ef	MIDAS syndrome (@PHENOTYPICFEATURE$, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from @DISEASE$.	has_symptom
+f829b2cc593b123456e68b4c3de06cbc08bf8b54	In humans, PORCN mutations cause @DISEASE$ (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is frequently accompanied by ocular abnormalities such as coloboma, @PHENOTYPICFEATURE$, or even anophthalmia.	has_symptom
+02eed5cd297e68bf96fe754531ad7f631da514f0	In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or @DISEASE$), an X-linked dominant multisystem birth defect that is frequently accompanied by ocular abnormalities such as coloboma, @PHENOTYPICFEATURE$, or even anophthalmia.	has_symptom
+cb890c18a5cfb66290b6209c3b7b6e330bcd4bae	Encephalocraniocutaneous lipomatosis, @DISEASE$ and @PHENOTYPICFEATURE$ with linear skin defects (MLS) syndrome are discussed as the most important differential diagnostic entities.	has_symptom
+0d755df70118d5933782840a5a8a3e19529aa0ae	Goltz-Gorlin (@DISEASE$) and the @PHENOTYPICFEATURE$ with linear skin defects (MLS) syndrome: no evidence of genetic overlap.	has_symptom
+253730b78441cd276902ffb22d554593b65afc30	The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: @PHENOTYPICFEATURE$ with linear skin defects (MLS) syndrome, Aicardi syndrome, and Goltz syndrome (@DISEASE$).	has_symptom
+49b9921fe352f4c150ebc20e191dfcbe6212fa09	The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: @PHENOTYPICFEATURE$ with linear skin defects (MLS) syndrome, Aicardi syndrome, and @DISEASE$ (focal dermal hypoplasia).	has_symptom
+42a7793b21afff374a2b8d7c3c32c87741cdf399	@DISEASE$ (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and @PHENOTYPICFEATURE$ or anophthalmia.	has_symptom
+8704207876dc543e02596a4a71ff50e8aaa84eb6	Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/@PHENOTYPICFEATURE$, and genitourinary anomalies: nosology of @DISEASE$ versus EEC syndrome.	has_symptom
+a77a04dc482fd8c6edbc7f314bf016aad3a26234	@DISEASE$, @PHENOTYPICFEATURE$, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.	false
+f8424f28655b76a00bfdb4019f7a6029f783ac60	Ectodermal dysplasia, @PHENOTYPICFEATURE$, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus @DISEASE$.	false
+31c1d70fb0533b9fee67282f65bdb2c83ad1023a	Ectodermal dysplasia, @PHENOTYPICFEATURE$, clefting, anophthalmia/@DISEASE$, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.	false
+365cc516030886732ff58a20a411eb88e1dec3cd	Ectodermal dysplasia, @PHENOTYPICFEATURE$, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of @DISEASE$ versus EEC syndrome.	false
+b8d9eee7beab01259db7e921b5d5e0d587a1969d	Regional skin hypoplasia has been described in several genetic syndromes, including @DISEASE$ (FDH), @PHENOTYPICFEATURE$ with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP).	has_symptom
+5f80826e8c761e07380a2097243d2736486684cf	Ocular abnormalities frequently found in patients with @DISEASE$ include @PHENOTYPICFEATURE$, anophthalmos, and colobomas.	has_symptom
+14e21e0d858772a22541ccb0308cfcabf6267a24	The features described are similar to those found in conditions including @DISEASE$, @PHENOTYPICFEATURE$ with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects.	has_symptom
+7cb40f3e1b48cfb7fef671f1ba8713b94093dd9d	Here we describe 5 adolescent and adult patients from 2 unrelated families, who presented with a @PHENOTYPICFEATURE$ and MRI features suggestive of @DISEASE$.	has_symptom
+c32b4e0a9a05735f5e91e817d8a1876ba274f430	Girls with @DISEASE$ have microphthalmia with linear skin defects of face and neck, sclerocornea, @PHENOTYPICFEATURE$ and other brain anomalies.	has_symptom
+386792f7c8037f2ec4002734b40562bc8a2db991	Girls with MLS syndrome have @PHENOTYPICFEATURE$ with linear skin defects of face and neck, sclerocornea, @DISEASE$ and other brain anomalies.	false
+67e051a2efbd138b4843064af44299242ed38520	Girls with @DISEASE$ have @PHENOTYPICFEATURE$ with linear skin defects of face and neck, sclerocornea, corpus callosum agenesis and other brain anomalies.	false
+676d4514abfc679c7425f639b3464d5acb0d8cae	Haploinsufficiency of ANKRD11 due to deletion or truncation mutations causes @DISEASE$, a rare genetic disorder characterized by @PHENOTYPICFEATURE$, autism spectrum disorder, and craniofacial abnormalities.	has_symptom
+788641b4dd2753bdc5cd64986c22575780d1cb6a	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by short stature, characteristic facial appearance, @PHENOTYPICFEATURE$, macrodontia, and skeletal anomalies.	has_symptom
+c1372839b46750fd6a60b4d3cfbcafaa9f16143b	Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, @DISEASE$, macrodontia, and @PHENOTYPICFEATURE$.	false
+49df6f922ee8a3fe5fe08250254c6e8740a878f2	Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, @DISEASE$, macrodontia, and skeletal anomalies.	false
+96e6c1b9e304fe3d24ae96c1f1f4486ae4fb1df3	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies.	false
+3c5c0f452a72d0595e1b01054b0bef9cbb404b8d	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and @PHENOTYPICFEATURE$.	false
+7fd6676a753fc01a70d3c6e341e6d7cf32758c15	Mutations in ANKRD11 have recently been reported to cause @DISEASE$, an autosomal dominant condition characterized by @PHENOTYPICFEATURE$ (ID), behavioral problems, and macrodontia.	has_symptom
+ff1df578e21f60b9c348ab634f8798bbf9422053	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and skeletal anomalies.	has_symptom
+4230bd849ae692984bd3dd6eb7c9e7227c2355bc	@DISEASE$ is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and @PHENOTYPICFEATURE$.	false
+c294186e81f2fd04c3c235f71c335017d9357ef2	KBG syndrome is a rare disease characterized by @DISEASE$, typical craniofacial dysmorphism, macrodontia of the upper central incisors, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+78766ca4595fbc37c2a6cd8f49bb33fde6e53273	KBG syndrome is a rare disease characterized by @DISEASE$, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and @PHENOTYPICFEATURE$.	false
+d82df9357b1b1e89e03e9179eb78ef617f79877f	@DISEASE$ is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+a200d69a58afe534111bb8c4b5b6fcfb19f1bf92	@DISEASE$ (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, @PHENOTYPICFEATURE$, skeletal, and neurologic involvement.	has_symptom
+53c76ebe9b1732d18a5ffebd1295b811d0447c99	@DISEASE$ (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, @PHENOTYPICFEATURE$, intellectual disability, skeletal, and neurologic involvement.	false
+84c06c9d3a210f46dd7a2f2662693b5274abb12c	KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, @PHENOTYPICFEATURE$, @DISEASE$, skeletal, and neurologic involvement.	false
+e702c45711e0268e2d958c25c3b3c01308fcbd5b	KBG syndrome (OMIM 148050) is a very rare @DISEASE$ characterized by macrodontia, distinctive craniofacial abnormalities, @PHENOTYPICFEATURE$, intellectual disability, skeletal, and neurologic involvement.	false
+746ccc6c54436debda959633c3acbcf424feaca9	Mutations in ANKRD11 cause @DISEASE$, characterized by @PHENOTYPICFEATURE$, skeletal malformations, and macrodontia.	has_symptom
+9668d5c453074ad64971563e8ad184123601f910	@DISEASE$ is a rare disorder characterized by @PHENOTYPICFEATURE$ and associated with macrodontia of the upper central incisors, specific craniofacial findings, short stature and skeletal anomalies.	has_symptom
+9fca0e50921de046d6f3e3bd0c2a189a9f338a67	KBG syndrome is a rare disorder characterized by @DISEASE$ and associated with macrodontia of the upper central incisors, specific craniofacial findings, @PHENOTYPICFEATURE$ and skeletal anomalies.	false
+2d18b6ca8bd06365ab7765aaf9524d49b3a8fcbe	@DISEASE$ is a rare disorder characterized by intellectual disability and associated with macrodontia of the upper central incisors, specific craniofacial findings, short stature and @PHENOTYPICFEATURE$.	false
+791ad9c930fa55a0996fdae6551952a2941df4e4	@DISEASE$ is a rare disorder characterized by intellectual disability and associated with macrodontia of the upper central incisors, specific craniofacial findings, @PHENOTYPICFEATURE$ and skeletal anomalies.	false
+df30141097f193a2df2bfc3f31470e8ae06b4d4f	KBG syndrome is a rare disorder characterized by @DISEASE$ and associated with macrodontia of the upper central incisors, specific craniofacial findings, short stature and @PHENOTYPICFEATURE$.	false
+120a848b21314b9f33d5341336bec659d8e0ef29	We report the sporadic case of a boy with clinical features of @DISEASE$, including slight @PHENOTYPICFEATURE$, characteristic facies, macrodontia, and skeletal anomalies.	has_symptom
+26e16fbb2f8710bdad4c9e0d3d4307fb883cc52f	We report the sporadic case of a boy with clinical features of KBG syndrome, including slight @DISEASE$, characteristic facies, macrodontia, and @PHENOTYPICFEATURE$.	false
+3bfbcf7806110c469ace67d2b9ec9526d2a23203	We report the sporadic case of a boy with clinical features of @DISEASE$, including slight mental retardation, characteristic facies, macrodontia, and @PHENOTYPICFEATURE$.	false
+96da5245faeacec62b3f4f113d7ac1bf6f58a740	It is argued that diagnostic criteria for @DISEASE$ should include neurological involvement, that is, global developmental delay, seizures, and/or @PHENOTYPICFEATURE$ (MR).	has_symptom
+5fd04a08e44e609c4cddf2816666ea41a0201cc7	It is argued that diagnostic criteria for KBG syndrome should include neurological involvement, that is, global developmental delay, @PHENOTYPICFEATURE$, and/or @DISEASE$ (MR).	false
+5236fac9742e121adc50cc4253f42cc9463ce693	It is argued that diagnostic criteria for @DISEASE$ should include neurological involvement, that is, global developmental delay, @PHENOTYPICFEATURE$, and/or mental retardation (MR).	false
+b3587d0e59b44b9bdafcbde37d0233ebb8eab7b3	The similarity with and the relationship to the @DISEASE$ is discussed and the importance of clinical syndrome identification in familial @PHENOTYPICFEATURE$ is emphasised.	has_symptom
+456169e07422f99503e4ab46e667d1b11c3eec82	Turner's syndrome (TS) is characterized by typical @DISEASE$ features, short stature, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and @PHENOTYPICFEATURE$.	has_symptom
+051327342685c33e8c13c5a789c39ac67ffbfb78	Turner's syndrome (TS) is characterized by typical facial features, short stature, @PHENOTYPICFEATURE$, streak gonads, infertility, hearth and @DISEASE$.	false
+5e5f4979079d3864bc1732d34da7206574035543	Turner's syndrome (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, @DISEASE$, streak gonads, infertility, hearth and kidney malformations.	false
+dd2bf5d477fa01bea52c9482d318640ff94fa28a	Turner's syndrome (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, @DISEASE$, hearth and kidney malformations.	false
+ac725040982ddf97b591c2b039e24cf0fb5ab479	Turner's syndrome (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and @DISEASE$.	false
+008fd4a19f59929fb031e82630d6349d3fd3ebc1	Turner's @DISEASE$ (TS) is characterized by typical facial features, short stature, @PHENOTYPICFEATURE$, streak gonads, infertility, hearth and kidney malformations.	false
+64cab6fe59058a960886ceac0014d60a43976c8d	Turner's syndrome (TS) is characterized by typical @DISEASE$ features, short stature, @PHENOTYPICFEATURE$, streak gonads, infertility, hearth and kidney malformations.	false
+0d3b343d744d446e119855c2faf377eb2faeffdb	Turner's syndrome (TS) is characterized by typical facial features, short stature, @PHENOTYPICFEATURE$, streak gonads, @DISEASE$, hearth and kidney malformations.	false
+383dbb3af2d523756e443b0eb6537f3dd143f1f3	Turner's syndrome (TS) is characterized by typical @DISEASE$ features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and kidney malformations.	false
+8432c582e2401cd772dab3690072f6996d73a9f8	Turner's @DISEASE$ (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and kidney malformations.	false
+8eda62534d895656f6ba864057ea5eaa5bc049ca	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, microcephaly, short statue, minor @DISEASE$ dysmorphic features, congenital heart diseases, uro/@PHENOTYPICFEATURE$, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	has_symptom
+8306f6050dd4857088b12048a6c9887d7d395816	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, microcephaly, short statue, minor facial dysmorphic features, @DISEASE$, uro/renal malformations, abnormal muscle tone, @PHENOTYPICFEATURE$ of the lower limbs, and delayed ability to stand and walk.	false
+758d77f8dc08b82914117bfaa2ec69668af94791	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, @PHENOTYPICFEATURE$, short statue, minor facial dysmorphic features, @DISEASE$, uro/renal malformations, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	false
+c5fa1911b0dce92069dcdc084c51ec9491aca31e	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, @PHENOTYPICFEATURE$, short statue, minor @DISEASE$ dysmorphic features, congenital heart diseases, uro/renal malformations, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	false
+6a775e82424b1f2ba335bfc0bffadf4fb8958881	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, @PHENOTYPICFEATURE$, microcephaly, short statue, minor facial dysmorphic features, congenital heart diseases, uro/@DISEASE$, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	false
+093aca8c480b09a306855a818e6da4c36f681507	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, @PHENOTYPICFEATURE$, short statue, minor facial dysmorphic features, congenital heart diseases, uro/@DISEASE$, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	false
+22e2895a07944ab0a8bd164cfdffca5e1ba5f47e	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, microcephaly, short statue, minor @DISEASE$ dysmorphic features, congenital heart diseases, uro/renal malformations, abnormal muscle tone, @PHENOTYPICFEATURE$ of the lower limbs, and delayed ability to stand and walk.	false
+f26f6f51bd8791aada6fc11ae2f6bed60192b583	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, @PHENOTYPICFEATURE$, microcephaly, short statue, minor @DISEASE$ dysmorphic features, congenital heart diseases, uro/renal malformations, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	false
+e884b00de177667ca0451ae49b974034c4bebb74	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, @PHENOTYPICFEATURE$, microcephaly, short statue, minor facial dysmorphic features, @DISEASE$, uro/renal malformations, abnormal muscle tone, spasticity of the lower limbs, and delayed ability to stand and walk.	false
+d5357e1cc20062b602bda250dbf26cb4548c84be	The syndrome is characterized by mild-to-moderate mental retardation, poor language acquisition, seizures, microcephaly, short statue, minor facial dysmorphic features, congenital heart diseases, uro/@DISEASE$, abnormal muscle tone, @PHENOTYPICFEATURE$ of the lower limbs, and delayed ability to stand and walk.	false
+12d183973f0e301459fa378f479f13de7e66a715	The value of early diagnosis of asymptomatic @PHENOTYPICFEATURE$ is uncertain, except when other abnormalities might point to them and they can affect the clinical management strategy (severe ear deformity with @DISEASE$ malformation, gynecological abnormalities).	has_symptom
+f9f823b0fa4055d7cb54832e0ff6fa6020649820	Malformations were present in all cases (abnormal pigmentation: 86%; skeletal maturation retardation: 83%; @DISEASE$ dysmorphy: 76%; statural hypotrophy: 65%; bone abnormalities: 53%; @PHENOTYPICFEATURE$: 44%).	has_symptom
+0810e4bb642f8342eab3697013066987e37d5e14	Also, evidence from other species suggests that increased nitrergic neuronal activity can account for many of the clinical signs of @DISEASE$, namely @PHENOTYPICFEATURE$, generalized ileus, gastric dilatation, sweating, peripheral vasodilatation, tachycardia, salivary hypersecretion, muscle wastage and cachexia.	has_symptom
+180fbebf72c7c38746df0a06c57b96dcabc0d9b7	@DISEASE$ (EG) is an uncommon disorder, characterised by cramping abdominal pain, diarrhoea and @PHENOTYPICFEATURE$ and histologically by eosinophilic infiltration of bowel wall.	has_symptom
+a56be98ea3d2820bba9479d375085b5c01043696	Eosinophilic gastroenteritis (EG) is an uncommon disorder, characterised by cramping @PHENOTYPICFEATURE$, diarrhoea and @DISEASE$ and histologically by eosinophilic infiltration of bowel wall.	false
+6ab3b72609c1c839339cb3ce51befb9bbff8211e	Eosinophilic gastroenteritis (EG) is an uncommon disorder, characterised by cramping @PHENOTYPICFEATURE$, @DISEASE$ and vomiting and histologically by eosinophilic infiltration of bowel wall.	false
+f5f4a24dadda30e02fae24bc808bd48761507d06	@DISEASE$ (EG) is an uncommon disorder, characterised by cramping @PHENOTYPICFEATURE$, diarrhoea and vomiting and histologically by eosinophilic infiltration of bowel wall.	false
+19e24a316725702b7f08711ffada04c07cc00c27	@DISEASE$ is a rare disease of the gastrointestinal tract characterized by crampy abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhea, gastrointestinal bleeding, and weight loss associated with peripheral eosinophilia leading to eosinophilic infiltrates in stomach and intestine, usually in a patient with a prior history of atopy.	has_symptom
+0fec1b669e19cb22681f3776760602091be38986	@DISEASE$ (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhoea, weight loss, and abdominal distension.	has_symptom
+6c2445bbbbee0292d053fdcb426a4e82648cd9c9	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include @PHENOTYPICFEATURE$, nausea, vomiting, @DISEASE$, weight loss, and abdominal distension.	false
+75327530534ba497a0bdeed21f71b301c785df86	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, vomiting, @DISEASE$, @PHENOTYPICFEATURE$, and abdominal distension.	false
+20a37a4a0338376b9d9e86eba69fed73468cdeb7	@DISEASE$ (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include @PHENOTYPICFEATURE$, nausea, vomiting, diarrhoea, weight loss, and abdominal distension.	false
+b355e4132e158741611b57383ff08b3f4151709c	@DISEASE$ (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, vomiting, diarrhoea, @PHENOTYPICFEATURE$, and abdominal distension.	false
+3034a20c22384cffad21cc1bb9f0d905fe00b33a	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include @PHENOTYPICFEATURE$, nausea, @DISEASE$, diarrhoea, weight loss, and abdominal distension.	false
+f4f5bc05b1df1ef0c57b88b111725bc2c26ba55c	Eosinophilic gastroenteritis (EG) typically presents with a combination of chronic nonspecific gastrointestinal symptoms which include abdominal pain, nausea, @DISEASE$, diarrhoea, @PHENOTYPICFEATURE$, and abdominal distension.	false
+ed2dd8baf0075f5a0cc7b25bdc0b85819e0e171b	The following disorders are considered a consequence of food allergy: gastrointestinal reactions (oral allergy syndrome, @PHENOTYPICFEATURE$, diarrhea, protein-induced enterocolitic syndrome, @DISEASE$); respiratory reactions (rhinitis, asthma, laryngeal edema); cutaneous reactions (urticaria-angioedema, atopic dermatitis); anaphylaxis.	has_symptom
+af6c2d2f2700fe417e05788e900dbe1a6d6eae21	@DISEASE$ causes a wide array of gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, @PHENOTYPICFEATURE$, bloating or ascites, and its diagnosis requires a high degree of clinical likelihood given the nonspecific presentation and physical examination findings.	has_symptom
+2c2b3350cc494fce71119fd1dff8006e9b463970	@DISEASE$ causes a wide array of gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, @PHENOTYPICFEATURE$, bloating, or ascites, and its diagnosis requires a high degree of clinical likelihood, given the nonspecific clinical presentation and physical examination findings.	has_symptom
+69c21868cbe58dd6dfc503fed9e967957db0f9f2	@DISEASE$ is an uncommon disorder, characterised by eosinophilic infiltration of gut wall, with variable clinical features, depending affected layer of the wall and digestive area, but usually consisting in abdominal pain, diarrhoea, and @PHENOTYPICFEATURE$.	has_symptom
+00c1c86fc1ba3ffacc2a1261f0817b2857a5cf8d	@DISEASE$ is an uncommon disorder, characterised by eosinophilic infiltration of gut wall, with variable clinical features, depending affected layer of the wall and digestive area, but usually consisting in @PHENOTYPICFEATURE$, diarrhoea, and vomiting.	false
+b9ba5fa068c0157eb526f60099702e040cd39647	Eosinophilic gastroenteritis is an uncommon disorder, characterised by eosinophilic infiltration of gut wall, with variable clinical features, depending affected layer of the wall and digestive area, but usually consisting in @PHENOTYPICFEATURE$, @DISEASE$, and vomiting.	false
+74f8fa32bd9d3f9024b0c301cc17dab0ac632059	Eosinophilic gastroenteritis is an uncommon disorder, characterised by eosinophilic infiltration of gut wall, with variable clinical features, depending affected layer of the wall and digestive area, but usually consisting in @PHENOTYPICFEATURE$, diarrhoea, and @DISEASE$.	false
+b3844c84a81ea5170696277fa5c55d3ec0efc45f	In this article, we describe our encounter with a 59-year-old female presenting with severe abdominal pain, nausea, @PHENOTYPICFEATURE$, and weight loss with an extensive evaluation including an upper endoscopy with biopsies resulting in a diagnosis of @DISEASE$.	has_symptom
+6a534e2215694f8d85115e62ff9ff7a8c5ced8cf	In this article, we describe our encounter with a 59-year-old female presenting with severe @PHENOTYPICFEATURE$, nausea, vomiting, and weight loss with an extensive evaluation including an upper endoscopy with biopsies resulting in a diagnosis of @DISEASE$.	false
+169df7fefd752a39fbc17b2c70424fefd3b66f5a	In this article, we describe our encounter with a 59-year-old female presenting with severe @PHENOTYPICFEATURE$, nausea, @DISEASE$, and weight loss with an extensive evaluation including an upper endoscopy with biopsies resulting in a diagnosis of eosinophilic gastroenteritis.	false
+115cf3aa0c2e228ce405a7f7a8a03e7129735076	@DISEASE$ (EG) is a rare condition of unknown etiology characterized by @PHENOTYPICFEATURE$, diarrhea, protein-losing enteropathy, and eosinophilic infiltration of the gastrointestinal mucosa.	has_symptom
+238724549a63fac1b9d2ca5e0bde7b1896d7e1c2	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, @PHENOTYPICFEATURE$ and cerebral thromboembolism.	has_symptom
+01554d1bc37f89800123e0f9a9936b718424603a	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral @PHENOTYPICFEATURE$.	false
+8f381b989936d1f910b444f271a9d6ecc1726bed	Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with @PHENOTYPICFEATURE$, @DISEASE$ and cerebral thromboembolism.	false
+0b3bf489e5c177766ad40e3936084e0b7f15869c	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with @PHENOTYPICFEATURE$, encephalopathy and cerebral thromboembolism.	false
+ef8a5337bfafc5fa0966da723e65d25890449099	Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, @DISEASE$ and cerebral @PHENOTYPICFEATURE$.	false
+cf9fdb586e8aebd39df8b905f6f4ed4f79b568f3	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann @DISEASE$ and mental retardation, but without chondrodysplasia punctata or @PHENOTYPICFEATURE$, was investigated with molecular probes from the distal Xp22.3 region.	has_symptom
+857a267a08873910e41756ab8953e74333eff2c8	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann @DISEASE$ and @PHENOTYPICFEATURE$, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region.	false
+d2c4919bdcd91626f36568ea36c782d26d0ce466	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and @PHENOTYPICFEATURE$, but without @DISEASE$ or short stature, was investigated with molecular probes from the distal Xp22.3 region.	false
+b32cde34b90f4dc204bde99f90989361c0a9294f	A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and @PHENOTYPICFEATURE$, but without chondrodysplasia punctata or @DISEASE$, was investigated with molecular probes from the distal Xp22.3 region.	false
+b9b1f2ad860ba948bb488a438f4ce94d1d1d0b81	@DISEASE$ is a clinicopathological syndrome characterised by indolent course of flu-like illness followed by cough, dyspnoea and @PHENOTYPICFEATURE$, and responds well to steroid treatment.	has_symptom
+9462fbdd7fac39a059f420c45130cf0ef892cf55	A 73-year-old man was hospitalized because of @PHENOTYPICFEATURE$, headache, and appetite loss after 10?months of steroid and immunosuppressive therapy for @DISEASE$.	has_symptom
+b52becf31d9eca309fbb8c7e2d7e9ac8cdb9c64c	@DISEASE$ (BOOP) is a recently described entity characterized by cough, @PHENOTYPICFEATURE$ and dyspnea.	has_symptom
+54119487a2dad2ab39adebc11c5cdf58111b8fe7	@DISEASE$ (BOOP) is characterized clinically by progressive cough, @PHENOTYPICFEATURE$, and dyspnea and pathologically by plugging of the bronchiolar and alveolar lumen with buds of loose connective tissue containing fibroblasts and inflammatory cells.	has_symptom
+1272f9e136fc3007b25ce575b822bd4ddaddaf9e	@DISEASE$ syndrome developed in 4 (2.5%) patients, who had @PHENOTYPICFEATURE$ and nonproductive cough, with patchy infiltrative shadows on chest roentgenograms which emerged between 5 and 6 months after radiotherapy.	has_symptom
+843a03a7497462b780a1360d7f116eaa2797560f	@DISEASE$ (BOOP) presents with @PHENOTYPICFEATURE$, dyspnoea, pleuritic chest pain and hypoxia.	has_symptom
+effb3ba19079ee870ea167b54bf5ab866f051e18	A 77-year-old man with metastatic melanoma developed @PHENOTYPICFEATURE$, cough and dyspnoea soon after the start of ipilimumab treatment leading to the diagnosis of a @DISEASE$ (BOOP).	has_symptom
+7465be02067d307df08489d96dbee6d8a64b33f5	We report a patient who presented 6 months after orthotopic liver transplantation (OLT) with @PHENOTYPICFEATURE$, dyspnea, and pulmonary infiltrates with biopsy-confirmed Pneumocystis jiroveci infection associated with a process of @DISEASE$ (BOOP).	has_symptom
+847ecdbf9c08f35c47082770a12bf039284099a7	@DISEASE$ (SCA1) is a late onset neurodegenerative disease characterized by cerebellar ataxia with variable degrees of ophthalmoplegia, pyramidal and extrapyramidal signs, and @PHENOTYPICFEATURE$.	has_symptom
+27c524120ba4fe73a445d12c1d71c9d45ff8faa4	Spinocerebellar ataxia type 1 (SCA1) is a late onset @DISEASE$ characterized by @PHENOTYPICFEATURE$ with variable degrees of ophthalmoplegia, pyramidal and extrapyramidal signs, and peripheral neuropathy.	false
+e329852aeea7eb0f89d6399eaa5814dbfd5b5e64	@DISEASE$ (SCA1) is a late onset neurodegenerative disease characterized by @PHENOTYPICFEATURE$ with variable degrees of ophthalmoplegia, pyramidal and extrapyramidal signs, and peripheral neuropathy.	false
+f17686e1a98d8382520abde3d0d574cd64174e1e	Spinocerebellar ataxia type 1 (SCA1) is a late onset neurodegenerative disease characterized by @PHENOTYPICFEATURE$ with variable degrees of ophthalmoplegia, pyramidal and extrapyramidal signs, and @DISEASE$.	false
+ffa697649f750a9087759a5b2435545969c845bb	Inherited myopathies are major causes of muscle atrophy and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	has_symptom
+36dc596aa41c080084f77355b8f9f5da3000fa5e	Inherited @DISEASE$ are major causes of @PHENOTYPICFEATURE$ and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures.	false
+32d74913c7762b911b69755d320167deaa6687fd	Inherited myopathies are major causes of @PHENOTYPICFEATURE$ and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal @DISEASE$.	false
+f0936c8eb82878f28519435bc8e7ec359b8a6263	Inherited myopathies are major causes of @PHENOTYPICFEATURE$ and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal contractures.	false
+fe099b96a3782cf976ca7fa409b90a0f3685f4c3	@DISEASE$ is a rare myopathy characterized by mild axial and proximal muscle weakness, limitation of neck and trunk flexion, scoliosis and mild @PHENOTYPICFEATURE$.	has_symptom
+c76638ee2e0557c343f134dc0622102b162be96c	@DISEASE$ is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal @PHENOTYPICFEATURE$ as a prominent feature.	has_symptom
+8a4b15e713c4028bc19870efe3105c6df6250de2	Additionally, FHL1 mutations have been discovered in @DISEASE$ and in a single family with @PHENOTYPICFEATURE$, rigid spine, and cardiomyopathy.	has_symptom
+27418152a9ccfef87822658b577323b7946bf8e5	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle @PHENOTYPICFEATURE$, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	has_symptom
+776e380b11e909ac2b7b61cdde8601e583512aea	Rigid spine syndrome is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle @DISEASE$, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	false
+a0b278371094ac40939831c650867570437c9782	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle @DISEASE$, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often respiratory failure.	false
+f9f5d6f91534121c6774a161cebd4b993fad557c	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often @DISEASE$.	false
+6c774e5daf840d978063a92e4ec5c4a74b9cf87c	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often @DISEASE$.	false
+c890e08c3dcc10122b222e6e3513d354bd915bd5	Rigid spine syndrome is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often @DISEASE$.	false
+9eede6796170d3a50f976b4c1c4029a989691247	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often respiratory failure.	false
+da7db9c84eef48e2ca35c47e2a876df9084d30d9	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle @DISEASE$, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often respiratory failure.	false
+b8f5e4438844f721e8f23906a4400d2cb1deeeed	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often respiratory failure.	false
+461aa4e6f3f246704d232d368b10f66557111860	@DISEASE$ is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	false
+6fb94bd041e87b380c728b2bdd4ae32634200968	A case is described with the characteristic clinical features of @DISEASE$: childhood onset in a male, very slowly progressive weakness and muscle atrophy, limitation of neck and trunk flexion, @PHENOTYPICFEATURE$, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	has_symptom
+691ed92cb548885c31f1cfb4dee8f0bd3ca7f6a9	A case is described with the characteristic clinical features of @DISEASE$: childhood onset in a male, very slowly progressive weakness and @PHENOTYPICFEATURE$, limitation of neck and trunk flexion, joint contractures, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	false
+d56b29cd6f2673c0721670600561e307c312aa98	A case is described with the characteristic clinical features of rigid spine syndrome: childhood onset in a male, very slowly progressive weakness and @PHENOTYPICFEATURE$, limitation of neck and trunk flexion, @DISEASE$, normal intelligence, no clear family history, increased serum CPK levels and myopathic patterns in EMG and muscle biopsy specimens.	false
+17c23bca49b7bc2bf3af3785a1459190e23c854c	@DISEASE$ (RSS) is clinically characterized by progressive limitation of flexion of the spine and @PHENOTYPICFEATURE$ of other joints.	has_symptom
+888c405aaf86e26fdcb22bac7ee665f91d013d1d	The @DISEASE$ is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, flexion contractures of the neck and spine, scoliosis, and @PHENOTYPICFEATURE$.	has_symptom
+ab6c81355e2e380dd0f4eabe152fb936a7609eaa	The @DISEASE$ is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, @PHENOTYPICFEATURE$ of the neck and spine, scoliosis, and joint contractures.	has_symptom
+e4b2187523c8da521de9781a3b71366511e1194a	Finally, @PHENOTYPICFEATURE$ and their relationship with myosclerosis, notably @DISEASE$, are discussed.	has_symptom
+c3350f8377c31a8b128f31182af36031aefc482e	We investigated a large German family (n = 37) with male members who had @PHENOTYPICFEATURE$, @DISEASE$, and hypertrophic cardiomyopathy.	has_symptom
+09c3eb6a46f902855409d7578991d4a278741802	@DISEASE$ may lead to @PHENOTYPICFEATURE$ and causes visual impairment in 58% of cases and, more rarely, ocular motor disorder.	has_symptom
+21aa7ee59a6dd94b6b2e49dc2ed278f692245eb5	@DISEASE$ may lead to blindness and causes @PHENOTYPICFEATURE$ in 58% of cases and, more rarely, ocular motor disorder.	false
+4dc007d33118b4cacf63377fd4d56adc054ca509	Non-functioning pituitary adenoma may lead to @DISEASE$ and causes @PHENOTYPICFEATURE$ in 58% of cases and, more rarely, ocular motor disorder.	false
+38265e5e075143870e04cf3dc0ebbd8c0025f4db	His renal function rapidly deteriorated in the middle of August (BUN 45 mg/dl, Cr 4.8 mg/dl) and @DISEASE$ (IgAN) with marked intestinal @PHENOTYPICFEATURE$ was disclosed by renal biopsy.	has_symptom
+505fe1f8e3af8ade0922be34205c3221d466669b	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, @DISEASE$, systemic lupus erythematosus @PHENOTYPICFEATURE$, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	has_symptom
+8631cb6aa5769c18cd3f8080d845222f89bac358	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM @DISEASE$, focal and segmental glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+bf66d29ce38e9455c507f3690b6f197fb6313970	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune @DISEASE$, thin basement membrane disease, and tubulointerstitial nephritis.	false
+58ea46e8119d3daae69ce1eb37a3564be1edc233	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of @DISEASE$ including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+5b13af29e9225af1f224f2152f535b2753fbfdaa	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and @DISEASE$.	false
+15516bb21ef20fb7b3fbca175cba62747b12bc3b	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, @DISEASE$, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+05b9b11e726f04c3e9fcd741736ecd320ab7ad3f	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, @DISEASE$, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+185005ebef7fd12e0bef0fc69c7cf8bf7ccce285	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental @DISEASE$, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+0d3d94083f72be79bc4106c0d48a0ea61184e077	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and @DISEASE$ glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+1449e2ec028a4e8104222dceb3b588ef47b98a18	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, IgA nephropathy, @PHENOTYPICFEATURE$ @DISEASE$, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+210895fff4ef7abb8b93fde2af65b94ff08509ba	A patient with @DISEASE$ associated with Hirschsprung megacolon and Marcus Gunn @PHENOTYPICFEATURE$ is presented.	has_symptom
+e502f1cc9603396eea580c23711b523b55af3b88	The role of suppressor cells in the pathogenesis of common variable @PHENOTYPICFEATURE$ and the immunodeficiency associated with @DISEASE$.	has_symptom
+5c2e8abb831401bf40f494a63c3a864a4eebedf8	X-linked @DISEASE$ (ATR-X, OMIM 301040) is a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR).	has_symptom
+8b41134a9f9477e60a2ca249816d6c325da70a8c	X-linked @DISEASE$ (ATR-X) is one of the many known X-linked @PHENOTYPICFEATURE$ syndromes.	has_symptom
+7ae3495bdbd015a916521373ab974ae9445a110b	Non-skewed X-inactivation may cause @PHENOTYPICFEATURE$ in a female carrier of X-linked @DISEASE$ (ATR-X): X-inactivation study of nine female carriers of ATR-X.	has_symptom
+b0229c480d0243b203eb32adc6330a128b29a465	X-linked @DISEASE$ (ATR-X) is a syndromic form of X-linked @PHENOTYPICFEATURE$.	has_symptom
+03197a825457b2109b4f60d835d11099a63cbd8f	Notably, these double mutants exhibited @DISEASE$ development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and ataxia and @PHENOTYPICFEATURE$.	has_symptom
+a868c09e7e9629fb771e07982411c7361bd55060	Notably, these double mutants exhibited @DISEASE$ development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and @PHENOTYPICFEATURE$ and seizures.	false
+29dab7d2d62e798584ca7a0087c1ff3cf6c6a56a	Notably, these double mutants exhibited AT/RT development, associated with an earlier failure in granule neuron migration in the cerebellum, reduced neuronal projections in the hippocampus, degeneration of the corpus callosum, and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c2b9a568066a4104d928c263c8e220345b970276	Defective ATP11C resulted in a lower rate of phosphatidylserine translocation in pro-B cells and much lower pre-B cell and B cell numbers despite expression of pre-rearranged immunoglobulin transgenes or enforced expression of the prosurvival protein Bcl-2 to prevent apoptosis and abolished pre-B cell population expansion in response to a transgene encoding interleukin 7. The only other abnormalities we noted were anemia, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7b0146a15f4d5edf75d1116771000d9005a5ad5a	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and @DISEASE$ (AOA2).	has_symptom
+ce16b2418ada928d275eb9baf2bedede07d03032	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (@DISEASE$); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+2af7bbc62a173ef2077518ae16571e318cdcb878	These include ataxia telangiectasia (A-T); @DISEASE$ (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+b4baffd5a2b69617653b4daaa3f1ad09eb50361b	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and @DISEASE$ (AOA2).	false
+fe1af0e135f3b61fe9bbc4ca66610b3eaad2e88e	These include @DISEASE$ (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+a99b02be8f03139e75d51a64f2214899049fd9f9	These include ataxia telangiectasia (A-T); ataxia telangiectasia like disorder (ATLD); @PHENOTYPICFEATURE$ @DISEASE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+552117874b22f34de89a7ab1e7c4d8dbbc7740bc	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of ataxia with @PHENOTYPICFEATURE$ and neuropathy with onset of ataxia between the first and second decade of life.	has_symptom
+ea2441de0fbc18fd37fb1fda05617e71ffa1cde1	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of @PHENOTYPICFEATURE$ with @DISEASE$ and neuropathy with onset of ataxia between the first and second decade of life.	false
+4c99aff047b135b204dd43293f0716a49c59e6e3	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of ataxia with oculomotor apraxia and neuropathy with onset of @PHENOTYPICFEATURE$ between the first and second decade of life.	false
+bef2cb60249a0cfd9d5f4fc13224c852614e8e2d	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of ataxia with oculomotor apraxia and @DISEASE$ with onset of @PHENOTYPICFEATURE$ between the first and second decade of life.	false
+28d67eba638200fccc69375ee084a0944cfffc1a	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of @PHENOTYPICFEATURE$ with oculomotor apraxia and @DISEASE$ with onset of ataxia between the first and second decade of life.	false
+3faa7341726d1ab7992e0e3011cc7670e0ddd6db	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of @PHENOTYPICFEATURE$ with oculomotor apraxia and neuropathy with onset of ataxia between the first and second decade of life.	false
+2a9775fe906c4c2373608b816010b201422e7c17	Homozygous and compound heterozygous mutations in SETX are associated with AOA2 disease, a recessive form of ataxia with @DISEASE$ and neuropathy with onset of @PHENOTYPICFEATURE$ between the first and second decade of life.	false
+d5419742932f1ec0da1754a502149d98e37f74bd	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and @DISEASE$, are accompanied by @PHENOTYPICFEATURE$ (OMA), which is an impairment of saccadic eye movement initiation.	has_symptom
+480d95ef4d070600a33b1ce40c466d031ec2ceca	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and @DISEASE$, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	has_symptom
+248e2dd66338ed61b828dc20a3f77ca8cb0d4812	At least four disorders, @DISEASE$ (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+f1494d21533c1009b6ebe77dd45e079747093e16	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+eda70c8d01fa7783864af9e22ce79ade52ac99b2	At least four disorders, ataxia telangiectasia (AT), an @DISEASE$, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+06c93d45497102f5238b97e5ae7eb273adae425d	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and @DISEASE$, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+6604a164bd3d71466a049d3debc73403b1e93138	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ @DISEASE$ (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation.	false
+a579d96beedacb548f2a4d0771256ebafeef49fa	At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by @DISEASE$ (OMA), which is an impairment of saccadic eye movement initiation.	false
+dba3b92d37fda9b1170d1b32a853cbc1c8731dc5	Affected patients typically experience some combination of fatigue, myalgia, joint pain, @DISEASE$ (dry eyes and mouth), synovitis, rash, alopecia, @PHENOTYPICFEATURE$ or lymphadenopathy, and autoantibody formation.	has_symptom
+82dfa3318188c2ad53363799b0aebfd1465c3004	Affected patients typically experience some combination of fatigue, myalgia, @PHENOTYPICFEATURE$, sicca syndrome (dry eyes and mouth), @DISEASE$, rash, alopecia, muscular weakness or lymphadenopathy, and autoantibody formation.	false
+9dcb2bb11b53f7a37a61966f1317a2c6ac19633c	Affected patients typically experience some combination of fatigue, myalgia, @PHENOTYPICFEATURE$, @DISEASE$ (dry eyes and mouth), synovitis, rash, alopecia, muscular weakness or lymphadenopathy, and autoantibody formation.	false
+cb789761875ba18c0ffdcf953215b8efb452a09c	Affected patients typically experience some combination of fatigue, myalgia, @PHENOTYPICFEATURE$, sicca syndrome (dry eyes and mouth), synovitis, rash, alopecia, @DISEASE$ or lymphadenopathy, and autoantibody formation.	false
+0b5654f4168ed26f03e5b0585b5d4326c0b4b0ae	Appearing and disappearing CT @DISEASE$ abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+f87bc3945dae48e0e8e0f14c83616aece67655da	Except for one case that later developed a @PHENOTYPICFEATURE$, the majority (13 out of 14) of cases with minor brain @DISEASE$ anomalies were only transient, without significant clinical impact.	has_symptom
+64f20a93cc975dd3f164cfbdc300e9ce97dcb207	In our patient the typical features of the syndrome are accompanied by several neurological signs (mental retardtion, strabism, hypothonia, motor impairment, @PHENOTYPICFEATURE$, CT @DISEASE$ abnormalities) and ophtalmological changes as optic disk pallor.	has_symptom
+8bc94afd379c4a3da6dc41a3b46bd1cc2a552814	Pfeiffer syndrome is an autosomal dominantly inherited disorder consisting of @DISEASE$, a flattened midface with a beaked nose and @PHENOTYPICFEATURE$, and broad and medially deviated thumbs and great toes.	has_symptom
+7fb63dc0ca72e25461b0f0c9e473bb39ce31c155	Bone fragility, @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.	has_symptom
+6e6f6426e3654f8c0ba7a43afa0ee3207ef58120	Bone fragility, craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.	false
+afbd75322a193f21f8722a6af29ab4e7a964cece	Bone fragility, @DISEASE$, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.	false
+ac6fb0629aa68e69ed6ee5dab012b9304ee6e17d	The two patients were affected with shallow orbits and @PHENOTYPICFEATURE$, accompanied by midface hypoplasia, @DISEASE$, and clinically normal hands and feet.	has_symptom
+ddf32d4aab4af6bf3e3ca5563bda37b6bc3027a4	The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include @DISEASE$, mid-face hypoplasia and @PHENOTYPICFEATURE$.	has_symptom
+6d5305fcc9f782d919755a659c20f3f3093b6a55	The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include craniosynostosis, mid-@PHENOTYPICFEATURE$ and @DISEASE$.	false
+252f01272e8f304eac5b2a537b196e54f278b648	The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include @DISEASE$, mid-@PHENOTYPICFEATURE$ and ocular proptosis.	false
+f2537051c25fee19092151b15653122c9708e458	Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by @DISEASE$, midface hypoplasia, @PHENOTYPICFEATURE$ and digital malformations.	has_symptom
+62bdf7c52c34f1309c51dd1082e736a2091f88db	Manifestations include @DISEASE$, @PHENOTYPICFEATURE$, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia.	has_symptom
+6ec75426e774ab95254b5d05954d6cc2b09214bd	Manifestations include @DISEASE$, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe @PHENOTYPICFEATURE$.	false
+f9d1c77c5bd7e6e480e3097bcb1b7866cf16313a	Manifestations include craniosynostosis, @DISEASE$, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe @PHENOTYPICFEATURE$.	false
+fae3dbe9574fd9112f5c831e0a79ada28e3ac234	These patients were affected with shallow orbits and @PHENOTYPICFEATURE$, accompanied by midface hypoplasia, @DISEASE$, strabismus or papilloedema, with clinically normal hands and feet.	has_symptom
+79be664283401ed5edc686fa9e462e4be4cefa71	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	has_symptom
+a9f250cc2c41e9447a407badf67909d43cca01c1	@DISEASE$ is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+431fcff0c3775d1bbb802ac6bcc7395c89243442	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, @DISEASE$, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+bb3500a3b7ba2bf23dcf8e8ce251bcc2e5bf60e6	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and distinctive facial features.	false
+c37e11211a3f156aa259d95ab175311340458c97	The three patients were affected with shallow orbits and @PHENOTYPICFEATURE$, accompanied by mid-face hypoplasia and @DISEASE$, but had clinically normal hands and feet.	has_symptom
+69f8a2b2158e6200d6e1a29710317e102d81520f	The three patients were affected with shallow orbits and ocular proptosis, accompanied by mid-@PHENOTYPICFEATURE$ and @DISEASE$, but had clinically normal hands and feet.	false
+539fc893c66c6c6ae63f7a6df9fa2a7aa31e40f1	The three patients were affected with shallow orbits and @DISEASE$, accompanied by mid-@PHENOTYPICFEATURE$ and craniosynostosis, but had clinically normal hands and feet.	false
+cb0894d414706a15ae659f9ac76c01e7b22d3f11	At birth, individuals with this disorder have @DISEASE$, @PHENOTYPICFEATURE$, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis nigricans during childhood.	has_symptom
+359968694fd5854a7e9403ba65d446c492f71c73	At birth, individuals with this disorder have @DISEASE$, ocular proptosis, midface hypoplasia, choanal atresia, @PHENOTYPICFEATURE$, and they experience the onset of acanthosis nigricans during childhood.	false
+4dbc3297b8e3eae9f943b1f0bac7922bd87bcea1	At birth, individuals with this disorder have craniosynostosis, @DISEASE$, midface hypoplasia, choanal atresia, @PHENOTYPICFEATURE$, and they experience the onset of acanthosis nigricans during childhood.	false
+9728963870c123f0096e0a2abaf0b465a119d2ae	@DISEASE$ (LCA) is an inherited retinal dystrophy that causes childhood @PHENOTYPICFEATURE$.	has_symptom
+199d2eb9b24e843185bba327616565c65d699157	@DISEASE$ (LCA) causes severe visual impairment and @PHENOTYPICFEATURE$ very early in life.	has_symptom
+3a8068c62c3f99e98426993a672705c9d7349a14	@DISEASE$ (LCA) and early-onset retinal dystrophy (EORD), are primary causes of inherited childhood @PHENOTYPICFEATURE$.	has_symptom
+bdb5ee8685a4f7380c0de8524cb0036b71aafde5	All affected patients showed typical eye symptoms associated with @DISEASE$ including narrow arterioles, @PHENOTYPICFEATURE$, pigmentary changes and nystagmus.	has_symptom
+151b58550fc8385df02a3c3f48399bb98dfdc68e	@DISEASE$ is a severe hereditary retinal dystrophy responsible for neonatal @PHENOTYPICFEATURE$.	has_symptom
+5351a0afc47c6fa311b820de824ee6aed829030e	Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+18af2edb12e71694c755c582696aaf1b3e72a2b4	@DISEASE$ (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset @PHENOTYPICFEATURE$.	has_symptom
+54b5d958273bae10767ea6feb94f7cc8044d1b62	@DISEASE$ (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood @PHENOTYPICFEATURE$.	has_symptom
+3a8519e483cf002f10fcba956fc3970b13cfb484	@DISEASE$ (LCA) is one of the main causes of childhood @PHENOTYPICFEATURE$.	has_symptom
+4de3f93d86f33ca31d7ba692f0e255acc4c624e8	@DISEASE$ (LCA) is a group of severe inherited retinal dystrophies that lead to early childhood @PHENOTYPICFEATURE$.	has_symptom
+f2cd69c2cb2f48d3ce0116b2276c669aee2e4d34	Current results point to the importance of the reduced airway dimensions and that dentists and/or orthodontists should be aware of the cranial or @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+61426a65d80ddb65a6ab1cbb75d26de51dfcaf8e	Recent publications have described @DISEASE$ patients with @PHENOTYPICFEATURE$ of etiologies other than NF2 who have achieved open-set speech recognition.	has_symptom
+2e6a642a6b81145454740536750dd2533869bc15	Ten patients with CHARGE syndrome and 3 patients with @DISEASE$ treated in our center due to @PHENOTYPICFEATURE$.	has_symptom
+6b6e4de0665790457bc54f8dba0c1f998101a7e0	These techniques may further improve auditory perceptual performance in @DISEASE$ patients and provide hearing to a variety of types of central @PHENOTYPICFEATURE$.	has_symptom
+ae2366e13aaac8e8d50e6cfccf2a0bb98c3187cd	There is no correlation between the performance with @DISEASE$ and the tumour size or the duration of @PHENOTYPICFEATURE$.	has_symptom
+484ba4ffa4cdf98a2f41f1eb94bc26215c0d2b0e	There is no correlation between the performance with @DISEASE$ and the @PHENOTYPICFEATURE$ size or the duration of deafness.	false
+5cae5320db437d5ae92b63a9c00f06bbc6031b4e	There is no correlation between the performance with ABI and the @PHENOTYPICFEATURE$ size or the duration of @DISEASE$.	false
+ecf2582b4862be899dde8f27c7c43ab5396160d4	which is syntenic to the mouse @PHENOTYPICFEATURE$ disease locus Xcat and encompasses the recently refined @DISEASE$ (NHS) locus.	has_symptom
+ffd1af8557c69e652fdb7626ae62dad1c054d137	The @DISEASE$ (NHS) is an infrequent X-linked disorder typified by dense congenital central @PHENOTYPICFEATURE$, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies.	has_symptom
+fe1cfd4c4b4e0d4922f9d0b69cb3349038bd78be	The Nance-Horan syndrome (NHS) is an infrequent X-linked disorder typified by dense congenital central @DISEASE$, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous @PHENOTYPICFEATURE$.	false
+f5f6290f794464c9383636f81d11194d80bf30f3	The @DISEASE$ (NHS) is an infrequent X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous @PHENOTYPICFEATURE$.	false
+6a9c403b7b379efa6d486a21517c198ce91caf47	X-linked @PHENOTYPICFEATURE$ and @DISEASE$ are allelic disorders.	has_symptom
+01940348bb9fd2306f49ff731ebfffebd01e1d80	@DISEASE$ (NHS) or X-linked @PHENOTYPICFEATURE$-dental syndrome (MIM 302350) is a disease of unknown pathogenesis characterized by congenital cataracts and dental anomalies.	has_symptom
+4f4550c62279cf7d00591ec491a6505105758f97	Mapping the gene for X-linked @PHENOTYPICFEATURE$ and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the @DISEASE$.	has_symptom
+d45ada06bc1da53f6626cef48ad84fa032f57722	Mapping of the X-linked @PHENOTYPICFEATURE$ (Xcat) mutation, the gene implicated in the @DISEASE$, on the mouse X chromosome.	has_symptom
+d71ab2d614c8cc57028800a15f68c94940be19cf	Xcat mice display X-linked congenital cataracts and are a mouse model for the human X-linked @PHENOTYPICFEATURE$ disease @DISEASE$ (NHS).	has_symptom
+62fefb37562d957ae99a09eb68152d730eb82955	Prenatal detection of congenital bilateral @PHENOTYPICFEATURE$ leading to the diagnosis of @DISEASE$ in the extended family.	has_symptom
+28f1c9ec8014a1de95b61a36968a7d4283be6df8	This report describes two families with the @DISEASE$, an X-linked trait featuring lenticular @PHENOTYPICFEATURE$ and anomalies of tooth shape and number.	has_symptom
+bba130f0714302134cbfc0526e305f6616b86219	X-linked families with @PHENOTYPICFEATURE$ should be carefully examined for both ocular and nonocular features, to exclude @DISEASE$.	has_symptom
+ff2668dd5672089a3d1125b77a6530a945381cf7	A third patient with median cleft upper lip, @PHENOTYPICFEATURE$ and pugilistic facies (@DISEASE$): corroboration of a hitherto private syndrome.	has_symptom
+04dd75704590c253b8b697fdb49a61ff56e885c7	Hematologic abnormalities described in @DISEASE$ include anemia, mild leukopenia [3, 4], eosinophilia, elevated erythrocyte sedimentation rate, @PHENOTYPICFEATURE$, mixed cryoglobulinemia, and a variety of autoantibodies [5].	has_symptom
+1156250e873f9f86ab37a24775c1329a615cbd99	Five patients had nonspecific @PHENOTYPICFEATURE$, Candidiasis, Klebsiella, and @DISEASE$ separately.	has_symptom
+ea1d5f47a108dc874de0e4f04a0c15505fe9e046	@DISEASE$ (HHML) is a condition characterized by asymmetric nonprogressive @PHENOTYPICFEATURE$, multiple lipomas, and superficial vascular malformations.	has_symptom
+38aa85936f518f5ed53dbbb1cd258ca952e624da	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, @PHENOTYPICFEATURE$, autism, and psychiatric conditions.	has_symptom
+f9591f23157d0694d0953f3f5800987569fccee0	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including @PHENOTYPICFEATURE$, seizures, autism, and psychiatric conditions.	false
+d50bd16a652d24ccc34183e0f15430d4d699d00f	The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, and psychiatric conditions.	false
+0cc7b827a357d5a0d02c9784301654c095789ca0	The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including @PHENOTYPICFEATURE$, @DISEASE$, autism, and psychiatric conditions.	false
+c45baf46fdc5365a484f391195136cde15fb4dac	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, @PHENOTYPICFEATURE$, and psychiatric conditions.	false
+2ddb4cfef3804a8f8b99660e0358d60654dbe000	Occurrence of @DISEASE$ out of French Canada--@PHENOTYPICFEATURE$ with neuronopathy.	has_symptom
+1a374bcfded87c52b3504f7041d4126cc857edcd	KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with @PHENOTYPICFEATURE$ (@DISEASE$) that often manifests with epileptic seizures.	has_symptom
+5e24a5a12765801dba4ab8cd001d39131a5b1a5a	KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (@DISEASE$) that often manifests with @PHENOTYPICFEATURE$.	false
+92d56fd48665a1f471388d8e32556d903d1994a6	KCC3 mutations have been associated with hereditary motor and sensory @DISEASE$ with corpus callosum agenesis (Andermann syndrome) that often manifests with @PHENOTYPICFEATURE$.	false
+0793abcdcc64ebe47a3abd7c5765403f86b32dbf	KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with @DISEASE$ (Andermann syndrome) that often manifests with @PHENOTYPICFEATURE$.	false
+53194c643d9a4cdb14dcde79c4b33c22f3c0078c	@PHENOTYPICFEATURE$ and psychosis in @DISEASE$.	has_symptom
+8a3e2c7b0ef694afd72bba2cfe785272d3cb9ac3	The @DISEASE$: @PHENOTYPICFEATURE$ associated with mental retardation and progressive sensorimotor neuronopathy.	has_symptom
+9d1fe5864a7841ccaa0ebe8387962fe3a4e3f11b	The Andermann syndrome: @DISEASE$ associated with @PHENOTYPICFEATURE$ and progressive sensorimotor neuronopathy.	false
+709aa4d5fee7605fb402c3cf5af5382eb2739330	The @DISEASE$: agenesis of the corpus callosum associated with @PHENOTYPICFEATURE$ and progressive sensorimotor neuronopathy.	false
+d2ba319813e511b36d586e2e1f522513567a3bdc	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, anterior horn cell disease, a mixed sensory and motor neuropathy, and facial dysmorphism, and is inherited as an autosomal recessive trait.	has_symptom
+23e2c558a9d7478386600d13ad0e15dff5e46ea8	@DISEASE$ is characterized by agenesis of corpus callosum, anterior horn cell disease, a mixed sensory and motor neuropathy, and @PHENOTYPICFEATURE$, and is inherited as an autosomal recessive trait.	false
+5b431af0a3cb469f8d661b9bc8bb47f4de62f405	Andermann syndrome is characterized by @DISEASE$, anterior horn cell disease, a mixed sensory and motor neuropathy, and @PHENOTYPICFEATURE$, and is inherited as an autosomal recessive trait.	false
+062dda0344d2b2a74f9e45dd4ef2ec5e02aa35cd	Andermann syndrome is characterized by agenesis of corpus callosum, @DISEASE$, a mixed sensory and motor neuropathy, and @PHENOTYPICFEATURE$, and is inherited as an autosomal recessive trait.	false
+a580b8cd33e37fb6f165e1ac9e2f145f43ac0111	Andermann syndrome is characterized by agenesis of corpus callosum, anterior horn cell disease, a mixed sensory and motor @DISEASE$, and @PHENOTYPICFEATURE$, and is inherited as an autosomal recessive trait.	false
+ad5d061985af12348d4eed9bd9a6c8cf205e1b9e	Familial progressive sensorimotor neuropathy with @PHENOTYPICFEATURE$ (@DISEASE$): a clinical, neuroradiological and histopathological study.	has_symptom
+7f26991bff32aedd2d2fda6bc109748ca115dc92	@DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-sensory neuropathy, mental retardation and facial features.	has_symptom
+575560c705dd258a386fa057d7652fb407601d4e	@DISEASE$ is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, @PHENOTYPICFEATURE$ and facial features.	false
+4f4f2264f927ad43e0b024df1c4f6cca5dd4d08c	@DISEASE$ is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@PHENOTYPICFEATURE$, mental retardation and facial features.	false
+bf872e52367e5ab447a7237874e07602e255b36e	Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, @PHENOTYPICFEATURE$ and @DISEASE$ features.	false
+0fe77feb0360c41b54ad584e044714fdf3eed170	Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@PHENOTYPICFEATURE$, mental retardation and @DISEASE$ features.	false
+e48e7cf0e23fe4a6b220443c57712de3b0aff424	Andermann syndrome is a rare autosomal recessive disorder characterized by @DISEASE$ (ACC), progressive motor-@PHENOTYPICFEATURE$, mental retardation and facial features.	false
+9d9cf1980a831f0eb0aef4a7bb1b874f46621a8e	Andermann syndrome is a rare autosomal recessive disorder characterized by @DISEASE$ (ACC), progressive motor-sensory neuropathy, @PHENOTYPICFEATURE$ and facial features.	false
+b4afecbfd6440382bc236b4afed2f542292c663b	We studied 62 patients affected by the @DISEASE$, a polymalformative familial syndrome combining frequent congenital @PHENOTYPICFEATURE$, mental retardation, psychotic episodes, peripheral neuropathy, and some dysmorphic features.	has_symptom
+ed4e0cb21514349d324b37b69b4d257619fc153a	We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital corpus callosum agenesis, @PHENOTYPICFEATURE$, psychotic episodes, @DISEASE$, and some dysmorphic features.	false
+8036a968044641aae353e22b25418b8a2f2321ca	We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital @DISEASE$, @PHENOTYPICFEATURE$, psychotic episodes, peripheral neuropathy, and some dysmorphic features.	false
+3dfdf0beccb4a1df6f305451412f0732cd27ea6d	We studied 62 patients affected by the @DISEASE$, a polymalformative familial syndrome combining frequent congenital corpus callosum agenesis, @PHENOTYPICFEATURE$, psychotic episodes, peripheral neuropathy, and some dysmorphic features.	false
+df9700190aca6e612438eef95a08a9fd39e2c53f	Furthermore, recessively inherited mutations of SLC12A6 cause @DISEASE$, characterized by @PHENOTYPICFEATURE$, which is associated with peripheral neuropathy and psychoses.	has_symptom
+4ded10e9a8057bc301e4021e1aac09d5a07898f1	Furthermore, recessively inherited mutations of SLC12A6 cause @DISEASE$, characterized by agenesis of the corpus callosum, which is associated with @PHENOTYPICFEATURE$ and psychoses.	false
+1f813eadd24d2d7041fa5bc35f88d497e44c9f18	Furthermore, recessively inherited mutations of SLC12A6 cause Andermann syndrome, characterized by @DISEASE$, which is associated with @PHENOTYPICFEATURE$ and psychoses.	false
+2ddb4cfef3804a8f8b99660e0358d60654dbe000	Occurrence of @DISEASE$ out of French Canada--@PHENOTYPICFEATURE$ with neuronopathy.	has_symptom
+75434cae98492ba13452ac71be38faeb1837be28	Hypomorphic Rag mutations in humans, which maintain partial V(D)J activity, cause a peculiar SCID associated with @PHENOTYPICFEATURE$-like manifestations, @DISEASE$ (OS).	has_symptom
+c798b8a654c7e94cca7c1cb120462bd37235a7df	In addition identification of hypomorphic mutations in RAG1 and RAG2 has led to an expansion of the spectrum of disease to include @DISEASE$, early onset @PHENOTYPICFEATURE$, granuloma, chronic cytomegalovirus- or EBV-infection with expansion of gamma/delta T-cells, idiophatic CD4 lymphopenia and a phenotype resembling common variable immunodeficiency.	has_symptom
+bb264c2215e9af2a8daf0878873b4d360313a584	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, visual impairment and @PHENOTYPICFEATURE$ in the second or third decade of life.	has_symptom
+b4d83c3c10c08d9daeb4fb0a63d45738fe759ac0	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, visual impairment and ataxia in the second or third decade of life.	false
+ece7deba44af71d81a427fce06dc72df148b4910	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, visual impairment and @DISEASE$ in the second or third decade of life.	false
+c332c25a8f953dcd804e535595e792bf649fb857	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, @DISEASE$, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, visual impairment and ataxia in the second or third decade of life.	false
+9fd35e01ba0491ff268f2c76cdbabe45c1f6a5a3	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, @DISEASE$, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @PHENOTYPICFEATURE$ and ataxia in the second or third decade of life.	false
+01c92dff44a3bf5ae1861e9941d3f7d2b08aea66	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @PHENOTYPICFEATURE$ and ataxia in the second or third decade of life.	false
+ff9d106078d9c4b6405fa82771a508eb99bb2ca7	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @PHENOTYPICFEATURE$ and @DISEASE$ in the second or third decade of life.	false
+4176ceed477728eb1388fd95676ef054c2038bb6	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a combined immunodeficiency.	has_symptom
+3346fc8949815e2c1ea428eba3696db263058c76	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	false
+b2cd7258ced8d7b42e058e9bb08fb888c24f986b	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous @DISEASE$, cardiomyopathy, and a combined immunodeficiency.	false
+03192e38b1c85cc38390b21251dda3c09ee4419d	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, @DISEASE$, and a combined immunodeficiency.	false
+63b5eb494134a1d5384d8edb5f11565adffa3a9a	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	false
+e462e33043838bf9bfe2d9757ea140c85918d751	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous @DISEASE$, cardiomyopathy, and a combined immunodeficiency.	false
+fc6d3daaa8cfd60a40f239f132063b5255b57cab	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a @DISEASE$.	false
+1d351670b3a79574d17cfcd524b081f77994bcac	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a @DISEASE$.	false
+a782f4d111fa7fa5522d0808589d0b612be2eff5	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, @DISEASE$, and a combined immunodeficiency.	false
+69c35142ad2d663adb189ef6c2db7f92bbdc053c	To report and compile the ophthalmological features critical to diagnosis of @DISEASE$, a rare congenital disorder characterized principally by agenesis of the corpus callosum, cataracts, cardiomyopathy, immune defects, and @PHENOTYPICFEATURE$.	has_symptom
+4a92d1dfe523c631cf6584c8fc1b1c6793d3931e	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, immune defects, and @DISEASE$.	false
+eb4fea941193130b735298960e8c5f02d5a8f428	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, immune defects, and hypopigmentation.	false
+785b5066660c4ae4bd1be8f95aaa440e1f7d6a87	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, immune defects, and @DISEASE$.	false
+71aad3aaa4409f314ee0428475fe2673489cba2b	To report and compile the ophthalmological features critical to diagnosis of @DISEASE$, a rare congenital disorder characterized principally by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, immune defects, and hypopigmentation.	false
+954d2fc82de6408eee8033ca17ac4c639899fc8e	To report and compile the ophthalmological features critical to diagnosis of @DISEASE$, a rare congenital disorder characterized principally by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, immune defects, and hypopigmentation.	false
+4741321116896fd227538efc6c9b6b97f41b43d9	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, immune defects, and hypopigmentation.	false
+e6cd768d3756d70ad03b80465a1bd8b03687ddab	@DISEASE$ should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous @PHENOTYPICFEATURE$.	has_symptom
+774d8ecc67f5125623839a1b9ae5266f897a378c	Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, @PHENOTYPICFEATURE$, immune deficiency, or cutaneous @DISEASE$.	false
+1b8ef639ca648a1893a897a863d9090a0d57e934	@DISEASE$ should be suspected in any child with @PHENOTYPICFEATURE$ and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.	false
+95000c82146faf2981cf0210b5c9719edc282fe6	Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: @DISEASE$, @PHENOTYPICFEATURE$, immune deficiency, or cutaneous hypopigmentation.	false
+067c560b222fbf1f6a81f7686768f0de91a4871a	Vici syndrome should be suspected in any child with @PHENOTYPICFEATURE$ and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous @DISEASE$.	false
+2e4fbeb8b4b491f6be10dbeeacb73674ed6f171c	@DISEASE$ should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, @PHENOTYPICFEATURE$, immune deficiency, or cutaneous hypopigmentation.	false
+dd676de7e64ce880bee4d1cff13f31a88d6503f1	Vici syndrome should be suspected in any child with @PHENOTYPICFEATURE$ and one of the following findings: @DISEASE$, cataracts, immune deficiency, or cutaneous hypopigmentation.	false
+1c026153fa7d1c286e380ca5e6cd6eac44ea248a	@DISEASE$ is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	has_symptom
+3b3a0437772c775147928dd04a1ca29bf0d02ac7	Vici syndrome is a recessively inherited @DISEASE$ characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+c5b1b40bafa4b3ef6a5a2c5ffd8cecfb6f2f106b	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency and hypopigmentation.	false
+f01b40660f58c04017943135638b85aa0fdfcfad	Vici syndrome is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and @DISEASE$.	false
+ef064dee5ccb153285489869521bf497f3e4b8c7	@DISEASE$ is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+739f8d6eea249b1faa844e535d941ca1c4b3af59	Vici syndrome is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency and hypopigmentation.	false
+bbc6afafbd064709383a4969c83e5c2a5229cda9	@DISEASE$ is a recessively inherited multisystem disorder characterized by callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+f75e2310d6f76baf598ff6b744406676cd50c629	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and @DISEASE$.	false
+fccd9b6884d828550cb2054a260f706521e4de4d	Vici syndrome is a recessively inherited @DISEASE$ characterized by callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+409c26b44800d612fbff0caa1e0e09748fc463c7	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	has_symptom
+525d54347adcf93671dab2e81a24f9fd583ae1aa	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @DISEASE$.	false
+ed29794df46b28107d03907b78ed85d1ee470ef4	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+b510e438d33be9e447ab614e025810aba10bbc76	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+b90c7e51bc94adc7ffe08e86a5a792a4623d9111	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, psychomotor delay, and hypopigmentation.	false
+02d8a7c25ffb00210ad76309397ef00a57aea62f	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+d15daf7ca5b7a6482e9cde703f3201fdd2dedd1b	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @DISEASE$.	false
+bf6dc5a510eb6e949e75ce08b890a12c2d151a27	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+a8c5a40684e9813c17b20b9e2c2aa20a6affe91c	Vici syndrome is a rare autosomal recessively inherited @DISEASE$ characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+cab0e14bd98e43e3216ec4d467865c43a26143f1	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, psychomotor delay, and hypopigmentation.	false
+16827dbeb1d4db5057c07611018abde6a4380d7c	Vici syndrome is a rare autosomal recessively inherited @DISEASE$ characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+f31557d8d3a3c877f6af92345aa8cf9a3a642407	@DISEASE$ (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+04118e04ea9fe3a4bb976dc3c4690d3ccf233608	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency, developmental delay, and hypopigmentation.	false
+1a2767db395079d0af52aa9658662be6bcd076a0	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, developmental delay, and @DISEASE$.	false
+1a2c7fa144abad3a80f5daaaee880b7ce8ed08b0	@DISEASE$ (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation.	false
+ac30e02ed0397411b13b9f2af9c4a98a235da3b8	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency, developmental delay, and hypopigmentation.	false
+8ffd624fc5215e5c2fcb006c929a86dfb7ddeea0	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and @DISEASE$.	false
+bc5539c018e14439a2a7bd9abcfb21cc32dfdadf	@DISEASE$ (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation.	false
+e9a5235a8c9b07b2942be22961cf6de159ffb57d	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, developmental delay, and hypopigmentation.	false
+5fee06908f22f9b5dfbf4dad01f3521305052f5a	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, developmental delay, and hypopigmentation.	false
+9578abe63e65c3faa81bdd27ecc0521223f509b1	@DISEASE$ is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, and immunological abnormalities.	has_symptom
+f3fb8637ae0a15be124243621e6542bb669bf245	@DISEASE$ is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities.	false
+a021c318e6a5454744917863ba6955a8d978aa63	Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	false
+7f9c6d2eb8e115f7398fcf7f9372a793c6138ad3	Vici syndrome is a rare congenital @DISEASE$ characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities.	false
+6b9c1ab0d71a0294ab744524b56efefe849358b8	Vici syndrome is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, @DISEASE$, and immunological abnormalities.	false
+00fe718ad22b6426ff24ce3ffa94c84a05a664c6	@DISEASE$ is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	false
+ed159c8262aa75b33d1052a4fdc902caf3b81d8a	Vici syndrome is a rare congenital @DISEASE$ characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	false
+ee6afd632aafbd765258faa7ce2cad2e9e54b430	Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, @DISEASE$, and immunological abnormalities.	false
+45d06e28b602626bf710cb58bbe44d3ae4bdbd70	Vici syndrome is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, @DISEASE$, cataract, cardiomyopathy, and immunological abnormalities.	false
+df55bde1c32409c98799266e013552d2ef53102f	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	has_symptom
+33306cd5706f99c56ce4be5749051452ea88e67e	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+f31894763336616d6e0058edd0bfba402d2f444c	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+098517b49c9253ab9d380e915ba84b365c521e36	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+654fb50ff42f6780f946bffad0f7ee41ef572c40	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+6a644f10116e45df502dc1e15ca93e7d26beda23	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous @DISEASE$.	false
+933d68219eed1774c81d3b94c5d2ff94d727f186	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital @DISEASE$ characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+02bdec45932eaf89a929149e47b3c79782bf1c8d	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital @DISEASE$ characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+37d8df5fdc45d34c06ebc68573961c8c0b53c2cc	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @DISEASE$.	false
+167f259940537292fe478a5d12151e069a5278ef	@DISEASE$ is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	has_symptom
+f72c562925e1bfa98502d1be00224c45797eaca7	Vici syndrome is characterized by agenesis of the corpus callosum, @DISEASE$, immunodeficiency, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+9d5dd9a77de2589c968ab8ab3fd07a701b2f6a53	Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, @DISEASE$, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+73b45462e99087be5f6b4a8c2a0f9c2d2a2d4f35	Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, @PHENOTYPICFEATURE$, and @DISEASE$, with variable additional multisystem involvement.	false
+4b0cbe1c965e69bf65e5a797b744903499788473	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+17f5d0654b5b00e69c5114cc2c0ab798c2a79280	Vici syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+8a1eab9c39852d8b3ab4facfd18e14952cf68f23	@DISEASE$ is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+b00a0509d4826c2f72e42e4dd5dac941d25c1cfe	Vici syndrome is characterized by @PHENOTYPICFEATURE$, hypopigmentation, @DISEASE$, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+d6430ce566b76e1cad52d625fc249beca13801e7	Vici syndrome is characterized by @PHENOTYPICFEATURE$, hypopigmentation, immunodeficiency, cataracts, and @DISEASE$, with variable additional multisystem involvement.	false
+ec3fffc4fd58dec0eb36c38c4df7e2b0a5bdf85c	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	has_symptom
+1b5d395681efd237926c8c815d7432e910c1d94e	Vici syndrome is a rare, genetically unresolved congenital @DISEASE$ comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+142b58063e88c67b4a1819478a3cc7310e47ff3e	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, @DISEASE$, and hypopigmentation.	false
+0966f1aca3b1aa5583207d08abc3ecd100832a5e	Vici syndrome is a rare, genetically unresolved congenital @DISEASE$ comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+620875e980a0b41f6a6ca576ef886a5a485ed3da	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+5e1400e4e3e487c6d04cc9f7017750f3952052ab	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, @DISEASE$, cardiomyopathy, and hypopigmentation.	false
+30cc415bbe7454bd007020ebe765edaecc80cdf7	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+ced93bf807daf9f78c50bc1fd61283073d5f1021	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and @DISEASE$.	false
+aa5c62507c313a652b3aa0662ea966476dd8e913	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, @DISEASE$, and hypopigmentation.	false
+a8ff20455485242eeed1550c10657944a8ae13c0	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, cardiomyopathy, and @DISEASE$.	false
+f77240925f3b2d8474f708444d3d4f02eaf8b71d	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, and hypopigmentation.	false
+60e8dafc024eba474ff35d7fd9a9faaa031cab07	The authors believed this condition to be distinct from other diseases known at that time, e.g. the @DISEASE$, Marinesco-Sjogren syndrome and Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+e1baf27dab1eb11cfefd78f6aaa20813ab392c31	The majority of these patients were diagnosed with @DISEASE$, characterized by optic atrophy, @PHENOTYPICFEATURE$ and peripheral neuropathy.	has_symptom
+ce2c241c852f4e6c0503eaf6127bf56a762cbb72	The majority of these patients were diagnosed with @DISEASE$, characterized by @PHENOTYPICFEATURE$, ataxia and peripheral neuropathy.	false
+f719d4864f8fadf023eb234d80642b5c66e46998	The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e2e6db1f9d1627b674db34247a286ae9c2cedfb0	The majority of these patients were diagnosed with @DISEASE$, characterized by optic atrophy, ataxia and @PHENOTYPICFEATURE$.	false
+837687e4c44c3872bf42729dc93397b2bc1c849a	The majority of these patients were diagnosed with Behr syndrome, characterized by @PHENOTYPICFEATURE$, @DISEASE$ and peripheral neuropathy.	false
+d306d069b1031fe63fe6a7e35ce518553be7d613	A 6-year-old girl with a progressive syndrome of optic atrophy, @PHENOTYPICFEATURE$, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	has_symptom
+ce6f4e965bff38af04f5d3a24a1235aa610c7f9a	A 6-year-old girl with a progressive syndrome of @PHENOTYPICFEATURE$, @DISEASE$, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described.	false
+41a94f0957ce132c60a5a3bfa52da6f5da15b3d7	A 6-year-old girl with a progressive syndrome of @PHENOTYPICFEATURE$, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	false
+1579aeb133d92fd8cba83c43630aa78844ebc096	A 6-year-old girl with a progressive syndrome of optic atrophy, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described.	false
+4f2252a2995811b2c3287ab6bf91e882d7e1cc9f	A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, @PHENOTYPICFEATURE$ epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	false
+c03ac16b05967019f3bfe0c0c5b85791c6910944	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with @PHENOTYPICFEATURE$, spasticity, mental retardation, and posterior column sensory loss.	has_symptom
+d2a639399a33e21c029adcff62ac0b793b7b9040	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, spasticity, @PHENOTYPICFEATURE$, and posterior column sensory loss.	false
+47317f115bce3627d357ab72e1c18481cfa72e70	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss.	false
+2cebf4c51a9c659d2deff81776052059b58704ef	Behr syndrome is characterized by optic atrophy beginning in early childhood associated with @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, and posterior column sensory loss.	false
+11497bb53442aa9be0ce0f86f53ec69e5f957aa5	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, @PHENOTYPICFEATURE$, mental retardation, and posterior column sensory loss.	false
+77c8167abc6ef441b352c03efdebd58efc87bd24	Behr syndrome is characterized by @PHENOTYPICFEATURE$ beginning in early childhood associated with @DISEASE$, spasticity, mental retardation, and posterior column sensory loss.	false
+6b9a97ae2227f5bf4008306b7a3460b44d720e3f	Behr syndrome is characterized by optic atrophy beginning in early childhood associated with @DISEASE$, spasticity, @PHENOTYPICFEATURE$, and posterior column sensory loss.	false
+3ba6c190519f5aec45b786d201356bba0b91dc68	@DISEASE$ is an autosomal recessive disease characterized by early-onset @PHENOTYPICFEATURE$, optic atrophy and other signs such as pyramidal tract dysfunction.	has_symptom
+d033776698391dfb1b5f68492a07c3f105f20dbc	Behr syndrome is an autosomal recessive disease characterized by early-onset @DISEASE$, @PHENOTYPICFEATURE$ and other signs such as pyramidal tract dysfunction.	false
+ed998de69decb03fbd9ff86550223b3a04ba3cce	Behr syndrome is an @DISEASE$ characterized by early-onset ataxia, @PHENOTYPICFEATURE$ and other signs such as pyramidal tract dysfunction.	false
+da279143b5547051cbeaf5e9787be2d7f9d193ee	@DISEASE$ is an autosomal recessive disease characterized by early-onset ataxia, @PHENOTYPICFEATURE$ and other signs such as pyramidal tract dysfunction.	false
+dec546df71d766ab04d4c0e9ea06a715b2884fae	@DISEASE$ is characterized by the association of early onset optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs, peripheral neuropathy and mental retardation.	has_symptom
+87df62d9a12e73777772c6365a6bf65b64f21d18	Behr syndrome is characterized by the association of early onset optic atrophy, @DISEASE$, pyramidal signs, @PHENOTYPICFEATURE$ and mental retardation.	false
+050e8c04bbc32dc20b7cd16ba8a355dc42b57110	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, @PHENOTYPICFEATURE$ and mental retardation.	false
+293c54fdc52db40ca764ffb1881946fb64c7a58c	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+cfb3911c198b7f106c057ba31ea2b0522005920b	Behr syndrome is characterized by the association of early onset optic atrophy, @DISEASE$, pyramidal signs, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+90f72845fcec98f4a9d3915bbb5a8908ddd11122	Behr syndrome is characterized by the association of early onset @PHENOTYPICFEATURE$, @DISEASE$, pyramidal signs, peripheral neuropathy and mental retardation.	false
+a82abf2c9074e0db5c7f80dab5dde333cc917235	@DISEASE$ is characterized by the association of early onset @PHENOTYPICFEATURE$, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation.	false
+1a74d8e86a51e5d8741c68da073725d9397217f1	The present study describes a 10-year-old boy with @DISEASE$ presenting with early?onset severe optic atrophy, sensorimotor neuropathy, @PHENOTYPICFEATURE$ and congenital cataracts.	has_symptom
+c0e09106c6c163cdba1db90058d51617dbe5b755	The present study describes a 10-year-old boy with Behr syndrome presenting with early?onset severe @PHENOTYPICFEATURE$, sensorimotor neuropathy, @DISEASE$ and congenital cataracts.	false
+5256eaa8aa504c77787df37e3c28738f9975203a	The present study describes a 10-year-old boy with Behr syndrome presenting with early?onset severe @PHENOTYPICFEATURE$, sensorimotor neuropathy, ataxia and congenital @DISEASE$.	false
+117ab350c1bb72038fccb6d2a03738182116cdb9	The present study describes a 10-year-old boy with Behr syndrome presenting with early?onset severe @PHENOTYPICFEATURE$, sensorimotor @DISEASE$, ataxia and congenital cataracts.	false
+8b50a63110ddfbc71db4c2032c85e64fe380aece	The present study describes a 10-year-old boy with @DISEASE$ presenting with early?onset severe @PHENOTYPICFEATURE$, sensorimotor neuropathy, ataxia and congenital cataracts.	false
+5079f2c10723a5a9b199ada7773b52601234a4a1	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs and mental retardation.	has_symptom
+a0b5ac97e853a0fd7823f43497554858fe51fa34	Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @PHENOTYPICFEATURE$, @DISEASE$, pyramidal signs and mental retardation.	false
+894effa1051100ee1e56be8f3f8d0b3cbea83b4a	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and @PHENOTYPICFEATURE$.	false
+cd6dafe1daf66cfdb131610cdc6bd12b049a30fd	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @PHENOTYPICFEATURE$, ataxia, pyramidal signs and mental retardation.	false
+bb02f00829fa5319eb26363076ffbbb8c351ca64	Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, @DISEASE$, pyramidal signs and @PHENOTYPICFEATURE$.	false
+b0e8007c60e59400854eb38c54fc690b39f3f25f	Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by @PHENOTYPICFEATURE$ and pyramidal signs (@DISEASE$; OMIM #210000).	has_symptom
+41a248d86c6aa45c955a7134b1c41da302858b3a	Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset @PHENOTYPICFEATURE$ complicated by @DISEASE$ and pyramidal signs (Behr syndrome; OMIM #210000).	false
+4567f6dcc355c6cc8037f2fd62db35fd3b0afd87	Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset @PHENOTYPICFEATURE$ complicated by ataxia and pyramidal signs (@DISEASE$; OMIM #210000).	false
+45be869d37499241d5d6ab8f0a7443d4237c0ab1	@DISEASE$ often presents with @PHENOTYPICFEATURE$, diarrhea, and hematochezia.	has_symptom
+51c9e77c438739c1b8b38755c9165d54888f25c1	Common adverse events included flatulence, @PHENOTYPICFEATURE$, nausea, diarrhea, headache and worsening @DISEASE$.	has_symptom
+e021b20424f4895ab52b5d2e1960b582ae2add6c	@DISEASE$ (UC) produces bloody diarrhoea, severe @PHENOTYPICFEATURE$, and need for clinic visits, hospitalizations, and surgeries.	has_symptom
+732b27a746021760d0286f925e13f53a7b9703dc	Diarrhea, @PHENOTYPICFEATURE$, and long-standing @DISEASE$.	has_symptom
+bc836b17cc5990e38b87279e8e9dfb0c6dca3cdf	Intestinal ischaemia is an important part of the differential diagnosis in patients with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+def1639f43679f15b645797cbc212bb00ee31922	Recently a patient with @DISEASE$ developed @PHENOTYPICFEATURE$ and a left upper quadrant mass.	has_symptom
+e215e1b5b0f5cd21cd5196ce06b2a6909abe4336	Symptoms of @DISEASE$ include @PHENOTYPICFEATURE$, bloody diarrhea, bloating, and fecal urgency.	has_symptom
+4bfa608450d098109211e0d8d5e53c008f657e89	Comparison of rectosigmoid motility in normal children, children with recurrent @PHENOTYPICFEATURE$, and children with @DISEASE$.	has_symptom
+e939d9d2aeb8b45eac39a2b3380f0440be5f2d3b	Mucocele of the appendix: an unusual cause of lower @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+fecfc80c6acd914cb836112265e5761d8dd61572	@PHENOTYPICFEATURE$, rectal bleeding, diarrhea, and weight loss characterize both CD and @DISEASE$.	has_symptom
+9b49d723b0d5a0341951b3b1725274ca7eb368e1	Fetuses with 45,X/46,XX @DISEASE$ may demonstrate a lesser degree of @PHENOTYPICFEATURE$, at least for footlength, than those with a 45,X karyotype, but small numbers limited the analysis.	has_symptom
+c4ecddd0499259e47d0271aec91f898e0913fc55	@DISEASE$ is characterized by accelerated osseous maturation, craniofacial anomalies, @PHENOTYPICFEATURE$, psychomotor delay, hypotonia, pulmonary dysfunction, and limited life expectancy.	has_symptom
+aaaeecb6b417d9416fa8f78423e385072b308d5b	@DISEASE$ (MSS) is an infrequently described entity characterised by @PHENOTYPICFEATURE$, developmental delay, abnormal bone maturation and a characteristic face.	has_symptom
+f0cd5117701572f3b1a7add02fd1cf50684c086b	The @DISEASE$ is characterized by accelerated skeletal maturation, @PHENOTYPICFEATURE$ and dysmorphic features.	has_symptom
+794aa8c6c6ff8e0ca54b797dcb1d73c07c9f8fd3	@DISEASE$ is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative @PHENOTYPICFEATURE$.	has_symptom
+b9ba9f434ba9851ac426d260ed46ae2c79652dbc	We describe a girl with physical anomalies, accelerated skeletal maturation, @PHENOTYPICFEATURE$, and respiratory difficulties consistent with a diagnosis of @DISEASE$ (MSS).	has_symptom
+72a32e091de579f8b9213151b3678ea94b4a0809	@DISEASE$ is characterized by advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic facial features, and variable mental retardation.	has_symptom
+7e9c935ec3e33fd03759aa0582e735fcaa6b07b0	Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic @DISEASE$ features, and variable @PHENOTYPICFEATURE$.	false
+b02a55657ff357418ba6d10dd0a9cb034b8b04a4	Marshall-Smith syndrome is characterized by advanced bone age, @DISEASE$, respiratory problems, dysmorphic facial features, and variable @PHENOTYPICFEATURE$.	false
+e0bf3b0848bc6da8fd96e57e500b5a394a12ab7e	@DISEASE$ is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable @PHENOTYPICFEATURE$.	false
+239ce3d105579d4e43d4fb37f34805745efab527	The @DISEASE$ (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, @PHENOTYPICFEATURE$, and accelerated osseous maturation.	has_symptom
+a535547f7343942f7e438c9bdd11d08c55bba9e8	@DISEASE$ is characterized by overgrowth, advanced bone age, @PHENOTYPICFEATURE$, respiratory problems, dysmorphic facial features and variable mental retardation.	has_symptom
+50bc45ac99745763f3d6b1d8b4639383c66538b9	Marshall-Smith syndrome is characterized by @PHENOTYPICFEATURE$, advanced bone age, @DISEASE$, respiratory problems, dysmorphic facial features and variable mental retardation.	false
+236692715e6a7d0dcca5d87c040a710acb08b995	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation.	false
+da4631ed9e0b1c17dc39cdb127f9e5a10c2c94da	@DISEASE$ is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable @PHENOTYPICFEATURE$.	false
+b6fec7c2a5e22b681a0c8cbfc47cafef6e41da43	Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic @DISEASE$ features and variable @PHENOTYPICFEATURE$.	false
+7e5440b7067f778839f761c28374db7c7ff1731b	Marshall-Smith syndrome is characterized by @PHENOTYPICFEATURE$, advanced bone age, failure to thrive, respiratory problems, dysmorphic @DISEASE$ features and variable mental retardation.	false
+55466c5bb913289480ebfe60467292779d8f1fe3	Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, @DISEASE$, respiratory problems, dysmorphic facial features and variable @PHENOTYPICFEATURE$.	false
+aa6f46015e0e767201fa07d7c89df7793d832d71	@DISEASE$ (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, @PHENOTYPICFEATURE$, and respiratory difficulties.	has_symptom
+45c349119de2d39febbab58ecc6e43720f8c9cfd	@DISEASE$ is characterized by accelerated skeletal maturation, @PHENOTYPICFEATURE$ and dysmorphic features.	has_symptom
+b5b678bfe686d230d16d69aa609000b99d6a249b	In addition, various disorders are reported like @PHENOTYPICFEATURE$ (@DISEASE$), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary hypertension, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	has_symptom
+d7e00779c6dbd8302685f3bedcb536c14f989f46	In addition, various @DISEASE$ are reported like ventricular septal defect (VSD), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+60d70ed5538445bde439a43ad800f139f22c0a29	In addition, various disorders are reported like ventricular septal defect (VSD), mitral and tricuspid valves defects, aortic septal defect (@DISEASE$), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+ded22f8ad0dce25a41edc12ac3f90f71c3547c3f	In addition, various disorders are reported like ventricular septal defect (@DISEASE$), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+e4bc70a816aec224670df561c1d1d14c400bb0d5	In addition, various disorders are reported like @DISEASE$ (VSD), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+afe899fbf5a90e4a32ccd533aa5bf4d285b20ed0	Patients aged 2 months to 19 years old with a diagnosis of @DISEASE$, atrial septal defect, atrioventricular septal defect, @PHENOTYPICFEATURE$, aortic valve stenosis, or pulmonary valve stenosis with the need for follow-up echocardiography in an outreach clinic from August 2017 to June 2018 were studied.	false
+1c18d7497f8128f6219d35783a0adc39cda52e04	Patients aged 2 months to 19 years old with a diagnosis of @DISEASE$, atrial septal defect, atrioventricular septal defect, patent ductus arteriosus, @PHENOTYPICFEATURE$, or pulmonary valve stenosis with the need for follow-up echocardiography in an outreach clinic from August 2017 to June 2018 were studied.	false
+28b6e1b8da533de55cb9cd5d0bc9047c8ff4897a	The diagnosis was interrupted aortic arch (IAA), @PHENOTYPICFEATURE$ (VSD), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, aortic arch hypoplasia, @DISEASE$, and LVOTO (n = 1).	has_symptom
+30d0dd66899ffe5df614de7b55d4195817045029	The diagnosis was interrupted aortic arch (IAA), @PHENOTYPICFEATURE$ (@DISEASE$), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, aortic arch hypoplasia, VSD, and LVOTO (n = 1).	has_symptom
+dda9be3a777ae4ec9a748b18db0d3f1b14c0f71d	The diagnosis was interrupted aortic arch (IAA), @PHENOTYPICFEATURE$ (VSD), and LVOTO (n = 3); IAA and @DISEASE$ (n = 1); and aortic annular hypoplasia, aortic arch hypoplasia, VSD, and LVOTO (n = 1).	has_symptom
+5c56f75dabd2ee74c4db27188c721dcac94610a0	The diagnosis was interrupted aortic arch (IAA), @DISEASE$ (VSD), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, VSD, and LVOTO (n = 1).	false
+a0e0e18974baa399868f6f0005915db503b1e588	The diagnosis was interrupted aortic arch (IAA), ventricular septal defect (@DISEASE$), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, VSD, and LVOTO (n = 1).	false
+d66f0fc27c88015b3869db97d13b631e8af79ae9	The diagnosis was interrupted aortic arch (IAA), ventricular septal defect (VSD), and LVOTO (n = 3); IAA and @DISEASE$ (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, VSD, and LVOTO (n = 1).	false
+4a41c246a899364c891b35d7b6b9b357c968825a	The diagnosis was interrupted aortic arch (IAA), ventricular septal defect (VSD), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, and LVOTO (n = 1).	false
+ec6c623ae395e770ba5fca515426fb673c669910	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and @PHENOTYPICFEATURE$.	has_symptom
+955631f8d7cd26c53c02edec89ccad7eeb1bf73b	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+7d858586dfc555021cb41da96e27d7fd6e92cae7	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and craniosynostosis along with recognizable facial features and @DISEASE$.	false
+d129a62da35172f9d8808e151b109d2a972c1afd	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@PHENOTYPICFEATURE$, and craniosynostosis along with recognizable facial features and @DISEASE$.	false
+c167264ffeb1cae44f43cd88ab5346483ff65545	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+d88919e406dae40b83ad465dec8f3afa99f0da3e	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@PHENOTYPICFEATURE$, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+de20ebd71b3472eaa48ee1c402aa5d7249e6a8cd	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+8655c190178ecb5928113e601fcc50693f00b355	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+aa5f8e64b37ffb18e3f6fa45a7e3ef87974e88fd	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and @DISEASE$.	false
+e89a1c369856ee66574424c9f6a38d7ffc47266e	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-@PHENOTYPICFEATURE$, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	has_symptom
+49674d323e00e245bce5fb0f1a91a5c6c0dd3367	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+a934b82a4b5b03005c41e117dfafbdd35c601c76	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @DISEASE$ in one child.	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+b336a121c37c9a248558390136d6a3484e38b034	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+d9c1f0b741634801780e31896428763c3114d88a	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable @DISEASE$ in one child.	false
+e879fba77423dad7b21a0d061a1491879a761717	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable @DISEASE$ in one child.	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+12694b80821848c538600203729206533d7ba34a	We report the case of a 23-year-old woman with @DISEASE$ (VCFS) and a history of psychosis and @PHENOTYPICFEATURE$.	has_symptom
+744bcfae3b5f4ce4c520cd05a39d6d60617c0497	Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, @DISEASE$, characterized by skeletal dysplasia, @PHENOTYPICFEATURE$ and hepatosplenomegaly.	has_symptom
+43811a658754d353147eb78bfda1bf3b8e5bd9ac	Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, sialidosis type II, characterized by @PHENOTYPICFEATURE$, @DISEASE$ and hepatosplenomegaly.	false
+3eed3acefc9175f3eeb4ba1b92d9e52e9dfb325b	Sialidosis includes two main clinical variants: late-onset, sialidosis type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, @DISEASE$, characterized by @PHENOTYPICFEATURE$, mental retardation and hepatosplenomegaly.	false
+a4207bb82000af783e3c8e94f504f1459a130d39	Sialidosis includes two main clinical variants: late-onset, @DISEASE$ type I, characterized by bilateral macular cherry-red spots and myoclonus, and infantile-onset, sialidosis type II, characterized by @PHENOTYPICFEATURE$, mental retardation and hepatosplenomegaly.	false
+4a5f0faa352559374523618518ef70646e4fba27	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with skeletal dysplasia, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$, and hepatosplenomegaly (@DISEASE$).	has_symptom
+618a1a0edf679b58974e4467bac5fa574ad9321b	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, @DISEASE$, mental retardation, and hepatosplenomegaly (sialidosis type II).	false
+342adc45b3a276d6eaea3bd8f88484ecc64060db	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, @DISEASE$, and hepatosplenomegaly (sialidosis type II).	false
+58ad7b822def5925a3c75ef444ac58a566032137	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (@DISEASE$ type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, mental retardation, and hepatosplenomegaly (sialidosis type II).	false
+e83b3ea5a9539a295bcfafebbc23d8cf14c8c4e2	The disease is associated with progressive impaired vision, macular cherry-red spots, and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, mental retardation, and hepatosplenomegaly (@DISEASE$).	false
+dc0a368492f8c27841079d528feeff0d3f511884	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with skeletal dysplasia, Hurler-like phenotype, dysostosis multiplex, @PHENOTYPICFEATURE$ and hepatosplenomegaly (@DISEASE$).	has_symptom
+685cb74333e64529cc6139ba0d7b3455739e302e	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, mental retardation and hepatosplenomegaly (@DISEASE$).	false
+4d77a0f326fb743168d26829ecf1c18d80690026	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (@DISEASE$ type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, mental retardation and hepatosplenomegaly (sialidosis type II).	false
+e98aab10343849b134fc1bb2b459d43d858cc97d	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, @DISEASE$, mental retardation and hepatosplenomegaly (sialidosis type II).	false
+51ddc270f8355494a47065f07de51725e63a332f	The disease is associated with progressive impaired vision, macular cherry-red spots and myoclonus (sialidosis type I) or with @PHENOTYPICFEATURE$, Hurler-like phenotype, dysostosis multiplex, @DISEASE$ and hepatosplenomegaly (sialidosis type II).	false
+c66893df3eb7ec4b2f2b688fa04f8be8f888af5a	The severe early-onset form, @DISEASE$, is also associated with dysostosis multiplex, Hurler-like phenotype, @PHENOTYPICFEATURE$, and hepatosplenomegaly.	has_symptom
+7c91f6274ee992e421a3d94e760baa16c2f4b639	@DISEASE$, a human X-linked recessive basal ganglia disorder with @PHENOTYPICFEATURE$: localization to Xq27.3-qter.	has_symptom
+3284ac5fa2809143452c02c047f15ebe0ddcf7eb	Interestingly the gene locus of one miRNA, miR-175, is a candidate region for two neurologic diseases: early-onset parkinsonism (@DISEASE$) and X-linked @PHENOTYPICFEATURE$ (MRX3).	has_symptom
+de4a2f94ad32888c282ccdc013a79949813cb18d	The association between systolic cardiac dysfunction and @PHENOTYPICFEATURE$ development in patients with Duchenne muscular dystrophy (DMD) or @DISEASE$ (BMD) is generally assumed but has not been extensively studied.	has_symptom
+22c487c7ac141993f1b91ef5a1ecc78ca356eca8	The association between systolic cardiac dysfunction and @PHENOTYPICFEATURE$ development in patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (@DISEASE$) is generally assumed but has not been extensively studied.	has_symptom
+aa98cd1e9d15391d1e7442dcab5f0553776882d0	The hypertrichosis cubiti also named "@DISEASE$" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, @PHENOTYPICFEATURE$, developmental delay and bone anomalies.	has_symptom
+6b5d126f72e9c365356da515642b52a209762918	The hypertrichosis cubiti also named "hairy elbow syndrome" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and bone anomalies.	false
+aef9ad2d9f7c84c6b06fe060bf1dc9b88fc78cd6	The hypertrichosis cubiti also named "@DISEASE$" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including @PHENOTYPICFEATURE$, facial dysmorphism, developmental delay and bone anomalies.	false
+98f206309ae19d21a8bf6ac23a1bb6669a0f4d4c	@DISEASE$ is a treatable X-linked condition leading to progressive cardiomyopathy, @PHENOTYPICFEATURE$ and premature death.	has_symptom
+71cbe9ea77c650f22f9b083fbd09fdc2b092452f	This case suggests that ERT is limited for inhibiting the progression of @DISEASE$ and especially of @PHENOTYPICFEATURE$ and conduction disturbances.	has_symptom
+d4f2b968f933e791d921b58d7216455d3a75e86e	@DISEASE$ and treatment with agalsidase alpha: unsuspected @PHENOTYPICFEATURE$ in two heterozygous women.	has_symptom
+a93970e033c43970242abf604fbea494db07a144	The main complications of @DISEASE$ are a 100-fold increased risk of ischaemic stroke, cardiac disease, a wide variety of @PHENOTYPICFEATURE$, valvular dysfunction and cardiac vascular disease, as well as progressive renal failure usually associated with significant proteinuria.	has_symptom
+4117a6c725b12f2d6be087bd2c7f309eece34295	@DISEASE$ (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and @PHENOTYPICFEATURE$ burden; yet, the early cardiac phenotype of AFD is still poorly defined.	has_symptom
+93cd1cd69645c398622db99b55024ad13dbbb998	As the patient presented history of acroparesthesias, hearing loss, left ventricular hypertrophy with @PHENOTYPICFEATURE$ and corneal deposits, hemizygous @DISEASE$ was suspected.	has_symptom
+9879fbe890a09dc50b8cc7836bde4a11f7813b49	@PHENOTYPICFEATURE$ and Clinical Cardiac Findings in Children With @DISEASE$.	has_symptom
+c7e3501a5c6537fb75daca38c146bd4ae920b8b4	In particular, patients with renal @DISEASE$ are at risk of cardiovascular events, such as high blood pressure, @PHENOTYPICFEATURE$ and stroke.	has_symptom
+d37011085b10b85bdb64fc24da94e67666a80d41	Prevalence and clinical significance of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+cf542a387bf0246bd9da62e75aa0e0302435daa7	This result implicates paternal imprinting in the development of @PHENOTYPICFEATURE$ in @DISEASE$ type I a.	has_symptom
+1dfa244747b9a75b5e28e033d6e9e464afd52457	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @PHENOTYPICFEATURE$, round face, brachydactyly, and subcutaneous ossification.	has_symptom
+aa92654163a6d8c2fee9c467fce53909ecd394d7	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical @DISEASE$ caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+1b34e46597bdfc01e3c0d5985d3fa641035a99b3	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of @DISEASE$ (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+3d41dbc77f9b2954dfbc5847d5a4b7c12aeec846	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, @DISEASE$, round face, brachydactyly, and subcutaneous ossification.	false
+24cdd5cceb847cc47509243c11bfe6d66c704c90	Pseudohypoparathyroidism Ia (PHP-Ia), is an @DISEASE$ with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+d7e380e0b32a02e719ffcf8d0b40b42ccba73742	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+8c6be6a440deadd30cf31cb6526706c8fea2d318	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, @DISEASE$, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+f9a6f71a73017553616a4a4a722cc5d11e80eada	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical @DISEASE$ caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+c24a09a691e9618a9d109b9f6c5c3d2e8199120c	@DISEASE$ Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+985e49678789af4564c0eca32ba27b2fc0aa4cfc	Pseudohypoparathyroidism Ia (PHP-Ia), is an @DISEASE$ with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, @PHENOTYPICFEATURE$, and subcutaneous ossification.	false
+f8f8a849d4dec72be38069084eaa7afd37e88f6b	Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of @DISEASE$ (AHO), including @PHENOTYPICFEATURE$, obesity, round face, brachydactyly, and subcutaneous ossification.	false
+813c8ce2dbc883a60f4ba332b6831874a198bc3c	We report an infant with @DISEASE$ type Ia, who presented with @PHENOTYPICFEATURE$ and calcinosis cutis as a clue to diagnosis.	has_symptom
+27502572c519e8f91639099d59a6fe43cfe18d87	Case report of application of Ponseti method in treatment of neglected congenital @PHENOTYPICFEATURE$ in boy with @DISEASE$ who was 4 years and 9 months of age at the beginning of the treatment.	has_symptom
+491a5fee9e472a88e97067b905915f05294126de	[Application of Ponseti method in case of neglected @PHENOTYPICFEATURE$ in 4 years and 9 months old boy with @DISEASE$--case report].	has_symptom
+becfd507327116aa7b8b33b29d83f50f95845329	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @PHENOTYPICFEATURE$, obesity, gynecomastia, tapering fingers, and shortened toes.	has_symptom
+5938559f74b5af3a35631eeee1c7e2c4257fbf9a	The usual description of the B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	false
+ec7f669b8eabab5a4fe95bf367760c443e0a025b	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+1171dad9ac6b1cf2a489d74a89447c5e7b190bd6	The usual description of the B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+8603ac334b5e915cc757928585b7f75ea336330f	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	false
+d66c7de0028662d816519cc8735a3a795c7f1430	The usual description of the B?rjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @DISEASE$, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	false
+eead309cdc60508041f180a55114a123e9413e1c	The usual description of the B?rjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, @DISEASE$, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+b20968dc4ba8f9c34fa9d5f3e8d167f5a506371a	Contrary to initial reports, our men with @DISEASE$ had no microcephaly, seizures, or @PHENOTYPICFEATURE$.	has_symptom
+931845832e26cc274164e6061067141af58c8f44	Contrary to initial reports, our men with @DISEASE$ had no @PHENOTYPICFEATURE$, seizures, or short stature.	false
+883b545dda5a96632c0531e7faa9b8c8f468dfa6	Contrary to initial reports, our men with @DISEASE$ had no microcephaly, @PHENOTYPICFEATURE$, or short stature.	false
+285758f3da942652394a8e49d35f1dd64862e340	Contrary to initial reports, our men with BFLS had no microcephaly, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+57670922651eb4551839dd7ede70a8b60f2c6b8c	Contrary to initial reports, our men with BFLS had no @PHENOTYPICFEATURE$, seizures, or @DISEASE$.	false
+699895cfd09610c87517096759f7db10d9992f12	A previously unrecognised phenotype characterised by @PHENOTYPICFEATURE$, muscular hypotonia, and ability to speak in patients with @DISEASE$ caused by an imprinting defect.	has_symptom
+a606da193378cccea1aca0b86e0f77eb7d9d58bf	A previously unrecognised phenotype characterised by @DISEASE$, @PHENOTYPICFEATURE$, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.	false
+010bd15febd399ad9bdf2e5a2cedf862341a144e	A previously unrecognised phenotype characterised by obesity, @PHENOTYPICFEATURE$, and ability to speak in patients with @DISEASE$ caused by an imprinting defect.	false
+495b8365ea52aed2160a9f6cdac9472fe4098d3e	A paternal loss or duplication of the Prader-Willi syndrome/@DISEASE$ (PWS/AS) region confers a risk of obesity, although the mechanism remains a mystery due to a lack of an animal model that accurately recreates the @PHENOTYPICFEATURE$ phenotype.	has_symptom
+15229a39e0accfd0ff8afbb4cc757e4aa4bd967c	A paternal loss or duplication of the Prader-Willi syndrome/@DISEASE$ (PWS/AS) region confers a risk of @PHENOTYPICFEATURE$, although the mechanism remains a mystery due to a lack of an animal model that accurately recreates the obesity phenotype.	has_symptom
+82f2d50073345c3993c0b8f7c86da8148b47da2b	@PHENOTYPICFEATURE$ type B with its distinct facies and '@DISEASE$' are the same entity.	has_symptom
+955d8e57cc2ff1374780e1d2e45930c31c158adb	Here, we report a case of congenital anonychia and @PHENOTYPICFEATURE$ of the left foot, which possibly is a variant of @DISEASE$ with a positive family history of similar deformity.	has_symptom
+c57ec374cda6d2281c06fd05a26267e02b3adb1f	Congenital anonychia and @PHENOTYPICFEATURE$ of the left foot - @DISEASE$ variant: Case report and review of literature.	has_symptom
+26e526c076671daa2e91201b5acd73a4a0b332e3	We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and @PHENOTYPICFEATURE$, consistent with @DISEASE$.	has_symptom
+a163173fa973d7a39b75b396d9829a7a3d114d0b	A novel patient with @DISEASE$ supports splitting from "classic" @PHENOTYPICFEATURE$ type B.	has_symptom
+c37918b4321f57c5adb125389879b670f3279694	@DISEASE$ is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with @PHENOTYPICFEATURE$ of the fifth finger and digitalization of the thumb (triphalangism).	has_symptom
+10142d66187445efe95e2fcbd5a4c3ed090a7362	The ocular findings in patients with @DISEASE$ are heterogeneous and include blue sclerae, @PHENOTYPICFEATURE$, uveitis, retinopathy, and optic atrophy.	has_symptom
+d1346a27b0263bee5ba5296522a32b8282435537	The ocular findings in patients with mevalonic aciduria are heterogeneous and include blue sclerae, @DISEASE$, uveitis, retinopathy, and @PHENOTYPICFEATURE$.	false
+6f2347805ab4c31bb16922f71e567f517bd1a29b	The ocular findings in patients with mevalonic aciduria are heterogeneous and include blue sclerae, cataracts, @DISEASE$, retinopathy, and @PHENOTYPICFEATURE$.	false
+4c900224ed00d2c2c5b8784b4f9c39bc813d8dc6	The ocular findings in patients with @DISEASE$ are heterogeneous and include blue sclerae, cataracts, uveitis, retinopathy, and @PHENOTYPICFEATURE$.	false
+bd0747844bfe616e86bfc1319533d76d8d550bfd	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+e96f99cd07fd76462a11c955224d0689603181ad	Children with MVA syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3cb97096e99766411310754d63c60bef664b472e	Children with MVA @DISEASE$ die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, @PHENOTYPICFEATURE$, and cataracts.	false
+352a67ac4df60af136df65f98133c5265fc0d6b8	Children with MVA syndrome die at an early age, are @DISEASE$ prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+5cab470ac624d8fbe715c7aea79654769f649259	Children with MVA syndrome die at an early age, are @DISEASE$ prone, and have progeroid features like facial dysmorphisms, @PHENOTYPICFEATURE$, and cataracts.	false
+c3d07d27075262ff88dd7ec00d251f79df645af1	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, @PHENOTYPICFEATURE$, and cataracts.	false
+26f5a903e282174a5ab9b041e9273cd9f8b74a39	Children with MVA @DISEASE$ die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+be0c4477ee237a6b5a931c8f295f4533ceb24342	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+c0242d7054f75e3473aae84d90657cfdcd720527	Children with MVA syndrome die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+7b19a85e097b26b5eeb7fbe4f9f87f56812baf52	@DISEASE$ can be associated with RP and early onset @PHENOTYPICFEATURE$.	has_symptom
+d2155cdd48650b15b853ef6c925f60727fd4b657	@DISEASE$ in humans results from a genetic deficiency of mevalonate kinase and is characterized by very high plasma mevalonic acid levels, developmental malformations and @PHENOTYPICFEATURE$.	has_symptom
+72f38e46223e7f7ecaf846702bfac717ab173fed	Patients with @DISEASE$ also have intrauterine growth retardation, congenital defects (@PHENOTYPICFEATURE$, shortened limbs, and dysmorphic craniofacial features), neurological disease, and failure to thrive.	has_symptom
+0d044e8f63327e890b328471d7cde081749d4505	Patients with MVA also have intrauterine growth retardation, congenital defects (cataracts, shortened limbs, and dysmorphic craniofacial features), @DISEASE$, and @PHENOTYPICFEATURE$.	false
+23d687e47d83386f694cb4bcfac8337547209590	Patients with MVA also have intrauterine growth retardation, @DISEASE$ (cataracts, shortened limbs, and dysmorphic craniofacial features), neurological disease, and @PHENOTYPICFEATURE$.	false
+d5a061da262e13ed363266d209c2f2152ceeaef1	Patients with @DISEASE$ also have intrauterine growth retardation, congenital defects (cataracts, shortened limbs, and dysmorphic craniofacial features), neurological disease, and @PHENOTYPICFEATURE$.	false
+c4760b0363cca22fdb72dd34a28ceaeae1221294	Patients with MVA also have intrauterine growth retardation, congenital defects (@DISEASE$, shortened limbs, and dysmorphic craniofacial features), neurological disease, and @PHENOTYPICFEATURE$.	false
+b22a5f48047bd84267c538b11137e69b11cb4acf	Patients with MVA also have @DISEASE$, congenital defects (cataracts, shortened limbs, and dysmorphic craniofacial features), neurological disease, and @PHENOTYPICFEATURE$.	false
+a3ed969ca1d966e964633cf6f7bd6b626dfaa111	We investigated cortical functions of two @DISEASE$ (ULD) patients suffering from myoclonic jerks, but no @PHENOTYPICFEATURE$.	has_symptom
+1b2e07103c1b8974239e1ce6ba36962cb9838fe5	We investigated cortical functions of two Unverricht-Lundborg disease (@DISEASE$) patients suffering from myoclonic jerks, but no @PHENOTYPICFEATURE$.	has_symptom
+abb1155309c2a6d3b115af053d6a8ff870043556	We investigated with whole-scalp magnetoencephalography (MEG) oscillatory cortical drive to isometrically contracting muscle in 8 genetically verified, and thus etiologically homogeneous, Unverricht-Lundborg type progressive myoclonus epilepsy (@DISEASE$) patients suffering from cortical myoclonus and @PHENOTYPICFEATURE$.	has_symptom
+b97797ee9e98b7d9960d3986133dd3b6136c2c2f	SEPs to median nerve stimulation were repeatedly examined in two genetically proven @DISEASE$ patients manifesting stable condition over 16 years, namely disabling but non-progressive myoclonus and cessation of @PHENOTYPICFEATURE$.	has_symptom
+513c90be947ba0e3654b1661aaa6b621960ecb1b	In contrast to @DISEASE$ patients with @PHENOTYPICFEATURE$, responses of the primary somatosensory (SI) cortex were only slightly enhanced in the left and normal in the right hemisphere, and no early responses were observed in the ipsilateral SI.	has_symptom
+efd0282bedddf0a3d26837c85778f15713f39703	The most frequent early manifestations of @DISEASE$ include @PHENOTYPICFEATURE$ (GTCS) accompanied by myoclonus 2 years later.	has_symptom
+81307359794327e76fe62ba21998eeb1b0cbd469	We conclude that in @DISEASE$ patients without @PHENOTYPICFEATURE$, both the excitability of the SI and transcallosal conduction are relatively normal, probably decreasing susceptibility to generalized seizures.	has_symptom
+68c6e4f0e06ba220075b68205bbdbd3872e47234	We conclude that in @DISEASE$ patients without generalized tonic-clonic seizures, both the excitability of the SI and transcallosal conduction are relatively normal, probably decreasing susceptibility to @PHENOTYPICFEATURE$.	false
+3185985239c963177a437094aa9c808fc4af238e	We conclude that in ULD patients without @DISEASE$, both the excitability of the SI and transcallosal conduction are relatively normal, probably decreasing susceptibility to @PHENOTYPICFEATURE$.	false
+e2dc1e903c0a2ab91d36d790cc7c3cb0ed232ab6	Progressive myoclonus epilepsy type 1 (EPM1, also known as @DISEASE$) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent @PHENOTYPICFEATURE$, and a slowly progressive decline in cognition.	has_symptom
+1990362897bc080957d520d288dd286f512dd059	Progressive @PHENOTYPICFEATURE$ epilepsy type 1 (EPM1, also known as @DISEASE$) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent generalized tonic-clonic seizures, and a slowly progressive decline in cognition.	false
+9e4b4da96f864eed390e66a440073b7802beba12	Progressive @PHENOTYPICFEATURE$ epilepsy type 1 (EPM1, also known as Unverricht-Lundborg disease) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent @DISEASE$, and a slowly progressive decline in cognition.	false
+7ab9611e5f4369c900c4e3a3cb3884937bc0b0c1	In the presented patient with @DISEASE$, stroke-like @PHENOTYPICFEATURE$ occurred days after metabolic decompensation indicating ongoing (intracerebral) metabolic derangement.	has_symptom
+6388af6267a32d44dd949165c69359c291e24f37	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, @PHENOTYPICFEATURE$, spina bifida/encephalocele, cleft lip, @DISEASE$ and imperforate anus.	has_symptom
+09833ca9530bfcbe003183bf6411b14762d70d3f	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including @PHENOTYPICFEATURE$, hypospadias, hydrocephalus, spina bifida/encephalocele, cleft lip, @DISEASE$ and imperforate anus.	false
+203b486c70822ea9e51c792a9c7e8ffc1ccefc3e	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, hydrocephalus, spina bifida/encephalocele, @PHENOTYPICFEATURE$, @DISEASE$ and imperforate anus.	false
+c9200918c9e733b6aa433cbf57241a521a7f8a55	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, @PHENOTYPICFEATURE$, @DISEASE$, spina bifida/encephalocele, cleft lip, bladder exstrophy and imperforate anus.	false
+05d4bf000c29d25152134aa6a7354939e0563f71	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including @PHENOTYPICFEATURE$, hypospadias, @DISEASE$, spina bifida/encephalocele, cleft lip, bladder exstrophy and imperforate anus.	false
+35afe1c3a87cc517dc934185becf5b34bd8c8b60	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, @DISEASE$, spina bifida/encephalocele, @PHENOTYPICFEATURE$, bladder exstrophy and imperforate anus.	false
+824a10f3a0b3b0a9a9e449f1aba8955854e4202c	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, hydrocephalus, @PHENOTYPICFEATURE$/encephalocele, cleft lip, @DISEASE$ and imperforate anus.	false
+9595f59d6cf0676fa81dd5d523b732966a243baa	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, @PHENOTYPICFEATURE$, hydrocephalus, spina bifida/encephalocele, cleft lip, @DISEASE$ and imperforate anus.	false
+ed97876857810874c5b3d969839fb7f69a09905e	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, @DISEASE$, @PHENOTYPICFEATURE$/encephalocele, cleft lip, bladder exstrophy and imperforate anus.	false
+18dc444b5e08dfb276ebe809720e5dd1c0f1abdd	Five highest adjusted relative risks for birth defects among multiple births were: anencephalus, biliary atresia, @PHENOTYPICFEATURE$ without spina bifida, pulmonary valve atresia and stenosis, and @DISEASE$.	has_symptom
+528e91af2d5a8e36f977c6d32724cd2f3e5e9105	Five highest adjusted relative risks for birth defects among multiple births were: anencephalus, biliary atresia, @DISEASE$ without @PHENOTYPICFEATURE$, pulmonary valve atresia and stenosis, and bladder exstrophy.	false
+9137d5e2b56044e2f584b8d6a624961c63a04820	Five highest adjusted relative risks for birth defects among multiple births were: anencephalus, @PHENOTYPICFEATURE$, @DISEASE$ without spina bifida, pulmonary valve atresia and stenosis, and bladder exstrophy.	false
+c4759278f0a5df6c5b05360124123974d515f768	Five highest adjusted relative risks for birth defects among multiple births were: anencephalus, biliary atresia, hydrocephalus without @PHENOTYPICFEATURE$, pulmonary valve atresia and stenosis, and @DISEASE$.	false
+45dacf5918080c9f4d9a863bdfc2182d177c708a	Five highest adjusted relative risks for birth defects among multiple births were: anencephalus, @PHENOTYPICFEATURE$, hydrocephalus without spina bifida, pulmonary valve atresia and stenosis, and @DISEASE$.	false
+20ed554d7781326ae6ac862d1bf310a98f1ef48d	@DISEASE$ (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe @PHENOTYPICFEATURE$, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan.	has_symptom
+1bdfd345cd198fa11f37e45d98bdc7c8791f7266	Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, @PHENOTYPICFEATURE$ often culminating in blindness, and @DISEASE$ causing a shortened lifespan.	false
+5c81396445a4897857a3bbf4671d2170269b8d6c	@DISEASE$ (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, @PHENOTYPICFEATURE$ often culminating in blindness, and systemic disease causing a shortened lifespan.	false
+d2e30e8a892e46abde6c594d15c6bb4fb06242fe	Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, @PHENOTYPICFEATURE$ often culminating in @DISEASE$, and systemic disease causing a shortened lifespan.	false
+f7de12a5e86eb90b90e39b21db444f2c7425de3e	Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe @DISEASE$, motor and speech deficits, @PHENOTYPICFEATURE$ often culminating in blindness, and systemic disease causing a shortened lifespan.	false
+8a59fabd7769465db38e25a283051deb9c645cc3	Mucolipidosis type IV (MLIV) is an autosomal recessive, @DISEASE$ causing progressively severe intellectual disability, motor and speech deficits, @PHENOTYPICFEATURE$ often culminating in blindness, and systemic disease causing a shortened lifespan.	false
+dc6dcbb81dc3f6d5eadddaa2d0fe624e2f2d130c	@DISEASE$ is a rare, autosomal recessive disorder characterized by corneal opacification, @PHENOTYPICFEATURE$, and delayed motor milestones.	has_symptom
+51f70c0eb7c71294627738086ad4d4b5cbbb698f	Systemic findings in a 23-year-old white man with @DISEASE$ included early delayed psychomotor development, @PHENOTYPICFEATURE$, and mild facial dysplasia.	has_symptom
+40ff49847a8d5dec6e383cac0493c2918dca8c67	These inclusions underlie the autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ or FENIB.	has_symptom
+11ab19fea5059faf2f6d1d1e9e960830c003e16e	The autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ is characterized by the accumulation of ordered polymers of mutant neuroserpin within the endoplasmic reticulum of neurones.	has_symptom
+b1f50da746f404c8c27ebae63dc87338090ee0f1	Four hNS mutations are associated to a form of autosomal dominant @PHENOTYPICFEATURE$, known as @DISEASE$.	has_symptom
+aaece7e413e401a74daa60b261f14b3828e93c01	Mutations in human neuroserpin gene cause an autosomal @PHENOTYPICFEATURE$, @DISEASE$ (FENIB).	has_symptom
+48d665933072484cd09428bc582e5a39f74600a9	The neuronal serpin neuroserpin undergoes polymerisation as a consequence of point mutations that alter its conformational stability, leading to a neurodegenerative @PHENOTYPICFEATURE$ called @DISEASE$ (FENIB).	has_symptom
+109573a1ca6e7787aab8b90e88e86fb6b723f73a	Point mutations in the neuroserpin gene cause the autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ or FENIB.	has_symptom
+d20abf585edd837dbd8ce9759113095a67333105	Here we describe a new disease, @DISEASE$, characterized clinically as an autosomal dominantly inherited @PHENOTYPICFEATURE$, histologically by unique neuronal inclusion bodies and biochemically by polymers of the neuron-specific serpin, neuroserpin.	has_symptom
+c7009b2217c868b7ae18b1a2df434dcf964ee509	Mutants of neuroserpin are retained as polymers within the endoplasmic reticulum (ER) of neurones to cause the autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ or FENIB.	has_symptom
+e47a4569013ccc51b87c138be57d48596161055f	Point mutations in the neuroserpin gene underlie the autosomal dominant @PHENOTYPICFEATURE$, @DISEASE$.	has_symptom
+ef01b6fba63d75f35c328e69e5e387fd4534d5f5	It can undergo a conformational transition to form polymers that are associated with the @PHENOTYPICFEATURE$ @DISEASE$ and the wild-type protein can inhibit the toxicity of amyloid-beta peptides in Alzheimer's disease.	has_symptom
+544878a3047abe83ff5eb979996cc4030437cbda	@DISEASE$ is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, @PHENOTYPICFEATURE$, obesity, hypogonadism, and polydactyly.	has_symptom
+c62b1e2626fc6db2929d356546dde0a2fe8b13d1	Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, @DISEASE$, obesity, hypogonadism, and @PHENOTYPICFEATURE$.	false
+4c61c55987f678b2d89789f31121abbc0499bcf0	Laurence Moon Bardet Biedl syndrome is characterized as a rare @DISEASE$, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, @PHENOTYPICFEATURE$, hypogonadism, and polydactyly.	false
+5eb6aa19daa4f3659f9e4631b815c3a5c67dc445	@DISEASE$ is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, @PHENOTYPICFEATURE$, hypogonadism, and polydactyly.	false
+ec94c85dbd4663ed7a14547cbc8de40092e2b1fb	Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, hypogonadism, and polydactyly.	false
+ea3805b72b11e5df5a093693ea978a0148e485fd	Laurence Moon Bardet Biedl syndrome is characterized as a rare @DISEASE$, with a wide range of presenting symptoms such as @PHENOTYPICFEATURE$, decreased visual acuity, obesity, hypogonadism, and polydactyly.	false
+16a37b0537a03b9a7720f2b6a1428ad69c3e0c5a	Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as @PHENOTYPICFEATURE$, @DISEASE$, obesity, hypogonadism, and polydactyly.	false
+fb65170740874c9d8ae3c993c7c8e363ae7b0c38	Laurence Moon Bardet Biedl syndrome is characterized as a rare @DISEASE$, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, obesity, hypogonadism, and @PHENOTYPICFEATURE$.	false
+4b0d28b1e167cc6ad03a799f229c50401c46d29a	@DISEASE$ is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, obesity, hypogonadism, and @PHENOTYPICFEATURE$.	false
+cac16d138d62f4333c38af84044bdb062c79d2cb	@DISEASE$ is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as @PHENOTYPICFEATURE$, decreased visual acuity, obesity, hypogonadism, and polydactyly.	false
+e0101db8333e0b5e085e5d73726f036d470a97f1	Significant overlap and possible identity of @PHENOTYPICFEATURE$ capillary malformation and @DISEASE$ polymicrogyria-polydactyly hydrocephalus syndromes.	has_symptom
+0ad7879f82f1789415bb7c7a5321adc93a797917	Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly @PHENOTYPICFEATURE$ @DISEASE$.	false
+a8ae5ec1f74be022fe0b751188609b034565ccd3	Significant overlap and possible identity of @DISEASE$ capillary malformation and megalencephaly polymicrogyria-@PHENOTYPICFEATURE$ hydrocephalus syndromes.	false
+fd195c1e11e0962ce877da6dac3032e78390edc7	Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly @DISEASE$-@PHENOTYPICFEATURE$ hydrocephalus syndromes.	false
+bda2fdbf2606b76da500da9e223ed3d2caa07c94	Significant overlap and possible identity of @DISEASE$ capillary malformation and megalencephaly polymicrogyria-polydactyly @PHENOTYPICFEATURE$ syndromes.	false
+0dda81e8b6be31b77d9a41770391038792f34343	Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly @DISEASE$-polydactyly @PHENOTYPICFEATURE$ syndromes.	false
+5d4eb7e99a65ecf74b9e0305adee01f847389546	Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-@PHENOTYPICFEATURE$ hydrocephalus @DISEASE$.	false
+bfaa8255ca92e3e089b1c33bb5d4d3855567adbb	Significant overlap and possible identity of macrocephaly capillary malformation and @DISEASE$ polymicrogyria-polydactyly @PHENOTYPICFEATURE$ syndromes.	false
+52dc1b1e13a96f4986d258589a93b008c8532e9b	Significant overlap and possible identity of macrocephaly capillary malformation and @DISEASE$ polymicrogyria-@PHENOTYPICFEATURE$ hydrocephalus syndromes.	false
+eb15d24271f70b9d0e2a8fa6606bb7d45054380d	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	has_symptom
+be817dbe39afc01a2af714cd66b6923f659716f7	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	has_symptom
+ff1d305dd44574731a05f42dcbdc57cd25797521	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @DISEASE$, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+418add33a6f9d82e023535708a8af034697a9145	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+ee9831135af02d74aac4f29fef1551a443bbfdba	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, @DISEASE$, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+063afe62dcc99688299a7383adfc262f6372d7e5	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, @DISEASE$, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+7311f1282f903559f0f2813b330b76c0c744cbf4	Johanson-Blizzard syndrome (JBS) is a rare @DISEASE$ characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+22463098245e353b13abcd30d24ec47572ce9c43	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by @DISEASE$, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+86f70929cc585c702b64446065e4c09f980150f6	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+1e2a550fdf60c68ea678b2bd984b1c6c5e7590b1	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+ceb1e9d837813b824b5b554cc9fd741f67e0fc1c	Johanson-Blizzard syndrome (JBS) is a rare @DISEASE$ characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+f9551b292bf6216ebb07dd7f8df4022f84245389	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by @DISEASE$, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+e00f22fa74a73dafab7b34718be26d93f29acc6a	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+c790341f29043a11ac9aa2050706c35ac8ce7033	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @DISEASE$, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+999185b8476d6a34ab841564eeafcbfe20b61969	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, @DISEASE$, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+5d3fd73265c89988413f51155288100771e23a85	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	false
+6c0236a9d4946cf0b07eebc9fab1d1ebc9bac0da	We report here a Japanese infant with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+949f8bb1e57a72bb95ff5bd1ce368c6e82adeeb4	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and @PHENOTYPICFEATURE$.	has_symptom
+806a758e822bab1b7728093eb33a956d1bea14b4	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and @DISEASE$.	false
+e0bcf248866ce3c3ad8c596a54b62d21c3a5403f	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, @PHENOTYPICFEATURE$, @DISEASE$, absent permanent teeth, malabsorption, and failure to thrive.	false
+20b9ae70be896553ad47f5606b5d4a0b6d7c9a6d	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive.	false
+8d8b8a642ab9199cce0a6ca517af7de8096cbae4	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, absent permanent teeth, malabsorption, and failure to thrive.	false
+7abb7dd069e891d571de0ce33f50e11443b2b203	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, @PHENOTYPICFEATURE$, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive.	false
+f520408aafa32e3168d4c650f754092c38b9693a	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, @PHENOTYPICFEATURE$, hypothyroidism, absent permanent teeth, malabsorption, and @DISEASE$.	false
+0da80f410f6117627995b4f4f01493ebe69de05a	Partial @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+8965ad9701b544411f87be94a47a15b43d0a20a1	@DISEASE$ is a condition characterized by multiple @PHENOTYPICFEATURE$ of the joints.	has_symptom
+4dba86f1c0aeaa419f50a1c947e117c89dc41af8	Arthrogryposis multiplex congenita (@DISEASE$) refers to an aetiologically heterogenous condition, which consists of @PHENOTYPICFEATURE$ affecting two or more joints starting prenatally.	has_symptom
+a3482f7ef1e5f2408e2ddb33b92ece4f7aa05a1f	@DISEASE$ (AMC) refers to an aetiologically heterogenous condition, which consists of @PHENOTYPICFEATURE$ affecting two or more joints starting prenatally.	has_symptom
+d4491b85fafc93363ebd218420e35171faa8eefc	Arthrogryposis multiplex congenita (@DISEASE$) is a heterogeneous-symptom complex characterized by @PHENOTYPICFEATURE$ at birth that involve more than one part of the body.	has_symptom
+2b65898c6f29537e003ad991b54fb8fbf4a52519	@DISEASE$ (AMC) is a heterogeneous-symptom complex characterized by @PHENOTYPICFEATURE$ at birth that involve more than one part of the body.	has_symptom
+cf0a2319189213b46c1e0e7ae39a5e8d879e26bc	@DISEASE$ (AMC) is characterized by fixed @PHENOTYPICFEATURE$ and other deformities, sometimes resulting in fetal death.	has_symptom
+8b1981fba65d123c934a59330528fa77014ba285	Arthrogryposis multiplex congenita (@DISEASE$) is characterized by fixed @PHENOTYPICFEATURE$ and other deformities, sometimes resulting in fetal death.	has_symptom
+b6023655c8928e5770373cc843c323756eb96826	@DISEASE$ (AMC) consists of complex congenital anomalies characterized by multiple @PHENOTYPICFEATURE$.	has_symptom
+97d0c91f4043c8f7a312f84648c514d80e16dbe9	@DISEASE$ is a syndromic condition defined by @PHENOTYPICFEATURE$ of 2 or more joints.	has_symptom
+8b1f0d9849633de9dab9827b76b5835e8149343b	Arthrogryposis multiplex congenital (@DISEASE$) is a heterogeneous disorder, characterized by nonprogressive multiple intra-articular @PHENOTYPICFEATURE$, which can be recognized at birth.	has_symptom
+86279056bdd2f777c389e37246f4baf94d44cb95	@DISEASE$ (AMC) is a heterogeneous disorder, characterized by nonprogressive multiple intra-articular @PHENOTYPICFEATURE$, which can be recognized at birth.	has_symptom
+cd6c67ceb2ded694b053640f19dba41b5167ee87	@DISEASE$ (AMC) is a rare disorder characterized by non-progressive, multiple @PHENOTYPICFEATURE$.	has_symptom
+a24f88b695027f8a7924d4acd65432e80aa12581	Arthrogryposis multiplex congenita (@DISEASE$) is a rare disorder characterized by non-progressive, multiple @PHENOTYPICFEATURE$.	has_symptom
+f122d7ce5a81a3866aa796a44d0a096c1099d549	@DISEASE$ involving the upper extremity can be associated with significant @PHENOTYPICFEATURE$ of major joints.	has_symptom
+fbeedf4b5805e38476d4f4a3b745a15cf2011277	@DISEASE$ is a rare congenital disorder associated with multiple musculoskeletal @PHENOTYPICFEATURE$ that causes substantial morbidity.	has_symptom
+6473d6efb081a68c80f99e24d81f7dcdce57431e	The measurement of LPL activity and mass allows identification of the heterozygote state for @DISEASE$, which is characterized by variable expressions of @PHENOTYPICFEATURE$ and reduced HDL cholesterol.	has_symptom
+e2b67faaccc5dde9f5dbfa059bb145ed868a787a	A consanguineous family with Hirschsprung disease, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-@DISEASE$).	has_symptom
+506c20afcb5e986bea995f1a2c8e54bb41b0c52b	A consanguineous family with @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-Shprintzen syndrome).	false
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	false
+98c32a753d68151d5f8143eb70c0010366cbf27c	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and @DISEASE$ (Goldberg-Shprintzen syndrome).	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	has_symptom
+49674d323e00e245bce5fb0f1a91a5c6c0dd3367	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+0e95e707208fa7d83f50e39cd7546e5b77ec5236	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and @DISEASE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+f38e9abb54d87bd81a1e496c205c3adc1e5fe805	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and @DISEASE$, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1e7923f8ea15f5bc91b10737078a234f973396be	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1bc5dddf9004800f8a19d5630da5f8d4c91ee283	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and @DISEASE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+ec5749c67999349e85909cb6e0f1a072c0550c78	The behavioural phenotype of @DISEASE$ (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including @PHENOTYPICFEATURE$ (ID) and high risk of diagnosis of psychotic disorders including schizophrenia.	has_symptom
+2bb7ff4067f81afcd41d3f867a8002628630a600	Hirschsprung disease, unusual face, @PHENOTYPICFEATURE$, epilepsy, and congenital heart disease: Goldberg-@DISEASE$.	has_symptom
+e26d694cce4b53aa933647b968feab308b659b1b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	has_symptom
+d144f159d03a069a01751e85af0da458262785e4	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @DISEASE$, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+8be2bad1de56ea6984013aa4097d615918c90e6a	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic @DISEASE$ characteristics.	false
+a5263cd04138cacc1007da0d44ddc7075ec15c8b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+bd9a745b9f43a45480a85b3bdbb588ab78366b21	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple @DISEASE$ syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+7b0e56b7c25b2daccea9834c241fb27f4d565d93	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly @DISEASE$ distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	false
+624c4fae56d4975369383dc960a0d1df77fd6a2e	Goldberg-@DISEASE$ (GOSHS, MIM #609460) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, specific facial gestalt and Hirschsprung's disease (HSCR).	has_symptom
+5edfa5ceae921a6b2eb35862e64e700c5a612ae7	Patients with @DISEASE$ (22q11DS) have a high prevalence of psychiatric disorders and @PHENOTYPICFEATURE$.	has_symptom
+045f20a6413fd06c457759fd2949cdd3cfc5fc68	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	has_symptom
+3bf7679e457021ef66bad347679bf809f64bc473	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @DISEASE$, @PHENOTYPICFEATURE$, and axonal neuropathy.	false
+c1a16005d17ceb24de1160c1a17acae1a8808dea	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by intellectual disability, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1d3aa47f2f895361ccae2f918e46bd287771d418	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by intellectual disability, @PHENOTYPICFEATURE$, and axonal neuropathy.	false
+ed0a6df6fb3274be4575bb68c175ca40f79240d0	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the @DISEASE$ Goldberg-Shprintzen syndrome (GOSHS), which is characterized by intellectual disability, @PHENOTYPICFEATURE$, and axonal neuropathy.	false
+7f8684367a874e1fc9fa58c4f08df4b257af5d66	Autism, ADHD, @PHENOTYPICFEATURE$ and behavior problems in 100 individuals with @DISEASE$.	has_symptom
+5923e39db00fc077c535bd8538424e16890a98c4	CHD7 mutations have also been found in some patients with Kallmann syndrome, @PHENOTYPICFEATURE$, and anosmia, and we discuss the overlap between this syndrome and @DISEASE$.	has_symptom
+4e3a467794056b2b3eeff2589f9a861c9a7aa89f	These findings imply that patients diagnosed with @PHENOTYPICFEATURE$ and anosmia should be screened for clinical features consistent with @DISEASE$.	has_symptom
+a3b76e4ee7ba99b9578f5e56cf4c7d2418d80a73	@DISEASE$ is a multisystem disorder that, in addition to Kallmann syndrome/isolated @PHENOTYPICFEATURE$, has been associated with anterior pituitary hypoplasia (APH).	has_symptom
+da638909696a67486905a7797f33d8229e0d2d46	Anosmia predicts @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+34e54799a3a4a30f22f762057a54c61f0843c655	@PHENOTYPICFEATURE$ predicts hypogonadotropic hypogonadism in @DISEASE$.	false
+b59436dc481b3446982ed53e66073df580435346	@PHENOTYPICFEATURE$ predicts @DISEASE$ in CHARGE syndrome.	false
+fb7d4f35747a7e3ed134a2c53907119aa6c64de2	@DISEASE$ includes @PHENOTYPICFEATURE$ and abnormal olfactory bulb development.	has_symptom
+e306c6de81ab7c9c352b19bf5da17d6b148a3edd	In this systematic review, we describe what is currently known about growth in @DISEASE$ and how it is influenced by commonly seen clinical problems including feeding difficulties, @PHENOTYPICFEATURE$ and growth hormone deficiency.	has_symptom
+ca301d46bce83c21d64c6d34138ca7eb83a7364b	Kallmann syndrome (KS) is the combination of @PHENOTYPICFEATURE$ and anosmia or hyposmia, two features that are also frequently present in @DISEASE$.	has_symptom
+3af84ac3bd3e36a2269415744e8dfc452f9219be	Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia, two features that are also frequently present in @DISEASE$.	false
+98d97419d00c76b30b77ef80d3a0042265926867	@DISEASE$ (KS) is the combination of hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ or hyposmia, two features that are also frequently present in CHARGE syndrome.	false
+14aa5adc182f9d0f68471991fb9e7b78d37c1832	Kallmann syndrome (KS) is the combination of @DISEASE$ and @PHENOTYPICFEATURE$ or hyposmia, two features that are also frequently present in CHARGE syndrome.	false
+c47dddc8bca7f92f7d842d69d788b44216581c65	We performed endocrine and radiological studies to determine whether endocrinological disorders such as @PHENOTYPICFEATURE$, GH deficiency, or hypothyroidism are involved and also whether olfactory bulb hypoplasia and semicircular canal aplasia are major signs in patients with molecularly confirmed @DISEASE$.	has_symptom
+a2a81dbb2e5c306e27c429364f0e099469cee846	DW/J-grt is a congenital hypothyroid mouse model that is characterized by @PHENOTYPICFEATURE$, significantly lowered T3 and T4 levels, and severe @DISEASE$ related to TSH hyporesponsiveness.	has_symptom
+153002a696cdccd64c0b22d73399f4cfe7edc143	@DISEASE$ is a very rare disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive optic atrophy.	has_symptom
+9b099d10fd0974e3a889cc62552b2da223a11480	@DISEASE$ is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$.	false
+165626f33c22e21f0188c01fc379bb8ffe1cfc95	GAPO syndrome is a very @DISEASE$ disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$.	false
+c816587bb27c264ba093e3f39cdec2c12ced2204	GAPO syndrome is a very rare disorder characterized by @DISEASE$, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$.	false
+a27e63d288449e4faba08cbf371b4f42281ecf55	@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy (@DISEASE$) with congenital glaucoma.	has_symptom
+2d1e9ea4159fc44a5b6ff5af215636c162b75445	Growth retardation, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$ (@DISEASE$) with congenital glaucoma.	false
+2984ea981f3cc36dbfad709af1e9285abc55672b	@DISEASE$, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$ (GAPO syndrome) with congenital glaucoma.	false
+c92c9a129e25bb9984c7e2c49f5eb9bf988a4fb6	Growth retardation, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$ (GAPO syndrome) with @DISEASE$.	false
+3eabe1a760c2ad1820b2bfa9b0536fd18b7ab083	@DISEASE$ is a very rare genetic disorder characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and progressive optic atrophy (GAPO).	has_symptom
+d9c372c0fcfac452b45d43102d96a31dc18714a7	@DISEASE$ is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$ (GAPO).	false
+8cfdece1e810e89391738820037955fc7b1b39fa	GAPO syndrome is a very rare genetic disorder characterized by @DISEASE$, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$ (GAPO).	false
+169e9414fafcd00ab72a80e1961cd2acf614c525	GAPO syndrome is a very rare @DISEASE$ characterized by growth retardation, alopecia, pseudoanodontia and progressive @PHENOTYPICFEATURE$ (GAPO).	false
+c6e4f52e13d1c6d3bd3864c0a5f5fcb6fefa962a	[Ophthalmological anomalies of the @DISEASE$ (@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, optic atrophy).	has_symptom
+750072dbb716d996176b347723d8f0cb5cffc759	[Ophthalmological anomalies of the @DISEASE$ (growth retardation, alopecia, pseudo-anodontia, @PHENOTYPICFEATURE$).	false
+49655736263aa7d361f4ce2bbea3f36044b9ae6b	[Ophthalmological anomalies of the GAPO syndrome (@DISEASE$, alopecia, pseudo-anodontia, @PHENOTYPICFEATURE$).	false
+13a5b57f00552281179c759a41aa09a80d5325e2	@DISEASE$ is a rare autosomal recessive disease and an acronym composed of @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, optic atrophy.	has_symptom
+244457fa950b641d03d5f1fa254cb1a58aa1308a	GAPO syndrome is a rare autosomal recessive disease and an acronym composed of @DISEASE$, alopecia, pseudoanodontia, @PHENOTYPICFEATURE$.	false
+63bc2761ca05c380163f6497638c81bb877c002b	GAPO syndrome is a rare @DISEASE$ and an acronym composed of growth retardation, alopecia, pseudoanodontia, @PHENOTYPICFEATURE$.	false
+211e56ce2ff347154fb486f7eef379cc7df8a9d3	@DISEASE$ is a rare autosomal recessive disease and an acronym composed of growth retardation, alopecia, pseudoanodontia, @PHENOTYPICFEATURE$.	false
+1decc84931b91c01d401f86b215b738b38190aaa	[The @DISEASE$ (@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, optic atrophy).	has_symptom
+8252511be9d063007a6fdab6d1d8eb000853d7c2	[The GAPO syndrome (@DISEASE$, alopecia, pseudo-anodontia, @PHENOTYPICFEATURE$).	false
+ee76cf7562f3171acc808c32963243c1c9bed627	[The @DISEASE$ (growth retardation, alopecia, pseudo-anodontia, @PHENOTYPICFEATURE$).	false
+c2961f3336060fc9c6e30ee95e8be3e863eac641	@PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, and optic atrophy--the @DISEASE$: report of a patient and review of the literature.	has_symptom
+c3b18f34e6aa924dddd79abc9f49c883671e1a82	@DISEASE$, alopecia, pseudo-anodontia, and @PHENOTYPICFEATURE$--the GAPO syndrome: report of a patient and review of the literature.	false
+ef74606dc7acda4831980a27de99bc22a1ae8229	Growth retardation, alopecia, pseudo-anodontia, and @PHENOTYPICFEATURE$--the @DISEASE$: report of a patient and review of the literature.	false
+64728110f814acd2a2fa8bb16d308917ccc5ffef	@DISEASE$ is a rare autosomal recessive disorder whose main manifestations are: @PHENOTYPICFEATURE$, alopecia, pseudoanodontia and optic atrophy.	has_symptom
+e7c7f90076777784ac4a66ce20fe3f97559d16e4	GAPO syndrome is a rare autosomal recessive disorder whose main manifestations are: @DISEASE$, alopecia, pseudoanodontia and @PHENOTYPICFEATURE$.	false
+3dc97b6be2e31a39509ab3db858f28f896554fbd	@DISEASE$ is a rare autosomal recessive disorder whose main manifestations are: growth retardation, alopecia, pseudoanodontia and @PHENOTYPICFEATURE$.	false
+6055423a0412e6297435cb82fc81a5a067ff1e02	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and ophthalmic abnormalities.	has_symptom
+0c2a0a5a6b4d92f9c255f8e35f96f320d5488b08	@DISEASE$ (OMIM#230740) is the acronym for @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy.	has_symptom
+872e86ed16e8d305b64499508edaa83f439c7fa3	@DISEASE$ (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$.	false
+7daaceef985503edebfe114b7d4af603d0ffbd2b	GAPO syndrome (OMIM#230740) is the acronym for @DISEASE$, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$.	false
+f3dab361e46b290fe8d306ac92320fc6bf48d39a	Mutations in claudin 14 (CLDN14) cause nonsyndromic @DISEASE$ @PHENOTYPICFEATURE$ in humans.	has_symptom
+750746a77a314e7d4668637b3907e67d3ba63194	Clinical manifestations of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+91bec5d881bdb9dfed9fcbaf511d555fc79885f5	Premature ovarian failure associated with @DISEASE$ presents clinicians with a vast range of health concerns, including infertility, cardiovascular disease, and @PHENOTYPICFEATURE$, in addition to psychological sequelae.	has_symptom
+449450f3fa94b85743d3e41ec755dcccd9520b56	@DISEASE$ is a rare syndrome including Potter sequence, renal anomalies, heart defects, @PHENOTYPICFEATURE$ with other oropharyngeal anomalies.	has_symptom
+c05b2a89f4c3f7dc6b497cffeede8f104bfe7b13	@DISEASE$ is a rare syndrome including Potter sequence, renal anomalies, @PHENOTYPICFEATURE$, cleft palate with other oropharyngeal anomalies.	false
+f139a43bc745dde7f472c56563da1e90455135c2	Thomas syndrome is a rare syndrome including Potter sequence, renal anomalies, @PHENOTYPICFEATURE$, @DISEASE$ with other oropharyngeal anomalies.	false
+c0bf7ac5d761ee17e003887d6b9a19f62014c5e9	@DISEASE$ is a rare syndrome including Potter sequence, @PHENOTYPICFEATURE$, heart defects, cleft palate with other oropharyngeal anomalies.	false
+cb259e34a7ebf88a298ec0679f0569e660db7e36	Thomas syndrome is a rare syndrome including Potter sequence, @PHENOTYPICFEATURE$, heart defects, @DISEASE$ with other oropharyngeal anomalies.	false
+f1bf71c42583a710b6b673de6759407391379772	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+8541fb094f45948e6170bc16039b060bdf8f4773	Ohdo syndrome (MIM 249620) is a multiple @DISEASE$ characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and @PHENOTYPICFEATURE$.	false
+68c4a60538dee38778261d3784633747bee1de90	Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+73a0a0be8206ba1a504e8941a63216c433dd769a	Ohdo syndrome (MIM 249620) is a multiple @DISEASE$ characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, hearing impairment and intellectual disability.	false
+207deac6670e64a98f899b30469a92b1503e7cb1	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and @PHENOTYPICFEATURE$.	false
+99f86b1f700591733133c3ecde9ffa57a173e4b9	Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, @DISEASE$ and intellectual disability.	false
+7b4cba9867c2358b42511c680a430fc522ed2b01	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, hearing impairment and intellectual disability.	false
+7b3a2250af62e533d1398f8c2a145cd0334560a9	We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and @PHENOTYPICFEATURE$) are consistent with a diagnosis of the @DISEASE$.	has_symptom
+b01c47492ec9c06d23731dc957b4df313e337a60	We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, @PHENOTYPICFEATURE$, and cleft palate) are consistent with a diagnosis of the @DISEASE$.	false
+c14cb32963ac693a25a9b07d27cf99f5c117062e	We present two sisters whose malformations (@PHENOTYPICFEATURE$, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the @DISEASE$.	false
+fbeaa2d0d55e1364075e63e5ded95140c40d6078	We present two sisters whose malformations (@PHENOTYPICFEATURE$, cystic dysplasia of the kidneys, polydactyly, and @DISEASE$) are consistent with a diagnosis of the Meckel syndrome.	false
+4773ba22f252b52bf0e348a52c96dd18ac56d09f	We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, @PHENOTYPICFEATURE$, and @DISEASE$) are consistent with a diagnosis of the Meckel syndrome.	false
+e8fb7baecfc050d6335c101bfb660846028e3484	The association of occipital encephalocele, @PHENOTYPICFEATURE$, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as @DISEASE$ (MGS).	has_symptom
+bf688c578d23df3ac8ebf52293e87bd8235bc940	Interstitial and terminal deletions described are in the range of 10-50 cM and enable the tentative mapping of loci for @PHENOTYPICFEATURE$ and hearing loss, features which are not part of the @DISEASE$ clinical spectrum.	has_symptom
+59b4dd5a1416dfdab04b9c94c4b9e1cdc42b503a	Goldberg-@DISEASE$: Hirschsprung disease, hypotonia, and @PHENOTYPICFEATURE$ in sibs.	has_symptom
+a5820e80d83b90beada52b422b4954b6762efec6	The classic features of @DISEASE$ include prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant @PHENOTYPICFEATURE$.	has_symptom
+77a012d25f97bd995d65401c7d4bc60b18cd5ebe	The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, @PHENOTYPICFEATURE$, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant @DISEASE$.	false
+cca762aab7b6eec5845ec4b1b9bfb5452750d546	The classic features of Bohring-Opitz syndrome include prominent metopic suture, exophthalmos, @PHENOTYPICFEATURE$, @DISEASE$, flexion deformities of the upper limbs, nevi flammei, and significant neurodevelopmental delay.	false
+d9b90637949ecf5295dbdbce371d9e43e0281183	The classic features of @DISEASE$ include prominent metopic suture, exophthalmos, @PHENOTYPICFEATURE$, cleft lip and palate, flexion deformities of the upper limbs, nevi flammei, and significant neurodevelopmental delay.	false
+848a7c8d6e4d79461b31de293d6e10a935906883	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), @DISEASE$ (CMD), @PHENOTYPICFEATURE$, deafness and ankylosis syndrome (MRDA).	has_symptom
+0fa9c0cfd4172d22a0663204015861b25630e923	Dominant or recessive mutations in the progressive @DISEASE$ gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+e117793f59c998fa5ef5c71d7f15a5982959063f	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (@DISEASE$), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+dae81e45bfdef1e12b562233db5a04fcd0222b49	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, @PHENOTYPICFEATURE$ and ankylosis @DISEASE$ (MRDA).	false
+5ca39279c4214c5bc84d7102822843f5881de51f	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), @DISEASE$, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+b3a6c47063176d0569da643f4ab8fde5270baae2	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial @DISEASE$ (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+1b01b8ab8b9aa3bd9e2a1a2812f11c4969a15877	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), @DISEASE$ (CMD), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+3d0b8855d0127296dcf833644d5e2e81007b2e69	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$ syndrome (MRDA).	false
+6ec15ad7959f690637d0452fbcbfda329069cb34	[Familial @DISEASE$ associated with @PHENOTYPICFEATURE$].	has_symptom
+4d42d32cf5e38c6571e3bbdd48bd1d78be467bac	Sibs with @PHENOTYPICFEATURE$, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, @DISEASE$, or a new syndrome?	has_symptom
+757ed0f84db0de3ac7501e2dcfefe9577be98e94	Sibs with mental retardation, supraorbital sclerosis, and @PHENOTYPICFEATURE$: frontometaphyseal dysplasia, @DISEASE$, or a new syndrome?	false
+99973137ed8c25f16cd2efa6c944e04a92c85a33	Sibs with mental retardation, supraorbital sclerosis, and @PHENOTYPICFEATURE$: @DISEASE$, craniometaphyseal dysplasia, or a new syndrome?	false
+25a377fb8912dec8b16ae0e769b4e49f62c61057	Sibs with @DISEASE$, supraorbital sclerosis, and @PHENOTYPICFEATURE$: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?	false
+93d3a0925764804847d5b42bfd7f9c7ba7d2597d	The clinical picture in the two patients described, characterized by @PHENOTYPICFEATURE$, dwarfism, microcephaly, alopecia, @DISEASE$, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	has_symptom
+ab7758dcf8cf513c815d5e4c74127cf6f1b77d52	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, @DISEASE$, @PHENOTYPICFEATURE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+9c442e7152963f089a30cae1e916a1697b57c09c	The clinical picture in the two patients described, characterized by @DISEASE$, dwarfism, @PHENOTYPICFEATURE$, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+89a73eddbc6e777c20647f8d0d4e1e8c9f57a908	The clinical picture in the two patients described, characterized by @DISEASE$, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, @PHENOTYPICFEATURE$, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+331572d8ecca8dbd325d310197be9672a20ff109	The clinical picture in the two patients described, characterized by mental retardation, dwarfism, @PHENOTYPICFEATURE$, alopecia, @DISEASE$, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date.	false
+5742ddbbf627abd1035bfbbdc1d39d776f750530	We report on 2 patients with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+486102a1bdc566b037bee0b6feeca9342c93fb3f	X-linked @PHENOTYPICFEATURE$, microcephaly, and growth delay associated with hereditary @DISEASE$: report of a second family.	has_symptom
+d9e3e91c9c80034457b51bf73ab2b349cff0fb12	X-linked mental retardation, @PHENOTYPICFEATURE$, and growth delay associated with hereditary @DISEASE$: report of a second family.	false
+a74420b31ccf59199aea11fda53652033e40a896	X-linked @DISEASE$, @PHENOTYPICFEATURE$, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.	false
+0747cc822856ed56876bbc4714356d3e587e30cb	Darier's disease, @PHENOTYPICFEATURE$, Oudtshoorn disease, @DISEASE$, 'badpak' ichthyosis, epidermolytic hyperkeratosis, the 'half-baby' syndrome, exfoliative dermatitis, hair dystrophy and selected precancerous conditions.	has_symptom
+a82ebad3a558a898fbca4eacd0af31aadf79e6f5	Indications for EGD include anemia, @DISEASE$ abdominal pain, @PHENOTYPICFEATURE$, nausea and vomiting, and persistent diarrhea refractory to antibiotic therapy.	has_symptom
+7295f2b9d21c962a5f1bad611757cc5a7aa2f53b	Indications for EGD include anemia, upper abdominal pain, @DISEASE$, @PHENOTYPICFEATURE$, and persistent diarrhea refractory to antibiotic therapy.	false
+5cb42ce9f649743ca200b8919e2a9ae662f76d75	Indications for EGD include anemia, upper abdominal pain, weight loss, @PHENOTYPICFEATURE$, and persistent @DISEASE$ refractory to antibiotic therapy.	false
+6c436c7e1dea07e1e873b3437e9f073e84ddcaf1	Indications for EGD include @DISEASE$, upper abdominal pain, weight loss, @PHENOTYPICFEATURE$, and persistent diarrhea refractory to antibiotic therapy.	false
+4cd48bfdc6d1f7428c47357e1affe19d50b6316d	Indications for EGD include anemia, @DISEASE$ abdominal pain, weight loss, @PHENOTYPICFEATURE$, and persistent diarrhea refractory to antibiotic therapy.	false
+0a53122b4bc4c08e206d8a8a11204749d6da906c	Patients included in the study were over 40 years of age and had symptoms suggestive of pancreatic disease such as @DISEASE$ abdominal pain, discomfort or mass, jaundice, @PHENOTYPICFEATURE$, or diabetes.	has_symptom
+0d983a9e00df8304832ea4bd193d94f618532e7b	Patients included in the study were over 40 years of age and had symptoms suggestive of pancreatic disease such as @DISEASE$ @PHENOTYPICFEATURE$, discomfort or mass, jaundice, weight loss, or diabetes.	false
+eab2f00f8f5c3ad3047a24f0f41a55915c3cf40e	Patients included in the study were over 40 years of age and had symptoms suggestive of pancreatic disease such as upper @PHENOTYPICFEATURE$, discomfort or mass, jaundice, @DISEASE$, or diabetes.	false
+ce1f5f7cda7499f6a6d54b3c3e04594dcfb86d26	Univariate analysis revealed that PTB was significantly associated with young age, lack of human immunodeficiency virus (HIV) infection, @PHENOTYPICFEATURE$, night sweats, fever, @DISEASE$ lobe disease and, especially, cavitary lesions on chest X-ray (adjusted OR 25.4, p <0.0001).	has_symptom
+8d6e69838cec95e2661aa5018c22f8b70c993041	Univariate analysis revealed that PTB was significantly associated with young age, lack of human immunodeficiency virus (@DISEASE$) infection, weight loss, night sweats, @PHENOTYPICFEATURE$, upper lobe disease and, especially, cavitary lesions on chest X-ray (adjusted OR 25.4, p <0.0001).	false
+28c5758064b8b888c2d149d081b43af26ab4731a	Univariate analysis revealed that PTB was significantly associated with young age, lack of human immunodeficiency virus (HIV) infection, @DISEASE$, night sweats, @PHENOTYPICFEATURE$, upper lobe disease and, especially, cavitary lesions on chest X-ray (adjusted OR 25.4, p <0.0001).	false
+3dfae5de669d86b32424cb3e0dd48618b2e4db6d	Univariate analysis revealed that PTB was significantly associated with young age, lack of human immunodeficiency virus (HIV) infection, weight loss, night sweats, @PHENOTYPICFEATURE$, @DISEASE$ lobe disease and, especially, cavitary lesions on chest X-ray (adjusted OR 25.4, p <0.0001).	false
+73f9cf434b15914a47fbe5ba5d5ea5372e0192fc	Univariate analysis revealed that PTB was significantly associated with young age, lack of human immunodeficiency virus (HIV) @DISEASE$, weight loss, night sweats, @PHENOTYPICFEATURE$, upper lobe disease and, especially, cavitary lesions on chest X-ray (adjusted OR 25.4, p <0.0001).	false
+baa59323f973a6e19336a6fc8995fbab503fc4b2	These include loss of lower (ventral horn) and @DISEASE$ motor neurons (corticospinal motor neurons in layer V), mutant profilin1 aggregation, abnormally ubiquitinated proteins, reduced choline acetyltransferase (ChAT) enzyme expression, fragmented mitochondria, glial cell activation, muscle atrophy, @PHENOTYPICFEATURE$, and reduced survival.	has_symptom
+5d1c39c6049eaf9da1af41210732c9b741220577	These include loss of lower (ventral horn) and upper motor neurons (corticospinal motor neurons in layer V), mutant profilin1 aggregation, abnormally ubiquitinated proteins, reduced choline acetyltransferase (ChAT) enzyme expression, fragmented mitochondria, glial cell activation, @PHENOTYPICFEATURE$, @DISEASE$, and reduced survival.	false
+f443b6811e16b3320fc410715e6096374cedbdda	These include loss of lower (ventral horn) and @DISEASE$ motor neurons (corticospinal motor neurons in layer V), mutant profilin1 aggregation, abnormally ubiquitinated proteins, reduced choline acetyltransferase (ChAT) enzyme expression, fragmented mitochondria, glial cell activation, @PHENOTYPICFEATURE$, weight loss, and reduced survival.	false
+ce9c689dcc82d86cce3e1affcc90e82f03ddeee3	Two had fever, @PHENOTYPICFEATURE$, and @DISEASE$ abdominal pain.	has_symptom
+c1c46737e657d95d2881b1ef995123553b238b0c	Two had fever, weight loss, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+bb3ee2584b733d3be4e23544b1cd20746b1c7bf7	Two had fever, @DISEASE$, and upper @PHENOTYPICFEATURE$.	false
+e6c03f4dc765a219724a5bc6a95371813d51d2b6	We have isotopically determined rates of whole-body protein synthesis and catabolism in a group of normal volunteers and in two groups of cancer patients: 20 patients with advanced weight-loss (AWL) @DISEASE$ gastrointestinal cancer and 7 patients with early non-@PHENOTYPICFEATURE$ (ENWL) lower gastrointestinal cancer.	has_symptom
+4eb2cc19ca7ed6f72d0593a51ec484ab9134e7e6	Squamous cell carcinomas and @PHENOTYPICFEATURE$ were reported the causes of death in patients with @DISEASE$ (RDEB).	has_symptom
+985aef025bc4f4310a7381328d2ffde2b04acc83	@PHENOTYPICFEATURE$ and infectious disease are strongly associated with morbidity and mortality in patients with severe generalized @DISEASE$ (RDEB-sev gen).	has_symptom
+bb70f97c1cfc53bdd8370a3e85f18748f00f45e6	Favorable long-term outcome following severe neonatal hyperammonemic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+6edd483684f390f1ad6a3107930828b7bbdfcadd	The therapy was effective in avoiding neonatal hyperammonemic @PHENOTYPICFEATURE$ and death in seven patients with carbamoyl phosphate synthetase deficiency, @DISEASE$, and argininosuccinate lyase deficiency.	has_symptom
+f65c66aeb94589cf9e34244e50eb0ca790846e6c	Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., @DISEASE$, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and seizures in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 @PHENOTYPICFEATURE$, and 4 died.	has_symptom
+b5afb4088805a460c3c4d6712f24a1291131064b	Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., dystonia 9, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and @PHENOTYPICFEATURE$ in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 @DISEASE$, and 4 died.	false
+1ef320e9be950b95bd9eb3f804fc30d28660f8d5	Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., @DISEASE$, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and @PHENOTYPICFEATURE$ in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 cognitive impairment, and 4 died.	false
+a3585a3dc435db51a9585ba0458312b344b6d706	@DISEASE$ is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and @PHENOTYPICFEATURE$.	has_symptom
+edeaf32f4b2b0ab8cd5c45f2b4ac556a2fa0472d	@DISEASE$ is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, @PHENOTYPICFEATURE$, and intellectual disability.	false
+49e93d0c71059ba36493a8bdf29d8aba2930aa26	De Barsy syndrome is a rare, autosomal recessive @DISEASE$ characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, @PHENOTYPICFEATURE$, and intellectual disability.	false
+8f259eed2741d098722070c605eba912f8186a8d	De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bf7d77c62b7d360a22fe0cfef9b2c17cf5649692	@DISEASE$ is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, @PHENOTYPICFEATURE$, and characteristic facies.	has_symptom
+e65143cd6dbfd9729392c6d142df80f30ddb154e	de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, @PHENOTYPICFEATURE$, @DISEASE$, and characteristic facies.	false
+20c8d93dce4461ee9a7ed0fa6552ec99b8edd1df	@DISEASE$ is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, @PHENOTYPICFEATURE$, mental retardation, and characteristic facies.	false
+f5d98bace7d00b0718b3ae34d8ff837e7684ddcb	The @DISEASE$ is an autosomal recessive syndrome of dwarfism, @PHENOTYPICFEATURE$, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing.	has_symptom
+5660cbe52372d56b430eee2b6f2a378b1b7e3137	@DISEASE$ is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, @PHENOTYPICFEATURE$ and athetoid movements.	has_symptom
+e9c15be44d979a77f4d1fa728d15d94ad2a90e2f	De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, @PHENOTYPICFEATURE$, @DISEASE$ and athetoid movements.	false
+700aab2592da0ee62d5e4a85a64277cb12b81fb9	@DISEASE$ is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, @PHENOTYPICFEATURE$, mental retardation and athetoid movements.	false
+d8397a3130963b9aefd3b606787404ed2c44f55b	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes @PHENOTYPICFEATURE$, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	has_symptom
+6b80f28857d2929b1f84b09516daab691dc8235d	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @DISEASE$, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+8a4bd383d1bc0888b5d6db6a41070b24ca45a897	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @DISEASE$, @PHENOTYPICFEATURE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+f4b6b01697c7a7c184eba9e289243076aaed9c0b	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @DISEASE$, behavioral abnormalities, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+845b97797016dd608b9f4a03ddf24108ab879344	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, @DISEASE$, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+bc79d17699197ef951383e7800903cd4d54cdfdc	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+cb52b7b9294886518df374c8a20aa7ca8dd89b71	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+e27922596b736dc2b91834f97e00dbdb389f4592	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, @DISEASE$, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+6f35b7fe0615b41ad9cc2062b9b1f3f18e01448e	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, @PHENOTYPICFEATURE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+3dba7a289e61fce42d493ff556c2a68033bd68d0	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+d8aa36fbb352d1dedeed85699ceb0f2cde938726	Brachydactyly and @PHENOTYPICFEATURE$: an @DISEASE$ localized to 2q37.	has_symptom
+1c3c55d9b3aca1fa11e4a1d04f56536332fe1592	@PHENOTYPICFEATURE$ and @DISEASE$: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.	false
+243556b3ded7a0ab8d9a2eda8ea0a61e1e542ebd	@PHENOTYPICFEATURE$ and mental retardation: an @DISEASE$ localized to 2q37.	false
+0df0398100e921c85bf01da64c010b936d96cb41	Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly @PHENOTYPICFEATURE$ (@DISEASE$) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	has_symptom
+b0c7e8731fbe4c199b09f3e6a8c1276e257df72f	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) @DISEASE$.	false
+f850f71efb144f7e70f52d0ae179996245f7fa91	Deletion of chromosome 2q37 results in a rare congenital @DISEASE$ known as @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+8382d4fcef5f8532eb62af4e03b6040ef8a67a9f	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @PHENOTYPICFEATURE$ mental retardation (BDMR) @DISEASE$; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+4a082f3b172377b86b9623a328b05c4b826a0971	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @PHENOTYPICFEATURE$ @DISEASE$ (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+748de1690de603d43f85cbc7820cf9502d759214	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to @DISEASE$ (AHO) syndrome.	false
+2daae79cc709ad711cfc601a170eb126124ed6b3	Deletion of chromosome 2q37 results in a rare congenital syndrome known as @PHENOTYPICFEATURE$ mental retardation (@DISEASE$) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome.	false
+8779b6d122d791c17734992aefcfe2e64c7bfb54	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (@DISEASE$) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	has_symptom
+dfa222ca75395c596ed33ed7f7ab0eb410053c77	Clinicians must have brachydactyly @PHENOTYPICFEATURE$ (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although @DISEASE$ syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	has_symptom
+44abb5dc0955029c4c103c1aa1c182bf0835dea6	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (@DISEASE$) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+45c2765b8243599ed6d6aa634216eff31ab3e27a	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (BDMR) @DISEASE$ in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+cb077732662b712324a4d286dd4ea680c06fd6f8	Clinicians must have @PHENOTYPICFEATURE$ @DISEASE$ (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+a103f32492a6c2cd2a01942d7d752af4cfb4e0e4	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome in consideration when they are faced with the features of @DISEASE$.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+ffa758d0348aa1265d2dda304b8d4288258ae5fd	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although @DISEASE$ syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+1ada5894a4cc55704f34856c2f6a3e3f2f0ad771	Clinicians must have @PHENOTYPICFEATURE$ mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR @DISEASE$ is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.	false
+5b7248d81c455a3ec72c9fff7026cf35d8ebc48b	Developmental delay, @PHENOTYPICFEATURE$, autistic spectrum disorders, @DISEASE$ syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome.	has_symptom
+90fefc3c2c8f5ac54429b8ebb336333e85431aea	Citrullinemia or @DISEASE$ in its classical form presents in the neonatal period with poor feeding, hyperammonemia, encephalopathy, @PHENOTYPICFEATURE$, and if untreated can be fatal.	has_symptom
+960b6495278b7336b3d13e4594de09be3f40411d	Citrullinemia or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, @DISEASE$, and if untreated can be fatal.	false
+7a9caa91eeca0b37214d1feb78cb591dedc254f0	Citrullinemia or @DISEASE$ in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, seizures, and if untreated can be fatal.	false
+16e272ca62020e0ed44f5c3b3d871b08ec3014bf	@DISEASE$ or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, seizures, and if untreated can be fatal.	false
+bc80167c516bd1ec802c84dda0358bf161ece78b	Electroclinical features of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+5a6eb74767920f1f133995fa0e2f2e16ac1fbfe8	@DISEASE$ (CAE) is defined by @PHENOTYPICFEATURE$ in a normally developing child, with onset between 4 and 10 years of age.(1)	has_symptom
+d12b6ef480726b2fe30dfbbde7410853d9099081	Unless there are compelling adverse effect-related concerns, ethosuximide or valproic acid should be considered before LTG to decrease seizure frequency in treating @PHENOTYPICFEATURE$ in @DISEASE$ (level B).	has_symptom
+b67981fafd94829ccc1cc146bfe2f5be12f82e25	Unless there are compelling adverse effect-related concerns, ethosuximide or valproic acid should be considered before LTG to decrease @PHENOTYPICFEATURE$ frequency in treating absence seizures in @DISEASE$ (level B).	false
+27c23d31b21031770f42eb628c5909de3a44eaa1	Unless there are compelling adverse effect-related concerns, ethosuximide or valproic acid should be considered before LTG to decrease @PHENOTYPICFEATURE$ frequency in treating @DISEASE$ in childhood absence epilepsy (level B).	false
+e6c933956016ecef71a86a63caf16d0b0b42f5bd	In this prospective clinical study, the effects on cognitive functioning of @PHENOTYPICFEATURE$, epileptiform EEG discharges, and their abolishment by antiepileptic medication were evaluated in patients newly diagnosed with @DISEASE$ or juvenile absence epilepsy.	has_symptom
+333d3cdc4f4d649772f294500a65def3338f54b1	The underlying neuronal pathways and cellular mechanisms of the generalized @PHENOTYPICFEATURE$ of @DISEASE$ are well delineated.	has_symptom
+212a76ea709a5d5ff6f4c4b9aa0f452814a498a8	Individuals fulfilling diagnostic criteria for @DISEASE$ (CAE) and juvenile absence epilepsy (JAE) were selected from a large group of patients who were born between 1945 and 1973 and had presented with @PHENOTYPICFEATURE$ (AS).	has_symptom
+63ed21d365043fda214a907148bf3b663ab8a12e	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have @DISEASE$ and @PHENOTYPICFEATURE$ compared with children without febrile seizures.	has_symptom
+f072b43a0cae5a2c1b9f9b27f7022178cab1dcda	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have @DISEASE$ and absence seizures compared with children without @PHENOTYPICFEATURE$.	false
+5074621ebb742b5b9b1fcde47c2d219cd4b35ad0	Children with @PHENOTYPICFEATURE$ were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have childhood absence epilepsy and @DISEASE$ compared with children without febrile seizures.	false
+dda92cd3558b198af9dde8018bb27f4a9a87d029	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with @PHENOTYPICFEATURE$ and less likely to have childhood absence epilepsy and @DISEASE$ compared with children without febrile seizures.	false
+20c9be04d10b2973bf0eb8cfc54c19063e49ffa8	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have childhood absence epilepsy and @DISEASE$ compared with children without @PHENOTYPICFEATURE$.	false
+b6c0b540ec4cf8029cd26636f456848492e2ad62	Children with @PHENOTYPICFEATURE$ were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have @DISEASE$ and absence seizures compared with children without febrile seizures.	false
+d705920ba249e43a2eb483c143f6695c00317c95	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with @PHENOTYPICFEATURE$ and less likely to have @DISEASE$ and absence seizures compared with children without febrile seizures.	false
+600c67b0c115f5c687de3ce116dc8bc96857f96d	@DISEASE$ (CAE) is a well-defined generalized epilepsy syndrome clinically characterized by frequent @PHENOTYPICFEATURE$.	has_symptom
+ca33d1107fdc5e6f5a563880d5796a395042c246	@DISEASE$ (CAE) is an idiopathic generalised epilepsy characterised by @PHENOTYPICFEATURE$ manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG.	has_symptom
+10fb702b0d7b8a2a6ba54327007c5b844e019db2	Open-label trials show its efficacy against generalised seizures, especially @PHENOTYPICFEATURE$ of @DISEASE$ and generalised seizures of juvenile myoclonic epilepsy.	has_symptom
+7980c4ac86ea876dafce8c44f2ffc854e6baf3dd	Open-label trials show its efficacy against generalised seizures, especially @DISEASE$ of childhood absence epilepsy and generalised seizures of juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+75c35bdbb7286fb7b8563d957f602c7ead8db0f5	Open-label trials show its efficacy against @PHENOTYPICFEATURE$, especially absence seizures of @DISEASE$ and generalised seizures of juvenile myoclonic epilepsy.	false
+0c61c2acdc6bacc5828bed62c54dfbb47358d425	Open-label trials show its efficacy against generalised seizures, especially absence seizures of @DISEASE$ and @PHENOTYPICFEATURE$ of juvenile myoclonic epilepsy.	false
+754efa1bba735ea502bad8a6b02b9474feb1af32	Open-label trials show its efficacy against generalised seizures, especially @DISEASE$ of childhood absence epilepsy and @PHENOTYPICFEATURE$ of juvenile myoclonic epilepsy.	false
+6d205b822e17ff7318f1ab59c8f45901022e1a06	Open-label trials show its efficacy against generalised seizures, especially absence seizures of @DISEASE$ and generalised seizures of juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+334ffbaa9df0bc32e639630fa9c55f7a93920b34	Open-label trials show its efficacy against @PHENOTYPICFEATURE$, especially @DISEASE$ of childhood absence epilepsy and generalised seizures of juvenile myoclonic epilepsy.	false
+3a6422e7440ea508c00f2e0a129358315457d38a	Since @DISEASE$ patients exhibit peripheral neuropathy, neuronal @PHENOTYPICFEATURE$, rigidity, dysphagia, and laryngeal dystonia, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	has_symptom
+f740132569479735ba4c4850800ed86564524a9f	Since XPA patients exhibit @PHENOTYPICFEATURE$, neuronal @DISEASE$, rigidity, dysphagia, and laryngeal dystonia, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	false
+2052cb672f2ab506028468ef8e89b5bd1556a358	Since XPA patients exhibit @PHENOTYPICFEATURE$, neuronal deafness, rigidity, dysphagia, and @DISEASE$, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	false
+d056b55566157be7794ebe21de1986d1889e6229	Since @DISEASE$ patients exhibit @PHENOTYPICFEATURE$, neuronal deafness, rigidity, dysphagia, and laryngeal dystonia, it is indispensable for investigation of the neurodegeneration to analyze brainstem and basal ganglia lesions clinically and pathologically; we have previously shown the role of oxidative stress in the development of basal ganglia lesions.	false
+234a98502d92df499504d0f039b72ea0e19a4493	@DISEASE$ (Bosma syndrome)(OMIM 603457) is a congenital condition characterized by @PHENOTYPICFEATURE$ with coloboma, arhinia and endocrine findings in the setting of normal intelligence and brain structure.	has_symptom
+1638b1a4be56872e82b000020d0a2db84f0ca61a	She was subsequently treated with prednisone and intermittent cyclophosphamide for six years, and severe @DISEASE$ associated with @PHENOTYPICFEATURE$ developed; disease remained active and serum DNA binding high.	has_symptom
+690eac3b28abc293b87919ad293b71bce348c5a9	Mutations in the SEPSECS gene, leading to deficiency in selenoprotein biosynthesis, have been identified in recent times as the molecular etiology of different pre/perinatal onset neurological phenotypes, including cerebello-@PHENOTYPICFEATURE$, @DISEASE$ and progressive encephalopathy with elevated lactate.	has_symptom
+d2a639399a33e21c029adcff62ac0b793b7b9040	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, spasticity, @PHENOTYPICFEATURE$, and posterior column sensory loss.	has_symptom
+d4453c95e0f94ecdd1e179721ae08ee8e796d33c	Behr syndrome is characterized by optic atrophy beginning in early childhood associated with ataxia, @PHENOTYPICFEATURE$, @DISEASE$, and posterior column sensory loss.	false
+47317f115bce3627d357ab72e1c18481cfa72e70	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss.	false
+56ff38ed6dd32cd9ddd0ce6904a606dbb926251b	Behr syndrome is characterized by optic atrophy beginning in early childhood associated with @PHENOTYPICFEATURE$, spasticity, @DISEASE$, and posterior column sensory loss.	false
+11497bb53442aa9be0ce0f86f53ec69e5f957aa5	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, @PHENOTYPICFEATURE$, mental retardation, and posterior column sensory loss.	false
+3d379e6590c7984fa635e7ed6f922b6d08ef5317	Behr syndrome is characterized by @PHENOTYPICFEATURE$ beginning in early childhood associated with ataxia, spasticity, @DISEASE$, and posterior column sensory loss.	false
+c03ac16b05967019f3bfe0c0c5b85791c6910944	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with @PHENOTYPICFEATURE$, spasticity, mental retardation, and posterior column sensory loss.	false
+293c54fdc52db40ca764ffb1881946fb64c7a58c	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and @PHENOTYPICFEATURE$.	has_symptom
+050e8c04bbc32dc20b7cd16ba8a355dc42b57110	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, @PHENOTYPICFEATURE$ and mental retardation.	false
+337c26877b926ac9b7566bfaa2c3dc786df6866a	Behr syndrome is characterized by the association of early onset @PHENOTYPICFEATURE$, cerebellar ataxia, pyramidal signs, peripheral neuropathy and @DISEASE$.	false
+c340ab90177bfe1586abba8587819b27a2f2a98d	Behr syndrome is characterized by the association of early onset optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs, peripheral neuropathy and @DISEASE$.	false
+dec546df71d766ab04d4c0e9ea06a715b2884fae	@DISEASE$ is characterized by the association of early onset optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs, peripheral neuropathy and mental retardation.	false
+d3f7fc913dd68e57b4e49648330a211912dd8ae8	Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a82abf2c9074e0db5c7f80dab5dde333cc917235	@DISEASE$ is characterized by the association of early onset @PHENOTYPICFEATURE$, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation.	false
+894effa1051100ee1e56be8f3f8d0b3cbea83b4a	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+39b42584105730fd49a9c494e7bc296d443e7cbd	Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @PHENOTYPICFEATURE$, ataxia, pyramidal signs and @DISEASE$.	false
+5079f2c10723a5a9b199ada7773b52601234a4a1	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs and mental retardation.	false
+cd6dafe1daf66cfdb131610cdc6bd12b049a30fd	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @PHENOTYPICFEATURE$, ataxia, pyramidal signs and mental retardation.	false
+2f05f626cb92eb69954f54040a70beb9c4b14494	Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs and @DISEASE$.	false
+12c84568236b42d2c076d17b34a432122bd0dc22	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	has_symptom
+85c84e4c07eb4971f9a1d01b213879f5bfaa04ea	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	has_symptom
+3b3dafeb0d8ea28b408fee1af63186d973d969cd	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	has_symptom
+6549bee2803056591a980babe4c5b5711a20a288	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+52519f93c1c960013674f92d810b3dc3bd7b5259	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+80a00b1bd0c06472733044e43d9766ca242db6d4	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+fb1a75693ebec5cbf237162cce85be4d50b3965b	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+546866a2a3e5e0edf2f0fcc8d2f6d0f1c3b6f6a9	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @DISEASE$, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+64929ed95a71cdaf6a4c159ad466ea75ee448378	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @DISEASE$, thumb hypoplasia, and microphthalmia.	false
+ccba03eab83d057823e4032565436b88e58ebe51	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @DISEASE$, thumb hypoplasia, and microphthalmia.	false
+37880626aa5e0ff67d1e087fd02ea8d388de8703	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+39e1771bdfd28bfb9f7266f4077601f78aaa1661	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+acc7a4dcede2a6bf2cd189be608b460a8238f4d1	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+96e0f26bc1a3364419aea3622835a203cdd3ec3a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+694859f01ac0f07a8153ce326df3b6f03c50324a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+ff8f0a1144d359ee26eda79971e875d441a52b2f	Initially described in 1972, @DISEASE$ (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, @PHENOTYPICFEATURE$, and other anomalies.	has_symptom
+4a9c298aee371857106e0b5d424a35ebf52b3aaa	Initially described in 1972, @DISEASE$ (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, @PHENOTYPICFEATURE$, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies.	false
+e272c2f38046095423ccb3545544fecafbc8ccd1	Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, @PHENOTYPICFEATURE$, @DISEASE$, filiform bands between the jaws, syndactyly, and other anomalies.	false
+ebc173ff18326823c4e2fdbeb8e5c1ab06a149bb	Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, @PHENOTYPICFEATURE$, cleft lip and palate, filiform bands between the jaws, @DISEASE$, and other anomalies.	false
+6a7e9a6fa085b14eb28bb22536cb2df705b624dd	Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an @DISEASE$ combining multiple pterygia, @PHENOTYPICFEATURE$, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies.	false
+71d70564a5a3c63f658f0db22afd7aa7a8a2e744	@DISEASE$ (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe growth retardation, midface hypoplasia, popliteal pterygia, and @PHENOTYPICFEATURE$.	has_symptom
+7015462bae9cc2defd087c72cba179d7adcdc0d9	Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe @PHENOTYPICFEATURE$, midface hypoplasia, popliteal pterygia, and @DISEASE$.	false
+5ccbb7b9befa13e66168fa86a1d35d5885a6de97	Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe @PHENOTYPICFEATURE$, midface hypoplasia, popliteal @DISEASE$, and syndactyly.	false
+348468c5ca2cbc7a935615c5d0a4bc198779f7a9	@DISEASE$ (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe @PHENOTYPICFEATURE$, midface hypoplasia, popliteal pterygia, and syndactyly.	false
+4bb0565d79881994bc0b8c0f0b75fdfed410ec8e	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	has_symptom
+7dfb99c93c2582f0839c686eafcaac0d040385d0	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, @DISEASE$, and other ectodermal anomalies.	false
+cc8d5e89a241e0274623643d82b17615714512b2	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+c4b79c2d0d480c46572f1ee69d9e29f1e66ab96f	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+5ae09d8b0b473f29fced6c11dce34dd326eb1b53	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, @DISEASE$, and other ectodermal anomalies.	false
+ba15f1f8332cfee586fdf0bbf12dcd7ba99c72a6	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+14c42736a79a7a8b5d40fe1e846ed7dc754fd24f	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, @DISEASE$, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	false
+98d36c18e252ceb2fcccfdb733a4e00e505a2670	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+a7653506c64b66be07fbc0a32129b70d1f56586d	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, @DISEASE$, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+21ef7d55d096585039e6a4a0799d21d2dd30d63a	The conditions of a young woman and a boy with @DISEASE$ (KSS) deteriorated abruptly; they died despite pacemaker control of complete heart block (case 1) and without evidence of @PHENOTYPICFEATURE$ or asystole.	has_symptom
+49072cf4e4c6f1df7f97e79730edb5fd692081fd	Morphological studies in a 26-year-old man with long-standing @DISEASE$, with @PHENOTYPICFEATURE$ and a fatal congestive cardiomyopathy, revealed a mitochondrial myopathy of both skeletal and myocardial muscle (H?bner et al. 1986).	has_symptom
+ff4e37811ce246597d4ea2cc493a16b60cba3b48	It seems important to study anti-thyroid antibodies in every case of @DISEASE$, specially if @PHENOTYPICFEATURE$ are present.	has_symptom
+b9fafe8a579c97334708ac40085ab009662a821a	Mutations explaining GSD Ia and @DISEASE$ were found but no specific causative mutation for @PHENOTYPICFEATURE$ and ONHD.	has_symptom
+cac4d54912492914ae4496331d813418d2f16a26	We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), @DISEASE$ (DGS), @PHENOTYPICFEATURE$ and optic nerve head drusen (ONHD).	has_symptom
+9838a07c7bfe1530e9fe7464026d045b46020216	We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (@DISEASE$), @PHENOTYPICFEATURE$ and optic nerve head drusen (ONHD).	has_symptom
+33d2f2cfed0642e8c094994ea14c0ec7f786f1c7	Although the presence of @PHENOTYPICFEATURE$ and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to @DISEASE$ could be the common biochemical pathway.	has_symptom
+943197d887463c0e53bc852654ca9dafd2a32aa4	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	has_symptom
+14784dc7455e2b896737622d83cc1aec75008b89	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @PHENOTYPICFEATURE$, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+2d42928e13c2c09127ba686ea2f266bda7dbcfbc	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+8f55aa5963661af668df1ed077df7bdb0ab5b36f	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital @DISEASE$, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	false
+63fb9a92da98f8acd6135c30a9e8048a989c2736	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @DISEASE$, mental retardation, congenital cataracts, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	false
+2225074c16d469f63b3039852a17da7c5ce60658	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+d5466cf78735fad04e1189af48948e01d6a3f3a4	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	false
+bb58a0c22e373528aeddeb39e8cf3afa3297069a	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @DISEASE$, mental retardation, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+2cae15f393621832d15a0d9997035beb7ee86b55	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+8633d6498e1409eab7440e7f52ff686cfffd3907	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+142f294f69a37ec88ea518e6f0d7dbb261ad80e3	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @PHENOTYPICFEATURE$, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+6690d1369914708c8d0ac6cd51096e9923e11a2b	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @DISEASE$, @PHENOTYPICFEATURE$, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+baea1ba77b55569d39c7479c7ea832f0e3ae45e3	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+25a6f7c202ee1d15b45cdf7518bab9d15cca9467	A 3-year-old girl with @DISEASE$ (RCDP) had severe @PHENOTYPICFEATURE$ but a normal gyral pattern, neuronal density, and cortical cytoarchitecture.	has_symptom
+c45ae973a22c66dd4eb6e81115a796d19b5600cc	She had @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, delayed motor and mental development, and spastic quadriplegia.	has_symptom
+f8ae5e58f66e62b6fa9fcf1196cf74575a933446	She had @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, delayed motor and mental development, and spastic quadriplegia.	false
+66f11120052f6308e97389fce32c8a041d4c590c	She had rhizomelic chondrodysplasia punctata, microcephaly, @PHENOTYPICFEATURE$, delayed motor and mental development, and @DISEASE$.	false
+b9c70aeb2c010d42e7f67544627edecc3667f1b7	She had rhizomelic chondrodysplasia punctata, @DISEASE$, @PHENOTYPICFEATURE$, delayed motor and mental development, and spastic quadriplegia.	false
+259e3ae9552c0da7489f6ae59d97b99a6645c2e1	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, @PHENOTYPICFEATURE$, and severe psychomotor defects.	has_symptom
+13a40b588f26b937265571f33475a88947f524ce	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, @PHENOTYPICFEATURE$, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+27cf8e70724a17200b4a6d5c5808ac9162941c0c	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, @PHENOTYPICFEATURE$ causing disproportionate somatic growth failure, @DISEASE$, and severe psychomotor defects.	false
+4347b37037f50bfa7f35b297f236bd5bbd17ba1f	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, @PHENOTYPICFEATURE$, skeletal dysplasia causing disproportionate somatic growth failure, @DISEASE$, and severe psychomotor defects.	false
+1ac4ce4f9c6dd3558478fe20b7ece08404e3f2c0	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic @PHENOTYPICFEATURE$, microcephaly, and severe psychomotor defects.	false
+e77a3305812082c2c58fb8d7f73cc7df98a31b59	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, @PHENOTYPICFEATURE$ causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+366078490e3f83d0e24aa2c9997da7987224ee34	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic @PHENOTYPICFEATURE$, @DISEASE$, and severe psychomotor defects.	false
+67506618cc668917766449e6aa8dc964e00a52b2	@DISEASE$ is an autosomal recessive disorder, which is associated with chronic @PHENOTYPICFEATURE$, a characteristic facial appearance, mental retardation, and recurrent infections.	has_symptom
+97dc0f52c6fbf2ef1de61a35ea6041a51eba2b02	Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic @DISEASE$, a characteristic facial appearance, @PHENOTYPICFEATURE$, and recurrent infections.	false
+c2b887fa9dc7e8f9ae076f55459472037904383a	@DISEASE$ is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, @PHENOTYPICFEATURE$, and recurrent infections.	false
+e01d61f5e8ca8e27a63910d055bf80a983f82b83	@DISEASE$ is a rare inherited connective tissue disorder characterised by intractable @PHENOTYPICFEATURE$, lymphoedema, recurrent infections and mild intellectual impairment.	has_symptom
+532bb9ebb0f966a19c8c207e12ef289b4b6b971f	@DISEASE$ is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild @PHENOTYPICFEATURE$.	false
+b20247024fe8e559001d9044180e84a883bc53ac	Prolidase deficiency is a rare inherited connective tissue disorder characterised by intractable @DISEASE$, lymphoedema, recurrent infections and mild @PHENOTYPICFEATURE$.	false
+f6b92ff01f1c4ae265b0a0630df99ad9a28faf45	Prolidase deficiency is a rare inherited @DISEASE$ characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild @PHENOTYPICFEATURE$.	false
+5ec49bd695269d18e8ff2e0349983275f8c04976	Mutations impairing prolidase activity lead in humans to the rare disease @DISEASE$ characterized by severe @PHENOTYPICFEATURE$ and mental impairment.	has_symptom
+58b00ee0cefd81497c484835250a125fb2bb2b75	Mutations impairing prolidase activity lead in humans to the rare disease @DISEASE$ characterized by severe skin ulcers and @PHENOTYPICFEATURE$.	false
+ff13d0c47f9b8c92522ea6db726d9a30df3e6f70	Mutations impairing prolidase activity lead in humans to the rare disease prolidase deficiency characterized by severe @DISEASE$ and @PHENOTYPICFEATURE$.	false
+515b24ac6785e950a01889e7981f116a539f4e27	Yet, for most LSDs, including @DISEASE$ disease, the most common form of childhood @PHENOTYPICFEATURE$, it is unclear what mechanisms drive neurologic symptoms.	has_symptom
+ab266a051d7df2408cd19a3eda2afe125f16fb8b	Statistical tests show a very high degree of bilateral symmetry in the extent and progression of @PHENOTYPICFEATURE$ in the fellow eyes of @DISEASE$ patients.	has_symptom
+3cf77c29a0dcacc98faeccd4a0e8b4bbdd85840e	Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (@DISEASE$), color @PHENOTYPICFEATURE$, Stargardt disease (STGD) and other maculopathies.	has_symptom
+1e2ba6f4daa9d2f41eb6ab2daeecaff7a967a476	To investigate bilateral symmetry of @PHENOTYPICFEATURE$ in cone-rod dystrophy (@DISEASE$) patients and understand the feasibility of clinical trial designs treating one eye and using the untreated eye as an internal control.	has_symptom
+c26858d79ed57b0f2d845904654f28d578268109	@DISEASE$ (LD) is a fatal autosomal recessive epilepsy characterized by stimuli sensitive myoclonus, @PHENOTYPICFEATURE$, and progressive intellectual and neurological deterioration.	has_symptom
+6684c60191b0e9fe4d47c63fc7e79b481f13f0d9	The main symptoms of @DISEASE$, which worsen progressively, are: myoclonus, occipital seizures, @PHENOTYPICFEATURE$, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome.	has_symptom
+a54066e3a137a7e8cb1b3a76e0ad88fdcbad6089	The main symptoms of @DISEASE$, which worsen progressively, are: myoclonus, occipital @PHENOTYPICFEATURE$, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome.	false
+5ef56669844ed6aea7e9538dfeb130a5ba6c3bb3	The main symptoms of Lafora disease, which worsen progressively, are: myoclonus, occipital seizures, @DISEASE$, cognitive decline, neuropsychiatric syptoms and @PHENOTYPICFEATURE$ with a fatal outcome.	false
+0b866c57ba3d3e6f07033479b004d48f3b155d79	The main symptoms of @DISEASE$, which worsen progressively, are: myoclonus, occipital seizures, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and @PHENOTYPICFEATURE$ with a fatal outcome.	false
+ab9ef86ee96ae56b805ef33f1bae59b2c73ebcbd	The main symptoms of Lafora disease, which worsen progressively, are: myoclonus, occipital @PHENOTYPICFEATURE$, @DISEASE$, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome.	false
+574462d7f70cb5baf362ced60d7428735e4e5cea	@DISEASE$ (LD, OMIM 254780) is a rare fatal neurodegenerative disorder that usually occurs during childhood with @PHENOTYPICFEATURE$, myoclonus, absences, drop attacks, or visual seizures.	has_symptom
+695f8d59e1d93dde6aae71cc2b7c72195e7635c0	Lafora disease (LD, OMIM 254780) is a rare fatal neurodegenerative disorder that usually occurs during childhood with @DISEASE$, myoclonus, absences, drop attacks, or visual @PHENOTYPICFEATURE$.	false
+4a1a264fd8596ee7cda7c7dc521b37c398f04619	@DISEASE$ (LD, OMIM 254780) is a rare fatal neurodegenerative disorder that usually occurs during childhood with generalized tonic-clonic seizures, myoclonus, absences, drop attacks, or visual @PHENOTYPICFEATURE$.	false
+49610afeb98b3eeae731eff2faa7cf1110e21d46	We propose that their clinical picture is consistent with @DISEASE$ (retinitis pigmentosa, @PHENOTYPICFEATURE$, nephronophthisis, and skeletal dysplasia) and that they represent the first instance of a familial occurrence of this syndrome.	has_symptom
+9d8f15dbff387d14f540fcd123cc6025b752ee3a	We propose that their clinical picture is consistent with @DISEASE$ (retinitis pigmentosa, hypopituitarism, nephronophthisis, and @PHENOTYPICFEATURE$) and that they represent the first instance of a familial occurrence of this syndrome.	false
+a3f28b1448d2dee0a0f5097e2790f8998359a538	We propose that their clinical picture is consistent with RHYNS syndrome (retinitis pigmentosa, @DISEASE$, nephronophthisis, and @PHENOTYPICFEATURE$) and that they represent the first instance of a familial occurrence of this syndrome.	false
+e327b1f3f5237b4f03b3d5cf4d463e1300f9f251	We propose that their clinical picture is consistent with RHYNS syndrome (@DISEASE$, hypopituitarism, nephronophthisis, and @PHENOTYPICFEATURE$) and that they represent the first instance of a familial occurrence of this syndrome.	false
+f9591f23157d0694d0953f3f5800987569fccee0	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including @PHENOTYPICFEATURE$, seizures, autism, and psychiatric conditions.	has_symptom
+38aa85936f518f5ed53dbbb1cd258ca952e624da	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, @PHENOTYPICFEATURE$, autism, and psychiatric conditions.	false
+55457b454a26d1bc2757551670432e5c63fa18bf	The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including @DISEASE$, @PHENOTYPICFEATURE$, autism, and psychiatric conditions.	false
+7722a162670d8195605be7f54dd21e7f6ff673dd	The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including @DISEASE$, seizures, @PHENOTYPICFEATURE$, and psychiatric conditions.	false
+c45baf46fdc5365a484f391195136cde15fb4dac	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, @PHENOTYPICFEATURE$, and psychiatric conditions.	false
+0358ac38e823811f1a898c0e516e809dc5b47cd9	A 31-year-old patient with @DISEASE$ who had previous cholecystectomy developed acute onset of jaundice and @PHENOTYPICFEATURE$.	has_symptom
+ad0fd156b1d524f007c47bdf18d3ed436bc9f604	Twenty-one studies addressed treatments for headache (including migraine); seven for @PHENOTYPICFEATURE$; four included mixed pain conditions including headache pain, two for fibromyalgia, two for pain associated with @DISEASE$, and one for juvenile idiopathic arthritis.	has_symptom
+c94aae47f09dc47c5e0e24ba7c93d6acc63f98d8	Patients with @DISEASE$ (SCD) often present with @PHENOTYPICFEATURE$, usually attributable to vasoocclusion.	has_symptom
+dc51ec22cf11a754c7cfcaeff83818351a7450e9	Patients with @DISEASE$ (SCD) often present with @PHENOTYPICFEATURE$, usually attributed to vaso-occlusive crisis, but not rarely, it may be caused by other surgical conditions.	has_symptom
+57040c310cace602d23f90931475eb3e616f6f37	We encourage others to consider pancreatitis as a cause for @PHENOTYPICFEATURE$ in children with multisystem diseases, particularly those that may cause ischemic organ injury such as @DISEASE$.	has_symptom
+919c967c7da7877d37286cd214426541f4d8f6d8	Although great variability in depressive symptoms was found across children with the same disorder, children with certain disorders (e.g., asthma, recurrent @PHENOTYPICFEATURE$, @DISEASE$) may be at greater risk than children with other disorders (e.g., cancer, cystic fibrosis, diabetes mellitus).	has_symptom
+3f47b96dfa70e14264a15435195d9e49470ab682	Children with @DISEASE$, well known to have a high incidence of cholelithiasis, are frequently admitted to the hospital for episodes of @PHENOTYPICFEATURE$.	has_symptom
+d10e89eed180ae9f94dfb8be89f1f65da03d9895	Spontaneous biloma and pneumobilia developed in a patient with @DISEASE$ (SCD) who presented with acute @PHENOTYPICFEATURE$, jaundice, and fever.	has_symptom
+fdb685d57c9d5b9c3b6791e47e90636250966083	The patients with congenital disorders of the oblique muscles and with congenital elevation deficiencies other than Brown syndrome had relatives with @PHENOTYPICFEATURE$, infantile esotropia, @DISEASE$, congenital abduction deficiency, and unspecified forms of strabismus.	has_symptom
+a42590a316c0cf681abfa6178176bbc784ea2265	Ophthalmic findings were present in 3 of the 4 siblings with ECEL1-related distal arthrogryposis: bilateral ptosis with bilateral congenital fibrosis of the extraocular muscles, right @PHENOTYPICFEATURE$ with ipsilateral Y exotropia (exotropia increasing in upgaze), and right ptosis with ipsilateral @DISEASE$.	has_symptom
+b3a171bb3a7b85644955283dbe2b5ce20bdae92a	Ophthalmic findings were present in 3 of the 4 siblings with ECEL1-related distal arthrogryposis: bilateral ptosis with bilateral congenital fibrosis of the extraocular muscles, right ptosis with ipsilateral Y exotropia (exotropia increasing in upgaze), and right @PHENOTYPICFEATURE$ with ipsilateral @DISEASE$.	has_symptom
+aac33210b5451128933996f992b67d494a7523f8	Neurogenic forms of ptosis are: Cortical ptosis, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, @PHENOTYPICFEATURE$ in aberrant third nerve regeneration, sympathetic ptosis (Horner-syndrome), ptosis in cases of paradoxic innervation such as the @DISEASE$ and the Marcus-Gunn-Jaw-Winking-syndrome (ptosis linked with jaw movement).	has_symptom
+1d8d32ccfa27e4deb013fe095293b5bf94bab141	Neurogenic forms of ptosis are: Cortical ptosis, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, ptosis in aberrant third nerve regeneration, sympathetic ptosis (Horner-syndrome), @PHENOTYPICFEATURE$ in cases of paradoxic innervation such as the @DISEASE$ and the Marcus-Gunn-Jaw-Winking-syndrome (ptosis linked with jaw movement).	has_symptom
+12894bcc78636a65c891a53d98c237285380b800	Neurogenic forms of ptosis are: Cortical @PHENOTYPICFEATURE$, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, ptosis in aberrant third nerve regeneration, sympathetic ptosis (Horner-syndrome), ptosis in cases of paradoxic innervation such as the @DISEASE$ and the Marcus-Gunn-Jaw-Winking-syndrome (ptosis linked with jaw movement).	has_symptom
+4c6504002d6573d739a4d22488f15807641dfe00	Neurogenic forms of ptosis are: Cortical ptosis, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, ptosis in aberrant third nerve regeneration, sympathetic @PHENOTYPICFEATURE$ (Horner-syndrome), ptosis in cases of paradoxic innervation such as the @DISEASE$ and the Marcus-Gunn-Jaw-Winking-syndrome (ptosis linked with jaw movement).	has_symptom
+d5470973e9e31d13425e2986fc8fc6729752652b	In addition to duction limitation and/or @PHENOTYPICFEATURE$, orbital CCDD phenotypes include inappropriate extraocular muscle and/or levator innervation by nerves intended for innervation of other structures (eg, some of the innervation intended for the medial rectus muscle inappropriately innervating the ipsilateral lateral rectus muscle in @DISEASE$).	has_symptom
+61cf480500528544b05170c3e92eb904ba76738b	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and @PHENOTYPICFEATURE$ as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with @DISEASE$ who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.	has_symptom
+4f13fc84fd39cc112c8db23bd26b4b03e577acf1	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial @PHENOTYPICFEATURE$ comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with @DISEASE$ who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.	has_symptom
+800b3c2503ec33df168b5c278d7bbaef4639526a	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as @DISEASE$ (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of @PHENOTYPICFEATURE$, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.	false
+8481ae58aa5ddca3d9026f5ad05492390800b81c	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial @DISEASE$ comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of @PHENOTYPICFEATURE$, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.	false
+118e78679d6b97233343f54b6a07caf3c7ed1870	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of @PHENOTYPICFEATURE$, a patient with @DISEASE$ who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.	false
+b472bca2b78d84d7b2a79b7b11209b48ccfd928b	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of @PHENOTYPICFEATURE$, a patient with Duane retraction syndrome who presented congenital skin and @DISEASE$, and a girl with HS who showed a history of congenital imperforate hymen.	false
+78ab927a83d11881739ad7320453f94387dc6f84	Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and @DISEASE$ as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of @PHENOTYPICFEATURE$, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen.	false
+6ab0942a6cb626a74976f0b4d59ac20bf40f5180	There are ocular diseases which diagnosis is straightforward for general practitioner, pediatricians or pediatric surgeons (horizontal nystagmus, lateral rectus paralysis, @PHENOTYPICFEATURE$, esotropia), but others less obvious (superior oblique paralysis, @DISEASE$, A and V-pattern strabismus, torsional nystagmus) because of the compensatory head posture, and these last disorders are predisposed to confusion with congenital AHP Interdisciplinary collaboration between ophthalmologist, pediatrician, pediatric surgeon, ENT specialist and neurologist is mandatory in establishing the etiology of AHP Every child with AHP must be examined by an ophthalmologist.	has_symptom
+09105cda61f06f2bea7cbc42e547461bd23358f2	Patients with Brown syndrome confirmed by forced ductions were included in the study if the Brown syndrome was associated with either an abnormal development of the superior oblique muscle or superior oblique paresis, @PHENOTYPICFEATURE$, @DISEASE$, or other known CCDDs.	has_symptom
+d69ee300b1fd0879fcb8a528e40ad01e118ea8cb	Effects on neural conduction, resulting in increased ABR interwave latencies, are found in vestibular schwannomas, Bell's palsy, @DISEASE$, Marcus Gunn @PHENOTYPICFEATURE$, and various encephalomyopathies.	has_symptom
+26f7f9fb1231ae5f0fb063b6f4ed60b9542e5286	This case describes the novel coexistence of sporadic blepharophimosis-@PHENOTYPICFEATURE$-epicanthus inversus syndrome (BPES) and bilateral type I @DISEASE$ in a female infant, with a FOXL2 mutation.	has_symptom
+95baca76bc3fd847c3aa3f93c8ddef29c4f22308	@DISEASE$ (LEMS) is characterized by fluctuating muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+b4840e6d71eb7c2fdb43ae32735e7ea94c9c8513	@DISEASE$ (LEMS) is an autoimmune disorder, in which antibodies against voltage-gated calcium channels located at nerve terminals cause muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+4bc0a2021b25ca3650436af8361fdb55e35ff8e2	Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder, in which antibodies against voltage-gated calcium channels located at nerve terminals cause @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2d3da21ea834dd03fffd07f913774f9cf70e8a3b	@DISEASE$ (LEMS) is an autoimmune disorder, in which antibodies against voltage-gated calcium channels located at nerve terminals cause @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+52c39f4f2157b3b887218690fbfb358f58581e73	Lambert-Eaton myasthenic syndrome (LEMS) is an @DISEASE$, in which antibodies against voltage-gated calcium channels located at nerve terminals cause @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+bf04eb0b5b1500346ed217abf85e6d140edf564b	In @DISEASE$ (LEMS), antibodies against presynaptic voltage-gated calcium channels reduce the quantal release of acetylcholine, causing muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+21906463000c88f9e8cde4c7419b6fb0275d706c	In Lambert-Eaton myasthenic syndrome (LEMS), antibodies against presynaptic voltage-gated calcium channels reduce the quantal release of acetylcholine, causing @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d47401115dbe8b5255a1fa10591eb8abb777fac1	In @DISEASE$ (LEMS), antibodies against presynaptic voltage-gated calcium channels reduce the quantal release of acetylcholine, causing @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+69ff53ba6009e0ad53392151323b4d0cae29048c	@DISEASE$ is a rare autoimmune neuromuscular and autonomic disease that produces fluctuating muscle weakness, hyporeflexia, and @PHENOTYPICFEATURE$, and often is associated with small-cell lung cancer.	has_symptom
+1b34ae03d1a5a955f9b5e252da522b011ef7a9b2	The clinical features of patients with @DISEASE$ are muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+1814967a3f7fe1eda81144db4f7e23ecaabca08f	The clinical features of patients with @DISEASE$ are @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+a5e832de07a28ed4d140ed606ce8fb9e681a1dd2	The clinical features of patients with LEMS are @PHENOTYPICFEATURE$ and @DISEASE$.	false
+31620f37797dfc6c826c3b3b0b8a5ef061a7e436	@DISEASE$: a new dominant condition with goniodysgenesis, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+ec0381b5930cfd53f443b9f465b230bee0d330e3	GMS syndrome: a new dominant condition with goniodysgenesis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a4d5197c144cbb8c57011c3a9130639f7179b3e9	@DISEASE$: a new dominant condition with goniodysgenesis, @PHENOTYPICFEATURE$, and short stature.	false
+2c9d8ef562036a168df7b1d9b06404fa2ce1f421	In 2 patients the @DISEASE$ was associated with @PHENOTYPICFEATURE$ Dysmorphia (CD).	has_symptom
+d4583ba3e37e1c911ef1311fc3bb83e3978b55cb	Mutation accumulation in @DISEASE$ deficient mice is accelerated and increased, resulting in an increased @PHENOTYPICFEATURE$ incidence.	has_symptom
+0863d65ae086fe27dec17f5126dcbdd2dffbe215	Tumors with low XPC mRNA levels had a poorer prognosis than those with high XPC mRNA levels, suggesting that @DISEASE$ defects may enhance @PHENOTYPICFEATURE$ metastasis.	has_symptom
+43e9719e4553dd7c635a377e2b74ed6c863649e8	More recently XPC has also been linked to functions outside of NER since @DISEASE$ deficient mice show a divergent @PHENOTYPICFEATURE$ spectrum compared to other NER deficient mouse models.	has_symptom
+26443268b52b5e8c6091a2bf0348c26ce7819a02	, @PHENOTYPICFEATURE$ growth was significantly reduced in tumor-bearing mice when the @DISEASE$ gene was knocked down.	has_symptom
+9eab9f7d9e67648e200c6a79ab6e655c3af1d4da	, tumor growth was significantly reduced in @PHENOTYPICFEATURE$-bearing mice when the @DISEASE$ gene was knocked down.	has_symptom
+637748d7feac6f23dfba412a6755ef7ceded7679	DNA repair genes @DISEASE$ and XPG could be related to carcinogenesis and @PHENOTYPICFEATURE$ progression of bladder cancer.	has_symptom
+4cd8f347f1604e032fe588e1de6239b0c99a8f1d	Mice homozygous for the @DISEASE$ mutant allele (xpcm1/xpcm1) are viable and do not exhibit an increased susceptibility to spontaneous @PHENOTYPICFEATURE$ generation at one year of age.	has_symptom
+7b7cda56e0e3fd2e0005bf92ccf00a0899047d6e	Patients with @DISEASE$ can therefore be diagnosed by IHC from paraffin-embedded skin biopsies from regions of skin that are without sun damage or sun-induced @PHENOTYPICFEATURE$.	has_symptom
+fed30e4ce0a89d46a9e2545e5860f9cc2eb4edc9	In conclusion, p53 dysfunction caused by @DISEASE$ defects in lung cancers may enhance @PHENOTYPICFEATURE$ metastasis via increased MMP1 expression.	has_symptom
+d9626ce31d65ae6b8cc022300ad49f23ba15fb0a	In sun-associated premalignant and malignant skin @PHENOTYPICFEATURE$, E-cadherin is downregulated in association with reduced @DISEASE$ and DDB1 levels.	has_symptom
+a85f677cf2bd7f00de323fb5a184ab3bea8eb2ef	@DISEASE$ defects are associated with many types of solid @PHENOTYPICFEATURE$.	has_symptom
+0ded273ec06ed79497501327e7a07cb1ab5b4764	@DISEASE$ (HHD) is characterised by episodes of weeping @PHENOTYPICFEATURE$ lesions, particularly in areas subject to friction or maceration.	has_symptom
+32f42ecfd491155030436d5088864ae97dd5a705	Clinically, @DISEASE$ presents between the third and fourth decade as flaccid vesicles and blisters on @PHENOTYPICFEATURE$ skin, giving rise to erosions, fissures, and vegetations.	has_symptom
+291a80f21956d03ce7087bfaa1abaea6c903c2f6	@DISEASE$ (LET), a @PHENOTYPICFEATURE$ disorder with characteristic clinical and histological features, has not been generally accepted as a subset of cutaneous lupus erythematosus (CLE).	has_symptom
+e2675cb87a55d8100b6d335a1ad51ba2406c59c6	@DISEASE$ (LET) is a @PHENOTYPICFEATURE$ disease characterized by succulent, edematous, and non-scarring plaques.	has_symptom
+92514768221f52eddaeb65c9d193e78a7660431b	@DISEASE$ (LET) is a photosensitive skin disease characterized by succulent, @PHENOTYPICFEATURE$, and non-scarring plaques.	false
+4654ecab6e20f204e170461669a663549ef8091c	Lupus erythematosus tumidus (LET) is a @DISEASE$ disease characterized by succulent, @PHENOTYPICFEATURE$, and non-scarring plaques.	false
+80a4a6266ccafc9de75ecd89dc1d513963c33764	Mild @DISEASE$ in a patient with @PHENOTYPICFEATURE$.	has_symptom
+c143520492394088de53bc3370d027ffec956a8c	All patients had osteopetrosis, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$ and craniofacial disproportion with large cranial vault and broad forehead.	has_symptom
+cb1646dfe3bd3324408b8916d2cfb341642af0a4	To the best of our knowledge, this is the second case of Klinefelter's syndrome with @PHENOTYPICFEATURE$ due to associated @DISEASE$ reported in the literature.	has_symptom
+e6bd1ae368b1bf8a459b779591a17d5826dd6fe6	Exome sequencing of a patient presenting with infantile-onset hepatopathy, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, leukoencephalopathy with minimal cerebellar involvement and multiple OXPHOS deficiencies revealed the presence of two novel pathogenic compound heterozygous variants in NUBPL (p.Phe242Leu/p.Leu104Pro).	has_symptom
+a551debdaf4a69cc85fd2810a49ada741c4c4c78	However, systemic acidosis is not always evident and @DISEASE$ can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as growth retardation and rickets in children, or @PHENOTYPICFEATURE$ and osteomalacia in adults.	has_symptom
+bd4e4aea1cf6a8b50e1574fe50e114ab4c9e3a73	However, systemic acidosis is not always evident and renal tubular acidosis can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as @PHENOTYPICFEATURE$ and rickets in children, or short stature and @DISEASE$ in adults.	false
+d1558e8ca2d58850482f2b93c72a2094183d04ee	However, systemic acidosis is not always evident and renal tubular acidosis can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as @PHENOTYPICFEATURE$ and rickets in children, or @DISEASE$ and osteomalacia in adults.	false
+4f323f5560b3f6a5b659322ad88bb38efd940383	However, systemic acidosis is not always evident and @DISEASE$ can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as @PHENOTYPICFEATURE$ and rickets in children, or short stature and osteomalacia in adults.	false
+f1f005dd930995c20a78c15fcb500234a1d5d1b5	A 13-year-old girl with severe hypertension (240/140 mm Hg), @PHENOTYPICFEATURE$, marked hyperkalemia (8.6 mEq/liter), and @DISEASE$ was studied.	has_symptom
+aa16ea1afb7eb11bfbcb8b917952a3087aeaacea	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated @PHENOTYPICFEATURE$ (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, @DISEASE$, inflammatory bowel disease, Turner syndrome [TS]).	has_symptom
+3e849fdac7dda3ec8fa07f554835741382a08def	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a @PHENOTYPICFEATURE$) and laboratory tests aiming at detecting disorders that can present as isolated @DISEASE$ (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]).	false
+813f23686c6ab7825f0b505069e7584065ab507e	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a @PHENOTYPICFEATURE$) and laboratory tests aiming at detecting disorders that can present as isolated short stature (@DISEASE$, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]).	false
+6ba39a054d6cd140ad693c0e89cf17f29efe2a00	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a @PHENOTYPICFEATURE$) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, @DISEASE$ [TS]).	false
+4dce87d33151272d120eb29421880621f3c5d520	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a @PHENOTYPICFEATURE$) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, @DISEASE$, inflammatory bowel disease, Turner syndrome [TS]).	false
+24e0b9d1abb4308c31d93884e7fad70ba57f36d8	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated short stature (@DISEASE$, growth hormone deficiency, hypothyroidism, coeliac disease, @PHENOTYPICFEATURE$, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]).	false
+ce78f3346067f99f452cee67f539b31ce0747073	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, @PHENOTYPICFEATURE$, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, @DISEASE$ [TS]).	false
+2bd6d9610967b4dd741e7288891464e2b72d38ee	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, @DISEASE$, coeliac disease, @PHENOTYPICFEATURE$, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]).	false
+7a1b8dc9376928024c1e038d5de5af67723348e5	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a @PHENOTYPICFEATURE$) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, @DISEASE$, coeliac disease, renal failure, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]).	false
+b5ad203dbda6e62f16fad6a94ef2ba234799fc10	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a @PHENOTYPICFEATURE$) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, renal failure, metabolic bone diseases, renal tubular acidosis, @DISEASE$, Turner syndrome [TS]).	false
+ae32b82c7ce695d2a08bceb19a45593f2f40fda9	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated @DISEASE$ (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, @PHENOTYPICFEATURE$, metabolic bone diseases, renal tubular acidosis, inflammatory bowel disease, Turner syndrome [TS]).	false
+75872b2884c76e0d45bfe787ea72477bd4ab0808	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, @PHENOTYPICFEATURE$, metabolic bone diseases, renal tubular acidosis, @DISEASE$, Turner syndrome [TS]).	false
+e24157db34c1d9002eff634308009560c419de59	The second step consists of screening: a radiograph of the hand and wrist (for bone age and assessment of anatomical abnormalities suggestive for a skeletal dysplasia) and laboratory tests aiming at detecting disorders that can present as isolated short stature (anaemia, growth hormone deficiency, hypothyroidism, coeliac disease, @PHENOTYPICFEATURE$, metabolic bone diseases, @DISEASE$, inflammatory bowel disease, Turner syndrome [TS]).	false
+0ebb58580381730c1fc4e67ecddafa0943ffaffc	Clinical examination can easily identify complications such as scoliosis, pseudarthrosis, hypertension linked to @PHENOTYPICFEATURE$ or @DISEASE$ or learning disabilities.	has_symptom
+d5bcf7567ae018aea3d14caee8ca0a1fc311b7ba	Intracellular K+ concentration was 94.3 +/- 3.1 mumol/l in normotensives, 94.7 +/- 3.8 mumol/l in essential hypertensives and 93.8 +/- 3.9 mumol/l in renal hypertensives, 198.2 +/- 149.1 mumol/l in patients with @DISEASE$ and 201.1 +/- 139.1 mumol/l in patients with @PHENOTYPICFEATURE$.	has_symptom
+09bb3226e9601c235d2fc9cdfa241a73c4ed84cb	Intracellular K+ concentration was 94.3 +/- 3.1 mumol/l in normotensives, 94.7 +/- 3.8 mumol/l in essential hypertensives and 93.8 +/- 3.9 mumol/l in renal @PHENOTYPICFEATURE$, 198.2 +/- 149.1 mumol/l in patients with phaeochromocytoma and 201.1 +/- 139.1 mumol/l in patients with @DISEASE$.	false
+4078a47fcbb1693024ea9b8db44566ddb5c162fe	Intracellular K+ concentration was 94.3 +/- 3.1 mumol/l in normotensives, 94.7 +/- 3.8 mumol/l in essential hypertensives and 93.8 +/- 3.9 mumol/l in renal @PHENOTYPICFEATURE$, 198.2 +/- 149.1 mumol/l in patients with @DISEASE$ and 201.1 +/- 139.1 mumol/l in patients with renal artery stenosis.	false
+078c7707f3289b634aa5ab1b8bbe8f1a0ebea705	We present the case of a 6-year-old with childhood-onset @DISEASE$, first presenting with psychiatric symptoms and progressive gait difficulties, slurred speech and @PHENOTYPICFEATURE$.	has_symptom
+19b0840811a21c9213e03c48d779bee6843908ab	We present the case of a 6-year-old with childhood-onset ALD, first presenting with psychiatric symptoms and progressive @PHENOTYPICFEATURE$, slurred speech and @DISEASE$.	false
+bf11637aac56fed46531dc46ef40d1d77b0391e4	We present the case of a 6-year-old with childhood-onset @DISEASE$, first presenting with psychiatric symptoms and progressive @PHENOTYPICFEATURE$, slurred speech and cognitive impairment.	false
+af77581ac2acf807a8bc5f38194895be634986db	The few published neuropsychological studies on CCALD suggest a correlation between the pattern of @PHENOTYPICFEATURE$ and lesion site; however, neuropsychological performance in asymptomatic children with @DISEASE$ has not been investigated.	has_symptom
+f1a4f9ea56b07367016946cad8dc3ba5519b318c	In the present study, a detailed phenotypic analysis performed for a total of five patients with @DISEASE$ revealed that intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, hypothyroidism, and frequent infections comprise the cardinal features of this condition.	has_symptom
+fa2a865edfc997c3ec6622159578684e379fc9fd	In the present study, a detailed phenotypic analysis performed for a total of five patients with @DISEASE$ revealed that @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections comprise the cardinal features of this condition.	false
+fe076b828cd1c4ebe0fe736c4dcf2d4e019ef58d	In the present study, a detailed phenotypic analysis performed for a total of five patients with Takenouchi-Kosaki syndrome revealed that @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @DISEASE$, hypothyroidism, and frequent infections comprise the cardinal features of this condition.	false
+23fc141f9335ed8c3b716ffb57be28b120466b4e	In the present study, a detailed phenotypic analysis performed for a total of five patients with Takenouchi-Kosaki syndrome revealed that @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, @DISEASE$, and frequent infections comprise the cardinal features of this condition.	false
+4f7fab676a670dddbd330b150866e29f9088843e	@DISEASE$ is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	has_symptom
+209e5b91ee708c8ed93c1ea2ae21520a87166140	@DISEASE$ is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+c290bc17932cfdc8f1aa16d91675e52823183216	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, @DISEASE$, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	false
+a7431c77268478fa932646e1c5fab70d36ffddbd	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, @DISEASE$, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+dd5990379a69bb4aa3d77afdb2ddac53c1097ee7	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @DISEASE$, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+83baaad7c0eb37aea156c1970c8c0b402d339bec	@DISEASE$ is clinically recognizable by the combined phenotype of @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	false
+f7f709be6d203940406207c3ef61cda065c11045	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @DISEASE$, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	false
+bc9387620f644eff662de21d2872a156caeb702b	@DISEASE$ (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, @PHENOTYPICFEATURE$, and dysmorphic facial features.	has_symptom
+039732c27bfe0f3136f129b6fb3a858aafcc0387	Thirteen children had severe disabilities: all of them showed @PHENOTYPICFEATURE$; moreover, 11 were tetraplegic, one was hemiplegic with @DISEASE$ and one had a pronounced behavioural abnormality.	has_symptom
+8773626c5fee152300d0f76896491a93ee86cab4	The following period prevalences from birth to age four in per mille were found: motor handicap 5.1, to include cerebral palsy 4.1, myelomeningocele and @DISEASE$ 0.5, and metabolic disorders 0.5; @PHENOTYPICFEATURE$ 2.9, mild 1.4, subnormality 2.7; epilepsy 4.6; severe visual defect 1.4; severe auditory defect 0.7.	has_symptom
+bdf652d00324cb41ae7cad7d52b54da8e98bf846	All the mutations were L1CAM loss-of-function mutations, and all the patients had severe @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+00a561b3defe1d7245d969f708f0fa406c55cd2f	The clinical manifestations of neurologic @DISEASE$ include variable combinations of @PHENOTYPICFEATURE$, dystonia, tremor, parkinsonism, ataxia, and choreoathetosis.	has_symptom
+ed24e33845dde02dd8d13eefc827cf35c284896e	The clinical manifestations of neurologic Wilson's disease include variable combinations of @DISEASE$, dystonia, tremor, parkinsonism, @PHENOTYPICFEATURE$, and choreoathetosis.	false
+71fe18434024e68060a2f4e38c1e041d59a05f49	The clinical manifestations of neurologic Wilson's disease include variable combinations of dysarthria, @DISEASE$, tremor, parkinsonism, @PHENOTYPICFEATURE$, and choreoathetosis.	false
+bdfbaf7a37c9299478fd195ad3b48e1271555b4b	The clinical manifestations of neurologic @DISEASE$ include variable combinations of dysarthria, dystonia, tremor, parkinsonism, @PHENOTYPICFEATURE$, and choreoathetosis.	false
+48c21d2a331324e91422096b22db7938dea6acce	Clinical manifestations of neurologic @DISEASE$ include variable combinations of @PHENOTYPICFEATURE$, dystonia, tremor, and choreoathetosis.	has_symptom
+cbdb6cf0064fb9cb3b3093c5d9cbe08c02450a52	Elongation of the aorta and multiple @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+0d974e1147fc43cf294db613c78f4409bcfccd82	Anomalies in patients with @DISEASE$ include craniosynostosis, @PHENOTYPICFEATURE$, sensorineural hearing loss, and developmental delay, among others.	has_symptom
+41e946b9d1fc035f8a74ab9f69b7d5dc2efd126f	Anomalies in patients with Muenke syndrome include @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, and developmental delay, among others.	false
+7510d891f27ef553c4e2bcb0ef30af8cb6f5243a	Anomalies in patients with Muenke syndrome include craniosynostosis, @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay, among others.	false
+ed3feeb1874f56b67a2dbbde7d31abffd67de666	Anomalies in patients with @DISEASE$ include craniosynostosis, hypertelorism, @PHENOTYPICFEATURE$, and developmental delay, among others.	false
+4a2bd89fbeb3b79f9d544c2523613abd9facd224	The @DISEASE$ (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, @PHENOTYPICFEATURE$, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.	has_symptom
+f087deb6aa4b4d7b9096f0efda2f1f56873a64d5	Syndrome of retarded growth, obesity, @PHENOTYPICFEATURE$ and mental deficiency (@DISEASE$).	has_symptom
+8af118ad9d764b64805f98618a6e14138fb17fd3	Syndrome of retarded growth, @PHENOTYPICFEATURE$, @DISEASE$ and mental deficiency (Prader-Willi syndrome).	false
+31723dc49318b7539b47d8ee7af4ab7cc185410c	Syndrome of retarded growth, obesity, @DISEASE$ and @PHENOTYPICFEATURE$ (Prader-Willi syndrome).	false
+449b41fb51fb5c5c2f3170d36e99e39d192ebc9e	Syndrome of retarded growth, obesity, muscular hypotonia and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f69c20767516386107fd28eb87f5d3b282276776	Syndrome of retarded growth, @PHENOTYPICFEATURE$, muscular hypotonia and mental deficiency (@DISEASE$).	false
+b79c8d589fc70e5fddb1664f286af92a783b6590	The @PHENOTYPICFEATURE$ and obesity associated with @DISEASE$ (PWS) result in a high rate of obstructive sleep apnea (OSA).	has_symptom
+c3f2683ab901c21cc621e2ec4cec91aa0a605e32	The @DISEASE$ and @PHENOTYPICFEATURE$ associated with Prader-Willi syndrome (PWS) result in a high rate of obstructive sleep apnea (OSA).	false
+bb58fac13ddc3cd171e2aa8d85ec41114332b7a2	The muscle hypotonia and @PHENOTYPICFEATURE$ associated with @DISEASE$ (PWS) result in a high rate of obstructive sleep apnea (OSA).	false
+28630f99acc61923f1b06d6b2fe4dd3641dbaf6f	@DISEASE$ (PWS) is a neurogenetic disorder characterized by @PHENOTYPICFEATURE$, psychomotor delay, feeding difficulties and failure to thrive in infancy.	has_symptom
+28db3564cf60575c3dfc89a0cb280bb242ddd6bd	Gait pattern in two rare genetic conditions characterized by @PHENOTYPICFEATURE$: Ehlers-Danlos and @DISEASE$.	has_symptom
+a75a922d87176aa31e2055a9d1806531db3515ee	@PHENOTYPICFEATURE$ and failure to thrive are key symptoms of @DISEASE$ (PWS) allowing diagnosis during infancy already.	has_symptom
+dd11886cbdceae67fede67e1703a6d7830f6548f	@DISEASE$ (PWS) is characterized by short stature, @PHENOTYPICFEATURE$, cognitive dysfunction, and hyperphagia usually leading to severe obesity.	has_symptom
+4ea88e9e8f1525ff07dba94811e1495d2f412f0f	Prader-Willi syndrome (PWS) is characterized by @PHENOTYPICFEATURE$, muscular hypotonia, cognitive dysfunction, and hyperphagia usually leading to @DISEASE$.	false
+eb0309e63eba6dfc1a455bd5e9d22bcf8d35cb41	Prader-Willi syndrome (PWS) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, cognitive dysfunction, and hyperphagia usually leading to severe obesity.	false
+1743d04be896e604cbd96e359f0cec5a1e2d7dfe	@DISEASE$ (PWS) is characterized by @PHENOTYPICFEATURE$, muscular hypotonia, cognitive dysfunction, and hyperphagia usually leading to severe obesity.	false
+59af2818eeb99dd05b58b463a26474c29a9ef91b	Syndrome of retarded growth, obesity, @PHENOTYPICFEATURE$ and mental retardation (@DISEASE$).	has_symptom
+31723dc49318b7539b47d8ee7af4ab7cc185410c	Syndrome of retarded growth, obesity, @DISEASE$ and @PHENOTYPICFEATURE$ (Prader-Willi syndrome).	false
+449b41fb51fb5c5c2f3170d36e99e39d192ebc9e	Syndrome of retarded growth, obesity, muscular hypotonia and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f2722e7790b4e3460b9b814efa23735b3760ae2e	Syndrome of retarded growth, @PHENOTYPICFEATURE$, muscular hypotonia and mental retardation (@DISEASE$).	false
+bc8cf782367212cff78e3a4f0a962f062136b251	Syndrome of retarded growth, @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation (Prader-Willi syndrome).	false
+0ff1d435eb5ea938e6fc0e5a23984a75525d4e76	@DISEASE$ (PWS) is a genetic disorder, characterized by shorter height, severe obesity and @PHENOTYPICFEATURE$.	has_symptom
+2c5104b9a6dbfe9b8c29a9299b2cf65d0bc64c4b	@DISEASE$ (PWS) is a neurogenetic disorder characterized by @PHENOTYPICFEATURE$, psychomotor delay, obesity and short stature.	has_symptom
+cd5ad2bb0733259072050ad02c31d83fc9851d02	Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by @DISEASE$, psychomotor delay, obesity and @PHENOTYPICFEATURE$.	false
+79a6004c97e223a5c086b042c60407ec8dff33a6	Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by @DISEASE$, psychomotor delay, @PHENOTYPICFEATURE$ and short stature.	false
+6e8fdab69c63326cc4c01966b4e2834e476d0b4c	@DISEASE$ (PWS) is a neurogenetic disorder characterized by muscular hypotonia, psychomotor delay, @PHENOTYPICFEATURE$ and short stature.	false
+fd0b1f5cfaae67bb0f37c1fab1c2bc5cf06fa39d	@DISEASE$ (PWS) is a neurogenetic disorder characterized by muscular hypotonia, psychomotor delay, obesity and @PHENOTYPICFEATURE$.	false
+5ea4f8ed9888fcdb1c6bae2018e20b8c202e1a91	Pathology of @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+e09c2f702a63ce673f0a07e499fd88d29e4db9a0	@DISEASE$ presenting as a bladder @PHENOTYPICFEATURE$.	has_symptom
+af1d7182a6cf6357548b998839bdc6aad52149d4	[Association between testicular germinal @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+41a5b59248d90864498da58abb4c85c88e26b89e	Pulmonary inflammatory myofibroblastic @PHENOTYPICFEATURE$ after @DISEASE$.	has_symptom
+c5712df225622fc2bf0aa90c29f97af78445247f	Great caution must be exercised to avoid including non-Hodgkin's disease @PHENOTYPICFEATURE$ under the heading of @DISEASE$ or paragranuloma.	has_symptom
+8858ee119c1bebd8816bd9755646de021e5e3e74	Great caution must be exercised to avoid including non-@DISEASE$ @PHENOTYPICFEATURE$ under the heading of Hodgkin's sarcoma or paragranuloma.	has_symptom
+80d50004c048088b2e5899069bbe12e17d181fef	@DISEASE$: a @PHENOTYPICFEATURE$ with disturbed immunological pathways.	has_symptom
+fedc8af98fe8896adcd69cdaba0f4c84cb418f36	Biologic features of @DISEASE$ and the development of biologic prognostic factors in Hodgkin lymphoma: @PHENOTYPICFEATURE$ and microenvironment.	has_symptom
+6ab2a130f57dcb405aa6398c89cc833b0c70af3d	Biologic features of Hodgkin lymphoma and the development of biologic prognostic factors in @DISEASE$: @PHENOTYPICFEATURE$ and microenvironment.	has_symptom
+448c4ff043b9686f04f0082beae36218275893d8	Familial aggregation of @DISEASE$ and related @PHENOTYPICFEATURE$.	has_symptom
+e4cfdc58732a1310dd09d3170defeb93eb964f46	@DISEASE$ and some solid @PHENOTYPICFEATURE$.	has_symptom
+6c33013eee58302f37b5ab5c3c3b488b9c6f3855	Solid @PHENOTYPICFEATURE$ in patients treated for Hodgkin's disease: a report from the German @DISEASE$ Study Group.	has_symptom
+ebaac90003add2c38b229cc8b41be7bfd357fc2d	Solid @PHENOTYPICFEATURE$ in patients treated for @DISEASE$: a report from the German Hodgkin Lymphoma Study Group.	has_symptom
+6e5aa3825ead67bf7dd14b086f52825b7ff53ed2	Rate of colorectal @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+b884e017850da4b63952bcfa4ec11e7c3a33bd74	The aim of this study is to describe seizure types, electroencephalographic patterns and long-term @PHENOTYPICFEATURE$ outcome in @DISEASE$ patients suffering from epilepsy.	has_symptom
+8298d0ad695359790ec8c088e90afefee6e673ac	The aim of this study is to describe @PHENOTYPICFEATURE$ types, electroencephalographic patterns and long-term seizure outcome in @DISEASE$ patients suffering from epilepsy.	has_symptom
+617d011a5ec844775203beac0a9ccb81f4689781	@DISEASE$ (PWS) has not been widely regarded as a disorder with a risk factor for @PHENOTYPICFEATURE$.	has_symptom
+604bf187b296a29e1aeefd3c39b691c8771fb39f	We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with severe mental retardation and @PHENOTYPICFEATURE$, 3 with a normal phenotype, and 1 with @DISEASE$ (PWS).	has_symptom
+91ace79910bd2f0c26d01f61b0c39c993960cf5e	We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with @PHENOTYPICFEATURE$ and @DISEASE$, 3 with a normal phenotype, and 1 with Prader-Willi syndrome (PWS).	false
+9f14afc157a341c752b1d3c03a71409a958f0442	We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with @PHENOTYPICFEATURE$ and seizures, 3 with a normal phenotype, and 1 with @DISEASE$ (PWS).	false
+adf8f89003cb045b7a0dbd52e0794e119aa8ed7b	The large marker 15 that contains the @DISEASE$ (PWS)/Angelman syndrome (AS) chromosome region is usually associated with an abnormal phenotype of moderate to severe mental retardation, @PHENOTYPICFEATURE$, poor motor coordination, behavioral problems, and mild dysmorphic features.	has_symptom
+fa033e4064effc1af73a11dc8f113692793bf2be	The large marker 15 that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region is usually associated with an abnormal phenotype of moderate to @PHENOTYPICFEATURE$, @DISEASE$, poor motor coordination, behavioral problems, and mild dysmorphic features.	false
+ee071f408ce0b5ad3459fc82b6516cda4d49e25c	The large marker 15 that contains the Prader-Willi syndrome (PWS)/@DISEASE$ (AS) chromosome region is usually associated with an abnormal phenotype of moderate to @PHENOTYPICFEATURE$, seizures, poor motor coordination, behavioral problems, and mild dysmorphic features.	false
+1c2c5031faa61407ccd28444280f62c5224ff645	The large marker 15 that contains the @DISEASE$ (PWS)/Angelman syndrome (AS) chromosome region is usually associated with an abnormal phenotype of moderate to @PHENOTYPICFEATURE$, seizures, poor motor coordination, behavioral problems, and mild dysmorphic features.	false
+3dbbe5293c349f4a8fe7c0a50d18c5ffadf46228	This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on @PHENOTYPICFEATURE$ semiology among patients with @DISEASE$ is reviewed.	has_symptom
+8cfa59a6b80a53e808d8967b4101a6d219fb90cf	This being a novel report of a @DISEASE$ patient with atonic seizures, the literature on @PHENOTYPICFEATURE$ semiology among patients with Prader-Willi syndrome is reviewed.	has_symptom
+6c3029955dfb0a2d06a3a404e9c7a49381112367	Evaluating the frequency and characteristics of @PHENOTYPICFEATURE$ in 142 Japanese patients with @DISEASE$.	has_symptom
+b20e3623f93046ee6093c1a60ceb24aabe61d192	In Angelman and @DISEASE$, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and @PHENOTYPICFEATURE$ phenotype was multiple.	has_symptom
+55fd0910240871777305487bf89e515ec076af61	In Angelman and @DISEASE$, @PHENOTYPICFEATURE$ occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple.	false
+63585ae509bc1c1702ec405f005124d658f19644	In Angelman and Prader-Willi syndromes, @PHENOTYPICFEATURE$ occurred frequently, the onset of epilepsy was in early childhood and @DISEASE$ phenotype was multiple.	false
+c08b2f506da17ac4505cfe7d6e4ff5719582e840	Electroclinical characteristics of @PHENOTYPICFEATURE$-comparing @DISEASE$ with Angelman syndrome.	has_symptom
+aef06a0a0c8ed39be7be0c6deb04b25892d82a54	We retrospectively studied 38 patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+96b50ec493fc5eb1a4f5c3c1548d71fd0e1fad16	The importance of video electroencephalography with electromyography electrodes is emphasized for @DISEASE$ patients with drop episodes, to differentiate cataplexy from @PHENOTYPICFEATURE$.	has_symptom
+c9d3b4b1eedf8d5ed54685c3d29a9ee3556306de	Regulation of the orphan nuclear receptor Nr2f2 by the @DISEASE$ @PHENOTYPICFEATURE$ gene Pou4f3.	has_symptom
+1ecf0b05933e905440257a13d24eab2b5baa6d64	The @DISEASE$ @PHENOTYPICFEATURE$ mutation affects POU4F3 protein stability, localization, and transcriptional activity.	has_symptom
+cc9c14cd4b0da58a7a522caedadf3bfdc0b99fa9	Missense mutations in POU4F3 cause autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ and affect subcellular localization and DNA binding.	has_symptom
+c53bc86baec6d5d12d1320586ba68442f4381ca9	@DISEASE$ (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disease characterized by profound @PHENOTYPICFEATURE$, dementia, and a lifespan of about two decades.	has_symptom
+d6fd9ad779b171f0a3d013de5f579b81c5c19756	Mucopolysaccharidosis type IIIB (MPS IIIB, @DISEASE$) is a lysosomal storage disease characterized by profound @PHENOTYPICFEATURE$, dementia, and a lifespan of about two decades.	has_symptom
+eb1ca01f0d24fab1470b13f061bd27fba840f707	The childhood opsoclonus-@PHENOTYPICFEATURE$ or @DISEASE$, is a uncommon process, of acute or subacute beginning, which affects infant and children.	has_symptom
+e3de40ce12015436939a8404f5344b7e00266b3e	("@DISEASE$ with @PHENOTYPICFEATURE$ ataxia).	has_symptom
+f894bc29fbc38d19166e69f5aaec05b0a9c49673	("@DISEASE$ with myoclonic @PHENOTYPICFEATURE$).	false
+cd86fadbbf0711440ac70e76531e4e2297eff23f	("Dancing eyes" syndrome with @DISEASE$ @PHENOTYPICFEATURE$).	false
+aae2b29b6717e0e54db6ff902b6655fb433bb844	@DISEASE$ (OMS) is a rare neurological disorder associated with chaotic multidirectional eye movements, @PHENOTYPICFEATURE$ and less frequently cerebellar ataxia.	has_symptom
+8c96db191595208cacaa4ed89bc4a1f3ea271c4a	Opsoclonus-myoclonus syndrome (@DISEASE$) is a rare neurological disorder associated with chaotic multidirectional eye movements, @PHENOTYPICFEATURE$ and less frequently cerebellar ataxia.	has_symptom
+11ce1c066f4a9a4089c4f11336b96e821cd1d04c	Opsoclonus-myoclonus syndrome (@DISEASE$) is a rare neurological disorder associated with chaotic multidirectional eye movements, myoclonus and less frequently @PHENOTYPICFEATURE$.	false
+7b87d5b62dd75afe48637494d174fc194708fc35	Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder associated with chaotic multidirectional eye movements, @DISEASE$ and less frequently @PHENOTYPICFEATURE$.	false
+8e14189c649dee3d2b2cfd769b4417682feec90c	Opsoclonus-myoclonus syndrome (OMS) is a rare @DISEASE$ associated with chaotic multidirectional eye movements, myoclonus and less frequently @PHENOTYPICFEATURE$.	false
+b329fade92fa6ee90a50dd4d7b02aba796d7e9c5	@DISEASE$ (OMS) is a rare neurological disorder associated with chaotic multidirectional eye movements, myoclonus and less frequently @PHENOTYPICFEATURE$.	false
+920b7077fa112ac81c29fbbeef6eadf63bb56dee	Ketamine and @PHENOTYPICFEATURE$ encephalopathy of infants (@DISEASE$).	has_symptom
+60c3a5172c51cc20afc9e9f2fe0639fc1967a323	Ketamine and @DISEASE$ @PHENOTYPICFEATURE$ of infants (Kinsbourne syndrome).	false
+60f04645911d6efc6e1a30ad780bd5bf85c641c5	Ketamine and myoclonic @PHENOTYPICFEATURE$ of infants (@DISEASE$).	false
+34359aebeffd4560d9160e68ae17b2f65c3d1219	Opsoclonus-myoclonus syndrome (@DISEASE$) is an involuntary multidirectional eye movement accompanied by @PHENOTYPICFEATURE$ and a subtype of paraneoplastic neurological syndromes.	has_symptom
+64775d22452266c92971738d2555f7560e6e23c4	@DISEASE$ (OMS) is an involuntary multidirectional eye movement accompanied by @PHENOTYPICFEATURE$ and a subtype of paraneoplastic neurological syndromes.	has_symptom
+8531f4613d09962afe5544d2026b080bfe8ef9b4	@DISEASE$ (OMS) in children is a rare disorder including a severe eye movement disturbance, @PHENOTYPICFEATURE$, ataxia and often developmental retardation.	has_symptom
+3e39ffd58b17ceb358e945a3ddd1899017e2087d	Opsoclonus-myoclonus syndrome (@DISEASE$) in children is a rare disorder including a severe eye movement disturbance, @PHENOTYPICFEATURE$, ataxia and often developmental retardation.	has_symptom
+fbb0a3d189df27e982f1e6846117296ed4c93ce1	Opsoclonus-myoclonus syndrome (@DISEASE$) in children is a rare disorder including a severe eye movement disturbance, myoclonia, @PHENOTYPICFEATURE$ and often developmental retardation.	false
+6831977552786e9df4d5f187408a7a1fec1f7d69	@DISEASE$ (OMS) in children is a rare disorder including a severe eye movement disturbance, myoclonia, @PHENOTYPICFEATURE$ and often developmental retardation.	false
+7a410fe33cbf0efa879219e9518c4b94d198f99c	Opsoclonus-myoclonus syndrome (OMS) in children is a rare disorder including a severe eye movement disturbance, @DISEASE$, @PHENOTYPICFEATURE$ and often developmental retardation.	false
+b4248311bb31e301c05ebf0eb6b35e44f0eda19f	@DISEASE$ (OMS), a movement disorder characterised by chaotic eye movements and @PHENOTYPICFEATURE$, is a rare clinical entity.	has_symptom
+4c99cb535bc07b19ec551075fca8027430d0cac2	Opsoclonus-myoclonus syndrome (@DISEASE$), a movement disorder characterised by chaotic eye movements and @PHENOTYPICFEATURE$, is a rare clinical entity.	has_symptom
+92ff58e161e9e9fa03c383595133bd1a38831d51	Opsoclonus-myoclonus syndrome (OMS), a @PHENOTYPICFEATURE$ characterised by chaotic eye movements and @DISEASE$, is a rare clinical entity.	false
+377c11a39bab42ee278364f76a5644260d76a6e2	Opsoclonus-myoclonus syndrome (@DISEASE$), a @PHENOTYPICFEATURE$ characterised by chaotic eye movements and myoclonus, is a rare clinical entity.	false
+ac81eb089533c29c95483009b33e3e8f78af1721	@DISEASE$ (OMS), a @PHENOTYPICFEATURE$ characterised by chaotic eye movements and myoclonus, is a rare clinical entity.	false
+3801482ab1697dfd98ebbfb2897bc60f1789835d	Opsoclonus-@PHENOTYPICFEATURE$ ataxia (@DISEASE$) syndrome is rare in children, mostly caused by neuroblastoma.	has_symptom
+bbca44a70fcda9f61475e8d20f4910d667a3f476	Opsoclonus-@DISEASE$ @PHENOTYPICFEATURE$ (OMA) syndrome is rare in children, mostly caused by neuroblastoma.	false
+02d69b6eb4155ffef2e3e5787b9d35ebf2c1bf12	Opsoclonus-myoclonus @PHENOTYPICFEATURE$ (OMA) syndrome is rare in children, mostly caused by @DISEASE$.	false
+9daa7410ef88e4d2e0bf7bca0d4077697745e365	Opsoclonus-myoclonus @PHENOTYPICFEATURE$ (@DISEASE$) syndrome is rare in children, mostly caused by neuroblastoma.	false
+738355bdd8482181d9cc8a7c924720b319226384	Opsoclonus-myoclonus @PHENOTYPICFEATURE$ (OMA) @DISEASE$ is rare in children, mostly caused by neuroblastoma.	false
+c5802771b5201de36f15a858c25149c131f68161	Correspondence: treatment of the neuroblastoma-associated opsoclonus-@PHENOTYPICFEATURE$-ataxia (@DISEASE$) syndrome with high-dose methylprednisolone.	has_symptom
+0f08a789da37f33eb60edc04e422231821397bb1	Correspondence: treatment of the neuroblastoma-associated opsoclonus-@DISEASE$-@PHENOTYPICFEATURE$ (OMA) syndrome with high-dose methylprednisolone.	false
+470825f000972acaba8440262c1caac65b53b974	Correspondence: treatment of the neuroblastoma-associated opsoclonus-myoclonus-@PHENOTYPICFEATURE$ (@DISEASE$) syndrome with high-dose methylprednisolone.	false
+c3635fcffc5ab33355d8e34e142c79061c944f4e	Correspondence: treatment of the neuroblastoma-associated opsoclonus-myoclonus-@PHENOTYPICFEATURE$ (OMA) @DISEASE$ with high-dose methylprednisolone.	false
+e4851ad36bed69f364dcf827bcd5ded58b774c0d	Correspondence: treatment of the @DISEASE$-associated opsoclonus-myoclonus-@PHENOTYPICFEATURE$ (OMA) syndrome with high-dose methylprednisolone.	false
+b5d79180f26d86c45ab94a1150f82295fe3cfeea	We report a 3-year-old boy with opsoclonus-myoclonus syndrome (@DISEASE$) who presented with exaggerated startle responses to unexpected auditory stimuli during an episode of @PHENOTYPICFEATURE$ status.	has_symptom
+059ddb06b8dec3aacef98e849b11cd2b25a6099d	We report a 3-year-old boy with @DISEASE$ (OMS) who presented with exaggerated startle responses to unexpected auditory stimuli during an episode of @PHENOTYPICFEATURE$ status.	has_symptom
+7fd8dd78c0fa035ffb8178ea92a007149cadbce0	Three patients with @DISEASE$ exhibited early onset of @PHENOTYPICFEATURE$ of the gastrointestinal tract, including the tongue.	has_symptom
+3614f2f446278b8e24a81e27f6f8875c8e9e8d40	Suspicious pigmented @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+5b11f7f16ce8c777d116f114342f2b1c8aa87947	We posit that an early onset @PHENOTYPICFEATURE$, sleep disorder and cognitive decline are adult manifestations of @DISEASE$.	has_symptom
+a5f60e6054eb27d14ce88ce6a5128f70958f1539	@DISEASE$: @PHENOTYPICFEATURE$ and cerebrospinal fluid dynamics.	has_symptom
+dca895530e63d7bb4a1e62c0fb17ab166b574100	Infants with acute @PHENOTYPICFEATURE$ often present with nonspecific neurological signs, and cystic @DISEASE$ (CPP) is a very rare cause of acute obstructive hydrocephalus.	has_symptom
+204474d3a24cd1958dca8aa2fd301e3575f31ecd	Infants with acute hydrocephalus often present with nonspecific neurological signs, and cystic @DISEASE$ (CPP) is a very rare cause of acute obstructive @PHENOTYPICFEATURE$.	has_symptom
+eafce852fbc9a10fcff7d9f6ae92ab70e0e2c3ce	@DISEASE$ five years after shunting for @PHENOTYPICFEATURE$.	has_symptom
+3471fc5dd3b7a8e43b94f3015e14fa1fea136f43	[@DISEASE$ and @PHENOTYPICFEATURE$ in early infancy].	has_symptom
+2f830c937fb79fc8757493d435ebee2ddf60af1a	Cerebrospinal fluid overproduction and @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+9d59235ac22431948e2c50423d7d44ab5b8db6ea	@DISEASE$ is a rare but known cause of @PHENOTYPICFEATURE$ among children.	has_symptom
+1f96de0813d196ec921514aa0ce4ee91e38b1aec	Purely cystic form of @DISEASE$ with acute @PHENOTYPICFEATURE$ in an infant.	has_symptom
+cdf75f4263eea190063a604fd7aae4c9e66b4f94	In rare cases of @DISEASE$ or carcinoma, @PHENOTYPICFEATURE$ is due to an overproduction of CSF.	has_symptom
+0727621c4133b7b9d8f55823d7059c855a475bd2	@DISEASE$ associated with @PHENOTYPICFEATURE$ in infancy.	has_symptom
+60e0cbb423754d2e8dda0a2219fa7fe5c7fd1b42	@DISEASE$ of the lateral ventricles causing @PHENOTYPICFEATURE$ in an infant.	has_symptom
+6e23fd1c5ace152f3c5c34dc289225a232989613	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity.	has_symptom
+21a771abfac6d15fba21a1451dc3449cdb5e8f9f	@DISEASE$ is a variant of Naxos disease characterized by a predominant left ventricular involvement, wooly or curly hair, and @PHENOTYPICFEATURE$ or similar skin disorders.	has_symptom
+3103d7ad707ac61fc2c4a409d5c2c1ce2a6b7b4f	@DISEASE$ (OMIM 605676) is a familial syndrome consisting of woolly hair, @PHENOTYPICFEATURE$ and heart disease.	has_symptom
+15dc806eb05276d5457bd3ccfaf0d9aafd343f7a	The combination of @PHENOTYPICFEATURE$ and woolly hair is uncommon and reported as part of Naxos and @DISEASE$, both caused by mutations in desmosomal proteins and associated with cardiomyopathy.	has_symptom
+6021eab904f51589e0dc82829264379ac5251e58	@DISEASE$ is a familial cardiocutaneous syndrome consisting of woolly hair, @PHENOTYPICFEATURE$, and heart disease.	has_symptom
+c69c70cca9d0c7d35bbca870c7f395b787c5b873	We describe two boys with curly hair, @PHENOTYPICFEATURE$ and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects such as @DISEASE$ and Naxos disease.	has_symptom
+da1daf0a5fdf76a29a3ac2840c26e0b29cd4eb68	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, thick skin, hyperhidrosis and @PHENOTYPICFEATURE$, acrocyanosis and distal transverse nail bands.	has_symptom
+90ee36f0a4fe834528abfec284be5889fb5d8a2b	@DISEASE$ patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+d9c9753fff5d9dc44e24fcc1dd2c9a00c7612456	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and @DISEASE$, acrocyanosis and distal transverse nail bands.	false
+e86fa3e974cef337c129fb8d33940a6637dd5b9d	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, thick skin, @PHENOTYPICFEATURE$ and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+7d130aedd7acdc508c65a8b4e2041092a70594fa	@DISEASE$ patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, @PHENOTYPICFEATURE$ and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+aea49cec48ee7aeb018c05936e937b1d72e8f5ac	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+be8edf9f3fdb24b66bcbf2d5664fd8498c6890d3	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, @PHENOTYPICFEATURE$ and @DISEASE$, acrocyanosis and distal transverse nail bands.	false
+966176584d1e6662c7d3bf8c64e8a7bfa32874ed	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread @DISEASE$, thick skin, @PHENOTYPICFEATURE$ and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+8daa39ee310981d7447b31e531eb9e9fa087fcba	Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread @DISEASE$, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+ced0317b7a5dfd5cf6ba3e7dd0c8785c28c7c14b	These seven unrelated patients, ranging in age from 55 to 72 years, did not have angiokeratoma, acroparesthesias, @PHENOTYPICFEATURE$, or corneal opacities, which are typical manifestations of @DISEASE$.	has_symptom
+f56acf645cdc2d7cb23f7517d2b12bbf29c5432e	These seven unrelated patients, ranging in age from 55 to 72 years, did not have @DISEASE$, acroparesthesias, hypohidrosis, or @PHENOTYPICFEATURE$, which are typical manifestations of Fabry's disease.	false
+a1cbc82ad021d043a0cfe169ad75894b054aa48f	These seven unrelated patients, ranging in age from 55 to 72 years, did not have angiokeratoma, acroparesthesias, hypohidrosis, or @PHENOTYPICFEATURE$, which are typical manifestations of @DISEASE$.	false
+08bb7308c7f262390c5608266a3cc8b7016c5b47	These seven unrelated patients, ranging in age from 55 to 72 years, did not have angiokeratoma, acroparesthesias, @DISEASE$, or @PHENOTYPICFEATURE$, which are typical manifestations of Fabry's disease.	false
+ade937984ed912c4d8f046aa711ae9fc123ffa1f	@DISEASE$ is an X-linked lysosomal storage disorder that is caused by a deficiency in the enzyme ?-galactosidase A. Manifestations emerge during childhood, including neuropathic pain, @PHENOTYPICFEATURE$ and gastrointestinal problems.	has_symptom
+828e293455087f734dec7c3ec400bf4fe0562f76	@DISEASE$ is clinically characterized by severe limb pain, @PHENOTYPICFEATURE$, angiokeratomas and various autonomic symptoms.	has_symptom
+0236478c0789d2a114f91c0a5108b7413b9a7a93	@DISEASE$ is clinically characterized by severe @PHENOTYPICFEATURE$, hypohidrosis, angiokeratomas and various autonomic symptoms.	false
+42a824ace694d35cffc3aaa967793d1f2ef81e32	Fabry disease is clinically characterized by severe @PHENOTYPICFEATURE$, @DISEASE$, angiokeratomas and various autonomic symptoms.	false
+cf894303429aa30940a145d6c74cfe0e20205d74	@DISEASE$ is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, @PHENOTYPICFEATURE$, heart and kidney lesions, and other symptoms, which are described below.	has_symptom
+811565a9a54cef097145f9d0ed5f672948bf5543	@PHENOTYPICFEATURE$ and heat intolerance, frequently reported by men and women with @DISEASE$ (FD), is thought to be related not only to the deposition of globotriaosylceramide (Gb3) in eccrine sweat glands, but also to reduced sweat gland sympathetic innervation.	has_symptom
+8b22346c410525d7909a2bb1319036962df52db1	Crises of severe pain in the extremities (acroparesthesias), @PHENOTYPICFEATURE$, corneal opacities and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in patients with @DISEASE$.	has_symptom
+c235e4370b60e16a39054f033c20a35aa2b87442	Crises of severe pain in the extremities (acroparesthesias), hypohidrosis, @PHENOTYPICFEATURE$ and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in patients with @DISEASE$.	false
+5efb601e0dc9881159e734a282ef3c5481f940f1	Crises of severe pain in the extremities (acroparesthesias), @DISEASE$, @PHENOTYPICFEATURE$ and dysfunction of several organs (kidney, brain, heart) are the leading symptoms in patients with Anderson-Fabry disease.	false
+975af8273ddcba5898aff76c70645b064bffab22	@DISEASE$ is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, @PHENOTYPICFEATURE$, corneal opacities, and dysfunction of the heart, brain, and kidney are observed.	has_symptom
+48eab65616fae59d04de7f39a9e829e6fcea30de	Fabry disease is an @DISEASE$ resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, hypohidrosis, @PHENOTYPICFEATURE$, and dysfunction of the heart, brain, and kidney are observed.	false
+36947390dbb268599a982691cf86898ded8c0317	@DISEASE$ is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, hypohidrosis, @PHENOTYPICFEATURE$, and dysfunction of the heart, brain, and kidney are observed.	false
+66cac46c09f7b029afeec9c0e6ecf2b3fe0b01bc	Fabry disease is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, @DISEASE$, @PHENOTYPICFEATURE$, and dysfunction of the heart, brain, and kidney are observed.	false
+47e1129cac2e4b8e6438cf9c550cf13e40c82ba2	@PHENOTYPICFEATURE$ was the most frequent sign at the first evaluation, followed by neonatal hypoglycemia and presence of nystagmus, strabismus, atrophic optic nerve or malformations in the middle line showed in CNS imaging, suggesting @DISEASE$.	has_symptom
+3d694a69419e28e62fc523f2d591b45baf740eb7	We report 5 children with @DISEASE$, originally referred to be evaluated due to @PHENOTYPICFEATURE$, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay.	has_symptom
+e9904264ffbb88907cf478444f9d71a66ab90cad	Clinically mild forms of both @DISEASE$ and the syndrome of absent septum pellucidum with porencephalies are now detected with the aid of computed tomographic scanning in patients with unexplained hemiatrophy, congenital nystagmus, seizures, and @PHENOTYPICFEATURE$.	has_symptom
+2bb580c11431435773ca91c94453a64b3580ad94	Clinically mild forms of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies are now detected with the aid of computed tomographic scanning in patients with unexplained hemiatrophy, congenital nystagmus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5cbe1943d30c004f042f3c7b2e5a62796f15629c	Clinically mild forms of both @DISEASE$ and the syndrome of absent septum pellucidum with porencephalies are now detected with the aid of computed tomographic scanning in patients with unexplained hemiatrophy, congenital nystagmus, @PHENOTYPICFEATURE$, and short stature.	false
+f6bc43de26c3e4c30cd9e7738e1a8ff8e39e207e	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple hypopituitarism, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by @PHENOTYPICFEATURE$ and anatomical malformations not associated with a classical @DISEASE$ phenotype.	has_symptom
+9782f3b1544cd7d776d054eed896feea78df9154	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple @PHENOTYPICFEATURE$, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by @DISEASE$ and anatomical malformations not associated with a classical SOD phenotype.	false
+a04a537c89c6e06afc9630d218dac4e44b1910e4	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple @PHENOTYPICFEATURE$, firstly GH and, afterwards, TSH and @DISEASE$ deficiencies, in a pluri-malformative syndrome characterized by short stature and anatomical malformations not associated with a classical SOD phenotype.	false
+1fca59bd4d6346e5872eca3e239a169cf7bdb37e	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple @PHENOTYPICFEATURE$, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by short stature and anatomical malformations not associated with a classical @DISEASE$ phenotype.	false
+8dfc6c74178248d59e772bb2fbafc1496b2203fa	The phenotype of @DISEASE$ is highly variable; the clinical picture may include visual impairment, @PHENOTYPICFEATURE$, obesity and sleep-wake inversion.	has_symptom
+4211e6f0ec67e483cff92cc19bb1b9bd67494285	The phenotype of SOD is highly variable; the clinical picture may include @PHENOTYPICFEATURE$, @DISEASE$, obesity and sleep-wake inversion.	false
+d1af748249efdea15bc3a5b1c4bceb972e538dff	The phenotype of @DISEASE$ is highly variable; the clinical picture may include visual impairment, short stature, @PHENOTYPICFEATURE$ and sleep-wake inversion.	false
+e5ea857ca0190394e18c58dda8a11202017c1533	The phenotype of SOD is highly variable; the clinical picture may include visual impairment, @DISEASE$, @PHENOTYPICFEATURE$ and sleep-wake inversion.	false
+874197137c34f69c2324e7d46fa5e76ed6d84822	The phenotype of @DISEASE$ is highly variable; the clinical picture may include @PHENOTYPICFEATURE$, short stature, obesity and sleep-wake inversion.	false
+b49c85be2872cf58f211db77854644dbe0fc252e	Compared to other children referred for evaluation of @PHENOTYPICFEATURE$, children with @DISEASE$ were younger (mean age 3.7 +/- 3.6 vs 8.6 +/- 4.9 years), had less severe short stature (mean +/- SD height SDS -1.80 +/- 1.64 vs -2.17 +/- 0.95), and were more likely to be female (46% F vs 31% M).	has_symptom
+40fc04ef9ed08814f525741ae9d5b85f2cf8b991	Compared to other children referred for evaluation of short stature, children with @DISEASE$ were younger (mean age 3.7 +/- 3.6 vs 8.6 +/- 4.9 years), had less @PHENOTYPICFEATURE$ (mean +/- SD height SDS -1.80 +/- 1.64 vs -2.17 +/- 0.95), and were more likely to be female (46% F vs 31% M).	false
+6834807b24b35b942c06b40661a1a658744830f0	Compared to other children referred for evaluation of @DISEASE$, children with SOD were younger (mean age 3.7 +/- 3.6 vs 8.6 +/- 4.9 years), had less @PHENOTYPICFEATURE$ (mean +/- SD height SDS -1.80 +/- 1.64 vs -2.17 +/- 0.95), and were more likely to be female (46% F vs 31% M).	false
+3c4f84aaa5c48ffb9ce40e6112e0d12564215249	@PHENOTYPICFEATURE$, pleuritis, pericarditis, ocular inflammation, splenomegaly, hepatomegaly, and @DISEASE$ have also been reported in association with rheumatoid vasculitis.	has_symptom
+32c3847aed362b115bc0fae4f6eb26d6416ba630	Weight loss, pleuritis, pericarditis, @PHENOTYPICFEATURE$, splenomegaly, hepatomegaly, and Felty's syndrome have also been reported in association with @DISEASE$.	false
+e32ade20f4a723340547881a390c344f36dbc7c8	Weight loss, pleuritis, pericarditis, @PHENOTYPICFEATURE$, splenomegaly, hepatomegaly, and @DISEASE$ have also been reported in association with rheumatoid vasculitis.	false
+98dc76169eed9c24cf71dc9056f26054f9520114	@DISEASE$, pleuritis, pericarditis, @PHENOTYPICFEATURE$, splenomegaly, hepatomegaly, and Felty's syndrome have also been reported in association with rheumatoid vasculitis.	false
+60dab08ae4930477c48882b666801ab3fff9602f	Fatigue, feveret, @PHENOTYPICFEATURE$, and malaise are frequent clinical signs which can be associated with variable manifestations of extra-articular involvement such as rheumatoid nodules, vasculitis, hematologic abnormalities, @DISEASE$, and visceral involvement.	has_symptom
+52d7e28762a23d41505db1f3382006fe6d467eb1	We have recently described a family with a condition (@DISEASE$ (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild @PHENOTYPICFEATURE$ and occasional pre-axial polydactyly.	has_symptom
+a6d597aec57781202ad33f58ae87dd73e47c60ed	We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild @DISEASE$ and occasional pre-axial @PHENOTYPICFEATURE$.	false
+9b616754ff5a205fd7babe6285e9c3ec105c9100	We have recently described a family with a condition (@DISEASE$ (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly and occasional pre-axial @PHENOTYPICFEATURE$.	false
+5dc02fcf5077d147c450602651d8f0fd696ef4ca	@DISEASE$ (PCP) is an acute and life-threatening lung disease caused by the fungus Pneumocystis jirovecii The presentation of PCP in HIV-positive patients is well-known and consists of a triad of dyspnea, @PHENOTYPICFEATURE$, and cough, whereas the presentation of PCP in HIV-negative patients is atypical and consists of a sudden outbreak, O2 desaturation, and a rapid lethal outcome without therapy.	has_symptom
+1f2206822e747857f7ab2c8bab97fa33f38307d0	A 42 year old male Spanish patient who presented since one year a symptomatic stage IV C1,C2,D HIV infection (@DISEASE$, cerebral toxoplasmosis, esophageal candidiasis, Kaposi's sarcoma) became progressively asthenic with weight loss, diarrhea, @PHENOTYPICFEATURE$ and complained about bone pain.	has_symptom
+25fd6ea63a3a8b5db38a2cfe8886efcaacfe1837	Compared to 56 patients with bacterial pneumonia, @DISEASE$ patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @PHENOTYPICFEATURE$ and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and hypoxemia), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	has_symptom
+525377237309355696620bfbf2372c6a0d9ce17d	Compared to 56 patients with bacterial pneumonia, PCP patients were more likely to have @DISEASE$ and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of fever and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and @PHENOTYPICFEATURE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+bc65dd9eb45839c556b3ac9c379b82825b544391	Compared to 56 patients with bacterial pneumonia, PCP patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of @DISEASE$ and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and @PHENOTYPICFEATURE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+970abaaa70c1d060b5465c125fcf36a02d0589a7	Compared to 56 patients with bacterial pneumonia, @DISEASE$ patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of fever and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and @PHENOTYPICFEATURE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+46600e3cb254bf75c506f6e99573665f45fd31d4	Compared to 56 patients with bacterial pneumonia, PCP patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of fever and of diffuse @DISEASE$ (diffuse crackles, bilateral infiltrates, and @PHENOTYPICFEATURE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+9167c8908a02534ed303f57e9d858cd1904aade0	Compared to 56 patients with @DISEASE$, PCP patients were more likely to have non-Hodgkin lymphoma and be receiving long-term steroids; they had longer times since diagnosis, longer symptom duration, higher frequencies of fever and of diffuse lung disease (diffuse crackles, bilateral infiltrates, and @PHENOTYPICFEATURE$), higher frequency of ground-glass opacities, and lower frequency of pleural involvement.	false
+7feb83eced302356e5a0224ddbf8a59dbd821bc0	Variables within 6 months prior to AIDS diagnosis included age, CD4+ lymphocyte counts, hemoglobin, and self-reported thrush, @PHENOTYPICFEATURE$, anti-retroviral therapy (ART) beginning prior to AIDS onset, and ART beginning after AIDS (as a time-dependent covariate) were analyzed as mutually exclusive categories, as was prophylaxis for @DISEASE$ (PCP).	has_symptom
+f1f2e32d330036bd0b02a56892d821244852eebe	He later presented with dyspnea and @PHENOTYPICFEATURE$, was diagnosed with @DISEASE$ by bronchoalveolar lavage, and died despite aggressive therapy.	has_symptom
+24e7ec736fcb4d00c51a9efee946ce9243169880	Upon admission comprehensive clinical assessment including assessment of four or more clinical manifestations (cough, dyspnea, @PHENOTYPICFEATURE$, chest pain, and weight loss) in non-HIV infected @DISEASE$ patients and albumin ? 30 g/L in HIV infected patients might improve prognosis.	has_symptom
+86d6d4a36b6824f04718bcb51a7f544139960ed4	@DISEASE$ (PcP) in immunocompromised patients is suggested if the following symptoms develop: dyspnea, @PHENOTYPICFEATURE$, and interstitial infiltrates on chest x-ray.	has_symptom
+801597e22f4f2730303815129d26ee952e985cd8	(vii) If HIV were to cause AIDS, it would have a paradoxical, country-specific pathology, causing over 90% @DISEASE$ and Kaposi sarcoma in the U.S. but over 90% slim disease, @PHENOTYPICFEATURE$, and diarrhea in Africa.(viii)	has_symptom
+9cc2f6dd3d826c8a647da8de5574bef4994da719	In order to determine the pattern of C-reactive protein (CRP) concentrations in HIV-infected patients with various other infections, we conducted a prospective study (for the period 1990-91) of all HIV-seropositive patients hospitalized with @PHENOTYPICFEATURE$ and a retrospective study (for the period 1990-95) of all patients infected with Mycobacterium avium complex (MAC) and @DISEASE$ (PCP).	has_symptom
+e6ca033d3e33160a6ddbc3844c57ff54023fa505	We report a case of colonic @DISEASE$ in a human immunodeficiency virus (HIV)-positive homosexual male who presented with @PHENOTYPICFEATURE$ and diarrhea.	has_symptom
+4ea1c1d71197af8de4d8ae62976b5f7546b0266f	@DISEASE$ is a rare @PHENOTYPICFEATURE$ lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.	has_symptom
+1222d697a40ec79e0845ccf8b459b728efeb988b	@DISEASE$ is associated with other systemic malformations, including @PHENOTYPICFEATURE$.	has_symptom
+7302755a373a5201df3b2bcbd91710bef4dfb6f1	It is clear that a significant number of patients with the @DISEASE$ are @PHENOTYPICFEATURE$.	has_symptom
+7aedc4a02783764f3ae393ecd8536282df2edfd6	@PHENOTYPICFEATURE$, considered as common in @DISEASE$ could be in part due to associated brain abnormalities.	has_symptom
+9417e598f01b8efabbfac01db44b8f40e021b0bc	@DISEASE$ is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of @PHENOTYPICFEATURE$ in patients with Apert syndrome.	has_symptom
+b786da59a245af4f7d01047f3fd65754e8211e2f	Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+5638211e888139eb334dcfb95796826a0f3faf77	@DISEASE$ is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with @PHENOTYPICFEATURE$ usually present.	has_symptom
+db53ec1b6cc3dbcd9b203f718ee5828c2cfb63e9	Apert syndrome is characterized by craniosynostosis, symmetric @PHENOTYPICFEATURE$ and other systemic malformations, with @DISEASE$ usually present.	false
+bbbc79fa5834c715da809a82378d171bf71d51b6	@DISEASE$ is characterized by craniosynostosis, symmetric @PHENOTYPICFEATURE$ and other systemic malformations, with mental retardation usually present.	false
+331f821d8fa627ff6f3a68c8bc3e447e19afe87b	Apert syndrome is characterized by @DISEASE$, symmetric @PHENOTYPICFEATURE$ and other systemic malformations, with mental retardation usually present.	false
+7e40d055cf4e9c0b80210265af56c89efd977cc6	Letter: @DISEASE$ does not equal @PHENOTYPICFEATURE$.	has_symptom
+a2bff1b6ee00b62ebdbd156b18c07dd101973d29	A syndrome with multiple malformations, @PHENOTYPICFEATURE$, and @DISEASE$ deficiency.	has_symptom
+38d636d70bf3c0fd21dc56a43dd01bb8969f2893	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and @PHENOTYPICFEATURE$.	has_symptom
+d056e5345afa512485abe0052bbb1cb00a1e6b40	@DISEASE$ patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and mental deficiency.	false
+ddd54e114c3c97713249e38dbbe93d8825896369	@DISEASE$ patients are different in clinical pathology, including obstructive sleep apnea, @PHENOTYPICFEATURE$, and mental deficiency.	false
+4d72391a1e6785271d2dcadbebcb0cf84fd40e71	Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a68665b7cb84bab62585a6bb4f798e5e6ae8d631	Apert syndrome patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$.	false
+a02aee7ae150a1fa7dbfed7941566862b1b32cd0	In syndromic cases, the risk of intracranial hypertension is higher in Crouzon syndrome, and @DISEASE$ carries the higher risk of @PHENOTYPICFEATURE$.	has_symptom
+c8cf25adeb52b678065518c16f0ddbca427815cb	Children with @DISEASE$ continue to face erroneous assumptions of @PHENOTYPICFEATURE$ and social stigmatization because of their appearance.	has_symptom
+a632b2c6f1b93af44284f0dcd8f4b202b3f496a2	Individuals affected with inherited vitamin E deficiencies including ataxia with isolated vitamin E deficiency and @DISEASE$ present with a spinocerebellar syndrome similar to patients with Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+448fbf06b0d5976aea3e9a9395647f6f417ca0ba	Symptomatic severe deficiency is constantly observed in @PHENOTYPICFEATURE$ with vitamin E deficiency and @DISEASE$. Intestinal, hepatobiliary, and pancreatic diseases are often associated with more or less marked deficiency.	has_symptom
+53266e7ed9a0c0f1eeade08f1d057e3513f6dd9b	Thalamic DBS proved to be both safe and efficacious in the management of @PHENOTYPICFEATURE$ and tremors in a patient with @DISEASE$.	has_symptom
+f7a54aae257f2be96b2c9d899e3e972a05b7909c	@DISEASE$ is a rare disorder of fat absorption, characterized by vitamin deficiency, acanthocytosis, and neurologic symptoms including @PHENOTYPICFEATURE$ and tremor.	has_symptom
+f66c4d448d932000ebf523a7ea444548128330ec	Deep brain stimulation for the treatment of tremor and @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+c3d399e30f8d57cc55c409a2a3f56c0db9dbcddc	@DISEASE$ (ABL [Bassen-Kornzweig syndrome]) is characterized by marked hypolipidemia with absence of low-density lipoproteins, fat-soluble vitamin deficiency, spinocerebellar @PHENOTYPICFEATURE$, and retinitis pigmentosa.	has_symptom
+41fcead5dd1b1fd62d64bb8941abec174d0cf8ee	@DISEASE$ is an uncommon cause of @PHENOTYPICFEATURE$ and retinitis pigmentosa (RP).	has_symptom
+d9c4ad73c32918df32f4f3684885943eabcf39b6	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	has_symptom
+da30da1a3c74340e0a377f3ca62e4eb22b39e6ec	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+e708d1150963a86639d1b7ca7e49e72f16ba28c7	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+1f6bf145666269a5cb6205d6f502e94bace16b0c	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @DISEASE$ with @PHENOTYPICFEATURE$ and deafness.	false
+2a0f7e3ae1115fbb7fc611a2e8da44207ccc46f1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+508fe73b61d4f603b7071024d574c190db516a9e	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+58d0e2da62232cf43f44258386198e69c3924475	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+76942d47c3252314277ec1ac49de744d76e514a1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @DISEASE$ with blindness and @PHENOTYPICFEATURE$.	false
+a3c19dc172e775030057384010cf76ca68c37e78	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+dfc3bd354d922d7e88791299fd728d0e3d1bd3d3	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+e9c7c1dfc3681862abb5cc0c51af2026fae2ec23	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+b5dd36b363ace46dd1d4f0d2092562d7267b671e	Other forms are much less frequent, and include ataxia with vitamin E deficiency, @DISEASE$. Refsum's disease, spastic ataxia, infantile onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with oculomotor apraxia.	has_symptom
+7585654d2c64cdad7dc85e5ea594dacaffa2c0a3	Other forms are much less frequent, and include @PHENOTYPICFEATURE$ with vitamin E deficiency, @DISEASE$. Refsum's disease, spastic ataxia, infantile onset spinocerebellar ataxia, and ataxia with oculomotor apraxia.	has_symptom
+58d85863a85cf61f27773f74bd6c14d1c3462f71	Disorders of serum lipoproteins such as @DISEASE$ form a distinct group of neuroacanthocytosis syndromes in which @PHENOTYPICFEATURE$ is observed, but movement disorders are not seen.	has_symptom
+0339ef694786e8e0eecf3be0c4e52c7b23d9dd86	We report on a newborn boy with @DISEASE$ and @PHENOTYPICFEATURE$, bilateral cryptorchidism, and shallow orbital cavities.	has_symptom
+709aa4d5fee7605fb402c3cf5af5382eb2739330	The @DISEASE$: agenesis of the corpus callosum associated with @PHENOTYPICFEATURE$ and progressive sensorimotor neuronopathy.	has_symptom
+1f68a74a3eef736534efca79541bee8545d5ba9a	The Andermann syndrome: @PHENOTYPICFEATURE$ associated with @DISEASE$ and progressive sensorimotor neuronopathy.	false
+8a3e2c7b0ef694afd72bba2cfe785272d3cb9ac3	The @DISEASE$: @PHENOTYPICFEATURE$ associated with mental retardation and progressive sensorimotor neuronopathy.	false
+7a4b45e0517abe4f3dd54009042b2007a142c698	People affected by @DISEASE$ have @PHENOTYPICFEATURE$, areflexia and severe progressive neuropathy often accompanied by psychiatric symptoms, and they typically die in the third decade of their life.	has_symptom
+cb5eddd84d9036a5858701a9220b01dab8034614	@DISEASE$ (ACCPN) is a severe sensorimotor neuropathy associated with @PHENOTYPICFEATURE$, dysmorphic features and complete or partial agenesis of the corpus callosum.	has_symptom
+575560c705dd258a386fa057d7652fb407601d4e	@DISEASE$ is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, @PHENOTYPICFEATURE$ and facial features.	has_symptom
+995d43d46f2098194c7b801ffe28e541ca046b5a	Andermann syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-sensory neuropathy, mental retardation and @DISEASE$ features.	false
+8b20a127eabbf7820b334064ef3aec7d57d35a7b	Andermann syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-sensory neuropathy, @DISEASE$ and facial features.	false
+4f4f2264f927ad43e0b024df1c4f6cca5dd4d08c	@DISEASE$ is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@PHENOTYPICFEATURE$, mental retardation and facial features.	false
+7f26991bff32aedd2d2fda6bc109748ca115dc92	@DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-sensory neuropathy, mental retardation and facial features.	false
+0fe77feb0360c41b54ad584e044714fdf3eed170	Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@PHENOTYPICFEATURE$, mental retardation and @DISEASE$ features.	false
+b3853d0c47d23d71f6c2a41ae8c596730d246b50	Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@PHENOTYPICFEATURE$, @DISEASE$ and facial features.	false
+3dfdf0beccb4a1df6f305451412f0732cd27ea6d	We studied 62 patients affected by the @DISEASE$, a polymalformative familial syndrome combining frequent congenital corpus callosum agenesis, @PHENOTYPICFEATURE$, psychotic episodes, peripheral neuropathy, and some dysmorphic features.	has_symptom
+b4afecbfd6440382bc236b4afed2f542292c663b	We studied 62 patients affected by the @DISEASE$, a polymalformative familial syndrome combining frequent congenital @PHENOTYPICFEATURE$, mental retardation, psychotic episodes, peripheral neuropathy, and some dysmorphic features.	false
+393cf76e27a3ab0f198ad315ddac07dca77e7580	We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital @PHENOTYPICFEATURE$, mental retardation, psychotic episodes, @DISEASE$, and some dysmorphic features.	false
+98e8ed8e016ec9f1ceee277772e0cdf794755986	We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital @PHENOTYPICFEATURE$, @DISEASE$, psychotic episodes, peripheral neuropathy, and some dysmorphic features.	false
+1dae680fe2c0f37a040fe9c826817fc23f1a50dd	Procedural indications were PEG tube placement (n=11), choledocholithiasis (n=2), biliary stricture (n=2), obstructive jaundice (n=1), cholangitis (n=1), ampullary mass (n=1), sphincter of Oddi dysfunction (n=1), @PHENOTYPICFEATURE$ and/or bleeding (n=15), abdominal pain (n=9), radiologic evidence of obstruction (n=3), and @DISEASE$ (n=2).	has_symptom
+c01fee7b3f62ed9994023ba32708e69aad7b56c1	They are relatively common causes of young-onset @PHENOTYPICFEATURE$ and usually present with behavioural disturbance (behavioural variant FTD) or language impairment (primary progressive aphasia), but there is also overlap with motor neurone disease and the atypical parkinsonian disorders, @DISEASE$ and progressive supranuclear palsy.	has_symptom
+c33f3a0079bc5364e8930cf51ec1e72c9cadfc55	@DISEASE$ @PHENOTYPICFEATURE$ and leukopenia treated with methotrexate and mycophenolate mofetil.	has_symptom
+05ed639d9862560abea1418d1b3e3dc036388892	Side effects leading to discontinuation were: @DISEASE$ (n=2, 1.4%); fatigue and drowsiness (n=2, 1.4%); dizziness, nausea, and vomiting with normal laboratory tests (n=2, 1.4%); dizziness, @PHENOTYPICFEATURE$ with serum Na levels <130 mEq/L (n=5, 3.4%); and elevated serum gamma-glutamyl transferase levels (GGT>200mg/dL) (n=1, 0.7%).	has_symptom
+e56738d5eb3289598e01e869f77e9911cbc86d70	Side effects leading to discontinuation were: Stevens-Johnson syndrome (n=2, 1.4%); fatigue and @PHENOTYPICFEATURE$ (n=2, 1.4%); dizziness, nausea, and vomiting with normal laboratory tests (n=2, 1.4%); dizziness, @DISEASE$ with serum Na levels <130 mEq/L (n=5, 3.4%); and elevated serum gamma-glutamyl transferase levels (GGT>200mg/dL) (n=1, 0.7%).	false
+db33ed88c5efbb16053b0f13dd23a90ae972ed7c	Side effects leading to discontinuation were: @DISEASE$ (n=2, 1.4%); fatigue and @PHENOTYPICFEATURE$ (n=2, 1.4%); dizziness, nausea, and vomiting with normal laboratory tests (n=2, 1.4%); dizziness, nausea, and vomiting with serum Na levels <130 mEq/L (n=5, 3.4%); and elevated serum gamma-glutamyl transferase levels (GGT>200mg/dL) (n=1, 0.7%).	false
+9ed2190cdb41d4da2e87a36632838275c8770cc9	A 58-year-old man with @DISEASE$, who had received a right-sided single-lung transplant 2 years earlier, was referred to the sleep clinic for the assessment of nocturnal position-dependent episodes of @PHENOTYPICFEATURE$ and frequent arousals when lying on his right side.	has_symptom
+060f95bccccd0c1206ca01384a540dea8f573a66	We report a case of a patient with crescentic @DISEASE$ presenting with rapidly progressive @PHENOTYPICFEATURE$, polyarthropathy, and a purpuric rash in association with a monoclonal immunoglobulin G ?-light-chain producing multiple myeloma.	has_symptom
+180422f94dcfc48613ccd2d96d0239d36f0c7d59	@DISEASE$ is a rare renal complication of Sj?gren's syndrome, and progress to @PHENOTYPICFEATURE$ in such patients is possible.	has_symptom
+8eb866065ae870964f0a9c17f725bb106050ce59	A detailed analysis of the histopathologic features of renal biopsies of 48 patients in whom a diagnosis of @DISEASE$ was concluded on renal biopsy and who presented clinically as rapidly progressive @PHENOTYPICFEATURE$ was done.	has_symptom
+db4bc19f7d39733146629d4a3f7e567d8f013acb	The findings of proteinuria, @PHENOTYPICFEATURE$, and @DISEASE$ on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener's granulomatosis with associated intestinal vasculitis.	has_symptom
+308038df30777012884f69e1fc29e9ec8c030d57	The findings of proteinuria, renal failure, and @DISEASE$ on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener's granulomatosis with associated intestinal @PHENOTYPICFEATURE$.	false
+5da002ff4133f18de91c38c52fa2e8dbde32e25f	The findings of proteinuria, @DISEASE$, and pauci-immune glomerulonephritis on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener's granulomatosis with associated intestinal @PHENOTYPICFEATURE$.	false
+a32e0e7e067ed750310226c57d10b052dc4d530f	The findings of @DISEASE$, renal failure, and pauci-immune glomerulonephritis on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener's granulomatosis with associated intestinal @PHENOTYPICFEATURE$.	false
+b23166cabe5fc394e61900295a58b919f0f849c9	Here we describe the case of a 42-year-old woman with @DISEASE$ and vasculitis presenting as rapidly progressive @PHENOTYPICFEATURE$ with characteristic pathologic and immunohistologic findings.	has_symptom
+ca2d663198223210ba9601d3ae95084cfc27754d	CLN2 disease (@DISEASE$) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by @PHENOTYPICFEATURE$, seizures, rapid cognitive and motor decline, blindness, and early death.	has_symptom
+ca8b211f3f53d7aa407f867e108963c5dbd8eb3f	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by @DISEASE$, seizures, rapid cognitive and motor decline, @PHENOTYPICFEATURE$, and early death.	false
+322f77240861188d40eaa9090444bb83e2fda0e4	CLN2 disease (@DISEASE$) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, @PHENOTYPICFEATURE$, rapid cognitive and motor decline, blindness, and early death.	false
+6b8c1849612378959bc18ddbcf6828ae7bbb41ec	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative @DISEASE$ caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, @PHENOTYPICFEATURE$, and early death.	false
+7fa0db47c6df65841395842dc9c765921054ff0b	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative @DISEASE$ caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, @PHENOTYPICFEATURE$, rapid cognitive and motor decline, blindness, and early death.	false
+f404e83bd36027e519b84d16bda34d9a68a0318c	CLN2 disease (@DISEASE$) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, @PHENOTYPICFEATURE$, and early death.	false
+2485742e1d5f9e8004e9dd6ce42172c12c47c57f	CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by @DISEASE$, @PHENOTYPICFEATURE$, rapid cognitive and motor decline, blindness, and early death.	false
+7dce9f812f1121546495277f6f44d9e758927c73	@PHENOTYPICFEATURE$ eczema and folliculitis with defective leucocyte and lymphocyte function: a new familial @DISEASE$ responsive to a histamine-1 antagonist.	has_symptom
+e459be72c2188ca524cfd69c0a875faa813b5a77	Pyoderma @PHENOTYPICFEATURE$ and folliculitis with defective leucocyte and lymphocyte function: a new familial @DISEASE$ responsive to a histamine-1 antagonist.	false
+ae8a487a6627c06a2ff878013adf815292fb5ccb	@DISEASE$ @PHENOTYPICFEATURE$ and folliculitis with defective leucocyte and lymphocyte function: a new familial immunodeficiency disease responsive to a histamine-1 antagonist.	false
+974d425d11983050ebb2eb28d2463d8c5439f497	The @DISEASE$ comprises short femurs and a facies with short nose, elongated philtrum, @PHENOTYPICFEATURE$ and micrognathia.	has_symptom
+aa827e28dcd30450d5091cf957e944f26df54684	The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f9260d493ae29380deec465c80af5a58abd24f0e	The @DISEASE$ comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and @PHENOTYPICFEATURE$.	false
+012cfe058c3f673c023c3665ef0d6222d2474d44	@DISEASE$ comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set ears with soft cartilage of the helix, up-slanting palpebral fissures, shortened nose, blunt alae nasi, elongated philtrum, and a @PHENOTYPICFEATURE$.	has_symptom
+904b6a8cc7f1ee9fe2633b92eddc73019289c6c2	Validity of two new patient-reported outcome measures in @DISEASE$: Patient-Reported Outcomes Measurement Information System 29-item Health Profile and Functional Assessment of Chronic Illness Therapy-@PHENOTYPICFEATURE$ short form.	has_symptom
+9608fa9e6b030df8cfcd5189a64ff2afee3adf9f	Association between brain structural anomalies, electroencephalogram and history of @PHENOTYPICFEATURE$ in @DISEASE$ (Hunter syndrome).	has_symptom
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	has_symptom
+ce032e89676a05ca59bf7c006d1919d79f77fe97	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and @DISEASE$.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+7b91ec4794fdad09846bf7e57115664932fd5255	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+051efc1bcc27b86c45c546ecf519610782ed88a5	Thus, a trial of hGH may be appropriate in children with Hurler or @DISEASE$, @PHENOTYPICFEATURE$, and growth failure.	has_symptom
+71ddf642205e0e1dccd9b1d02dbbf29ef3e6f69f	@DISEASE$ (CADASIL) is the most frequent monogenic cause of @PHENOTYPICFEATURE$, but reliable biomarkers to monitor the disease are lacking.	has_symptom
+94dffca2ec06a12782e2e2482b9d86958ac52690	Background @DISEASE$ (CADASIL) manifests by migraine with aura, @PHENOTYPICFEATURE$ events, mood disturbances and dementia.	has_symptom
+d67bb1862b93bcf062ef8749cdea2c337c2d815a	Congenital muscular dystrophy (@DISEASE$) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, @PHENOTYPICFEATURE$, joint contractures, and dystrophic changes in the muscles.	has_symptom
+69a30856a019ca9acc3228cace6b3488b38495ed	@DISEASE$ (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, @PHENOTYPICFEATURE$, joint contractures, and dystrophic changes in the muscles.	has_symptom
+d714722f0766d450aa497c393cb49f327c97f37f	Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, and dystrophic changes in the muscles.	false
+fa01f255c1b0e156c3f8fef2e902d984dfbca23b	Congenital muscular dystrophy (@DISEASE$) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, @PHENOTYPICFEATURE$, and dystrophic changes in the muscles.	false
+a3bab8138392faf7ce7d101dde15454847980692	@DISEASE$ (CMD) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, @PHENOTYPICFEATURE$, and dystrophic changes in the muscles.	false
+a1f590e76303e9a4ff3d993fc49a522e807d739c	@DISEASE$ (CMD) comprises a heterogeneous group of disorders present at birth with @PHENOTYPICFEATURE$, hypotonia and contractures.	has_symptom
+8be55144f2a169a998379d1ccc3e429429d41a2f	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders present at birth with @PHENOTYPICFEATURE$, hypotonia and contractures.	has_symptom
+33f8bde0363bb3066567b89a3307ee3ad26dd113	@DISEASE$ (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and @PHENOTYPICFEATURE$.	false
+179aad0dd8e1291873b99f25e483c4a0e4a01c3d	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and @PHENOTYPICFEATURE$.	false
+601f9035b5677871b6c7af3669ec0e3e737e2e20	Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with @DISEASE$, hypotonia and @PHENOTYPICFEATURE$.	false
+c4880d01c7d8c7abf0136c8cdda054a1e835f7d7	Severe hypotonia, joint deformities and @PHENOTYPICFEATURE$ at birth are the main features of @DISEASE$.	has_symptom
+b1492e0b6b65b92e72539b428d808b545cc3887f	@DISEASE$ (CMD) comprises a heterogeneous group of disorders with @PHENOTYPICFEATURE$, hypotonia and contractures present at birth.	has_symptom
+76ffdd23ff93610bc149d0e7e5a4d609cfb2f2c0	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders with @PHENOTYPICFEATURE$, hypotonia and contractures present at birth.	has_symptom
+ac3c9cf973b6fbd3b1ee8384dddfe2590f905e9f	@DISEASE$ (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and @PHENOTYPICFEATURE$ present at birth.	false
+0afb8a34dfb45d73aa95c1da266fc67d434f0cec	Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with @DISEASE$, hypotonia and @PHENOTYPICFEATURE$ present at birth.	false
+b2826d65731f4de673e0fe0d928422fd387415bf	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and @PHENOTYPICFEATURE$ present at birth.	false
+e38717e5205c1fa6b3c476995fa87f4603122440	@DISEASE$ (CMD) are a clinically heterogeneous group of muscular disorders characterized by hypotonia, @PHENOTYPICFEATURE$ and early or congenital joint contractures.	has_symptom
+d73499f6658f135556a4624dd83512be6c6b0fd6	Congenital muscular dystrophies (@DISEASE$) are a clinically heterogeneous group of muscular disorders characterized by hypotonia, @PHENOTYPICFEATURE$ and early or congenital joint contractures.	has_symptom
+4f256d7e2fb644277b7a379a65049f24e5199685	@DISEASE$ (CMD) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by @PHENOTYPICFEATURE$ and hypotonia at birth or within the first few months of life and developmental delay.	has_symptom
+710e85ae49e585f6878209144c5d50258fe2e128	Congenital muscular dystrophy (@DISEASE$) encompasses a heterogenous group of muscle disorders with autosomal recessive inheritance, characterized by @PHENOTYPICFEATURE$ and hypotonia at birth or within the first few months of life and developmental delay.	has_symptom
+4635ff80c5842eb3b2fc8a0b187dd30f5eae63f1	@DISEASE$ (CMD) is a heterogeneous group of neuromuscular disorders characterized by @PHENOTYPICFEATURE$ and hypotonia at birth or within the first few months of life.	has_symptom
+0b58d092681153a4387a2ca3b543302b6826d939	Congenital muscular dystrophy (@DISEASE$) is a heterogeneous group of neuromuscular disorders characterized by @PHENOTYPICFEATURE$ and hypotonia at birth or within the first few months of life.	has_symptom
+1e73d1c4ae842b0ca0ee1d2924c6bb62ae1ee65b	@DISEASE$ (CMD) is a concept applied to infants showing @PHENOTYPICFEATURE$ and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy.	has_symptom
+f773fdf3489aafd0581e7c516084a51062f5b206	Congenital muscular dystrophy (@DISEASE$) is a concept applied to infants showing @PHENOTYPICFEATURE$ and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy.	has_symptom
+040bc2728813d8f96990e7b6a184f57a875a0fa2	The congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of autosomal recessive disorders presenting in infancy with @PHENOTYPICFEATURE$, contractures, and dystrophic changes on skeletal-muscle biopsy.	has_symptom
+5b77f27d027407767d8e9aaaa3a00e97d01f64f2	The @DISEASE$ (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with @PHENOTYPICFEATURE$, contractures, and dystrophic changes on skeletal-muscle biopsy.	has_symptom
+ee99956fd35edf191392ed23929e6c8c8853aa03	The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with @DISEASE$, @PHENOTYPICFEATURE$, and dystrophic changes on skeletal-muscle biopsy.	false
+e80ec5679408b5610af350f37939417965442f6b	The @DISEASE$ (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, @PHENOTYPICFEATURE$, and dystrophic changes on skeletal-muscle biopsy.	false
+aa2c386e5daf908790dc8cd400254d7424ef2335	The congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, @PHENOTYPICFEATURE$, and dystrophic changes on skeletal-muscle biopsy.	false
+f180b1683960878cf5a09cb3585e372f9cbc477c	@DISEASE$ are defined by congenital or infantile onset of @PHENOTYPICFEATURE$; while 12 culprit genes have been identified, many cases remain molecularly uncharacterized.	has_symptom
+34ef32436724dc0b5e43ddd875410ca0e4c2687b	Thirty cases of the @DISEASE$ (@PHENOTYPICFEATURE$ and pili torti) have been reported between 1965, when it was first described, and 1999.	has_symptom
+2ea54b4660ef128d10ee667e5e54244cb30b727b	We evaluated a large kindred with @DISEASE$ in which eight members inherited pili torti and prelingual @PHENOTYPICFEATURE$ as autosomal recessive traits.	has_symptom
+b5a9c4309a4d757af2b4413c49eb66abfb0ec338	The @DISEASE$ (@PHENOTYPICFEATURE$ and pili torti) disease gene maps to chromosome 2q34-36.	has_symptom
+00d64c2dd4e6cff8282509a7c5f02d52900526a1	We report the first Italian patients with @DISEASE$, two siblings with pili torti and @PHENOTYPICFEATURE$, in whom we detected two novel compound heterozygous mutations in BCS1L.	has_symptom
+5decda77e5f19d1dac1899e05db58b813e669b53	@DISEASE$ is a rare condition characterized by pili torti and @PHENOTYPICFEATURE$ associated with pathological variations in BCS1L.	has_symptom
+2b0ca05c5b49a4459aba977ee10eb921cbfeb047	Three members of a family with pili torti and @PHENOTYPICFEATURE$: the @DISEASE$.	has_symptom
+2751f6763ebb7595d8a018139545b1792d11f498	A 9-year-old male patient with @DISEASE$ presented with typical skin lesions along with progressive dimness of vision and @PHENOTYPICFEATURE$ since birth.	has_symptom
+6e96f269960baffa2bc5b5248626285c387979dd	@DISEASE$ is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and @PHENOTYPICFEATURE$.	has_symptom
+e0ff8f55d0e065f1ea0ad29dcb297f0997891cc9	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), @DISEASE$, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @PHENOTYPICFEATURE$ and seizures.	has_symptom
+60a93c73a1ba7419700add68852288d9ce73ab4d	@DISEASE$ (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and @PHENOTYPICFEATURE$.	false
+0c11e9c643d3aa2dbecb573e6a61218470873f42	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), @DISEASE$, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and @PHENOTYPICFEATURE$.	false
+aaac16bdab35c203848e2f39833eab6fd6f0b1e7	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ee737fee1e040237b007f85ad42f3ec476ddc448	We report on a patient with @PHENOTYPICFEATURE$, onycho- and osteodystrophy and mental retardation (@DISEASE$) and review the literature.	has_symptom
+3689769e2d44a587c1af74a439acf6501c952677	We report on a patient with @DISEASE$, onycho- and osteodystrophy and @PHENOTYPICFEATURE$ (DOOR syndrome) and review the literature.	false
+f7fc15fe18b256996acd995df59be46b22595d5e	We report on a patient with sensorineural deafness, onycho- and osteodystrophy and @PHENOTYPICFEATURE$ (@DISEASE$) and review the literature.	false
+ac774a9db1b540f929198c4c925e6d099b1c9efa	Four patients from three families with the clinical features of @DISEASE$ (onycho-osteodystrophy, dystrophic thumbs, @PHENOTYPICFEATURE$, and increased urinary levels of 2-oxoglutarate) are the subjects of this report.	has_symptom
+537c892c6dba664bd11aa84eec3e6953800d5bdf	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by @PHENOTYPICFEATURE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	has_symptom
+5bb12e6e824c2d65de485bb936c8e869300c19ba	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by @DISEASE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @PHENOTYPICFEATURE$.	false
+4d807174bdfcbf7e62325fe891160383d72e878e	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, @PHENOTYPICFEATURE$, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+fcd5f36579053e45acb7c0a6558fdbd2dc817273	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, @PHENOTYPICFEATURE$) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+8301058c79cb23e5015eccd53f1c5fe9caefc697	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @PHENOTYPICFEATURE$.	false
+901d87a4f4169b3a68d0a1a63381fba960efc9ce	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, @PHENOTYPICFEATURE$) is characterized mainly by @DISEASE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+14f14e96017a1b870bc5fca2a6612462e425e1f4	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, @PHENOTYPICFEATURE$, Seizures) is characterized mainly by @DISEASE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+b2b27ad4953888c1f2d63e4dc07627ba1b945888	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	has_symptom
+6d8ee8af48e2a402357688c3a71f96779205af7a	Two of them had a clinical diagnosis of DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @DISEASE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+b3e2f6321cb7ef44a9967a097d67af88d778c591	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and @PHENOTYPICFEATURE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+8ded3b74e8b9319720c7d1f5c9f5f6c51c7b51d2	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @DISEASE$, shortened terminal phalanges with small finger and toenails, @PHENOTYPICFEATURE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+bad64b8d1a5d93e95820ebebd54eef29887cb6fe	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @DISEASE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and @PHENOTYPICFEATURE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+c078fb2b7dfb3a828ba3ed8c415d39d5c872eb07	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures), a condition that includes @DISEASE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+9b9ddcb1906d2a270be230e69af95807d884dd81	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and @PHENOTYPICFEATURE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+9124710d4092b73f292a465065c989ee81046fb2	Two of them had a clinical diagnosis of @DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+667bab70f0dbdf418c832e7da4f8dfa937a27638	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+a9dea030ffd1d0b85e401c405497538804a79ad7	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @PHENOTYPICFEATURE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+e7f2fb6de28b5bf29c7afd1421d3ef28d68bb4f8	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and @PHENOTYPICFEATURE$), a condition that includes @DISEASE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+6c952618463ab4b5db2b96fce838651a144c9adc	A diagnosis of @DISEASE$ was warranted by persistent postnatal growth failure, @PHENOTYPICFEATURE$ with a Seckel-like facial appearance, and distinctive radiological findings, including overtubulation of the long bones, metaphyseal cupping of the distal femora, and brachyphalangy with ivory epiphyses.	has_symptom
+f4085089b990b6945bbc4f1d800634e02c40f317	@DISEASE$ (MOPDII) is a form of dwarfism associated with severe @PHENOTYPICFEATURE$, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions.	has_symptom
+cc655caf407c654af9f36512e0d23a11aaf5cf94	Despite intrathecal baclofen administration in patients with @PHENOTYPICFEATURE$ related to @DISEASE$ is not widely reported, we consider it as feasible treatment.	has_symptom
+6a03756ad20abd4ea3d1d3784196e5a11ca15cc8	Five years later, the patient presented with @PHENOTYPICFEATURE$, severe renal dysfunction, and alveolar hemorrhage with high titer of MPO-ANCA that indicated pulmonary renal syndrome due to @DISEASE$.	has_symptom
+d3edd79ce020d10764d9313a45dad303363dd1c7	Therefore, if a patient presents with @PHENOTYPICFEATURE$, arthralgia, skin rash and is ANCA-positive, appropriate steps should be taken to exclude infection (especially IE) before confirming the diagnosis of @DISEASE$ and embarking on long-term immunosuppressive therapy.	has_symptom
+fed6ed55ad32c1e69ef1ed609da36386fed036f6	Patients with late-onset rheumatoid arthritis (LORA), patients with @PHENOTYPICFEATURE$, patients with @DISEASE$ (GPA), patients without any autoimmune disease at age > 65 years, and blood donors served as controls.	has_symptom
+2337953005942cdd16f95e2768a1ef73a7946394	Furthermore, radiotherapy may induce @DISEASE$ @PHENOTYPICFEATURE$, and postsurgery glioblastoma irradiation may give rise to secondary gliosarcomas.	has_symptom
+5f8a7f374d531961a1cace5dd310a3be404c0af3	We report the case of a 28-year-old female subject affected by the attenuated phenotype of @DISEASE$ characterized by moderate slowly evolving @PHENOTYPICFEATURE$ in which the urinary content of heparan sulfate was demonstrated as being substantially low compared to that found in patients with the severe phenotype.	has_symptom
+cfc6dacf2d5e3f2a9e0b7db243704b2f91bd8847	Global developmental delay and @PHENOTYPICFEATURE$ are associated with X-linked disorders including Hunter syndrome (@DISEASE$) and Fragile X syndrome (FXS).	has_symptom
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	has_symptom
+3072755021b12f89814ea3ae976b1dd171fd2f0f	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	false
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	false
+bdd46963fa34a9f6a38f3af806f3effe46fdc229	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @DISEASE$, behavioural problems and @PHENOTYPICFEATURE$.	false
+9696107eec695e150f115c7cde0ad743263d7091	The fourth case, diagnosed biochemically and presymptomatically as late infantile @DISEASE$, had a subtle @PHENOTYPICFEATURE$ when grafted at 18 months of age.	has_symptom
+1e219c32dd5dcd2f82bf7c6d54bc5d55f852333e	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form @DISEASE$. Growth retardation, delayed motor development, @PHENOTYPICFEATURE$, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of MLD.	has_symptom
+6878871167cb7780e1f6bbcd14d1c615368c65d1	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form MLD. Growth retardation, delayed motor development, @PHENOTYPICFEATURE$, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of @DISEASE$.	has_symptom
+15d099abc6f709a72c5c43ca03dea73a9ed54012	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form MLD. @PHENOTYPICFEATURE$, delayed motor development, gait disturbances, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of @DISEASE$.	false
+e9be84ccad562aa33700d14a37442c8c94b09793	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form @DISEASE$. @PHENOTYPICFEATURE$, delayed motor development, gait disturbances, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of MLD.	false
+392b46c85b21c093baee4a6a31613c6482513c96	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form MLD. @PHENOTYPICFEATURE$, delayed motor development, @DISEASE$, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of MLD.	false
+7a6d5d218e5cf058ee68fcac902913f8953d824f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	has_symptom
+767c3e38a2af5bd99373bea0e19690ac6d775898	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+fe997a6d515c8c896933925210aab2150537788a	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+f9fbd2d92b9c001172d8eb57468728d76b20972f	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @DISEASE$, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+e4704070bfc4aa45f55b56aa1021d7045165a877	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+cd3be1ec9d97cc4ad4e453e9ed8c860d888611b8	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+ecfb2e16cab1da5c0b78ca05dc7b924af335c6b8	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+febfd16d23a28d5f7479b8758b6fd628bd765c4f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+5701b3ec780635c39330847d6fcc331905476165	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+f8a895c2a5004dea01e713d919abf394524a4297	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @DISEASE$, seizures, mental retardation, and @PHENOTYPICFEATURE$.	false
+3151777d7be6ca415e4e74669334537868bfef44	In women with Stage I/II or Stage III/IV endometriosis, severity of deep @PHENOTYPICFEATURE$ was strongly associated with bladder/pelvic floor tenderness and @DISEASE$, independent of endometriosis-specific factors, which suggests the role of myofascial or sensitization pain mechanisms in some women with deep dyspareunia.	has_symptom
+98be885fbdb7c771f0f670bceedf74f6a8bcf12c	In women with Stage I/II or Stage III/IV endometriosis, severity of deep dyspareunia was strongly associated with bladder/pelvic floor tenderness and @DISEASE$, independent of endometriosis-specific factors, which suggests the role of myofascial or sensitization pain mechanisms in some women with deep @PHENOTYPICFEATURE$.	has_symptom
+41646bf843c3ef2bf4fddc1335529f6b2c833b42	Among women with Stage I/II endometriosis, severity of deep @PHENOTYPICFEATURE$ was associated with both bladder/pelvic floor tenderness and @DISEASE$ (AOR?= 1.94, 95% CI: 1.11-3.38,	has_symptom
+1e86110b24c84707b6f1ef1c16c80660de352b19	Bivariate associations with the primary outcome (severity of deep @PHENOTYPICFEATURE$) were tested for bladder/pelvic floor tenderness, @DISEASE$, as well as endometriosis-specific factors identified at the time of laparoscopic surgery (eg, deep infiltrating endometriosis) and demographic factors (eg, age).	has_symptom
+3c4348d36420343e61c74dcf6e9a57dff9e40f54	Endometriosis, pelvic congestion syndrome, and @DISEASE$ have been associated with deep @PHENOTYPICFEATURE$.	has_symptom
+c817ed1af26ac6cb6d8d7bde0a8474c82fb0bb6f	The reason some patients might not respond to traditional treatments is the multifactorial nature of deep @PHENOTYPICFEATURE$ in endometriosis, which can include comorbid conditions (eg, interstitial cystitis and @DISEASE$) and central sensitization underlying genito-pelvic pain penetration disorder.	has_symptom
+c4c7ea81dbb0e2c0d8051c8517fce236e5af9ed1	The reason some patients might not respond to traditional treatments is the multifactorial nature of deep @PHENOTYPICFEATURE$ in endometriosis, which can include comorbid conditions (eg, @DISEASE$ and bladder pain syndrome) and central sensitization underlying genito-pelvic pain penetration disorder.	has_symptom
+73f999b197720db49c55349fddc290bc9553517a	A woman experiencing very strong urgency and associated frequency of micturition, but no incontinence, and deep @PHENOTYPICFEATURE$ was eventually diagnosed with idiopathic detrusor overactivity with symptoms of overactive bladder symptom complex and potentially @DISEASE$.	has_symptom
+dcf0ff16a4cf594c4bb2c0d5689a954c28149d2c	This study aimed to determine whether bladder/pelvic floor tenderness and @DISEASE$ were associated with severity of deep @PHENOTYPICFEATURE$ in women with endometriosis, regardless of Stage (I/II vs III/IV) or other endometriosis-specific factors.	has_symptom
+c3339807d96e78ff5d85b1d256d5215d67d35573	We report a baby with congenital bowing of the long bones, camptodactyly, @PHENOTYPICFEATURE$ and radiological features resembling both St?ve-Wiedemann syndrome and @DISEASE$. The baby had, in addition, agenesis of the corpus callosum.	has_symptom
+cb67395dcefe25e6f9a855cf9f4f8f5f3836841a	We report a baby with congenital bowing of the long bones, camptodactyly, @DISEASE$ and radiological features resembling both St?ve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. The baby had, in addition, @PHENOTYPICFEATURE$.	false
+e3f02ce52120e610b08d45820df360995514cb24	We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both St?ve-Wiedemann syndrome and @DISEASE$. The baby had, in addition, @PHENOTYPICFEATURE$.	false
+947cd4d3e7c3c5a1cd830dc42c89114f82b39d86	We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both St?ve-Wiedemann @DISEASE$ and Schwartz-Jampel syndrome type 2. The baby had, in addition, @PHENOTYPICFEATURE$.	false
+9380ae26e20eac2c1ffa5a4deb9d070e657fe958	Bilateral @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	has_symptom
+802a37a12c790b1d2d9ca680ce191b2c31ce0358	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, @PHENOTYPICFEATURE$ without cleft lip, and @DISEASE$.	has_symptom
+ce5fbfbd5cb294200e7e3869acc67eefc456edc9	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, @PHENOTYPICFEATURE$, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, @DISEASE$, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula.	false
+28de62ddc05184d3c5b33a0b1527677305400bfc	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, @PHENOTYPICFEATURE$, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, @DISEASE$ without cleft lip, and esophageal atresia/tracheoesophageal fistula.	false
+0bc1856edff2e40760eedda51fc56c6bd6c31c9b	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, @PHENOTYPICFEATURE$, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and @DISEASE$.	false
+7c8a6a9dd54d8ac88533ab2340faa77a59e40c1c	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, @PHENOTYPICFEATURE$, encephalocele, gastroschisis, and @DISEASE$, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula.	false
+4186eef6bfa516cd01c3b6c0af755b310cc1ef6f	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, @PHENOTYPICFEATURE$, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without @DISEASE$, and esophageal atresia/tracheoesophageal fistula.	false
+2cc08552bcce133b8ed4b78824f448d629097675	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	has_symptom
+0b30efdc7d8eeaba1e9eca1135521fef1f99e445	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+3eb77e384d878b78210a633a1e0b6f89eb81031a	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+c8caa33a5a10ebbcc83c26461dedbf5b05efa247	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @DISEASE$, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+74c273962e6c82eb1b9429b086388f497ed956bb	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+41ce2964798a5f5dc1260f77acda9f47a1b64de7	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+1cabe4e96f482e13b2ab55a028c75ac9823d6fd1	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+9a9a9c0e3dfae8ffd31923dc477b9d41b905193d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @DISEASE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+544440f8a13da135617b48f6fd7d000613e91683	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+011202acec2dc5d528b13476f3cc4afa5dd9d985	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+a8b68b4b56d5209305fbdbd87f2418e138aab3aa	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+442f6570cd425a753f1a768ad950890f8bbdcb65	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+42b68997ec80a0aed6ccd4da61ea807a00bdcaa5	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ae9100619119014029ad42a25ecc584546ad95d8	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+34c58378689ad0853ba8b6a02a9b906433156b01	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+93b18e0722299e8585cda16a1146fa55e7476f4e	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+930616095ed12bf8cc8e2a7d1afbb7399f4a55eb	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @DISEASE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ff0c9257d25d2c0555b05cc31fdbf696b498fd5d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+9c9a9833a5e5e1115990080426dfc15a1a594d4d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @DISEASE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+ec24170b006ffa350a3657474066f1c3d8790a4c	V?radi syndrome, designated @DISEASE$ type VI, is a rare disorder that is additionally characterized by @PHENOTYPICFEATURE$.	has_symptom
+5d00cc8e484594f0b4600646df433d7a3153fa92	Given the endocardial fibroelastosis and @PHENOTYPICFEATURE$, @DISEASE$ (Facio-cardio-renal) is a possible diagnosis.	has_symptom
+0440a1422223ddeafe6153741f8e743b03431a42	Pyridoxine-responsive @PHENOTYPICFEATURE$ (PRS) and the role of pyridoxine (PN, vitamin B(6)) in @DISEASE$ (HPP) are incompletely understood.	has_symptom
+4f8cd1c782d8effd34ddc46ea600fa055581b693	Along with skeletal findings, @DISEASE$ patients may present with hypercalcemia, @PHENOTYPICFEATURE$, pseudotumor cerebri, and pulmonary insufficiency.	has_symptom
+75e4708ef18737a7ca5bdf2cde2d9d87b7d24d43	Pyridoxine-dependent @PHENOTYPICFEATURE$ associated with @DISEASE$ in a newborn.	has_symptom
+a4b5faba2be57b38103f06a5cf8144790c4edcac	Mice lacking Akp2 model infantile @DISEASE$ characterized by skeletal hypomineralization, impaired growth, @PHENOTYPICFEATURE$, and perinatal mortality.	has_symptom
+27164ead4afe25842255b69c73cda0b82d13e89c	@DISEASE$ (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, @PHENOTYPICFEATURE$, premature tooth loss, and fractures.	has_symptom
+f8c233d16015970f814397e7fe2e1c7da526bc03	Hypophosphatasia (@DISEASE$) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, @PHENOTYPICFEATURE$, premature tooth loss, and fractures.	has_symptom
+540fed15918192163fd9ee580ec4b12da44a0faf	@DISEASE$ presenting with pyridoxine-responsive @PHENOTYPICFEATURE$, hypercalcemia, and pseudotumor cerebri: case report.	has_symptom
+2606213c1536df232bc9eaf9aaebed07b9f3e614	@DISEASE$ patients exhibit various presentations depending on their age at onset, such as infantile HPP combined with vitamin B6-responsive @PHENOTYPICFEATURE$.	has_symptom
+c8d97c972e8c1b6461281d5acd165c20f7188011	HPP patients exhibit various presentations depending on their age at onset, such as infantile @DISEASE$ combined with vitamin B6-responsive @PHENOTYPICFEATURE$.	has_symptom
+19e57f81e8cd5f0417d1f7ff51a198b16836db85	Neonatal @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+706880bbeb5b86c2b1a0eacad07d4f268b714262	The pathophysiology of pyridoxine-responsive @PHENOTYPICFEATURE$ (PRS) in severe @DISEASE$ remains to be clearly defined.	has_symptom
+b31a7241d6435306baee1615c475e6b3b5d15867	@PHENOTYPICFEATURE$ in @DISEASE$ are refractory to conventional antiepileptic drugs, but are responsive to pyridoxine.	has_symptom
+e0454efae9c5398b75b54f0aa7988a4331efa81b	There was no evidence of celiac disease, systemic or intestinal @PHENOTYPICFEATURE$ or @DISEASE$, overt lymphoid malignancy, or stagnant-loop syndrome.	has_symptom
+e44f59b11c317f82b66ceda55eb29d8741b93d4a	Some patients have severe permanent neutropenia and @PHENOTYPICFEATURE$ early in life, while others have mild intermittent neutropenia.Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency) and @DISEASE$ (associated with a glycogen storage syndrome).	has_symptom
+2adb0a60485284acbb8e1feb445687dc4540baf1	It is presented a rare case of @DISEASE$ customized by the clinical association with @PHENOTYPICFEATURE$ and instructive clinical and evolutionary complexity.	has_symptom
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+3a66d38c351dd5be61ab71ea1387606e9b0e8fa9	We report on a Greek girl with pancytopenia, short stature, clinodactyly, @PHENOTYPICFEATURE$, exopthalmus, strabismus, caf?-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded @DISEASE$.	has_symptom
+9605da6a6f5438d4702395b458381af7ef019f1f	We report on a Greek girl with @DISEASE$, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, exopthalmus, strabismus, caf?-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia.	false
+b71b614d9bd73366b1e4f9e841e54d7cf1a976e9	We report on a Greek girl with pancytopenia, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, exopthalmus, strabismus, caf?-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded @DISEASE$.	false
+0eb8eaa8021178beff890bfeab247bf4151a977e	We report on a Greek girl with pancytopenia, @PHENOTYPICFEATURE$, clinodactyly, @DISEASE$, exopthalmus, strabismus, caf?-au-lait spots, and mild mental retardation in whom chromosomal analysis excluded Fanconi anemia.	false
+fdbf5e5f7393e0aa1a3d0f93e5403e84d9991549	Patients with @DISEASE$ c.934AA genotype had 2.13 and 2.04 more risks of presenting @PHENOTYPICFEATURE$ progression and death than others in multivariate Cox analysis.	has_symptom
+9018b5af9dd56629dca5971080366b61d455b8ef	The relationships between @DISEASE$ expression and various clinicopathological features (including age, FIGO stage, @PHENOTYPICFEATURE$ size, stroma involvement, lymph node metastasis and histologic grade) were assessed.	has_symptom
+cbb0010b3fc75f57abec4a224669b46660682a48	Our present data demonstrate that @DISEASE$ protein levels correlate with resistance to alkylating agents in human @PHENOTYPICFEATURE$ cell lines suggesting that XPD is implicated in the development of this resistance.	has_symptom
+d911e7703a8548848532b570f8f3ef29d9e0c8f8	Our present data demonstrate that XPD protein levels correlate with resistance to alkylating agents in human @PHENOTYPICFEATURE$ cell lines suggesting that @DISEASE$ is implicated in the development of this resistance.	has_symptom
+0a0b7229ee47852f3158b500d93f003853628a4b	A significant joint effect of cigarette smoking, alcohol consumption and both hOGG1 and XPD risk genotypes increases UC risk and UC cases carrying both hOGG1 and @DISEASE$ risk genotypes have a significantly greater risk of high grade @PHENOTYPICFEATURE$.	has_symptom
+923cc1c96e7880fd0fb02d18842fb30d7c3b294c	A significant joint effect of cigarette smoking, alcohol consumption and both hOGG1 and @DISEASE$ risk genotypes increases UC risk and UC cases carrying both hOGG1 and XPD risk genotypes have a significantly greater risk of high grade @PHENOTYPICFEATURE$.	has_symptom
+3cc16a6a2255f97fa7b6d0644093b22f02beab7a	There exists no obvious contribution of @DISEASE$ genotypes to @PHENOTYPICFEATURE$ size (p=0.3531),	has_symptom
+3f5906a07a5c50009bc2385fb45c3dbe34858134	Both patients with @DISEASE$ developed skin @PHENOTYPICFEATURE$ around 40 years of age.	has_symptom
+d327ae39117dfdca7313f12510ce68a0f7d53e00	Our present data demonstrate that XPD protein levels correlate with resistance to alkylating agents in human @PHENOTYPICFEATURE$ cell lines, suggesting that @DISEASE$ plays an important role in the development of this resistance.	has_symptom
+335157a4a930b51e786eda4d3aea9fc51514c990	Our present data demonstrate that @DISEASE$ protein levels correlate with resistance to alkylating agents in human @PHENOTYPICFEATURE$ cell lines, suggesting that XPD plays an important role in the development of this resistance.	has_symptom
+f91e3a80d5ee16ec02e08f6ce29b9027a1d88b78	However, no statistically significant relationship was found regarding @DISEASE$ expression and age, FIGO stage, @PHENOTYPICFEATURE$ size, stroma involvement, lymph node metastasis or histologic grade (P = 0.089, 0.953, 0.809, 0.275, 0.421, 0.387 respectively).	has_symptom
+d874027b483787a4156b2cbe2e5324e7bd5a375c	Complete @DISEASE$ loss was present in two @PHENOTYPICFEATURE$ from 1 patient, suggesting a germline defect, and in the invasive component of an SCC from a second patient, suggesting a somatic alteration.	has_symptom
+6a5e609a0ada83bdb87b9c6abcc6c54aa91b4026	The contributions of the @DISEASE$ and XRCC1 allelic variants to OS are @PHENOTYPICFEATURE$ site- and/or stage-dependent.	has_symptom
+94e9a83d4dd7ffcec2c715c98f3841e9be6c14c5	Studies of malformation syndromes in man XXXX: multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome or variant familial developmental pattern; differential diagnosis and description of the @DISEASE$ (with XXY son from XY/XXY father).	has_symptom
+5e24a5a12765801dba4ab8cd001d39131a5b1a5a	KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (@DISEASE$) that often manifests with @PHENOTYPICFEATURE$.	has_symptom
+3f59d6db087eeedbf0dae86d699a01e883680a7b	KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with @PHENOTYPICFEATURE$ (Andermann syndrome) that often manifests with @DISEASE$.	false
+1a374bcfded87c52b3504f7041d4126cc857edcd	KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with @PHENOTYPICFEATURE$ (@DISEASE$) that often manifests with epileptic seizures.	false
+772a4e4376fc921c1b4d9325c50846f6568619f8	KCC3 mutations have been associated with hereditary motor and sensory @DISEASE$ with @PHENOTYPICFEATURE$ (Andermann syndrome) that often manifests with epileptic seizures.	false
+74515e1352e184398afc6bbd5a7f295b83d5d273	However, symptomatic pulmonary disease may occur with @PHENOTYPICFEATURE$, cough, chest pain, hemoptysis, dyspnea, and wheezing due to (1) Loffler's syndrome, (2) the effects of larval tissue migration, (3) airway reactivity or bronchospasm, (4) infectious bacterial complications from parasitic migration and associated aspiration, and rarely (5) @DISEASE$, transdiaphragmatic penetration, or symptoms of upper airway obstruction.	has_symptom
+a9863fec08c01b325c97edcfd896175b7e4d7bce	@DISEASE$ is a relatively uncommon condition associated with @PHENOTYPICFEATURE$, malaise, weight loss, dyspnea, and hypoxia.	has_symptom
+0ad41a89f555a37d5a5d33ff2c841bf886680edf	Chronic eosinophilic pneumonia is a relatively uncommon condition associated with @DISEASE$, malaise, @PHENOTYPICFEATURE$, dyspnea, and hypoxia.	false
+9bf96758b5e8812955ecb724bb092d4e031aaf9d	@DISEASE$ is a relatively uncommon condition associated with fever, malaise, @PHENOTYPICFEATURE$, dyspnea, and hypoxia.	false
+7474bdb60e9845a511a9440f2067b20ba066cf3f	@DISEASE$ is a subacute-to-chronic pulmonary disorder occurring most commonly in nonatopic women with cough, @PHENOTYPICFEATURE$, dyspnea, weight loss, and night sweats.	has_symptom
+fd71f860fa8fea6117d752bedb031f7d422f6ddc	Cherry-red spot, @PHENOTYPICFEATURE$ and corneal cloudings in a patient suffering from @DISEASE$ type I.	has_symptom
+ab566db090a68b46d138e97f6237daabb3fc652f	Microcephaly-capillary malformation syndrome (@DISEASE$) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset @PHENOTYPICFEATURE$, profound psychomotor disability, and multiple cutaneous capillary lesions.	has_symptom
+07917e7ad189469a1719aa778d2db31a4c00f712	@DISEASE$ (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset @PHENOTYPICFEATURE$, profound psychomotor disability, and multiple cutaneous capillary lesions.	has_symptom
+ee1f249fea15bdb699d23e2a62c7c8af57480c78	Microcephaly-capillary malformation syndrome (@DISEASE$) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe @PHENOTYPICFEATURE$, early-onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions.	false
+119821fae7e48148d0266acaa7e6d8994bbb1574	@DISEASE$ (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe @PHENOTYPICFEATURE$, early-onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions.	false
+54bd87e8fe7e79c9e11f847c5c160cb58a7c2d26	Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset @DISEASE$, profound psychomotor @PHENOTYPICFEATURE$, and multiple cutaneous capillary lesions.	false
+9771bb996fd1c48b6d187f7d5196eca07a8745e8	Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous @DISEASE$ characterized by severe @PHENOTYPICFEATURE$, early-onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions.	false
+d65e617d7a20a2bc5ebb38969acedfc4cd034e92	Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe @PHENOTYPICFEATURE$, early-onset @DISEASE$, profound psychomotor disability, and multiple cutaneous capillary lesions.	false
+87b21a19013875ac6e9d53f4a45fdd2524b0ba63	Microcephaly-capillary malformation syndrome (@DISEASE$) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset seizures, profound psychomotor @PHENOTYPICFEATURE$, and multiple cutaneous capillary lesions.	false
+843de0b04a4cf723ba256741ef04439cc9ac2e54	Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous @DISEASE$ characterized by severe microcephaly, early-onset seizures, profound psychomotor @PHENOTYPICFEATURE$, and multiple cutaneous capillary lesions.	false
+09a6634bb022b24339bacd312ba44c60802a3ff8	@DISEASE$ (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset seizures, profound psychomotor @PHENOTYPICFEATURE$, and multiple cutaneous capillary lesions.	false
+b07a68424cb289b0d2a947e74645c2f62adb0874	Here, we reported a case of a patient with @DISEASE$ who developed @PHENOTYPICFEATURE$ and the therapeutic usefulness of Coenzyme Q10 (CoQ10).	has_symptom
+64310ca79ed6ad34a2daf874cd0ccdc055f04cd0	Some of which are increasingly recognized as an important cause of human pathology such as oxidative phosphorylation (OXPHOS) disorders, @DISEASE$ (MIDD), Type 2 diabetes mellitus, neurodegenerative disorders, @PHENOTYPICFEATURE$ and cancer.	has_symptom
+ede002b8d2a544caa5603b84069bd464439da9cd	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and @DISEASE$ and that associated diseases, such as coronary heart disease, @PHENOTYPICFEATURE$ and arterial hypertension, are more important in this respect.	has_symptom
+37143cf36f11443cf508439be0780ab4ddfb1eab	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and @DISEASE$ and that associated diseases, such as coronary heart disease, cardiac failure and arterial @PHENOTYPICFEATURE$, are more important in this respect.	false
+f20f2632e4efa206c637d3daf076cf8b0b022762	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and MID and that associated diseases, such as @DISEASE$, cardiac failure and arterial @PHENOTYPICFEATURE$, are more important in this respect.	false
+150ae52b3642ed62bf286840e21f66ed8b2f26fb	Our results suggest that determination of total cholesterol and high-density lipoprotein cholesterol is of minor value in the differential diagnosis between AD and MID and that associated diseases, such as coronary heart disease, @DISEASE$ and arterial @PHENOTYPICFEATURE$, are more important in this respect.	false
+04e1ebb77949a99b9ceac069c1de664f28bc3745	Main features of @DISEASE$ include polyhydramnios, fetal overgrowth, neonatal macrosomia, @PHENOTYPICFEATURE$, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor.	has_symptom
+b38ac15ff85ce93e9348ca46c94752733674fc7b	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and @PHENOTYPICFEATURE$.	has_symptom
+53ae24edc29243723a0f3ddd84f4dabbda2f1895	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of intellectual disability associated with @PHENOTYPICFEATURE$ and macrocephaly.	false
+e6b4ff1941f813dda18278ffca9ffd4d2de00d7c	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of @PHENOTYPICFEATURE$ associated with overgrowth and macrocephaly.	false
+4bc41a3de1b22cd5c2e125ac88f37458be69b63f	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan @DISEASE$), a syndromic form of intellectual disability associated with @PHENOTYPICFEATURE$ and macrocephaly.	false
+478659d326ac489f4ddf54e096ed1eb9b64b4d77	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of @PHENOTYPICFEATURE$ associated with overgrowth and @DISEASE$.	false
+62bc89520f01e0ec9844ccdbbe084a5790efedb0	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+eac7e42cbee9aa4815aeabb3b7d09ae5051d998b	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan @DISEASE$), a syndromic form of @PHENOTYPICFEATURE$ associated with overgrowth and macrocephaly.	false
+1129fb13646cdfa8c1a9404b5e652fa04e8b1126	@DISEASE$: mental retardation, @PHENOTYPICFEATURE$, and distal transverse limbs defects.	has_symptom
+4208c25959ce08f3f7323cfc27e51598e73ee475	@DISEASE$: @PHENOTYPICFEATURE$, spasticity, and distal transverse limbs defects.	false
+4e849ad35e71d74a4e28d541701d20d373b63965	Jancar syndrome: @PHENOTYPICFEATURE$, @DISEASE$, and distal transverse limbs defects.	false
+a24e5a2cc82bf911c62f23493f3ea694ac2b9c1a	Only 5% of patients with @DISEASE$ and an associated pop-off mechanism will develop @PHENOTYPICFEATURE$ as opposed to 40 % of patients with PUV without a protective factor.	has_symptom
+740af1af2d419b4a9bf54c288427e0c2c0e5bb3a	Furthermore, these adult patients with @DISEASE$ might have risk factors for sexual and fertility dysfunctions later in life, such as cryptorchidism, @PHENOTYPICFEATURE$ and abnormal posterior urethra.	has_symptom
+fb8a5e767b94837f6d8ac7deb6c0b8dbf5527169	Our aims were to assess outcomes of @DISEASE$ patients, to determine whether vesicoureteral reflux (VUR) is a risk factor for progression to @PHENOTYPICFEATURE$, and to identify other risk factors for poor outcomes.	has_symptom
+2c75f5037e04be540e5640190f3a3d0d13b1d44e	Here, it was hypothesised that the progression to early @PHENOTYPICFEATURE$ in @DISEASE$ patients may be influenced by genetic aberrations.	has_symptom
+4e8e1ca51a840dfefed066a9c99e903a6dcbfeaa	In order to identify risk factors for the progression of this condition to early @PHENOTYPICFEATURE$, we have retrospectively analyzed the clinical course, renal function, and first postnatal renal ultrasound in a sample of 42 young male patients with @DISEASE$, who were followed at a single center.	has_symptom
+6d73368061978f79a8336db134e8a8d9e6d7fe2e	@DISEASE$ is a rare @PHENOTYPICFEATURE$ autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK).	has_symptom
+d79fcde74cc0ee69bfd56792d7d08869f488fee9	We performed linkage analysis with chromosomal markers representing the hereditary sensory neuropathy type I and @DISEASE$ loci on an Italian family with a severe distal sensory loss leading to an ulcero-mutilating @PHENOTYPICFEATURE$.	has_symptom
+fe7e19c5f17864682626318139d2a213fc3e4d17	Missense mutants in the late endosomal Rab7 GTPase cause the autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ (CMT2B).	has_symptom
+a0654aa1424bc753b16ff38c4707bba9687d4298	The diagnosis of @DISEASE$ was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, @PHENOTYPICFEATURE$ or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes.	has_symptom
+2434ad7ff5d1f4f0a1f5a3b50b30d5874f11f239	The diagnosis of @DISEASE$ was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or @PHENOTYPICFEATURE$, with or without mutation in CLCN5 or OCRL1 genes.	false
+9bbf02ae4ad4a4d19e783fee37aecd3d2e6ac478	The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight @DISEASE$, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or @PHENOTYPICFEATURE$, with or without mutation in CLCN5 or OCRL1 genes.	false
+6ed53bb2c27924225cff2e15f7957ffa213873ca	The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, @DISEASE$ or @PHENOTYPICFEATURE$, with or without mutation in CLCN5 or OCRL1 genes.	false
+b57eecbaab822f470fc85bc685d0d607bd48a3ac	@DISEASE$ is a multisystemic inflammatory disease characterized with recurrent oral ulcer, @PHENOTYPICFEATURE$, and multiple organ involvement.	has_symptom
+f5c3513444c89d40e9e02b46f613f18d4cdd2de2	Behcets disease is a multisystemic @DISEASE$ characterized with recurrent @PHENOTYPICFEATURE$, genital ulcer, and multiple organ involvement.	false
+eadbfa27bff7b5191b15940dc83cf819f2c3cbe4	Behcets disease is a multisystemic inflammatory disease characterized with recurrent @PHENOTYPICFEATURE$, @DISEASE$, and multiple organ involvement.	false
+8863674c216ac6851321002cae4229b2beba68dc	@DISEASE$ is a multisystemic inflammatory disease characterized with recurrent @PHENOTYPICFEATURE$, genital ulcer, and multiple organ involvement.	false
+9f4969f88ce8a5d746f4356519c3bb16220e52a7	@DISEASE$ is a systemic inflammatory vascular disorder characterized by recurrent oral and @PHENOTYPICFEATURE$, eye lesion, arthritis and skin lesions.	has_symptom
+7083cb6c504725e0c09886795f06fe3a4b66e98b	@DISEASE$ (BS) is a clinical entity characterized by the appearance of recurrent oral and @PHENOTYPICFEATURE$, in addition to a broad spectrum of clinical manifestations.	has_symptom
+d5d889e2081d52dc84ffd825fba90662c46398c1	Although arthritis and intestinal symptoms are common in @DISEASE$, the arthritis is not usually thought of as a colitic arthropathy because of the prominence of other signs, such as oral and @PHENOTYPICFEATURE$ and eye involvement.	has_symptom
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+daed5a8ac235a921232c3c6448d7f4a0046364f5	The adult form of @DISEASE$ manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and @PHENOTYPICFEATURE$.	has_symptom
+2c601098046838315efbc70bac6abe2a6ae85dc4	Patients with @DISEASE$ exhibit hypopigmentation of the skin, eyes and hair, prolonged bleeding times, easy bruisability, recurrent infections, abnormal NK cell function and @PHENOTYPICFEATURE$.	has_symptom
+3994fdc22dbc1bbcecdf0234d753dbf82d0ab94b	Patients with CHS exhibit @PHENOTYPICFEATURE$, eyes and hair, prolonged bleeding times, easy bruisability, recurrent infections, abnormal NK cell function and @DISEASE$.	false
+749e04d36e45bc9ad1bf95118e3d8291b646a998	Patients with @DISEASE$ exhibit @PHENOTYPICFEATURE$, eyes and hair, prolonged bleeding times, easy bruisability, recurrent infections, abnormal NK cell function and peripheral neuropathy.	false
+d57c5fdc5a0a9ffcb5c31686a46b1a80990cacd8	The @DISEASE$: electrophysiological and electron microscopic observations on the @PHENOTYPICFEATURE$.	has_symptom
+2367d75d4fb7771a32327be61db6caacb374641f	Neurological manifestations of @DISEASE$ mainly include?@PHENOTYPICFEATURE$, ataxia, tremors, cranial nerve palsies, intellectual decline and seizures.	has_symptom
+66d397e4afdf7a7121a26937dd22b21a947fb72b	Neurological manifestations of @DISEASE$ mainly include?peripheral neuropathy, @PHENOTYPICFEATURE$, tremors, cranial nerve palsies, intellectual decline and seizures.	false
+f8a1325c71855e365315858a3828bb81db1f6011	Neurological manifestations of Chediak-Higashi syndrome mainly include?@DISEASE$, @PHENOTYPICFEATURE$, tremors, cranial nerve palsies, intellectual decline and seizures.	false
+4b09d00281fd7ad89123a944f0e7730516ffe655	Neurological manifestations of @DISEASE$ mainly include?peripheral neuropathy, ataxia, tremors, cranial nerve palsies, intellectual decline and @PHENOTYPICFEATURE$.	false
+b90734347e3ca0c93621ab7f7cc66918faa64998	Neurological manifestations of Chediak-Higashi syndrome mainly include?@DISEASE$, ataxia, tremors, cranial nerve palsies, intellectual decline and @PHENOTYPICFEATURE$.	false
+4e761e530ca45dceea9bc0e2055565f869c8c29f	A small number of reports of rare, attenuated forms of @DISEASE$ exist, with affected individuals exhibiting progressive neurodegenerative disease beginning in early adulthood with cognitive decline, parkinsonism, features of spinocerebellar degeneration, and @PHENOTYPICFEATURE$, as well as subtle pigmentary abnormalities and subclinical or absent immune dysfunction.	has_symptom
+4769aa35bf8ea8b1a237b72b7a712408dae6c558	Improvement of @PHENOTYPICFEATURE$ with oral prednisolone in @DISEASE$.	has_symptom
+4b25fa260adfc63555e672f90ccd4376de9e08fa	The @PHENOTYPICFEATURE$ deformity associated with Weber type I @DISEASE$, a rare congenital disorder, is rigid and difficult to correct.	has_symptom
+15d5149f9cad6135a173515374ba5deda8ee7f70	Correction of @PHENOTYPICFEATURE$ deformity associated with Weber type I @DISEASE$ using the Ponseti method.	has_symptom
+a3d9f7a6bc84ad14d75128c6de70653b8a39f340	The latter can have implications for the treatment of Parkinson's disease and other neurodegenerative diseases (Alzheimer's disease, Friedreich @PHENOTYPICFEATURE$, @DISEASE$, Hallervorden Spatz syndrome) where abnormal iron accumulation in the brain is thought to be associated with the degenerative processes.	has_symptom
+e5ae84c030c519cd2c4f528bbee6c8b2dae909cd	The main conditions combining diabetes and @PHENOTYPICFEATURE$ are Friedreich ataxia, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, @DISEASE$, and cerebellar ataxia associated with hypogonadism (especially Holmes ataxia/Boucher-Neuh?user syndrome).	has_symptom
+00a6b4e84b30e81ea80da1521a85e822d359886b	The main conditions combining diabetes and cerebellar ataxia are Friedreich ataxia, @PHENOTYPICFEATURE$ associated with anti-GAD antibodies, autoimmune polyglandular syndromes, @DISEASE$, and cerebellar ataxia associated with hypogonadism (especially Holmes ataxia/Boucher-Neuh?user syndrome).	has_symptom
+69ff325c646697a185fb3e36ec6d71de60dfc593	The main conditions combining diabetes and cerebellar ataxia are Friedreich ataxia, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, @DISEASE$, and @PHENOTYPICFEATURE$ associated with hypogonadism (especially Holmes ataxia/Boucher-Neuh?user syndrome).	has_symptom
+7cac949b59a6bcddce7a83936a9809932121c704	The main conditions combining diabetes and cerebellar ataxia are Friedreich @PHENOTYPICFEATURE$, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, @DISEASE$, and cerebellar ataxia associated with hypogonadism (especially Holmes ataxia/Boucher-Neuh?user syndrome).	has_symptom
+bfe602de0031200506fd8bd4164e7286ad56c509	The main conditions combining diabetes and cerebellar ataxia are Friedreich ataxia, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, @DISEASE$, and cerebellar ataxia associated with hypogonadism (especially Holmes @PHENOTYPICFEATURE$/Boucher-Neuh?user syndrome).	has_symptom
+4cd9bca4a5f66f7f16eec4a83ee41b1762f8be2f	[A case of @DISEASE$ presenting as @PHENOTYPICFEATURE$ with homozygous mutation nt2602 delG].	has_symptom
+768a01bc21fe42e6990fa74ae8acedc50f113a7c	The conditions considered are Friedreich @PHENOTYPICFEATURE$ (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), @DISEASE$, and neuroferritinopathy.	has_symptom
+e5d4095474bbc37d4c315d2dd86e52f8dc7cea3f	Many of these disorders are characterized by iron overload and include relatively common diseases such as hereditary hemochromatosis, rare abnormalities of plasma protein synthesis (atransferrinemia and @DISEASE$), and the neuromuscular disease Friedreich @PHENOTYPICFEATURE$.	has_symptom
+d119d113b0f161f370257e56fb9721827a94654a	For example, retinal degenerations have been found in hereditary iron overload disorders, like @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, and pantothenate kinase-associated neurodegeneration.	has_symptom
+e9e5353bda555fa938c1c065012ff8813185e4c3	@DISEASE$ is characterized by diabetes, retinal degeneration, and progressive neurological symptoms, including extrapyramidal symptoms, @PHENOTYPICFEATURE$, and dementia.	has_symptom
+fb5bafb5044b368ee8e3026e0326345bebe857c9	@DISEASE$ is characterized by diabetes, @PHENOTYPICFEATURE$, and progressive neurological symptoms, including extrapyramidal symptoms, ataxia, and dementia.	false
+89262aab6734be81ee96886de1ba89fdb3651dc0	Aceruloplasminemia is characterized by diabetes, @PHENOTYPICFEATURE$, and progressive neurological symptoms, including extrapyramidal symptoms, ataxia, and @DISEASE$.	false
+476d20b414756ae572802085c7d5f28540660611	Aceruloplasminemia is characterized by diabetes, @PHENOTYPICFEATURE$, and progressive neurological symptoms, including extrapyramidal symptoms, @DISEASE$, and dementia.	false
+7f333a8bfdb3edfbbb7d399f0df15708b93e8938	Hereditary diseases such as @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, pantothenate kinase-associated neurodegeneration, and posterior column ataxia with retinitis pigmentosa involve retinal degeneration associated with iron dysregulation.	has_symptom
+30c16049853b9d80370df65621b3814088587bee	@DISEASE$ is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as @PHENOTYPICFEATURE$, extrapyramidal signs and dementia.	has_symptom
+5a1a2257b4ca0ac161aa7239f0289a3cb6333158	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and @PHENOTYPICFEATURE$, such as @DISEASE$, extrapyramidal signs and dementia.	false
+cc95b278cd0f466bc25555a9210df2f796a91760	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$, such as cerebellar ataxia, extrapyramidal signs and dementia.	false
+a73f494eb593893bc6bb17fdb3ab5c86fcffe6bb	Aceruloplasminemia is a rare @DISEASE$ first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and @PHENOTYPICFEATURE$, such as cerebellar ataxia, extrapyramidal signs and dementia.	false
+f65f04ff39254e3b8efe13721633301c78e9b53b	@DISEASE$ is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and @PHENOTYPICFEATURE$, such as cerebellar ataxia, extrapyramidal signs and dementia.	false
+87081ea7af04d5a23cda76165ea12c15f1309882	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and @PHENOTYPICFEATURE$, such as cerebellar ataxia, extrapyramidal signs and @DISEASE$.	false
+bbd8feeabae9a966b60107ff634091430e5ba25e	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by @DISEASE$, retinal degeneration and @PHENOTYPICFEATURE$, such as cerebellar ataxia, extrapyramidal signs and dementia.	false
+4c14018a6eb317cd0d3649ae093cfbfadca0e225	Retinal iron buildup resulting from hereditary iron homeostasis disorders @DISEASE$, Friedreich's @PHENOTYPICFEATURE$, and panthothenate kinase-associated neurodegeneration cause retinal degeneration.	has_symptom
+dfe8e31f4099fb7cfa08f07ec3e55907d65e1343	Retinal iron buildup resulting from hereditary iron homeostasis disorders @DISEASE$, Friedreich's ataxia, and panthothenate kinase-associated neurodegeneration cause @PHENOTYPICFEATURE$.	false
+d98e22e702e13c95f5afbe1eecd78449317f2773	Retinal iron buildup resulting from hereditary iron homeostasis disorders aceruloplasminemia, Friedreich's @DISEASE$, and panthothenate kinase-associated neurodegeneration cause @PHENOTYPICFEATURE$.	false
+21bf1b18a7df302ae162c1197e3479ca13fb1740	Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/heart failure, arterial @PHENOTYPICFEATURE$, or pulmonary hypertension, but also as @DISEASE$ (Takotsubo syndrome, TTS).	has_symptom
+ef00d1dcf6b96aad07fe7ad11036692719561e04	Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/heart failure, arterial @PHENOTYPICFEATURE$, or pulmonary hypertension, but also as stress cardiomyopathy (@DISEASE$, TTS).	has_symptom
+d2c16d9069084cd791cb654fab12ab6a9c63f40e	Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/@PHENOTYPICFEATURE$, arterial @DISEASE$, or pulmonary hypertension, but also as stress cardiomyopathy (Takotsubo syndrome, TTS).	false
+9b93c3824a3a61a9e304ce69fbf549d8d8115400	Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/@PHENOTYPICFEATURE$, arterial hypertension, or pulmonary hypertension, but also as @DISEASE$ (Takotsubo syndrome, TTS).	false
+f23939a4952d186dc7f9acee2a2d4b70a0dfb8df	Affection of the heart may manifest not only as arrhythmias, myocardial infarction, autonomic impairment, systolic dysfunction/@PHENOTYPICFEATURE$, arterial hypertension, or pulmonary hypertension, but also as stress cardiomyopathy (@DISEASE$, TTS).	false
+036696c31804738250b02b596becc6165366a1a7	There were other conditions, including @PHENOTYPICFEATURE$ left ventricular hypertrophy (9%), post-open heart surgery (7%), sigmoid septum (4%), hyperkinetic LV (3%), @DISEASE$ (1.5%), and discrete subaortic membrane (1.5%).	has_symptom
+4cda247415e4f433ff427020448dc8baffaad7c3	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	has_symptom
+c99b9d6ab395d08dd37581934df9556ed78850a1	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @DISEASE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+1a075f9342d951b8f9c783a70c9dcd7b03749876	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+dedcea3729da3567ca867847c1c6bd3f3bd4dc6c	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+6e0d33e7f4eec4c3db3aa7e89bd7fc8bcba6d3d2	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, @DISEASE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+0d73109e2da6a98d6edf7d967be3e1d814fc6174	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @DISEASE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+cba219552f9019f330779c4fac2d7b1bbc76f8ad	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @DISEASE$, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+23593b4b27868e727f5241b9ff3942d47205f6a0	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+2fbb24ffe8398b69b828f29f0f843ff74853a34e	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @DISEASE$, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+362cc9ca3a14547e76d79afe8cc8481462ca19ac	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+362024cd43995d25670b060c47b30f3ea911d7a9	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+5b3a40d9872de0bae551a890e3aaa6e5b1c14a0e	(Muscular dystrophy-dystroglycanopathy @DISEASE$ (MDDGC9) is the rarest type of autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+bd8e9b3151e6f68fdc94c6e119be04c1220aa0fc	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and dysmorphic features in addition to the clinical features of DPF.	has_symptom
+e767d0f438f56b877ff7cb80a45a7e531afdd434	The phenotype of @DISEASE$ syndrome includes severe microcephaly and growth deficiency, central nervous system anomalies, @PHENOTYPICFEATURE$, mild physical anomalies, and predisposition to cancer.	has_symptom
+8af2e41e05f55734e644396c75746599679b890c	The phenotype of MVA syndrome includes severe @PHENOTYPICFEATURE$ and growth deficiency, central nervous system anomalies, mental retardation, mild physical anomalies, and predisposition to @DISEASE$.	false
+d7dbee2215229215c9c0665393b5249eb4793f3e	The phenotype of MVA syndrome includes severe @PHENOTYPICFEATURE$ and growth deficiency, central nervous system anomalies, @DISEASE$, mild physical anomalies, and predisposition to cancer.	false
+b1b77f8531c9695c225534e8ab2f8900cab5971b	The phenotype of @DISEASE$ syndrome includes severe @PHENOTYPICFEATURE$ and growth deficiency, central nervous system anomalies, mental retardation, mild physical anomalies, and predisposition to cancer.	false
+dca695aebcc8acd686a0a1e4abcdc707d72c98b5	The phenotype of MVA @DISEASE$ includes severe @PHENOTYPICFEATURE$ and growth deficiency, central nervous system anomalies, mental retardation, mild physical anomalies, and predisposition to cancer.	false
+935648c4e2435485fc0a2d3b6ffe6a23564118b7	The phenotype of mosaic variegated aneuploidy (@DISEASE$) syndrome is characterized by severe microcephaly, growth deficiency, @PHENOTYPICFEATURE$, and mild physical anomalies.	has_symptom
+ff10701c4ba33d43b1ddc279a6d7b6451e77104a	The phenotype of mosaic variegated aneuploidy (MVA) @DISEASE$ is characterized by severe @PHENOTYPICFEATURE$, growth deficiency, mental retardation, and mild physical anomalies.	false
+b595be64826c3becac3b5a4e6f715de4706532de	The phenotype of mosaic variegated aneuploidy (MVA) syndrome is characterized by severe @PHENOTYPICFEATURE$, growth deficiency, @DISEASE$, and mild physical anomalies.	false
+3516f37df685ed764316dfb3b6911ebbbbd0c574	The phenotype of mosaic variegated aneuploidy (@DISEASE$) syndrome is characterized by severe @PHENOTYPICFEATURE$, growth deficiency, mental retardation, and mild physical anomalies.	false
+a04d7cfddc224b1072dba5243f2f3f98eb6a1880	Pituitary apoplexy, @DISEASE$, myxedema coma, thyroid storm, acute @PHENOTYPICFEATURE$ and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	has_symptom
+9eeed1bc95badb61d244f2404bc43645e4f04c21	Pituitary apoplexy, adrenal crisis, myxedema @PHENOTYPICFEATURE$, thyroid storm, acute @DISEASE$ and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+939cc5d9b7c8cbc4471def8f3773462a4c2e22d9	Pituitary apoplexy, @DISEASE$, myxedema @PHENOTYPICFEATURE$, thyroid storm, acute hypercalcemia and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+e900b32bcd195ec2f1a8a4ad5c4ea60a39f7aece	Pituitary apoplexy, adrenal crisis, myxedema @PHENOTYPICFEATURE$, thyroid storm, acute hypercalcemia and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and @DISEASE$ hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+0c2371db7b9341b702089b057fafd1d9df26290e	Pituitary apoplexy, adrenal crisis, @DISEASE$ coma, thyroid storm, acute hypercalcemia and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+02449d218264efbcac444a0c1be6d9a959d2e640	Pituitary apoplexy, adrenal crisis, myxedema @PHENOTYPICFEATURE$, thyroid storm, acute hypercalcemia and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute @DISEASE$ are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+dded259b5ec433d1bd31315e753b99e1932048f0	Pituitary apoplexy, adrenal crisis, myxedema coma, thyroid storm, acute hypercalcemia and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and @DISEASE$ hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+d13d36daf1037351646ec6220994aa83f2077911	Pituitary apoplexy, adrenal crisis, @DISEASE$ @PHENOTYPICFEATURE$, thyroid storm, acute hypercalcemia and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+2a7f3649906e8369a27641cc1de212320fa37e06	Pituitary apoplexy, adrenal crisis, myxedema coma, thyroid storm, acute @DISEASE$ and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+6d6a8e85cfe3a95d025683f8b36888423abb3e0f	Pituitary apoplexy, @DISEASE$, myxedema coma, thyroid storm, acute hypercalcemia and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+a6b3cffc280983fad53ee8a6008403a062d70f77	Pituitary apoplexy, adrenal crisis, myxedema coma, thyroid storm, acute hypercalcemia and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute @DISEASE$ are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+b1515cc998f8269d1faecd558983c98084be6366	In individuals with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, the @DISEASE$ syndrome should be considered even in the differential diagnosis in the absence of cardiomyopathy or 3-methylglutaconic aciduria.	has_symptom
+0dc1a138a1eba17c336ce5819bcac76f90489e2d	We describe a new patient with @DISEASE$ syndrome presenting with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, and dilated cardiomyopathy.	has_symptom
+f6bf9145bfac61a632b16b7422b56b5cde7f9e35	@DISEASE$: a rare cause of neonatal @PHENOTYPICFEATURE$.	has_symptom
+ef927c0c835b8066479efb48a598ecfbf5864db0	The @DISEASE$ may be associated with severe bilateral ocular malformations including @PHENOTYPICFEATURE$, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia.	has_symptom
+74824528fc96b1273e460417f668f558e0f44a23	The @DISEASE$ may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+a36b45a5e64caef5bab9ff8e1fa789af1349da11	The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, @DISEASE$, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+b9e59207fdca40b26e66f547743140f2080c9312	The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including @DISEASE$, sclerocornea, corneal staphyloma, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+7e392780031e4417870bf80f9aa6d1eb6e0b9afb	Allogeneic bone marrow transplantation has been used as a therapeutic approach for @DISEASE$ patients with serious @PHENOTYPICFEATURE$ with mixed results.	has_symptom
+c79f3f0bbfef0b5b7dd784a25caee611d8de4497	@PHENOTYPICFEATURE$ in @DISEASE$: lack of genotype-phenotype relationship.	has_symptom
+3d00005bc9aaae0e538a4a879a003db466f5cf3a	We suggest that the Orc1 mutations present in some @DISEASE$ patients contribute to the pronounced @PHENOTYPICFEATURE$ and dwarfism observed in these individuals by altering centrosome duplication in addition to DNA replication defects.	has_symptom
+9d353ae028b16f47064f13cf481835e513216f48	Recessive mutations in ORC1, ORC4, ORC6, CDT1 or CDC6 of the preRC in human cause @DISEASE$ (MGS) that is characterized by impaired post-natal growth, short stature and @PHENOTYPICFEATURE$.	has_symptom
+6881405158a54fa6a60f83f92a44369024b7ea29	Recessive mutations in ORC1, ORC4, ORC6, CDT1 or CDC6 of the preRC in human cause @DISEASE$ (MGS) that is characterized by impaired post-natal growth, @PHENOTYPICFEATURE$ and microcephaly.	false
+749d9f7ce97af88d41d4a9f4a35dc0baaf202c14	Recessive mutations in ORC1, ORC4, ORC6, CDT1 or CDC6 of the preRC in human cause Meier-Gorlin syndrome (MGS) that is characterized by impaired post-natal growth, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6590a1534887a90a54e385fb0e049c0200d67800	Seckel Syndrome is characterised by @PHENOTYPICFEATURE$ and growth delay, features also displayed by several related disorders including Majewski (microcephalic) osteodysplastic primordial dwarfism (MOPD) type II and @DISEASE$ (MGS).	has_symptom
+ceca2fbd10dc82308db0eee76e52c57cb3e2081e	Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause @DISEASE$ (MGS), a disorder conferring @PHENOTYPICFEATURE$, primordial dwarfism, underdeveloped ears, and skeletal abnormalities.	has_symptom
+d4a6157fcfb26da9a1f462b76e31221c4af03bfd	Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause @DISEASE$ (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and @PHENOTYPICFEATURE$.	false
+8287ce998f1fa24573e6fa7a0d436a8ed8442129	Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring @DISEASE$, primordial dwarfism, underdeveloped ears, and @PHENOTYPICFEATURE$.	false
+117889ee16ffcfd9bfc3de819d0a0313dd58e0ca	@DISEASE$ is a rare autosomal-recessive condition characterized by early hyperpnea and @PHENOTYPICFEATURE$, developmental delay, and truncal ataxia.	has_symptom
+3a551091ea464d885bc4f36b8ed8fd63615737bc	@DISEASE$ (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+2393a305079d3fe57b351470647e58fdf812166a	Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and @PHENOTYPICFEATURE$, hypotonia, episodic hyperapnea and @DISEASE$ and mental retardation.	false
+496684853ad5d67561bb93c6110544d3f12f1056	Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6659102f514385ed2e5051cc3a2dd8565fa51b20	@DISEASE$ (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and @PHENOTYPICFEATURE$.	false
+00c8236e36f6af59abf5633b1f63d0ce42831555	@DISEASE$ (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and @PHENOTYPICFEATURE$, hypotonia, episodic hyperapnea and apnea and mental retardation.	false
+0db64ae3ccfc53e6656bf2ac63f30bec5b638dbf	@DISEASE$ is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic @PHENOTYPICFEATURE$-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation.	has_symptom
+4fd50c874e7cbbcc43d69ad68cf5518a1ef64068	Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic @DISEASE$-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+cde985bbb41b38a3aaec9bcce91e7d48b0fb2959	@DISEASE$ is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, @PHENOTYPICFEATURE$, hypotonia, ataxia, and psychomotor retardation.	false
+5f20f5471c3fc7b0daf86ecc1c8e353aeeca7ac4	@DISEASE$ is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+0bbb85887f82ebf1853f7dbcfddd752c2f6b7be0	Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic @DISEASE$-hyperpnoea, rhythmic protrusion of the tongue, @PHENOTYPICFEATURE$, hypotonia, ataxia, and psychomotor retardation.	false
+4c926f42b52b042a8885a451c961e491d9eed1cf	Joubert syndrome is an @DISEASE$ characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, @PHENOTYPICFEATURE$, hypotonia, ataxia, and psychomotor retardation.	false
+40063ea1bbc5b6a7fe1a961beb1bf02f7fc25376	Joubert syndrome is an @DISEASE$ characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+8204f85e001404deb8a1b67058672be53ff96228	@DISEASE$ (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations.	has_symptom
+18ed978bce3e570b88d7413c60c8f0236807dc8a	Baraitser-Winter syndrome (@DISEASE$, type 3) is a rare developmental disorder typified by hypertelorism, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+48c79105117496620b3631f9fdd126373ac36306	Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @DISEASE$, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+44e216ed36f29f2b4001ce75c982b77771172703	@DISEASE$ (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+b920b3cd083b26243f8464e9fcd7d081b1e1d07e	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: @DISEASE$ or Noonan syndrome?	has_symptom
+b3d8cd4dafc7a937415762ba33e5c6e91be64eac	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+f6a11d4a34a4f4427eb11ad09aa79e0b82658b77	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+876d61f45efb566cfd0e2b1b3f75add2080cf541	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: @DISEASE$ or Noonan syndrome?	false
+b25df4e9ca03a9b6b8fb2b52fe3193c3c1f5e513	Iris coloboma, ptosis, @DISEASE$, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+563d5ee7186aa32dd9dd0c4df539cd4d0d987542	Iris coloboma, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?	false
+e5d3569ee2da0c8440f1e65166c9345cb5e4eb63	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or @DISEASE$?	false
+37f7ea3f1e87422be4764bb8778ea0bcc4d10537	@DISEASE$ was first described as a syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	has_symptom
+d27476904f4a912300facbe2cb44ad4a44dd7eaa	Baraitser-Winter syndrome was first described as a syndrome of iris @DISEASE$, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+5a9c9f5d06edc7d7f9da910c7f665369fc48fac7	Baraitser-Winter syndrome was first described as a syndrome of iris @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+24fff3150d96da5d2bc608a0a4ff357c876caa9b	@DISEASE$ was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+63fa8d4b9dd2fc82dba0f5ec44bcd9c05090118e	Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+143c75ad45ef96ba04e96d2a144f687007286281	@DISEASE$ was first described as a syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+9373947ca448414f8e7eb31761b7a1e87c770d8e	Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, @DISEASE$, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+047497597e58c09cb2ab554a2e78cb370727c5c9	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	has_symptom
+ee3c2467a7102fe0f6967bd3d4a1a5e58be19182	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple @DISEASE$ or a mental-retardation syndrome of unknown etiology.	false
+73c0830b4cb13cb54a06c878f5f8fc2d7c5384da	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @DISEASE$, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+fce05582d78226f5dfe4a907a971017181a557be	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+55040c387c30e46ea6cc8b8b9607254e17601566	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation @DISEASE$ of unknown etiology.	false
+37193de3f9fa98e36d9a6f52295e78681235cdf5	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+e24168ed285741c65b2c62ef880eb02469a35ef3	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation @DISEASE$ of unknown etiology.	false
+1d21403599c1a3612c74361105e32ae05c1c40e2	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ @DISEASE$ of unknown etiology.	false
+a581df267218e27baff9751e56a93de2811c31c5	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple @DISEASE$ or a mental-retardation syndrome of unknown etiology.	false
+357b3bd141c7da34c70d7922a4eb0ff82923da4b	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+24f3b8d7597a6282f503d0b906437de7be1e2b4a	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+c1b233d65b0bb7d1de15bd2b5815976bfe37149d	@DISEASE$ (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+277c1623a77c702d350d810e4aaa1f4921073da5	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @DISEASE$, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+fb1b0e4ba5afe77d00b1b52536ac70074dfb7f21	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+471723b48777c69d84fabe3469da3340f704060a	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+bfee987384992f4fa63fabd2f95469c16488ce0c	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple @DISEASE$ or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+b61e8c5a8c8008b1f7fa2a0319487b01b69bcadf	The syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	has_symptom
+0fb255d768eea135220830013d1628e01215fbd3	The syndrome of iris coloboma, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+db3eb227a9c34c56ece50e1b84b9e602d1668031	The syndrome of iris @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+45d5e8308a08290b44600acabb7ba38f5e945421	The syndrome of iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+a0fa45765958a8b9820a8bc5102b6b256a3e49c5	The syndrome of iris coloboma, ptosis, @DISEASE$, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+a34d39a5669d5c04c6974cbf77210af7d955d057	The syndrome of iris @DISEASE$, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+f3a418c812824195391c30a2afc2c79719695c6a	The syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+b302c4c12ce42efe47dd80ae03b15c02f96fc6b3	@PHENOTYPICFEATURE$ and agenesis of the corpus callosum with profound developmental delay: @DISEASE$, evidence for autosomal recessive inheritance.	has_symptom
+dffee235cab9c74da0da166aa0e8026c4397454d	Albinism and @PHENOTYPICFEATURE$ with profound developmental delay: @DISEASE$, evidence for autosomal recessive inheritance.	false
+2ffe0c0cd5bb14983ab8ee546859a0efac3b6932	@DISEASE$ and @PHENOTYPICFEATURE$ with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.	false
+eb73149341b4704f494d6141b7fde48e9b706d1e	Sister and brother with @DISEASE$: agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and recurrent infections.	has_symptom
+400faf12fc24a9fd735ed82fe1319c3aa2982467	Sister and brother with @DISEASE$: @PHENOTYPICFEATURE$, albinism, and recurrent infections.	false
+ff18b55a596f4657e3811127f758534fe34e0374	Sister and brother with Vici syndrome: @PHENOTYPICFEATURE$, @DISEASE$, and recurrent infections.	false
+c08ac4cdcff60028d1e90cd868ac77dc315fb723	@DISEASE$ is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and developmental delays.	has_symptom
+9e433f50949c42ef268c6cc3516a54a4f46a9b49	@DISEASE$ is a rare congenital disorder characterized by albinism, @PHENOTYPICFEATURE$, and developmental delays.	false
+747ba03ab2f982b67f053b04ac9acc0c018348fb	Vici syndrome is a rare congenital disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and developmental delays.	false
+6d8f4d434dbe4c1fd2c3729a88cc13b4062082fa	The phenotypically heterogeneous, autosomal recessive @DISEASE$ was first described in 1988 in a sister and brother with oculocutaneous @PHENOTYPICFEATURE$, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency.	has_symptom
+f23f0f4b5943a57225965b2b317352ae5f853294	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, cleft lip, and @DISEASE$.	false
+449ca5a56e7e3497c4b995269291186e39c13f82	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, @PHENOTYPICFEATURE$, cataract, @DISEASE$, cleft lip, and immunodeficiency.	false
+89442d74dba1fd93355acdfc81d5b3b270873cce	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, @DISEASE$, and immunodeficiency.	false
+a4e8e578a8c97ecfe5b28851ee20ec74ff59b288	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, cleft lip, and @DISEASE$.	false
+293abeee8d24dce7aa2ae51db65c71bc8310a786	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, cleft lip, and immunodeficiency.	false
+9e56cb81e83c68446dd9d6f233352e99009cbf9f	The phenotypically heterogeneous, autosomal recessive @DISEASE$ was first described in 1988 in a sister and brother with oculocutaneous albinism, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, cleft lip, and immunodeficiency.	false
+31b6b2af4cd4dd9ee5d887da09370f0c12144b9c	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, and immunodeficiency.	false
+e47b1421c7c11fea869e0d83b863f29dd1e1a7ce	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous @DISEASE$, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, cleft lip, and immunodeficiency.	false
+cb14400603a831c87132119d3e1b77e22fd6c1df	The phenotypically heterogeneous, autosomal recessive @DISEASE$ was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, cleft lip, and immunodeficiency.	false
+013020bc6e95f41ab8f35bba0a108253676b49c0	The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous @DISEASE$, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, cleft lip, and immunodeficiency.	false
+02e6377560a2033709555c3e86f85ed60aaad50e	A 58-year-old Japanese woman presented with recurrent @PHENOTYPICFEATURE$, chronic urticaria, and petechiae on her extremities, and hypocomplementemia, findings that were consistent with @DISEASE$ syndrome (HUVS).	has_symptom
+4208c25959ce08f3f7323cfc27e51598e73ee475	@DISEASE$: @PHENOTYPICFEATURE$, spasticity, and distal transverse limbs defects.	has_symptom
+1129fb13646cdfa8c1a9404b5e652fa04e8b1126	@DISEASE$: mental retardation, @PHENOTYPICFEATURE$, and distal transverse limbs defects.	false
+16120a8e6beb4c4a28dea41efdfb85375c810bc5	Jancar syndrome: @DISEASE$, @PHENOTYPICFEATURE$, and distal transverse limbs defects.	false
+e724cbbc3aea3aef19c9a5925a3304c86b2d12b4	@DISEASE$ is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$ and distinct physical, behavioral, and psychiatric features.	has_symptom
+6bc8d019db6f66af127518cb539ffccfbde272cb	Preventing @PHENOTYPICFEATURE$ associated with gross obesity in the @DISEASE$.	has_symptom
+1436b07941c0de4bf9a95a3460ef1945f76e9edf	Preventing mental retardation associated with gross @PHENOTYPICFEATURE$ in the @DISEASE$.	false
+daeb2861c92c2f6c52522cf32b32fa61beacf26e	Preventing @DISEASE$ associated with gross @PHENOTYPICFEATURE$ in the Prader-Willi syndrome.	false
+3374800f42f97e4da26f521f305e9b2d0a302e3b	Maladaptive behavior in children with @DISEASE$, Down syndrome, and nonspecific @PHENOTYPICFEATURE$.	has_symptom
+c67e16bfebad8ddb37aa2028c456f2a735cbae87	Behavioral characteristics of @DISEASE$ in Korea: comparison with children with @PHENOTYPICFEATURE$ and normal controls.	has_symptom
+20417b8f1a1ef3b6eb102607490ea6bcf6a328f7	@DISEASE$ (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and @PHENOTYPICFEATURE$.	has_symptom
+312adb99c68470727dd9ee500f251cecd4630d1b	Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e091a27ba383611b73c425b4b4aca2f8bf7feba8	@DISEASE$ (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, @PHENOTYPICFEATURE$ and mental deficiency.	false
+9b3d97f6c95df9f57da973106355364f904eab92	@DISEASE$ (PWS) is the most common form of dysmorphic genetic obesity associated with @PHENOTYPICFEATURE$.	has_symptom
+479ce72ad883d21becdd6aedada15e8cafb890da	Differential diagnoses include @DISEASE$ and Alpha thalassaemia-@PHENOTYPICFEATURE$, X linked (ATR-X).	has_symptom
+a9a4bb9d8f32805b04e50be7d3b59ac21e99239e	Angelman's syndrome and @DISEASE$ are both causes of @PHENOTYPICFEATURE$ with recognisable, but quite different, clinical phenotypes.	has_symptom
+93e5c8b4a9ca8f309fabefb5fb4b3a8afa8ff113	Many with @DISEASE$ suffer with obesity and @PHENOTYPICFEATURE$].	has_symptom
+32872f144cd94475d9d64e978e8d028d71058055	Many with Prader-Willi syndrome suffer with @PHENOTYPICFEATURE$ and @DISEASE$].	false
+862cf7dab70e7c8520780b3f5dac028262f1bb86	Many with @DISEASE$ suffer with @PHENOTYPICFEATURE$ and mental retardation].	false
+f3bd555cf4db221757e95b30263aa23b6c80ecf4	These include the @DISEASE$ and X-linked @PHENOTYPICFEATURE$.	has_symptom
+838533d50ac74ae6c48bf0bad2f5b4e7ae5cdb17	Gastroesophageal abnormalities occur with increased frequency in patients with @DISEASE$ (BDLS) and contribute to problems with feeding, emesis and @PHENOTYPICFEATURE$.	has_symptom
+29c8355543518c4a2cd1d7192fad06cb44b97820	Gastrointestinal abnormalities: a significant cause of feeding difficulties and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+37ac182a816b7e5ce56786259db4fc02250474e4	@DISEASE$ is a genetic disease characterized by distinctive facial features, @PHENOTYPICFEATURE$, microcephaly and several malformations associated.	has_symptom
+ab230417445fb39ffb0e4d2b12bf870ac3186bc9	@DISEASE$ is a genetic disease characterized by distinctive facial features, failure to thrive, @PHENOTYPICFEATURE$ and several malformations associated.	false
+afdf15d271b1482a6c43d09e5ee95cfea975d2a0	Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, @DISEASE$, @PHENOTYPICFEATURE$ and several malformations associated.	false
+ce37ae96e083208e8aff1a5199a153b7f887e934	@DISEASE$ trauma: @PHENOTYPICFEATURE$ patients have a significant risk for injury.	has_symptom
+7e6d34c4679e98dffe250f28e107d2f8fbb363db	(1) @DISEASE$ FCD type 1b could represent a missing diagnosis in patients with SE-MISF in the absence of other causes for their @PHENOTYPICFEATURE$.	has_symptom
+18dc459bce5637c32a1af85bcb280befb6d8d9d4	Changes in @PHENOTYPICFEATURE$ frequency, severity, QOL, and side effects were retrospectively examined among adults, ?17?years of age, with DRE (?2 antiepileptic drugs [AEDs]), after 3?months of @DISEASE$ therapy.	has_symptom
+c07775a9a3c3f554be46bf6c7a864e19465f4372	Patients with @DISEASE$ and those with post-traumatic @PHENOTYPICFEATURE$, intracranial hemorrhage, petechial brain hemorrhages, and/or focal cortical contusions are at particular risk for serious pituitary dysfunction, including adrenal insufficiency and DI, and should be referred for neuroendocrine testing.	has_symptom
+3f87d7b2e742532ebc083baa0d604b663f2f6e30	Changes in @PHENOTYPICFEATURE$ frequency, severity, and quality of life (QOL) were retrospectively analyzed based on pre-MKD surgical history, type of epilepsy, imaging findings, and vagal nerve stimulation (VNS) history among adults, ?17?years of age, with DRE, receiving @DISEASE$ therapy for three months.	has_symptom
+48a01ff32b373b2aaacd140a8a180d0bd761463c	Constitutional mosaic aneuploidies, microcephaly, developmental delay and @PHENOTYPICFEATURE$, which are features of mosaic variegated aneuploidy (@DISEASE$) syndrome, were more variably present.	has_symptom
+6c4bca4d10c1a8d34e8ad2ab9ac5311eef7bf049	Constitutional mosaic aneuploidies, @PHENOTYPICFEATURE$, developmental delay and seizures, which are features of mosaic variegated aneuploidy (MVA) @DISEASE$, were more variably present.	false
+1c5721d23faf6416e7f3c6fd8b2f97b972d5f40b	Constitutional mosaic aneuploidies, @PHENOTYPICFEATURE$, developmental delay and @DISEASE$, which are features of mosaic variegated aneuploidy (MVA) syndrome, were more variably present.	false
+9783e76802cababf7097bac65355ce89dca308e7	Constitutional mosaic aneuploidies, @PHENOTYPICFEATURE$, developmental delay and seizures, which are features of mosaic variegated aneuploidy (@DISEASE$) syndrome, were more variably present.	false
+61d8f30f81246bd64adda9d925e8c642801f314f	This study evaluates the efficacy of a modified ketogenic diet (MKD) on @PHENOTYPICFEATURE$ frequency, severity, and quality of life (QOL), as well as potential complications of @DISEASE$ therapy among adults with drug-resistant epilepsy (DRE).	has_symptom
+72fb489ce5763cc2c7ffd94f9fdf0b27ea90c131	This study evaluates the efficacy of a modified ketogenic diet (@DISEASE$) on @PHENOTYPICFEATURE$ frequency, severity, and quality of life (QOL), as well as potential complications of MKD therapy among adults with drug-resistant epilepsy (DRE).	has_symptom
+1a3f74b636aba6d148cec165aae19fd3d29a2512	Mevalonate kinase deficiency in a child with @PHENOTYPICFEATURE$, hypotonia and @DISEASE$.	has_symptom
+8ea34bb0efd7af23309b6a0ef7fa7ce68164e301	@DISEASE$ in a child with @PHENOTYPICFEATURE$, hypotonia and mevalonic aciduria.	has_symptom
+541ae4ce76e8a3df4fdebd2d28c6f9eb684d2dd8	@DISEASE$ has been documented in an 8-year-old child who presented with @PHENOTYPICFEATURE$, hypotonia and mevalonic aciduria.	has_symptom
+a66284456755df5ffb98e61664bd79e4d08299e1	Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with @PHENOTYPICFEATURE$, hypotonia and @DISEASE$.	has_symptom
+ae49914734fdb6099d2cc78945540e81d4578205	@DISEASE$ associated with @PHENOTYPICFEATURE$ and retinitis pigmentosa in two brothers with MVK gene mutations.	has_symptom
+5a27cfc91ac8ce5ca5873aa3e7e0d08bd30e8062	@DISEASE$ is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, @PHENOTYPICFEATURE$, and dysmorphic features.	has_symptom
+95d8546ae4612610280b334951fefc5ab26148b7	Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of @PHENOTYPICFEATURE$ and inflammation, developmental delay, @DISEASE$, and dysmorphic features.	false
+cfdb91aa3890d3257bd709cda5e39bf0e06c5f14	@DISEASE$ is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of @PHENOTYPICFEATURE$ and inflammation, developmental delay, ataxia, and dysmorphic features.	false
+ae0bf8a669c32559939c9d4c6f494e89312734ba	Mevalonic aciduria is a rare, inborn @DISEASE$ of isoprene biosynthesis characterized by severe, periodic attacks of @PHENOTYPICFEATURE$ and inflammation, developmental delay, ataxia, and dysmorphic features.	false
+82e7364cb6d403b37e270e44bdabc3aba268b2f0	Allgrove or @DISEASE$ is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including @PHENOTYPICFEATURE$, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities.	has_symptom
+951d020f805a43fafcce31f8df83538bf170b530	Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including @DISEASE$, @PHENOTYPICFEATURE$, upper and lower motoneuron signs and various neuropathic abnormalities.	false
+617e28e99f0aa3b5252ccd4baadeec54476d5ec2	Allgrove or @DISEASE$ is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, @PHENOTYPICFEATURE$, upper and lower motoneuron signs and various neuropathic abnormalities.	false
+3b3026c7886f5f29058321d979191f06ced4d9bd	@DISEASE$ and 22 (SCA19/22) are rare conditions in which relatively isolated cerebellar involvement is frequently associated with @PHENOTYPICFEATURE$.	has_symptom
+3f2838bf3fbfeb3e99c54bfc7bd917237a2118dc	The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely @PHENOTYPICFEATURE$-cutis marmorata telangiectatica congenita (M-CMTC), @DISEASE$ (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149).	has_symptom
+107ed36962ab116fb135d85cea5dd23b2b4208cc	Case 1: A 4-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$ and severe developmental delay, was found dead with his head hanging over a wooden board attached to the side of his bed.	has_symptom
+48c5430170c9eb73d46c5b5e4dd1801ca11dd21a	The outlines of some new members, namely autosomal dominant cortical cerebellar atrophy linked to chromosome 16 (16q-ADCCA), SCA14, an @PHENOTYPICFEATURE$ caused by FGF14 mutation and a form of @DISEASE$ were described.	has_symptom
+de91b9342ca695788a743774e6640da062be2109	Other conditions, such as Friedreich's @PHENOTYPICFEATURE$ or @DISEASE$ are associated with genetic factors that cause Fe misregulation.	has_symptom
+3e7363586853a2f51daa01b18d152bd160a787ec	Conditions such as @DISEASE$ and Friedreich @PHENOTYPICFEATURE$ are associated with mutations in genes that encode proteins that are involved in iron metabolism, and as the brain ages, iron accumulates in regions that are affected by Alzheimer's disease and Parkinson's disease.	has_symptom
+b7ab6f3cc2e163b434d52b3ef97addf9ca729e77	The conditions considered are Friedreich @PHENOTYPICFEATURE$ (FA), pantothenate kinase 2-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), FA2H-associated neurodegeneration (FAHN), Kufor-Rakeb disease (KRD), aceruloplasminemia, and @DISEASE$.	has_symptom
+422f428547401bf6b11096bbf50b3dcf620cef55	Abnormally high brain iron, resulting from the disrupted expression or function of proteins involved in iron metabolism in the brain, is an initial cause of neuronal death in @DISEASE$ and aceruloplasminemia, and also plays a causative role in at least some of the other neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, Huntington's disease, and Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+2d92d58a3e800475708b42e6184851b7838a8d69	We report a family in which @DISEASE$ begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, @PHENOTYPICFEATURE$, pyramidal tract signs, and psychiatric symptoms.	has_symptom
+5bc542d25a86c70ad69494b3636e8e69a903bfe2	@DISEASE$ (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and @PHENOTYPICFEATURE$ such as spasticity and dystonia.	has_symptom
+718a9c283af47a08c95632c754005655df053c9b	Lesch-Nyhan syndrome (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8cb6933ff49f800f2d42a9a7fd1e43f679d6e205	@DISEASE$ (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as @PHENOTYPICFEATURE$ and dystonia.	false
+8fa634059f5f6dfbcedb16fe2636568213bf0244	Lesch-Nyhan syndrome (LNS) is an @DISEASE$ caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as @PHENOTYPICFEATURE$ and dystonia.	false
+f729f532ad2875a02e47d1229b4c44a8f73f0df5	Lesch-Nyhan syndrome (LNS) is an X-linked hereditary disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase. Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and @DISEASE$ such as @PHENOTYPICFEATURE$ and dystonia.	false
+0ca9d62dafb5d7422a1ca4644d398db1f3d396f6	@DISEASE$ (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic @PHENOTYPICFEATURE$, and compulsive self-injury with self-mutilation.	has_symptom
+6b3b91a5cd7e0a8a2e617e06abd910cad7c4c5ca	Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, @PHENOTYPICFEATURE$, a dystonic @DISEASE$, and compulsive self-injury with self-mutilation.	false
+d39e77170a95a62385d6f543165b51ba325557bd	@DISEASE$ (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, @PHENOTYPICFEATURE$, a dystonic movement disorder, and compulsive self-injury with self-mutilation.	false
+1559617c6e3e25e2bcf0864461e0549329f19db5	Lesch-Nyhan Syndrome (LNS) is a @DISEASE$ involving mutations in the HGPRT1 gene that result in hyperuricemia, @PHENOTYPICFEATURE$, a dystonic movement disorder, and compulsive self-injury with self-mutilation.	false
+3f44544edef88e318f4ffc7e493d3a558f495b60	Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, @PHENOTYPICFEATURE$, a @DISEASE$ movement disorder, and compulsive self-injury with self-mutilation.	false
+f13ef0c7380e506d9dcf2ecd6940ff12af4210a8	Selective @PHENOTYPICFEATURE$ and global intellectual deficits in alcoholic @DISEASE$.	has_symptom
+9f2c4276c788736ad5702b0988e079a3bf53a2d5	To characterize the functional aspect of prolactin (Prl) cells coexisting with corticotroph adenomas, pituitary adenoma cells obtained from a patient with Cushing's disease and a patient with @DISEASE$, who were associated with @PHENOTYPICFEATURE$, were cultured in monolayer and their Prl responses to various secretagogues were compared with those of prolactinoma cells in culture.	has_symptom
+bed6e5a8e02268d0f024f9ca86a4fe0d7bfbf689	We present the case of a 58 years old man to whom clinical presentation suspicious of @DISEASE$ (melanoderma, fatigue, @PHENOTYPICFEATURE$, intermittent abdominal pain) was the disguise of porphyria cutanea tarda.	has_symptom
+56128fff09e1c3fe95eae4c9b46c3bd562ea4bb2	A certain number of HIV-infected patients (about 17% in our series) manifest symptoms of cortisol resistance--weakness, @PHENOTYPICFEATURE$, hypertension, chronic fatigue and intense mucocutaneous melanosis--symptoms which are also typical of @DISEASE$.	has_symptom
+274f8abb98aa20c6235d85fd81243dafbc26a6f1	We present the case of a patient who initially was diagnosed as having Grave's disease and eventually @DISEASE$ due to persistent cutaneous hyperpigmentation, fatigue, @PHENOTYPICFEATURE$, hypotension, hyponatremia, peripheral eosinophilia, and positive results of a synthetic corticotropin stimulation test.	has_symptom
+9f438e8764a52088bb691ed402b6219b141d5152	We present the case of a patient who initially was diagnosed as having Grave's disease and eventually Addison's disease due to persistent @PHENOTYPICFEATURE$, fatigue, weight loss, @DISEASE$, hyponatremia, peripheral eosinophilia, and positive results of a synthetic corticotropin stimulation test.	false
+f568d31a98240dedefb2c26a63dacd491fec8f42	We present the case of a patient who initially was diagnosed as having Grave's disease and eventually @DISEASE$ due to persistent @PHENOTYPICFEATURE$, fatigue, weight loss, hypotension, hyponatremia, peripheral eosinophilia, and positive results of a synthetic corticotropin stimulation test.	false
+4e578e574c611ee9193a657e08ec7f2ffc7854f3	We present the case of a patient who initially was diagnosed as having Grave's disease and eventually Addison's disease due to persistent @PHENOTYPICFEATURE$, fatigue, @DISEASE$, hypotension, hyponatremia, peripheral eosinophilia, and positive results of a synthetic corticotropin stimulation test.	false
+c6aea8e45aadf549ba12d470ca052dfdce323d4c	In 1855, Thomas Addison described an illness now known as @DISEASE$ (AD) caused by damage to the adrenal cortex and manifesting in weakness, @PHENOTYPICFEATURE$, hypotension, gastrointestinal disturbances, and brownish pigmentation of the skin and mucous membranes.	has_symptom
+2b9f5b1c8978be9381ea2ef3962ffdc5f8962115	A 35-year-female presented with generalized weakness, @PHENOTYPICFEATURE$, and progressive pigmentation was worked up for suspicion of @DISEASE$.	has_symptom
+69925170493fb1a275a0cd2a8c87d23205ead264	We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with @DISEASE$ after having myalgia, skin hyperpigmentation, @PHENOTYPICFEATURE$, sweating, and nausea for the past few weeks.	has_symptom
+8d515b0d2d9cfb50b124b8d0c220138dc92a7fd5	We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with @DISEASE$ after having myalgia, @PHENOTYPICFEATURE$, weight loss, sweating, and nausea for the past few weeks.	false
+da0acb5ac352d0533ed5aecdf1fdc4737a26991e	We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with Addison's disease after having myalgia, @PHENOTYPICFEATURE$, @DISEASE$, sweating, and nausea for the past few weeks.	false
+1cd0557facec9ca8350f97751fd9bb54d58a732a	@DISEASE$ is a possible diagnosis in any patient who presents with weakness, @PHENOTYPICFEATURE$, hyperpigmentation, hyponatremia, and hypotension.	has_symptom
+4c6b8892978dfaef11347b5f82634dd0bfcc44e4	Primary adrenocortical insufficiency (@DISEASE$) is characterised by weakness, tiredness, fatigue, @PHENOTYPICFEATURE$, hypotension, hyperpigmentation and a craving for salt.	has_symptom
+79a50fdd58898f35a5ba0f168534f139080ea0cc	@DISEASE$ (Addison's disease) is characterised by weakness, tiredness, fatigue, @PHENOTYPICFEATURE$, hypotension, hyperpigmentation and a craving for salt.	has_symptom
+c8bea426eaf1177931f96430477a06427cb8864f	@DISEASE$ can be diagnosed and treated before development of anorexia, @PHENOTYPICFEATURE$, weakness and other classical symptoms.	has_symptom
+cd541d8acf03f20f4707f1246c2068d9e36a9ad8	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @PHENOTYPICFEATURE$, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	has_symptom
+865d072972dc2216d407612e0da9e6252d4afcb7	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @DISEASE$, down-turned mouth and retrognathia), @PHENOTYPICFEATURE$, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.	false
+908b11035192ea2216a3280b8a967b9df454a19a	A male newborn who had fetal face appearance (broad and prominent forehead, @PHENOTYPICFEATURE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, @DISEASE$, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as Robinow syndrome.	false
+85748c155046dbc373a56a0f8b5445a80efd612e	A male newborn who had fetal face appearance (broad and prominent forehead, hypertelorism, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), @PHENOTYPICFEATURE$, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	false
+19241dedc9706620815fbc7fa4671512846f1137	A male newborn who had fetal face appearance (broad and prominent forehead, @PHENOTYPICFEATURE$, small saddle nose, anteverted nostrils, glabellar nevus flammeus, malar hypoplasia, down-turned mouth and retrognathia), mesomelic limb shortening, hemivertebra and genital hypoplasia was diagnosed as @DISEASE$.	false
+6b18ea33a883433d58b0743fe5d092362af41c08	Enhanced repression by HESX1 as a cause of @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+9d285632fdb824091bb700feaa52a8203da359e4	CHD7 was sequenced in these and other patients with @DISEASE$/@PHENOTYPICFEATURE$.	has_symptom
+be54fb8464ea9e9da6f5a40437b9e3500f040f1c	Mutations within HESX1 are a rare cause of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1e13310797cbfa39f020a2c2f432cd5aa0fd2f8f	The highly variable phenotype may consist of isolated @PHENOTYPICFEATURE$, or more complex disorders such as @DISEASE$.	has_symptom
+2b3a23d6ded93a08a7720a9bbcac05de12b401a9	@PHENOTYPICFEATURE$ and @DISEASE$" in first cousins.	has_symptom
+3f831bbe04ce068f2ae88bd79d6b76ca7562c03b	The phenotype can be highly variable and may consist of isolated @PHENOTYPICFEATURE$, or more complex disorders such as septo-optic dysplasia (@DISEASE$) and holoprosencephaly.	has_symptom
+0f00106e032424e324d3ef867a0cc07fbc294f8e	The phenotype can be highly variable and may consist of isolated @PHENOTYPICFEATURE$, or more complex disorders such as @DISEASE$ (SOD) and holoprosencephaly.	has_symptom
+796e2095682352c1914d07991d787640e2c98822	Variations in PROKR2, but not PROK2, are associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7a105d52f72ac0bb823428edbb475918dede4b1f	The presence of bilateral optic nerve hypoplasia and @PHENOTYPICFEATURE$ led to the diagnosis of @DISEASE$.	has_symptom
+56dd3471dba6d1eb531a5cb7cac2bc2543d7f227	The highly variable phenotype may consist of isolated @PHENOTYPICFEATURE$, or more complex disorders such as septo-optic dysplasia (@DISEASE$) and holoprosencephaly.	has_symptom
+7bd3af6ca2ab78e7189218f4c86c304996a65d89	The highly variable phenotype may consist of isolated @PHENOTYPICFEATURE$, or more complex disorders such as @DISEASE$ (SOD) and holoprosencephaly.	has_symptom
+de2bab0e0e3f76ddc8e243f030a08777e920bb72	Sexual precocity in association with @DISEASE$ and hypothalamic @PHENOTYPICFEATURE$.	has_symptom
+58bad91173a8e211793420718b9cc0b4a6ca5bad	Namely, @DISEASE$, calcium sensing receptor mutations, familial hypopomagnesiemic @PHENOTYPICFEATURE$ (FHHNC), hypophosphatemic rickets (HHRH), renal tubular acidosis (dRTA), primary hyperoxaluria (PH), cystinuria, 2-8 dihydroxyadeninuria (2-8 DHA).	has_symptom
+6637aeeb59d9f3137c08657068040af9addfb18c	Severe attacks may occur in @DISEASE$ as well as in SHM with prolonged hemiplegia, confusion, coma, @PHENOTYPICFEATURE$ and seizures.	has_symptom
+44cadd130fdea69db50f4baa154ba9964d2df426	Severe attacks may occur in @DISEASE$ as well as in SHM with prolonged hemiplegia, confusion, coma, fever and @PHENOTYPICFEATURE$.	false
+d8e38471e395b699156465cb4c93a39a4ca323fd	Severe attacks may occur in FHM as well as in SHM with prolonged hemiplegia, confusion, coma, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3514a80c0bb98ae0ec9a562cd099df5a1b6b8a26	Here, we document a prospective 15-year follow-up of an extended family with @DISEASE$ type 2. Patients and methods After diagnosing FHM in a patient with severe attacks associated with coma and @PHENOTYPICFEATURE$, we identified eight more family members with FHM and one with possible FHM.	has_symptom
+6eae57022d5c726861b94533502aee08c74dac6f	Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. Patients and methods After diagnosing FHM in a patient with severe attacks associated with coma and @PHENOTYPICFEATURE$, we identified eight more family members with FHM and one with possible @DISEASE$.	has_symptom
+e8a71a0808c8a94909e70e2f862f46dca1c608f1	Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. Patients and methods After diagnosing FHM in a patient with severe attacks associated with coma and @PHENOTYPICFEATURE$, we identified eight more family members with @DISEASE$ and one with possible FHM.	has_symptom
+38154b951ed0cab12996c40ba5307e45c5ca25aa	Here, we document a prospective 15-year follow-up of an extended family with FHM type 2. Patients and methods After diagnosing @DISEASE$ in a patient with severe attacks associated with coma and @PHENOTYPICFEATURE$, we identified eight more family members with FHM and one with possible FHM.	has_symptom
+aa2f7556b360f4316b5e658843aad98b34f7b708	Severe intrauterine growth retardation was associated with phenotypic manifestations of @DISEASE$: diaphragmatic hernia, facial defects, and @PHENOTYPICFEATURE$ with short distal fifth phalanges.	has_symptom
+820a4d1814787b8638219b2c3ab9d4c3d71c3aa2	@DISEASE$ is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and @PHENOTYPICFEATURE$, and diaphragmatic hernia with pulmonary hypoplasia.	has_symptom
+3f50428206ff1e380e4a82c34fb54a21b02a9d44	She was presumed to have @DISEASE$ based on diagnostic criteria established for this recessive disorder with prominent features including CDH, facial anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+a46724dff6e783a4d247ea876db48f61cb0234ee	This study demonstrates that myocardial uptake and turnover of MIBG in patients with @DISEASE$ are heterogeneous and dependent on the presence or absence of congestive heart failure and cardiac @PHENOTYPICFEATURE$.	has_symptom
+ee208cadb36af2cfd741f3b0f4e97a91d26cf785	This study demonstrates that myocardial uptake and turnover of MIBG in patients with @DISEASE$ are heterogeneous and dependent on the presence or absence of @PHENOTYPICFEATURE$ and cardiac autonomic dysfunction.	false
+ffff361bcc4b6dcc3d42ab05efb9879903dab300	This study demonstrates that myocardial uptake and turnover of MIBG in patients with AL amyloidosis are heterogeneous and dependent on the presence or absence of @PHENOTYPICFEATURE$ and cardiac @DISEASE$.	false
+02e56b4db3fd5d0f4d1632de6a67367faa3eabcb	A new case of @DISEASE$ with angiokeratoma corporis diffusum, with M?ni?re's syndrome and without @PHENOTYPICFEATURE$.	has_symptom
+81415df3d923ed5ffedf89c0adec6b592fc361b8	Management of developmental @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+cb1d6a95ee2ef17a3caffeffada2dc117b42c6d5	[@DISEASE$ associated with congenital @PHENOTYPICFEATURE$; report of three cases].	has_symptom
+e3c403936cdbc3f07491c212bf0aef1dd43d42ee	We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (@DISEASE$) in association with @PHENOTYPICFEATURE$, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation.	has_symptom
+e6527e5c50d85af2e63e59121db92a9ac93b8696	We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (CMD) in association with @DISEASE$, proximal @PHENOTYPICFEATURE$, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation.	false
+2e9153cd27df88b318941e442eebece70a329954	We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of @DISEASE$ (CMD) in association with short stature, proximal @PHENOTYPICFEATURE$, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation.	false
+cf1b7b584d5b041df1eb0196ee3567106847304b	We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (@DISEASE$) in association with short stature, proximal @PHENOTYPICFEATURE$, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation.	false
+9d7bc5d72a808b189bea853696802cb82291872d	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the @DISEASE$ including 3-MGCA, @PHENOTYPICFEATURE$, encephalopathy and a brain magnetic resonance imaging with signs of Leigh disease.	has_symptom
+90e2a67465b2b03031180ff9a8fde5ad7008c87f	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, @DISEASE$, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+4517a4f47015b99033aba1c76a3a02ff97553091	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial @DISEASE$ consistent with the MEGDEL syndrome including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+1dea98e64c2fc20e9415ad1f961e4d5f3bd2e731	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of @DISEASE$.	false
+3923728b3c1455625dff1a3308d98a1c9e3d4fbe	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the @DISEASE$ including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+fd7837d996896fe2a770f35b67da90c3d64f1a9a	Infantile mitochondrial hepatopathy is a cardinal feature of @DISEASE$ (3-methylglutaconic aciduria type IV with @PHENOTYPICFEATURE$, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.	has_symptom
+3f9d72971ee071d7af3af2809723fc20c5a9d0d4	Infantile mitochondrial hepatopathy is a cardinal feature of @DISEASE$ (3-methylglutaconic aciduria type IV with sensorineural deafness, @PHENOTYPICFEATURE$ and Leigh-like syndrome) caused by novel mutations in SERAC1.	false
+d62d616d78113305e8034aea3397532e84dee4c3	Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with @DISEASE$, @PHENOTYPICFEATURE$ and Leigh-like syndrome) caused by novel mutations in SERAC1.	false
+88d0339824e886b560d441fe662684d553ce07d1	Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, @PHENOTYPICFEATURE$ and Leigh-like @DISEASE$) caused by novel mutations in SERAC1.	false
+4f027a6b14abef10096c03f07f941552dfa28c24	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	has_symptom
+93d39907f25cf5f32eb1ba8d6f38261e14e2afae	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @DISEASE$, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+c758d52fef3cb8e626f534eb3be08b5b8d89d8e9	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @DISEASE$, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	false
+3196e80188ed2156c527d14ce19fb906eb790fb7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+b90d82d41af3217038c93b2ecc089765c560dcef	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+d33b8d3e4b088f5636edc6f85ba965c93359481e	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @DISEASE$, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, microcephaly, and myoclonic epilepsy.	false
+54b42b23d81ea6df84b27d4183d08de0b33434da	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @DISEASE$, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+1cc662efbd6b93607d6c1db5595fed91a34428c7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	false
+5449a10eb7197005b664564eed1c7dbbaaaeae16	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, microcephaly, and myoclonic epilepsy.	false
+0e9286e30ce4fb686067e6954a339d52d88ea80d	@DISEASE$ (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, @PHENOTYPICFEATURE$, and cognitive impairment.	has_symptom
+9f5cea753fd994cc25641cd70ed9e56b6ca23649	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the @DISEASE$, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, @PHENOTYPICFEATURE$ and cognitive impairment.	has_symptom
+ae18b3437afe0a6342eeb68e86e9c7575ebf7e5b	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the @DISEASE$, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and @PHENOTYPICFEATURE$.	false
+731a12fa13f6f19a41403ef129b4a7aa27a3345e	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked @DISEASE$ (CMTX4) with axonal sensorimotor neuropathy, deafness and @PHENOTYPICFEATURE$.	false
+541dbb3c9d2a01e877b8fd572d457afa08702bda	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+716531ca2993615977a3eee0cebd1940d12bba93	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor @DISEASE$, deafness and @PHENOTYPICFEATURE$.	false
+3345b4e53c95fcf3564c1b01d9b1050937229be0	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with @DISEASE$ and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and @PHENOTYPICFEATURE$.	false
+0c1da550726926579272bd7ba4533d66b83353eb	@DISEASE$ (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with @PHENOTYPICFEATURE$ and cognitive impairment, is a rare subtype of Charcot-Marie-Tooth disease.	has_symptom
+b28efcfab4c465a8d7e0e2b8c35548204a80ccda	X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and @PHENOTYPICFEATURE$, is a rare subtype of @DISEASE$.	false
+cefbc1b7456f41942af02b649ff88547a16b29e1	X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with @DISEASE$ and @PHENOTYPICFEATURE$, is a rare subtype of Charcot-Marie-Tooth disease.	false
+ef21c11c57be1e7a9e20f1d6c368d28947ac6e6c	@DISEASE$ (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and @PHENOTYPICFEATURE$, is a rare subtype of Charcot-Marie-Tooth disease.	false
+732ee232b111a93a2725815a7521093634855cbf	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, @DISEASE$, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	has_symptom
+bc3eeb33b8ffd7a03605032119e392c1e07325b5	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+dd04d9ff4546317b80b8591e480d05c072b91b91	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, @DISEASE$, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+3fdf44f1b36d401d2d2a0d21b68d07cdc2a35051	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, @DISEASE$, and congenital Zika syndrome.	false
+d4c3ed9aae2fe1df763abd69fdf1a27831b4c13a	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+28342f9e0ac5a072f0393b95f0f067c4d23351cd	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, @DISEASE$, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+07af7d7b814c5a82a2d5be5a9b75d3c6045140f4	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, @DISEASE$, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+c48a9f74faca0dfc2d82f3e3c5d2724c0e0b05c3	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, @DISEASE$, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+f832e848bdf952d91222025da7f2986ac6423880	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, @DISEASE$, and congenital Zika syndrome.	false
+c8a82fc1a12ca834319677eedd4d63cebef4e640	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika @DISEASE$.	false
+71540f28542de6c594131601995a019820447188	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+b105bd5dcc586532cfcdf062f636361984533c3d	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika @DISEASE$.	false
+0a34c234a9189c7e1b9df91e74a2fd86cd1c2a37	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, @DISEASE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+aa4a7f6f7d0dbba47df8077cfd2c61499599b1a6	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @DISEASE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+c6e859dd9e56dc8538902520d7c73d9d15e3b111	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, @DISEASE$, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+155ea5bde29453379837c69def213217c67afcd0	Skin examination revealed typical Gottron's papules on the dorsa of the hands, atrophy, xerosis, @DISEASE$, photosensitivity, cutaneous, oral and nail hyperpigmentation, acral erythema, @PHENOTYPICFEATURE$, actinic keratoses, and leg ulcers.	has_symptom
+2a6449377deddf2f5e2c8c1b79d1c5e7805145c4	The other dermatoses were malignant acanthosis nigricans, @PHENOTYPICFEATURE$, bullous dermatoses, lymphomatoid papulosis, edematous scarring vasculitic panniculitis, Norwegian scabies, primary systemic amyloidosis, necrolytic migratory erythema, infective dermatitis, pancreatic panniculitis, generalized pruritus, Lesser-Trelat syndrome, and @DISEASE$.	has_symptom
+cdc14540ae91b681a98b9daff93cb7b5c14e1223	Neither severe @DISEASE$ nor @PHENOTYPICFEATURE$ have been recognized to cause severe hypocalcaemia.	has_symptom
+289e833d0585a519a3e3d56e3848a4bbd1ae82f5	The etiology of NC included @DISEASE$ (RTA) in 50% patients and idiopathic @PHENOTYPICFEATURE$ and hyperoxaluria in 7.5% each.	has_symptom
+caadd2320faff83a86df8e0f6c027afe155f55cf	[Osteopenia and renal calcification in a 4.5 year old child with primary @DISEASE$ treated for idiopathic renal @PHENOTYPICFEATURE$].	has_symptom
+92e95c226525e9c3145ff647cf5182eaa2d73a5d	A 39 year old women with a primary Sj?gren syndrome (pSS) had bilateral and multiple nephrolithiasis and nephrocalcinosis due to @DISEASE$ (dRTA), @PHENOTYPICFEATURE$ and hypocitraturia.	has_symptom
+fec2670c66f3fd617ef7c27538bc2eebae87bf08	@DISEASE$ (dRTA) is generally associated with @PHENOTYPICFEATURE$, hypocitraturia, and nephrolithiasis.	has_symptom
+4cb2b2c3788e9754302a5d7070a6a98f16c8c878	We report a 13-month-old boy with MSK who had features of @DISEASE$ (nephrocalcinosis, @PHENOTYPICFEATURE$, hypocitraturia) and failed to thrive.	has_symptom
+c210384c9ce4cdfdae9e2a5e9ecabbfea15ab763	We report a case of IHH involving right side of the body, recurrent renal stones, incomplete @DISEASE$ @PHENOTYPICFEATURE$ and imaging showing bilateral MSKs.	has_symptom
+e95ebf214a4a1b7a9c10ecdff7ccbe783e3cf59f	Discussion of the pathogenic mechanisms responsible for the urolithiasis, including @DISEASE$, @PHENOTYPICFEATURE$ and hypocitraturia, as well as therapy followed in this case.	has_symptom
+be319a463f525fc663be443cb4cf1a884bbade8f	A distal acidification defect is frequently observed in the syndrome of familial hypomagnesaemia-@PHENOTYPICFEATURE$ and hence this condition can be confused with primary @DISEASE$ (RTA).	has_symptom
+db3b5b89e3a07545cb16dfbef45f867fd342860a	@DISEASE$ (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, @PHENOTYPICFEATURE$, hypocitraturia, nephrocalcinosis and nephrolithiasis.	has_symptom
+bfa245dc027e055a0dc01f35cf25c51724bfd934	Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, @PHENOTYPICFEATURE$, @DISEASE$, hypocitraturia, nephrocalcinosis and nephrolithiasis.	false
+6b81f638c4a87234502e3eae9016c54e62d59d27	Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic @DISEASE$, @PHENOTYPICFEATURE$, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis.	false
+e35ae11f14141859baaebbf1814b93211f0e403d	@DISEASE$ (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, @PHENOTYPICFEATURE$, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis.	false
+5283cb9fe72d34d5fb841e751e9e894401589944	Both lead to @DISEASE$ manifesting with metabolic acidosis, @PHENOTYPICFEATURE$, and skin rash.	has_symptom
+5eccd28688e0e755ab464cdf9f03913cadc74fef	Malformations of cortical development (@DISEASE$) usually manifest in childhood with epilepsy, developmental delay and focal @PHENOTYPICFEATURE$.	has_symptom
+5cf5ad4b9013fdcba08c6774d578b62c4d3ca299	The association of extensive facial haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and @PHENOTYPICFEATURE$, is denominated @DISEASE$ and is frequently complicated by mental deficiency, convulsions or ictus.	has_symptom
+9df3c5743b2027ad5af320c74de2d01470e51b6b	The association of extensive facial haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and sternal anomalies, is denominated @DISEASE$ and is frequently complicated by @PHENOTYPICFEATURE$, convulsions or ictus.	false
+a08aaf71e8f50719cee113b5e4087fd9372d17f3	The association of extensive @DISEASE$ haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and sternal anomalies, is denominated PHACE syndrome and is frequently complicated by @PHENOTYPICFEATURE$, convulsions or ictus.	false
+c25e206c35c8c97a5cd95182df79bb8f34707b48	The association of extensive facial haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and @DISEASE$, is denominated PHACE syndrome and is frequently complicated by @PHENOTYPICFEATURE$, convulsions or ictus.	false
+b46805bdb2b086ac7bcf94e08728d61170d1fb43	The collagen VI-related myopathies comprise two major forms, @DISEASE$ (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of @PHENOTYPICFEATURE$ and weakness, joint contractures, distal laxity, and respiratory compromise.	has_symptom
+e1e2f74dbc2df9152700d371315b823c0af282f7	The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of @DISEASE$ and weakness, @PHENOTYPICFEATURE$, distal laxity, and respiratory compromise.	false
+31d031cc68d25c53ab36987d355a8ac867e1ee88	The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (@DISEASE$), which show a variable combination of muscle wasting and weakness, @PHENOTYPICFEATURE$, distal laxity, and respiratory compromise.	false
+0797279a896fa4ffa87aa1594e53102178185eab	The collagen VI-related myopathies comprise two major forms, @DISEASE$ (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of muscle wasting and weakness, @PHENOTYPICFEATURE$, distal laxity, and respiratory compromise.	false
+0a01f0620e80113ece4d33cc65cfd774077d12cb	The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and @DISEASE$ (UCMD), which show a variable combination of muscle wasting and weakness, @PHENOTYPICFEATURE$, distal laxity, and respiratory compromise.	false
+bd75811015c2a6ff68c46ac541f065b0d105b5e7	@DISEASE$ is a rare autosomal dominant myopathy characterized by slowly progressive limb-girdle @PHENOTYPICFEATURE$ and weakness, and contractures of multiple joints.	has_symptom
+26b43c00f8e2e07aadef270ecb161a2a8e952634	Bethlem myopathy is a rare autosomal dominant @DISEASE$ characterized by slowly progressive limb-girdle muscular atrophy and weakness, and @PHENOTYPICFEATURE$ of multiple joints.	false
+b6bdc9de2cfcdcd106ba20cbcf5dd1b10f7f0ce7	@DISEASE$ is a rare autosomal dominant myopathy characterized by slowly progressive limb-girdle muscular atrophy and weakness, and @PHENOTYPICFEATURE$ of multiple joints.	false
+f8c16b0823f4ac37377b7deff1bb831fd38e9084	Bethlem myopathy is a rare autosomal dominant myopathy characterized by slowly progressive limb-girdle @DISEASE$ and weakness, and @PHENOTYPICFEATURE$ of multiple joints.	false
+298751740f362c1ff3710babb80ac58e84ac723f	@DISEASE$ (SD) is a dwarfing autosomal recessive @PHENOTYPICFEATURE$ bone dysplasia.	has_symptom
+7291b53f2856f5a1331cd3a013b4faa20b082f5c	In this report, we present a new case of @DISEASE$ with additional findings such as urinary tract abnormality, bilateral @PHENOTYPICFEATURE$, focal interventricular septal hypertrophy of the heart and vacuolization of myeloid series cells and distinct ultrastructural features of the skin.	has_symptom
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	has_symptom
+49674d323e00e245bce5fb0f1a91a5c6c0dd3367	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+a934b82a4b5b03005c41e117dfafbdd35c601c76	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @DISEASE$ in one child.	false
+b336a121c37c9a248558390136d6a3484e38b034	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+d9c1f0b741634801780e31896428763c3114d88a	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable @DISEASE$ in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+e879fba77423dad7b21a0d061a1491879a761717	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable @DISEASE$ in one child.	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+cf01f37f4af256defef0c6927d9e5cfd606d704f	Furthermore, in patients with @DISEASE$, @PHENOTYPICFEATURE$ can occur due to hypocalcemia or cortical dysgenesis.	has_symptom
+c23bf46e62a67ed0234b6723bbd435c0b722f519	Furthermore, in patients with @DISEASE$, seizures can occur due to @PHENOTYPICFEATURE$ or cortical dysgenesis.	false
+3a4f232fc498dc7a69cef87377f57c81827f2c8c	Furthermore, in patients with DGS, @DISEASE$ can occur due to @PHENOTYPICFEATURE$ or cortical dysgenesis.	false
+ac4aba4cf0a583c00cbbd5c095de8fb3876539c6	A 34-year-old man with partial @DISEASE$ suffered from @PHENOTYPICFEATURE$ and mental retardation from the age of three years.	has_symptom
+2a2a4ac7e12a591bac8207719ca6c7b813d3f461	A 34-year-old man with partial @DISEASE$ suffered from seizures and @PHENOTYPICFEATURE$ from the age of three years.	false
+231b2a8f6d39b421237436e252f7212a33c96e74	A 34-year-old man with partial DiGeorge syndrome suffered from @DISEASE$ and @PHENOTYPICFEATURE$ from the age of three years.	false
+576b9352a2ba3a63c5516d9c38561296ef75fe51	@PHENOTYPICFEATURE$ and EEG findings in an adult patient with @DISEASE$: a case report and review of the literature.	has_symptom
+b7d72ccf5b0caffadec92c2baf623d96609d8bf2	One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (@DISEASE$), and the other presented with leg asymmetry and @PHENOTYPICFEATURE$, with subsequent recognition of the velo-cardio-facial syndrome (VCFS).	has_symptom
+add2885736f4542e63013f060641ce5b2a3f6a64	One had unilateral clubfoot in addition to multiple features suggestive of the @DISEASE$ (DGS), and the other presented with leg asymmetry and @PHENOTYPICFEATURE$, with subsequent recognition of the velo-cardio-facial syndrome (VCFS).	has_symptom
+fc9d8464a9b060f7db0564fd98c9cd67b3487c69	We present two patients with poorly controlled @PHENOTYPICFEATURE$ that turned out to be caused by @DISEASE$ with hypocalcemia.	has_symptom
+bb824cb885dcbb36f8a6f951c014491930251e0d	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	has_symptom
+7c500c5b306eb8fbedfe4b2b98f006dcc55c02cb	Postnatally, the patient presented with @DISEASE$, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+261d45696d9a713a7c8c7c582cceba34c1bbbbdb	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+7944d537e9021233e135ecc09ddfe4ab7bf9eac9	Postnatally, the patient presented with seizures, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as @DISEASE$.	false
+31960081815ef5c9a276ceeb734c5a9c3988984d	Postnatally, the patient presented with @DISEASE$, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+2e7d5b5adcebb69b8aff1c26dbb2db3ebd341a99	We report, for the first time, the case of a patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+0ff64ac21c119a50d180b080d7aed12f1eb8a0a6	We report, for the first time, the case of a patient with DiGeorge syndrome with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @DISEASE$ and epilepsy.	false
+f95abd1dc6bdf3e5f076dbe1820ea465c1356187	We report, for the first time, the case of a patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizures and epilepsy.	false
+a43b41b7cc0fe58cb9d854655aeb1a1a5fa14ddf	A patient with @DISEASE$ with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+a1ddcfad9151863fcd9cb67cdf29ac48ab2a26a8	A patient with DiGeorge syndrome with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced @DISEASE$ and epilepsy.	false
+365234afef1b870e8976c0c4e8b7636e1112bb71	A patient with @DISEASE$ with @PHENOTYPICFEATURE$ and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.	false
+e97c284cfb617221590af6f32edfea77876cfa07	Hypoplasia of the thymus hypocalcaemia, and @PHENOTYPICFEATURE$ in early infancy, which are clinical features of @DISEASE$, were also observed.	has_symptom
+5b59c1cbf2aa4cff9b2c9c0ca127eafd08e9b8c4	Hypoplasia of the thymus @PHENOTYPICFEATURE$, and @DISEASE$ in early infancy, which are clinical features of DGS, were also observed.	false
+257308229548b6ce45b8f2ff9364283f69612ab1	Hypoplasia of the thymus @PHENOTYPICFEATURE$, and seizures in early infancy, which are clinical features of @DISEASE$, were also observed.	false
+7841163f1d4423d92b850cb5ef100474a400839a	Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described @DISEASE$ (ARCA) defined by genetic location to 9q34 of three families sharing @PHENOTYPICFEATURE$, oculomotor apraxia and/or elevated alpha-foetoprotein (AFP) levels.	has_symptom
+b60d97b25f5540377d9f76638bf4d52a27a70fa5	@DISEASE$ type I, also known as recessive ataxia of Beauce, is a slowly progressive ataxia that leads to moderate disability with @PHENOTYPICFEATURE$, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging.	has_symptom
+057d6b81a540b37c7154732f0f9b279e8cf3ed0d	Autosomal recessive cerebellar ataxia type I, also known as recessive @PHENOTYPICFEATURE$ of Beauce, is a slowly progressive ataxia that leads to moderate disability with @DISEASE$, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging.	false
+e018d07ea1e810f7474dfe8163fa16658c993bc7	Autosomal recessive cerebellar ataxia type I, also known as recessive @PHENOTYPICFEATURE$ of Beauce, is a slowly progressive @DISEASE$ that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging.	false
+9118a4d6e7d772654ec9f5293902247ba80dc2ae	@DISEASE$ type I, also known as recessive ataxia of Beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild @PHENOTYPICFEATURE$, and diffuse cerebellar atrophy on brain imaging.	false
+0a4e5e3a450be21d795bf29a2c2f76e79f3655ac	Autosomal recessive cerebellar ataxia type I, also known as recessive ataxia of Beauce, is a slowly progressive ataxia that leads to moderate disability with @DISEASE$, dysarthria, dysmetria, mild @PHENOTYPICFEATURE$, and diffuse cerebellar atrophy on brain imaging.	false
+f3598eec6e4f0475b3ad058d460b3cc897540709	Autosomal recessive cerebellar ataxia type I, also known as recessive ataxia of Beauce, is a slowly progressive @DISEASE$ that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild @PHENOTYPICFEATURE$, and diffuse cerebellar atrophy on brain imaging.	false
+df5e78c4300be5ced04132b6d2a4f588fc9b5a0b	@DISEASE$ type I, also known as recessive @PHENOTYPICFEATURE$ of Beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging.	false
+2f8765630ac55b753dc94b4de7de5cd3fa02abee	Association of @PHENOTYPICFEATURE$ and sudden death in @DISEASE$.	has_symptom
+0f96deb95a558f3452fae8f73c9a58eeae881e12	The sudden death of @DISEASE$ patients was previously attributed to CTH, convulsion, or @PHENOTYPICFEATURE$.	has_symptom
+b663195e343665af03c7640e85516867814782de	Two unrelated patients with MRE11A mutations and @DISEASE$-like severe @PHENOTYPICFEATURE$.	has_symptom
+614f4da15025824936075e5956a9112bd2e19db9	[@DISEASE$ phenotype: a disorder to consider in the diagnosis of @PHENOTYPICFEATURE$].	has_symptom
+3a9ff7643c17ccb8329504e15e2ecd173dbe5be9	@DISEASE$ (NBS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, immunodeficiency, and predisposition to hematopoietic malignancy.	has_symptom
+913cacfdfb0c8ce3836c3ab8425ffe5193a81ee7	Nijmegen breakage syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, immunodeficiency, and predisposition to hematopoietic malignancy.	has_symptom
+db9752b65cf5eca1e7a33652851d57c33e0a904c	Severe @PHENOTYPICFEATURE$ with normal intellectual development: the @DISEASE$.	has_symptom
+a29ad3df3147f66b472480290ff6aaa91e78271e	@DISEASE$ (NBS) is a combined primary immunodeficiency with DNA repair defect, @PHENOTYPICFEATURE$, and other phenotypical features.	has_symptom
+e80dcca2c1f8e9024facedb47687a534af9dff21	Nijmegen breakage syndrome (@DISEASE$) is a combined primary immunodeficiency with DNA repair defect, @PHENOTYPICFEATURE$, and other phenotypical features.	has_symptom
+b163aa739af6ec162c27539d78cfb0688de06b5c	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, growth retardation, immunodeficiency, and cancer predisposition.	has_symptom
+bfd98dbd9b617c4f56252b383d51d5951e39cef5	@DISEASE$ is characterized by microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and cancer predisposition.	false
+540607b14c4d137dd540e07a531571a3e5972ab8	NBS is characterized by microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and cancer predisposition.	false
+345c721d0725349bc7a9792eadedf7a0459b48e0	NBS is characterized by @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, and cancer predisposition.	false
+4b976eafac651ace81dc8113ddade00292bc8585	NBS is characterized by microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and @DISEASE$ predisposition.	false
+d15b2e386e650e762b7a12ef1b8ad66dea0a37d3	@DISEASE$ in 13% of age-matched Czech children with primary @PHENOTYPICFEATURE$.	has_symptom
+59f27e0d1a008f7e85ee6367e95f425d5bee5df6	@DISEASE$ (NBS) is a genetic disorder characterized by immunodeficiency, @PHENOTYPICFEATURE$, and "bird-like" facies.	has_symptom
+8053efe05045d35af1705c0d6aa3a1559e92b9d9	Nijmegen breakage syndrome (@DISEASE$) is a genetic disorder characterized by immunodeficiency, @PHENOTYPICFEATURE$, and "bird-like" facies.	has_symptom
+c4b99314927350ba327048007981cca55ad524b3	Nijmegen breakage syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, developmental delay, characteristic facial features, immunodeficiency and radiosensitivity.	has_symptom
+8d980df399c9c5e89a6e23efbf031f039f36c24a	@DISEASE$ (NBS) is characterised by @PHENOTYPICFEATURE$, developmental delay, characteristic facial features, immunodeficiency and radiosensitivity.	has_symptom
+a361d4742fed1e24ca62c74676afe4d1fcba41d1	Nijmegen breakage syndrome (@DISEASE$) is a rare DNA repair disorder characterized by @PHENOTYPICFEATURE$, immunodeficiency, and predisposition to malignancy.	has_symptom
+ddef9605bc9a798561e8297e0eb1843d2b83b293	@DISEASE$ (NBS) is a rare DNA repair disorder characterized by @PHENOTYPICFEATURE$, immunodeficiency, and predisposition to malignancy.	has_symptom
+c4316b3a00bd1c5266f0c47cc9db454be3ca6394	Eleven somnolent @DISEASE$ patients had obstructive @PHENOTYPICFEATURE$, in whom treatment led to a reduction in ESS by 6?4 ? 1?4, P = 0?01.	has_symptom
+f41ed4c530842a2afecadf0230ed153d5bea9810	@DISEASE$ with early-onset @PHENOTYPICFEATURE$ (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder.	has_symptom
+db88ecb419c76a4c26f8056dacebe131d277aa00	The authors describe the maxillo-facial and @PHENOTYPICFEATURE$ present in a rare polymalformative syndrome: @DISEASE$.	has_symptom
+39b05ae7b1478fd3e3b3bc3eb565b6456cbef9f2	The paper describes the maxillo-facial and @PHENOTYPICFEATURE$ observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; @DISEASE$; Goldenhar's syndrome).	has_symptom
+283ed45f6fd1f610a26f3e5421df3e45ae58452f	The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' @PHENOTYPICFEATURE$; @DISEASE$; Goldenhar's syndrome).	false
+85e873cc7377cb6ad55331e0c8a5da083f433bf5	The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; @DISEASE$' @PHENOTYPICFEATURE$; Sotos' syndrome; Goldenhar's syndrome).	false
+283d1f94648cdcaab08f5f93c1317fbd52c38534	The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' @PHENOTYPICFEATURE$; Sotos' syndrome; Goldenhar's @DISEASE$).	false
+a91989e6ad07a6aa25d69376016b71f7494e33d3	The paper describes the maxillo-facial and @DISEASE$ observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' @PHENOTYPICFEATURE$; Sotos' syndrome; Goldenhar's syndrome).	false
+87a171ee2763fdcd6dec154b5da8e055843c0952	The use of hip arthroscopy in infectious arthritis, @PHENOTYPICFEATURE$ of the femoral head, @DISEASE$, osteochondrosis dissecans and complications after total hip replacement is less frequent.	has_symptom
+2a9807e29cfaa653a1b20073e3d9fe21452d9474	Ten patients had @DISEASE$, 4 had developmental dysplasia of the hip, and 4 had @PHENOTYPICFEATURE$ of the hip.	has_symptom
+14956bb589c564ad03814badacfa988067e394e8	@DISEASE$ (LCPD), by contrast, is a more common idiopathic condition leading to variable @PHENOTYPICFEATURE$ of the immature femoral head.	has_symptom
+2a9807e29cfaa653a1b20073e3d9fe21452d9474	Ten patients had @DISEASE$, 4 had developmental dysplasia of the hip, and 4 had @PHENOTYPICFEATURE$ of the hip.	has_symptom
+eb06a6d20f666eab456a1c0951b3286a3424eb8c	Because germ-line mutations at LKB1/STK11 result in the @DISEASE$ and an increased risk of cancer, we performed a detailed genetic screen of the LKB1/STK11 gene in @PHENOTYPICFEATURE$.	has_symptom
+fcc86439608bd2893765e7629bb5104c276c4e67	@DISEASE$ and @PHENOTYPICFEATURE$ were first identified when the patient was 58 years old.	has_symptom
+3d55fa1c9eaa7fd3a45cf8d26a1fe1967f7b4a87	@DISEASE$ and @PHENOTYPICFEATURE$ (Good's syndrome).	has_symptom
+a6bbfb874cea1ec3d58a6e6116867c027f09e75d	We describe an oligosymptomatic patient with Good syndrome (@DISEASE$ and @PHENOTYPICFEATURE$) in who a follow-up chest computed tomography showed circumferential tracheobronchial wall thickening.	has_symptom
+9833cb66cfe0b2656a98e99ed9bd10d6fae8c25a	Several articles have discussed the relation between PRCA and @DISEASE$ or @PHENOTYPICFEATURE$ and thymoma, and their proper treatments.	has_symptom
+f5acf9adc9cb4064914bc0cdf464a0df62dc96b8	@DISEASE$ and @PHENOTYPICFEATURE$ (Good's syndrome): a case report.	has_symptom
+854a62e1d34960e42f64449c57d365058cc5768e	Good's syndrome (GS) is a rare combination of @DISEASE$ and @PHENOTYPICFEATURE$, resulting in immunodeficiency.	has_symptom
+81cd7124674c370413db6c81e9aba8ae1258ab52	Chronic diarrhea associated with @DISEASE$ and @PHENOTYPICFEATURE$ (Good's syndrome).	has_symptom
+28a1251712686f33a4b3a0ac15098f16c9c454f4	A 79-year-old Japanese woman diagnosed with pure red cell aplasia (PRCA) associated with @DISEASE$ and @PHENOTYPICFEATURE$ (Good's syndrome) was successfully treated with cyclosporine-A after a thymectomy.	has_symptom
+4b6ff481da2e2dc6afd8f1a6469132618a785b7d	A 2-month-old boy presented with @PHENOTYPICFEATURE$ and chorioretinitis, consistent with @DISEASE$.	has_symptom
+b595f55c9aeebb5771426a66b5189232c63fb8ac	We report a case of @DISEASE$ with a prenatal diagnosis of fetal @PHENOTYPICFEATURE$.	has_symptom
+ac99251605c2c67c6cb002f93b319727e32ee088	These measures will decrease the incidence of both eye disease and the more severe manifestations of @DISEASE$, which include congenital abnormalities, mental retardation, @PHENOTYPICFEATURE$ and blindness.	has_symptom
+6a8a01fb295ca0acf238ea4b727f61756ff32f90	These measures will decrease the incidence of both eye disease and the more severe manifestations of @DISEASE$, which include congenital abnormalities, mental retardation, hydrocephalus and @PHENOTYPICFEATURE$.	false
+a5bbe5d821b51e4a2213e7998d7dd7ed12299806	These measures will decrease the incidence of both eye disease and the more severe manifestations of @DISEASE$, which include congenital abnormalities, @PHENOTYPICFEATURE$, hydrocephalus and blindness.	false
+0777480516dc8a779ceb892d83e35a35f347ece1	These measures will decrease the incidence of both eye disease and the more severe manifestations of congenital toxoplasmosis, which include @DISEASE$, mental retardation, hydrocephalus and @PHENOTYPICFEATURE$.	false
+d185587e401a5f28d52544e8f9b718c55fd16f23	These measures will decrease the incidence of both @DISEASE$ and the more severe manifestations of congenital toxoplasmosis, which include congenital abnormalities, mental retardation, hydrocephalus and @PHENOTYPICFEATURE$.	false
+4e7de10f57fe11be7a0545d2077917a18830e2b9	These measures will decrease the incidence of both eye disease and the more severe manifestations of congenital toxoplasmosis, which include @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus and blindness.	false
+687f475d2b96d5625b1f59c9dc5b77e58fd757d3	These measures will decrease the incidence of both eye disease and the more severe manifestations of congenital toxoplasmosis, which include congenital abnormalities, mental retardation, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e07f4f22b18acefd4f17418aaa909103cc502b65	These measures will decrease the incidence of both @DISEASE$ and the more severe manifestations of congenital toxoplasmosis, which include congenital abnormalities, @PHENOTYPICFEATURE$, hydrocephalus and blindness.	false
+27ae4f41db24cdcae08177640707314f667a0a91	These measures will decrease the incidence of both eye disease and the more severe manifestations of congenital toxoplasmosis, which include congenital abnormalities, @PHENOTYPICFEATURE$, @DISEASE$ and blindness.	false
+1af0836f5c748ede2caf607d62d392b9ed2af454	One or more severe clinical manifestations of @DISEASE$ were reported in 84% of the infants and included eye disease (92.2%), brain calcifications (79.6%), and @PHENOTYPICFEATURE$ (67.7%).	has_symptom
+31a08d220a6531922da1fce05040b8ed12c5aebc	One or more severe clinical manifestations of congenital toxoplasmosis were reported in 84% of the infants and included eye disease (92.2%), @PHENOTYPICFEATURE$ (79.6%), and @DISEASE$ (67.7%).	false
+cb7590fa1ccd961dcb13cb6b6f0752bdd30daa58	One or more severe clinical manifestations of congenital toxoplasmosis were reported in 84% of the infants and included @DISEASE$ (92.2%), @PHENOTYPICFEATURE$ (79.6%), and hydrocephalus (67.7%).	false
+5522d4562ab24c2414db02f891f090a24f492cca	One or more severe clinical manifestations of @DISEASE$ were reported in 84% of the infants and included eye disease (92.2%), @PHENOTYPICFEATURE$ (79.6%), and hydrocephalus (67.7%).	false
+97c2fa1b5338305a593806ad9f18e930545bd439	[Toxoplasmosis as cause of @PHENOTYPICFEATURE$ (case report of @DISEASE$)].	has_symptom
+4f847d9e579af05ac5ca22becbf5f98895a73d4d	Our patient was diagnosed with @DISEASE$, based on toxoplasma-specific serologic test with typical clinical symptoms, including chorioretinitis, nystagmus, @PHENOTYPICFEATURE$ and cerebral palsy.	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+3dcef696ccb329e019cf971590a293195102fba9	Our study reveals that severe clinical signs of @DISEASE$ including @PHENOTYPICFEATURE$, eye disease, or intracranial calcifications occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	has_symptom
+77b484518ff3b15aaf17fe69ad867d6b40382005	Our study reveals that severe clinical signs of congenital toxoplasmosis including hydrocephalus, @DISEASE$, or @PHENOTYPICFEATURE$ occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	false
+ce7552f8a1a8d01562676d011aae801b2e57accc	Our study reveals that severe clinical signs of @DISEASE$ including hydrocephalus, eye disease, or @PHENOTYPICFEATURE$ occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	false
+9c3b3264d84a7cd1e9a1634bfc435ea9c8887f49	Our study reveals that severe clinical signs of congenital toxoplasmosis including @DISEASE$, eye disease, or @PHENOTYPICFEATURE$ occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	false
+af75318932af9973808a64bbfbbce226acdc94fc	We report on a 28-year-old male patient presenting with signs of @DISEASE$ with intracerebral calcifications and internal @PHENOTYPICFEATURE$ (Whytt's disease).	has_symptom
+58528d05255fe458b894f0fc90f3e104681a9450	[Anatomoclinical aspects of a case of @DISEASE$ (@PHENOTYPICFEATURE$ associated with choroiditis); isolation of a strain with weak pathogenic power in the mouse].	has_symptom
+b726d1defa524520bff97b9a6dd2df73f8e912d3	TPP1 mutations have been identified in patients with variable phenotypes such as @DISEASE$ (LINCL), juvenile neuronal ceroid lipofuscinosis (JNCL), and spinocerebellar @PHENOTYPICFEATURE$ 7.	has_symptom
+815607faf04aeabadf7019299a5cd4c9b9c9065d	Intrafamilial patients with Malattia leventinese/@DISEASE$ seem to be phenotypically variable in @PHENOTYPICFEATURE$, ophthalmoscopic findings, autofluorescence imaging, and optical coherence tomography changes.	has_symptom
+4625050613ad7734db67545cbbda2f30b2359c0f	@DISEASE$ (SMS) is an @PHENOTYPICFEATURE$ syndrome with sleep disturbance, self-injurious behaviors and dysmorphic features.	has_symptom
+2de078eda995c06f346a36eb3a7aa79e5717495b	Smith-Magenis syndrome (SMS) is an @DISEASE$ syndrome with @PHENOTYPICFEATURE$, self-injurious behaviors and dysmorphic features.	false
+97b71c95e83e0d1c1680fe7c91301975618c34c0	@DISEASE$ (SMS) is an intellectual disability syndrome with @PHENOTYPICFEATURE$, self-injurious behaviors and dysmorphic features.	false
+b1a2235f13b03af6f3822b8d1f3b55aec8dc2b5f	The @DISEASE$ (SMS) is characterized by congenital anomalies, @PHENOTYPICFEATURE$ and the interstitial deletion of the 17p.	has_symptom
+dcaaa339dca5578bac055d1741706aa268bfc981	@DISEASE$ (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome including physical and neurobehavioural features.	has_symptom
+486af26ad280112298bc5b404d479b6930dfdcf5	Correction to: De novo and inherited TCF20 pathogenic variants are associated with @PHENOTYPICFEATURE$, dysmorphic features, hypotonia, and neurological impairments with similarities to @DISEASE$.	has_symptom
+8fb1b3a3c076044f1de282516906fc2a80d1a001	Molecular screening for @DISEASE$ among patients with @PHENOTYPICFEATURE$ of unknown cause.	has_symptom
+0c544663a30e162c363c48aa8a3e9c9e39163f29	@DISEASE$ (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, @PHENOTYPICFEATURE$ and early onset obesity.	has_symptom
+eb62b9659848f94eea7ac14597680298212973cd	Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, @DISEASE$ and early onset @PHENOTYPICFEATURE$.	false
+78274096c4a6b2cabf39326e715871eb27428cb2	@DISEASE$ (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, intellectual disability and early onset @PHENOTYPICFEATURE$.	false
+4a98663efd779fbf76b33c74ad9f8e4347c996df	De novo and inherited TCF20 pathogenic variants are associated with @PHENOTYPICFEATURE$, dysmorphic features, hypotonia, and neurological impairments with similarities to @DISEASE$.	has_symptom
+f83b9f7861157226d2f1c936484543932c00ec77	@DISEASE$ (SMS), a neurodevelopmental disorder characterized by dysmorphic features, @PHENOTYPICFEATURE$ (ID), and sleep disturbances, results from a 17p11.2	has_symptom
+7b7eb45738f6c11a073e800235830024faf1fcb4	Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, @DISEASE$ (ID), and @PHENOTYPICFEATURE$, results from a 17p11.2	false
+22dd3b20902c2de4d15de3e6f75739d4aa3f3060	@DISEASE$ (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and @PHENOTYPICFEATURE$, results from a 17p11.2	false
+e167c0fb639aa0c7a5f1191c7810db52277a40cd	@DISEASE$ (SMS) is a @PHENOTYPICFEATURE$ syndrome associated with deletions involving chromosome 17p11.2.	has_symptom
+f690e504dbd4630bd8b59405058f7d37833475af	Microdeletion on  17p11.2 in a @DISEASE$ patient with @PHENOTYPICFEATURE$ and  congenital heart defect: first report from China.	has_symptom
+63b72d17ab268778f3bdfdbac94e5d31120b4112	Microdeletion on  17p11.2 in a Smith-Magenis syndrome patient with @DISEASE$ and  @PHENOTYPICFEATURE$: first report from China.	false
+57cc5e7591b38aae405e522e5ada4dd3ae2bf3bf	Microdeletion on  17p11.2 in a @DISEASE$ patient with mental retardation and  @PHENOTYPICFEATURE$: first report from China.	false
+ae9c33a8109c97b557d2b2047afbd507282387dc	The presence of chorea in @DISEASE$ is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, @PHENOTYPICFEATURE$ and diffuse brain atrophy.	has_symptom
+72ee80b7708b5dad3a835de1f96c59e5fd836c5e	The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of @DISEASE$, especially in children with psychomotor regression, @PHENOTYPICFEATURE$ and diffuse brain atrophy.	has_symptom
+af9e97a834c80ffa6b0cc20f372c338e170e2b7d	Classic @DISEASE$ is characterized by progressive intellectual and motor deterioration, @PHENOTYPICFEATURE$, vision loss, and early death.	has_symptom
+8064b6d59cb458472135c851abb3be38f58077e4	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, @PHENOTYPICFEATURE$, and motor dysfunction.	has_symptom
+4a0096ac146f71de6005e1de23c04802ee16aff5	Typically, @DISEASE$ (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @PHENOTYPICFEATURE$, seizures, and motor dysfunction.	false
+8e736381ff99888ce1bf873dfbfc8b525aa65b69	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, @PHENOTYPICFEATURE$, @DISEASE$, and motor dysfunction.	false
+c8af6378ced4d07947026d714d8c049c41a6e377	Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive @DISEASE$, @PHENOTYPICFEATURE$, seizures, and motor dysfunction.	false
+35478228738379146367eeb451475bbaa25e088f	The CLN6 gene that causes variant @DISEASE$ (vLINCL), a recessively inherited neurodegenerative disease that features blindness, @PHENOTYPICFEATURE$, and cognitive decline, maps to 15q21-23.	has_symptom
+4d8b7562e4fafb52af61161cd4d5d7cc2034ae73	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset visual loss, psychomotor deterioration, and @PHENOTYPICFEATURE$.	has_symptom
+00fc772fb588e9517319973ebfa3658898169be2	The clinical phenotype is that of a variant @DISEASE$ and consisted of early-onset @PHENOTYPICFEATURE$, psychomotor deterioration, and seizures.	false
+6829c8089d7d1648cb9d6c8c47e1299060b6ed87	The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset @PHENOTYPICFEATURE$, psychomotor deterioration, and @DISEASE$.	false
+4819ca192f96c7d14f69a194bad34d297e192305	In this paper we describe the clinical characteristics, and particularly the @PHENOTYPICFEATURE$ and electroencephalographic findings, in 15 patients with a pathology diagnosis of @DISEASE$ (NCL).	has_symptom
+b2f4a0611fe4dc72edc265533822a6dec6f3a335	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and mental deterioration.	has_symptom
+a13dc754f043c92e9a8948861052c855d9a409e6	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @DISEASE$, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	false
+aee000fcab9033aa4eca9086ba091f41b86c4dd2	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an @DISEASE$ of childhood characterized by seizures, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	false
+1de1ed0745f700cc9474739d4bb6b1c2200b95b9	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	false
+2133e72a14f6bd0dd82992b84c0c632c6d758b6e	Classical @DISEASE$ (LINCL) is caused by mutations in tripeptidyl peptidase I (TPP-I), a pepstatin-insensitive lysosomal protease, resulting in neurodegeneration, acute @PHENOTYPICFEATURE$, visual and motor dysfunction.	has_symptom
+667d0d9cef157d0fd81d705bc232c739bf4408fc	Classical genetic @DISEASE$ (GGE) syndromes were seen in five relatives: two @PHENOTYPICFEATURE$ alone, two childhood absence epilepsy (CAE), and one juvenile myoclonic epilepsy (JME).	has_symptom
+637a14145a774e3c86bb122c90e3e9c03dd2149f	Classical genetic generalized epilepsy (GGE) syndromes were seen in five relatives: two @DISEASE$ alone, two childhood absence epilepsy (CAE), and one juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	false
+46ac1bb74ff82f2381075183cf051d7a4f7a3249	Classical genetic @DISEASE$ (GGE) syndromes were seen in five relatives: two generalized tonic-clonic seizures alone, two childhood absence epilepsy (CAE), and one juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	false
+0d53144e1b7c3a1f647bb127697f738fefedfaa6	SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic @DISEASE$ of infancy with @PHENOTYPICFEATURE$.	has_symptom
+4b03c49563f0ab0ccd26fcc5fc55597c2de202f6	We present a patient with WS and idiopathic @DISEASE$ who had been wrongly diagnosed with focal epilepsy, which leads to the prescription of carbamazepine with severe aggravation of @PHENOTYPICFEATURE$.	has_symptom
+20038b9d5a210a13c296e8c9d43db7c28c90778c	@PHENOTYPICFEATURE$ (GTCS) comprise a common subsyndrome of idiopathic @DISEASE$ (IGE).	has_symptom
+b278bf1c8f9fd2f6834948d5b96700afa0e919cd	Carbamazepine treatment of @PHENOTYPICFEATURE$ in idiopathic @DISEASE$.	has_symptom
+5c81919bc2782f8afc1ab7bab8af533fb1e26376	Juvenile myoclonic epilepsy (JME) is a common type of idiopathic @DISEASE$ that is characterized by myoclonic jerks of the upper limbs and @PHENOTYPICFEATURE$.	has_symptom
+856ec750c4e50c0ac27343bbc826cd3dbc1176dc	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is a common type of idiopathic @DISEASE$ that is characterized by myoclonic jerks of the upper limbs and generalized tonic-clonic seizures.	false
+66cea68bda38761c4744c1a457034d0334f68079	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is a common type of idiopathic generalized epilepsy that is characterized by myoclonic jerks of the upper limbs and @DISEASE$.	false
+f8da6eab50ba2ee809315727f490a8c93905442f	Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic @DISEASE$ of infancy (SIGEI) with @PHENOTYPICFEATURE$ (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps.	has_symptom
+16a8cd8bf952cf35f68ab306d050838cce9aea4c	To define the relationship between two syndromes of idiopathic @DISEASE$ (IGE) with apparently similar phenotypes: The form with @PHENOTYPICFEATURE$ only (IGE-GTCS) and that with phantom absences (IGE-PA).	has_symptom
+f1ed06b1329d2dd2f4c0c8a895d05a8f55eae5dc	The study reported here discusses the duration of the @PHENOTYPICFEATURE$ (GTCS) among frontal lobe epilepsy (FLE), medial temporal lobe epilepsy (MTLE) and idiopathic @DISEASE$ (IGE).	has_symptom
+d77cdd7c0362abfbe8adfdf7483b81314db192cc	Juvenile myoclonic epilepsy is the most common idiopathic @DISEASE$, characterized by frequent myoclonic jerks, @PHENOTYPICFEATURE$ and, less commonly, absences.	has_symptom
+b435e48bc67ea64fd9fceaff894e317da4274590	Juvenile myoclonic epilepsy is the most common idiopathic @DISEASE$, characterized by frequent @PHENOTYPICFEATURE$, generalized tonic-clonic seizures and, less commonly, absences.	false
+81494204755b2c5243d193f68c6b9204ec40d6df	Juvenile @PHENOTYPICFEATURE$ epilepsy is the most common idiopathic generalized epilepsy, characterized by frequent myoclonic jerks, @DISEASE$ and, less commonly, absences.	false
+1522e4a2e097522af7d6a75396e2609bf7c00231	Juvenile myoclonic epilepsy is the most common idiopathic generalized epilepsy, characterized by frequent @PHENOTYPICFEATURE$, @DISEASE$ and, less commonly, absences.	false
+88b1be9ca7d1ad7d8d4dd19b3afdf702d65fa79c	Juvenile @PHENOTYPICFEATURE$ epilepsy is the most common idiopathic @DISEASE$, characterized by frequent myoclonic jerks, generalized tonic-clonic seizures and, less commonly, absences.	false
+0f0d9f222ddf6856f600c53c85018e6bab32bf7a	@DISEASE$ is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral @PHENOTYPICFEATURE$ and post axial polydactyly.	has_symptom
+d1096b5bb0decdee4e0fbd7d1ce10330285db017	@DISEASE$ is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial @PHENOTYPICFEATURE$.	false
+c33d9171d81ea63055c75e75dac44f8ce207e166	Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral @DISEASE$ and post axial @PHENOTYPICFEATURE$.	false
+c2c7f32dc2420df45f567f4418a12830f52d23f3	@DISEASE$ is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral @PHENOTYPICFEATURE$ and post-axial polydactyly.	has_symptom
+2b7650c8d6374be92b70a0d9704c96781b262365	Meckel Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral @DISEASE$ and post-axial @PHENOTYPICFEATURE$.	false
+f9b0192b3f9e08c8bd26c398ca89ca051b82d4c6	@DISEASE$ is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post-axial @PHENOTYPICFEATURE$.	false
+93517796a62e7ec5222d37735774c2e6eed85c7d	@DISEASE$ (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral @PHENOTYPICFEATURE$, postaxial polydactyly.	has_symptom
+17cf77974580e9fbfe04e718741eacab1a6a24cb	@DISEASE$ (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged @PHENOTYPICFEATURE$.	has_symptom
+819c867927b5d796a6ee232c1e60bd8d1c8687c8	Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of @DISEASE$ (occipital encephalocele), post-axial @PHENOTYPICFEATURE$, and enlarged polycystic kidney dysplasia.	false
+1f0569c614d9294cb6bc5dfd863014d667226f5a	@DISEASE$ (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial @PHENOTYPICFEATURE$, and enlarged polycystic kidney dysplasia.	false
+01407ba6ed046a1f6504a4e1c33d95c78961c6d2	Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial @PHENOTYPICFEATURE$, and enlarged @DISEASE$.	false
+7acf1c79bce097869005d418fdf5af165f5bc016	Given these assumptions, the amount of SOD serum in autistic patients and healthy individuals and correlation between the amount of @DISEASE$ and @PHENOTYPICFEATURE$ severity were examined.	has_symptom
+f33ea56a214dbf8b428951cc36762faab2dfeae2	Given these assumptions, the amount of @DISEASE$ serum in autistic patients and healthy individuals and correlation between the amount of SOD and @PHENOTYPICFEATURE$ severity were examined.	has_symptom
+5651b9f27945ffe2a95bfd07e54b018d38bfdf74	The present study was performed to assess the changes in red blood cells thiobarbituric acid-reactive substances (TBARS) levels, and superoxide dismutase (@DISEASE$), catalase (CAT), adenosine deaminase (ADA) and xanthine oxidase (XO) activities in patients with @PHENOTYPICFEATURE$ (n = 27) compared to age- and sex-matched normal controls (n = 26).	has_symptom
+3057ed6e9a084769a2df4fc3d71298117968846a	This report describes eight children (4 males, 4 females; age 2 to 17 years) with @DISEASE$ who manifested dysmorphic features (involving not only the midline facial structures) and a spectrum of additional clinical and imaging features including @PHENOTYPICFEATURE$, facial hemangioma, and holoprosencephaly.	has_symptom
+207fb39b62e7cbebbe52867e6ae03f32cb48ae32	We assessed the changes in superoxide dismutase (@DISEASE$), glutathione peroxidase (GSH-Px) activities and thiobarbituric acid-reactive substances (TBARS) levels in plasma as well as NO levels in red blood cells (RBC) in patients with @PHENOTYPICFEATURE$ (n=27) compared to age- and sex-matched normal controls (n=30).	has_symptom
+373dc9c06c9b5ae984a162fafe601c738dcd27dd	Adult polyglucosan body disease (@DISEASE$) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, @PHENOTYPICFEATURE$, and cognitive impairment.	has_symptom
+7c3562110ce7fbf344c855ca654e54564dd6a2e5	Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f6034e3a59c516b9f84ab31505f4065ed1ffbecf	Adult polyglucosan body disease (@DISEASE$) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and @PHENOTYPICFEATURE$.	false
+ae3fc2be3af7b5461e597594469c0e9e4f1fd729	Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure @DISEASE$, upper motor neuron symptoms, neurogenic bladder, and @PHENOTYPICFEATURE$.	false
+ed04eed56424104d82e43afe5a6820d92545f425	Adult polyglucosan body disease (APBD) is a rare @DISEASE$, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and @PHENOTYPICFEATURE$.	false
+3a3b425ef96c3439e09d1abf9238b012020a1da0	Adult polyglucosan body disease (@DISEASE$) usually presents with progressive spastic paraparesis, @PHENOTYPICFEATURE$, and distal lower limb sensory abnormalities.	has_symptom
+f5a4835d523bf6e14a0a10be6f7187acddc9f135	Adult polyglucosan body disease (@DISEASE$) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and @PHENOTYPICFEATURE$.	has_symptom
+a4fd7f0d5255c87dae3690848979b1d3c31e324b	The familial association of neurofibromatosis, @DISEASE$, @PHENOTYPICFEATURE$, partial albinism, and Axenfeld's defect.	has_symptom
+2b3088f7367a5accb3dc39b62dcc88b6fc21a977	Three distinct clinical manifestations of carnitine palmitoyltransferase II (@DISEASE$) deficiency have been defined including a mild adult onset @PHENOTYPICFEATURE$, a severe infantile disorder and a lethal neonatal form.	has_symptom
+391b3d43a5b0493dc89320fff9864b68b5ba62de	Congenital aniridia is a kind of eye @DISEASE$ by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia.	false
+763028bb778181f9d5675f39e30373edfc60244b	@DISEASE$ aniridia is a kind of eye disease characterized by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia.	false
+7998b55acbd370d16f8617f5c382e6dd14b7de17	Congenital aniridia is a kind of eye disease characterized by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, glaucoma, and @DISEASE$.	false
+bc8cd17a28a8d85856da745e54cc5486777b8bc5	Congenital aniridia is a kind of eye disease characterized by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, @DISEASE$, and foveal hypoplasia.	false
+590a2c29368fdd5b0eb69e46efe2f4a7277ac948	Congenital @DISEASE$ is a kind of eye disease characterized by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia.	false
+5285a2891608b739069716d261acfb775c12f433	The lesions of @DISEASE$ have their onset in the distal arteries of the extremities and are frequently associated with @PHENOTYPICFEATURE$ and hypersympathicotonia. Marked clinical improvement may be obtained after treatment by lumbar sympathectomy combined with adrenalectomy and cessation of smoking.	has_symptom
+7a5293cfeeeaeb0fd7b9af6366a12a71effc6ef3	Chemical sympatholysis is commonly performed for palmar or plantar @PHENOTYPICFEATURE$, @DISEASE$, critical lower limb ischaemia where there is no revascularization option available and palliation of pain.	has_symptom
+4e446aa7fa79d3d0dbe73a92403fb64e9590ed31	Coffin-Siris syndrome (@DISEASE$) is a neurodevelopmental disorder characterized by somatic dysmorphic features, developmental and @PHENOTYPICFEATURE$.	has_symptom
+2260de1bef9e6f731f521d956fc9509fa14e1418	@DISEASE$ (CSS) is a neurodevelopmental disorder characterized by somatic dysmorphic features, developmental and @PHENOTYPICFEATURE$.	has_symptom
+9608fa9e6b030df8cfcd5189a64ff2afee3adf9f	Association between brain structural anomalies, electroencephalogram and history of @PHENOTYPICFEATURE$ in @DISEASE$ (Hunter syndrome).	has_symptom
+d146a3d96dd5f0314b7515ed4bb2bdd0f2127f64	Association between brain structural anomalies, electroencephalogram and history of @PHENOTYPICFEATURE$ in Mucopolysaccharidosis type II (@DISEASE$).	has_symptom
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	has_symptom
+ce032e89676a05ca59bf7c006d1919d79f77fe97	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and @DISEASE$.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+7b91ec4794fdad09846bf7e57115664932fd5255	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+e2b67faaccc5dde9f5dbfa059bb145ed868a787a	A consanguineous family with Hirschsprung disease, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-@DISEASE$).	has_symptom
+506c20afcb5e986bea995f1a2c8e54bb41b0c52b	A consanguineous family with @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-Shprintzen syndrome).	false
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	false
+98c32a753d68151d5f8143eb70c0010366cbf27c	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and @DISEASE$ (Goldberg-Shprintzen syndrome).	false
+b2f6d2f60bd0c91325e5131743d97c645501facc	In addition to physical manifestations, @DISEASE$ is associated with a?high prevalence of psychiatric disorders, such as @PHENOTYPICFEATURE$, schizophrenia and attention-deficit/hyperactivity disorder.	has_symptom
+48d6d55a0919efd459f350ba64306cdd7c2cd7a0	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, hypoparathyroidism, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	has_symptom
+09184a48dc201b006721af683763241ceb0bdb44	We describe 2 patients with a partial DiGeorge syndrome (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, @DISEASE$) and a rearrangement of chromosome 10p.	false
+73637361df0582ba48eb01afd2660fdbded8d33d	We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, @DISEASE$) and a rearrangement of chromosome 10p.	false
+e4e90cb5f408f75dd1c0c33c8b60aa0550d4e65b	We describe 2 patients with a partial @DISEASE$ (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+3f80c592691934cec8f99946f2d709dd6ec29022	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+2a2a4ac7e12a591bac8207719ca6c7b813d3f461	A 34-year-old man with partial @DISEASE$ suffered from seizures and @PHENOTYPICFEATURE$ from the age of three years.	has_symptom
+ac4aba4cf0a583c00cbbd5c095de8fb3876539c6	A 34-year-old man with partial @DISEASE$ suffered from @PHENOTYPICFEATURE$ and mental retardation from the age of three years.	false
+985b2617379bc808812c54eaf0980664582edacd	A 34-year-old man with partial DiGeorge syndrome suffered from @PHENOTYPICFEATURE$ and @DISEASE$ from the age of three years.	false
+4f807d809e2084e341bf13dda7938f408bfc6a1f	DiGeorge syndrome (@DISEASE$) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+1ddf6107844f4d0a7e8c5b77991c32d3fb9ffe49	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+d92950f3d8adc0a32f17c9926fbf1c766694c2f0	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+6cacfce95c6f4ccf75434e4a55a2eb6b2951702f	DiGeorge syndrome (@DISEASE$) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+033ff69a6ec16b890c3c2c48d4751872b3f86a33	DiGeorge syndrome (DGS) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2bb7ff4067f81afcd41d3f867a8002628630a600	Hirschsprung disease, unusual face, @PHENOTYPICFEATURE$, epilepsy, and congenital heart disease: Goldberg-@DISEASE$.	has_symptom
+3a1103d2fd49487d6c8208bf32e1b371854c59c1	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	has_symptom
+c2205167510e6873ea2d3b27882c6db3759601f2	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability and primary hypoparathyroidism.	false
+f5748657da0047bec11b13f3750eb31e7f519ab3	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability and primary hypoparathyroidism.	false
+43086dd736a233ab24d64a4766933825e0057a1d	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$ and primary hypoparathyroidism.	false
+2758a82759e21fdb6cbde58d624ee34ef7b446ed	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability and primary @DISEASE$.	false
+624c4fae56d4975369383dc960a0d1df77fd6a2e	Goldberg-@DISEASE$ (GOSHS, MIM #609460) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, specific facial gestalt and Hirschsprung's disease (HSCR).	has_symptom
+554550ad7319b836299961411969410b2f6c1123	We describe a delayed diagnosis of @DISEASE$, in a 51 yr-old woman, with past medical history of epilepsy, @PHENOTYPICFEATURE$, chronic psychosis, nephrocalcinosis.	has_symptom
+4d898835b98b815048056eecfdf0c0efe96d507b	The patient has some features which have been reported in individuals with @DISEASE$/VCFS, including: facial dysmorphia, @PHENOTYPICFEATURE$, long slender digits and genital anomalies.	has_symptom
+0e5478130bcd9ca9a922a16a50a87816638cc92c	The patient has some features which have been reported in individuals with @DISEASE$/VCFS, including: facial dysmorphia, mental retardation, long slender digits and @PHENOTYPICFEATURE$.	false
+937af49ef493256fc0ef9d001605fadab9f7226d	The patient has some features which have been reported in individuals with DGS/VCFS, including: facial dysmorphia, @DISEASE$, long slender digits and @PHENOTYPICFEATURE$.	false
+deb1d9452fb9f04c87df4339dacfddbd63b646d2	The patient has some features which have been reported in individuals with DGS/VCFS, including: @PHENOTYPICFEATURE$, @DISEASE$, long slender digits and genital anomalies.	false
+4a42013b9fc1ff6cdd57b9c7809ae5009b2efa3f	The patient has some features which have been reported in individuals with @DISEASE$/VCFS, including: @PHENOTYPICFEATURE$, mental retardation, long slender digits and genital anomalies.	false
+c474a1bb6ca97b2a6c44385544e640a580ce7b8d	The A-ZIP/F-1 transgenic mouse is a model of @DISEASE$ with severe insulin resistance, @PHENOTYPICFEATURE$ and hyperlipidemia.	has_symptom
+568e474bc2b051af7b7d360995ab271e1a689140	The A-ZIP/F-1 transgenic mouse is a model of lipoatrophic diabetes with severe insulin resistance, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+986ad29cc8f729c1057d242462ab3fc0dc3bc1d5	The A-ZIP/F-1 transgenic mouse is a model of @DISEASE$ with severe insulin resistance, hyperglycemia and @PHENOTYPICFEATURE$.	false
+89329e83fd110afdc9fe7cbe3c59124e966fede5	The A-ZIP/F-1 phenotype strikingly resembles that of humans with severe @DISEASE$, including the lack of fat, marked insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, and fatty liver.	has_symptom
+62fc450306a731959eb6bb59eee0eea71a349de1	The A-ZIP/F-1 phenotype strikingly resembles that of humans with severe lipoatrophic diabetes, including the lack of fat, marked insulin resistance and @DISEASE$, @PHENOTYPICFEATURE$, and fatty liver.	false
+f6b5c1c715267aef2a9ec2f91aef1cb0a28f0977	The A-ZIP/F-1 phenotype strikingly resembles that of humans with severe @DISEASE$, including the lack of fat, marked insulin resistance and hyperglycemia, @PHENOTYPICFEATURE$, and fatty liver.	false
+f54c5e638c12814601e3104eaedabf8878331d96	The hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @PHENOTYPICFEATURE$/arthritis, abdominal complaints, skin rash, and headache).	has_symptom
+41ff18f15fc3ec01949aea312a2cf8824b6d8762	The @DISEASE$ (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+7aa418333a7f98630c9a952cb2c1d93e11a42285	The hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+6bc0eb4607ffde129a1658fbb780f277f9f10dc9	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, @DISEASE$, and headache).	false
+122e2c12c9ddbdcaac9c98edecd67a98ac4409d3	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive inflammatory disorder characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, @DISEASE$/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+b35d28604c983f3310558d7d7aee2a0096294617	The hyper-IgD syndrome (HIDS) is a rare autosomal recessive @DISEASE$ characterized by recurrent fever, increased serum IgD (normal value < 100 U/ml) and generalized inflammation (lymphadenopathy, arthralgias/@PHENOTYPICFEATURE$, abdominal complaints, skin rash, and headache).	false
+9608fa9e6b030df8cfcd5189a64ff2afee3adf9f	Association between brain structural anomalies, electroencephalogram and history of @PHENOTYPICFEATURE$ in @DISEASE$ (Hunter syndrome).	has_symptom
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	has_symptom
+ce032e89676a05ca59bf7c006d1919d79f77fe97	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and @DISEASE$.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+7b91ec4794fdad09846bf7e57115664932fd5255	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+236539e3c602121a8fa959fbcbe72c879c63596e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+2e1588c501d4e18da9109439b2bca3763b6d08ae	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+4dc5552732c333448a363e529d931d16ecb09376	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+704609e590576e417ec5ffc251d31f209f51a965	@DISEASE$ (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+3d5c95001cd6bceda2c7bd1ea75c6d1aa0e1beff	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e85f8b55c4f8d64ed205154f7c4cf5e8664fe43f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+2c644e5387a1fe63b22e003c4f7bc1e6b5b5d0b8	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+008842294426b63c331e19df8df9662951505bca	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, @DISEASE$ and hypodontia.	false
+54afebdd48a2125142be10a977656643525d4bcd	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	has_symptom
+15f608e025aa8cd72207cdae9ff2c766c3223344	@DISEASE$ (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	has_symptom
+5118ca3066412902297689403ccf842c410a7566	@DISEASE$ (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	false
+c4dbbdfc00f9837fd2fb314b1320911396742fee	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by clinical manifestations of severe hypodontia or anodontia, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	false
+b5e85d38c1c54b789b0b5d1c5bfe6879ec4c6291	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, @PHENOTYPICFEATURE$, @DISEASE$, and specific facial appearance.	false
+9169cda9ca4b8b2af862de73ce8d3656fe016aa2	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or @DISEASE$, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	false
+5958d75d8fde47e77b09583a81b1f406f2c6cac9	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe @DISEASE$ or anodontia, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	false
+8f8a94ffc77a08f4a546084f67c87ed888b12a4d	@DISEASE$ (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, anhidrosis or @PHENOTYPICFEATURE$, and oligodontia.	has_symptom
+4c22a7618e135618667489daf1d0f4e7461985d5	Anhidrotic ectodermal dysplasia (@DISEASE$) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and oligodontia.	false
+2ceb972088313fa5eb0a3db67dfe9bbbea03590f	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or hypohidrosis, and @DISEASE$.	false
+703441c6cc42fb307aa31184e8f8a3811eb22a5e	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or @DISEASE$, and oligodontia.	false
+20603aeccc8275bb15e712760b7dfb428204b83a	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or @DISEASE$, and oligodontia.	false
+b89623b31a285cb88387f154997f9719394db531	Anhidrotic ectodermal dysplasia (EAD) is an inherited @DISEASE$ with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or hypohidrosis, and oligodontia.	false
+519a258ea7e00203b2d5c4a6ec5c7c83d8e3d95c	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and @DISEASE$.	false
+316145734a9c86f2dd7e128623cf5d0550a5805c	Anhidrotic ectodermal dysplasia (@DISEASE$) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or hypohidrosis, and oligodontia.	false
+d322ad1e29d5ea4738166dbba800a7cc826e58da	@DISEASE$ (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and oligodontia.	false
+85fb67ff61475845f13e544a77e7800f401c3859	Anhidrotic ectodermal dysplasia (EAD) is an inherited @DISEASE$ with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and oligodontia.	false
+a06053deff022f1894083259d8b563684737e0db	@DISEASE$ (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or hypohidrosis, and oligodontia.	false
+785776b99166d1ebe30f2c3dcc161715e7d1e187	@DISEASE$ (HED) is a rare congenital anomaly complex characterized by hypodontia, hypotricosis and @PHENOTYPICFEATURE$.	has_symptom
+e740d5c3b06f513c843891e10314762f9bcdf373	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare congenital anomaly complex characterized by hypodontia, hypotricosis and @PHENOTYPICFEATURE$.	has_symptom
+1a93464c8203f34c3b09f47fe87adc48a299c12d	@DISEASE$ (HED) is characterized by @PHENOTYPICFEATURE$, hypodontia, sparse hair, and characteristic facial features.	has_symptom
+92af9f9579df0272e6fed263f1429fad0cb58493	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, hypodontia, sparse hair, and characteristic facial features.	has_symptom
+3609261cb150212f014b0947201a13e9024b82ca	Hypohidrotic ectodermal dysplasia (HED) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, sparse hair, and characteristic facial features.	false
+80631b058fde81fe53840861af1c2a5ea5cf5989	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by hypohidrosis, @PHENOTYPICFEATURE$, sparse hair, and characteristic facial features.	false
+018cd99cbf770ae36af017e7e553a3817c99942d	@DISEASE$ (HED) is characterized by hypohidrosis, @PHENOTYPICFEATURE$, sparse hair, and characteristic facial features.	false
+b0e14e6a3dd42122af71d5ed5a584a67a5134340	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and hypodontia.	has_symptom
+6cc8f2d2052ec7cffb2238d0c9a6c527d3dbf916	@DISEASE$ (HED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and hypodontia.	has_symptom
+fc1888706aa7784c1f9e59c362d96bf1b39b4c68	Hypohidrotic ectodermal dysplasia (HED) is characterized by severe @DISEASE$, @PHENOTYPICFEATURE$, and hypodontia.	false
+c6a6ef763c0171d29c8421b837df8bb3e3057f26	@DISEASE$ (HED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and hypodontia.	false
+e195b9ea0659ff204833a66db0f4795b13a057cb	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and hypodontia.	false
+d09a87f8b13f733cd9a2fc3af2c0059fa768dc77	Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b8bef6777fd9a527e4764e06c88b058af5ba6cf1	It is characterized by classical triad of hypotrichosis, anhidrosis/@PHENOTYPICFEATURE$, and hypodontia/anodontia. Here, we describe an Indian boy affected with @DISEASE$ and rare features including ankylosis of temporomandibular joint and cleft palate.	has_symptom
+49d675d3bf3b5c41692efec9adb4ddb961f646c3	It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with @DISEASE$ and rare features including ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$.	false
+90a42a35397e7941a4b9c6e0217a70180ceaba2a	It is characterized by classical triad of hypotrichosis, anhidrosis/@DISEASE$, and @PHENOTYPICFEATURE$/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+25294119a0a4a3a7bd03223b3e7e36be65599baf	It is characterized by classical triad of hypotrichosis, @PHENOTYPICFEATURE$/hypohidrosis, and hypodontia/@DISEASE$. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+7cd9a78767a8312b9e2c55ce388efb2a6b3e6a55	It is characterized by classical triad of @DISEASE$, anhidrosis/hypohidrosis, and @PHENOTYPICFEATURE$/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+a82ab8e6083cf7dc0b1fb5e9fa1083a71b186ecd	It is characterized by classical triad of hypotrichosis, @PHENOTYPICFEATURE$/@DISEASE$, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+4e648363983c4296166a0fa827efeca5df504f33	It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/@DISEASE$. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$.	false
+c16b348e688a2bfab80610248840db6e6c679819	It is characterized by classical triad of hypotrichosis, @PHENOTYPICFEATURE$/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with @DISEASE$ and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+e88723fd97e92a3ec3e8766267e01aafe25976bc	It is characterized by classical triad of @DISEASE$, @PHENOTYPICFEATURE$/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+2dd78031b4e48a6bcc8511a7eca15b90a48c6c10	It is characterized by classical triad of hypotrichosis, anhidrosis/@DISEASE$, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$.	false
+617005c183dce171cabe7d42b552c0f756f2e203	It is characterized by classical triad of @DISEASE$, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$.	false
+4d7a5121e84a5c52e00b24df52fdd97f8e458d55	It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and @PHENOTYPICFEATURE$/@DISEASE$. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+cd249715d2bda61b2c2f9f80bf9b8faedee32813	It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and @PHENOTYPICFEATURE$/anodontia. Here, we describe an Indian boy affected with @DISEASE$ and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+3dde54ed1847eaab22326a879657b7eb77a9f1fd	@DISEASE$ (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	has_symptom
+543a85f6715c64ce2911a0fbece5d9a2b9f8b71a	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by hypotrichosis, hypodontia and @PHENOTYPICFEATURE$.	has_symptom
+40dc926c397c0abbb637159512cee89f7975ddec	@DISEASE$ (HED) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+49182848294f3bddae860ecc7dabc558d8c04dbf	Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a26d82995473a47c74742d87c41beb672b718fa4	Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and @DISEASE$.	false
+225fc6d0cba9bc35b433463bc8e9c9d87b4fa588	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	false
+b99d29e688c1d50271aa7f0ed600cefc1a6be4e1	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare skin disease characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+46596e70c7617eb08915df77abb5724bb5bb240c	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	false
+86e86dfef81c37e3268046d9cc3d491060e49e45	@DISEASE$ (HED) is a rare skin disease characterized by @PHENOTYPICFEATURE$, hypodontia and hypohidrosis.	false
+cd38d93bf644d36081f9dd8b5c222b14e4aa9f8b	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+236539e3c602121a8fa959fbcbe72c879c63596e	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+2e1588c501d4e18da9109439b2bca3763b6d08ae	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+4dc5552732c333448a363e529d931d16ecb09376	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+704609e590576e417ec5ffc251d31f209f51a965	@DISEASE$ (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and hypodontia.	false
+3d5c95001cd6bceda2c7bd1ea75c6d1aa0e1beff	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e85f8b55c4f8d64ed205154f7c4cf5e8664fe43f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+2c644e5387a1fe63b22e003c4f7bc1e6b5b5d0b8	@DISEASE$ (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+008842294426b63c331e19df8df9662951505bca	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, @DISEASE$ and hypodontia.	false
+cbb162bd22bf658745e55a44cc2aee7ca4010711	@DISEASE$ (HED) is a rare genetic disorder characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+65664ec26819aac6b7d66394b393b31fb26bc2c2	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare genetic disorder characterized by hypotrichosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+fd54ddbd5036a61601a047f5090c3c492d67567d	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+38ee8fe6df3e0d6a1c74cc3c6fb12d7051b52599	@DISEASE$ (HED) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+14710543f54064e6db2a2e69043817bb82aacfab	Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by @DISEASE$, hypohidrosis and @PHENOTYPICFEATURE$.	false
+ae1425868dd4c2186d75c5d61aa8f800a5cc3bfa	Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by hypotrichosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+770f9b16342d9d3b5e269943c9e73a5bdb1125ce	Hypohidrotic ectodermal dysplasia (HED) is a rare @DISEASE$ characterized by hypotrichosis, hypohidrosis and @PHENOTYPICFEATURE$.	false
+fe3ce8197f1c877dbefc5f8678e09d4c47cf91aa	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), vomiting, diarrhea and @PHENOTYPICFEATURE$ are indicative of @DISEASE$.	has_symptom
+737514b3358e390decc50ac1c73e074028d3383b	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), @PHENOTYPICFEATURE$, diarrhea and @DISEASE$ are indicative of Wolman disease.	false
+877129c71d0d3bbb5ad197888230da69b4550b09	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), @PHENOTYPICFEATURE$, diarrhea and failure to thrive are indicative of @DISEASE$.	false
+5ad4977ca6ff728a40a9085d5518507649d1c7c6	In infants, poor weight gain, massive hepatosplenomegaly, calcified adrenal glands (present about 2/3 of the time), @PHENOTYPICFEATURE$, @DISEASE$ and failure to thrive are indicative of Wolman disease.	false
+9f51fc66b7e04c35ba319f8212ffb9201aa7a427	Wolman disease is the infantile form of autosomal recessive @DISEASE$, typically presenting in early infancy with diarrhea, massive hepatosplenomegaly, @PHENOTYPICFEATURE$, and calcification of adrenal glands.	has_symptom
+12159612f65290b9d8bd0a03bcfc544d557c2018	@DISEASE$ is the infantile form of autosomal recessive acid lipase deficiency, typically presenting in early infancy with diarrhea, massive hepatosplenomegaly, @PHENOTYPICFEATURE$, and calcification of adrenal glands.	has_symptom
+8d3dc7f7f04743eb6fa2b05eccec2b6aca7128c1	The complete deficiency of LAL is responsible of @DISEASE$ (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	has_symptom
+b9aefd18ef63c621e4b4a5e6d0edd34a8353959c	The complete deficiency of LAL is responsible of @DISEASE$ (WD), a severe systemic disease manifesting in the first days of life with @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+4a2bc6a77185a06a58cf95578f2f607a7426cb81	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe @DISEASE$ manifesting in the first days of life with @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+2e9f576214fce6f41b291125e878419c8fe9bc24	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with @PHENOTYPICFEATURE$, diarrhea, @DISEASE$, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+fae535b2435a11b2ddb2e0ac280e5d044a208649	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia, and @DISEASE$.	false
+1b028b49fed6d0641de21b1387ab14f6d02e0c1e	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, hepatosplenomegaly, jaundice, anemia, and thrombocytopenia.	false
+7cea24acde54922b76983db6d23e65b98ab8eebf	The complete deficiency of LAL is responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, @DISEASE$, and thrombocytopenia.	false
+7238865e14779ec48803c993b7680f5d77ecab57	The clinical features of @DISEASE$ include early onset of vomiting, diarrhea, @PHENOTYPICFEATURE$, hepatosplenomegaly, and bilateral adrenal calcification.	has_symptom
+23569332d57e69f44ba597df8cafc4d01d649b15	The clinical features of Wolman disease include early onset of @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification.	false
+5870f682dac26217166c6a4d4a7efd814ff3c4e5	The clinical features of Wolman disease include early onset of @PHENOTYPICFEATURE$, diarrhea, @DISEASE$, hepatosplenomegaly, and bilateral adrenal calcification.	false
+e11945331aba9520bfd238060daa5dd6260fa571	The clinical features of @DISEASE$ include early onset of @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification.	false
+f4e321273344c8c110e7ef7550e9ebf781c15684	@DISEASE$ presenting as acute @PHENOTYPICFEATURE$ and severe thrombocytopenia.	has_symptom
+ed00b3b76cb2acc84454ef7e4f8900746221a4f3	A series of 14 patients with @DISEASE$ and @PHENOTYPICFEATURE$ was compared with non-ataxic typhoid patients.	has_symptom
+396c0f0c859889cb8e4c64a526a2247cc23db461	@DISEASE$ presenting as @PHENOTYPICFEATURE$.	has_symptom
+a2a0f157bb320b678fb9a1a481a6d803382baa1c	@DISEASE$ complicated by chloramphenicol toxicity, @PHENOTYPICFEATURE$ and psychosis.	has_symptom
+2ed7cf90ccb5c32d273804b17fd7b3e17ff0b66e	@DISEASE$ is a well-characterized chromosomal disorder consisting of neurodevelopmental impairment, @PHENOTYPICFEATURE$, cardiac malformations, genital and urinary tract defects, as well as digital anomalies.	has_symptom
+17bd3d32dcc18147cae92bd8e25fe5ee505ae2bd	The present study examined the effect of cyclosporine A on GBM structure and the progression to @PHENOTYPICFEATURE$ in a canine model of @DISEASE$.	has_symptom
+a22f66e3217fd16f6f7622b770c25b8cd978d140	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, hearing loss, lenticonus, and a central and peripheral dot-and-fleck retinopathy.	has_symptom
+18dcdbfc39b800d66dd73e682f4a88ebc57bde57	Female subjects with @DISEASE$ have a single COL4A5 mutation, germ cell mosaicism in affected tissues and typically develop @PHENOTYPICFEATURE$ later or less often than male subjects.	has_symptom
+dbeec8782551c3e92c8d8c36468b599363a28dc8	Recently, gene mutations affecting the alpha 5(IV) collagen NC domain have been reported in patients with @DISEASE$ who display GBM destruction and progressive @PHENOTYPICFEATURE$, which are usually milder in female patients.	has_symptom
+e7eeb39b59dc94a50807be583b7720de2048f17a	Previous studies of @DISEASE$ demonstrated that "severe" COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset @PHENOTYPICFEATURE$, hearing loss, and lenticonus in affected male patients.	has_symptom
+86778726074c02d0761d6d26f6381ee02dc4daa3	@DISEASE$ is a form of progressive @PHENOTYPICFEATURE$ caused by pathogenic variants in the COL4A5 gene.	has_symptom
+9074528c31a130324dd3808dad57a6ea53964df8	Females with @DISEASE$ (XLAS) have variable phenotypes, from asymptomatic hematuria to @PHENOTYPICFEATURE$.	has_symptom
+de44c8c6b099eade9802684d1635e0ad167cd4ae	In @DISEASE$, mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen result in progressive @PHENOTYPICFEATURE$.	has_symptom
+9ac5dba878740b5a7a3906fd3c8d33aa5388f346	This study describes the first COL4A4 mutation in an individual with biopsy-proven TBMD who did not have a family member with autosomal-recessive or @DISEASE$, inherited @PHENOTYPICFEATURE$, or deafness.	has_symptom
+1f5757c1e036af11b44a23e463c434cdc4e81673	This study describes the first COL4A4 mutation in an individual with biopsy-proven TBMD who did not have a family member with autosomal-recessive or X-linked Alport syndrome, inherited @DISEASE$, or @PHENOTYPICFEATURE$.	false
+da00b0a0fe08109fa5dddc62c3d843ab41d41023	This study describes the first COL4A4 mutation in an individual with biopsy-proven TBMD who did not have a family member with autosomal-recessive or @DISEASE$, inherited renal failure, or @PHENOTYPICFEATURE$.	false
+64cab6fe59058a960886ceac0014d60a43976c8d	Turner's syndrome (TS) is characterized by typical @DISEASE$ features, short stature, @PHENOTYPICFEATURE$, streak gonads, infertility, hearth and kidney malformations.	has_symptom
+5e5f4979079d3864bc1732d34da7206574035543	Turner's syndrome (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, @DISEASE$, streak gonads, infertility, hearth and kidney malformations.	false
+dd2bf5d477fa01bea52c9482d318640ff94fa28a	Turner's syndrome (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, @DISEASE$, hearth and kidney malformations.	false
+456169e07422f99503e4ab46e667d1b11c3eec82	Turner's syndrome (TS) is characterized by typical @DISEASE$ features, short stature, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and @PHENOTYPICFEATURE$.	false
+fe88d60394919cca00bf5f96217afe79e318b51c	Turner's syndrome (TS) is characterized by typical facial features, short stature, hypergonadotropic hypogonadism, streak gonads, @DISEASE$, hearth and @PHENOTYPICFEATURE$.	false
+383dbb3af2d523756e443b0eb6537f3dd143f1f3	Turner's syndrome (TS) is characterized by typical @DISEASE$ features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and kidney malformations.	false
+681604ebdc6239619407ef9a16228f0f8af10641	Turner's syndrome (TS) is characterized by typical facial features, short stature, @DISEASE$, streak gonads, infertility, hearth and @PHENOTYPICFEATURE$.	false
+c0b3e3194123746ffd224181e2b8f96912b6d477	Turner's @DISEASE$ (TS) is characterized by typical facial features, short stature, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and @PHENOTYPICFEATURE$.	false
+8432c582e2401cd772dab3690072f6996d73a9f8	Turner's @DISEASE$ (TS) is characterized by typical facial features, @PHENOTYPICFEATURE$, hypergonadotropic hypogonadism, streak gonads, infertility, hearth and kidney malformations.	false
+1dc854e2ea3777663cbfafae2c98489117814f52	Our case highlights the possible association of different paraneoplastic syndromes: initially scaling erythroderma, followed by erythema gyratum repens associated with @DISEASE$, @PHENOTYPICFEATURE$ of the ears and eosinophilia.	has_symptom
+4a59ab28853f021d5c37ae87a1a9b87b57c3f641	The object of the study was to assess the clinical efficacy of topical tacalcitol against ichthyoses with retentive @PHENOTYPICFEATURE$; X-linked ichthyosis (XLI), ichthyosis vulgaris (IV), and @DISEASE$ (AI).	has_symptom
+4e520e1dc18130b0ca756995ef2df08a6e329e7c	Erythema gyratum repens was associated with @DISEASE$, @PHENOTYPICFEATURE$ of the ears and eosinophilia.	has_symptom
+1de1ed0745f700cc9474739d4bb6b1c2200b95b9	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and @PHENOTYPICFEATURE$.	has_symptom
+b2f4a0611fe4dc72edc265533822a6dec6f3a335	Classical @DISEASE$ (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and mental deterioration.	false
+b0f5d31b34fb5de51dc07f6ebbbf3b2c95107090	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an @DISEASE$ of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and mental deterioration.	false
+4cf33ad54a5ead242c8624e76fefedb903765019	Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by @PHENOTYPICFEATURE$, loss of vision, and progressive motor and @DISEASE$.	false
+351862789fe4cf38499e3a0b283287e11da0b24a	We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, @PHENOTYPICFEATURE$, distal finger hypoplasia, left inguinal hernia, typical facial appearance for @DISEASE$, and cecal duplication cyst.	has_symptom
+47bf31c75a3aeb0f1e224d97f373ee58f63c91ee	We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, @DISEASE$, distal finger hypoplasia, left @PHENOTYPICFEATURE$, typical facial appearance for Fryns syndrome, and cecal duplication cyst.	false
+fa19227752f2a95809dc94e8a015188c4a1d04a8	We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left @PHENOTYPICFEATURE$, typical facial appearance for @DISEASE$, and cecal duplication cyst.	false
+9d596551ad7cdf87382e62f5d5c76cf0e83f308a	We report a male 20-day-old baby with @DISEASE$ (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left @PHENOTYPICFEATURE$, typical facial appearance for Fryns syndrome, and cecal duplication cyst.	false
+c02180a4fda4f7fb1eb2568075973c68fc439944	@DISEASE$ is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a @PHENOTYPICFEATURE$ / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies.	has_symptom
+b1a80c7ba12b2201e00416536fa2810d4d37bdb0	@DISEASE$ is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and @PHENOTYPICFEATURE$.	false
+d1ef104b9199f48746626fc4545978e9637bed8e	Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a @DISEASE$ / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and @PHENOTYPICFEATURE$.	false
+39f691e3bf29ae1fe7677ee70a08cc4fbbce62e3	Fryns syndrome is a lethal autosomal recessive @DISEASE$ which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and @PHENOTYPICFEATURE$.	false
+6e06a3eb94ad72016ba2a571fa469d50cae6c1f9	Fryns syndrome is a lethal autosomal recessive syndrome which includes @DISEASE$ (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and @PHENOTYPICFEATURE$.	false
+e06964044d555159bbd153f4180909bcdbabee52	The detection of the @PHENOTYPICFEATURE$ was instrumental in suggesting the diagnosis of @DISEASE$ in a fetus which also had a diaphragmatic hernia.	has_symptom
+292cc85db96220b1a66d3aa2988615e55582ee00	@DISEASE$ is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, @PHENOTYPICFEATURE$, diaphragmatic hernia, and distal digital hypoplasia.	has_symptom
+687a3d0f03dfcd03028441002c428025e66ef0af	To demonstrate the ocular histopathologic findings in @DISEASE$, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, @PHENOTYPICFEATURE$, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios.	has_symptom
+848ce2e8017474de475104f705a9c43d90a6f432	To demonstrate the ocular histopathologic findings in @DISEASE$, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal @PHENOTYPICFEATURE$ and polyhydramnios.	false
+38a6e9404114ae1aa3ad4d6aa3b232a026f508b0	To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly @DISEASE$, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal @PHENOTYPICFEATURE$ and polyhydramnios.	false
+443a91ec35f555ad3ef0520f795901ef15937f59	To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple @DISEASE$ syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal @PHENOTYPICFEATURE$ and polyhydramnios.	false
+913c70417e5698bb70b4903d8e3443bf61dd9339	To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, @DISEASE$, diaphragmatic hernia, lung hypoplasia, distal @PHENOTYPICFEATURE$ and polyhydramnios.	false
+e4419fa5da8a8f32a72909e3a60c52b21ed4868c	We report on a child with @DISEASE$ including lung hypoplasia, characteristic facial appearance, @PHENOTYPICFEATURE$, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death.	has_symptom
+cad17565a26ef34eb5f013ba553d14d08886bb5c	We report on a child with @DISEASE$ including lung hypoplasia, characteristic facial appearance, cleft palate, @PHENOTYPICFEATURE$, distal limb abnormalities, absent nipples, bicornuate uterus and early death.	false
+027e51096fbd29c7ce7e1f0b3996a69f0d17500a	We report on a child with @DISEASE$ including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal @PHENOTYPICFEATURE$, absent nipples, bicornuate uterus and early death.	false
+697b0ba9b8c326345887fb8a81c499754bfc7894	We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, @DISEASE$, @PHENOTYPICFEATURE$, distal limb abnormalities, absent nipples, bicornuate uterus and early death.	false
+5c582e2b78730fab30330f2b85d0686550f5a603	We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, @DISEASE$, cardiac anomaly, distal @PHENOTYPICFEATURE$, absent nipples, bicornuate uterus and early death.	false
+e0c26f32fd162c86bf8f3f8fef8e73a29ff3fb7f	Features include significant developmental delay and characteristic dysmorphic features as well as @PHENOTYPICFEATURE$, clubfeet, seizures, and short stature in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	has_symptom
+1035ce95adbfdff951a3d7e4ae87d3aec92e0ed4	Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, seizures, and @PHENOTYPICFEATURE$ in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+6113ff975cca2fd06247616500704b4071bd85f1	Features include significant developmental delay and characteristic dysmorphic features as well as @DISEASE$, clubfeet, seizures, and @PHENOTYPICFEATURE$ in some individuals, with a clinical diagnosis of Fryns syndrome in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+3aab53d04b6c3f76f3c5d42592afe295544f770b	Features include significant developmental delay and characteristic dysmorphic features as well as @DISEASE$, clubfeet, @PHENOTYPICFEATURE$, and short stature in some individuals, with a clinical diagnosis of Fryns syndrome in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+6be50e891fc72f3964fe3bdc4324dc9dae755dd8	Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, @PHENOTYPICFEATURE$, and short stature in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+2a7921822462188fb93bc864862601c245bc0e1b	We report on an infant with many manifestations of @DISEASE$ ("coarse" face, @PHENOTYPICFEATURE$, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p).	has_symptom
+32f1022d199adb85ab863a3d2012129aaad7b0dc	@DISEASE$ (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, @PHENOTYPICFEATURE$.	has_symptom
+e00f198cc061b48ed8552f513426dcd5c3f363c3	Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features, and, in some cases, mental retardation.	false
+6b2f009995b7b4db6a74f79203f5bdc0d960106f	Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features, and, in some cases, @DISEASE$.	false
+1f21746095c6b93c4c62e43151a4986ac7696cb1	@DISEASE$ (NHS) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features, and, in some cases, mental retardation.	false
+bda17df36cb03d2405fcde78dd5b59f8325d3828	Mutations in a novel gene, NHS, cause the pleiotropic effects of @DISEASE$, including severe congenital cataract, dental anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+10d40838cff6b09c8bcc76f1027e522658889bcf	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6496f157c43dec7f2860ddf907e1d03bdc0dc4e5	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+293945b30037ecfd7a0abd59e951084e57cc6b95	Mutations in a novel gene, NHS, cause the pleiotropic effects of @DISEASE$, including severe congenital cataract, @PHENOTYPICFEATURE$, and mental retardation.	false
+a6e41c2fb60b2e5f44dd67fb72eb5248d624870a	@DISEASE$ (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features and @PHENOTYPICFEATURE$.	has_symptom
+c7e35493d4e1420e55581fc9c29750ee3869ce5a	Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features and mental retardation.	false
+b72d81f31d03fb9d283b530e12051b415e9c70b4	Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features and @DISEASE$.	false
+7b4e323f3cd14291ca014f9f84b83320142b0cfc	@DISEASE$ (NHS) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features and mental retardation.	false
+eec400484dd16357ac5c903a1e2ed352acaf1a02	@DISEASE$ (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and @PHENOTYPICFEATURE$.	has_symptom
+d2ea9b9321eb1fe80b8ebfd7be3b2ff0d151404b	Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+78de38d3e17751bfab111f98870ddacd37946250	@DISEASE$ (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, @PHENOTYPICFEATURE$, facial dysmorphism and mental retardation.	false
+2a1dd3b31bac078cc4b5cb7c0cb2ba0cbdf8df03	Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism and mental retardation.	false
+c73ccac27a9c61b7798e7cb49013825097884937	Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, @PHENOTYPICFEATURE$, facial dysmorphism and @DISEASE$.	false
+dfe7b5b52ac5ec4630daacd7a9563e69441f890c	@DISEASE$ (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, @PHENOTYPICFEATURE$ and mental retardation.	false
+c18a3f8f595446a5146d86b3fb350f61bf6bc9a4	Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital @DISEASE$, dental anomalies, @PHENOTYPICFEATURE$ and mental retardation.	false
+f979f52e3b583b92f8a763a12e29207543024fc0	@DISEASE$ (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, @PHENOTYPICFEATURE$.	has_symptom
+2eaab3523575bdb88386edbf2a8df4258a6c9acf	Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, @PHENOTYPICFEATURE$ and, in some cases, @DISEASE$.	false
+17f3cc33da81a5f3994782a8067ab489f5b80db1	Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism and, in some cases, mental retardation.	false
+c5db043d1ec60578ca539667cb3a06eaf2154a7a	@DISEASE$ (NHS) is an X-linked developmental disorder characterized by congenital cataract, @PHENOTYPICFEATURE$, facial dysmorphism and, in some cases, mental retardation.	false
+8c2169f580ce05de13391da6e4d4223d55b167b6	Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, @PHENOTYPICFEATURE$, facial dysmorphism and, in some cases, @DISEASE$.	false
+6774e8eb42c05399bb608bddbb2b79a32f5f23e7	Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital @DISEASE$, dental anomalies, @PHENOTYPICFEATURE$ and, in some cases, mental retardation.	false
+bbbf444c2c249667af7abd101731ce3a5f8fe0c9	@DISEASE$ (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, @PHENOTYPICFEATURE$ and, in some cases, mental retardation.	false
+2a4f6decce3046b882f1bb27a486cb6fe402dfb6	@DISEASE$ (NHS) is an X-linked condition characterised by congenital cataracts, dental abnormalities, dysmorphic features, and @PHENOTYPICFEATURE$ in some cases.	has_symptom
+304fe4e7b099485b83a9f6ef48dcc173dbcf3830	@DISEASE$ (NHS) is an X-linked condition characterised by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features, and mental retardation in some cases.	false
+3d1386a5db78d971312e3005d19961b10cfee857	Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features, and mental retardation in some cases.	false
+6ddf1626d2fbdba5cfe31e64772f018bb552994e	Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, @PHENOTYPICFEATURE$, dysmorphic features, and @DISEASE$ in some cases.	false
+a7d51797f94968cee71f77c5bdbd10f75d9192ca	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+570a09807e82ef5745468294003ba79273a07c7f	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism, and intellectual disability.	false
+ba2282bba36d72878c821b991196ff53ab781ec0	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$.	false
+1fc655c977fc6ec8a3e3fc66e9bc4f27553e61d6	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, @PHENOTYPICFEATURE$, and intellectual disability.	false
+b61186edafc660dc95660dfe1a1875342f07a984	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e84a3b5df87df625e2d9a2eb131586cb17be609b	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, @PHENOTYPICFEATURE$, facial dysmorphism, and intellectual disability.	false
+406b88d0bad4772cedf1c67f2cef1d45083c77d3	Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital @DISEASE$, dental anomalies, @PHENOTYPICFEATURE$, and intellectual disability.	false
+caf761cd6790a1868b71669ea0d1439b1b46a66b	@DISEASE$ (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and @PHENOTYPICFEATURE$.	has_symptom
+f32634b1e12bb755272e8041b3594d0a40fabfc6	@DISEASE$ (NHS) is a rare X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$ and mental retardation.	false
+e45ce131c0374ec658d3d1958a7b60335ba0bc72	Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+428dca940c768e5988d219b391b62cbc3812611a	Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d0c2f596c54ce463b7e9780008330b34b630fe06	@DISEASE$ (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and @PHENOTYPICFEATURE$.	has_symptom
+ccf646d4b3ce88f48ea784f0e879f41705615b69	@DISEASE$ (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional @PHENOTYPICFEATURE$, characteristic dysmorphic features, brachymetacarpia and mental retardation.	false
+a8fecec3a824c69afe1b7ea137813a527590a541	Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital @DISEASE$, with occasional @PHENOTYPICFEATURE$, characteristic dysmorphic features, brachymetacarpia and mental retardation.	false
+d59080baf9e9059bbe1754dd10a2d5d7a69258a6	Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional @PHENOTYPICFEATURE$, characteristic dysmorphic features, brachymetacarpia and @DISEASE$.	false
+40dde2142102579bfd5462d85d7c69e2c192de82	@PHENOTYPICFEATURE$ in @DISEASE$: clinical and neuropsychological assessment in four families.	has_symptom
+cc655caf407c654af9f36512e0d23a11aaf5cf94	Despite intrathecal baclofen administration in patients with @PHENOTYPICFEATURE$ related to @DISEASE$ is not widely reported, we consider it as feasible treatment.	has_symptom
+b76c7ca0ec197106a01b1d496856a5c120cb6d6c	Amenorrhea, cyclical @PHENOTYPICFEATURE$, and a hypogastric mass in girls affected by @DISEASE$ could indicate acquired vaginal obstruction.	has_symptom
+a8d68dd2af29916cb7ee9d8fe6aacf24d9958f9b	@DISEASE$ (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, @PHENOTYPICFEATURE$, chorea and spastic paraparesis.	has_symptom
+0e6cb72428393a9ad5ced2b1f184dcf224eeaac7	Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with @PHENOTYPICFEATURE$, @DISEASE$, chorea and spastic paraparesis.	false
+3c75f578aa730213a91d1999028532d3c0bdacab	@DISEASE$ (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with @PHENOTYPICFEATURE$, ataxia, chorea and spastic paraparesis.	false
+ae8976c7c4f84b7b96966047911d10d0a175393f	Costeff syndrome (CS) is a rare autosomal-recessive @DISEASE$, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with @PHENOTYPICFEATURE$, ataxia, chorea and spastic paraparesis.	false
+c3dcee3e2654306fb1a8fbb83329977f59b1cb38	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	has_symptom
+bc47bd82edc22312e72c99a557bacacd32b6f56e	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @DISEASE$, and occasional @PHENOTYPICFEATURE$.	false
+b5383bf6dbd9cdb866bca5e10a201a9879b2e532	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, @DISEASE$, and occasional cognitive deficits.	false
+6a70bfce31655ffdf84618397514126e84cb0b6e	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+f41579f769cbcb3f9956aed0cfd0a173ec6bbc74	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+ef007c8094b9188db4ef050eb570eb39da414ac0	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, @DISEASE$, and occasional cognitive deficits.	false
+75f5e48524c931d8ea7d55d04864d310dae05ec2	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @DISEASE$, and occasional cognitive deficits.	false
+529e2c046d606faeacbb71d685907ef6913cebb4	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+034bd0695a2b84d6553829eb92f9550d27478362	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+98f7eff638241837e7c1bf497970a8c3cc2c7e83	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+1e829ff6813e1675115b2302b89817c6fd959fa3	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+1796ff5167870fb2e87759c02db9c78e9eacf551	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+9f78ca67ee4893183db5d959b875bb2507390504	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+0194be08664008717f5b47b507d509c18346af1b	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+b0e5252705fc961aafb3679a5eb930adada581a5	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+d1c30220396025864b65acc91cb2a02e964b7576	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+b2f07860e7c02880cac2912f6eef5b90cef39e4f	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+182580c909af36e23a625833506cfce69ba60ed5	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	has_symptom
+1165da9caa8f04a5a85c43cdfe8ea609e1158e99	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+9346ada57acb9defd07269d114482a517e93042e	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+6029b834a0f77565eac3796c251ab0f74b069b74	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @DISEASE$ (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+db05329e4a22184570587dd78f6c5a235cf079c2	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+3447dbc26bec648e1e7628614d3843c09e84104e	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-@DISEASE$-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+b09cf7f973aa573ec7bab9a760a1925561186411	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+1fb7d9928476f1de1a4e01a64c7972a0cb946f80	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+e449138d35b5a7ac40665a5a6ed833f429870348	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-@DISEASE$-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+d6713d5f3ae9de30a7e154a32afd44b6c3f89f8a	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+820e705424f0042b5b0ba5e5540171539f422883	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+f71c22c3fd6e7fff62aea7357a72d0c4be369b3b	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-@DISEASE$-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+0a7c573b63a7721521023bec693b7043f23d0602	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	false
+d4aed0e581b31f70a103e3235c93c52fc564c61e	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @DISEASE$ (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+16755e863cc1f9f808c8cfc2e4f20b21f61251e4	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+9be99ad7fb29a5885ee0a774d8eb3ed00934d485	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+95dd282e0f901998184878c19556a5abdd86a463	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	false
+c3b4c2369ee5eb1fdffd25d972cb746b30adac2c	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+3712343e39ae0fe6a4466f5ebf9dac87e890d31a	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+354d9305454a4304fe245580a24afde6bdd3e2ec	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @DISEASE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+0941c46cd935bc40c529f67a851bfadfd6b5df42	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+46139fa9bc05768480ebd26679fad8b8aa9b646a	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+ee8c03f4f00151843c3ecc483d669d354aecbcfa	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+18419ef346cf9b26fa90ee59b0fa07a7d55f99e8	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+82a29132fea588832c1b8ed4ef7ed310c9c385e2	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+5c2dce90cd8636346769561ee90a0d3811114d10	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+df636646fc69078a3fc3c8b4e5e73c6eab0639ab	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+7db0e6151ee575fb64dd522d03cbe3cabbcfb46c	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+551d761ea154fabc79647a4da99b2186242dc3ca	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+8e99763a1e5f5f0ff276a9d4c20cef544cafb565	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-@DISEASE$-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+94b1945049c9dde434aaac5dc3903e1c6ecae4fd	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+4913712cafffe803c43a0b5af93a470b77231caa	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @DISEASE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+21f9d94ed1972afc258c66571af63eb1d6a22656	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+6c400329b55f5fb8a0354b2868a5cfc7f6659094	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	false
+a1cc75b32ed1c50cc744f08e6d03fde18e33008e	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+02da916b79c2da4e71d8e7b19e1ad53aaf8460d9	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+16b8f417ec21129a3b3cd41687566da9226e8918	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+c5a8d01435d53d5d2d14918300e9d8f4bd103c2a	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of @PHENOTYPICFEATURE$ and spasticity.	has_symptom
+2fd7751ad105aeed4521151d4db4d9f4ebcbbb74	Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e1bdc3a9cfa7d464b11fad4b3e88a936271c8066	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and @PHENOTYPICFEATURE$.	false
+8d82f5a6fcc91958815fe039d3f49f3fed402be6	Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @PHENOTYPICFEATURE$ and choreoathetosis with later onset of @DISEASE$ and spasticity.	false
+80d975bdf633edc5a7776477680fc4987deb4275	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @PHENOTYPICFEATURE$ and choreoathetosis with later onset of ataxia and spasticity.	false
+01de6954e9c3d738afe7cbcf62996e1e1a9206bc	The @DISEASE$ syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, @PHENOTYPICFEATURE$, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia.	has_symptom
+29f8ad28c5c72a7ce783cf8b71c43d4130e941e8	The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by @PHENOTYPICFEATURE$, congenital @DISEASE$, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia.	false
+ed6e24d9ad9e36de4570c9fed6f408d498c833ce	The CCFDN @DISEASE$ is a complex phenotype involving multiple systems, characterized by @PHENOTYPICFEATURE$, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia.	false
+5963ef2cb5b59d6f1e07334aabbd3d1e4fb7099b	The @DISEASE$ syndrome is a complex phenotype involving multiple systems, characterized by @PHENOTYPICFEATURE$, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia.	false
+c1f95747a585a561f07c60277e36983a0781ff0f	The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by @PHENOTYPICFEATURE$, congenital cataracts, microcorneae, delayed early motor and intellectual development, @DISEASE$, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia.	false
+7e322cbe4f3afaca391fb00e1a515f4a6cbcc206	Two unrelated patients with @DISEASE$ and very @PHENOTYPICFEATURE$ since birth are reported.	has_symptom
+47c7da2f159164fe250eca8fd9ec6031580b5928	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, and genitourinary anomalies.	has_symptom
+dacb197383cc9937b75c617c5fd33bf7efa13e74	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+274c8e5d02d56ac411de92a1ed96a97c418591fe	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+71a892e7e0839541ef25a6ff93f9c181dbc347a4	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+99eca64e07ec7790c0023cd1a788d72b3acf1908	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+83a6c5d8767b28493981ed4ea731ef5d74795522	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+4b25c4ee2035f7177f7ce8ebde24804f2c0f4973	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+6caf3e83aa30a5742a27cc8985ee4010086ed871	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+8ce3850503e06c1f6d73f54d8cf9e23785c77f85	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+313f67d072857d5a12e0aaa08d8495d2ee1697cb	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+b167c3fbb6196c26bb3fca1096d2f190a45c2a42	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+306fd5ae0a07e483fdea75c8f730daeda52989b1	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+51ae96958257e1c13bccc8e0344e6e1dd0bc0e19	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+79b0d4957ac892bdc16c087746681354b4bfd55b	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, short stature, and genitourinary anomalies.	false
+bc701b14821e9ec5cbc859e9b9de5b8d7cb321a4	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+fa4266b21af336b023e15806570949445a7dba50	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+ff672bebb5ecc623b2675137fba918c4eb688859	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+7cfb70c704cbcf12532195141f8229e5fcfdcf66	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly @DISEASE$ characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+8097c1d3c1614f3298da2ec4e573351c465f2a6a	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, @DISEASE$, and genitourinary anomalies.	false
+a999b745cbae9a49f5defe76d451691ddcfcda74	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+4613fa6158ec1750245cc43993497b221f7a8345	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+aea949b28e45ac5acdda3b264f94b97f5d2559a7	Mowat-Wilson syndrome is a recently delineated multiple @DISEASE$ syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, @PHENOTYPICFEATURE$, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+77a112f665530534990a1b9b4e8075cfdb5a5875	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+94abb3c1c5535ea41bea37069ce488d92cdaac4a	Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, @DISEASE$, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+74863c734f071e97147ad847f03a1dcf69f19b67	@DISEASE$ is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with @PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.	false
+5ace4098e9aec96020aa129ac9a7efe470fbf53b	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, @PHENOTYPICFEATURE$, hypotonia, and @DISEASE$.	has_symptom
+24343f18bc09a0cc9316941afecb6d998e9806ae	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including @PHENOTYPICFEATURE$, seizures, congenital heart defects, microcephaly, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+2ef54bfec1b1c3f31a30c052744036d3ee5e3808	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+89f6deffea4524fc6cb5c051eb526f64a6da2841	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, @PHENOTYPICFEATURE$, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+2de6fd8c1e224a339d1c5d3b140ff25625ce2fce	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, @PHENOTYPICFEATURE$, short stature, hypotonia, and @DISEASE$.	false
+0e454e4e313f954b7f156462ca5db985c6e737fe	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+9a092128b3ea88a4b02daae617833902a2bf3763	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+4e8480f5107132d36ebffd2dfae0aeba533626bb	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart defects, microcephaly, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+f151321825f92c7651f00912fb90e087c066d49b	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including @PHENOTYPICFEATURE$, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+d38e1e0a31878c29816982f3cb615a2ab1dfc5de	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, @PHENOTYPICFEATURE$, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and @DISEASE$ are particularly important clues for the initial clinical diagnosis.	has_symptom
+056b1e6b47ccaf5b4ec953643ca5ad0d53773bbe	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, @DISEASE$, seizures, @PHENOTYPICFEATURE$, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+d4330683ac5c95267e65d714ac807bbad2bf5ecd	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, @PHENOTYPICFEATURE$, corpus callosum agenesis, congenital heart defects, @DISEASE$, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+9e1de76f349f00be3f2e53d6da24bb17996ed5fb	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+493156dfd32f445aa6f08fe2494195fc8cdb79f2	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, @PHENOTYPICFEATURE$, short stature, seizures, corpus callosum agenesis, congenital heart defects, @DISEASE$, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+9e83befb2efd83deee6cd741581fa306ec8f48ce	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, @DISEASE$, seizures, corpus callosum agenesis, @PHENOTYPICFEATURE$, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+53dc242206cc2beaa48ecf06668f59f50c882e9d	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+d28b8454536281381f5e818899ecb13f18c3d342	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, @PHENOTYPICFEATURE$, hypospadias, and @DISEASE$ are particularly important clues for the initial clinical diagnosis.	false
+c1f540b02c769bb1ecb1f8c2c7fc29f54b4c72e3	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, @PHENOTYPICFEATURE$, congenital heart defects, @DISEASE$, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+a4d625b5ea74a528f21ef782c69d31a3ecdb8498	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, @PHENOTYPICFEATURE$, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and @DISEASE$ are particularly important clues for the initial clinical diagnosis.	false
+7d677c07e3957eb934d7515c544709f7ee4b9a73	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, @PHENOTYPICFEATURE$, congenital heart defects, hypospadias, and @DISEASE$ are particularly important clues for the initial clinical diagnosis.	false
+f1a1883826c8b352597274f9bd9c52f5167ddd0b	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, @PHENOTYPICFEATURE$, @DISEASE$, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis.	false
+178a7d6c549cdf36abceb6c1343cc16bafb39564	The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, @PHENOTYPICFEATURE$, corpus callosum agenesis, congenital heart defects, hypospadias, and @DISEASE$ are particularly important clues for the initial clinical diagnosis.	false
+96ed7773d442aa9e1f869f2eab3a6d37d30c4e25	Congenital anomalies, including @DISEASE$ (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, agenesis of the corpus callosum, and @PHENOTYPICFEATURE$ are common.	has_symptom
+73f95892a44e245808c980f50827e80f54b0b355	Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, @PHENOTYPICFEATURE$, and @DISEASE$ are common.	false
+b29bfcbf874f533ad17798d52119a3e062c8c384	Congenital anomalies, including Hirschsprung disease (HSCR), @DISEASE$, hypospadias, genitourinary anomalies, @PHENOTYPICFEATURE$, and short stature are common.	false
+34cbf529012e4e1896db1cf255493c42eb250eb6	Congenital anomalies, including @DISEASE$ (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, @PHENOTYPICFEATURE$, and short stature are common.	false
+ca85a66dc880b8af458496e28a1fd3e58a9608e0	@DISEASE$, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, @PHENOTYPICFEATURE$, and short stature are common.	false
+dcea2f69adc94df5f214678ffbc902153d52d647	In 1981, Goldberg and Shprintzen described siblings with short-segment @DISEASE$, cleft palate, microcephaly, mild mental retardation, @PHENOTYPICFEATURE$ and distinctive facial appearance.	has_symptom
+ddefc3f758a0038db569edf23170dec6a81952d2	In 1981, Goldberg and Shprintzen described siblings with short-@DISEASE$ Hirschsprung disease, cleft palate, @PHENOTYPICFEATURE$, mild mental retardation, short stature and distinctive facial appearance.	false
+74cc0511dde360709bcf24be4db157f2c5e4b330	In 1981, Goldberg and Shprintzen described siblings with short-@DISEASE$ Hirschsprung disease, @PHENOTYPICFEATURE$, microcephaly, mild mental retardation, short stature and distinctive facial appearance.	false
+a8b261fff9b7789585ec32b7942a58e8bd7f4bef	In 1981, Goldberg and Shprintzen described siblings with short-segment Hirschsprung disease, cleft palate, @PHENOTYPICFEATURE$, mild mental retardation, @DISEASE$ and distinctive facial appearance.	false
+6966ccbf3bdd6df5f0cc3079514f4adebb096714	In 1981, Goldberg and Shprintzen described siblings with short-segment @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, mild mental retardation, short stature and distinctive facial appearance.	false
+05783c2f9192946c7aec1b80ca801698be341a70	In 1981, Goldberg and Shprintzen described siblings with short-segment Hirschsprung disease, @PHENOTYPICFEATURE$, microcephaly, mild mental retardation, @DISEASE$ and distinctive facial appearance.	false
+2bc72595bd931230a87e9512da6f41955778a0bc	In 1981, Goldberg and Shprintzen described siblings with short-segment @DISEASE$, cleft palate, @PHENOTYPICFEATURE$, mild mental retardation, short stature and distinctive facial appearance.	false
+5ace4098e9aec96020aa129ac9a7efe470fbf53b	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, @PHENOTYPICFEATURE$, hypotonia, and @DISEASE$.	has_symptom
+24343f18bc09a0cc9316941afecb6d998e9806ae	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including @PHENOTYPICFEATURE$, seizures, congenital heart defects, microcephaly, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+2ef54bfec1b1c3f31a30c052744036d3ee5e3808	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+89f6deffea4524fc6cb5c051eb526f64a6da2841	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, @PHENOTYPICFEATURE$, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+2de6fd8c1e224a339d1c5d3b140ff25625ce2fce	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, @PHENOTYPICFEATURE$, short stature, hypotonia, and @DISEASE$.	false
+0e454e4e313f954b7f156462ca5db985c6e737fe	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+9a092128b3ea88a4b02daae617833902a2bf3763	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+4e8480f5107132d36ebffd2dfae0aeba533626bb	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart defects, microcephaly, @DISEASE$, hypotonia, and Hirschsprung disease.	false
+f151321825f92c7651f00912fb90e087c066d49b	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including @PHENOTYPICFEATURE$, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+fa98902e495690acfd67418592c238867d86bbf4	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	has_symptom
+1d658147757ba2181d0ee29e3bb546b5f4e8fbe9	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+34cd5b4c9e7b85424f986107f1206f3dd21ebeb5	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$.	false
+feabc004cd1107e8a16238fddefa37b30bc4d98e	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+4d8c03a1746755f3ac7dda095f4a5ab12dc8e1ab	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and microcephaly.	false
+951fd713bf662ea4df04453e11fde46722d9d952	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+ebf77c518f47708dc42c884e654b9d97642f8208	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+60663483fff010db0697f0289a8d028f677679c6	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+1a1178b8b0e42fdef147073997ab855177c091b5	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+2da5b70df189e206a2136a1eaebe1012e0653b62	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+765883cf947d5f436e5f0d6bf64123c43c92d4d8	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	false
+da1c51934f81a4f58306defc522b787592cc95f0	@DISEASE$ was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been @PHENOTYPICFEATURE$.	has_symptom
+f2912037bae8aef030fedd24d1fb8dfc92a6b102	We reviewed the literature for aspects of associated cystic malformations in addition to @PHENOTYPICFEATURE$ and report on another patient with @DISEASE$.	has_symptom
+f9f0fc2513b740fc842e7ecff2b0e5cae45f660d	Acrocallosal syndrome (@DISEASE$), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and @PHENOTYPICFEATURE$, is a rare genetic disorder that is apparent at birth.	has_symptom
+9240d4669e7c130c1674c71e721a558a26e7dff6	Aicardi syndrome (@DISEASE$) is a rare neurodevelopmental disorder that was classically characterized by the triad of @PHENOTYPICFEATURE$, infantile spasms, and chorioretinal lacunae.	has_symptom
+845408be3ed6b7ba7a53abf05829992827b30b98	Here we report a child with @PHENOTYPICFEATURE$ and severe retardation, both cardinal features of @DISEASE$ and rare in GCPS, who has a mutation in GLI3.	has_symptom
+9ce499ba1e8d056ed8cca647f5edd6a60e0995be	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+1fad57cfcf8e2479b82710d25a1853c05a3a6f89	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+6a868f644d792a15bfc095ad317801e360d19ad3	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+f1064e439aa6e6d5bdebfb121c5f9d06fcf29f1d	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+5a91c3adace4fccecdacdff7454e0d48a645e3e2	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+23a0c0b7062902375893edcaf2dd4e0df35c4355	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @DISEASE$ (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+cf978a81529c83ed5f109e2141b062b7181dd35a	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @DISEASE$ (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+850c99cf202e62dcadc46c17edb7353199759e23	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+8eb56da15643db7a3ff78119606722b6049c47c1	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+980f37f61153fffdad4be35455ebd18dfdd896e0	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @DISEASE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+a328bf4fed5d1d6357594ebb88d00bb5a29f40de	Acrocallosal syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphism, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay.	has_symptom
+72604d3bd0701a4d80edc4946784a7d447a317d2	Acrocallosal syndrome (ACLS) is a rare autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay.	false
+021437849854360ff4190b1d5e9d833f559f96eb	Acrocallosal syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay.	false
+5c968bbd5da51401f61e5958b9968fa2c8f2cd07	@DISEASE$ (ACLS) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay.	false
+48a4919826adb8f2d6267b06ea62277abeb61eea	Acrocallosal syndrome (@DISEASE$) is an autosomal recessive condition, characterized by @PHENOTYPICFEATURE$, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation.	has_symptom
+0c1948bedae2d11bec81d64b1dbca3d9a38a64cb	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/@PHENOTYPICFEATURE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	has_symptom
+40ff8029d922da16b0b1f92283860813bc78f46d	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	false
+7f778d4990fa7d32abc8a94a6eb3fb40361b9127	The presentation of the typical characteristics of the @DISEASE$ (ACLS) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+f157389c39e30a25db76687c35ab99025f9783ea	The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/@DISEASE$, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+cd2416ab012c49a453615a2ad46d8086aa40a083	The presentation of the typical characteristics of the acrocallosal syndrome (ACLS) are hypoplasia/@DISEASE$, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	false
+1766cd1552eaafaff2fd0b039ea2a5299f7de08c	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/agenesis of corpus callosum, moderate to @PHENOTYPICFEATURE$, characteristic craniofacial abnormalities, distinctive digital malformation, and growth retardation in a neonate.	false
+46c56c676e103f3ea1ce20efe48ddd9461f5239b	The presentation of the typical characteristics of the acrocallosal syndrome (@DISEASE$) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformation, and @PHENOTYPICFEATURE$ in a neonate.	false
+c6689658a67b8a0d0cd46fcbc58bd08b99036bab	Acrocallosal syndrome (@DISEASE$) is a rare recessive disorder characterised by @PHENOTYPICFEATURE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation.	has_symptom
+ab693625e23ee6d20ac046f67b767910cc8d5c44	Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by @DISEASE$ or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+7d5930c9b0fed4b318ac07f16ad8f27b30c12ec8	Acrocallosal syndrome (@DISEASE$) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+29e28ca4da81f432eb5380742a8883566053c644	@DISEASE$ (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+96f6e2736baed609bf87a63008510274e4043002	The differential diagnosis for this disorder should include other disorders of excessive daytime sleepiness with a proclivity toward onset in adolescence, such as delayed sleep phase syndrome, @PHENOTYPICFEATURE$, and insufficient sleep time; substance use; and less commonly neurologic disorders such as Klein Levin syndrome, @DISEASE$, and others.	has_symptom
+d2b8a88d8f390ddb350d6b4beb792a20484ebb01	An important complication of obesity is @PHENOTYPICFEATURE$, often observed in @DISEASE$.	has_symptom
+0d844bcccd2e7285969972ef9a2808b4e14ab72d	An important complication of @PHENOTYPICFEATURE$ is @DISEASE$, often observed in Prader- Willi syndrome.	false
+87ab7f6acd10e77a0f0c2362596e940818fced3e	An important complication of @PHENOTYPICFEATURE$ is obstructive sleep apnea, often observed in @DISEASE$.	false
+9bf3f011e2c29db4d8877ade6addcdad3a6aecef	This patient also had additional clinical features including @PHENOTYPICFEATURE$, pendular nystagmus, cryptorchidism, dermal sinus, and peripheral joint laxity, which had not been reported previously in association with @DISEASE$.	has_symptom
+de1acb23492d6901ebc6ea537f5320d61e97c8a8	This article describes a rare presentation of systemic @DISEASE$ called Heerfordt's syndrome with the triad of parotitis, uveitis, @PHENOTYPICFEATURE$, and optional paralysis of facial nerve.	has_symptom
+e2c9bdf4c37e66dbc62dec749f133263504a4d4e	This article describes a rare presentation of systemic sarcoidosis called Heerfordt's syndrome with the triad of parotitis, @DISEASE$, fever, and optional @PHENOTYPICFEATURE$ of facial nerve.	false
+4266ebc10731d14da48e0ee1fecdf0abf9ddc638	This article describes a rare presentation of systemic sarcoidosis called Heerfordt's syndrome with the triad of parotitis, uveitis, @DISEASE$, and optional @PHENOTYPICFEATURE$ of facial nerve.	false
+54ef55bcb876db73dc94f7371f477a605ccca591	This article describes a rare presentation of systemic @DISEASE$ called Heerfordt's syndrome with the triad of parotitis, uveitis, fever, and optional @PHENOTYPICFEATURE$ of facial nerve.	false
+24b6da7c32d46a5250d2734065d3fbe2b277cc84	Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+cafd20c000b4113bb9ecd0aa51991e3a66a890c3	Patients with suspected high risk for @DISEASE$ should be cared for in a multidisciplinary centre for hereditary @PHENOTYPICFEATURE$ diseases.	has_symptom
+34808d204679be76f92c572f0f09dc2a0c69345e	@DISEASE$ (HDGC) families carry CDH1 heterozygous germline mutations; their @PHENOTYPICFEATURE$ acquire complete CDH1 inactivation through "2nd-hit" mechanisms.	has_symptom
+d5e9e6757dc1417c9307c6a1e174b035272af8a0	@DISEASE$ (HDGC) is a disease mediated by down-regulation of the @PHENOTYPICFEATURE$ suppressor E-cadherin (CDH1).	has_symptom
+7454b34b7ad4b3c64eb36a0054e56c65d2dc25da	These same features are observed in more advanced stages of @DISEASE$ progression, suggesting that an epithelial-mesenchymal transition is required for @PHENOTYPICFEATURE$ invasion beyond the muscularis mucosae.	has_symptom
+a18e0333d088d6d759dd59a7cb27b4b02f66d0b7	Strategies to reduce the @PHENOTYPICFEATURE$ risk in the @DISEASE$ syndrome are limited, but it is necessary to recognize them in order to treat these patients accordingly to the available evidence.	has_symptom
+7391a10d5a8914907c4752241de7a61e08dcfb93	This involves a comparison between a primary @PHENOTYPICFEATURE$ from a @DISEASE$ syndrome proband and its recurrence as an ovarian metastasis.	has_symptom
+ac673cb1217928fecb7f62cdc60b37f743546f64	PTEN Hamartoma @PHENOTYPICFEATURE$ Syndrome, Li Fraumeni Syndrome and @DISEASE$.	has_symptom
+cb2216682ad73cd165cce71e16c1a2df9db8aafd	PTEN @PHENOTYPICFEATURE$ Tumour @DISEASE$, Li Fraumeni Syndrome and hereditary diffuse gastric cancer.	false
+6bda914565ba1b761b54ef92191a70883eb9cd3f	PTEN @PHENOTYPICFEATURE$ @DISEASE$ Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer.	false
+6af20dba3d6f53fe12272206f5e72ed84d4a6cb5	PTEN @PHENOTYPICFEATURE$ Tumour Syndrome, Li Fraumeni Syndrome and @DISEASE$.	false
+c1a9f8ac3dff6581753cc0537a6d41b2b2d461aa	Independent of CDH1 alterations, most @DISEASE$ @PHENOTYPICFEATURE$ display mislocalized or absent E-cadherin immunoexpression, therefore undetected defects at the CDH1 locus may still be involved.	has_symptom
+1de9b9f1956acc6a4335657e85342c5a1d0d8afd	However, CDH1 germ-line mutations predispose to the cancer susceptibility syndrome @DISEASE$ (HDGC), suggesting a role for E-cadherin in @PHENOTYPICFEATURE$ initiation.	has_symptom
+d1cbcf749a1089e253c0238c5d66ccd583df5bf6	[@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+45c3f3450a5a6dd96ca8787cf7d52877aeae38c4	The new associations found were: spastic myoclonus, @PHENOTYPICFEATURE$ with pancreatic malabsorption, @DISEASE$, cyanotic heart disease and choledocholithiasis with cholangitis.	has_symptom
+e1684fdd6df1a77a000519b5b1ff093052f94e47	The autosomal recessive form of @PHENOTYPICFEATURE$-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with @DISEASE$.	has_symptom
+0e3dd71d2a832a5f9a16162c3b027d41b8aadbe1	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @PHENOTYPICFEATURE$, hydrocephalus, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	has_symptom
+63ddd157cc991156378069a1a34d22eb640d5788	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, seizures and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+acd12b7ac2d2882aebbe67e7e42d3f0f794ec345	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, @PHENOTYPICFEATURE$ and mental retardation), icterus, hepatosplenomegaly, rash, @DISEASE$, erythroblastosis, thrombopenia.	false
+cbd36154083a01212da08f3dc5e1dcbbc741db9b	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @DISEASE$, hydrocephalus, encephalomyelitis, seizures and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+059203f382081a7ea5700ba4dae0eda339265b5c	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, @PHENOTYPICFEATURE$, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, @DISEASE$, erythroblastosis, thrombopenia.	false
+7f082fc583db189b7641a590351d812dcbb8a27a	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, @PHENOTYPICFEATURE$, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+41211e8c8ebd4ebbddabce689b61b35726351418	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @DISEASE$, @PHENOTYPICFEATURE$, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+8ee2105fc5637649e0ce13c305d2b77091480d86	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, seizures and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, @DISEASE$, erythroblastosis, thrombopenia.	false
+ac26151b9e6076445d36b2d165bae09a4076750c	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, @PHENOTYPICFEATURE$ and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+0a4300be1f0c9c54a1cd5e2bae870431dd426758	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @DISEASE$, hydrocephalus, encephalomyelitis, @PHENOTYPICFEATURE$ and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+5cbe86142c1d27a4e64835253fdb39b7ec5d071d	The @DISEASE$ is characterized by bird-like face, micropthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	has_symptom
+7f35b303a8f0ef4873a7637df14500762f7825e7	The @DISEASE$ is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+7dd4ef379651c165d2169533c2d17bcde93c83ec	The @DISEASE$ is characterized by bird-like face, micropthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+34dff582fd7c27de7bfe8b52f1f0bd216d0e2fce	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, @DISEASE$, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+df815d8e4404444751b0c663bb4af26f30263d8d	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, @DISEASE$, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+0975f1f73b3f5452cadd25dbde52ba27d7a6fee9	Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and @PHENOTYPICFEATURE$, resembling @DISEASE$ in two sibs.	has_symptom
+2bef3f80c91e75bbcfab4a9c66e5bf7464b6ef33	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, micrognathia and proportionate short stature.	has_symptom
+75d5cac09694621d7e7c71a65e91ed9a78cbcb84	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @DISEASE$, @PHENOTYPICFEATURE$ and proportionate short stature.	false
+864d6e1d49ef275048db94d6daaaeaf30f208431	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, cataracts, micrognathia and @PHENOTYPICFEATURE$.	false
+902a5491ad34160ff0f23ef6334c0fe01ada116c	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, micrognathia and @PHENOTYPICFEATURE$.	false
+839b4c6f1954300280df6b83dbbcb163a78a83f9	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, cataracts, @PHENOTYPICFEATURE$ and proportionate short stature.	false
+7bdb69eb9d513ef1a9015728ef4f976ca0dfdf5b	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, @PHENOTYPICFEATURE$ and proportionate short stature.	false
+478644a703ef432a96a1295f1ebf309a661e2eea	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @DISEASE$, micrognathia and @PHENOTYPICFEATURE$.	false
+70ed59e0f3b3db2d1552789e468a5986b6f547f1	Reported is an atypical, severe case of @DISEASE$ combined with progeria, bilateral microphthalmus, @PHENOTYPICFEATURE$, and normal chromosome count.	has_symptom
+65324e39d7837b285968202a1e435825bebb6d3f	Reported is an atypical, severe case of Hallermann-Streiff syndrome combined with progeria, bilateral @PHENOTYPICFEATURE$, @DISEASE$, and normal chromosome count.	false
+0abc398b437d40d0be1f553d8d06f90e8886e4d7	Reported is an atypical, severe case of @DISEASE$ combined with progeria, bilateral @PHENOTYPICFEATURE$, cataracts, and normal chromosome count.	false
+3569f4ad534f885daa51968709300843217240f9	@DISEASE$ with bilateral microphthalmia, pupillary membranes and @PHENOTYPICFEATURE$ absorption.	has_symptom
+4fe5ee26a3ea3723e35f2ebc0fb5ab950e08af6a	Hallermann-Streiff syndrome with bilateral @PHENOTYPICFEATURE$, pupillary membranes and @DISEASE$ absorption.	false
+f239f2430cecb921ab4b4831d566e8081bc75873	@DISEASE$ with bilateral @PHENOTYPICFEATURE$, pupillary membranes and cataract absorption.	false
+fb8a6aa283e4d4aa1ec7c95eb40365545217515b	@DISEASE$ is a rare congenital anomaly characterized by a peculiar bird facies, mandibular and maxillary hypoplasia, dyscephaly, @PHENOTYPICFEATURE$, microphtalmia, hypotrichosis, skin atrophy, and short stature.	has_symptom
+949fda4818a4dd01463c9768463ef62dfd6776bc	Hallerman-Streiff syndrome is a rare congenital anomaly characterized by a peculiar bird facies, mandibular and maxillary hypoplasia, dyscephaly, cataracts, microphtalmia, hypotrichosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4525987289f291e3c7616d287f487e0269b51454	Hallerman-Streiff syndrome is a rare @DISEASE$ characterized by a peculiar bird facies, mandibular and maxillary hypoplasia, dyscephaly, cataracts, microphtalmia, hypotrichosis, skin atrophy, and @PHENOTYPICFEATURE$.	false
+33e79bd218913e36913e320ddc6ff3691958a9b2	@DISEASE$ is a rare congenital anomaly characterized by a peculiar bird facies, mandibular and maxillary hypoplasia, dyscephaly, cataracts, microphtalmia, hypotrichosis, skin atrophy, and @PHENOTYPICFEATURE$.	false
+492539dc98956d055ab8544c752fe72fe2bbc7f9	Hallerman-Streiff syndrome is a rare congenital anomaly characterized by a peculiar bird facies, mandibular and maxillary hypoplasia, dyscephaly, @DISEASE$, microphtalmia, hypotrichosis, skin atrophy, and @PHENOTYPICFEATURE$.	false
+334262eb86dd8a9e3f54071119a0293cc42125b4	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	has_symptom
+2f98e33841fd9dc70a507ea9cb2c943599ac31ec	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+91700f8c65dabb979c0abdaebfc51c473d8a59a9	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, @DISEASE$, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+a05affac98fb4a7641d1f9c7d7b9edcbd561cd0b	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, @DISEASE$, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+22a79e2882af525655e095d7bf97200b643682cd	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+e8741f8a2a1343e43a2138e9bfc09597e6dc6a9b	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, @DISEASE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+c9e450aed9282cb41798bba29207f6c2377d302b	The @DISEASE$ is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+4d1b0fcaa971349e67da97be2da2f381cf4f80cf	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	has_symptom
+19edc53b8b0152ed91b77c62d4749b82e0c0ecf3	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+1e4e608ea4f836e98d0498d47453eae63d8e5722	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+360295ae3f3fc26804b2451d504f73918ad52244	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, @DISEASE$, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+0430632c1ceb29b933b198068ed882bba23efdfc	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, @DISEASE$, beaked nose, micrognathia, and proportionate short stature.	false
+9dcd56cecac336fa2713a789de7ffdcfb256178f	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, @DISEASE$, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+d614b36a38de7c81ad7a69bc5f5fdbfab9963c16	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+50b1eecf849fbcd7c58aefcd188c53713da8173a	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+d0fc785be043f7d5a195a462ea42b08fefc8af06	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+28cc52151101caf1d2aa6b39fdc19fab0b52cd09	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+13c1380371f5df68f02b06c48c8d019488e4d8ea	Exudative retinal detachment following @PHENOTYPICFEATURE$ surgery in @DISEASE$.	has_symptom
+9389ab5a77428043945f66f9f79b163e950d9493	Spontaneous @PHENOTYPICFEATURE$ absorption in @DISEASE$.	has_symptom
+5a6fd50ccd596559fd8f1b5fa4fe525499a6f360	Orofacially, @DISEASE$ patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, @PHENOTYPICFEATURE$, high arched palate, dental crowding, and root anomalies.	has_symptom
+893824d7f28c8129d4b52defca5d3e00394b9692	Orofacially, @DISEASE$ patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, @PHENOTYPICFEATURE$, malar hypoplasia, high arched palate, dental crowding, and root anomalies.	false
+602c6596d91492f649c6935cee8b704eda2f9eea	Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, @PHENOTYPICFEATURE$, malar hypoplasia, high arched @DISEASE$, dental crowding, and root anomalies.	false
+be23c7ad85032191181cdc7e25ed956eb348ab44	Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, @PHENOTYPICFEATURE$, @DISEASE$, high arched palate, dental crowding, and root anomalies.	false
+27eb31524ca161e9732cf8c4ce571feb432460de	We examined the prevalence of known facial features of @DISEASE$ (MFS)-dolicocephaly, @PHENOTYPICFEATURE$, enophthalmos, retrognathia, and down-slanting palpebral fissures-and the diagnostic utility (sensitivity, specificity, accuracy, predictive values, and likelihood ratios) of using them for screening and diagnosis.	has_symptom
+466b8d2aee60c257447c63e809328a93b846d904	We examined the prevalence of known facial features of Marfan syndrome (@DISEASE$)-dolicocephaly, @PHENOTYPICFEATURE$, enophthalmos, retrognathia, and down-slanting palpebral fissures-and the diagnostic utility (sensitivity, specificity, accuracy, predictive values, and likelihood ratios) of using them for screening and diagnosis.	has_symptom
+529e2c046d606faeacbb71d685907ef6913cebb4	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	has_symptom
+c3dcee3e2654306fb1a8fbb83329977f59b1cb38	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+6a70bfce31655ffdf84618397514126e84cb0b6e	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+13fff77fc30c7d82fc8695fe13d7d8d7c5a3e1bf	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @DISEASE$, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+98f7eff638241837e7c1bf497970a8c3cc2c7e83	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+004a9b3d4ab6b32b233f5c6f6017628719db7d44	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @DISEASE$, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+6a7a5bed37d006dfb51f7d76bc6344568b4a67e2	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+1e829ff6813e1675115b2302b89817c6fd959fa3	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+1796ff5167870fb2e87759c02db9c78e9eacf551	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+9f78ca67ee4893183db5d959b875bb2507390504	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+0194be08664008717f5b47b507d509c18346af1b	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+b0e5252705fc961aafb3679a5eb930adada581a5	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+8b994facf6dea4501391553d0685006735e755bb	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset @DISEASE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+d1c30220396025864b65acc91cb2a02e964b7576	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+4ab9453f5de1a34d0899858ddbf1e4af26c75f19	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @DISEASE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+3aa3e2e795674a2d733127513df29dc29d7aa426	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+b2f07860e7c02880cac2912f6eef5b90cef39e4f	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+1638880fb3835a9258bbf80b953af74fbc110f49	We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (optic atrophy, chorea and @PHENOTYPICFEATURE$; type III 3MGA).	has_symptom
+410ec5d089c5809b0a29ed15ffd6b2f1e73bdf79	We have screened 13 patients with @PHENOTYPICFEATURE$ and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (optic atrophy, chorea and spasticity; type III 3MGA).	false
+a2d84185f2226f2b3a79fe12b25e9d3deb1d316f	We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (@PHENOTYPICFEATURE$, chorea and @DISEASE$; type III 3MGA).	false
+871c6137452242cf451c69c79b5b9e5042e2483f	We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (@PHENOTYPICFEATURE$, chorea and spasticity; type III 3MGA).	false
+d5f5cc954d026e0ecb7823f6e44692fbd9241319	We have screened 13 patients with @PHENOTYPICFEATURE$ and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (optic atrophy, chorea and @DISEASE$; type III 3MGA).	false
+e1bdc3a9cfa7d464b11fad4b3e88a936271c8066	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and @PHENOTYPICFEATURE$.	has_symptom
+c5a8d01435d53d5d2d14918300e9d8f4bd103c2a	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of @PHENOTYPICFEATURE$ and spasticity.	false
+07cf4116a54548a2c2758e8f317c3ebdfa58cf34	Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @PHENOTYPICFEATURE$ and choreoathetosis with later onset of ataxia and @DISEASE$.	false
+80d975bdf633edc5a7776477680fc4987deb4275	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @PHENOTYPICFEATURE$ and choreoathetosis with later onset of ataxia and spasticity.	false
+3df122c074f850104e9b42f92b20f40852e8b034	Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+402234a5f66632b4cb2686051cca93530bb7f4cf	@DISEASE$ (PG) is a rare inflammatory skin condition, characterized by progressive and recurrent @PHENOTYPICFEATURE$, often representing a pathergy response.	has_symptom
+bdc046cc415d86b19bae52fe87b867d07d379b95	They present as erythema nodosum-like lesion, papulopustular eruption, erythema multiforme-like lesion, thrombophlebitis, @PHENOTYPICFEATURE$, Sweet's syndrome-like lesion, bullous necrotizing vasculitis, and @DISEASE$.	has_symptom
+9eff35f522dd49ff74041925cdedca7aeaa1aaa9	@DISEASE$ is a @PHENOTYPICFEATURE$ necrosis, due to dermal neutrophilic infiltration, through a non-infectious exacerbation of cell -mediated immunity.	has_symptom
+c5adbe7a1f9cc716afa9270c389b646ec0c11e00	@DISEASE$ (PG) is a rare, noninfectious form of @PHENOTYPICFEATURE$, typically accompanied by neutrophilic infiltration.	has_symptom
+5c9f9f4258585893fb0025e117ba3d1f1fa40008	Branchio-oculo-facial syndrome (@DISEASE$) is a rare autosomal-dominant @PHENOTYPICFEATURE$-craniofacial disorder with variable expressivity.	has_symptom
+2a48b465cba0f3c3abd620cd65cb2c416af30ae2	Xpa (-/-) mice provide a useful model for investigating the aging and internal @PHENOTYPICFEATURE$ formation in @DISEASE$ patients.	has_symptom
+978c4c29accaf91db665267e44adbbe3d6e363fa	However, in @DISEASE$-deficient mice this dependency on p53 alterations appeared to be different as is the @PHENOTYPICFEATURE$ type induced by UVB.	has_symptom
+a38066734125f998379bc44c0f7bbab49fa3bc82	Induction of DNA adducts and mutations in spleen, liver and lung of @DISEASE$-deficient/lacZ transgenic mice after oral treatment with benzo[a]pyrene: correlation with @PHENOTYPICFEATURE$ development.	has_symptom
+d27a4952ff87ee8c1ff90aea72dc2adbf5dfc429	Our results show for the first time that @DISEASE$-deficient mice also displayed an increased sensitivity to developing @PHENOTYPICFEATURE$ other than tumors of the skin.	has_symptom
+1ad1094ae9c20747e5a09abca662c611cff5a47e	Furthermore, by a discovery-based global approach, comparing cDNA microarray expression profiles of two germ cell @PHENOTYPICFEATURE$ cell lines before and after treatment with the demethylating agent 5-aza-2'-deoxycytidine, a gene list of potentially epigenetic targets was identified, from which CGGBP1, CGRRF1, SMARCC2, SORBS1, and @DISEASE$ were analysed further.	has_symptom
+0868937fa7272d750cb4be6aac7624c4cc45f005	and increased creatine kinase levels, ptosis/ophthalmoparesis, @DISEASE$, cardiomyopathy, @PHENOTYPICFEATURE$, respiratory impairment, diabetes, muscle pain, tremor, migraine (5%-14.9%).	has_symptom
+b8a8954352c531cd4bd26907c0d9e76b3a55a4d6	and increased creatine kinase levels, @PHENOTYPICFEATURE$/ophthalmoparesis, optic atrophy, @DISEASE$, muscle wasting, respiratory impairment, diabetes, muscle pain, tremor, migraine (5%-14.9%).	false
+82a1b9f82b317180e90e6068bec77c7de4050923	and increased creatine kinase levels, @PHENOTYPICFEATURE$/ophthalmoparesis, @DISEASE$, cardiomyopathy, muscle wasting, respiratory impairment, diabetes, muscle pain, tremor, migraine (5%-14.9%).	false
+8abb8851be01ef04c5d82d6f095f9dadb5ed45ed	and increased creatine kinase levels, @PHENOTYPICFEATURE$/ophthalmoparesis, optic atrophy, cardiomyopathy, @DISEASE$, respiratory impairment, diabetes, muscle pain, tremor, migraine (5%-14.9%).	false
+005f6aec797b65329da3a9b931a79a2a789e2950	and increased creatine kinase levels, @PHENOTYPICFEATURE$/ophthalmoparesis, optic atrophy, cardiomyopathy, muscle wasting, respiratory impairment, @DISEASE$, muscle pain, tremor, migraine (5%-14.9%).	false
+0458082802f073dc50ff097d7dc6b46ae9ad6592	Bilateral @DISEASE$ in Charcot-Marie's @PHENOTYPICFEATURE$.	has_symptom
+9f3344cd77f5402ab4d43078931728a49406dbf5	Neurological examinations at age 60 revealed limb @PHENOTYPICFEATURE$ and weakness with pyramidal tract signs, distal-dominant sensory disturbance, @DISEASE$, and autonomic dysfunction.	has_symptom
+7f19ef98f60303693da6c15b1f0c48496902c202	@DISEASE$ (RPF) is a rare fibroinflammatory disease that leads to hydronephrosis and @PHENOTYPICFEATURE$.	has_symptom
+e1f07d12b1bd7b55a3862b8ecc34c363d0010de5	Ureteral obstruction causing @PHENOTYPICFEATURE$ is the most common complication associated with @DISEASE$ (RPF).	has_symptom
+6cef3518b68f5092918f7f3a170bc517f8fe9b29	@DISEASE$ (RPF) is a chronic inflammatory disorder causing obstructive nephropathy and @PHENOTYPICFEATURE$.	has_symptom
+94680aef383e963bed9308a082dbfacada4789aa	@DISEASE$ is a rare disease and a delay in diagnosis may cause @PHENOTYPICFEATURE$.	has_symptom
+1569c6fb95972efaf5043dd30c0d1216ffc5d14d	@DISEASE$ was observed in a-83-year-old man during examinations for postrenal @PHENOTYPICFEATURE$.	has_symptom
+5097ca8832a46fd99afd94f813b9760a0dfaf321	@DISEASE$ is a rare disease but is important surgically because it can produce ureteral obstruction and @PHENOTYPICFEATURE$.	has_symptom
+05b35cc4da1ce29c8905d3b7664cab5c6e0a21de	@DISEASE$ should be considered in patients with an elevated ESR, hypertension, @PHENOTYPICFEATURE$, and hydronephrosis.	has_symptom
+fecb78c406d861590eded419c4936f6709e57e29	We report a patient with multifocal fibrosclerosis presenting as sialadenitis, hepatic fibrosis, and @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+cb901cf8b98e8a46ccf3c236d0175ed7298f523b	@DISEASE$ is a disease which causes @PHENOTYPICFEATURE$ by obstruction of the ureters.	has_symptom
+7247d5633e01a79c98bb224fe3cbba626d5488a2	@DISEASE$ (IRPF) is an inflammatory fibrosclerosing condition, leading to @PHENOTYPICFEATURE$ by obstruction of the ureters.	has_symptom
+de13db70b7b995e8369292b99137d39ecdd75743	In this case, liver dysfunction was attributed to @DISEASE$, and @PHENOTYPICFEATURE$ to Sanfilippo syndrome.	has_symptom
+21faf44ef2d2cedd6f0ca88a5384e3898d327df6	A 5-year-old boy visited a hospital because of macrocephalus, @PHENOTYPICFEATURE$ and hepatic dysfunction, and was suspected to have @DISEASE$ since his father had this disease.	has_symptom
+56cfa5e3860629632a64d8d0a973a18461b89308	Multiple genomic aberrations in a patient with @PHENOTYPICFEATURE$ and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for @DISEASE$.	has_symptom
+96a6f479b3a5ee55e863205fa86c7052242316ac	Eye movement abnormalities in familial @PHENOTYPICFEATURE$ syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and @DISEASE$.	has_symptom
+425b49674543cbbe3ccfe7c61961f9765dc8b1c0	@PHENOTYPICFEATURE$ in familial @DISEASE$ syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+1157bb2419a2d4429309fe29ad92b41f22a82e0a	@PHENOTYPICFEATURE$ in familial mental retardation @DISEASE$ should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+4cca55726b75856b933dff505a1353d28b3f7c37	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including @DISEASE$, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+4fcf591b7f8289e53a8c63181c6e3a2ced6422ea	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and @DISEASE$.	false
+fd1b8733e3a488ace662811d6ebda2f1af36e413	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, @DISEASE$ and Wilson's disease.	false
+46b7972797fcb3989c4203f4453738526b9c2b26	Metabolic studies of cases of @PHENOTYPICFEATURE$ in AIIMS, Delhi and KEM Hospital, Mumbai, demonstrated that common disorders were those of mucopolysaccharides, lysosomes, @DISEASE$, glycogen storage disease and galactosemia.	has_symptom
+3fc367af9599cca56c0b0d9d332aa8cb9ed620a3	@DISEASE$ (PPCa) is a relatively uncommonly diagnosed @PHENOTYPICFEATURE$.	has_symptom
+15181c39f91ed6a14a1328ef4939decefb27047f	Ovarian/primary peritoneal serous carcinoma (OC/@DISEASE$) and diffuse peritoneal malignant mesothelioma (DMPM) are highly aggressive @PHENOTYPICFEATURE$ that are closely related morphologically and histogenetically.	has_symptom
+20ad33200bf557e16c22fd5bebbfef954ce6e6f7	Ovarian/@DISEASE$ (OC/PPC) and diffuse peritoneal malignant mesothelioma (DMPM) are highly aggressive @PHENOTYPICFEATURE$ that are closely related morphologically and histogenetically.	has_symptom
+2e7ecdd8ac52cb290a58a8f714bef0c7cc447dbd	@DISEASE$ is an uncommon disease, characterized by peritoneal carcinomatosis without other identifiable primary @PHENOTYPICFEATURE$.	has_symptom
+0f5e91fe5c5edc7ce919035f307455fc4f9c2065	The major change in the eighth edition of TNM classification of gynaecological malignant @PHENOTYPICFEATURE$ is integrated staging for ovarian, fallopian tube and primary peritoneal carcinoma, whereas the seventh edition distinguished 'ovary and @DISEASE$' and 'Fallopian tube carcinoma'.	has_symptom
+0ab1960c77cbf6ebcca6b1178956055724d5b2eb	The major change in the eighth edition of TNM classification of gynaecological malignant @PHENOTYPICFEATURE$ is integrated staging for ovarian, fallopian tube and @DISEASE$, whereas the seventh edition distinguished 'ovary and primary peritoneal carcinoma' and 'Fallopian tube carcinoma'.	has_symptom
+478f17ed3c142e60667d443e0f969cc85dcf3ec3	Case Report: Borderline @PHENOTYPICFEATURE$ and @DISEASE$ - a rare synchronism.	has_symptom
+3ce3c2ab80768aa6ca91e7c0d3073a57d3105a2a	Cases of ovarian borderline serous @PHENOTYPICFEATURE$, @DISEASE$ (PPSC) and uterine endometrioid carcinoma were also studied.	has_symptom
+764c78253039d1519c23b2909cc782eb49654f02	@DISEASE$ (PPC) is a rare @PHENOTYPICFEATURE$ that is histologically and immunohistochemically indistinguishable from epithelial ovarian carcinoma.	has_symptom
+4251ad13e98baa898e0727fab73ca44ad9cf82e4	Primary peritoneal carcinoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ that is histologically and immunohistochemically indistinguishable from epithelial ovarian carcinoma.	has_symptom
+83d7747625b924e324335dea696b091876c5aaee	@DISEASE$ is a rare @PHENOTYPICFEATURE$ histologically identical to papillary serous ovarian carcinoma.	has_symptom
+8e87ecd0a716b70b81dbbc34e631109e4057b2bd	Therefore, HGSC may present itself not only as a tuboovarian @PHENOTYPICFEATURE$ but also as a @DISEASE$.	has_symptom
+c59df71b4103efbb69165495be62616c4e9a7f75	Vascular endothelial growth factor (VEGF) seems to be a promoter of @PHENOTYPICFEATURE$ progression for epithelial ovarian cancer (EOC) and primary peritoneal cancer (@DISEASE$).	has_symptom
+b636c8f36980ce34647e8b9f4008ec5d007e41a5	Vascular endothelial growth factor (VEGF) seems to be a promoter of @PHENOTYPICFEATURE$ progression for epithelial ovarian cancer (EOC) and @DISEASE$ (PPC).	has_symptom
+205728f5385d888f047697c3e0bc9d68e0ceccd9	A 54-year-old man with a history of nonalcoholic steatohepatitis and @DISEASE$ presented 2 months after an orthotopic liver transplant with fever and @PHENOTYPICFEATURE$.	has_symptom
+c3f747c415dc6befeaa684bf9d4336226c22d73d	A 54-year-old man with a history of nonalcoholic steatohepatitis and @DISEASE$ presented 2 months after an orthotopic liver transplant with @PHENOTYPICFEATURE$ and abdominal pain.	false
+25a30d61f75ca3a05ae61b619ea0f5ebe2d1b7b2	A 54-year-old man with a history of nonalcoholic steatohepatitis and hepatocellular carcinoma presented 2 months after an orthotopic liver transplant with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4a96f9df1b4c4cc1ab90628e50d40e2111d97c8a	We experienced recently massive bleeding hemobilia in patient with @DISEASE$ who was a 73-year old man and showed sudden @PHENOTYPICFEATURE$, jaundice and hematochezia.	has_symptom
+f9d39424adca1fe3bd6197726b1212619bb38f73	An 83-year-old man with a history of carbon ion radiotherapy for @DISEASE$ nine years ago presented to a primary care hospital with a fever and @PHENOTYPICFEATURE$.	has_symptom
+bf77fd1cc88ce0ba20e1a6ba5bb13dd648d7d452	We herein report a case of late onset of severe GVHD 4 months after cadaveric liver transplantation for @DISEASE$ in a 54-year-old woman, which was characterized by refractory diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+3f424940cf28de02e50c3667f893652421af3540	5-Aminolevulinic acid (ALA) is a heme precursor that accumulates in acute intermittent porphyria (AIP) due to enzymatic deficiencies in the heme biosynthetic pathway Its accumulation has been associated with several symptoms, such as @PHENOTYPICFEATURE$ attacks, neuromuscular weaknesses, neuropsychiatric alterations and increased @DISEASE$ (HCC) incidence.	has_symptom
+0d6805d5844a1a5ecc5f28d43fcd7f5bf3066dc3	The typical @DISEASE$ patient was a 49-year-old male positive for hepatitis B surface antigen presenting with hepatomegaly (93%), @PHENOTYPICFEATURE$ (94%) and weight loss (95%) 8 weeks after symptom onset.	has_symptom
+52acfd8de881d782e7d767243d78e78c6388bef6	@DISEASE$ often arises in people with underlying viral hepatitides or liver cirrhosis and may present in various ways including @PHENOTYPICFEATURE$, liver mass, and signs of hepatocellular decompensation.	has_symptom
+699bae384c81543379ff0a8b5cfc8536f4d8a7c7	Symptoms associated with @DISEASE$ include fatigue, weight loss, @PHENOTYPICFEATURE$, pruritus and jaundice, which may also be caused by the underlying liver disease.	has_symptom
+498d9d3c1f9e113196ffa23103f3fec508412ae8	Symptoms associated with HCC include fatigue, @PHENOTYPICFEATURE$, @DISEASE$, pruritus and jaundice, which may also be caused by the underlying liver disease.	false
+26358db47060725b30fd24581b9290befd43bed6	Symptoms associated with @DISEASE$ include fatigue, @PHENOTYPICFEATURE$, abdominal pain, pruritus and jaundice, which may also be caused by the underlying liver disease.	false
+aa934c426b32b164807395c574e845d5ae497017	Symptoms associated with HCC include fatigue, @PHENOTYPICFEATURE$, abdominal pain, pruritus and jaundice, which may also be caused by the underlying @DISEASE$.	false
+5f8a7f374d531961a1cace5dd310a3be404c0af3	We report the case of a 28-year-old female subject affected by the attenuated phenotype of @DISEASE$ characterized by moderate slowly evolving @PHENOTYPICFEATURE$ in which the urinary content of heparan sulfate was demonstrated as being substantially low compared to that found in patients with the severe phenotype.	has_symptom
+cfc6dacf2d5e3f2a9e0b7db243704b2f91bd8847	Global developmental delay and @PHENOTYPICFEATURE$ are associated with X-linked disorders including Hunter syndrome (@DISEASE$) and Fragile X syndrome (FXS).	has_symptom
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	has_symptom
+3072755021b12f89814ea3ae976b1dd171fd2f0f	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	false
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	false
+bdd46963fa34a9f6a38f3af806f3effe46fdc229	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @DISEASE$, behavioural problems and @PHENOTYPICFEATURE$.	false
+a33def2ec600342b2f9843dcff4ca4da6ef468c7	However, symptomatic pulmonary disease may occur with @PHENOTYPICFEATURE$, cough, chest pain, hemoptysis, dyspnea, and wheezing due to (1) @DISEASE$, (2) the effects of larval tissue migration, (3) airway reactivity or bronchospasm, (4) infectious bacterial complications from parasitic migration and associated aspiration, and rarely (5) chronic eosinophilic pneumonia, transdiaphragmatic penetration, or symptoms of upper airway obstruction.	has_symptom
+10acc67b40e89aa814b46d97cac110fa60cf4f5a	@DISEASE$ (DM) is an autoimmune disease of unknown origin characterized by @PHENOTYPICFEATURE$ and skin manifestations.	has_symptom
+b6fb0d45f6922d2d8d6205e373792ae845c3e609	@DISEASE$ is a rare inflammatory myopathy with characteristic skin manifestations and @PHENOTYPICFEATURE$.	has_symptom
+5db416c0a93fa7e3654d0634dd2149e9fdc5aa6c	@DISEASE$ is an infrequently reported cause of @PHENOTYPICFEATURE$.	has_symptom
+36687d7036890a04b94fe8f177afecd21853aba7	@DISEASE$ (HNPP) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy.	has_symptom
+8bf26ff332cf00abaa6576dabf714551c8f223fe	@DISEASE$ (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited @PHENOTYPICFEATURE$.	has_symptom
+8f110f6376ccdd50345198c4e972d796c45e3c41	@DISEASE$ (HNPP) is an autosomal-dominant @PHENOTYPICFEATURE$ that results from deletion of a 1.5-Megabase pair (Mb) segment of the short arm (p) of chromosome 17.	has_symptom
+83427d94cad903ef83b6ea8237ebb9fabad3c2c4	@DISEASE$ (HNPP) is an autosomal dominant @PHENOTYPICFEATURE$ which is characterized by recurrent episodes of truncular palsies.	has_symptom
+40d11f6c63ccc8e4f8a9c6642fad1851c84c84ce	@DISEASE$ (HNPP) is an autosomal dominant @PHENOTYPICFEATURE$ caused by mutations in the peripheral myelin protein 22 (PMP22) gene.	has_symptom
+85ae2e38f0e46eb2f89da6406027e9bf5a4a3a5e	@DISEASE$ (HNPP) is an autosomal-dominant @PHENOTYPICFEATURE$ characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression and trauma.	has_symptom
+f01a049d2c7a04e7e84b20677beeb2027f1b8c72	Our data suggest that neurophysiological studies are essential to characterize underdiagnosed @DISEASE$ patients referred for @PHENOTYPICFEATURE$.	has_symptom
+ddeb03791b9b1629e39c2cdfc93fd60c6061d624	@DISEASE$ (HNPP) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by recurrent episodes of nerve palsies.	has_symptom
+b4185541fe7a9b8493095a6ef69e942aab9f3d5a	Recently, the same segment has been found to be deleted in patients with another @PHENOTYPICFEATURE$, @DISEASE$ (HNPP).	has_symptom
+a3ede9e93a1237f4c4be09f4e2ab727a5aaf294f	@DISEASE$ is an autoimmune condition characterised by @PHENOTYPICFEATURE$ target lesions on the skin with involvement of the oral and genital mucosa and conjunctivae.	has_symptom
+4ca9dd580f44fd6df2684312e153d7b449ca412a	@DISEASE$ is a common condition characterised by @PHENOTYPICFEATURE$ target lesions on the skin and involvement of the oral mucosa, genitals and conjunctivae.	has_symptom
+d879fb4bbda28697f6559a09602e5efc7a4376c3	@DISEASE$ (SJS) and toxic epidermal necrolysis (TEN) are @PHENOTYPICFEATURE$ skin lesions with blister formation accompanied by mucosal involvement.	has_symptom
+6476e8d85f7621e23fd0d02d3a2bac639a0a4122	Severe bullous skin reactions nowadays are classified into erythema exsudativum multiforme majus (EEMM), Stevens-Johnson syndrome (SJS), overlap @DISEASE$-toxic epidermal necrolysis (SJS/TEN), TEN with maculae and TEN on large @PHENOTYPICFEATURE$, and they are most often caused by antibiotics and anticonvulsant drugs.	has_symptom
+6d99795bba4dbedfcfd54dfe771f1fb6bf2db235	Severe bullous skin reactions nowadays are classified into erythema exsudativum multiforme majus (EEMM), @DISEASE$ (SJS), overlap Stevens-Johnson syndrome-toxic epidermal necrolysis (SJS/TEN), TEN with maculae and TEN on large @PHENOTYPICFEATURE$, and they are most often caused by antibiotics and anticonvulsant drugs.	has_symptom
+7e1b9c6d41270dc76f1933534a8c471fc40305fe	One case presented with @DISEASE$, and the other had systemic papular @PHENOTYPICFEATURE$.	has_symptom
+7edb5c7bef7ed46dc4794904e269ad64c35745c4	Her mucosal erosion and facial skin @PHENOTYPICFEATURE$ progressed over the following week, and @DISEASE$ was diagnosed due to pathological findings of the skin.	has_symptom
+2ab9f19f522475d646dd74f709ff8efb372c954f	Whenever a patient presents with @PHENOTYPICFEATURE$ skin lesions and a recent history of receiving penicillin or a cephalosporin antibiotic, a sulfa derivative, or an anticonvulsant, the suspected medication should be stopped until @DISEASE$ is ruled out.	has_symptom
+818d5385e44fd1a252e7e97249867c7dc4612146	On day 10, a high fever of 39.3 ?C and a diffuse, @PHENOTYPICFEATURE$, pruritic full-body rash involving the palms of her hands and the soles of her feet developed, and she was diagnosed with @DISEASE$ (SJS).	has_symptom
+027e45e0bff69c379199fdf8c00656f18b73b9e6	To report a case of fungal keratitis of the eye caused by Pichia anomala in a patient with systemic lupus @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ef8afc098ea0f360f2a2565723f89d90516bf0f5	Erythema multiforme majus (EMM) and @DISEASE$ (SJS)/toxic epidermal necrolysis (TEN) are severe cutaneous reactions characterised by targetoid @PHENOTYPICFEATURE$ lesions and mucocutaneous involvement.	has_symptom
+862fe93a1749aa30577c7f20cef8cccfc7c13274	Most children with @DISEASE$ initially present with @PHENOTYPICFEATURE$, meningeal signs, and acute encephalopathy.	has_symptom
+d1a72057ae23b3e4d738567228328b63d2d41fda	@DISEASE$ is a rare syndrome characterized by growth retardation, peripheral dysostosis and @PHENOTYPICFEATURE$.	has_symptom
+ef9e911f9bd3021600d17c786b37f2b80eaa29f4	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, peripheral dysostosis and mental deficiency.	false
+97bd63f93d643911defa914cd724c03a9be8ce88	Acrodysostosis is a rare syndrome characterized by @PHENOTYPICFEATURE$, peripheral dysostosis and @DISEASE$.	false
+b2ec2b14429c593b4765400d220612b973e359c0	Acrodysostosis is a rare syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$ and mental deficiency.	false
+0cdaf5675b23360f0f220da58ccc1efefecb671a	@DISEASE$ is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of @PHENOTYPICFEATURE$.	has_symptom
+adb6e2b5ff7a173eb44c336becf250a9df54f453	Acrodysostosis is a rare @DISEASE$ syndrome characterized by peculiar facial appearance with a small nose and an open mouth, @PHENOTYPICFEATURE$, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation.	false
+2e36232e58f522158d4c6f1bcc2c77f6845e554d	@DISEASE$ is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, @PHENOTYPICFEATURE$, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation.	false
+339dbb23312292c3530dbc4d9bc5be0a990708eb	Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, @PHENOTYPICFEATURE$, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of @DISEASE$.	false
+ce2cf4923aa54681aaa8d79e3a62733563a89416	Acrodysostosis is a rare congenital anomaly @DISEASE$ characterized by peculiar facial appearance with a small nose and an open mouth, @PHENOTYPICFEATURE$, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation.	false
+295b744457d8d6cc2667cae0597db5e2d97e1375	We describe a two and half year old male child with @DISEASE$, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and @PHENOTYPICFEATURE$.	has_symptom
+6924d044038d1d83e982e3079bf0f5ce8d5b6957	Two cases are presented which fulfill all of the major features of @DISEASE$: peripheral dysostosis, nasal hypoplasia (pug nose), and @PHENOTYPICFEATURE$.	has_symptom
+f2ad55048e9a1f85cd949517c23d2dbb6a8c81aa	@DISEASE$ is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia, and frequently @PHENOTYPICFEATURE$.	has_symptom
+3d60a796c993d58eb74ffeee8924c39ca633d0eb	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of @PHENOTYPICFEATURE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	has_symptom
+faa1eb7483df1236e72218c59389e73f1121a25a	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @PHENOTYPICFEATURE$, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+5240bbd2569eb8fb5cf6e1a31e19712dcd69ca59	Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @PHENOTYPICFEATURE$, midfacial hypoplasia, and short stature, varying degrees of @DISEASE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+875d526f58e6b8f9d1562256641dc4e10c075994	Acrodysostosis is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of @DISEASE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+32dd6a9258f59465f24a5112a216c591c83f718b	Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and @PHENOTYPICFEATURE$, varying degrees of @DISEASE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+437848566b1a35d896f8a45b5f171334f46ae1ba	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and @PHENOTYPICFEATURE$, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+77f4e437013b50b4f9e7dec95972b5a3e2311646	@DISEASE$ is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+cc476b12c2effdc2b9c5b66f59ab74e8c2384934	@DISEASE$ is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently @PHENOTYPICFEATURE$.	has_symptom
+6b0f2655a897bad78ded14239d7158dc759a0574	@DISEASE$ is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+4ebfde8ee553f194d1c915e48cd34bae9a7121b3	Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe @PHENOTYPICFEATURE$, and varying degrees of hearing loss and @DISEASE$.	false
+e6b24d5bbd5c1b0b33f0a7999a684dd5aeddd86e	Acrodysostosis is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and @DISEASE$.	false
+57d3a1889d98825b1c6cd641a38aadfbae3da14a	Acrodysostosis is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of @DISEASE$ and mental retardation.	false
+9533460b7134dcecff3e33744b0c51ae6d6fa733	Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe @PHENOTYPICFEATURE$, and varying degrees of @DISEASE$ and mental retardation.	false
+793ad1dda34d953e077e32d2f6a97ab6baca4a00	@DISEASE$ is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe @PHENOTYPICFEATURE$, and varying degrees of hearing loss and mental retardation.	false
+7f7db38970ede9b7151dfae931c47e32873348f6	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation.	false
+1e2d04d47bf0c4498979671b5f94842c30b33ad1	Acrodysostosis is an uncommon @PHENOTYPICFEATURE$ associated with @DISEASE$ hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation.	false
+d12eca134dc01b8f374ec051cb87dcbcf02cdc87	Acrodysostosis is an uncommon skeletal dysplasia associated with @DISEASE$ hypoplasia, midface deficiency, severe @PHENOTYPICFEATURE$, and varying degrees of hearing loss and mental retardation.	false
+e5a32188c3a589a8a0bb6af6e3451d9ff4b440b8	Cardiac patients with systemic @DISEASE$ have a high incidence of arrhythmias and @PHENOTYPICFEATURE$-related death.	has_symptom
+8b93e86363f5e77b142cf97067f1e6b5539f4826	@PHENOTYPICFEATURE$ and ambiguous external genitalia were present in addition to anomalies characteristic of @DISEASE$.	has_symptom
+cfc3b1a4fda398ca38390652c326d860700f6f96	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and micrognathia).	has_symptom
+14445a14fa212f2874c09759231412cc49822f6d	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+526adb7c4348dd7412914598e806c216348fb9a4	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+c0ba9448594b68b2ad9dff8b432f0d8fa88b173e	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+6c17af69f27d0087701e6edc58cacd9d37bd41bc	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+47dbe2946f1253de13c3d7142620dd46cebac10d	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @PHENOTYPICFEATURE$).	false
+3b382f192d1bdab9122e3a22cfb17a75257ade75	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @DISEASE$, and micrognathia).	false
+d514f5aa1e36564782a1ffad7b7c32751f3c9600	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @PHENOTYPICFEATURE$).	false
+9431f47ef165c6f8bf0a24ebede84e295aae90b5	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, @DISEASE$, and micrognathia).	false
+519fbf661b17bb8a281e57e46fd5f2468eff0d9a	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+b8423ccac0f0648a7f86c1254c9c5ef73eeccacd	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and @DISEASE$; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.	has_symptom
+43010836ac7ca0583d3031439b57d2a91a38003a	To evaluate visual impairment in Finnish @DISEASE$ (USH3) and compare this with @PHENOTYPICFEATURE$ in Usher syndrome types 1b (USH1b) and 2a (USH2a).	has_symptom
+f4f9efd1dcfb1a89c18b93f345734498c8b246e3	To evaluate @PHENOTYPICFEATURE$ in Finnish @DISEASE$ (USH3) and compare this with visual impairment in Usher syndrome types 1b (USH1b) and 2a (USH2a).	has_symptom
+90ba50782d96cd23129be5f750fbc3b799cbbb2f	@DISEASE$ is a rare form of @PHENOTYPICFEATURE$ characterized by unique clinical features that present particular challenges to long-term treatment.	has_symptom
+7c0876856082d05031c4222c02a3521bfa280bd7	@DISEASE$ is an autosomal recessive lysosomal storage disease characterized by @PHENOTYPICFEATURE$ at 10 years of age and other systemic complications.	has_symptom
+41f0f5f6005f057066754090f7ac82959f13f4a6	Complications of @DISEASE$ after @PHENOTYPICFEATURE$.	has_symptom
+5d2a2c3e5c18e97cc9f581a0ac93691c33a4f58d	@DISEASE$ is characterized clinically by generalized proximal renal tubular dysfunction, renal Fanconi Syndrome and progressive @PHENOTYPICFEATURE$.	has_symptom
+11dd54cc4a9ad0135b2ec9ccbb07e05a01da3eaa	@DISEASE$ causes @PHENOTYPICFEATURE$ in most patients at approximately 10 years of age.	has_symptom
+82a26554596b536ccd9c242b5e88fc86aca4576d	@DISEASE$ is a rare inherited metabolic disorder leading to progressive @PHENOTYPICFEATURE$ and extra-renal comorbidity.	has_symptom
+d071b6e8d0793002e22ecb81412f4a6a05d4e0b2	@DISEASE$ is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and @PHENOTYPICFEATURE$.	has_symptom
+61fd0df9471ebe8bed7a7ba35de39485a720b6b3	[Low levels of somatomedin C and @PHENOTYPICFEATURE$ in the @DISEASE$].	has_symptom
+be0acec92bfa9ebbe330a4e84e4b52906a324e3a	Pathogenic submicroscopic imbalances were detectable in a significant proportion of patients with @PHENOTYPICFEATURE$ and features reminiscent of @DISEASE$.	has_symptom
+4e4a05df17acb3423017938178c968ff089dfae7	All patients showed intrauterine and postnatal growth retardation and @PHENOTYPICFEATURE$, both considered as major criteria of @DISEASE$.	has_symptom
+0bf80e0a2bd41bfd97a9586fba1b07e9c8e0f2ed	This study examined cognitive development in Silver-Russell syndrome (@DISEASE$), a condition with intrauterine growth retardation, persisting @PHENOTYPICFEATURE$, and specific stigmata.	has_symptom
+f86c65a772e7487006d91b94e7ae5461705f1d07	This study examined cognitive development in @DISEASE$ (SRS), a condition with intrauterine growth retardation, persisting @PHENOTYPICFEATURE$, and specific stigmata.	has_symptom
+42ab54f3ebda08d7963a59d661206451c7027cb7	They were initially diagnosed with @PHENOTYPICFEATURE$ after SGA birth and @DISEASE$ and treated with GH.	has_symptom
+ab5bd8bc3658046f8bbc72387d5b39b5c3044d15	There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (@DISEASE$), characterised by slow growth in utero leading to @PHENOTYPICFEATURE$ in adulthood.	has_symptom
+5b0010f7fb66f7848db706d839f2b62f977657ec	There is limited information on the psychosocial impact of growing up with @DISEASE$ (SRS), characterised by slow growth in utero leading to @PHENOTYPICFEATURE$ in adulthood.	has_symptom
+4c7eceab5b5094490bd6a3b17c40bbe076f32911	12q14 microdeletion syndrome: A family with @PHENOTYPICFEATURE$ and Silver-Russell syndrome (@DISEASE$)-like phenotype and review of the literature.	has_symptom
+66a3253450ef7d08e745c6841fe694b8d5867637	12q14 microdeletion syndrome: A family with @PHENOTYPICFEATURE$ and @DISEASE$ (SRS)-like phenotype and review of the literature.	has_symptom
+81859e08ff843737062a6a8a28c638ebc226584b	The @DISEASE$ (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and @PHENOTYPICFEATURE$.	has_symptom
+8f56b44257056c100cf341ff554d2bbdb890ad85	The Silver-Russell syndrome (@DISEASE$) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and @PHENOTYPICFEATURE$.	has_symptom
+2df4912ee1799a16a3a5c5abf8d179c64fbbe280	X-linked @PHENOTYPICFEATURE$ with skin pigmentation: evidence for heterogeneity of the @DISEASE$.	has_symptom
+cf46fb829d52998aecebac868ab32b5a604b2172	Silver-Russell syndrome (@DISEASE$) is a very rare genetic disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	has_symptom
+52203b287c70ef895cfe41e9af557b01cdf8bfd2	@DISEASE$ (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, and typical craniofacial abnormalities including micrognathia.	has_symptom
+1d72d13ab0b24222d4d9924d4c45fe688fba6e29	@DISEASE$ (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+b2c50ce78592d1c9ae36bd207bcbd81db71b3c11	Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, @DISEASE$, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+156c7bcd04fc921c43d46effb3ff24236a0b5380	Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by @DISEASE$, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+50a7d079d341b5cf32e33cac05b1b78a93f4d4d0	Silver-Russell syndrome (@DISEASE$) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+c7a5aeecd7a5dedebf4b3c08829737c71490e26e	Silver-Russell syndrome (SRS) is a very rare @DISEASE$ characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including @PHENOTYPICFEATURE$.	false
+173e3c8817edce55e8fb6078c630fe98735d4f21	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @PHENOTYPICFEATURE$, and hyperhidrosis of the palms and soles.	has_symptom
+65e2bfe366a64ebf1ee1b39c71319fc4e4b0823f	Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, @DISEASE$, and hyperhidrosis of the palms and soles.	false
+e3f86c43b69b02d7f9174a57b6845e9745efa89e	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+df0798d84ee99302d3d5506d8943a49dcf97e682	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+c6b89d05cd48a891eaec02839d656932866f143c	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+3ea1626e5173a7818019ed69ca90bf1cbd7f7e46	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+55320a26646081f95cddd154b881156f6dc8e374	Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @DISEASE$, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+87a870e72a9b9379e5311a15d05aa7e68f521006	@PHENOTYPICFEATURE$ ocular lesions have been described in @DISEASE$.	has_symptom
+e261ea1571bafba1112b713aa46ad446b8ad742a	Appendiceal @PHENOTYPICFEATURE$ resembling PHTS of soft tissue in a patient with @DISEASE$.	has_symptom
+9ffa30518320145c3f229d82cd9f10a71490b2b9	Adult-onset @DISEASE$ (LD), or dysplastic cerebellar gangliocytoma, is a @PHENOTYPICFEATURE$ considered pathognomonic for Cowden disease.	has_symptom
+29a13a7d3f8cc3f31ca79faaa22ed31d7887d784	Adult-onset Lhermitte-Duclos disease (LD), or dysplastic cerebellar gangliocytoma, is a @PHENOTYPICFEATURE$ considered pathognomonic for @DISEASE$.	has_symptom
+c6af965b6d9f78b4ed7123837b55f31ee08805cf	Mammary @PHENOTYPICFEATURE$ is a rare lesion commonly associated with @DISEASE$.	has_symptom
+747a433ac64a6644e27d179d070e47784d614c66	Case of @DISEASE$ associated with eccrine angiomatous @PHENOTYPICFEATURE$.	has_symptom
+d3c87407d6b1715771775b39008deca393575424	Lhermitte-Duclos type cerebellum @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+fd7ff8d7d3b6b6cc62c35621c9d5a833b1eae2ed	@DISEASE$ (multiple @PHENOTYPICFEATURE$ and neoplasia syndrome).	has_symptom
+1827d63926aa82397c93fe119ff065abe4214c99	@DISEASE$ (multiple hamartoma and @PHENOTYPICFEATURE$ syndrome).	false
+dff101e4db000fdee6a457782f404ce8208c8694	Cowden's disease (multiple @DISEASE$ and @PHENOTYPICFEATURE$ syndrome).	false
+e7a77aed057b6bc25758e88c2820a89d982c540d	Cowden's disease (multiple hamartoma and @PHENOTYPICFEATURE$ @DISEASE$).	false
+ac807db1672c84394df69209f16cbf46a9075c3f	She later developed multiple @PHENOTYPICFEATURE$ lesions and was diagnosed to have @DISEASE$.	has_symptom
+eee2463054358401bb668728daa0d0fa89a76fef	Lhermitte-Duclos disease may be a manifestation of @DISEASE$ (multiple @PHENOTYPICFEATURE$-neoplasia syndrome).	has_symptom
+d08f57146468f273e34958e5399ce6a2848a9915	@DISEASE$ may be a manifestation of Cowden syndrome (multiple @PHENOTYPICFEATURE$-neoplasia syndrome).	has_symptom
+0b6c311ae2733d578bfe7d948e455ba9d176177c	Lhermitte-Duclos disease may be a manifestation of Cowden syndrome (multiple hamartoma-@PHENOTYPICFEATURE$ @DISEASE$).	false
+0a2a2922736db0e2c51d5025dab14e333594193d	@DISEASE$ may be a manifestation of Cowden syndrome (multiple hamartoma-@PHENOTYPICFEATURE$ syndrome).	false
+ce9ca4487c11669ac81a60ad51d7fefef17b06ee	Lhermitte-Duclos disease may be a manifestation of @DISEASE$ (multiple hamartoma-@PHENOTYPICFEATURE$ syndrome).	false
+51deb2d3979ecd2787d640b7c9b0eb4eb77e063f	Lhermitte-Duclos disease may be a manifestation of Cowden syndrome (multiple @DISEASE$-@PHENOTYPICFEATURE$ syndrome).	false
+f4862b21404fd925182cc26d7d8a4a8d8b84ea76	Lhermitte-Duclos disease was recently considered to be part of a multiple @PHENOTYPICFEATURE$-neoplasia syndrome (@DISEASE$).	has_symptom
+598a2b14819368b5af0f14ad1245535dcbe519de	@DISEASE$ was recently considered to be part of a multiple @PHENOTYPICFEATURE$-neoplasia syndrome (Cowden disease).	has_symptom
+10de2b88f6ea8fe4e1f72db0152bbe5b9dc853ad	Lhermitte-Duclos disease was recently considered to be part of a multiple @DISEASE$-@PHENOTYPICFEATURE$ syndrome (Cowden disease).	false
+665373516427c81c84bdcbde38e84684cab4db2e	Lhermitte-Duclos disease was recently considered to be part of a multiple hamartoma-@PHENOTYPICFEATURE$ @DISEASE$ (Cowden disease).	false
+7d1386ab4c6885bbc636ae44ca66b52ced55557d	Lhermitte-Duclos disease was recently considered to be part of a multiple hamartoma-@PHENOTYPICFEATURE$ syndrome (@DISEASE$).	false
+806aada1f9086bb0a80f86bf2a9250fbec45d250	@DISEASE$ was recently considered to be part of a multiple hamartoma-@PHENOTYPICFEATURE$ syndrome (Cowden disease).	false
+cd15172aafeab91bd3e7b480483b0752b383a81d	@DISEASE$ is an autosomal dominant disorder with increased risks of neoplasias, @PHENOTYPICFEATURE$, and developmental disabilities.	has_symptom
+943dbbb1c0a48a6b594fd5593f556fd3d4a7cd15	Bannayan--Riley--Ruvalcaba syndrome (BRRS) is a rare, usually autosomal dominant, disease associated with the @DISEASE$, and it is clinically diagnosed in the presence of the triad of @PHENOTYPICFEATURE$, genital lentiginosis, and intestinal polyposis.	has_symptom
+714d6f99d2a556b418b25def0c4233251732f6a2	@DISEASE$ (PHTS) is an autosomal-dominant genetic condition underlying a subset of autism spectrum disorder (ASD) with @PHENOTYPICFEATURE$.	has_symptom
+2ffbf0640d8ef9912c0d99b7983f792eeaad9fea	Originally shown to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and endometrial cancers, and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by lipomatosis, @PHENOTYPICFEATURE$, and speckled penis, the @DISEASE$ spectrum has broadened to include Proteus syndrome and Proteus-like syndromes.	has_symptom
+53630a3745ad0b8778ae153b3113c2f514fb15ac	Considering the diagnosis of @DISEASE$ in patients with neonatal @PHENOTYPICFEATURE$ and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families.	has_symptom
+5eee5dcba4762b4d9ebc13dd6fa02456d815f479	Considering the diagnosis of @DISEASE$ in patients with neonatal microcephaly and @PHENOTYPICFEATURE$ is necessary since an early diagnosis may allow adequate genetic counseling to the families.	false
+a189883c50d2e97798a6a60188bb8445780adffc	Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal @DISEASE$ and @PHENOTYPICFEATURE$ is necessary since an early diagnosis may allow adequate genetic counseling to the families.	false
+972cc3ca66d4a3dad2ffe91cac2c6a36222c89cc	Intracranial calcification and @PHENOTYPICFEATURE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named @DISEASE$.	has_symptom
+5075db8f5fd1985efe13f9a99b5983dea1b7c4e8	@PHENOTYPICFEATURE$ and microcephaly, which represent the main clinical features of the @DISEASE$, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome.	false
+fe476058918b5e0997bfbca582697837b8e141ad	@PHENOTYPICFEATURE$ and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive @DISEASE$-like condition named pseudo-TORCH syndrome.	false
+cd189ebf8df7c4ea48e21f484f1efa7929c92c85	@PHENOTYPICFEATURE$ and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition @DISEASE$ pseudo-TORCH syndrome.	false
+9d008028f6b3f064b6a6eb9012cf0d8be8eec4b8	@PHENOTYPICFEATURE$ and @DISEASE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome.	false
+4394c32c027fff47509426a2c6b610882c7d233d	@PHENOTYPICFEATURE$ and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named @DISEASE$.	false
+6d718824cf5b8f84ef38968e20c6ea23b2f075f4	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	has_symptom
+78b5f9a9762a2b9f375da656a5d92ceb23fcec1f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+feb87a9698b9605dc055361d666e919a8a738276	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @DISEASE$, intracranial calcification, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+c812c584e88e6ad687d93cbfd35781cb26e9fe09	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @PHENOTYPICFEATURE$, seizures, mental retardation, hepatosplenomegaly and @DISEASE$.	false
+d8ed8f5b09c88e503ec48bdd3ca9d729bc2b129e	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and @DISEASE$.	false
+39e3aa9e9e78cdcb2e760493b1c6673ca38064f4	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @DISEASE$, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+4ae8161bbe9bfa0362bb5cc45bd336bc6c97490f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+3ac4ca19b85939219607a6349e98c9bea9ee201c	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @PHENOTYPICFEATURE$, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+c0699a6f4086ebd42f6cfd1a9cfda32b0131425a	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and @DISEASE$.	false
+bb3c56d24361c3da68e3fb9f613af4d81a2d91d0	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @DISEASE$, @PHENOTYPICFEATURE$, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+b85a7d0a08bc0c38d2292fe3d7ce1dfeb5135242	@DISEASE$ (PTS) is characterized by @PHENOTYPICFEATURE$, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent.	has_symptom
+1163798081bf1a573caba45d64844920299f944f	@DISEASE$ (PTS) is characterized by microcephaly, enlarged ventricles, @PHENOTYPICFEATURE$, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent.	false
+e9ce30e3a3c1c6ef2d1c9246913ef9fb8be42f35	Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, @PHENOTYPICFEATURE$, and, occasionally, by systemic features at birth resembling the sequelae of congenital @DISEASE$ but in the absence of an infectious agent.	false
+ff7722cfe64fc53b3a3ee89e4fc4edef9f5cc7c9	Pseudo-TORCH syndrome (PTS) is characterized by @DISEASE$, enlarged ventricles, @PHENOTYPICFEATURE$, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent.	false
+0b345e8a03cf7320e83a1688497f9c57cdc6a891	Eosinophilic @DISEASE$ is a rare, benign, recurrent disease, clinically characterized by persistent, annular, @PHENOTYPICFEATURE$ lesions, revealing histopathologically perivascular infiltrates with abundant eosinophils.	has_symptom
+3bc77a926fbddf85407f0aa0ba630e4770496dd9	A severe form of this with a generalized exanthem, @PHENOTYPICFEATURE$ and liver involvement has been termed the allopurinol hypersensitivity syndrome (@DISEASE$).	has_symptom
+90901f41e184bfd832040f58c8c9359aa02335c5	An unusual case characterized by @DISEASE$, @PHENOTYPICFEATURE$, polyarthralgias, was developed after PUVAtherapy.	has_symptom
+de57cb5c7a1001a6d3c095db50db169ede0d72f9	The clinical manifestations of @DISEASE$ include a triad of symptoms consisting of dermatologic rashes, @PHENOTYPICFEATURE$, and evidence of systemic organ involvement.	has_symptom
+b5a0eff9f547dede6d767b879c08f85549fbffa6	We describe a 2-year-old female child who presented with @PHENOTYPICFEATURE$, pallor, and generalized lymphadenopathy complicated by the development of @DISEASE$.	has_symptom
+f962b57290caa486339c1bad0c1af033f833c86b	The patient presented with @PHENOTYPICFEATURE$, hepatomegaly, icterus, abnormal liver tests, @DISEASE$, and mononucleosis syndrome.	has_symptom
+032660ffb130abd9c67a3f320e968676141a296a	@DISEASE$ is typically associated with the development of skin rash, @PHENOTYPICFEATURE$ and internal organ dysfunctions.	has_symptom
+62dbb632169d34a7267f7410e938d1abb8cea89d	Anticonvulsant hypersensitivity syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, skin rashes and involvement of the internal organs.	has_symptom
+ef69d248d8066962274d812ee5607900b536ff27	A 37-year-old male presented with @PHENOTYPICFEATURE$ and jaundice was diagnosed as hepatitis A complicated with progressive cholestasis and severe @DISEASE$.	has_symptom
+a9ea4577f436f518a1b9c311dcffffcceb1833d2	A 2-month-old male suffering from @DISEASE$, @PHENOTYPICFEATURE$, jaundice and hepatosplenomegalia underwent fine needle aspiration cytology of the spleen.	has_symptom
+873d7a00b6e676ba8a15180de5617e0246958224	@DISEASE$ is an infrequent, but potentially serious, clinical entity and must therefore be suspected in patients taking AED who develop @PHENOTYPICFEATURE$, rashes or disorders affecting the internal organs.	has_symptom
+b8ae32f841af25d439d948057b6f9a2574e90881	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, @PHENOTYPICFEATURE$, hypocalcemia, and @DISEASE$ bone disease.	has_symptom
+a42a6cbb45351793adf95425514ba74a13edf888	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, hypophosphatemia, @PHENOTYPICFEATURE$, and @DISEASE$ bone disease.	false
+0007d8544b5777925a98b0a5cd354f1b87d89896	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, hypophosphatemia, @PHENOTYPICFEATURE$, and rachitic @DISEASE$.	false
+ad13e7d28fe02f63e10942577a7abcc769c5ab01	Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, @DISEASE$, @PHENOTYPICFEATURE$, and rachitic bone disease.	false
+220e4efd741c023ce55a48104b9d15209cf661d3	X-Linked Hyp mice exhibit @DISEASE$ bone disease, @PHENOTYPICFEATURE$, impaired renal phosphate reabsorption, and abnormal regulation of renal 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3] metabolism.	has_symptom
+28b0b8e789e7c1d3a98e98b3eef69082225fb268	[Scriver type autosomal @PHENOTYPICFEATURE$ @DISEASE$: a family case].	has_symptom
+cc0a554b5a753973f8a55778c77a511170b60922	Thus, together with previous observations showing a high incidence of PVLO in patients with hypoparathyroidism or familial @PHENOTYPICFEATURE$ @DISEASE$/osteomalacia, the present results suggest that the defect in the action of 1,25(OH)2D may underlie the development of PVLO.	has_symptom
+5b0bfa8d9f98bd8b75ed4506cec49dfa8fa002d8	X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is caused by loss-of-function mutations of PHEX gene in osteoblast cells, leading to @DISEASE$ bone disease and @PHENOTYPICFEATURE$.	has_symptom
+b38511eeaf4bd82a221ab918881f5d37dc06a5da	The X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is caused by loss-of-function mutations of PHEX (phosphate-regulating gene with homology to endopeptidases on the X chromosome) leading to @DISEASE$ bone disease and @PHENOTYPICFEATURE$.	has_symptom
+2aa65f2cfd21e1939335d9e12864f02ab7bcec7b	The X-linked Hyp mouse, a murine homologue of X-linked hypophosphatemia in humans, is characterized by @DISEASE$ bone disease, @PHENOTYPICFEATURE$, impaired renal brush-border membrane Na(+)-phosphate cotransport and abnormal regulation of renal vitamin D metabolism.	has_symptom
+7380376b847001341ccdc845da9c7486dfd788b3	This hereditary syndrome of renal hypophosphataemia differs from the common familial X-linked hypophosphataemia and the recently described autosomal recessive @PHENOTYPICFEATURE$ rickets with hypercalciuria by its dominant mode of inheritance; it differs from hypophosphataemic non-@DISEASE$ bone disease by the elevated serum 1,25 dihydroxyvitamin D levels and hypercalciuria.	has_symptom
+28bf5ea6d4ef8c0c96995e8e77609df32cd987ad	The @DISEASE$ (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and @PHENOTYPICFEATURE$.	has_symptom
+b8d2e2671aad77572fce715abd800f36c2f6c86b	The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, @PHENOTYPICFEATURE$ of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and @DISEASE$.	false
+23056107456c34ac8c94cba514b0a88446a5a93d	The @DISEASE$ (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, @PHENOTYPICFEATURE$ of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia.	false
+a72f21fcb64c5a993742ebb939257e42c4488cc2	A second child with de novo 18q23 deletion and features of macroglossia, naevus flammeus, bilateral @PHENOTYPICFEATURE$ and transient neonatal hypoglycemia, thus also fitting in with the @DISEASE$ diagnostic framework, is here fully reported (Patient 2).	has_symptom
+02ef5c6ca60b4b464747d04bb5e7ec8d4d3066a4	Herein we describe clinical and laboratory findings in two fraternal twins with @DISEASE$ who presented with @PHENOTYPICFEATURE$ and metabolic acidosis.	has_symptom
+84dc68bf21aaac709b450cae34ea2b68649d0a45	Guanidinoacetate methyltransferase deficiency (@DISEASE$) is an inherited neurometabolic disorder clinically characterized by epilepsy and @PHENOTYPICFEATURE$ and biochemically by accumulation of guanidinoacetate (GAA) and depletion of creatine.	has_symptom
+7e1d9177bfdaf9dcf9fac0016adb80be0daa7d0d	@DISEASE$ (GAMT deficiency) is an inherited neurometabolic disorder clinically characterized by epilepsy and @PHENOTYPICFEATURE$ and biochemically by accumulation of guanidinoacetate (GAA) and depletion of creatine.	has_symptom
+3ed69b60155e061497e837e3a727fae25e40ee17	@DISEASE$ (GAMT-deficiency) is an inherited neurometabolic disorder clinically characterized by epilepsy and @PHENOTYPICFEATURE$ and biochemically by accumulation of guanidinoacetate (GAA) and depletion of creatine.	has_symptom
+84dc68bf21aaac709b450cae34ea2b68649d0a45	Guanidinoacetate methyltransferase deficiency (@DISEASE$) is an inherited neurometabolic disorder clinically characterized by epilepsy and @PHENOTYPICFEATURE$ and biochemically by accumulation of guanidinoacetate (GAA) and depletion of creatine.	has_symptom
+dfc7252ee3d0481e3d1b3ff97570913f67f65ac9	The common causes were biliary atresia in 11 (25%) patients, neonatal @PHENOTYPICFEATURE$ and @DISEASE$ in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	has_symptom
+7428355ebf95c387014a8e9f2d2f4f52cbac55c4	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), @DISEASE$ and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+f9ddfd650389b95df58a5955a1caa9d4aa89def2	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and @DISEASE$ major in 1 (2%) patient each.	false
+84b56a2ec467a4f9548648fe5bbf14eabab70069	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic @DISEASE$ in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+92197fdb92de80ffe56ba1f668ba8bfe8d7d23b5	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), @DISEASE$ in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+5c78096ce0a919fd3c25de7deecb11b262c17ed1	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and @DISEASE$ in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+96949b3d16df360882eeedfe6d01a4f4bfacfa51	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, @DISEASE$ (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+45b99ef237c5101431163f1a3f6c5a6be4cfcecf	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal @DISEASE$ and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (GSD) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+6bea32f7cdeb53e3a73cca5c7aea7745023581ff	The common causes were @PHENOTYPICFEATURE$ in 11 (25%) patients, neonatal hepatitis and Wilson's disease in 6 (13%) patients each, glycogen storage disorder (@DISEASE$) and idiopathic hepatitis in 5 patients (11%) each, Hepatitis B in 2 (5%), Hepatitis C in 1 (2%), Hepatitis B and C in 1 (2%), Caroli's disease in 2 (5%), autoimmune hepatitis in 2 (5%); sclerosing cholangitis, viral hemophagocytosis and thalassemia major in 1 (2%) patient each.	false
+3e444be73841c3fb7f09dff6bd4bdd09020ccc18	@DISEASE$ (9.3%), tyrosinemia (7.4%), neonatal @PHENOTYPICFEATURE$ (4.7%), congenital hepatic fibrosis (3.7%), and Caroli disease (1.9%).	has_symptom
+36119dd9cc6a575ad551b2f3c69f59844c8a07b9	These patients underwent diagnosis of several liver diseases, including: NAFLD-associated cirrhosis, hepatitis B, @PHENOTYPICFEATURE$ C, @DISEASE$, autoimune liver diseases, and others.	has_symptom
+e2c1e718ad73deac6c52ea50fa2f8ced6a0f7965	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (biliary atresia, alpha 1-antitrypsin deficiency, @DISEASE$, and neonatal @PHENOTYPICFEATURE$), and the frequency of end-stage liver disease in each disorder.	has_symptom
+22cb915607986126c637c2a9c9bc8040c79e111f	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, @DISEASE$, Wilson's disease, and neonatal hepatitis), and the frequency of end-stage liver disease in each disorder.	false
+2d398f074a4cc60a188c65aabc69bcee457577d6	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of @DISEASE$ in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, Wilson's disease, and neonatal hepatitis), and the frequency of end-stage liver disease in each disorder.	false
+9651e7bbf3b085358252a83189ec7e88757f619d	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, @DISEASE$, and neonatal hepatitis), and the frequency of end-stage liver disease in each disorder.	false
+1183d57b234afc40dc6a0fc6b8f2d80d456f9e49	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, Wilson's disease, and neonatal hepatitis), and the frequency of end-stage @DISEASE$ in each disorder.	false
+1d8363115501fb30468f3a5411ba8fa24d53d7c8	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, Wilson's disease, and neonatal @DISEASE$), and the frequency of end-stage liver disease in each disorder.	false
+36965f37203722215c04ac1b0aa2dd204554f7d8	Heyde Syndrome, in contrast, is an acquired form of von Willebrand syndrome (@DISEASE$) due to calcific @PHENOTYPICFEATURE$, characterised by gastrointestinal bleeding from angiodysplasia.	has_symptom
+9c2aeee00531c8195fe9942fd4b41f3a52d9e9e6	The relationship between @PHENOTYPICFEATURE$, @DISEASE$ and gastrointestinal bleeding in elderly patients is known as Heyde syndrome.	has_symptom
+d687eb0a5b801702762093112098945d323976f5	A 37-year-old man with a history of @PHENOTYPICFEATURE$, diarrhea, and weight loss was found to have an 8-cm-diameter tumor in the head of the pancreas, a biopsy specimen of which revealed histologically and ultrastructurally typical @DISEASE$.	has_symptom
+e57aa7609fc0db725e8d22d7d2582458fff2caf9	A 37-year-old man with a history of @DISEASE$, diarrhea, and weight loss was found to have an 8-cm-diameter @PHENOTYPICFEATURE$ in the head of the pancreas, a biopsy specimen of which revealed histologically and ultrastructurally typical pancreatoblastoma.	false
+dee9054292f553aec9854069201b4c1a3de533a3	A 37-year-old man with a history of abdominal pain, diarrhea, and weight loss was found to have an 8-cm-diameter @PHENOTYPICFEATURE$ in the head of the pancreas, a biopsy specimen of which revealed histologically and ultrastructurally typical @DISEASE$.	false
+58dcdebfebd69aa1f531a87456054e83c71e4917	A 37-year-old man with a history of abdominal pain, @DISEASE$, and weight loss was found to have an 8-cm-diameter @PHENOTYPICFEATURE$ in the head of the pancreas, a biopsy specimen of which revealed histologically and ultrastructurally typical pancreatoblastoma.	false
+ed8809955d253ab72e95cd211e1254f8dbbb23fb	E167K polymorphism of TM6SF2 gene affects cell cycle of @PHENOTYPICFEATURE$ cell @DISEASE$ 1-6.	has_symptom
+5c1c0a33d9fe53386d8dcb4bcef4335c83178cdf	@DISEASE$ dysfunction, including development of @PHENOTYPICFEATURE$ and other liver lesions has been increasingly reported following Fontan procedure for congenital heart disease.	has_symptom
+6435677d99f7a0705b7df24714d52eef32be8bb1	@DISEASE$ fibrosis is a naturally occurring wound-healing reaction, with an imbalance of extracellular matrix (ECM) during tissue repair response, which can further deteriorate to @PHENOTYPICFEATURE$ without timely treatment.	has_symptom
+71ac8126b6d6ed15d38c643c0d25c0578f567bf9	To determine the maximum tolerated dose per day of silybin phosphatidylcholine (Siliphos) in patients with advanced @PHENOTYPICFEATURE$ (HCC) and @DISEASE$ dysfunction.	has_symptom
+9131a90722e879140f36121981068f6855ce61cf	Sorafenib is not recommended for advanced @PHENOTYPICFEATURE$ (HCC) patients with Vp4 (portal invasion at the main trunk) by the Japan Society of Hepatology (JSH) due to a risk of @DISEASE$ failure.	has_symptom
+36b198c54e2bf86179b9436f8039d961e5477c0d	We also discuss infectious etiologies of rheumatic complaints, such as leprosy, tuberculosis, and @DISEASE$ @PHENOTYPICFEATURE$, which are often encountered here, and pose a diagnostic as well as therapeutic challenge for clinicians.	has_symptom
+927abe37ddd1b7818716413e91bb9051afaef895	The coincidence of facioscapulohumeral muscular dystrophy (@DISEASE$) with @PHENOTYPICFEATURE$ and retinal abnormalities might imply genetic heterogeneity of FSHD.	has_symptom
+8a6a9edbb9dff86ffed0b712c92f50d89d1042bd	The coincidence of @DISEASE$ (FSHD) with @PHENOTYPICFEATURE$ and retinal abnormalities might imply genetic heterogeneity of FSHD.	has_symptom
+2dd86f53edd61bef6d2f8769ef4b641c1560cbd2	The coincidence of facioscapulohumeral muscular dystrophy (FSHD) with @PHENOTYPICFEATURE$ and retinal abnormalities might imply genetic heterogeneity of @DISEASE$.	has_symptom
+ecf10ede54a7b5af8594813e5a40b42438591f34	Progressive and severe facioscapulohumeral dystrophy accompanied by facial diplegia and @PHENOTYPICFEATURE$ may represent a separate genetic form of @DISEASE$.	has_symptom
+256ed47aee280bdf5b9816b42f3132d59bb1cea9	Progressive and severe @DISEASE$ accompanied by facial diplegia and @PHENOTYPICFEATURE$ may represent a separate genetic form of facioscapulohumeral dystrophy.	has_symptom
+8b731225068a0c0a9c9d73b3522d8375e65a6d9e	[A case of @DISEASE$ with infantile spasms, @PHENOTYPICFEATURE$ and retinal vessel abnormality].	has_symptom
+9357229d17c84fb068495238e1e11e80571f041b	[A case of @DISEASE$ with @PHENOTYPICFEATURE$ and retinal angioma].	has_symptom
+968b9c2e7a7916994a135e3f85812099893844fd	We report on a mother and her three children with facioscapulohumeral dystrophy (@DISEASE$), @PHENOTYPICFEATURE$, and marked tortuosity of the retinal vessels.	has_symptom
+a984609cc66fb2caa4109ca8cc5393189d863b5f	We report on a mother and her three children with @DISEASE$ (FSHD), @PHENOTYPICFEATURE$, and marked tortuosity of the retinal vessels.	has_symptom
+de9fb0f957733b54a8d579fef9edf41695b2631f	Congenital facial diplegia and @PHENOTYPICFEATURE$ in three children suggest that infantile @DISEASE$ is not a genetically separate disorder from FSHD.	has_symptom
+8fda7014d43e978d76dc45bf4e6ed6c06cf59efa	Congenital facial diplegia and @PHENOTYPICFEATURE$ in three children suggest that infantile FSHD is not a genetically separate disorder from @DISEASE$.	has_symptom
+34a27736b0224c3d3ae13b219bfbd98db404c265	We report a sporadic case of 12 years old boy with @DISEASE$ (FSHD), @PHENOTYPICFEATURE$ and exudative angioma of bilateral retina.	has_symptom
+673988b0f9128b5c658a63b2afff2dfb4915d4cb	We report a sporadic case of 12 years old boy with facioscapulohumeral dystrophy (@DISEASE$), @PHENOTYPICFEATURE$ and exudative angioma of bilateral retina.	has_symptom
+f8987ce5373cc98cfb45474b87b4c4cfec4bb571	@DISEASE$ associated with @PHENOTYPICFEATURE$, tortuosity of retinal arterioles, and an early onset and rapid progression of respiratory failure.	has_symptom
+aa288d117ce2c52c6fef1ad2e8807fa74b75d2d8	@DISEASE$ presenting in infancy with facial diplegia and @PHENOTYPICFEATURE$.	has_symptom
+ddb6168efd4bfea4580f6876360e4336a9e9ee7c	We report an 18-year-old female with @DISEASE$ (FSHD), who had @PHENOTYPICFEATURE$, retinal vessel abnormality, mental retardation, and epilepsy.	has_symptom
+e5b77a66920b1e53b0f039a44268965fd6877b33	We report an 18-year-old female with facioscapulohumeral dystrophy (@DISEASE$), who had @PHENOTYPICFEATURE$, retinal vessel abnormality, mental retardation, and epilepsy.	has_symptom
+9c83b7f693a2c1849caaedfb03f24b5e8d1b7f50	We report an 18-year-old female with facioscapulohumeral dystrophy (@DISEASE$), who had sensorineural deafness, retinal vessel abnormality, @PHENOTYPICFEATURE$, and epilepsy.	false
+028d683da2b3790b919037b627acd0813fb7b652	We report an 18-year-old female with @DISEASE$ (FSHD), who had sensorineural deafness, retinal vessel abnormality, @PHENOTYPICFEATURE$, and epilepsy.	false
+2a83195b44ceb3381bf9ffb30feee57994096fc6	We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had @DISEASE$, retinal vessel abnormality, @PHENOTYPICFEATURE$, and epilepsy.	false
+6ef68d0f8ee2f0e2ec9dc408d9e6a4e418cd1d0a	including the genes causing multiple @DISEASE$ and Robinow/@PHENOTYPICFEATURE$ 1 syndrome.	has_symptom
+166f714d5ee79b3607188f474f16e81bcfd71b92	Mutations of the former cause the @DISEASE$ (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in @PHENOTYPICFEATURE$ type 1B (BDB1).	has_symptom
+ade0c1174781b32b8dcc12bf4c79d05310b5f4d4	The aim of this study was to measure the serum OC level in children with CRF and terminal @PHENOTYPICFEATURE$ (TRF), treated with chronic haemodialysis, and to evaluate the significance of OC compared to other humoral parameters of renal osteodistrophy, such as @DISEASE$ and iPTH.	has_symptom
+47b1b71fc095cc0f4d5225904689080c745dce01	@PHENOTYPICFEATURE$ may be an important cause of ventilatory muscle weakness that can be found in @DISEASE$ and systemic lupus.	has_symptom
+6eb7f726569737e23f2505c3a769919d6c5c1f6d	Central serous chorioretinopathy after trabeculectomy in a patient with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+220a18aa91c98c8f35e611ad6ce2bc98c7abf280	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	has_symptom
+70c42f91eca92b0cb45b1c3d3537eb1ce20c3888	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+753d6ccab020b0a5913002a43f67526f138a5d6f	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+58397924c49912e87c41e75fe7288a2d3c1eb4e6	A 2-year-old patient, diagnosed with @DISEASE$ including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+d449c62a4976dd55b6627410dcf024c5a7675fdf	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+e6de93cbfa9c54aef6e49bd5bd8260affd15d3f7	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+1edaaaadcd3c447145717c6f5359eebed0d2d3c1	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+580570537508323a2e4f0a2dd1686478ae97cf51	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+10ace4404b7162332180f6f82655cb78eb109c47	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, @DISEASE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+3d80c57a32099687f6b1b3ea51dc661c758fdbea	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+61d5dfbde9558448bbc1306fea104d54a6946c1f	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @DISEASE$, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+ff6aa023d341fb914d01000e12a1bec615ce20c0	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+771ac9e05fa35305cce0cfaff66b2e2a413d5af3	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+c98befd167e82ad7ebf1c83ba6ea521a819dae46	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+93d9abe29342cb75719cd95f5fb4cbc5e8bf6731	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+67dfea7bcb77881b734dd2466c77956b8418159c	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+9d345a86566ef28d46ae9c545fc39e22d5b818fd	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+fc288ab84f9cbd01fa1656ca752c1a9815b782e0	We conclude that cardiac @DISEASE$ should also be considered in long-term hemodialysis patients with @PHENOTYPICFEATURE$ as a life-threatening complication.	has_symptom
+a26215139f324dfa99de039dce953f4ee761d6ac	The authors analyzed the incidence of @PHENOTYPICFEATURE$ development and the visual outcome of cataract surgery performed on patients with @DISEASE$-associated uveitis who were treated at the Immunology Service at the Massachusetts Eye and Ear Infirmary during a 17-year period.	has_symptom
+d6f93f578107ec2d7c541427149c32efce09d4f3	The authors analyzed the incidence of cataract development and the visual outcome of @PHENOTYPICFEATURE$ surgery performed on patients with @DISEASE$-associated uveitis who were treated at the Immunology Service at the Massachusetts Eye and Ear Infirmary during a 17-year period.	has_symptom
+7a6fdfffb7501913f658ab594faf50e3f4f6bc69	Posterior chamber lens implantation and @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$-associated uveitis can be well tolerated when absolute control of the inflammation is achieved.	has_symptom
+cf84370c00fcf869fc09dd79e62afaaada1cb465	The findings in a stillborn female fetus of 31 weeks' gestation with congenital @DISEASE$, nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal @PHENOTYPICFEATURE$/fibrosis are presented, the first report of this complete constellation.	has_symptom
+37f18675022196187d52894d465dbfb065b8642c	Congenital @DISEASE$ with nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal @PHENOTYPICFEATURE$/fibrosis.	has_symptom
+44e216ed36f29f2b4001ce75c982b77771172703	@DISEASE$ (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	has_symptom
+dc9c3fedb18b685f1e62beca9efce7479f80ed3c	Baraitser-Winter syndrome (@DISEASE$, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+5ed55397da8e7a5daf95b96260be29852b5a8c31	Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, @DISEASE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+8204f85e001404deb8a1b67058672be53ff96228	@DISEASE$ (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+35ea5f3c02b6c745787b087c6556ad6e899bffac	ACTB and ACTG1 mutations have recently been reported to cause @DISEASE$ (BRWS) - a rare condition characterized by @PHENOTYPICFEATURE$, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability.	has_symptom
+378f0e5422b843a69dfd982280c69a7a3e992152	ACTB and ACTG1 mutations have recently been reported to cause @DISEASE$ (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and @PHENOTYPICFEATURE$.	false
+aa5e2184830597fdf20e81feb2711709723693f3	ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct @DISEASE$ anomalies and @PHENOTYPICFEATURE$.	false
+afb42b599589edc101f2134a5cb5d00f6dd5d77c	ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by @DISEASE$, colobomata, neuronal migration disorder, distinct facial anomalies and @PHENOTYPICFEATURE$.	false
+f6a11d4a34a4f4427eb11ad09aa79e0b82658b77	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: @DISEASE$ or Noonan syndrome?	has_symptom
+ea7b6d3eb622d8b64139713212b67de6c2f870e7	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+876d61f45efb566cfd0e2b1b3f75add2080cf541	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: @DISEASE$ or Noonan syndrome?	false
+b920b3cd083b26243f8464e9fcd7d081b1e1d07e	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+e5d3569ee2da0c8440f1e65166c9345cb5e4eb63	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or @DISEASE$?	false
+b4f0cfc3ded552dbcb1c44c23305cb33021b11e4	Iris coloboma, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?	false
+5783d9d6dd54d2e6e8efe8aaf4843426cd8aa037	Iris coloboma, @DISEASE$, hypertelorism, and @PHENOTYPICFEATURE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+143c75ad45ef96ba04e96d2a144f687007286281	@DISEASE$ was first described as a syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	has_symptom
+d27476904f4a912300facbe2cb44ad4a44dd7eaa	Baraitser-Winter syndrome was first described as a syndrome of iris @DISEASE$, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+37f7ea3f1e87422be4764bb8778ea0bcc4d10537	@DISEASE$ was first described as a syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+44df9b6b2249cac3d68ce381cb37f1e13428571d	Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+24fff3150d96da5d2bc608a0a4ff357c876caa9b	@DISEASE$ was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+1e21bfba1e350118fce577e030b97deaa208c53b	Baraitser-Winter syndrome was first described as a syndrome of iris @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+97877194261d6bc0849ea30335b2462809c31cd0	Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, @DISEASE$, hypertelorism, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+c1b233d65b0bb7d1de15bd2b5815976bfe37149d	@DISEASE$ (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	has_symptom
+047497597e58c09cb2ab554a2e78cb370727c5c9	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+8004f3301a8c344388ce650eba9b98e77c45a198	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @DISEASE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+ee3c2467a7102fe0f6967bd3d4a1a5e58be19182	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple @DISEASE$ or a mental-retardation syndrome of unknown etiology.	false
+fce05582d78226f5dfe4a907a971017181a557be	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+669b4760b30146b4ee7888b5b76ec39d71298c5d	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple @DISEASE$ or a mental-retardation syndrome of unknown etiology.	false
+55040c387c30e46ea6cc8b8b9607254e17601566	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation @DISEASE$ of unknown etiology.	false
+37193de3f9fa98e36d9a6f52295e78681235cdf5	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+1d21403599c1a3612c74361105e32ae05c1c40e2	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ @DISEASE$ of unknown etiology.	false
+357b3bd141c7da34c70d7922a4eb0ff82923da4b	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+24f3b8d7597a6282f503d0b906437de7be1e2b4a	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+0578d47f4e65acd8cc8ba2c798ae8eb1557eadc1	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @DISEASE$, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+a76992621cecb1e87a2186dfc2a5ef3afb767009	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+0fd62cdf48bb1f2f095ed476693b10bc3db70389	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation @DISEASE$ of unknown etiology.	false
+01a57a051bc17de290f55a36bc5c54596b5916ae	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+bfee987384992f4fa63fabd2f95469c16488ce0c	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple @DISEASE$ or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	false
+f3a418c812824195391c30a2afc2c79719695c6a	The syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	has_symptom
+b61e8c5a8c8008b1f7fa2a0319487b01b69bcadf	The syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+a91f7f1e0bef6c805dbc674839352cf7ec0843d3	The syndrome of iris coloboma, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+1661d4492bc6ba86a77806624f7a06fe7364622a	The syndrome of iris @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+45d5e8308a08290b44600acabb7ba38f5e945421	The syndrome of iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+a34d39a5669d5c04c6974cbf77210af7d955d057	The syndrome of iris @DISEASE$, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+7089780bedcb8914cb45676b385307b7b76ffe9d	The syndrome of iris coloboma, @DISEASE$, hypertelorism, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+3fdc80bb89074e2b56e7160476377e154978859a	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	has_symptom
+2d61100fd112762242c242c3deeba93c589b65d2	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, @DISEASE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+da2fddd77d09b6f12792742e6c2c40c4b3a94a4d	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, @PHENOTYPICFEATURE$, and dental anomalies.	false
+3b10b6af1f1dac2d72fd08b6edddd3f16e7b8657	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+778ca895bbad6bcb451eff3ade1670d3d3a4fefb	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, proportionate short stature, and dental anomalies.	false
+27216c7d82d90702da0c9c0bb688159f6cb84bdb	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+ad4df9f8a05b1c5c33cd9fb0b4c2a5ea29604e99	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+b8934c6d2b6f5cb930db6874582fead5d6901ea1	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @DISEASE$, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	false
+e201f89e36d2ace725959d79d13739922092f8b2	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @DISEASE$, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+01b6477a920492abf9dfe2e7e989fd76cc23e53e	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+ae9f037211bc9a5e392ea91ff50e361f07525329	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+1614a56ee7047f41779f8dd032114f1b2141636b	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+71ac32b553d961c1facbac602b4c0ecb1cd099c8	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+14bd146672e258982e3fc2862f61f38e97256abe	@DISEASE$ (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral @PHENOTYPICFEATURE$, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies.	has_symptom
+15dd8f3743ba78f8432de1e5bedf586ddd493662	Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral @DISEASE$, congenital cataracts, a narrow, weak, beaked nose, a @PHENOTYPICFEATURE$, and orodental anomalies.	false
+88ddaedb9fcec54879d4aa2b2c34b635b2ea7d75	Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, @DISEASE$, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a @PHENOTYPICFEATURE$, and orodental anomalies.	false
+bf2661272fb5bb7f389295c39e9cf21ecb4f7b70	Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital @DISEASE$, a narrow, weak, beaked nose, a @PHENOTYPICFEATURE$, and orodental anomalies.	false
+a9934c878418f3270c35f04f0a952a85915269b3	@DISEASE$ (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a @PHENOTYPICFEATURE$, and orodental anomalies.	false
+e687f3808c386b518a7f233ba0483678a5affa3a	Hallermann-Streiff syndrome (HSS) is a @DISEASE$ characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a @PHENOTYPICFEATURE$, and orodental anomalies.	false
+0abc398b437d40d0be1f553d8d06f90e8886e4d7	Reported is an atypical, severe case of @DISEASE$ combined with progeria, bilateral @PHENOTYPICFEATURE$, cataracts, and normal chromosome count.	has_symptom
+70ed59e0f3b3db2d1552789e468a5986b6f547f1	Reported is an atypical, severe case of @DISEASE$ combined with progeria, bilateral microphthalmus, @PHENOTYPICFEATURE$, and normal chromosome count.	false
+ef0dd21abcb782b46b56608d37b6ccf14ad64f61	Reported is an atypical, severe case of Hallermann-Streiff syndrome combined with progeria, bilateral @DISEASE$, @PHENOTYPICFEATURE$, and normal chromosome count.	false
+4691d31b352960953548091f62e47478eb50d789	The ODD dysplasia syndrome correlates with the @DISEASE$, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like face, and eye abnormalities (congenital cataracts and @PHENOTYPICFEATURE$).	has_symptom
+f239f2430cecb921ab4b4831d566e8081bc75873	@DISEASE$ with bilateral @PHENOTYPICFEATURE$, pupillary membranes and cataract absorption.	has_symptom
+b70336a75aab39ff7aa51ec5bcfe4357d5123628	Hallermann-Streiff syndrome with bilateral @DISEASE$, pupillary membranes and @PHENOTYPICFEATURE$ absorption.	false
+3569f4ad534f885daa51968709300843217240f9	@DISEASE$ with bilateral microphthalmia, pupillary membranes and @PHENOTYPICFEATURE$ absorption.	false
+c578fc8cc5cb0e57271aa358b4366b03001f10f7	@DISEASE$ is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral @PHENOTYPICFEATURE$.	has_symptom
+e20192bf8256a676187099e50d2e1fa9b500ddd4	Hallermann Streiff syndrome is a rare congenital disorder characterized by dyscephaly, @PHENOTYPICFEATURE$, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral @DISEASE$.	false
+511f3895a6abcfc605d08aae93c0c21914de6340	Hallermann Streiff syndrome is a rare congenital disorder characterized by dyscephaly, @PHENOTYPICFEATURE$, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital @DISEASE$ and bilateral microphthalmia.	false
+d09b9f00eecf86aa06e4bb5331dc30d2a70636e5	@DISEASE$ is a rare congenital disorder characterized by dyscephaly, @PHENOTYPICFEATURE$, proportionate nanism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral microphthalmia.	false
+c9e450aed9282cb41798bba29207f6c2377d302b	The @DISEASE$ is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	has_symptom
+a884c65f7f45dcbdec2500d4c51b841ee94264cd	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @DISEASE$, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+2f98e33841fd9dc70a507ea9cb2c943599ac31ec	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+eb78d7af9b12a043c72ba7bd21a7d5f40ca35a84	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @DISEASE$, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+22a79e2882af525655e095d7bf97200b643682cd	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	false
+334262eb86dd8a9e3f54071119a0293cc42125b4	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+e85c5ebc276def1f2c373b39be532273d0db4b5a	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @DISEASE$, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+a4d833292e24df9f06d2232b664aedd97f1dd104	@DISEASE$ is a rare clinical entity with unknown etiology characterized by a birdlike face, @PHENOTYPICFEATURE$, a beaked nose, hypotrichosis, and proportional small stature.	has_symptom
+d3753d6f119235241530699ada2143b62d345b52	The @DISEASE$ is characterised by systemic and ocular anomalies, including congenital cataract and @PHENOTYPICFEATURE$.	has_symptom
+28cc52151101caf1d2aa6b39fdc19fab0b52cd09	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	has_symptom
+affee32b9ca3e645a59d0ae618e05f0e13fbe6dd	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, @DISEASE$, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+6f161608e9a6fd026a7dbc398d42c4b6d910eef5	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, @DISEASE$, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+19edc53b8b0152ed91b77c62d4749b82e0c0ecf3	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+aa25c046951a9b844ecd1ed2cd87039071aec31c	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+fbd67a20aef2cc2baadd6a4c8ac1f8524c3b19c2	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, @DISEASE$, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+1e4e608ea4f836e98d0498d47453eae63d8e5722	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+50b1eecf849fbcd7c58aefcd188c53713da8173a	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+d0fc785be043f7d5a195a462ea42b08fefc8af06	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+4d1b0fcaa971349e67da97be2da2f381cf4f80cf	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+158794183be8a7e788cb20b8b64b687d83a810a8	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	has_symptom
+d12d14a697a124e923eb5d52ab22090619d5d389	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+d92e795238ddd08ac4a612d6f677e552a9d9e5d4	GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @DISEASE$, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	false
+87676e41f821f00003f01a5df4fdae8885a9fa67	GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, @DISEASE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+f058d396c502d823d5bdf625e780da788fe09cc1	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	false
+07a71ca4e1346f343eed2016e509c5a22157a854	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	false
+54f62a454664cec9d108a7e469941d40a72b5c68	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+a4c4a8bc974f7c95fb7bc4496b5797cd4c64d6ce	A search of MEDLINE, using the keywords cerebrotendinous xanthomatosis, brain @PHENOTYPICFEATURE$, tendon xanthoma, cholestanol, cholesterol and bile alcohol for articles covering clinical manifestations, laboratory findings, pathology, molecular defects and treatment of @DISEASE$, revealed 175 patients with documented CTX.	has_symptom
+e71093cbfb44777945431cbbe188a321178e64c4	A search of MEDLINE, using the keywords cerebrotendinous xanthomatosis, brain @PHENOTYPICFEATURE$, tendon xanthoma, cholestanol, cholesterol and bile alcohol for articles covering clinical manifestations, laboratory findings, pathology, molecular defects and treatment of CTX, revealed 175 patients with documented @DISEASE$.	has_symptom
+078737513b638a48adb65c9ed167528bf5f3a776	A search of MEDLINE, using the keywords @DISEASE$, brain @PHENOTYPICFEATURE$, tendon xanthoma, cholestanol, cholesterol and bile alcohol for articles covering clinical manifestations, laboratory findings, pathology, molecular defects and treatment of CTX, revealed 175 patients with documented CTX.	has_symptom
+e9c5ed869f667a6c7e8621a289381c9e22b76258	In addition to neurologic symptoms, patients with @DISEASE$ develop cataracts, diarrhea, Achilles tendon @PHENOTYPICFEATURE$, atherosclerotic vascular disease, and many other abnormalities.	has_symptom
+9fad3b203d1de95e64b52f412c4a871061449435	@DISEASE$ (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw tumour syndrome (HPT-JT) and in familial hypocalciuric @PHENOTYPICFEATURE$ (FHH).	has_symptom
+afa9363d57cca6780d58844acf46d3f37e9ddb07	@DISEASE$ (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+b3d7708b7ac807e2072a537064f3faeadc05b6ed	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), @DISEASE$ and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+5cb1b6ac63fd09442eb7db5ed6f2eefbf1b2fae8	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of @DISEASE$ (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+8412756591e88e9663485ba9b3103b7b1cc56d6b	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric @DISEASE$ (FHH).	false
+06db9962a8d38b38a10a34f3ff0947ead6e51fc3	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ @DISEASE$ (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+1a99dd80d641e0bc3369817d9f9e8ce0582069c6	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric @PHENOTYPICFEATURE$ (FHH), and @DISEASE$ (FIHP).	has_symptom
+b17380a45fcce8b24c682c2ca79e1ae9f75d18b0	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, @PHENOTYPICFEATURE$-jaw tumour @DISEASE$ (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and familial isolated hyperparathyroidism (FIHP).	false
+1b047ac5e137bf7e57a26dbd60e2e0123d851764	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ @DISEASE$ (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and familial isolated hyperparathyroidism (FIHP).	false
+689725d9a8e6385adc9e5c065e6d4f977406f04d	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric @DISEASE$ (FHH), and familial isolated hyperparathyroidism (FIHP).	false
+302e08c5704481d2afdadc76d611452136de9a7a	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and @DISEASE$ (FIHP).	false
+7c088608d7ab854530516f1f904aecde97e83cd1	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT), familial hypocalciuric @DISEASE$ (FHH), and familial isolated hyperparathyroidism (FIHP).	false
+f9989c8add52b3cf06a628b95ab89ea61b38a9c7	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and @DISEASE$ (FIHP).	false
+04bdb7b92c67570bb78c97913e9c36bef80ff2cc	Creatine Deficiency Syndrome could be Missed Easily: A Case Report of @DISEASE$ Presented with Neurodevelopmental Delay, @PHENOTYPICFEATURE$, and Behavioral Changes, but Normal Structural MRI.	has_symptom
+36faa642dd8a45803e5dbe9ac9a8ff44f2199a7d	Retrospective analysis of data from five new patients with @DISEASE$ (four with delays and @PHENOTYPICFEATURE$, one diagnosed at birth).	has_symptom
+cdaad860c9d63e7f758d85a9c3a6b5560bfaa5f2	Here, we report 9 and 10-year-old cousins with @DISEASE$ caused by a novel mutation who both exhibited neurodevelopmental retardation, @PHENOTYPICFEATURE$, behavioral problems, and autism that began during early infancy.	has_symptom
+2ca78e2e6fbb0e32cdcdf2b3d53ea6c455af90ae	Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, @DISEASE$, behavioral problems, and @PHENOTYPICFEATURE$ that began during early infancy.	false
+c527a1dd81d499b4eddf941cdb12a80933f97fde	Here, we report 9 and 10-year-old cousins with @DISEASE$ caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and @PHENOTYPICFEATURE$ that began during early infancy.	false
+ec60d7ab7ad89e2651e52263eaa2326baa9a0d1f	The majority of patients with @DISEASE$ have @PHENOTYPICFEATURE$ and approximately half are drug-resistant.	has_symptom
+0ceddaae9aae9dd411c627ad2cabc51807fda327	Guanidinoacetic acid seems to be responsible for intractable @PHENOTYPICFEATURE$ and the movement disorder, both exclusively found in @DISEASE$.	has_symptom
+b9664aac3754ad09321e121b395598790c3f125a	Guanidinoacetic acid seems to be responsible for intractable seizures and the @PHENOTYPICFEATURE$, both exclusively found in @DISEASE$.	false
+82b91d040df77e7d18102c9355d3fd491287624b	Guanidinoacetic acid seems to be responsible for intractable @DISEASE$ and the @PHENOTYPICFEATURE$, both exclusively found in GAMT deficiency.	false
+8e5c8f6453b96a1e7fdf9c29dd867f3947c1b1e3	Although rare, @DISEASE$ has been identified in children with @PHENOTYPICFEATURE$, extrapyramidal movements, developmental delay, myopathies and behavioral abnormalities.	has_symptom
+4cefa10826815404f6bbacacfa799dea12091b38	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant @PHENOTYPICFEATURE$, movement disorders, mental disability, and autistic-like behavior.	has_symptom
+e4d97fdc5c7a988c76b72d8cdd2a534923fcd0e5	GAMT deficiency results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant @DISEASE$, movement disorders, @PHENOTYPICFEATURE$, and autistic-like behavior.	false
+9752e14f06b52f3e6104e9268e34a3684a63d35b	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, @PHENOTYPICFEATURE$, mental disability, and autistic-like behavior.	false
+9fd9754068c34a10cb3a9f9c91f35dd9e49f45ac	GAMT deficiency results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant @DISEASE$, @PHENOTYPICFEATURE$, mental disability, and autistic-like behavior.	false
+16be88dc27d7c5b22478b9c35839c99c66842e42	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, movement disorders, @PHENOTYPICFEATURE$, and autistic-like behavior.	false
+b1b1c7aef05e1a32a7d5969b59a4210d20e7d81f	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare @PHENOTYPICFEATURE$, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.	has_symptom
+6a36b09a78e70a42cc1db457b41522b35d98dbd9	A case with GAMT deficiency (homozygous c.64dupG mutation) presented with @PHENOTYPICFEATURE$, rare @DISEASE$, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.	false
+d14c2dc637db57a4fa664e63983a9b66fc60a05e	A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare @DISEASE$, @PHENOTYPICFEATURE$, and mild hypotonia, posing diagnostic challenges.	false
+890f83308b58bcabab477bcc155698baab26b02e	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with @PHENOTYPICFEATURE$, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.	false
+82ab71cf8fcd014f263c98d66a7ec8f1885746eb	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, @PHENOTYPICFEATURE$, and mild hypotonia, posing diagnostic challenges.	false
+c2a51a9261b947ccfbd9185ba0a8a6787b8c9a13	@DISEASE$ is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, @PHENOTYPICFEATURE$ and autism, particularly if low serum creatinine levels are observed.	has_symptom
+bb50bc2e4cde16e31a068ee31302e163366aaabc	GAMT deficiency is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, @DISEASE$ and @PHENOTYPICFEATURE$, particularly if low serum creatinine levels are observed.	false
+38e99375f9482dfa13b5a43b4e372675c1d84b34	GAMT deficiency is a treatable @DISEASE$ and should be considered for all patients with hypotonia, developmental delay, seizures and @PHENOTYPICFEATURE$, particularly if low serum creatinine levels are observed.	false
+8a7ba4537c0459a4df30e00d33fc5ef5a407fdd6	@DISEASE$ is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, seizures and @PHENOTYPICFEATURE$, particularly if low serum creatinine levels are observed.	false
+a7fcefd60c4f4449859307055d5c1c2f8750a216	Based on a literature search, we found that the clinical picture of @DISEASE$ has been described in a total of 58 cases, including our two patients, 45 of whom had at least some description of EEG and/or @PHENOTYPICFEATURE$ manifestation.	has_symptom
+6b9401485e60bdb30a18f62331e8ebe7af3116a3	While it has been known for years that iron overload is associated with @PHENOTYPICFEATURE$ in the context of ocular siderosis, intraocular hemorrhage, and the hereditary diseases aceruloplasminemia and @DISEASE$, recent evidence suggests that age-related macular degeneration (AMD) may also be exacerbated by retinal iron overload.	has_symptom
+6dee52e73443a183dea761b006697a9e5dc69c52	The @DISEASE$ (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, @PHENOTYPICFEATURE$, dementia and a progressive course.	has_symptom
+49e1a143db5ae22f504234e5b914393e189c426a	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or @PHENOTYPICFEATURE$ and pyramidal signs.	has_symptom
+a290a7ad9d53618ddc43e65d76e42f395152cd7b	Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @PHENOTYPICFEATURE$ alongside optic nerve atrophy or @DISEASE$ and pyramidal signs.	false
+dbc11e656df3d9de81205f38bcbc713e1dfd4323	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside @PHENOTYPICFEATURE$ or retinal degeneration and pyramidal signs.	false
+b3de566517c80224422a8b65c19765426bcf88b5	Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside @PHENOTYPICFEATURE$ or @DISEASE$ and pyramidal signs.	false
+de56b1ccf84f7638100e462ece98a9ff89d60e8b	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @PHENOTYPICFEATURE$ alongside optic nerve atrophy or retinal degeneration and pyramidal signs.	false
+0ff1719b3adce52caab10b7d6fe08b84a40ad41c	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with @PHENOTYPICFEATURE$ with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	has_symptom
+8ca50ab92635505cdfedfb53d98b5e7178c39001	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with @PHENOTYPICFEATURE$ plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	has_symptom
+5e346368ddc17faca4003c371c59b61932546667	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with @PHENOTYPICFEATURE$ plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	has_symptom
+fd27c5e143042af91b4f7490ae202bf839142213	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren @DISEASE$, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+7ef8c40b6716a522b9e257c3beea5f192afe4f96	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	false
+bb811ff75fd9a218449335c3458d1e4613e8dc5a	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with @DISEASE$ plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+363414f054d3941627e1e7f713d36c2ed6d0398c	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with @DISEASE$ plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+feebf03e2f1f5b7001b002da09ef758e6c9bbc82	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with @DISEASE$ with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+bb1654041a231eb0e7af57ee9211f0e5a39abbd3	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with @DISEASE$ plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+23f110b417e625aedc8d2b05b7951e39446526f8	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with @DISEASE$ of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+915c016846c2e668aef89c59f72b38dac297508e	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren @DISEASE$, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+aa036340accf06e3e5beeec69c62ad0fcbccd27f	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (@DISEASE$) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+08ff57a4a74588429ae6b1aa25cf009b56dea441	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with @DISEASE$ with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+645bd5c6a61b4f03461220b7750810ceb13e13c6	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (@DISEASE$) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+d0fc845bf0509176c9fd53e65cf02bceaecbf155	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with @DISEASE$ of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+812943cef4f4fc10800efe71d4f54b1c6d60a53f	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with @DISEASE$ plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+746a2374f5b8bc8784fcb71de1975403cc8c0b1b	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	false
+b33f47ce1858b9f6d27aa9c533602b65e68f28dd	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, @PHENOTYPICFEATURE$, visual disturbances, @DISEASE$, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	has_symptom
+34af2936d3c42f9315e49413318cf52c39eba4ba	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, @DISEASE$, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+1e005ef1b121b00c1e20e1dc04a8fa8424635c12	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, @PHENOTYPICFEATURE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and @DISEASE$.	false
+48ef7764e43601ec40b1064d746c3a611e8b11ba	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, @DISEASE$, dementia, @PHENOTYPICFEATURE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+4a4731b12dda668ba9e2e72987506f62b1deff33	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, @DISEASE$, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+d323ee1617b494155bc19b236a6c658bba76493a	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic @DISEASE$, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, @PHENOTYPICFEATURE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+0f6a8532f551e956eeb830e81cc0abb17f32073b	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and @DISEASE$.	false
+87700f64045c804559b30ee70f0e26df7173ab1d	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic @DISEASE$, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+0ddd44c05749eedafeeeda807fb37eb1b3f71596	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, @DISEASE$, visual disturbances, Sneddon syndrome, dementia, @PHENOTYPICFEATURE$, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+e913ee69c6cd61cd0e96f8de98908f4c73a9dae3	@DISEASE$ is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, vertigo, transient ischaemic attacks (TIA), stroke, and @PHENOTYPICFEATURE$.	has_symptom
+a0dbdee62b0662322fb87fff6fffe324de272a92	Sneddon syndrome is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, @PHENOTYPICFEATURE$, transient ischaemic attacks (TIA), stroke, and @DISEASE$.	false
+e6b69855a5f4379e22882a5cab1e4f0936b54903	@DISEASE$ is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, @PHENOTYPICFEATURE$, transient ischaemic attacks (TIA), stroke, and seizures.	false
+0719312292b2cb1cc60e4d789eaa1cbfe0617058	Autosomal-recessive @DISEASE$ (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and @PHENOTYPICFEATURE$ is caused by defects in the SMARCAL1 gene.	has_symptom
+6bdf51082428c88c82c2b9032c6d5fe278feda06	@DISEASE$ (SIOD) is a rare, severe, autosomal recessive disorder that results in spondyloepiphyseal dysplasia, renal dysfunction, immunodeficiency, @PHENOTYPICFEATURE$ and growth failure.	has_symptom
+15237d42f6562d19fd462ee56a4fc6b9a1652a78	This review briefly presents such syndromes, including Alzheimer disease, ataxia-telangiectasia, Down syndrome/trisomy 21, Friedreich @PHENOTYPICFEATURE$, Huntington disease, several disorders of mitochondria, myotonic dystrophy, Parkinson disease, Prader-Willi syndrome, Werner syndrome, Wolfram syndrome, mitochondrial disorders affecting oxidative phosphorylation, and vitamin B(1) deficiency/inherited @DISEASE$ as well as their respective relationship to malignancies, cancer, and aging and the nature of their inheritance (including triplet repeat expansions), genetic loci, and corresponding functional biochemistry.	has_symptom
+57d98d51e6da838dc17a03f9acb36c92417f369c	@DISEASE$ (MPS III) is characterized by progressive neurological deterioration, @PHENOTYPICFEATURE$, a relatively mild somatic phenotype, and early mortality.	has_symptom
+34e7eaef2172b396dbe7afcb4973bf42fe3527a3	@DISEASE$ is an autosomal recessive disorder with highly variable symptoms, including @PHENOTYPICFEATURE$, skin lesions, and abnormalities of collagenous tissues.	has_symptom
+90ea38124b110fa467e3224bb36d508dc8b8913c	@DISEASE$ has been related to @PHENOTYPICFEATURE$ and oxidative stress.	has_symptom
+a20b04f9370e3023a5da477cb06e5a4665b5b07d	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and various skin lesions.	has_symptom
+34dbf9d88a28da3794e98c31ee269c408949c794	@DISEASE$ is a rare autosomal recessive disorder characterized by cutaneous ulcers, facial dysmorphism, recurrent infections, and @PHENOTYPICFEATURE$.	has_symptom
+85db6c1acaca16796f4524e503b9d3c90d1fa60d	Prolidase deficiency is a rare autosomal recessive disorder characterized by cutaneous ulcers, @PHENOTYPICFEATURE$, recurrent infections, and @DISEASE$.	false
+914bfb44ec74386f596f21f1282ed2bd77b963c8	@DISEASE$ is a rare autosomal recessive disorder characterized by cutaneous ulcers, @PHENOTYPICFEATURE$, recurrent infections, and intellectual disability.	false
+b2dac829fff0c6d6e41f05766f3ca11d6b41a344	@DISEASE$ is a rare, inherited disorder characterized by ulceration of the skin, @PHENOTYPICFEATURE$, and massive urinary excretion of imidodipeptides.	has_symptom
+6bf00e84a0644dced9ec7184d09cbaac4280684e	@DISEASE$ is a rare autosomal recessive disorder characterized by iminodipeptiduria, severe skin ulcers, recurrent infections, and @PHENOTYPICFEATURE$.	has_symptom
+97212f675c8c47223a0e8c17dfde8d8737838d3a	@DISEASE$ is characterized by chronic ulcerative dermatitis, @PHENOTYPICFEATURE$, and frequent infections.	has_symptom
+198c3700a854217babfe6cb5884efc7ee2defae7	Additional features of @DISEASE$ included @PHENOTYPICFEATURE$, short stature, extensive dental caries, and multiple malar teleangiectases.	has_symptom
+0f059306a2482e2022c0ee6e9e723d29732c0cd9	Additional features of @DISEASE$ included mental retardation, @PHENOTYPICFEATURE$, extensive dental caries, and multiple malar teleangiectases.	false
+c244ff510aba462b80b301f84dc16bf30d12622c	Additional features of prolidase deficiency included @DISEASE$, @PHENOTYPICFEATURE$, extensive dental caries, and multiple malar teleangiectases.	false
+c2b887fa9dc7e8f9ae076f55459472037904383a	@DISEASE$ is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, @PHENOTYPICFEATURE$, and recurrent infections.	has_symptom
+33fc2cab7433f757c812bc7356f566b4eef91d51	Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic @PHENOTYPICFEATURE$, a characteristic facial appearance, @DISEASE$, and recurrent infections.	false
+67506618cc668917766449e6aa8dc964e00a52b2	@DISEASE$ is an autosomal recessive disorder, which is associated with chronic @PHENOTYPICFEATURE$, a characteristic facial appearance, mental retardation, and recurrent infections.	false
+3735254d98d619b0bf86c2ce5ac07cfe87a90d4c	@DISEASE$ is an autosomal recessive inherited disease characterized clinically by frequent infections, @PHENOTYPICFEATURE$, and various skin lesions.	has_symptom
+55d161551e840b8f180d3b416da9aac99b0bc0d4	Treatment of anterior @DISEASE$; report on intraspinal administration of pyridoxine and thiamine hydrochloride and artificial @PHENOTYPICFEATURE$ therapy.	has_symptom
+028bc199389e1d5afff20ca9b294561a1ba5932a	@DISEASE$ (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and @PHENOTYPICFEATURE$ or autism.	has_symptom
+4064456d03046bd18d3495ebfa311764c9725d26	Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and @DISEASE$ or @PHENOTYPICFEATURE$.	false
+ffaf8e995a77d2e4be4821557e843b7658bf2a77	@DISEASE$ (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or @PHENOTYPICFEATURE$.	false
+9ea0ab67d87eb18647c348dc5d0ff0b2e6a30893	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @PHENOTYPICFEATURE$, hypotonia, and autism.	has_symptom
+feccfed70743e4adb865655f701dd825c70bb2f3	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @DISEASE$, hypotonia, and autism.	false
+1652b5445596d48fbe3911fbdc0e0f0e131706f9	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, and autism.	false
+0867494fc4e99e9965ce4618fbdf0a981d90f2d8	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @DISEASE$, hypotonia, and @PHENOTYPICFEATURE$.	false
+468b89f2c524118e5c5da1d5a1b8393bf3d1b056	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and @PHENOTYPICFEATURE$.	false
+e63e00b59cef4a34d4b120ef9434be107aa8a462	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+5719bd84805415e561ebbef29a1f88851d0b119f	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and @PHENOTYPICFEATURE$.	false
+3a2ed57775f5c60af550e448ee688a43da1a48b4	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @PHENOTYPICFEATURE$, mental retardation, hypotonia, and autism.	false
+f5db23b0a62f354f9d2fbe6be610082c914e1d3e	Timothy syndrome patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @DISEASE$, hypotonia, and autism.	false
+4127d27d4a41514e616907fb1b61ce748cb5cfdb	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including @PHENOTYPICFEATURE$, mental retardation, hypotonia, and autism.	false
+21b670ad1b1ca966226b8409f72b004677a85d63	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+68107a085b9c2011d69bd4a38d3ae3d282118d0c	@DISEASE$ patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+c866cca1a6f428434c6135a44ddedc68e0afa705	Timothy syndrome patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+b163a5fdcdc5abd94bc61bac223659a9a35c665f	The patient exhibits multiple features suggestive of @DISEASE$, which is a multisystem autosomal-dominant condition with findings that include prolonged QT interval, hand and foot abnormalities, dysmorphic facial features, and @PHENOTYPICFEATURE$.	has_symptom
+bf179decce4956a87fe57d2745a55496d6c03de3	Paget's disease of bone (@DISEASE$) has been repeatedly named as a possible cause for Ludwig van Beethoven's @PHENOTYPICFEATURE$.	has_symptom
+f0b85665ae76a38d483f9ba7acf5b1b73c0091b1	@DISEASE$ comprises retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, mental retardation, renal and genital anomalies.	has_symptom
+5f349f628a9dfe8d786f5fb904914f901c59647c	BBS-6 comprises retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, renal and genital anomalies.	false
+23baaa0336cba4013556cdb2cf436ad6a4097587	BBS-6 comprises @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, mental retardation, renal and genital anomalies.	false
+4432f35757f5c86a620b1143b2986b791ce2b7b5	BBS-6 comprises retinitis pigmentosa, @DISEASE$, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+9a8267cee6e5b0950d59e8719680d45b06793e5a	BBS-6 comprises @DISEASE$, polydactyly, obesity, @PHENOTYPICFEATURE$, renal and genital anomalies.	false
+082fced2219d3eeb8eb492845394fb88fe49ad91	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, @PHENOTYPICFEATURE$, renal and genital anomalies.	false
+80400e8f087b7bf6c6032c8cc7af732a303c56ef	BBS-6 comprises retinitis pigmentosa, @DISEASE$, obesity, @PHENOTYPICFEATURE$, renal and genital anomalies.	false
+a8f5361e5047391ca8d931ce1a872c6dd82eb51c	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+b91914ff8443eab988c13264c475b7f874ad1413	BBS-6 comprises @DISEASE$, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+1361194bbeb8819f6e53e4bce21025973d7a8e0e	@DISEASE$ comprises retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, mental retardation, renal and genital anomalies.	false
+9f68b1de313539dfb8bc18181777d2ee3ed439c6	Individuals with @DISEASE$ present with hepatomegaly, @PHENOTYPICFEATURE$, hyperlipidemia, and growth retardation.	has_symptom
+d38fe585eb5cb335f1046891035cc53b6ddad7f1	Individuals with glycogen storage disease type III present with hepatomegaly, @DISEASE$, @PHENOTYPICFEATURE$, and growth retardation.	false
+6a2b79f51e7e0140d470d264ccb2712285fa80da	Individuals with glycogen storage disease type III present with hepatomegaly, @DISEASE$, hyperlipidemia, and @PHENOTYPICFEATURE$.	false
+63076b624d5fc560696a4ea1228097d17e1f63be	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, hyperlipidemia, and @PHENOTYPICFEATURE$.	false
+a268973c8e01d90b10ad04971eac1bc8c6c3b01b	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$, and growth retardation.	false
+b87bf27392a8e9c6d8c3cae0a1767be68f1dc58d	Reanalysis of the @PHENOTYPICFEATURE$ exome panel highlighted biallelic mutations in WARS2, which lead to the diagnosis of @DISEASE$ (NEMMLAS).	has_symptom
+fa2a865edfc997c3ec6622159578684e379fc9fd	In the present study, a detailed phenotypic analysis performed for a total of five patients with @DISEASE$ revealed that @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections comprise the cardinal features of this condition.	has_symptom
+f1a4f9ea56b07367016946cad8dc3ba5519b318c	In the present study, a detailed phenotypic analysis performed for a total of five patients with @DISEASE$ revealed that intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, hypothyroidism, and frequent infections comprise the cardinal features of this condition.	false
+f946d9b20c442b9b250b6cb765c75da7c9165454	In the present study, a detailed phenotypic analysis performed for a total of five patients with Takenouchi-Kosaki syndrome revealed that intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, @DISEASE$, and frequent infections comprise the cardinal features of this condition.	false
+598cdd6849bd42c11cc75108acb81857c9234033	In the present study, a detailed phenotypic analysis performed for a total of five patients with Takenouchi-Kosaki syndrome revealed that @DISEASE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, hypothyroidism, and frequent infections comprise the cardinal features of this condition.	false
+83baaad7c0eb37aea156c1970c8c0b402d339bec	@DISEASE$ is clinically recognizable by the combined phenotype of @PHENOTYPICFEATURE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	has_symptom
+209e5b91ee708c8ed93c1ea2ae21520a87166140	@DISEASE$ is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+4f7fab676a670dddbd330b150866e29f9088843e	@DISEASE$ is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	false
+a7431c77268478fa932646e1c5fab70d36ffddbd	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, @DISEASE$, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+e69ce5df93f0e360bba7c07cbb66c4104df03aa0	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of @DISEASE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	false
+56a168afe1fa8d4c4a4ef5bc0ef5e2d31037f9e8	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of @DISEASE$, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+0dadf4b8ef564ceec38e8ec5e999ccac6835760c	Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with @PHENOTYPICFEATURE$, @DISEASE$, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.	false
+c5f6745ccc2d8ea1454ea67983d846cef299a67b	Increased growth is also seen in neurofibromatosis, hemangiomatosis, arteriovenous malformations, congenital @PHENOTYPICFEATURE$, and syndromes such as Klippel-Trenaunay-Weber syndrome and @DISEASE$.	has_symptom
+8b5fdc31da8e665cef04310e11ec1709df1a2001	myotonic dystrophy, also called the Curschmann-@DISEASE$, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @PHENOTYPICFEATURE$ and myotonia, which can affect both mother and child.	has_symptom
+b40da6c5698015719d212d9aa60ad188f0133246	myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by @DISEASE$, muscle weakness and @PHENOTYPICFEATURE$, which can affect both mother and child.	false
+4c9e6091e11251cf26c5aea22728aff43a64a7b2	myotonic dystrophy, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, @DISEASE$ and @PHENOTYPICFEATURE$, which can affect both mother and child.	false
+9baa982e959ae371f41c6da9b15d90b21e2e512a	@DISEASE$, also called the Curschmann-Steinert syndrome, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and @PHENOTYPICFEATURE$, which can affect both mother and child.	false
+272481ba766c338786be0d5dc8c8e111f5898676	myotonic dystrophy, also called the Curschmann-@DISEASE$, is an autosomal dominant inherited neuromuscular disorder characterized by progressive muscular dystrophy, muscle weakness and @PHENOTYPICFEATURE$, which can affect both mother and child.	false
+df61c989c4d7fc70fa406d6fda3375b845164126	@DISEASE$ (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by @PHENOTYPICFEATURE$, myotonia, and early-onset cataracts.	has_symptom
+1edf06e23f5a1f89994a7ada3de46dd6e5041759	Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by @DISEASE$, myotonia, and early-onset @PHENOTYPICFEATURE$.	false
+68c3f771b86771f95e1a66d93b1cec1d54cd10ab	@DISEASE$ (DM1) and type 2 (DM2) are autosomal dominant disorders classically characterized by muscle weakness, myotonia, and early-onset @PHENOTYPICFEATURE$.	false
+a5accefb34360df443adba97a21d7b4bd14e6956	@DISEASE$ (DM1) and 2 (DM2) are similar yet distinct autosomal-dominant disorders characterized by @PHENOTYPICFEATURE$, myotonia, cataracts, and multiple organ involvement, including the brain.	has_symptom
+59cce8a6899d40bcce07a405a7d2eb298db0ee77	@DISEASE$ (DM1) and type 2 (DM2) are multisystemic disorders linked to two different genetic loci and characterized by several features including myotonia, @PHENOTYPICFEATURE$ and atrophy, cardiac dysfunctions, cataracts and insulin-resistance.	has_symptom
+4400612c3c5859915f7c6f0a1db3f4dd07b955fa	Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are @DISEASE$ linked to two different genetic loci and characterized by several features including myotonia, muscle weakness and atrophy, cardiac dysfunctions, @PHENOTYPICFEATURE$ and insulin-resistance.	false
+8c7e34d16b909255f063860a0ab20423d5569583	@DISEASE$ (DM1) and type 2 (DM2) are multisystemic disorders linked to two different genetic loci and characterized by several features including myotonia, muscle weakness and atrophy, cardiac dysfunctions, @PHENOTYPICFEATURE$ and insulin-resistance.	false
+3cbfffed15d2c8166d62ea2ae39865bc3bfe5e16	Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are multisystemic disorders linked to two different genetic loci and characterized by several features including myotonia, @DISEASE$ and atrophy, cardiac dysfunctions, @PHENOTYPICFEATURE$ and insulin-resistance.	false
+c31635b32b2e61d04374764dfe80548dbd9369ad	@DISEASE$ is a multisystem disorder with myotonia, @PHENOTYPICFEATURE$, cataracts, endocrine dysfunction, and intellectual impairment.	has_symptom
+5cc95724eeca407f9080fa490af4120f2b980fcb	Myotonic dystrophy type 1 is a multisystem disorder with myotonia, @DISEASE$, @PHENOTYPICFEATURE$, endocrine dysfunction, and intellectual impairment.	false
+308b78635303e35f745036103f700c86d7e25572	@DISEASE$ is a multisystem disorder with myotonia, muscle weakness, @PHENOTYPICFEATURE$, endocrine dysfunction, and intellectual impairment.	false
+bf8373cd279c7d49bc5cde00c115fb066c8eca49	Myotonic dystrophy type 1 is a multisystem disorder with myotonia, @DISEASE$, cataracts, endocrine dysfunction, and @PHENOTYPICFEATURE$.	false
+0b007b39edc3fce0c2bf2227caa3f7777fa0c0b0	@DISEASE$ is a multisystem disorder with myotonia, muscle weakness, cataracts, endocrine dysfunction, and @PHENOTYPICFEATURE$.	false
+90761c0d2734bda695177e5c7f8a0c5d2fba8d77	Myotonic dystrophy type 1 is a @DISEASE$ with myotonia, muscle weakness, @PHENOTYPICFEATURE$, endocrine dysfunction, and intellectual impairment.	false
+c7b1a2435b207711319eb56d2a208b12d430356a	Myotonic dystrophy type 1 is a @DISEASE$ with myotonia, muscle weakness, cataracts, endocrine dysfunction, and @PHENOTYPICFEATURE$.	false
+f022fb0aeca4dc2abbfb5cf6a278a29dcc741c82	@DISEASE$ and 2 (DM1 and DM2) are forms of muscular dystrophy that share similar clinical and molecular manifestations, such as myotonia, @PHENOTYPICFEATURE$, cardiac anomalies, cataracts, and the presence of defined RNA-containing foci in muscle nuclei.	has_symptom
+9c2e1741c9821e4bae15fdb813e9275231201d4e	@DISEASE$ and 2 (DM1 and DM2) are forms of muscular dystrophy that share similar clinical and molecular manifestations, such as myotonia, muscle weakness, @PHENOTYPICFEATURE$, cataracts, and the presence of defined RNA-containing foci in muscle nuclei.	false
+258aecec7d34625980b697b0d74e9b58a878e1e6	Myotonic dystrophy types 1 and 2 (DM1 and DM2) are forms of muscular dystrophy that share similar clinical and molecular manifestations, such as myotonia, @DISEASE$, cardiac anomalies, @PHENOTYPICFEATURE$, and the presence of defined RNA-containing foci in muscle nuclei.	false
+0ab76848074650950b9a774b5c676b4d8b922344	Myotonic dystrophy types 1 and 2 (DM1 and DM2) are forms of muscular dystrophy that share similar clinical and molecular manifestations, such as myotonia, @DISEASE$, @PHENOTYPICFEATURE$, cataracts, and the presence of defined RNA-containing foci in muscle nuclei.	false
+51a4ed95bb5297fe2d6e38de8bf8521470a337de	Myotonic dystrophy types 1 and 2 (DM1 and DM2) are forms of @DISEASE$ that share similar clinical and molecular manifestations, such as myotonia, muscle weakness, cardiac anomalies, @PHENOTYPICFEATURE$, and the presence of defined RNA-containing foci in muscle nuclei.	false
+2b52dc14a9777280eca4f98ebe7ce07c03aae8b6	Myotonic dystrophy types 1 and 2 (DM1 and DM2) are forms of @DISEASE$ that share similar clinical and molecular manifestations, such as myotonia, muscle weakness, @PHENOTYPICFEATURE$, cataracts, and the presence of defined RNA-containing foci in muscle nuclei.	false
+40029787533a34d439df0455c616665be4b15c4d	@DISEASE$ and 2 (DM1 and DM2) are forms of muscular dystrophy that share similar clinical and molecular manifestations, such as myotonia, muscle weakness, cardiac anomalies, @PHENOTYPICFEATURE$, and the presence of defined RNA-containing foci in muscle nuclei.	false
+1c5ac2829e9a369b3a8ade6b192523dcac395a1f	@DISEASE$ (DM1) is a slowly progressive neuromuscular disease characterised by myotonia and @PHENOTYPICFEATURE$ and wasting.	has_symptom
+b1b903d43ec05f398faecd4b5caa1993d7a93f2a	@DISEASE$ (CDM) is a rare neuromuscular disorder characterized by severe hypotonia and @PHENOTYPICFEATURE$ at birth that tends to improve with age.	has_symptom
+3f4229ecc6889e22cfe868d74a8a1c033cebb9e9	@DISEASE$ (DM1), the second most common muscular dystrophy and most prevalent adult form of muscular dystrophy, is characterized by @PHENOTYPICFEATURE$, wasting and myotonia.	has_symptom
+9064475761f3e55a43db8d16003f56547e0b751f	Myotonic dystrophy type 1 (DM1), the second most common @DISEASE$ and most prevalent adult form of @PHENOTYPICFEATURE$, is characterized by muscle weakness, wasting and myotonia.	false
+28fe797993f7768ed215e3a2be37fffe020a0141	Myotonic dystrophy type 1 (DM1), the second most common muscular dystrophy and most prevalent adult form of @PHENOTYPICFEATURE$, is characterized by @DISEASE$, wasting and myotonia.	false
+b9def03ccbc8c6e6db566714f128892714f2ef40	@DISEASE$ (DM1), the second most common muscular dystrophy and most prevalent adult form of @PHENOTYPICFEATURE$, is characterized by muscle weakness, wasting and myotonia.	false
+e1e41c6ef94c3f54952109e096afa632e9cf76e5	@DISEASE$ (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, muscle atrophy, and @PHENOTYPICFEATURE$.	has_symptom
+9ee859831e3fd6ea1d0d0f0c36e742c8eee33fc9	@DISEASE$ (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, @PHENOTYPICFEATURE$, and muscle weakness.	false
+f740ceb4bc85ced6678e2e105de28bd8fc01178a	Myotonic dystrophy type 1 (DM1) and @DISEASE$ (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, @PHENOTYPICFEATURE$, and muscle weakness.	false
+413608535046a617fba891c6cecef94a5ed32766	Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c544495240f0a878b64d6000027e14d6dce57a8c	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	has_symptom
+8db8631d067b829f05eec17faf979db72d8e89f0	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+98228dde03409f499b487a3e303ca06e59d76c76	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+8bb90e3347616eec8b63c96d2204801bdc52fbaf	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+577713e05d64e0ffc35fc01e1e9f28a32513c1cc	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and extremely short telomeres.	false
+5f26c57736defa4c9d929b8c5f4458ad04d7075e	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, @DISEASE$, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+bdae71b7c7c3f0677fe6e3aab383e840cdd5f3f7	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	has_symptom
+457c535f129f3bca17b7d2a5055e49ac304fe316	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and severe immunodeficiency in addition to features of DC.	false
+44d2d008650d6ec4fd779d9ec2b9e60e656ee629	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe @DISEASE$ in addition to features of DC.	false
+31f903ade51fb3e4b243bf8a0ae7d01f6b19bab0	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+644a11fb5921bae1fde6b0b068842f094b7ca7bb	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+afba7e5563454af6e018a4d3b985e9895d8bfce6	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, @DISEASE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+64be2978e3ae167c19fa89a5d515a90952712773	We describe a woman with @DISEASE$ (DKC), @PHENOTYPICFEATURE$, and a purple discoloration of the tongue.	has_symptom
+2a659befc9a6d0c1632a01b741b4fdbc5775fb25	@DISEASE$ (ChAc) is an orphan disease, caused by mutations on chromosome 9. @PHENOTYPICFEATURE$ of mesial temporal origin can be a predominant symptom.	has_symptom
+ba2e826f2ceb51b4ff870344ef84d77f1b0662df	Patients with @DISEASE$ carrying the described rare mutation can present with focal, treatment-resistant @PHENOTYPICFEATURE$.	has_symptom
+c484584a5ad3e63c58c8d3b45e03ed3302926b71	@DISEASE$ is a progressive hereditary neurodegenerative disorder characterized by hyperkinetic movements, @PHENOTYPICFEATURE$, and acanthocytosis in the absence of any lipid abnormality.	has_symptom
+c5c21d973e65cfc48d3b84f583947e7fe5f052a1	[Early Diagnosis of @DISEASE$: Orofacial Dyskinesia, @PHENOTYPICFEATURE$, and HyperCKemia].	has_symptom
+0183efd852a44c5f5a939b72186bb6059ab3f41b	@DISEASE$ (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, @PHENOTYPICFEATURE$, cognitive changes, myopathy, and axonal neuropathy.	has_symptom
+50269629bcf01d26fcdd069d1be1404e1ed47f84	Neuropathological findings in @DISEASE$: new insights into mechanisms underlying parkinsonism and @PHENOTYPICFEATURE$.	has_symptom
+487b4a713624a84794e8b027c443fdefdea49596	@DISEASE$ is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, @PHENOTYPICFEATURE$ and dementia.	has_symptom
+2c49ae63327280a726ea18df4665459aed4ae8a4	@PHENOTYPICFEATURE$ as presenting and prominent symptom in @DISEASE$ with c.2343del VPS13A gene mutation.	has_symptom
+0e4c432a68984b813393cd955dbaf8abbf852520	@DISEASE$ is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, movement disorders, neuropathy, @PHENOTYPICFEATURE$, and acanthocytosis.	has_symptom
+125a27980bb4a870facd4eaefca6e5066f1b562a	@DISEASE$ is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, @PHENOTYPICFEATURE$, neuropathy, seizures, and acanthocytosis.	false
+a7d79bdeb552b4284b8dedac5694d7a95740615f	Chorea acanthocytosis is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, @PHENOTYPICFEATURE$, @DISEASE$, seizures, and acanthocytosis.	false
+4d67818c098b4e3417d3c8327371961c84f1701f	Chorea acanthocytosis is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, @PHENOTYPICFEATURE$, neuropathy, @DISEASE$, and acanthocytosis.	false
+34b23652bbd35b38691ad22e8eaa33a6ef67d198	A 46-year-old man who was diagnosed as @DISEASE$, a subgroup of neuroacanthocytosis, was investigated for severe drug resistant @PHENOTYPICFEATURE$.	has_symptom
+cfca96ce9b4651645d7206c3d76bbde4cd10c87a	The frequency, severity, and type of @PHENOTYPICFEATURE$ was characterized prospectively using pure-tone audiometry, tympanometry, stapedial reflexes, otoacoustic emissions, and brainstem-evoked response audiometry in adult patients on enzyme replacement therapy for genetically confirmed @DISEASE$.	has_symptom
+874422f8436cb9831584ab3d0b186cf09f4fb2b3	@DISEASE$ is characterized by the association of anorectal, radial ray and outer ear malformations and @PHENOTYPICFEATURE$.	has_symptom
+c10905cbc8a5707653974ba50490dac7731f19ad	@DISEASE$ (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), @PHENOTYPICFEATURE$, short stature, and increased cancer risk.	has_symptom
+585a8713d2dac8ae1528d9ee8da027975330a682	Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, @PHENOTYPICFEATURE$, and increased @DISEASE$ risk.	false
+2be7358b68404bdb1568d2039408367a9e6a90ff	Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), @DISEASE$, @PHENOTYPICFEATURE$, and increased cancer risk.	false
+bc750767f8d67aae5fe00d40257def0e0ae2a72d	Fanconi anemia (FA) is a rare inherited @DISEASE$ characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, @PHENOTYPICFEATURE$, and increased cancer risk.	false
+0e910e5d84adafee0b18cc499f986a2eb3fdf10a	@DISEASE$ (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, @PHENOTYPICFEATURE$, and increased cancer risk.	false
+18a55ac5ceaaeff2e39d38670aa0236982574e8c	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, @PHENOTYPICFEATURE$, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	has_symptom
+75177c4df24a4964d7fe3033c64283c50c6ca904	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as @PHENOTYPICFEATURE$, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+7a597b57db45025533b16da81f566aab10bed8b2	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, @PHENOTYPICFEATURE$, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+c302efcc7193c3acb12cd86535bb3e5e3708848f	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, @PHENOTYPICFEATURE$, skeletal abnormalities, @DISEASE$, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+5c70389dc4d5814e374bd8289d7e6d4b39dd27ed	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as @PHENOTYPICFEATURE$, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. @DISEASE$ leading to bone marrow failure occurs in the first decade.	false
+27af86d60700a8419bc1ba1056ac9783b2669632	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+57bc563dd057656a962eb20508bc945a81228274	@DISEASE$ is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, @PHENOTYPICFEATURE$, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+f6b6813744130c440c1116fe47782d17cf14a7b1	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, @PHENOTYPICFEATURE$, skeletal abnormalities, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. @DISEASE$ leading to bone marrow failure occurs in the first decade.	false
+730eb51c9df814b6a9eecc98d14d01b4eb40a40a	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as @PHENOTYPICFEATURE$, microcephaly, skeletal abnormalities, @DISEASE$, developmental delay and congenital heart, kidney anomalies etc. Pancytopenia leading to bone marrow failure occurs in the first decade.	false
+1b5a5ee5493130b4d26d96aca51f6217e44964c1	Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, @PHENOTYPICFEATURE$, abnormal skin pigmentations, developmental delay and congenital heart, kidney anomalies etc. @DISEASE$ leading to bone marrow failure occurs in the first decade.	false
+173c255b36b0e94244c40c223af1021d40ab1e5f	We report an unusual case of idiopathic thoracic SEL in a 69-year-old male, with an adjacent infiltrative @DISEASE$ and associated vertebral crush fracture, which resulted in @PHENOTYPICFEATURE$ and sensory loss.	has_symptom
+a6d8920873ccf21032ce6977c2225102b736ba9f	Patients with @DISEASE$ can develop paraneoplastic @PHENOTYPICFEATURE$ because of the generation of autoantibodies against mGluR1 (mGluR1-Abs).	has_symptom
+58d4183c8f6672fbca5d22804cb82a4865f663d5	One of 4 siblings affected by hereditary spinocerebellar @PHENOTYPICFEATURE$ (HSCA) of Marie's type developed @DISEASE$ (HD): the stage was IV B, the patient was submitted to conventional chemo- and radiotherapy and achieved complete remission.	has_symptom
+17b54d15274b34e0e2caad5af1266679afd13f30	The authors report an 70-year-old male with @DISEASE$ treated by chemotherapy then corticosteroids because of pulmonary fibrosis who was presenting for eight days ago, an @PHENOTYPICFEATURE$, pyramidal syndrome, and bradypsychy.	has_symptom
+62e0d35d1a7799b7f00589faa7919c15ab62299d	Paraneoplastic @PHENOTYPICFEATURE$, also known as paraneoplastic cerebellar degeneration, is one of the wide array of paraneoplastic neurological syndromes in which neurological symptoms are indirectly caused by an underlying malignancy, most commonly gynecological, breast, or lung cancer or @DISEASE$.	has_symptom
+7fa894020c0a541f0ae6279f5dc3d35d29ddc8a6	Paraneoplastic syndrome manifesting as chronic @PHENOTYPICFEATURE$ in a child with @DISEASE$.	has_symptom
+e7d47f71bbabc878f63d7dcb9efeb191f296ab3e	A 47-year-old man with a history of @DISEASE$ and thymic carcinoma presented with headache, nausea, and @PHENOTYPICFEATURE$.	has_symptom
+ace797bb11eeb04c046756cc484e2847459c4653	Paraneoplastic @PHENOTYPICFEATURE$ (PCA) is most frequently observed in gynaecological cancers, small cell lung cancer, breast cancer, @DISEASE$, cancer testis or malignant thymoma.	has_symptom
+0c4f3fa86479b33e96153b99e14483a9e868eb81	This retrospective analysis evaluated the therapy outcome of 38 children with @PHENOTYPICFEATURE$ teleangiectasia or Nijmegen-breakage syndrome with acute lymphoblastic leukaemia (ALL, n = 9), Non-Hodgkin lymphoma (NHL, n = 28) and @DISEASE$ (HL, n = 1).	has_symptom
+dce611f36601171ea03af373327d4a9a0f2e009e	Lastly, a recent study identified delta/notch-like epidermal growth factor-related receptor (DNER) as the target antigen of Tr antibodies, a marker of @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0512012e6ef11cfeafa2a20a0422b1d84948169a	@DISEASE$ is inherited in an autosomal-dominant manner and is characterized by increased birth weight, excessive growth, advanced bone age, and distinctive facial features, including dolichocephaly, @PHENOTYPICFEATURE$, and a prominent mandible.	has_symptom
+f50d4059c9387f714fe74927852a2f128fb26988	@DISEASE$: @PHENOTYPICFEATURE$, antimongoloid slant of eye, and high arched palate complex.	has_symptom
+00d3c2672083335a8913dd385886e27ae1bcd113	@DISEASE$ (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, @PHENOTYPICFEATURE$, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate.	has_symptom
+3f87d8b748067c8edc7c1b7a5fa4e9109bc6cb8c	Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, @PHENOTYPICFEATURE$ and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow @DISEASE$.	false
+8164f134ebaabd0b1081a3d38360dd61e21536f1	@DISEASE$ (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal @PHENOTYPICFEATURE$, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate.	false
+bb61bbdf8a1d2de01ee29df74a524f3de1b196bd	Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal @PHENOTYPICFEATURE$, macrocephaly and typical facial gestalt with frontal bossing, @DISEASE$, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate.	false
+5006cfa8ed6b1635ad68c4a57a99002dfbff585b	@DISEASE$ (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, @PHENOTYPICFEATURE$ and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate.	false
+2964dfbdd697ca84ce3c7e51da311807e2dfdb94	Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, @PHENOTYPICFEATURE$ and typical facial gestalt with frontal bossing, @DISEASE$, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate.	false
+ef28b53ec34d7574deceafa0cadb6d80768d38b4	Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal @PHENOTYPICFEATURE$, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow @DISEASE$.	false
+d2a411579983a4b99d9c19d0a6b8c3c3a8d9b90e	@DISEASE$ is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent @PHENOTYPICFEATURE$, downslanting palpebral fissures, and facial flushing.	has_symptom
+a2d15ad77117b109220b5d990b6364bc2029d4f5	@DISEASE$ is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal @PHENOTYPICFEATURE$, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing.	false
+1150feab2f7c34e7e16cc538f6c1f58efcf3de77	Sotos syndrome is a well-defined childhood overgrowth syndrome characterized by pre- and postnatal @PHENOTYPICFEATURE$, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent @DISEASE$, downslanting palpebral fissures, and facial flushing.	false
+f6726d79971f66dd303036d74c573d0543261907	@DISEASE$ is a well-defined childhood @PHENOTYPICFEATURE$ syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing.	false
+abe437347dbb27e25347654ddb6fcc43baed6f8c	Sotos syndrome is a well-defined childhood @PHENOTYPICFEATURE$ syndrome characterized by pre- and postnatal overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent @DISEASE$, downslanting palpebral fissures, and facial flushing.	false
+e462491b18402351124fcdc10de32b0ac7693daa	In this study, US and CT demonstrated equal sensitivity in the detection of @PHENOTYPICFEATURE$ in infants with @DISEASE$.	has_symptom
+5abc36c663e89e9f2368b3df541b6bf1e195ef0f	Four infants (67%) showed signs of @DISEASE$ in their first year of life; three (75%) had retinochoroidal scars, and one had @PHENOTYPICFEATURE$.	has_symptom
+5522d4562ab24c2414db02f891f090a24f492cca	One or more severe clinical manifestations of @DISEASE$ were reported in 84% of the infants and included eye disease (92.2%), @PHENOTYPICFEATURE$ (79.6%), and hydrocephalus (67.7%).	has_symptom
+1af0836f5c748ede2caf607d62d392b9ed2af454	One or more severe clinical manifestations of @DISEASE$ were reported in 84% of the infants and included eye disease (92.2%), brain calcifications (79.6%), and @PHENOTYPICFEATURE$ (67.7%).	false
+2e8e3ca8f8f7ac8879873facb38584ce06cd0d5e	One or more severe clinical manifestations of congenital toxoplasmosis were reported in 84% of the infants and included @DISEASE$ (92.2%), brain calcifications (79.6%), and @PHENOTYPICFEATURE$ (67.7%).	false
+6abdc64d1bcdb94194784a39a8eb1ee6c9e69e9b	One or more severe clinical manifestations of congenital toxoplasmosis were reported in 84% of the infants and included eye disease (92.2%), @DISEASE$ (79.6%), and @PHENOTYPICFEATURE$ (67.7%).	false
+0383bd5c609f9044e8a26dd1a34d0d43c2f26890	To evaluate the agreement between ultrasound (US) and computed tomography (CT) in detecting @PHENOTYPICFEATURE$ in infants with @DISEASE$.	has_symptom
+ce7552f8a1a8d01562676d011aae801b2e57accc	Our study reveals that severe clinical signs of @DISEASE$ including hydrocephalus, eye disease, or @PHENOTYPICFEATURE$ occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	has_symptom
+6b2803316abdee5d12e6065476e6609b38773e51	Our study reveals that severe clinical signs of congenital toxoplasmosis including @PHENOTYPICFEATURE$, @DISEASE$, or intracranial calcifications occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	false
+3dcef696ccb329e019cf971590a293195102fba9	Our study reveals that severe clinical signs of @DISEASE$ including @PHENOTYPICFEATURE$, eye disease, or intracranial calcifications occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	false
+6de6b9aa27b5af4ff569f3b8bff43b1548f9831a	Our study reveals that severe clinical signs of congenital toxoplasmosis including @PHENOTYPICFEATURE$, eye disease, or @DISEASE$ occurred in 85% infants whose sera were referred to our reference Toxoplasma Serology Laboratory during a period of 15 years.	false
+3409fc6701c2eb40c2c6004b02c0fa00200dbc4d	Individuals with @DISEASE$ suffer from many complications including nose and gastrointestinal bleeding, @PHENOTYPICFEATURE$, iron deficiency, stroke, abscess, and high-output heart failure.	has_symptom
+2e18451662bf7bfe6418789aaa6192bc4139a427	Zollinger-Ellison syndrome is a rare cause of tumoral @PHENOTYPICFEATURE$; 1 of 5 patients with this syndrome also has @DISEASE$.	has_symptom
+831cebe09c34f554b57481e2ea24b664b65bbd2f	Zollinger-Ellison syndrome is a rare cause of @PHENOTYPICFEATURE$ hypergastrinemia; 1 of 5 patients with this syndrome also has @DISEASE$.	false
+bbd1dbd29aebb5f3f2c20dd98a01e653b1937d05	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$ hypergastrinemia; 1 of 5 patients with this syndrome also has multiple endocrine neoplasia type 1.	false
+ba3b4a8d35612175ac732ffb251a09f616d4369c	Zollinger-Ellison syndrome is a rare cause of @PHENOTYPICFEATURE$ @DISEASE$; 1 of 5 patients with this syndrome also has multiple endocrine neoplasia type 1.	false
+76cd8d2e1831ba41f20776960056000cc41a9170	Impaired ATR signaling is also observed in cell lines from additional disorders characterized by microcephaly and growth delay, including non-ATR-SS, Nijmegen breakage syndrome, and MCPH1 (@DISEASE$, 1)-dependent primary @PHENOTYPICFEATURE$.	has_symptom
+abf848e5007806ac0182839a57df4b3da2265691	Impaired ATR signaling is also observed in cell lines from additional disorders characterized by @PHENOTYPICFEATURE$ and growth delay, including non-ATR-SS, Nijmegen breakage syndrome, and MCPH1 (@DISEASE$, 1)-dependent primary microcephaly.	has_symptom
+58a246120924b8a3adff74080017098c6c59e1fb	@DISEASE$ (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a @PHENOTYPICFEATURE$ at birth with no remarkable anomalies of brain architecture and variable degrees of intellectual impairment.	has_symptom
+0642f2cac3a009465ba695b33a8fbd50637ebd13	Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a @DISEASE$ at birth with no remarkable anomalies of brain architecture and variable degrees of @PHENOTYPICFEATURE$.	false
+606a0a53dfea206f7bd116bcba56e19df05e0955	@DISEASE$ (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture and variable degrees of @PHENOTYPICFEATURE$.	false
+22763386b9485b55dabd2c4157900c659d589b23	@DISEASE$ (MCPH) is a group of rare neurodevelopmental diseases with severe @PHENOTYPICFEATURE$ at birth.	has_symptom
+c451b2b9027faadbe803a9aaa624e515282de098	Autosomal recessive primary @PHENOTYPICFEATURE$ (MCPH), historically referred to as @DISEASE$, is a genetically and clinically heterogeneous disease.	has_symptom
+0fd576dba888c03d20751d07be2e4f838d2071f0	Homozygous mutations in the abnormal spindle-like, @PHENOTYPICFEATURE$-associated ASPM gene are the leading cause of @DISEASE$.	has_symptom
+c1ef1247cfed3734c29ca2842ffd9289a36ff2da	As part of a large study to detect the genetic basis of primary @PHENOTYPICFEATURE$ in Pakistan, homozygosity mapping and DNA sequencing was used to explore the genetic basis of @DISEASE$ in four families.	has_symptom
+d17689e1fce7ada8772f0f43e9a5ab25320311b9	Mutations in ASPM (abnormal spindle-like, @PHENOTYPICFEATURE$ associated) gene are the most common cause of @DISEASE$ in the majority of the reported families.	has_symptom
+b06bfec65ca56e78f99a6f70af4cd2046c48849b	@DISEASE$ (MCPH) is a rare neurodevelopmental disease with severe @PHENOTYPICFEATURE$ at birth due to a pronounced reduction in brain volume and intellectual disability.	has_symptom
+2c00294099c5cb2bdd1fe7ce8c8f2f4ca9d046ef	Considering that close to one third of individuals with @DISEASE$ with epileptiform abnormalities also had a history of clinical @PHENOTYPICFEATURE$, cortical hyperexcitability and epilepsy should be considered an important component of the Smith-Magenis syndrome clinical phenotype.	has_symptom
+9523027b4b94296774caffd852525011d4eb6fc1	Considering that close to one third of individuals with Smith-Magenis syndrome with epileptiform abnormalities also had a history of clinical @PHENOTYPICFEATURE$, cortical hyperexcitability and epilepsy should be considered an important component of the @DISEASE$ clinical phenotype.	has_symptom
+99efed96381e13f8b18f1f1da5f4099c32656144	Our objectives were to estimate the prevalence of @PHENOTYPICFEATURE$ and electroencephalographic (EEG) epileptiform abnormalities in patients with @DISEASE$ with defined chromosomal rearrangements and to describe the spectrum of abnormal EEG patterns.	has_symptom
+a0a7c3e040c90bae2b128c2d75c16cca1a1545b1	Herein, we report recurrent bouts of @PHENOTYPICFEATURE$ and oscillopsia in association with reversed spontaneous nystagmus in a patient with prior surgical resection of the cerebellar vermis due to @DISEASE$ and subsequent labyrinthine damage.	has_symptom
+8ef8f67363f0aa8e4ed37fc91d7a197be30a27e8	@PHENOTYPICFEATURE$ and mural thrombus in a 4-year-old girl due to @DISEASE$ described with serial cardiac magnetic resonance imaging.	has_symptom
+8026c7f9d8beba191cde069207a395ccf1002f65	@PHENOTYPICFEATURE$ and intracardiac thrombus occurring in @DISEASE$.	has_symptom
+3a2ed57775f5c60af550e448ee688a43da1a48b4	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @PHENOTYPICFEATURE$, mental retardation, hypotonia, and autism.	has_symptom
+9ea0ab67d87eb18647c348dc5d0ff0b2e6a30893	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @PHENOTYPICFEATURE$, hypotonia, and autism.	false
+468b89f2c524118e5c5da1d5a1b8393bf3d1b056	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and @PHENOTYPICFEATURE$.	false
+e63e00b59cef4a34d4b120ef9434be107aa8a462	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+5719bd84805415e561ebbef29a1f88851d0b119f	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and @PHENOTYPICFEATURE$.	false
+3c7af7e4688c127586ccca7f8eaca98e6d852b24	Timothy syndrome patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @DISEASE$, mental retardation, hypotonia, and autism.	false
+9537fc0f1f169b5c2426d61f8c44b8550c816d4c	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @DISEASE$, mental retardation, hypotonia, and autism.	false
+21b670ad1b1ca966226b8409f72b004677a85d63	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+68107a085b9c2011d69bd4a38d3ae3d282118d0c	@DISEASE$ patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+da603d51be9a05f5dbe5e66433578bad5791b6a2	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @DISEASE$, mental retardation, hypotonia, and @PHENOTYPICFEATURE$.	false
+c866cca1a6f428434c6135a44ddedc68e0afa705	Timothy syndrome patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+ff0d11fdcdd623904e68b2f3f9d2b76feb2ef74a	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, @PHENOTYPICFEATURE$, hypotonia, and autism.	false
+473e6a4fe04d18326dd83a82d8711fab79f94f20	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, and autism.	false
+bcbdf1517678a50f598f4597fef3f2760d2ab65f	@DISEASE$ (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, syndactyly, @PHENOTYPICFEATURE$, developmental delay, and autism.	has_symptom
+d5f805737381ddd4928d50fcf88306065134239f	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, syndactyly, @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+7c8ee03a70bab274bc06a76513beb3d8c735a6f0	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic @DISEASE$ features, syndactyly, seizures, developmental delay, and @PHENOTYPICFEATURE$.	false
+a8418a0ce0f4415f7590ec461c8d5136af846b03	Timothy syndrome (TS) is a rare genetic condition that associates @DISEASE$, structural heart defects, dysmorphic facial features, @PHENOTYPICFEATURE$, seizures, developmental delay, and autism.	false
+7ddc41d1550c7076126e6763635f1a3d28232546	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, seizures, developmental delay, and autism.	false
+45067484a3bca530a6e92203e6c2d2abe0797452	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural @PHENOTYPICFEATURE$, dysmorphic facial features, syndactyly, @DISEASE$, developmental delay, and autism.	false
+1b010b7124d7ccfeae45ac24c2a88811089da9ec	Timothy syndrome (TS) is a rare genetic condition that associates @DISEASE$, structural heart defects, dysmorphic facial features, syndactyly, seizures, developmental delay, and @PHENOTYPICFEATURE$.	false
+ef69cf80030375ad242675cbac04b4da9d576625	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, and autism.	false
+804ee3a12540f3224ef21e4bce4c15fac8dda1bf	@DISEASE$ (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, @PHENOTYPICFEATURE$, seizures, developmental delay, and autism.	false
+5715cc2e826d993803171f057d491d66dddb15e5	@DISEASE$ (TS) is a rare genetic condition that associates long QT syndrome, structural @PHENOTYPICFEATURE$, dysmorphic facial features, syndactyly, seizures, developmental delay, and autism.	false
+2b575a112c20e75cbff2576611adf5d080d7ac0a	@DISEASE$ (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, syndactyly, seizures, developmental delay, and @PHENOTYPICFEATURE$.	false
+211b6afbf140c605ff484afddfc33b821540167b	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural @PHENOTYPICFEATURE$, dysmorphic @DISEASE$ features, syndactyly, seizures, developmental delay, and autism.	false
+e8f8656d0e568cc3bf55a8487b1384e0dcfc41bf	Timothy syndrome (TS) is a rare genetic condition that associates @DISEASE$, structural @PHENOTYPICFEATURE$, dysmorphic facial features, syndactyly, seizures, developmental delay, and autism.	false
+d35f376481bf8682894f767a17660aefa24952e8	@DISEASE$ (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, @PHENOTYPICFEATURE$, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	has_symptom
+e494a91d61d275a1447bcedcdefc2951415c0935	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @PHENOTYPICFEATURE$, seizures, behavioural abnormalities, @DISEASE$, and hypoglycaemia.	false
+cef05904bae6f9a4fe64480d4a764afd08813f74	@DISEASE$ (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @PHENOTYPICFEATURE$, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	false
+742a6c7d137096725e77d64ea7de2d377e57d23d	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @PHENOTYPICFEATURE$, @DISEASE$, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	false
+9d79135e80b69f9186c75dd99e7ff764c1a0a4ac	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @PHENOTYPICFEATURE$, seizures, behavioural abnormalities, immunodeficiency, and @DISEASE$.	false
+638ca26c2bf5e74a33445cf32d5d715ae4573e92	Timothy syndrome (TS) is an extremely rare @DISEASE$ characterized by marked QT prolongation, @PHENOTYPICFEATURE$, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia.	false
+8f80bfbfae7a0556495f10ea8913ee80b587c01d	Our data suggest that @PHENOTYPICFEATURE$ does not pose additional risks to laminectomy in individuals with @DISEASE$.	has_symptom
+edc38511f4910ef2fc6ae9eb1ae80e6727e2e332	Early postnatal soluble FGFR3 therapy prevents the atypical development of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+bfc27df8744924dd1724dece5660bf8df5955c80	This study demonstrate that @DISEASE$ patients develop an atypical @PHENOTYPICFEATURE$ with preferential abdominal obesity not associated with classical complications.	has_symptom
+28bf32e11edc01d2196b53643facef5ab1002fd4	@DISEASE$ is a rare genetic disease is characterized by abnormal bone development and early @PHENOTYPICFEATURE$.	has_symptom
+52cb7b3e729d5f134cc04a348c5fe24ade9f2c9b	The patient has the features of both the @DISEASE$ and the chromosome 9p-syndrome, including trigonocephaly, long philtrum, @PHENOTYPICFEATURE$, and retro-/micronagthia.	has_symptom
+0ce05678cb1c907ce50ec70752d2e768f8ca03b4	@DISEASE$ is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with @PHENOTYPICFEATURE$, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia.	has_symptom
+88f1654720e2599dcc731d4dc707d7a5a0e6db12	Kleefstra syndrome is a rare @DISEASE$, with core phenotypic features encompassing developmental delay/@PHENOTYPICFEATURE$, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia.	false
+d616b430cd3e009f9fb387ab97efdcb48d37f2c6	Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/@PHENOTYPICFEATURE$, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with @DISEASE$, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia.	false
+022b937ea4c63ac34aa2f4ea45f8e4f8679e176d	Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/@PHENOTYPICFEATURE$, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with @DISEASE$ - and childhood hypotonia.	false
+9add145918b4e72a4ba4256fec8a3acb6c099222	@DISEASE$ is a rare genetic disorder, with core phenotypic features encompassing developmental delay/@PHENOTYPICFEATURE$, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmouth with macroglossia - and childhood hypotonia.	false
+fe8d3757f1a25d7ba38d171215d174bece299289	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @PHENOTYPICFEATURE$, abdominal pain and hypoalbuminemia.	has_symptom
+4d785ec03b45e0e2aad880c2ddc569c52acc25c4	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, abdominal pain and @PHENOTYPICFEATURE$.	false
+9c9781dc881620da9790fb0edf1dde2520260c85	We describe a case of @DISEASE$ with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, weight loss, @PHENOTYPICFEATURE$ and hypoalbuminemia.	false
+278a7d621173490b2e32547dc9d8c63b8c60758a	We describe a case of hypertrophic gastropathy with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @DISEASE$, @PHENOTYPICFEATURE$ and hypoalbuminemia.	false
+05c9e116ebb51cc0caa0fd945d10274cecc96fc3	We describe a case of hypertrophic gastropathy with important protein-loss, admitted to our Pediatric Department for evaluation because of vomit, @DISEASE$, abdominal pain and @PHENOTYPICFEATURE$.	false
+077839838a35c32b2d3225440475b93c64405105	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @PHENOTYPICFEATURE$, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, abdominal pain, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or @DISEASE$ associated with nodose polyarteritis.	has_symptom
+b1b6cd9f604ee471099035c4fc9f8d51f634b08c	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, weight loss, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, @PHENOTYPICFEATURE$, anemia, @DISEASE$, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+5b01fb1c57fce0f56752fb314536e6ee6e315664	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, weight loss, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, @PHENOTYPICFEATURE$, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or @DISEASE$ associated with nodose polyarteritis.	false
+1d14b36e1718437572f57689a5977bbb49880cd4	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, weight loss, prolonged febrile @DISEASE$, myalgias, peripheral polyneuropathy, @PHENOTYPICFEATURE$, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+40f6bda3e3a57f3c330fc7f1d3dc66a3934727c3	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, @DISEASE$, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, @PHENOTYPICFEATURE$, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+0d03229d7da12b6b571ab9fc8f493ec38c3c3426	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, weight loss, prolonged febrile syndrome, myalgias, peripheral polyneuropathy, @PHENOTYPICFEATURE$, @DISEASE$, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+e20de8935ba046eb684eefbec0e37d6039d6823f	Case presentation of a 61 year old male who presented with a 3 months' history of anorexia, weight loss, prolonged febrile syndrome, myalgias, peripheral @DISEASE$, @PHENOTYPICFEATURE$, anemia, renal insufficiency, sonographically detected splenomegaly, elevated alkaline phosphatase, hypoproteinemia, sudden drops of the hematocrit, gastric ulcer with negative biopsies for malignancy and where the histological study of the surgical specimen confirmed the diagnosis of M?n?trier's disease or hypertrophic gastritis associated with nodose polyarteritis.	false
+3e773ce4b487b36a43248fdd1b13f42e056ac113	The @DISEASE$ (OS) is a congenital malformation disorder characterized by @PHENOTYPICFEATURE$, swallowing difficulties, hypospadias, and additional midline malformations.	has_symptom
+557b582d5283c4ef7003c7c608fc4b8c50018466	The X-linked Opitz G/BBB syndrome (OS) is a @DISEASE$ disorder characterized by hypertelorism, @PHENOTYPICFEATURE$, hypospadias, and additional midline malformations.	false
+0b29394f79ef1ebd1118769570f23484dc4b59b7	The X-linked Opitz G/BBB syndrome (OS) is a congenital malformation disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, hypospadias, and additional midline malformations.	false
+897d0a2b2ae1cb714f41d2a32d7e7f9650a48a36	The @DISEASE$ (OS) is a congenital malformation disorder characterized by hypertelorism, @PHENOTYPICFEATURE$, hypospadias, and additional midline malformations.	false
+240f9b17939f966d3a3d29dfdb36cd09847ab3c1	By reviewing all the MID1-mutated OS patients so far described, we confirmed that @PHENOTYPICFEATURE$ and hypospadias are the most frequent manifestations, being present in almost every @DISEASE$ individual.	has_symptom
+3716a60ac910f9228d24f77754fbb59a52ac21c2	Mutations in the MID1 gene result in @DISEASE$ (OS), a disorder that affects development of midline structures and comprises @PHENOTYPICFEATURE$, cleft lip/palate, hypospadias, and laryngo-tracheo-esophageal abnormalities, and, at times, neurological, anal, and cardiac defects.	has_symptom
+e1db004104871692bf59a76f396b4dd164491e2b	The mild phenotype of the patient with the microduplication suggests that MID1 mutations can be found in patients with @PHENOTYPICFEATURE$ with or without other clinical signs and MID1 alterations might be missed in individuals not fulfilling the minimal criteria for diagnosis of @DISEASE$.	has_symptom
+845a64f5dbad4b3b0f3c1c7a4417715573c85198	However, the frequency of the rs17576 G allele was significantly higher in @DISEASE$ patients with severe CNS diseases such as meningo-encephalitis (43.5%) when compared with TBE patients with milder @PHENOTYPICFEATURE$ (26.3%;	has_symptom
+c9041e9e2910f47d68bfb5ffa8a59541c937786f	However, the frequency of the rs17576 G allele was significantly higher in TBE patients with severe CNS diseases such as meningo-encephalitis (43.5%) when compared with @DISEASE$ patients with milder @PHENOTYPICFEATURE$ (26.3%;	has_symptom
+15ebef5d5f2699d501eeb6c1ec89d4595f2999d3	"Any" maternal alcohol diagnosis demonstrated a higher attributable fraction for @DISEASE$ (1.53%), with the highest attributable fractions for microcephaly (7.31%), @PHENOTYPICFEATURE$ (3.75%), atrial septal defect (2.86%), and conotruncal heart defects (2.01%).	has_symptom
+bc9c04ec2c86aadd2d94c7cbe1498bced6bf570e	"Any" maternal alcohol diagnosis demonstrated a higher attributable fraction for ARBD (1.53%), with the highest attributable fractions for @PHENOTYPICFEATURE$ (7.31%), @DISEASE$ (3.75%), atrial septal defect (2.86%), and conotruncal heart defects (2.01%).	false
+105dbc6301bc74957989ee1579d610a6ebb57871	"Any" maternal alcohol diagnosis demonstrated a higher attributable fraction for @DISEASE$ (1.53%), with the highest attributable fractions for microcephaly (7.31%), ptosis (3.75%), atrial septal defect (2.86%), and @PHENOTYPICFEATURE$ (2.01%).	false
+b0305ce6d9be6420e8073f9ead9f6ca7477227d1	"Any" maternal alcohol diagnosis demonstrated a higher attributable fraction for @DISEASE$ (1.53%), with the highest attributable fractions for @PHENOTYPICFEATURE$ (7.31%), ptosis (3.75%), atrial septal defect (2.86%), and conotruncal heart defects (2.01%).	false
+53c5dc65860004bfeb9d0731388c0bc923741ab6	"Any" maternal alcohol diagnosis demonstrated a higher attributable fraction for ARBD (1.53%), with the highest attributable fractions for microcephaly (7.31%), @DISEASE$ (3.75%), atrial septal defect (2.86%), and @PHENOTYPICFEATURE$ (2.01%).	false
+5e2a73c03c91be72554ba6d782a53a87d5fee4c3	A 54-year-old lady being investigated at the medical clinic for back pain and @PHENOTYPICFEATURE$, was diagnosed with @DISEASE$ on the basis of CT imaging, biopsy findings and absence of known secondary causes.	has_symptom
+abb707d3b2e2ba1b6b0c23e2c99c0772d72a5556	We describe a new additional family with this rare disorder; @DISEASE$ (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, hearing defect, and @PHENOTYPICFEATURE$.	has_symptom
+9758f6b32f67eba89a10e2739708b4b558138704	We describe a new additional family with this rare disorder; @DISEASE$ (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, @PHENOTYPICFEATURE$, and hypotrichosis.	false
+30ccbc33f5a9eb1bfd6eedab37992cc1c8b8efe0	We describe a new additional family with this rare disorder; Johnson-McMillin syndrome (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+63cfe5429ca6c7fe8ee37dcd7e72dde936847280	K-means clustering using the 25 patients with complete datasets suggested that patients with @DISEASE$ can be classified into 2 groups based on clinical variables, namely @PHENOTYPICFEATURE$, objective bulbar signs, and urinary urgency.	has_symptom
+1654d7d33cfd2185a44565c1bbe68c75d2366b1f	Genes coregulated with both FANCA and BRCA1 were enriched for MeSH-Term id(s) genomic instability, @PHENOTYPICFEATURE$, and @DISEASE$, and enriched for the cellular component centrosome.	has_symptom
+8e223c405be409c2f8d0468358ffe499b66e4714	Children with @DISEASE$ are characterized by short stature, @PHENOTYPICFEATURE$, special faces, feeding difficulties, and immunodeficiency.	has_symptom
+527d4a2833e1d585ed12a5de741a4033818c4610	Children with Bloom syndrome are characterized by @PHENOTYPICFEATURE$, microcephaly, special faces, feeding difficulties, and @DISEASE$.	false
+7693485362c721d63410e83c2d668dcc8235194a	Children with Bloom syndrome are characterized by @PHENOTYPICFEATURE$, @DISEASE$, special faces, feeding difficulties, and immunodeficiency.	false
+b79c36603856c9e31f63f76a6322df3ed53b0d96	Children with @DISEASE$ are characterized by @PHENOTYPICFEATURE$, microcephaly, special faces, feeding difficulties, and immunodeficiency.	false
+3216bc89c30fb051d2de37411ad9432fa795a1f2	Among those, @DISEASE$ (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked @PHENOTYPICFEATURE$ and dysphagia.	has_symptom
+c64b0a58748517f3b1176e7145a536ffb850ca63	Among those, @DISEASE$ (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked dysarthria and @PHENOTYPICFEATURE$.	false
+eb4c548aaee18dbb521db23e5974d034170f952b	Among those, chorea-acanthocytosis (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked @DISEASE$ and @PHENOTYPICFEATURE$.	false
+435cb519e9563aebfaad42b97e4e8a9c9ae81884	We also report the first molecular analysis of @DISEASE$ tumours showing loss of heterozygosity of the MSSE region, with loss of the normal allele, providing the first evidence that MSSE is a @PHENOTYPICFEATURE$ suppressor gene.	has_symptom
+ac605e219bfd061838811853ffbdf462e8592d64	We also report the first molecular analysis of @DISEASE$ @PHENOTYPICFEATURE$ showing loss of heterozygosity of the MSSE region, with loss of the normal allele, providing the first evidence that MSSE is a tumour suppressor gene.	has_symptom
+fef6eb69272509f63b3b546f0d4da06dbad81f31	Multiple self-healing squamous epithelioma - @DISEASE$ (MSSE) is an autosomal dominant inherited disease with multiple, recurrent, histologically malignant @PHENOTYPICFEATURE$ that undergo spontaneous regression.	has_symptom
+37d6466637187ac70b5cc7e1a7a6e12343938b42	@DISEASE$ - Ferguson-Smith disease (MSSE) is an autosomal dominant inherited disease with multiple, recurrent, histologically malignant @PHENOTYPICFEATURE$ that undergo spontaneous regression.	has_symptom
+d5ab913d2285745b0c9797a95242bb845618ceec	In one family @DISEASE$ co-segregated with @PHENOTYPICFEATURE$.	has_symptom
+26c57e443bf0d745f0e4a98cee8b1f91b5b8ea79	Mutations in alpha(1A) cause cerebral disorders including @DISEASE$ (FHM) and @PHENOTYPICFEATURE$ in humans.	has_symptom
+b66f2dadc78dec666cd83180b3fb94fbfd6d2f41	Mutations in alpha(1A) cause cerebral disorders including familial hemiplegic migraine (@DISEASE$) and @PHENOTYPICFEATURE$ in humans.	has_symptom
+98f577c82d43c0a3c610cc484e6ca5f690a70913	Childhood epilepsy, @DISEASE$, @PHENOTYPICFEATURE$, and a new CACNA1A mutation.	has_symptom
+8fffd80221a32f5bbec97c016a683dd8e81bee86	Our case was very similar to familial hemiplegic migraine (@DISEASE$) 1, of which some families are accompanied with transient amnesia, @PHENOTYPICFEATURE$ and EEG abnormality.	has_symptom
+5b2e55a4494a2168aa4e6090c179fe0b4b2a7a12	Our case was very similar to @DISEASE$ (FHM) 1, of which some families are accompanied with transient amnesia, @PHENOTYPICFEATURE$ and EEG abnormality.	has_symptom
+40bac8ed23a65900edd1cd6ecf73fe081c419ff7	@DISEASE$ with @PHENOTYPICFEATURE$ and paroxysmal psychosis.	has_symptom
+e501cdb3c140e91449dd46df9b70b411555dd596	episodic ataxia type 2 (EA-2), familial hemiplegic migraine (@DISEASE$) and spinocerebellar @PHENOTYPICFEATURE$ 6 (SCA6).	has_symptom
+f7b5ab1e379dba54621e300d3a243c3fac4010f7	episodic ataxia type 2 (EA-2), @DISEASE$ (FHM) and spinocerebellar @PHENOTYPICFEATURE$ 6 (SCA6).	has_symptom
+320031243e006809a9b89ff818cea6cf4b76c976	We failed to find expansions of the intragenic CAG repeat in @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+1929aab27544b1b384b008dffa15cba079403c70	@DISEASE$ is characterized by recurrent migraine, hemiparesis, and @PHENOTYPICFEATURE$.	has_symptom
+92fb72ab00ff91309f2ce2c0eb4142bf515c296d	The association of @DISEASE$ and @PHENOTYPICFEATURE$ has been reported in a small number of FHM families, all linked to chromosome 19.	has_symptom
+71498517a25a29754e4cd2df3d7b9763815ae479	The association of FHM and @PHENOTYPICFEATURE$ has been reported in a small number of @DISEASE$ families, all linked to chromosome 19.	has_symptom
+ebd08241fbe9adfbd120e70cc851c4fc10ab74cd	Some patients have ataxia combined with episodic headaches or nausea, suggesting an overlap among SCA6, eposidic @PHENOTYPICFEATURE$ type 2, and @DISEASE$.	has_symptom
+ca0936606b6cfa99903c3cb01589cc5e22539ac5	Some patients have @PHENOTYPICFEATURE$ combined with episodic headaches or nausea, suggesting an overlap among SCA6, eposidic ataxia type 2, and @DISEASE$.	has_symptom
+ba295500860316da076ee1c733fcd46c1c6fbc40	Infantile @PHENOTYPICFEATURE$ also were in a family with @DISEASE$ and mutations in the ATP1A2 gene.	has_symptom
+5c324b16434a3c46be9b8da1d14e4f2fca8333b0	@DISEASE$ is occasionally associated with other neurologic symptoms such as cerebellar ataxia or @PHENOTYPICFEATURE$.	has_symptom
+291bf68f01abfee968c8eb1c7649450b4a9d6b72	@DISEASE$ is occasionally associated with other neurologic symptoms such as @PHENOTYPICFEATURE$ or epileptic seizures.	false
+21779daee59e01156ee8ea6b97350d97fc23dcce	FHM is occasionally associated with other neurologic symptoms such as @PHENOTYPICFEATURE$ or @DISEASE$.	false
+e8ad3df9b4f4732aad381a3df11917fe63a123d9	This association of @DISEASE$ and @PHENOTYPICFEATURE$ and their control with the same treatment suggest similar pathophysiological mechanisms.	has_symptom
+31fbcca0b4b440749fc0703305b3c0d6eeb64ee2	Novel mutation confirms @PHENOTYPICFEATURE$ locus SCN1A is also @DISEASE$ locus FHM3.	has_symptom
+b7e4060e7870192511de8f77f0bf87096835998c	Sodium valproate enabled control of both the @PHENOTYPICFEATURE$ and the most severe @DISEASE$ attacks.	has_symptom
+0d3aa61a76e045e7bd5565fbcc56db1850ecf20c	Within several @DISEASE$ families, some patients also had @PHENOTYPICFEATURE$.	has_symptom
+44cadd130fdea69db50f4baa154ba9964d2df426	Severe attacks may occur in @DISEASE$ as well as in SHM with prolonged hemiplegia, confusion, coma, fever and @PHENOTYPICFEATURE$.	has_symptom
+0da766ecffb0667b8bab123f6ab4e0218ecee560	Severe attacks may occur in FHM as well as in SHM with prolonged hemiplegia, confusion, coma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6637aeeb59d9f3137c08657068040af9addfb18c	Severe attacks may occur in @DISEASE$ as well as in SHM with prolonged hemiplegia, confusion, coma, @PHENOTYPICFEATURE$ and seizures.	false
+4b7e680edb702dc4b9a0a03ac2cba9713f613e45	We suggest that patients with @PHENOTYPICFEATURE$, ataxia, and hemiplegic migraine be genetically tested for @DISEASE$.	has_symptom
+25896de37a5f0ca25da68691c67c3906a2fbfc76	We suggest that patients with seizures, @PHENOTYPICFEATURE$, and hemiplegic migraine be genetically tested for @DISEASE$.	false
+d6d9c99e37bf3daaf7f06f1a4b6fad92ccc508a0	We suggest that patients with @DISEASE$, @PHENOTYPICFEATURE$, and hemiplegic migraine be genetically tested for FHM.	false
+e52e2cb9d06fd0df0e76176894b85994e1f8972c	@DISEASE$ can be associated with other neurological findings including coma and @PHENOTYPICFEATURE$.	has_symptom
+83e8cfb5425bc55aab55da67fac45e0856bd08c2	Electroencephalographic changes and @PHENOTYPICFEATURE$ in @DISEASE$ patients with the CACNA1A gene S218L mutation.	has_symptom
+47e3eb78e93afbf85139ab8995a68849f7b9c612	We report a case of @DISEASE$ in a 2-year-old boy who presented with exotropia and @PHENOTYPICFEATURE$ since birth.	has_symptom
+67b79aa8f15c57d9b3530617333e75f9117596cf	However, cases of ARVD have also presented as @DISEASE$ later associated with @PHENOTYPICFEATURE$.	has_symptom
+9c38971c86fa1319b2d29d7bd99ab307393949b7	have recently been linked to an inherited form of @DISEASE$ with atrial and @PHENOTYPICFEATURE$.	has_symptom
+62c83df70f7c2db7999810c4a5f622115f60b0f9	Usefulness of signal-averaged electrocardiogram in idiopathic @DISEASE$ for identifying patients with @PHENOTYPICFEATURE$.	has_symptom
+393dce12c4560c4a2c972f84c7df42bff27ce4d2	relaxation time in patients with nonischemic @DISEASE$ with complex @PHENOTYPICFEATURE$.	has_symptom
+a5361055c24e93c4377c0dcc2da9dba44f23a774	@PHENOTYPICFEATURE$ was more prevalent in @DISEASE$ patients (85.7%).	has_symptom
+918c3a45b160829ef522dc35c47f5a65cb3dc237	Clinical disease often includes heart block, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d4976e9e9564ce181b17fd97b81d014e8703a3f1	D117N in Cypher/ZASP may not be a causative mutation for @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+39f52665985c51d1323f7c10621927e4e0889634	[Prognostic significance of @PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+5a0d81a8d90bf05694910387892e635e46fb82ea	[Significance of @PHENOTYPICFEATURE$ in idiopathic @DISEASE$].	has_symptom
+5787f8f46f5a965bbb8c0f82fe227893638e746b	Repolarization abnormalities detected by magnetocardiography in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+032e41283bdae7aec38eb77e63c189de07b38954	Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, deafness, @PHENOTYPICFEATURE$, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of @DISEASE$.	has_symptom
+43401e0415ce589b0a38c539be381e22106991df	Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, @PHENOTYPICFEATURE$, encephalopathy, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of @DISEASE$.	false
+46ce7980a9e4ba5f98191b951d2816e2c7e18013	Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, @PHENOTYPICFEATURE$, encephalopathy, leigh-like lesions on brain imaging, progressive spasticity and @DISEASE$ defined as a distinct entity under the name of MEGDEL syndrome.	false
+71a4f879d087fcf963c4f035755d1619ff29e3ca	Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, @PHENOTYPICFEATURE$, @DISEASE$, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of MEGDEL syndrome.	false
+3923728b3c1455625dff1a3308d98a1c9e3d4fbe	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the @DISEASE$ including 3-MGCA, sensorineural deafness, @PHENOTYPICFEATURE$ and a brain magnetic resonance imaging with signs of Leigh disease.	has_symptom
+9d7bc5d72a808b189bea853696802cb82291872d	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the @DISEASE$ including 3-MGCA, @PHENOTYPICFEATURE$, encephalopathy and a brain magnetic resonance imaging with signs of Leigh disease.	false
+12f22bb07afbda39d4210e7d62e927e4d9eca11a	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, @PHENOTYPICFEATURE$, @DISEASE$ and a brain magnetic resonance imaging with signs of Leigh disease.	false
+fbd6abaa3b6e17889162e7de041f8759c246b5d5	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial hepatic disorder consistent with the MEGDEL syndrome including 3-MGCA, @PHENOTYPICFEATURE$, encephalopathy and a brain magnetic resonance imaging with signs of @DISEASE$.	false
+35ac3a4c516bd8f9784394348100259a32d9ec95	We studied four patients who presented at birth with a clinical picture simulating a primary mitochondrial @DISEASE$ consistent with the MEGDEL syndrome including 3-MGCA, @PHENOTYPICFEATURE$, encephalopathy and a brain magnetic resonance imaging with signs of Leigh disease.	false
+3f9d72971ee071d7af3af2809723fc20c5a9d0d4	Infantile mitochondrial hepatopathy is a cardinal feature of @DISEASE$ (3-methylglutaconic aciduria type IV with sensorineural deafness, @PHENOTYPICFEATURE$ and Leigh-like syndrome) caused by novel mutations in SERAC1.	has_symptom
+fd7837d996896fe2a770f35b67da90c3d64f1a9a	Infantile mitochondrial hepatopathy is a cardinal feature of @DISEASE$ (3-methylglutaconic aciduria type IV with @PHENOTYPICFEATURE$, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.	false
+7a4ef0de88ead3c71d75cfe1e3b399a94d0617e3	Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with @PHENOTYPICFEATURE$, @DISEASE$ and Leigh-like syndrome) caused by novel mutations in SERAC1.	false
+5a06244edfc872543ee3cf12ba48af09b29d574a	Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with @PHENOTYPICFEATURE$, encephalopathy and Leigh-like @DISEASE$) caused by novel mutations in SERAC1.	false
+b90d82d41af3217038c93b2ecc089765c560dcef	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	has_symptom
+f0b19d158e8ea7ff86ebc69ecfd53c1819243706	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, @DISEASE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+3196e80188ed2156c527d14ce19fb906eb790fb7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+2fa532633e2fb0dd04b9e64a23af67374d4f9258	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @DISEASE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	false
+cc043c6cf9cf5757a56413c38005482117a38e7d	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @DISEASE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, microcephaly, and myoclonic epilepsy.	false
+1cc662efbd6b93607d6c1db5595fed91a34428c7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	false
+a585aad77f76a252ef86a785678f95e0f01d73d4	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @DISEASE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+5449a10eb7197005b664564eed1c7dbbaaaeae16	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, microcephaly, and myoclonic epilepsy.	false
+4f027a6b14abef10096c03f07f941552dfa28c24	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+05a5f32f55254002eab3a595a3e4492e733cf3ce	Other serious adverse events were observed in six cases (26%): one haemolytic-uraemic syndrome, one severe @DISEASE$, one acute heart failure related to @PHENOTYPICFEATURE$, two bullous and erosive dermatitis, and one recurrent influenza-like syndrome with altered general condition.	has_symptom
+ce076d9b32a550819a8b4d649cac482c579f665b	Toxic effects observed are systemic (fever, chills, malaise), hemodynamic (@DISEASE$, hypotension), cardiac (@PHENOTYPICFEATURE$, infarction), renal (renal dysfunction), infectious (septicemia), cutaneous, hematologic, gastrointestinal, endocrinologic and metabolic.	has_symptom
+c3d07d27075262ff88dd7ec00d251f79df645af1	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, @PHENOTYPICFEATURE$, and cataracts.	has_symptom
+ccf81a659134636c44bbb3871a52b79d02f9db86	Children with MVA syndrome die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, @DISEASE$, and cataracts.	false
+352a67ac4df60af136df65f98133c5265fc0d6b8	Children with MVA syndrome die at an early age, are @DISEASE$ prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+ea06fff59fa01ab136c93dcdbf3bbe1e6cbe5116	Children with MVA syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+bd0747844bfe616e86bfc1319533d76d8d550bfd	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, short stature, and @PHENOTYPICFEATURE$.	false
+26f5a903e282174a5ab9b041e9273cd9f8b74a39	Children with MVA @DISEASE$ die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+be0c4477ee237a6b5a931c8f295f4533ceb24342	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+5124c98629400c81cf0613ca08908c8168f5da9c	Children with MVA @DISEASE$ die at an early age, are cancer prone, and have progeroid features like facial dysmorphisms, short stature, and @PHENOTYPICFEATURE$.	false
+fbb149a3e38ecd54fcd4c297e2ab922c9635df61	Children with MVA syndrome die at an early age, are @DISEASE$ prone, and have progeroid features like facial dysmorphisms, short stature, and @PHENOTYPICFEATURE$.	false
+827417a347970d2210b44fdbcfc3b06e74621442	The potential model predictors were: contraceptive prevalence rate (CPR); utilizations of antenatal care (ANC), health institution delivery (@DISEASE$), Caesarian section (CS) and postnatal care (PNC); and prevalence of maternal anemia, thinness (Body Mass Index (BMI < 18.5 kg/m2), @PHENOTYPICFEATURE$ (height less than 145 cms) and HIV.	has_symptom
+e2c49b8b16b9aa3ebfd862fc9eb081e9d5889691	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, @DISEASE$ and Martsolf syndrome).	has_symptom
+4cae80ebaea9adb83aa6f9a53b37e28f19b58ff4	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, @DISEASE$ and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	has_symptom
+17a31af27c8bc78dca2c709417003b5992121849	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and @DISEASE$) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+6c113df6dab5718af64eba72df178bfca49a8eb0	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and @DISEASE$), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+70751b0ab56054fce8af202522422f5dee602764	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (@DISEASE$, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+83fbdf6da5723bcdb94c46c216e4165c9290d545	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, @DISEASE$ and Martsolf syndrome).	false
+e34dd16bc2c4d20e070c8539321d17b6b4d444cb	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (@DISEASE$), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+1567443427267859d717a5af5a6e9fb12f0ef475	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and @DISEASE$).	false
+a6a174045fdcea9a92353752f6cc7a32b1dcbfb3	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific @DISEASE$, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+d257f4b649ea36dc06b1d07484c6ac73f1d18268	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (@DISEASE$ and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+d7abb58dadbdf073cb2fda9ee58bf928456961d1	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, @DISEASE$, Warburg Micro syndrome and Martsolf syndrome).	false
+adf2aa1a3243f0218da59190e16d9926f7e4441a	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, @DISEASE$ and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+75f96ffc549f005410c9b5ba7e16c4c8206714df	@DISEASE$ is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	has_symptom
+c1509c46242880d26e69f3864334910d9e8a578c	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+2d6af3173a44bfc54e466ee63064fba2c6da5b86	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+0de8e31494f2a2f471de6d9021eb556068cb73b8	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+2b74fbc2701642255248a11a47705468a77e980b	Micro syndrome is an autosomal recessive disorder characterized by severe @DISEASE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+6c343a4ee1c2b8104f5d3f41a4dc3d1e92368442	Micro syndrome is an autosomal recessive disorder characterized by severe @DISEASE$, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+752080650d4baf5327b862f69a8001ff2920cfa0	Micro syndrome is an autosomal recessive disorder characterized by severe @DISEASE$, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+825a9ae97949212d72819e43e7d056c6fb04c720	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+16610b10184de422c5ec5d714c9edd94a9818465	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital @DISEASE$, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+59c6568e3bee83cb34b9d566287994b8f87e0b70	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+388e8dc8a5a71e5fce8ca76d39e30aae6e3a373b	The neurodevelopmental and ophthalmological phenotype is more severe in @DISEASE$ in which cerebral malformations and severe motor and @PHENOTYPICFEATURE$ are common.	has_symptom
+8299f61fc1079e50a92e377be22e233d0f86afc8	@DISEASE$ (WARBM) is a genetic heterogeneous disease characterized by microcephaly, @PHENOTYPICFEATURE$, brain, ocular, and endocrine anomalies.	has_symptom
+ad35d642b21be0eaa7f4b5faee7b881d6888665a	Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by @PHENOTYPICFEATURE$, @DISEASE$, brain, ocular, and endocrine anomalies.	false
+04b052a5fa8c21071d2a740f49fa013bcfdc4e32	@DISEASE$ (WARBM) is a genetic heterogeneous disease characterized by @PHENOTYPICFEATURE$, intellectual disability, brain, ocular, and endocrine anomalies.	false
+d8b66e21440e496ef259ae83f900551a298dd6e7	Recently mutations in the catalytic subunit p130 and the noncatalytic subunit p150 of Rab3 GTPase-activating protein were found to cause @DISEASE$ and Martsolf syndrome, respectively, both of which exhibit @PHENOTYPICFEATURE$.	has_symptom
+430b26da5e09398b5a950295c3308223a63cb6fb	The characteristics of @DISEASE$ are @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	has_symptom
+82b8398b686ce781b0b19165f854c05a3f45a99d	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+30b9dca391773bff5d091c5dfd97405d491f4c4c	The characteristics of @DISEASE$ are mental retardation, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+2b805382a8c5f37c63436550cea76789f3cbaf49	The characteristics of Micro syndrome are mental retardation, @PHENOTYPICFEATURE$, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+4d112b69b4683025d0f198f5891bafc0646a4f24	The characteristics of Micro syndrome are @DISEASE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+d47e0f1810544bd67d3bca3b64fb41fa5148435f	The characteristics of Micro syndrome are @DISEASE$, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+47853bb66d8dd0e9929e95f74b34629195e3ab34	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+c4606547de20a0ad2b5ef246a5f2719ede3ea581	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+2b0d12ca6e5de2e59f76173f1cc217c9e9a45609	The characteristics of Micro syndrome are @DISEASE$, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+105f7182cb86fe46c5a88d05cb3e884be30cd360	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital @DISEASE$, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+1dfc3d7eff0cdeb2521a36c4cf6b07a6e06c021c	@DISEASE$ is characterized by microcephaly, growth retardation, @PHENOTYPICFEATURE$ appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.	has_symptom
+d32982ad1e00bb7f5e4cc3ea658fce81b7616bfa	Nijmegen breakage syndrome is characterized by microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.	false
+646e3ea93ac6d10fad0e91b41089851086f243c8	Nijmegen breakage syndrome is characterized by microcephaly, @PHENOTYPICFEATURE$, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to @DISEASE$ development, predominantly lymphoma.	false
+9690ee8f4a4e03267770cb53fdb52fa302703d20	Nijmegen breakage syndrome is characterized by @PHENOTYPICFEATURE$, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly @DISEASE$.	false
+6789cf05b6c83d6c071e9478c3c994cde422fe80	@DISEASE$ is characterized by microcephaly, @PHENOTYPICFEATURE$, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.	false
+2d12a5a95163b78317a467eefbb5a4d7680325cf	Nijmegen breakage syndrome is characterized by @PHENOTYPICFEATURE$, growth retardation, @DISEASE$ appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.	false
+a638ff91f6ff20fb33f4f2cd5ad49bac510a690e	Nijmegen breakage syndrome is characterized by @PHENOTYPICFEATURE$, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to @DISEASE$ development, predominantly lymphoma.	false
+fac4f172e401641a760c862865bbb921b723eaa4	Nijmegen breakage syndrome is characterized by @PHENOTYPICFEATURE$, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, @DISEASE$, and a high predisposition to cancer development, predominantly lymphoma.	false
+d0fdd3fd4ecf0c77ce303af49589f00c581644d0	Nijmegen breakage syndrome is characterized by microcephaly, @PHENOTYPICFEATURE$, abnormal facial appearance, spontaneous chromosomal rearrangements, @DISEASE$, and a high predisposition to cancer development, predominantly lymphoma.	false
+89cdc921e8b8319dd814bee6722a337b8d8b9820	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.	false
+1b6b312038bf4d5935a4dac48ca7af629448c711	Nijmegen breakage syndrome is characterized by microcephaly, @PHENOTYPICFEATURE$, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly @DISEASE$.	false
+1ca1186a830525b4355acff7798a784a683d4395	This finding is demonstrated in the isolated X-linked @PHENOTYPICFEATURE$, the @DISEASE$, and in Lowe's syndrome.	has_symptom
+22c71eb281aa41eb6526f864d7d905f2f8bc4324	@DISEASE$ infection produces a sudden onset of fever, joint pains and @PHENOTYPICFEATURE$ skin eruption.	has_symptom
+695aa82b397e365d0809952f407305276f6d8b1f	To describe @DISEASE$, a syndrome consisting of Duane's syndrome, radial ray anomaly, and @PHENOTYPICFEATURE$.	has_symptom
+769352ae4f2c95374a57b347c9bbeaf25e4e505d	@DISEASE$ is consistent with autosomal dominance with variable penetrance, manifesting primarily with Duane's syndrome and radial ray anomaly, and less frequently, @PHENOTYPICFEATURE$.	has_symptom
+af608974e76083905dcc8a2c437362699411c5c7	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (@DISEASE$) and the more proximal region DGCR2 responsible for @PHENOTYPICFEATURE$ and thymus hypoplasia/aplasia.	has_symptom
+3d06bfa680ad962abc5f457a07690821acc74397	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for @DISEASE$ and @PHENOTYPICFEATURE$/aplasia.	false
+4a9b541d9d52f51f89c282e7783c0f0d9d26e735	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, @PHENOTYPICFEATURE$, and renal defects (@DISEASE$) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.	false
+f3de103bd48832f9fc9badfbdd95578d4b30b5e9	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with @DISEASE$, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and @PHENOTYPICFEATURE$/aplasia.	false
+2217784b3b3c7fd185790c5bb72fe39198a534bd	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, @PHENOTYPICFEATURE$, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for @DISEASE$ and thymus hypoplasia/aplasia.	false
+a409e118c17a2d2ebc89a354eedcc1ceb512202d	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (@DISEASE$) and the more proximal region DGCR2 responsible for heart defects and @PHENOTYPICFEATURE$/aplasia.	false
+fbcc00e131a12e10fe496e529d15a672e1cc587c	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with @DISEASE$, @PHENOTYPICFEATURE$, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.	false
+b11a65d81ab5949ef95a2e10588dec3d7726b4c6	Moreover, our case demonstrates that acute @DISEASE$ may rapidly develop after transvenous embolization due to superior ophthalmic venous (SOV) thrombosis and that an early intervention may reduce the risk of @PHENOTYPICFEATURE$.	has_symptom
+5eee5dcba4762b4d9ebc13dd6fa02456d815f479	Considering the diagnosis of @DISEASE$ in patients with neonatal microcephaly and @PHENOTYPICFEATURE$ is necessary since an early diagnosis may allow adequate genetic counseling to the families.	has_symptom
+53630a3745ad0b8778ae153b3113c2f514fb15ac	Considering the diagnosis of @DISEASE$ in patients with neonatal @PHENOTYPICFEATURE$ and cerebral calcification is necessary since an early diagnosis may allow adequate genetic counseling to the families.	false
+740071995b40b6ce5a1476281fe40f03ac28210f	Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal @PHENOTYPICFEATURE$ and @DISEASE$ is necessary since an early diagnosis may allow adequate genetic counseling to the families.	false
+4394c32c027fff47509426a2c6b610882c7d233d	@PHENOTYPICFEATURE$ and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named @DISEASE$.	has_symptom
+b03b8a8cfffdc875f4f96c09d0a0c953505b2a7c	Intracranial calcification and @PHENOTYPICFEATURE$, which represent the main clinical features of the @DISEASE$, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome.	false
+00a71e250a294f12bb281915a624fcf45207c958	Intracranial calcification and @PHENOTYPICFEATURE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive @DISEASE$-like condition named pseudo-TORCH syndrome.	false
+972cc3ca66d4a3dad2ffe91cac2c6a36222c89cc	Intracranial calcification and @PHENOTYPICFEATURE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named @DISEASE$.	false
+67ac581c40eee216030201e6f3f02e2d72b22e07	@DISEASE$ and @PHENOTYPICFEATURE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition named pseudo-TORCH syndrome.	false
+4aecf063e51518dd05eb5383b69c78217fc34ddd	Intracranial calcification and @PHENOTYPICFEATURE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition @DISEASE$ pseudo-TORCH syndrome.	false
+3ac4ca19b85939219607a6349e98c9bea9ee201c	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @PHENOTYPICFEATURE$, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	has_symptom
+78b5f9a9762a2b9f375da656a5d92ceb23fcec1f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+8f655744b61427b02c13c33551f6a7d832f5dec8	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @DISEASE$, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+d8ed8f5b09c88e503ec48bdd3ca9d729bc2b129e	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and @DISEASE$.	false
+b9fad54df80e261bdd93d1ddf8803164bc7c61a2	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+4ae8161bbe9bfa0362bb5cc45bd336bc6c97490f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+6574668a3ff10928e3e5ccdd384639f0d1a36e43	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and @DISEASE$.	false
+c0699a6f4086ebd42f6cfd1a9cfda32b0131425a	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and @DISEASE$.	false
+1b3400c436f9b421b629be35db6c908ed821a664	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, @DISEASE$, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+6d718824cf5b8f84ef38968e20c6ea23b2f075f4	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+1163798081bf1a573caba45d64844920299f944f	@DISEASE$ (PTS) is characterized by microcephaly, enlarged ventricles, @PHENOTYPICFEATURE$, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent.	has_symptom
+45d711d67c2250dd9aef4e9fa826a3821fd8b863	Pseudo-TORCH syndrome (PTS) is characterized by @PHENOTYPICFEATURE$, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital @DISEASE$ but in the absence of an infectious agent.	false
+b85a7d0a08bc0c38d2292fe3d7ce1dfeb5135242	@DISEASE$ (PTS) is characterized by @PHENOTYPICFEATURE$, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent.	false
+c08211aea193b35affbb7a0dca63e5fde1cbffb7	Pseudo-TORCH syndrome (PTS) is characterized by @PHENOTYPICFEATURE$, enlarged ventricles, @DISEASE$, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent.	false
+80016be32e2a9cbaed7995a26751fa0512865f16	[@DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+269d700e7ae9f4474c929605e42ab3fca84c1834	Diabetic and @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+51ef3513870bf7d10a8a2b990e89477e32449f6a	A major complication of @DISEASE$ is @PHENOTYPICFEATURE$.	has_symptom
+3149dec4dfcd2021e11fe39efff025cf45a4186c	[Morphology of @DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+2224a094c2777c60645203602da0ab4ef85b611d	@DISEASE$ @PHENOTYPICFEATURE$; a report of two cases.	has_symptom
+c1348cf5da3a296f93c11fcf1664e0bba0520159	[Clinical contribution to the study of @DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+39f24b242226ba78a38a10019829290d4011eacb	Metabolic studies of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+ba9a078ed48c41f5aa1161c3709ef039cc067e47	The lens, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+60e6829fa76485c4d4ecd6e9aa2aab787824be35	@DISEASE$ @PHENOTYPICFEATURE$; report of a case.	has_symptom
+269d700e7ae9f4474c929605e42ab3fca84c1834	Diabetic and @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+d963f156b70f1a5b8a2e7dbbe5edc7e95546586a	Truncating mutations in SALL4 cause @DISEASE$, manifest as Duane anomaly, radial ray defects and sensorineural and @PHENOTYPICFEATURE$.	has_symptom
+7623f79d5545e6f9c8a16ff7135b1107fa9dfba8	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, @PHENOTYPICFEATURE$, flattened nose, malformed ears, and gaping mouth.	has_symptom
+650c59d8a4f5671917923c7d1042e22e9c130427	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, @PHENOTYPICFEATURE$, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+98675b8d2de97afa4a8be930570f69d36112e90c	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+eb627680472718e081e1b101673e9e4d9779a7ed	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including @PHENOTYPICFEATURE$, marked intrauterine growth restriction, limb deformities, @DISEASE$ and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+b64e522a7add507482f9ca90776368add9ecac16	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, @PHENOTYPICFEATURE$, @DISEASE$, flattened nose, malformed ears, and gaping mouth.	false
+9b4f00156cd3d5f9916da12c7917650be5717cb6	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including @PHENOTYPICFEATURE$, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+5079258eab424a67495f9838204f37f1b7754253	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including @PHENOTYPICFEATURE$, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, @DISEASE$, flattened nose, malformed ears, and gaping mouth.	false
+fca6348f5b218b8deeb144393eb8bad11c13db9d	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, @DISEASE$ and abnormal facial features, consisting of severe proptosis with ectropion, @PHENOTYPICFEATURE$, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+407b3f38afbf939315dad4f0f8fbbce726d20632	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, @DISEASE$ and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+65cc6a0c885605ef603c8724a5e32fb1615e6103	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, hypertelorism, @DISEASE$, flattened nose, malformed ears, and gaping mouth.	false
+d514f5aa1e36564782a1ffad7b7c32751f3c9600	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @PHENOTYPICFEATURE$).	has_symptom
+14445a14fa212f2874c09759231412cc49822f6d	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+6c4a84e9fe9ba64a32755445ea45913f41a2ddaf	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and micrognathia).	false
+c0ba9448594b68b2ad9dff8b432f0d8fa88b173e	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+6c17af69f27d0087701e6edc58cacd9d37bd41bc	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+18ed3690fe2a6e01279bc5f704fbf4cb4ddfbb6a	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+e8fe178852fda52cb0db57974bcff55ad9e3595d	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @DISEASE$).	false
+74f317a7c03090a1d2df8d433feecaea7d3e8db5	Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including @PHENOTYPICFEATURE$ with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and @DISEASE$).	false
+cfc3b1a4fda398ca38390652c326d860700f6f96	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, @PHENOTYPICFEATURE$, and micrognathia).	false
+519fbf661b17bb8a281e57e46fd5f2468eff0d9a	Neu-Laxova Syndrome (NLS) is a severe disorder with @DISEASE$, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+1b82d8c837bebc99b31752066ab63f768d848977	Mutations affecting genes encoding ribosomal proteins cause @DISEASE$ (DBA), a rare congenital syndrome associated with physical anomalies, @PHENOTYPICFEATURE$, red cell aplasia, and an increased risk of malignancy.	has_symptom
+dd4d58bda31ba9dfdc611564b3c9177683345075	Growth hormone therapy for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a1e19eac593b8033fdfd06f9d4a4daa3429dda29	We report a 13-year-old male with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+45faf3b0ad73506cc8846a6d725208feeb68c944	Growth hormone improves @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+87f903253fdbd3b141449dbe3b02efb21ee1b37e	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @PHENOTYPICFEATURE$, ataxia, seizures, and behavioral abnormalities.	has_symptom
+bd57598fd93b6f96c7005047071af9634018cfea	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, @PHENOTYPICFEATURE$, seizures, and behavioral abnormalities.	false
+350f58020e7f6b0771b1376b0b92671d93f9f1ac	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, @PHENOTYPICFEATURE$, and behavioral abnormalities.	false
+f8830a8492bf461559d581f1f1b987003affed86	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @DISEASE$, @PHENOTYPICFEATURE$, seizures, and behavioral abnormalities.	false
+90ab1f1a8f010d385322704d7ef8ab977db9cbee	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, @DISEASE$, ataxia, @PHENOTYPICFEATURE$, and behavioral abnormalities.	false
+bab283fbf75f6ca5f022978cb4bee37b6ff10b7b	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities.	false
+04e1951e1c67b88f8526d86e74cf8b985ab22351	Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, @DISEASE$, ataxia, seizures, and behavioral abnormalities.	false
+a1df1a925e74d6fce741819d8196cec337e613b2	@DISEASE$ is an X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	has_symptom
+f63fc7204e891294913bca7f124531a5b4e23990	Christianson syndrome is an X-linked @PHENOTYPICFEATURE$ @DISEASE$ characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+bba89227bf553f6f7449b1646a697dcb5b32d2ad	@DISEASE$ is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+88301f8ba3f938bc270dbaf8ac95b85bf92ead2e	Christianson syndrome is an X-linked mental retardation syndrome characterized by @DISEASE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset seizures of variable types.	false
+c296f761c9bf3825d1126d4fa2625ba448bdf533	Christianson syndrome is an X-linked mental retardation syndrome characterized by @DISEASE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset @PHENOTYPICFEATURE$ of variable types.	false
+aeaf1a830df09de76d1bdb6edf1902562ecaf57e	Christianson syndrome is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by @DISEASE$, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+1ee38b07a6836d7d3034f1dcb9ec7333caab62b1	Christianson syndrome is an X-linked mental retardation @DISEASE$ characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset seizures of variable types.	false
+dcf8c1bcb0d2470e58425b69386121d555adeda4	Christianson syndrome is an X-linked mental retardation @DISEASE$ characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset @PHENOTYPICFEATURE$ of variable types.	false
+e158f36ceb430efdb4a47905e83465dca604aba1	@DISEASE$ is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset @PHENOTYPICFEATURE$ of variable types.	false
+7dbbbf540de43f60107a5eb377809b9521374dff	@DISEASE$ is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset seizures of variable types.	false
+084759276f19416641b49baad7b8d9e27c304fcf	Mutations in SLC9A6 have been reported in X-linked @DISEASE$ associating severe to profound intellectual deficiency and an Angelman-like phenotype with @PHENOTYPICFEATURE$, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.	has_symptom
+97c4efaf5127a6bce9ecd15e49c4b91daf5adee4	Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with @DISEASE$, absent speech, @PHENOTYPICFEATURE$ with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.	false
+a51dcc35c79627a1dec9a5bf8150ef9aa818d493	Mutations in SLC9A6 have been reported in X-linked @DISEASE$ associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, @PHENOTYPICFEATURE$ with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.	false
+6c81e24b6af04366473bba71816c46d12c97f4b2	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @PHENOTYPICFEATURE$, severe global developmental delay, ataxia and seizures.	has_symptom
+0dc4e8ad456ebe83fe3c93741df8c902af9751d0	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @DISEASE$, severe global developmental delay, @PHENOTYPICFEATURE$ and seizures.	false
+b7cef3ff1e69c14a8667d2dcf2ea0762cf93cde0	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by @DISEASE$, severe global developmental delay, ataxia and seizures.	false
+03825a934572c647904ba216b115bd4908c7daa8	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.	false
+fc0e01728e871c3d02d1326c9cbc5d1c027ee168	Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by @DISEASE$, severe global developmental delay, ataxia and @PHENOTYPICFEATURE$.	false
+2cb9d009057915c2fc57f9bcc09fb6aa1b73540d	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, @PHENOTYPICFEATURE$ and seizures.	false
+65d3d01b71147f26c73b423ab2be106dbb8b7b71	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and @PHENOTYPICFEATURE$.	false
+7857495bd89242c5e3934ff31505fe0012213764	@DISEASE$ (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, @PHENOTYPICFEATURE$ and impaired ocular movements.	has_symptom
+82121aa65e78c713cfa1610603597b05f80c7a4c	Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and @PHENOTYPICFEATURE$, developmental regression, epilepsy, @DISEASE$ and impaired ocular movements.	false
+ec58e61ce510b04f10a849ed061a217e38a2224e	@DISEASE$ (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and @PHENOTYPICFEATURE$, developmental regression, epilepsy, microcephaly and impaired ocular movements.	false
+3e2fd995dfe3918b8a6aa6d74124f6ef1f491f67	Of the genes in that region, we propose that SLC9A6 is the most likely to play an important role as mutations in this gene lead to @DISEASE$, in which patients may have @PHENOTYPICFEATURE$ and weight loss.	has_symptom
+cf4bf8e28060b4cef37b689f00a1f118259adff9	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by @PHENOTYPICFEATURE$, severe global developmental delay, autistic behavior, early onset seizures and ataxia.	has_symptom
+6a031a4fa4513bb3f6383f6ec7445757886462e4	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, @DISEASE$ behavior, early onset seizures and @PHENOTYPICFEATURE$.	false
+89cb92a6c4eb542f67639ae0005381cf5f931939	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, @DISEASE$ behavior, early onset @PHENOTYPICFEATURE$ and ataxia.	false
+488f9f3994b8a50a8279775c4e5edc78d96842da	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by @DISEASE$, severe global developmental delay, autistic behavior, early onset @PHENOTYPICFEATURE$ and ataxia.	false
+f20542903102f4cdce1e62bbe0ab751ffde7ad7d	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset @PHENOTYPICFEATURE$ and ataxia.	false
+c69d7e2500b61fedb0e7766343a88ded672bbede	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with @DISEASE$, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and @PHENOTYPICFEATURE$.	false
+f2d81e5d8b88163991c8da26d03790622d3ce5ba	Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by @DISEASE$, severe global developmental delay, autistic behavior, early onset seizures and @PHENOTYPICFEATURE$.	false
+585c04e01d550b3528cd2987fd8eba0d0a62dc06	@DISEASE$ is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including @PHENOTYPICFEATURE$.	has_symptom
+9736daf6e60ee8a4fa2db59aa70050172f038bba	@PHENOTYPICFEATURE$ precedes peripheral hearing loss in developmental @DISEASE$ and is transient if rescued by dietary biotin within a short developmental window.	has_symptom
+585c04e01d550b3528cd2987fd8eba0d0a62dc06	@DISEASE$ is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including @PHENOTYPICFEATURE$.	has_symptom
+3848041b848e1e4c676fadd088a3d871329ad12f	Malignant infantile @DISEASE$: a rare cause of neonatal @PHENOTYPICFEATURE$.	has_symptom
+8ad1319df8577c8ac004c7100580aae4c4f39500	Malignant infantile @DISEASE$ presenting with neonatal @PHENOTYPICFEATURE$.	has_symptom
+6272f8a5569bedd08f602f6c4400e7ca62718af6	Persistent @PHENOTYPICFEATURE$ and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile @DISEASE$.	has_symptom
+fd7cafd6b6c2c00a4f405a3efc8a185614c50d8e	This report describes a 10 day-old boy in whom neonatal @PHENOTYPICFEATURE$ was present and whose brother had died with the diagnosis of @DISEASE$.	has_symptom
+98d78eddfe8e3906a33f330def4f17a3530f3513	Malignant infantile @DISEASE$ initially presenting with neonatal @PHENOTYPICFEATURE$: case report.	has_symptom
+07fbb7bc0a3598479a7f6df9f2297f34fa441d17	Malignant infantile @DISEASE$ (MIOP) is a rare cause in the list of etiological factors of neonatal @PHENOTYPICFEATURE$ in several textbooks.	has_symptom
+f13614b4eac7ec5b8336b919bc7ad9081855985c	Although occasionally reported previously, malignant infantile @DISEASE$ remains essentially unrecognised as a cause of neonatal @PHENOTYPICFEATURE$, often resulting in diagnostic confusion and delay.	has_symptom
+513955d91483b6a6e5f0eb92bedcd8424d4a3663	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	has_symptom
+6a0a9923c7556a401dcdec793f801bea83ca0b5c	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, @DISEASE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+473af8cb805a27d059f9f29b0115f324ab4769c7	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+433e18c4713d46797d34b55f8d1b0af22884cc49	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @DISEASE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+f30a9fb6f76f8a32a0bb7f73d2a400deb844bcf3	The cat eye syndrome is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, @DISEASE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+97b1c85223e089eb11b6a51f6d7fec0c9d495ed1	The cat eye syndrome is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+d495648157b1d042dd65839f3f808802be11696a	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+9faa4f2f07107bd23e6b8d3e48716e22b8a4470d	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+390eddbcd4027aac590c7b00bdf6190d095c23be	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @DISEASE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+998e2fde2ebd5f9e310d188d770a13005852338f	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+7aede71a3b23149291bd0d4840b0caa11ef1ae2d	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+364d875a6361929c7ff028892a6c4c18e8750176	The @DISEASE$ is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+20f38bb0bcd0c1fe99349fefbeea4e756748db1f	The cat eye syndrome is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+1ed2f77dad94f2e8aac394792a6321a12f552428	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+c3816ecfb05c41cf827dcf5a3baf6a6d17ec9e68	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+c8ae5acf6e553e8c801249c875a0ae304daf35d5	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+013ef1d4e3696c8fa8a5ccd9bacc048f9470407a	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+06aff040a6231454cbd284cd6557d5a017de6aee	The @DISEASE$ (RRS) is characterized by hearing loss, @PHENOTYPICFEATURE$, ataxia, primary hypogonadism and autosomal recessive transmission.	has_symptom
+72e330f35a8dd3e00f2f27e39b1f9baf5d32e441	The @DISEASE$ (RRS) is characterized by hearing loss, mental deterioration, @PHENOTYPICFEATURE$, primary hypogonadism and autosomal recessive transmission.	false
+d8e7e5ad5e036a299df4801f32254f00b73f1604	The Richards-Rundle syndrome (@DISEASE$) is characterized by hearing loss, mental deterioration, @PHENOTYPICFEATURE$, primary hypogonadism and autosomal recessive transmission.	false
+d28e8dd8ebcd6ee31d983db62d0ba9e2c45378ce	The Richards-Rundle syndrome (RRS) is characterized by hearing loss, @DISEASE$, @PHENOTYPICFEATURE$, primary hypogonadism and autosomal recessive transmission.	false
+7e9e936d6a559bde29ab64c6f69e859f0964ed3e	The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, @PHENOTYPICFEATURE$, primary @DISEASE$ and autosomal recessive transmission.	false
+6651f564896ef6ece1fb6d089d46eec8871aa1b0	The Richards-Rundle syndrome (RRS) is characterized by @DISEASE$, mental deterioration, @PHENOTYPICFEATURE$, primary hypogonadism and autosomal recessive transmission.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+8d0c030e6e55ac0c150b3c90613b1e6a81547eef	@DISEASE$ patients are more susceptible to infection with @PHENOTYPICFEATURE$ virus SV40.	has_symptom
+d0c454dfff87f8dea8852f9b68f5c0e6a0702c66	@DISEASE$ pathway defects in @PHENOTYPICFEATURE$: cause or effect?	has_symptom
+384da315e85a93c940148382ff1691d1be73254d	These results suggest that the NM may have therapeutic potential in @DISEASE$ associated @PHENOTYPICFEATURE$.	has_symptom
+407c50e3038429b8ee1bfb8c16d90f07c56b1616	Patients with @DISEASE$ have a high risk of hematologic malignancies and solid @PHENOTYPICFEATURE$.	has_symptom
+e5158d6145bdabe341aaeb11fccf9081ef30fd6a	Leukemia in @DISEASE$: cytogenetic and @PHENOTYPICFEATURE$ virus susceptibility studies.	has_symptom
+e8b7fe492214ef40178c21894a0e28977c226899	Malignant @PHENOTYPICFEATURE$ frequently occurs with @DISEASE$.	has_symptom
+f155f1465a8cf482b9b846860e2678be402bbf34	This review identifies the types of @PHENOTYPICFEATURE$ for which patients with @DISEASE$ are at risk.	has_symptom
+d553f7be325c8a25c363fdf629e4246e1f0a993b	Multiple synchronous @PHENOTYPICFEATURE$ in a child with @DISEASE$.	has_symptom
+a0765a6fc92bf5dca46af8a7e7304fcc5c29ab6c	Advances in the understanding of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor pathway.	has_symptom
+772f3aaf45fa8f47e99646d80d713f154ca64d43	In vivo therapeutic responses contingent on @DISEASE$/BRCA2 status of the @PHENOTYPICFEATURE$.	has_symptom
+7cece88709b25cebdf6c8d2f49ae6b2d6df299f5	Gene array analysis reveals that @DISEASE$ @PHENOTYPICFEATURE$ fluid induces several inflammation-modulating and proliferation-related genes in fibroblasts, whose inductions are similarly dependent on bioactive IL-1beta.	has_symptom
+4bc9af4bd2ed76a3ffa27f7e240f1f5bb40f2474	Effect of partial liquid ventilation on pulmonary vascular permeability and @PHENOTYPICFEATURE$ after experimental @DISEASE$.	has_symptom
+935a87408208840398f4ffea9edb8f49b21cd5b9	@DISEASE$ @PHENOTYPICFEATURE$ fluid decreases net fluid transport across human alveolar epithelial type II cells.	has_symptom
+c9ee37524b87a2435d71b79c3473236cdec26c3e	Exome sequencing of a 6-year-old female patient with seizures, @PHENOTYPICFEATURE$, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of @DISEASE$ (BOS).	has_symptom
+d77f3104bedcd2a926612bda23ace73c9e161c35	Exome sequencing of a 6-year-old female patient with @PHENOTYPICFEATURE$, @DISEASE$, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS).	false
+0df12c8cb63816a9a4a7dcc00a6b6ec687a60ac0	Exome sequencing of a 6-year-old female patient with @PHENOTYPICFEATURE$, developmental delay, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of @DISEASE$ (BOS).	false
+bbb9b5532a3f3d02d588562c36db029624285e27	Medical variables pertaining to seizure history include seizure type, cause, age at onset of seizures, @DISEASE$ of disorder, and @PHENOTYPICFEATURE$ frequency.	has_symptom
+f22e15dd81fd10152f04c2889f7c9acee20a4432	Medical variables pertaining to seizure history include @PHENOTYPICFEATURE$ type, cause, age at onset of seizures, @DISEASE$ of disorder, and seizure frequency.	has_symptom
+80eae20e30efa4b16b29d7ac31a3b07422c6f3fa	Medical variables pertaining to @PHENOTYPICFEATURE$ history include seizure type, cause, age at onset of seizures, @DISEASE$ of disorder, and seizure frequency.	has_symptom
+f0c75e9969bd79a8ae8177377dc192cf464c362f	Medical variables pertaining to seizure history include seizure type, cause, age at onset of @PHENOTYPICFEATURE$, @DISEASE$ of disorder, and seizure frequency.	has_symptom
+5871fc3914145ba66ac41b9926dfc4418b2d72b3	Ten CH patients had perinatal @PHENOTYPICFEATURE$ of short @DISEASE$.	has_symptom
+65a006ed48e92c09047224f57c555ca96ff30d14	Memory impairment was analyzed with respect to the following variables: @PHENOTYPICFEATURE$ frequency, seizure type, @DISEASE$ of the disorder, and anticonvulsant medication.	has_symptom
+4cd7107951dcc0be29aa9bad1ba2759e91828cca	Memory impairment was analyzed with respect to the following variables: seizure frequency, @PHENOTYPICFEATURE$ type, @DISEASE$ of the disorder, and anticonvulsant medication.	has_symptom
+1d3aa513300a3e629fce77c5b8dcb8bbfacf97a4	generalized seizure semiology (p=0.01) and short @PHENOTYPICFEATURE$ @DISEASE$ (p=0.0007).	has_symptom
+f61b399bdaf578fccb4b0849ee4409d2ee5e2da1	@PHENOTYPICFEATURE$ semiology (p=0.01) and short @DISEASE$ duration (p=0.0007).	false
+27f179abd8b8cb5b265b7614cfd85ce6ec874297	@PHENOTYPICFEATURE$ semiology (p=0.01) and short seizure @DISEASE$ (p=0.0007).	false
+bff69200cc48ddc1c07ffedaa3a352bf0bb37a28	At 1 year postinjury, FIM, @DISEASE$, Community Integration Questionnaire (CIQ), employment, residence, marital status, and @PHENOTYPICFEATURE$ occurrence.	has_symptom
+8168a6208b0ddf2d9279c6d0e7075d0a27265745	@PHENOTYPICFEATURE$ manifestations were typical, characterized by cyanosis, staring and rare lateralizing signs, of short @DISEASE$.	has_symptom
+a4aa8fdb1cccccaedf47ca23125c9bb910487a06	Mean age at onset of @PHENOTYPICFEATURE$, @DISEASE$ of seizure disorder, and total seizure number did not vary statistically between the two groups of patients.	has_symptom
+8d09c46307bf84790acfcea40e7dfad6eaa53bfa	Mean age at onset of seizures, @DISEASE$ of seizure disorder, and total @PHENOTYPICFEATURE$ number did not vary statistically between the two groups of patients.	has_symptom
+5562e03c60fb67c6043dd8474c72ec527883e416	The @PHENOTYPICFEATURE$ had short @DISEASE$ and occurred most often in clusters.	has_symptom
+8d58af16c0dd62befabc42b0be4948d0d8c35b51	The patient was an 11-year-old female with @DISEASE$ who presented with @PHENOTYPICFEATURE$.	has_symptom
+ce2a521ce94e681ab992ba60c8ae3f079cb1a839	A significant difference in caregivers' assessment was found according to age, frequency of @PHENOTYPICFEATURE$ and @DISEASE$ of disease.	has_symptom
+819931def7de081a6ef4d61e7cc14b338f63a334	Congenital @DISEASE$ with @PHENOTYPICFEATURE$: case series.	has_symptom
+4a923ad21512c45e23cf23d84889fd046e63a173	@DISEASE$ rings implantation for treatment of congenital aniridia combined with @PHENOTYPICFEATURE$ surgery: a case report.	has_symptom
+6c3095b6ccd82f2eb77b11e091ecbd54e446c86a	Aniridia rings implantation for treatment of congenital @DISEASE$ combined with @PHENOTYPICFEATURE$ surgery: a case report.	has_symptom
+18ce58f8fbc060295d456c6bdfd363aa8a36bc34	[Congenital @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+18ce58f8fbc060295d456c6bdfd363aa8a36bc34	[Congenital @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+a699d277d6acae54f5033a09570375d6567a7b71	Combined cataract phacoemulsification and @DISEASE$ endocapsular rings implantation in a patient with bilateral congenital aniridia and @PHENOTYPICFEATURE$: A case report.	has_symptom
+fcdee2425a868b687c9c3b57fffc3e64357f4367	Combined @PHENOTYPICFEATURE$ phacoemulsification and @DISEASE$ endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report.	has_symptom
+99412c6a5b673b30a196519585b6467dc142f377	Combined @PHENOTYPICFEATURE$ phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital @DISEASE$ and cataract: A case report.	has_symptom
+f8fd2dcb7b0002bbe6d7072a34603284750689bb	Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital @DISEASE$ and @PHENOTYPICFEATURE$: A case report.	has_symptom
+757d06112360baa356c74ea1c3ff490423ee5884	[@DISEASE$ after @PHENOTYPICFEATURE$ extraction].	has_symptom
+3765dde7f008ad63ba87ed63bd2a921d478aaff4	@DISEASE$, @PHENOTYPICFEATURE$, and Wilms tumor.	has_symptom
+82f7bbafbd4b65d879d103663b86a7d195ed6701	Treatment of congenital @DISEASE$ associated with subluxated infantile @PHENOTYPICFEATURE$.	has_symptom
+82f7bbafbd4b65d879d103663b86a7d195ed6701	Treatment of congenital @DISEASE$ associated with subluxated infantile @PHENOTYPICFEATURE$.	has_symptom
+efe3d15ae12332a59f82ac2a537b6ec5db76e483	Since June 1991, we have implanted this IOL into five eyes with congenital @DISEASE$ combined with @PHENOTYPICFEATURE$, and into eight eyes with traumatic aniridia combined with cataract or aphakia.	has_symptom
+99546314940711c3ac3ca79273b1f6642681bd32	Since June 1991, we have implanted this IOL into five eyes with congenital aniridia combined with cataract, and into eight eyes with traumatic @DISEASE$ combined with @PHENOTYPICFEATURE$ or aphakia.	has_symptom
+dab74adcdd1fb89ba4b890d9c08fd3d8f9651a97	Since June 1991, we have implanted this IOL into five eyes with congenital aniridia combined with @PHENOTYPICFEATURE$, and into eight eyes with traumatic @DISEASE$ combined with cataract or aphakia.	has_symptom
+a3479c37ce65154ca5aef9935727db56db0a6c9d	Since June 1991, we have implanted this IOL into five eyes with congenital @DISEASE$ combined with cataract, and into eight eyes with traumatic aniridia combined with @PHENOTYPICFEATURE$ or aphakia.	has_symptom
+21313f400c16e5eec7efe347f53df2ce17655156	Phenylketonuria was found in a @PHENOTYPICFEATURE$ girl and in one of her brothers; @DISEASE$ in a mentally retarded boy and heterozygote cystinuria in a man with manic-depressive psychosis.	has_symptom
+9836af1596b6e85cd2065d6ecb7e6c7733a5c2ed	The infection can be accompanied by @PHENOTYPICFEATURE$ and abdominal cramps and in rare cases the Guillain-Barr? syndrome or @DISEASE$ can develop as a post-infection complication.	has_symptom
+24bf86387ec9a61952e0b4139475a4e1499a3179	Whereas the initial clinical presentation, as described in the literature, includes @PHENOTYPICFEATURE$, cough, expectoration, extrapulmonary organ changes or typical laboratory findings, atypical manifestations such as @DISEASE$ must be considered.	has_symptom
+d728c3f405bf7a4db2d7fc6f9aade183011c995f	These cases have been compared with 14 sporadic observations of the existing studies where such @DISEASE$ were referred to a recent YPT infection, this confrontation leads us to specify the characteristics of this inflammatory rheumatism : starting by a prearthritic phase with variable combination of @PHENOTYPICFEATURE$, diarrhea, abdominal pains, erythema nodosum, usually polyarticular affection (90%) mostly of the knees (89%), ankle-joints, wrists and elbows, marked inflammatory clinical and biological signs but without X.	has_symptom
+d86eb9cb49cdad4f361c0d2d82318764946d2902	Acute @DISEASE$, a syndrome of @PHENOTYPICFEATURE$ and inflammatory arthritis following recent sexual intercourse, is a frequently misdiagnosed arthritic presentation.	has_symptom
+8ccad9f643e6cf2cbbbecc1601e1a7fb1cd7d950	After an acute onset with @PHENOTYPICFEATURE$, diarrhea, and abdominal pain, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed @DISEASE$, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	has_symptom
+08e9339482bda817b5d9f68f58268268130c6ab4	After an acute onset with fever, @DISEASE$, and @PHENOTYPICFEATURE$, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+373362f55a18781f7d254869ac04b24a233889ef	After an acute onset with fever, diarrhea, and @PHENOTYPICFEATURE$, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed @DISEASE$, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+e21586be1ab81be88e3b77a02d9d93b8ace9d7ef	After an acute onset with @DISEASE$, diarrhea, and @PHENOTYPICFEATURE$, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+2ab7a02d11e3d189d560e1f850bb7d0cf6cdb5a3	After an acute onset with fever, diarrhea, and @PHENOTYPICFEATURE$, 22 patients developed @DISEASE$, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute anterior uveitis, and nine patients developed conjunctivitis.	false
+3b06cee1239a0be887d4c6c70a88c28afd80716e	After an acute onset with fever, diarrhea, and @PHENOTYPICFEATURE$, 22 patients developed arthritis, 11 patients developed myalgia, 11 patients developed Reiter's syndrome, 17 patients developed acute @DISEASE$, and nine patients developed conjunctivitis.	false
+b9536c5f0c49487a63b92a1aa774bbc755b5df9b	[Skin eruption, @PHENOTYPICFEATURE$ and @DISEASE$ following the attack of deer keds].	has_symptom
+6f35b7fe0615b41ad9cc2062b9b1f3f18e01448e	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, @PHENOTYPICFEATURE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	has_symptom
+544b3473834d78eddd368fae0cb8b6cf1a7f8e1c	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @PHENOTYPICFEATURE$, @DISEASE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+845b97797016dd608b9f4a03ddf24108ab879344	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, @DISEASE$, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+bc79d17699197ef951383e7800903cd4d54cdfdc	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+5e4a264c84d6b1d8f47a5da906e9d7fb82a70dd6	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, @DISEASE$, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+d8397a3130963b9aefd3b606787404ed2c44f55b	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes @PHENOTYPICFEATURE$, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+e27922596b736dc2b91834f97e00dbdb389f4592	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, @DISEASE$, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+e6c23cff3168585cea4d2cb92e13ead4c5656f6f	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes @PHENOTYPICFEATURE$, behavioral abnormalities, @DISEASE$, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+6a5c4e5c7b96d9fee14ffbe91f6066afb0b6524e	Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, @DISEASE$, autism spectrum disorder, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+3dba7a289e61fce42d493ff556c2a68033bd68d0	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including @PHENOTYPICFEATURE$ type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+c34e996d7d28038d0434744e8aaf71dcbae9f3f9	Our results suggest that endocrinological causes for @PHENOTYPICFEATURE$ are variable in NS/LAH and that GH therapy should be considered as a possible treatment for delayed development in @DISEASE$.	has_symptom
+ca641e3f81a1002f7c7941329f2adccf7a02d072	Case 1 was a 43-year-old man who died of a @PHENOTYPICFEATURE$ due to malignant melanoma of the temporal lobe associated with @DISEASE$ (NCM).	has_symptom
+19fa148b4f39195cdb946e8b558b55ef7df73640	The authors discuss the case of a 14-year-old girl with @DISEASE$ who originally presented with intractable partial-onset @PHENOTYPICFEATURE$.	has_symptom
+bc9b17a5a1fd3f07fe3cce0b31c2da9e9d3b5bd6	The neuronal ceroid lipofuscinoses (@DISEASE$) are a group of inherited neurodegenerative diseases characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, seizures, @PHENOTYPICFEATURE$, and premature death.	has_symptom
+0986d3eb28056129c544339546e231c111906571	The neuronal ceroid lipofuscinoses (@DISEASE$) are a group of inherited neurodegenerative diseases characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, @PHENOTYPICFEATURE$, cognitive deficits, and premature death.	false
+fed80016e46fa38d36a98c20929e61beb89982ed	The neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited neurodegenerative diseases characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, @PHENOTYPICFEATURE$, @DISEASE$, and premature death.	false
+5ff6f7923ee05a4c4a407996a9b2fc2cb478c765	The neuronal ceroid lipofuscinoses (Batten disease) are a group of inherited @DISEASE$ characterized by the progressive intralysosomal accumulation of autofluorescent material in many cells, visual defects, @PHENOTYPICFEATURE$, cognitive deficits, and premature death.	false
+6b1d6dc737c518919623a2588ad22c6969a51328	Germline mutation of the @PHENOTYPICFEATURE$ suppressor PTEN in @DISEASE$.	has_symptom
+26d96184064a5bd02812a2b3d70d13ef7db33b7e	@DISEASE$ is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and hamartomatous @PHENOTYPICFEATURE$.	has_symptom
+d8012d563de6a27ee6d0a31c9d6f606fcbafc3f5	@DISEASE$ is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and @PHENOTYPICFEATURE$ tumors.	false
+f5ddf77bc2be8e9d5bb8a4c5c02e5b026362c3df	Proteus syndrome is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and @PHENOTYPICFEATURE$ @DISEASE$.	false
+ce99aca0134922a1702f0ee8e75fff913fa4e02e	@DISEASE$ (PS) is a rare and sporadic disorder characterized by overgrowth of multiple tissues and a propensity to develop particular @PHENOTYPICFEATURE$.	has_symptom
+fa2a8ee8c5d68bad0b48200bfabaf9a5ba0a6663	@DISEASE$: benign angiolipomatous @PHENOTYPICFEATURE$ with intraspinal extension.	has_symptom
+6c1ce87d72e4d281c8c49fd56bc02bd2d1fda70d	Other unusual @PHENOTYPICFEATURE$ in @DISEASE$ are discussed, together with their etiologic and pathogenetic possibilities.	has_symptom
+f146260b359761afafda8565a9fefa31bb28c4ff	Since there is not much experience with @PHENOTYPICFEATURE$ in @DISEASE$ we believe that this case can aid in shedding light on this subject.	has_symptom
+6f458a8dd7100c384034991f68d0ec6afc719e9c	We report on 2 children with @DISEASE$ who developed @PHENOTYPICFEATURE$.	has_symptom
+762cc0d6503de2d91fd3072aa7f23622eb55ef56	The features of @DISEASE$ were those of hyperplasia and @PHENOTYPICFEATURE$ of mostly mesodermal tissues.	has_symptom
+c662348daf7d9828435cd9f9457942969d27c657	@DISEASE$ is a recently described hamartomatous condition characterized by macrodactyly, hemihypertrophy, subcutaneous (s.c.) @PHENOTYPICFEATURE$, epidermal nevi, and skull anomalies.	has_symptom
+e93ddaa76fb44da28c40992f6a3369310bb7128b	They illustrate the 2 ways in which spinal compromise may develop in @DISEASE$--vertebral anomalies or @PHENOTYPICFEATURE$ infiltration.	has_symptom
+755199c5436e8b8c7b45fb16fad9da01977db498	They illustrate the 2 ways in which spinal compromise may develop in @DISEASE$--@PHENOTYPICFEATURE$ or tumor infiltration.	false
+6dde4e3c26f95ee1714d06395cd20a00be68c63a	They illustrate the 2 ways in which spinal compromise may develop in Proteus syndrome--@PHENOTYPICFEATURE$ or @DISEASE$ infiltration.	false
+2b3d25d3a2d33f1713a3cc8e2747af4d8acac427	The fact that Gilles de la @DISEASE$ is frequently associated with migraine, @PHENOTYPICFEATURE$, attentional or compulsive deficits, does not orient towards a specific cause.	has_symptom
+5676194075b6c7edd64014c4d69b4cc2790c5ef4	Risperidone treatment of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c1939d82318834e7f62aea0fff72740a3bc97bf8	The combination of chronic motor and vocal tics, @DISEASE$, may in some children be associated with thought and behavioral disorders, @PHENOTYPICFEATURE$, headaches, and school difficulties (e.g., attention deficit disorder).	has_symptom
+bcca3d20ddd15ca4c768ebfed69cec2c9d3c77ad	Developmental milestones, problems with bladder and bowel control, @PHENOTYPICFEATURE$, allergies, and handedness were compared in 247 consecutive @DISEASE$ (TS) patients, 17 patients with attention-deficit disorder (ADD), 15 patients with ADD secondary to TS (ADD 2(0) TS), and 47 random controls.	has_symptom
+e0b6cdc9c2a62a58917941fe177e47f1c1c7984b	@PHENOTYPICFEATURE$ are a common complaint in children with either @DISEASE$ (TS) or attention-deficit hyperactivity disorder (ADHD).	has_symptom
+9ade4ebbf943e7bc0ba3bbab8338420fb451313e	Known risk factors for uveitis include antinuclear antibody seropositivity, young age of @PHENOTYPICFEATURE$ onset, specific @DISEASE$ subtype and short duration of disease.	has_symptom
+2da30f86eb447793681307c4607091ec2c0b4979	Three months later, bilateral knee @PHENOTYPICFEATURE$ developed and she was diagnosed with @DISEASE$.	has_symptom
+f13c8d250828ac7ce746d93efdfed39206a9883d	Arthritis in children has many causes and includes septic and viral @PHENOTYPICFEATURE$, reactive arthritis and @DISEASE$ (JIA).	has_symptom
+ca5009b9d60f571717762254c3e57906ce0b47de	In @DISEASE$, this is particularly so for patients with systemic @PHENOTYPICFEATURE$ and polyarthritis with rheumatoid factor positivity who overall appear to have a poor prognosis.	has_symptom
+943ef3930aa2c01c66cb8452d39f2e8eaa5a17f3	To describe characteristics of patients with @DISEASE$ (JIA) presenting with isolated @PHENOTYPICFEATURE$ of the temporomandibular joints (TMJ).	has_symptom
+bb5a31abc250cb556c49d1c6e6a37bf3e2fe40a7	Patient perceptions of foot disability in @DISEASE$: a comparison of the juvenile @PHENOTYPICFEATURE$ foot disability index and the Oxford ankle foot questionnaire for children.	has_symptom
+f58b4740073e962f3cc2316df493f659be9e554d	Patient perceptions of foot disability in @DISEASE$: a comparison of the juvenile arthritis foot @PHENOTYPICFEATURE$ index and the Oxford ankle foot questionnaire for children.	false
+4c91458059acfb23575d83733fc45a60ecad5be6	Patient perceptions of foot disability in Juvenile Idiopathic Arthritis: a comparison of the juvenile @DISEASE$ foot @PHENOTYPICFEATURE$ index and the Oxford ankle foot questionnaire for children.	false
+00baaefb9868f6eeddaa46dc1d9af3b3c9a62d2d	Repeated MRI examinations are suggested in the follow-up of @DISEASE$ patients with cervical spine @PHENOTYPICFEATURE$.	has_symptom
+ca0199710e0a19fb25ff941a8ae1c2731ac821a8	Pentraxin 3 is a marker of early @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+a2f91fd4d3b837a2ebc6e1689aa35efccbb36bc0	Defining criteria for disease activity states in nonsystemic @DISEASE$ based on a three-variable juvenile @PHENOTYPICFEATURE$ disease activity score.	has_symptom
+e3515480c1c375c819351737adcec1feda20a8ad	The purpose of the study was to evaluate the clinical and magnetic resonance imaging (MRI) outcome of cervical spine arthritis in children with @DISEASE$ (JIA), who received anti-TNF? early in the course of cervical spine @PHENOTYPICFEATURE$.	has_symptom
+e52519f4f558e9714647a77607f2cca47e1dff3f	The purpose of the study was to evaluate the clinical and magnetic resonance imaging (MRI) outcome of cervical spine @PHENOTYPICFEATURE$ in children with @DISEASE$ (JIA), who received anti-TNF? early in the course of cervical spine arthritis.	has_symptom
+3bb027b9e2ed4c4ee33e3d7b9cd3baee7f10657a	It is reported on four girls aged 8 to 20 with @DISEASE$ (Ip) The ectodermal dysplasia was associated with oligophrenia, therapy resistant epilepsy with severe psychorganic syndromes and dementia, Lennox syndrome, lability of emotion with severe disorders of social adaptations, @PHENOTYPICFEATURE$, hypo- and areflexia, hemiathetosis, choreiform unrest, pathological EEG findings, including spike-potentials; relations to cleidocranial dysostosis, dysraphia, Poland's, Greig's and Chotzen's syndrome were found.	has_symptom
+6cdb252401d8ec509624e79fa9b20c99b02b70fd	We have experienced four cases with @DISEASE$ showing severe and progressive clinical manifestations, including skin @PHENOTYPICFEATURE$, nephrotic syndrome, acute kidney injury, and peripheral neuropathy.	has_symptom
+e8048bf530fda2c82e706b1bca07cb401437083c	We have experienced four cases with mixed cryoglobulinemia showing severe and progressive clinical manifestations, including skin @DISEASE$, nephrotic syndrome, acute kidney injury, and @PHENOTYPICFEATURE$.	false
+c16cc860071019e30dc0a884be275d119fe3e710	We have experienced four cases with @DISEASE$ showing severe and progressive clinical manifestations, including skin purpura, nephrotic syndrome, acute kidney injury, and @PHENOTYPICFEATURE$.	false
+af9edb4ec71660140ef33ba4bdda5952768617f1	We have experienced four cases with mixed cryoglobulinemia showing severe and progressive clinical manifestations, including skin purpura, nephrotic syndrome, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+187dcb1569a378a1f9a22cbf5c287403397d6ebc	We have experienced four cases with mixed cryoglobulinemia showing severe and progressive clinical manifestations, including skin purpura, @DISEASE$, acute kidney injury, and @PHENOTYPICFEATURE$.	false
+5bdf0b4cabfc85c56bd0dbb3f5e471831668c29f	@PHENOTYPICFEATURE$ and serum @DISEASE$ in psoriatic arthritis.	has_symptom
+a367d0587dba6e81946e5473cd0f90a0c9d1de57	@PHENOTYPICFEATURE$ and shoulder pain in a patient with @DISEASE$.	has_symptom
+03b171b2cb740b71b79f47b9a3181d9d605e2534	Hemorrhagic shock and encephalopathy syndrome (@DISEASE$) is characterized by abrupt onset of hyperpyrexia, encephalopathy(@PHENOTYPICFEATURE$ and coma), shock, diarrhea, disseminated intravascular coagulation, and renal and hepatic failure.	has_symptom
+3ea119e03c1af447a0afc6f06578c78cc4051410	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is characterized by abrupt onset of hyperpyrexia, encephalopathy(seizure and coma), shock, diarrhea, disseminated intravascular coagulation, and renal and hepatic failure.	false
+be74ac847c53277af08e3fa0dc78381570196bb0	Hemorrhagic shock and @PHENOTYPICFEATURE$ @DISEASE$ (HSES) is characterized by abrupt onset of hyperpyrexia, encephalopathy(seizure and coma), shock, diarrhea, disseminated intravascular coagulation, and renal and hepatic failure.	false
+ea9059ac4bb9707d64844cd978dd3004bf19976e	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES) is characterized by abrupt onset of hyperpyrexia, encephalopathy(@DISEASE$ and coma), shock, diarrhea, disseminated intravascular coagulation, and renal and hepatic failure.	false
+7fa526e35343c2534be8edcbaa0e243a06e1a52e	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES) is characterized by abrupt onset of hyperpyrexia, encephalopathy(seizure and coma), shock, @DISEASE$, disseminated intravascular coagulation, and renal and hepatic failure.	false
+8aa21fc46167ee3bc0ff94b9e4fb199b11561074	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES) is characterized by abrupt onset of hyperpyrexia, encephalopathy(seizure and coma), shock, diarrhea, disseminated intravascular coagulation, and renal and @DISEASE$ failure.	false
+34c22917a6c72ba10b7698c7129184896e171977	We report a case of a 60-year-old man with @DISEASE$, who presented with @PHENOTYPICFEATURE$ originating from the right temporal lobe refractory to maximal medical management.	has_symptom
+9bff0b95493880144d3ecc81f75683ec36f79ae1	The prognosis for patients with @DISEASE$ has been dramatically improved by the availability of specific antiviral therapy; sequelae in surviving patients may include severe neurological deficits, @PHENOTYPICFEATURE$, and/or neuropsychological dysfunctions that greatly impair quality of life.	has_symptom
+ba94a3d4409e9334914cf9840934b8b142b48085	Factors independently associated with @DISEASE$ were the absence of past neurological history (odds ratio [OR]?6.25 [95 % confidence interval (CI): 2.22-16.7]), the occurrence of @PHENOTYPICFEATURE$ (OR?8.09 [95 % CI: 2.73-23.94]),	has_symptom
+60d4623adb494ddbe8af4572b9e24f517aee8dbc	The patient developed @PHENOTYPICFEATURE$ 3 days after admission, at which time cerebrospinal fluid was significant for positive herpes simplex virus (HSV)-1 PCR but with a negative cell count, and acyclovir was started for @DISEASE$ (HSE).	has_symptom
+85116c71ab0972b4652744fc1ae2789c5c1fa21c	AE was classified into eight subtypes: acute encephalopathy with biphasic @PHENOTYPICFEATURE$ and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and encephalopathy syndrome (@DISEASE$); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	has_symptom
+1bd890ad0cc0a5824f1a9b51ffe94219eb4337a3	AE was classified into eight subtypes: acute encephalopathy with biphasic @DISEASE$ and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+3a24aac270e859d76ced3201a5961cf228f9cf3d	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ @DISEASE$ (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+7513c8ea96199ede48c86c5b443bc9e68ed1ae86	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+ccb12bcd1c01f5c354e89ae02671a8e677f69638	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES); clinically mild @DISEASE$/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+acb0c1a54a672dad9ab5848a9f9325571ad79785	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like @DISEASE$; and unclassified.	false
+b91132d3c31f509c7b9db09d0088a34ca497070d	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia @DISEASE$ (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+e8cde5267a0757009cc786265dde31ca1d020489	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+bb9a4eba49926835a093fc56720684a8754262db	AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-@DISEASE$ syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified.	false
+5b6336111ed3399be6f46bf9e7412329a89dcbe0	Hemorrhagic shock and encephalopathy syndrome (@DISEASE$) affects children under 1 year of age and is characterized by @PHENOTYPICFEATURE$, shock and certain laboratory abnormalities, including coagulation abnormalities.	has_symptom
+5086dbc9ec821079ad33d352c089f27274b4a7c8	Hemorrhagic shock and @PHENOTYPICFEATURE$ @DISEASE$ (HSES) affects children under 1 year of age and is characterized by seizures, shock and certain laboratory abnormalities, including coagulation abnormalities.	false
+9b5489f6ca8d205c1367fd549304bcc878281d27	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) affects children under 1 year of age and is characterized by seizures, shock and certain laboratory abnormalities, including coagulation abnormalities.	false
+ec61f064078931f6d7b6038b4e24f0f3715262ce	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES) affects children under 1 year of age and is characterized by @DISEASE$, shock and certain laboratory abnormalities, including coagulation abnormalities.	false
+5adcfd2e7586fd26ec176b4b75dc8b77bef1f3a6	@PHENOTYPICFEATURE$ and @DISEASE$ are two respiratory diseases characterized by chronic inflammation, leading to remodelling of the airways.	has_symptom
+08fcb9be3f06be967c2441e0be6800d97091a081	Abstracts from the seven groups of the Paediatric Assembly (Respiratory physiology, @PHENOTYPICFEATURE$ and allergy, @DISEASE$, Respiratory infection and immunology, Neonatology and paediatric intensive care, Respiratory epidemiology and Bronchology) are presented in the context of the current literature.	has_symptom
+1942acb2c41cdf5ddc59b66d1b4882e3a70ad8ae	Abstracts from the seven groups of the ERS Paediatric Assembly (Respiratory Physiology and Sleep, @PHENOTYPICFEATURE$ and Allergy, @DISEASE$, Respiratory Infection and Immunology, Neonatology and Paediatric Intensive Care, Respiratory Epidemiology, and Bronchology) have been chosen by group officers and are presented in the context of current literature.	has_symptom
+63a75c69953874990f7f5690f637363d9fd427eb	@PHENOTYPICFEATURE$ and @DISEASE$ (CF) have some identical manifestations.	has_symptom
+cf5b35ac7dbcaeaf07cb10c03b157753f5438147	Abstracts from the seven groups of the ERS Paediatric Assembly (Respiratory Physiology and Sleep, @PHENOTYPICFEATURE$ and Allergy, @DISEASE$, Respiratory Infection and Immunology, Neonatology and Paediatric Intensive Care, Respiratory Epidemiology, and Bronchology) are presented in the context of the current literature.	has_symptom
+a383299c925fb254c1ec3cc7d23fc33ebb8a3344	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @PHENOTYPICFEATURE$, corpus callosum agenesis and urinary tract anomalies.	has_symptom
+b65f596da292bb78832c3bd5df4e6a937cba2518	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and @DISEASE$ such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+fb88b4ceb92a5659b0e11fef3963a6801db06345	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @DISEASE$, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+f7696f2a9a7c375498442887ae0631989cc0e0f6	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+95b708ece72ddeda3d2bada6f5215849c9b1712b	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+c8372abb7bd4cbd3b944e8b2802b5ea3742577fd	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @DISEASE$, @PHENOTYPICFEATURE$ and urinary tract anomalies.	false
+1ae30e1fdc8dd66361c746d58f4738bd8166d902	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability @DISEASE$ characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, @PHENOTYPICFEATURE$ and urinary tract anomalies.	false
+18dcf27af082f8e51988631e9c6186d8d35d3fde	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, @PHENOTYPICFEATURE$ and urinary tract anomalies.	false
+708562a85aadc66dc7b3a3b3aebaf018414cc877	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ @DISEASE$ characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+1d30eff229ceeda17ed669e53aac09dd940fe86e	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and @DISEASE$ such as Hirschsprung disease, congenital heart defects, @PHENOTYPICFEATURE$ and urinary tract anomalies.	false
+17f8f0777e26c98d4016bf3cbdeccd127be46e1f	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, congenital heart defects, @PHENOTYPICFEATURE$ and urinary tract anomalies.	false
+1a1b7bbfcbc861e668eef0653c73f3a5c30ed671	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability @DISEASE$ characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+dc16011dd9a08ba9b63820ff45d41aba9ef3f344	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+9c7461707eb12536fc3fe0700e4ffa82befe7992	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and @DISEASE$ such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+e651603aa290acc2b3e0b9c08a3553bfb19d626c	Mowat-Wilson syndrome (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, @DISEASE$, corpus callosum agenesis and urinary tract anomalies.	false
+83021ee06e374b224605a394d7be0963a36d0010	@DISEASE$ (MWS) is an autosomal dominant @PHENOTYPICFEATURE$ syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies.	false
+c158441a736b8834268170bf944f712f77c7efd0	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	has_symptom
+ec9b085c9183fd89ca2615057b126d62fef23e33	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable @DISEASE$ including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+888d1f9e5e62e622fdb27dd23d53e2ded1342ef4	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including @DISEASE$ (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.	false
+88cffd30735d5b421ad820645e7fad9c2fe3cd94	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @DISEASE$, @PHENOTYPICFEATURE$ and eye anomalies.	false
+bf343f635df57f6d1c4ccd492dd152621c91ee62	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+3e22571a0a2c2f6c6dabd9b82426a27146f757e7	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including @DISEASE$ (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+439767938ba33835a11d3ea008c9ddac2def704b	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.	false
+148fe1194099b1e15a76d44d2c51b882a45f33f2	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+1d6fbfbb948bd91402cef6e371aa45dd85fc43a9	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @DISEASE$, agenesis of the corpus callosum and eye anomalies.	false
+7f36e47562e34affbf4a29c9bff9e030cb8c6679	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.	false
+723e6529d55b6da57a1e05cea009d3ed87be5248	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable @DISEASE$ including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.	false
+a4a90270529e98608c080160ca85573aa106936b	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+e10573ad7d69ee345ee3b752dd403d0542b187c8	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.	false
+f001616df3c5cd8609d47d72cc82316ac128a8b1	@DISEASE$ (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and @PHENOTYPICFEATURE$, caused by haploinsufficiency of the ZEB2 gene.	has_symptom
+f44912cde734c6bc46644579081259516032d0f6	Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe @PHENOTYPICFEATURE$, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and @DISEASE$, caused by haploinsufficiency of the ZEB2 gene.	false
+07f0f6b97be83a2025f41d940d3934b3084c3ce0	@DISEASE$ (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe @PHENOTYPICFEATURE$, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene.	false
+a5b9fd107a56baf6c1d1dca4d5add766d993e79f	Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe @PHENOTYPICFEATURE$, and @DISEASE$, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene.	false
+ff0c36ed14c98f25eade3e235592a3c61a1a4446	Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe @PHENOTYPICFEATURE$, and congenital malformations, including @DISEASE$, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene.	false
+5251b972ae1123a9e719c5bab82ebb0343b988e3	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	has_symptom
+ba7848f0e8990db7afe256697934ed97c20ccbba	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+37f001217840c9540261f3c4f26f4801937a33b3	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+66a5fc3337ed118d5659b4d294a7c9e15a11192d	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+97923441c8efa264aa99ed781e5b625d7771335a	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/renal anomalies.	false
+6ad2489d942fd1274eb7816de4607ed9792c094c	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+25e7db6b28a987c3148df0b605e317a1aa0700f6	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+7969a0ea8d05b2f8673609c51bdc2f73b9f1c1e3	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/renal anomalies.	false
+912cf7c0e3f077adf19012bb8397ea657349b121	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+f34e1da715526cbb3b1f5429711ab9f109a4c6cd	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @DISEASE$, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+536eb25ce81b353045aceded7cbd7086c11c171f	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @DISEASE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+6f1cca1dcb00d281882a143ea3ad4c9a43f378cf	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+feb07043c07359165a87668a4978f2a09021f18c	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+eca3238cebd72f517bbd40bf77ec2dbe206ee6e0	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+cbe8fa6ab905fce831c13ef619b7214f0e8c734e	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, @DISEASE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+4bb2d36db2132683fc30d1bb2c367a1ca5de1f2f	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/@PHENOTYPICFEATURE$.	false
+8a2e56e6fe6545baef89fdeb438c9813b9ad6d4c	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	has_symptom
+4ec39c5325f7b3354ddfea9e8d3d378300237d8d	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+2e01a826dd43d384fa36d071c7f0da2ac20dd0ae	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+0689bcc63ae48759d3a694427626c25888122be1	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+4edc941c92b37505e35ca0f9bd409554f3c1124e	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @DISEASE$, @PHENOTYPICFEATURE$, and eye defects.	false
+4904d43aaf0bdd8dd5d66b2a7ab5439d209542c2	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+cac85727db16418cdfed5ebb0c9d51dc104bb94e	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+05f2ac5c962c00a299932deb5236090f59884e57	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+3563e8f7dc966ef1ce79f447f5335c9c66092ec5	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+ad7270fc9b6e8bf919e12ee19e456505125ceca1	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @DISEASE$, agenesis of the corpus callosum, and eye defects.	false
+94e1c099701c2167652ffb0111f9d98afd828c4a	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), @DISEASE$, agenesis of the corpus callosum, and eye defects.	false
+9032d4cfcdd25b8472c82055b559d4e15492985f	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+97a9429c38eb2ac23fe895c7b32731e91ab99e0e	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+0cf662a951edee013ebba4894408a7e04772a94d	@DISEASE$ (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	has_symptom
+c4b626118732c29d60bdbb95ae9c010ee7876e66	@DISEASE$ (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+003dcb708ff9b00230a847522c3c90e18e51326d	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @PHENOTYPICFEATURE$ and eye defects.	false
+808056300e2556f35556d349c411845aea6546cc	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @DISEASE$, agenesis of corpus callosum and eye defects.	false
+a507ddadf766200fcca5831f68e922394329c870	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @PHENOTYPICFEATURE$ and eye defects.	false
+b8919203690d10f3d2205497e1e19aed5f29ca94	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+da0cdf4a5f439683edf7d08bb75ba55d77babbd4	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, congenital heart defects, @PHENOTYPICFEATURE$ and eye defects.	false
+6867aea179b2f2de9367fbf418986982d3191ac3	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+5a3bd38838b5f46f75573aaf8e5889d6210d0402	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+999b13b9a356f677f27d829b4a19b10dc9bfafb9	@DISEASE$ (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @PHENOTYPICFEATURE$ and eye defects.	false
+36f761be4f622d87409f5c6aaee75317b7dd976f	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @DISEASE$, @PHENOTYPICFEATURE$ and eye defects.	false
+16bd72457998f6ae8b8236ee8e638626371a1eb7	Patients with @DISEASE$ have characteristic otologic features due to cartilaginous and subcutaneous tissue abnormalities and typically demonstrate low-frequency @PHENOTYPICFEATURE$ despite largely normal tympanometry.	has_symptom
+72e330f35a8dd3e00f2f27e39b1f9baf5d32e441	The @DISEASE$ (RRS) is characterized by hearing loss, mental deterioration, @PHENOTYPICFEATURE$, primary hypogonadism and autosomal recessive transmission.	has_symptom
+0fdfb37e22ab895d50cf0d7f93445117b0870536	The Richards-Rundle syndrome (@DISEASE$) is characterized by hearing loss, @PHENOTYPICFEATURE$, ataxia, primary hypogonadism and autosomal recessive transmission.	false
+2870fafa4bfc7748a7a180fe19701435087d456a	The Richards-Rundle syndrome (RRS) is characterized by hearing loss, @PHENOTYPICFEATURE$, ataxia, primary @DISEASE$ and autosomal recessive transmission.	false
+06aff040a6231454cbd284cd6557d5a017de6aee	The @DISEASE$ (RRS) is characterized by hearing loss, @PHENOTYPICFEATURE$, ataxia, primary hypogonadism and autosomal recessive transmission.	false
+11db305b77c1cd9c54ca6d3bfd27752a5f2b19dd	The Richards-Rundle syndrome (RRS) is characterized by hearing loss, @PHENOTYPICFEATURE$, @DISEASE$, primary hypogonadism and autosomal recessive transmission.	false
+2760d985c82ee616d962df12601b4c5d3469d53f	The Richards-Rundle syndrome (RRS) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, ataxia, primary hypogonadism and autosomal recessive transmission.	false
+9ab4238825a5fa587b9a70f88d71bf1ca9ef779d	Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of @DISEASE$, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, deafness, @PHENOTYPICFEATURE$, wasting of muscles and reduced jerks.	has_symptom
+66a07ebcfd06dec3d4dda07f5c5e700f662c54e2	Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of Richards Rundle syndrome, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, @PHENOTYPICFEATURE$, @DISEASE$, wasting of muscles and reduced jerks.	false
+9f27fc63ddd3bee9f1c6c94ccda7a8edd5ffdae3	Among 43 female patients aged 17-46 years with almost severe oligophrenia there were four with primary hypogonadism, one of them a case of @DISEASE$, now aged 20 years with absence of secondary sex characters, hypoplastic genitals, @PHENOTYPICFEATURE$, ataxia, wasting of muscles and reduced jerks.	false
+4b8165b2b922cb4a17ced1af640bc5236c44a7b2	The association of these two entities has been described in several rare syndromes: Homes @PHENOTYPICFEATURE$, Boucher-Neuhauser syndrome and @DISEASE$.	has_symptom
+ea745d3b14ac65ff4156f14f3aaa577676987f7c	@DISEASE$ (KLS), also called "Sleeping beauty syndrome" is a rare, disorder predominantly reported in adolescent males, characterized by recurrent episodes of hypersomnia and to various degrees, @PHENOTYPICFEATURE$, cognitive disturbances, and hypersexuality.	has_symptom
+b53fe27a2925e5f2be6e437726959580f39bb9ac	Kleine-Levin syndrome (KLS), also called "Sleeping beauty syndrome" is a rare, disorder predominantly reported in adolescent males, characterized by recurrent @PHENOTYPICFEATURE$ of hypersomnia and to various degrees, @DISEASE$, cognitive disturbances, and hypersexuality.	false
+63678a71a0a5a46768766cdf14744ac7f049cdcc	Kleine-Levin syndrome (KLS), also called "Sleeping beauty syndrome" is a rare, disorder predominantly reported in adolescent males, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and to various degrees, @DISEASE$, cognitive disturbances, and hypersexuality.	false
+dbcf1dd7fc4bb9135f47673cefe5c864b53b510e	@DISEASE$ (KLS), also called "Sleeping beauty syndrome" is a rare, disorder predominantly reported in adolescent males, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and to various degrees, hyperphagia, cognitive disturbances, and hypersexuality.	false
+67eb933f016a90a8e2f2212f8aa6fbbce526cf2e	@DISEASE$ (KLS), also called "Sleeping beauty syndrome" is a rare, disorder predominantly reported in adolescent males, characterized by recurrent @PHENOTYPICFEATURE$ of hypersomnia and to various degrees, hyperphagia, cognitive disturbances, and hypersexuality.	false
+d78314c80ccd814078f99c1e79b225bf12a1281e	@DISEASE$ (NPS) is characterized by developmental defects of dorsal limb structures, nephropathy, and @PHENOTYPICFEATURE$ and is caused by heterozygous mutations in the LIM homeodomain transcription factor LMX1B.	has_symptom
+a89727d0cd74ef1bed63c7b6ded47a23a5676ef2	Of the 9 @DISEASE$ patients with a Glasgow @PHENOTYPICFEATURE$ Scale score > or = 11, all patients recovered completely.	has_symptom
+621ebe259f95398e5775b84f1a24796cb8c408ac	@PHENOTYPICFEATURE$ in the @DISEASE$: report on four new cases.	has_symptom
+fa35e3521ce59bd880e18bebd90b8179b34f0b47	We report on four new cases of @DISEASE$ with typical manifestations of this X-linked inherited condition and note a hitherto undescribed sign, @PHENOTYPICFEATURE$.	has_symptom
+0b2261e4add836acc8f780a0496a88d25d7ff0ad	He is the fifth patient to be presented with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+272bc5e4f06744db8aaad448bc36ab5182c88e76	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by edematous @PHENOTYPICFEATURE$, cerebral calcifications, and parenchymal cysts.	has_symptom
+94286be11118b7bed01b77574445bac0e2554615	@DISEASE$ (LCC) is an uncommon entity characterized by edematous @PHENOTYPICFEATURE$, cerebral calcifications, and parenchymal cysts.	has_symptom
+5aaa13cb5f1364d0080ef28a17ee2ef87d9c63cf	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, cerebral calcifications, and parenchymal cysts.	false
+c20055b7d4f8544bb2830acf61a0a1d96ce1326d	@DISEASE$ (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, @PHENOTYPICFEATURE$, and parenchymal cysts.	false
+2e5058dd3eedcb95e5dae597da92296db28c8b54	Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by @PHENOTYPICFEATURE$ @DISEASE$, cerebral calcifications, and parenchymal cysts.	false
+28d1a7bcc15ab8deef17746af9f3b743dfd010b6	Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous @DISEASE$, @PHENOTYPICFEATURE$, and parenchymal cysts.	false
+e4a8d5fee6a36233b320bd15572b0f5ffa24ea0d	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by edematous leukoencephalopathy, @PHENOTYPICFEATURE$, and parenchymal cysts.	false
+be492c0a1eb05c2d454e0eb6cbf776f984c606e4	@DISEASE$ (LCC) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, cerebral calcifications, and parenchymal cysts.	false
+7fdc2711d49ff0133ed46d873bc2d960c3644841	Bilateral @DISEASE$, @PHENOTYPICFEATURE$ and lens opacities in a woman.	has_symptom
+62fc29bafc4fb0869ad3592ce601f8fa9e066c3f	Bilateral @DISEASE$, glaucoma and @PHENOTYPICFEATURE$ in a woman.	false
+dd99341efc537283659353a5d5a075e885baea3e	Bilateral aniridia, @DISEASE$ and @PHENOTYPICFEATURE$ in a woman.	false
+c0edcf37afafdb0c753d3a64fa1f705e9eaadb1a	@PHENOTYPICFEATURE$ and frequency of ocular and general diseases in 30 patients with @DISEASE$: a clinical study.	has_symptom
+4961f5d1d8297a0ff369b913ba53f3ae9a07894a	Four of the eight individuals studied had @DISEASE$ associated with @PHENOTYPICFEATURE$ and cataracts.	has_symptom
+c4b347dd8ae936a1903efd554780eee88a69306c	Four of the eight individuals studied had aniridia associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bd6b41f2c64fe4eb547525f817714d48d082d1eb	Four of the eight individuals studied had @DISEASE$ associated with glaucoma and @PHENOTYPICFEATURE$.	false
+d6aae6e65169c14a5d11d0d37e688de359167926	[A case of @DISEASE$, @PHENOTYPICFEATURE$ and hypodontia].	has_symptom
+6aa1a50e3b719bd8e40383ac240c10b7d6c23cf0	[A case of @DISEASE$, glaucoma and @PHENOTYPICFEATURE$].	false
+924e3cc62dc7119f7968bb9f66ddea393ff1cad8	[A case of aniridia, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+b9cf63f432bd134e429bea4582dcf617969a30bc	@PHENOTYPICFEATURE$ Management in Patients With @DISEASE$ and Boston Type 1 Keratoprosthesis.	has_symptom
+9cf9010433cdae484f4f45e1a9ee7b0c52fad03f	Child L, with no particular family history, had presented bilateral @DISEASE$ complicated by bilateral @PHENOTYPICFEATURE$ since birth.	has_symptom
+a38547ba9fd4c8fd93093ecf5c709a5ea3e3eaed	ExPRESS Shunt Surgery for @PHENOTYPICFEATURE$ with Post-Traumatic @DISEASE$.	has_symptom
+5159ad12fb683f3952cfbf338ed45840994bbdef	@DISEASE$ with extopia lentis and secondary @PHENOTYPICFEATURE$; genetic, pathologic, and surgical considerations.	has_symptom
+3a81d556e036b33e7d54f8079dba02fd334ff137	@PHENOTYPICFEATURE$, malformations of the entire eye and systemic malformations are associated with @DISEASE$.	has_symptom
+7c4ee63b380d75602a35dbb042bf6711bae4a6eb	His four-year-old sister had bilateral complete @DISEASE$, @PHENOTYPICFEATURE$, and a corneal ulcer.	has_symptom
+13edfe71c10f88e4159108d72eca868885a3259b	Multiple @DISEASE$ (MPHD) is a known cause of familial @PHENOTYPICFEATURE$.	has_symptom
+e24e478420405a2b71f6b5d7dee71f0dbf2ea869	We undertook the present study to determine the effects of @PHENOTYPICFEATURE$ versus those of @DISEASE$.	has_symptom
+680c6267d74f8dda167fe96101f13b79452db0fa	We describe a boy who presented at the age of 7 years with @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+6f585f1fd33819f199eaca467fcb54862b1dad1b	Findings of this study suggest that accompanying anterior @DISEASE$ and @PHENOTYPICFEATURE$ may be considered as indicators of organic etiology.	has_symptom
+a24c49c9cf8367a19a7582c8785fbebb1ea929a8	Combined @DISEASE$ (CPHD) diseases result in severe outcomes for patients including @PHENOTYPICFEATURE$, developmental delays, and reproductive deficiencies.	has_symptom
+69b85c9dd913d3d444a753f5fe447b31cafab349	We report a case of 10-year-old male with @PHENOTYPICFEATURE$ due to GH deficiency diagnosed with @DISEASE$.	has_symptom
+c065186a3de57abd7aab4581806638fb84be2b48	[Somatomedin activity in patients with @PHENOTYPICFEATURE$ due to @DISEASE$ or constitutional-familial growth retardation].	has_symptom
+d624c34f47e2597b01c284ad037a629807e0ab8f	[Somatomedin activity in patients with short stature due to @DISEASE$ or constitutional-familial @PHENOTYPICFEATURE$].	false
+a4524f16ce58db9729ec926e8d143cbc493f84ca	[Somatomedin activity in patients with @DISEASE$ due to hypopituitarism or constitutional-familial @PHENOTYPICFEATURE$].	false
+63d15cc6b252e07ca3bccf5f9f1726d60274ba9a	@DISEASE$ explains the protracted hypoglycemia and the @PHENOTYPICFEATURE$.	has_symptom
+de75e3599991866c26703688be1e1ed389129229	Endocrinological investigations were performed to prove if @PHENOTYPICFEATURE$ is due to @DISEASE$.	has_symptom
+1a02fb5af622991ed193948bdf1fcd6b917d48e2	These anomalies include @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis.	has_symptom
+e3ede3d90de59c6abebe7d3ca0fda39dcf611aab	These anomalies include @DISEASE$, pituitary insufficiency, @PHENOTYPICFEATURE$, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis.	false
+3023075b6503db54b5e8a4f588af94a11c629540	These anomalies include short stature, @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis.	false
+0df12c8cb63816a9a4a7dcc00a6b6ec687a60ac0	Exome sequencing of a 6-year-old female patient with @PHENOTYPICFEATURE$, developmental delay, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of @DISEASE$ (BOS).	has_symptom
+c9ee37524b87a2435d71b79c3473236cdec26c3e	Exome sequencing of a 6-year-old female patient with seizures, @PHENOTYPICFEATURE$, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of @DISEASE$ (BOS).	false
+652e59a3e592b09fa5a39854b4835d471d323d2f	Exome sequencing of a 6-year-old female patient with @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS).	false
+b8f8e000ded0dab8f0df69850ff5e5306fabb64a	Patients with @DISEASE$ (mucopolysaccharidosis II) present with skeletal dysplasia including @PHENOTYPICFEATURE$ as well as CNS and visceral organ involvement.	has_symptom
+128653a452fffd3a0eb1ed036756d01f46e370fd	Patients with @DISEASE$ (mucopolysaccharidosis II) present with @PHENOTYPICFEATURE$ including short stature as well as CNS and visceral organ involvement.	false
+36bb6b30ebcf956af2b8c87c330e20ce8c54f5a8	Patients with Hunter syndrome (@DISEASE$ II) present with @PHENOTYPICFEATURE$ including short stature as well as CNS and visceral organ involvement.	false
+eb919de2ce128cdbdeb4cb552dc5886db186fd50	Patients with Hunter syndrome (mucopolysaccharidosis II) present with @PHENOTYPICFEATURE$ including @DISEASE$ as well as CNS and visceral organ involvement.	false
+adeff6facf04c90e75646f9937c42a3456b7f007	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, @PHENOTYPICFEATURE$, sleep apnea, and behavior problems.	has_symptom
+24ff384ee22940b61d02822baead5acf82af302e	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, @DISEASE$, @PHENOTYPICFEATURE$, and behavior problems.	false
+9c84596a57d3d19bb41c814955aaa79fc0b6892e	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, macrocephaly, bone dysplasia, @DISEASE$, sleep apnea, and behavior problems.	false
+d0c5fed32692d41df95c04414780942dbc763f34	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @PHENOTYPICFEATURE$, bone dysplasia, @DISEASE$, sleep apnea, and behavior problems.	false
+05b646faf8ea3fbb328ab05a3ed7d91494d1dd36	Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, macrocephaly, bone dysplasia, @DISEASE$, sleep apnea, and behavior problems.	false
+aecda5ab3398bac3eb1cc19ef1ec4edd62c4cb19	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, @PHENOTYPICFEATURE$, and behavior problems.	false
+51449dc0101fb38ca7a8d2dec0eaad74a92b9c34	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, @PHENOTYPICFEATURE$, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+3ec3bd4bb6a8309299c06de7f28d03b36c50f5a9	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+2c8f244b607390c3c2846cbe8dd5289c92d2fb58	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+b78f7347a8e3f8cdb7240b49a98a42f3fefcb492	Patients with Maroteaux-Lamy syndrome or @DISEASE$ showed improvements in hepatomegaly, joint contractures, @PHENOTYPICFEATURE$ and tight skin, and this greatly increased their quality of life.	has_symptom
+e4d72151d68bad24df7cd2f2a1156288881fe985	Patients with Maroteaux-Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, @PHENOTYPICFEATURE$, @DISEASE$ and tight skin, and this greatly increased their quality of life.	false
+79287ae87362ca120f9070afc424dee260e0d394	Patients with Maroteaux-Lamy syndrome or @DISEASE$ showed improvements in hepatomegaly, @PHENOTYPICFEATURE$, short stature and tight skin, and this greatly increased their quality of life.	false
+5b6a5b60e9cb9a8b6075f5a02fa8cfd5e38872b6	Patients with @DISEASE$ or Hunter syndrome showed improvements in hepatomegaly, @PHENOTYPICFEATURE$, short stature and tight skin, and this greatly increased their quality of life.	false
+6cee6c9a485b4b9eef2fc34336089c832d458eb9	Pituitary function studies were performed in a patient with mild @DISEASE$ (mucopolysaccharidosis type IIB, MPS IIB) in order to exclude growth hormone deficiency as a possible contributing cause of his @PHENOTYPICFEATURE$.	has_symptom
+37567dd5e008881a35c084fb5cb093de797069dc	In a resource poor setting, we report a case of @DISEASE$, severe subtype, based on global development delay, coarse facies, @PHENOTYPICFEATURE$, hepatosplenomegaly and dysostosis multiplex on X-ray with unusual large congenital inguinal hernia.	has_symptom
+3f3341524fc2c0c59c32557cd2d330e49c4a20c6	@DISEASE$ is associated with the accumulation of fat in multiple organs and tissues, which results in specific clinical features including cardiomyopathy, cardiomegaly, @PHENOTYPICFEATURE$, and hepatic dysfunction in infants.	has_symptom
+0900f70549bb592b1a2171275a498612d3df66ad	In three patients with @DISEASE$, this treatment led rapidly to clinical improvement that included the permanent disappearance of chronic cardiomyopathy, rhabdomyolysis, and @PHENOTYPICFEATURE$ (for more than 2 years in one child), and of rhabdomyolysis and weakness in the others.	has_symptom
+970b0bcdb25b64b06051eac7a1ecf110e39cc7c6	We describe a patient with @PHENOTYPICFEATURE$ and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called Albright Hereditary Osteodystrophy-like syndrome or @DISEASE$, OMIM 600430).	has_symptom
+82e08fd21a785376fac0ed4007ec993907185f7e	We describe a patient with @PHENOTYPICFEATURE$ and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called @DISEASE$ or Brachydactyly-Mental Retardation syndrome, OMIM 600430).	has_symptom
+391a10f9c24f449269cbb70da4e03fdd310136c7	Syndrome of @PHENOTYPICFEATURE$, microcephaly, mental retardation, and multiple epiphyseal dysplasia--@DISEASE$.	has_symptom
+a5aec2b0ee799112faf0a6ac22b1a5686f5d4efe	Syndrome of short stature, microcephaly, @PHENOTYPICFEATURE$, and multiple epiphyseal dysplasia--@DISEASE$.	false
+9d848ba3ac0763fe48b61c8d0519746fe17a483b	Syndrome of @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.	false
+a67149ec945989a28db776cf7b5277f0f686bf88	Syndrome of short stature, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$--Lowry-Wood syndrome.	false
+4f826eb39c07ffdede17b2adfaea26f4e77ef6dc	Syndrome of short stature, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$--Lowry-Wood syndrome.	false
+d02f23030f8acf485ae1e6ea2f4222f969357782	Syndrome of @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.	false
+83559032ea7b1fa1f547f6f1a40a637e4836746a	Syndrome of short stature, @PHENOTYPICFEATURE$, mental retardation, and multiple epiphyseal dysplasia--@DISEASE$.	false
+284b4121e9543a58b6c44733614de4dec4ad92fe	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: microcephaly, @PHENOTYPICFEATURE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	has_symptom
+400291f3685cc728941149c48be32ca7b941792a	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: @PHENOTYPICFEATURE$, short stature, @DISEASE$, tapetoretinal degeneration, and mental retardation.	false
+d1de0a6bfbd134cb8be15dbd578de2bc843f3eba	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: @PHENOTYPICFEATURE$, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	false
+bc3a7762f44cd9e944cf342f01cacf78d52f24c1	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: @PHENOTYPICFEATURE$, @DISEASE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation.	false
+5b58c9560ffabe9518f6b68032eea066d9013a68	We report on the case of a 17-year-old boy with clinical features compatible with @DISEASE$: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	false
+14644e9239168cafd71999211277e2003891241f	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, short stature, @DISEASE$, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	false
+2d7df323b0612775f909b646c40d46278bfc2291	We report on the case of a 17-year-old boy with clinical features compatible with Lowry-Wood syndrome: microcephaly, @DISEASE$, multiple epiphyseal dysplasia, tapetoretinal degeneration, and @PHENOTYPICFEATURE$.	false
+e1aa37fe68a6f4b8e2c80d52941f09034a8cb20e	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, microcephaly, @PHENOTYPICFEATURE$, and mental retardation).	has_symptom
+52141c0eb36abcbffebf3cf44d378e47422ee6e2	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, @PHENOTYPICFEATURE$, short stature, and mental retardation).	false
+33f81b626b54b9cce5f60691ba98bc5fbdfdb331	This constellation of findings similar to that found in the @DISEASE$ (Epiphyseal dysplasia, microcephaly, short stature, and @PHENOTYPICFEATURE$).	false
+a5bd015ffdb1f818525f9e71bfdfc267ef458757	This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+d65c70123cc05c1c13ae9744d6ed8452a739e3fc	This constellation of findings similar to that found in the Lowry-Wood syndrome (Epiphyseal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation).	false
+b3f3a4f3eb8962b20278fd88fabf5f5f02143f66	Antenatal ultrasound study at 29 weeks of gestation showed a large head, very @PHENOTYPICFEATURE$, and a small chest; the findings were more severe than in achondroplasia or @DISEASE$ alone.	has_symptom
+7497658049d9663919bd47a327e977e3d64a0ffc	Antenatal ultrasound study at 29 weeks of gestation showed a @PHENOTYPICFEATURE$, very @DISEASE$, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone.	false
+6d7bd3b536eb3035c413939dd939fb43b00976bc	Antenatal ultrasound study at 29 weeks of gestation showed a @PHENOTYPICFEATURE$, very short limbs, and a small chest; the findings were more severe than in achondroplasia or @DISEASE$ alone.	false
+71eed91c9784bf202bbde775cb2453029c4def9a	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, @DISEASE$, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome.	has_symptom
+e84141afc4d4576fe04d53ed452845734d7bc3f2	Together with his small size, @PHENOTYPICFEATURE$ and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of @DISEASE$.	has_symptom
+4611d13abbf490117c1bb82ac3367f8847846a33	Achondroplasia (ACH) and @DISEASE$ (HCH) are the most common form of @PHENOTYPICFEATURE$ skeletal dysplasias caused by activated fibroblast growth factor receptor 3 (FGFR3) signaling.	has_symptom
+2df1c73707535042beb3713bed19ffd3c496d495	@DISEASE$ (familial @PHENOTYPICFEATURE$).	has_symptom
+661e4c4f3a7d0dd4da2559246bd7cf1a898f9978	We report on a 16-day-old male with metabolic acidosis, @PHENOTYPICFEATURE$, hyperuricosuria, and nephrocalcinosis caused by @DISEASE$.	has_symptom
+54375f338df583401d705ea19a1e8323cc7c91d8	@DISEASE$ is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked @PHENOTYPICFEATURE$ and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood.	has_symptom
+cc4ee96902ef953e2e10770e1d8c6934c961e663	Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the @DISEASE$ which is characterised by @PHENOTYPICFEATURE$, mental retardation, choreoathetosis and compulsive self-mutilation.	has_symptom
+863f67ce205bc315b039ae94843687e9e35062f9	Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the Lesch-Nyhan syndrome which is characterised by @DISEASE$, @PHENOTYPICFEATURE$, choreoathetosis and compulsive self-mutilation.	false
+eae485abf5c5ff54f300b3280941aa33fec0d97e	Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the @DISEASE$ which is characterised by hyperuricaemia, @PHENOTYPICFEATURE$, choreoathetosis and compulsive self-mutilation.	false
+0beb85c71ed795217adcede32486e4565cae8871	Gastrointestinal polyposis with protein-losing enteropathy, @PHENOTYPICFEATURE$ and loss of hair and nails (@DISEASE$).	has_symptom
+55fbef97b725280e6d6c524f3b64b2e79297fee8	The @DISEASE$ -- a highly lethal autosomal recessive syndrome of @PHENOTYPICFEATURE$, micrognathia, low birth weight, and joint deformities.	has_symptom
+6713c2813113cc968594b54e0990c6717fa8de58	The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of @DISEASE$, @PHENOTYPICFEATURE$, low birth weight, and joint deformities.	false
+0dc80b9740c4d87f7195cf08ba2c1740efc082fb	The Bowen-Conradi syndrome -- a highly lethal autosomal recessive @DISEASE$ of microcephaly, @PHENOTYPICFEATURE$, low birth weight, and joint deformities.	false
+fd3f54663ac2c6f0fdd0853182fe5dc277c84633	The @DISEASE$ -- a highly lethal autosomal recessive syndrome of microcephaly, @PHENOTYPICFEATURE$, low birth weight, and joint deformities.	false
+8696fe325400fef968bfc381c1491fb1f956eaeb	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, seizures and facial features reminiscent of Amish @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+68711282eeb3ca00860326176f4d261de7bc02d5	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, @PHENOTYPICFEATURE$ and facial features reminiscent of Amish microcephaly and @DISEASE$.	false
+7c0d21994d6b5ed0a89d719a66f80379699b2506	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, @PHENOTYPICFEATURE$ and facial features reminiscent of Amish @DISEASE$ and Bowen-Conradi syndrome.	false
+2452d58fd39e06544473d75c6cbdaf79f064c180	Symptoms include low birth-weight and length with disproportionately small head, fetal distress, apnea, @PHENOTYPICFEATURE$ and facial features reminiscent of @DISEASE$ microcephaly and Bowen-Conradi syndrome.	false
+5ad94d318892935f10058f9a96bbd6c653556503	@DISEASE$ (IgAV) commonly occurs in young children, who present with a tetrad of purpura, @PHENOTYPICFEATURE$, arthralgia and nephritis.	has_symptom
+bd028742e941df2c41a9a3624cca66bdf5beb25e	@DISEASE$ is a systemic small vessel leukocytoclastic vasculitis characterized by skin purpura, arthritis, @PHENOTYPICFEATURE$ and nephritis.	has_symptom
+c830d82d76877e54bb9239e5b70fbf51360e9965	IgA vasculitis is a systemic small vessel leukocytoclastic vasculitis characterized by skin @PHENOTYPICFEATURE$, @DISEASE$, abdominal pain and nephritis.	false
+d6d983e8e671158068744d17437a59bee18d4fcd	IgA vasculitis is a systemic small vessel leukocytoclastic vasculitis characterized by skin @PHENOTYPICFEATURE$, arthritis, abdominal pain and @DISEASE$.	false
+0bfe6dcd64942187a0c5b70d9918925bad4b2091	IgA vasculitis is a systemic small vessel @DISEASE$ characterized by skin @PHENOTYPICFEATURE$, arthritis, abdominal pain and nephritis.	false
+46c1d3efe4315e1e4a8adbc75bcaa7865657d5e6	IgA vasculitis is a systemic small vessel leukocytoclastic vasculitis characterized by skin @PHENOTYPICFEATURE$, arthritis, @DISEASE$ and nephritis.	false
+8ac4ecc12830a44e387bb2e472429438533905de	@DISEASE$ is a systemic small vessel leukocytoclastic vasculitis characterized by skin @PHENOTYPICFEATURE$, arthritis, abdominal pain and nephritis.	false
+a34d0e055397ab2e18bd3484531072e280800d37	@DISEASE$ (Henoch-Sch?nlein purpura) is an immunoglobulin A-mediated vasculitis of unknown cause, which is characterized by non-thrombocytopenic purpura, arthralgia, @PHENOTYPICFEATURE$, and glomerulonephritis.	has_symptom
+88b0ab9851f4ec142ab6528b109281e3787f77f5	@DISEASE$ was found to be associated with @PHENOTYPICFEATURE$ (P = 0.008), whereas the non-IgA vasculitis group was associated with headache (P = 0.052).	has_symptom
+138a75c582fe2ae2b8d7e2b84e01f643b12b3e17	IgA vasculitis was found to be associated with @PHENOTYPICFEATURE$ (P = 0.008), whereas the non-@DISEASE$ group was associated with headache (P = 0.052).	has_symptom
+a794a5c4486385d9bfc9ea1b8280f392aa4a4b66	It could be shown that therapy with @DISEASE$ inhibitors ameliorates the progressive left @PHENOTYPICFEATURE$ and that this effect is translated into a significant increase of life expectancy.	has_symptom
+6ad53dafe67baee4953740e23bcbbd6bdd6ff1f3	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @PHENOTYPICFEATURE$, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	has_symptom
+b5e35785e12c5451802d390dcb55cfd3944ff7c1	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for @DISEASE$.	false
+12b3a137cca678b58b2c3500985c0ea104a6c16a	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	false
+e38bf8a6003cd6f4fa8749a3280e07660fb09465	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @DISEASE$, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for Apert syndrome.	false
+d9c85bc2d3f8d470eee11c683f5b35d28f2a7ef2	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @DISEASE$, suspicion of partial agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for Apert syndrome.	false
+3cd72fc064dd90cf9e81e90432fdbf9928f33a4e	Shunting is rarely required in @DISEASE$ patients, confirming a predominantly nonprogressive @PHENOTYPICFEATURE$.	has_symptom
+ebe5804fc03d006208024e7a2585cfa72a58dab2	@DISEASE$ patients may develop peri-orbital oedema, conjunctival haemorrhages, splinter haemorrhages of the fingernails, and nonspecific @PHENOTYPICFEATURE$.	has_symptom
+acb994f966759eacd86684988256cf52327ca3a6	In this family @DISEASE$, and @PHENOTYPICFEATURE$ occurred together as an apparent autosomal recessive syndrome.	has_symptom
+7094b2ff43e17b3925e65f044edcca524c420574	Familial @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+086adabb13d6b457f9ee5af5ff985fa0edfd8c29	The authors report the combination of @DISEASE$, and @PHENOTYPICFEATURE$ in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections.	has_symptom
+dccd733c37ee956043cc69de24cf94684ede572d	Other types of hereditary @PHENOTYPICFEATURE$ @DISEASE$, without associated abnormalities.	has_symptom
+202c285f94364deaa35b6b793553f1ff209fb50c	If estrogen receptor beta is knocked out in mice, severe progressive hearing loss @DISEASE$, leading to early @PHENOTYPICFEATURE$.	has_symptom
+6a20ac4d2615902b945cc7d817d11f850b85b67e	The hearing impairment @DISEASE$ several weeks after therapy and leads to @PHENOTYPICFEATURE$ in severe cases even if the treatment had been discontinued a long time ago.	has_symptom
+48bd2a3d757f6613cafce4846b8c40e587aa6bad	As a consequence, otitis and @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+442cff8ad72f2fe23d368bb70dc4983645956124	Newborn genetic screening through the umbilical cord blood for common @PHENOTYPICFEATURE$-associated mutations may identify carriers sensitive to aminoglycoside antibiotic, and can effectively prevent or delay hearing loss @DISEASE$.	has_symptom
+ed3eea4b45d1262170c5119fa03975a3e8bf2ae8	Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of hypoparathyroidism and @PHENOTYPICFEATURE$ @DISEASE$ in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad.	has_symptom
+5e15aeabceb2c2f970c76b31574d63a403a995d0	Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of hypoparathyroidism and @DISEASE$ occurs in well over 90% of those affected, with various @PHENOTYPICFEATURE$ being the most heterogeneous feature of the classic triad.	false
+e6eeb987daafb922f825e7d6dfa19102daa16707	@PHENOTYPICFEATURE$ is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of hypoparathyroidism and hearing impairment @DISEASE$ in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad.	false
+6748b22114668272ae90b05b5a68ea78a2ebeba9	Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of @PHENOTYPICFEATURE$ and hearing impairment @DISEASE$ in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad.	false
+775f34f042b9c5bdb1b0d2ef9d47c659a56fcf49	Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of hypoparathyroidism and hearing impairment @DISEASE$ in well over 90% of those affected, with various @PHENOTYPICFEATURE$ being the most heterogeneous feature of the classic triad.	false
+68c2c006964536d81455877f5b986e82dc8e6f39	Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of @PHENOTYPICFEATURE$ and @DISEASE$ occurs in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad.	false
+0878321de8ea0222f4ba167e69bbd9e73a2f96a2	@PHENOTYPICFEATURE$ is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of hypoparathyroidism and @DISEASE$ occurs in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad.	false
+5cd693932ee0deb4ddd9741974ddb1eedfeea16e	High-dose glucocorticoid therapy in the management of @PHENOTYPICFEATURE$ in neonatal @DISEASE$: a case report.	has_symptom
+40425fe80d13e523d1d0b4d6e55870e88c98b2c3	@DISEASE$ (IP) is a genetic disease leading to severe neurological symptoms, such as @PHENOTYPICFEATURE$, but no specific treatment is available.	has_symptom
+c2cad0166defbfd2048b0a0f6c7656524faa7130	Gene therapy decreases @PHENOTYPICFEATURE$ in a model of @DISEASE$.	has_symptom
+9b032febf1e52799d8769b557ae276b7c8f9b398	@DISEASE$ (IP) has been associated with CNS involvement, including @PHENOTYPICFEATURE$, retardation, motor abnormalities, and malformations in greater than 30% of patients.	has_symptom
+635c077b11a7f58649d6a28e3fb1023ccdc88434	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, brachydactyly, dysmorphic facial features, and @PHENOTYPICFEATURE$.	has_symptom
+33b37f03f7ad923d7527545d0e92c39ae51cfe24	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, brachydactyly, @PHENOTYPICFEATURE$, and intellectual disability.	false
+81675d482bb5041d61b9b9325ea4a69f8a5ad84d	Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, and @DISEASE$.	false
+d276743957f936985fd7be585afa97aa2a05b002	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, and intellectual disability.	false
+8da7d21204523fcde53756057fa4ea6245eefa24	Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fb46e53456fc33f2d6fe394754d70a19cc5b67c7	Two of the three children had skeletal anomalies resembling @DISEASE$: @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, and intellectual disability.	false
+91fbf6923f4675e16a3c732ab9d8267e352785c4	Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, and @DISEASE$.	false
+14d328be72b48c0c2af75914b3a9f09947a26fdf	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	has_symptom
+897df58b09b159c7475542cfdad78eadecb437a4	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+386cf89e17086eb16981f10661f9b19bef0e2cc6	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @PHENOTYPICFEATURE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+9b01d7cbd9f59a0ed56d509cbe02c7f6a51777e6	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, mental retardation, hyperkinesis, @DISEASE$, and orthopedic abnormalities (1).	false
+c647aa5565b0cd40bb2f5727c55d25ab8841a9fc	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+0d80adb21fb2b2cbd0b9705aeaf0e496ea71ff86	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @PHENOTYPICFEATURE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+ba771f1b937a612a35165bbf36f03a086ea0fcee	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @PHENOTYPICFEATURE$, hyperkinesis, @DISEASE$, and orthopedic abnormalities (1).	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1524a17790cfda5defb4618bfa5098d9b25675ae	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d6cdca5aa7a25ad36b53218064f8ffff5ba64b9a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+ee420f5dcfb778b1fda171f62ab33b33f5628a95	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e15a09993e79b694de2c5f76267b89bfe36fca08	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+3315ced9c9b55c9a09a24e94090a80755a91b47e	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8ae9ce05e8a4ffb24edcfe6cdfb35a38192ef59c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+9a6a95b167f8d4a7de6296b388ec02de89dd06f4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+067d83acedb309fd61064770abf7db4a917313e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+71476b525a9a0b7832e30f44f04b67821f3d12a4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+312e821121bb15d7c50b1574deeb5b936c932045	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+1a059dc6b367b4db9018e75ed6386b7fb97803e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+b941a4707a39047cc049bc4f9507e20162c96269	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+67dd052b36c78a397c8a82d49e0ffc7395fd5e6b	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d4addaf946983c99020bdc22a80aff4b30c34cef	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+b1f4002493e9eac6ccb90755bc78be39d3215967	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+50534e0d73e98d4b479d42873cfb589e342cca41	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+f120787f4c2bcc44d3628109fae861e5bd32792f	@DISEASE$, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, @PHENOTYPICFEATURE$, and hypoplastic nails.	has_symptom
+1044d70bd2a1af2b3efdbb94ecbe824c483a3bf8	@DISEASE$, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and @PHENOTYPICFEATURE$.	false
+6df7bd5c8a33c6522cd167fab76a70a41a0d6e5c	Huriez syndrome, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+aa478aae311bee9fe97bd5cadc137f011a86b60a	@DISEASE$ (HHRH) , an autosomal recessive disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @PHENOTYPICFEATURE$, rickets, and osteomalacia.	has_symptom
+72cb8ddb25779aad043dbb376b6e2b47577790eb	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an @PHENOTYPICFEATURE$ disorder first identified in a large Bedouin tribe, is characterized by @DISEASE$ secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and osteomalacia.	false
+e1cce5dc57a1b31c488394c09987029920afe6da	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an @PHENOTYPICFEATURE$ @DISEASE$ first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and osteomalacia.	false
+a4112c19e74daa5ee705fc94b36d00a3206ca746	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an @PHENOTYPICFEATURE$ disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @DISEASE$, rickets, and osteomalacia.	false
+bddd4e2865d730437c14e1d064439fea6585435b	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an @PHENOTYPICFEATURE$ disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and @DISEASE$.	false
+bbfa1d4dc46e5f595f02d38d61c50b8768e164a1	@DISEASE$ (HHRH) , an @PHENOTYPICFEATURE$ disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and osteomalacia.	false
+c45dc6db632a548fc09f4697de5eddaec52af71f	Other studies had revealed heterozygous mutations in the sodium phosphate co-transporter NaPi-IIa as the cause of hypophosphatemia associated with @PHENOTYPICFEATURE$ and osteoporosis, and homozygous or compound heterozygous mutations in NaPi-IIc were shown to cause @DISEASE$.	has_symptom
+de395c5b5c25a4555b8c6a759cae84a473b116de	Other studies had revealed heterozygous mutations in the sodium phosphate co-transporter NaPi-IIa as the cause of @DISEASE$ associated with hypercalciuria and @PHENOTYPICFEATURE$, and homozygous or compound heterozygous mutations in NaPi-IIc were shown to cause hereditary hypophosphatemic rickets with hypercalciuria.	false
+0bec9b434adacb8c88673f5e7e5548d209cb53c1	Other studies had revealed heterozygous mutations in the sodium phosphate co-transporter NaPi-IIa as the cause of hypophosphatemia associated with hypercalciuria and @PHENOTYPICFEATURE$, and homozygous or compound heterozygous mutations in NaPi-IIc were shown to cause @DISEASE$.	false
+f3d016d8210d065fdbbcdea973a086eb1dfb3da4	Other studies had revealed heterozygous mutations in the sodium phosphate co-transporter NaPi-IIa as the cause of hypophosphatemia associated with @DISEASE$ and @PHENOTYPICFEATURE$, and homozygous or compound heterozygous mutations in NaPi-IIc were shown to cause hereditary hypophosphatemic rickets with hypercalciuria.	false
+f11b7623c8809e0bb4d89128717d10dac5b8ff6a	A novel VPS13B mutation in two brothers with @DISEASE$, cutis verticis gyrata and @PHENOTYPICFEATURE$.	has_symptom
+334b788abf36fd04294da2ae2e227e533a9c7cf2	We describe two brothers with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c1362b708975680faa0ba2adce28853bdcb5e4e4	An unusual case of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+e31452b48424a965014ca9a8f731ac770f0c30db	Idiopathic familial @PHENOTYPICFEATURE$ of this type has been described, but an association with @DISEASE$ has not previously been observed.	has_symptom
+501d99bfb63ce5b3f5528dc8c43685f2e6ef16e5	Revesz syndrome, a subtype of @DISEASE$ (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, @PHENOTYPICFEATURE$, and neurocognitive impairment.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+f06a0309a718c99f4c22a62cd1c63a46d2fc85c5	Head magnetic resonance imaging demonstrated recurrent multiple @DISEASE$ in the cerebellum without @PHENOTYPICFEATURE$.	has_symptom
+23d02168cad09cb3732ff978fa59cc7c456bf2f3	Extracranial duplication of the vertebral artery was demonstrated angiographically on both sides in a patient with postmeningitis @PHENOTYPICFEATURE$ and in another with @DISEASE$.	has_symptom
+8da937b9bb5dd60562898947bdf2a5e5640689b9	MRI showed areas of abnormal enhancement in the left cerebellum that were determined to be @DISEASE$ with mass effect and obstructive @PHENOTYPICFEATURE$.	has_symptom
+0d19d07fc16625eb77d9f57fea7f7d107d9861cd	She had a thirty-year history of treatment for intracranial @DISEASE$ due to von Hippel-Lindau disease and @PHENOTYPICFEATURE$.	has_symptom
+7df886d1802a24e77d022009085936cdc97b1245	Hydrocephalus: a rare initial manifestation of sporadic intramedullary @DISEASE$ : Intramedullary hemangioblastoma presenting as @PHENOTYPICFEATURE$.	has_symptom
+8ce0f8da187b7227921c85ef80d444b3734b33b2	Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary @DISEASE$ presenting as @PHENOTYPICFEATURE$.	has_symptom
+2317f04f11710ef40310ca653daa47288ab63815	Spinal @DISEASE$, syrinx, and @PHENOTYPICFEATURE$ in a two-year-old child.	has_symptom
+d91c7691edf3017463225643d20276d0b80691e0	[A case of @PHENOTYPICFEATURE$ with hypacusis due to @DISEASE$].	has_symptom
+e1b3d20b6e6de5ecea64afda068229dde4d7848c	This is the second reported case of @DISEASE$ presenting with acute @PHENOTYPICFEATURE$.	has_symptom
+5988a5d01dbb0882a95c7de65f44ad7d1ba0abef	Later, he developed @PHENOTYPICFEATURE$ due to a cerebellar cystic @DISEASE$.	has_symptom
+17dbd20a37c5714aeb84a85d70530bdecd52530c	Later, he developed hydrocephalus due to a @PHENOTYPICFEATURE$ @DISEASE$.	false
+92518fb361e4c716b71acb7137c4837ab318417a	Later, he developed @DISEASE$ due to a @PHENOTYPICFEATURE$ hemangioblastoma.	false
+266e63a9899ce6c3aacc9f62f1edb655beca8122	The embolization procedure caused no permanent complications; however, one patient with a posterior fossa @DISEASE$ and @PHENOTYPICFEATURE$ worsened clinically within 12 hours of embolization.	has_symptom
+57a9b69abbafe5b0f43840cdb7069f17c5941062	Individuals with @DISEASE$ frequently present with a constellation of medical problems including @PHENOTYPICFEATURE$ and, to a lesser degree, sensorineural hearing loss.	has_symptom
+56e0665a5040779984200b57d598bd2998ae23af	Individuals with @DISEASE$ frequently present with a constellation of medical problems including conductive hearing loss and, to a lesser degree, @PHENOTYPICFEATURE$.	false
+de1005027f67bc8920b08760ce059650dbc1f3eb	Individuals with Down syndrome frequently present with a constellation of medical problems including @DISEASE$ and, to a lesser degree, @PHENOTYPICFEATURE$.	false
+cba9994f92c8e699417a9b2bfe56f41992833153	The purpose of this study was to evaluate pressurised wideband acoustic immittance (WAI) tests in children with @DISEASE$ (DS) and in typically developing children (TD) for prediction of @PHENOTYPICFEATURE$ (CHL) and patency of pressure equalising tubes (PETs).	has_symptom
+a9e9cb356cd0b519ba439a6c3c28f2ff2634bafe	DPOAE examination results in subjects with @DISEASE$ without @PHENOTYPICFEATURE$ indicate early age related inner ear impairment.	has_symptom
+1dcb8ab462b328312293edc3a9fc0e52a06b605c	Although, the association between @DISEASE$ (DS) and @PHENOTYPICFEATURE$ is well recognized, the fact that a small proportion of these children may have a severe to profound sensorineural hearing loss that could benefit from cochlear implantation (CI) is less well understood.	has_symptom
+63a5126f9b65596488fe5e02ae30b13fce96ab34	Although, the association between Down syndrome (DS) and @DISEASE$ is well recognized, the fact that a small proportion of these children may have a severe to profound @PHENOTYPICFEATURE$ that could benefit from cochlear implantation (CI) is less well understood.	false
+6baafd7d0c9c2f5eff5720fa30581f955dbd5e3a	Although, the association between @DISEASE$ (DS) and conductive hearing loss is well recognized, the fact that a small proportion of these children may have a severe to profound @PHENOTYPICFEATURE$ that could benefit from cochlear implantation (CI) is less well understood.	false
+7b160aa16f63f4a981c503f1a52e12ffa7587b6c	We also discuss hearing loss in patients with @DISEASE$ and present our hypothesis that remnants of mesenchymal tissue in the round window niche might cause a certain degree of @PHENOTYPICFEATURE$ in such cases.	has_symptom
+eecb8baeec1fcfe1710a1803a87ce0127a435572	Anomaly in the incudostapedial articulation (IS) may be responsible for persistent @PHENOTYPICFEATURE$ (HL) in @DISEASE$ (DS) patients.	has_symptom
+8dad98b15b7b004cfed95087501a30b3d51bc263	@DISEASE$ is characterized by fever, muscle aches, sore throat, nausea, vomiting, and chest and @PHENOTYPICFEATURE$.	has_symptom
+bb2ce20353b38e1010a1f824eca5fe4e5dee85b3	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, and chest and abdominal pain.	false
+7fe93e4a3b16721a09faf4bd1356df4dc88adc87	Lassa fever is characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, and chest and @DISEASE$.	false
+edba39c0f70cce8edd327ea842cc634b6c2f2f2d	Lassa fever is characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, and chest and @DISEASE$.	false
+468c145b4e9fa98da40ec1967a6bb40ec0cb31ac	@DISEASE$ is characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, and chest and abdominal pain.	false
+40e8386d3f5ab181f6ab5b2b2ae69f7bd1542664	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, @PHENOTYPICFEATURE$, sore-throat, mucosal bleeding, seizures and coma.	has_symptom
+5b937a12d75a6df4df6012625bea64b3b211df98	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, @PHENOTYPICFEATURE$ and coma.	false
+f4920f7d41f1c73ffe0c1be34a161939477b771d	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, @PHENOTYPICFEATURE$, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, seizures and coma.	false
+ec8ff169782a23dc6a5ab6a3fda1dbaa7ef75bf2	Lassa fever, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, vomiting, retrosternal pain, @DISEASE$, sore-throat, mucosal bleeding, @PHENOTYPICFEATURE$ and coma.	false
+8f713d692c0d048d0345cce8fd0d6b4150961558	Lassa fever, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, @PHENOTYPICFEATURE$, retrosternal pain, @DISEASE$, sore-throat, mucosal bleeding, seizures and coma.	false
+8434852cf8be9a7247910964f3b8ecb40a5c51bd	@DISEASE$, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and @PHENOTYPICFEATURE$.	has_symptom
+546bc56f40949681b7ebc96002842df2795fec85	@DISEASE$, an acute hemorrhagic fever characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and abdominal pain.	false
+19f32e6f9a9a958946f0388b6d7bb8b1a5b2ded1	Lassa fever, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, diarrhea and chest and @DISEASE$.	false
+d97fc3b7fd9aeecc12de9c347d4fc8a3cb0b85da	Lassa fever, an acute hemorrhagic fever characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, @DISEASE$ and chest and abdominal pain.	false
+a7595e75151433d8682cd3e0e58a631aa0aac507	Lassa fever, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, @DISEASE$ and chest and abdominal pain.	false
+1aaaf110d35c9c2fefa1f322446694a2ecd6e925	Lassa fever, an acute hemorrhagic fever characterized by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting, diarrhea and chest and @DISEASE$.	false
+905d83e04e8eec0c0e11dbb79f7a770eb1584cdb	@DISEASE$, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, diarrhea and chest and abdominal pain.	false
+a113a55564fedabd448a8cff88f56e7fa33a939f	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by fever, muscle aches, sore throat, nausea, vomiting and, chest and @PHENOTYPICFEATURE$.	has_symptom
+88a1f419c833236181e37152570f77bbcb7f526b	Lassa fever is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting and, chest and @DISEASE$.	false
+33cb937030b0abefa787c2f40afa249605feabba	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$ and, chest and abdominal pain.	false
+1ad02e17a9338ebd95bcb48ba63fbdd51f65926a	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by @PHENOTYPICFEATURE$, muscle aches, sore throat, nausea, vomiting and, chest and abdominal pain.	false
+215035759468528f44286624aa5304c4f887bf59	Lassa fever is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$ and, chest and @DISEASE$.	false
+b2b1905f88a827001c1b94233ecfe07a4daa63b2	@DISEASE$ (HHRH), a renal phosphate (Pi) wasting disease first described in an extended Bedouin kindred, is characterized by @PHENOTYPICFEATURE$, elevated serum 1,25-dihydroxyvitamin D levels, hypercalciuria, rickets, and osteomalacia.	has_symptom
+141788f418047d13869eeeafdb5c632d22865b7a	Among various causes of low serum phosphorous are inherited disorders associated with increased urinary excretion of phosphate, including autosomal dominant hypophosphatemic rickets (ADHR), X-linked hypophosphatemia (XLH), autosomal recessive @PHENOTYPICFEATURE$ (ARHP), and @DISEASE$ (HHRH).	has_symptom
+cf300af74014ba08bfa8cdc8ea3679fd0cb64723	@DISEASE$ (HHRH) is an autosomal recessive form of @PHENOTYPICFEATURE$ with hyperphosphaturia, hypercalciuria, and hypercalcemia.	has_symptom
+fbc01237c41c4611638a3cdff6934f5a8a7a3038	@DISEASE$ (HHRH) is characterized by rickets, hyperphosphaturia, @PHENOTYPICFEATURE$, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria.	has_symptom
+54b673cb5d67e99885b0738114b5d2cc80613ab0	@DISEASE$ (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by @PHENOTYPICFEATURE$, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	has_symptom
+97e3f2eba877bbf97ce37288db99a341b7f2a564	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare @DISEASE$ inherited in an autosomal recessive fashion and characterized by hypophosphatemia, @PHENOTYPICFEATURE$, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	false
+ede90fb5f89f6fbfa415226679d8762250667ed2	@DISEASE$ (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, @PHENOTYPICFEATURE$, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	false
+e0e8841fe2f31c545891a623e867b000615c3bac	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by @DISEASE$, @PHENOTYPICFEATURE$, rickets and/or osteomalacia, and secondary absorptive hypercalciuria.	false
+f6d3de1a22456f3256fa027e3e563c5927b899f9	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, @PHENOTYPICFEATURE$, rickets and/or @DISEASE$, and secondary absorptive hypercalciuria.	false
+37bdea7a31c4c7fbf60db19537ffbdf943edc8a6	@DISEASE$ (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate reabsorption, @PHENOTYPICFEATURE$, and rickets.	has_symptom
+9ec705260a26c20551a432a1b7a263ff77434cdc	Chronic graft-versus-host disease persists in one patient; the other five survivors have fully restored immune function and have no manifestations of @DISEASE$, including @PHENOTYPICFEATURE$.	has_symptom
+500e7f431f54b263acc7f46105f1852536f96fbf	@DISEASE$ is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and @PHENOTYPICFEATURE$, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma.	has_symptom
+76ff8b7a7f595bdaf9f6dc961862798b1bde3606	@DISEASE$ (OS) is a rare disorder within the combined immunodeficiency family that is characterized by a diffuse exudative, erythematous rash, lymphadenopathy, hepatosplenomegaly, alopecia, and @PHENOTYPICFEATURE$.	has_symptom
+a9e6be516d414393cdba0a2f36f9338dff897641	We describe a fourth case of Elejalde's syndrome (@DISEASE$) in an 18 week fetus which had the typical features of craniosynostosis, gross oedema, @PHENOTYPICFEATURE$, postaxial polydactyly, redundant connective tissue and cystic renal dysplasia.	has_symptom
+edc046bbe1e59cb34fac20554a04f2e2fb097604	Twenty-one studies addressed treatments for headache (including migraine); seven for @PHENOTYPICFEATURE$; four included mixed pain conditions including headache pain, two for fibromyalgia, two for pain associated with sickle cell disease, and one for @DISEASE$.	has_symptom
+dee955ca5cf47cd04ffbc5399b1c22a3682fb0a4	A 22-year-old Caucasian woman with a 6 year history of persistently active, systemic onset @DISEASE$ (JRA) developed symptoms of headache, dry cough, nausea, vomiting, @PHENOTYPICFEATURE$, diarrhea, and dehydration associated with a high fever, elevated liver enzymes, and lymphopenia.	has_symptom
+1c653e572fe39f263d11e5e1e736301dd81f3dbf	A 22-year-old Caucasian woman with a 6 year history of persistently active, systemic onset juvenile rheumatoid arthritis (JRA) developed symptoms of headache, dry cough, nausea, @PHENOTYPICFEATURE$, abdominal pain, @DISEASE$, and dehydration associated with a high fever, elevated liver enzymes, and lymphopenia.	false
+b0530f4abb6aa5d34ac11d031068846dce9902ba	A 22-year-old Caucasian woman with a 6 year history of persistently active, systemic onset juvenile rheumatoid arthritis (JRA) developed symptoms of headache, dry cough, nausea, @PHENOTYPICFEATURE$, @DISEASE$, diarrhea, and dehydration associated with a high fever, elevated liver enzymes, and lymphopenia.	false
+da6afa3048fc2c86c2c74064c3232b2e88f6ed85	A 22-year-old Caucasian woman with a 6 year history of persistently active, systemic onset juvenile rheumatoid arthritis (JRA) developed symptoms of headache, dry cough, nausea, @PHENOTYPICFEATURE$, abdominal pain, diarrhea, and dehydration associated with a high fever, elevated liver enzymes, and @DISEASE$.	false
+762ef9121dde7154635202d507ba8773d85eb13c	A 22-year-old Caucasian woman with a 6 year history of persistently active, systemic onset @DISEASE$ (JRA) developed symptoms of headache, dry cough, nausea, @PHENOTYPICFEATURE$, abdominal pain, diarrhea, and dehydration associated with a high fever, elevated liver enzymes, and lymphopenia.	false
+a0b0057ea5e56d1dbf8782b0f44f53b05613e177	A 14-year-old boy with @DISEASE$ receiving repeated intra-articular steroids for last 3 years developed fever, fatigue, nausea and @PHENOTYPICFEATURE$.	has_symptom
+23c771a2ec706ed9516a27be7ffc86c3021c7fdc	Studies were included in the review if the majority of participants were between 0 and 17 years and from one of the following pediatric pain populations: @DISEASE$, sickle cell disease, migraine/headache, functional @PHENOTYPICFEATURE$, juvenile fibromyalgia syndrome, chronic musculoskeletal pain, or mixed populations including the aforementioned conditions.	has_symptom
+2b826502a202487b5b39da4cd0dcc62ad7d214da	Studies were included in the review if the majority of participants were between 0 and 17 years and from one of the following pediatric pain populations: juvenile idiopathic arthritis, sickle cell disease, migraine/headache, functional @DISEASE$, juvenile fibromyalgia syndrome, chronic musculoskeletal @PHENOTYPICFEATURE$, or mixed populations including the aforementioned conditions.	false
+1d21597f1599554cbeb4edaa86b63ed0996fb090	Studies were included in the review if the majority of participants were between 0 and 17 years and from one of the following pediatric pain populations: @DISEASE$, sickle cell disease, migraine/headache, functional abdominal pain, juvenile fibromyalgia syndrome, chronic musculoskeletal @PHENOTYPICFEATURE$, or mixed populations including the aforementioned conditions.	false
+5e29b6dbe9435cce6118a5ad499a4d552774564d	Studies were included in the review if the majority of participants were between 0 and 17 years and from one of the following pediatric pain populations: juvenile idiopathic arthritis, sickle cell disease, migraine/headache, functional abdominal pain, juvenile @DISEASE$, chronic musculoskeletal @PHENOTYPICFEATURE$, or mixed populations including the aforementioned conditions.	false
+4828814f2e4589dc45eded7bc968c6d8b939fb8d	Gain of function mutations are associated to Autossomal dominant @PHENOTYPICFEATURE$ and @DISEASE$, while loss of function mutations are associated to Familial hypocalciuric hypercalcemia and Neonatal severe hyperparathyroidism.	has_symptom
+5bc45edbfa39caf42b7c4b92886fabe42d1751ce	 cause @DISEASE$, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of @PHENOTYPICFEATURE$, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals).	has_symptom
+42da0e02e69f657feba20d2b25d70c9b1714e5f7	@DISEASE$ (HD), a devastating neurodegenerative disorder, is characterized by progressive motor dysfunction, emotional disturbances, dementia, @PHENOTYPICFEATURE$, depression.	has_symptom
+80934043077999368f33e519d34426b4627add37	@DISEASE$ (HD), a devastating neurodegenerative disorder, is characterized by @PHENOTYPICFEATURE$, impairment of motor function, cognitive dysfunction, neuropsychiatric disturbances and striatal damage.	has_symptom
+9cd364d9d80a0293c62f7738ed6cbcd60621469d	We previously identified a systemic metabolic defect associated with early @PHENOTYPICFEATURE$ in patients with @DISEASE$ (HD), suggesting a lack of substrates for the Krebs cycle.	has_symptom
+f34598ac1d3a4332053e06ac60471376ca958e48	We present the biochemical and molecular diagnosis of @DISEASE$ (also known as E3 deficiency) and Leigh syndrome in a 14-year-old girl with learning disability and episodic @PHENOTYPICFEATURE$ and ketoacidosis.	has_symptom
+fb20d45ff5f1558f7c615ff56261ccbdd544632a	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, @PHENOTYPICFEATURE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	has_symptom
+957f8ff74b6a1cbb407d16117552b10d52c70612	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @PHENOTYPICFEATURE$.	false
+b51f2d8a409a4ad4d1f6382aa68a7e0b23c9a861	Myhre syndrome is a rare disorder characterized by low birthweight, @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+44f875974743e71eace74aaa9365e4809337f901	Myhre syndrome is a rare disorder characterized by low birthweight, short stature, @DISEASE$, @PHENOTYPICFEATURE$ (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+405bac682de349e533a8ca02cdd2ac0b38e14f2b	Myhre syndrome is a rare disorder characterized by low birthweight, short stature, @DISEASE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @PHENOTYPICFEATURE$.	false
+c3feb52d95e0e6dc370063d4951c7cd347007950	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, mental retardation, @PHENOTYPICFEATURE$ (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+049f5da06583ef39a26aab0ce17fe57341ebee0c	@DISEASE$ is a rare disorder characterized by low birthweight, @PHENOTYPICFEATURE$, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+c7929b4a7e01516fd7ff1a8df3ee24e4bfb4e543	@DISEASE$ (MS) (MIM 139210) is a rare disorder characterized by short stature, @PHENOTYPICFEATURE$, muscular build, blepharophimosis, and decreased joint mobility.	has_symptom
+a7206ccd70d3a813c1987f91b52c7a9e5dba5878	Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, muscular build, blepharophimosis, and decreased joint mobility.	false
+48fc576d1d2131194d9352e2d6f3db8df72cf645	@DISEASE$ (MS) (MIM 139210) is a rare disorder characterized by @PHENOTYPICFEATURE$, mental retardation, muscular build, blepharophimosis, and decreased joint mobility.	false
+9e10645ff442f11a202dfa39b4241ff98151048a	@DISEASE$ is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable @PHENOTYPICFEATURE$, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	has_symptom
+0aa3c2cac8e7191700c095097685b7f73d2abd7b	@DISEASE$ is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+c84ee567be44ad42472013a8b8fa3cf438746c0a	@DISEASE$ is a rare multisystem connective tissue disorder, characterized by @PHENOTYPICFEATURE$, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+5cf29f5d3917b52eb47fd289c46f7022feaa58df	Myhre syndrome is a rare multisystem @DISEASE$, characterized by short stature, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+eb6373e03c35810f1fee781cd43c34979721c2ee	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable @DISEASE$, @PHENOTYPICFEATURE$, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+798f9d945cab0adbdccec4505ea9ae7ca5bdad3f	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by @PHENOTYPICFEATURE$, facial dysmorphology, variable @DISEASE$, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+4df1c4187263d2be44eeb53cb9005d05fce1b244	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+ec1a94fb16ef230873f43dc6c94586e3f2914e8e	Myhre syndrome is a rare multisystem @DISEASE$, characterized by @PHENOTYPICFEATURE$, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+9f29519a70f3b3520f5fd3d2ba7461b4693f770d	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by @PHENOTYPICFEATURE$, facial dysmorphology, variable intellectual disability, skeletal abnormalities, @DISEASE$, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+1ba7524639577a1b6234628b97e4681b5d03fc31	In this study, we assessed to investigate NLR in patients with @DISEASE$, comparing the results with controls and to determine whether there is a difference in NLR levels in subgroups of IPD (akinetic-rigid and @PHENOTYPICFEATURE$-dominant) differ in their levels of NLR.	has_symptom
+c978b9c3e24a0b9ad836278febad9ed49d00b920	leads to @PHENOTYPICFEATURE$ with steroid-resistant nephrotic condition similar to @DISEASE$.	has_symptom
+bc4500c4e92b68ee6a0e993e22281731ef515d2c	@DISEASE$ (GMS) is an autosomal recessively inherited condition which manifests with severe encephalopathy, featuring @PHENOTYPICFEATURE$, developmental delay, and early-onset intractable epilepsy.	has_symptom
+946deaa2d77cdd57f1882a54bdf195736858a84d	@DISEASE$ is a rare autosomal-recessive condition characterized by nephrotic syndrome associated with @PHENOTYPICFEATURE$ and neurological impairment.	has_symptom
+d4cd30f994dce6ba16688181f3c7791915d5b92d	@DISEASE$ (GAMOS) is a neural and renal disorder, characterized by @PHENOTYPICFEATURE$, brain anomalies, and early onset nephrotic syndrome.	has_symptom
+fd867bb12de18d3f01b384e083a4c065df249cdc	@DISEASE$ (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and @PHENOTYPICFEATURE$ with brain anomalies.	has_symptom
+c873d804a121cce87a77f3d47f7bc57b7e2b4bcd	@DISEASE$ is a rare autosomal recessive disease that causes @PHENOTYPICFEATURE$ and is associated with kidney pathology.	has_symptom
+83577c56d440b6f42166b8a4a07b4dc376c94b40	@DISEASE$ (GMS) is a rare autosomal-recessive disorder characterised by nephrotic syndrome, @PHENOTYPICFEATURE$, and variable brain anomalies.	has_symptom
+74f12232801142d0dff4fc0c609033a6d05d0fbf	@DISEASE$ is a rare autosomal-recessive disorder classically described as the combination of @PHENOTYPICFEATURE$ and nephrotic syndrome.	has_symptom
+ab889bd58c5a38a8392730f356c9dca2e4aba0f5	@DISEASE$ (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and @PHENOTYPICFEATURE$ with brain anomalies.	has_symptom
+d2012a6769673834ea5103faf1a03719eb2dce4a	Loss-of-function mutations in WDR73 are responsible for @PHENOTYPICFEATURE$ and steroid-resistant nephrotic syndrome: @DISEASE$.	has_symptom
+d6281fc1c36c01456f4164f4586f2ba276db1387	@DISEASE$ (FBD), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, @PHENOTYPICFEATURE$, and cerebellar ataxia, with onset at around the fifth decade of life.	has_symptom
+1f29a21a88b490673a57648cbe62c376720408cd	Familial British dementia (@DISEASE$), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, @PHENOTYPICFEATURE$, and cerebellar ataxia, with onset at around the fifth decade of life.	has_symptom
+86d17a8c78bd02f3d9d8878418e3f172a4c03089	Familial British dementia (FBD), previously designated familial @DISEASE$, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, @PHENOTYPICFEATURE$, and cerebellar ataxia, with onset at around the fifth decade of life.	has_symptom
+2ad5d9b453f1db60b38005b77995bb403259339f	Familial British dementia (FBD), previously designated familial @DISEASE$, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+e95af19a64d5390c9681833cc84322603ee67da4	@DISEASE$ (FBD), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+49f6ef814215c0f54d3c265b6e753c2a80c59c5f	Familial British dementia (FBD), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, @DISEASE$, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+fdd901d1f893bc41813213f7dac58ddc3b2db4ce	Familial British dementia (@DISEASE$), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+244605727e82c3a4f0a3dd8ea3784da593739067	Familial British dementia (FBD), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive @DISEASE$, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+5f9458f0f406a46b21edcae43318c2b6d48a6b1a	Familial British dementia (@DISEASE$) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, @PHENOTYPICFEATURE$, and cerebellar ataxia.	has_symptom
+97abb8dc40d536c328d32bff5f58933ae0d37a5c	@DISEASE$ (FBD) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, @PHENOTYPICFEATURE$, and cerebellar ataxia.	has_symptom
+af86a776b324b1350687c2a0b77691f0a3cd0a77	Familial British dementia (@DISEASE$) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, spasticity, and @PHENOTYPICFEATURE$.	false
+962937771042353c66c0c47b4e4f41e1f49e08d7	Familial British dementia (FBD) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+53a3c79aa4b0fa8e9b1dea80b5864abb55e0d617	@DISEASE$ (FBD) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, spasticity, and @PHENOTYPICFEATURE$.	false
+e3a2e0a51be5be3bf357d18b217da8fb428f4d31	@DISEASE$ is a rare @PHENOTYPICFEATURE$ transgradient type of PPK with high frequency of squamous cell carcinoma in the affected skin.	has_symptom
+9eca378cd8ffe97b31feba3a7112d1782739719c	@DISEASE$ is a rare autosomal dominant transgradient type of PPK with high frequency of @PHENOTYPICFEATURE$ in the affected skin.	false
+d5e7c0950c58b2965bb1835fe7b37b16955966e1	Huriez syndrome is a rare @DISEASE$ transgradient type of PPK with high frequency of @PHENOTYPICFEATURE$ in the affected skin.	false
+6f43c9b47e8400d856f49b21d1bb57b039129e20	Bleeding, ulceration and @PHENOTYPICFEATURE$ can occur in @DISEASE$ (RICH).	has_symptom
+3db153acafa966ee2f6eff710d558c5bcd5528ef	The @PHENOTYPICFEATURE$ onset time was(138?26)s in @DISEASE$ group,which was significantly shorter than that in NC group[(234?28)s;t=2.485,P=0.0274].	has_symptom
+ad90c07cc7227dd48ac6009f83419b1ff96b14a3	When treated with @DISEASE$, about 50% of rats undergoing LiPilo status epilepticus (SE) develop non-convulsive @PHENOTYPICFEATURE$ (NCS) instead of convulsive ones (commonly observed in TLE).	has_symptom
+9ed432fa5e44200d12d5ba15ba1df4bc5d81f875	The @PHENOTYPICFEATURE$ duration of the @DISEASE$ group was(61?16)min,which was significantly longer than that of the NC group[(37?5)min;t=3.342,P=0.0053].Conclusion CRS mice are more susceptible to KA-induced acute epileptic seizures.	has_symptom
+a63903547db2b537883a332b34bfefccb226fdad	The seizure duration of the @DISEASE$ group was(61?16)min,which was significantly longer than that of the NC group[(37?5)min;t=3.342,P=0.0053].Conclusion CRS mice are more susceptible to KA-induced acute @PHENOTYPICFEATURE$.	has_symptom
+c6b5c2b7dd63fcd5d1a69a06b1ae5e4d6e6d8dd1	A modified cortical ramp stimulation (@DISEASE$) model has been developed allowing repeated determinations of @PHENOTYPICFEATURE$ threshold at short time intervals in individual rats without inducing postictal threshold increases.	has_symptom
+90633248c68f3b9ffd08e8f1909876a8eaf66249	To evaluate the efficacy, safety, and tolerability of carisbamate (@DISEASE$), an investigational drug, as adjunctive treatment for partial-onset @PHENOTYPICFEATURE$ in adults.	has_symptom
+28d1e2a76cbd840d5e4b91e3eeb0346fc04f1537	In contrast, naloxone pretreatment did not modify the effects of @DISEASE$ or SS on the severity of electroshock-induced @PHENOTYPICFEATURE$.	has_symptom
+8752fcacf1ad3d73c9e431596f1f184183cac701	In the @DISEASE$ model, two different types of threshold were determined, the threshold for localized @PHENOTYPICFEATURE$ (TLS) and the threshold for generalized seizures (TGS).	has_symptom
+ea61e935eee651ace070b920c252345bd19abf3d	In the @DISEASE$ model, two different types of threshold were determined, the threshold for localized seizures (TLS) and the threshold for @PHENOTYPICFEATURE$ (TGS).	false
+93b91feb0d75174ffb39d4eb90ed2c56ec7c17f3	In the CRS model, two different types of threshold were determined, the threshold for localized @DISEASE$ (TLS) and the threshold for @PHENOTYPICFEATURE$ (TGS).	false
+9e5b5156f984ab78911adbaf69ddfcb0d9e0bf1a	Anticonvulsant potency of the standard antiepileptic drugs carbamazepine, phenytoin, phenobarbital, valproate, diazepam and ethosuximide in the @DISEASE$ model was compared with respective drug potencies in two more traditional @PHENOTYPICFEATURE$ models with transcorneal stimulus application, i.e., the minimal electroshock seizure threshold (minEST) and the maximal electroshock seizure threshold (maxEST).	has_symptom
+507c7ee22de3b61470a6e1763f81f3a2bc75ba84	Anticonvulsant potency of the standard antiepileptic drugs carbamazepine, phenytoin, phenobarbital, valproate, diazepam and ethosuximide in the @DISEASE$ model was compared with respective drug potencies in two more traditional seizure models with transcorneal stimulus application, i.e., the minimal electroshock @PHENOTYPICFEATURE$ threshold (minEST) and the maximal electroshock seizure threshold (maxEST).	has_symptom
+da7cfdb19b31159cf641e5f5f31e3c77d1bf18d8	Anticonvulsant potency of the standard antiepileptic drugs carbamazepine, phenytoin, phenobarbital, valproate, diazepam and ethosuximide in the @DISEASE$ model was compared with respective drug potencies in two more traditional seizure models with transcorneal stimulus application, i.e., the minimal electroshock seizure threshold (minEST) and the maximal electroshock @PHENOTYPICFEATURE$ threshold (maxEST).	has_symptom
+54b5e4a31a87b6ceb64ca991abf00599f0395e85	Toxicities include cytokine-release syndrome (@DISEASE$) and neurologic events (encephalopathy, aphasia, and @PHENOTYPICFEATURE$).	has_symptom
+c5cf8531c53fb1e0024a462889ec36a0e1577b75	Respective comparisons showed marked differences in drug potencies between models, indicating that the @DISEASE$ method presents a model of another, more pharmacoresistant @PHENOTYPICFEATURE$ type than seizure types induced in traditional models, such as transcorneal electroshock.	has_symptom
+11ec34b63f73bc8b291d3499c47a9a33c4478fa7	Respective comparisons showed marked differences in drug potencies between models, indicating that the @DISEASE$ method presents a model of another, more pharmacoresistant seizure type than @PHENOTYPICFEATURE$ types induced in traditional models, such as transcorneal electroshock.	has_symptom
+90abb0e78ee76e344d1eb4ec1ad8021289d05452	Bladder @DISEASE$ is a rare @PHENOTYPICFEATURE$.	has_symptom
+a4fa5757d3f766c253f01c8180bdf5c1e425484c	The most common @PHENOTYPICFEATURE$ was @DISEASE$.	has_symptom
+cc9caf7f5b0e6bbc090136e6cd8db96395cd90f1	Secretory characteristics of @DISEASE$ and related @PHENOTYPICFEATURE$.	has_symptom
+791bcd42e05c1f2da779e97c7268dd8f1b3302a1	Bilateral adrenomedullary @PHENOTYPICFEATURE$ are the rule in familial @DISEASE$.	has_symptom
+7f68e4054781e689051a22c87a12b767ea03fbdc	@DISEASE$ and familial @PHENOTYPICFEATURE$ syndromes.	has_symptom
+c95d65d9f56a67911500ed26689714fad1fb6d3c	@DISEASE$ and paraganglioma are chromaffine @PHENOTYPICFEATURE$ secreting catecholamines.	has_symptom
+49db56c596afea1bb5f1af0a23d5c33e451d61f5	@DISEASE$ or adrenal medullary @PHENOTYPICFEATURE$.	has_symptom
+290793c24fc5de15c320a1a2c5fc4f3b84c17806	Cerebellar @PHENOTYPICFEATURE$ presenting with clinical features of @DISEASE$.	has_symptom
+38bee1bce61192fc52138198a1e355ebc5f5ce59	The @PHENOTYPICFEATURE$ was histopathologically confirmed to be @DISEASE$.	has_symptom
+b29f63c757e4a3390e6a8f149aa952e714c4b1c8	@DISEASE$ is a rare neuroendocrine catecholamine-secreting @PHENOTYPICFEATURE$.	has_symptom
+4400b1392b24fa9a9d7e6e1bd30d37d9aa4afedc	Recurrent oral and @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+99ba888d4836de4f76056d28c3314bf51b113306	@DISEASE$ on transplanted parathyroid tissue after total parathyroidectomy for renal @PHENOTYPICFEATURE$.	has_symptom
+143a1a46fe3d497b4f9dc307d914805ed315d05a	[@DISEASE$ arising on transplanted parathyroid tissue after total parathyroidectomy for renal @PHENOTYPICFEATURE$].	has_symptom
+ab5b6a8e6c3c95c659c1fc014900afb00bf4a3a6	We present a case of @DISEASE$ arising on transplanted parathyroid tissue after total parathyroidectomy for renal @PHENOTYPICFEATURE$.	has_symptom
+502ecfaf2294fb5a4755c786f30d1fa4cd9b7a10	Patients with multiple endocrine neoplasia, secondary, tertiary, or familial @PHENOTYPICFEATURE$, multiglandular disease, @DISEASE$, and ectopic glands were excluded.	has_symptom
+7158734ce0888fed05e5c52eb28d0392971db3ea	We excluded patients with prior cervical surgery, @DISEASE$, multiple endocrine neoplasia types 1 and 2, and renal @PHENOTYPICFEATURE$.	has_symptom
+4f87aa8205c8283c531a7ba91d7bd292bec94747	Detected HRPT2 mutation in @DISEASE$ or atypical parathyroid adenoma in sporadic @PHENOTYPICFEATURE$ in Thai patients.	has_symptom
+b6311cad9a8f47fc7ae1c25dafd91b94d289fc38	Lung metastasis from @DISEASE$ causing recurrent renal @PHENOTYPICFEATURE$ in a hemodialysis patient: report of a case.	has_symptom
+f1a5a48f3b3f94f03494922d76a4a7c62a2b51d3	Autosomal dominant familial @PHENOTYPICFEATURE$ syndromes should be considered in the evaluation of patients with parathyroid lesions, particularly in association with @DISEASE$.	has_symptom
+113944f21f7fe3d7ca15602b24363883c4e001a2	This is the second reported case of co-existing @DISEASE$ @PHENOTYPICFEATURE$ and pregnancy.	has_symptom
+fab426c069498de3271a3e3b2ba4880a7593050e	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial @PHENOTYPICFEATURE$--hyperparathyroidism-jaw tumor (HPT-JT) syndrome--that carries an increased risk of @DISEASE$.	has_symptom
+c91ff1d690620724e287228245210512f9ad2e16	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic @DISEASE$ because germ-line inactivating HRPT2 mutations have been found in a type of familial @PHENOTYPICFEATURE$--hyperparathyroidism-jaw tumor (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer.	has_symptom
+16167058c03b23620dcf6c384f6624ff6b959361	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic @DISEASE$ because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--@PHENOTYPICFEATURE$-jaw tumor (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer.	has_symptom
+1ca521d18243ac7e09386534514b7fdf9f8229b3	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--@PHENOTYPICFEATURE$-jaw tumor (HPT-JT) syndrome--that carries an increased risk of @DISEASE$.	has_symptom
+0b4c3dd5df10ce87418eade7321b32e2660f4b84	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--@DISEASE$-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer.	false
+a65651156d190129b71b123a4dca5a0779d0143d	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial @DISEASE$--hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer.	false
+61f7a64a7a71fa45f124495fe611f9fd7baf483c	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic @DISEASE$ because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome--that carries an increased risk of parathyroid cancer.	false
+d704cf85d0a052a1389938f4204023058cbf7e93	We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma because germ-line inactivating HRPT2 mutations have been found in a type of familial hyperparathyroidism--hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome--that carries an increased risk of @DISEASE$.	false
+dbccb10ac8660a50a15ad547f3a95c272531859d	@DISEASE$ is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, skeletal anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+c9404160f9e56fd0a362dde60c7f8cf8b610e662	@DISEASE$ is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, @PHENOTYPICFEATURE$, and agenesis of the corpus callosum.	false
+8f78b65bd2576a8b08358da525c2321df2a77cae	Genitopatellar syndrome is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity @PHENOTYPICFEATURE$, urogenital anomalies, dysmorphic features, skeletal anomalies, and @DISEASE$.	false
+f4fc2b09be0bbdd55232801be661c6a4a80a9a20	Genitopatellar syndrome is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0be6bbb07eae7431a145d46d371d5f1e0e21eb74	@DISEASE$ is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity @PHENOTYPICFEATURE$, urogenital anomalies, dysmorphic features, skeletal anomalies, and agenesis of the corpus callosum.	false
+c47c4e04f1d8850e72eab0d0cc9306ed8291ce1c	@DISEASE$ (HP), is an autosomal dominant trait, which presents with recurrent attacks of @PHENOTYPICFEATURE$, and is the most common cause of chronic relapsing pancreatitis in children.	has_symptom
+0036f9d1eb216ef8e298796c9ae34f524e1bd7b7	Group 1 includes four patients with @DISEASE$; these patients have had recurrent @PHENOTYPICFEATURE$ since early childhood, and have a positive family history for pancreatitis.	has_symptom
+8a36ffcbe23e8f262afe6901d46078bc456101bc	[Intermittent @PHENOTYPICFEATURE$ with hyperpyruvicemia and hyperalaninuria (@DISEASE$)].	has_symptom
+654d0ec926cf359df35abf4216bbc1ac1a516dea	Intermittent @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+93238be3f43412c36eccd14913ed39bcc54c363a	Camptodactyly-arthropathy-@DISEASE$-pericarditis (CACP) syndrome is a rare autosomal recessive congenital disorder that includes childhood-onset camptodactyly, synovial hyperplasia-related arthropathy, progressive @PHENOTYPICFEATURE$ deformity and noninflammatory pericarditis.	has_symptom
+1d2a8562d68ca04f8c6e5d3a6a634659747c800d	We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, @PHENOTYPICFEATURE$, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of @DISEASE$.	has_symptom
+0540d8dd56a36202c0b5562b0a8615dfdeec4677	We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural @PHENOTYPICFEATURE$, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of @DISEASE$.	false
+e5ba185e7ebf697a47261ae1c22793318b1175db	We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, @DISEASE$, sensori-neural @PHENOTYPICFEATURE$, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome.	false
+1f6a76aec5823e3e282a295db46166f05501e3b0	We report the first Palestinian child manifesting with @DISEASE$ psychomotor delay, muscle hypotonia, sensori-neural @PHENOTYPICFEATURE$, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome.	false
+17ebd24f827e484d890e68c11dd6f5b82dff1815	@DISEASE$ with intracranial calcification, hypomyelination, and @PHENOTYPICFEATURE$.	has_symptom
+fd9936a8fc6ce136961e86dd4d05bce740a64dbd	Cockayne syndrome with @PHENOTYPICFEATURE$, hypomyelination, and @DISEASE$.	false
+799a9a5d43122054538143e18b24332d6ac6b232	@DISEASE$ with @PHENOTYPICFEATURE$, hypomyelination, and cerebral atrophy.	false
+16579e1ba09f8c383449ea64c19d0e0e3e2316dc	The pain, muscle weakness, @PHENOTYPICFEATURE$, and sensory disturbances illustrate the severe neurological complications which may occur in @DISEASE$, especially at later age.	has_symptom
+8fa9a7072f25b0a4c38aa6af26037c9ca7978aa3	The pain, @PHENOTYPICFEATURE$, @DISEASE$, and sensory disturbances illustrate the severe neurological complications which may occur in Marfan syndrome, especially at later age.	false
+8f081d4d2f798866d678c3e13e67e40137dfbff8	The pain, @PHENOTYPICFEATURE$, muscle atrophy, and sensory disturbances illustrate the severe neurological complications which may occur in @DISEASE$, especially at later age.	false
+67b386fbdefa26d504b386f0f61134dca38a2c44	A case of @DISEASE$ phenotype associated with @PHENOTYPICFEATURE$.	has_symptom
+992670b83671b9756e2047a9a0bf21a7564fe255	A 56-year-old woman with @DISEASE$ who had been treated with prednisolone, cyclophosphamide, and azathioprine for 2 months presented with @PHENOTYPICFEATURE$, hematuria, and abdominal pain for 2 days.	has_symptom
+1f88a8ebe45ec3e30840d901318528d7d8a3cd5c	The anti-Jo-1 syndrome characteristically presents with myositis, shortness of breath, @PHENOTYPICFEATURE$, polyarthritis/arthralgia, mechanic's hands, @DISEASE$-like skin lesions, signs of a connective tissue disease and/or Raynaud's phenomenon.	has_symptom
+c7fc72f1dfff88d10ba9e8d604fc5de72ce42959	The main manifestations of this group of Jo-1 syndrome are weakness, arthritis and interstitial lung diseases, and @DISEASE$-like skin lesions, @PHENOTYPICFEATURE$, Raynaud's phenomenon, and mechanic's hands can also be seen.	has_symptom
+34a0e6cfb63cf5b9b1f57a5c1d927efec7c8de8e	A 65-year-old male patient with primary idiopathic @DISEASE$ and on regular immunosuppressive therapy was admitted to our Department for @PHENOTYPICFEATURE$ and dyspnea.	has_symptom
+160fe8e6bf990d7ab095f2c325e768a987da0155	A 68-year-old woman with interstitial lung disease related to @DISEASE$ and systemic scleroderma was admitted to our hospital with @PHENOTYPICFEATURE$ and dyspnoea.	has_symptom
+b20fcf8be8976b573947dcfed4d1ebd0e1118899	We present three patients diagnosed with TB pyomyositis: a 46-year-old man with @DISEASE$ (DM) and hepatitis B who presented with @PHENOTYPICFEATURE$, muscle weakness, and an abscess at the right proximal arm; a 71-year-old immunocompetent male, with a past medical history of tuberculous lymphadenopathy in childhood, who presented with a 2-month history of fever and pain at the right thigh, and a 44-year-old woman with systemic lupus erythematosus (SLE) on prednisone and methotrexate who presented with skin eruption at her thighs mimicking lupus panniculitis.	has_symptom
+835f2aa3f3b96e8555f581793a164af7ee809f4e	An infant with a variant of @DISEASE$ (characteristic facies, valvular and peripheral pulmonic stenosis, @PHENOTYPICFEATURE$, intrahepatic cholestasis) and a severe tubulointerstitial nephropathy is described.	has_symptom
+66f0eb8e703357be3a10385b1bb390402306bba8	Here, we report a unique case of a patient diagnosed with @DISEASE$ who was found to have a previously undescribed frameshift pathogenic mutation in the JAG1 gene and who presented with xanthomatosis and levels of @PHENOTYPICFEATURE$ more than 2 times higher than those previously reported in the literature.	has_symptom
+c5f50e11dcfbacbde39da19a9a68d444d7dfd8e2	This report describes a 3 year-old girl with @DISEASE$, hepatic cholestasis, systemic hypertension, @PHENOTYPICFEATURE$, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	has_symptom
+ffbf2fe78d93f6fc3842fa74569cab8f9ea3ae6e	This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, @PHENOTYPICFEATURE$, hypercholesterolemia, @DISEASE$, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	false
+cd476115dee4add93890553cc79e1263750926e5	This report describes a 3 year-old girl with @DISEASE$, hepatic cholestasis, @PHENOTYPICFEATURE$, hypercholesterolemia, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	false
+2912c4978f1e2e2ba4fa482c04f3e77668ceb59a	This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, @PHENOTYPICFEATURE$, @DISEASE$, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs).	false
+fa11dad7fdce58360f4db3144aa7f830944cb134	@DISEASE$ with @PHENOTYPICFEATURE$ and cerebellar atrophy.	has_symptom
+cac671ed1dee14adb8ab984765c120bf06ece6d5	This locus overlaps with @DISEASE$ (SCA4) which shows @PHENOTYPICFEATURE$ with prominent sensory axonal neuropathy.	has_symptom
+7f884fa964549359ed6059fa627b3dac6a56cee7	@DISEASE$ (SCA4), also known as 'hereditary @PHENOTYPICFEATURE$ with sensory neuropathy', represents a very rare, progressive and untreatable form of an autosomal dominant inherited cerebellar ataxia (ADCA).	has_symptom
+5afbef7873b0c69886ef22fa64cf6b5481d29948	@DISEASE$ (SCA4), also known as 'hereditary ataxia with sensory neuropathy', represents a very rare, progressive and untreatable form of an autosomal dominant inherited @PHENOTYPICFEATURE$ (ADCA).	has_symptom
+003c935941e6b72fee7a760c8b5f932cca258277	The keratoconus and acute corneal hydrops in these patients probably resulted from chronic traumatizing mannerisms common in other patients with @PHENOTYPICFEATURE$ and are not specific for the @DISEASE$.	has_symptom
+0378d15b069566cc8daa6b8a34d0344b87f6cc62	The most common abnormalities in the @DISEASE$ are hearing loss, @PHENOTYPICFEATURE$, cardiac malformations, and eye defects.	has_symptom
+c3edc99bea4a73e725847d56fdf1967ccf5ab058	A male patient born to a mother who developed rubella during the tenth week of gestation presented a typical @DISEASE$ with @PHENOTYPICFEATURE$, neuro-sensory deafness, hypoplasia of the dental enamel and chorioretinitis.	has_symptom
+01b0a579e667e9d85d0e0e201e9329aa814e682f	A male patient born to a mother who developed rubella during the tenth week of gestation presented a typical congenital rubella syndrome with @DISEASE$, neuro-sensory @PHENOTYPICFEATURE$, hypoplasia of the dental enamel and chorioretinitis.	false
+3345c10189a43e4e1c2ccf5ea6098cb35ad307b7	A male patient born to a mother who developed rubella during the tenth week of gestation presented a typical congenital rubella syndrome with mental retardation, neuro-sensory @PHENOTYPICFEATURE$, hypoplasia of the dental enamel and @DISEASE$.	false
+54370070637137523259e68c1d806d68b4794bfa	A male patient born to a mother who developed rubella during the tenth week of gestation presented a typical @DISEASE$ with mental retardation, neuro-sensory @PHENOTYPICFEATURE$, hypoplasia of the dental enamel and chorioretinitis.	false
+d449c62a4976dd55b6627410dcf024c5a7675fdf	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, @PHENOTYPICFEATURE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	has_symptom
+753d6ccab020b0a5913002a43f67526f138a5d6f	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+58397924c49912e87c41e75fe7288a2d3c1eb4e6	A 2-year-old patient, diagnosed with @DISEASE$ including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+1edaaaadcd3c447145717c6f5359eebed0d2d3c1	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+3becd9ffbfb103ddbf2431240bdc51ca41bdd211	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+f03b030ae03a4351b2698c298c65663025cb44a2	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @DISEASE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+580570537508323a2e4f0a2dd1686478ae97cf51	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+3d80c57a32099687f6b1b3ea51dc661c758fdbea	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+ff6aa023d341fb914d01000e12a1bec615ce20c0	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+771ac9e05fa35305cce0cfaff66b2e2a413d5af3	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+b9a422cdb087218e5cf6b4d3cca0de7d44a5a270	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+220a18aa91c98c8f35e611ad6ce2bc98c7abf280	A 2-year-old patient, diagnosed with @DISEASE$ including sensorineural deafness, congenital heart disease, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+a8838f32a10f2351d88a7ca36ecc1f2a6f02f65a	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+93d9abe29342cb75719cd95f5fb4cbc5e8bf6731	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+67dfea7bcb77881b734dd2466c77956b8418159c	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, microcephaly, microphthalmia, and congenital @DISEASE$, presented to our clinic for the surgical treatment of cataract.	false
+85f8631aa396de9a3a1e683ac2fe193ece60dbec	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, @DISEASE$, intellectual disability, microcephaly, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+23fde2c98920c5a31215c55beb14170980c476be	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, microcephaly, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+b657bcd62c09f547b299f4ab892a4b981bcca18a	First recognized in 1941, @DISEASE$ (CRS) can manifest with a diverse range of symptoms, including congenital cataracts, glaucoma, and cardiac defects, as well as hearing and @PHENOTYPICFEATURE$.	has_symptom
+068f06e92eebfec092418b1b4643369e2da6436d	First recognized in 1941, congenital rubella syndrome (@DISEASE$) can manifest with a diverse range of symptoms, including congenital cataracts, glaucoma, and cardiac defects, as well as hearing and @PHENOTYPICFEATURE$.	has_symptom
+b40af651d079e186da1ad2cd397a05f589fe6385	Keratoconus and acute hydrops in @PHENOTYPICFEATURE$ patients with @DISEASE$.	has_symptom
+743de5662f05765c7eb05316d27d25913a222dc8	@DISEASE$ is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, congenital heart defects, deafness, and @PHENOTYPICFEATURE$.	has_symptom
+c08ae4cfb956e9c350380c6aadac03a247d4fe44	CRS is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) @DISEASE$, congenital heart defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+1b3e0e8a045606a67d47736e04edd692f52d1504	@DISEASE$ is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, @PHENOTYPICFEATURE$, deafness, and mental retardation.	false
+ea6b7ffdc2bd8ccdd5c000cc46ed8c452a0c113c	CRS is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, @PHENOTYPICFEATURE$, deafness, and @DISEASE$.	false
+e110ad4f143f83ab3b2fdd6c63f0bf408cf2b28e	CRS is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, congenital heart defects, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2ebe2715ebc052e38110e86b010c76abddff1c2d	@DISEASE$ is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, congenital heart defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+6e7f04c505b705ee78c96e1f5b761f60f5c3c1e2	CRS is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) @DISEASE$, @PHENOTYPICFEATURE$, deafness, and mental retardation.	false
+6725d73b42340a58f936e637a1bf3de2a81d184b	Serious manifestations of @DISEASE$ include deafness, cataracts, cardiac defects, @PHENOTYPICFEATURE$, and death.	has_symptom
+0ef0176e01aedabedda1456193e19eb01d004c71	Serious manifestations of CRS include @PHENOTYPICFEATURE$, cataracts, cardiac defects, @DISEASE$, and death.	false
+da49ae6c3fd2329a1fa89a1af8d117661ea67585	Serious manifestations of CRS include deafness, @PHENOTYPICFEATURE$, cardiac defects, @DISEASE$, and death.	false
+de26bb428e4434c2145d598a6380731c87c58ba3	Serious manifestations of @DISEASE$ include @PHENOTYPICFEATURE$, cataracts, cardiac defects, mental retardation, and death.	false
+911270025835c095ad333a882e2521dd686763ed	Serious manifestations of @DISEASE$ include deafness, @PHENOTYPICFEATURE$, cardiac defects, mental retardation, and death.	false
+2a0a8e071da5b2e2789a9cdc41aea20083dd6151	@DISEASE$ represents a complex childhood @PHENOTYPICFEATURE$ that can be treated effectively by means of a ketogenic diet.	has_symptom
+86d7a2dc08d88c06e58176146f2692995c03eca8	@DISEASE$ is mainly characterized by @PHENOTYPICFEATURE$ and severe language disorder without epilepsy.	has_symptom
+cdcbd68cf23b1763b2357c0332cce4d847f245cd	In two female siblings with @PHENOTYPICFEATURE$ who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, @DISEASE$ was identified as a new genetic defect in creatine metabolism.	has_symptom
+7c5645dc53f5eb3bb75b2fc471557bef9335ddd2	Characterized by @PHENOTYPICFEATURE$, language impairment, and behavioral disorders, @DISEASE$ is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features.	has_symptom
+cfac327909d3e60023e6e7299ad1b5023969c435	Characterized by @DISEASE$, @PHENOTYPICFEATURE$, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features.	false
+0ce00e446118c3e63f59e18ad4af04ca1b1f1958	Characterized by mental retardation, @PHENOTYPICFEATURE$, and behavioral disorders, @DISEASE$ is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features.	false
+440aca2190911888680f692248d496027caeba4d	This study reports on two individuals with @DISEASE$, manifesting typical hallux and pollex findings, global developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+dc21b8fa4c1e7c3e20d2db99c0efa5cf25326d16	Conversely, a link between @DISEASE$ and @PHENOTYPICFEATURE$ has not been clearly demonstrated.	has_symptom
+ca6026a475ccc54af03edd3b455d75474e54cac7	To date, there is no demonstrated association between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+fe2486ff423f50548fde809108524eac62070fcd	Four weeks following autologous bone marrow transplantation for @DISEASE$, a patient developed @PHENOTYPICFEATURE$, hepatomegaly, coagulation disorders and pancytopenia.	has_symptom
+23f692cc9d021d515d6edd8d68f11391d4ca52b9	We report an extremely rare case of adult extrarenal @DISEASE$ (WT) in a 52-year-old woman who presented with @PHENOTYPICFEATURE$ and abdominal distension.	has_symptom
+f2d9d3d5d29bd6022ce78a20f9043737cd002615	The @DISEASE$ is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to @PHENOTYPICFEATURE$, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	has_symptom
+8c44b7a3d84ea6ed5f0cde0967cf5201b60e5785	The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, @PHENOTYPICFEATURE$, and typical facial changes including microcephaly, @DISEASE$, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+38b3918f4aff2da45fef1f93840479e9e53eeb03	The Pitt-Rogers-Danks syndrome is an entity characterized by @PHENOTYPICFEATURE$ and low weight of prenatal onset, moderate to @DISEASE$, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+4585b111ddc63f7d9b1e04c4fde9a975b130d8e8	The @DISEASE$ is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including @PHENOTYPICFEATURE$, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+e68e7a988f144a70ad69c3c15b83e60207104aff	The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including @PHENOTYPICFEATURE$, @DISEASE$, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+1cf39e2401527b9cc82c7190b9954487658418cd	The @DISEASE$ is an entity characterized by @PHENOTYPICFEATURE$ and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+f10b0adb4f01f57383af0ef3c8d201461d378b2d	The Pitt-Rogers-Danks syndrome is an entity characterized by @PHENOTYPICFEATURE$ and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, @DISEASE$, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+c5f14f2fce7beeb0b36d5233a56209b4c532cfc5	The @DISEASE$ is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, @PHENOTYPICFEATURE$, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+28599ecf787df641d8508b8a8c33464f19dfd49c	The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to @DISEASE$, seizures, and typical facial changes including @PHENOTYPICFEATURE$, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+e88ce14a9d139300239f84272496b1f15c30ec06	The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to @DISEASE$, @PHENOTYPICFEATURE$, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+732fbf7a479f4470c4069b68d43968f9acdfbf24	@DISEASE$ (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and @PHENOTYPICFEATURE$.	has_symptom
+84c971519fec59c212266897ca0034483f6c886f	@DISEASE$ (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+40dab7b33cedd70e45d4e941727d2a0ae949d465	Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+74d5b7111d47da1955dddeb5901ad05f8fb4a62c	Wolf-Hirschhorn syndrome (WHS) is associated with @PHENOTYPICFEATURE$ including high forehead, high nasal bridge, hypertelorism and @DISEASE$.	false
+deb62ee509e30ce7c54980000f9b4a6f7d73839f	@DISEASE$ (WHS) is associated with @PHENOTYPICFEATURE$ including high forehead, high nasal bridge, hypertelorism and severe mental retardation.	false
+d8515a68ab3a7a39725730b569fe82493480d177	Abnormal electroencephalogram, @PHENOTYPICFEATURE$, structural congenital heart disease and aborted sudden cardiac death in @DISEASE$.	has_symptom
+81aeec18ad9ce50d04ace528916091d8ffe45afe	Diagnosis of @DISEASE$ may be difficult because of the variety of clinical and @PHENOTYPICFEATURE$ and manifestations and because the syndrome may mimic infectious, neoplastic, or collagen vascular disorders.	has_symptom
+575374917cc6e12d2e4f16420cf546733de6ac35	Autoimmune hepatitis (@DISEASE$) may present with clinical, @PHENOTYPICFEATURE$	has_symptom
+6828789a3a57e7374338fe0277be7a8331e3196f	@DISEASE$ is a rare, distinctive dermatosis that can be associated with systemic @PHENOTYPICFEATURE$ or present in an "idiopathic" form.	has_symptom
+4a4db86e9aa345a08928f8770c4a3c3d5edc9b8d	In states of @DISEASE$-reflexia and @PHENOTYPICFEATURE$, however, the sensitivity to curare is greater than in normal controls.	has_symptom
+f79abf62e0d19269b258779305d1d9d172442cf3	Of subjects for whom specific neurological data were available, the majority had hypotonia (89%), and @PHENOTYPICFEATURE$ or mixed @DISEASE$-/hypotonia (49%) were common.	has_symptom
+98de62b6cc34a78ea21015e4fa5822eca92858af	The @DISEASE$ presenting as a dominantly inherited @PHENOTYPICFEATURE$ and blindness.	has_symptom
+97a23f81ed5e1c719ef37dbe7664ceaa416db912	The Stickler syndrome presenting as a dominantly inherited @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8a8da4fa2d27a6e537ac06e6eefd1f9492516cb0	The @DISEASE$ presenting as a dominantly inherited cleft palate and @PHENOTYPICFEATURE$.	false
+418804391036dff95fae94b49731a5bf4c1cb216	@DISEASE$ may be revealed at birth (25% of cases) by a combination of @PHENOTYPICFEATURE$, retrognathism, and micrognathism known as Pierre Robin sequence, which may cause neonatal respiratory problems.	has_symptom
+c6dc443cc87750ccb6c37eddc95b092ead03258e	@DISEASE$ is an autosomal dominant multisystem disorder with characteristic midface hypoplasia, retromicrognathia, @PHENOTYPICFEATURE$ and a "moon-shaped" appearance.	has_symptom
+c692a550821b86606c65ff0325baaf5fa33b8ff3	The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagnosis was based on the presence of @PHENOTYPICFEATURE$ associated to facial and ocular anomalies of @DISEASE$.	has_symptom
+261a388afd8836663c4dcf29e585c013f83bf889	The phenotypes of @DISEASE$ include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as @PHENOTYPICFEATURE$ and midline facial hypoplasia.	has_symptom
+c0656d446b556ae082644f410d1b28c088d860e6	The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as @DISEASE$ and midline @PHENOTYPICFEATURE$.	false
+6f9703d4bd778eb1ac088bd8251920ec46f1c9d9	The phenotypes of @DISEASE$ include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline @PHENOTYPICFEATURE$.	false
+a9da3a7fb71a7b57381e9e61da8076f043c0ffc2	The phenotypes of Stickler syndrome include congenital high @DISEASE$, retinal detachment, premature joint degeneration, @PHENOTYPICFEATURE$ and craniofacial anomalies, such as cleft palate and midline facial hypoplasia.	false
+276a450bc8eb0c90d910e83cacda5edf2a1bbdd0	The phenotypes of Stickler syndrome include congenital high @DISEASE$, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline @PHENOTYPICFEATURE$.	false
+c6838950397f624a2f84268a745f4690905d9075	The phenotypes of Stickler syndrome include congenital high myopia, @DISEASE$, premature joint degeneration, @PHENOTYPICFEATURE$ and craniofacial anomalies, such as cleft palate and midline facial hypoplasia.	false
+e66936df0099fb316a4377cccce7958f8e102137	The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, @PHENOTYPICFEATURE$ and craniofacial anomalies, such as @DISEASE$ and midline facial hypoplasia.	false
+d81be020705f647a1021f6bcf24c80fe802372ee	The phenotypes of @DISEASE$ include congenital high myopia, retinal detachment, premature joint degeneration, @PHENOTYPICFEATURE$ and craniofacial anomalies, such as cleft palate and midline facial hypoplasia.	false
+f17be3210d4187f298efc3346d746277bfcc74e5	The phenotypes of Stickler syndrome include congenital high myopia, @DISEASE$, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline @PHENOTYPICFEATURE$.	false
+abd9ed6b532c154da95eefee7b2805dcbe6669fa	The aim of this series was to evaluate the outcome of a group of @PHENOTYPICFEATURE$ children with @DISEASE$ in a large tertiary children's hospital in New South Wales.	has_symptom
+83a6ef093799fea5590cc9c1048637a05438a993	Retrospective review of @DISEASE$ patients with @PHENOTYPICFEATURE$ 1997-2004.	has_symptom
+254ecc7f43194ae2010e3b4654122b7e813ebc02	@DISEASE$ (SS) is a collagenopathy characterized by arthropathy and vitreoretinopathy with high myopia and @PHENOTYPICFEATURE$ as common features.	has_symptom
+f2332763db894d8f92aa401dff492ccc854351fc	Autosomal recessive mutations are rare and described in patients with @DISEASE$, early-onset myopia and non-syndromic @PHENOTYPICFEATURE$.	has_symptom
+c426ec973c1bb0f38cac64761ff1dd90fd010929	Many cases variously reported as Wagner's disease, familial retinal detachment, hyaloideoretinopathy with @PHENOTYPICFEATURE$, and the Pierre Robin syndrome probably were the @DISEASE$.	has_symptom
+3b10b6af1f1dac2d72fd08b6edddd3f16e7b8657	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @PHENOTYPICFEATURE$, and dental anomalies.	has_symptom
+778ca895bbad6bcb451eff3ade1670d3d3a4fefb	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, proportionate short stature, and dental anomalies.	false
+27216c7d82d90702da0c9c0bb688159f6cb84bdb	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+0e07deec04743aa1c82f36a342aefcc2d198ae51	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+cf8d151170a15241a544a1e7d95749b72d40d030	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, @DISEASE$, and dental anomalies.	false
+70609964dce41c10618436f8134efb46a2bc8b6f	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, @DISEASE$, proportionate short stature, and dental anomalies.	false
+70cbbcc04e0b34744d94f8c3bbf0d2966407b58e	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, @DISEASE$, and dental anomalies.	false
+01b6477a920492abf9dfe2e7e989fd76cc23e53e	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+9ddb112640f409ef5d69b300f4571784d439941e	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital @DISEASE$, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+ae9f037211bc9a5e392ea91ff50e361f07525329	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, microphthalmia, hypotrichosis, @DISEASE$, proportionate short stature, and @PHENOTYPICFEATURE$.	false
+1614a56ee7047f41779f8dd032114f1b2141636b	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital cataracts, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+71ac32b553d961c1facbac602b4c0ecb1cd099c8	The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, @PHENOTYPICFEATURE$, congenital @DISEASE$, microphthalmia, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+3fdc80bb89074e2b56e7160476377e154978859a	The @DISEASE$ (HSS) is a rare congenital disorder characterized by dyscephaly, birdlike facies, hypoplastic mandible, congenital cataracts, @PHENOTYPICFEATURE$, hypotrichosis, skin atrophy, proportionate short stature, and dental anomalies.	false
+902a5491ad34160ff0f23ef6334c0fe01ada116c	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, micrognathia and @PHENOTYPICFEATURE$.	has_symptom
+2bef3f80c91e75bbcfab4a9c66e5bf7464b6ef33	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, micrognathia and proportionate short stature.	false
+402bc7a2b6b12f298528e73dd8d4debebe0a1f85	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+839b4c6f1954300280df6b83dbbcb163a78a83f9	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, cataracts, @PHENOTYPICFEATURE$ and proportionate short stature.	false
+7bdb69eb9d513ef1a9015728ef4f976ca0dfdf5b	The @DISEASE$ is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, cataracts, @PHENOTYPICFEATURE$ and proportionate short stature.	false
+df6752e02c5ae09845b536bdb1b45f1061727421	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, @PHENOTYPICFEATURE$, micrognathia and proportionate short stature.	false
+e9ddd0439706ae995daa188f76a8058878b988de	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, micrognathia and @DISEASE$.	false
+b3fb4737f32f311c17f57c28fd0eb6b4d7d4e4d8	@DISEASE$ (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and @PHENOTYPICFEATURE$.	has_symptom
+7593b4c19bdb82e9bf9da29fec867901bee4cba9	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	has_symptom
+48b29579455d5288d2d5d2f2488b0acc39da8efb	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+546ad429f88881a8dc7116dac3101e2652123e37	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, @DISEASE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+879108e52a871d49d8938fcb4891658f3524b6f3	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, @DISEASE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+2fe4798f0ecf728788b54e2702bb33ecfaf0cd12	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+c35582c002b61ccf14775d5278dc3d1df0a35dff	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, @DISEASE$, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+3dc2b75a4aa69d4052c6f966f3663262a6c88997	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, @DISEASE$, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+bb3f79ebd7925b2b9c4fd800ecd5c892e1dcd509	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+4b75eb565fc426343fc9d2735b7f740a6db0bd9e	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+86b8638238d3828e2ac09a3995ef107f2aff304c	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+fd40d51c73683c025bbe80928084b10c59cb5c78	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+ec0082d68784a0040df2a35a3def1eeb05ee57db	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, @DISEASE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+c9721d8a045c8362c32880600cb640935070da33	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, @DISEASE$, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+19edc53b8b0152ed91b77c62d4749b82e0c0ecf3	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	has_symptom
+c298e4fd700495f454ea1e441ee92457e7971da9	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and @DISEASE$.	false
+aa25c046951a9b844ecd1ed2cd87039071aec31c	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+1e4e608ea4f836e98d0498d47453eae63d8e5722	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+d614b36a38de7c81ad7a69bc5f5fdbfab9963c16	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+13ada9d0c9640746e891d458421ec004df46df60	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and @DISEASE$.	false
+50b1eecf849fbcd7c58aefcd188c53713da8173a	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+28cc52151101caf1d2aa6b39fdc19fab0b52cd09	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+4d1b0fcaa971349e67da97be2da2f381cf4f80cf	The @DISEASE$ is characterized by dyscephaly, hypotrichosis, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+afee6bdf54814f1eb0d57e00ea404b22a78ca84b	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b96d3976e2b390187a231147da67f25b2cb97594	Mitochondrial neurogastrointestinal encephalomyopathy (@DISEASE$) syndrome is a rare, multisystem disorder characterized clinically by @PHENOTYPICFEATURE$, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy.	has_symptom
+06c1f1e12754f77ce8b82d08b2f6d345274df751	@DISEASE$ (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by @PHENOTYPICFEATURE$, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy.	has_symptom
+d115f2c70d66a875f62cd5080616e8a1e0f6463b	Leukoencephalopathy is a hallmark of @DISEASE$ (MNGIE) a devastating disorder characterized by @PHENOTYPICFEATURE$, ophthalmoparesis, gastrointestinal dysfunction and polyneuropathy.	has_symptom
+f4432aa4c8c5c3dd57b6868d6a53c99c38fb59ad	@DISEASE$ (MNGIE) is characterized by leukoencephalopathy, peripheral neuropathy, @PHENOTYPICFEATURE$, ophthalmoplegia, and gastrointestinal dysmotility.	has_symptom
+09ca80e62d27a1e33240dd8fb51cf14d13d70d0b	Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by leukoencephalopathy, @PHENOTYPICFEATURE$, @DISEASE$, ophthalmoplegia, and gastrointestinal dysmotility.	false
+39c59685fa41857f9a79896b43d4ce47b0949b17	@DISEASE$ (MNGIE) is characterized by leukoencephalopathy, @PHENOTYPICFEATURE$, ptosis, ophthalmoplegia, and gastrointestinal dysmotility.	false
+831c7234396838d8e6400df5f6d010f7eaeb8135	@DISEASE$ (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, @PHENOTYPICFEATURE$, leukoencephalopathy and neuropathy.	has_symptom
+c8e800c6a3681fb7d60c908c33a220cf48e3b77b	@DISEASE$ (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.	has_symptom
+ada9b52534a26f1c2e3633c1b31d7c2a7ea6876f	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by @DISEASE$, gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, and leukoencephalopathy.	false
+e041b4c6f28018d6c24b17031a4ee58d32fe092b	@DISEASE$ (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, and leukoencephalopathy.	false
+70677353fe4b7b7feb1816ef66201440a6ec11a8	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, PEO and/or @PHENOTYPICFEATURE$, peripheral neuropathy, and leukoencephalopathy.	has_symptom
+df57dfec1027aa6ec7cd004b15e201f1598f4468	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, PEO and/or ptosis, @PHENOTYPICFEATURE$, and leukoencephalopathy.	false
+fc80857bc9f2e90a4c4572f3fd2ddbbd520982b5	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, PEO and/or @DISEASE$, @PHENOTYPICFEATURE$, and leukoencephalopathy.	false
+f90d24dcd60e9baecef25cb16ed27e49084e0453	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, peripheral neuropathy and leukoencephalopathy.	has_symptom
+40c745d9243179d7a4d0e5fca8732ac0006bc455	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, @PHENOTYPICFEATURE$ and leukoencephalopathy.	false
+1e27c7976340ff86932563adbf3e1d1b39baee79	Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, @DISEASE$, @PHENOTYPICFEATURE$ and leukoencephalopathy.	false
+419d3d10a18a5f92e96af51051b0a4fe29be7986	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy.	has_symptom
+f22beb6cd2f06448bef17b1f362175efa142891b	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, @DISEASE$, ophthalmoparesis, @PHENOTYPICFEATURE$ and leukoencephalopathy.	false
+7b570362cb37566edcc2193b58294322a5420d82	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, @PHENOTYPICFEATURE$ and leukoencephalopathy.	false
+9b7cf01cc44e4e2d1129c21fe1de1c4c21efa97c	@DISEASE$ is characterized by gastrointestinal dysmotility, cachexia, @PHENOTYPICFEATURE$ with external ophthalmoparesis, neuropathy, leukoencephalopathy and laboratory evidence of mitochondrial alteration.	has_symptom
+7fc7d401c5bb028f59831d04a4886581d3e5401f	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and progressive external ophthalmoplegia, peripheral neuropathy, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy.	has_symptom
+17f022c1a6a2fe7629acda8508a6e72397ec685a	@DISEASE$ (MNGIE) is an autosomal recessive disorder characterized by ptosis and progressive external ophthalmoplegia, @PHENOTYPICFEATURE$, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy.	false
+b8b2a33584585bed9e1236f44467975abf773368	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by @DISEASE$ and progressive external ophthalmoplegia, @PHENOTYPICFEATURE$, severe gastrointestinal dysmotility, cachexia and leukoencephalopathy.	false
+76f3790f405912e0ba5360fdafbdfc8f2834dd3d	The neurological deficits were as follows: abnormal tone and spasticity were present in all of them with exceptional of a single patient with @DISEASE$ who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or dystonic movements of limbs in 22 patients, @PHENOTYPICFEATURE$ in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	has_symptom
+1a50a71f839166b94cdfe7dad8ddf5295f996235	The neurological deficits were as follows: abnormal tone and @PHENOTYPICFEATURE$ were present in all of them with exceptional of a single patient with MIH who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or @DISEASE$ movements of limbs in 22 patients, seizures in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	false
+4cf9416e1751d5afe8751de96a1492904b7dd0f4	The neurological deficits were as follows: abnormal tone and @PHENOTYPICFEATURE$ were present in all of them with exceptional of a single patient with @DISEASE$ who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or dystonic movements of limbs in 22 patients, seizures in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	false
+530dbabb275813fa21b32d303363a00d0689f4ff	The neurological deficits were as follows: abnormal tone and @PHENOTYPICFEATURE$ were present in all of them with exceptional of a single patient with MIH who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or dystonic movements of limbs in 22 patients, @DISEASE$ in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	false
+015736afea0efe15b4b78f3cd4081f3536129200	@DISEASE$: @PHENOTYPICFEATURE$ with joint dysplasia (MIM 186550): a second family.	has_symptom
+8f0a8ec1444d4e8ad63b95e3d90d7f8ce00dd2e5	@DISEASE$ (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and @PHENOTYPICFEATURE$.	has_symptom
+fae398e3a03ef1a45d0b6904f026733ca338c8f9	@DISEASE$ is an aggressive, almost uniformly fatal @PHENOTYPICFEATURE$, caused primarily by exposure to asbestos.	false
+5e2bf4913b7920d22ea5c24b70469b489a289b69	The histopathological and immunohistochemical examinations of the @PHENOTYPICFEATURE$ verified the diagnosis of a @DISEASE$.	false
+0131ed68c1f3d672e16004d1e8e08b4dddccff46	Peritoneal @DISEASE$ is a rare @PHENOTYPICFEATURE$, less common than its pleural counterpart.	false
+c2c4f079ccd8fa4b47c906c130a5d7a39296b211	A 12-year-old girl who underwent a splenectomy followed by heterotopic splenic autotransplantation for treatment of hypersplenism secondary to @DISEASE$ at the age of 3 years presented with acute lower @PHENOTYPICFEATURE$.	has_symptom
+1c3a4e7f39f435f424aee012c0f8ecda4db42931	@DISEASE$ in a patient presenting with hip and @PHENOTYPICFEATURE$.	has_symptom
+d0f98dbbd14449b54990e1b43e9b3dae2b99b193	Ganglioside @DISEASE$ is a rare autosomal recessive metabolic disorder characterized by infantile onset of severe irritability and epilepsy, @PHENOTYPICFEATURE$, developmental stagnation, and cortical blindness.	has_symptom
+bdfca3ea94ee885f175de0fde97480aec8aa2834	To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in @DISEASE$ (WDSTS) and @PHENOTYPICFEATURE$ (ID)/developmental delay (DD).	has_symptom
+d1942f1cd8c7e226811df295f8af3ff8c54bedb6	@DISEASE$ (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, and dysmorphic facial appearances (down-slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows).	has_symptom
+d308bd9f0d9cae407665dd78dae4de15b9c50cae	@DISEASE$ is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+3a2140346a1d74f9852a8ec69a75443b439b5e9d	Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, @PHENOTYPICFEATURE$, short stature, developmental delay, and @DISEASE$.	false
+1c2e91b17cc260d3992b9fd64215dd24135ccea2	@DISEASE$ is a genetic condition associated with dysmorphic facies, hypertrichosis, @PHENOTYPICFEATURE$, developmental delay, and intellectual disability.	false
+0ba69502d1167c539ca47115e889d9dc1c56a3bd	@DISEASE$ is a genetic condition associated with dysmorphic facies, @PHENOTYPICFEATURE$, short stature, developmental delay, and intellectual disability.	false
+6acd267cdbba6f5b5311e19aba4512c6a5d0119f	Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+1447fe05a12d384c6e63a0e6aa7c1923a0b27348	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, @PHENOTYPICFEATURE$, and distinct facial features.	has_symptom
+1981ee8db3a1a60757b5f67a0a4bb0a109afdd8b	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, and distinct facial features.	false
+2acc19ea0d4aec2a0663f44837cf1c27e1ff28d3	mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital @PHENOTYPICFEATURE$, short stature, @DISEASE$, and distinct facial features.	false
+723a91427a723e85bf6f5e02e4756e386dcd8a29	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital @PHENOTYPICFEATURE$, short stature, intellectual disability, and distinct facial features.	false
+55f37147eb15048b96bf6980690079fc00852a37	mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, @PHENOTYPICFEATURE$, @DISEASE$, and distinct facial features.	false
+56962e6d5aa1416c333d43e45749fba478613282	mutations cause Wiedemann-Steiner Syndrome, a very rare @DISEASE$ characterized by congenital hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, and distinct facial features.	false
+5adbf913aa2443b685b4821e3b17f5b1993ea653	mutations cause Wiedemann-Steiner Syndrome, a very rare @DISEASE$ characterized by congenital @PHENOTYPICFEATURE$, short stature, intellectual disability, and distinct facial features.	false
+0c8c49fb9550e78e45d6a2d1ef910d5273e90e5d	We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of @DISEASE$ (WSS).	has_symptom
+a44ca3a9947f6e6573f745b72ce8891fb817db7c	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (@DISEASE$).	false
+0e4c7f258f3af64c001586fdfdc1bb42737878e7	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, @DISEASE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+32a04c2264e879e8192e0240fc552c3c06237832	We identified a cohort of six individuals with @DISEASE$ cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+5a47695eca6bd13d0b5625daab5a2f5b061ddb25	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of @DISEASE$ (WSS).	false
+f1b7a6653bcf002cba54b4b644a4d290067c405b	Among them, heterozygous de novo variants in KMT2A, a gene coding for histone methyltransferase, have been associated with @DISEASE$ (WSS), a rare developmental disorder mainly characterized by @PHENOTYPICFEATURE$ (ID) and hypertrichosis.	has_symptom
+c9a5cba42850ef063911c142f55550a3fb9c64a3	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	has_symptom
+e86ca60ea85fe9ef82a1febb8f6aa73d25edbb08	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	false
+422c572f23fa929566412687759e0acffc723405	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+8ec005185736aa9b9380d2a1c4734189ee75e573	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, and facial dysmorphism.	false
+c239ee02d2e9a946232ad48d849600ed59dfc43c	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+f047b5100ac4590bfe612c13756278eeb3b843d1	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	false
+efa6f7a871eaf3f7a382a3ce0f8c07bd8ad4f456	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+c3b7e6f944bb5a9789ebc70d1594b71b2c856211	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	false
+d92378fbac8e8180a24ffcc840c05f5d4a16922c	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+62704b057828a31562ca9edc532e844dfbb276b9	@DISEASE$ (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and @PHENOTYPICFEATURE$.	has_symptom
+3e1a7ac367b162fb6cf14609bdadc1aa6d73a172	@DISEASE$ (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, @PHENOTYPICFEATURE$, and mental deterioration.	false
+d3bba64b2c5e191812ebac53ba47a94f6b1eb3c4	Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fdba7f8fec554196da5b1d4723fca09d8ee0d8fb	@DISEASE$ (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and @PHENOTYPICFEATURE$.	has_symptom
+74a5f749ff68b0e49117a5e0df1598c38613108b	@DISEASE$ (HSS) is a degenerative neurologic disorder associated with progressive rigidity, dystonia, impaired voluntary movement, dysarthria, and @PHENOTYPICFEATURE$.	has_symptom
+425cb33b77819114697f6346afb7703c66cd3001	@DISEASE$ is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+ca44a2fd75698bb6a8e30b8e13516cf1c68b6341	@DISEASE$ is an autosomal-recessive brain disorder with signs of extrapyramidal dysfunction and @PHENOTYPICFEATURE$, which associate with iron accumulation in globus pallidus and substantia nigra pars reticulata.	has_symptom
+425cb33b77819114697f6346afb7703c66cd3001	@DISEASE$ is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+b41a74593b7f412b4f780e0b4bca34ab0c4dd6bc	@DISEASE$ is a rare, autosomal-recessive hereditary condition characterized by early onset of progressive movement alterations such as dystonia, rigidity, and choreoathetosis, which is usually associated with pyramidal signs and @PHENOTYPICFEATURE$.	has_symptom
+540aaebacd80723a941af1faff565132c6f5366e	@DISEASE$ associated with @PHENOTYPICFEATURE$ and laryngomalacia.	has_symptom
+46b80436043fb848d2f7c0e366e4e1668d9b9f0f	@DISEASE$ associated with @PHENOTYPICFEATURE$ and evidence of neuromuscular involvement on muscle biopsy.	has_symptom
+50fc0a3c12bc21e39fcefd3a5fc2913b74877eaf	We report on an infant with clinical features suggestive of @DISEASE$ and additional @PHENOTYPICFEATURE$.	has_symptom
+58a8b799e7dc6c8e1e8b5694f3f509f342307caf	Since its recognition as a distinct entity in 1988, an extended phenotype with @PHENOTYPICFEATURE$, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described.Autosomal recessive mutations in EPG5 encoding ectopic P-granules autophagy protein 5 (EPG5), a key autophagy regulator implicated in the formation of autolysosomes, were identified as the genetic cause of @DISEASE$.	has_symptom
+7aab29e612687c5ab35bd8d97c9ac03e41beb9c1	The JC virus (JCV), first described in 1971, is responsible for initiation of @DISEASE$ (PML), a disease characterized by demyelinating plaques and a classic triad of symptoms consisting of @PHENOTYPICFEATURE$, visual deficits, and motor dysfunction.	has_symptom
+dc096d610bdb2d51260fda69931ec519bc2d107f	The JC virus (JCV), first described in 1971, is responsible for initiation of progressive multifocal leukoencephalopathy (@DISEASE$), a disease characterized by demyelinating plaques and a classic triad of symptoms consisting of @PHENOTYPICFEATURE$, visual deficits, and motor dysfunction.	has_symptom
+412be54b7154b1e51d6c34b5738c35a26afe7a75	Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @PHENOTYPICFEATURE$, or dystonia may be affected by glutaric aciduria type I (GA 1, @DISEASE$), a not-so-rare autosomal recessive neurometabolic disease.	has_symptom
+696f30aa9b1241763e272a03c5e58358a97a4901	Infants with @PHENOTYPICFEATURE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, @DISEASE$, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.	false
+dc6dea849b2da3d207f18901a27746cf9988a39b	Infants with @PHENOTYPICFEATURE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by @DISEASE$ type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.	false
+274279075ffa90da7377d7e9ea6a96aeafc287f2	Infants with @PHENOTYPICFEATURE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, @DISEASE$), a not-so-rare autosomal recessive neurometabolic disease.	false
+08ff13c00d980be054f36f5c2118d62591155bf2	Infants with @PHENOTYPICFEATURE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or @DISEASE$ may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.	false
+52b6b997ccd43d0358352fc8ba03c33c58940e8b	Infants with @PHENOTYPICFEATURE$, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive @DISEASE$.	false
+11ba80f2e80a6c697b88e8ee8a2212f0e9186787	Acute encephalopathic crisis in @DISEASE$ results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, @PHENOTYPICFEATURE$ and secondary complications, and quite often leading to early death.	has_symptom
+5ab018c0a6a961b07d784e2a5175e34f00f629a5	Consistent with histological analyses, the @PHENOTYPICFEATURE$ observed in EAE mice was inhibited with @DISEASE$ treatment, indicating the functional significance of the neuroprotective effect of BMD.	has_symptom
+1ae17a4c120c0c14463ed81ce10dec2eaf674e80	Consistent with histological analyses, the @PHENOTYPICFEATURE$ observed in EAE mice was inhibited with BMD treatment, indicating the functional significance of the neuroprotective effect of @DISEASE$.	has_symptom
+63e5e3fbe4534d6aecc98b93ff6aae02c60baaa1	Sedative use, @PHENOTYPICFEATURE$, low FN @DISEASE$ and vitamin-D deficiency (<20 ng/ml) were seen more in fracture subjects compared to controls (p?0.05).	has_symptom
+06e5a33e0c987916844e394cb9651b837661243f	'Mechanic's hands', @PHENOTYPICFEATURE$, arthralgias, lung findings and elevated serum muscle enzymes raised the possibility of @DISEASE$.	has_symptom
+68b13fa0e3a0698a0f57f73c14526fbd45ca28b8	The @DISEASE$ is a systemic inflammatory disease associated with anti-tRNA synthetase antibodies and consisting of the clinical features of inflammatory myopathy arthritis, interstitial lung disease (ILD), @PHENOTYPICFEATURE$, Raynaud syndrome, and rash.	has_symptom
+b5a63be39fba1c6b98027f7a3bd628ddad487d86	@DISEASE$ (ASS) is a rare condition characterized by interstitial lung disease (ILD), inflammatory myositis, @PHENOTYPICFEATURE$, Raynaud phenomenon, mechanic's hand, and inflammatory polyarthritis in the setting of antibodies to amino acyl-transfer RNA synthetases, with anti-Jo-1 antibody being the most common.	has_symptom
+91f73f758d6a9bbff0d61e06506ea5fb78a56d71	@DISEASE$ was associated with inflammatory myositis (100%), interstitial lung disease (ILD) (93.9%), @PHENOTYPICFEATURE$ (60.6%), polyarthritis/polyarthralgia (54.5%),	has_symptom
+c9604d8c5bdbd056cbdedc571344c0afb8c3bd11	Recent studies revealed that such patients may also have @PHENOTYPICFEATURE$, Raynaud's phenomenon, mechanic's hand, polyarthralgia, or usually mild, self-limiting, non-erosive or erosive polyarthritis known as @DISEASE$.	has_symptom
+9eb5dffd48f6d88c989a674f12514462aaa44e93	@DISEASE$ (ASS) is characterised by a series of clinical manifestations such as myositis, @PHENOTYPICFEATURE$, mechanic's hands and diffuse interstitial lung disease (ILD), all associated with positivity to antisynthetase antibodies.	has_symptom
+fb222a346c99e5fe804b59fe24cff70cbe17829f	The authors also review several disorders that may be immune mediated, such as the @DISEASE$ (ROHHAD) syndrome and some encephalopathies with @PHENOTYPICFEATURE$ and status epilepticus.	has_symptom
+a05c4895fcc448a8256d7e634a291fd50ef2be29	The authors also review several disorders that may be immune mediated, such as the rapid onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (@DISEASE$) syndrome and some encephalopathies with @PHENOTYPICFEATURE$ and status epilepticus.	has_symptom
+6b38ff103d22eb2c85c145c22da61f06f462c88c	An 8-year old boy with genetically confirmed @DISEASE$ developed progressively worsening dementia and subclinical @PHENOTYPICFEATURE$ at age 5-6 years.	has_symptom
+8f12635f7524599e8592c20a1d5fa0c47c40b382	Autosomal recessive ectodermal dysplasia, cleft lip/palate, @PHENOTYPICFEATURE$, and syndactyly: the @DISEASE$.	has_symptom
+389a72b656ea10ed71e3bd464bc7273274078170	Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and @PHENOTYPICFEATURE$: the @DISEASE$.	false
+61ba9b949af9f593a6c3520e2843355666051482	Autosomal recessive ectodermal dysplasia, cleft lip/palate, @DISEASE$, and @PHENOTYPICFEATURE$: the Zlotogora-Ogur syndrome.	false
+826f9367bb21cbb4fc77b412ded5a1caaef3108e	Autosomal recessive ectodermal dysplasia, @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$: the Zlotogora-Ogur syndrome.	false
+4eaf8e45530c2e6320bd15d2b731adcd2f456493	Autosomal recessive @DISEASE$, cleft lip/palate, mental retardation, and @PHENOTYPICFEATURE$: the Zlotogora-Ogur syndrome.	false
+e171e546b3cd4e547815dffda872ced0770133a2	@DISEASE$ has multiple comorbidities such as osteoporosis, @PHENOTYPICFEATURE$, diabetes, hypothyroidism, and hypertension.	has_symptom
+5d5c7a74f06127cc8e3352f36ba6b326c2d6c3a9	Congenital cardiovascular structural abnormalities, hypertension, low birth weight, increased prevalence of @PHENOTYPICFEATURE$, frequent glucose intolerance and dyslipidemia are risk factors of premature mortality for cardiovascular events in @DISEASE$ (TS).	has_symptom
+11f4546312d547dd6d2b508397c985ed8d3e5303	@DISEASE$ (TS) predisposes an individual to @PHENOTYPICFEATURE$ and related metabolic disorders.	has_symptom
+5c8bbd3c2fe70268dc620dc4034a75141666f4ad	An increased risk of insulin resistance, hypertension and liver dysfunction is related to @PHENOTYPICFEATURE$ (Ob), but may be also present in normal-weight @DISEASE$ (TS) patients.	has_symptom
+1966920fb541f109888cd63f43ff5708b5783bc4	Fourteen individuals with the @DISEASE$ (gonadal dysgenesis with X chromosome chromosome abnormalities) were evaluated for @PHENOTYPICFEATURE$ using hydrostatic weighing and skinfold measurements.	has_symptom
+45078b1e8a8064236f1925435e418c4cf61127e4	In humans, @DISEASE$ is associated with characteristic phenotype including short stature, @PHENOTYPICFEATURE$, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears.	has_symptom
+15b5735cd7b132f140bdc97586efb8f31c37acf2	In humans, Turner syndrome is associated with characteristic phenotype including @PHENOTYPICFEATURE$, @DISEASE$, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears.	false
+5dfa9acbbab8d5e8a2a6f09c850acb679b2110d3	In humans, @DISEASE$ is associated with characteristic phenotype including @PHENOTYPICFEATURE$, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears.	false
+f72232e8a202cfd6497980dd50299d0c9ff667ba	Women with @DISEASE$ (TS) have increased risks of atherosclerosis, diabetes mellitus, and @PHENOTYPICFEATURE$.	has_symptom
+bb1c4fd62d72550df958b7cff6b2611e1cfc0e58	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, @PHENOTYPICFEATURE$, hyperinsulinemia and hyperuricemia).	has_symptom
+bde22a08966873550405a6660e792c8fb13e1e16	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the @DISEASE$ (e.g., hypertension, dyslipidaemia, NIDDM, obesity, @PHENOTYPICFEATURE$ and hyperuricemia).	false
+ef7c747541a77a90e20997f85b5a04af55b4da30	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and @PHENOTYPICFEATURE$).	false
+c15011deb621c1aebbf9ea59d7b8191f81f9dcf2	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, @DISEASE$, hyperinsulinemia and @PHENOTYPICFEATURE$).	false
+d31edaf0988ab190d5e13dc1cfa01f58266bb1a5	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the @DISEASE$ (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and @PHENOTYPICFEATURE$).	false
+61e0f08bf62601312954402b8fae3e7de90547b5	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, @DISEASE$, @PHENOTYPICFEATURE$ and hyperuricemia).	false
+0b4ca06ce2016130db2586e7dc8e3ae5815b1d99	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, @PHENOTYPICFEATURE$ and hyperuricemia).	false
+950ede464697f4c3fe66d57ba5f46f626fdd19d7	Individuals with @DISEASE$ should also be screened for common health issues, including congenital heart defects, @PHENOTYPICFEATURE$, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus.	has_symptom
+522a6ada5b04313d45d0dfd9e5787965c468612e	Individuals with Turner syndrome should also be screened for common health issues, including @PHENOTYPICFEATURE$, obesity, kidney abnormalities, hypertension, hypothyroidism, and @DISEASE$.	false
+278a9da620fbe0f83096f42add84127b9cfba0f2	Individuals with @DISEASE$ should also be screened for common health issues, including @PHENOTYPICFEATURE$, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus.	false
+877deacbb50cb132b0daa556b5ee879a094564bc	Individuals with Turner syndrome should also be screened for common health issues, including @PHENOTYPICFEATURE$, obesity, kidney abnormalities, hypertension, @DISEASE$, and diabetes mellitus.	false
+14ac59677b8bb8cf682f29264f786ef4cd46d75c	Individuals with Turner syndrome should also be screened for common health issues, including @PHENOTYPICFEATURE$, @DISEASE$, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus.	false
+27ce331c0696400216040ae3c3083a688ac0edc6	Patients with @DISEASE$ (TS) are prone to having metabolic abnormalities, such as @PHENOTYPICFEATURE$, dyslipidemia, hypertension, hyperinsulinemia and type 2 diabetes mellitus, resulting in increased risks of developing atherosclerotic diseases.	has_symptom
+5aee5f22296471c4f345d3c7edda6c0b64252d75	Underlying diseases were the following: @PHENOTYPICFEATURE$, infections, polytrauma, penicillin administration, nephrotic syndrome @DISEASE$, and left heart failure (1 case, each); 2 patients had no underlying disease.	has_symptom
+8eb4334a8f692af7886c8bbe26577a9af3aea62e	Underlying diseases were the following: neoplasia, infections, polytrauma, penicillin administration, nephrotic syndrome @DISEASE$, and left @PHENOTYPICFEATURE$ (1 case, each); 2 patients had no underlying disease.	false
+a41ed2bf95825052dabad90847dc00cae23e1db8	Underlying diseases were the following: @DISEASE$, infections, polytrauma, penicillin administration, nephrotic syndrome Wiskott Aldrich syndrome, and left @PHENOTYPICFEATURE$ (1 case, each); 2 patients had no underlying disease.	false
+f6a97ff98b7f38265dfc0a447127f125f0bcac1f	Underlying diseases were the following: neoplasia, infections, polytrauma, penicillin administration, @DISEASE$ Wiskott Aldrich syndrome, and left @PHENOTYPICFEATURE$ (1 case, each); 2 patients had no underlying disease.	false
+2fe3b0d655f6654ace9e6aef3476a763e3c883e4	The @DISEASE$ (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid @PHENOTYPICFEATURE$.	has_symptom
+3d9b949892869321fa9663fe78348e336d6998ad	Wiskott-Aldrich Syndrome protein (WASp) regulates the cytoskeleton in hematopoietic cells and mutations in its gene cause the @DISEASE$ (WAS), a primary immunodeficiency with microthrombocytopenia, eczema and a higher susceptibility to develop @PHENOTYPICFEATURE$.	has_symptom
+49cee66f286179c7449c0052a683162b01a9af63	Recently, experience with this treatment has also been favorable with small numbers of children who have @DISEASE$, several types of inherited storage diseases, Fanconi's anemia, thalassemia, infantile malignant osteopetrosis, and selected cases of lymphoma and other solid @PHENOTYPICFEATURE$.	has_symptom
+c7faf3e8045ba39447c102e57ddd1e40041602ab	@DISEASE$ and cerebral @PHENOTYPICFEATURE$: report of a case with localized reticulum cell sarcoma.	has_symptom
+aeb42a24ead31b063e11a9f962ad51730da54cc0	The @DISEASE$ (WAS) is a monogenic X-linked primary immunodeficiency characterised also by thrombocytopenia, eczema, and a high susceptibility to develop @PHENOTYPICFEATURE$ and autoimmunity.	has_symptom
+cf5121493fcab9ba2cd7c045e9cf06bd04b039c8	@DISEASE$ (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and high susceptibility to developing @PHENOTYPICFEATURE$ and autoimmunity.	has_symptom
+aadeaa2b1dfddc1f8bb483f8aaf5d8a13062f8e8	Underlying disorders included leukemia (70), aplastic anemia (25), solid @PHENOTYPICFEATURE$ (7), lymphoma (5), Hodgkin's disease (1) and @DISEASE$ (1).	has_symptom
+215ff08e54fa411852fabdd2a3d5d4da52c97f1a	PGD has been accomplished for both cancer-specific disorders like adenomatous polyposis coli (APC), BRCA1, retinoblastoma, Li-Fraumeni syndrome, and von Hippel-Lindau syndrome (VHL), as well as disorders predisposing to @PHENOTYPICFEATURE$ (Fanconi anemia, @DISEASE$).	has_symptom
+a992de29c1d15acd54c3349f5e5da513b8c0c0e1	Medium-chain fatty acids and acylcarnitines accumulate in @DISEASE$ (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with @PHENOTYPICFEATURE$, seizures and coma.	has_symptom
+bf44af4c968ddcb3e38ccf87b9da45c69298d9c8	Medium-chain fatty acids and acylcarnitines accumulate in @DISEASE$ (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with vomiting, @PHENOTYPICFEATURE$ and coma.	false
+97a9f22c45ce49901bf4c7189e7012f1117cc1e1	Medium-chain fatty acids and acylcarnitines accumulate in medium-chain acyl-CoA dehydrogenase deficiency (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with @DISEASE$, @PHENOTYPICFEATURE$ and coma.	false
+bd7addfdf1de9b81575761a7764cda20f123d84d	Loss of function results in @DISEASE$, a disorder that usually presents in childhood with hypoketotic hypoglycemia, @PHENOTYPICFEATURE$ and lethargy.	has_symptom
+be39bbdf6f275b3aeaf536f99074e104a6d626e9	There is no typical clinical presentation of @DISEASE$; the most frequent features are @PHENOTYPICFEATURE$ and lethargy.	has_symptom
+88359cfec4531b3e3ae5251a9f724838c8b43652	Horseshoe kidney with @PHENOTYPICFEATURE$: Don't forget @DISEASE$.	has_symptom
+3411bea3e73db1aef5597331c508a7da1199e8da	(2) All of them presented with short stature and @PHENOTYPICFEATURE$, and had similar specific somatic signs to @DISEASE$.	has_symptom
+4e928feffa6b1365579347782740fedd0015f9de	(2) All of them presented with @PHENOTYPICFEATURE$ and @DISEASE$, and had similar specific somatic signs to Turner syndrome.	false
+034b28ad8491179ac660cb30f1a8ccc8fe7eca33	(2) All of them presented with @PHENOTYPICFEATURE$ and growth retardation, and had similar specific somatic signs to @DISEASE$.	false
+2b1787381af1e4a053891d91acb387b5d9e6f939	We report on an individual with XY @DISEASE$, mental retardation, microcephaly, @PHENOTYPICFEATURE$, and multiple pterygia.	has_symptom
+006d414ad976affbec55e43d56cbf154ab4ea6e0	We report on an individual with XY gonadal dysgenesis, @PHENOTYPICFEATURE$, microcephaly, growth retardation, and multiple @DISEASE$.	false
+289227b99f6d85826087c3940c5456d19c6cd524	We report on an individual with XY @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, growth retardation, and multiple pterygia.	false
+2a8885298e9885101f25bddd9cf982d6bacd42b2	We report on an individual with XY gonadal dysgenesis, mental retardation, @PHENOTYPICFEATURE$, growth retardation, and multiple @DISEASE$.	false
+0f677da834ea8ec423ffc3753863c960aabdf6fa	We report on an individual with XY gonadal dysgenesis, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and multiple pterygia.	false
+d0a6b742669ddf25f0df8955cabc7cf0024f7ac9	We report on an individual with XY gonadal dysgenesis, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and multiple pterygia.	false
+8f4f720c7b4e24686676df1cbf40577b255b84e1	We report on an individual with XY @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, growth retardation, and multiple pterygia.	false
+ee2d5809b2191a7425e4370e434ae62c4043faa3	@DISEASE$ afflicts approximately 50 per 100,000 females and is characterized by @PHENOTYPICFEATURE$, gonadal dysgenesis, and infertility.	has_symptom
+fc5737c750c4d1b4c0ff055a0d8d501c3f604016	Turner syndrome afflicts approximately 50 per 100,000 females and is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and infertility.	has_symptom
+22d6bf53565377d803b1cee28936bb88b0a88c5d	@PHENOTYPICFEATURE$ is a major manifestation of @DISEASE$ (TS).	has_symptom
+33bf4ccebc2e3f622cb8a3b07e282201bcb8eddc	An 11.5-year-old girl with a working diagnosis of @DISEASE$ (TS) was referred for her phenotypic features and @PHENOTYPICFEATURE$.	has_symptom
+dbdab7c890f3dc17d1b56bed7bf14af6067b1094	@PHENOTYPICFEATURE$ starting before birth is a common characteristic in @DISEASE$, and its pathogenesis is still not completely explained.	has_symptom
+8a465d10777b9dcc14d906b8bc6d502aedd2e7e9	Girls with @DISEASE$ are mainly characterized by @PHENOTYPICFEATURE$ and gonadal insufficiency.	has_symptom
+340bbe7df8064cd4e0da576b32b09de710da5d9a	@PHENOTYPICFEATURE$ in @DISEASE$: aneuploidy, rather than specific gene loss, may explain growth failure.	has_symptom
+722112aec1c0a5e1b05611913f15d2c30ed119ac	The @DISEASE$, karyotype 45,X0 in the classical form, often remains undiagnosed until significant @PHENOTYPICFEATURE$ is presented and sexual maturation at the puberty fails to occur.	has_symptom
+6e51bc9e454991f1da28254e7221f2a968aea9f8	@DISEASE$ was the most common finding, but systemic vasculitis, including peripheral nerve and renal @PHENOTYPICFEATURE$, was also frequently observed.	has_symptom
+43b1ae5bdee65adea81db6adfd3202afd62257a4	Molecular genetic studies of the GHR gene in various pygmy populations may shed further light on the mystery of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+2be050879fb6ceb3cdfcee759294d3a28b340230	No difference was detected between the distribution of IGF1 alleles in Pygmies versus non-Pygmy black Africans, despite the proposal that a defect in the IGF1 gene might be responsible for @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+e3a307155f73d9b6bf39d1d068a3d6c326c1b683	In this review we summarize the existing knowledge on @DISEASE$' @PHENOTYPICFEATURE$, including evolutionary hypothesis, studies on their GH/IGF-I axis and their immune system functioning.	has_symptom
+306f041a292bf99f82bd3a241d73b5a6c6ca3e9d	Some serological evidence of deficiencies in the growth hormone/insulin-like growth factor axis have been previously associated with @DISEASE$' @PHENOTYPICFEATURE$.	has_symptom
+bcf48841428984aa41469aefd425379f4cc3fd19	Although @PHENOTYPICFEATURE$ outcome is reported to be favorable in @DISEASE$, focal seizures in patients with KABUK1 were not immediately responsive to medication.	has_symptom
+009e4bbef073266ba9adb15fc7cac9c393a74014	@PHENOTYPICFEATURE$ and EEG pattern in @DISEASE$.	has_symptom
+ec1061f12c2ee280c7349fbc5e08be4e958a5f1c	A 4 year-old boy with mental retardation and @PHENOTYPICFEATURE$ presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with @DISEASE$.	has_symptom
+f1003a2ac42aa92e61d38fb256fc215edbcf7211	A 4 year-old boy with mental retardation and @PHENOTYPICFEATURE$ presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of @DISEASE$ was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome.	has_symptom
+3da1bac3b0ae48b14b4286fbafaa1dd7984bf69f	A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of @PHENOTYPICFEATURE$; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of @DISEASE$ was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome.	false
+a60cf00378c6108f1b64f2f4c46262b6a6dc6d9f	A 4 year-old boy with mental retardation and @DISEASE$ presented to the pediatric endocrinology clinic because of a history of @PHENOTYPICFEATURE$; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome.	false
+bfb5c62ec8e09b5b7d325d69bc5b1adf08d08609	A 4 year-old boy with @PHENOTYPICFEATURE$ and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with @DISEASE$.	false
+05c5d4a9ab1bd4f29cfe7b547d989baa9723795b	A 4 year-old boy with mental retardation and @DISEASE$ presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, @PHENOTYPICFEATURE$ and other stigmata consistent with Kabuki syndrome.	false
+050fccd606332d6326a2edf653394079b1a4bde2	A 4 year-old boy with @PHENOTYPICFEATURE$ and @DISEASE$ presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome.	false
+792082ac1a23ba4ec01675cf1cffecfb9921fc12	A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of @DISEASE$ was made because of typical facial features, @PHENOTYPICFEATURE$ and other stigmata consistent with Kabuki syndrome.	false
+f63c7fce17ae1ee6aa9c86fba799b930c8b468ce	A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of @PHENOTYPICFEATURE$; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with @DISEASE$.	false
+90a0e0ccb8e9b00230e6b7096ced96216a8f7b86	A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, @PHENOTYPICFEATURE$ and other stigmata consistent with @DISEASE$.	false
+08035f7e514088c3799ae86064ed044de0deef5c	A 4 year-old boy with @PHENOTYPICFEATURE$ and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of @DISEASE$ was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome.	false
+61881ee99029d747843b281f9c5f16db23af7042	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, @PHENOTYPICFEATURE$, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	has_symptom
+01f58a466f94a960c5dbf88f352bd3e31ee48cae	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, @PHENOTYPICFEATURE$, @DISEASE$, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+35c74536b8bbfc3899bd2814072b8e823018a3c4	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, @PHENOTYPICFEATURE$, absence seizures, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+9abba0c904692efd3abb74832264f0c670d5e5d0	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of @PHENOTYPICFEATURE$, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+5ba211a5d0001ecd37eb64a57ba544e565b89a4e	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, @DISEASE$, tonic seizures, patients with diverse types of @PHENOTYPICFEATURE$, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+66237de51b031eda04071a4169aee0f520c54dcc	We consider the percentage of @PHENOTYPICFEATURE$ free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+ac1150f0042321bf3e3621d2938a6d7866de2f15	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the @PHENOTYPICFEATURE$) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, absence seizures, tonic seizures, patients with diverse types of seizures, @DISEASE$, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+195c39d53ac2685f0d4c10ef44a157e23b8c5cba	We consider the percentage of @PHENOTYPICFEATURE$ free patients and of patients who responded (reduction of 50% or above in the frequency of the seizures) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, @DISEASE$, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+ed6a7497a74f5b8273adac5ca0c82ee021c6e0f8	We consider the percentage of seizure free patients and of patients who responded (reduction of 50% or above in the frequency of the @PHENOTYPICFEATURE$) in childhood epilepsy, partial epilepsy, generalized tonic clonic seizures, @DISEASE$, tonic seizures, patients with diverse types of seizures, juvenile myoclonic epilepsy, Lennox Gastaut syndrome, falling sickness and GTCS, West s syndrome and Dravet s syndrome.	false
+9ba89c30221dad1cdc90d8bd6a6caaf3879acfa4	Patients with @DISEASE$ and additional @PHENOTYPICFEATURE$ might represent a different JME subtype with a worse outcome.	has_symptom
+3a90738e865378a9c598bbd95d0e164870bc93ff	We detected negative effects of younger age, family history, and @PHENOTYPICFEATURE$ on cognitive function in @DISEASE$ patients.	has_symptom
+dfb86b8dec0b36d9ccbab398e17f019e0929a842	@DISEASE$ always has a myoclonic component alone or in combination with generalized tonic-clonic seizure or @PHENOTYPICFEATURE$.	has_symptom
+f7465644059b3b7324f8ebbc1edb6e9ade302914	@DISEASE$ always has a myoclonic component alone or in combination with @PHENOTYPICFEATURE$ or absence seizure.	false
+e2cf17f378c5bb66097183aef771cbde06ce59c5	Juvenile myoclonic epilepsy always has a myoclonic component alone or in combination with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+8ea0f7fceec52071b0e7bda640a00079d0372256	Operative treatment combining open reduction, femoral derotation varus and incomplete periacetabular osteotomies, and capsular plication provided successful results in patients with @DISEASE$ who had the characteristics of hip instability such as ligamentous laxity, @PHENOTYPICFEATURE$ and posterior acetabular wall deficiency.	has_symptom
+e4e24de2ce0bc2d6c35538f3fd6269a04fb8a6a5	Tractional retinal detachment should be added to the differential diagnoses of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+25fe3e94977bad937ae7a2775489905239b77cc3	@DISEASE$ (RP) is a group of inherited disorders which involve photoreceptors of the retina and can lead to @PHENOTYPICFEATURE$.	has_symptom
+394f6a4f1701d07cf9f656db3b4bd3ad622736a4	The data in this study provide general guidelines for counseling individual patients with @DISEASE$ as to the potential and extent of future central @PHENOTYPICFEATURE$.	has_symptom
+834d1e5b2cbc968739b6fb8cab767168b4b66937	@DISEASE$ (RP) is a group of inherited disorders involving the photoreceptors of the retina and can lead to @PHENOTYPICFEATURE$.	has_symptom
+bbbf79fed82d61e7e2045ab2e4f7ae7bcf74cc1e	@DISEASE$ (RP) is a group of inherited human diseases in which photoreceptor degeneration leads to @PHENOTYPICFEATURE$ and eventually to blindness.	has_symptom
+7e06f9370c68cd6ca2ce54517de38dc92b256025	In severe cases this disorder may progress to total retinal detachment and @PHENOTYPICFEATURE$ in the context of longstanding @DISEASE$.	has_symptom
+a9d564b0f109dd480880358884b81dac3bb1227d	Psychosocial adjustment to @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+3422fdd898de42569c4ec5d682f741fcd507c9aa	It is concluded that relative choroidal ischaemia is closely associated with @PHENOTYPICFEATURE$ and pigment cell degeneration in patients with @DISEASE$.	has_symptom
+1720be90999baa5afb7fb09e3d0e21af890a2924	@PHENOTYPICFEATURE$ and perimetric sensitivity in eyes with @DISEASE$.	has_symptom
+44c0576fbe726b80ee3991c6345735f1daefdda9	To investigate psychosocial adjustment to @PHENOTYPICFEATURE$ in patients with @DISEASE$ (RP).	has_symptom
+851fd597e5679b7ace1be717d6c2cba1e3bf6363	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, atrophic macular changes, prominent 'flavimaculatus flecks' in the pigment epithelium of the posterior retina, and a virtually pathognomic 'dark choroid' pattern on fluorescein angiography.	has_symptom
+3e1a7ac367b162fb6cf14609bdadc1aa6d73a172	@DISEASE$ (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, @PHENOTYPICFEATURE$, and mental deterioration.	has_symptom
+719e782f12a7b3ecf1e091ee31b531a63bdb5f32	Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+62704b057828a31562ca9edc532e844dfbb276b9	@DISEASE$ (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and @PHENOTYPICFEATURE$.	false
+c5d72e7bcae90c6e67660b7038b011659b3df8a4	@DISEASE$ (NP-C) is a rare neurovisceral disease characterised by @PHENOTYPICFEATURE$ and premature death, and has an estimated birth incidence of 1:120,000.	has_symptom
+3fdd9f89ac92084499d8d6e20e716c29e55d9236	The Authors describe two monochorionic twins affected by @DISEASE$ with a clinical picture beginning in the neonatal age and with a @PHENOTYPICFEATURE$, loss of speech and spasticity started at 30 months.	has_symptom
+15f368ac6fea007083a6e0d89adc566f630ec8ef	The Authors describe two monochorionic twins affected by Niemann-Pick disease type C with a clinical picture beginning in the neonatal age and with a @DISEASE$, loss of speech and @PHENOTYPICFEATURE$ started at 30 months.	false
+6a9f45a57594b0fec507afb505f88d78d63fec7d	The Authors describe two monochorionic twins affected by @DISEASE$ with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and @PHENOTYPICFEATURE$ started at 30 months.	false
+165bb97a83263bd7c3d5f686e48880f79b6ad969	@DISEASE$ (NPC) is a rare @PHENOTYPICFEATURE$ disorder, often with onset after normal early childhood development.	has_symptom
+4e8cb2d394c05a33a61e149940c79a97b980ea1b	@DISEASE$ is an autosomal, dominantly inherited disorder affecting all of the orificial mucosa with @PHENOTYPICFEATURE$, follicular keratosis of skin, nonscarring alopecia, bouts of pneumonia, spontaneous pneumothorax, and terminal cor pulmonale.	has_symptom
+bf32208d573109720d98930f8e57086f584902fd	@DISEASE$ is a rare desmosomal gap junction abnormality known to produce keratitis and @PHENOTYPICFEATURE$ in addition to multiple systemic problems.	has_symptom
+96e0f26bc1a3364419aea3622835a203cdd3ec3a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	has_symptom
+37880626aa5e0ff67d1e087fd02ea8d388de8703	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	has_symptom
+6549bee2803056591a980babe4c5b5711a20a288	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	has_symptom
+6692cf7d87fed62e2e19057a5c8f66fe49294bba	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @DISEASE$.	false
+12c84568236b42d2c076d17b34a432122bd0dc22	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+2d9dc96e93d0b4538fec027911567f77bdb8092e	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and @DISEASE$.	false
+52519f93c1c960013674f92d810b3dc3bd7b5259	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+80a00b1bd0c06472733044e43d9766ca242db6d4	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+fb1a75693ebec5cbf237162cce85be4d50b3965b	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+8f57146dad99dd4ae7840eaf876c4080eef80813	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @DISEASE$.	false
+3b3dafeb0d8ea28b408fee1af63186d973d969cd	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+39e1771bdfd28bfb9f7266f4077601f78aaa1661	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+acc7a4dcede2a6bf2cd189be608b460a8238f4d1	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+85c84e4c07eb4971f9a1d01b213879f5bfaa04ea	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+694859f01ac0f07a8153ce326df3b6f03c50324a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+8ad0aebf4b860a62f93f7b2188096f42d617960d	An unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the @DISEASE$ including apparently low-set and malformed ears, preauricular tags, @PHENOTYPICFEATURE$, and imperforate anus.	has_symptom
+9c280d3eddae93e27389374980af1978df20817a	Partial tumor resection combined with chemotherapy for @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+56723be328a1d69b64bdf41314dd3fafbc958146	Partial @PHENOTYPICFEATURE$ resection combined with chemotherapy for multiple myeloma @DISEASE$.	false
+ad3ed489b343b59db46cebf5bb122c96fe66c3ef	Partial @PHENOTYPICFEATURE$ resection combined with chemotherapy for @DISEASE$ spinal cord compression.	false
+0b58b06864ea68a76b7f49d2ffc4c8e3bf6c6000	The condition was diagnosed tentatively as @DISEASE$ (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of @PHENOTYPICFEATURE$, in contrast with the large stature of the only two previously described cases.	has_symptom
+a4eaa2771b65621063d7989627bc8eaae5bb896f	We report on an Arab boy with @DISEASE$ and cerebral calcifications identified at 15 years while investigating a @PHENOTYPICFEATURE$ disorder.	has_symptom
+68249a8e1a281f8b879a45d07b3b4f727c50abb2	We report on an Arab boy with @DISEASE$ and @PHENOTYPICFEATURE$ identified at 15 years while investigating a seizure disorder.	false
+584810be22940b0882bc16721811af6e55da0a3a	We report on an Arab boy with Keutel syndrome and @PHENOTYPICFEATURE$ identified at 15 years while investigating a @DISEASE$ disorder.	false
+879ffef8a1ac42e36d124f764fc4dfc3b3c29c80	Here we report on 10 male patients with @DISEASE$, cleft lip/palate, @PHENOTYPICFEATURE$, lack of language acquisition, and severe central nervous system involvement.	has_symptom
+c6da13ae6a607fbc00b9bde87f8448fe6acb8a08	@DISEASE$, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, @PHENOTYPICFEATURE$, and CNS structural anomalies: another observation.	has_symptom
+0e497eb34f8fd998b71143adef9857c0fe6c3e73	Frontonasal dysplasia, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, @DISEASE$, and CNS structural anomalies: another observation.	false
+f6db4ed0501ae7b48312ccaa400cbe08a469014d	@DISEASE$, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, mental retardation, and CNS structural anomalies: another observation.	false
+ba7c5fc00f8411e637119ce14de64508256e54f8	@DISEASE$, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, @PHENOTYPICFEATURE$, and CNS structural anomalies.	has_symptom
+873443925d0a4105f857618c700cf53582eb78a1	@DISEASE$, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, mental retardation, and CNS structural anomalies.	false
+ff01bfceb1840fa79b6d7e6086dccd5379fbe77a	Frontonasal dysplasia, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, @DISEASE$, and CNS structural anomalies.	false
+f549c7515c74774ae054bc9a4a2b620e3b2e434e	The syndrome of @DISEASE$, spastic paraplegia, @PHENOTYPICFEATURE$ and blindness: a case report with CT scan findings and review of literature.	has_symptom
+24a26823d9b1ecefc0ceba39e52ae1febd90124d	The clinical, the CT scan and the operative findings of a case of @DISEASE$ with spastic paraplegia, @PHENOTYPICFEATURE$, blindness, and cleft lip and cleft palate are discussed.	has_symptom
+e28cb63f3e2596179933f2af667995c07ec029c3	The clinical, the CT scan and the operative findings of a case of @DISEASE$ with spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, and cleft lip and cleft palate are discussed.	false
+348ff4e1e0d86b0d1c0cd989d43005e3c2f9d7ad	The clinical, the CT scan and the operative findings of a case of @DISEASE$ with spastic paraplegia, mental retardation, blindness, and cleft lip and @PHENOTYPICFEATURE$ are discussed.	false
+edfa8fcdec3e0f85655b128026919eb17e402091	The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic @DISEASE$, mental retardation, blindness, and cleft lip and @PHENOTYPICFEATURE$ are discussed.	false
+cf079acd6d46266e402ce98e154137cb6f7935c9	The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, @DISEASE$, blindness, and cleft lip and @PHENOTYPICFEATURE$ are discussed.	false
+24e57aa1ea085098b7ced64acb9ed053f17a8e6e	The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$ and cleft palate are discussed.	false
+6d9b2c5b58cd35ae5cfa3173b2e846c8abf19fe5	The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and cleft lip and cleft palate are discussed.	false
+0c3ca64291980335e3e2e2dfa4fa52b1688fae40	The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and @DISEASE$ and @PHENOTYPICFEATURE$ are discussed.	false
+9e1c2b762bb7ae96261a96382052d219462790d5	The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, @DISEASE$, @PHENOTYPICFEATURE$, and cleft lip and cleft palate are discussed.	false
+c3fd8b44d8f6c32b78a8c0832b21380c17059973	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including @DISEASE$, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	has_symptom
+f95715066b586c83f9e83b5b9fe55a360e6c6b94	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including @DISEASE$, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	false
+d4469e2a487960900f0fc7aeba3f6ee2590cefe8	Acromelic frontonasal dysostosis (@DISEASE$) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	false
+c2e11dca74a00c99168d983e3756503ed7caa8bc	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and @DISEASE$.	false
+843c2b58931d5163eff5d5415274e9ed5869fcbd	@DISEASE$ (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	false
+338165d8f7d2ed8d1a52c384353f53140dd4f60e	@DISEASE$, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, @PHENOTYPICFEATURE$ and CNS structural anomalies: defining the phenotype.	has_symptom
+813bbf8f9c2f1100b2ecda2c2fca89d85acd1de6	@DISEASE$, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.	false
+6c03693e9194e1766498b73e0ebe6e3c4b3d97f7	Frontonasal dysplasia, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, @DISEASE$ and CNS structural anomalies: defining the phenotype.	false
+f307358bac5a96880b97dd5c6344b3d89da9ef92	We report the case of a 15-year-old girl admitted for @PHENOTYPICFEATURE$, who rapidly developed @DISEASE$ and died.	has_symptom
+bb1c5b4bf181900dbfe50fbec85766a4c1d4b39d	@PHENOTYPICFEATURE$ activity in patients with @DISEASE$ (ALF) may increase cerebral oxygen requirements and worsen cerebral edema.	has_symptom
+3e9e71f2acd25ee0bc1cb23a9baac8befb243005	We report the first case of @PHENOTYPICFEATURE$ secondary to @DISEASE$, shortly after initiation of regorafenib in a patient with advanced rectal carcinoma.	has_symptom
+840ab5c0c66d3ccbc3c6e08bc8743357abaa9398	Subclinical @PHENOTYPICFEATURE$ activity in the patient with encephalopathy and on ventilation with @DISEASE$ (ALF) is a poorly recognized entity.	has_symptom
+98729c2f36de64091b3890aa463a83899bc448ee	We report the first case of regorafenib-induced @DISEASE$ resulting in @PHENOTYPICFEATURE$.	has_symptom
+0c7e9d7ee4c1921dfab0133f94b21ac5fb8677c5	Subclinical @PHENOTYPICFEATURE$ activity and prophylactic phenytoin infusion in @DISEASE$: a controlled clinical trial.	has_symptom
+3bf145c2a6aa29dbe9dfdc637fb1135a4766bf4d	@DISEASE$ and @PHENOTYPICFEATURE$ as a consequence of regorafenib exposure in advanced rectal cancer.	has_symptom
+3cc10e41176acae2ac8f37ee30900d791a928967	Brain oedema is amplified by hypoglycemia, hypoxia and @PHENOTYPICFEATURE$, which are also frequent complications of @DISEASE$.	has_symptom
+f52a8607e893567dad1731a7658dfe83ab39a374	An 8-year-old boy with a known @PHENOTYPICFEATURE$ disorder that was being treated with lamotrigine developed @DISEASE$.	has_symptom
+da6a38c29fb808520b37a0dd1dc15df48e8dbb55	POLG mutations should be considered in cases of teenagers and young adults with a sudden onset of intractable @PHENOTYPICFEATURE$ or status epilepticus, and @DISEASE$.	has_symptom
+e39d4f6c03617f7867d382c0174eaf2efb751976	Symptoms of nausea, vomiting, @PHENOTYPICFEATURE$, early satiety/anorexia, bloating and total symptom score (@DISEASE$) as reported by the patients were recorded before and after the treatment at a follow up visit 2 to 16 weeks after initiation of therapy.	has_symptom
+cb9e0f0c3c6132dc37cf801c9581086e979601d1	Symptoms of nausea, @PHENOTYPICFEATURE$, abdominal pain, early satiety/anorexia, bloating and total symptom score (@DISEASE$) as reported by the patients were recorded before and after the treatment at a follow up visit 2 to 16 weeks after initiation of therapy.	false
+3fa729b3ce3e854385cb36d142201586f68275b3	Symptoms of nausea, @PHENOTYPICFEATURE$, @DISEASE$, early satiety/anorexia, bloating and total symptom score (TSS) as reported by the patients were recorded before and after the treatment at a follow up visit 2 to 16 weeks after initiation of therapy.	false
+e97792fe897c9924536682f1f256e90622e00cda	Type 2 congenital long QT syndrome (@DISEASE$) is linked to mutations in the human ether a-go-go-related gene (HERG) and is characterized by rate-corrected QT interval (QTc) prolongation, @PHENOTYPICFEATURE$, syncope, and sudden death.	has_symptom
+200fdff7541fde34ae9abe97a16e9b5074763d10	Restitution properties and occurrence of @PHENOTYPICFEATURE$ in @DISEASE$ type of long QT syndrome.	has_symptom
+0f89c383f0708c35b3e59052bf2210c8b33e3647	Here, we report on three human individuals, from two unrelated families, who presented with recurrent episodes of @DISEASE$ in early infancy and are affected by cerebellar vermis atrophy, @PHENOTYPICFEATURE$, and peripheral neuropathy.	has_symptom
+52d370eca3943a1ba4a63591a9f48186eab494c8	Here, we report on three human individuals, from two unrelated families, who presented with recurrent episodes of @DISEASE$ in early infancy and are affected by cerebellar vermis atrophy, ataxia, and @PHENOTYPICFEATURE$.	false
+3abbd70d37b925b9942c1332691d2455250b9c7d	Here, we report on three human individuals, from two unrelated families, who presented with recurrent episodes of acute liver failure in early infancy and are affected by cerebellar vermis atrophy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d52917dd6f8090b6a47abdb5fcba4430041e9ff9	@DISEASE$ (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	has_symptom
+e50e0bdc016f4491bcd0d9ec5e3614591b99c43b	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (@DISEASE$), and agenesis of the corpus callosum (ACC).	false
+6b6ca07ac7cfa3503892d79ca616a6306adf34a6	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly @DISEASE$, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+7a6830766c05bf31ffca99e8bdd47638ae66315a	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable @DISEASE$, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	false
+378e12bc3ba7008770021b5c3a3e6c3312750167	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable @DISEASE$, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+7e77bab0068bbb87fcdc2c5940ea86479fe71731	@DISEASE$ (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+c171885352a51783cf9b38db6a7b37b0cf95c135	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, @DISEASE$ (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+21247a4dceb15d72a1bfc21329de3e665dbcdd42	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple @DISEASE$ syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	false
+dad62e6b6f9c35d5412569ee861946f31f185aa9	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, @DISEASE$ (CHD), and agenesis of the corpus callosum (ACC).	false
+9d4513f0b2d3c5d4c7824bec81539325f5a1990e	@DISEASE$ (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	false
+c236a5a3d30b89c2ffb57f9c403b6f02293776a5	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly @DISEASE$, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	false
+f0ed61c1ae54b6ef9faf56553b6706d8206a6b66	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (@DISEASE$), and @PHENOTYPICFEATURE$ (ACC).	false
+43f5429a92b500e4f13c980869abeb607fb2f1aa	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), @DISEASE$, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	false
+705ba505e3554d41e900a1ca8fd62f05d383e5de	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$ (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including @DISEASE$ (HSCR), genital anomalies, congenital heart disease (CHD), and agenesis of the corpus callosum (ACC).	false
+3de586c730e379082382c25bd8907bc373eab5df	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), @DISEASE$, congenital heart disease (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+fa9985a289192b75305f84424f75d1f3eab45455	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple congenital anomaly syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including @DISEASE$ (HSCR), genital anomalies, congenital heart disease (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+9ddbaba468d78f57f939dcc0e63df4cf09922f79	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation (MR)-multiple @DISEASE$ syndrome, characterized by typical facies, severe MR, epilepsy, and variable congenital malformations, including Hirschsprung disease (HSCR), genital anomalies, congenital heart disease (CHD), and @PHENOTYPICFEATURE$ (ACC).	false
+9032d4cfcdd25b8472c82055b559d4e15492985f	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @PHENOTYPICFEATURE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	has_symptom
+4ec39c5325f7b3354ddfea9e8d3d378300237d8d	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+0689bcc63ae48759d3a694427626c25888122be1	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+6f3978e08904e5c7cc464b8ec9ba72569903b708	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+d1b5c974ceb0ffe32438e0e4fb8ade920618cca4	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @DISEASE$ (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+60e686793f66d8e78203df3bb8710fc524d33f60	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+4904d43aaf0bdd8dd5d66b2a7ab5439d209542c2	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, @DISEASE$, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+8a2e56e6fe6545baef89fdeb438c9813b9ad6d4c	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and eye defects.	false
+cac85727db16418cdfed5ebb0c9d51dc104bb94e	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+05f2ac5c962c00a299932deb5236090f59884e57	@DISEASE$ (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+db8f5f641b8cc1ec676e3466ba9b79f0c4de2ed5	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @DISEASE$ (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+3563e8f7dc966ef1ce79f447f5335c9c66092ec5	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple @DISEASE$, including genital anomalies (particularly hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$, and eye defects.	false
+21a8f3dfd29b017cb89ca3915e0d97a467702230	Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-@PHENOTYPICFEATURE$, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including @DISEASE$ (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects.	false
+4a371e302880e82102954e9f044308de7d4fd93d	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	has_symptom
+4089c3878c89912dbe85cc6e01e08cab07f9306a	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+fe936e9748b82ffa6a8a64b2f858d18982fa2d0f	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @DISEASE$.	false
+0c915ba6a21d1d71056c1da5d42d9f535efbe699	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+cd919347c5f063ad849dfe2e4452b67eb2873cb8	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+a5a61712b98851fd4a823efd78ec016b9887bcdd	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+46e709bf35f03d3008f6e4d23791bb4cd52d2f41	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @DISEASE$.	false
+5e925c8f11b7a0351e1cd62d5f54046c8bbe4c5f	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+fbd76d61e56e8fe730d460b1937af4c4c35c8925	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and @DISEASE$.	false
+806ec5cfc6ceaa03ec7c4aa48ee4934541889e90	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+b5eac832cbb5f89e6ab09f165a19e9e017ddaee7	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+3b3327dee41b1c89db65f6cbe8bd91acbfc14813	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+3f4685cd9e6e083b56b1ab803c0f1011b329f237	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+8eea92b61f868fe09f73562be23383f3b6c40064	Key manifestations include severe mental retardation, early hypotonia with progression to @PHENOTYPICFEATURE$ and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	has_symptom
+9a455ff575eb606155541ff3b460a81a116f1a9b	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and @PHENOTYPICFEATURE$, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+1c1a14a556a35e6e39124413542ed78b1e3fea5a	Key manifestations include severe mental retardation, early hypotonia with progression to @DISEASE$ and contractures, choreoathetosis, @PHENOTYPICFEATURE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+1a80ba76fb1e7aaed61bd619ba44dd266153b8b5	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+817a85dea5c50b52f00acbf0d86831398d049660	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+89f9f6bfd5173f5e78d171952f9e79a03f0209ca	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+5a9ec4c254acc2ae963243d94ff4655e67785e6d	Key manifestations include severe mental retardation, early hypotonia with progression to @DISEASE$ and @PHENOTYPICFEATURE$, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+80cd8c81fbca28f6af4fda49f14746e2d9dd7510	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to @DISEASE$ and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+e88f6326aae9c60f208ef28b09887153b907c980	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and @PHENOTYPICFEATURE$, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+9811fe5b9c42c49a79ec9c03745f1497ded90784	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, @PHENOTYPICFEATURE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+d068f52d0c32cd9ad197ebb03d90bc4afcc37f87	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, @PHENOTYPICFEATURE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+c23925c5dd7f55617fb693656e9da8ff80a19762	Key manifestations include severe mental retardation, early hypotonia with progression to @DISEASE$ and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+71aca267bb13adad3445d3db718d33b5183a01e9	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+912cf7c0e3f077adf19012bb8397ea657349b121	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	has_symptom
+90a99b677ae5affbc39dee3fbad231c9e25d9937	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@DISEASE$.	false
+a2715b7360390785312786ac7e70fa6ac1204ec0	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+ba7848f0e8990db7afe256697934ed97c20ccbba	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+5251b972ae1123a9e719c5bab82ebb0343b988e3	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+66a5fc3337ed118d5659b4d294a7c9e15a11192d	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+97923441c8efa264aa99ed781e5b625d7771335a	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/renal anomalies.	false
+6ad2489d942fd1274eb7816de4607ed9792c094c	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+25e7db6b28a987c3148df0b605e317a1aa0700f6	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+1f6895730183fd0141100561d846cefcc2bb11b9	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@DISEASE$.	false
+7969a0ea8d05b2f8673609c51bdc2f73b9f1c1e3	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/renal anomalies.	false
+1477809ff70190aa4ee260fbb90f3f94b9caf03c	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+6f1cca1dcb00d281882a143ea3ad4c9a43f378cf	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+feb07043c07359165a87668a4978f2a09021f18c	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+d53c701e2fcba4cc6e20f7a59b778198476c366e	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, and urogenital/renal anomalies.	false
+b2ad2214db9d7d320664847cc9372fa1fc8e1503	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/@DISEASE$.	false
+37a1de5a3a9e0ecc2c890d65bbc32f40c8a14332	@DISEASE$ (DH) is a blistering disease with a characteristic histology that includes papillary @PHENOTYPICFEATURE$, neutrophilic papillary microabscesses, and development of subepidermal blisters.	has_symptom
+08703747774ce02e10f724eeddcea8b09db511a4	@DISEASE$ has a characteristic histologic pattern consisting of subepidermal blisters often containing fibrin, infiltrates of neutrophils and nuclear dust at tips of dermal papillae, and papillary dermal @PHENOTYPICFEATURE$.	has_symptom
+9e70d1c0afcfaecfef9b8fe86e182bc682bc7663	In 94% of the patients with @DISEASE$, a locally applied ointment with an ester of nicotinic acid (Trafuril) induced an abnormal reaction with erythema, @PHENOTYPICFEATURE$, papules, and often vesicles.	has_symptom
+7ec49396d6563aa267fb874fadc0967314361d21	A case of N-acetyl galactosaminidase deficiency (@DISEASE$) associated with @PHENOTYPICFEATURE$.	has_symptom
+ec27519991ae3cd66b0e1adf4c613adae4198a89	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	has_symptom
+9d47ba4e9432dc77d7c3fbde377ea76a64c3dcfd	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+ccf8375c5474288d5cba337eb01e074eedd3aea9	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+b808dc1465567874a34342cff4f91e6f52a33577	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+f2ef282f1ec4956b5bcaf7f097a1a2b99c3c3be7	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+a15632efea705e7e41e4b1451dee5e825fb5dfc1	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+07fd0f86cf2e435faf1604d9c38ef209b9e01569	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+f24dad9c9e06daba3a572043d9982649a9675b87	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+25edccebfc3e2458e2b657bbfdf005658298cbd7	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+41f1d5c60376bae58b6907901a73dafb81ab1038	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+174f6729b7283bbf1498d565bc00dc33b60d512c	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @DISEASE$, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+d99d0057ae3fb8963efff1794ad919989276985a	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+229336769bc96c19e42a1bbabbb4a1a533fc4650	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+34e1945c0036a712ae04c0192a92bfee0586541a	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @DISEASE$, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+2b46380bfcafeff4d732010217091ce140b4e0a4	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+e661a208b5c34c13f3e6f2d6a8e72dd49b1fbfe1	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+9de9e04998da3e9472b62bf5a7ac144cec1a451f	We present three pairs of affected siblings with @DISEASE$, who were born with congenital microcephaly, microcornea, and @PHENOTYPICFEATURE$.	has_symptom
+9467eee83cd7b0e1b610a3006780ffaad72f80b6	Based on the function of TBC1D20 as a RABGAP and the bs @PHENOTYPICFEATURE$ and testicular phenotypes, we hypothesized that mutations in TBC1D20 may contribute to @DISEASE$ (WARBM); WARBM constitutes a spectrum of disorders characterized by eye, brain, and endocrine abnormalities caused by mutations in RAB3GAP1, RAB3GAP2, and RAB18.	has_symptom
+b65ce3091f0873d0a2d8738721b6470f1d1d3791	We report on a 7-month-old boy with @DISEASE$ who was referred for assessment of mental-motor retardation and reduced vision with @PHENOTYPICFEATURE$.	has_symptom
+d30eb6a17c37f9d9d4e343154038d60e51afd05e	Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+94fc34c6e8bbbbe0af3a916a57a1436d5986f7aa	Histoplasma @PHENOTYPICFEATURE$ with common variable @DISEASE$.	has_symptom
+29543ee23eef51f91eee214b1b328cb249fd961d	Alpha @PHENOTYPICFEATURE$ evolving into spindle coma in a case of acute @DISEASE$: What does it signify?	has_symptom
+0b89b0ebf055c7aaa94d913a04c9375b5be7149c	A total of 25 patients with @DISEASE$ were retrospectively analyzed according to age, etiology, time to transplantation, @PHENOTYPICFEATURE$ scores, complications and mortality.	has_symptom
+dacf083733b8b54bb7d3657589eeda9664e556ad	Despite deep @PHENOTYPICFEATURE$, markedly suppressed EEG and brain edema, aggressive control of ICP may lead to good recovery in @DISEASE$.	has_symptom
+ce566350ad223ff84ccf3633119309d0d5a0b673	In the course of further work antithrombin III replacement therapy was given to 13 patients with @DISEASE$ at an early stage, before they could lapse into deep @PHENOTYPICFEATURE$.	has_symptom
+110800e453fd855b9d9e4642aa830024ae27ea61	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure, that the occurrence of seizures may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of hepatic encephalopathy due to galactosamine-induced @DISEASE$ and postictal @PHENOTYPICFEATURE$ may share similar neural mechanisms.	has_symptom
+48458ff1e44035becc3190e4fe69a1bce4c713a7	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced @DISEASE$, that the occurrence of seizures may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure and postictal @PHENOTYPICFEATURE$ may share similar neural mechanisms.	has_symptom
+211f5af2ece5f826a47bc333fa8efdf5a0d2ccf7	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced @DISEASE$, that the occurrence of @PHENOTYPICFEATURE$ may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure and postictal coma may share similar neural mechanisms.	false
+22ff3449653ab84323ee2734809caaa3b71b935e	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure, that the occurrence of @PHENOTYPICFEATURE$ may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of hepatic encephalopathy due to galactosamine-induced @DISEASE$ and postictal coma may share similar neural mechanisms.	false
+5ce2d44322cac78ce97df2d9a2d9dde6b81c9127	They indicate that acute hyperammonemia is not a satisfactory model of @DISEASE$ due to galactosamine-induced fulminant hepatic failure, that the occurrence of @PHENOTYPICFEATURE$ may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure and postictal coma may share similar neural mechanisms.	false
+620ec28c09a70b4589d10bf048c948ec6dcdf4d0	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure, that the occurrence of @PHENOTYPICFEATURE$ may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of @DISEASE$ due to galactosamine-induced fulminant hepatic failure and postictal coma may share similar neural mechanisms.	false
+709d5b0a6d945ace37637cb5016990160b7e84ac	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure, that the occurrence of @PHENOTYPICFEATURE$ may lead to incorrect interpretation of experimental data from models of hepatic encephalopathy, and that the syndromes of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure and postictal @DISEASE$ may share similar neural mechanisms.	false
+4fac2c2ee31bfb770cec35c933d4f41e5a8a9eac	They indicate that acute hyperammonemia is not a satisfactory model of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure, that the occurrence of @PHENOTYPICFEATURE$ may lead to incorrect interpretation of experimental data from models of @DISEASE$, and that the syndromes of hepatic encephalopathy due to galactosamine-induced fulminant hepatic failure and postictal coma may share similar neural mechanisms.	false
+e18c3d05d66b8787a6464354520e485e2f3e38a1	Periaqueductal gliosis causing @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+cabddb80772993c7839f964c8c5cc5ddfab25235	Brain gliomas, @PHENOTYPICFEATURE$ and idiopathic aqueduct stenosis in children with @DISEASE$.	has_symptom
+91b02271ef0791303f2b60cb5f5d2dcbb240ba69	Fetal @PHENOTYPICFEATURE$ associated with maternal @DISEASE$.	has_symptom
+b985ee0b1ca3f1decc80cc0597d0426e5fb136c0	@DISEASE$ type I (NF1) will be associated with @PHENOTYPICFEATURE$ in ?13% of cases.	has_symptom
+e0fbd89702b5f9ae6ca9e928c40b5ade9e8324c5	Two brothers and an unrelated male with @DISEASE$ (NF) developed @PHENOTYPICFEATURE$ in childhood.	has_symptom
+5c5f8f6cf230c1e57c6754eef5e913960703f9c7	Endoscopic third ventriculostomy in a case of obstructive @PHENOTYPICFEATURE$ with @DISEASE$ (NF-1) was reported.	has_symptom
+d0e14aa067925da4d41e5cd5c6c8f55c93775136	Brief clinical report: aqueductal stenosis leading to @PHENOTYPICFEATURE$--an unusual manifestation of @DISEASE$.	has_symptom
+d9145c3bdeeaf3777481469f3c93d1ffe780a94c	Fatal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+af455acb1fd88b7c6a5712192e786c695ad5f8ff	The literature on nontumoral @PHENOTYPICFEATURE$ and aqueductal stenosis in @DISEASE$ is reviewed.	has_symptom
+284ecf201ba7b9e33ba94d671b6b8b5475182722	[Endoscopic third ventriculostomy in a case of obstructive @PHENOTYPICFEATURE$ with @DISEASE$ (NF-1)].	has_symptom
+12011809241bd0992dd12fc3f45fe54274ae0451	Additional symptoms of the @DISEASE$ that warrant therapeutic and diagnostic considerations include @PHENOTYPICFEATURE$, neuromuscular symptoms leading to weakness and atrophy, and cardiopathy mainly manifesting with atrial fibrillation, malignant arrhythmias and dilated cardiomyopathy.	has_symptom
+762b27fe05e5b091e900f1a2d54ffda46caa4287	The most common presentations were urticaria-like plaques (67.9%), @PHENOTYPICFEATURE$-like lesions (11.3%), and @DISEASE$-like lesions (9.4%).	has_symptom
+650c59d8a4f5671917923c7d1042e22e9c130427	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, @PHENOTYPICFEATURE$, micrognathia, flattened nose, malformed ears, and gaping mouth.	has_symptom
+c2b0a80900cb8d1f078a9145ba75c9674229fdca	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, @DISEASE$, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+98675b8d2de97afa4a8be930570f69d36112e90c	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+7623f79d5545e6f9c8a16ff7135b1107fa9dfba8	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, @PHENOTYPICFEATURE$, flattened nose, malformed ears, and gaping mouth.	false
+eb627680472718e081e1b101673e9e4d9779a7ed	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including @PHENOTYPICFEATURE$, marked intrauterine growth restriction, limb deformities, @DISEASE$ and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+9b4f00156cd3d5f9916da12c7917650be5717cb6	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including @PHENOTYPICFEATURE$, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+72e60f6b962c9fac557a653ce7baa6cbc909d0fd	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including @PHENOTYPICFEATURE$, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, @DISEASE$, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+39dda6197ca60052ab81a3e8b42c793efb013894	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, @DISEASE$ and abnormal facial features, consisting of severe proptosis with ectropion, hypertelorism, @PHENOTYPICFEATURE$, flattened nose, malformed ears, and gaping mouth.	false
+407b3f38afbf939315dad4f0f8fbbce726d20632	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, @DISEASE$ and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+ec34d89120adcb19985a2f17923b32a9f8fdbe55	Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and abnormal facial features, consisting of severe proptosis with ectropion, @DISEASE$, @PHENOTYPICFEATURE$, flattened nose, malformed ears, and gaping mouth.	false
+7ea878c23da0861f4c4ecb957be0206f0935a4ab	Letter: @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2e39b643c6aa3cfdc4405595fd5a0adecd01644e	Two patients with @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+3dc6469ea8f8feb5fa3ab7f562f7126d7376bfd3	@DISEASE$ with deafness, or Alport's syndrome, is a familial disorder characterized by progressive renal insufficiency, @PHENOTYPICFEATURE$ and ocular abnormalities.	has_symptom
+f8b3a32dafc4e195ec1667bb2ca8d7d008f9819c	Hereditary nephritis with deafness, or @DISEASE$, is a familial disorder characterized by progressive renal insufficiency, @PHENOTYPICFEATURE$ and ocular abnormalities.	has_symptom
+cd05b703f9c36707c97741062be0abe079ee6ccb	Hereditary nephritis with @PHENOTYPICFEATURE$, or Alport's syndrome, is a familial disorder characterized by progressive renal insufficiency, @DISEASE$ and ocular abnormalities.	false
+48a0fc2f73c7c130fe759fff81f9b3454d30dbb5	Hereditary nephritis with @PHENOTYPICFEATURE$, or @DISEASE$, is a familial disorder characterized by progressive renal insufficiency, sensorineural hearing loss and ocular abnormalities.	false
+06872c4a4379e8d197cc2953087d5db22815587c	Hereditary nephritis with @PHENOTYPICFEATURE$, or Alport's syndrome, is a familial disorder characterized by progressive @DISEASE$, sensorineural hearing loss and ocular abnormalities.	false
+b48d882497714b6e9e08b76c290faf236fc4afd4	@DISEASE$ with @PHENOTYPICFEATURE$, or Alport's syndrome, is a familial disorder characterized by progressive renal insufficiency, sensorineural hearing loss and ocular abnormalities.	false
+a3b7204e86179864f48595fa8a559d4037343142	Alport syndrome refers to the clinical triad of @DISEASE$, @PHENOTYPICFEATURE$, and ocular abnormalities.	has_symptom
+8baf456bab50859f4fac0e55be684c33ae569feb	@DISEASE$ refers to the clinical triad of hereditary nephritis, @PHENOTYPICFEATURE$, and ocular abnormalities.	has_symptom
+98d5f91e70b521dd66411c4a4201b19357976293	A nationwide search for patients with @DISEASE$ (AS), a hereditary nephritis with @PHENOTYPICFEATURE$ and occasional ocular anomalies, was performed.	has_symptom
+139030b5a590ff6cfb104134c423a68fb47f123d	A nationwide search for patients with Alport syndrome (AS), a @DISEASE$ with @PHENOTYPICFEATURE$ and occasional ocular anomalies, was performed.	has_symptom
+2b7d4304cbc2ba1a93461e77e4646a5fcd1589c4	@DISEASE$ (AS) is a progressive hereditary nephritis presented with hematuria and renal failure, frequently associated with @PHENOTYPICFEATURE$ and ocular lesions.	has_symptom
+044eaf3c2cf6c355cb5126acb9f5951ef5c37d5e	Alport syndrome (AS) is a progressive @DISEASE$ presented with hematuria and renal failure, frequently associated with @PHENOTYPICFEATURE$ and ocular lesions.	has_symptom
+a5daa0b40b58083c2e7f70ade2624bd498d11954	Alport syndrome (AS) is a progressive @DISEASE$ presented with hematuria and @PHENOTYPICFEATURE$, frequently associated with sensorineural deafness and ocular lesions.	false
+d79104256819bcff896e03fbee9e929c5c306e8e	@DISEASE$ (AS) is a progressive hereditary nephritis presented with hematuria and @PHENOTYPICFEATURE$, frequently associated with sensorineural deafness and ocular lesions.	false
+4232e1925aa3113cd3cf68434309cc770d15835d	Alport syndrome (AS) is a progressive hereditary nephritis presented with hematuria and @PHENOTYPICFEATURE$, frequently associated with @DISEASE$ and ocular lesions.	false
+c4b35b966b80dfecea3433826b8a1a942974e8ab	@DISEASE$ is a hereditary nephropathy, inconstantly associated with @PHENOTYPICFEATURE$ and ocular abnormalities.	has_symptom
+a0217bb440f62e5702b620948d55d683de84929f	41 families with classic Alport's syndrome (@DISEASE$ with @PHENOTYPICFEATURE$) were studied.	has_symptom
+ef8bb034733d8e94c3b034582231c559bd2810e5	41 families with classic @DISEASE$ (hereditary nephritis with @PHENOTYPICFEATURE$) were studied.	has_symptom
+4560d4e83ac473e635e2f724c9e393883c4bcbe2	@DISEASE$ is a rare progressive hematuric nephropathy associated with @PHENOTYPICFEATURE$.	has_symptom
+5000d8cfa86c83781a1f81177379ae48bbac9cdc	Familial @PHENOTYPICFEATURE$ (SNHL) has been included in the definition of @DISEASE$.	has_symptom
+1cbcd038fc6d6c229f9eb968af5d25a4193d23e0	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause @DISEASE$, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	has_symptom
+31d6a99944178b5e89b9d3750eeeef505ed2b3bd	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and @DISEASE$, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+7552aecbb250eeabb65d116e7f5bf7055c376406	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause @DISEASE$, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+f55849bb08fef93ed91de3d469d1186f3ab2130e	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+46724076fc47bc068b33dd488c9c4f11e3497b05	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, @DISEASE$, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+48538aa0356fb3849d0d5710f5a4bc9f6dde7f6c	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and @DISEASE$, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+3eeecf3e0a02d67c4e8ebbe173263c88dcee4ed7	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause @DISEASE$, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+28d07d62548f715eb57c2165237d12d57235674c	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; @DISEASE$ (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+5c4c62f96b280081c913842214e5a906085d2aab	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, @DISEASE$, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+d3276eb57b25ad002ceee0dfe55b4da8b07c2465	General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause 'fetal disease' than defects of the respiratory chain; (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically @DISEASE$, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the GRACILE syndrome (@PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the 'new frontier' in mitochondrial translational research.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+4fd9296e7eb3324dad95fe35265b9a460295e1f0	This form of @DISEASE$ was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, @PHENOTYPICFEATURE$ and Dandy-Walker malformation.	has_symptom
+d35ec7f2c95da6500d54c6074eb0936a758465fe	A characteristic malformation complex consisting of @DISEASE$, optic nerve dysplasia, and @PHENOTYPICFEATURE$ was associated in two cases; the other patient had an extremely rare combination of septooptic dysplasia.	has_symptom
+4f9ec05c0a2080a544e97afaa503288b49ae626c	Of unknown genesis are two subsets of @DISEASE$ patients: 1) the combination of @PHENOTYPICFEATURE$, tibial hypoplasia, and hallucal duplication and 2) ophthalmofrontonasal dysplasia or oculoauriculofrontonasal dysplasia with associated ear tags and epibulbar dermoids.	has_symptom
+9813c21cd1bf8f6b815f36cb2523232b78088b2c	We describe a boy with @DISEASE$"; cerebral anomalies, including @PHENOTYPICFEATURE$ and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet.	has_symptom
+8332aeabd2f58b986f6a41644c16f814536917fc	We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including @DISEASE$ and probable Dandy-Walker malformation (absent superior vermis, @PHENOTYPICFEATURE$ and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet.	false
+e1a77146740d4e2cbfd06b0a7258f647793ea661	We describe a boy with @DISEASE$"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, @PHENOTYPICFEATURE$ and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet.	false
+318826aaa682d83a1d21fc93d25cc9a7528bc41b	We describe a boy with @DISEASE$"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with @PHENOTYPICFEATURE$; cryptorchidism; and polydactyly of hands and feet.	false
+ef696af65d89a7b6f1b7144a8f1288f9f1a030df	We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including @DISEASE$ and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with @PHENOTYPICFEATURE$; cryptorchidism; and polydactyly of hands and feet.	false
+213ea799f52dc28e7fcdf94b53e36effd9ca850d	Bitemporal hemianopsia in @DISEASE$, @PHENOTYPICFEATURE$, basal meningocele and eye abnormalities.	has_symptom
+aa64aace80a167d0c22db95c97aa2ea141199d03	Bitemporal hemianopsia in frontonasal dysplasia, @DISEASE$, basal @PHENOTYPICFEATURE$ and eye abnormalities.	false
+8db7750540fcef028027b539aabb523412a3437f	Bitemporal hemianopsia in @DISEASE$, callosal agenesis, basal @PHENOTYPICFEATURE$ and eye abnormalities.	false
+f95715066b586c83f9e83b5b9fe55a360e6c6b94	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including @DISEASE$, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	has_symptom
+8deb29af99d8cd8efe125b80c512588033168ca4	Acromelic frontonasal dysostosis (@DISEASE$) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+c3fd8b44d8f6c32b78a8c0832b21380c17059973	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including @DISEASE$, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+0ae660e25ee595c0570cfa5d6b368a2a0e1b5d7e	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @DISEASE$, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+dfc6cb7b664a0bfbd6ab40f4a1ee8c43065b1c05	@DISEASE$ (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+34363e16d158e0262775be1c71ce76f0d37af862	@DISEASE$ in association with hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly and choanal atresia.	has_symptom
+d46676c27fa5cb8beabf495da707fc03360f5cd6	Median cleft face syndrome in association with @PHENOTYPICFEATURE$, @DISEASE$, holoprosencephaly and choanal atresia.	false
+d3f24e9a70a067678690b9564000b36fb67a0373	@DISEASE$ in association with @PHENOTYPICFEATURE$, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.	false
+94580e5cd0d3487c3eeb7cdf745d4573365072d3	We describe a girl with a phenotype characterized by @DISEASE$, @PHENOTYPICFEATURE$, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype.	has_symptom
+0c179fbc5177408b158f14935e4674111eee18dd	A premature female infant had the characteristic features of the @DISEASE$ in association with holoprosencephaly, @PHENOTYPICFEATURE$, hydrocephalus and choanal atresia.	has_symptom
+738acb678197e0ed3dd6862837a334bcb918a620	A premature female infant had the characteristic features of the @DISEASE$ in association with holoprosencephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$ and choanal atresia.	false
+b9d6436748a371065c2ea2e65ba90a9b384acac7	A premature female infant had the characteristic features of the median cleft face syndrome in association with holoprosencephaly, @DISEASE$, @PHENOTYPICFEATURE$ and choanal atresia.	false
+58fd9363bd9b55b000479e6b433560f5ca5e78ea	@DISEASE$, @PHENOTYPICFEATURE$, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3	has_symptom
+277dc0275f21c9539bdcecde93823bbb13e2e0ce	However, BNZ has exhibited insufficient activity in the chronic phase of @DISEASE$, required administration in large doses, prolonged treatment, and shown a high incidence of adverse reactions (vomiting, rash, @PHENOTYPICFEATURE$, and spinal cord depression), toxicity, and low solubility in water.	has_symptom
+97e565203e159bebf982e9fd7c043b1748c22954	This may be an important factor in the pathogenesis of the cardiac symptoms and @PHENOTYPICFEATURE$ seen in @DISEASE$, which is the most important cause of myocarditis in Central and South America and the second most important cause of heart failure in several of the countries located in these subregions.	has_symptom
+9fabf11a7f714434bc015461178bb8cbbbf135d3	This may be an important factor in the pathogenesis of the cardiac symptoms and @DISEASE$ seen in Chagas' disease, which is the most important cause of myocarditis in Central and South America and the second most important cause of @PHENOTYPICFEATURE$ in several of the countries located in these subregions.	false
+25c163753092b1c931eac9245b3eb0a2052ed9fc	This may be an important factor in the pathogenesis of the cardiac symptoms and peripheral neuropathy seen in @DISEASE$, which is the most important cause of myocarditis in Central and South America and the second most important cause of @PHENOTYPICFEATURE$ in several of the countries located in these subregions.	false
+6670af8d287c2d2460e78135742b3a3e27e3a2e6	This may be an important factor in the pathogenesis of the cardiac symptoms and peripheral neuropathy seen in Chagas' disease, which is the most important cause of @DISEASE$ in Central and South America and the second most important cause of @PHENOTYPICFEATURE$ in several of the countries located in these subregions.	false
+d2e00de18c4238286f85e06e8493489916d1578e	Since the peripheral nervous system is very rich in gangliosides, it is possible that the increases in GA1- and GM1-specific antibodies that develop during chronic T. cruzi infection are involved in the pathology of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+1de70fcd01c8a1f85cabc08bff25f3feaeb74594	@PHENOTYPICFEATURE$ are frequently associated with @DISEASE$.	has_symptom
+950f5e65ded7b472853173da1c0aef8dd90619c3	@PHENOTYPICFEATURE$ is the most consistent finding and occur in almost 80?% of all @DISEASE$ (WS).	has_symptom
+a7ece10711c8456fdbb7015d92767727ef1d6488	@PHENOTYPICFEATURE$ occur in 80% of patients with @DISEASE$, the majority of which are arterial stenoses.	has_symptom
+ffd3483831026c9737e87b8acbda7e9f38e7a3de	@PHENOTYPICFEATURE$ in @DISEASE$: 20 years'experience in Istanbul.	has_symptom
+b978ca8148aa4a0f3afca2465d3a9d94915d50f5	@PHENOTYPICFEATURE$, interventions, and long-term outcomes in infantile @DISEASE$.	has_symptom
+52811325721c60aaa4df15f42df33e20cba94f34	@PHENOTYPICFEATURE$ are present in approximately 80% of @DISEASE$ patients.	has_symptom
+7329ea35fd735e3b164b4a16bcbf440c2d1f9425	@PHENOTYPICFEATURE$ are a major determining factor in the clinical picture and trajectory of patients with @DISEASE$.	has_symptom
+60d8c2475151b2b7db416b793ece746653ed2110	@PHENOTYPICFEATURE$, because of elastin deficiency, are the leading cause of morbidity and mortality in patients with @DISEASE$.	has_symptom
+56383f2e37365d9d288a377631e08e070b47ff5d	Long-term outcomes of patients with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+413a2221a0e6139de44e065ee9cd58a0867351be	@DISEASE$ is a genetic disorder associated with various @PHENOTYPICFEATURE$, most commonly supravalvar aortic stenosis and peripheral pulmonary stenosis.	has_symptom
+252e6a9d047b5c42c71d850476f39407223abb90	WES identified a novel de novo @PHENOTYPICFEATURE$ (p.Gly268Arg) in ACTB (@DISEASE$), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).	has_symptom
+06d78035c7fe79cba1e2070d72760b89c37330b7	WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (@DISEASE$), a homozygous stop mutation (p.R2442*) in ASPM (primary @PHENOTYPICFEATURE$ type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).	false
+4735083eac4ff83cf81c66955099e700837e7cc2	WES identified a novel de novo @DISEASE$ (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary @PHENOTYPICFEATURE$ type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).	false
+0f6c51cc8f78c330df6fccdf18caf4c4d1ea9178	WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary @PHENOTYPICFEATURE$ type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked @DISEASE$ mentaly retardation, Christianson type).	false
+09459dd4f1502f604f1bb1046d73c74861aeff61	We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/@PHENOTYPICFEATURE$, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of @DISEASE$.	has_symptom
+74de790c660080b3cb6c54d87514f02f35800c65	We describe a 3-year-old boy with complete @PHENOTYPICFEATURE$, developmental delay/@DISEASE$, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome.	false
+23f012d7ed48e32c2a5591c6a6a91b1e3e8d2c3f	We describe a 3-year-old boy with complete @PHENOTYPICFEATURE$, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of @DISEASE$.	false
+d2f340b10a8364ab1f410f9f6c103c463bc5a583	We describe a 3-year-old boy with complete @PHENOTYPICFEATURE$, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe @DISEASE$, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome.	false
+2adc36d46cb6fe2319890b4bce0fbbc3cf67fa85	@DISEASE$ (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, @PHENOTYPICFEATURE$, agenesis of the corpus callosum (ACC), congenital diaphragmatic hernia (CDH), and omphalocele.	has_symptom
+a38a224ded22c7befac641e1f2921a13c87c3531	Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$ (ACC), congenital diaphragmatic hernia (CDH), and omphalocele.	false
+3584180dda6c6d345ca24cc56b470bdd564d67ae	@DISEASE$ (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, @PHENOTYPICFEATURE$ (ACC), congenital diaphragmatic hernia (CDH), and omphalocele.	false
+8cd05b9015413618f16c810d3b2bbb6938ac8819	Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, @DISEASE$, @PHENOTYPICFEATURE$ (ACC), congenital diaphragmatic hernia (CDH), and omphalocele.	false
+53f76f190976922f7c71cbd8efe6235db4c6154a	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) micrognathia, @PHENOTYPICFEATURE$ and glossoptosis, as @DISEASE$ (four patients) and Moebius syndrome (three patients).	has_symptom
+8eba65f541771ac434b0917665969e0ac396eb20	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) @PHENOTYPICFEATURE$, cleft palate and glossoptosis, as @DISEASE$ (four patients) and Moebius syndrome (three patients).	false
+0ca772cdaa80a32024ee470fed018b40e2d83a5b	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) @PHENOTYPICFEATURE$, cleft palate and glossoptosis, as Hanhart syndrome (four patients) and Moebius @DISEASE$ (three patients).	false
+aaaba3094b529b60542f21773cd170078169d65b	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) @PHENOTYPICFEATURE$, @DISEASE$ and glossoptosis, as Hanhart syndrome (four patients) and Moebius syndrome (three patients).	false
+7aa39f22259d8d1163e77385478c506d34479bff	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	has_symptom
+d8c2e17c334ae671caa7092fb9e5a741082ce7b4	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	has_symptom
+13a8bc3cdf23f63dee297d91595f2c7f87fb7a39	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+a52b56a484526ce90ac967e9f5110e4140e9f569	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+e7c253af8451b5defd8104929dcf01138e307b97	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+3cc73fc40f7645c1c2c46f3b7f4704f90822f025	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+9b95089f8fc1448fde17687971e719f43b0383e3	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @DISEASE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+08c5b59a8dcd58cc2d10e21f5942a843f8bc7f5a	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+3207aec90a52a3e7c1ec48c0dd6f36f121526c96	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+1e42655e51d701e5798f4b82572bf591f41ddb5f	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+f5fac16694fbd159bd1b4885859b3480b507d236	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+249cb607dd7908bea0a5f4a3c5c49aa234ef4bef	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, @DISEASE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+d068f52d0c32cd9ad197ebb03d90bc4afcc37f87	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, @PHENOTYPICFEATURE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	has_symptom
+9a455ff575eb606155541ff3b460a81a116f1a9b	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and @PHENOTYPICFEATURE$, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+1a80ba76fb1e7aaed61bd619ba44dd266153b8b5	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+ec41e262d2c79c6049aaaa3b5e9ccfdf1ec44508	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and @PHENOTYPICFEATURE$, choreoathetosis, @DISEASE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+817a85dea5c50b52f00acbf0d86831398d049660	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+89f9f6bfd5173f5e78d171952f9e79a03f0209ca	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+8eea92b61f868fe09f73562be23383f3b6c40064	Key manifestations include severe mental retardation, early hypotonia with progression to @PHENOTYPICFEATURE$ and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+74590b5408b5716fb12941ff9de1ad4897764429	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, @DISEASE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+e88f6326aae9c60f208ef28b09887153b907c980	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and @PHENOTYPICFEATURE$, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+707c87f86ecc25a02336363a1bc5687109e47f28	Key manifestations include severe mental retardation, early hypotonia with progression to @PHENOTYPICFEATURE$ and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with @DISEASE$ similar to Hallervorden-Spatz disease.	false
+2466211dc1fcc75b678ba501b1cf87a95ff1898a	Key manifestations include severe mental retardation, early hypotonia with progression to @PHENOTYPICFEATURE$ and contractures, choreoathetosis, @DISEASE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+0e0729d1cbf0af100f813d78c42fa33178df6b19	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to spasticity and contractures, choreoathetosis, @DISEASE$, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease.	false
+71aca267bb13adad3445d3db718d33b5183a01e9	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+040472e339d1ce721ddb616d4b1521e53b9a83d2	The latter can have implications for the treatment of Parkinson's disease and other neurodegenerative diseases (Alzheimer's disease, Friedreich @PHENOTYPICFEATURE$, aceruloplasminemia, @DISEASE$) where abnormal iron accumulation in the brain is thought to be associated with the degenerative processes.	has_symptom
+cb5f5185dbaf1fbd547c0ddc62486b386e0684b7	These include motor disorders such as dystonia, amyotrophic lateral sclerosis, status dystonicus, @DISEASE$, Freidreich's @PHENOTYPICFEATURE$, "stiff-man" syndrome, but also vegetative states after revere brain trauma, anoxic encephalopathy or other pathology and more recently, various chronic pain syndromes.	has_symptom
+903427247c0b79e9ebdf50c39d367831badefff7	It may also provide insights into the mechanisms of AD pathophysiology, and prove useful in treating other iron-associated neurodegenerative diseases such as Friedreich's @PHENOTYPICFEATURE$, Parkinson's disease, Huntington's disease and @DISEASE$.	has_symptom
+72244b350b5dc37341ba8f75dd707e864a19fb02	@DISEASE$ (HSS) is a neurodegenerative disorder characterized by progressive dementia, dystonia, @PHENOTYPICFEATURE$, and rigidity.	has_symptom
+ccc3fa7fab1444e45119a63169db3c07a2a45a56	Neurodegeneration with brain iron accumulation, type 1 (NBIA 1), or @DISEASE$, is a rare neurodegenerative disorder characterized clinically by Parkinsonism, cognitive impairment, pseudobulbar features, as well as @PHENOTYPICFEATURE$, and neuropathologically by neuronal loss, gliosis, and iron deposition in the globus pallidus, red nucleus, and substantia nigra.	has_symptom
+bb3ba3a8d94c56d004cbf7b622997986c6c4c1b9	Neurodegeneration with brain iron accumulation, type 1 (NBIA 1), or @DISEASE$, is a rare neurodegenerative disorder characterized clinically by Parkinsonism, @PHENOTYPICFEATURE$, pseudobulbar features, as well as cerebellar ataxia, and neuropathologically by neuronal loss, gliosis, and iron deposition in the globus pallidus, red nucleus, and substantia nigra.	false
+fb0d79fb93ab2b25bd0f97a731b02f79575c8f70	Neurodegeneration with brain iron accumulation, type 1 (NBIA 1), or Hallervorden-Spatz syndrome, is a rare neurodegenerative disorder characterized clinically by Parkinsonism, @PHENOTYPICFEATURE$, pseudobulbar features, as well as @DISEASE$, and neuropathologically by neuronal loss, gliosis, and iron deposition in the globus pallidus, red nucleus, and substantia nigra.	false
+ff63f88fafa1bff8ae0ef9a1a441f07ee040de12	Many forms of neurodegenerative disease, for instance Alzheimer's disease, Parkinson's disease, Friedreich's @PHENOTYPICFEATURE$, @DISEASE$ and macular degeneration, are associated with elevated levels of redox active metals in the brain and eye.	has_symptom
+f0feed6de385652c7f9e9c78aa7cfdb6a9ea47ed	The list includes Parkinson's disease, Friedreich's @PHENOTYPICFEATURE$, @DISEASE$, Huntington disease and Alzheimer's disease.	has_symptom
+107eff13fab83470a49562274190413c8f1c1d80	Hereditary diseases such as aceruloplasminemia, Friedreich's @PHENOTYPICFEATURE$, @DISEASE$, and posterior column ataxia with retinitis pigmentosa involve retinal degeneration associated with iron dysregulation.	has_symptom
+83a86e581784c127817d3a16048c64a63e41258f	From our series of patients one patient with @DISEASE$ and a progressive severe dystonic syndrome, @PHENOTYPICFEATURE$, retinitis pigmentosa and eventual anarthria had a novel combination of two compound heterozygote mutations identified in the PANK2 gene, G-->A transition at base 1238 (G411R) and a C-->A transition at base 1184 (A395E).	has_symptom
+aba223d3f66456bfee42bd04f9b1aee49a0c0261	Other genetic diseases are due to localized iron overload: Friedreich's @PHENOTYPICFEATURE$ results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; @DISEASE$ is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene.	has_symptom
+c019ffb4842599fe847b59d4bf3dbb0bce2c6504	Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--@PHENOTYPICFEATURE$ @DISEASE$ due to a mutation within the L-ferritin gene.	false
+a0ec2fef1ff1bb9e636ef2042093d60edc0812b9	Other genetic diseases are due to localized iron overload: Friedreich's @DISEASE$ results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--@PHENOTYPICFEATURE$ syndrome due to a mutation within the L-ferritin gene.	false
+a61323b33166e670ad0c81efc45332003ef05216	Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; @DISEASE$ is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--@PHENOTYPICFEATURE$ syndrome due to a mutation within the L-ferritin gene.	false
+55f5ef62d4b11b81e2c200bfe8aafd0b3fd0f745	@PHENOTYPICFEATURE$ occurred in 46 patients (76.7%), most commonly in patients with progressive iris atrophy or @DISEASE$.	has_symptom
+9d0e81afec5e732d5ae83d0185be01c95d2e5ad6	Mucopolysaccharidosis type VII or @DISEASE$ is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, @PHENOTYPICFEATURE$, mental retardation, and hydrops fetalis in affected individuals.	has_symptom
+973d9aba1258d4b6af303e484766ed749e01a66b	@DISEASE$ or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, @PHENOTYPICFEATURE$, mental retardation, and hydrops fetalis in affected individuals.	has_symptom
+9193f9ecca6a081bf824a0bd3c87a9ccdcfe6dff	@DISEASE$ or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, corneal opacities, @PHENOTYPICFEATURE$, and hydrops fetalis in affected individuals.	false
+7481c3f73e650539acf4e80a9967aaa2733702f0	Mucopolysaccharidosis type VII or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, @DISEASE$, corneal opacities, @PHENOTYPICFEATURE$, and hydrops fetalis in affected individuals.	false
+24ab8152670e6df3632566ebe818a362ad94598f	Mucopolysaccharidosis type VII or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, @DISEASE$, @PHENOTYPICFEATURE$, and hydrops fetalis in affected individuals.	false
+2ae878e266204befcc100c607c9088d240f0796f	Mucopolysaccharidosis type VII or @DISEASE$ is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, corneal opacities, @PHENOTYPICFEATURE$, and hydrops fetalis in affected individuals.	false
+7ce8b1fdb3d3d6486a37c08c0764eb402c6faf71	@DISEASE$ is a rare autosomal recessive condition of zinc deficiency characterised by chronic diarrhoea associated with @PHENOTYPICFEATURE$, periorificial dermatitis and alopecia, susceptibility to infections and behavioural changes.	has_symptom
+6e332849273063b0bdd83334d5fd52ecfc2aa3c9	@DISEASE$-like eruption and @PHENOTYPICFEATURE$ as presenting signs of cystic fibrosis.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c4409bb7fdde598e9fa06e2ef35f76647b90b689	@DISEASE$ (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including @PHENOTYPICFEATURE$ and macrocephaly.	has_symptom
+8fa316962fdfedb81312c6557ab631f842ebb193	@DISEASE$ (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and @PHENOTYPICFEATURE$.	false
+8c8e134c90d12daf73f66bd227c33d375ce8f843	Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f274833eddea1a02e10359bd449d3a58dbf07c11	Greig cephalopolysyndactyly (@DISEASE$) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, macrocephaly and @PHENOTYPICFEATURE$.	has_symptom
+ce98cc717cef17ad7672b6beb01578d7a756c436	Greig cephalopolysyndactyly (GCPS) @DISEASE$ is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, @PHENOTYPICFEATURE$ and hypertelorism.	false
+dbd20148747e90537584baebdc1bf3b26d7bec34	Greig cephalopolysyndactyly (GCPS) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fa770184beb31ed9dfe8a9710235abbd4f2db5ca	Greig cephalopolysyndactyly (@DISEASE$) syndrome is an autosomal dominant disorder with high penetrance in majority of cases, characterized by a triad of polysyndactyly, @PHENOTYPICFEATURE$ and hypertelorism.	false
+0a7b05877c271c46c63c88996dbf0c776346fe58	@PHENOTYPICFEATURE$ (@DISEASE$) associated with Sprengel's deformity.	has_symptom
+44dfcc48d2b286d927f2c549c9d9ae7b40c2e288	@DISEASE$ is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and @PHENOTYPICFEATURE$.	has_symptom
+c33b6e9af6090948d28db9cd4bc2d6ba652abf66	Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e084015ddcb32316dcabbce41366292d20f1a4b7	Greig cephalopolysyndactyly syndrome is a rare multiple @DISEASE$ syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), @PHENOTYPICFEATURE$, and ocular hypertelorism.	false
+21b5899170c25566396cbba8b6840c78974047b8	@DISEASE$ is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), @PHENOTYPICFEATURE$, and ocular hypertelorism.	false
+46ddcdbb85f70ff4f9ca27b6cbcd47cd14c795bd	Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly @DISEASE$ characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), @PHENOTYPICFEATURE$, and ocular hypertelorism.	false
+a6b79a0f78db0a5acd5a8220c81c870662cd301e	We report on a six years old boy with several features of @DISEASE$ (GCPS) including craniofacial dysmorphism, @PHENOTYPICFEATURE$, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.	has_symptom
+0db4c9826c3c4be8b45d29f2a63d10fc80340fdb	We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.	false
+df702ca10ec337d1cd3db15d35eaec463171dafb	We report on a six years old boy with several features of @DISEASE$ (GCPS) including craniofacial dysmorphism, hypertelorism, @PHENOTYPICFEATURE$, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay.	false
+f5123be5b6fa174826d817b75c60c0217b32d0ec	A case of patent ductus arteriosus coinciding with @PHENOTYPICFEATURE$ (@DISEASE$) is reported for the first time.	has_symptom
+89c08f6213f457f84e960e44cb7190a23e4ab8e6	@DISEASE$ is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and @PHENOTYPICFEATURE$.	has_symptom
+442416f4c9b0c32eb305334074ad0a0af2b4c3ec	Greig cephalopolysyndactyly syndrome is a rare @DISEASE$, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, @PHENOTYPICFEATURE$ and hypertelorism.	false
+26760c95a231e4480e522b79c7b988ae3549330c	Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+895dc82e37eea875dfe85937b6d6c646ee0f757f	@DISEASE$ is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, @PHENOTYPICFEATURE$ and hypertelorism.	false
+a8b36ecb0fa59ca70e3ad3cc80410a0b1d8e3563	Pelvic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+04cfe3643977eabb916da8b00bb89187f69e765b	@DISEASE$ patients frequently develop @PHENOTYPICFEATURE$ of various organs.	has_symptom
+1917cc888769cf3d812a853e4067307e51be00b6	Krukenberg @PHENOTYPICFEATURE$ as the initial presentation of @DISEASE$.	has_symptom
+1e301e46b78f1c952381c831be825a517a9c7635	Ovarian @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+54d4061f04ac620724feac609552134d755367f1	Reproductive tract @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+9b1ca23ea92a8871d46ee1180e201cc3771914b6	Much attention has been drawn to its association with the Peutz-Jeghers syndrome (PJS) with reported occurrence of the @PHENOTYPICFEATURE$ in the testis of a boy with @DISEASE$.	has_symptom
+24c8c66ac3372760bf19fd6e09afa530fb02d08d	Much attention has been drawn to its association with the @DISEASE$ (PJS) with reported occurrence of the @PHENOTYPICFEATURE$ in the testis of a boy with PJS.	has_symptom
+0c4e44868eb7dd8b5aa70df8d115bf43c2acef7f	Much attention has been drawn to its association with the Peutz-Jeghers syndrome (@DISEASE$) with reported occurrence of the @PHENOTYPICFEATURE$ in the testis of a boy with PJS.	has_symptom
+b9c93c09f58d14ca77c1a19145220438f29359df	[@DISEASE$ associated with multiple epithelial @PHENOTYPICFEATURE$].	has_symptom
+0a19837e3208a44c5d08a660cca803e9003bb6dd	@DISEASE$: an increased risk of @PHENOTYPICFEATURE$.	has_symptom
+be3f856c761677841d044ae017ce2c8d91755b2d	Female genital tract @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+e89501ff5b4178f7173e7f51a7548875d60467d6	LKB1, the @PHENOTYPICFEATURE$ suppressor, is found mutated in @DISEASE$ (PJS).	has_symptom
+020a7a487460ec3273ceda589e2348ee91600b77	LKB1, the @PHENOTYPICFEATURE$ suppressor, is found mutated in Peutz-Jeghers syndrome (@DISEASE$).	has_symptom
+d6af07b288a47e5e56637306584020e054e169bd	@DISEASE$ is a rare genetic disease that is characterized by osteosclerosis, @PHENOTYPICFEATURE$, and bone fragility.	has_symptom
+64c11f1081c8d255594caf5ec4df4320b56f1846	@DISEASE$ is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$.	has_symptom
+55696dca214524cd5c22103d35104d63e4c75e0f	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by short stature.	false
+b754794c94f9eb4ae163743e27fb670d98a9fd8f	Pycnodysostosis is a @PHENOTYPICFEATURE$ characterized by @DISEASE$.	false
+15e4ddf889c185b87054451b13fbf5c1d94c0f87	@DISEASE$ is typically associated with @PHENOTYPICFEATURE$, multiple fractures without adequate trauma and high bone density on x-ray.	has_symptom
+578ec5f41772cb7fd44981543d12f335b99072f0	@DISEASE$ is an uncommon human genetic disorder characterized by osteosclerosis of the skeleton, @PHENOTYPICFEATURE$, and bone fragility.	has_symptom
+ebb11b29cefe8917a7c3b5b91be05f616aef04c3	@DISEASE$ is characterized by post-natal onset of short-limbed @PHENOTYPICFEATURE$ and generalized hyperostosis.	has_symptom
+ffd4047e14cb64949870afbf9ee33b7227784a45	@DISEASE$ is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities.	has_symptom
+eee6e323a8b543767eb9ed82e7759d076fc7cb23	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities.	false
+42c51857008dfd7713f0c042fd190eed7fc794e4	Pycnodysostosis is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by @DISEASE$, osteosclerosis, acro-osteolysis, frequent fractures, and skull deformities.	false
+1793b8e126085de4ecb7459937e41818894b4c29	@DISEASE$ is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities.	has_symptom
+c0b6783ce9400248f1517ebdc6cf1513de138140	Pycnodysostosis is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by @DISEASE$, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities.	false
+fb5fb25165e82cb3f1fdbca9562d43bfce87e027	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities.	false
+72387e9d4bc07ad1ce665081ed1d9bdb542b522e	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, delayed closure of fontanels, persistence of open cranial sutures and bone fractures.	has_symptom
+08dd9cbacef8816722dfb279d90424ebadeebb95	@DISEASE$ is an uncommon autosomal recessive sclerosing bone disorder which is characterized by @PHENOTYPICFEATURE$ and generalized diffuse osteosclerosis.	has_symptom
+67fa7afa112f25484d56b872393874f0f16374a9	@DISEASE$ is an inborn skeletal syndrome manifested by @PHENOTYPICFEATURE$ with a concomitant spinal deformity and by dense sclerotic fragile bones.	has_symptom
+f24b74d7ef2011af2dfacc70d396a82273e55106	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	has_symptom
+738b91f8282d56832c6abd531d325eea8dd36975	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	false
+d05984e18043bc26b9ed2d8c41ae41212b6f80e6	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+0b7c3d32766e6121aa331645ea691886ac86af5e	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @DISEASE$, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+594ab71ea4de143901271924bd60c55865061a56	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @DISEASE$, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+b76700b015c48203fa9f57dcdac814c068b26d02	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @DISEASE$, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	false
+b423eff3f0493575c07738372387948739a099ec	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+50606e3e2ab2a5f47d0a2e9c08fe2106185086e9	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+a5f640cb7e3b1774e4ac9118005f973509a3f6c5	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	false
+8b7cb56bf548b54d372bfdfb01dab137055a8c57	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+19d6b1d5e8f4ba887a8e01a9a6a76688e019c62a	We also identified autoantibodies to COL17 and BP230 in patients with @DISEASE$ syndrome and found an association between production of autoantibodies to COL17 and an @PHENOTYPICFEATURE$ skin phenotype.	has_symptom
+e09988880d78903326a3e6fc91372f9dae518ea7	We present a male infant with classic clinical features of @DISEASE$ syndrome, which manifested by the end of the first month after birth, first with type 1 diabetes mellitus and chronic diarrhoea followed by dehydration and disordered development, and then with facial @PHENOTYPICFEATURE$ and laboratory signs of thyroiditis without thyroid dysfunction (antithyreoglobulin antibodies 1:5500, antimicrosomal antibodies 1:40).	has_symptom
+a2a0a4cc5098a227f8dc876f61ec5c7296ce3225	Adult polyglucosan body disease (@DISEASE$) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and @PHENOTYPICFEATURE$.	has_symptom
+7822ca9de774e988799b1dd18c61e54f9dde6c18	Adult polyglucosan body disease (@DISEASE$) is a rare neurological disorder of unknown cause characterized by four manifestations: upper motor neuron signs, @PHENOTYPICFEATURE$ with motor and sensory loss, urinary incontinence, and dementia.	has_symptom
+c0c6c499cf4f2a66075d22eebd1496c42ff967a2	@DISEASE$ syndrome is not to be confused with seasickness, which causes nausea, @PHENOTYPICFEATURE$, diaphoresis, and headache.	has_symptom
+dcde80604e47fb5fa6f80f3ab9b8d7b774067952	The @DISEASE$ is associated with marked @PHENOTYPICFEATURE$ and asthma.	has_symptom
+0d9d662baff4998dadedad0739f9a3535177155f	The Churg-Strauss syndrome is associated with marked @DISEASE$ and @PHENOTYPICFEATURE$.	false
+054629e0cabb6f961c5cdcfa73876e78af2517cb	The @DISEASE$ is associated with marked eosinophilia and @PHENOTYPICFEATURE$.	false
+94fcf9797cfc663c91da14c02d0f17eeadb56e40	@DISEASE$ is a systemic vasculitis characterized by asthma, tissue and blood @PHENOTYPICFEATURE$, and granulomatous vasculitis.	has_symptom
+8355372f8a898cb036b89989daf3fa910565d15c	@DISEASE$ (CSS) is a multisystem disorder characterised by asthma, prominent peripheral blood @PHENOTYPICFEATURE$, and vasculitis signs.	has_symptom
+87caf2196ce4bb4076722744ebf568cb85f3dc20	He was diagnosed with eosinophilic granulomatosis with polyangiitis (EPGA, formerly @DISEASE$) by chest radiographic findings, blood @PHENOTYPICFEATURE$, mononeuritis multiplex and cardiomyopathy.	has_symptom
+8bb15aff6a33fd3c62081303a2ee770cdccdc471	Since a challenge test using an intravenous infusion of methylprednisolone sodium succinate worsened the lower limb pain, fever and peripheral blood @PHENOTYPICFEATURE$, a drug allergy was diagnosed together with @DISEASE$.	has_symptom
+a9e593ce1b37a77717bc6c8a8c8a218555f50fb0	Since a challenge test using an intravenous infusion of methylprednisolone sodium succinate worsened the lower limb pain, @PHENOTYPICFEATURE$ and peripheral blood eosinophilia, a drug allergy was diagnosed together with @DISEASE$.	false
+c6cd16e80ec3852f4e82f4252e2c7eae48ff6786	Since a challenge test using an intravenous infusion of methylprednisolone sodium succinate worsened the lower limb pain, @PHENOTYPICFEATURE$ and peripheral blood @DISEASE$, a drug allergy was diagnosed together with Churg-Strauss syndrome.	false
+803199b7b2b40cafff35ca979cf68c828602d1b7	@DISEASE$ (EGPA) is a disease characterized by allergic granulomatosis, necrotizing vasculitis, and peripheral blood @PHENOTYPICFEATURE$.	has_symptom
+edf87fa334e78271e5de81ed9a84c87cf61cf5bb	Some leukotriene receptor antagonists, such as zafirlukast and montelukast, have been associated with systemic @PHENOTYPICFEATURE$, with interest focused on @DISEASE$ (CSS).	has_symptom
+09dc3b022c5000e322a61cb891fd28ba98f1b53d	@PHENOTYPICFEATURE$ and thrombophilia in @DISEASE$: a clinical and pathogenetic overview.	has_symptom
+a4dcf14eea74887f658152c65426e08c4ead8e45	@DISEASE$ is characterized by asthma, eosinophilia and systemic necrotizing vasculitis; cardiac involvement (ie, @PHENOTYPICFEATURE$ heart disease) is the major cause of morbidity and mortality, although there are no reports of an association between left ventricular dysfunction because of eosinophilic heart disease and myocardial blood flow or myocardial fatty acid metabolism.	has_symptom
+7e38e292023adbcd380fa69e80009dc22bb69737	@DISEASE$ is characterized by asthma, eosinophilia and systemic necrotizing vasculitis; cardiac involvement (ie, eosinophilic heart disease) is the major cause of morbidity and mortality, although there are no reports of an association between left ventricular dysfunction because of @PHENOTYPICFEATURE$ heart disease and myocardial blood flow or myocardial fatty acid metabolism.	has_symptom
+07f82609bc885c9993e2e5d37d6603f06e6e7737	@PHENOTYPICFEATURE$ and vasculitis occurring in a patient after dietary supplementation with L-tryptophan were reported, and the prominent cardiac involvement in @DISEASE$ was reemphasized.	has_symptom
+c953f98e69658e2ec51222538d307297d292df14	Here a case of @DISEASE$ with recurrent episodic tachypnea-apnea, minimal orofacial features, several Y-shaped metacarpals, and @PHENOTYPICFEATURE$, diagnosed in the neonatal age, is reported for the first time in Indian literature.	has_symptom
+99a07c44771770681267b1a5d23e805d354a0bf6	The @DISEASE$ (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with a spectrum of serious abnormalities, including multiple dysmorphologies, @PHENOTYPICFEATURE$, cognitive and behavioral impairments, and retinopathy.	has_symptom
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1524a17790cfda5defb4618bfa5098d9b25675ae	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d6cdca5aa7a25ad36b53218064f8ffff5ba64b9a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+ee420f5dcfb778b1fda171f62ab33b33f5628a95	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e15a09993e79b694de2c5f76267b89bfe36fca08	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+3315ced9c9b55c9a09a24e94090a80755a91b47e	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8ae9ce05e8a4ffb24edcfe6cdfb35a38192ef59c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+9a6a95b167f8d4a7de6296b388ec02de89dd06f4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+067d83acedb309fd61064770abf7db4a917313e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+71476b525a9a0b7832e30f44f04b67821f3d12a4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+312e821121bb15d7c50b1574deeb5b936c932045	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+1a059dc6b367b4db9018e75ed6386b7fb97803e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+b941a4707a39047cc049bc4f9507e20162c96269	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+67dd052b36c78a397c8a82d49e0ffc7395fd5e6b	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d4addaf946983c99020bdc22a80aff4b30c34cef	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+b1f4002493e9eac6ccb90755bc78be39d3215967	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @DISEASE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+50534e0d73e98d4b479d42873cfb589e342cca41	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+b6d4167ce10bbf20d5ebe50542c587f55c239cb2	The @DISEASE$ is an autosomal recessive birth defect (frequency 1:20,000-1:40,000) that results in profound mental retardation, physical deformities, and @PHENOTYPICFEATURE$.	has_symptom
+4c2eaa1388a59441b824bc5615183a870121840d	This child had clinical features similar to @DISEASE$ like facial dysmorphism and cardiac and renal anomalies with @PHENOTYPICFEATURE$.	has_symptom
+c96d0e8be709f019f009e3173ba962252f7d1a20	This child had clinical features similar to Smith-Lemli-Opitz syndrome like facial dysmorphism and cardiac and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+35a49c51bb85450fd348991ee93ec3ac5f9ad0a4	This child had clinical features similar to Smith-Lemli-Opitz syndrome like @PHENOTYPICFEATURE$ and cardiac and renal anomalies with @DISEASE$.	false
+0c2c67561fb814a6e33b747d68b9ec7fe041402d	This child had clinical features similar to @DISEASE$ like facial dysmorphism and cardiac and @PHENOTYPICFEATURE$ with failure to thrive.	false
+133f49a31fa1bf945e9ac7921065e7dd7699111d	This child had clinical features similar to @DISEASE$ like @PHENOTYPICFEATURE$ and cardiac and renal anomalies with failure to thrive.	false
+a2b9c6d7d561b0d51059f27ae720ba6736205733	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+1ea1ca853f9c0f504e3220349b0d0bf98f6346af	Smith-Lemli-Opitz syndrome is a recessive @DISEASE$ characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+3644d0af0a103f7ec5179fea39b7b6aaa3604872	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (@PHENOTYPICFEATURE$, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+5b924d74f7ebfb261992f49a1dd6743d9b932ddf	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (@PHENOTYPICFEATURE$, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and @DISEASE$.	false
+95fd7f35d926b8eae72234e5a1bdf3cadc8d53b9	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+4f6d8002fe586ef1d3c31f28885188acbc6b5417	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male pseudohermaphroditism, finger anomalies, and @DISEASE$.	false
+463bf0a82d982ae7b5059d172a03783346cf1569	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (@PHENOTYPICFEATURE$, corpus callosum agenesis, holoprosencephaly, and mental retardation), male @DISEASE$, finger anomalies, and failure to thrive.	false
+2f7f0468b0d8b5cb6fbbbc4fab72fc2189257c51	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male @DISEASE$, finger anomalies, and failure to thrive.	false
+3d3b6fc04c9c0fa4971961c11aee568850ad3e6c	Smith-Lemli-Opitz syndrome is a recessive @DISEASE$ characterized by malformations (@PHENOTYPICFEATURE$, corpus callosum agenesis, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+a0f2d950ba9e15a8c958d4db76c56ed511542b09	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, corpus callosum agenesis, holoprosencephaly, and @PHENOTYPICFEATURE$), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+d71d22778e72328218c8c1c0e6fa28c8e289de68	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and @DISEASE$.	false
+336bd015687b99abcddb3efa97a60a567c66103d	Smith-Lemli-Opitz syndrome is a recessive autosomal genetic disease characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male @DISEASE$, finger anomalies, and failure to thrive.	false
+a4d50c28cefb3c16cc1e67eadd469bd8da349cbd	Smith-Lemli-Opitz syndrome is a recessive @DISEASE$ characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+82b07a3c0e9fe9e326eeeaffbfe53eec1709fb98	In this manner, the @DISEASE$ has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @PHENOTYPICFEATURE$, and, in some cases, stillbirth or infancy/childhood death.	has_symptom
+25de73a15dbb9406f74ad37f5afb60c6298fd188	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the @DISEASE$, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+a4be68c248ecaa2233b8856bc226fa7af38557fa	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and @DISEASE$ structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+70d4514040743f9677bca9917f8f287cf23a11ad	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, @DISEASE$, and, in some cases, stillbirth or infancy/childhood death.	false
+925e126a1dcbf6e098918d1a6792d582fb5b01f0	In this manner, the @DISEASE$ has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+33415e931a7a2b4d8130b795720f6080edd8d92d	In this manner, the RSH syndrome has been identified as another metabolic multiple @DISEASE$/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+05a92e768a791e2f1c75d283e432af6977f799e8	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (@DISEASE$) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+e9692a33cc0bbf683ebe3c8262559595d21d1c29	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) syndrome (prototype @DISEASE$) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+b563819a3fb79b1fce09efa87ff52a5156198ba8	In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/@PHENOTYPICFEATURE$ (MCA/MR) @DISEASE$ (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death.	false
+4f071c6852fdf5faac8994d20df056b936217601	@DISEASE$ (PCD) is a heterogeneous disease with impaired mucociliary transport leading to upper and lower respiratory disorders, @PHENOTYPICFEATURE$ and male infertility.	has_symptom
+ca0eb58e73d41de0348320f22091a72b29f3da43	Primary ciliary dyskinesia (@DISEASE$) is a heterogeneous disease with impaired mucociliary transport leading to upper and lower respiratory disorders, @PHENOTYPICFEATURE$ and male infertility.	has_symptom
+97fcf2f567d567e695ddb431552f136233f2c8b0	Primary ciliary dyskinesia (@DISEASE$) is characterised by chronic suppurative lung disease, rhino-sinusitis, @PHENOTYPICFEATURE$ and sub-fertility.	has_symptom
+da2dd7c3773742989e4661c736b2fd2239950a36	@DISEASE$ (PCD) is characterised by chronic suppurative lung disease, rhino-sinusitis, @PHENOTYPICFEATURE$ and sub-fertility.	has_symptom
+26769ba0b550efb261e808a67a91d44814a7673b	Primary ciliary dyskinesia (@DISEASE$) is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, @PHENOTYPICFEATURE$ and subfertility.	has_symptom
+c49ef1e7b49ac04445a5ef4c783b1402aefabe69	@DISEASE$ (PCD) is an inherited autosomal-recessive disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, @PHENOTYPICFEATURE$ and subfertility.	has_symptom
+646dbcf2e2eaad834223dc2ef450664ee58c6cd3	@DISEASE$ (PCD) is a heterogeneous disease with impaired mucociliary transport leading to respiratory disorders, @PHENOTYPICFEATURE$ and male infertility.	has_symptom
+f3dd42db0243aeaefc5886dcda91d283202a5cb7	Primary ciliary dyskinesia (@DISEASE$) is a heterogeneous disease with impaired mucociliary transport leading to respiratory disorders, @PHENOTYPICFEATURE$ and male infertility.	has_symptom
+abf68996e3f864df2e4f313f8f668c56796ac29a	Other complications associated with @DISEASE$ include congenital heart disease, @PHENOTYPICFEATURE$ and infertility.	has_symptom
+33cbe25b286d6b0f9c910403d8f2f02b36c1afff	Primary ciliary dyskinesia (@DISEASE$) is a rare, mostly autosomal-recessive disorder of motile cilia, characterized by chronic lung disease, rhinosinusitis, @PHENOTYPICFEATURE$, and subfertility.	has_symptom
+8bbbb3de6659e92289082d2b0b18ebab541319ac	@DISEASE$ (PCD) is a rare, mostly autosomal-recessive disorder of motile cilia, characterized by chronic lung disease, rhinosinusitis, @PHENOTYPICFEATURE$, and subfertility.	has_symptom
+d5c969ad1543b694797446789747b70441e9b427	To evaluate the type and severity of @PHENOTYPICFEATURE$ in pediatric patients with primary ciliary dyskinesia (@DISEASE$) and relate these measures to patient demographics, treatment options, and other otologic factors.	has_symptom
+b21d1d1329f9d9b70919868b5f75f82efc450258	To evaluate the type and severity of @PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$ (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors.	has_symptom
+434f0e80aab9e7e496ed664b4d0418a311c5af46	Primary ciliary dyskinesia (@DISEASE$) is a rare, genetic disorder of the motile cilia characterised by chronic lung disease, nasal and sinus disease, chronic ear infections with glue ear leading to possible @PHENOTYPICFEATURE$, and subfertility.	has_symptom
+19af912d8a62f0f183afddcc9f44b7fbdd85db7e	@DISEASE$ (PCD) is a rare, genetic disorder of the motile cilia characterised by chronic lung disease, nasal and sinus disease, chronic ear infections with glue ear leading to possible @PHENOTYPICFEATURE$, and subfertility.	has_symptom
+406800644757dd1976725441fb7a2cb71a179a00	@DISEASE$ (PCD) is a rare (1:15,000) condition resulting in recurrent suppurative respiratory tract infections, progressive lung damage and @PHENOTYPICFEATURE$.	has_symptom
+3a29aa3008403b3a6a5d9d90891262c629658755	Primary ciliary dyskinesia (@DISEASE$) is a rare (1:15,000) condition resulting in recurrent suppurative respiratory tract infections, progressive lung damage and @PHENOTYPICFEATURE$.	has_symptom
+21a502d069cd94a20b8a224a388d89f3c6cc1966	@DISEASE$ is an uncommon, inherited condition causing progressive suppurative airway lung disease with subsequent bronchiectasis, chronic rhinitis-sinusitis, @PHENOTYPICFEATURE$ and reduced fertility.	has_symptom
+96a9c9e4646023aecad2d6e92a74b278b0559625	@PHENOTYPICFEATURE$ renal crisis (SRC) is an extremely infrequent but serious complication that can occur in @DISEASE$.	has_symptom
+0598deb7e3ee8a36eda45be046ccb1f49c772a93	The underlying diseases included mixed CTD (@DISEASE$), systemic @PHENOTYPICFEATURE$, primary Sjogren's syndrome (pSS), systemic lupus erythematosus (SLE), undifferentiated CTD, dermatomyositis and Behcet disease.	has_symptom
+65dfd7d2e94de429bd244b7b0c3d2a960afc3385	Using an assay consisting of isoelectric focussing followed by immunofixation (IEF/IF) for alternative pathway activation product Ba, and an ELISA for C3d that we developed for evaluating lupus plasmas, we assayed 48 plasmas from patients with diffuse cutaneous @PHENOTYPICFEATURE$, 16 patients with the limited CREST variant, 2 patients with mixed connective tissue disease (@DISEASE$) and 4 patients with Raynaud's disease.	has_symptom
+60cf7c16339e37617782432abca9f686dc84388a	We describe a patient with a mixed connective tissue disease (@DISEASE$) existing for more than 15 years, who had polyarthritis, myositis, @PHENOTYPICFEATURE$-like symptoms, pulmonary involvement, and psychosis of undetermined origin.	has_symptom
+a60ac2c9ce7c449c5eaf4f1d4fb4b38c1ef81c17	Endostatin levels were elevated in patients with SSc and MCTD, particularly SSc patients with pulmonary arterial hypertension and @PHENOTYPICFEATURE$ renal crisis, and @DISEASE$ patients with digital ulcers.	has_symptom
+c9de6f63cd4861216d70aab230dec5bcf7cb6cd6	Patient with SJS has problems such as difficulty of intubation owing to microstomia and jaw @PHENOTYPICFEATURE$, and is susceptible to @DISEASE$ by using volatile inhalation anesthetics.	has_symptom
+5042c17d3e16c5b84095c79b2ccab67a3e593114	Piglets less than 8 wk of age that are known by genotype to be @DISEASE$-susceptible (MHS) do not usually develop characteristic hyperthermia and limb @PHENOTYPICFEATURE$ in response to a brief halothane exposure (5 min of 3%).	has_symptom
+50374e9a94001197884d2556d2c27ffc96323259	Piglets less than 8 wk of age that are known by genotype to be malignant hyperthermia-susceptible (MHS) do not usually develop characteristic @PHENOTYPICFEATURE$ and limb @DISEASE$ in response to a brief halothane exposure (5 min of 3%).	false
+506516742f4ae1f98697fe277b2ad7940a9b40e4	Piglets less than 8 wk of age that are known by genotype to be @DISEASE$-susceptible (MHS) do not usually develop characteristic @PHENOTYPICFEATURE$ and limb muscle rigidity in response to a brief halothane exposure (5 min of 3%).	false
+f0d1f6194a4877a85d0331c5d6bd0a611daaf985	Isolated coronary anomalies are rare in @DISEASE$ but should be considered especially in the presence of @PHENOTYPICFEATURE$ or ischemia.	has_symptom
+ac3388af0c6bc8668907e1ea5701d5308a12d3b1	We report a case of a 6-year-old girl with @DISEASE$ who presented with decompensated @PHENOTYPICFEATURE$ due to ischemic cardiomyopathy.	has_symptom
+13a1057b944952dcca3ecb6b2c6e76dfc0a3630d	End-stage ischemic @PHENOTYPICFEATURE$ and @DISEASE$: A unique scenario for pediatric heart transplantation.	has_symptom
+ce2c241c852f4e6c0503eaf6127bf56a762cbb72	The majority of these patients were diagnosed with @DISEASE$, characterized by @PHENOTYPICFEATURE$, ataxia and peripheral neuropathy.	has_symptom
+e2e6db1f9d1627b674db34247a286ae9c2cedfb0	The majority of these patients were diagnosed with @DISEASE$, characterized by optic atrophy, ataxia and @PHENOTYPICFEATURE$.	false
+05e03b136a25c53524aec04385366bc3ac005673	The majority of these patients were diagnosed with Behr syndrome, characterized by @DISEASE$, ataxia and @PHENOTYPICFEATURE$.	false
+e1baf27dab1eb11cfefd78f6aaa20813ab392c31	The majority of these patients were diagnosed with @DISEASE$, characterized by optic atrophy, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+9416061010812e256a932d01c26e0a682b6046d4	The majority of these patients were diagnosed with Behr syndrome, characterized by @DISEASE$, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+87ac3305ab04b89a8b3e34f67a5a92fd24b64602	Thus, OPA1 gene screening is advisable in the workup of patients with recessive @PHENOTYPICFEATURE$, particularly with @DISEASE$ and cataracts.	has_symptom
+9228156571bfad8ed2780f08aba0ebb68b95e3e6	Thus, OPA1 gene screening is advisable in the workup of patients with recessive @DISEASE$, particularly with Behr syndrome and @PHENOTYPICFEATURE$.	false
+f4dfc317d85cd4957cae64e72ea95c483b316f66	Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8d5ae7cf4df64e76b9eb97d5d8c0c68a679d5aac	Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex @PHENOTYPICFEATURE$ syndromes (@DISEASE$).	has_symptom
+41a94f0957ce132c60a5a3bfa52da6f5da15b3d7	A 6-year-old girl with a progressive syndrome of @PHENOTYPICFEATURE$, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	has_symptom
+d306d069b1031fe63fe6a7e35ce518553be7d613	A 6-year-old girl with a progressive syndrome of optic atrophy, @PHENOTYPICFEATURE$, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	false
+0de939c7e4a7f5d2ddcbe2141674246717b7404f	A 6-year-old girl with a progressive syndrome of @DISEASE$, ataxia, @PHENOTYPICFEATURE$ epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described.	false
+e060cf69a31afd24f49e9fcb82c3dc462f5f18db	A 6-year-old girl with a progressive syndrome of @DISEASE$, @PHENOTYPICFEATURE$, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described.	false
+4f2252a2995811b2c3287ab6bf91e882d7e1cc9f	A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, @PHENOTYPICFEATURE$ epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	false
+47317f115bce3627d357ab72e1c18481cfa72e70	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ beginning in early childhood associated with ataxia, spasticity, mental retardation, and posterior column sensory loss.	has_symptom
+d2a639399a33e21c029adcff62ac0b793b7b9040	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, spasticity, @PHENOTYPICFEATURE$, and posterior column sensory loss.	false
+0d8bf60353ba68dad8b728e98eb526e9229ad71a	Behr syndrome is characterized by @DISEASE$ beginning in early childhood associated with ataxia, spasticity, @PHENOTYPICFEATURE$, and posterior column sensory loss.	false
+6eacd62f9cc0a295f752932012fe111e6c588f1c	Behr syndrome is characterized by @DISEASE$ beginning in early childhood associated with @PHENOTYPICFEATURE$, spasticity, mental retardation, and posterior column sensory loss.	false
+11497bb53442aa9be0ce0f86f53ec69e5f957aa5	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, @PHENOTYPICFEATURE$, mental retardation, and posterior column sensory loss.	false
+c03ac16b05967019f3bfe0c0c5b85791c6910944	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with @PHENOTYPICFEATURE$, spasticity, mental retardation, and posterior column sensory loss.	false
+5027caf422dea67e07e4d9990103f89ec9f41913	Behr syndrome is characterized by @DISEASE$ beginning in early childhood associated with ataxia, @PHENOTYPICFEATURE$, mental retardation, and posterior column sensory loss.	false
+8a9014f1bd75135e1aafb2ac2313bd6d55e170d0	@DISEASE$ was first described in 1909 as a syndrome of heredofamilial @PHENOTYPICFEATURE$, visual disturbances, nystagmus, and variable pyramidal tract signs.	has_symptom
+da279143b5547051cbeaf5e9787be2d7f9d193ee	@DISEASE$ is an autosomal recessive disease characterized by early-onset ataxia, @PHENOTYPICFEATURE$ and other signs such as pyramidal tract dysfunction.	has_symptom
+1a1e72de28804f1fb1181dd7b612883f046af749	Behr syndrome is an @DISEASE$ characterized by early-onset @PHENOTYPICFEATURE$, optic atrophy and other signs such as pyramidal tract dysfunction.	false
+a06fac898c503e23733e57a08e97ad01d3348cc6	Behr syndrome is an autosomal recessive disease characterized by early-onset @PHENOTYPICFEATURE$, @DISEASE$ and other signs such as pyramidal tract dysfunction.	false
+3ba6c190519f5aec45b786d201356bba0b91dc68	@DISEASE$ is an autosomal recessive disease characterized by early-onset @PHENOTYPICFEATURE$, optic atrophy and other signs such as pyramidal tract dysfunction.	false
+a82abf2c9074e0db5c7f80dab5dde333cc917235	@DISEASE$ is characterized by the association of early onset @PHENOTYPICFEATURE$, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation.	has_symptom
+050e8c04bbc32dc20b7cd16ba8a355dc42b57110	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, @PHENOTYPICFEATURE$ and mental retardation.	false
+293c54fdc52db40ca764ffb1881946fb64c7a58c	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+c1923316fa61943f7068f7bf61b4846c126b3421	Behr syndrome is characterized by the association of early onset @DISEASE$, @PHENOTYPICFEATURE$, pyramidal signs, peripheral neuropathy and mental retardation.	false
+dec546df71d766ab04d4c0e9ea06a715b2884fae	@DISEASE$ is characterized by the association of early onset optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs, peripheral neuropathy and mental retardation.	false
+b0e0cc70c145fd67430d7aa22c437003eea4cb6a	Behr syndrome is characterized by the association of early onset @DISEASE$, cerebellar ataxia, pyramidal signs, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+f95008858126a5881e070cb3bc07317fd82862c2	Behr syndrome is characterized by the association of early onset @DISEASE$, cerebellar ataxia, pyramidal signs, @PHENOTYPICFEATURE$ and mental retardation.	false
+8b50a63110ddfbc71db4c2032c85e64fe380aece	The present study describes a 10-year-old boy with @DISEASE$ presenting with early?onset severe @PHENOTYPICFEATURE$, sensorimotor neuropathy, ataxia and congenital cataracts.	has_symptom
+d94d8d89046762bbacf132e99e7f79a5b2c0710f	The present study describes a 10-year-old boy with Behr syndrome presenting with early?onset severe optic atrophy, sensorimotor neuropathy, @PHENOTYPICFEATURE$ and congenital @DISEASE$.	false
+1a74d8e86a51e5d8741c68da073725d9397217f1	The present study describes a 10-year-old boy with @DISEASE$ presenting with early?onset severe optic atrophy, sensorimotor neuropathy, @PHENOTYPICFEATURE$ and congenital cataracts.	false
+663a1e3ef44b8e88ae17949169c998597f6d4a4f	The present study describes a 10-year-old boy with Behr syndrome presenting with early?onset severe optic atrophy, sensorimotor @DISEASE$, @PHENOTYPICFEATURE$ and congenital cataracts.	false
+73f98ae07efb2974315d4eb711234d1e53bca796	The present study describes a 10-year-old boy with Behr syndrome presenting with early?onset severe @DISEASE$, sensorimotor neuropathy, @PHENOTYPICFEATURE$ and congenital cataracts.	false
+cd6dafe1daf66cfdb131610cdc6bd12b049a30fd	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @PHENOTYPICFEATURE$, ataxia, pyramidal signs and mental retardation.	has_symptom
+beb6b087b46d6e18dff517af907b17419133a79a	Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @DISEASE$, @PHENOTYPICFEATURE$, pyramidal signs and mental retardation.	false
+5079f2c10723a5a9b199ada7773b52601234a4a1	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, @PHENOTYPICFEATURE$, pyramidal signs and mental retardation.	false
+894effa1051100ee1e56be8f3f8d0b3cbea83b4a	@DISEASE$, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and @PHENOTYPICFEATURE$.	false
+01a14dfa861a424e635a9964a66a5ed46b91eee8	Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive @DISEASE$, ataxia, pyramidal signs and @PHENOTYPICFEATURE$.	false
+c259e52130128905236909cb6f813cb20c4d4811	phacomatosis pigmentovascularis, @DISEASE$) may be complicated with developmental @PHENOTYPICFEATURE$ in the portal veins.	has_symptom
+3cdcfb00f615a11938fb75025a72c33e7bbb3c98	Sturge-Weber syndrome (SWS), @DISEASE$ (KTS), and Parkes-Weber syndrome (PWS) represent a wide range of congenital @PHENOTYPICFEATURE$ syndromes.	has_symptom
+06fa20f7be9f58e568c742224970e67ce32f8ea3	The @DISEASE$ is characterized by striking craniofacial features, microcephaly, mental deficiency, @PHENOTYPICFEATURE$, 2-3 syndactyly of the feet, and genital malformations.	has_symptom
+b4b6893f224e466189246c7ca2d8f080101ab1fd	The Smith-Lemli-Opitz syndrome is characterized by striking craniofacial features, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, 2-3 syndactyly of the feet, and genital malformations.	false
+2258366bfe000aec7632e31b15daffec3c4c6039	The Smith-Lemli-Opitz syndrome is characterized by striking craniofacial features, @PHENOTYPICFEATURE$, mental deficiency, @DISEASE$, 2-3 syndactyly of the feet, and genital malformations.	false
+91fbc102343bd9b96be7872fceb4a5b04ea9780e	The @DISEASE$ is characterized by striking craniofacial features, @PHENOTYPICFEATURE$, mental deficiency, growth retardation, 2-3 syndactyly of the feet, and genital malformations.	false
+d7eceae92aa182923e534eae122ad8dc8a72faf6	The @DISEASE$ is characterized by striking craniofacial features, microcephaly, @PHENOTYPICFEATURE$, growth retardation, 2-3 syndactyly of the feet, and genital malformations.	false
+025e8f2ee1f9d666b30187b55b1826d726813884	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and @PHENOTYPICFEATURE$, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	has_symptom
+a4c21aabd1a35b5a78f7f357a60c536563e2293a	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic @DISEASE$ anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+5a0ea687393302dcb9e2c1f5867e5abc25a49d3b	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @PHENOTYPICFEATURE$, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	false
+61542162c135a73b602805115113521b00816951	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and @DISEASE$, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+7af16046233dcba877f1ec61e2f23a650ba4fca7	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline @DISEASE$, and genital and @PHENOTYPICFEATURE$.	false
+260c0b23fb4f8eb8d148398b891f5a0a0c315575	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @PHENOTYPICFEATURE$, developmental and growth retardation, characteristic facial anomalies, midline @DISEASE$, and genital and limb anomalies.	false
+9716162e51040257d6e0ea9a20dfac8bf6d74e99	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @PHENOTYPICFEATURE$, developmental and @DISEASE$, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	false
+71f33cc98285ed0bc39a99d228c70594e851d587	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive @DISEASE$ comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+5df961e2a420dbea7e3b906aceccfe9383ab2a35	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising @PHENOTYPICFEATURE$, developmental and growth retardation, characteristic @DISEASE$ anomalies, midline cleft palate, and genital and limb anomalies.	false
+958d8f241df7203124db8f7054d5582ae077b198	The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive @DISEASE$ comprising @PHENOTYPICFEATURE$, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies.	false
+7eef7bfe96f61a94c6cee58a6ce18672dc38910a	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+14c6723b10dd14f7a95b0572f9142e40dd09c171	@DISEASE$ (SLOS) is an autosomal-recessive disease characterised by the combination of (foetal) @PHENOTYPICFEATURE$, mental retardation and a typical malformation pattern.	has_symptom
+25f15ae3fae111620d061913abd2305a7499841e	@DISEASE$ (SLOS) is an autosomal-recessive disease characterised by the combination of (foetal) growth retardation, @PHENOTYPICFEATURE$ and a typical malformation pattern.	false
+eecd19d948a62684dd5cfbe1f5921842c78d7f3e	Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive disease characterised by the combination of (foetal) @DISEASE$, @PHENOTYPICFEATURE$ and a typical malformation pattern.	false
+6722919aa4882c7254f770f74bdf85cff7bb4e8c	Smith-Lemli-Opitz syndrome (SLOS) is an @DISEASE$ characterised by the combination of (foetal) growth retardation, @PHENOTYPICFEATURE$ and a typical malformation pattern.	false
+c1c05619660ca2d38ddba39de29a7b23ccea8bd3	Diagnosis in the remaining subjects was related to the clinical features of hepatomegaly, splenomegaly, premature myocardial infarction (about 30% of @DISEASE$ cases) or stroke, thrombocytopenia, anemia, gastrointestinal disorders, @PHENOTYPICFEATURE$, hypocholesterolemia, low HDL cholesterol, or following a familial screening of Tangier patients.	has_symptom
+0d8357245218b5ce150cb8a98d382714da32931f	She had most of the clinical symptoms typically associated with @DISEASE$, including early @PHENOTYPICFEATURE$, yellow-streaked tonsils, hepatomegaly, and variable degrees of peripheral neuropathy, but had no splenomegaly.	has_symptom
+474dca793a4a54df50961cc271e654c259f69873	She had most of the clinical symptoms typically associated with @DISEASE$, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of @PHENOTYPICFEATURE$, but had no splenomegaly.	false
+8f5b6e0aa0b43f4de7356981d7d8be2f7b41f3af	She had most of the clinical symptoms typically associated with Tangier disease, including early @DISEASE$, yellow-streaked tonsils, hepatomegaly, and variable degrees of @PHENOTYPICFEATURE$, but had no splenomegaly.	false
+4983ebca07575d1c9dbb3fc28df29b3e555b9c9a	@DISEASE$ (GIST) is a relatively rare type of @PHENOTYPICFEATURE$.	has_symptom
+98ec68aeca8fb821ecb15247ca9bd7d0b4789010	@DISEASE$ (GISTs) are rare tumors of the gastrointestinal system and comprise only 1% to 3% of all @PHENOTYPICFEATURE$, with the majority of them arising in the stomach.	has_symptom
+e2d90bc4988d50e586178f998f730ed1d1f61424	This paradigm shift occurred over the last two decades and @DISEASE$ have now come to be understood as rare @PHENOTYPICFEATURE$ with predictable behavior and outcome, replacing the older terminologies like leiomyoma, schwannoma or leiomyosarcoma.	has_symptom
+307be57ab3074fa673c7e75a1202d792b642d5d4	Because of the recent controversy over the histogenesis of @DISEASE$, 170 @PHENOTYPICFEATURE$ appearing to be of smooth muscle type with routine stains were studied immunohistochemically.	has_symptom
+6ce50bdceca8e63040d858f09b776e124efe70e1	@DISEASE$ (GISTs) are a specific and rare subset of human @PHENOTYPICFEATURE$.	has_symptom
+394b45d615960805098e425c0c52f0389a0f981c	@DISEASE$ is an autosomal recessive disorder characterized by short stature, brachydactyly, @PHENOTYPICFEATURE$ and cardiac valvular anomalies often responsible for an early death.	has_symptom
+c610d74ae2af4e33b30f56c059b8b8e858755642	@DISEASE$ is an autosomal recessive disorder characterized by short stature, @PHENOTYPICFEATURE$, thick skin and cardiac valvular anomalies often responsible for an early death.	false
+395b6c096b3d72753d5787a3aa25a700956a6cc2	Geleophysic dysplasia is an autosomal recessive disorder characterized by short stature, @PHENOTYPICFEATURE$, @DISEASE$ and cardiac valvular anomalies often responsible for an early death.	false
+2022a55df9ca253e65b50e1552ab6b8852f8ce4a	Geleophysic dysplasia is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, brachydactyly, @DISEASE$ and cardiac valvular anomalies often responsible for an early death.	false
+6d944529866435e0fa80a07ddd4732b2d3309c01	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death.	false
+c9304b3848c89ee2346cad7822d7a2b97b07c6ce	Clinical features included developmental delay, @PHENOTYPICFEATURE$, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (@DISEASE$ and/or stroke-like episodes).	has_symptom
+52835f49b4058818515596875e1580f01cdf60cc	@DISEASE$ is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, @PHENOTYPICFEATURE$, seizures and respiratory failure.	has_symptom
+a6d722ad9d290ab2c06b41e0daf73b04e4051a53	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, @PHENOTYPICFEATURE$, ataxia, dystonia, @DISEASE$, seizures and respiratory failure.	false
+fab3702f39d0c29289ad6995d75b4c75261b4d86	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a21bcdb7eaa542fa5576d6607aa48c1197cee08e	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, @DISEASE$, @PHENOTYPICFEATURE$ and respiratory failure.	false
+2b97543816f49df9645d1e2ecfd7a83ac04fe662	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, seizures and respiratory failure.	false
+095b0d90b871b58227c4eddde5f3df991b8a37f3	@DISEASE$ is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, @PHENOTYPICFEATURE$ and respiratory failure.	false
+6072ddf8dd167d81f010798e770d9c908e8b064e	@DISEASE$ is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, @PHENOTYPICFEATURE$, dystonia, failure to thrive, seizures and respiratory failure.	false
+f401d0c981533578fe0f90d55abe1232e70cc58c	@DISEASE$ is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, @PHENOTYPICFEATURE$, ataxia, dystonia, failure to thrive, seizures and respiratory failure.	false
+eaf9dbb0d086e60b2df6f2a121745edabad186cf	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, @PHENOTYPICFEATURE$, ataxia, dystonia, failure to thrive, seizures and @DISEASE$.	false
+2e58038644a636e51b77ae3d90d6a3dc2ebf43e3	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, @PHENOTYPICFEATURE$, dystonia, failure to thrive, seizures and @DISEASE$.	false
+0a97a1fe820a8e7da3d2403550e504b552826bd3	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$ and respiratory failure.	false
+6feb2e115cf0dea870ce0b0f68f57ddbf54f4d61	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, @PHENOTYPICFEATURE$, ataxia, @DISEASE$, failure to thrive, seizures and respiratory failure.	false
+dd69ed6ee4e698ee86e82b6350ba50b9b5baf969	Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, @PHENOTYPICFEATURE$, dystonia, @DISEASE$, seizures and respiratory failure.	false
+dc93649ebd738df598b24f92824bdc2e4da6cca9	@DISEASE$ is a progressive, infantile-onset, neurodegenerative disorder characterized by feeding difficulties, @PHENOTYPICFEATURE$, hypotonia, seizures, and central respiratory compromise.	has_symptom
+7120674aea73d43f105942083acf9a901dfd673a	The homozygous mutation caused CoQ10 deficiency-associated @DISEASE$ with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, seizures, @PHENOTYPICFEATURE$, and detectable lesions in the midbrain and basal ganglia.	has_symptom
+a0bc0fc84bf4ebf5802c228531d5a59dfcb7473d	The homozygous mutation caused @DISEASE$-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, @PHENOTYPICFEATURE$, failure to thrive, and detectable lesions in the midbrain and basal ganglia.	false
+27ed6509260d04b3ca7af2c5f762c61b509d58cc	The homozygous mutation caused CoQ10 deficiency-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, @PHENOTYPICFEATURE$, @DISEASE$, and detectable lesions in the midbrain and basal ganglia.	false
+331087161351ae0ed97c298d234e9ec8eec836cc	The homozygous mutation caused CoQ10 deficiency-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, and detectable lesions in the midbrain and basal ganglia.	false
+9efc5c9cacd958a8c21fe85704f31be83afb9467	The homozygous mutation caused CoQ10 deficiency-associated @DISEASE$ with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, @PHENOTYPICFEATURE$, failure to thrive, and detectable lesions in the midbrain and basal ganglia.	false
+2308285d13c1f3fd1602b96744cd4c82c57baefd	Mutations in the GABA(A) receptor gamma2 subunit are associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+660aa6fd8464fa7b07b49fce5982b5fbdf03581f	A gamma2(R43Q) substitution is linked to @DISEASE$ and @PHENOTYPICFEATURE$, and a gamma2(K289M) mutation is associated with generalized epilepsy with febrile seizures plus.	has_symptom
+7f9c6767c6b0e6157b6d3e32bd6d7bddcb554ea9	A gamma2(R43Q) substitution is linked to @DISEASE$ and febrile seizure, and a gamma2(K289M) mutation is associated with generalized epilepsy with @PHENOTYPICFEATURE$ plus.	has_symptom
+d49844ce0b03c2f9b68c574725f6a441e64cd997	They are commonly associated with @PHENOTYPICFEATURE$ (FS), @DISEASE$ (CAE) and particularly with generalised or genetic epilepsy with febrile seizures plus (GEFS+).	has_symptom
+e220da9d50bcb452e5240538e15fc790d26d2637	They are commonly associated with febrile seizures (FS), @DISEASE$ (CAE) and particularly with generalised or genetic epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+).	has_symptom
+9559ca1b98e441063719bf052a1f02b883444dfd	@DISEASE$ and @PHENOTYPICFEATURE$: a family with a GABA(A) receptor mutation.	has_symptom
+dc9da3e8c73e9752d671d031b1e041d26baa33a6	R43Q mutation affecting the ?2-subunit N-terminal domain has been related to @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+78f8dcac1e847b042c58eb573b716b191cb40d08	To report a clinical and genetic study of a large family with @PHENOTYPICFEATURE$ (FS) and @DISEASE$ (CAE).	has_symptom
+f11de240e3eb0d199e3c8c5fdc1a686d54321868	BFIS co-occurred with migraine and @PHENOTYPICFEATURE$ in 2 families, with @DISEASE$ in one family and with hemiplegic migraine in one family.	has_symptom
+b6c0b540ec4cf8029cd26636f456848492e2ad62	Children with @PHENOTYPICFEATURE$ were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have @DISEASE$ and absence seizures compared with children without febrile seizures.	has_symptom
+d705920ba249e43a2eb483c143f6695c00317c95	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with @PHENOTYPICFEATURE$ and less likely to have @DISEASE$ and absence seizures compared with children without febrile seizures.	has_symptom
+f072b43a0cae5a2c1b9f9b27f7022178cab1dcda	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have @DISEASE$ and absence seizures compared with children without @PHENOTYPICFEATURE$.	has_symptom
+6b2e812b29639b4e13b41e20727cbd14bc8642f9	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with @DISEASE$ and less likely to have childhood absence epilepsy and @PHENOTYPICFEATURE$ compared with children without febrile seizures.	false
+aedd0ccaf1a7b84dce7337ce2ed5d42cf4f12c27	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have childhood absence epilepsy and @PHENOTYPICFEATURE$ compared with children without @DISEASE$.	false
+63ed21d365043fda214a907148bf3b663ab8a12e	Children with febrile seizures were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have @DISEASE$ and @PHENOTYPICFEATURE$ compared with children without febrile seizures.	false
+870245afc9a64e06e3c350f6fa12b46c174606de	Children with @DISEASE$ were more likely to have a first-degree or a second-higher-degree relative with febrile seizures and less likely to have childhood absence epilepsy and @PHENOTYPICFEATURE$ compared with children without febrile seizures.	false
+4f6a734d4eefecae81be7d35631751915e517aca	The GABAA receptor gamma2 subunit R43Q mutation linked to @DISEASE$ and @PHENOTYPICFEATURE$ causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.	has_symptom
+bc744046d9eb8f5ba2e210bfce1e08e470bcc555	The GABA(A) receptor gamma2 subunit mutation R43Q is an autosomal dominant mutation associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+cbec69d9ddadda6cce9dfb49854f7afbef8c8dc0	This review illustrates the main radiographic features of @DISEASE$, focusing on the musculoskeletal system, such as soft-tissue calcification, @PHENOTYPICFEATURE$, osteoporosis, foot deformities, osteitis and osteomyelitis, and bone or soft-tissues malignancies.	has_symptom
+5082305225a6a4c2d8219e3514c1ec2d0a07bd1a	This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, @DISEASE$, osteoporosis, @PHENOTYPICFEATURE$, osteitis and osteomyelitis, and bone or soft-tissues malignancies.	false
+7f40b118e27c49c7d9e8434d00c4219324c872e6	This review illustrates the main radiographic features of @DISEASE$, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, @PHENOTYPICFEATURE$, osteitis and osteomyelitis, and bone or soft-tissues malignancies.	false
+51d681e81aa4a4d9e4047053b5af57a6d6781747	This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, @PHENOTYPICFEATURE$, osteitis and osteomyelitis, and bone or soft-tissues @DISEASE$.	false
+765ea7dbb7568d9eee7119617b21de1d46acf983	This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, @PHENOTYPICFEATURE$, osteitis and @DISEASE$, and bone or soft-tissues malignancies.	false
+8f8852af9fd757fe49bad911e4b09ddb96bc171b	@DISEASE$ (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and @PHENOTYPICFEATURE$.	has_symptom
+74a9e80279ce5faad00f024fb949d7e262be5d08	Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe @PHENOTYPICFEATURE$, and dysmorphic facial appearance with receding forehead, prominent nose, and @DISEASE$.	false
+936befa5bf65387d358851834d3d2b9e796b2508	@DISEASE$ (MIM 210600) is an autosomal recessive disorder of low birth weight, severe @PHENOTYPICFEATURE$, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia.	false
+cf17725ebf57b61d9526739bee6cc954ef13f342	Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe @PHENOTYPICFEATURE$, and dysmorphic @DISEASE$ appearance with receding forehead, prominent nose, and micrognathia.	false
+ff02538bfdb001e4194760bfbabe03dc176ca9af	This is a case report of a 21-year-old with possible @DISEASE$ (bird-headed dwarfism), @PHENOTYPICFEATURE$, microdontia, severe bony undercuts, and periodontal disease who sought treatment at a university dental clinic.	has_symptom
+e8fbffd369fa39b50e5b4c43b8c787668b39276b	@DISEASE$ is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and @PHENOTYPICFEATURE$.	has_symptom
+0a3f916a7a78757ec9d8391a21ae53e17043bd9c	@DISEASE$ is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, @PHENOTYPICFEATURE$, and "bird-like" face with prominent, beak-like nose and micrognathia.	false
+9b8ff341d777aaf2f35aebbe537ced6c2d2705ea	Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, @PHENOTYPICFEATURE$, and "bird-like" face with prominent, beak-like nose and @DISEASE$.	false
+96ff173dd1b1c7d3f988e0d6f9d1c1afc9a93778	In certain respects, they share similarities with the @DISEASE$: small forehead, moderately prominent nose, @PHENOTYPICFEATURE$, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation.	has_symptom
+77eff92598b66218744771de402acd0976831777	In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, @DISEASE$, pronounced intrauterine and postnatal growth retardation, microcephaly, and @PHENOTYPICFEATURE$.	false
+d88f9a36dd802f3ddbd50e253f8af51ab44d431e	In certain respects, they share similarities with the @DISEASE$: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and @PHENOTYPICFEATURE$.	false
+921e17ad75613d466bf0662fa47b3b9f16774fda	In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, @DISEASE$, pronounced intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, and mental retardation.	false
+4d5766db0a543bd0a5767182b7afe9f7b78fc547	In certain respects, they share similarities with the @DISEASE$: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, and mental retardation.	false
+9cba5dde3cbb909cb65f8a72e8f578a09b0cee05	To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with @DISEASE$ (microcephaly, @PHENOTYPICFEATURE$, craniosynostosis, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis.	has_symptom
+cec817fd0ca68986fe775228f79f11cde31f958e	To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with Seckel syndrome (@PHENOTYPICFEATURE$, @DISEASE$, craniosynostosis, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis.	false
+351bbbac25f1474200e8e2ec98c3a42ae326602c	To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with @DISEASE$ (@PHENOTYPICFEATURE$, micrognathia, craniosynostosis, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis.	false
+978c3364ac6940170f933d8d3505735b38f20e9b	To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with Seckel syndrome (@PHENOTYPICFEATURE$, micrognathia, @DISEASE$, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis.	false
+23f60a9d78829aadce35bb46c2d98cf338288c06	In the present communication we report on a family with three children affected by @DISEASE$ with mental deficiency, microcephaly, @PHENOTYPICFEATURE$ and severe growth deficiency.	has_symptom
+e7f6b16bb220803e686ae64c9933aa651b01ca6d	In the present communication we report on a family with three children affected by Seckel-syndrome with mental deficiency, @PHENOTYPICFEATURE$, @DISEASE$ and severe growth deficiency.	false
+fb9b169cef0707d19a2cdc6be37820f1e3710b2d	In the present communication we report on a family with three children affected by Seckel-syndrome with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$ and severe growth deficiency.	false
+24bb524922e13f31c6dd725bfa322532a0becccd	In the present communication we report on a family with three children affected by @DISEASE$ with mental deficiency, @PHENOTYPICFEATURE$, micrognathia and severe growth deficiency.	false
+772d19fe31af27b78110175ab880d67bfc89a8bd	In the present communication we report on a family with three children affected by @DISEASE$ with @PHENOTYPICFEATURE$, microcephaly, micrognathia and severe growth deficiency.	false
+065f361bc4add55cc7d1f71ed3d4ad2f316335a4	@DISEASE$ is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, @PHENOTYPICFEATURE$, and a bird-head appearance.	has_symptom
+a280db5a36cdf5cf95b9f8249b8f039a799fe04a	@DISEASE$ is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as @PHENOTYPICFEATURE$, micrognathia, and a bird-head appearance.	false
+1157afe2cd47edc612c781512ac2916227abb95a	Seckel syndrome is a rare form of primordial dwarfism that is characterized by @PHENOTYPICFEATURE$, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, @DISEASE$, and a bird-head appearance.	false
+5e0f665e36c093e6cb6a98ff3d4d7064c6767ee0	@DISEASE$ is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, @PHENOTYPICFEATURE$, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance.	false
+3341076e827c6b264367633a491e7d112a2969fb	Seckel syndrome is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, @PHENOTYPICFEATURE$, and characteristic facial features such as microcephaly, @DISEASE$, and a bird-head appearance.	false
+cd755b77bf77f4b8814e1fc9cb5acbf46db5e976	@DISEASE$ is a rare form of primordial dwarfism that is characterized by @PHENOTYPICFEATURE$, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance.	false
+8ee4018c7c0a4d4b5f8dc9d1e989817783960913	Seckel syndrome is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as @PHENOTYPICFEATURE$, @DISEASE$, and a bird-head appearance.	false
+c3a406697e8ddfb674f36af8fe16676c32e09ca8	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including @PHENOTYPICFEATURE$, a recessed forehead, and a large beaked nose.	has_symptom
+96edca62401890628c7213e38d664d923d5894b2	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with @PHENOTYPICFEATURE$, and facial dysmorphisms including @DISEASE$, a recessed forehead, and a large beaked nose.	false
+6e1d1d981496112bacd794de6e6098a17bf36583	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, @PHENOTYPICFEATURE$ with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+4a22ab4514a6ddf31d8019c4d10bc2f4e8026f88	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal @PHENOTYPICFEATURE$, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+85fd45ab45ed20640935491e5baca6535eb44420	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, @PHENOTYPICFEATURE$ with mental retardation, and facial dysmorphisms including @DISEASE$, a recessed forehead, and a large beaked nose.	false
+272ad4d66db38b7ff4f4ff793d4ed4f339694a1d	@DISEASE$ is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with @PHENOTYPICFEATURE$, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+7120904510898908b85070cd6055c83dbd64158f	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with @PHENOTYPICFEATURE$, and @DISEASE$ dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+3656d049c16c9aaebcbfd8cd5c9d8ebadc7ad1d0	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal @PHENOTYPICFEATURE$, microcephaly with mental retardation, and @DISEASE$ dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+d484781d070d633bb53aa3d275803f4f29587f9a	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, @PHENOTYPICFEATURE$ with mental retardation, and @DISEASE$ dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose.	false
+d7f11a201e6537d703696864729f9ea06afe246e	Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal @PHENOTYPICFEATURE$, microcephaly with mental retardation, and facial dysmorphisms including @DISEASE$, a recessed forehead, and a large beaked nose.	false
+63493772866a21d8f554e7fc491134115b745d01	Here we report on an exceptional @DISEASE$ patient with recurrent episodes of cyclic neutropenia, skin @PHENOTYPICFEATURE$ and recurrent infections associated with a transient, but reproducible CD80 expression defect on stimulated B cells.	has_symptom
+ea2b029c85c0049d40871ed4479b581796f6cf40	We report a patient with @DISEASE$ who had @PHENOTYPICFEATURE$, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.	has_symptom
+cc2cb02f73334b553897270e1e06d4e9363a8708	We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, @DISEASE$ steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+dbaa70d3524d522f611ffe08abb0274e02bb7f76	We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, @DISEASE$ dysfunction, hepatic steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+aa34b34171680968995c76233c329d0125ba1524	We report a patient with Alstrom syndrome who had @DISEASE$, hepatic dysfunction, hepatic steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+abb82bcf8421cd695157e6efa93fd6732e31d71c	We report a patient with @DISEASE$ who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+4801ee3d3e386b8d0b02d69287e41fc03e596d2f	Tachycardia, weight loss, @PHENOTYPICFEATURE$ and increasing nervosity led to the diagnosis of concomitant @DISEASE$.	has_symptom
+2d95c791a25a9a7469fa93ca896b83749aba3314	Tachycardia, @PHENOTYPICFEATURE$, sleep disturbances and increasing nervosity led to the diagnosis of concomitant @DISEASE$.	false
+5901725bb3146f66167609b8128e53cb0b5f13f3	Tachycardia, @PHENOTYPICFEATURE$, @DISEASE$ and increasing nervosity led to the diagnosis of concomitant hyperthyroidism.	false
+409ca7b2932b7c0005a247430dc73beb21f114c2	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	has_symptom
+3975c2f3b3bdbea08f4a6f9b9c1887ab411c7917	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, @DISEASE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+a778ff6005b1438474600479190466e3d26e44f0	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+e5db6e92000bb72f3aa38d75c59d6d715ab12ee5	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, @DISEASE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+0b507f7f2e6318ac98c5a2d71d03e75c4e84c2c4	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+59b6bd926717da282d6688f55575233cba435216	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+765f35cd1dfc42f61f08ceb1d457ecdf7283f9c6	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @DISEASE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+620807a880b735c996adf14f374959c2b60b3ba4	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, @DISEASE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+8ec5fc64f3a6741f61b65c154c59d23b42d981db	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+abc1a6557ff44c3429b70ebbd6a85c958c9958a2	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+9cbbfe798801c3b3218d086f0db865e5b3d94ce7	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, @DISEASE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+6178946dd581e3a31dc402dfdc591e7c410382a8	Based on these data, we propose a phenotype map for several clinical features of the @DISEASE$: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and seizures to the distal 8 Mb and @PHENOTYPICFEATURE$ and short neck to the proximal half of 18p.	has_symptom
+f08cabd0c2a17f12388df3bc3170ddd5048c7920	Based on these data, we propose a phenotype map for several clinical features of the @DISEASE$: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and @PHENOTYPICFEATURE$ to the distal 8 Mb and ptosis and short neck to the proximal half of 18p.	false
+c533d0554e8923ffb552c58b5cd2e1c020373c23	Based on these data, we propose a phenotype map for several clinical features of the 18p- syndrome: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and @PHENOTYPICFEATURE$ to the distal 8 Mb and @DISEASE$ and short neck to the proximal half of 18p.	false
+04c4ad4bce6b28e4445af740f415038c68896170	The most common abnormalities include pectus excavatum, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+43be2f79c13d528a668aa920bc419f927613a6fb	After adjusting for age, gender and amount of education, @PHENOTYPICFEATURE$ was significantly associated with MMSE and AS scores, but not with @DISEASE$-D scores.	has_symptom
+4e05c8e7237ff55ea4e6d915c0c5789988efd534	This study highlights the clinical effectiveness of @DISEASE$ for Usher syndrome diagnosis in a child presented with @PHENOTYPICFEATURE$.	has_symptom
+d613be81132f0a4277f88bbf3d828592d03f0cb5	However, the positive reaction from patients and the potential of @DISEASE$ for specific patient groups (the @PHENOTYPICFEATURE$, shy, or socially isolated) encourage us to continue with piloting such innovative communication methods with the public.	has_symptom
+4f4f2264f927ad43e0b024df1c4f6cca5dd4d08c	@DISEASE$ is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@PHENOTYPICFEATURE$, mental retardation and facial features.	has_symptom
+575560c705dd258a386fa057d7652fb407601d4e	@DISEASE$ is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, @PHENOTYPICFEATURE$ and facial features.	false
+995d43d46f2098194c7b801ffe28e541ca046b5a	Andermann syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-sensory neuropathy, mental retardation and @DISEASE$ features.	false
+7f26991bff32aedd2d2fda6bc109748ca115dc92	@DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-sensory neuropathy, mental retardation and facial features.	false
+bf872e52367e5ab447a7237874e07602e255b36e	Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, @PHENOTYPICFEATURE$ and @DISEASE$ features.	false
+82c333939d8a7cf20851336b5556ce3883b434d4	Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-@DISEASE$, @PHENOTYPICFEATURE$ and facial features.	false
+e96569b4603aab720687d7ec13b7e7ac124c28fe	Andermann syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ (ACC), progressive motor-@DISEASE$, mental retardation and facial features.	false
+18fd93c2c027e40b175adacc2cf0c8360c3d97cf	@DISEASE$ (WS) is a rare congenital disorder primarily characterized by characteristic @PHENOTYPICFEATURE$ as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness.	has_symptom
+c10d924a6fcfc7cc2808b3588ad51be675adba72	Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic @DISEASE$ as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or @PHENOTYPICFEATURE$.	false
+fc729211267f7594603cdce62e376ddd6da3bc52	@DISEASE$ (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or @PHENOTYPICFEATURE$.	false
+a1acc195c601672a4f09496e51c219e2faa7d0ca	@DISEASE$ is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, hypotrichosis, @PHENOTYPICFEATURE$, and multiple milia.	has_symptom
+4e03bf2067c3ee683a43a65065b2b89d09ff3237	@DISEASE$ is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, @PHENOTYPICFEATURE$, hypohidrosis, and multiple milia.	false
+f64f4c321563f92f0f4d153f4a7b48fc9c710dd5	Bazex-Dupr?-Christol syndrome is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, @PHENOTYPICFEATURE$, @DISEASE$, and multiple milia.	false
+0c247616ba98922afa12b2fe3439e7652f8f1132	Bazex-Dupr?-Christol syndrome is a rare X-linked genodermatosis characterized by early-onset @DISEASE$, atrophoderma follicularis, @PHENOTYPICFEATURE$, hypohidrosis, and multiple milia.	false
+d71f4fd3a77e3071cbfe68a1688ff2bd366819af	Isolated unilateral @DISEASE$-associated @PHENOTYPICFEATURE$ disease in a neonate.	has_symptom
+981360139ad0255641fcb10fe2e9b92172be977c	The natural history of @PHENOTYPICFEATURE$ in an infant with @DISEASE$: evaluation with ultrasound.	has_symptom
+bb366cbeea21bed6ac0405d474943dcca9dea935	We studied 27 unrelated patients with @DISEASE$ and @PHENOTYPICFEATURE$ disease.	has_symptom
+1c3ad2f85ec97166a242719c15b9e624893ab46a	In @DISEASE$, @PHENOTYPICFEATURE$ are associated with angiomyolipomas and sometimes pulmonary lymphangioleiomyomatosis.	has_symptom
+4051a5a3d8df91f69009dc33aa2a268f4b55e4ae	Cerebral aneurysm, @PHENOTYPICFEATURE$ and hamartomas in a case of @DISEASE$.	has_symptom
+52c9be1e42ed6361c58bd7d1980e843ecc7f576d	Cardiac rhabdomyoma and renal cyst in a fetus: early onset of @DISEASE$ with @PHENOTYPICFEATURE$ disease.	has_symptom
+222d9a1ad70c11e35684420383760bf4cd9c1167	Cardiac rhabdomyoma and @PHENOTYPICFEATURE$ in a fetus: early onset of @DISEASE$ with renal cystic disease.	has_symptom
+fe2d93f2cec59421bb1fb14e797236b83fc7496c	Angiomyolipomas and @PHENOTYPICFEATURE$ are commonly observed in patients with systemic @DISEASE$.	has_symptom
+c1c1efe34c370da1625c127fb391eb8b9269ffbc	We report on an infant in whom bilateral @PHENOTYPICFEATURE$ were the only initial manifestation of @DISEASE$.	has_symptom
+909ebdbc47953288ae6705a6444fbf79ef513fc4	Renal angiolipomas combined with @PHENOTYPICFEATURE$ disease in @DISEASE$.	has_symptom
+e8518d17f305717d54219904f4d16e14cdb74df8	Early presentation of @DISEASE$ as bilateral @PHENOTYPICFEATURE$.	has_symptom
+9699623e523a356effa245b62f4ca991a7ef817a	@DISEASE$ (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+50e0d1e64a788a8093adac252c78feaad6065494	@DISEASE$ and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure @PHENOTYPICFEATURE$ phenotype (ADCA III).	has_symptom
+7084c77d188f77d41319454dcbc6f3f4c4c95046	@DISEASE$ is an autosomal dominant disorder, which causes late onset pure @PHENOTYPICFEATURE$.	has_symptom
+2d6b0b051f8fae9ad641bf784f93bc5755e98486	Deletions of ITPR1 are known to cause @DISEASE$, a distinct and very slowly progressive form of @PHENOTYPICFEATURE$ with onset in adulthood.	has_symptom
+41f3e3661c8f149903036f68e47c8cf3d5c3aad7	@DISEASE$ (SCA15) is a pure @PHENOTYPICFEATURE$ characterized by very slow progression.	has_symptom
+f0fee6eac0939ded410574af11e885027d8d031d	@DISEASE$ (SCA15) is an autosomal dominant neurodegenerative disorder clinically characterized by late-onset, slowly progressive pure @PHENOTYPICFEATURE$.	has_symptom
+5708d248cce7c3148ebbe4a79651a1466a35d708	@DISEASE$ (SCA15) is a group of human neurodegenerative disorders characterized by a slowly progressing pure @PHENOTYPICFEATURE$.	has_symptom
+caf00faef59b05a5abe65110b93c67a1a3e6a290	@DISEASE$ (SCA15) is a slowly progressive neurodegenerative disorder characterized by @PHENOTYPICFEATURE$.	has_symptom
+3344ba3dc5f620ababb5a29c5c28cb6d0d2a886a	A genome-wide single nucleotide polymorphism screen did not show clear linkage to known spinocerebellar @PHENOTYPICFEATURE$ loci, in particular @DISEASE$.	has_symptom
+3dbd0d250f2c0b4c03a3e66da00aa84ecc593d1b	@DISEASE$ (SCA15) is a progressive neurodegenerative disorder characterized by pure @PHENOTYPICFEATURE$, very slow progression, and distinct cerebellar atrophy.	has_symptom
+66ca29eed679a48d0e8674840a2680785dd3f727	A father and daughter had the characteristic findings of @DISEASE$ including microcephaly, short palpebral fissures, @PHENOTYPICFEATURE$ with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes.	has_symptom
+9789951a6b99f0988b8bd27da18e9d939cc048b5	A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, @DISEASE$ with clinodactyly of fifth fingers, and bilateral @PHENOTYPICFEATURE$ of second to third and fourth to fifth toes.	false
+d8d89d9e42e546d8cd03d9d20b511d35cb0d4d16	A father and daughter had the characteristic findings of @DISEASE$ including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral @PHENOTYPICFEATURE$ of second to third and fourth to fifth toes.	false
+69871461787a2ef4552b63d975058f8d63f81e33	A father and daughter had the characteristic findings of Feingold syndrome including @PHENOTYPICFEATURE$, short palpebral fissures, @DISEASE$ with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes.	false
+4a04381761ed0f4a0ba9a0995ee6005366414b11	A father and daughter had the characteristic findings of @DISEASE$ including @PHENOTYPICFEATURE$, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes.	false
+6abbcf61c1b02b763f7b3f9129cc5b6b2bddfd64	These clinical findings define the syndrome of @PHENOTYPICFEATURE$ A4-Temtamy type (MIM 112800), suggesting that brachydactyly A4 would be a partially expressed @DISEASE$.	has_symptom
+124cda307cad95ce22ec04ceceac7346c55cac70	These clinical findings define the syndrome of brachydactyly A4-Temtamy type (MIM 112800), suggesting that @PHENOTYPICFEATURE$ A4 would be a partially expressed @DISEASE$.	has_symptom
+2116d4489b4a84b4f1ae2ce692a9a23bc0eb6947	@DISEASE$ is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and @PHENOTYPICFEATURE$.	has_symptom
+ecf451fd65c2f70d0135ddf5bad7fcba7dd60259	Neonatal-onset multisystem inflammatory disease is characterized by @PHENOTYPICFEATURE$, urticarial rash, @DISEASE$, deforming arthropathy, hearing loss, and mental retardation.	false
+788bb188d2eec7e280023cfc29e79cc193d1afe6	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation.	false
+6df0326361529c1202a4f3d6037e50e10a631977	Neonatal-onset multisystem inflammatory disease is characterized by @PHENOTYPICFEATURE$, urticarial rash, aseptic meningitis, deforming @DISEASE$, hearing loss, and mental retardation.	false
+8115cdee8f174e9343162b776405d9cc8ba096e3	Neonatal-onset multisystem inflammatory disease is characterized by @PHENOTYPICFEATURE$, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and @DISEASE$.	false
+0f09a297828fb78db8f77061777713d8e3e009c0	Neonatal-onset multisystem inflammatory disease is characterized by @PHENOTYPICFEATURE$, urticarial rash, aseptic meningitis, deforming arthropathy, @DISEASE$, and mental retardation.	false
+1ff29c0c7a0d701b24eb1ee762f559f39d13347a	We are reporting a case of a 21-year-old pregnant woman with a bicornuate uterus, fetal @PHENOTYPICFEATURE$, and a family history of diabetes that were suggestive of a @DISEASE$ diabetes.	has_symptom
+889e1777113517346b9b4e13351c163af28fa999	@PHENOTYPICFEATURE$, short stature and synpolydactyly in a manifesting heterozygote of @DISEASE$.	has_symptom
+a4c74ad48908e9513054e2b17bc8d9ee478857d5	Mental retardation, @PHENOTYPICFEATURE$ and synpolydactyly in a manifesting heterozygote of @DISEASE$.	false
+3c709004fcb6b7b5f95a4d6632df35422ee00f0d	@DISEASE$, @PHENOTYPICFEATURE$ and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome.	false
+80a00b1bd0c06472733044e43d9766ca242db6d4	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	has_symptom
+39e1771bdfd28bfb9f7266f4077601f78aaa1661	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	has_symptom
+52519f93c1c960013674f92d810b3dc3bd7b5259	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @PHENOTYPICFEATURE$ uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	has_symptom
+6549bee2803056591a980babe4c5b5711a20a288	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+12c84568236b42d2c076d17b34a432122bd0dc22	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+b9cd713b84ed521fd16dee93d265c694b79b0604	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @DISEASE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+376e536be3ce7536900d0d5954db99f2240b1330	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @DISEASE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+315126d3083fe34e18388d967ab1e4d559432b2b	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old @DISEASE$ uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+fb1a75693ebec5cbf237162cce85be4d50b3965b	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+3b3dafeb0d8ea28b408fee1af63186d973d969cd	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+37880626aa5e0ff67d1e087fd02ea8d388de8703	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+acc7a4dcede2a6bf2cd189be608b460a8238f4d1	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+96e0f26bc1a3364419aea3622835a203cdd3ec3a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and @PHENOTYPICFEATURE$.	false
+85c84e4c07eb4971f9a1d01b213879f5bfaa04ea	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including @PHENOTYPICFEATURE$, thumb hypoplasia, and microphthalmia.	false
+694859f01ac0f07a8153ce326df3b6f03c50324a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+aff04c3f5d356f6625f326618cb2626166ac6175	Clinically, the patient had multiple phenotypic features typical of @DISEASE$ including @PHENOTYPICFEATURE$, coarse facial features, kypho-lordosis, pectus carinatum and umbilical hernia.	has_symptom
+c65baec2d50054960fba1803e9bb548fef501708	Of the remaining 36 patients, 12 had Leber's hereditary optic neuropathy (LHON), 11 had dominant @PHENOTYPICFEATURE$, 12 had WS/WS-like syndrome, 2 had recessive optic atrophy and 1 had @DISEASE$.	has_symptom
+8c858530d899e72e8c45b44e9f971b66c77d445b	Of the remaining 36 patients, 12 had Leber's hereditary optic neuropathy (LHON), 11 had dominant optic atrophy, 12 had WS/WS-like syndrome, 2 had recessive @PHENOTYPICFEATURE$ and 1 had @DISEASE$.	has_symptom
+cf131155f4e7a137d534b4a77dae5176c83be5b5	Clinical features that predict high risk for progression to ESRD in patients with @DISEASE$ include genotype, early onset of @PHENOTYPICFEATURE$, a urologic event before age 35 years, and a large height-adjusted total kidney volume.	has_symptom
+c90a8e60f072c966c2025b5573c334f403a90f9b	In recent years, two models for predicting progression in @DISEASE$ have been published: the Mayo model, based on height-adjusted TKV, age and eGFR, and the Brest model, based on PKD gene mutation type, gender, and early onset of @PHENOTYPICFEATURE$ and urological complications.	has_symptom
+befc3e800ec1dc11beb06dc68406d91fa8a21eba	Fifteen hypertensive and 16 normotensive patients with @DISEASE$ with preserved renal function, 16 patients with essential @PHENOTYPICFEATURE$, and 24 healthy subjects were included in the study.	has_symptom
+421f1b6a6443fa443b740c2ce69ca43b7b760b71	As a potentially modifiable risk factor, we examined whether serum uric acid levels correlate with early @PHENOTYPICFEATURE$, kidney volume and progression to end-stage renal disease (ESRD) in autosomal-dominant polycystic kidney disease (@DISEASE$).	has_symptom
+72ce602363aae599da159df52da42e3137eea8fb	As a potentially modifiable risk factor, we examined whether serum uric acid levels correlate with early @PHENOTYPICFEATURE$, kidney volume and progression to end-stage renal disease (ESRD) in @DISEASE$ (ADPKD).	has_symptom
+6cb2cc21e15ae84f50511d3bfaed9eda97dc6b74	In this study, we examined the relative usefulness of serum copeptin levels as a surrogate marker of vasopressin (AVP) in adult polycystic kidney disease (@DISEASE$) by correlating it with baseline and longitudinal changes in markers of both renal function and common CVD manifestations (@PHENOTYPICFEATURE$ vascular disease, atherosclerosis and endothelial dysfunction) that accompany the progression of this disease.	has_symptom
+ce8c4ba8a6cce0774b23da133b3e2b413baa5a0e	Cardiovascular disease, closely related to an early appearance of @PHENOTYPICFEATURE$, is the most common mortality cause among @DISEASE$ patients (ADPKD).	has_symptom
+f6d3a7c6d4526c8cfc78e09bb16bee26bc3eb323	Cardiovascular disease, closely related to an early appearance of @PHENOTYPICFEATURE$, is the most common mortality cause among autosomal dominant polycystic kidney disease patients (@DISEASE$).	has_symptom
+4a097cb5fb2a4bba5515f4fd1b0287ad70f877bb	Fifteen hypertensive and 16 normotensive patients with @DISEASE$ with well-preserved renal function, 16 patients with essential @PHENOTYPICFEATURE$, and 24 healthy subjects were included in the study.	has_symptom
+6c639383192ea80a9d7cf4e6bb765e99dfee24b3	Autosomal dominant polycystic kidney disease (@DISEASE$) is associated with a substantial cardiovascular disease burden including early onset @PHENOTYPICFEATURE$, intracranial aneurysms, and left ventricular hypertrophy (LVH).	has_symptom
+707e4212acf547853a5a93140acf64c4979155ab	@DISEASE$ (ADPKD) is associated with a substantial cardiovascular disease burden including early onset @PHENOTYPICFEATURE$, intracranial aneurysms, and left ventricular hypertrophy (LVH).	has_symptom
+daee0da2b7b7e1575ea3b2709bce7774689a8bb3	The increase in left ventricular mass is attributed to the compensatory myocardial remodeling associated with @PHENOTYPICFEATURE$, which is also highly prevalent in those with @DISEASE$.	has_symptom
+b6535b0b66c0589ec4a1028c659aacbfa7ec9da6	The main causes of CKD were 29.8% diabetic nephropathy, 19.9% chronic glomerulonephritis, 16.3% @PHENOTYPICFEATURE$ nephrosclerosis, 14.0% unknown, 5.3% amyloidosis, 4.7% @DISEASE$, 4.1% chronic tubuluointerstitial nephritis, 3.5% malignancies, 1.7% benign prostatic hypertrophy, 0.6% Alport syndrome.	has_symptom
+ef2a0aece89809c2a579d8441465453bdad4bed2	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes @DISEASE$ in a girl from a consanguineous Turkish family presenting with congenital cataracts, @PHENOTYPICFEATURE$, absent visually evoked potentials, microcephaly, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	has_symptom
+c994b7b1b4e7caf3c0d9b9e422e705fdf2a59a98	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital @DISEASE$, microphthalmia, absent visually evoked potentials, @PHENOTYPICFEATURE$, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	false
+479fe3dde76c17c0d9088d8f0709d648d4651b1b	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes @DISEASE$ in a girl from a consanguineous Turkish family presenting with congenital cataracts, microphthalmia, absent visually evoked potentials, @PHENOTYPICFEATURE$, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	false
+79ae4b98d1c2afcf542b713c9fb3297a0621e57d	Here, we report a novel homozygous RAB3GAP2 small in-frame deletion, c.499_507delTTCTACACT (p.Phe167_Thr169del) that causes Warburg Micro syndrome in a girl from a consanguineous Turkish family presenting with congenital cataracts, @DISEASE$, absent visually evoked potentials, @PHENOTYPICFEATURE$, polymicrogyria, hypoplasia of the corpus callosum, and severe developmental delay.	false
+2d6af3173a44bfc54e466ee63064fba2c6da5b86	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	has_symptom
+3d33c142bd89b42960c0ed54f395b5a114dcb77f	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, @DISEASE$, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+c1509c46242880d26e69f3864334910d9e8a578c	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+5347c013df3af493d835011c8a84b914b62c8710	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital cataract, microcornea, @DISEASE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+1c43e577fb847530ffa23e0d868fc499e597ddc0	Micro syndrome is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+75f96ffc549f005410c9b5ba7e16c4c8206714df	@DISEASE$ is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+0de8e31494f2a2f471de6d9021eb556068cb73b8	@DISEASE$ is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+a61d2cc3fb4882994c2716330ec5e35e652aa45e	Micro syndrome is an autosomal recessive disorder characterized by severe @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, @DISEASE$, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+825a9ae97949212d72819e43e7d056c6fb04c720	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and @PHENOTYPICFEATURE$.	false
+59c6568e3bee83cb34b9d566287994b8f87e0b70	Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, @PHENOTYPICFEATURE$, congenital @DISEASE$, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism.	false
+5c9cbbb528fd5fc61168979ecb98f086d9af7ec5	@DISEASE$ and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, @PHENOTYPICFEATURE$, postnatal microcephaly, and developmental delay.	has_symptom
+95fe5b5e9c3a1635aa84e7c8fd532ee24a4078df	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	has_symptom
+c61bcefd75433d62263ac288ed50930bb533a7cd	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @DISEASE$, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+9c442c423a6bdd8cc0bfbcb6a0d5629abea4f8c8	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+82da890baf4cef482bed332293122a8df7107f3e	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital @DISEASE$, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+6316cd6bc3d6b77c117e70f21d1b922568eb56f2	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+61ed603255b1baf22a886a4b667c3b91c4362665	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and @DISEASE$.	false
+06d73ea18533316cbc81a7c25a55a5bc61281513	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+6c2728ab25fe88312c6fdcdeb18f4214e149409c	Warburg-Micro syndrome (WARBM) is an autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+3aca0cedec8ec04b20a8b8efede7efec90b1bf9f	Warburg-Micro syndrome (WARBM) is an autosomal recessive @DISEASE$ characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	false
+d8f27f5809b19bfee163a3fdba7bc081d32ed410	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+dc55a898ba9051435a047013fbcb35dc0c6c20fe	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital @DISEASE$, optic atrophy and central nervous system malformations.	false
+f69fea7ced264bc9e9e980ac7958b67aa72b2faf	@DISEASE$ is a rare condition in which congenital cataracts, @PHENOTYPICFEATURE$, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	has_symptom
+97fe00c09373a0733aecc68909298e6eb159ae7e	Micro syndrome is a rare condition in which congenital cataracts, @DISEASE$, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+0d221eb6feb2d17307c2f19e573b9e9ecbfe75d8	Micro syndrome is a rare condition in which congenital @DISEASE$, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+bc45c708cc3fc71ee672cc854712dde1257b31c5	@DISEASE$ is a rare condition in which congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+8ed1d1e9f3cb19c3341988df9a31ddefdbdfeae0	Micro syndrome is a rare condition in which congenital @DISEASE$, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+0e2efc4db7276af904d926648436fd2d32f030f3	Micro syndrome is a rare condition in which congenital cataracts, @DISEASE$, and facial dysmorphism are associated with severe neurological disorders, namely: @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+701a0944bb25bf9d0ade7a32cce022a0044516c4	Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe @DISEASE$, namely: @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+bd0d0090d58f8f7883a4a2002a28b7435589c119	Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe @DISEASE$, namely: microcephaly and psychomotor retardation.	false
+2b17e2d11e44de3497e2f6eb1c304d3444e0fdeb	@DISEASE$ is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+636b90bdde590c31d691a62271ad409acf54eb23	Congenital cataract, @PHENOTYPICFEATURE$, hypoplasia of corpus callosum and hypogenitalism: report and review of @DISEASE$.	has_symptom
+918e53496fcadb5d6381ff62524a65c7153d0a39	Congenital cataract, @DISEASE$, hypoplasia of corpus callosum and @PHENOTYPICFEATURE$: report and review of Micro syndrome.	false
+294fa9b4e2036803e091a626c3e5d8aecd52d900	Congenital cataract, microphthalmia, hypoplasia of corpus callosum and @PHENOTYPICFEATURE$: report and review of @DISEASE$.	false
+7d2e69b98efb6c0c3c094b80dd3c704e9dbc92cc	Congenital @DISEASE$, microphthalmia, hypoplasia of corpus callosum and @PHENOTYPICFEATURE$: report and review of Micro syndrome.	false
+3080fd7dd79447027b77c5e6b1bc44158cb57f8a	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	has_symptom
+3e39c8ed814dfe6f9b043a8c9a00e901a6b99419	Microcephaly, microphthalmia, congenital cataract, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	false
+c99cf0466f660adb6743f0be0e7e7a0771a834bc	Microcephaly, @DISEASE$, congenital cataract, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+1eead4c408e39011ed1e9b403be348d847033695	Microcephaly, microphthalmia, congenital cataract, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and @DISEASE$: a second family with micro syndrome or a new syndrome?	false
+eb72b3c93bd2e5c20ead4d57338197b1cd84f36d	Microcephaly, microphthalmia, congenital @DISEASE$, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+03a1076208a5b7bf251de9e618b17569699b84e9	Microcephaly, @DISEASE$, congenital cataract, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+5353c4eb31e7e6edae66a88e2a53c5e337c984f2	Microcephaly, microphthalmia, congenital @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+6b8f5d8bea4b05724a516040bdef6273f5174612	Microcephaly, microphthalmia, congenital cataract, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	false
+45b9de7c76516027e49c69118f1efbfeb3c9615d	Microcephaly, microphthalmia, congenital cataract, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and @DISEASE$: a second family with micro syndrome or a new syndrome?	false
+47853bb66d8dd0e9929e95f74b34629195e3ab34	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, @PHENOTYPICFEATURE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	has_symptom
+82b8398b686ce781b0b19165f854c05a3f45a99d	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+2eba423a4026bbf7d8a9c45607d10309899f9ecf	The characteristics of Micro syndrome are @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, @DISEASE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+541afed7b676940352dccdfcd62166a716f299e4	The characteristics of Micro syndrome are mental retardation, microcephaly, congenital cataract, microcornea, @DISEASE$, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+c71da9e69642b6e17d5c4b7dd5b0bb624fe254e6	The characteristics of Micro syndrome are @PHENOTYPICFEATURE$, microcephaly, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+30b9dca391773bff5d091c5dfd97405d491f4c4c	The characteristics of @DISEASE$ are mental retardation, @PHENOTYPICFEATURE$, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+2b805382a8c5f37c63436550cea76789f3cbaf49	The characteristics of Micro syndrome are mental retardation, @PHENOTYPICFEATURE$, congenital @DISEASE$, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+ea8d68ea2914f7cb5e02a4fa33e7e72253416998	The characteristics of Micro syndrome are mental retardation, @PHENOTYPICFEATURE$, congenital cataract, microcornea, @DISEASE$, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+430b26da5e09398b5a950295c3308223a63cb6fb	The characteristics of @DISEASE$ are @PHENOTYPICFEATURE$, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	false
+c4606547de20a0ad2b5ef246a5f2719ede3ea581	The characteristics of @DISEASE$ are mental retardation, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+a6cc88b9ca12149e452753d261ccd644abb182ac	Besides a variety of other features, @DISEASE$ is characterized by a range of @PHENOTYPICFEATURE$ known as dysostosis multiplex.	has_symptom
+4349967a6b1ef83b2f60b4bdcde27f5bfc53aad1	Our demonstration of impairment of BMP-4 signaling by GAGs in multipotent stem cells in human Hurler syndrome identifies a mechanism that might contribute to the progressive neurological and @PHENOTYPICFEATURE$ in @DISEASE$ and related mucopolysaccharidoses.	has_symptom
+aaac06627776af1f47ef203e34a06c34b1adb864	Our demonstration of impairment of BMP-4 signaling by GAGs in multipotent stem cells in human @DISEASE$ identifies a mechanism that might contribute to the progressive neurological and @PHENOTYPICFEATURE$ in Hurler syndrome and related mucopolysaccharidoses.	has_symptom
+209344bc961fb1c4125cc4cccb6c81dad085d715	A child with phenotypic features of the @DISEASE$, including metopic craniosynostosis, small ears, abdominal wall defect, and @PHENOTYPICFEATURE$, as well as hypopigmentation, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father.	has_symptom
+e494f3e25dfa61fbdfb7ac8c0d896a45513b6938	A child with phenotypic features of the @DISEASE$, including metopic craniosynostosis, small ears, abdominal wall defect, and mental retardation, as well as @PHENOTYPICFEATURE$, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father.	false
+4b7cba6c5f65222a5fb194c940786072f52ffd62	A child with phenotypic features of the 9p- syndrome, including metopic craniosynostosis, small ears, abdominal wall defect, and @DISEASE$, as well as @PHENOTYPICFEATURE$, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father.	false
+06a37d203450afb3a1813a448453ed73be657af5	A child with phenotypic features of the 9p- syndrome, including metopic @DISEASE$, small ears, abdominal wall defect, and mental retardation, as well as @PHENOTYPICFEATURE$, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father.	false
+f776ece2bef36a562a144f0813bcc3ae89175830	Despite variation in size of the 9p duplications, trisomy @DISEASE$ is characterized by typical dysmorphic features and a variable but constant psychomotor and @PHENOTYPICFEATURE$.	has_symptom
+a104e3fa13c1e2831df3ada739a14f04b4dd5976	The distal region on the short arm of chromosome 9 is of special interest for scientists interested in sex development as well as in the clinical phenotype of patients with the @DISEASE$, characterized by @PHENOTYPICFEATURE$, trigonocephaly and other dysmorphic features.	has_symptom
+5245750a2d002d3d516037aec2c5b03f482ceadf	Monosomy 9p syndrome, also known as @DISEASE$, has been described as a contiguous syndrome characterized by @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphisms.	has_symptom
+35c34370e6fbbbd63b37d07e75e557ebac1c5b4a	@DISEASE$, also known as Alfi syndrome, has been described as a contiguous syndrome characterized by @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphisms.	has_symptom
+2e923da662ab7d8582975a9384ab5e3ff414cf0f	We report two similarly affected cousins (children of monozygotic twin sisters) with phenotypic features consistent with @DISEASE$, including dysmorphic craniofacial features (trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures and long philtrum), @PHENOTYPICFEATURE$ and disorders of sex development.	has_symptom
+4aeaff57c7001e53a27bffb5d11d8d839c7ef4ab	Clinical manifestation included craniofacial abnormalities typical for trisomy @DISEASE$, developmental delay, @PHENOTYPICFEATURE$ and brain anomaly in the form of Dandy-Walker malformation.	has_symptom
+5b73fccd73f1d06929c5380b19b50cee33a28f79	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, @PHENOTYPICFEATURE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	has_symptom
+b91ff6867c38e11e0f701d4121ac3253b6c50dba	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, @DISEASE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+14ff6ce146a4eee1dc8caca048e43b1fd2432800	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+da9a5b7ec6f28cc74d3f2e92c90cf258d58c798a	The Simpson-Golabi-Behmel syndrome (SGBS) is an @PHENOTYPICFEATURE$ condition characterised by macrosomia, mental deficiency, @DISEASE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+d57b087b44e701ca46a7cc699bf2ff65305912fe	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, @PHENOTYPICFEATURE$, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+de30b8ceef52f08066869b68f3b875e09f126089	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, @DISEASE$, prominent skull sutures, midface deficiency, @PHENOTYPICFEATURE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+ed334f708bb5933e1f6b5318779f0e246484a1a3	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, @PHENOTYPICFEATURE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+d99aff2d23c3430d2f3166c72bd1154875e93207	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, @PHENOTYPICFEATURE$, @DISEASE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+3034f08e66ec8cd873fdd297d8cbe93839ff2f93	The @DISEASE$ (SGBS) is an @PHENOTYPICFEATURE$ condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+57583546aef7475a07e798329125100278a94e18	@DISEASE$ is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, and organomegaly.	has_symptom
+7d41d0dd372cea3fcd5362c4a0232791a7d3e2c9	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, @PHENOTYPICFEATURE$, pre/postnatal overgrowth, distinctive craniofacial features, @DISEASE$, and organomegaly.	false
+c20cd79907b1e025e8cd94d6f95020dac3ba3463	Simpson-Golabi-Behmel syndrome is a rare @DISEASE$ caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, @PHENOTYPICFEATURE$, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+728a2f9feea6f363ddc9708a6abcfd5912465a3f	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, @DISEASE$, and organomegaly.	false
+c1e3d962cfe273d340020b95cbe6102d2de5d217	@DISEASE$ is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, @PHENOTYPICFEATURE$, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+5a11a78e047add17c799f5f6df8f302cd6008910	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple @DISEASE$, @PHENOTYPICFEATURE$, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+280e35b00f73fccf355bb8e7986df108ee1df06b	Simpson-Golabi-Behmel syndrome is a rare @DISEASE$ caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+05d104a0a5492dd69dc9eb5e3257c01ffeccc947	Simpson-Golabi-Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple @DISEASE$, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+41986bdcca8becb0dd6692efb9c215395af965ba	@DISEASE$ is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+2b7448687d7e77406b36fe1b549a9cc26417dcaf	@DISEASE$ (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, @PHENOTYPICFEATURE$, congenital heart defects and genitourinary anomalies.	has_symptom
+6214d2363c9d163ab3448bc65e512d52df335530	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$ and genitourinary anomalies.	false
+c645835a03df7455ff63a7934e9a897a4d1e9784	@DISEASE$ (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal @PHENOTYPICFEATURE$ and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies.	false
+fbf1e5b5af3757fa5cca1de2665615848fef789c	@DISEASE$ (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, @PHENOTYPICFEATURE$ and genitourinary anomalies.	false
+3d1bcd38109a0af526e1a63c65c658b75430b0c0	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal @PHENOTYPICFEATURE$ and a variety of additional anomalies including craniofacial dysmorphism, @DISEASE$, congenital heart defects and genitourinary anomalies.	false
+6bc4624b98a1185e86e655622b1d2248203151c1	@DISEASE$ (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	has_symptom
+053ab8822a9ce72bc0b03b78bf2118a17bb5b21d	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple @DISEASE$/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+95566594b668493a5d1a7b2164f2c8bfdf555263	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/@PHENOTYPICFEATURE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable @DISEASE$, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+e41bb9b7e2cbf07d4692a08f23462c3aa2feee28	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/@PHENOTYPICFEATURE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @DISEASE$, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+436e9516dcb19f986505e0ed06ee728996a8b57e	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/@PHENOTYPICFEATURE$ @DISEASE$ characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+e2d691bf069690ed18621edb67fdc83f816f972f	@DISEASE$ (SGBS) is a rare X-linked multiple congenital abnormality/@PHENOTYPICFEATURE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+e128d4b1ab22e475f8d73724bab1664eeea9d9c8	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable @DISEASE$, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+179a28c97e34f0425cdafb721c42517fcae5b483	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability @DISEASE$ characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+3582e521735123c11cec9906d9c4959a78df9e86	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, @DISEASE$, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+be2e1535b49fa29b9f7812cbf0c93c3a0ac04f79	@DISEASE$ (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of @PHENOTYPICFEATURE$ and mild/moderate intellectual deficiency.	false
+d643be3b380886fbfabfc0aacb34e693385a6896	Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.	false
+470ddcb76af43f992acdedcffc4c8200e35b6cb6	@DISEASE$ (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, @PHENOTYPICFEATURE$, and organomegaly.	has_symptom
+3301f3d7ca17f70e48239f1286e9027ca0d696e9	Simpson-Golabi-Behmel syndrome (SGBS) is a rare @DISEASE$ clinically characterized by multiple congenital abnormalities, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+9afd8fc8cb8050cee5df7036f16c63b861153c6d	@DISEASE$ (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+e2a7491a991f59e02981b7ca83e02af666356194	Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, @DISEASE$, and organomegaly.	false
+5c082a8136c1af75f460de9c360588b8e45624ea	Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple @DISEASE$, pre/postnatal @PHENOTYPICFEATURE$, distinctive craniofacial features, macrocephaly, and organomegaly.	false
+61ae95ba57d61514897bd2a07857ea02b5f3e4f9	These signs are @DISEASE$, @PHENOTYPICFEATURE$, obesity, and hypogonadism.	has_symptom
+d3c88a493b9fbc3d483c22f43be80ecbb0cb81fb	These signs are @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and hypogonadism.	false
+205aee56b0e8556068de16833108e7d16d543e3c	These signs are retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+6dd1f36370510b377358a346cd2068104368c3f8	These signs are retinitis pigmentosa, mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8a373e373ca8f288ec66a47982a69624f22b15fa	Progressive quadriparesis, @PHENOTYPICFEATURE$, @DISEASE$, and hearing loss: report of two sibs.	has_symptom
+748a2e1f1c5174330f646cf20ca6e0589b9e2a7b	@DISEASE$, @PHENOTYPICFEATURE$, marked short stature, and brachydactyly in two sibs.	has_symptom
+e16df071fb316513918286616a3bc10159aa9da2	Retinitis pigmentosa, @DISEASE$, marked short stature, and @PHENOTYPICFEATURE$ in two sibs.	false
+57d6c742ec2bb6e47db2193e95a37bfd91e6696b	Retinitis pigmentosa, @DISEASE$, marked @PHENOTYPICFEATURE$, and brachydactyly in two sibs.	false
+5aa9f9716dae189d9db4fac6138145c51aeb83ba	@DISEASE$, mental retardation, marked @PHENOTYPICFEATURE$, and brachydactyly in two sibs.	false
+c7cd8589c45a4f0a78bdaff1b1e4ce7c798d0bb8	@DISEASE$, mental retardation, marked short stature, and @PHENOTYPICFEATURE$ in two sibs.	false
+9215c53086c2140cbd26be30cdee0fe01a5f4fa6	Rud syndrome: congenital ichthyosis, hypogonadism, @PHENOTYPICFEATURE$, @DISEASE$ and hypertrophic polyneuropathy.	has_symptom
+308b38fb5292e1b9d722a5b08f4a6ab51f245244	Three siblings with @DISEASE$, deafness and @PHENOTYPICFEATURE$ were studied.	has_symptom
+82b4f585ec80d60e3931d4a0ad5f26f9d13f4470	Three siblings with retinitis pigmentosa, @PHENOTYPICFEATURE$ and @DISEASE$ were studied.	false
+d10aab73faf4bbe45bdeed22303e57f39b3d3463	Three siblings with @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation were studied.	false
+f4e202fbcefa507864af3c46607621c69d078455	poly or syndactyly, @PHENOTYPICFEATURE$, obesity, hypogenitalism and @DISEASE$.	has_symptom
+4685e0f1bd87a5a5c82194467b268c123dfe179e	poly or syndactyly, mental retardation, @PHENOTYPICFEATURE$, hypogenitalism and @DISEASE$.	false
+c106f3270dd691958e3f2dcdc248f7d64bbb3e0c	poly or @PHENOTYPICFEATURE$, mental retardation, obesity, hypogenitalism and @DISEASE$.	false
+83c5adc8cb8b0da913ffc4ecf872e045d030c05b	poly or @PHENOTYPICFEATURE$, @DISEASE$, obesity, hypogenitalism and retinitis pigmentosa.	false
+12a0578c9e1f5bc19d1c94495e587170c5b292d4	poly or syndactyly, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism and retinitis pigmentosa.	false
+916b9d28884b065be024bec84fda0f507e8640a3	[Hemiatrophy, @PHENOTYPICFEATURE$, @DISEASE$, vestibular disfunctions, myopathy].	has_symptom
+25cd18c090caf542952d623f944f1b2e0c85bd8a	Affected males presented with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly and @DISEASE$.	has_symptom
+0a64ac165a69f2ca75daede43466a0dd903a36d8	[Syndrome of dystonia musculorum deformans with @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+abeb71b3095a20d0fbbe9796dda9d80a4271a05b	[Diabetes insipidus, spastic paraplegia, dwarfism, @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+d5deeb8c2afc82a2951fcc0df24a3f76f10dfc4a	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of @DISEASE$ include relative bradycardia, mental confusion/ encephalopathy, loose stools/diarrhea, @PHENOTYPICFEATURE$, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	has_symptom
+cbea8c845e9191b5784e8e4738c134d89c2750d2	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of @DISEASE$ include relative bradycardia, mental confusion/ @PHENOTYPICFEATURE$, loose stools/diarrhea, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+0685796f654b9da210d9b9668fb30556948cfab0	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of Legionnaires' disease include relative bradycardia, mental confusion/ @PHENOTYPICFEATURE$, loose stools/@DISEASE$, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+242ba554ad2621f8ab7d0ea2f59f0fb62eb5e3e7	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of Legionnaires' disease include relative bradycardia, mental confusion/ @PHENOTYPICFEATURE$, loose stools/diarrhea, @DISEASE$, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+b7a3f2314ef132501e139af5559f8dd91b29bc18	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of @DISEASE$ include relative bradycardia, mental @PHENOTYPICFEATURE$/ encephalopathy, loose stools/diarrhea, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+1e805a6fe41c464b91490721e3e06ac87fc76e01	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of Legionnaires' disease include relative bradycardia, mental @PHENOTYPICFEATURE$/ encephalopathy, loose stools/diarrhea, @DISEASE$, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+30c3abcf4d64107e1ad917a0c84122946289f526	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of Legionnaires' disease include relative bradycardia, mental @PHENOTYPICFEATURE$/ encephalopathy, loose stools/@DISEASE$, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+01fa8b96943cb894ad745b1c4abf24d658ec759b	@PHENOTYPICFEATURE$ and REP-1 gene mutations in Japanese @DISEASE$ patients.	has_symptom
+a68d27f38624bc4a17f88495d04b556faf561f7d	Citrin deficiency causes neonatal @DISEASE$ (NICCD), @PHENOTYPICFEATURE$ and dyslipidemia (FTTDCD), and adult-onset type II citrullinemia (CTLN2).	has_symptom
+62c059a8bce2a9416467cf429dc545fc15e2a310	We coin the acronym @DISEASE$ (Glaucoma, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	has_symptom
+c468750ac28090409ad536fd131dca6351a23dc4	We coin the acronym GEMSS syndrome (@DISEASE$, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+37e8949b2a4a71141dab57c57d57f0e4f2c66aad	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like @DISEASE$ from the classic, recessively inherited syndrome.	false
+0574a1918d1eb71fbcc05d5df5980774cae14797	We coin the acronym @DISEASE$ (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+c683258a78e8bdc923128592033057368223c993	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, @DISEASE$, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+353be127f987c78d4376036aa5912f2196076c9f	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited @DISEASE$.	false
+da6f95e89dac4327992fd639c6145e8596621efc	The deletion found in the present patient confirms that candidate region of @DISEASE$-@PHENOTYPICFEATURE$ (OMIM 220600) maps to 7q21 and suggests new candidate genes for that disorder.	has_symptom
+1470ccfc6ccbf1b14ddd88b7b8e3aa182df826c1	@PHENOTYPICFEATURE$ is common, severe, and difficult to manage in @DISEASE$.	has_symptom
+c56e4d0cd357d41920a60316383387f113b39dec	Behavioural therapy should be tried in all with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1a52b4269b4b8d99e9be6380c51374fb195978fc	@DISEASE$ is a neurodegenerative lysosomal storage disorder characterized by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+2e788418ad05d1321e411eeb186617ada0a99dac	@DISEASE$ (MPS IIIA) is an inherited neurodegenerative lysosomal storage disorder characterised by progressive loss of learned skills, @PHENOTYPICFEATURE$ and behavioural problems.	has_symptom
+d29e78836e43737a6168b4a6f105aa93a522c4b2	A total of 141 responses were received; 91.5% of children with @DISEASE$ had @PHENOTYPICFEATURE$ and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used.	has_symptom
+37df03f9c063b82ae3a6124f2f590cbd930109e2	Right atrial myxoma can simulate nonspecific constitutional symptoms, such as remittent or lasting fever, @PHENOTYPICFEATURE$, and chronic anemia, and may escape timely diagnosis until the development of severe complications such as pulmonary hypertension due to embolism from fragments originating from the tumor mass or blockage of the right atrioventricular ostium or @DISEASE$ with acute abdominal pain.	has_symptom
+72b322779e9387e78b81daa07b920357dde73490	Right atrial myxoma can simulate nonspecific constitutional symptoms, such as remittent or lasting fever, weight loss, and chronic @DISEASE$, and may escape timely diagnosis until the development of severe complications such as pulmonary hypertension due to embolism from fragments originating from the @PHENOTYPICFEATURE$ mass or blockage of the right atrioventricular ostium or Budd-Chiari syndrome with acute abdominal pain.	false
+4823989f0269016e55eb8966ebb50574468b4e38	Right atrial myxoma can simulate nonspecific constitutional symptoms, such as remittent or lasting fever, @DISEASE$, and chronic anemia, and may escape timely diagnosis until the development of severe complications such as pulmonary hypertension due to embolism from fragments originating from the @PHENOTYPICFEATURE$ mass or blockage of the right atrioventricular ostium or Budd-Chiari syndrome with acute abdominal pain.	false
+414c72636968cadb299233f873d3c9f3baa42bb7	Right atrial myxoma can simulate nonspecific constitutional symptoms, such as remittent or lasting fever, weight loss, and chronic anemia, and may escape timely diagnosis until the development of severe complications such as pulmonary hypertension due to embolism from fragments originating from the @PHENOTYPICFEATURE$ mass or blockage of the right atrioventricular ostium or @DISEASE$ with acute abdominal pain.	false
+3d1434ad92594a884c495063a12a57f281e9bf0b	This study seeks to validate the use of activity monitors to detect and record @PHENOTYPICFEATURE$, potentially identifying patients with idiopathic @DISEASE$ (iNPH) prior to the onset of cognitive or urinary symptoms.	has_symptom
+f51dfc4fc4b53751e6d3cab0ea29e12f08ef32d0	Generally, the diagnosis of idiopathic @DISEASE$ (NPH) is raised in elderly patients with an association of @PHENOTYPICFEATURE$, cognitive impairment, urinary incontinence and widening of the ventricles.	has_symptom
+c7d47e024c7872255f026b3c75e696ebb9c29392	Generally, the diagnosis of idiopathic normal pressure hydrocephalus (NPH) is raised in elderly patients with an association of @DISEASE$, @PHENOTYPICFEATURE$, urinary incontinence and widening of the ventricles.	false
+13ac2586b3f773d550bc79db804235c5aa413ee2	Generally, the diagnosis of idiopathic @DISEASE$ (NPH) is raised in elderly patients with an association of gait disturbances, @PHENOTYPICFEATURE$, urinary incontinence and widening of the ventricles.	false
+73bf922520a0de21ef37882826fc09b0f7656c32	Imaging studies should be obtained selectively in patients with signs and symptoms, such as focal neurological findings and @PHENOTYPICFEATURE$, which are suggestive of structural lesions: stroke, subdural haematoma, @DISEASE$ and brain tumours.	has_symptom
+a6d96036293f1155bf6a30551964c3b81e311edd	The histopathologic features of these temporal bones appears to suggest that congenital anomalies of the inner ear, as well as those of the external and middle ears, would be possible causes of the @PHENOTYPICFEATURE$ that accompanies @DISEASE$ syndrome.	has_symptom
+6aa6c04007374b40673f16b1a9b84cacb9b4aa8e	We describe a 56-year-old woman suspected of @DISEASE$ on the basis of the following clinical findings: microcephaly, short stature, @PHENOTYPICFEATURE$, and the clinical findings in her deceased brother.	has_symptom
+a494359acbe396f3ad14f4ec6fbc803fad9da922	We describe a 56-year-old woman suspected of @DISEASE$ on the basis of the following clinical findings: microcephaly, @PHENOTYPICFEATURE$, congenital deafness, and the clinical findings in her deceased brother.	false
+00f96eeb6da95249739c64c02cd467605ea5d659	We describe a 56-year-old woman suspected of @DISEASE$ on the basis of the following clinical findings: @PHENOTYPICFEATURE$, short stature, congenital deafness, and the clinical findings in her deceased brother.	false
+a60b78f4e2bfc265a8672242cca0d94fc633f5b1	We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and the clinical findings in her deceased brother.	false
+e6fac56aac01204c53f9be34da510907663c78cf	We describe a 56-year-old woman suspected of Fanconi anemia on the basis of the following clinical findings: @PHENOTYPICFEATURE$, short stature, @DISEASE$, and the clinical findings in her deceased brother.	false
+03ea0622c7ff1c64b3cbd0dd5904972aa3514beb	The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), @PHENOTYPICFEATURE$ (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), @DISEASE$ (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1).	has_symptom
+98e9be795630eff9eacfef33ec160305a278783d	profound mental retardation, @DISEASE$, ponto-cerebellar hypoplasia and progressive @PHENOTYPICFEATURE$); (ii) optic nerve atrophy and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	has_symptom
+2a9548358dad31200fc73be772bddcc7d1f47b4d	profound mental retardation, spastic quadriplegia, ponto-@PHENOTYPICFEATURE$ and progressive cerebral atrophy); (ii) optic nerve atrophy and (iii) mild secondary @DISEASE$ detected by muscle biopsy and respiratory chain enzyme analysis.	false
+83ad597db11143bf7cd045ec65c3ea73d58dca7e	profound mental retardation, @DISEASE$, ponto-@PHENOTYPICFEATURE$ and progressive cerebral atrophy); (ii) optic nerve atrophy and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	false
+2683bb1deedd3aa2b472572218a254614eded8ee	profound mental retardation, @DISEASE$, ponto-cerebellar hypoplasia and progressive cerebral atrophy); (ii) @PHENOTYPICFEATURE$ and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	false
+51fd003d3209d4da247395d7ee35833e38e047f1	profound mental retardation, spastic quadriplegia, ponto-cerebellar hypoplasia and progressive cerebral atrophy); (ii) @PHENOTYPICFEATURE$ and (iii) mild secondary @DISEASE$ detected by muscle biopsy and respiratory chain enzyme analysis.	false
+57ab5c3e0c61b9b4be06cb4b88629daaab79725d	profound mental retardation, spastic quadriplegia, ponto-@PHENOTYPICFEATURE$ and progressive @DISEASE$); (ii) optic nerve atrophy and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	false
+157402a1a58e8c83d7577b26d45132f5953f5fc8	profound mental retardation, spastic quadriplegia, ponto-cerebellar hypoplasia and progressive @DISEASE$); (ii) @PHENOTYPICFEATURE$ and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	false
+d4f837af62b30f75da1bce588d410e05fa886554	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, microcephaly, short stature, failure to thrive, @PHENOTYPICFEATURE$, and periventricular white matter abnormalities.	has_symptom
+a79387a0aa489ff8f96309cfbd8a74be32719517	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, @PHENOTYPICFEATURE$, failure to thrive, @DISEASE$, and periventricular white matter abnormalities.	false
+d90fe2773e88431963ba0dec28489398ddc8b810	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, microcephaly, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and periventricular white matter abnormalities.	false
+17d30b784cbbd61011708af2c8fb3a5b24fcf77a	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, microcephaly, @PHENOTYPICFEATURE$, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities.	false
+df8097e525ef06e7371c3d38b48ea6ea5d6a9c4e	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, microcephaly, short stature, @PHENOTYPICFEATURE$, cerebral atrophy, and periventricular white matter abnormalities.	false
+1be4e634602015dfc3e37a1dd97b3f099c103353	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities.	false
+04db0085d1c8241ddb1eea4dfe025f817e76616c	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, microcephaly, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities.	false
+c02844562323bb4b909fd0c3c2c15dc0f9b23ad6	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound @PHENOTYPICFEATURE$, spastic quadriplegia, epilepsy, microcephaly, short stature, failure to thrive, @DISEASE$, and periventricular white matter abnormalities.	false
+e82bbd0cad49dca034d2bf72bf640f27eaed50a0	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, spastic quadriplegia, epilepsy, @PHENOTYPICFEATURE$, short stature, failure to thrive, @DISEASE$, and periventricular white matter abnormalities.	false
+2f59d8a2f3fd2edc8aea87d0d5a3c8126f9461b1	@PHENOTYPICFEATURE$ simulating facioscapulohumeral muscular dystrophy with particular reference to the heterogeneity of @DISEASE$.	has_symptom
+d2565285146c90f06008ed103091d8afb88294ba	[Hereditary proximal @PHENOTYPICFEATURE$ (Wohlfart-@DISEASE$).	has_symptom
+9cc870d5378cdb4ea12adcb332574167a1f4e20d	[A case of Wohlfart-@DISEASE$ or hereditary familial spinal juvenile @PHENOTYPICFEATURE$].	has_symptom
+8411ca523b05980a8ee2db86ed8172ff300d9a35	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	has_symptom
+96c956e64d6a98210bf86d73a3b767421192d5f7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+9cf336e07052cf48f850fefdbaa3e190458aef65	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+defcd9ddc76949a24b804a03d9004a052b3cf301	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+8c83c7a25ca7a7e133fe1b626ae54e092145278d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+0f8886c3a45621fb9dca49c158c619947c6e5060	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+d3c0a7732874633134a1ea0f41961482c5c387c2	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+4cb9b94312b680e15a25687b54fdcbf2351f421c	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+e95e16c8f1922381bb3cd426b736173ba9ab0eb7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+68460679d61838936dfa814410150d92d746962d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @DISEASE$ (CHDs), and radial ray defects.	false
+3463fca8a6df37328346282ae7884d9e3a0bdeb4	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+ea65c765f6586e19134bc44241f7d8e16ea4173a	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), @DISEASE$ (CHDs), and radial ray defects.	false
+9e8d886b49344041acdca5d49b9b0d69498bbded	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+953d0632094e4f494f2559c77dc9727ec75356e5	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+476b9c98991c5d6f3b26ca4c8bf13ec41498905d	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), @DISEASE$ (CHDs), and radial ray defects.	false
+149ec09649de23dbfed527f1dc324bb8f4f76648	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+a3dc7caa47f7101396d156911c0d181b6ff8f8b7	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+fb73335af051dff7ea0913c9bef45f4a0b58d78a	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+83521e40ca71e7ed7c2cfdc99207aebbf8a17625	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of @DISEASE$ (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+94054111337bf7c055e09d0c43983dc8f15aa1e0	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, @PHENOTYPICFEATURE$, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+652aabe68dfe8a906aef53e986ff66de45e30456	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, @PHENOTYPICFEATURE$, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+d75a36a46ba1583f725a6b66daa42a0484e083d1	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+26bb65abb58cd8853f25e6814cc70ca61d4057ca	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, @DISEASE$, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+4db35f40ce12659e926bbce938cfd6118a1adb42	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @DISEASE$ (CHDs), and radial ray defects.	false
+40a1887773095632466499076eae22d78e674265	Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation @DISEASE$ characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, @PHENOTYPICFEATURE$, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects.	false
+2b8f1a080739ef69cb818d3267f33a5699ab6b3c	@DISEASE$ with multiple @PHENOTYPICFEATURE$ after paroxetine exposure: case report.	has_symptom
+c0a8400c68aa0846e2f77121bf93ffba5b12d58c	This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple @PHENOTYPICFEATURE$ associated to typical physical characteristics of @DISEASE$.	has_symptom
+950eaf31ccb5f25db1e45413ab810958ae54b07c	Forty-five children with craniofacial deformities were classified as having the following: craniosynostosis; craniofacial microsomia; @DISEASE$ (TCS); coloboma of the eye, @PHENOTYPICFEATURE$, atresia choanae, retarded growth and/or development, genital and/or urinary abnormalities, ear abnormalities and deafness (CHARGE) syndrome; frontoethmoidal encephalomeningocele; Pierre Robin sequence; and craniofacial cleft.	has_symptom
+dfdbae9745a70d26e091bfce90722d233ce340cd	Forty-five children with craniofacial deformities were classified as having the following: craniosynostosis; craniofacial microsomia; Treacher-Collins syndrome (TCS); coloboma of the eye, heart defects, atresia choanae, retarded growth and/or development, genital and/or urinary abnormalities, ear abnormalities and @PHENOTYPICFEATURE$ (CHARGE) syndrome; frontoethmoidal encephalomeningocele; Pierre Robin sequence; and @DISEASE$.	false
+9a30d40702b9e97db1921836322671ccc5c4ee24	Forty-five children with craniofacial deformities were classified as having the following: craniosynostosis; craniofacial microsomia; Treacher-Collins syndrome (TCS); coloboma of the eye, @DISEASE$, atresia choanae, retarded growth and/or development, genital and/or urinary abnormalities, ear abnormalities and @PHENOTYPICFEATURE$ (CHARGE) syndrome; frontoethmoidal encephalomeningocele; Pierre Robin sequence; and craniofacial cleft.	false
+c20cc6037dfba3260e17333ef139d3007a5301b5	Forty-five children with craniofacial deformities were classified as having the following: craniosynostosis; craniofacial microsomia; Treacher-Collins syndrome (TCS); @DISEASE$, heart defects, atresia choanae, retarded growth and/or development, genital and/or urinary abnormalities, ear abnormalities and @PHENOTYPICFEATURE$ (CHARGE) syndrome; frontoethmoidal encephalomeningocele; Pierre Robin sequence; and craniofacial cleft.	false
+309bd233705fac373f5dfe7ec2db63cf7c5bcb8b	Forty-five children with craniofacial deformities were classified as having the following: craniosynostosis; craniofacial microsomia; @DISEASE$ (TCS); coloboma of the eye, heart defects, atresia choanae, retarded growth and/or development, genital and/or urinary abnormalities, ear abnormalities and @PHENOTYPICFEATURE$ (CHARGE) syndrome; frontoethmoidal encephalomeningocele; Pierre Robin sequence; and craniofacial cleft.	false
+51c85ce6059fdcd669eea6c5207395af57cd731f	A new case of @DISEASE$ is presented in a 18 months old girl with typical clinical features of the syndrome: marked delay in psychomotor development, @PHENOTYPICFEATURE$, trigonocephaly, up-slanting palpebral fissures, short nose with anteverted nostrils, long philtrum, low-set and hypoplastic auricles and others.	has_symptom
+75e30b65a36876f5f70894c32e94465fc2b049f2	A residual risk of HCC persists in patients with advanced liver disease or with complications, such as @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+2168908df4543e5d2702ab0d7d57154f4eac6eeb	We report a 59-year-old male with Brucella peritonitis with cutaneous vasculitis and @PHENOTYPICFEATURE$ that could be related to @DISEASE$.	has_symptom
+70bc56c69f416fab20b1d9962736e2218bd1a654	@DISEASE$ (MC), the most common extrahepatic manifestation of HCV, may lead to renal involvement ranging from mild urinary abnormalities to nephritic syndrome, eventually evolving to @PHENOTYPICFEATURE$ requiring renal replacement therapy.	has_symptom
+3ffc5bcc89b561355d8d941b851144f83573533e	An 82-year-old woman with @DISEASE$ type II (IgM K IgG) presented with moderate @PHENOTYPICFEATURE$ and nephritic syndrome.	has_symptom
+cfcc53e67e84aef740ee8c4a0c3e11ba884c8326	@DISEASE$ with vasculitis and @PHENOTYPICFEATURE$ was documented by laboratory tests and renal biopsy.	has_symptom
+518926a8923d2eb5b69931114eb5c6c346bf6bfa	In addition, we performed a systematic analysis of cases reported to date through a MEDLINE search.The following organ involvements were considered to be potentially life-threatening in HCV patients with @DISEASE$: cryoglobulinemic, biopsy-proven glomerulonephritis presenting with @PHENOTYPICFEATURE$; gastrointestinal vasculitis; pulmonary hemorrhage; central nervous system (CNS) involvement; and myocardial involvement.	has_symptom
+96f9edf24fa270a12390c11bcec89a1d9e6074d2	The clinical and histological findings of a patient with mixed @DISEASE$ (MECG) who developed post partum @PHENOTYPICFEATURE$ and the nephrotic syndrome are described.	has_symptom
+e5cd99c900e7e18c47269dc5098dc565fa01bcd9	@DISEASE$ with @PHENOTYPICFEATURE$, cutaneous vasculitis and peritonitis due to Brucella melitensis.	has_symptom
+ac8bf22bad8c18c0b8d5874a63ca0e9a45f965f8	The tricho-rhino-phalangeal syndrome type II (@DISEASE$ II) is characterized by sparse scalp hair, a long nose with a bulbous tip, a long flat philtrum, cone-shaped epiphyses of the phalanges, @PHENOTYPICFEATURE$ in infancy and multiple cartilaginous exostoses.	has_symptom
+9536b130625422b1c751369d025abf2f9e760280	@DISEASE$ (CMT) is a clinically and @PHENOTYPICFEATURE$ condition characterized by peripheral axon degeneration with subsequent motor and sensory deficits.	has_symptom
+83ef6a59a4af4fa42c412cd6945e89b1f1d2dc5c	@DISEASE$ may be a prominent cause of childhood @PHENOTYPICFEATURE$ in our environment.	has_symptom
+9fb3632c0694442f00a77fc121c842dd90fe3770	@DISEASE$ is characterized by the triad of deafness, @PHENOTYPICFEATURE$ and cardiovascular malformations.	has_symptom
+aebc58d5ed971f86cbfb5efa731db4abad9195c6	Congenital rubella syndrome is characterized by the triad of @PHENOTYPICFEATURE$, @DISEASE$ and cardiovascular malformations.	false
+88a4e9c6be9fee3922651a9c9fb68edbc3fed244	@DISEASE$ is characterized by the triad of @PHENOTYPICFEATURE$, cataract and cardiovascular malformations.	false
+79f7ff513d3a96aa486d1ed2a4bbbf4b5c0c5f60	To evaluate visual outcome after @PHENOTYPICFEATURE$ surgery in children with congenital rubella syndrome (@DISEASE$).	has_symptom
+7c92c98451fcf9cf1da8f449a5613bcb8bc1def1	To evaluate visual outcome after @PHENOTYPICFEATURE$ surgery in children with @DISEASE$ (CRS).	has_symptom
+5b7263ee60b0ce2a418d399c95a565fcc5e99d62	The incidence of phthisis bulbas a complication of @PHENOTYPICFEATURE$ surgery in the @DISEASE$.	has_symptom
+f91b0beddeabef380b37feee8ab3b36e615c9641	A retrospective analysis was conducted on 40 eyes of 22 children with @DISEASE$ who underwent @PHENOTYPICFEATURE$ surgery.	has_symptom
+76581800200ff4e2014c97d626acb9bb1c17ffda	Congenital rubella syndrome (@DISEASE$) has long been characterized by the triad of deafness, @PHENOTYPICFEATURE$, and cardiovascular malformations (CVMs).	has_symptom
+33ab9bf2238209714ca167414fcd506448f650ea	@DISEASE$ (CRS) has long been characterized by the triad of deafness, @PHENOTYPICFEATURE$, and cardiovascular malformations (CVMs).	has_symptom
+598140490e28a304ca1aff63a5a918b404e93fe3	Congenital rubella syndrome (CRS) has long been characterized by the triad of @PHENOTYPICFEATURE$, @DISEASE$, and cardiovascular malformations (CVMs).	false
+2a90f7fc85f90d68cdc081597e29776919db73e1	@DISEASE$ (CRS) has long been characterized by the triad of @PHENOTYPICFEATURE$, cataract, and cardiovascular malformations (CVMs).	false
+4754eb7a6519251e81a35137343cfa5b16dad25e	Congenital rubella syndrome (@DISEASE$) has long been characterized by the triad of @PHENOTYPICFEATURE$, cataract, and cardiovascular malformations (CVMs).	false
+d842c1678aa41f68dda19f547d29a71ae2dba85a	Prevalence of glaucoma and @PHENOTYPICFEATURE$ morphology in @DISEASE$.	has_symptom
+290e3d40ac018fe39c886244f3b6914ae43014d8	@DISEASE$ (CRS) can lead to deafness, heart disease, and @PHENOTYPICFEATURE$, and a variety of other permanent manifestations.	has_symptom
+941a5f1944532eeb2425cd10734775d34f7bf019	Congenital rubella syndrome (@DISEASE$) can lead to deafness, heart disease, and @PHENOTYPICFEATURE$, and a variety of other permanent manifestations.	has_symptom
+cace4daa57e42a198403a6ec92ba69a2cd0a4f29	Congenital rubella syndrome (CRS) can lead to @PHENOTYPICFEATURE$, @DISEASE$, and cataracts, and a variety of other permanent manifestations.	false
+719824f08dcaea4918bd6542c504b8e059e2b022	Congenital rubella syndrome (@DISEASE$) can lead to @PHENOTYPICFEATURE$, heart disease, and cataracts, and a variety of other permanent manifestations.	false
+a4b465c91810404badd2e023f1affd0fc462fb89	Congenital rubella syndrome (CRS) can lead to @PHENOTYPICFEATURE$, heart disease, and @DISEASE$, and a variety of other permanent manifestations.	false
+6e8b067cf174d76118c314e916795102dea16f30	@DISEASE$ (CRS) can lead to @PHENOTYPICFEATURE$, heart disease, and cataracts, and a variety of other permanent manifestations.	false
+962faa358b932fe31dc9ca643147b56da51ba02f	Children with @DISEASE$ who had @PHENOTYPICFEATURE$ surgery were enrolled.	has_symptom
+2390c30714c15ef9af61c3ae984eb94526ed1dbf	Visual outcome of @PHENOTYPICFEATURE$ surgery in children with @DISEASE$.	has_symptom
+c8b820db9836e00b42532efe3a3f350798d3503f	In this report, we describe a case of severe, infantile onset @DISEASE$ in a patient with asymmetric progressive ptosis and early @PHENOTYPICFEATURE$.	has_symptom
+1f6b1e5777e6783343b51fbcf926a624d4e3a4b8	Two siblings with familial encephalopathy, @PHENOTYPICFEATURE$, and cerebrospinal fluid lymphocytosis, constituting the triad of @DISEASE$, are reported.	has_symptom
+ec1f2d322e2c17c5bf71f9c23a37c3700446db78	Two siblings with familial @PHENOTYPICFEATURE$, @DISEASE$, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported.	false
+a8fce8702282022b815373953195af8ee6128097	Two siblings with familial @PHENOTYPICFEATURE$, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of @DISEASE$, are reported.	false
+7d783412f7f5750f90966bd9bfeeadaffee101e4	@DISEASE$ is a rare autosomal recessive disorder characterized by flexion joint and digit contractures, skin webbing, @PHENOTYPICFEATURE$, deformity of spine and cervical spine fusion.	has_symptom
+9d55926cb4e5e082fe219b264d5e0e0e997fcec6	@DISEASE$ is a rare autosomal recessive disorder characterized by flexion joint and digit @PHENOTYPICFEATURE$, skin webbing, cleft palate, deformity of spine and cervical spine fusion.	false
+24fc946c78e57a602c1e7371818a5edb0e0939a3	Escobar syndrome is a rare autosomal recessive disorder characterized by flexion joint and digit @PHENOTYPICFEATURE$, skin webbing, @DISEASE$, deformity of spine and cervical spine fusion.	false
+072b49a31c732fa97f63f28bc6418a732992c5e8	@DISEASE$ is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, @PHENOTYPICFEATURE$, decreased lung capacity, genital abnormalities, and spinal deformity.	has_symptom
+7cdad6be7f6695ddd8297c7f7cd4bb2db0fbc375	Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, @DISEASE$, decreased lung capacity, @PHENOTYPICFEATURE$, and spinal deformity.	false
+6bc9b00f6f115cdeff696a30b2e3b25fceb94fba	@DISEASE$ is a rare autosomal recessive disorder which is characterized by @PHENOTYPICFEATURE$, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity.	false
+9c788bd1328fe35ef3ea15b68aa03f9a36e6f9f4	@DISEASE$ is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint @PHENOTYPICFEATURE$, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity.	false
+90dbf1c9a1e1cba7c322f6cfe806f26b00726f0f	@DISEASE$ is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, @PHENOTYPICFEATURE$, and spinal deformity.	false
+7ae9701434575447c511bde0f82e159e96ef0cc1	Escobar syndrome is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint @PHENOTYPICFEATURE$, pterygium in the eyes, @DISEASE$, decreased lung capacity, genital abnormalities, and spinal deformity.	false
+0d047caaf6a44d5e8eaf35264eb260b0cbbd776a	Escobar syndrome is a rare autosomal recessive disorder which is characterized by @PHENOTYPICFEATURE$, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, @DISEASE$, decreased lung capacity, genital abnormalities, and spinal deformity.	false
+f8916c2974a97a1e17145d73dd58d6ea52d92a21	The proband of family 2 was a 4-year-old girl with developmental delay, persistent neonatal @PHENOTYPICFEATURE$, ventricular septal defect, T cell dysfunction, and facial features of the @DISEASE$.	has_symptom
+beb7ed6d22da028e1ffb6e3864f7cf663587e5c4	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal @PHENOTYPICFEATURE$, and subtle facial anomalies resembling those of @DISEASE$.	has_symptom
+1549d23414ed8fa04ebde683a0ee0aa60725a483	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, @PHENOTYPICFEATURE$, neonatal hypocalcaemia, and subtle @DISEASE$ anomalies resembling those of velocardiofacial syndrome.	false
+82cec65e561c7246f40b363ca10f17de8c8e08d1	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, @PHENOTYPICFEATURE$, neonatal @DISEASE$, and subtle facial anomalies resembling those of velocardiofacial syndrome.	false
+76e935fd9d3ed57cb00d9eb29f12f610d67ea357	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, @PHENOTYPICFEATURE$, neonatal hypocalcaemia, and subtle facial anomalies resembling those of @DISEASE$.	false
+145d262fce684d9212fa41cd92fdcc81fe66751f	The CATCH 22 association (Cardiac defect, Abnormal facies, Thymic hypoplasia, Cleft palate, @PHENOTYPICFEATURE$) combines certain signs common to various syndromes (Di-George syndrome, @DISEASE$, etc.) in combination with a 22q11 chromosomal microdeletion.	has_symptom
+14408a892898a6be6073eec2ad474359db13f000	The CATCH 22 association (Cardiac defect, Abnormal facies, Thymic hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$) combines certain signs common to various syndromes (Di-George syndrome, velocardiofacial syndrome, etc.) in combination with a 22q11 chromosomal microdeletion.	false
+3db5095de41ea92312771fb9f1e52830631adc2b	The CATCH 22 association (Cardiac defect, Abnormal facies, Thymic hypoplasia, @PHENOTYPICFEATURE$, Hypocalcemia) combines certain signs common to various syndromes (Di-George syndrome, @DISEASE$, etc.) in combination with a 22q11 chromosomal microdeletion.	false
+013afe8a03794175c10aa5cf96a411b9d080a9db	The CATCH 22 association (Cardiac defect, Abnormal facies, Thymic hypoplasia, @PHENOTYPICFEATURE$, Hypocalcemia) combines certain signs common to various syndromes (@DISEASE$, velocardiofacial syndrome, etc.) in combination with a 22q11 chromosomal microdeletion.	false
+479024be1d5758dacf8ebe48aebe42cfe94de4ae	The CATCH 22 association (Cardiac defect, Abnormal facies, @PHENOTYPICFEATURE$, Cleft palate, @DISEASE$) combines certain signs common to various syndromes (Di-George syndrome, velocardiofacial syndrome, etc.) in combination with a 22q11 chromosomal microdeletion.	false
+23c3fe702fd457110b8892e39845d0778b07eced	The CATCH 22 association (Cardiac defect, Abnormal facies, @PHENOTYPICFEATURE$, Cleft palate, Hypocalcemia) combines certain signs common to various syndromes (Di-George syndrome, @DISEASE$, etc.) in combination with a 22q11 chromosomal microdeletion.	false
+3a3f52fa93c082c5613c37b25b20aafdab8cd9ed	The CATCH 22 association (Cardiac defect, Abnormal facies, @PHENOTYPICFEATURE$, Cleft palate, Hypocalcemia) combines certain signs common to various syndromes (@DISEASE$, velocardiofacial syndrome, etc.) in combination with a 22q11 chromosomal microdeletion.	false
+69bcef78a2accdda0aacde7c9881255fb04f0afc	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	has_symptom
+fd18cfcfefd9f16d30287b0f064f23986decbfdd	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+569fde7b5ba08a3e9681fd2ab096334502d573ab	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+bd9bd0858bcfdb1bea2bea2d8cb2457fd23ba1e0	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+3ba1dbf953a6a66ff1e7e6d5d527d5d40b8da893	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+caedf3362b277794676aa1be5b91d608fe6ec426	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+6e7e202c72d4e4884f21bc570084098eaf36eb92	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+0aaece4287a50d82c87ecd4f3cbd533cebfd68c5	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+d4d3d42909a77bba3480a0fbe037b24c2d4ad67f	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+52ff617a714fffbe375b427dd56d6bbd8e9a0005	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+2d75d79c85be9310eb211799ff15228fa4067f97	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+e761b1e1910e295b733b16d98be5c4842448b182	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+04d7831aa51078890724b4ebdd5e8d39e4ff3d48	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+064c02b4e1c2cb31cbb4810dc714ad395ad87eff	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+c4fb63951dc52d7b0ea60628f33f1ee8ae66e1df	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+a763da704366a9a9ac22bff6723da4917edecc14	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+b01dbddcbe953229645ff085909df89ba84257e6	Congenital disorder of glycosylation IIc (CDG IIc), also termed @DISEASE$ II, is a recessive syndrome characterized by slowed growth, @PHENOTYPICFEATURE$, and severe immunodeficiency.	has_symptom
+3c774ae8edb13cf4b2f10152cb6c1def782125f5	Mutations in the GDP-fucose transporter gene cause @DISEASE$ syndrome II, a disease characterized by slow growth, @PHENOTYPICFEATURE$ and immunodeficiency.	has_symptom
+29a5a1dfa5340e25fd92814ee740d541487b54b6	@DISEASE$ is a rare multiple congenital anomaly syndrome comprising @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and cardiac anomaly.	has_symptom
+08864ef2752f70dd9b20efa9f0d7ce0f44521052	Toriello-Carey syndrome is a rare multiple @DISEASE$ syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and @PHENOTYPICFEATURE$.	false
+991038ccf2e9d57e307e17b65be39688882fa9ee	@DISEASE$ is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and @PHENOTYPICFEATURE$.	false
+4cf5b3db2602eaea7f4ea95d547b894932e31dd7	Toriello-Carey syndrome is a rare multiple congenital anomaly syndrome comprising @DISEASE$, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and @PHENOTYPICFEATURE$.	false
+886c15e5c8986f38e40f28c1cd9f92af3921f4fa	Toriello-Carey syndrome is a rare multiple congenital anomaly @DISEASE$ comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and @PHENOTYPICFEATURE$.	false
+dca2ea506e9be6cb19d651f2bb98a5e9b928d412	Toriello-Carey syndrome is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, abnormal ears, Pierre Robin sequence, and @PHENOTYPICFEATURE$.	false
+bd0adf39e183e175da7864097386be14811ee562	@DISEASE$ comprises @PHENOTYPICFEATURE$, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects.	has_symptom
+ecca62498cebd800ec1d3eb77c1afc519b1a2373	@DISEASE$ (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by @PHENOTYPICFEATURE$, Pierre Robin sequence, unusual facial appearance, and other anomalies.	has_symptom
+c4685593caa67fa1291758ae35e3bef3c54b7334	@DISEASE$ (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, @PHENOTYPICFEATURE$, and other anomalies.	false
+88a76a561a371cfa964faf619b406a0646dcc970	Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by @DISEASE$, Pierre Robin sequence, @PHENOTYPICFEATURE$, and other anomalies.	false
+bc1df7d8c0c480f8085ea99a64775fda174abe54	Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple @DISEASE$ syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, @PHENOTYPICFEATURE$, and other anomalies.	false
+9770b12da75f6c7ee0f6e9c7ce0f820a135b0136	Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly @DISEASE$ characterized by agenesis of the corpus callosum, Pierre Robin sequence, @PHENOTYPICFEATURE$, and other anomalies.	false
+4bd79e97c9bbfb646174247eab3a3c1ff510c5fd	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia.	has_symptom
+664750cce40414e4b86d3b37d6dc017b3b2e655a	@DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, @PHENOTYPICFEATURE$, and hypotonia.	false
+457ecb48003be18951e5c1835d5ecc22ec95ef75	Toriello-Carey syndrome is characterized by @DISEASE$, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, @PHENOTYPICFEATURE$, and hypotonia.	false
+279321c3e0e21a6169ed4bc6cd6fb61ce666155a	Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, Robin sequence, abnormal ears, @PHENOTYPICFEATURE$, and hypotonia.	false
+1f16df01e542f660b17ded0b89d02678e6856c72	@DISEASE$ is a rare malformative complex, described for the first time in 1988, characterized by @PHENOTYPICFEATURE$, facial anomalies, cardiac defects and hypotonia.	has_symptom
+78d7d697101d67279aa0b1704ffe49f2281bde23	@DISEASE$ comprises @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia.	has_symptom
+cd81cc1ec4401dd286fa5c738e5d3169ce9777f2	The first sib of the couple was diagnosed with @DISEASE$ at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, @PHENOTYPICFEATURE$ and the same heart lesion (spongious cardiomyopathy).	has_symptom
+ee817f9aaba2864d060f669bed3e4fb353bf62af	@DISEASE$ comprises @PHENOTYPICFEATURE$, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, nuchal laxity and cardiac defects.	has_symptom
+735908124873a31062e5cf9634e961144d979f04	@DISEASE$ is rare condition characterized by @PHENOTYPICFEATURE$, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988].	has_symptom
+d157b3f713d1e6a822eb28a92ce0f4c589c26b64	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	has_symptom
+5fb6a73230907acc205e550bc2186d3051b7e1cb	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by @PHENOTYPICFEATURE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	has_symptom
+f5fa81a14d2314f0638a4ed397b9683ed13db40e	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	false
+23949de63b0fdb160c2e91e5e36ecee9eb8ff4e7	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by @DISEASE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	false
+7c9c10b5d7d11404caff59b5cd14c394fb61be02	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+e8b2038a87a65b97f8312af051eb753a2d291038	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by @DISEASE$, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+402eefebe6dad53700aae59b467b9d3ad15316ef	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	false
+2570afc319ac69e02c79b4a8a6f0eb8261dccb82	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+7d6fe5177e14b82c76fd9c6dc4f7c1776a61c6ad	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+f2c1b47899c8305944dc1e7376443750a9dd6d0e	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	false
+5cd73ac10f5e3896699cdaaa8b81a812f0b0a076	These findings suggest that polymorphism in @DISEASE$ codon 751 may be associated with the development of maturity onset @PHENOTYPICFEATURE$.	has_symptom
+4afb8d4c7a269a11e85dd19741b733613579d312	To analyze the association of the polymorphisms in 8-oxoguanine glycosylase-1 (OGG1), X-ray repair cross-complementing-1 (XRCC1), and AP endonuclease-1 (APE1) genes in the base excision repair pathway and xeroderma pigmentosum complementation group D (@DISEASE$) in the nucleotide excision repair pathway with the risk of @PHENOTYPICFEATURE$ in a Chinese population.	has_symptom
+0a68ba339f5729bd14693aaaf9112ee30687817b	In this study, we aimed to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum complementation group D (@DISEASE$) codon 751 and X-ray cross-complementing group 1 (XRCC1) codon 399, in a sample of Turkish patients with maturity onset @PHENOTYPICFEATURE$.	has_symptom
+c10900fbcf830345393e9f084155d566e4f199ac	CSB or @DISEASE$ can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with joint contractures, @PHENOTYPICFEATURE$, and early death.	has_symptom
+59090b54d42574ddc0a148103aa992152bbaed9b	CSB or @DISEASE$ can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+9c7105e2cf905d4f1029803ac16de0a184b50f43	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (@DISEASE$) CS-like syndrome with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+7014da0e97ec490cf60252c102a25d3c5d2f56da	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like @DISEASE$ with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+88f665cc6af7cfadac1a945e9719ef42a39d5726	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with @PHENOTYPICFEATURE$, @DISEASE$, and early death.	false
+a36a38aff3550e101ac9080622a7dd854d3ed73a	The present study suggests that a polymorphism in @DISEASE$ codon 312 may be associated with the development of maturity onset @PHENOTYPICFEATURE$.	has_symptom
+238da3232bf8ffc00f123b7ae348b6a43eab0bb9	Polymorphisms of DNA repair genes @DISEASE$ and XRCC1 and risk of @PHENOTYPICFEATURE$ development.	has_symptom
+772ff836378c322d0140cb466e0e4b9058470c9d	@DISEASE$ (@PHENOTYPICFEATURE$ and retinitis pigmentosa):  pathogenesis, molecular diagnosis and therapeutic approaches.	has_symptom
+7d05ed661043a88f39459cf17982d374ed2b01f7	@DISEASE$ (USH) is a rare disorder characterized by retinitis pigmentosa (RP) and @PHENOTYPICFEATURE$.	has_symptom
+50eaacf416510e3bb894085c1787f11b18c34f0f	@DISEASE$ (USH) combines @PHENOTYPICFEATURE$ with blindness.	has_symptom
+01b71a1fc178d4b6165a9d0fb0a8a8d953f46192	@DISEASE$ (USH) combines sensorineural deafness with @PHENOTYPICFEATURE$.	false
+1d45a1cacb978a7845cb7985ffa02699663bcdf0	Usher syndrome (USH) combines @DISEASE$ with @PHENOTYPICFEATURE$.	false
+8fabf166bd6753fe3633268f5a184f3edda99482	@DISEASE$ is a rare disorder causing retinitis pigmentosa, together with @PHENOTYPICFEATURE$.	has_symptom
+cbece33008601bfdd008eb4d564934c47198d5d4	@DISEASE$ (US) is a recessively inherited disorder combining retinitis pigmentosa (RP) and a @PHENOTYPICFEATURE$.	has_symptom
+ac2b2937bf8fdc1aeccbed7cd60561969b7f09bb	@DISEASE$ 1E may be a candidate disease locus related to the @PHENOTYPICFEATURE$ of the first child.	has_symptom
+1fc6aef0067a89df1f7904bc593b52bdfdf03962	@DISEASE$ (USH) is defined by the association of @PHENOTYPICFEATURE$ and visual impairment due to retinitis pigmentosa.	has_symptom
+b44beca3b8535fa5c123085b6071950de6e85cf6	@DISEASE$ (USH) is defined by the association of sensorineural deafness and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	false
+9e1591bac068fdf8dc9118cd0c6ecf95e0807409	Usher syndrome (USH) is defined by the association of @DISEASE$ and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	false
+a4ed3d8790498bfd88a88fc38366b58cae4c0f8d	Usher syndrome (USH) is defined by the association of sensorineural deafness and @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+fd61791e9a1ce63f4e1a966ff31536afe44cb5df	All children with severe to profound, preverbal @PHENOTYPICFEATURE$ should be screened for @DISEASE$ by ophthalmologic examination including electroretinogram.	has_symptom
+80a78b8748816b51f474bb7d97110bbb1dae36d4	@DISEASE$ is defined by the association of @PHENOTYPICFEATURE$, retinitis pigmentosa and variable vestibular dysfunction.	has_symptom
+fe0b526cdbd36083f8c3e2383b25ac6a1fe9d2f3	Usher syndrome is defined by the association of @DISEASE$, retinitis pigmentosa and variable @PHENOTYPICFEATURE$.	false
+3c3e80034e7c0057996c55d325fabed152ed006c	Usher syndrome is defined by the association of sensorineural hearing loss, @DISEASE$ and variable @PHENOTYPICFEATURE$.	false
+981139cf8afc3dbc61abd509f1bb621087058a1d	@DISEASE$ is defined by the association of sensorineural hearing loss, retinitis pigmentosa and variable @PHENOTYPICFEATURE$.	false
+db77bca4c1af53ac2a184f172c904ba6c82965c9	@DISEASE$ denotes a clinically and genetically heterogeneous combination of retinitis pigmentosa and @PHENOTYPICFEATURE$.	has_symptom
+96b822ab95a616091b96540afc4d543f5fb1b4f9	We describe a case of an extremely rapid evolution of typical hypocalcemic @PHENOTYPICFEATURE$ in a patient with familial @DISEASE$ during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced.	has_symptom
+739b7ddcc44fc700a6ec8e41d39875842c8a7f61	We describe a case of an extremely rapid evolution of typical hypocalcemic cataracts in a patient with familial autoimmune hypoparathyroidism during acute idiopathic @DISEASE$ and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+654ca79b47c1939a61c1ae4b2ff4449fdd42a784	We describe a case of an extremely rapid evolution of typical @PHENOTYPICFEATURE$ cataracts in a patient with familial autoimmune hypoparathyroidism during acute idiopathic @DISEASE$ and renal failure, while serum calcium and phosphorus were unbalanced.	false
+7506858c51539e6008bfdcf78e1e641c9c7f0ee2	We describe a case of an extremely rapid evolution of typical hypocalcemic cataracts in a patient with familial @DISEASE$ during acute idiopathic hepatic and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+fed301d29cc90bfcab0455cbbe06434ebc84fb43	We describe a case of an extremely rapid evolution of typical @PHENOTYPICFEATURE$ cataracts in a patient with familial @DISEASE$ during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced.	false
+fb6c8c9860cbd1159d42ce13c2afee9c83c9a5fd	We describe a case of an extremely rapid evolution of typical @PHENOTYPICFEATURE$ @DISEASE$ in a patient with familial autoimmune hypoparathyroidism during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced.	false
+10849177c634b28d4a93fe4755f3ad889de11ce7	We describe a case of an extremely rapid evolution of typical hypocalcemic @DISEASE$ in a patient with familial autoimmune hypoparathyroidism during acute idiopathic hepatic and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+414b22b9916fa4d77a090b19795162b7affd6841	@DISEASE$ (HH) is a consequence of unregulated insulin secretion by pancreatic beta-cells and is a major cause of hypoglycemic brain injury and @PHENOTYPICFEATURE$.	has_symptom
+76f294c625088b776603974d8fa2123e025debe2	The initiation of @DISEASE$ allowed symptoms to be controlled in the three patients with movement disorders but without @PHENOTYPICFEATURE$.	has_symptom
+8c63b19dca2b051f77f77021a1fca36e28be11dd	The initiation of MAD allowed symptoms to be controlled in the three patients with @PHENOTYPICFEATURE$ but without @DISEASE$.	false
+4921e8f41fd299091a345d3ebf301ee69894b289	The initiation of @DISEASE$ allowed symptoms to be controlled in the three patients with @PHENOTYPICFEATURE$ but without seizures.	false
+fb770799b9411d349f64657dc81b1013cf449e47	Each participant's neuropsychological activity, @PHENOTYPICFEATURE$ frequency, neurological status, and electroencephalographic (EEG) findings were compared before and after the introduction of the @DISEASE$.	has_symptom
+27b25406d09ce9278ec1802b4c0f5cb4645a3652	Five of them maintained the @PHENOTYPICFEATURE$ outcome previously achieved by the KD with the @DISEASE$.	has_symptom
+469502b506a2e18d36cbc66ad3223136f15b8dff	Several patients found the @DISEASE$ difficult to adhere to, including 3 patients who reported temporarily increased @PHENOTYPICFEATURE$ during periods of noncompliance.	has_symptom
+8bdb4d90f3fe89377522e8aa09bb3da6d3f79ea9	We found that both the @DISEASE$ and KD were efficacious in complete @PHENOTYPICFEATURE$ control and allowed other medications to be stopped in seven patients.	has_symptom
+400fe64802550d253bacf343b35e1d5d800cdd02	Unfortunately, only 2 patients maintained the @DISEASE$ with favorable @PHENOTYPICFEATURE$ outcomes.	has_symptom
+151a01d4945783626d40d57441064f0365548529	The KD group had a lower mean percentage of baseline @PHENOTYPICFEATURE$ compared with the @DISEASE$ group at 3 months (38.6% for KD, 47.9% for MAD) and 6 months (33.8% for KD, 44.6% for MAD), but the differences were not statistically significant (95% confidence interval [CI] 24.1-50.8,	has_symptom
+a03877db260a1840be61ee0cf7b748dec45798d0	The KD group had a lower mean percentage of baseline @PHENOTYPICFEATURE$ compared with the MAD group at 3 months (38.6% for KD, 47.9% for @DISEASE$) and 6 months (33.8% for KD, 44.6% for MAD), but the differences were not statistically significant (95% confidence interval [CI] 24.1-50.8,	has_symptom
+9613d589717aa163456b9378369005b8f6640776	The KD group had a lower mean percentage of baseline @PHENOTYPICFEATURE$ compared with the MAD group at 3 months (38.6% for KD, 47.9% for MAD) and 6 months (33.8% for KD, 44.6% for @DISEASE$), but the differences were not statistically significant (95% confidence interval [CI] 24.1-50.8,	has_symptom
+e3bd99321cb15f147cfbab08ba4669373088e272	To determine whether use of a ketogenic formula during the first month of the modified Atkins diet (@DISEASE$) in adults with drug-resistant epilepsy (DRE) improves @PHENOTYPICFEATURE$ reduction and compliance compared to MAD alone.	has_symptom
+9ac74abc16d0376a6528c3a5afcc52ab71ceadef	To determine whether use of a ketogenic formula during the first month of the modified Atkins diet (MAD) in adults with drug-resistant epilepsy (DRE) improves @PHENOTYPICFEATURE$ reduction and compliance compared to @DISEASE$ alone.	has_symptom
+ff3edb53fb6d30f4fb1562c6da75d8965e4c01fa	In conclusion, our experience suggests that the @DISEASE$ is similarly effective as the KD in reducing @PHENOTYPICFEATURE$ frequency in children with medically resistant epilepsy.	has_symptom
+a73d9c8eb3e07c42f2068b0afd2b9ec95c5bdcc2	Although supplementing @DISEASE$ with a ketogenic formula in the first month did not increase the likelihood of reducing @PHENOTYPICFEATURE$ compared to MAD alone, significantly more adults remained on MAD long-term with this approach.	has_symptom
+00d1281680bb0e5fdae94a0aa716b96545cf949d	Although supplementing MAD with a ketogenic formula in the first month did not increase the likelihood of reducing @PHENOTYPICFEATURE$ compared to @DISEASE$ alone, significantly more adults remained on MAD long-term with this approach.	has_symptom
+6b3f38bfa75b565ca25f89752c85030da4b203d1	We present 2 cases of a mild variant of @DISEASE$ in a 14-year-old girl and her 9-year-old brother, who were referred to us because of characteristic concave deformities of bilateral middle-lower chest walls without cardiopulmonary distress or @PHENOTYPICFEATURE$.	has_symptom
+d7e1347909d308dcb7f171b4d1271e4e59eb3cd0	@DISEASE$, a rare autosomal recessive disorder characterized by skeletal abnormalities of the thorax and extremities, is associated with respiratory distress in infancy, hepatic fibrosis in some instances, and @PHENOTYPICFEATURE$ that may develop later.	has_symptom
+c1647f71aa9dbea49c7801cd926d17eb8e8a405b	@DISEASE$, a rare autosomal recessive disorder characterized by skeletal @PHENOTYPICFEATURE$ and extremities, is associated with respiratory distress in infancy, hepatic fibrosis in some instances, and renal failure that may develop later.	false
+a0dc704b8757d27d6b3ca322ea8b865d6bb4afec	Jeune syndrome, a rare autosomal recessive disorder characterized by skeletal @PHENOTYPICFEATURE$ and extremities, is associated with respiratory distress in infancy, @DISEASE$ fibrosis in some instances, and renal failure that may develop later.	false
+f445b0718ba126f13c565528058c214bc307447c	Jeune syndrome, a rare autosomal recessive disorder characterized by skeletal @PHENOTYPICFEATURE$ and extremities, is associated with respiratory distress in infancy, hepatic fibrosis in some instances, and @DISEASE$ that may develop later.	false
+3c1eae5b935764359d38c49a46fe6982bfc24262	A retrospective diagnosis of @DISEASE$ was also established for the proband's older sister, who had died of @PHENOTYPICFEATURE$ at 8 years of age.	has_symptom
+609755d03c4509f2336e4ea0bc9c3313e8a2ce56	Based upon these cases with @DISEASE$, renal and hepatic abnormalities occur in approximately 30% of cases, with @PHENOTYPICFEATURE$ occurring in 38% of those with kidney involvement.	has_symptom
+b07ad2406f0589f737c3c24d9a502b03041c66f4	@DISEASE$ is a worldwide disease, characterized by abdominal pain, @PHENOTYPICFEATURE$, vomiting, and the passage of blood- and mucus-streaked stools.	has_symptom
+562af0e7ce43638ea7ed9a78b8381ebdb9defb8f	@DISEASE$ is a worldwide disease, characterized by abdominal pain, fever, @PHENOTYPICFEATURE$, and the passage of blood- and mucus-streaked stools.	false
+cfb378f328c79f719010f7694cb4ec3be6d35ddd	@DISEASE$ is a worldwide disease, characterized by @PHENOTYPICFEATURE$, fever, vomiting, and the passage of blood- and mucus-streaked stools.	false
+8741c93a2c9737cc40cc5b527a12b933d9bb9b2e	Shigellosis is a worldwide disease, characterized by abdominal pain, @DISEASE$, @PHENOTYPICFEATURE$, and the passage of blood- and mucus-streaked stools.	false
+fcb5c8e6bdbd20e6be0d626bcbb1cc58f5d44f5c	Shigellosis is a worldwide disease, characterized by @PHENOTYPICFEATURE$, @DISEASE$, vomiting, and the passage of blood- and mucus-streaked stools.	false
+e1f3fe8613c2674b6771c1932670a3cfa144c2f8	A 55-year-old woman with @DISEASE$, cirrhosis, anorexia, and @PHENOTYPICFEATURE$.	has_symptom
+177ee97b6214964a7de8ed068688da9fe5bb4d1a	This lesson discusses a case where @DISEASE$, acute hepatitis B and acute toxoplasmosis were diagnosed in a lady presenting with @PHENOTYPICFEATURE$ and jaundice.	has_symptom
+099b97aabdf1c0524e4a90b7d3a68fc8c9f04609	A boy without any family history of neurocutaneous disorders who had characteristics of both @DISEASE$ and tuberous sclerosis, as cafe-au-lait patches, six greater than 0.5 cm, @PHENOTYPICFEATURE$, optic nerve glioma, focal alterations of the myelin vacuolization of the white matter from both cerebellar hemispheres, brain stem, basal ganglia, characteristic of type 1 neurofibromatosis.	has_symptom
+c6de8062c6382c1a680440f347797ecb6297e946	A boy without any family history of neurocutaneous disorders who had characteristics of both neurofibromatosis and tuberous sclerosis, as cafe-au-lait patches, six greater than 0.5 cm, @PHENOTYPICFEATURE$, optic nerve glioma, focal alterations of the myelin vacuolization of the white matter from both cerebellar hemispheres, brain stem, basal ganglia, characteristic of type 1 @DISEASE$.	has_symptom
+5fb1214c6d8694417d69128cfb37f183994867ac	@DISEASE$ (NF1) patients are predisposed to learning disabilities, @PHENOTYPICFEATURE$, and brain tumors as well as abnormalities on magnetic resonance imaging that are postulated to result from abnormal myelination.	has_symptom
+ff70dc0431b5f74fc70d99685c00fe4383df015c	Macrocrania (i.e., @PHENOTYPICFEATURE$) is a common manifestation of von Recklinghausen @DISEASE$ (NF-1), occurring in approximately 30% of patients with this disorder.	has_symptom
+91b6666ca35ec6c1772b10cd94ebb9361655ec88	Using quantitative magnetic resonance imaging morphometry, we report that the whole brain volumes of patients with neurofibromatosis-1 are significantly larger than normal, confirm the prevalence of @PHENOTYPICFEATURE$ as about 50%, and report that macrocephaly in patients with @DISEASE$ does not appear to be related to the familial or sporadic origin of the neurofibromatosis-1 or to the presence or absence of T2-weighted hyperintensities.	has_symptom
+b83d8c78b2796418e61bf0d6b1bd7844e86d62cd	We propose that delayed developmental apoptosis results in @PHENOTYPICFEATURE$ and a delay in the development of appropriate neuronal connections in children with @DISEASE$.	has_symptom
+7080e382a857fb17eceab08eb3a720d8b3a15433	There was no family history of @DISEASE$, multiple caf?-au-lait spots, axillary freckling, @PHENOTYPICFEATURE$, or learning disabilities.	has_symptom
+373f47ea7ac75e75a1da6b9d2c3eb7a1149415e1	The clinical features of the reported disorder resemble those of @DISEASE$ and consist of multiple caf?-au-lait spots, axillary freckling and @PHENOTYPICFEATURE$.	has_symptom
+20315a96ea5f767c3e3dd5f41c28aa480f1e2cb4	Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as @DISEASE$ (NF1)-like syndrome or Legius syndrome, consisted of multiple caf?-au-lait macules, axillary freckling, learning disabilities and @PHENOTYPICFEATURE$.	has_symptom
+6750d3020f3b69e57b204c22e58fa0afc6c745f4	Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (@DISEASE$)-like syndrome or Legius syndrome, consisted of multiple caf?-au-lait macules, axillary freckling, learning disabilities and @PHENOTYPICFEATURE$.	has_symptom
+da393b163886a53b2e9f286eb216e1942362b105	Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with @DISEASE$ (NF1), such as CALMs, freckling, @PHENOTYPICFEATURE$ and learning disability.	has_symptom
+e0ff0c0c29f5572c79680b2bb9b8846126d09c68	To study prevalence of clinical features among Brazilian patients diagnosed with @DISEASE$(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as short stature, @PHENOTYPICFEATURE$, muscle strength, voice abnormalities and oral motor disorders.	has_symptom
+5f571c51e158854b9ff66900d331c55c2808b8c9	To study prevalence of clinical features among Brazilian patients diagnosed with neurofibromatosis type 1(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as short stature, @DISEASE$, muscle strength, @PHENOTYPICFEATURE$ and oral motor disorders.	false
+7f4d2e64bc17ef9e7ee3f77bd63f510e617b1531	To study prevalence of clinical features among Brazilian patients diagnosed with @DISEASE$(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as @PHENOTYPICFEATURE$, macrocephaly, muscle strength, voice abnormalities and oral motor disorders.	false
+4b791ba687d914b3485d58782507dc1aba2dca56	To study prevalence of clinical features among Brazilian patients diagnosed with neurofibromatosis type 1(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as @PHENOTYPICFEATURE$, @DISEASE$, muscle strength, voice abnormalities and oral motor disorders.	false
+b35c5aa197397a1a1d14d81789b271134e7c5014	To study prevalence of clinical features among Brazilian patients diagnosed with @DISEASE$(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as short stature, macrocephaly, muscle strength, @PHENOTYPICFEATURE$ and oral motor disorders.	false
+ea1da62ccd2818a663cf4a3ac3a1df7bbf6ee2bc	@DISEASE$ and @PHENOTYPICFEATURE$ (Reye's syndrome?)	has_symptom
+f291f98e8308a9126c071e5ce93b17e6f97edc19	[Modern aspects of intensive therapy of @DISEASE$, complicated by @PHENOTYPICFEATURE$].	has_symptom
+371b91a195d62682f25b09417ea5ac15656eece3	The main physiopathological hypothesis is a mitochondrial metabolism insult causing @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+76bd981308fd37603def6e1af4ccda5c2e5dcf4c	Hepatic stimulator substance activity in animal model of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+f0bd5fef84443d63d67939e0de5cef26d2c79b82	@DISEASE$ and @PHENOTYPICFEATURE$ in a 15-month-old infant.	has_symptom
+3f4b0fdbe85b3865459d92b255fe910d00d4bbb4	@DISEASE$ associated with coagulopathy and @PHENOTYPICFEATURE$ can rarely occur.	has_symptom
+9c4ac94252f97f094a33fc9d47f450ce213384a2	Falciparum malaria occasionally presents with @PHENOTYPICFEATURE$, jaundice and fever mimicking @DISEASE$.	has_symptom
+269c33307bb3ea895b7224c9e88e20e79abef8c4	Acute @DISEASE$, @PHENOTYPICFEATURE$ and early CT changes.	has_symptom
+ea1da62ccd2818a663cf4a3ac3a1df7bbf6ee2bc	@DISEASE$ and @PHENOTYPICFEATURE$ (Reye's syndrome?)	has_symptom
+e3e84bf711232d7080786a6748e2137f08fc6c3d	The clinical presentation of @DISEASE$ includes jaundice, coagulopathy and @PHENOTYPICFEATURE$.	has_symptom
+0d71d7072845266106a0e299ad358880713cd3db	@DISEASE$ (SDS) is an inherited bone marrow failure disorder with cytopenia and a high propensity for myelodysplastic syndrome (MDS) and @PHENOTYPICFEATURE$, particularly acute myeloid leukaemia.	has_symptom
+6f4f90a02f29fe183d7f44cd5abb07ab50b66dd4	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the @DISEASE$.	has_symptom
+3f36f6c5fbea26fb897c4741d389ec68fff6430b	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the @DISEASE$.	false
+0a8c5186105a9733fd8078ef7524c73bc8d7f403	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild @DISEASE$ that has been associated with the Kjellin syndrome.	false
+31bdd43f1f73e31bd6153d34ee2e47e59601e8da	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+1c5a81cc29a39eabd8a2733d015dad5125788ae0	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+c2e113e13ee3e20d071810633de1594f8ad4ef72	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild @DISEASE$ that has been associated with the Kjellin syndrome.	false
+e066c6cc081da0c98b6bdac195556cf7389bf2c2	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+d4e92a501aed04d1238d448fae523b86bcea4b2c	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+8e24a94aff4e55433e5e9a8afbd90d8ad2b564c2	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic @DISEASE$, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+7f855b2104ca74b7d5522c0d2b05cf5040325610	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+0fa3125d45d89a82138afb8636d70ceab44dedcc	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the @DISEASE$.	false
+ec695e5cb964b53e3ec9736d4b34795b9523889f	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, @PHENOTYPICFEATURE$, and distal amyotrophy, sometimes designated as @DISEASE$.	has_symptom
+eda5bba11b72c06abf7f667ff4cd37de4c0e94b2	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with @PHENOTYPICFEATURE$, @DISEASE$ maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.	false
+e6c298e03ae4103512f28333e87511435499da6d	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with @PHENOTYPICFEATURE$, pigmented maculopathy, dysarthria, @DISEASE$, and distal amyotrophy, sometimes designated as Kjellin syndrome.	false
+c3d86d0b7413fb01349354b70855aa66c7363b57	The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with @PHENOTYPICFEATURE$, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as @DISEASE$.	false
+8f047622f5bafad490953eff9d122c03b8472327	The SPG15 locus was first reported to account for a rare form of spastic @DISEASE$ variably associated with @PHENOTYPICFEATURE$, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome.	false
+4f337a490fa1888ef4cf75eaf90b20878c28f854	Symptoms were scored by three variables: nausea (N), @PHENOTYPICFEATURE$ (V), and GI total symptom score (@DISEASE$).	has_symptom
+7a94f6c628dc871b60b5a2a323e4765cfa609cd2	Within 48 hours of admission, signs and symptoms of @DISEASE$ (TSS) were present including high spiking fevers, @PHENOTYPICFEATURE$, diarrhea, hypotension, conjunctival hyperemia, and a diffuse macular erythroderma.	has_symptom
+59c18ae2921b168df141a9a72f0124e473745b7a	Within 48 hours of admission, signs and symptoms of toxic shock syndrome (@DISEASE$) were present including high spiking fevers, @PHENOTYPICFEATURE$, diarrhea, hypotension, conjunctival hyperemia, and a diffuse macular erythroderma.	has_symptom
+bb0eecb9c331fd0a5d2f46821e17fe683a5b06f6	Since systemic administration of SEs induces superantigenic activity leading to @DISEASE$ that may mimic enterotoxic activity of SEs such as @PHENOTYPICFEATURE$ and diarrhea, oral administration of SEs in the monkey feeding assay is considered as a standard method to evaluate emetic activity of SEs.	has_symptom
+2914bc6e8168af16a83d507663b980ed5a940568	Classic @DISEASE$ is a serious multisystem disorder resulting from Staphylococcus aureus phage I toxic shock syndrome toxin 1 (TSST-1), and it is characterized by fever, rash, hypotension, mucosal hyperemia, @PHENOTYPICFEATURE$, diarrhea, and laboratory evidence of multisystem organ dysfunction.	has_symptom
+f1addff9a2c4f86b0abebdfe32c27bebadc6f29c	Classic @DISEASE$ is a serious multisystem disorder resulting from Staphylococcus aureus phage I toxic shock syndrome toxin 1 (TSST-1), and it is characterized by @PHENOTYPICFEATURE$, rash, hypotension, mucosal hyperemia, vomiting, diarrhea, and laboratory evidence of multisystem organ dysfunction.	false
+706e9a5096e688d54bb32ea64dd5f4b5d0f9ca12	Classic TSS is a serious multisystem disorder resulting from Staphylococcus aureus phage I toxic shock syndrome toxin 1 (TSST-1), and it is characterized by @PHENOTYPICFEATURE$, rash, hypotension, mucosal hyperemia, @DISEASE$, diarrhea, and laboratory evidence of multisystem organ dysfunction.	false
+789f60fb5ae5f452048d5c96c2dcb735f814d440	Classic TSS is a serious multisystem disorder resulting from Staphylococcus aureus phage I toxic shock syndrome toxin 1 (TSST-1), and it is characterized by @PHENOTYPICFEATURE$, rash, @DISEASE$, mucosal hyperemia, vomiting, diarrhea, and laboratory evidence of multisystem organ dysfunction.	false
+9772ee34cd64f155a27a5f606828b119313b865a	Classic TSS is a serious multisystem disorder resulting from Staphylococcus aureus phage I toxic shock syndrome toxin 1 (TSST-1), and it is characterized by @PHENOTYPICFEATURE$, rash, hypotension, mucosal hyperemia, vomiting, @DISEASE$, and laboratory evidence of multisystem organ dysfunction.	false
+70eba64082d18439e9f05e1a18b1369ccfc20e90	Data on the total symptom severity score (@DISEASE$), nausea severity score, @PHENOTYPICFEATURE$ severity score, and gastric emptying were extracted and analyzed.	has_symptom
+0d15835ce2fa18e3283aa26ad059df188c476b25	The @DISEASE$ (TSS) is a recently recognized syndrome characterized by sudden onset of high fever, @PHENOTYPICFEATURE$, and diarrhea with rapid progression to hypotension and shock.	has_symptom
+9e4378d04e4ea9387fcab25f447b9a16cc643e29	The toxic-shock syndrome (@DISEASE$) is a recently recognized syndrome characterized by sudden onset of high fever, @PHENOTYPICFEATURE$, and diarrhea with rapid progression to hypotension and shock.	has_symptom
+cb9e0f0c3c6132dc37cf801c9581086e979601d1	Symptoms of nausea, @PHENOTYPICFEATURE$, abdominal pain, early satiety/anorexia, bloating and total symptom score (@DISEASE$) as reported by the patients were recorded before and after the treatment at a follow up visit 2 to 16 weeks after initiation of therapy.	has_symptom
+1320c87028f9c4972e24dadfb2218c71e50bfe5c	Symptoms of nausea, @DISEASE$, @PHENOTYPICFEATURE$, early satiety/anorexia, bloating and total symptom score (TSS) as reported by the patients were recorded before and after the treatment at a follow up visit 2 to 16 weeks after initiation of therapy.	false
+e39d4f6c03617f7867d382c0174eaf2efb751976	Symptoms of nausea, vomiting, @PHENOTYPICFEATURE$, early satiety/anorexia, bloating and total symptom score (@DISEASE$) as reported by the patients were recorded before and after the treatment at a follow up visit 2 to 16 weeks after initiation of therapy.	false
+bda2d82eb43667ba136aa52e293a1bbad698e7f2	@DISEASE$ (TSS) is an acute febrile illness accompanied by watery diarrhea, sunburn rash, @PHENOTYPICFEATURE$, hypotension, and multiple organ involvement.	has_symptom
+71398a7411a5329fd1e5b8f28f103cf92c6f36bf	Toxic shock syndrome (@DISEASE$) is an acute febrile illness accompanied by watery diarrhea, sunburn rash, @PHENOTYPICFEATURE$, hypotension, and multiple organ involvement.	has_symptom
+5f6e105864d415d68abdd4b27c671df2d0c7fada	Total gastroparesis symptom scores (@DISEASE$),  weekly @PHENOTYPICFEATURE$ frequency scores (VFS), health-related quality of life (using the SF-12(?) questionnaire), gastric emptying, nutritional status and weight were compared before and after GNM.	has_symptom
+4f18183bcf60cc046feafc6818b57494f3f7b37e	@DISEASE$, a potentially lethal multisystem illness that usually affects menstruating women, is characterized by the acute onset of fever, hypotension, skin and mucous membrane changes, nausea, @PHENOTYPICFEATURE$, diarrhea, myalgias, capillary leak, vascular collapse and multiorgan dysfunction.	has_symptom
+12964a5a2a9599ac85f730ade798a5ef112ae2b9	The most common clinical presentations of patients with @DISEASE$ include @PHENOTYPICFEATURE$, cough, and dyspnea.	has_symptom
+253d1c118b61db9346730f201a29f7f417db5ddf	The macaques infected with the newly isolated reovirus developed a @PHENOTYPICFEATURE$, diffuse alveolar damage and pulmonary interstitial inflammation similar to that noted in @DISEASE$ patients.	has_symptom
+95d4fc78ccaa627e818446ab95ae2640214b9f8f	The main symptoms and signs of the @DISEASE$ patients would include @PHENOTYPICFEATURE$, cough and chest X-ray changes.	has_symptom
+fe508b619f98f40e07406cbf3ecb8cb7a8c83455	Clinical symptoms that were significantly more common among patients with @DISEASE$ were @PHENOTYPICFEATURE$, myalgia, dyspnoea, and nausea or vomiting.	has_symptom
+8334e07d414616c1fe19ccf92e38cb182ed0aa2b	The WHO case definition of suspected SARS was @PHENOTYPICFEATURE$, respiratory symptoms and close contact with @DISEASE$ patients or travel history to an epidemic area.	has_symptom
+19f497159c916cdca41500ae55dd1452c47c1ba9	@DISEASE$ (SARS) is a recently discovered viral disease, characterized by @PHENOTYPICFEATURE$, cough, acute fibrinous pneumonia and high infectivity.	has_symptom
+47240ac0d3ec02ff5d44d4a7370cac08162ae7df	@DISEASE$ (SARS) is an emerging disease characterised by @PHENOTYPICFEATURE$ and atypical pneumonia and caused by a novel coronavirus.	has_symptom
+7d7170bb9d30f2ac7c7d104a8d8d2c169e604dfc	Severe acute respiratory syndrome (SARS) is an emerging disease characterised by @DISEASE$ and atypical @PHENOTYPICFEATURE$ and caused by a novel coronavirus.	false
+d6cd5f163b723e118d66f84a0eb5d01e27b5595d	@DISEASE$ (SARS) is an emerging disease characterised by fever and atypical @PHENOTYPICFEATURE$ and caused by a novel coronavirus.	false
+f083181617b3d69ad4e0c42a4a769a53e072b00a	Serum neopterin level in @DISEASE$ patients was associated with @PHENOTYPICFEATURE$ period and thus the clinical progression of the disease, while there was no significant correlation between the CRP level and the fever period.	has_symptom
+63b7c98e25bfe82b48eb2e780c7c766ada2a659d	Children with @DISEASE$ presented with @PHENOTYPICFEATURE$, nonproductive cough, malaise, chills, headache, myalgia, and loss of appetite.	has_symptom
+fe508b619f98f40e07406cbf3ecb8cb7a8c83455	Clinical symptoms that were significantly more common among patients with @DISEASE$ were @PHENOTYPICFEATURE$, myalgia, dyspnoea, and nausea or vomiting.	has_symptom
+781255012f88e5e1970c357407f8549a2e800c1d	@DISEASE$ (FH) is an @PHENOTYPICFEATURE$ genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels.	has_symptom
+e97f839ca6accf017ef3e0daa2708adf238a27eb	Clinically most relevant are @PHENOTYPICFEATURE$ @DISEASE$ (FH) and familial combined hyperlipoproteinemia (FCHL).	has_symptom
+6c600b3d01d9e4a1d9ca241096087f0533c0898b	@DISEASE$ (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing @PHENOTYPICFEATURE$ and humeroradial fusion.	has_symptom
+fd73e0b66f0d2faf8dab12d8afff1ddff1ad63c3	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @DISEASE$ and eye defects.	has_symptom
+be2c75b9b3757011dbb834269bdcc0b3ff45ae90	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+1402a94ce23142bb824d53bea16bbffe6bab47c0	Mowat-Wilson syndrome (MWS) is a recently delineated @DISEASE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+0a2b2d99136ece20134756aa33dff51bd4ccc7fc	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+6c12001b9c02981d61114fd42a472d96eaba8748	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+2c4ea62d2fa167a065432857bf38e2fb702c93b5	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, @DISEASE$ and eye defects.	false
+0cf662a951edee013ebba4894408a7e04772a94d	@DISEASE$ (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+e9f9e234a3b056a1cb3a3f4289b82b2aa2a0a3db	acanthosis nigricans, florid cutaneous papillomatosis, necrolytic migratory erythema, Leser-Tr?lat syndrome, @PHENOTYPICFEATURE$, panniculitis and @DISEASE$.	has_symptom
+72c66237c7720362281ec43feb4bb7cc050de23c	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves @PHENOTYPICFEATURE$, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and cognitive impairment.	has_symptom
+79731736201d1cd799a0b932fe8467c6b8781720	Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves @DISEASE$, action tremor, Parkinsonism, @PHENOTYPICFEATURE$, autonomic disorders, and cognitive impairment.	false
+ab0500259f8fbf8a27271e6c58b3aaaf02673e83	Fragile X-associated tremor/ataxia syndrome (FXTAS) develops in a subset of fragile X premutation carriers and involves @DISEASE$, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and @PHENOTYPICFEATURE$.	false
+0bce9a9c6cd0f4348e91d662c48d16f50db2c56d	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, @PHENOTYPICFEATURE$, autonomic disorders, and cognitive impairment.	false
+d8b78ef5523a25531210adb2912c70de540d715c	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and @PHENOTYPICFEATURE$.	false
+fa11bc94c02b1747fbcdd098c05710d059c7861f	@DISEASE$ (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset @PHENOTYPICFEATURE$, autonomic dysfunction and/or cognitive impairment.	has_symptom
+50a6e59a2ce2a5e975f99464c3e068fe8e274b64	@DISEASE$ (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset gait ataxia, autonomic dysfunction and/or @PHENOTYPICFEATURE$.	false
+88ed4cc1afa18a7d9211acfa7a732f22db413570	Fragile X-associated Tremor/Ataxia syndrome (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset @DISEASE$, autonomic dysfunction and/or @PHENOTYPICFEATURE$.	false
+f2bea0ddaa2f839de5a86404ed9f11f1193ff13c	@DISEASE$ clinical core features include action tremor, @PHENOTYPICFEATURE$, cognitive deficits progressing to dementia, and frequently parkinsonism.	has_symptom
+63b1130979c5d0a3e88005bd7609c75a147372c2	@DISEASE$ (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene that is characterized by progressive action tremor, @PHENOTYPICFEATURE$, and cognitive decline.	has_symptom
+043784768ebde9b013b3301a8300c1dccc0b799c	@DISEASE$ (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, @PHENOTYPICFEATURE$, autonomic dysfunction, and cognitive decline.	has_symptom
+ff00027841d21100eb7c18dd86e325dde432aed5	@DISEASE$ (FXTAS) is a progressive degenerative movement disorder characterized by kinetic tremor, cerebellar @PHENOTYPICFEATURE$, parkinsonism, and cognitive decline.	has_symptom
+d78b530668f419c0e0b970043e58407959e2a64b	@DISEASE$ (FXTAS) is a progressive degenerative @PHENOTYPICFEATURE$ characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline.	false
+90aa2e173e8765e4a3d1738730d7d751fc9815a0	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative @PHENOTYPICFEATURE$ characterized by kinetic tremor, cerebellar @DISEASE$, parkinsonism, and cognitive decline.	false
+ea248546070ad6ed08f9ceec23339cc09525f0ed	@DISEASE$ (FXTAS) is a neurodegenerative disorder with core features of action tremor and cerebellar @PHENOTYPICFEATURE$.	has_symptom
+3e0a43405a8c61ab60370d363d82a2227328adfb	Selective rescue of heightened anxiety but not @PHENOTYPICFEATURE$ in a premutation 90CGG mouse model of @DISEASE$.	has_symptom
+b544f74d924c7d463f0b0ba14570b041d7fbf70b	@DISEASE$ (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, @PHENOTYPICFEATURE$ and dementia associated with mild brain atrophy.	has_symptom
+d9e771db39c6a050a5568bd460eca8bbbcaa3848	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, @DISEASE$ and dementia associated with mild @PHENOTYPICFEATURE$.	false
+7006dc74f44af4607cbb43f513db7f6d8f839365	@DISEASE$ (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild @PHENOTYPICFEATURE$.	false
+2c6c8adc088fc8696159ddc5eb920bfcbd3f69c8	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset @DISEASE$ characterized by progressive intention tremor, gait ataxia and dementia associated with mild @PHENOTYPICFEATURE$.	false
+42583237556ee0d07fb41d9b6cd0497a08b0d438	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and @DISEASE$ associated with mild @PHENOTYPICFEATURE$.	false
+e124f53c0378cfe94c21e3378a6a0d9fd07fb031	@DISEASE$ (FXTAS) is a neurodegenerative disorder with defining clinical features that include kinetic tremor, @PHENOTYPICFEATURE$, and parkinsonism, with associated features spanning medical, cognitive, and psychiatric clinical domains.	has_symptom
+1c26d64a393f411368a3ec74579310312a1597b2	The present paper is a report of a pancreatic @DISEASE$ in a 60 year-old female; she presented with watery diarrhea, facial flushing, @PHENOTYPICFEATURE$, hypochlorhydria, metabolic acidosis and reversible renal failure; these are the usual manifestations of the syndrome.	has_symptom
+6891d1089f62cda627875b713271cf968526df22	One patient had a @DISEASE$ syndrome with diarrhea, @PHENOTYPICFEATURE$, and hypercalcemia, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	has_symptom
+9e8f8dac282af1c57082268ebea53f4be16f16b2	One patient had a @DISEASE$ syndrome with diarrhea, hypokalemia, and @PHENOTYPICFEATURE$, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+c2b07a5039e0ffdc22b470b82e813efb5e033201	One patient had a VIPoma @DISEASE$ with diarrhea, hypokalemia, and @PHENOTYPICFEATURE$, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+53b8dc4a3da50bdd1a9d82461931cd6b93184960	One patient had a VIPoma syndrome with diarrhea, @DISEASE$, and @PHENOTYPICFEATURE$, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+18d291968eeaa0e0ff1d7425c44b21137ee57058	One patient had a VIPoma syndrome with @DISEASE$, hypokalemia, and @PHENOTYPICFEATURE$, all symptoms were reversible after treatment consisting of somatostatin analogue and arterial liver embolization followed by liver resection.	false
+03a045eb0eb2cbc4c2293ec059723d22f11dea61	@DISEASE$, characterized by diarrhea, @PHENOTYPICFEATURE$, and hypochlorhydria, is caused most commonly by vasoactive intestinal polypeptide-secreting islet cell tumors of the pancreas.	has_symptom
+a9db32fd1fcb25bac3822c76af1f7becbc10d789	A patient with watery diarrhea, @PHENOTYPICFEATURE$, hypochlorhydria, and a non-beta islet cell carcinoma of the pancreas (@DISEASE$) was found to have an elevated vasoactive intestinal peptide (VIP) concentration in the plasma as well as in the tumor.	has_symptom
+2e43169e3181f56bed2986f2687778e9ee6e5693	A patient with watery diarrhea, @DISEASE$, hypochlorhydria, and a non-beta islet cell carcinoma of the pancreas (Verner-Morrison syndrome) was found to have an elevated vasoactive intestinal peptide (VIP) concentration in the plasma as well as in the @PHENOTYPICFEATURE$.	false
+7c0d22182a251d7edfbbf734937c4d32149a6573	A patient with watery diarrhea, hypokalemia, hypochlorhydria, and a non-beta islet cell @DISEASE$ (Verner-Morrison syndrome) was found to have an elevated vasoactive intestinal peptide (VIP) concentration in the plasma as well as in the @PHENOTYPICFEATURE$.	false
+8c42fc7e2ee3def40e0a2f229e828ceaf0774d7a	A patient with watery @DISEASE$, hypokalemia, hypochlorhydria, and a non-beta islet cell carcinoma of the pancreas (Verner-Morrison syndrome) was found to have an elevated vasoactive intestinal peptide (VIP) concentration in the plasma as well as in the @PHENOTYPICFEATURE$.	false
+ff0c7603026311505e968469284a05c255b51237	A patient with watery diarrhea, hypokalemia, hypochlorhydria, and a non-beta islet cell carcinoma of the pancreas (@DISEASE$) was found to have an elevated vasoactive intestinal peptide (VIP) concentration in the plasma as well as in the @PHENOTYPICFEATURE$.	false
+f13604967653dfe5a70a7899c9edf677ecb02fe2	Predominant symptoms of the @DISEASE$ are diarrhea and @PHENOTYPICFEATURE$; further symptoms can be impaired carbohydrate tolerance, hypercalcemia distension of the intestine and skin alterations.	has_symptom
+2434ad7ff5d1f4f0a1f5a3b50b30d5874f11f239	The diagnosis of @DISEASE$ was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or @PHENOTYPICFEATURE$, with or without mutation in CLCN5 or OCRL1 genes.	has_symptom
+b15634cd873751f9586f9f7c275a6e4c2715e048	The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, @PHENOTYPICFEATURE$ or @DISEASE$, with or without mutation in CLCN5 or OCRL1 genes.	false
+a0654aa1424bc753b16ff38c4707bba9687d4298	The diagnosis of @DISEASE$ was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, @PHENOTYPICFEATURE$ or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes.	false
+cb066c4919f1aab5e1359bbde568ce888e2aadfa	The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight @DISEASE$, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, @PHENOTYPICFEATURE$ or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes.	false
+dffe456f7bc8fb1e037a97ba6584bdfefb4ddae3	Hypercalciuria is regarded as a characteristic symptom of @DISEASE$, an X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, nephrocalcinosis/nephrolithiasis, and progressive @PHENOTYPICFEATURE$ due to mutations in the CLCN5 gene.	has_symptom
+c2eaf18c19a40d41d699f8a6894bdfc7c74cbe49	The @DISEASE$ is a @PHENOTYPICFEATURE$ syndrome with delayed bone age, speech development, and typical facial features.	has_symptom
+1331978b875c9f8e5b8719c2310239e2876dabf6	The Floating-Harbor syndrome is a growth retardation syndrome with @PHENOTYPICFEATURE$, speech development, and typical @DISEASE$ features.	false
+12fa03515ebb2be127c6daa30870abbaa58a21bd	The Floating-Harbor syndrome is a growth retardation @DISEASE$ with @PHENOTYPICFEATURE$, speech development, and typical facial features.	false
+d1e9517f165957729e95f5fec71af57156190151	The Floating-Harbor syndrome is a @DISEASE$ syndrome with @PHENOTYPICFEATURE$, speech development, and typical facial features.	false
+c088ef7b7bfe275d00de0cd8768a1af0debc3c9f	The @DISEASE$ is a growth retardation syndrome with @PHENOTYPICFEATURE$, speech development, and typical facial features.	false
+aea4ba29d2b8c2b9be1a42e4321b3974410bd822	@DISEASE$ (TA), a disease most often diagnosed in patients over the age of 50 years, frequently presents with nonspecific and often ignored complaints (headache, symptoms of polymyalgia rheumatica, low-grade fever, fever of unknown origin, loss of appetite, depression, joint pains, @PHENOTYPICFEATURE$, hair loss, and even respiratory symptoms).	has_symptom
+4d9e6e46eaca1344f0735e1a5f74b4685395c385	We report the case of a 77-year-old woman who presented with fatigue, @PHENOTYPICFEATURE$, fever, neck pain, jaw claudication and cough, diagnosed with @DISEASE$.	has_symptom
+d844664fe1cfee34460d3f4a0bacbc7b3f77e0d5	We report the case of a 77-year-old woman who presented with fatigue, weight loss, @PHENOTYPICFEATURE$, neck pain, jaw claudication and cough, diagnosed with @DISEASE$.	false
+1a6320655f2779bae63809c3b5c923b77fd00b0f	We report the case of a 77-year-old woman who presented with fatigue, @DISEASE$, @PHENOTYPICFEATURE$, neck pain, jaw claudication and cough, diagnosed with giant cell arteritis.	false
+19edf24c8d026af34bbffb9be388abc55dcc9563	We report the case of a patient with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis with involvement of the temporal artery, presenting with clinical manifestations of @DISEASE$ and temporal arteritis, such as temporal headache, jaw claudication, @PHENOTYPICFEATURE$, night sweats and increased inflammatory parameters.	has_symptom
+63d8eca6d375445a816da31b15741081bf948658	Patients suspected of having @DISEASE$ were more likely to have a positive TAB finding if they presented with @PHENOTYPICFEATURE$ or jaw claudication.	has_symptom
+377284b51e568cdb8c97e7113411192c70a10180	@DISEASE$ (GCA) is a vasculitis of medium and large sized vessels that occurs most often in people >50 years of age with associated symptoms of fever, @PHENOTYPICFEATURE$, headache and jaw claudication.	has_symptom
+763b3f4ef98e0d1b5690463420d616ff16b0f82c	We present a 51-year-old Caucasian woman with ophthalmologic findings indicative of @DISEASE$ in the setting of @PHENOTYPICFEATURE$ and migraine with aura.	has_symptom
+fa44d6aa9e947e404de06f444c5e702ade7ba947	The possibility of @DISEASE$ should be considered in patients with refractory @PHENOTYPICFEATURE$ with myoclonia.	has_symptom
+ea3a4f5068c4034d97a7cd596e5f40458d9a3547	Intractable @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+be933fa3c2361507682922ce7b38c07ae9043dd4	A girl with intractable @PHENOTYPICFEATURE$ and facial myoclonia at age 7 years was eventually diagnosed with @DISEASE$ because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	has_symptom
+1432a1f065d4e42d663598b2ad2d15b0d0f70a0f	A girl with intractable absence seizures and facial @PHENOTYPICFEATURE$ at age 7 years was eventually diagnosed with @DISEASE$ because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+40786fd69ce3ca9fccce984797e5a18fae60e22d	A girl with intractable absence seizures and facial myoclonia at age 7 years was eventually diagnosed with @DISEASE$ because of @PHENOTYPICFEATURE$, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+c0ea4df8b423bb61e56fea89a21c0e96ae68776c	A girl with intractable @DISEASE$ and facial @PHENOTYPICFEATURE$ at age 7 years was eventually diagnosed with hyperinsulinism-hyperammonemia syndrome because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+c0dee264175d1131b0cae8b8e9195f6f7b76494b	A girl with intractable absence seizures and @DISEASE$ @PHENOTYPICFEATURE$ at age 7 years was eventually diagnosed with hyperinsulinism-hyperammonemia syndrome because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+3d975d14e020b6f42e68ad62b10a4136e145d050	A girl with intractable @DISEASE$ and facial myoclonia at age 7 years was eventually diagnosed with hyperinsulinism-hyperammonemia syndrome because of @PHENOTYPICFEATURE$, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+5d9820ef7457ade902be69058c1b389c6ee2bb6b	A girl with intractable absence seizures and @DISEASE$ myoclonia at age 7 years was eventually diagnosed with hyperinsulinism-hyperammonemia syndrome because of @PHENOTYPICFEATURE$, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+9b27226322026876230a34e5d9c28e04c9f11a3e	@DISEASE$ comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, @PHENOTYPICFEATURE$, and renal and genital anomalies.	has_symptom
+bfdffce577d37b9982f47cfd7d37ce22d3a27375	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with @DISEASE$, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and @PHENOTYPICFEATURE$.	false
+09d0d19925bc33cb3f8838576a17fc107f1dfa06	McKusick-Kaufman syndrome comprises hydrometrocolpos, @PHENOTYPICFEATURE$, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising @DISEASE$, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+227523d6ca31e40170f6f90d3af9fb116b0d7835	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and renal and genital anomalies.	false
+f95d08b8fcb0ad935b98214ab8dec9d980cb8f8d	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising @DISEASE$, @PHENOTYPICFEATURE$, obesity, mental retardation, and renal and genital anomalies.	false
+4aadd6a02cc9db8a34f484e956b74799547cfb9d	@DISEASE$ comprises hydrometrocolpos, polydactyly, and @PHENOTYPICFEATURE$ and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+87e23aea4141399f245c7fe2b5369949f8bb56b1	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, @DISEASE$, and renal and @PHENOTYPICFEATURE$.	false
+bca167b549a8f1c6a547ee8d8b3176d644462f69	@DISEASE$ comprises hydrometrocolpos, @PHENOTYPICFEATURE$, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+31090ec9d90365be136e254ae6fd6bf939f53b3b	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, @DISEASE$, and renal and genital anomalies.	false
+2e8434cc7d5531223279e883ef081d1184b53411	McKusick-Kaufman syndrome comprises hydrometrocolpos, @PHENOTYPICFEATURE$, and congenital heart defects and overlaps with @DISEASE$, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+8db97bb824d2e3e325f70d8eb289b083f983674e	McKusick-Kaufman syndrome comprises hydrometrocolpos, @PHENOTYPICFEATURE$, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, @DISEASE$, and renal and genital anomalies.	false
+bbb3f71e59329303de64a2dd9b52d01eb68714f8	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, and renal and genital anomalies.	false
+f2a23a2346cb258ed8909eef03b847c45bce80a9	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with @DISEASE$, comprising retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, mental retardation, and renal and genital anomalies.	false
+77b4f56950f0ec14316f77910c851a19d7dc8873	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising @DISEASE$, polydactyly, obesity, mental retardation, and renal and @PHENOTYPICFEATURE$.	false
+9c8d1eed579002470e6795f6da45c92bf9345ab5	@DISEASE$ comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and @PHENOTYPICFEATURE$.	false
+4c8d823bb3a8637861e0e2488fb5287964b5487d	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and @PHENOTYPICFEATURE$ and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, @DISEASE$, and renal and genital anomalies.	false
+cc1e88cb9af9310b78b67d6ee953b3cfbcdd3677	@DISEASE$ comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, mental retardation, and renal and genital anomalies.	false
+4b99a29c1585750fe50781812378dc72dbd03289	@DISEASE$ comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and renal and genital anomalies.	false
+50393357f9ffb80fcbdae9e10646ad740d92d265	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and @PHENOTYPICFEATURE$ and overlaps with @DISEASE$, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+a33afd52bd75960299b90745b2b1f807a930ad27	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and @PHENOTYPICFEATURE$ and overlaps with Bardet-Biedl syndrome, comprising @DISEASE$, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+44f6700815275aaa4cf4a2dfef3278c39d741163	McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with @DISEASE$, comprising retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and renal and genital anomalies.	false
+4c4f22327185abd40747309efd3feefc7454a476	Multiple acyl-Co A dehydrogenation deficiency (@DISEASE$) in a boy with nonketotic hypoglycemia, hepatomegaly, @PHENOTYPICFEATURE$ and cardiomyopathy.	has_symptom
+2bc32087ad233024cd8a8a267c99e08eee19b6b2	The etiology of cirrhosis in patients was: alcohol 13, @DISEASE$ 3, hepatitis B 2, Budd Chiari syndrome 2, alcohol plus hepatitis B 1, hepatitis C 1, cardiac @PHENOTYPICFEATURE$ 1, Wilson's disease 1 and cryptogenic 1.	has_symptom
+6b3c6548c172757de2eadf4de472d5f354f1d5b9	No patients in group 1 had marked bridging fibrosis or @PHENOTYPICFEATURE$, compared with 4 of 10 patients in group 2. Minocycline-induced @DISEASE$ is usually identical to sporadic autoimmune hepatitis.	has_symptom
+2e71c78ac51113ed8eb41d4651a1a5c0f8312c68	No patients in group 1 had marked bridging fibrosis or @PHENOTYPICFEATURE$, compared with 4 of 10 patients in group 2. Minocycline-induced autoimmune hepatitis is usually identical to sporadic @DISEASE$.	has_symptom
+ad67f93837408a4dd3914c199b2625b75bd78653	Twenty-nine patients had hepatitis C virus infection; 4 patients, hepatitis C virus infection and alcoholic liver disease; 4 patients, alcoholic liver disease; 4 patients, cryptogenic @PHENOTYPICFEATURE$; 13 patients, primary sclerosing cholangitis; 5 patients, @DISEASE$; and 3 patients, primary biliary cirrhosis.	has_symptom
+52999d0e9f11510aa6667075a603c3fe55825227	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$, anemia, and a positive Coombs test.	has_symptom
+4f74361bca48a50c2e9519970d71facff8e31179	A case of @DISEASE$ associated with hyperglobulinemia, @PHENOTYPICFEATURE$, and a positive Coombs test.	false
+7af16d2ce61b7d388558796c543b74ffe3fee27d	A case of mu heavy-chain disease associated with @DISEASE$, @PHENOTYPICFEATURE$, and a positive Coombs test.	false
+f65f04ff39254e3b8efe13721633301c78e9b53b	@DISEASE$ is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and @PHENOTYPICFEATURE$, such as cerebellar ataxia, extrapyramidal signs and dementia.	has_symptom
+30c16049853b9d80370df65621b3814088587bee	@DISEASE$ is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as @PHENOTYPICFEATURE$, extrapyramidal signs and dementia.	false
+23641bcb28e53e7118ee67f0a695d93ff87abd82	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as @PHENOTYPICFEATURE$, extrapyramidal signs and @DISEASE$.	false
+eae1278710b65aab7c603369453a91084d4a96fe	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by @DISEASE$, retinal degeneration and neurological abnormalities, such as @PHENOTYPICFEATURE$, extrapyramidal signs and dementia.	false
+dd59e234de3d1c0f6383c8140665ad7334f917f5	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and @DISEASE$, such as @PHENOTYPICFEATURE$, extrapyramidal signs and dementia.	false
+2b6d371f2eadb4344328e9e5b19417b59ea73d16	Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, @DISEASE$ and neurological abnormalities, such as @PHENOTYPICFEATURE$, extrapyramidal signs and dementia.	false
+0f09d2c1d07835269a7d680ebe47327138f3941d	Aceruloplasminemia is a rare @DISEASE$ first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as @PHENOTYPICFEATURE$, extrapyramidal signs and dementia.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+97076e96e4e27171aa4d8dc514057ad4803aad29	HPVD in patients with the various @PHENOTYPICFEATURE$ was similar for those groups with @DISEASE$ and those without, when HPVD was considered as a function of the patients' age and the type of malformation.	has_symptom
+6ee300cf704bf5a32117db829b5240af1fb2dbac	This unexpectedly high percentage of Down's syndrome associated with such an unusual @PHENOTYPICFEATURE$, albeit among a small population, is likened to the currently recognized and similar association of @DISEASE$ and atrioventricular cushion deformities.	has_symptom
+bea70204691429b84b61c03c406556aabf9a3d03	Chondrosarcoma is the second most frequent primary @DISEASE$ @PHENOTYPICFEATURE$ of the bone.	false
+bdeceff190911ee81ce2209873c43ddd7ae456c8	@DISEASE$ is the second most frequent primary malignant @PHENOTYPICFEATURE$ of the bone.	false
+261d779ffcb8c156faff3c5b332653bc3edfeb16	@DISEASE$ (TCS) is a rare, @PHENOTYPICFEATURE$ disorder characterized by craniofacial deformities, and is primarily caused by mutations in the Tcof1 gene.	has_symptom
+7e63a3d3f63fc520713b92615524e5f0d0295881	Eight children with @DISEASE$ (mean age 8.0 +/- 2.8 years; range 5-13 years) were included; all patients had unilateral eye disease and were initially misdiagnosed as having bilateral @PHENOTYPICFEATURE$ or amblyopia, with best corrected visual acuity < 6/60.	has_symptom
+4e8a9d97bf9ab437db2b71928c9c29559baa4da3	In the remaining positive group of patients, further investigations disclosed the following abnormalities: urinary tract infection (48.4%), isolated @PHENOTYPICFEATURE$ (43.9%), chronic renal failure (1.6%), renal tuberculosis (1.6%), and other diagnoses 4.3% (kidney stones, 1.3%; diabetic nephropathy, 1%; @DISEASE$.9%).	has_symptom
+e932b64a1bece032d4b342400228edb2bac84221	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @PHENOTYPICFEATURE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	has_symptom
+9380b9aa35753003fc5327fc98202ebbdf02e53e	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+56162b423b9f8eb89a17926b9e906b283b680eba	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+850c5b851fef6622e583daa0e9ff2f6b795fb120	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+b65d54061a54e0e23bb025091aa273c100ac2a16	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+94520b6a0e89cc3943e772ae41567c559f248499	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+6c05c53d7ba6894d91129e5c5c1c487b301afbc4	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+1f2d2fe921eb3975b2e2b06d6d0c2a7ae39bc608	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, @DISEASE$, small nose and full cheeks).	false
+6e3d2f0089af4dfb5092b24050bbfdbc4d676067	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+628c01a3183cf0971e391da67f5a5f9983dc816b	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+6b805a449a5547e6269a91d0961ff4ae800eb115	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, @DISEASE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+a4c8e386a2ced926aea8e20d2bd11bb065fc0d00	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple @DISEASE$ syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+161fec48959002641d9a56bfa15f4a3cad8a1f21	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly @DISEASE$ characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+2aa5ea6ed7f58223f26fd8f9a3baf100f0873f4d	@DISEASE$ (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of @PHENOTYPICFEATURE$, cardiac defects, cleft palate/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+31e2c834d7a9fdc4defca0b8eb78b027a9f87862	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, @DISEASE$, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, telecanthus, small nose and full cheeks).	false
+c0f7c616badb6dd9571b6cb9aed7372e7b4ee846	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, cleft palate/Robin sequence, hypotonia, @DISEASE$, postnatal growth retardation and distinctive facial dysmorphology (including @PHENOTYPICFEATURE$, telecanthus, small nose and full cheeks).	false
+4fcd7c593b856b7bd04072f569d74ab677772cfe	@DISEASE$ (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, @PHENOTYPICFEATURE$, postnatal growth delays, cardiac defects, limb anomalies and genitourinary defects in affected males.	has_symptom
+a409ffe776a2869dee047bf4246dda557695c7fe	Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor @DISEASE$ dysmorphisms, mental retardation, postnatal @PHENOTYPICFEATURE$, cardiac defects, limb anomalies and genitourinary defects in affected males.	false
+0711b88d873fca90777bbe6acb7ebff8eee28a0a	Toriello-Carey syndrome (TCS) is a multiple @DISEASE$ syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, @PHENOTYPICFEATURE$ and genitourinary defects in affected males.	false
+9b96f2cd1231db11b0ae4b63668b21f428ec9b02	@DISEASE$ (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, @PHENOTYPICFEATURE$ and genitourinary defects in affected males.	false
+bd90cd32e4e116e83a46876c219345dba9121399	Toriello-Carey syndrome (TCS) is a multiple @DISEASE$ syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal @PHENOTYPICFEATURE$, cardiac defects, limb anomalies and genitourinary defects in affected males.	false
+5fbee9e4078aa3e023e7dfa4c643d61954f7c789	Toriello-Carey syndrome (TCS) is a multiple congenital anomaly @DISEASE$ of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, @PHENOTYPICFEATURE$ and genitourinary defects in affected males.	false
+bb356fe4746aa68e3e5c4ddd1ca6d1873faba899	Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, @DISEASE$, postnatal growth delays, cardiac defects, @PHENOTYPICFEATURE$ and genitourinary defects in affected males.	false
+08a1faf45a98cc6bbdc7e85de57bace09ff84065	@DISEASE$ (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal @PHENOTYPICFEATURE$, cardiac defects, limb anomalies and genitourinary defects in affected males.	false
+bd06d1df2eb677d9dda7fc690243edc264c707db	Toriello-Carey syndrome (TCS) is a multiple congenital anomaly @DISEASE$ of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal @PHENOTYPICFEATURE$, cardiac defects, limb anomalies and genitourinary defects in affected males.	false
+fad7e6682166f57dbea3d985a522e2d200f0222a	Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, @DISEASE$, postnatal @PHENOTYPICFEATURE$, cardiac defects, limb anomalies and genitourinary defects in affected males.	false
+426bb1cfd1b4af6060b22c64c8503ed245f1a761	Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor @DISEASE$ dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, @PHENOTYPICFEATURE$ and genitourinary defects in affected males.	false
+78c96adece7191d5ee8f3c7f560b95c98c0d24e6	These disorders are: @DISEASE$ (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight @PHENOTYPICFEATURE$, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	has_symptom
+19b68dfa47c6e8b9b4f4979a59992ba858008afd	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and @DISEASE$.	false
+17e79bc2b5772dfaf621ae85affe0bdabf61ff53	These disorders are: @DISEASE$ (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+2ffc102d90a07ab736fd2bbe464410de58d6214c	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic @DISEASE$ and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+6fbea2372133f1985d7e22f0d2bf6e2ce0e54283	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight @DISEASE$, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+8afe4ad542715e72f6362217bc5a181feb264dc3	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, @DISEASE$--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+2a20f0ccd760b9ad5dfb14610e0a64b7acaf5857	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (@DISEASE$, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+eb546542e52ac85568901ca48f4e0e01da153e57	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, @DISEASE$, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+8f0237735fc9d2fd368a5dc008502e7d35ec8523	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular @DISEASE$, and Johanson-Blizzard syndrome.	false
+8f9e14d63ce7a1ecc05d3fc0d365ab4de8a90d38	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital @DISEASE$ with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+8ea524b5317052956e26cb03e00744dd27001e46	The central nervous system (CNS) dysplasia in WWS, which involved diffuse agyria and @PHENOTYPICFEATURE$, was more severe than that in @DISEASE$.	has_symptom
+d45666c82e29141fbcf5ba9d035e9f38f39684da	A case of Fukuyama-type congenital muscular dystrophy (@DISEASE$) associated with @PHENOTYPICFEATURE$ was reported.	has_symptom
+d79b2141761e2140a6e3d202c8e8d687fdb2d320	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	has_symptom
+a6bcaf03b70c91740cbfc8fc182f682eabb20f9a	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+fd514de9eea9b8f75cf8bc75f7a87805988828dd	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+f5c28a0e4618b5bdd9a067d099d9e22a013c73bc	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+5677cc734d51b053fbf8c8e6c4547a2330ef9473	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+71ecad4a444ae560e3831edb5d76c8cb27886eda	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+ac0568072ae949bd785dcecb31cfee0e0804b50f	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) @DISEASE$, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+a35d40397db6b3b3b7c955e480c7301eb137d542	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) @DISEASE$, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+43ecf7acdfdf2bded310390832eb02525254940f	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+15381f9367bb7e7442afc1e2dde46d3c01854c8f	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and @DISEASE$) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+c4f47c6df30c5259f7d2177e33b1899202ff6079	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and @DISEASE$) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+f3c957dbc420f7401e1d4c76f7d46c1889bf49ee	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, @DISEASE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+266500db25fa3ee0600739171056c32764319a36	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (@DISEASE$).	false
+f21ebdf6d978ed2ad45f559b17d67896fa6127dd	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @DISEASE$, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+bffaf9de425976917febe78b26526a6f985a044d	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, @DISEASE$ and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+e077fe32d55e0891815cccd67e3cf50c77460327	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, @DISEASE$ and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+048d14472385ca7758637ced636587db93e2f82b	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (@DISEASE$).	false
+4cf9416e1751d5afe8751de96a1492904b7dd0f4	The neurological deficits were as follows: abnormal tone and @PHENOTYPICFEATURE$ were present in all of them with exceptional of a single patient with @DISEASE$ who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or dystonic movements of limbs in 22 patients, seizures in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	has_symptom
+70fa9d45b36063f0ec8c4cd52ca2e0f88217b673	The neurological deficits were as follows: abnormal tone and spasticity were present in all of them with exceptional of a single patient with MIH who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or @DISEASE$ movements of limbs in 22 patients, @PHENOTYPICFEATURE$ in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	false
+76f3790f405912e0ba5360fdafbdfc8f2834dd3d	The neurological deficits were as follows: abnormal tone and spasticity were present in all of them with exceptional of a single patient with @DISEASE$ who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or dystonic movements of limbs in 22 patients, @PHENOTYPICFEATURE$ in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	false
+f23f2c9e9a9d1dabe3020030f3cd8f5bac13905b	The neurological deficits were as follows: abnormal tone and @DISEASE$ were present in all of them with exceptional of a single patient with MIH who presented with hypotonia and was able to walk independently at the age of 3 years, athetoid and/or dystonic movements of limbs in 22 patients, @PHENOTYPICFEATURE$ in twelve patients (50%) and abnormal EEG in 15 patients (62.5%).	false
+96bcf764819878c61ad211c94bb4d761273aee76	In 22 patients (17%), the disease was diagnosed on the basis of the ocular findings, while in the remaining 107 patients (83%), the period between the diagnosis of @DISEASE$ and the onset of the ocular symptoms was 23.3 +/- 17 months (range, 1 month to 5.3 years); 122 eyes (53%) had the episodes of acute recurrent iridocyclitis, while 108 eyes (47%) developed chronic posterior uveitis, including vitreitis, retinitis, @PHENOTYPICFEATURE$, or optic nerve involvement.	has_symptom
+ed657745a0dbd10818edb8723121ce7ae7e6bf12	The lupus anticoagulant was found in the plasma of 31 of 60 patients with systemic lupus erythematosus and other connective tissue disorders (mixed connective tissue disease, systemic @PHENOTYPICFEATURE$, polyarteritis nodosa, primary sicca syndrome, discoid lupus, @DISEASE$, and systemic sclerosis).	has_symptom
+d5a00baebcb826a3c96357212b28a6a26abf559e	@DISEASE$ complicated with three malignant @PHENOTYPICFEATURE$: a case report and whole exome sequencing analysis.	has_symptom
+410b88c5155230864e2f6e86d879fca25638acb7	Histologically, the rectal @PHENOTYPICFEATURE$ was composed of well-differentiated tubular adenocarcinoma, admixed with foci of adenomatous components, and associated with hyperplastic mucosa of @DISEASE$.	has_symptom
+f227e61ca9e10525ef01b0568c0b534b6a6c7f54	All patients presented with skin or soft tissue nodules, @PHENOTYPICFEATURE$, and constitutional symptoms, and were diagnosed with @DISEASE$ based on the characteristic morphologic and immunophenotypic features of the subcutaneous lesions.	has_symptom
+fc4eaf4354d195c4e1190378673e5c85592c488b	A 24-year-old woman with aggressive @DISEASE$ associated with @PHENOTYPICFEATURE$, arthralgias, lymphadenopathy, mild anemia, and widespread painful lesions refractory to multiple treatment strategies exhibited intense uptake of a glucose analogue at sites of clinically apparent (and clinically imperceptible) disease.	has_symptom
+0360ea40e6ccf05b15e8dc4417e37eae1b26f479	Twelve @PHENOTYPICFEATURE$; 4 malunion femeral neck fracture, 4 congenital coxa vara, 2 spondyloepiphyseal dysplasia and 1 @DISEASE$ were operated on in 11 patients.	has_symptom
+7c28216696403a7f6bf19cdd9efb1bc052ec393b	Twelve coxa vara; 4 malunion femeral neck fracture, 4 congenital @PHENOTYPICFEATURE$, 2 spondyloepiphyseal dysplasia and 1 @DISEASE$ were operated on in 11 patients.	has_symptom
+70de334b0510a1bedb891a321286bd51ade14c34	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$ and postnecrotic cirrhosis, diagnosed at birth as having @DISEASE$, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia.	has_symptom
+69a570e3328eb84c81b3fc34b9b536f63043e1de	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having @DISEASE$, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of @PHENOTYPICFEATURE$.	false
+7d05537906d593c9c887b03004dededcc2c9989b	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having @DISEASE$, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia.	false
+59a72327beedf43a95741b7bc70f82093b66412f	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, @DISEASE$ and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of @PHENOTYPICFEATURE$.	false
+4d7bbbbeff6e6797c001ea44d6e683d31442c166	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, @DISEASE$ and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia.	false
+b630538a424abc39053c2bb65daf7e8c07d51c2c	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, @DISEASE$ and postnecrotic @PHENOTYPICFEATURE$, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia.	false
+2ef1c36aae89c0c78de094199f3f97142cb98613	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic @PHENOTYPICFEATURE$, diagnosed at birth as having @DISEASE$, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia.	false
+a68143630da62486a9c4a6b1c17e5d7e0367dda2	[Dermatofibromas, elastomas and @PHENOTYPICFEATURE$: a new case of the @DISEASE$].	has_symptom
+a4ffb6c776eaae2e6d9b68c96a265fd849757f4b	When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, @PHENOTYPICFEATURE$, and depressed nasal root may suggest @DISEASE$.	has_symptom
+53baee659bb46dc90ab00324a4136a0c688e26b0	When polyhydramnios is observed, additional fetal findings such as overlapping fingers, @PHENOTYPICFEATURE$, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest @DISEASE$.	false
+7b6f663f3612ff7b6b724091eed3b490011e8adc	When polyhydramnios is observed, additional fetal findings such as overlapping fingers, @PHENOTYPICFEATURE$, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, @DISEASE$, and depressed nasal root may suggest Schinzel-Giedion syndrome.	false
+cf752493724331b0666ca37f64d06b36a4f60976	Postnatally, in keeping with a diagnosis of @DISEASE$, there were large fontanelles, @PHENOTYPICFEATURE$, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck.	has_symptom
+029afdfd8358ed2e69b9040b807b6b52eb5a93f1	@PHENOTYPICFEATURE$ and hypocretin deficiency in @DISEASE$.	has_symptom
+e708d1150963a86639d1b7ca7e49e72f16ba28c7	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	has_symptom
+da30da1a3c74340e0a377f3ca62e4eb22b39e6ec	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+2a0f7e3ae1115fbb7fc611a2e8da44207ccc46f1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+58d0e2da62232cf43f44258386198e69c3924475	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+d9c4ad73c32918df32f4f3684885943eabcf39b6	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+0ec7515d1df5894b97f1da8feb3ee12f0abee4ee	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+9658eb372c94ad97f8ab4d162de7a0cb88c5ad93	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with @DISEASE$ and deafness.	false
+abf21d8d62777f9406ddeb1bfa0d6f4f848c772f	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+48c05dcb3e81f40df1fdfac1b3541a1aa39c3081	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a3c19dc172e775030057384010cf76ca68c37e78	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+caaf3c03de819e53eb0a3ebf59b98572f420d483	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+e5740891bc699678043e4774f56e6de89e9f9c59	@DISEASE$ is associated with multiple and complex congenital @PHENOTYPICFEATURE$.	has_symptom
+25d9839b557162ef529e7976c82419a7327928cd	In @PHENOTYPICFEATURE$, association of omphalocele with @DISEASE$ has been rarely noticed before.	has_symptom
+ea644247808335f04206acfbc730686657afdf00	@DISEASE$ is a rare @PHENOTYPICFEATURE$ in which the heart is located in the right hemithorax.	has_symptom
+6035366819f5bc5c7159e38289bcfffc1a6bc86d	The clinical data of 27 cases of congenital isolated @DISEASE$ were collected to understand the diagnostic approaches to the major @PHENOTYPICFEATURE$.	has_symptom
+f2ff83a93ae007a95fd4f422f8d6fb8dec9efae1	Tetralogy of Fallot is one of the most frequently diagnosed congenital @PHENOTYPICFEATURE$; however, its association with @DISEASE$ and situs inversus is reported only rarely.	has_symptom
+f3ddf5dbfedf3ced1f1b8b2162e1e9907658d6fb	Multiple @PHENOTYPICFEATURE$ with @DISEASE$ and situs inversus.	has_symptom
+92fede3eb5eaf688b1f680bf2d8678d165de7301	Situs inversus with @DISEASE$ and Lutembacher syndrome is a rare @PHENOTYPICFEATURE$.	has_symptom
+61c2f87f6f2ad72bca13a58fb5b2f1955372081d	@DISEASE$ is a rarely seen cardiac malposition, often associated with multiple and complex congenital @PHENOTYPICFEATURE$.	has_symptom
+5d010cb9a86b8ed4222d92d0d43d767f774b1d9a	[Correction of @PHENOTYPICFEATURE$ in @DISEASE$ and complete situs inversus of the abdominal organs].	has_symptom
+560c1310c93857e98f92730631407bfbf79caa9e	It is usually in association with @DISEASE$, hypoplasia of right lung, and @PHENOTYPICFEATURE$.	has_symptom
+d5cf1cdd9b01ab35c44d4389537208e6a57d0139	@DISEASE$: report of a case with cleft palate, distally placed thumbs and @PHENOTYPICFEATURE$.	has_symptom
+089bd2e8cace1ecdff57534f434627b9031e4bf2	@DISEASE$: report of a case with @PHENOTYPICFEATURE$, distally placed thumbs and vertebral anomalies.	false
+903677f5086f683d5fccc8e7cc7a70d191793a48	Juberg-Hayward syndrome: report of a case with @PHENOTYPICFEATURE$, distally placed thumbs and @DISEASE$.	false
+3fb3e5b665e21d0c270ba76492d618214b557188	A history of contact with flood water had a sensitivity of 100%, and the presence of conjunctival suffusion, @PHENOTYPICFEATURE$, and skin rash had a specificity of 97%, 86%, and 97%, respectively, for identifying children with @DISEASE$.	has_symptom
+324c211c5144d0ab53fcffa93455086728bbbdef	Congenital or developmental cervical kyphosis is a serious orthopaedic abnormality, which is associated with several syndromic associations such as Larsen syndrome, @DISEASE$, chondrodysplasia punctata, @PHENOTYPICFEATURE$ dysplasia, and neurofibromatosis.	has_symptom
+79d0a224880e2e73df3ab1bacdb454b38a5cbf1d	An 8-months-old male infant with a mutation in the polyadenylation site of FOXP3 gene, absence of FOXP3 protein expression and clinical manifestations of @DISEASE$ syndrome, including eczema, colitis, @PHENOTYPICFEATURE$, TPN requirement, and elevated serum IgE, underwent matched unrelated hematopoietic stem cell transplant.	has_symptom
+f69ddc80e8228f19862add3d117b901593ef6db3	@DISEASE$ (RTA) is a rare cause of @PHENOTYPICFEATURE$, therefore it is uncertain whether routine screening with blood gas analysis of short infants and children is cost-effective.	has_symptom
+ee753bbf0c9c50d371db362cf0439fb4e83e17ab	@DISEASE$: diagnostic work-up treatment and mechanisms of @PHENOTYPICFEATURE$.	has_symptom
+7f5c3731332f22e640bd2a462306e7c84bf97d71	Classic (type I) @DISEASE$ in children in attended by @PHENOTYPICFEATURE$ and rickets, abnormalities that can be corrected by alkali therapy alone.	has_symptom
+3d8e166404efae6adb264890a0141c7e93a44920	Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by @DISEASE$, osteopetrosis, recurrent bone fractures, renal stones, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+ead5fe7b5b04c2d5bc6b3f616dbb57c185e84369	Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+46afdb5cb31b926287daae7266f7e65f4159e0f8	Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by @DISEASE$, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and @PHENOTYPICFEATURE$.	false
+cda42a2cf0272f8e69c2e3a1db28bbcd3fe97417	Carbonic anhydrase II (@DISEASE$) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and @PHENOTYPICFEATURE$.	false
+4f323f5560b3f6a5b659322ad88bb38efd940383	However, systemic acidosis is not always evident and @DISEASE$ can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as @PHENOTYPICFEATURE$ and rickets in children, or short stature and osteomalacia in adults.	has_symptom
+0d8fa211167821e515ac4c4dd4655f4b068cf155	However, systemic acidosis is not always evident and renal tubular acidosis can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as growth retardation and rickets in children, or @PHENOTYPICFEATURE$ and @DISEASE$ in adults.	false
+1d5e4296c68ab53c947605ebd50f38391da4511b	However, systemic acidosis is not always evident and renal tubular acidosis can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as @DISEASE$ and rickets in children, or @PHENOTYPICFEATURE$ and osteomalacia in adults.	false
+a551debdaf4a69cc85fd2810a49ada741c4c4c78	However, systemic acidosis is not always evident and @DISEASE$ can present with hypokalaemia, medullary nephrocalcinosis and recurrent calcium phosphate stone disease, as well as growth retardation and rickets in children, or @PHENOTYPICFEATURE$ and osteomalacia in adults.	false
+9da62cce27f5b17588612f4cfcb8e858829151d9	@PHENOTYPICFEATURE$ is a cardinal feature of children with @DISEASE$.	has_symptom
+f3440e53155d0a370a5f9a41ec74a7fdd0cc0931	The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder characterised by mental and @PHENOTYPICFEATURE$, renal rickets with @DISEASE$, generalised aminoaciduria, hypotonia, cataracts, glaucoma and frontal bossing.	has_symptom
+878e2a08f4c82f4a1f6e44040c620823367099fa	The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder characterised by mental and @DISEASE$, renal rickets with renal tubular acidosis, generalised aminoaciduria, hypotonia, @PHENOTYPICFEATURE$, glaucoma and frontal bossing.	false
+5771716e63045a2fd1be45fed15d568e3d7dcb67	The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder characterised by mental and growth retardation, renal rickets with @DISEASE$, generalised aminoaciduria, hypotonia, @PHENOTYPICFEATURE$, glaucoma and frontal bossing.	false
+2efc036f382e6676aea80396e5ddf01e78a6752f	We report here a new patient with hawkinsinuria having experienced a series of admissions because of unclear hepatopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+77fb7ea67ad6a1405ae4b74cce544ce83397da62	Both have severe @PHENOTYPICFEATURE$, peculiar facies, pulmonic stenosis, transitory @DISEASE$, and vitamin D-resistant rickets.	has_symptom
+305c97fa7ea8c3cc22ad6cf0c403a336adb23be4	Oculopharyngeal muscular dystrophy (@DISEASE$), a late onset autosomal dominant @PHENOTYPICFEATURE$, is common among the French-Canadians and the Jews from Bukhara (Uzbekistan); most clinical histologic and genetic data published until now, as well as the recently suggested diagnostic criteria, are based on studies among the former.	has_symptom
+a6bae5fd40ee5ea0bfd808d3f444f2d7a143030f	@DISEASE$ (OPMD), a late onset autosomal dominant @PHENOTYPICFEATURE$, is common among the French-Canadians and the Jews from Bukhara (Uzbekistan); most clinical histologic and genetic data published until now, as well as the recently suggested diagnostic criteria, are based on studies among the former.	has_symptom
+9767501ca95a0724e479e1a8a93b950a916436ba	@DISEASE$, other ocular @PHENOTYPICFEATURE$, and progressive external ophthalmoplegia.	has_symptom
+d416ec562a8c49540f37efa2027b2ad270e31acb	Mutations in the cadherin 23 gene (CDH23) cause @DISEASE$ in humans, a disease that results in retinitis pigmentosa and @PHENOTYPICFEATURE$.	has_symptom
+2277843541885cad1fe58a4b30737275d088c3f9	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, vestibular dysfunction, and visual impairment).	has_symptom
+42b18daabee751a2e8a59b64e68e42fcc2792a57	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment).	has_symptom
+f9590441d452ecb5c10069137cb0098d3e68556f	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+81e2ee8352330bf77401085f482cd3d7dcc45285	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by @DISEASE$, @PHENOTYPICFEATURE$, and visual impairment).	false
+0f8e1c461306dfa5e72c797de14f0cd426231054	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	false
+4384ca5ca63d19f9a30300c3e02a78a66dd595f4	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by @DISEASE$, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+32bf4c3b14f6e73acac6996f91751c71f19d4045	Mutations in the human cadherin 23 (CDH23) gene cause @DISEASE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	false
+ede2c41a8a4d8cda37876266e9a6951fc3a3a090	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+c0a4f7632ad847f5698d8ac300b29e7406c2055e	Mutations in the human cadherin 23 (CDH23) gene cause @DISEASE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+c621d6cfc91b7f0f1081f7de02c95b6467751b44	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	false
+d00386411473d7b2bffbd8893427c2d1868a7e6a	Truncating mutations in the cadherin-23 gene (CDH23) result in @DISEASE$ (USH1D), whereas missense mutations affecting strongly conserved motifs of the CDH23 protein cause non-syndromic @PHENOTYPICFEATURE$ (DFNB12).	has_symptom
+215e4fa78f0f951058128995260db2fd529220bc	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and prepubertal onset of progressive retinitis pigmentosa.	has_symptom
+f747a8b5abdafd71e25c6e8b1559e2e607b6b63f	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by @DISEASE$, @PHENOTYPICFEATURE$, and prepubertal onset of progressive retinitis pigmentosa.	false
+aa222bf19b087e39210c553f9a620f85b690ec07	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by congenital deafness, @PHENOTYPICFEATURE$, and prepubertal onset of progressive @DISEASE$.	false
+0249d04b6f0d58d49b4bbf24b92ee6a71b8544cc	The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for @DISEASE$, which is characterized by congenital deafness, @PHENOTYPICFEATURE$, and prepubertal onset of progressive retinitis pigmentosa.	false
+8244913520f63ba1cd4f99274825cf7403b77757	Likewise, linkage studies in Pendred syndrome and @DISEASE$ suggest that allelic mutations can cause syndromic and non-syndromic forms of @PHENOTYPICFEATURE$.	has_symptom
+56e8bf54bab1eecc906b3b1d688c11cce766cadb	@DISEASE$, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-@PHENOTYPICFEATURE$ localization, DFNB12.	has_symptom
+aae6f0fbaf9157a2f2e51ba4128893dbb85d0fa8	CDH23 null alleles cause @PHENOTYPICFEATURE$-blindness (@DISEASE$; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12).	has_symptom
+c288a8b931f9de5a9666c56144a09043f9282bb3	CDH23 null alleles cause deaf-blindness (@DISEASE$; USH1D), whereas missense mutations cause nonsyndromic @PHENOTYPICFEATURE$ (DFNB12).	has_symptom
+6cf2acc698e0f569e2d48de7488ce26689043420	CDH23 null alleles cause deaf-@PHENOTYPICFEATURE$ (Usher syndrome type 1D; USH1D), whereas missense mutations cause nonsyndromic @DISEASE$ (DFNB12).	false
+924d94dcc81dc9d3f987932eddf4bd59d95461eb	CDH23 null alleles cause deaf-@PHENOTYPICFEATURE$ (@DISEASE$; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12).	false
+fb789e26f69183c1a891747cb16fbe569578cd4c	CDH23 null alleles cause @DISEASE$-@PHENOTYPICFEATURE$ (Usher syndrome type 1D; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12).	false
+04835ae3e2fff1cf5fe5ecdff4272c3b09c72ca3	av had been discussed as a potential mouse model for the human @PHENOTYPICFEATURE$ loci @DISEASE$ (USH1D) and DFNB12.	has_symptom
+1c2d97f10f8111fd03fa4e8ab328528341a49dbb	In humans, mutations in the PAX2 gene cause @DISEASE$ that is characterized by kidney abnormalities, optic nerve colobomas and mild @PHENOTYPICFEATURE$.	has_symptom
+dfe9527cd05f73ee2a75521c033a1ab61af703eb	The common clinical feature of @DISEASE$ is @PHENOTYPICFEATURE$ and epilepsy suggesting main involvement of cerebral gray matter.	has_symptom
+2ccfcf3eed546f93ef110c97a59ee3e0ef33ff39	Brain @DISEASE$ are mainly associated to @PHENOTYPICFEATURE$ and autism.	has_symptom
+1baa10a95c505ede64ff8b1538298a7c125eabaa	Brain @DISEASE$ are mainly associated to mental retardation and @PHENOTYPICFEATURE$.	false
+d4d13711a12328d40cf0e548a7f0c2608539ce28	Brain creatine deficiency syndromes are mainly associated to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4dd19aecbafc0d54b10281c998380943492cbb11	Summary Brain @DISEASE$ cause @PHENOTYPICFEATURE$ that can be prevented if therapy is initiated early in life.	has_symptom
+5258832940511d72980f2c5196ab2d6353854d6e	The common clinical denominator of @DISEASE$ is @PHENOTYPICFEATURE$ and epilepsy, suggesting the main involvement of cerebral grey matter (grey matter disease).	has_symptom
+ddd75d59576fb3e07293b27f6a43d0c8059a32b8	Patients with @DISEASE$ present with global developmental delays, @PHENOTYPICFEATURE$, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder.	has_symptom
+f991df27fc620209eb07a87f8a9e26c846301abe	Patients with @DISEASE$ present with global developmental delays, mental retardation, speech impairment especially affecting active language, @PHENOTYPICFEATURE$, extrapyramidal movement disorder, and autism spectrum disorder.	false
+903c7d8d2b4a92a389a2e202639522a755887957	Patients with @DISEASE$ present with global developmental delays, mental retardation, @PHENOTYPICFEATURE$ especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder.	false
+af319ca73071bdfad62aac2571d17ccce8459756	Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9cfc94c2556e16b74371953221b793f80841baba	Patients with CDS present with global developmental delays, @DISEASE$, speech impairment especially affecting active language, @PHENOTYPICFEATURE$, extrapyramidal movement disorder, and autism spectrum disorder.	false
+b286d385f17e3427d7b3c51a1708474cec340494	Patients with CDS present with global developmental delays, @DISEASE$, @PHENOTYPICFEATURE$ especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder.	false
+ab26c1174db72a5fcb9b8686ef95a1b86cf1f923	Patients with @DISEASE$ present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal @PHENOTYPICFEATURE$, and autism spectrum disorder.	false
+aa6981ad08b88145f7c236d224960de1d667c8d2	Patients with CDS present with global developmental delays, @DISEASE$, speech impairment especially affecting active language, seizures, extrapyramidal @PHENOTYPICFEATURE$, and autism spectrum disorder.	false
+09a00fbccc076832481745dedf42ef3c29fd295b	Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, @PHENOTYPICFEATURE$, extrapyramidal movement disorder, and @DISEASE$.	false
+ebf00d51963a8874f17fc6029d8921e4e3950c6c	Patients with CDS present with global developmental delays, mental retardation, @PHENOTYPICFEATURE$ especially affecting active language, seizures, extrapyramidal movement disorder, and @DISEASE$.	false
+ebbe1863b7c635486f091679474ebc34bdc68c72	Patients with @DISEASE$ present with @PHENOTYPICFEATURE$ expressive speech and language delay, and epilepsy.	has_symptom
+3aad37d85e73a9b1f623ff29e612a25eb8dd35a3	Patients with @DISEASE$ present with mental retardation expressive @PHENOTYPICFEATURE$, and epilepsy.	false
+6884ce0cc9f29ae11c2c61248d156282510432a3	Patients with creatine deficiency syndromes present with @DISEASE$ expressive @PHENOTYPICFEATURE$, and epilepsy.	false
+2e22f0e2f5b1ea34f9b1c3a2e4ec0b1187a9955d	@DISEASE$ are caused by defects of endogenous creatine synthesis or transport and are mainly characterized by @PHENOTYPICFEATURE$, behavioral abnormalities, poorly developed muscle mass, and in some cases also muscle weakness.	has_symptom
+a8297f17ed4557c772ce6c4346e0424e31977959	@DISEASE$ are caused by defects of endogenous creatine synthesis or transport and are mainly characterized by intellectual disability, @PHENOTYPICFEATURE$, poorly developed muscle mass, and in some cases also muscle weakness.	false
+d1c460d3dc387f44cfc655c6b9cda22c8f46810c	Creatine deficiency syndromes are caused by defects of endogenous creatine synthesis or transport and are mainly characterized by @DISEASE$, @PHENOTYPICFEATURE$, poorly developed muscle mass, and in some cases also muscle weakness.	false
+c2b3e8c30ce7e6b9b30e75bdc66c63bdfe14b456	@DISEASE$ are a group of disorders of creatine (Cr) synthesis and transport characterized by @PHENOTYPICFEATURE$, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.	has_symptom
+05a2d0a12efb9a0991a4c8568399f1413fa71fd7	Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, @PHENOTYPICFEATURE$, epilepsy, autism spectrum disorder, and @DISEASE$ secondary to decrease of Cr concentration in the brain.	false
+3af5d4efdd61c568a2332638eb0c477631b2d9b3	@DISEASE$ are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, @PHENOTYPICFEATURE$, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.	false
+736f742ab8bd7c1239771c7895c3a70a273c5bf8	Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, and movement disorders secondary to decrease of Cr concentration in the brain.	false
+b715cb79a032ffc398c2ab723867205ecb9b499b	Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.	false
+5c7856c912c287c1289910b76e8f76a44ed052cd	Patients who are symptomatic from distant @DISEASE$ metastases (diarrhea, flushing, @PHENOTYPICFEATURE$, or bone pain) should be treated with somatostatin analogs.	has_symptom
+fac318a4c8137a485af1cbb8a5521b2edb422332	Here, SIM1 was sequenced in 44 children with @DISEASE$ features, 198 children with severe early-onset @PHENOTYPICFEATURE$, 568 morbidly obese adults, and 383 controls.	has_symptom
+30b92fe380d11bc24d2c047a2f04b2310efad6bc	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and @PHENOTYPICFEATURE$.	has_symptom
+26680ea57321e0e8ad6813fd529072b97dee5406	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, @PHENOTYPICFEATURE$, motor delay, precocious puberty and truncal @DISEASE$ as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+9d88277c9f66f623748b44c00c263eaf150929c2	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, @PHENOTYPICFEATURE$, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+020c8056272d7342e685f82aa09f65f8fd183ece	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and @DISEASE$.	false
+ed67bc10d5c5399808153e99e15c9f7345318250	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal @DISEASE$ as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+bead93092422efc229c0ca20e7b1ef91d8c51022	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, @PHENOTYPICFEATURE$, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and @DISEASE$.	false
+e950a4e1887e6fe888dce1f26b9199286664f27c	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+eacd8a69ab8da3862021d78c9c67a28c3024eeb7	Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for @PHENOTYPICFEATURE$ with or without features of @DISEASE$ syndrome.	has_symptom
+c23090268f6d45e1fc0e8cbd83327fba11b0b2ed	Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in @PHENOTYPICFEATURE$ and the @DISEASE$ phenotype.	has_symptom
+c8c286d74cfd34e8cf3b971684d2d0c98064be21	In humans, abnormalities in chromosome 6q16, a region that includes SIM1, were reported in obese children with a @DISEASE$; however, SIM1 involvement in @PHENOTYPICFEATURE$ has never been conclusively demonstrated.	has_symptom
+a06901c237de72c3891610e9d99442df8b7bd76a	Mental retardation, facial anomalies, @PHENOTYPICFEATURE$, cerebral angiomas, femoral nucleus necrosis: a new entity or @DISEASE$?	has_symptom
+f099b1fff2153159c96cd62f5b9341959d7e8929	@PHENOTYPICFEATURE$, facial anomalies, @DISEASE$, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?	false
+a46b3a413a51cda2dae2355325a329d25e5f9f3e	@PHENOTYPICFEATURE$, @DISEASE$ anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?	false
+164e2699941c9a5f0d4890345f5c31edbb77e948	@PHENOTYPICFEATURE$, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or @DISEASE$?	false
+f809f9fa2e495a11bc7960792ea289d2cb35b3a3	@DISEASE$ (SRPS) is a group of skeletal dysplasias manifested by @PHENOTYPICFEATURE$, short ribs with thoracic dysplasia and polydactyly.	has_symptom
+385eabe63090d329266ea11e59b990c6a5533ccc	@DISEASE$ (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and @PHENOTYPICFEATURE$.	false
+b2f698ff7ffaaf662fa27fd8ddcd3b76c2270110	Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by @DISEASE$, short ribs with thoracic dysplasia and @PHENOTYPICFEATURE$.	false
+9d3c5ea84b0bfc4638c3f0f69957f158d96618ec	@DISEASE$ (SRPS) is manifested by @PHENOTYPICFEATURE$, short ribs with thoracic hypoplasia, and polydactyly.	has_symptom
+6bf51fd3b219eceee54ae09dabe603cf7f264899	@DISEASE$ (SRPS) is manifested by short-limb dwarfism, short ribs with @PHENOTYPICFEATURE$, and polydactyly.	false
+553fce3bf9e3afa46fd68e63ac356a7404c2389b	@DISEASE$ (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and @PHENOTYPICFEATURE$.	false
+913f6fd0a9d900cca501c0a1c7f273b476a59853	Short rib-polydactyly syndrome (SRPS) is manifested by @DISEASE$, short ribs with thoracic hypoplasia, and @PHENOTYPICFEATURE$.	false
+6fce132acb586e9952daa0514d3b1b08ac9337ed	Short rib-polydactyly syndrome (SRPS) is manifested by @DISEASE$, short ribs with @PHENOTYPICFEATURE$, and polydactyly.	false
+dd0dd1661b358346d466e2fd76a8fbac379ec5eb	We present evidence for an overlapping phenotype with the @DISEASE$ and propose a unifying, descriptive label be adopted (polydactyly-@PHENOTYPICFEATURE$-kidney-eye syndrome).	has_symptom
+b5c203979e0eab57363e000b557ce8c3e57d0512	We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (@PHENOTYPICFEATURE$-obesity-kidney-eye @DISEASE$).	false
+c83ab8b4f310738625c6431626377b3b42ecbca8	We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (@PHENOTYPICFEATURE$-@DISEASE$-kidney-eye syndrome).	false
+cf4a31f7875de18200207a4dfa45613a6b564abf	We present evidence for an overlapping phenotype with the @DISEASE$ and propose a unifying, descriptive label be adopted (@PHENOTYPICFEATURE$-obesity-kidney-eye syndrome).	false
+7a42f8b1bac83abb9aabfdb28258ef3fa3bd1d3f	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	has_symptom
+dd145599dd14b30215ea74acd477b9f5aec4449b	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, @DISEASE$ retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+a30bd3536f276f868f916e78272b2b66df9342d8	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, @DISEASE$ retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+f43c76201df67d1994f7e3c75494aba2c9135c66	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and @DISEASE$ has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+bd12b57d816da79599658966421a7425a509f745	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+34548442313f6a569b63a782e4a83ca61422e180	The @DISEASE$ (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+b648774620f9f9f8228c1fc0d433b5050b5c44df	The @DISEASE$ (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+26ecacaf07a686f74385a3d877a53e6b08e9c2a4	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and @DISEASE$ has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+0dbfbbc1964d8d9a31b13bca0c95a98e50f1cccd	The Bardet-Biedl syndrome (@DISEASE$), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+c1e03401fe3afe1551b4ff60740600af9cd747ac	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+62b2dc79af1666eecba00993826dd91ff607e74e	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary @DISEASE$ and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+b47fea9a4c3b19f0b9d5a8d1c1bc2dacac602bd3	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	false
+b2bc8d28deeda4455f50a87bfdd324def87d5b1c	The Bardet-Biedl syndrome (@DISEASE$), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+3cb3ee38e0bf0444960dcc382dcc5021c31856f0	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary @DISEASE$ and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+7d746b97a2d1d21090edc6578cab4bc00a9d3e2c	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+9a19f6bb134ec1f4430fffaeca1e4ca40efddbb4	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (LMS) there is a considerable terminological confusion in the medical literature.	false
+75425ab574ecc2611e37f49715fb3abfe54bfcca	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	false
+790247960fb9d1336ff3fe75f5d1ae7f5005843e	@DISEASE$ as a distinct entity is rare and features paraplegia in the absence of polydactyly or @PHENOTYPICFEATURE$.	has_symptom
+34b90fda8aa3d3604164b7fa84e8e0048d80b1b0	@DISEASE$ as a distinct entity is rare and features paraplegia in the absence of @PHENOTYPICFEATURE$ or obesity.	false
+9a4b5cdf6a45c7337a7b9124649eb0042c6db044	Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of @PHENOTYPICFEATURE$ or @DISEASE$.	false
+1d78f792997ae769e66171028eb6acae2f99d4dd	Laurence-Moon syndrome as a distinct entity is rare and features @DISEASE$ in the absence of @PHENOTYPICFEATURE$ or obesity.	false
+8fb30abd84f181039d4f4cacd027a6266b94fb30	The historically associated @DISEASE$ includes spastic paraparesis but not the @PHENOTYPICFEATURE$ and polydactyly.	has_symptom
+243799dd41e65e5d6dcf951625dca7b16cc3334f	The historically associated Laurence-Moon syndrome includes spastic paraparesis but not the @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1025a3437591b863446c39fc4f3e2a4d52ff32dd	The historically associated @DISEASE$ includes spastic paraparesis but not the obesity and @PHENOTYPICFEATURE$.	false
+e6c9dba5fc49b0894df179b80b2c92c6deae8c5e	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+f6e937a0a87f69ec883eb4c4c9b086dc5e042db3	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+e678631a371bf0da2072ee18c98a8565db36a39a	Bardet-Biedl syndrome (@DISEASE$) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+9ce57a5090cf7276232a6f48049fbcaf71341ef4	@DISEASE$ (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+b3f287e290da9ba58f9dc137376ec514d15fc154	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (@DISEASE$) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+ec9797277fda5b62b08760de02b5e9398d1de5a7	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, @DISEASE$, and hypogenitalism.	false
+0008bfa52cd122dfee3e819b067f6a9c388d3727	Furthermore, being of @PHENOTYPICFEATURE$, doing repetitive work, working in awkward positions and being exposed to dust were significant risk factors in having @DISEASE$ among the workers in this study.	has_symptom
+395eddc0e0aae6c42629d30cd7a75b08544e0ad4	The dental phenotype of HED consists of various degrees of oligodontia with other @PHENOTYPICFEATURE$, and these are important in the early diagnosis and identification of persons with @DISEASE$.	has_symptom
+075b3721030f01dd1406bcc89adcf130bfaeeb88	The dental phenotype of @DISEASE$ consists of various degrees of oligodontia with other @PHENOTYPICFEATURE$, and these are important in the early diagnosis and identification of persons with HED.	has_symptom
+ce06c4fc8020dac425194e0185740168dd7355e5	@DISEASE$ (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and @PHENOTYPICFEATURE$.	has_symptom
+88fadfd92d53ef53c9d670af9fb0322d57cb427f	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and @PHENOTYPICFEATURE$.	has_symptom
+f99e8968d711486f889efb80f93afb95332594b0	@DISEASE$ (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and @PHENOTYPICFEATURE$.	has_symptom
+ae545618dcf12e39eb898be88fb20b3c8842109b	Hypohidrotic ectodermal dysplasia (@DISEASE$) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and @PHENOTYPICFEATURE$.	has_symptom
+896e60bee20652889ffacb5ffa5ef747b62e0c47	X-linked hypohidrotic ectodermal dysplasia (@DISEASE$) is a rare disease characterized by the hypoplasia or absence of eccrine glands, dry skin, scant hair, and @PHENOTYPICFEATURE$.	has_symptom
+98ad3ed3bb827fa36e19ef4ce9ca6b553fdafb78	We describe a patient with @DISEASE$, characterized by pituitary-dependent Cushing's Syndrome, marked @PHENOTYPICFEATURE$, primary hyperparathyroidism and hyperinsulinism leading to hypoglycaemia.	has_symptom
+c874559730db7ace8db2190d97fb96f921572a02	Hypohydrotic (Anhidrotic) @DISEASE$ is a rare hereditary genodermatosis characterized by a triad of defects including hypohidrosis @PHENOTYPICFEATURE$ and anomalous dentition.	has_symptom
+7e20fe52bb9e876368d6d277faddc63438cb4875	Hypohydrotic (Anhidrotic) Ectodermal dysplasia is a rare hereditary genodermatosis characterized by a triad of defects including @PHENOTYPICFEATURE$ @DISEASE$ and anomalous dentition.	false
+33b941420ac4d313f3ff5939c796bf93208e18f1	Hypohydrotic (Anhidrotic) Ectodermal dysplasia is a rare hereditary @DISEASE$ characterized by a triad of defects including @PHENOTYPICFEATURE$ hypotrichosis and anomalous dentition.	false
+d9cbcfde2b3cff90cc4c1904053dece16820a5fe	Hypohydrotic (Anhidrotic) @DISEASE$ is a rare hereditary genodermatosis characterized by a triad of defects including @PHENOTYPICFEATURE$ hypotrichosis and anomalous dentition.	false
+77892652c4b994033cf7779bd837682efb5e8cc4	[@DISEASE$ with hypohidrosis, @PHENOTYPICFEATURE$ and hypodontia].	has_symptom
+cbc5985ad2e4ea3e4e5963bbc6633d55f18dc207	[Ectodermal dysplasia with @DISEASE$, hypotrichosis and @PHENOTYPICFEATURE$].	false
+a9bbcb587b023fae0824826ca488ab1f23d3b355	[Ectodermal dysplasia with hypohidrosis, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+fbc375a74a2022861a60325f8e16c2ecb4a80592	[@DISEASE$ with hypohidrosis, hypotrichosis and @PHENOTYPICFEATURE$].	false
+9a48617d8e35508dea2a5879aa8fac0c56d140a9	Hypohidrotic ectodermal dysplasia is a common variation of @DISEASE$, characterized by hypohidrosis (or anhidrosis), @PHENOTYPICFEATURE$, hypodontia, and other distinct facial features.	has_symptom
+2d34eadc92eebbace2c43acd9453ddc88a5c32e9	Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), @DISEASE$, @PHENOTYPICFEATURE$, and other distinct facial features.	false
+44f29534480efac9743a783d8531cef3b7b76d84	@DISEASE$ is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), hypotrichosis, @PHENOTYPICFEATURE$, and other distinct facial features.	false
+f14a63e32fb2e4970bbf6084412dcbedf4991922	Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by @DISEASE$ (or anhidrosis), hypotrichosis, @PHENOTYPICFEATURE$, and other distinct facial features.	false
+bf3e63b83049f696d390742097bf741a2d9b73d6	Hypohidrotic ectodermal dysplasia is a common variation of @DISEASE$, characterized by hypohidrosis (or anhidrosis), hypotrichosis, @PHENOTYPICFEATURE$, and other distinct facial features.	false
+b12b1b59e2f8139a50f11d021e81b8271870e824	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, @PHENOTYPICFEATURE$, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.	has_symptom
+9c27e4df7c8c0bd52573b3208bd8a7f2e0c75f98	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and @DISEASE$/cleft palate.	false
+83eb612614fbb6d11f731339396546c72b80e7fd	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and @DISEASE$/@PHENOTYPICFEATURE$.	false
+5a8158e7a63cf1ab1d3921291f7b324ff385182b	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, @PHENOTYPICFEATURE$, and @DISEASE$/cleft palate.	false
+ffb54bcdc05e98e02b7e180c3d7245c946c93278	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by unusual facies, @PHENOTYPICFEATURE$, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+79ba029bf0a766bd24d16674d190d049a23c44a2	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, @DISEASE$, palmoplantar hyperkeratosis and onychodysplasia, @PHENOTYPICFEATURE$, and cleft lip/cleft palate.	false
+276b3d75650712bae53ee6d3814f151b85ecd08b	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, @PHENOTYPICFEATURE$ and onychodysplasia, syndactyly, and @DISEASE$/cleft palate.	false
+12b8a8501ef3337bbb87047ec8a5faf58753998f	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+2281eb2f0153323b711006514720a0f532339e6e	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, @PHENOTYPICFEATURE$, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and @DISEASE$/cleft palate.	false
+7152161b56ddebdc75161d2a776300f2012c7314	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, dental anomalies, @DISEASE$, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+434b974a30bce030e3a0fa08116eb5043995a820	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, @DISEASE$, @PHENOTYPICFEATURE$ and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+738f9f53eff36b8cfd243e067ee48551b3394545	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, @PHENOTYPICFEATURE$, and cleft lip/cleft palate.	false
+3313805568b6781355011f71043c8af508e3dcc9	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, @DISEASE$, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/@PHENOTYPICFEATURE$.	false
+1674020417e52fefd8f3db92852c54bf90405018	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, @PHENOTYPICFEATURE$, @DISEASE$, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+0e5bfd17fd9a6dda0377fae36db8d9743f0c211e	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, @PHENOTYPICFEATURE$ and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+b56ed47f61a99b2bea2d0071e9ae295eb0736ce4	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/@PHENOTYPICFEATURE$.	false
+f5f0259ef5139615c4ac423ad7cc41c8cf7b2a3f	The purpose of this paper was to present two sisters of a family of consanguineous parents with the combination of @PHENOTYPICFEATURE$ of the head and macular dystrophy in the context of a tricho-ocular malformation of an @DISEASE$.	has_symptom
+fdfa51be247381c34e7a630ff05f7626925de8e6	[Hereditary @DISEASE$ with anhidrosis, @PHENOTYPICFEATURE$ and hypodontia].	has_symptom
+5412066f3959dec83069040ad397bfd9d9997fb3	[Hereditary @DISEASE$ with anhidrosis, hypotrichosis and @PHENOTYPICFEATURE$].	false
+dde45f2d0cfe958817c70d26bd7e9f259cda1d88	[Hereditary ectodermal dysplasia with anhidrosis, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+f9d942e7bd9a895f10d56647b64381bb166ca8c5	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @PHENOTYPICFEATURE$, and hyperhidrosis of the palms and soles.	has_symptom
+65e2bfe366a64ebf1ee1b39c71319fc4e4b0823f	Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, @DISEASE$, and hyperhidrosis of the palms and soles.	false
+e3f86c43b69b02d7f9174a57b6845e9745efa89e	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+df0798d84ee99302d3d5506d8943a49dcf97e682	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+c6b89d05cd48a891eaec02839d656932866f143c	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+3ea1626e5173a7818019ed69ca90bf1cbd7f7e46	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+55320a26646081f95cddd154b881156f6dc8e374	Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @DISEASE$, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+9d3dc77e3d11986d502f63e6bee8da0d52d31e8a	Absence of sweat glands, @PHENOTYPICFEATURE$, hypodontia, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic @DISEASE$.	has_symptom
+0b96a1161a66724b76f3e2aca2152a2cdf2b8926	Absence of sweat glands, hypotrichosis, @PHENOTYPICFEATURE$, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic @DISEASE$.	false
+8574b0dc16b2e0502d38fd04e5a02d4a98e2d897	Absence of sweat glands, @DISEASE$, @PHENOTYPICFEATURE$, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic ectodermal dysplasia.	false
+4dc079ea245b75f8bdff22c81b3efb49f1ca5ad4	Sch?pf-Schulz-Passarge syndrome is a rare @DISEASE$, characterized chiefly by multiple eyelid apocrine hidrocystomas, palmo-plantar keratoderma, hypodontia, @PHENOTYPICFEATURE$ and nail dystrophy.	has_symptom
+a519b6f3e86ba8ad5b7b20048d89b02b06742c8c	Sch?pf-Schulz-Passarge syndrome is a rare form of @DISEASE$ comprising @PHENOTYPICFEATURE$, hypodontia, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy.	has_symptom
+53458b1ef9b31c3b9a87646db45bb541d4a60987	Sch?pf-Schulz-Passarge syndrome is a rare form of @DISEASE$ comprising hypotrichosis, @PHENOTYPICFEATURE$, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy.	false
+724533ae8a8e98c9535a625c0bdfef18571a731b	Sch?pf-Schulz-Passarge syndrome is a rare form of ectodermal dysplasia comprising @DISEASE$, @PHENOTYPICFEATURE$, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy.	false
+587c6233ad35a884409bdbd8a381caade0569b5b	@DISEASE$?pf-Schulz-Passarge syndrome is a rare form of ectodermal dysplasia comprising hypotrichosis, @PHENOTYPICFEATURE$, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy.	false
+607156ad6c266fe8a28e5440b440a2150ec5c4be	Sch?pf-Schulz-Passarge @DISEASE$ is a rare form of ectodermal dysplasia comprising hypotrichosis, @PHENOTYPICFEATURE$, unusual eyelid cysts, palmar-plantar keratosis, and nail dystrophy.	false
+2e9cfe074a16ea1d49daabd3a7025743360c23c3	Sch?pf-Schulz-Passarge syndrome is a rare form of ectodermal dysplasia comprising hypotrichosis, @PHENOTYPICFEATURE$, unusual eyelid cysts, palmar-plantar @DISEASE$, and nail dystrophy.	false
+f70945ec80f17cc8e2bf4f8d2a7d9ce4ffa0dca8	@PHENOTYPICFEATURE$ in chromosome16q22.1 linked @DISEASE$.	has_symptom
+f70945ec80f17cc8e2bf4f8d2a7d9ce4ffa0dca8	@PHENOTYPICFEATURE$ in chromosome16q22.1 linked @DISEASE$.	has_symptom
+b565d6e7d604f3e7176857fe14f126534d999456	The MJD/SCA3 mutation was identified in nine families with @DISEASE$ type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of cerebellar disease.	has_symptom
+a38d4e950d83b84f9d5eba6a5e82f6cb15d93879	The MJD/SCA3 mutation was identified in nine families with @DISEASE$ type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and @PHENOTYPICFEATURE$, but little evidence of cerebellar disease.	false
+59c89fef1d1675df4634ce2cd3b18c4fa3263da6	The @DISEASE$/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and @PHENOTYPICFEATURE$, but little evidence of cerebellar disease.	false
+84824529923f0818f801e650e655ce17674eb512	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @DISEASE$, dystonia, and @PHENOTYPICFEATURE$, but little evidence of cerebellar disease.	false
+47ea7dea381cd55e8997488a50339bc58a9fbfe9	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, @DISEASE$, and @PHENOTYPICFEATURE$, but little evidence of cerebellar disease.	false
+bbdc3106415b2765db9cabd30ba32fce4a869248	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and @PHENOTYPICFEATURE$, but little evidence of @DISEASE$.	false
+06b330b8deeda3d51024c752474f32d108c0e468	Three patients manifested typical AIDS dementia complex (@DISEASE$) (initially without retinitis and with slowly progressive cognitive, motor and behavioral abnormalities which were zidovudine-responsive, and relatively preserved CD4+ T cells), and seven patients presented with AIDS dementia complex complicated by CMV encephalopathy (ACE) (with CMV retinitis, @PHENOTYPICFEATURE$, altered sensorium, and rapidly declining clinical and immunological status).	has_symptom
+0350502fcdbdf83b97d1ba418c87056765c1c8e5	Spinocerebellar ataxia type 2 (SCA2) is an @DISEASE$ characterized by a progressive cerebellar syndrome associated to saccadic slowing, @PHENOTYPICFEATURE$, cognitive disorders, and other multisystem features.	has_symptom
+69d21f98186e3f8195a53b28699d72adceb6a175	Clinical revaluation and genetic analysis of six Indian pedigrees, segregating @DISEASE$, slow saccades and @PHENOTYPICFEATURE$, has been undertaken, and expansion at the spinocerebellar ataxia 2 (SCA2) locus was confirmed in 14 affected family members.	has_symptom
+d67c51fc06435b36228bf03abefebe8a0cbad714	Clinical revaluation and genetic analysis of six Indian pedigrees, segregating autosomal dominant cerebellar ataxia, slow saccades and @DISEASE$, has been undertaken, and expansion at the spinocerebellar @PHENOTYPICFEATURE$ 2 (SCA2) locus was confirmed in 14 affected family members.	false
+b709655b727d622ed983d9a2e9f8906393772c85	Clinical revaluation and genetic analysis of six Indian pedigrees, segregating @DISEASE$, slow saccades and peripheral neuropathy, has been undertaken, and expansion at the spinocerebellar @PHENOTYPICFEATURE$ 2 (SCA2) locus was confirmed in 14 affected family members.	false
+1666f2843325636a3685d187e360f9317c79f6fd	In a single patient with @PHENOTYPICFEATURE$, whole-exome sequencing revealed MAN1B1 as @DISEASE$ candidate gene.	has_symptom
+4290485c2e77d0f9f207d85c212c1cf9c926845b	To characterise the breakpoints of a de novo balanced translocation t(X;9)(p11.23;q34.3) in a @PHENOTYPICFEATURE$ female patient with clinical features similar to the @DISEASE$.	has_symptom
+369aeda7ed3ae30b230a61b775a38d3fc6c8775d	However, it has recently been identified in a wide variety of conditions, including eclampsia, @DISEASE$, connective tissue diseases, malignancies, etc. Authors describe a case of a 72-year-old woman with a history of arterial hypertension, who suddenly developed headache, confusion, left homonymous hemianopsia, and left @PHENOTYPICFEATURE$, associated with high blood pressure.	has_symptom
+b61bc4cd94db7414969b284cff49bfdd09003892	Although this study is limited by our small number of patients, our results suggest that early otolaryngologist involvement must be considered in the care of children with @DISEASE$ because many have evidence of eustachian tube dysfunction, hearing loss, and @PHENOTYPICFEATURE$.	has_symptom
+2719f30b74046dc1baece938c613ef91aaabaf35	Prader-Willi, Bardet-Biedl, Cohen, Borjeson and @DISEASE$ are genetic disorders characterized by @PHENOTYPICFEATURE$ and other diverse abnormalities.	has_symptom
+704b5b7889aaed0d34d9fe287269b815d8b330a5	Abnormal secretion of melatonin and cortisol in relation to @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+3fdc6b4191a0acaf064b4b3208c157ea6442f00a	Sleep disorders are common in individuals with @DISEASE$ (WS), and @PHENOTYPICFEATURE$ has a significant negative effect on attention, learning, and behavior.	has_symptom
+8c01048dac961bf2074f56eba6f455ce74e9942a	p.Phe582fs*69) in all of the affected family members but not in the unaffected one, providing further evidence that @DISEASE$ haploinsufficiency causes @PHENOTYPICFEATURE$ with advanced bone maturation.	has_symptom
+8ef3973e095e1435be5d391e623aec4d8cb26d35	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple hypopituitarism, firstly GH and, afterwards, TSH and @DISEASE$ deficiencies, in a pluri-malformative syndrome characterized by @PHENOTYPICFEATURE$ and anatomical malformations not associated with a classical SOD phenotype.	has_symptom
+9782f3b1544cd7d776d054eed896feea78df9154	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple @PHENOTYPICFEATURE$, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by @DISEASE$ and anatomical malformations not associated with a classical SOD phenotype.	false
+a04a537c89c6e06afc9630d218dac4e44b1910e4	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple @PHENOTYPICFEATURE$, firstly GH and, afterwards, TSH and @DISEASE$ deficiencies, in a pluri-malformative syndrome characterized by short stature and anatomical malformations not associated with a classical SOD phenotype.	false
+1fca59bd4d6346e5872eca3e239a169cf7bdb37e	The present report describes clinical features, biochemical parameters, and characterization of a missense mutation (Gln6His) in exon1 of HESX1 in a pre-pubertal child who progressively developed multiple @PHENOTYPICFEATURE$, firstly GH and, afterwards, TSH and ACTH deficiencies, in a pluri-malformative syndrome characterized by short stature and anatomical malformations not associated with a classical @DISEASE$ phenotype.	false
+932036e5650f0cb0a9403ccd48134fe4fe3e7f52	GH-deficiency causes @PHENOTYPICFEATURE$ and metabolic disturbances, LH-FSH-deficiency amenorrhoea/oligomenorrhoea, loss of libido and secondary sexual characteristics, TRH-deficiency hypothyroidism and @DISEASE$-deficiency hypotonia, weakness, loss of pigmentation.	has_symptom
+bec8b6143947b81eb46bc740a335d90e048c4104	In a patient with early onset @PHENOTYPICFEATURE$, strategic diagnostic workup including genetic assessment revealed an adult-onset @DISEASE$ with a novel mutation in the arylsulfatase A gene.	has_symptom
+6d0100bb461087eb4ae34992d357c6d47e9a50d5	The diagnosis of @DISEASE$ should be considered in cases of early @PHENOTYPICFEATURE$, with or without psychosis or other neurologic deficits, in which evoked potentials are delayed and peripheral nerve conduction is slowed.	has_symptom
+570cba5525c77afedb20b7307189787879a8e3b6	All four cases had a uniform presentation in the neonatal period, much like @DISEASE$ - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated @PHENOTYPICFEATURE$ or even sudden death; erythematous skin rashes; and camptodactyly.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7f2dced9a9f9594535bf1cceb33e51928d2ee988	Aase-Smith syndrome (@DISEASE$) is usually defined as a dominantly inherited combination of arthrogryposis, Dandy-Walker malformation and @PHENOTYPICFEATURE$.	has_symptom
+640f5e0400503e52f12c4321fdc922f17c0884e9	To evaluate progressive US changes in the kidneys of patients with @DISEASE$ (NPH), an autosomal recessive progressive kidney disease with polyuria, polydipsia, anemia and @PHENOTYPICFEATURE$.	has_symptom
+b86ce192bca830f0530bad14610bb7c864818af5	@DISEASE$ is characterized clinically by rickets and @PHENOTYPICFEATURE$.	has_symptom
+2e2f2375ac407dc7ebdd2fe0b3816935ebe1807a	@DISEASE$ (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by @PHENOTYPICFEATURE$, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in Pi reabsorption and vitamin D metabolism.	has_symptom
+9016748aae857e5dd8bb70c1a7d2a79f06aee3c3	X-linked hypophosphatemia (@DISEASE$) is a dominant disorder of phosphate (Pi) homeostasis characterized by @PHENOTYPICFEATURE$, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in Pi reabsorption and vitamin D metabolism.	has_symptom
+483c4a8e6763182275e829b8dcc678c929b96081	X-linked hypophosphatemia (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rachitic and osteomalacic @DISEASE$, @PHENOTYPICFEATURE$, and renal defects in Pi reabsorption and vitamin D metabolism.	false
+cf042ec8be7d8103547f1018f84a854111132b52	X-linked hypophosphatemia (@DISEASE$) is a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, @PHENOTYPICFEATURE$, and renal defects in Pi reabsorption and vitamin D metabolism.	false
+d171666dd6eba2dcb46cd9229caf47a358899eba	@DISEASE$ (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, @PHENOTYPICFEATURE$, and renal defects in Pi reabsorption and vitamin D metabolism.	false
+f6df21e49b034fe827e6f6e154918173d6e56d84	X-linked hypophosphatemia (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by @DISEASE$, rachitic and osteomalacic bone disease, @PHENOTYPICFEATURE$, and renal defects in Pi reabsorption and vitamin D metabolism.	false
+618fd1a607c5eea4245302510219a2e03d40d845	X-linked hypophosphatemia (XLH) is a dominant disorder of phosphate (Pi) homeostasis characterized by growth retardation, rachitic and @DISEASE$ bone disease, @PHENOTYPICFEATURE$, and renal defects in Pi reabsorption and vitamin D metabolism.	false
+900072799049a8e051d6a5b188f086819f575d5b	X-linked hypophosphatemic rickets (@DISEASE$) is characterized by hypophosphatemia and @PHENOTYPICFEATURE$.	has_symptom
+68ed6c9db440c3d3bdb7afd6f03f85043e4e16e2	X-linked hypophosphatemic rickets (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ and growth retardation.	false
+e9b06056b1f1c76ee6a3f6acd53401b0e70a9e3a	X-linked hypophosphatemic rickets (XLH) is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+433bd59c9692df1346adb084a823fc0cc3c6e04c	These findings suggest that suppression of chondrocyte proliferation by FGF23 could have a causative role in the development of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+beccb066743dc50052b15b4c9900b44dc67792cf	@DISEASE$ (XLH, OMIM 307800) is the most common hereditary hypophosphatemic rickets and characterized by @PHENOTYPICFEATURE$, skeletal malformations, dental dysplasia, spontaneous fractures and osteomalacia.	has_symptom
+41a71b5149a66e88a9abeb17a161bbe8c24362e8	@DISEASE$ (XLH) leads to @PHENOTYPICFEATURE$ and bone deformities, which are not fully avoided by conventional treatment with phosphate and vitamin D analogs.	has_symptom
+832409441acfc9a9bc381b9b12d68ffd4903530a	Those with @DISEASE$ show systemic signs of the disease, such as @PHENOTYPICFEATURE$, limb deformity, and spinal curvature disorders; however, these symptoms are more severe in the patient than in the others.	has_symptom
+6227df3f5fd2bc209a47e38ec2efcce278d05993	X-linked hypophosphatemia (@DISEASE$) is characterized clinically by rickets and @PHENOTYPICFEATURE$.	has_symptom
+0d6d84f9bc46c5c46d4c430ba4e3f142a28a2e66	@DISEASE$ (XLH) is characterized clinically by rickets and @PHENOTYPICFEATURE$.	has_symptom
+40ab37a606f19676d33ad19bc902bcc71979f1cf	@DISEASE$ is an inherited disorder of phosphate (Pi) homeostasis characterized by @PHENOTYPICFEATURE$, rickets and osteomalacia, hypophosphataemia, and aberrant renal Pi reabsorption and vitamin D metabolism.	has_symptom
+989f0a9f90e59141e60117facdc2dcd90a87e8e4	X-linked hypophosphatemia is an inherited disorder of phosphate (Pi) homeostasis characterized by growth retardation, rickets and @DISEASE$, @PHENOTYPICFEATURE$, and aberrant renal Pi reabsorption and vitamin D metabolism.	false
+2a20878dd8ae2948a9708050a6f99ca4375a3ae0	X-linked hypophosphatemia is an inherited disorder of phosphate (Pi) homeostasis characterized by @DISEASE$, rickets and osteomalacia, @PHENOTYPICFEATURE$, and aberrant renal Pi reabsorption and vitamin D metabolism.	false
+395249c8d5647a099fa3945a28a2dd80ba6e3988	@DISEASE$ is an inherited disorder of phosphate (Pi) homeostasis characterized by growth retardation, rickets and osteomalacia, @PHENOTYPICFEATURE$, and aberrant renal Pi reabsorption and vitamin D metabolism.	false
+af3465d80e57e77e7b3ebab82f7d98a32f24bdfb	Mutations in PEX, a phosphate-regulating gene with homology to endopeptidase on the X chromosome, were recently identified in patients with @DISEASE$ (XLH), an inherited disorder of phosphate homeostasis characterized by @PHENOTYPICFEATURE$ and rachitic and osteomalacic bone disease.	has_symptom
+af7eff0f85c26a22e258f72a1f4609f89f2c6739	Mutations in PEX, a phosphate-regulating gene with homology to endopeptidase on the X chromosome, were recently identified in patients with X-linked hypophosphatemia (@DISEASE$), an inherited disorder of phosphate homeostasis characterized by @PHENOTYPICFEATURE$ and rachitic and osteomalacic bone disease.	has_symptom
+9e9f735f258834cce1b50e88327df491ce99892b	Patients with @DISEASE$ exhibit distinct dysmorphic features, @PHENOTYPICFEATURE$, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and genital abnormalities.	has_symptom
+0ef36e18f9390fa879197361a9ad1bdbfd8e8ad8	Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, @DISEASE$, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and @PHENOTYPICFEATURE$.	false
+71125f23e308e7310a2fd8f853fb5e8a2373c65b	Patients with @DISEASE$ exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and @PHENOTYPICFEATURE$.	false
+baccb6b8e80672074ee26ff20dfa1d294e01c06a	Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, @DISEASE$ dysmorphism associated with skeletal and @PHENOTYPICFEATURE$.	false
+e1998601e78e36aa9ddebf52630dcd60666621f5	Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples @DISEASE$ while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and @PHENOTYPICFEATURE$.	false
+6c7ba23d1b41f9e5ce52073d4705677f95b32f8d	The authors report a 4-year-old boy who presented with @PHENOTYPICFEATURE$, motor delay, protuberant abdomen and was noted to have huge hepatomegaly with glycogen deposition in liver, and @DISEASE$.	has_symptom
+63fd01dea5f8ff0f53edaa2bdce0a1baf3f527ea	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or @DISEASE$.	has_symptom
+5f45467ca836f076c4cee8e40def71beb68a5d67	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+be069ce3c4e0514536c75a363188e97d06e94e1c	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+8e6f380f5e50fbf029f8efec04724db7b9878a25	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+c656cc92783eb7cc3eb3fd0742eca2b6bfc2bde0	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @DISEASE$, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+20a4a9e0989dfe7f26ebc4ad4ce46a506511d710	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or @DISEASE$.	false
+077dc59a05363ebe80d0229a621103e0e8bf7a68	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+f1f13a02e8719b19e4670fecdda73819ed2fba88	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+e58d52d264e9c076a5cf2329243fc9030473d10d	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, @DISEASE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+c76a529aae2e592f3e381a6f286dbac011977034	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+78aecaf325c72166e0435dc4ad9f779236bc647a	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or @DISEASE$.	false
+5afe890b44910f6d6a34e2c1e726c1a9090f2238	In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with @PHENOTYPICFEATURE$, microcephaly, developmental delay, hypertrophic cardiomyopathy, and @DISEASE$ due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor.	has_symptom
+f2e14d8553fdbe5dcd8c01f2af88f1852adf6ebe	In addition, @DISEASE$ without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor.	false
+f69ebe8ccf41ee830b915d5e9562e6bf2b1f983a	In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, hypertrophic cardiomyopathy, and @DISEASE$ due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor.	false
+b1c35ad75a54ee89be790e8fd2ca6809cacb4750	In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor.	false
+94edda302a6b93b5d5f9a299ebd81055fa2fb71b	In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, hypertrophic cardiomyopathy, and renal tubular acidosis due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor.	false
+c4c88426a33e1571a2056d4e80c15ab616f53ef6	Clinically, the four types of @DISEASE$ can be associated with complications such as osteomalacia, urolithiasis and @PHENOTYPICFEATURE$.	has_symptom
+ae952b150ef7092f3c571da7dba97905f112c521	We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, @PHENOTYPICFEATURE$, and chronic metabolic acidosis who had lipid myopathy and @DISEASE$.	has_symptom
+c42d94016b946c322df2136e3cfcae31c372c8f3	Typical abnormalities of hereditary @DISEASE$ type II patients were observed in the mice deficient of VDR with @PHENOTYPICFEATURE$, impaired bone formation and alopecia.	has_symptom
+97f2a3934d74cc2a4656b9d0a618c10de6ea646b	4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other @PHENOTYPICFEATURE$) and @DISEASE$.	has_symptom
+f6a80cf701fcd216a7a0c3bf23a7e9ee007ceb1e	4H @DISEASE$ is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism.	false
+a776f02a88dbdbe54f46ad544d68143da8a00312	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without @DISEASE$ (or other dental abnormalities) and hypogonadotropic hypogonadism.	false
+85d0ce29e8e2b17377969ab4ba1cd702c85cb626	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and @DISEASE$.	false
+07e391a186af3767e389780e161b0dfe4b664845	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related @DISEASE$, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism.	false
+2144151162240c0f950811c3ece048d8aef0c92b	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other @DISEASE$) and hypogonadotropic hypogonadism.	false
+a7b5f1928b2907164ad233141adb15a2eb9cc5fb	Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without @PHENOTYPICFEATURE$ and/or @DISEASE$.	has_symptom
+40e46a0aa80e9c6c4855eb212032280bd7837acf	Phenotypic spectrum of POLR3B mutations: isolated @DISEASE$ without neurological or @PHENOTYPICFEATURE$.	has_symptom
+896fe5d64191a038d6d532e20df2965e2c89caef	We report a new family with oculodigitoesophagoduodenal syndrome (@DISEASE$), which associates @PHENOTYPICFEATURE$, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and duodenal atresia.	has_symptom
+17c5933326add8cf64dfee75ce9c23540cf520cf	@DISEASE$ could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, @PHENOTYPICFEATURE$, and Behavioral Changes, but Normal Structural MRI.	has_symptom
+d64bf2508f33032f2a6f311b185ce8e30e973d6f	Primary @DISEASE$ as a potential missed diagnosis in children with psychomotor delay and @PHENOTYPICFEATURE$: case presentation with two novel variants and literature review.	has_symptom
+f991df27fc620209eb07a87f8a9e26c846301abe	Patients with @DISEASE$ present with global developmental delays, mental retardation, speech impairment especially affecting active language, @PHENOTYPICFEATURE$, extrapyramidal movement disorder, and autism spectrum disorder.	has_symptom
+72cb86e523dd176e627a108feecc4f3b0753ee9a	Patients with CDS present with global developmental delays, @PHENOTYPICFEATURE$, speech impairment especially affecting active language, @DISEASE$, extrapyramidal movement disorder, and autism spectrum disorder.	false
+903c7d8d2b4a92a389a2e202639522a755887957	Patients with @DISEASE$ present with global developmental delays, mental retardation, @PHENOTYPICFEATURE$ especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder.	false
+af319ca73071bdfad62aac2571d17ccce8459756	Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c452a940a546cdd8ae35ea3df17fb910a4f422ad	Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, @DISEASE$, extrapyramidal @PHENOTYPICFEATURE$, and autism spectrum disorder.	false
+e1b0d5132751b5465a535bd8a0ded2b5151df1f0	Patients with CDS present with global developmental delays, mental retardation, @PHENOTYPICFEATURE$ especially affecting active language, @DISEASE$, extrapyramidal movement disorder, and autism spectrum disorder.	false
+ab26c1174db72a5fcb9b8686ef95a1b86cf1f923	Patients with @DISEASE$ present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal @PHENOTYPICFEATURE$, and autism spectrum disorder.	false
+ddd75d59576fb3e07293b27f6a43d0c8059a32b8	Patients with @DISEASE$ present with global developmental delays, @PHENOTYPICFEATURE$, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder.	false
+cf01576f0e5a911e73524164c378f91cabd04360	Patients with CDS present with global developmental delays, @PHENOTYPICFEATURE$, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and @DISEASE$.	false
+ebf00d51963a8874f17fc6029d8921e4e3950c6c	Patients with CDS present with global developmental delays, mental retardation, @PHENOTYPICFEATURE$ especially affecting active language, seizures, extrapyramidal movement disorder, and @DISEASE$.	false
+d3a35a78f302f183b83cf362615379f25a4eeba9	Unlike our study population, we expect more frequent @DISEASE$ among children with severe developmental delay, speech impairment, @PHENOTYPICFEATURE$, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.	has_symptom
+563f20c187a2f99c05631ce61dc81780724cdfce	Unlike our study population, we expect more frequent CDS among children with severe developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.	false
+d157968544000f8e421efd1ac956f38ea2989b1a	Unlike our study population, we expect more frequent @DISEASE$ among children with severe developmental delay, @PHENOTYPICFEATURE$, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.	false
+a877cf9d7f8909c7cffa68172d11b6d1cd44ca25	Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, @DISEASE$, and @PHENOTYPICFEATURE$ in addition to impairments in social communication, restricted interests, and repetitive behaviors.	false
+d2dc9a617d01f5bdc304468d813d5bbb4633e50d	Unlike our study population, we expect more frequent @DISEASE$ among children with severe developmental delay, speech impairment, seizures, and @PHENOTYPICFEATURE$ in addition to impairments in social communication, restricted interests, and repetitive behaviors.	false
+07a71ca4e1346f343eed2016e509c5a22157a854	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	has_symptom
+d12d14a697a124e923eb5d52ab22090619d5d389	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+281885827d4a5f1e4952a7e5a2e74a7d60fa077e	GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and @DISEASE$ that partly cannot be treated with anti-epileptic drugs.	false
+9adcb1b01f4131c110e5bb6434ee6bd7c6b73ec8	GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and @DISEASE$ that partly cannot be treated with anti-epileptic drugs.	false
+cf18ae61a5f4571426cbfd31608b988d6cff8cff	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+54f62a454664cec9d108a7e469941d40a72b5c68	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+158794183be8a7e788cb20b8b64b687d83a810a8	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+9af97bce97c051a44e2d67e65d601de29de13272	@DISEASE$ is a malformation characterized by absent/@PHENOTYPICFEATURE$ and abnormally positioned ears.	has_symptom
+029554af72bdd3bde10a86a5def4ed1887d87fbc	@DISEASE$ was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had @PHENOTYPICFEATURE$ only.	has_symptom
+541f76f4cc08d1843863942a71a53e4ab33589c2	FOXE1 gene mutation screening by multiplex PCR/DHPLC in @DISEASE$ and syndromic and non-syndromic @PHENOTYPICFEATURE$.	has_symptom
+1b573b433f5ce46739e427792eafff0e4b8df088	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @PHENOTYPICFEATURE$, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	has_symptom
+4638992a1c5e9cdea363b8d2e47ca3e6af943631	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, @PHENOTYPICFEATURE$, and brain abnormalities may be seen in patients.	false
+4f74f58f2a6c137e7c0e3cdf3e35668191971349	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, @PHENOTYPICFEATURE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+bc0936182e991c62650e37bbc611b3eb1e74f7ec	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, @PHENOTYPICFEATURE$, and brain abnormalities may be seen in patients.	false
+c4799efc539bb95af9295ba3b6150fdbb0d6da4a	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), @PHENOTYPICFEATURE$ (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @DISEASE$, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+100c2b39f9c27e2ce00418ce9bd8da6e05df13ec	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), @PHENOTYPICFEATURE$ (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+81cad42b986e52ba4b7122e61b86a0df0483fd8a	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, @PHENOTYPICFEATURE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+51ab15d77151c24a28c936a11da25231a3ea5a28	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), heart defects (H), choanal atresia (A), @PHENOTYPICFEATURE$ (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+247a97cf4f3876464b2fb993343188827557d26b	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), @PHENOTYPICFEATURE$ (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+d8d06e268f89fff5ba864c1abfa8b2355992c7e2	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), @PHENOTYPICFEATURE$ (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+afa539c1dd05c18adfb254433423a3a8686e285e	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @DISEASE$, @PHENOTYPICFEATURE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+8a1e180ff9860a8190763b68aacd57e50d6f6cee	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @DISEASE$, micrognathia, facial paralysis, @PHENOTYPICFEATURE$, and brain abnormalities may be seen in patients.	false
+0831326d133470f4e29cdfd7d2cc2906de89839e	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), @PHENOTYPICFEATURE$ (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @DISEASE$, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+b0332915bb86feeba28b6195ebb69f05b97f0e8c	@DISEASE$ 1 (cDM1), a multi-system disorder is characterized by both cognitive deficits and a spectrum of @PHENOTYPICFEATURE$, which include visuo-spatial memory deficits, anxiety and apathy.	has_symptom
+60a93c73a1ba7419700add68852288d9ce73ab4d	@DISEASE$ (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+e0ff8f55d0e065f1ea0ad29dcb297f0997891cc9	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), @DISEASE$, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @PHENOTYPICFEATURE$ and seizures.	false
+9c1c097ee978bcfd292ef7890526226913e68738	@DISEASE$ (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @PHENOTYPICFEATURE$ and seizures.	false
+0ac355ba5c19c025dadb42c2d5f711685e7ce015	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5fe9f7c8e5958372a5b289ba8ac91299da011328	@DISEASE$ is a preventable cause of @PHENOTYPICFEATURE$.	has_symptom
+2990277d0888219335910ab280c3ab3b7736789a	@DISEASE$ (CH) may lead to irreversible @PHENOTYPICFEATURE$.	has_symptom
+0242a99bb1ff618ab3697ea0008325ec6e487a4a	Unrecognized @DISEASE$ (CH) leads to @PHENOTYPICFEATURE$.	has_symptom
+299cc2e05c3c0063a825abf860a6971286ff5d2d	[Hypospadia @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+57f05e01f1148dd32edb7810fc36aa4d02d6cd2e	@DISEASE$ is a common preventable cause of @PHENOTYPICFEATURE$.	has_symptom
+f81c710cf7228c2adb8b8a9c3a931d2f98384001	@DISEASE$: a preventable cause of @PHENOTYPICFEATURE$.	has_symptom
+c1e0c53756f9dc59c7c41b3290948b1e72994e48	@DISEASE$ is the most treatable cause of @PHENOTYPICFEATURE$.	has_symptom
+a1e037297e25ed3c86086acf357da166c601c0e9	@PHENOTYPICFEATURE$ due to @DISEASE$ and its prevention.	has_symptom
+02c28a0e3adff5837a16199293dcfe861226c2f9	Unrecognized @DISEASE$ leads to @PHENOTYPICFEATURE$.	has_symptom
+5fe9f7c8e5958372a5b289ba8ac91299da011328	@DISEASE$ is a preventable cause of @PHENOTYPICFEATURE$.	has_symptom
+102d258f218e45a58ae05437253a4c91eb6c313c	@DISEASE$ @PHENOTYPICFEATURE$ may mimic meningitis caused by Mycobacterium tuberculosis.	has_symptom
+414b0fe49af35e2649d86c77b1b8533aedbe103c	@DISEASE$ (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit contractures, skin webbing, @PHENOTYPICFEATURE$, deformity of the spine, and cervical spine fusion.	has_symptom
+07128e08a6d8d81b4c13495dc74c3f3c31f01efa	@DISEASE$ (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit @PHENOTYPICFEATURE$, skin webbing, cleft palate, deformity of the spine, and cervical spine fusion.	false
+41992c27793a8556abb2ac2435a5d5bd22f61ef1	Multiple pterygium syndrome (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit @PHENOTYPICFEATURE$, skin webbing, @DISEASE$, deformity of the spine, and cervical spine fusion.	false
+fd87f51ebc02422d91eab5946bdb9f37eea4a473	@DISEASE$ patients with @PHENOTYPICFEATURE$ incurred significantly greater health care utilization and expenditures than those without cutaneous infections.	has_symptom
+23fc0b89996f55bbea7a82a2ae7be661db13da4d	@DISEASE$ patients with cutaneous infections incurred significantly greater health care utilization and expenditures than those without @PHENOTYPICFEATURE$.	has_symptom
+1f72a3ca875a46d0d1d37aa8ce5db73b53a2531b	He had had chronic @DISEASE$ and @PHENOTYPICFEATURE$ since infancy.	has_symptom
+c82c1c5931df48ac57102bca16130783880e8646	Filaggrin mutations are associated with @PHENOTYPICFEATURE$ in Singaporean Chinese patients with @DISEASE$.	has_symptom
+9052bdd8740b5f3eb2d2fd69cce1be638d65308c	@DISEASE$ is characterized by Staphylococcus aureus colonization and @PHENOTYPICFEATURE$.	has_symptom
+b27f3045216f7f2d529f5778ec69c73ba938775d	In Part 1, we will discuss @PHENOTYPICFEATURE$, malignancy, rebound phenomenon, @DISEASE$, atopic dermatitis, lichenoid reactions, granulomatous disease, pruritus, acne, and progressive multifocal leukoencephalopathy.	has_symptom
+64d3c39ee17c7092b6a35a59857d0a80fc4c0ecc	In Part 1, we will discuss @PHENOTYPICFEATURE$, malignancy, rebound phenomenon, eczema, @DISEASE$, lichenoid reactions, granulomatous disease, pruritus, acne, and progressive multifocal leukoencephalopathy.	has_symptom
+49a34261f80ac50662c152fc53395ae55f38dcaf	A familial defect of neutrophil chemotaxis with asthma, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+f9cd154bd301ecc18c8f23217766bfe70192c9cf	[Infantile acropustulosis associated with @DISEASE$, recurrent @PHENOTYPICFEATURE$ and hyper-immunoglobulinemia E].	has_symptom
+774804758300e4ab2394083490c40142b5cc97d4	The most frequent admissions were for @DISEASE$ (17.5%) and @PHENOTYPICFEATURE$ (15.9%).	has_symptom
+338ff6f1e0d5573bd55aef69dd569996adacb59b	For patients with atopic dermatitis, @PHENOTYPICFEATURE$ with MRSA often lead to @DISEASE$ exacerbation.	has_symptom
+3044337d308a5c08031e1b928827faf13cc97e14	For patients with @DISEASE$, @PHENOTYPICFEATURE$ with MRSA often lead to eczema exacerbation.	has_symptom
+d20bf6035c8a6dfb9c83eb81466cb5ed44256505	Economic burden of @PHENOTYPICFEATURE$ in children and adults with @DISEASE$.	has_symptom
+5a31860065aed121625385a51e4f32ae9fe9f56e	Among patients with ethylmalonic aciduria, a subgroup with @PHENOTYPICFEATURE$, petechial skin lesions, and often death in infancy is distinct from those with short-chain acyl-coenzyme A dehydrogenase deficiency or @DISEASE$.	has_symptom
+315f68de8e2ffa0f9a994faef6ced60b32d62e43	Late-onset @DISEASE$ is probably an underdiagnosed disease and should be considered in all patients with acute or chronic muscular symptoms or acute metabolic decompensation with hypoglycemia, acidosis, @PHENOTYPICFEATURE$ and hepatopathy.	has_symptom
+213e94550ae9ce47db979f6619b8bd3d7859709d	Evans ratio is a good predictive index for @PHENOTYPICFEATURE$ in infantile @DISEASE$.	has_symptom
+c4c09e34474cadd05c80c96f6d67c4f15a8ad576	Twenty-one patients, including 5 patients with papilledema due to @DISEASE$, intracranial tumors, or meningitis, as well as 16 patients with @PHENOTYPICFEATURE$, were studied.	has_symptom
+fb883cbf123d63af28da0f02b56679f867e57bf8	Twenty-one patients, including 5 patients with papilledema due to @DISEASE$, intracranial @PHENOTYPICFEATURE$, or meningitis, as well as 16 patients with optic atrophy, were studied.	false
+b1426322d024cd595af721956e6c25a607b22f9c	Twenty-one patients, including 5 patients with papilledema due to congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, or meningitis, as well as 16 patients with @DISEASE$, were studied.	false
+e3bee2851945133c20494e2097ea668bb2a52361	Twenty-one patients, including 5 patients with papilledema due to congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, or @DISEASE$, as well as 16 patients with optic atrophy, were studied.	false
+c30c36726a7fead2eee1691244dc23c957535f6e	The common sign or symptoms were fever (74%), in ALL, AML, NHL, and BL patients, hepatosplenomegaly (100%) in @DISEASE$ patients, and lymphadenopathy (54%) and @PHENOTYPICFEATURE$ (54%) in Hodgkin's disease.	has_symptom
+961a026e6824e9e71aa40b8884adfd21f909c103	In patients with myelodysplastic syndrome or acute or @DISEASE$ presenting with diarrhea, abdominal pain, and/or @PHENOTYPICFEATURE$, colonoscopy and biopsy are indicated to determine if the colon is affected by granulocytic sarcoma.	has_symptom
+93f4eef5cb792a7041144d90297eafbb800f23ba	In patients with myelodysplastic syndrome or acute or chronic myelogenous leukemia presenting with @DISEASE$, @PHENOTYPICFEATURE$, and/or fever, colonoscopy and biopsy are indicated to determine if the colon is affected by granulocytic sarcoma.	false
+21fd71c32fca4677e8189a18297443b8651a37a2	In patients with myelodysplastic syndrome or acute or chronic myelogenous leukemia presenting with diarrhea, @PHENOTYPICFEATURE$, and/or @DISEASE$, colonoscopy and biopsy are indicated to determine if the colon is affected by granulocytic sarcoma.	false
+85cc1d2385b0fb4dbd66b265ff774cc56d9c5096	In patients with myelodysplastic syndrome or acute or chronic myelogenous leukemia presenting with diarrhea, @PHENOTYPICFEATURE$, and/or fever, colonoscopy and biopsy are indicated to determine if the colon is affected by @DISEASE$.	false
+66325dccdda44867d6b468835a777f62c6c87a14	In patients with myelodysplastic syndrome or acute or @DISEASE$ presenting with diarrhea, @PHENOTYPICFEATURE$, and/or fever, colonoscopy and biopsy are indicated to determine if the colon is affected by granulocytic sarcoma.	false
+8d62e434f0d6becb35ba346b3fd693e86d448e0b	In patients with @DISEASE$ or acute or chronic myelogenous leukemia presenting with diarrhea, @PHENOTYPICFEATURE$, and/or fever, colonoscopy and biopsy are indicated to determine if the colon is affected by granulocytic sarcoma.	false
+70df3d36114d45403647559568213aaf5f24e486	A 44-year-old woman who underwent haploidentical stem cell transplantation (haplo SCT) for @DISEASE$ in blast crisis and aspergillosis was admitted to the emergency room 7 months later because of severe right upper quadrant abdominal pain, @PHENOTYPICFEATURE$, leukocytosis and peritoneal signs.	has_symptom
+6aebb5697c2192bbae439de36b37c2f0cfc76e37	A 61-yr-old man with @DISEASE$ treated continuously for 8 yr with busulfan presented with @PHENOTYPICFEATURE$, abdominal pain, and elevated liver enzymes in a cholestatic pattern.	has_symptom
+67731437a2460aabbcfb64f06a075a4b40293c0e	A 61-yr-old man with @DISEASE$ treated continuously for 8 yr with busulfan presented with fever, @PHENOTYPICFEATURE$, and elevated liver enzymes in a cholestatic pattern.	false
+e2ddf6e0c455ccaa32cf44d33be3693eabcafae2	A 61-yr-old man with chronic myelocytic leukemia treated continuously for 8 yr with busulfan presented with @DISEASE$, @PHENOTYPICFEATURE$, and elevated liver enzymes in a cholestatic pattern.	false
+79287ae87362ca120f9070afc424dee260e0d394	Patients with Maroteaux-Lamy syndrome or @DISEASE$ showed improvements in hepatomegaly, @PHENOTYPICFEATURE$, short stature and tight skin, and this greatly increased their quality of life.	has_symptom
+fb6e0e092d1601d986c869683966b810a00e13be	Patients with @DISEASE$ or Hunter syndrome showed improvements in hepatomegaly, joint contractures, @PHENOTYPICFEATURE$ and tight skin, and this greatly increased their quality of life.	false
+4f90081eaf0925923eae66d514944fabb85476d7	Patients with Maroteaux-Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, @DISEASE$, @PHENOTYPICFEATURE$ and tight skin, and this greatly increased their quality of life.	false
+b78f7347a8e3f8cdb7240b49a98a42f3fefcb492	Patients with Maroteaux-Lamy syndrome or @DISEASE$ showed improvements in hepatomegaly, joint contractures, @PHENOTYPICFEATURE$ and tight skin, and this greatly increased their quality of life.	false
+31cfdd274594918e8e2580a948452e2d862e6901	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	has_symptom
+625ce9c06b50e594baca2782c66d8cdb4ede30ad	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	has_symptom
+155a9f7eb7b6114937cf2b119afd2c4411bde705	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	has_symptom
+5e1d8152c1f636fb7eb08337b4750b5c9b1f9b03	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+575a3103942da973329aba69d8243f6536b1d021	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+10f48848803a83d5757746720afd21cc7b8bac6e	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6514a0241b67d6e4689a49385c7113a992a8cb6d	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+f58f2c376cb9e2016af6ddaea30f087eb39208d1	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+7ec962552c2da08e8c156eff750cce2af96e1a24	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+d1508c4786ed2609d4c36f1cf0b894f3660cbe03	We present a rare case of @DISEASE$ in a 24-year-old male patient who presented with @PHENOTYPICFEATURE$ and recent onset hoarseness of voice.	has_symptom
+7c4e4afb43c6500c939bee9dffb7807d27b7501f	We report five cases of @DISEASE$ due to focal segmental glomerulosclerosis (FSGS) in @PHENOTYPICFEATURE$ children with severe infantile spasms.	has_symptom
+605fec92f753b249e90e45c2158c1fe3cc2090d5	These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset @DISEASE$ and @PHENOTYPICFEATURE$, accompanied by various other clinical symptoms.	has_symptom
+bd3e356e57bc0348712950ffd4a1e39276ba6964	The association of @DISEASE$ owing to congenital diffuse mesangial sclerosis, microcephaly, and @PHENOTYPICFEATURE$ appears to be a distinct syndrome with an autosomal recessive mode of inheritance.	has_symptom
+5d7d91375cd58d063ad7150b7ce565a13c936227	The association of @DISEASE$ owing to congenital diffuse mesangial sclerosis, @PHENOTYPICFEATURE$, and mental retardation appears to be a distinct syndrome with an autosomal recessive mode of inheritance.	false
+26a2806546be653ad69534b14c48ed555150e52c	The association of nephrotic syndrome owing to congenital diffuse mesangial sclerosis, @PHENOTYPICFEATURE$, and @DISEASE$ appears to be a distinct syndrome with an autosomal recessive mode of inheritance.	false
+8a3f344f364cc8058a5aa9a8f39dbf2f71b250f1	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, @PHENOTYPICFEATURE$, and early-infantile-onset @DISEASE$.	has_symptom
+04684395449f58e324e6c4337990b62fb3b4f4e5	Galloway-Mowat syndrome (GMS) is a rare @DISEASE$, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.	false
+88eb136fa1ee318066d039a66e6e73543cde0fe9	@DISEASE$ (GMS) is a rare autosomal recessive disease, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.	false
+f0ff55d1e2a0ae2b6c77e0debdab01c8360cf36e	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, @DISEASE$, and early-infantile-onset nephrotic syndrome.	false
+fa00e7e5f446c63fcdf46b17c4b02d0f606f5397	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset @DISEASE$.	false
+99089c9806733f48291d7b244fdced119305042f	Altogether, WDR73 mutations cause Galloway-Mowat syndrome in a particular subset of individuals presenting with late-onset @DISEASE$, postnatal microcephaly, severe @PHENOTYPICFEATURE$, and homogenous brain MRI features.	has_symptom
+c358b44968576c061225b9d8051263ac20ef30f4	We reviewed the previous literature and extended earlier observations about an unusual association between the @DISEASE$ due to FSGS-like lesion, @PHENOTYPICFEATURE$, infantile spasms, and/or microcephaly in children.	has_symptom
+6e086321108b48056386b49ce21b546b187e755f	We reviewed the previous literature and extended earlier observations about an unusual association between the nephrotic syndrome due to FSGS-like lesion, @DISEASE$, infantile spasms, and/or @PHENOTYPICFEATURE$ in children.	false
+023160614309358e727925b192c8c41b7ca495ff	We reviewed the previous literature and extended earlier observations about an unusual association between the nephrotic syndrome due to @DISEASE$-like lesion, mental retardation, infantile spasms, and/or @PHENOTYPICFEATURE$ in children.	false
+7af847c04d7d7bda655b24d1ae038cf5390a2e63	We reviewed the previous literature and extended earlier observations about an unusual association between the @DISEASE$ due to FSGS-like lesion, mental retardation, infantile spasms, and/or @PHENOTYPICFEATURE$ in children.	false
+a76d3a7599f9327a07f9aca47b69cfd926c79d71	Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by @DISEASE$ associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, @PHENOTYPICFEATURE$ and neural-migration defects.	has_symptom
+3139d62ea261a405090090e84f8b14936aec0f28	@DISEASE$ (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with @PHENOTYPICFEATURE$, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects.	false
+2b10df6febf4acb339d7e63425958de8db650cc0	Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by @DISEASE$ associated with @PHENOTYPICFEATURE$, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects.	false
+66a662053566f31037f83ae915e8bce4d116ba02	Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with @PHENOTYPICFEATURE$, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, @DISEASE$ and neural-migration defects.	false
+5ebe3ad3a7b28e5e97daa4c2f0c36c888adfe138	The patient presented with @PHENOTYPICFEATURE$, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in @DISEASE$.	has_symptom
+4bd54dd115393d20ff86eff381553db77873774a	The patient presented with @DISEASE$, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), @PHENOTYPICFEATURE$, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome.	false
+9e87154b934e4c0e9191d259a0d6923a2d425152	The patient presented with growth retardation, hypotonia, trigonocephaly, @DISEASE$, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), @PHENOTYPICFEATURE$, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in Jacobsen syndrome.	false
+021cdf1b015f097f2505bbbfac48b2dd6ab91277	The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), @PHENOTYPICFEATURE$, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in @DISEASE$.	false
+ad7f7829e9f99dd02a68517931e9702902f3d7fb	@DISEASE$ (JS) is a disorder of developmental delay, @PHENOTYPICFEATURE$, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies.	has_symptom
+8058042836c9c8300beb2f49e9db56b9019f5e53	@DISEASE$ (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and @PHENOTYPICFEATURE$, among other congenital anomalies.	false
+6fa26d2ba889f2b6aec3cf267e136efec8ed45a3	Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and @PHENOTYPICFEATURE$, among other @DISEASE$.	false
+1ab1c7427dcafee4ba14c000b57b32ecd573fa64	Jacobsen syndrome (JS) is a disorder of developmental delay, @DISEASE$, thrombocytopenia, dysmorphic features, and @PHENOTYPICFEATURE$, among other congenital anomalies.	false
+363444ac2bbea3259a2db82a7a5218859ff003cb	Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, @DISEASE$, dysmorphic features, and @PHENOTYPICFEATURE$, among other congenital anomalies.	false
+def6a159fae946789d8872ac6afc9ea27bc7db3b	11q23 deletion syndrome, also known as @DISEASE$, is characterized by @PHENOTYPICFEATURE$, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.	has_symptom
+67d8992e3e959840f6efe752a94d9cdd78a18236	11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, @PHENOTYPICFEATURE$, multiple congenital abnormalities, and @DISEASE$.	false
+60a49d4d9b6f0a86dc8fd4841f355194e3c952d6	11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, @PHENOTYPICFEATURE$, multiple @DISEASE$, and thrombocytopenia.	false
+29db9df4c9cbe314ecb7795e153f0cc3edc7a7a0	11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by @DISEASE$, psychomotor retardation, @PHENOTYPICFEATURE$, multiple congenital abnormalities, and thrombocytopenia.	false
+e600a459267017eb340d7c2d6eb179ff2b2c7dc6	11q23 deletion syndrome, also known as @DISEASE$, is characterized by growth retardation, psychomotor retardation, @PHENOTYPICFEATURE$, multiple congenital abnormalities, and thrombocytopenia.	false
+d3516d697f2723ee9e77cba9c7e4e1ccd31f2fa0	@DISEASE$ is a hereditary disorder characterized by a deficiency of liver/bone/kidney alkaline phosphatase activity in serum and tissues with defective bone mineralization, bone deformities, @PHENOTYPICFEATURE$, early loss of teeth, and craniosynostosis.	has_symptom
+b849778148b1c4a6548cfc3999c71ae7c0d826fe	@DISEASE$ is an osseous dysplasia with highly variable clinical expression, ranging from a recessive lethal prenatal type to late onset dominant @PHENOTYPICFEATURE$ with premature shedding of teeth.	has_symptom
+b48ddcb104606aa41ce07a07ea79c326a3c978ca	@PHENOTYPICFEATURE$ and central nervous system @DISEASE$.	has_symptom
+48797ff7a735f1eaa33697e0a1d4f3766d6bcb89	Disruption of ALX1 causes extreme @PHENOTYPICFEATURE$ and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related @DISEASE$.	has_symptom
+751841ffeecd778d100db6d57c6e0372a85d71ab	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @PHENOTYPICFEATURE$.	has_symptom
+57b05270858e21cdb67e616787e496fa73ba2a01	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @DISEASE$.	false
+5c83d29f337045a31bc8a5d47c7eaa9130ebab1a	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+ac3cad909266e989c3086bf35a5d2385d0c3a5f2	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @DISEASE$.	false
+c12ec59e0430fcfcbb3a2818f42070cdebc534ee	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+751841ffeecd778d100db6d57c6e0372a85d71ab	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @PHENOTYPICFEATURE$.	has_symptom
+57b05270858e21cdb67e616787e496fa73ba2a01	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @DISEASE$.	false
+5c83d29f337045a31bc8a5d47c7eaa9130ebab1a	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+ac3cad909266e989c3086bf35a5d2385d0c3a5f2	Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and @DISEASE$.	false
+c12ec59e0430fcfcbb3a2818f42070cdebc534ee	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+b062bfd62671fd60c399f4ddc8d2e4ba5b9dd580	Short stature, microcephaly, characteristic face, syndactyly and @PHENOTYPICFEATURE$: the @DISEASE$.	has_symptom
+d671563a6e5c6c5597f2bab806b7b8da7a59e7e5	@PHENOTYPICFEATURE$, microcephaly, characteristic face, syndactyly and @DISEASE$: the Filippi syndrome.	false
+ed2c9c30faaa2e51173a68da10db0caa02e3d437	Short stature, @PHENOTYPICFEATURE$, characteristic face, syndactyly and mental retardation: the @DISEASE$.	false
+d274a7c6e49cd6946ae086943de55789097a15d6	Short stature, @PHENOTYPICFEATURE$, characteristic face, syndactyly and @DISEASE$: the Filippi syndrome.	false
+bd0ab59ba2a091d7011ca005c3bc655bfe84cbf3	Short stature, microcephaly, characteristic face, @PHENOTYPICFEATURE$ and @DISEASE$: the Filippi syndrome.	false
+8c7a2b8b9b0f0f3c97ccd9b1a0bc3e33aa0b71df	@PHENOTYPICFEATURE$, microcephaly, characteristic face, syndactyly and mental retardation: the @DISEASE$.	false
+fa543ddf7fd29bf79b351ce74d7b4144a4dba24c	Short stature, microcephaly, characteristic face, @PHENOTYPICFEATURE$ and mental retardation: the @DISEASE$.	false
+e57f98a48f01722304bbba8c4a304d39abffd85c	The absence of any clinical symptoms in the mother despite a clear @DISEASE$ and @PHENOTYPICFEATURE$ emphasizes the heterogeneity of this disease.	has_symptom
+90f7f6a76d20e4e18086d8d6a036cdeb01adf9a1	This paper reports on @DISEASE$ which is characterized by mental retardation, growth failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral @PHENOTYPICFEATURE$, horizontal and rotational nystagmus, strabismus and a small pointed nose with depressed root.	has_symptom
+b79cd84444f4be2bdb2be9cfa0b5b1b5cc71f997	This paper reports on Mietens' syndrome which is characterized by mental @PHENOTYPICFEATURE$ failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral @DISEASE$, horizontal and rotational nystagmus, strabismus and a small pointed nose with depressed root.	false
+9c19a0f0ff1979d84cf88c2003903a1e367b4b35	This paper reports on @DISEASE$ which is characterized by mental @PHENOTYPICFEATURE$ failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational nystagmus, strabismus and a small pointed nose with depressed root.	false
+da08900656d3811ad98a475c6e5c50bcbba5e305	A @PHENOTYPICFEATURE$ young woman with severe behaviour problems was found to excrete large amounts of glutathione due to a generalized @DISEASE$.	has_symptom
+19a537d98c590d4119c3ac27e3e35ec7e9784191	Psychological and cognitive evaluation of @PHENOTYPICFEATURE$ in a patient with @DISEASE$: a case report and literature review.	has_symptom
+9e059bf1e3440c290dab1bc6276cef50d64c84be	@DISEASE$ associated with @PHENOTYPICFEATURE$: a case report.	has_symptom
+f269a2e4975d05c0c1510686f4d0e706ed36fa88	This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (@DISEASE$) associated with @PHENOTYPICFEATURE$.	has_symptom
+43ba37422e093da300231e3ed585091b6ddbe7c9	This is a case report of macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (MOMO syndrome) associated with @DISEASE$.	false
+7e1ccba060e22387a222e8009242ef0038b9d857	This is a case report of macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (@DISEASE$) associated with autism.	false
+c3cd32f85d40a56d6c6ab3cd1620479d9b6b55fe	This is a case report of macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (MOMO syndrome) associated with @DISEASE$.	false
+7f81399265553db3e9f1b93da8ba1ee107801ea9	This is a case report of macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (@DISEASE$) associated with autism.	false
+5bf327cc3c1b0c26fa03f89aab5b356970be6982	@DISEASE$ (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, @PHENOTYPICFEATURE$, opisthotonus, camptodactyly, and typical facial features.	has_symptom
+714a7b5329daa3b2b7f7bc3f74f86b9cc803e49c	The @DISEASE$ is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, @PHENOTYPICFEATURE$, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long philtrum).	has_symptom
+465639f71dba67e13798411f25796be7358906cb	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	has_symptom
+240d2ab2abf1ec12a899677e018bc5eac2999f0c	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @DISEASE$, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+ac2287249c17b4321ade40e140752e6cb9f727a3	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+5b33fd600afd939aa67c712949c40710cbc2958a	The clinical features resembled the @DISEASE$ (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+2fc83ac405584daa4ebb0500d4aa9501eef96c6b	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @DISEASE$, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+e644e64ab4b863980646a12b28470393bc17e5e5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow @DISEASE$, growth deficiency, and @PHENOTYPICFEATURE$.	false
+aa1ea913335e34675f509f8f18fcf7a8ba63969a	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @PHENOTYPICFEATURE$, @DISEASE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+c34e1974962e6eee95a0930c9a15d57bb51d5d9a	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+8d14e1e76261c4134c3285c2ba95e044003e7b88	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+9bcd24945a7e98bc0038a7ca7c13cf31f77c6249	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+94a944f84a04ed332d491d77170c1515c497499b	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow @DISEASE$, @PHENOTYPICFEATURE$, and speech delay.	false
+7d96079158e237d0722faed7bc5dfe5b7ec4c350	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+74cce7e513c5676f72f9fc0c69b4eb55aba4f604	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow @DISEASE$, growth deficiency, and speech delay.	false
+0a96926e6acd7e089726faba98663fc43acd4901	The patient presented with features consistent with @DISEASE$: persistent fever, @PHENOTYPICFEATURE$, lymphadenopathy, anaemia, leucopoenia and markedly elevated serum lactate dehydrogenase and ferritin levels.	has_symptom
+e349cb426b2524e9f0e2f0531e5fbef9376a9c29	Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (@DISEASE$), is characterized by platelet storage pool deficiency, pigment dilution, and deafness as well as @PHENOTYPICFEATURE$.	has_symptom
+99499402540996c254a5e9928c711c2c3b81b242	Mocha (mh), a mouse model for @DISEASE$ (HPS), is characterized by platelet storage pool deficiency, pigment dilution, and @PHENOTYPICFEATURE$ as well as neurological abnormalities.	false
+404b45b2c9e1a49823a7667e9b1056995d58d655	Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (HPS), is characterized by platelet storage pool deficiency, pigment dilution, and @PHENOTYPICFEATURE$ as well as @DISEASE$.	false
+add9883f0e75f78fca4c329314ca4bc0b0a3c19d	Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (@DISEASE$), is characterized by platelet storage pool deficiency, pigment dilution, and @PHENOTYPICFEATURE$ as well as neurological abnormalities.	false
+ba069baa6fd192649cf5166e4b5d2422f8256936	The Asian variant of intravascular lymphoma (AIVL) is a rare non-Hodgkin's lymphoma, characterized by @DISEASE$ and the absence of @PHENOTYPICFEATURE$ or skin lesions, which are typical features of classical IVL.	has_symptom
+d0e06563103126709a005cc88707563055c254b0	The Asian variant of intravascular lymphoma (AIVL) is characterized by @DISEASE$, pancytopenia and hepatosplenomegaly but usually lacks any @PHENOTYPICFEATURE$ and skin lesions, which are typical features of classical intravascular lymphoma (IVL).	has_symptom
+d20362c5407b7e4f9222eb52c198e123e8a19c12	@DISEASE$: hypotonia, cortical blindness, @PHENOTYPICFEATURE$, cardiomyopathy, and cylindrical spirals in skeletal muscle.	has_symptom
+98aa188b3b734a12194dde8dc558df940e34a9fd	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.	has_symptom
+ac6c06ae3e00bdc543ed3809520d9b29a03f20c0	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, @DISEASE$, diabetes, hepatic and renal dysfunction.	false
+c09f87ebff3a21d695624c9fe644d975a8ee78cc	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+576f7f925d3b42ba73ac77db886eeac45eafd946	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, @DISEASE$, hepatic and renal dysfunction.	false
+4849c2b43bcc1a803a05e7d4f3330734189e4b8d	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+4205f19fddc1be393d2b8bdf8d870a476088ff4d	Alstrom syndrome is an extremely rare, autosomal recessive @DISEASE$ characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+c9b8e2ed0ab9a20da99f3656816f1e0f7af4f277	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, @DISEASE$, diabetes, hepatic and renal dysfunction.	false
+452de076b022edc5d45383a044caf0a7b4cb2753	Alstrom syndrome is an extremely rare, autosomal recessive @DISEASE$ characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+c4ae37bbd54665fd1d95f0ca278c6c0bf060094c	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset @DISEASE$, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+36bcfe46a98c0a757c0c2a2a0ee69d26127640ba	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, @DISEASE$, hepatic and renal dysfunction.	false
+7f0426d29fe02b29c6a6c80e8a5ceeb6b7f4fb8f	Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset @DISEASE$, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+adc34d31073440509d54c45cfbc406b259f15c19	@DISEASE$ is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, @PHENOTYPICFEATURE$, type 2 diabetes mellitus and chronic nephropathy.	has_symptom
+33533d489ca686314dad0151b8be0fe0a63500b7	Alstrom syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic @DISEASE$.	false
+ca6204325531eacfa2541193323ef44d2953abe9	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, @DISEASE$, type 2 diabetes mellitus and chronic nephropathy.	false
+d16ed857746b687c245035cdb7be60baa40ba79d	Alstrom syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, obesity, @DISEASE$ and chronic nephropathy.	false
+9fe8da23d394113d70832d5eed4164e00714bc73	@DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy.	false
+ae5284dea25748e194b19d3b8306feff3618e9a4	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, obesity, type 2 diabetes mellitus and chronic @DISEASE$.	false
+53ff731fcab2eb6f379501480444db0307768814	@DISEASE$ is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, obesity, type 2 diabetes mellitus and chronic nephropathy.	false
+08d3b802c36553c442585d4814844f19dd7ffc97	Alstrom syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, type 2 diabetes mellitus and chronic nephropathy.	false
+6a25a07d834f8e4bb03cc63cf2089ea9570e796c	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, obesity, @DISEASE$ and chronic nephropathy.	false
+c4711e226375aa5390411b0a6c57453ba4236a87	@DISEASE$ is characterized by childhood @PHENOTYPICFEATURE$, progressive retinal degeneration, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood.	has_symptom
+64f99aeaa3d6ba9a591c94d443c7b7fbea110571	@DISEASE$ is characterized by childhood obesity, progressive retinal degeneration, and @PHENOTYPICFEATURE$ with diabetes mellitus (DM) developing later in childhood and adulthood.	false
+a67366cd7aa7fc718530a744c099a9457902d7ce	Alstrom syndrome is characterized by childhood @DISEASE$, progressive retinal degeneration, and @PHENOTYPICFEATURE$ with diabetes mellitus (DM) developing later in childhood and adulthood.	false
+80876ecc2e62579f3b88833f68e2c5850a4e61c9	Alstrom syndrome is characterized by childhood obesity, progressive @PHENOTYPICFEATURE$, and sensorineural hearing loss with @DISEASE$ (DM) developing later in childhood and adulthood.	false
+90f7994cfc1d4320d1675e96363b2c35d4cb0509	Alstrom syndrome is characterized by childhood @DISEASE$, progressive @PHENOTYPICFEATURE$, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood.	false
+f8fabeb5a2258aa434af3ad662bba49a8b8fc2a4	Alstrom syndrome is characterized by childhood obesity, progressive retinal degeneration, and @PHENOTYPICFEATURE$ with @DISEASE$ (DM) developing later in childhood and adulthood.	false
+7004fba400eecc94d355afd6ef1fc3371974ef67	@DISEASE$ is characterized by childhood obesity, progressive @PHENOTYPICFEATURE$, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood.	false
+8d3099248694b739e13c36e46abe6ff32e805a42	Rare case of @DISEASE$ without @PHENOTYPICFEATURE$ and with short stature, diagnosed in adulthood.	has_symptom
+604f6ae9ab943d7f6eb9d9cfa6e184bd2b76aac4	Rare case of @DISEASE$ without obesity and with @PHENOTYPICFEATURE$, diagnosed in adulthood.	false
+b99fd018d7e15377f1d054d267a7a481e6e4cc93	Rare case of Alstrom syndrome without @DISEASE$ and with @PHENOTYPICFEATURE$, diagnosed in adulthood.	false
+1c3c1c5383013b2f1b184ab93e94e3bf90671dd1	@DISEASE$ is a rare disorder characterized by early @PHENOTYPICFEATURE$, loss of central vision, diabetes mellitus, hearing loss and short stature.	has_symptom
+3aa3ae7f210047fb8d560dc4994981d2dc63e22e	Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b4234e43f3d48f58b5e69847ab7cc074f6b28363	@DISEASE$ is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and @PHENOTYPICFEATURE$.	false
+0d6554b72671b6adfd2a17a99df4ae8b25b7e66a	Alstrom syndrome is a rare disorder characterized by early @DISEASE$, loss of central vision, diabetes mellitus, hearing loss and @PHENOTYPICFEATURE$.	false
+348d23bc38ae0cda8745ad2aa6f38087b43490ee	Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, @DISEASE$, hearing loss and @PHENOTYPICFEATURE$.	false
+9c1c097ee978bcfd292ef7890526226913e68738	@DISEASE$ (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @PHENOTYPICFEATURE$ and seizures.	has_symptom
+60a93c73a1ba7419700add68852288d9ce73ab4d	@DISEASE$ (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and @PHENOTYPICFEATURE$.	false
+0c11e9c643d3aa2dbecb573e6a61218470873f42	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), @DISEASE$, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and @PHENOTYPICFEATURE$.	false
+aaac16bdab35c203848e2f39833eab6fd6f0b1e7	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dc00d7dfdbad306e84f9fb35edd82709ac123893	One patient died at age 14 months after a protracted course characterized by the @DISEASE$, blood chemistry abnormalities, hypertension, @PHENOTYPICFEATURE$, and a microangiopathic hemolytic anemia.	has_symptom
+131414e176c324dda64b9cfff868804cf8301207	There was no family history of @DISEASE$ or end-stage renal failure, but his mother had a moderate mental retardation complicated by @PHENOTYPICFEATURE$.	has_symptom
+8de7064a611a7083f372c00c9274e396ba41f555	The patient's presentation was more severe as she presented with @PHENOTYPICFEATURE$, @DISEASE$, and subarachnoid hemorrhage.	has_symptom
+50ccf701c659506c6c4985e68dc35560322a2f9d	We report a 2-year-old girl with @DISEASE$, microcephaly, @PHENOTYPICFEATURE$ and psychomotor retardation.	has_symptom
+aca0f9f8e8d42e5950bb381604b77af7698f883b	We report a 2-year-old girl with nephrotic syndrome, @PHENOTYPICFEATURE$, @DISEASE$ and psychomotor retardation.	false
+a861eb64a3e20f20b135b014f86c2f7a100dd0b4	We report a 2-year-old girl with @DISEASE$, @PHENOTYPICFEATURE$, seizures and psychomotor retardation.	false
+8be943b9950ac276b3d2f560ae4a1a0d0cd58d4f	Chlorambucil-induced @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+407905f96ba1ef96c518366d0327040bdb9bf514	Sequential neuroimaging before and after @PHENOTYPICFEATURE$ has not been reported in patients with @DISEASE$ and recurrent posterior reversible encephalopathy syndrome (PRES).	has_symptom
+9e592873c4b753435d5480532c88e0408c64ca2c	We report the case of a boy presenting with an early @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and psychomotor retardation.	has_symptom
+6775ca0be5d945e3cb1f84bae362186f2606502e	We report the case of a boy presenting with an early @DISEASE$, @PHENOTYPICFEATURE$, seizures, and psychomotor retardation.	false
+8f177546197bb06298ec6d69fac012853748a295	We report the case of a boy presenting with an early nephrotic syndrome, @PHENOTYPICFEATURE$, @DISEASE$, and psychomotor retardation.	false
+4783b820f0ddb96f1ed58143b8f9d4144b7a9174	In "atypical KD", the clinical picture is dominated by an unusual symptom as @PHENOTYPICFEATURE$, bloody diarrhea, compressive cervical adenopathy, @DISEASE$ or hyponatremia.	has_symptom
+f1014e07b304b586d622ed18654c1d24a3fc0fc0	Younger patients showed a poorer prognosis with more @PHENOTYPICFEATURE$, gastrointestinal involvement, @DISEASE$, and a higher rate of mortality than the other groups.	has_symptom
+ec0f4eba7f65e6afdd9d2d65db4b8f6bcf75d7ea	A relatively high incidence of chlorambucil-induced @PHENOTYPICFEATURE$ in children with @DISEASE$ may be due to an increased sensitivity in childhood or altered pharmacokinetics.	has_symptom
+af799e4ff224874557beba87621de77b6b6a7916	@PHENOTYPICFEATURE$ are frequently reported in @DISEASE$ (MWS).	has_symptom
+b82a4ed3b1b817c66c725a19f3b1e3af4e90c114	We conclude that @DISEASE$ is associated with neurological complications: stroke and febrile seizures in children, @PHENOTYPICFEATURE$, paraplegia and localized sensory neuropathy in adolescents and adults, headache in children and adolescents.	has_symptom
+5f6a455501d9259034e69c77c8b726a5fb7bd687	We conclude that SCA is associated with neurological complications: stroke and @PHENOTYPICFEATURE$ in children, epileptic seizures, @DISEASE$ and localized sensory neuropathy in adolescents and adults, headache in children and adolescents.	false
+45b1156387607846af15a9cd01a6582b585dbb27	We conclude that SCA is associated with neurological complications: stroke and @PHENOTYPICFEATURE$ in children, epileptic seizures, paraplegia and localized @DISEASE$ in adolescents and adults, headache in children and adolescents.	false
+27e890c23f6208ed04e9ccca2a717ed9eb11851b	We conclude that @DISEASE$ is associated with neurological complications: stroke and @PHENOTYPICFEATURE$ in children, epileptic seizures, paraplegia and localized sensory neuropathy in adolescents and adults, headache in children and adolescents.	false
+0ae310c5a997d4c185e4d5ee00dad671bb44b0f4	We conclude that SCA is associated with neurological complications: stroke and @PHENOTYPICFEATURE$ in children, @DISEASE$, paraplegia and localized sensory neuropathy in adolescents and adults, headache in children and adolescents.	false
+7ea2276f777b014c4a9c2db18066e737a4ebacb4	It is commonly thought that @DISEASE$ in epilepsy occurs after a @PHENOTYPICFEATURE$, though the strength of evidence supporting this is limited.	has_symptom
+8bc735a614c12cff58e564af28ba2f4e6a9164cb	We sought to evaluate the relationship between @PHENOTYPICFEATURE$ and @DISEASE$ in patients with epilepsy.	has_symptom
+9e06e80a2fc993884182c2ef8f9250b5bff5161f	Physicians attending to young adults with @DISEASE$ should specifically attempt to elicit a history of @PHENOTYPICFEATURE$ in their patients.	has_symptom
+0f1cbf2c58d35f382173b31e0dbb332f0a5a2b0d	Our findings suggest that though epilepsy is common in @DISEASE$ and the @PHENOTYPICFEATURE$ seen are liable to poor control and increased risk for mortality, the patient is unlikely to present voluntarily for therapy.	has_symptom
+11bd4bfd520cc133c1d7e080b653288237809837	Medical responders should be well trained and rehearsed in the recognition of @DISEASE$, including distractors such as @PHENOTYPICFEATURE$, myoclonic jerks and agonal (gasping) breathing.	has_symptom
+398a17a3d727f20f464aa7785c537d203b8760ac	We report a 15 year-old male with @DISEASE$ who presented with significant short stature after a near death event (involving @PHENOTYPICFEATURE$ and prolonged hypoxia).	has_symptom
+aae59cca0521a29fbf326627c66b170d33989467	We report a 15 year-old male with @DISEASE$ who presented with significant @PHENOTYPICFEATURE$ after a near death event (involving seizures and prolonged hypoxia).	false
+d701e1fbd3a0c8214d5333774cc1dd184f123684	We report a 15 year-old male with SCA who presented with significant @PHENOTYPICFEATURE$ after a near death event (involving @DISEASE$ and prolonged hypoxia).	false
+4c5c9b1ec91c0c378872ba44b333cbfffb7a2563	In this cross-sectional study, we evaluated the clinical history and baseline laboratory values and performed magnetic resonance imaging of the brain in participants with @DISEASE$ (HbSS or HbS?? thalassemia) between the ages of 5 and 15 years with no history of overt stroke or @PHENOTYPICFEATURE$.	has_symptom
+91db908affa524d6e9afd10be02cfdd3e90f6711	Associated signs of @DISEASE$ such as agonal respirations and @PHENOTYPICFEATURE$-like movements were observed in 66% of the cases.	has_symptom
+0581a85c8a5a7d26704d98f49e92e1539d5bb8c4	In the majority (66%) of epilepsy patients, there was no relationship between seizure and SCA, implying that @DISEASE$ in epilepsy patients often may not involve @PHENOTYPICFEATURE$ as a trigger.	has_symptom
+e25d0955d65b55d2385bdaf7b816f16c47da92f0	In the majority (66%) of epilepsy patients, there was no relationship between @PHENOTYPICFEATURE$ and SCA, implying that @DISEASE$ in epilepsy patients often may not involve seizure as a trigger.	has_symptom
+b5d0ca8077e28e9ecc667d7f2d8629f6523c6e35	The availability of high-sensitive and specific serologic tests such as antitissue transglutuminase, antiendomysium, and more recent antideamidated, gliadin peptide antibodies permits to efficiently uncover a large portion of the submerged CD iceberg, including individuals having conditions associated with a high risk of developing CD (type 1 diabetes, @DISEASE$, Down syndrome, family history of CD, etc.), biologic abnormalities (iron deficiency anemia, abnormal transaminase levels, etc.), and extraintestinal symptoms (@PHENOTYPICFEATURE$, neuropsychiatric disorders, alopecia, dental enamel hypoplasia, recurrent aphtous stomatitis, etc.).	has_symptom
+b47759039dd9c5ff716990dc8bc3dc9d23f64157	Celiac disease should be specially investigated in patients with recurrent iron deficiency anemia, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3cedaeaad5e25ac73472ce2b664f6b6f414bd4cf	Prevalence of @PHENOTYPICFEATURE$, low fertility, clinical osteoporosis, cancer, and @DISEASE$ were assessed in each celiac group and compared with a control group matched for gender and age.	has_symptom
+6aa9b29f7aa5fe2defca81b9af672cd3fc4cd16a	Down's Syndrome patients are known to be of @PHENOTYPICFEATURE$, prone to infections, @DISEASE$, hypothyroidism, leukaemia, heart defects and later Alzheimer's disease.	has_symptom
+b013fa333df80d6edb33f834cce19fecc0d2b13e	Down's Syndrome patients are known to be of short stature, prone to infections, autoimmune disease, @DISEASE$, leukaemia, @PHENOTYPICFEATURE$ and later Alzheimer's disease.	false
+512c1ba291e9314e28bdbe6d45e75ebfda05d1cd	Down's Syndrome patients are known to be of short stature, prone to infections, autoimmune disease, hypothyroidism, @PHENOTYPICFEATURE$, heart defects and later @DISEASE$.	false
+487df7793c7906e7aab720b3114f9a43f94ed744	Down's Syndrome patients are known to be of short stature, prone to infections, @DISEASE$, hypothyroidism, leukaemia, @PHENOTYPICFEATURE$ and later Alzheimer's disease.	false
+6b2b3acc79b05a76afb016de192b794a88eb6ba5	Down's Syndrome patients are known to be of short stature, prone to infections, autoimmune disease, @DISEASE$, @PHENOTYPICFEATURE$, heart defects and later Alzheimer's disease.	false
+6a04c92eb2dd6cf35a4c1f6aef24ec68a54108f3	Down's Syndrome patients are known to be of short stature, prone to infections, autoimmune disease, hypothyroidism, leukaemia, @PHENOTYPICFEATURE$ and later @DISEASE$.	false
+5cdfbee873b12d7c6a1faf36f402c598ba34b6b0	Down's Syndrome patients are known to be of @DISEASE$, prone to infections, autoimmune disease, hypothyroidism, leukaemia, @PHENOTYPICFEATURE$ and later Alzheimer's disease.	false
+fd056775f539dcc10927fe2faaeed312d67f058e	Down's Syndrome patients are known to be of @DISEASE$, prone to infections, autoimmune disease, hypothyroidism, @PHENOTYPICFEATURE$, heart defects and later Alzheimer's disease.	false
+935bff3c9dc454a8ab4f0a57dda70a8770fb41ae	Down's Syndrome patients are known to be of short stature, prone to infections, @DISEASE$, hypothyroidism, @PHENOTYPICFEATURE$, heart defects and later Alzheimer's disease.	false
+ce553f16facd8259ab4e0c2546344a5ba9e3131c	@DISEASE$ (HCC) is a highly aggressive and @PHENOTYPICFEATURE$ disease.	has_symptom
+c329060f65983148478dab1fbd1f9de0295c5302	@DISEASE$ comprises of a group of @PHENOTYPICFEATURE$ tumors of different etiologies.	has_symptom
+475fe4b05ffea61d76826081b2d138ee5a6b934b	Hepatocellular carcinoma comprises of a group of @DISEASE$ @PHENOTYPICFEATURE$ of different etiologies.	false
+722a04d707ea6f1ad0a03afcc4dd9f488e4f90ea	@DISEASE$ comprises of a group of heterogeneous @PHENOTYPICFEATURE$ of different etiologies.	false
+ae17ee90c14031e7dc20e8400bf413f4e807e946	Our objective was to document the prevalence of @PHENOTYPICFEATURE$ lesions in children with juvenile polyposis coli or juvenile polyposis coli and their first degree relatives.Children seen in the gastroenterology practice at The Children's Hospital in Denver, Colorado with polyps (juvenile polyposis coli, sporadic juvenile polyps, and @DISEASE$) and their first degree relatives were invited to participate in the study.	has_symptom
+0bc4ee4e89cffd8e5e67100c35a66904df1cbc42	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, @PHENOTYPICFEATURE$, polydactyly, renal abnormalities, and hypogenitalism.	has_symptom
+71b60cc447b2e4ab3ce128cd5a9b2e9dfbca1a10	@DISEASE$ (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, @PHENOTYPICFEATURE$, polydactyly, renal abnormalities, and hypogenitalism.	has_symptom
+4c9cd454bab0cf20426fbb3fa4ba7afc40110cba	@DISEASE$ (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, @PHENOTYPICFEATURE$, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism.	false
+695e70209be1ccc727366fa2d8b1427e896ffd0e	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, @DISEASE$, @PHENOTYPICFEATURE$, renal abnormalities, and hypogenitalism.	false
+e068b9c185939d82e3308f7fe696bf66cc48061a	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, renal abnormalities, and hypogenitalism.	false
+d31634bab8790566ec2e6861124d8a89e3e78a4f	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous disorder that results in retinal degeneration, @PHENOTYPICFEATURE$, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism.	false
+6b8b909806a1beb76e6cadb48a50de52b34dd234	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, @PHENOTYPICFEATURE$, renal abnormalities, and hypogenitalism.	false
+7d9677dd68032e014fdc60f17a49ae3d9c07ca68	@DISEASE$ (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, @PHENOTYPICFEATURE$, renal abnormalities, and hypogenitalism.	false
+5358d4bc133f983a271dcbc201943307becf5ea0	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in @DISEASE$, @PHENOTYPICFEATURE$, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism.	false
+b82d775581ddd7d702d569f5c47c1b1997e8779c	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in @DISEASE$, obesity, cognitive impairment, @PHENOTYPICFEATURE$, renal abnormalities, and hypogenitalism.	false
+a4d7737320bb7af823699d93d7506edf9674deac	Bardet-Biedl Syndrome (@DISEASE$) is a rare genetic condition characterized by @PHENOTYPICFEATURE$, dysmorphism, central obesity, and diabetes mellitus, among other abnormalities.	has_symptom
+ec09194ceeb8733f78fe6a2521156f46fe4f4361	@DISEASE$ (BBS) is a rare genetic condition characterized by @PHENOTYPICFEATURE$, dysmorphism, central obesity, and diabetes mellitus, among other abnormalities.	has_symptom
+37abaa6d938b390f260f6fe4d65256f95a4c5c7b	We describe the second such patient with @DISEASE$ and hyperammonemia, associated with fluctuating @PHENOTYPICFEATURE$.	has_symptom
+fe6ae5b20129b710976b74a6a0e5940ec05c7c34	@PHENOTYPICFEATURE$ was significant associated with @DISEASE$ (?=-7.28,	has_symptom
+7c84d96247ecfd23ef44ed731bfe995d2240a7e6	Bardet-Biedl syndrome (@DISEASE$), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and @PHENOTYPICFEATURE$.	has_symptom
+a1b282bfc92885d4ede168a95b02f27b314fc8a3	@DISEASE$ (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and @PHENOTYPICFEATURE$.	has_symptom
+d6a5e4c1d27e2d06e90c3d03fd6dd262bf709aec	@DISEASE$ (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, kidney failure, and cognitive impairment.	false
+c51d03102a4e4a2cf55e17773a886ece01f4adc9	Bardet-Biedl syndrome (@DISEASE$), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, kidney failure, and cognitive impairment.	false
+593da4ecad1ed81159dcd117f45a0352991ae285	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by @PHENOTYPICFEATURE$, obesity, kidney failure, and @DISEASE$.	false
+c02fcc472fa43b8310e8843d330edf0306f693dc	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, @DISEASE$, and cognitive impairment.	false
+70ced572c21e3a5e42a58eeae7cc9aeabf8fe1f0	@DISEASE$ (BBS), a ciliopathy, is a rare genetic condition characterised by @PHENOTYPICFEATURE$, obesity, kidney failure, and cognitive impairment.	false
+82ca36679bc680c255b55c9b2b1992a5e602c91b	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, kidney failure, and @DISEASE$.	false
+04f10e7f9ff1e4a7ef9081d05f82d3f8152bb06b	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by @PHENOTYPICFEATURE$, obesity, @DISEASE$, and cognitive impairment.	false
+96d9ffa4d485e90b22f36fae65bc07f55dfe01db	Bardet-Biedl syndrome (@DISEASE$), a ciliopathy, is a rare genetic condition characterised by @PHENOTYPICFEATURE$, obesity, kidney failure, and cognitive impairment.	false
+a67b53392d874c384dd95df914345160f06a16dc	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, @PHENOTYPICFEATURE$, polydactyly, and hypogonadism.	has_symptom
+3ba3eb6629daa08f29b8438ed92f2fa9017488cc	@DISEASE$ (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, @PHENOTYPICFEATURE$, polydactyly, and hypogonadism.	has_symptom
+97b5b776b90f122dd8a229f81b0f93ef48ea6e32	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+652fc7e4f40049988e4440371ea4222b7ed2f523	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, @PHENOTYPICFEATURE$, and hypogonadism.	false
+6d850fe4232197955056dd6e8bab38a78d3b65d8	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central @DISEASE$, mental impairment, @PHENOTYPICFEATURE$, and hypogonadism.	false
+9c497b5f5dbb945aab50a96bdc3acc8e101f2e41	@DISEASE$ (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, @PHENOTYPICFEATURE$, and hypogonadism.	false
+f0c50b83f912ccfeaf5cf92711cec05970b5b3b1	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+4f945e51d89b03041fab848517237e1a58fa53ef	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by @DISEASE$, renal dysfunction, central obesity, mental impairment, @PHENOTYPICFEATURE$, and hypogonadism.	false
+ac108c1d847b7a05dd40d8507f11514c9e165d59	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, @PHENOTYPICFEATURE$, and developmental delays.	has_symptom
+d30b128171258b0b3eb8bb92b4ea75848acf82ab	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, short stature, @PHENOTYPICFEATURE$, and developmental delays.	has_symptom
+2f45c362617b8201c99e0dae7782bbc2a4fc4fe2	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, @PHENOTYPICFEATURE$, short stature, cognitive impairment, and developmental delays.	false
+17fbff7796eb9c6cc8cba9b3e243e9ccfe1f8b49	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, @PHENOTYPICFEATURE$, short stature, cognitive impairment, and developmental delays.	false
+c8bcf8d8afb3c0d255b540e265befed9637b74ca	Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, @PHENOTYPICFEATURE$, @DISEASE$, and developmental delays.	false
+1601b1433d801475aa4a8f470aab4a4ae3c0881e	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including @PHENOTYPICFEATURE$, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays.	false
+6c5b7447ee91e49880df8e46b6ed21a8987c53d1	Bardet-Biedl syndrome, @DISEASE$, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, @PHENOTYPICFEATURE$, cognitive impairment, and developmental delays.	false
+ceab810f544d1049f9872d55cb153443b428ec43	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including @PHENOTYPICFEATURE$, retinopathy, hyperphagia, obesity, short stature, cognitive impairment, and developmental delays.	false
+4818c268bc95227243ee911dccb32f41260b31a1	Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including @PHENOTYPICFEATURE$, retinopathy, hyperphagia, obesity, short stature, @DISEASE$, and developmental delays.	false
+7a064c08ff6bf73d3f7c149b56ccde25dede508b	@DISEASE$, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, obesity, @PHENOTYPICFEATURE$, cognitive impairment, and developmental delays.	false
+75f1745defbff502e0bfc8bac56be0bfdd5e988d	Bardet-Biedl syndrome, BBS, is a rare autosomal recessive disorder with clinical presentations including polydactyly, retinopathy, hyperphagia, @PHENOTYPICFEATURE$, short stature, @DISEASE$, and developmental delays.	false
+97280985df7c00d9c7eb1d5f5f50f507ad5aa04a	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by central obesity, @PHENOTYPICFEATURE$, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities.	has_symptom
+dcdf174ba5e2d60794fc10c7a9b79efd5ab2692f	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by central obesity, @PHENOTYPICFEATURE$, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities.	has_symptom
+99b5b036cfebca2692242435d190144100c70b4d	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, @PHENOTYPICFEATURE$, hypogonadism in males, and renal abnormalities.	false
+d75ea37cfbab72bf72e5a878e0d8c54d8f018d2d	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, @DISEASE$, rod-cone dystrophy, @PHENOTYPICFEATURE$, hypogonadism in males, and renal abnormalities.	false
+9d9421f626efd5c130bbb99e9ae9b1e3362c61ab	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, @PHENOTYPICFEATURE$, hypogonadism in males, and renal abnormalities.	false
+05f65b7ea30f69b7349c8afe57eeb1a5a7e11b47	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-@DISEASE$, @PHENOTYPICFEATURE$, hypogonadism in males, and renal abnormalities.	false
+50eaa51c74f433d586bd7cfba060ce9c7f11504b	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central @DISEASE$, mental impairment, rod-cone dystrophy, @PHENOTYPICFEATURE$, hypogonadism in males, and renal abnormalities.	false
+c78db2503f38cc3d1b682c782a175a383dd9d36c	@DISEASE$ (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and @PHENOTYPICFEATURE$.	has_symptom
+0eb51bb5501370de15dc406ff57a1b0eb0537df9	Bardet-Biedl syndrome (@DISEASE$) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and @PHENOTYPICFEATURE$.	has_symptom
+4d2f8ce60a15ea11799b85acfcc02a04b0d8a3f8	@DISEASE$ (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogonadism, renal and cognitive impairment.	false
+a81ee23ead9d198f73136d62322a219e458a4d65	Bardet-Biedl syndrome (@DISEASE$) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogonadism, renal and cognitive impairment.	false
+0e977b4c6d975f1c37cd16ae5d2633c54a92e033	Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, hypogonadism, renal and @DISEASE$.	false
+5fc84ae1fd683dd41786a5994b690ebfc205fc1c	@DISEASE$ (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, hypogonadism, renal and cognitive impairment.	false
+1076fb863885bab505ef0b7da28fd90f9992fd15	Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, hypogonadism, renal and cognitive impairment.	false
+549944a175cce48b4e33f9cc371f7eb3c5f665bc	Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogonadism, renal and @DISEASE$.	false
+dd5d27110dab0506cee7739db9ec62cc65ff6c98	Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset @DISEASE$, @PHENOTYPICFEATURE$, obesity, hypogonadism, renal and cognitive impairment.	false
+0a3fa51b4fa0694833460cb21b7439d0f5659706	Bardet-Biedl syndrome (@DISEASE$) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, hypogonadism, renal and cognitive impairment.	false
+38fcb369758c64553ed3b454c3ad06df0001a8cc	Treatable fluctuating @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+b4d83c3c10c08d9daeb4fb0a63d45738fe759ac0	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @PHENOTYPICFEATURE$ epilepsy, visual impairment and ataxia in the second or third decade of life.	has_symptom
+0801cb4cf050ca30ea8cd5a844a0233501981321	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, @DISEASE$, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, visual impairment and @PHENOTYPICFEATURE$ in the second or third decade of life.	false
+bb264c2215e9af2a8daf0878873b4d360313a584	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, visual impairment and @PHENOTYPICFEATURE$ in the second or third decade of life.	false
+d568c21a46b83f8372c65215bea2da53685ee68e	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @DISEASE$ epilepsy, @PHENOTYPICFEATURE$ and ataxia in the second or third decade of life.	false
+9fd35e01ba0491ff268f2c76cdbabe45c1f6a5a3	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, @DISEASE$, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @PHENOTYPICFEATURE$ and ataxia in the second or third decade of life.	false
+e4d3db4127ba65788ab7781f4e7d837df09a1fa0	Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop @DISEASE$ epilepsy, visual impairment and @PHENOTYPICFEATURE$ in the second or third decade of life.	false
+01c92dff44a3bf5ae1861e9941d3f7d2b08aea66	@DISEASE$, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, @PHENOTYPICFEATURE$ and ataxia in the second or third decade of life.	false
+c4b626118732c29d60bdbb95ae9c010ee7876e66	@DISEASE$ (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+be2c75b9b3757011dbb834269bdcc0b3ff45ae90	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+0a2b2d99136ece20134756aa33dff51bd4ccc7fc	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+6c12001b9c02981d61114fd42a472d96eaba8748	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+2c4ea62d2fa167a065432857bf38e2fb702c93b5	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, @DISEASE$ and eye defects.	false
+b8919203690d10f3d2205497e1e19aed5f29ca94	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, @DISEASE$ or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+fd73e0b66f0d2faf8dab12d8afff1ddff1ad63c3	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, @DISEASE$ and eye defects.	false
+6867aea179b2f2de9367fbf418986982d3191ac3	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple congenital anomaly @DISEASE$ characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+5a3bd38838b5f46f75573aaf8e5889d6210d0402	Mowat-Wilson syndrome (MWS) is a recently delineated @PHENOTYPICFEATURE$; a multiple @DISEASE$ syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects.	false
+0cf662a951edee013ebba4894408a7e04772a94d	@DISEASE$ (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, agenesis of corpus callosum and eye defects.	false
+d1ccec3981089f248bb5421229dfcb5c2206dff0	Seventy-one chronic @DISEASE$ heart failure patients and 68 patients with Hypertensive @PHENOTYPICFEATURE$ heart failure were used in the comparison of QTc interval dispersion.	has_symptom
+5b61e650afc704f3baed544f4afc0f425c54ec4d	Seventy-one chronic Chagas' disease heart failure patients and 68 patients with @PHENOTYPICFEATURE$ @DISEASE$ heart failure were used in the comparison of QTc interval dispersion.	false
+73c45b1b50ca8b685d83471356d61d7a1e6f21d3	Seventy-one chronic Chagas' disease heart failure patients and 68 patients with Hypertensive @DISEASE$ @PHENOTYPICFEATURE$ were used in the comparison of QTc interval dispersion.	false
+d052f187448a2671ec2cdb56b82734413ea03aee	Seventy-one chronic Chagas' disease @PHENOTYPICFEATURE$ patients and 68 patients with Hypertensive @DISEASE$ heart failure were used in the comparison of QTc interval dispersion.	false
+f2ef0b95e0c7cd4dfaef629deb0692f0b7fd2830	Seventy-one chronic @DISEASE$ heart failure patients and 68 patients with @PHENOTYPICFEATURE$ cardiomyopathy heart failure were used in the comparison of QTc interval dispersion.	false
+921bc901db4f5ef34e282eae9a8e1d1266047be1	Seventy-one chronic @DISEASE$ @PHENOTYPICFEATURE$ patients and 68 patients with Hypertensive cardiomyopathy heart failure were used in the comparison of QTc interval dispersion.	false
+1d8e3aa3c2d3a855682411b5842a92d45c51671b	Seventy-one chronic @DISEASE$ heart failure patients and 68 patients with Hypertensive cardiomyopathy @PHENOTYPICFEATURE$ were used in the comparison of QTc interval dispersion.	false
+1bf4c56f8b079e072418d2032dcf4bb2698cc559	Finally, physicians should be able to recognize and treat the most frequent and serious complications of chronic @DISEASE$, namely @PHENOTYPICFEATURE$, megacolon and megaesophagus.	has_symptom
+cd346a7751ba96b3d04a4032c8eb30b9f887a7d7	This designation includes, but is not limited to, arrhythmogenic right/left ventricular @PHENOTYPICFEATURE$, cardiac amyloidosis, sarcoidosis, @DISEASE$, and left ventricular noncompaction.	has_symptom
+dbbde2b4b69b82eebc0bd387e25e6ee2ea49415d	This designation includes, but is not limited to, arrhythmogenic right/left ventricular cardiomyopathy, cardiac amyloidosis, sarcoidosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+fd77ed455dbfc65ed0f56c08ccc6d43b8128ebf0	This designation includes, but is not limited to, arrhythmogenic right/left ventricular cardiomyopathy, cardiac @DISEASE$, sarcoidosis, Chagas disease, and @PHENOTYPICFEATURE$.	false
+357f7400e0b52a233b87f9d4ce94b8d31491e508	This designation includes, but is not limited to, arrhythmogenic right/left ventricular @DISEASE$, cardiac amyloidosis, sarcoidosis, Chagas disease, and @PHENOTYPICFEATURE$.	false
+2705806ec2839ca871e6c2ad38807980732a1f98	Device therapy in @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+cba8866cc6b662cfc25ad537b4387d724e92cf92	[Clinical and laboratory characterization of hypertensive @DISEASE$ patients without evident @PHENOTYPICFEATURE$].	has_symptom
+866ee45f9eb58c3fb5ee2e3dc9027ad8fba6d0be	@DISEASE$ leads to biventricular @PHENOTYPICFEATURE$, usually with prominent systemic congestion.	has_symptom
+9760be974795f557db5dbcdb43505161ffde597d	Because beta-blockers decrease the incidence of sudden cardiac death in non-@DISEASE$ @PHENOTYPICFEATURE$ and sudden cardiac death occurs preferentially in patients with mild Chagas disease heart failure, beta-blockers may be administered first to class I/II patients with Chagas disease heart failure.	has_symptom
+2d5a80fc3a7d5338bec74588f6ebb908a13da858	Because beta-blockers decrease the incidence of sudden cardiac death in non-Chagas disease @PHENOTYPICFEATURE$ and sudden cardiac death occurs preferentially in patients with mild @DISEASE$ heart failure, beta-blockers may be administered first to class I/II patients with Chagas disease heart failure.	has_symptom
+658e0be71a78a13901bb2d4d000176661c9d2b63	Because beta-blockers decrease the incidence of sudden cardiac death in non-@DISEASE$ heart failure and sudden cardiac death occurs preferentially in patients with mild Chagas disease heart failure, beta-blockers may be administered first to class I/II patients with Chagas disease @PHENOTYPICFEATURE$.	has_symptom
+027a3a83c2b5977d34ba7829aa4208b14f8036ee	Because beta-blockers decrease the incidence of sudden cardiac death in non-Chagas disease @PHENOTYPICFEATURE$ and sudden cardiac death occurs preferentially in patients with mild Chagas disease heart failure, beta-blockers may be administered first to class I/II patients with @DISEASE$ heart failure.	has_symptom
+090fb3e64a462cb772e200ee2a894c707ccd3727	Because beta-blockers decrease the incidence of sudden cardiac death in non-Chagas disease heart failure and sudden cardiac death occurs preferentially in patients with mild @DISEASE$ heart failure, beta-blockers may be administered first to class I/II patients with Chagas disease @PHENOTYPICFEATURE$.	has_symptom
+44ab8ad14707ab0fa51e19c8b23cc4e480724872	Because beta-blockers decrease the incidence of sudden cardiac death in non-Chagas disease heart failure and sudden cardiac death occurs preferentially in patients with mild Chagas disease @PHENOTYPICFEATURE$, beta-blockers may be administered first to class I/II patients with @DISEASE$ heart failure.	has_symptom
+1fc0c8c0f0cb2dd5e9d9c542da803dc5060d4348	Because beta-blockers decrease the incidence of sudden cardiac death in non-@DISEASE$ heart failure and sudden cardiac death occurs preferentially in patients with mild Chagas disease @PHENOTYPICFEATURE$, beta-blockers may be administered first to class I/II patients with Chagas disease heart failure.	has_symptom
+cfee261388d734657ead14a95fe81b781029ac9a	Because beta-blockers decrease the incidence of sudden cardiac death in non-Chagas disease heart failure and sudden cardiac death occurs preferentially in patients with mild @DISEASE$ @PHENOTYPICFEATURE$, beta-blockers may be administered first to class I/II patients with Chagas disease heart failure.	has_symptom
+7a3ea16b43ba773ea748f9ee3d67152f2cee7c15	Because beta-blockers decrease the incidence of sudden cardiac death in non-Chagas disease heart failure and sudden cardiac death occurs preferentially in patients with mild Chagas disease heart failure, beta-blockers may be administered first to class I/II patients with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+c8f346ae7eaa6112b060474dc620624d8a206f97	@DISEASE$ patients admitted with decompensated @PHENOTYPICFEATURE$ had worse prognoses than patients with heart failure of other etiologies.	has_symptom
+cd522635ff477781f5310cc21ec3f3da2947701e	@DISEASE$ patients admitted with decompensated heart failure had worse prognoses than patients with @PHENOTYPICFEATURE$ of other etiologies.	has_symptom
+140e302e75d463244b78ea25c11e9abfeb30f433	[Venous endothelial dysfunction in @DISEASE$ patients without @PHENOTYPICFEATURE$].	has_symptom
+ab29a6d9e4d9a80ae495f476d88ef7e12274d4b6	[Clinical and therapeutics aspects of @PHENOTYPICFEATURE$ due to @DISEASE$].	has_symptom
+3fa76c661343cb3e430b440a16554f70a334f230	@DISEASE$ is still a cause of @PHENOTYPICFEATURE$ in South America.	has_symptom
+07f20961f26a272d2cb36272430847a060ec6aca	Patients with @DISEASE$ without @PHENOTYPICFEATURE$ presented venous endothelial dysfunction.	has_symptom
+4f45fa13308493f5286e189d8cf56c42f11de888	@DISEASE$ is one of the main causes of @PHENOTYPICFEATURE$ in developing countries.	has_symptom
+4165f33aafc8fc7eb4ef43a4d4b2122843266e02	@DISEASE$ (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and @PHENOTYPICFEATURE$, and increased risk of skin carcinoma.	has_symptom
+3c08eb9995a48b11c4622dd79c5bab1a92f927e8	@DISEASE$ (XP) and trichothiodystrophy (TTD) are autosomal recessive diseases associated with extreme @PHENOTYPICFEATURE$, a defect in nucleotide excision repair (NER), and genetic complexity.	has_symptom
+108572954aafac35b6eaaa282db79a8f943d0844	Goldberg-@DISEASE$ is a rare autosomal recessive condition that describes the association of Hirschsprung disease with @PHENOTYPICFEATURE$, developmental delay and characteristic facies.	has_symptom
+11105e5b29939d1836539959397cbadec44e646e	A consanguineous family with Hirschsprung disease, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-@DISEASE$).	has_symptom
+b635333ebb78d6c0058209971385113a51e458ec	A consanguineous family with Hirschsprung disease, @DISEASE$, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	false
+e2b67faaccc5dde9f5dbfa059bb145ed868a787a	A consanguineous family with Hirschsprung disease, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-@DISEASE$).	false
+0673b6fc20d6628f7ca746ec1f94ef6e416dbc3d	A consanguineous family with @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$ (Goldberg-Shprintzen syndrome).	false
+0529d1a01cbe8327c7ef07ccdba16128f5b84b6d	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, @PHENOTYPICFEATURE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	has_symptom
+5a079652e49a5e107d642f254d559ff03e145a4f	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+b336a121c37c9a248558390136d6a3484e38b034	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+1e7923f8ea15f5bc91b10737078a234f973396be	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+e4041afa5bd6983a5529674e6ba9b04a9f0ee88c	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic @DISEASE$ features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+5899b59f9267f5b30a8c452d52ae1af6828a6a74	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with agenesis of the corpus callosum and cortical malformations associated with intractable @PHENOTYPICFEATURE$ in one child.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1d549d7c2a466f9f0e8068bf2d0929fa592657b5	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+8ca836401f1232b7c394327024e25b1a0b2f991f	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+bce6f80da3447d5d4b8d2e0ef15f23f6e37ca551	The patients included two children presenting the phenotypic features of the Goldberg-Shprintzen syndrome: distinct dysmorphic facial features, @DISEASE$, and @PHENOTYPICFEATURE$, along with agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child.	false
+a5263cd04138cacc1007da0d44ddc7075ec15c8b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, @PHENOTYPICFEATURE$, and dysmorphic facial characteristics.	has_symptom
+e26d694cce4b53aa933647b968feab308b659b1b	Goldberg-@DISEASE$ (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+530937628d6f520867187ef639950a99903d6a14	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly @DISEASE$ distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+ad556f63ab7e9d4cf8f567e13f114364af22d71b	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic @DISEASE$ characteristics.	false
+653e67e39d119b252be44b3b5b928153592c51d9	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple @DISEASE$ syndrome distinguished by @PHENOTYPICFEATURE$, microcephaly, and dysmorphic facial characteristics.	false
+df0993357acb191695c7685396e0bf7488e9ce3f	Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic facial characteristics.	false
+564c26e8180d74118cb9294e7c3fc2b64cb5c880	(2.8 Mb) including the @DISEASE$ critical region in a patient with mild MR, @PHENOTYPICFEATURE$ at birth, and dysmorphisms.	has_symptom
+b30be1e118f092e894c261bdfd0963119bb169a9	Magnetic resonance imaging abnormalities of the brain in Goldberg-@DISEASE$ (Hirschsprung disease, @PHENOTYPICFEATURE$, and iris coloboma)	has_symptom
+1d3aa47f2f895361ccae2f918e46bd287771d418	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by intellectual disability, @PHENOTYPICFEATURE$, and axonal neuropathy.	has_symptom
+e0185c36693d43e0141c69689de165347ae77134	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and axonal neuropathy.	false
+d186e319746b1b5f8b54c7277fe448b5bcffb537	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the @DISEASE$ Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	false
+045f20a6413fd06c457759fd2949cdd3cfc5fc68	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-@DISEASE$ (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and axonal neuropathy.	false
+3cdf08c29751c6ef34e34373b8fd2ba125502ec2	Homozygous nonsense mutations in kinesin-binding protein (KBP)/KIAA1279 cause the neurological disorder Goldberg-Shprintzen syndrome (GOSHS), which is characterized by @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+6fe064928493644d506f9264a2f71b9bb4aba870	We report the first case to our knowledge of a 1-week-old female infant with familial inherited achondroplasia associated with bilateral congenital onset @PHENOTYPICFEATURE$, posterior embryotoxon and iris hypoplasia suggestive of ocular Axenfeld-@DISEASE$.	has_symptom
+ece211bd14068b25f63f6133af28b688fe843403	Axenfeld anomaly, @DISEASE$, Rieger syndrome, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial @PHENOTYPICFEATURE$ iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition.	has_symptom
+f483f39739efdb2f02433b3987b9e671508ca791	He also had @DISEASE$, round face, full cheeks, shortness of limbs, mild developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+0c433d502cc4f0d15d64f61a3e20b19e937cb9eb	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @PHENOTYPICFEATURE$, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres.	has_symptom
+8db8631d067b829f05eec17faf979db72d8e89f0	@DISEASE$ (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+98228dde03409f499b487a3e303ca06e59d76c76	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+8bb90e3347616eec8b63c96d2204801bdc52fbaf	Hoyeraal Hreidarsson syndrome (HHS) is a form of @DISEASE$ (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+577713e05d64e0ffc35fc01e1e9f28a32513c1cc	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and extremely short telomeres.	false
+5f26c57736defa4c9d929b8c5f4458ad04d7075e	Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, @DISEASE$, developmental delay, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and extremely short telomeres.	false
+e029c97f4336fd1b0dd01ac6456ac1dd60a9b926	@DISEASE$ (HHS) includes intrauterine growth retardation, @PHENOTYPICFEATURE$, mental retardation, cerebellar malformation, and pancytopenia.	has_symptom
+72aa41df344ffdf94d59b39978f14d54eb47de6e	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+fd0d5d3f2dc45a8f67406a4d49303010f3c7ff7a	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+4b1fcb56f3d08ceb4256207f41cd583b801ee9a0	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+75d43b3fd6a3bc9d2ccfca9bf1f9af27e9c5dff7	Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+b9e5d27740083eeeec94a44d376bedf436fc07ed	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+97583fe9f5bfa0bafa7a1a171723088d8627b3e9	Hoyeraal-Hreidarsson syndrome (HHS) includes @DISEASE$, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+11aecb5b3168355ec14a9b55f69f37790587d465	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	has_symptom
+457c535f129f3bca17b7d2a5055e49ac304fe316	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and severe immunodeficiency in addition to features of DC.	false
+44d2d008650d6ec4fd779d9ec2b9e60e656ee629	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe @DISEASE$ in addition to features of DC.	false
+31f903ade51fb3e4b243bf8a0ae7d01f6b19bab0	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of @DISEASE$ (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+644a11fb5921bae1fde6b0b068842f094b7ca7bb	@DISEASE$ (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+afba7e5563454af6e018a4d3b985e9895d8bfce6	Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by @PHENOTYPICFEATURE$, @DISEASE$, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC.	false
+1dbadc3115467656f41c7fa3e6acafc37248902a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	has_symptom
+5a01287e9b96a67c65055afd2e0d73953403e88c	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @DISEASE$, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+45c5ceda7ae8dbb85f90845220736e503aef1249	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	false
+f80373c11866daf3d3c6d5e2e74c4108fdf3d962	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	false
+6294c29a401d216dbe0918493eaf4e25470f485a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+8b7a88ffcd5380dc26b7a7852bbe11b176c780ed	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+60a8cc49bef17cc7cce0d1867bcf94f14d8dd50c	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with @DISEASE$, @PHENOTYPICFEATURE$, and growth retardation.	false
+bca14ac715112723b019cd65ee9d7e9897828786	@DISEASE$ is a severe multisystem disorder that is characterized by bone-marrow failure, intrauterine growth retardation, @PHENOTYPICFEATURE$, immunodeficiency, and cerebellar atrophy.	has_symptom
+516fb95014c1b3df84a963892820c7649e4b81a9	We report a patient with @DISEASE$ with @PHENOTYPICFEATURE$, exocrine pancreas insufficiency, growth hormone deficiency and severe tubular dysfunction.	has_symptom
+155b3129df7937931fcc574174e9184d5bf349e1	The clinical course of a child with @DISEASE$ was characterized by clinical @PHENOTYPICFEATURE$, startle myoclonus, and paroxysmal activity recorded by EEG.	has_symptom
+370abea3163b5bad12836262649fcde44c617779	@DISEASE$ should be considered in the differential diagnosis of early infantile onset of neurodegeneration with @PHENOTYPICFEATURE$.	has_symptom
+0b6bd8c4da9e6884ad5b36b41fce639d47868581	However, intractable @PHENOTYPICFEATURE$, mainly generalized in nature, and more severe slowing and abundant paroxysmal discharges on EEGs, with commensurate neurologic deterioration, were observed during the earlier course of @DISEASE$, neonatal adrenoleukodystrophy, and connatal Pelizaeus-Merzbacher disease.	has_symptom
+d9678611a220cfaf10d3bfab8cbd85aeb5e99723	Multipoint linkage analysis with use of microsatellite markers from the chromosomal region 6p25-q13 in 29 German families of @DISEASE$ patients provided significant evidence that an epilepsy locus (EJM1) close to the HLA locus confers susceptibility to "idiopathic" @PHENOTYPICFEATURE$ (Zmax = 3.27 at theta max = 0.033 centromeric to the HLA-DQ locus), assuming an autosomal dominant mode of inheritance with 70% penetrance.	has_symptom
+dc99f50c9b48af3212d9cbf934fd88a4404060ea	Eighteen patients had @PHENOTYPICFEATURE$ activity on EEG, but only 6 of these had a history of absence epilepsy or @DISEASE$.	has_symptom
+7115c1757ab881f6b0b633253468832d908a9e69	The possible hint of linkage in families of @DISEASE$ patients emphasizes the need for further studies to determine whether a recessively inherited gene variant within the GABA(A) alpha5, beta3 and gamma3 subunit gene cluster contributes to the pathogenesis of "idiopathic" @PHENOTYPICFEATURE$ and associated EEG abnormalities in a proportion of families.	has_symptom
+f86671d890bea130f5e6ddf050aa87d9adeab2b9	This study confirms a causative role of EJM1 in the pathogenesis of idiopathic @PHENOTYPICFEATURE$ in the majority of German families of @DISEASE$ patients and refines a candidate region of 10.1 cM in the chromosomal region 6p21 between the flanking loci HLA-DQ and D6S1019.	has_symptom
+8796cc31b0d36a424eb709ecb3affd70f97ced14	In 61 families of @DISEASE$ patients, a maximum lod score (Zmax=1.40 at Theta(max)=0.00) was obtained for a broad IGE spectrum ("idiopathic" @PHENOTYPICFEATURE$ or generalized spike and wave discharges in the electroencephalogram) assuming genetic heterogeneity (alpha=0.37;	has_symptom
+071ef6b212287670d4b69dcb5c53518f2442011d	Although the mechanisms underlying fibrosis in @DISEASE$ are largely similar to those observed in other chronic liver diseases, oxidative stress, methionine @PHENOTYPICFEATURE$, hepatocyte apoptosis, and endotoxin lipopolysaccharides that activate Kupffer cells may play unique roles in disease-related fibrogenesis.	has_symptom
+2039caecf416b9001e730762703002811c232a5b	@DISEASE$ (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral @PHENOTYPICFEATURE$, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid.	has_symptom
+3c75f578aa730213a91d1999028532d3c0bdacab	@DISEASE$ (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with @PHENOTYPICFEATURE$, ataxia, chorea and spastic paraparesis.	has_symptom
+a8d68dd2af29916cb7ee9d8fe6aacf24d9958f9b	@DISEASE$ (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, @PHENOTYPICFEATURE$, chorea and spastic paraparesis.	false
+5fbb4d6bcd36706f3d6aa4fd892c757963c22ef6	Costeff syndrome (CS) is a rare autosomal-recessive @DISEASE$, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, @PHENOTYPICFEATURE$, chorea and spastic paraparesis.	false
+086a66d59d1806417840d2c8f3aa1a7db0ab48ca	Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with @DISEASE$, @PHENOTYPICFEATURE$, chorea and spastic paraparesis.	false
+ddf718d0b3b7cdc5a0a8a583449c4c8ad79df2ee	In three children who presented with sudden onset of extrapyramidal tract symptoms, with or without @PHENOTYPICFEATURE$, the clinical presentation was significantly different from that described either for 'unspecified' type or for @DISEASE$.	has_symptom
+98f7eff638241837e7c1bf497970a8c3cc2c7e83	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @PHENOTYPICFEATURE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	has_symptom
+d1c30220396025864b65acc91cb2a02e964b7576	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or @PHENOTYPICFEATURE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	has_symptom
+c3dcee3e2654306fb1a8fbb83329977f59b1cb38	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+6a70bfce31655ffdf84618397514126e84cb0b6e	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+f41579f769cbcb3f9956aed0cfd0a173ec6bbc74	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+4f052a1522f31f49f4edc0605b9154483c177e2f	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @DISEASE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+529e2c046d606faeacbb71d685907ef6913cebb4	MGA type III (@DISEASE$, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+034bd0695a2b84d6553829eb92f9550d27478362	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+6a7a5bed37d006dfb51f7d76bc6344568b4a67e2	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+1e829ff6813e1675115b2302b89817c6fd959fa3	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+a0231ea44857fffcde69a3654129a2ff40fafd6d	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @DISEASE$, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+9070a8c3a24a34a90200e1a970776f6c7dd53fa7	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @DISEASE$, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+ab0be19d548918af9618e58b5b48b727f93d7a7e	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral @DISEASE$, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+9b3fd8c03ea79394b6bfd0ea80531d692ad2f089	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @DISEASE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset @PHENOTYPICFEATURE$, extrapyramidal dysfunction, ataxia, and occasional cognitive deficits.	false
+3aa3e2e795674a2d733127513df29dc29d7aa426	MGA type III (Costeff optic atrophy syndrome, @DISEASE$-3 or optic atrophy plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, @PHENOTYPICFEATURE$, and occasional cognitive deficits.	false
+b2f07860e7c02880cac2912f6eef5b90cef39e4f	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or optic atrophy plus @DISEASE$, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+8d0baa41c503c1c1dc0a1f5fa0ea58a387049030	MGA type III (Costeff optic atrophy syndrome, autosomal recessive optic atrophy-3 or @DISEASE$ plus syndrome, OMIM 258501) is distinguished by early bilateral optic atrophy, later-onset spasticity, extrapyramidal dysfunction, ataxia, and occasional @PHENOTYPICFEATURE$.	false
+6c400329b55f5fb8a0354b2868a5cfc7f6659094	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@PHENOTYPICFEATURE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	has_symptom
+95dd282e0f901998184878c19556a5abdd86a463	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @PHENOTYPICFEATURE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	has_symptom
+c7ffa7fdaed7e2b512e746b56390aff7f6b7a5c4	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+182580c909af36e23a625833506cfce69ba60ed5	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	false
+9346ada57acb9defd07269d114482a517e93042e	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+ba450eef7a9a1ba8a198acc8a16119e5870a4bd2	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+aec4cf46c6b15445322edfa2173c41d805c8007d	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @DISEASE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+1fb7d9928476f1de1a4e01a64c7972a0cb946f80	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+e449138d35b5a7ac40665a5a6ed833f429870348	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-@DISEASE$-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+820e705424f0042b5b0ba5e5540171539f422883	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+0a7c573b63a7721521023bec693b7043f23d0602	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	false
+5d5e9fdcf89da428d6a35c76a4e5081243bff78d	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @DISEASE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+16755e863cc1f9f808c8cfc2e4f20b21f61251e4	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+07d214f064909626bea508f81b8bc6be9fcfb474	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-@DISEASE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+9be99ad7fb29a5885ee0a774d8eb3ed00934d485	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+c820e0aa2b422cfcbd77200cf96434d17230048f	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+c3b4c2369ee5eb1fdffd25d972cb746b30adac2c	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+3712343e39ae0fe6a4466f5ebf9dac87e890d31a	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+7563519c1ac0753458fc08be82e42bcef158661c	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), @DISEASE$ (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+0941c46cd935bc40c529f67a851bfadfd6b5df42	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+ee8c03f4f00151843c3ecc483d669d354aecbcfa	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+243e6b520680198767830c45e15045644ade20cc	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+dfc5153d5afbaf06fc647b78dafc5f73b9a48386	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with @DISEASE$ or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+6dca01c8995e69d9f56b35bf7a28858e422cdcc8	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-@DISEASE$-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+18419ef346cf9b26fa90ee59b0fa07a7d55f99e8	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping @DISEASE$, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+78c07749ca41863a6de6b39456d468d2c55906ab	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or @DISEASE$ type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+055172a8e27ec78733302d0c032c24780cf3c100	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich @PHENOTYPICFEATURE$ (mutations in FXN gene), deafness-dystonia-@DISEASE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+551d761ea154fabc79647a4da99b2186242dc3ca	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) @DISEASE$ (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+8e99763a1e5f5f0ff276a9d4c20cef544cafb565	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-@DISEASE$-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+4752e4fd8325d98d00a1264ee6cbe8f9ff09a019	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-@DISEASE$ (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+02da916b79c2da4e71d8e7b19e1ad53aaf8460d9	We will consider mtDNA based syndromes such as LHON/@DISEASE$/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+16b8f417ec21129a3b3cd41687566da9226e8918	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+871c6137452242cf451c69c79b5b9e5042e2483f	We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (@PHENOTYPICFEATURE$, chorea and spasticity; type III 3MGA).	has_symptom
+410ec5d089c5809b0a29ed15ffd6b2f1e73bdf79	We have screened 13 patients with @PHENOTYPICFEATURE$ and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (optic atrophy, chorea and spasticity; type III 3MGA).	false
+dedc229f60cd937a7e960938260e43e43ab545f6	We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (@DISEASE$, chorea and @PHENOTYPICFEATURE$; type III 3MGA).	false
+1638880fb3835a9258bbf80b953af74fbc110f49	We have screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (optic atrophy, chorea and @PHENOTYPICFEATURE$; type III 3MGA).	false
+cd157f484c424ebca7603be4db3ae417decaacb4	We have screened 13 patients with @PHENOTYPICFEATURE$ and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (@DISEASE$, chorea and spasticity; type III 3MGA).	false
+acb6613699f7c63069a2ad16916eb540f40fdb82	@DISEASE$ is an autosomal recessive condition characterized by infantile @PHENOTYPICFEATURE$, an early onset movement disorder, and 3-methylglutaconic aciduria.	has_symptom
+59a729fdfa4202706d9325f2655ed6c0daac158d	Iraqi-Jewish optic atrophy plus is an autosomal recessive condition characterized by infantile @DISEASE$, an early onset @PHENOTYPICFEATURE$, and 3-methylglutaconic aciduria.	false
+319a48fcf060ee6b3e2ae396e7d6a3caa949bfc4	@DISEASE$ is an autosomal recessive condition characterized by infantile optic atrophy, an early onset @PHENOTYPICFEATURE$, and 3-methylglutaconic aciduria.	false
+e32aef1ff80e998c270bf7a7859f496ad0013e5e	Type III 3-methylglutaconic aciduria (@PHENOTYPICFEATURE$ plus syndrome, or @DISEASE$): identification of the OPA3 gene and its founder mutation in Iraqi Jews.	has_symptom
+80d975bdf633edc5a7776477680fc4987deb4275	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @PHENOTYPICFEATURE$ and choreoathetosis with later onset of ataxia and spasticity.	has_symptom
+c5a8d01435d53d5d2d14918300e9d8f4bd103c2a	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of @PHENOTYPICFEATURE$ and spasticity.	false
+b849bd3501902249dad26cf29a6572dfe7f71deb	Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @DISEASE$ and choreoathetosis with later onset of @PHENOTYPICFEATURE$ and spasticity.	false
+eccbf928a6ff7b033c3213ac3d79f48dbc0ee52d	Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset @DISEASE$ and choreoathetosis with later onset of ataxia and @PHENOTYPICFEATURE$.	false
+e1bdc3a9cfa7d464b11fad4b3e88a936271c8066	@DISEASE$ or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and @PHENOTYPICFEATURE$.	false
+0bf914ea3e050338df0b18f2cea1e7f8aa2fcaac	@DISEASE$ is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral @PHENOTYPICFEATURE$ along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid.	has_symptom
+6121519dd5855e19991ffaff9f618c473fd379ba	@PHENOTYPICFEATURE$ is the most common complication of @DISEASE$.	has_symptom
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+90f679ae2026c825f4f0e7f29bf9dffaf77a6cc1	[@PHENOTYPICFEATURE$ in severe @DISEASE$ syndrome].	has_symptom
+ace65ce903ff7c31f67bb108ea20d075ba1d9440	We report four other observations of @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+6dd885c1907bc82e76528daddb7acf67794637d1	@PHENOTYPICFEATURE$ in hepatitis-related @DISEASE$: electrophysiologic follow-up study.	has_symptom
+9db5084c0a6edb061ab04a41043f7a5dc206f8df	@PHENOTYPICFEATURE$ is frequently reported in @DISEASE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b41ad9b532130aeb37e42d309a095bd4473eb16e	[@PHENOTYPICFEATURE$ with @DISEASE$].	has_symptom
+083e4f7c689d55b4a2407deec31fb920d1dc625f	@PHENOTYPICFEATURE$ in @DISEASE$: clinical and electrophysiologic investigations.	has_symptom
+eb4cfb582deffc93180acb2c35f8b444252aad75	In HCV-related @DISEASE$ (MC) a @PHENOTYPICFEATURE$ (PN) may occur.	has_symptom
+3b00f89e4075545a64936c9e371bfc0833b55569	Early-onset @PHENOTYPICFEATURE$ is a prominent feature of @DISEASE$.	has_symptom
+2a9022790d5a9a998478bc68e8f4e0eace9ccb3b	A peculiar form of @DISEASE$ is described, 5 unrelated young males developed @PHENOTYPICFEATURE$ of the left shoulder and upper arm region, mainly in the distribution of myotomes C5 and C6.	has_symptom
+7ee72eac77b06a4c833762f3f9f91de04d27832b	@DISEASE$ patients frequently have @PHENOTYPICFEATURE$, including SAS and insomnia.	has_symptom
+633336ea0b766842c6b25f1b911abf1e7d98b722	The diagnosis of @DISEASE$ was based on the physical examination: coarse face with low-set ears, low nuchal hairline, @PHENOTYPICFEATURE$ and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail.	has_symptom
+1a723563aae62c03bcdc61c598a4268059596319	@DISEASE$ (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and @PHENOTYPICFEATURE$.	has_symptom
+1f8bc022b16454d3e1bbbe956844890088186fc1	LRP5-linked @DISEASE$ mimicking isolated @PHENOTYPICFEATURE$.	has_symptom
+1237aff8caa03bdaa2f9a60a3cb806ce40d013c6	Castleman's disease is a syndrome consisting of @DISEASE$ with plasma cell infiltration, fever, @PHENOTYPICFEATURE$, hypergammaglobulinemia, and an increase in the plasma level of acute phase proteins.	has_symptom
+0ba22e2c740660da4ea8437687f3602fde366b17	@DISEASE$ with fever, @PHENOTYPICFEATURE$, hypergammaglobulinemia and jaundice.	has_symptom
+0e4403a18b44245a8226d0f5dbe9cfb98649330c	We report a case of an adolescent male who presented with chest pain,@PHENOTYPICFEATURE$, and difficulty in breathing, who was found to have a primary cardiac sarcoma with several characteristic features of a @DISEASE$.	has_symptom
+20ea160e08ea42ae7822dd87f98ee5d48b7acdcb	@DISEASE$ with congenital arachnodactyly, @PHENOTYPICFEATURE$, and severe cardiac valve insufficiency.	has_symptom
+6b68a899e6d8d607502f67cd929bd5b869abf0a4	@DISEASE$, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by @PHENOTYPICFEATURE$, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema.	has_symptom
+6f8d891a59fe849b3c87173dbda1efecf521d034	@DISEASE$ caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, @PHENOTYPICFEATURE$ of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations.	has_symptom
+4dc042ad80ce83c2620e4833d3fe718efa2142ea	We report a case of an infant with @DISEASE$ who presented with @PHENOTYPICFEATURE$ in utero and severe skeletal and cardiovascular manifestations at birth.	has_symptom
+1cde56e25af4b51de1e6ec1bd9d44c4b58e36ea8	Genetic analyses of patients with @DISEASE$, an X-linked @PHENOTYPICFEATURE$ syndrome, have identified several unique mutations in the EIF2S3 gene that encodes the ? subunit of eIF2.	has_symptom
+b0c74ebd12603eed81ba0d99f0b5c821b34467fa	Mutations in EIF2S3, encoding the eIF2? subunit, are associated with severe @PHENOTYPICFEATURE$ and microcephaly, usually as part of @DISEASE$.	has_symptom
+b55d4cca0161ea4d3a672a42d2dd3865d7f4ca45	Mutations in EIF2S3, encoding the eIF2? subunit, are associated with severe @DISEASE$ and @PHENOTYPICFEATURE$, usually as part of MEHMO syndrome.	false
+b299ab2cd6cd2aafce488e223ba35b57067c0a72	Mutations in EIF2S3, encoding the eIF2? subunit, are associated with severe intellectual disability and @PHENOTYPICFEATURE$, usually as part of @DISEASE$.	false
+31cfdd274594918e8e2580a948452e2d862e6901	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	has_symptom
+5e1d8152c1f636fb7eb08337b4750b5c9b1f9b03	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+575a3103942da973329aba69d8243f6536b1d021	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+10f48848803a83d5757746720afd21cc7b8bac6e	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6514a0241b67d6e4689a49385c7113a992a8cb6d	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+f58f2c376cb9e2016af6ddaea30f087eb39208d1	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+7ec962552c2da08e8c156eff750cce2af96e1a24	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+939255be69dcbd33ba430afc2590f641ef1e4dd9	@DISEASE$: confirmatory report of a syndrome with sparse hair, @PHENOTYPICFEATURE$, and short stature and metacarpals.	has_symptom
+41b70272c6a90c581cf245c1aba94e58a5f83444	@DISEASE$: confirmatory report of a syndrome with sparse hair, mental retardation, and @PHENOTYPICFEATURE$ and metacarpals.	false
+0488381d45b937ded26596a43edcf1339ac4aabb	Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, @DISEASE$, and @PHENOTYPICFEATURE$ and metacarpals.	false
+1c413760dc1bb431ead7973ebca383125be26157	@DISEASE$ (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and @PHENOTYPICFEATURE$.	has_symptom
+502a8bc2a7edace56ddf35adec23c1ff4bc1a9d3	Nicolaides-Baraitser syndrome (@DISEASE$) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and intellectual disability.	false
+72463f56e177dd920adab406808e6e8c5d3f3a46	Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and @DISEASE$.	false
+4f1f4e81987189feb97fc6286d650ad4cb520fde	@DISEASE$ (NBS) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and intellectual disability.	false
+dc1f0332b5b97848afabf5d71c84fcec1ff0dc1e	@DISEASE$ (NCBRS) is an @PHENOTYPICFEATURE$ (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex.	has_symptom
+7995b597d1bfbd0cb4c0e7a1fa331bdd4df81fe4	The clinical presentation overlaps with @PHENOTYPICFEATURE$ syndromes associated with other BAF subunits, such as Coffin-Siris and @DISEASE$ and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.	has_symptom
+7d86a20173bed17e92b7b4e70681c49edf0ea1a8	The clinical presentation overlaps with @DISEASE$ syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, @PHENOTYPICFEATURE$, and upturned nose.	false
+67794af3694a0a87bd2d0e96c9be885097e90507	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and @DISEASE$ and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, @PHENOTYPICFEATURE$, and upturned nose.	false
+5287ecc9d70f5946d0cb133f0377fbe5dad6ae09	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and @DISEASE$ and includes prominent @PHENOTYPICFEATURE$, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+c969d4d159631db14a8b07dd6dcaa078d988a105	The clinical presentation overlaps with @DISEASE$ syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent @PHENOTYPICFEATURE$, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+691b63d59e32a01eaab94a70cd2569e7448dc5cd	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and @DISEASE$ and includes prominent speech impairment, hypotonia, feeding difficulties, @PHENOTYPICFEATURE$, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+2e1d4ca49ee9283d21299db582dfd012eaeb3626	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as @DISEASE$, thick eyebrows, @PHENOTYPICFEATURE$, and upturned nose.	false
+d0e7db9cd2bcbda4a81f85f29b5f30e2413fa2cc	The clinical presentation overlaps with @DISEASE$ syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, @PHENOTYPICFEATURE$, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+0ad0a9db0b6d2d2212a699848bab26bdc28487a9	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, @PHENOTYPICFEATURE$, and dysmorphic features such as @DISEASE$, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+b0fab62ffdd737388522ffb3d1e9a9d485fa3f9a	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent @PHENOTYPICFEATURE$, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as @DISEASE$, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+7ffeca22ce961b0a34e693b34d6428f3474e4c10	Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic @PHENOTYPICFEATURE$, Coffin-Siris syndrome and @DISEASE$.	has_symptom
+426c92949098ec181600a1460a028ac44b9edfcf	Coffin-Siris syndrome (CSS) and @DISEASE$ (NCBRS) are rare @PHENOTYPICFEATURE$/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap.	has_symptom
+ef7eb34288ecb8a4ec34e18a31b8e40cef802932	Coffin-Siris and @DISEASE$ are a common well recognizable cause of @PHENOTYPICFEATURE$.	has_symptom
+802fd63aa509d085530c31f82ca76b4c8c49c59f	@DISEASE$ is a rare clinical condition characterized by @PHENOTYPICFEATURE$ with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	has_symptom
+d45f7bd360bcb54988a54517287208db7c8be91e	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+87cbcbb9f50f27735ddfd13dfe1329e5e2e29bc5	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by @DISEASE$ with impairment of expressive language, short stature, @PHENOTYPICFEATURE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+f7c350f07204056b3f1922bafe387470ce7c57da	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by @DISEASE$ with impairment of expressive language, short stature, microcephaly, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+62803d55ed4b9e141ef1f22ff994511fe10a53d1	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, @PHENOTYPICFEATURE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+ad525b60144e56de125de4a6629355b7872e5808	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, @PHENOTYPICFEATURE$, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+d467d0c6b85fac6fe92fee53b7390c6479609511	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by @DISEASE$ with impairment of expressive language, @PHENOTYPICFEATURE$, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+cb3cdf7f8230514cd77ffe23abbe0402dd604f18	Heterozygous mutations in the SMARCA2 ATPase cause @DISEASE$ (NCBRS), an @PHENOTYPICFEATURE$ syndrome associated with delayed speech onset.	has_symptom
+27e44b29e8312ef978da1ed8f47fac1ff19ac426	Heterozygous mutations in the SMARCA2 ATPase cause @DISEASE$ (NCBRS), an intellectual disability syndrome associated with @PHENOTYPICFEATURE$ onset.	false
+b60d82add11b2fbafe7bea082249b80676235a1b	Heterozygous mutations in the SMARCA2 ATPase cause Nicolaides-Baraitser syndrome (NCBRS), an @DISEASE$ syndrome associated with @PHENOTYPICFEATURE$ onset.	false
+9f127b99cf6909a29df3ea3925991d46b9ad6c48	@DISEASE$ causes @PHENOTYPICFEATURE$ and insulin resistance in aromatase knockout mice and humans with rare mutations of the aromatase gene (CYP19).	has_symptom
+12ece90a5439411f11a115c41ea98d1a9ca09700	As complete @DISEASE$ in man is associated with insulin resistance, @PHENOTYPICFEATURE$ and hyperlipidemia, the ArKO mouse may be a useful animal model for examining the role of estrogens in the control of glucose and lipid homeostasis.	has_symptom
+e28f3ec7fa39b7dd4a0cf4715a3f664fe8a2af52	As complete aromatase deficiency in man is associated with insulin resistance, @DISEASE$ and @PHENOTYPICFEATURE$, the ArKO mouse may be a useful animal model for examining the role of estrogens in the control of glucose and lipid homeostasis.	false
+0da0626d3707f4e64cc5a3ebb32bcdc3e078d423	As complete @DISEASE$ in man is associated with insulin resistance, obesity and @PHENOTYPICFEATURE$, the ArKO mouse may be a useful animal model for examining the role of estrogens in the control of glucose and lipid homeostasis.	false
+d479a148f6020466a12e671595668ab9b2d2dad7	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, @PHENOTYPICFEATURE$, facial dysmorphism, small stature, and mental retardation.	has_symptom
+b9fd46db93ed4c15e0ce69aa390b3760016a9f6d	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	false
+d0242feac4606c99255fb148d2bf7906caa61666	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, @DISEASE$, facial dysmorphism, small stature, and @PHENOTYPICFEATURE$.	false
+2c2311128be5d0b570cb1310c8e7f8a4213e2581	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	false
+794305baa0d1add3ed7e0da3d76da9faebfae1d1	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and @PHENOTYPICFEATURE$.	false
+4cb519fe89e7a909a2c60f912dbc5cc9dfb68be5	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, @DISEASE$, @PHENOTYPICFEATURE$, small stature, and mental retardation.	false
+613f55bb4682116e3fb78edf076f559a204a7e09	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, @PHENOTYPICFEATURE$, small stature, and mental retardation.	false
+e9ce3881a0eb441d7463bbb9d74791fc71ec898a	The @DISEASE$ (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, specific facial features, broad thumbs and halluces, and MR of variable degree.	has_symptom
+8187027b2d3acd236f5f3f0604cc8eae0b80e16f	The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined @PHENOTYPICFEATURE$/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, @DISEASE$, specific facial features, broad thumbs and halluces, and MR of variable degree.	false
+ab12a2d48e6a71b79ba6df20a9fa23050749c403	The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined @PHENOTYPICFEATURE$/multiple @DISEASE$ (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree.	false
+bb7383a96720a07316a47f2050411eaac006bd39	The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined @PHENOTYPICFEATURE$/multiple congenital anomalies (MR/MCA) @DISEASE$ characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree.	false
+d69fa02064a9099a8294836b6d5aad8c5e0ffd46	The @DISEASE$ (RTS; OMIM 180849) is a well-defined @PHENOTYPICFEATURE$/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree.	false
+c79aa02a750558a9bcc4a7b133dfd629fb26db51	The @DISEASE$ (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, @PHENOTYPICFEATURE$, specific facial characteristics, broad thumbs and big toes, and mental retardation.	has_symptom
+e3715572d2722241575756a6d8f12a45185c7a01	The Rubinstein-Taybi syndrome (RTS) is defined @DISEASE$ and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and @PHENOTYPICFEATURE$.	false
+6619fe3ae44b96569e89395ee711e0e121d4bd07	The @DISEASE$ (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and @PHENOTYPICFEATURE$.	false
+f7664ac10598efa5766a4445405d4fb8147c9731	The Rubinstein-Taybi syndrome (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, @DISEASE$, specific facial characteristics, broad thumbs and big toes, and @PHENOTYPICFEATURE$.	false
+c32d86d93245edaf1b605fea84d779e72d4623e6	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and hypertelorism.	has_symptom
+7b4ec2781073c395069baf323a80ab942a94eb4f	Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, @DISEASE$, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	false
+42754adedd360422e283d26f3a7d1e58182d8b8f	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	false
+7a3d494725f9f2876cccd4d3c3834c8f4f28eee5	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, microcephaly, delayed milestones, beak nose, and hypertelorism.	false
+752da4b73a878e4221ab91106863ee483a18995c	Rubinstein-Taybi syndrome is a rare @DISEASE$ characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, microcephaly, delayed milestones, beak nose, and hypertelorism.	false
+b43b59d8cd6ac5a5c306911b75a940a21bf15113	Rubinstein-Taybi syndrome is a rare @DISEASE$ characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	false
+4e0207fa41bd6e86595dcbf873af5f5fa0acc89d	Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, @DISEASE$, delayed milestones, beak nose, and hypertelorism.	false
+3ee8f145b15acca5fcaebf7c1ff81e7f8c3d9713	@DISEASE$ (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, @PHENOTYPICFEATURE$, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability.	has_symptom
+d02da827485589dc5dc50a5b40107b648af09ec6	Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, @DISEASE$, dysmorphic craniofacial features, broad thumbs and toes, and @PHENOTYPICFEATURE$.	false
+b69718f5251d3da143349dc455126e9853cbeb37	@DISEASE$ (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and @PHENOTYPICFEATURE$.	false
+6b074dc77f706f54d1fc2f51be212d939248fea9	We describe a father-son Mexican pair with typical features of @DISEASE$ (SRS): ocular hypotelorism, cleft palate, hypospadias (only in the child), and @PHENOTYPICFEATURE$.	has_symptom
+133d57707b44cc716e29f5cba3eb25a96910d9b6	We describe a father-son Mexican pair with typical features of @DISEASE$ (SRS): ocular hypotelorism, @PHENOTYPICFEATURE$, hypospadias (only in the child), and microcephaly.	false
+8b0aa8975e828310b33da3ae4c09d842c55ee91f	We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (SRS): ocular hypotelorism, @PHENOTYPICFEATURE$, hypospadias (only in the child), and @DISEASE$.	false
+9b9bb6323941b8f27f1765f8ca70730e15e9233a	We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (@DISEASE$): ocular hypotelorism, @PHENOTYPICFEATURE$, hypospadias (only in the child), and microcephaly.	false
+c9d10565a0f7fb57360be0071d776e30cd9241bc	He presented facial dysmorphism very similar to that found on most other cases of @DISEASE$ syndrome, dextrocardia, umbilical hernia, hypotonia and @PHENOTYPICFEATURE$.	has_symptom
+0b4ca06ce2016130db2586e7dc8e3ae5815b1d99	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, @PHENOTYPICFEATURE$ and hyperuricemia).	has_symptom
+4cc436f2ff2cbe6e4ff0562a9107582c54bbe0b2	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the @DISEASE$ (e.g., hypertension, dyslipidaemia, NIDDM, @PHENOTYPICFEATURE$, hyperinsulinemia and hyperuricemia).	false
+ef7c747541a77a90e20997f85b5a04af55b4da30	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and @PHENOTYPICFEATURE$).	false
+0cdd604877e7ebee50dd08b52df23e13ed15ec09	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+6811bb00bed07bbdce41d82ede1323daf486b707	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, @PHENOTYPICFEATURE$, @DISEASE$ and hyperuricemia).	false
+d31edaf0988ab190d5e13dc1cfa01f58266bb1a5	Our data suggest that patients with Turner syndrome are extraordinarily prone to abnormalities constituting the @DISEASE$ (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and @PHENOTYPICFEATURE$).	false
+bb1c4fd62d72550df958b7cff6b2611e1cfc0e58	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, @PHENOTYPICFEATURE$, hyperinsulinemia and hyperuricemia).	false
+5b870ce60513501ee5f4d1c4b6c0e6c90374a871	We report a case of carbonic anhydrase II deficiency with @PHENOTYPICFEATURE$, @DISEASE$, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification.	has_symptom
+8cfa6224976297f540f5781476ffdd20b7d6d6b3	We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial @DISEASE$, recurrent renal stones and @PHENOTYPICFEATURE$.	false
+48fc4a28ba2b7d80f71cc6d6e87a69a21ea074c5	We report a case of carbonic anhydrase II deficiency with short stature, @DISEASE$, recurrent bone fractures due to trivial trauma, recurrent renal stones and @PHENOTYPICFEATURE$.	false
+3b575a9cebc9c6389c1dbed04974e3c60f43c8d2	We report a case of carbonic anhydrase II deficiency with @DISEASE$, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and @PHENOTYPICFEATURE$.	false
+fe94e465ece773eba00e4489430008f34a92f52e	We present the case of a woman with refractory idiopathic @DISEASE$ and @PHENOTYPICFEATURE$ with dramatic response to brivaracetam.	has_symptom
+d473e2309a7794903c2939fd70bc9764d1cf8869	To report the clinical and electrographic features of @PHENOTYPICFEATURE$ evolving into generalized tonic-clonic (GTC) activity in six patients with idiopathic @DISEASE$.	has_symptom
+473c0c53fe50f242a3d8196aabab615cd4362e51	The clinical features of @PHENOTYPICFEATURE$ in idiopathic @DISEASE$ have been held to be syndrome-specific.	has_symptom
+c257dfa8d1d160bb3bb9bbd9612f9f290ff75ec4	EEG features of @PHENOTYPICFEATURE$ in idiopathic @DISEASE$: impact of syndrome, age, and state.	has_symptom
+3c2d7b48e3e83ea6c830476b74570cbe1ff676c0	Childhood absence epilepsy is a common @DISEASE$ syndrome characterized by childhood onset of frequent sporadic @PHENOTYPICFEATURE$.	has_symptom
+e6dbe1350371177bd9fb95f326979e004d3cbb28	Childhood absence epilepsy (CAE) is a well-defined @DISEASE$ syndrome clinically characterized by frequent @PHENOTYPICFEATURE$.	has_symptom
+8899143751aadaf0b50c1d7df3eb0122622b731a	Follow-up study of idiopathic @DISEASE$ with associated @PHENOTYPICFEATURE$ and myoclonic epilepsy of infancy.	has_symptom
+00583956faa0257c522a6c81c91410a3555aae40	Follow-up study of idiopathic generalized epilepsy with associated @DISEASE$ and @PHENOTYPICFEATURE$ epilepsy of infancy.	false
+5a50d0f30c68c2bf92a6713813e268861102a44c	Follow-up study of idiopathic @DISEASE$ with associated absence seizure and @PHENOTYPICFEATURE$ epilepsy of infancy.	false
+b90c33a2d4acbd0858c6f2f381791b8fa5ec6ac0	Literature reports suggest LTG also is effective in patients with idiopathic @DISEASE$, including @PHENOTYPICFEATURE$, and in patients with Lennox-Gastaut syndrome.	has_symptom
+b6047f21cf84b67c7372c14aa3a648926072931e	Five patients with idiopathic @DISEASE$ (IGE) were studied at rest and during @PHENOTYPICFEATURE$ with [11C]flumazenil and positron emission tomography (PET).	has_symptom
+bbdff33396a5d13d58f8030fa13382f5b425bbfa	Exceptional response to brivaracetam in a patient with refractory idiopathic @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9b954a3c8159e867e0f63d2ddc6b7ebf390d635a	mouse model of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+2de4242f277226e46595c31135d1b6088457b71a	Pan-ureteric transitional cell carcinoma in a patient of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+f96569e728cf3421adc11b480b4c7309a0b9a462	Autosomal recessive @DISEASE$ with RP1 mutations is associated with @PHENOTYPICFEATURE$.	has_symptom
+24dcf012d81e4c89ee28bcabce5f0b82e6f50fb5	In 29 placentas from mothers with @DISEASE$ we observed @PHENOTYPICFEATURE$, necrosis, fibrinoid deposits and slight lymphoplasmocyte infiltration.	has_symptom
+e880c85ab440a4b8b7d7b198fa0d3b9dd5b2eff6	The presence of alarming symptoms (fever, @PHENOTYPICFEATURE$, rectal bleeding, significant changes in blood chemistry), the presence of palpable abdominal masses, any recent onset of symptoms in patient aged over 50 years, the presence of symptoms at night, and a familial history of @DISEASE$, colorectal cancer and/or inflammatory bowel diseases all warrant investigation.	has_symptom
+2e316952f2897bf89a16de5cef50b1a820a4ef12	@DISEASE$ can present with many symptoms, including typical gastrointestinal symptoms (e.g., diarrhea, steatorrhea, @PHENOTYPICFEATURE$, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g., abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations).	has_symptom
+0f2be3d274ede07c74c0ceed50e9a698249c3e34	Consecutive patients undergoing upper endoscopy/histology for abdominal pain, diarrhea, @PHENOTYPICFEATURE$, weakness or other extraintestinal features compatible with @DISEASE$ (CD) were included.	has_symptom
+b52db1042dbfec4bad2cf2f20c2a8f3ca74e4496	Consecutive patients undergoing upper endoscopy/histology for @PHENOTYPICFEATURE$, diarrhea, @DISEASE$, weakness or other extraintestinal features compatible with celiac disease (CD) were included.	false
+e18b078b97d4ef10dbede71d001afbb865b49f85	Consecutive patients undergoing upper endoscopy/histology for @PHENOTYPICFEATURE$, @DISEASE$, weight loss, weakness or other extraintestinal features compatible with celiac disease (CD) were included.	false
+49cdc506a122a713702d0bbfc78dce8fc2a46a90	Consecutive patients undergoing upper endoscopy/histology for @PHENOTYPICFEATURE$, diarrhea, weight loss, weakness or other extraintestinal features compatible with @DISEASE$ (CD) were included.	false
+66e470e2d3f70d9ba23e024987216b08f4d3af2a	We compared the HRQoL between patients with @PHENOTYPICFEATURE$, @DISEASE$, cholestatic diseases, hemochromatosis and other liver diseases by linear, ordinal and logistic regression, corrected for disease stage and other significant factors.	has_symptom
+2868db364151aa8e8de25b5ca593683d9964bec6	Among the best known are HIV/AIDS, peptic ulcer caused by Helicobacter pylori, @DISEASE$, borreliosis (Lyme disease), @PHENOTYPICFEATURE$ C, gastroenteritis caused by rotavirus, and Ebola haemorrhagic fever.	has_symptom
+7ebf18f711f6eed965d11c8f5d25fabe1fae0c9d	Patients suffering from @DISEASE$ have a homologous mutation of the kindlin-1 gene and develop skin @PHENOTYPICFEATURE$, periodontal disease, and intestinal complications because of deficient adhesion of the basal epithelial cells.	has_symptom
+81ec846084fcfc2391f34f52456cb5b0192bf5b0	Only recently, mutations in this gene have been shown to result in @DISEASE$ (PHS), defined by severe MR, epilepsy, mild growth retardation, @PHENOTYPICFEATURE$, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	has_symptom
+8e0e7fd32135d7e6ce7a4b0b5c6368b54e180b17	Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (PHS), defined by severe MR, epilepsy, mild @PHENOTYPICFEATURE$, @DISEASE$, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+4e3abbaafc01c83c85fc40f501e05d2bf7d6234c	Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (@DISEASE$), defined by severe MR, epilepsy, mild @PHENOTYPICFEATURE$, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+83e7a6d21f80258ea6aea9090f70bf93e1383047	Only recently, mutations in this gene have been shown to result in @DISEASE$ (PHS), defined by severe MR, epilepsy, mild @PHENOTYPICFEATURE$, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+1dd20eb2be5c1d708bfacc7eb4b9a76f1b89de2f	Although the overlapping phenotype of @PHENOTYPICFEATURE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of @DISEASE$ are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical facial dysmorphism, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	has_symptom
+27c39a6770291440a9fdad20d52101a25c847ec7	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped @DISEASE$ lip, and widely spaced teeth.	false
+75f018a83795667163a9742499d10a31f5af40ad	Although the overlapping phenotype of @DISEASE$, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+f2671a6db9ec2462d2eef83ea97ce6d8d5fc0d2d	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and @DISEASE$, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+6aa21e81ba6e666dd629f1f910b4685fdd3a4981	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, @DISEASE$ and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+2905a9198763073731e010c287e0e607fe12f089	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of @DISEASE$ are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+fa17c3a904577ce50762fa35bb4b3dc7f940cc4f	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with @DISEASE$, Rett syndrome and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+485be61fe746db7462655b5a1d6acaa8626819aa	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	has_symptom
+5e25d2f07295a91e6d7aa8235586c57b76e8cff3	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+d0d2626f23991be7e32e98de0abbeb9a81741dc5	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+d9d7d0e1bef56f29382943f39b76e95513c010ff	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @DISEASE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+a6e80df770db82eccebfbd497de83f90a9e89b50	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+973021654aaca7983fd317f6fbcbdbc1f9a0ddee	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of @DISEASE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+78b7f098dc9b45b99eddaf2f0f10b8a0bda2f92d	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+5ac6df0ae3c08e96fbd77e050ce7dc131ec69448	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @DISEASE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+e9a06ad3ec33365c4c351c14ccc3c7f0d8e84f6e	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @DISEASE$ or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+582881ff21befbb860643850af840974f61dba4c	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+23ffbc904376212abca996a2261eb19b70aabb4f	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+acb1c73fbb47e7ecbdba5892ddb4084f6fea57a2	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+cb2bd1a8eb055b8f36505ea59f3364ff8d8ea02a	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+da20fa55710b2d00e5fc18434e6e1bf680234edc	@DISEASE$) associated with @PHENOTYPICFEATURE$-specific symptoms.	has_symptom
+ed145d188a63c053ed20795d89ddfd25d04ec4bc	The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including @PHENOTYPICFEATURE$-like behavior, NONO-mutation-induced intellectual disability, @DISEASE$ and Congenital nystagmus due to FRMD7 mutations.	has_symptom
+ec2d00efb18f8e6d32427266f84a8a6a80eddef0	@DISEASE$ (XLHED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and hypodontia.	has_symptom
+2d47187c110f0f773d0be714a92a13af144fe2c7	@DISEASE$ (XLHED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and hypodontia.	false
+f3d8e66883774889ec7486d5e692f23233c7fe61	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe @PHENOTYPICFEATURE$, @DISEASE$, and hypodontia.	false
+d571329ae245e8c1ea6ce89db6137d556b38238f	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$.	false
+65ed99408850c98f3c6397aa260e1691eff1b545	@DISEASE$ (XLHED), which is characterized by hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	has_symptom
+beb3d6b53913173a73f342012c6294d8079d2d55	@DISEASE$ (XLHED), which is characterized by hypodontia, hypotrichosis, and @PHENOTYPICFEATURE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+0e261102f015148ac85ea017f09384e9455a4d96	X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by hypodontia, @DISEASE$, and @PHENOTYPICFEATURE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+e47d677e2686b2173a16112ccd9c6aaefb50a1df	X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+8fe6983f5ef4719dc2d2b51bb3f786d1a10b1f05	@DISEASE$ (XLHED), which is characterized by @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+afe4bc402d08cdf37a6ff1bb35eb1d75a1cd3cf5	Hypohidrotic ectodermal dysplasia (EDA), or @DISEASE$, is clinically characterized by hypohidrosis, hypoodontia and @PHENOTYPICFEATURE$.	has_symptom
+7b22a9677631051d6bdfeae922d626f52879b032	The @DISEASE$ (HED) is characterized by hypohidrosis, @PHENOTYPICFEATURE$ and hypodontia.	has_symptom
+07eba03fb10ef0ae12e3753250d22ef20dc96681	The @DISEASE$ (HED) is characterized by hypohidrosis, hypotrichosis and @PHENOTYPICFEATURE$.	false
+bd1208baeed79dba13841258531b73882c3abfc2	The X-linked hypohidrotic ectodermal dysplasia (HED) is characterized by @DISEASE$, hypotrichosis and @PHENOTYPICFEATURE$.	false
+a3031de86e3e287cdd51ba39f320b5bb339911d0	The X-linked hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by hypohidrosis, hypotrichosis and @PHENOTYPICFEATURE$.	false
+697c39675cf872286b823f6619b468b8c5fa5128	The X-linked hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+27586280bad3c9a956560e0c4b8830a81ee05431	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by partial or complete absence of sweat glands, @PHENOTYPICFEATURE$, hypodontia, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	has_symptom
+f126df40353ee0435657d2294bd2a899ae8ac6ba	Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, @DISEASE$, @PHENOTYPICFEATURE$, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	false
+abdd067ea91bd8e5f5de70d04e52f3c4a195bc45	@DISEASE$ (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, hypotrichosis, @PHENOTYPICFEATURE$, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	false
+6b5236a4bdc3de379635fb33f5f5470cc5c8a90d	Hypohidrotic ectodermal dysplasia (@DISEASE$) is characterized by partial or complete absence of sweat glands, hypotrichosis, @PHENOTYPICFEATURE$, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair.	false
+65d9fce5e3461b52fc577e760ecf48f11a510863	One of the syndromic forms of @PHENOTYPICFEATURE$ is @DISEASE$ (MCSZ) (OMIM #613402), a rare autosomal recessive neurodevelopmental disorder with a range of phenotypic severity, and known to be caused by mutations in the polynucleotide kinase 3' phosphatase (PNKP) gene.	has_symptom
+2c4349e2597ba5ec5740624480d8c46a03908a10	@DISEASE$ (WS2) is associated with syndromic @PHENOTYPICFEATURE$.	has_symptom
+d6bc1d47b1e4b8a2af94cb4ded87e5b535c55fab	Hypotheses as to the underlying mechanisms are discussed, eg, variable expression of bilateral isolated hereditary @PHENOTYPICFEATURE$, incomplete @DISEASE$ with stria vascularis anomalies and highly variable gene expression, or unilateral cochlear aplasia.	has_symptom
+33fb7ba79dc32f1e099d6c7b9cbd032087c9299a	To differentiate this syndrome against @DISEASE$ which is complicated by @PHENOTYPICFEATURE$ twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful.	has_symptom
+3918ba6074e8ce0b8a37a6a11468bd810908f25e	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, @PHENOTYPICFEATURE$, long palpebral fissures, ptosis, a thin upper lip, a grooved chin, and a left preauricular cyst.	has_symptom
+82d022e5e5c0053ec92bd37f5112573e72a20e0c	We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, @DISEASE$, long palpebral fissures, ptosis, a @PHENOTYPICFEATURE$, a grooved chin, and a left preauricular cyst.	false
+81a608e0491555acb7bb3ccaebb5f53f273952b8	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, @PHENOTYPICFEATURE$, a thin upper lip, a grooved chin, and a left preauricular cyst.	false
+6b5764201938a9e0bad3ef07c6e5922e6911444d	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a @PHENOTYPICFEATURE$, a grooved chin, and a left preauricular cyst.	false
+064915ddc4846c358aba4795aa13043791145115	We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, @DISEASE$, long palpebral fissures, @PHENOTYPICFEATURE$, a thin upper lip, a grooved chin, and a left preauricular cyst.	false
+8c922ce7a643a5c8a1cbec9173e578092ef54018	Here we present a 2 year 5 month old girl with @DISEASE$ showing a prominent forehead, @PHENOTYPICFEATURE$, mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small chin, low-set ears, preauricular fistulas, a short neck, mild pectus excavatum, an umbilical hernia, clinodactyly of the 5th fingers with mild radial deviation of the distal phalanges of the middle fingers, mild pes adductus, an ectopic kidney, and normal psychomotor development.	has_symptom
+1426fdafeab5058d0ce3d777c4f3c5a7ff3c5151	Our second patient had classic @DISEASE$ with @PHENOTYPICFEATURE$ and a giant umbilical hernia.	has_symptom
+5cf4a5e6b2f46840c8c67ff6014f50a3d56bc513	A 34-month-old boy presented with clinical manifestations of @DISEASE$ including prominent forehead with frontal bossing, @PHENOTYPICFEATURE$, exophthalmos due to shallow orbits, a short and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hernia, and shawl scrotum.	has_symptom
+3ead66072fce600c9cb8cbe537848eaabc5cc4b0	@DISEASE$ is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, @PHENOTYPICFEATURE$, enteropathy and keratodermia.	has_symptom
+d47bb1a6f58c610726feda6ee660cb66960e349f	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, @DISEASE$, enteropathy and keratodermia.	false
+4d9de3c120075e7a5c17d276546d6688603105a7	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and @DISEASE$.	false
+9afd65068cc6b3318a7cba2f6e4bffdd0643b16c	@DISEASE$ is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia.	false
+c63287ee54e40c8313d73c6cf8d07fbdd693240f	MEDNIK syndrome is an autosomal recessive @DISEASE$ disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia.	false
+182448bb7d608f2b1ddef6a97de475e44ddbb4fc	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hearing loss, peripheral neuropathy, enteropathy and keratodermia.	false
+9dcba952f3f05059bc5bd06d461b34d2e7463a14	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, @DISEASE$, peripheral neuropathy, enteropathy and keratodermia.	false
+643510754e013a735b312d0af8c39cecadc58dee	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described @DISEASE$ metabolism disorder characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia.	false
+2366f2f1bcec7e253525a9aeaa90a626030f6688	MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper @DISEASE$ characterized by @PHENOTYPICFEATURE$, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and keratodermia.	false
+e1605a10af5415be7712236cf34251b1f1758080	@DISEASE$ (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	has_symptom
+b8f1d5c10d4dd54a7f2fb963f1c5dfef795c5e9d	@DISEASE$ (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+53c9f15379dfb890fb6f718178b782aa212d8a68	@DISEASE$ (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+980293b9b15565b2c0acd784a8230250d9ed154b	MEDNIK syndrome (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis, and @DISEASE$) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+dfea2688b3d436be3232287074a6115ce18086fc	MEDNIK syndrome (mental retardation, enteropathy, @PHENOTYPICFEATURE$, @DISEASE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+6007c0c8355b0cec78f4796149dd6063ee62f5d8	MEDNIK syndrome (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis, and @DISEASE$) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+9641b57694cfbffb4770905655aa5c7028c5a600	MEDNIK syndrome (@PHENOTYPICFEATURE$, enteropathy, deafness, @DISEASE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+79526eb01c0cf73fbfc9356c26d1081ed17c03f7	MEDNIK syndrome (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, @DISEASE$, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+3ae5b0106ded66caf2f6a027ad2419580625d5bc	MEDNIK syndrome (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, @DISEASE$, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+f7eb5aeb9a04f791889f3f191de8076209b3baaa	@DISEASE$, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, @PHENOTYPICFEATURE$, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	has_symptom
+7fbc867320c42fe71573271468c84ae756516fb5	Verheij syndrome, also called @DISEASE$, is a rare condition characterized by ante- and postnatal growth retardation, @PHENOTYPICFEATURE$, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	has_symptom
+5b22198343be2fb4ee98efab341af6c5f6b05c66	Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	false
+2e06e7566ab5c6e7c0a2baebec47e4395daac40c	Verheij syndrome, also called @DISEASE$, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	false
+dc595b51c67467b6ade91e0748c778fe305fdd6c	@DISEASE$, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	false
+be5244898a06c37a4e4d503b77119d0e7c140084	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to @PHENOTYPICFEATURE$, which is usually associated with 8q24.3 deletion (@DISEASE$).	has_symptom
+c5d7bb92ae4bce671fa9b2cfa2ae13e6df638457	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+3ef7479bd1b307c7ed1a3c6da07efffdfb07f216	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to @DISEASE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+b00b20f4b8ceda87e8f120a017628e45599b9ac6	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+24453a6d4f0a0f8ef5db70ff8b227a42cc26756a	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to @DISEASE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+bffdfba843dd5c8e6d9d1eba48f7cb312e4ecca5	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, @PHENOTYPICFEATURE$, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+307bc6ab2bad59eed5c9d53f87bb32bedeae6f75	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, scoliosis, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to @DISEASE$, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+6f66ed1ca3e134574d4d49d129f527347f377cb2	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, @DISEASE$, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+543a19abafd7ba6c9f25996f480739bce24dc106	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+f4a46d1a06f58ddefe613f74a69a87fc03046dff	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline intellectual disability, eye coloboma, short stature, @DISEASE$, @PHENOTYPICFEATURE$ and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (Verheij syndrome).	false
+a3942c0e826dd3f107af139ee608422536534d6b	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, @PHENOTYPICFEATURE$, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	has_symptom
+37be20fc3cf5fb79957266466e3f1a3a6ab6d8c6	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, @DISEASE$, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+d86f0d297e1599322fd989870d6f7a9b87d3cfb1	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, @DISEASE$, lactic acidemia, @PHENOTYPICFEATURE$, hyperuricemia, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+f039483cf02fa738a15164f1ba21b7090063434e	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a @DISEASE$ leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+eb91112eeb64dc062ff331b873259e3055cfc91f	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+4daed351c9d87d309bf34c4c1ee4e0dfb919c6e8	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, @DISEASE$, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+44c897e1305c285e21ba5dc3ae6771cad6b0a9cf	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, hyperuricemia, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+63ee78283ffa0bbbf6eb8a8f60a78fc273e82f1b	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, @DISEASE$, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+937aa39cc534ae8bcfadf37184d75fa8a8e315ed	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a @DISEASE$ leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, hyperuricemia, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+775ddc7e2a69d62146deec1c4f2b4e6df295cf87	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	has_symptom
+a6a49ca97b351acdcfee29eb74343763bc0cb5bc	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+8ecd0a3b26775abd135b1385033e1478234526fe	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+34122a9f406c1260a2b4837dd3368cbbbd668d06	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+35b2b440396926dd0c4cfd91726dbb19da58548c	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+745f7b40cb36ad73dd60b5000dc27cbd1bc68e26	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @DISEASE$, and lactic acidemia.	false
+19a2856aa5c1ec296c055988f80c6fe540f07dc4	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, @DISEASE$, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+26eaca481f92b7716a3a1f6a3cef7980ba623922	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+7ca14caa676cd75da09fcdb267513fcf6fcd8985	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+3ba0aba9724bf3556f8735ee7fef22679b171138	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, @DISEASE$, and lactic acidemia.	false
+4018814a08cb7ad88c1f5e2a5492d2ce996cde13	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+983a856bce09b8c6549af501e0b55460ecf2e0b4	@PHENOTYPICFEATURE$ and gout may develop during the course of glycogen storage diseases (GSD), particularly in @DISEASE$, which involves the liver.	has_symptom
+b6b53b7f6fbb4b02f1f09c0c3738e2a33ad7b7a8	Patients with deficient activity of hepatic glucose-6-phosphatase (@DISEASE$ [GSD-I]) have fasting-induced hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, hyperlipidemia, and a markedly increased capacity for ethanol elimination.	has_symptom
+a704f307da8d3d1cecf0502f3d56a600f12aa145	Patients with deficient activity of hepatic glucose-6-phosphatase (@DISEASE$ [GSD-I]) have fasting-induced hypoglycemia, lactic acidemia, hyperuricemia, @PHENOTYPICFEATURE$, and a markedly increased capacity for ethanol elimination.	false
+ed4b4845eead151229cdb0d567abd51c1f944d71	Patients with deficient activity of hepatic glucose-6-phosphatase (glycogen storage disease type I [GSD-I]) have fasting-induced @DISEASE$, lactic acidemia, hyperuricemia, @PHENOTYPICFEATURE$, and a markedly increased capacity for ethanol elimination.	false
+41ece09003ef47e85c9d4307a4a5a392b75de125	Patients with deficient activity of hepatic glucose-6-phosphatase (glycogen storage disease type I [GSD-I]) have fasting-induced hypoglycemia, lactic acidemia, @DISEASE$, @PHENOTYPICFEATURE$, and a markedly increased capacity for ethanol elimination.	false
+49ceb4fc5a500a8e9c6a4d7b0ef1b66b3a91df96	@DISEASE$ (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, @PHENOTYPICFEATURE$ and hyperlipidemia.	has_symptom
+2b494e35ee27c90302721d6d234a01117c1658ad	Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting @DISEASE$, lactic acidosis, hyperuricemia and @PHENOTYPICFEATURE$.	false
+ad5f89e099911bda9e07f50b0ed1d5b70402a85c	Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+56606a5c97e5e2b89846ce816b809069589e6934	@DISEASE$ (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and @PHENOTYPICFEATURE$.	false
+72bd1c723b7fcb37c8d9575d82dc9f0e2ab4a8cb	Glycogen storage disease type I (@DISEASE$ I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and @PHENOTYPICFEATURE$.	false
+0f9657ce7561b792ff5026cecff25a796cbb9952	Central nervous system @DISEASE$ presenting with raised intracranial pressure and @PHENOTYPICFEATURE$ mimicking neurosarcoidosis with secondary cerebral venous thrombosis.	has_symptom
+4fdc553cc8d2f36252e6a0b6920fb87cb80964c8	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, fever, @PHENOTYPICFEATURE$, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	has_symptom
+4000e4790403babc731b1ef60a078f87dd289c6a	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, weight loss, abdominal pain, skin lesions, @DISEASE$ and pulmonary infiltrates with eosinophilia.	false
+77dfa86bce70241ec3b3b4261ad4137525a76c64	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, weight loss, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+298ad7f7eed47cf94633bc2b3821211f34645fc7	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, @DISEASE$, @PHENOTYPICFEATURE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+936b6ed45a35b4bec2fd21d1aac3ef570aa280ff	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, @DISEASE$, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+e960bc8cd15833103505c8e35d4f7c4d35c9bc03	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, fever, weight loss, @PHENOTYPICFEATURE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+1e953ebba18ac67018c3d877d8aadf01139afbf7	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, weight loss, @PHENOTYPICFEATURE$, skin lesions, @DISEASE$ and pulmonary infiltrates with eosinophilia.	false
+71acef853573017120aaef7e58d5d327c9b2c652	A subcategory of CHARGE patients show overlapping phenotypic characteristics with @DISEASE$ (thymic hypo/aplasia, @PHENOTYPICFEATURE$, T-cell immunodeficiency).	has_symptom
+67a524a652c1dcdb03eb14738de24bab1a0c4069	We report here a case of an 8-year-old boy with partial @DISEASE$ who presented initially with neonatal @PHENOTYPICFEATURE$, but was subsequently normocalcaemic.	has_symptom
+c93d76249bd170da0ac87a2f7eea44c714fbdbf1	[@DISEASE$ with mild episodic @PHENOTYPICFEATURE$].	has_symptom
+c23bf46e62a67ed0234b6723bbd435c0b722f519	Furthermore, in patients with @DISEASE$, seizures can occur due to @PHENOTYPICFEATURE$ or cortical dysgenesis.	has_symptom
+7a310d5108aba0f44ea815fef52ea07b9fa05770	Furthermore, in patients with DGS, @PHENOTYPICFEATURE$ can occur due to @DISEASE$ or cortical dysgenesis.	false
+cf01f37f4af256defef0c6927d9e5cfd606d704f	Furthermore, in patients with @DISEASE$, @PHENOTYPICFEATURE$ can occur due to hypocalcemia or cortical dysgenesis.	false
+a0cf9ed03ac4151dab6ceba5bb950f60fa76ff53	@DISEASE$ commonly presents with a classical triad of conotruncal cardiac anomalies, hypoplastic thymus and @PHENOTYPICFEATURE$.	has_symptom
+2c1961bc800a5929fbfdf610a4eb344764152875	@DISEASE$ commonly presents with a classical triad of conotruncal @PHENOTYPICFEATURE$, hypoplastic thymus and hypocalcaemia.	false
+3f622c87ea6c41cf60bd9770b2ac68b8f1573d74	DGS commonly presents with a classical triad of conotruncal @PHENOTYPICFEATURE$, hypoplastic thymus and @DISEASE$.	false
+6bbbf38fa8781fefb596fbf65c54a5a8a8cd37f7	@DISEASE$ was noted in one patient, who presented with @PHENOTYPICFEATURE$ and T cell dysfunction.	has_symptom
+261d45696d9a713a7c8c7c582cceba34c1bbbbdb	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	has_symptom
+95320dadd4dd4d6d35b6c66fd90318afde0c0b29	Postnatally, the patient presented with @PHENOTYPICFEATURE$, @DISEASE$, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+bb824cb885dcbb36f8a6f951c014491930251e0d	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+efae207c6f683634ed2730aab377aebfa207348f	Postnatally, the patient presented with seizures, @DISEASE$, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+7944d537e9021233e135ecc09ddfe4ab7bf9eac9	Postnatally, the patient presented with seizures, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as @DISEASE$.	false
+4ee4c35c88fd3dd6ecde458061c9bae3e7f60174	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	has_symptom
+04c7953a00fe008d903f15bd04ac7876afbcc311	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and @PHENOTYPICFEATURE$, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	has_symptom
+fd18cfcfefd9f16d30287b0f064f23986decbfdd	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+569fde7b5ba08a3e9681fd2ab096334502d573ab	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+bd9bd0858bcfdb1bea2bea2d8cb2457fd23ba1e0	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+3ba1dbf953a6a66ff1e7e6d5d527d5d40b8da893	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+caedf3362b277794676aa1be5b91d608fe6ec426	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+6e7e202c72d4e4884f21bc570084098eaf36eb92	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+0aaece4287a50d82c87ecd4f3cbd533cebfd68c5	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+d4d3d42909a77bba3480a0fbe037b24c2d4ad67f	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+52ff617a714fffbe375b427dd56d6bbd8e9a0005	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+2d75d79c85be9310eb211799ff15228fa4067f97	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+e761b1e1910e295b733b16d98be5c4842448b182	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+04d7831aa51078890724b4ebdd5e8d39e4ff3d48	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+064c02b4e1c2cb31cbb4810dc714ad395ad87eff	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) @DISEASE$.	false
+c4fb63951dc52d7b0ea60628f33f1ee8ae66e1df	DS) is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, @PHENOTYPICFEATURE$, and @DISEASE$, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+a763da704366a9a9ac22bff6723da4917edecc14	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+07094b902cdc424aed545aa31dfcad90f3cb50af	Complete @DISEASE$ in the absence of neonatal @PHENOTYPICFEATURE$ and velofacial and cardiac defects.	has_symptom
+257308229548b6ce45b8f2ff9364283f69612ab1	Hypoplasia of the thymus @PHENOTYPICFEATURE$, and seizures in early infancy, which are clinical features of @DISEASE$, were also observed.	has_symptom
+b7974bcb4b6c96cf4fb2fecd9898f7661f7bdcd1	Hypoplasia of the thymus @DISEASE$, and @PHENOTYPICFEATURE$ in early infancy, which are clinical features of DGS, were also observed.	false
+e97c284cfb617221590af6f32edfea77876cfa07	Hypoplasia of the thymus hypocalcaemia, and @PHENOTYPICFEATURE$ in early infancy, which are clinical features of @DISEASE$, were also observed.	false
+5621a27381cf3e43a5c246aeac824ef54eaa2397	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @PHENOTYPICFEATURE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	has_symptom
+613cc9d43cfa021fda317cdd2260d36531d1b29b	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+783abdd3e58161c86b205c8246d1940bec4ba440	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+d5beb3756c37e69fe7d786f13fd46644336a32d2	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+c08ba07c8146275361e64cd5135ab11377d93a2d	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @DISEASE$, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+6dd2e7a27f68b1329346a582ab5702c344afe4ce	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+b2a1e1842644f53cff9f65668ef5be85719e7f4d	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+37c547c06eeb59f79444431140f56395639cdfc3	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @DISEASE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+47d08b69d1824a3c6369b6ae2b67b7d444a5efcc	Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of @DISEASE$, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+830a00babf8cab760a642c7caf1a17b136ef4dd8	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+6ac3e9c8d538790fe61006e23d897cc1635e5775	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+c42f0b92da97d58c90b2cbdccac6dd0831d47321	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+c66467d5f160dd8b8381777987d789aec16df65b	Saul-Wilson syndrome (SWS) is a rare congenital skeletal @DISEASE$ characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, @PHENOTYPICFEATURE$, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+8df8c0cc925d54586919058b4f3baeecd3d18aab	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, @PHENOTYPICFEATURE$, and skeletal anomalies, but not the key feature of microphthalmia.	has_symptom
+c3692d9dbb32d678e14e0fbac487c99d5d96fdbf	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, @DISEASE$, and skeletal anomalies, but not the key feature of @PHENOTYPICFEATURE$.	false
+043a51fc9d00d6518f5c32fd1fe7b9b093f834f2	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, microcephaly, and @PHENOTYPICFEATURE$, but not the key feature of microphthalmia.	false
+223e9402fb0fee684e48bd4a258885de9972e8f9	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of @PHENOTYPICFEATURE$.	false
+35371bebe8b2d70a7eda7444cc34719d282932a8	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, @DISEASE$, and @PHENOTYPICFEATURE$, but not the key feature of microphthalmia.	false
+a0edf7b8760ea01c93e03f656dfcf0226fa89e2c	A case of Lenz @DISEASE$ in a seven-month-old male child having features of unilateral anophthalmia, @PHENOTYPICFEATURE$, external ear and finger abnormalities, hydrocele and hypospadias is being reported.	has_symptom
+d4addaf946983c99020bdc22a80aff4b30c34cef	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	has_symptom
+312e821121bb15d7c50b1574deeb5b936c932045	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+034908653f65db9ed5d1e2b672461b08810f2465	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2ba6191635b880d1d18f61a2bf820b032f7a36ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7bfdee852380011d4e563bd7c953f993e7570135	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8ae9ce05e8a4ffb24edcfe6cdfb35a38192ef59c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+9a6a95b167f8d4a7de6296b388ec02de89dd06f4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8e586b2190e86e4b33b6fcb0bf321224ded68a57	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+06429b835a1c3c3a72fe3461b311608226d61c48	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+bdcfaffe0b28dd502200697d77a355b0c7ec1bd8	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+c9890fdd9ed579870e4553c3d372a69273696677	Lenz @DISEASE$ is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, @PHENOTYPICFEATURE$, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies.	has_symptom
+9baee886580ded21c5f582511a97fa67aa473995	Lenz @DISEASE$ is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, @PHENOTYPICFEATURE$, external ear, digital, cardiac, skeletal, and urogenital anomalies.	false
+48c3352c25215652292b5de0852295c2e90a8f57	Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, @DISEASE$, @PHENOTYPICFEATURE$, external ear, digital, cardiac, skeletal, and urogenital anomalies.	false
+426e57669c5c5e820690a89aa13e6d0f7a7ea7a8	Effects of levator retrodisplacement on @PHENOTYPICFEATURE$ in the @DISEASE$ patient.	has_symptom
+6346dd1cb19a9bfa310f21fedbd10de34fd5c00b	The mother also had @DISEASE$ and mild @PHENOTYPICFEATURE$.	has_symptom
+734a319d2936f66a5a6eb7ea223c78e1eb1ad0b9	@PHENOTYPICFEATURE$ associated with the @DISEASE$ deformity.	has_symptom
+c91622ec70e51525a7831536c2b7faa9cb91f483	Prevention of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	has_symptom
+8fd98e2c7499cebd968716ae9fd41ae24161cd6e	@PHENOTYPICFEATURE$ and otopathology in @DISEASE$ patients.	has_symptom
+f1b62a1dd68d10f91005d9abc93174954824b931	Mild @PHENOTYPICFEATURE$ found in some is probably related to @DISEASE$.	has_symptom
+525bcbfa68c06e628a5f2017c52559fc792489fb	@PHENOTYPICFEATURE$ and @DISEASE$ are often present.	has_symptom
+6be1c86c6d9f10d98eeaed485430729feb4f586b	@PHENOTYPICFEATURE$ in infants and young children with @DISEASE$.	has_symptom
+0ba62fb7ceb0d7e00ed6fe303526a25b7ce99a2a	The effect of a levator retrodisplacement procedure upon @PHENOTYPICFEATURE$ in @DISEASE$ patients was evaluated.	has_symptom
+581d1f3153e0d53b884d8b1f74733f224ed7ea5a	2% infants with @DISEASE$ had a @PHENOTYPICFEATURE$ in the first 12 months of life.	has_symptom
+edd6560fe67a50c6bc51c64e7f32d58f27b1c64b	Gaze nystagmus, external ophthalmoparesis, amyotrophy, and @PHENOTYPICFEATURE$ are common in both SCA 1 and @DISEASE$ (MJD).	has_symptom
+c1f5df8970d6cfa5ed4077117536b498c58f7597	Gaze nystagmus, external ophthalmoparesis, amyotrophy, and @PHENOTYPICFEATURE$ are common in both SCA 1 and Machado-Joseph disease (@DISEASE$).	has_symptom
+f9fe50a4cf265657f94ceb3de9634e75396a5bc6	The effect of sulfamethoxazole-trimethoprim therapy in spinocerebellar ataxia type3/Machado-Joseph disease (@DISEASE$) was reported, although the therapy improved @PHENOTYPICFEATURE$ or rigidity, rather than ataxia.	has_symptom
+af1042f5483153d4367246b2959135cf294ddc95	The effect of sulfamethoxazole-trimethoprim therapy in @DISEASE$/Machado-Joseph disease (MJD) was reported, although the therapy improved @PHENOTYPICFEATURE$ or rigidity, rather than ataxia.	has_symptom
+70b720582f7c293987e65f52ab2117721944cbc7	The effect of sulfamethoxazole-trimethoprim therapy in spinocerebellar ataxia type3/@DISEASE$ (MJD) was reported, although the therapy improved @PHENOTYPICFEATURE$ or rigidity, rather than ataxia.	has_symptom
+4ee9e9aeff37fc889814ba1a0f8fe8254e15f43d	The effect of sulfamethoxazole-trimethoprim therapy in @DISEASE$/Machado-Joseph disease (MJD) was reported, although the therapy improved spasticity or rigidity, rather than @PHENOTYPICFEATURE$.	false
+3656bc4b8186bc145de4ecdbf41cde8e526e9c7c	The effect of sulfamethoxazole-trimethoprim therapy in spinocerebellar ataxia type3/@DISEASE$ (MJD) was reported, although the therapy improved spasticity or rigidity, rather than @PHENOTYPICFEATURE$.	false
+f19b8861f217cb92c24b4acaf8bd23676439359c	The effect of sulfamethoxazole-trimethoprim therapy in spinocerebellar ataxia type3/Machado-Joseph disease (@DISEASE$) was reported, although the therapy improved spasticity or rigidity, rather than @PHENOTYPICFEATURE$.	false
+1fb8d080a5bc54a5a04ddf1641d8d1b23bf3ac2a	The effect of sulfamethoxazole-trimethoprim therapy in spinocerebellar ataxia type3/Machado-Joseph disease (MJD) was reported, although the therapy improved @DISEASE$ or rigidity, rather than @PHENOTYPICFEATURE$.	false
+ea0e9b66041f1843bdfc4b022c540bb6d773fa2f	Machado-Joseph disease (@DISEASE$) is a dominantly inherited cerebellar ataxia associated with @PHENOTYPICFEATURE$, ophthalmoplegia, dystonia and peripheral neuropathy.	has_symptom
+2fc48d7d9559c5843ac09aa4378b2c8eda40f8a8	@DISEASE$ (MJD) is a dominantly inherited cerebellar ataxia associated with @PHENOTYPICFEATURE$, ophthalmoplegia, dystonia and peripheral neuropathy.	has_symptom
+8657d5cfa48610c0759850e75e7958c84b67ec0f	Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+daa3e009544a8699c368cb426d13462c9d6208f7	Machado-Joseph disease (@DISEASE$) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and @PHENOTYPICFEATURE$.	false
+6aac7336e4ad62104dfc48bd69defc31928a057d	Machado-Joseph disease (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with @DISEASE$, ophthalmoplegia, dystonia and peripheral neuropathy.	false
+3d98e962ad53dff797b545dfa27d99a4df51a01e	@DISEASE$ (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, ophthalmoplegia, dystonia and peripheral neuropathy.	false
+a892ab52bf5f019455a4ffdd1fa1fa0f223204d5	Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with @DISEASE$, ophthalmoplegia, dystonia and @PHENOTYPICFEATURE$.	false
+7ae2edcef51691cc5ba5279ee6c1593a668f8356	Machado-Joseph disease (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, ophthalmoplegia, @DISEASE$ and peripheral neuropathy.	false
+e667d4eddefc71ec2b71d8bf9674d495a46c7cbf	Machado-Joseph disease (@DISEASE$) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, ophthalmoplegia, dystonia and peripheral neuropathy.	false
+943998b8e3129174362fe8c4d16a6fc4da0ed08a	@DISEASE$ (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and @PHENOTYPICFEATURE$.	false
+5d3b6481eae78f87cc3e90eabc512a01af55f724	Machado-Joseph disease (@DISEASE$) is a dominantly inherited cerebellar ataxia associated with @PHENOTYPICFEATURE$, ophthalmoplegia and dystonia.	has_symptom
+16b0cda1342ecc0f83a28b1527ee9f26df04fd9b	@DISEASE$ (MJD) is a dominantly inherited cerebellar ataxia associated with @PHENOTYPICFEATURE$, ophthalmoplegia and dystonia.	has_symptom
+ea0ee96ff9ad680cbe6dca89410350192e77897f	Machado-Joseph disease (@DISEASE$) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, ophthalmoplegia and dystonia.	false
+0f440daf6456ba489c2bdcda656ce672e2ad3bee	Machado-Joseph disease (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with @DISEASE$, ophthalmoplegia and dystonia.	false
+43579c6e8f0bd6c5628ef59e59bea5cdf2061634	Machado-Joseph disease (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, ophthalmoplegia and @DISEASE$.	false
+e72f8c6dd28f6f3cf12594dc8cdd31b622f83262	Machado-Joseph disease (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, @DISEASE$ and dystonia.	false
+35eba38d77e027753f946f959a046eb27a48286e	@DISEASE$ (MJD) is a dominantly inherited @PHENOTYPICFEATURE$ associated with spasticity, ophthalmoplegia and dystonia.	false
+d123127f4f9cc7a3624fd199578edbb64f5e4f8f	Clinically, dementia and hyporeflexia were more frequent in patients with SCA2, while @PHENOTYPICFEATURE$, hyperreflexia, and Babinski signs were more frequent in patients with SCA3/ @DISEASE$, and those might be helpful in clinical work to primarily distinguish patients with SCA3/MJD and SCA2 from others with different types of SCA.	has_symptom
+8ed5f394fad157456710a1e0ec00e38841ceb37c	Clinically, dementia and hyporeflexia were more frequent in patients with SCA2, while @PHENOTYPICFEATURE$, hyperreflexia, and Babinski signs were more frequent in patients with SCA3/ MJD, and those might be helpful in clinical work to primarily distinguish patients with SCA3/@DISEASE$ and SCA2 from others with different types of SCA.	has_symptom
+2f5298d76aae668f506e6f8f5d0cf508b168673a	DNA analysis for the @DISEASE$ mutation was clearly useful for making an accurate diagnosis in patients without bulging eyes, facial myokymia, dystonia or marked @PHENOTYPICFEATURE$.	has_symptom
+5221eae82515d3ecb739977625d96a1587541ca8	Patients bearing the @DISEASE$ mutation were assigned to three phenotypes: phenotype 1 characterised by early onset and dystonia or pronounced rigidity associated with ataxia and @PHENOTYPICFEATURE$.	has_symptom
+3b7d27b7f968792de9f2063ead3ca57508113fb2	Patients bearing the MJD mutation were assigned to three phenotypes: phenotype 1 characterised by early onset and @DISEASE$ or pronounced rigidity associated with @PHENOTYPICFEATURE$ and spasticity.	false
+7ad1ef8d1e6367bf052f74e628482976166f8d4d	Patients bearing the MJD mutation were assigned to three phenotypes: phenotype 1 characterised by early onset and dystonia or pronounced rigidity associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a01f106b77a1b2f5a0d549a108ccb32a248f15b6	Patients bearing the @DISEASE$ mutation were assigned to three phenotypes: phenotype 1 characterised by early onset and dystonia or pronounced rigidity associated with @PHENOTYPICFEATURE$ and spasticity.	false
+59c89fef1d1675df4634ce2cd3b18c4fa3263da6	The @DISEASE$/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, peripheral neuropathy, dystonia, and @PHENOTYPICFEATURE$, but little evidence of cerebellar disease.	has_symptom
+b565d6e7d604f3e7176857fe14f126534d999456	The MJD/SCA3 mutation was identified in nine families with @DISEASE$ type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of cerebellar disease.	false
+2dbd34377d9c3b54cd0adfee3e26cb0ea2a87272	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and @DISEASE$, but little evidence of cerebellar disease.	false
+2c62accbf61ad46bd844534d4a307dc6287a5fa3	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of @DISEASE$.	false
+1bd090c2b7d57ccdb05d2cd80c078cc14d426b8b	The @DISEASE$/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of cerebellar disease.	false
+4b43422759f7203735d3ebefd438e3ed10ec4b5b	The MJD/SCA3 mutation was identified in nine families with ADCA type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, @DISEASE$, and spasticity, but little evidence of cerebellar disease.	false
+c8e66c207d5d6cdb0bbff4834bbcdbb2fd494d4a	Botulinum toxin type A for treatment of @PHENOTYPICFEATURE$ in @DISEASE$ (Machado-Joseph disease).	has_symptom
+bbe7cc9f8ca0950c0bf79df29337d7d2f1aa07fc	Botulinum toxin type A for treatment of @PHENOTYPICFEATURE$ in spinocerebellar ataxia type 3 (@DISEASE$).	has_symptom
+ff455028c7b2a6b80d364b62518ccf6e6d1fe448	Encouraged by previous publications reporting some improvement in @PHENOTYPICFEATURE$ and gait in two patients with @DISEASE$ treated with sulphamethoxazole and trimethoprim (Bactrim), we carried out a double-blind, placebo controlled cross-over trial in eight patients.	has_symptom
+9418c920d6df3b7cf45fd4fe8e1c86c1a80f3a8c	@DISEASE$ (MJD) is the most frequent dominantly inherited spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+8a14b5ef8914bb4899f759954cf787dc93912049	Machado-Joseph disease (@DISEASE$) is the most frequent dominantly inherited spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+b9aab7d01e8ed7f07ff0b6a8c1aee532ecc25e7a	@DISEASE$ or Machado-Joseph disease is the most common spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+5d322d71a7b1cda0208995473446194e3d257403	Spinocerebellar ataxia type 3 or @DISEASE$ is the most common spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+2f9d295b6a78820588f544f4b2ec30cd5e1dd06c	@DISEASE$ (MJD) is the most common dominant spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+802b2a11d063aa906a01bf0964658b39513db94d	Machado-Joseph disease (@DISEASE$) is the most common dominant spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+5262518c18a586072bda6512fe22e3fe03149fab	Machado-Joseph Disease (@DISEASE$) is the most prevalent autosomal dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+f0af351e9e940b1bcb52f5b78e0d66cee38d8e64	@DISEASE$ (MJD) is the most prevalent autosomal dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+c62d82b33684a5bc8a451d871b58c97c1fa3f2ce	The international cooperative @PHENOTYPICFEATURE$ rating scale in @DISEASE$.	has_symptom
+ffe8bffe0fbb8ff99b5d52a4659745608823b00c	Machado-Joseph disease (MJD), or hereditary @DISEASE$, is the most common dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+614057253feb4db8038058ca540ed02a3f5a285c	Machado-Joseph disease (@DISEASE$), or hereditary spinocerebellar ataxia type 3, is the most common dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+175c02eaf502706b484a6cac3815d83a96dacbbb	@DISEASE$ (MJD), or hereditary spinocerebellar ataxia type 3, is the most common dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+9b8d0ff0c83aef1b98a053de115e309e32618398	SCA3 or @DISEASE$ (MJD) is the most prevalent @PHENOTYPICFEATURE$ worldwide.	has_symptom
+16a0007e6022a1ba48820595bd76f4e5c8ffc590	SCA3 or Machado-Joseph disease (@DISEASE$) is the most prevalent @PHENOTYPICFEATURE$ worldwide.	has_symptom
+d28b3295b1001e195cc909901751fb9bb2e10873	@DISEASE$ (MJD) is the most common spinocerebellar @PHENOTYPICFEATURE$ worldwide.	has_symptom
+5489559ed275716856d8a510a55652a4b2185505	Machado-Joseph disease (@DISEASE$) is the most common spinocerebellar @PHENOTYPICFEATURE$ worldwide.	has_symptom
+a366ea456bf530bcf2279e36a59fa7ecd917618c	Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/@DISEASE$) is the most common type of spinocerebellar @PHENOTYPICFEATURE$ in China.	has_symptom
+c693c449f456505b365c128a683e69d7a33cd79f	Spinocerebellar ataxia type 3/@DISEASE$ (SCA3/MJD) is the most common type of spinocerebellar @PHENOTYPICFEATURE$ in China.	has_symptom
+e425f97f783fea99a4b501f025dc32916d94414c	@DISEASE$/Machado-Joseph disease (SCA3/MJD) is the most common type of spinocerebellar @PHENOTYPICFEATURE$ in China.	has_symptom
+74f0315b9ee009e7ddeb4444bbc715c55791f3e8	Neural correlates of @PHENOTYPICFEATURE$ severity in @DISEASE$/Machado-Joseph disease.	has_symptom
+8afcde697646876fb47adf64fd7c8524d3eb6b28	Neural correlates of @PHENOTYPICFEATURE$ severity in spinocerebellar ataxia type 3/@DISEASE$.	has_symptom
+7247b2d1b397756922dc58f29c2b460ba69016de	Adult mice with a Leydig cell specific deletion of MAPK kinase (MEK) 1 and 2 (Mek1(f)(/)(f);Mek2(-/-);Cre(+)) mice display @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+720ee429fa2d196689ea499057f93e2548619966	@DISEASE$ determining familial @PHENOTYPICFEATURE$.	has_symptom
+b0a897ab1da46720782ca73b096bcfa6a79d54fd	In an uncommon form of male pseudohermaphroditism associated with @PHENOTYPICFEATURE$ and @DISEASE$, inactivating mutations of the LH receptor are described.	has_symptom
+8df9031b0e3fbaccff39e2ea7ad9bb3cbf64e5ff	Homozygous or compound heterozygous inactivating mutations of LHCGR are associated with a phenotypic spectrum from female or ambiguous external genitalia due to @DISEASE$ to micropenis, @PHENOTYPICFEATURE$ and delayed puberty in genetic males.	has_symptom
+961b293e4ee302ed67364a5b95704f6f008f007c	Mutations of the human LHR receptor lead to the development of three clinical conditions, namely, @DISEASE$, @PHENOTYPICFEATURE$ and primary amenorrhea, and familial male-limited precocious puberty(FMPP).	has_symptom
+aa21bbdb36af26735004a5707379d4d45e748788	Homozygous or compound heterozygous inactivating mutations of the LH receptor were associated with a rare autosomal recessive form of male pseudohermaphroditism (@DISEASE$), micropenis and @PHENOTYPICFEATURE$ in genetic males.	has_symptom
+fd0594a1c4fc5496d29fd8c637832b7b6fbde7ce	Dental management of @DISEASE$ associated with oral cleft and @PHENOTYPICFEATURE$.	has_symptom
+79182fbce4196b413b6acea1f4a15eacf5597370	Dental management of @DISEASE$ associated with @PHENOTYPICFEATURE$ and hypodontia.	false
+4cfcb5190a4f28b20f127c7fde89b3009405a528	Dental management of Rapp-Hodgkin syndrome associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+52846ffdfa5bbc369f219418073d434fb4f74971	@DISEASE$ (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with @PHENOTYPICFEATURE$.	has_symptom
+fa88b2cd7b5241291b7a4f08e6e820a0b210f2ab	A diagnosis of drug-induced @DISEASE$ (on the basis of mononeuritis multiplex, @PHENOTYPICFEATURE$ and markedly increased anti-myeloperoxidase (MPO) ANCA) and statin-induced distal myopathy was made.	has_symptom
+c8803e17b565a161fbfde5b70b763d7dd7d10e94	OPA1 R445H mutation in @DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+9227eb22058ac19be366a618d0d746bd9344e7ff	These included @PHENOTYPICFEATURE$, @DISEASE$, mild facial dysmorphism, orodental anomalies and developmental delay.	has_symptom
+7c731aefc8abc4091bb5e9bb2df10603a7584242	These included @DISEASE$, optic atrophy, mild @PHENOTYPICFEATURE$, orodental anomalies and developmental delay.	false
+e773eeae31a3770c02a318050e38952f17355307	These included sensorineural deafness, @DISEASE$, mild @PHENOTYPICFEATURE$, orodental anomalies and developmental delay.	false
+d51fa95756589cef8e027fae090d2e033f5511c6	The clinical phenotype comprised cerebellar ataxia, areflexia, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+e5142458ee7c38cf7c7725e88a9e8c46bde16db9	The clinical phenotype comprised @PHENOTYPICFEATURE$, areflexia, optic atrophy, and @DISEASE$.	false
+d7705ab9896fc648bd58dcb2621de56d4abdfd84	The clinical phenotype comprised @PHENOTYPICFEATURE$, areflexia, @DISEASE$, and sensorineural hearing loss.	false
+e892f7c67f2f3fd7bb88661fce90f372ebeeb854	Coexistence of diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$: case report.	has_symptom
+e2eff4e68a276377e6679479992b7d737e4939b9	It includes diabetes mellitus and insipidis, @PHENOTYPICFEATURE$, @DISEASE$, but not bladder dysfunction.	has_symptom
+252c269a75dfad8d787fb711e47b4e2da8f2e4c2	Many of the clinical and neuroradiological features are reversible except @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c2de7ce8a94266e06cba5191f99be360c97f1bf8	Progressive @DISEASE$ and @PHENOTYPICFEATURE$ due to chronic glue sniffing.	has_symptom
+6c237e83ed0db6351f81b8d1b15d121029274443	@DISEASE$ and @PHENOTYPICFEATURE$ in a family caused by an R445H OPA1 mutation.	has_symptom
+0042e7981e023b8e0b272ce16b6d368c88e2bd05	One patient had neurological deficit at follow-up, while none had @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+a429d3e0a46457cd3ef3aa2a99839fe4f6d5fcdf	In addition to HMSN and @DISEASE$ a 20-year-old man suffered from @PHENOTYPICFEATURE$.	has_symptom
+5a8840177abe43ed72f50504287110c09ffd3caa	It is becoming increasingly apparent that a variety of other cardiovascular conditions, including early-onset @PHENOTYPICFEATURE$, ischemic heart disease, and stroke, are the major factors reducing the life span of those with @DISEASE$.	has_symptom
+e32a19df8a9ef994cd97c724107bca3876df3575	@DISEASE$ is a very rare @PHENOTYPICFEATURE$ due to bi-allelic variants in PTH1R.	has_symptom
+020cef6b2ce5209c7320701ccc1afc54384d5a82	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+0a94c9709ded67e6542df52f1b75840e12e8e15a	@DISEASE$ is often manifested during the neonatal period with vomiting, @PHENOTYPICFEATURE$, lethargy, and hyperammonemic coma when catabolism is prolonged.	has_symptom
+709f8e3235c057d96a95e118bbdf5f3b0d160bc0	Propionic acidemia is often manifested during the neonatal period with vomiting, @DISEASE$, lethargy, and hyperammonemic @PHENOTYPICFEATURE$ when catabolism is prolonged.	false
+b435619994cab8ed7c54946593ae9e3f4799169b	Propionic acidemia is often manifested during the neonatal period with @PHENOTYPICFEATURE$, @DISEASE$, lethargy, and hyperammonemic coma when catabolism is prolonged.	false
+08bcc5e0e6cbe3f7bd0b1e5f2aefdcf60703fc64	@DISEASE$ is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic @PHENOTYPICFEATURE$ when catabolism is prolonged.	false
+054342a50aacadfee0405a4bb54607ad6851d2ee	@DISEASE$ is often manifested during the neonatal period with @PHENOTYPICFEATURE$, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged.	false
+1f404f345021d2f1e6023181c23ff96466e7efe6	A 15-month-old girl with @DISEASE$ presented a @PHENOTYPICFEATURE$ and muscular hypotonia, who had been treated with diets low in leucine, valine, isoleucine, threonine and methionine.	has_symptom
+bdb70fbc66e0c3bb9284010842f7f89c3f4e4ec7	A 15-month-old girl with @DISEASE$ presented a failure to thrive and @PHENOTYPICFEATURE$, who had been treated with diets low in leucine, valine, isoleucine, threonine and methionine.	false
+eefc9933339469b1ff0c098a0f6e119e13308d90	A 15-month-old girl with propionic acidemia presented a @DISEASE$ and @PHENOTYPICFEATURE$, who had been treated with diets low in leucine, valine, isoleucine, threonine and methionine.	false
+eb9e7a958ec2b1e4602e776e68b6d53fe07e7629	The disease often causes B symptoms, skeletal @PHENOTYPICFEATURE$ and also may cause diabetes insipidus and @DISEASE$.	has_symptom
+90c8758865f2be7e98f6acddf93602a0c0674f25	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features.	has_symptom
+669a8a66e4f6d3f1c56cd6794b40eec7fc4ee4b5	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, microcephaly, @PHENOTYPICFEATURE$, sensorineural hearing loss with cochlear abnormalities, and @DISEASE$ dysmorphic features.	false
+e8299316514557bb757653dafa80705da8ef1a8e	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, microcephaly, @PHENOTYPICFEATURE$, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features.	false
+dc844b28e1df7bf574fa3fc378d3216132607a2b	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features.	false
+b2d80de5ccda8bd5f40d25a1389cdb501d393746	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$ with cochlear abnormalities, and facial dysmorphic features.	false
+cc76cd6431bd904ca35b9ef20c9b6a5db4c65bf5	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, microcephaly, intellectual disability, @PHENOTYPICFEATURE$ with cochlear abnormalities, and @DISEASE$ dysmorphic features.	false
+1f623a4490be3f63fb0cab203ee1e15b22a2a66a	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, microcephaly, intellectual disability, @PHENOTYPICFEATURE$ with cochlear abnormalities, and facial dysmorphic features.	false
+e1419e7127dac281601de919484b82d68f005d82	The individual with @DISEASE$ displayed @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and abnormal skin pigmentation.	has_symptom
+6866557be5a7870ed9b2fa985ea13d4a13e43e03	The individual with @DISEASE$ displayed microcephaly, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+e17982c0c883fd733c0b7b1619f1bbcf72256b5d	The individual with WABS displayed @DISEASE$, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+fbd01be7c09e5f922d6ddf71873b56f56775bfc5	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, @DISEASE$ (WABS), in a single patient with severe @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and abnormal skin pigmentation.	has_symptom
+ca19a44244af441d69a08f8cb256386c40883bbb	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (@DISEASE$), in a single patient with severe @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and abnormal skin pigmentation.	has_symptom
+242628a146b7ffa77475d2d5d76da30bee87fc7e	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (WABS), in a single patient with severe @DISEASE$, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+18d49eeb31322f0a0f3f9a20193e912f6db9d713	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (@DISEASE$), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+39d984d2eb822130640055b4fea108966c50f14d	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, @DISEASE$ (WABS), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+383d2960fd9f2c7a9877024a5fc312e73c14d85d	@DISEASE$ (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, @PHENOTYPICFEATURE$, developmental delay, cochlear anomalies, and sensorineural hearing loss.	has_symptom
+4283e1148a59fb10bab99df9a48102a57a6d3671	Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, @DISEASE$, developmental delay, cochlear anomalies, and @PHENOTYPICFEATURE$.	false
+fd0fbf78d73e2f1a71af550b1e77aaa440b32ffb	@DISEASE$ (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and @PHENOTYPICFEATURE$.	false
+520be196b7088481a4834fe5311265e8b898a213	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	has_symptom
+792963ba78ddce990d8f40e5a716411ef5da43db	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	has_symptom
+f34ea43067215c20e6966bc554988cdce405bad2	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+961566956e9b3b79f95883261f76002823613e28	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+8742e5dd8651b929ceefbd3002babc8727f93130	Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	false
+e334b6282c9d4555f4ce018161f14b462a5d5a5f	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	false
+593f99464cf7d381387a28b30d2d5e0bc4169a45	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+23b7cba8a962823fd36df9b9f2fb034cd3bf9aca	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+aad79e05e61ad7197364b8de99df2021c377a86e	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	false
+407c077b9eb43bd674e20a935a7d4ec90aa8cbb1	Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @DISEASE$, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+9dcf4c9d39997f762ef8877dbf867e49af376bc9	Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+ffe9669dd90b3163844da8307d30152c1f60bc5f	Typical clinical features observed in @DISEASE$ patients include growth retardation, facial dysmorphia, @PHENOTYPICFEATURE$, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	has_symptom
+da6c117021309543d55d00dd6bf9da74f4235ea5	Typical clinical features observed in @DISEASE$ patients include @PHENOTYPICFEATURE$, facial dysmorphia, microcephaly, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+ed19ba74b3fb2ebdc2563e8505776dc71cdc4e5c	Typical clinical features observed in @DISEASE$ patients include growth retardation, @PHENOTYPICFEATURE$, microcephaly, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+5fafb2fb46852d687070fe2f03cd00d2aaf5aeef	Typical clinical features observed in WABS patients include growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+85eb41d8e064f67f93b9aa641539725d05837c66	Typical clinical features observed in WABS patients include @PHENOTYPICFEATURE$, facial dysmorphia, microcephaly, @DISEASE$ due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+79acf05299495a2b6b030dbc2663cdb00b3c4a5a	Typical clinical features observed in WABS patients include growth retardation, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$ due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+59669a7936259e3759f3f1de9699c3dcf28c5f45	Typical clinical features observed in WABS patients include @PHENOTYPICFEATURE$, facial dysmorphia, @DISEASE$, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+b1e408cbb356afa89fb80cd103b1398a3f9fed43	Neurological complications of haemolytic uraemic syndrome (@DISEASE$) include altered states of consciousness, @PHENOTYPICFEATURE$, ischaemic stroke and encephalopathy.	has_symptom
+e943921324ce3f776de277096ba9e99f0c9f15c7	Neurological complications of @DISEASE$ (HUS) include altered states of consciousness, @PHENOTYPICFEATURE$, ischaemic stroke and encephalopathy.	has_symptom
+2a6ba5a2495902c5c5c6534e97504f902e8e2a59	Neurological complications of haemolytic uraemic syndrome (HUS) include altered states of consciousness, @DISEASE$, ischaemic stroke and @PHENOTYPICFEATURE$.	false
+27ac76500e87a3e3cb083d7e01f4f31667cd0bf9	Neurological complications of @DISEASE$ (HUS) include altered states of consciousness, seizures, ischaemic stroke and @PHENOTYPICFEATURE$.	false
+fbdb27aa7d1e654da59e14b942c7605030b79238	Neurological complications of haemolytic uraemic syndrome (@DISEASE$) include altered states of consciousness, seizures, ischaemic stroke and @PHENOTYPICFEATURE$.	false
+d39df6fbb6896f5f774e6d729c921dcf3eb7197f	Our patient presented with hemolytic uremic syndrome (@DISEASE$) and renal failure, and later developed @PHENOTYPICFEATURE$.	has_symptom
+bae5bb99229fe722ada48aa46012a4cd4e31d028	Our patient presented with @DISEASE$ (HUS) and renal failure, and later developed @PHENOTYPICFEATURE$.	has_symptom
+66022f5d34657711c732c894f985cc9c99a4764f	Our patient presented with hemolytic uremic syndrome (@DISEASE$) and @PHENOTYPICFEATURE$, and later developed seizures.	false
+667e8a92849a1146f1c3c2b5d705b8578d822886	Our patient presented with hemolytic uremic syndrome (HUS) and @PHENOTYPICFEATURE$, and later developed @DISEASE$.	false
+7faa005d8bbc394ea417344d8d8abf7d8a6db2de	Our patient presented with @DISEASE$ (HUS) and @PHENOTYPICFEATURE$, and later developed seizures.	false
+500dd0f249f3b6067e8f301544f19d59d27fd36a	Late onset @PHENOTYPICFEATURE$, hemiparesis and blindness in @DISEASE$.	has_symptom
+68e6675add07752aba869369f2e18bacaede74e5	Late onset seizures, hemiparesis and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+093c5f929953f7b6c28b4c0e9eaec9547e239cf8	Late onset @DISEASE$, hemiparesis and @PHENOTYPICFEATURE$ in hemolytic uremic syndrome.	false
+867f76f2a7900315a4465f1dee6550c3cec0cf23	Central nervous system (CNS) complications of @DISEASE$ (HUS) commonly consist of alterations in mental status, @PHENOTYPICFEATURE$, and rarely hemiparesis.	has_symptom
+1f2858fe5e9cfd5c3b4f2e1d9bcc55a1269058ea	Central nervous system (CNS) complications of hemolytic-uremic syndrome (@DISEASE$) commonly consist of alterations in mental status, @PHENOTYPICFEATURE$, and rarely hemiparesis.	has_symptom
+503feb6095b9a79d5966208567f5689bef4b2ec8	Complications from @DISEASE$ can include intussusception, chronic renal failure, and @PHENOTYPICFEATURE$ in severe cases.	has_symptom
+4c7d5898543709ba2af3b48df9b6e44fcf9e5a66	The EEG results of 11 children, ages 1-15 years, who presented with @DISEASE$ complicated by @PHENOTYPICFEATURE$ 3-10 days after the prodrome were studied.	has_symptom
+55353a7145456419340dbb881cf3de80ef498048	Out of 3842 patients, 104 experienced a complicated course comprising @DISEASE$ and neurological complications, including cognitive impairment, aphasia, @PHENOTYPICFEATURE$ and coma.	has_symptom
+c374563c3b920a62a8137a4e319104ebeeb4ed8b	Out of 3842 patients, 104 experienced a complicated course comprising @DISEASE$ and neurological complications, including @PHENOTYPICFEATURE$, aphasia, seizures and coma.	false
+e8fd7ea8dfe0b74e6d6eeecc3e583d926b029e1a	Out of 3842 patients, 104 experienced a complicated course comprising hemolytic uremic syndrome and neurological complications, including @PHENOTYPICFEATURE$, aphasia, @DISEASE$ and coma.	false
+c8a6eca58befc56e2f140db4d1b835dd0584d22d	EEG and @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+acb38bee36e4ba28be14c22728e725e57fc732a8	Major central nervous system (CNS) complications such as @PHENOTYPICFEATURE$ and coma, occur in about 30% of children with hemolytic uremic syndrome (@DISEASE$).	has_symptom
+1c4804affb2fc7b330cebcf236bad72ae7ca9dd6	Major central nervous system (CNS) complications such as @PHENOTYPICFEATURE$ and coma, occur in about 30% of children with @DISEASE$ (HUS).	has_symptom
+b7a0a17604d7db6fa90b4cb249f8b9f6241ac1d6	Neurologic complications of @DISEASE$, including @PHENOTYPICFEATURE$, usually occur early during the acute phase of the illness.	has_symptom
+d97dad8d3bd1f4d9bf44863919becf3e75dd9780	[Is there an ideal surgical time for @DISEASE$ patients with @PHENOTYPICFEATURE$?].	has_symptom
+1fbf531792a3e25566a8a4ce23370f2c4b0084d7	[Increased @PHENOTYPICFEATURE$ rate and characteristics of Nd:YAG laser capsulotomy in @DISEASE$].	has_symptom
+6ecec787fc5778fb462b07da1ac8528cbc8e3ffa	[The results of @PHENOTYPICFEATURE$ surgery in @DISEASE$].	has_symptom
+4f1f801d22b1553a577fc71d4c0a6779d7a1810a	Outcome of @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$.	has_symptom
+5b263af8183fc5913680fc3935d04991ad7f3b52	Prevalence of posterior subcapsular @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+64cfde9ebf3710c97872de3acfa30de2e3760f26	Ultrastructure of human @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+38971af9c8ee01cc37de47b8c71d5acc72b602fb	[Indications and prognosis of @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$].	has_symptom
+9c5c0ff44da2b3531f2bb4726e6eaf7bc5fa8311	Thus, @DISEASE$ @PHENOTYPICFEATURE$ may have diverse ultrastructural alterations.	has_symptom
+dae4a3cd4fe3694c9452733c67496b385147370e	Factors affecting visual acuity after @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$.	has_symptom
+40e8f576de7dd2d3d30b663f0ece423b03bbc566	[Complicated @PHENOTYPICFEATURE$ in various forms of @DISEASE$.	has_symptom
+c21191064f1cf3378c1e493410c2e5864875e8bd	@DISEASE$ is characterized by distinctive facial features, multiple anomalies and @PHENOTYPICFEATURE$.	has_symptom
+279251bac01f24dd59fd356811ae195eb2a308da	@DISEASE$: a new malformation syndrome of postnatal dwarfism, @PHENOTYPICFEATURE$, unusual face, and protruding ears.	has_symptom
+4031d704a39ed77c90de286271d7855fed5a0dd3	@DISEASE$ (KS) is a rare, congenital @PHENOTYPICFEATURE$ syndrome.	has_symptom
+7af37517b16eae9c3b7aa1b81fb0cee8138e32bb	@DISEASE$ is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome.	has_symptom
+1452855b8e3a679dc5e7124edcb4a5904182ccf5	@DISEASE$ is a @PHENOTYPICFEATURE$-malformation syndrome affecting multiple organ systems.	has_symptom
+415b4d9e7f855bd1f4509666137b328b39e7799f	@DISEASE$ (KS) is an entity of multiple congenital malformations with @PHENOTYPICFEATURE$ with undetermined etiology.	has_symptom
+342fb4540c2d3c3bde3c308e0a4cc8094350971e	@DISEASE$ is a genetic entity with multiple anomalies associated with @PHENOTYPICFEATURE$.	has_symptom
+04b64f8fb0c8773c5dae01dbc028a66000468a8e	@DISEASE$ (KS) is a rare condition with multiple congenital anomalies and @PHENOTYPICFEATURE$.	has_symptom
+891c0d26bb1d28f693b75c62f5134ec20eab6351	@DISEASE$ (KS) is a rare, clinically recognisable, congenital @PHENOTYPICFEATURE$ syndrome.	has_symptom
+7af37517b16eae9c3b7aa1b81fb0cee8138e32bb	@DISEASE$ is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome.	has_symptom
+49c41b4500689a0daef63641a89ed504e6b41983	Nevertheless, the side effects of long-term steroid administration, particularly diabetes, hypercholesterolemia, @DISEASE$ hypertension, infections, and bone diseases, including @PHENOTYPICFEATURE$ in children, have focused the interest on the feasibility of steroid-free immunosuppression.	has_symptom
+13f18f22a456ecaab54ac1f6a3e568c98067d624	We have studied 55 samples of amniotic fluid taken by amniocentesis from 32 women, most of whom had @DISEASE$ hypertension, with or without intra-uterine @PHENOTYPICFEATURE$; with or without uncertainty as to their dates.	has_symptom
+5d93bbdd444ced0b45d62e821557cf46dea6e6d2	We conclude that arterial occlusion is common after diagnostic femoral artery catheterization in children less than 5 years of age, but that excellent collateral supply prevents leg @PHENOTYPICFEATURE$ and/or symptomatic @DISEASE$ insufficiency in most children.(ABSTRACT	has_symptom
+1a03d3dc36a00c7439a5a542dd5aa3eea832bc5b	@DISEASE$ (AIH) is an unresolved, predominantly periportal hepatitis that is usually displays @PHENOTYPICFEATURE$, and tissue autoantibodies, and this malady is responsive to immunosuppressive therapy.	has_symptom
+347a9456dc540e30460792bdc839fb93e7fcae4e	Echoing liver function indices, cholestatic hepatitis with sinusoidal obstruction-type endothelial injury was seen histomorphologically. @DISEASE$ serology such as anti-F-actin, anti-liver/kidney microsome, and @PHENOTYPICFEATURE$ was negative in all patients.	has_symptom
+5c3aecd35b8d2a315de49833ad5758d2956a8d16	Seven patients with this overlap syndrome (diagnosis based on the presence of serum hepatitis C antibody by RIBA and serum hepatitis C RNA by polymerase chain reaction, and serum @PHENOTYPICFEATURE$, elevated ANA or ASMA titers, or histological findings consistent with @DISEASE$) were treated with prednisone with or without azathioprine or cyclosporine, and followed for a median duration of 44.5 months.	has_symptom
+530620ce9538ba56ec757e9e60931c423c69ba9e	Similar to idiopathic @DISEASE$, circulating autoantibodies and a @PHENOTYPICFEATURE$ are often present in the serum of such individuals.	has_symptom
+04c6de0d36aaa4011f6da38e45eba7105ea660b8	None of the 29 had features favoring a diagnosis of de novo @DISEASE$, but 4 had isolated @PHENOTYPICFEATURE$, and 4 had non-organ-specific autoantibodies without hyperimmunoglobulin G. Sixteen of 29 patients also had features of chronic rejection, such as foam cell arteriopathy, loss of bile ducts, or pericentral fibrosis.	has_symptom
+81238a56983226738f807c005bb8ca62a968edb6	Like idiopathic @DISEASE$, circulating autoantibodies and a @PHENOTYPICFEATURE$ are frequently present in sera from patients with AI-DILI.	has_symptom
+0c97652b8abb019373eb264aa2085f85b34effbd	The lacrimo-auriculo-dento-digital or @DISEASE$ is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; @PHENOTYPICFEATURE$; and digital malformations.	has_symptom
+f1b370b2fffb348f863529882053f730bb637dfa	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (@DISEASE$ - Vertebral anomalies, @PHENOTYPICFEATURE$, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).	has_symptom
+77c17a93f22409ef3d8e10a3640fc155d9081aaa	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (@DISEASE$ - @PHENOTYPICFEATURE$, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).	false
+5a41fafc5e97dff74f4d5303caca446087fbf4f4	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - @PHENOTYPICFEATURE$, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & @DISEASE$ anomalies and Limb defects).	false
+db6b94789675bd5c803672aa6d7c041d85ae0803	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - @PHENOTYPICFEATURE$, @DISEASE$, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).	false
+7d269f6ab915486025bbad45dc6157f1cc045cb4	Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - @PHENOTYPICFEATURE$, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or @DISEASE$, Renal & Radial anomalies and Limb defects).	false
+a16275d781b59cad833bab636dfde1da2e3508c7	Our study highlights the phenotypic heterogeneity of SPG15 in which @PHENOTYPICFEATURE$ or cognitive deterioration, but not all other signs of @DISEASE$, are associated with HSP and significantly reduces the SPG15 locus.	has_symptom
+3f36f6c5fbea26fb897c4741d389ec68fff6430b	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @PHENOTYPICFEATURE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the @DISEASE$.	has_symptom
+bcebee2842a00c6411a4689702cbebb41936f218	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+31bdd43f1f73e31bd6153d34ee2e47e59601e8da	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+6f4f90a02f29fe183d7f44cd5abb07ab50b66dd4	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the @DISEASE$.	false
+c81dda400e6f68e42bf0edd9d3f9d37b837f8046	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @DISEASE$, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+80bb4ea85f63949ff36a246368ab46a7d7d47f06	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, @DISEASE$, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+7ac73912851478d9d5c80579b6c1de79337d8175	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+d4e92a501aed04d1238d448fae523b86bcea4b2c	@DISEASE$ (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+7f855b2104ca74b7d5522c0d2b05cf5040325610	Hereditary spastic paraplegia (@DISEASE$) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome.	false
+cde19d25d5057f512a9509b64ff26f1c053348f9	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic @DISEASE$, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild @PHENOTYPICFEATURE$ that has been associated with the Kjellin syndrome.	false
+0fa3125d45d89a82138afb8636d70ceab44dedcc	Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the @DISEASE$.	false
+022236c0183a1b683b12b28702e6f9d525e48967	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed @PHENOTYPICFEATURE$, urinary tract anomalies, limb defects, vertebral anomalies and anal atresia, which belong to the main features of VACTERL-association.	has_symptom
+90008c524b901af751c50b731b8574d7f6d58ae7	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, @PHENOTYPICFEATURE$ and anal atresia, which belong to the main features of VACTERL-association.	false
+b03d6e91db1bbbb45a4e5b3a1601fc9292a39606	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, vertebral anomalies and @PHENOTYPICFEATURE$, which belong to the main features of VACTERL-association.	false
+6e6b5035995ea6c2b44f190bdce6b21c75730b12	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of Prune-Belly-syndrome. Furthermore the patient showed @DISEASE$, urinary tract anomalies, limb defects, vertebral anomalies and @PHENOTYPICFEATURE$, which belong to the main features of VACTERL-association.	false
+82213eb468c95fd9bcec94773682342873bd389c	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of Prune-Belly-syndrome. Furthermore the patient showed @DISEASE$, urinary tract anomalies, limb defects, @PHENOTYPICFEATURE$ and anal atresia, which belong to the main features of VACTERL-association.	false
+8ec5fc64f3a6741f61b65c154c59d23b42d981db	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	has_symptom
+48cc7d5893f2d557f87291348d1a1571f70bf71c	@DISEASE$, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+8a948af7861ad924e383d5e408f5cc07d298ab33	@DISEASE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+409ca7b2932b7c0005a247430dc73beb21f114c2	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+a778ff6005b1438474600479190466e3d26e44f0	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+44314191d9968cf01b5bf519bbe3bf61820a8492	@DISEASE$, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+852ff813bf105bc0fae9afb84228a1887aae32fc	@DISEASE$, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+0b507f7f2e6318ac98c5a2d71d03e75c4e84c2c4	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+59b6bd926717da282d6688f55575233cba435216	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+2f0c1b0c4bb238616b5bdf6792542b4fb5a23b6a	@DISEASE$, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+abc1a6557ff44c3429b70ebbd6a85c958c9958a2	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+1eaea5d1ecc00b4cd3555d5102fc750bfc6936c5	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed @DISEASE$-dysarthria.	has_symptom
+b4931f0dc437d37382b048cfb5784f7646da85ac	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed CAS-dysarthria.	has_symptom
+b5b07e1ff68da5ba7941b8846fc046c4be77f8ae	In the present study of 33 children with @DISEASE$, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	false
+62a69caba08f3f9f2ad644949e5ce17e8094e098	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	false
+cf2e746616e5ba90cf6c49462cd1a9f3c465b809	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed @DISEASE$-dysarthria.	false
+9a3d26bbadfe82efb170b502b41f7d6b606f6521	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ @DISEASE$, and 3% with mixed CAS-dysarthria.	false
+09e7cdd524dfea45b910b75d0552b18326e949ec	The etiologies of @DISEASE$ were congestive heart failure (CHF; 35%), multifactorial (usually involving CHF; 26%), arrest/@PHENOTYPICFEATURE$ (13%), contrast (11%), volume depletion (6%), sepsis (6%) and obstruction (3%).	has_symptom
+f93bdafa9bf31a3f93be8ab665eb8935c3ff8433	The etiologies of @DISEASE$ were @PHENOTYPICFEATURE$ (CHF; 35%), multifactorial (usually involving CHF; 26%), arrest/arrhythmia (13%), contrast (11%), volume depletion (6%), sepsis (6%) and obstruction (3%).	false
+a62386b2d64dace27e30a2fc76c8f2e77ddd35f9	The etiologies of ARF were @PHENOTYPICFEATURE$ (CHF; 35%), multifactorial (usually involving CHF; 26%), arrest/@DISEASE$ (13%), contrast (11%), volume depletion (6%), sepsis (6%) and obstruction (3%).	false
+dcce6cfe26a2b3b5a63e2a6cc4f0a4201db45f78	Heart murmur accounts for 45.6% of DE requests, followed by extracardiac malformations and presence of dysmorphic features (7.2%), cyanosis (6.8%), suspicion of @DISEASE$ (5.7%), @PHENOTYPICFEATURE$ (3.8%), bronchopneumopathies and respiratory distress (3.5%), chest pain and palpitations (3.3%).	has_symptom
+8aee8cf5d66f3bcf016a700a5fb9f647ce8635ee	Other diagnoses included hypertension, @PHENOTYPICFEATURE$, myocarditis/cardiomyopathy, pulmonary hypertension, @DISEASE$/endocarditis, and heart transplant.	has_symptom
+08f173764dccd266a8ab91611d74050748a893fc	Other diagnoses included hypertension, arrhythmia, myocarditis/cardiomyopathy, pulmonary @PHENOTYPICFEATURE$, @DISEASE$/endocarditis, and heart transplant.	false
+0b8e8c4c1319ec47136287b0b60b56c8c3f029c4	Other diagnoses included hypertension, @DISEASE$, myocarditis/cardiomyopathy, pulmonary @PHENOTYPICFEATURE$, rheumatic fever/endocarditis, and heart transplant.	false
+0bf769f0a4b74f82faf2d26380c07ffdcf8864fd	Other diagnoses included hypertension, arrhythmia, @DISEASE$/cardiomyopathy, pulmonary @PHENOTYPICFEATURE$, rheumatic fever/endocarditis, and heart transplant.	false
+96c022c02559f37420860d995f6fe7cfb738d43e	Other diagnoses included hypertension, arrhythmia, myocarditis/@DISEASE$, pulmonary @PHENOTYPICFEATURE$, rheumatic fever/endocarditis, and heart transplant.	false
+33128d9032b6ffb1712e055facacca2ab3db66b8	Patients with @DISEASE$ and adaptation cryoglobulinemia syndrome were predisposed to chronicity of primary rheumatic carditis, development of compound and combined valvular defects, @PHENOTYPICFEATURE$ and hemodynamic disturbances.	has_symptom
+94d5c24076ea9a63038dd35e55bb43fcef94dd6e	Sinus @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+9097ef363f84a1034f01a762a19e04caf2ee3877	A 54-yr-old woman, who underwent resection of the @DISEASE$ in the left frontal region and received a dura mater graft 23 yr ago presented with dysesthesia followed by psychiatric symptoms and @PHENOTYPICFEATURE$.	has_symptom
+7bc14e6b20fa588e1d1f6d108b5de3b92074e064	Particular attention is placed in one of the cases, that of a young woman with a short clinical history of episodic symptoms of intracranial hypertension, dizziness and @PHENOTYPICFEATURE$, with a concomitant frontal @DISEASE$ and in the general context of a multiple hamartoma syndrome (Cowden disease).	has_symptom
+46e1cf5f4c989131f473eaf708cbf6cec9d401b8	A laterally placed posterior fossa @DISEASE$ gave rise to contralateral @PHENOTYPICFEATURE$ and palsies of the fifth, ninth, and tenth cranial nerves.	has_symptom
+aa32416895dcaa986f51a5f2ed868d9c75b66a09	A 15-year-old boy presented with a @DISEASE$ that caused a left hearing loss, dysarthria, and @PHENOTYPICFEATURE$.	has_symptom
+5852b895ff2165a98efd69fbd6aa4756d4cda324	The patient in Case 2 was a 53-year-old woman who underwent elective resection of a right temporal @DISEASE$ and who experienced postoperative drowsiness, dysphagia, and mild right-arm @PHENOTYPICFEATURE$.	has_symptom
+7fe47b37e8d0d3a45725b7aff9608c6cea88a87f	The patient in Case 2 was a 53-year-old woman who underwent elective resection of a right temporal meningioma and who experienced postoperative @PHENOTYPICFEATURE$, dysphagia, and mild right-arm @DISEASE$.	false
+5439699dd5f1c72d16d90e7b4cff39d1741c6755	The patient in Case 2 was a 53-year-old woman who underwent elective resection of a right temporal @DISEASE$ and who experienced postoperative @PHENOTYPICFEATURE$, dysphagia, and mild right-arm ataxia.	false
+350b9d8e8109d990568c88ddc445d344a107f38d	Five patients had acute or subacute strokelike symptoms involving the basal ganglia or middle cerebral arteries; one had a parietal convexity mass mimicking @DISEASE$ with headache and @PHENOTYPICFEATURE$.	has_symptom
+0eeeb6483b3a8bc096f53bf3c32008e51bf7e599	The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), @DISEASE$ (2), febrile convulsion (2), @PHENOTYPICFEATURE$ (3), epilepsy (9) and unknown causes (6).	has_symptom
+9483e033bd51000977c3a7d87a40aa2571ac4a4b	Medullary cystic kidney disease/@DISEASE$ (MCKD/FJHN) are autosomal dominant renal disorders characterized by tubulo-interstitial fibrosis, @PHENOTYPICFEATURE$ and medullary cysts.	has_symptom
+ac207d0f04088d2a8dc2daf898e08e574ed17a97	Another is uromodulin (UMOD), which is the key protein for the pathogenesis of @DISEASE$ that is characterized by early onset of @PHENOTYPICFEATURE$ and renal failure.	has_symptom
+bcdd57d42397435dea4d422bb9c13c58a0a91cdc	Another is uromodulin (UMOD), which is the key protein for the pathogenesis of @DISEASE$ that is characterized by early onset of hyperuricemia and @PHENOTYPICFEATURE$.	false
+117d647b436242d6852bc7909d0913d909bf17e3	Another is uromodulin (UMOD), which is the key protein for the pathogenesis of familial juvenile hyperuricemic nephropathy that is characterized by early onset of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5a71d05f25b51938d2242b07b7448958eaeee056	The disease complex medullary cystic disease/@DISEASE$ (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent @PHENOTYPICFEATURE$, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure.	has_symptom
+b55f8c08951586da5b08fd0e47c90c0d49692739	The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent @DISEASE$, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and @PHENOTYPICFEATURE$.	false
+5abe4dd62d2738d22ad9ca059e988fc04daa8f83	The disease complex medullary cystic disease/@DISEASE$ (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and @PHENOTYPICFEATURE$.	false
+a9f0c0d97c0f125af757ba80a04b5700c1bf6fde	Autosomal-dominant juvenile @PHENOTYPICFEATURE$, gouty arthritis, medullary cysts, and progressive renal insufficiency are features associated with @DISEASE$ (FJHN), medullary cystic kidney disease type 1 (MCKD1) and type 2 (MCKD2).	has_symptom
+66911973139cba6d7ef6e75853afacb9fa8c045f	@DISEASE$ (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of @PHENOTYPICFEATURE$, gouty arthritis, and progressive renal failure at an early age.	has_symptom
+93c3da21f3cbb46625c9ffb4dc28debe073aee25	Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant @DISEASE$ characterized by juvenile onset of hyperuricemia, gouty arthritis, and progressive @PHENOTYPICFEATURE$ at an early age.	false
+3d5a9f62b87f1ad21c2d608d917a9b614209ff66	Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of @DISEASE$, gouty arthritis, and progressive @PHENOTYPICFEATURE$ at an early age.	false
+ea8f45127af535bec0f428d4b819b75cd1215b49	Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, @DISEASE$, and progressive @PHENOTYPICFEATURE$ at an early age.	false
+ae502e969557e45b308ea9aa42ce03d0cea3f8bc	@DISEASE$ (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis, and progressive @PHENOTYPICFEATURE$ at an early age.	false
+00ca3fc54f1c48cfd48ee2895e51d0285a615c06	Autosomal dominant @PHENOTYPICFEATURE$, gout, renal cysts, and progressive renal insufficiency are hallmarks of a disease complex comprising @DISEASE$ and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	has_symptom
+4e3aeb9f9658791292447cd21ca55a8f4456e389	Autosomal dominant @DISEASE$, gout, @PHENOTYPICFEATURE$, and progressive renal insufficiency are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	false
+cc6f514fdddf2a2fade898f562a101c1669debf5	Autosomal dominant hyperuricemia, gout, @PHENOTYPICFEATURE$, and progressive renal insufficiency are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy and @DISEASE$ diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	false
+255d7da1b1fcf0c669df43023e6cc127cd7c1088	Autosomal dominant hyperuricemia, gout, @PHENOTYPICFEATURE$, and progressive @DISEASE$ are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	false
+e047fad02e0d6cf7c8fb75f59faf3fde4da0fca6	Autosomal dominant hyperuricemia, gout, @PHENOTYPICFEATURE$, and progressive renal insufficiency are hallmarks of a disease complex comprising @DISEASE$ and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	false
+d1010107c11326c7f2df8008fb08928e67f0f1d5	@DISEASE$ (FJHN) is a dominantly inherited condition characterized by young-onset @PHENOTYPICFEATURE$, gout, and renal disease.	has_symptom
+20e41631ef5192342826d9dc95a5c62ee18af5db	@DISEASE$ (FJHN), characterized by early-onset @PHENOTYPICFEATURE$, reduced fractional excretion of uric acid, and chronic renal failure is caused due to mutation in uromodulin (UMOD) gene.	has_symptom
+894d512c2f69222bd89d9e37a4008b7326430712	Sensory Jacksonian @PHENOTYPICFEATURE$ triggered by a frontally-located @DISEASE$.	has_symptom
+e6b95e24e5fd70cee468b82edc24e503013ec3ed	There are relevant risk factors for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+10848d0305c7797db45a2cd86a1e8842d773dc0a	@PHENOTYPICFEATURE$ are common before and after @DISEASE$ surgery.	has_symptom
+f23ef09f30677d617355b0a838d26b0e2e817720	@PHENOTYPICFEATURE$ in supratentorial @DISEASE$: a systematic review and meta-analysis.	has_symptom
+cca9b880de98002e741f82b3d01e5ac95916de02	For the search terms "@DISEASE$ and seizure", "meningioma and epilepsy", and "Simpson and @PHENOTYPICFEATURE$" Medline query identified 865 articles.	has_symptom
+54e2be46d074a0ee74cdcb9c6259ff1dcd19a64f	For the search terms "@DISEASE$ and @PHENOTYPICFEATURE$", "meningioma and epilepsy", and "Simpson and seizure" Medline query identified 865 articles.	has_symptom
+622b07f21d709759b76446424e491947fb4234e1	For the search terms "meningioma and seizure", "@DISEASE$ and epilepsy", and "Simpson and @PHENOTYPICFEATURE$" Medline query identified 865 articles.	has_symptom
+0c886779c98aca31740a8188cc85e444f01f5a93	For the search terms "meningioma and @PHENOTYPICFEATURE$", "@DISEASE$ and epilepsy", and "Simpson and seizure" Medline query identified 865 articles.	has_symptom
+ef46bf6fc9b6abad4827b2d0cc3c3bbeebad94a2	There is a significant incidence of postoperative @PHENOTYPICFEATURE$ in @DISEASE$ patients with a history of preoperative seizures.	has_symptom
+15f886b8b607da13129d102b59dbca7a47b879ac	There is a significant incidence of postoperative seizures in @DISEASE$ patients with a history of preoperative @PHENOTYPICFEATURE$.	has_symptom
+da60ab6a29228c8b646c4ff0ebf13d7f33c5baf2	Preoperative tumor-associated epilepsy in patients with supratentorial meningioma: factors influencing @PHENOTYPICFEATURE$ outcome after @DISEASE$ surgery.	has_symptom
+2e4f9695f26e9375b8115d637dff93d2910f8a01	Preoperative tumor-associated epilepsy in patients with supratentorial @DISEASE$: factors influencing @PHENOTYPICFEATURE$ outcome after meningioma surgery.	has_symptom
+67139662c9c61e8c88349122b5e25cf24353236d	Preoperative @PHENOTYPICFEATURE$-associated epilepsy in patients with supratentorial meningioma: factors influencing @DISEASE$ outcome after meningioma surgery.	false
+ae9f622bc836ee67e567291244355372b3850a89	Preoperative @PHENOTYPICFEATURE$-associated epilepsy in patients with supratentorial @DISEASE$: factors influencing seizure outcome after meningioma surgery.	false
+818a6882b48b26934c2bdf50cd9e90cc5aec0988	Preoperative @PHENOTYPICFEATURE$-associated epilepsy in patients with supratentorial meningioma: factors influencing seizure outcome after @DISEASE$ surgery.	false
+eb8ca055c27d546fc3853632648703971b51e647	[Olfactory @PHENOTYPICFEATURE$ and parasellar @DISEASE$].	has_symptom
+076ae2c5a283081f8530e4920320bc3cdee3f48b	Prospective study of postoperative @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+fa5bf224a2adb775689dde648311ea7c221f3e0c	52% of @DISEASE$ patients had a @PHENOTYPICFEATURE$.	has_symptom
+42c08a6e87a470549ccb08bb43d5924818b33098	The present study aimed to investigate the effects of assistive listening device (@DISEASE$) use on communication efficiency in groups of elderly adults with and without @PHENOTYPICFEATURE$ during a structured language sampling task.	has_symptom
+3e2cb0721ced096fc6ab54999883ae21bbec04ab	Significant auditory dysfunctions were found in only two patients; a retrocochlear type auditory disorder in one child with @DISEASE$, and a profound @PHENOTYPICFEATURE$ in a child with neonatal ALD.	has_symptom
+b622006e7acd8666f1257c64a2865edc387160ec	Significant auditory dysfunctions were found in only two patients; a retrocochlear type auditory disorder in one child with ALD, and a profound @PHENOTYPICFEATURE$ in a child with neonatal @DISEASE$.	has_symptom
+c194cd79ebc7b05a77ade18d5e0b016a175100cd	The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with @DISEASE$. Recently, loss-of-function mutations in BCAP31 were reported in association with severe developmental delay, @PHENOTYPICFEATURE$ and dystonia.	has_symptom
+2bf7f5dea813b7408adf19c898655dee86a6ae24	@DISEASE$ confers risk for hypoketotic @PHENOTYPICFEATURE$, hepatic encephalopathy, seizures, and sudden unexpected death in infancy (SUDI).	has_symptom
+90d78af88264d1337ef38660e885b7fc41b254ca	CPT1A deficiency confers risk for hypoketotic @DISEASE$, hepatic encephalopathy, @PHENOTYPICFEATURE$, and sudden unexpected death in infancy (SUDI).	false
+d7581771988273fcefe9f91f0191a4c7f3c89c23	CPT1A deficiency confers risk for hypoketotic hypoglycaemia, @DISEASE$, @PHENOTYPICFEATURE$, and sudden unexpected death in infancy (SUDI).	false
+daec2f83be04fb63d7826b1dba9fb6842a6893b9	@DISEASE$ confers risk for hypoketotic hypoglycaemia, hepatic encephalopathy, @PHENOTYPICFEATURE$, and sudden unexpected death in infancy (SUDI).	false
+46f161684e12b5b3a55c1bc7f2e46b020d9d94a3	Reported patients with @DISEASE$ lack activity of the hepatic isoform and present before 30 months of age with hypoketotic @PHENOTYPICFEATURE$, hepatomegaly with raised transaminases, seizures and coma.	has_symptom
+c34559e87de1df78655a7511eb824a1facaa2317	Reported patients with @DISEASE$ lack activity of the hepatic isoform and present before 30 months of age with hypoketotic hypoglycaemia, hepatomegaly with raised transaminases, @PHENOTYPICFEATURE$ and coma.	false
+9b6991fe77d4243391bbb80c0d5363c24fe22397	Reported patients with CPT I deficiency lack activity of the hepatic isoform and present before 30 months of age with hypoketotic @DISEASE$, hepatomegaly with raised transaminases, @PHENOTYPICFEATURE$ and coma.	false
+b463ead6d9d80879b22dceb2950672c91591b087	@DISEASE$, familial @PHENOTYPICFEATURE$, and demyelinating neuropathy: Rare association may be due to sodium potassium cotransporter genes.	has_symptom
+409fc460bc5a11060fb75f854b9eb041ff42b2a4	We report a 13-year-old male with @DISEASE$ who presented with altered mental status following a fall and scalp laceration and unremarkable brain CT, followed during hospitalization by somnolence and @PHENOTYPICFEATURE$.	has_symptom
+98d79d8af8ca16ba1a127d03261015ba70b3b7d9	Associated systemic abnormalities were @PHENOTYPICFEATURE$, congenital rubella, cleft lip and palate, facial hemangioma, inguinal hernia, clinodactyly, @DISEASE$, Goltz-Gorlin syndrome and Hallermann-Streiff syndrome.	has_symptom
+d69ec5d8a0f6e8d00a1c0a70c25465594cd36129	@DISEASE$ presenting with @PHENOTYPICFEATURE$: a case report.	has_symptom
+d5d2f67d18bf368be5be42f525b097cfb4be956c	@DISEASE$ of the lung--a rare differential diagnosis of @PHENOTYPICFEATURE$.	has_symptom
+a073e9670cc93a7bed6959ad89d5fa663d92e38e	[@DISEASE$--rare @PHENOTYPICFEATURE$].	has_symptom
+488f1c399a4715905c436e01c995bc47f1595a4c	Of the 12 healthy donors, 3 cases of pneumonia, one case of angiosarcoma of the left flank, one case of @DISEASE$ of the mediastinum, and 8 cases of breast cancer, non reacted with the @PHENOTYPICFEATURE$ extract, and only one of 7 lung tuberculosis patients showed positive adherence stimulation.	has_symptom
+a9114e0148bc0bc0a781956cd33ebf2cd7f2dfe3	We report two cases of @DISEASE$ of the lung with a completely different clinical outcome: one patient with an asymptomatic, peripheral lung tumor, 18 months disease-free after radical surgical therapy and another one with an advanced @PHENOTYPICFEATURE$, that infiltrated the pulmonary artery and caused distant pulmonary metastases.	has_symptom
+ba276205830a6dd10e1cc82b3120b8a0491c4c55	We report two cases of @DISEASE$ of the lung with a completely different clinical outcome: one patient with an asymptomatic, peripheral @PHENOTYPICFEATURE$, 18 months disease-free after radical surgical therapy and another one with an advanced lung tumor, that infiltrated the pulmonary artery and caused distant pulmonary metastases.	has_symptom
+156450391348eb7cf9bbd73bdeed82a6b5bc43f9	We report an uncommon case of primitive @PHENOTYPICFEATURE$ exhibiting @DISEASE$-like features, with an aggressive, fatal clinical course.	has_symptom
+c9d3d6c75cd8975b187a61f8dae6fc23144ffb94	The second sibling, aged 3 years, had steroid-resistant nephrotic syndrome with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0b507f7f2e6318ac98c5a2d71d03e75c4e84c2c4	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	has_symptom
+409ca7b2932b7c0005a247430dc73beb21f114c2	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+d6658eff95c3e57b32626ea50b7f42688bfb854b	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @DISEASE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+a778ff6005b1438474600479190466e3d26e44f0	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+57aa2aec404ab2dc5acbebb7e7e30603c33064ff	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @DISEASE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+59b6bd926717da282d6688f55575233cba435216	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+fda1d275c18fafd3d0ca86b624e0200b89d1a042	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @DISEASE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+278a18c7a94d75933dc5d08c1e1d09af8864fefa	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @DISEASE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+40c7e60e8c152a0604793813ef2227d846422336	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @DISEASE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+8ec5fc64f3a6741f61b65c154c59d23b42d981db	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+abc1a6557ff44c3429b70ebbd6a85c958c9958a2	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+ec7dc5d45c85f2a55e82fe53fcd6976329a1caa8	@DISEASE$ is an extremely rare disorder at birth, that is, characterized by skeletal dysplasia with @PHENOTYPICFEATURE$ and midfacial hypoplasia, which has been reported to be caused by PDE4D and PRKAR1A gene mutations.	has_symptom
+66e70253ae92fff847153c992786f53e2b7c440d	@DISEASE$ is an extremely rare disorder at birth, that is, characterized by @PHENOTYPICFEATURE$ with short stature and midfacial hypoplasia, which has been reported to be caused by PDE4D and PRKAR1A gene mutations.	false
+fd61e867e08cc5b790a112c9bb8940e78d98bd1d	Acrodysostosis is an extremely rare disorder at birth, that is, characterized by @PHENOTYPICFEATURE$ with @DISEASE$ and midfacial hypoplasia, which has been reported to be caused by PDE4D and PRKAR1A gene mutations.	false
+2e36232e58f522158d4c6f1bcc2c77f6845e554d	@DISEASE$ is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, @PHENOTYPICFEATURE$, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation.	has_symptom
+897be60833da399b7cc16f67cc2f138df664e9f9	Acrodysostosis is a rare congenital anomaly @DISEASE$ characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of @PHENOTYPICFEATURE$.	false
+0cdaf5675b23360f0f220da58ccc1efefecb671a	@DISEASE$ is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of @PHENOTYPICFEATURE$.	false
+67d917a41472b0d2bf0b97c63a28ddc4ff223a6a	Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, @DISEASE$, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of @PHENOTYPICFEATURE$.	false
+a389ad3bd1d7b047b2063b362593a9f9743b15e9	Acrodysostosis is a rare @DISEASE$ syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of @PHENOTYPICFEATURE$.	false
+0cc99b3fb5131f92c019bda5096efc7f0da2ddfc	@DISEASE$ is characterized by a peripheral dysostosis that is accompanied by @PHENOTYPICFEATURE$, midface hypoplasia, and developmental delay.	has_symptom
+0ab1f99c5e742ce6ea6e922f96eb82a807580e85	@DISEASE$ is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, peculiar facial appearance with nasal hypoplasia, and short metacarpotarsals and phalanges with cone-shaped epiphyses.	has_symptom
+bdc1d3718617ad36ca4184bc1ce2128e4b2c96fb	@DISEASE$ is characterized by nasal hypoplasia, peripheral dysostosis, variable @PHENOTYPICFEATURE$, and intellectual impairment.	has_symptom
+7eef5fb82ac1b53fd9e91ffe7d996588b44203a3	Acrodysostosis is characterized by @PHENOTYPICFEATURE$, @DISEASE$, variable short stature, and intellectual impairment.	false
+81f94d435d2cb041e7e6e336b31f29e449b3a3df	Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5b6df5006e465feacd99e485d5f9443bba904fc8	Acrodysostosis is characterized by @PHENOTYPICFEATURE$, peripheral dysostosis, variable @DISEASE$, and intellectual impairment.	false
+8a0638fb648f2fc207a44b774a2768db5b6c3d8e	@DISEASE$ is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and @PHENOTYPICFEATURE$.	false
+f5996ac7165f298227d60532f8f22b2658b89854	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, peripheral dysostosis, variable short stature, and intellectual impairment.	false
+2d3b0b22a714213e0ef2d2affb0fd03ee8b9fba2	Acrodysostosis is characterized by nasal hypoplasia, @DISEASE$, variable short stature, and @PHENOTYPICFEATURE$.	false
+ad7eb57d61d7b8b1faecb7e3253b240f0e603ea5	@DISEASE$ is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and @PHENOTYPICFEATURE$.	has_symptom
+f123472bc4b5d7e2f2fc7896fde63a7f814e6e66	@DISEASE$ is a rare autosomal-dominant condition characterized by facial dysostosis, severe @PHENOTYPICFEATURE$ with cone-shaped epiphyses, and short stature.	false
+9f45b200e2d34b711fd4046784cc9c398499dc50	Acrodysostosis is a rare autosomal-dominant condition characterized by @DISEASE$ dysostosis, severe @PHENOTYPICFEATURE$ with cone-shaped epiphyses, and short stature.	false
+49b24fe82b9e1e2dd7a0dadcf46e9e0ff3dda84b	Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe @PHENOTYPICFEATURE$ with cone-shaped epiphyses, and @DISEASE$.	false
+3a4d6dea1a9e291ada478b5049a835f3df76e8a4	Acrodysostosis is a rare autosomal-dominant condition characterized by facial @DISEASE$, severe @PHENOTYPICFEATURE$ with cone-shaped epiphyses, and short stature.	false
+437848566b1a35d896f8a45b5f171334f46ae1ba	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and @PHENOTYPICFEATURE$, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	has_symptom
+3d60a796c993d58eb74ffeee8924c39ca633d0eb	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of @PHENOTYPICFEATURE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+faa1eb7483df1236e72218c59389e73f1121a25a	@DISEASE$ is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @PHENOTYPICFEATURE$, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+12f5bdcf0de0bd613bb8036cb9e1cf8c781e0cab	Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe @PHENOTYPICFEATURE$, midfacial hypoplasia, and @DISEASE$, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+75dfb1a65623b218aaa3bc123858e3c44feed46e	Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and @DISEASE$, varying degrees of @PHENOTYPICFEATURE$, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+dc01a4afb32e0ee28fe370298931cf5c90323aa0	Acrodysostosis is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe brachydactyly, midfacial hypoplasia, and @DISEASE$, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+77f4e437013b50b4f9e7dec95972b5a3e2311646	@DISEASE$ is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+bbc4881c91747c316f65762837946d511c6996f1	@DISEASE$ is an extremely rare disorder characterized by @PHENOTYPICFEATURE$ and peripheral dysostosis.	has_symptom
+180bfffcc01996aa3fd60c54a16f852e91b66b4e	A 21-year-old woman with a @PHENOTYPICFEATURE$ presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy @DISEASE$.	has_symptom
+26fe2723da45688e3bdf5ab6ce448bee71896199	@DISEASE$ syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, @PHENOTYPICFEATURE$, brain anomalies, congenital heart defects.	has_symptom
+d5e9373a7db37795be70bd115aeefddac9b9cbb5	@DISEASE$ syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, @PHENOTYPICFEATURE$.	false
+3111dd2d77490688147664f88a03e81080cf16f0	Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, @DISEASE$, brain anomalies, @PHENOTYPICFEATURE$.	false
+ea0187d56de499d6b9aa2c2fb6d70545b0ee0c55	Monosomy 1p36 @DISEASE$ is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, @PHENOTYPICFEATURE$.	false
+37f6f91c663313219a2550d98168309b851c3dba	Monosomy 1p36 syndrome is a recognized syndrome with multiple @DISEASE$; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, @PHENOTYPICFEATURE$.	false
+04b66221262e300035ddd063012cd98f8a2a1d30	Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, @DISEASE$ dysmorphisms, hearing loss, short stature, brain anomalies, @PHENOTYPICFEATURE$.	false
+22ef51c04fa8fd02a1881aeefc7f25d5a2ab1acd	Monosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, @DISEASE$, short stature, brain anomalies, @PHENOTYPICFEATURE$.	false
+edf382b3fd14eab7405bce7476bcebb89f71cf5c	The genetic cause of @DISEASE$ (CARASIL), which is characterized by ischemic, nonhypertensive, cerebral small-vessel disease with associated @PHENOTYPICFEATURE$ and spondylosis, is unclear.	has_symptom
+2fcd45b1a6c2fee5a6a7c0e560ef89f49c22a6ca	Mutations in CLCN1, the gene encoding this channel, cause two forms of inherited human muscle disorders: recessive generalized @DISEASE$ (Becker) and dominant @PHENOTYPICFEATURE$ (Thomsen).	has_symptom
+18d67234d8917341d4a32763a984cf2051dd84a2	Biochemical and electron microscopic studies on @DISEASE$ and @PHENOTYPICFEATURE$ dystrophica.	has_symptom
+1bb69e187210209b8e2634be76d01abd45ee2bd0	Myotonia; report of a case in transition between @DISEASE$ and @PHENOTYPICFEATURE$ dystrophica.	has_symptom
+d76f85638207f113e97bf2bdfd5d60c6261f4b08	The immunological functions were studied in 7 patients, including 5 @PHENOTYPICFEATURE$ dystrophica and 2 @DISEASE$.	has_symptom
+64c80f94d54f7d204994df53155ac468f4f3255f	CLCN1 @DISEASE$ mutation with a variable pattern of inheritance suggests a novel mechanism of dominant @PHENOTYPICFEATURE$.	has_symptom
+1ccffbfde2408c1f7d07062451734144760c7a33	Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized @PHENOTYPICFEATURE$ (Becker's disease, GM) and autosomal dominant @DISEASE$ (Thomsen's disease, MC).	has_symptom
+bea048a22920c914b9414b5a05089a2f88abc1d3	@DISEASE$ is thought to be the main cause of this @PHENOTYPICFEATURE$.	has_symptom
+671b76b9eb868672d4d086f70c93ed32b01f810b	With its high prevalence @DISEASE$ presents a significant cause of @PHENOTYPICFEATURE$ in the industrialized countries.	has_symptom
+2b6e5a9afbb86ee6b1ce842495c8a388fd0f7731	@DISEASE$ (RP) is a degenerative retinopathy leading to @PHENOTYPICFEATURE$ in more than 1.5 million patients worldwide.	has_symptom
+cde6b2e15febdac43991912d2a60202bc3c38c1f	@DISEASE$ is an inherited retinal dystrophy that leads to @PHENOTYPICFEATURE$.	has_symptom
+90891d4e2e644a7e3422067da73559e79a138780	To determine the mode of presentation and degree of @PHENOTYPICFEATURE$ of @DISEASE$ in Nigerians.	has_symptom
+28e116adf0ef3e51556649465bb3433679ada9ab	Blindness and @PHENOTYPICFEATURE$ in @DISEASE$: a Cameroonian hospital-based study.	has_symptom
+1cb604afd8955fab84f0f50cae20247a96403e17	@PHENOTYPICFEATURE$ and visual impairment in @DISEASE$: a Cameroonian hospital-based study.	false
+706408bcea83d45b2a293e7505e76a9e41854118	@PHENOTYPICFEATURE$ and @DISEASE$ in retinitis pigmentosa: a Cameroonian hospital-based study.	false
+74f1c1e8f96dc077bdc3f5276f57a82fac6619a0	To assess the psychological impact and the potential relationship between depression and @PHENOTYPICFEATURE$ in patients with @DISEASE$ (RP).	has_symptom
+8b5c7735ec80c41104a5c14298102a72837a1491	In 12 patients, we identified biallelic pathogenic variants; they had @DISEASE$ with early onset of @PHENOTYPICFEATURE$.	has_symptom
+42dcbe852b486a98a68d546cf87fe1bc6cd259bf	Frequency of central @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+08a8516fbacc03c52d2dc06bb234072b6d0f551d	Usher syndrome includes hereditary pathologies characterized by bilateral sensorineural deafness and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+597a69b2544ea444137ec7108c48770ced980104	The clinical findings overlap partially with @DISEASE$, which has been renamed by some authors "@PHENOTYPICFEATURE$ with linear skin defects" (MLS).	has_symptom
+4d04bea2921b65e93ec0ccae5e2a2515dabd6b8e	@DISEASE$ is a rare inborn error of metabolism characterized by @PHENOTYPICFEATURE$ / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea.	has_symptom
+524702659a34c260cceb8e4f363339b0dbb56bd4	@PHENOTYPICFEATURE$, myopic macular degeneration, cataract and @DISEASE$ were jointly the second most common cause, each accounting for 10% of all bilaterally blind persons.	has_symptom
+ad89d5be9ecaca57fd621f0f05d67ef7ecaf58b0	Glaucoma, @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa were jointly the second most common cause, each accounting for 10% of all bilaterally blind persons.	false
+30918fd10b8f732a17f2bdd9c577129505d9bd9c	@DISEASE$, myopic macular degeneration, @PHENOTYPICFEATURE$ and retinitis pigmentosa were jointly the second most common cause, each accounting for 10% of all bilaterally blind persons.	false
+e69f566a0e2fcbc38ecea41b15fc9897906aee32	Glaucoma, myopic macular degeneration, @PHENOTYPICFEATURE$ and @DISEASE$ were jointly the second most common cause, each accounting for 10% of all bilaterally blind persons.	false
+91562803099e010078ecd6f1256e6fcdff1e2d95	However, in this study, the cause for the binasal hemianopia was found to be ischemic optic neuropathy in two patients, and one case each of optic nerve drusen, @PHENOTYPICFEATURE$, congenital optic nerve pits, and @DISEASE$ sine pigmento.	has_symptom
+f00c67a57d09c48d2f81e550fb3ca2c906fa6961	A 53-year-old white man was noted to have bilateral @DISEASE$ associated with a left nevus flammeus, a left choroidal hemangioma and unilateral @PHENOTYPICFEATURE$.	has_symptom
+dffb22b313b5163afc7bb4daf67a56f2c611dd4f	@DISEASE$ associated with nevus flammeus and unilateral @PHENOTYPICFEATURE$.	has_symptom
+0da9600742f09724e87c426bc11b8a69c96db2bd	The main causes of blindness treated were: cataracts; @PHENOTYPICFEATURE$; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, @DISEASE$, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	has_symptom
+71029e1c8e3ecddbebec9b13008c34f7dc0845f3	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); @DISEASE$; and diabetic retinopathy.	false
+6e2e0d8d279341763a37006134d4e0fc8bf8d320	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (@DISEASE$, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+c2b08521634a11de8ae367bf9ca7a4f89f8d1b75	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary @DISEASE$ (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+b44eb3ca83812ef692eab7a86f2ef94c5c486edd	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); @DISEASE$; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+204a09544e53e634e265bf35cfac203141348be1	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; @DISEASE$; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+a07d5db474be80d5366bd8ec4f23c5e563a42ab8	The main causes of blindness treated were: cataracts; @DISEASE$; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+8df02010e3108f32d46d4b61468d7518eb04fa06	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); @DISEASE$; and diabetic retinopathy.	false
+800358a06a7ed6690a7bff3d6b881be85c47fd87	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (@DISEASE$ and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+9c0ab4e1a38193d3bf3e3d6ccd5bed584f536dbe	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; @DISEASE$; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+335303eb8116719cc73cca6d23246583e6734e68	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; @DISEASE$; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+ddf391af7cae990552d889805cd033f9ecdcd9b0	The main causes of @DISEASE$ treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+fee0eedc5683a9665a606dedb9ed8c995879f1f7	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, @DISEASE$, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+69f38e6cd07ef453557af2c0af8c99f18bcabe87	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and @DISEASE$.	false
+76849ec29ccb153d33b7ef1f59f27906a5a1a0f2	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; @DISEASE$; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+dec725a2276571bfd1efe4bdef09eb9fc1cbc703	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, @DISEASE$, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+bc1c398086bd5cdc3a54d42fbab8ad5e8ff128c9	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (@DISEASE$ and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+79dd7d075213ea131568a59dc91262a7efca5d34	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and @DISEASE$.	false
+811567260ade1215470222b360be535339c02b31	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); @DISEASE$; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+6a632371d8ef5bf5e10839efd0cf817b05d7e483	The main causes of blindness treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (@DISEASE$, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+13033453b2e4fb08e9e14a7615a6170c2b594817	The main causes of blindness treated were: @PHENOTYPICFEATURE$; @DISEASE$; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+28960176f03fd971c9079f366063edcfd83bb70f	The main causes of blindness treated were: @PHENOTYPICFEATURE$; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary @DISEASE$ (degenerative myopia, retinitis pigmentosa, albinism, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+9855d964b2db484c78ba0553b21395f7037b7443	The main causes of @DISEASE$ treated were: cataracts; glaucoma; optic nerve diseases (neuritis and atrophy); trauma; xerophthalmia; uveitis; hereditary retinal diseases (degenerative myopia, retinitis pigmentosa, @PHENOTYPICFEATURE$, and Stargardt's disease); retinal detachment; and diabetic retinopathy.	false
+4860dc1c33abfd4cfdd865f576fbeb4808f41bae	This review focuses on the role of NO in several ocular diseases, including diabetic retinopathy, @DISEASE$, @PHENOTYPICFEATURE$ or age-related macular degeneration (AMD).	has_symptom
+750f1c39207b7da40b2100517c026d2c05b8d650	Typical @DISEASE$, flat electroretinography, congenital sensorineural hearing loss, high intraocular pressure, Krukenberg spindle, iris concavity, radial iris transillumination defect, severe pigment deposition on the trabecular meshwork, and @PHENOTYPICFEATURE$ optic nerve damage were indicative of PG accompanied by Usher syndrome.	has_symptom
+a43d4fecfe9ac89b0ef4c9735a7a9293a88da683	In the retina, deregulation in activity and expression of different HDACs has been linked to pathological conditions such as @DISEASE$, retinal ischemia, @PHENOTYPICFEATURE$, and acute optic nerve injury.	has_symptom
+199f39d60e22159adc6f8641ed78869caac8fe6f	In congenital @DISEASE$ (CNDI), common presentations include @PHENOTYPICFEATURE$, polydipsia, polyuria and dehydration.	has_symptom
+072defbef3079d67b0004af471dac93647b046a2	@DISEASE$ usually presents with polyuria, polydipsia, fever, vomiting, dehydration and @PHENOTYPICFEATURE$.	has_symptom
+e04674ffa8985a77274061fe4b100fb0397d5b16	Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, @PHENOTYPICFEATURE$, vomiting, dehydration and @DISEASE$.	false
+de45973fa03ac358bee0b4f4df698f7c0d709381	Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, @PHENOTYPICFEATURE$, dehydration and @DISEASE$.	false
+99ae4a36956f102dee53029abd05ee0ec75d7d9f	@DISEASE$ usually presents with polyuria, polydipsia, @PHENOTYPICFEATURE$, vomiting, dehydration and failure to thrive.	false
+69da1b49ea5d625ea9e561407353307607c04342	@DISEASE$ usually presents with polyuria, polydipsia, fever, @PHENOTYPICFEATURE$, dehydration and failure to thrive.	false
+76151db15caa538b89c3426b6c216ace0e5cb2c9	A boy with bilateral frontal and occipital diffuse calcifications accompanied by @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and seizures, but without celiac disease is presented.	has_symptom
+e57bd597cd10e3ea082df61b8286871fdcab1dd0	A boy with bilateral frontal and occipital diffuse calcifications accompanied by @DISEASE$, nephrogenic diabetes insipidus, developmental delay and @PHENOTYPICFEATURE$, but without celiac disease is presented.	false
+d1db918b98045912d6cc280f1b3849d16ec0fde4	A boy with bilateral frontal and occipital diffuse calcifications accompanied by failure to thrive, @DISEASE$, developmental delay and @PHENOTYPICFEATURE$, but without celiac disease is presented.	false
+cb2bd1a8eb055b8f36505ea59f3364ff8d8ea02a	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @PHENOTYPICFEATURE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	has_symptom
+d0d2626f23991be7e32e98de0abbeb9a81741dc5	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+d9ca91e26b3cd394cc7fbe5c299695c374344e77	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @DISEASE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+a6e80df770db82eccebfbd497de83f90a9e89b50	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as @PHENOTYPICFEATURE$/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+78b7f098dc9b45b99eddaf2f0f10b8a0bda2f92d	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+485be61fe746db7462655b5a1d6acaa8626819aa	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+0a130d2460ff6b47b559f42ec5548c62cbdba8c9	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental @DISEASE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+873fa86d2b219d39ebc70e4260812c5ac3ae92e7	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental @DISEASE$ (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+582881ff21befbb860643850af840974f61dba4c	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+e33d3c4bc86b8e3ad7463d9d450c9830288abacc	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of @PHENOTYPICFEATURE$ or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+91551d9efcb1f75fa90832b82e2a04eed4b50d82	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or pervasive developmental delay, developmental @DISEASE$ (dyspraxia, receptive, and expressive delays), and occasionally, @PHENOTYPICFEATURE$.	false
+23ffbc904376212abca996a2261eb19b70aabb4f	The clinical features of SSADH deficiency include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (@DISEASE$, receptive, and expressive delays), and occasionally, seizures.	false
+acb1c73fbb47e7ecbdba5892ddb4084f6fea57a2	The clinical features of @DISEASE$ include nonspecific neurologic manifestations such as mental retardation/developmental delay, absent speech, hypotonia, nonprogressive @PHENOTYPICFEATURE$, features of autism or pervasive developmental delay, developmental language delay (dyspraxia, receptive, and expressive delays), and occasionally, seizures.	false
+e9dd916ed98079bf7433ae0f9761d1998befea03	The clinical picture of this disorder encompasses a wide spectrum of neurological and psychiatric dysfunction, such as psychomotor retardation, @PHENOTYPICFEATURE$, epileptic seizures and behavioural disturbances, emphasizing the multifactorial pathophysiology of @DISEASE$.	has_symptom
+593366144d7b49463d4bc179ed0fdb06a20e375f	The clinical picture of this disorder encompasses a wide spectrum of neurological and psychiatric dysfunction, such as psychomotor retardation, delayed speech development, @PHENOTYPICFEATURE$ and behavioural disturbances, emphasizing the multifactorial pathophysiology of @DISEASE$.	false
+fe66fbdf0080d8a7d57700f4308c4b9d3db4b6f0	The clinical picture of this disorder encompasses a wide spectrum of neurological and psychiatric dysfunction, such as psychomotor retardation, @DISEASE$, @PHENOTYPICFEATURE$ and behavioural disturbances, emphasizing the multifactorial pathophysiology of SSADH deficiency.	false
+aaa2f0d5f875e51de452a01398891438dbc5d3d4	@DISEASE$, a rare autosomal recessive disease, exhibits variable clinical phenotypes, including psychomotor retardation, @PHENOTYPICFEATURE$, behaviour disturbance and convulsions.	has_symptom
+14544737b2eb39230cbacaf0231324effda78fe3	We report a patient with @DISEASE$ who presented a mild phenotype including developmental @PHENOTYPICFEATURE$, in association with the typical elevations of 4-hydroxybutyric acid (GHB) in biological fluids and MRI alterations.	has_symptom
+1c6d73075672e77d85b48ef911dafcc0cc87ca5b	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, seizures, nystagmus, @PHENOTYPICFEATURE$, abnormal movements, and spasticity.	has_symptom
+6810651d41fb89d10605037d042718c86499c6dd	An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, @DISEASE$, abnormal movements, and @PHENOTYPICFEATURE$.	false
+1144bfd55a2562901d20591ee265d41fffa2465a	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and @PHENOTYPICFEATURE$.	false
+88ac09d24cc527f3f987d4e54aa279ce6a635513	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, @PHENOTYPICFEATURE$, nystagmus, visual impairment, abnormal movements, and spasticity.	false
+83f24ee6d0eacc072e83a284e39be03f9f366896	An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, @PHENOTYPICFEATURE$, nystagmus, @DISEASE$, abnormal movements, and spasticity.	false
+04409216519b04a7cc6959b1f2fe06c96ebc6811	To determine the refractive error in patients with @PHENOTYPICFEATURE$ @DISEASE$ (arRP) caused by RP1 mutations and to compare it with that of other genetic subtypes of RP.	false
+562e99fc5331aa36f95c593fbda5f7ab5eae70fb	@PHENOTYPICFEATURE$ and autonomic hyperactivity occur in patients with head trauma, hydrocephalus, neuroleptic malignant syndrome, and @DISEASE$.	has_symptom
+f359a286a137e2ff2cab1d35fe1dbb7325e5702c	Hyperthermia and autonomic hyperactivity occur in patients with head trauma, @PHENOTYPICFEATURE$, @DISEASE$, and fatal familial insomnia.	false
+c16c4ac49dc319c1d7092bc185fdc17bc3f164eb	@DISEASE$ and autonomic hyperactivity occur in patients with head trauma, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and fatal familial insomnia.	false
+77cdf4450e907ce3c4aaa608c738ecfac60296fd	Hyperthermia and autonomic hyperactivity occur in patients with head trauma, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and @DISEASE$.	false
+a8461f5255f5e179905fa00fa78ac2ff03d5e2c0	with a normal WT1 (Wilms' tumor) gene and an absence of pathology in the genitourinary tract, but with @PHENOTYPICFEATURE$ (@DISEASE$ with obesity, WAGRO syndrome).	has_symptom
+0b09f742d2da1825a6a8a6ec851e157779be837a	with a normal WT1 (Wilms' tumor) gene and an absence of pathology in the genitourinary tract, but with obesity (@DISEASE$ with @PHENOTYPICFEATURE$, WAGRO syndrome).	has_symptom
+4f3ad7acaf6fdbb083799cfcdfa9ec5532c553bd	Systemic abnormalities included increased average body mass index and @PHENOTYPICFEATURE$, which appeared to occur not only in @DISEASE$ but more broadly in aniridia.	has_symptom
+ad52cc0829fb7d67441d488479f8af5653b1260b	Brain-derived neurotrophic factor and @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+95e5cf8502a0b0918c56196034f377cc016b7c54	Hyperphagia and @PHENOTYPICFEATURE$ were observed in a subgroup of patients with the @DISEASE$.	has_symptom
+ea626e167eb91f32135a32ab19ef38516a2b7ddc	Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+d9e442d4c0c20c8e87d5a196ce76447a991970fd	It is possible that a gene associated with satiety is present at 11p13 although it is premature to conclude that @PHENOTYPICFEATURE$ is a specific feature of @DISEASE$.	has_symptom
+841c9360164725a00afff73e9aaa7fef1a0cc7cd	The typical deletion in @DISEASE$ encompasses the PAX6 and WT1 genes, but larger deletions have been associated with neurobehavioral abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+867e2ec2723597318f4e35443f7a2322ceaa5c81	We describe a 15-year-old boy with @DISEASE$ and @PHENOTYPICFEATURE$ and suggest that obesity should be added to the WAGR spectrum.	has_symptom
+fc2fde2a8e6d7cda8943bbaeb9e4a71725d9cb2e	We hypothesized that the subphenotype of @PHENOTYPICFEATURE$ in the @DISEASE$ is attributable to deletions that induce haploinsufficiency of BDNF.	has_symptom
+e174006ae46b519d2176099e4e2ef1ee1f1e83d8	The variable appearance and/or description of haploinsufficiency for @PHENOTYPICFEATURE$ susceptibility in the @DISEASE$ mainly depends on the critical region located within 80 kb of exon 1 of BDNF.	has_symptom
+7a2b164197124531fa78a8003051206d8db58312	@DISEASE$ is characterised by dwarfism, unique cutaneous lesions, a distinct facial gestalt, and @PHENOTYPICFEATURE$.	has_symptom
+b7b9d5e6173dcd78c03b980e26d0e2aa0d942e1b	@DISEASE$ is a well delineated @PHENOTYPICFEATURE$ syndrome of unknown aetiology in which the occurrence of benign tumours, especially papillomata, is recognised.	has_symptom
+00430cdc916c3d212655b5fc83aca2dd86cbdc53	Costello syndrome is a well delineated @DISEASE$ syndrome of unknown aetiology in which the occurrence of benign @PHENOTYPICFEATURE$, especially papillomata, is recognised.	false
+e9c813e280889ca542255bcb0b9f0b52dd8d3833	@DISEASE$ is a well delineated mental retardation syndrome of unknown aetiology in which the occurrence of benign @PHENOTYPICFEATURE$, especially papillomata, is recognised.	false
+ac3794d89a265f24828a7e88b31036d7431b4cb5	Costello syndrome is a well delineated mental retardation @DISEASE$ of unknown aetiology in which the occurrence of benign @PHENOTYPICFEATURE$, especially papillomata, is recognised.	false
+f2ea26e26f35c08d4dd0bb61b0db2f3609bc88b6	@DISEASE$ is characterized by constitutional mutations in the proto-oncogene HRAS, causing dysmorphic features, multiple cardiac problems, @PHENOTYPICFEATURE$, and an increased risk of neoplasia.	has_symptom
+10d7905fe8c130b2840bcafe9367a22bdd3e5869	Costello syndrome is characterized by constitutional mutations in the proto-oncogene HRAS, causing dysmorphic features, multiple cardiac problems, @DISEASE$, and an increased risk of @PHENOTYPICFEATURE$.	false
+41ec4321585ec6d7a9c00d0f00d26159dbfc8cee	@DISEASE$ is characterized by constitutional mutations in the proto-oncogene HRAS, causing dysmorphic features, multiple cardiac problems, intellectual disability, and an increased risk of @PHENOTYPICFEATURE$.	false
+6a0682181bdeb8703efbfbdf788dfdc2b7962b16	@DISEASE$ is a rare genetic disorder characterised by growth and @PHENOTYPICFEATURE$, macrocephaly, short neck and macroglossia.	has_symptom
+67021382c6ff8b3f9f9dca60c54afe81e725f4fc	Costello syndrome is a rare @DISEASE$ characterised by growth and mental retardation, @PHENOTYPICFEATURE$, short neck and macroglossia.	false
+a9b390efd4f08c9168fd34d4986f66d56c255194	@DISEASE$ is a rare genetic disorder characterised by growth and mental retardation, @PHENOTYPICFEATURE$, short neck and macroglossia.	false
+2e7715a77c7146ccaabb474b0630034eb8607106	Costello syndrome is a rare genetic disorder characterised by growth and @DISEASE$, @PHENOTYPICFEATURE$, short neck and macroglossia.	false
+ef471eef119099f001bc32edb6f1048e8353071b	@DISEASE$ (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, @PHENOTYPICFEATURE$ and cardiomyopathy.	has_symptom
+57f7a58095923e3e132e346129f7635f42defa82	Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, mental retardation and @DISEASE$.	false
+2e93b20d2b49be16add345889d7556feb190213b	Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, @DISEASE$ and cardiomyopathy.	false
+347d5d95964a99f69d442682d6238f8de1cbaca4	@DISEASE$ (CS) is a congenital disease that is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, mental retardation and cardiomyopathy.	false
+92c22bfae763e2173f4821d36b774c3b41a61c75	@DISEASE$ is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, short stature, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+1fef4482d50e6f8ecf12278fdeee0d5d5dbaf1d1	Costello syndrome is a multiple congenital anomaly @DISEASE$ consisting of dysmorphic facies, cutis laxa, @PHENOTYPICFEATURE$, developmental delay, and mental retardation.	false
+fcac8e8b776bc875ff4166c0edf188cc7ab00859	@DISEASE$ is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, @PHENOTYPICFEATURE$, developmental delay, and mental retardation.	false
+217f01cfcb739445f506c1295cd299d610e09872	Costello syndrome is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+7a28b0030ee6dea5435e6d1c70c240e57a43e624	Costello syndrome is a multiple @DISEASE$ syndrome consisting of dysmorphic facies, cutis laxa, @PHENOTYPICFEATURE$, developmental delay, and mental retardation.	false
+aaec32daccff3ee4163283f2e661303ef7c320e5	An 8-month-old boy having multiple congenital anomalies (MCA) and @PHENOTYPICFEATURE$ (MR) as part of the @DISEASE$ is described.	has_symptom
+375923804236d8c9da232fc975f6fb215508fbfa	The @DISEASE$ is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and @PHENOTYPICFEATURE$.	has_symptom
+78f80f156ab90fb05c827e5b950451b84f13c993	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, loose skin, coarse face, skeletal deformations, cardiomyopathy, and predisposition to numerous malignancies.	has_symptom
+2999db450aea5381067392faed3b3bec5e98b721	@DISEASE$ is characterized by postnatal growth deficiency, @PHENOTYPICFEATURE$, curly hair, coarse characteristic face, and loose skin of hands and feet.	has_symptom
+ccbc66fe90882dfeb5e83c98cfef917741d70653	Our observation indicates that @PHENOTYPICFEATURE$, pulmonary involvement, skeletal findings are the most notable features distinguishing @DISEASE$ from Cornelia de Lange syndrome.	has_symptom
+8b7cb56bf548b54d372bfdfb01dab137055a8c57	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for @PHENOTYPICFEATURE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	has_symptom
+f24b74d7ef2011af2dfacc70d396a82273e55106	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+738b91f8282d56832c6abd531d325eea8dd36975	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	false
+0ed67c3917f7e26946d1fd72d0adc5c4f7d7c5a0	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @DISEASE$, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	false
+d05984e18043bc26b9ed2d8c41ae41212b6f80e6	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+8fc907d9dcf9cfb142a099c5b3acfb292ac3f5b5	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for @DISEASE$, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+50606e3e2ab2a5f47d0a2e9c08fe2106185086e9	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+a5f640cb7e3b1774e4ac9118005f973509a3f6c5	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for @PHENOTYPICFEATURE$ and skeletal dysplasia).	false
+af827c881f6a023e8b53e8466eb91efb6e49c982	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for @PHENOTYPICFEATURE$, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia).	false
+6c6643eeef0f6a68215839387adb755f6dd9c473	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for @DISEASE$, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+4babdf57ed9eee38b52af1c1ff4aa847bc44287c	Acute hemorrhagic edema of infancy (AHEI) is a @DISEASE$ that affects children under 2 years of age and is clinically characterized by @PHENOTYPICFEATURE$, extensive tender edema and large purpuric lesions that involve mainly the face, ears and limbs.	has_symptom
+1be173a50543e95c246462b6bc43175c4f04f880	Acute hemorrhagic edema of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis that affects children under 2 years of age and is clinically characterized by @DISEASE$, extensive tender @PHENOTYPICFEATURE$ and large purpuric lesions that involve mainly the face, ears and limbs.	false
+41b97ecca65c855600409e65a58a5d05efc11a4e	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis that affects children under 2 years of age and is clinically characterized by @DISEASE$, extensive tender edema and large purpuric lesions that involve mainly the face, ears and limbs.	false
+73ffea9452c36811d88c1818d66a0c3fef59203e	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI) is a @DISEASE$ that affects children under 2 years of age and is clinically characterized by fever, extensive tender edema and large purpuric lesions that involve mainly the face, ears and limbs.	false
+e4118afd8c09d65c52f42c78050302e7a0f9aa83	Acute hemorrhagic edema of infancy (AHEI) is a @DISEASE$ that affects children under 2 years of age and is clinically characterized by fever, extensive tender @PHENOTYPICFEATURE$ and large purpuric lesions that involve mainly the face, ears and limbs.	false
+5c234d9b1a9bc1f7f58392bd430bbc0fc921f59e	@DISEASE$ (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, @PHENOTYPICFEATURE$, and variable developmental delays.	has_symptom
+84deb69eee34b29beff8a84c17d18c93d5e23ad3	@DISEASE$ (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, @PHENOTYPICFEATURE$, pectus deformities, and variable developmental delays.	false
+6d7caf43f9b298a35ff013944f4be466ddf8ab74	Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, @PHENOTYPICFEATURE$, congenital heart defects, @DISEASE$, and variable developmental delays.	false
+6207460625d4e9a958f6db447eaaf3215f40031b	Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and variable developmental delays.	false
+2b874c5a74d319fe4e3f3bb22c9ea58236d0bb38	@DISEASE$ (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, @PHENOTYPICFEATURE$, congenital heart defects, pectus deformities, and variable developmental delays.	false
+0670b2c7ac972c439e1fd60e9a192eec5594bd88	@DISEASE$ (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual @PHENOTYPICFEATURE$ and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	has_symptom
+bcddf19a8174c2900a61cf70d78e23fdcc6055f6	Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, @PHENOTYPICFEATURE$, unusual @DISEASE$ and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	false
+77c49a848c5959aa06b532a459fd19ea51a33ba4	Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including @PHENOTYPICFEATURE$, congenital heart defect, unusual pectus deformity and typical @DISEASE$ features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	false
+5fc1fc9bef96992bea81f491ccd74522599cee89	@DISEASE$ (NS), a heterogeneous developmental disorder associated with variable clinical expression including @PHENOTYPICFEATURE$, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	false
+dbff4c9d32d86edf06ee0c380cfba0af1d382aa3	Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, @PHENOTYPICFEATURE$, unusual pectus deformity and typical @DISEASE$ features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	false
+96548ff4de25679f69b6b938eac3ebb2095cd761	Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including @PHENOTYPICFEATURE$, congenital heart defect, unusual @DISEASE$ and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	false
+9e3f9cf308b30a09757aae56c2d4fc8be5a428d1	@DISEASE$ (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, @PHENOTYPICFEATURE$, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway.	false
+f2320e91dacd6e60fefb0593b17af5e50e0d90b2	We report on a 16-year-old boy with @DISEASE$ who had short stature, hypertelorism, mild hearing loss, webbed neck, @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	has_symptom
+a10140667b2a831b44b33841e914fd321265c8ca	We report on a 16-year-old boy with @DISEASE$ who had @PHENOTYPICFEATURE$, hypertelorism, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+14aba7386480fe5405190f6d68c5bc765916425f	We report on a 16-year-old boy with Noonan syndrome who had short stature, @PHENOTYPICFEATURE$, mild hearing loss, webbed neck, pectus deformities, @DISEASE$, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+8fe6fcc594e08df684e83b54f5383a078ea9b1b0	We report on a 16-year-old boy with Noonan syndrome who had @PHENOTYPICFEATURE$, hypertelorism, mild @DISEASE$, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+b271c1394dfa94769e0dbeb0d24b5b6ae7c1acf2	We report on a 16-year-old boy with Noonan syndrome who had @PHENOTYPICFEATURE$, hypertelorism, mild hearing loss, webbed neck, pectus deformities, @DISEASE$, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+14311c83b6701d1e4192162141b4e0f8b406a1f0	We report on a 16-year-old boy with Noonan syndrome who had @PHENOTYPICFEATURE$, hypertelorism, mild hearing loss, webbed neck, @DISEASE$, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+32f6ee6d5351bdadffbe4307399f6cc0fd853018	We report on a 16-year-old boy with Noonan syndrome who had short stature, @PHENOTYPICFEATURE$, mild @DISEASE$, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+9ffa33a36cc07c24c3b7c8f29e9b04158cafa6e6	We report on a 16-year-old boy with Noonan syndrome who had short stature, @PHENOTYPICFEATURE$, mild hearing loss, webbed neck, @DISEASE$, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+433ba27235251da47c2b40bb7521797dfa0a0023	We report on a 16-year-old boy with @DISEASE$ who had short stature, @PHENOTYPICFEATURE$, mild hearing loss, webbed neck, pectus deformities, hypertrophic cardiomyopathy, low posterior hairline, redundant skin, caf? au lait spot, curled hairs, foetal pads, and undescended testes.	false
+3adf39b0fb68bcbcfb3c1b96d3fa3eed6b2989b7	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @PHENOTYPICFEATURE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	has_symptom
+a53489a214b75c325388cfc9eb2a5c41fc035e5d	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @DISEASE$ and @PHENOTYPICFEATURE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+b2f48ae915197ae83d3255a6ee95a07b9704906d	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+e1ca5f28a7a010d7cf2ec1cd313268531dfdc6f2	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @PHENOTYPICFEATURE$, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+9e0cd22d121ad1424789fe93a64482dab4c2e979	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @PHENOTYPICFEATURE$, @DISEASE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+e46ffdb117842d54532ec1cfc2c0b2b049f3e225	The additional phenotypic manifestations in this family-proportionate short stature, @PHENOTYPICFEATURE$, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @DISEASE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+83b13439403720dc05dd47e0130ed89a2b008d49	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and @PHENOTYPICFEATURE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+1acd9350783e734b9560892a9dd2a427e9221bb2	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @DISEASE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+04796464d4d26dd3734de97db0dab5e9df0a1822	The additional phenotypic manifestations in this family-proportionate short stature, @PHENOTYPICFEATURE$, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+9c1d1606fd2197c78df0ae5ee6d49da83feacd5d	Also included is the utilization of mTOR inhibitors in both advanced @PHENOTYPICFEATURE$ (RCC) and in patients with @DISEASE$ (TSC) associated angiomyolipoma (AML).	has_symptom
+a30a629bd973ac185c112c9a696702152b498730	To gain insight into the C-terminal recognition region of ubiquitin by DUBs, we synthesized positional scanning libraries of fluorigenic tetrapeptides and tested them on three examples of human DUBs [OTU-1 (ovarian @PHENOTYPICFEATURE$ 1), Iso-T (isopeptidase T) and UCH-L3 (ubiquitin C-terminal hydrolase L3)] and one viral ubiquitin-specific protease, namely PLpro (papain-like protease) from SARS (@DISEASE$) virus.	has_symptom
+aa6e5154163716da2bf8b08d3f91d9c0cb76909b	The relationship between DNA double-strand break rejoining rates, inherent radiation sensitivity and @PHENOTYPICFEATURE$ response to radiation therapy was determined for a group of 25 squamous cell carcinoma (SCC) and eight sarcoma (@DISEASE$) tumours.	has_symptom
+f6c723291563b4c79906146cdda25bae8d2fbe19	The relationship between DNA double-strand break rejoining rates, inherent radiation sensitivity and tumour response to radiation therapy was determined for a group of 25 squamous cell carcinoma (SCC) and eight sarcoma (@DISEASE$) @PHENOTYPICFEATURE$.	has_symptom
+5b2d2604f2a3186f4450327c6354acacda80ca2b	Expression and mechanism of action of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor in prostate cancer.	has_symptom
+360e4f625a4d6c9ed4422040574c23f344594ba1	Manuscripts address the use of molecular techniques in the detection of @DISEASE$ (SARS) and bacterial ribosome mutations, which may lead to ribosome-targeted drug resistance; pharmacogenomics as a clinical laboratory service and example of warfarin dosing using CYP2C9 mutation analysis; definition of the potential of cytosine arabinoside incorporation into DNA to disrupt transcription using an in vitro model of oligonucleotides; use of laser capture microdissection to isolate solid @PHENOTYPICFEATURE$ cells free of nontumor cells; and molecular methods used to classify lymphomas.	has_symptom
+95140a4e97c5124baf2f2a19ab5f5fe18b3a9dcd	There was no significant difference between SCC and SAR tumour cells in their sensitivity to break induction, but in a 1 h time period @DISEASE$ tumour cells rejoined significantly fewer breaks than SCC @PHENOTYPICFEATURE$ cells, consistent with the greater sensitivity of SAR and suggesting that differences in rates of break rejoining account for the different distributions of radiosensitivities seen when different tumour types are compared.	has_symptom
+7e371179167fdbdd0467b219a0fcf47ed5ebfa36	There was no significant difference between SCC and @DISEASE$ tumour cells in their sensitivity to break induction, but in a 1 h time period SAR tumour cells rejoined significantly fewer breaks than SCC tumour cells, consistent with the greater sensitivity of SAR and suggesting that differences in rates of break rejoining account for the different distributions of radiosensitivities seen when different @PHENOTYPICFEATURE$ types are compared.	has_symptom
+073ebec31ede53334eca12f35d0d03089ac51491	There was no significant difference between SCC and SAR @PHENOTYPICFEATURE$ cells in their sensitivity to break induction, but in a 1 h time period @DISEASE$ tumour cells rejoined significantly fewer breaks than SCC tumour cells, consistent with the greater sensitivity of SAR and suggesting that differences in rates of break rejoining account for the different distributions of radiosensitivities seen when different tumour types are compared.	has_symptom
+81ef6bf82f7fde4702ae444b22f163d1fecbafa8	There was no significant difference between SCC and SAR tumour cells in their sensitivity to break induction, but in a 1 h time period @DISEASE$ tumour cells rejoined significantly fewer breaks than SCC tumour cells, consistent with the greater sensitivity of SAR and suggesting that differences in rates of break rejoining account for the different distributions of radiosensitivities seen when different @PHENOTYPICFEATURE$ types are compared.	has_symptom
+5770d9080e7bd5edf9f3479c7a4e31e6a30a3aaa	There was no significant difference between SCC and @DISEASE$ @PHENOTYPICFEATURE$ cells in their sensitivity to break induction, but in a 1 h time period SAR tumour cells rejoined significantly fewer breaks than SCC tumour cells, consistent with the greater sensitivity of SAR and suggesting that differences in rates of break rejoining account for the different distributions of radiosensitivities seen when different tumour types are compared.	has_symptom
+a4e23ca437d33933a5e18d31bf8a002634d31c60	There was no significant difference between SCC and @DISEASE$ tumour cells in their sensitivity to break induction, but in a 1 h time period SAR tumour cells rejoined significantly fewer breaks than SCC @PHENOTYPICFEATURE$ cells, consistent with the greater sensitivity of SAR and suggesting that differences in rates of break rejoining account for the different distributions of radiosensitivities seen when different tumour types are compared.	has_symptom
+0f857ef38c7fc5c073477afe28b2f13bb2f81ff1	The rash associated with @DISEASE$ is most commonly an erythematous maculopapular eruption that presents after an initial 3-4?days of fever, headache, and @PHENOTYPICFEATURE$ or myalgia.	has_symptom
+893824d7f28c8129d4b52defca5d3e00394b9692	Orofacially, @DISEASE$ patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, @PHENOTYPICFEATURE$, malar hypoplasia, high arched palate, dental crowding, and root anomalies.	has_symptom
+894930ce735539da2c93944e57b672f7af36991b	Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, @PHENOTYPICFEATURE$, high arched @DISEASE$, dental crowding, and root anomalies.	false
+5a6fd50ccd596559fd8f1b5fa4fe525499a6f360	Orofacially, @DISEASE$ patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, @PHENOTYPICFEATURE$, high arched palate, dental crowding, and root anomalies.	false
+2a4f64ac04e5b3bcdf140e5e399a354c5ba2a9cb	Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, @DISEASE$, @PHENOTYPICFEATURE$, high arched palate, dental crowding, and root anomalies.	false
+99a0f200e228554d6ca57fca6eca0b2ecafbe88c	However, a strong correlation was found between maxillary/@PHENOTYPICFEATURE$, long face, highly arched palate, and @DISEASE$.	has_symptom
+edd6b0fbddd1da8012ff05005b78a500163dfc48	We have studied a 2-year-old girl with acanthosis nigricans, glucose intolerance, marked @PHENOTYPICFEATURE$, and somatic features characteristic of the @DISEASE$ syndrome.	has_symptom
+692ee4128518db99a33f14f1cced0510b469cd09	Sepiapterin reductase deficiency (@DISEASE$) causes depletion of biogenic amines in the brain, early onset motor disorder, and @PHENOTYPICFEATURE$.	has_symptom
+ac946bc6fb753a0921a58b92cdd881629b674d07	@DISEASE$ (SRD) causes depletion of biogenic amines in the brain, early onset motor disorder, and @PHENOTYPICFEATURE$.	has_symptom
+f1a99764e6ee70ebfd43ec33ea3c0d07c9cfe1f8	@DISEASE$ often causes @PHENOTYPICFEATURE$ with relatively high mortality rate.	has_symptom
+39cfd9bbf1c69c8bf6a6d10c00c49363c37ab4f1	@DISEASE$ causes mainly septicemia, @PHENOTYPICFEATURE$ (meningitis and meningoencephalitis) and abortions.	has_symptom
+8b9eac42f56d56db435c4cd25827fd5e40fa7be6	@DISEASE$ is a rare food borne infection which, in the invasive form, presents as bloodstream infection, @PHENOTYPICFEATURE$, materno-fetal infection, or focal infection.	has_symptom
+f89d4cb5c073eb34796676187e281990b630b33d	Mice deficient in GlyT2 are normal at birth but during the second postnatal week develop a lethal neuromotor deficiency that resembles severe forms of human hyperekplexia (hereditary @DISEASE$) and is characterized by @PHENOTYPICFEATURE$, tremor, and an inability to right.	has_symptom
+6c0848c1e8c40bf19e20fd49456e2cdcd1d4cf3d	Genetic studies on this neonate confirmed @DISEASE$, which presented as exaggerated Moro reflex and apnea that mimicked @PHENOTYPICFEATURE$.	has_symptom
+aa49f2bb316ebaace8254f88f6f996a6060db67e	@DISEASE$ is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-@PHENOTYPICFEATURE$, excessive muscle stiffness and neonatal apnea episodes.	has_symptom
+9e1df0bc9ed46210342dfc028632db95c6034bd5	Startle disease is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-@DISEASE$, excessive muscle stiffness and neonatal @PHENOTYPICFEATURE$ episodes.	false
+d7884e3387f800081fa61aa5916c143c2c5d84b7	Startle disease is an inherited @DISEASE$ that causes affected individuals to suffer noise- or touch-induced non-epileptic seizures, excessive muscle stiffness and neonatal @PHENOTYPICFEATURE$ episodes.	false
+6a5b08c63a0d4f0381d33a702e3eca9690b1f970	@DISEASE$ is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-epileptic seizures, excessive muscle stiffness and neonatal @PHENOTYPICFEATURE$ episodes.	false
+47ad45e5be42027c8dc9397a52e8f6308956f9e7	This study compared the efficacy of two different injection sites for subconjunctival anaesthesia (@DISEASE$) in @PHENOTYPICFEATURE$ surgery.	has_symptom
+f7450323737a3bf550ab0f5dca2720bfeeda2952	Subjective patient questionnaires and the medical records of 133 consecutive @DISEASE$ patients who had scleral tunnel phacoemulsification @PHENOTYPICFEATURE$ surgery were analyzed.	has_symptom
+07ac73fd758a4344f1dbf3459570998b2ecf1737	A combined technique of topical anesthesia (TA) and subconjunctival anesthesia (@DISEASE$) was used in 73 consecutive patients undergoing scleral tunnel phacoemulsification @PHENOTYPICFEATURE$ surgery.	has_symptom
+e55dc6abe6e2fa23027e4e1b24d71f3a6fe04623	This article reports the results of using subconjunctival anesthesia (@DISEASE$) in @PHENOTYPICFEATURE$ surgery.	has_symptom
+138b08d3f003cafa2a9993b9970d367071ebc462	Of 24 patients (boys, 58%; median age at diagnosis: 6.3 years) with @DISEASE$-inflammatory bowel disease (@PHENOTYPICFEATURE$, n?=?21; Crohn's disease, n?=?1; undifferentiated, n?=?2), 63% (n?=?15) were diagnosed during follow-up for colitis, and 21% (n?=?5) presented with acute or chronic hepatitis, 17% (n?=?4) presented simultaneously.	has_symptom
+43782ee7a8fe363b3edb98aae7bbe7c1db7ca42f	The prevalence of @DISEASE$22q11-syndrome among babies with @PHENOTYPICFEATURE$ with or without additional malformations was 1 of 57 (1.8%).	has_symptom
+d0316d6ca7f4334843a1fc2c6fcfc150c9b06869	@DISEASE$: how do postsurgical cyst size and @PHENOTYPICFEATURE$ outcome correlate?	has_symptom
+5aeaab7e45472598019c954aed99c0527d577105	@DISEASE$: does surgery improve @PHENOTYPICFEATURE$ and headaches?	has_symptom
+65bb16001c30308d39e752f92f5c75ce7e5acedb	@DISEASE$ can be associated with @PHENOTYPICFEATURE$, but their topography presents a challenge to standard techniques for the placement of subdural grids.	has_symptom
+f1e4de042331074ecb6bd7465de3600baaa58702	Bilateral @DISEASE$, @PHENOTYPICFEATURE$ and severe encephalopathy: case report.	has_symptom
+696e6f6c65e5a2abdde002907a011261e555f91c	Focal segmental glomerulosclerosis (@DISEASE$) is a common cause of proteinuria and nephrotic syndrome leading to @PHENOTYPICFEATURE$ (ESRD).	has_symptom
+bbbe9df30c5d63046b8a1cb927e8bc1687c0232c	@DISEASE$ (FSGS) is a common cause of proteinuria and nephrotic syndrome leading to @PHENOTYPICFEATURE$ (ESRD).	has_symptom
+5ca57b448a6d62ef398f545f9c115084100a20fc	Focal and Segmental Glomerulosclerosis (@DISEASE$) is a severe glomerulopathy that frequently leads to @PHENOTYPICFEATURE$.	has_symptom
+d15cfcaacad382d74ea7e920576182e991a4a39f	The most common cause of @PHENOTYPICFEATURE$ was @DISEASE$ (57.3%).	has_symptom
+b605c71352332f3d2bf47273e020fc80880d6f6d	Clinically, the disease presented as Friedreichs's @PHENOTYPICFEATURE$, and pathologically it was characterized by @DISEASE$.	has_symptom
+e3df62667736e60d6770e1e48a4af3df96abbdd3	Patients with @DISEASE$-parkinsonism show more severe and more widespread cognitive dysfunctions than patients with multiple system atrophy-@PHENOTYPICFEATURE$.	has_symptom
+6936c93a065d2bace34f7f4a950527e84eea6e17	Patients with multiple system atrophy-parkinsonism show more severe and more widespread cognitive dysfunctions than patients with @DISEASE$-@PHENOTYPICFEATURE$.	has_symptom
+b1de80fe6f1ded8de3c1ed2193bbebf17210e633	Patients with @DISEASE$-@PHENOTYPICFEATURE$ show more severe and more widespread cognitive dysfunctions than patients with multiple system atrophy-cerebellar ataxia.	false
+beabe701dc5c17c7d24c876f3267ce9017195e0a	Patients with multiple system atrophy-@PHENOTYPICFEATURE$ show more severe and more widespread cognitive dysfunctions than patients with @DISEASE$-cerebellar ataxia.	false
+2413eaf31674a9f6ec6172e77b52cd49094711bc	Patients with multiple system atrophy-@PHENOTYPICFEATURE$ show more severe and more widespread cognitive dysfunctions than patients with multiple system atrophy-@DISEASE$.	false
+d14ce49dfc197cd22f0d1ed5cfa0f13ab0bf5a97	Olfactory dysfunction in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e08bdf3f5e4a954596393fd3b0afdadc1c7bb71e	Complex neurochemical diseases, as @DISEASE$, had @PHENOTYPICFEATURE$ worsened by GABAergic drugs.	has_symptom
+4e2e1c61aa9b0520b4934b79b4c9ebdfeaadfad2	Preliminary study of intravenous amantadine treatment for ataxia management in patients with probable @DISEASE$ with predominant @PHENOTYPICFEATURE$.	has_symptom
+1a77960690317b6a29d83f63aa6d1f8d944e9785	Preliminary study of intravenous amantadine treatment for @PHENOTYPICFEATURE$ management in patients with probable @DISEASE$ with predominant cerebellar ataxia.	has_symptom
+3296445a3b71b29d05db5438c7005549a8ec4d97	@DISEASE$ and idiopathic late @PHENOTYPICFEATURE$ are degenerative non-hereditary ataxias.	has_symptom
+3676f3cfb910ef3cb57f469791d59ccfbb5ae42b	Electronic message @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+35138c36a5b2f1f203fa9c86003ce7fd408d78da	Most sporadic forms of ataxia were @DISEASE$ with predominant @PHENOTYPICFEATURE$ (MSA-C) subtype.	has_symptom
+2d23392b6d6b729c6587356a257a2cab00d1932c	Most sporadic forms of @PHENOTYPICFEATURE$ were @DISEASE$ with predominant cerebellar ataxia (MSA-C) subtype.	has_symptom
+74d7acca66d43df8a024b4d17dbb4593fb0b7e15	Is multiple system atrophy with @PHENOTYPICFEATURE$ (MSA-C) like spinocerebellar ataxia and @DISEASE$ with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pathophysiology.	has_symptom
+14a613cc419d21c59ccd6a1e781b17a06c617b95	Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$ with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pathophysiology.	has_symptom
+fa0c7de5508796e7ad19a0dd780773b0a1a72c7a	Is @DISEASE$ with cerebellar ataxia (MSA-C) like spinocerebellar @PHENOTYPICFEATURE$ and multiple system atrophy with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pathophysiology.	has_symptom
+2df73a3f7338d3bc39963b20bcdc23b8d2c6954e	Is @DISEASE$ with @PHENOTYPICFEATURE$ (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pathophysiology.	has_symptom
+764f2e0fa95693c1b3c28797d1630a1be7218707	Ninety percent of @DISEASE$ patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, @PHENOTYPICFEATURE$, and compromised oral health.	has_symptom
+de614ef1883da60ffac622096612f01cc919236d	Untreated @DISEASE$ (PKU) may result in nonphenylketonuric offspring with mental retardation, @PHENOTYPICFEATURE$, congenital heart disease, and low birth weight.	has_symptom
+205740188cc175ba28aa6b790f980022dd346445	Untreated maternal phenylketonuria (@DISEASE$) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, microcephaly, congenital heart disease, and low birth weight.	false
+ee84078ab28c6c503f377a7631d0a9d0f4546f63	Untreated @DISEASE$ (PKU) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, microcephaly, congenital heart disease, and low birth weight.	false
+05dffa2ef0946b3e5689e1bee09e897ca7e7584f	Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, and low birth weight.	false
+6bc55b9a507dcddd09c23185818ffbd0f714a868	Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and low birth weight.	false
+a376dd886f3f711225489017cfcae4a2d93516fc	Ultrasonographic failure of early detection of fetal @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7f4b91c87fb06250d8a61105897e4ef3d97773c8	Untreated @DISEASE$ or hyperphenylalaninemia may result in nonphenylketonuric offspring with low birth weight and neonatal sequelae, especially @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+02f60573468a694fd664a8be5b3694c194b048b0	Untreated @DISEASE$ or hyperphenylalaninemia may result in nonphenylketonuric offspring with low birth weight and neonatal sequelae, especially microcephaly and @PHENOTYPICFEATURE$.	false
+da20ce905fbe46b93da6928dcc2b95b6b6fc873f	Untreated maternal PKU or hyperphenylalaninemia may result in nonphenylketonuric offspring with low birth weight and neonatal sequelae, especially @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bbdee323886e267390bc315ff8fc530fbc230785	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and @PHENOTYPICFEATURE$ and the anal atresia in 1 child.	has_symptom
+e818da857f0468e95d75e29f00319f8291f530a4	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and @PHENOTYPICFEATURE$ in 6 children, and microcephaly and the anal atresia in 1 child.	has_symptom
+7b785e052bf2d4b76e6763fe204622a25df751e4	Among the children with @DISEASE$ syndrome: @PHENOTYPICFEATURE$ was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	has_symptom
+09462fa64135a94f2694929400306f1274be7f9b	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, @PHENOTYPICFEATURE$ and microcephaly in 6 children, and @DISEASE$ and the anal atresia in 1 child.	false
+9b9744ed285a8b457e9a56410feef544cb10cba3	Among the children with maternal PKU @DISEASE$: microcephaly was diagnosed in 17 cases, @PHENOTYPICFEATURE$ and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	false
+829c91f78cebe31c428f4ac515f445b1250206b8	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and @DISEASE$ in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+c6e8d94523d2b7077a5d7e166ffa7e8310c9257c	Among the children with maternal PKU syndrome: @DISEASE$ was diagnosed in 17 cases, @PHENOTYPICFEATURE$ and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	false
+8b3650e2b214b1daeb3f60249b3fbb2389da0235	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+4c50fb9fd7f3d4bf4e4bf05ebfd5085e5e31fad3	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, @PHENOTYPICFEATURE$ and @DISEASE$ in 6 children, and microcephaly and the anal atresia in 1 child.	false
+07bc0b4c76c7d5cb442d6374efd7b0db9c11df96	Among the children with maternal PKU @DISEASE$: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+800eb7ee6bc91734a9c0c8774b5a4ea0947fa071	Among the children with maternal PKU syndrome: @DISEASE$ was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+a0fc6b692e0724236d382db0d7c6c9bb4790cb59	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, @PHENOTYPICFEATURE$ and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.	false
+7a3d8794a243011957618cc513e31a01b3d83178	Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and @DISEASE$ and the @PHENOTYPICFEATURE$ in 1 child.	false
+0591424f6559d38cb57923e6a99408fa7048a6de	@DISEASE$ (PKU) is an embryo-fetal syndrome including @PHENOTYPICFEATURE$ and various organ (mainly cardiac) defects.	has_symptom
+567c020947abb8e629d12ae5c1c3123d624517d4	Here, we report two families in whom we observed recurrent left heart malformations associated with @PHENOTYPICFEATURE$ masquerading as a mendelian condition and revealing a @DISEASE$.	has_symptom
+1c430097264ce67fd027e53df81e41d218a98508	Fetus or infant born with unexplained growth retardation and @PHENOTYPICFEATURE$ requires search for @DISEASE$.	has_symptom
+3a8f7ad87a9ccf67123e6955f2b6d2890dfa66e2	Fetus or infant born with unexplained @PHENOTYPICFEATURE$ and @DISEASE$ requires search for maternal PKU.	false
+0f0591e2b411999b098c2f380f37c4b71267b680	Fetus or infant born with unexplained @PHENOTYPICFEATURE$ and microcephaly requires search for @DISEASE$.	false
+49d97302cd382130e29c9b5f23b1ccd9aa4fc98b	@DISEASE$ constitutes a potential hazard to the fetus for whom the risks of postnatal mental retardation, @PHENOTYPICFEATURE$, and congenital malformations are elevated.	has_symptom
+6866818a2153a142b498a5f0f2761467642a9d96	@DISEASE$ constitutes a potential hazard to the fetus for whom the risks of postnatal @PHENOTYPICFEATURE$, microcephaly, and congenital malformations are elevated.	false
+d8dfe686d47d6bbff5b4384bc784aea6eb6788d6	Maternal hyperphenylalaninemia constitutes a potential hazard to the fetus for whom the risks of postnatal @PHENOTYPICFEATURE$, @DISEASE$, and congenital malformations are elevated.	false
+764ddc894c98f990af9ab340776b46ff3ac6ef0e	Maternal hyperphenylalaninemia constitutes a potential hazard to the fetus for whom the risks of postnatal @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$ are elevated.	false
+10988bf313cb781f5b998f80d0604342db04c929	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	has_symptom
+0233993280beb9c776bdfba98307f46308d1349b	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+5aac731c41de85d32407c34a3c8d14ecac4b455f	Maternal phenylketonuria (PKU) is associated with significant complications such as mental retardation, @DISEASE$ and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	false
+76a8e1323e81e27ea0116d978c5a29bb92f3d181	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	false
+6c7ed7db4a302d4831161e1d4a2c44cbc3b23b7e	@DISEASE$ (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+1bd06a227e7607a8294e8de38a9cf5161e562582	Maternal phenylketonuria (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart defects in nonphenylketonuric offspring.	false
+44d08f432f2dfe52f97fc7e6efb75241c00f2909	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	false
+80ef5fb0277943692cb6399fad1e9f6780aa0aed	@DISEASE$ syndrome: congenital heart defects, @PHENOTYPICFEATURE$, and developmental outcomes.	has_symptom
+2896311f74694dcb43d18516006d6cfbc5613148	Maternal phenylketonuria @DISEASE$: @PHENOTYPICFEATURE$, microcephaly, and developmental outcomes.	false
+7b277427bdde7b67b85a1c69ecda2c0a145c367a	@DISEASE$ syndrome: @PHENOTYPICFEATURE$, microcephaly, and developmental outcomes.	false
+01e17c95b539cb14b48802819b9086b277d9ad55	Maternal phenylketonuria syndrome: @PHENOTYPICFEATURE$, @DISEASE$, and developmental outcomes.	false
+abbe9122400984c8402ffdc837177d7840f41e41	The disease was characterized by rapid progression of sore throat, @DISEASE$ dysphagia, @PHENOTYPICFEATURE$ and dyspnea.	has_symptom
+0826ba9cf7215eaae96f09f973b1a18a66058ba8	A 38-year-old HIV-positive patient presented with right @DISEASE$ abdominal pain, @PHENOTYPICFEATURE$ and jaundice.	has_symptom
+efe6029e4b8813d9d6450f5d2908060d18484e17	A 38-year-old HIV-positive patient presented with right upper @PHENOTYPICFEATURE$, @DISEASE$ and jaundice.	false
+7b7946ddf3ae3431e819e2e8ac658d06786582fa	A 38-year-old HIV-positive patient presented with right @DISEASE$ @PHENOTYPICFEATURE$, fever and jaundice.	false
+df19be3730a02af92035a717440b68b5ed4b2b22	Clinical features consisted of @DISEASE$ abdominal pain, jaundice, @PHENOTYPICFEATURE$, anorexia, and vomiting.	has_symptom
+6856b18239802e920a69be8751e217515262c28c	Clinical features consisted of @DISEASE$ abdominal pain, jaundice, fever, anorexia, and @PHENOTYPICFEATURE$.	false
+ee16b7410358ec2877c30caa7cb848d8da445a0d	Clinical features consisted of upper abdominal pain, jaundice, @DISEASE$, anorexia, and @PHENOTYPICFEATURE$.	false
+b059519df3c000ba7d38bda3144286b27edd54f0	Recurrent @DISEASE$ respiratory infection and pneumonia with @PHENOTYPICFEATURE$ were seen in all the patients.	has_symptom
+87061a89a17f7c6866b984ec50d3f553a2419c23	We report a case of a 65 years old male who presented with @PHENOTYPICFEATURE$ and @DISEASE$ abdominal tenderness.	has_symptom
+a31f796b4c3043f218464f1394a75f88e8583acd	typical presentation is severe sore throat, with @DISEASE$ dysphagia, @PHENOTYPICFEATURE$ and dyspnea.--Clinical	has_symptom
+c182f7a8deb10aea74c0fb3d08b934e5fb316a81	Sudden onset of severe @DISEASE$ abdominal pain, @PHENOTYPICFEATURE$, and hypertriglyceridemia were the common presentations.	has_symptom
+03bcaca0f90c21a88715cf0cf2035f621bfa644f	A 47-year-old Angolan complained of @DISEASE$ abdominal pain, @PHENOTYPICFEATURE$, weight loss and night sweats.	has_symptom
+cd1af178b0e680fa7fc9412a9beef7d4b55860fc	A 47-year-old Angolan complained of @DISEASE$ @PHENOTYPICFEATURE$, fever, weight loss and night sweats.	false
+1a31eb73105440e3ce55d95759327c93224da5ad	A 47-year-old Angolan complained of upper @PHENOTYPICFEATURE$, @DISEASE$, weight loss and night sweats.	false
+b41fe8950a880d2db1ecc2b7d98c4e0238decd0e	Rapidly progressive uremia, @PHENOTYPICFEATURE$ and @DISEASE$ abdominal pain].	has_symptom
+b579841ba049abb35b334f256a921ff3e7e2061f	The patient presented with recurrent @DISEASE$ abdominal pain, @PHENOTYPICFEATURE$ and jaundice.	has_symptom
+d2b2126a0bd8dc086e83930342710ca86326101a	The patient presented with recurrent @DISEASE$ @PHENOTYPICFEATURE$, fever and jaundice.	false
+60566e72d41b9aa1063aa76aa734bffadfb43d25	The patient presented with recurrent upper @PHENOTYPICFEATURE$, @DISEASE$ and jaundice.	false
+4d484f5a061ad0fbdc8239c28e01c0b4c50ebbc5	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	has_symptom
+4ccc4d37bf5efc538d56d4dc889c9e093cf34d34	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+b869595aad89f4a4a70506d3cb8f2bb87ec22e2e	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, @DISEASE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+09d83999acf0a283061a1b3aeae3b6026ee6ca29	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, ptosis, @DISEASE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+90c83cbc4c43f011183413346bdab993d8ee24cf	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @DISEASE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+007513542784ced7e5250c9f13918ba09fc1d3d9	@DISEASE$ is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+d400965c51d3b63e62eb59c201d0036f07bc7ac7	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+b5357e453b017deaf54d9799f622c5be02698a33	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+ec0a454201f98c56c9485346ea92550c0f923cbb	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @DISEASE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+48457142f1268480c8513035a9364708111a5531	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+cee24179f93420062c6d27155d8b59a8be98648a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+58369aac7ac2d3a87a09737d689904d5340b8a74	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @DISEASE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+115c6150924a96b8944b457bbf3284c01363a2d7	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+44244caa593a09bc7e9a3a487547cdaf92d87e6f	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+38adc3b7017858492b842a589ec1d0643b765bc3	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+2a1c26d36b8fa3abe2a0fbaf47d8760891f3ef93	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+1a40b80af3fd04d8310534489371cd28c7666614	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+fc608b7b9f9d8740b5cf2050c1a0c18a14cf208c	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+571255a180b2f939b9b47dfb61d9028caac54428	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+2d5d3f19a0a49a11909892d2a369a2535f64be9f	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+e7a1f24c87c096c8cf2443e3c839737e0a72ec2a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+1c9406db302c4b469a585fba0e281d64aa497188	@DISEASE$ is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, @PHENOTYPICFEATURE$, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose.	has_symptom
+89533d1f19f7db62f7c5dd01307c061a7f903968	Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, @DISEASE$, epicanthal folds, blepharophimosis, @PHENOTYPICFEATURE$, and broadening of the bridge and tip of the nose.	false
+8ca4aa58854dbdfb04e53737fda609438c5101d1	Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, and broadening of the bridge and tip of the nose.	false
+3e85c43be4defc7abef8597294d86101f2348a8b	Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, @DISEASE$, telecanthus, epicanthal folds, blepharophimosis, @PHENOTYPICFEATURE$, and broadening of the bridge and tip of the nose.	false
+6f139bcef1251421fc7e2bb00a1298d52aa9ad07	@DISEASE$ is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, @PHENOTYPICFEATURE$, and broadening of the bridge and tip of the nose.	false
+31cfdd274594918e8e2580a948452e2d862e6901	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @PHENOTYPICFEATURE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	has_symptom
+5e1d8152c1f636fb7eb08337b4750b5c9b1f9b03	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+575a3103942da973329aba69d8243f6536b1d021	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+10f48848803a83d5757746720afd21cc7b8bac6e	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6514a0241b67d6e4689a49385c7113a992a8cb6d	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+f58f2c376cb9e2016af6ddaea30f087eb39208d1	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and @DISEASE$; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+7ec962552c2da08e8c156eff750cce2af96e1a24	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+d34af07447247c5a7be01384019b83bd71b28e88	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), fever (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @PHENOTYPICFEATURE$, one autoimmune hepatitis and one @DISEASE$.	has_symptom
+b0a178518c283de2166e4dbd563368dcad8b0f59	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one autoimmune hepatitis and one @DISEASE$.	false
+25e1b8dbc843d56b6f0dea5f4f1e7032df47d4a6	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one @DISEASE$ and one pyoderma gangrenosum.	false
+4184428a2afeb64285b96e7b4f3ef271800e681a	The basic signs of the disease involved chronic mucosal haemorrhagic @DISEASE$ which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 arthralgia, one autoimmune hepatitis and one pyoderma gangrenosum.	false
+d5ccac1917e5e285c7869ef9d904683a7e1ed7de	The basic signs of the disease involved chronic mucosal haemorrhagic diarrhoea which was confirmed in 16 of 17 patients, with body weight deficiency (10), recurrent abdominal pain (6), @PHENOTYPICFEATURE$ (5), slowed-down maturation (5), marked anorexia (4), and tenesmus (3).Two patients had recurrent aphthous stomatitis, 2 anal fissures, 2 @DISEASE$, one autoimmune hepatitis and one pyoderma gangrenosum.	false
+0ed5d99d1fde98f4627d40b830c1f08c9122e230	A thorough questionnaire was used reviewing the extraintestinal manifestations of Crohn's disease such as erythema nodosum, @DISEASE$, eye lesions, arthritis or @PHENOTYPICFEATURE$, sacroiliitis or inflammatory back pain, hepatic disease, hematologic manifestations (megaloblastic, iron deficiency or hemolytic anemia, thrombocytosis), thrombosis, and nephrolithiasis.	has_symptom
+b7140297fbad5115b3c4ff28c6c4cd3dca75eb54	A thorough questionnaire was used reviewing the extraintestinal manifestations of Crohn's disease such as erythema nodosum, pyoderma gangrenosum, eye lesions, @PHENOTYPICFEATURE$ or arthralgia, sacroiliitis or inflammatory back pain, @DISEASE$, hematologic manifestations (megaloblastic, iron deficiency or hemolytic anemia, thrombocytosis), thrombosis, and nephrolithiasis.	false
+fa7172b8253a9add6f18671f29f71d46cc5573ab	A thorough questionnaire was used reviewing the extraintestinal manifestations of Crohn's disease such as erythema nodosum, pyoderma gangrenosum, eye lesions, @PHENOTYPICFEATURE$ or @DISEASE$, sacroiliitis or inflammatory back pain, hepatic disease, hematologic manifestations (megaloblastic, iron deficiency or hemolytic anemia, thrombocytosis), thrombosis, and nephrolithiasis.	false
+0dd767a72d0b2354d8f69e2e52b94d9e3b6eaff6	A thorough questionnaire was used reviewing the extraintestinal manifestations of Crohn's disease such as erythema nodosum, pyoderma gangrenosum, eye lesions, @PHENOTYPICFEATURE$ or arthralgia, sacroiliitis or inflammatory back pain, hepatic disease, hematologic manifestations (megaloblastic, iron deficiency or hemolytic anemia, thrombocytosis), @DISEASE$, and nephrolithiasis.	false
+fbbc0bfa420a638d1e3e57dc9800e98e2ed1b4c4	A thorough questionnaire was used reviewing the extraintestinal manifestations of Crohn's disease such as erythema nodosum, pyoderma gangrenosum, eye lesions, @PHENOTYPICFEATURE$ or arthralgia, sacroiliitis or inflammatory back pain, hepatic disease, hematologic manifestations (megaloblastic, iron deficiency or @DISEASE$, thrombocytosis), thrombosis, and nephrolithiasis.	false
+4af876405edaec587defb97e497cbab541c32151	A thorough questionnaire was used reviewing the extraintestinal manifestations of Crohn's disease such as erythema nodosum, @DISEASE$, eye lesions, @PHENOTYPICFEATURE$ or arthralgia, sacroiliitis or inflammatory back pain, hepatic disease, hematologic manifestations (megaloblastic, iron deficiency or hemolytic anemia, thrombocytosis), thrombosis, and nephrolithiasis.	false
+2e85b217cdc4290b02d20610bc5f60e0654dc911	No significant differences were demonstrated between the two groups by the Fisher exact test with regard to fistulizing or perianal disease, oral aphthous ulcers, disease severity, axial or peripheral @PHENOTYPICFEATURE$, episcleritis, anterior uveitis, erythema nodosum, or @DISEASE$.	has_symptom
+4c236f513a3a9ca6b580dc5cc8c16b5697a7bcd9	@DISEASE$ is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital @PHENOTYPICFEATURE$, anteverted nares, and a prominent frontal region.	has_symptom
+ca10395508ac76f93876e9aae686864b2b0f2a84	Coffin-Lowry Syndrome is characterized by @PHENOTYPICFEATURE$, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital @DISEASE$, anteverted nares, and a prominent frontal region.	false
+0ca9a7fa51ced4e82d8baee7b07f4415aa7afcc0	Coffin-Lowry Syndrome is characterized by mental retardation, @PHENOTYPICFEATURE$, delayed bone development, short stature, tapered fingers, large ears, orbital @DISEASE$, anteverted nares, and a prominent frontal region.	false
+0e7f7cf9c3fdc04942ceac909c1383e64de0a923	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+0bbee253d25ed8d72a273df4aa4144a024300fbc	@DISEASE$ is characterized by mental retardation, skeletal abnormalities, delayed bone development, @PHENOTYPICFEATURE$, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+808eddcdec8829911bcb9930e5f59c2da75ab967	Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, @PHENOTYPICFEATURE$, tapered fingers, large ears, orbital @DISEASE$, anteverted nares, and a prominent frontal region.	false
+bec8dda12d59ee532ed4a779ecbd1b9f40e8b86a	@DISEASE$ is characterized by mental retardation, @PHENOTYPICFEATURE$, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted nares, and a prominent frontal region.	false
+4a2194d1c3f737a73768c7965794067b3f1cc621	A 6 year-old, and a 3 year-old boy both had distinct clinical features of @DISEASE$; severe mental and motor retardation, microcephaly, prominent forehead, @PHENOTYPICFEATURE$, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.	has_symptom
+5147a2e73b45bd78317ccd4d5084b935a9c1280a	A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, @PHENOTYPICFEATURE$, prominent forehead, @DISEASE$, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.	false
+20dae32cb190bd7aefcc4bfadf3b184da7eeb075	A 6 year-old, and a 3 year-old boy both had distinct clinical features of @DISEASE$; severe mental and motor retardation, @PHENOTYPICFEATURE$, prominent forehead, hypertelorism, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum.	false
+b73f6666730975bb77f749e7b27a40c82674cbec	Typical clinical features of the @DISEASE$ include facies with @PHENOTYPICFEATURE$, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	has_symptom
+6c28bc19ebcf265bfb77e1f74e5fe95dcd896163	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; @PHENOTYPICFEATURE$, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, @DISEASE$ and spinal disorders such as kyphosis and scoliosis.	false
+1749b763c10307c3b42ee2da593f5ad46534b443	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, @DISEASE$ and spinal disorders such as kyphosis and scoliosis.	false
+48f5f7e1c422409ea47506d94088661e8791e188	Typical clinical features of the Coffin-Lowry syndrome include facies with @DISEASE$, small nose, wide mouth, full and everted lips; @PHENOTYPICFEATURE$, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+58ee42535f9c5c8720f269378309d31a1a6246a9	Typical clinical features of the Coffin-Lowry syndrome include facies with @DISEASE$, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+88a4bbea926de71ecd9e1bf11b4b5cea8d8943a9	Typical clinical features of the Coffin-Lowry syndrome include facies with @DISEASE$, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+3de82df3ca17578e999bd4a28fb80884072373b3	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, @DISEASE$ and spinal disorders such as kyphosis and scoliosis.	false
+c4a858e770e2b23380201aeb697a4ad965c42023	Typical clinical features of the @DISEASE$ include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+f3b6730c4766a009aca3cac9a705414d1c6e6488	Typical clinical features of the @DISEASE$ include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+94db43bc7a27c27ec75181b7211cd69a167d691b	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, @PHENOTYPICFEATURE$, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and @DISEASE$.	false
+9e6cceee626ec7eb1922ec379734ddace862f28c	Typical clinical features of the @DISEASE$ include facies with hypertelorism, small nose, wide mouth, full and everted lips; @PHENOTYPICFEATURE$, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis.	false
+f7ff1735cc19d96d6722be3d2c2728a1b90c258d	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; @PHENOTYPICFEATURE$, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and @DISEASE$.	false
+6fccd62d9f43cd2be2e76e3276170e46b006a322	Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, @PHENOTYPICFEATURE$, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and @DISEASE$.	false
+cdd96bc2e8223447158e4c1545723bb90480b648	Family evaluation revealed that the father had heterochromidia irides and @PHENOTYPICFEATURE$ supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of @DISEASE$ (CLS).	has_symptom
+faa740a593934f11e8f3119764328c4d694d696f	Family evaluation revealed that the father had heterochromidia irides and @PHENOTYPICFEATURE$ supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (@DISEASE$).	has_symptom
+97c1250b57f18ae73c4893495f348eb016d5bb2e	Mutations of the ?3A subunit cause the @DISEASE$ (HPS-2), a rare genetic disease characterized by @PHENOTYPICFEATURE$, platelet defects, and recurrent infections.	has_symptom
+e4b2764c42937a105368f88708e4fcc6efb43567	Mutations of the ?3A subunit cause the Hermansky-Pudlak syndrome type 2 (@DISEASE$), a rare genetic disease characterized by @PHENOTYPICFEATURE$, platelet defects, and recurrent infections.	has_symptom
+7c38e0f70b3dd6b883f111460bcc34cd0eee0378	Patients with @DISEASE$ (HPS2) present with oculocutaneous @PHENOTYPICFEATURE$, nystagmus, prolonged bleeding time, and increased susceptibility to infections.	has_symptom
+227942b00e96451814e685018da6a79e80539c2a	@DISEASE$ (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous @PHENOTYPICFEATURE$ (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency.	has_symptom
+38ddff7a9be958c82f2e15ab42e8f5e92400074e	We evaluated a 32-year-old woman whose oculocutaneous @PHENOTYPICFEATURE$ (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of @DISEASE$. This was ruled out because of the presence of platelet ?-granules and absence of AP3B1 mutations.	has_symptom
+6ad53dafe67baee4953740e23bcbbd6bdd6ff1f3	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @PHENOTYPICFEATURE$, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	has_symptom
+b5e35785e12c5451802d390dcb55cfd3944ff7c1	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for @DISEASE$.	false
+12b3a137cca678b58b2c3500985c0ea104a6c16a	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild ventriculomegaly, suspicion of partial agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for @DISEASE$.	false
+e38bf8a6003cd6f4fa8749a3280e07660fb09465	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @DISEASE$, suspicion of partial agenesis of the corpus callosum, hypertelorism, and midfacial hypoplasia, with a depressed nasal bridge and @PHENOTYPICFEATURE$, prompting a suspicion for Apert syndrome.	false
+d9c85bc2d3f8d470eee11c683f5b35d28f2a7ef2	We detected irregular head shape, dolicocephaly, prominent forehead, bilateral mild @DISEASE$, suspicion of partial agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and midfacial hypoplasia, with a depressed nasal bridge and syndactyly, prompting a suspicion for Apert syndrome.	false
+3cd72fc064dd90cf9e81e90432fdbf9928f33a4e	Shunting is rarely required in @DISEASE$ patients, confirming a predominantly nonprogressive @PHENOTYPICFEATURE$.	has_symptom
+7d96079158e237d0722faed7bc5dfe5b7ec4c350	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	has_symptom
+ac2287249c17b4321ade40e140752e6cb9f727a3	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+911de3be62cae976c192be35e5cc0b7f7ce783ca	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+e644e64ab4b863980646a12b28470393bc17e5e5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow @DISEASE$, growth deficiency, and @PHENOTYPICFEATURE$.	false
+c34e1974962e6eee95a0930c9a15d57bb51d5d9a	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+465639f71dba67e13798411f25796be7358906cb	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+8d14e1e76261c4134c3285c2ba95e044003e7b88	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+a1a49447bb9fe965a311dcb8dc0044721c5425f5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow @DISEASE$, growth deficiency, and speech delay.	false
+577613fa9b5874868c95a79d83fb67ccd4b8dc60	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @DISEASE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+e71d2a7af619e9b3d2e1f6a4cab8390f322d7a27	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @DISEASE$, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+9686d01320903ecfee45764afb3696f2a8bda8bd	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @DISEASE$, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+9bcd24945a7e98bc0038a7ca7c13cf31f77c6249	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+94a944f84a04ed332d491d77170c1515c497499b	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow @DISEASE$, @PHENOTYPICFEATURE$, and speech delay.	false
+2cc1841e1049726a30c5281b2f74cd6e87490b2a	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, @PHENOTYPICFEATURE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	has_symptom
+51ece84b78f1d1fc5ca6f7596b910d3ae4fd89da	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+12d228ff6467bc3ff9aab041b39ef709a9fed20d	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	false
+2948ebe696f5b64e9cb17604a0c998e6ab5b868b	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3045d7fc30261126d27d3f2f79ce66f32abb21cc	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+e07bb0159517d857781824c6e9eea2ea206a4748	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, @DISEASE$, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+2018b06e99470a2c713ddcb4bc93e29ec011eb85	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+d73c85fb049170d5e773c0c1e5589882b6d8113c	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$.	false
+ce0e5fd66d4ec4f2aac2732d8fbeca429c703922	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+3cd5d1bd61f517cb5c6f80f20527c0b4878e0fde	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	false
+70264bf16f583937d3ef796f0b8423a0832977af	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, speech delay, macrocephaly, facial dysmorphism, and @DISEASE$.	false
+785d4c97d0fa1ad54fa1ec42fec73910a40d9637	The SETD2-related @DISEASE$ is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, @PHENOTYPICFEATURE$, facial dysmorphism, and autism spectrum disorders.	false
+6d93641a5edeba8f2acbae9378dd60e0362bb61e	The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of @PHENOTYPICFEATURE$, @DISEASE$, macrocephaly, facial dysmorphism, and autism spectrum disorders.	false
+5dbfe4aa30967c63d59da428d6a5316b50ccec81	Thirty-four patients with multiple @PHENOTYPICFEATURE$ and or cystic or encephalitic parenchymal lesions of @DISEASE$ were examined and questioned about subcutaneous nodules.	has_symptom
+2ff0c15edb251053cc124ab8d13f39a7cb3791e9	The diagnosis of cerebral @DISEASE$ was established by brain biopsy in 8 patients, at autopsy in 3, and by biopsy of a subcutaneous nodule in 7. It was presumed on the basis of typical @PHENOTYPICFEATURE$ in 1 case and soft tissue calcification in another.	has_symptom
+87c4aa64dfe1ee8849f10fdcd749c9dfe91094ba	Nodular @PHENOTYPICFEATURE$ (NIC) are frequent findings in CT scans of epileptic patients in countries where granulomatous central nervous disease such as @DISEASE$ is endemic.	has_symptom
+0ab28599007d187d9ec9f9a5b4524dffcbda5145	Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly and broad thumbs, consistent with @DISEASE$ are described in a family of four affected females over three generations.	has_symptom
+fa430efb09977fbc9f0159492197b93524c989cb	Coronal @DISEASE$, @PHENOTYPICFEATURE$, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+aa8acecfe5f90c18648d3eeaa54b5cbd449e40ac	Coronal @DISEASE$, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$ and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+2a685e780d8470bb39645c0bb9aafe30744c1e1b	Coronal craniosynostosis, @PHENOTYPICFEATURE$, telecanthus, broad grooved nasal tip, @DISEASE$, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+82d70e7e80aa5f03a6fd356ec3c6ae7b2676651e	Coronal craniosynostosis, @PHENOTYPICFEATURE$, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with @DISEASE$ are described in a family of four affected females over three generations.	false
+f604f64bc15ba8984a35b4c2bf4cce3c0beefb90	Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$ and broad thumbs, consistent with @DISEASE$ are described in a family of four affected females over three generations.	false
+e391a9ec24490ebde2ba865563aef1c730f4e69e	Coronal craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+0fe57d16c4007ed21a33563a33aa8b6fe3a24363	Coronal craniosynostosis, hypertelorism, @DISEASE$, broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$ and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+f927149b716bf0267f07b3a9bdd96d5c35b32ba0	Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, @DISEASE$, mild @PHENOTYPICFEATURE$ and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+6638bb2ac57ef9a845e05057d5d44cbfacd82929	@DISEASE$ is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly, and broad thumbs.	has_symptom
+644d6c9312e774f7817bf20fc3ecff5e405c8622	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, @PHENOTYPICFEATURE$, telecanthus, a broad grooved nasal tip, @DISEASE$, mild syndactyly, and broad thumbs.	false
+9a95219c82d2b081796950513e873a7d9476ec5b	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs.	false
+62b50b682e4b6eeacf1eefc790651648c31ae9d2	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, @DISEASE$, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+d33bc216b9081109991456404dbd33f845630407	@DISEASE$ is characterized by coronal craniosynostosis, @PHENOTYPICFEATURE$, telecanthus, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs.	false
+2b7a51e05bef0c5f1b0a1c13640006dd308d6e16	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, @DISEASE$, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+296438d50d3c5c7b8c2ac25978b47901b0a238d9	@DISEASE$ is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+a8e16136d449b69fb14f3cd2b0d2bf279f023a28	Craniofrontonasal syndrome is characterized by coronal @DISEASE$, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+7be6b912ccf23329e5d151b613476083db21371d	Craniofrontonasal syndrome is characterized by coronal @DISEASE$, @PHENOTYPICFEATURE$, telecanthus, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs.	false
+55b5bdd473fe1c694d1d438ecf9d1a4d40ba548e	Neurological involvement was recorded in 71.4% (10/14) of the patients [100% (10/10) in @DISEASE$ and null (0/4) in cases with isolated skin manifestations] and included psychomotor delay (n=8), @PHENOTYPICFEATURE$ (n=9), EEG abnormalities (n=6), a behavioural phenotype (n=4), non-specific brain abnormalities (n=6).	has_symptom
+c904d481a543fb1714945ba596bcff670bc01fa4	Ramsay Hunt syndrome (@DISEASE$) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, grand mal seizure and severe @PHENOTYPICFEATURE$.	has_symptom
+7e615290502d6309e5cb8dd7d4ddebefc4d64b45	Ramsay Hunt syndrome (RHS) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, @PHENOTYPICFEATURE$ and severe @DISEASE$.	false
+5001d0d839b71ce32df9c30511cbee2a031f56ef	@DISEASE$ (RHS) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, @PHENOTYPICFEATURE$ and severe cerebellar ataxia.	false
+874181bab0c317e902759a2e6d69f0f82e93b625	Ramsay Hunt syndrome (@DISEASE$) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, @PHENOTYPICFEATURE$ and severe cerebellar ataxia.	false
+a66dcd57e928745b9dcdcc5669e3098a23c76e69	Ramsay Hunt syndrome (RHS) is a rare condition within the @DISEASE$ syndrome (PME), with a triad of action myoclonus, @PHENOTYPICFEATURE$ and severe cerebellar ataxia.	false
+73a55b1dbcc25b5a5d180defd9f650296186b0ad	In addition, @DISEASE$ has specific features, namely @PHENOTYPICFEATURE$ and chorioretinopathy.	has_symptom
+4c95d458d9d29979249d08b9d97e70234c3e039b	Chronic neurologic presentation was rare, except in @DISEASE$ (retinitis pigmentosa and @PHENOTYPICFEATURE$).	has_symptom
+d3ed75cc885f045a3f9a36790b269b6030aac4fa	The morphological changes may be macroscopic, such as developmental abnormalities of the brain in @DISEASE$, including ectopic inferior olives and the @PHENOTYPICFEATURE$ and pyramids.	has_symptom
+73fad1912caee0c9dd259a297fa257711e5e343c	The morphological changes may be macroscopic, such as developmental @PHENOTYPICFEATURE$ in @DISEASE$, including ectopic inferior olives and the absence of corpus callosum and pyramids.	false
+659c4168462661dc502702f90382f0831ab52aa4	The morphological changes may be macroscopic, such as developmental @PHENOTYPICFEATURE$ in pyruvate dehydrogenase deficiency, including ectopic inferior olives and the @DISEASE$ and pyramids.	false
+574fdb660142835d20ddac8b1374ac914a3c3df5	In females with a @DISEASE$ E1alpha owing to the mutation in the subunit E1alpha of the pyruvate dehydrogenase complex West's syndrome associated with large ventricles and @PHENOTYPICFEATURE$ on magnetic resonance imaging can be the main feature of the disease.	has_symptom
+dcca633917769650f3d701a19258e925cc12478d	Furthermore, alcohol-induced central nervous system insult results in midline anomalies such as @PHENOTYPICFEATURE$, which has also been described in several metabolic diseases, including @DISEASE$ deficiency.	has_symptom
+ee12085769c6bbdd262b132a564d012cff3947cf	@DISEASE$ (WHS) is characterized by @PHENOTYPICFEATURE$, developmental delay, hypotonia, seizures, feeding difficulties, and characteristic facial features.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+57f6e3bf3448ae583eb5d91c7c67e5cdc095bde5	@DISEASE$ (WHS) is a genetic syndrome that includes a typical facial appearance, mental @PHENOTYPICFEATURE$ delay, seizures, and congenital cardiac defects.	has_symptom
+88fcc99d78a372f2f3c9389fc68c4afcb4c3b222	Wolf-Hirschhorn Syndrome (WHS) is a genetic @DISEASE$ that includes a typical facial appearance, mental retardation, growth delay, @PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+abcb40a47246f9f657ad57dab3bb61f4a0693598	@DISEASE$ (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, @PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+59bf1aaabc01d7f9c84b8cc44757105fcbd385bf	Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental @DISEASE$ delay, @PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+6c9810caf4923a899d6190719ad7fe1ea03377f5	@DISEASE$ (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe @PHENOTYPICFEATURE$.	has_symptom
+d52a126c542189b700febb8a9c6d2b230ec7895e	He had mild psychomotor retardation and multiple minor anomalies, without @PHENOTYPICFEATURE$ or microcephaly, which differs from the classical 4p--syndrome (@DISEASE$).	has_symptom
+5e7a10e7c8579287fcbf6f0a61510a0767549dc5	He had mild psychomotor retardation and multiple minor anomalies, without @DISEASE$ or @PHENOTYPICFEATURE$, which differs from the classical 4p--syndrome (Wolf-Hirschhorn syndrome).	false
+eba67c6d2f9fa08ffe291bf0e1676d13b31b9000	He had mild psychomotor retardation and multiple minor anomalies, without growth retardation or @PHENOTYPICFEATURE$, which differs from the classical 4p--syndrome (@DISEASE$).	false
+dd122ed2e45f25a035ee651a24100db1fe3a88df	@DISEASE$ (WHS), associated with a deletion of chromosome 4p, is characterized by mental and @PHENOTYPICFEATURE$ and typical facial dysmorphism.	has_symptom
+fe2c202c68e714c59b0f4747d2e92a27692c7942	Wolf-Hirschhorn syndrome (WHS), associated with a deletion of chromosome 4p, is characterized by mental and @DISEASE$ and typical @PHENOTYPICFEATURE$.	false
+b8f95b9189864c2cc9981aaa851f52859535ea59	@DISEASE$ (WHS), associated with a deletion of chromosome 4p, is characterized by mental and growth retardation and typical @PHENOTYPICFEATURE$.	false
+615a4d87a30c30286c7ba7568bebd8c8e6a78a45	Postnatal growth records of 13 patients with @DISEASE$ indicate that the syndrome is associated with continuing severe @PHENOTYPICFEATURE$ and marked microcephaly.	has_symptom
+ef70a500e895d85c0804d24b02a03390cf3c6bd2	Postnatal growth records of 13 patients with Wolf-Hirschhorn syndrome indicate that the syndrome is associated with continuing severe @DISEASE$ and marked @PHENOTYPICFEATURE$.	false
+e593453efa9b7201cc5fe3e4ea3208e80e4463ff	Postnatal growth records of 13 patients with @DISEASE$ indicate that the syndrome is associated with continuing severe growth retardation and marked @PHENOTYPICFEATURE$.	false
+681bc4e405887b9990bb2e2597ce054d4bde4af4	@DISEASE$ (WHS) is defined by a collection of core characteristics, which include mental retardation, epilepsy, @PHENOTYPICFEATURE$ and cranio-facial dysgenesis.	has_symptom
+c15e6fe8fdc256beb588beaef94c4c4e8f57d699	Wolf-Hirschhorn syndrome (WHS) is defined by a collection of core characteristics, which include @PHENOTYPICFEATURE$, epilepsy, growth delay and cranio-@DISEASE$ dysgenesis.	false
+03ab17ab3282590705157bc843d1efc4f82fc1e7	@DISEASE$ (WHS) is defined by a collection of core characteristics, which include @PHENOTYPICFEATURE$, epilepsy, growth delay and cranio-facial dysgenesis.	false
+9bdefbce51774dd43d7e7d34d58397add3efcf38	Wolf-Hirschhorn syndrome (WHS) is defined by a collection of core characteristics, which include @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and cranio-facial dysgenesis.	false
+f6dd213fc08437aae3de6d007e3a4e98ee7965ab	@DISEASE$ is defined by a collection of core characteristics that include mental retardation, epilepsy, @PHENOTYPICFEATURE$, and craniofacial dysgenesis.	has_symptom
+1a7c6b32c442d48f6277af5ea307aa5deca43554	@DISEASE$ is defined by a collection of core characteristics that include @PHENOTYPICFEATURE$, epilepsy, growth delay, and craniofacial dysgenesis.	false
+60711946aeaf7991fbcac625f73583522148555a	Wolf-Hirschhorn syndrome is defined by a collection of core characteristics that include @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, and craniofacial dysgenesis.	false
+3d4efebb5c963cb4dcede8dc11f3fae727821f59	The @DISEASE$ (WHS) or 4p-deletion syndrome is characterized by mental @PHENOTYPICFEATURE$ retardation, microcephaly and typical facial features.	has_symptom
+51b2d745182c3e63566033af0f50389a3ea1ed26	The Wolf-Hirschhorn Syndrome (WHS) or @DISEASE$ is characterized by mental @PHENOTYPICFEATURE$ retardation, microcephaly and typical facial features.	has_symptom
+63dbecf76da523ee6c77291db0bb3c3db130f1d5	The Wolf-Hirschhorn Syndrome (WHS) or 4p-deletion syndrome is characterized by mental @DISEASE$ retardation, @PHENOTYPICFEATURE$ and typical facial features.	false
+dc55431939d1450e8fe78271a4c8a0fa2782629a	The @DISEASE$ (WHS) or 4p-deletion syndrome is characterized by mental retardation, growth retardation, @PHENOTYPICFEATURE$ and typical facial features.	false
+1fe2606a551afc8ec7cb542d4eab6223e0461957	The Wolf-Hirschhorn Syndrome (WHS) or @DISEASE$ is characterized by mental retardation, growth retardation, @PHENOTYPICFEATURE$ and typical facial features.	false
+581a9a90ea4b204830cd66ed19877d95ad6c04be	The methods of @PHENOTYPICFEATURE$ response dog (@DISEASE$) training programs are unstudied.	has_symptom
+e3ff62139e8a3935d5943b15bd61f43927433d26	Segregation ratio distortion (@DISEASE$) with preferential transmission of expanded CAG alleles has been reported in Machado-Joseph disease (MJD/SCA3), spinocerebellar @PHENOTYPICFEATURE$ type I (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA).	has_symptom
+0d94f3c0e5c6e39bd4105dabed02d868d317f9af	@DISEASE$ (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and @PHENOTYPICFEATURE$.	has_symptom
+ecf0547cacd42af01525e3dbecc955c21c47b510	Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, @PHENOTYPICFEATURE$, dysplastic ears, choanal atresia, and @DISEASE$.	false
+2b61534dcfe66b3e9313f393d3a64e105f284ef8	@DISEASE$ (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, @PHENOTYPICFEATURE$, dysplastic ears, choanal atresia, and short stature.	false
+7cfe4d923e53ee67d8fcb04b843c7f0ccafddde3	[Adefovir dipivoxil-induced @DISEASE$ and hypophosphatemic osteomalacia associated with @PHENOTYPICFEATURE$ in a patient with chronic hepatitis B].	has_symptom
+246e18c739b0622815230368c56637ec57023d2d	@DISEASE$ (USH3), characterized by progressive deafness, variable balance disorder and @PHENOTYPICFEATURE$, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein.	has_symptom
+9d9da9d53f7c650cc1508d4f2c745edc63b2ffe4	Usher syndrome type III (USH3), characterized by progressive @PHENOTYPICFEATURE$, variable balance disorder and @DISEASE$, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein.	false
+47dcfb20193d93a09aaf6d9fd1c322f437c259dc	@DISEASE$ (USH3), characterized by progressive @PHENOTYPICFEATURE$, variable balance disorder and blindness, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein.	false
+915d9b50428fb8149b067985459721482da7a7f3	Mutations in whirlin cause either @DISEASE$ (USH2), a deafness-@PHENOTYPICFEATURE$ disorder, or nonsyndromic deafness.	has_symptom
+06daf53647bc7047fe8e18fe2eeb000cbb003b77	Mutations in whirlin cause either @DISEASE$ (USH2), a deafness-blindness disorder, or nonsyndromic @PHENOTYPICFEATURE$.	false
+f2d829cd5fc0ce27121ebad3389f09ed18c719fc	Mutations in whirlin cause either @DISEASE$ (USH2), a @PHENOTYPICFEATURE$-blindness disorder, or nonsyndromic deafness.	false
+d999f3f2a88965ac015d705f2f8228efa16ce6f2	Mutations in whirlin cause either Usher syndrome type II (USH2), a @PHENOTYPICFEATURE$-@DISEASE$ disorder, or nonsyndromic deafness.	false
+ed93b49edda259ed763dbd3b509bd4892921eb3a	Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-@DISEASE$ disorder, or nonsyndromic @PHENOTYPICFEATURE$.	false
+d5ac9e2b359a8b798a7320086e91212da366df4e	@PHENOTYPICFEATURE$ and dysphagia are known to occur in parkinsonian syndromes such as Parkinson disease (PD), dementia with Lewy bodies (DLB), corticobasal degeneration (CBD), @DISEASE$ (MSA), and progressive supranuclear palsy (PSP).	has_symptom
+1852b101457c7c007fbd471753ec3d6f8c4fc593	A mixed type of @PHENOTYPICFEATURE$ involving hypokinetic, ataxic and spastic components was found in the majority of @DISEASE$ patients independent of phenotype.	has_symptom
+b07ac8ca06ccfda0bf9964bef71eaeb2dca69da1	A mixed type of dysarthria involving hypokinetic, @PHENOTYPICFEATURE$ and spastic components was found in the majority of @DISEASE$ patients independent of phenotype.	false
+1379ebbb1761681f609cdd133b0a6e66b1b78d8b	A mixed type of @DISEASE$ involving hypokinetic, @PHENOTYPICFEATURE$ and spastic components was found in the majority of MSA patients independent of phenotype.	false
+897777bfe2ad35f52f2557a0a8374c826158783f	Main features of the @DISEASE$ are @PHENOTYPICFEATURE$, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.	has_symptom
+c7b152b2b469e3e54dc9445f288f7973d230237d	Main features of the Marden-Walker syndrome are @DISEASE$, marked motor and @PHENOTYPICFEATURE$, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.	false
+894177cf4040949e954f289417548f648837540a	Main features of the @DISEASE$ are failure to thrive, marked motor and @PHENOTYPICFEATURE$, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly.	false
+c2f6fb0784e8c7eac12cf84a15bdbc9c9c2d6383	The @DISEASE$ is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, @PHENOTYPICFEATURE$ and psychomotor retardation.	has_symptom
+e47b3e72ff987ec206f2b145d66846f1ccea1780	The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, cleft or high-arched @DISEASE$, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation.	false
+c1aca9dad5bb1a0dfc477c996285ef25b0819613	The @DISEASE$ is characterized by a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation.	false
+8086e384cc485781a465f65964c4a35af6c9c23d	The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, @DISEASE$ and psychomotor retardation.	false
+74c7971d6e9efdd09f43af4b1e03534fe65cb38b	Hereditary @DISEASE$ manifests as neurological disturbance and @PHENOTYPICFEATURE$, features not observed in other amino acidemias.	has_symptom
+f7d4651dac675e0360b59bc25006f5acc8018746	Patients deficient in this enzyme exhibit @DISEASE$ with episodic hyperammonemia and long-term effects of @PHENOTYPICFEATURE$ and spasticity.	has_symptom
+df87e6c150f1ce5b4b017fd04f5eb33403c5944a	Patients deficient in this enzyme exhibit hyperargininemia with episodic hyperammonemia and long-term effects of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+358c86e902cbfacd7b8cfbcc0f9a9cfbe9c8d3d8	Patients deficient in this enzyme exhibit @DISEASE$ with episodic hyperammonemia and long-term effects of mental retardation and @PHENOTYPICFEATURE$.	false
+962e8f430946e221bc0c33794fc1011693b05a97	Arginase 1 deficiency is a urea cycle disorder associated with @DISEASE$, spastic diplegia, loss of ambulation, @PHENOTYPICFEATURE$, and seizures.	has_symptom
+03d868de7b33ce70d2f20316130077d8231cdc99	Arginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, @DISEASE$, loss of ambulation, intellectual disability, and @PHENOTYPICFEATURE$.	false
+d32c12c45a726f35600a1c43a67bc8898db40da4	Arginase 1 deficiency is a @DISEASE$ associated with hyperargininemia, spastic diplegia, loss of ambulation, intellectual disability, and @PHENOTYPICFEATURE$.	false
+a26d9fb3c7d07a12ec32f1c665216994c28b8c45	Arginase 1 deficiency is a urea cycle disorder associated with @DISEASE$, spastic diplegia, loss of ambulation, intellectual disability, and @PHENOTYPICFEATURE$.	false
+59390042b05e92f17faaae6397191e48b4289de0	Arginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, spastic diplegia, loss of ambulation, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+56eccfb8f500cf575509c2b93281f0f18b8edabc	@DISEASE$ is an urea cycle disorder that generally presents with @PHENOTYPICFEATURE$ and spasticity, yet uncommonly with episodes of hyperammonemia.	has_symptom
+2f3d6fbb91837a279c2fb49ed7d19f25a70b58b9	@DISEASE$ is an urea cycle disorder that generally presents with mental retardation and @PHENOTYPICFEATURE$, yet uncommonly with episodes of hyperammonemia.	false
+39a02d2ac37ff8adac1a03026a7d39606cce9c20	Arginase deficiency is an urea cycle disorder that generally presents with @DISEASE$ and @PHENOTYPICFEATURE$, yet uncommonly with episodes of hyperammonemia.	false
+df4a9789072f2ce0b8651b542d39b278d56dfd26	Arginase deficiency is an @DISEASE$ that generally presents with mental retardation and @PHENOTYPICFEATURE$, yet uncommonly with episodes of hyperammonemia.	false
+a2ad68690135e41bd8aec96c4a7866e9c56fd1b9	When @DISEASE$ was found at the ages of 4 to 12 years, four of patients had @PHENOTYPICFEATURE$, and three had seizures.	has_symptom
+b28c043875abbded452a7f0bf01d80e272df2323	When @DISEASE$ was found at the ages of 4 to 12 years, four of patients had mental retardation, and three had @PHENOTYPICFEATURE$.	false
+17baf30aaa0f1a3660b8407529b78a793e320913	When argininemia was found at the ages of 4 to 12 years, four of patients had @DISEASE$, and three had @PHENOTYPICFEATURE$.	false
+0cd44c15fb99aeb216b3d8954c6b5ce0ec3c512f	A French-Canadian family, with a 14-year old @PHENOTYPICFEATURE$ girl, was investigated for @DISEASE$.	has_symptom
+e1e37779b798babe6432b219ba3af3f0d0aaf642	@PHENOTYPICFEATURE$ and other neurological features are common symptoms in @DISEASE$ patients.	has_symptom
+f1669140f9ccbd397f92e012b58811d0b7841bec	Clinical features of @DISEASE$ include elevated plasma arginine levels, spastic diplegia, @PHENOTYPICFEATURE$, seizures and growth deficiency.	has_symptom
+d12b524588353030977c62474112462dca8471c8	Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, @DISEASE$, @PHENOTYPICFEATURE$ and growth deficiency.	false
+09debbb50ccccefe8ef79697783e3cd402a6c483	Clinical features of @DISEASE$ include elevated plasma arginine levels, spastic diplegia, intellectual disability, @PHENOTYPICFEATURE$ and growth deficiency.	false
+e1e37779b798babe6432b219ba3af3f0d0aaf642	@PHENOTYPICFEATURE$ and other neurological features are common symptoms in @DISEASE$ patients.	has_symptom
+0f66d80d165195d4a89a536616478a079a5b3cc2	A 5 9/12-year-old Mexican female with @DISEASE$ presented at 4 years of age with severe growth retardation, microcephaly, @PHENOTYPICFEATURE$, loss of ability to walk, spasticity and epileptiform electroencephalogram.	has_symptom
+6de5cdcda1ee43fa7ba50d0a51448c302e34e06e	A 5 9/12-year-old Mexican female with @DISEASE$ presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, @PHENOTYPICFEATURE$ and epileptiform electroencephalogram.	false
+0c906e351ca6ef34a9aaac2916f7880f3e7a3a8e	A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, loss of ability to walk, spasticity and epileptiform electroencephalogram.	false
+73fdb5f405b7aed31a8fba70cd236b8f37ab973d	A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, loss of ability to walk, spasticity and epileptiform electroencephalogram.	false
+a1c68bb88166356a4aa6ea369a503c7a187e3ea1	A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, @DISEASE$, loss of ability to walk, @PHENOTYPICFEATURE$ and epileptiform electroencephalogram.	false
+f89666a05250042b7ab6e087a4c355a168428f55	A 5 9/12-year-old Mexican female with @DISEASE$ presented at 4 years of age with severe @PHENOTYPICFEATURE$, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram.	false
+c86e2a6a5c3be3d7124c269d40bd16024888d633	A 5 9/12-year-old Mexican female with @DISEASE$ presented at 4 years of age with severe growth retardation, @PHENOTYPICFEATURE$, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram.	false
+f66221ee7486f079276097750dcd8649fdf5dc91	When comparing these indices for participants with @PHENOTYPICFEATURE$ versus none for all 5 tests, the ICCs were lower and the SRD and @DISEASE$ percentage were higher for the spasticity group.	has_symptom
+f8cc5e83aa9c66d12c1d049aa8975ba3682b7744	When comparing these indices for participants with @PHENOTYPICFEATURE$ versus none for all 5 tests, the ICCs were lower and the @DISEASE$ and SRD percentage were higher for the spasticity group.	has_symptom
+caaca921549e5779dfc0bf2f597d0d9b274a0d1e	@PHENOTYPICFEATURE$ in Women with @DISEASE$: Mechanisms and Management.	has_symptom
+d41364de901fe3de0361702d24b6f6161a82bc8c	Seven factors were found to be significantly more common among the patients with idiopathic retardation than in the genetic control group: a history of maternal reproductive inefficiency; bleeding during @DISEASE$ during pregnancy; signs of perinatal stress; neonatal anoxia; neonatal jaundice; and @PHENOTYPICFEATURE$ during the first year of life.	has_symptom
+fa6d3a0cbd1b01abff6074c671dd6c4cae758440	@DISEASE$ is a disorder of gestation characterized by hypertension and proteinuria and can be complicated by eclamptic @PHENOTYPICFEATURE$.	has_symptom
+be50bebcfc67ef0f779df3617cc4cfa891322034	@DISEASE$ is frequently treated with the intravenous infusion of magnesium sulphate, which is well known to control @PHENOTYPICFEATURE$ in the eclamptic patient.	has_symptom
+e79846fc12498405bbe2488bdd9d6c3aa75d321f	Magnetic resonance imaging has allowed us to identify posterior encephalopathy, characterized by headache, @PHENOTYPICFEATURE$, visual disturbances and hypertension, as a frequent complication of @DISEASE$ syndrome in the perinatal and postpartum period.	has_symptom
+0b11b069785bc8c7c59fa710f6a62cef9b8bf861	Magnetic resonance imaging has allowed us to identify posterior @PHENOTYPICFEATURE$, characterized by headache, seizures, visual disturbances and hypertension, as a frequent complication of preeclampsia/eclampsia @DISEASE$ in the perinatal and postpartum period.	false
+d8f93ab8b68d042e8196185c580ad415da3f0b84	Magnetic resonance imaging has allowed us to identify posterior @PHENOTYPICFEATURE$, characterized by headache, @DISEASE$, visual disturbances and hypertension, as a frequent complication of preeclampsia/eclampsia syndrome in the perinatal and postpartum period.	false
+390855da4648e76f0f96b2683402e79f35e14bfe	Magnetic resonance imaging has allowed us to identify posterior @PHENOTYPICFEATURE$, characterized by headache, seizures, visual disturbances and hypertension, as a frequent complication of @DISEASE$ syndrome in the perinatal and postpartum period.	false
+cb61823f769f32ef15cf55c855ccdbe661812650	@DISEASE$ patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, @PHENOTYPICFEATURE$ or malignant lymphoma.	has_symptom
+c45baf46fdc5365a484f391195136cde15fb4dac	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, @PHENOTYPICFEATURE$, and psychiatric conditions.	has_symptom
+38aa85936f518f5ed53dbbb1cd258ca952e624da	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, @PHENOTYPICFEATURE$, autism, and psychiatric conditions.	false
+f9591f23157d0694d0953f3f5800987569fccee0	The @DISEASE$ (OMIM #612001) is characterized by a wide range of phenotypic features, including @PHENOTYPICFEATURE$, seizures, autism, and psychiatric conditions.	false
+a11b858698b3f4fe5ff00c6e5e6ab77b49c191fc	The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including @PHENOTYPICFEATURE$, seizures, @DISEASE$, and psychiatric conditions.	false
+75c182a5961e406e5063153193f1f2c9f53dea4f	The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, and psychiatric conditions.	false
+aff0cd936f61b266a58a0a1b70a9e53c43f44b09	The authors report the case of a 12-year-old girl with @DISEASE$, long-standing refractory, symptomatic epilepsy, @PHENOTYPICFEATURE$, and panhypopituitarism in whom two rare, deep midline lesions were detected.	has_symptom
+0d38dba136312f6d891b1c6885dd0d6aa96973f4	Here, we describe a family with two affected children manifesting severe @DISEASE$ with @PHENOTYPICFEATURE$, behavioral problems, and intractable seizures.	has_symptom
+7422cfa733e55d537ff2b9a8b6fc066674637fce	Here, we describe a family with two affected children manifesting severe @DISEASE$ with mental retardation, behavioral problems, and intractable @PHENOTYPICFEATURE$.	false
+2d3c6bdda47e623cc38cb423d406c1f2316ac044	Here, we describe a family with two affected children manifesting severe PHS with @DISEASE$, behavioral problems, and intractable @PHENOTYPICFEATURE$.	false
+f750681a394258b52c355cb63d325e703e0d2c13	Pitt-Hopkins syndrome (@DISEASE$) is a probably underdiagnosed, syndromic @PHENOTYPICFEATURE$ disorder, marked by hyperventilation episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	has_symptom
+0bf303b35afad37404ff7d27264d6c0d1cb19b0d	Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, @DISEASE$ mental retardation disorder, marked by @PHENOTYPICFEATURE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+de6ed759ade6c343c2a3b4f4aa0cadd3cf7b2b66	@DISEASE$ (PHS) is a probably underdiagnosed, syndromic mental retardation disorder, marked by @PHENOTYPICFEATURE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+209899b691d16d760460c351bc09f5a853910075	Pitt-Hopkins syndrome (@DISEASE$) is a probably underdiagnosed, syndromic mental retardation disorder, marked by @PHENOTYPICFEATURE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+0efa5158c102130bf757507d6aba9a5732986924	Pitt-Hopkins syndrome (PHS) is a probably underdiagnosed, syndromic @DISEASE$ disorder, marked by @PHENOTYPICFEATURE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+a53411c66e5dbf245cfef8b18ecdc0670151e311	Pitt-Hopkins syndrome (@DISEASE$) is a rare syndromic mental disorder, which is mainly characterized by severe motor and @PHENOTYPICFEATURE$ including absent language development, a characteristic facial gestalt and episodes of hyperventilation.	has_symptom
+e4af1f40191a23d941d3291619626e09595deae9	Pitt-Hopkins syndrome (PHS) is a rare @DISEASE$ mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	false
+579721604d6643c0784279c8197dc4cc9473f8c4	Pitt-Hopkins syndrome (@DISEASE$) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	false
+2d10476668f9114905d0130e093718f7554f2b99	@DISEASE$ (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	false
+daeb8742dfe46d4ec02f371ea934022955b9791e	Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and @DISEASE$ including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	false
+6bbb5bd9c19f0a30d32be45249300146e9151204	Pitt-Hopkins syndrome (PHS) is a rare syndromic @DISEASE$, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	false
+f6e204edc3ac5ca23d8c081939bd6181aa67df04	@DISEASE$ is characterized by a dysfunctional of the proximal tubular responsible in its complete form for polyuria, @PHENOTYPICFEATURE$, glycosuria, hypophosphatemia and low molecular weight proteinuria.	has_symptom
+fcddba9658f179eb5f11a78f2261a29664401d8b	No evidence of aminoaciduria, glucosuria, @PHENOTYPICFEATURE$, hypophosphatemia, or hypouricemia indicative of the @DISEASE$ was detected during three to six months of observation.	has_symptom
+4fb738dd511c7dd2577b39eefbe40a1a6b3cf604	No evidence of aminoaciduria, glucosuria, hypokalemia, @PHENOTYPICFEATURE$, or hypouricemia indicative of the @DISEASE$ was detected during three to six months of observation.	false
+ca6af4db966aa69e05f667975b606c35d8ece245	No evidence of aminoaciduria, glucosuria, @DISEASE$, @PHENOTYPICFEATURE$, or hypouricemia indicative of the Fanconi syndrome was detected during three to six months of observation.	false
+286456527d4944e0701dd98bb048161b9b93a05e	A diagnosis of @DISEASE$ was based on renal glycosuria, hypophosphatemia, @PHENOTYPICFEATURE$, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	has_symptom
+f467163af621a30887783ddc09b2c55009d72d24	A diagnosis of Fanconi syndrome was based on renal glycosuria, @PHENOTYPICFEATURE$, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and @DISEASE$.	false
+3e4b6aa100920d0175004e8bfce83068350b5ebd	A diagnosis of Fanconi syndrome was based on renal @PHENOTYPICFEATURE$, hypophosphatemia, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and @DISEASE$.	false
+7aa36028db00affd258e1aca369a792b87f656ff	A diagnosis of Fanconi syndrome was based on renal @PHENOTYPICFEATURE$, hypophosphatemia, @DISEASE$, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+b142bdcf8ccb712af325c326e126b460421dfbf8	A diagnosis of Fanconi syndrome was based on renal glycosuria, @PHENOTYPICFEATURE$, @DISEASE$, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+764049829cb7dea942fb9d5e7fdd62e39a93e644	A diagnosis of @DISEASE$ was based on renal @PHENOTYPICFEATURE$, hypophosphatemia, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+7e6fa71e62c3c6a0f0ed306901863c251be8643a	A diagnosis of @DISEASE$ was based on renal glycosuria, @PHENOTYPICFEATURE$, hypokalemia, and panaminoaciduria due to abnormal excretion from the kidney, and metabolic acidosis.	false
+f102e04a21af07a22899fd5befc35415b3ecf330	More recently, he was noted to have features of @DISEASE$ with acidosis, hypophosphatemia, @PHENOTYPICFEATURE$, glucosuria, and nephrotic-range proteinuria.	has_symptom
+3b9ff412299403dbcb60f15e8609e731acf7a1e7	More recently, he was noted to have features of @DISEASE$ with acidosis, @PHENOTYPICFEATURE$, hypokalemia, glucosuria, and nephrotic-range proteinuria.	false
+a307ad3cddad09229388297c92813ebd1d3f2287	More recently, he was noted to have features of Fanconi syndrome with acidosis, @PHENOTYPICFEATURE$, hypokalemia, glucosuria, and nephrotic-range @DISEASE$.	false
+96544dd4dd187995c159299095294cb1970a9c25	More recently, he was noted to have features of Fanconi syndrome with acidosis, @PHENOTYPICFEATURE$, @DISEASE$, glucosuria, and nephrotic-range proteinuria.	false
+3b8d4a5706e91b2f1146003949811101a807a938	Herein, we present?a case report that details the course of a 64-year-old female with a?history of stage IV undifferentiated pleomorphic sarcoma who after her sixth chemotherapeutic cycle (adriamycin, ifosfamide, and mesna) developed severe @PHENOTYPICFEATURE$, hypophosphatemia,?and proteinuria without glycosuria, eventually diagnosed with partial @DISEASE$.	has_symptom
+3c97e7d5dea08f76267726140012af1283ed8429	Herein, we present?a case report that details the course of a 64-year-old female with a?history of stage IV undifferentiated pleomorphic sarcoma who after her sixth chemotherapeutic cycle (adriamycin, ifosfamide, and mesna) developed severe @DISEASE$, @PHENOTYPICFEATURE$,?and proteinuria without glycosuria, eventually diagnosed with partial Fanconi syndrome.	false
+52d3cc1321d597c7a67ac975040530e97dac5da6	Herein, we present?a case report that details the course of a 64-year-old female with a?history of stage IV undifferentiated pleomorphic sarcoma who after her sixth chemotherapeutic cycle (adriamycin, ifosfamide, and mesna) developed severe hypokalemia, @PHENOTYPICFEATURE$,?and proteinuria without glycosuria, eventually diagnosed with partial @DISEASE$.	false
+4ccb7589d7bacb6e62cca023465b832061dc34b5	Herein, we present?a case report that details the course of a 64-year-old female with a?history of stage IV @DISEASE$ who after her sixth chemotherapeutic cycle (adriamycin, ifosfamide, and mesna) developed severe hypokalemia, @PHENOTYPICFEATURE$,?and proteinuria without glycosuria, eventually diagnosed with partial Fanconi syndrome.	false
+ffa366f594ea47a3ade48d1bc86955d3db194494	Herein, we present?a case report that details the course of a 64-year-old female with a?history of stage IV undifferentiated pleomorphic sarcoma who after her sixth chemotherapeutic cycle (adriamycin, ifosfamide, and mesna) developed severe hypokalemia, @PHENOTYPICFEATURE$,?and @DISEASE$ without glycosuria, eventually diagnosed with partial Fanconi syndrome.	false
+f7342be68483374e9895eb616a82a900ab16d0a0	He also presented with hyperaminoaciduria, renal diabetes, phosphaturia, hypophosphatemia, @PHENOTYPICFEATURE$, hypouricemia, and hyperchloremic metabolic acidosis, supporting a diagnosis of @DISEASE$.	has_symptom
+a37a597f09433f54ddc50a6230501e30f6b7c984	He also presented with hyperaminoaciduria, @DISEASE$, phosphaturia, @PHENOTYPICFEATURE$, hypokalemia, hypouricemia, and hyperchloremic metabolic acidosis, supporting a diagnosis of Fanconi syndrome.	false
+3940ba6b70f5115d6f367814bdf22283f2dd2635	He also presented with hyperaminoaciduria, renal diabetes, phosphaturia, @PHENOTYPICFEATURE$, hypokalemia, hypouricemia, and hyperchloremic metabolic acidosis, supporting a diagnosis of @DISEASE$.	false
+12291b9fc347aae1e11518b48ddd56594c5275ab	He also presented with hyperaminoaciduria, renal diabetes, phosphaturia, @PHENOTYPICFEATURE$, @DISEASE$, hypouricemia, and hyperchloremic metabolic acidosis, supporting a diagnosis of Fanconi syndrome.	false
+c341f74f3207a7a69fc82bf76c55f45fc0e39694	He also presented with hyperaminoaciduria, renal diabetes, phosphaturia, @PHENOTYPICFEATURE$, hypokalemia, hypouricemia, and hyperchloremic @DISEASE$, supporting a diagnosis of Fanconi syndrome.	false
+2ff8f38477404c788a5f551ebe20494769030fdc	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, @DISEASE$, @PHENOTYPICFEATURE$ or hyperkalemia, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	has_symptom
+710a3529862e6f4128e832bce6a14cf1d9c31d6d	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, Fanconi's syndrome, hypokalemia or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and @DISEASE$ of the urinary tract.	false
+531e9b48eec11ec161ce07c15575f464cc45d951	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute @DISEASE$, Fanconi's syndrome, hypokalemia or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+924269be6da94ee41e804c45d2a0b169ff489986	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, @DISEASE$, hypokalemia or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+ac82a6d14dd49c8a9a1e81f32be2985df364479c	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, Fanconi's syndrome, hypokalemia or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic @DISEASE$, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+49e2a2521588974ed1b54222eb639f8827cd2693	Various renal @DISEASE$ were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, Fanconi's syndrome, hypokalemia or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+638d346b96814f4213e26522982e40cb4f613028	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, Fanconi's syndrome, hypokalemia or @PHENOTYPICFEATURE$, hypertension, @DISEASE$, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+ea9948dca6b05cbd0edd4c28684fa44a46b0705a	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, Fanconi's syndrome, @DISEASE$ or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+29fd952006359daa8241aa7f7b654fa753a740e7	@PHENOTYPICFEATURE$ in @DISEASE$: response to growth hormone therapy.	has_symptom
+5a2bc325ccc8ed696699e8b3c4148d418a71971d	Possible etiologic mechanisms of the @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+0a8d75d1c34f55342a48ef067f72b1ef8a52a1a7	@DISEASE$ is a genetic disorder associated with @PHENOTYPICFEATURE$.	has_symptom
+daaa2696313391c2a6f2e264b478b8984ead071c	@DISEASE$ may be an underdiagnosed cause of @PHENOTYPICFEATURE$.	has_symptom
+54b83b1f45bbf7cb033f6fe452fa990ab01f7881	@PHENOTYPICFEATURE$ is one of the key features of @DISEASE$ (NS).	has_symptom
+e8c9f2324bf3745c10d16e6f8f381613e9552a88	@DISEASE$ (NS) is associated with @PHENOTYPICFEATURE$.	has_symptom
+d9bdd2116d885e2a4e1ff568bc055fe0656ea6ca	@PHENOTYPICFEATURE$ represents one of the main features of children with @DISEASE$.	has_symptom
+bbd183a9bd4b4aed2b9975b526109c36f65e2979	@PHENOTYPICFEATURE$ is one of the major features of @DISEASE$ (NS).	has_symptom
+69d514c269c44ad5d256cd5c341d9505df181de3	@DISEASE$ (NS) is associated with @PHENOTYPICFEATURE$ and cardiac defects.	has_symptom
+3ea3ceebb6b65d0b2f698ccbc815b2bb1ae71e41	@DISEASE$ is characterized by typical facies, @PHENOTYPICFEATURE$ and congenital cardiac defects.	has_symptom
+bcf5c1afbc9d57589193f856e5c89cc207b91dab	Another syndrome that has received great attention is the @DISEASE$, which courses with mental retardation, @PHENOTYPICFEATURE$, characteristic facies, and supravalvular aortic and pulmonary stenosis.	has_symptom
+ae2c6c2f2b1ac6791ed81eeee104704a749ec9ed	Another syndrome that has received great attention is the Williams-Beuren syndrome, which courses with @PHENOTYPICFEATURE$, @DISEASE$, characteristic facies, and supravalvular aortic and pulmonary stenosis.	false
+ce3dce62b9c9b6de5de052d40060915ad3b31eb4	@DISEASE$ that has received great attention is the Williams-Beuren syndrome, which courses with @PHENOTYPICFEATURE$, hypercalcemia, characteristic facies, and supravalvular aortic and pulmonary stenosis.	false
+28a0c62f753b98941d8fd98fb11b56647a8b975a	Another syndrome that has received great attention is the @DISEASE$, which courses with @PHENOTYPICFEATURE$, hypercalcemia, characteristic facies, and supravalvular aortic and pulmonary stenosis.	false
+71c9c6f36341f33e20ff10b43e4d4a045c5dfb06	We report an infant in whom @DISEASE$ was diagnosed at 4 weeks who presented with @PHENOTYPICFEATURE$, hypercalciuria, and medullary nephrocalcinosis.	has_symptom
+85600095b08335c76f1eaaf9c468e79c651cf71f	We report an infant in whom Williams syndrome was diagnosed at 4 weeks who presented with @DISEASE$, @PHENOTYPICFEATURE$, and medullary nephrocalcinosis.	false
+183da1fa69bab434746e5ea4ab986d3be0dacbc7	We report an infant in whom @DISEASE$ was diagnosed at 4 weeks who presented with hypercalcemia, @PHENOTYPICFEATURE$, and medullary nephrocalcinosis.	false
+ab0321e202bac3d037b7e2195b7a0ae082613b78	A genetic cause was identified in 3 children (2 familial hypocalciuria @PHENOTYPICFEATURE$, 1 @DISEASE$).	has_symptom
+26a5b1b8cf9655e34ffff08b15c5d3709ac6bb53	Seventy six children with documented Fanconi-type idiopathic infantile @PHENOTYPICFEATURE$ were studied and compared with 41 with the @DISEASE$.	has_symptom
+1c3543be68c8288ca78f0162ac691c959c773dbb	@DISEASE$ first described in 1961 is generally characterised by mental deficiency, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile @PHENOTYPICFEATURE$.	has_symptom
+428512d5b2fad7f3c10da041bb9c594fa236b99e	@DISEASE$ first described in 1961 is generally characterised by @PHENOTYPICFEATURE$, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile hypercalcaemia.	false
+4a3312ef53cc3564900526b905fca07e488afa6b	Williams syndrome first described in 1961 is generally characterised by @PHENOTYPICFEATURE$, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile @DISEASE$.	false
+4300d2d4208c0d2b27dd2196b9cbe6da11bd54cf	A survey of adults with @DISEASE$ and idiopathic infantile @PHENOTYPICFEATURE$.	has_symptom
+e8782a94b7bf54a607099411ac04501df3a1ef37	@DISEASE$ (WBS), benign familial hypocalciuric @PHENOTYPICFEATURE$ (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's metaphyseal dysplasia, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	has_symptom
+1d1c7790a49c0da214b049c16bedd3e3df79ca6f	Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, @DISEASE$, malignancy were all ruled out.	false
+a3e36b3ff1bedfdb12ae04fcc9c6af6ad8c77874	Williams-Beuren syndrome (WBS), benign familial hypocalciuric @DISEASE$ (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+e58c696aa69a0c26b0888f835552a4e5bb0b7968	@DISEASE$ (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+4d64187e6872d968f30422c78d2dbcdf9b8b2d10	Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+4ae01c5b5810cf9ddbea3f2fcb3603767ea38d82	@DISEASE$ is characterized by mild mental retardation, specific neurocognitive profile, @PHENOTYPICFEATURE$ during infancy, distinctive facial features and cardiovascular diseases.	has_symptom
+0c97042bc858d55498a894f5797a6e15fbacf15b	@DISEASE$ is associated with neonatal @PHENOTYPICFEATURE$ of unclear pathogenesis.	has_symptom
+8d44b59a101f94dc2f518cb1bfd5db2da134bf70	Intrauterine @PHENOTYPICFEATURE$ and non-immune hydrops fetalis--relationship to the @DISEASE$.	has_symptom
+a8648d840b8c01c25098821a10fad1e67b482961	Generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) and severe @DISEASE$ (SMEI) differ in their clinical severity and prognosis even though mutations of the Na(v) 1.1 sodium channel are responsible for both disorders.	has_symptom
+70a66f0100c4b98a9e87a4a2be51bd7b32415271	Familial occurrence of @PHENOTYPICFEATURE$ and epilepsy in severe @DISEASE$ (SMEI) patients with SCN1A mutations.	has_symptom
+6a26d0a2fef46d9b5cb6ba083e6c592fb23a4a7a	Epilepsies linked to SCN1A mutations range from a relatively benign syndrome called generalized epilepsy with @PHENOTYPICFEATURE$ plus to severe childhood epilepsies such as severe @DISEASE$ (Dravet syndrome).	has_symptom
+997bb90db75691ceb74c40eb7c9bf3a1b1dcd0d7	Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) families and severe @DISEASE$.	has_symptom
+b41710a84bef5e5bb332445f4a784f282fe40c64	Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with @PHENOTYPICFEATURE$ (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe @DISEASE$.	has_symptom
+d67d7fd9af18b5da2b7dd39ccbaae202570a44f2	Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) and Dravet syndrome (DS, severe @DISEASE$).	has_symptom
+e4fa0452966281c7d8cf0f7176d335c6c6cfd9f4	We report two Italian families in which the fathers showed @PHENOTYPICFEATURE$ plus (FS+), and two sons had severe @DISEASE$ (SMEI).	has_symptom
+322aefc6e447d43b0bc506697e8e52968ad5e35f	Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) and Dravet syndrome (severe @DISEASE$).	has_symptom
+36631917add2796c783fee091a0b538420ccc999	Mutations in the voltage-gated sodium channel gene SCN1A are a major cause of severe @DISEASE$ (Dravet syndrome) and generalized epilepsy with @PHENOTYPICFEATURE$ plus.	has_symptom
+13a73f471208112a620dbed49a7b71d44c6ffed3	The role of the familial background in severe @DISEASE$ (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of @PHENOTYPICFEATURE$ (FS) or epilepsy.	has_symptom
+b89f72d427be7b5a2f8ef03c9a539732e3f55482	However, de novo mutations are more commonly reported in cases of severe @DISEASE$, and are less often reported in generalized epilepsy with @PHENOTYPICFEATURE$ plus.	has_symptom
+11a57c207f2ca3ea2663d730d8012c3191537ff6	However, de novo @PHENOTYPICFEATURE$ are more commonly reported in cases of severe myoclonic epilepsy of infancy, and are less often reported in generalized epilepsy with @DISEASE$ plus.	false
+6d7869caa41e4142fb4ef7f48e049fd7d5f9cfe3	However, de novo @PHENOTYPICFEATURE$ are more commonly reported in cases of severe @DISEASE$, and are less often reported in generalized epilepsy with febrile seizures plus.	false
+4b3b8197463ff79c473a6ca607eda945a5c148a4	Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the @DISEASE$, delayed milestones, @PHENOTYPICFEATURE$ and congenital deafness.	has_symptom
+3a5583b24ad2ac0cea816fca5050e08fbc1c8a98	Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the stiff-baby syndrome, delayed milestones, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8afedd590f879ea4e5d0b08b470daebc3f39f4cd	Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the @DISEASE$, delayed milestones, mental deficiency and @PHENOTYPICFEATURE$.	false
+df34f5d414199cd68ad0b0654b1496b4ea7e4875	A 19-year-old woman presented with psychomotor retardation, developmental delay, @PHENOTYPICFEATURE$, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	has_symptom
+50fc3c3c0efad5dc5f359aaab92cce7c0b6c31d1	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, @PHENOTYPICFEATURE$, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+bdb324b226694f65bf37295c97f74f08c98973c8	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+fb877b9a1c4b2a659fa560804a7808eaa822e64b	A 19-year-old woman presented with psychomotor retardation, developmental delay, @DISEASE$, short stature, low body weight, general @PHENOTYPICFEATURE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+2ed16ea1b3d183cdc11bff3b13de4aaccf2d4bfa	A 19-year-old woman presented with psychomotor retardation, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+dd572a45cdb890f198b513a93f1a8f746e89cb20	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general @PHENOTYPICFEATURE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+bc81d08c5c74ce7a73ba17b82c0fc2b90e23c5a4	A 19-year-old woman presented with psychomotor retardation, developmental delay, @DISEASE$, short stature, low body weight, general muscle hypotonia, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+a27a56d0992c53829cc2d2ebb2c7fa2993c0b1bb	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	has_symptom
+9b04c6e81671ff243aaa60e15241f78c4e5c480b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	has_symptom
+42cee0971b79e9e11653c0983b7031d113184baf	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+df7ac4d75516c24e2995410183bdeef255ec577b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+df76ef5d14d02bdb8a09b994f682bcab0edb6b8d	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+3e1476853d003148fb965e8b8f59d1ad428fe5b5	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+821cc2950c6a2998b3e79d1d1521abdb17995eaa	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+54b44634f2d8c13f673c0f93ca6942744d127a08	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and @DISEASE$.	false
+75ad1a3f5ca0b6b8fe1ef936bebf2136c28f8844	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and @DISEASE$.	false
+2132cd0ade6d6f66ac16b1d1caa61f6b233c0727	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	false
+37c6d72d26bffa39e68b9fee8bf271efccebb3bf	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	false
+05d54b4afbf60c77c795cd97ff1ee37f893141f1	It differs from this and both the classical and connatal forms of @DISEASE$ in that it is relatively mild in form, onset is delayed beyond age 2 years, nystagmus is absent, tremors are prominent, @PHENOTYPICFEATURE$ is not severe, some patients show dementia or personality disorders, the disease is progressive rather than static in some, and several females show signs of disease.	has_symptom
+1f731e234166a26c11210e0bf53da43983b4fb08	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @PHENOTYPICFEATURE$, dysarthria, optic atrophy and peripheral neuropathy in adulthood.	has_symptom
+07ee7b3c65f04a415174ca24f27bdc3597b76ce3	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of @DISEASE$ with mental retardation, dysarthria, optic atrophy and @PHENOTYPICFEATURE$ in adulthood.	false
+6025de48be24faa36ce73a5d3f0469f03beb8105	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @DISEASE$, dysarthria, @PHENOTYPICFEATURE$ and peripheral neuropathy in adulthood.	false
+b6bfe9b9e39de73548c0d78a918485baca93b574	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of @DISEASE$ with mental retardation, dysarthria, @PHENOTYPICFEATURE$ and peripheral neuropathy in adulthood.	false
+9f9f9c1f89cd15ae7de3fe6a36375162e8303b59	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy and @PHENOTYPICFEATURE$ in adulthood.	false
+c69ea3c25a83239356d86ce23c88a7ea19da39ee	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, @PHENOTYPICFEATURE$ and peripheral neuropathy in adulthood.	false
+e1d3db3c8f77b6434eac5f03cb984954f09aa43f	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @DISEASE$, dysarthria, optic atrophy and @PHENOTYPICFEATURE$ in adulthood.	false
+0931733297d09997923c2ffe841524b0bdd5f884	Expanding the phenotypic spectrum of Lenz-@DISEASE$: facial palsy, @PHENOTYPICFEATURE$ and hydrocephalus.	has_symptom
+72dddeab20fdfa8d07a71a27e43492e7bf17f801	Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7bd3f84589ee81afc6397d772fc08345f512ed0e	Expanding the phenotypic spectrum of Lenz-@DISEASE$: facial palsy, cleft palate and @PHENOTYPICFEATURE$.	false
+885191c74cdbe8e260b880c13411c9c90a159fdb	We report a sporadic case of Lenz-@DISEASE$ (LMS) with newly recognized manifestations including facial palsy, @PHENOTYPICFEATURE$ and hydrocephalus developing later in infancy.	has_symptom
+b2c80160d163abd710c2717701d7eaa8ec4cf02e	We report a sporadic case of Lenz-@DISEASE$ (LMS) with newly recognized manifestations including facial palsy, cleft palate and @PHENOTYPICFEATURE$ developing later in infancy.	false
+f6b36f07019ce5e2ae567ebc39ce3a06c77f91cd	We report a sporadic case of Lenz-Majewski syndrome (@DISEASE$) with newly recognized manifestations including facial palsy, cleft palate and @PHENOTYPICFEATURE$ developing later in infancy.	false
+9529b6be28bf5ec87a0d870743b5026d4f22277b	We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, @DISEASE$ and @PHENOTYPICFEATURE$ developing later in infancy.	false
+70a7134f42625df0c3a211d64a27513d998254d9	Mutations in the X-linked human EPHRIN-B1 gene result in @PHENOTYPICFEATURE$ and other craniofacial anomalies as part of @DISEASE$ (CFNS), but the molecular and developmental mechanisms by which ephrin-B1 controls the underlying developmental processes are not clear.	has_symptom
+20e2bf5e385ba809ff85c5aedb46af164deead18	Between May 2000 and December 2003 56 patients, 47 with cardiomyopathy, 2 with end-stage valvular heart disease, 2 with end-stage ischemic heart disease, 2 with primary malignant cardiac tumor, 1 with complicated congenital heart disease, 1 with @DISEASE$ @PHENOTYPICFEATURE$, and 1 with refractory malignant ventricular arrhythmias, underwent orthotopic heart transplantation in the Transplantation Center of Fudan University.	has_symptom
+74881b231306b171bce9e1a07591bd323f9ecf77	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause @DISEASE$ (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and @PHENOTYPICFEATURE$.	has_symptom
+2f9373e157758e9c3dc023c8ecb7660cea95f00c	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/@DISEASE$, @PHENOTYPICFEATURE$, congenital heart defects, arterial tortuosity, and mental retardation.	false
+ed7539c0924e6e909b0469a3a88fc7dcf929f971	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause @DISEASE$ (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$, congenital heart defects, arterial tortuosity, and mental retardation.	false
+173f7081ed460fa9d8a85dc6048ec79234b31540	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause @DISEASE$ (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, @PHENOTYPICFEATURE$, arterial tortuosity, and mental retardation.	false
+4094c36a7c57a10b71852bbca3fe94209c8b88e4	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, @PHENOTYPICFEATURE$/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and @DISEASE$.	false
+29318cefbc5dd8663e60b066568d9dad24695153	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause @DISEASE$ (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, @PHENOTYPICFEATURE$/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation.	false
+c58fd9622a3385e8ea46a844cdeb422b358e444e	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$, congenital heart defects, arterial tortuosity, and @DISEASE$.	false
+ad056751320a05d27d35daaf0de6cfe3056d558c	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/@DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, arterial tortuosity, and mental retardation.	false
+927f57724ef3bf3db09b0d9de3d492cbf3ab63c4	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, @DISEASE$, @PHENOTYPICFEATURE$/bifid uvula, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation.	false
+86a34e60041e84f0afe139dfd66a5574ac980f64	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, @PHENOTYPICFEATURE$/@DISEASE$, hypertelorism, congenital heart defects, arterial tortuosity, and mental retardation.	false
+fcdfb26fd53a93e6ccc7976c44e32c9fb3d21429	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, @PHENOTYPICFEATURE$, arterial tortuosity, and @DISEASE$.	false
+84b4550fbc1cfb954293d32ffc168593afd6e318	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, @DISEASE$, cleft palate/bifid uvula, hypertelorism, @PHENOTYPICFEATURE$, arterial tortuosity, and mental retardation.	false
+12f27b8734236575a8d56714608f678cf935a124	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, @DISEASE$, cleft palate/bifid uvula, @PHENOTYPICFEATURE$, congenital heart defects, arterial tortuosity, and mental retardation.	false
+9b22cffa0c34ea465ecd11fe715035e38581ec10	It is associated with a significant risk of @PHENOTYPICFEATURE$, a feature which distinguishes it from Marfan and @DISEASE$.	has_symptom
+7022176b25cfc1c7d69437d4dab50a93e35a6e14	At the age of 16, the patient still showed extreme @PHENOTYPICFEATURE$ with delayed puberty and characteristic facial features suggestive of @DISEASE$.	has_symptom
+feaa99d9848d1c70702c40e1e26f3e5d735c1736	In this case, the patient showed @PHENOTYPICFEATURE$, dysmorphic facial features suggestive of @DISEASE$, feeding intolerance, cryptorchidism, and intellectual disability in early childhood.	has_symptom
+d7584d450558637f25b755920c081ee037eb174c	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, @PHENOTYPICFEATURE$, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	has_symptom
+258d3ccfb57aed04012e568f0e11b5421166f81e	In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, @DISEASE$, @PHENOTYPICFEATURE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+dce04a97c2dee474ee84dc940f31b97305fa6700	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, @PHENOTYPICFEATURE$, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+c1c822e7b40d125614554dee2a92f4f24dd6f2c0	In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had @PHENOTYPICFEATURE$, wide cranial sutures, @DISEASE$, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+ecdb5949ddec5916a1c7c296bc31115bb7558bea	In this communication is reported a neonate with @DISEASE$, a rare autosomal recessive disorder, born to a consanguineously married couple who had @PHENOTYPICFEATURE$, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction.	false
+9d2d5f3f058ce695d5474393f053979718267154	Causes of hydrops fetalis were a congenital diaphragmatic hemangioma, recurrent atrial premature beats, genetic syndrome suspicious, Down syndrome, @DISEASE$, anemia, paroxysmal supraventricular tachycardia, placental chorioangioma, and idiopathic @PHENOTYPICFEATURE$.	has_symptom
+815153e099a56d906bcc33845a7936ec808d671e	We have reviewed the CNS manifestations of SLE, Beh?et's disease, Henoch-Sch?nlein purpura, polyarteritis nodosa, juvenile idiopathic arthritis, juvenile ankylosing spondylitis, @DISEASE$, scleroderma, sarcoidosis, Wegener's granulomatosis, Takayasu's arteritis, CINCA syndrome, Kawasaki disease, and primary CNS @PHENOTYPICFEATURE$; and adverse CNS effects of anti-rheumatic drugs in pediatric patients.	has_symptom
+fca304699b6b788441b373bfb9e0ab3e053889aa	We present a 55-year-old woman with a severe case of @DISEASE$, marked by significant @PHENOTYPICFEATURE$, a bedridden state and hallmark cutaneous findings.	has_symptom
+4f1a2f1ab4f36a08b335d136d31edca8e7a8bd74	An adolescent girl with a history of anxiety associated @PHENOTYPICFEATURE$-like episodes was ultimately diagnosed with @DISEASE$.	has_symptom
+31969e901d3896196d087894172ec1117118f74e	@DISEASE$ (PVT) is characterized by episodes of syncope, @PHENOTYPICFEATURE$, or sudden death in response to physiological or emotional stress.	has_symptom
+e90969417500d62f911d31f077b65683405aab65	All isolated HH patients had a history of seizures, compared with 13 of 40 PHS patients (all @DISEASE$ patients with @PHENOTYPICFEATURE$ had hamartomas).	has_symptom
+20c1983eaeb817a8a403f9dbc05d8964aee5a5ad	All isolated HH patients had a history of seizures, compared with 13 of 40 @DISEASE$ patients (all PHS patients with @PHENOTYPICFEATURE$ had hamartomas).	has_symptom
+e61ada14aaf939774d2ae4027e367f1145029c53	All isolated HH patients had a history of @PHENOTYPICFEATURE$, compared with 13 of 40 @DISEASE$ patients (all PHS patients with seizures had hamartomas).	has_symptom
+54de468e29373ac82bb4b5ba14fed3811010813e	All isolated HH patients had a history of @PHENOTYPICFEATURE$, compared with 13 of 40 PHS patients (all @DISEASE$ patients with seizures had hamartomas).	has_symptom
+3dc8146f210321fb66a11c1acd7f87dae18a9229	Intratracheal @DISEASE$ was markedly more potent, producing @PHENOTYPICFEATURE$ threshold elevations at doses of 10 to 15 mg/kg.	has_symptom
+fb4372e69538a9503cd92bc52e40b88291cd825f	Patients with HH with or without @PHENOTYPICFEATURE$ should be evaluated carefully for other clinical manifestations of @DISEASE$, particularly before surgery is considered.	has_symptom
+210763285a3c3ec8262a93dffb6a1b0149832323	Hypothalamic hamartomas and @PHENOTYPICFEATURE$: distinct natural history of isolated and @DISEASE$ cases.	has_symptom
+07637fcb2860b80a855cbdd2da78b4f233312a37	In isolated HH, @PHENOTYPICFEATURE$ started earlier in life, occurred more frequently, and were harder to control than those in patients with @DISEASE$.	has_symptom
+5081208a0bf5b77d23bc026077de5c303ba34250	Here, we demonstrate that intrapulmonary propofol hemisuccinate (@DISEASE$) rapidly confers @PHENOTYPICFEATURE$ protection in various rodent chemoconvulsant models.	has_symptom
+b3ab69e46936563708ec1baf4535228867e3ddaf	In contrast, @DISEASE$ patients usually have well-controlled @PHENOTYPICFEATURE$ and other endocrine disturbances than precocious puberty.	has_symptom
+71afbca0ab60ce3ffed4ad98c0e50208a953ad00	Acute @PHENOTYPICFEATURE$ manifestation was associated with poststroke epilepsy in infants with @DISEASE$ but not in infants with PAIS (86% vs. 0%, p=0.005).	has_symptom
+68e2275c3327811a127431de86f7c4b04a3689a3	Intrapulmonary @DISEASE$ may be useful for preventing the spread of @PHENOTYPICFEATURE$ or aborting seizure clusters without causing prolonged sedation.	has_symptom
+d9aa065034e2591375faac24e64e39ebb3ebbcb9	Intrapulmonary @DISEASE$ may be useful for preventing the spread of seizures or aborting @PHENOTYPICFEATURE$ clusters without causing prolonged sedation.	has_symptom
+7422cfa733e55d537ff2b9a8b6fc066674637fce	Here, we describe a family with two affected children manifesting severe @DISEASE$ with mental retardation, behavioral problems, and intractable @PHENOTYPICFEATURE$.	has_symptom
+ce5445e727d7a656d6e28993a4e4ff94d4f9da17	Here, we describe a family with two affected children manifesting severe PHS with @PHENOTYPICFEATURE$, behavioral problems, and intractable @DISEASE$.	false
+0d38dba136312f6d891b1c6885dd0d6aa96973f4	Here, we describe a family with two affected children manifesting severe @DISEASE$ with @PHENOTYPICFEATURE$, behavioral problems, and intractable seizures.	false
+dd572a45cdb890f198b513a93f1a8f746e89cb20	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general @PHENOTYPICFEATURE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	has_symptom
+c2451b7e6acff79d8309b96e215515ce0b222e8f	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, @PHENOTYPICFEATURE$, low body weight, general @DISEASE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+50fc3c3c0efad5dc5f359aaab92cce7c0b6c31d1	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, @PHENOTYPICFEATURE$, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+bdb324b226694f65bf37295c97f74f08c98973c8	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+df34f5d414199cd68ad0b0654b1496b4ea7e4875	A 19-year-old woman presented with psychomotor retardation, developmental delay, @PHENOTYPICFEATURE$, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+b734f21f50ea8264e142feb3ab094c0d647c9ec1	A 19-year-old woman presented with psychomotor retardation, developmental delay, @PHENOTYPICFEATURE$, short stature, low body weight, general @DISEASE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+e1be86841913136b14d5ae0102e65524cbb6e963	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general @DISEASE$, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+2132cd0ade6d6f66ac16b1d1caa61f6b233c0727	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	has_symptom
+37c6d72d26bffa39e68b9fee8bf271efccebb3bf	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	has_symptom
+589f137537bb0411a8e75c5d99117c8778d88468	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @DISEASE$ with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+9b04c6e81671ff243aaa60e15241f78c4e5c480b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+42cee0971b79e9e11653c0983b7031d113184baf	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+df7ac4d75516c24e2995410183bdeef255ec577b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+2a0ed8cf4c26a5ba1e4b50475cb98a54b08d2c2e	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @DISEASE$ with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+df76ef5d14d02bdb8a09b994f682bcab0edb6b8d	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+821cc2950c6a2998b3e79d1d1521abdb17995eaa	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+a27a56d0992c53829cc2d2ebb2c7fa2993c0b1bb	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+b02e490d0067759a9dd907b0f644b35f651ff0bc	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @DISEASE$ with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+88ac09d24cc527f3f987d4e54aa279ce6a635513	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, @PHENOTYPICFEATURE$, nystagmus, visual impairment, abnormal movements, and spasticity.	has_symptom
+4c1addde758694261d31c3d4e5480526721406b0	An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, @DISEASE$, nystagmus, @PHENOTYPICFEATURE$, abnormal movements, and spasticity.	false
+148fe9cef1e0ad64fe466b31be0183f60a60d6ab	An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, @DISEASE$, nystagmus, visual impairment, abnormal movements, and @PHENOTYPICFEATURE$.	false
+1144bfd55a2562901d20591ee265d41fffa2465a	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and @PHENOTYPICFEATURE$.	false
+1c6d73075672e77d85b48ef911dafcc0cc87ca5b	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, seizures, nystagmus, @PHENOTYPICFEATURE$, abnormal movements, and spasticity.	false
+caea8cbced0a1fd280e2c7e3540f787ae704d86e	Clinical @PHENOTYPICFEATURE$, mainly of focal origin, with progressive slowing and paroxysmal discharges on EEGs, usually appeared during the later stages of metachromatic leukodystrophy, X-linked childhood adrenoleukodystrophy, and classic @DISEASE$.	has_symptom
+fc03fd4d694af71d039cfb4b3ffa2a58a21464e6	Psychogenic movement disorder (@DISEASE$) and psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) are two subtypes of conversion disorder (CD).	has_symptom
+f0d572f4bd9f39310156c9f6c3a1518f2ed5f2f7	Personality traits in psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) and psychogenic movement disorder (@DISEASE$): Neuroticism and perfectionism.	has_symptom
+2b177828638c6234980e651e5473043d313d1ddf	General anesthesia for a patient with @DISEASE$ may be difficult mainly because of @PHENOTYPICFEATURE$ and airway complications related to poor pharyngeal muscle control.	has_symptom
+ca280070ef6eec44ef61a858bb35584d5abc0410	Psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) and psychogenic movement disorders (@DISEASE$) are commonly seen in Neurology practice and are categorized in the DSM-5 as functional neurological disorders/conversion disorders.	has_symptom
+9de817a6f27773231b69abed548a44e943833ccc	However, regression analysis showed a significant correlation between the resection length of inferior or basal temporal gyrus and verbal @DISEASE$ (p<0.001) in left TLE patients with @PHENOTYPICFEATURE$-free outcome.	has_symptom
+865b9df543ce797fa2d0baab68b338dee808b9ff	Psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) and psychogenic movement disorders (@DISEASE$) are common and disabling problems with abnormal psychological profiles, and they may have common features that could aid in better understanding and management.	has_symptom
+3904e4cf70634235139f0aecbd531423cbb55000	Psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) and psychogenic movement disorders (@DISEASE$) are among the most common psychogenic neurologic disorders.	has_symptom
+8ac0485a9086e22a2c38d1de503d4b58d23a9e8d	West Syndrome (WS) is age-related epileptic encephalopathy characterised by a triad of symptoms: specific @PHENOTYPICFEATURE$ type, pathognomonic electroencephalographic (EEG) pattern--hypsarrhythmia and delay and/or regression in psychomotor development (@DISEASE$).	has_symptom
+60943ccfd10d0c4dd812fa403a14f31778e2bffa	Fifteen had major @PHENOTYPICFEATURE$ and 10 had @DISEASE$ dysmorphism suggesting a syndrome.	has_symptom
+98b73a50760bbd4a523d64907e3022daf2009c7f	However, all these disorders have some common clinical manifestations, including @PHENOTYPICFEATURE$, @DISEASE$ anomaly, and developmental delay.	has_symptom
+5e38eb802f5f3e3f11adb6283e1cfc191abccf95	Affected patients present with @PHENOTYPICFEATURE$, cutaneous abnormalities, Noonan-like @DISEASE$ features and severe psychomotor developmental delay.	has_symptom
+e636e962b6bdab27ecac7d54f083678d98734225	Clinical manifestations include characteristic @DISEASE$ features, short stature, and @PHENOTYPICFEATURE$.	has_symptom
+d259dc1c06b5df876511896f977451bac3b53bed	Clinical manifestations include characteristic @DISEASE$ features, @PHENOTYPICFEATURE$, and cardiac anomalies.	false
+7f9a6f6ebd339b72fba5d7682e94bb835fcf5315	Clinical manifestations include characteristic facial features, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+eb06e8640269cdc73e5ad78a44b48f2cb8315760	However, @DISEASE$ defects, @PHENOTYPICFEATURE$ or skeletal defects were more commonly missed.	has_symptom
+62bdf12630ba0ee07b900c5684b948fb43efab4e	@PHENOTYPICFEATURE$, T-cell deficits, cleft palate @DISEASE$ anomalies, and hypocalcaemia.	has_symptom
+648739bdc1705fee5339ec730b3c7f81f4b50dff	cardiac abnormalities, T-cell deficits, @PHENOTYPICFEATURE$ @DISEASE$ anomalies, and hypocalcaemia.	false
+d260536d916de3634c239998bdc03cc3ce703834	@DISEASE$, T-cell deficits, @PHENOTYPICFEATURE$ facial anomalies, and hypocalcaemia.	false
+62b0ac3143d5d05fe95f38354b549e82a743eedd	He has mild @DISEASE$ anomalies, hand-foot abnormalities, hypospadias, @PHENOTYPICFEATURE$, and supernumerary nipples.	has_symptom
+bfa467f81e51d8f718fa22f71e93bd096ab58d74	Left ventricular hypertrabeculation/noncompaction with epilepsy, other @PHENOTYPICFEATURE$, minor @DISEASE$ anomalies and new copy number variants.	has_symptom
+1bbbb5eda25c425dffb08c10db751450ef3d844d	The baby showed a typical @DISEASE$ malformation, epicanthal fold, decreased muscle tone, and @PHENOTYPICFEATURE$.	has_symptom
+b0c1eea91f4f25b2a70f305fd35535fbca3acc79	The baby showed a typical @DISEASE$ malformation, @PHENOTYPICFEATURE$, decreased muscle tone, and cardiac abnormalities.	false
+04350c266cf47a951171a64a299f9681d2205ab6	The baby showed a typical facial malformation, @PHENOTYPICFEATURE$, decreased muscle tone, and @DISEASE$.	false
+6df15789b81d9db2639c0a8500ca79c871b8aef5	such as @PHENOTYPICFEATURE$ and typical @DISEASE$	has_symptom
+4d31353c654c3a2f1665fdde66dc7c46377e42bb	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare X-linked recessive disorder with symptoms including nystagmus, impaired motor development, @PHENOTYPICFEATURE$, and progressive spasticity.	has_symptom
+53aece6bbaff223ddaf19e8039742b4a52aa9fc1	@DISEASE$ (PMD) is a rare X-linked recessive disorder with symptoms including nystagmus, impaired motor development, @PHENOTYPICFEATURE$, and progressive spasticity.	has_symptom
+2a1c810f3287e894e8dfc5c5705d5ea6ad298ac9	@DISEASE$ (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, @PHENOTYPICFEATURE$, progressive spasticity, and cognitive decline.	has_symptom
+85ed1e7b71b0234471f5ded5af50565a05db75bf	Pelizaeus-Merzbacher disease (@DISEASE$) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, @PHENOTYPICFEATURE$, progressive spasticity, and cognitive decline.	has_symptom
+1fcde8a0fe8acfa9a891decef6cb7461a57f790e	@DISEASE$ (PMD) is a rare X-linked recessive hypomyelination disorder characterized by nystagmus, @PHENOTYPICFEATURE$, impaired motor development, and progressive spasticity.	has_symptom
+c7587b7c257d765f47135de4cad294d840d3f0d7	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare X-linked recessive hypomyelination disorder characterized by nystagmus, @PHENOTYPICFEATURE$, impaired motor development, and progressive spasticity.	has_symptom
+9900977781eb7af82985c606a9cb7a2d2523f135	Like @DISEASE$ (PMD), PMLD is characterized clinically by nystagmus, @PHENOTYPICFEATURE$, and spasticity, due to a permanent lack of myelin deposition in the brain.	has_symptom
+5792b749eb9987d6107e256437012a9905a10019	Like Pelizaeus-Merzbacher disease (@DISEASE$), PMLD is characterized clinically by nystagmus, @PHENOTYPICFEATURE$, and spasticity, due to a permanent lack of myelin deposition in the brain.	has_symptom
+5431bceae689b219395f5ee99637df03e1192672	Like @DISEASE$ (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and @PHENOTYPICFEATURE$, due to a permanent lack of myelin deposition in the brain.	false
+1ef28f8e1721c7df17d1e6db472e52548b08e6ca	Like Pelizaeus-Merzbacher disease (@DISEASE$), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and @PHENOTYPICFEATURE$, due to a permanent lack of myelin deposition in the brain.	false
+49babeafeed2a0f5ab9b4c6ec984de45b4ca5416	Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, @DISEASE$, and @PHENOTYPICFEATURE$, due to a permanent lack of myelin deposition in the brain.	false
+df76ef5d14d02bdb8a09b994f682bcab0edb6b8d	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	has_symptom
+42cee0971b79e9e11653c0983b7031d113184baf	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	has_symptom
+627684c2c20abfe7a28166e9e9b720e5fa32b95d	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+9b04c6e81671ff243aaa60e15241f78c4e5c480b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+df7ac4d75516c24e2995410183bdeef255ec577b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+821cc2950c6a2998b3e79d1d1521abdb17995eaa	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	false
+a27a56d0992c53829cc2d2ebb2c7fa2993c0b1bb	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+147072660fa9a46a3e9082b979caefd40641cf15	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent @DISEASE$, spasticity and mental retardation.	false
+2132cd0ade6d6f66ac16b1d1caa61f6b233c0727	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	false
+86ebe0e6d9b400a434ec0342a0b6653e6231e8ce	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @DISEASE$, spasticity and @PHENOTYPICFEATURE$.	false
+37c6d72d26bffa39e68b9fee8bf271efccebb3bf	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	false
+4af6487514b2c22eb66643283d181258193718cf	Clinical manifestations of @DISEASE$ are variable and major features include progressive nystagmus, spasticity, tremor, @PHENOTYPICFEATURE$, and psychomotor delay.	has_symptom
+6a525cef692050a83e8dab72f1919e40703dec3c	Clinical manifestations of @DISEASE$ are variable and major features include progressive nystagmus, @PHENOTYPICFEATURE$, tremor, ataxia, and psychomotor delay.	false
+4843f132613b6743ea795fdddb445f16ffd91be5	Clinical manifestations of PMD are variable and major features include progressive nystagmus, @PHENOTYPICFEATURE$, tremor, @DISEASE$, and psychomotor delay.	false
+373d03d873b88a5011ad39a6c13dc3ac6eea234c	The patterns of neuronal involvement may explain some clinical findings, such as @PHENOTYPICFEATURE$, being more prominent in @DISEASE$ than in other leukodystrophies.	has_symptom
+14bda268989f8feffd6c298afcc03f192111d90b	@DISEASE$ (PMD) is a rare X-linked  recessive disorder characterized by nystagmus, impaired motor development,  @PHENOTYPICFEATURE$, and progressive spasticity.	has_symptom
+90c63c89869e58057fe999cae73ccfdcb34faffc	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare X-linked  recessive disorder characterized by nystagmus, impaired motor development,  @PHENOTYPICFEATURE$, and progressive spasticity.	has_symptom
+97169605ec692f014fb4d0170b34f989984067a5	The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (@DISEASE$) and Pelizaeus-Merzbacher-like disease (PMLD) are characterized by nystagmus, progressive spasticity, and @PHENOTYPICFEATURE$.	has_symptom
+85b55cf5f290a84fcfb73e5e5cd822b161b3a346	The hypomyelinating leukodystrophies X-linked @DISEASE$ (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are characterized by nystagmus, progressive spasticity, and @PHENOTYPICFEATURE$.	has_symptom
+5bf5f2826b6d0b49b747e383d756da81e6049fcd	Clinical features of @DISEASE$ include progressive psychomotor developmental delay, nystagmus, spastic quadriplegia, dystonia, and @PHENOTYPICFEATURE$.	has_symptom
+f6a91956a7f4bd577bd0ba48db9571814fef05ee	Commonly reported findings in addition to those of @DISEASE$ include metopic craniosynostosis, hydrocephalus, @PHENOTYPICFEATURE$, and minor facial anomalies.	has_symptom
+888d6843d231a84fe3e99bf98d77f52a5e2eeac5	Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, and minor facial anomalies.	false
+91f294c99cc535cef867969cfc99dfb3c1b66235	Commonly reported findings in addition to those of @DISEASE$ include metopic craniosynostosis, @PHENOTYPICFEATURE$, intellectual disability, and minor facial anomalies.	false
+9b55800bd9fdf501b85f47220e7e28b82f271e85	Commonly reported findings in addition to those of Gorlin syndrome include metopic @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability, and minor facial anomalies.	false
+ccbe8e061857b4e779aa6771678cb6fcf50a61b4	Commonly reported findings in addition to those of Gorlin syndrome include metopic craniosynostosis, @PHENOTYPICFEATURE$, intellectual disability, and minor @DISEASE$ anomalies.	false
+072072bb179a236b917c86f0908a52805775c599	Both have typical features of @DISEASE$ plus additional findings, including @PHENOTYPICFEATURE$, conductive hearing loss, and failure to thrive.	has_symptom
+e3d7ce88ff52abf0be5ae4db6ed67c5bf89ac467	Both have typical features of Gorlin syndrome plus additional findings, including @DISEASE$, @PHENOTYPICFEATURE$, and failure to thrive.	false
+e15c86059187fe3a39dbeb6c91eca0f5139419c7	Both have typical features of Gorlin syndrome plus additional findings, including @DISEASE$, conductive hearing loss, and @PHENOTYPICFEATURE$.	false
+f0f2a8e49146fe205353140aa986cba18cc05e8a	Both have typical features of @DISEASE$ plus additional findings, including mental retardation, conductive hearing loss, and @PHENOTYPICFEATURE$.	false
+b0958a9837080d39a86ebd325aba72fe27c61371	Both have typical features of @DISEASE$ plus additional findings, including mental retardation, @PHENOTYPICFEATURE$, and failure to thrive.	false
+07f8ecc882e1ecc558d5d9c659ccd2a7e561bb0f	Neurologic involvement in @DISEASE$ includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and @PHENOTYPICFEATURE$.	has_symptom
+232bb09c6aa5d697c47520572390401f22c4abd4	Neurologic involvement in @DISEASE$ includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial neoplasms, and mental retardation.	false
+6ad0bb4fac6c6906f79cc22f89f7fd05955289ea	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial @DISEASE$, and mental retardation.	false
+0a9fa7f45e3125d7ec37c4277512b3c44861a38b	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2fc848f589291eb3920541db3bb82a380a533eaa	Neurologic involvement in @DISEASE$ includes intracranial calcification, congenital hydrocephalus, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+81c7337396ff43696832fcfb24785dffefd60507	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, congenital hydrocephalus, intracranial neoplasms, and @DISEASE$.	false
+f1b75605004f9a465ba7a40d8a8cab6dbdc206df	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, @DISEASE$, intracranial neoplasms, and mental retardation.	false
+b5e7ebabaed0fc0dbf6a008f31a2806d9447691d	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, @DISEASE$, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+02265de44ad4c0dcd404f8520ce5fb43da5e48f1	Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by @DISEASE$, skeletal abnormalities and sometimes @PHENOTYPICFEATURE$.	has_symptom
+bd98d54a4af4ab8fbc4c3e0ad09d997e5fb0bc0d	@DISEASE$ is an autosomal dominant condition characterized by multiple basal cell carcinomas, skeletal abnormalities and sometimes @PHENOTYPICFEATURE$.	has_symptom
+930e4c7ebdc33ace1f3fc35926d356b109a40112	Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by @DISEASE$, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+8f42705ca22b410b4506e8f7d99ed2349d9c860d	Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by multiple basal cell carcinomas, @PHENOTYPICFEATURE$ and sometimes @DISEASE$.	false
+fb211f349d0a6d6797b916b2bdab044735e89c7f	@DISEASE$ is an autosomal dominant condition characterized by multiple basal cell carcinomas, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+0e62f02dd41e53fa3771eb36c0e8141b7a038d98	In addition to @PHENOTYPICFEATURE$, congenital communicating hydrocephalus, and medulloblastoma, seizures should be included among the neurological manifestations of the @DISEASE$.	has_symptom
+ffe1b61ddbc8a53c324f0c01691cc86754a28d9a	In addition to @DISEASE$, congenital communicating hydrocephalus, and medulloblastoma, @PHENOTYPICFEATURE$ should be included among the neurological manifestations of the nevoid basal cell carcinoma syndrome.	false
+51afc50e443a5d445c6af97afc3c719ef8836d48	In addition to mental retardation, congenital communicating hydrocephalus, and medulloblastoma, @PHENOTYPICFEATURE$ should be included among the neurological manifestations of the @DISEASE$.	false
+7f2fc93c5d70fb6d238f5443387bb5cbf1e18955	In addition to mental retardation, congenital communicating hydrocephalus, and @DISEASE$, @PHENOTYPICFEATURE$ should be included among the neurological manifestations of the nevoid basal cell carcinoma syndrome.	false
+00e16d8b1e6633d97bf7e0dbbf9c9ca7321f56e6	The case of a young, @PHENOTYPICFEATURE$ woman with the @DISEASE$ is presented in whom about 150 basal-cell carcinomas on the face were treated simultaneously be curettage and electrodesiccation with the patient under general anesthesia.	has_symptom
+81851556b65dd5b758c0e4efa6fb192a122dc76a	Some data lend support to the notion that vivax malaria relapse followed febrile illness caused by @DISEASE$, trench fever, epidemic typhus, and Malta @PHENOTYPICFEATURE$ (brucellosis).	has_symptom
+10c0369e1de8b2431fd66c598220c5bc49302901	Both malaria and @DISEASE$ Borrelia are infectious diseases characterized by @PHENOTYPICFEATURE$, headache, myalgia, hepatosplenomegaly and tendency to relapse.	has_symptom
+1144bfd55a2562901d20591ee265d41fffa2465a	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and @PHENOTYPICFEATURE$.	has_symptom
+1c6d73075672e77d85b48ef911dafcc0cc87ca5b	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, seizures, nystagmus, @PHENOTYPICFEATURE$, abnormal movements, and spasticity.	false
+a72ff50cbbc92d9f7c53bbb80890460a622b1af5	An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, @PHENOTYPICFEATURE$, abnormal movements, and @DISEASE$.	false
+88ac09d24cc527f3f987d4e54aa279ce6a635513	An infant female had connatal @DISEASE$ with neonatal onset of developmental failure, @PHENOTYPICFEATURE$, nystagmus, visual impairment, abnormal movements, and spasticity.	false
+0b3fcaefbd005bf032d90b06bc6305328a133f1e	An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, @PHENOTYPICFEATURE$, nystagmus, visual impairment, abnormal movements, and @DISEASE$.	false
+02be48d1128c74379f03b9eddd0b93e8010df990	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, ataxia, @PHENOTYPICFEATURE$, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and spasticity.	has_symptom
+57525c58abf647731207699dc6e3fceb87d15ea4	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and @PHENOTYPICFEATURE$.	has_symptom
+b7739d5ec56366fb87c0b8f601683e3ce4a78b99	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and @PHENOTYPICFEATURE$; the major findings in SPG2 are leg weakness and spasticity.	false
+7e7cc6436c1e35c6a5ecf6cf99924f889287ec74	Signs of PMD include nystagmus, hypotonia, tremors, titubation, @PHENOTYPICFEATURE$, spasticity, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and @DISEASE$.	false
+87baa27b601a2168a37ec027556902ecaa302857	Signs of PMD include nystagmus, hypotonia, tremors, titubation, @PHENOTYPICFEATURE$, @DISEASE$, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and spasticity.	false
+2e7e31a31e2433c78277a69c471ebfadb21da056	Signs of @DISEASE$ include nystagmus, hypotonia, tremors, titubation, @PHENOTYPICFEATURE$, spasticity, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and spasticity.	false
+b538cbc16f813895a22d57dc3c6f3024e8b72643	Signs of PMD include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and @PHENOTYPICFEATURE$; the major findings in SPG2 are leg weakness and @DISEASE$.	false
+540beeb99a454380e04d557a66ccdcd2ca955d2f	Signs of PMD include nystagmus, hypotonia, tremors, titubation, ataxia, @DISEASE$, athetotic movements and @PHENOTYPICFEATURE$; the major findings in SPG2 are leg weakness and spasticity.	false
+cf5828147d37b45652584ccd78f975e586c2619b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+62da2edbb8fa35a1a12fff176bc700aec869b668	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+2308f5f761c096bbf50c36893f9142e3e978bc1c	Pelizaeus-Merzbacher disease (@DISEASE$; MIM#312080) is a rare X-linked leukodystrophy presenting with motor developmental delay associated with @PHENOTYPICFEATURE$ and nystagmus.	has_symptom
+7018b671344dbe16b667cad0ec844c0e5e2356d7	@DISEASE$ (PMD; MIM#312080) is a rare X-linked leukodystrophy presenting with motor developmental delay associated with @PHENOTYPICFEATURE$ and nystagmus.	has_symptom
+5431bceae689b219395f5ee99637df03e1192672	Like @DISEASE$ (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and @PHENOTYPICFEATURE$, due to a permanent lack of myelin deposition in the brain.	has_symptom
+1ef28f8e1721c7df17d1e6db472e52548b08e6ca	Like Pelizaeus-Merzbacher disease (@DISEASE$), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and @PHENOTYPICFEATURE$, due to a permanent lack of myelin deposition in the brain.	has_symptom
+9900977781eb7af82985c606a9cb7a2d2523f135	Like @DISEASE$ (PMD), PMLD is characterized clinically by nystagmus, @PHENOTYPICFEATURE$, and spasticity, due to a permanent lack of myelin deposition in the brain.	false
+5792b749eb9987d6107e256437012a9905a10019	Like Pelizaeus-Merzbacher disease (@DISEASE$), PMLD is characterized clinically by nystagmus, @PHENOTYPICFEATURE$, and spasticity, due to a permanent lack of myelin deposition in the brain.	false
+687d7dd4b8013bab3b0192d57884d9e9e8abfb55	Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, @PHENOTYPICFEATURE$, and @DISEASE$, due to a permanent lack of myelin deposition in the brain.	false
+df7ac4d75516c24e2995410183bdeef255ec577b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+821cc2950c6a2998b3e79d1d1521abdb17995eaa	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+5993755221219631567fe6036baaa0eb878c41b0	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+9b04c6e81671ff243aaa60e15241f78c4e5c480b	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+42cee0971b79e9e11653c0983b7031d113184baf	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+df76ef5d14d02bdb8a09b994f682bcab0edb6b8d	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent @PHENOTYPICFEATURE$, spasticity and mental retardation.	false
+a5f34ecd02dbcdd21d261870b761f0db53f8d923	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a27a56d0992c53829cc2d2ebb2c7fa2993c0b1bb	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and @PHENOTYPICFEATURE$.	false
+2132cd0ade6d6f66ac16b1d1caa61f6b233c0727	@DISEASE$ (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	false
+916c15cbe551d19dc0d3a2baa0e1e3cf9e60fbb5	Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, @DISEASE$ and mental retardation.	false
+37c6d72d26bffa39e68b9fee8bf271efccebb3bf	Pelizaeus-Merzbacher disease (@DISEASE$) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and @PHENOTYPICFEATURE$ with subsequent ataxia, spasticity and mental retardation.	false
+6a525cef692050a83e8dab72f1919e40703dec3c	Clinical manifestations of @DISEASE$ are variable and major features include progressive nystagmus, @PHENOTYPICFEATURE$, tremor, ataxia, and psychomotor delay.	has_symptom
+4af6487514b2c22eb66643283d181258193718cf	Clinical manifestations of @DISEASE$ are variable and major features include progressive nystagmus, spasticity, tremor, @PHENOTYPICFEATURE$, and psychomotor delay.	false
+6e51d3bff1c68ccc3b4e22e4bc8bbcae24e6c07a	Clinical manifestations of PMD are variable and major features include progressive nystagmus, @DISEASE$, tremor, @PHENOTYPICFEATURE$, and psychomotor delay.	false
+71665f803b0b93ad6b8c3feedd92a2cdaf6b7f8b	Supportive therapy for patients with @DISEASE$/SPG2 and PMLD1/SPG44 includes medications for seizures and @PHENOTYPICFEATURE$; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices.	has_symptom
+ee6fafe4c6eff04e7bac08104bc5bbd2b7ec0510	Supportive therapy for patients with @DISEASE$/SPG2 and PMLD1/SPG44 includes medications for seizures and spasticity; physical therapy, exercise, and orthotics for @PHENOTYPICFEATURE$ management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices.	has_symptom
+23f8111b675243bbb434d8c75e5dc2299c0a4bf3	Supportive therapy for patients with PMD/SPG2 and PMLD1/SPG44 includes medications for @PHENOTYPICFEATURE$ and spasticity; physical therapy, exercise, and orthotics for @DISEASE$ management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices.	false
+31158667f949a980bee81d5583e960f6b5ac78e4	Supportive therapy for patients with @DISEASE$/SPG2 and PMLD1/SPG44 includes medications for @PHENOTYPICFEATURE$ and spasticity; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices.	false
+a94bbacc4e4f3b3ea57d402beb5a0fe3d2af838b	Supportive therapy for patients with PMD/SPG2 and PMLD1/SPG44 includes medications for @PHENOTYPICFEATURE$ and spasticity; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and @DISEASE$; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices.	false
+3ca094f89f73d7ed9699d3b2b83ffd48a131f7e5	Supportive therapy for patients with PMD/SPG2 and PMLD1/SPG44 includes medications for @PHENOTYPICFEATURE$ and @DISEASE$; physical therapy, exercise, and orthotics for spasticity management; surgery for contractures and scoliosis; gastrostomy for severe dysphagia; proper wheelchair seating, physical therapy, and orthotics to prevent or ameliorate the effects of scoliosis; special education; and assistive communication devices.	false
+32ded36a0152b0e9d3dc897880d30ce413d0569e	@DISEASE$ may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and @PHENOTYPICFEATURE$, and genetic analysis can confirm the diagnosis.	has_symptom
+2dc60177d0adab6e200e1666d236a4708f6b604f	@DISEASE$ (AS) is a severe neurodevelopmental disorder characterized by mental retardation, seizures and @PHENOTYPICFEATURE$.	has_symptom
+32177241c53d4c44f72fdd6a4df0210400296953	Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, seizures and @DISEASE$.	false
+7570cbc865f65fd853f054c24deaadbe9a8c86be	@DISEASE$ (AS) is a severe neurodevelopmental disorder characterized by mental retardation, @PHENOTYPICFEATURE$ and sleep disturbances.	false
+29f77d1b47f88a86a00f22efc6ef1cfeba98fafe	@DISEASE$ (AS) is a severe neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, seizures and sleep disturbances.	false
+81e050933980831786083316acd74e4fa990e662	Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ecaff4fd4419668adce57401e2badf24a5635b38	@PHENOTYPICFEATURE$ are frequent in @DISEASE$ (AS); however, beside the few studies which have investigated sleep disorders in AS by means of questionnaires, to our knowledge, no systematic polysomnographic recordings have been carried out in AS patients.	has_symptom
+657f607ac1b4c64b9b53554ca8614a70255832e2	@DISEASE$ is a neurological disorder whose symptoms include severe mental retardation, loss of motor coordination, and @PHENOTYPICFEATURE$.	has_symptom
+ba51241b5e5d0e14ea7566fba85a89c95c254ed5	Angelman syndrome is a neurological disorder whose symptoms include @PHENOTYPICFEATURE$, loss of motor coordination, and @DISEASE$.	false
+ee39362f080e739bf1ed05735a0e146674304c61	Angelman syndrome is a @DISEASE$ whose symptoms include @PHENOTYPICFEATURE$, loss of motor coordination, and sleep disturbances.	false
+530dd5985cf1dbc441e46868bb9e56112753462f	@DISEASE$ is a neurological disorder whose symptoms include @PHENOTYPICFEATURE$, loss of motor coordination, and sleep disturbances.	false
+5be115aef86b8b245def1abc9ec7f4fb0f0dc3ea	@DISEASE$ combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and @PHENOTYPICFEATURE$.	has_symptom
+2ea81ec58ee3f7e576d666a234c0b54118d71f25	@DISEASE$ combines severe mental retardation, epilepsy, ataxia, @PHENOTYPICFEATURE$, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance.	false
+e200becff43e0bb85caf619cbde1f9f7fe0877c9	@DISEASE$ combines @PHENOTYPICFEATURE$, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance.	false
+43d638f0800a5f060543edfb961dd501b1fa999d	Angelman syndrome combines severe mental retardation, epilepsy, ataxia, @PHENOTYPICFEATURE$, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and @DISEASE$.	false
+91d314c699ac48319165a86ffbd285ff6e636927	Angelman syndrome combines @PHENOTYPICFEATURE$, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and @DISEASE$.	false
+fc5dc97fce28cf6aa84adc6a542575aae6e9c7f6	Angelman syndrome combines severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and @DISEASE$.	false
+2d221f3644e337b006fbf86f0618d5c3f5921147	@DISEASE$ combines severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance.	false
+098d22584b9acb6338226d23eb575ec153be822a	@PHENOTYPICFEATURE$ is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), @DISEASE$ (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC).	has_symptom
+13edcca20b5800608ffa66e24b3a57cf0d0c80c7	@PHENOTYPICFEATURE$ and epilepsy are common in @DISEASE$ (AS).	has_symptom
+76fae34a2b4eaf1d66697998411d82952104b962	@DISEASE$ (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, @PHENOTYPICFEATURE$, and movement disorders.	has_symptom
+a85da83d36308367248b43c52e9acd7c9e50ce13	@DISEASE$ (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and @PHENOTYPICFEATURE$.	false
+4edf022951b310a93653ef7f7199142b49b91e4b	Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d8a4d83d5e077865092c15fc45f351db8227405e	@DISEASE$ (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, mental retardation, language disorder, seizures, @PHENOTYPICFEATURE$, characteristic facial features, and happy demeanor.	has_symptom
+2a45a6f4059fb46d1fc7c4200c3c0c28695ea3ac	@DISEASE$ (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, @PHENOTYPICFEATURE$, mental retardation, language disorder, seizures, sleep disturbances, characteristic facial features, and happy demeanor.	false
+75c689532f6dfa8ba69a4af349b9dbcff386accd	@DISEASE$ (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, @PHENOTYPICFEATURE$, language disorder, seizures, sleep disturbances, characteristic facial features, and happy demeanor.	false
+911da0768890f918be9d93594b9d3602c22cc8c9	Angelman syndrome (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, @PHENOTYPICFEATURE$, mental retardation, language disorder, seizures, @DISEASE$, characteristic facial features, and happy demeanor.	false
+3a651be15034dc6fc0fb44cb420a80d90d036118	Angelman syndrome (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, @PHENOTYPICFEATURE$, language disorder, seizures, @DISEASE$, characteristic facial features, and happy demeanor.	false
+e1e31c6c2b3425128abe5ac4a6c7f746645bcbdb	Angelman syndrome (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, mental retardation, language disorder, @PHENOTYPICFEATURE$, @DISEASE$, characteristic facial features, and happy demeanor.	false
+8f4e248f3dcf0a0f13a5ac756da71915b58e9de1	@DISEASE$ (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, mental retardation, language disorder, @PHENOTYPICFEATURE$, sleep disturbances, characteristic facial features, and happy demeanor.	false
+6b46ba9afb906ef4b7e29c94a904570aeb3899c3	@DISEASE$ (AS) is a severe neurodevelopmental disorder with electroencephalographic (EEG) abnormalities and @PHENOTYPICFEATURE$.	has_symptom
+9fc8a1ae5daae820cd41db85664b710bf3301815	@DISEASE$ resulting in pituitary gland insufficiency and coma in an adult with @PHENOTYPICFEATURE$ and severe challenging behavior.	has_symptom
+60663af6a9c012efd25f4ecf5913ac186afe02d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	has_symptom
+f1099313faaf184b1910e6ec72e9ee43e03479f5	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+668576c9f7266ff38b29d5af576e6fb9e41281fd	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8711eb077c69a6d29e48c0153e9f7e18508110df	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+9f32c1b7d76f6b876850e9eb92427412c5c8a15b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+30a77fcb4a061f1e4f0157e07360c8cca1adff96	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, @DISEASE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+d81e72f3465007d17b8f40c4a2bdb14aafd4c18e	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+80d0b1822b8fd64256655b4a497384187b410941	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+1c354f577d92ddd1ba74c918554c84742a8ef355	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8d9c383256eaecc5f35de990021aea84a2cf07d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+4251dc11d0e687401f80debd158bb20397a7cfd1	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @DISEASE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8a0cecc516a588288a1623561698e1ad711d531a	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+82a36eba222ca9b9d264a8796f15c79cf720b7c1	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @DISEASE$); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+d635628469447c1b56b73cb0ab20dde5e9f3122f	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	has_symptom
+f16e6d19dc8b25d63c0398926a75af1c4f32708a	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+e95142ae54de21cc108e4a69af1e6485aaa1411b	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, acquired microcephaly and ataxia.	false
+00a83a1b68730ad6554915adb45ad7ded173acca	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired @DISEASE$ and @PHENOTYPICFEATURE$.	false
+79d34f30ae8fae128c2e9827f4696f42f3c1908c	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+1dfb28d145d86b213afde38ce89e60a20fcf3425	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+8a51d82c6296a496a0bab7ea12988bf1ae6820f1	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @DISEASE$, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+1742ce9105953e6a324785c5fdaff7f1f723e372	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+4289023646ef2450f20b30157e55d63c8faa4d12	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired @DISEASE$ and ataxia.	false
+034c033ce8cfc4ee4669a40bae93875b5fab5be9	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+d11dfe996774169481733c60e03b6761eaabccb0	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	false
+a426220af8e89b299b2f328ae898797ac3810b23	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+79a97f46625134f61d5d5f965ee462d4c15c272e	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @PHENOTYPICFEATURE$, spasticity, and epilepsy.	false
+2876ee35860556d734342dc263083c2c487506c4	The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, and epilepsy.	false
+a8a132b636759ec34a23af43c05972d5e32b161c	The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized @DISEASE$ is associated with @PHENOTYPICFEATURE$ and intellectual impairment.	has_symptom
+f369034c362dbc711d88ab6d8c1656cd6cf5748f	The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized @DISEASE$ is associated with skin photosensitivity and @PHENOTYPICFEATURE$.	false
+82b72844b68b32b1983196202dd1d8d80a423002	The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ae0c236191869e2edc1ac164ed65b39be11f3972	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, @PHENOTYPICFEATURE$, mental retardation and poor feeding.	has_symptom
+9ba54619a7e3d080b75bad62c4575da3fea5e158	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal @PHENOTYPICFEATURE$, characteristic facies, microcephaly, mental retardation and poor feeding.	false
+68c611f4ecf3ba06daa9407568c9f7f6bb15baab	Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, @DISEASE$, @PHENOTYPICFEATURE$ and poor feeding.	false
+049513a7c936e6ccfb337cf0d7372b23d79a449e	Dubowitz syndrome is a rare hereditary disorder whose main features are intra-uterine and post-natal @PHENOTYPICFEATURE$, characteristic facies, @DISEASE$, mental retardation and poor feeding.	false
+28e20462730638b94be8ff100109bbb92198d913	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal growth retardation, characteristic facies, microcephaly, @PHENOTYPICFEATURE$ and poor feeding.	false
+d645fc75de557fee17e568f24fb68e90a1afcde3	An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal retardation, @PHENOTYPICFEATURE$, sparse hair, toe syndactyly, and characteristic facial appearance is now recognized as the @DISEASE$.	has_symptom
+a8ee481e218a084c79fab635c019a0f789feecfd	@DISEASE$ was described in 1965 as a recognizable syndrome characterized by @PHENOTYPICFEATURE$, short stature, eczema, mild developmental delays, and an increased risk of malignancy.	has_symptom
+3348f37e037239702f9bc32249270ea20b02ecc0	@DISEASE$ was described in 1965 as a recognizable syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, eczema, mild developmental delays, and an increased risk of malignancy.	false
+4ceccb45347dd1f05c076ca74f2f410655e5a988	Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, mild developmental delays, and an increased risk of malignancy.	false
+efbe5d8de21aebc9a5f67a7f17dfb901db7ef45b	Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, eczema, mild developmental delays, and an increased risk of malignancy.	false
+d0604e536c8aec21f65b6b466f2365e2f9849cdd	It is shown that in spite of marked @PHENOTYPICFEATURE$, severe mental deficiency is rare in @DISEASE$ and about half of the patients are mentally normal.	has_symptom
+67131e6dd38c261fb675ac2f038a38157ba4f570	It is shown that in spite of marked microcephaly, severe @PHENOTYPICFEATURE$ is rare in @DISEASE$ and about half of the patients are mentally normal.	false
+7659faa2f2bcd131b682cdf4b24a58e4e99f1773	It is shown that in spite of marked @DISEASE$, severe @PHENOTYPICFEATURE$ is rare in Dubowitz syndrome and about half of the patients are mentally normal.	false
+89232ef79298e173b72ed3a100ab7739184b8ffa	Some cases of syndromal @PHENOTYPICFEATURE$ may be associated with normal intelligence including some "primordial dwarfs," children with @DISEASE$, FAS, mild SC-Roberts syndrome, and an occasional Brachmann-de Lange individual.	has_symptom
+a1b6021b0e9a7f75a24a93726e184173e2f6dd8b	We report a patient presenting with @PHENOTYPICFEATURE$, dysmorphic features, and intellectual disability with a tentative diagnosis of @DISEASE$.	has_symptom
+14d99756ac37aca6d2df00c110d1b2e49bacf61f	@DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, craniofacial abnormalities, eczematous skin rash, delayed skeletal maturation, and shortness of stature.	has_symptom
+1c23e9b94fc324ac19979aac80826abd666f56ea	@DISEASE$ is a rare genetic condition characterized by @PHENOTYPICFEATURE$, dysmorphic facial features and delayed general growth.	has_symptom
+483e91e4de9e8d11f039b58aa2baec949bfa5f6e	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, @PHENOTYPICFEATURE$, distinct facial dysmorphism, and psychomotoric retardation.	has_symptom
+0e36cf2dddf9d30470107d31246ad5bb7c57a55e	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+6a19d58d267a24886a9a71fb43b07fb2d2cbd03a	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, distinct facial dysmorphism, and psychomotoric retardation.	false
+09b01df6b467c7ab44afc7a34ae8209556675a45	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, and psychomotoric retardation.	false
+ede3f298802a3cc7373dd10fd59891205ee53b3e	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by @DISEASE$, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+3e7fadd7e83fcf1958174c70c08391cc934335bc	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, and psychomotoric retardation.	false
+825ddd83575fbd161c9db096702959056ea91620	Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, @DISEASE$, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+f9baa466d1e3cce1dccd98a395c983728f3ddb21	We report the psychological status of ten people with the @DISEASE$, an autosomal recessive condition characterized by intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$, and high-pitched hoarse voice.	has_symptom
+9dc7fdbc410102376e779ad856400d5df715f027	A 16-years-old male with a history of @DISEASE$ and a recent diagnosis of Crohn's disease was admitted to the hospital because of abdominal pain, nonbloody diarrhea, weakness, and @PHENOTYPICFEATURE$.	has_symptom
+49a575c1f4f249f147cbd95a8a1814f569604889	A 16-years-old male with a history of Job's syndrome and a recent diagnosis of Crohn's disease was admitted to the hospital because of @PHENOTYPICFEATURE$, nonbloody @DISEASE$, weakness, and fever.	false
+9aceb2594e1f89a294fa83deac4a61c909c893f9	A 16-years-old male with a history of Job's syndrome and a recent diagnosis of Crohn's disease was admitted to the hospital because of @PHENOTYPICFEATURE$, nonbloody diarrhea, weakness, and @DISEASE$.	false
+59eef07c54330bef272f3385aeface862dfab062	A 16-years-old male with a history of @DISEASE$ and a recent diagnosis of Crohn's disease was admitted to the hospital because of @PHENOTYPICFEATURE$, nonbloody diarrhea, weakness, and fever.	false
+4cc5ae5ba0c9b12107168f02b92ab2ac18f71542	A 2-year-old Omani child with @DISEASE$ (HIES) had a 5-week illness characterized by @PHENOTYPICFEATURE$, heart failure and acute mitral regurgitation.	has_symptom
+db14591a7a0e7b423b60fe981377be5bd26cacb0	A 2-year-old Omani child with hyperimmunoglobulin E syndrome (HIES) had a 5-week illness characterized by @DISEASE$, @PHENOTYPICFEATURE$ and acute mitral regurgitation.	false
+4974289eccbdda20437aa29f1f9f51866ac4280a	A 2-year-old Omani child with @DISEASE$ (HIES) had a 5-week illness characterized by fever, @PHENOTYPICFEATURE$ and acute mitral regurgitation.	false
+b819b06a848ebfb29e1a0a3e7d84f875d1a4a3d3	A 2-year-old Omani child with hyperimmunoglobulin E syndrome (@DISEASE$) had a 5-week illness characterized by fever, @PHENOTYPICFEATURE$ and acute mitral regurgitation.	false
+8a0cecc516a588288a1623561698e1ad711d531a	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	has_symptom
+1c354f577d92ddd1ba74c918554c84742a8ef355	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	has_symptom
+714df51e8e3f667581ea9bc77d289dd5f5fc4fc3	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent @DISEASE$, periodic confusion, recurrent headaches).	false
+60663af6a9c012efd25f4ecf5913ac186afe02d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+9d4f78e077a40d9fe6770302c7018fae3ccc4f82	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@DISEASE$, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+1275eddc3dc487c920ee77f74759b8d1d9859dc4	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (@DISEASE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8711eb077c69a6d29e48c0153e9f7e18508110df	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+ba480271d2c6ffa8dc24395d9161c71fe6a02d1b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+d81e72f3465007d17b8f40c4a2bdb14aafd4c18e	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+8d9c383256eaecc5f35de990021aea84a2cf07d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+6105d2fca3213d4e824b65e2169a64c6791f29ce	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @DISEASE$, periodic confusion, recurrent headaches).	false
+2e092a5e571f12a9b11ac8ef089447a23f8ebc81	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+3fa4967615c1b90e5c1e605c2897244900d38b11	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, @PHENOTYPICFEATURE$ and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	has_symptom
+e834f35d7c221a978e73d0edc3d61e9972e3b5ab	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (@DISEASE$) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+fb07e22a5fbf9dd9425e68564d3f891793021e92	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, @DISEASE$ and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+54f8ca2d7e86c7f6a9a0c64709b491a46bb1c4fc	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe @DISEASE$ delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+deae074a6d621e3d3802785a1d8364793608f0a6	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of @DISEASE$: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+b2ea79e815d33bc842de9a923f42bd058b9462b4	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+1dfb28d145d86b213afde38ce89e60a20fcf3425	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and @PHENOTYPICFEATURE$.	has_symptom
+d635628469447c1b56b73cb0ab20dde5e9f3122f	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	false
+79d34f30ae8fae128c2e9827f4696f42f3c1908c	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+f0f796303899f457d403f6762dbcb82f359ab045	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	false
+c4ed2802f0500bf44b3f0f255ba08508753a624e	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and @DISEASE$.	false
+ab865dc278b1bb5f70993ed253745fccb0cbd832	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired @DISEASE$ and ataxia.	false
+1742ce9105953e6a324785c5fdaff7f1f723e372	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+4289023646ef2450f20b30157e55d63c8faa4d12	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired @DISEASE$ and ataxia.	false
+034c033ce8cfc4ee4669a40bae93875b5fab5be9	Glucose transporter type I deficiency syndrome (@DISEASE$) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and ataxia.	false
+ab775548e7bc6c032cf3d4723097e0b88578788d	Glucose transporter type I deficiency @DISEASE$ (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, @PHENOTYPICFEATURE$, acquired microcephaly and ataxia.	false
+c511dbc8951cd741d0b4062b746744663cd1ecf7	Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by @PHENOTYPICFEATURE$, developmental delay, spasticity, acquired microcephaly and @DISEASE$.	false
+d2cc136f71360011c50bf9ea5d7830e61b1b597a	Glucose transporter type 1 deficiency syndrome (@DISEASE$) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	has_symptom
+3da86cf03dbbb830e9506db6be0eec7f60368487	@DISEASE$ syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	has_symptom
+3ffe2d31493040d6b49c26254edf71c69db2c539	Glucose transporter type 1 deficiency syndrome (@DISEASE$) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	false
+eb143ceec067cc6ef6b49181bdf73543ed0436c5	@DISEASE$ syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	false
+9c0a4c2bf4346549f54bcfa9f429109ebb44637e	Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, @DISEASE$, and ataxia.	false
+f9f6bec5229a2a4479091f72aaa4248b0157d9d7	Glucose transporter type 1 deficiency @DISEASE$ (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	false
+2058173a20575a01d8aff4750ea93a449421a32c	Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and @DISEASE$.	false
+096eff030417139d31a1c6086b47e72389d145ec	This case report describes a 13-year-old boy with a longstanding history of intermittent @PHENOTYPICFEATURE$ who was diagnosed as having @DISEASE$ after the onset of seizures at age 11 years.	has_symptom
+57d73d683175f660e9858195589f252a22f007fb	This case report describes a 13-year-old boy with a longstanding history of intermittent ataxia who was diagnosed as having @DISEASE$ after the onset of @PHENOTYPICFEATURE$ at age 11 years.	false
+d0cdc9e1b07da8ac413a3321b18170b4d5e3bf09	This case report describes a 13-year-old boy with a longstanding history of intermittent @DISEASE$ who was diagnosed as having GLUT1 deficiency syndrome after the onset of @PHENOTYPICFEATURE$ at age 11 years.	false
+79a97f46625134f61d5d5f965ee462d4c15c272e	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @PHENOTYPICFEATURE$, spasticity, and epilepsy.	has_symptom
+a426220af8e89b299b2f328ae898797ac3810b23	The authors describe a 3-year-old female, diagnosed with @DISEASE$, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, @PHENOTYPICFEATURE$, and epilepsy.	false
+16adc0a1e31059dfaf5f765c5c30590532963d8d	The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972?+?3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, and epilepsy.	false
+7e9ed64d29cf460f5afc5f98704f8cdf20c76d63	@DISEASE$ is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile seizure, acquired microcephaly, developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+230d0be7b827ed673ae83933097fdcdd61b67c75	Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile @PHENOTYPICFEATURE$, acquired microcephaly, developmental delay and @DISEASE$.	false
+aaee23dae72c52d66e95cff7d48ea0ecfcddb2b8	Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile @PHENOTYPICFEATURE$, acquired @DISEASE$, developmental delay and ataxia.	false
+cb762814fea7ba55275e53ed305a857fc80d0087	@DISEASE$ is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile @PHENOTYPICFEATURE$, acquired microcephaly, developmental delay and ataxia.	false
+30d400c933153cec9848abc47ff6b73335df8fc1	@DISEASE$ syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, @PHENOTYPICFEATURE$ and acquired microcephaly.	has_symptom
+fbc2342b9de0c1454272f94d5ab4d722c0e57637	Glucose transporter type 1 deficiency @DISEASE$ (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe @PHENOTYPICFEATURE$, developmental delay, ataxia and acquired microcephaly.	false
+fc4d8f486d34b06d4f6b682786166216db60b264	Glucose transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe @PHENOTYPICFEATURE$, developmental delay, @DISEASE$ and acquired microcephaly.	false
+efbbf0902b2f377a5a33fedc423e0de22e6e9ea8	@DISEASE$ syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe @PHENOTYPICFEATURE$, developmental delay, ataxia and acquired microcephaly.	false
+d3c36e2051fc9338bf4f0e987cbf39ab45462f09	Thus, @PHENOTYPICFEATURE$ in @DISEASE$ reflects two different mechanisms.	has_symptom
+d7fc6eb4c6c811314b257a2333f5d8927ba38a44	@DISEASE$ is a rare genetic disorder characterized by overgrowth associated with @PHENOTYPICFEATURE$ and delayed psychomotor development.	has_symptom
+e0d8168727a462d684f259666ea69d0dbdc4e586	@DISEASE$ (cerebral gigantism) is characterized by @PHENOTYPICFEATURE$, global developmental delay, characteristic facial dysmorphology, and a markedly advanced bone age.	has_symptom
+eead103e6c44475b7f9a51fdd23dbf62815057aa	Sotos syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, global developmental delay, characteristic facial dysmorphology, and a markedly advanced bone age.	has_symptom
+65460a8951cd30d0778e9e6b62b24dbae8f9e596	@DISEASE$ is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+e2048a3ef36f26e93b08e0a07b106dc710e85460	Children with @DISEASE$ have growth acceleration, @PHENOTYPICFEATURE$, acromegaloid features and delay in neuropsychomotor development during infancy.	has_symptom
+24ab7a4ef79937ed6dbd7ed23c8c2082c5744953	@DISEASE$ is an overgrowth condition characterized by facial gestalt, @PHENOTYPICFEATURE$, excessive height, and different degrees of developmental delay.	has_symptom
+e63265f3ffb7793e5ef0098089129f3cc35e5bfa	@DISEASE$ is an @PHENOTYPICFEATURE$ condition characterized by facial gestalt, macrocephaly, excessive height, and different degrees of developmental delay.	false
+db686385099551848524cffaf4b6d9ed8b52848a	Sotos syndrome is an @PHENOTYPICFEATURE$ condition characterized by facial gestalt, @DISEASE$, excessive height, and different degrees of developmental delay.	false
+58b0b0a65e56fa40f296c0bd6886cdb0201a9ad8	Sotos syndrome, or @DISEASE$, is a rare genetic syndrome characterized by excessive growth during childhood, @PHENOTYPICFEATURE$, distinctive facial gestalt and learning difficulties.	has_symptom
+0b6071cc680ccd8652ecf60ebaae6b2aa7be790c	@DISEASE$, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, @PHENOTYPICFEATURE$, distinctive facial gestalt and learning difficulties.	has_symptom
+31e5a935db214c765ea1b2cb070754d981eebf1f	In patients with global developmental delay and concomitant @PHENOTYPICFEATURE$, @DISEASE$ is not uncommon.	has_symptom
+44f02caaef926cafdcef2b6e4683341ab6bb32d1	@DISEASE$ is characterized by somatic overgrowth, i.e., @PHENOTYPICFEATURE$ and tall stature.	has_symptom
+dae5558d92d095523e77985ac0a097e3acc4edb6	@DISEASE$ is characterized by somatic @PHENOTYPICFEATURE$, i.e., macrocephaly and tall stature.	false
+5eae67044397854d391044b34fb3899ea0fd0af4	Sotos syndrome is characterized by somatic @PHENOTYPICFEATURE$, i.e., @DISEASE$ and tall stature.	false
+59ba22535483f1c4b8be448ce019a6e38fd26fbb	@DISEASE$ is characterized by overgrowth, @PHENOTYPICFEATURE$, developmental delay and advanced osseous maturation.	has_symptom
+3e1214aec6a83716858e0b6f98bbd7fd550039c9	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, macrocephaly, developmental delay and advanced osseous maturation.	false
+29edbb6bb8b562522711b4b23d803df08ff9b45e	Sotos syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and advanced osseous maturation.	false
+e2dda185c2b62aced9194f4cb86f383b3a88006e	@DISEASE$: Highly variable expression within a family including @PHENOTYPICFEATURE$ in two neonatal cases.	has_symptom
+929995fb8d2f13fb704942457c0d9a5cd8f33dd2	@DISEASE$ (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, @PHENOTYPICFEATURE$, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	has_symptom
+52f1deaf94a19b081c278d813aac21789afff1ab	@DISEASE$ (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with @PHENOTYPICFEATURE$, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	false
+a9607061006e85889f78275dcb8aa4fdca36dc9b	Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant @DISEASE$ that presents in females with @PHENOTYPICFEATURE$, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	false
+607ce8e60b82ffde792a12d210beb64c425c1fb3	Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with @PHENOTYPICFEATURE$, @DISEASE$, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	false
+487bca54fc2c4c69c127b5982aa641946ed3d41d	@DISEASE$ syndrome is characterized by infantile onset @PHENOTYPICFEATURE$, development delay, movement disorders, and acquired microcephaly.	has_symptom
+11db342b6781fd81addf136799e5c2881353fa1c	Glucose transporter type 1 deficiency @DISEASE$ is characterized by infantile onset seizures, development delay, @PHENOTYPICFEATURE$, and acquired microcephaly.	false
+a98300933706ae1407a3824d458001ea5d8d549d	@DISEASE$ syndrome is characterized by infantile onset seizures, development delay, @PHENOTYPICFEATURE$, and acquired microcephaly.	false
+53490aaa1d90664843f82927cd9886acf1ad0f41	Glucose transporter type 1 deficiency syndrome is characterized by infantile onset @DISEASE$, development delay, @PHENOTYPICFEATURE$, and acquired microcephaly.	false
+ce9c7995e46ea2221a124a25f37763abb2d51d98	Three infants presenting with @PHENOTYPICFEATURE$ and hypoglycorrhachia at 2, 4, and 6 weeks of age, which suggests @DISEASE$, are reported.	has_symptom
+eb143ceec067cc6ef6b49181bdf73543ed0436c5	@DISEASE$ syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	has_symptom
+3ffe2d31493040d6b49c26254edf71c69db2c539	Glucose transporter type 1 deficiency syndrome (@DISEASE$) is characterized clinically by acquired microcephaly, infantile-onset @PHENOTYPICFEATURE$, psychomotor retardation, choreoathetosis, dystonia, and ataxia.	has_symptom
+3da86cf03dbbb830e9506db6be0eec7f60368487	@DISEASE$ syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	false
+c65fc7ad11c4f9c578dfb47ef1e2a02914f78f19	Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d9e525fb2e9674aa887f7bfd35ea45e24bba49cb	Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset @DISEASE$, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	false
+d2cc136f71360011c50bf9ea5d7830e61b1b597a	Glucose transporter type 1 deficiency syndrome (@DISEASE$) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	false
+11a125330beb5cdb6c13931dec88d03ca117c829	Glucose transporter type 1 deficiency @DISEASE$ (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and @PHENOTYPICFEATURE$.	false
+e56ba795ad2a66ff3d4dca1a102b0242ea90a21c	@DISEASE$ (Glut-1 DS, OMIM #606777) is characterized by infantile @PHENOTYPICFEATURE$, developmental delay, acquired microcephaly and hypoglycorrhachia.	has_symptom
+fdad07b7e87dae3f407650ee1073232fed5eddf0	An infant with pseudohyperkalemia, hemolysis, and @PHENOTYPICFEATURE$: cation-leaky @DISEASE$ due to a SLC2A1 mutation.	has_symptom
+238aaf84561a711cbaa258a099a934baa3b905a6	Glucose transporter type 1 deficiency syndrome (@DISEASE$), giving rise to impaired glucose transport across the blood-brain barrier, is characterized by infantile @PHENOTYPICFEATURE$, complex motor disorders, global developmental delay, acquired microcephaly, and hypoglycorrhachia.	has_symptom
+4738bfd837090c8ecd6a99ce02adb67b3ec97f5e	@DISEASE$ syndrome (GLUT-1 DS), giving rise to impaired glucose transport across the blood-brain barrier, is characterized by infantile @PHENOTYPICFEATURE$, complex motor disorders, global developmental delay, acquired microcephaly, and hypoglycorrhachia.	has_symptom
+2bcef0724a7d084c080d5839b2c06b3ac01c8b51	In @DISEASE$, complete @PHENOTYPICFEATURE$ control was achieved in 94 % of patients.	has_symptom
+bf7240fa2f4919f2e3ce3d2234ab48a354c7eda1	Monitoring effects of a ketogenic diet in @DISEASE$ without @PHENOTYPICFEATURE$ is difficult.	has_symptom
+fe05bea8779e70b894d10d8d5d269e1a003e4865	@DISEASE$ was suspected in four infants presenting with @PHENOTYPICFEATURE$ and unexplained hypoglycorrhachia.	has_symptom
+b659539a341d895fc2e95cae7e7eac35037b8903	To characterize @PHENOTYPICFEATURE$ types and electroencephalographic features of @DISEASE$ syndrome (Glut-1 DS).	has_symptom
+81e4623dff18a9a0136ac2d9594297ccc6b080b3	We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with @PHENOTYPICFEATURE$, ataxia, and primary lactic acidemia due to partial deficiency in the @DISEASE$ complex.	has_symptom
+558adadd4330f53894a6a8cbb2b73ec6adb0101b	We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with @DISEASE$, @PHENOTYPICFEATURE$, and primary lactic acidemia due to partial deficiency in the PDH complex.	false
+4681719b715de3f33771cfe85fb1265f900ed980	We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with mental retardation, @PHENOTYPICFEATURE$, and primary lactic acidemia due to partial deficiency in the @DISEASE$ complex.	false
+1052a53ce2016412201a2770a6ac84d9354b1ae3	Moreover, it shows that the absence of @PHENOTYPICFEATURE$ should not rule out the diagnosis of @DISEASE$.	has_symptom
+d6861db20121f8660b4876ac5806955a63ed330c	Children with @PHENOTYPICFEATURE$ and chronic diarrhoea: @DISEASE$.	has_symptom
+71f4f8fb84d85baff1f27f2eb04baee4f852fed2	Clinically, @DISEASE$ is characterized by tendon xanthomas, @PHENOTYPICFEATURE$ and progressive neurological deficits.	has_symptom
+88ac6acc49e34fd7bfec2c9a3e0216d1e76da7a5	Left untreated @DISEASE$ is associated with the development of @PHENOTYPICFEATURE$, xanthomas and severe neurological dysfunction.	has_symptom
+0296905cfb656ca7a8828175b7f375e6bb3a380f	To evaluate the prevalence of @DISEASE$ in a patient population diagnosed with early-onset idiopathic bilateral @PHENOTYPICFEATURE$.	has_symptom
+7b8518e377ff2c10372b30c74703c42aed23a75a	@DISEASE$ (CTX) is a rare familiar disease characterized by tendon xanthomas, @PHENOTYPICFEATURE$, cerebellar ataxia, dementia and an elevated serum cholestanol level.	has_symptom
+fd43a882f8be86f35dc59e4298efc66e2d670ad4	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare familiar disease characterized by tendon xanthomas, @PHENOTYPICFEATURE$, cerebellar ataxia, dementia and an elevated serum cholestanol level.	has_symptom
+7524278039f513142b69f43563827a096a832001	Cerebrotendinous xanthomatosis (CTX) is a rare familiar disease characterized by tendon xanthomas, @DISEASE$, @PHENOTYPICFEATURE$, dementia and an elevated serum cholestanol level.	false
+cd7311e9ae3eed46124f0c3635553ca41d387441	@DISEASE$ (CTX) is a rare familiar disease characterized by tendon xanthomas, cataracts, @PHENOTYPICFEATURE$, dementia and an elevated serum cholestanol level.	false
+d7d39363481f7ef04cb4f909041c88908dfa0cc1	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare familiar disease characterized by tendon xanthomas, cataracts, @PHENOTYPICFEATURE$, dementia and an elevated serum cholestanol level.	false
+fd14108a83a65f719c0457819136c1d4f32088f4	@DISEASE$: A cause of @PHENOTYPICFEATURE$ and tendon xanthoma.	has_symptom
+7e0e012562214011e00c5e37ea8259b5a9eefa37	Common findings in @DISEASE$ are tendon xanthomas, @PHENOTYPICFEATURE$ and progressive neurological dysfunction.	has_symptom
+5560784ecab2c0b46588d4ce2690e1e98a8482e3	Cerebrotendinous xanthomatosis (@DISEASE$) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	has_symptom
+da053ce645bfe181d892572afd35f323baab84ac	@DISEASE$ (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	has_symptom
+a1350c12c394a5aa2be0658fd253423847d169f1	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and @DISEASE$.	false
+ed9981e95e4a31f0e2067c6cb27fa889164beb9c	@DISEASE$ (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and cataract.	false
+37d09a9abaa1176526c4c212998757a6eed1fee0	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by @DISEASE$-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and cataract.	false
+c1962f487cb32e04fb606a4717ba6c8f88f00fde	Cerebrotendinous xanthomatosis (CTX) is a hereditary @DISEASE$ characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and cataract.	false
+c976c936c2b546bcdc0841b0d9a95c051a7c622b	Cerebrotendinous xanthomatosis (@DISEASE$) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and cataract.	false
+7606b14634372976d5ff445cd53ffde9ef2e4d7f	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, @DISEASE$, and cataract.	false
+6c87f7689b1507af6458dc76483165fb924b6a8a	Hallmark clinical manifestations of @DISEASE$ include chronic diarrhea, bilateral @PHENOTYPICFEATURE$, tendon xanthomas, and neurologic dysfunction.	has_symptom
+063e115f7efc1a8757c008041968dbdcea3a8bf2	Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, @DISEASE$, and Leber congenital amaurosis) who underwent @PHENOTYPICFEATURE$ surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery.	has_symptom
+aa1fe6faf93e38886492ce8ed852fcfff4f69dcc	Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, @DISEASE$, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and @PHENOTYPICFEATURE$ surgery.	has_symptom
+e4ddcb27df60e0d6cea2b8728a2957bf4ee46715	The patients present with @PHENOTYPICFEATURE$ owing to @DISEASE$ and with severe infections as the result of a combined humoral and cellular immune deficiency.	has_symptom
+c28fa13d380f030272e1606d0ddf069cfb355d39	The cause of @PHENOTYPICFEATURE$ in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - Ollier disease, 1 - @DISEASE$, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional short stature - in other 3 patients.	has_symptom
+0ca154f2b00cf578d662b68269e74bacbb1a5b24	The cause of short stature in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - Ollier disease, 1 - @DISEASE$, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional @PHENOTYPICFEATURE$ - in other 3 patients.	has_symptom
+14252fe420d86e29dffdf77209d09675d14c7b9f	MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of @DISEASE$ in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+909a41fc3a2bb2a53000b6f98ee60cfe47ebbffa	MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of Foix-Chavany-Marie syndrome in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e2ebb3a0e1bec3a12899ee3be8944b48bf155f26	MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of @DISEASE$ in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, @PHENOTYPICFEATURE$ and seizures.	false
+8a36ffcbe23e8f262afe6901d46078bc456101bc	[Intermittent @PHENOTYPICFEATURE$ with hyperpyruvicemia and hyperalaninuria (@DISEASE$)].	has_symptom
+654d0ec926cf359df35abf4216bbc1ac1a516dea	Intermittent @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+880fd72d9032734ed4ba6b7daae698749c37e46d	One male patient with @DISEASE$ showed an acute intermittent @PHENOTYPICFEATURE$ phenotype.	has_symptom
+65035248c141728d561eb85a0b564f3df339c77a	Episodic dystonia was the major neurological manifestation, with other more common features of @DISEASE$, such as hypotonia and @PHENOTYPICFEATURE$, being less prominent.	has_symptom
+4681719b715de3f33771cfe85fb1265f900ed980	We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with mental retardation, @PHENOTYPICFEATURE$, and primary lactic acidemia due to partial deficiency in the @DISEASE$ complex.	has_symptom
+535d625d51fbabe559e16ae4b1d418edc3ad100d	We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with @PHENOTYPICFEATURE$, @DISEASE$, and primary lactic acidemia due to partial deficiency in the PDH complex.	false
+81e4623dff18a9a0136ac2d9594297ccc6b080b3	We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with @PHENOTYPICFEATURE$, ataxia, and primary lactic acidemia due to partial deficiency in the @DISEASE$ complex.	false
+26d74e285063bdc82df8abd81a4fa44c22d42f2e	The phenotypes of patients with @DISEASE$ deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of @PHENOTYPICFEATURE$ with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of seizures or dystonia, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	has_symptom
+a71937e82aad646a80affe98ec8a3bcb49a8e0d5	The phenotypes of patients with PDH deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of @DISEASE$ with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of @PHENOTYPICFEATURE$ or dystonia, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	false
+6169596b9cc0096dd51cb70aaa087ce1b3b91ada	The phenotypes of patients with @DISEASE$ deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of ataxia with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of @PHENOTYPICFEATURE$ or dystonia, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	false
+8f8ef4051ebbd5de53d9c993a988e1a0d4d3dbf1	The phenotypes of patients with PDH deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of ataxia with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of @PHENOTYPICFEATURE$ or @DISEASE$, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	false
+b73b0852293fdc5d873d6cb8a202f4e3d7d39887	Recurrent muscle weakness and @PHENOTYPICFEATURE$ in thiamine-responsive @DISEASE$.	has_symptom
+4854d92571e696486908299c2e9927932857cb33	@DISEASE$ presenting as intermittent isolated acute @PHENOTYPICFEATURE$.	has_symptom
+1765abe36c5c822c79ae3730193960b92f322cb0	In patients with partial @DISEASE$, @PHENOTYPICFEATURE$ has been the most prominent and sometimes the only neurologic abnormality.	has_symptom
+c6d40cd2a5ae6dd7569d702613b6e0649fdb667f	In patients with partial @DISEASE$, cerebellar ataxia has been the most prominent and sometimes the only @PHENOTYPICFEATURE$.	false
+53f00586beed96e66ba7604700e609bf91b9f780	In patients with partial deficiencies of pyruvate dehydrogenase, @DISEASE$ has been the most prominent and sometimes the only @PHENOTYPICFEATURE$.	false
+5210b8847c0429bb4441e33cf004992c70ca9add	@DISEASE$ is one of the most common causes of encephalopathy associated with lactic acidosis and is known to account for congenital lactic acidosis, recurrent @PHENOTYPICFEATURE$, and infantile Leigh syndrome.	has_symptom
+1449ad1ba6a60bb4995a0c3acb5840bb204984d1	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+4242c2a9a4aa7718a92c8d751a86e3d083c971cd	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, @DISEASE$, and growth retardation.	false
+37c4560b87f6449c574f539b28511c74c22d9f31	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+ca53bf9b5f691930810eac260ef9d9be890dbcf7	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor @DISEASE$ anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+6b49c5d06db6dc881983b7bcc0d4f04f64905649	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+a45f301f9457310e517c2c6eee16b547f46f434c	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and @PHENOTYPICFEATURE$.	false
+c5b8ddc806734552c06c2771b057772a83a65ea0	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, @DISEASE$ with minor facial anomalies, genital abnormalities, mental retardation, and @PHENOTYPICFEATURE$.	false
+24ab99168ec3b2d3d32a294a191f7b73b04e92f0	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+9f85c641425156c5418cbbcd96207e792cf2979a	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor @DISEASE$ anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+59cabf6a201a774028de7ad434d1fb9120dd761e	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, @DISEASE$ with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+3468bae98368af5e9677f2e4b6d1d04d7f6be132	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive @DISEASE$; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+57025a16a9561d03a6fa645e8e7a3b6af2d22507	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and @PHENOTYPICFEATURE$.	false
+fa669a8754bd91c65e3779497d5b3b88c694b9cf	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, @DISEASE$, and growth retardation.	false
+46d2d9504cfaf1fad34bcf9b0491d5b98c414836	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive @DISEASE$; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and @PHENOTYPICFEATURE$.	false
+bdd51cd89f4a38b55d1113e14477d6a338ec05ca	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+588e1e36e8602fc77024a5639fecb78a6975b20a	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor @DISEASE$ anomalies, genital abnormalities, mental retardation, and @PHENOTYPICFEATURE$.	false
+26fc30afca2966e8f980f33d43bfd69120dc4875	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+433f5cddd5a3087bda939fb5bd759551e7627e62	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, @DISEASE$ with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+e3b845cd17f5f20c983298fcec04dbe76dd7397c	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive @DISEASE$; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+913a7360e418639b627170429c044cd03f93495b	Acro-cardio-facial syndrome (@DISEASE$) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+5e53bad851c0f637e66d7c3a0c7f7dafb1303e84	Acro-cardio-facial syndrome (ACFS) is a rare @DISEASE$ characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and mental retardation.	false
+b2d827ed96759fffd1ff8c6019243d7ee4fd722f	Acro-cardio-facial syndrome (@DISEASE$) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and mental retardation.	false
+53422f6ed2f1ce91265bb5fba652f6ccfddb1ca5	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, @DISEASE$, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and mental retardation.	false
+b6458f14bbd28bbc4c0ac424cb9e520c458a244f	Acro-cardio-@DISEASE$ (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and mental retardation.	false
+3f7b89ba36d906bf8a46df3d3e294f1a419d9563	Acro-cardio-facial syndrome (@DISEASE$) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and mental retardation.	false
+32678b7bdc8b1166744916e4ff7b08d681e187f5	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (@DISEASE$), @PHENOTYPICFEATURE$, and mental retardation.	false
+a846bded3d89a514c41df29a6136208e89dc1002	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3d1a5f7f2a019146a26a8a334863130672d37e12	Acro-cardio-facial syndrome (ACFS) is a rare @DISEASE$ characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and mental retardation.	false
+61d7639409d9815b1be9fd707eade8d1e73bbc1d	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, @DISEASE$, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and mental retardation.	false
+38c4e1a63581db95aba9e0e0315887a2dfd0ebec	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (@DISEASE$), genital anomalies, and mental retardation.	false
+b284b1cc7ae442717d51e77bedb58543660ae823	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), @DISEASE$ anomalies, cleft lip/palate, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and mental retardation.	false
+9bb1aee2166262eea394b6ff7a5845c4b4ee1cc6	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), @DISEASE$ anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and mental retardation.	false
+45e9dbe74f6fb429ccff3fc78279167aac75dfa4	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and @DISEASE$.	false
+11951ab05fdc6a092b10814fbe80fd5625a90d74	Acro-cardio-@DISEASE$ (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and mental retardation.	false
+59c7e754777ca313b5321c900fbf7803c6be0f7d	Familial dysautomonia (FD, or @DISEASE$) is a rare but fatal autosomal recessive @PHENOTYPICFEATURE$ caused by a point mutation in I-?-B kinase complex associated protein (IKBCAP) gene.	has_symptom
+3f6f62658ae5415e97304100f0c01bbebe8e4531	@DISEASE$ (FD) is a rare but fatal @PHENOTYPICFEATURE$, caused by a point mutation in the IKBKAP gene involved in transcriptional elongation.	has_symptom
+a6374a26ed6d75f7016c506d1087a9581992caac	Having the enriched PNS differentiation system in hand, we show for the first time in human PNS neurons the expression of IKAP/hELP1 protein, where a splicing mutation on the gene encoding this protein causes the @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+6516e77057bd8e09d78d1f5da54651c08997b9e8	EED-associated @PHENOTYPICFEATURE$ (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and intellectual disability (OGID), along with other features similar to Weaver syndrome.	has_symptom
+d669121bb72a3fc0825e554287aac7f8cb8b97a3	EED-associated overgrowth (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and intellectual disability (OGID), along with other features similar to Weaver syndrome.	has_symptom
+f35c579b722f8aac69d6561de9a75a46e24e91f9	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @DISEASE$ and @PHENOTYPICFEATURE$ (OGID), along with other features similar to Weaver syndrome.	false
+4fef9ef3716c52a628e2227e25f325ad24f01bfd	EED-associated overgrowth (@DISEASE$; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @PHENOTYPICFEATURE$ (OGID), along with other features similar to Weaver syndrome.	false
+0d3035c17b3a5df3d3afafc961b55c6c9542a8c0	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @PHENOTYPICFEATURE$ (OGID), along with other features similar to @DISEASE$.	false
+aec6c016b01065b5df554ebcbcde42f7b9136a0d	EED-associated @DISEASE$ (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and @PHENOTYPICFEATURE$ (OGID), along with other features similar to Weaver syndrome.	false
+362cc9ca3a14547e76d79afe8cc8481462ca19ac	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	has_symptom
+1a075f9342d951b8f9c783a70c9dcd7b03749876	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+dedcea3729da3567ca867847c1c6bd3f3bd4dc6c	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+3e1f6dc6823363a8370993f72522d4cad5547af3	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, @DISEASE$, and skeletal anomalies.	false
+f9284c542bbbe8dc00a2f26306543d7609ce4cac	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3c6ee1052fe56795611000068e5b7b431096f7c3	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @DISEASE$, and skeletal anomalies.	false
+93c94e8ca9a49ab774db1e18f13ed86cd9e6f2f6	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising @PHENOTYPICFEATURE$, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, @DISEASE$, and skeletal anomalies.	false
+23593b4b27868e727f5241b9ff3942d47205f6a0	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, @PHENOTYPICFEATURE$ caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+4cda247415e4f433ff427020448dc8baffaad7c3	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+4a0bc1f21f4727dc6b05c5e2e27b63823c8ad0c7	Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, @DISEASE$, and skeletal anomalies.	false
+362024cd43995d25670b060c47b30f3ea911d7a9	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by @PHENOTYPICFEATURE$, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies.	false
+76e935fd9d3ed57cb00d9eb29f12f610d67ea357	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, @PHENOTYPICFEATURE$, neonatal hypocalcaemia, and subtle facial anomalies resembling those of @DISEASE$.	has_symptom
+45f28db53b3baaeed353e28fccbd9b9885cd21c3	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, @DISEASE$, neonatal @PHENOTYPICFEATURE$, and subtle facial anomalies resembling those of velocardiofacial syndrome.	false
+53782d5e54fbf2754214139e34ad87b8c1496b32	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal @PHENOTYPICFEATURE$, and subtle @DISEASE$ anomalies resembling those of velocardiofacial syndrome.	false
+beb7ed6d22da028e1ffb6e3864f7cf663587e5c4	Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal @PHENOTYPICFEATURE$, and subtle facial anomalies resembling those of @DISEASE$.	false
+9382ce4efaac3e267302061536a041d3a6b450d5	Pyruvate dehydrogenase complex (@DISEASE$) deficiency, a major cause of congenital lactic acidemia in children, usually is complicated by @PHENOTYPICFEATURE$, and, in some patients, West syndrome has occurred.	has_symptom
+55cdd9c7039b7588bd5ebf9334c40b0367f560a7	This hypothesis is supported by the fact that the ketogenic diet is the treatment of choice for the glucose transporter protein syndrome and @DISEASE$, both associated with cerebral energy failure and @PHENOTYPICFEATURE$.	has_symptom
+4e86e63171465dabbe155d553b7d4153d00daf73	We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, microcephaly and @PHENOTYPICFEATURE$ and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	has_symptom
+c4e73750ff6edc81c110e5109626cca0dee1f095	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	false
+fac8ce9a62df462153d5403a059a24bea2cf52e8	We have studied two unrelated girls presenting a static encephalopathy with @DISEASE$, @PHENOTYPICFEATURE$ and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+871aaffc9b83a89f161ea1fe557e6b084cdf4bd0	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with spastic quadriplegia, microcephaly and @DISEASE$ and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+e6da31a794bcea7dfc35ef9196b34d3e420ef4df	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with @DISEASE$, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+f50d20ab20e246d771123d8130e66a6cad9a2543	We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, @PHENOTYPICFEATURE$ and seizures and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	false
+c279c1d5499048c22f17d8f737386f0119e3e5ca	We have studied two unrelated girls presenting a static encephalopathy with spastic quadriplegia, @PHENOTYPICFEATURE$ and @DISEASE$ and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+28579cf6ac845f5fd924c1e6cec9cb98baf6c580	We report a novel duplication of PDHA1 associated with a mild phenotype in a 15-year-old boy who was diagnosed with @DISEASE$ deficiency at 4 years of age following a history of @PHENOTYPICFEATURE$ and lactic acidosis.	has_symptom
+07ffbe3c60dfc885b850f2de8cc3655ff92d79ae	Ketogenic diet is the first line therapy for neurological symptoms associated with @DISEASE$ (PDHD) and intractable @PHENOTYPICFEATURE$ in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS).	has_symptom
+6169596b9cc0096dd51cb70aaa087ce1b3b91ada	The phenotypes of patients with @DISEASE$ deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of ataxia with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of @PHENOTYPICFEATURE$ or dystonia, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	has_symptom
+26d74e285063bdc82df8abd81a4fa44c22d42f2e	The phenotypes of patients with @DISEASE$ deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of @PHENOTYPICFEATURE$ with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of seizures or dystonia, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	false
+3d16fb6ca325236ecc479972b365a3d08a05ecd3	The phenotypes of patients with PDH deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of @PHENOTYPICFEATURE$ with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of @DISEASE$ or dystonia, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	false
+dc225fed0d3f3f91c6146a0ae9f853cf90d003cc	The phenotypes of patients with PDH deficiency have been divided into three groups: a neonatal form with severe lactic acidosis, a form observed only in males and characterized by episodes of @PHENOTYPICFEATURE$ with relapses associated with hyperlactataemia, and an infantile form with hypotonia, lethargy, onset of seizures or @DISEASE$, psychomotor retardation, in some cases Leigh-like lesions and mild to moderate hyperlactataemia.	false
+aa33daa14743c50439818e184b30f78f37d3b820	Expert commentary: The role of KD in reducing @PHENOTYPICFEATURE$ activity in some mitochondriopathies and its efficacy in @DISEASE$ is known.	has_symptom
+03e128d431467ecf6b1af792bb4066466137db07	It is a treatment of choice for @PHENOTYPICFEATURE$ associated with glucose transporter protein deficiency syndrome (ie, De Vivo disease) and @DISEASE$.	has_symptom
+d276743957f936985fd7be585afa97aa2a05b002	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, and intellectual disability.	has_symptom
+635c077b11a7f58649d6a28e3fb1023ccdc88434	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, brachydactyly, dysmorphic facial features, and @PHENOTYPICFEATURE$.	false
+33b37f03f7ad923d7527545d0e92c39ae51cfe24	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, brachydactyly, @PHENOTYPICFEATURE$, and intellectual disability.	false
+3fcb73293c41abddbe76c336aafd303a8cbc825e	Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, @DISEASE$, @PHENOTYPICFEATURE$, and intellectual disability.	false
+9a827e25cdda3bdc3cf6b019410cc7e9b77b8aee	Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, @DISEASE$, dysmorphic facial features, and @PHENOTYPICFEATURE$.	false
+fb46e53456fc33f2d6fe394754d70a19cc5b67c7	Two of the three children had skeletal anomalies resembling @DISEASE$: @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, and intellectual disability.	false
+40b0aab101851e18050ab1df6498fb11ffbbec4f	Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: @PHENOTYPICFEATURE$, @DISEASE$, dysmorphic facial features, and intellectual disability.	false
+6323dec21c2cc23042ca6fd09f605f13b5828d2b	Here we report of a girl with @DISEASE$, severe mental retardation, agenesis of corpus callosum, @PHENOTYPICFEATURE$ vermis and horseshoe kidney.	has_symptom
+41e60798eedd3ef58f46cf7fa93aa46c09f2d6f3	Here we report of a girl with @DISEASE$, severe mental retardation, @PHENOTYPICFEATURE$, hypoplasia of cerebellar vermis and horseshoe kidney.	false
+d005f49ab34df5be588817e6e993367fbd74319a	Here we report of a girl with @DISEASE$, @PHENOTYPICFEATURE$, agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.	false
+f6ceac375186d0e2fd05c2690fab531c08724c21	Here we report of a girl with TAR syndrome, severe mental retardation, @PHENOTYPICFEATURE$, @DISEASE$ vermis and horseshoe kidney.	false
+d6b1ec961c5ad5ddd5ffdd1689ae02eca5635f66	Here we report of a girl with TAR syndrome, @PHENOTYPICFEATURE$, agenesis of corpus callosum, @DISEASE$ vermis and horseshoe kidney.	false
+11caa04dcfcd9615a51a957af5b0baead2576b1e	@DISEASE$ is characterized by the presence of cicatricial alopecia on the scalp, keratosis pilaris in the skin of trunk and extremities, and non-cicatricial @PHENOTYPICFEATURE$ in pubis and axillae.	has_symptom
+539adf0b8bbbab8b005f42144a3101e5755405f9	Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-"@PHENOTYPICFEATURE$" syndromes and the more severe @DISEASE$.	has_symptom
+204b07c0df224e76632cb1421134bdc71378591f	@DISEASE$: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+0999fdca8890fc0f54386015ae2079bb8faf3846	@DISEASE$: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, @PHENOTYPICFEATURE$, and mental retardation.	false
+6ba50366fb4dcfd537a738d17b70e642a592b4a0	Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$.	false
+a79ccdedece47d1b6326c652f3f959ece251a042	@DISEASE$: a new condition comprising absent patellae, scrotal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, and mental retardation.	false
+7c3b36fcf59fbf632e362d1f07b9be78279168a0	Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ac34928ac4ace11c9be6f17ad0860d085529016b	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and @PHENOTYPICFEATURE$.	has_symptom
+09fad0d3699477ba7d8a977fb84805b9dd56d4ab	Genitopatellar syndrome is a recently described disorder with characteristic facies, @PHENOTYPICFEATURE$, absent patella, flexion contractures, microcephaly, renal anomalies, and @DISEASE$.	false
+b5ebe389d1ce1b6131794d217e007f53cced2ce1	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, @PHENOTYPICFEATURE$, renal anomalies, and @DISEASE$.	false
+b32182538048ce53d1c23b5d1de010e4857893e1	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, @PHENOTYPICFEATURE$, renal anomalies, and mental retardation.	false
+b85b742e336ec981b1d5a057af903fd324d7ebfe	@DISEASE$ is a recently described disorder with characteristic facies, @PHENOTYPICFEATURE$, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation.	false
+9ceaa6e7c0e239c0ea6aa1e25642431b388f0b05	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, @PHENOTYPICFEATURE$, microcephaly, renal anomalies, and mental retardation.	false
+d95535cfaacbd80423d813e2da5f2bdef66b381b	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+edcab7afbed75d648d76c27b4d2743b9a2b78895	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, @PHENOTYPICFEATURE$, microcephaly, renal anomalies, and @DISEASE$.	false
+3877dd250f7ffe7bbc1042d407c96bee11cfedbc	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, @PHENOTYPICFEATURE$, and mental retardation.	false
+9eec291251231ed7163b355c65518f4188eed7d5	KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis @PHENOTYPICFEATURE$ syndromes (SBBS) and in the more severe @DISEASE$ (GPS).	has_symptom
+2ca73f155ab555d1ac6495dd1729687708f7d17a	@DISEASE$ (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe @PHENOTYPICFEATURE$.	has_symptom
+570c9e61dd5a3aeb1b525519f9d57a5da3d57335	Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external @PHENOTYPICFEATURE$ and severe @DISEASE$.	false
+a40d68779cbcf3c74c0e52f1f2f3e6940d5dee82	@DISEASE$ (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external @PHENOTYPICFEATURE$ and severe intellectual disability.	false
+aae4466a89afe7d2ecb78ce54db96328a6cc84b2	Genitopatellar syndrome (@DISEASE$) is a rare disorder in which patellar aplasia or hypoplasia is associated with external @PHENOTYPICFEATURE$ and severe intellectual disability.	false
+30565a06a6332571ce5da1fdcfd2d1428be1c8a6	@DISEASE$ is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and @PHENOTYPICFEATURE$.	has_symptom
+577ac198ecad27cccc9acd15809b9b66016658e4	@DISEASE$ is characterized by absent/hypoplastic patellae, genital and renal abnormalities, @PHENOTYPICFEATURE$, and mental retardation.	false
+b5f63cfee0cef410b1c61013bbee5ec2d75565c4	Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d718392cf3dc08e078cbb0261122a34833bf680d	A group of unrelated patients (n=82), characterized by @PHENOTYPICFEATURE$, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, @DISEASE$/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study.	has_symptom
+7ade540cbe0e72e4aa5454c00d0770dfce7d1d50	@DISEASE$ and III are caused by mutations in the GNPTAB and GNPTG genes, and patients with these diseases are characterized by @PHENOTYPICFEATURE$, skeletal abnormalities, and developmental delay.	has_symptom
+bdca0776a4d70e858e9097958fd794c36bfcf38d	Mucolipidosis II and III are caused by mutations in the GNPTAB and GNPTG genes, and patients with these diseases are characterized by @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay.	false
+6e1251d327d6bac1be14348762c31132a69329fd	@DISEASE$ and III are caused by mutations in the GNPTAB and GNPTG genes, and patients with these diseases are characterized by short stature, @PHENOTYPICFEATURE$, and developmental delay.	false
+442750bf69cf392b6b56134384fc3bc67f205931	To our knowledge, this represents the first report of a family in which bilateral premature @PHENOTYPICFEATURE$ appear to be inherited with @DISEASE$.	has_symptom
+0fdc4ce15c7defcac237c1b71dec1f34888085cd	In a family with @DISEASE$ affecting five members in three generations, bilateral premature @PHENOTYPICFEATURE$ have developed in four of the five affected individuals.	has_symptom
+7c9dfcaf76864e0d7ad655574169bf909fd3f13c	Premature @PHENOTYPICFEATURE$ in a family with @DISEASE$.	has_symptom
+aa6240776769a3f481cbe0003a0c801b040c0de2	An acylcarnitine profile assay revealed LCHAD/@DISEASE$ in a 45-year-old man with a history of high myopia, bilateral decreased vision, episodic rhabdomyolysis, and @PHENOTYPICFEATURE$.	has_symptom
+23d117f0efab26693e942aae9d1efde089c34a72	@PHENOTYPICFEATURE$, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with @DISEASE$.	has_symptom
+c784eb18aa171019d3b45be457c75d71a4c7b61b	@DISEASE$, a recently identified disorder of fatty-acid oxidation, may show characteristic features such as @PHENOTYPICFEATURE$, pigmentary retinopathy, and acute fatty liver degeneration in pregnant women with an affected fetus.	has_symptom
+c627f85e4faef625cabcad4020d22d449c0fef6d	The etiology of the severe @PHENOTYPICFEATURE$ of @DISEASE$ may result from the unique metabolite, 3-keto-acyl-CoA, after conversion to a methylketone via spontaneous decarboxylation.	has_symptom
+6333ab04a2b9958c35d5221a2b052a5ee0611db1	A case of diabetes insipidus occultus hypersalemicus following surgery for @DISEASE$ with acute progressive hypernatremia, hyperosmolar @PHENOTYPICFEATURE$ and hypokalemic paralysis].	has_symptom
+bec745b441e2060dc58b1fd13578f2047446a10f	Despite major medical advances, such as the introduction of the rubella vaccine and prolonged postnatal therapy of infants with @DISEASE$, intrauterine infections remain important causes of @PHENOTYPICFEATURE$, vision loss, and behavioral or neurologic disorders among children worldwide.	has_symptom
+f6f35edc67dd36d98d86fc784f83ec5d8d3b8493	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and anosmia.	has_symptom
+f6f35edc67dd36d98d86fc784f83ec5d8d3b8493	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and anosmia.	has_symptom
+4d7c1b7ff743189e97ef5006cba530433970a07f	@DISEASE$ (KAL) combines @PHENOTYPICFEATURE$ and anosmia.	has_symptom
+a27e8dfccc4a636d19128fd845cde96c72307c40	The prevalence of digenic mutations in patients with normosmic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+817cf2479d9df9ecfde3085b6adab10f2c6917f7	@DISEASE$ (KS) combines @PHENOTYPICFEATURE$ and anosmia.	has_symptom
+39de02909dbbddec03aff38365b691b14ea97db1	Molecular genetics of isolated @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+44d57858594f354b9ac3eef34a6605ac1de40aae	WDR11 was linked to idiopathic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+b1a131c5f4443801bf2b3e6eea5a879d78a44ab2	@DISEASE$ (KS) usually combines an anosmia and a @PHENOTYPICFEATURE$.	has_symptom
+6d958c3fad81328fc132bc3ca7b4217dff978f84	@DISEASE$ is a developmental disease that combines @PHENOTYPICFEATURE$ and anosmia.	has_symptom
+f6f35edc67dd36d98d86fc784f83ec5d8d3b8493	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and anosmia.	has_symptom
+369a8d6af5e9daede353a9407352cfa052bc57b9	MRKH syndrome may be isolated (type I @DISEASE$) or associated with renal, cardiac, and skeletal anomalies, @PHENOTYPICFEATURE$, and auditory defects.	has_symptom
+ee8077f7777e7780f34ea03aad64763481089452	@DISEASE$ may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, @PHENOTYPICFEATURE$, and auditory defects.	has_symptom
+f70dbf303ccdd9157d48e601bb1374ecd4b88ab7	MRKH syndrome may be isolated (type I @DISEASE$) or associated with renal, cardiac, and @PHENOTYPICFEATURE$, short stature, and auditory defects.	false
+e01f0f55a88b4daf6e4b475c5b96ed3a4761c2e9	@DISEASE$ may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and @PHENOTYPICFEATURE$, short stature, and auditory defects.	false
+42dfff0047e5593e7a7529295da08234c9873cab	MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and @PHENOTYPICFEATURE$, @DISEASE$, and auditory defects.	false
+f976be6acb05caa7a4f9c7d5d515fbcf1e9f48a0	@PHENOTYPICFEATURE$ and visual loss in @DISEASE$.	has_symptom
+6b8d8e903ca99c7fb3ad6bc4928c8eefab5c82e8	@DISEASE$ and @PHENOTYPICFEATURE$ in craniometaphyseal dysplasia.	false
+5ab7b6879061dd253e76c2584540636f2b26863f	Optic atrophy and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+85af5377e62b8d790f77c28b0fdc0a967e382d94	[Case of @DISEASE$ with deformity of the face and @PHENOTYPICFEATURE$ in siblings].	has_symptom
+dcbc741b7ea401a888ec7b45de199c3db634b9de	@DISEASE$, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+f2b581d16c7a4f531a326cbd49cf2aebe664d7bc	The syndrome of coeliac disease, epilepsy and @PHENOTYPICFEATURE$ is a rare complication of @DISEASE$.	has_symptom
+35ea07517ba7e59187ad07098582872d2d3c0e79	The syndrome of @DISEASE$, epilepsy and @PHENOTYPICFEATURE$ is a rare complication of coeliac disease.	has_symptom
+d11dd16ca3c3387cc4064083a438095d183d3715	@DISEASE$ with @PHENOTYPICFEATURE$ presents also in adulthood with atypical clinical manifestations.	has_symptom
+c2d8b88910d637716c6834264879ba75cdefab16	@DISEASE$, posterior @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+85c6463e7e2ad36639dd6dec635ee95dcefa9917	@DISEASE$, epilepsy, and @PHENOTYPICFEATURE$.	has_symptom
+adcd9d5084b2042d40ce0e4f86fffd1d7e6fbbe8	@DISEASE$ with @PHENOTYPICFEATURE$ and silica deposits: x-ray spectroscopic findings, an autopsy study.	has_symptom
+ed3e836521ba95728ce2e9772b042982bb80c00c	@DISEASE$, folic acid deficiency and epilepsy with @PHENOTYPICFEATURE$.	has_symptom
+bb9d97eec56bacca868082eacfb2059ecbcd919d	@DISEASE$, epilepsy, and @PHENOTYPICFEATURE$: association with TG6 autoantibodies.	has_symptom
+a57e3d1370d6a5193bd4da6fcbd0ef138e75b088	@DISEASE$ associated with epilepsy and @PHENOTYPICFEATURE$: report of two patients.	has_symptom
+97dd63249f62f1aa61518b5c329048c90f9cf8f7	[@DISEASE$, @PHENOTYPICFEATURE$ and epilepsy syndrome].	has_symptom
+4de5b6c27e699b84f8d848d818c9a2aa50a1c4b6	In the supratentorial compartment, astrocytoma (nos), protoplasmic astrocytoma, anaplastic astrocytoma, and ependymoma were more frequently associated with @PHENOTYPICFEATURE$ than was @DISEASE$.	has_symptom
+353f2ab9a600252b29db859c0b820de01226079a	A male infant is described with severe @PHENOTYPICFEATURE$ and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the @DISEASE$.	has_symptom
+fda412950b99d96238197c27c64cb008d8e71514	@DISEASE$ is characterized by hyperphalangism with bilateral deviation of the index fingers and @PHENOTYPICFEATURE$ with or without cleft palate.	has_symptom
+3cc24c5f4fb2c7f7f855c3c3dfdacce1dc7674d2	@DISEASE$ is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without @PHENOTYPICFEATURE$.	false
+25ce14344d4a54ed9084d9986d7f791056901266	Catel-Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and @DISEASE$ with or without @PHENOTYPICFEATURE$.	false
+c66be7bfb0c9849801cae494097da1983f0edc3f	We describe a 3-month-old male infant with cleft palate, glossoptosis, @PHENOTYPICFEATURE$, and bilateral clinodactyly, an association which is characteristic of @DISEASE$.	has_symptom
+41ce19e7b57495f8a9d8060a940c39237ff54a70	We describe a 3-month-old male infant with @PHENOTYPICFEATURE$, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of @DISEASE$.	false
+ed81790f14d05a946868dbe0afdc7009edf70ac8	We describe a 3-month-old male infant with @PHENOTYPICFEATURE$, glossoptosis, @DISEASE$, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome.	false
+9cc77226242165ecc9f84af3f342cb1960f924c6	@DISEASE$ is a rare syndrome characterized by polyhydramnios, fetal overgrowth, @PHENOTYPICFEATURE$, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor.	has_symptom
+d18ce8ed8e6eb7fbc304b6494c3058ada93fe131	Here we report on a newborn with a prenatal history of polyhydramnios who presented with nephromegaly, hypotonia, macrosomia, @PHENOTYPICFEATURE$, cholestasis and characteristic ultrasonographic and computed tomographic appearances of renal abnormalities that are observed with @DISEASE$.	has_symptom
+f1d7bb7223de25ec328d256631e5866be0296722	@DISEASE$ is a rare entity characterized by hypotonia, @PHENOTYPICFEATURE$, gigantism, and visceromegaly including nephromegaly.	has_symptom
+c2330781424887c6eaa802521acbf4ad60c2b226	@PHENOTYPICFEATURE$ (@DISEASE$) coincidental with systemic lupus erythematosus.	has_symptom
+801772b9c75fefe0014f87858302b9cf5ec1b182	[@PHENOTYPICFEATURE$ or @DISEASE$].	has_symptom
+885ea08c87ec363596e43eaf98062a3e909ce534	Auriculocondylar syndrome (@DISEASE$) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, @PHENOTYPICFEATURE$, and a characteristic "question-mark" ear malformation.	has_symptom
+7b56c64b1e38c8933dcaca3ad57c1ac51a857000	@DISEASE$ (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	false
+591a58e8c778b6308802c37811f92c51f851dfa7	Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial @DISEASE$ characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	false
+ac668d8dbf2deb768d9adab4024af4bd77b7abf2	Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, @DISEASE$, and a characteristic "question-mark" ear malformation.	false
+faa1744c48e25dc6f7c8e128866ceb07336e4dd1	Auriculocondylar syndrome (@DISEASE$) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable @PHENOTYPICFEATURE$, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation.	false
+2c15bca9bdeb60c5019c9d8773039041a82ffaa0	They include Holt- Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, @DISEASE$ deficiency/TBX19 and @PHENOTYPICFEATURE$ with ankyloglossia/TBX22.	has_symptom
+e72a91f39dc2030158d152b73a4dabfb71e9f1b5	This article focuses on a subgroup of craniofacial dysmorphologies, covering these three main inheritance patterns, that are being studied using molecular biology techniques: DiGeorge syndrome, Treacher Collins syndrome, Greig cephalopolysyndactyly syndrome, @DISEASE$, amelogenesis imperfecta, and X-linked @PHENOTYPICFEATURE$ with ankyloglossia.	has_symptom
+ff9b4ce8b53bfe573bf2f539e249aec62b632d03	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @PHENOTYPICFEATURE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	has_symptom
+8e6493a6bd590c3927cf8e5c58ce005fd23a2f14	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+8d5391fa67dbeb4122636f4734096d9147194245	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+0bb87a4190a1ce737551dedad0275ceec82f4a6a	We report on a patient with severe pre- and post-natal @PHENOTYPICFEATURE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+a6a340d6d18a96020cf04769842931be985597a1	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+c590922cdd9f6f157b41b8c541fc7c42817e73c2	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+c6d83e89b7db9af4629a594501816c8eb2844c5c	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+830d90d9e6e7efd492c513cb7e29be1a25eaa059	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and @DISEASE$ due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+7cda490be2112a158df09e1ef3ffe65d86e13481	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and @DISEASE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+ff9393efa1a574326cb0693501654bf1b5dd79bf	We report on a patient with severe pre- and post-natal @PHENOTYPICFEATURE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+075519d4bb835af5d0684d9bc06a83bd67204cf0	We report on a patient with severe pre- and post-natal @PHENOTYPICFEATURE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @DISEASE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+4a8377d9ccdb9c8e31e5de515f2fa11104e7a8cc	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+0e39ce465b3dd16c161cc92c7c7825916b256621	We report on a patient with severe pre- and post-natal @PHENOTYPICFEATURE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+cf19cf627ddb9048c49dc0ea5c19ce01850c9128	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+a3b8a2e406cb8d7534dada46e2837cfc0ebf2062	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, @DISEASE$, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+8d8e9aa5e29977daa6d3ca928468759c6f6b6b98	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, @PHENOTYPICFEATURE$, unusual face with marked micrognathia and @DISEASE$, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+0557aba7fa3b78806ea0d4dc388130bf6b166a8c	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and @DISEASE$, minor @PHENOTYPICFEATURE$, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age.	false
+f10b128f8a1f392a60bceb205a05d2bea5cf85d3	@DISEASE$ (WHS) is a rare microdeletion syndrome associated with a characteristic facial appearance, @PHENOTYPICFEATURE$, psychomotor delays, and various major malformations of internal organs; many medical complications have been described (feeding difficulties, epilepsy, hearing problems).	has_symptom
+81366f44a3c3cff2a03b6363f230fdf7795d4827	The objective was to describe a case of bilateral cochlear implantation in a 59-year-old man with hearing and @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+978833e1877791a7f63f87727273ad1b6e57d416	Leprechaunism (@DISEASE$) is an autosomal recessive disorder characterized by hyperglycemia, extreme insulin resistance, dysmorphic features, @PHENOTYPICFEATURE$, and early death.	has_symptom
+1fe8abe27ee8b6e7cebfcd578b2d66ee90de4392	Main symptoms of the @DISEASE$ are increased birth weight, early overgrowth, @PHENOTYPICFEATURE$, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay.	has_symptom
+551f434b1f2862865ef61da6a5e28dfc8a76e8fb	Main symptoms of the Weaver syndrome are increased birth weight, early @PHENOTYPICFEATURE$, @DISEASE$, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay.	false
+accb26e1a82cf807ab11aa3a07e4aed8e9ad1392	Main symptoms of the @DISEASE$ are increased birth weight, early @PHENOTYPICFEATURE$, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay.	false
+cd86af8971e7292ceb1036302821406518e861f5	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified overgrowth/mental retardation and @PHENOTYPICFEATURE$/mental retardation, harbored NSD1 mutations.	has_symptom
+caf0c2fd86139eb2d5456449c9c7ec9363d75cf2	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/@PHENOTYPICFEATURE$ and @DISEASE$/mental retardation, harbored NSD1 mutations.	false
+e6521a6ea97ebe12f48ad6885067f54f683187cf	In contrast to the high mutation detection rate in @DISEASE$, none of the patients with Weaver syndrome, unclassified overgrowth/@PHENOTYPICFEATURE$ and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+9b9179269209e1a44c41d9e9e2f1d671f4be9e24	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified @PHENOTYPICFEATURE$/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+3a5fdaa7267bb2dcb4c69222a3891e301bab538d	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified overgrowth/mental retardation and macrocephaly/@PHENOTYPICFEATURE$, harbored NSD1 mutations.	false
+075f2b390e916b4249ed7ea6910da9aaed9619ca	In contrast to the high mutation detection rate in @DISEASE$, none of the patients with Weaver syndrome, unclassified @PHENOTYPICFEATURE$/mental retardation and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+3612ea4f5d3cd1a915556eb973725744025ec438	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified @PHENOTYPICFEATURE$/mental retardation and @DISEASE$/mental retardation, harbored NSD1 mutations.	false
+8c53ae46fb92e2f8b8ed212e0f08f8e32a6426af	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with @DISEASE$, unclassified overgrowth/@PHENOTYPICFEATURE$ and macrocephaly/mental retardation, harbored NSD1 mutations.	false
+0787851dcfd1d92adc71201ee4ed8f0e8f8b84d0	In contrast to the high mutation detection rate in Sotos syndrome, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and @DISEASE$/@PHENOTYPICFEATURE$, harbored NSD1 mutations.	false
+b30279bccf27b827f6e8cc507a2625b9cb79152d	In contrast to the high mutation detection rate in @DISEASE$, none of the patients with Weaver syndrome, unclassified overgrowth/mental retardation and macrocephaly/@PHENOTYPICFEATURE$, harbored NSD1 mutations.	false
+5a3a09c02d73bce189142435064291788a8e742b	@DISEASE$ (WS) is a rare congenital disorder characterized by generalized overgrowth, @PHENOTYPICFEATURE$, specific facial features, accelerated bone age, intellectual disability, and susceptibility to cancers.	has_symptom
+196a6303d797eb1f98e2bcf3c9b978d5393a6a90	@DISEASE$ (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, @PHENOTYPICFEATURE$, and susceptibility to cancers.	false
+9e4aabdc556b523b243471dadbc1ef9e4b9c33e6	Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, @DISEASE$, specific facial features, accelerated bone age, @PHENOTYPICFEATURE$, and susceptibility to cancers.	false
+74c397ca96604389cdd369906f8838afc55a7b9a	Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, @PHENOTYPICFEATURE$, and susceptibility to @DISEASE$.	false
+2989313949736a89b28bb477e9b5e8b79764da2c	A pair of twins, a brother and sister, with the complete form of @DISEASE$ (overgrowth, @PHENOTYPICFEATURE$, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance.	has_symptom
+2cb023f058591dc9dfe9ff752eeb9eb82716d548	A pair of twins, a brother and sister, with the complete form of @DISEASE$ (@PHENOTYPICFEATURE$, macrocephaly, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance.	false
+0e680eea8ec0e5f0805c452e7e8ada9fbe644471	A pair of twins, a brother and sister, with the complete form of Weaver syndrome (@PHENOTYPICFEATURE$, @DISEASE$, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance.	false
+8bc3356858994e52cf495b8a382fddf44eb3e67c	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified overgrowth/mental retardation, and six patients with @PHENOTYPICFEATURE$/mental retardation.	has_symptom
+3a10a61bb44587f9c8829ff2b000cd91c4040565	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified overgrowth/@PHENOTYPICFEATURE$, and six patients with macrocephaly/mental retardation.	false
+e37961c5f47ba048d341302ec0d7d6d73690116f	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with @DISEASE$, five patients with Weaver syndrome, six patients with unclassified @PHENOTYPICFEATURE$/mental retardation, and six patients with macrocephaly/mental retardation.	false
+7466af788e18ba4e958cdec92a2c8906d6c268c3	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified @PHENOTYPICFEATURE$/mental retardation, and six patients with @DISEASE$/mental retardation.	false
+f376603ee709465090c63cbce15b86dbc37866ff	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/@PHENOTYPICFEATURE$, and six patients with @DISEASE$/mental retardation.	false
+fd5c8d2d7624649cc62bfbb3943fd772f8f6eeea	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified @PHENOTYPICFEATURE$/mental retardation, and six patients with macrocephaly/mental retardation.	false
+1d2025f92bd105858e95a876d1ab093822cfc382	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with @DISEASE$/@PHENOTYPICFEATURE$.	false
+327f081a0d4c50f424e4c745c4e1db2d009c596a	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with @DISEASE$, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/@PHENOTYPICFEATURE$.	false
+d6067a1e6e94d420819d3d777b24aed9652f69b9	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with @DISEASE$, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/@PHENOTYPICFEATURE$.	false
+b8dea6d7a24de4b9ebe00436e1c32d171194e04c	In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with @DISEASE$, five patients with Weaver syndrome, six patients with unclassified overgrowth/@PHENOTYPICFEATURE$, and six patients with macrocephaly/mental retardation.	false
+1dbbd04e292afcfb319f8dd4ddaada01af9abd2d	@DISEASE$ is a rare condition characterized by overgrowth, @PHENOTYPICFEATURE$, accelerated osseous maturation, variable intellectual disability, and characteristic facial features.	has_symptom
+c2ef245df1aef7274da5df7594b1a56e1d8accd0	@DISEASE$ is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable @PHENOTYPICFEATURE$, and characteristic facial features.	false
+c80ff2c1a2d4297e80ca824ba2de1f358ba544ae	@DISEASE$ is a rare condition characterized by @PHENOTYPICFEATURE$, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features.	false
+93dd14f6d052501c2b3e4f382f93488ad5d0b729	Weaver syndrome is a rare condition characterized by overgrowth, @DISEASE$, accelerated osseous maturation, variable @PHENOTYPICFEATURE$, and characteristic facial features.	false
+a06720d5959ce7c16fb6493049bc07e8fd13c00a	Weaver syndrome is a rare condition characterized by @PHENOTYPICFEATURE$, @DISEASE$, accelerated osseous maturation, variable intellectual disability, and characteristic facial features.	false
+373d3d59080f26e4c050f01a383dd6af36f8a4aa	Whether this boy showed a milder expression of the @DISEASE$ or benign familial @PHENOTYPICFEATURE$ is discussed.	has_symptom
+03fe5f2a3b3920033b5fa25b159a49a46ae84395	These patients had been given a diagnosis of either @DISEASE$ (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, @PHENOTYPICFEATURE$, short stature, and kyphoscoliosis developing in late childhood.	has_symptom
+58a94a3082d75f25e517750192d60b7c7acf2d7a	These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis developing in late childhood.	false
+4a34357c3d6b21b712724e17d88d09d4d97e7dc0	These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal @DISEASE$ (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, @PHENOTYPICFEATURE$, and kyphoscoliosis developing in late childhood.	false
+ab59f3e3c23ad088e47cae67de15b09f463c9edb	These patients had been given a diagnosis of either @DISEASE$ (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, @PHENOTYPICFEATURE$, and kyphoscoliosis developing in late childhood.	false
+6a36e50831302b8465dac62e2f7215ea9578dcb8	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), @DISEASE$ (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital @PHENOTYPICFEATURE$, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities.	has_symptom
+c300acbeaf6dcf0e57e60cdea4cdaa05382c4789	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), @DISEASE$ (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, @PHENOTYPICFEATURE$, joint dislocation and other unique skeletal abnormalities.	has_symptom
+ce8740306b82d0568352678c0777bdcb58ff5159	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, @PHENOTYPICFEATURE$, @DISEASE$, joint dislocation and other unique skeletal abnormalities.	false
+0a7402d0625c3c2ddfdd070006c8333cbf2bb50b	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), @DISEASE$ (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, @PHENOTYPICFEATURE$, clubfoot, joint dislocation and other unique skeletal abnormalities.	false
+a16284d2acee8ef4039d9c2dff22a163ea5248af	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital @DISEASE$, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+544fba2f9b74352fd556c62547edbd7fa960d079	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), @DISEASE$ (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+028da3b46690ffdf09a3f59a05c94aa98c0bf256	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, @DISEASE$, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+cf3792c0ba81ccfa4fba0f548803d90d6ae4f697	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital @DISEASE$, presenting with scoliosis, @PHENOTYPICFEATURE$, clubfoot, joint dislocation and other unique skeletal abnormalities.	false
+a4a2ebc6c05c0ecbdf39bb0ef90df8cba7647308	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with @DISEASE$, @PHENOTYPICFEATURE$, clubfoot, joint dislocation and other unique skeletal abnormalities.	false
+982984c46eed47969fd04d64eeabb9d064bc1cae	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), @DISEASE$ (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+1d672f7de8510d753e7e441a30c6a6b8033a6dc4	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), @DISEASE$ (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, @PHENOTYPICFEATURE$, clubfoot, joint dislocation and other unique skeletal abnormalities.	false
+076d464c8f8dfeef6922d82e05ba0a039c6caf3e	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with @DISEASE$, short-limbed dwarfism, clubfoot, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+cf3aba331ad55cea1b87c9cc9915260ac5e11e20	Newborn x-rays, however, established the diagnosis of @DISEASE$ with bilateral dislocations of the hips, knees (genu recurvatum), and ankles (@PHENOTYPICFEATURE$).	has_symptom
+d93a929512c777ec2801db7c629c67d66fba14fb	It may occur as an isolated deformity, it may be associated with musculoskeletal anomalies such as developmental dysplasia of the hip and @PHENOTYPICFEATURE$, or it may occur as part of a syndrome such as arthrogryposis multiplex congenita or @DISEASE$, or it may occur in paralytic conditions such as meningomyelocele.	has_symptom
+2769cbc50add13ffc066f5fde356393ea135d3f1	These patients carried mutations associated with Bloom syndrome, Mulibrey nanism, @DISEASE$, or IGF1R-associated @PHENOTYPICFEATURE$.	has_symptom
+96e6c1b9e304fe3d24ae96c1f1f4486ae4fb1df3	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by @PHENOTYPICFEATURE$, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies.	has_symptom
+b13585a2723b4881390ce1fc05e41c16a9a9520a	Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by @DISEASE$, characteristic facial appearance, @PHENOTYPICFEATURE$, macrodontia, and skeletal anomalies.	false
+788641b4dd2753bdc5cd64986c22575780d1cb6a	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by short stature, characteristic facial appearance, @PHENOTYPICFEATURE$, macrodontia, and skeletal anomalies.	false
+3c5c0f452a72d0595e1b01054b0bef9cbb404b8d	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and @PHENOTYPICFEATURE$.	false
+fef50c0fc31c0b5618f29131666fb856d73841d5	Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by @DISEASE$, characteristic facial appearance, intellectual disability, macrodontia, and @PHENOTYPICFEATURE$.	false
+d82df9357b1b1e89e03e9179eb78ef617f79877f	@DISEASE$ is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, @PHENOTYPICFEATURE$, and skeletal anomalies.	has_symptom
+4230bd849ae692984bd3dd6eb7c9e7227c2355bc	@DISEASE$ is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and @PHENOTYPICFEATURE$.	false
+3bb05434ed1f64086e5a6f100a7d3ba746e1ff1e	KBG syndrome is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ff1df578e21f60b9c348ab634f8798bbf9422053	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and skeletal anomalies.	false
+7fefaa99e81cd760df31df9595619adb882b4a7c	KBG syndrome is a rare disease characterized by @PHENOTYPICFEATURE$, typical craniofacial dysmorphism, macrodontia of the upper central incisors, @DISEASE$, and skeletal anomalies.	false
+b15af0410fd47c8f217e6b7731a35acb947a56b8	@DISEASE$ comprises a distinct facial phenotype, macrodontia, @PHENOTYPICFEATURE$, and skeletal anomalies.	has_symptom
+08ccdd975288cfecc93871e5c0543fd95b629e14	KBG syndrome comprises a distinct facial phenotype, macrodontia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b8712bc55b1b3e998c60e85a3f55612b3bbfcb12	@DISEASE$ comprises a distinct facial phenotype, macrodontia, short stature, and @PHENOTYPICFEATURE$.	false
+53c76ebe9b1732d18a5ffebd1295b811d0447c99	@DISEASE$ (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, @PHENOTYPICFEATURE$, intellectual disability, skeletal, and neurologic involvement.	has_symptom
+d8168e2a82265fce573b4320c406465a0f48ad6a	KBG syndrome (OMIM 148050) is a very rare @DISEASE$ characterized by macrodontia, distinctive craniofacial abnormalities, short stature, @PHENOTYPICFEATURE$, skeletal, and neurologic involvement.	false
+a200d69a58afe534111bb8c4b5b6fcfb19f1bf92	@DISEASE$ (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, short stature, @PHENOTYPICFEATURE$, skeletal, and neurologic involvement.	false
+b6c3dd398fe328ecae05ef5efa50d371112661ac	KBG syndrome (OMIM 148050) is a very rare genetic disorder characterized by macrodontia, distinctive craniofacial abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, skeletal, and neurologic involvement.	false
+5fdea5968bcdbfead66a6e18c9d0269c6385d25a	Cardinal features of @DISEASE$ include facial dysmorphism, @PHENOTYPICFEATURE$, skeletal anomalies, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	has_symptom
+a90ad34968f237cab2e89f2070424a19b11d1592	Cardinal features of KBG syndrome include facial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	false
+72ad5e5e9e4cd12329dba26013dddce349d06f4a	Cardinal features of @DISEASE$ include facial dysmorphism, short stature, @PHENOTYPICFEATURE$, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	false
+f071cc9f9c4ea0f4076923483aadb754c35aee55	Cardinal features of @DISEASE$ include @PHENOTYPICFEATURE$, short stature, skeletal anomalies, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	false
+09941a49f5a530933a59da431da3459c816aadef	Cardinal features of KBG syndrome include @PHENOTYPICFEATURE$, @DISEASE$, skeletal anomalies, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	false
+95d99b20ad55248333f51f40726b38a8c51345f0	@DISEASE$, due to ANKRD11 alteration is characterized by developmental delay, @PHENOTYPICFEATURE$, dysmorphic facial features, and skeletal anomalies.	has_symptom
+2a328106ade7d1faf3546e9271e047c8c1534660	@DISEASE$, due to ANKRD11 alteration is characterized by developmental delay, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+e2670e27a45a212d1dd6a4ccde4fa4769c29ed66	@DISEASE$, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and @PHENOTYPICFEATURE$.	false
+b2413b2b1853cb213cf8818bb72e15e6ef29d57f	KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+6d8d5b6a4179a5be39cececfc58e0e03f45c8e5d	KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, @DISEASE$, dysmorphic facial features, and @PHENOTYPICFEATURE$.	false
+e3a9248bf82f7d831bdfa902a59a428b67f543b2	@DISEASE$ is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and @PHENOTYPICFEATURE$.	has_symptom
+6c6673893abd9bfcd84ba0ecf955706fd053a502	@PHENOTYPICFEATURE$ is prevalent in @DISEASE$, and spontaneous catch-up growth beyond childhood appears limited.	has_symptom
+1b950cc2618711574806925578b915bcbb77399f	@DISEASE$ is a condition characterised by macrodontia, neurological disturbance, @PHENOTYPICFEATURE$, a distinct cranio-facial appearance, and skeletal anomalies.	has_symptom
+2d82c0f7c90c61792c565a1d1f118a9072aa0e7f	KBG syndrome is a condition characterised by macrodontia, neurological disturbance, @DISEASE$, a distinct cranio-facial appearance, and @PHENOTYPICFEATURE$.	false
+782e34563fc495546920e91eda50fb2f9d8c996f	@DISEASE$ is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and @PHENOTYPICFEATURE$.	false
+8d9c383256eaecc5f35de990021aea84a2cf07d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and @PHENOTYPICFEATURE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	has_symptom
+f1099313faaf184b1910e6ec72e9ee43e03479f5	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+668576c9f7266ff38b29d5af576e6fb9e41281fd	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+60663af6a9c012efd25f4ecf5913ac186afe02d6	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+fda43a3f3aa2ddd44d93415464561f0ecd2d55c6	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @DISEASE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+9f32c1b7d76f6b876850e9eb92427412c5c8a15b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+ba480271d2c6ffa8dc24395d9161c71fe6a02d1b	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+60525c2998b3affea4ae9fea40e68eee47a3edd7	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @DISEASE$; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+80d0b1822b8fd64256655b4a497384187b410941	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, @DISEASE$, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+1c354f577d92ddd1ba74c918554c84742a8ef355	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (@PHENOTYPICFEATURE$, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+a4a6112dd15a5af053fab8c2e4dfc01f3c3bf929	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and @DISEASE$; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+8a0cecc516a588288a1623561698e1ad711d531a	The classic phenotype of @DISEASE$ is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent @PHENOTYPICFEATURE$, periodic confusion, recurrent headaches).	false
+2e092a5e571f12a9b11ac8ef089447a23f8ebc81	The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; @DISEASE$ (ataxia, dystonia, @PHENOTYPICFEATURE$); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches).	false
+0ff19e822c097ef9c46bbf71357d89e3eb5b8503	@DISEASE$ or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular @PHENOTYPICFEATURE$ in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli.	has_symptom
+836a5d19f8ad80bc294eace236255b5ddad53946	@DISEASE$, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal @PHENOTYPICFEATURE$, can be caused by mutations in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor (GLRA1).	has_symptom
+a9658da0a9d13032903a958080610ad12c8159e9	@DISEASE$ or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to @PHENOTYPICFEATURE$ and apnea episodes.	has_symptom
+9bcc510a16a4f16ca6b1ec8439c58670df597138	@DISEASE$ or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and @PHENOTYPICFEATURE$ episodes.	false
+932e8c92d1dd75f9a8e2bc4227d399e98e50c6bb	Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to @DISEASE$ and @PHENOTYPICFEATURE$ episodes.	false
+d3511dcea15af9ef7a247586dd416132c413336c	@DISEASE$ or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular @PHENOTYPICFEATURE$ and myoclonic jerks, exaggerated by the slightest stimulus.	has_symptom
+ce6d5da245ceb524bed96ca840bef6ca979b5049	Startle disease or @DISEASE$ is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular hypertonia and @PHENOTYPICFEATURE$, exaggerated by the slightest stimulus.	false
+76e76c7c699c18bee8b08e115df9e5a862db1fcd	Startle disease or hyperreflexia is an autosomal dominant @DISEASE$, with a neonatal onset, characterized by muscular hypertonia and @PHENOTYPICFEATURE$, exaggerated by the slightest stimulus.	false
+b478311549ede3d44cb8915d27686be965d2eed1	@DISEASE$ or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular hypertonia and @PHENOTYPICFEATURE$, exaggerated by the slightest stimulus.	false
+9e41e6e03e28808df558f1bf54009c4cdbef496e	Startle disease or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular @DISEASE$ and @PHENOTYPICFEATURE$, exaggerated by the slightest stimulus.	false
+08bfb13ccb6c87b8615413b5468ae677047dc10c	Hyperekplexia or @DISEASE$ (stiff baby syndrome, STHE) is a hereditary neurological disorder characterised by an exaggerated startle response and infantile muscle @PHENOTYPICFEATURE$.	has_symptom
+99989d61eeba0dade06bf942caf618e85bdb45f6	Hyperekplexia or startle disease (@DISEASE$, STHE) is a hereditary neurological disorder characterised by an exaggerated startle response and infantile muscle @PHENOTYPICFEATURE$.	has_symptom
+77560c1263f588605e181032013c288bc5fae138	Hyperekplexia or @DISEASE$ is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing @PHENOTYPICFEATURE$ and apnea episodes.	has_symptom
+faeddc7cdaf81a057efb69b839192f5b8bbca12c	Hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing @DISEASE$ and @PHENOTYPICFEATURE$ episodes.	false
+ffedd0451417a69d4dedd56518d1a83681e3dae1	@DISEASE$ or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing hypertonia and @PHENOTYPICFEATURE$ episodes.	false
+ff5b10262caf7855ca17ca8f9cf46c8ebebc7a3b	Hyperekplexia or @DISEASE$ is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing hypertonia and @PHENOTYPICFEATURE$ episodes.	false
+3d5e08b3bbb4fdf2a29159060c0d04b059c0a386	@DISEASE$, or hyperekplexia, is characterized by an exaggerated startle reflex and neonatal @PHENOTYPICFEATURE$.	has_symptom
+d933e2c236672ecd1b633c71a581efe67087f18e	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH(-/-) mice), manifests early @PHENOTYPICFEATURE$ that evolve into generalized convulsive seizures and lethal status epilepticus in gene-ablated mice.	has_symptom
+8d6f71c30011d8ce62c9d36d97a445a2d22984b0	Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH(-/-) mice), manifests early @DISEASE$ that evolve into generalized convulsive @PHENOTYPICFEATURE$ and lethal status epilepticus in gene-ablated mice.	false
+4dc4f232b4a4e5efa386f23930faa26571efa42d	Succinic semialdehyde dehydrogenase (@DISEASE$) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH(-/-) mice), manifests early absence seizures that evolve into generalized convulsive @PHENOTYPICFEATURE$ and lethal status epilepticus in gene-ablated mice.	false
+5cc80b7b5adae6554f43d57477b6dc4e82fa7ee5	@PHENOTYPICFEATURE$ in @DISEASE$ mice: a model of juvenile absence epilepsy.	has_symptom
+fca1e5afb15e3158bc5ab44f422539d86fd6ff59	GHB is known to induce absence-like seizures and @PHENOTYPICFEATURE$ have been reported to occur in children with @DISEASE$.	has_symptom
+7017b9114866f44208b1a3e4a4e5d9a4c091cf1c	GHB is known to induce absence-like @PHENOTYPICFEATURE$ and absence seizures have been reported to occur in children with @DISEASE$.	false
+35b7d24178b5a0621c51c2ef4e197ef8cc3c2354	GHB is known to induce absence-like @PHENOTYPICFEATURE$ and @DISEASE$ have been reported to occur in children with SSADH deficiency.	false
+0427c6e6e7531e44e42a91053ebdf8c113f1b5fb	We described a case of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+2ab16a633e3a280d2c01bacebca7d303bada6275	A case of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+38d8aceefe04359e08e134f4d80350adee717637	@DISEASE$ is a hereditary disorder characterized by progressive muscle weakness and @PHENOTYPICFEATURE$, and special care during anesthesia is needed in these patients.	has_symptom
+2d5a0498fa509859b9b6e43c8070420d3f051098	The highest percentage of @PHENOTYPICFEATURE$ occurred in patients with @DISEASE$.	has_symptom
+d013cca07a25a8640d012e450698823cc3aa4e40	Compartmental syndrome in @DISEASE$: early evaluation of an epiphenomenon leading to wasting, weakness and @PHENOTYPICFEATURE$.	has_symptom
+07d55d48b5bb5836cdeca7205d3e375b9616b6b7	Orthosis use prevents muscle @PHENOTYPICFEATURE$ and prolongs ambulation in patients with Duchenne muscular dystrophy (@DISEASE$).	has_symptom
+760217c343e16266ca03e82970053268987d4aff	Orthosis use prevents muscle @PHENOTYPICFEATURE$ and prolongs ambulation in patients with @DISEASE$ (DMD).	has_symptom
+82b926871a12723a084563e0fffe47fdce3ae932	@PHENOTYPICFEATURE$ are the second major impairment affecting the locomotor system of children with @DISEASE$ (DMD).	has_symptom
+5b179a0327aed4ad4aa162662fafeffdec82a8bf	@PHENOTYPICFEATURE$ are the second major impairment affecting the locomotor system of children with Duchenne muscular dystrophy (@DISEASE$).	has_symptom
+3261406fe9585ae1672bee30a8c70cb9be5b5189	Two @DISEASE$ patients and one BMD patient had positive @PHENOTYPICFEATURE$ tests.	has_symptom
+5c052563441c1a95815b50bdf35981d1cb4397c3	The main goal in the treatment of @DISEASE$ (DMD) is to maintain ambulation for as long as possible and to anticipate and manage the associated complications, such as @PHENOTYPICFEATURE$, scoliosis, cardiomyopathy, respiratory insufficiency, and weight gain.	has_symptom
+5a5fbd22f68826acc709c02dffa18c6a9034d189	The main goal in the treatment of Duchenne muscular dystrophy (@DISEASE$) is to maintain ambulation for as long as possible and to anticipate and manage the associated complications, such as @PHENOTYPICFEATURE$, scoliosis, cardiomyopathy, respiratory insufficiency, and weight gain.	has_symptom
+f93718f9020f7f82d33055b034c77d29a2827d80	@DISEASE$ is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle @PHENOTYPICFEATURE$ in later disease stages.	has_symptom
+d243563585c4f373852a936ccdf5a975f3113c24	The various measures used to treat the symptoms of @DISEASE$ (DMD), i.e. medication with steroids, early operation on @PHENOTYPICFEATURE$ and spine deformities as well as cardiac diagnostics and therapy, should always be accompanied by careful monitoring of the patient's respiratory status.	has_symptom
+851c68ddbe24c73028f69ae79d63103391d5dc76	The various measures used to treat the symptoms of Duchenne muscular dystrophy (@DISEASE$), i.e. medication with steroids, early operation on @PHENOTYPICFEATURE$ and spine deformities as well as cardiac diagnostics and therapy, should always be accompanied by careful monitoring of the patient's respiratory status.	has_symptom
+25d960a027088124a018af8e392597542d9145f3	@DISEASE$ must be diagnosed early, not only to enable genetic counseling concerning future pregnancy and screening of female siblings, but also to stage physical therapy to delay muscle @PHENOTYPICFEATURE$.	has_symptom
+4572463a8940524d7502df3b444c40cf11802f65	In this report, we present two male fetuses which were diagnosed with @DISEASE$ after detection of short femora, @PHENOTYPICFEATURE$, and other anomalies by ultrasonography at the age of 14 and 16 weeks, respectively.	has_symptom
+fd206e8e3f4febf5c4a91d8dc4d9a17de06a3160	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent @PHENOTYPICFEATURE$, short stature and hypoplastic femur and tibia, clinically diagnosed with @DISEASE$ (FFS, OMIM 134780).	has_symptom
+4bf7e699823ef08769e1c3b8ba1ac457d79ccc3e	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent @PHENOTYPICFEATURE$, short stature and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (@DISEASE$, OMIM 134780).	has_symptom
+c338f61e974d81fa981a316aba1dd7d2af5ff2dc	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, @PHENOTYPICFEATURE$ and hypoplastic femur and tibia, clinically diagnosed with @DISEASE$ (FFS, OMIM 134780).	false
+3ff9db815bbd429eed7a34151832abeb0b6270f6	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, @PHENOTYPICFEATURE$ and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (@DISEASE$, OMIM 134780).	false
+61655ece92fa1b3def43c7805d7fb11e04b71bfd	We also identified a de novo c.683G?>?T p.(Trp228Leu) variant in DONSON in a patient with prominent @DISEASE$, @PHENOTYPICFEATURE$ and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (FFS, OMIM 134780).	false
+b115528a1f82c06169ef872cf17971278c19e4af	@DISEASE$ (FFS) is comprised of cleft palate, @PHENOTYPICFEATURE$, short or absent femora, and vertebral and genitourinary malformations.	has_symptom
+7f7160cffbb9c00b57ef2f68b2f98305f0b4751d	Femoral facial syndrome (@DISEASE$) is comprised of cleft palate, @PHENOTYPICFEATURE$, short or absent femora, and vertebral and genitourinary malformations.	has_symptom
+ce9f54b892e74959a39813207f561e9591bff577	Femoral facial syndrome (FFS) is comprised of @PHENOTYPICFEATURE$, @DISEASE$, short or absent femora, and vertebral and genitourinary malformations.	false
+855e264817794ff3d499924b412561783c38862b	Femoral facial syndrome (@DISEASE$) is comprised of @PHENOTYPICFEATURE$, micrognathia, short or absent femora, and vertebral and genitourinary malformations.	false
+e2ca7328135ecaa40b97ec3daeb05ab0c12aab3b	@DISEASE$ (FFS) is comprised of @PHENOTYPICFEATURE$, micrognathia, short or absent femora, and vertebral and genitourinary malformations.	false
+c2f5641469aaf27cfb2d124f3eb1562e2a054b7c	We present a boy diagnosed as @DISEASE$ with total agenesis of right lower limb, agenesis of femur and fibula of left lower limb and @PHENOTYPICFEATURE$, long philtrum as facial features.	has_symptom
+f9260d493ae29380deec465c80af5a58abd24f0e	The @DISEASE$ comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and @PHENOTYPICFEATURE$.	has_symptom
+673529e5bd15af036ea57d533db5c925890bf8c5	The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+974d425d11983050ebb2eb28d2463d8c5439f497	The @DISEASE$ comprises short femurs and a facies with short nose, elongated philtrum, @PHENOTYPICFEATURE$ and micrognathia.	false
+e8aa0d7c7f2060724be58d84666469238982e224	@DISEASE$ (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	has_symptom
+203ac211dbb3637f80eb091267185ce307aadfbf	Femoral-facial syndrome (@DISEASE$, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @PHENOTYPICFEATURE$, cleft palate, and other minor dysmorphisms.	has_symptom
+634e7e9bdd5cd95cea1455409a9a0b02c9d62192	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by @DISEASE$, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	false
+bc12e820d2dd434abc6bc5108ec01b946c4298a7	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic @DISEASE$ associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	false
+fa01f7bc539dc0241377e4b46019f4d5c0985877	@DISEASE$ (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	false
+ff40d2da98462dfee5a5e3b20638e49e8b9c07d1	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal @DISEASE$, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	false
+f6eb639d07c275cb6183663d045dfb1c2081507e	Femoral-facial syndrome (@DISEASE$, OMIM 134780), also known as femoral hypoplasia-unusual face syndrome, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	false
+9fc941d95d3816401d262f41567bb74f4a2c86ef	Femoral-facial syndrome (FFS, OMIM 134780), also known as femoral hypoplasia-unusual @DISEASE$, is a rare sporadic syndrome associated with maternal diabetes, and comprising femoral hypoplasia/agenesis and a distinct facies characterized by micrognathia, @PHENOTYPICFEATURE$, and other minor dysmorphisms.	false
+2c7235bafaf78a5722b12af897a42957ab3309f3	Autosomal dominant @DISEASE$ (TBS) is characterized by imperforate anus, triphalangeal and supernumerary thumbs, dysplastic ears and @PHENOTYPICFEATURE$, and may also involve other organ systems.	has_symptom
+b5cbe50a23d93cc76781cf4afade8ef5f227a85f	Autosomal dominant Townes-Brocks syndrome (@DISEASE$) is characterized by imperforate anus, triphalangeal and supernumerary thumbs, dysplastic ears and @PHENOTYPICFEATURE$, and may also involve other organ systems.	has_symptom
+db45e6f10819e25f5bcddda93d21222eed1e1999	The Townes-Brocks syndrome (@DISEASE$) is an autosomal dominantly inherited malformation syndrome presenting as an association of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and @PHENOTYPICFEATURE$.	has_symptom
+566e66590e7d3373ace8e6e66208112ec1d68e2f	The @DISEASE$ (TBS) is an autosomal dominantly inherited malformation syndrome presenting as an association of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and @PHENOTYPICFEATURE$.	has_symptom
+97232108e2aa6a0e3b6900b5cdcea6c8380a8db8	Heterozygous mice mimic @DISEASE$ patients by displaying high-frequency @PHENOTYPICFEATURE$, renal cystic hypoplasia and wrist bone abnormalities.	has_symptom
+c7a2f1a47234e76c9498c546f13f32fddd4598eb	Heterozygous mice mimic @DISEASE$ patients by displaying high-frequency sensorineural hearing loss, @PHENOTYPICFEATURE$ hypoplasia and wrist bone abnormalities.	false
+2067bab66d01847851a02720a504e96ca54dfb9e	Heterozygous mice mimic TBS patients by displaying high-frequency @DISEASE$, @PHENOTYPICFEATURE$ hypoplasia and wrist bone abnormalities.	false
+4fe439b15eab2fe824bf65bf1b5a9e7a7834a1f6	The association between @PHENOTYPICFEATURE$ and imperforate anus is likely to represent more than a chance occurrence, given its presence also in the @DISEASE$.	has_symptom
+731bf1671efe85b9605b3d4fbd5d763cb2b07ccd	Townes-Brocks syndrome (@DISEASE$) is a condition with imperforate anus, hand anomalies, and ear malformations with @PHENOTYPICFEATURE$.	has_symptom
+7ec0ecc7ede998a4db8e9a3edc05c53aeed3e619	@DISEASE$ (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with @PHENOTYPICFEATURE$.	has_symptom
+5a7a21ec22742521e854a0a987ae58f339740d3c	@DISEASE$ (TBS) is a condition with imperforate anus, @PHENOTYPICFEATURE$, and ear malformations with sensorineural hearing loss.	false
+f63c6979ac39b202baa333048d3d88fd600f62f1	Townes-Brocks syndrome (@DISEASE$) is a condition with imperforate anus, @PHENOTYPICFEATURE$, and ear malformations with sensorineural hearing loss.	false
+0b8938195e25268c80b05ccefcdd9ccc1f4a0443	Townes-Brocks syndrome (TBS) is a condition with imperforate anus, @PHENOTYPICFEATURE$, and ear malformations with @DISEASE$.	false
+5f5cb84c952c1b4414e10917f34a0d688d311634	Mutations in SALL1, the human homolog of the Drosophila spalt gene, result in @DISEASE$, which is characterized by hand/foot, anogenital, renal, and ear anomalies, including @PHENOTYPICFEATURE$.	has_symptom
+b16a9bb9a0563d82a33b3cde5f20c0a2ec821a85	Mutations in SALL1, the human homolog of the Drosophila spalt gene, result in Townes-Brocks' syndrome, which is characterized by hand/foot, anogenital, renal, and @PHENOTYPICFEATURE$, including @DISEASE$.	false
+e771c9e18353f387b4deec5aa5393271a8642999	Mutations in SALL1, the human homolog of the Drosophila spalt gene, result in @DISEASE$, which is characterized by hand/foot, anogenital, renal, and @PHENOTYPICFEATURE$, including sensorineural deafness.	false
+68ddaacbd7348942f8b8480654cad983bbc663f6	Townes-Brocks syndrome (@DISEASE$) is an autosomal dominantly inherited malformation syndrome characterized by imperforate anus and limb and ear malformations with @PHENOTYPICFEATURE$.	has_symptom
+c421414de954881b58e761beab40a116e5f1fd48	@DISEASE$ (TBS) is an autosomal dominantly inherited malformation syndrome characterized by imperforate anus and limb and ear malformations with @PHENOTYPICFEATURE$.	has_symptom
+a13903bac36ab38a2b467c37f8ce3bbd28fe2bb5	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness.	has_symptom
+55e915599491fa1903c037a24c0cb4e34af188cf	Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, @DISEASE$, optic atrophy, and @PHENOTYPICFEATURE$.	false
+031723e9eb8301314b0b0bf0fe5aa6dd553ed3f7	Wolfram syndrome 1 is a rare autosomal recessive @DISEASE$ characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$.	false
+ebf1fd0187f96769e9336f53fadbb46fb08aa509	Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by @DISEASE$, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$.	false
+0623fbb9b1015a4743bb0e3c041dd59c571116f2	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$.	false
+62abf08705198e680cd1658360a719e5c4d23c74	Wolfram syndrome 1 is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9a659e9ac739e4438d1745aa835916d180bafec9	@DISEASE$ is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$, diabetes insipidus, and deafness.	has_symptom
+e42c583ea1728928fe5cb2cd401d3eeff934632c	Wolfram syndrome-1 is a rare and severe autosomal recessive @DISEASE$ characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+5e2bb6c26b15d461174c2fbab0fc5fa468a5a7a3	Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by @DISEASE$ (DM), optic atrophy, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+2e28d8860ffc6c6e8394759eafb4e6b46acd278a	Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+51b8f0550ab2ced644227ffb0cfcc5422873c945	Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), @DISEASE$, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+fbfafcd1f2bcd220e89097d8d7bad680a97e5db0	@DISEASE$ is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+605e734fb1d15a053dac645ecfe50c7ed356b5b8	@DISEASE$ (WFS1, OMIM 222300), a rare genetic disorder characterized by @PHENOTYPICFEATURE$, deafness, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin.	has_symptom
+e4414e44804486dcd3d14a8807ad6edae55c4f47	Wolfram syndrome 1 (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, @PHENOTYPICFEATURE$, @DISEASE$ and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin.	false
+578ab88df2edc95fd7994a7fa0768d4abf031f39	@DISEASE$ (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, @PHENOTYPICFEATURE$, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin.	false
+cba1002a540cbec4740873d6138dcf27202f0eda	Wolfram syndrome 1 (WFS1, OMIM 222300), a rare @DISEASE$ characterized by optic nerve atrophy, @PHENOTYPICFEATURE$, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin.	false
+f26fc12a645f872c56f31c71195f8174464b9b1d	Wolfram syndrome 1 (WFS1, OMIM 222300), a rare genetic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin.	false
+ca85a66de979b1703277418983e77a89e3772782	Wolfram syndrome 1 (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, @PHENOTYPICFEATURE$, diabetes insipidus and @DISEASE$, is caused by mutations of WFS1, encoding WFS1/wolframin.	false
+00dfcae6963442c3bc5e4d154ae9c89b8ea71137	@DISEASE$ (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness (DIDMOAD syndrome).	has_symptom
+636fe58d863f86b9ccb0e197d29da33ef8d852e7	@DISEASE$ (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DIDMOAD syndrome).	false
+7763f014a4e51591b7efc5cf14a22079c3e3fcb1	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by @DISEASE$, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DIDMOAD syndrome).	false
+c8268433f5986482a689feb6fc4cd03598491764	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$ (DIDMOAD syndrome).	false
+aeedbfecaf000ad2202c5c2d616accc554e78e5b	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, @DISEASE$, optic atrophy, and @PHENOTYPICFEATURE$ (DIDMOAD syndrome).	false
+46710bf882791696d2485a7440d14d94c0a20a55	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+56a687da0af2cffbba29adbe00c16b2f738a2995	@PHENOTYPICFEATURE$ (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited @DISEASE$.	has_symptom
+5081918b74c4425af739e6bf3ec482618a260024	Optic atrophy (OA) and @PHENOTYPICFEATURE$ (SNHL) are key abnormalities in several syndromes, including the recessively inherited @DISEASE$.	false
+cedd5f763d5befb40d58f644c0312ba299925136	@DISEASE$ (OA) and @PHENOTYPICFEATURE$ (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1.	false
+e0dc197e4c049a88f6fadf556f21a045ece7cc60	Wolfram syndrome (WS), caused by loss-of-function mutations in the @DISEASE$ gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral @PHENOTYPICFEATURE$, and a wide spectrum of neurological and psychiatric manifestations.	has_symptom
+734997f4bfb71fbfc6d19b09c693cc75c7873ed4	@DISEASE$ (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, deafness, and other abnormalities.	has_symptom
+f739122cfb694c0381089cd6d5b3032be5c30714	Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$, and other abnormalities.	false
+fc54f61b871356f0cc31cabb27c4d4530c8c96dc	Wolfram syndrome 1 (WS1) is a rare autosomal recessive @DISEASE$ characterized by diabetes insipidus, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$, and other abnormalities.	false
+f5fb7157e08891602d6c1fc5face2ebc1b129076	Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by @DISEASE$, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$, and other abnormalities.	false
+933918418de2ba43235acbeb93c12b915783c46d	@DISEASE$ (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$, and other abnormalities.	false
+53e6b2f6069c68a1b045fb6819bad44313c06b00	Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$, and other abnormalities.	false
+c7e10c8eb0dd3d84be1e979756c7d801dda9f4d8	@DISEASE$ (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations.	has_symptom
+1dff362101ffb83b553607c5b888273585f4d0a1	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, @DISEASE$, optic atrophy, and @PHENOTYPICFEATURE$ (DI DM OA D syndrome) associated with other variable clinical manifestations.	false
+954b5de5198152bfee32953ef444c075d62247ff	@DISEASE$ (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DI DM OA D syndrome) associated with other variable clinical manifestations.	false
+6664c095b904fb29cc62ed0cb05d8182ab06d7d4	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by @DISEASE$, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DI DM OA D syndrome) associated with other variable clinical manifestations.	false
+37ecec94754d913f118cd4795b508c21d2a3be3a	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$ (DI DM OA D syndrome) associated with other variable clinical manifestations.	false
+a053aadb2e202118235905dc1560cd5913ec5c33	Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DI DM OA D @DISEASE$) associated with other variable clinical manifestations.	false
+dca489b90412047571e8cf525d3718303ac7935b	@DISEASE$- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, @PHENOTYPICFEATURE$ and medullary degeneration.	has_symptom
+a26088f1c611bcbcda8124c514a6d2f9315cc898	@DISEASE$ is a rare, autosomal recessive, neurodegenerative disorder that is diagnosed when insulin-dependent diabetes of non-auto-immune origin and @PHENOTYPICFEATURE$ are concomitantly present.	has_symptom
+512ac866b0d333bcfcab0e32545cb01f72203c83	HIST1H1E syndrome (also known as @DISEASE$, OMIM #617537) is a recently described @PHENOTYPICFEATURE$ (ID) syndrome.	has_symptom
+b8f6313824f9ac6209b2cb9d560c260064ebc39a	@DISEASE$ (HOPP) is a rare disease associated with attacks of muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+4a3aa1995130515a869f57356075ffaf19eccdb6	@DISEASE$ (HOPP) is a rare disease associated with attacks of @PHENOTYPICFEATURE$ and hypokalemia.	false
+96a24f5fc5ce9b325b228c00821adc2d99b51639	Hypokalemic periodic paralysis (HOPP) is a rare disease associated with attacks of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ad06fc41b578132e051f5b4038a4e89dd096dc90	@DISEASE$ (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and @PHENOTYPICFEATURE$.	has_symptom
+aff6561e1d995ee46d23eb3bca07d2c1b4b77adc	@DISEASE$ (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of @PHENOTYPICFEATURE$ and hypokalemia.	false
+9bf4ae07f2fc03522e17df3aaa6419f19a86dae6	Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1eeba41f1571f753ea84988c6be2ed467cbedd4b	@DISEASE$ (hypoKPP) is characterized by episodic flaccid paralysis of muscle and acute @PHENOTYPICFEATURE$ during attacks.	has_symptom
+b2143c3f7d5b2c74f1e68f84987edb511616f796	Although associated corneal clouding has been reported to produce little @PHENOTYPICFEATURE$, this patient with @DISEASE$ had corneal clouding, decreased corneal sensation, and cicatricial ectropion and experienced slowly progressive marked visual impairment.	has_symptom
+23cacdd090b8b513898256fa47ab32b5787b6b71	Poikiloderma, alopecia, retrognathism and @PHENOTYPICFEATURE$: the @DISEASE$.	has_symptom
+8e920a8e59f4e54fd2af6c83065a15cb099dbbb5	@DISEASE$ (SMCD; MIM 156500) is an autosomal dominant disorder of the skeleton that is manifested in early childhood by short stature, @PHENOTYPICFEATURE$, and a waddling gait.	has_symptom
+510be8cd7f241b3e0a9943849d1e71a8f8bcf45b	@DISEASE$ (SMCD; MIM 156500) is an autosomal dominant disorder of the skeleton that is manifested in early childhood by @PHENOTYPICFEATURE$, coxa vara, and a waddling gait.	false
+2e90b5db23a33082f688a22a3f0fd417d1e116db	Schmid metaphyseal chondrodysplasia (SMCD; MIM 156500) is an autosomal dominant disorder of the skeleton that is manifested in early childhood by @PHENOTYPICFEATURE$, @DISEASE$, and a waddling gait.	false
+4d08abec73e7041f779b8e39173c5228adc5a398	Clinical, epidemiological and experimental studies confirm a connection between the common degenerative @PHENOTYPICFEATURE$ Parkinson's disease (PD) that affects over 1 million individuals, and @DISEASE$, the most prevalent lysosomal storage disorder.	has_symptom
+a0be264d899df1f61a1b4df94b55c978dece281a	@DISEASE$ (PS) is an autosomal recessive disorder characterised by @PHENOTYPICFEATURE$ and thyroid dyshormonogenesis.	has_symptom
+47dba18e69fa4a5105bf89c2a4eeec798f5344d8	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, goiter and a partial defect in iodide organification.	has_symptom
+edc9efe448c8c33fc0cbbbc787698906893e5b9c	@DISEASE$ (PS) is an autossomal recessive disorder characterized by @PHENOTYPICFEATURE$, goiter and iodide organification defect.	has_symptom
+ba3f902847861d6b30cd44c1b4f61b6ffb4ef235	@DISEASE$ is a recessive autosomal disorder characterized by thyroid goiter and @PHENOTYPICFEATURE$.	has_symptom
+6ebc9515f3e9d50ada53c3ddbbc58325f188b7f0	Progressive @PHENOTYPICFEATURE$ and a widened vestibular aqueduct in @DISEASE$.	has_symptom
+ae6915c19778e5d5b63dc6b83e9fd42930403643	Progressive sensorineural hearing loss and a @PHENOTYPICFEATURE$ in @DISEASE$.	false
+76ef747cbf8bcf46e4527bec69fc73c4d55fbffc	Progressive @DISEASE$ and a @PHENOTYPICFEATURE$ in Pendred syndrome.	false
+e506f04ee20c90a7a727e2cc460ad426f8ef59cd	In humans, mutations in pendrin cause @DISEASE$ characterized by @PHENOTYPICFEATURE$ and goiter.	has_symptom
+c602f8d37a0115970988340d8df97ad7e35b7664	@DISEASE$ is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and @PHENOTYPICFEATURE$.	has_symptom
+865d3b1b88c5e2e62152047c03caefe61d3fff02	@DISEASE$ is an autosomal recessive disorder characterised by @PHENOTYPICFEATURE$ and thyroid dyshormonogenesis.	has_symptom
+b38754d02b9a7ad92b9ff7c5f776c6231d182d11	@DISEASE$ is one of the most common hereditary determined diseases in patients with syndromic @PHENOTYPICFEATURE$.	has_symptom
+d92060f527b4e4c86e3291f02d1b1b6b886cb020	@DISEASE$ (PDS) is an autosomal recessive disorder clinically characterized by @PHENOTYPICFEATURE$ and goiter.	has_symptom
+d97c54f7222341755accbcf713cf0ce1fa815f15	@DISEASE$: hereditary diabetes mellitus with brainstem and @PHENOTYPICFEATURE$.	has_symptom
+ef2847e2c85558f1b46eff1d5c34d886b8f00494	@DISEASE$ (DIDMOAD: diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness) is a rare neurodegenerative disorder.	has_symptom
+044bdd0242fb50632dea0a30ace769dd69893ff1	Wolfram syndrome (@DISEASE$: diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness) is a rare neurodegenerative disorder.	has_symptom
+a80bbacc6919b09c51335a45d231215452e24182	Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$) is a rare neurodegenerative disorder.	false
+5becf490d957d0d81b59f26f4f774789367f20ec	Wolfram syndrome (DIDMOAD: diabetes insipidus, @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$) is a rare neurodegenerative disorder.	false
+dff1a1a5d0fb35b2f64fe4f0dbbbbd11368d4529	Wolfram syndrome (@DISEASE$: diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$) is a rare neurodegenerative disorder.	false
+644fa5c579ccac95859e29cb10ce5657a0104680	Wolfram syndrome (DIDMOAD: @DISEASE$, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$) is a rare neurodegenerative disorder.	false
+99e364001986e7b1888a61bd4b7253ca648761f6	@DISEASE$ (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$) is a rare neurodegenerative disorder.	false
+1ab8f9835249b002d86a4be5d0a984e8d87dc4af	@DISEASE$ is the association of diabetes mellitus and @PHENOTYPICFEATURE$, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).	has_symptom
+77b60e0848f7cca63e219550f6bb867abebb5afc	Wolfram syndrome is the association of diabetes mellitus and @PHENOTYPICFEATURE$, also called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).	has_symptom
+74fea97dac3619b6ac1dde9abc177cf52cacbf35	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called @DISEASE$ (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness).	has_symptom
+8a7c605ab9d3b055d68904a15cbd26b676084e96	@DISEASE$ is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness).	has_symptom
+1b5f579c7bb4f9b8341f9c3b3ea20727bc075519	Wolfram syndrome is the association of @DISEASE$ and optic atrophy, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+e2147f87057547b1acb02cd4e3802450bc7046fb	@DISEASE$ is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+f05ff54c51eaa9aa6bd71ef02d73e442bf104e71	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (diabetes insipidus, diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+dfab2ff142f615a1f8a48db8c2ee5a3803581ff9	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+52b227799f276b145956b95c0afb5caa2aa17066	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (@DISEASE$, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+c466fa2da48f8474ef12e429ec70a513947a96aa	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, also called DIDMOAD (diabetes insipidus, @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$).	false
+052c47afebb997908026a5042426167bf0a00e98	Wolfram syndrome is the association of diabetes mellitus and @DISEASE$, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+a3c1d61c08a708d651fa03de0c97242f337486a2	[Independence of retinopathy and @PHENOTYPICFEATURE$ in the @DISEASE$].	has_symptom
+041341ca4e6f19dd327aafd5a2b965ecc8160104	Wolfram syndrome (@DISEASE$) is the most frequent syndromic form of monogenic diabetes coexisting with @PHENOTYPICFEATURE$ and many other disorders.	has_symptom
+5f05ea075caf8a17d7f4731d9553771e73f3a1e7	@DISEASE$ (WFS) is the most frequent syndromic form of monogenic diabetes coexisting with @PHENOTYPICFEATURE$ and many other disorders.	has_symptom
+abc476847c8728052d57b153d7bbec5f7e368d80	The syndrome of diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, deafness and other abnormalities (@DISEASE$, Wolfram syndrome).	has_symptom
+3fde38c61d86c457cce5759beadc562e830b577c	The syndrome of diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, deafness and other abnormalities (DIDMOAD, @DISEASE$).	has_symptom
+5e5f4d3b767e25ec2ac3752defd596ff95bb89a5	The syndrome of diabetes insipidus, @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$ and other abnormalities (DIDMOAD, Wolfram syndrome).	false
+f845489c770ed0ad6a659eceb7a778ba6d37ed3a	The syndrome of @DISEASE$, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$ and other abnormalities (DIDMOAD, Wolfram syndrome).	false
+fbef38fdad11a26cb9833f1955a6e45c6b087f38	The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$ and other abnormalities (DIDMOAD, @DISEASE$).	false
+1a36ab2a7f59bf36491e86333a0447d293ec3959	The syndrome of diabetes insipidus, diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$ and other abnormalities (DIDMOAD, Wolfram syndrome).	false
+c2cfde82041b1b33c42b547129658c71fdd0a87a	The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$ and other abnormalities (@DISEASE$, Wolfram syndrome).	false
+3a905db14e25d8d5c635d03d14712fd7b13dfb7e	@DISEASE$ is also called DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness).	has_symptom
+4ecaf93feaa79e79d1ed1ad6f36f4610f7289291	Wolfram syndrome is also called @DISEASE$ (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$ and deafness).	has_symptom
+4416518e765ec007cfcc11f20a8e9b1c6beabd60	Wolfram syndrome is also called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+4563d0204d6dce1ac37cfc6a424ee993ea7be139	@DISEASE$ is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+765cfb7c757c0d053a6f7bea5cdb637c638df508	Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+e313ebbedbac5f4a49473ffb19d486b38e6c0d92	Wolfram syndrome is also called DIDMOAD (@DISEASE$, diabetes mellitus, optic atrophy and @PHENOTYPICFEATURE$).	false
+35aeda03bd9e853a07e41db8db71c3bbcc5203d2	Wolfram syndrome is also called DIDMOAD (diabetes insipidus, @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$).	false
+441420bc3ff71325dfc3750ebb9adaf7c6e78bc0	@DISEASE$ is the association of diabetes mellitus and @PHENOTYPICFEATURE$, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).	has_symptom
+328a22b59b5cde88a4d99e4a55f232e8bd610e58	@DISEASE$ is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness).	has_symptom
+1b9445c8a6a28e5c8944d51e7ee90790d87f72ab	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called @DISEASE$ (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness).	has_symptom
+ac9b3df47b44e889392cda2a1f4c81bc05fb0400	Wolfram syndrome is the association of diabetes mellitus and @PHENOTYPICFEATURE$, and is sometimes called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness).	has_symptom
+968f77b6bcb9be4235bfdb6fc026a7f513654cb1	@DISEASE$ is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$).	false
+2ad442a3a03f70001823432f422f60b8a91b2c81	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called @DISEASE$ (diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$).	false
+3ad634257eac2bda8a4902fd436f3c9cb226f5de	Wolfram syndrome is the association of diabetes mellitus and @DISEASE$, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$).	false
+aaaf2a45fd3a6a719b0a5d9397a3e09b147d9202	Wolfram syndrome is the association of @DISEASE$ and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$).	false
+ec8cac5290d66fd8e11a0df2b82646c292a73037	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (@DISEASE$, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$).	false
+ab73163e2afb7a51b3570bf6ff24a27679171599	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$).	false
+0957bca82877bc8a188d967ebcba51ce9cba5c94	Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, @DISEASE$, optic atrophy, and @PHENOTYPICFEATURE$).	false
+34628c037854a4db2a03be28d4cc45f5e9275fa9	@DISEASE$ (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and @PHENOTYPICFEATURE$.	has_symptom
+e785b9a222b1da4c074ddef2d734ec568e822954	Wolfram syndrome (@DISEASE$) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and @PHENOTYPICFEATURE$.	has_symptom
+20e6dc3751181fc9fb5c55fcdc0292a9d54e4947	Wolfram syndrome (@DISEASE$) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and @PHENOTYPICFEATURE$.	has_symptom
+d76b734f8f59465cf94135780dcedaf61790a88f	@DISEASE$ (WFS) is a neurodegenerative genetic condition characterized by juvenile-onset of diabetes mellitus and @PHENOTYPICFEATURE$.	has_symptom
+f98b778d3ad2830a077ff4581ab2d520b7ace78c	In this article, we outline the most recent studies implicating autophagy and selective autophagy in human lung diseases, including chronic obstructive pulmonary disease, pulmonary @PHENOTYPICFEATURE$, @DISEASE$, and sepsis.	has_symptom
+75ff8f1eff928933feea02c1b526047ee2e7379f	The purpose of this review is to focus on the epidemiology, pathophysiology, diagnosis and management of select co-morbidities, including obstructive sleep apnoea, gastro-oesophageal reflux disease, pulmonary @PHENOTYPICFEATURE$ and depression, in @DISEASE$.	has_symptom
+0aafc183162ffa41404e4231599ac3e17078975b	VEGF is expressed in several parts of the lung and the pleura while it has been shown that changes in its expression play a significant role in the pathophysiology of some of the most common respiratory disorders, such as acute lung injury, asthma, chronic obstructive pulmonary disease, obstructive sleep apnea, @DISEASE$, pulmonary @PHENOTYPICFEATURE$, pleural disease, and lung cancer.	has_symptom
+41ca848f94bd6820fcba5b2f65fffb1fbfdf0dff	VEGF is expressed in several parts of the lung and the pleura while it has been shown that changes in its expression play a significant role in the pathophysiology of some of the most common respiratory disorders, such as acute lung injury, asthma, chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, idiopathic pulmonary fibrosis, pulmonary hypertension, pleural disease, and @DISEASE$.	false
+aabefbc2d6cc89c33683885ed725252682c976dc	VEGF is expressed in several parts of the lung and the pleura while it has been shown that changes in its expression play a significant role in the pathophysiology of some of the most common respiratory disorders, such as acute lung injury, asthma, chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, idiopathic pulmonary fibrosis, pulmonary @DISEASE$, pleural disease, and lung cancer.	false
+0cdc54430326a3923ca3b8445fcea208661ff9f3	VEGF is expressed in several parts of the lung and the pleura while it has been shown that changes in its expression play a significant role in the pathophysiology of some of the most common respiratory disorders, such as acute lung injury, asthma, chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, @DISEASE$, pulmonary hypertension, pleural disease, and lung cancer.	false
+0a2675fc275d5ba5fcf653409c4715774e4e877d	VEGF is expressed in several parts of the lung and the pleura while it has been shown that changes in its expression play a significant role in the pathophysiology of some of the most common @DISEASE$, such as acute lung injury, asthma, chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, idiopathic pulmonary fibrosis, pulmonary hypertension, pleural disease, and lung cancer.	false
+728e9e8a85d83fc2543eda111d1ce74a71ef2ccb	Patients with @DISEASE$ (IPF) usually develop hypoxemia and pulmonary @PHENOTYPICFEATURE$ when exercising.	has_symptom
+1d56a3272312faeeb845ed9125427c3cd8f75382	Patients with @DISEASE$ (IPF) usually develop @PHENOTYPICFEATURE$ and pulmonary hypertension when exercising.	false
+0bfa42d8afaff2e28e2091ffb0c94223e2ee2d21	Patients with idiopathic pulmonary fibrosis (IPF) usually develop @PHENOTYPICFEATURE$ and pulmonary @DISEASE$ when exercising.	false
+02e0ab884b2db84b78b165517c72848d19039956	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	has_symptom
+61eefa58be4dcdcd2e6029346d75c3efc5b74c24	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+e9a92a24550bb19a594b52356f24e251fcb0945d	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+90985062e2b8b4f786b6d17bc7b7d5a997b34bf9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+1e2c52ada80423443cba1e892cfa601e0ffba813	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @DISEASE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+9873632e398abd141322a322f251fe7c25c06855	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+de804cddbe9165c72f2d322e31cb1ebb4e876797	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+e3118126acde0778dd8b54b87e3aa92116eac1c9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+1dad9cb25b31132bf9440be5c795b0907467debb	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+7d2c6c21c72f359a79626bcf2d86e6ec82c7bf85	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+a3b0d85bc5790234771acb3345a75d8dce2974b8	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @DISEASE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+732ba4bf23ec1247f586877095d5941a24bce7cc	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis @DISEASE$.	false
+ce1065eb6c5442bcfd6322ac1bdd652c1d29ab30	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+98fa80e33fdb8a8f34d1a4545449691ce3ab9987	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis @DISEASE$.	false
+0270da8d26f87c3b01666f5320ac64a2febb1110	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+71088bba0c222fc4b31c02061a84bd323997420b	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+07ccc7610ef29d0e459a2395435aba0a7c2034a5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+dde014310642b30e47109c1812badbd6b6e75bea	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @DISEASE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+aea26d0fcaa56844fe68313b5ccd9501bdbc419c	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis @DISEASE$.	false
+decd7f4ef63bdd92b4070287f5e5cd03ed9503d7	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+141637e4ced113f0b3b8f2d504a6c3a250a677a2	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+5e24c1a997d5ff4cf52ae953ba7d669fd8a4fdd5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+bc09423561f0a7ccafe378bf614e1c331a623fdd	In conclusion, @DISEASE$ should be screened for in children presenting with the association of @PHENOTYPICFEATURE$, anaemia/pancytopaenia, lactic acidosis and tubulopathy, even in the absence of exocrine pancreatic deficiency.	has_symptom
+8f4b4db3a0fe24b808be23420a6e9d35b58836ca	Our patient had Robin sequence, atrial septal defect, @PHENOTYPICFEATURE$, scoliosis, and other findings previously associated with @DISEASE$.	has_symptom
+dd73f80d7116ef181b1d34902653a111a2a751cb	@DISEASE$ (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of @PHENOTYPICFEATURE$, short hands and feet and skin thickening.	has_symptom
+0612dc2fb76bf5f304afbc9430a87c950e73c6a9	Geleophysic (GD) and @DISEASE$ (AD) belong to the acromelic dysplasia group and are both characterized by @PHENOTYPICFEATURE$, short extremities, and stiff joints.	has_symptom
+053c51eea5237117d34e2194a912e037de487b2f	In case 1 @DISEASE$ was identified by the presence of oligohydramnios, @PHENOTYPICFEATURE$, and enlarged cerebral ventricles.	has_symptom
+c1456021c31ac99e295e2a26edbdfdb305223dc5	In case 1 Meckel syndrome was identified by the presence of oligohydramnios, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d3d7b4fa1fa246bab872fd41330b39013511c0e3	In case 1 @DISEASE$ was identified by the presence of oligohydramnios, microcephaly, and @PHENOTYPICFEATURE$.	false
+049c5857079f1ecb6327df58348d41943a2d5b3a	@DISEASE$, characterized by occipital encephalocele, @PHENOTYPICFEATURE$, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	has_symptom
+38dbe2f3009472c6e9fc2bd26f9945c16c4f30b0	Meckel-Gruber syndrome, characterized by occipital encephalocele, @DISEASE$, polydactyly, cleft lip or palate, @PHENOTYPICFEATURE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+863fc7ea34ff7beb094eb2fbe4be681eb8892782	@DISEASE$, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+8f0168ea3025063e95258d6ba21be2d03913a59a	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, @DISEASE$ or palate, @PHENOTYPICFEATURE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+f02050bad49cb351555336981443ae0455f91275	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+c5560bab68f3b3abfa4b903ea672409c994000f3	@DISEASE$, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, @PHENOTYPICFEATURE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+6edc86116825f47d88b039ac735fad135bdbc86d	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, cleft lip or @DISEASE$, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+f4dc3d9bc2df6ce08ce28fe9c71275a891617c08	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or @DISEASE$, @PHENOTYPICFEATURE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+85b541a644f08d727dda8ffdc5f38fe8a297ec1b	Meckel-Gruber syndrome, characterized by occipital encephalocele, @DISEASE$, @PHENOTYPICFEATURE$, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+789f9179802c1f51f42e1d9f2a35fe68445526c5	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	has_symptom
+94b7e772d5af71510130bc310be5a01983446ea7	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, @DISEASE$, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+5e5a330c291daf5e75dd5e2b4c7878f6e3a2389f	If a fetus is suspected to have @PHENOTYPICFEATURE$, @DISEASE$, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+87a00fcf593b5e5e0e47c619ec28cd9ee9c53578	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, Meckel-Gruber syndrome, @DISEASE$, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+82a58a8c6d7e615f286acd82353f6456e406e3bf	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+ee7c316fe757e9a586aa8f5a6fd7efb936bcf2c6	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or @DISEASE$, cardiac evaluation should be pursued.	false
+1fcd462362ed8a7c8dc69601e4dceba53250caed	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or @DISEASE$, cardiac evaluation should be pursued.	false
+5747e4e680c80569245b62abcbe7db453e30f267	If a fetus is suspected to have hydrocephalus, @DISEASE$, holoprosencephaly, @PHENOTYPICFEATURE$, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+08f9ac75d5278fe649b6220ff06e67bae0631538	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+84ddc92f24b93b9c0e85f5166b829335425ed8c4	@DISEASE$ (RRS) is a severe skeletal dysplasia with @PHENOTYPICFEATURE$, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	has_symptom
+4e17d6cd50f3b557b8b3fb04b8a12208f20289be	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with @PHENOTYPICFEATURE$, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	has_symptom
+63a28bf13bb141590dc15ac8c9249a2d3331f648	@DISEASE$ (RRS) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+a7d79c7b8b2d57f60de648350cf1195461d6e905	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with @DISEASE$, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+3883fe8367bda8ce5bb135ffc8f5c720dc00821b	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, @PHENOTYPICFEATURE$, and a dysmorphic @DISEASE$ appearance.	false
+472010d885ad58058e36e7475bb76edfe29484a0	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic @DISEASE$ appearance.	false
+6e00ca7fe30c75c6bdf051705e0fe79653066a35	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+2a3abe12189f812e913f648282332db0e1cfa455	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+bf772479cca03c6e7ac364873179be58d3543a7b	Autosomal recessive Robinow syndrome (RRS) is a severe skeletal dysplasia with @DISEASE$, generalized limb shortening, segmental defects of the spine, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	false
+b6ea37b81a23493540c1be1fb9bbf9605d39fc74	Autosomal recessive Robinow syndrome (RRS) is a severe @PHENOTYPICFEATURE$ with @DISEASE$, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+338f8fcf94fe84077ac9538e5ef6d7e7d46e018d	@DISEASE$ (RRS) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	false
+c775441d010ecddb38ebc3b98e249486ebbd4328	@DISEASE$ (RRS) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+fb24e1c83c8f6bcb70147bf2069d7289a5790d29	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with short stature, generalized limb shortening, segmental defects of the spine, @PHENOTYPICFEATURE$, and a dysmorphic facial appearance.	false
+dbaa408c58a26ad33b5786deed6a5889df449cd2	Autosomal recessive Robinow syndrome (RRS) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic @DISEASE$ appearance.	false
+46a7944e23b498b33413c13cb8c91e908b757c72	Recessive Robinow syndrome (@DISEASE$) is an extremely rare @PHENOTYPICFEATURE$ genetic condition with significant and characteristic oral, dental, and facial attributes that generally requires coordinated multidisciplinary dental and medical interventions.	has_symptom
+c9c7b801551b46d69a5b59ef3832e77df305c387	The differential of acute and recurring @PHENOTYPICFEATURE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	has_symptom
+4ee3671c8a2374ee34eddb151084509080ce2e00	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and @DISEASE$.	false
+557a9d2e670dc1f39d40845879f8776055173a50	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+a500462817173bf6af13db09c6eb609920415a1a	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, @DISEASE$ (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+36c1373dcb0309cab7d74732b802e95fe145157c	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+8991b6786275d63c5588e41e900b2a33579a168e	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, @DISEASE$, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+f0dcb711168ddc1f3ee4d879dbb2be47a91a7548	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, @DISEASE$, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+c5d24f23bdfafd688784f97d822825b38c26e379	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+96ce6afe40ea6e1bf0be4ca13106aea79a7ccc43	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+7ffded346dcbcf4bd08ef11ae093787a50c7ed1d	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+b71c4245de23e69d751d53251d1289a3e3153b8b	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult @DISEASE$, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+166dd1e23c8aec7968a555793c153bd74d2808cf	The differential of acute and recurring @DISEASE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+e92b53bb411a0488fbd58d456ce1611d389ac40e	Inherited retinal disease was the most common cause of inherited @PHENOTYPICFEATURE$ in 38 of 57 families (66.6%) with Leber's congenital amaurosis, rod-@DISEASE$ and cone-rod dystrophy being the most common diagnoses in 22, 8 and 3 families respectively.	has_symptom
+7a348fca96f8546e70c09e885ba04ef23e4765c2	Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), @DISEASE$ (COD), cone-rod dystrophy (CRD), color @PHENOTYPICFEATURE$, Stargardt disease (STGD) and other maculopathies.	has_symptom
+28c4f274686275a2068a9c5ee991be65306eb308	In patient 2, no effects of the KD on the @PHENOTYPICFEATURE$ frequency were noted and after 6 months the KD was discontinued.Concluding, the KD does not cause metabolic derangement, is well tolerated, and can be effective in patients with @DISEASE$ who are treated with a protein restriction.	has_symptom
+ae7b5a6b25e72a2d42f08a2dfe95eca8bb276195	This case was diagnosed incidentally, but in retrospect had symptoms best attributed in full or in part to his @DISEASE$, including protein aversion, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+057f5d4f6eca9ab5298690df55a0503d94e3ec41	Mutations in HOXA13 and HOXD13 are associated with disorders of limb formation such as hand-foot-genital syndrome (@DISEASE$), synpolydactyly (SPD), and @PHENOTYPICFEATURE$.	has_symptom
+dbcba0ab1e2fe0d1ef2429c73d63e9c40a4f9bef	Mutations in HOXA13 and HOXD13 are associated with disorders of limb formation such as @DISEASE$ (HFGS), synpolydactyly (SPD), and @PHENOTYPICFEATURE$.	has_symptom
+7509cb3bbaf5b064543f62f2963932fbec2dee0c	We experienced management of general anesthesia in a patients with @DISEASE$ (CS syndrome) which is an autosomal dominant disorder characterized by mental @PHENOTYPICFEATURE$ failure, hypoplasia of the fifth finger's distal phalanx and limb, and syndrome-specific facial appearance.	has_symptom
+3c9b770ef3825738cb6a27dceadaf29083fb427e	@DISEASE$ @PHENOTYPICFEATURE$ is often a rapidly progressive illness with high mortality, particularly among those with multilobar disease.	has_symptom
+9634ff6e218ed2976957443a26fe603924133463	@DISEASE$ @PHENOTYPICFEATURE$ and blast injury.	has_symptom
+85f0a63fc8e0afdaa6881f5c2cd0d19c7fb5b987	Using a murine model of @DISEASE$ (CML) induced by bone marrow transplantation of BCR-ABL-expressing hematopoietic stem cells, mice supplemented with EPA showed a decrease in the LSC population, and reduced splenomegaly and @PHENOTYPICFEATURE$, when compared with mice on an oleic acid diet.	has_symptom
+4965669651f624e5a347a7e1740b3a8c4953c994	Using a murine model of chronic myelogenous leukemia (CML) induced by bone marrow transplantation of BCR-ABL-expressing hematopoietic stem cells, mice supplemented with EPA showed a decrease in the LSC population, and reduced @PHENOTYPICFEATURE$ and @DISEASE$, when compared with mice on an oleic acid diet.	false
+9d2ce00ffe587e27cc85117ec7cc1e94ebed750a	Using a murine model of @DISEASE$ (CML) induced by bone marrow transplantation of BCR-ABL-expressing hematopoietic stem cells, mice supplemented with EPA showed a decrease in the LSC population, and reduced @PHENOTYPICFEATURE$ and leukocytosis, when compared with mice on an oleic acid diet.	false
+26450a97ddabff4849b87557e262ebd9a36bd3b5	Treatment with calcium ionophore A23187 resulted in significantly increased secretion of both substances in the @PHENOTYPICFEATURE$ cells but not in the @DISEASE$ cells.	has_symptom
+e456238c49d3bbf104f79c80eb398764a085dee4	High concentrations of GAWK-LI were also found in other types of endocrine tumors including carcinoid, @DISEASE$, pancreatic, and ACTH-producing @PHENOTYPICFEATURE$.	has_symptom
+e6ede1cc8cde432564d390528ed837186283d4a4	The studies were conducted in two cell lines, a @DISEASE$ (MTC) cell line and a @PHENOTYPICFEATURE$ (BEN) cell line.	has_symptom
+e0736f7bc614540ab11510e243ac931f3713fcf7	The @DISEASE$ (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and @PHENOTYPICFEATURE$.	has_symptom
+cc3abb427fd605f08fa600b725fe24c8d8069c40	The femoral facial syndrome (@DISEASE$) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and @PHENOTYPICFEATURE$.	has_symptom
+4dda98a1349f15285f265ff9b7a38655812c76ce	@DISEASE$ (FFS) is a congenital disorder, characterized by @PHENOTYPICFEATURE$ and femoral hypoplasia.	has_symptom
+5d79c137868a7bf42f3f0cd9db9552b45bab8569	Femoral-facial syndrome (@DISEASE$) is a congenital disorder, characterized by @PHENOTYPICFEATURE$ and femoral hypoplasia.	has_symptom
+eb99b9db90896a96a4ce7849c48cc7656e8e9284	@PHENOTYPICFEATURE$, hydatid disease and drug reaction were considered as possible etiologies of eosinophilia in case 1 and case 2. Case 3 was considered to fall into the "@DISEASE$" in which no underlying causes for eosinophilia could be identified.	has_symptom
+3698beadf268aa536ad9eaa89e1f6c5789c12256	: The predominant symptoms of inflammatory bowel disease (@DISEASE$) are diarrhoea, abdominal pain, gastrointestinal bleeding, @PHENOTYPICFEATURE$, malnutrition and fatigue.	has_symptom
+a6130f696f4b34b10011d9f87cecccbf606764a2	: The predominant symptoms of @DISEASE$ (IBD) are diarrhoea, abdominal pain, gastrointestinal bleeding, @PHENOTYPICFEATURE$, malnutrition and fatigue.	has_symptom
+8ee63c69b2eb2ba494c1b333cc49cd97d8e43cc2	: The predominant symptoms of inflammatory bowel disease (IBD) are @DISEASE$, @PHENOTYPICFEATURE$, gastrointestinal bleeding, weight loss, malnutrition and fatigue.	false
+2f65d8c0a40f540d69cb08f98201f69ab28a7d44	: The predominant symptoms of inflammatory bowel disease (IBD) are diarrhoea, @PHENOTYPICFEATURE$, gastrointestinal bleeding, @DISEASE$, malnutrition and fatigue.	false
+d48a8407d88ac3d9b53788ce99abc284c4ad85d6	: The predominant symptoms of @DISEASE$ (IBD) are diarrhoea, @PHENOTYPICFEATURE$, gastrointestinal bleeding, weight loss, malnutrition and fatigue.	false
+17fc2d36f7bb5246a0f428409c086f4a85e225f9	: The predominant symptoms of inflammatory bowel disease (@DISEASE$) are diarrhoea, @PHENOTYPICFEATURE$, gastrointestinal bleeding, weight loss, malnutrition and fatigue.	false
+10373b3faebaa3c43ee6046dc48e84f8dbf3a3b8	@DISEASE$ is a chronic illness with symptoms including abdominal pain, @PHENOTYPICFEATURE$, chronic diarrhea, hematochezia, and growth failure.	has_symptom
+93c53651b6b19286cfb64d034934ba58b15f202c	Inflammatory bowel disease is a chronic illness with symptoms including @PHENOTYPICFEATURE$, weight loss, @DISEASE$, hematochezia, and growth failure.	false
+2b433fadbac91b213a16d9e44a37c2f2d8c7ba05	Inflammatory bowel disease is a chronic illness with symptoms including @PHENOTYPICFEATURE$, @DISEASE$, chronic diarrhea, hematochezia, and growth failure.	false
+d9f81e7e0a75fb0057ae86f3e2fea3766325fd83	@DISEASE$ is a chronic illness with symptoms including @PHENOTYPICFEATURE$, weight loss, chronic diarrhea, hematochezia, and growth failure.	false
+91eed18b6fdc604f9d51f230fb79fecf790f24ce	@PHENOTYPICFEATURE$, abdominal pain, and diarrhea are common features but fail to distinguish a fistula from active @DISEASE$.	has_symptom
+58a28cc9e5408c0fedeffdab878eba41f648572b	Weight loss, @PHENOTYPICFEATURE$, and diarrhea are common features but fail to distinguish a fistula from active @DISEASE$.	false
+8e417358b5ec1437cf8d3a498fc2108b56a368b7	@DISEASE$, @PHENOTYPICFEATURE$, and diarrhea are common features but fail to distinguish a fistula from active inflammatory bowel disease.	false
+833b4147d3b8416784de5b7c03ffccb92ba439d2	Weight loss, @PHENOTYPICFEATURE$, and @DISEASE$ are common features but fail to distinguish a fistula from active inflammatory bowel disease.	false
+4755c1713c3fe2f72671c69b7279faab13466e49	The SaskIBD-NR, which assesses GI symptoms, food restriction, and @PHENOTYPICFEATURE$, adequately detects nutrition risk in @DISEASE$ patients.	has_symptom
+f9910c313beff80862de1c591a35319fbe45bdac	If a patient with @DISEASE$ under immunosuppressive treatment has ongoing symptoms such as fever, @PHENOTYPICFEATURE$, hypertension or high acute phase reactants, TA may be the cause.	has_symptom
+99e11a54abaa36ee03074c8779443f19f5be0f81	@DISEASE$ (IBD) has classically been associated with malnutrition and @PHENOTYPICFEATURE$, although this has become less common with advances in treatment and greater proportions of patients attaining clinical remission.	has_symptom
+40b966e8adb4788384526431175e95ff13761184	Inflammatory bowel disease (@DISEASE$) has classically been associated with malnutrition and @PHENOTYPICFEATURE$, although this has become less common with advances in treatment and greater proportions of patients attaining clinical remission.	has_symptom
+d3713532ca903044cd1977775b362a07d2860409	Paediatric @DISEASE$ (IBD) is associated with @PHENOTYPICFEATURE$, growth restriction and malnutrition.	has_symptom
+d783fc6a31b899c2693c03637284551642a071d8	Paediatric inflammatory bowel disease (@DISEASE$) is associated with @PHENOTYPICFEATURE$, growth restriction and malnutrition.	has_symptom
+a6de7798613acc6b6fc799fc6555eb1aec2c1216	He was then diagnosed with @DISEASE$, after presenting with @PHENOTYPICFEATURE$, diarrhea, and malabsorption, which required resumption of PN and infliximab treatment.	has_symptom
+6fad974eb341cdbe31e6b08c17a90c83d9cdcaf2	For example, @DISEASE$ can cause systemic inflammation, @PHENOTYPICFEATURE$, and extra-intestinal manifestations, such as decreased bone growth and density.	has_symptom
+632b982e39ce6e07ca808b527c2f0f8b0c0cd2f1	Symptoms related to @DISEASE$ often are present at onset (abdominal pain, @PHENOTYPICFEATURE$, bloody stools) but the liver disease is frequently asymptomatic and it may be discovered fortuitously.	has_symptom
+428988839858af854b1aa61eee89293bcd44292e	SIX2 gene haploinsufficiency leads to a recognizable phenotype with @PHENOTYPICFEATURE$, @DISEASE$, and conductive hearing loss.	has_symptom
+6125624a90af32703a4d60376db7fa2777c905f1	SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+14f9be15d758153e54e4abb20b0be48e5cefdc3f	SIX2 gene haploinsufficiency leads to a recognizable phenotype with @DISEASE$, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+d1e91f8749c5f37eda9cc45cd5c3f0d3ba379b7f	Opinions and clinical practices related to diagnosing and managing patients with @DISEASE$: An international survey of @PHENOTYPICFEATURE$ society members.	has_symptom
+1e3fa50fe2807ccd28c93273393b7024ed481294	This article focuses on the hyperkinetic movement disorders, particularly tremor, Wilson's disease, dystonia, tics and Tourette syndrome, chorea, myoclonus, neuroleptic-induced @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+50ae817801b494a5c0d137731a393b6b82bf6b1a	This article focuses on the hyperkinetic @PHENOTYPICFEATURE$, particularly tremor, Wilson's disease, dystonia, tics and Tourette syndrome, chorea, myoclonus, neuroleptic-induced movement disorders, and @DISEASE$.	has_symptom
+86915d0bd1e0e20f3d2ec03dbfc9e0d6ea80a0b4	The concept of @DISEASE$ refers to an unusual but well-known concept of @PHENOTYPICFEATURE$ caused by mental disorders.	has_symptom
+c24b696c44cf67da0b4b8ccf9d3049c077414291	@DISEASE$ (PMDs) represent 2% to 20% of patients with @PHENOTYPICFEATURE$.	has_symptom
+409a295bfa0033e7718fd4755f16d444dcb5b953	@DISEASE$ (PMD) represent a diagnostically challenging group of patients in @PHENOTYPICFEATURE$.	has_symptom
+9a0d5d88a70dc59666d0ba74335ed34a84398fab	@DISEASE$ is caracterized by inconsistent findings, a known precipitant factor, onset in legs, pain, multiple somatizations and incongruent association with other @PHENOTYPICFEATURE$.	has_symptom
+6a74a7316ec497bec120754426fa71f76cf22e2a	@DISEASE$ represents an uncommon diagnosis among patients with @PHENOTYPICFEATURE$.	has_symptom
+1044ab2cf80405d91ea5c0387c3189df16260fb3	@DISEASE$ (PMDs) can present with varied phenomenology that may resemble organic @PHENOTYPICFEATURE$.	has_symptom
+a64e3355441c6078fe985c427641a45502b53d33	In addition to the major categories, clinical pearls also cover drug-induced @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+a9a1904e2a4eb2bc40e26dd5d7093ec4a8d3688b	@DISEASE$ are @PHENOTYPICFEATURE$ that are the result of a psychiatric rather than a primary neurological disorder.	has_symptom
+376709655f28d55fbcc0ea0590f02fffb2c1468a	@DISEASE$ with @PHENOTYPICFEATURE$ and cardiovascular calcification.	has_symptom
+bcba58c7e07da07a56930e2ba31d8261bf8a8e3d	Clinical, neurochemical and neuropathological findings on a case of late-infantile @DISEASE$ with @PHENOTYPICFEATURE$, progressive myoclonus and prominent bulbar signs are reported.	has_symptom
+1950d56853abde7da0cb1d63c20dbf100d44d09b	D409H homozygosity has, so far, been associated with a unique type III subtype of @DISEASE$ that is characterized by the presence of devastating valvular heart disease, @PHENOTYPICFEATURE$, and, sometimes, features normally associated with mucopolysaccharidoses or oligosaccharidoses.	has_symptom
+4428475b167949c096db8483149a41f4fb2a9420	@DISEASE$ with @PHENOTYPICFEATURE$ and cardiovascular calcification (Gaucher type IIIC).	has_symptom
+bdb4111280643bc4fe81d2717a7f3d7b3b8859dd	They are mainly related to the prevalence and severity of some @PHENOTYPICFEATURE$ at birth, and in adulthood to the prognosis, incidence of @DISEASE$ and risks of pregnancy.	has_symptom
+c4443b5a91426f1c234413cc79469b018172e279	This defect accounts for 0.2% of all congenital @PHENOTYPICFEATURE$ and if left untreated can lead to @DISEASE$, severe pulmonary hypertension, heart failure, and poor survival.	has_symptom
+25de791897533e1063dbc89223f36582ccae81cc	This defect accounts for 0.2% of all congenital @DISEASE$ and if left untreated can lead to Eisenmenger syndrome, severe pulmonary hypertension, @PHENOTYPICFEATURE$, and poor survival.	false
+7017380e2c0e6dfa988e732f15e0a9bc1cac16d9	This defect accounts for 0.2% of all congenital cardiac anomalies and if left untreated can lead to @DISEASE$, severe pulmonary hypertension, @PHENOTYPICFEATURE$, and poor survival.	false
+3304794357f88b1a01fe00eaf6c8f08fa72d82a3	As the pathophysiologic patterns are similar, it is reasonable to use these drugs also in @DISEASE$ or in other @PHENOTYPICFEATURE$ with PAH related to initial high pulmonary flow.	has_symptom
+4b7e6801156589dcdf8293ea4d45fda0593d4e6a	The study included healthy volunteers (n?=?50) and patients with cyanotic @PHENOTYPICFEATURE$ classified as @DISEASE$ (n?=?41).	has_symptom
+84a5205a5bbf5058f21b9448ab6a0d34e195d754	Ventricular septal defect is the most common childhood @PHENOTYPICFEATURE$ and, if left untreated, this will result to irreversible pulmonary hypertension, reversing of the shunt and @DISEASE$.	has_symptom
+e18645ef6c0dd9b2b1f1589e86eac6ee36ab2106	Several patients with trisomy 21 developed the @DISEASE$ (ES) because the underlying @PHENOTYPICFEATURE$ was not corrected.	has_symptom
+4b5afc4b937f39257053c03abfe2d3cf2fd7e368	Endothelin receptor antagonists improve exercise tolerance and oxygen saturations in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+76d5471e5f77ebcea2fe1370c5318546bf240582	@DISEASE$ represents severe, irreversible, and end-stage pulmonary arterial hypertension (PAH) associated with @PHENOTYPICFEATURE$.	has_symptom
+3c8c7a5dae961f94a2822e36a10257ddea7e8840	Platelet abnormalities in adults with severe pulmonary arterial hypertension related to @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+0da31928dbc32d322522061826b39a09370573ba	@PHENOTYPICFEATURE$ in adults with severe pulmonary arterial hypertension related to @DISEASE$ (Eisenmenger syndrome).	false
+c2408305c525e5d5694d281c0a113d00a76d0198	@PHENOTYPICFEATURE$ in adults with severe pulmonary arterial hypertension related to congenital heart defects (@DISEASE$).	false
+700a1d4485c954a7370e73e7733d049d789084f3	@DISEASE$ (ES) is the most advanced form of pulmonary arterial hypertension (PAH) associated with @PHENOTYPICFEATURE$.	has_symptom
+53de24523b288e9ff07eaf12e627789d87a9c8c2	MICrocephaly, disproportionate pontine and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	has_symptom
+329c2517a2f5fb959c987fbb1231d93f8a3bdfac	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and @PHENOTYPICFEATURE$.	has_symptom
+e2c5c41a50a676815828ae253bc471152c6410c0	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) @DISEASE$, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @PHENOTYPICFEATURE$, and disproportionate pontine and cerebellar hypoplasia.	false
+c711be7eaf57cf7f5a1c818f735ff9feefec3975	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @PHENOTYPICFEATURE$, and disproportionate pontine and @DISEASE$.	false
+af749ecb5ad047eac0344cd473ea58556a27d219	MICrocephaly, disproportionate pontine and @DISEASE$ (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @PHENOTYPICFEATURE$, and disproportionate pontine and cerebellar hypoplasia.	false
+b0550f697ff48bd26197274c29c1c26329894826	MICrocephaly, disproportionate pontine and @DISEASE$ (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+5131085dfea7c5b8a6e2f5adfb93fd93df11c2b0	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+2d67bc3182bd0b2bd445399e46a3ad0dc5916599	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and @DISEASE$.	false
+ea6a2436dcd198c9adfd048a404cb90339c673e8	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, @PHENOTYPICFEATURE$, and disproportionate pontine and cerebellar hypoplasia.	false
+833c4916a47e7f7a3e26c80fbcac2799d3989daa	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) @DISEASE$, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+ed646fd6dc4ff95bcb21a494425bb3d287e0c411	@PHENOTYPICFEATURE$ and, secondly, vision complaints are the most frequent symptoms in patients with either a primary or a secondary orbital @DISEASE$.	has_symptom
+b8db5f53db9e7b16d9cf5bc9eb971097526909af	[Detection of SSA/Ro antibody in patients with @DISEASE$, discoid lupus erythematosus and @PHENOTYPICFEATURE$.	has_symptom
+ae752fbf1947494f65397757d706e2c20f28778f	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had @DISEASE$ (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, @PHENOTYPICFEATURE$ vasculitis, Raynaud's phenomenon).	has_symptom
+155f144be58e68010bac46d098916baff7c6afc6	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had @DISEASE$ (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, photosensitivity, skin @PHENOTYPICFEATURE$, Raynaud's phenomenon).	false
+9dc2b237d7a3367478ec7cd296f7d4149479a2d4	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had @DISEASE$; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, photosensitivity, skin @PHENOTYPICFEATURE$, Raynaud's phenomenon).	false
+cae9c13cda0c1f7d810fdc82f1bfcbfbff4e680f	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune @DISEASE$ (UAS) (arthralgia, myalgia, photosensitivity, skin @PHENOTYPICFEATURE$, Raynaud's phenomenon).	false
+9b4e0fbcec9984f7238993650318d068c814989d	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of @DISEASE$ (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, photosensitivity, skin @PHENOTYPICFEATURE$, Raynaud's phenomenon).	false
+ca95ea93e3eed024dd620422b3072a00efac6f71	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, @DISEASE$ @PHENOTYPICFEATURE$, Raynaud's phenomenon).	false
+539a793beb642c9cf6ed606fd3672622a58ea75b	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's @DISEASE$ (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, photosensitivity, skin @PHENOTYPICFEATURE$, Raynaud's phenomenon).	false
+1042e8c2d425db66e929792585898136ed2b3229	@DISEASE$ fever presents with a triad of @PHENOTYPICFEATURE$, headache, and rash.	has_symptom
+f14400ba79891b6ab372bba3b0f2ee0b1dd009e6	@DISEASE$ is becoming a frequent cause of @PHENOTYPICFEATURE$ in Czech travellers.	has_symptom
+b3e49d5dd2a135a8031e2d427db18d5bcfab7516	In terms of laboratory tests, leukopenia suggests @DISEASE$, chikungunya @PHENOTYPICFEATURE$ or influenza.	has_symptom
+06accd0dc402470c26cfd23d8e58928c7e7a1284	Infection may be asymptomatic or variably manifest as mild @DISEASE$ (DF) to the most severe form, Dengue haemorrhagic @PHENOTYPICFEATURE$ (DHF).	has_symptom
+c1f6b65f1f7897f93ab6f69d21a3d7e9b3dc0a63	Infection may be asymptomatic or variably manifest as mild Dengue fever (DF) to the most severe form, @DISEASE$ haemorrhagic @PHENOTYPICFEATURE$ (DHF).	has_symptom
+8abf210818749588b1093ece4c62568fc95b4bd5	@DISEASE$ and the differential diagnoses of rash, @PHENOTYPICFEATURE$, and headache following travel to the tropics.	has_symptom
+0b06fbb76450989c27309d6dcfca1ad47657b54a	@DISEASE$ should be considered in the differential diagnosis of @PHENOTYPICFEATURE$ and rash in the returning traveler.	has_symptom
+0259372fe68593ba761c3ec6e3c5a39a1987a00d	@DISEASE$ (DF) is characterized by @PHENOTYPICFEATURE$, intense headache, myalgias, arthralgias, rash, nausea and vomiting.	has_symptom
+38c45ff8b982797cb3b24d7b03fc67a4d7900764	@DISEASE$ (DF) is characterized by fever, intense headache, myalgias, arthralgias, rash, @PHENOTYPICFEATURE$.	false
+11503ea9c70cbf5578f82d001ed13544ada638d1	Dengue fever (DF) is characterized by @DISEASE$, intense headache, myalgias, arthralgias, rash, @PHENOTYPICFEATURE$.	false
+7d8cf478f9fe83e7c479ba3bcca06de69f387ebb	@DISEASE$ is a differential diagnosis in patients with @PHENOTYPICFEATURE$ and abdominal pain in an endemic area.	has_symptom
+c83eeeb892262725e369ffd2032c2387048221aa	An epidemic of @DISEASE$-like @PHENOTYPICFEATURE$, Townsville, 1954:  clinical features, with a review of the literature.	has_symptom
+4ed46061426f02e5d4b0f9e27498ba2153c81e72	@DISEASE$ is a self-limiting, nonspecific illness characterized by @PHENOTYPICFEATURE$, headache, myalgia, and constitutional symptoms.	has_symptom
+bc74e4d3a9b4c6e3cf84bec82dda74b2a0073677	We report the case of a 72-year-old woman with severe bilateral @PHENOTYPICFEATURE$ and facial palsy caused by @DISEASE$ that was present for more than 29 years.	has_symptom
+497c3cd425aa4c65af1d6dc2614dfe3ba3af8133	@DISEASE$ is characterized by the adult onset of @PHENOTYPICFEATURE$, external ophthalmoplegia, dysphagia, and distal weakness.	has_symptom
+8fabd85eeaad67506afdd931a87a897b3ea99255	Borjeson-Forssman-Lehmann syndrome (@DISEASE$) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable cognitive impairment, a distinct facial gestalt, @PHENOTYPICFEATURE$, and hypogonadism.	has_symptom
+72528e1f79ae8d41ab15c5c5160dae1dd8dacf22	@DISEASE$ (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable cognitive impairment, a distinct facial gestalt, @PHENOTYPICFEATURE$, and hypogonadism.	has_symptom
+1e995cda42a05362c44d3db3af54f2433d6519f4	Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable @PHENOTYPICFEATURE$, a distinct facial gestalt, @DISEASE$, and hypogonadism.	false
+d32703f6b5967f67ec6f3f51a7dfc1cc129ff262	Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable @PHENOTYPICFEATURE$, a distinct facial gestalt, obesity, and @DISEASE$.	false
+9c8d60b6851173f2a9d092ace8652e4341221761	Borjeson-Forssman-Lehmann syndrome (@DISEASE$) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable @PHENOTYPICFEATURE$, a distinct facial gestalt, obesity, and hypogonadism.	false
+64b0723857e3a3212809b08e792dc44cd9a90bb3	@DISEASE$ (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable @PHENOTYPICFEATURE$, a distinct facial gestalt, obesity, and hypogonadism.	false
+efb8eb4c21e56bf0cda421dab17b4d75f5368773	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	has_symptom
+42df80477769ac6fc9819a903d0a19920422bf05	B?rjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, @DISEASE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+42d9eccf6990c71ca8b377fc20d9785fc3d69b10	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+ba37bfe2cdcb09b61a7d8169f3923cfc363757dd	B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+309d24b07c77b98b301312f0d665279b2b122266	B?rjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, hypogonadism, hypometabolism, @DISEASE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+53bc6dc5c9ed5c4ad12691aaee8827a94ada6098	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+94feff2ae40fb90e3db91c231266d2fa388bf80b	B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+8603ac334b5e915cc757928585b7f75ea336330f	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	has_symptom
+becfd507327116aa7b8b33b29d83f50f95845329	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @PHENOTYPICFEATURE$, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+ec7f669b8eabab5a4fe95bf367760c443e0a025b	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+5df3400a8c8faed244e54f56a4c556a7fb95db45	The usual description of the B?rjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @PHENOTYPICFEATURE$, @DISEASE$, gynecomastia, tapering fingers, and shortened toes.	false
+1171dad9ac6b1cf2a489d74a89447c5e7b190bd6	The usual description of the B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+39f3f6faa46e5d20d7267070fa6ba8dc9e864951	The usual description of the B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @PHENOTYPICFEATURE$, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+cf7c162d45ae930afeb2934faae8cf5b870d2930	The usual description of the B?rjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, short stature, @DISEASE$, gynecomastia, tapering fingers, and shortened toes.	false
+d505a00ae29435e7fb111db5fdac6a396d4537c2	Constitutional @PHENOTYPICFEATURE$ and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and @DISEASE$ as well as some rarer disorders.	has_symptom
+0b46b099b82897a8591a7da1dbac253bdf8cb39c	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, @DISEASE$, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+acc525f7ec45577e54189ca1ec9f098195e88640	Constitutional @DISEASE$ and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+fe0f74fe60e995bd001c185cd63845d7c4f00a91	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly @DISEASE$, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+9597b9c86f3bfa3ec34ad52fbc515072c664add5	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, @DISEASE$, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+dd2496f1e475ac58f7500c271898cced131d0f41	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, @DISEASE$, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+9a96a357679b65c493f64e6aa8a7cd807381f0f6	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly syndromes, including @DISEASE$, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+ff1b87121c3c6d8dcf28155380ec9bb9228e362f	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and @DISEASE$ as well as some rarer disorders.	false
+c45f8af0b5667a2de8c6003db7550acfd520557c	Constitutional obesity and @PHENOTYPICFEATURE$ cooccur in several multiple @DISEASE$ syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders.	false
+7f6d05087cb98b0aa537881405506e3846245090	The deletion of a gene or genes on chromosome 22q11 is responsible for the @DISEASE$ (VCFS), which is associated with cardiac anomalies, @PHENOTYPICFEATURE$, palate abnormalities, learning disabilities, and developmental delay.	has_symptom
+1663a452c9536bc98a1c7ca953dfe33f658b2c04	The deletion of a gene or genes on chromosome 22q11 is responsible for the velocardiofacial syndrome (VCFS), which is associated with cardiac anomalies, @DISEASE$, @PHENOTYPICFEATURE$, learning disabilities, and developmental delay.	false
+18831f820ea878e6792cb7601e8b32be0415bba3	The deletion of a gene or genes on chromosome 22q11 is responsible for the @DISEASE$ (VCFS), which is associated with cardiac anomalies, short stature, @PHENOTYPICFEATURE$, learning disabilities, and developmental delay.	false
+08a18d26bda9bd356ab5df1f3611b201a231afa6	The deletion of a gene or genes on chromosome 22q11 is responsible for the @DISEASE$ (VCFS), which is associated with @PHENOTYPICFEATURE$, short stature, palate abnormalities, learning disabilities, and developmental delay.	false
+49db6a8345261689143630b0a29ec42154da2caa	The deletion of a gene or genes on chromosome 22q11 is responsible for the velocardiofacial syndrome (VCFS), which is associated with @PHENOTYPICFEATURE$, @DISEASE$, palate abnormalities, learning disabilities, and developmental delay.	false
+a466594650593c80fe87a5187f620588d9997f22	The majority of the hearing loss is a conductive hearing loss, with the exception of @DISEASE$ where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of @PHENOTYPICFEATURE$.	has_symptom
+49b69d172cfa5208d1809e1ec746a199c27eae75	The majority of the hearing loss is a conductive hearing loss, with the exception of @DISEASE$ where the majority of patients have a @PHENOTYPICFEATURE$ and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.	has_symptom
+0dacd98382c033527fc7191bdcb89821636eb6d4	The majority of the hearing loss is a @PHENOTYPICFEATURE$, with the exception of Muenke syndrome where the majority of patients have a @DISEASE$ and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.	false
+9046761ce768594f851a0f84a41705f9ccaa5de1	The majority of the hearing loss is a @PHENOTYPICFEATURE$, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of @DISEASE$.	false
+47d337515f25d25a9d1f00d2fbd74ab132a0d3f2	The majority of the hearing loss is a @PHENOTYPICFEATURE$, with the exception of @DISEASE$ where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.	false
+f502d29a08ba3bc46e034e942fc3e23eee0df416	The majority of the hearing loss is a @PHENOTYPICFEATURE$, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and @DISEASE$ where almost half of patients have a pure or component of sensorineural hearing loss.	false
+0c9f0ed7a35241a43a142906e48b9aea03d7e031	@PHENOTYPICFEATURE$ can occur in all 4 syndromes studied but is the primary cause of hearing loss in children and young adults with @DISEASE$.	has_symptom
+ed3feeb1874f56b67a2dbbde7d31abffd67de666	Anomalies in patients with @DISEASE$ include craniosynostosis, hypertelorism, @PHENOTYPICFEATURE$, and developmental delay, among others.	has_symptom
+0d974e1147fc43cf294db613c78f4409bcfccd82	Anomalies in patients with @DISEASE$ include craniosynostosis, @PHENOTYPICFEATURE$, sensorineural hearing loss, and developmental delay, among others.	false
+6f117312d4b78f08e6c81acedefbaaa9aa27875c	Anomalies in patients with Muenke syndrome include craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, and developmental delay, among others.	false
+7788da3071969a24fc254e62f8665061a9547645	Anomalies in patients with Muenke syndrome include @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss, and developmental delay, among others.	false
+63060162c55d2a8ebcb1123ac4c0f604317f5c6b	In addition, @PHENOTYPICFEATURE$ is detected in all FgfR3 (P244R) mutant mice as in the majority of @DISEASE$ patients.	has_symptom
+81a008e46f9958febe095a26f568eb0cf9267f8c	@PHENOTYPICFEATURE$ at lower frequencies was found only in patients with @DISEASE$.	has_symptom
+d4facaa6489faa73dd0ffc93488eb1c71c77e664	P250R mutation in the FGFR3 gene also known as @DISEASE$ is associated with coronal craniosynostosis, @PHENOTYPICFEATURE$, craniofacial, and digital abnormalities.	has_symptom
+ee1f844d9bb930e5a343738804db576ebb03127e	In this report, we present a very rare entity of @DISEASE$, which is a cause of protein-losing enteropathy and @PHENOTYPICFEATURE$ in infancy, and review the relevant literature.	has_symptom
+bce20f16fd48058337f69a3c3e69d7ad19e67725	We present a very rare entity, @DISEASE$, a cause of joint contracture, protein-losing enteropathy, and @PHENOTYPICFEATURE$ in infancy with a review of the relevant literature.	has_symptom
+0bcd678c12bf01875e2a6febe4bcc1f0fd817838	We present a very rare entity, @DISEASE$, a cause of @PHENOTYPICFEATURE$, protein-losing enteropathy, and growth retardation in infancy with a review of the relevant literature.	false
+6ef6a5a7cc2c4375351310f398d85f07c3aca2e9	We present a very rare entity, infantile systemic hyalinosis, a cause of @PHENOTYPICFEATURE$, protein-losing enteropathy, and @DISEASE$ in infancy with a review of the relevant literature.	false
+1e750b906061a697534f5a93ba939272cb8527f8	@DISEASE$ (MD) is a rare movement disorder characterized by @PHENOTYPICFEATURE$, dystonia and a variety of psychiatric symptoms.	has_symptom
+ca8f8a708f967ab5c25e25b7478a1450ce39b04d	Myoclonus-dystonia (MD) is a rare @PHENOTYPICFEATURE$ characterized by @DISEASE$, dystonia and a variety of psychiatric symptoms.	false
+d17948f99e3dcebf391281fbb9c3a5982d1bb286	Myoclonus-dystonia (MD) is a rare @PHENOTYPICFEATURE$ characterized by myoclonic jerks, @DISEASE$ and a variety of psychiatric symptoms.	false
+d10d1345c4d150b78540781d3e728ac9197c163a	@DISEASE$ (MD) is a rare @PHENOTYPICFEATURE$ characterized by myoclonic jerks, dystonia and a variety of psychiatric symptoms.	false
+69f5b6a4e6dd15b2d1689c08b3ab07a0023d875a	@DISEASE$ (MD) is a movement disorder characterized by @PHENOTYPICFEATURE$, dystonic postures and psychiatric co-morbidity.	has_symptom
+cdb4ec151a2fc9ace365697ab9d08837fbccbc36	@DISEASE$ (MD) is a @PHENOTYPICFEATURE$ characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity.	false
+50213f2cb5a8741b12cf254087cbd2527f2b5fc9	Myoclonus-dystonia (MD) is a @PHENOTYPICFEATURE$ characterized by myoclonic jerks, @DISEASE$ postures and psychiatric co-morbidity.	false
+ef29e193426ff95690cd6dcb0fa2fe2f0c4ebf64	Myoclonus-dystonia (MD) is a @PHENOTYPICFEATURE$ characterized by @DISEASE$, dystonic postures and psychiatric co-morbidity.	false
+891ee9ee113a90c766c3d68dc0f026458bd7ef6e	Essential @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+f0f96a22a4e1c323c3b0d9855b2e5767a4737cc2	@DISEASE$ (M-D) due to SGCE mutations is characterized by early onset @PHENOTYPICFEATURE$, often associated with dystonia.	has_symptom
+4a7cf2d04183d50ef6bdaf80674c0f54877b4de8	Inherited @DISEASE$ (M-D) is a disorder that is characterized primarily by @PHENOTYPICFEATURE$ and is often accompanied by dystonia.	has_symptom
+cdc0eef92ee282d25696537535aa9f940f77fce4	@DISEASE$ (MDS) is an autosomal dominant disorder characterized by bilateral @PHENOTYPICFEATURE$.	has_symptom
+891ee9ee113a90c766c3d68dc0f026458bd7ef6e	Essential @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e93d57b236023a73b2933e0300927718060d8e4d	Distal @PHENOTYPICFEATURE$ and late onset in a large Dutch family with @DISEASE$.	has_symptom
+3a27b7faf9c900de3d80c4160c7ae7b532b4243a	@DISEASE$ (M-D) is characterized by early onset @PHENOTYPICFEATURE$ and dystonia.	has_symptom
+10ea2456bad6e3615349ff5ab547439e5a6825ac	In contrast to @DISEASE$, sporadic essential @PHENOTYPICFEATURE$ is considered to be more heterogeneous, especially in the various associated symptoms.	has_symptom
+e23f129f6600097c4f007dc36be587246fafcb23	Patients with @DISEASE$ (CF) are at high risk of nephrolithiasis (NL), but controversy still exists in terms of causes, including low urine output, @PHENOTYPICFEATURE$, hyperoxaluria, hyperuricosuria and hypocitraturia.	has_symptom
+34707679a9fb5f8cdc45d616e9023aa3ffa4260d	@PHENOTYPICFEATURE$ and nephrocalcinosis in @DISEASE$ patients.	has_symptom
+acba4a727d88e3f928949c4d0b4e63e0b1348a3f	Analysis of our data indicates that both spatially and temporally disrupted activities of the Shh pathway are the primary cause for the variable @PHENOTYPICFEATURE$ seen in patients with Ellis-van Creveld syndrome or @DISEASE$.	has_symptom
+4079ff891531ac822d91471b87bebec857bd2b08	Whirlin is the causative gene for @DISEASE$ (USH2D), a condition manifested as both retinitis pigmentosa and @PHENOTYPICFEATURE$.	has_symptom
+606278cd79686da542a63c772fe513ebe3dc3011	Idiopathic epilepsies with seizures precipitated by @PHENOTYPICFEATURE$ and @DISEASE$1A abnormalities.	has_symptom
+18ec4c69e3eadb8fed5f6065f37156f85125ad41	Idiopathic epilepsies with @PHENOTYPICFEATURE$ precipitated by fever and @DISEASE$1A abnormalities.	false
+07376e250ac3cff19cf6243db4028c3dd8736497	Idiopathic epilepsies with @PHENOTYPICFEATURE$ precipitated by @DISEASE$ and SCN1A abnormalities.	false
+240acb3f37d326eda0cb69c169eaf00898be4f50	We present a case of a child with @DISEASE$ and jaw-winking @PHENOTYPICFEATURE$.	has_symptom
+6f163ad77e5a397851c760c10350b39f618453bf	The @DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot.	has_symptom
+ad5d0ba228488fbb0707796e5ea820ee08d5edd2	The @DISEASE$ is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and @PHENOTYPICFEATURE$.	false
+f514189decc7f24aaa42aa232251af51143def16	The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by @DISEASE$, Robin sequence, cleft mandible, pre/postaxial anomalies and @PHENOTYPICFEATURE$.	false
+247ddbed3a9625a30e8bd5b6227b45c119d5222e	Diagnoses leading to @PHENOTYPICFEATURE$ in these 23 children were congenital nephrotic syndrome of the Finnish type (13), polycystic kidney disease (4), a urethral valve (3), renal insufficiency due to neonatal asphyxia (2) and @DISEASE$ (1).	has_symptom
+ad73e6fc277d452cc9b3b5a4308558cf5b1a54aa	@PHENOTYPICFEATURE$ was caused by posterior urethral valves in four patients, and in one patient @DISEASE$.	has_symptom
+34c8a1e0a943991abab2c179f784ebb622cff017	Group 1: 9 pregnancies were terminated for potential @PHENOTYPICFEATURE$ (6 posterior urethral valves (PUV), 1 @DISEASE$, 2 cases of recessive polycystic kidney disease (PKD).	has_symptom
+d67a3a621e7de2655fd43601eb612234ac344227	Mechanisms of the @PHENOTYPICFEATURE$ in @DISEASE$, however, remain unknown.	has_symptom
+dd604120ca09c928bd0d4a09849f9119cefdcca8	A patient with a family history of molecularly confirmed Sorsby fundus dystrophy (@DISEASE$) presented with 9 years of progressive, bilateral central @PHENOTYPICFEATURE$.	has_symptom
+8868429d3dd24f6f2bcf87b1358273a790355274	@DISEASE$ (SFD) is an autosomal dominant macular dystrophy which is developed usually in the third or fourth decade of life, and is characterized by central @PHENOTYPICFEATURE$ and nyctalopia due to fundus changes of exudative or atrophic macular lesions.	has_symptom
+e2e4665fa06aff0a3c3544ebbbdefca28950d8c8	Sorsby's fundus dystrophy (@DISEASE$) is an autosomal dominant macular dystrophy which is developed usually in the third or fourth decade of life, and is characterized by central @PHENOTYPICFEATURE$ and nyctalopia due to fundus changes of exudative or atrophic macular lesions.	has_symptom
+0a4c8c047f6b903ed89c3940c51de982ce982401	@DISEASE$ describes the condition in which an autosomal-dominant inherited macular dystrophy with bilateral central @PHENOTYPICFEATURE$ is accompanied by progressive atrophy of the peripheral choroid and, subsequently, the outer retina.	has_symptom
+604ab63c93468ebe2407cbbae2d53997b228d68b	We report a case of @DISEASE$, manifested with central @PHENOTYPICFEATURE$ in the fifth decade of life.	has_symptom
+736d6118973d6d1085dd69ee8a8a49ffb2f22406	We report a patient with @DISEASE$, @PHENOTYPICFEATURE$, and hemodynamic instability requiring a left ventricular assist device (TandemHeart(?)) followed by improvement of left ventricular ejection fraction to 45%.	has_symptom
+9a79f046c52aceda319c10631e44b7663fb825dd	Midventricular @DISEASE$ associated with @PHENOTYPICFEATURE$ during general anaesthesia in a 34-year-old woman: Insight from cardiac computed tomography and magnetic resonance imaging.	has_symptom
+f1de22a3e068d56d07ba11824c68577dad908739	In patients with @DISEASE$, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute congestive heart failure, respiratory insufficiency with congestive heart failure, cardiogenic shock, @PHENOTYPICFEATURE$/cardiac arrest, and intraaortic balloon pump placement).	has_symptom
+8085351cd2bb3592f504411013316c4a09babbe5	In patients with @DISEASE$, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute @PHENOTYPICFEATURE$, respiratory insufficiency with congestive heart failure, cardiogenic shock, ventricular fibrillation/cardiac arrest, and intraaortic balloon pump placement).	false
+8d0319f2bb5f0c0709caf07246f3d6cb743dfc8f	In patients with takotsubo cardiomyopathy, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute congestive heart failure, respiratory insufficiency with @PHENOTYPICFEATURE$, cardiogenic shock, ventricular fibrillation/@DISEASE$, and intraaortic balloon pump placement).	false
+5a04d6e059571d0410cbfbc6467ae538a3d5cad2	In patients with takotsubo cardiomyopathy, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute @PHENOTYPICFEATURE$, respiratory insufficiency with congestive heart failure, cardiogenic shock, @DISEASE$/cardiac arrest, and intraaortic balloon pump placement).	false
+022d5efec5ba9e65eb226084dd11045100d54801	In patients with takotsubo cardiomyopathy, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal @DISEASE$ insufficiency, and noncardiac surgery), and acute complications (acute congestive heart failure, respiratory insufficiency with @PHENOTYPICFEATURE$, cardiogenic shock, ventricular fibrillation/cardiac arrest, and intraaortic balloon pump placement).	false
+219658bcb13dfdfba51b852de66c828cb980bb34	In patients with takotsubo cardiomyopathy, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute @PHENOTYPICFEATURE$, respiratory insufficiency with congestive heart failure, cardiogenic shock, ventricular fibrillation/@DISEASE$, and intraaortic balloon pump placement).	false
+e3f55ac0de33d90058d0db7af76b46415c6560f8	In patients with takotsubo cardiomyopathy, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal @DISEASE$ insufficiency, and noncardiac surgery), and acute complications (acute @PHENOTYPICFEATURE$, respiratory insufficiency with congestive heart failure, cardiogenic shock, ventricular fibrillation/cardiac arrest, and intraaortic balloon pump placement).	false
+a7eda0759d7851cffca5dc542c572d26db383ac0	In patients with takotsubo cardiomyopathy, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute congestive heart failure, respiratory insufficiency with @PHENOTYPICFEATURE$, cardiogenic shock, @DISEASE$/cardiac arrest, and intraaortic balloon pump placement).	false
+fb07bb6c78c3a26a9aa1dd86289401541a98599b	In patients with @DISEASE$, we assessed demographic factors, the prevalence and associated mortality of underlying critical illnesses (acute ischemic stroke, sepsis, acute renal failure, respiratory insufficiency, and noncardiac surgery), and acute complications (acute congestive heart failure, respiratory insufficiency with @PHENOTYPICFEATURE$, cardiogenic shock, ventricular fibrillation/cardiac arrest, and intraaortic balloon pump placement).	false
+bcfcca6751044d7d6e83d3c9e5a56049ada3709d	@DISEASE$ and combined mechanism @PHENOTYPICFEATURE$.	has_symptom
+d0de4ce3e1ccf0641ccc623cd1b63588956b90a1	Intrafamilial clinical variability in type C brachydactyly: In this report we describe a 4-generation family in which three members present variable clinical and radiological manifestations of @DISEASE$. The observation of 'skipped generations' in the present family and in a few other families reported previously, may indicate that @PHENOTYPICFEATURE$ type C is not a true autosomal dominant condition due to mutations in a single gene.	has_symptom
+fcd7c4e2cb7a4c1ca9b665e3b4ecf18c7183b961	Mutations in GDF5, a member of the BMP/TGF-beta ligand family, cause @DISEASE$ (BDC) whereas mutations in the receptor for GDF5, BRI-b, cause @PHENOTYPICFEATURE$ type A2 (BDA2).	has_symptom
+daef63c879f82f64941f242f365ddc2b7d686cd2	We report on a @PHENOTYPICFEATURE$ Type C (@DISEASE$) patient with clinically inconspicuous parents.	has_symptom
+d5154010b43fd7b6bac3960a5eb41246b7706d7d	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in @DISEASE$ and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, @PHENOTYPICFEATURE$, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	has_symptom
+ad6a60d963c5717003a5df54204c7e66fb667a16	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (@DISEASE$), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+f2f6d32e19089c674aa7c437c73adb91dd47ee58	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as @DISEASE$ (ASPED), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+77d5e8a0456b1c63a2d1c3af7df83522b754fb1a	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in @DISEASE$ and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+e487812d5281729ae4b3ca8deb20f1e73e1aa2c8	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, @DISEASE$, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+097fb14c6d26e561792219a75eec731100fd29ce	@PHENOTYPICFEATURE$ is characteristic of @DISEASE$, or mucopolysaccharidosis type IH (MPS IH).	has_symptom
+0c56ab3eed6fdbca9de817fd641939d568313683	Laronidase (Aldurazyme) is a recombinant formulation of alpha-L-iduronidase, the enzyme deficient in @DISEASE$ (MPS-I); a disorder associated with skeletal dysplasia, restricted joint movement, @PHENOTYPICFEATURE$, obstructive pulmonary disease, cardiac valvular problems and cognitive impairment (in the severe and intermediate variants).	has_symptom
+fd2ddc243289fb23fc7e056712605e5b6d85acbd	Laronidase (Aldurazyme) is a recombinant formulation of alpha-L-iduronidase, the enzyme deficient in @DISEASE$ (MPS-I); a disorder associated with @PHENOTYPICFEATURE$, restricted joint movement, short stature, obstructive pulmonary disease, cardiac valvular problems and cognitive impairment (in the severe and intermediate variants).	false
+f611899be539f690e68eb0713bee2785cbc93ad1	Laronidase (Aldurazyme) is a recombinant formulation of alpha-L-iduronidase, the enzyme deficient in mucopolysaccharidosis type I (MPS-I); a disorder associated with @PHENOTYPICFEATURE$, restricted joint movement, @DISEASE$, obstructive pulmonary disease, cardiac valvular problems and cognitive impairment (in the severe and intermediate variants).	false
+513909f96768b279113f127a148576e1e286b744	@PHENOTYPICFEATURE$ as a presenting symptom of attenuated @DISEASE$: case report and clinical insights.	has_symptom
+6d5d0804c95d2478d69a173efb2c490acd964f2f	The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with @DISEASE$ who were treated at our institution with GH for @PHENOTYPICFEATURE$ or GH deficiency between 2005 and 2008.	has_symptom
+38f256a76448830a6ed6d7f5c3a200b817401616	The baby was born in week 29 and developed polyuria with hyponatremia, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5e20d200ebae62c0bd1dbb70f3c2c2465620a208	@PHENOTYPICFEATURE$ was much more prevalent than in patients with other causes of @DISEASE$, affecting 33 of 58 (57%) patients.	has_symptom
+701a53058ef320fcbb6b1f3672b66e1a9b426641	Recent-onset hypertension, spontaneous @PHENOTYPICFEATURE$, and diabetes mellitus suggested severe @DISEASE$ as the underlying disease.	has_symptom
+b46dd7d6fe39f093353a6ece57c107048eedff70	@PHENOTYPICFEATURE$ and alkalosis in adipsic hypernatremia are not associated with @DISEASE$.	has_symptom
+9ab3d5e7b88dc10d2a6ee093f1a5449031534040	This is a very rare case of periodic @PHENOTYPICFEATURE$ and hypertension caused by cyclic @DISEASE$.	has_symptom
+525c9184c7d4d25fbee37f891f846240a979877b	A 9-year-old boy had hypertension, @PHENOTYPICFEATURE$, hyporeninemia and @DISEASE$.	has_symptom
+58ebc14cb4cdae8b8269290c656783d0074b8801	It is classically associated with @PHENOTYPICFEATURE$, hypomagnesemia, hypocalciuria, hyperreninemia, and @DISEASE$.	has_symptom
+161c33aed14f976ded42ac41ed75a47fe4e02ae2	It is classically associated with @DISEASE$, @PHENOTYPICFEATURE$, hypocalciuria, hyperreninemia, and hyperaldosteronism.	false
+06ecad1c78d462052afcbcc6dea71fd7fde41cf7	It is classically associated with hypokalemia, @PHENOTYPICFEATURE$, hypocalciuria, hyperreninemia, and @DISEASE$.	false
+7555aa1eb2059248c4f01b22a534f58eacef8582	[On the clinical, biochemical and morphological classification of the primary normokalemic and @PHENOTYPICFEATURE$ @DISEASE$].	has_symptom
+4af029a1545e8d723ac783bac30051e33a1ad28a	Laboratory examination showed severe hypoxemia, hypercapnea, metabolic alkalosis, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+bd2e8686a09ba60035f6b10ce486a2de21b25493	Two patients were found who had severe @PHENOTYPICFEATURE$ @DISEASE$ who had elevation of serum creatine kinase activity.	has_symptom
+dc085ae452a507b1cb8372730ff32cdda6e15e8d	When compared with other neurocardiofaciocutaneous syndromes, @DISEASE$ patients showed a higher prevalence of hypertrophic cardiomyopathy and cutaneous abnormalities, and a lower prevalence of pulmonary valve stenosis and @PHENOTYPICFEATURE$.	has_symptom
+2428001be9123145a2cd078d0ee68f78b473e690	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of @PHENOTYPICFEATURE$, the same spectrum of congenital heart defects, and a similar pattern of craniofacial anomalies.	has_symptom
+c96c43f64e1d5569bc6bafd4be156c5f25492115	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of @DISEASE$, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+d9354ff7ddbfe366cb4eeb827e9de5f9e70b4527	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, @DISEASE$ and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+4a771684a7dceec35c18fa468c6a4ec289f71a53	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and @DISEASE$ share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+d1ae88708f4ba9800b82c57d71c58498469aa30b	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, @DISEASE$, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+afb8e2f8cc214c412c4705f3009ba8fc7630b553	@DISEASE$ (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+17d8753e317b349d5078761a386b7a0522c7d710	We report the case of a 14?years and 8?months girl, who is the first child of nonconsanguineous parents, with @PHENOTYPICFEATURE$, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, downslanting palpebral fissures, low-set ears, short neck, and pectus excavatum; all features suggestive of @DISEASE$ (NSML).	has_symptom
+ee256dbf1c28ac09e947beb20b879f20e1ced4aa	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as @PHENOTYPICFEATURE$, hypertelorism and heart defects.	has_symptom
+59baf3cf784b6c30ab012b6679bfc3b30245772d	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+d3ca0ff5ca749003b0b4d731cff0a66cdde9a399	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, @PHENOTYPICFEATURE$ and heart defects.	false
+658310807a05d315ed9430d0686c8aa600c5b217	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as short stature, @PHENOTYPICFEATURE$ and heart defects.	false
+fa8b1939ffafe823d7e1aea069282ecff3a604ec	@DISEASE$ (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+0489a267722a5516425fc8840247eb54e28688be	Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as @DISEASE$, hypertelorism and @PHENOTYPICFEATURE$.	false
+74a0518ef74371ab098a81a6bab7a8f795fc7614	Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as @DISEASE$, @PHENOTYPICFEATURE$ and heart defects.	false
+aeb84d55b9fd65786763861459e40dd7963b00cd	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+04a66b733ec0ed5399b35f0a4f01100e4ff21099	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @PHENOTYPICFEATURE$.	has_symptom
+f8c882807a716482023b5c785e4624bc60df55df	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+78fcc20436d32da0480d0386f4ee913d6ccb6476	@DISEASE$ (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+14e9d36156513c94e14db9392ef67aa8671ab15f	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @DISEASE$.	false
+3bb1345e882fa53db92e1ba44fabdc453eacdbfe	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and @DISEASE$.	false
+2cb703bba53c3f75cd34d3e3ccd6375fcac55a7e	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, @PHENOTYPICFEATURE$; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+0317010c9e6269e083bad381fdd4f4c841f351b7	LEOPARD syndrome (multiple Lentigines, Electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, sensorineural Deafness; LS), also called @DISEASE$ (NSML), is a rare autosomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphism, and short stature.	false
+926b229b36bd1865033a7c2bd42c0d400ace079f	@DISEASE$ patients display distinctive features apart from multiple lentigines, such as a higher prevalence of hypertrophic cardiomyopathy and lower prevalence of @PHENOTYPICFEATURE$.	has_symptom
+1845eb4dc1e01bd783600cb4bd042e144549ddd4	Various syndromic forms of @PHENOTYPICFEATURE$ have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, and @DISEASE$.	has_symptom
+d4e05f6a08eb13b337f6b9024ab8020ab4348e0a	We report on a fetus with @DISEASE$ diagnosed during the 21st gestational week, @PHENOTYPICFEATURE$ and bilateral hyperechogenic kidneys were then detected on ultrasonography.	has_symptom
+c14cb32963ac693a25a9b07d27cf99f5c117062e	We present two sisters whose malformations (@PHENOTYPICFEATURE$, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the @DISEASE$.	has_symptom
+b01c47492ec9c06d23731dc957b4df313e337a60	We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, @PHENOTYPICFEATURE$, and cleft palate) are consistent with a diagnosis of the @DISEASE$.	false
+7b3a2250af62e533d1398f8c2a145cd0334560a9	We present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and @PHENOTYPICFEATURE$) are consistent with a diagnosis of the @DISEASE$.	false
+76512f9509196b9b52c2a9a30bc6eab42c2062dd	We present two sisters whose malformations (@DISEASE$, cystic dysplasia of the kidneys, @PHENOTYPICFEATURE$, and cleft palate) are consistent with a diagnosis of the Meckel syndrome.	false
+47a7c94cb71894e5c69369859a56c466057a33d6	We present two sisters whose malformations (@DISEASE$, cystic dysplasia of the kidneys, polydactyly, and @PHENOTYPICFEATURE$) are consistent with a diagnosis of the Meckel syndrome.	false
+82a58a8c6d7e615f286acd82353f6456e406e3bf	If a fetus is suspected to have @PHENOTYPICFEATURE$, microcephaly, holoprosencephaly, agenesis of the corpus callosum, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	has_symptom
+0e285bd15c75c3d6ae12db1f336e6f0d4271529c	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or @DISEASE$, cardiac evaluation should be pursued.	false
+9361aa97522e2b3a66c764d4aaa0760c00d0f618	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, @DISEASE$, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+87a00fcf593b5e5e0e47c619ec28cd9ee9c53578	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, Meckel-Gruber syndrome, @DISEASE$, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+1fcd462362ed8a7c8dc69601e4dceba53250caed	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or @DISEASE$, cardiac evaluation should be pursued.	false
+08f9ac75d5278fe649b6220ff06e67bae0631538	If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+4c1d8fd103ab9aee4dbf3ed567b7249c081d818c	If a fetus is suspected to have @DISEASE$, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+789f9179802c1f51f42e1d9f2a35fe68445526c5	If a fetus is suspected to have hydrocephalus, @PHENOTYPICFEATURE$, holoprosencephaly, agenesis of the corpus callosum, @DISEASE$, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+bcfe3ec5903d146b91468af40b8c1c7d5699c85c	If a fetus is suspected to have @DISEASE$, microcephaly, holoprosencephaly, @PHENOTYPICFEATURE$, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued.	false
+64c3037039eae46bfa3c3ee8e9f5e92c95e20008	The main manifestations were @PHENOTYPICFEATURE$ (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the @DISEASE$) normal kidneys.	has_symptom
+0f5c4dfe7fe97ecdefa6e858d51fb7f378646795	The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, @PHENOTYPICFEATURE$, abnormalities of the respiratory organs, and (different from the @DISEASE$) normal kidneys.	false
+ce325e94bec913ebff4625605121bb3e4d2c674d	The main manifestations were @DISEASE$ (often with an unusual structure of the brain and the occipital bone), very small mandible, @PHENOTYPICFEATURE$, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys.	false
+cb80c7e333919355be811181225dd979616950cb	The main manifestations were @DISEASE$ (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, @PHENOTYPICFEATURE$, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys.	false
+074043681361dfd01fac94cab395d0b240df0ac0	The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, @PHENOTYPICFEATURE$, congenital heart defect, abnormalities of the respiratory organs, and (different from the @DISEASE$) normal kidneys.	false
+f9b078d4c8d07ddc16f68c2c86c1c067e63b7715	@DISEASE$ commonly manifests as regression, failure to thrive, spasticity, @PHENOTYPICFEATURE$ with or without microcephaly.	has_symptom
+c47effbdcefd6af1ac0f1d6a16041b60f4515aef	Hyperargininemia commonly manifests as regression, failure to thrive, @PHENOTYPICFEATURE$, @DISEASE$ with or without microcephaly.	false
+c83f37ce1a19fde63710e55056c80c51dea07912	Hyperargininemia commonly manifests as regression, failure to thrive, spasticity, @DISEASE$ with or without @PHENOTYPICFEATURE$.	false
+6ad41a4a23bc60fdfe47eb0a0c160ddfc67f530b	@DISEASE$ commonly manifests as regression, failure to thrive, spasticity, seizures with or without @PHENOTYPICFEATURE$.	false
+dffed8a9b97cb5363d6fb76b70dab0f93a48e578	@DISEASE$ commonly manifests as regression, @PHENOTYPICFEATURE$, spasticity, seizures with or without microcephaly.	false
+70ae7fcc46ccbcab7aaf5d2f6a3590fd04f73b23	@DISEASE$ commonly manifests as regression, failure to thrive, @PHENOTYPICFEATURE$, seizures with or without microcephaly.	false
+f15f43604831d9b5d9cd8c005ac5ce9a42f63958	Hyperargininemia commonly manifests as regression, @PHENOTYPICFEATURE$, spasticity, @DISEASE$ with or without microcephaly.	false
+197c43a95e3a197a29929ee91c433807f6b84cb1	This effect might underlie the in vivo epileptogenicity of some of the guanidino compounds and might contribute to the pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a26d9fb3c7d07a12ec32f1c665216994c28b8c45	Arginase 1 deficiency is a urea cycle disorder associated with @DISEASE$, spastic diplegia, loss of ambulation, intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+263cf39dd5ea4f8ec18e0b2f61b32b55e73a2a2f	Arginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, spastic diplegia, loss of ambulation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+962e8f430946e221bc0c33794fc1011693b05a97	Arginase 1 deficiency is a urea cycle disorder associated with @DISEASE$, spastic diplegia, loss of ambulation, @PHENOTYPICFEATURE$, and seizures.	false
+0b0a9e75a7c06c57d1f6292a7250165f85e62921	Arginase 1 deficiency is a urea cycle disorder associated with hyperargininemia, @DISEASE$, loss of ambulation, @PHENOTYPICFEATURE$, and seizures.	false
+faf3016c387ac9d5c033542c27979d85ee4ee476	Arginase 1 deficiency is a @DISEASE$ associated with hyperargininemia, spastic diplegia, loss of ambulation, @PHENOTYPICFEATURE$, and seizures.	false
+a6c8b5da41285a40fbf38cd2cb62fead65083d89	Human @DISEASE$ is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, @PHENOTYPICFEATURE$, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	has_symptom
+3f9c48b1b07887e8653f9f90dd6bf34fbb467f43	Human arginase deficiency is characterized by @DISEASE$ and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, @PHENOTYPICFEATURE$, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	has_symptom
+6d9e2109f95d88539be718ef56748961950cc3df	Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with @PHENOTYPICFEATURE$, loss of ambulation, @DISEASE$, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	false
+19b76401d4fd45c4225ac63ec40dc15fc9c17feb	Human @DISEASE$ is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and @PHENOTYPICFEATURE$; uncommonly, patients suffer early death from this disorder.	false
+7af676fef146cf7d9e0b56cf7c77ecc3cd5cdb7e	Human arginase deficiency is characterized by @DISEASE$ and infrequent episodes of hyperammonemia, which lead to neurological impairment with @PHENOTYPICFEATURE$, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	false
+49d4263920243ca61e2d097fdab1db1361c5365e	Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, @DISEASE$, and severe mental and @PHENOTYPICFEATURE$; uncommonly, patients suffer early death from this disorder.	false
+63ccbe5312c6fe5eabbdca2ca62e27eb6ecd138e	Human @DISEASE$ is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with @PHENOTYPICFEATURE$, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	false
+b9cec933c1da0f9b39705409f7bceb950b3d29c3	Human arginase deficiency is characterized by @DISEASE$ and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and @PHENOTYPICFEATURE$; uncommonly, patients suffer early death from this disorder.	false
+b28c043875abbded452a7f0bf01d80e272df2323	When @DISEASE$ was found at the ages of 4 to 12 years, four of patients had mental retardation, and three had @PHENOTYPICFEATURE$.	has_symptom
+a2ad68690135e41bd8aec96c4a7866e9c56fd1b9	When @DISEASE$ was found at the ages of 4 to 12 years, four of patients had @PHENOTYPICFEATURE$, and three had seizures.	false
+a77cac3af49698317cbb0de28ec8ece3db936dd3	When argininemia was found at the ages of 4 to 12 years, four of patients had @PHENOTYPICFEATURE$, and three had @DISEASE$.	false
+00e145c60f635282d0ce2765dcd19a18ee3ba384	@DISEASE$ results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in developmental disabilities, @PHENOTYPICFEATURE$, spastic diplegia, and sometimes death.	has_symptom
+26114c77e4956eaaded8f8caf7ff99b217e812e2	Of the UCDs, @DISEASE$ (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or @PHENOTYPICFEATURE$.	has_symptom
+09debbb50ccccefe8ef79697783e3cd402a6c483	Clinical features of @DISEASE$ include elevated plasma arginine levels, spastic diplegia, intellectual disability, @PHENOTYPICFEATURE$ and growth deficiency.	has_symptom
+f1669140f9ccbd397f92e012b58811d0b7841bec	Clinical features of @DISEASE$ include elevated plasma arginine levels, spastic diplegia, @PHENOTYPICFEATURE$, seizures and growth deficiency.	false
+2d4e173cf6d1a49fc8ce9b8aae12b85ecd6a14a4	Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, @PHENOTYPICFEATURE$, @DISEASE$ and growth deficiency.	false
+7f5943ddf3ba43534222f08ecdd84d7d89497ebb	@DISEASE$ is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and orotic aciduria, associated with progressive spastic tetraplegia, @PHENOTYPICFEATURE$, psychomotor retardation, and growth failure.	has_symptom
+755e974a1bc6dd64169416c8b2957ec25a8c17f2	@PHENOTYPICFEATURE$ in @DISEASE$ may be more common than reported in previous studies.	has_symptom
+278454afc768a60f3195a34015f8302f45957d5d	Management of @DISEASE$ (GPA)-associated peripheral ulcerative @PHENOTYPICFEATURE$ (PUK) is challenging and lacks definite guidelines.	has_symptom
+e9643ca04f7987905d87433b680df047faec3709	A 15-year-old female with @DISEASE$ presented with chylous ascites, vaginal drainage, and unilateral lower extremity @PHENOTYPICFEATURE$.	has_symptom
+b609217683d4744cb5e38a3e724f929e1cb401d1	Increased growth is also seen in neurofibromatosis, hemangiomatosis, arteriovenous malformations, congenital @PHENOTYPICFEATURE$, and syndromes such as @DISEASE$ and Proteus syndrome.	has_symptom
+8697e4f8362251908913264645a13de8c1ce6aa7	A female patient with @DISEASE$, including hypertrophic bone and soft tissue in the forelimbs, bilateral lower limbs @PHENOTYPICFEATURE$, port-wine stains, and superficial veins of Servelle, was presented.	has_symptom
+395d63537f76ed1eb7cadbb686350ee0846c2f00	@DISEASE$ (MRH) is a rare form of non-Langerhans histiocytosis that presents with erosive arthritis and @PHENOTYPICFEATURE$.	has_symptom
+fcc65bf2e113a98125abef79a3f0ab32d42773af	@DISEASE$ (MRH) is a rare multisystem disease characterized by @PHENOTYPICFEATURE$ and a destructive polyarthritis.	has_symptom
+0e7dfcb3640a9c82142904a9697ff4831e12274a	With the recent report of mutations in the calcium channel gene CACNA1A in two families with @DISEASE$, we investigated a patient with nonfamilial episodic @PHENOTYPICFEATURE$ and ataxia responsive to acetazolamide for similar mutations.	has_symptom
+2b683c82e263af85925a07c183f0a574322871ad	With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we investigated a patient with nonfamilial episodic @DISEASE$ and @PHENOTYPICFEATURE$ responsive to acetazolamide for similar mutations.	false
+71b38a2ff2b7f93acff284fd1fb5eab492730457	With the recent report of mutations in the calcium channel gene CACNA1A in two families with @DISEASE$, we investigated a patient with nonfamilial episodic vertigo and @PHENOTYPICFEATURE$ responsive to acetazolamide for similar mutations.	false
+c45ce75ff3de5223aa80d8712ac09fb6efab5193	@DISEASE$ (EA2) is an autosomal dominant condition characterized by paroxysmal attacks of ataxia, @PHENOTYPICFEATURE$, and nausea, typically lasting minutes to days in duration.	has_symptom
+3cc8eefe74e46da3346e76a7eed94268dd1728a5	Episodic ataxia type 2 (EA2) is an autosomal dominant condition characterized by paroxysmal attacks of @PHENOTYPICFEATURE$, @DISEASE$, and nausea, typically lasting minutes to days in duration.	false
+e1c606442ecd9c8556da79b7ac87e55d0e242a9a	@DISEASE$ (EA2) is an autosomal dominant condition characterized by paroxysmal attacks of @PHENOTYPICFEATURE$, vertigo, and nausea, typically lasting minutes to days in duration.	false
+53a09364cd8396eb6615ce4ff4f63c1f8c98a042	@DISEASE$ (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, @PHENOTYPICFEATURE$, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A.	has_symptom
+98c95f2cf30017aa14d2ce65962a59570adf9390	Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of @PHENOTYPICFEATURE$, dysarthria, @DISEASE$, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A.	false
+2cf706e2cdeab46afcdde9980aa543d57d9ccedb	@DISEASE$ (EA2) is a dominantly inherited disorder, characterized by spells of @PHENOTYPICFEATURE$, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A.	false
+ecbc90798b0d00c05c3fbd776869f6e6a54a8035	@DISEASE$ (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, @PHENOTYPICFEATURE$, nausea, and other neurologic symptoms.	has_symptom
+c5d8275480a84a1ff6e33c4d6aef04dedac42ac5	Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of @PHENOTYPICFEATURE$, @DISEASE$, nausea, and other neurologic symptoms.	false
+92e7d3f84503c3bc61328481e5c88a0bd04a909c	@DISEASE$ (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of @PHENOTYPICFEATURE$, vertigo, nausea, and other neurologic symptoms.	false
+5eb3165cd16c3a54517b00ecf5739ffb7853edab	At least two groups of disorders have been separated clinically: (1) episodic ataxia type 1 (EA-1), which manifests without vertigo and is associated with 'interictal' myokymia, and (2) @DISEASE$ (EA-2), which often manifests with @PHENOTYPICFEATURE$ and is associated with 'interictal' nystagmus.	has_symptom
+3a098327a2ecbb351a37d927bdf1d29ef043eb7a	@DISEASE$ (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, @PHENOTYPICFEATURE$, and episodes of ataxia lasting minutes to hours.	has_symptom
+2323244d3f9201d2359d26d6f299177f2966d776	Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, @DISEASE$, and episodes of @PHENOTYPICFEATURE$ lasting minutes to hours.	false
+dda4c32d26c3c5587ce3684bc75e958d7df85bae	Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited @DISEASE$ characterized by recurrent disabling imbalance, vertigo, and episodes of @PHENOTYPICFEATURE$ lasting minutes to hours.	false
+c5601f15e32e6c8546f73ad27572c2b938da4173	@DISEASE$ (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of @PHENOTYPICFEATURE$ lasting minutes to hours.	false
+8930548669b922b44c6b5c7305e0a7b84295810f	@DISEASE$ is a prototypical episodic @PHENOTYPICFEATURE$ and ataxia syndrome that is caused by mutations in the calcium channel gene CACNA1A.	has_symptom
+c2c9f49289a1bc471f000bb2c12ff0a870478d7d	@DISEASE$ (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, @PHENOTYPICFEATURE$, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness.	has_symptom
+e2a3fa1c837bf8bda36dec90dff12b6c3fd74053	Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of @PHENOTYPICFEATURE$, @DISEASE$, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness.	false
+8a2be9428a54afb9c5c4a27d4ffd4c0a27d0b260	@DISEASE$ (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of @PHENOTYPICFEATURE$, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness.	false
+3f9a84a7eb3c4341900be740da28d7170c69c46b	Episodic ataxia type 2 (EA-2) is an autosomal dominant @DISEASE$, characterized by episodes of @PHENOTYPICFEATURE$, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness.	false
+bf0a31deef2f017cfa1d8278379a1fcfd1ab35d7	Review of literature in PubMed using the following terms: vestibular migraine, migraine-associated vertigo, vertiginous migraine, benign recurrent vertigo, migraine-associated dizziness, migraine, migraine treatment, Meniere disease (MD), vertebrobasilar ischemia (VBI), posterior circulation stroke, benign paroxysmal positional @PHENOTYPICFEATURE$, and @DISEASE$ (EA2).	has_symptom
+db816a699c77102532defb08e9f66c98c2817a29	Review of literature in PubMed using the following terms: vestibular migraine, migraine-associated @PHENOTYPICFEATURE$, vertiginous migraine, benign recurrent vertigo, migraine-associated dizziness, migraine, migraine treatment, Meniere disease (MD), vertebrobasilar ischemia (VBI), posterior circulation stroke, benign paroxysmal positional vertigo, and @DISEASE$ (EA2).	has_symptom
+f8547147d0376df2baa9bd128021783190754471	@DISEASE$ (EA2) is characterized by episodes lasting longer than in EA1, that manifest by ataxia, dysarthria, @PHENOTYPICFEATURE$, and also, in most of the cases, an interictal nystagmus.	has_symptom
+5a60e681e472b630424cfb6236fd039b3845e2ee	Episodic ataxia type 2 (EA2) is characterized by episodes lasting longer than in EA1, that manifest by @PHENOTYPICFEATURE$, dysarthria, @DISEASE$, and also, in most of the cases, an interictal nystagmus.	false
+bf9e0ecf46407d59cbedb10b7436e88ee0ad8f9d	@DISEASE$ (EA2) is characterized by episodes lasting longer than in EA1, that manifest by @PHENOTYPICFEATURE$, dysarthria, vertigo, and also, in most of the cases, an interictal nystagmus.	false
+7cd7a22873cbc30227fc36e460224bd306befd22	@PHENOTYPICFEATURE$, obesity, mandibular prognathism with eye and skin anomalies (@DISEASE$): a newly recognized autosomal recessive syndrome.	has_symptom
+4a54300f3cb51aa5a9823f2ed7855e7000291494	Mental retardation, @PHENOTYPICFEATURE$, mandibular prognathism with eye and skin anomalies (@DISEASE$): a newly recognized autosomal recessive syndrome.	false
+0a6c23ace5f48c300a90101a81de9883f3e9ccad	@DISEASE$, @PHENOTYPICFEATURE$, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.	false
+6f4492fbe0fab1621a35a1191f4f1827eae1fc61	Mental retardation, @PHENOTYPICFEATURE$, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive @DISEASE$.	false
+0dab16dd686ce5443479d636876455946a1cc054	@PHENOTYPICFEATURE$ typically accompanies hypocorticism (@DISEASE$) or lack of glucagon.	has_symptom
+c68644c74149ad0573ea4b49368a11c909bdd4b8	The group of metabolic seizures includes @PHENOTYPICFEATURE$ seizures, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	has_symptom
+6be7e0c7e3c33c21efe19539402b15252f666a80	The group of metabolic seizures includes @DISEASE$ seizures, seizures in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic @PHENOTYPICFEATURE$.	false
+ac5e931fb1b99a6a14d436951ca93c4d36a63893	The group of metabolic seizures includes hypoglycaemic seizures, seizures in ph?ochromocytoma, in Addison's disease and @DISEASE$ and the tetanic @PHENOTYPICFEATURE$.	false
+aacd68d6cdca94a1cdaa90cf49c81b92db9f5d2e	The group of metabolic @PHENOTYPICFEATURE$ includes @DISEASE$ seizures, seizures in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic seizures.	false
+c30dc332648d952060ee002e6fc679c527bfbc47	The group of metabolic @PHENOTYPICFEATURE$ includes hypoglycaemic seizures, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	false
+c5fccd34abd23f3a45cc6db4900456a19ee83e48	The group of metabolic @PHENOTYPICFEATURE$ includes hypoglycaemic seizures, seizures in ph?ochromocytoma, in Addison's disease and @DISEASE$ and the tetanic seizures.	false
+62a103feb010f0ecb3beb42bee694b5fc43ff5e3	The group of metabolic seizures includes hypoglycaemic @PHENOTYPICFEATURE$, seizures in ph?ochromocytoma, in Addison's disease and @DISEASE$ and the tetanic seizures.	false
+9deecb75c56a36c72d0d3c206ed0f7677bbe8a98	The group of metabolic seizures includes hypoglycaemic seizures, @PHENOTYPICFEATURE$ in ph?ochromocytoma, in Addison's disease and @DISEASE$ and the tetanic seizures.	false
+aa5fe9b3c18ebda175f14dcc8a0a39b88a8d945f	The group of metabolic seizures includes hypoglycaemic seizures, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic @PHENOTYPICFEATURE$.	false
+c5dbbc251415b12f916538460f5d1d989e9b4330	The group of metabolic seizures includes @DISEASE$ seizures, @PHENOTYPICFEATURE$ in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic seizures.	false
+49e25358a63a76134f238127e61fcd041171a181	The group of metabolic seizures includes hypoglycaemic seizures, @PHENOTYPICFEATURE$ in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	false
+bf0eb396fefbf6472143ccfaf15e228ece2fe47b	The group of metabolic seizures includes hypoglycaemic @PHENOTYPICFEATURE$, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	false
+5d778876863eab9307e27a7a3395700278e4ac28	The group of metabolic seizures includes @DISEASE$ @PHENOTYPICFEATURE$, seizures in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic seizures.	false
+b77c502775121b5a0ac7c527ce44549e1d2ae973	Our case suggests that the presence of @DISEASE$ should be taken into consideration in patients with type-1 diabetes mellitus and frequent episodes of @PHENOTYPICFEATURE$.	has_symptom
+7d2008341e5188b337de49dacbb2f7acfcef70cb	In this study population, corticosteroid and/or immunosuppressant treatments were efficacious therapeutic interventions for WCD.Key Points?@PHENOTYPICFEATURE$ and fever were the most common clinical characteristics in @DISEASE$.?Misdiagnosis	has_symptom
+91d2689a3fc1fa08b6ab362c4b27a2a203190e80	In this study population, corticosteroid and/or immunosuppressant treatments were efficacious therapeutic interventions for WCD.Key Points?@DISEASE$ and @PHENOTYPICFEATURE$ were the most common clinical characteristics in Weber-Christian panniculitis.?Misdiagnosis	false
+a20bbf49eb9c7523afb1d14d6acb338df985af52	In this study population, corticosteroid and/or immunosuppressant treatments were efficacious therapeutic interventions for WCD.Key Points?Subcutaneous nodules and @PHENOTYPICFEATURE$ were the most common clinical characteristics in @DISEASE$.?Misdiagnosis	false
+7089b218c7aa72a0ce86d7c70dda2abe29025f32	Herein we present a patient with recurrent cutaneous and @PHENOTYPICFEATURE$ who was initially treated with aggressive immunosupression for a presumptive diagnosis of @DISEASE$.	has_symptom
+0e5a916c3f07904995aa084b273292a37550bba1	X-linked syndrome of mental retardation, short stature, and @PHENOTYPICFEATURE$: a new syndrome or a further example of the @DISEASE$?	has_symptom
+2a07516bf555c5ef62e6bb3ac51a2acc6e9a5fd1	X-linked syndrome of @PHENOTYPICFEATURE$, short stature, and @DISEASE$: a new syndrome or a further example of the FG syndrome?	false
+df8b7466dd3922950657d4126cbbacc15e13db71	X-linked syndrome of mental retardation, @PHENOTYPICFEATURE$, and @DISEASE$: a new syndrome or a further example of the FG syndrome?	false
+4478ace630efac50a90912b67ff465280886923d	X-linked syndrome of mental retardation, @PHENOTYPICFEATURE$, and hypertelorism: a new syndrome or a further example of the @DISEASE$?	false
+b74105b4ce318c47b0c6a9ad818d5c9eeb6c4871	X-linked syndrome of @PHENOTYPICFEATURE$, short stature, and hypertelorism: a new syndrome or a further example of the @DISEASE$?	false
+b52e95bcb8a74248db879b4aec3f2f2a766ea50b	Based on over 50 reported cases, @DISEASE$ is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, @PHENOTYPICFEATURE$, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads.	has_symptom
+6499e1988a17e5000ff6ba6e4adbd66ba97db9f0	Based on over 50 reported cases, FG syndrome is associated with @PHENOTYPICFEATURE$, minor @DISEASE$ anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads.	false
+b54a915d08ece20ef2e5523e234ddfe915276f78	Based on over 50 reported cases, @DISEASE$ is associated with @PHENOTYPICFEATURE$, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads.	false
+08aa28c5970ec7b870a0d2cb99042eecfbbd6530	Based on over 50 reported cases, FG syndrome is associated with @PHENOTYPICFEATURE$, minor facial anomalies (high, broad forehead with frontal cowlick, @DISEASE$, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads.	false
+c8b7a32f46cabd83da441a69ba637b5842e03888	We report on a young pregnant woman developing distal leg edema and @PHENOTYPICFEATURE$, who was lately diagnosed with @DISEASE$.	has_symptom
+1686fe77a89d688aeb97e7698989515259b4b225	A daughter of second cousins is described as having @DISEASE$, @PHENOTYPICFEATURE$, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	has_symptom
+e8b854a2067e89f524fff5bf83745479dcd7571a	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, @PHENOTYPICFEATURE$, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+4c8fb7a554c49c975f00d0f853881d1f81c18fdc	A daughter of second cousins is described as having lipoatrophic diabetes, @DISEASE$, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, @PHENOTYPICFEATURE$ of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+46a627f79aa3fb74b942595bd29096d9a03d62d7	A daughter of second cousins is described as having lipoatrophic diabetes, @DISEASE$, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, @PHENOTYPICFEATURE$, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+a9fa964b7e5c4b37c707bcf3b721fb9509ed8dfd	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and @PHENOTYPICFEATURE$ areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+b381a822372708b73f75cf3f335e8ebe0ea2210d	A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized @DISEASE$, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, @PHENOTYPICFEATURE$ of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+aef60b9765612b09761e28007ee9f34e60b85df0	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, @PHENOTYPICFEATURE$ of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+aa0e4d76d105af751eb6fc3ad81d46119ad96eec	A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized @DISEASE$, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and @PHENOTYPICFEATURE$ areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+751d02048a86dd3526df6ab5d000145701185a25	A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized @DISEASE$, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, @PHENOTYPICFEATURE$, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+d4db19e6e75d09a3c66db654898f701423b0999c	A daughter of second cousins is described as having lipoatrophic diabetes, @DISEASE$, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and @PHENOTYPICFEATURE$ areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+0cb577ca077f86af46d8bde8539f512d4db35b18	To assist in determining the functional correlates of these structural abnormalities, positron emission tomography was used to measure regional cerebral blood flows and dopaminergic function in a patient with @DISEASE$ that manifested as progressive generalized dystonia, @PHENOTYPICFEATURE$, and bilateral pallidal "eye of the tiger" sign.	has_symptom
+dbc11e656df3d9de81205f38bcbc713e1dfd4323	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside @PHENOTYPICFEATURE$ or retinal degeneration and pyramidal signs.	has_symptom
+49e1a143db5ae22f504234e5b914393e189c426a	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or @PHENOTYPICFEATURE$ and pyramidal signs.	false
+5a194c534c44af9f20446a60fd73735c8aabe81b	Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @PHENOTYPICFEATURE$ alongside @DISEASE$ or retinal degeneration and pyramidal signs.	false
+55f16edd71ff550e71cfed71fe6ccd2244cc34dd	Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside @DISEASE$ or @PHENOTYPICFEATURE$ and pyramidal signs.	false
+de56b1ccf84f7638100e462ece98a9ff89d60e8b	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @PHENOTYPICFEATURE$ alongside optic nerve atrophy or retinal degeneration and pyramidal signs.	false
+bd7cf8166af527608813ae221ebd821cfb4a8e6f	This new observation suggests that the occurrence of @PHENOTYPICFEATURE$ in a patient with @DISEASE$ should be regarded as noncoincidental and stresses the importance of an accurate neurological work-up in all adolescents with any unusual form of progressive optic atrophy.	has_symptom
+f4817c35c542c646ba36679eb01c2d6205d82740	This new observation suggests that the occurrence of optic atrophy in a patient with @DISEASE$ should be regarded as noncoincidental and stresses the importance of an accurate neurological work-up in all adolescents with any unusual form of progressive @PHENOTYPICFEATURE$.	has_symptom
+68404e5da5d9e520070e6c85f53ab1480e91ad4f	@PHENOTYPICFEATURE$ is a rare finding in patients with @DISEASE$.	has_symptom
+a0903f2ff8a107c242951738f99b9c100f19f1e0	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @PHENOTYPICFEATURE$, craniosynostosis, short stature, and craniofacial anomalies.	has_symptom
+c5f7f5c219841745737433de5bf4167a59f3245a	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	false
+84721c068734309d8624e215ad5b5306611eeaf1	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, @DISEASE$, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+000239335233f34e1a8b89e3d6b13ea2db48c258	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a @DISEASE$ syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+54844ac86e619b45aec86ef39f25aed17bc69b77	@DISEASE$, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+7beefc50b882d4c15c3bee644f2ef423878a2dc6	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a @DISEASE$ syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	false
+c33c790a0f4f05c3437932566e203e0380373110	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, @DISEASE$, short stature, and craniofacial anomalies.	false
+2af4c7c908c5022047b54b60d9229f2ef05a8c63	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, @DISEASE$, craniosynostosis, short stature, and craniofacial anomalies.	false
+a511984eaf9e78fc9b0cfa91382218050c0cb0f0	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, @DISEASE$, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+724e5b98a3af77ced2153bb0fd0e5ed4b6589968	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare @DISEASE$ comprising @PHENOTYPICFEATURE$, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature, and craniofacial anomalies.	false
+cbe415d56499f62e79c1e054ccd8ce98e195f7ba	Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare @DISEASE$ comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, @PHENOTYPICFEATURE$, and craniofacial anomalies.	false
+9d29fb2f4fc4eff4fe60dcbb2b142e5e2f999fc2	Our data suggest that hemoglobin sickle cell disease should not be considered as a mild form of @DISEASE$ but as a separate disease with a special emphasis on viscosity-associated otological and ophthalmological disorders, and with a low prevalence of vasculopathy (strokes, pulmonary @PHENOTYPICFEATURE$, ulcers and nephropathy).	has_symptom
+81d9e0160672beb739d4a2de543d9840ffc66933	Non-transmissible diseases are also on the rise including diabetes, systemic arterial @PHENOTYPICFEATURE$, cancer and neglected diseases such as @DISEASE$.	has_symptom
+7f4ac1f612db0c2e07a73790b8bad61554ca3c17	@DISEASE$ (SCD) is considered as a vascular disease due to its chronic vascular manifestations such as leg ulcers, priapism, acute chest syndrome (ACS), stroke, retinopathy, renal insufficiency, pulmonary @PHENOTYPICFEATURE$, avascular necrosis of the femoral head (AVNF) and splenic infarction.	has_symptom
+f0e191ba84bb880b8ff30d71e7bb4994f44a9c63	@DISEASE$, a systemic infectious disease caused by Salmonella typhi, is classically characterized by fever, paradoxical bradycardia, @PHENOTYPICFEATURE$, and a rose colored rash.	has_symptom
+63f54f45aead437a9a108531bc338c66a72843e0	Typhoid fever, a systemic infectious disease caused by Salmonella typhi, is classically characterized by @PHENOTYPICFEATURE$, paradoxical bradycardia, @DISEASE$, and a rose colored rash.	false
+249910116caafb261fba61c4d8cc70c40e5a141d	Typhoid fever, a systemic @DISEASE$ caused by Salmonella typhi, is classically characterized by @PHENOTYPICFEATURE$, paradoxical bradycardia, abdominal pain, and a rose colored rash.	false
+ded02fd3d0f135e6455d64e09e25d132ee5b13bb	@DISEASE$, a systemic infectious disease caused by Salmonella typhi, is classically characterized by @PHENOTYPICFEATURE$, paradoxical bradycardia, abdominal pain, and a rose colored rash.	false
+3c7caf78555c91848ea011792d52c9fd0a407242	@DISEASE$ is commonly characterized by fever and @PHENOTYPICFEATURE$.	has_symptom
+e503b791845987fc094412eb4ae7245a19289a01	@DISEASE$ is commonly characterized by @PHENOTYPICFEATURE$ and abdominal pain.	false
+3a38e3ff35e5b5a9a19a4f8e231e2e836cf98d0b	Typhoid fever is commonly characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d07ef1abc67a423d5658c1dc71a3da51b09aee61	The bacterium Salmonella enterica serovar Typhi causes @DISEASE$, which is typically associated with fever and @PHENOTYPICFEATURE$.	has_symptom
+3c79f23917af0ef678e3c10d3e9a8872c9c8e4b1	The bacterium Salmonella enterica serovar Typhi causes @DISEASE$, which is typically associated with @PHENOTYPICFEATURE$ and abdominal pain.	false
+6ff8ea4416d1642255899ab5b70633c76c794382	The bacterium Salmonella enterica serovar Typhi causes typhoid fever, which is typically associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+051d165d78fb400566f0be541fbc9d6ff97584a3	Salmonella can cause a number of different disease syndromes including gastroenteritis, bacteremia, and @DISEASE$, with the most common being gastroenteritis, which is often characterized by @PHENOTYPICFEATURE$, nausea, vomiting, diarrhea, and headache.	has_symptom
+16b78977422d37e7a9ee4118103c7f6f219342a1	Salmonella can cause a number of different disease syndromes including gastroenteritis, bacteremia, and typhoid fever, with the most common being gastroenteritis, which is often characterized by @DISEASE$, nausea, @PHENOTYPICFEATURE$, diarrhea, and headache.	false
+b47cc70edccdc40d6e26fd12ddbee3aa162c6ebc	Salmonella can cause a number of different disease syndromes including gastroenteritis, bacteremia, and @DISEASE$, with the most common being gastroenteritis, which is often characterized by abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhea, and headache.	false
+cb030610c860cc106e87b3c7435e1e61fc2623c4	Salmonella can cause a number of different disease syndromes including gastroenteritis, bacteremia, and typhoid fever, with the most common being gastroenteritis, which is often characterized by abdominal pain, nausea, @PHENOTYPICFEATURE$, @DISEASE$, and headache.	false
+7632f317da74fd9aee1db96c262101297588a13a	Salmonella can cause a number of different disease syndromes including @DISEASE$, bacteremia, and typhoid fever, with the most common being gastroenteritis, which is often characterized by abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhea, and headache.	false
+e0c2e47f5b8f65822b956bc3c839a4fa7dd34ebb	@DISEASE$ should be suspected in young travellers returning to New Zealand with fever, diarrhoea, @PHENOTYPICFEATURE$ and headache.	has_symptom
+18a9cdb7215946e9b552192216ea9b60a950f1ba	Typhoid fever should be suspected in young travellers returning to New Zealand with @PHENOTYPICFEATURE$, @DISEASE$, abdominal pain and headache.	false
+6af808341ddbf4b838b5533b8d1e0b3f69cc86c6	@DISEASE$ should be suspected in young travellers returning to New Zealand with @PHENOTYPICFEATURE$, diarrhoea, abdominal pain and headache.	false
+2cd55290b5bd722a28a994070713b2274566127b	Typhoid fever should be suspected in young travellers returning to New Zealand with @PHENOTYPICFEATURE$, diarrhoea, @DISEASE$ and headache.	false
+0adb18bf4258f4925696ab62f0121afe12dff724	Kidney biopsy findings in heterozygous @DISEASE$ females with early @PHENOTYPICFEATURE$.	has_symptom
+7e7af878ec2a2f83fcf5a1ef0a413a1edf257a40	These included bladder B-lymphoma, systemic histoplasmosis, urate nephropathy, @DISEASE$, myeloma cast @PHENOTYPICFEATURE$, giant cell arteritis, and lupus nephritis.	has_symptom
+6a2e4fa5881f57e7ad8f9b308c7073666f2d7620	BACKGROUND @DISEASE$ is a neuromuscular disease which causes @PHENOTYPICFEATURE$, skeletal deformities, and disabilities.	has_symptom
+5716d3f3ef4f6689cb4b1a719eaad321881cfe26	[Two cases of post-@DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+c882150d1d0559c656c6c472d01709242dfd831d	Oligoclonal bands in the cerebrospinal fluid of post-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+7082643b2592b6da1fd4321b07dbed19f74049ba	Some of these patients develop post-@DISEASE$ @PHENOTYPICFEATURE$ (PPMA) which is characterized by a slowly progressive muscle weakness.	has_symptom
+98fc5501f7f72ec3e69757868c8ec344ef061772	Some of these patients develop slowly progressive muscle weakness known as post-@DISEASE$ @PHENOTYPICFEATURE$ (PPMA).	has_symptom
+fa9e4709ca6d2571945f6f20057c5149dd3880a7	Inclusion body myositis in post-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+2a9880a642f337c82faafa55132f78ff3c8f036c	[A case of post-@DISEASE$ @PHENOTYPICFEATURE$ with cranial nerve signs and widespread muscular atrophy of the extremities].	has_symptom
+f10e668fb6d9c62d662b8eec249e384ee7d508c4	No cases of motor neurone disease or post-@DISEASE$ @PHENOTYPICFEATURE$ (PPMA) were identified.	has_symptom
+91211943cd43a96706bb9ce2c102a5557cc1d477	Mitochondrial abnormalities of late motor neuron degeneration following @DISEASE$ and other @PHENOTYPICFEATURE$.	has_symptom
+3261b8c4055bd81e23b1c1c5f48117e6a48dedc2	Pathology of spinal cord in post-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+cf6696b4f87a22d6a61d8da5d8a026ebb8658077	Orthostatic hypotension, fever, and hypoglycemia characterize acute @DISEASE$, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, diarrhea, @PHENOTYPICFEATURE$, joint, and back pain.	has_symptom
+afc86b0eb7e79eca6f0e92e4d11629bbadde2fd8	Orthostatic hypotension, @PHENOTYPICFEATURE$, and hypoglycemia characterize acute @DISEASE$, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, diarrhea, weight loss, joint, and back pain.	false
+c9c75154c66ca117c7aceb9c2b875d8018db0f30	Orthostatic hypotension, @PHENOTYPICFEATURE$, and hypoglycemia characterize acute adrenal crisis, whereas @DISEASE$ presents with a more insidious history of malaise, anorexia, diarrhea, weight loss, joint, and back pain.	false
+76623bf5f2a2ce48514e23e5dabf682539891dd4	Orthostatic hypotension, @PHENOTYPICFEATURE$, and hypoglycemia characterize acute adrenal crisis, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, @DISEASE$, weight loss, joint, and back pain.	false
+a6f59ba60ec8fe1d0dcb536bc34f7ed39794f30d	Orthostatic hypotension, @PHENOTYPICFEATURE$, and @DISEASE$ characterize acute adrenal crisis, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, diarrhea, weight loss, joint, and back pain.	false
+9dcedabb4b37179ca6c2773cf1655830b593db3b	Orthostatic hypotension, @PHENOTYPICFEATURE$, and hypoglycemia characterize acute adrenal crisis, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, diarrhea, @DISEASE$, joint, and back pain.	false
+c083bc12de7db30a84c4c19fb161c9734e78839a	@DISEASE$, @PHENOTYPICFEATURE$, and hypoglycemia characterize acute adrenal crisis, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, diarrhea, weight loss, joint, and back pain.	false
+600168820d520a85c694275989e1c8bf01be4b7f	Hepatic involvement after @PHENOTYPICFEATURE$, its pathophysiology, clinical presentation (congestive and ischemic hepatopathy), laboratory and echocardiographic prognostic markers are discussed; likewise, hepatic diseases influencing cardiac function (@DISEASE$).	has_symptom
+d4c61e3c423e394bb73f4d8b46ea0758df085d90	@DISEASE$ is described as latent @PHENOTYPICFEATURE$.	has_symptom
+c4f4be16b1a682488bcebcc14bd4a0b84daa8ce1	Generally, @DISEASE$ with overt severe @PHENOTYPICFEATURE$ is rare.	has_symptom
+0cd2ebbe26d4ad802430a0dd70d36bae33e6c2dc	Herein, we present the case of previously unrecognized @DISEASE$ that became overt with the development of severe acute @PHENOTYPICFEATURE$.	has_symptom
+a36eca755e19e27b46b850544c44fbd6c0ff003b	The avoidance of @PHENOTYPICFEATURE$ during this period has important prognostic implications, as there is evidence to suggest a long-term resolution of the abnormalities in @DISEASE$.	has_symptom
+c4f4be16b1a682488bcebcc14bd4a0b84daa8ce1	Generally, @DISEASE$ with overt severe @PHENOTYPICFEATURE$ is rare.	has_symptom
+98930131885ff3cb11de311ceb7083ba76b78d2c	However, @DISEASE$ can be clinically revealed during OLT, with the possible development of a transient overt @PHENOTYPICFEATURE$.	has_symptom
+cad313c37a6118366880a7983bb14a981086da9e	@DISEASE$ may be masked for years because of low systemic vascular resistance in cirrhosis, and overt @PHENOTYPICFEATURE$ can be precipitated by LT.	has_symptom
+379384ee3579c21f84ad3167619f9f03e9999180	@DISEASE$ is generally clinically latent and is unmasked when the patient is exposed to major physiological stress or after some procedures, thus leading to an overt @PHENOTYPICFEATURE$.	has_symptom
+0bbd37f9f5deb2ac5b08f3179225db6d12914992	[@DISEASE$-associated acute @PHENOTYPICFEATURE$ in a patient with decompensated alcoholic cirrhosis with massive hepatic hydrothorax].	has_symptom
+805b18985eee0dc844cf5d93f0b7f32920b697eb	Bietti crystalline dystrophy (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by intraretinal lipid inclusions with degeneration of the retina and sclerosis of the choroidal vessels, resulting clinically in progressive night blindness and constriction of the visual fields.	has_symptom
+22e0b66f983efd3b462dd8ed2d501ab710417e83	Bietti's crystalline dystrophy (@DISEASE$) is a rare, autosomal recessive @PHENOTYPICFEATURE$ disease associated with mutations in CYP4V2.	has_symptom
+07c8c0f3b1b88c0918994abc183d682a33a50567	@DISEASE$ (BCD) is a rare, autosomal recessive @PHENOTYPICFEATURE$ disease associated with mutations in CYP4V2.	has_symptom
+322592fadb5549dccd647ce426a77ae1a0548e8f	@DISEASE$ (BCR) is a distinct retinal degenerative disease characterised by @PHENOTYPICFEATURE$ with many yellow-white crystals located mainly at the posterior pole area.	has_symptom
+631c2c791a10f01243ee0effe511077bc27e2066	@DISEASE$ (BCD) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by multiple glistening intraretinal dots scattered over the fundus, degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field.	has_symptom
+2c2053b7784139857178b4443533d50194b0ca49	Bietti crystalline corneoretinal dystrophy (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by multiple glistening intraretinal dots scattered over the fundus, degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field.	has_symptom
+ddd5b474614e36bd2abdea52764e1b8d18f7bab7	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	has_symptom
+17eeef2b18f211ae1fe73b22ea6f19d54f323130	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+fb7219a2a39a6a575a15641be8ae473af0816e5a	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+a46726b9a6eaef281c075906c0087b537ddb62d0	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	false
+0f94de4e9214ab23245164b4e93ccb0a55ef066b	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+ec9d0e420f754950795018249963e71d34bc40e6	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+0bd41bd613302fe3bd53db0a3a9ccd0ff2fd74a0	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+0f8d37e47a6ba71cc241dbde00f154a1fdfd6c71	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	false
+6c615e0393c57e4dd61894c7f81580fe4ef92e6e	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, @DISEASE$, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	false
+d2c43ae71e68676f76736b051bf46fa278eec3a8	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+56ce231c4bc4edd2c177d4bd5dd4ce9cdefe4dbc	Two children had enteric fever (1 with associated HEV), 2 children had @DISEASE$, 1 child had Indian Childhood @PHENOTYPICFEATURE$ (ICC) and 2 children had drug induced hepatitis.	has_symptom
+5d7c9f9b9e431f6489e3da9506a1beea546a73bf	Patients with hereditary hemochromatosis or @DISEASE$ for example may develop severe hepatic pathology including fibrosis, @PHENOTYPICFEATURE$ or hepatocellular carcinoma.	has_symptom
+4ffdddd82f56fbc0800234c98e9c686ea611092d	These were compared with normal pediatric livers, as well as livers affected by primary sclerosing cholangitis, @DISEASE$, and cardiac @PHENOTYPICFEATURE$.	has_symptom
+55ff7a4e4b671950e1e1dec6ef51fed49d01a05b	@DISEASE$ and cardiac @PHENOTYPICFEATURE$ were present in one patient each.	has_symptom
+e0c348eb1ede0ac811f82e441006d7eb0aaf2d44	We present the case of a 6-year-old boy with both @DISEASE$ and underlying mitochondrial disease for examination under anesthesia before @PHENOTYPICFEATURE$ surgery.	has_symptom
+275dc3929b6d8b6c2acb6f44cfabdc84ce3e519a	@DISEASE$ in a Finnish woman presenting with psychosis and @PHENOTYPICFEATURE$.	has_symptom
+582810af3ab75730f5c1a35ede8fb3efe50b9885	Human @DISEASE$ is an inherited metabolic disease associated with autism and @PHENOTYPICFEATURE$.	has_symptom
+38b9d53ac82e545dd6609988490d5428e76e0cd2	Human ASL deficiency is an inherited @DISEASE$ associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+55b0c61df8193536491b9c194ffb2ec0a2f057d8	Human @DISEASE$ is an inherited metabolic disease associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+c65fa6cedd7e8f4ded040d2b0669401607ba9a8c	Human ASL deficiency is an inherited metabolic disease associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3fd5c7a28d13110ead7f252aab631396d41fd553	The most frequent associations are with breast, lung, bladder, prostate and @PHENOTYPICFEATURE$, while no correlation with @DISEASE$ has been demonstrated.	has_symptom
+8cd752607aa08cf6baf54509ce3c3f1427b48d29	The activity of superoxide dismutase, catalase, glutathione peroxidase and reductase and the level of glutathione, vitamin C, malondialdehyde and cancer procoagulant were determined in tumors and normal mucous from 18 patients with esophageal cancer, 18 patients with @PHENOTYPICFEATURE$ and 62 patients with @DISEASE$.	has_symptom
+b5a4ac53fe5cf281efc4136d424ec92b1093a81a	The activity of superoxide dismutase, catalase, glutathione peroxidase and reductase and the level of glutathione, vitamin C, malondialdehyde and cancer procoagulant were determined in @PHENOTYPICFEATURE$ and normal mucous from 18 patients with esophageal cancer, 18 patients with stomach tumor and 62 patients with @DISEASE$.	false
+022791ac486b4ffc8e1f796bae6efc4ba30cb859	The activity of superoxide dismutase, catalase, glutathione peroxidase and reductase and the level of glutathione, vitamin C, malondialdehyde and cancer procoagulant were determined in @PHENOTYPICFEATURE$ and normal mucous from 18 patients with esophageal cancer, 18 patients with @DISEASE$ and 62 patients with colorectal cancer.	false
+3e44b725baaf7d8012020979efba054449f26c79	The activity of superoxide dismutase, catalase, glutathione peroxidase and reductase and the level of glutathione, vitamin C, malondialdehyde and @DISEASE$ procoagulant were determined in @PHENOTYPICFEATURE$ and normal mucous from 18 patients with esophageal cancer, 18 patients with stomach tumor and 62 patients with colorectal cancer.	false
+0443bd94d6a70915b0e8ddf03f5a53ee60dceebc	The activity of superoxide dismutase, catalase, glutathione peroxidase and reductase and the level of glutathione, vitamin C, malondialdehyde and cancer procoagulant were determined in @PHENOTYPICFEATURE$ and normal mucous from 18 patients with @DISEASE$, 18 patients with stomach tumor and 62 patients with colorectal cancer.	false
+2d383b826a41484d187516b98e284fcd84a61a8a	The authors report on a 37-year-old woman with @DISEASE$ (TA) who had been suffering from progressive visual loss and recurrent @PHENOTYPICFEATURE$.	has_symptom
+6c3167af728278c43109ef928541e3c6b0020083	@DISEASE$ presenting as @PHENOTYPICFEATURE$: a case report and brief review of the literature.	has_symptom
+00cfef064dfb0963e5d77a6ba9682533dbb153ff	Neurological manifestations may complicate @DISEASE$ (TA) but @PHENOTYPICFEATURE$ are rare.	has_symptom
+cd0606752954496f9721001ed4055beab4ade1a1	We report a case of a female, age 17 years, with @DISEASE$ who presented to the hospital with @PHENOTYPICFEATURE$ and hypertensive crisis.	has_symptom
+6787d2c8c3ce32b70a3935dba10de2a113736edd	Prenatal diagnosis and genetic counseling in a case of @PHENOTYPICFEATURE$ in a family with @DISEASE$.	has_symptom
+80522d6280e2ed04bcd090ca4eed02841c7ba84d	The splotch (Sp) mouse mutant displays defects in neural crest cell migration and neural tube closure and serves as a model for the study of @PHENOTYPICFEATURE$, exencephaly, and @DISEASE$ in humans.	has_symptom
+907019307475879298fb3304cd326663bebc98bd	25 boys with @DISEASE$ were assessed for @PHENOTYPICFEATURE$ and ADHD.	has_symptom
+a76c1ca78a9aebf809c90ce5b6c35405533c3e91	The pattern of results in carrier females relative to controls was remarkably similar to that previously observed in males with @DISEASE$, with evidence for increased rates of developmental and mood disorders, and elevated levels of inattention, impulsivity, @PHENOTYPICFEATURE$-related traits and general psychological distress.	has_symptom
+655e523a93d3b931f910e94a5fc147961052d955	@DISEASE$ (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, @PHENOTYPICFEATURE$ and social communication deficits.	has_symptom
+85b63c21fc422626e58034524b1b54461f1e8d2c	X-linked ichthyosis (@DISEASE$) is associated with increased risk of attention deficit hyperactivity disorder, @PHENOTYPICFEATURE$ and social communication deficits.	has_symptom
+cb4a414fb2980121249c53ef13f0c6b9570b94fd	We have therefore undertaken a systematic study of @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder (ADHD) in boys with @DISEASE$.	has_symptom
+f8a49846170b2274fe16401e94a7d8de199c3e73	As such, an assay capable of measuring both very high (in the case of @DISEASE$) and very low (in the case of @PHENOTYPICFEATURE$) plasma CS levels is required.	has_symptom
+ed7d3618a0bd994e5991f87f4f9aa876e8b25ee5	Boys with @DISEASE$ and large deletions encompassing STS and NLGN4 are at increased risk of developing @PHENOTYPICFEATURE$ and related disorders.	has_symptom
+c3ffed93684ff0909545fafab49dbd6e6aba39fc	It is caused by @DISEASE$ and is often associated with further clinical problems, such as cryptorchidism (?20%) or social communication deficits, such as attention deficit hyperactivity syndrome (40%) or @PHENOTYPICFEATURE$ (25%).	has_symptom
+3fc49b7866c83b903718297c250a68253b49011a	Boys with @DISEASE$ were assessed for ADHD and @PHENOTYPICFEATURE$ using standardised questionnaires and interviews.	has_symptom
+688c0b3697b6cf1e62b3232a7fca2cfef0a6506d	Cherubism, gingival fibromatosis, epilepsy, and @PHENOTYPICFEATURE$ (@DISEASE$) with juvenile rheumatoid arthritis.	has_symptom
+db84d6d1cf0db8746b813fd5396923ec6f6e9aa5	The association of cherubism with gingival fibromatosis, epilepsy, @PHENOTYPICFEATURE$, stunted growth, and hypertrichosis is referred as @DISEASE$.	has_symptom
+53fb147a7c6d300fc64b1d320dab420787990575	Cherubism combined with epilepsy, @PHENOTYPICFEATURE$ and gingival fibromatosis (@DISEASE$): a case report.	has_symptom
+907b90e0750700561acbe39ba0c7dcb75c0d3e70	Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to deafness (palmoplanta keratoderma, @DISEASE$, Vohwinkel syndrome, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, etc.).	has_symptom
+4cc7c9251874a6a3b0242ff9919f20ec91a49fe7	Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to @PHENOTYPICFEATURE$ (palmoplanta keratoderma, @DISEASE$, Vohwinkel syndrome, keratitis-ichthyosis-deafness syndrome, etc.).	has_symptom
+b67afd047b90a1572123b4b7261b39644ac19948	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis @PHENOTYPICFEATURE$ syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and @DISEASE$.	has_symptom
+168f26e303748291f9d88373bfee8b3f593724d0	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis @PHENOTYPICFEATURE$, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and @DISEASE$.	has_symptom
+cf5ae5dfe1202eef06ffb6da016b92f217bb2a74	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, @PHENOTYPICFEATURE$ with Clouston-like phenotype, and @DISEASE$.	has_symptom
+0ff221ad0ac015497daa430a08ca28217d76b89c	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with @PHENOTYPICFEATURE$, deafness with Clouston-like phenotype, and @DISEASE$.	has_symptom
+508ac7fa6f07d72917b01d25dd25ea5b5f17087f	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like @DISEASE$ deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+ff3f8f8feac5fc05c467b7ed6c2d5750748db14d	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis @DISEASE$, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+96b72455bb2b6d210aaf81ff0041b4ab8ba65e34	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, @DISEASE$ with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+6f3a876165c00c5ac865e01ef057b22d776657f4	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis @DISEASE$ syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+9fb1bd89b4d634edd19a3a518d7325d3ace152f7	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with @DISEASE$, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+2312d75d318616762bf2ba1aa39d438d2fa0be12	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness @DISEASE$, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+d190293ebc2dd7e4f1aac690d0cc7b0a047da42b	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-@DISEASE$ deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+346c45a95c81ffdd2f64c3d58b9ef7802cc756b3	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, @DISEASE$ with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+c37629b4f9fa8598f3a8216060050a831b97e7d0	Mutations in connexin 26 are linked to diseases including @DISEASE$, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+ce276e91cdba77b9ccbd41d69d2512bef8086b1c	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and @DISEASE$.	false
+3f031d3f40346ff4e56c1777f675d631b4483361	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic @PHENOTYPICFEATURE$, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and @DISEASE$.	has_symptom
+9a5c60e5e903f65b714ec5c34f5b9a76f5ef59e1	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis @PHENOTYPICFEATURE$ syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and @DISEASE$.	has_symptom
+048c2d0335af92a565c56ea452458342d570a9e7	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic @PHENOTYPICFEATURE$ associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and @DISEASE$.	has_symptom
+b7037db701ee1d8457cece08ea70a2180ce5c183	For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis @PHENOTYPICFEATURE$ syndrome and @DISEASE$.	has_symptom
+8222526afcb3786c3032f9e05bac0fe1436baf0a	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	has_symptom
+0169e8bacf4f699bc4a08157757d19352f11d1a8	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or @DISEASE$ respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+8d0705b1ace077b38fe2c32af5713a3f06574aa2	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+d27a3c1d937fa9fb7c173168f73e9fe59186740f	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or @DISEASE$ respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+163a76e792e637a2c376c93f9e77e7bd49830b39	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+0af530e418c5ab3923c88cf84c5add88a2b5de17	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @DISEASE$ and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+977d9c00da72e0aa985d4334b352794254be7c0b	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+82d5476396330e8ad7094d980b4bf9d8a5f3e6d3	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+75fcecdecffdf6bcf27b6ef6d0b9779877b78763	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+67d8c21c2c018f5824e54f72e626e44e2bf2c5cb	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+2d31ac8a9cb0daa4c7b08539d88229af2b79baff	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @DISEASE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+f1e5118ac801d19de7822476cea07e8908dfca00	Since literature strongly suggests a high variability in the sPLA2 epileptogenic properties, we compared, in an acute model, PDX with crotoxin (@DISEASE$), known to induce @PHENOTYPICFEATURE$ and that may bind to similar neuronal receptors.	has_symptom
+2037fc111735774395799901650fc702c15ff3d5	Although seizures have been frequently noticed as part of CTX manifestations, there have not been reports of @DISEASE$ being diagnosed in drug-resistant epilepsy diagnostic workup nor of @PHENOTYPICFEATURE$ response to chenodeoxycholic acid treatment.	has_symptom
+981d5c668adaf8023f75fad77b5421ce72520cbc	Although @PHENOTYPICFEATURE$ have been frequently noticed as part of @DISEASE$ manifestations, there have not been reports of CTX being diagnosed in drug-resistant epilepsy diagnostic workup nor of seizure response to chenodeoxycholic acid treatment.	has_symptom
+8bc40bc15b23f3f8b54cc6e8f555d066990da769	Although @PHENOTYPICFEATURE$ have been frequently noticed as part of CTX manifestations, there have not been reports of @DISEASE$ being diagnosed in drug-resistant epilepsy diagnostic workup nor of seizure response to chenodeoxycholic acid treatment.	has_symptom
+d6202634d2da90e38325ec16d78319b12d61e0df	Although seizures have been frequently noticed as part of @DISEASE$ manifestations, there have not been reports of CTX being diagnosed in drug-resistant epilepsy diagnostic workup nor of @PHENOTYPICFEATURE$ response to chenodeoxycholic acid treatment.	has_symptom
+97a4b3ba9a21ef79757df11a7f7a8b9b9abf397c	A @DISEASE$ patient is reported who presented with a generalized @PHENOTYPICFEATURE$ and was evaluated with EEG and neuropsychological testing.	has_symptom
+c22c6b88b6d509bc1ca1998efee6616628e211ba	@DISEASE$ is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and @PHENOTYPICFEATURE$).	has_symptom
+78a845a21fdb212b1d9bdcef343c2731159050ce	@DISEASE$ is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$ and seizures).	false
+681e4316fa79ad96b9caeeecf1219a53815c9cf7	CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (@DISEASE$, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$ and seizures).	false
+1d908901ff9e87f525c6ce9aec6538f0cf4bd165	CTX is characterised by childhood-onset @PHENOTYPICFEATURE$, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and @DISEASE$).	false
+50d4fb22c44e2ec1dab3154c5e59ab28623e290f	CTX is characterised by childhood-onset @PHENOTYPICFEATURE$, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (@DISEASE$, psychiatric disturbances, pyramidal and/or cerebellar signs and seizures).	false
+7bc3441d4d7018d8542cfb0fb4d7a6899621e938	@DISEASE$ is characterised by childhood-onset @PHENOTYPICFEATURE$, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and seizures).	false
+6b3cce54ce0243f76a3f0d3004b3a895027d4737	CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$ and @DISEASE$).	false
+2c3f77c4db4cf32ebfa1eb19c5daa99722d572ba	Though electroencephalographic (EEG) abnormalities are frequent in @DISEASE$, @PHENOTYPICFEATURE$ have not been recognized as a major feature.	has_symptom
+fdac85fbba4d6cd8723644344bcdbbc8f8300f98	In acute lethal survival studies, mice treated with @DISEASE$ and BSO exhibited increased lethality with @PHENOTYPICFEATURE$ as a possible cause of death.	has_symptom
+86e55fa0991e383d3a4fcfc539632df25a84f8d0	Clinical characteristics of @DISEASE$ are diarrhoea, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and @PHENOTYPICFEATURE$.	has_symptom
+f9132807aab4f3c8fb9d3757c0385894b0a923d3	Clinical characteristics of CTX are @DISEASE$, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$, and seizures.	false
+84609cc5ba62a3fdcf6fe3fa4694b38e3e77b273	Clinical characteristics of CTX are @DISEASE$, @PHENOTYPICFEATURE$, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and seizures.	false
+797cfbddae4303660b5343d08a94346937e07b12	Clinical characteristics of CTX are diarrhoea, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3e9081f34f6c6656d6aa4096c2efe10a7d5425ae	Clinical characteristics of CTX are diarrhoea, @PHENOTYPICFEATURE$, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and @DISEASE$.	false
+0668cb7d3e89f6f716bca40497594aa32f55fafc	Clinical characteristics of @DISEASE$ are diarrhoea, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$, and seizures.	false
+24538dc1cded102dd2b01b93ca652fda96574d96	Clinical characteristics of @DISEASE$ are diarrhoea, @PHENOTYPICFEATURE$, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and seizures.	false
+41b3b30a262afc375cbcf27579d6b1de9b77cc07	[A case of @DISEASE$ with convulsive @PHENOTYPICFEATURE$].	has_symptom
+6dbd0d7a011022cd8d2b5bf6b4190bf185967c2d	Here, the authors present a case of a drug-resistant epilepsy patient with a complex phenotype where a diagnosis of @DISEASE$ was done and showed a significant reduction in @PHENOTYPICFEATURE$ frequency after chenodeoxycholic acid supplementation.	has_symptom
+44b7645ce004164ec1743b18caaeacf3b7841897	@PHENOTYPICFEATURE$ as a presenting symptom of @DISEASE$.	has_symptom
+d85e788bcee78c44371ce75a6c23e2a3583fa731	@DISEASE$ @PHENOTYPICFEATURE$ responsive to CDCA and Riluzole.	has_symptom
+a464696fad7bdb76009298c19166b2fa8ca70e64	@DISEASE$: a treatable @PHENOTYPICFEATURE$.	has_symptom
+7fdb3915741294246e1b5d4441e45900ae46ebbe	We report the case of a 45?year old woman diagnosed with @DISEASE$-related @PHENOTYPICFEATURE$.	has_symptom
+d7d39363481f7ef04cb4f909041c88908dfa0cc1	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare familiar disease characterized by tendon xanthomas, cataracts, @PHENOTYPICFEATURE$, dementia and an elevated serum cholestanol level.	has_symptom
+cd7311e9ae3eed46124f0c3635553ca41d387441	@DISEASE$ (CTX) is a rare familiar disease characterized by tendon xanthomas, cataracts, @PHENOTYPICFEATURE$, dementia and an elevated serum cholestanol level.	has_symptom
+7b8518e377ff2c10372b30c74703c42aed23a75a	@DISEASE$ (CTX) is a rare familiar disease characterized by tendon xanthomas, @PHENOTYPICFEATURE$, cerebellar ataxia, dementia and an elevated serum cholestanol level.	false
+fd43a882f8be86f35dc59e4298efc66e2d670ad4	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare familiar disease characterized by tendon xanthomas, @PHENOTYPICFEATURE$, cerebellar ataxia, dementia and an elevated serum cholestanol level.	false
+20a1cbde6de0c6c63e77e9b467aae344168e02a8	Cerebrotendinous xanthomatosis (CTX) is a rare familiar disease characterized by tendon xanthomas, @PHENOTYPICFEATURE$, @DISEASE$, dementia and an elevated serum cholestanol level.	false
+ce6c2254b52acaf71ceff45501d0cb33c8b06899	To date, there are no reports of symptomatic improvement in @DISEASE$ related @PHENOTYPICFEATURE$ following treatment with Riluzole.	has_symptom
+06bd90b291bdb173a18daf9b0078c17dd1ff2fa2	@DISEASE$: a treatable cause of metabolic @PHENOTYPICFEATURE$.	has_symptom
+592ab7024f961b07ecb4b1f57527a9181ef96ad5	Our observations may explain the mechanism of @PHENOTYPICFEATURE$ of @DISEASE$ patients.	has_symptom
+ed9981e95e4a31f0e2067c6cb27fa889164beb9c	@DISEASE$ (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and cataract.	has_symptom
+c976c936c2b546bcdc0841b0d9a95c051a7c622b	Cerebrotendinous xanthomatosis (@DISEASE$) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @PHENOTYPICFEATURE$, xanthoma, and cataract.	has_symptom
+0b3aab111c54eafaedcfa78d97d979cd567c6e56	Cerebrotendinous xanthomatosis (CTX) is a hereditary @DISEASE$ characterized by hyper-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	false
+09eddf10a9665b2db8e04fe84462b57209d715e4	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, cerebellar ataxia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5560784ecab2c0b46588d4ce2690e1e98a8482e3	Cerebrotendinous xanthomatosis (@DISEASE$) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	false
+da053ce645bfe181d892572afd35f323baab84ac	@DISEASE$ (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	false
+7668f9e7f729e5643b544ca68d2b9a7a5958eecf	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by @DISEASE$-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	false
+09feb2085eaf6327b3736b6b6809d1ccf8e754f2	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by hyper-cholestanolemia, @DISEASE$, xanthoma, and @PHENOTYPICFEATURE$.	false
+c6101bef2fa96e51564b21ffff4d7be77ff40460	@DISEASE$ with @PHENOTYPICFEATURE$ as the chief symptom.	has_symptom
+5413c5bf4b7fa253e7c0f7f8b7648402613efd9b	@DISEASE$: a rare cause of bilateral Achilles tendon swelling and @PHENOTYPICFEATURE$.	has_symptom
+d79e813d36521ea96ff732139035673be4de5514	We report a case of @DISEASE$ (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to @PHENOTYPICFEATURE$ and coma, feeding difficulties, failure to thrive and infections.	has_symptom
+d3f6cc975568fb374ea0a5cd10af6aaee7677e2f	We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to @DISEASE$ and coma, feeding difficulties, @PHENOTYPICFEATURE$ and infections.	false
+ce08148783ea4e3aa68a1c89258c226693ce7fb8	We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe @DISEASE$, occasionally leading to seizures and coma, feeding difficulties, @PHENOTYPICFEATURE$ and infections.	false
+6884e96b6700e6a1703e6f2d296d0a9770ac9307	We report a case of @DISEASE$ (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, @PHENOTYPICFEATURE$ and infections.	false
+bbe0a4783cee019b5eff44e95df9fcdb37011fa2	Four pediatric patients with diseases potentially curable by bone marrow transplantation (BMT)--i.e., common variable @PHENOTYPICFEATURE$, @DISEASE$ (WAS), mucopolysaccharidosis type VI, and mucopolysaccharidosis type I received a conditioning regimen consisting of busulfan and cyclophosphamide prior to BMT from HLA-identical, mixed leukocyte culture (MLC)-unreactive siblings.	has_symptom
+135da54e687694276bcc27fe49de3c43ba9ec3b4	We report here an infant with @DISEASE$, and intractable apneic @PHENOTYPICFEATURE$.	has_symptom
+96e3955ca6e9633dfc329de767286781759191aa	Detailed description of the onset, @PHENOTYPICFEATURE$ types, and prognosis of epilepsy associated with @DISEASE$ is rare.	has_symptom
+383857cfc9e9c622539a91c6f34bbe163007e70d	No systematic studies of incidence have been published, but autonomic @PHENOTYPICFEATURE$ simulating non-epileptic syncopes may be a feature of @DISEASE$.	has_symptom
+418636be98b437f82b424a64d14239a3ba141a44	It was suggested that the locus of 18q21.3-q22.3 was responsible for autonomic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+a72c305f65762cb9eb40f5ad6393e8c774260abd	Autonomic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+e0443ce53790fbbff53ee3d852e57b9b2b5632c9	Autonomic @PHENOTYPICFEATURE$ versus syncope in @DISEASE$: a case report.	has_symptom
+679fea05aa77be086b5e1ca4f660e7e1689d09f2	The present report is the first to describe autonomic @PHENOTYPICFEATURE$ in @DISEASE$ in a child.	has_symptom
+60e43a07e40ee583c6ea767883e71ba240039fe6	After 10-15 years, deafness, @PHENOTYPICFEATURE$, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset @DISEASE$ presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	has_symptom
+84b84554796fa88593fb8f623b19790ad16d3f2f	After 10-15 years, deafness, @DISEASE$, polyneuropathy, ichthyosis, and @PHENOTYPICFEATURE$ can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+40b585355bb52114818ec3518eab490d6c3c024a	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, polyneuropathy, @DISEASE$, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+5bdd5de4c8fc3de6e5fecfb7953005be48d66914	After 10-15 years, deafness, cerebellar ataxia, @DISEASE$, ichthyosis, and @PHENOTYPICFEATURE$ can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+86712ddc01757d479b690bc4db2d9265c0a65a0f	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, @DISEASE$, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+40e6d520d52d081de9e66e47a81f25b6032630c9	After 10-15 years, @PHENOTYPICFEATURE$, cerebellar ataxia, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset @DISEASE$ presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+9c872885b8d73570fa641d046ac8a966096cb803	After 10-15 years, deafness, cerebellar ataxia, polyneuropathy, @DISEASE$, and @PHENOTYPICFEATURE$ can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+3adf6f33e1eb29908e78c0d352ab39d400fed03e	After 10-15 years, deafness, cerebellar ataxia, polyneuropathy, ichthyosis, and @PHENOTYPICFEATURE$ can occur.We report the case of a very late-onset @DISEASE$ presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+f6015b20fc06df3b2818d9523bae3cc24daaf845	After 10-15 years, @PHENOTYPICFEATURE$, @DISEASE$, polyneuropathy, ichthyosis, and cardiac arrhythmia can occur.We report the case of a very late-onset adult Refsum disease presenting with marked cognitive decline and severe leukoencephalopathy, without peripheral nervous system involvement.	false
+0485952eafa8799f57fcf7340a53e20c7c6d968c	Furthermore the heart is commonly involved in some hereditary and degenerative diseases (Friedreich's @PHENOTYPICFEATURE$ and Kugelberg-Welander syndrome) and acquired (Guillain-Barr? syndrome) or inherited (@DISEASE$ and Charcot-Marie-Tooth syndrome) polyneuropathies.	has_symptom
+670bd124ee052c5308f70fc2c94ce72827bab1b7	@DISEASE$ is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, @PHENOTYPICFEATURE$ and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	has_symptom
+93cba552f2d1cb6092fde8fb7d50b4bc2bc474f0	Refsum disease is an @DISEASE$ characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, @PHENOTYPICFEATURE$, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+ccffc843f9e8581f323ed15f6b47ba4eef0a2713	Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, @PHENOTYPICFEATURE$, @DISEASE$ and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+9f6c84814cdb9bf9a3df3cd2a7722bd99cebf3bc	Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: @DISEASE$, @PHENOTYPICFEATURE$, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+803b21fe4788d0cb0dd6bc80872554061dda24f6	@DISEASE$ is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, @PHENOTYPICFEATURE$, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF.	false
+af4befe41075a0c9574dfff47f3bf69dd5e5f249	It should be differentiated with adrenoleucodistrophy, @DISEASE$ and NARP syndrome (neuropathy, @PHENOTYPICFEATURE$, pigmentive retinitis).	has_symptom
+75254d8dc109a16280515af800b1c439f70e29b4	@DISEASE$ is an autosomal recessive disorder characterized by retinitis pigmentosa, peripheral polyneuropathy, @PHENOTYPICFEATURE$ and increased cerebrospinal fluid protein.	has_symptom
+9743dfa55d2ea548b9aa3a81ce48c8cf7f86e8d7	A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some entities (abetalipoproteinaemia, @PHENOTYPICFEATURE$ with vitamin E deficiency, @DISEASE$, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, Wilson disease).	has_symptom
+8d90e2d49f326e9412cbbdee3d64cfa25b9a3662	@DISEASE$ is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy, @PHENOTYPICFEATURE$, and an accumulation of phytanic acid in plasma and tissues.	has_symptom
+8a5b06dc647f5102b1c9f8657c2ee07fe39878a6	Refsum disease is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$, ataxia, and an accumulation of phytanic acid in plasma and tissues.	false
+b8cf54b198f09db80c56589230b934c412840595	Refsum disease is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, anosmia, @PHENOTYPICFEATURE$, @DISEASE$, and an accumulation of phytanic acid in plasma and tissues.	false
+7603ec35bd6a6d2047887acb2184ce9da86dcfe2	Refsum disease is a peroxisomal disorder characterized by adult-onset @DISEASE$, anosmia, @PHENOTYPICFEATURE$, ataxia, and an accumulation of phytanic acid in plasma and tissues.	false
+3a4e8dfb3c9fb56cf82a9c6cf4dc1a49ec59c620	Refsum disease is a @DISEASE$ characterized by adult-onset retinitis pigmentosa, anosmia, @PHENOTYPICFEATURE$, ataxia, and an accumulation of phytanic acid in plasma and tissues.	false
+520ae13a42653458dfe040fb0240cce51ba17f2f	@DISEASE$ is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, anosmia, @PHENOTYPICFEATURE$, ataxia, and an accumulation of phytanic acid in plasma and tissues.	false
+abf21d8d62777f9406ddeb1bfa0d6f4f848c772f	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	has_symptom
+da30da1a3c74340e0a377f3ca62e4eb22b39e6ec	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+e708d1150963a86639d1b7ca7e49e72f16ba28c7	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+1f6bf145666269a5cb6205d6f502e94bace16b0c	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @DISEASE$ with @PHENOTYPICFEATURE$ and deafness.	false
+2a0f7e3ae1115fbb7fc611a2e8da44207ccc46f1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+508fe73b61d4f603b7071024d574c190db516a9e	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+58d0e2da62232cf43f44258386198e69c3924475	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+76942d47c3252314277ec1ac49de744d76e514a1	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @DISEASE$ with blindness and @PHENOTYPICFEATURE$.	false
+a3c19dc172e775030057384010cf76ca68c37e78	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+dfc3bd354d922d7e88791299fd728d0e3d1bd3d3	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+e9c7c1dfc3681862abb5cc0c51af2026fae2ec23	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+e16d68ff731d95a43c062cc63e2e8254cd27f860	Other forms are much less frequent, and include ataxia with vitamin E deficiency, abetalipoproteinemia. @DISEASE$, spastic ataxia, infantile onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with oculomotor apraxia.	has_symptom
+d3e7b29007125bdbf636d84ae582c5517be50204	Other forms are much less frequent, and include @PHENOTYPICFEATURE$ with vitamin E deficiency, abetalipoproteinemia. @DISEASE$, spastic ataxia, infantile onset spinocerebellar ataxia, and ataxia with oculomotor apraxia.	has_symptom
+87a0ab66574b714fdf7b47079f1c6456ef876fd7	These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of @DISEASE$ such as retinitis pigmentosa, @PHENOTYPICFEATURE$, nerve deafness and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of Refsum disease.	has_symptom
+b44ef1db44f4d32ee1adbce14d7aaf151be16625	These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of Refsum disease such as retinitis pigmentosa, @PHENOTYPICFEATURE$, nerve deafness and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of @DISEASE$.	has_symptom
+18124c8f022a1d82185ae61b0fa544d8c955f7c3	These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of @DISEASE$ such as retinitis pigmentosa, cerebellar ataxia, nerve @PHENOTYPICFEATURE$ and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of Refsum disease.	false
+d83af6767977c4e2677ab9e68823342041d7c241	These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of Refsum disease such as @DISEASE$, cerebellar ataxia, nerve @PHENOTYPICFEATURE$ and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of Refsum disease.	false
+c6bcbd3847c0d7ea2cfff281f21956668f9ffcd6	These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of Refsum disease such as retinitis pigmentosa, cerebellar ataxia, nerve @PHENOTYPICFEATURE$ and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of @DISEASE$.	false
+393b551fe33601bef25cb2ca8440d0b90d624ef7	These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of Refsum disease such as retinitis pigmentosa, @DISEASE$, nerve @PHENOTYPICFEATURE$ and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of Refsum disease.	false
+5fb08b75c2dfd11202a2601789929b5a3a7bdb45	@DISEASE$ is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia, camptodactyly with ulnar deviation of the fingers, and @PHENOTYPICFEATURE$.	has_symptom
+2682c9dd5dec8e23d03450eb322aac385a5fda5c	To define the mutation type in a clinically suspected Egyptian child with @DISEASE$ (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, @PHENOTYPICFEATURE$, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth.	has_symptom
+68b9104949d5b0ef03c5e69d13320a6916ee220c	To define the mutation type in a clinically suspected Egyptian child with @DISEASE$ (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with @PHENOTYPICFEATURE$, long philtrum, small pinched nose and pursed mouth.	false
+495d6c93f281065431d78a60edeaa152b6341133	To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, @DISEASE$, while the facial characteristics include deep-sunken eyes with @PHENOTYPICFEATURE$, long philtrum, small pinched nose and pursed mouth.	false
+bc3975f4ee91cdf3b6646657838ea9708e2bfb3d	@DISEASE$ is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, @PHENOTYPICFEATURE$ and generalized muscular hypertension.	has_symptom
+13d1a02bfc95588cca85844f62dda46bd462cb0e	Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by @PHENOTYPICFEATURE$ and premature osteoarthritis.	has_symptom
+2c8f51513da17620082e56920eeff41bbafe7dc3	Pseudoachondroplasia (PSACH) and @DISEASE$ (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by @PHENOTYPICFEATURE$ and premature osteoarthritis.	has_symptom
+9e747689a009e91a35dc5f5d39e416f6e3808499	Mutations in the cartilage oligomeric matrix protein (COMP) gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and @DISEASE$ (MED), which are autosomal dominant disorders characterized by @PHENOTYPICFEATURE$.	has_symptom
+f51a0ac22f74ff19daaef257304e750c363d936d	Mutations in the cartilage oligomeric matrix protein (COMP) gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$), which are autosomal dominant disorders characterized by @PHENOTYPICFEATURE$.	has_symptom
+6d0f8da638f6b910f67b06505396148ecaa92515	@DISEASE$ (NA) is characterized by the clinical triad of pain, @PHENOTYPICFEATURE$/atrophy, and sensory symptoms.	has_symptom
+3fc86d8a9fc0456dade79d35bffb7a5d281b57d8	@DISEASE$ (NA) is characterized by acute onset of severe pain, followed by @PHENOTYPICFEATURE$ and wasting of the shoulder girdle.	has_symptom
+50e8ffbe83b49f1f93b858363385918c953051cc	Hereditary @DISEASE$ (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of painful brachial plexus neuropathy with @PHENOTYPICFEATURE$ and atrophy, as well as sensory disturbances.	has_symptom
+1660d479cfa68ac04d847535668793f4013fb064	Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ @DISEASE$ with muscle weakness and atrophy, as well as sensory disturbances.	false
+46301128c99dc535b300f5e526485b10a815d224	Hereditary @DISEASE$ (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances.	false
+2a7de8b05234a6fb4d1a37b604618542f77d6703	Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal @DISEASE$ characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances.	false
+2276405a74ec87c887ce9677c5f175a78e36a48d	Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with @DISEASE$ and atrophy, as well as sensory disturbances.	false
+ee46bd1f68aa52a595b102696ef5ecb9a9c2a5ca	@DISEASE$ (NA), which is an idiopathic disorder in the peripheral nerves, is characterized by an acute onset of unilateral pain in the proximal limbs followed by @PHENOTYPICFEATURE$ and wasting.	has_symptom
+2ffc6db5d036d1617f32035c207b1de73beba993	Polydactyly, genital abnormalities, extra nipple, and @PHENOTYPICFEATURE$ are more frequently observed in @DISEASE$ with mutations in CDKN1C.	has_symptom
+edc48243d4430b0744d90cf5443da358e4abaa59	@PHENOTYPICFEATURE$, genital abnormalities, extra nipple, and @DISEASE$ are more frequently observed in BWS with mutations in CDKN1C.	false
+4ab6be3df12a6b7da7273f16a963c75e6e11b1de	Polydactyly, @PHENOTYPICFEATURE$, extra nipple, and cleft palate are more frequently observed in @DISEASE$ with mutations in CDKN1C.	false
+0654643db6f93f82d36d4394b0078758c63df4cd	Polydactyly, @PHENOTYPICFEATURE$, extra nipple, and @DISEASE$ are more frequently observed in BWS with mutations in CDKN1C.	false
+ded919591eb2fe264427eadbb80f350f3a7f7821	@PHENOTYPICFEATURE$, genital abnormalities, extra nipple, and cleft palate are more frequently observed in @DISEASE$ with mutations in CDKN1C.	false
+2dc013515b9c6c9655f39d3e3589a9d7f4cb508d	The treatment of patients with @PHENOTYPICFEATURE$ and @DISEASE$ remains complex.	has_symptom
+cfea6341710b390b40e3ff16385ddb6b78ea164a	Of four patients with @DISEASE$, only two had a @PHENOTYPICFEATURE$.	has_symptom
+e20f9d922df960be42cfdb5700276c87f58869a1	These mice display many of the characteristics of @DISEASE$, including placentomegaly and dysplasia, kidney dysplasia, macroglossia, @PHENOTYPICFEATURE$, omphalocele, and polydactyly.	has_symptom
+cf4e393195aa5c84d137ac33176506d0cdbd2820	These mice display many of the characteristics of @DISEASE$, including placentomegaly and dysplasia, kidney dysplasia, macroglossia, cleft palate, omphalocele, and @PHENOTYPICFEATURE$.	false
+872299fee15eb5d98eb66de8269818b450b3d3ce	These mice display many of the characteristics of BWS, including placentomegaly and dysplasia, kidney dysplasia, macroglossia, @DISEASE$, omphalocele, and @PHENOTYPICFEATURE$.	false
+4f2fea70d06f7cc9c0557b69e6ec92a2cd157c56	Anesthetic considerations of 21-mo-old and 4-yr-old sisters with @DISEASE$ during surgical repair of @PHENOTYPICFEATURE$ and reduction of macroglossia are presented and discussed.	has_symptom
+c42b5708087c7f74607d5f443a545555dfd5cf3e	Although cleft palate in association with this syndrome has been rarely reported, we have observed 6 patients with @PHENOTYPICFEATURE$ in 10 patients who were diagnosed with the @DISEASE$.	has_symptom
+df5fc3c57dee682638307e0beaa41acd64e062cf	Although @PHENOTYPICFEATURE$ in association with this syndrome has been rarely reported, we have observed 6 patients with cleft palate in 10 patients who were diagnosed with the @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+fe6156e0aaa2cb570d14f3bbb9e22f2f6f9d6846	A novel mutation in CDKN1C in sibs with @DISEASE$ and @PHENOTYPICFEATURE$, sensorineural hearing loss, and supernumerary flexion creases.	has_symptom
+fbff55f34c7b50359ed5da1d44b0a3dc72e0497a	A novel mutation in CDKN1C in sibs with @DISEASE$ and cleft palate, @PHENOTYPICFEATURE$, and supernumerary flexion creases.	false
+785aebe66f88b8228adfbddb65d0cbb230ed5b6f	A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and @DISEASE$, @PHENOTYPICFEATURE$, and supernumerary flexion creases.	false
+c8d5860221ff45d516757a470b0e5909e62252e8	The subject was a 9-year-old boy exhibiting various abnormal features characteristic of @DISEASE$, who had undergone frequent surgical management for conditions such as umbilical hernia, polydactyly, inguinal hernia, @PHENOTYPICFEATURE$ and lip, and undescended testis.	has_symptom
+c2f728528483330d66efdc0140106f2d12466611	The subject was a 9-year-old boy exhibiting various abnormal features characteristic of BWS, who had undergone frequent surgical management for conditions such as umbilical hernia, @PHENOTYPICFEATURE$, inguinal hernia, @DISEASE$ and lip, and undescended testis.	false
+49b8f9331b863413177c78925b1fbc12d4177508	The subject was a 9-year-old boy exhibiting various abnormal features characteristic of @DISEASE$, who had undergone frequent surgical management for conditions such as umbilical hernia, @PHENOTYPICFEATURE$, inguinal hernia, cleft palate and lip, and undescended testis.	false
+eddd42ab9f104724bb8818624249d61bc28fb6c5	CDKN1C sequencing should be performed for @DISEASE$ patients presenting with abdominal wall defects or @PHENOTYPICFEATURE$ without 11p15 methylation defects or body asymmetry, or in familial cases of BWS.	has_symptom
+17e9283d23a3e5dccd5fca5378cf859597542e43	CDKN1C sequencing should be performed for BWS patients presenting with abdominal wall defects or @PHENOTYPICFEATURE$ without 11p15 methylation defects or body asymmetry, or in familial cases of @DISEASE$.	has_symptom
+6b1cdfd114e7cddac9289ebcd322666f76d0afb0	Because a similar polyneuropathy was recently reported in a case with @DISEASE$, it is possible that these cases represent a new type of hereditary motor and sensory neuropathy associated with @PHENOTYPICFEATURE$.	has_symptom
+668bca925e9825ed9a2dc8168689c695eff9f681	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, @PHENOTYPICFEATURE$, dysarthria, intellectual disability, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	has_symptom
+24f88c2bdd21126905c063f4b7fcc71a92668890	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+b257892399505d7340fd5ba2c2e934d033f2c21b	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and @DISEASE$), DYT4 should not be categorized as a primary dystonia.	false
+beb84df3d478412b9208944e329338ff55014ed7	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, @PHENOTYPICFEATURE$, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary @DISEASE$.	false
+56c1d04ab670ba23a0b1141480723c386035853f	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary @DISEASE$.	false
+4214c2494346abd9bcb15bec00323a14c5376d62	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, @PHENOTYPICFEATURE$, dysmorphic facial features, and @DISEASE$), DYT4 should not be categorized as a primary dystonia.	false
+f26090f1e06b3288a9db95e428c4a62caec65198	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, ataxia, dysarthria, @PHENOTYPICFEATURE$, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+4d15a46ee02c2faaf74e1efb747ba9d85bd293c4	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, @DISEASE$, dysarthria, @PHENOTYPICFEATURE$, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+0d02aa0c6c4f8b619ad0eb962eddfade9d465abf	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, @DISEASE$, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+f464b27216ad7b28a4d57a9d887020905ad72009	Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and @PHENOTYPICFEATURE$, diagnosed as @DISEASE$ based on imaging modalities.	has_symptom
+532550036bb9fb8ee9f18c4dfebc4492702378eb	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	has_symptom
+94dc57650276c30a078a4584edafb0ee880f208a	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+ac75e68b7ae21ea9930db78a5da0d4fc0171c98d	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+957478ce4a4e6cdb8b5b26f721630ee67093fd90	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+07a619ee3bc36343d80732168526986727d20e17	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @DISEASE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+69a30ea97498e77acf39f53e9cdf02e7c4df4578	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @DISEASE$, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+edfaf372379442574cd53f6590ef0ea4b85e59de	@DISEASE$ is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+daa2b50dca64a4e43a7d43d187911b9ba061b657	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, @DISEASE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+6c3dd483d9f5c0f2cff06aad2689be21c9525992	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @DISEASE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+5b621c549c8fadf3c1868c957423eef9f5df28ce	Two patients had partial @PHENOTYPICFEATURE$ and one patient had @DISEASE$.	has_symptom
+73c835cda0118ec23184c739b05d96cf3b538312	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset @PHENOTYPICFEATURE$, peripheral neuropathy, and progressive optic atrophy.	has_symptom
+d3bd52d93ef8be59102673f022bf0243994bb282	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive @PHENOTYPICFEATURE$.	false
+11310c85ab6dfdc61584e08ea26b1a7c88e6a041	@DISEASE$ (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, @PHENOTYPICFEATURE$, and progressive optic atrophy.	false
+013596bb4a635d2a0870ba55953fa06448c852e3	X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset @DISEASE$, peripheral neuropathy, and progressive @PHENOTYPICFEATURE$.	false
+b001443ee7f889ee403f1658a4c5dcadf6bd9e92	X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset @DISEASE$, @PHENOTYPICFEATURE$, and progressive optic atrophy.	false
+0b16e8dd7aae9da03f54eb2090435f226bb52604	@DISEASE$ (CMTX5), Arts syndrome, and non-syndromic @PHENOTYPICFEATURE$ (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1.	has_symptom
+1509303169850bd808d2f069683b20060c43c7be	The occurrence of @PHENOTYPICFEATURE$ is common in patients with @DISEASE$, but unusual in patients with mutation in the ZIC2 gene.	has_symptom
+d8012d563de6a27ee6d0a31c9d6f606fcbafc3f5	@DISEASE$ is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and @PHENOTYPICFEATURE$ tumors.	has_symptom
+ce0479bd8f7002b6d025933ef4ab6fdea92858b4	Proteus syndrome is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and @DISEASE$ @PHENOTYPICFEATURE$.	false
+26d96184064a5bd02812a2b3d70d13ef7db33b7e	@DISEASE$ is a rare congenital disorder in which the major clinical manifestations are skeletal deformities and hamartomatous @PHENOTYPICFEATURE$.	false
+e069ad16e9c590378fcee6dbbb4d6e51eb47612a	The @DISEASE$ is a rare disorder in which the major manifestations are skeletal overgrowth, digital hypertrophy, exostoses of the skull, and @PHENOTYPICFEATURE$ tumors.	has_symptom
+e08b97cd340a6ef3706935ad539a03c023568726	The Proteus syndrome is a rare disorder in which the major manifestations are skeletal @PHENOTYPICFEATURE$, digital hypertrophy, exostoses of the skull, and @DISEASE$ tumors.	false
+e7157f976b4d6ae9346a369a3f4780021172fe8e	The Proteus syndrome is a rare disorder in which the major manifestations are skeletal overgrowth, digital hypertrophy, exostoses of the skull, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+4552d4b45b4477450bf856b1d39e8e2c724aa9d8	The @DISEASE$ is a rare disorder in which the major manifestations are skeletal overgrowth, digital hypertrophy, exostoses of the skull, and hamartomatous @PHENOTYPICFEATURE$.	false
+2d57fc1abe567a4990570f801bf1244a2745542c	The @DISEASE$ is a rare disorder in which the major manifestations are skeletal @PHENOTYPICFEATURE$, digital hypertrophy, exostoses of the skull, and hamartomatous tumors.	false
+0d21c02f09204960b7daa584998d031533fd2b5d	This report is the first description of a @PHENOTYPICFEATURE$ directly involving a peripheral nerve in @DISEASE$.	has_symptom
+12fee9729b9c4a65f89ad094db7e0cdf63bc5c7b	@DISEASE$ is a congenital @PHENOTYPICFEATURE$ dysplasia.	has_symptom
+b3601f958a77be5bc6f5765dadff806670ac3382	Connective tissue nevi represents a kind of @PHENOTYPICFEATURE$, and coalescence of the lesions in a cerebriform mode in the lumbar region without @DISEASE$ is rarely seen.	has_symptom
+e322c94b4b73a8f85876adbd2aff68e31f9e63a2	We report a case of CLOVES syndrome initially diagnosed as @DISEASE$, revealed by infection of a dorsal lipomatous @PHENOTYPICFEATURE$.	has_symptom
+09e9739b6dfebb46196e37197e08c740ea393679	[@DISEASE$ and encephalo-cranio-cutaneous lipomatosis, are they the same @PHENOTYPICFEATURE$?	has_symptom
+b25d2e77ba1d40952c1dcdece550574ab1351760	Paraparesis caused by an angiolipomatous @PHENOTYPICFEATURE$ in an adolescent with @DISEASE$ and scoliosis.	has_symptom
+f1ffe29fe4939d395c9432938c43729e250198e3	[Bifocal lesion of striated muscle (@PHENOTYPICFEATURE$ or focal myositis) in the course of @DISEASE$].	has_symptom
+4d0ecba2d04c9f39a06fa77bf466f80d3d4bec4b	This 16-year-old boy with @DISEASE$ suffered acute spinal cord compression secondary to hemorrhage into an extradural paraspinal angiolipomatous @PHENOTYPICFEATURE$.	has_symptom
+2194939677b30d7b11e84040729bc5cb01a7eba1	@DISEASE$ (NF2) is a rare @PHENOTYPICFEATURE$ disorder associated with the development of multiple central and peripheral nervous system tumors.	has_symptom
+5517e2b6df46a312a39b2f8f306a27c9f5f8ce33	Our studies implicate CEP290-RKIP pathway in @DISEASE$290-retinal degeneration and suggest that targeting RKIP levels can delay photoreceptor degeneration, assisting in extending the time-window for treating such rapidly progressing @PHENOTYPICFEATURE$ disorder.	has_symptom
+3b30600a846c5552dc1e1a74adeb0c9927b5856b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+2beff5036d4f92d28a747024f866989db04a036b	The diagnosis of @DISEASE$ is based upon characteristic histologic changes, including foveolar hyperplasia, cystic @PHENOTYPICFEATURE$ of pits, and reduced numbers of parietal and chief cells.	has_symptom
+908e81cb76698c3cdbdf399bd03bf5eba6813a98	@DISEASE$ (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, @PHENOTYPICFEATURE$, platyspondyly, and reduced thoracic cavity.	has_symptom
+3f516c15d8e4b974dc4bafd7ec8475bf1a1b4d66	Thanatophoric dysplasia (TD) is the most common form of lethal neonatal @PHENOTYPICFEATURE$ with micromelic shortening of the limbs, @DISEASE$, platyspondyly, and reduced thoracic cavity.	false
+a7d408956634069bf73205ac10aac296df901b99	@DISEASE$ (TD) is the most common form of lethal neonatal @PHENOTYPICFEATURE$ with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity.	false
+6091185ee56286649ca2397290c325516e009a87	@DISEASE$ (TD) is a lethal form of short-limb skeletal dysplasia that is associated with @PHENOTYPICFEATURE$, and variably cloverleaf skull.	has_symptom
+000f480930726b7dcce89f446a96bd94e7631774	Thanatophoric dysplasia (TD) is a lethal form of @PHENOTYPICFEATURE$ skeletal dysplasia that is associated with @DISEASE$, and variably cloverleaf skull.	false
+5900412bf2ab9bc6406693559d7a7858c730f362	Thanatophoric dysplasia (TD) is a lethal form of short-limb @PHENOTYPICFEATURE$ that is associated with @DISEASE$, and variably cloverleaf skull.	false
+1ca6964e375d93f95b702160334b5dd83b5c4cc2	@DISEASE$ (TD) is a lethal form of @PHENOTYPICFEATURE$ skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull.	false
+7885a3f5ea4099f13bf1e1eb794f850be7d189d8	@DISEASE$ (TD) is a lethal form of short-limb @PHENOTYPICFEATURE$ that is associated with macrocephaly, and variably cloverleaf skull.	false
+0316d3b0f61a319de81bad4d5979b442277316b4	Lung/body, brain/body, and brain/lung weight ratios confirm @PHENOTYPICFEATURE$ and lung hypoplasia, which are constant findings in cases involving @DISEASE$.	has_symptom
+b050412a0ae09de5fe21ab0251e834aefadbad55	The authors describe a male neonate who had characteristic features of @DISEASE$ type I including severe shortening of limbs with redundant skin folds, @PHENOTYPICFEATURE$, frontal bossing, depressed nasal bridge, and narrow thoracic cage with severe respiratory insufficiency.	has_symptom
+1666843b77c44e098d913949fcd901c0f6e269e0	To analyze a case of cerebrotendinous xanthomatosis (@DISEASE$) with @PHENOTYPICFEATURE$ as the initial neurological symptom.	has_symptom
+8e68ae0c84a32c47d7353010f99b1e472b97d861	To analyze a case of @DISEASE$ (CTX) with @PHENOTYPICFEATURE$ as the initial neurological symptom.	has_symptom
+cf14496dd349d1b22938505544f14f2f11edc544	In conclusion, one should consider the possibility of @DISEASE$ in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, @PHENOTYPICFEATURE$, cerebellar ataxia and peripheral neuropathy.	has_symptom
+e8f096d53b746109643d6b311396418fd0f59a8a	In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, @DISEASE$, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+cf190ca9f079aabb973c2c65608e863d745fbd33	In conclusion, one should consider the possibility of @DISEASE$ in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, mental retardation, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+5a22cc69e8655a6c8384f6ea6151d7bb317c8bba	In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+1e26757a73c9d7ed76feebda83de6ca7bfc2e56a	In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic @DISEASE$, early-onset @PHENOTYPICFEATURE$, mental retardation, cerebellar ataxia and peripheral neuropathy.	false
+a4cf1e18da26e6cab28248421917c04245c9a56b	In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic @DISEASE$, early-onset cataracts, mental retardation, @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+46fbb45722c880eba94a77986bf6b7c302f506d4	In conclusion, one should consider the possibility of @DISEASE$ in any individual with normocholesterolemic xanthomatosis, early-onset @PHENOTYPICFEATURE$, mental retardation, cerebellar ataxia and peripheral neuropathy.	false
+9dfc6345de379e9c691f4fe3df8b524ae19d8c7c	In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic xanthomatosis, early-onset @PHENOTYPICFEATURE$, @DISEASE$, cerebellar ataxia and peripheral neuropathy.	false
+e1442ffedf33ea0878115d305efc480dcd2c136b	In conclusion, one should consider the possibility of @DISEASE$ in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, mental retardation, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+09808d3baa4a7c7723a23b0cecd1ddf5a072bb21	In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic @DISEASE$, early-onset cataracts, mental retardation, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+d856b5702bb0bccb5bceff85fda0b7f6a69da3d2	Cerebrotendinous xanthomatosis (@DISEASE$) is a hereditary disorder, which is inherited as an autosomally recessive disease, causing production of cholesterol and cholestanol xanthomas and @PHENOTYPICFEATURE$.	has_symptom
+2da56167d9d27586c460c8161acdec8291a5ca5b	@DISEASE$ (CTX) is a hereditary disorder, which is inherited as an autosomally recessive disease, causing production of cholesterol and cholestanol xanthomas and @PHENOTYPICFEATURE$.	has_symptom
+02a1efeccc4d962d582c2b3c9ef2cd6c64427c36	None of the @DISEASE$ patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese CTX patients were tendinous xanthomas, followed by ataxia and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, @PHENOTYPICFEATURE$ and/or psychiatric disturbance, and polyneuropathy.	has_symptom
+023e1142ff3c94ac10e5ffc4142126e5d53607ee	None of the CTX patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese @DISEASE$ patients were tendinous xanthomas, followed by ataxia and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, @PHENOTYPICFEATURE$ and/or psychiatric disturbance, and polyneuropathy.	has_symptom
+b4a7b8550e00067066d963b3a60f5903686bf917	None of the @DISEASE$ patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese CTX patients were tendinous xanthomas, followed by @PHENOTYPICFEATURE$ and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, intellectual disability and/or psychiatric disturbance, and polyneuropathy.	false
+80694236c9ee8b622619b3cfb7437f921ec2e9cb	None of the CTX patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese CTX patients were tendinous xanthomas, followed by @PHENOTYPICFEATURE$ and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, @DISEASE$ and/or psychiatric disturbance, and polyneuropathy.	false
+0d55563a792f035c564d7e139ab626474938323e	None of the CTX patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese CTX patients were tendinous xanthomas, followed by @PHENOTYPICFEATURE$ and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, intellectual disability and/or psychiatric disturbance, and @DISEASE$.	false
+8c1c772d89237c44e316f376285e1fc77bca87c4	None of the CTX patients in Taiwan were diagnosed during childhood or adolescence, and the most common clinical features of the 9 Taiwanese @DISEASE$ patients were tendinous xanthomas, followed by @PHENOTYPICFEATURE$ and/or spastic paraparesis, dentate nuclei signal alternation at magnetic resonance imaging, intellectual disability and/or psychiatric disturbance, and polyneuropathy.	false
+ecbeebf4f92493e39176a88a91c2f3753f60a915	[Analysis of a @DISEASE$ case with @PHENOTYPICFEATURE$ as the initial symptom].	has_symptom
+a0b35417d41e897c0d433a3fa43162eba1e8ecdd	Clinicians should be alert to @DISEASE$ when the patient has @PHENOTYPICFEATURE$ caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous xanthomatosis and cataracts.	has_symptom
+108ea1b09157c58e2356d6c7294fd784f17e0f23	Clinicians should be alert to cerebrotendinous xanthomatosis when the patient has @DISEASE$ caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous xanthomatosis and @PHENOTYPICFEATURE$.	false
+cfdc5fb247603571bb4e90c1624d894f75db0484	Clinicians should be alert to cerebrotendinous xanthomatosis when the patient has mental retardation caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous @DISEASE$ and @PHENOTYPICFEATURE$.	false
+64b85c0c7783be10e9e67a6e52d04fabcb5ed8a1	Clinicians should be alert to @DISEASE$ when the patient has mental retardation caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous xanthomatosis and @PHENOTYPICFEATURE$.	false
+11f2cff984bd7ca53f34b2bcb73b992a8085fc96	We suggest that, awareness of intention tremor and ataxic gait in addition to @PHENOTYPICFEATURE$, peripheral neuropathy and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	has_symptom
+c0eefa0e36e561a6ba1942fd99f7799ff7a36fa4	We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, peripheral neuropathy and early @PHENOTYPICFEATURE$ can be suspicious for @DISEASE$ and lead diagnosis.	false
+b8da18479051addafcdce2baf06c2f2311a57a01	We suggest that, awareness of intention tremor and ataxic gait in addition to @DISEASE$, @PHENOTYPICFEATURE$ and early osteoporosis can be suspicious for CTX and lead diagnosis.	false
+ffe9244fc9b33f1b3e62d78e002bc07e15547bc6	We suggest that, awareness of intention tremor and @PHENOTYPICFEATURE$ in addition to @DISEASE$, peripheral neuropathy and early osteoporosis can be suspicious for CTX and lead diagnosis.	false
+7b778386b398e3a948f5ca04d327b4b473105a8e	We suggest that, awareness of intention tremor and ataxic gait in addition to @DISEASE$, peripheral neuropathy and early @PHENOTYPICFEATURE$ can be suspicious for CTX and lead diagnosis.	false
+3883783f2cd73bf1ba0a5fe0428cf983a479560c	We suggest that, awareness of intention tremor and @PHENOTYPICFEATURE$ in addition to mental retardation, peripheral neuropathy and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	false
+5ff8d444f86999e6af2b3f99f3f307cce1cf014e	We suggest that, awareness of intention tremor and ataxic gait in addition to mental retardation, @PHENOTYPICFEATURE$ and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	false
+976a5d7b9128059fae15e699c98fa76410850bb1	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, @PHENOTYPICFEATURE$ and bilateral cataract was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	has_symptom
+a3bb345a8ae899ee5206376dba7950093a71de3f	A 34-year-old patient demonstrating pyramidal and @PHENOTYPICFEATURE$, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+35d76a6bd9cbd203c58beedf21683b96e9e21bed	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+112bf9f53d51babd435090c6e5b8508bba4dee4f	A 34-year-old patient demonstrating pyramidal and @PHENOTYPICFEATURE$, accompanied by epilepsy, peripheral neuropathy, @DISEASE$ and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+7600ae7f13b5c088daa6fadc3349ed120741e820	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, @PHENOTYPICFEATURE$, @DISEASE$ and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+d5b897082f492c0bfc79ce1cb8ef8e33a5b9c6c0	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, @DISEASE$ and bilateral @PHENOTYPICFEATURE$ was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+bd3d048c926ab9ce5d2a310141696c196332a060	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, @PHENOTYPICFEATURE$, mental retardation and bilateral cataract was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+2c0ec2a5f114dc1b492ca4290fc9d873dc66badc	We present a case of a 30 year old male who presented with @PHENOTYPICFEATURE$ and swelling of ankles, with the a spectrum of @DISEASE$ imaging findings.	has_symptom
+1a03dbcd0d3d6138f028cb809304449f4bfd79d7	By early discovery and subsequent therapy it may be possible to prevent the onset of the detrimental symptoms such as @PHENOTYPICFEATURE$, caused by the accumulation of cholestanol and cholesterol in @DISEASE$ patients.	has_symptom
+c403075ce1821af36cd4ae5b006c54718c07aa59	These variants associate with @PHENOTYPICFEATURE$-attributed renal disease, focal segmental glomerulosclerosis (@DISEASE$), and HIV-associated nephropathy.	has_symptom
+d8b1f57fabc4def05a53cd9996d226ea26589381	These variants associate with @PHENOTYPICFEATURE$-attributed renal disease, @DISEASE$ (FSGS), and HIV-associated nephropathy.	has_symptom
+9916fe22fa0a442fb3f88ce05f6d7b5bbddd01b8	Moderate to severe vascular @PHENOTYPICFEATURE$ changes were more common in biopsies with @DISEASE$ compared to other glomerulopathies.	has_symptom
+88d2940d03aefb04145719fe5d59487860cf7283	Moderate to severe vascular @PHENOTYPICFEATURE$ changes were more common in biopsies with @DISEASE$ compared to other pathologies.	has_symptom
+3c964a68e243e8cc4b3b18c8078cf14a771d56d2	A kidney biopsy showed changes consistent with acute tubular necrosis and resolving preeclampsia superimposed on @DISEASE$ and @PHENOTYPICFEATURE$ kidney disease.	has_symptom
+ec3858021e7f09c191ebde7a071fe7e8851fe6d7	These included patients with minimal change disease, membranous nephropathy, lupus nephritis ISN/RPS classes III/IV/V, @PHENOTYPICFEATURE$ nephrosclerosis, crescentic glomerulonephritis, tubulointerstitial fibrosis, IgA nephropathy, diabetic kidney disease, and @DISEASE$.	has_symptom
+85a81138f2ee32bd121ca525d2c91f670d3ad20c	Pauci-immune GN was the most frequent diagnosis (19%), followed by @DISEASE$ secondary to hypertension (7.6%), @PHENOTYPICFEATURE$ nephrosclerosis (7.1%), IgA nephropathy (7.1%) and membranous nephropathy (7.1%).	has_symptom
+e5ea8149b9ff84cd7574256ae68f3d19b6b5b49f	MYH9 is a podocyte-expressed gene encoding nonmuscle myosin IIA that is associated with idiopathic and human immunodeficiency virus-associated focal segmental glomerulosclerosis (@DISEASE$) and @PHENOTYPICFEATURE$ end-stage renal disease in African Americans.	has_symptom
+27ddceaae44d5b052da563235423c74580d2ff49	MYH9 is a podocyte-expressed gene encoding nonmuscle myosin IIA that is associated with idiopathic and human immunodeficiency virus-associated @DISEASE$ (FSGS) and @PHENOTYPICFEATURE$ end-stage renal disease in African Americans.	has_symptom
+19fb504afa10a024554fcde36b052724bec36ec5	Our data show the clinical and histologic phenotype of TBMN to be diverse: the vast majority of TBMN has chronic microscopic hematuria, frequently associated with @PHENOTYPICFEATURE$ in late middle age; about 15% of TBMN has in addition substantial proteinuria which is associated in the majority of cases with the lesions of focal segmental glomerulosclerosis (@DISEASE$).	has_symptom
+b88429421c08d75fc21abe71ae88005dad27fd15	Our data show the clinical and histologic phenotype of TBMN to be diverse: the vast majority of TBMN has chronic microscopic hematuria, frequently associated with @PHENOTYPICFEATURE$ in late middle age; about 15% of TBMN has in addition substantial proteinuria which is associated in the majority of cases with the lesions of @DISEASE$ (FSGS).	has_symptom
+2e77f30a20e84679f617eee2fe2a5a11484bf356	The strength of the association was weaker than that in @DISEASE$ and @PHENOTYPICFEATURE$ end-stage renal disease.	has_symptom
+0adc6f1bf6d3094c451aff9417491306d9bbf4ed	Three biopsy specimens with @DISEASE$, NOS had @PHENOTYPICFEATURE$ changes and showed TA in several normal and in all ischemic glomeruli.	has_symptom
+0b45421436e9010a4d19034e4364def2ae982dbd	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, @PHENOTYPICFEATURE$, and various malformations.	has_symptom
+f1d58206c3a36c0b0d79529e0068bc0cde7524cf	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, @PHENOTYPICFEATURE$, and various malformations.	has_symptom
+fcfeda7333300ede927f0cb4a0f5ce0e48905d02	Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, @DISEASE$, and various malformations.	false
+5504b2a0d3d008c55f5837b47807c32a7fd372da	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+fdae1c276d7ddb8cc5724fa4266cafae909b558e	Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and @PHENOTYPICFEATURE$, @DISEASE$, and various malformations.	false
+b60c87cd7a11c5de532bd663b697e3ddf7dc27f0	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical facial dysmorphism, growth and @PHENOTYPICFEATURE$, microcephaly, and various malformations.	false
+f01e7e1c7940735e3f7a4e7f19c14b16e640f77e	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and @PHENOTYPICFEATURE$, microcephaly, and various malformations.	false
+98b8be5d6524b0160576d0ae62dc6024861711d5	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+f5b4e4c90f126ae500d79c04ed514bce89968fb3	@DISEASE$ (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, @PHENOTYPICFEATURE$ and limb abnormalities.	has_symptom
+beed8f96bb42953a525ecb059a300690c1c170b9	Cornelia de Lange syndrome (CdLS) is a multiple @DISEASE$/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and @PHENOTYPICFEATURE$.	false
+ad8ce25b9de71cfe0febef1ac200310139dc1780	Cornelia de Lange syndrome (CdLS) is a multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities.	false
+91251933dc8758524c583ccbc5e4851d4c1459fc	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation @DISEASE$, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and @PHENOTYPICFEATURE$.	false
+8d86296bc509cf3b2205091771054f278bd7576d	@DISEASE$ (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and @PHENOTYPICFEATURE$.	false
+faef861536249660ca7560aaf101c69d93df22ca	@DISEASE$ (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities.	false
+cd684db497b89bb746044f5e523bdcfb3f18797c	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ @DISEASE$, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities.	false
+7339f6fd1d36b49acab5f3e62522f94458aaa74e	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ee288de8c60c012b12818d1696d36844d6a4e307	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, @DISEASE$ and limb abnormalities.	false
+9df55a4696e5fa45812f3dce65594025da2c4dee	@DISEASE$ (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, @PHENOTYPICFEATURE$, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations.	has_symptom
+4800da661ec67b5b7e583dd897611b6a31793344	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation @DISEASE$ consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, @PHENOTYPICFEATURE$, developmental delay, and a variety of associated malformations.	false
+bfdd4e33c5513c94debb3996bc91954adc343963	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome consisting of characteristic dysmorphic features, microcephaly, @DISEASE$, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations.	false
+c480b058f8926954a865eea0f197a5bac163762e	@DISEASE$ (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, @PHENOTYPICFEATURE$, developmental delay, and a variety of associated malformations.	false
+9b6e892f0320719a44caa116c03b0bd3c06e8215	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, @DISEASE$, upper limb defects, @PHENOTYPICFEATURE$, developmental delay, and a variety of associated malformations.	false
+de82085257058be09cd70d34f945c945e9f70f16	Cornelia de Lange syndrome (CdLS) is a multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations.	false
+5201276d25e22e43cedcd1a92d421807ffccb197	Cornelia de Lange syndrome (CdLS) is a multiple @DISEASE$/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, @PHENOTYPICFEATURE$, developmental delay, and a variety of associated malformations.	false
+b747a1d34996b1ee51f39948ca25e2838add571c	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ @DISEASE$ consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations.	false
+ca75ca8869e20e9f8757346d25df21ccb5a65e7b	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, @DISEASE$, hypertrichosis, upper limb defects, @PHENOTYPICFEATURE$, developmental delay, and a variety of associated malformations.	false
+18f9e7161d7dcee5550be740feeb7b8e39984920	@DISEASE$ (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations.	false
+99d84947ba3b9d2385012019f5fce5563eef8164	Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome consisting of characteristic dysmorphic features, @DISEASE$, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations.	false
+5288d04f32758d31285eadf85b78440874b53d85	@DISEASE$ (CdLS, also called Brachmann-de Lange syndrome - BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and mental retardation, @PHENOTYPICFEATURE$, and various malformations.	has_symptom
+da4ce276d453280fb2af061c1218314500222e08	@DISEASE$ (CdLS, also called Brachmann-de Lange syndrome - BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and @PHENOTYPICFEATURE$, microcephaly, and various malformations.	false
+46687289c5d03fe41b29e1c33b615a45a819c76c	Cornelia de Lange syndrome (CdLS, also called Brachmann-de Lange syndrome - BdLS) is a multisystem developmental disorder characterized by distinctive facial features, growth and @PHENOTYPICFEATURE$, @DISEASE$, and various malformations.	false
+ab230417445fb39ffb0e4d2b12bf870ac3186bc9	@DISEASE$ is a genetic disease characterized by distinctive facial features, failure to thrive, @PHENOTYPICFEATURE$ and several malformations associated.	has_symptom
+37ac182a816b7e5ce56786259db4fc02250474e4	@DISEASE$ is a genetic disease characterized by distinctive facial features, @PHENOTYPICFEATURE$, microcephaly and several malformations associated.	false
+04b9bedc0beb534f607d00be65d460a25fc94215	Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, @PHENOTYPICFEATURE$, @DISEASE$ and several malformations associated.	false
+4b2b29c62d6798838ce3f1b05c0034cd5d932634	@PHENOTYPICFEATURE$, cerebellar hypoplasia, abnormal cortical development) in patients with @DISEASE$.	has_symptom
+35f8dc258559b660c05eaa75a8a8a8b0ec3bd99b	@DISEASE$, @PHENOTYPICFEATURE$, abnormal cortical development) in patients with Cornelia de Lange Syndrome.	false
+8fbc558190d3292821e5399de912ee75649b819a	microcephaly, @PHENOTYPICFEATURE$, abnormal cortical development) in patients with @DISEASE$.	false
+05c6999d6fa8bb6cb79f0dcf6004230b1ca2581e	@DISEASE$ (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, @PHENOTYPICFEATURE$, and various malformations.	has_symptom
+9cb6ebb076731dc893f1ec3a20dfd9dc94a19ea9	@DISEASE$ (CdLS) is a multisystem developmental disorder characterized by @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+413cd784daedd6f256f58863ad5a3cb3b3a494ee	@DISEASE$ (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and @PHENOTYPICFEATURE$, microcephaly, and various malformations.	false
+df4156727f75d131be606485d1cc501ddee45e29	Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by @PHENOTYPICFEATURE$, growth and mental retardation, @DISEASE$, and various malformations.	false
+d4346f9c28324550b1013ff4560c26001c2ea36c	Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and @PHENOTYPICFEATURE$, @DISEASE$, and various malformations.	false
+0445b8696ba41afa1ae46133d8ecf6644c23cdc5	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	has_symptom
+e25a82265af5de6472fa85284d5c995cc9b32bb4	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+69fb925c49f6bdc0ac00caa6c31aeb8be510d1d4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+795f53474d4a2584dd949b544c08d3d7e80fa755	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d073e4e1273d1c719d1bd9ad7b7c1ba72d02fc6c	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6c0b5253534648cafad296fe0c97f1870dd7d1a9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cfd88b24a9293f70c83dd6dfdb528dbc425b5bb7	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+8ddd3de61688b5b9ac4dd116cd72c0d4df66ebe2	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e03d2e9f036864b184a0b0609bedae3ce668408e	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+38894498d312c83e97b443413ed72eee0fc4af86	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+5e1818eb96b64a9a2fe12e8efac5b09f2242fe4f	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+4f798dcac0cf695c2cdf76111da336bb2d81b6ae	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cb8caa8c097e0c4f6abc09c938a1d0b301246bb9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+bcd0bf01e766ee5738d4df0bdc40b9c3b5676621	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b6c22bee816c12212e67b55f39aac737eefd817e	@DISEASE$ involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as @PHENOTYPICFEATURE$ or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and limb anomalies) and it is associated with a high percentage of mental retardation and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	has_symptom
+32acc73b7b990408d82b2a5228da7a69a4261dab	Cornelia de Lange syndrome involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as microcephaly or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and limb anomalies) and it is associated with a high percentage of @PHENOTYPICFEATURE$ and complications such as digestive tract abnormalities, cardiac defects, and @DISEASE$.	false
+df633f3171a2d07c3c6f6d0649c991b39fd0e092	Cornelia de Lange syndrome involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as microcephaly or @DISEASE$ with synophrys; cutaneous abnormalities such as hirsutism, and limb anomalies) and it is associated with a high percentage of @PHENOTYPICFEATURE$ and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	false
+49a7f1cdd3b581b3b9d86dac4b63ec62ac9f979d	@DISEASE$ involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as microcephaly or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and @PHENOTYPICFEATURE$) and it is associated with a high percentage of mental retardation and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	false
+615598ff02f6f229fa0ab46a570b468b2edffc0d	Cornelia de Lange syndrome involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as microcephaly or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and @PHENOTYPICFEATURE$) and it is associated with a high percentage of mental retardation and complications such as digestive tract abnormalities, cardiac defects, and @DISEASE$.	false
+1ba52b027d8aa5dbaba5975878ca26a8e56c52cd	Cornelia de Lange syndrome involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as microcephaly or @DISEASE$ with synophrys; cutaneous abnormalities such as hirsutism, and @PHENOTYPICFEATURE$) and it is associated with a high percentage of mental retardation and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	false
+1c644218dd05c910833fcab7444cb900b4dd0544	Cornelia de Lange syndrome involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as @DISEASE$ or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and @PHENOTYPICFEATURE$) and it is associated with a high percentage of mental retardation and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	false
+d7e0ec3794d29698aa9ced8ca60c018a9fea9549	@DISEASE$ involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as microcephaly or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and limb anomalies) and it is associated with a high percentage of @PHENOTYPICFEATURE$ and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	false
+4cceefbe3801a47438e6b7c9df96ea190e353ac0	Cornelia de Lange syndrome involves multiple malformations with particular phenotypic features (craniofacial abnormalities such as @DISEASE$ or hypertrichosis with synophrys; cutaneous abnormalities such as hirsutism, and limb anomalies) and it is associated with a high percentage of @PHENOTYPICFEATURE$ and complications such as digestive tract abnormalities, cardiac defects, and endocrine disorders.	false
+d9192505f1ca53ef801179e79683400364ed3882	We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, @PHENOTYPICFEATURE$, minor facial anomalies reminiscent of a mild @DISEASE$ (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics.	has_symptom
+d6fb8224c1254acaaf559af9b8e4fbbebc99c9ab	We report on 4 individuals (3 sibs and their father) with a syndrome of @PHENOTYPICFEATURE$, microcephaly, minor facial anomalies reminiscent of a mild @DISEASE$ (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics.	false
+8d96986ed443e8d2e24ee2fedfbe4451ae700f0f	We report on 4 individuals (3 sibs and their father) with a syndrome of @PHENOTYPICFEATURE$, microcephaly, minor @DISEASE$ anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics.	false
+f3c02c3d54c3301004743e7f5244316651334a3c	We report on 4 individuals (3 sibs and their father) with a syndrome of @PHENOTYPICFEATURE$, @DISEASE$, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics.	false
+2b5ec8a5d0d1c5224b45a78c007a1f2733f95cf9	@DISEASE$ is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @PHENOTYPICFEATURE$, mixed hearing loss, and cleft lip and palate.	has_symptom
+2f97d42e8fedd82bcbe7d7182d66ef1041148e5b	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and @DISEASE$.	false
+0dfa3ece11063994df7ccca72e41770e56a04834	Myhre syndrome is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, @DISEASE$, and cleft lip and palate.	false
+4432fb4c11b899fa000f77ee106bd55546d5864e	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, @PHENOTYPICFEATURE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @DISEASE$, mixed hearing loss, and cleft lip and palate.	false
+78b01112125afb1faecf159d8d33bc675411aa27	@DISEASE$ is a rare disorder characterized by pre- and postnatal short stature, @PHENOTYPICFEATURE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+7dfb109d8416eccf352c55354a872f8eb3ac94f3	@DISEASE$ is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+af2472d618b6f0739fe0128ae8f518eac5168d8f	Myhre syndrome is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and @DISEASE$.	false
+6959630083af102efa455694e47708b19e44eb3e	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, @PHENOTYPICFEATURE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and @DISEASE$.	false
+ebd6dd73ec355da74c2b4709a482221ce0a0a363	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, @DISEASE$, and cleft lip and palate.	false
+434f02a5a56447ab8d3f8ddf2ab5bdb8f2dea76f	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, @PHENOTYPICFEATURE$, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, @DISEASE$, and cleft lip and palate.	false
+498abd47fd636cedfc191f2fe4fd636a0a218b83	Myhre syndrome is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @DISEASE$, mixed hearing loss, and cleft lip and palate.	false
+0c6038d0ecdec6c6d7e85a9e0616d85518d395ca	Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, @PHENOTYPICFEATURE$ (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, @DISEASE$, mixed hearing loss, and cleft lip and palate.	false
+6b797576d7edf4649ae1ed3d636960e6c9eb321e	@DISEASE$ is a rare disorder characterized by pre- and postnatal @PHENOTYPICFEATURE$, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate.	false
+fc44b72bc11540d7c57105ec3125782555a46a62	@DISEASE$ presenting with hypokalemia, @PHENOTYPICFEATURE$ and renal failure.	has_symptom
+d103e0044a1fbb37905f4a05e08b0bdb74270822	@DISEASE$ presenting with hypokalemia, hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+8525b179753dcdaced70fc8e5d7c590036d7a6be	Wilson's disease presenting with hypokalemia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a6a2e7060cba5a6e90c6d73724edbba1b40dcc7b	Wilson's disease presenting with @DISEASE$, hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+a998a5bc1573f3bb76376981f4cd3e35b909b206	[A case of @DISEASE$ associated with @PHENOTYPICFEATURE$ and amenorrhea].	has_symptom
+8f4200c75525add76aa09df024c12acfdfca111d	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like spinocerebellar degenerative syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, @DISEASE$, metachromatic leukodystrophy, adrenoleukodystrophy, @PHENOTYPICFEATURE$, sarcoidosis, and other CNS inflammatory disorders.	has_symptom
+578912d80b07b5d18554c739c24a84df02b21fc0	Classic frontal-subcortical dementias include Huntington chorea, @DISEASE$ dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+7d53de3445bc2a94237753f616fecdcf8fcb86e6	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease @DISEASE$, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+14533ab92ba8bd63b855cb616272b417fe2dbd53	Classic frontal-subcortical dementias include @DISEASE$, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+4f8a433edbc04c8502353ddbe1aa6eda3be559fa	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, @DISEASE$, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+2a063fa35593af30fa7509527d3b2b5a310d74dd	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, @DISEASE$ multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+3c81b64ee21e32d18efb98b380a6242a670bc3dd	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration @DISEASE$, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+380ec664d30a36f811a4703c1eeaa22e7b327c34	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, @DISEASE$, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+7580c0afebc218eeff29e2138c8fb7f775275525	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical @DISEASE$, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+7225d36131a1e1e3b97d3bef9676217fafc59d93	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, @DISEASE$, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+0c94c59bcbae4d1204356945f685ace63850dc86	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, @DISEASE$, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+11b6cd9c1210d120b6ec957455a14ba57592bfcf	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS @DISEASE$.	false
+f724c24b195f21bfc8647217abf3e87a936e32ae	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, @DISEASE$, sarcoidosis, and other CNS inflammatory disorders.	false
+2744a1443e7cc27898324fda7d6fce6482b1575a	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ @DISEASE$, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+1c861e7976df85a5d387791483452c755f084dc2	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome @DISEASE$ complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+3ce034afd54f315e7f4e2d4a8990a5e394989bec	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, @DISEASE$, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+7fce9135399d0d46fbf86b74daca773ee0fcda1a	@DISEASE$ (CS) is a rare disorder characterized by severe brain atrophy, white matter (WM) hypomyelination and @PHENOTYPICFEATURE$.	has_symptom
+afc76553bb6a9af035db7ba5f7693a6dfc0afee2	Cockayne syndrome (CS) is a rare disorder characterized by severe @PHENOTYPICFEATURE$, white matter (WM) hypomyelination and @DISEASE$.	false
+b25fb18b376cbcc3869cc0a56ba2e79d1d58642f	@DISEASE$ (CS) is a rare disorder characterized by severe @PHENOTYPICFEATURE$, white matter (WM) hypomyelination and basal ganglia calcifications.	false
+15e581ca3f318fed2c5655081834495c43b75a3f	Inherited and neurodegenerative diseases cause symmetrical, bilateral @PHENOTYPICFEATURE$ which is not related to metabolic disorders (blood calcium level and other), those are: @DISEASE$, tuberous sclerosis, Fahr's syndrome, Down syndrome and other.	has_symptom
+ecfb2e16cab1da5c0b78ca05dc7b924af335c6b8	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+767c3e38a2af5bd99373bea0e19690ac6d775898	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+7a6d5d218e5cf058ee68fcac902913f8953d824f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	false
+e4704070bfc4aa45f55b56aa1021d7045165a877	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+207aa4412232a497d23e03dd9cbefab4ec78451f	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+313ce7c41bf6c46ab08b5fedfb2a0ec71f5e051d	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+febfd16d23a28d5f7479b8758b6fd628bd765c4f	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, @PHENOTYPICFEATURE$, mental retardation, and movement disorder.	false
+f73ba84e87ae6969be46e1437575c9b104b823c1	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, @DISEASE$, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and movement disorder.	false
+5701b3ec780635c39330847d6fcc331905476165	We have previously reported 2 cases of @DISEASE$ (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, @PHENOTYPICFEATURE$, and movement disorder.	false
+0b7dfdd0dcbd9a186cb07b07e2b88f7b6b6f0ac7	We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with @PHENOTYPICFEATURE$, seizures, mental retardation, and @DISEASE$.	false
+7d196c4d722e0970951f0a4591f3ac5c47b620e9	Classic phenylketonuria (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ in untreated individuals and mild neurocognitive abnormalities in some early treated adults.	has_symptom
+0f2872d954ff79a7df92369809ab666a7eb07952	@DISEASE$ (PKU) is characterized by @PHENOTYPICFEATURE$ in untreated individuals and mild neurocognitive abnormalities in some early treated adults.	has_symptom
+7d693fe5a88c79ea3377cda1bbf4f4b4df85ffd6	Phenylketonuria (@DISEASE$) at one time was seen only as a rare inborn error of metabolism causing @PHENOTYPICFEATURE$.	has_symptom
+8df0f0beaf908969255e2f821d6da203406c4e88	@DISEASE$ (PKU) at one time was seen only as a rare inborn error of metabolism causing @PHENOTYPICFEATURE$.	has_symptom
+e399ef3a849711cda75a97ca510389a8e5532400	Home placement of a @DISEASE$ child with @PHENOTYPICFEATURE$.	has_symptom
+77dd42c1467ac68071afc9224159113b01941dbc	Phenylketonuria (@DISEASE$) is a treat-able and prevent-able inborn error of metabolism which leads to @PHENOTYPICFEATURE$ and neurobehavioral abnormalities.	has_symptom
+21231cac544ab2dc6a45fa95fd971cc27bff4b2d	@DISEASE$ (PKU) is a treat-able and prevent-able inborn error of metabolism which leads to @PHENOTYPICFEATURE$ and neurobehavioral abnormalities.	has_symptom
+a85baec3a01a3b12dffaa9921051fe385e4856df	@DISEASE$: a family with @PHENOTYPICFEATURE$ siblings.	has_symptom
+62f3bfc0664569f1965262dc1ea5837aca2d289d	Untreated @DISEASE$ patients present @PHENOTYPICFEATURE$ whose pathophysiology is not completely estabilished.	has_symptom
+acd335bc57dd09271448a73c61319256de512ccc	Untreated @DISEASE$ is characterized by microcephaly, epilepsy, @PHENOTYPICFEATURE$ and, in some cases, progressive supranuclear motor disturbances.	has_symptom
+67ca73be51becfde1a1ddbc4bf4902a4da97eb6b	Untreated phenylketonuria is characterized by @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and, in some cases, progressive supranuclear motor disturbances.	false
+5f452b2816c1a320559f2065a70aab0af653e0b5	Untreated @DISEASE$ is characterized by @PHENOTYPICFEATURE$, epilepsy, severe mental retardation and, in some cases, progressive supranuclear motor disturbances.	false
+3ddbefb04441a526bf2bc3c30426cf809980c7fe	@PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+893d9ed6c62fadd14c5b2966b93b5b8fc9c21a7b	Untreated, @DISEASE$ causes @PHENOTYPICFEATURE$, epilepsy and behavioral problems.	has_symptom
+2efaec62bae35fda07818843a1b71b6202b2e615	PAH deficiency results in hyperphenylalaninemia, leading to @PHENOTYPICFEATURE$ in the classical form of the disease, phenylketonuria (@DISEASE$).	has_symptom
+473c54baadc7e60f3a10bb3de1db192846c847d0	PAH deficiency results in hyperphenylalaninemia, leading to @PHENOTYPICFEATURE$ in the classical form of the disease, @DISEASE$ (PKU).	has_symptom
+9d9ab751a83467f17fad3ff250926cf132d693da	Multimodal treatment of @DISEASE$ can be nowadays considered the method of choice in the treatment of @PHENOTYPICFEATURE$ in this region.	has_symptom
+62281d9a4d2c14427b9ce1f5ddf87fbabde89057	Nijmegen breakage syndrome (@DISEASE$) is an autosomal recessive disorder, characterized by progressive microcephaly, growth retardation, immunodeficiency, and pre-disposition to @PHENOTYPICFEATURE$ formation.	has_symptom
+72c4cb8482495d5f61305bc7ad15e3a549b25868	@DISEASE$ (NBS) is an autosomal recessive disorder, characterized by progressive microcephaly, growth retardation, immunodeficiency, and pre-disposition to @PHENOTYPICFEATURE$ formation.	has_symptom
+d808ca94c8e7d4aea5b1ea8e09d588d24e9e3b4b	Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by progressive @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, and pre-disposition to tumor formation.	false
+cde31c7804e4e0aa49593f16777e95612179bee0	Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by progressive microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and pre-disposition to tumor formation.	false
+736593b26461506b0c694e5af9535fb0e4085287	Nijmegen breakage syndrome (@DISEASE$) is an autosomal recessive disorder, characterized by progressive microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and pre-disposition to tumor formation.	false
+431280ec51bd1fcf23e86b5ecf864d6182f1ca51	Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by progressive microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and pre-disposition to @DISEASE$ formation.	false
+ba8d10d10dba63ad617ff764a9ea0483b3d2d119	@DISEASE$ (NBS) is an autosomal recessive disorder, characterized by progressive microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and pre-disposition to tumor formation.	false
+00abd38529c9b2b2a12bf299f200df7fd0741304	A-T and @DISEASE$ both show a predisposition to lymphoid @PHENOTYPICFEATURE$.	has_symptom
+55f37b2ce1f4aac1e2be233592fbe7b1418b1e90	This led us to investigate whether @DISEASE$ acts as @PHENOTYPICFEATURE$ suppressor gene in the development of non-Hodgkin lymphomas.	has_symptom
+e1be4f159f98f7acdba58ba75f82dbc968ded1fc	@DISEASE$ is characterized by genomic instability and a predisposition for lymphoma and solid @PHENOTYPICFEATURE$.	has_symptom
+c4fb0aeb88619345c45893cc062000faa4d089e2	NBN gene mutations cause increased @PHENOTYPICFEATURE$ risk in @DISEASE$ (NBS) homozygotes as well as in NBN heterozygotes.	has_symptom
+b8e71257cf3adada365f8b175eae3b7ea459a08a	NBN gene mutations cause increased @PHENOTYPICFEATURE$ risk in Nijmegen breakage syndrome (@DISEASE$) homozygotes as well as in NBN heterozygotes.	has_symptom
+ac5153f63f4732fb56d16a2b791002e97cd3e4d2	Here we introduce network-based stratification (@DISEASE$), a method to integrate somatic @PHENOTYPICFEATURE$ genomes with gene networks.	has_symptom
+6375386b04ecd2600f415d780b37d1a12d85aeb0	Haploinsufficiency of the @DISEASE$ 1 gene increases             mammary @PHENOTYPICFEATURE$ latency and metastasis.	has_symptom
+06d2c5df7d4d11e8a74ec5180435f27369f1756e	For each tissue, @DISEASE$ identifies subtypes that are predictive of clinical outcomes such as patient survival, response to therapy or @PHENOTYPICFEATURE$ histology.	has_symptom
+6adecfbd9737d4ee15a87ebb35362013013a6970	Tumours of the biliary system (@DISEASE$) account for as many as 16% of all @PHENOTYPICFEATURE$ of the GIT.	has_symptom
+84ed72766c70f5eeaf89f0ff4a32a561f3fcc61d	One patient presented with classic features of @DISEASE$ with failure to thrive and rickets, while the other had polyuria, @PHENOTYPICFEATURE$ and rickets.	has_symptom
+9912cfebb38edcb594c9cae19388a01709953aee	One patient presented with classic features of Fanconi's syndrome with @PHENOTYPICFEATURE$ and rickets, while the other had polyuria, @DISEASE$ and rickets.	false
+9d585c103d8c013a2b98210ba8d31e1e3d528fb3	One patient presented with classic features of @DISEASE$ with @PHENOTYPICFEATURE$ and rickets, while the other had polyuria, growth failure and rickets.	false
+a5698dd0ef243988f49b813ce92248e9c372829d	Renal tubular @DISEASE$ occurs in infancy, followed by rickets, @PHENOTYPICFEATURE$, photophobia, and renal failure, which requires renal transplantation at approximately 10 yr of age.	has_symptom
+7b91bd69ac187c48c053b2e0aea7e0b509a47770	Renal tubular Fanconi syndrome occurs in infancy, followed by rickets, @DISEASE$, photophobia, and @PHENOTYPICFEATURE$, which requires renal transplantation at approximately 10 yr of age.	false
+393d7638b228ec75c4e741299b35cb38e1d09c73	Renal tubular @DISEASE$ occurs in infancy, followed by rickets, growth retardation, photophobia, and @PHENOTYPICFEATURE$, which requires renal transplantation at approximately 10 yr of age.	false
+be6cd0cc21234bad8b54901fa48f099ee1de5f5e	The clinical manifestations include renal tubular @DISEASE$ in the 1st year of life, with hypophosphatemic rickets, hypokalemia, polyuria, dehydration and acidosis, @PHENOTYPICFEATURE$, hypothyroidism, photophobia, renal glomerular deterioration by 10 years of age, and late complications such as myopathy, pancreatic insufficiency, and retinal blindnesss.	has_symptom
+0eb7494bbbc1fb436d14697370a5ad875ee09e6f	We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, @DISEASE$ (tubulopathy), microcephaly, mental and @PHENOTYPICFEATURE$.	has_symptom
+7d7d57f57f3c9aabe5ed6c15f0ce146c340cf9a0	We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with @PHENOTYPICFEATURE$, Fanconi syndrome (tubulopathy), microcephaly, mental and @DISEASE$.	false
+8a95772abafea57099a0c6f547b0a82b2636cf52	We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with @PHENOTYPICFEATURE$, @DISEASE$ (tubulopathy), microcephaly, mental and growth retardation.	false
+e1bfedd56ec465740382f388f61248b694fb5426	We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), @PHENOTYPICFEATURE$, mental and @DISEASE$.	false
+4121942e535e445af20e1416ee2c4f1e1fe10731	We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, @DISEASE$ (tubulopathy), @PHENOTYPICFEATURE$, mental and growth retardation.	false
+e90664ae1461e3d8ca7f889fac2197375d468ff7	To compare the difference between primary proximal renal tubular acidosis (PRTA) and @DISEASE$ (FS), and to find out possible risk factors for @PHENOTYPICFEATURE$, we studied the long-term growth, clinical, laboratory, and radiological findings associated with the treatment of six children with primary FS and 15 children with PRTA.	has_symptom
+2172f34058dda7b1050aab5ec698de13f6d2f344	Clinical manifestations include renal tubular @DISEASE$ in the first year of life, rickets, hypokalaemia, polyuria, dehydration and acidosis, @PHENOTYPICFEATURE$, hypothyroidism, photophobia and renal glomerular deterioration.	has_symptom
+da60063685733ab2fe8d709bef859390bd971985	@DISEASE$ is an inborn error of metabolism characterized by @PHENOTYPICFEATURE$, petechiae chronic diarrhea and acrocyanosis.	has_symptom
+d8210df9eb8f0cc070f089c61bebf34340e2fe36	@DISEASE$ (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, @PHENOTYPICFEATURE$, relapsing petechiae and acrocyanosis.	has_symptom
+d11ae93c47e67ac9a55164d5ee1357e231358796	Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes the severe metabolic disorder @DISEASE$, which is characterized by early-onset @PHENOTYPICFEATURE$ and defective cytochrome C oxidase because of hydrogen sulfide accumulation.	has_symptom
+f3d51a4eb6c1897112d58d2b352d6ff3dd082423	@DISEASE$ is an autosomal recessive, invariably fatal disorder characterized by early-onset @PHENOTYPICFEATURE$, microangiopathy, chronic diarrhea, defective cytochrome c oxidase (COX) in muscle and brain, high concentrations of C4 and C5 acylcarnitines in blood and high excretion of ethylmalonic acid in urine.	has_symptom
+94d14079655a2d3951cff258c36fd23694f8aa06	@DISEASE$ (EE) is a rare autosomal recessive disorder characterized by early onset @PHENOTYPICFEATURE$, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.	has_symptom
+94d14079655a2d3951cff258c36fd23694f8aa06	@DISEASE$ (EE) is a rare autosomal recessive disorder characterized by early onset @PHENOTYPICFEATURE$, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain.	has_symptom
+8696537e42e0d58380228ca4a3962ae291bc2490	1) Mutations in myotilin cause MFM; 2) exon 2 of MYOT is a hotspot for mutations; 3) @PHENOTYPICFEATURE$, cardiomyopathy, and distal weakness greater than proximal weakness are part of the spectrum of myotilinopathy; 4) not all cases of @DISEASE$ have a limb-girdle phenotype; and 5) the molecular basis of the majority of MFM cases remains to be discovered.	has_symptom
+7dce0f82975a176c714c013e730c91e95c16f01c	Neuroleptic malignant syndrome (@DISEASE$) is a rare but potentially lethal form of drug-induced hyperthermia characterised by mental status changes, muscle rigidity, hyperthermia and @PHENOTYPICFEATURE$.	has_symptom
+33bd40fd8382f08930f168f6bd1e4016580c326e	@DISEASE$ (NMS) is a rare but potentially lethal form of drug-induced hyperthermia characterised by mental status changes, muscle rigidity, hyperthermia and @PHENOTYPICFEATURE$.	has_symptom
+4c88a6b9ffa9199aad548615b9c84e3c206b4ae5	@DISEASE$ (NMS) is a rare but potentially lethal form of drug-induced hyperthermia characterised by mental status changes, muscle rigidity, @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+058e8d01c050a303882a5c6b2d97973c7695b51c	Neuroleptic malignant syndrome (@DISEASE$) is a rare but potentially lethal form of drug-induced hyperthermia characterised by mental status changes, muscle rigidity, @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+5d124d610f6a640d8af547ce7f9d45359d52679a	Neuroleptic malignant syndrome (NMS) is a rare but potentially lethal form of drug-induced hyperthermia characterised by mental status changes, muscle rigidity, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c4c2dbda12c6ccf3b0d46c8d5da1cc7af7eebceb	Neuroleptic malignant syndrome (@DISEASE$) is a rare complication of neuroleptic therapy characterized by catatonic behavior, generalized muscular rigidity, hyperthermia and @PHENOTYPICFEATURE$.	has_symptom
+f1160dcd90b131cdbd78c3a8465a115d0f0c511a	@DISEASE$ (NMS) is a rare complication of neuroleptic therapy characterized by catatonic behavior, generalized muscular rigidity, hyperthermia and @PHENOTYPICFEATURE$.	has_symptom
+ba5151d703d2d552b2c7ad7a953fda52eab27816	Neuroleptic malignant syndrome (NMS) is a rare complication of neuroleptic therapy characterized by catatonic behavior, generalized muscular rigidity, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+21da426407888157f23c84dd203927873ad59e7b	Neuroleptic malignant syndrome (@DISEASE$) is a rare complication of neuroleptic therapy characterized by catatonic behavior, generalized muscular rigidity, @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+423c3361bc230a97181e24f00257c343a5f3d3d3	@DISEASE$ (NMS) is a rare complication of neuroleptic therapy characterized by catatonic behavior, generalized muscular rigidity, @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+177f985023b898330a1e784753ca4db10b9a0f35	@PHENOTYPICFEATURE$ and non-motor symptoms (@DISEASE$) in Parkinson's disease (PD) are frequent, disabling and reduce quality of life of patient.	has_symptom
+7d9f2bcf057188cc24b4d21a555cf454f3fa4054	Neuroleptic malignant syndrome (@DISEASE$), an idiosyncratic reaction comprising muscular rigidity, altered level of consciousness, and @PHENOTYPICFEATURE$, is a rare but serious medical condition.	has_symptom
+666431584bd67ad73f9915bbc539505c8586588c	@DISEASE$ (NMS), an idiosyncratic reaction comprising muscular rigidity, altered level of consciousness, and @PHENOTYPICFEATURE$, is a rare but serious medical condition.	has_symptom
+eb6a18109d8bb5b8416936e37882798733abd9a3	Clinical features are similar to that of neuroleptic malignant syndrome (@DISEASE$) like hyperthermia, @PHENOTYPICFEATURE$, altered sensorium, muscle rigidity; but instead of history of neuroleptic use, there is history of withdrawal of dopaminergic drugs.	has_symptom
+f19ec418b45c7d775683f63041ba0ce8ff4ff5df	Clinical features are similar to that of @DISEASE$ (NMS) like hyperthermia, @PHENOTYPICFEATURE$, altered sensorium, muscle rigidity; but instead of history of neuroleptic use, there is history of withdrawal of dopaminergic drugs.	has_symptom
+963395cdf434e3922983888909d83f040407af72	Clinical features are similar to that of @DISEASE$ (NMS) like @PHENOTYPICFEATURE$, autonomic dysfunction, altered sensorium, muscle rigidity; but instead of history of neuroleptic use, there is history of withdrawal of dopaminergic drugs.	false
+2df373567368e16d4c826c04b20498a19a8857b7	Clinical features are similar to that of neuroleptic malignant syndrome (@DISEASE$) like @PHENOTYPICFEATURE$, autonomic dysfunction, altered sensorium, muscle rigidity; but instead of history of neuroleptic use, there is history of withdrawal of dopaminergic drugs.	false
+1b8c65890b3612c037dd974dac859451f3b7d34c	Clinical features are similar to that of neuroleptic malignant syndrome (NMS) like @PHENOTYPICFEATURE$, @DISEASE$, altered sensorium, muscle rigidity; but instead of history of neuroleptic use, there is history of withdrawal of dopaminergic drugs.	false
+9f822052ecea28c8a4a054e9d1739b196f16fd48	@DISEASE$ and early @PHENOTYPICFEATURE$.	has_symptom
+5882b9baf0aba92111a6edb1350436b7aefda2ae	@DISEASE$ is an uncommon but dangerous complication of antipsychotic drugs, characterized by clinical symptoms that include hyperthermia, severe muscle rigidity, @PHENOTYPICFEATURE$, and altered mental state.	has_symptom
+75e2ca6490f8c750b58d0f46d60563c2260a2919	In this chapter, the current data addressing the treatment of major @DISEASE$ such as sleep, cognitive and @PHENOTYPICFEATURE$, and depression and anxiety are described.	has_symptom
+f2d9bb7b6e12cee36bdd80a07e03a241c38b1101	@DISEASE$ (NMS), characterized by catatonic behavior, generalized muscular rigidity, hyperthermia and @PHENOTYPICFEATURE$, can suddenly arise in patients treated with neuroleptic agents and carries a high mortality rate even today.	has_symptom
+d67ecdc18f9e06eb59589a122a421857b72d42a4	Neuroleptic malignant syndrome (@DISEASE$), characterized by catatonic behavior, generalized muscular rigidity, hyperthermia and @PHENOTYPICFEATURE$, can suddenly arise in patients treated with neuroleptic agents and carries a high mortality rate even today.	has_symptom
+28bb3a2ed3fb3031790058f47c8f7270f59aef58	@DISEASE$ (NMS), characterized by catatonic behavior, generalized muscular rigidity, @PHENOTYPICFEATURE$ and autonomic dysfunction, can suddenly arise in patients treated with neuroleptic agents and carries a high mortality rate even today.	false
+0de8350a4c8b6c71534acea328c492ea16324ab2	Neuroleptic malignant syndrome (@DISEASE$), characterized by catatonic behavior, generalized muscular rigidity, @PHENOTYPICFEATURE$ and autonomic dysfunction, can suddenly arise in patients treated with neuroleptic agents and carries a high mortality rate even today.	false
+8c4d32f75cfc4bf950054aba19dc137a12079cec	Neuroleptic malignant syndrome (NMS), characterized by catatonic behavior, generalized muscular rigidity, @PHENOTYPICFEATURE$ and @DISEASE$, can suddenly arise in patients treated with neuroleptic agents and carries a high mortality rate even today.	false
+4d1f15b475736ce29a15a546f0f7d19e6b0c94c9	@DISEASE$ is a potentially lethal side effect of neuroleptic drugs, characterized by fever, muscle rigidity, @PHENOTYPICFEATURE$, and altered consciousness.	has_symptom
+e104560450be9e20d12778a301f6faf00e4f6045	@DISEASE$ is a potentially lethal side effect of neuroleptic drugs, characterized by @PHENOTYPICFEATURE$, muscle rigidity, autonomic dysfunction, and altered consciousness.	false
+67f18c8340674f23eb1ac2d98181bc7ee50ecb10	Neuroleptic malignant syndrome is a potentially lethal side effect of neuroleptic drugs, characterized by @PHENOTYPICFEATURE$, muscle rigidity, @DISEASE$, and altered consciousness.	false
+6a515b3c3a58eef1f023443dddff3b401e73378f	Neurodegenerative diseases that afflict nervous system are characterized by progressive nervous system dysfunction and associated with the one-set of many diseases like Segawa's syndrome (recessive form), autosomal recessive L-@DISEASE$, L-dopa non-responsive dystonia or progressive early-onset @PHENOTYPICFEATURE$ and recessive L-dopa-responsive parkinsonism.	has_symptom
+dd3755707ce0fa894d59d626e0c55f3c94cab2ca	A different initial diagnosis has been made in each case, these being @DISEASE$, severe hepatitis with renal failure, toxoplasma @PHENOTYPICFEATURE$, extrahepatic obstruction, sclerosing cholangitis, and liver abscess.	has_symptom
+cbb308deb7d8cd0060e2bea4e4c9de4dcc29120a	A different initial diagnosis has been made in each case, these being fulminant hepatic failure, severe hepatitis with @PHENOTYPICFEATURE$, toxoplasma @DISEASE$, extrahepatic obstruction, sclerosing cholangitis, and liver abscess.	false
+a0470a9e7a3ab1f6d6b23c9e61d73ce8a8e1789d	A different initial diagnosis has been made in each case, these being @DISEASE$, severe hepatitis with @PHENOTYPICFEATURE$, toxoplasma hepatitis, extrahepatic obstruction, sclerosing cholangitis, and liver abscess.	false
+6c69fe0e29ca5cfbd0137e5d109b89746f281166	A different initial diagnosis has been made in each case, these being fulminant hepatic failure, severe @DISEASE$ with @PHENOTYPICFEATURE$, toxoplasma hepatitis, extrahepatic obstruction, sclerosing cholangitis, and liver abscess.	false
+eeb464194a186daa6f9f7d64d91d256150717e71	Many idiosyncratic non-steroidal anti-inflammatory drugs (NSAIDs) cause GI, liver and bone marrow toxicity in some patients which results in GI bleeding/ulceration/@DISEASE$/@PHENOTYPICFEATURE$ or agranulocytosis/aplastic anemia.	has_symptom
+38d4b5b1ae27a2719310228de64099c31b9a59c3	Many idiosyncratic non-steroidal anti-inflammatory drugs (NSAIDs) cause GI, liver and bone marrow toxicity in some patients which results in GI bleeding/ulceration/fulminant hepatic failure/hepatitis or @PHENOTYPICFEATURE$/@DISEASE$.	false
+81735a08170a16a9df574fba506fa5a95d84c294	Many idiosyncratic non-steroidal anti-inflammatory drugs (NSAIDs) cause GI, liver and bone marrow toxicity in some patients which results in GI bleeding/ulceration/@DISEASE$/hepatitis or @PHENOTYPICFEATURE$/aplastic anemia.	false
+dc2e056ac4e7bec65c5e3049d93da05cac148c8a	Many idiosyncratic non-steroidal anti-inflammatory drugs (NSAIDs) cause GI, liver and bone marrow toxicity in some patients which results in GI bleeding/ulceration/fulminant hepatic failure/@DISEASE$ or @PHENOTYPICFEATURE$/aplastic anemia.	false
+5e31fb5a0c05041e65e05aeddf13ae8065fd3783	Four HNF1A (MODY3) and eight HNF1B mutations [@PHENOTYPICFEATURE$ and diabetes (@DISEASE$)] were identified.	has_symptom
+0ea98b549d9fa4ef511bda46b2f600c5d462b16a	The @PHENOTYPICFEATURE$ and diabetes (@DISEASE$) syndrome in a child with deletion of the hepatocyte nuclear factor-1? gene.	has_symptom
+3ea65bb1c78f45f564457d93ff151042da6e1b96	This finding is consistent with the diagnosis of @PHENOTYPICFEATURE$ and diabetes (@DISEASE$) syndrome.	has_symptom
+c0dbd6d278c16c04ecb4209f6609eb8f49e5f0fb	Well-known microdeletion or microduplication syndromes including @PHENOTYPICFEATURE$ and diabetes (@DISEASE$) syndrome and Williams-Beuren syndrome (WBS) were identified in three cases.	has_symptom
+a28e12390a2ca973fba8b1cfa6069e24512d3551	Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or @PHENOTYPICFEATURE$ and diabetes (@DISEASE$).	has_symptom
+866196bd87a734c65abccc481bea972f2170fce8	These patients often presented with @PHENOTYPICFEATURE$ and renal function decline that preceded the diabetes, hence it was initially referred to as @DISEASE$.	has_symptom
+e629020e5f362f9d5cb8d6b3cf01f8b32df0e00a	Only 26% of families met diagnostic criteria for maturity-onset diabetes of the young (MODY) but 39% had @PHENOTYPICFEATURE$ and diabetes (@DISEASE$).	has_symptom
+d1b7677aba2d7b2bd06f54c92842f2dbfc3665c7	Mutations in the hepatocyte nuclear factor-1 beta ( HNF-1 beta) gene result in disorders of renal development, typically involving @PHENOTYPICFEATURE$ and early-onset diabetes (the @DISEASE$/ MODY5).	has_symptom
+bb4b4d1bcead019bdb25391124715fb3e2a7be90	The most common phenotype is @PHENOTYPICFEATURE$, which is frequently associated with early-onset diabetes in the renal cysts and diabetes (@DISEASE$) syndrome.	has_symptom
+de30e62fefe41c2d759e7387d51f494e48a6f7e7	The most common phenotype is renal cysts, which is frequently associated with early-onset diabetes in the @PHENOTYPICFEATURE$ and diabetes (@DISEASE$) syndrome.	has_symptom
+4a81e0515e605d526162e7d1f9d7e33fe16e8151	HNF1B mutations most frequently cause developmental renal disease (particularly @PHENOTYPICFEATURE$) but may also cause MODY in isolation or may cause the @DISEASE$ (RCAD syndrome).	has_symptom
+165b5a9fc27abe0a89f2fa9f27f03f6191a9d6ab	HNF1B mutations most frequently cause developmental renal disease (particularly @PHENOTYPICFEATURE$) but may also cause MODY in isolation or may cause the renal cysts and diabetes syndrome (@DISEASE$).	has_symptom
+1ed3d3c6fef2dd70709aeba8a765e62b704554cc	Three children, 5 and 9 months old respectively with @DISEASE$, were studied with CT and MR. the children presented with spasticity and signs of peripheral neuropathy, @PHENOTYPICFEATURE$ and no interaction with the environment.	has_symptom
+bd74aa9de04301adb3d92375f86efa56d63090e0	Three children, 5 and 9 months old respectively with @DISEASE$, were studied with CT and MR. the children presented with @PHENOTYPICFEATURE$ and signs of peripheral neuropathy, blindness and no interaction with the environment.	false
+3debbbbc6a20888c00da0832f70826a8b14a5c7d	Three children, 5 and 9 months old respectively with Krabbe disease, were studied with CT and MR. the children presented with @PHENOTYPICFEATURE$ and signs of peripheral neuropathy, @DISEASE$ and no interaction with the environment.	false
+69bb39c76c27448eebb87b21cd5a219cb6947a14	Three children, 5 and 9 months old respectively with @DISEASE$, were studied with CT and MR. the children presented with spasticity and signs of @PHENOTYPICFEATURE$, blindness and no interaction with the environment.	false
+39a717f33aa437257f030c3523a5277f9b84ecf4	Three children, 5 and 9 months old respectively with Krabbe disease, were studied with CT and MR. the children presented with spasticity and signs of @PHENOTYPICFEATURE$, @DISEASE$ and no interaction with the environment.	false
+bcdd57d42397435dea4d422bb9c13c58a0a91cdc	Another is uromodulin (UMOD), which is the key protein for the pathogenesis of @DISEASE$ that is characterized by early onset of hyperuricemia and @PHENOTYPICFEATURE$.	has_symptom
+ac207d0f04088d2a8dc2daf898e08e574ed17a97	Another is uromodulin (UMOD), which is the key protein for the pathogenesis of @DISEASE$ that is characterized by early onset of @PHENOTYPICFEATURE$ and renal failure.	false
+86ead519ca1ab1535e99c807157979584c489c7f	Another is uromodulin (UMOD), which is the key protein for the pathogenesis of familial juvenile hyperuricemic nephropathy that is characterized by early onset of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5abe4dd62d2738d22ad9ca059e988fc04daa8f83	The disease complex medullary cystic disease/@DISEASE$ (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and @PHENOTYPICFEATURE$.	has_symptom
+5a71d05f25b51938d2242b07b7448958eaeee056	The disease complex medullary cystic disease/@DISEASE$ (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent @PHENOTYPICFEATURE$, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure.	false
+8f7f15ca210da2825ac1e93e2d2c2f934dbf60a6	The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent @PHENOTYPICFEATURE$, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and @DISEASE$.	false
+ae502e969557e45b308ea9aa42ce03d0cea3f8bc	@DISEASE$ (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis, and progressive @PHENOTYPICFEATURE$ at an early age.	has_symptom
+66911973139cba6d7ef6e75853afacb9fa8c045f	@DISEASE$ (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of @PHENOTYPICFEATURE$, gouty arthritis, and progressive renal failure at an early age.	false
+8f4a1d838184157d3f5bb02fd93ea55bddcc820c	Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of @PHENOTYPICFEATURE$, gouty arthritis, and progressive @DISEASE$ at an early age.	false
+f3d5a0c793583a8e47abdcd63754a574684782c4	Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of @PHENOTYPICFEATURE$, @DISEASE$, and progressive renal failure at an early age.	false
+b76335bd38d679d9ce9ce2ff8ba73799c4a0b0de	Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant @DISEASE$ characterized by juvenile onset of @PHENOTYPICFEATURE$, gouty arthritis, and progressive renal failure at an early age.	false
+2b3848fe2bb7e4ae1ead37480997694f2ccbeb94	@DISEASE$ (FJHN [MIM 162000]) is an autosomal-dominant disorder characterized by abnormal tubular handling of urate and late development of chronic interstitial nephritis leading to progressive @PHENOTYPICFEATURE$.	has_symptom
+c015fb0a0e9355753b638102cbd1e3f5dc877fa6	Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) and @DISEASE$ (FJHN) are heritable renal diseases with autosomal-dominant transmission and shared features, including polyuria, progressive @PHENOTYPICFEATURE$, and abnormal urate handling, which leads to hyperuricemia and gout.	has_symptom
+2ca94a49bce6b1eccefabe16608c4b7d97004071	@DISEASE$ 1 (FJHN1) is an autosomal dominant disorder characterized by decreased urinary excretion of urate and hyperuricemia, followed by the development of chronic interstitial nephritis most often leading to progressive @PHENOTYPICFEATURE$ and death in middle age.	has_symptom
+a4713c8227a15eee9de405440f42578249d3f51b	@DISEASE$ (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic interstitial nephritis, with marked thickening of tubular basement membranes, and leads to progressive @PHENOTYPICFEATURE$ during adulthood.	has_symptom
+63f1af8e8452ad6e39a24552be23eb0ca89473db	@DISEASE$ (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive @PHENOTYPICFEATURE$.	has_symptom
+dd42dc35c85ea02fb813ec1e8a349e493dc817e8	marker, was found in a @PHENOTYPICFEATURE$ male with a mild form of the @DISEASE$ and aplasia of the right thumb.	has_symptom
+05649ac59a4ac9632bb6a9512e77d4ca6d87b77f	Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed brain myelination in @DISEASE$, a disorder characterized by @PHENOTYPICFEATURE$, dysmorphic features, and growth failure.	has_symptom
+b0f3774e0a1d7f57aa67088a7b2ea2cb73b45d65	The @DISEASE$ (18q-) is a multiple-anomaly disorder associated with @PHENOTYPICFEATURE$, white matter anomalies in the brain, growth hormone deficiency, congenital aural atresia, orofacial cleft (OFC), and palate abnormalities.	has_symptom
+a393252806976b4a0293ba43674beff2ebbdeba8	The 18q deletion syndrome (18q-) is a multiple-anomaly disorder associated with @DISEASE$, white matter anomalies in the brain, growth hormone deficiency, congenital aural atresia, orofacial cleft (OFC), and @PHENOTYPICFEATURE$.	false
+defdde058550862b54cb5cb609c4883d1da42c89	The @DISEASE$ (18q-) is a multiple-anomaly disorder associated with mental retardation, white matter anomalies in the brain, growth hormone deficiency, congenital aural atresia, orofacial cleft (OFC), and @PHENOTYPICFEATURE$.	false
+122c5f147692ac8ddb53f68e446bd1c63e05e61d	The findings typical of the @DISEASE$ included @PHENOTYPICFEATURE$, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.	has_symptom
+0c4ce7a75d756003c365cdb3d036b0fb428cd545	The findings typical of the 18q- syndrome included @DISEASE$, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were @PHENOTYPICFEATURE$, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.	false
+15bc5f69acaf4514eddfe4a3408f527db02122a1	The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of @DISEASE$ were @PHENOTYPICFEATURE$, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.	false
+c29ed0b9b617cf5a6a16cc7bfcbdebaf5d78f808	The findings typical of the @DISEASE$ included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were @PHENOTYPICFEATURE$, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.	false
+cdd68bf0f1628f66871787475d15e3fefd1a5a4c	The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were @PHENOTYPICFEATURE$, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive @DISEASE$ since the age of 5 years.	false
+79275c8e093ccaa37ddd3e73348ffd736222efb7	The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were @PHENOTYPICFEATURE$, @DISEASE$ behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.	false
+c098c647f77d95052a045be0b5c4b3719a835f31	The @DISEASE$ is a deletion syndrome that is characterized by @PHENOTYPICFEATURE$, hearing loss, midfacial hypoplasia, growth deficiency, and limb anomalies.	has_symptom
+c40970959aed5400d39efe73aea564c685cedd5f	The 18q- syndrome is a deletion syndrome that is characterized by @DISEASE$, hearing loss, midfacial hypoplasia, growth deficiency, and @PHENOTYPICFEATURE$.	false
+28e787b663adb31e1e93147d7b9c957e58b95121	The 18q- syndrome is a deletion syndrome that is characterized by mental retardation, @DISEASE$, midfacial hypoplasia, growth deficiency, and @PHENOTYPICFEATURE$.	false
+b5b644c1f21c7e5a01e942beb356c8ae8c1ebea1	The @DISEASE$ is a deletion syndrome that is characterized by mental retardation, hearing loss, midfacial hypoplasia, growth deficiency, and @PHENOTYPICFEATURE$.	false
+1e6af61b5519237b7b9dba72d0fcdb5e34b5be71	The 18q- syndrome is a deletion @DISEASE$ that is characterized by mental retardation, hearing loss, midfacial hypoplasia, growth deficiency, and @PHENOTYPICFEATURE$.	false
+dd94a7a18eb8f7e0e509bb573a8659af360015af	The family members show features common to @DISEASE$ such as @PHENOTYPICFEATURE$, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	has_symptom
+aee6ce6a6c9e0606a89917a8420a7dde8d9a3c4a	The family members show features common to @DISEASE$ such as mental retardation, multiple @PHENOTYPICFEATURE$, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+7061fe51ea09d283051d1845092209a3d74170ac	The family members show features common to 18q- syndrome such as mental retardation, multiple @PHENOTYPICFEATURE$, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including @DISEASE$ (IgAD).	false
+d5e93d4ed9bd08923c9f375e31010eff17ab0fec	The family members show features common to 18q- syndrome such as @DISEASE$, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+6ca0d4e743dc1626dac6fcb0fb7173f36c3e0553	The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including @DISEASE$ (IgAD).	false
+ab75ec31989306564eccffc0ada667edc479e0fb	The family members show features common to 18q- syndrome such as mental retardation, multiple @PHENOTYPICFEATURE$, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/@DISEASE$ including IgA deficiency (IgAD).	false
+3bd84a8a5b26a17685408a723db8113b35c06fb1	The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/@DISEASE$ including IgA deficiency (IgAD).	false
+9fa65059c142f88a8f10de16ae0fd3c09985d367	The family members show features common to 18q- syndrome such as @DISEASE$, multiple @PHENOTYPICFEATURE$, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+b4a40dd89c2d1ff287eeffd7722658997d34b038	The family members show features common to @DISEASE$ such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+fb291c2414c0f5365c87d5a08bcb72bbd96ecc64	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @PHENOTYPICFEATURE$, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	has_symptom
+959282ebaab9a8974270fb246ebc4963a71a681f	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @DISEASE$, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+668d84df3ce2ee5fcfbef516928be2b55ef5b981	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+900137481bb64db63ae18b4bae3d6f30436ac4a5	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @DISEASE$, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+698685a3cdc4d41d7b80cb85c41b16cf8a050565	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising @DISEASE$, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	false
+3783ba4fad68614d0ce6ad0a360fc7faa4fac7b2	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	false
+7a01a0402ca052aa65f339d73435da7e65d33899	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and @DISEASE$ dysostosis.	false
+1c260ee21aa4c310fe574a93b251af3054ab7fe9	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+e81e2ad0d403c2645ecdff900352507e70c145be	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+752432bcdc2ee10cf7be31c7e677037709df1926	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial dysostosis.	false
+b76a398cf592076c1107fdd8453901bc1039e814	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and @DISEASE$ dysostosis.	false
+1a13385575ccd63a8661af5209d1723743d54bf6	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, @PHENOTYPICFEATURE$, and facial @DISEASE$.	false
+004d570599c2e598e778574b04dcffea0132a4e2	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+92e0aefa2db6a3616b08aac9d35ec2a110d676e1	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis.	false
+235ecf943538d1ae4efc325fd67056f312ba2437	@DISEASE$ (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial dysostosis.	false
+231597e6fd843dda02e23fe309c532e48556e59d	Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, @PHENOTYPICFEATURE$, hypogonadism, hydrocephalus, and facial @DISEASE$.	false
+e52d8399b482b10c9e2c499425d48a88599b8b41	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @PHENOTYPICFEATURE$, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	has_symptom
+ef8ac9861c32b10d6fb7687e1b6f8419ea5d9562	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+def888fe0e93ee86d89995efc11ff2e5ae30199d	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+5a085c1dbedb3177d59d1951dc38516d83e685ea	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+54559d27902c0ceed46de4dbfd070d8ff0cc4814	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+851287c8fcf0e612736df72a9fc9c4047632d370	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+18bf18adb5a46a3747e2c219fd6119dab2633f5c	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, @DISEASE$, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+62ca21d2a91c60f4ddf5f5eb33045a7992a69180	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, @DISEASE$, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+d191ccb0d8a10fb34553d1cd2c499a984cdc1843	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+36377fe3917a8b1a35a0f38dc4ac0bd91f0afc21	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+b6a6287ba1dedf159edb759d7ae8dedf8a552311	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+0b705ddfe3f23b261d4e35e517e4562592022969	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+dcdfda041eceae9391b0d472d55fd5fadd4cc484	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, @DISEASE$, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+06e2bf024ebc2f5f25b527b855f3f2a1ccc3f077	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+c276b6c72abd7d8a7253de4066690ef9976d6747	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, @DISEASE$ and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+03f6dec81599bfd5055ccc5c47ec9fccbc3d0b52	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+4169802a69bcd8ed3a96350c181d733855d2cf33	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+2531f3fa7ad2e8bc8c29b2bc9b71ac7910ee45bb	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of @DISEASE$, optic nerve atrophy, diabetes insipidus, @PHENOTYPICFEATURE$, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+c842182806cafaf8f7e5545c6879dcc26d84a208	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive @DISEASE$ (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+11a0ae27611b5d0b683f42966a2526cabb32af65	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and @PHENOTYPICFEATURE$), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+231e98eaade46dfa0568f0dab44682210d358f57	Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy.	false
+357c7281bf8d4e81347560dd7080ec8ec7a7f7a8	We describe a 13-year-old boy with @DISEASE$, language impairment, @PHENOTYPICFEATURE$, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder.	has_symptom
+05eda734e81ce0b5a6561e2e7ef3f515aa03b355	We describe a 13-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$, seizures, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder.	false
+dbfd43e4a2657f4f3c13fa67231c266812e24cc3	We describe a 13-year-old boy with 49,XXXXY syndrome, @PHENOTYPICFEATURE$, @DISEASE$, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder.	false
+0e58c8ed5dcb884fd3818c1916f23eee7cee093b	Here, we report on a young girl with features of @DISEASE$, specifically @PHENOTYPICFEATURE$, thoracoscoliosis, and generalized enchondromas lesions.	has_symptom
+44b8a270627d290747bedfe190229c0dec5e7112	The skeletal findings were consistent with the clinical and radiological features of @DISEASE$ except that @PHENOTYPICFEATURE$ was not apparent in the neonatal period.	has_symptom
+dc709e9d54c7e95e0daeece00c0ef3ae2371cbe5	@DISEASE$ (AOC) is a rare malformation complex of the first pharyngeal arch that is characterized by agnathia/dysgnathia, microstomia, @PHENOTYPICFEATURE$/hypoglossia and variable displacement of the ears.	has_symptom
+3aad37d85e73a9b1f623ff29e612a25eb8dd35a3	Patients with @DISEASE$ present with mental retardation expressive @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+ebbe1863b7c635486f091679474ebc34bdc68c72	Patients with @DISEASE$ present with @PHENOTYPICFEATURE$ expressive speech and language delay, and epilepsy.	false
+2a6c41d8b428697f1cbc4a00dd7e2a2edf4f0e2e	Patients with creatine deficiency syndromes present with @PHENOTYPICFEATURE$ expressive @DISEASE$, and epilepsy.	false
+3af5d4efdd61c568a2332638eb0c477631b2d9b3	@DISEASE$ are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, @PHENOTYPICFEATURE$, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.	has_symptom
+5c39736594cf943f0b36e0c81f8f98eeaa7458f9	Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.	false
+56343a63df1d862fad5d61c15149d6f7406bc949	Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by @PHENOTYPICFEATURE$, language delay, epilepsy, @DISEASE$, and movement disorders secondary to decrease of Cr concentration in the brain.	false
+2e859316bf5cdc50055fa5fff90c282d80934d79	Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by @PHENOTYPICFEATURE$, language delay, epilepsy, autism spectrum disorder, and @DISEASE$ secondary to decrease of Cr concentration in the brain.	false
+c2b3e8c30ce7e6b9b30e75bdc66c63bdfe14b456	@DISEASE$ are a group of disorders of creatine (Cr) synthesis and transport characterized by @PHENOTYPICFEATURE$, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain.	false
+dd6dc821775f71922a64cef1e43d2e3b7fc3fc8e	Further, other characteristics reported in @DISEASE$ were observed in the ART group, such as @PHENOTYPICFEATURE$, umbilical hernia, and ear malformations.	has_symptom
+9e19804b0aadcf8285633a593df49aa8934da7cd	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+8a6bc5771c82aac51d9ada6c307d88c7a371cf86	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5fafac532e5bfc959b5122c57eaf0b0f8e2c333c	@DISEASE$ (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, @PHENOTYPICFEATURE$ paresis, and dementia.	has_symptom
+290ea515867dba29f25a0e1aeeea7d3bae0a86bc	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, @PHENOTYPICFEATURE$ paresis, and dementia.	has_symptom
+f84da288166e5a23293e896a5d11a05adfca6e66	Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, @PHENOTYPICFEATURE$, @DISEASE$ paresis, and dementia.	false
+96c2b68c1dfe81d352f7bf5b31d21185c46adecf	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, @PHENOTYPICFEATURE$, cerebellar ataxia, spastic paresis, and dementia.	false
+f6e11bea1f847039f629938cd773dc2a23680d5e	Cerebrotendinous xanthomatosis (CTX) is a rare @DISEASE$ characterized by xanthomata of tendons, osteoporosis, cataracts, @PHENOTYPICFEATURE$, spastic paresis, and dementia.	false
+c54e7f0b502999ecc53e6840df754796791bbd96	Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, @PHENOTYPICFEATURE$, cerebellar ataxia, spastic paresis, and @DISEASE$.	false
+c82a96008e6443d49b7586384be65688f5347861	Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, @PHENOTYPICFEATURE$, cerebellar ataxia, @DISEASE$ paresis, and dementia.	false
+5a0e6360537244fb5f6cc80ced1e96024f8ab16f	Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, @PHENOTYPICFEATURE$, spastic paresis, and @DISEASE$.	false
+9656f01b6a0cefc073767922584c7ea185cae702	@DISEASE$ (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, @PHENOTYPICFEATURE$, spastic paresis, and dementia.	false
+1ffce753cc1b46a9aa2ec27cd3671a32368cceed	Cerebrotendinous xanthomatosis (CTX) is a rare @DISEASE$ characterized by xanthomata of tendons, osteoporosis, @PHENOTYPICFEATURE$, cerebellar ataxia, spastic paresis, and dementia.	false
+d0f0380f183ea9e6f709cda71a20809a3393eb6a	@DISEASE$ (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, @PHENOTYPICFEATURE$, cerebellar ataxia, spastic paresis, and dementia.	false
+9f8dc6d6859b53fa9e0f7f98564722b4cc00cdd5	Cerebrotendinous xanthomatosis (@DISEASE$) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, @PHENOTYPICFEATURE$, spastic paresis, and dementia.	false
+18e8905e33af75829fd2f8d7935395837540448b	This review focuses on the frequency of more unusual, non-ataxia and non-@PHENOTYPICFEATURE$ movement disorders reported in @DISEASE$.	has_symptom
+e7db2989f2c3babd214c90b82ab9e3bdb7479178	This review focuses on the frequency of more unusual, non-ataxia and non-@DISEASE$ @PHENOTYPICFEATURE$ reported in CTX.	false
+24c794fe647453a15ec204328ac2ca471977109d	This review focuses on the frequency of more unusual, non-ataxia and non-spasticity @PHENOTYPICFEATURE$ reported in @DISEASE$.	false
+10e45897409c286eb07828cce77104c73e2a16a5	The purpose of the study was to assess the frequency and clinical relevance of @PHENOTYPICFEATURE$ in the @DISEASE$ phenotype and to study the usefulness of transcranial magnetic stimulation (TMS) in detecting corticospinal tract damage and monitoring the effects of replacement therapy.	has_symptom
+7202c654bd67f126141cf9dc5c4095b4f77168a1	Clinical relevance and neurophysiological correlates of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+47d3c2f6b033898fd1b2ebf952e817ca478c2768	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of @DISEASE$ including the multiple xanthomas of tendons, mental retardation, bilateral cataracts, cerebellar ataxia and @PHENOTYPICFEATURE$ of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	has_symptom
+2932e33d2093d46024d3743514e44d7d363c1abc	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of cerebrotendinous xanthomatosis including the multiple xanthomas of tendons, mental retardation, bilateral cataracts, @PHENOTYPICFEATURE$ and @DISEASE$ of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	false
+e334c4b5c13223fe7303788516341e39d2430e8c	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of cerebrotendinous xanthomatosis including the multiple xanthomas of tendons, @PHENOTYPICFEATURE$, bilateral cataracts, cerebellar ataxia and @DISEASE$ of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	false
+3f61de9f846590f4864154afa2d989b058e562b2	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of cerebrotendinous xanthomatosis including the multiple xanthomas of tendons, mental retardation, bilateral @PHENOTYPICFEATURE$, cerebellar ataxia and @DISEASE$ of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	false
+aef523f61e0f421527d8b3c7695ec8b38742a5ad	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of @DISEASE$ including the multiple xanthomas of tendons, mental retardation, bilateral @PHENOTYPICFEATURE$, cerebellar ataxia and spasticity of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	false
+6e8d06a220a64c533c2146dfceb63754355e5763	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of @DISEASE$ including the multiple xanthomas of tendons, mental retardation, bilateral cataracts, @PHENOTYPICFEATURE$ and spasticity of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	false
+3f70565374c82322b6c6c266fa9b6708407169cc	We reported a 31-year-old Chinese male in Hong Kong, who has the characteristic features of @DISEASE$ including the multiple xanthomas of tendons, @PHENOTYPICFEATURE$, bilateral cataracts, cerebellar ataxia and spasticity of the left arm, high concentrations of plasma phytosterols and abnormal MR of brain.	false
+ba3db77e068c2763cee58c6a5eca0fc227fbd528	X-linked recessive, autosomal dominant and autosomal recessive types of @DISEASE$ have been reported, and there are a variety of syndromes of isolated @PHENOTYPICFEATURE$ in association with other developmental anomalies involving dwarfism, cortical thickening of tubular bones, nephropathy, sensoryneural deafness and lymphedema.	has_symptom
+c4b680c40c6e30cd59a1a855de6a89cd4c33090b	X-linked recessive, autosomal dominant and autosomal recessive types of familial isolated hypoparathyroidism have been reported, and there are a variety of syndromes of isolated hypoparathyroidism in association with other developmental anomalies involving dwarfism, cortical thickening of tubular bones, @DISEASE$, sensoryneural @PHENOTYPICFEATURE$ and lymphedema.	false
+ec2167c6e44ffcc13bc2e10e2d56585c696b62ba	X-linked recessive, autosomal dominant and autosomal recessive types of @DISEASE$ have been reported, and there are a variety of syndromes of isolated hypoparathyroidism in association with other developmental anomalies involving dwarfism, cortical thickening of tubular bones, nephropathy, sensoryneural @PHENOTYPICFEATURE$ and lymphedema.	false
+2eb3cc9f3d0e5044c6ba2767659f38db74049b31	X-linked recessive, autosomal dominant and autosomal recessive types of familial isolated hypoparathyroidism have been reported, and there are a variety of syndromes of isolated @DISEASE$ in association with other developmental anomalies involving dwarfism, cortical thickening of tubular bones, nephropathy, sensoryneural @PHENOTYPICFEATURE$ and lymphedema.	false
+100ad637bfa5606e739df3e9128297da77014496	@DISEASE$ is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac @PHENOTYPICFEATURE$.	has_symptom
+100ad637bfa5606e739df3e9128297da77014496	@DISEASE$ is an autosomal recessive disorder of fatty acid oxidation characterized by hypoketotic hypoglycemia and skeletal and cardiac @PHENOTYPICFEATURE$.	has_symptom
+ecd24e8ca21324b47125aadefcd9cd1b570c1a8e	@DISEASE$ is an autosomal recessive disorder caused by defective carnitine transport which impairs fatty acid oxidation and manifests as nonketotic hypoglycemia or skeletal or heart @PHENOTYPICFEATURE$.	has_symptom
+79a61465558f439d3e268f6d5ec19fafe358aa4e	Systemic @DISEASE$ (CDSP) is caused by recessive mutations in the SLC22A5 (OCTN2) gene encoding the plasmalemmal carnitine transporter and characterized by hypoketotic hypoglycemia, and skeletal and cardiac @PHENOTYPICFEATURE$.	has_symptom
+dab1d639ccc03833f061e8775cb74342e4b91330	However, in four patients (with dermatomyositis, phosphorylase deficiency, @DISEASE$, and ocular @PHENOTYPICFEATURE$ with "ragged-red fibers") exercise cardiac output was excessive and delta Q/delta VO2 high, resulting in an abnormally high level of cardiac work for a given level of exercise.	has_symptom
+7279ebcce886dfab573af64e27fbaae55af22f4d	@DISEASE$ is an autosomal recessive disorder caused by defective carnitine transport and manifests as nonketotic hypoglycemia or skeletal or heart @PHENOTYPICFEATURE$.	has_symptom
+9b8ed074dc540712480052c50046a8fee9693412	There is limited evidence suggesting that obesity may also be associated with poor prognosis among patients with colorectal cancer, @PHENOTYPICFEATURE$, endometrial cancer, @DISEASE$, and pancreatic cancer.	has_symptom
+c7596b86c9eaa722160fa8e7eef583d79342fdad	There is limited evidence suggesting that @PHENOTYPICFEATURE$ may also be associated with poor prognosis among patients with colorectal cancer, @DISEASE$, endometrial cancer, ovarian cancer, and pancreatic cancer.	false
+045ac786d70ec896a40aea7d654ce9f521de2ab7	There is limited evidence suggesting that @PHENOTYPICFEATURE$ may also be associated with poor prognosis among patients with colorectal cancer, breast cancer, endometrial cancer, ovarian cancer, and @DISEASE$.	false
+5d74b8b0322e34d5b3bd97b8b5cf84729bf981ae	There is limited evidence suggesting that @PHENOTYPICFEATURE$ may also be associated with poor prognosis among patients with colorectal cancer, breast cancer, @DISEASE$, ovarian cancer, and pancreatic cancer.	false
+f7903abc2504e578a4a6bd745723af6387a1c33f	There is limited evidence suggesting that @PHENOTYPICFEATURE$ may also be associated with poor prognosis among patients with @DISEASE$, breast cancer, endometrial cancer, ovarian cancer, and pancreatic cancer.	false
+d50eb5b66c4a5ce19637f2ee9e438313260dfbc5	There is limited evidence suggesting that @PHENOTYPICFEATURE$ may also be associated with poor prognosis among patients with colorectal cancer, breast cancer, endometrial cancer, @DISEASE$, and pancreatic cancer.	false
+cb944348cc1cff70e494e61f599789f73c6a9d4c	Three compound 7d (NSC code 761448/1), 7e1 (NSC code 767161/1), and 7e3 (NSC code 767160/1) were found to exhibit higher anticancer activity than 5-fluorouracil against Colon cancer, Melanoma, @DISEASE$, and @PHENOTYPICFEATURE$ subpanels.	has_symptom
+024f3e2945b320dbaa7a4af9e1af06cbfdd35250	Three compound 7d (NSC code 761448/1), 7e1 (NSC code 767161/1), and 7e3 (NSC code 767160/1) were found to exhibit higher anticancer activity than 5-fluorouracil against @PHENOTYPICFEATURE$, Melanoma, @DISEASE$, and Breast cancer subpanels.	false
+d51c600884418b231cb1623c19938efec9d17fc0	Three compound 7d (NSC code 761448/1), 7e1 (NSC code 767161/1), and 7e3 (NSC code 767160/1) were found to exhibit higher anticancer activity than 5-fluorouracil against @PHENOTYPICFEATURE$, @DISEASE$, Ovarian cancer, and Breast cancer subpanels.	false
+2a24f13e7f96d0afcd098a38197afc8b881b1dd0	Three compound 7d (NSC code 761448/1), 7e1 (NSC code 767161/1), and 7e3 (NSC code 767160/1) were found to exhibit higher anticancer activity than 5-fluorouracil against @PHENOTYPICFEATURE$, Melanoma, Ovarian cancer, and @DISEASE$ subpanels.	false
+ce8c93697eaa228e166b3c6e637481a4137ec676	Included patients had lymphoma, @DISEASE$, or @PHENOTYPICFEATURE$.	has_symptom
+c59da4f7366a8d13da790e87a45007bbd8412454	A total of 359 breast cancer patients, who presented with either a family history (FH) of breast and/or @DISEASE$ or early onset @PHENOTYPICFEATURE$, were accrued at the National Cancer Center Singapore (NCCS).	has_symptom
+2ae4a65661ebf6c15e685aa31063deb7030fbae8	A total of 359 @PHENOTYPICFEATURE$ patients, who presented with either a family history (FH) of breast and/or @DISEASE$ or early onset breast cancer, were accrued at the National Cancer Center Singapore (NCCS).	has_symptom
+7afc21fd75da7929167d9baf91ef048b59e1f814	A total of 359 breast cancer patients, who presented with either a family history (FH) of breast and/or ovarian cancer or early @PHENOTYPICFEATURE$ breast cancer, were accrued at the National @DISEASE$ Center Singapore (NCCS).	false
+edfce0cfa9761df96d98d83249ee162d2bb0260b	A total of 359 breast cancer patients, who presented with either a family history (FH) of breast and/or @DISEASE$ or early @PHENOTYPICFEATURE$ breast cancer, were accrued at the National Cancer Center Singapore (NCCS).	false
+4a5ea80335fe96f30819fc8c52b7bd574d1ee980	A total of 359 @DISEASE$ patients, who presented with either a family history (FH) of breast and/or ovarian cancer or early @PHENOTYPICFEATURE$ breast cancer, were accrued at the National Cancer Center Singapore (NCCS).	false
+883da6342b206f6230e4684697dd6022c2f42412	A total of 359 breast cancer patients, who presented with either a family history (FH) of breast and/or ovarian cancer or early @PHENOTYPICFEATURE$ @DISEASE$, were accrued at the National Cancer Center Singapore (NCCS).	false
+e62e3fd88ec9651e2edb69b9acc7dcbf67dbdd82	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both @PHENOTYPICFEATURE$ and @DISEASE$ in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+8edfe338453f75d2763d8e621899bf5f241916bc	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both @PHENOTYPICFEATURE$ and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and @DISEASE$- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+dec57fdf57d284aeaac1433b9a5ddf8fe6c7b41c	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and @DISEASE$ in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in @PHENOTYPICFEATURE$ risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+97361baba3af5e703d0cc365147d4f583ff64734	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of @DISEASE$ in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in @PHENOTYPICFEATURE$ risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+39595dc0aa2e384d155c48a03203c79020210acd	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and @DISEASE$- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in @PHENOTYPICFEATURE$ risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+83ca3e2bee64eea561b38c5fcb50fbe05fad0b9a	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, @PHENOTYPICFEATURE$-specific, and @DISEASE$- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+ecb046f4a52ee0fe9a81d61e650891bea0718bca	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of ovarian cancer in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and @DISEASE$ in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, @PHENOTYPICFEATURE$-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+6615667b9299d99e8e38f9088c5e10a77ca22323	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of @DISEASE$ in the family; bilateral salpingo-oophorectomy decreases the risk of both @PHENOTYPICFEATURE$ and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, breast cancer-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+c2eab1c0964d5d5ab18848dd4dd5659080b72b78	Only limited data are available regarding the preventive benefit of tamoxifene in BRCA mutations carriers 1. Risk-reducing bilateral salpingo-oophorectomy is recommended for BRCA mutation carriers by 35 to 40 or when childbearing is completed, or individualized based on age of onset of @DISEASE$ in the family; bilateral salpingo-oophorectomy decreases the risk of both breast cancer and ovarian cancer in BRCA1 and BRCA2 mutation carriers and has also been associated with reduced all cause, @PHENOTYPICFEATURE$-specific, and ovarian cancer- specific mortality; risk-reducing bilateral salpingooophorectomy seems to offer an approximate 50% relative reduction in breast cancer risk 1. Prophylactic mastectomy provides the greatest reduction in risk of breast cancer development.	has_symptom
+3e251ded571ea47fbeee1dd51d15a1f91aea4027	More than 20 years after its approval by the Food and Drug Administration (FDA), liposomal doxorubicin (DOX) is still the drug of choice for the treatment of @PHENOTYPICFEATURE$ and other conditions such as @DISEASE$ and multiple myeloma.	has_symptom
+1558c203f10d92c489d0dbbf2f57222441ffb16c	More than 20 years after its approval by the Food and Drug Administration (FDA), liposomal doxorubicin (DOX) is still the drug of choice for the treatment of breast cancer and other conditions such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+49188bfd2705009650784fb831e726567be861c0	More than 20 years after its approval by the Food and Drug Administration (FDA), liposomal doxorubicin (DOX) is still the drug of choice for the treatment of @DISEASE$ and other conditions such as ovarian cancer and @PHENOTYPICFEATURE$.	false
+62e62f60d3881f80b4d8f86746c92ee22da006cf	Moreover, stratified analyses by the cancer type and source of control observed significantly increased risk associated with BRCA2 N372H in subgroups with @DISEASE$, non-Hodgkin lymphoma and population-based controls, but not @PHENOTYPICFEATURE$ or hospital-based controls.	has_symptom
+79ff30f6aea0bc03540dcedd9a6de4d0099ec89f	Additionally, they met one of the following criteria: (i) personal history of bilateral breast cancer, (ii) personal history of @PHENOTYPICFEATURE$ and a first or second degree relative with @DISEASE$, and (iii) personal history of ovarian, fallopian tube, or peritoneal carcinoma.	has_symptom
+61caa22b23a0dfd85bb03a36d701c4f36dad5514	In the present study, we downregulated FANCF expression by small interfering RNA (siRNA) in OVCAR @DISEASE$ cells to address the effects of decreased FANCF expression on the function of the Fanconi anemia (FA)/@PHENOTYPICFEATURE$ susceptibility gene (BRCA) pathway.	has_symptom
+43806836ccb7c95913c8ad5da4c9fbc84fb48c77	Also, depending on the disease being diagnosed, the market can also be divided into cancer, infectious diseases, HIV/STDs (herpes, syphilis), and women's health issues such as @PHENOTYPICFEATURE$, cervical cancer, @DISEASE$, HPV(human papillomavirus), and vaginitis.Chromosome analysis (including Fluorescent In-situ Hybridization) is one type of blood cancer diagnostic method, which involves the direct detection of individual cells with chromosomal translocation, but there have been problems of sensitivity when using this method.	has_symptom
+5f0d78f1120edf1aa14bed759f9bcb1644df4cfc	Additional patients can be affected by dwarfism, scoliosis @DISEASE$, @PHENOTYPICFEATURE$ and a blueish discoloration of the sclera.	has_symptom
+1394c70272138572937277ff3b63a7612662ba93	ABAT deficiency, also known as @DISEASE$, is caused by recessive mutations in the gene ABAT and leads to encephalopathy of variable severity with hypersomnolence, hypotonia, hypomyelination, and @PHENOTYPICFEATURE$.	has_symptom
+ede2c41a8a4d8cda37876266e9a6951fc3a3a090	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	has_symptom
+ef554351d2b68a7639cdffbff6e1924aa967c484	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, @PHENOTYPICFEATURE$, and @DISEASE$).	false
+0f8e1c461306dfa5e72c797de14f0cd426231054	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	false
+2277843541885cad1fe58a4b30737275d088c3f9	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, vestibular dysfunction, and visual impairment).	false
+f23ec783c338ba06779d38b5cfbec6662b97ef56	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and @DISEASE$).	false
+4fdf41f2cee99b5cbc96148e83d7c7f54fdbce10	Mutations in the human cadherin 23 (CDH23) gene cause @PHENOTYPICFEATURE$, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and visual impairment).	false
+42b18daabee751a2e8a59b64e68e42fcc2792a57	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment).	false
+d9c47eada0108ae019bce006be21a8f3627a38af	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment).	false
+442b0b2c5e0ff18ee0bd162e49da8b5b9b5650ee	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and @DISEASE$).	false
+c621d6cfc91b7f0f1081f7de02c95b6467751b44	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or @DISEASE$ (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	false
+dc99d53c5080fd965228177e41e53ade252f92cf	Serum levels of immunoreactive insulinlike growth factors (IGF) I and II were determined by a modified IGF I and a new IGF II radioimmunoassay in normal children and adults, and in patients with acromegaly, @DISEASE$, and extrapancreatic tumor @PHENOTYPICFEATURE$.	has_symptom
+80ad8edbbc99055d4e2858907532ff52801ea3e4	Serum levels of immunoreactive insulinlike growth factors (IGF) I and II were determined by a modified IGF I and a new IGF II radioimmunoassay in normal children and adults, and in patients with acromegaly, @DISEASE$, and extrapancreatic @PHENOTYPICFEATURE$ hypoglycemia.	false
+720bcfa606320acb7098d6dcfb73c22e7e501c74	Serum levels of immunoreactive insulinlike growth factors (IGF) I and II were determined by a modified IGF I and a new IGF II radioimmunoassay in normal children and adults, and in patients with acromegaly, isolated growth hormone deficiency, and extrapancreatic @PHENOTYPICFEATURE$ @DISEASE$.	false
+7a3dfc6b9216a7886a4de2aed71bace9452c098e	The first is a 27-year-old woman with a history of polyarticular @DISEASE$, who presented with thrombocytopenia, @PHENOTYPICFEATURE$, schistocytes on blood smear, headache, and active arthritis.	has_symptom
+2d8f2522f4af4271de4d7d638a89619d39944c28	Abdominal @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+dc32ea98d8ca00108c61781d2938174791f7df59	Retinal @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+6175b7b9368312732feccde491de5bcc3b1888ef	[Cerebral MRT in @DISEASE$: gliosis versus @PHENOTYPICFEATURE$?].	has_symptom
+3755619b10e0f7cf435e6db79efae41a8a6e6785	@DISEASE$ type I: spinal @PHENOTYPICFEATURE$ without symptoms.	has_symptom
+697dc43d540ebd6e430a743ebdca754513b63198	Wilms's @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c38edbbfa0a2eb602afc99c5705473c7566736d2	Advances in the treatment of @DISEASE$-associated @PHENOTYPICFEATURE$.	has_symptom
+0b0b9866925e807bdabf59196a2961c3057e9cf0	Bilateral acoustic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+c0acb84a3460c13ae18555760c4004302aa4eae1	[Royal @PHENOTYPICFEATURE$ of @DISEASE$].	has_symptom
+ef2009ad9f2de45a273ac1e59ecdbfbf46a729cf	As the @PHENOTYPICFEATURE$ is more aggressive in patients with neurofibromatosis, the prognosis is better for patients without @DISEASE$.	has_symptom
+40b09eb27b3e4124821f6bfe7c715f9682e30368	As the @PHENOTYPICFEATURE$ is more aggressive in patients with @DISEASE$, the prognosis is better for patients without neurofibromatosis.	has_symptom
+ad9dec62572723970cb45831801472756d5b6451	@DISEASE$ and related @PHENOTYPICFEATURE$.	has_symptom
+b478311549ede3d44cb8915d27686be965d2eed1	@DISEASE$ or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular hypertonia and @PHENOTYPICFEATURE$, exaggerated by the slightest stimulus.	has_symptom
+9ccb45d94927489f9a0f88ad9f88f874bf543b1a	Startle disease or @DISEASE$ is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular @PHENOTYPICFEATURE$ and myoclonic jerks, exaggerated by the slightest stimulus.	false
+c781a28741191a9e6f488c94fc3944076b81b42b	Startle disease or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular @PHENOTYPICFEATURE$ and @DISEASE$, exaggerated by the slightest stimulus.	false
+0679c94c00e4138ba2561a53e01c5bc43e4a5a2a	Startle disease or hyperreflexia is an autosomal dominant @DISEASE$, with a neonatal onset, characterized by muscular @PHENOTYPICFEATURE$ and myoclonic jerks, exaggerated by the slightest stimulus.	false
+d3511dcea15af9ef7a247586dd416132c413336c	@DISEASE$ or hyperreflexia is an autosomal dominant neurological disorder, with a neonatal onset, characterized by muscular @PHENOTYPICFEATURE$ and myoclonic jerks, exaggerated by the slightest stimulus.	false
+0130d550ae01858285cd2e186315c1820f4d397d	Patients with @DISEASE$ show some peculiar clinical features, such as @PHENOTYPICFEATURE$, facial dysmorphism, ambiguous genitalia, and multiple skeletal and cardiac defects.	has_symptom
+33418eb50e9cd584fb9c6ee294dd173cf2bab47c	Patients with @DISEASE$ show some peculiar clinical features, such as mental retardation, @PHENOTYPICFEATURE$, ambiguous genitalia, and multiple skeletal and cardiac defects.	false
+b4a14408026b89455b59cb08453ff179bbb37973	Patients with 49, XXXXY syndrome show some peculiar clinical features, such as @DISEASE$, @PHENOTYPICFEATURE$, ambiguous genitalia, and multiple skeletal and cardiac defects.	false
+512e171ccbbdf25abaa4fe1349dd834442c7ad22	@DISEASE$ is a rare sex chromosome aneuploidy and characterized by @PHENOTYPICFEATURE$, skeletal defects, craniofacial anomalies and hypogonadism.	has_symptom
+c4a35e980298a4acef49b8d5b87b667739063a99	The clinical presentations of @DISEASE$ include @PHENOTYPICFEATURE$, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features.	has_symptom
+329a9477d83b22a59c2fe9ccbee27580343f7671	The clinical presentations of @DISEASE$ include mental deficiency, hypogonadism, severe @PHENOTYPICFEATURE$, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+82917b01319781062658bfda8717b3d838971a4a	The clinical presentations of 49, XXXXY syndrome include @DISEASE$, hypogonadism, severe @PHENOTYPICFEATURE$, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+69a5ee07cf73b848b0e302358579e25f09ed8711	The clinical presentations of 49, XXXXY syndrome include @DISEASE$, @PHENOTYPICFEATURE$, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+3f42ec669d12226378c67440dafcf1cf375fd4fc	The clinical presentations of @DISEASE$ include mental deficiency, @PHENOTYPICFEATURE$, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+16f28f8bfba23bcbecf1df51c71db0d93ba960b7	@DISEASE$ is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic hypogonadism and @PHENOTYPICFEATURE$.	has_symptom
+f6727ada9892e83ce0d8d3634f722001568a6eb3	49,XXXXY syndrome is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c4f16e4c5ba0638f30550e48b656453196ebcf1e	@DISEASE$ is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic @PHENOTYPICFEATURE$ and mental retardation.	false
+e0c0901bbbacd5aae6bbb51b2fd4fb5b4534ffc1	A rare sex chromosome aneuploidy syndrome, @DISEASE$ is characterized by @PHENOTYPICFEATURE$ with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease.	has_symptom
+eb9492f41c05b3b290548eb4a2f74a7dd7e91add	A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and @PHENOTYPICFEATURE$, hypogonadism, and @DISEASE$.	false
+fdeb2539b63ea90f89e6065750bd219e4fdb38d7	A rare sex chromosome aneuploidy syndrome, @DISEASE$ is characterized by mental retardation with severe learning difficulties, craniofacial and @PHENOTYPICFEATURE$, hypogonadism, and congenital heart disease.	false
+07988b997254c7d33b75917d75b46011b7ef907f	A rare sex chromosome aneuploidy @DISEASE$, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and @PHENOTYPICFEATURE$, hypogonadism, and congenital heart disease.	false
+26177df5e75f461e344d68c6da17bf55b2c99232	A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by @DISEASE$ with severe learning difficulties, craniofacial and @PHENOTYPICFEATURE$, hypogonadism, and congenital heart disease.	false
+04e28a9a202c8d9a865dfd85a8a4c5cce8e8a9e5	Although most males with @DISEASE$ will have significant @PHENOTYPICFEATURE$, findings in our patient and other reports suggest that variability in intellectual functioning may occur, in some instances, and may justify guarded optimism in affected males demonstrating close to or age-appropriate developmental skills through early childhood.	has_symptom
+08be6fb6531db7ffe94a30e0d190d532ada58776	@DISEASE$ with profound @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+778c2a3e8c51c3170b2789a096028b0aff0f88e4	This disease is normally characterised by @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+b9d453eb2c9a7d7344d1cc47093aed924138e988	@PHENOTYPICFEATURE$ and persistent @DISEASE$ are not rare after KTx.	has_symptom
+b110c198352f2d47697ca6c09eb91b2cb3b6b9d6	@PHENOTYPICFEATURE$ and @DISEASE$ were associated with an increased risk of progression.	has_symptom
+6991ff013a26ca6ba91d6bcd64d77024af79c7c0	Sarcoidosis, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+20355ee855a78ea00f8f2a111228393c1b173648	Secondary @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+8458fa7b498ec2b0606f162558fd5af5c1246407	He had @PHENOTYPICFEATURE$, hypophosphataemia, and @DISEASE$.	has_symptom
+c68abf16dc6649570d5beaff09a0fccc3a0438c6	He had @DISEASE$, @PHENOTYPICFEATURE$, and hyperparathyroidism.	false
+13ab2cd8e5b49441783080b8d972a62e5c2aac2a	He had hypercalcaemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e7bb74750b0d6ffd090e86d2ebd6e13dc58a35a3	The laboratory data showed @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ff02c1d3436cd7f0bdf53e8bb178d4f49d80ca0a	Following renal transplantation, @PHENOTYPICFEATURE$ is frequently caused by persisting @DISEASE$.	has_symptom
+3b4da8124acb5aa64e5cd1f2fa49d940f63eda3f	The resemblance between sarcoidosis with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7e0beec6e84e67ea9de16e79202107a4c89e6166	@DISEASE$ (deafness, onycho-osteodystrophy, and @PHENOTYPICFEATURE$): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.	has_symptom
+ad81851e6b0b4db099bdba599c7067b0e7cebf1e	@DISEASE$ (@PHENOTYPICFEATURE$, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.	false
+b03e03c0bf3c9a035d10349616871f34198cebb8	DOOR syndrome (@PHENOTYPICFEATURE$, onycho-osteodystrophy, and @DISEASE$): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.	false
+9e3d2fd5766c470acfebcf51b03cb5550d093285	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, seizures).	has_symptom
+604212af026c2c9a303de86be268f1ac9661e962	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @PHENOTYPICFEATURE$, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @DISEASE$, seizures).	false
+1f7b216f28dd568a3ed3395a2a17cc4ed1704593	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, seizures).	false
+8233bfbef1ce2e8a14505da768f2d3ec108d7732	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, @DISEASE$, seizures).	false
+0cc2cc2751bd22efee33ba139df880d42655565b	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @DISEASE$, @PHENOTYPICFEATURE$).	false
+cc0b4689059557b5df901a9a8d138efdff34b587	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @PHENOTYPICFEATURE$, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures).	false
+0c94c41e5ab6eb24c30093a66b2717c20c43bd78	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, @PHENOTYPICFEATURE$).	false
+f7fc15fe18b256996acd995df59be46b22595d5e	We report on a patient with sensorineural deafness, onycho- and osteodystrophy and @PHENOTYPICFEATURE$ (@DISEASE$) and review the literature.	has_symptom
+ee737fee1e040237b007f85ad42f3ec476ddc448	We report on a patient with @PHENOTYPICFEATURE$, onycho- and osteodystrophy and mental retardation (@DISEASE$) and review the literature.	false
+5aca4680617b2d67cad4d6af6401f24bd5ac2b99	We report on a patient with @PHENOTYPICFEATURE$, onycho- and osteodystrophy and @DISEASE$ (DOOR syndrome) and review the literature.	false
+4ced163a129c9a7cf81cf1d5863101ea2886d0f6	@DISEASE$ (deafness, onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$) is a rarely described disorder with less than 35 reports in the literature.	has_symptom
+a5eadbb0ae94942fb47ee36f4a30fd79d200704c	@DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature.	false
+fe1fad1bbe54f4223e8b19a642021d9eba6acbad	DOOR syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, and @DISEASE$) is a rarely described disorder with less than 35 reports in the literature.	false
+10237e248e86158a24d37b49d4021e64f265d822	@DISEASE$ is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and @PHENOTYPICFEATURE$.	has_symptom
+4b1682b3cd78b01d8c3589e14190abd8bad3d561	DOOR syndrome is a rare multisystem genetic disorder, consisting of @PHENOTYPICFEATURE$ (sensorineural), onychodystrophy, osteodystrophy, and @DISEASE$.	false
+051339266afefc45e38c3bb94372c39de6bc2aba	@DISEASE$ is a rare multisystem genetic disorder, consisting of @PHENOTYPICFEATURE$ (sensorineural), onychodystrophy, osteodystrophy, and mental retardation.	false
+dc5a1c56281ab67e03e46a59a90230962c162a8e	DOOR syndrome is a rare multisystem @DISEASE$, consisting of @PHENOTYPICFEATURE$ (sensorineural), onychodystrophy, osteodystrophy, and mental retardation.	false
+56f51610a15af470648873196cb0a40c6fff8861	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the @DISEASE$: deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures.	has_symptom
+c8ead6768eb5b4730131262bcf6c4a86aea0d09c	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the @DISEASE$: deafness, onychodystrophy, osteodystrophy, intellectual disability, and @PHENOTYPICFEATURE$.	false
+dc3559b9aa707ebcf71456ee00f84a48bb09cbad	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: @PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, @DISEASE$, and seizures.	false
+c39992d9fcd86e8f4a079103c1136c9456797579	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the @DISEASE$: @PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, intellectual disability, and seizures.	false
+a9b95cdaa4283d2ad0fa718f93b3765a23c5530d	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4d807174bdfcbf7e62325fe891160383d72e878e	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, @PHENOTYPICFEATURE$, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	has_symptom
+c6d091c38652cff6f6e7cdd36b761329dedac1cc	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, @DISEASE$, Seizures) is characterized mainly by @PHENOTYPICFEATURE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+7f0ef575d8c5338a7ad8a779999fcf4cd98d2e97	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, @DISEASE$, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @PHENOTYPICFEATURE$.	false
+537c892c6dba664bd11aa84eec3e6953800d5bdf	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by @PHENOTYPICFEATURE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+b4f5de85ce4c694020853ff9fc873e8a63f70062	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, @DISEASE$, @PHENOTYPICFEATURE$) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+fcd5f36579053e45acb7c0a6558fdbd2dc817273	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, @PHENOTYPICFEATURE$) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+8301058c79cb23e5015eccd53f1c5fe9caefc697	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @PHENOTYPICFEATURE$.	false
+667bab70f0dbdf418c832e7da4f8dfa937a27638	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	has_symptom
+a9dea030ffd1d0b85e401c405497538804a79ad7	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @PHENOTYPICFEATURE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	has_symptom
+7f56d1cbefc1967e520e5e2fcc816d8d349bdafd	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @DISEASE$, and seizures), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+41a46f05fc388874d9277e114dbdac2d64f09efa	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @DISEASE$, and @PHENOTYPICFEATURE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+a832358e96672b1fb667b6efa6c139d4596ff5ad	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, @DISEASE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+fb8dc156ed62948a27b02a7a0a798fe8096918f7	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and @PHENOTYPICFEATURE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @DISEASE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+b3e2f6321cb7ef44a9967a097d67af88d778c591	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and @PHENOTYPICFEATURE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+302cb95c103c011f1dcaa8ec08f7443a16568270	Two of them had a clinical diagnosis of DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, @DISEASE$, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+04d88f3586c6dac9bb5592b8943afa5c24e94fef	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @DISEASE$, and @PHENOTYPICFEATURE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+040143788aa9fb277ddb5855953c4c44da1632d2	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @DISEASE$, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and @PHENOTYPICFEATURE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+9b9ddcb1906d2a270be230e69af95807d884dd81	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and @PHENOTYPICFEATURE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+18d816faca9cd5b0696a8c2051201f38a83a7454	Two of them had a clinical diagnosis of DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @DISEASE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+9124710d4092b73f292a465065c989ee81046fb2	Two of them had a clinical diagnosis of @DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+b2b27ad4953888c1f2d63e4dc07627ba1b945888	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+16809ad856f6adbb650fb182f51bc6ee4a1e9bab	We describe three further children with the @DISEASE$ (deafness, onycho-osteodystrophy and @PHENOTYPICFEATURE$).	has_symptom
+666374cec1255db37b7951419280eb7efb56a462	We describe three further children with the DOOR syndrome (@PHENOTYPICFEATURE$, onycho-osteodystrophy and @DISEASE$).	false
+aeedfd84c4bc63e57124acd18d21d355430a3b3d	We describe three further children with the @DISEASE$ (@PHENOTYPICFEATURE$, onycho-osteodystrophy and mental retardation).	false
+2c75beb8b37be9a08d29a324bc7fd341081e3eed	@DISEASE$ (deafness, onycho-osteodystrophy, and @PHENOTYPICFEATURE$): a new patient and delineation of neurologic variability among recessive cases.	has_symptom
+5fd9461f5d3a483be44fdb2885f78ef56b56b4b4	@DISEASE$ (@PHENOTYPICFEATURE$, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.	false
+cb804b88dc58631900b1fd74daf1e2e20deedef1	DOOR syndrome (@PHENOTYPICFEATURE$, onycho-osteodystrophy, and @DISEASE$): a new patient and delineation of neurologic variability among recessive cases.	false
+87d6c42cd5ff108fc67860ca6781b244a61f08a0	Ophthalmologists must be aware of the ocular and systemic findings of @DISEASE$ in the evaluation of young patients with mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+cbe9e7e19919bf80cb1a5c453b46413f6d78ee78	Ophthalmologists must be aware of the ocular and systemic findings of @DISEASE$ in the evaluation of young patients with @PHENOTYPICFEATURE$ and visual impairment.	false
+3861b0cad13bccc02cb72783287ff1a26ce369d3	Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+eb64df794993888bb91d0f625814216dbdb3366a	It shows similarities to Bardet-Biedl syndrome and @DISEASE$, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the @PHENOTYPICFEATURE$, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', polydactyly and small penis without testicular anomalies.	has_symptom
+890d2254353406ed01674c8836b960aa983b4ae9	It shows similarities to @DISEASE$ and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, @PHENOTYPICFEATURE$, 'mottled retina', polydactyly and small penis without testicular anomalies.	false
+202c75184e0e1974c81531461e76dc13430f166a	It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the @DISEASE$, the lack of characteristic facies, skin or gingival infection, @PHENOTYPICFEATURE$, 'mottled retina', polydactyly and small penis without testicular anomalies.	false
+b0be1d324aa96518760c3f11275edabb780ed48d	It shows similarities to @DISEASE$ and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', @PHENOTYPICFEATURE$ and small penis without testicular anomalies.	false
+fe271f94186602e8be260b1b0b9310ff1ae8c8c4	It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival @DISEASE$, microcephaly, 'mottled retina', @PHENOTYPICFEATURE$ and small penis without testicular anomalies.	false
+692a3e4169899e5011e218afdfb71196c0e5f5f7	It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival @DISEASE$, @PHENOTYPICFEATURE$, 'mottled retina', polydactyly and small penis without testicular anomalies.	false
+b40f548c9808b9e2fbfd59c2295b49ac539d849e	It shows similarities to Bardet-Biedl syndrome and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the @DISEASE$, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', @PHENOTYPICFEATURE$ and small penis without testicular anomalies.	false
+4f3b5c1caa46babafe382ad14fa569b20c54567a	It shows similarities to Bardet-Biedl syndrome and @DISEASE$, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', @PHENOTYPICFEATURE$ and small penis without testicular anomalies.	false
+19289e7a0d02f0fd4016f64e076b39d81c20fbbc	It shows similarities to Bardet-Biedl syndrome and @DISEASE$, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, @PHENOTYPICFEATURE$, 'mottled retina', polydactyly and small penis without testicular anomalies.	false
+d8f4b177090ab77a56612a8f36332556a71030af	@DISEASE$ in an adolescent with chronic metabolic acidosis, @PHENOTYPICFEATURE$, and psychosis.	has_symptom
+c33b074277b890afd4dc8bbf02228a3142b700a9	@DISEASE$ (AML-M3) is a form of acute leukemia that presents with a less dramatic leukocytosis, @PHENOTYPICFEATURE$, and thrombocytopenia than other acute leukemias.	has_symptom
+bf607580207550532341ee00f6121fd970890c2d	@PHENOTYPICFEATURE$ is an encapsulated @DISEASE$ that is distinct from neurofibromatosis.	false
+1c1fd3ecbb6b3767211e0c39115690d6b40fae6a	@PHENOTYPICFEATURE$ is an encapsulated nerve sheath tumor that is distinct from @DISEASE$.	false
+6112ee7e9bd0be10fb3f4cc31386539aeec6d872	The cure rate of the neurofibromas with @DISEASE$ (NF1) and the @PHENOTYPICFEATURE$ without NF1 were 42.9% and 85.0%, respectively (P = 0.005).	has_symptom
+a9bc2613930f1c5ce64aa068f14d9b9eeb3cf6f5	The cure rate of the @PHENOTYPICFEATURE$ with @DISEASE$ (NF1) and the neurofibromas without NF1 were 42.9% and 85.0%, respectively (P = 0.005).	has_symptom
+1452fbb58acb25caf60c12c0d4475ec7c8404f4b	The efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic @PHENOTYPICFEATURE$ in @DISEASE$ type I (NF-1) is unknown.	false
+c3e788f6d426a0b0cbd0accf3e0132569097695d	Does spinal deformity correction of non-dystrophic scoliosis in @DISEASE$ type I with one-stage posterior pedicle screw technique produce outcomes similar to adolescent idiopathic @PHENOTYPICFEATURE$?	false
+e58bdb33758c73e0c84ab85cd0b214c7ce4f4250	Does spinal deformity correction of non-dystrophic @PHENOTYPICFEATURE$ in @DISEASE$ type I with one-stage posterior pedicle screw technique produce outcomes similar to adolescent idiopathic scoliosis?	false
+58d81a802e44c855d40386e8b231aff7ce12d4f9	Neurofibromatosis-related @DISEASE$: two cases with large @PHENOTYPICFEATURE$ and elevated plasma methoxytyramine.	false
+9d435b2614924af85776d2d8c9936086d2f594b6	@DISEASE$-related phaeochromocytoma: two cases with large @PHENOTYPICFEATURE$ and elevated plasma methoxytyramine.	false
+7bdb16d84a66ab9127ddb50e43b5aa016f035595	Amyotrophic lateral sclerosis (@DISEASE$) involves motor neuron degeneration, @PHENOTYPICFEATURE$, paralysis, and death.	has_symptom
+839e7da12a2b958d71a61cf777e7e1abf3f8b0d1	@DISEASE$ (ALS) involves motor neuron degeneration, @PHENOTYPICFEATURE$, paralysis, and death.	has_symptom
+4086763ef098f654264159619e48dad462af2816	Clinically, @DISEASE$ presents with fasciculations, progressive weakness, @PHENOTYPICFEATURE$, and spasticity.	has_symptom
+1e6d68ea39f17a6e5b1c34972bdb2138581b19f8	Clinically, @DISEASE$ presents with fasciculations, progressive weakness, muscle atrophy, and @PHENOTYPICFEATURE$.	false
+be95978b265a26f2a636abc42adce906146405fe	Clinically, ALS presents with fasciculations, progressive weakness, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8a84cffc2fda1a6c3cb0a95d5180972914f892be	Amyotrophic lateral sclerosis (@DISEASE$) leads to progressive neurodegeneration and @PHENOTYPICFEATURE$ (NMA).	has_symptom
+f94baabf877ffceab2b3d0ae37c49d1ce7467ee5	@DISEASE$ (ALS) leads to progressive neurodegeneration and @PHENOTYPICFEATURE$ (NMA).	has_symptom
+87054278d3ddac3b90e99faad69cc68b25aa7139	Amyotrophic lateral sclerosis (@DISEASE$) is a neuromuscular disease characterized by progressive @PHENOTYPICFEATURE$.	has_symptom
+f88b6464210b223ff7e2081a7486b0d296c5d970	@DISEASE$ (ALS) is a neuromuscular disease characterized by progressive @PHENOTYPICFEATURE$.	has_symptom
+499be6312ec3c2195b0d1c0e4c12456a333d9d53	@DISEASE$ (ALS) is a motor neuron disease characterized by serious @PHENOTYPICFEATURE$ and weakness.	has_symptom
+33cf60f4bb379139c86a9016949b49fd9d3fb8d6	Amyotrophic lateral sclerosis (@DISEASE$) is a motor neuron disease characterized by serious @PHENOTYPICFEATURE$ and weakness.	has_symptom
+749a4b6d8001207c0ccf463c18668dc9b706afda	@DISEASE$ (ALS) is characterized by motoneuron (MN) degeneration, generalized weakness, and @PHENOTYPICFEATURE$.	has_symptom
+faa748dd4ff76ae8f71b3f057ea0b470a6ca1c29	Amyotrophic lateral sclerosis (@DISEASE$) is characterized by motoneuron (MN) degeneration, generalized weakness, and @PHENOTYPICFEATURE$.	has_symptom
+3fc8af54de0e85dcf1a6a75409acef01db530641	@DISEASE$ (ALS) is an adult-onset neuromuscular degenerative disorder characterized by motor neuron death and @PHENOTYPICFEATURE$.	has_symptom
+114281b64cec69867659f55ad7b254b17624a73a	Amyotrophic lateral sclerosis (@DISEASE$) is an adult-onset neuromuscular degenerative disorder characterized by motor neuron death and @PHENOTYPICFEATURE$.	has_symptom
+bbce6396a366d2eb0f99f61a808da99628d2cb2d	Neuronal NOS is dislocated during @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+cf6c563a90791f703f1804adde45664e77ea73b8	However, significant @PHENOTYPICFEATURE$ was observed in @DISEASE$ II animals.	has_symptom
+20e84ace16b4a96e9d8b6c534ed61d8e9cdf999b	These patients with their peculiar pattern of @PHENOTYPICFEATURE$ seem to have ALS or a subtype of @DISEASE$.	has_symptom
+1ecb0c426886d1beb9aa8e8a2c323c00dcf6f08b	These patients with their peculiar pattern of @PHENOTYPICFEATURE$ seem to have @DISEASE$ or a subtype of ALS.	has_symptom
+e2ec594b2ee9cf200d2eb06f386f56c93b579205	Spina bifida, @PHENOTYPICFEATURE$, exencephaly and @DISEASE$ were also observed frequently.	false
+f3c9b034ef9849f7599d4b5333fbbd45fc54230c	@PHENOTYPICFEATURE$, club foot, exencephaly and @DISEASE$ were also observed frequently.	false
+6906060a0a41cdb0d7386a71dea9babbbe3d6195	@DISEASE$ (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, @PHENOTYPICFEATURE$, skeletal myopathy, and 3-methylglutaconic aciduria.	has_symptom
+af7946338fd73564b4812355361692e2c7794117	Barth syndrome (@DISEASE$) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, @PHENOTYPICFEATURE$, skeletal myopathy, and 3-methylglutaconic aciduria.	has_symptom
+99819b8aa7b06a5521079f7b93516734003203f1	@DISEASE$ (MIM 302060) is an X-linked condition that includes dilated cardiomyopathy, neutropenia, @PHENOTYPICFEATURE$, abnormal mitochondria, and 3-methylglutaconic aciduria.	has_symptom
+91be87261078380ee4347e0356a2b5f17af2ff36	Histologically the @PHENOTYPICFEATURE$ appeared to be a @DISEASE$.	has_symptom
+9b065e416c418d80e999a87d126589e9f483c840	The @PHENOTYPICFEATURE$ was excised and histologically confirmed to be a @DISEASE$.	has_symptom
+10d8382d087d6ba9c80fb003de8e6476a7fcdd27	The incidence of @DISEASE$ is about 0.5% of all intracranial @PHENOTYPICFEATURE$, but choroid plexus papilloma in the third ventricle is rare.	has_symptom
+bf0ac4d64eef0a3943299d42d62b67c24ec770fd	The incidence of choroid plexus papilloma is about 0.5% of all intracranial @PHENOTYPICFEATURE$, but @DISEASE$ in the third ventricle is rare.	has_symptom
+2c45e501fdc5b9f1e18ca87a1ec87bb564d6143f	Total @PHENOTYPICFEATURE$ removal was achieved and the histology showed @DISEASE$.	has_symptom
+d7c1649d2649be3b1f777c39e27ecff50ad42bd0	Histological examination proved the @PHENOTYPICFEATURE$ was a @DISEASE$ without malignancy.	has_symptom
+45274f9c3c66508cdf979c6336aaf14030d2f308	Histopathology confirmed it to he @DISEASE$, which is a rare CP angle @PHENOTYPICFEATURE$.	has_symptom
+5a3ab38cb17a1c1995abcacc9b11f8ea4428617e	Histologically the @PHENOTYPICFEATURE$ was found to be @DISEASE$.	has_symptom
+47b793cc44f9a885a1137af10b56f1e5e14ced4b	@DISEASE$ is a rare intracranial @PHENOTYPICFEATURE$.	has_symptom
+d6692a003b8d81e227987e3169b659336226e98f	Pathological examination of the @PHENOTYPICFEATURE$ revealed a typical @DISEASE$.	has_symptom
+6f242a400594c9bf8cb0aac73a8738fde4f92b49	Thus, @PHENOTYPICFEATURE$ was the rare benign oncocytic variant of @DISEASE$.	has_symptom
+2d7a7bfe023d7af08dfca8b4269218aaf4761ecb	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or @DISEASE$ (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+d58e7b6287398086e710ebbd335f5ad09ec046a5	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic @PHENOTYPICFEATURE$ (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or @DISEASE$ (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.	false
+309b4d98701f91fa5f55db031bd78526561e38e5	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or @DISEASE$ (OMIM 220500) that is characterized by @PHENOTYPICFEATURE$, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.	false
+9071c4067316d088f4db06dd57b24704c9bfea01	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with @PHENOTYPICFEATURE$, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and @DISEASE$.	false
+69fc82e2f0e3dc1a985783d7b1ec0602ce4c5a0c	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or @DISEASE$ (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), @PHENOTYPICFEATURE$, and seizures.	false
+2a06cbe9a491a530ec0167fbbe8af90b6487f99a	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic @PHENOTYPICFEATURE$ (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and @DISEASE$.	false
+825b409446d2251297d33dd9045dc5763a5fb0ab	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with @PHENOTYPICFEATURE$, or @DISEASE$ (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.	false
+2e88854c5fad932ee2fc6a67ac919a1975565348	At present, it is unknown how different mutations of TBC1D24 cause non-@DISEASE$ deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by @PHENOTYPICFEATURE$, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.	false
+9a9373c9d53eb9c3425556b47446a5ca5a7e5206	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by @PHENOTYPICFEATURE$, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and @DISEASE$.	false
+bfc8481200430d77ecf2cd20167ae1194e11f9cf	At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1c051010671b2a1f9113a8d833999bf54dd9583e	At present, it is unknown how different mutations of TBC1D24 cause non-@DISEASE$ @PHENOTYPICFEATURE$ (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.	false
+359bbab0075e633bc95aeb0da503050b462eefcd	At present, it is unknown how different mutations of TBC1D24 cause non-@DISEASE$ deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), @PHENOTYPICFEATURE$, and seizures.	false
+44267889772f990ac6ce87e2ff9e782a49d69034	At present, it is unknown how different mutations of TBC1D24 cause non-@DISEASE$ deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with @PHENOTYPICFEATURE$, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures.	false
+0c94c41e5ab6eb24c30093a66b2717c20c43bd78	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, @PHENOTYPICFEATURE$).	has_symptom
+1f7b216f28dd568a3ed3395a2a17cc4ed1704593	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, seizures).	false
+b1ff8fe75f2ba069ba17323a0c8c3c499e0c6a8d	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, @DISEASE$).	false
+609b9131b106138e5ecb7d98d1f63b1671d712c7	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, @DISEASE$).	false
+cc0b4689059557b5df901a9a8d138efdff34b587	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @PHENOTYPICFEATURE$, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures).	false
+7562c8201e210795bcbd58a2769105fc7d7bcbe7	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic @PHENOTYPICFEATURE$, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, @DISEASE$).	false
+9e3d2fd5766c470acfebcf51b03cb5550d093285	Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or @DISEASE$ (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, seizures).	false
+6b724a9978aecf3064452e1d89594bbcb8814410	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and @PHENOTYPICFEATURE$ (@DISEASE$), and a wide range of epileptic disorders.	has_symptom
+39b88eae92a640adca4dc0bcd6224fe3047ee9ae	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic @PHENOTYPICFEATURE$ associated with onychodystrophy, osteodystrophy, mental retardation, and @DISEASE$ (DOORS syndrome), and a wide range of epileptic disorders.	false
+ed1814b88cf0853c4fc910456097bc2f5d8e6f3b	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, @DISEASE$ hearing impairment associated with onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures (DOORS syndrome), and a wide range of epileptic disorders.	false
+403820cf592dea72000dcc8c2accb3ad251b71d2	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures (@DISEASE$), and a wide range of epileptic disorders.	false
+3a9fab31734022b9144e65cb903492307403c18b	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, @DISEASE$ @PHENOTYPICFEATURE$ associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders.	false
+d6f122dd2438579d2197bf1c25a99c86983a4c7e	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and @DISEASE$ (DOORS syndrome), and a wide range of epileptic disorders.	false
+e1c3444957d9df539586af9dd13116871d72fde6	Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic @PHENOTYPICFEATURE$ associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (@DISEASE$), and a wide range of epileptic disorders.	false
+e82ffa22e588d497b076971d34e736a24c4c3431	The patient was among a subset of @DISEASE$ patients without @PHENOTYPICFEATURE$ in infancy.	has_symptom
+c8ead6768eb5b4730131262bcf6c4a86aea0d09c	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the @DISEASE$: deafness, onychodystrophy, osteodystrophy, intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+92d44da64c9a43a27343a18d724abd7f589b7f41	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: @PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, intellectual disability, and @DISEASE$.	false
+56f51610a15af470648873196cb0a40c6fff8861	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the @DISEASE$: deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures.	false
+c39992d9fcd86e8f4a079103c1136c9456797579	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the @DISEASE$: @PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, intellectual disability, and seizures.	false
+0f8503ad5c85ea881bb5ad68c8ab95ff982899e9	Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ea16a7719ba3becf743cab05d2e851a839ad013b	Thus, individuals with @DISEASE$ without deafness and @PHENOTYPICFEATURE$ but with the other features should still be screened for TBC1D24 mutations.	has_symptom
+9d18e3b492316153441db216d5e2a16feea1b7bb	Thus, individuals with DOORS syndrome without @PHENOTYPICFEATURE$ and @DISEASE$ but with the other features should still be screened for TBC1D24 mutations.	false
+1883f50f6838f01502473bb8a5b1d58e7c401a13	Thus, individuals with @DISEASE$ without @PHENOTYPICFEATURE$ and seizures but with the other features should still be screened for TBC1D24 mutations.	false
+f1521098acd6dfba700e8bfc5eb9e6430c450b47	Of the 18 individuals with @DISEASE$ from 17 families without TBC1D24 mutations, eight did not have @PHENOTYPICFEATURE$ and three did not have deafness.	has_symptom
+baa65925a312ddbde2e7b012efd06cecd6f5f467	Of the 18 individuals with DOORS syndrome from 17 families without TBC1D24 mutations, eight did not have @DISEASE$ and three did not have @PHENOTYPICFEATURE$.	false
+19bbb2cefc9e619c3303273ab6932905e1c4d869	Of the 18 individuals with @DISEASE$ from 17 families without TBC1D24 mutations, eight did not have seizures and three did not have @PHENOTYPICFEATURE$.	false
+bc8c93518e50bfd1350caf3c10cb7352c9e271ba	More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various @PHENOTYPICFEATURE$ types and severity, non-syndromic deafness, and @DISEASE$.	has_symptom
+1b9c77b106b0ec456a35a04c3b985653e1919176	More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-@DISEASE$ @PHENOTYPICFEATURE$, and DOORS syndrome.	false
+a0a9038093c7b84d59da50363c6ece796b580e86	More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various @DISEASE$ types and severity, non-syndromic @PHENOTYPICFEATURE$, and DOORS syndrome.	false
+87b0e09c8d9373aef7958eabb2f6f75e954a19b0	More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8301058c79cb23e5015eccd53f1c5fe9caefc697	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @PHENOTYPICFEATURE$.	has_symptom
+fcd5f36579053e45acb7c0a6558fdbd2dc817273	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, @PHENOTYPICFEATURE$) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	has_symptom
+b0d737a7cc6f6a4b37062a3241a1e149f0daa0f4	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, @DISEASE$) is characterized mainly by @PHENOTYPICFEATURE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+9fcdcbeed683f7a727ab4a8356dbd644b31c958c	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by @PHENOTYPICFEATURE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @DISEASE$.	false
+537c892c6dba664bd11aa84eec3e6953800d5bdf	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by @PHENOTYPICFEATURE$, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+4d807174bdfcbf7e62325fe891160383d72e878e	@DISEASE$ (Deafness, Onychodystrophy, Osteodystrophy, @PHENOTYPICFEATURE$, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+997696b4012375c7a48d2545cc7cb999d0fd50cd	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, @PHENOTYPICFEATURE$, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and @DISEASE$.	false
+5a495a3c0dba143ec7f41305c39611984c93c172	DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, @PHENOTYPICFEATURE$, @DISEASE$) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures.	false
+9b9ddcb1906d2a270be230e69af95807d884dd81	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and @PHENOTYPICFEATURE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	has_symptom
+b3e2f6321cb7ef44a9967a097d67af88d778c591	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and @PHENOTYPICFEATURE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	has_symptom
+66f13055d756a95d738b960249f2917baf88917a	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and @DISEASE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @PHENOTYPICFEATURE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+40050ec68e48085bbaa6779f082a50b91e376f1a	Two of them had a clinical diagnosis of DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and @DISEASE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+06fa2ad74630b878c1702fd17e1266ee3e689019	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @PHENOTYPICFEATURE$, and @DISEASE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+53a0603ccf46716b07a08e67196f18192c461c6c	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and @DISEASE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+fc4a9a02a79480c893b08b47391586de13fe9b7a	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and @DISEASE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+fc64e1ff59a08585dcb96789b2b102f28c2a47b8	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and @DISEASE$; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+840226d22e37d43e2fd8cf9fb716128d30b25dbe	Two of them had a clinical diagnosis of DOORS syndrome (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and @DISEASE$), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+e1e24549370d9947b1a128b9472f6c53a0a0d693	Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and @DISEASE$), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+9124710d4092b73f292a465065c989ee81046fb2	Two of them had a clinical diagnosis of @DISEASE$ (@PHENOTYPICFEATURE$, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+b2b27ad4953888c1f2d63e4dc07627ba1b945888	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes @PHENOTYPICFEATURE$, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+667bab70f0dbdf418c832e7da4f8dfa937a27638	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, @PHENOTYPICFEATURE$, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+a9dea030ffd1d0b85e401c405497538804a79ad7	Two of them had a clinical diagnosis of @DISEASE$ (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, @PHENOTYPICFEATURE$, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency.	false
+c64b0a58748517f3b1176e7145a536ffb850ca63	Among those, @DISEASE$ (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked dysarthria and @PHENOTYPICFEATURE$.	has_symptom
+ad15b4c52b29ccdf1836beb5216c54a47933cc49	Among those, chorea-acanthocytosis (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3216bc89c30fb051d2de37411ad9432fa795a1f2	Among those, @DISEASE$ (ChAc) is the most frequent form, manifested by predominant orofacial dyskinesias associated with marked @PHENOTYPICFEATURE$ and dysphagia.	false
+b8aacc9c0dff25ec3d6b12423a77c99b5d5c3713	Here, a classic case of @DISEASE$ is reported that exhibited gradually deteriorating abnormal movements of limbs and face, @PHENOTYPICFEATURE$, and lip and cheek biting for the past two years.	has_symptom
+af1053960572af705c8ffddbd404b704501543c5	IL1RAPL1 is associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$ who have deletions extending telomeric of DAX1.	has_symptom
+96f06ee268949ff5278091b26954c65fc2cb8874	Xp21 continuous gene deletion syndrome is characterized by @DISEASE$ (GK), adrenal hypoplasia congenital (NROB1), @PHENOTYPICFEATURE$ and/or Duchenne muscular dystrophy (DMD).	has_symptom
+44d228627054bd3f037ad70d6c93a8b456d05fe0	Developmental retardation and @PHENOTYPICFEATURE$ occur often with @DISEASE$.	has_symptom
+c1219f0e0fdfc4436e8a7dde23e99ed82043f9a6	Other clinical findings in the @DISEASE$ (CGKD) patients are @PHENOTYPICFEATURE$, short stature, and hypogonadotropic hypogonadism.	has_symptom
+a7756dbfe4606d6dde8ece7b84cc73bf1523a79c	Other clinical findings in the @DISEASE$ (CGKD) patients are mental retardation, short stature, and @PHENOTYPICFEATURE$.	false
+6f6ab8241a10facd2923fac27dec91f01f44d136	Other clinical findings in the @DISEASE$ (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+17a518dcebb4685fca1b7c53f3c476f8f26e537c	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+ecda83fd1ef3f5ac516e077632a4a830a8cae3e0	Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are @DISEASE$, short stature, and @PHENOTYPICFEATURE$.	false
+afcee879a4829733cee47a3df845cccfcdd90145	Clinical experience has suggested that patients with the contiguous gene syndrome, @DISEASE$ (cGKD), will have @PHENOTYPICFEATURE$ (MR) if they have deletions extending from the GK gene into the DMD gene and/or involving a significant extension telomeric from DAX1.	has_symptom
+f317af6af66e4da0a6b59c76ca11c07c3f180c41	Five of the infants who died had associated disorders such as @DISEASE$, @PHENOTYPICFEATURE$, necrotizing enterocolitis, and respiratory distress syndrome.	has_symptom
+5f75dabb6f730e3e5b8754b6b708d163badb5306	A 40-year-old man presented with visual failure and disconnection @PHENOTYPICFEATURE$ (830 mU/liter) due to a large invasive pituitary tumor shown to be a @DISEASE$ (pilocytic astrocytoma).	has_symptom
+d10d92972851d0cc242d8ffacf3a6db6b306d30b	During the follow-up period (median 297 days, range 3 to 761), 7 patients (5 with monoclonal immunoglobulin light-chain amyloidosis and 2 with @DISEASE$) died or were admitted to the hospital because of worsening @PHENOTYPICFEATURE$.	has_symptom
+d86ce6291cc5176e5c22fc09bb00a79c407f091e	@DISEASE$ is a rare disease with a common clinical presentation that is probably underdiagnosed in patients with @PHENOTYPICFEATURE$ with preserved systolic function.A new unexplained heart failure diagnosis, increased ventricular wall thickness and particularly low voltage on the ECG should raise the suspicion of cardiac amyloidosis.Histopathological evidence of amyloid deposition elsewhere and typical advanced imaging features can support the diagnosis, rendering endomyocardial biopsy no longer mandatory.	has_symptom
+4bd3ca4c4f078f86e76fb8616bd711d2156e0fa7	@DISEASE$ (ATTR-wt) is characterized by the accumulation of amyloid in the heart, leading to fatal @PHENOTYPICFEATURE$ and arrhythmia.	has_symptom
+6c1288f89462bda6390668e0b7714552af4be5c8	@DISEASE$ (ATTR-wt) is characterized by the accumulation of amyloid in the heart, leading to fatal heart failure and @PHENOTYPICFEATURE$.	false
+aa3be044b73a4b10507e8317bf31ab738c52fcf0	Wild-type ATTR amyloidosis (ATTR-wt) is characterized by the accumulation of amyloid in the heart, leading to fatal @DISEASE$ and @PHENOTYPICFEATURE$.	false
+80af8fcbc667d2e1663410e3200331490d884dd0	@DISEASE$ (SSA) is a main cause of intractable @PHENOTYPICFEATURE$ in elderly individuals.	has_symptom
+5abf32b6c219152c53138fca104d5a0a67b85345	@DISEASE$ presenting with @PHENOTYPICFEATURE$: a comparison with light chain-associated amyloidosis.	has_symptom
+cd1ebd8dfcc296311d64b72f75aeb796de223ffc	However, extensive deposition of transthyretin-derived amyloid fibrils in the heart (@DISEASE$ [SSA]) can cause @PHENOTYPICFEATURE$.	has_symptom
+9a3c09fe8468825aafd6ef9f9194dfb39ae51491	@DISEASE$ may present as a clinical triad of lumbar stenosis, carpal tunnel syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+261160d67b08e2743aba551947e6370dcf711bda	However, only a few cases of patients with @DISEASE$ and @PHENOTYPICFEATURE$ have been recognized by cardiac biopsies during life.	has_symptom
+fbfad011e6d8834e95f4aaf0e334eef07116c329	@DISEASE$ (NF1) is a multisystem genetic disease which is characterized by cutaneous findings, most importantly caf?-au-lait spots and axillary freckling, by @PHENOTYPICFEATURE$, and by the growth of both benign and malignant nervous system neoplasms, most notably benign neurofibromas.	has_symptom
+e75d680c8abc215aa0c0f65b79a6dae5c5b3c0b6	Neurofibromatosis type 1, an autosomal dominant inherited disease, presents pathologic symptoms of multiple systems, including @DISEASE$, @PHENOTYPICFEATURE$, caf?-au-lait spots in skins, and so on.	has_symptom
+05dea311957d9c2da7324625386aee17591ad5f9	@DISEASE$, an autosomal dominant inherited disease, presents pathologic symptoms of multiple systems, including neurofibromatosis, @PHENOTYPICFEATURE$, caf?-au-lait spots in skins, and so on.	has_symptom
+96464a4a22cae36fd0aaac0913e91b2ff7b7701d	We present a case of a 10-year-old girl with @DISEASE$ related @PHENOTYPICFEATURE$.	has_symptom
+beb619474a5c7aeb87a7cacc0a2646cfceafe466	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset @PHENOTYPICFEATURE$, spastic-ataxia, spastic paraplegia, demyelinating @DISEASE$ and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+3785d520450bae2c757c3d7da184b0099aa95b93	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset @PHENOTYPICFEATURE$, spastic-ataxia, spastic @DISEASE$, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+8ae6f73feaf622c6fbe61f22911fee3a398629a5	SACS-gene related disorders have been associated with complex neurological phenotypes of early-@PHENOTYPICFEATURE$ cerebellar ataxia, spastic-ataxia, spastic @DISEASE$, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+72728648b5bd31515e7a994a304abad5526e2de6	SACS-gene related disorders have been associated with complex neurological phenotypes of early-@PHENOTYPICFEATURE$ cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating @DISEASE$ and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+a3905c61af1d67bde54bc750a1e70c13dd0362f0	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic @DISEASE$, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure @PHENOTYPICFEATURE$ phenotypes.	false
+c7008e13d8a8cae7584f6e934c4c307f35e4e618	SACS-gene related disorders have been associated with complex neurological phenotypes of early-@PHENOTYPICFEATURE$ cerebellar ataxia, @DISEASE$, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+dbedcb7b6daa224af9fb0028dfb8b5fbe75f7496	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset @PHENOTYPICFEATURE$, @DISEASE$, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+66882985021b1aa84b3e122fd54b152137e031a7	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, spastic-ataxia, spastic paraplegia, demyelinating @DISEASE$ and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure @PHENOTYPICFEATURE$ phenotypes.	false
+6e9718dac9e59b74e64d9a5f3b8ef44363c39804	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, @DISEASE$, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure @PHENOTYPICFEATURE$ phenotypes.	false
+50fc3c3c0efad5dc5f359aaab92cce7c0b6c31d1	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, @PHENOTYPICFEATURE$, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	has_symptom
+fb0ff8d12f7ed02799812301c5e97b94d3e02069	A 19-year-old woman presented with psychomotor retardation, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+bdb324b226694f65bf37295c97f74f08c98973c8	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+3471f72373c56a8acd5ed27631b902a05e1e9480	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, @DISEASE$, low body weight, general @PHENOTYPICFEATURE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+df34f5d414199cd68ad0b0654b1496b4ea7e4875	A 19-year-old woman presented with psychomotor retardation, developmental delay, @PHENOTYPICFEATURE$, short stature, low body weight, general muscle hypotonia, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+dd572a45cdb890f198b513a93f1a8f746e89cb20	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general @PHENOTYPICFEATURE$, distal muscle hypotrophy of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+0f446b20d94be9bdeb0a16dcd75c345d429195e9	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, @DISEASE$, low body weight, general muscle hypotonia, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of Pelizaeus-Merzbacher disease.	false
+14564c3899ff3c3df30e02d6e5fec80bd10ade93	@DISEASE$ (BTHS) is an X-linked autosomal recessive disorder characterized by neutropenia, cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+1c1bff81dd1d473557774d4437c65b6497afe237	Barth syndrome (@DISEASE$) is an X-linked autosomal recessive disorder characterized by neutropenia, cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+b67d216e5382504c3029c9506efc39f08d59c82f	@DISEASE$ (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and @PHENOTYPICFEATURE$.	has_symptom
+7b0e167a0eacac6136787e50a50bfc5d44ffd4fa	Barth syndrome (@DISEASE$) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and @PHENOTYPICFEATURE$.	has_symptom
+5c8cf7df92a276f40860d7a1f27605d285867fdf	@DISEASE$ presents in infancy or childhood with cardiomyopathy, hypotonia, @PHENOTYPICFEATURE$, and cyclic neutropenia.	has_symptom
+bafd44807a6ebfd12d70ca14f30e3cd605dbe1ca	Barth syndrome (@DISEASE$) is an X-linked disorder characterised by cardiomyopathy, skeletal myopathy, @PHENOTYPICFEATURE$, neutropenia and 3-methylglutaconic aciduria.	has_symptom
+f8abbb2d11cfbc4e31fff707a333e08e0f1fc029	@DISEASE$ (BTHS) is an X-linked disorder characterised by cardiomyopathy, skeletal myopathy, @PHENOTYPICFEATURE$, neutropenia and 3-methylglutaconic aciduria.	has_symptom
+02713a439b28df011f66ce07713fa8ccc64d34fd	Barth syndrome (@DISEASE$) is an X-linked disorder characterised by cardiomyopathy, neutropenia, skeletal myopathy and @PHENOTYPICFEATURE$.	has_symptom
+df49a0ccd4ae889abe655ae078bec0a3902451c8	@DISEASE$ (BTHS) is an X-linked disorder characterised by cardiomyopathy, neutropenia, skeletal myopathy and @PHENOTYPICFEATURE$.	has_symptom
+2fb79cae88fd72137924d5aa6af8a4be3e3a7ade	@DISEASE$ is an inherited disorder characterized by dilated cardiomyopathy, neutropenia, @PHENOTYPICFEATURE$, and skeletal myopathy.	has_symptom
+aab11853465ebd9c4c6ad9dd7e0d8766aa19678c	@DISEASE$ (BS) is an X-linked infantile-onset cardioskeletal disease characterized by cardiomyopathy, hypotonia, @PHENOTYPICFEATURE$, neutropenia and 3-methylglutaconic aciduria.	has_symptom
+d27928dea6af0e5fb4b29628ed357dacea4dfcf9	@DISEASE$ (BTHS) is an X-linked disorder characterized by skeletal myopathy, neutropenia, @PHENOTYPICFEATURE$, and cardiomyopathy.	has_symptom
+5bef210b673dc8fb51a716e4768a4310d4487160	Barth syndrome (@DISEASE$) is an X-linked disorder characterized by skeletal myopathy, neutropenia, @PHENOTYPICFEATURE$, and cardiomyopathy.	has_symptom
+4e2c903d1c742dc91a2ebf2f0a8bac27bfc00bd2	Barth syndrome (@DISEASE$) is an X-linked disorder characterised by cardiac and skeletal myopathy, @PHENOTYPICFEATURE$, neutropenia and 3-methylglutaconic aciduria (3-MGCA).	has_symptom
+63b01140ad3024045bee7b9b72b10d5da532ed3a	@DISEASE$ (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, @PHENOTYPICFEATURE$, neutropenia and 3-methylglutaconic aciduria (3-MGCA).	has_symptom
+76f80a8e2d0d05119df3a6eb14c8ab845e7661a2	Barth syndrome (@DISEASE$) patients carrying mutations in tafazzin (TAZ1), which is involved in the final maturation of cardiolipin, present with dilated cardiomyopathy, skeletal myopathy, @PHENOTYPICFEATURE$ and neutropenia.	has_symptom
+d0d52a6bd2d3f5771307449ceea640cb8899beac	@DISEASE$ (BTHS) patients carrying mutations in tafazzin (TAZ1), which is involved in the final maturation of cardiolipin, present with dilated cardiomyopathy, skeletal myopathy, @PHENOTYPICFEATURE$ and neutropenia.	has_symptom
+de05460fa13b9adb0f85083b48c69c59ae1caf7a	Obesity, @PHENOTYPICFEATURE$, hypotonia and excessive daytime sleepiness are characteristic features of the @DISEASE$.	has_symptom
+d5e7d311ff69b88bd465372d85727a5cfe5c1626	Hyperphagic @PHENOTYPICFEATURE$ and @DISEASE$: a comparison of behavioural phenotypes, genotypes and indices of stress.	has_symptom
+c9123a24c40e1cb4efd73f9c3afdbecbe073e83b	Approved pediatric indications include GHD, idiopathic short stature, children who were small for gestational age with short stature, Turner syndrome, @DISEASE$, @PHENOTYPICFEATURE$ homeobox-containing gene deficiency, Noonan syndrome and chronic renal insufficiency.	has_symptom
+a51a8794f7dcc8574fa1a4de3bf89df3c57f369e	Approved pediatric indications include GHD, idiopathic short stature, children who were small for gestational age with @PHENOTYPICFEATURE$, Turner syndrome, @DISEASE$, short stature homeobox-containing gene deficiency, Noonan syndrome and chronic renal insufficiency.	has_symptom
+7b6f3e27d021e24c57199f1495b2b15ae8ae54db	Approved pediatric indications include GHD, idiopathic @PHENOTYPICFEATURE$, children who were small for gestational age with short stature, Turner syndrome, @DISEASE$, short stature homeobox-containing gene deficiency, Noonan syndrome and chronic renal insufficiency.	has_symptom
+f1f94e1ba68a47e73ba3a3a0c1874cf5d6bdd9ce	Patients with @DISEASE$ (PWS) present with @PHENOTYPICFEATURE$ and obesity.	has_symptom
+392ec29d83feda075ef5943a3a1ce122c978c159	Patients with Prader-Willi syndrome (PWS) present with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+911de1318132dcde8b16e5966cefa5cd06a91af1	Patients with @DISEASE$ (PWS) present with short stature and @PHENOTYPICFEATURE$.	false
+d06fa819263c581292a5f059582481246106545d	Linear growth retardation and adult @PHENOTYPICFEATURE$ are usual characteristics of @DISEASE$.	has_symptom
+330c9d4e4b2e473e78c5cea40c9bd624fab2f639	Linear @PHENOTYPICFEATURE$ and adult @DISEASE$ are usual characteristics of Prader-Willi syndrome.	false
+d912e1d0a5ee22556831c44e7ee0581be455ddc8	Linear @PHENOTYPICFEATURE$ and adult short stature are usual characteristics of @DISEASE$.	false
+4a3a18f127fe621b6c786de418dfd5307aa3897d	@DISEASE$ (PWS) is characterized by hypotonia, hypogonadism, obesity, and @PHENOTYPICFEATURE$.	has_symptom
+46fe9ad73c6e6a5e8c8267b2a341c07dcdbe83f8	Prader-Willi syndrome (PWS) is characterized by hypotonia, hypogonadism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+713c5f8a13b7512c45512350e41f7981182e28aa	@DISEASE$ (PWS) is characterized by hypotonia, hypogonadism, @PHENOTYPICFEATURE$, and short stature.	false
+652e6b500665ffdba502ffb3d26869ea87120a2d	GH is efficacious in @PHENOTYPICFEATURE$ due to chronic renal failure and @DISEASE$.	has_symptom
+afe4317338a06461fa12b2958f89166ce8f8f145	Cataracts with obesity, @PHENOTYPICFEATURE$, oligophrenia, and acromicria (@DISEASE$).	has_symptom
+e42bde97c2f0089e85aaa28b5253fcaa9f39457d	Cataracts with @PHENOTYPICFEATURE$, @DISEASE$, oligophrenia, and acromicria (Prader-Labhart-Willi syndrome).	false
+a42557ed7859a94aa1d1dd330225a19bbad6299e	Cataracts with @PHENOTYPICFEATURE$, small stature, oligophrenia, and acromicria (@DISEASE$).	false
+d874693d5ec8d6b81b4bbf57c171e37c05b7168d	@PHENOTYPICFEATURE$ is characteristic of children with @DISEASE$ (PWS).	has_symptom
+44b1e673008dddb4c305b541342eb4b6cad1f54f	One-year results of growth hormone treatment of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+15d2474647349ce6c9a37c83bfbb1aa428e5e08e	A 74-year-old Caucasian woman showed a @DISEASE$ clinical phenotype with reactive depression, followed by @PHENOTYPICFEATURE$, akinetic-rigid Parkinsonism with pseudobulbar syndrome and gait impairment with motor apraxia, visuospatial disorientation, and evident frontal dysfunction features such as grasping, palmomental reflex and brisk perioral reflexes.	has_symptom
+e1e227818f8234515854a7b1c2199133a4500616	Cerebrospinal fluid NFL levels were quantified in nonprimarily neurodegenerative neurological and psychiatric diseases (n?=?122), mild @PHENOTYPICFEATURE$ (n?=?48), Alzheimer's disease (n?=?108), dementia with Lewy bodies/Parkinson's disease dementia (n?=?53), vascular dementia (n?=?46), frontotemporal dementia (n?=?41), @DISEASE$ (sCJD, n?=?132), and genetic prion diseases (n?=?182).	has_symptom
+6ee1bb12f34f79dc333e31e63d7e09f731ab2264	Her clinical symptoms, including rapidly progressing @PHENOTYPICFEATURE$, myoclonus, and periodic sharp wave complexes on electroencephalogram, could not be distinguished from typical @DISEASE$ cases.	has_symptom
+6b9aef97bbf14bc4e8b1b3a493fbc9a45586d1d0	@DISEASE$ (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, @PHENOTYPICFEATURE$ and progressive cerebral atrophy.	has_symptom
+b16439ab2e3f599489b77c8215dd55ff6c3f6df7	Asparagine Synthetase Deficiency (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital @DISEASE$, severe psychomotor delay, encephalopathy and progressive @PHENOTYPICFEATURE$.	false
+32114fce57b48be429412f5c1440da0f5ff0676e	Asparagine Synthetase Deficiency (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, @DISEASE$ and progressive @PHENOTYPICFEATURE$.	false
+aa70240da04002e4cb34de1fe64441b9eb8c6fe8	@DISEASE$ (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, encephalopathy and progressive @PHENOTYPICFEATURE$.	false
+c64e539f59dd0bf86e3348789ee876682925be9b	It is reported on a nine year old boy with the oligosymptomatic form of the @DISEASE$ de Morsier: congenital nystagmus with nearly complete loss of visus due to a hypoplasia of the opticus-nerve of both sides, @PHENOTYPICFEATURE$ (dwarfism) because of STH-deficiency and lack of the gonadotropins.	has_symptom
+0660e5717b5f372e12e777eb4653f68a6188c7fe	The results revealed that exposure of fish to low (18?C) or high (32?C) temperatures for 30 days evoked significant @PHENOTYPICFEATURE$, depleted antioxidant enzymes activities (Catalase; CAT and super oxide dismutase; @DISEASE$), lipid peroxidation (malondialdehyde; MDA), immunosuppression, altered cortisol level compared to those reared at 24?C.	has_symptom
+fd3f54663ac2c6f0fdd0853182fe5dc277c84633	The @DISEASE$ -- a highly lethal autosomal recessive syndrome of microcephaly, @PHENOTYPICFEATURE$, low birth weight, and joint deformities.	has_symptom
+bc479a18dbd6ae4190cf318dd522bccbdaee0fc4	The Bowen-Conradi syndrome -- a highly lethal autosomal recessive @DISEASE$ of @PHENOTYPICFEATURE$, micrognathia, low birth weight, and joint deformities.	false
+55fbef97b725280e6d6c524f3b64b2e79297fee8	The @DISEASE$ -- a highly lethal autosomal recessive syndrome of @PHENOTYPICFEATURE$, micrognathia, low birth weight, and joint deformities.	false
+7424df674922a5b81ef30b6372c526e9d7fca78f	The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of @PHENOTYPICFEATURE$, @DISEASE$, low birth weight, and joint deformities.	false
+47149fc55806fc50c7b7629f1bc92766dc09c96f	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical @PHENOTYPICFEATURE$, and continuous muscle fiber activity.	has_symptom
+43e7fa62366bc2dd6dd4bef65d12b2521ed8c55b	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical @PHENOTYPICFEATURE$, and continuous muscle fiber activity.	has_symptom
+bbbd6feeee9b4316482a8cd674bc7b3d2e4738c2	The Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @PHENOTYPICFEATURE$, muscle hypertrophy, clinical @DISEASE$, and continuous muscle fiber activity.	false
+dd667c3ec5b70ca89e98f751433914fc4c2f139c	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @PHENOTYPICFEATURE$, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+6d4939429db00bdaf59a5a45ea65caf14a2a9fe1	The Schwartz-Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical @DISEASE$, and continuous muscle fiber activity.	false
+51fa35da5b715c2979189a68c786febeabc3eba5	The Schwartz-Jampel syndrome (SJS) is a rare congenital @DISEASE$ of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+59733eb5da12d693a99fa7ad053b1565d15f955e	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+60c8cf7ae3fbcc934a8903602646580dd9f5fea3	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @PHENOTYPICFEATURE$, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+6ee295c3fd72b862012949d80ca14db4ad965443	The Schwartz-Jampel syndrome (SJS) is a rare congenital @DISEASE$ of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, @PHENOTYPICFEATURE$, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+6d5a3f847e0b018af15769e33b697c2ed0752bd3	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+897bc05a9a6dee28d19e4defe7afaf968df4f463	The Schwartz-Jampel syndrome (@DISEASE$) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	has_symptom
+0d6de54bcc5476cfd8b19a0ca3a8f78c3b50d5fd	The @DISEASE$ (SJS) is an autosomal recessive disorder of @PHENOTYPICFEATURE$, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	has_symptom
+5b6cfe3559326b5cd8939a117aaa5830ba2bf5bf	The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of @DISEASE$, @PHENOTYPICFEATURE$, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	false
+9a55087d3c0556f610f3d470783576948dd4d858	The @DISEASE$ (SJS) is an autosomal recessive disorder of myotonia, @PHENOTYPICFEATURE$, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	false
+ea24c3e416e72da6b1b401d349ddc1451e6b67d9	The Schwartz-Jampel syndrome (@DISEASE$) is an autosomal recessive disorder of myotonia, @PHENOTYPICFEATURE$, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum.	false
+cdda9c366b220cb7e478ade5cf82c948f10770dd	Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and Marden-Walker syndromes, they have a different mode of inheritance and lack @PHENOTYPICFEATURE$, one of the most characteristic findings of the @DISEASE$.	has_symptom
+df316b936292f44f6c37754f935ec83760aed0f9	Prenatal ultrasonic diagnosis of @DISEASE$ is possible, at least for the form with neonatal onset of @PHENOTYPICFEATURE$ and contractures.	has_symptom
+095c6f8046a4bdd4d6c2f07b5e6a6ce039c4134d	Prenatal ultrasonic diagnosis of Schwartz-Jampel syndrome is possible, at least for the form with neonatal onset of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3707bc853188c9ffbc025db98c631ae72b036c66	Prenatal ultrasonic diagnosis of @DISEASE$ is possible, at least for the form with neonatal onset of myotonia and @PHENOTYPICFEATURE$.	false
+9e309392b91835e93029461d691465f54005a8dd	@PHENOTYPICFEATURE$ and aortic atresia in @DISEASE$: survival analysis after stage I palliation.	has_symptom
+47240edf7d8a6d329fa1768876ba44ae1410b24c	Fourteen of 74 @DISEASE$ patients (19%) had @PHENOTYPICFEATURE$ and aortic atresia.	has_symptom
+08236b31637a345a130efa5402d9165fcca4b4da	Fourteen of 74 @DISEASE$ patients (19%) had mitral stenosis and @PHENOTYPICFEATURE$.	false
+4e81c76b7753c4227888d92e0d3f54d30646f388	Fourteen of 74 hypoplastic left heart syndrome patients (19%) had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c70cf7d1224781e70c16835a1c472c5d4fd859a3	Of 68 live born fetuses, 52 (76.5%) had @DISEASE$, 14 (20.5%) had critical aortic stenosis, and two (3%) had complex anatomy with @PHENOTYPICFEATURE$/atresia.	has_symptom
+9d7392dcc6051b67d73cad30ad8e157311435b41	The presence of ventriculocoronary arterial communication is seen exclusively in a subgroup of patients with an aortic atresia and @PHENOTYPICFEATURE$ variant of @DISEASE$.	has_symptom
+3752a3bbd72f99ce3d11070c07ccc9d49922ae58	@DISEASE$ (USH) is an autosomal recessive disease characterized by hearing loss, @PHENOTYPICFEATURE$, and occasionally vestibular dysfunction.	has_symptom
+c72d17cc7eb37c0fc3ad089209d5dc4e63967871	@DISEASE$ (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally @PHENOTYPICFEATURE$.	false
+00c0bd77feddd8c4836b0de462f43268cf7ac8af	Usher syndrome (USH) is an @DISEASE$ characterized by hearing loss, vision loss, and occasionally @PHENOTYPICFEATURE$.	false
+50ded6eef38bc4bc755aff882eb7575c8bf69fa7	Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, @DISEASE$, and occasionally @PHENOTYPICFEATURE$.	false
+ebaea4c25cbd82a4e1ea9ea8422010899bd4cc6f	Usher syndrome (USH) is an autosomal recessive disease characterized by @DISEASE$, vision loss, and occasionally @PHENOTYPICFEATURE$.	false
+d9e78ea1f3d0affbe440fe4d6ddceec04f694b49	@DISEASE$ is a heterogeneous group of autosomal recessive disorders that combines variably severe congenital neurosensory hearing impairment with progressive night-blindness and @PHENOTYPICFEATURE$ similar to that in retinitis pigmentosa.	has_symptom
+9c4c4d17c059eca2563652b1929e6910b886898f	@DISEASE$ is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing and @PHENOTYPICFEATURE$ until middle age.	has_symptom
+8cae4a3acec94c3a118deac07e5cfb069ab47e4d	@DISEASE$ (USH), the leading cause of hereditary combined hearing and @PHENOTYPICFEATURE$, is characterized by sensorineural deafness and progressive retinal degeneration.	has_symptom
+2144f87ca2c0fc7253c701e9a40e39f50857497e	@DISEASE$ (USH), the leading cause of hereditary combined hearing and vision loss, is characterized by @PHENOTYPICFEATURE$ and progressive retinal degeneration.	false
+e17db1caf8fe1b2092237cb252de33825eeef00c	Usher syndrome (USH), the leading cause of hereditary combined hearing and @DISEASE$, is characterized by @PHENOTYPICFEATURE$ and progressive retinal degeneration.	false
+d4ef0a897e43916bf8026c15dbcedfad6854162f	Usher syndrome (USH), the leading cause of hereditary combined hearing and vision loss, is characterized by @PHENOTYPICFEATURE$ and progressive @DISEASE$.	false
+c3819624f45603782845289269e3126144a8516b	Ongoing studies are enabling early diagnosis of @DISEASE$ in children who present with hearing loss, thus providing time to prepare for the onset of @PHENOTYPICFEATURE$.	has_symptom
+69681e452db22fcec6c607435b9264bc946cc490	However, the interrelationship between insulin, @PHENOTYPICFEATURE$, renal @DISEASE$ metabolism and sympathetic nerve activity in normotensive subjects (NT) still remains unclear.	has_symptom
+05080e20c279338704d7c609fe4af45bae85b682	Total anti-oxidation activity in serum (TAS) and superoxide dismutase (@DISEASE$) decreased with body mass index (BMI), and the value in the obesity group was the lowest; Malonaldehyde (MDA) of overweight @PHENOTYPICFEATURE$ was the largest.	has_symptom
+07f3e160c3d0973d874522707e8eb95dda4ec3a5	Management of Sphincter of Oddi Dysfunction (@DISEASE$) requires advanced techniques (endoscopic retrograde cholangiopancreatography via gastrostomy [GERCP]) after Roux-en-Y gastric bypass (RYGB) for @PHENOTYPICFEATURE$.	has_symptom
+fad1908d8bdbe807ec54afd0029b85e7b870dba5	These factors were interpreted as (1) "proatherogenic factor" with positive loadings of TC, LDL-C, apoB and TG; (2) "inflammatory factor" with positive loadings of hsCRP, fibrinogen and MDA; (3) "antiatherogenic factor" with positive loadings of HDL-C and apoA-I; (4) "@PHENOTYPICFEATURE$ factor" with positive loadings of weight and waist; and (5) "antioxidative status factor" with positive loadings of @DISEASE$ and age and negative loading of superoxide anion.	has_symptom
+4a6d99d04a86c891f528114d9f12b1f905042546	The aim of this study was to evaluate the levels of paraoxonase 1 (PON1), lectin-like oxidized LDL receptor-1 (LOX-1), antioxidant enzymes (superoxide dismutase (@DISEASE$), catalase (CAT), and glutathione peroxidase (GPx)), and lipid peroxidation processes in the course of @PHENOTYPICFEATURE$.	has_symptom
+eaebadbc7bfd7d4b9ed765aafd81de8ae8410843	Various forms of symptomatic and idiopathic epilepsy and other psychoneurological disorders (disorders of behavior and emotions, obsession-compulsion syndromes, stereotypias, aggression, compulsive ideas and movements, anorexia or hypothalamic @PHENOTYPICFEATURE$) coincident with one or more endocrine disorders such as precocious or delayed puberty, multihormonal pituitary deficiency, panhypopituitarism and secondary hypothyroidism were detected in 42 patients with suprasellar arachnoid cyst (7 patients), @DISEASE$ (8 patients), craniopharyngioma (15 patients), glioma of the optic chiasm in neurofibromatosis type 1 (NF-1) (12 patients).	has_symptom
+97c13606f920051a920e2dc544cac6a22be49818	Genetic polymorphisms of antioxidant enzymes CAT, GPX, and @DISEASE$ are involved in the etiology of @PHENOTYPICFEATURE$ and its principal comorbidities.	has_symptom
+d1af748249efdea15bc3a5b1c4bceb972e538dff	The phenotype of @DISEASE$ is highly variable; the clinical picture may include visual impairment, short stature, @PHENOTYPICFEATURE$ and sleep-wake inversion.	has_symptom
+bb0309ee68e6c39957f3ba3d07822a560cb00b9c	The phenotype of SOD is highly variable; the clinical picture may include visual impairment, @PHENOTYPICFEATURE$, @DISEASE$ and sleep-wake inversion.	false
+8dfc6c74178248d59e772bb2fbafc1496b2203fa	The phenotype of @DISEASE$ is highly variable; the clinical picture may include visual impairment, @PHENOTYPICFEATURE$, obesity and sleep-wake inversion.	false
+9e44ca79237f2fc518bda112636108c937f358a3	The phenotype of SOD is highly variable; the clinical picture may include @PHENOTYPICFEATURE$, short stature, @DISEASE$ and sleep-wake inversion.	false
+874197137c34f69c2324e7d46fa5e76ed6d84822	The phenotype of @DISEASE$ is highly variable; the clinical picture may include @PHENOTYPICFEATURE$, short stature, obesity and sleep-wake inversion.	false
+878f527bdde05e1078799dba12f760a3f89b42cf	Benefits of supplementation with a specific melon concentrate, enriched in superoxide dismutase (@DISEASE$), have previously been shown on the development of insulin resistance and inflammation in a nutritional hamster model of @PHENOTYPICFEATURE$.	has_symptom
+23daf967079ea8f85466d6fb22269920c6d32324	In @PHENOTYPICFEATURE$, incubation with @DISEASE$ and catalase attenuated PVAT-intact vessel contractility in the presence and absence of endothelium (p < 0.001).	has_symptom
+6b340bc5bcc819c55f5440e1a134ab1facf6692c	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of @DISEASE$ (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with @PHENOTYPICFEATURE$ and abdominal pain.	has_symptom
+665785b4eb0ae61da6328c029506cafbb25ba021	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, @PHENOTYPICFEATURE$, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with @DISEASE$ and abdominal pain.	false
+3b58abfec9f37820b565c3771f69ae4741ab826f	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of @DISEASE$ (recurrent attacks of fever, arthralgia and arthritis, @PHENOTYPICFEATURE$, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain.	false
+cac084223b7faddba3e390bae03834723f5e9198	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+42cf700a1ee5ecfec2de8ebd25996072aaf63af9	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of @PHENOTYPICFEATURE$, arthralgia and @DISEASE$, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain.	false
+f3f79a0b2673423565f859813b78261ee6a726a5	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and @DISEASE$, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and @PHENOTYPICFEATURE$.	false
+07c5296f5a51eadf0be1738d1c0a5b879b3bd6cf	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of @DISEASE$ (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and @PHENOTYPICFEATURE$.	false
+1acdf7b6bc8ab5c03fd53988a138423ede30a1b6	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of @PHENOTYPICFEATURE$, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with @DISEASE$ and abdominal pain.	false
+c7172f6d81f071eecd2006a3af2a0542dc0378bc	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and @DISEASE$, @PHENOTYPICFEATURE$, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain.	false
+cadd8570c16cfa1cf0548973439dfc62fd5e816a	Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of @DISEASE$ (recurrent attacks of @PHENOTYPICFEATURE$, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain.	false
+8f4bdfbc9d53ec33be51108512862804afc5f5db	Frequency of @DISEASE$ related clinical findings (fever, abdominal pain, @PHENOTYPICFEATURE$/myalgia, arthritis, chest pain and erysipelas-like erythema) was similar between the two groups.	has_symptom
+cdb22b95fe85af7018b43aad057f64731f568f13	Frequency of FMF related clinical findings (fever, @PHENOTYPICFEATURE$, arthralgia/myalgia, arthritis, chest pain and @DISEASE$-like erythema) was similar between the two groups.	false
+71d4a586ba92587a48b60307ba19dbee7b88e1e4	Frequency of FMF related clinical findings (fever, @PHENOTYPICFEATURE$, arthralgia/myalgia, @DISEASE$, chest pain and erysipelas-like erythema) was similar between the two groups.	false
+0ef0115452ec0ed60feca4abde5bb753a394b031	Frequency of FMF related clinical findings (fever, @PHENOTYPICFEATURE$, @DISEASE$/myalgia, arthritis, chest pain and erysipelas-like erythema) was similar between the two groups.	false
+5abe01003ff6ecc99c1f5a6ed5aca4506634abac	Frequency of @DISEASE$ related clinical findings (fever, @PHENOTYPICFEATURE$, arthralgia/myalgia, arthritis, chest pain and erysipelas-like erythema) was similar between the two groups.	false
+f3462741c48be099dc39c13509f7cdbc5b176a59	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with @DISEASE$ in 1994.	has_symptom
+148ad4019b85ceb4c6a0b49e9e2fa4605dbfcd32	Protracted febrile myalgia @DISEASE$ (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+1f3a69ced90f14f1fb5a988b3dfd895c58d61377	Protracted febrile myalgia @DISEASE$ (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+1ee2861e753d9a52690914b70de10d947a66e347	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, @DISEASE$, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+374cd3fff2b35c064aa05d662e03cea4018ab7b4	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, @DISEASE$, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+bb343b4e7b88ff301a0897b012a180c1dd0d8e60	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, @PHENOTYPICFEATURE$/@DISEASE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+4f1ccab79695e1cfa8682bdffcc7a6836c83444b	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, diarrhea, arthritis/@DISEASE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+d43f4851a8d9f0cddb3d8487289df89e4e80be6a	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with @DISEASE$ in 1994.	false
+3bce7a02c4395e9503c29d80691ceff7100d05a3	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with @DISEASE$ in 1994.	false
+0317303e5583f81f8e6ecf066009f133dbbe660b	PFMS is seen in only a small percentage of @DISEASE$ patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	has_symptom
+6b0fbdd9c6bb95123d0e83b2f8312ee7438ae533	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, diarrhea, arthritis/@DISEASE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+4b9d596e185e2886b93d1c94af49160a106e80f8	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, @PHENOTYPICFEATURE$/@DISEASE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+e262b294c7eafc99706ae458d1e44aac28ec5c15	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the @DISEASE$ and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+82b9359fb17ad36a1c359d417ea49d506fd8a6e3	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, @DISEASE$, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+31ab5bcc7832d7954a3fc09daf79c6b503fdbb9c	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the @DISEASE$ and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+4f9334cf90585fbb91874feec21cb5035a2684c7	PFMS is seen in only a small percentage of @DISEASE$ patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+be42ff6322708a14b73d54f231dd135ce287b805	PFMS is seen in only a small percentage of @DISEASE$ patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+dfcbafec0d30e76b427947c2d50a150762f99926	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, @DISEASE$, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+7c772ff72de54685ff55a650077917613ded5de1	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+3f8eb51869722bce56cb5c12cb379fd7822cd2a2	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation.	false
+a5bc3ddb2039236a8952eaf618d0aac78d31c520	@DISEASE$ (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and @PHENOTYPICFEATURE$.	false
+ce5b5ef525a7b6b5defe8ffc5e029d9b0139d739	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7beaea39652e078c8331d8ee830c71be0ec4360c	Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, laryngeal, and genitourinary malformations, @DISEASE$ and mental retardation.	false
+b441ca15bfef52efe17f5ba5bb0386a4623ed75d	@DISEASE$ (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and @PHENOTYPICFEATURE$, mental retardation, syndactyly, and urogenital defects.	has_symptom
+a2d6e58c58e576b067c08f85427250b4c0d5f203	Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and @DISEASE$, @PHENOTYPICFEATURE$, syndactyly, and urogenital defects.	false
+2fc7fce58547ff65eb3d6e9a3efeab6234236499	Fraser syndrome (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and urogenital defects.	false
+496d50f29c54ddea7a15262a2a8cd6e9361aab50	@DISEASE$ (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, @PHENOTYPICFEATURE$, and urogenital defects.	false
+6218bbc263659f0805de8dac85fe25f3338bd0fb	Fraser syndrome (FS) is a rare @DISEASE$ characterized by cryptophthalmos, laryngeal defects and oral clefting, @PHENOTYPICFEATURE$, syndactyly, and urogenital defects.	false
+943f2f0d07256ae1b0aa6e630649f6f239f5012e	@DISEASE$ (FS) is a rare autosomal recessive inherited disorder characterized by cryptophthalmos, laryngeal defects and oral clefting, @PHENOTYPICFEATURE$, syndactyly, and urogenital defects.	false
+fbaea7d3aea2c88a73c4c4c6bcd6146b0f54b67b	Fraser syndrome (FS) is a rare @DISEASE$ characterized by cryptophthalmos, laryngeal defects and oral clefting, mental retardation, @PHENOTYPICFEATURE$, and urogenital defects.	false
+ab29f6477bb311300d03ceda2c47ff161e9b1c18	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @PHENOTYPICFEATURE$, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	has_symptom
+0ce7056a6369e614378fac099d726f99e5d338b3	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, @PHENOTYPICFEATURE$ and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+746ea8affbbe0098213085d80306a1bb44a605d9	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and @PHENOTYPICFEATURE$) have been defined for the diagnosis of @DISEASE$.	false
+1ad592f8170ad0693580dbdb23b6c3417d7bc228	Four major characteristics (cryptophthalmos, syndactyly, @PHENOTYPICFEATURE$ and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @DISEASE$, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome.	false
+ae15d074f60991e378aa4924755a90851b3e7da6	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @DISEASE$, umbilical hernia, renal agenesis, @PHENOTYPICFEATURE$ and mental retardation) have been defined for the diagnosis of Fraser syndrome.	false
+c6c6f5af23f90591b244b909a05402709c32c49b	Four major characteristics (cryptophthalmos, @PHENOTYPICFEATURE$, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+6e023785a2360c22a29948c50fe488425135872e	Four major characteristics (cryptophthalmos, syndactyly, @PHENOTYPICFEATURE$ and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+14fe5daf2abf550e76b4c8b96268f4f819d701d9	Four major characteristics (cryptophthalmos, @PHENOTYPICFEATURE$, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @DISEASE$, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of Fraser syndrome.	false
+a05e3f100a54b6748f27654ccaaddd5b968347d8	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, @DISEASE$, umbilical hernia, renal agenesis, skeletal anomalies and @PHENOTYPICFEATURE$) have been defined for the diagnosis of Fraser syndrome.	false
+aebdd7b8bd492ba0209ab28102f4ffa1d99cbe4a	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @PHENOTYPICFEATURE$, renal failure, and neurologic symptoms comprise the cardinal features of @DISEASE$ and hemolytic uremic syndrome.	has_symptom
+0ff430e6be0875bc7f53f2f273afe0353132d020	Microangiopathic hemolytic anemia (MAHA), @DISEASE$, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+f4727be25d8d809d0972f403441e5f645a13c151	Microangiopathic @DISEASE$ (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+5f43e439ce1e77c57e680f3585f0844f67d1a015	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, @DISEASE$, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.	false
+22a60d471d29d8e977e2b265519b0af2d4c3355f	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of @DISEASE$ and hemolytic uremic syndrome.	false
+bee74ee70b1efb473d128d089253a77dca957dc6	Microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, @PHENOTYPICFEATURE$, and neurologic symptoms comprise the cardinal features of thrombotic thrombocytopenic purpura and @DISEASE$.	false
+ee4e64e6498d48407e49f4112aacf90049149bf2	The patient was diagnosed with @DISEASE$ (TTP) on the basis of thrombocytopenia, MAHA, renal dysfunction, @PHENOTYPICFEATURE$, and neurological abnormalities.	has_symptom
+4a4c35744ff7d46b71505856e9e25e7e2a849eef	The patient was diagnosed with thrombotic thrombocytopenic purpura (TTP) on the basis of @DISEASE$, MAHA, renal dysfunction, fever, and @PHENOTYPICFEATURE$.	false
+1b625968af574ea07d42137eba5751542f95961a	The patient was diagnosed with thrombotic thrombocytopenic purpura (TTP) on the basis of thrombocytopenia, MAHA, renal dysfunction, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+925ff25a8a2c378fe6139edfb049062bfb293efe	The patient was diagnosed with @DISEASE$ (TTP) on the basis of thrombocytopenia, MAHA, renal dysfunction, fever, and @PHENOTYPICFEATURE$.	false
+ffdd3f1e0d72f3e46b1278d2b793226d9a7ce006	@DISEASE$-hemolytic uremic syndrome (TTP-HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, @PHENOTYPICFEATURE$, central nervous system abnormalities, and renal dysfunction.	has_symptom
+97ebd1f48360886ab5821208fb7350f0466a0f2f	The pentad of thrombocytopenia, hemolytic anemia, mild renal dysfunction, neurologic signs, and @PHENOTYPICFEATURE$, classically characterizes the syndrome of @DISEASE$ (TTP).	has_symptom
+0576eb5a72ce91f1ca67b01cbb897bec5effd3c3	The pentad of thrombocytopenia, haemolytic anaemia, mild renal dysfunction, neurological signs and @PHENOTYPICFEATURE$, classically characterizes the syndrome of @DISEASE$ (TTP).	has_symptom
+562e74cae6707c614fc4dcda856d323d22ec7795	In view of microangiopathic haemolytic anaemia, @PHENOTYPICFEATURE$, renal insufficiency, neurological abnormality and thrombocytopenia, the patient was presumed to have developed @DISEASE$ (TTP).	has_symptom
+ff79171428e9994f40d603104c322ee5c044d0e5	In view of microangiopathic haemolytic @DISEASE$, fever, renal insufficiency, @PHENOTYPICFEATURE$ and thrombocytopenia, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+66bc1af4f36a987ba8e57ef7547eff1532c57434	In view of microangiopathic haemolytic anaemia, fever, renal insufficiency, @PHENOTYPICFEATURE$ and thrombocytopenia, the patient was presumed to have developed @DISEASE$ (TTP).	false
+03fb07e5d51bf6e1ce01b4bb9b9e335afe2aee9f	In view of microangiopathic haemolytic anaemia, fever, @DISEASE$, @PHENOTYPICFEATURE$ and thrombocytopenia, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+212d60bf9a31379b49eab093daad43af31de31be	In view of microangiopathic haemolytic anaemia, fever, renal insufficiency, @PHENOTYPICFEATURE$ and @DISEASE$, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+cad5351a120c67a231663416bae32d90234ff7d4	In view of microangiopathic haemolytic anaemia, @DISEASE$, renal insufficiency, @PHENOTYPICFEATURE$ and thrombocytopenia, the patient was presumed to have developed thrombotic thrombocytopenic purpura (TTP).	false
+aa8cdd77f25526e5d08e32108d8c7a05ea1e5971	Classic features of @DISEASE$ include thrombocytopenia, microangiopathic hemolytic anemia, acute kidney injury, @PHENOTYPICFEATURE$, and central nervous system involvement.	has_symptom
+89c59a531c5c44786f7ef5eccf9fd092a46efc81	Five days later, she developed a syndrome that was characteristic of @DISEASE$ with @PHENOTYPICFEATURE$, thrombocytopenia, microangiopathic hemolysis, renal impairment and neurological dysfunction in the form of confusion and coma.	has_symptom
+4a91e8d32a28a867f4a88497cdc43224a2873b0c	Clinical @DISEASE$ (TTP) is characterized by a pentad of microangiopathic hemolytic anemia, thrombocytopenia, neurological symptoms, renal involvement, and @PHENOTYPICFEATURE$.	has_symptom
+9459590b9e7da137fede4b1e1d897bb261b415e0	The patient was diagnosed @DISEASE$ (TTP) following pentad of clinical features: microangiopathic hemolytic anemia, thrombocytopenia, @PHENOTYPICFEATURE$ neurologic, and renal abnormalities.	has_symptom
+f26090f1e06b3288a9db95e428c4a62caec65198	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, ataxia, dysarthria, @PHENOTYPICFEATURE$, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	has_symptom
+9636b44db465b0a378e01a7c5fe574710a4308db	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, @PHENOTYPICFEATURE$, dysarthria, intellectual disability, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary @DISEASE$.	false
+24f88c2bdd21126905c063f4b7fcc71a92668890	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+5c9fd704936582d55c523f486f23ab98d5521871	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, @PHENOTYPICFEATURE$, dysarthria, @DISEASE$, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+b257892399505d7340fd5ba2c2e934d033f2c21b	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and @DISEASE$), DYT4 should not be categorized as a primary dystonia.	false
+45bd6e4a76b0f9533228ae806eb9faf97f32bc5a	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, @DISEASE$, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+56c1d04ab670ba23a0b1141480723c386035853f	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary @DISEASE$.	false
+668bca925e9825ed9a2dc8168689c695eff9f681	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, @PHENOTYPICFEATURE$, dysarthria, intellectual disability, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+4290220dacd590de29ebf705490c05afb54c7e5a	Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, @PHENOTYPICFEATURE$, dysarthria, intellectual disability, dysmorphic facial features, and @DISEASE$), DYT4 should not be categorized as a primary dystonia.	false
+c04c4c3a87b1773236d2a7ed033fba90ecb918c1	The proportions of NS, isolated @PHENOTYPICFEATURE$, acute nephritic syndrome, chronic nephritic syndrome, HBVGN, LN and @DISEASE$ changed significantly with aging.	has_symptom
+af74943b077a3ba701b453d891c2cb1135d39c0a	In the absence of factors known to affect CCT (@DISEASE$, Marfan syndrome, and aniridia), CCT is similar in eyes with pediatric @PHENOTYPICFEATURE$ and normal controls and increases after cataract surgery.	has_symptom
+82f922462ed6d4af8eb55dd512477606cf7b7822	In the absence of factors known to affect CCT (@DISEASE$, Marfan syndrome, and aniridia), CCT is similar in eyes with pediatric cataracts and normal controls and increases after @PHENOTYPICFEATURE$ surgery.	has_symptom
+e1f11247e21599aa79fbf7f89afdf6b834339fde	Early-onset @PHENOTYPICFEATURE$ and Alzheimer's disease occur with high frequency in @DISEASE$ (trisomy 21), the most common chromosome duplication in human live births.	has_symptom
+1304c890b2984d025e45cb5e58752b36fa931506	Retrospective case-file analysis was performed to identify patients with @DISEASE$ who underwent @PHENOTYPICFEATURE$ surgery between January 2002 and December 2012.	has_symptom
+5075c387ace671eba65cb8f7a1e12032fa496b08	Ocular problems as refractive errors, strabismus, accommodation, and @PHENOTYPICFEATURE$ are well known in children with @DISEASE$ (DS).	has_symptom
+02a20a835150fcef5f11eb9ab80cd8d2b3a2c754	Two pediatric and one @DISEASE$ patient underwent bilateral @PHENOTYPICFEATURE$ surgery under general anesthesia and intravenous sedation, respectively.	has_symptom
+ef668bd7bc242c302f39ab195a4647235bf29ea5	The incidence of strabismus, nystagmus and @PHENOTYPICFEATURE$ was also increased in subjects with @DISEASE$, especially in females.	has_symptom
+8a9cf85ea7e010abcf409ccee46b5587b2cbf8e2	These present data implicate AbetaPP in fiber cell formation and in early-onset @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2c56ba0ae885eab97d68166591dc27c02c03c988	In debilitated patients and special situations, such as pediatric @PHENOTYPICFEATURE$ and @DISEASE$ requiring general anesthesia it may be the ideal procedure.	has_symptom
+b5d0aef01eef6f0aef7645e74dbeb4dbe9276316	A myriad of ophthalmic disorders is associated with the phenotype of @DISEASE$ including strabismus, @PHENOTYPICFEATURE$, and refractive errors potentially resulting in significant visual impairment.	has_symptom
+227db742636323605a222e98f8ad4828978a61a9	A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, @DISEASE$, and refractive errors potentially resulting in significant @PHENOTYPICFEATURE$.	false
+83682de5466901e39efb271f1fa384f2e336aea9	A myriad of ophthalmic disorders is associated with the phenotype of @DISEASE$ including strabismus, cataracts, and refractive errors potentially resulting in significant @PHENOTYPICFEATURE$.	false
+7b98f8729febf0c8534fdb0677e550999c23b75f	A 26-year-old female with @DISEASE$ and a validated diagnosis of @PHENOTYPICFEATURE$ requiring surgery was examined in order to assess the degree of difficulty of endotracheal intubation.	has_symptom
+74680fc084d24a269784dc527be524f369402647	@DISEASE$: an autosomal recessive @PHENOTYPICFEATURE$ with cone shaped epiphyses in the hands and hips.	has_symptom
+1a4823a16c61f8a568963747ca9a5c956173f0aa	@DISEASE$ is a recently delineated autosomal recessive @PHENOTYPICFEATURE$, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.	has_symptom
+8487c27aeee78c2c78ac5aa4fc89eccc00962c2c	@DISEASE$ is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with @PHENOTYPICFEATURE$ and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+5ab8c62e2d5c122261bf5e126c1a05f0f813c7e5	Acrocapitofemoral dysplasia is a recently delineated autosomal recessive @DISEASE$, characterized clinically by @PHENOTYPICFEATURE$ with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+bbab3916bececd6572a8c528e0f371a435f9cf43	@DISEASE$ is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by @PHENOTYPICFEATURE$ with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+5c16387d8e0ad436d946172ca7e9e50f9a15da77	Acrocapitofemoral dysplasia is a recently delineated autosomal recessive @DISEASE$, characterized clinically by short stature with @PHENOTYPICFEATURE$ and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+610393ae2fddb18af99779c43f25348067affa5e	The @DISEASE$ is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, @PHENOTYPICFEATURE$, full checks and small mandible), skeletal defects and short stature.	has_symptom
+943a06843f520ea74ee53c658fe31c9bd925a695	The Melnick-Needles syndrome is a rare @DISEASE$ characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and @PHENOTYPICFEATURE$.	false
+25542887d32a62de6251de9420c700b4b28e342e	The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, @DISEASE$, full checks and small mandible), skeletal defects and @PHENOTYPICFEATURE$.	false
+89ec2c9390b459396bbdda11df87ba70a792c7e5	The @DISEASE$ is a rare connective tissue disorder characterised by specific facial features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and @PHENOTYPICFEATURE$.	false
+43e36c9c577a8f69a51d53a1b85519bbf00848f1	The Melnick-Needles syndrome is a rare connective tissue disorder characterised by specific @DISEASE$ features (small facial bones, exophthalmos, hypertelorism, full checks and small mandible), skeletal defects and @PHENOTYPICFEATURE$.	false
+3586e3861dbd0ae63be12b205a81175a94442692	There are several factors, like oxidative stress and @PHENOTYPICFEATURE$, involving neurodegenerative diseases such as @DISEASE$ (PD).	has_symptom
+da07ffc2d0f9c6652db8d4ad5f71fa9358d23866	22q11.2 deletion presenting with severe hypocalcaemia, @PHENOTYPICFEATURE$ and @DISEASE$ in an adult man.	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+a5df0d07902bd0085d2489c6f76b528fe9a232aa	Hypoparathyroidism should be investigated in young patients, if they have convulsive @PHENOTYPICFEATURE$ and widespread @DISEASE$ on CT.	has_symptom
+47b2184f5ece3dea8d44e9913349a8792e85bf4f	We report the case of a 13-year-old boy, affected by type Ib PHP revealed by hypocalcemia and @PHENOTYPICFEATURE$, with @DISEASE$ on the CT scan.	has_symptom
+2bdce6f03e38c07e4faecdf4ddae8097b5de92e8	We report the case of a 13-year-old boy, affected by type Ib PHP revealed by @PHENOTYPICFEATURE$ and @DISEASE$, with basal ganglia calcifications on the CT scan.	false
+4de58d8f8e863445c083f9daf6f72458ce8f91a7	We report the case of a 13-year-old boy, affected by type Ib PHP revealed by @PHENOTYPICFEATURE$ and seizures, with @DISEASE$ on the CT scan.	false
+fed301d29cc90bfcab0455cbbe06434ebc84fb43	We describe a case of an extremely rapid evolution of typical @PHENOTYPICFEATURE$ cataracts in a patient with familial @DISEASE$ during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced.	has_symptom
+739b7ddcc44fc700a6ec8e41d39875842c8a7f61	We describe a case of an extremely rapid evolution of typical hypocalcemic cataracts in a patient with familial autoimmune hypoparathyroidism during acute idiopathic @DISEASE$ and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+326e9871f1e82a2c7c8814261a0c4e55ab51a10e	We describe a case of an extremely rapid evolution of typical hypocalcemic @PHENOTYPICFEATURE$ in a patient with familial autoimmune hypoparathyroidism during acute idiopathic @DISEASE$ and renal failure, while serum calcium and phosphorus were unbalanced.	false
+794ce5a27adb754c3f4a53045d7e398076f68719	We describe a case of an extremely rapid evolution of typical @DISEASE$ cataracts in a patient with familial autoimmune hypoparathyroidism during acute idiopathic hepatic and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+7506858c51539e6008bfdcf78e1e641c9c7f0ee2	We describe a case of an extremely rapid evolution of typical hypocalcemic cataracts in a patient with familial @DISEASE$ during acute idiopathic hepatic and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+96b822ab95a616091b96540afc4d543f5fb1b4f9	We describe a case of an extremely rapid evolution of typical hypocalcemic @PHENOTYPICFEATURE$ in a patient with familial @DISEASE$ during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced.	false
+bd30c6f8b0a81c76d30b3343eb95e8d63822e2bd	We describe a case of an extremely rapid evolution of typical @DISEASE$ @PHENOTYPICFEATURE$ in a patient with familial autoimmune hypoparathyroidism during acute idiopathic hepatic and renal failure, while serum calcium and phosphorus were unbalanced.	false
+23cd9afdcd8bcbb889a64b4b38bd1b0427ad68b4	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, @DISEASE$, and glycerol kinase deficiency.	has_symptom
+d6aab2003bd49c6406eddb15bbdf2c01b3d1a231	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and @DISEASE$.	false
+8f06e38730347056a860e367a2b432c40c532866	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, @DISEASE$, and glycerol kinase deficiency.	false
+57479dded789e0773179307ccb629f23911a59ec	All patients had @DISEASE$ or muscle weakness, @PHENOTYPICFEATURE$, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+5eac4c1220fcf720b56435787e1fc4cf289b36ff	All patients had @DISEASE$ or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency.	false
+09c6839c355bfd6617316240bc1fcf036afeaecb	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+1413bf80f174191dfa24e249ad92ce54755d63ab	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+68bd48631bd6aff66f8b43ea6efd4d45775fb859	This child has a deletion of part of band 21 of the short arm of the X chromosome (Xp21) and three other X-linked disorders: @DISEASE$, glycerol kinase deficiency, and Duchenne type @PHENOTYPICFEATURE$.	has_symptom
+43ad3600d87f9a50e72404756945a26e9650e44b	@DISEASE$ (OPPG) is a rare autosomal recessive disorder characterised by severe juvenile-onset osteoporosis and congenital or early-onset @PHENOTYPICFEATURE$.	has_symptom
+a8ed226e4b8ff1b7c59f76b6d707bf8fdb94ae8d	The @DISEASE$ is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset @PHENOTYPICFEATURE$.	has_symptom
+73dd633aa4778af358577049daf9aa28dbfb6b03	Herein, we describe a child who carried the presumed diagnosis of @DISEASE$ because of the combined findings of recurrent low-impact fractures due to low bone mass and @PHENOTYPICFEATURE$.	has_symptom
+5ff34f052f2984702b868e986846f44890f46bd4	@DISEASE$ (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset @PHENOTYPICFEATURE$.	has_symptom
+377a4c64f5156b171f1eeb6fa5c784cc59c7291e	EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, @DISEASE$-Engelmann type, @PHENOTYPICFEATURE$-Pyle type, Melnick-Needles osteodysplasty, and otopalatodigital syndrome type I.	has_symptom
+2cb4e66281c98323b9be4fac880ff0a3cacf157b	@PHENOTYPICFEATURE$, epiphyseal dysplasia, @DISEASE$, and related conditions.	has_symptom
+a5bf97365b1f0274f3fb85b5e4c3240715363590	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (@DISEASE$), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia.	has_symptom
+751a55792860a28803da87218ed77aad346185a8	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), @DISEASE$ (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia.	has_symptom
+2cb4e66281c98323b9be4fac880ff0a3cacf157b	@PHENOTYPICFEATURE$, epiphyseal dysplasia, @DISEASE$, and related conditions.	has_symptom
+2cb4e66281c98323b9be4fac880ff0a3cacf157b	@PHENOTYPICFEATURE$, epiphyseal dysplasia, @DISEASE$, and related conditions.	has_symptom
+52f614714abaa885fb493bbc63330e65af5668d4	Differentiation from other sclerosing bone dysplasias, including @PHENOTYPICFEATURE$ (Pyle's disease), craniodiaphyseal dysplasia, and @DISEASE$ is based largely on characteristic radiographic findings.	has_symptom
+6a4f46683f327acc233235ee82deca4a25abc5ed	Besides CHF, we recognized oligophrenia, @PHENOTYPICFEATURE$, hypoplasia of cerebellar vermis and coloboma, leading to the diagnosis of @DISEASE$.	has_symptom
+faf2233bd4e4865d31bdd25e06f613b7b96e1598	Besides CHF, we recognized oligophrenia, @DISEASE$, @PHENOTYPICFEATURE$ vermis and coloboma, leading to the diagnosis of COACH syndrome.	false
+3d49a348f9fb7ac5dfa2f437d18539b8ece55f27	Besides CHF, we recognized oligophrenia, cerebellar ataxia, @PHENOTYPICFEATURE$ vermis and coloboma, leading to the diagnosis of @DISEASE$.	false
+08353481f5de4e8efaa844532daca3ccb17fe99d	@DISEASE$: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+59d3cd8818a26ad1ed1f54510fcbde6f9ddcc36a	COACH syndrome: report of two brothers with @DISEASE$, cerebellar vermis hypoplasia, oligophrenia, ataxia, and @PHENOTYPICFEATURE$.	false
+757ad45b1d34926cd5bc7062bcfc81f71dadcc59	@DISEASE$: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and @PHENOTYPICFEATURE$.	false
+678d396e5787fd284ad5a1e95d47a884a6580d16	@DISEASE$: report of two brothers with congenital hepatic fibrosis, @PHENOTYPICFEATURE$, oligophrenia, ataxia, and mental retardation.	false
+48f7642793e44ba10b384f1ced23dbf9469a6f4e	COACH syndrome: report of two brothers with congenital hepatic fibrosis, @PHENOTYPICFEATURE$, oligophrenia, @DISEASE$, and mental retardation.	false
+760d7f8aaefad53531862778afe3d421bc50dfa5	COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e62f775fe114a24d1a8abdbc7ce94c73d7ac6116	COACH syndrome: report of two brothers with @DISEASE$, @PHENOTYPICFEATURE$, oligophrenia, ataxia, and mental retardation.	false
+61c7d09aebc26743bf0a99d34a7ac098e2a857bf	The @DISEASE$ is a very rare disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	has_symptom
+70723ed369863235e1f504d49ede73d069eea7e9	The @DISEASE$ is a very rare disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	false
+90323a43c84b188da1a9c504759642e010d373ad	The COACH syndrome is a very @DISEASE$ disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	false
+b3cc4761ae275dd4a251d488a774e89a81a9c193	The COACH syndrome is a very rare disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and @DISEASE$ fibrosis.	false
+2d02c8dfa9d74d059de659e099559ba521a9b353	The COACH syndrome is a very rare disorder with @PHENOTYPICFEATURE$, oligophrenia, @DISEASE$, coloboma, and hepatic fibrosis.	false
+0fde7e24b3d7c059feebfbc0c05d8c139e313f92	The COACH syndrome is a very rare disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, @DISEASE$, and hepatic fibrosis.	false
+a1a05531677bfcee73e7c8da8aaede374a113d8d	This combination of findings suggested a diagnosis of @DISEASE$ which is characterized by hypoplasia of cerebellar vermis, oligophrenia, congenital @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	has_symptom
+4e2e129c07d5dd0f0f0cb4f1dfba42572411ffbd	This combination of findings suggested a diagnosis of @DISEASE$ which is characterized by @PHENOTYPICFEATURE$ vermis, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.	false
+cd3c1eab936b23cc5cc6a53ec41b32511cd8aa90	This combination of findings suggested a diagnosis of COACH syndrome which is characterized by @PHENOTYPICFEATURE$ vermis, oligophrenia, congenital ataxia, coloboma, and @DISEASE$ fibrosis.	false
+123ea58801fc7171d9b86d86b1dc9697c05c365f	This combination of findings suggested a diagnosis of COACH syndrome which is characterized by @PHENOTYPICFEATURE$ vermis, oligophrenia, congenital @DISEASE$, coloboma, and hepatic fibrosis.	false
+3028b8605fa30d62057bac0cd737c28d068849a6	This combination of findings suggested a diagnosis of COACH syndrome which is characterized by @PHENOTYPICFEATURE$ vermis, oligophrenia, congenital ataxia, @DISEASE$, and hepatic fibrosis.	false
+c9656a2e6a2a7548a241604cce7c0f96f8ea576c	@DISEASE$ is a disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	has_symptom
+07fbd45676a50db2a2d39bca2818a03d9ac27da7	COACH syndrome is a disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and @DISEASE$ fibrosis.	false
+3cecf11e4d296ded79838b09ebbe64a0e0a883a8	COACH syndrome is a disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, @DISEASE$, and hepatic fibrosis.	false
+ea8c4f7b46c8da1c72e45c725f56a1562809555c	COACH syndrome is a disorder with @PHENOTYPICFEATURE$, oligophrenia, @DISEASE$, coloboma, and hepatic fibrosis.	false
+466b1f2061530aa36167c92f381bf1744f045ff0	@DISEASE$ is a disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	false
+e382dee0e42af9581875be164d831eb6dbfe2026	@DISEASE$ is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	has_symptom
+dd33377cf087ea10b6aff58a0ec0770f1092ede2	COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by @PHENOTYPICFEATURE$, oligophrenia, @DISEASE$, coloboma, and hepatic fibrosis.	false
+12b5833cdc42a4b83a0d01074b28ae858a19b17e	COACH syndrome is an autosomal recessive developmental disorder, a subtype of @DISEASE$, characterized by @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	false
+ec1caaf76817618631d0898fdcde64b3be5500bc	@DISEASE$ is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	false
+7cb372d7d70ffcba3d1d9c75bcddd1777d7f9e2f	COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by @PHENOTYPICFEATURE$, oligophrenia, ataxia, @DISEASE$, and hepatic fibrosis.	false
+deba744cbea385f7ca809c04ada5cb28c109132f	COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and @DISEASE$ fibrosis.	false
+cf5d290a505062533c245f51fa571ac01025f33e	Individuals with germline PTEN @PHENOTYPICFEATURE$-suppressor variants have @DISEASE$ (PHTS).	has_symptom
+0c731c23ece1adc4739ba5783776e4da826adf44	@DISEASE$ is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the @PHENOTYPICFEATURE$ suppressor gene PTEN.	has_symptom
+736d90a848791790aed828bba29be23c664ff140	Cowden syndrome (CS) is the prototypic @DISEASE$ (PHTS), rare clinical syndromes characterized by germline mutations of the @PHENOTYPICFEATURE$ suppressor PTEN.	has_symptom
+90a39fb66c60715e535d29417019977ac4261ffb	@DISEASE$ (PHTS) encompasses four major clinically distinct syndromes associated with germline mutations in the @PHENOTYPICFEATURE$ suppressor PTEN.	has_symptom
+42b899bf156a224e82ae614afa1de1c2c730aa3e	The @DISEASE$ (PHTS) is a complex disorder caused by germline inactivating mutations of the @PHENOTYPICFEATURE$ suppressor gene PTEN.	has_symptom
+c09207ea3c76f9d767df86c2d4ca8c4e67e2c63d	Since preventive screening for associated @PHENOTYPICFEATURE$ is offered to patients with molecular proven @DISEASE$, recognition of this condition in the bariatric surgery clinic is important.	has_symptom
+f8e89c37739c5e7b18587be2300da4d1a623563b	@DISEASE$ (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN @PHENOTYPICFEATURE$ suppressor gene.	has_symptom
+845cabd1029f910534506d739d9885ef18d7c43f	The @DISEASE$ (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the @PHENOTYPICFEATURE$ suppressor PTEN.	has_symptom
+753b71f9de8ab4d09002e102b53d087454bf9adb	@DISEASE$ (PHTS) comprises a collection of genetic disorders associated with germline mutations in the @PHENOTYPICFEATURE$ suppressor gene PTEN.	has_symptom
+1d2838d3e50b378f0239a2dd24a919b3190d120f	This indicates that @DISEASE$ patients may benefit from treatment with mTOR blocking agents to limit the inflammatory response in the @PHENOTYPICFEATURE$ microenvironment.	has_symptom
+6c8db613064b04bf18a6f32a285bfd8fd89e1eef	Polymerase ?1 mutation in a human syndrome with @PHENOTYPICFEATURE$, immunodeficiency, livedo, and short stature ("@DISEASE$").	has_symptom
+07e7790937e187a3d00f6de7c9a502c5f6ee0538	Polymerase ?1 mutation in a human syndrome with facial dysmorphism, @DISEASE$, livedo, and @PHENOTYPICFEATURE$ ("FILS syndrome").	false
+d90b4b2ebda54e5b1ab148f21c9e0458f6084636	Polymerase ?1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and @PHENOTYPICFEATURE$ ("@DISEASE$").	false
+7d7ad7514edcc81e8afb76461eb804431a7eab00	Polymerase ?1 mutation in a human syndrome with @DISEASE$, immunodeficiency, livedo, and @PHENOTYPICFEATURE$ ("FILS syndrome").	false
+47320f6c6cae4a83bbe09abb3d515ba566b2430d	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused @PHENOTYPICFEATURE$, immunodeficiency, livedo, and short stature ("@DISEASE$") in a large, consanguineous family.	has_symptom
+e66ecc3e2f1f3c64039cc5331224d4782ef86d20	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused facial dysmorphism, @DISEASE$, livedo, and @PHENOTYPICFEATURE$ ("FILS syndrome") in a large, consanguineous family.	false
+7772e39e9860a8e66de300bb2e4a30a2cccf3bc3	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused @DISEASE$, immunodeficiency, livedo, and @PHENOTYPICFEATURE$ ("FILS syndrome") in a large, consanguineous family.	false
+40a7219687f0aa708153c0019553e9f713ef3bce	Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ? 1), encoding the catalytic subunit of Pol?, caused facial dysmorphism, immunodeficiency, livedo, and @PHENOTYPICFEATURE$ ("@DISEASE$") in a large, consanguineous family.	false
+3346fc8949815e2c1ea428eba3696db263058c76	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	has_symptom
+f4782e20ecf3122553cd54a475c2e24f621e2bf3	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, @DISEASE$, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	false
+4176ceed477728eb1388fd95676ef054c2038bb6	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a combined immunodeficiency.	false
+03192e38b1c85cc38390b21251dda3c09ee4419d	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, @DISEASE$, and a combined immunodeficiency.	false
+2fc88315c43a73b2c528aba00ff8f00b6db0c12c	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @DISEASE$, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a combined immunodeficiency.	false
+63b5eb494134a1d5384d8edb5f11565adffa3a9a	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	false
+fc6d3daaa8cfd60a40f239f132063b5255b57cab	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a @DISEASE$.	false
+483766b2e446bc3306729197bab52915ad67d574	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, and a combined immunodeficiency.	false
+c5dce8e24aef800af6128e4fa630eebb1767db75	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a @DISEASE$.	false
+954d2fc82de6408eee8033ca17ac4c639899fc8e	To report and compile the ophthalmological features critical to diagnosis of @DISEASE$, a rare congenital disorder characterized principally by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, immune defects, and hypopigmentation.	has_symptom
+eb4fea941193130b735298960e8c5f02d5a8f428	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, immune defects, and hypopigmentation.	false
+a3152c560739f984490e64711845774a821b1331	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by agenesis of the corpus callosum, @DISEASE$, cardiomyopathy, immune defects, and @PHENOTYPICFEATURE$.	false
+e6dc6d710cde8c22b5d6e8f5e2d86e47096fc496	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by agenesis of the corpus callosum, cataracts, @DISEASE$, immune defects, and @PHENOTYPICFEATURE$.	false
+dca372fa34c7af06480bb23a8ec37919760d4da2	To report and compile the ophthalmological features critical to diagnosis of Vici syndrome, a rare congenital disorder characterized principally by @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, immune defects, and hypopigmentation.	false
+71aad3aaa4409f314ee0428475fe2673489cba2b	To report and compile the ophthalmological features critical to diagnosis of @DISEASE$, a rare congenital disorder characterized principally by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, immune defects, and hypopigmentation.	false
+69c35142ad2d663adb189ef6c2db7f92bbdc053c	To report and compile the ophthalmological features critical to diagnosis of @DISEASE$, a rare congenital disorder characterized principally by agenesis of the corpus callosum, cataracts, cardiomyopathy, immune defects, and @PHENOTYPICFEATURE$.	false
+2e4fbeb8b4b491f6be10dbeeacb73674ed6f171c	@DISEASE$ should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, @PHENOTYPICFEATURE$, immune deficiency, or cutaneous hypopigmentation.	has_symptom
+a500d449851085bf5b92a7fb7d6d844618b42710	Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, @DISEASE$, immune deficiency, or cutaneous @PHENOTYPICFEATURE$.	false
+e6cd768d3756d70ad03b80465a1bd8b03687ddab	@DISEASE$ should be suspected in any child with agenesis of the corpus callosum and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous @PHENOTYPICFEATURE$.	false
+1b8ef639ca648a1893a897a863d9090a0d57e934	@DISEASE$ should be suspected in any child with @PHENOTYPICFEATURE$ and one of the following findings: cardiomyopathy, cataracts, immune deficiency, or cutaneous hypopigmentation.	false
+058a947f2562f290c4be583f4eff07a3fc9f8112	Vici syndrome should be suspected in any child with agenesis of the corpus callosum and one of the following findings: @DISEASE$, cataracts, immune deficiency, or cutaneous @PHENOTYPICFEATURE$.	false
+b27a95b4bb16aa4cba0c9477d61a6f2c504ddc24	Vici syndrome should be suspected in any child with @PHENOTYPICFEATURE$ and one of the following findings: cardiomyopathy, @DISEASE$, immune deficiency, or cutaneous hypopigmentation.	false
+dd676de7e64ce880bee4d1cff13f31a88d6503f1	Vici syndrome should be suspected in any child with @PHENOTYPICFEATURE$ and one of the following findings: @DISEASE$, cataracts, immune deficiency, or cutaneous hypopigmentation.	false
+bbc6afafbd064709383a4969c83e5c2a5229cda9	@DISEASE$ is a recessively inherited multisystem disorder characterized by callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	has_symptom
+3b3a0437772c775147928dd04a1ca29bf0d02ac7	Vici syndrome is a recessively inherited @DISEASE$ characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+714c60dbb4cbf34cccd2e90524e0b626b19989fe	Vici syndrome is a recessively inherited @DISEASE$ characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+cd0658cc3f3e64da7ed3929f5c8b3b12adb0ef90	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, @DISEASE$, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+ef064dee5ccb153285489869521bf497f3e4b8c7	@DISEASE$ is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+1c026153fa7d1c286e380ca5e6cd6eac44ea248a	@DISEASE$ is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+2bd6ae86a8f58d893b497d1602ad8cfcae42dbc6	Vici syndrome is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+739f8d6eea249b1faa844e535d941ca1c4b3af59	Vici syndrome is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency and hypopigmentation.	false
+261216f45612c15f63ae88b40573619fe4b92ff9	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, @DISEASE$, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+b510e438d33be9e447ab614e025810aba10bbc76	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	has_symptom
+ed29794df46b28107d03907b78ed85d1ee470ef4	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+1e3e0de3833e34d90ea69626809b00150844f70b	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, @DISEASE$, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+20f6c2f3ff3cec2d08fa79c93aab20869bd1eb6f	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, @DISEASE$, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+0f486387db915261a0355b0d1c10d8297bd2943a	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+c31283968a89cb173bdf88ae67ad9a243ff09f36	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @DISEASE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+02d8a7c25ffb00210ad76309397ef00a57aea62f	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+8e57b76cfab344d3bcba4aab3d8645bff809246b	Vici syndrome is a rare autosomal recessively inherited @DISEASE$ characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+409c26b44800d612fbff0caa1e0e09748fc463c7	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+cab0e14bd98e43e3216ec4d467865c43a26143f1	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, psychomotor delay, and hypopigmentation.	false
+16827dbeb1d4db5057c07611018abde6a4380d7c	Vici syndrome is a rare autosomal recessively inherited @DISEASE$ characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+59a466ce464102b29e294e551c461443e47ccae5	Review of reported children with @DISEASE$ identifies bilateral @PHENOTYPICFEATURE$, nystagmus, fundus hypopigmentation, visual impairment, and optic nerve hypoplasia as common ophthalmologic features.	has_symptom
+c5108027c5c9f8c69bf55f0b72ff794bfe22cb84	Review of reported children with @DISEASE$ identifies bilateral cataracts, nystagmus, fundus hypopigmentation, @PHENOTYPICFEATURE$, and optic nerve hypoplasia as common ophthalmologic features.	false
+0b8ee8a61e75ff58f4aed3bf0bfefb477f40d838	Review of reported children with Vici syndrome identifies bilateral @DISEASE$, nystagmus, fundus hypopigmentation, @PHENOTYPICFEATURE$, and optic nerve hypoplasia as common ophthalmologic features.	false
+00fe718ad22b6426ff24ce3ffa94c84a05a664c6	@DISEASE$ is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	has_symptom
+f3fb8637ae0a15be124243621e6542bb669bf245	@DISEASE$ is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities.	false
+ec6fcd5638fbd4a5c79b49b521ed1f3be961e4c3	Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, @DISEASE$, and immunological abnormalities.	false
+3d2e55049bd194d8318a034010c3d8b77870272b	Vici syndrome is a rare congenital @DISEASE$ characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, and immunological abnormalities.	false
+7f9c6d2eb8e115f7398fcf7f9372a793c6138ad3	Vici syndrome is a rare congenital @DISEASE$ characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities.	false
+6b9c1ab0d71a0294ab744524b56efefe849358b8	Vici syndrome is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, @DISEASE$, and immunological abnormalities.	false
+9edb82049956d043c3d1f3a9f2f64bf0ede88aab	Vici syndrome is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, @DISEASE$, cardiomyopathy, and immunological abnormalities.	false
+147319b42d7d238452e7f7dd72675273602b6d20	Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, and immunological abnormalities.	false
+9578abe63e65c3faa81bdd27ecc0521223f509b1	@DISEASE$ is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, and immunological abnormalities.	false
+098517b49c9253ab9d380e915ba84b365c521e36	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	has_symptom
+33306cd5706f99c56ce4be5749051452ea88e67e	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, @DISEASE$, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+18b8ad73ad9a8edbcc6201c671954e7a09d9555c	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+bedae7bebf37bc4a1d6b9fa85b5d8ae0c319d68c	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital @DISEASE$ characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+654fb50ff42f6780f946bffad0f7ee41ef572c40	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+933d68219eed1774c81d3b94c5d2ff94d727f186	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital @DISEASE$ characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+a3dddc29746b2e017c9e80371199d0f6f7b802e0	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, @DISEASE$, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+84f4a8e8db996bdc92d3a7884e46f998749e4f29	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @DISEASE$, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+df55bde1c32409c98799266e013552d2ef53102f	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+8a1eab9c39852d8b3ab4facfd18e14952cf68f23	@DISEASE$ is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	has_symptom
+167f259940537292fe478a5d12151e069a5278ef	@DISEASE$ is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+b222f707fb99bdfd6dba72be3ceb01d0e8760505	Vici syndrome is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+4aa601074c89e9878307cfe9ede1830ce536596e	Vici syndrome is characterized by @PHENOTYPICFEATURE$, hypopigmentation, immunodeficiency, @DISEASE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+6d1abc2d1c6ece438ee1c488f913fa0580c7dc67	Vici syndrome is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, and @DISEASE$, with variable additional multisystem involvement.	false
+4b0cbe1c965e69bf65e5a797b744903499788473	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+b00a0509d4826c2f72e42e4dd5dac941d25c1cfe	Vici syndrome is characterized by @PHENOTYPICFEATURE$, hypopigmentation, @DISEASE$, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+fd72e30b4de7cb4291ecfdea649da46f2e1246fc	Vici syndrome is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, @DISEASE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+d6430ce566b76e1cad52d625fc249beca13801e7	Vici syndrome is characterized by @PHENOTYPICFEATURE$, hypopigmentation, immunodeficiency, cataracts, and @DISEASE$, with variable additional multisystem involvement.	false
+620875e980a0b41f6a6ca576ef886a5a485ed3da	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	has_symptom
+ec977458bac90873ad3e12ad972f209eb3bd58ec	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, @DISEASE$, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+142b58063e88c67b4a1819478a3cc7310e47ff3e	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, @DISEASE$, and hypopigmentation.	false
+fc13fdc359893344cfbf6744792fa13bae40c2d8	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e404633d11779d508403e0fa303c912821adb509	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+0966f1aca3b1aa5583207d08abc3ecd100832a5e	Vici syndrome is a rare, genetically unresolved congenital @DISEASE$ comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+ec3fffc4fd58dec0eb36c38c4df7e2b0a5bdf85c	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+5e1400e4e3e487c6d04cc9f7017750f3952052ab	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, @DISEASE$, cardiomyopathy, and hypopigmentation.	false
+30cc415bbe7454bd007020ebe765edaecc80cdf7	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+54b12a97f691989d22795735f8c0c2d98aa4df82	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @DISEASE$, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+7dd47afad3afe2e2142b01cf7e70d626a1691231	Vici syndrome is a rare, genetically unresolved congenital @DISEASE$ comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+c20294931b045c88b663532ca1db25a7ad2e23b8	A 14-year-old girl with the @DISEASE$ syndrome had an 8-year history of intestinal pseudoobstruction with @PHENOTYPICFEATURE$, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis.	has_symptom
+ed334f708bb5933e1f6b5318779f0e246484a1a3	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, @PHENOTYPICFEATURE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	has_symptom
+14ff6ce146a4eee1dc8caca048e43b1fd2432800	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+f0ff0ef7be2644c12ef281870b83f2d193bdc10a	The Simpson-Golabi-Behmel syndrome (SGBS) is an @PHENOTYPICFEATURE$ condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, @DISEASE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+def66ce08a4b2300e932d1cde5b0f75d86cb667b	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, @DISEASE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+d57b087b44e701ca46a7cc699bf2ff65305912fe	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, @PHENOTYPICFEATURE$, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+ff927949810bb7e20c4e634421d26ae16336649c	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, @PHENOTYPICFEATURE$, large head, prominent skull sutures, midface deficiency, @DISEASE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+d6839a691b8d6813ea21430fc522035ee3f2f9c5	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, @PHENOTYPICFEATURE$, prominent skull sutures, midface deficiency, @DISEASE$, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+5b73fccd73f1d06929c5380b19b50cee33a28f79	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, @PHENOTYPICFEATURE$, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+3034f08e66ec8cd873fdd297d8cbe93839ff2f93	The @DISEASE$ (SGBS) is an @PHENOTYPICFEATURE$ condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities.	false
+3586283e586e072a55a902df4addf6acd705d17f	@DISEASE$ in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and @PHENOTYPICFEATURE$.	has_symptom
+bf012775934cb0bd8144984eff6d59cf8590cb70	Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic @PHENOTYPICFEATURE$, patent ductus arteriosus and @DISEASE$.	false
+7c871e7e35e2d5b52d01cfe9e212054f6584b1df	@DISEASE$ in a child previously described with brachydactyly, extrahepatic @PHENOTYPICFEATURE$, patent ductus arteriosus and seizures.	false
+963d67dd7e07a3d4ae86021a20ced97adaadc222	@DISEASE$ in a child previously described with @PHENOTYPICFEATURE$, extrahepatic biliary atresia, patent ductus arteriosus and seizures.	false
+d8cc174f06d7176c69aadc83279f8e3be3d94091	Zimmermann-Laband syndrome in a child previously described with @PHENOTYPICFEATURE$, extrahepatic biliary atresia, patent ductus arteriosus and @DISEASE$.	false
+a08dcec0ee1e5c52db9b2c44e7a427f7548c8950	@DISEASE$ (CIPA) syndrome is a neuropathy characterized by insensitivity to pain, impaired thermoregulation, anhidrosis, and @PHENOTYPICFEATURE$.	has_symptom
+c14cc9a7dab739151d2dddb2142b303efb5bd587	@DISEASE$ is a rare autosomal recessive disorder characterized by hyperpyrexia, anhidrosis, pain insensitivity, self-inflicted injuries, and @PHENOTYPICFEATURE$.	has_symptom
+849329f6f9bc5f8151bdbb343150df6400b03a77	Atypical @DISEASE$ with neither @PHENOTYPICFEATURE$ nor pain insensitivity.	has_symptom
+9022571ebcd09697d28927903fc86317df5f5aea	@DISEASE$ is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and @PHENOTYPICFEATURE$.	has_symptom
+39c4931bfd805012caead3312c53cd242ae09bc7	@DISEASE$ is a rare disease characterized by fever episodes, @PHENOTYPICFEATURE$ of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain.	has_symptom
+769d903be21ce6e153ca82de9a89f1522cad5fdf	Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by @PHENOTYPICFEATURE$ episodes, @DISEASE$ of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain.	false
+e90467c517c1c5986fea00918e61a153e0753211	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$ episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain.	false
+086fc2b7dc166e15fc787556e852b66d53297b33	@DISEASE$ (HSAN-IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+8d7050a1b5bb5f05518d8740c98809cb91e3c611	Congenital insensitivity to pain with anhidrosis (CIPA), also known as @DISEASE$, features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable @PHENOTYPICFEATURE$.	has_symptom
+db5424f8132019c633744043336a2a957ca840fc	Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, features loss of @PHENOTYPICFEATURE$ sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable @DISEASE$.	false
+ea8fd1d6aa41987c4991bf6dc609f3bcd7129ff6	Congenital insensitivity to pain with anhidrosis (CIPA), also known as @DISEASE$, features loss of @PHENOTYPICFEATURE$ sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable mental retardation.	false
+0cead44c5d78ff142205c222a52b7ff308764d74	@DISEASE$ is a rare autosomal-recessive disorder characterized by unexplained fever episodes, anhidrosis, pain insensitivity, self-mutilating behavior, and @PHENOTYPICFEATURE$.	has_symptom
+3cf66b0bef23c5cd3f16e4442e9c0f09c51bd1aa	Congenital insensitivity to pain with anhidrosis, also known as @DISEASE$, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, @PHENOTYPICFEATURE$, and self-mutilating behavior.	has_symptom
+5507edcb3445fde7d2e7b802a49ee935378ac6d5	@DISEASE$ (HSAN IV) is a very rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, extensive anhidrosis, total insensitivity to pain, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+b6988090c5a83badcba3feee664583dc3cc7afb3	Parental origin of Robertsonian translocation (15q22q) and @DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+ffa89dd3584071d47db7bb7a340fbc1e6d9c8b31	We then use a more trait-based approach to suggest possible ties between specific phenotypic characteristics of @PHENOTYPICFEATURE$ and @DISEASE$, namely savant-like skills.	has_symptom
+decabdad4a3619ee1e60a22aa4303f0460c03abe	An early OT treatment in this critical period could be a novel therapeutic approach for the treatment of neurodevelopmental disorders such as @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+dfd919d5a9e812d6844827de5e868d89cf4bcf7e	Repetitive and ritualistic behaviour in children with @DISEASE$ and children with @PHENOTYPICFEATURE$.	has_symptom
+742d81654bdac05d98a857f1811934a21be634e4	Is there a connection between @PHENOTYPICFEATURE$, @DISEASE$, catatonia, and GABA?	has_symptom
+0a93b0ed29350dd9030f21c07a8ecafc96b17050	Brief report: parental descriptions of sleep problems in children with @PHENOTYPICFEATURE$, Down syndrome, and @DISEASE$.	has_symptom
+827b65dfd553d07ad46ab39e1dd23d59628e6656	Chromosome 15q11-q14 has been proposed to harbor a gene for autism susceptibility because deletion of the region leads to @DISEASE$ or Angelman syndrome, having phenotypic overlap with @PHENOTYPICFEATURE$.	has_symptom
+4239a0750e22cb0236b73577cc30360fbbc4e634	Chromosome 15q11-q14 has been proposed to harbor a gene for @PHENOTYPICFEATURE$ susceptibility because deletion of the region leads to @DISEASE$ or Angelman syndrome, having phenotypic overlap with autism.	has_symptom
+4ef4359b7251bf9d243350925c788f2772b3c8c9	Disruptions of these hormone systems have been linked to several neurobehavioral disorders, including @PHENOTYPICFEATURE$, @DISEASE$, affective disorders, and obsessive-compulsive disorder.	has_symptom
+6f758973696d747d608aeee977937828e9a51710	Several imprinted genes are implicated in neurodevelopmental brain disorders, such as @PHENOTYPICFEATURE$, Angelman, and @DISEASE$.	has_symptom
+8371d925c7651d0c7edc98b525e34e84ae819e9c	Chromosome 15q11-q13 has been proposed to harbor a gene for autism susceptibility because deletions of the region lead to @DISEASE$ and Angelman syndrome, whose phenotypes overlap with @PHENOTYPICFEATURE$.	has_symptom
+536821f9eeee68432db7fcedff8a114e9dcc7f32	Chromosome 15q11-q13 has been proposed to harbor a gene for @PHENOTYPICFEATURE$ susceptibility because deletions of the region lead to @DISEASE$ and Angelman syndrome, whose phenotypes overlap with autism.	has_symptom
+7564ef2fcac91eaad7c49a19cd11c3d7413b447c	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or @PHENOTYPICFEATURE$ episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of @DISEASE$, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	has_symptom
+231361b0a7b364e1727f2241e70b3ca04109a2a4	Clinically, @DISEASE$ can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or @PHENOTYPICFEATURE$ episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	has_symptom
+c9000f208a5324711f6213bbc255ab0a4b55cc0a	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or @PHENOTYPICFEATURE$ episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of @DISEASE$ nor of AA amyloidosis.	has_symptom
+6dc75f79ee5716c0b9b2be42a67c8b12a69b7aaa	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of @DISEASE$.	false
+42980e56f6dca8a1a91883cf94f4d1f7f095006c	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of @DISEASE$ nor of AA amyloidosis.	false
+3acc3ecbf6b2c855cee01631544a329871ed01e1	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, @DISEASE$ or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+f92d4015beafeb9cdab2712e5879fa9c05587843	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or @DISEASE$ episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+fe73f1a4097c83a041f578ac0138e40a1bd84a4e	Clinically, @DISEASE$ can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+b2d3fb0a26a54d6cc9e8a4cec9ab793ff20a7954	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of @DISEASE$, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+bf0ce6702f53b9443ee2baad43eb3f6d9cc6f9e8	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) @DISEASE$, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+b80216f7ef782d6e6302b9bd1b0ae6463b291140	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including @PHENOTYPICFEATURE$, peritonitis, @DISEASE$, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+f066a7423d753bf41f7fee10d7b09b2395c946b1	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and @DISEASE$, including @PHENOTYPICFEATURE$, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or meningitis episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of AA amyloidosis.	false
+2c4349e2597ba5ec5740624480d8c46a03908a10	@DISEASE$ (WS2) is associated with syndromic @PHENOTYPICFEATURE$.	has_symptom
+1054544b92291f1e2bc8c910f93ad58e1d469741	@DISEASE$ (WS2) is a dominantly inherited disorder characterized by a pigmentation anomaly and @PHENOTYPICFEATURE$ due to lack of melanocyte.	has_symptom
+6cb683968ead69930924c7eb3f57ca552818d815	Waardenburg syndrome type 2 (WS2) is a dominantly inherited disorder characterized by a @PHENOTYPICFEATURE$ and @DISEASE$ due to lack of melanocyte.	false
+f71d643b357472e39966b434aa2486238eef283b	@DISEASE$ (WS2) is a dominantly inherited disorder characterized by a @PHENOTYPICFEATURE$ and hearing impairment due to lack of melanocyte.	false
+3d2974f2ff6705bfae58e2e700a0a5c4718911cb	Mutations in MITF (microphthalmia transcription factor) cause @DISEASE$ (WS2A) in humans, an autosomal dominant disorder consisting of @PHENOTYPICFEATURE$ and hypopigmentation.	has_symptom
+f5c3e5b24023f4450230c32b3c2b0dd36b3161cd	Mutations in MITF (microphthalmia transcription factor) cause Waardenburg syndrome type 2 (WS2A) in humans, an autosomal dominant disorder consisting of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dd4a9021a572bfb4b0f5fa91de2b085dd68df496	Mutations in MITF (microphthalmia transcription factor) cause @DISEASE$ (WS2A) in humans, an autosomal dominant disorder consisting of deafness and @PHENOTYPICFEATURE$.	false
+d91aff56a6c16f14d1483237afda5a6cb6213ea6	Disruption of MITF causes @PHENOTYPICFEATURE$, heterochromia irides, and leucodermia in @DISEASE$ individuals, whereas that of Mitf causes phenotypes of deafness, microphthalmia, and white coat in mice.	has_symptom
+8d44023ccab1a0d075b990d3482b4c780f6af856	Disruption of MITF causes deafness, heterochromia irides, and leucodermia in @DISEASE$ individuals, whereas that of Mitf causes phenotypes of @PHENOTYPICFEATURE$, microphthalmia, and white coat in mice.	has_symptom
+ad68ad4e3aada572b1f327c59597136338fa1c09	Disruption of MITF causes @DISEASE$, heterochromia irides, and leucodermia in Waardenburg syndrome type 2 individuals, whereas that of Mitf causes phenotypes of deafness, @PHENOTYPICFEATURE$, and white coat in mice.	false
+43b83f2db8b51bf00082b38cddaff9072b61bf04	Disruption of MITF causes deafness, heterochromia irides, and leucodermia in Waardenburg syndrome type 2 individuals, whereas that of Mitf causes phenotypes of @DISEASE$, @PHENOTYPICFEATURE$, and white coat in mice.	false
+7f3737871d0b08adfdc5979977b206ae78bfd9d1	Disruption of MITF causes deafness, heterochromia irides, and leucodermia in @DISEASE$ individuals, whereas that of Mitf causes phenotypes of deafness, @PHENOTYPICFEATURE$, and white coat in mice.	false
+7e824ba6964153837fa57517669770608aa55bfe	Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with @DISEASE$ (WS2) that is characterized by @PHENOTYPICFEATURE$ and hypopigmentation because of lack of melanocytes in the inner ear and skin.	has_symptom
+53fe3ab03bb37e24027f396f24fb2d0ccd06f1c5	Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with Waardenburg syndrome type 2 (WS2) that is characterized by @DISEASE$ and @PHENOTYPICFEATURE$ because of lack of melanocytes in the inner ear and skin.	false
+104b1d2e8c77c274a161b775f9fa76e59073f735	Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with @DISEASE$ (WS2) that is characterized by deafness and @PHENOTYPICFEATURE$ because of lack of melanocytes in the inner ear and skin.	false
+33fb7ba79dc32f1e099d6c7b9cbd032087c9299a	To differentiate this syndrome against @DISEASE$ which is complicated by @PHENOTYPICFEATURE$ twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful.	has_symptom
+e51538f74efc518b6331975fed863492b97224a1	The name juvenile @DISEASE$ syndrome (JTPS) is proposed for a disease which affects young people of both sexes in certain parts of the tropics and which is characterised by @PHENOTYPICFEATURE$, diabetes, steatorrhoea, and pancreatic calcification.	has_symptom
+66792b4633eaa4f0e7c49f06d777821d463ab029	@DISEASE$ (DRESS) syndrome is a hypersensitivity reaction associated with a variety of drugs, mainly anticonvulsants, which is characterized by systemic symptoms and @PHENOTYPICFEATURE$ lesions, common to other toxicodermas.	has_symptom
+e3417f4389285347b5648a25415e515eac34f00f	Hepatomegaly, anorexia, @PHENOTYPICFEATURE$, and vomiting were the most common clinical signs observed in the cats with @DISEASE$.	has_symptom
+47a624606f637ff27ac55826384123a8401f76f2	Hepatomegaly, anorexia, weight loss, and @PHENOTYPICFEATURE$ were the most common clinical signs observed in the cats with @DISEASE$.	false
+db83342e5477832e1fb6cd66d21e3b6490006a70	Hepatomegaly, anorexia, @DISEASE$, and @PHENOTYPICFEATURE$ were the most common clinical signs observed in the cats with hepatic neuroendocrine carcinoma.	false
+2eb12a82a82447960cf4d13fc64da45262017433	@DISEASE$ (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes @PHENOTYPICFEATURE$.	has_symptom
+23078b86920406dc692d35709569afca2f5c9e8d	@DISEASE$ (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+227f116368209fefc59cb4d8d7beab3ffc99e283	Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, @PHENOTYPICFEATURE$ and sometimes @DISEASE$.	false
+324930d7bdf27d84dbebf06c611eff6c67d525b1	@DISEASE$ (ZLS) is a rare autosomal disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, hypoplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, hirsutism, and @PHENOTYPICFEATURE$.	has_symptom
+ff91ba4f93f52cc1312c6738706c64c22e16923a	@DISEASE$ (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, @PHENOTYPICFEATURE$, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet.	has_symptom
+7fcb5a4c9607cd6ffc0df1a6a5fbb385c740d89c	@DISEASE$ (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and @PHENOTYPICFEATURE$.	has_symptom
+29ad66ca5d0b5f2ffc7c8e4de5e05de7ec7892aa	@DISEASE$ (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, @PHENOTYPICFEATURE$ and intellectual disability.	false
+46c2059540ae57d68bfa9ae4ce0551a170344ed5	Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6ba7caa4a1c209e7b0fbe4c0b821e3c33badb5a7	Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by @DISEASE$, hypo/aplastic nails and distal phalanges, @PHENOTYPICFEATURE$ and intellectual disability.	false
+336a21e747002710fb009fc702ddc8068f71d941	The @DISEASE$ (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional @PHENOTYPICFEATURE$.	has_symptom
+378b83b16aa74d77424b391b957836d62bdfbcdc	The @DISEASE$ (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, @PHENOTYPICFEATURE$ and occasional mental retardation.	false
+45421f216cafdf710472b4baa189e4f96c9e30b4	The @DISEASE$ (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, @PHENOTYPICFEATURE$, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation.	false
+0641739bc60ba93b4f8c42c9f32461fe029d26d0	The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, @PHENOTYPICFEATURE$ and occasional @DISEASE$.	false
+218e59f074952ce6fc0e29df475ce461773ed866	The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, @PHENOTYPICFEATURE$, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional @DISEASE$.	false
+aa7b487b0a6cf07e42a21a066525cc4ca40d0b35	@DISEASE$ is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, absence and/or hyperplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, mild hirsutism and @PHENOTYPICFEATURE$.	has_symptom
+e35780c47bc4490408050b59ef589f7c71d88dbf	@DISEASE$ (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, @PHENOTYPICFEATURE$, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis.	has_symptom
+5cc5ae5623578cc671ae1361cdb00e0f18a1bf69	Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, @DISEASE$, hypoplasia or aplasia of nails and terminal phalanges, and @PHENOTYPICFEATURE$.	false
+a63037ef556ce4fbcf18ccf895db1b9e9c6a1aaf	Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with @DISEASE$, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and @PHENOTYPICFEATURE$.	false
+6d9c8ce63dabbd6b938f51aee9ee78754c35662d	Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by @DISEASE$ dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and @PHENOTYPICFEATURE$.	false
+2e6fd09631361445592d0f91ef9d470005040e44	@DISEASE$ (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and @PHENOTYPICFEATURE$.	false
+aed50ac71cf50a1acc2f3ae1fdafb3d2e8412a54	The ENT manifestations of @DISEASE$ are high arched palate, gingival hypertrophy, malocclusion and overcrowding of teeth, @PHENOTYPICFEATURE$ of the external auditory meatus, and low nasal bridge.	has_symptom
+e198f40a1e629dd0ba3c62fd1aea86e99d0eac11	A 2-year-old boy with @DISEASE$, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, @PHENOTYPICFEATURE$, overgrowth of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	has_symptom
+d78297732be6a09f96cad74d4957f115e9a8f055	A 2-year-old boy with @DISEASE$, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral @PHENOTYPICFEATURE$, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+cda247de7088f6604e2c765e6899b48c5f1f8710	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral @PHENOTYPICFEATURE$, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of @DISEASE$.	false
+b9e9ad2667dac19daaa1bc8119b67e36c441331d	A 2-year-old boy with @DISEASE$, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, @PHENOTYPICFEATURE$ of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+bb396e6372322a579ebbab961212decec6775c8f	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, @DISEASE$, @PHENOTYPICFEATURE$ of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+ca30c0401d57c637a75e70625a3740effec0a1df	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral @PHENOTYPICFEATURE$, and @DISEASE$ was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+43c8e21ae162d2ffcfba413ba8fb056a127c7b2e	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, @DISEASE$, overgrowth of tubular bones, bilateral @PHENOTYPICFEATURE$, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+e2787d7506bf1217f733e0bbe33406cfabb7aac6	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, @PHENOTYPICFEATURE$ of tubular bones, bilateral inguinal hernia, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of @DISEASE$.	false
+2d8234f524f4917d4a1918d0af21476ca56493b0	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, @PHENOTYPICFEATURE$ of tubular bones, bilateral inguinal hernia, and @DISEASE$ was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+4a63a03657ea90ebb578271b8818faabdfeba5fb	Sutural exostoses, rib @PHENOTYPICFEATURE$, craniosynostosis, mental retardation with focal fat deposition: @DISEASE$?	has_symptom
+5b52461f423b7f2129ea5a93a2f63ea35a35696c	Sutural exostoses, rib @DISEASE$, craniosynostosis, @PHENOTYPICFEATURE$ with focal fat deposition: Proteus syndrome?	false
+3ad7a40a2df222b2f62ec82d95acaeb6501060a5	Sutural exostoses, rib hyperostoses, craniosynostosis, @PHENOTYPICFEATURE$ with focal fat deposition: @DISEASE$?	false
+86d6770e6e4e7528f6dc15fb4bbe59b8d5ccf504	Sutural exostoses, rib hyperostoses, @DISEASE$, @PHENOTYPICFEATURE$ with focal fat deposition: Proteus syndrome?	false
+76c679fef87d9bd3f4099e213a55c70e3e82ade3	@DISEASE$ is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous tumors, hyperostoses, and long @PHENOTYPICFEATURE$.	has_symptom
+8843d56256e23b3d936f961f9e35d55b50903d83	Proteus syndrome is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous @PHENOTYPICFEATURE$, hyperostoses, and long @DISEASE$.	false
+e33768747560800a4541c436bc5b5e6fcbbbfb55	Proteus syndrome is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar @DISEASE$, multiple hamartomatous subcutaneous @PHENOTYPICFEATURE$, hyperostoses, and long bone overgrowth.	false
+e2c87ddb5adc7e8ee2de6a1adaa862a62a4a7669	Proteus syndrome is a rare @DISEASE$, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous @PHENOTYPICFEATURE$, hyperostoses, and long bone overgrowth.	false
+f9c75d4ea1ec1fa235c652123c1fd631c7657b49	@DISEASE$ is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous @PHENOTYPICFEATURE$, hyperostoses, and long bone overgrowth.	false
+b5c8bc09069c33999554cc8ddc06633c1db65423	@DISEASE$ (PS) is an extremely rare disorder with asymmetric and disproportionate @PHENOTYPICFEATURE$.	has_symptom
+a3bb706bfdd4c08168ed89ab453a49500146460a	Extraoral examination revealed several of the classical craniofacial features of @DISEASE$: pronounced hemifacial hypertrophy, macrodactyly and @PHENOTYPICFEATURE$.	has_symptom
+d8082d199b0a8d6772e271b56c7a06f30a6db9ae	@DISEASE$ is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and @PHENOTYPICFEATURE$.	has_symptom
+505f40b1713cec740ef8d3a01f8393794255ae34	@DISEASE$ oral and maxillofacial manifestations may include dental agenesis, impacted teeth, malocclusion, asymmetric dental growth and maturation, frontal line displacement, asymmetric tongue enlargement, mandibular hemihypertrophy and asymmetry, presence of exostoses/@PHENOTYPICFEATURE$, degenerative changes in the temporomandibular joint, alterations of maxillary and mandibular vertical and/or horizontal growth, and enlargement of mandibular canal and foramen.	has_symptom
+ab01412b5b36cf0eedf0b130b9ec16016206062c	@DISEASE$ syndrome: de novo occurrence of mosaic trisomy 12p in a @PHENOTYPICFEATURE$ boy.	has_symptom
+d4469e2a487960900f0fc7aeba3f6ee2590cefe8	Acromelic frontonasal dysostosis (@DISEASE$) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	has_symptom
+843c2b58931d5163eff5d5415274e9ed5869fcbd	@DISEASE$ (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	has_symptom
+8deb29af99d8cd8efe125b80c512588033168ca4	Acromelic frontonasal dysostosis (@DISEASE$) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+c3fd8b44d8f6c32b78a8c0832b21380c17059973	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including @DISEASE$, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+0ae660e25ee595c0570cfa5d6b368a2a0e1b5d7e	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @DISEASE$, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+dfc6cb7b664a0bfbd6ab40f4a1ee8c43065b1c05	@DISEASE$ (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	false
+f742d5651b786acaffb9de0e31d85b18580f0473	Cancers in @DISEASE$ are a challenge since the potentially life-threatening side effects of the chemotherapy may require modifications in standard treatment such as dose reduction, which can compromise the @PHENOTYPICFEATURE$ prognosis.	has_symptom
+a715b7d86c6c71e017275397ee4f3c407fa1d510	Low-sister-chromatid-exchange @DISEASE$ cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human @PHENOTYPICFEATURE$ development.	has_symptom
+541f09bafb07c140b1e5bd17e42e82533a336232	Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in @DISEASE$ and for unraveling the biology of human @PHENOTYPICFEATURE$ development.	has_symptom
+a3f3ebc5460b831ac5298a69e3d16a6084591ede	Mutations in human BLM helicase give rise to the autosomal recessive @DISEASE$, which shows high predisposition to types of malignant @PHENOTYPICFEATURE$.	has_symptom
+3aae84702a9f4c33e1bdf1a61a57fce920a60f93	@DISEASE$ B-lymphoblastoid cells are hypersensitive towards carcinogen and @PHENOTYPICFEATURE$ promoter-induced chromosomal alterations and growth in agar.	has_symptom
+f0d90770c7350ef494e8caf4b694adffc42fae24	Diagnostic relevance of abortion-associated human embryonic antigen expressed on the cell surface of @PHENOTYPICFEATURE$ promoter-treated @DISEASE$ cells.	has_symptom
+91522a0e09418d5b61dbaa7830a2113d26a1424a	@DISEASE$ is a genetic disorder associated with chromosomal instability and a predisposition to @PHENOTYPICFEATURE$ that is caused by germline mutations of the BLM gene, a RecQ helicase.	has_symptom
+12724df03d4425f36aa483c67dc923f5f74d1132	Defects in the human BLM gene cause @DISEASE$, notable for early development of @PHENOTYPICFEATURE$ in a broad variety of tissues.	has_symptom
+547daaf6e5d569e72f21a45fd5dd3bb63353d714	This review also discusses the nuclear localization signal of BLM, the proteins that interact with BLM and @PHENOTYPICFEATURE$ originating from @DISEASE$.	has_symptom
+31d487e43841b862d95fcb68101e8f6ce7dcf8fa	@DISEASE$ (BSx) is a rare autosomal-recessive chromosome-instability disorder manifested by a constellation of clinical features including a significant predisposition to early onset of @PHENOTYPICFEATURE$.	has_symptom
+1ee5caf528371222a403bfcde1446ace91814796	@DISEASE$ (BS) predisposes affected individuals to a wide variety of @PHENOTYPICFEATURE$ including hematological malignancies.	has_symptom
+f5a4b11437d4084dff50c5bab353cc6212384072	@PHENOTYPICFEATURE$ is one of the most serious complications associated with @DISEASE$ (ADPKD).	has_symptom
+08f1cd6452c642d8f060bf15b40d1d8941e69d57	@PHENOTYPICFEATURE$ is one of the most serious complications associated with autosomal dominant polycystic kidney disease (@DISEASE$).	has_symptom
+ef7d95f4ed892425661f7d938d5adcda1ebd94e7	Autosomal dominant polycystic kidney disease (@DISEASE$) is characterized by progressive renal enlargement and @PHENOTYPICFEATURE$.	has_symptom
+9917c7e2defce21319b80d8318192d6ca86408bf	@DISEASE$ (ADPKD) is characterized by progressive renal enlargement and @PHENOTYPICFEATURE$.	has_symptom
+befd1981a9aaf116257b057b836869b7b6b0a87a	@DISEASE$ (ADPKD) is the most common monogenic cause of @PHENOTYPICFEATURE$.	has_symptom
+4ff5208fbfa202625fdbf3d00c6f5cf444abfc34	Autosomal dominant polycystic kidney disease (@DISEASE$) is the most common monogenic cause of @PHENOTYPICFEATURE$.	has_symptom
+72f9c43fd71d5a1b8f4b2a97dcba6884210afb22	The major cause of hereditary @PHENOTYPICFEATURE$ is @DISEASE$ (ADPKD).	has_symptom
+7ce3258fba3a227b9acda1f727eb00ab56fcaf67	The major cause of hereditary @PHENOTYPICFEATURE$ is autosomal dominant polycystic kidney disease (@DISEASE$).	has_symptom
+de54452f78ef6d731fb96134d4c803f190bbd86c	Autosomal dominant polycystic kidney disease (@DISEASE$) leads to @PHENOTYPICFEATURE$.	has_symptom
+dcafb95a3feff5898695eb6d2e5fb633dbaf7d0e	@DISEASE$ (ADPKD) leads to @PHENOTYPICFEATURE$.	has_symptom
+3548ee38101f9c6512715e9152600f32031a6d8e	Autosomal dominant polycystic kidney disease (@DISEASE$) is common and is a major cause of @PHENOTYPICFEATURE$.	has_symptom
+acd31146c75e12c227fe3fe497da421ee5d19b1c	@DISEASE$ (ADPKD) is common and is a major cause of @PHENOTYPICFEATURE$.	has_symptom
+8dcf21ca3e7d28897788ca0ddab3a0e3ce9f6a04	@DISEASE$ (ADPKD) is the leading genetic cause of @PHENOTYPICFEATURE$.	has_symptom
+1fa0044d70e914c9f7c276f5bfcca9513a0c3dca	Autosomal dominant polycystic kidney disease (@DISEASE$) is the leading genetic cause of @PHENOTYPICFEATURE$.	has_symptom
+dbb498464ceba3451650f4789fc79da23c64f8b9	@DISEASE$ (ADPKD)--mechanisms of cyst formation and @PHENOTYPICFEATURE$.	has_symptom
+ad752d51d1e0565786a93de5b391a6e12eb9d44c	Autosomal dominant polycystic kidney disease (@DISEASE$)--mechanisms of cyst formation and @PHENOTYPICFEATURE$.	has_symptom
+4e9eefa4dfb389950fa0bbfc25948357c4c90f0b	Autosomal dominant polycystic kidney disease (@DISEASE$) is a common cause of @PHENOTYPICFEATURE$.	has_symptom
+e938c236032a6ce9db48ad47e52367a7ed5afd4f	@DISEASE$ (ADPKD) is a common cause of @PHENOTYPICFEATURE$.	has_symptom
+b056066b59285eab459e4dae208288fb18675edb	@DISEASE$ (ADPKD) is a serious cause of @PHENOTYPICFEATURE$.	has_symptom
+ee4f3b6be8aa4d41805a6ac1b88e3a966ea36c87	Autosomal dominant polycystic kidney disease (@DISEASE$) is a serious cause of @PHENOTYPICFEATURE$.	has_symptom
+bb026e87eb76cb087cf266a7172e678b24ce545b	Therefore, the objective of this study was to screen a large mixed-breed canine population for the presence of mutant alleles associated with five autosomal recessive disorders: hyperuricosuria and @PHENOTYPICFEATURE$ (HUU), @DISEASE$ (CYST), factor VII deficiency (FVIID), myotonia congenita (MYC) and phosphofructokinase deficiency (PKFD).	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+22bc29621c08f594eafb0fe2286f3af24287cdcc	Proposed diagnostic criteria for @DISEASE$ include the distinctive craniofacial appearance, ubiquitous @PHENOTYPICFEATURE$ and ectodermal anomalies, and sagittal craniosynostosis.	has_symptom
+0da0626d3707f4e64cc5a3ebb32bcdc3e078d423	As complete @DISEASE$ in man is associated with insulin resistance, obesity and @PHENOTYPICFEATURE$, the ArKO mouse may be a useful animal model for examining the role of estrogens in the control of glucose and lipid homeostasis.	has_symptom
+6f35a1eaf39b48fe948a9b15f81c56cc81256bb0	As complete aromatase deficiency in man is associated with insulin resistance, @PHENOTYPICFEATURE$ and @DISEASE$, the ArKO mouse may be a useful animal model for examining the role of estrogens in the control of glucose and lipid homeostasis.	false
+12ece90a5439411f11a115c41ea98d1a9ca09700	As complete @DISEASE$ in man is associated with insulin resistance, @PHENOTYPICFEATURE$ and hyperlipidemia, the ArKO mouse may be a useful animal model for examining the role of estrogens in the control of glucose and lipid homeostasis.	false
+a50160069747a61573ef997ea36435b60a884da3	Genetic testing for oculocutaneous @PHENOTYPICFEATURE$ type 1 and 2 and @DISEASE$ and 3 mutations in Puerto Rico.	has_symptom
+3b0caad4f5c1d58bd70d755ca2c9ddd447816e89	A 22-year-old female presented with the characteristic clinical features of @DISEASE$, including short stature, small face, prominent @PHENOTYPICFEATURE$, thin lips, small mouth, and short hands.	has_symptom
+a4ab0d663e04c158bb5b14d485b9e540e6bd0612	A 22-year-old female presented with the characteristic clinical features of HCS, including @PHENOTYPICFEATURE$, small face, prominent @DISEASE$, thin lips, small mouth, and short hands.	false
+6556ee2729c66631a9c72385bf9da7d0baa00c5e	A 22-year-old female presented with the characteristic clinical features of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, prominent epicanthal folds, thin lips, small mouth, and short hands.	false
+d62e71c40b6933b5a64431b04d87ccc226f31c57	A 22-year-old female presented with the characteristic clinical features of HCS, including short stature, @PHENOTYPICFEATURE$, prominent @DISEASE$, thin lips, small mouth, and short hands.	false
+9a68cf8d509117d9cc5d65654932d786ec86d97a	A 22-year-old female presented with the characteristic clinical features of @DISEASE$, including @PHENOTYPICFEATURE$, small face, prominent epicanthal folds, thin lips, small mouth, and short hands.	false
+afbb6d7046d64037db58fcf946cb804f29311aa2	We previously reported two siblings with decreased subcutaneous adipose tissue, muscular atrophy, @PHENOTYPICFEATURE$, recurrent skin eruptions, @DISEASE$-gamma-globulinemia, and reduced natural killer cell activity.	has_symptom
+4fa82ce61ee7ecb5511d4d9595606142ef30823a	We previously reported two siblings with decreased subcutaneous adipose tissue, @PHENOTYPICFEATURE$, joint contractures, recurrent skin eruptions, @DISEASE$-gamma-globulinemia, and reduced natural killer cell activity.	false
+84139f9171fa7b5ddac4307a82c34b89af00e892	We previously reported two siblings with decreased subcutaneous adipose tissue, @PHENOTYPICFEATURE$, @DISEASE$, recurrent skin eruptions, hyper-gamma-globulinemia, and reduced natural killer cell activity.	false
+fc5bd04a9442a2da9f0c729551e378a5f62308ff	Hereditary lipo-muscular atrophy with @PHENOTYPICFEATURE$, skin eruptions and @DISEASE$-gamma-globulinemia: a new syndrome.	has_symptom
+ade1e1cb4182ab19129a385ba6e8d83984c1088a	Hereditary lipo-@PHENOTYPICFEATURE$ with @DISEASE$, skin eruptions and hyper-gamma-globulinemia: a new syndrome.	false
+c8c1833348d314858bf443b3bf362b251e06ceb0	Hereditary lipo-@PHENOTYPICFEATURE$ with joint contracture, skin eruptions and @DISEASE$-gamma-globulinemia: a new syndrome.	false
+0ff4491629005322a7511f531e83bf49233d2f2c	Eosinophilic fasciitis is a rare inflammatory disease associated with peripheral eosinophilia, @DISEASE$-gammaglobulinaemia and @PHENOTYPICFEATURE$ of any joint in the upper extremity.	has_symptom
+14d92bc28219ebb0d4b4418379bd95a96a46fe30	Eosinophilic fasciitis is a rare @DISEASE$ associated with peripheral @PHENOTYPICFEATURE$, hyper-gammaglobulinaemia and contractures of any joint in the upper extremity.	false
+3012486092738119db05c13e15806c7d8280ce7b	Eosinophilic fasciitis is a rare inflammatory disease associated with peripheral @PHENOTYPICFEATURE$, hyper-gammaglobulinaemia and @DISEASE$ of any joint in the upper extremity.	false
+ab922970be4b84dc47c2bc322f0e4786c0051bbb	Eosinophilic fasciitis is a rare inflammatory disease associated with peripheral @PHENOTYPICFEATURE$, @DISEASE$-gammaglobulinaemia and contractures of any joint in the upper extremity.	false
+f1de5742960533ae712325131d64d483b5d96404	A characteristic phenotype of @DISEASE$ 2 (CGL2) that is caused by loss-of-function of seipin gene is @PHENOTYPICFEATURE$.	has_symptom
+f1de5742960533ae712325131d64d483b5d96404	A characteristic phenotype of @DISEASE$ 2 (CGL2) that is caused by loss-of-function of seipin gene is @PHENOTYPICFEATURE$.	has_symptom
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+2a04417bdf2b97489e002dd9d42b1a8706d5bf30	Besides the typical clinical symptoms of @DISEASE$ our patient shows a severe dislocation of the hip, feeding difficulties, and a marked morphological and @PHENOTYPICFEATURE$.	has_symptom
+b67c95c6c4b47a4451563280f68a794d1aa69bce	To report the case of a newborn with recurrent episodes of @PHENOTYPICFEATURE$, diagnosed with Congenital Central hypoventilation syndrome (@DISEASE$) associated with Hirschsprung's disease (HD), configuring Haddad syndrome.	has_symptom
+11fbb72b565befec5e1b87e467a6c946c2495d5e	To report the case of a newborn with recurrent episodes of @PHENOTYPICFEATURE$, diagnosed with @DISEASE$ (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome.	has_symptom
+a174656fae71718d137309c5756fe6f48fa99467	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and @DISEASE$ was diagnosed in a 70-year-old man who presented with fever, polyarthralgia, @PHENOTYPICFEATURE$, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	has_symptom
+11250eacacd3e8efbdc519da6f75eea00fc7e7e9	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and @DISEASE$ was diagnosed in a 70-year-old man who presented with @PHENOTYPICFEATURE$, polyarthralgia, weight loss, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	false
+bf7b923ed6ea6dc9e196ed72db2052b8cb95f589	A rare simultaneous occurrence of multicentric Castleman's disease, @DISEASE$, and Kaposi's sarcoma was diagnosed in a 70-year-old man who presented with @PHENOTYPICFEATURE$, polyarthralgia, weight loss, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	false
+00ef8ec5c0bd9dc1d66530d85593f2a283804846	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and Kaposi's sarcoma was diagnosed in a 70-year-old man who presented with @PHENOTYPICFEATURE$, polyarthralgia, @DISEASE$, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	false
+266047d3921a5cd40568fcd0d5c86d20f1169b5a	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and Kaposi's sarcoma was diagnosed in a 70-year-old man who presented with @PHENOTYPICFEATURE$, polyarthralgia, weight loss, vascular purpura, @DISEASE$, generalized lymphadenopathy, and hepatosplenomegaly.	false
+0b983d15d80989a61a62b25d38de60fd91a9390b	The second group of neuroacanthocytosis syndromes includes @DISEASE$ (Bassen-Kornzweig disease) and hypobetalipoproteinemia that are characterized by the abnormal decay of lipoprotein with the intestinal malabsorption of fat leading to @PHENOTYPICFEATURE$ and acanthocytosis.	has_symptom
+819de545b6714e8ce8d2621738f739700385064a	The second group of neuroacanthocytosis syndromes includes abetalipoproteinemia (@DISEASE$) and hypobetalipoproteinemia that are characterized by the abnormal decay of lipoprotein with the intestinal malabsorption of fat leading to @PHENOTYPICFEATURE$ and acanthocytosis.	has_symptom
+50f77e6a8840134108a93a5f9ccf9e5ebbf87389	Children with @DISEASE$ exhibited multiple types of @PHENOTYPICFEATURE$, which contributed to rage attacks.	has_symptom
+eb111ef2a2be49f905ef0dc3c906bde35493a786	The most characteristic clinical features of @DISEASE$ are: opsoclonus, myoclonus, ataxia, irritability, mutism and @PHENOTYPICFEATURE$.	has_symptom
+a67fcd4770aa4b5473baebb7acad56c5968ae002	The most characteristic clinical features of @DISEASE$ are: opsoclonus, myoclonus, @PHENOTYPICFEATURE$, irritability, mutism and sleep disturbances.	false
+93c5c3a6d3ec4cbf1c137493ed3bce33ff19d80d	The most characteristic clinical features of opsoclonus-myoclonus syndrome are: opsoclonus, myoclonus, @PHENOTYPICFEATURE$, irritability, mutism and @DISEASE$.	false
+a91d849412ca53a62790d01c73094e21b8c1ce27	@DISEASE$ in adults is a rare and heterogeneous disorder with the clinical features of opsoclonus, myoclonus, ataxia, and behavioral and @PHENOTYPICFEATURE$.	has_symptom
+b3fcae3276347098e0e41f758038085ae3a819da	@DISEASE$ in adults is a rare and heterogeneous disorder with the clinical features of opsoclonus, myoclonus, @PHENOTYPICFEATURE$, and behavioral and sleep disturbances.	false
+ed096b6de59a66cd21f574dbc1dfa5ba464bff02	Opsoclonus-myoclonus syndrome in adults is a rare and heterogeneous disorder with the clinical features of opsoclonus, myoclonus, @PHENOTYPICFEATURE$, and behavioral and @DISEASE$.	false
+99ad1e69e8a7ad85b6757fc70084fdcd6470d7ab	@DISEASE$ is a very rare disorder with onset usually in the second year of life, and the clinical features of opsoclonus, myoclonus, ataxia, irritability, @PHENOTYPICFEATURE$, and, often but by no means invariably, an associated neuroblastoma.	has_symptom
+cf93405ba55c1a2fc07fbaac4a4b882a6c1ae434	Opsoclonus-myoclonus syndrome is a very rare disorder with onset usually in the second year of life, and the clinical features of opsoclonus, myoclonus, @PHENOTYPICFEATURE$, irritability, @DISEASE$, and, often but by no means invariably, an associated neuroblastoma.	false
+3e623c9165ba3cd875c1c517f73e1a4095562b77	@DISEASE$ is a very rare disorder with onset usually in the second year of life, and the clinical features of opsoclonus, myoclonus, @PHENOTYPICFEATURE$, irritability, sleep disturbance, and, often but by no means invariably, an associated neuroblastoma.	false
+73f22e2618b2a06599c1031168ac00e681eac0b3	Opsoclonus-myoclonus syndrome is a very rare disorder with onset usually in the second year of life, and the clinical features of opsoclonus, myoclonus, @PHENOTYPICFEATURE$, irritability, sleep disturbance, and, often but by no means invariably, an associated @DISEASE$.	false
+692a727e8f0e4e317721a0c83cb3c65b8cbf0586	@DISEASE$ (OMAS) is a rare neurological disorder characterized by irregular multidirectional eye movements, myoclonus, cerebellar ataxia, @PHENOTYPICFEATURE$, and cognitive dysfunction.	has_symptom
+7da5f363d350db289651a7c73d8771d0ce544355	Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder characterized by irregular multidirectional eye movements, myoclonus, @PHENOTYPICFEATURE$, @DISEASE$, and cognitive dysfunction.	false
+27a9e7bff2fcaae6ffe187c200314ff92cce3bba	@DISEASE$ (OMAS) is a rare neurological disorder characterized by irregular multidirectional eye movements, myoclonus, @PHENOTYPICFEATURE$, sleep disturbances, and cognitive dysfunction.	false
+85e8b25ad1cbdc82cd35e8ebf6e95166fc2e36bb	Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare @DISEASE$ characterized by irregular multidirectional eye movements, myoclonus, @PHENOTYPICFEATURE$, sleep disturbances, and cognitive dysfunction.	false
+8124fcd96ce0b5c47f35dfd322b0ca100c0fb420	@PHENOTYPICFEATURE$ and rage attacks in @DISEASE$: response to trazodone.	has_symptom
+18de5562b596d8267fb8d85acd1fabe046aba902	@DISEASE$ (KCS1) (OMIM 244460) is a rare syndrome characterized by @PHENOTYPICFEATURE$, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence.	has_symptom
+e9a32b3cdf342e4116cb773b49472d1f388743c4	@DISEASE$ (ARPA) is a rare movement disorder, characterized by recurrent episodes of @PHENOTYPICFEATURE$, cerebellar ataxia, and nystagmus, which has recently been characterized genetically.	has_symptom
+a60caff1acbaa5bc55a03a6134ee6828a3d8df55	@DISEASE$ (ARPA) is a rare movement disorder, characterized by recurrent episodes of vertigo, @PHENOTYPICFEATURE$, and nystagmus, which has recently been characterized genetically.	false
+e55411f657ee459e39698f168c957f8011545750	Acetazolamide-responsive periodic ataxia (ARPA) is a rare movement disorder, characterized by recurrent episodes of @DISEASE$, @PHENOTYPICFEATURE$, and nystagmus, which has recently been characterized genetically.	false
+e6cd2b66892b7f18a60e028a67eb589f619c7fe2	@DISEASE$ (ARPA) is a rare @PHENOTYPICFEATURE$, characterized by recurrent episodes of vertigo, cerebellar ataxia, and nystagmus, which has recently been characterized genetically.	false
+687905bc77048b70e923e5577d001112264d6179	Acetazolamide-responsive periodic ataxia (ARPA) is a rare @PHENOTYPICFEATURE$, characterized by recurrent episodes of @DISEASE$, cerebellar ataxia, and nystagmus, which has recently been characterized genetically.	false
+c9b808ef27dc27d05d102ec6356f21201bd624ad	At least two groups of disorders have been separated clinically: (1) @DISEASE$ (EA-1), which manifests without vertigo and is associated with 'interictal' myokymia, and (2) episodic ataxia type 2 (EA-2), which often manifests with @PHENOTYPICFEATURE$ and is associated with 'interictal' nystagmus.	has_symptom
+63945cb50616b235155828b34febb312331a6fdb	Several @DISEASE$ syndrome have been described, Here three cases of lissencephaly with developmental delay and Intractable @PHENOTYPICFEATURE$ are reported.	has_symptom
+1caa93856b3d07944af85ac6f6c189c9c8d7eddd	We analyzed inhibitory inputs, mediated by gamma-aminobutyric acid (GABA), to hippocampal interneurons in a mouse model of type 1 @DISEASE$, a neurological disorder linked with severe @PHENOTYPICFEATURE$ and brain malformation.	has_symptom
+41311b82056ec6789ed09550e9db6fa764b4c192	Previously, we reported a novel locus for @DISEASE$ (NSMR) in a consanguineous family [Nolan, D.K., Chen, P., Das, S., Ober, C. and Waggoner, D. (2008) Fine mapping of a locus for nonsyndromic @PHENOTYPICFEATURE$ on chromosome 19p13.	has_symptom
+e5f384f2cbbdfe70859e36fe971bffcc025cdc11	Non-syndromic autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) is a heterogeneous neurodevelopmental disease.	has_symptom
+d57162853619d46c6a03d19c13320eefe4f08085	Previously research has been more focused on the X-linked @PHENOTYPICFEATURE$ and only recently studies have shown that non-syndromic @DISEASE$ is extremely heterogeneous and contributes much more than the X-linked mental retardation.	has_symptom
+05679884a7f3176a32faf8d9161e1de6aab92ef8	Previously research has been more focused on the X-linked mental retardation and only recently studies have shown that non-syndromic @DISEASE$ is extremely heterogeneous and contributes much more than the X-linked @PHENOTYPICFEATURE$.	has_symptom
+013cecac1e5704d736152a365d7c5a1eb24ab529	Non-syndromic autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) is an extremely heterogeneous genetic disorder.	has_symptom
+fc6ae77b163c35706a722e3261950aeb072b9d82	Here, we examined 40 genes with a known association with non-syndromic autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) to determine if they are enriched for common variants associated with the normal range of intelligence differences.	has_symptom
+d66136946cb5347ed49747d08de5c4038adeedd2	The absence of linkage of 4 Algerian families with @DISEASE$ to 3 well known loci, confirms the genetic heterogeneity of @PHENOTYPICFEATURE$.	has_symptom
+230f6e7b764e0cce26996662d8dce2fe57d93126	@DISEASE$ (AR-MR) may account for up to 25% of genetic @PHENOTYPICFEATURE$ (MR).	has_symptom
+71a95ef981620d0b40cdbf44021bc4e378481898	Examining non-syndromic autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) genes for an enriched association with intelligence differences.	has_symptom
+3ee3907b7c428f7c651e10925e6fc03ec15a634f	Autosomal-recessive inheritance is believed to be relatively common in @PHENOTYPICFEATURE$ (MR), although only four genes for nonsyndromic @DISEASE$ (ARMR) have been reported.	has_symptom
+8a6f389b0d26b5dbd9e145056fdc6d01998e25d5	But very little is known about the genes and loci involved in nonsyndromic @DISEASE$ than the X-linked @PHENOTYPICFEATURE$.	has_symptom
+eaffa1c35762f674bac0a95818ad0e892e5bcc20	A 14-year-old boy with @DISEASE$ (MNGIE) disease had a lifelong history of failure to thrive and gastrointestinal symptoms including @PHENOTYPICFEATURE$, pain, and diarrhea, leading to progressive cachexia.	has_symptom
+15c5b20fec739ea71f26a276590616b081f6419e	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, @PHENOTYPICFEATURE$, post-axial polydactyly (PAP) (bilateral) of hands and feet.	has_symptom
+57b3038a20c1d7c8d85670fa72e0ff59f36d388b	Ellis-van Creveld syndrome is an autosomal recessive @PHENOTYPICFEATURE$ primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, @DISEASE$, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+54dced9c31fafab612ad0b7aecc6fc849973f1f9	Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, @PHENOTYPICFEATURE$, dysplastic nails, @DISEASE$, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+dc73de7cd8dbbc53e2d20a78a02fb37d9d09e9c9	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, @PHENOTYPICFEATURE$, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+1ece3a644f282377f0390472251b29c3a596f941	Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, @PHENOTYPICFEATURE$, @DISEASE$, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+77adde15f4a4918428fc126c77ba21c853f3a609	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial @PHENOTYPICFEATURE$ (PAP) (bilateral) of hands and feet.	false
+21b7c6925e4eac92149d14e5c73c9f32abb67138	Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, @DISEASE$, post-axial @PHENOTYPICFEATURE$ (PAP) (bilateral) of hands and feet.	false
+b5bfb28ba2ad04863afcd56125822c940cc0d2cc	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$ primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+6e0ca81a92b3ef38c0f3c8dfcfa57707ca498099	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, @PHENOTYPICFEATURE$, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+7fe406e1f2dc71273fcbc2c0177ee038894a4437	@DISEASE$ (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, @PHENOTYPICFEATURE$.	has_symptom
+03e33cedd380430d4c19c151520e20a177d1b053	@DISEASE$ (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, @PHENOTYPICFEATURE$, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+0f497e2b44f6e2ccb9b8eed23ada715b4d95dea3	@DISEASE$ (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, @PHENOTYPICFEATURE$, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+9a12f4c54997940091e9fff7e86958835d2c36fa	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, @PHENOTYPICFEATURE$, nail dysplasia, orofacial abnormalities and, in a proportion of patients, @DISEASE$.	false
+a5587932f70f5c88a6ceb3b522d8b33f4d4969c6	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+a77ee281f7f4ce2d80df3ab146352ec95f29e554	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising @DISEASE$, @PHENOTYPICFEATURE$, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations.	false
+45f0a7d7dc39decd3c393a0e44adfe8df7d8a44b	Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, @PHENOTYPICFEATURE$, orofacial abnormalities and, in a proportion of patients, @DISEASE$.	false
+8fb89487464fd338ab669c370a31eeccb4289031	Somatic mosaicism of a @PHENOTYPICFEATURE$ mutation of ACTA1 in @DISEASE$.	has_symptom
+9d36361deaa210fa8f6211af8cd2e9fdc41d71e8	Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, @DISEASE$, @PHENOTYPICFEATURE$, fragile X syndrome, Rett syndrome, Cornelia de Lange syndrome, and Down syndrome.	has_symptom
+b3c97f5df3608c66fa4ce749ffe7dc780e65c3ed	@PHENOTYPICFEATURE$ in @DISEASE$: the Leuven experience in 59 subjects and controls.	has_symptom
+455cf424a8511e21764264b140e9cd8cbc8cdbd4	In the present study we investigated the co-morbidity of @PHENOTYPICFEATURE$ (PDD) in 59 @DISEASE$ (PWS) individuals and in 59 non-specific mentally retarded controls, matched for IQ, gender, and age.	has_symptom
+9cd3c35b66c44d9a43b0706f4514aa1f79896e16	In the present study we investigated the co-morbidity of @DISEASE$ (PDD) in 59 Prader-Willi syndrome (PWS) individuals and in 59 non-specific @PHENOTYPICFEATURE$ controls, matched for IQ, gender, and age.	false
+a6fcc876b2fb271bb5b6123fa6442173ad85a541	In the present study we investigated the co-morbidity of pervasive developmental disorder (PDD) in 59 @DISEASE$ (PWS) individuals and in 59 non-specific @PHENOTYPICFEATURE$ controls, matched for IQ, gender, and age.	false
+2fd767c635cdca4b57efd9250df6f22159f30916	For example, holoprosencephaly is associated with @DISEASE$ genes, @PHENOTYPICFEATURE$ with L1-CAM and lissencephaly with LIS-1.	has_symptom
+6f00590235171526ea3e22cc3416bb1303544952	X-linked @PHENOTYPICFEATURE$ (XLH), holoprosencephaly (@DISEASE$), Dandy-Walker malformation (DWM), and neural tube defect (NTD) can all be discussed with respect to their available molecular genetics knowledge base and its clinical applications.	has_symptom
+c18f843cd0f9a30319324390d8855b3bae5622cc	A 27-year-old woman had congenital @DISEASE$ syndrome and @PHENOTYPICFEATURE$.	has_symptom
+3604c5506fe21d27d25718c946cc91576ccf98cd	Defective expression of 11beta-HSD2 is implicated in patients with hypertension and intra-uterine growth retardation, while 11beta-HSD1 appears to be intricately involved in the conditions of @DISEASE$, insulin resistance and visceral @PHENOTYPICFEATURE$.	has_symptom
+9f0947f0f17f1258912f29f17886827c32ee1f31	Defective expression of 11beta-HSD2 is implicated in patients with hypertension and intra-uterine @PHENOTYPICFEATURE$, while 11beta-HSD1 appears to be intricately involved in the conditions of apparent cortisone reductase deficiency, insulin resistance and visceral @DISEASE$.	false
+674ab15ee0024a5fd2b80d8a735fb4161acf702b	Defective expression of 11beta-HSD2 is implicated in patients with hypertension and intra-uterine @PHENOTYPICFEATURE$, while 11beta-HSD1 appears to be intricately involved in the conditions of @DISEASE$, insulin resistance and visceral obesity.	false
+47d8d91891520dc868a5a50f234e1d6b396605ba	@DISEASE$ (CD, OMIM #114290) is a rare autosomal dominant disease characterized with bending and shortness in the long bones of the lower extremities, typical facial features, @PHENOTYPICFEATURE$, costa defect, narrow thorax and pes equinovarus.	has_symptom
+7496c10e15b925e82bd7d787bd30eb14fde7840a	The clinical and necropsy findings of @PHENOTYPICFEATURE$, @DISEASE$ and periaqueductal gliosis, led us to believe that these indicated diencephalic epilepsy.	has_symptom
+5fab2b5ad0c5a860152925311f044e383a0f8cc4	Chronic @DISEASE$, most commonly the result of @PHENOTYPICFEATURE$, is associated with both primary and secondary amenorrhea.	has_symptom
+f85c5c15d964358835dd0c677be6af1492e82de1	Parkinsonism-like syndrome complicating @DISEASE$ is a rare disorder, especially when associated with nontumoral @PHENOTYPICFEATURE$.	has_symptom
+618b42b7ac4a65c965b1088d430737f7bd815796	@PHENOTYPICFEATURE$ is a common cause of fetal @DISEASE$.	has_symptom
+014bafa5b81991de8785b571a9a29a19beb896a2	Myelomeningocele-associated hydrocephalus, @PHENOTYPICFEATURE$, Dandy-Walker malformation, and postmeningitic @DISEASE$ are common causes of hydrocephalus.	has_symptom
+17d2f5725229d3a90a37502ba623d6bd7be0be17	Myelomeningocele-associated hydrocephalus, @PHENOTYPICFEATURE$, Dandy-Walker malformation, and postmeningitic hydrocephalus are common causes of @DISEASE$.	has_symptom
+4660d626633d17464ee03d24276d7ef006ed4d15	Myelomeningocele-associated @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, and postmeningitic hydrocephalus are common causes of hydrocephalus.	false
+751d3511bdced72d603a3aec26ef960171854c94	Myelomeningocele-associated @PHENOTYPICFEATURE$, aqueductal stenosis, Dandy-Walker malformation, and postmeningitic hydrocephalus are common causes of @DISEASE$.	false
+afd79faad3859278ccf42cdb98d699ac483b22ab	Myelomeningocele-associated @PHENOTYPICFEATURE$, aqueductal stenosis, Dandy-Walker malformation, and postmeningitic @DISEASE$ are common causes of hydrocephalus.	false
+a0624c77054883f78cffd7ec33d699e73267c892	@PHENOTYPICFEATURE$, @DISEASE$ or intracranial hypertension are not previously described in this syndrome.	has_symptom
+cdc52faf45b37f8e0307e2a109bffe483aaee14e	In two adults, both schizophrenia and @DISEASE$ were associated with @PHENOTYPICFEATURE$.	has_symptom
+35eb89763d2b481397b23ece2b3f1bae7e8cbd4a	Parkinsonian syndrome in the course of @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+e5d3f6c068ed337c281c88f3e1208b1c5a52cd9c	Inherited @DISEASE$ in the H-Tx rat: the ventricular system in late-gestation and neonatal @PHENOTYPICFEATURE$.	has_symptom
+2a8733b45cb1f87b720b1c8d3a1ed3425a0654c2	@PHENOTYPICFEATURE$ is a common cause of @DISEASE$ during infancy.	has_symptom
+b0e23d2cf7a1c4348afb16787d527768a8ec072d	@DISEASE$ (OI) is anecdotally associated with @PHENOTYPICFEATURE$, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	has_symptom
+5e32ac558f1cefaebe32f8f9df867b0e48263b1f	Osteogenesis imperfecta (OI) is anecdotally associated with @DISEASE$, hydrocephalus, basilar invagination, and @PHENOTYPICFEATURE$, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+a5b82d3839d872aa733644c1425c77c3b26fbe1f	@DISEASE$ (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and @PHENOTYPICFEATURE$, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+bc9a1899f38cdcb9f90fc11a427515e787e1af0e	Osteogenesis imperfecta (OI) is anecdotally associated with @DISEASE$, @PHENOTYPICFEATURE$, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+ab47a1e48b24f299d561a44363032e531a450ad3	@DISEASE$ (OI) is anecdotally associated with macrocephaly, @PHENOTYPICFEATURE$, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+8aa3d28a8e1955c462e6ea3a61e2a087dcbcbae4	[A syndrome of @DISEASE$, @PHENOTYPICFEATURE$, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)].	has_symptom
+de8fdb88ff667806655dbe44b9daab72b3125170	@DISEASE$ is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including @PHENOTYPICFEATURE$, macrosomia, asymmetry and mental retardation.	has_symptom
+6596114a4d5b33f9fc860a93a7d64d7f0fd899c7	Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including @DISEASE$, macrosomia, asymmetry and @PHENOTYPICFEATURE$.	false
+dbe6a35aacf4e28e3d5797ca530f4646b3f4ed77	Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with @DISEASE$, including macrocephaly, macrosomia, asymmetry and @PHENOTYPICFEATURE$.	false
+21e3309f62efc284f25b267a4d3e53dbc9736370	@DISEASE$ is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and @PHENOTYPICFEATURE$.	false
+d3cda6f134479159c2b3383acfd88436bc7eb9e6	The patient reported herein presented @DISEASE$ characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry.	has_symptom
+58d08dec9cbbe5a7429edb1d6fff2196137dff4c	The patient reported herein presented @DISEASE$ characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @PHENOTYPICFEATURE$, and body asymmetry.	false
+3927411f42d47ccc5af12bb31cb3676e6b86a940	The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial @DISEASE$, @PHENOTYPICFEATURE$, and body asymmetry.	false
+0d9437dd88d206f67d3a5dd9e21e011a693ceda0	The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by @DISEASE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @PHENOTYPICFEATURE$, and body asymmetry.	false
+019d32c0bd631b62060697748a254eb6138cecc6	The patient reported herein presented @DISEASE$ characterized by @PHENOTYPICFEATURE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly and asymmetry.	has_symptom
+e3f846068850a7f2ccd49222f7d32d7b8cae075a	The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial @DISEASE$, @PHENOTYPICFEATURE$ and asymmetry.	false
+112cac81b46b56cbab1c1ceac5b90d30814b9a1d	The patient reported herein presented @DISEASE$ characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @PHENOTYPICFEATURE$ and asymmetry.	false
+707ef3921406f279e53a79806b22070930c9d2c7	The patient reported herein presented macrocephaly-cutis marmorata telangiectatica congenita syndrome characterized by @DISEASE$ and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, @PHENOTYPICFEATURE$ and asymmetry.	false
+f5c6f62bbbb231006d11d7bd78ae1f8f58c5efdb	@DISEASE$ is characterized by cutaneous vascular malformations with associated anomalies as @PHENOTYPICFEATURE$, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities.	has_symptom
+6ebde49410dcc2ff8caff31566843e7908947caa	The condition known as @DISEASE$ (M-CMTC) is a rare congenital syndrome of unknown etiology characterized by @PHENOTYPICFEATURE$ and vascular lesions that have been described as either cutis marmorata or cutis marmorata telangiectatica congenita (CMTC).	has_symptom
+57d98d51e6da838dc17a03f9acb36c92417f369c	@DISEASE$ (MPS III) is characterized by progressive neurological deterioration, @PHENOTYPICFEATURE$, a relatively mild somatic phenotype, and early mortality.	has_symptom
+c19e2ae201fbd0f2107459d169ea1de94e4582df	Some special types of @PHENOTYPICFEATURE$ are often encountered in clinical paractice, such as @DISEASE$ (GIST), gastric neuroendocrine tumors (NETs), primary gastric lymphoma (PGL) and some special types of gastric cancer.	has_symptom
+48e7adecd6e852a00e15d3cf414f5c6ef6cfa1df	We report a case of @DISEASE$ in a 33 year-old man with mild chorea of the limbs but no @PHENOTYPICFEATURE$ of the face, areflexia, epilepsy and personality changes.	has_symptom
+637c4957612ab316134745ca667d16f5a9e3c9f4	@DISEASE$ (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with @PHENOTYPICFEATURE$, joint laxity with dislocation(s), limb malalignment, and spinal deformity.	has_symptom
+cf6a7e8e993ce7e8c68548a666133e8b06812589	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant @PHENOTYPICFEATURE$ manifesting with @DISEASE$, joint laxity with dislocation(s), limb malalignment, and spinal deformity.	false
+dd39c69dc7dca352c8ec1a39ef8917abe7a44a28	@DISEASE$ (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant @PHENOTYPICFEATURE$ manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity.	false
+9e4d4783777900a2e7bbec204bce0d317ca4f2fb	A 50-year-old woman with abdominal fullness, lower @PHENOTYPICFEATURE$, elevated serum CA125, and ascites, underwent neoadjuvant chemotherapy with 6 courses of PTX/CBDCA followed by total hysterectomy, bilateral salpingo-oophorectomy, omentectomy, and intrapelvic peritoneal stripping based on a diagnosis of @DISEASE$(SSPC) of the peritoneum.	has_symptom
+2294908a37fb4ec9edfe64cabb5ae1a2ee052bab	The pathophysiology of the @PHENOTYPICFEATURE$ in TS is not known, but theories regarding estrogen deficiency, the cell cycle delay hypothesis, @DISEASE$ and the possible role of the KDM6A gene are discussed.	has_symptom
+21bf4a2b73b6d832c4385c33dbf82617e4ceab67	The spectrums of associated abnormalities in the @DISEASE$ growth retardation with @PHENOTYPICFEATURE$ and mental retardation syndrome (OMIM no.	has_symptom
+a895029b96711a0a0a6261cb539e52728a52d05b	The spectrums of associated abnormalities in the @DISEASE$ growth retardation with sensorineural deafness and @PHENOTYPICFEATURE$ syndrome (OMIM no.	false
+c093c9284d4decee837e3601f013f82f61f94df2	The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with sensorineural deafness and @PHENOTYPICFEATURE$ @DISEASE$ (OMIM no.	false
+9a63b38709b984e6042ddfb37e19d62870186cd4	The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with @DISEASE$ and @PHENOTYPICFEATURE$ syndrome (OMIM no.	false
+2c6013bb1221b33810ea2efa9ae87c29dc90f21d	Recurrent @DISEASE$  with @PHENOTYPICFEATURE$ and choroidal thickening.	has_symptom
+bfc000a4c29794e58044e848f41f0e66531ef2e0	FA, @DISEASE$ (DC), and Diamond-Blackfan anemia (DBA) are inherited bone marrow failure syndromes (IBMFS) associated with high risks of bone marrow failure, leukemia, and solid @PHENOTYPICFEATURE$.	has_symptom
+be37e90318ae46fa6bb53eb223f0c8734e44327a	Mutations in DKC1 cause @DISEASE$ (DC), a disease characterized by premature aging and increased @PHENOTYPICFEATURE$ susceptibility.	has_symptom
+52fb8de4d76a91c804ddfa0c1d3f7495fb2c938b	A significant feature of @DISEASE$ is an increased susceptibility to cancer; so far, however, no data have been reported on dyskerin changes in human @PHENOTYPICFEATURE$.	has_symptom
+122138be7944d0c91d0f3b5953bdebeefb24e638	We herein report the second case of hepatic angiosarcoma arising from @DISEASE$: a 23-year-old man was introduced to our hospital due to the detection of multiple @PHENOTYPICFEATURE$ in the liver.	has_symptom
+196d2c30b352efe9a3d2ee907d7a2d91112ae55d	Telomere dysfunction and @PHENOTYPICFEATURE$ suppression responses in @DISEASE$: balancing cancer and tissue renewal impairment.	has_symptom
+42109f83f75641b86c74dda5351235ca0ceda624	@DISEASE$ is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and @PHENOTYPICFEATURE$.	has_symptom
+9c9d6ebad450e00625a8cb853ecdbe58772de792	Different types of @PHENOTYPICFEATURE$ have been reported in association with @DISEASE$.	has_symptom
+997318cc771a5a08bbd9397d20f3a470070913d7	@DISEASE$ is a multisystem disorder with an increased incidence of @PHENOTYPICFEATURE$ and opportunistic infections.	has_symptom
+e71e34300d315b1403f129eed586276ffbe6e078	@DISEASE$ is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to @PHENOTYPICFEATURE$ in early adult life.	has_symptom
+6add51588c06dc78569155f99276f2a2e0c35da4	In light of the recent findings, this review focuses on the molecular pathogenesis of dyskeratosis congenita, discussing how a defect in ribosomal function might impact on the translation of a subset of mRNAs encoding for @PHENOTYPICFEATURE$ suppressors, thus providing an explanation for the apparent paradox of @DISEASE$ in which reduced cell proliferation is associated with cancer susceptibility.	has_symptom
+3f0cabeaa1d7218384c48d09359b648a87efe427	In light of the recent findings, this review focuses on the molecular pathogenesis of @DISEASE$, discussing how a defect in ribosomal function might impact on the translation of a subset of mRNAs encoding for @PHENOTYPICFEATURE$ suppressors, thus providing an explanation for the apparent paradox of dyskeratosis congenita in which reduced cell proliferation is associated with cancer susceptibility.	has_symptom
+6ca241d5219c8209a035edea0cc198ba5735f75e	The diagnosis of hyperornithinemia and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) @PHENOTYPICFEATURE$, (4) @DISEASE$, and (5) autosomal recessive inheritance.	has_symptom
+da5abceb22b414bc44e706b2d9cc21287ca1f75f	The diagnosis of hyperornithinemia and @DISEASE$ (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) @PHENOTYPICFEATURE$, (4) hyperornithinemia, and (5) autosomal recessive inheritance.	has_symptom
+8cd6dd6e9c0515409359726ea839139db0d99c45	The diagnosis of @DISEASE$ and gyrate atrophy (HOGA) depends upon the presence of five characteristic features: (1) typical chorioretinal lesions, (2) high myopia, (3) @PHENOTYPICFEATURE$, (4) hyperornithinemia, and (5) autosomal recessive inheritance.	has_symptom
+6ae6903663bb9bc971854208f4b58df3d45aec38	The clinical appearance of the @PHENOTYPICFEATURE$ in nine phakic patients with @DISEASE$ of the choroid and retina is described.	has_symptom
+2dc1e78ed832c31f69db03be5b7119f6bb7ec60b	Gyrate atrophy is a rare metabolic disease characterized by @DISEASE$, typical retinal and choroidal lesions, high myopia with marked astigmatism, early @PHENOTYPICFEATURE$ formation, and autosomal recessive inheritance pattern.	has_symptom
+39257a7ce0e82f0e40e2d3f8b0588dda1cfea987	@DISEASE$ is a rare metabolic disease characterized by hyperornithinemia, typical retinal and choroidal lesions, high myopia with marked astigmatism, early @PHENOTYPICFEATURE$ formation, and autosomal recessive inheritance pattern.	has_symptom
+3e8eed75d488f4cc935ec1bf5823ebf66f4db3c6	Contact dermatitis to nickel and early @PHENOTYPICFEATURE$ in two sisters with @DISEASE$.	has_symptom
+548417eed1d1a1a68d1feaff583057cf0a6dfde7	Posterior subcapsular cataracts of RCS rats are a model for @PHENOTYPICFEATURE$ associated with human hereditary retinal degenerations, such as retinitis pigmentosa and @DISEASE$.	has_symptom
+047e48c9e1108ea329d9d0ba6443787112c38f0d	By the second decade, @PHENOTYPICFEATURE$ is a uniform finding in patients with @DISEASE$ and appears to be unique as compared with cataracts associated with other forms of retinal degeneration.	has_symptom
+61eded356509e14d1419b23d60f290b7dfbf3b14	By the second decade, cataract is a uniform finding in patients with @DISEASE$ and appears to be unique as compared with @PHENOTYPICFEATURE$ associated with other forms of retinal degeneration.	has_symptom
+b4b33cb7858943797708e67d4733a780bb15f7f9	@DISEASE$ of choroid and retina with myopia, @PHENOTYPICFEATURE$ and systemic proximal myopathy: A rare case report from rural India.	has_symptom
+311bbc457ded828431af97e053078614d49c4192	Hyperornithinaemia @DISEASE$ (HOGA) is a rare autosomal recessive disorder in which chorioretinal degeneration occurs with @PHENOTYPICFEATURE$, myopia, and hyperornithinaemia.	has_symptom
+46f5dd19cd56730eaf223c3434494e902378e186	Deficiency of this enzyme causes @DISEASE$ of the choroid and retina, an autosomal recessive hereditary disease characterized by the triad of progressive chorioretinal degeneration, early @PHENOTYPICFEATURE$ formation, and type II muscle fiber atrophy, with hyperornithinemia.	has_symptom
+4f6e03341943ec9afeb4475ccdc31e175576fcb6	Deficiency of this enzyme causes gyrate atrophy of the choroid and retina, an autosomal recessive hereditary disease characterized by the triad of progressive chorioretinal degeneration, early @PHENOTYPICFEATURE$ formation, and type II muscle fiber atrophy, with @DISEASE$.	has_symptom
+32af8f1188af8e63643760081c9faff67a5d3556	Anterior subcapsular plaque @PHENOTYPICFEATURE$ in hyperornithinaemia @DISEASE$--a case report.	has_symptom
+6f3f816c8ed3184810e3dd4fe821739e37812a30	These results, which are comparable to those obtained by the more laborious column chromatography, could be summarized as follows: (1) proinsulin values in lean, young normal subjects do not vary greatly in response to insulin secretagogues; (2) proinsulin secretion in response to glucose results in a greater percentage of proinsulin in the older age group than in the younger group; (3) in lean adult and juvenile diabetic patients, the percentage of proinsulin is not excessive, whereas obese diabetics and pregnant diabetics appear to secrete relatively greater proinsulin than their diabetic controls; and (4) whereas most hyperinsulinemic states (Cusing's syndrome, adult-onset diabetics, acromegaly, and glucocorticoid therapy) are not associated with an increase in percentage of proinsulin, @PHENOTYPICFEATURE$ of insulinoma, selected cases of functional hypoglycemia, and genetic @DISEASE$ are associated with a greater percentage of proinsulin.	has_symptom
+4345c06f1f802cb6375cf77f5af740f6d324868c	Increased risk of coronary heart disease (CHD) in conditions characterized by insulin resistance has been associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+20f9ec76afc5fd590302080ca91b9199765953a5	Already in this phase, there is an increased risk of cardiovascular complications, and many IGT subjects, like NIDDM patients, often display several of the metabolic and circulatory disturbances that are associated with hyperglycemia, e.g., insulin resistance, @PHENOTYPICFEATURE$ and/or @DISEASE$, delayed insulin release, dyslipidemia, and hypertension.	has_symptom
+eab7a41f809c33711dfa0388a330828093505961	Both regimens cause basal @PHENOTYPICFEATURE$ but normalize the @DISEASE$ observed during failure of oral agent therapy.	has_symptom
+f648735bf76608d9af033c3bc3d2890e01c31a06	Some mutations of the insulin gene cause @PHENOTYPICFEATURE$ or @DISEASE$.	has_symptom
+3d3d2ee2001329f06c46388755f4a8e06cf12875	This study reports the effect of concomitant exposure of rats to MET and IDPN on @PHENOTYPICFEATURE$ in rats namely excitation, circling and chorea (@DISEASE$) syndrome.	has_symptom
+573fee727ed29e95d9bdd15b2d4869e5dd43f0ad	Whether the reduction in urinary albumin concentration by angiotensin-converting enzyme inhibitors can delay the development of progressive @PHENOTYPICFEATURE$ in @DISEASE$ patients remains to be established.	has_symptom
+3f0b0d7017383421cbc4d1c89b126c3854cbe99a	Advanced @PHENOTYPICFEATURE$ in patients with @DISEASE$: clinical course and prognosis.	has_symptom
+1cd48210b8b1acc2aa5d9d1665da48ec3c46d590	@DISEASE$, nephrotic syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+68cfee47dcc82a28df7f4d20a82c9405a6356af8	Letter: Dialysis for @PHENOTYPICFEATURE$ in patient with @DISEASE$.	has_symptom
+588835532db96041be4b43f0b34568d7d417a969	Thirty-six patients developed sickle @PHENOTYPICFEATURE$: 4.2% of patients with @DISEASE$ and 2.4% of patients with sickle C disease.	has_symptom
+abfbe3c8fe1f0aa59db6b4c67f6f9f13eed02b14	Sickle cell anemia-associated nephropathy is a growing matter of concern because @PHENOTYPICFEATURE$ affects most aging @DISEASE$ patients.	has_symptom
+bf494c44f774bb01edf2110ca3f7864443a7ec7e	@DISEASE$-associated nephropathy is a growing matter of concern because @PHENOTYPICFEATURE$ affects most aging sickle cell anemia patients.	has_symptom
+310593682472712a26827423d46b3b327f9c3150	Glomerular disease and @PHENOTYPICFEATURE$ cause substantial morbidity for patients with @DISEASE$ (SCD).	has_symptom
+ec0b1d4188b636ab4b1baeca858729fe7800bdd1	Vaso-occlusive events in pediatric @DISEASE$ (SCD) may cause various renal complications and lead to @PHENOTYPICFEATURE$.	has_symptom
+8ccde4e1919f00fb71af4d70c2308bbc9f4f3052	Angina pectoris, hyperkalemia, and severe anemia complicated chronic dialysis, suggesting that early transplantation should be considered for @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+7a35db11e7ae539da6371f36a7fea820c905b05f	@DISEASE$ is an inherited, structural hemoglobin defect with multisystemic sequelae including @PHENOTYPICFEATURE$.	has_symptom
+1e625d22ce3ed2e50aabc60231671299eb082039	Patients with @DISEASE$ type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular @PHENOTYPICFEATURE$.	has_symptom
+27f78b4ab8e325ac848482220f6e981e7d168754	Patients with @DISEASE$ type I (USH1) have retinitis pigmentosa, profound @PHENOTYPICFEATURE$, and vestibular ataxia.	false
+3001a4f2f1e6902e26c710b0676ab22ec074d923	Patients with Usher syndrome type I (USH1) have @DISEASE$, profound @PHENOTYPICFEATURE$, and vestibular ataxia.	false
+93ec8e9d3648bd0a2f676851a751775617e31542	Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound @PHENOTYPICFEATURE$, and vestibular @DISEASE$.	false
+22997fd24002b09fbf6a7f3745fd81bdca964c07	@DISEASE$ type I (USH1) is a recessively-inherited disorder consisting of retinitis pigmentosa, profound congenital deafness, and vestibular @PHENOTYPICFEATURE$.	has_symptom
+c6fbfedb0db5ad314c3b571bd214dd8b97ba7edb	Usher syndrome type I (USH1) is a recessively-inherited disorder consisting of retinitis pigmentosa, profound @PHENOTYPICFEATURE$, and vestibular @DISEASE$.	false
+e45a11c79e5e0f24f5a35201c1f092e12ecb0aa9	Usher syndrome type I (USH1) is a recessively-inherited disorder consisting of @DISEASE$, profound @PHENOTYPICFEATURE$, and vestibular ataxia.	false
+3808ce78d3279c6cdeca1680bb10147f272a3db2	@DISEASE$ type I (USH1) is a recessively-inherited disorder consisting of retinitis pigmentosa, profound @PHENOTYPICFEATURE$, and vestibular ataxia.	false
+7731b0d19573664423103a4e708e881f5500e275	@DISEASE$ is a syndrome characterized by exertion related scleroderma-like skin changes, peripheral @PHENOTYPICFEATURE$, hypergammaglobulinemia and diffuse faciitis.	has_symptom
+d14a667eab42d4f1b14854c1d9a6e03728a71fd3	@DISEASE$ is a syndrome characterized by exertion related scleroderma-like skin changes, peripheral eosinophilia, @PHENOTYPICFEATURE$ and diffuse faciitis.	false
+a76e3db1512b1aa38fa35f02cba715dd045aad81	Eosinophilic Fasciitis is a syndrome characterized by exertion related scleroderma-like skin changes, peripheral @DISEASE$, @PHENOTYPICFEATURE$ and diffuse faciitis.	false
+e141e42a8bf1e371beb5b9017e12ba1e64cd12ff	@DISEASE$ (EF) is characterized by the presence of scleroderma-like changes in the skin, inflammation and thickening of the fascia, associated with peripheral @PHENOTYPICFEATURE$.	has_symptom
+171e4bb84c0eb330d4017255284d633efba38648	Speech inconsistency is a core feature of CAS and is efficacious in differentiating between children with @DISEASE$ and @PHENOTYPICFEATURE$; however, sensitivity and specificity are stimuli dependent.	has_symptom
+2166c62662064c6b1484f72e139ae56ccc1df872	Speech inconsistency is a core feature of @DISEASE$ and is efficacious in differentiating between children with CAS and @PHENOTYPICFEATURE$; however, sensitivity and specificity are stimuli dependent.	has_symptom
+648a830152a18f0feb9d20942f94b9dbd5e401e8	The current research sought to determine (a) if speech inconsistency is a core feature of childhood apraxia of speech (CAS) or if it is driven by comorbid language impairment that affects a large subset of children with CAS and (b) if speech inconsistency is a sensitive and specific diagnostic marker that can differentiate between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+5fdf5eb8f4acc0e534525acaa6c591dbaf7eba0a	The current research sought to determine (a) if speech inconsistency is a core feature of childhood apraxia of speech (CAS) or if it is driven by comorbid language impairment that affects a large subset of children with @DISEASE$ and (b) if speech inconsistency is a sensitive and specific diagnostic marker that can differentiate between CAS and @PHENOTYPICFEATURE$.	has_symptom
+06eb2652d60a563e093041ba071e8b43ec75ae9e	The current research sought to determine (a) if speech inconsistency is a core feature of childhood apraxia of speech (@DISEASE$) or if it is driven by comorbid language impairment that affects a large subset of children with CAS and (b) if speech inconsistency is a sensitive and specific diagnostic marker that can differentiate between CAS and @PHENOTYPICFEATURE$.	has_symptom
+65624faafad12581c34d78720c5eab2ae7aab801	The goal of this article is to introduce the pause marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech (@DISEASE$) from @PHENOTYPICFEATURE$.	has_symptom
+8aba7ace67e6791aaefe8f0268b728342b9d2c6a	The identification of @DISEASE$ in this patient provides a novel explanation for the previously reported @PHENOTYPICFEATURE$ and expressive language disorder.	has_symptom
+28fa74fc20b2a83bf397c52646d9f103d0266fac	@PHENOTYPICFEATURE$ was found in all patients, which could be defined as @DISEASE$ when patients had been evaluated by a speech therapist (5/9 patients).	has_symptom
+82da53d591a411cb6a19ba2a3f57d35ca8218ff4	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) @PHENOTYPICFEATURE$-typical language (140), (c) speech delay-language impairment (70), and (d) idiopathic or neurogenetic @DISEASE$ (40).	has_symptom
+b8b650a9dc40a861134af4e953468fb0d6be3e86	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) speech delay-typical language (140), (c) @PHENOTYPICFEATURE$-language impairment (70), and (d) idiopathic or neurogenetic @DISEASE$ (40).	has_symptom
+20672b1e91ac687a4fb4927eb8c0dd6216c6c6db	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) speech delay-typical language (140), (c) @DISEASE$-@PHENOTYPICFEATURE$ (70), and (d) idiopathic or neurogenetic CAS (40).	false
+c14dbeb4b9eb384fae6bc3c346dc198da9ada43f	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) speech delay-typical language (140), (c) speech delay-@PHENOTYPICFEATURE$ (70), and (d) idiopathic or neurogenetic @DISEASE$ (40).	false
+1c3500cde97707413b9e98e2a4bbf86f20f7c7e2	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) @DISEASE$-typical language (140), (c) speech delay-@PHENOTYPICFEATURE$ (70), and (d) idiopathic or neurogenetic CAS (40).	false
+e87062133b85c1c609243f216e224939fe22ace2	Readers of this article should be able to (i) describe the motivation for investigating the role of auditory feedback in children with CAS; (ii) report the effects of feedback attenuation on speech production in children with @DISEASE$, @PHENOTYPICFEATURE$, and typical development, and (iii) understand how the current findings may support a feedforward program deficit in children with CAS.	has_symptom
+631d76c1b90497109197c25614888cc7ab17bc5b	Readers of this article should be able to (i) describe the motivation for investigating the role of auditory feedback in children with @DISEASE$; (ii) report the effects of feedback attenuation on speech production in children with CAS, @PHENOTYPICFEATURE$, and typical development, and (iii) understand how the current findings may support a feedforward program deficit in children with CAS.	has_symptom
+15d29f9dd1baa292f8be4c3771ec6fc943b72368	Readers of this article should be able to (i) describe the motivation for investigating the role of auditory feedback in children with CAS; (ii) report the effects of feedback attenuation on speech production in children with CAS, @PHENOTYPICFEATURE$, and typical development, and (iii) understand how the current findings may support a feedforward program deficit in children with @DISEASE$.	has_symptom
+8295f66dccca4841e8775322dce42f8c0851eb6f	We used an auditory masking paradigm to determine the effect of attenuating auditory feedback on speech in 30 children: 9 with @DISEASE$, 10 with @PHENOTYPICFEATURE$, and 11 with typical development.	has_symptom
+884604c82e92b752c9b513d013fa8d0bc8fe2fe9	This study examined speech perception abilities among children with @DISEASE$ with and without language impairment compared to those with language impairment, @PHENOTYPICFEATURE$, and typically developing peers.	has_symptom
+83a875f62f03beebcf17c74b1776f48bd52b7424	This study examined speech perception abilities among children with CAS with and without language impairment compared to those with @PHENOTYPICFEATURE$, @DISEASE$, and typically developing peers.	false
+45738e63877d11202c1c68daf065b4ba129c736c	This study examined speech perception abilities among children with @DISEASE$ with and without language impairment compared to those with @PHENOTYPICFEATURE$, speech delay, and typically developing peers.	false
+d8c0c3a4f49a1e691af0ca341e18f92a4d13924b	Participants with @DISEASE$ and AAS had significantly lower scores than typically speaking reference participants and @PHENOTYPICFEATURE$ controls on measures posited to assess representational and transcoding processes.	has_symptom
+f1bdef7a1a3584d1a3636657ef0eca5ff4a86656	Two children with @DISEASE$ (Engelmann's disease) were initially diagnosed as having a neuromuscular disorder because of their clinical presentations of muscle weakness, a waddling gait, and @PHENOTYPICFEATURE$.	has_symptom
+a8db1767bc4e404b416ca012380378310b73a64c	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe @PHENOTYPICFEATURE$, and progressive joint contractures in some patients.	has_symptom
+0282ad8288b713f10f9411e4efa1df42ef5e440f	Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe @DISEASE$, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+a6679651d0a75902b825eca8a79787ed2914905e	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients.	false
+083ba2458f36fd0d75ff6deca5abba429c88f2eb	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+6aa5a44327aec9417e37e86b39198c0e56c71140	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, @PHENOTYPICFEATURE$, severe limb pain, and progressive joint contractures in some patients.	false
+42f505e1f781b648088e0aec81f7083638208e04	Camurati-Engelmann disease is characterized by @PHENOTYPICFEATURE$ of the long bones and the skull, muscle atrophy, severe @DISEASE$, and progressive joint contractures in some patients.	false
+b58674a850342ad7dfac1d5cf74498ff4ff3fcd4	Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, @PHENOTYPICFEATURE$, severe @DISEASE$, and progressive joint contractures in some patients.	false
+5b8a44acd093a4d2edc2a334c47ef8f2d6e22265	The spectrum of clinical manifestations in @DISEASE$ is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutaneous anomalies in association with intellectual disability and @PHENOTYPICFEATURE$.	has_symptom
+e8336b6c4c8a513d30bb4161d6b4f08da6d390ca	The spectrum of clinical manifestations in @DISEASE$ is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutaneous anomalies in association with @PHENOTYPICFEATURE$ and seizures.	false
+9f6fa7ff1b6833b838165019c7c46762a290436c	The spectrum of clinical manifestations in Pallister-Killian syndrome is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutaneous anomalies in association with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9d85bdc7210b20aad603879747362cfb012a8450	Anesthetic management of @DISEASE$ using a Bispectral Index monitor in a patient with severe @PHENOTYPICFEATURE$.	has_symptom
+cda01274506c4894fcfd7b3252c99dacddd3a8ef	A better electroclinical characterization of @PHENOTYPICFEATURE$ in @DISEASE$ using appropriate polygraphic tests (video-electroencephalography, electromyography) may lead to an early diagnosis and specific treatment for this form of epileptic spasms caused by this rare syndrome.	has_symptom
+35a9b1c3238e95d03c04d90f5e02eb153c205136	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, @PHENOTYPICFEATURE$, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	has_symptom
+b436458d16d035891d8bcd51af013c38aadd4c76	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, @DISEASE$, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+60f860d1fb8a780386cb8832b2ce4012f729ac42	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, @DISEASE$, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+369682d840050746b3151e5dfc06d4464fca4b38	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, seizures, differences in skin @DISEASE$, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+c8af3419294fe5fbc00d8c443ff5db146bfe646d	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by @PHENOTYPICFEATURE$, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin @DISEASE$, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+13b29181a0c28614c43c5605b6a9217b5203fbc6	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+07f856c8553e943fb54748fabb9b870fd98ad54b	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by @PHENOTYPICFEATURE$, variable developmental delay and intellectual impairment, hypotonia, @DISEASE$, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+ca6dfdd1402ad1291455e2d61201138a44342edb	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by @PHENOTYPICFEATURE$, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+f9e6d339d3e334d2de37898b692e42994494e496	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+02348ccb6414d1d3c9cb99d9e0d3efd10c7454f3	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, @DISEASE$, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+538f2a9b3d6f3b2932ae642f2c0e6e538a17c3d4	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin @DISEASE$, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+d208e3fba7d48a7ae8d87131387af5364b33ef62	Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by @PHENOTYPICFEATURE$, variable developmental delay and intellectual impairment, hypotonia, hearing loss, @DISEASE$, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+8ed86761240a2791714087d93c3924fdf540aacf	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+1b76e4b0f432a1d5ba1c60c824980311165d92bc	@DISEASE$ (PKS) is a genetic disorder characterized by mental retardation, @PHENOTYPICFEATURE$, streaks of hypo- or hyperpigmentation and dysmorphic features.	has_symptom
+a8d6a261ffc4d0b66344875e0520f37e20d0ed40	Pallister-Killian syndrome (PKS) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, seizures, streaks of hypo- or hyperpigmentation and dysmorphic features.	false
+e4cfacb9578b6f6112a25f8c0ba2a1f85924fe6b	@DISEASE$ (PKS) is a genetic disorder characterized by @PHENOTYPICFEATURE$, seizures, streaks of hypo- or hyperpigmentation and dysmorphic features.	false
+91205e339969e218c3b4365322dbb452faef9f14	Pallister-Killian syndrome (PKS) is a genetic disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, streaks of hypo- or hyperpigmentation and dysmorphic features.	false
+cae2e1c516c2dd801ca4f60df2e6431bfe3f3aa3	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, @PHENOTYPICFEATURE$, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	has_symptom
+3e371e4351bfdf96ae0d272416c12ceab3d89e4b	Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, @DISEASE$, @PHENOTYPICFEATURE$, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+0c84b89fe8428b4f6f8d586495d36f66ec669bfb	Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, @PHENOTYPICFEATURE$, @DISEASE$, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+8cd3b6b327da9053f251a2548b0400610dc7fce7	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, @PHENOTYPICFEATURE$, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+2618aad9f5798dd6fa9c39b2194f5991f6875bae	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, @PHENOTYPICFEATURE$, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+4278a94866eeeee1d7b55add22e93141f9af0184	Pallister-Killian syndrome is a rare disorder characterized by multiple @DISEASE$, coarse face, @PHENOTYPICFEATURE$, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+156eec140135f863db23e93d36109c36f02ff7d9	Pallister-Killian syndrome is a rare disorder characterized by multiple @DISEASE$, coarse face, pigmentary skin changes, seizures, @PHENOTYPICFEATURE$, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+2924363fb8806f35c8b109389f92a027e8bc03eb	@PHENOTYPICFEATURE$ have been reported in 40% of patients with @DISEASE$ but are poorly described.	has_symptom
+b2e6a4db89fb7b0e0cbfa5b82df04a47e8264a27	@PHENOTYPICFEATURE$ characteristics in @DISEASE$.	has_symptom
+aba3e28082313c9807927bf6ace84787268bb3ce	@PHENOTYPICFEATURE$ and EEG patterns in @DISEASE$: 13 new Italian patients.	has_symptom
+302394a960e0f63fd0ec5e5fe19d730d596be6dc	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, @PHENOTYPICFEATURE$, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	has_symptom
+af72d9a3edc9495d46fcafbf3dc5306e0e772918	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, @DISEASE$, seizures, pigmentary skin differences, temporal @PHENOTYPICFEATURE$, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+5153496200d85d0036f1921faaa9a3268221ce36	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, @DISEASE$, pigmentary skin differences, temporal @PHENOTYPICFEATURE$, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+2089b1ce88e2981f2fe461fcd1027ce7d1a9b153	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+82ffee8713c008dd3186114183baff6ac622f522	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by @DISEASE$ anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+b3b5c024daf5fbd976addb539d26309e9163f156	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by @DISEASE$ anomalies, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+220ecb31f11e6f94b31e13b59c923b8de52fb8a0	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by @DISEASE$ anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal @PHENOTYPICFEATURE$, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+adfc753a5c35e20ba7d4cc0d2c4a11dc6c0c6702	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, @DISEASE$, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+a8747a7f1853d0027af3b95a699aa5761a293863	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, @DISEASE$, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+33f84bf4df3ff456e5ab23e5d7603e6f3c5d2b52	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+818387cbda84dabdddd9f3ef391ed679af10cc3d	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+2c9ab3bd701f7215822698ffcaffe5a88c0f20ec	Pallister-Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, @DISEASE$, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+fabf6e632e4c4ffbf85203f75f6db1b5c3a5f39f	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal @PHENOTYPICFEATURE$, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+ab47a1e48b24f299d561a44363032e531a450ad3	@DISEASE$ (OI) is anecdotally associated with macrocephaly, @PHENOTYPICFEATURE$, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	has_symptom
+6318ae3a5b8db565fa3dbaec279faa5cb85f2ed8	Osteogenesis imperfecta (OI) is anecdotally associated with @PHENOTYPICFEATURE$, @DISEASE$, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+b0e23d2cf7a1c4348afb16787d527768a8ec072d	@DISEASE$ (OI) is anecdotally associated with @PHENOTYPICFEATURE$, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+a5b82d3839d872aa733644c1425c77c3b26fbe1f	@DISEASE$ (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and @PHENOTYPICFEATURE$, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+df8f2e2d1ad4d518947d4c19c880e05875edf9fb	Osteogenesis imperfecta (OI) is anecdotally associated with macrocephaly, @DISEASE$, basilar invagination, and @PHENOTYPICFEATURE$, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+021faa912a754483deb754925c78a87ebe4ca87b	At least three research groups have reported that @PHENOTYPICFEATURE$ is diagnosed in up to 20% of children with @DISEASE$ (VCFS).	has_symptom
+f500aac4494206e99ef1393708b1a206df501ef2	This paper highlights recent investigations of the NLD model with respect to @DISEASE$, Klinefelter syndrome, high functioning @PHENOTYPICFEATURE$, neuro-fibromatosis type I, and metachromatic leukodystrophy, and also provides a brief discussion of recent conceptualizations of the NLD model in the broader context of disorders of social and emotional functioning, and of other novel avenues of NLD research.	has_symptom
+c48e24050d0b0846ff6ece1f96bd07af591b1835	On cognitive variability in @DISEASE$: profound mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+a7b0614dd54589dac1186040e1413bad9ee63a65	Comparing phenotypes in patients with idiopathic autism to patients with @DISEASE$ (22q11 DS) with and without @PHENOTYPICFEATURE$.	has_symptom
+eb6d090f6c0df32f53c7720d5ccf3f8482068b8b	Serum samples were obtained from 1000 patients (age range: 15-65 years; 652 of them were women) presented with @DISEASE$-like symptoms, including @PHENOTYPICFEATURE$, headache, night sweats, appetite loss, weakness, arthralgia and myalgia.	has_symptom
+3c3442cbd40bdeffacb67c5681bc5ef3b115dd61	Serum samples were obtained from 1000 patients (age range: 15-65 years; 652 of them were women) presented with @DISEASE$-like symptoms, including fever, headache, night sweats, appetite loss, weakness, @PHENOTYPICFEATURE$ and myalgia.	false
+842761f6e6fe6ddc197cd364667f50c3b22c4a8f	Serum samples were obtained from 1000 patients (age range: 15-65 years; 652 of them were women) presented with brucellosis-like symptoms, including @DISEASE$, headache, night sweats, appetite loss, weakness, @PHENOTYPICFEATURE$ and myalgia.	false
+1438828a1d854bbbf49cee48828f3528003498cb	@DISEASE$ is a zoonotic disease, with @PHENOTYPICFEATURE$, fatigue, sweating, arthritis, hepatosplenomegaly, lymphadenopathy, and cytopenia being the most common symptoms and findings.	has_symptom
+ed238597dce4e0718e2f49bb3e629db3b067ad69	@DISEASE$ is still an endemic disease in Lebanon and should be considered notably in patients presenting with prolonged @PHENOTYPICFEATURE$, and articular and neurological manifestations.	has_symptom
+a5766aed8c6e3943c24a70e72cc77830d07c5997	@DISEASE$ causes abortion in domestic animals and Malta @PHENOTYPICFEATURE$ in humans.	has_symptom
+7b5eddbb27aae9ac00d0ff31419dbb1d6bee3be6	A 45-year-old man who presented with @PHENOTYPICFEATURE$, jaundice and abdominal pain was diagnosed with @DISEASE$.	has_symptom
+6ae3974d7c3b2796e1fe70e597adca0e50524add	A 45-year-old man who presented with @DISEASE$, jaundice and @PHENOTYPICFEATURE$ was diagnosed with hereditary spherocytosis.	false
+ce419f36c68905af1323eb0282f619870fefa5e1	A 45-year-old man who presented with anemia, jaundice and @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$.	false
+5f8fa1b77e64826c49ccde46b44814046afd24a8	@PHENOTYPICFEATURE$ was more common in those with G6PD deficiency, blood group incompatibility, @DISEASE$, and gastrointestinal obstruction.	has_symptom
+0be9d78b48f775ab2c4d8fcef9de8484492082fd	We report on a 64-year-old man with @DISEASE$, who presented with @PHENOTYPICFEATURE$, jaundice, intrathoracic EMH, and massive hemothorax.	has_symptom
+f317188c1917b4d2b84dda5729cca9faeca1f1e2	The 32-years old female presented with moderate @PHENOTYPICFEATURE$, jaundice and hepatosplenomegaly from her childhood and was misdiagnosed as @DISEASE$ for a long time.	has_symptom
+597d38908c1025c8927a65bd4d91aefb629a3c0e	Patients with the dominant form of @DISEASE$ generally had mild @PHENOTYPICFEATURE$, with spectrin at 63 to 81 percent of normal levels.	has_symptom
+e5640bd595d08087f051c785c63a6921f80e2fb4	Reported here is a 19-year-old female patient with @DISEASE$ who was seen for altered mental status and @PHENOTYPICFEATURE$.	has_symptom
+f0ba0359db61ff17bfc20b9c6ae80536d63e0f50	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to blindness, @PHENOTYPICFEATURE$, and brain death by the age of three.	has_symptom
+491dc14d63e4baaeb5e11f5a5b0d254e1a32ee17	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @PHENOTYPICFEATURE$, seizures, and brain death by the age of three.	false
+65d8798e12f59575d3459b37742f6689fc55b8b3	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @PHENOTYPICFEATURE$, @DISEASE$, and brain death by the age of three.	false
+90b6583dcfb553c98330c28d30ebc2beb5f9f76f	Mutation in the X-linked RAB40AL gene (@DISEASE$) with mental retardation, @PHENOTYPICFEATURE$, and anomalies of the craniofacies and genitourinary tract: a second case report.	has_symptom
+8fbb2a267f5fb6f7658bcc49d5d0bda6e7b7f6bc	Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with @PHENOTYPICFEATURE$, @DISEASE$, and anomalies of the craniofacies and genitourinary tract: a second case report.	false
+90519683c347dadbf12ba3433342c16f389a5c03	Mutation in the X-linked RAB40AL gene (@DISEASE$) with @PHENOTYPICFEATURE$, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.	false
+ef9ef2e1de31eeeb8644acfbcb6af4d446e18c3b	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (@DISEASE$), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic @PHENOTYPICFEATURE$, and spinocerebellar ataxia.	has_symptom
+3a57b63ba42f1d058e94bed60b2c40125eee1126	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, @DISEASE$ (ALS), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic @PHENOTYPICFEATURE$, and spinocerebellar ataxia.	has_symptom
+5c78d3d61f383078dd508866d3d250f0c444d184	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, @DISEASE$ (ALS), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+c237f81f7cbea986e873e408168a445c3b94c8b2	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic @DISEASE$, and spinocerebellar @PHENOTYPICFEATURE$.	false
+a2478ed6547f87283163a118c4ba5bde66166cba	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, glioblastoma, @DISEASE$, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+73dff5e89aa2818983d6b1bcfd860171fb98d137	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, @DISEASE$, Huntington's disease, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+6f7bc2efc3f553af2aa34bf07149113c0325d861	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (@DISEASE$), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+6605307c09e0fc6a7564a0aea4aa10d548947623	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), @DISEASE$, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+17a51df3ba9a5109f73d699aced0b4c64828347e	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of @DISEASE$, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, glioblastoma, Huntington's disease, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+0b29060419bc4c5a51328eecfda610b6c3c4fa44	Neurodegenerative disorders for instance Huntington's disease, Parkinson's disease, @DISEASE$, Epilepsy, Schizophrenia, Multiple sclerosis, Neuropathic @PHENOTYPICFEATURE$ and Alzheimer's disease involves mitochondrial dysfunction and is regarded as the core of their pathological processes.	has_symptom
+250a72a50a24f4fd720ee1b0d289cc0da8bb661a	Phase I clinical trials were reported for the treatment of @DISEASE$ (ALS) and chronic cancer @PHENOTYPICFEATURE$.	has_symptom
+9e29d6c884854aa67cd9211a4158cd4f9fb54e7f	Phase I clinical trials were reported for the treatment of amyotrophic lateral sclerosis (@DISEASE$) and chronic cancer @PHENOTYPICFEATURE$.	has_symptom
+efa1b8166d38556f7205d9cc94117b8a2c3a3ffb	Elevated levels of glutamate released from neurons are associated with the pathology of stroke, traumatic nervous system injury, @DISEASE$, inflammatory and neuropathic @PHENOTYPICFEATURE$, diabetic neuropathy and the schizophrenia-like symptoms elicited by phencyclidine.	has_symptom
+e27ff99867a24c74ae7ce9636a89b32797ac61e2	Metalloporphyrins are efficacious in models of @DISEASE$, Alzheimer's disease, epilepsy, neuropathic @PHENOTYPICFEATURE$, opioid tolerance, Parkinson's disease, spinal cord injury, and stroke and have proved to be useful tools in defining roles of superoxide, nitric oxide, and peroxynitrite in disease progression.	has_symptom
+f6a07a55c3044a1e02e5478cd0d294cbcbc6871f	Muscle spasticity causes @PHENOTYPICFEATURE$, disability, and difficulties in the rehabilitation of patients with cerebrovascular lesions, head, brain or spine trauma, coma, or neurologic diseases such as multiple sclerosis, @DISEASE$, or cerebral palsy.	has_symptom
+9d01aeef186a998d35dba3e825ff009413cb46e9	@PHENOTYPICFEATURE$ causes @DISEASE$, disability, and difficulties in the rehabilitation of patients with cerebrovascular lesions, head, brain or spine trauma, coma, or neurologic diseases such as multiple sclerosis, amyotrophic lateral sclerosis, or cerebral palsy.	false
+71a5ca7f769e7c65e6b4b4a64668c887cd72c66a	@PHENOTYPICFEATURE$ causes pain, disability, and difficulties in the rehabilitation of patients with cerebrovascular lesions, head, brain or spine trauma, coma, or neurologic diseases such as @DISEASE$, amyotrophic lateral sclerosis, or cerebral palsy.	false
+d28907dc0fd00225b9e4543bbeeee68d2377bfde	@PHENOTYPICFEATURE$ causes pain, disability, and difficulties in the rehabilitation of patients with cerebrovascular lesions, head, brain or spine trauma, coma, or @DISEASE$ such as multiple sclerosis, amyotrophic lateral sclerosis, or cerebral palsy.	false
+481a2f35c30678d8c598b5a79766958e63c79b42	@PHENOTYPICFEATURE$ causes pain, disability, and difficulties in the rehabilitation of patients with cerebrovascular lesions, head, brain or spine @DISEASE$, coma, or neurologic diseases such as multiple sclerosis, amyotrophic lateral sclerosis, or cerebral palsy.	false
+f940fcbe6a2a711ea897375dbe3a2a9672fd5f10	@PHENOTYPICFEATURE$ causes pain, disability, and difficulties in the rehabilitation of patients with cerebrovascular lesions, head, brain or spine trauma, coma, or neurologic diseases such as multiple sclerosis, @DISEASE$, or cerebral palsy.	false
+ffd2e8175c1bd38a08aad4c7c50fe803b4fad001	Striatal injury in patients with @DISEASE$ (GA1) results in a complex, predominantly @PHENOTYPICFEATURE$ disorder.	has_symptom
+4dbd61a2eac4bc82e159d143fe2da26926f7d031	Computed tomography (CT) was performed on 123 (77%) patients, namely all children with the exception of those with @PHENOTYPICFEATURE$, typical absence seizures, and @DISEASE$.	has_symptom
+680c66bcb4a4acee1b01c4a58c76fe76411a627c	Computed tomography (CT) was performed on 123 (77%) patients, namely all children with the exception of those with @DISEASE$, @PHENOTYPICFEATURE$, and benign Rolandic epilepsy.	false
+e30acdac3e8d1b38a060ba9d3d9bcc0a7cb0de68	Computed tomography (CT) was performed on 123 (77%) patients, namely all children with the exception of those with febrile seizures, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6056bc6ed3cf2f81914ca11c776c04c3418f2327	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/@PHENOTYPICFEATURE$), this ranged between 40% and 23%, respectively.	has_symptom
+ce421ade4b240dc8a9a160e282d807aad6751fb1	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional @PHENOTYPICFEATURE$ (neonatal/febrile seizures), this ranged between 40% and 23%, respectively.	false
+a4a8711ee4e1b90fcd1537b54009fc6a4ea6793f	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile @PHENOTYPICFEATURE$ epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/febrile seizures), this ranged between 40% and 23%, respectively.	false
+aceb1dcf68fe5974f9afe4f5d577bff8d8829120	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile myoclonic epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - Rolandic epilepsy, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional @PHENOTYPICFEATURE$ (neonatal/@DISEASE$), this ranged between 40% and 23%, respectively.	false
+647b8c557cc33ef7fca3b43c2740a43442b1704f	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile @PHENOTYPICFEATURE$ epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - Rolandic epilepsy, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/@DISEASE$), this ranged between 40% and 23%, respectively.	false
+082a916151acd0efeebd6847ec4f29ed2454e28c	As a guideline, I would recommend that all patients, with the exception of those with absence seizures, @DISEASE$, @PHENOTYPICFEATURE$, and typical absence seizures have a CT scan with and without contrast enhancement.	has_symptom
+f52c3d94f851e111470ff56dc223550e4e521010	As a guideline, I would recommend that all patients, with the exception of those with absence seizures, @DISEASE$, febrile seizures, and @PHENOTYPICFEATURE$ have a CT scan with and without contrast enhancement.	false
+c91a2bbaed827e7b6788c1015765136c76a0dc83	As a guideline, I would recommend that all patients, with the exception of those with @PHENOTYPICFEATURE$, benign rolandic epilepsy, @DISEASE$, and typical absence seizures have a CT scan with and without contrast enhancement.	false
+2e4e44f42c191206314b529d0d83221f1f0aff9d	As a guideline, I would recommend that all patients, with the exception of those with absence seizures, benign rolandic epilepsy, @DISEASE$, and @PHENOTYPICFEATURE$ have a CT scan with and without contrast enhancement.	false
+cdd2aa1465229037c0052eaa6e6da0003ee7d30e	As a guideline, I would recommend that all patients, with the exception of those with @PHENOTYPICFEATURE$, @DISEASE$, febrile seizures, and typical absence seizures have a CT scan with and without contrast enhancement.	false
+ab75349a3cf0a660c5def7975a3962bf5e81ff5b	In addition to Leigh syndrome all patients had @PHENOTYPICFEATURE$, a clinical sign that is not usually associated with @DISEASE$.	has_symptom
+17ac7850c554bb5345cb34bb1e77926c559a4e08	In addition to @DISEASE$ all patients had @PHENOTYPICFEATURE$, a clinical sign that is not usually associated with Leigh syndrome.	has_symptom
+e90fe00d0f6f6606d5de310978cdb6dbdc96cdfd	Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with @DISEASE$ showing these facial dysmorphism and @PHENOTYPICFEATURE$, sequence analysis of the SURF1 gene may be useful.	has_symptom
+1ca917f085e29449b236eded41dcb5f2d859fb85	Since both patients displayed characteristic @PHENOTYPICFEATURE$ and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with @DISEASE$ showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful.	false
+0a0b102c8f74d35479837faf8de8637d94b8d359	Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these @PHENOTYPICFEATURE$ and @DISEASE$, sequence analysis of the SURF1 gene may be useful.	false
+99df9498872b717c070c8562857235cd554b3444	Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with @DISEASE$ showing these @PHENOTYPICFEATURE$ and hypertrichosis, sequence analysis of the SURF1 gene may be useful.	false
+f0444b5a5ba4d9773b27952e9e70f6101dc283c4	Since both patients displayed characteristic @PHENOTYPICFEATURE$ and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these facial dysmorphism and @DISEASE$, sequence analysis of the SURF1 gene may be useful.	false
+2d653f41f184fb00d31897a0f9af3ae3d6ef5ee7	Congenital @DISEASE$ (CCMC) is a clinically and genetically heterogeneous condition characterized by @PHENOTYPICFEATURE$ and microcornea.	has_symptom
+082aa2fa27ff31731d68368cad0ae94943a7f3ac	One novel mutation affecting a known @PHENOTYPICFEATURE$ gene was identified among four unrelated individuals with presumed autosomal dominant congenital @DISEASE$.	has_symptom
+f2bd188058a99f5d40fdd132cf9e2e205b52d21f	We present a new and unique association of @DISEASE$ with @PHENOTYPICFEATURE$ and type 1 diabetes mellitus.	has_symptom
+a8fb15360f03498b93b1f7bb660d967155008d81	@DISEASE$, @PHENOTYPICFEATURE$, and Insulin-Dependent Diabetes Mellitus in a Child: A Unique Patient.	has_symptom
+7f71e9f05dc10db926e97f84c7514fc351fd014b	To report five symptomatic patients, four with unequivocal Paget's disease and large areas of @PHENOTYPICFEATURE$ and one patient with presumed osteolytic @DISEASE$, evaluated by MR imaging to confirm or exclude a sarcoma.	has_symptom
+ccf3f20b496b93454b4fc770f843375c52bb6081	The most common causes of hospitalization in both AR-HIES and @DISEASE$ patients were pneumonia, @PHENOTYPICFEATURE$ and sepsis.	has_symptom
+b65a3a2d7cfa1c5f220f0cf8251f5e1df92ae154	The major clinical complications of @DISEASE$ patients were pneumonia, @PHENOTYPICFEATURE$ and eczema.	has_symptom
+75c48dc22f7506b6210cbffbe499c98601190eeb	@DISEASE$ (HIGE) is considered as a phagocytic or a newly classified complex and heterogeneous primary immunodeficiency disease with symptoms such as increased levels of immunoglobulin E, eczema, and, recurrent lung and @PHENOTYPICFEATURE$.	has_symptom
+33e29d982a3562c8102c282e43d1f55e211a9497	@DISEASE$ (Job's syndrome) is a rare genetic disorder that is characterized by recurrent staphylococcal respiratory and @PHENOTYPICFEATURE$ in addition to elevated serum IgE levels.	has_symptom
+9a2c3eded5ea41a5e3292f0e3a1ae33f385c2130	Hyperimmunoglobulin E syndrome (@DISEASE$) is a rare genetic disorder that is characterized by recurrent staphylococcal respiratory and @PHENOTYPICFEATURE$ in addition to elevated serum IgE levels.	has_symptom
+bae4334fade7e85cc8c37b6650ce184b03d4940d	It often characterized by facial features, repeated @PHENOTYPICFEATURE$, eczema and pulmonary infection, including @DISEASE$ (AD-HIES) and autosomal recessive HIES (AR-HIES).	has_symptom
+b206593bbd89a3367b668144d08b3db3c7c278be	It often characterized by facial features, repeated @PHENOTYPICFEATURE$, eczema and pulmonary infection, including autosomal dominant HIES (@DISEASE$) and autosomal recessive HIES (AR-HIES).	has_symptom
+591413b75279fc3a9d280058c9fba644471db3cf	@DISEASE$ (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and @PHENOTYPICFEATURE$.	has_symptom
+f9632a800523d90e281365d527ef41bba97f6f51	@DISEASE$ (RCDP) is clinically characterized by symmetrical shortening of the proximal @PHENOTYPICFEATURE$ of joints, a characteristic dysmorphic face, and cataracts.	false
+d2f8c252450c2f508e8ccf61556b3a07a2f6ce4f	Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal @PHENOTYPICFEATURE$ of joints, a characteristic dysmorphic @DISEASE$, and cataracts.	false
+34f6aa3a0cf1134c501481da728e263d92674454	Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal @PHENOTYPICFEATURE$ of joints, a characteristic dysmorphic face, and @DISEASE$.	false
+e042953dcaee88b2a4d9cd9b02a3a39dd24d2a00	@DISEASE$ is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, @PHENOTYPICFEATURE$, a characteristic facial appearance, failure to thrive, and psychomotor retardation.	has_symptom
+d2d02cd018cff8d5217490fcd553e9dde000b3a9	Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, @DISEASE$, a characteristic facial appearance, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+5ea36437a6d89f454f894317fc5b251bda610031	@DISEASE$ is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+724f4fb8a03af9a8ff11de352810a43831654597	Rhizomelic chondrodysplasia punctata is a rare @DISEASE$ of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+dc920f74996192a0f28351a0089cbbcdaa0f620a	Prenatal ultrasonographic diagnosis of @DISEASE$ by detection of rhizomelic shortening and bilateral @PHENOTYPICFEATURE$.	has_symptom
+6c390d68a845bfdf3f2c8b81f7ef3884589ac068	@DISEASE$ (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, @PHENOTYPICFEATURE$, periarticular calcifications, multiple joint contractures, and psychomotor retardation.	has_symptom
+dc8faf0aef5981b30e2bd91149adf8730a9ff8f2	@DISEASE$ (RCDP) is a developmental disorder characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal ossification, impaired motor development, and intellectual disability.	has_symptom
+5092d92107b5d6fa979b1d6e1eb4ee86fc87590f	@DISEASE$ (RCDP) is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired motor development, and @PHENOTYPICFEATURE$.	false
+47055419baa54dfc11ee68866aeaf22844058d02	Rhizomelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, @DISEASE$, abnormal ossification, impaired motor development, and @PHENOTYPICFEATURE$.	false
+8df6d1d34dfe919ea1656d8075f8ec6d1dc785a7	This is the only report of prenatal ultrasonographic diagnosis of bilateral @PHENOTYPICFEATURE$ in a fetus with @DISEASE$ (type 1).	has_symptom
+0620192133a22171c07826547f890d2385e8a253	Classic @DISEASE$ is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, @PHENOTYPICFEATURE$, developmental delay, and early lethality.	has_symptom
+13a40b588f26b937265571f33475a88947f524ce	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, @PHENOTYPICFEATURE$, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	has_symptom
+5230c86f3afe7a2adb5f0005ae4164934b13c7f0	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, @DISEASE$, skeletal dysplasia causing disproportionate somatic growth failure, @PHENOTYPICFEATURE$, and severe psychomotor defects.	false
+405dde85adfc7140f6e7d5180b666dcd2b6959b0	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, @DISEASE$, skeletal dysplasia causing disproportionate somatic @PHENOTYPICFEATURE$, microcephaly, and severe psychomotor defects.	false
+3ebdb1408cb9cbbbc4c21c46f53849a199d4a081	The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, @DISEASE$, @PHENOTYPICFEATURE$ causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+259e3ae9552c0da7489f6ae59d97b99a6645c2e1	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, @PHENOTYPICFEATURE$, and severe psychomotor defects.	false
+1ac4ce4f9c6dd3558478fe20b7ece08404e3f2c0	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic @PHENOTYPICFEATURE$, microcephaly, and severe psychomotor defects.	false
+e77a3305812082c2c58fb8d7f73cc7df98a31b59	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, @PHENOTYPICFEATURE$ causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+802dc125f6f4d4ae63f562cbb16f9190cc7199b7	We report on a 23-year-old man with craniofacial findings of the @DISEASE$ spectrum disorder (@PHENOTYPICFEATURE$, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea.	has_symptom
+6cf72488075849b316a5ab973572bb38d0217428	We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (@DISEASE$, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, @PHENOTYPICFEATURE$, and severe sleep apnea.	false
+7723d47cd302be8166d2b63962aa3300ad1a1335	We report on a 23-year-old man with craniofacial findings of the @DISEASE$ spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, @PHENOTYPICFEATURE$, and severe sleep apnea.	false
+efef1f2cb0f613d97488421e26a6657058c86c0a	At the milder end of the @DISEASE$ spectrum @PHENOTYPICFEATURE$, hypotelorism, and single central maxillary incisor may be recognised.	has_symptom
+4f04cf7238994e9fe999adaf2392c7bffa9fc2fb	Twelve patients, all with very severe @DISEASE$ and @PHENOTYPICFEATURE$, had reduced sulcal depth, diffusely in eight and limited to the anteromedial cortex in four with lobar HPE.	has_symptom
+8dbc64b945cdda9378fa4d65629b0921e791a682	Among them, lupus erythematosus, scleroderma, polymyositis and @DISEASE$, Sj?gren syndrome, Wegener's granulomatosis, sarcoidosis, Vogt-Koyanagi-Harada's syndrome, and amyloidosis are the diseases encountered most frequently that can manifest cutaneous @PHENOTYPICFEATURE$.	has_symptom
+02d716696007ab52754a8e3af6c07a30fb8f1bd7	Lysosomal enzymes in @PHENOTYPICFEATURE$: discovery of two new cases of late onset @DISEASE$ (adult Sandhoff disease) in French Canadians.	has_symptom
+8438770466853911709fd6c2b8393d445f230ab6	The clinical features of juvenile @DISEASE$ include @PHENOTYPICFEATURE$, dysarthria and cerebellar atrophy.	has_symptom
+8f2d157bcacf9fb2b364cfcf7780550cceba2a28	Three siblings in their sixth and seventh decade with @DISEASE$ (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and @PHENOTYPICFEATURE$.	has_symptom
+0ad492e5b2e10e7b34871392936c93b3fc7d6b9d	These receptor-mediated activities can contribute to disease pathogenesis and have therapeutic relevance to human CNS disorders as demonstrated for multiple sclerosis (MS) and possibly others that include congenital hydrocephalus, ischemic stroke, neurotrauma, neuropsychiatric disorders, developmental disorders, @PHENOTYPICFEATURE$, hearing loss, and @DISEASE$, based upon the experimental literature.	has_symptom
+17c73705b462f75d1132b815394eaca4b5637a4f	@DISEASE$ is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and @PHENOTYPICFEATURE$ from 6 months of age.	has_symptom
+74230d39362f89833216921c1d948be7e1b9acf9	We describe a 6-year-old male with coarse facial features, developmental delay, refractory @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, who was later found to have @DISEASE$.	has_symptom
+1aa02d5af4c89234d811068af547bd79afaff7d0	@DISEASE$ (gangliosidosis type 0) is a lysosomal storage disorder with a deficiency of hexosaminidases A and B. After an initially normal development the clinical course of affected children is severe and rapidly progressive leading to spastic tetraparesis, @PHENOTYPICFEATURE$ and early death.	has_symptom
+f9fd9eec6358a40004bcc9e0bee78ad9c0d0f4fb	@PHENOTYPICFEATURE$ in @DISEASE$ including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage.	has_symptom
+d022cc1cc74dc3fb3a2e6599e29225d6ce9d84cf	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and @PHENOTYPICFEATURE$, hypogonadism, short stature, and characteristic dysmorphology.	has_symptom
+4af1bf34be3f46fb07f2a91efa94e24d84a8a951	People with Prader-Willi syndrome exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset @PHENOTYPICFEATURE$, mental deficiency and @DISEASE$, hypogonadism, short stature, and characteristic dysmorphology.	false
+ea923dc75aff6b4ca0c2a9b88dd61ea41a380330	People with Prader-Willi syndrome exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, @PHENOTYPICFEATURE$ and @DISEASE$, hypogonadism, short stature, and characteristic dysmorphology.	false
+71d21e3d9da78b2ec1ce6372e80c96c59eec3307	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset @PHENOTYPICFEATURE$, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+7568721840323d9c3908acfb8edfb311c3cd554f	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, @PHENOTYPICFEATURE$ and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+af909f6326f3f5a5347cd99efdc9f3e95683cfea	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset @PHENOTYPICFEATURE$, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+6b3135ce6cd52d2f06d7664d569702ef4acd8a86	People with @DISEASE$ exhibit infantile hypotonia and @PHENOTYPICFEATURE$, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+0ce456e89ae6a2326d508f03272efe41d4f53c45	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, @PHENOTYPICFEATURE$, and characteristic dysmorphology.	false
+e27f8b7be69567d7772f59b07f158c20a5c018de	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, @PHENOTYPICFEATURE$ and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+528399cea7ee2e5db479d6a551223d26e8cf159f	People with Prader-Willi syndrome exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and @DISEASE$, hypogonadism, @PHENOTYPICFEATURE$, and characteristic dysmorphology.	false
+5dbd4f648e75cf6f68292098f918b0bee8e7e235	People with Prader-Willi syndrome exhibit infantile hypotonia and @PHENOTYPICFEATURE$, genital hypoplasia, childhood-onset obesity, mental deficiency and @DISEASE$, hypogonadism, short stature, and characteristic dysmorphology.	false
+df1e7a4989d9182e5bbaaa813adbce2525580c66	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, @PHENOTYPICFEATURE$, and characteristic dysmorphology.	false
+c38fafe68dc2eec0a7d76aa5ccd1dbcb9dff6694	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and @PHENOTYPICFEATURE$, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+c6045c27523cbc9e2544d3cd435f68802e51a8ea	@DISEASE$ (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, @PHENOTYPICFEATURE$, dysmorphic features, and excessive appetite with progressive obesity.	has_symptom
+4923e616bcefe2b0d4f1d478775710d6144672ea	@DISEASE$ (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive @PHENOTYPICFEATURE$.	false
+ec888e0cbd6f1173cda727e06054d521bce9e728	@DISEASE$ (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, @PHENOTYPICFEATURE$, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity.	false
+54cfe5d060adafa12dcd23d366c8c388d2b9d702	Prader-Willi syndrome (PWS) is a @DISEASE$ characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive @PHENOTYPICFEATURE$.	false
+c7c846574e71393f7859207be0977f3bdcd99fe4	Prader-Willi syndrome (PWS) is a genetic disorder characterized by @PHENOTYPICFEATURE$, low lean body mass, muscular hypotonia, mental retardation, @DISEASE$, dysmorphic features, and excessive appetite with progressive obesity.	false
+3d86f28711d6dd1ad86b272ce90180c92041a82a	@DISEASE$ (PWS) is a genetic disorder characterized by short stature, low lean body mass, @PHENOTYPICFEATURE$, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity.	false
+5ea5b70f496be9604e94f99fda50f71dab619cbd	Prader-Willi syndrome (PWS) is a @DISEASE$ characterized by short stature, low lean body mass, @PHENOTYPICFEATURE$, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity.	false
+c4ff921d4a0d1f2e6a894c70b536eef95203a8ee	@DISEASE$ (PWS) is a genetic disorder characterized by @PHENOTYPICFEATURE$, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity.	false
+7b7ff61383171fa96a03abe19fc5e742d69440f0	Prader-Willi syndrome (PWS) is a @DISEASE$ characterized by short stature, low lean body mass, muscular hypotonia, @PHENOTYPICFEATURE$, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity.	false
+b2938d9b583145e263691b90c430047dac34ac6b	Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, dysmorphic features, and excessive appetite with progressive obesity.	false
+a9ca240ae1e45ab4ac30800e9d217bcdaeb8bd8b	Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, dysmorphic features, and excessive appetite with progressive obesity.	false
+64e526361015f5c87d7d09f7e4e290c5935c641b	Prader-Willi syndrome (PWS) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity.	false
+3526088f5af7cc903a6e6013c6a12ff03fb4ab6b	Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, @DISEASE$, dysmorphic features, and excessive appetite with progressive @PHENOTYPICFEATURE$.	false
+a61aa55d3e9312a4294e43a65b2a5f95eb134b02	Of these 20 patients, 17 had @DISEASE$, one had arthritis and carditis, one had myalgia, and one had erythema and @PHENOTYPICFEATURE$.	has_symptom
+e1e371e5792f40ec7c5f8cfac7aa5028c013a5a4	Of these 20 patients, 17 had neuroborreliosis, one had @DISEASE$ and carditis, one had myalgia, and one had @PHENOTYPICFEATURE$ and arthralgia.	false
+2a5b041251391fc78bfe15202f187736fab3862d	Of these 20 patients, 17 had @DISEASE$, one had arthritis and carditis, one had myalgia, and one had @PHENOTYPICFEATURE$ and arthralgia.	false
+96e8912b54f03928f3a755e6888532db4ccb5f26	Of these 20 patients, 17 had neuroborreliosis, one had arthritis and carditis, one had myalgia, and one had @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1006c828eb731a2963baecf8dd626472e14cd411	Our findings suggest that @PHENOTYPICFEATURE$ is a latter sign of the pathology and that nervous system could be instead a primary target of the @DISEASE$ agent.	has_symptom
+fb146e6ef52ea961df9e33418dd578c0f3bb12a5	One older patient diagnosed with @DISEASE$ showed limb-girdle @PHENOTYPICFEATURE$ and weakness at the age of 50, but did not have any cardiac symptoms.	has_symptom
+45e9d8bcd7f5cbb0e0629ffa85e6bc0076b75206	Irisin treatment increased cortical bone mineral density (@DISEASE$) in young healthy mice and restored bone and muscle mass loss in a mouse model of disuse-induced osteoporosis and @PHENOTYPICFEATURE$.	has_symptom
+a3436c41f09792ba7c0935f789642a5eb919eadd	Irisin treatment increased cortical bone mineral density (@DISEASE$) in young @PHENOTYPICFEATURE$ mice and restored bone and muscle mass loss in a mouse model of disuse-induced osteoporosis and muscular atrophy.	false
+cdef7da82d2f14900ffe4e7bbcd343ada0131084	Irisin treatment increased cortical bone mineral density (BMD) in young @PHENOTYPICFEATURE$ mice and restored bone and muscle mass loss in a mouse model of disuse-induced @DISEASE$ and muscular atrophy.	false
+d2c5729ee8b028d05aa1214dc980a7ea253c44ce	Irisin treatment increased cortical bone mineral density (BMD) in young @PHENOTYPICFEATURE$ mice and restored bone and muscle mass loss in a mouse model of disuse-induced osteoporosis and @DISEASE$.	false
+bc7c71084ddaaae1e7f7d39b835db2c3a578c327	We found that individuals may be at risk of loss of hip @DISEASE$ from @PHENOTYPICFEATURE$, asymmetrical gait, and poor affected-side ankle dorsiflexor strength.	has_symptom
+b6f54cdb867bcae4d8bb3f4ffd2ac6712e381cdc	@DISEASE$ (FCAS) is an autosomal dominant inflammatory disease with a high degree of penetrance that is characterized by episodes of rash, arthralgia, @PHENOTYPICFEATURE$, conjunctivitis, and leukocytosis after generalized exposure to cold.	has_symptom
+947352344941be18f626cfe04de1cf9c4a648e0c	Familial cold autoinflammatory syndrome (@DISEASE$) is an autosomal dominant inflammatory disease with a high degree of penetrance that is characterized by episodes of rash, arthralgia, @PHENOTYPICFEATURE$, conjunctivitis, and leukocytosis after generalized exposure to cold.	has_symptom
+efb4282cce72c7b6e0a57cfed4d8b548e6f85b10	Familial cold urticaria (@DISEASE$) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with @PHENOTYPICFEATURE$, arthralgias, conjunctivitis, and leukocytosis.	has_symptom
+3e4c03ad26358f40ce523a209c0bb15dc4410bec	These syndromes, @DISEASE$, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease, are characterized by urticaria-like rash, @PHENOTYPICFEATURE$, central nervous system inflammation, an arthropathy and a risk of the development of amyloidosis in a respectively escalating degree of severity between the various syndromes.	has_symptom
+42a0dd84cbd8ab7826f3da2f121f2d05cfc93439	@DISEASE$ (FCAS), formerly known as familial cold urticaria, is a rare condition characterized by @PHENOTYPICFEATURE$, rash, and arthralgias elicited by exposure to cold.	has_symptom
+02bb7c0d51932263e22f55e2198228e964f9e23e	Familial cold autoinflammatory syndrome (@DISEASE$), formerly known as familial cold urticaria, is a rare condition characterized by @PHENOTYPICFEATURE$, rash, and arthralgias elicited by exposure to cold.	has_symptom
+c205eff685d1bd045ead74fa51b362af3b35c4fa	@DISEASE$ (FCAS) is characterized by rash, @PHENOTYPICFEATURE$, and arthralgia in response to cold exposure.	has_symptom
+8d3b9b9cce8f81554a2b4635f89235a772c7f78c	Familial cold autoinflammatory syndrome (@DISEASE$) is characterized by rash, @PHENOTYPICFEATURE$, and arthralgia in response to cold exposure.	has_symptom
+e678a7d42503acdfb520e8b9e1714f4b1b83a279	Familial cold urticaria (@DISEASE$) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, @PHENOTYPICFEATURE$, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44.	has_symptom
+9ca7d027b787f752df3df88fd40f77be7cd294dd	After cold challenge, untreated patients with @DISEASE$ developed rash, @PHENOTYPICFEATURE$, and arthralgias within 1-4 h.	has_symptom
+56043fa61d4a409e618426db4c962b5e0d2061a5	TBS is a simple and useful test in differentiating untreated achalasia, EGJOO, and non-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+96953ada97f3da64f41393d725c0140f943f04ed	Our aim was to determine the usefulness of TBS in differentiating patients with @DISEASE$ (type 1-3), esophagogastric junction outflow obstruction (EGJOO), and non-achalasia @PHENOTYPICFEATURE$.	has_symptom
+9745cec74b66747d9e402673080b9c1654c7cb7a	Our aim was to determine the usefulness of TBS in differentiating patients with achalasia (type 1-3), esophagogastric junction outflow obstruction (EGJOO), and non-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+929ae512ccf6d7ab7c302ffd1dd15f30a0bc53d8	@DISEASE$ occurred more frequently in patients with mixed @PHENOTYPICFEATURE$ than in those with solid dysphagia (12% vs. 3%, p < 0.01).	has_symptom
+ffb558e5af7f9a0cf56b4c66450e9e20d228113e	Laparoscopic myotomy improves quality of life and @PHENOTYPICFEATURE$ symptoms and may be the treatment of choice in most patients with @DISEASE$.	has_symptom
+35e9f281bbda3a49abe61a309ff9629c000a5262	Esophageal @PHENOTYPICFEATURE$ is caused by a structural narrowing, such as produced by a peptic stricture, neoplasm or a Schatzki's ring or by a primary motility abnormality, such as @DISEASE$ or diffuse esophageal spasm or by motility abnormalities produced by inflammation caused by gastroesophageal reflux, medication-induced esophageal ulceration or infectious esophagitis.	has_symptom
+9ae5f796dfb3881090513a9631c8b5cdf41a63e0	The core NA syndromes include autosomal recessive @DISEASE$ and X-linked McLeod syndrome which have a Huntington's disease-like phenotype consisting of a @PHENOTYPICFEATURE$ disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy.	has_symptom
+4088bbeced2e04f13aa58723f02b14544b0bdeb0	We conclude that the @DISEASE$-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and @PHENOTYPICFEATURE$ pre- and postnatally.	has_symptom
+7f0059651a999a9321bbefd382cedbbac2f8cdaf	Asparagine supplementation may be not effective in controlling the @PHENOTYPICFEATURE$ in @DISEASE$, and it is likely to make them worse.	has_symptom
+a07d72b94660578ab7242dc27b1bcae16f600a41	@DISEASE$ (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable @PHENOTYPICFEATURE$ or hyperekplexia.	has_symptom
+f7ec36bde2c7b06d4f6b83ae31110e8cae37929a	To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and @PHENOTYPICFEATURE$ diagnosed with @DISEASE$ (KCS) Type 2 and the subsequent response to growth hormone (GH) treatment.	has_symptom
+1672bd32f5e48a265bdf3a49cbd46dfd5715ecc2	@DISEASE$ (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, @PHENOTYPICFEATURE$, ophthalmological features, and teeth anomalies.	has_symptom
+54f84332db2903eb7561e4860c374f178f8697d7	@DISEASE$ (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, @PHENOTYPICFEATURE$, and primary hypoparathyroidism with hypocalcemia.	has_symptom
+5b73683d9fc36c7115a1c5416024323ee49cd7b7	In this study we found @DISEASE$ (OPG) in 10%, macrocephaly in 36%, @PHENOTYPICFEATURE$ in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%.	has_symptom
+2e3afd397ec7e0413c4d121c9ce03e797b8b507b	In this study we found optic pathway glioma (OPG) in 10%, @PHENOTYPICFEATURE$ in 36%, @DISEASE$ in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%.	false
+b0a632b96751956f04b6500c55ab99c1ccfbbd7b	In this study we found @DISEASE$ (OPG) in 10%, @PHENOTYPICFEATURE$ in 36%, hydrocephalus in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%.	false
+c105c1d97090e5e6b087eda2f4b5612532e8f066	[Unsuspected bronchial @PHENOTYPICFEATURE$ detected in a somatostatin receptor scintigraphy in a patient with @DISEASE$ type 1 and hypergastrinemia].	has_symptom
+4c8cf56e1d4d6deb150e88a4bba08f781752e046	Mutations in SEPN1 have been associated with three autosomal recessive congenital myopathies, including rigid spine @PHENOTYPICFEATURE$, multiminicore disease and @DISEASE$.	has_symptom
+58bda7d4c8f63d073d85c44d6bea686f8b22368e	Variants in this alternatively spliced region of COL11A1 have been identified to cause an autosomal recessive form of @DISEASE$ characterized by @PHENOTYPICFEATURE$ and eye abnormalities, but without musculoskeletal abnormalities.	has_symptom
+86a7fe35cffa04663ffc0d4c29189196d3657d74	The current study using single case voxel-based morphometry (VBM) of magnetic resonance imaging (MRI) and ?H-MR-spectroscopy (?H-MRS) explores the neural background of unexplained @PHENOTYPICFEATURE$ attacks and electroencephalography (EEG) abnormalities persisting even after liver transplantation in a patient with @DISEASE$ (CTLN2).	has_symptom
+0e881ca1da33249eedaeee1547119262147b9024	We report findings on a child presenting with neonatal @DISEASE$, hypomethioninaemia and severe neurological symptoms, including developmental delay and @PHENOTYPICFEATURE$.	false
+e19652b4d39cc91fb95c813bc556e0a0bcfe1c69	The empiric risk figures in the first-degree relatives of probands with cleft lip +/- @PHENOTYPICFEATURE$, cleft palate, Robin sequence and multiple congenital abnormalities including @DISEASE$ as component defects were also determined.	has_symptom
+13ee34a54ead249150b15129bed8c87c88c52561	The empiric risk figures in the first-degree relatives of probands with cleft lip +/- cleft palate, @PHENOTYPICFEATURE$, Robin sequence and multiple congenital abnormalities including @DISEASE$ as component defects were also determined.	has_symptom
+f8225c8924741f19c31df794eb843eb2a97f8d21	Van der Woude syndrome is the most common form of syndromic @DISEASE$, accounting for 1-2% of all patients with cleft lip and/or @PHENOTYPICFEATURE$.	has_symptom
+37538dc5bd3dfbd33df8b6fd9cb4986724d00e50	@DISEASE$, specifically cleft lip and/or @PHENOTYPICFEATURE$ (CL/P), are among the most common congenital anomalies.	has_symptom
+2b76f493311083fc76aa8f2b7b113650ff1672d2	@DISEASE$ include cleft lip only (CLO), @PHENOTYPICFEATURE$ only (CPO), and cleft lip with palate (CLP).	has_symptom
+0967adc87bdd1fea25d6540bfb1569692e0538cb	@DISEASE$ cases were infants or fetuses born with @PHENOTYPICFEATURE$ (CP) or with cleft lip with or without cleft palate (CLP).	has_symptom
+ddb7014cc3cce4d6b66b2d7de80c8b85255a25fc	@DISEASE$ (cleft lip, @PHENOTYPICFEATURE$) are among the most common of all major birth defects, but very little is known about their causation.	has_symptom
+e21936221c32772492da89648708ef8df012e07f	@DISEASE$ (OFCs)--primarily cleft lip and @PHENOTYPICFEATURE$--are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence.	has_symptom
+ea5e47d6d1e20881fb22bf0aa8a6694944642579	@DISEASE$ were defined as cleft lip with or without cleft palate (CLP, n=1766), and @PHENOTYPICFEATURE$ (CP, n=922) only.	has_symptom
+9d6cc93daf870f546e550a654fefec1b694e8be9	The incidence of @DISEASE$, at the University of Chile Maternity Hospital, in the period 1991-1999 was 17.8 per 10,000 (12.6 for cleft lip and 5.2 for @PHENOTYPICFEATURE$).	has_symptom
+44e9dd0aa9163f5a99a690e80fc6c14b59d7d7de	@DISEASE$ are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of @PHENOTYPICFEATURE$ deformity.	has_symptom
+4b6851af26a5603e785484514fc7589dd4168490	@DISEASE$, Barber-Say syndrome, and ablepharon-macrostomia syndrome share the facial features of ablepharon, @PHENOTYPICFEATURE$, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth.	has_symptom
+234520d90f8ee88f02188da4dc848a427b281a93	Generalized lentigo (@DISEASE$) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, @PHENOTYPICFEATURE$ or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	has_symptom
+633971b2698efa6b7af9596b96b828a9dbd724ba	Generalized lentigo (@DISEASE$) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), @PHENOTYPICFEATURE$, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+0f057905de2caea07b73fc5186ce8c0c818b4e4a	Generalized lentigo (@DISEASE$) is an autosomal dominant trait characterized by lentigo, @PHENOTYPICFEATURE$, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+2112eca696169b98925a091f4885201d65b031ef	Generalized lentigo (leopard syndrome) is an autosomal dominant trait characterized by lentigo, @PHENOTYPICFEATURE$, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, @DISEASE$ or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+11d3f7250811aa82bcdf2465868e1debe1d4b73b	Generalized lentigo (leopard syndrome) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), @PHENOTYPICFEATURE$, mandibular prognathism, @DISEASE$ or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects.	false
+535450817a3c07cbb18537b35ff80603c4383ed9	Several of the additional symptoms present in the second sib were suggestive of @DISEASE$, but the severe @PHENOTYPICFEATURE$ in both sibs is unusual.	has_symptom
+0b8c60ad86c89b7d2547060bbfa50a8778bf3b5e	@PHENOTYPICFEATURE$ and hyperphosphatemia caused by PTH resistance are the only discernible abnormalities in @DISEASE$ (PHP-1b).	has_symptom
+66d4ac74d509f3e50ec78f2013a7676264bea95e	This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, @DISEASE$, carbonic anhydrase II deficiency, congenital mental deficiency and idiopathic familial basal ganglia calcification as another developmental cause of @PHENOTYPICFEATURE$, which usually show no disturbance in serum calcium level.	has_symptom
+4e69fccd11a485b7a46f274039dd28b30fa37321	This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, @DISEASE$, carbonic anhydrase II deficiency, congenital @PHENOTYPICFEATURE$ and idiopathic familial basal ganglia calcification as another developmental cause of brain calcification, which usually show no disturbance in serum calcium level.	false
+4022ab86092973eabadfd80e1185825c9611517c	This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, tuberous sclerosis, carbonic anhydrase II deficiency, congenital mental deficiency and idiopathic familial @PHENOTYPICFEATURE$ as another developmental cause of @DISEASE$, which usually show no disturbance in serum calcium level.	false
+8e172a4a95fb66790ef20028e3bde9a903328a32	This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, @DISEASE$, carbonic anhydrase II deficiency, congenital mental deficiency and idiopathic familial @PHENOTYPICFEATURE$ as another developmental cause of brain calcification, which usually show no disturbance in serum calcium level.	false
+a2b0b5076ed47a7bdf32ae7e544b99b65c87e805	This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, tuberous sclerosis, carbonic anhydrase II deficiency, congenital @PHENOTYPICFEATURE$ and idiopathic familial basal ganglia calcification as another developmental cause of @DISEASE$, which usually show no disturbance in serum calcium level.	false
+5381c7910723682fd1e8fe1280a441450cd50ef1	The authors report on a case of @DISEASE$ diagnosed in the neonatal period on the basis of intracardiac tumor, rib anomalies and @PHENOTYPICFEATURE$.	has_symptom
+78f3c924538dd358c1e9df5772a7f208abe864b4	The authors report on a case of @DISEASE$ diagnosed in the neonatal period on the basis of intracardiac @PHENOTYPICFEATURE$, rib anomalies and cerebral calcifications.	false
+d2dd05bc0e61452d821929ed13df2852db205b9e	The authors report on a case of tuberous sclerosis diagnosed in the neonatal period on the basis of intracardiac @PHENOTYPICFEATURE$, rib anomalies and @DISEASE$.	false
+d1b30095d8779c470cb009df14df6c1aa95e34a4	At 9 years @DISEASE$ (Bourneville-Pringle disease) was diagnosed, on the basis of sebaceous adenoma, white spots of the skin and periventricular @PHENOTYPICFEATURE$.	has_symptom
+4fe2b05186ba9d3d2fddb52637df36580d2aa1fd	We report on a male patient with @DISEASE$ (adenoma sebaceum and digital fibromas, renal angiomyolipomas and subependymal @PHENOTYPICFEATURE$), who presented with chylothorax.	has_symptom
+66e525ce2e806d532e969142c176d16f1844ec7d	Systemic abnormalities included a seizure disorder, periungual fibroma, and @PHENOTYPICFEATURE$ suggesting systemic @DISEASE$.	has_symptom
+4d06bec6a37d92236357fe3a164e14b3f4bd83c8	The discovery at CT-scanning of @PHENOTYPICFEATURE$ raises a possible connection of LAM with Bourneville's @DISEASE$.	has_symptom
+12212e83daac520ffae5392ceb1a204bce6120da	The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of @DISEASE$, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and @PHENOTYPICFEATURE$.	has_symptom
+6009d11fcc884484826290ef2b75e06d1298d38e	The authors report a case of a six-year-old boy with @PHENOTYPICFEATURE$, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and @DISEASE$.	false
+8e5cc5d947cb7479405fd5c645f3a453ac801ddc	The authors report a case of a six-year-old boy with seizures, @PHENOTYPICFEATURE$ and some classic features of @DISEASE$, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications.	false
+a0f4b197cfaae79e9c5a53052bb4064f1834d3fd	The authors report a case of a six-year-old boy with seizures, @PHENOTYPICFEATURE$ and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and @DISEASE$.	false
+4b33295a0a309380ffab0bc4027db0aef876861f	The authors report a case of a six-year-old boy with @PHENOTYPICFEATURE$, mental retardation and some classic features of @DISEASE$, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications.	false
+e97804d498b0c4d811228efef09043b6294de309	A case of @DISEASE$ with @PHENOTYPICFEATURE$, retinal phakoma and premature canities is reported for its interesting features.	has_symptom
+9d92202de9e6b2163f553693f2d20b3e81b57ec1	On the basis of our findings and the literature, it is proposed that such @PHENOTYPICFEATURE$ deposits may be part of the neurofibromatosis syndrome and are caused by calcium deposits in glial proliferations, analogous to the calcified deposits seen in @DISEASE$.	has_symptom
+6a922538d9cff17a997c48a581d8abb52f185176	The third one presented with @PHENOTYPICFEATURE$ as found in both @DISEASE$ and Sturge-Weber syndrome, though he had no clinical symptoms of phakomatosis.	has_symptom
+d720782df5c74fc21ca9bb2715a18139bda27436	We present a 28-year-old man with diagnosed Rubinstein-Taybi syndrome (RSTS), known as "@DISEASE$" with co-existing lacrimal caruncle @PHENOTYPICFEATURE$.	has_symptom
+a10a910db4893862838aa521bb0fed0a6dfa2154	We present a 28-year-old man with diagnosed @DISEASE$ (RSTS), known as "Broad thumb-Hallux syndrome" with co-existing lacrimal caruncle @PHENOTYPICFEATURE$.	has_symptom
+690833ac987d97257dd8841464b9154f7c31ac4f	The unusual @PHENOTYPICFEATURE$ and aged appearance of the patient add 2 facets to the natural history of @DISEASE$.	has_symptom
+64f4c32308ff08ffe2c5e249c0035329acd86809	@DISEASE$ is characterized by distinctive facial and limb features and is associated with several types of @PHENOTYPICFEATURE$.	has_symptom
+4c64e5e83a2c14f523fbbf53d6b0874d44b33ea7	Keloids and @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+bcb95ce1c1d13b2a4d14f8b37e35f38dfe117fdd	The 14 tumors reported in @DISEASE$ since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental @PHENOTYPICFEATURE$, especially of the head, which is malformed in the syndrome.	has_symptom
+9ddfc057db966dd13767947f78f7f837bae4805b	The 14 @PHENOTYPICFEATURE$ reported in @DISEASE$ since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome.	has_symptom
+d3a0c3e58abff2904743f672d3f62a51208ffbdb	Mutations of these components result in various human malformations or @PHENOTYPICFEATURE$, i.e., holoprosencephaly, Gorlin syndrome, Greig encephalopolysyndactyly, Pallister-Hall syndrome, @DISEASE$, basal cell carcinomas, and medulloblastomas.	has_symptom
+778360409194e24ebf03cc82167c870747efe0d5	@DISEASE$ (RSTS) is an autosomal-dominant disorder characterized by intellectual disability, skeletal abnormalities, growth deficiency, and an increased risk of @PHENOTYPICFEATURE$.	has_symptom
+42f5c211358d4f11f4623aa76cd75765da0089c5	Rubinstein-Taybi syndrome (RSTS) is an autosomal-dominant disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, growth deficiency, and an increased risk of @DISEASE$.	false
+9c6d190c21d5a32e43c8bd503cdba92f41c6a0ff	@DISEASE$ (RSTS) is an autosomal-dominant disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, growth deficiency, and an increased risk of tumors.	false
+b897673b8116e9c3a53db50a061b6bd478e29309	@DISEASE$ (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of @PHENOTYPICFEATURE$.	has_symptom
+bdc6de98c0901dcaf6ac9c60c8d85743e78d26cd	Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and @PHENOTYPICFEATURE$, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of @DISEASE$.	false
+864f8adecadf6e9162edc15b17da747e3a6a590d	@DISEASE$ (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and @PHENOTYPICFEATURE$, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors.	false
+476538c0dbe79336ce9fd5e1da2bf03272ef2e3a	Other important familial diseases with increased meningioma risk include nevoid basal cell carcinoma syndrome, multiple endocrine neoplasia 1 (MEN1), Cowden syndrome, Werner syndrome, BAP1 @PHENOTYPICFEATURE$ predisposition syndrome, @DISEASE$, and familial meningiomatosis caused by germline mutations in the SMARCB1 and SMARCE1 genes.	has_symptom
+90f08169c7acd136d7d07c5440bc06dc24d2f5b4	In a series of 574 individuals with the @DISEASE$, 28 had keloids, and 19 had one or more @PHENOTYPICFEATURE$.	has_symptom
+b230d1356379b12f04138944ad81c2f3317746b0	We reported a 23-year-old female patient with @DISEASE$ characterized with short body stature, asymmetry, @PHENOTYPICFEATURE$, fifth finger clinodactyly and dislocation of hip.	has_symptom
+5a5101a1c7f8c771833e571423a627708bc4c7db	The @DISEASE$ (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later @PHENOTYPICFEATURE$.	has_symptom
+c77dfae526f5f5199242a7d73c282c727cdcb4c7	The @DISEASE$ (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, @PHENOTYPICFEATURE$, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia.	false
+9f1e60d986fa7668c1ab99eec8a19e6c0558a7e0	The @DISEASE$ (SGBS) is an @PHENOTYPICFEATURE$ condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia.	false
+fb3d0c8c8d20b469c6f12ed258de6ab84de00a43	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, @PHENOTYPICFEATURE$, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later @DISEASE$.	false
+880daf4b259fc89b40ba4d9ee6f295b9eff7908e	The Simpson-Golabi-Behmel syndrome (SGBS) is an @PHENOTYPICFEATURE$ condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later @DISEASE$.	false
+ba2af8b0f235cfe2ebd86b76d438792a0fa14a2a	The @DISEASE$ (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, @PHENOTYPICFEATURE$ and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia.	false
+0c0e3d6c0e49fbd4282e39725722ba43712c672a	The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, @PHENOTYPICFEATURE$ and fingernail hypoplasia, and an increased risk of neonatal death and later @DISEASE$.	false
+a7aa3812e198accd565adac9315390b95e37a4c7	Marsupialisation of kerastocystic odontogenic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+faeda577fdfaf58174c83692db3d4e6d855bcf83	The present case underlines the need for long-term survey of patients suspected of having @DISEASE$, who could be at risk for embryonic @PHENOTYPICFEATURE$.	has_symptom
+a84bb4b081c9df750331fc2d60a65883b4e75b34	Patients with rare overgrowth disorders, such as Beck-Wiedemann syndrome and @DISEASE$, are predisposed to embryonal tumours, including Wilms' @PHENOTYPICFEATURE$ of the kidney.	has_symptom
+66fffc863f66a0bfa6a0682c4f2afe901c215a48	Patients with rare overgrowth disorders, such as Beck-Wiedemann syndrome and @DISEASE$, are predisposed to embryonal @PHENOTYPICFEATURE$, including Wilms' tumour of the kidney.	has_symptom
+1ee4dfef12667cf72c87693b79ede25a36398213	Patients with rare @PHENOTYPICFEATURE$ disorders, such as Beck-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome, are predisposed to embryonal tumours, including @DISEASE$' tumour of the kidney.	false
+b1df70893af84e3784976a8e46265f268986373f	Patients with rare @PHENOTYPICFEATURE$ disorders, such as Beck-Wiedemann syndrome and @DISEASE$, are predisposed to embryonal tumours, including Wilms' tumour of the kidney.	false
+f3d8c0c2847aede2b5c5e0586382b3cdfc980118	Patients with rare @PHENOTYPICFEATURE$ disorders, such as Beck-Wiedemann @DISEASE$ and Simpson-Golabi-Behmel syndrome, are predisposed to embryonal tumours, including Wilms' tumour of the kidney.	false
+92da5f24ad518808b1e90ec73c0f9451e8101171	Patients with rare @PHENOTYPICFEATURE$ disorders, such as Beck-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome, are predisposed to embryonal tumours, including Wilms' @DISEASE$ of the kidney.	false
+3271883a620ed66eee0ce7561339f58f2b7c8708	Patients with rare @PHENOTYPICFEATURE$ disorders, such as Beck-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome, are predisposed to embryonal @DISEASE$, including Wilms' tumour of the kidney.	false
+977e9e314c9a64d85f4fec49f7fa22c819005e78	Furthermore, our finding of a GPC3 normal daughter of an @DISEASE$ carrier with skeletal abnormalities and Wilms @PHENOTYPICFEATURE$ raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.	has_symptom
+3dc8d40f3c9508913aa5bc6a389a44a30f8b2876	Furthermore, our finding of a GPC3 normal daughter of an @DISEASE$ carrier with @PHENOTYPICFEATURE$ and Wilms tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.	false
+fda4a3f87e7e818b1425295d3b6ca2de29489d2a	Furthermore, our finding of a GPC3 normal daughter of an SGBS carrier with @PHENOTYPICFEATURE$ and @DISEASE$ tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.	false
+db8ee7c340ba77d5285ee5de0c52a3ec96fc51f7	Furthermore, our finding of a GPC3 normal daughter of an SGBS carrier with @PHENOTYPICFEATURE$ and Wilms @DISEASE$ raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.	false
+86e55b1c818a3a1e35fd52cc0ee9c324c975d760	(4) Surveillance should continue until 5 years of age in all conditions except Beckwith-Wiedemann syndrome, @DISEASE$ and some familial Wilms @PHENOTYPICFEATURE$ pedigrees where it should continue until 7 years.	has_symptom
+13120d3fdb253ac62fc2cc9a45f5727b6573dafd	We report a 3 year old male patient with @DISEASE$ and hepatocellular carcinoma, a previously undescribed @PHENOTYPICFEATURE$ associated with the syndrome.	has_symptom
+41661b53731233ac48d77f8b9662c19320658134	In some OGS (Beckwith-Wiedemann, Perlman, @DISEASE$ and hemihypertrophy) tumors appeared mostly in the abdomen (more than 94% of @PHENOTYPICFEATURE$), are usually diagnosed before 10 years, and most of them are embryonal.	has_symptom
+005078bf390a81c23cbad94340a16dc7c1e06fac	In some OGS (Beckwith-Wiedemann, Perlman, @DISEASE$ and hemihypertrophy) @PHENOTYPICFEATURE$ appeared mostly in the abdomen (more than 94% of tumors), are usually diagnosed before 10 years, and most of them are embryonal.	has_symptom
+83ae52bd23438ae4a27627ae66d0b71cef2546bf	In some OGS (Perlman, Beckwith-Wiedemann, and @DISEASE$ and hemihyperplasia) more than 94% of @PHENOTYPICFEATURE$ appeared in the abdomen usually before 10 years of age, mainly embryonal in type.	has_symptom
+5599a8bfb4c248b6ccc89e62b5d682d41266fe3e	human glypican 3 (GPC3) is mutated in @DISEASE$ making an individual prone to @PHENOTYPICFEATURE$ (Nat.	has_symptom
+8c292c0fcd9c37a3a0deae7c16b4b171a53ad0f4	Chronic @PHENOTYPICFEATURE$ is a common manifestation among patients with @DISEASE$ (SCA) who develop chronic lung disease.	has_symptom
+eddbf01881c7fb1a4872efe2d5d7dce114b93304	PSC was the only type of @PHENOTYPICFEATURE$ in patients with @DISEASE$'s syndrome and autosomal recessive RP.PSC development correlated with early onset of RP symptoms.	has_symptom
+b954f6815a81b9d1e0e9e1ba7137e218290e3e28	Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (@DISEASE$, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and @PHENOTYPICFEATURE$ surgery.	has_symptom
+df13fe8fedb53286fb4aa53c163f37f7c2ca6f3e	Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (@DISEASE$, Refsum disease, and Leber congenital amaurosis) who underwent @PHENOTYPICFEATURE$ surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery.	has_symptom
+dc5e9cdc15c4f2d3d948fe912e70b258981ece9b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	has_symptom
+ecbaac4f779d8900dfa6bc4f809c2e356d3e856e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, @DISEASE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+cb9a59c69e6877297ad4e7280e194459d14f606e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, @DISEASE$, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+1eb4aefb838b7e2898f04ce03da238c7fe60f41a	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	false
+b159214352a57143526b34e03107ccca492563b7	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	false
+74abab5f394aaf0ad4a0c8fe111aaf16e1b5a31e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, @DISEASE$, Bardet-Biedl syndrome, and Usher syndrome.	false
+04dd537d53b3f58236658f806491409e3d2fec59	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including @DISEASE$, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+1ddeefa7cfe3d03086d4af89d553023032a5c827	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+45fe7a080bc042edb03bfe8cbf8510607560d63b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+a952a549817fedd8d49752870d958737c1eaec00	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, @DISEASE$, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+fc20aa485af30288e1e585ad60a5ce1a68ba1872	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, @DISEASE$, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+d5f4d66c6001c9f360622ac744024bff4afd577a	Novel syndrome of @PHENOTYPICFEATURE$, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new @DISEASE$ subtype with X-linked inheritance?	has_symptom
+2bf394aa072cf28cf32c8d8295ff45335d4f1f1f	Novel syndrome of @DISEASE$, retinitis pigmentosa, late onset @PHENOTYPICFEATURE$ and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?	false
+c6d5604c4ed565135d300806fbcb4f8e7090523a	Novel syndrome of cataracts, @DISEASE$, late onset @PHENOTYPICFEATURE$ and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?	false
+25bacac776717c431d0eb9796dadd1c2c42ec255	Novel syndrome of cataracts, retinitis pigmentosa, late onset @PHENOTYPICFEATURE$ and sperm abnormalities: a new @DISEASE$ subtype with X-linked inheritance?	false
+dd43cfa110e501237f74f6d629fbc6aa48697935	The typical RP @PHENOTYPICFEATURE$ (PSC) was found in similar frequencies among all genetic types of RP.PSC was the only type of lens opacity in patients with @DISEASE$'s syndrome and autosomal recessive RP.	has_symptom
+2310dd7bce49239bf2445cdefddbd07a490c712d	The typical RP cataract (PSC) was found in similar frequencies among all genetic types of RP.PSC was the only type of @PHENOTYPICFEATURE$ in patients with @DISEASE$'s syndrome and autosomal recessive RP.	has_symptom
+0f77096f99bfa69584c86d4002c24060e2d6c048	Plasma exchange in the treatment of Wegener's granulomatosis, microscopic polyangiitis, @DISEASE$ and renal limited @PHENOTYPICFEATURE$.	has_symptom
+11b0f8a712e21d865a4b14457ba002f0cf8bbfee	Vasculitis syndromes associated with malignant disease include cutaneous leucocytoclastic @PHENOTYPICFEATURE$, polyarteritis nodosa, @DISEASE$, microscopic polyangiitis, Wegener's granulomatosis and Henoch-Sch?nlein purpura.	has_symptom
+96a540b013309f4331c1afc1b88c6ce41c00b0b0	@DISEASE$ is a systemic and pulmonary @PHENOTYPICFEATURE$, defined by its association with severe asthma and with hypereosinophilia of the blood and tissues.	has_symptom
+b3dcef6280b990fc54bf71089e6db568def3e375	This group includes granulomatous vasculitides, namely, granulomatosis with polyangiitis (GPA), @DISEASE$ (EGPA), and nongranulomatous @PHENOTYPICFEATURE$, namely, microscopic polyangiitis (MPA).	has_symptom
+6bfeafed80ee98ab83153388960f98465e845574	Nineteen patients (50%) had Wegener granulomatosis, 16 patients (42%) had microscopic polyangiitis, 2 patients had CNS @PHENOTYPICFEATURE$, and 1 patient had @DISEASE$.	has_symptom
+96a540b013309f4331c1afc1b88c6ce41c00b0b0	@DISEASE$ is a systemic and pulmonary @PHENOTYPICFEATURE$, defined by its association with severe asthma and with hypereosinophilia of the blood and tissues.	has_symptom
+67487ad3428096aa686cef7da9fb6f68a73cb6d4	@DISEASE$ (CSS) is a rare cause of @PHENOTYPICFEATURE$ neuropathy.	has_symptom
+df10d6452242383d05fa77c85d9db146a8606bcc	It predominantly involves patients with microscopic polyangiitis, Wegener's granulomatosis, renal limited @PHENOTYPICFEATURE$ and, in a smaller proportion, @DISEASE$.	has_symptom
+b78bfb7847c952e54f59d9ab7dca21d2eb89ae53	@DISEASE$, recently renamed eosinophilic granulomatosis with polyangiitis (EGPA), is a rare form of systemic @PHENOTYPICFEATURE$, characterized by disseminated necrotizing vasculitis with extravascular granulomas occurring among patients with asthma and tissue eosinophilia.	has_symptom
+89a01e255c3fcf77d325ede88cc800675fcda2cb	The ANCA-associated vasculitides include Wegener's granulomatosis, microscopic polyangiitis, @DISEASE$ and renal limited @PHENOTYPICFEATURE$.	has_symptom
+d8b23167c788474d1d1126d3b691def02e364031	The prevalence of @DISEASE$ after traumatic brain (TBI) injury is widely variable in the literature; a meta-analysis determined a pooled prevalence of @PHENOTYPICFEATURE$ of 27.5%.	has_symptom
+dabec3b7e74f10b918ca0e738f99a323394f2ef2	We reviewed the literature for traumatic brain injury (TBI)-related @DISEASE$ and found that the prevalence of @PHENOTYPICFEATURE$ may be as high as 30-80% after 24-36 months.	has_symptom
+22984257fc2cff14f7d089c0449051b1da49c00a	The frequency of post-traumatic @PHENOTYPICFEATURE$ (PTHP) varies according to the severity, the type of trauma, the time elapsed since injury, the study population, and the methodology used to diagnose @DISEASE$.	has_symptom
+30d6b3580e8bd1046436dc9dc5c22e8d8693a218	We describe here the first patient manifesting PVNH in combination with @DISEASE$, a @PHENOTYPICFEATURE$ of the OPD-spectrum.	has_symptom
+29cb4a5e98ed3ceeb36096e4ce65f973ec819f65	@DISEASE$ (FMD) is a distinctive sclerosing @PHENOTYPICFEATURE$ associated with a number of non-skeletal manifestations including hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract.	has_symptom
+a7de2f1dd01d4af16546326ab4d988725b0d282b	@DISEASE$ is an X-linked trait primarily characterized by a @PHENOTYPICFEATURE$ comprising hyperostosis of the skull and modeling anomalies of the tubular bones.	has_symptom
+ef68666cdc3fbf0c0f269dffcd93f9ced1c3bbb9	@DISEASE$, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by @PHENOTYPICFEATURE$, such as hyperostosis of the skull and abnormalities of tubular bone modeling.	has_symptom
+9c2afe857332db55b57a425f766f094485ff07a7	@DISEASE$ (FMD) is a progressive sclerosing @PHENOTYPICFEATURE$ affecting the long bones and skull.	has_symptom
+6cf3e269a2a8eb9482672b6595cdaf749fb1c812	[@DISEASE$ and progressive postpoliomyelitis @PHENOTYPICFEATURE$].	has_symptom
+0ee897a8fa66eb3a5b04df7325feeff967b3a627	We conducted a computerized literature search up to July 2004 in MEDLINE, EMBASE, CINAHL, Web of Science, PsychInfo, and the Cochrane controlled trial register using the key words: postpolio, postpoliomyelitis, @DISEASE$, post poliomyelitis @PHENOTYPICFEATURE$, and poliomyelitis.	has_symptom
+6b24b438b3d3bddf99b7b4d62b41cbf6d23fbfe4	@DISEASE$ is characterized by a sudden or progressive loss of muscle strength, @PHENOTYPICFEATURE$, muscle pain, fatigue, intolerance to cold, after a period of at least 15 years from the acute polio virus infection, a period of neurological and functional stability.	has_symptom
+972745ec658c61ddd76dd065716c5776c36caf70	Intractable diarrhea of infancy (IDI) includes several types of early onset @PHENOTYPICFEATURE$; one of the rare etiologies is trichohepatoenteric (THE) syndrome, also known as @DISEASE$ (SD) which was primarily described by Stankler et al.	has_symptom
+da6577b016d6b388a2fc82b9adaa038d97c7a390	Inactivating mutations of the calcium-sensing receptor (CaSR), a G-protein-coupled receptor with extracellular (ECD), transmembrane (TMD) and intracellular (ICD) domains, cause familial hypocalciuric @PHENOTYPICFEATURE$, @DISEASE$ and occasionally primary hyperparathyroidism in adults.	has_symptom
+61f37c134423fb590c3859dc798c212be3afdba7	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric @PHENOTYPICFEATURE$ (FHH), @DISEASE$ (NSHPT) or autosomal dominant hypocalcaemic hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	has_symptom
+45a6602e9f8b20bec5c4df745f5e3b655d465ac1	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric @DISEASE$ (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemic @PHENOTYPICFEATURE$ (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+ef3e6f726ca64cb47b7ac0f3b9ad8fbfebf5c92c	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT) or autosomal dominant @PHENOTYPICFEATURE$ hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+c416212363ecd929da5227934907f98061b1e5c0	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric @DISEASE$ (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant @PHENOTYPICFEATURE$ hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+22f7d86f34953337db326322dea1fb3718db22e8	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT) or autosomal dominant hypocalcaemic @PHENOTYPICFEATURE$ (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+01507e16d6c8f00ff00b7930bc5be8c24c57a80c	@DISEASE$ (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked @PHENOTYPICFEATURE$ and hyperparathyroid bone disease.	has_symptom
+baf1d2941337a7b6bb7d35eace31918289471c07	Williams-Beuren syndrome (WBS), benign familial hypocalciuric @PHENOTYPICFEATURE$ (FHH), @DISEASE$ (NSHPT), Jansen's metaphyseal dysplasia, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	has_symptom
+1d1c7790a49c0da214b049c16bedd3e3df79ca6f	Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, @DISEASE$, malignancy were all ruled out.	false
+a3e36b3ff1bedfdb12ae04fcc9c6af6ad8c77874	Williams-Beuren syndrome (WBS), benign familial hypocalciuric @DISEASE$ (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+e58c696aa69a0c26b0888f835552a4e5bb0b7968	@DISEASE$ (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+4d64187e6872d968f30422c78d2dbcdf9b8b2d10	Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+2b6bead7050c6b5b334d38e1368c537802b16f4a	@DISEASE$ (PWS) is a genetic disorder which has widespread developmental consequences including motor, cognitive and @PHENOTYPICFEATURE$.	has_symptom
+df0798d84ee99302d3d5506d8943a49dcf97e682	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and @PHENOTYPICFEATURE$ of the palms and soles.	has_symptom
+173e3c8817edce55e8fb6078c630fe98735d4f21	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @PHENOTYPICFEATURE$, and hyperhidrosis of the palms and soles.	false
+e8c4fc61b4e73cf5310b4c1fcde41bd9f44b7ca6	Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @PHENOTYPICFEATURE$, and @DISEASE$ of the palms and soles.	false
+c6b89d05cd48a891eaec02839d656932866f143c	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+3ea1626e5173a7818019ed69ca90bf1cbd7f7e46	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+eb6be392005f151c8b76cfa92a75a188d82bf77f	Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and @DISEASE$ of the palms and soles.	false
+f9d942e7bd9a895f10d56647b64381bb166ca8c5	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, @PHENOTYPICFEATURE$, and hyperhidrosis of the palms and soles.	false
+70dba74fe698ef5fefe4ae126f7ffebd5a4a2db9	@DISEASE$ (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and @PHENOTYPICFEATURE$, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.	has_symptom
+bc4cb3b95844ae3c5d9678bf65e0d5604fe3e79c	@DISEASE$ (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, @PHENOTYPICFEATURE$, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.	false
+289d5ae8a164dd812eb169b4ff47ac2772b600c0	Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, @PHENOTYPICFEATURE$, and @DISEASE$, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.	false
+d2e4748d34a482f2f167a73c7a91d8f2a6c6f22e	Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of @DISEASE$ including severe oligodontia, nail dystrophy, @PHENOTYPICFEATURE$, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.	false
+d07e6cc056dda53773b62c15b94956ed9b34435c	@DISEASE$ (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by @PHENOTYPICFEATURE$ and iris discoloration.	has_symptom
+3167433341a0200cf6f8fcbf4538a283b5353665	@DISEASE$ (WS) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration.	false
+9444ed1c72b6f5a223fa23145ffad476df9f040b	Waardenburg syndrome (WS) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory pigmentary disorder characterized by @DISEASE$ and iris discoloration.	false
+1e9cfed63585855138eee814699e16ab65d9ed6f	Waardenburg syndrome (@DISEASE$) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration.	false
+508f0b44ec17f8cf227fed3c08597505b40881fb	Waardenburg syndrome (WS) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory @DISEASE$ disorder characterized by congenital sensorineural hearing loss and iris discoloration.	false
+8ec4a96b5d5583ca4dc3792422b916aa75281cd0	Waardenburg syndrome (WS) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory pigmentary @DISEASE$ characterized by congenital sensorineural hearing loss and iris discoloration.	false
+ba369e86823aeeb00e9826de3a46f2b9b5ad6ad2	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, @PHENOTYPICFEATURE$, and self-limited seizure disorder.	has_symptom
+861e467816def05a9c2b2dece93fad40435a8259	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, mental retardation, and self-limited seizure disorder.	false
+716d85c97d84904eff5073e5824863b8e4cc9f7f	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, @DISEASE$, and self-limited seizure disorder.	false
+590809abc75133c737319d446c12288a8118bf2e	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, mental retardation, and self-limited @DISEASE$.	false
+544a4ec60997a1ebe833d1c20f10925ad65eb112	Chronic lip @PHENOTYPICFEATURE$ with particular reference to the @DISEASE$ (MRS).	has_symptom
+5c82f33ea5478d011f5452b734db04cdbfbc36f5	@DISEASE$ (MRS) is an uncommon, complex neuromucocutaneous disorder characterized by recurrent orofacial @PHENOTYPICFEATURE$, facial palsy and fissured tongue.	has_symptom
+e2e8fd4ec8f45daf731d3b54b57dd511584b88f4	The @DISEASE$ (MRS) consists of recurrent @PHENOTYPICFEATURE$ of the lips, intermittent facial palsy and furrowed tongue.	has_symptom
+4f8e06d7d6f1bbb55e9e1103d88de1e799db9f7f	@DISEASE$ (MRS) consists of persistent or recurrent orofacial @PHENOTYPICFEATURE$, relapsing facial palsy and fissured tongue.	has_symptom
+0a184039d34e77790e26e813e8f683e06f5b944d	[Surgical treatment of @PHENOTYPICFEATURE$ of the hip in the @DISEASE$].	has_symptom
+8069524869d240ad2e4d325b140dc8ba75d587d8	@DISEASE$ is a rare condition which consists of progressive and recurrent orofacial @PHENOTYPICFEATURE$, intermittent facial palsy, and lingua plicata.	has_symptom
+9a100146880c64a9a2d59f72f3e532c2b6f307db	@DISEASE$ is characterized by facial or lip @PHENOTYPICFEATURE$, peripheral facial palsy and scrotal tongue.	has_symptom
+888e387629ce892f1b6cbe563216caf489c1453c	@DISEASE$ presenting with upper lid @PHENOTYPICFEATURE$ and facial palsy.	has_symptom
+dd3d798264ecfefaf586174e9bf35dd0320870a6	[Paralysis of the facial nerves with @PHENOTYPICFEATURE$, furrowed tongue (@DISEASE$) and hemicrania].	has_symptom
+f64b94151696832acd861e4cd3b18a8ab87fc674	[@PHENOTYPICFEATURE$ of the facial nerves with edema, furrowed tongue (@DISEASE$) and hemicrania].	false
+ebf85507f64d1aeb99408714f9edb98c7e62bd46	[@PHENOTYPICFEATURE$ of the facial nerves with @DISEASE$, furrowed tongue (Melkersson's syndrome) and hemicrania].	false
+2d9bc1b77ba788b7c10dcce85d6ec7720b6ea15e	This rare disease is generally accompanied by @DISEASE$ (MRS), characterized by scrotal tongue, orofacial @PHENOTYPICFEATURE$ and facial paralysis.	has_symptom
+f09c6cb1f04547c613d398a4b9ec99c41b19bdc1	@DISEASE$ is an autosomal dominant disease which is characterized by @PHENOTYPICFEATURE$ and narrow trunk, and macrocephaly.	has_symptom
+778308803700e48d3024cd89da3b891a8ddf6b3a	Achondroplasia is an autosomal dominant disease which is characterized by @DISEASE$ and narrow trunk, and @PHENOTYPICFEATURE$.	false
+b83b1115d5ca003016e7fdf2af8c661956ad33d3	Achondroplasia is an @DISEASE$ which is characterized by limb shortening and narrow trunk, and @PHENOTYPICFEATURE$.	false
+9a762866f96a4aabe05e60612d50ab87bb4a1004	@DISEASE$ is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and @PHENOTYPICFEATURE$.	false
+26298474f7e97fca25119ff35e093e3e3d725580	Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive @DISEASE$ with a lethal course, characterized by fetal hydrops, @PHENOTYPICFEATURE$, and abnormal chondro-osseous calcification.	has_symptom
+c5f0f6639924e7cec2ac4dbd471d4c62e8134d58	Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg @PHENOTYPICFEATURE$ is an autosomal recessive @DISEASE$ with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification.	false
+424c459f51250aca6d2b0354b00f00c7d3c9e382	Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg @PHENOTYPICFEATURE$ is an autosomal recessive chondrodystrophy with a lethal course, characterized by fetal hydrops, @DISEASE$, and abnormal chondro-osseous calcification.	false
+51fde1ba081cd061479982a0d8bb7b481f441907	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including short stature, @PHENOTYPICFEATURE$ bones, macrocephaly, and small vertebral bodies.	has_symptom
+f73f4109fe79bbecb3ef21092e577a3066f71e7c	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including @PHENOTYPICFEATURE$, shortened limb bones, macrocephaly, and small vertebral bodies.	false
+35ebc82d28d57562fc29cf9692df6979543f2201	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including short stature, shortened limb bones, @PHENOTYPICFEATURE$, and small vertebral bodies.	false
+9d5450665fed613ed5cb4e7e8c06185f7399eda8	Achondroplasia is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in @PHENOTYPICFEATURE$ including short stature, @DISEASE$ bones, macrocephaly, and small vertebral bodies.	false
+b2dc507f41fc00ecfe7c43bcf2b3af0e885e47f6	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in @PHENOTYPICFEATURE$ including short stature, shortened limb bones, macrocephaly, and small vertebral bodies.	false
+3b4d26d48efbdf8bb1517b4d79e63ab3b583cfd3	Achondroplasia is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including @PHENOTYPICFEATURE$, @DISEASE$ bones, macrocephaly, and small vertebral bodies.	false
+5306c3dd05ffbfa34b7f0da001a1c889ab670cdb	Achondroplasia is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including short stature, @DISEASE$ bones, @PHENOTYPICFEATURE$, and small vertebral bodies.	false
+6fec476ada7e2d19d5ab5b20564fb779db93d430	Early recognition of this disorder is possible from the abnormal body proportions with @PHENOTYPICFEATURE$ and lumbar lordosis without facial stigmata of @DISEASE$.	has_symptom
+b0aeceb1e1ab08c45113239327821463b70e934d	Disorders of mitochondrial import, export and translation, including sideroblastic anemia with @PHENOTYPICFEATURE$, EVEN-PLUS syndrome and @DISEASE$ due to nucleotide-binding protein-like protein gene defect, have also been implicated in ISC biogenesis defects.	has_symptom
+f244041be36b053472d458cf0e3f72eb035d6115	We experienced a patient with @DISEASE$ after operation for @PHENOTYPICFEATURE$.	has_symptom
+ebc03b0e628d0233381e3a878192f41170d4bec0	Development of @PHENOTYPICFEATURE$ during management of @DISEASE$.	has_symptom
+47f44b29d9e42e3be09fde02e97847e8a2d9e938	To identify characteristics associated with @PHENOTYPICFEATURE$ occurring during the course of @DISEASE$.	has_symptom
+be51b45e5f30b113b01e9a9dec9fb885d71ec6ba	[A case of @DISEASE$ after operation for @PHENOTYPICFEATURE$].	has_symptom
+efd08d08729140110dc00d3ad6478915db393c37	Variable expressivity of FGF3 mutations associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+70c788341de92777a0f5c9317e0dbcf08ea5b20e	Stereopsis of 400 arc seconds or better was detectable in 62% of patients, including 3 with @DISEASE$ @PHENOTYPICFEATURE$ and 3 who required strabismus surgery in the first year of life.	has_symptom
+4fd902e41eae0dc022c370e5b7aa0b1174db91d4	A total of 72 patients (109 eyes) were identified: 25 patients (26 eyes) with @DISEASE$ cataracts and 47 patients (83 eyes) with infantile @PHENOTYPICFEATURE$.	has_symptom
+24b9a65ab57d9fa1953978151a1b3d1cb7c2e8f3	A total of 72 patients (109 eyes) were identified: 25 patients (26 eyes) with @DISEASE$ @PHENOTYPICFEATURE$ and 47 patients (83 eyes) with infantile cataracts.	has_symptom
+98f1ad98052abafdebbe178d4a078c443e9c39b1	Although there was no significant difference between the prevalence of postoperative glaucoma in those with infantile and those with @DISEASE$ @PHENOTYPICFEATURE$, the prevalence of glaucoma in these patients is high.	has_symptom
+6dd65825d44a7bd31bdd982a85da196570d1488a	The charts of all of the patients who underwent lensectomy/vitrectomy for infantile and @DISEASE$ @PHENOTYPICFEATURE$ at the University of Iowa Hospitals and Clinics between 1975 and 1992 were reviewed.	has_symptom
+a40ac9ad41081430ed2eefa02695345920adfd0d	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+057fb8a81b7c12fe8accca9933580f2396855526	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked @PHENOTYPICFEATURE$, sex-linked @DISEASE$ and congenital retinal detachment.	false
+747e9fb5f9b5625ee38ccd834b330b8e0611bb3c	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile @DISEASE$, sex-linked @PHENOTYPICFEATURE$, sex-linked cataract and congenital retinal detachment.	false
+0f4fdb04a3fe5a0fcd20fce10571573901509772	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked @PHENOTYPICFEATURE$, sex-linked cataract and @DISEASE$.	false
+51da6e4e74b7ba1bebfd45684db451c0bdf5db3a	The main differential diagnoses comprise @DISEASE$, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked @PHENOTYPICFEATURE$, sex-linked cataract and congenital retinal detachment.	false
+fbbe591978d2054e7eb362b640c313e783ccbe3b	These were 42 eyes with congenital cataract (12 children with bilateral @PHENOTYPICFEATURE$, 9 eyes with mild anterior @DISEASE$ syndrome).	has_symptom
+16a2b50161304c3434be1ebdbd700aa502ae1f27	Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, @DISEASE$, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	has_symptom
+ddcc150947a23c0e01593c92fc0ef95bda3aaf28	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis @DISEASE$ and ichthyosis follicularis atrichia photophobia syndrome.	false
+3692930a99f133c12db1e04e14d2b1f19807a073	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, @DISEASE$, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+9323adcca3cdf78edf314210a360d362849e0825	@DISEASE$ ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+5f7d932aefc4bb528fb9e36c175ef1768fd1fe1c	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, @DISEASE$ hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+c55b4b3071933c6b030b9c0fcb7c7805491c8926	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @DISEASE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+c0a4a3b327874ab0abfbddfb7a253cb7befe95ff	Syndromic @DISEASE$ with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+2079f1d9c6e20960716f34bab636c2b29689f99d	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: @DISEASE$, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+0473dc8c6bc642e210e2e464667c62d81b6f24f3	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with @DISEASE$ (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and @PHENOTYPICFEATURE$, hypohidrosis and follicular atrophoderma.	has_symptom
+e78006fe6fb14fe761c92453ef296e65750a85a2	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (@DISEASE$), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and @PHENOTYPICFEATURE$, hypohidrosis and follicular atrophoderma.	has_symptom
+2020eac706ec20349fcd84406a9ad7392f12b421	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (@DISEASE$), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, @PHENOTYPICFEATURE$ and follicular atrophoderma.	false
+1f5ff781727f97431ef5be3d865cfa6959dc7264	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and @DISEASE$, @PHENOTYPICFEATURE$ and follicular atrophoderma.	false
+efb75d1be7f6ac1e4efee77e367a9c37549d0cd2	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to @DISEASE$ and hypotrichosis, @PHENOTYPICFEATURE$ and follicular atrophoderma.	false
+7308d8c90ac0c734c1c4abd01fa3d14a0341c8b6	Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with @DISEASE$ (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, @PHENOTYPICFEATURE$ and follicular atrophoderma.	false
+5741333dd9c7e4b5bc774177dadf4c1a9cc61c13	Genetic defects in matriptase are linked to two congenital ichthyoses: @DISEASE$ (ARIH, OMIM 610765) and ichthyosis, follicular atrophoderma, @PHENOTYPICFEATURE$, and hypohidrosis (IFAH, OMIM 602400).	has_symptom
+829874fca4eed377579e486cfa3f8f3005f04eb7	@DISEASE$, or acute febrile neutrophilic dermatosis, is characterized by the presence of fever, peripheral @PHENOTYPICFEATURE$, painful erythematous plaques and nodules, and a predominately neutrophilic dermal infiltrate.	has_symptom
+b41dba8c445e644b0a752ea44f9fd59b9ead8c7f	Together with the @DISEASE$ and the epileptic Encephalopathy related to Status Epilepticus during slow Sleep syndrome (ESES), RE is part of a single and continuous spectrum of childhood epilepsies and epileptic encephalopathies with acquired cognitive, behavioral and speech and/or @PHENOTYPICFEATURE$, known as the epilepsy-aphasia spectrum (EAS).	has_symptom
+0fb11c6c05fb6b2d86b2b9fe6b3abed9221540f4	PO rats showed progressive wall thickening consistent with concentric hypertrophy, while VO rats showed marked left @PHENOTYPICFEATURE$ consistent with @DISEASE$ hypertrophy.	has_symptom
+305772d9efd54efc8204aa7c08e0fb4e3a85abad	These findings suggest that @DISEASE$ hypertrophy of the remote myocardium, but not expansion of the infarct region, is responsible for left @PHENOTYPICFEATURE$ after AMI.	has_symptom
+aabefdca4a1af321c837e1a90217df283cfa9c6a	In response to chronic volume-overload, an increased diastolic wall strain leads to the addition of sarcomeres in series, resulting in a relative increase in cardiomyocyte length, associated with @DISEASE$ hypertrophy and @PHENOTYPICFEATURE$.	has_symptom
+b050ae29f9249810bb69c5de60f529c947d204ed	Three types of anatomic LVH were simulated: concentric and @DISEASE$ hypertrophy, and left @PHENOTYPICFEATURE$.	has_symptom
+bc39751b1d00431772823f5f9619b88574b1d6b6	Cardiac adaptation to obesity consists of left @PHENOTYPICFEATURE$ and hypertrophy (@DISEASE$ hypertrophy) irrespective of arterial pressure levels.	has_symptom
+4c17e01500bdc0ab2d9c022d40f0361aa3a64970	Cardiac adaptation to @PHENOTYPICFEATURE$ consists of left @DISEASE$ and hypertrophy (eccentric hypertrophy) irrespective of arterial pressure levels.	false
+e053f9dc2685acbd5a012725a62c7bea6e1cd803	Cardiac adaptation to @PHENOTYPICFEATURE$ consists of left ventricular dilatation and hypertrophy (@DISEASE$ hypertrophy) irrespective of arterial pressure levels.	false
+223a67a1728a01bdd1c3c3637be6e126808b7fb6	Aortic regurgitant animals developed left @PHENOTYPICFEATURE$ and @DISEASE$ hypertrophy that remained relatively stable throughout the follow-up period.	has_symptom
+7c626e4852eaf077c837e2fafda474a3768a9c9d	After TAC, RyR2(R4496C+/-) hearts responded with @DISEASE$ hypertrophy, substantial fibrosis, @PHENOTYPICFEATURE$, and reduced fractional shortening, ultimately resulting in overt HF.	has_symptom
+f7c85941eea0a74de504bbc5472bc278bea7c244	Autopsy demonstrated @DISEASE$ hypertrophy and mild left @PHENOTYPICFEATURE$.	has_symptom
+18e06ee2b3b076e4634e9a8ac0e41ce5c16aca1f	Animals with aortic regurgitation developed progressive left @PHENOTYPICFEATURE$ and @DISEASE$ hypertrophy.	has_symptom
+7b1269366c6dbce00f1bfd166c10f6228ebbb318	@PHENOTYPICFEATURE$ is observed from neonates to adulthood in @DISEASE$ patients, but muscle hypertonicity is extremely unusual in this syndrome.	has_symptom
+2226850e7ca996ca09c03b75dcb9b164b80dd029	@DISEASE$ is observed from neonates to adulthood in Down syndrome patients, but muscle @PHENOTYPICFEATURE$ is extremely unusual in this syndrome.	false
+17f78e5ffebe29913bbef860cce9112a8eaaddda	Muscle hypotonia is observed from neonates to adulthood in @DISEASE$ patients, but muscle @PHENOTYPICFEATURE$ is extremely unusual in this syndrome.	false
+bdc39c66dced057abfd1efb4c9c79e29211346ba	5-hydroxyindoles in the cerebrospinal fluid of infants with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a407beccb0529d22320ed7c43b25abf57f3df76d	The inherent joint laxity and @PHENOTYPICFEATURE$ of adults with @DISEASE$ (DS) may result in reduced gait stability and increased energetic cost.	has_symptom
+927d2389dfa0f59cebfa94b14885aa02d8afd6c7	Children with @DISEASE$ (DS) are prone to develop obstructive sleep apnoea (OSA) for a combination of reasons, including small upper airway, midfacial hypoplasia, micrognathia and @PHENOTYPICFEATURE$.	has_symptom
+b11f4045edaaad2aad4698e4e4836c6e794ff22f	Children with @DISEASE$ (DS) are prone to develop obstructive sleep apnoea (OSA) for a combination of reasons, including small upper airway, midfacial hypoplasia, @PHENOTYPICFEATURE$ and muscular hypotonia.	false
+614dad0e0a3f01162878b3177ea10bff9e5e639d	Children with Down syndrome (DS) are prone to develop obstructive sleep apnoea (OSA) for a combination of reasons, including small upper airway, midfacial hypoplasia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+760c12389a68905b8cd72cfe7a59a68c5dd91411	The presence of this cyst in conjunction with @DISEASE$ may be due, in part, to @PHENOTYPICFEATURE$.	has_symptom
+06844038afef168e6ba9817982fdefbf1f5334d7	Patients with @DISEASE$ (DS) suffer from @PHENOTYPICFEATURE$ and an altered motor coordination whose basic mechanisms are still largely unknown.	has_symptom
+18fd29f4d5d3819fcf13211aae884eaf226b2ca3	Comparison of preoperative and postoperative range of motion of the hip joint between groups detected capsular insufficiency, increased ligamentous laxity and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+68de9a82c92a925b44b250382d5c1880859a2164	Children with @DISEASE$ (DS) (n = 18) known to have marked @PHENOTYPICFEATURE$ were examined as a clinical model for functional evaluation of plantar arches in respect to body-weight-loading distribution.	has_symptom
+68caa63f33be482fe3b766fb89b8b199c785a7eb	Discordant monozygotic twins with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+585085b40255f7bfba9a242db9df70f2845759d0	There was a highly significant difference between the frequency of @PHENOTYPICFEATURE$ in our cases with @DISEASE$ and the frequency in the general population.	has_symptom
+7cfd9d4ba24e947117570475e6e2f8142fea1d2c	The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, @PHENOTYPICFEATURE$, acute lymphoblastic leukemia and @DISEASE$, and neurodevelopmental disorders in the autism spectrum and schizophrenia.	has_symptom
+0c8e5519d7d32b13ade67b2b9e6668ebdddd7425	The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, @DISEASE$, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the @PHENOTYPICFEATURE$ spectrum and schizophrenia.	false
+14f3bbd59904a899061768c10431079fcf51f421	The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and @DISEASE$, and neurodevelopmental disorders in the @PHENOTYPICFEATURE$ spectrum and schizophrenia.	false
+b770ff876a31f2a31623ae0056c42a91ee46d980	The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, @DISEASE$ and retinoblastoma, and neurodevelopmental disorders in the @PHENOTYPICFEATURE$ spectrum and schizophrenia.	false
+7e4ac936e5afe124d25ee5a76c57c83f53118c7c	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of @DISEASE$, hearing loss, bilateral inguinal hernias, submucous @PHENOTYPICFEATURE$, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	has_symptom
+12ba678b77ca0c1457d0999fe38bbb32346eab14	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, @DISEASE$, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, @PHENOTYPICFEATURE$, downslanting palpebral fissures, and a downturned mouth.	false
+6d86e3b87903d6b9ec6c3f70cc7279ec47e27598	We report a male dizygotic twin with an interstitial deletion of 13q and @PHENOTYPICFEATURE$, hypotonia, polymicrogyria, bilateral foci of @DISEASE$, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+5fd0559499f4b24d73cd03d3953fd55671578964	We report a male dizygotic twin with an interstitial deletion of 13q and @PHENOTYPICFEATURE$, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, hearing loss, bilateral inguinal hernias, submucous @DISEASE$, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+93be78d39a1e86b8ec679ab8c084f6e5c3ec9239	We report a male dizygotic twin with an interstitial deletion of 13q and @PHENOTYPICFEATURE$, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, @DISEASE$, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth.	false
+e3e3d37789383452aab1971fc861e73d361010c7	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of @DISEASE$, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, @PHENOTYPICFEATURE$, downslanting palpebral fissures, and a downturned mouth.	false
+4b84fcc2e6345121bf381f066abd393af558d4b5	We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, hearing loss, bilateral inguinal hernias, submucous @DISEASE$, and dysmorphic features including a triangular shaped face, broad forehead, small chin, @PHENOTYPICFEATURE$, downslanting palpebral fissures, and a downturned mouth.	false
+59d85af93bc6e58426a0aeb7e3f8207aa09725e5	The question of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7aecfc5ab9714f0942d58df97fc6bebf457af27c	Cytosolic calcium accumulation and delayed repolarization associated with @PHENOTYPICFEATURE$ in a guinea pig model of @DISEASE$.	has_symptom
+b847585606047a29de80f3ad2eae47c157de348c	@DISEASE$ (ATS) is a rare condition consisting of @PHENOTYPICFEATURE$, periodic paralysis, and dysmorphic features.	has_symptom
+ba9d30af4345036b8da27af47950215679240124	[@DISEASE$, @PHENOTYPICFEATURE$ and channelopathy (a case report)].	has_symptom
+20ad2d77c8c627c69de8b473f3b796163a6bd420	@DISEASE$ is an autosomal dominant condition characterized by dysmorphic features, periodic paralysis, and @PHENOTYPICFEATURE$.	has_symptom
+59f3a4ac6df3e27ea3b8bdc3ffc4c50c72eb4422	@DISEASE$ (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, @PHENOTYPICFEATURE$, and developmental dysmorphology.	has_symptom
+4cd35a8874cdfb8769c09bd80fb2520f3d07e075	Hypokalemic periodic paralysis, facial dysmorphism and @PHENOTYPICFEATURE$ (clinical triad of @DISEASE$).	has_symptom
+ac2af44d70ce15baca0ded17ff2dc03c9b30f9ae	@DISEASE$, @PHENOTYPICFEATURE$ and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).	false
+d18b65069f648f36ad4b4f9b033be2daaff90807	Hypokalemic periodic paralysis, @PHENOTYPICFEATURE$ and @DISEASE$ (clinical triad of Andersen-Tawil syndrome).	false
+4043d6b3cca6f659221945f103b93dda2f41b6d0	Hypokalemic periodic paralysis, @PHENOTYPICFEATURE$ and ventricular arrhythmia (clinical triad of @DISEASE$).	false
+17443f5874e234cd6cdd45745ee6cfa46d73737c	@DISEASE$ (ATS) is characterized by @PHENOTYPICFEATURE$, hypokalemic periodic paralysis and developmental anomalies.	has_symptom
+ff33c766810d0faeb64d07734d86a57b0844dfd0	@DISEASE$ (ATS) is an inherited disease characterized by @PHENOTYPICFEATURE$, periodic paralysis, and dysmorphic features.	has_symptom
+33f5fd9e993c5863fe380804170cdceb3f482644	@DISEASE$ (ATS) is characterized by a triad of periodic paralysis, @PHENOTYPICFEATURE$, and dysmorphism.	has_symptom
+d44a110c5f7620bd8a6ae22d6096f4da45e6c06e	@DISEASE$ (ATS1)-associated @PHENOTYPICFEATURE$ are initiated by frequent, hypokalemia-exacerbated, triggered activity.	has_symptom
+62993b41972e2b00fa0b795d82477e129993ddc2	@DISEASE$ (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild @PHENOTYPICFEATURE$ with hypochromia and microcytosis.	has_symptom
+777dcce77166b097052baa998a9be58d2dd9317d	We describe a case of @DISEASE$ presenting with atypical features, consisting of bilateral microphthalmia, coloboma, @PHENOTYPICFEATURE$ and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	has_symptom
+0e26c538dee217497eb7be6335bded1f7b03aa86	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, @DISEASE$ and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+88cb8ea52abb12df26c5027d1dc0a16bd18c31c0	We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with @DISEASE$.	false
+99e058ba41acfc23b0dabef8ff1c1048c923fee6	We describe a case of @DISEASE$ presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+8781f3cd8b813febc00b4c7b78d06eafe4f27ef7	@DISEASE$ is the leading cause of combined deaf-blindness, but the molecular mechanisms underlying the auditory and @PHENOTYPICFEATURE$ are poorly understood.	has_symptom
+b44beca3b8535fa5c123085b6071950de6e85cf6	@DISEASE$ (USH) is defined by the association of sensorineural deafness and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	has_symptom
+d148c785cef149845ec194efd0e44d52ba0caccd	Usher syndrome (USH) is defined by the association of @PHENOTYPICFEATURE$ and @DISEASE$ due to retinitis pigmentosa.	false
+1fc6aef0067a89df1f7904bc593b52bdfdf03962	@DISEASE$ (USH) is defined by the association of @PHENOTYPICFEATURE$ and visual impairment due to retinitis pigmentosa.	false
+0f8a0c81e631a5806234db434b1ac766b3587728	Usher syndrome (USH) is defined by the association of @PHENOTYPICFEATURE$ and visual impairment due to @DISEASE$.	false
+af003608066de3b122e1b3dd7932eb6f8c8f539c	[From gene to disease; genetic causes of hearing loss and @PHENOTYPICFEATURE$ sometimes accompanied by vestibular problems (@DISEASE$)].	has_symptom
+f012fc1ff1bfa4bfbda838d480864833bf6d8777	Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and @PHENOTYPICFEATURE$ (type 1 @DISEASE$; USH1F) or nonsyndromic deafness (DFNB23).	has_symptom
+ed061f7ecef4fafd2666ab8eb698ad4ee1177dce	Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and @DISEASE$ (type 1 Usher syndrome; USH1F) or nonsyndromic @PHENOTYPICFEATURE$ (DFNB23).	false
+7e9ba8e251644d6fdb1d292ef93c141b77d9db52	Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 @DISEASE$; USH1F) or nonsyndromic @PHENOTYPICFEATURE$ (DFNB23).	false
+ae9f7ecafe09ab6faa6dcaf1c9fbf67c58c9db06	To evaluate @PHENOTYPICFEATURE$ in @DISEASE$ 1b (USH1b) and Usher syndrome 2a (USH2a).	has_symptom
+c805990bc3e985cf560ecc929876fa9695d5ed15	To evaluate @PHENOTYPICFEATURE$ in Usher syndrome 1b (USH1b) and @DISEASE$ 2a (USH2a).	has_symptom
+3b21fe5f571ac64ecbfa13e8342408681bd5bad9	@DISEASE$ is a genetically heterogeneous disorder featured by combined @PHENOTYPICFEATURE$ and hearing loss.	has_symptom
+bdcbe896a59ea1918c1b335db8eed47cd305555b	@DISEASE$ (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, vestibular dysfunction, and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	has_symptom
+2dbf52d9875a277ee6750c1ef73222dca26c388b	Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$, and visual impairment due to @DISEASE$.	false
+e0934fb284231924e1ab11558da2991422112d2c	Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$ due to retinitis pigmentosa.	false
+68676fe86bbfbb11848e95d73c240888d13eb01e	Usher syndrome (USH) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment due to @DISEASE$.	false
+3bcba099080fbfe0bde7ae1a82f29f665a1d9bd4	Usher syndrome (USH) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and @DISEASE$ due to retinitis pigmentosa.	false
+8966bdadb0d0b1b72c3607d2ca539e6137f179cf	@DISEASE$ (USH) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment due to retinitis pigmentosa.	false
+87aae70e6a7459662904bb326a2c5f7edca9ce9b	@DISEASE$ (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$, and visual impairment due to retinitis pigmentosa.	false
+95a372d3d9edc33d5eb2c89c1892988d0191978c	Evaluation of @PHENOTYPICFEATURE$ in Usher syndrome 1b and @DISEASE$ 2a.	has_symptom
+63ccc6a1600d7ea33c705a2e3b462ab5b0da88c4	Evaluation of @PHENOTYPICFEATURE$ in @DISEASE$ 1b and Usher syndrome 2a.	has_symptom
+a5ee60d9c07d6f2dfb49bc2d741e75e23e88be7a	@DISEASE$ is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction, and @PHENOTYPICFEATURE$ due to retinitis pigmentosa (RP).	has_symptom
+2f5abf1c2dd3222e3dd38fa5a91f67d277ba9cc7	Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable @PHENOTYPICFEATURE$, and @DISEASE$ due to retinitis pigmentosa (RP).	false
+b3d7ef9f3abf546dffa1f644524e40d3e71c2327	Usher syndrome is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, variable vestibular dysfunction, and visual impairment due to @DISEASE$ (RP).	false
+8fe14827b0d8a5748753263293b9b64ce091df74	Usher syndrome is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, variable vestibular dysfunction, and @DISEASE$ due to retinitis pigmentosa (RP).	false
+b548110f3ad2ccdc2e1315ea1cee619488155f79	@DISEASE$ is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP).	false
+394b63f9ac335018423093cec56982136bb8d1c6	@DISEASE$ is an autosomal recessive condition characterized by sensorineural hearing loss, variable @PHENOTYPICFEATURE$, and visual impairment due to retinitis pigmentosa (RP).	false
+ccd502c6275695162734b3a813d0139112cc3d87	Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable @PHENOTYPICFEATURE$, and visual impairment due to @DISEASE$ (RP).	false
+9f1b228b4f4b5faa3d9b222d33dbe35ea10b35cf	@DISEASE$ includes hereditary pathologies characterized by bilateral sensorineural deafness and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	has_symptom
+8bfefaf7bb3237fa2ba70b4e1a3f18ac71b2e34d	Three features of @DISEASE$ that are not always appreciated are hypoplastic iliac wings, @PHENOTYPICFEATURE$, and brachydactyly.	has_symptom
+56c99eb2ac059690f5b2502abbd6ec936bceb324	Three features of cleidocranial dysplasia that are not always appreciated are hypoplastic iliac wings, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2eaa8944e58d859f4495ca8270086ad84ad0b2eb	Three features of @DISEASE$ that are not always appreciated are hypoplastic iliac wings, short stature, and @PHENOTYPICFEATURE$.	false
+a6a14a65e73639ea5e732a1c7027292191f27198	@DISEASE$ (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, @PHENOTYPICFEATURE$, and other skeletal abnormalities.	has_symptom
+85a7c7f73dfbad2bf57f2ad6e4a9545a014df761	@DISEASE$ (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other @PHENOTYPICFEATURE$.	false
+63727785053895d590bcce7ee50bb9b5856d72bb	Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, @DISEASE$, and other @PHENOTYPICFEATURE$.	false
+9739e4738baed860cca9155485e6e02590518fa4	@DISEASE$ is an autosomal-dominant condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and @PHENOTYPICFEATURE$.	has_symptom
+6183e1cb1b906e343c8b9e2df01603561973574d	@DISEASE$ is an @PHENOTYPICFEATURE$ condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and short stature.	false
+f9184124671d4ad5796b5d7658a32890617bce46	@DISEASE$ is an autosomal-dominant condition characterised by widely patent calvarial sutures, @PHENOTYPICFEATURE$, supernumerary teeth and short stature.	false
+c06417181d8cfd71be5a7f6515a36b1beb16d9ed	Cleidocranial dysplasia is an autosomal-dominant condition characterised by widely patent calvarial sutures, @PHENOTYPICFEATURE$, supernumerary teeth and @DISEASE$.	false
+db6bfd722f2c9e0226380c7f6f571fcff6e8e654	Cleidocranial dysplasia is an @PHENOTYPICFEATURE$ condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and @DISEASE$.	false
+0bcf6eb50ce6d106e6da8751ede8bf67439bb9d5	@DISEASE$ (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, @PHENOTYPICFEATURE$, tooth anomalies and other variable skeletal changes.	has_symptom
+b3a0b8539d568b1f71e908287427d6bc4c9078ea	Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant @PHENOTYPICFEATURE$ characterised by hypoplastic clavicles, patent fontanelles, @DISEASE$, tooth anomalies and other variable skeletal changes.	false
+cce737f142405cba1df5c8f56ef98e7ee281c911	@DISEASE$ (CCD; MIM 119600) is an autosomal dominant @PHENOTYPICFEATURE$ characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes.	false
+4f20e122459ce3ecaedd95ba8035aa9ac2bc9fd8	@DISEASE$ (CCD, #119600), which is characterized by hypoplastic clavicles, open fontanelles, supernumerary teeth and a @PHENOTYPICFEATURE$, is caused by heterozygous mutations in RUNX2.	has_symptom
+a9ba2d2c9c2ee2b77184f6d1a7f73bf68a3667af	Runt-related transcription factor 2 (RUNX2) haploinsufficiency causes @DISEASE$ (CCD) which is characterized by supernumerary teeth, @PHENOTYPICFEATURE$, clavicular dysplasia, and osteoporosis.	has_symptom
+68ad62e1e9aadae9a2720a4f68082efb096fd37e	@DISEASE$ (CCD, MIM #119600) is an autosomal-dominant disorder characterized by hypoplasia or aplasia of clavicles, patent fontanelles and @PHENOTYPICFEATURE$.	has_symptom
+ab203797a400c905e5d9894fdfa8f00a7a8a4f1d	@DISEASE$ (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, @PHENOTYPICFEATURE$, supernumerary teeth, and other skeletal anomalies.	has_symptom
+8a4af2ae13726be34ccb110d41fc47115e570ccd	@DISEASE$ (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other @PHENOTYPICFEATURE$.	false
+3bafad34bb872565e6bac318c798e7fa181cd200	Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, @DISEASE$, supernumerary teeth, and other @PHENOTYPICFEATURE$.	false
+0d2d5fb80e24a235a7dfc89f3e971ce3a87ec618	@DISEASE$ is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by @PHENOTYPICFEATURE$, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations.	has_symptom
+2aa7db7fe85b634f626a3cdfc68a6bdc9a3fbd81	@DISEASE$ (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, @PHENOTYPICFEATURE$, and other changes in skeletal patterning and growth.	has_symptom
+5e0fbca32abcde144a2d3e44e09b248419701117	The @DISEASE$ is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and @PHENOTYPICFEATURE$ and a high incidence of early postnatal lethality.	has_symptom
+8fe6ace7b94810d005860cf45b948d8b881ac7c5	Although @DISEASE$ (22q11DS) is associated with early-life @PHENOTYPICFEATURE$, affected individuals are also at high risk for the development of schizophrenia symptoms, including psychosis, later in life.	has_symptom
+731c6aab4a11a77d34dc5c1c761e3ee32c83140f	@DISEASE$ is a rare genetic disorder consisting of truncal obesity, hypotonia, @PHENOTYPICFEATURE$, characteristic facial appearance and ocular anomalies.	has_symptom
+c63df4f73ea7f136848e6ed9b6c6ab9bbec0f748	@PHENOTYPICFEATURE$, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (@DISEASE$).	has_symptom
+18b40169142079f7a6495b91b01d56cc462d67b0	Mental retardation, hypotonia, obesity, ocular, facial, dental, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+4cbe2b221ad231824eb177f8015d0dd26e748610	@DISEASE$, hypotonia, @PHENOTYPICFEATURE$, ocular, facial, dental, and limb abnormalities (Cohen syndrome).	false
+f3887fdb99053b06ef020d7b6bd42e00f2fe2be9	@DISEASE$, hypotonia, obesity, ocular, facial, dental, and @PHENOTYPICFEATURE$ (Cohen syndrome).	false
+5d3fbb85d0bf39df8a53a1c04b9b6b894f1cae8a	Mental retardation, hypotonia, @PHENOTYPICFEATURE$, ocular, facial, dental, and limb abnormalities (@DISEASE$).	false
+2e9d588872feedcc55834cfa42943482e3ba301b	@DISEASE$ is an uncommon autosomal recessive condition comprising a characteristic facial appearance, @PHENOTYPICFEATURE$, benign neutropenia, and retinal dystrophy.	has_symptom
+2358a50c9dcd2e62232e1d67e1f96a58b9991be2	Homozygosity mapping in a family with microcephaly, @PHENOTYPICFEATURE$, and short stature to a @DISEASE$ region on 8q21.3-8q22.1:	has_symptom
+63a2510a9cc159d856036c8fc024c92fbf5379bf	Homozygosity mapping in a family with @PHENOTYPICFEATURE$, mental retardation, and short stature to a @DISEASE$ region on 8q21.3-8q22.1:	false
+60feb2db1cbffd8ea53773136d6bcf9a9f6f6ea4	Homozygosity mapping in a family with microcephaly, mental retardation, and @PHENOTYPICFEATURE$ to a @DISEASE$ region on 8q21.3-8q22.1:	false
+347a4f8c7df602c52df7fb1ad77ea56e465c1693	Homozygosity mapping in a family with microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$ to a Cohen syndrome region on 8q21.3-8q22.1:	false
+75c6d56578bfc203a17d4c4c91b01cfaff4ecc59	Homozygosity mapping in a family with @PHENOTYPICFEATURE$, @DISEASE$, and short stature to a Cohen syndrome region on 8q21.3-8q22.1:	false
+b6694506a879ac8048d1224a530d39ad481cfeab	@DISEASE$ patients present with @PHENOTYPICFEATURE$ in 99% of cases, but learning disabilities featured in less than half of TNS affected dogs.	has_symptom
+3104be8f6228543fa9ebb14652021c19eb57e1d4	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia.	has_symptom
+dc32a782428e85f1d6033fc0149bdcb36f3e0039	Cohen syndrome is characterised by @DISEASE$, postnatal microcephaly, @PHENOTYPICFEATURE$, pigmentary retinopathy, myopia, and intermittent neutropenia.	false
+c2b0b5b88d0c947800921641ef95959d2444c771	@DISEASE$ is characterised by mental retardation, postnatal microcephaly, @PHENOTYPICFEATURE$, pigmentary retinopathy, myopia, and intermittent neutropenia.	false
+dd21b95962070081d70bd7116871ffc083465a38	Cohen syndrome is characterised by mental retardation, postnatal microcephaly, @PHENOTYPICFEATURE$, pigmentary retinopathy, @DISEASE$, and intermittent neutropenia.	false
+ba288f5a3a1df3971f46bc563fe7953209ab2678	Cohen syndrome is characterised by mental retardation, postnatal @DISEASE$, @PHENOTYPICFEATURE$, pigmentary retinopathy, myopia, and intermittent neutropenia.	false
+731c6aab4a11a77d34dc5c1c761e3ee32c83140f	@DISEASE$ is a rare genetic disorder consisting of truncal obesity, hypotonia, @PHENOTYPICFEATURE$, characteristic facial appearance and ocular anomalies.	has_symptom
+c4ec7fbf906b196d66ee6e0c31b778d992608928	@DISEASE$ is a multiple congenital anomalies-@PHENOTYPICFEATURE$ syndrome associated with granulocytopenia.	has_symptom
+7b9cc1c0094929dbcf7fe9ec67e56ca7a99070c4	The diagnosis of @DISEASE$ should be suspected in @PHENOTYPICFEATURE$ children with the above characteristics.	has_symptom
+dc9f0b6c57257f144cceefac4c44792fda138b4f	@DISEASE$ is a rare genetic disorder consisting of truncal obesity, hypotonia, @PHENOTYPICFEATURE$, microcephalia, characteristic facial appearance and ocular anomalies.	has_symptom
+ee3dc336edbc8abaac35c21c7d515d850842dc40	@DISEASE$ or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and failure to thrive.	has_symptom
+f07828602a0a96d00f2ad48b440507dc7167e803	Trichohepatoenteric syndrome or @DISEASE$ is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and failure to thrive.	has_symptom
+ee8e22364d3ca0fecaed8a55b943226fde5570bb	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @DISEASE$ dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	false
+4a23028f3a26a873a6d000048adfdacbf582bc8b	Trichohepatoenteric syndrome or @DISEASE$ is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	false
+36fdd30540362844cbfe1021c59bcfa24f30c213	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable @DISEASE$, facial and hair abnormalities, liver dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	false
+b09028f0a520bea55dd7f1e18c67e77ee732b388	@DISEASE$ or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	false
+c1c97c06eef991ad85d35661d4122ce61f513975	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive @DISEASE$ characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	false
+a60ddfbbac4206c9c81937f51bf9a2b4fff78e40	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7e1086f7e0121fb3914f59c0beeb9463c494508a	This review offers some basic information on the discovery of a new type of mutations being the cause of some significant neurologic diseases: myotonic dystrophy, Huntington's disease, @DISEASE$, spinobulbar pallido-louysian @PHENOTYPICFEATURE$, fragile X syndrome and some other, up to a total of ten entities.	has_symptom
+07a9818eec73bfdbf79cb826cf2691c50a107e15	DNA ligase IV deficiency syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	has_symptom
+730ba739516cc52d8a6a21dacaab466319088ce1	@DISEASE$ syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, @PHENOTYPICFEATURE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	has_symptom
+294bfeb34220f8e27b03a13c3c6a8638b202a356	DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+a2c94027b952fa220cc477fca5c9eb970c24ac8b	DNA ligase IV deficiency syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+3694ec1584bd6d9c6f57152fb2bdc75e017ee2ea	DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic @DISEASE$ findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+815bd9901f9a77b6fa01a7e7f99eb1449484d6a7	DNA ligase IV deficiency @DISEASE$ (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+eac2ce654c7d00dd371239af68a79afbaa23fd15	@DISEASE$ syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+2edb408a07205a636f8c179083367dc1662d6577	DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, low birth weight, dysmorphic facial findings, @DISEASE$, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining.	false
+99ad0a5d65c217caa4d95628eb605326374b01ba	The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human @DISEASE$, showing immunodeficiency and @PHENOTYPICFEATURE$.	has_symptom
+79e5509ef0ed44bc75a326ba1afc2f6fe1cd600f	Microcephaly and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	has_symptom
+27d2bc8b1412ea38fa93b8ced775916deb30445d	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with microcephaly, @PHENOTYPICFEATURE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	has_symptom
+46bcd7e0c2a737ac8ab5c5e42d6664a069e75544	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, @DISEASE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+a21494b03fea9f22b889b6aa3dc3ab1089b6911b	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	false
+6ec823070803622c15dfa61e0cbac80dc4ea4ee6	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+8c1f4acd4ba240330f4564837a93153d5c5b8f14	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 @DISEASE$).	false
+9661d82016e067a1daf94c368c8932ce902728b6	@PHENOTYPICFEATURE$ and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+bb94edc820502c8a862e4d955b55dd61e8bf4d3b	Microcephaly and @DISEASE$ are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+cc7be0fac535017432c62c5e3cb1a7276497981a	Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 @DISEASE$).	false
+a6e808109826ae79d96c4cc4cfb809db4e01aa1f	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to @DISEASE$ (NHEJ1 syndrome).	false
+af5cb8052870dd13df65d618b0fdb14a8ba9c90b	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, @DISEASE$, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+204f9f3114739256aaa0fbca0b99b36ce9b8da71	Microcephaly and immunodeficiency are common to @DISEASE$ (LIG4 syndrome) and severe combined immunodeficiency with @PHENOTYPICFEATURE$, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+ba5ac314cef01c28b40d3be1604ada7942c5dbb3	@PHENOTYPICFEATURE$ and @DISEASE$ are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+9ce3942c6226f5ea435aef7cce9884c070fcc151	@PHENOTYPICFEATURE$ and immunodeficiency are common to DNA ligase IV deficiency (@DISEASE$) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).	false
+8690fa4137a088b9c1e3f0778e99c3daeaf8c3cf	The clinical phenotype of Ligase IV syndrome (@DISEASE$), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	has_symptom
+881e07855fda6ca520520a88393073bc247cb0b2	The clinical phenotype of Ligase @DISEASE$ (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.	false
+b801cd96abce0ae88cc165598455c79cab0633a9	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of @DISEASE$ (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.	false
+f5f216cf14371fc5d8dd79b15c56398a3103262f	The clinical phenotype of Ligase IV syndrome (@DISEASE$), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.	false
+0763d51d932a3dad016b7b1d627627b983040ced	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and @DISEASE$.	false
+7d250af6004690acf84d3cc62d7087ee4a7aed69	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, @DISEASE$, developmental delay, and immunodeficiency.	false
+0d9814613b7a60d7cd914681b87c150e5a2a78c4	The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (@DISEASE$), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.	false
+de2eb0c28bbaef39363f565af6109978ce81ef35	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to @PHENOTYPICFEATURE$, childhood hypotonia and facial dysmorphisms.	has_symptom
+24566e2695c6556ad2467f36366030b0595756cb	The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to @DISEASE$, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+281515810f4594548173497f0cbd86c87052d46f	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+129d4ed42f62657e74c7ed114dfaec3adae25059	@DISEASE$ is a severe human disorder, associated with dyskeratosis, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+c3e57c209551148c3a8abf707171896069182dfe	@DISEASE$ is a severe human disorder, associated with dyskeratosis, anemia, and @PHENOTYPICFEATURE$.	false
+9566b01d37b3e8ef26177c54921beed48946c943	Dyskeratosis congenita is a severe human disorder, associated with dyskeratosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c34e1974962e6eee95a0930c9a15d57bb51d5d9a	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	has_symptom
+ac2287249c17b4321ade40e140752e6cb9f727a3	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+5b33fd600afd939aa67c712949c40710cbc2958a	The clinical features resembled the @DISEASE$ (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+911de3be62cae976c192be35e5cc0b7f7ce783ca	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+465639f71dba67e13798411f25796be7358906cb	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+a1a49447bb9fe965a311dcb8dc0044721c5425f5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow @DISEASE$, growth deficiency, and speech delay.	false
+1614e38708a39f9088678966d2b41ab97c0060b1	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and @DISEASE$.	false
+9bcd24945a7e98bc0038a7ca7c13cf31f77c6249	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+94a944f84a04ed332d491d77170c1515c497499b	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow @DISEASE$, @PHENOTYPICFEATURE$, and speech delay.	false
+17832bf44ae8645f280cde9a1dacdca2645c2fa0	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and @DISEASE$.	false
+9ddcaa5512089d98e250c56059f8f62879242234	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7d96079158e237d0722faed7bc5dfe5b7ec4c350	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+74cce7e513c5676f72f9fc0c69b4eb55aba4f604	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow @DISEASE$, growth deficiency, and speech delay.	false
+9497484057dd6a83b616a71754e94b323b627022	Unusual manifestations of @DISEASE$: pulmonary nodules, cough, conjunctivitis and otitis with @PHENOTYPICFEATURE$.	has_symptom
+fb888d8559a56c202809ad7074bec1b77fc2da96	In this report, we describe a one-year-old girl of the @DISEASE$(MDS) with lissencephaly, @PHENOTYPICFEATURE$, microcephaly and mental disorders.	has_symptom
+7081ad2766316247cd2f689c08700ebad2402076	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(@DISEASE$) with lissencephaly, @PHENOTYPICFEATURE$, microcephaly and mental disorders.	has_symptom
+0a48be717f09333f4333e6afc944062b2b6b2774	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, seizures, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+09e237955e091ab4528217e01613ed63b986cced	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, @DISEASE$, @PHENOTYPICFEATURE$ and mental disorders.	false
+de522e2b4d490a2f89445488efe171a361f6de18	In this report, we describe a one-year-old girl of the @DISEASE$(MDS) with lissencephaly, seizures, @PHENOTYPICFEATURE$ and mental disorders.	false
+bcbf7b2ce5884b42809e428c034933cd6db97b17	In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(@DISEASE$) with lissencephaly, seizures, @PHENOTYPICFEATURE$ and mental disorders.	false
+03584cb0bef10a7c7ac483797a4819b65d52b381	To evaluate the electroclinical course and the correlation Electroencephalographic (EEG) pattern and @PHENOTYPICFEATURE$ in an infant with Miller Dieker Syndrome (@DISEASE$) during the first year of life.	has_symptom
+a6094fb177c87736bcf1a98f307579dc84d646ed	Nevertheless, the agreement among nursing home records, paper @DISEASE$ and electronic MDS is great enough to allow the electronic MDS to be used as a research tool, but more investigation of the actual criteria used by nursing home physicians in diagnosing epilepsy and @PHENOTYPICFEATURE$ is necessary.	has_symptom
+25b22d735b6f17663eda42eb6ae0168e298340fc	We report that one 18-year-old female patient with no epilepsia history developed severe epileptiform @PHENOTYPICFEATURE$ while she was receiving "ciclosporin A (CsA)-mycophenolate-methylprednisolone" antirejection therapy after combining one week's voriconazole administration following allogeneic hematopoietic stem cell transplantation (allo-HSCT) for myelodysplastic syndromes (@DISEASE$).	has_symptom
+cce2e7ceb1d0947e464701026944ea83f8d83b62	Deletion of the terminal end of 17p is responsible for Miller-Dieker syndrome (@DISEASE$), which is characterized by lissencephaly, distinctive facial features, growth deficiency, and intractable @PHENOTYPICFEATURE$.	has_symptom
+2fd8eda7bf9cdd5c4cb10faeca7b38bf3e9a3cbb	Deletion of the terminal end of 17p is responsible for @DISEASE$ (MDS), which is characterized by lissencephaly, distinctive facial features, growth deficiency, and intractable @PHENOTYPICFEATURE$.	has_symptom
+78496fa93d3c36cafa21d84a35d5d44f77421ba2	A 64-year-old man with transfusion-dependent myelodysplastic syndrome (@DISEASE$), hypertension, chronic obstructive pulmonary disease, hypothyroidism, blindness from treated syphilitic chorioretinitis, and no prior @PHENOTYPICFEATURE$ history presented in generalized status epilepticus.	has_symptom
+b7815cf64f111609c96c46019a3b3bb40f2b546e	The patients did not have the classical CFC phenotype and presented other signs not usually seen in @DISEASE$ patients: the first patient had @PHENOTYPICFEATURE$, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases.	has_symptom
+3b448a2408ffef9c486e3867629115c84bdb48c0	The patients did not have the classical @DISEASE$ phenotype and presented other signs not usually seen in CFC patients: the first patient had @PHENOTYPICFEATURE$, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases.	has_symptom
+99b30937fefd2062faed2f5b5086cb313f165467	A review of the literature showed that, although non-specific, ventriculomegaly, @PHENOTYPICFEATURE$, and cortical atrophy represent the most frequent imaging findings of brain anomalies in @DISEASE$.	has_symptom
+c9ba8d0b36d5878f4757333407a15f4bfbab2202	Those with Noonan syndrome or @DISEASE$ had a high instance of serious cervical spine disorders, including cervical stenosis, Arnold-Chiari malformation, and syringomyelia in the Noonan syndrome individuals and @PHENOTYPICFEATURE$, cervical stenosis, torticollis, and Arnold-Chiari in the CFC syndrome individuals.	has_symptom
+56e4be97725ba8e5df61fbeb6d917b67c90c4a3e	Those with Noonan syndrome or CFC syndrome had a high instance of serious cervical spine disorders, including cervical stenosis, Arnold-Chiari malformation, and syringomyelia in the Noonan syndrome individuals and @PHENOTYPICFEATURE$, cervical stenosis, torticollis, and Arnold-Chiari in the @DISEASE$ individuals.	has_symptom
+74a8e38aaddff71fe0ce4a6f368384ab554d794c	@DISEASE$ presenting as mutation negative Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+3ddbefb04441a526bf2bc3c30426cf809980c7fe	@PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+0e67a53e6306f6f7fc77318dfd4628bcb220843a	Deficiency of ROR-alpha causes ataxia in mice and may account for @PHENOTYPICFEATURE$ in @DISEASE$ patients.	has_symptom
+385af600c32f6657187d83a05d7e1666e376d801	Deficiency of ROR-alpha causes @PHENOTYPICFEATURE$ in mice and may account for ataxia in @DISEASE$ patients.	has_symptom
+d92bed83c37658f985b89858c5b7f5b74856c130	@DISEASE$: a treatable neurologic disorder resembling Friedreich's @PHENOTYPICFEATURE$.	has_symptom
+4ed6ecc440f7fe347a35f89f1b218c3d9568d18e	Clinical comparison between @DISEASE$ patients with 744 del A mutation and Friedreich @PHENOTYPICFEATURE$ with GAA expansion in 15 Moroccan families.	has_symptom
+997efd249098175ef36951e65fbcdbe43efd8ecd	However, we would underline the importance of considering hereditary ataxia due to @DISEASE$ as a specific and treatable cause of child @PHENOTYPICFEATURE$.	has_symptom
+793d646b0f814799ef08b8db28b7794f072bb30d	However, we would underline the importance of considering hereditary @PHENOTYPICFEATURE$ due to @DISEASE$ as a specific and treatable cause of child ataxia.	has_symptom
+43e0b1707e272f9b5a99769f73b6c7272a0e8006	Mutations in alpha-TTP are associated with a neurological syndrome of spinocerebellar ataxia, called @PHENOTYPICFEATURE$ with vitamin E deficiency (@DISEASE$).	has_symptom
+bffa9d34ff526e36885a4d7fcea9535ce9ca53a9	Mutations in alpha-TTP are associated with a neurological syndrome of spinocerebellar @PHENOTYPICFEATURE$, called ataxia with vitamin E deficiency (@DISEASE$).	has_symptom
+77bde9b958d1bb0d25f358990abf758179466183	Treatment of @PHENOTYPICFEATURE$ in @DISEASE$ caused by alpha-tocopherol transfer protein deficiency.	has_symptom
+c8ace810358012f951baf93a6cf9ce195cc23528	Here, we report a familial spinocerebellar @PHENOTYPICFEATURE$ (FSCA), which has clinical features similar to Friedreich's ataxia, an @DISEASE$, and ataxia telangiectasia.	has_symptom
+e18015c17f72bdf13c84fbf90043180c6352c854	Here, we report a familial spinocerebellar ataxia (FSCA), which has clinical features similar to Friedreich's @PHENOTYPICFEATURE$, an @DISEASE$, and ataxia telangiectasia.	has_symptom
+077e7bc37e9ac0d5ff9c7e1d7403c097bd9e69dd	Friedreich ataxia and @PHENOTYPICFEATURE$ with selective vitamin E deficiency (@DISEASE$) share very similar clinical phenotypes.	has_symptom
+eec55f6c89cb6a1fca86b0e0ae55d6966e96c10c	Friedreich @PHENOTYPICFEATURE$ and ataxia with selective vitamin E deficiency (@DISEASE$) share very similar clinical phenotypes.	has_symptom
+9d928645766ab0ac1984334323709acdbc3e7c10	Although @DISEASE$ is not uncommon, irreversible @PHENOTYPICFEATURE$ due to lithium appears to be a rare, idiosyncratic event.	has_symptom
+a6b13d58dc5b7e1b1bce60c60390c27224a02277	Infrequent voiding in @DISEASE$ as a cause of @PHENOTYPICFEATURE$.	has_symptom
+75a0e87b88c99c8590bd84663af718d001adad73	Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of @PHENOTYPICFEATURE$, Fanconi syndrome, and @DISEASE$.	has_symptom
+fb269dda19507ec7e0c3e63eaed04bc4ad1c9d17	Decreased expression of renal AQP has been detected in several disorders associated with polyuria and impaired ability to concentrate urine, as exemplified by @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+494b9bb991ab3a67ff7ab82246a83968d0d434e0	He initially showed evidence of a renal tubular acidosis, mild @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+ec9ab19df8d234935cba2df4366a48a1795fe0d1	Seven patients with lithiumogenic hyperparathyroidism occurring after years of lithium therapy underwent treatment and manifested osteoporosis (n = 2), hypertension (n = 2), nephrolithiasis (n = 1), coma (n = 1), rising hypercalcemia (n = 1), goitrous myxedema (n = 4), @DISEASE$ (n = 2), @PHENOTYPICFEATURE$ (n = 2), and hyperlipidemia (n = 1).	has_symptom
+b8fa9ade3b0500dde6d6d2ee4c7afcb3d87c2465	The excretion of cyclic AMP in urine has been examined in normal children and in children with @DISEASE$ or moderate @PHENOTYPICFEATURE$ (predominantly defective concentrating ability) under basal conditions and in response to antidiuretic hormone (ADH) and parathyroid hormone (PTH).	has_symptom
+fe917c7a6f126407465573f7e5417ac3c17ce851	@PHENOTYPICFEATURE$, proximal tubular dysfunction, and @DISEASE$ were observed, and, in 2 cases, renal biopsy revealed severe tubular necrosis with characteristic nuclear changes.	has_symptom
+6e98b84852921a3d83c13b8bc6547dd232faf692	Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) (OMIM: *610456) and @PHENOTYPICFEATURE$-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7 deletions, myelodysplastic syndrome (@DISEASE$), and bone marrow failure.	has_symptom
+5e741471b424121dd4dee9a396d147642f57d892	The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (@DISEASE$) such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders such as progressive external ophthalmoplegia, @PHENOTYPICFEATURE$-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy.	has_symptom
+0c86825be741fbd24513e1a09c75f94b918f57f3	This review focuses on our current understanding of nuclear gene mutations that produce mtDNA alterations and cause mitochondrial depletion syndrome (@DISEASE$), progressive external ophthalmoplegia (PEO), @PHENOTYPICFEATURE$-neuropathy, or mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).	has_symptom
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+3ce77117aac3f8e008e42a6681f4fd8287406436	All patients (mean age 42.1 (4.4) years) had intestinal and five had extraintestinal symptoms (@PHENOTYPICFEATURE$, buccal aphthae, @DISEASE$, polyarthralgia, Raynaud's phenomenon, arterial hypertension).	has_symptom
+9684b30c979ece15a7527c44a6e58f5aa127c7f0	All 6 patients presented a pyramidal syndrome which was associated with @PHENOTYPICFEATURE$ in 3, myositis in 1 and a @DISEASE$ in 3. Two groups of patients could be identified.	has_symptom
+f10c693461e9adad57297a2693a944f82b96ae20	@PHENOTYPICFEATURE$ associated with the @DISEASE$.	has_symptom
+aa090d397283b77705bc894523ade5b5430922c3	They subsequently developed @PHENOTYPICFEATURE$, joint contractures, scleroderma-like changes, Raynaud phenomenon, pulmonary hypertension, @DISEASE$, and liver disease.	has_symptom
+76a679f249dfd4738b0b99bae7717e4c764fe17f	They subsequently developed peripheral neuropathy, joint contractures, scleroderma-like changes, Raynaud phenomenon, pulmonary @PHENOTYPICFEATURE$, @DISEASE$, and liver disease.	false
+38405801b59cc5c8b37441cc1d48d0d1084d2c02	They subsequently developed peripheral neuropathy, joint contractures, scleroderma-like changes, Raynaud phenomenon, pulmonary @PHENOTYPICFEATURE$, sicca syndrome, and @DISEASE$.	false
+f73001b7e2f91d1d5f5d195d69ecf5a8a8c13313	They subsequently developed @DISEASE$, @PHENOTYPICFEATURE$, scleroderma-like changes, Raynaud phenomenon, pulmonary hypertension, sicca syndrome, and liver disease.	false
+f7089b217bb0424b89ea5093786aa6b17b281d55	They subsequently developed @DISEASE$, joint contractures, scleroderma-like changes, Raynaud phenomenon, pulmonary @PHENOTYPICFEATURE$, sicca syndrome, and liver disease.	false
+4e09e135835525689153f73bc327907a305cadc8	They subsequently developed peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma-like changes, Raynaud phenomenon, pulmonary hypertension, @DISEASE$, and liver disease.	false
+c249cd478e9135d8e85951a5bd9fb90e2d22b420	They subsequently developed peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma-like changes, Raynaud phenomenon, pulmonary hypertension, sicca syndrome, and @DISEASE$.	false
+7e36633843e5def85c10af20750ec842e90fec4e	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, @PHENOTYPICFEATURE$, sclerodermiform skin lesions, @DISEASE$, alopecia and joint contractures, among other findings.	has_symptom
+c85ddec5a7cc0f19592923914f13b9319cdfad1d	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, @DISEASE$, sclerodermiform skin lesions, sicca syndrome, alopecia and @PHENOTYPICFEATURE$, among other findings.	false
+9d6ef247b33c9864fc6bcfbfbccf5d22d36c3a79	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, peripheral nerve damage, sclerodermiform skin lesions, @DISEASE$, @PHENOTYPICFEATURE$ and joint contractures, among other findings.	false
+50d69ce38fb4c1bef87f42d39377b58d1dce6726	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, peripheral nerve damage, sclerodermiform skin lesions, @DISEASE$, alopecia and @PHENOTYPICFEATURE$, among other findings.	false
+e374d96a2f884f8a9049c2c9f4b917b9814fb233	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, @DISEASE$, sclerodermiform skin lesions, sicca syndrome, @PHENOTYPICFEATURE$ and joint contractures, among other findings.	false
+25d5543e77147152baa1a68d015291bec358102d	Most common clinical manifestations in CryoVas are skin lesions (orthostatic purpura and ulcers), weakness, @PHENOTYPICFEATURE$, Raynaud's phenomenon, @DISEASE$, membranoproliferative glomerulonephritis, and arthralgia and seldom arthritis.	has_symptom
+1a29ac589e4cd977d154b4e57308e72bbf2c3b0d	Clinical findings were variable, depending on the location of visceral infiltrate by activated, polyclonal lymphocytes of CD8 phenotype: interstitial pneumonia (n = 3), parotid gland enlargement with @DISEASE$ (n = 2), pseudo-tumoral splenomegaly (n = 1), @PHENOTYPICFEATURE$ (n = 1), superficial generalized lymphadenopathy (n = 5).	has_symptom
+633d3f6a63c9eb1d4dbedee7b9d6f7eebe0767a3	Light chain deposition disease should be recognized as an aetiology of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6aa473884cfc10e37fc16c5d5d37427ed4ba7f13	The spectrum of HCV-EHDs ranges from mild or moderate manifestations, such as arthralgia, @DISEASE$, @PHENOTYPICFEATURE$, to severe, life-threatening complications, mainly vasculitis and neoplastic conditions.	has_symptom
+76d958be80de6b4bfb268fd242a5326f7bbd0528	Plasma viscosity in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+3b2e2243ffb61e7f22236e2263b431ee72897230	@DISEASE$ patients express a neurodegenerative disorder and @PHENOTYPICFEATURE$.	has_symptom
+4f1ec949c4e551c75ba4883ea5d54d36ebff891b	Cardiorespiratory capacity of individuals with @PHENOTYPICFEATURE$ including @DISEASE$.	has_symptom
+a09cb59f128cdf4b50aedcb191fbc9b8493f372c	Reaction times of @DISEASE$ and other @PHENOTYPICFEATURE$ individuals.	has_symptom
+3e6899641306f69f7881ff8b88e841c2f3e3fe19	causes many phenotypes in @DISEASE$, including @PHENOTYPICFEATURE$.	has_symptom
+312ac29b5beb90612014b319be1bf7bef938bc01	@DISEASE$ or Down syndrome (DS) is the most common genetic cause of @PHENOTYPICFEATURE$.	has_symptom
+a212b334354c2c0116908bc1173ef1a2c898a2d9	Trisomy 21 or @DISEASE$ (DS) is the most common genetic cause of @PHENOTYPICFEATURE$.	has_symptom
+0c88d1cb17b8201529f0f98d12015a808adfe76f	@PHENOTYPICFEATURE$ in @DISEASE$: Two ways to treat.	has_symptom
+8e6282328ee96ffb4bd7dac4e32e5cfe30c5f2b1	Individuals with @DISEASE$ (DS) suffer from @PHENOTYPICFEATURE$.	has_symptom
+a09cb59f128cdf4b50aedcb191fbc9b8493f372c	Reaction times of @DISEASE$ and other @PHENOTYPICFEATURE$ individuals.	has_symptom
+3d8ba55e49a334aa47aa6a83601f8016156f20de	@DISEASE$ or Down syndrome (DS) is the most frequent genetic cause of @PHENOTYPICFEATURE$.	has_symptom
+21fe858d049872585a8a211f9b862bf1f087ad65	Trisomy 21 or @DISEASE$ (DS) is the most frequent genetic cause of @PHENOTYPICFEATURE$.	has_symptom
+55db22ae1a6945e4bb60fe01e95b98735db9c57e	@DISEASE$ is characterized by a sudden catastrophic compromise of hepatic failure that causes clinical signs such as anorexia, depression, @PHENOTYPICFEATURE$, diarrhea, icterus, and encephalopathy.	has_symptom
+41d988faa3df4ae8bb08e34abd60fdb43a56a353	@DISEASE$ is characterized by a sudden catastrophic compromise of hepatic failure that causes clinical signs such as anorexia, depression, vomiting, diarrhea, icterus, and @PHENOTYPICFEATURE$.	false
+e548770fda8295630e542a3519ea446a403c6634	Acute hepatic failure is characterized by a sudden catastrophic compromise of hepatic failure that causes clinical signs such as anorexia, depression, @DISEASE$, diarrhea, icterus, and @PHENOTYPICFEATURE$.	false
+6b3cd6580da4c56a07df9690cbd914fac6329a8b	Acute hepatic failure is characterized by a sudden catastrophic compromise of hepatic failure that causes clinical signs such as anorexia, depression, vomiting, @DISEASE$, icterus, and @PHENOTYPICFEATURE$.	false
+bf2d4bdb45cf720387cb564cbd02d8ffe655af45	Acute hepatic failure is characterized by a sudden catastrophic compromise of @DISEASE$ failure that causes clinical signs such as anorexia, depression, vomiting, diarrhea, icterus, and @PHENOTYPICFEATURE$.	false
+6eae09520fc0a12f2edf926bcac02b2a0e16e739	A 28-year-old patient admitted with jaundice, @PHENOTYPICFEATURE$ and deteriorating coagulopathy was diagnosed with @DISEASE$.	has_symptom
+6382c644f9ab3e48134637f3e5a0881d2190d060	He initially presented with a 6-day history of tiredness, decreased oral intake, nausea, @PHENOTYPICFEATURE$, and jaundice (yellow sclera and dark urine) with evidence of @DISEASE$, presenting as an increase in alanine aminotransferase (ALT)/aspartate aminotransferase (AST)/total bilirubin and a decrease in prothrombin activity.	has_symptom
+65b4f631d76c7110f702e24abd3ebf834b890103	A previously healthy female presented with @DISEASE$ at a local emergency room complaining of a 5-day history of fever, nausea, @PHENOTYPICFEATURE$, and right side abdominal pain that radiated to the back.	has_symptom
+54fc5c98c9761557d68ffb9cc8d946f527e015d5	We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including unusual facies, bilateral dislocations of the knees and elbows, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+f28ba28267484043c9d16ad1b69a88ad338e9cdc	We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including @PHENOTYPICFEATURE$, bilateral dislocations of the knees and elbows, club foot, and @DISEASE$.	false
+cb2f016ab66a99fe345ba3f8bf0e11fb8541a8fd	We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including @PHENOTYPICFEATURE$, bilateral dislocations of the knees and elbows, @DISEASE$, and short stature.	false
+46d92fd69a669213969b2bdaab89089fcb3bcfed	We report seven children from three families who had a set of common clinical features suggestive of Larsen-like @DISEASE$, including @PHENOTYPICFEATURE$, bilateral dislocations of the knees and elbows, club foot, and short stature.	false
+57d98d51e6da838dc17a03f9acb36c92417f369c	@DISEASE$ (MPS III) is characterized by progressive neurological deterioration, @PHENOTYPICFEATURE$, a relatively mild somatic phenotype, and early mortality.	has_symptom
+61205589f26f7fb480864cdd06be06c3a1e978d4	The macrophage electrophoretic mobility (MEM) test of Field and Caspary did not clearly separate patients with ocular neoplastic disease from those with inflammatory disease, although there was some indication of discrimination between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c024dbba0929b2025faff2b313d0c76febe96710	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, glaucoma, uveitis and other associated @PHENOTYPICFEATURE$ states, cataract, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and @DISEASE$.	has_symptom
+895349f4b7e90924037baf83bd95a3f53dd02a10	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, @PHENOTYPICFEATURE$, @DISEASE$ and other associated ocular inflammatory states, cataract, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and choroidal melanoma.	false
+31ae9c56228210c898a373b6e3dd66938242d7c1	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, glaucoma, uveitis and other associated ocular inflammatory states, @PHENOTYPICFEATURE$, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and @DISEASE$.	false
+7c4388a19d9b5b56da89e5d296343a0da0fbb66b	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, glaucoma, uveitis and other associated ocular inflammatory states, @PHENOTYPICFEATURE$, proliferative vitreoretinopathy, diabetic retinopathy, @DISEASE$, and choroidal melanoma.	false
+00aefcfb09a9cb5d54c69f03b9a6cda5592d6869	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, @PHENOTYPICFEATURE$, uveitis and other associated ocular inflammatory states, cataract, proliferative vitreoretinopathy, diabetic retinopathy, @DISEASE$, and choroidal melanoma.	false
+21aa2418e9b34bd613a66612ce23cadb4941c2c3	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, @PHENOTYPICFEATURE$, uveitis and other associated ocular inflammatory states, cataract, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and @DISEASE$.	false
+d927bdf6a285fc5e6846bd6b7d2a7b9b1517615e	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, glaucoma, uveitis and other associated @DISEASE$ states, @PHENOTYPICFEATURE$, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and choroidal melanoma.	false
+e3ea3dbe8f9aa1a61d8a17238b746a89a53b76ed	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, @PHENOTYPICFEATURE$, uveitis and other associated @DISEASE$ states, cataract, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and choroidal melanoma.	false
+96425bec0209785fece09abbcc4930224dd16613	Statins may play a role in reducing the burden of dry eye, corneal ulcer scarring, thyroid-associated orbitopathy, glaucoma, @DISEASE$ and other associated ocular inflammatory states, @PHENOTYPICFEATURE$, proliferative vitreoretinopathy, diabetic retinopathy, macular degeneration, and choroidal melanoma.	false
+5f297eb500139f9c6470239c8e764030513c9fae	The 17p13.3 deletion syndrome (or @DISEASE$, MDS, MIM 247200) is characterized by lissencephaly, @PHENOTYPICFEATURE$ and facial dysmorphism.	has_symptom
+39aaa990479a4935eccfa6a91fbaa7b065d1797f	The 17p13.3 deletion syndrome (or @DISEASE$, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+b63ff73082fd2039f63d00c6cdce6ed6bbaf60bd	The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6328b0491ea8a633c89437d62f058f77f07450a5	The 17p13.3 deletion @DISEASE$ (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+b5894d816e1e52984abc805bd2878433a74e212f	@PHENOTYPICFEATURE$ syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, @DISEASE$, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.	has_symptom
+1e7ff22440be0f392418fe14efe18dc544949cd5	MECP2 duplication syndrome (@DISEASE$) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe @PHENOTYPICFEATURE$, epilepsy, autistic symptoms, and early infantile hypotonia.	has_symptom
+f7585f4619e2f81f902ef613613e29fb0d4e299d	Classical lissencephaly is a genetic neurological disorder associated with @PHENOTYPICFEATURE$ and intractable epilepsy, and Miller-Dieker syndrome (@DISEASE$) is the most severe form of the disease.	has_symptom
+e1da52f78a543f06f6ef51d468329e7f9fb5669e	Classical lissencephaly is a genetic neurological disorder associated with @PHENOTYPICFEATURE$ and intractable epilepsy, and @DISEASE$ (MDS) is the most severe form of the disease.	has_symptom
+4d026913679c43aed346a73654be921bf27b78b6	Although disseminated histoplasmosis may manifest with classical symptoms of @PHENOTYPICFEATURE$ and respiratory complaints, it may also present atypically, such as with panniculitis and @DISEASE$.	has_symptom
+16b4c18e460cfd74d18157f8fb287b58bc05adca	Maternal complications included eclampsia, @DISEASE$, acute renal failure, subcapsular hepatic hematoma, @PHENOTYPICFEATURE$ and disseminated intravascular disease.	has_symptom
+3f0a2ecaed60b362946165808ad3d1be97cd1632	@DISEASE$, placental abruption, @PHENOTYPICFEATURE$, renal damage, prematurity, perinatal asphyxia, and low birth weight were also commonly reported.	has_symptom
+33a0a134e05b69c58be7d735f90b568ea1291592	@DISEASE$ with antepartum @PHENOTYPICFEATURE$--a case report.	has_symptom
+5fb929c9702036bbab04967c748e8c3e14685972	The main causes of ICU admission of preeclamptic women were @DISEASE$, coma and @PHENOTYPICFEATURE$.	has_symptom
+f3231494b13a158c6340062fe05903b6e306a121	Women were delivered in the event of fetal marked heart rate abnormalities, @PHENOTYPICFEATURE$, therapy-resistant hypertension or recurrent @DISEASE$.	has_symptom
+17ef70c6dfa4ac68b8fb833704abc803cd57c867	Complications were @PHENOTYPICFEATURE$, PPH, CVA, @DISEASE$, obstetric shock, DIC, acute renal failure.	has_symptom
+3624d1cb56077bbef199e394827a6d655dd9e7c3	Causes of maternal death were @PHENOTYPICFEATURE$, heart failure, CVA, @DISEASE$.	has_symptom
+f640fdf82606cbcc953d2d92bcc8fbff51958eb8	Causes of maternal death were @DISEASE$, @PHENOTYPICFEATURE$, CVA, HELLP syndrome.	false
+b8204e86e446a7fdda1e8b0c374b904c9af4c6ad	Causes of maternal death were pulmonary edema, @PHENOTYPICFEATURE$, CVA, @DISEASE$.	false
+2af33ffba16f839e437df4d5110d74154ab3670c	Our experience indicates that mortality depends upon visceral lesions (cerebral, disseminated intravascular coagulation, acute @PHENOTYPICFEATURE$, @DISEASE$).	has_symptom
+196a204ca1278c87de91a2947602a3409b2b16f2	Primary outcomes evaluated: maternal death, eclampsia, stroke, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+e261bce9a74ed9052a9585e7f25277e08101818d	[Acute @PHENOTYPICFEATURE$ during delivery of a pregnancy with @DISEASE$].	has_symptom
+bfd6c823cf80ae9cea3111cf010098c5eda50a11	Canavan disease is a severe autosomal recessive @DISEASE$ characterized by macrocephaly, ataxia, severe motor and @PHENOTYPICFEATURE$, dysmyelination, and progressive spongial atrophy of the brain.	has_symptom
+4e3e09b4d1c3d8fb22c91c84d48697ff49617b57	Canavan disease is a severe autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+d37db06b6fdca24c07ad508b2af50d411a965b93	@DISEASE$ is a severe autosomal recessive leukodystrophy characterized by @PHENOTYPICFEATURE$, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+ba10815af1c5eacbbb9c3daa8f29091234d26e48	Canavan disease is a severe autosomal recessive leukodystrophy characterized by @PHENOTYPICFEATURE$, ataxia, severe motor and @DISEASE$, dysmyelination, and progressive spongial atrophy of the brain.	false
+af741dafa8b2502174d272ffddabd3349456e5b2	@DISEASE$ is a severe autosomal recessive leukodystrophy characterized by macrocephaly, @PHENOTYPICFEATURE$, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+0bc6ab93a5a478c909a198336126b58b4a498078	Canavan disease is a severe autosomal recessive @DISEASE$ characterized by macrocephaly, @PHENOTYPICFEATURE$, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+bc463700b4538c8d656ec4d78659333cc288d352	Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, @PHENOTYPICFEATURE$, severe motor and @DISEASE$, dysmyelination, and progressive spongial atrophy of the brain.	false
+a06031041a0f5623d154025220dbcd3bc6073aab	In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of @PHENOTYPICFEATURE$, epilepsy, ataxia, and @DISEASE$.	has_symptom
+d6f852a42fc5363cce0495d5399c9bf052a493cc	In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, and leukodystrophy.	false
+915028ae9a6188a5a203571d3c7df16792dfd64a	In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of mental retardation, epilepsy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f74cfa981bf448b1ca413182fddd73c8f23d2f64	Canavan's disease is characterized by megalencephaly, @DISEASE$ and early motor and @PHENOTYPICFEATURE$.	has_symptom
+826aea7868933ce0a03e254c922e58c8992c19ff	These pathologies include neurodegeneration, @DISEASE$, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	has_symptom
+c98c56a0fe769f6c36b97a23c2ce0d975fc1f758	These pathologies include neurodegeneration, leukodystrophy, mental retardation, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, @DISEASE$, and osteopetrosis.	false
+ee5b8fc6c7bd3ea4eb26ae25fc8a17f1346c687d	These pathologies include neurodegeneration, leukodystrophy, @DISEASE$, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+6d233ec5b2e6aa37a24fa1e52a80dc26a993e425	These pathologies include neurodegeneration, @DISEASE$, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+cde4a5ac1a5a9a5b1c7238b2892badc8bd62f03d	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, @DISEASE$, kidney stones, male infertility, and osteopetrosis.	false
+6a836159a05b7141b960822bb47f291ff6977aa3	These pathologies include neurodegeneration, leukodystrophy, mental retardation, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, @DISEASE$, kidney stones, male infertility, and osteopetrosis.	false
+c4cc45f1a3c743ca86686e128f213e3463cd62ca	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, @DISEASE$, and osteopetrosis.	false
+cd21fcd8d04913e0de10af067482ceafacd411df	These pathologies include neurodegeneration, leukodystrophy, @DISEASE$, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+4f0a50511922bfe14ebabfaa9cc01fb2b6292fd1	These pathologies include neurodegeneration, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+e5b54821eb2af02b090b740eec3412e3deff8497	These pathologies include neurodegeneration, leukodystrophy, mental retardation, @PHENOTYPICFEATURE$, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+159faac1ef902a12bd9fb134678a1da411612176	These pathologies include neurodegeneration, leukodystrophy, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+9b1eb9a5f25b4aa51127607f20d4019c0dcdd893	Sudanophilic cavitating @DISEASE$ is an unusual disorder of the cerebral white matter, clinically characterized by deafness, @PHENOTYPICFEATURE$, behavioural alterations and lesions of the descending long tracts.	has_symptom
+d272d5669674a20528858c3f9d75cdda05b1848a	Sudanophilic cavitating @DISEASE$ is an unusual disorder of the cerebral white matter, clinically characterized by @PHENOTYPICFEATURE$, mental retardation, behavioural alterations and lesions of the descending long tracts.	false
+5d9231400ce64877bebb653500969e6e6ea5bd4f	Sudanophilic cavitating leukodystrophy is an unusual disorder of the cerebral white matter, clinically characterized by @PHENOTYPICFEATURE$, @DISEASE$, behavioural alterations and lesions of the descending long tracts.	false
+cab5803f8ba96383d8f4a3fd6678e74e72ade2ab	Maternal and paternal PHG, alcohol consumption, presence of chronic disease, educational status, @PHENOTYPICFEATURE$, perceived stress scale (@DISEASE$) score, age, and height were significantly higher in subjects with PHG.	has_symptom
+e006d1ef955103008786098c1d020a882902cd98	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and @DISEASE$ or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and @PHENOTYPICFEATURE$.	has_symptom
+2a7f97f0182da868bb1214ea6c9ec2bc3b69dd8e	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or @DISEASE$ are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and @PHENOTYPICFEATURE$.	has_symptom
+a16e26e9dc07e7c37ed91a43eb8cb983d2242d4f	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and @DISEASE$ or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and brain calcifications.	false
+5a726a2649de69609d6ec3e8c2fb1deab36d2cc8	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and @DISEASE$.	false
+7e03e81c795002e658e2da20bcaa77fe3a942bac	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or @DISEASE$ are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and brain calcifications.	false
+31c2eedd6e15c0b80a131f059d1886615a597779	@DISEASE$, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and brain calcifications.	false
+25b2a7137590efc312c192e67615d29ab7984156	This recommendation applies to asymptomatic women aged 40 years or older who do not have preexisting breast cancer or a previously diagnosed high-risk breast lesion and who are not at high risk for @PHENOTYPICFEATURE$ because of a known underlying genetic mutation (such as a BRCA1 or BRCA2 gene mutation or other @DISEASE$ syndrome) or a history of chest radiation at a young age.	has_symptom
+c561d7abac23e79a7a8060682fb8424a7cc679b2	This recommendation applies to asymptomatic women aged 40 years or older who do not have preexisting @PHENOTYPICFEATURE$ or a previously diagnosed high-risk breast lesion and who are not at high risk for breast cancer because of a known underlying genetic mutation (such as a BRCA1 or BRCA2 gene mutation or other @DISEASE$ syndrome) or a history of chest radiation at a young age.	has_symptom
+c89666e552f2e8230275b6cb2bb2a3edd40561eb	The @DISEASE$ patients with MRI evidence suggestive of ELSTs or a history of hearing loss, @PHENOTYPICFEATURE$, or vertigo underwent additional radiologic and audiologic evaluations.	has_symptom
+f842b08c66eea420944b71e6b7e5badcc80884fd	Recent studies indicate that @DISEASE$ disease-associated ELSTs cause audiovestibular morbidity (hearing loss, @PHENOTYPICFEATURE$, and vertigo) via 3 mechanisms-otic capsule invasion, intralabyrinthine hemorrhage, and endolymphatic hydrops.	has_symptom
+c8555f8a8dbcd6ead03d42ca4d2ebf0a34ef9670	This 44-year-old female @DISEASE$ patient presented with @PHENOTYPICFEATURE$, vertigo, and binaural hearing loss.	has_symptom
+ae65a5adbb7468a8815ad0fbf2c5d56d640a4043	This 44-year-old female von Hippel-Lindau disease patient presented with tinnitus, @PHENOTYPICFEATURE$, and binaural @DISEASE$.	false
+2ff8c8751fd52ba99936954db9c9a1619744bba0	This 44-year-old female von Hippel-Lindau disease patient presented with @DISEASE$, @PHENOTYPICFEATURE$, and binaural hearing loss.	false
+6858304d0a8660188ca59c44a35391205259386a	This 44-year-old female @DISEASE$ patient presented with tinnitus, @PHENOTYPICFEATURE$, and binaural hearing loss.	false
+a3f98fc0f3c9177c72bee514f557b52a06288d1e	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for @DISEASE$ patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or vertigo (41% versus 60%).	has_symptom
+606b9757a2137619ed6500f2c9fff442d3cf22e7	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-@DISEASE$ patients), facial weakness (38% versus 49%), and @PHENOTYPICFEATURE$ or vertigo (41% versus 60%).	has_symptom
+f89292300cdd2b4ff41f1a8e063cc9f4ac8a9f21	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and @DISEASE$ or @PHENOTYPICFEATURE$ (41% versus 60%).	false
+d531b554fcc3bbed57181604ab695db5fda27323	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for @DISEASE$ patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and tinnitus or @PHENOTYPICFEATURE$ (41% versus 60%).	false
+8d79e475b9d4a3ffbf7c53f055ad46b3a6eec6ae	Symptoms consisted of @DISEASE$ (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), facial weakness (38% versus 49%), and tinnitus or @PHENOTYPICFEATURE$ (41% versus 60%).	false
+ce653d1018cdddedd5de028ede5391d828636d2f	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-von Hippel-Lindau disease patients), @DISEASE$ weakness (38% versus 49%), and tinnitus or @PHENOTYPICFEATURE$ (41% versus 60%).	false
+9976d9358b7ed735e82b5f9acef60145c61b1762	Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for VHL patients versus 97% [mean duration, 7.8 yr] for non-@DISEASE$ patients), facial weakness (38% versus 49%), and tinnitus or @PHENOTYPICFEATURE$ (41% versus 60%).	false
+ffb14d13660f96cda9773bb566020497cae58368	The authors present the case of a 33-year-old man with @DISEASE$ disease and a 10-year history of progressive @PHENOTYPICFEATURE$, vertigo, and left-sided hearing loss.	has_symptom
+0e88d4fae983c047f22bf068fd4e4636c95f10dc	The authors present the case of a 33-year-old man with VHL disease and a 10-year history of progressive @DISEASE$, @PHENOTYPICFEATURE$, and left-sided hearing loss.	false
+209175569d413ce30e2281660b72deacee6f51ed	The authors present the case of a 33-year-old man with @DISEASE$ disease and a 10-year history of progressive tinnitus, @PHENOTYPICFEATURE$, and left-sided hearing loss.	false
+2b0ea8474b86481990d6d78b4badd68456b51364	Recently, it has been appreciated that patients with @DISEASE$ may develop endolymphatic sac tumors, which can cause @PHENOTYPICFEATURE$ or deafness.	has_symptom
+4c64fabbfc5be291f714e7337b52280b7eb2d46b	Recently, it has been appreciated that patients with VHL may develop endolymphatic sac tumors, which can cause @DISEASE$ or @PHENOTYPICFEATURE$.	false
+820d705b9bc72c947e5a064c3589ad4336bdab6f	Recently, it has been appreciated that patients with @DISEASE$ may develop endolymphatic sac tumors, which can cause tinnitus or @PHENOTYPICFEATURE$.	false
+f971ab5a212c2e46945c7f76da22ce097cb6348a	Recently, it has been appreciated that patients with VHL may develop @DISEASE$, which can cause tinnitus or @PHENOTYPICFEATURE$.	false
+aea859c90769874bd22a07da6e5da399c974ee2a	The index patient displayed craniofacial dysmorphisms, mild mental retardation and postnatal growth retardation, @PHENOTYPICFEATURE$, mild periventricular @DISEASE$, patent ductus arteriosus, thrombocytopenia, recurrent infections, inguinal hernia, cryptorchidism, pes equinovarus, and hearing deficiencies.	has_symptom
+0742354da81e3e5b378085a0b2c9865bc559ed7f	During the last decade, some reports documented the existence of patients with @DISEASE$ showing additional features characteristic of AHO such as short stature and @PHENOTYPICFEATURE$, previously thought to occur only in other GNAS-associated disorders.	has_symptom
+77ba1a069966df0deb875f43ca70cdc58fea2497	During the last decade, some reports documented the existence of patients with POH showing additional features characteristic of AHO such as @PHENOTYPICFEATURE$ and @DISEASE$, previously thought to occur only in other GNAS-associated disorders.	false
+0881b47253cd287ec0105ed9841c80c9b708b74e	During the last decade, some reports documented the existence of patients with @DISEASE$ showing additional features characteristic of AHO such as @PHENOTYPICFEATURE$ and brachydactyly, previously thought to occur only in other GNAS-associated disorders.	false
+708018f36050318ff618404c7de058e7cdf2b30e	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (@DISEASE$) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as @PHENOTYPICFEATURE$, ectopic ossifications, short stature, mental retardation and endocrine deficiencies due to resistance to the action of different hormones.	has_symptom
+a4dc7b933d444946cc7f2cc5cee3c405b9148a1e	Together with pseudohypoparathyroidism, @DISEASE$ (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short stature, @PHENOTYPICFEATURE$ and endocrine deficiencies due to resistance to the action of different hormones.	false
+2f11b3b6d75cf8493f75eb195a480b53101acc52	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (@DISEASE$) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, @PHENOTYPICFEATURE$, mental retardation and endocrine deficiencies due to resistance to the action of different hormones.	false
+6b20912f56c99dfeea79a9976b57e1aefd66569d	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as @DISEASE$, ectopic ossifications, @PHENOTYPICFEATURE$, mental retardation and endocrine deficiencies due to resistance to the action of different hormones.	false
+53f1b57f682b15a24f98fbd38946be86388fa236	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (@DISEASE$) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short stature, @PHENOTYPICFEATURE$ and endocrine deficiencies due to resistance to the action of different hormones.	false
+4e4aecc84a9bbd58f3321b467241526c843bafbc	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as @DISEASE$, ectopic ossifications, short stature, @PHENOTYPICFEATURE$ and endocrine deficiencies due to resistance to the action of different hormones.	false
+dae0db1ef52383ee0e77986528dbdac1939ee138	Together with pseudohypoparathyroidism, @DISEASE$ (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, @PHENOTYPICFEATURE$, mental retardation and endocrine deficiencies due to resistance to the action of different hormones.	false
+1044d70bd2a1af2b3efdbb94ecbe824c483a3bf8	@DISEASE$, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and @PHENOTYPICFEATURE$.	has_symptom
+eaedc0144b3d463f1fea105a2321200d4bcd76cd	Huriez syndrome, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f120787f4c2bcc44d3628109fae861e5bd32792f	@DISEASE$, also referred to as "sclerotylosis," is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, @PHENOTYPICFEATURE$, and hypoplastic nails.	false
+505ba0cf194b70a3988a9045a8d1c4eac6711434	@DISEASE$ is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma (PPK) and @PHENOTYPICFEATURE$.	has_symptom
+ff1f9e7871f1618daa61a1faf995a073947590fa	A case of @DISEASE$ with absence of @PHENOTYPICFEATURE$ and defective nails has been reported.	has_symptom
+d9cbcfde2b3cff90cc4c1904053dece16820a5fe	Hypohydrotic (Anhidrotic) @DISEASE$ is a rare hereditary genodermatosis characterized by a triad of defects including @PHENOTYPICFEATURE$ hypotrichosis and anomalous dentition.	has_symptom
+9c3175691786b2bfa703e6b3943534c782b175cc	Hypohydrotic (Anhidrotic) Ectodermal dysplasia is a rare hereditary genodermatosis characterized by a triad of defects including @DISEASE$ @PHENOTYPICFEATURE$ and anomalous dentition.	false
+b4446d3f014d3908ab66b79451ccb13ce09a7b5f	Hypohydrotic (Anhidrotic) Ectodermal dysplasia is a rare hereditary @DISEASE$ characterized by a triad of defects including hypohidrosis @PHENOTYPICFEATURE$ and anomalous dentition.	false
+c874559730db7ace8db2190d97fb96f921572a02	Hypohydrotic (Anhidrotic) @DISEASE$ is a rare hereditary genodermatosis characterized by a triad of defects including hypohidrosis @PHENOTYPICFEATURE$ and anomalous dentition.	false
+915eb6b822f1c6884a202c8b418828855838e026	@DISEASE$ with alopecia, onychodysplasia, @PHENOTYPICFEATURE$, keratoderma, abnormal teeth and deafness.	has_symptom
+ed8ffc3f247a8638dfe1b7861e5262cd2a7f4f9f	@DISEASE$ with alopecia, onychodysplasia, hypohidrosis, keratoderma, @PHENOTYPICFEATURE$ and deafness.	false
+a4b5b3e9558245927348314bb73b92a4838c0c45	Ectodermal dysplasia with alopecia, onychodysplasia, @DISEASE$, keratoderma, @PHENOTYPICFEATURE$ and deafness.	false
+07de2079522ed43cae5636d8823eb173f70b8a15	@DISEASE$ with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and @PHENOTYPICFEATURE$.	false
+287d724c56e0bb655f315509a49303faf55f4001	Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, @DISEASE$, abnormal teeth and @PHENOTYPICFEATURE$.	false
+34bb8b4d44b643b3d60d89654ea06d13a6afa80d	Ectodermal dysplasia with alopecia, onychodysplasia, @DISEASE$, keratoderma, abnormal teeth and @PHENOTYPICFEATURE$.	false
+5fcfaf6ce8f14ad1696b8556427a1d53a1858610	Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, @DISEASE$, @PHENOTYPICFEATURE$ and deafness.	false
+a238b5762e7b26f4f582c5b1ace821a20b11921b	An @DISEASE$ of alopecia, onychodysplasia, @PHENOTYPICFEATURE$, hyperkeratosis, deafness and other manifestations.	has_symptom
+1544ebdc644900ae05c18392e0c1063ef4e8d73e	An @DISEASE$ of alopecia, onychodysplasia, hypohidrosis, @PHENOTYPICFEATURE$, deafness and other manifestations.	false
+91a8755c1781700d3a9a0e77db12ec8de2ca03a5	An ectodermal dysplasia syndrome of alopecia, onychodysplasia, @DISEASE$, hyperkeratosis, @PHENOTYPICFEATURE$ and other manifestations.	false
+27300ad9da92536ee95159991dc62e406485d626	An @DISEASE$ of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, @PHENOTYPICFEATURE$ and other manifestations.	false
+2815230e043f919216d77a2d12c2fa944b9c1e9a	An ectodermal dysplasia syndrome of alopecia, onychodysplasia, @DISEASE$, @PHENOTYPICFEATURE$, deafness and other manifestations.	false
+718b7fd9f4e673abbcd8b44c7586b81b62f10c18	The @DISEASE$ manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; @PHENOTYPICFEATURE$; and dysplastic nails.	has_symptom
+5c3613bb917389bf8016dcd95013ecd680973554	The @DISEASE$ manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and @PHENOTYPICFEATURE$.	false
+92a04d76c430622741f95bdcf0c485f1412e475a	The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; @DISEASE$; and @PHENOTYPICFEATURE$.	false
+f139c6a1d24dbaa038752b454f2e5bcc93fc42cb	The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; @DISEASE$; hypohidrosis; and @PHENOTYPICFEATURE$.	false
+c1c1ac45359e712635706c258a8132e911cc95b4	@DISEASE$ presents extrapyramidal motor signs, namely @PHENOTYPICFEATURE$, more frequently than the other subtypes of autosomal dominant cerebellar ataxias.	has_symptom
+21fee0072be1fc83c901fad5d40d32ce8535ca42	The purpose of this study is to explore and compare @PHENOTYPICFEATURE$ and EEG evolution in the various types of genetic @DISEASE$ (GL).	has_symptom
+d5721c4644937607ad5fa846af2e8a53f91bd108	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	has_symptom
+013e71b11ceff1819c56e4afb76d0f6ad25a476c	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	false
+0e1d25e8a321428f3f8325c351c767f170895911	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, @DISEASE$, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+8afc97f7f27e4b7d63e1e3d0c7c3533bf4c3b233	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), @DISEASE$, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+542c5be3be2277ac767c680917c6691b6769b48f	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), @DISEASE$, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+0941f4b978dc4cd1a05039fd204af305224c94bc	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, @DISEASE$, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+9b75e537123b1caafea55ab6c1eaf0c186b27218	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	false
+95e46e4192f4d8e94643f9c680a0f41fd897457a	@DISEASE$ is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+d856fc2dffc73d873e53ead6d9278771f28fcdd2	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @DISEASE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+067b3c21f89094b6984ec4ee0cb15bcd7e4414b2	@DISEASE$ is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+29332bcc0c3bd6b7ab4310f89917cb9eccd192b2	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @DISEASE$, @PHENOTYPICFEATURE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+1e61e5cfdfcdcad47fbf1fca3b6285862d361ea1	Our patient is a male infant aged 15 months with megaloencephaly, @PHENOTYPICFEATURE$, changes of behavior and delayed psychomotor development, with corroborated @DISEASE$ demyelination in the brain, scanned by computed tomography (CT) and magnetic resonance (MR) imaging.	has_symptom
+7136e2b9410868a02d3f59096b7655eb6a4085be	45 patients were referred to the Pediatric Neurology Department of Mofid Children's Hospital in Tehran-Iran from 2010-2014 with a chief complaint of neuro developmental delays, @PHENOTYPICFEATURE$, and neuroimaging findings of @DISEASE$ were included in this study.	has_symptom
+df6ddf1e519ea6bd3c984e591a8c3933fbaff5e8	Degree of @DISEASE$ was not correlated with age, Full Scale IQ, Verbal IQ, spike frequency, seizure frequency, age at @PHENOTYPICFEATURE$ onset, or duration of TLE.	has_symptom
+350633e2768e8485ebbb17a7dde1e691dde3e32d	Degree of @DISEASE$ was not correlated with age, Full Scale IQ, Verbal IQ, spike frequency, @PHENOTYPICFEATURE$ frequency, age at seizure onset, or duration of TLE.	has_symptom
+187a3bb1fcb5561776a44d792019107166d74d57	@PHENOTYPICFEATURE$ and disturbed brain potassium dynamics in the @DISEASE$ megalencephalic leukoencephalopathy with subcortical cysts.	has_symptom
+2e8c24e3f03e242d64eb3f86392df2ebb466a9c4	In this transgenic animal model, mice did not show megalencephaly, @DISEASE$, or @PHENOTYPICFEATURE$ characteristic of Alexander disease with R239H mutation.	has_symptom
+fe60dc7b7ff4939155a748304094f7fad102437d	In other IEMs, @PHENOTYPICFEATURE$ may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal @DISEASE$.	has_symptom
+00435cf949670ef16986d64f263a4a08c4e4e5df	In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, @PHENOTYPICFEATURE$, and upper motor signs in a child with a @DISEASE$ or peroxisomal leukodystrophy.	false
+ae4c16ba2e5c0c4f340d29af3372bbfc3396da0a	In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, @PHENOTYPICFEATURE$, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal @DISEASE$.	false
+8bb57106eeecfbfe742d755427961874f52da11d	In other IEMs, @DISEASE$ may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, @PHENOTYPICFEATURE$, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy.	false
+06ff7d59757c6d8f513c8f4abb836120da8ddbce	Partial seizure was the most common type of @PHENOTYPICFEATURE$ of @DISEASE$ patient complicated with epilepsy, the next is systemic seizure.	has_symptom
+cc2d6e9a87bfa887835f71559bd5f7b9a67d5626	Partial seizure was the most common type of seizure of @DISEASE$ patient complicated with epilepsy, the next is systemic @PHENOTYPICFEATURE$.	has_symptom
+c13350126587cbe9e6a96f68919b2149f0873f3b	Canavan disease is an early onset @DISEASE$ associated with psychomotor retardation, @PHENOTYPICFEATURE$, and premature death.	has_symptom
+2ae878e266204befcc100c607c9088d240f0796f	Mucopolysaccharidosis type VII or @DISEASE$ is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, corneal opacities, @PHENOTYPICFEATURE$, and hydrops fetalis in affected individuals.	has_symptom
+9193f9ecca6a081bf824a0bd3c87a9ccdcfe6dff	@DISEASE$ or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, corneal opacities, @PHENOTYPICFEATURE$, and hydrops fetalis in affected individuals.	has_symptom
+78898cb23523f1282822e24b27ce4d6adb99e503	Mucopolysaccharidosis type VII or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, @PHENOTYPICFEATURE$, @DISEASE$, and hydrops fetalis in affected individuals.	false
+9d0e81afec5e732d5ae83d0185be01c95d2e5ad6	Mucopolysaccharidosis type VII or @DISEASE$ is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, @PHENOTYPICFEATURE$, mental retardation, and hydrops fetalis in affected individuals.	false
+973d9aba1258d4b6af303e484766ed749e01a66b	@DISEASE$ or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, hearing loss, @PHENOTYPICFEATURE$, mental retardation, and hydrops fetalis in affected individuals.	false
+15bcd71fc89baa82088eec091882a3a9cbef9b8c	Mucopolysaccharidosis type VII or Sly syndrome is an autosomal recessive disorder of glycosaminoglycan storage leading to variable clinical symptoms, such as hepatosplenomegaly, bone deformities, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, and hydrops fetalis in affected individuals.	false
+3a40cba62ae06681103ac55df31f14098656a37d	Systemic injection of an adenovirus vector into adult mice resulted in pathological improvements in multiple visceral organs of mice with @DISEASE$; however, no therapeutic efficacy was observed for @PHENOTYPICFEATURE$, skeletal deformities, corneal clouding, and retinal degeneration.	has_symptom
+ea2cfe4fffa20cad020e7b82c2f03ef0c97b2ade	Systemic injection of an adenovirus vector into adult mice resulted in pathological improvements in multiple visceral organs of mice with @DISEASE$; however, no therapeutic efficacy was observed for mental retardation, skeletal deformities, corneal clouding, and @PHENOTYPICFEATURE$.	false
+e2eb53c2fca51efde8d39af504ef95a8ad1a69ee	Systemic injection of an adenovirus vector into adult mice resulted in pathological improvements in multiple visceral organs of mice with mucopolysaccharidosis VII; however, no therapeutic efficacy was observed for @DISEASE$, skeletal deformities, corneal clouding, and @PHENOTYPICFEATURE$.	false
+d9d6e801c82297b50f45a48d6b24e6ab33e71103	@DISEASE$ (MPS VII; Sly syndrome) is one of a group of lysosomal storage diseases that share many clinical features, including @PHENOTYPICFEATURE$ and hearing loss.	has_symptom
+44c513b4e09876d8ed671f628c4b6d7c28bee301	Mucopolysaccharidosis type VII (@DISEASE$) is one of a group of lysosomal storage diseases that share many clinical features, including @PHENOTYPICFEATURE$ and hearing loss.	has_symptom
+2917c806aec7343e0f9497b2bdd62f0b46ecfca8	A @DISEASE$ (GUSB) causes the multisystem progressive degenerative syndrome, mucopolysaccharidosis (MPS) type VII (Sly disease), which includes @PHENOTYPICFEATURE$.	has_symptom
+8dd22e692a43f14df2935ef98e216a05c7aea43a	A new familial adult-onset @DISEASE$ manifesting as @PHENOTYPICFEATURE$ and dementia.	has_symptom
+10178d6ac7935fd87be82ab98f3ad3aac28269f1	We studied a girl who presented with progressive @DISEASE$, syndromic cleft palate, @PHENOTYPICFEATURE$ and retinal dystrophy.	has_symptom
+423d99a7128c1bbec44351acd5681fb42dc6f622	We studied a girl who presented with progressive leukodystrophy, @DISEASE$ @PHENOTYPICFEATURE$, ataxia and retinal dystrophy.	false
+5c15a1e114f83febaa625a26d4e5e5997dc02f15	We studied a girl who presented with progressive leukodystrophy, syndromic @PHENOTYPICFEATURE$, @DISEASE$ and retinal dystrophy.	false
+f21dfbd5e4b4478ae40c93f35b41c62318c5b69a	We studied a girl who presented with progressive @DISEASE$, syndromic @PHENOTYPICFEATURE$, ataxia and retinal dystrophy.	false
+890ba3a81d6b8d1c23198fecb2938c2eef27f61b	We studied a girl who presented with progressive leukodystrophy, syndromic @PHENOTYPICFEATURE$, ataxia and @DISEASE$.	false
+19a3dde5eca3a929fd16665ba6d423e2be1ae0f4	The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by @DISEASE$ and @PHENOTYPICFEATURE$ (43%, each).	has_symptom
+51dcb2604543e02a07bad3b9bf38054b2426cd09	We describe an autosomal recessive childhood-onset @DISEASE$ with @PHENOTYPICFEATURE$ and tremor mapping to a 12.6 Mb interval on chromosome 10q22.3-10q23.31.	has_symptom
+915028ae9a6188a5a203571d3c7df16792dfd64a	In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of mental retardation, epilepsy, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+d90bd5182a28d7dcee9200c8273d005d4217e3cd	In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, and leukodystrophy.	false
+a06031041a0f5623d154025220dbcd3bc6073aab	In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of @PHENOTYPICFEATURE$, epilepsy, ataxia, and @DISEASE$.	false
+d9af65579c893a20bd8d69947481d848866286fc	HDLS (Hereditary Diffuse @DISEASE$ with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and @PHENOTYPICFEATURE$.	has_symptom
+6e0070339aeadc49de1a2101f0ee188d1b20cb99	HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary @DISEASE$ whose main clinical manifestations include parkinsonism, spasticity, and @PHENOTYPICFEATURE$.	has_symptom
+4cdf49cc82cfd9710f03e2bfd5b21e2c27991abe	HDLS (Hereditary Diffuse @DISEASE$ with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and ataxia.	false
+aa0510db1b1aff25d3fcdd6d5a3c7d06956d8652	HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary @DISEASE$ whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and ataxia.	false
+991abf21271856d9981b75954782fc1eb0008257	HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+11e617ed1ede6c5d9bbd0a4b00b84b8ebc42567f	@DISEASE$ (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and ataxia.	false
+753ce2db6b553c4a39ee6f1464a003da0e119c49	The objective of this study was to characterize clinically and genetically a new form of childhood-onset @DISEASE$ with @PHENOTYPICFEATURE$ and tremor.	has_symptom
+876296dc84c91aa5e3e13b451b562fc73e70aaf8	Autosomal dominant childhood onset slowly progressive @DISEASE$--a Japanese family with spastic paraparesis, @PHENOTYPICFEATURE$, mental deterioration, and skeletal abnormality.	has_symptom
+d2a207c74ec003ef8ca7e94fd8baa7fff6bbe8a8	Autosomal dominant childhood onset slowly progressive leukodystrophy--a Japanese family with spastic paraparesis, @DISEASE$, mental deterioration, and @PHENOTYPICFEATURE$.	false
+0f763a2af28dcad13055faf21e2553310567524f	Autosomal dominant childhood onset slowly progressive leukodystrophy--a Japanese family with spastic paraparesis, @DISEASE$, @PHENOTYPICFEATURE$, and skeletal abnormality.	false
+8858f3564e531b992799dffc88db448a8549a0e3	Autosomal dominant childhood onset slowly progressive @DISEASE$--a Japanese family with spastic paraparesis, ataxia, @PHENOTYPICFEATURE$, and skeletal abnormality.	false
+8a47becdc14dbfa53201760ec03bb3c6efcaf5ba	Autosomal dominant childhood onset slowly progressive @DISEASE$--a Japanese family with spastic paraparesis, ataxia, mental deterioration, and @PHENOTYPICFEATURE$.	false
+80609657c3753b4867e4bb460e7a8c0d0dfdc052	Childhood @PHENOTYPICFEATURE$ with CNS hypomyelination/vanishing white matter disease--a common @DISEASE$ caused by abnormal control of protein synthesis.	has_symptom
+33461e6b956df34b318046163177464701a62d5c	Tremor-@PHENOTYPICFEATURE$ with central hypomyelination (TACH) @DISEASE$ maps to chromosome 10q22.3-10q23.31.	has_symptom
+86e6490eb6cc10bcc4e6bb2eb1f4807eb8184bb7	The essential pathology, i.e., @PHENOTYPICFEATURE$ and eosinophilic infiltration of the gut wall, ascites, and regional lymphadenopathy, was identical to that seen in @DISEASE$.	has_symptom
+17d2f3a9bddd1eb5afa904beb6feba07c2f6ecd8	@DISEASE$, an idiopathic inflammation of the alimentary canal, is characterized by infiltration of the intestinal wall by eosinophils, massive submucosal @PHENOTYPICFEATURE$, and peripheral eosinophilia.	has_symptom
+ea13e57e40253b04c4e0857b9711da2f9de40625	@DISEASE$ is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, @PHENOTYPICFEATURE$, hepatosplenomegaly, anemia and recurrent febrile crises.	has_symptom
+d5a061da262e13ed363266d209c2f2152ceeaef1	Patients with @DISEASE$ also have intrauterine growth retardation, congenital defects (cataracts, shortened limbs, and dysmorphic craniofacial features), neurological disease, and @PHENOTYPICFEATURE$.	has_symptom
+0e0fb5af4a94516583c59c1172f70f7528d956aa	Patients with MVA also have intrauterine growth retardation, @DISEASE$ (@PHENOTYPICFEATURE$, shortened limbs, and dysmorphic craniofacial features), neurological disease, and failure to thrive.	false
+c1be84309329c57c646177b26feb66c263b328cd	Patients with MVA also have @DISEASE$, congenital defects (@PHENOTYPICFEATURE$, shortened limbs, and dysmorphic craniofacial features), neurological disease, and failure to thrive.	false
+f627daad023db8a7f73d2e9b9d1d2d7d3aab11b8	Patients with MVA also have intrauterine growth retardation, congenital defects (@PHENOTYPICFEATURE$, shortened limbs, and dysmorphic craniofacial features), @DISEASE$, and failure to thrive.	false
+826eadf02307d10433d60d251864e2f3575a38c5	Patients with MVA also have intrauterine growth retardation, congenital defects (@PHENOTYPICFEATURE$, shortened limbs, and dysmorphic craniofacial features), neurological disease, and @DISEASE$.	false
+72f38e46223e7f7ecaf846702bfac717ab173fed	Patients with @DISEASE$ also have intrauterine growth retardation, congenital defects (@PHENOTYPICFEATURE$, shortened limbs, and dysmorphic craniofacial features), neurological disease, and failure to thrive.	false
+f7a8a59c1fb8a656a70ce07083e4c2480c5ff86e	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	has_symptom
+cbe515acc86fe92e15c7e7a76167247b59bb62bd	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @DISEASE$, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+c9a28fef6c4ba396efe89469065ec35e98fbcc05	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+0c6210b294c6f0aba952a32072f8ed793008526a	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+635bdbf2727b1ac65ba5333d39ef892cd05c80a6	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @DISEASE$, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+44ef2a7125a6f7b0ebab436188cf1ab7ead374a7	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+d549cd45b90b3c73925588dd314b87f2a0c09d55	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @DISEASE$, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+2aa0752e0dbc02e77ca3bc26576a024d1bcfa7a9	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+632e125063a4bc896aadc1701ac06787d791f9e5	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+2d1ecd06e80f6da3261cdf4ba1fb4829f7644665	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+306c304248a7db81c96454e02e72e0c90b0fc6ff	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+2833b99c53410f0d5d8ca24c7ac23fac4615277a	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @DISEASE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+730adc4df331663a08df1c6422b0fa2f701c2fc8	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+90feeba5edf0a5d7356e31e3da62d6d1da8235c0	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+071c298d8f361d393db88ced1412b478c488a571	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+76f4f66049285e6568b160d2876d5220f5ee1d9c	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+d8bf5fc716386b71326d31abf2b9e91e70c9d807	The @DISEASE$ (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, @PHENOTYPICFEATURE$, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations.	has_symptom
+a3ff1427de4dd6a0c486a3d1f5389d7f702b99b6	The Smith-Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, @DISEASE$, @PHENOTYPICFEATURE$, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations.	false
+c92687ebf50319465fc1a309a57193a032ff5e50	The @DISEASE$ (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, @PHENOTYPICFEATURE$, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations.	false
+75e14890459b33677b43a66f0325a80f85f8584e	We recommend discarding @DISEASE$ in women who have not been done a neonatal screening and/or have abortions, children with microcephaly, cardiac or @PHENOTYPICFEATURE$.	has_symptom
+13904c6052337190de32ef2353d42b28567e0742	We recommend discarding Phenylketonuria in women who have not been done a neonatal screening and/or have abortions, children with @PHENOTYPICFEATURE$, cardiac or @DISEASE$.	false
+13e972720d55e08d8b03c6f475a53510555279ae	We recommend discarding @DISEASE$ in women who have not been done a neonatal screening and/or have abortions, children with @PHENOTYPICFEATURE$, cardiac or renal malformations.	false
+eaad03ee7d94a420b89a01d4ab397706f2aa10ba	The molecular pathways underlying @DISEASE$ and heterotaxy are being discovered at a rapid pace, and there is increasing recognition of the overlap between these two categories of laterality disorders and their relationship to isolated @PHENOTYPICFEATURE$.	has_symptom
+16947ccf8f5c00ca3b166b7a729126d2cca2efeb	Ion channel dysfunction contributes to the pathogenesis of various pulmonary fluid disorders including high-altitude @PHENOTYPICFEATURE$ (HAPE) and @DISEASE$ (RDS).	has_symptom
+2043da407fc9c48e366064c4df52960fdd243bcc	The primary outcomes were a composite of adverse maternal outcomes (thromboembolic disease, @PHENOTYPICFEATURE$, eclampsia, HELLP syndrome, placental abruption, or maternal death), and @DISEASE$, both analysed by intention-to-treat.	has_symptom
+b0bf44a41d8c2e7d6b976d37965c0d18565a070c	The patient showed agenesis of the corpus callosum, @DISEASE$, and lactic acidosis but no @PHENOTYPICFEATURE$, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13	has_symptom
+33bbe1b21604682c8d42f8ab9ff8854bcc6b6e71	The patient showed @PHENOTYPICFEATURE$, histiocytoid cardiomyopathy, and lactic acidosis but no @DISEASE$, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13	false
+cd9c85efface7f23e901cbfab36485efcf0c68e4	The patient showed @PHENOTYPICFEATURE$, @DISEASE$, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13	false
+bf2e855c6700c9d00844eec2a7191830a78d8102	NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the "supernumerary" group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in the X-linked nuclear-encoded NDUFB11 gene have recently been discovered in association with two distinct phenotypes, i.e. @PHENOTYPICFEATURE$ with linear skin defects and @DISEASE$.	has_symptom
+6e5021b34152201f22640ed2e05ac7230e1117c1	Female infant with @DISEASE$ and @PHENOTYPICFEATURE$ with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?	has_symptom
+9b64ee9849963b3805233edc68703839e1c7dbf6	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	has_symptom
+8d637a8340699ce950d0d8f8ade1a098ccd683db	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+81f51c614ea3e659838caa37b5a926a813ff27b7	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+b495dc4fab02abf5e473b57741237c21c0f48471	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+f82f69506a67648e3b613f5a3a01bceafd414075	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+437eddff46fba243a6148848192c935639edec5a	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+a5bf42372ce85c1336377165fab0f4894cf800fb	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+79174de3cc0bf5d5818deea841cc2bfffbdc26dc	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+5dbc6be9bda376df35a78e7254f0cad2afd3c08c	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and @DISEASE$.	false
+5af7d213aa09393a0011959318fad891d33b95ff	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	has_symptom
+77d09409243d6fbefcd47fda344b74bbbf3a3da8	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+1e5618379d2f90b1d040b31a90f42be4ceea6f8e	Two unrelated patients with @PHENOTYPICFEATURE$, @DISEASE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+1d740519847ee4a4c6f7cf0b9a071b018950a52d	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	false
+bc69ddac1fc985e89cf390b7fc59856940399db9	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+ed0d55e9f89cf79c43b449a55bcf5fd9e7daa7d9	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a @DISEASE$ (Lhermitte-Duclos disease).	false
+7be5cdf97b699d15f4057694c7d308f575ec4bfb	Two unrelated patients with macrocephaly, @DISEASE$, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+5d64bef598e4c0031426af8ea764a6d8a5bc5a13	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, and autism.	has_symptom
+b38bc213dc2701fa5ceeb2b430b5a72cd1465c0f	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2eeaee7aac6ace4a635045b6126d3a421e6345f1	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, Lhermitte-Duclos disease, and autism.	false
+db5a69ea7332d640e1e7f6972f12832b52753df5	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @DISEASE$, Lhermitte-Duclos disease, and @PHENOTYPICFEATURE$.	false
+41c66c5d37502306319b45efa471e47e6e2711aa	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, @DISEASE$, and autism.	false
+4ffe7bbd5038fb9e28a83b078dce4d9cbb4b3633	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and @PHENOTYPICFEATURE$.	false
+bff328e29a3861c6941b37201353598c517f3ce8	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, @DISEASE$, Lhermitte-Duclos disease, and autism.	false
+2b1944b8ab5072dea9b35aa7ec1f6bd84e3cfc6c	Deletion of Pten in mouse brain causes @PHENOTYPICFEATURE$, ataxia and defects in soma size resembling @DISEASE$.	has_symptom
+5439cfb9f8b5832d846755577b31152b0c23377a	Deletion of Pten in mouse brain causes @DISEASE$, @PHENOTYPICFEATURE$ and defects in soma size resembling Lhermitte-Duclos disease.	false
+5b5b342a5572e087dca6f985bc604447e80cd66a	Deletion of Pten in mouse brain causes seizures, @PHENOTYPICFEATURE$ and defects in soma size resembling @DISEASE$.	false
+33e9034e441f961c23a8d8dc77b4b0c6122ad794	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	has_symptom
+b7d1a6f116e7cf8fd504f955addbc15729436964	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+1b924bceef3ca283b1682843a53c63541bc0391f	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, @DISEASE$, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+b46d632a7b72bc635a22723c94dd627972f9eb95	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+250bf9a36d5d6ac5c438c3e54785aa6504a86665	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @DISEASE$, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+5a2a389451469c27a6e5b1e6b56bdba31cc3f7ea	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+aca1759942408020104b3543116734c76520e399	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+0c6ddd029220a90bd40d9cfefc9f558180f6e9c1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	has_symptom
+cf12c6e942d83c55436d1afd357eb07b13de39d7	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, @DISEASE$ and autism, in addition to cancer predisposition.	false
+2141f2174d207400e37dcf08a90ab4d827aba38e	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+c62a128bbf63f7f29bc095f2e26f13e362ba4758	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+4bc69c2a7ca718490b2d5fc68192491fef78cfd3	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @DISEASE$ and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+ce9e2b1f72a7428d59381618323b30c7d2e16a20	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to @DISEASE$ predisposition.	false
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+bbf7dc61a70bbd87cc1b8cdcfa46ccf8e430f642	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to @DISEASE$ predisposition.	false
+3fe84be3687a0c679caa85e0caa6f58b0f603e99	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+8d117851fdd81d29481ffa30020aa2a2efe940f5	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+bc959c5815d5f0da03df276dfa7b39be76d04620	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @DISEASE$ and autism, in addition to cancer predisposition.	false
+b22897e880bbdd50ace23dc91daeb02d58864182	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to @DISEASE$ predisposition.	false
+0a75daac10049b1d4cc044065cb0f29a355d6baa	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+f3f6fa37579f9ca7f9296f4cb208220b853fe657	The aim of this study is to describe a case of @DISEASE$ (LDD), which is an extremely rare cause of @PHENOTYPICFEATURE$.	has_symptom
+4826cb70562bb111cc89d49f07d35ddbfaed2a14	Particular attention is placed in one of the cases, that of a young woman with a short clinical history of episodic symptoms of intracranial hypertension, dizziness and @PHENOTYPICFEATURE$, with a concomitant frontal meningioma and in the general context of a multiple hamartoma syndrome (@DISEASE$).	has_symptom
+5381e17bf3eeebb3ae2ffc6b6e9ac936462f5ad7	Particular attention is placed in one of the cases, that of a young woman with a short clinical history of episodic symptoms of intracranial hypertension, dizziness and @PHENOTYPICFEATURE$, with a concomitant frontal meningioma and in the general context of a @DISEASE$ (Cowden disease).	has_symptom
+861e467816def05a9c2b2dece93fad40435a8259	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, mental retardation, and self-limited seizure disorder.	has_symptom
+d7b72a54ecc422cf96b28278dfd4fb2daa03d581	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @DISEASE$, @PHENOTYPICFEATURE$, and self-limited seizure disorder.	false
+ba369e86823aeeb00e9826de3a46f2b9b5ad6ad2	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, @PHENOTYPICFEATURE$, and self-limited seizure disorder.	false
+6926e607c16813b0fabcc5f8c63da29e4e1009ec	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, @PHENOTYPICFEATURE$, and self-limited @DISEASE$.	false
+5b5b342a5572e087dca6f985bc604447e80cd66a	Deletion of Pten in mouse brain causes seizures, @PHENOTYPICFEATURE$ and defects in soma size resembling @DISEASE$.	has_symptom
+d39879bafc5d59d19398072493c83863dd646206	Deletion of Pten in mouse brain causes @PHENOTYPICFEATURE$, @DISEASE$ and defects in soma size resembling Lhermitte-Duclos disease.	false
+2b1944b8ab5072dea9b35aa7ec1f6bd84e3cfc6c	Deletion of Pten in mouse brain causes @PHENOTYPICFEATURE$, ataxia and defects in soma size resembling @DISEASE$.	false
+b7d1a6f116e7cf8fd504f955addbc15729436964	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	has_symptom
+f842b6a52139b406076de437b2251698aca8ac50	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, @DISEASE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+33e9034e441f961c23a8d8dc77b4b0c6122ad794	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+b46d632a7b72bc635a22723c94dd627972f9eb95	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+7a0a73a64ea47f7b1b9b310c2ec0edfc1e0cbfa8	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, @DISEASE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+5a2a389451469c27a6e5b1e6b56bdba31cc3f7ea	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+4c40b73523ee3674330a624d33cc91c25a4a8574	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+0a75daac10049b1d4cc044065cb0f29a355d6baa	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	has_symptom
+7fabc9b77fe4a1361925710d880c4d68bdc3366d	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to @DISEASE$ predisposition.	false
+2141f2174d207400e37dcf08a90ab4d827aba38e	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+eca21f3670ea64c614377b640b80c9421ceb4582	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @DISEASE$, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+ce9e2b1f72a7428d59381618323b30c7d2e16a20	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to @DISEASE$ predisposition.	false
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+1407dce2fc17ddbf3a8464c86b72764b854a8bca	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @DISEASE$, seizures and autism, in addition to cancer predisposition.	false
+e40baf17e8885229cee36bf6f3097af1ef6cc7d1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+bbf7dc61a70bbd87cc1b8cdcfa46ccf8e430f642	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to @DISEASE$ predisposition.	false
+3fe84be3687a0c679caa85e0caa6f58b0f603e99	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+8d117851fdd81d29481ffa30020aa2a2efe940f5	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+0c6ddd029220a90bd40d9cfefc9f558180f6e9c1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+b09e2de6182bc6fe1729d5d6e1f4578dc4ea58a5	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @DISEASE$, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+487d4789a496e77d867b1da6539264babb87674a	@DISEASE$ with Lhermitte- Duclos disease presenting as @PHENOTYPICFEATURE$.	has_symptom
+537fbff6a36ed8e392f5dbc0386c1e540467321c	Cowden syndrome with @DISEASE$ presenting as @PHENOTYPICFEATURE$.	has_symptom
+d484a175a059f77c500c76e4956261803b6fe005	@DISEASE$ (LDD) cosegregates with a subset of CD families and is associated with macrocephaly, @PHENOTYPICFEATURE$ and dysplastic cerebellar gangliocytomatosis.	has_symptom
+0da092b03fb945715d6074d8289e429ce77def30	Lhermitte-Duclos disease (@DISEASE$) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, ataxia and dysplastic cerebellar gangliocytomatosis.	false
+14495f484719df8e59a571c80b8c840f936df165	Lhermitte-Duclos disease (LDD) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, @DISEASE$ and dysplastic cerebellar gangliocytomatosis.	false
+4ba6f25e32316d50f16bd77c94956b5a5b2b5cfc	@DISEASE$ (LDD) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, ataxia and dysplastic cerebellar gangliocytomatosis.	false
+daf81fc6ddd5696008cefcbc873822d4008fcfd9	Hypertension and brachydactyly syndrome (HTNB), also called @DISEASE$, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a @PHENOTYPICFEATURE$, brachydactyly, and death from stroke before the age of 50 years when untreated.	has_symptom
+9790c6f07c7f288afc2499f7de6399b54fd99977	Hypertension and @PHENOTYPICFEATURE$ (HTNB), also called @DISEASE$, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a short stature, brachydactyly, and death from stroke before the age of 50 years when untreated.	false
+603094d4faa03de24eca37017aa7bd47e9c07071	Hypertension and brachydactyly syndrome (HTNB), also called @DISEASE$, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a short stature, @PHENOTYPICFEATURE$, and death from stroke before the age of 50 years when untreated.	false
+db3388897f8bee2f42fe54db01c6c06182a6c788	Hypertension and @PHENOTYPICFEATURE$ (HTNB), also called Bilginturan syndrome, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a @DISEASE$, brachydactyly, and death from stroke before the age of 50 years when untreated.	false
+558f134d3ea1163d15616d432dd56b2c82d6e0f1	Hypertension and brachydactyly syndrome (HTNB), also called Bilginturan syndrome, is a rare autosomal dominant disorder characterized by severe salt-independent hypertension, a @DISEASE$, @PHENOTYPICFEATURE$, and death from stroke before the age of 50 years when untreated.	false
+ced37c62cb5011b86070ed3a5d67c74ff345ffd7	This review highlights recent advances in the localization of genes responsible for selected inherited disorders of @PHENOTYPICFEATURE$ including Piebaldism, Waardenburg's syndrome, @DISEASE$, as well as oculocutaneous and ocular albinism.	has_symptom
+c6784800c64131af7c64e3feb8d26c55df8c585a	A hypotonic newborn or infant with pale skin and sparse, friable, @PHENOTYPICFEATURE$, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of @DISEASE$.	has_symptom
+67d439962ea917d955e03da26497d05748e12dfa	Congenital @PHENOTYPICFEATURE$ can be restricted to the skin as in piebaldism or they represent a systemic disease as in @DISEASE$ or phenylketonuria.	has_symptom
+3c3a0bc77058e44740f16f9be8fdbcfc323a7743	karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, @PHENOTYPICFEATURE$, sparse scalp hair, and profound mental retardation characteristic of @DISEASE$.	has_symptom
+7ccd823a99e32eb34949f682886d458f5b941efa	karyotype presented with skin redundancy, especially in the neck, prominent occiput and @PHENOTYPICFEATURE$, and later developed hypotonia, @DISEASE$, sparse scalp hair, and profound mental retardation characteristic of Menkes disease.	false
+af41f488fdb5838349f136a82ed9a451191a2ed0	karyotype presented with skin redundancy, especially in the neck, prominent occiput and @PHENOTYPICFEATURE$, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of @DISEASE$.	false
+0d45d51d4a44c2b2d6af6ecf993db87b5f683991	@DISEASE$ is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, @PHENOTYPICFEATURE$ sparse hair and connective tissue abnormalities.	has_symptom
+3836e99a5599445a908e915914952809574ca51b	Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, @PHENOTYPICFEATURE$, @DISEASE$ sparse hair and connective tissue abnormalities.	false
+c1fd10f8cee09f3c012624c299e2cd752e8cdf50	@DISEASE$ is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, @PHENOTYPICFEATURE$, hypopigmented sparse hair and connective tissue abnormalities.	false
+3748d177905acf56fac83f97cee3df5dd9012c36	Menkes disease is an X-linked @DISEASE$ characterized by early onset of cerebral and cerebellar neurodegeneration, @PHENOTYPICFEATURE$, hypopigmented sparse hair and connective tissue abnormalities.	false
+fe3507da848984b68f8b06cde942bbf42d8d18fe	@DISEASE$: report of a case and determination of eumelanin and pheomelanin in @PHENOTYPICFEATURE$ hair.	has_symptom
+43480668a46ffb77cbbefd6e7d039ff6f4cb955e	This patient resembles seven previously reported patients with the @DISEASE$, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and @PHENOTYPICFEATURE$.	has_symptom
+4b703451a2fa57f148f35472043cf100c4fafc3e	While infections dominate in the young, system diseases like @DISEASE$ and polymyalgia rheumatica, malignancy and drug @PHENOTYPICFEATURE$ are common causes in the elderly.	has_symptom
+d844664fe1cfee34460d3f4a0bacbc7b3f77e0d5	We report the case of a 77-year-old woman who presented with fatigue, weight loss, @PHENOTYPICFEATURE$, neck pain, jaw claudication and cough, diagnosed with @DISEASE$.	has_symptom
+4d9e6e46eaca1344f0735e1a5f74b4685395c385	We report the case of a 77-year-old woman who presented with fatigue, @PHENOTYPICFEATURE$, fever, neck pain, jaw claudication and cough, diagnosed with @DISEASE$.	false
+88055ba2745309b3bdc62b8e613ff71b801f8d52	We report the case of a 77-year-old woman who presented with fatigue, @PHENOTYPICFEATURE$, @DISEASE$, neck pain, jaw claudication and cough, diagnosed with giant cell arteritis.	false
+dd88d52a12d3978c002fef61ff5e31d776e7d0c5	The authors describe an atypical case of a patient having @DISEASE$ presenting only with @PHENOTYPICFEATURE$, diagnosed by positron emission tomography and subsequently confirmed by temporal artery biopsy.	has_symptom
+e679b3af1c63b40536b16b739cda9f00c9a2480a	We report the case of 63 year-old man with @DISEASE$ diagnosed 2 months before, who was hospitalised for @PHENOTYPICFEATURE$, deterioration in general health, cough and hemoptysis.	has_symptom
+d2317f778cca1f2ad4f9efc9776b82f12f6329a7	@DISEASE$ (GCA) is a chronic vasculitis that typically presents with headache, @PHENOTYPICFEATURE$ and polymyalgia although atypical presentations are known.	has_symptom
+9a604d6b594504886bdc1f5c8e593f0b16b6bb4b	@DISEASE$ (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability, hearing problems, @PHENOTYPICFEATURE$, brain calcification, and the ossification of ear cartilage.	has_symptom
+19d1e9d4fd780f5edb87172c233833252e56d0dd	@DISEASE$ (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of @PHENOTYPICFEATURE$, hearing problems, cataracts, brain calcification, and the ossification of ear cartilage.	false
+599eeb6da602a135dc01a5b9233074e5ed35f854	Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of @PHENOTYPICFEATURE$, hearing problems, @DISEASE$, brain calcification, and the ossification of ear cartilage.	false
+3831c09280123988a28effe61cf2621a2720547c	@DISEASE$ is a rare inherited disease characterized clinically by haematuria, @PHENOTYPICFEATURE$ and deafness, and ultrastructurally by a lamellated glomerular basement membrane (GBM).	has_symptom
+1a0999a2c6df905956895c48fe68fdd433ef3004	Autosomal dominant Alport syndrome is a rare @DISEASE$ characterized clinically by haematuria, renal failure and @PHENOTYPICFEATURE$, and ultrastructurally by a lamellated glomerular basement membrane (GBM).	false
+cc1e0b7bb4b7cc0eb270c45a9964598f8a7cc38c	Autosomal dominant Alport syndrome is a rare inherited disease characterized clinically by haematuria, @DISEASE$ and @PHENOTYPICFEATURE$, and ultrastructurally by a lamellated glomerular basement membrane (GBM).	false
+89eee82c28ca5dc2a0c9edbcd84110fd2b4ae57a	@DISEASE$ is a rare inherited disease characterized clinically by haematuria, renal failure and @PHENOTYPICFEATURE$, and ultrastructurally by a lamellated glomerular basement membrane (GBM).	false
+ae0d8309eff53f6791497a2c9c617987d20ac12f	These data indicate @DISEASE$ as a disease with a low risk of ocular and hearing anomalies but with a significant risk to develop @PHENOTYPICFEATURE$ although at an older age than the X-linked form.	has_symptom
+2063fcc6c7d613f1e0931a772d0e2c4687ed59bd	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of @DISEASE$. The most common symptom is a deafness, but it can also be revealed by a tinnitus, a @PHENOTYPICFEATURE$, a facial nerve paralysis or headache.	has_symptom
+176dc008e9a7118221d29a7a3cbb90e5407d2df6	In this report, we present five cases of @DISEASE$ in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a @PHENOTYPICFEATURE$, but it can also be revealed by a tinnitus, a vertigo, a facial nerve paralysis or headache.	false
+09523ccc2ce222a28c3a4f8955a24761dab35352	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of @DISEASE$. The most common symptom is a @PHENOTYPICFEATURE$, but it can also be revealed by a tinnitus, a vertigo, a facial nerve paralysis or headache.	false
+66c87b6a3424970289bed9ceb976595b6cfba2c0	In this report, we present five cases of @DISEASE$ in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a deafness, but it can also be revealed by a @PHENOTYPICFEATURE$, a vertigo, a facial nerve paralysis or headache.	false
+811bd10524bf052917aaa6cec97436022d9cc722	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a deafness, but it can also be revealed by a @PHENOTYPICFEATURE$, a @DISEASE$, a facial nerve paralysis or headache.	false
+13d2206ba081e62b514d64b79989429aa3de7d02	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of @DISEASE$. The most common symptom is a deafness, but it can also be revealed by a @PHENOTYPICFEATURE$, a vertigo, a facial nerve paralysis or headache.	false
+db2b7861b5058b4dd437f8bf907c0f3cae603245	In this report, we present five cases of acoustic neuroma in children; one of them concern a case of neurofibromatosis 2. The most common symptom is a @PHENOTYPICFEATURE$, but it can also be revealed by a tinnitus, a @DISEASE$, a facial nerve paralysis or headache.	false
+5c69e3b2568c7c63bfdc4dfd580d73c67967de24	We describe a rare case of meningeal carcinomatosis (MC) in a 66-year-old man who presented with bilateral deafness and @PHENOTYPICFEATURE$, initially presumed to be @DISEASE$.	has_symptom
+08ba5411fce7c8354b74712e4a66ec2f3c3e5c56	We describe a rare case of meningeal carcinomatosis (MC) in a 66-year-old man who presented with bilateral @PHENOTYPICFEATURE$ and vertigo, initially presumed to be @DISEASE$.	false
+61ac56f6a9d8b3f81401aabed771b66916c0b6f7	We describe a rare case of meningeal carcinomatosis (MC) in a 66-year-old man who presented with bilateral @PHENOTYPICFEATURE$ and @DISEASE$, initially presumed to be neurofibromatosis type-2.	false
+0ff9ae04a68ca803a94e57f91eb92ff42dc103e3	Blepharophimosis, @PHENOTYPICFEATURE$ and mental retardation: further delineation of @DISEASE$.	has_symptom
+e1589463597647364710c92ff7872ace9b0b303b	Blepharophimosis, @DISEASE$ and @PHENOTYPICFEATURE$: further delineation of Ohdo syndrome.	false
+4b2c148b9f4e38526583859b25c40fbd5b9d3922	Blepharophimosis, ptosis and @PHENOTYPICFEATURE$: further delineation of @DISEASE$.	false
+56f163f6e8541d4a81aff9b894aaaeb09a47521e	A mentally retarded girl with congenital blepharophimosis, @PHENOTYPICFEATURE$, abnormal teeth and other features consistent with @DISEASE$ is reported.	has_symptom
+e235a769d0f2223d964a127f518f0613d35684f0	A @PHENOTYPICFEATURE$ girl with congenital @DISEASE$, ptosis, abnormal teeth and other features consistent with Ohdo syndrome is reported.	false
+71eb2717edccc0e5c8e34b36aba225cbbe16de15	A @PHENOTYPICFEATURE$ girl with congenital blepharophimosis, ptosis, abnormal teeth and other features consistent with @DISEASE$ is reported.	false
+549760da4a9f7e8b28fde059dc91ae35b7687735	A @PHENOTYPICFEATURE$ girl with congenital blepharophimosis, @DISEASE$, abnormal teeth and other features consistent with Ohdo syndrome is reported.	false
+fb17274826ca85796f84ab350db7a6dd0bb42757	A mentally retarded girl with congenital blepharophimosis, @DISEASE$, @PHENOTYPICFEATURE$ and other features consistent with Ohdo syndrome is reported.	false
+8b032e13def3dd347931c049ebeb76443a504045	A mentally retarded girl with congenital blepharophimosis, ptosis, @PHENOTYPICFEATURE$ and other features consistent with @DISEASE$ is reported.	false
+b23ab8d5e1405f5fdb7b068cd3f9484a1aece198	A mentally retarded girl with congenital @DISEASE$, ptosis, @PHENOTYPICFEATURE$ and other features consistent with Ohdo syndrome is reported.	false
+7b4cba9867c2358b42511c680a430fc522ed2b01	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, hearing impairment and intellectual disability.	has_symptom
+8541fb094f45948e6170bc16039b060bdf8f4773	Ohdo syndrome (MIM 249620) is a multiple @DISEASE$ characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and @PHENOTYPICFEATURE$.	false
+de5fc5f6bad3cb8c90fa74bbe80b871de15eec28	Ohdo syndrome (MIM 249620) is a multiple @DISEASE$ characterized by blepharophimosis, ptosis, dental hypoplasia, @PHENOTYPICFEATURE$ and intellectual disability.	false
+207deac6670e64a98f899b30469a92b1503e7cb1	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and @PHENOTYPICFEATURE$.	false
+f2aed1df32e2a295b3da1637f6c00e72d630a731	Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @DISEASE$, dental hypoplasia, @PHENOTYPICFEATURE$ and intellectual disability.	false
+e0dba5506da6c1725191410f35069c9ad8609fae	Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @DISEASE$, dental hypoplasia, hearing impairment and @PHENOTYPICFEATURE$.	false
+f1bf71c42583a710b6b673de6759407391379772	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, @PHENOTYPICFEATURE$ and intellectual disability.	false
+15ff06a5e96022c1874167d3c0b11e9181e47191	In this report we describe a 36 year old woman with @PHENOTYPICFEATURE$, microcephaly, several dysmorphisms, @DISEASE$ and premature ovarian failure.	has_symptom
+077a5e7ec0dcc028adc30416b9409bb8a13215fd	In this report we describe a 36 year old woman with short stature, @PHENOTYPICFEATURE$, several dysmorphisms, @DISEASE$ and premature ovarian failure.	false
+3cd998692fb742ac6f5de2095a896834f832cf3e	In this report we describe a 36 year old woman with @DISEASE$, @PHENOTYPICFEATURE$, several dysmorphisms, congenital hypothyroidism and premature ovarian failure.	false
+530a213848d6f2bcba91ab9a7c1117d0a8198d56	In this report we describe a 36 year old woman with short stature, @PHENOTYPICFEATURE$, several dysmorphisms, congenital hypothyroidism and @DISEASE$.	false
+5f0f01267083d9cc3f1340fd9b5e9210955a6b8c	At age 1? years, pediatric follow-ups revealed normal psychomotor development, normal body weight, @PHENOTYPICFEATURE$, @DISEASE$, hearing impairment and hypospadias in the neonate, and the peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes.	has_symptom
+b9f87f6122cd8a091758462d8ca2e1844b3d5d28	At age 1? years, pediatric follow-ups revealed normal psychomotor development, normal body weight, short stature, congenital hypothyroidism, @PHENOTYPICFEATURE$ and @DISEASE$ in the neonate, and the peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes.	false
+de9185d0c6167e405419717b00b2a9ea5983d3ea	At age 1? years, pediatric follow-ups revealed normal psychomotor development, normal body weight, @DISEASE$, congenital hypothyroidism, @PHENOTYPICFEATURE$ and hypospadias in the neonate, and the peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes.	false
+e56f1aa441a1d2fedcfb2162a2a5c63efecdeb43	At age 1? years, pediatric follow-ups revealed normal psychomotor development, normal body weight, short stature, @DISEASE$, @PHENOTYPICFEATURE$ and hypospadias in the neonate, and the peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes.	false
+a3f0a49f6fb03ed04440dde046528cb4e8c7ef64	Without treatment, @DISEASE$ leads to severe intellectual deficit and @PHENOTYPICFEATURE$.	has_symptom
+286c544c7a46a0dc6295fc610bf369044f9ef59c	Craniofrontonasal syndrome (@DISEASE$) (OMIM #304110) is a very rare, X-linked developmental disorder characterized by facial stigmata, including @PHENOTYPICFEATURE$, frontonasal dysplasia, craniosynostosis, bifid nasal tip, and digital abnormalities.	has_symptom
+a7341e9d0df539be85cd571cf8343e2f270f39ae	@DISEASE$ (CFNS) (OMIM #304110) is a very rare, X-linked developmental disorder characterized by facial stigmata, including @PHENOTYPICFEATURE$, frontonasal dysplasia, craniosynostosis, bifid nasal tip, and digital abnormalities.	has_symptom
+4435c0d0b1a60ed54e50f35aa7f004d4f959601a	@DISEASE$ (CFNS; MIM#304110) is characterized by asymmetric facial features with @PHENOTYPICFEATURE$ and a broad bifid nose due to synostosis of the coronal suture.	has_symptom
+1089d02afb2341ad6dad5df79f8740ee887ddd57	Craniofrontonasal dysplasia (@DISEASE$) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and @PHENOTYPICFEATURE$.	has_symptom
+2211a7fe5c5d6640cda5c09882bc649bbfe90b18	@DISEASE$ (CFND) was diagnosed in a male child who had bilateral coronal craniosynostosis, midline facial clefting with cleft lip and palate, a broad and high forehead, and @PHENOTYPICFEATURE$.	has_symptom
+d33bc216b9081109991456404dbd33f845630407	@DISEASE$ is characterized by coronal craniosynostosis, @PHENOTYPICFEATURE$, telecanthus, a broad grooved nasal tip, dental anomalies, mild syndactyly, and broad thumbs.	has_symptom
+f2ff887b6d48c5bdbf930bb3e01edc94457b3a6a	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, @DISEASE$, telecanthus, a broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly, and broad thumbs.	false
+041f5bedf53e928a5596ad337074bdfe09e48555	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, @DISEASE$, telecanthus, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+62b50b682e4b6eeacf1eefc790651648c31ae9d2	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, @DISEASE$, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+6638bb2ac57ef9a845e05057d5d44cbfacd82929	@DISEASE$ is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly, and broad thumbs.	false
+394d80566e11af80b554190ab4af0b42e377a22b	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, @DISEASE$, a broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly, and broad thumbs.	false
+296438d50d3c5c7b8c2ac25978b47901b0a238d9	@DISEASE$ is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+a8e16136d449b69fb14f3cd2b0d2bf279f023a28	Craniofrontonasal syndrome is characterized by coronal @DISEASE$, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+9f53395dc03428649331f74056307974f7fa3cc8	Craniofrontonasal syndrome is characterized by coronal @DISEASE$, hypertelorism, telecanthus, a broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly, and broad thumbs.	false
+6b25ea7f939d3dbb79cbb771ef2172d4f554b6ba	@DISEASE$ (CFNS) is a very rare genetic disorder with variable clinical phenotypes, including brachycephaly, @PHENOTYPICFEATURE$, and a bifid nasal tip.	has_symptom
+96424109063294b4a3c2bde56e56bfb0e6cd261c	@DISEASE$'s (CFND's) phenotypic range includes @PHENOTYPICFEATURE$, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies.	has_symptom
+962957cb7b13fc01f1ea85cd218974c01aadcc87	@DISEASE$'s (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+4a3a0ce45bf84700347fa9cc266d230f4d06429b	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal @DISEASE$, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+82a0846b91756f2a0fb5d28022bcb0c410babb32	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2e818fa8490563c3e02cd84ac025910d75fd0643	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes @DISEASE$, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+e6f442c060c64e7dddcc5864f6629eca35ec0865	Heterozygous females have craniofrontonasal dysplasia (@DISEASE$) and occasionally extracranial manifestations including midline defects and skeletal abnormalities, whereas hemizygous males show no or only mild features such as @PHENOTYPICFEATURE$ and rarely show cleft lip or palate.	has_symptom
+78a7d16c68dee0585c215bccf9e417974b5d01be	Heterozygous females have @DISEASE$ (CFND) and occasionally extracranial manifestations including midline defects and skeletal abnormalities, whereas hemizygous males show no or only mild features such as @PHENOTYPICFEATURE$ and rarely show cleft lip or palate.	has_symptom
+156564bdcc270364002db83b972e714d44ae66cf	Heterozygous females have @DISEASE$ (CFND) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show cleft lip or palate.	false
+f2c751474841e9687104c66c04c1c751f78b6d57	Heterozygous females have craniofrontonasal dysplasia (CFND) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show @DISEASE$ or palate.	false
+1ddeab78f05bf93fe2ab6c200fa138ae4189c71f	Heterozygous females have craniofrontonasal dysplasia (@DISEASE$) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show cleft lip or palate.	false
+56b21c0d2b592dc831624f55c898b6f4eccc5e69	Heterozygous females have craniofrontonasal dysplasia (CFND) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as @DISEASE$ and rarely show cleft lip or palate.	false
+8303ed248410c295841312b36463cd645677c2fe	Heterozygous females have craniofrontonasal dysplasia (CFND) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show cleft lip or @DISEASE$.	false
+db1eb221a20fd2303c38f030459adf75409c4986	@DISEASE$ (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with @PHENOTYPICFEATURE$ only.	has_symptom
+a49902b8ebc5900cbad4b0fd454f12121e89776e	Craniofrontonasal syndrome (@DISEASE$) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis, and additional minor malformations, but males are usually mildly affected with @PHENOTYPICFEATURE$ only.	has_symptom
+a4b675e4232c3dd098b5fc5744a6695cf8c41d1c	Craniofrontonasal syndrome (@DISEASE$), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with @PHENOTYPICFEATURE$ as the only feature.	has_symptom
+bda01eb5243a89890d85a65023ba119efd0cf54e	@DISEASE$ (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with @PHENOTYPICFEATURE$ as the only feature.	has_symptom
+858e14e8d94b678c9e3fcdcba07882485430802a	A 7-year-old boy presented with @PHENOTYPICFEATURE$, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with @DISEASE$.	has_symptom
+217d72b48e04da9e59b5971106d26407cb4954b5	A 7-year-old boy presented with @DISEASE$, broad nasal root, midfacial hypoplasia, mandibular prognathia, @PHENOTYPICFEATURE$, and scaphocephaly was clinically diagnosed with CFNS.	false
+be50f51bd7f3e7866c301fa6c322a01f547d4e2e	A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, @PHENOTYPICFEATURE$, and scaphocephaly was clinically diagnosed with @DISEASE$.	false
+5a7b21d1e000f63cad676e90c4cb00bf3c5e7bde	The multichannel auditory brainstem implant (ABI) has been used successfully to treat @PHENOTYPICFEATURE$ in individuals with @DISEASE$ type II.	has_symptom
+961d504f0ff40ee7a8c8ec73bcfb6d3b6026efba	Treatment in patients with the genetic disorder @DISEASE$ type II (NF2) is complicated by their development of bilateral VS and risk of complete @PHENOTYPICFEATURE$.	has_symptom
+e22025953e8119fb7d1c174aaa0cc6050ba304f9	The familial association of @DISEASE$, peroneal muscular atrophy, @PHENOTYPICFEATURE$, partial albinism, and Axenfeld's defect.	has_symptom
+f22e0139ff9615bf644cea9b5da56d4394c96f3b	The first two children had a @DISEASE$ type II with bilateral sensorineural deafness; in both cases, the implant was inserted during the surgical removal of a vestibular schwannoma; the third patient had profound @PHENOTYPICFEATURE$ due to bilateral cochlear nerve insufficiency associated with inner ear malformation.	has_symptom
+ca193204d8e9fdee33866a5e8c1b149d2fbfa9ed	Bilateral VS are the hallmark of @DISEASE$ type II, commonly leading to complete @PHENOTYPICFEATURE$ and cranial nerve deficits as a result of tumor progression or treatment with surgery or radiation.	has_symptom
+9f6a7f4c362e33a154b9ee2d4346fbc0b57c9693	Bilateral VS are the hallmark of @DISEASE$ type II, commonly leading to complete deafness and cranial nerve deficits as a result of @PHENOTYPICFEATURE$ progression or treatment with surgery or radiation.	false
+6fb72d24f09117328e6ca05c08a394b9db0dacc9	Bilateral VS are the hallmark of neurofibromatosis type II, commonly leading to complete @DISEASE$ and cranial nerve deficits as a result of @PHENOTYPICFEATURE$ progression or treatment with surgery or radiation.	false
+c16860ae4304ffb914f801e70bb2f628fa5f4c41	We report a case in which an acoustic tumor was removed from an only-hearing ear in a patient with @DISEASE$ after hearing loss had progressed in that ear but before the development of total @PHENOTYPICFEATURE$.	has_symptom
+0bd02c7922b74bb358220fcdb80862bae5180feb	We report a case in which an acoustic @PHENOTYPICFEATURE$ was removed from an only-hearing ear in a patient with neurofibromatosis after hearing loss had progressed in that ear but before the development of total @DISEASE$.	false
+3691ea9089ae4a31d0c00e6bbe04dcbe817295aa	We report a case in which an acoustic @PHENOTYPICFEATURE$ was removed from an only-hearing ear in a patient with neurofibromatosis after @DISEASE$ had progressed in that ear but before the development of total deafness.	false
+81c32f6e15ba9c834741ca9761d49311451ffd0e	We report a case in which an acoustic @PHENOTYPICFEATURE$ was removed from an only-hearing ear in a patient with @DISEASE$ after hearing loss had progressed in that ear but before the development of total deafness.	false
+8e45d99a4367b2f40b836598e76f35e4c93d81c5	Patients with @DISEASE$ type II will eventually succumb to bilateral @PHENOTYPICFEATURE$.	has_symptom
+4690be49ff2cb2bd4698d7900fcaef42fad9fd2c	@PHENOTYPICFEATURE$ and hyperpigmentation are present in @DISEASE$ type II (acoustic neuromata) and the multiple lentigines syndrome, while retinal pigmentation is a feature of the Usher syndrome.	has_symptom
+8b3ac410af71d48036c12b74090d47c585855edf	The four patients had chondrodysplasia, @PHENOTYPICFEATURE$, and facial features with @DISEASE$.	has_symptom
+9e486333d38b8cdb369648bdb0e60202002fea49	We describe a male infant with findings associated with this condition, including an eyelid appendage, discrete hypoplastic skin lesions, unilateral @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+92c438b907264f4644dab86dfbd2ca3dc3df6014	Internal @PHENOTYPICFEATURE$, optic nerve aplasia, and @DISEASE$ in CPB-WE (Wezob) and Cpb:WU (Wistar) rats.	has_symptom
+a3ab865dc1a52ad2c9128b6237efa92b29e4faa3	Such information is important to improve our understanding of the etiology of congenital disease where dynamic changes in mechanical properties are likely involved, such as situs inversus in the heart, @PHENOTYPICFEATURE$ in the brain, and @DISEASE$ in the eye.	has_symptom
+d1fa8ee59d8aa2c7ba2e4be47a42f143ebaa6d29	Congenital retinal detachment in @DISEASE$ associated with internal @PHENOTYPICFEATURE$.	has_symptom
+b2e0927cde92d5af07d42c3819655f4c1017def3	We suggest that the minimal diagnostic criteria for Delleman syndrome include central nervous system cyst or @PHENOTYPICFEATURE$, orbital cysts or @DISEASE$, and focal skin defects.	has_symptom
+1f6ebab5856f22fe064b84bfb7e93fa6ba76ef66	We suggest that the minimal diagnostic criteria for Delleman syndrome include @PHENOTYPICFEATURE$ or hydrocephalus, orbital cysts or @DISEASE$, and focal skin defects.	false
+847d93897d61995f39bfc53326142060dd31ffba	We suggest that the minimal diagnostic criteria for @DISEASE$ include @PHENOTYPICFEATURE$ or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects.	false
+c1727c0a7ae90186989cf151efc3a051f3c46ed6	We suggest that the minimal diagnostic criteria for Delleman syndrome include @PHENOTYPICFEATURE$ or @DISEASE$, orbital cysts or microphthalmia, and focal skin defects.	false
+02107915e19c5f438382cbad3c32317eed2653a7	Type 2 @DISEASE$ patients have @PHENOTYPICFEATURE$ that are both an early indication of their diagnosis, and require monitoring and management to ensure the highest possible quality of life.	has_symptom
+b746a8346b85c87396c49828235c5fffbc907d17	Lysosomal storage diseases such as @DISEASE$ are associated with @PHENOTYPICFEATURE$.	has_symptom
+f7b361a69deecac2a2ae59be7237200a184f7df4	Besides palmar and plantar @PHENOTYPICFEATURE$, botulinum toxin has demonstrated efficacy in different conditions associated with hyperhidrosis, such as dyshidrosis, multiple eccrine hidrocystomas, hidradenitis suppurativa, @DISEASE$, but also in different conditions worsened by hyperhidrosis such as Hailey-Hailey disease, Darier disease, inversed psoriasis, aquagenic palmoplantar keratoderma, pachyonychia congenital.	has_symptom
+957fee3a5c08efa8f790141f1aeab30a0be337fa	Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in @DISEASE$: in utero growth restriction, congenital hypotonia, gross motor delay, arrested hydrocephalus, mild to moderate mental retardation, joint hyperextensibility, @PHENOTYPICFEATURE$, and precocious puberty.	has_symptom
+fa55f0813687af39ffba50e88195f866c731370a	Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in @DISEASE$: in utero growth restriction, congenital hypotonia, gross motor delay, arrested @PHENOTYPICFEATURE$, mild to moderate mental retardation, joint hyperextensibility, short stature, and precocious puberty.	false
+fea1e9896b3942b0b338bbe86b188f53c48c3137	Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in mUPD14 syndrome: in utero growth restriction, congenital hypotonia, gross motor delay, arrested @PHENOTYPICFEATURE$, mild to moderate mental retardation, joint hyperextensibility, @DISEASE$, and precocious puberty.	false
+b0ffc23cdc4e30536431c88ce76d8efa80cef92d	proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, @DISEASE$, midline brain defects associated with panhypopituitarism, intellectual disability, scoliosis, and @PHENOTYPICFEATURE$.	has_symptom
+27e0c1bc4d90b5b6a5523effd6915c39198e3077	proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, biliary atresia, midline brain defects associated with panhypopituitarism, @PHENOTYPICFEATURE$, @DISEASE$, and seizures.	false
+ee70e0caf479686c5192a4cc578ad42cd2a9e329	proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, biliary atresia, midline brain defects associated with panhypopituitarism, @PHENOTYPICFEATURE$, scoliosis, and @DISEASE$.	false
+f57eadd48dd71834b0e513f2828a82638232da01	proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, @DISEASE$, midline brain defects associated with panhypopituitarism, @PHENOTYPICFEATURE$, scoliosis, and seizures.	false
+fc48f59936b0eb86d93eb660bf0601879702bce3	A four-year-old girl with @DISEASE$ was noted to have one year history of torticollis and progressive motor deterioration presenting with @PHENOTYPICFEATURE$, ataxia or quadriparesis for the past three months.	has_symptom
+d54d05b531c1aa2bde3b614e5deda0a7220ff5a9	Fracture rate in women with oestrogen deficiency - Comparison of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+923bd1fd51dfb4557f197467a1e09e1657d1c679	@DISEASE$ is a rare, recessive skeletal dysplasia characterized by short stature, @PHENOTYPICFEATURE$, and aberrant radiographic findings of the spine and long bone metaphysis.	has_symptom
+21b8089468dd7e2ed6bf47a161dbe995bd353a46	@DISEASE$ is a rare, recessive @PHENOTYPICFEATURE$ characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+4001ccb31c365ec60732182a1ebfca97aba5728c	@DISEASE$ is a rare, recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+34b6033e656792f7b0ffee6941c1978071ddf5ca	SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, @DISEASE$, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+d14dff24fdb309525ebd768aed615875810b5e9c	SPONASTRIME dysplasia is a rare, recessive @PHENOTYPICFEATURE$ characterized by short stature, @DISEASE$, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+96861f60c1d3f176a85ed33b28bf7d5b59ac9328	To examine the prevalence of @PHENOTYPICFEATURE$ in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with @DISEASE$.	has_symptom
+c41b6125c84d61fd9a53291a48ba77d7a6646094	Prevalence of @PHENOTYPICFEATURE$, ectopic eruption and associated oral malformations in subjects with @DISEASE$.	has_symptom
+c6a709157cab75508be2d860032b65f4b439abac	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @PHENOTYPICFEATURE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	has_symptom
+7804e1f02fee57db987f09a3e249bc2dbbb6d5c2	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial @PHENOTYPICFEATURE$; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+09904aa1d306085fadc25f7ccfcb3e5f53b65520	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), @PHENOTYPICFEATURE$ (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+4a3d30bbbc859b7c7134fe6784b1631d9d288777	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial @PHENOTYPICFEATURE$; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+0a21f14210237f937426e6d2db198da264e9b077	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and @PHENOTYPICFEATURE$ (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+12f51cc30f4986544f94b0a768cb69b6426958cb	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial @PHENOTYPICFEATURE$; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+5547bc1d92af4562b27518b8895ac169fea4ba20	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial @PHENOTYPICFEATURE$; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+b843bdee9ede64f6b38ef78d90f28644364fe51d	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), @PHENOTYPICFEATURE$ (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+9a5a720e271e0b4338edd2c48101d9b69987c1c7	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa @PHENOTYPICFEATURE$; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+820747f74eae68615d6c708a7ee028e8a600cc1c	The most frequent symptoms and signs at diagnosis were: headache (33%), @PHENOTYPICFEATURE$ (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+bd612efff029222af9e0c4efeec9c9058f30e602	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and @PHENOTYPICFEATURE$ (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+cf1015a013859ac6317c87db27b5c2dd3c8d49a9	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and @PHENOTYPICFEATURE$ (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+f6a04b189696c9a0a0610f9b8265288b0031a351	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem @PHENOTYPICFEATURE$; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+88bec3246d1d4faf61d22705a74240268a0d30a1	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial @PHENOTYPICFEATURE$; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+cd805b2bd6e4ca85e58bf0e98c69169077717c13	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), @PHENOTYPICFEATURE$ (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+871703d6594ff18a894c5318706043817bbaf3e7	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial @PHENOTYPICFEATURE$; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+b32f8a2e98108677440581d0df591e390e838828	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and @PHENOTYPICFEATURE$ (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+25772e335fdf070803a6a887e31471a33fe27fe9	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial @PHENOTYPICFEATURE$; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+59ab87ed3aac0db564bec9cda71e881697dd61e1	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa @PHENOTYPICFEATURE$; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+0ca4f1d617829bcf6d2814bc6ce1a9b81a5ca1c7	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), @PHENOTYPICFEATURE$ (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+571c27ffd29846dd4cf85a0436d6ad1f40af5510	The most frequent symptoms and signs at diagnosis were: headache (33%), @PHENOTYPICFEATURE$ (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+2ff09a236c253bb601e24c5acdc5c5dcf10cd5f1	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem @PHENOTYPICFEATURE$; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+ae4a901021fbccf97671acda49e5485603c38fcd	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial @PHENOTYPICFEATURE$ and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+f3d5c0f80e508b929e2d8c453f7acfd2b0eb5a55	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), @PHENOTYPICFEATURE$ (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+c3d154274d2b2427ab0bbfdc8b72c53652a92181	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), @PHENOTYPICFEATURE$ (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+f3e76c7105a6bfb49a9d8f00dfae6ccc74944129	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial @PHENOTYPICFEATURE$ and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+9199cda173f706869c6ed1daa460a0d948188d7a	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and @PHENOTYPICFEATURE$ (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+7eba36e00aa1adb877d56b32a3bdddc0fec61cec	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), @PHENOTYPICFEATURE$ (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+6b3b48c3d515d8ff562ce1518987abf7215a1d35	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and @PHENOTYPICFEATURE$ (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+62be10c27017c5048d6d91f938fdca610c3f5428	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), @PHENOTYPICFEATURE$ (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+76fad2b53e287cc0ed6d53a42f3341ecd3044986	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial @PHENOTYPICFEATURE$; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+50ae08db785e08f3f445c378c7f4d8ebe5ec5e2d	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem @PHENOTYPICFEATURE$; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+7b6aa5e844344a22e01014b4d85fbed2c3602808	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa @PHENOTYPICFEATURE$; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+b270c0146dadb8bf6902e68eaa76f266a05e99b5	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), @PHENOTYPICFEATURE$ (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+1e15ae3dc4c1f9fbe47369f9e0de44133b1849de	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), @PHENOTYPICFEATURE$ (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+de18ded2653ad44ee37c050fcd82750e4a0d7893	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial @PHENOTYPICFEATURE$ and @DISEASE$; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+c138ffdb021e2a5a3692cb7e4f5793aeb5e61d8f	The most frequent symptoms and signs at diagnosis were: headache (33%), @PHENOTYPICFEATURE$ (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and @DISEASE$ (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), abnormal gait and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+db1cc512edc935e88f2f2fe53b6c92f141bbf736	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), @PHENOTYPICFEATURE$ (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+1412761da429a33c2a93735c061a29f822a76114	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial @PHENOTYPICFEATURE$; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), squint (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+59717e51a7b623a6ba5e930e9dfb5f14137f2ce0	The most frequent symptoms and signs at diagnosis were: headache (33%), nausea and vomiting (32%), abnormalities of gait and coordination (27%), and papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritability (24%), and lethargy (21%) for children aged under 4 years with intracranial tumours; reduced visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tumour and neurofibromatosis; nausea and vomiting (75%), headache (67%), @DISEASE$ and coordination (60%), and papilloedema (34%) for posterior fossa tumours; unspecified symptoms and signs of raised intracranial pressure (47%), seizures (38%), and papilloedema (21%) for supratentorial tumours; headache (49%), abnormal eye movements (21%), @PHENOTYPICFEATURE$ (21%), and nausea and vomiting (19%) for central brain tumours; abnormal gait and coordination (78%), cranial nerve palsies (52%), pyramidal signs (33%), headache (23%), and squint (19%) for brainstem tumours; and back pain (67%), abnormalities of gait and coordination (42%), spinal deformity (39%), focal weakness (21%), and sphincter disturbance (20%) for spinal-cord tumours.	false
+c1d2903009b44bf46c4c069949a6db5aed6a0749	Her clinical symptoms, which are now stable, became evident at the age of 9 with the onset of decreased visual acuity, bilateral @DISEASE$, nystagmus, episodic lower extremity weakness, peripheral neuropathy, and @PHENOTYPICFEATURE$.	has_symptom
+79552eec625bde5e9135f6c09b684e99b1eb5e62	Her clinical symptoms, which are now stable, became evident at the age of 9 with the onset of decreased visual acuity, bilateral optic atrophy, nystagmus, episodic lower extremity weakness, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8ab82e891d778c0449f18bcb8d52062ff3a5c8a3	Her clinical symptoms, which are now stable, became evident at the age of 9 with the onset of decreased visual acuity, bilateral @DISEASE$, nystagmus, episodic lower extremity weakness, @PHENOTYPICFEATURE$, and gait abnormalities.	false
+ee2c915b0ad766da01ccb05bd8ec8ad54ac20f20	The Arg64 variant is extraordinarily rare with each family showing a particular pattern of organ involvement, however while @DISEASE$, gastrointestinal involvement and @PHENOTYPICFEATURE$ are common, lymph node involvement is very rare.	has_symptom
+4a7772be8d569b90411a568e777e8e7f986a0744	Lupus was present in five cases, the @DISEASE$ in three cases, diabetes in one case, @PHENOTYPICFEATURE$ on dialysis in two cases, and there were three renal transplant recipients.	has_symptom
+770563bb0e529d34e145df3097087af27ef635a9	Significantly higher proportions of comorbidities such as congestive heart failure, diabetes, hypertension, hypothyroidism, liver disease, @PHENOTYPICFEATURE$, @DISEASE$, systemic sclerosis and portal hypertension, etc. were present in these patients.	has_symptom
+a1e181813313273f8d438d8e0f9f3425cea82320	Significantly higher proportions of comorbidities such as @PHENOTYPICFEATURE$, diabetes, hypertension, hypothyroidism, @DISEASE$, renal failure, Sjogren syndrome, systemic sclerosis and portal hypertension, etc. were present in these patients.	false
+53616e86b60b9a01d8661ab2294e9f8e5d8b7c66	Significantly higher proportions of comorbidities such as @PHENOTYPICFEATURE$, diabetes, hypertension, hypothyroidism, liver disease, @DISEASE$, Sjogren syndrome, systemic sclerosis and portal hypertension, etc. were present in these patients.	false
+f66f040c4bc7dba23f272d8457dc3916b9ef8a94	Significantly higher proportions of comorbidities such as @PHENOTYPICFEATURE$, diabetes, hypertension, @DISEASE$, liver disease, renal failure, Sjogren syndrome, systemic sclerosis and portal hypertension, etc. were present in these patients.	false
+4b30feb11fde1de9a309e500e13d86792031e4e7	Significantly higher proportions of comorbidities such as @PHENOTYPICFEATURE$, diabetes, hypertension, hypothyroidism, liver disease, renal failure, Sjogren syndrome, @DISEASE$ and portal hypertension, etc. were present in these patients.	false
+ca675aa2c7448b7b9050fca32485c7a62968b0b4	Significantly higher proportions of comorbidities such as @PHENOTYPICFEATURE$, diabetes, hypertension, hypothyroidism, liver disease, renal failure, @DISEASE$, systemic sclerosis and portal hypertension, etc. were present in these patients.	false
+fb7d392a9a7f907989b8af1fa139d7aae9f8e082	After one year, the patient began to exhibit signs of "@DISEASE$", and at the same time, he demonstrated progressive @PHENOTYPICFEATURE$.	has_symptom
+1a2fc60ec88cd8a4400252ab47e35cbcb247eb87	After one year, he began to show signs of @DISEASE$ and at the same time developed progressive @PHENOTYPICFEATURE$.	has_symptom
+1add2b8d1bed85f98bf777bde62488d3ea21b6b9	A-75-year old woman with @DISEASE$ developed Moraxella catarrhalis bacteremic @PHENOTYPICFEATURE$.	has_symptom
+3d7a2e50ef4d3935120c6505b408130d701ca13f	We encountered a male infant with infantile @DISEASE$ presenting with megalencephaly and @PHENOTYPICFEATURE$ as a neonate and subtle seizures at 3 months of age.	has_symptom
+50c88409da3c0b9dbdcc375a277fc613459a54c8	We encountered a male infant with infantile Alexander disease presenting with megalencephaly and @DISEASE$ as a neonate and subtle @PHENOTYPICFEATURE$ at 3 months of age.	false
+1723fc7c6bfabe5f6ac6a166f9fdb61c9b127a32	We encountered a male infant with infantile @DISEASE$ presenting with megalencephaly and hydrocephalus as a neonate and subtle @PHENOTYPICFEATURE$ at 3 months of age.	false
+283dafac0bce1a861fb6bbfb653693135efd7821	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), @DISEASE$, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	has_symptom
+b7415784073ae1f44353e56002a9c80ca50687ab	Diseases need to be differentiated from Sotos syndrome include fragile X syndrome, arrested @PHENOTYPICFEATURE$, Canavan disease and @DISEASE$.	has_symptom
+acb14a727470438cca5983239f6efdca2f5f97aa	We describe a 6-month-old girl with infantile @DISEASE$ with @PHENOTYPICFEATURE$ who developed similar clinical symptoms with apathia, somnolence, and sopor, as well as slowing of the background activity in EEG, 3 days after starting VGB.	has_symptom
+cb089e69e1d9ea97b966d043f2bd2939d705781e	To define a new clinical entity in a consanguineous family with six children affected by a @DISEASE$, including @PHENOTYPICFEATURE$, crystalline lens malformation, retinal detachment, osteoporosis, and platyspondyly.	has_symptom
+95fd5d0c8b3531bdcb408ec31d11e060fe67adb3	@DISEASE$: a new entity with crystalline lens malformation, @PHENOTYPICFEATURE$, retinal detachment, osteoporosis, and platyspondyly.	has_symptom
+0f4fdb04a3fe5a0fcd20fce10571573901509772	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked @PHENOTYPICFEATURE$, sex-linked cataract and @DISEASE$.	has_symptom
+0d381cb79b399d0d99e8d774c27f04ba48fef9f1	The main differential diagnoses comprise @DISEASE$, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked @PHENOTYPICFEATURE$ and congenital retinal detachment.	false
+435bcfdad50b59739de2ed37c9ee338655056227	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile @DISEASE$, sex-linked microphthalmia, sex-linked @PHENOTYPICFEATURE$ and congenital retinal detachment.	false
+12b739090e3ff9c32398f2cb781a7148caa67bcf	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked @DISEASE$, sex-linked @PHENOTYPICFEATURE$ and congenital retinal detachment.	false
+a40ac9ad41081430ed2eefa02695345920adfd0d	The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked @PHENOTYPICFEATURE$ and @DISEASE$.	false
+239a0fd401c3d4dc97f242656b388b9cd74f1022	@PHENOTYPICFEATURE$ and retinoic acid syndrome in patients with @DISEASE$ treated with arsenic trioxide.	has_symptom
+d3ba270901fbb1a616bbc007effbe0c9d8a90392	Role for the @DISEASE$ protein in the promotion of @PHENOTYPICFEATURE$ cell growth.	has_symptom
+aeefa4634c7c63fe4c35bc79692a082cdf7be909	@DISEASE$ through the lens of tissue and @PHENOTYPICFEATURE$ genomics.	has_symptom
+a199185b0c46d7d57b3390a56a406980517e9116	The reported incidence of @PHENOTYPICFEATURE$ associated with @DISEASE$ is about 10%.	has_symptom
+dc747f177271058c188446ecf2366a3df7021504	With respect to malignancy, non-epithelial @PHENOTYPICFEATURE$ are more common in @DISEASE$ patients than in the general population.	has_symptom
+7973084b1b6d4603c73c5558e1f80170f948215d	The inclination of patients suffering from @DISEASE$ to develop @PHENOTYPICFEATURE$ may be related to this immunodeficiency.	has_symptom
+4818e9cccc4a2310fc9214e597db009bca0ca5d5	@DISEASE$ helicase is a selective vulnerability of microsatellite instability-high @PHENOTYPICFEATURE$ cells.	has_symptom
+a587945b314f967c8e2036a0c98177c084d0a3f1	Spectrum and risk of @PHENOTYPICFEATURE$ in @DISEASE$: a systematic review.	has_symptom
+4f02c4aa90b3b06f1937f0266d5f3c6d6d5ed452	A cascade leading to premature aging phenotypes including abnormal @PHENOTYPICFEATURE$ profiles in @DISEASE$ (review).	has_symptom
+04ec173dbb407760928277ca1044dfd111bab2a9	Herein we report on a patient with @DISEASE$ who developed two primary melanocytic @PHENOTYPICFEATURE$.	has_symptom
+c13acfffdbd4c7ccfd0849cbfa28d2a02b66a039	[Utilization of @DISEASE$ mouse model in studying premature aging and @PHENOTYPICFEATURE$].	has_symptom
+db24588320cb6e6e6b0517f1dea1e4f90429a4e0	Schwannomatosis and @DISEASE$ are hereditary tumor syndromes, and @PHENOTYPICFEATURE$ has been reported in both.	has_symptom
+9decf89c5aa20f885228453e21de8ce7fcfb5437	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for @DISEASE$. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), @PHENOTYPICFEATURE$, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	has_symptom
+1a8026b9aea4438fe04daebc189251ed2d34779e	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for @DISEASE$. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (@PHENOTYPICFEATURE$, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+6d9cdc823e7a1eb3b6c8a7b70236fd673467f3c1	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for @DISEASE$. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin @PHENOTYPICFEATURE$).	false
+89c801c85f1e6ef63702096fe8bf41b344d50770	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), @DISEASE$, ophthalmological lesions (@PHENOTYPICFEATURE$, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+fcfc8d0a3944247191f63f73fe3ccbbe3b305a60	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo @PHENOTYPICFEATURE$ for @DISEASE$. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+bd4faa4b03d05ee8f86e4a0c66e9d628e9af087d	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), @DISEASE$, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin @PHENOTYPICFEATURE$).	false
+336e963356ee8d76e6b36c290eb902c7f6d76738	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo @PHENOTYPICFEATURE$ for neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), @DISEASE$, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+30d27ed60c55fe69aff671b391649576611c2393	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop @DISEASE$ (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (@PHENOTYPICFEATURE$, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+72491385669446a57cb2c05f19b7329738c10b2e	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients develop @DISEASE$ (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin @PHENOTYPICFEATURE$).	false
+d3d09aa45fb09209aee7e9170348fe76c695248d	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo @PHENOTYPICFEATURE$ for neurofibromatosis type 2. Patients develop @DISEASE$ (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+775731a097d074a45a9d581507e5000dc11578ee	An unusual clinical course of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c8b72217642b01f0fc6f6abecc88fa733e14ad3b	Schwann cell proliferation as the cause of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+1e4702ca32afd7d7b8676fa7087319aa5aab5d95	@DISEASE$ (NF2) is an inherited, rare autosomal dominant syndrome characterised by the development of multiple benign cranial and spinal tumours, @PHENOTYPICFEATURE$, ophthalmological and cutaneous lesions.	has_symptom
+3e470f2e84dec3f9209f91a3290e257619044a69	Neurofibromatosis type 2 (NF2) is an inherited, rare autosomal dominant syndrome characterised by the development of multiple benign cranial and spinal @PHENOTYPICFEATURE$, @DISEASE$, ophthalmological and cutaneous lesions.	false
+07c9f48b69cd2f42cf1a5e405f9c991409a12f11	Neurofibromatosis type 2 (NF2) is an inherited, rare autosomal dominant @DISEASE$ characterised by the development of multiple benign cranial and spinal @PHENOTYPICFEATURE$, peripheral neuropathy, ophthalmological and cutaneous lesions.	false
+bd9e205d9f49df63197f85bf708e15384e044708	@DISEASE$ (NF2) is an inherited, rare autosomal dominant syndrome characterised by the development of multiple benign cranial and spinal @PHENOTYPICFEATURE$, peripheral neuropathy, ophthalmological and cutaneous lesions.	false
+ef81c3354e12b6025c6bb5d35903c41f9a99f662	A patient with @DISEASE$ had an asymmetrical @PHENOTYPICFEATURE$.	has_symptom
+4b6648fea70c3914e73e0718a2213bd627c4c767	We report an unusual clinical course of @PHENOTYPICFEATURE$ in a patient with @DISEASE$ (NF2).	has_symptom
+b037a795b5191e4cf6bc14818bbd4aed15cecfb0	Eleven subjects with glucocorticoid-suppressible hyperaldosteronism, a hereditary form of @DISEASE$ and @PHENOTYPICFEATURE$, and 10 age- and sex-matched control subjects were studied.	has_symptom
+e25123857ff4819c43070996781d8e7d164f9c95	[Nephrectomy for renal arterial @PHENOTYPICFEATURE$ with @DISEASE$].	has_symptom
+c2744b2a4afa366a9363bb6795d3158a2ad8a6aa	In 58/80 patients with secondary @PHENOTYPICFEATURE$ renal parenchymal disease was present, 14 had renovascular disease, three had @DISEASE$, four had primary hyperaldosteronism and one had a pheochromocytoma.	has_symptom
+32c669191d9f896a626050b54ffaab4f02bd8de5	The discriminatory power of three clinical tests for adrenal activity are compared by measuring the variability of the results obtained in 40 normal control subjects, 35 patients with mild essential @PHENOTYPICFEATURE$, and 13 patients with @DISEASE$.	has_symptom
+6736ec00361eaedfc90ea7792776d13cef3491e0	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, heart failure and @PHENOTYPICFEATURE$, stroke, @DISEASE$, obesity and renal failure, among others.	has_symptom
+743767a986fceb2d866b3fc48661ce901a17afda	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, @PHENOTYPICFEATURE$ and hypertension, stroke, @DISEASE$, obesity and renal failure, among others.	false
+04e6455ddb2149854cdd51b042d130855017fefa	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as @DISEASE$, @PHENOTYPICFEATURE$ and hypertension, stroke, Cushing's syndrome, obesity and renal failure, among others.	false
+efa2c909f45abe6669faa992f8bde4287e82b8ef	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as @DISEASE$, heart failure and hypertension, stroke, Cushing's syndrome, obesity and @PHENOTYPICFEATURE$, among others.	false
+66a038026283e0c31d385df203dc03c1aab81dfb	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, @PHENOTYPICFEATURE$ and @DISEASE$, stroke, Cushing's syndrome, obesity and renal failure, among others.	false
+5939e5577b9f3e1cc0259ebeffd0ef6649e9f018	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, heart failure and @DISEASE$, stroke, Cushing's syndrome, obesity and @PHENOTYPICFEATURE$, among others.	false
+6710ce1fb9dea9f2cf5e7be693d627382ea334aa	Over-production of the steroid hormone cortisol is implicated in the progression of diseases such as diabetes, heart failure and hypertension, stroke, @DISEASE$, obesity and @PHENOTYPICFEATURE$, among others.	false
+2f0c9f929db28b7c9903b37ad3acef8be05ae1f1	Plasma prolactin level and plasma renin activity were determined in normal subjects and patients with low and normal renin essential hypertension, renal @PHENOTYPICFEATURE$, renovascular hypertension, primary aldosteronism, @DISEASE$, pheochromocytoma and malignant hypertension.	has_symptom
+55f2f042e2c04690172c7ca5357f4c6747a4db9c	Dexamethasone-sensitive @DISEASE$ is associated with early onset @PHENOTYPICFEATURE$ and primary hyperaldosteronism.	has_symptom
+fa7e0c66d3b062c1f122ddf42c11f107349e45e4	In acromegaly, difficult endotracheal intubation is possible whereas severe @DISEASE$ may be complicated with @PHENOTYPICFEATURE$ cardiac failure, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	has_symptom
+d0cb97895c7f68ab3ab3cc11af8c4ce3cca0b8c7	In acromegaly, difficult endotracheal intubation is possible whereas severe @DISEASE$ may be complicated with hypertensive @PHENOTYPICFEATURE$, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	false
+32bb205e52c7a2a0b8d2ecd58f074f3aab290cc8	In acromegaly, difficult endotracheal intubation is possible whereas severe Cushing's syndrome may be complicated with hypertensive @PHENOTYPICFEATURE$, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in @DISEASE$ preoperative and anaesthetic management.	false
+baf4aa5b49e9c1db682c85e07e1e46e1ff447b8a	In acromegaly, difficult endotracheal intubation is possible whereas severe Cushing's syndrome may be complicated with @DISEASE$ @PHENOTYPICFEATURE$, infections, thrombosis, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	false
+7c880ff44d30586a9857be380478e4a9be657a79	In acromegaly, difficult endotracheal intubation is possible whereas severe Cushing's syndrome may be complicated with hypertensive @PHENOTYPICFEATURE$, infections, @DISEASE$, delayed cicatrisation; (4) somatostatine analogs are a keystone in carcinoid tumors preoperative and anaesthetic management.	false
+37ff8986be90c2dbc46adddbac1ab2e0f11b979a	Although they have a vast array of beneficial effects such as immunosuppression and anti-inflammation, excess glucocorticoids can lead to iatrogenic @DISEASE$, which includes @PHENOTYPICFEATURE$ and cardiovascular disease.	has_symptom
+36dc003047c8dba9917528a74b4e2843f4dbd3ef	The paper is concerned with the results of determination of a value of Na+/H(+)-metabolism in 66 patients with arterial hypertension of different genesis, including 21 patients with stage 11 essential hypertension, 8 patients with renal @PHENOTYPICFEATURE$, 25 patients with Itsenko-@DISEASE$ or disease, 7 patients with pheochromocytoma, and 5 patients with primary hyperaldosteronism.	has_symptom
+af6838899f07a0eacdbf826890ca3588d50286d8	@PHENOTYPICFEATURE$ and formal thought disorders in parents of @DISEASE$ patients.	has_symptom
+aba6a7068ad2f9aaef9724ca7a2a595bfee28561	@DISEASE$ is an early onset, @PHENOTYPICFEATURE$ disorder with developmental and motor skills regression.	has_symptom
+09b8a6d85c8a5b59d603b1ef27de84158610a46a	@DISEASE$ (LS) is an early-onset @PHENOTYPICFEATURE$ disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children.	has_symptom
+29e77268392586d6ab874ae826a07ce4f5e85ec7	The present report describes the sudden death of a 3-year-old female child who had been clinically diagnosed with Leigh syndrome.@DISEASE$ is a heterogeneous @PHENOTYPICFEATURE$ disorder, which is characterized by focal or bilateral lesions in the thalamus, basal ganglia, brainstem, cerebellum, and spinal cord.	has_symptom
+caad8c6f6929a31be0455d81f28268e79aeddf60	The present report describes the sudden death of a 3-year-old female child who had been clinically diagnosed with @DISEASE$.Leigh syndrome is a heterogeneous @PHENOTYPICFEATURE$ disorder, which is characterized by focal or bilateral lesions in the thalamus, basal ganglia, brainstem, cerebellum, and spinal cord.	has_symptom
+905c8e107349c352ef72139b06486e486c40f9ae	@DISEASE$ (LS) is an early onset @PHENOTYPICFEATURE$ disorder with considerable clinical and genetic heterogeneities.	has_symptom
+ecff071951c9bb859b3a558355dc1409123392ff	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder, affecting 1 in 40,000 live births.	has_symptom
+cd8b4932d52460277ae64931c1391ed93628a54d	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation.	has_symptom
+bfeabb5983873cdefbad9bbca7137ee2ab0d6846	Initial symptoms of abdominal cramps, @PHENOTYPICFEATURE$, and a severe @DISEASE$-like diarrhea generally do not manifest until at least six to eight hours following ingestion and can be followed by renal and hepatic failure.	has_symptom
+38d0c41d928e815238936e733dbd082b4a321b02	@DISEASE$ (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as @PHENOTYPICFEATURE$, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH).	has_symptom
+af8661cc95e774b9bdaa46e2a575eb4039524610	@DISEASE$ is a rare autosomal recessive primary immunodeficiency disease caused by a mutation in the RAB27A gene and characterized by oculocutaneous @PHENOTYPICFEATURE$ and variable cellular immunodeficiency.	has_symptom
+df6c69c92170edddb1bd6b9b8ccac33432369883	@DISEASE$ in transient experimental @PHENOTYPICFEATURE$ in dogs.	has_symptom
+3cebdc709327b89003f97a97c62defcb5417883e	@DISEASE$ and anemia in @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+e75a0dcc1e0f4a82be91808db0c4e39c8f439c78	No patients presented @DISEASE$ or @PHENOTYPICFEATURE$.	has_symptom
+677e7a0ca76877babea33259f7ee84d91800beb4	@DISEASE$ is a common finding in patients with @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+3d9a2263d6d00c4f5b3239d077e3b147e2439274	The @DISEASE$ of @PHENOTYPICFEATURE$: pathophysiology and treatment.	has_symptom
+43df3e2267743e9a4b8ce6affec10bf8d080e9d0	@DISEASE$ in @PHENOTYPICFEATURE$.	has_symptom
+71b85d7508702303657b2046c47fd66051806d5b	Low incidence of @DISEASE$ in diabetic @PHENOTYPICFEATURE$.	has_symptom
+7bcca6063d687c928945183f30581121d5d1659a	Management of @DISEASE$ in patients with @PHENOTYPICFEATURE$.	has_symptom
+d4b16f9c24d5ebaf3d924bb04d9f6a853a608a7d	Fifty-eight patients with @DISEASE$ were identified: 43% (25) had a @PHENOTYPICFEATURE$ and 16% (9) underwent palatoplasty at our institution.	has_symptom
+d3f5a5c8aaafaa7a77529547dbf21eb26ae39242	Our findings suggest that children with @DISEASE$ and @PHENOTYPICFEATURE$ may have poor vascularity to palatal flaps created during palatoplasty.	has_symptom
+b9d08fe0510477a32628321ec154a0e4a37f3b42	Mandibulofacial dysostosis, severe lower eyelid coloboma, @PHENOTYPICFEATURE$, and alopecia: A new distinct form of @DISEASE$ or a severe form of Johnson-McMillin syndrome?	has_symptom
+defc7035fc74051e8b4ae0dbdc172f35e6c03a46	@DISEASE$, severe lower eyelid coloboma, @PHENOTYPICFEATURE$, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?	has_symptom
+ccd408c5e48a69ad35142aeafadc68a9ca9d4361	Successful anaesthetic management in a case of @DISEASE$ posted for @PHENOTYPICFEATURE$ repair is presented in this report.	has_symptom
+c64be7902f705e63e9814fe4304b6e9e51c3854a	A retrospective review of all patients with @DISEASE$ and @PHENOTYPICFEATURE$ was conducted over a 35-year period at a single institution.	has_symptom
+e168b46514da6036aa5004a3efa642272af827a1	@PHENOTYPICFEATURE$ is present in one-third of patients with @DISEASE$.	has_symptom
+284435233c696bdf836fbe60145f1d04d4a70266	Children with @DISEASE$ and @PHENOTYPICFEATURE$ have significantly higher palatal fistula risk than other children with cleft palate when double-reversing Z-plasty palate repair is performed.	has_symptom
+24cdf7a8c67621e7629c027cd623de5f78f4a1b3	Children with @DISEASE$ and cleft palate have significantly higher palatal fistula risk than other children with @PHENOTYPICFEATURE$ when double-reversing Z-plasty palate repair is performed.	has_symptom
+8fe2a0edfd3e82dd598e0b69b1009dec8e62b590	@DISEASE$ (TCS) is characterized by hypoplasia of the facial bones, @PHENOTYPICFEATURE$, and middle and external ear defects.	has_symptom
+b75749529ecfbed88617d9bb7997bdd69b57f730	Patients with @DISEASE$ and @PHENOTYPICFEATURE$ require close evaluation by a speech pathologist as the incidence of articulatory dysfunction is high.	has_symptom
+2a2e1ac414365f69eaa7e383b3130b062dc2bb41	A new syndrome with growth and mental retardation, @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	has_symptom
+8bbcd2f3078f3220b2aeeee493062247b9160bb5	A new syndrome with growth and mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and cleft palate.	false
+fcb07e1264a6305e6604d796ef79c6f6d57fdd9e	A new syndrome with growth and mental retardation, mandibulofacial dysostosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+83aa3ebd57e95767a1756caf23b68ef3bb1b069b	A new syndrome with growth and @PHENOTYPICFEATURE$, mandibulofacial dysostosis, microcephaly, and @DISEASE$.	false
+1a16660804e1b795f8109f68d0129189d959c55d	A new syndrome with growth and @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, and cleft palate.	false
+632a6f2e3c5e73384fccd077416d9e28975e3123	Ectopic mediastinal @DISEASE$ as a cause of dialysis-dependent @PHENOTYPICFEATURE$.	has_symptom
+d19ced87faada57062c5860e7440931543770cd0	Patients with @PHENOTYPICFEATURE$ (serum creatinine >1.7), hyperplastic disease, and @DISEASE$ were excluded.	has_symptom
+76a5bf0a07616c904439977327a3a9fe3547344c	Three patients with recurrent @DISEASE$ died of profound hypercalcemia, @PHENOTYPICFEATURE$, or cardiac arrhythmia.	has_symptom
+0663ac7a4ecb65bdff3cd573f19e523be33b5588	Three patients with recurrent @DISEASE$ died of profound hypercalcemia, renal failure, or @PHENOTYPICFEATURE$.	false
+fd1a0e505a8ee4a2196d45ff48ce2784367f30c3	Three patients with recurrent @DISEASE$ died of profound @PHENOTYPICFEATURE$, renal failure, or cardiac arrhythmia.	false
+3ef8598b6b56a33607600a61a208fd7cd45e1c31	Three patients with recurrent parathyroid carcinoma died of profound @PHENOTYPICFEATURE$, @DISEASE$, or cardiac arrhythmia.	false
+5ef81aa9c3210272e38fe352cf1a2bb531a722b8	Three patients with recurrent parathyroid carcinoma died of profound hypercalcemia, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+1cfb020cf589ba1bd0b56826522cf02c676c6566	[@DISEASE$ in a patient on hemodialysis for @PHENOTYPICFEATURE$].	has_symptom
+423f47182f5cf5920c8d9eefdcdf2212fe7970ed	Recurrent hyperparathyroidism is uncommon, except in patients with familial hyperparathyroidism, MEN-1 @DISEASE$, or @PHENOTYPICFEATURE$ and secondary hyperparathyroidism.	has_symptom
+f18d2fd972bc2c00ae49d461f94e9c3d680df9b8	Recurrent hyperparathyroidism is uncommon, except in patients with familial @PHENOTYPICFEATURE$, @DISEASE$ parathyroid carcinoma, or renal failure and secondary hyperparathyroidism.	false
+98aa2e64baf9005fb94a1cd5d2557676158cc951	Recurrent hyperparathyroidism is uncommon, except in patients with familial @PHENOTYPICFEATURE$, MEN-1 parathyroid carcinoma, or @DISEASE$ and secondary hyperparathyroidism.	false
+259e2f7e8b1ab8f88d6871cb19b17fb9df30fade	Recurrent @DISEASE$ is uncommon, except in patients with familial @PHENOTYPICFEATURE$, MEN-1 parathyroid carcinoma, or renal failure and secondary hyperparathyroidism.	false
+30f15281364742818303f8b35f682df3d9bb4dc0	Recurrent hyperparathyroidism is uncommon, except in patients with familial @PHENOTYPICFEATURE$, MEN-1 @DISEASE$, or renal failure and secondary hyperparathyroidism.	false
+87d0a45ae59999f8e1869365a0cb406a711cb5bb	Seven patients with recurrent hyperparathyroidism had either multiple endocrine adenomatosis type I (MEA) or familial hyperparathyroidism (FHP), one patient had @DISEASE$, and two patients had @PHENOTYPICFEATURE$ at the time of recurrence.	has_symptom
+912dda63ce56e92f8d33e5b30bc4ff595d3839e7	Seven patients with recurrent hyperparathyroidism had either @DISEASE$ (MEA) or familial @PHENOTYPICFEATURE$ (FHP), one patient had parathyroid cancer, and two patients had renal failure at the time of recurrence.	false
+0a69693d299a3ea1b56bd113108ab28c1a4ef69b	Seven patients with recurrent hyperparathyroidism had either multiple endocrine adenomatosis type I (MEA) or familial @PHENOTYPICFEATURE$ (FHP), one patient had @DISEASE$, and two patients had renal failure at the time of recurrence.	false
+c511d34fa477b8b80c3d0f97a3286d5caadb6190	Seven patients with recurrent hyperparathyroidism had either multiple endocrine adenomatosis type I (MEA) or familial @PHENOTYPICFEATURE$ (FHP), one patient had parathyroid cancer, and two patients had @DISEASE$ at the time of recurrence.	false
+6fcedad5e6c00e4bb278b5b71869f98a0316258b	Patients with unresectable @DISEASE$ develop severe hypercalcemia, bone fractures and @PHENOTYPICFEATURE$, and become unresponsive to conventional treatments.	has_symptom
+b5ffc6b0dbd69f64056c8e2dbf3494cd7becdb98	We identified 111 patients who underwent initial PTx between 1984 and 2008, and had no MEN-1, MEN-2, or CaR mutation; @DISEASE$; a history of lithium use; or @PHENOTYPICFEATURE$.	has_symptom
+c51b030c79a1d305befbd6903fcbb95c0e4de86c	Here, we report our experience of PTH immunization in a Japanese female suffering from refractory hypercalcemia and @PHENOTYPICFEATURE$ caused by unresectable metastatic @DISEASE$.	has_symptom
+6435e287ab617da514f3f64f45f60dfffb757e71	We describe a case of a 55-year-old man in whom primary @DISEASE$ led most likely to the development of end-stage dialysis-dependent @PHENOTYPICFEATURE$, and the diagnosis of the cancer was delayed due to ectopic localization of the tumor, and dramatic complications in the clinical course of the disease, including acute pancreatitis and peritionitis.	has_symptom
+4aaf1591ee790aeb2a622c3e2bb7518ef4985d39	We describe a case of a 55-year-old man in whom primary parathyroid carcinoma led most likely to the development of end-stage dialysis-dependent @DISEASE$, and the diagnosis of the cancer was delayed due to ectopic localization of the @PHENOTYPICFEATURE$, and dramatic complications in the clinical course of the disease, including acute pancreatitis and peritionitis.	false
+ce222bfc0f81246affe1ed13a7b04b94ead55bac	We describe a case of a 55-year-old man in whom primary parathyroid carcinoma led most likely to the development of end-stage dialysis-dependent renal failure, and the diagnosis of the @DISEASE$ was delayed due to ectopic localization of the @PHENOTYPICFEATURE$, and dramatic complications in the clinical course of the disease, including acute pancreatitis and peritionitis.	false
+19e885b09123ae4c03ee74339eb95c4bc695a854	We describe a case of a 55-year-old man in whom primary @DISEASE$ led most likely to the development of end-stage dialysis-dependent renal failure, and the diagnosis of the cancer was delayed due to ectopic localization of the @PHENOTYPICFEATURE$, and dramatic complications in the clinical course of the disease, including acute pancreatitis and peritionitis.	false
+53dde0d270c2a77a7f396a501961943b917fde01	We describe a case of a 55-year-old man in whom primary parathyroid carcinoma led most likely to the development of end-stage dialysis-@DISEASE$ renal failure, and the diagnosis of the cancer was delayed due to ectopic localization of the @PHENOTYPICFEATURE$, and dramatic complications in the clinical course of the disease, including acute pancreatitis and peritionitis.	false
+010d3bc14e8534e1739712d5908b263f21e77111	Clinical manifestations of identified DDIs included sedation,?respiratory depression, serotonin syndrome, @DISEASE$, delirium, seizures, ataxia, liver?and?kidney failure, bleeding, @PHENOTYPICFEATURE$, rhabdomyolysis, and others.	has_symptom
+dc87fae084b37cc49efde26d51743b27829b488a	Clinical manifestations of identified DDIs included sedation,?respiratory depression, serotonin syndrome, @DISEASE$, delirium, seizures, @PHENOTYPICFEATURE$, liver?and?kidney failure, bleeding, cardiac arrhythmias, rhabdomyolysis, and others.	false
+b74a903273f5caf6524134958e79e95ba05b0c33	Clinical manifestations of identified DDIs included sedation,?respiratory depression, serotonin syndrome, @DISEASE$, delirium, @PHENOTYPICFEATURE$, ataxia, liver?and?kidney failure, bleeding, cardiac arrhythmias, rhabdomyolysis, and others.	false
+edecf9f5e119ff58614cb37e2cd23e3aa6755d47	Clinical manifestations of identified DDIs included sedation,?respiratory depression, serotonin syndrome, neuroleptic malignant syndrome, delirium, seizures, @PHENOTYPICFEATURE$, liver?and?kidney failure, bleeding, @DISEASE$, rhabdomyolysis, and others.	false
+1deac7ce35739380b0314f96777fbba1897b4aa6	Clinical manifestations of identified DDIs included sedation,?respiratory depression, serotonin syndrome, neuroleptic malignant syndrome, delirium, @PHENOTYPICFEATURE$, ataxia, liver?and?kidney failure, bleeding, @DISEASE$, rhabdomyolysis, and others.	false
+4c7a7242394ae204e268d9468226ea63c8c90a4d	While overdose of tricyclic antidepressants is known to be dangerous and potentially fatal (causing hypotension, @PHENOTYPICFEATURE$, convulsions, respiratory failure, and other serious complications), overdose of amoxapine can cause other problems, and metabolic acidosis, seizures, @DISEASE$, and arrhythmia have been reported.	has_symptom
+5ce92c09c5fd8f74210512dfbbe771a0d256f0dd	While overdose of tricyclic antidepressants is known to be dangerous and potentially fatal (causing hypotension, arrhythmia, convulsions, respiratory failure, and other serious complications), overdose of amoxapine can cause other problems, and metabolic acidosis, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and @DISEASE$ have been reported.	false
+5faeaf716f94c03d6efeeb7b3553a91f0dc63406	While overdose of tricyclic antidepressants is known to be dangerous and potentially fatal (causing hypotension, @DISEASE$, convulsions, respiratory failure, and other serious complications), overdose of amoxapine can cause other problems, and metabolic acidosis, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and arrhythmia have been reported.	false
+b60376e9cc34f2c117ce9719bf7edba444a3c265	While overdose of tricyclic antidepressants is known to be dangerous and potentially fatal (causing @DISEASE$, arrhythmia, convulsions, respiratory failure, and other serious complications), overdose of amoxapine can cause other problems, and metabolic acidosis, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and arrhythmia have been reported.	false
+0698494befed9b95458b8f334bb610a14f9a1e9f	While overdose of tricyclic antidepressants is known to be dangerous and potentially fatal (causing hypotension, arrhythmia, convulsions, respiratory failure, and other serious complications), overdose of amoxapine can cause other problems, and metabolic acidosis, @PHENOTYPICFEATURE$, @DISEASE$, and arrhythmia have been reported.	false
+32ce99dc9bf26bf95a6da28b4fc37fb94c89d371	These complications may be a nuisance (eg, dry mouth and nausea) or serious and life-threatening (eg, @DISEASE$ and @PHENOTYPICFEATURE$).	has_symptom
+60438d72d5960ff00ab9163339e2554ed3daf0ed	and certain specific medical complications, i.e., pneumonia, urinary tract infection, sepsis, disseminated intravascular coagulation, rhabdomyolysis, dehydration, deep venous thrombosis, pulmonary embolism, urinary retention, decubitus, @PHENOTYPICFEATURE$, renal failure, @DISEASE$, hypernatremia, and liver dysfunction (all p values < .01,	has_symptom
+616c3fb10529328b4923218396adbd165ed4bd32	and certain specific medical complications, i.e., pneumonia, urinary tract infection, sepsis, disseminated intravascular coagulation, rhabdomyolysis, dehydration, deep venous thrombosis, pulmonary embolism, urinary retention, decubitus, @DISEASE$, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, hypernatremia, and liver dysfunction (all p values < .01,	false
+9763fe067c1d17a14e0e97c0ed6619f2f0bca0f4	and certain specific medical complications, i.e., @DISEASE$, urinary tract infection, sepsis, disseminated intravascular coagulation, rhabdomyolysis, dehydration, deep venous thrombosis, pulmonary embolism, urinary retention, decubitus, arrhythmia, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, hypernatremia, and liver dysfunction (all p values < .01,	false
+b2354ce7921305ba5cc36c9498cb91b069814ef0	and certain specific medical complications, i.e., pneumonia, urinary tract infection, sepsis, disseminated intravascular coagulation, rhabdomyolysis, dehydration, deep venous @DISEASE$, pulmonary embolism, urinary retention, decubitus, arrhythmia, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, hypernatremia, and liver dysfunction (all p values < .01,	false
+16b7285ec94b18a3538fc909b584069d6ba670e6	and certain specific medical complications, i.e., pneumonia, urinary tract infection, sepsis, disseminated intravascular coagulation, rhabdomyolysis, dehydration, deep venous thrombosis, pulmonary embolism, urinary retention, decubitus, arrhythmia, @PHENOTYPICFEATURE$, @DISEASE$, hypernatremia, and liver dysfunction (all p values < .01,	false
+84d61bda67cf752e20be5433f3367bdd79746053	Other adverse effects include anticholinergic and antidopaminergic effects, extrapyramidal symptoms, @DISEASE$, postural hypotension, metabolic syndrome, @PHENOTYPICFEATURE$, and sedation.	has_symptom
+0e1bfd74cfb6721020f369eabe534783d39d8352	We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, @PHENOTYPICFEATURE$, hypoalbuminaemia without proteinuria, suggestive of @DISEASE$ (SCLS).	has_symptom
+20137830fa938ff48701404a5d2562d3cf55cac8	We report on a 75-year-old woman who presented with recurrent episodes of hypotension, anasarca, @PHENOTYPICFEATURE$, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (@DISEASE$).	has_symptom
+dc060c30c6ab6b8f5fed1cf5460a828e180df0a7	We report on a 75-year-old woman who presented with recurrent episodes of @PHENOTYPICFEATURE$, anasarca, renal failure, hypoalbuminaemia without @DISEASE$, suggestive of systemic capillary leak syndrome (SCLS).	false
+220d5f1e529a911c8e2706a7bc0e214f8ee5c792	We report on a 75-year-old woman who presented with recurrent episodes of @PHENOTYPICFEATURE$, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of @DISEASE$ (SCLS).	false
+881e748f520b53b06fa822d1ec359c0bed20d614	We report on a 75-year-old woman who presented with recurrent episodes of @PHENOTYPICFEATURE$, anasarca, renal failure, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (@DISEASE$).	false
+d941d21101186280c94003f69d0b56c933752d55	We report on a 75-year-old woman who presented with recurrent episodes of @PHENOTYPICFEATURE$, anasarca, @DISEASE$, hypoalbuminaemia without proteinuria, suggestive of systemic capillary leak syndrome (SCLS).	false
+1c5a6533cfeb30b2cddc1931fe51ca07b4ab5d16	No patient developed @DISEASE$ or @PHENOTYPICFEATURE$ from XZ-CD5.	has_symptom
+5a9d698a67be4fd6854eb0ebad6eb92f78403707	Severe non-haematological toxicity included one case of fatal veno-occlusive disease, one case of thrombotic microangiopathy leading to terminal @PHENOTYPICFEATURE$, one case of @DISEASE$, one case of myocardial infarction and drug-induced fever in two patients.	has_symptom
+b486686c73c8496c2706a4f9c5827ef75bcc288c	Giant cell arteritis (GCA), previously @DISEASE$, is a systemic @PHENOTYPICFEATURE$ affecting the middle-sized or large arteries in patients older than 50 years of age.	has_symptom
+8eddc996dbe4c79af2420a2482929ff022d4f58e	@DISEASE$ (GCA) is a well-known cause of cranial @PHENOTYPICFEATURE$ often presenting with headache and jaw claudication.	has_symptom
+8bbf015601a1601322370e7eb3467be0a0053180	The noninfectious, inflammatory vasculitides include @DISEASE$, Takayasu disease, Churg-Strauss angiitis, Wegener disease, polyarteritis nodosa, microscopic polyangiitis, Buerger disease, amyloid-?-related angiitis, and isolated @PHENOTYPICFEATURE$ of the central nervous system.	has_symptom
+73c972260739d82bdd5538b1687ff71bef7211c2	The search used keywords referring to procalcitonin and systemic lupus erythematosus, antineutrophil cytoplasmic antibody-associated systemic @PHENOTYPICFEATURE$, Goodpasture syndrome, rheumatoid arthritis, and @DISEASE$.	has_symptom
+e07150314a40cba074e37f3fc7cc6096988ed029	@DISEASE$ in Bahraini children is phenotypically severe, this is inferred from early age of presentation (mean of 2 months +/- 1 month) and early age of diagnosis (mean 4 +/- 1 month), development of pancreatic insufficiency by 1 year of age in all of the study patients, @PHENOTYPICFEATURE$ in 96 per cent of the patients, hypoalbuminemia in 48 per cent, meconium ileus in 20 per cent, progressive lung disease in 84 per cent at an early age, and early colonization with Pseudomonas aeruginosa.	has_symptom
+3bab9385a04b2e65efdfa65b84e5f8ca91bf6dc0	@DISEASE$ (CF) in infancy and childhood is often associated with @PHENOTYPICFEATURE$ (FTT).	has_symptom
+834d0c599fb2b4e7484d84fcf18787bbc9356d38	We report a 2-8/12 year-old male who presented with symptoms resembling @DISEASE$ (@PHENOTYPICFEATURE$, developmental delay and recurrent diarrhea) and had elevated sweat chloride concentration.	has_symptom
+c3689cbf1305c4a45d40f1775e8043e63abda1f4	Mice homozygous for the disrupted gene display many features common to young human @DISEASE$ patients, including @PHENOTYPICFEATURE$, meconium ileus, alteration of mucous and serous glands, and obstruction of glandlike structures with inspissated eosinophilic material.	has_symptom
+cfdff58672ef3a6767a799da8de10d264bfe7c95	Eight of 40 newly diagnosed infants with @DISEASE$ seen over a 24 month period had significant gastroesophageal reflux, characterized by vomiting (7 infants), recurrent pneumonia (7 infants), and @PHENOTYPICFEATURE$ (4 infants).	has_symptom
+b5e693fc5504820e249a94a0b293bc9476362637	MCT fat should be included in the standard dietary regimen used in the management of any child with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+8c03233bf53b5135e013b9a346d24d89703f956a	We report a case of an infant who presented with @PHENOTYPICFEATURE$ and in whom the identification of calcified scrotal masses led us to the diagnosis of @DISEASE$.	has_symptom
+f183b42af786f9f4b5b3b8f491aeec6e679c2bad	Six groups were studied, including patients with @PHENOTYPICFEATURE$ without diarrhea, with diarrhea without malabsorption, with diarrhea with malabsorption, with @DISEASE$, and with constipation, and controls.	has_symptom
+2926d196b00b0d41c636edcadb5d1783a35375a3	A girl with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c30581b3956cabaeb667e8645d3deab52f5d9c27	Meconium ileus (MEC), @PHENOTYPICFEATURE$ (FTT), and a combination of FTT and pulmonary symptoms (COMB) are the most frequent symptoms of @DISEASE$ (CF) at the time of diagnosis.	has_symptom
+2d33396f7349828fdbcf4fcb343c9ba24f082f69	had a final diagnosis, including succinic semialdehyde dehydrogenase (SSADH) deficiency (n=4), aromatic amino acid decarboxylase (AADC) deficiency (n=4), L-@DISEASE$ (n=3), glycine encephalopathy (n=2), pyridoxal-phosphate-dependent @PHENOTYPICFEATURE$ (n=l), cerebral folate deficiency (n=1), and serine biosynthesi defect (n=1).	has_symptom
+1452fbb58acb25caf60c12c0d4475ec7c8404f4b	The efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic @PHENOTYPICFEATURE$ in @DISEASE$ type I (NF-1) is unknown.	has_symptom
+c3e788f6d426a0b0cbd0accf3e0132569097695d	Does spinal deformity correction of non-dystrophic scoliosis in @DISEASE$ type I with one-stage posterior pedicle screw technique produce outcomes similar to adolescent idiopathic @PHENOTYPICFEATURE$?	has_symptom
+e58bdb33758c73e0c84ab85cd0b214c7ce4f4250	Does spinal deformity correction of non-dystrophic @PHENOTYPICFEATURE$ in @DISEASE$ type I with one-stage posterior pedicle screw technique produce outcomes similar to adolescent idiopathic scoliosis?	has_symptom
+023195af3c7fa51df4655b98416edebab17804c9	@DISEASE$ (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder characterized by mucocutaneous and visceral vascular dysplasia associated with frequent episodes of @PHENOTYPICFEATURE$ and gastrointestinal bleeding.	has_symptom
+45da3ca1b3a5588f1754f25d2265577175db13d5	A patient with @DISEASE$ was admitted with hematuria and severe anemia after mild recurrent episodes of @PHENOTYPICFEATURE$.	has_symptom
+d3151fa36d2c63251a112d82113cbebf2bd23b85	By recognizing the significance of even mild, infrequent epistaxis in a child with a family history of HHT, and understanding that not all @DISEASE$ patients have @PHENOTYPICFEATURE$ during childhood, community providers and otolaryngologist can assist in the early detection of HHT.	has_symptom
+7cfcc0045daf08dacf7a72e1dadab87c67c39032	Hereditary hemorrhagic telangiectasia (@DISEASE$) is characterized by recurrent spontaneous @PHENOTYPICFEATURE$, mucocutaneous telangiectases, and multisystem arteriovenous malformations (AVMs).	has_symptom
+1e2d01aefb6805ea23103937142e33696d7afffd	@DISEASE$ (HHT) is characterized by recurrent spontaneous @PHENOTYPICFEATURE$, mucocutaneous telangiectases, and multisystem arteriovenous malformations (AVMs).	has_symptom
+6faa34ef9eea0753ccd8ba3690f1b008d9a027fa	The clinical diagnosis of @DISEASE$ was confirmed on the basis of recurrent spontaneous @PHENOTYPICFEATURE$, multiple typical mucocutaneous telangiectasia, and the presence of pulmonary arteriovenous malformation.	has_symptom
+dce55394cd85589f2fff44ea3eadad861ac28441	A 42-year-old woman with @DISEASE$ presented with frequent episodes of @PHENOTYPICFEATURE$.	has_symptom
+9dc1dd9b5c6505f149fc2b7021e90e2d70187e8b	@DISEASE$ (HHT) is characterized by frequent severe bleeding, particularly @PHENOTYPICFEATURE$, and life-threatening complications including stroke, brain abscess and heart failure.	has_symptom
+df12c8c6fc1b7828cbb1afd4ab78964863fb03e9	Hereditary hemorrhagic telangiectasia (@DISEASE$) is characterized by frequent severe bleeding, particularly @PHENOTYPICFEATURE$, and life-threatening complications including stroke, brain abscess and heart failure.	has_symptom
+bb97b6711f64bd0493a6011cb064051f72f9dbc7	@DISEASE$ (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and @PHENOTYPICFEATURE$.	false
+cff34d76197e36614021838bcd190db2cf372ca1	Hereditary hemorrhagic telangiectasia (@DISEASE$) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and @PHENOTYPICFEATURE$.	false
+7312a3fac4b2a0c3c6e0df1ca6c2838342872bcf	Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly @DISEASE$, and life-threatening complications including stroke, brain abscess and @PHENOTYPICFEATURE$.	false
+eaaf4f039eb4dacb3f6c914a873e4e7f2b174e68	He had a family history, habitual @PHENOTYPICFEATURE$, and oral telangiectasia and was diagnosed as @DISEASE$ (hereditary hemorrhagic telangiectasia:HHT).	has_symptom
+574ec9688a76090556c152ecda4c937d1ac644f0	He had a family history, habitual @PHENOTYPICFEATURE$, and oral telangiectasia and was diagnosed as Rendu-Osler-Weber disease (@DISEASE$:HHT).	has_symptom
+164e2699941c9a5f0d4890345f5c31edbb77e948	@PHENOTYPICFEATURE$, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: a new entity or @DISEASE$?	has_symptom
+f60721ac8480ecb61d07af0de0da4af31eb965e8	@DISEASE$, facial anomalies, @PHENOTYPICFEATURE$, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?	false
+a2ff4301aad9040eb51a02d82db7ab6e7b2f44e3	Mental retardation, @DISEASE$ anomalies, @PHENOTYPICFEATURE$, cerebral angiomas, femoral nucleus necrosis: a new entity or Hall-Riggs syndrome?	false
+a06901c237de72c3891610e9d99442df8b7bd76a	Mental retardation, facial anomalies, @PHENOTYPICFEATURE$, cerebral angiomas, femoral nucleus necrosis: a new entity or @DISEASE$?	false
+119c242f3fe0b6e2312846e14270748fc946746d	@DISEASE$ (USH2) is the predominant form of USH, a leading genetic cause of combined deafness and @PHENOTYPICFEATURE$.	has_symptom
+dc1094b7299080a1736a05074cd80cb56b023aca	@DISEASE$ (USH2) is the predominant form of USH, a leading genetic cause of combined @PHENOTYPICFEATURE$ and blindness.	false
+57d05ccdfd1dfe8dbfd69a6cb84c2833185dd76f	Usher syndrome type 2 (USH2) is the predominant form of USH, a leading genetic cause of combined @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fc66b34aeacca008cbdab47b75cced0163e1472a	One patient had two syndromes, @PHENOTYPICFEATURE$ and schwannomatosis, and another @DISEASE$ patient had a father with a retinoma.	has_symptom
+128913e05cfee45b9f0c26c64e1611e64ca35d51	Upregulation of microRNA-132 in @PHENOTYPICFEATURE$ promotes cell proliferation via @DISEASE$ 1 targeting.	false
+7bba7b6675b2fab1ccaa5b121a36a6b93bcc0c36	In this review we consider the current state of knowledge regarding the potential role and underlying mechanism of circRNAs in ocular diseases including pterygium, @PHENOTYPICFEATURE$, glaucoma, diabetic retinopathy, retinoblastoma, retinal vascular dysfunction and @DISEASE$ induced ocular diseases, emphasizing that circRNAs could be promising biomarkers for the diagnosis and prognosis evaluation.	false
+d75ef9109c62c7cf77ee14d83740394cec476940	In this review we consider the current state of knowledge regarding the potential role and underlying mechanism of circRNAs in ocular diseases including pterygium, @PHENOTYPICFEATURE$, glaucoma, diabetic retinopathy, retinoblastoma, retinal vascular dysfunction and hyperhomocysteinemia induced ocular @DISEASE$, emphasizing that circRNAs could be promising biomarkers for the diagnosis and prognosis evaluation.	false
+9489dac12422f9114458e536d950452ea5fbbe70	In this review we consider the current state of knowledge regarding the potential role and underlying mechanism of circRNAs in ocular diseases including pterygium, @PHENOTYPICFEATURE$, glaucoma, diabetic retinopathy, @DISEASE$, retinal vascular dysfunction and hyperhomocysteinemia induced ocular diseases, emphasizing that circRNAs could be promising biomarkers for the diagnosis and prognosis evaluation.	false
+bba9c61a993ebdf0a1ad18cad0b7463add25fbd4	The molecular basis of this G1 arrest is thought to be due to a DNA damage response, resulting in accumulation of the cyclin dependent kinase (Cdk) inhibitors p21 and p16 that block the inactivating phosphorylation of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor pRb, thereby preventing DNA replication.	false
+e1873c21c16ad9c77399a1a12f104563d64418b8	Moreover, we analyze how oncogenic proteins like phosphoinositide-3-kinase, AKT, and RAS, @PHENOTYPICFEATURE$ suppressors such as phosphatase and tensin homolog, @DISEASE$, and p53, as well as other factors associated with the proliferation or survival of cancer cells, such as NF-?B, regulate cellular metabolism.	false
+3eda13f15be487c94ec945ea4fb41111cf7a3024	Moreover, we analyze how oncogenic proteins like phosphoinositide-3-kinase, AKT, and RAS, @PHENOTYPICFEATURE$ suppressors such as phosphatase and tensin homolog, retinoblastoma, and p53, as well as other factors associated with the proliferation or survival of @DISEASE$ cells, such as NF-?B, regulate cellular metabolism.	false
+32dd99766604adbe7deaaa1dacefedd629403121	Retinoblastoma (RB) is an inherited childhood @DISEASE$ caused by mutations in the @PHENOTYPICFEATURE$ suppressor RB1 gene.	false
+37e35106780daf3a85ff1bfd73eb23b989be64c5	Retinoblastoma (RB) is an @DISEASE$ childhood ocular cancer caused by mutations in the @PHENOTYPICFEATURE$ suppressor RB1 gene.	false
+e160fbbb04835fa7bc16c7c2f490075f58597043	@DISEASE$ (RB) is an inherited childhood ocular cancer caused by mutations in the @PHENOTYPICFEATURE$ suppressor RB1 gene.	false
+4dc35b6e1ffc25f52338eac45d794095f3ed6e85	Classical @DISEASE$ (GHIS) comprises a dysmorphic phenotype, extreme @PHENOTYPICFEATURE$ (height SDS < 3), normal GH and low IGF-I and IGFBP-3.	has_symptom
+40d5c5552c09573406191247788cefad9c4e6a05	One hundred and ninety-eight subjects [including normal subjects; subjects with @DISEASE$, GH deficiency (GHD), and idiopathic @PHENOTYPICFEATURE$ (ISS); and heterozygotes for the E180 splice GH receptor mutation] were randomized to self-administration of either a high (0.05 mg/kg x d) or a low (0.025 mg/kg x d) dose of GH for 7 d.	has_symptom
+34cccff19250ff56a7978324a0356549e59934ce	@DISEASE$ (GHIS) is characterized by extreme @PHENOTYPICFEATURE$ and resistance to the actions of growth hormone (GH).	has_symptom
+9959d24d248f5713a062912414c40d8036ac54a8	Four prepubertal boys age 6.1-9.8 years with @PHENOTYPICFEATURE$ due to @DISEASE$.	has_symptom
+99f22677df99e91cfb036adc7585c121b48473b5	A retrospective review of patients with @DISEASE$ and idiopathic @PHENOTYPICFEATURE$ (ISS) diagnosed in our centre and followed up to the completion of linear growth.	has_symptom
+1e26e03a623a9c5d46fbf80501b22c51d1d0baa6	We conclude that, in addition to growth hormone deficiency and normal variant @PHENOTYPICFEATURE$, distal renal tubular acidosis and @DISEASE$ are significant causes of short stature in India.	has_symptom
+7e325969cf364aa8b4336d410486dccff12ed932	We conclude that, in addition to growth hormone deficiency and normal variant short stature, distal renal tubular acidosis and @DISEASE$ are significant causes of @PHENOTYPICFEATURE$ in India.	has_symptom
+83a0d3d12d669db5d49fed0f36d53d7a6527f023	GH insensitivity (@DISEASE$) syndrome caused by STAT5B mutations was recently reported, and it is characterized by extreme @PHENOTYPICFEATURE$ and immune dysfunction.	has_symptom
+68fac8a92d2756d25bd2bb8d4b8abbb71cdf6cfa	The child presented with a @DISEASE$ (DGA) associated with unilateral renal agenesis and @PHENOTYPICFEATURE$.	has_symptom
+af04341e64a28a61ce6f07932d3c412ef3a0d8c0	With the exception of overt hypothyroidism which appears to cause a bleeding tendency, the rest of the endocrinopathies discussed in this review (subclinical hypothyroidism, hyperthyroidism, endogenous hypercortisolaemia, growth hormone deficiency, acromegaly, @DISEASE$/hyperprolactinaemia and @PHENOTYPICFEATURE$) are associated with a hypercoagulable and hypofibrinolytic state, increasing the overall cardiovascular risk and thromboembolic potential in these patients.	has_symptom
+b2a7fda38c2d71165c7e1e076a24964d38082a06	With the exception of overt hypothyroidism which appears to cause a bleeding tendency, the rest of the endocrinopathies discussed in this review (subclinical @DISEASE$, hyperthyroidism, endogenous hypercortisolaemia, growth hormone deficiency, acromegaly, prolactinoma/@PHENOTYPICFEATURE$ and hypogonadotrophic hypogonadism) are associated with a hypercoagulable and hypofibrinolytic state, increasing the overall cardiovascular risk and thromboembolic potential in these patients.	false
+0bfd83a3839582d8b8ec30c6d466a545fb3d4c35	With the exception of overt hypothyroidism which appears to cause a bleeding tendency, the rest of the endocrinopathies discussed in this review (subclinical hypothyroidism, hyperthyroidism, endogenous hypercortisolaemia, growth hormone deficiency, acromegaly, prolactinoma/@PHENOTYPICFEATURE$ and @DISEASE$) are associated with a hypercoagulable and hypofibrinolytic state, increasing the overall cardiovascular risk and thromboembolic potential in these patients.	false
+a2b51aceb9c20c690823a53bd6afed5721b65c97	With the exception of overt @DISEASE$ which appears to cause a bleeding tendency, the rest of the endocrinopathies discussed in this review (subclinical hypothyroidism, hyperthyroidism, endogenous hypercortisolaemia, growth hormone deficiency, acromegaly, prolactinoma/@PHENOTYPICFEATURE$ and hypogonadotrophic hypogonadism) are associated with a hypercoagulable and hypofibrinolytic state, increasing the overall cardiovascular risk and thromboembolic potential in these patients.	false
+f562b20e9be559cbdb0fbfd451aaea0e996e62b7	With the exception of overt hypothyroidism which appears to cause a bleeding tendency, the rest of the endocrinopathies discussed in this review (subclinical hypothyroidism, hyperthyroidism, endogenous hypercortisolaemia, growth hormone deficiency, acromegaly, @DISEASE$/@PHENOTYPICFEATURE$ and hypogonadotrophic hypogonadism) are associated with a hypercoagulable and hypofibrinolytic state, increasing the overall cardiovascular risk and thromboembolic potential in these patients.	false
+e6b739d72f54718a5fb22db236b4841dfed9ebe3	There were 10 patients with secondary amenorrhea due to hypothalamic dysfunction, eight with hypothalamic failure, eight with primary amenorrhea due to @PHENOTYPICFEATURE$, 19 with a @DISEASE$, and four with Sheehan's syndrome.	has_symptom
+eb4cd30e56bf244d697ddb7b7c7bc75531efb2de	@DISEASE$ is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, @PHENOTYPICFEATURE$, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull.	has_symptom
+b52c49003b4c28b61c71addd93cef5c39662b47e	@DISEASE$ (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and @PHENOTYPICFEATURE$ and retrognathism.	has_symptom
+e602126445d92274b0472cffb6207a6efd2f0014	Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant @PHENOTYPICFEATURE$, characterized by exophthalmos, a prominent forehead, and @DISEASE$ and retrognathism.	false
+04dbc10755882eea190a73ab1180ec9a752626d7	@DISEASE$ (MNS) is a rare congenital X-linked dominant @PHENOTYPICFEATURE$, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism.	false
+3bb95ee3fb8c64bb5855f2b5d1d9b0a61f225969	We report on a case of a young adult patient who experienced chronic dislocation, pain, and dysfunction of her temporomandibular joints related to both a severe bite dysfunction (@PHENOTYPICFEATURE$) and the underlying bony architectural disorder associated with @DISEASE$.	has_symptom
+bb9d90e95138daca99ed270a0fc50b811ab4fa28	@DISEASE$ (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include @PHENOTYPICFEATURE$.	has_symptom
+b113b23f8c478b6dd02d50632fa54fe185124733	This paper describes the case of a 13-year-old girl diagnosed with @DISEASE$ presenting with different forms of skeletal dysplasia, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, @PHENOTYPICFEATURE$, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies.	has_symptom
+b3e80ab424a1623dc41e9604d260b7011ce82a1e	This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of @PHENOTYPICFEATURE$, such as cranial @DISEASE$, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies.	false
+4cad15fbdc377ca97fc041a025c0025339ecb3a9	This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms of @PHENOTYPICFEATURE$, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, @DISEASE$, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies.	false
+18396fb9a27fb6b78e45cc5d7e7e2dab315f22d2	This paper describes the case of a 13-year-old girl diagnosed with @DISEASE$ presenting with different forms of @PHENOTYPICFEATURE$, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies.	false
+ff79cb5214850807e9fa659c67547372c8e94252	Biotin responsive @PHENOTYPICFEATURE$ and encephalopathy due to @DISEASE$.	has_symptom
+1dd80b058fe583f80ee93afcd9a49dbe0f3b1eb6	[@DISEASE$--a progressive metabolic disease in children with @PHENOTYPICFEATURE$ and ataxia].	has_symptom
+2789543b6a94e9d30f511a589162067d755b8dcd	[Biotinidase deficiency--a progressive @DISEASE$ in children with seizures and @PHENOTYPICFEATURE$].	false
+10983f8f7d46146d4ab0c4263f3803d1b9b6fe68	[@DISEASE$--a progressive metabolic disease in children with seizures and @PHENOTYPICFEATURE$].	false
+e4d07034c6066c0d607318451cba39768f445ae1	[Biotinidase deficiency--a progressive metabolic disease in children with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+bde0ab4a61c7380479b12eb0741166e52e14f8f5	@DISEASE$: A treatable cause of infantile @PHENOTYPICFEATURE$.	has_symptom
+c90c86ca6efa72be1832fcf4cd07ea1d937b390c	Biotinidase deficiency and a trial of biotin (5 to 10 mg) should be considered in infants less than 1 year of age with poorly controlled @PHENOTYPICFEATURE$, and @DISEASE$ should be included in the differential diagnosis of an infant or child with unexplained seizures.	has_symptom
+b050dbbc96a2226bca0e8dd32e51bba732163d23	@DISEASE$ and a trial of biotin (5 to 10 mg) should be considered in infants less than 1 year of age with poorly controlled @PHENOTYPICFEATURE$, and biotinidase deficiency should be included in the differential diagnosis of an infant or child with unexplained seizures.	has_symptom
+6cd9d7f9f85909a5ff66cb96ea3e2881ff6705f8	@DISEASE$ and a trial of biotin (5 to 10 mg) should be considered in infants less than 1 year of age with poorly controlled seizures, and biotinidase deficiency should be included in the differential diagnosis of an infant or child with unexplained @PHENOTYPICFEATURE$.	has_symptom
+259271d67085362ca133aba5d616a10f4d2f1de5	Biotinidase deficiency and a trial of biotin (5 to 10 mg) should be considered in infants less than 1 year of age with poorly controlled seizures, and @DISEASE$ should be included in the differential diagnosis of an infant or child with unexplained @PHENOTYPICFEATURE$.	has_symptom
+12657377557af1a2b70ca3a0c917bf1243396d69	Characterization of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+75341a4fd17c2666d8faf326a7501ad95623cf67	These include pyridoxine-dependent @PHENOTYPICFEATURE$, pyridoxal-phosphate-dependent seizures, folinic acid-responsive seizures, and @DISEASE$.	has_symptom
+4c10c09bfefcbeae67777d2ce89e05a17be94fa0	These include pyridoxine-dependent seizures, pyridoxal-phosphate-dependent @PHENOTYPICFEATURE$, folinic acid-responsive seizures, and @DISEASE$.	has_symptom
+0046db271c550ae7d21fcf9bd0e50afe6d92e69b	These include pyridoxine-dependent seizures, pyridoxal-phosphate-dependent seizures, folinic acid-responsive @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+073adbacbe1b1e3ad9ba74d3edd5443495d9f437	@DISEASE$ is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly @PHENOTYPICFEATURE$, hypotonia, and developmental delay.	has_symptom
+51ef495e7114381ef9db087336f03ddb85581470	Biotinidase deficiency is the primary biochemical defect in @DISEASE$ and an autosomal recessive disorder and characterized by @PHENOTYPICFEATURE$, ataxia, alopecia and skin rash.	has_symptom
+d852f2f3288d574c1b5afe208c6b08389e0139d6	@DISEASE$ is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by @PHENOTYPICFEATURE$, ataxia, alopecia and skin rash.	has_symptom
+986af8a4a7f0e697856c5f98012fc17468a9e157	@DISEASE$ is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by seizures, @PHENOTYPICFEATURE$, alopecia and skin rash.	false
+baa8233996863b5f5dd913acbbec5a1ac42addf1	Biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by @DISEASE$, @PHENOTYPICFEATURE$, alopecia and skin rash.	false
+b5b64f7e066eb785de3d28433a8619b122f15dc0	Biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by seizures, @PHENOTYPICFEATURE$, alopecia and @DISEASE$.	false
+3913d0b0d0befa76f1d83983e413d8d6734de687	Biotinidase deficiency is the primary biochemical defect in @DISEASE$ and an autosomal recessive disorder and characterized by seizures, @PHENOTYPICFEATURE$, alopecia and skin rash.	false
+fde668a6298c88a33b889ec3606b140eebc526cb	Children with @DISEASE$ and atypical seizures should receive a full electroencephalogram evaluation, as brain tumors continue to be on the differential for @PHENOTYPICFEATURE$ in this patient population.	has_symptom
+658fbce74ac9102a2ddd22b9a3988d4f070556ab	Children with @DISEASE$ and atypical @PHENOTYPICFEATURE$ should receive a full electroencephalogram evaluation, as brain tumors continue to be on the differential for seizures in this patient population.	has_symptom
+3842ec9f69167178f6952356d78a68b8e8ba3c93	@PHENOTYPICFEATURE$ are observed only in patients with profound @DISEASE$.	has_symptom
+10983f8f7d46146d4ab0c4263f3803d1b9b6fe68	[@DISEASE$--a progressive metabolic disease in children with seizures and @PHENOTYPICFEATURE$].	has_symptom
+bc55d46d28d2e38f8913b6c63e23f4620825c631	[Biotinidase deficiency--a progressive @DISEASE$ in children with @PHENOTYPICFEATURE$ and ataxia].	false
+1dd80b058fe583f80ee93afcd9a49dbe0f3b1eb6	[@DISEASE$--a progressive metabolic disease in children with @PHENOTYPICFEATURE$ and ataxia].	false
+d5277d5a12cda7fe159422cdf619465c9ba4ce2d	[Biotinidase deficiency--a progressive metabolic disease in children with @PHENOTYPICFEATURE$ and @DISEASE$].	false
+4ca0435567bce5f668b642082c8591dff2375ff0	Patients with severe @DISEASE$ (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, @PHENOTYPICFEATURE$, visual pathology, conjunctivitis, alopecia, and dermatitis.	has_symptom
+64534cb9057b83658e54bd97c47d3c1f7e22c4bb	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit @PHENOTYPICFEATURE$, psychomotor delay, deafness, @DISEASE$, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+a0cc54490c254b173b72df002339e2bd1b9b929b	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, @PHENOTYPICFEATURE$, ataxia, visual pathology, conjunctivitis, alopecia, and @DISEASE$.	false
+3ec1fea141a39bc9c417d10282fa35e68eb49da6	Patients with severe @DISEASE$ (BD), if untreated, may exhibit seizures, psychomotor delay, @PHENOTYPICFEATURE$, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+a7fc24e420a692ca43bf372ec0c8fe9b1b1cb38d	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, @PHENOTYPICFEATURE$, @DISEASE$, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+f294da147205ce0e847f99cc1551c0cfad17b3ab	Patients with severe @DISEASE$ (BD), if untreated, may exhibit @PHENOTYPICFEATURE$, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis.	false
+610fffec01bbce8f9819ec702e6b3f68daba0dcb	Patients with severe biotinidase deficiency (BD), if untreated, may exhibit @PHENOTYPICFEATURE$, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and @DISEASE$.	false
+67f50484b0bf80e4530d10c82dae7b5983d8b353	A 3-year-old male with @DISEASE$ presented with rash, @PHENOTYPICFEATURE$, and paraparesis and magnetic resonance imaging findings of myelopathy.	has_symptom
+73ea5690cf292338703a3ce1a6bef4eee3c075b4	@DISEASE$ is characterized clinically by skin rash, alopecia, seizures and @PHENOTYPICFEATURE$ and occasionally by candidiasis and developmental delay.	has_symptom
+8dc6cd74327125b9362a5c3eded0774f6ba034f2	@DISEASE$ is characterized clinically by skin rash, alopecia, @PHENOTYPICFEATURE$ and ataxia and occasionally by candidiasis and developmental delay.	false
+74eda8f1e1970a99534f96e8aa7f2cb2562500f7	Late-onset multiple carboxylase deficiency is characterized clinically by @DISEASE$, alopecia, @PHENOTYPICFEATURE$ and ataxia and occasionally by candidiasis and developmental delay.	false
+d7119ccd0e1b4fcc4c3c74aee54a1ea24a85f17f	Late-onset multiple carboxylase deficiency is characterized clinically by skin rash, alopecia, @PHENOTYPICFEATURE$ and @DISEASE$ and occasionally by candidiasis and developmental delay.	false
+fbdb01e8912e2c644381b2405fde6f7deea5d7d6	@DISEASE$ leads to a biotin-deficient state, with cardinal symptoms of @PHENOTYPICFEATURE$, alopecia, and skin rash presenting in infancy.	has_symptom
+c766c64ef6b211cf1bcc89311b1237cd4cb4e1d5	@DISEASE$ is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+85b436b3b5a0d7ccbf339d0536d33abfed8355a6	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to @PHENOTYPICFEATURE$, hypotonia, and @DISEASE$.	false
+5b4a8999d6672f690ba652539d55532291c07a28	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of @DISEASE$ and @PHENOTYPICFEATURE$ in addition to seizures, hypotonia, and ataxia.	false
+b6a0d7bfc276b8097bd9c9353947ef8c76bf5050	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and @PHENOTYPICFEATURE$ in addition to seizures, hypotonia, and @DISEASE$.	false
+cb918c0eb86bba8bffb2c7d6559f30ec25302642	@DISEASE$ is a disorder inherited autosomal recessively showing evidence of hearing loss and @PHENOTYPICFEATURE$ in addition to seizures, hypotonia, and ataxia.	false
+f7bbcf32f092a533eb77ee19bdceb067cbe6259c	@DISEASE$ is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to @PHENOTYPICFEATURE$, hypotonia, and ataxia.	false
+10d60ce8ae62609c57ffd0fd082ac1ed120b5e66	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of @DISEASE$ and optic atrophy in addition to @PHENOTYPICFEATURE$, hypotonia, and ataxia.	false
+3913d0b0d0befa76f1d83983e413d8d6734de687	Biotinidase deficiency is the primary biochemical defect in @DISEASE$ and an autosomal recessive disorder and characterized by seizures, @PHENOTYPICFEATURE$, alopecia and skin rash.	has_symptom
+986af8a4a7f0e697856c5f98012fc17468a9e157	@DISEASE$ is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by seizures, @PHENOTYPICFEATURE$, alopecia and skin rash.	has_symptom
+d7a8a93f20f0cc8925043498362179199eb4cc5b	Biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by @PHENOTYPICFEATURE$, @DISEASE$, alopecia and skin rash.	false
+b7ce57dd967fd8ee6469c68cc51f3e86c9913587	Biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by @PHENOTYPICFEATURE$, ataxia, alopecia and @DISEASE$.	false
+51ef495e7114381ef9db087336f03ddb85581470	Biotinidase deficiency is the primary biochemical defect in @DISEASE$ and an autosomal recessive disorder and characterized by @PHENOTYPICFEATURE$, ataxia, alopecia and skin rash.	false
+d852f2f3288d574c1b5afe208c6b08389e0139d6	@DISEASE$ is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by @PHENOTYPICFEATURE$, ataxia, alopecia and skin rash.	false
+8b9e50ef43274d1d16639b3d195ada3e49a65ea1	@DISEASE$ is characterized by severe neurological manifestations as hypotonia, lethargy, @PHENOTYPICFEATURE$, hearing loss, seizures and developmental retardation in its classical form.	has_symptom
+7db86fa95839b4db9d46d6794fb01fdc6cac7491	@DISEASE$ is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, @PHENOTYPICFEATURE$ and developmental retardation in its classical form.	false
+2d09b81f1df2d3d647319af57f05f88a92d01303	Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, @DISEASE$, @PHENOTYPICFEATURE$ and developmental retardation in its classical form.	false
+27c003af5eb9dd2fc8792831d5f35e3057ab58dd	Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, @DISEASE$, hearing loss, @PHENOTYPICFEATURE$ and developmental retardation in its classical form.	false
+f22ca439d88fd2a0503b96904a7c8ff528ecbd3b	The differential of acute and recurring @PHENOTYPICFEATURE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	has_symptom
+4ee3671c8a2374ee34eddb151084509080ce2e00	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and @DISEASE$.	false
+557a9d2e670dc1f39d40845879f8776055173a50	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+36c1373dcb0309cab7d74732b802e95fe145157c	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+a500462817173bf6af13db09c6eb609920415a1a	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, @DISEASE$ (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+8991b6786275d63c5588e41e900b2a33579a168e	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, @DISEASE$, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+f0dcb711168ddc1f3ee4d879dbb2be47a91a7548	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, @DISEASE$, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+c5d24f23bdfafd688784f97d822825b38c26e379	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+96ce6afe40ea6e1bf0be4ca13106aea79a7ccc43	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+7ffded346dcbcf4bd08ef11ae093787a50c7ed1d	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+b71c4245de23e69d751d53251d1289a3e3153b8b	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult @DISEASE$, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+166dd1e23c8aec7968a555793c153bd74d2808cf	The differential of acute and recurring @DISEASE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+a28a87095aae69a3a7980541821ffab7d477a729	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, @PHENOTYPICFEATURE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	has_symptom
+5f84acda7277046b24135a103f50bc20bebb9364	Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+647ea0921ae35a8187e60f89b9a4a08a1115f50e	Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @PHENOTYPICFEATURE$, short stature, @DISEASE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+da13b57d4b110ab4b5f74cdd1f881267a38228d2	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @PHENOTYPICFEATURE$, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+bfa29279e54bde569438570fe4b0af715e63c019	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, @PHENOTYPICFEATURE$, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+b2be215967323836bacaacc546c64d3bee385440	We predicted that among patients with amnestic mild @PHENOTYPICFEATURE$ (aMCI) and @DISEASE$ would be associated with increased neurobehavioral symptoms when assessed using a measure sensitive to frontal lobe integrity.	has_symptom
+1b542d8c57e16e2b704f62f3dd228a2ab5b6e710	Pigmented orthochromatic leukodystrophy (@DISEASE$) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders characterized by @PHENOTYPICFEATURE$, myelin loss, and axonal swellings.	has_symptom
+303345c298be0d810d2d526586a5714d4694d6d7	Pigmented orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (@DISEASE$) are rare neurodegenerative disorders characterized by @PHENOTYPICFEATURE$, myelin loss, and axonal swellings.	has_symptom
+cc890af1ec0c4719f3b4ea0ee756e30ff6dec4d1	@DISEASE$ (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders characterized by @PHENOTYPICFEATURE$, myelin loss, and axonal swellings.	has_symptom
+f291114efa3c449bdd8be0c308bcab72d1d6926b	Congenital hypothyroidism (CH), phenylketonuria (PKU), galactosemia (GAL) and @DISEASE$ (BD) are innate errors in metabolism that share varying degrees of @PHENOTYPICFEATURE$ (MR) as a common characteristic.	has_symptom
+23873eb070c6d9bfbd0ad1ad1cf3bcb01aeb02d0	@DISEASE$ (SLOS) is an @PHENOTYPICFEATURE$ syndrome caused by a defect in cholesterol biosynthesis with mutations in 7-dehydrocholesterol reductase (DHCR7).	has_symptom
+91920eeeb5fa7053ba20c1f554043beb0445b43b	It is concluded that this test of pituitary reserve is useful in the assessment of children with @PHENOTYPICFEATURE$ and in establishing the diagnosis of @DISEASE$ in adults.	has_symptom
+9a15044792e2e5e724e089cc63b04d80863a219b	Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, @PHENOTYPICFEATURE$, or combined @DISEASE$.	has_symptom
+3f4a47a6ae10fed03f332c1c59b7763f6ec1f040	Emotional deprivation and @PHENOTYPICFEATURE$ simulating idiopathic @DISEASE$.	has_symptom
+d624c34f47e2597b01c284ad037a629807e0ab8f	[Somatomedin activity in patients with short stature due to @DISEASE$ or constitutional-familial @PHENOTYPICFEATURE$].	has_symptom
+c065186a3de57abd7aab4581806638fb84be2b48	[Somatomedin activity in patients with @PHENOTYPICFEATURE$ due to @DISEASE$ or constitutional-familial growth retardation].	false
+42e0ed2aa446fe3f53a961ed2cb6bce9f7337c37	[Somatomedin activity in patients with @PHENOTYPICFEATURE$ due to hypopituitarism or constitutional-familial @DISEASE$].	false
+9624802779457cf319656e28576932b29e123b1b	Combined @DISEASE$ (CPHD) is an anterior pituitary disorder, commonly resulting in @PHENOTYPICFEATURE$.	has_symptom
+3f4a47a6ae10fed03f332c1c59b7763f6ec1f040	Emotional deprivation and @PHENOTYPICFEATURE$ simulating idiopathic @DISEASE$.	has_symptom
+2a33d661d0e961028f926a9ee56de7ad8b379bc5	We report a case of absent pituitary infundibulum and ectopic neurohypophysis in a 4-year-old patient presenting clinically with @DISEASE$ as well as heterotaxy syndrome complicated by global developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+a27c6330cdaef718d7d49d288bbdfac7edd9b3c2	Diagnosis and management of @PHENOTYPICFEATURE$ with special reference to the problem of @DISEASE$.	has_symptom
+58e85cf147fccbd31723211a599310ee860acf1e	Thirty-seven children and adolescents of several diagnostic entitites (constitutional @PHENOTYPICFEATURE$, diabetes mellitus and @DISEASE$) were tested with an i.v.	has_symptom
+4e1b98bbf4cea03b2a907d2c278b6ded3dde9698	A 11-year-old young girl was examined in emergency with a third left cranial nerve partial palsy associated with one- year duration history of @DISEASE$ with insipid diabetes and @PHENOTYPICFEATURE$.	has_symptom
+bc97b317d458799fee22f8313d993e15f5e2b5cc	A 11.5 month-old girl with recurrent episodes of @PHENOTYPICFEATURE$ and lactic acidosis was identified as having @DISEASE$.	has_symptom
+b8b37786d6975fc78fbb04e1e5c372b707639eb7	The following metabolic disorders lead to reactive hypoglycemia: leucinsensitive @PHENOTYPICFEATURE$, fructose intolerance, galactose intolerance, @DISEASE$.	has_symptom
+68ca590c100e0c40993b3db7cd98e98276d34adb	@PHENOTYPICFEATURE$ and lactic acidosis associated with @DISEASE$.	has_symptom
+247faf890e6e04c7f74b66c5756e876caf200884	Musculoskeletal effects of @DISEASE$ are common, including @PHENOTYPICFEATURE$, tetany and cramps.	has_symptom
+61420af27201763ddd55c71bcb274656718b1238	Patients with @DISEASE$ are usually diagnosed by chance or present with @PHENOTYPICFEATURE$, constipation, or tetanies due to hypokalemia and hypomagnesemia.	has_symptom
+054ac5e222fa4ae022027ce5bcb85fcffdcc3015	@PHENOTYPICFEATURE$ and sudden death @DISEASE$ occurred.	has_symptom
+68bdf4043eda84f859020554d370dd066dcb0404	Patients with light chain (AL) amyloidosis who present with severe @PHENOTYPICFEATURE$ due to cardiac involvement @DISEASE$ survive more than 6 months.	has_symptom
+efd403e65e546db6060303d6a93b94c378c2230d	Pulmonary sequestration is a rare congenital anomaly that can be asymptomatic or present with recurrent infections, respiratory symptoms, or @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+4dbfff794a690812a0767c70cf13ac0c944b8ffe	Congenital @DISEASE$ leads to skeletal abnormalities characterized by small bones, narrow spinal canal, and @PHENOTYPICFEATURE$.	has_symptom
+9e26f2ddfe98b47eea6b6361415584d7eeb7cf15	Congenital @DISEASE$ leads to @PHENOTYPICFEATURE$ characterized by small bones, narrow spinal canal, and delayed bone age.	false
+2de9a544659bcd35c9272f8ff5c5e427defee29c	Congenital IGF-1 deficiency leads to @PHENOTYPICFEATURE$ characterized by small bones, narrow spinal canal, and @DISEASE$.	false
+75b2f8ed4c86ce09899a9c631dbfd0e82654f181	@DISEASE$ and @PHENOTYPICFEATURE$; the first five years.	has_symptom
+c5d58f5adc67e49d86093fb0797b82cfa44c09a5	@DISEASE$, @PHENOTYPICFEATURE$, Hodgkin's disease and sarcoidosis.	has_symptom
+26e82e531795705ce3e677fba7d10cb663a66e5d	@DISEASE$ (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant @PHENOTYPICFEATURE$.	has_symptom
+e9f674d68295454a48ff65bdc852f9584f302587	Hypocomplementemic urticarial vasculitis (HUV) is a rare form of @DISEASE$ characterized by recurrent episodes of urticaria and painful, tender, burning or @PHENOTYPICFEATURE$ lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage.	false
+7c7f0054b23a2fed16d727401795336c7bb1db0f	@DISEASE$ (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or @PHENOTYPICFEATURE$ lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage.	false
+5b20de82a4103ebd1b250af11d4264cd04ce4a6e	Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or @PHENOTYPICFEATURE$ lesions, often associated with extracutaneous involvement but usually with no significant @DISEASE$.	false
+4274894f2500a8a168dd8ab859ed7aac6e123b43	@DISEASE$, a rare disorder typically presenting in early childhood with lower limb dystonia and @PHENOTYPICFEATURE$, responds well to levodopa.	has_symptom
+0ddc08cfe852405f263a05693195b5a4104c897e	Approximately 10% of @PHENOTYPICFEATURE$ cases are familial, but only 25-40% of @DISEASE$ cases can be attributed to germ-line mutations in the CDKN2A - the most significant high-risk melanoma susceptibility locus identified to date.	has_symptom
+773c6693cc249c8b413a01abaff63226a71fcd29	Retinoic acid syndrome is manifested by @PHENOTYPICFEATURE$, dyspnea, peripheral edema, pulmonary infiltrates, and pleural and/or pericardial effusions and is typically seen in conjunction with all- trans retinoic acid therapy of @DISEASE$.	has_symptom
+6252f91bdff420bd0e1ef16a7618d8467a9f2444	A 46 year old male with @DISEASE$ treated with all-trans retinoic acid (ATRA), developed @PHENOTYPICFEATURE$, bilateral erythematous nodules in his axillary area, lower abdomen and inguinal region.	has_symptom
+2a6024696616f2dd1e9158b9d547db04e7516da6	A 46 year old male with @DISEASE$ treated with all-trans retinoic acid (ATRA), developed fever, bilateral @PHENOTYPICFEATURE$ nodules in his axillary area, lower abdomen and inguinal region.	false
+9adfff6f90883bdd9d14071159170ba6e43146b5	A 46 year old male with acute promyelocytic leukemia treated with all-trans retinoic acid (ATRA), developed @DISEASE$, bilateral @PHENOTYPICFEATURE$ nodules in his axillary area, lower abdomen and inguinal region.	false
+7d95e99b2d172ac1e185993ee860afb1f7ae6ee6	Illustrative results from two different applications of these methods involving two different cell lines (human melanoma and @DISEASE$) are presented, including: 1) measurements of NM breakdown in necrotic and apoptotic cells after treatment with the cytotoxic agents camptothecin, etoposide, or @PHENOTYPICFEATURE$; and 2) detection of changes in NMP content immediately after heat shock.	has_symptom
+fd6e17ee238fee372415b791278d4030c65cb496	The treatment of @DISEASE$ with all-trans-retinoic acid (ATRA) sometimes results in a syndrome characterized by @PHENOTYPICFEATURE$, respiratory distress, weight gain, pleural and pericardial effusion, and pulmonary infiltrates.	has_symptom
+3390f5cf71bb4e4abe788ffca8d2132ad7d66bf0	The retinoic acid syndrome (RAS), described with all-trans-retinoic acid (ATRA) in patients with @DISEASE$, is characterized by @PHENOTYPICFEATURE$ and respiratory distress.	has_symptom
+65c2d77c2faa6488288495689797008d9b5c451f	Nine of 35 patients (26%; 95% CI, 9% to 52%) with @DISEASE$ who were treated with all-trans retinoic acid developed a syndrome consisting primarily of @PHENOTYPICFEATURE$ and respiratory distress.	has_symptom
+f51ee0deb42dded31361446d3bbd3d619162a7c5	Three children with @DISEASE$ from two unrelated families have @PHENOTYPICFEATURE$ due to telecanthus, antimongoloid slant of the palpebral fissures, broad nose, and tapering chin.	has_symptom
+89d3f9cbd82fe65ac12566a73ec1e870d78e4277	@DISEASE$, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, @PHENOTYPICFEATURE$, short stature, skin abnormalities and a predisposition for malignancy.	has_symptom
+a871a99368727e6766cbec5f591168edad5c5350	@DISEASE$, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, facial dysmorphism, @PHENOTYPICFEATURE$, skin abnormalities and a predisposition for malignancy.	false
+f24845292e7d6f014ee56610b51ed0536c8eabd1	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, facial dysmorphism, @PHENOTYPICFEATURE$, skin abnormalities and a predisposition for @DISEASE$.	false
+342a2437e8973bb4e973c63cb5bba09fc1a4dcb8	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, @PHENOTYPICFEATURE$, facial dysmorphism, short stature, skin abnormalities and a predisposition for @DISEASE$.	false
+b816f143a8925c5426fea274be82b5893fecf6ba	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, @PHENOTYPICFEATURE$, @DISEASE$, short stature, skin abnormalities and a predisposition for malignancy.	false
+f215a808da23adb8d31d32c58e292ad573b22149	@DISEASE$, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, @PHENOTYPICFEATURE$, facial dysmorphism, short stature, skin abnormalities and a predisposition for malignancy.	false
+b2b0b70d5a2929e488058ceb1639d9f05be0dc04	Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with variable degrees of psychomotor delay, congenital heart defects, @DISEASE$, @PHENOTYPICFEATURE$, skin abnormalities and a predisposition for malignancy.	false
+90a2b65e3fe113bee8184110ccba91b30c6d51a0	FISH studies performed with P1-9, P1-12, and a set of overlapping 1F10 cosmid clones mapping telomeric to the NF1 locus identified large deletions in two new @DISEASE$ patients who, like previously characterized deletion patients, had mildly @PHENOTYPICFEATURE$ and large numbers of cutaneous neurofibromas.	has_symptom
+2c2bdb78cf53e22f24d584aa7f285bc7b9a571e2	In a series of 64 patients with deep @PHENOTYPICFEATURE$ (14 with Descemet's tears, 8 with @DISEASE$, 12 with interstitial keratitis, and 30 with keratoconus), specular microscopy enabled the differentiation of deep corneal changes provided some degree of corneal clarity was retained.	has_symptom
+d4dbeef2da03127eb3b3dcf3ddc3baf0063f6cf7	In a series of 64 patients with deep corneal opacities (14 with Descemet's tears, 8 with @DISEASE$, 12 with interstitial @PHENOTYPICFEATURE$, and 30 with keratoconus), specular microscopy enabled the differentiation of deep corneal changes provided some degree of corneal clarity was retained.	false
+aaefa5ad9f40ec115802f77ccc7ef101cdd663c6	In a series of 64 patients with deep @DISEASE$ (14 with Descemet's tears, 8 with posterior polymorphous dystrophy, 12 with interstitial @PHENOTYPICFEATURE$, and 30 with keratoconus), specular microscopy enabled the differentiation of deep corneal changes provided some degree of corneal clarity was retained.	false
+031ec7d9c76d0d67dbd586e952f176718f99c4fa	@DISEASE$ (GS) is an autosomal-recessive condition characterized by hypokalemia, @PHENOTYPICFEATURE$ and hypocalciuria.	has_symptom
+7591e7e0865bcbe5723088ef4bf17a8cf88d8b3d	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being @DISEASE$, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, autosomal dominant hypomagnesemia with hypocalciuria, and autosomal recessive hypomagnesemia.	has_symptom
+6455b72e5fe2402c8197bea70c7b63409e84a05f	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being @DISEASE$, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary hypocalcemia, autosomal dominant hypomagnesemia with hypocalciuria, and autosomal recessive hypomagnesemia.	has_symptom
+3decad87aed4392380991f4fc838b91f20674d68	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being @DISEASE$, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary hypocalcemia, autosomal dominant @PHENOTYPICFEATURE$ with hypocalciuria, and autosomal recessive hypomagnesemia.	has_symptom
+17447ea30ac94a17d6ec5d31a752f18c31ebdd37	Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being @DISEASE$, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary hypocalcemia, autosomal dominant hypomagnesemia with hypocalciuria, and autosomal recessive @PHENOTYPICFEATURE$.	has_symptom
+3da7d9fd16d9da0bbdcb7d965dba5058f53d8ff0	@DISEASE$ (GS) is an autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis, @PHENOTYPICFEATURE$ and hypocalciuria.	has_symptom
+06443bda7f578f960819833cb451790d2721fea3	@DISEASE$ is a mostly autosomal recessive disorder affecting the renal tubular function associated with hypokalemia and @PHENOTYPICFEATURE$.	has_symptom
+ad5657e08e827e0b7a5cef5e6b771178b79462d4	Gitelman syndrome is a mostly autosomal recessive disorder affecting the renal tubular function associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fd7b83b4e485f6efbc943ef0e7ada88c04a37de5	@DISEASE$ is a mostly autosomal recessive disorder affecting the renal tubular function associated with @PHENOTYPICFEATURE$ and hypomagnesemia.	false
+2798f8fc9c513d68ad2ff8af5cce3fd4ae7920c5	[@DISEASE$: a rare cause of hypokalemia-@PHENOTYPICFEATURE$ in children].	has_symptom
+fc18d5045e72d1d55398a95dd8d40b1b37abbd49	[@DISEASE$: a rare cause of @PHENOTYPICFEATURE$-hypomagnesemia in children].	false
+f1ae83815685d268efb02b0e03920a4c6a3398c3	[Gitelman syndrome: a rare cause of @PHENOTYPICFEATURE$-@DISEASE$ in children].	false
+05eb3c75a8f6bcb7771ece4d652ab868b89d9a3a	@DISEASE$ is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, @PHENOTYPICFEATURE$ and hypocalciuria.	has_symptom
+b8161874c6b1924eb53acb50f381590a0fa9430c	@PHENOTYPICFEATURE$ and chondrocalcinosis in @DISEASE$.	has_symptom
+ec4d2770e8e494ea4aeb7b4852a1c5dc5439ec37	The primary clinical manifestations of @DISEASE$ are lower extremity weakness with hypokalemia and @PHENOTYPICFEATURE$.	has_symptom
+35f68ce038c13bacd13484dd700208d7c8467088	The primary clinical manifestations of @DISEASE$ are lower extremity weakness with @PHENOTYPICFEATURE$ and hypomagnesemia.	false
+492ba4d64abbf3428367d4e63331952dd84afe2d	The primary clinical manifestations of Gitelman syndrome are lower extremity weakness with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+31aeb333f3dbd3465c0ddee67806564099279d9d	Inactivating mutations in the thiazide-sensitive NaCl cotransporter cause @DISEASE$, featuring hypotension, hypokalemia, and metabolic alkalosis plus hypocalciuria and @PHENOTYPICFEATURE$.	has_symptom
+4c91555aa5d914692375438d8547422e2d59f58c	In isolated dominant @PHENOTYPICFEATURE$ and @DISEASE$, an abnormality in the distal convoluted tubule explains the primitive hypomagnesemia, through renal leaking.	has_symptom
+68c28a77fd429a4cb2896a06cd18d8a0e6cb92db	@DISEASE$ is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, @PHENOTYPICFEATURE$, and early hypoglycemia.	has_symptom
+6f9b7c212028f77a075c023b1d8d720342b3a5da	@DISEASE$ is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, severe short stature, and early @PHENOTYPICFEATURE$.	false
+611bdcc2a4bf7f2862a2a559c03f65751291d9ba	Laron syndrome is caused by a mutation in the growth hormone (GH) receptor and manifests as insulin-like growth factor-I (IGF-I) deficiency, @DISEASE$, and early @PHENOTYPICFEATURE$.	false
+2d4cba785bd2c0a34e016b2f18be58b1dcf50eca	GH insensitivity syndrome (GHIS), @DISEASE$, is characterized by @PHENOTYPICFEATURE$, high serum GH levels, and very low serum IGF-I and IGF-binding protein-3 (IGFBP-3) levels associated with a genetic defect of the GH receptor.	has_symptom
+cc296a9eaf9cfa0392003fc7a2ff941528c7345b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+022962f1dfd9b24eeaa9ee06af7d4b666f9bb813	Macular location and International classification of @DISEASE$ group C and D predicted poor visual acuity, while previous radiotherapy predicted foveal thinning, which was associated with @PHENOTYPICFEATURE$.	has_symptom
+27fc798ed5c6bd801c6af9bdd5f0cf89fcd4fd1b	Symptoms of @DISEASE$ are strabismus, @PHENOTYPICFEATURE$ and red eye, but the absolutely most important sign is leukokoria (white pupillary reflex).	has_symptom
+5aaddbfb855cf663d8d1f97f34ddeb39b1655551	A literature review identified several anecdotal reports of @DISEASE$ associated with hypertension, @PHENOTYPICFEATURE$ and/or midaortic syndrome.	has_symptom
+f3e9d38996df98627e419162b01e307e6eae8a23	We report the clinical and radiological presentation of five adult patients with @DISEASE$, hypertension and @PHENOTYPICFEATURE$.	has_symptom
+66d0ae0657c2de806cec9af995828afc3c96b9e5	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's @DISEASE$ have been elucidated.	has_symptom
+0a9c03bc8214e8ccd6ddeb66c5cf3fa0cb5ff04a	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's @DISEASE$ have been elucidated.	has_symptom
+b07cde45e3e0f1ed02d997af288d3d7a0ed52129	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as @DISEASE$, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+2564f933560960e4fbfc69f2074ea8fe604cc546	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, @DISEASE$, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+f1e228a8abd280e1e826d3993f6b44df3d402176	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, @DISEASE$ ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+0544c9cb88e896b262b20d6374505a352f9120e7	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and @DISEASE$, and Leber's hereditary optic atrophy have been elucidated.	false
+977c8dc2123cd1b2130efa99fe1df5b6757551c0	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy @DISEASE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+033465d204fe385aa3b05c3e866a38d0489425e2	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @DISEASE$, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+9c351f4c1009b3da6ee30c61587c8cf69b2e5def	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, @DISEASE$, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+50f3e8d34ba7d8eaba75adacc15a09c51f285420	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's @DISEASE$ have been elucidated.	false
+527ad3b3a7bd4e7b4de369607015f0bc83a3f70e	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, @DISEASE$, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+f8cccf39373b26832719434b9a40bb2d24af828e	Cyanide toxicity of dietary origin has been implicated in acute animal deaths and as major etiologic factors in toxic @PHENOTYPICFEATURE$ neuropathy in man and as a cause of vision failure in humans suffering from tobacco amblyopia and leber's @DISEASE$.	has_symptom
+f8cccf39373b26832719434b9a40bb2d24af828e	Cyanide toxicity of dietary origin has been implicated in acute animal deaths and as major etiologic factors in toxic @PHENOTYPICFEATURE$ neuropathy in man and as a cause of vision failure in humans suffering from tobacco amblyopia and leber's @DISEASE$.	has_symptom
+7b8d1848a242ffe4feaae937bb5bec7a4eca8ad3	The 8993 T>G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (@DISEASE$) to neuropathy, @PHENOTYPICFEATURE$, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients.	has_symptom
+cb453e5c0a4a9994393761f8c9c9db865321dab6	The m.8993T>G mutation of the mitochondrial MT-ATP6 gene has been associated with numerous cases of neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosa (NARP) and maternally inherited Leigh Syndrome (@DISEASE$), which are diseases known to result from abnormalities affecting mitochondrial energy production.	has_symptom
+62cf53bc1c9d283d3c955ce2f184e6703776efd2	These include NARP (neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosa), MILS (@DISEASE$), and FBSN (familial bilateral striatal necrosis).	has_symptom
+0df33a851035d28d4dd8d21e063297ad277d9e45	Mutations in mitochondrial DNA (mtDNA) encoded nucleotide 8993 can cause NARP syndrome (neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosa) or MILS (@DISEASE$).	has_symptom
+9cda2c5009eecd2827e13f35f4e52829027efe3a	To verify whether enhanced substrate-level phosphorylation increases viability and adenosine 5'-triphosphate (ATP) content of cells with neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosa/@DISEASE$ (NARP/MILS) mitochondrial DNA mutations and ATP synthase dysfunction.	has_symptom
+2f8c2d669cfe0ac689a26f6cd0c99358c8fcb219	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS), neuropathy, @PHENOTYPICFEATURE$, retinitis pigmentosa-@DISEASE$ (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	has_symptom
+b824b26318f67f03b6575f2ff225535d1e950281	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS), neuropathy, @PHENOTYPICFEATURE$, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-@DISEASE$), and Leber's hereditary optic neuropathy (LHON).	has_symptom
+5e92f433ca889a897ec5b7b102b42fe75bba2ded	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and @DISEASE$ (LHON).	false
+a26a92f531a58c60c9ace6f93a24656a90ba275f	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-@DISEASE$), and Leber's hereditary optic neuropathy (LHON).	false
+8f100eb6804c0a96570a68d6fb7a4abd936daa61	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-@DISEASE$ (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+20a05aaf0f088f96083153fcc7067476a98dc61f	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), @DISEASE$, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+83225bc5d60cba96f1ac17f5bc8e2fb11633f3a1	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, @DISEASE$, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+803fc39bae86b88a35cc106140f2807c518a880b	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, @DISEASE$-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+e6e129c1bf568d79cd028f77413534ef5f84ac53	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+73b3afb2e0568e368d5fba1b0ff5d0f87286ed60	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited @DISEASE$, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+2178855677c7d58ab0c01e38d4627ecb627dffe9	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (@DISEASE$).	has_symptom
+aa252d733d9ebb46b40368d8fb1e7a850278362a	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic @PHENOTYPICFEATURE$, @DISEASE$, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (MILS).	false
+a92764bea67fe0054e539a374bb834359acd48fa	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (@DISEASE$).	false
+acd865214221141a1d29cb0393bee3fbf0a4ef83	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic @PHENOTYPICFEATURE$, ataxia, and @DISEASE$ (NARP) and maternally inherited Leigh's syndrome (MILS).	false
+0190dc9d20a9f2f9447236a669d89592dd161df9	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh's @DISEASE$ (MILS).	false
+1a6498910372261f2b1dd313bc7822c62adc6a05	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (myoclonic epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/@DISEASE$ (neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosum/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	has_symptom
+b9d8bfab86faf00fdb2003784bcb04d158d6b118	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (myoclonic epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, @PHENOTYPICFEATURE$, and retinitis pigmentosum/@DISEASE$) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	has_symptom
+32b543d52cf4957aea9a693bf49453d742ef7b5e	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (@DISEASE$/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, ataxia, and retinitis pigmentosum/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+edd3d2188c3b0a09d884fef91807d7517bfcfbc7	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/@DISEASE$ (neuropathy, ataxia, and retinitis pigmentosum/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+b38c7ec78f923f171cd16fcb1db45a58fe26a82c	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, @DISEASE$, and retinitis pigmentosum/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+d1b45ef4695ea3dac34df6cd4d9fff94c58cb00d	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (@DISEASE$, ataxia, and retinitis pigmentosum/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+8b7619304537505a8d137bd0bddf1d052b5e6f78	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, ataxia, and @DISEASE$/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+f9e3b41436a082827bacf05eaedafa687572ec6d	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, ataxia, and retinitis pigmentosum/@DISEASE$) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+a704cf5cb946987a62b9d25d82021685909e0d53	Genetic analyses of the whole mtDNA for maternally inherited LS (@DISEASE$) and neuropathy @PHENOTYPICFEATURE$ retinitis pigmentosa (NARP) syndrome failed to reveal any pathogenic mutations.	has_symptom
+e3ba630974700de5dc9024fd28d2931268c1c1af	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with @DISEASE$ and/or with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa.	has_symptom
+b7c1eb101715d55a3093e819835c3e9385c817af	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with maternally-inherited Leigh syndrome and/or with neurogenic @PHENOTYPICFEATURE$, @DISEASE$ and retinitis pigmentosa.	false
+340beaae41cd5d807d376c63fa153b1bf97cfa79	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with @DISEASE$ and/or with neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa.	false
+fa01455561fd9804c5877c36217fec8b241ba7f1	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with maternally-inherited Leigh syndrome and/or with neurogenic @PHENOTYPICFEATURE$, ataxia and @DISEASE$.	false
+fe4ab1a690aa2c616c977bfaefae95b63d89cfb9	Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+ae310d42df14831483d5fbbe45a8881df664f623	The deficiency in @DISEASE$ patients can also be accompanied by other distal limb anomalies including polydactyly and/or @PHENOTYPICFEATURE$.	has_symptom
+cb58b85e86798fbd13f1a6d88ea18659b70ba178	The deficiency in SHFM patients can also be accompanied by other distal @PHENOTYPICFEATURE$ including polydactyly and/or @DISEASE$.	false
+1c6e47ca93ac4b56d30e69b63ba54c33f7fdda8e	The deficiency in @DISEASE$ patients can also be accompanied by other distal @PHENOTYPICFEATURE$ including polydactyly and/or syndactyly.	false
+11477d5d2a6f8b67eb337566b1806cc888de4c03	The deficiency in SHFM patients can also be accompanied by other distal limb anomalies including @PHENOTYPICFEATURE$ and/or @DISEASE$.	false
+2456517001e20ba2fb3517e2bef63cd1fc7fd8b2	The deficiency in @DISEASE$ patients can also be accompanied by other distal limb anomalies including @PHENOTYPICFEATURE$ and/or syndactyly.	false
+d98d7feadb8f1f0e4adaea4cf5905fcf57b1ffb3	Dysmorphic choroid plexuses and @PHENOTYPICFEATURE$ associated with increased nuchal translucency: early ultrasound markers of de novo @DISEASE$ type II with cloverleaf skull (Kleeblattschaedel).	has_symptom
+14e1303431969bb8e81d8ecc1f84aef58c9f12eb	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, @PHENOTYPICFEATURE$, spina bifida, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, @DISEASE$, and Pena-Shokeir syndrome.	has_symptom
+25cfc0442d9c6848d931aa4f909ac88e1637882e	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), @DISEASE$, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+90f1ff4ba3cbb629d42eb4c2d11edb0b0fcec970	We have used xeroradiography to study normal and abnormal fetuses including some with @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+a304c06cea82d72701e08b9adb84851f1f24ea73	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, @DISEASE$, and Pena-Shokeir syndrome.	false
+beb15f9298af41ef81f22b937745d89cdf513472	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-@DISEASE$.	false
+b751b17a03f3267b5214c1458898c83e159b4a0b	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, @DISEASE$, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+d94d5f448e6e9b24d85e1f75fc3377681b0ed61b	@DISEASE$ with cloverleaf skull is a congenital anomaly characterized by a bizarre form of @PHENOTYPICFEATURE$ and a uniformly fatal, shortlimbed chondrodysplasia.	has_symptom
+b4da4582c4522227cdbf8d05b0ca6339897f3df2	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, @PHENOTYPICFEATURE$, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral cataract.	has_symptom
+0cca35a94b070f737a205214e0e3019bb739c7ba	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), @PHENOTYPICFEATURE$, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral cataract.	false
+85caed29279d52a4ce76942d356b70f60df91b5c	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, @DISEASE$, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral @PHENOTYPICFEATURE$.	false
+d37f6f3fc2c53397d4c2e918dfcac4c5e85b18e2	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), @PHENOTYPICFEATURE$ (2), syndactyly, distal extremely hemimelia, @DISEASE$, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract.	false
+01468b5a4c42eb53fb7d590f970988043a6a1401	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, @DISEASE$, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral @PHENOTYPICFEATURE$.	false
+dd2e53979dd560abd436bd007b98b943b47d87cf	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), @PHENOTYPICFEATURE$ (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral cataract.	false
+9cd1add74e397d447575168335bff6efc9024c7d	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral @PHENOTYPICFEATURE$.	false
+cac0dc70586c7a5943200c0daadefe3084002686	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), @PHENOTYPICFEATURE$, distal extremely hemimelia, anencephaly, @DISEASE$, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract.	false
+dc8669a4bffb96aa7fad2fe33de841ea8f4f5161	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), @PHENOTYPICFEATURE$ (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, @DISEASE$, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract.	false
+23c0e7c046835628440ca7709e19babe6bc59fcd	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), @PHENOTYPICFEATURE$ (2), syndactyly, distal extremely hemimelia, anencephaly, @DISEASE$, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract.	false
+264a06326f4f4355259dd4fa8a784372bdc4a972	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, @DISEASE$, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral @PHENOTYPICFEATURE$.	false
+3e7086c8e50286e1ff83fe18132edacfcf564abc	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), @PHENOTYPICFEATURE$, distal extremely hemimelia, anencephaly, hydrocephalus, @DISEASE$, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract.	false
+f6a735bb36f909f62ee3080b5f0a89e503e86b48	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), @PHENOTYPICFEATURE$, distal extremely hemimelia, @DISEASE$, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract.	false
+fdbafc99e32b22883a4fe7ad4040516633a8d792	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and @PHENOTYPICFEATURE$.	has_symptom
+7ab2bf855e3d7ba2431a97bafebeb98d37b20c46	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @PHENOTYPICFEATURE$, anosmia/hyposmia, and hypogonadotropic hypogonadism.	false
+6279a9475bb91908e527bfa4563455b9f86eab36	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, @PHENOTYPICFEATURE$/hyposmia, and @DISEASE$.	false
+a7ec73c3d863207bd195f9f3e22380a443e05f18	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @PHENOTYPICFEATURE$, anosmia/hyposmia, and @DISEASE$.	false
+6a273a590f4b4207d86f3f7acc4a76cf30569ec9	@DISEASE$ (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, @PHENOTYPICFEATURE$/hyposmia, and hypogonadotropic hypogonadism.	false
+bd5b93a9e5c0d384075f2ca0aef695fa13d13583	One patient additionally had @DISEASE$, the other @PHENOTYPICFEATURE$ and dementia.	has_symptom
+042d22c3c703df743ba43ab64afea9413a34f267	Three siblings developed childhood-onset @DISEASE$, followed by @PHENOTYPICFEATURE$ and ataxia.	has_symptom
+13649e32f21578603a61a30c94df692a0e32776b	Three siblings developed childhood-onset optic atrophy, followed by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a181b83ad47e4ca8fd573e478a11d5b1f5655788	Three siblings developed childhood-onset @DISEASE$, followed by spasticity and @PHENOTYPICFEATURE$.	false
+87a05aebf9083d227b0ebe053b6f79dc93b8d10e	Some had @DISEASE$, vocal cord paralysis, or @PHENOTYPICFEATURE$.	has_symptom
+942cdda138e67bcc85b8ad9f4b9f709b987a592c	Gait disturbance, limb @PHENOTYPICFEATURE$, cerebellar signs, and @DISEASE$ are other common features associated with INAD.	has_symptom
+c6ce470c921c4ac6e451d661a6190cab952d8019	Gait disturbance, limb spasticity, @PHENOTYPICFEATURE$, and @DISEASE$ are other common features associated with INAD.	false
+a09cae2e573afd2c888f9b7425dabfc6ba339f57	Gait disturbance, limb @DISEASE$, @PHENOTYPICFEATURE$, and optic atrophy are other common features associated with INAD.	false
+fe80443a1a9508bd5e05f9bdcc12f59244dd481e	He showed severe ID, @PHENOTYPICFEATURE$, @DISEASE$, neurogenic bladder, growth failure and progressive cerebellar atrophy.	has_symptom
+20477e920ff410dde477d6d0ee30bbc858c7ab43	He showed severe ID, @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$, growth failure and progressive cerebellar atrophy.	false
+a9013fe824b4771d6fb0b1ba431e6fc50dd32e83	He showed severe ID, spasticity, @DISEASE$, @PHENOTYPICFEATURE$, growth failure and progressive cerebellar atrophy.	false
+63381e2007b837684165b73170adc0753198a520	No patients had @DISEASE$, pigmentary retinal degeneration, @PHENOTYPICFEATURE$ or parkinsonism.	has_symptom
+96beca063258137fae050847b213ad04289e194a	No patients had optic atrophy, @DISEASE$ @PHENOTYPICFEATURE$, spasticity or parkinsonism.	false
+2363054c0ccaec2f61c8c9f2749d54be76499365	No patients had @DISEASE$, pigmentary @PHENOTYPICFEATURE$, spasticity or parkinsonism.	false
+8d3396f6378e16f16b02ebfaf44b30c481e411a7	No patients had optic atrophy, pigmentary @PHENOTYPICFEATURE$, @DISEASE$ or parkinsonism.	false
+3a64bd37361b9737bee6cb6336a931dee772e81b	A novel mutation in SLC25A46 causes @DISEASE$ and progressive limb @PHENOTYPICFEATURE$, with no cerebellar atrophy or axonal neuropathy.	has_symptom
+bf44fb5b1b25e697299d2772eeb716ae9510abcd	These disorders can result in progressive dystonia, @PHENOTYPICFEATURE$, parkinsonism, neuropsychiatric abnormalities, and @DISEASE$ or retinal degeneration.	has_symptom
+47cd15bfefa2600493539c8b9ba0503b309768df	They are clinically characterized by @PHENOTYPICFEATURE$, @DISEASE$, and ataxia.	has_symptom
+6b1de45599966a4c3ff98736dbd7ee7f31370f8b	They are clinically characterized by spasticity, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+78aa3a8fc0387275f818d482280cee06c63b4ee3	They are clinically characterized by @DISEASE$, optic atrophy, and @PHENOTYPICFEATURE$.	false
+4a77a1cc65ee9487d54c896fc81254e4085c4b06	The clinical symptoms include a slowly progressive cerebellar ataxia, @PHENOTYPICFEATURE$, variable @DISEASE$, and relatively preserved mental capacities.	has_symptom
+4986117f43229b658237fb8d422e90c40cb225b9	Its human mutations cause @DISEASE$ VIA (EDS VIA) characterized by @PHENOTYPICFEATURE$, joint laxity, and kyphoscoliosis.	has_symptom
+6e67b52f44e2cea7be9815937cb3e13919375968	Prader-Willi syndrome (PWS) and @DISEASE$ (EDS) are two different genetical disorders both characterized, among other features, by @PHENOTYPICFEATURE$.	has_symptom
+2fae75817d6e8e8fba7c7f484fcc21bb5c42f9b0	Differential diagnosis of @PHENOTYPICFEATURE$ in infants: the kyphoscoliotic type of @DISEASE$ (EDS VI).	has_symptom
+2fae75817d6e8e8fba7c7f484fcc21bb5c42f9b0	Differential diagnosis of @PHENOTYPICFEATURE$ in infants: the kyphoscoliotic type of @DISEASE$ (EDS VI).	has_symptom
+a7782f3ebeb826954782fb56384f3eca75e8612e	@DISEASE$ (EDS) type VI is an autosomal recessive disorder of the connective tissue characterized by joint hypermobility, @PHENOTYPICFEATURE$, scoliosis, and ocular fragility.	has_symptom
+20dc32d752470bfcf0d18d6a74eb468c91ce76d5	Ehlers-Danlos syndrome (@DISEASE$) type VI is an autosomal recessive disorder of the connective tissue characterized by joint hypermobility, @PHENOTYPICFEATURE$, scoliosis, and ocular fragility.	has_symptom
+62ac83e2ac1e5cd61b287f8423336f7862050521	The effects of @PHENOTYPICFEATURE$ and weakness on balance: a study on Prader-Willi and @DISEASE$ patients.	has_symptom
+7aa84bd434110d70510c99113d28abefe0578568	We report on an autosomal-recessive variant of @DISEASE$ (EDS) characterized by severe @PHENOTYPICFEATURE$ at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine.	has_symptom
+53db36399e5f2ed18d457edc6e6b2112d26587ac	We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (@DISEASE$) characterized by severe @PHENOTYPICFEATURE$ at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine.	has_symptom
+60a053e12a88c416e86fbbc05be09c1ab499fb9d	We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, @DISEASE$, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+fa29c5fce66e1bdb917a4289f51f11aee918f956	We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (@DISEASE$) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+8e18e19e30db0ddeeb2af9e25e5d6e995f947d11	We report on an autosomal-recessive variant of @DISEASE$ (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+eccca6b38ab7909b79d5b83ec665af62284fcc9f	We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive @DISEASE$, joint hypermobility, hyperelastic skin, myopathy, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+e5fda8404ed973be22d1148529e87060196f7e31	We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe @DISEASE$ at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+7583f7db2ecb2fa3a812d36f572bafde5ed1041b	@DISEASE$ type VI (EDSVI) is an autosomal recessively inherited connective tissue disease, characterized by kyphoscoliosis, @PHENOTYPICFEATURE$ and ocular manifestations.	has_symptom
+cbc2362651d43dfe5f4748246ae81a2b14ebcc96	Patients with the autosomal recessive type VI variant of the @DISEASE$ (EDS VI), also classified as the kyphoscoliotic type, are clinically characterized by neonatal kyphoscoliosis, generalized joint laxity, skin fragility, and severe @PHENOTYPICFEATURE$ at birth.	has_symptom
+45d6bc4673c1b4f4c711334a88ca06ae0d00a005	The kyphoscoliotic type of the @DISEASE$ is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe @PHENOTYPICFEATURE$ at birth, and kyphoscoliosis.	has_symptom
+56154c5d848f7713c9e37c2a7ca9adbb25880359	We report an infant who had clinical features consistent with @DISEASE$ type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities, @PHENOTYPICFEATURE$, and heterochromia iridis.	has_symptom
+fffa909c68b74e4c2177fff1fb3f6d719c21e661	We report an infant who had clinical features consistent with @DISEASE$ type II, with unusual features of @PHENOTYPICFEATURE$, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.	false
+7e56e28c9c96a3b8f3dbdb421f3e77c40b7892e6	We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, @PHENOTYPICFEATURE$, electroencephalogram abnormalities, @DISEASE$, and heterochromia iridis.	false
+be027f3b1243d6fab11b14e9ab954fdd340afc73	We report an infant who had clinical features consistent with @DISEASE$ type II, with unusual features of microcephaly, @PHENOTYPICFEATURE$, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.	false
+03ace86b7a5eb7a6b6423a83e098040104e5eb89	We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of @PHENOTYPICFEATURE$, seizures, electroencephalogram abnormalities, @DISEASE$, and heterochromia iridis.	false
+2fa29e6abe47e41148edbb576b50b6daa40ba641	@DISEASE$, another developmental disorder, is characterized by typical facial features in combination with developmental delay, @PHENOTYPICFEATURE$, prominent digit pads and visceral abnormalities.	has_symptom
+bd4792e53be6af3a4735f169826b162b0cc4f4c7	@DISEASE$ (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, @PHENOTYPICFEATURE$, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects.	has_symptom
+31b79565c52a9a24636c11cdd0298c5009202785	Kabuki syndrome (also known as @DISEASE$) is a rare autosomal disorder, characterized by an unusual face, @PHENOTYPICFEATURE$, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects.	has_symptom
+62397a2ceb4dbdc7ab131925386080e605bc018b	@DISEASE$ (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, @PHENOTYPICFEATURE$, and immunological defects.	false
+a51cfb150f70bdb5fe6cbd963470fdc85af9f09d	Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, @DISEASE$, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, mental retardation, and immunological defects.	false
+e008d4a8235b03b75c3b049daf3d321ed090d4c2	@DISEASE$ (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, mental retardation, and immunological defects.	false
+7860b3f388827c0a5181f60942ddb26c7492b4c1	Kabuki syndrome (also known as @DISEASE$) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, @PHENOTYPICFEATURE$, and immunological defects.	false
+687ed183ff16c447bcc66aa5e53adfe996481a28	Kabuki syndrome (also known as @DISEASE$) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, mental retardation, and immunological defects.	false
+e94adf501e905544862ac7e95632361dfa18ec57	Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, @DISEASE$, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, @PHENOTYPICFEATURE$, and immunological defects.	false
+04dc4cc838b3e926568649099b229344959d06d3	Kabuki syndrome (@DISEASE$) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, @PHENOTYPICFEATURE$, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	has_symptom
+1ba439be40e26b4221e3393b95aa37cc55b91bba	@DISEASE$ (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, @PHENOTYPICFEATURE$, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	has_symptom
+ae150e3e2f9637cf175631ccaf274a9ab0461ec5	Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation @DISEASE$ characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, and immunological defects.	false
+bdfc79ae30b237a2767c690671e20b4293d30bab	@DISEASE$ (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	false
+765aa188c5cb1dc4fac42833b22eb9ccdae4cb4d	@DISEASE$ (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, and immunological defects.	false
+ca2807ccfa41d4a7720d59dda606dd56766ae6ba	Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple @DISEASE$/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, and immunological defects.	false
+24e3b39f615ecc380605479b5146e82e632f0802	Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by a peculiar face, @DISEASE$, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	false
+4a57a6efccb4dd7cd69adcd9f4183f503218a7ba	Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	false
+a9ee6baf715ecb559964d0e024a0d1564172cad8	Kabuki syndrome (@DISEASE$) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, and immunological defects.	false
+77f746e6089b1205ceb7628c4d0e837aaad1d815	Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/@PHENOTYPICFEATURE$ @DISEASE$ characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	false
+0a4c010044b6e80dfd3ac0ea204b89d61c584e68	Kabuki syndrome (@DISEASE$) is a rare, multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects.	false
+95bb0101b05d0bf6b48baac7a8d225306733e9db	Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, @DISEASE$, skeletal, visceral and dermatoglyphic abnormalities, @PHENOTYPICFEATURE$, and immunological defects.	false
+fe7cb48b4a36ffa28f8c90dc3b0dbf5abc20b197	q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, @PHENOTYPICFEATURE$, and history of hypotonia had a phenotype reminiscent of @DISEASE$.	has_symptom
+1a829bf69c33577f9785a86eb0c799ba50f052de	@DISEASE$ is a multiple congenital malformation syndrome with a spectrum of clinical features including @PHENOTYPICFEATURE$.	has_symptom
+1adc11415119301a4739e3330239ec9bd876b6bb	An 11-year-old girl with the typical facial features of @DISEASE$ visited our hospital due to her @PHENOTYPICFEATURE$.	has_symptom
+c84d8a6e14106eba1525540f86795c4fc3fb53c7	@DISEASE$ (KS) is a Mendelian disorder, characterised by @PHENOTYPICFEATURE$, facial dysmorphisms and developmental delay and/or intellectual disability.	has_symptom
+76c2a058b1038a409b27b75a0f083f473b8298ea	Kabuki syndrome (KS) is a Mendelian disorder, characterised by @DISEASE$, @PHENOTYPICFEATURE$ and developmental delay and/or intellectual disability.	false
+d50af44162a2f643f3ebb95d2bd1d21ee53324b2	@DISEASE$ (KS) is a Mendelian disorder, characterised by short stature, @PHENOTYPICFEATURE$ and developmental delay and/or intellectual disability.	false
+a0a5c643df7cc79497e0c237fc43b219772082d4	Kabuki syndrome (KS) is a Mendelian disorder, characterised by @DISEASE$, facial dysmorphisms and developmental delay and/or @PHENOTYPICFEATURE$.	false
+c7ee4d23d9f36041e2c2468845efdf743ffe9bbe	@DISEASE$ (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developmental delay and/or @PHENOTYPICFEATURE$.	false
+33b58bef2d006f63895d163a38966aeb2f6fc214	A 3-year-old Taiwanese boy with @DISEASE$ had a @PHENOTYPICFEATURE$, spinal dysraphism, intellectual disability and typical facial features.	has_symptom
+b54536c046a8a8c1900c43d668314d0a27d29d0e	A 3-year-old Taiwanese boy with Kabuki syndrome had a @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability and typical facial features.	false
+8ddc5b6994cc694aaa3ff03c8a08ac453de47be6	A 3-year-old Taiwanese boy with @DISEASE$ had a short stature, @PHENOTYPICFEATURE$, intellectual disability and typical facial features.	false
+0a303dce39c0bd2a5525c6fa8d65e61b1868a939	A 3-year-old Taiwanese boy with @DISEASE$ had a short stature, spinal dysraphism, @PHENOTYPICFEATURE$ and typical facial features.	false
+b8c9f51d70e91fa4e59cf2fd6a95481f1f4b19fc	A 3-year-old Taiwanese boy with Kabuki syndrome had a @DISEASE$, spinal dysraphism, @PHENOTYPICFEATURE$ and typical facial features.	false
+eabca891694fdb30af07401bc8ffa30469264622	@DISEASE$ (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as @PHENOTYPICFEATURE$.	has_symptom
+54acf0d09a32f2b1a0ddb44c08f679714d8ba63c	@DISEASE$ (KS) is characterized by skeletal abnormalities, @PHENOTYPICFEATURE$, characteristic facial features, postnatal growth delay, and mental retardation.	has_symptom
+e2e2b1deb0a415ff0db4e2e901d0f178ee1a9c74	Kabuki syndrome (KS) is characterized by skeletal abnormalities, @DISEASE$, characteristic facial features, postnatal @PHENOTYPICFEATURE$, and mental retardation.	false
+66ce7bc9c31de06ede9fffd569fb768925264c01	Kabuki syndrome (KS) is characterized by skeletal abnormalities, @DISEASE$, characteristic facial features, postnatal growth delay, and @PHENOTYPICFEATURE$.	false
+b0e2169fb287441dc71ab7d7765986cc94228964	@DISEASE$ (KS) is characterized by @PHENOTYPICFEATURE$, short stature, characteristic facial features, postnatal growth delay, and mental retardation.	false
+45c1d2e688cfdc41a03d875f28bfa41af0dd299c	Kabuki syndrome (KS) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, characteristic facial features, postnatal growth delay, and mental retardation.	false
+8faf9dd478ae2e4e07d0c7775ec96f20b61c2c34	@DISEASE$ (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and @PHENOTYPICFEATURE$.	false
+d19e5ffca1143298dd365a69fa4491702f2dd5e7	@DISEASE$ (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal @PHENOTYPICFEATURE$, and mental retardation.	false
+76aab52aa21a4a046c2815bfd024626176211ba9	@PHENOTYPICFEATURE$, such as withdrawal symptoms, were observed in neonates who eliminated PMD with short half-lives, while other infants with longer @DISEASE$ half-lives or slower elimination because of nursing showed no such symptoms.	has_symptom
+bf277ef3841f75487ba595213d442fff92936f68	@PHENOTYPICFEATURE$, such as withdrawal symptoms, were observed in neonates who eliminated @DISEASE$ with short half-lives, while other infants with longer PMD half-lives or slower elimination because of nursing showed no such symptoms.	has_symptom
+8c99f4682037527be907e87766f837a8c47af212	We report a patient manifesting the typical characteristics of @DISEASE$ with @PHENOTYPICFEATURE$ and hyperinsulinemia.	has_symptom
+c60ace2948b82b305b1bceef5b4933765193f093	@DISEASE$ with insulin resistance and @PHENOTYPICFEATURE$.	has_symptom
+4f0b06e1f9ad6276217b5d972f4e5243235e917a	@DISEASE$ (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, @PHENOTYPICFEATURE$.	has_symptom
+1799d3e5ee132c928d48d062463be57f0391156f	Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, @PHENOTYPICFEATURE$, rib defects, and frequently, @DISEASE$.	false
+e12df069c27cdc3e18e266f954a6d41e79582b60	Cerebrocostomandibular syndrome (CCM) is characterized by @PHENOTYPICFEATURE$, cleft palate, rib defects, and frequently, @DISEASE$.	false
+d08dc017c3defec5934b1eb0b82e94d594428526	Cerebrocostomandibular syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, cleft palate, rib defects, and frequently, mental deficiency.	false
+2ab36b14c768f24c49110c97bdf773c77aab6520	@DISEASE$ (CCM) is characterized by micrognathia, @PHENOTYPICFEATURE$, rib defects, and frequently, mental deficiency.	false
+3692af4c2729d85b1d97d98818dfab9abd3201cb	@DISEASE$ (CCM) is characterized by @PHENOTYPICFEATURE$, cleft palate, rib defects, and frequently, mental deficiency.	false
+ecf1ae9e41d8fcbfe09c9ec8799a8b74a3444fb4	Cerebrocostomandibular syndrome (@DISEASE$) is characterized by micrognathia, @PHENOTYPICFEATURE$, rib defects, and frequently, mental deficiency.	false
+1c84182c4ff1f512b7aa5919893ec08ba481162e	It was shown that m14487T>C can also cause the unusual combination of @DISEASE$, ptosis, and encephalomyopathy leading to intractable @PHENOTYPICFEATURE$.	has_symptom
+154b0f5ac848a3515f02f60a00fe83ba6f479f8d	It was shown that m14487T>C can also cause the unusual combination of @DISEASE$, @PHENOTYPICFEATURE$, and encephalomyopathy leading to intractable seizures.	false
+c521fab691542c8727606e83a994d0359e2c5aeb	It was shown that m14487T>C can also cause the unusual combination of optic atrophy, @PHENOTYPICFEATURE$, and encephalomyopathy leading to intractable @DISEASE$.	false
+6b12783e52e9ed6b0bc1762c599fb9b9da5629b2	For most of the patients initial symptoms included @PHENOTYPICFEATURE$, psychomotor delay, accompanied by macular degeneration and @DISEASE$.	has_symptom
+9547834a83fd93e8b5ff44b6358f2f73b06f76de	She has underlying delayed development, @PHENOTYPICFEATURE$, @DISEASE$ and poor growth.	has_symptom
+1f863e28719b7a68ceeebb39830cf22634b20b52	She has underlying delayed development, seizures, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9808ebe4411a2dde0dd33a8c52e0b6e4bbc80c72	She has underlying delayed development, @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$.	false
+11efef114cb8686eba0430f6824f1ec72fca96cc	Though four year follow-up revealed changes in @PHENOTYPICFEATURE$ pattern, there was no @DISEASE$, change in IQ or peripheral nerve problem.	has_symptom
+17d2c43dd85aafb95ede319fbc00fbf2a1404705	Developmental delay, paraparesis, @DISEASE$, and @PHENOTYPICFEATURE$ during febrile illness were observed at follow-up.	has_symptom
+73149b0b019f3b109ef5df58c5c2059e7775b9aa	All of the patients had @PHENOTYPICFEATURE$, myoclonia, cognitive deterioration, cerebellar and pyramidal signs and also @DISEASE$.	has_symptom
+71b168ef1bda7c64f5ffbfd071617cb4e6e5e7bc	All of the patients had @DISEASE$, @PHENOTYPICFEATURE$, cognitive deterioration, cerebellar and pyramidal signs and also optic atrophy.	false
+8707b09a1dba65f137ed4e0fd1cc21c260f08ca1	All of the patients had seizures, @PHENOTYPICFEATURE$, cognitive deterioration, cerebellar and pyramidal signs and also @DISEASE$.	false
+8b92cd0812437852689ef7f7fb3026a77492b2a8	She presented with dysmorphism, profound hypotonia, psychomotor retardation, @PHENOTYPICFEATURE$, and loss of hearing and vision with findings of @DISEASE$.	has_symptom
+26e1fe0d9b7092dfbc6481e9f7f67678f31f3f9a	Later on bulbar symptoms, @DISEASE$ and @PHENOTYPICFEATURE$ occurred.	has_symptom
+1625f0079f24a3231201501266790c76edd1b1bf	This study examined a Korean MELAS-like syndrome patient with @PHENOTYPICFEATURE$, stroke-like episode, and @DISEASE$.	has_symptom
+5b7188a1554ad080dc2195cfdad358502c265dde	Among the most common neurological findings were hypotonia (6/8), @PHENOTYPICFEATURE$ (2/6) and @DISEASE$ (2/8).	has_symptom
+eedd85b7e91c3d06525db2a4c9a8989ce26c788a	Associated conditions include hereditary vitreoretinal disorders (e. g., morbus Stickler, @DISEASE$, Marfan syndrome, famili?r exsudative vitreoretinopathy), malformations (e. g., persistent hyperplastic primary vitreous, coloboma) and retinal detachment following @PHENOTYPICFEATURE$ surgery.	has_symptom
+9c23a3bc568808f13276ee43ac7b7b9927b3c4d9	SLC25A46 mutations underlie progressive myoclonic @PHENOTYPICFEATURE$ with @DISEASE$ and neuropathy.	has_symptom
+6609c97bfb840a7d142189b304f5d8e6c26ceb82	SLC25A46 mutations underlie progressive @PHENOTYPICFEATURE$ ataxia with @DISEASE$ and neuropathy.	false
+1e5368326bbe56155927b83edecb47b4a77d9122	SLC25A46 mutations underlie progressive @PHENOTYPICFEATURE$ @DISEASE$ with optic atrophy and neuropathy.	false
+93f4a682e266b56b221f0278a6c167dae93ca7fb	SLC25A46 mutations underlie progressive @PHENOTYPICFEATURE$ ataxia with optic atrophy and @DISEASE$.	false
+5ffaa876773c4c6803475088c2d1affcb5913d73	@DISEASE$ was added to the typical neurological exam of @PHENOTYPICFEATURE$ cerebral palsy and the diagnosis was re-considered.	has_symptom
+7c7acdb9c233bad6625fa4e48a937bbad539b559	[Friedreich's @PHENOTYPICFEATURE$ with @DISEASE$ & imbecility involving selectively the boys in a family].	has_symptom
+a181b83ad47e4ca8fd573e478a11d5b1f5655788	Three siblings developed childhood-onset @DISEASE$, followed by spasticity and @PHENOTYPICFEATURE$.	has_symptom
+263955382b85b8ff46d420bca59149c508f91682	Three siblings developed childhood-onset optic atrophy, followed by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+042d22c3c703df743ba43ab64afea9413a34f267	Three siblings developed childhood-onset @DISEASE$, followed by @PHENOTYPICFEATURE$ and ataxia.	false
+2f88a6d1e81e271dcdad86335d8c60b89fb03a8a	Furthermore, the patients developed tremor, @PHENOTYPICFEATURE$, @DISEASE$, and spastic tetraparesis.	has_symptom
+c0d515962ead8b2595153543f62895c62de8efae	Behr's syndrome: familial @DISEASE$, spastic diplegia and @PHENOTYPICFEATURE$.	has_symptom
+f4b389e2e6cd54db99d5e2e64f22cf94c9ef3d01	[Familial @PHENOTYPICFEATURE$ with peroneal muscular atrophy and @DISEASE$].	has_symptom
+94d5da540f938e5a7aa525020e55779ed7efb31f	Hereditary @PHENOTYPICFEATURE$ with @DISEASE$ of the retrobulbar neuritis type, and latent pallido-luysian degeneration.	has_symptom
+6b1de45599966a4c3ff98736dbd7ee7f31370f8b	They are clinically characterized by spasticity, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+47cd15bfefa2600493539c8b9ba0503b309768df	They are clinically characterized by @PHENOTYPICFEATURE$, @DISEASE$, and ataxia.	false
+a58d234f8771e3382fd02dd04dea66a1339caaa5	They are clinically characterized by @PHENOTYPICFEATURE$, optic atrophy, and @DISEASE$.	false
+302cdcc0892204a4039721704173343c27ea018b	Focal neurological signs included @DISEASE$, lateral rectus palsy, hemiplegia, internuclear ophthalmoplegia and @PHENOTYPICFEATURE$.	has_symptom
+66f1552da3d03f810ddc416990920c032728fea9	@DISEASE$ is an inherited disorder associated with defects in type II collagen and characterised by @PHENOTYPICFEATURE$, kyphoscoliosis, and enlarged joints with restricted mobility.	has_symptom
+4b426e7f18825e2afb57b1efc54391ffa61168b3	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, @PHENOTYPICFEATURE$, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.	has_symptom
+951d4c75fc77272d112f649235b395b76fd1941f	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, @PHENOTYPICFEATURE$ associated with other clinical expressivity present among the previous reported cases.	false
+7fde581adfa156d887af52ac39119b933dd860f9	The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, @DISEASE$, mental deficiency, @PHENOTYPICFEATURE$ associated with other clinical expressivity present among the previous reported cases.	false
+ad6cfb6511014045509ca3d3c7f5d5b6fd714b6a	The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, @DISEASE$, @PHENOTYPICFEATURE$, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+9623a04a5aaa51869df10dca70386f664fc9cceb	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, @PHENOTYPICFEATURE$, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+f300843f86113156f2d52952a4532b620cf1b87d	The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, @PHENOTYPICFEATURE$, truncal obesity of mid-childhood onset, @DISEASE$, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+7dc76fb0974b8ad1ec50eab2ae7038a9f06c28bd	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, @PHENOTYPICFEATURE$, limb anomalies associated with other clinical expressivity present among the previous reported cases.	false
+8b00701db26c672e40f887b48a1fca5df184b7c1	@DISEASE$ (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with @PHENOTYPICFEATURE$ and sleep disturbance.	has_symptom
+d7e1e0425de75b6460e97b314121b74ffe36dba9	Smith-Magenis syndrome (SMS) is a multiple @DISEASE$/mental retardation syndrome associated with behavioral abnormalities and @PHENOTYPICFEATURE$.	false
+9a7ea292003bb407a570a81928ad9872c5a2c181	@DISEASE$ (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and @PHENOTYPICFEATURE$.	false
+5aac0b5487c838efae43139c0183c65e1eab515a	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome associated with @DISEASE$ and sleep disturbance.	false
+8145bdb8a91085cdfdc7642669544bf542864ce0	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ @DISEASE$ associated with behavioral abnormalities and sleep disturbance.	false
+f7d90189c2ac395818cc2bfbf66d6064cfe055c6	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation @DISEASE$ associated with behavioral abnormalities and @PHENOTYPICFEATURE$.	false
+f054d05637052a9813a73078ccf5ce7ecaa81a24	Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5299ae3056095dd4828b2cd122e56c5c928a02b9	@DISEASE$ (SMS) is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome associated with behavioral abnormalities and sleep disturbance.	false
+2ee5980ea10885850d5f12be1bd25809c975ff20	Smith-Magenis syndrome (SMS) is a multiple @DISEASE$/@PHENOTYPICFEATURE$ syndrome associated with behavioral abnormalities and sleep disturbance.	false
+41649424e642eb8792a0084693e720cf9a0ce369	@DISEASE$ (SMS) is characterized by distinctive facial and skeletal features, developmental delay, cognitive impairment, and @PHENOTYPICFEATURE$, including self-injurious behaviors.	has_symptom
+0e7e51f4ff9cc077c5b545321f18b45fecd69581	@DISEASE$ (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, @PHENOTYPICFEATURE$, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2	has_symptom
+0b8e36bc199772394df78df5edc0a1fc7b8eee07	Smith-Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple @DISEASE$, @PHENOTYPICFEATURE$, behavioral abnormalities, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2	false
+240ec35990194a16b36f27b0a0aac515875ce8a1	Smith-Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, @PHENOTYPICFEATURE$, @DISEASE$, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2	false
+5d198d0a3504e327ba8893f42264c36ae0908d49	@DISEASE$ (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, @PHENOTYPICFEATURE$, behavioral abnormalities, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2	false
+9025536c71d3ae3591d4a4ebf88a8485a0b7791a	@PHENOTYPICFEATURE$ and treatment strategies in @DISEASE$.	has_symptom
+11a0598fb2d260358809d6f0871926bb6f4d2787	[Case report : respiratory care for anesthesia in a patient with @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+af41f488fdb5838349f136a82ed9a451191a2ed0	karyotype presented with skin redundancy, especially in the neck, prominent occiput and @PHENOTYPICFEATURE$, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of @DISEASE$.	has_symptom
+079af70d4c8fa321b907df9ee5ef83bf3e629c19	karyotype presented with skin redundancy, especially in the neck, prominent occiput and @DISEASE$, and later developed hypotonia, @PHENOTYPICFEATURE$, sparse scalp hair, and profound mental retardation characteristic of Menkes disease.	false
+3c3a0bc77058e44740f16f9be8fdbcfc323a7743	karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, @PHENOTYPICFEATURE$, sparse scalp hair, and profound mental retardation characteristic of @DISEASE$.	false
+94490daea13693ed6e4a4e0f4efb3f2ddfc694b2	These side effects except for hypomagnesemia are the cardinal features of familial @PHENOTYPICFEATURE$ and hypertension (FHHt), also called @DISEASE$ (PHA II).	has_symptom
+a232abe55bc2c7f09837ca10f7d3d4c72b9c4582	@DISEASE$: proximal renal tubular acidosis and dDAVP-sensitive renal @PHENOTYPICFEATURE$.	has_symptom
+cd769898b97ddbe199646dd16907c6ae665a3e82	PHA 2: The association of @PHENOTYPICFEATURE$/hyperaldosteronism with high blood pressure should suggest PHA 2 or Gordon's syndrome, still called @DISEASE$.	has_symptom
+b72dca92df6f2ed358cc50cac91bf9cef91c6cf1	PHA 2: The association of @DISEASE$/@PHENOTYPICFEATURE$ with high blood pressure should suggest PHA 2 or Gordon's syndrome, still called familial hyperkalemic hypertension.	false
+8b920397e78e38dc28bf417235ec1678532499dc	PHA 2: The association of hyperkalemia/@PHENOTYPICFEATURE$ with high blood pressure should suggest PHA 2 or Gordon's @DISEASE$, still called familial hyperkalemic hypertension.	false
+0974526057deddbf86bc7c21cdd62ee89e7910e2	PHA 2: The association of hyperkalemia/@PHENOTYPICFEATURE$ with high blood pressure should suggest PHA 2 or Gordon's syndrome, still called @DISEASE$.	false
+f65509c10a8643a041ab755cd5fef37dbb5967c2	Germline mutations in the WNK4 gene originate @DISEASE$ or pseudohypoaldosteronism type II, a familial form of hypertension with @PHENOTYPICFEATURE$ and hypercalciuria.	has_symptom
+b7e6a4f7469ceb0f10226bbb8e8c3310f028f80a	Germline mutations in the WNK4 gene originate Gordon syndrome or @DISEASE$, a familial form of hypertension with @PHENOTYPICFEATURE$ and hypercalciuria.	has_symptom
+20d8d2a8bf2ae1a95f9476f567c35c74a11ff2c1	Germline mutations in the WNK4 gene originate Gordon syndrome or @DISEASE$, a familial form of hypertension with hyperkalemia and @PHENOTYPICFEATURE$.	false
+4049967e8e0ce8bdb628fc407d2cc7c10cca68e5	Germline mutations in the WNK4 gene originate @DISEASE$ or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and @PHENOTYPICFEATURE$.	false
+d021d2335e939bc959f0030895bfa2c81de30af0	Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+049f5da06583ef39a26aab0ce17fe57341ebee0c	@DISEASE$ is a rare disorder characterized by low birthweight, @PHENOTYPICFEATURE$, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	has_symptom
+957f8ff74b6a1cbb407d16117552b10d52c70612	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @PHENOTYPICFEATURE$.	false
+d30a6e8c5c0ed755d547766357a73e9226b4e7bc	Myhre syndrome is a rare disorder characterized by low birthweight, @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+fb20d45ff5f1558f7c615ff56261ccbdd544632a	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, @PHENOTYPICFEATURE$, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+29fa3cc10de2e08e0d491f4dc51cc89c9ccb7beb	Myhre syndrome is a rare disorder characterized by low birthweight, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$ (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+c3feb52d95e0e6dc370063d4951c7cd347007950	@DISEASE$ is a rare disorder characterized by low birthweight, short stature, mental retardation, @PHENOTYPICFEATURE$ (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.	false
+1589b2ba9d993f8c4ea84826f45d5a4b83afc5de	Myhre syndrome is a rare disorder characterized by low birthweight, @DISEASE$, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and @PHENOTYPICFEATURE$.	false
+e4cfb82d38cfaffc232c55c6190299b806bc2022	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss.	has_symptom
+f6e32defae5d1a9a6ac82f62342597533befd362	Myhre syndrome is characterized by short stature, @PHENOTYPICFEATURE$, facial features, pseudomuscular hypertrophy, joint limitation and @DISEASE$.	false
+a7243c9fa9db44755d04dfe7ea59d17adbc99144	@DISEASE$ is characterized by short stature, @PHENOTYPICFEATURE$, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss.	false
+8d37dbd474e2ce42c5276b8d2e41f14bbd656faa	Myhre syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss.	false
+48fc576d1d2131194d9352e2d6f3db8df72cf645	@DISEASE$ (MS) (MIM 139210) is a rare disorder characterized by @PHENOTYPICFEATURE$, mental retardation, muscular build, blepharophimosis, and decreased joint mobility.	has_symptom
+bdb07ec7e764523220888d38da9f8bbc0d143fcd	Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, muscular build, blepharophimosis, and decreased joint mobility.	false
+c7929b4a7e01516fd7ff1a8df3ee24e4bfb4e543	@DISEASE$ (MS) (MIM 139210) is a rare disorder characterized by short stature, @PHENOTYPICFEATURE$, muscular build, blepharophimosis, and decreased joint mobility.	false
+ac3bdc1a939adb175d6ea3fc8448180f6a48d8cc	@DISEASE$ is a rare autosomal dominant genetic condition characterized by @PHENOTYPICFEATURE$, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, deafness and cardiac defects.	has_symptom
+1578b945152a58a2dd4dd0b6c9f8334cfa668a78	@DISEASE$ is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, @PHENOTYPICFEATURE$ and cardiac defects.	false
+5b77e2923d7cad70bedf360062d38d0f0616025c	Myhre syndrome is a rare autosomal dominant genetic condition characterized by @DISEASE$, distinctive facial dysmorphisms, generalized muscle hypertrophy, @PHENOTYPICFEATURE$, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+a80266f53d11202ea7950968574ad7ecd9870fc8	@DISEASE$ is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, @PHENOTYPICFEATURE$, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+1beba958d3cdc76a0fa5cd82d00cd4caf9066bf2	Myhre syndrome is a rare autosomal dominant @DISEASE$ characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, @PHENOTYPICFEATURE$, decreased joint motility, developmental delay, deafness and cardiac defects.	false
+066d7bc67ccba1aea6e2514dc302c85cd72e80de	Myhre syndrome is a rare autosomal dominant genetic condition characterized by @DISEASE$, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, @PHENOTYPICFEATURE$ and cardiac defects.	false
+96c1eff172d3f292ae323ec5aadbfa5f46db7122	Myhre syndrome is a rare autosomal dominant @DISEASE$ characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, @PHENOTYPICFEATURE$ and cardiac defects.	false
+9228a002d84884f91a2d47dd85a1e15c38491ecc	Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in @DISEASE$ and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and @PHENOTYPICFEATURE$ syndrome.	has_symptom
+872cc5406b5196d32a89ab6d91fb85aad126e9c1	Review of @DISEASE$ patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and @PHENOTYPICFEATURE$ syndrome.	has_symptom
+c84ee567be44ad42472013a8b8fa3cf438746c0a	@DISEASE$ is a rare multisystem connective tissue disorder, characterized by @PHENOTYPICFEATURE$, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	has_symptom
+c5c65ce673201866ac5c5b5d7c5884a71cfb7ad4	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by @DISEASE$, facial dysmorphology, variable @PHENOTYPICFEATURE$, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+0aa3c2cac8e7191700c095097685b7f73d2abd7b	@DISEASE$ is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+44b0c325716f90f2a18bd3563ff020641de0475b	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by @DISEASE$, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+5cf29f5d3917b52eb47fd289c46f7022feaa58df	Myhre syndrome is a rare multisystem @DISEASE$, characterized by short stature, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+4df1c4187263d2be44eeb53cb9005d05fce1b244	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+8954d3731140550de8066dca17bc17fd1b8c3688	Myhre syndrome is a rare multisystem @DISEASE$, characterized by short stature, facial dysmorphology, variable @PHENOTYPICFEATURE$, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+9e10645ff442f11a202dfa39b4241ff98151048a	@DISEASE$ is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable @PHENOTYPICFEATURE$, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+da0443b995263d5397f84a5ca678953ce4a1315a	Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable @PHENOTYPICFEATURE$, skeletal abnormalities, @DISEASE$, cardiopathy, laryngotracheal anomalies, and stiff skin.	false
+65ec90bfd0dcc2a6423d232e8d3bc10a02190a1e	@DISEASE$ (MS, MIM 139210) is a connective tissue disorder that presents with @PHENOTYPICFEATURE$, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness.	has_symptom
+d6c407ffbed769b6c8231b60b161d43680e0dd00	Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with @DISEASE$, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and @PHENOTYPICFEATURE$.	false
+b4a391dcfb990e346883b2a56637200d87af8302	Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, @DISEASE$ dysmorphic features, muscle hypertrophy, thickened skin, and @PHENOTYPICFEATURE$.	false
+1a4e3dacf28703da13763a47347cb686d4736045	@DISEASE$ (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and @PHENOTYPICFEATURE$.	false
+f01483c552cd0faf35bdd5a1617068bafe4837b3	Three cases had no family history of similarly affected individuals but 1 male's mother had @PHENOTYPICFEATURE$, some facial features suggestive of @DISEASE$ and evidence of skewed X-chromosome inactivation in her blood DNA.	has_symptom
+b1941e639de7a5e6e65de5897df44a3a9196a42e	@DISEASE$ is a rare connective tissue disease characterized by nonprogressive stiffness of the large joints, @PHENOTYPICFEATURE$ with a peculiar build, and a distinctive facial phenotype.	has_symptom
+0e81f3ee9820d668280733ab024a3ab813a67a96	@DISEASE$ (MIM 139210) is a developmental disorder characterized by @PHENOTYPICFEATURE$, short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive delay.	has_symptom
+482b0cbb5029a668af0e3ef981be5e0c66d38cbd	@DISEASE$ (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, @PHENOTYPICFEATURE$, muscular hypertrophy, deafness and cognitive delay.	false
+c1be77151c9a14b128de5c796d329d03789e8783	@DISEASE$ (MIM 139210) is a developmental disorder characterized by short stature, short hands and feet, facial dysmorphism, muscular hypertrophy, @PHENOTYPICFEATURE$ and cognitive delay.	false
+17747440ac8e37b4189e39afe7cbdfb191fcf3b1	Myhre syndrome (MIM 139210) is a developmental disorder characterized by @DISEASE$, short hands and feet, facial dysmorphism, muscular hypertrophy, @PHENOTYPICFEATURE$ and cognitive delay.	false
+d4a1c84bdaa57fcff3c1f8b6add3a787fecbf0de	Myhre syndrome (MIM 139210) is a developmental disorder characterized by @DISEASE$, short hands and feet, @PHENOTYPICFEATURE$, muscular hypertrophy, deafness and cognitive delay.	false
+2e7362c759bf0d5c276a808064f0773f8a0d4cf5	It has variable side effects, ranging from mild symptoms of fatigue and insomnia to a potentially life-threatening @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+09dc53e300893fa91cb5fc9a881a953dceee2486	Mycoplasma is a virulent organism that is known to primarily infect the respiratory tract; however, affection of the skin, nervous system, kidneys, heart and bloodstream has been observed in various forms, which include @DISEASE$, erythema multiforme, toxic epidermal necrolysis, encephalitis, @PHENOTYPICFEATURE$, conduction system abnormalities and hemolytic anemia.	has_symptom
+86aefac8dcfc6b3eafadbadb55313df14eb3f296	We evaluated the underlying cause of anemia and @PHENOTYPICFEATURE$ in 2 consecutive patients being treated with IVIG for @DISEASE$/toxic epidermal necrolysis.	has_symptom
+c0908ee1e143b9d992a4ee4095b494ec324396bf	Treatment of a presumed infection led to a severe allergic response with @DISEASE$, @PHENOTYPICFEATURE$ and DIC.	has_symptom
+f6f62d594e3048ddf8f771e2afd98daa6667f94e	Five patients (12.1%) had an early death at a median of 23 days after treatment initiation, caused by sepsis in 4 and by a @DISEASE$ in 1. Children that had an early death were significantly more likely to present with @PHENOTYPICFEATURE$ (P=0.04) and have significantly higher levels of phosphate and creatinine on admission (P=0.02 and 0.008).	has_symptom
+2b40ec1ae43c03e5d3576d311b398dd1f84bc873	@PHENOTYPICFEATURE$ and hyponatraemia masquerading the diagnosis of @DISEASE$.	has_symptom
+3210795a31b742f235a35466b2a6d3808fa28eed	@DISEASE$ patients have immune system @PHENOTYPICFEATURE$ abnormalities, and multiple infections including periodontitis.	has_symptom
+81bd2d0526e2238e6e911f4edd1d6aefca6623f0	We present a case of @DISEASE$ (RPF) in a female patient of 45 years, obese (BMI = 39 kg/sqm), hypertensive since 2005, with diabetes mellitus treated with diet and diabetes insipidus in whom, during a routine control, the following has been found: serum creatinine 1.74 mg/dl, and an inflammatory syndrome associated with @PHENOTYPICFEATURE$.	has_symptom
+3542a43eacbbe22bbf8808cbd4a220b3940094b4	Our case suggests that when we see patients with @PHENOTYPICFEATURE$ and huge splenomegaly, differential diagnosis should include @DISEASE$.	has_symptom
+09bb5481cfee2eda934e46340d618145e7a0a588	We report a case of @DISEASE$ (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and @PHENOTYPICFEATURE$ with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).	has_symptom
+bcb4b6f426155b643d8f36de6652c8503e9e2f75	We report a case of @DISEASE$ (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, @PHENOTYPICFEATURE$ and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).	false
+22af13d86bf9265f88eb5a95c032e08eea8c2b9e	We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, @PHENOTYPICFEATURE$ and @DISEASE$ with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).	false
+1412f79530f5e4ab0f9ce057b55f8beb9b25e389	When the presence of hypomagnesaemia was demonstrated, we observed that he also had @PHENOTYPICFEATURE$, hypocalciuria, increment of the urinary elimination of magnesium, slightly high levels of renin, dilution defect and a moderate reduction of the NaCl tubular distal reabsorption, all compatible with the diagnosis of @DISEASE$.	has_symptom
+fd7b83b4e485f6efbc943ef0e7ada88c04a37de5	@DISEASE$ is a mostly autosomal recessive disorder affecting the renal tubular function associated with @PHENOTYPICFEATURE$ and hypomagnesemia.	has_symptom
+e599cb30a5357d7a8e4e3e19cc30fdc9f1b302cb	Gitelman syndrome is a mostly autosomal recessive disorder affecting the renal tubular function associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+06443bda7f578f960819833cb451790d2721fea3	@DISEASE$ is a mostly autosomal recessive disorder affecting the renal tubular function associated with hypokalemia and @PHENOTYPICFEATURE$.	false
+8738f2bf2237641c221fdb6f69cbcc8cfb7e2fe0	@DISEASE$ (familial @PHENOTYPICFEATURE$-hypomagnesemia syndrome) is an autosomal recessive inherited renal disorder characterized by defective tubular reabsorption of magnesium and potassium.	has_symptom
+027677bbd0375a2c305a8605827d255f4f1a2cb4	@DISEASE$ (familial hypokalemia-@PHENOTYPICFEATURE$ syndrome) is an autosomal recessive inherited renal disorder characterized by defective tubular reabsorption of magnesium and potassium.	false
+bb676f1310ab4e8be2d570d2c183afa69e9a7bb4	Gitelman syndrome (familial hypokalemia-@PHENOTYPICFEATURE$ syndrome) is an autosomal recessive inherited @DISEASE$ characterized by defective tubular reabsorption of magnesium and potassium.	false
+541c3fff9cd0be032af9d0b3afc5f673eff627ae	Gitelman syndrome (familial hypokalemia-@PHENOTYPICFEATURE$ @DISEASE$) is an autosomal recessive inherited renal disorder characterized by defective tubular reabsorption of magnesium and potassium.	false
+fd6398d2c1de19a224f3f3bb6313454a008e0fab	Gitelman syndrome (familial @DISEASE$-@PHENOTYPICFEATURE$ syndrome) is an autosomal recessive inherited renal disorder characterized by defective tubular reabsorption of magnesium and potassium.	false
+e7eea178d949c299c9166d26e2fe7649d50740c8	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial @PHENOTYPICFEATURE$ periodic paralysis, congenital myotonia, malignant hyperthermia, epilepsy, @DISEASE$ and Lambert-Eaton syndrome.	has_symptom
+4c39bc4e54a924e0917d7538ccb0e2c3f20fde55	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, @DISEASE$, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+e97274c914a3ad8a9d6c5fb62211620376c47f35	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial @DISEASE$ periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+4adf149ecc9199b832cad41208cd8c4dd3b48a77	Here, we reviewed several channelopathies including @DISEASE$, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+ae29765ca21cfa8ea053ca37f9520faaefd16b25	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and @DISEASE$.	false
+6f7b6064011a898723ad7e07f3e37df1840ccd5d	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+7da0a996b321969b9f6b52b95391ddef2b18ba6f	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, @DISEASE$, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+c881e9b7ec3923ccdde0427b9b0daf5b37c612c9	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and Lambert-Eaton syndrome.	false
+fc18d5045e72d1d55398a95dd8d40b1b37abbd49	[@DISEASE$: a rare cause of @PHENOTYPICFEATURE$-hypomagnesemia in children].	has_symptom
+ebbe11b8b284b08ec7aca1f633a417234ae270d6	[Gitelman syndrome: a rare cause of @DISEASE$-@PHENOTYPICFEATURE$ in children].	false
+2798f8fc9c513d68ad2ff8af5cce3fd4ae7920c5	[@DISEASE$: a rare cause of hypokalemia-@PHENOTYPICFEATURE$ in children].	false
+7313b3e0c3163be6a1603b02fde3fa01581690cc	In familial hypomagnesemia-@PHENOTYPICFEATURE$ (@DISEASE$) the renal magnesium threshold is lowered but the tubular maximum is in the normal range.	has_symptom
+d1233481a575486d730155a87f3b5b548123a4e4	In familial @PHENOTYPICFEATURE$-@DISEASE$ (Gitelman syndrome) the renal magnesium threshold is lowered but the tubular maximum is in the normal range.	false
+6e20e8a60f3a6e42a8959bc281d416d6787c4894	In familial @PHENOTYPICFEATURE$-hypokalemia (@DISEASE$) the renal magnesium threshold is lowered but the tubular maximum is in the normal range.	false
+c714dba06df4206fc7a6e5f5a93abc04b4058450	@DISEASE$ (GS), also referred to as familial @PHENOTYPICFEATURE$-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	has_symptom
+f3cfecbc91a75e537bd0b8757a94959758ade7c9	@DISEASE$ (GS), also referred to as familial hypokalemia-@PHENOTYPICFEATURE$, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	false
+b6caebd3000c7d00cc14ebbf6c47dc81e809db23	Gitelman syndrome (GS), also referred to as familial hypokalemia-@PHENOTYPICFEATURE$, is characterized by @DISEASE$ metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	false
+577b124c83bf37b960f87bc57bf48053324352d1	Gitelman syndrome (GS), also referred to as familial @DISEASE$-@PHENOTYPICFEATURE$, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	false
+35f68ce038c13bacd13484dd700208d7c8467088	The primary clinical manifestations of @DISEASE$ are lower extremity weakness with @PHENOTYPICFEATURE$ and hypomagnesemia.	has_symptom
+ec4d2770e8e494ea4aeb7b4852a1c5dc5439ec37	The primary clinical manifestations of @DISEASE$ are lower extremity weakness with hypokalemia and @PHENOTYPICFEATURE$.	false
+2195c7d817832331017897fa88a2dab9885bf38b	The primary clinical manifestations of Gitelman syndrome are lower extremity weakness with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9e027e51d000797e5274a508d381058c7306755e	@DISEASE$ is observed in older children and adults presenting with intermittent episodes of muscle weakness and tetany, @PHENOTYPICFEATURE$, and hypomagnesemia.	has_symptom
+9153c5dfb6f0ac068702d0c1fd6f1bd93781186a	Here, we review the main features of @DISEASE$ with special focus on oro-facial manifestations like prominent forehead, moderate @PHENOTYPICFEATURE$ with deep-set eyes, a saddle or straight nose with a flattened, bulbous tip, and large ears.	has_symptom
+f0991705ea30117345751462991a235c37bc9fd4	@DISEASE$ is often associated with inner ear malformations, especially @PHENOTYPICFEATURE$ (EVA).	has_symptom
+a3e8ca65610c0eedde32173f951cb6e5d091b1ec	Mutations of SLC26A4 cause an @PHENOTYPICFEATURE$, nonsyndromic deafness, and deafness as part of @DISEASE$.	has_symptom
+72fff8bfe0c80ddaa35f985d7f6e3b776e69a846	Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic @PHENOTYPICFEATURE$, and deafness as part of @DISEASE$.	false
+42f608a4927ae1a1589701c362fdd6e3e0817555	Mutations of SLC26A4 cause an @DISEASE$, nonsyndromic @PHENOTYPICFEATURE$, and deafness as part of Pendred syndrome.	false
+63c1f621e57c6673edc508e6594691fc83f53520	Mutations of SLC26A4 cause an @DISEASE$, nonsyndromic deafness, and @PHENOTYPICFEATURE$ as part of Pendred syndrome.	false
+559b508ff2ad09a805d8beec2b0d2f8a6aa8dbcf	Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and @PHENOTYPICFEATURE$ as part of @DISEASE$.	false
+ae6915c19778e5d5b63dc6b83e9fd42930403643	Progressive sensorineural hearing loss and a @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+6ebc9515f3e9d50ada53c3ddbbc58325f188b7f0	Progressive @PHENOTYPICFEATURE$ and a widened vestibular aqueduct in @DISEASE$.	false
+9b7441a0ebf791fa7a5b685f59987220e22af592	Progressive @PHENOTYPICFEATURE$ and a @DISEASE$ in Pendred syndrome.	false
+1493b11b1b644d1bab0dba981616a6ad90f9b484	Both LAV- (large or @PHENOTYPICFEATURE$) and @DISEASE$ are autosomal recessive diseases.	has_symptom
+f27ac0c4c72074b824dabda565470d7916bae0d7	In contrast to @DISEASE$, LAV-syndrome is characterised only by an @PHENOTYPICFEATURE$.	has_symptom
+7af95671659063822c8d63c270fedc07bdb67f55	Receptive language acquisition in a pediatric population with @DISEASE$ and non-syndromic @PHENOTYPICFEATURE$.	has_symptom
+9fb8f8b272f9404e17acce2624722c2ea0717357	SLC26A4 mutations are responsible for @DISEASE$ and non-syndromic @PHENOTYPICFEATURE$ (EVA).	has_symptom
+b2169fe18f84fcceb70639dbe866ee897b07865b	Phenotypes of SLC26A4 gene mutations: @DISEASE$ and hypoacusis with @PHENOTYPICFEATURE$.	has_symptom
+b4712e49c5754bcba1db5808bb7018f69fda6ae6	Both mutations were previously described as loss-of-function mutations in patients with @DISEASE$ and nonsyndromic @PHENOTYPICFEATURE$.	has_symptom
+584300a9680ee06c1547bc055dbd1c9d4061df35	Cochlear implantation in @DISEASE$ and non-syndromic @PHENOTYPICFEATURE$ - clinical challenges, surgical results, and complications.	has_symptom
+dd0ca7a44c78422ebfbe9121d434813bec197e6d	has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal @PHENOTYPICFEATURE$, @DISEASE$, and Cayler cardiofacial syndrome.	has_symptom
+1f2e360bc38fd1779328a3c3eb9fed035300a8b9	@DISEASE$ is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, @PHENOTYPICFEATURE$, and hypospadias.	has_symptom
+4b8a0a711082f16548b46a1f71b20679f3591100	Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, @PHENOTYPICFEATURE$, laryngealtracheoesophageal anomalies, @DISEASE$, and hypospadias.	false
+f2f661bb589b1478aa0344fc941a0bcf4a13b6b8	Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, @PHENOTYPICFEATURE$, laryngealtracheoesophageal anomalies, congenital heart defects, and @DISEASE$.	false
+ee4579b2bf10344adbf3a1682ffdb8cfd7eb6fed	@DISEASE$ is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, @PHENOTYPICFEATURE$, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias.	false
+9d7d9f246063520f39f2724ef024f0864be406f7	Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including @DISEASE$, @PHENOTYPICFEATURE$, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias.	false
+b35793b06bd16b8abaa5877f215e1b2ed158f9a8	@DISEASE$ (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+f3928a8616320dceee1bcb099842b2e86da4cb63	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ce71b5cd87150699ed4760210fd9ca8f120a5208	@DISEASE$ (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including @PHENOTYPICFEATURE$, cleft lip and palate, heart defects, and mental retardation.	false
+1729e652328c3e79a2a54e90ebeb2a9eeb93884f	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including @PHENOTYPICFEATURE$, cleft lip and palate, @DISEASE$, and mental retardation.	false
+27b7ec147b7df6f0d8fd6654c2c241fd4a7fabfa	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including @PHENOTYPICFEATURE$, @DISEASE$, heart defects, and mental retardation.	false
+bebda910cfb1c4f1e35aa518d56d7e1ca9be4c74	Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, @DISEASE$, heart defects, and @PHENOTYPICFEATURE$.	false
+e8a0c729ff0d062749e31446a1ea40ed13bbfded	@DISEASE$ (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, heart defects, and @PHENOTYPICFEATURE$.	false
+da7e32a0c2b990d85c68bbee1487d7c57d804c72	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@PHENOTYPICFEATURE$, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	has_symptom
+57468d96c57b8656ee8e0a350dc1de887747483f	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@DISEASE$, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	false
+9fc3ef13e48de4bfb0f2940e34151c1207b1fceb	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (@DISEASE$, scoliosis, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, micrognathia and broad forehead).	false
+ceaa539415cef75bc56220e59d8301fff3c805fd	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+95c28c3f138b46becbbec48d5e7ac655b1756f64	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	false
+ed9ab6abdfb846c7ca3075d2781ae076052ff7c1	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, @PHENOTYPICFEATURE$ and broad forehead).	false
+c51fb70a8194b832479470c7acd11169ddd0d30c	@DISEASE$ (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, micrognathia and broad forehead).	false
+134f5995d8dcc1175a5105b2d91c456229209709	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (short stature, @DISEASE$, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+5223e94d5c769e4de128e6a06700e0270179058d	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, @PHENOTYPICFEATURE$ and dysmorphic features (@DISEASE$, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead).	false
+731f5ba8d61fe53fc9f4b5eb846866ccd71ad565	Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, @DISEASE$, clinodactyly, @PHENOTYPICFEATURE$, small or prominent low set ears, micrognathia and broad forehead).	false
+e26e1bac181ac3589bedbfe73bafacee4bb73810	This first published long-term follow-up of @DISEASE$ shows progressive posterior @PHENOTYPICFEATURE$, axial myopia, and band keratopathy with only a small decline in visual function over time.	has_symptom
+7f8832fb351809cb0aedc0ca8b443277a6bbf4a8	@DISEASE$ (SD) is an autosomal recessive skeletal dysplasia of the @PHENOTYPICFEATURE$ (SEMD) type.	has_symptom
+d0be6dfc44bac979747154eda8b55671c19c4356	SPONASTRIME dysplasia (SD) is an autosomal recessive @PHENOTYPICFEATURE$ of the @DISEASE$ (SEMD) type.	false
+babad0a873e5e0010daea7d7ee5e1d4544e914ae	@DISEASE$ (SD) is an autosomal recessive @PHENOTYPICFEATURE$ of the spondyloepimetaphyseal dysplasia (SEMD) type.	false
+36551691666cc456a305afebe2ab932e990605a9	All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of @DISEASE$ such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, @PHENOTYPICFEATURE$ or short stature with or without growth hormone deficiency.	has_symptom
+d87597dffe499b51e81909aa123726de8f13e6b5	All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of @DISEASE$ such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or @PHENOTYPICFEATURE$ with or without growth hormone deficiency.	false
+22073455a97eacd7db30e5a8a321ff6161347dab	All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, @DISEASE$ or @PHENOTYPICFEATURE$ with or without growth hormone deficiency.	false
+8b4de001749ed7ae41caa5d96b885719eefb2e17	We describe two patients affected with several typical clinical signs of @DISEASE$ in addition to growth and puberty delays and @PHENOTYPICFEATURE$ not previously reported.	has_symptom
+99628d78264694c74da460873880de61f233ee73	Patients might present with a scapuloperoneal myopathy, a myopathy with postural muscle atrophy and generalized hypertrophy, an @DISEASE$, or an early onset @PHENOTYPICFEATURE$ with reducing bodies.	has_symptom
+8886acf7ec0192113b9b51296cefea6b34d1c688	We describe a constellation of distinctive @PHENOTYPICFEATURE$ in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (@DISEASE$) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively.	has_symptom
+fc1f7115495d8b9689bd59ae06962ac5d474f812	We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (@DISEASE$): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and @PHENOTYPICFEATURE$ of the right foot respectively.	false
+e098a478ef8113f3f99503c830e8e27b97ae2c13	We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (@DISEASE$) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and @PHENOTYPICFEATURE$ of the right foot respectively.	false
+ae6924afd79184a423c891164a76a84d8695a8eb	We describe a constellation of distinctive @DISEASE$ in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and @PHENOTYPICFEATURE$ of the right foot respectively.	false
+4953c687117d313de32a9a6943983af80a823d22	We report what might be a constellation of unreported @PHENOTYPICFEATURE$ in a child with @DISEASE$ type II (Mohr syndrome).	has_symptom
+acbd75ad940ee99a730a918d3d4fea3b394632b4	Psychomotor development may be delayed, usually mildly, with school difficulties and @PHENOTYPICFEATURE$ more common in patients with (UPD@DISEASE$.	has_symptom
+cc1eb2973ea7259f5b1832d69af8304a7cebd60e	It is important that ophthalmic providers are aware of the high prevalence of myopia, astigmatism, and @PHENOTYPICFEATURE$ in children with infantile @DISEASE$ treated with ERT because they are potentially amblyogenic but treatable factors.	has_symptom
+b8a4d06b2d1fa6ce7d36f517b53755128bc7d8b8	This manuscript describes a combination of @PHENOTYPICFEATURE$, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset @DISEASE$, who survived through enzyme therapy.	has_symptom
+66ddc0ff8a47113e65d3f5fc1ddbbe814b87a07a	@PHENOTYPICFEATURE$ in @DISEASE$: common genetic background in infantile and adult series.	has_symptom
+4d13044e1ca963e40ae3887ae99d68f2e6799882	This study summarizes this information with a systematic literature review; reports the ocular histologic findings seen in a deceased infant with Pompe disease who was receiving enzyme replacement therapy and in a deceased adult with late-onset @DISEASE$; and notes the new observation of @PHENOTYPICFEATURE$ in children with infantile-onset Pompe disease who are receiving enzyme replacement therapy.	has_symptom
+3b45b24764495b10652426eac2f8c2080e5fc170	This study summarizes this information with a systematic literature review; reports the ocular histologic findings seen in a deceased infant with Pompe disease who was receiving enzyme replacement therapy and in a deceased adult with late-onset Pompe disease; and notes the new observation of @PHENOTYPICFEATURE$ in children with infantile-onset @DISEASE$ who are receiving enzyme replacement therapy.	has_symptom
+302ffd3c06ba685981af9a6a46c876d17d81536f	This study summarizes this information with a systematic literature review; reports the ocular histologic findings seen in a deceased infant with @DISEASE$ who was receiving enzyme replacement therapy and in a deceased adult with late-onset Pompe disease; and notes the new observation of @PHENOTYPICFEATURE$ in children with infantile-onset Pompe disease who are receiving enzyme replacement therapy.	has_symptom
+bc264fc9e2aae730008e29d3442d3228d8d58841	The assets of this report are a thorough description of new clinical findings, namely the combination of @PHENOTYPICFEATURE$, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset @DISEASE$ through enzyme therapy.	has_symptom
+f4715536c6effd83249e7799cc2832b69a4e9ea2	The combination of @PHENOTYPICFEATURE$, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset @DISEASE$.	has_symptom
+ab1aad2aceeba72450beadf542483de78de2856f	Based on these clinical and histologic reports, patients with @DISEASE$ may have an increased incidence of ocular abnormalities, such as @PHENOTYPICFEATURE$ and strabismus, and therefore should undergo ophthalmologic examination.	has_symptom
+ece02bd6924931ec2a90af3591d8ca951ece474e	@DISEASE$ (EPPK) is an autosomal dominant skin disorder characterized by @PHENOTYPICFEATURE$ associated with histologic findings of hyperkeratosis and epidermolysis.	has_symptom
+cbed3490fdcd7b119df08b053258cc4840c6c1af	Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant @DISEASE$ characterized by hyperkeratosis of the palms and soles associated with histologic findings of @PHENOTYPICFEATURE$ and epidermolysis.	false
+193b7622e6aae946bf3261ec484e42412c3dfe68	@DISEASE$ (EPPK) is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles associated with histologic findings of @PHENOTYPICFEATURE$ and epidermolysis.	false
+944006d9958f507fbaa0abd0eeb875ca17d54bf0	Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant skin disorder characterized by @DISEASE$ associated with histologic findings of @PHENOTYPICFEATURE$ and epidermolysis.	false
+111e1d0def2dc95936957625fd86b7eab505b85e	@DISEASE$ is an autosomal dominant skin disorder characterized by @PHENOTYPICFEATURE$.	has_symptom
+abf7a552667bf165b5a11555ee2270ae21af7a56	@DISEASE$ (EPPK) (V?rner-Unna-Thost) is an autosomal dominantly inherited skin disease of unknown etiology characterized by diffuse severe @PHENOTYPICFEATURE$ and, histologically, by cellular degeneration.	has_symptom
+3c007c3003dc5d49010f6e6eccd069d7121f5502	Case of @DISEASE$ with @PHENOTYPICFEATURE$ and peculiar skin histological findings.	has_symptom
+d1eb59053a8182d2e900486acefe6846aa6e2c02	We report on a 14-year-old boy with clinical findings consistent with a diagnosis of @DISEASE$, associated with @PHENOTYPICFEATURE$ and peculiar skin histological findings.	has_symptom
+e91b86c56897df82cb319ae30bed834aedc3576a	@DISEASE$, a condition described in three earlier patients, is a constellation of macrosomia, @PHENOTYPICFEATURE$, macrocephaly, and ocular abnormalities as the main findings.	has_symptom
+c42d9c4197185aee2b86ecc9cee4edd437ca39f3	MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, @DISEASE$, @PHENOTYPICFEATURE$, and ocular abnormalities as the main findings.	false
+2c4293af63f1a731459cd74879a066d130207915	@DISEASE$, a condition described in three earlier patients, is a constellation of macrosomia, obesity, @PHENOTYPICFEATURE$, and ocular abnormalities as the main findings.	false
+0969e458fc71751b30d165a9b09dadc6ccf5e9f3	Macrosomia, @PHENOTYPICFEATURE$, macrocephaly, and ocular abnormalities syndrome (@DISEASE$) has been reported in only four patients to date.	has_symptom
+8afca75d8d253db331706e11990b5e16525b4b17	Macrosomia, @DISEASE$, @PHENOTYPICFEATURE$, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date.	false
+b1d38a51546d0394de35d84fd404b0d4d754f492	Macrosomia, obesity, @PHENOTYPICFEATURE$, and ocular abnormalities syndrome (@DISEASE$) has been reported in only four patients to date.	false
+b3effc65b4997d8d6dd971f0c66ec08d672f0bcf	Macrosomia, obesity, @PHENOTYPICFEATURE$, and ocular abnormalities @DISEASE$ (MOMO syndrome) has been reported in only four patients to date.	false
+fed7187d1da4d8fab8ec95484b61fb953d56c610	Macrocephaly, @PHENOTYPICFEATURE$, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of @DISEASE$.	has_symptom
+4e6ebf2dafba77e37271db189968f11ba02b4cfc	Macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (@DISEASE$) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.	has_symptom
+35b1d300d57646905078c0d0669214ab0ed5c4df	Macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized @DISEASE$.	false
+3967144c2f3fb138eedce11075308c4464e87479	Macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (@DISEASE$) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.	false
+f65803663da298a86bda137459b342a4dd92d143	Macrosomia, @DISEASE$, @PHENOTYPICFEATURE$ and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.	false
+2add45d870745b0a27ef8b842b7a1af5e26225dc	The combination of @PHENOTYPICFEATURE$, macrocephaly, and colobomas is unique, therefore these features can be used as major diagnostic criteria of @DISEASE$.	has_symptom
+d89a0362ccea663c81345e8099bfb15d37bb8467	The combination of @DISEASE$, @PHENOTYPICFEATURE$, and colobomas is unique, therefore these features can be used as major diagnostic criteria of MOMO syndrome.	false
+e37eb6cafcbe95e132c94d27961332d301d805bb	The combination of obesity, @PHENOTYPICFEATURE$, and colobomas is unique, therefore these features can be used as major diagnostic criteria of @DISEASE$.	false
+7e1ccba060e22387a222e8009242ef0038b9d857	This is a case report of macrosomia, @PHENOTYPICFEATURE$, macrocephaly and ocular abnormalities (@DISEASE$) associated with autism.	has_symptom
+d2ce1fe1893d85218a75d7ec60e0d707c9151646	This is a case report of macrosomia, @DISEASE$, macrocephaly and ocular abnormalities (MOMO syndrome) associated with @PHENOTYPICFEATURE$.	false
+7f81399265553db3e9f1b93da8ba1ee107801ea9	This is a case report of macrosomia, obesity, @PHENOTYPICFEATURE$ and ocular abnormalities (@DISEASE$) associated with autism.	false
+f269a2e4975d05c0c1510686f4d0e706ed36fa88	This is a case report of macrosomia, obesity, macrocephaly and ocular abnormalities (@DISEASE$) associated with @PHENOTYPICFEATURE$.	false
+69b6fb4e6380280753ac3163c1d2af58af5016ce	This is a case report of macrosomia, @DISEASE$, @PHENOTYPICFEATURE$ and ocular abnormalities (MOMO syndrome) associated with autism.	false
+cf47aad1af0bd172ae0abdf5f4e35b4bec078d6a	Sinonasal-type @DISEASE$ (SHP) and @PHENOTYPICFEATURE$ of the (conventional) hemangiopericytoma/solitary fibrous tumor family (HP/SFT) are characterized by prominent vasculature.	has_symptom
+358990a47dd9b61f0cf9da1dde1759df321d0253	Sinonasal-type hemangiopericytoma (SHP) and @PHENOTYPICFEATURE$ of the (conventional) @DISEASE$/solitary fibrous tumor family (HP/SFT) are characterized by prominent vasculature.	has_symptom
+929d500ac8d244e93c8434bba319a2f0b7f7d783	Sinonasal-type hemangiopericytoma (SHP) and @PHENOTYPICFEATURE$ of the (conventional) hemangiopericytoma/@DISEASE$ family (HP/SFT) are characterized by prominent vasculature.	has_symptom
+3f591c41811918922b163be785a94b22191ebf0a	Primary pleural hemangiopericytoma-like @PHENOTYPICFEATURE$: an unusual @DISEASE$ of the pleura (2007: 4b).	has_symptom
+d31503ada9680cfeb347e62393745baff8794a02	Primary pleural @DISEASE$-like @PHENOTYPICFEATURE$: an unusual localized fibrous tumor of the pleura (2007: 4b).	has_symptom
+161e43a8f39a8d90cd7f27e0c70a5ee51ed4cd40	Pulmonary lipomatous @DISEASE$: report of a rare @PHENOTYPICFEATURE$ and comparison with solitary fibrous tumor.	has_symptom
+74685cdc1c13e28a23b836a762936751064ec98a	Pulmonary lipomatous hemangiopericytoma: report of a rare @PHENOTYPICFEATURE$ and comparison with @DISEASE$.	has_symptom
+018c814f5291a73776d74c12ad4c51c158356c68	Bulky cardiac metastasis of intracranial solitary fibrous tumor/@DISEASE$: Delayed metastasis after cranial @PHENOTYPICFEATURE$ resection.	has_symptom
+436114eb14b18a25f2693c02aa7f512355f058e0	Bulky cardiac metastasis of intracranial @DISEASE$/hemangiopericytoma: Delayed metastasis after cranial @PHENOTYPICFEATURE$ resection.	has_symptom
+fbd72d4e20da88f6485e4cd3b0a4a5f0804beb91	[@DISEASE$ (extrapleural solitary fibrous @PHENOTYPICFEATURE$).	has_symptom
+4c1ac90aabd92bd56f258f84fbd2a6789fcccf7d	Malignant primary pulmonary @PHENOTYPICFEATURE$ with hemangiopericytoma-like features: conventional @DISEASE$ versus solitary fibrous tumor.	has_symptom
+e3bfbbf1125b0a4f2e243e52f79f05ee19588174	Malignant primary pulmonary @PHENOTYPICFEATURE$ with @DISEASE$-like features: conventional hemangiopericytoma versus solitary fibrous tumor.	has_symptom
+3a9d723f2da19ee9535ee692d9b9b99037e66768	Malignant primary pulmonary @PHENOTYPICFEATURE$ with hemangiopericytoma-like features: conventional hemangiopericytoma versus @DISEASE$.	has_symptom
+875fac24dd30c3368f219c1d5e97ac2a29712f53	@DISEASE$-like intranasal @PHENOTYPICFEATURE$.	has_symptom
+04035f8b9193cf549f0c46799c15ad06cd1ad0f4	Hemangiopericytoma/@DISEASE$ is a very rare @PHENOTYPICFEATURE$ of uncertain malignant potential.	has_symptom
+673c4272b4914f683d6eda385a7076f31285a9f2	@DISEASE$/solitary fibrous tumor is a very rare @PHENOTYPICFEATURE$ of uncertain malignant potential.	has_symptom
+8db9859c3eaab23e4a791896931fa4e8e914cac8	New insights into the @DISEASE$/solitary fibrous tumor spectrum of @PHENOTYPICFEATURE$.	has_symptom
+bd4a9d1224b3edcae84f5c17ba937859c00f6310	New insights into the hemangiopericytoma/@DISEASE$ spectrum of @PHENOTYPICFEATURE$.	has_symptom
+dbbc878688a2cdb85dce937c9a6cd21be1bcd6cc	Intracavernous hemangiopericytoma/@DISEASE$ is an extremely rare @PHENOTYPICFEATURE$, with only seven cases reported.	has_symptom
+1ca6e6595a819fce96590a5ac23ff3254db52e17	Intracavernous @DISEASE$/solitary fibrous tumor is an extremely rare @PHENOTYPICFEATURE$, with only seven cases reported.	has_symptom
+a46624cf8070f1332ab728f9fa42e6cb0d45ef7a	In the present study, the most common pattern of CM-related lesions by MRI was radiological meningitis, following by Virchow-Robin (VR) dilatation, @PHENOTYPICFEATURE$, intracerebral nodules and pseudocysts, which was different from previous studies reporting that the main MR findings of cerebral @DISEASE$ in HIV-infected patients include dilated VR spaces, masses and pseudocysts.	has_symptom
+90c0f32cc89ea4fb6ac70af8b93d9d355659ed48	@DISEASE$ (NPH) is an autosomal recessive interstitial nephritis leading to terminal @PHENOTYPICFEATURE$ around puberty.	has_symptom
+1c7d1c712262ce62b97b1074270d116d357aded3	@DISEASE$ features sodium wasting, anemia, and @PHENOTYPICFEATURE$.	has_symptom
+675839011890758d674dfd80db337b24b56bb2b3	We present two female siblings with @DISEASE$ (FJN) which was diagnosed at the early stage of @PHENOTYPICFEATURE$.	has_symptom
+fbb65318ba8fbc8881811a5d72ad7d6d141aff3e	Nephronophthisis (previously described as @DISEASE$ and medullary cystic disease) is characterized by insidious @PHENOTYPICFEATURE$, its main features being increased urinary sodium loss, pitressin-resistant hypotomic polyuria, polydipsia, normal urine sediment and absence of hypertension.	has_symptom
+90d3f1adbdf053f7b71a79dc000e866fd8001af3	@DISEASE$-medullary cystic disease complex (JN-MCD) is an autosomal inherited renal disease with insidious symptoms that ultimately progresses to @PHENOTYPICFEATURE$.	has_symptom
+9f9ffdb503378471b81d833f00f1baa384152be6	At least 8 months of follow-up were available for 19 eyes, including aphakic glaucoma, 8 eyes; neovascular glaucoma, 2 eyes; previous failed filter, 6 eyes; total collapse of the anterior chamber with leucoma adherence, 1 eye; @PHENOTYPICFEATURE$ due to mesodermal dysgenesis, 1 eye; and @DISEASE$, 1 eye (whose fellow eye had received twice failed filtering procedures).	has_symptom
+55edff52bba1cecc293b95fd62c5a192286632f2	@PHENOTYPICFEATURE$ filtering surgery with adjunctive antifibrosis therapy (particularly with mitomycin C), aqueous shunt surgery and cyclodestructive procedures are currently undertaken in patients with @DISEASE$.	has_symptom
+226ef02234aa92f19a9922a46950caa594089a9d	@PHENOTYPICFEATURE$ drainage device implantation is efficacious for the treatment of @DISEASE$ patients when multiple angle surgeries fail.	has_symptom
+26c88617548749dccd9d557ac44cfaaf6d0c8817	@PHENOTYPICFEATURE$ suspect was the most prevalent category in this study followed by glaucoma associated with acquired ocular anomaly and @DISEASE$.	has_symptom
+e521ace093ed58b5b84b8ac901be57aafc4f8982	Polarimetric measurements were obtained using the nerve fiber analyzer (NFA)-I from 80 eyes of patients with glaucoma with mostly moderate @PHENOTYPICFEATURE$ optic nerve damage (37 eyes with primary open angle glaucoma, 21 with normal tension glaucoma, 17 with pseudoexfoliative glaucoma, 3 with angle closure glaucoma, and 2 with @DISEASE$), 53 eyes of patients suspected of glaucoma based on disc appearance, and from age-matched healthy volunteers as control groups.	has_symptom
+fd29d1ed6530ae33ba48dd0cb5c2893cf0296a41	The study retrospectively evaluated a series of 99 PSP patients with @DISEASE$ (PSP-RS), subgrouped according to cognitive and behavioural performances into PSP with normal cognition (PSP-NC), PSP with mild @PHENOTYPICFEATURE$ (PSP-MCI), and PSP with dementia (PSP-D).	has_symptom
+7734b91e905c68e2f922a7f57664214135322084	Disruption of liver immune tolerance allows for the development of @DISEASE$ (AIH) and @PHENOTYPICFEATURE$ (HCC).	has_symptom
+0ed62dfb1612bfbc7c7cfa9136b532d83feff3c3	PD-1 immunobiology in @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+fb17796482b0303f85af9977eb06043b6ba7dd0a	The relationship between the fragile X syndrome (@DISEASE$) and @PHENOTYPICFEATURE$ is reviewed.	has_symptom
+570b204a955d21b5e83659933bdb3d59a4208f73	The relationship between the @DISEASE$ (FXS) and @PHENOTYPICFEATURE$ is reviewed.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+acbd53bf9d1ed87f48966dda6192e2d0eb0132b7	The size of lobules VI-VII/intracranial area was dependent on @PHENOTYPICFEATURE$ status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with autism with respect to @DISEASE$ only.	has_symptom
+efc25d4526668c23a453e103ac069c5035bb39c0	The size of lobules VI-VII/intracranial area was dependent on autism status only in @DISEASE$, with ratios significantly larger in fragile X syndrome with @PHENOTYPICFEATURE$ with respect to fragile X syndrome only.	has_symptom
+86f6d4751cb971dfa79943e9350ea52cbf3313ae	The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in fragile X syndrome with @PHENOTYPICFEATURE$ with respect to @DISEASE$ only.	has_symptom
+7f65fdd5ccea777b62a4bcec23c2c9535270bc5e	The size of lobules VI-VII/intracranial area was dependent on autism status only in fragile X syndrome, with ratios significantly larger in @DISEASE$ with @PHENOTYPICFEATURE$ with respect to fragile X syndrome only.	has_symptom
+7ff78762c1718caa33cffc8c484ea5d95074fd34	The size of lobules VI-VII/intracranial area was dependent on @PHENOTYPICFEATURE$ status only in @DISEASE$, with ratios significantly larger in fragile X syndrome with autism with respect to fragile X syndrome only.	has_symptom
+3b92d7b82a4b67373c70ec69d3e828d253a6c48c	The size of lobules VI-VII/intracranial area was dependent on @PHENOTYPICFEATURE$ status only in fragile X syndrome, with ratios significantly larger in @DISEASE$ with autism with respect to fragile X syndrome only.	has_symptom
+ebc4c3c4737c9d738f6eac4f7b22b52512df59f9	Substantial phenotypic overlap exists between fragile X syndrome (@DISEASE$) and @PHENOTYPICFEATURE$, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism.	has_symptom
+2cfb39b50ffd2bac39a893f5e8ec5bfa6859fdf9	Substantial phenotypic overlap exists between fragile X syndrome (@DISEASE$) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for @PHENOTYPICFEATURE$.	has_symptom
+601c37c077bc66f2d60eacaee89e17e1585887fd	Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing @DISEASE$) poses a significant risk for @PHENOTYPICFEATURE$.	has_symptom
+efbec99a5d8930815aca81cc33f5e0b3cedf93ba	Substantial phenotypic overlap exists between @DISEASE$ (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for @PHENOTYPICFEATURE$.	has_symptom
+73f62cec84117efcb4be6fe6dab945e7f40ba12f	Substantial phenotypic overlap exists between @DISEASE$ (FXS) and @PHENOTYPICFEATURE$, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism.	has_symptom
+7e53000875063dbf0a43d0da91c5dd760e41d2df	Substantial phenotypic overlap exists between fragile X syndrome (FXS) and @PHENOTYPICFEATURE$, suggesting that FMR1 (the gene causing @DISEASE$) poses a significant risk for autism.	has_symptom
+6edad91d36464ee84a5d709ba7544ff502bb64e1	[@DISEASE$ complicated by @PHENOTYPICFEATURE$].	has_symptom
+38a73419b8df2ebbaad074b25b99dfe0e41cb5d5	Males with fragile X syndrome and autism (@DISEASE$/@PHENOTYPICFEATURE$) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes.	has_symptom
+b0c9bb14c3edf31d2e0a98a2b54c230326b59fbf	Males with @DISEASE$ and @PHENOTYPICFEATURE$ (FXS/autism) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes.	has_symptom
+39b472868d7f87b68d9ae42b3c2e900e6b277b7a	Males with fragile X syndrome and autism (FXS/@PHENOTYPICFEATURE$) represent a distinct subgroup of males with @DISEASE$ at risk for markedly poorer outcomes.	has_symptom
+947093dcfe89a595a8b53719dc281655d733379c	Males with @DISEASE$ and autism (FXS/@PHENOTYPICFEATURE$) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes.	has_symptom
+09a54749fb494d7099674b741b3d5a46a6386ffc	Males with fragile X syndrome and @PHENOTYPICFEATURE$ (@DISEASE$/autism) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes.	has_symptom
+360dc01a44269e843a1814de1c23be380f687f62	Males with fragile X syndrome and @PHENOTYPICFEATURE$ (FXS/autism) represent a distinct subgroup of males with @DISEASE$ at risk for markedly poorer outcomes.	has_symptom
+ccc17753eab15338ee6037ed2d394962fe7e2470	Between 2 and 6% of children with autism have @DISEASE$, and approximately 3% of children with FXS have @PHENOTYPICFEATURE$.	has_symptom
+dfeccc671ff49c39ab45e54fb46eb50b1014f2c6	Between 2 and 6% of children with autism have FXS, and approximately 3% of children with @DISEASE$ have @PHENOTYPICFEATURE$.	has_symptom
+c7879dd7c28e8c3ae6bc778cd6f74affeb7d5744	Between 2 and 6% of children with @PHENOTYPICFEATURE$ have FXS, and approximately 3% of children with @DISEASE$ have autism.	has_symptom
+02b152ab94a5844c6467492179683413774d878b	Between 2 and 6% of children with @PHENOTYPICFEATURE$ have @DISEASE$, and approximately 3% of children with FXS have autism.	has_symptom
+6dd5fa94297e366cd43505de51d71d07ebf506dd	The efficacy of melatonin for sleep problems in children with @PHENOTYPICFEATURE$, fragile X syndrome, or autism and @DISEASE$.	has_symptom
+61a7c432a561badcfeb29229a11580cb6032854b	The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2545504398b8d4c64dabc6c5c986a8a9d333359b	The efficacy of melatonin for sleep problems in children with autism, @DISEASE$, or @PHENOTYPICFEATURE$ and fragile X syndrome.	has_symptom
+3dc5a6749f339d671341c42196a7d279bdfa7fad	The efficacy of melatonin for sleep problems in children with @PHENOTYPICFEATURE$, @DISEASE$, or autism and fragile X syndrome.	has_symptom
+ff92d60a62215f3b4c7acdb41df55caa07d20312	Children with both @PHENOTYPICFEATURE$ and FXS were substantially more delayed than children with autism or @DISEASE$ alone.	has_symptom
+caf8beafc71b7505618c339f50884eff97494711	Children with both @PHENOTYPICFEATURE$ and @DISEASE$ were substantially more delayed than children with autism or FXS alone.	has_symptom
+5ba3e0ba1b6349047062c92b2906190676d34449	Children with both autism and FXS were substantially more delayed than children with @PHENOTYPICFEATURE$ or @DISEASE$ alone.	has_symptom
+a3aa5533b1243bd96334163632d521bfe2a48315	Children with both autism and @DISEASE$ were substantially more delayed than children with @PHENOTYPICFEATURE$ or FXS alone.	has_symptom
+ab119d840feb600f2248d90ad5af59f3544a551a	A smaller three-group analysis compared boys with @DISEASE$, boys with @PHENOTYPICFEATURE$, and boys with both FXS and autism.	has_symptom
+786376554a0671f2f6ded8a8841c58b974d62784	A smaller three-group analysis compared boys with @DISEASE$, boys with autism, and boys with both FXS and @PHENOTYPICFEATURE$.	has_symptom
+b4470ee36e16286894c4909b283017e584aa0140	A smaller three-group analysis compared boys with FXS, boys with @PHENOTYPICFEATURE$, and boys with both @DISEASE$ and autism.	has_symptom
+6faa53612420d8cbdddff5eec56487f6e6c446fd	A smaller three-group analysis compared boys with FXS, boys with autism, and boys with both @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+4aef9065692787c207b8f77e5092dfbcb8ac1f01	@DISEASE$ (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like @PHENOTYPICFEATURE$, diarrhoea and abdominal pain.	has_symptom
+e7b0e511f71202e40bcfaec9032dbd221cfcdd0b	Hereditary angioedema (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like @DISEASE$, diarrhoea and @PHENOTYPICFEATURE$.	false
+a687964ecebd7871dba1deb940c59338be20db62	Hereditary angioedema (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of @DISEASE$ like vomiting, diarrhoea and @PHENOTYPICFEATURE$.	false
+9c3b5e0ed01585e0703dd9847b00b49bc72763af	@DISEASE$ (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like vomiting, diarrhoea and @PHENOTYPICFEATURE$.	false
+00a48b7d3bf55fd68d1a976b500d34c712e6d0f9	Hereditary angioedema (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like vomiting, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1299957898c407b18810f6d299a84c142e2ef5b0	During a laryngeal attack, people with @DISEASE$ may be at risk of suffocation, while other attacks are often associated with intense pain, disfigurement, disability, and/or @PHENOTYPICFEATURE$.	has_symptom
+61d265fcff02299ce0871a288f2b09a033ef44e1	@DISEASE$ is characterised by recurrent episodes of peri-orbital and peri-oral swelling which can cause an upper airway obstruction, abdominal pain, @PHENOTYPICFEATURE$, diarrhoea, and even hypotensive collapse.	has_symptom
+934a65713724c30d009b1390d72cc74f75b708f9	Hereditary angioedema is characterised by recurrent episodes of peri-orbital and peri-oral swelling which can cause an upper airway obstruction, @PHENOTYPICFEATURE$, vomiting, @DISEASE$, and even hypotensive collapse.	false
+095ddb3140225e3a652708ddacdc47ef21ce6695	Hereditary angioedema is characterised by recurrent episodes of peri-orbital and peri-oral swelling which can cause an upper airway obstruction, @PHENOTYPICFEATURE$, @DISEASE$, diarrhoea, and even hypotensive collapse.	false
+597a68750139b0fa0ce503d1ea34b010d8a8775d	@DISEASE$ is characterised by recurrent episodes of peri-orbital and peri-oral swelling which can cause an upper airway obstruction, @PHENOTYPICFEATURE$, vomiting, diarrhoea, and even hypotensive collapse.	false
+b4a863554c289e1d738db136a969db4fa95a5519	Abdominal edema attacks in patients with @DISEASE$ are often extremely painful, associated with @PHENOTYPICFEATURE$ and diarrhea, and have a high potential for causing recurrent disability of the patient.	has_symptom
+f827eeab14be56d107fe798e45c708ca76e880fd	Abdominal @PHENOTYPICFEATURE$ attacks in patients with @DISEASE$ are often extremely painful, associated with vomiting and diarrhea, and have a high potential for causing recurrent disability of the patient.	false
+7cdd36e7d95afead951ebc327e51eb52c9146213	Abdominal @PHENOTYPICFEATURE$ attacks in patients with hereditary angioedema are often extremely painful, associated with @DISEASE$ and diarrhea, and have a high potential for causing recurrent disability of the patient.	false
+9c00145d23ec8cd78a59f99332f5a560ce6b654b	Abdominal @PHENOTYPICFEATURE$ attacks in patients with hereditary angioedema are often extremely painful, associated with vomiting and @DISEASE$, and have a high potential for causing recurrent disability of the patient.	false
+bd08ebd7bb3456ee3b553049e9d4175d3b14c9ff	Among children with @DISEASE$, children with more speech errors and classified as childhood apraxia of speech (n = 7) and ataxic @PHENOTYPICFEATURE$ (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors.	has_symptom
+bcdee9748d03b3fd1eac08cf6375a5139fe4ffed	Among children with galactosemia, children with more speech errors and classified as childhood apraxia of speech (n = 7) and @PHENOTYPICFEATURE$ @DISEASE$ (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors.	false
+988f3777d16aeb957a34097d412c410beb951382	Among children with @DISEASE$, children with more speech errors and classified as childhood apraxia of speech (n = 7) and @PHENOTYPICFEATURE$ dysarthria (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors.	false
+d2c16ace51f6d16e71655cbabd01074007abc132	The patients were consisted of 2 patients with KSS, 1 patient with probable KSS, 15 patients with ocular @PHENOTYPICFEATURE$, 1 patient with myoclonus epilepsy with ragged-red fibers (MERRF), 6 patients with @DISEASE$ (MELAS), 5 patients with undefined mitochondrial encephalomyopathy and 8 patients with mitochondrial myopathy.	has_symptom
+8d9b464c30f01a21d293c8e002a6f449eb277cca	Clinical features included @DISEASE$, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, visual impairment, @PHENOTYPICFEATURE$, and peripheral neuropathy.	has_symptom
+297e6ba1e7ce370f27b804287a548b39bc2b38b6	Clinical features included @DISEASE$, periodic obtundation, psychosis, @PHENOTYPICFEATURE$, intracerebral hemorrhage, myelopathy, visual impairment, deafness, and peripheral neuropathy.	false
+b704102dea4cf81d6e4584fb85fa43ad302d6bef	Clinical features included hemiplegic migraine, periodic obtundation, psychosis, @PHENOTYPICFEATURE$, intracerebral hemorrhage, myelopathy, visual impairment, @DISEASE$, and peripheral neuropathy.	false
+583dbb3149349fa50be918e6d0f2bef104da4ea8	Clinical features included @DISEASE$, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, visual impairment, deafness, and @PHENOTYPICFEATURE$.	false
+946533819f59e61853ac1ca070f2ea48a5ce535c	Clinical features included hemiplegic migraine, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, visual impairment, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+18c67805959db4816a9edfa307baac3e54cef239	Clinical features included hemiplegic migraine, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, @PHENOTYPICFEATURE$, @DISEASE$, and peripheral neuropathy.	false
+57e11d997763fdf523d11006972b2d2f4957ff09	Clinical features included @DISEASE$, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, @PHENOTYPICFEATURE$, deafness, and peripheral neuropathy.	false
+043bfb911305eabc0a507be16286f8aa621b9892	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, @DISEASE$, @PHENOTYPICFEATURE$, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	has_symptom
+a607010d73d472c5d0c9590110feac95aaf20b7d	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, @DISEASE$, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+8b074de34b6394af46e5bcd9d4b56ff1533e061a	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (@DISEASE$ and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+978afe67610e3d6cffe4d576319c2fef834a235f	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT @DISEASE$), and interesting parallels in mechanisms of disease emphasized.	false
+c8d9a354813a7a2c85b2a9414b297fb226583740	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (@DISEASE$ syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+c2493ef3e1982c799b3faec4f19206a4086367af	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, @DISEASE$, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+8cceddc79522e49df0cf80c660b04db7bcba46ec	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, @DISEASE$, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+0e926572a3d56e125afe90c633fe478a37ce7bcc	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, @DISEASE$, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+a05ff0bef807f3656fc1a311703482814bc43b17	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, @DISEASE$, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+ab50d913d91825dd6eef517534b4984030316d60	Unique among reviews of this topic is that all known human @DISEASE$ of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+44c0e9bd455a45c0b6b4611b7d7a4ed6de0bdae7	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+deced42f143a774aa06ea30956e050cd6a9a5963	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8f8acfb6fe45e111c5afd054b427aa76dc88321	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+582de948f182060b2f3a38a37cca19de51d1686a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f6b66d8010d3c70bade26d87c00b22888290c70b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a7d226ee2d0de060501a8c7811ecff11a4cad9b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e87bdf8f51a252f63db361acb2044d9a09fe7e05	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+76bb89c637ca00b5591898eef12d0472645e93ad	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+42ee28825bd1bcc503632386a6056e39d4804edb	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+467abe1462f82c5b9a288e8ca7b2b2f46d353c16	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8913138d37787c18055ad7ce71536a1ae0c1de36	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc9238af4ebe4b43abf8ca498786845dba152080	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa0c35720c95530267bda1f6c359b9976493c051	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @DISEASE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ddb0cb1e0a4a84a9ef8e35f2815d671a5cba1e28	Eye findings included @PHENOTYPICFEATURE$ in two patients, and @DISEASE$ in one.	has_symptom
+ec2e818d8da2bb7804327750efbc945f531477f4	In some cases, @PHENOTYPICFEATURE$ or more rarely @DISEASE$ is noted.	has_symptom
+0fdd89bc6c91f13daf2e9f867a39a5faf7bd3bc5	The older brother had a severe form of @DISEASE$ associated with macular degeneration and total @PHENOTYPICFEATURE$, whereas the younger brother presented typical X-linked retinitis pigmentosa.	has_symptom
+27964e6c4cc1152c09a41568032de77afcbec98f	The older brother had a severe form of retinitis pigmentosa associated with macular degeneration and total @PHENOTYPICFEATURE$, whereas the younger brother presented typical X-linked @DISEASE$.	has_symptom
+9814c9dd7753610139bd80f22cf967f41e47e593	The older brother had a severe form of @DISEASE$ associated with @PHENOTYPICFEATURE$ and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa.	false
+4eb1285710d0f0986c27ee4418b165060fa037d3	The older brother had a severe form of retinitis pigmentosa associated with @PHENOTYPICFEATURE$ and total optic atrophy, whereas the younger brother presented typical X-linked @DISEASE$.	false
+f6b35f58db0d5a96511ccf0caf4a078371ad39aa	The older brother had a severe form of retinitis pigmentosa associated with @PHENOTYPICFEATURE$ and total @DISEASE$, whereas the younger brother presented typical X-linked retinitis pigmentosa.	false
+a2ab55afa9cc7e4484346e49392896aa98e1ca4c	The mother was a carrier of both @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+7cb4374ba90c3557449bb7640096f6553d5bc279	The primary causes were @PHENOTYPICFEATURE$, myopic macular degeneration, @DISEASE$, and uveitis.	has_symptom
+c6ac7dd82e00c74e8eb1cda1833ce846c8a28766	@PHENOTYPICFEATURE$, @DISEASE$, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur.	has_symptom
+34a3d7a7ad424ac8018e1c9f7e1f167397d04acb	@DISEASE$, @PHENOTYPICFEATURE$, diabetic retinopathy and refractive anomalies were the most frequent diseases (13-19%).	has_symptom
+e79e4c54c525fd8c2961d40a36746466d9ecf180	@DISEASE$ and @PHENOTYPICFEATURE$ are associated findings.	has_symptom
+aca79cb966bf2142fd0a1b1a4219a6a39849bd69	The association between HMSN and @DISEASE$ or @PHENOTYPICFEATURE$ is sometimes described.	has_symptom
+dd4767003a6397146c95ecdc5ee9cac123e4b4b3	Visual rehabilitation of patients with advanced stages of glaucoma, @PHENOTYPICFEATURE$, myopia or @DISEASE$.	has_symptom
+20ca07638e94dbd0c7006368c2bde77879881def	@DISEASE$ and associated @PHENOTYPICFEATURE$: type, frequency, and impact on management.	has_symptom
+bc1811090037eea70a6d1521a27d2fce1c0a9801	@PHENOTYPICFEATURE$ (CVM) associated with @DISEASE$ (CDH) account in part for the high mortality caused by this defect.	has_symptom
+49020a1ff90ecd73142a5d24a15218ba9f85bc7b	These are; ple21 in limbic encephalitis; PCD17, CDR62, CDR34, and CZF in paraneoplastic cerebellar degeneration; one of the anion transporters band 3 in @DISEASE$; visinin-like substance in cancer-associated retinopathy (CAR syndrome); myelin basic protein (MBP) and proteolipid protein (PLP) in acute disseminated encephalomyelitis; MBP, PLP and myelin-oligodendrocyte glycoprotein (MOG) in multiple sclerosis; glutamic acid decarboxylase in stiff-man syndrome; GM1 ganglioside in amyotrophic lateral sclerosis; peripheral nerve K+ channel in Isaacs syndrome; synaptotagmin in Lambert-Eaton syndrome; acetylcholine receptor in myasthenia gravis; GM1 ganglioside in Guillain-Barr? syndrome; GQ1b ganglioside in Fisher syndrome; myelin-associated glycoprotein in IgM paraproteinemic neuropathy; HuD in paraneoplastic @PHENOTYPICFEATURE$; and tRNA and HSP65 in polymyositis.	has_symptom
+3b3bc3b66fb42fd1b1b8c9eed87b15068f0f777d	Facial and bulbar weakness in @DISEASE$ cause chewing and @PHENOTYPICFEATURE$, recurrent aspiration, and poor control of oral secretions.	has_symptom
+045c63b49916b99db25ead4491702ba4d86400f5	@PHENOTYPICFEATURE$ is a hallmark of pachyonychia congenita (PC) and focal non-@DISEASE$ (FNEPPK).	has_symptom
+8d7bf6aa025356b543cc714461d3f56b05407b94	An autosomal dominant form of diffuse non-@DISEASE$, @PHENOTYPICFEATURE$ of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to defective epidermal-water-barrier function in the epidermis of the palms and soles.	has_symptom
+3e5343820120afeb860339b7bb25e977446829f6	@DISEASE$ (CADASIL) is a genetically linked neurologic disease characterized by recurrent strokes and progressive or stepwise dementia, with or without migraine-like headaches, @PHENOTYPICFEATURE$, and pseudobulbar palsy.	has_symptom
+1e6887e9891213d9ebc878ce43e6ce9547bfafdf	@DISEASE$ (CADASIL) is a genetic disease characterized by ischemic stroke with early onset, migraine, @PHENOTYPICFEATURE$, and vascular dementia.	has_symptom
+af0c03a34d5c25271ad9beda42fc3af23dd8a7ff	@DISEASE$ (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarts and Leukoencephalopathy) includes some neurological signs and symptoms (gait disturbances, @PHENOTYPICFEATURE$, pseudobulbar palsy, migraines, etc.), as well as neuropsychological dysfunctions (cognitive and executive impairment, emotional disorders and, frequently, dementia).	has_symptom
+25757f1760e20cd3bf1d5885d430633d79e1e570	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	has_symptom
+1d1c81cd2e23b8e3d64802bcded2c24cf1006545	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @PHENOTYPICFEATURE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	has_symptom
+bddc620043ed877e3c2b23607ce8fa9dbe1e3677	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+ce2d976fc7dfb0ad902ed1ad4392325ef6350dcf	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @DISEASE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+e2cd19de4a0179e20254a98988795ca6067dc70a	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+aa22b11c4ce544ca238f726495d22dae43c0b226	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+6283ca164a781ab95d31f651440767c5b3155530	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @DISEASE$, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+47d6d4a4f790c640cb87725eb40811085869f2fd	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+926394c86768636d5a394a9628496c9e2ebf1861	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+65ecb520eedc3f612c802fa92683d5f845a11f2e	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+aefd13d2b8b4cea268741d7b3d86d49cb61397be	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+d3bb9fbf6ffad775e46a4a0c8f13b458f5f4205f	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+2ef64ef5a8cc8892b684d13cf8f8e2ed22bdcbf2	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+767845f4025345c11c7fadf1f1736d68c695dabb	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+ae50a1d3f8315bcb6196d844d60814a8cb70f3a3	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, @DISEASE$, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+fba9c268005b4e791af0e40ce65dc95eed141dc2	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, @PHENOTYPICFEATURE$, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.	false
+5b033025f1da3fc1f071c50bae32281505071fae	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by @DISEASE$, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+c6ef651b7179381a1725b8c920ca9e52cfb9d968	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+41822c881263d812d5739a2489d940d69af2d096	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical @DISEASE$ features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, @PHENOTYPICFEATURE$, and cognitive impairment of variable degree.	false
+1235adf9fed55ac605a8c9c1cf508a447846d060	Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, @DISEASE$, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+1e2a550fdf60c68ea678b2bd984b1c6c5e7590b1	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	has_symptom
+86f70929cc585c702b64446065e4c09f980150f6	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, @PHENOTYPICFEATURE$, and anomalies in cardiac and genitourinary systems.	has_symptom
+1649a4d865252e95f96f1413ac20a97054650ca3	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by @DISEASE$, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+418add33a6f9d82e023535708a8af034697a9145	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+e9b7860db882bd2791d676b5d85add3dc7d1c063	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+2132c5b68237279cb4757a9ca400534a2e891fc7	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, @DISEASE$, and anomalies in cardiac and genitourinary systems.	false
+ee9831135af02d74aac4f29fef1551a443bbfdba	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, @DISEASE$, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+063afe62dcc99688299a7383adfc262f6372d7e5	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, @DISEASE$, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+eb15d24271f70b9d0e2a8fa6606bb7d45054380d	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+be817dbe39afc01a2af714cd66b6923f659716f7	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+ceb1e9d837813b824b5b554cc9fd741f67e0fc1c	Johanson-Blizzard syndrome (JBS) is a rare @DISEASE$ characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+b6a8459401b3a78cc009e91ae4c368b471018ccd	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, @DISEASE$, and anomalies in cardiac and genitourinary systems.	false
+24674a8b7b0c96be425c82bd3ea8a729ebcf24da	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, @DISEASE$, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+f9551b292bf6216ebb07dd7f8df4022f84245389	Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by @DISEASE$, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+e00f22fa74a73dafab7b34718be26d93f29acc6a	@DISEASE$ (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, @PHENOTYPICFEATURE$, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+397f9648dbba9e263d5bfeb5cf3d68e8d0dc937f	Johanson-Blizzard syndrome (JBS) is a rare @DISEASE$ characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, @PHENOTYPICFEATURE$, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems.	false
+0f84cb65065f3d286153e8bfe12c4dd551122f94	@DISEASE$ is a rare autosomal recessive disorder characterized by aplasia of the alae nasi, aplasia cutis, @PHENOTYPICFEATURE$, postnatal growth retardation and pancreatic exocrine aplasia.	has_symptom
+f724a0335d0ccd596d72f024897d48ef56a2fd44	@DISEASE$ (JBS) is an autosomal recessively inherited disorder that is characterized by pancreatic insufficiency, a distinct appearance with hypo- or aplasia of the alae nasi and @PHENOTYPICFEATURE$.	has_symptom
+fdf7508570fbbfac334b47d4101ca9231b6339aa	Johanson-Blizzard syndrome (@DISEASE$) is an autosomal recessively inherited disorder that is characterized by pancreatic insufficiency, a distinct appearance with hypo- or aplasia of the alae nasi and @PHENOTYPICFEATURE$.	has_symptom
+b6a483763792021a167ed0c9c0c8dc57a8e84c3e	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying @DISEASE$, a multisystemic disorder characterized by @PHENOTYPICFEATURE$, blindness, polydactyly, renal abnormalities and cognitive impairment.	has_symptom
+615d71bce2f27c789248a5b28a994c7bb08038e2	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying @DISEASE$, a multisystemic disorder characterized by obesity, blindness, @PHENOTYPICFEATURE$, renal abnormalities and cognitive impairment.	false
+cb42e4d56b37bb555991d5bb706f859edc549235	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying @DISEASE$, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and @PHENOTYPICFEATURE$.	false
+df030132b629cf7bf58add9d85e1d7e658f171a5	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by @DISEASE$, blindness, polydactyly, renal abnormalities and @PHENOTYPICFEATURE$.	false
+3a36a07ac64aa0f73f277e588e163a927b8ed39c	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by @DISEASE$, blindness, @PHENOTYPICFEATURE$, renal abnormalities and cognitive impairment.	false
+ab32708d1efd217f400c20bffbdf04f020639077	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying @DISEASE$, a multisystemic disorder characterized by obesity, @PHENOTYPICFEATURE$, polydactyly, renal abnormalities and cognitive impairment.	false
+7ab10b57c18cad4578333d04e6167f4fc053a286	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a @DISEASE$ characterized by obesity, @PHENOTYPICFEATURE$, polydactyly, renal abnormalities and cognitive impairment.	false
+bda8b9a3a4ac64134aabf8913d730cd05395ddff	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a @DISEASE$ characterized by obesity, blindness, @PHENOTYPICFEATURE$, renal abnormalities and cognitive impairment.	false
+56c81b272c696c59cdf3e7c6460705ee8fa8d766	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a multisystemic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, renal abnormalities and cognitive impairment.	false
+70d5d968f93e605f356ae324d792d7a3b44b6c01	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying Bardet-Biedl syndrome type 3, a @DISEASE$ characterized by obesity, blindness, polydactyly, renal abnormalities and @PHENOTYPICFEATURE$.	false
+7c7f0054b23a2fed16d727401795336c7bb1db0f	@DISEASE$ (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or @PHENOTYPICFEATURE$ lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage.	has_symptom
+57b94125d21bb1e55d2ad70fb1b69869099d4095	Hypocomplementemic urticarial vasculitis (HUV) is a rare form of @DISEASE$ characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant @PHENOTYPICFEATURE$.	false
+a2308dad68a668e496eb45154da5430484e9d7b6	Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or @DISEASE$ lesions, often associated with extracutaneous involvement but usually with no significant @PHENOTYPICFEATURE$.	false
+26e82e531795705ce3e677fba7d10cb663a66e5d	@DISEASE$ (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant @PHENOTYPICFEATURE$.	false
+559ee04d300b066c3073162e8d962384b81c2e33	@DISEASE$ is characterized by the presence of osteoporosis, joint contractures, fragile bones, and @PHENOTYPICFEATURE$.	has_symptom
+bf38a82b0c969ac006259aac4eba86f3fcd04135	@DISEASE$ is characterized by the presence of osteoporosis, @PHENOTYPICFEATURE$, fragile bones, and short stature.	false
+377db71e9f887e945d0eb5b76824d61b93a36880	Bruck syndrome is characterized by the presence of osteoporosis, @PHENOTYPICFEATURE$, fragile bones, and @DISEASE$.	false
+f5df8146b786d13b063f88e7a940c6604d35fa16	@DISEASE$ (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and @PHENOTYPICFEATURE$.	has_symptom
+6dfe93f5092ebfd593c53aad79f56c679dca15f4	The Children's Social Behavior Questionnaire (CSBQ) was compared with the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (@DISEASE$), and clinical classification in children with mild and moderate @PHENOTYPICFEATURE$ (ID), to investigate its criterion related validity.	has_symptom
+1f4aaa67d56bf23bbd1660d42829487234350199	The presence of primary neurodegeneration, @PHENOTYPICFEATURE$, skin and immune system involvement, or renal tubular acidosis may point to rarer osteopetrosis variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of @DISEASE$.	has_symptom
+855fea9eb289d16169bc04c9adb30e65c06f09e3	The presence of primary neurodegeneration, @DISEASE$, skin and immune system involvement, or renal tubular acidosis may point to rarer @PHENOTYPICFEATURE$ variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO.	false
+9c63207a6d9bc95167fd0a1db9968eecbb57635c	The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer @PHENOTYPICFEATURE$ variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of @DISEASE$.	false
+884339e5b867d3d9ce54e5459c116686ca468e7b	The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or @DISEASE$ may point to rarer @PHENOTYPICFEATURE$ variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of ADO.	false
+d356f44be05aae1b821c1a19553ee64d2bfdfea0	The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer @PHENOTYPICFEATURE$ variants, whereas onset of primarily skeletal manifestations such as fractures and @DISEASE$ in late childhood or adolescence is typical of ADO.	false
+72ba720e343b1de6b6b769d2e4ca5fde54f26177	The DISCO-11, Autism Diagnostic Observation Schedule (@DISEASE$), and Social Communication Questionnaire (SCQ) were administered to a Dutch sample of 115 children comprising 52 children with ASD (both with and without intellectual disability), 26 children with @PHENOTYPICFEATURE$ (non-ASD), and 37 typically developing children.	has_symptom
+fd17e913c30050ad9ce4ec7e0b72d26c9394c0ac	In contrast to dominant MYH6 mutations with variable penetrance identified in other @DISEASE$ and dilated cardiomyopathy, this study reveals compound heterozygosity for recessive MYH6 mutations in patients with @PHENOTYPICFEATURE$ and reduced systemic right ventricular ejection fraction.	has_symptom
+b945416a472db71499720cb99e61ee8db1fd24dc	In contrast to dominant MYH6 mutations with variable penetrance identified in other congenital heart defects and dilated cardiomyopathy, this study reveals compound heterozygosity for recessive MYH6 mutations in patients with @DISEASE$ and reduced systemic @PHENOTYPICFEATURE$ ventricular ejection fraction.	false
+ab397204746ba35e9d9e9557a62dbfaeabe8d869	In contrast to dominant MYH6 mutations with variable penetrance identified in other congenital heart defects and @DISEASE$, this study reveals compound heterozygosity for recessive MYH6 mutations in patients with hypoplastic left heart and reduced systemic @PHENOTYPICFEATURE$ ventricular ejection fraction.	false
+94271c48a0c8fb302c584992290ec0b3a21c0676	In contrast to dominant MYH6 mutations with variable penetrance identified in other @DISEASE$ and dilated cardiomyopathy, this study reveals compound heterozygosity for recessive MYH6 mutations in patients with hypoplastic left heart and reduced systemic @PHENOTYPICFEATURE$ ventricular ejection fraction.	false
+4b2c148b9f4e38526583859b25c40fbd5b9d3922	Blepharophimosis, ptosis and @PHENOTYPICFEATURE$: further delineation of @DISEASE$.	has_symptom
+74a1b32f07204f656421178bf177492f73ab2d0c	Blepharophimosis, @PHENOTYPICFEATURE$ and @DISEASE$: further delineation of Ohdo syndrome.	false
+0ff9ae04a68ca803a94e57f91eb92ff42dc103e3	Blepharophimosis, @PHENOTYPICFEATURE$ and mental retardation: further delineation of @DISEASE$.	false
+ce7c227d4f66b659f1755a44d13f54b8ef41a964	A boy with @PHENOTYPICFEATURE$, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and @DISEASE$.	has_symptom
+77bf475568349c45c35fd3ba0888ae9db140a268	Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or @DISEASE$) is a multiple anomaly syndrome characterized by severe @PHENOTYPICFEATURE$, blepharophimosis, and a mask-like facial appearance.	has_symptom
+71eb2717edccc0e5c8e34b36aba225cbbe16de15	A @PHENOTYPICFEATURE$ girl with congenital blepharophimosis, ptosis, abnormal teeth and other features consistent with @DISEASE$ is reported.	has_symptom
+28b794a6381282abfbb1bb5fd3c68f012f43866c	A @DISEASE$ girl with congenital blepharophimosis, ptosis, @PHENOTYPICFEATURE$ and other features consistent with Ohdo syndrome is reported.	false
+5a195bfff9afe85766bd612841345f8eb1b31710	A @DISEASE$ girl with congenital blepharophimosis, @PHENOTYPICFEATURE$, abnormal teeth and other features consistent with Ohdo syndrome is reported.	false
+8b032e13def3dd347931c049ebeb76443a504045	A mentally retarded girl with congenital blepharophimosis, ptosis, @PHENOTYPICFEATURE$ and other features consistent with @DISEASE$ is reported.	false
+b23ab8d5e1405f5fdb7b068cd3f9484a1aece198	A mentally retarded girl with congenital @DISEASE$, ptosis, @PHENOTYPICFEATURE$ and other features consistent with Ohdo syndrome is reported.	false
+0611463e9cd4f6d7ac85b78aafdab03147a20b99	A mentally retarded girl with congenital @DISEASE$, @PHENOTYPICFEATURE$, abnormal teeth and other features consistent with Ohdo syndrome is reported.	false
+56f163f6e8541d4a81aff9b894aaaeb09a47521e	A mentally retarded girl with congenital blepharophimosis, @PHENOTYPICFEATURE$, abnormal teeth and other features consistent with @DISEASE$ is reported.	false
+207deac6670e64a98f899b30469a92b1503e7cb1	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and @PHENOTYPICFEATURE$.	has_symptom
+de5fc5f6bad3cb8c90fa74bbe80b871de15eec28	Ohdo syndrome (MIM 249620) is a multiple @DISEASE$ characterized by blepharophimosis, ptosis, dental hypoplasia, @PHENOTYPICFEATURE$ and intellectual disability.	false
+73a0a0be8206ba1a504e8941a63216c433dd769a	Ohdo syndrome (MIM 249620) is a multiple @DISEASE$ characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, hearing impairment and intellectual disability.	false
+f1f27de0a13cb123ce2e1456ad68051e8b6ff220	Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2e81edd53d65a942521ee9f97d708bf141b3d7c0	Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, hearing impairment and @DISEASE$.	false
+7b4cba9867c2358b42511c680a430fc522ed2b01	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, @PHENOTYPICFEATURE$, dental hypoplasia, hearing impairment and intellectual disability.	false
+f1bf71c42583a710b6b673de6759407391379772	@DISEASE$ (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, @PHENOTYPICFEATURE$ and intellectual disability.	false
+7af19db87b4c0756d44267645e43bca53c0dadd5	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of @DISEASE$ is characterized by congenital hypothyroidism, facial dysmorphism, postaxial polydactyly, and @PHENOTYPICFEATURE$.	has_symptom
+d2836ea0e5340331e7a7f3c8cd9b843eed5db755	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$, postaxial polydactyly, and mental retardation.	false
+72721713f598773f8528e4fd20bd144c4a2a16e0	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of @DISEASE$ is characterized by congenital hypothyroidism, @PHENOTYPICFEATURE$, postaxial polydactyly, and mental retardation.	false
+88fbb5403c50f4b3b0b7929a9e004709d9215f06	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by congenital hypothyroidism, @PHENOTYPICFEATURE$, postaxial polydactyly, and @DISEASE$.	false
+960a5caf049542d430f5ee5590583d1cb7fb4de7	The cardinal features of @DISEASE$ (MIM 259050) are dysmorphic facial features, macrocephaly, and @PHENOTYPICFEATURE$, as well as large body size, height and weight, and calcified pinnae.	has_symptom
+5dedcd9c14f9591f740c11caa62b20479665469e	The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, and intellectual disability, as well as large body size, height and weight, and calcified pinnae.	false
+82b3556e1f29c861b1cb48269259689033ae0304	The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, @PHENOTYPICFEATURE$, and @DISEASE$, as well as large body size, height and weight, and calcified pinnae.	false
+2b3a5aebede4879e91ab5e80ce4d63243056c800	The cardinal features of @DISEASE$ (MIM 259050) are dysmorphic facial features, @PHENOTYPICFEATURE$, and intellectual disability, as well as large body size, height and weight, and calcified pinnae.	false
+1ff30e88604f1eae31f8e2788c29ad073a9bb5e5	@DISEASE$ is characterized by unusual facial features, macrocephaly, @PHENOTYPICFEATURE$, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting.	has_symptom
+5ac92b5ba017c982ee212690a97e46c1ecbb488e	Primrose syndrome is characterized by unusual facial features, @PHENOTYPICFEATURE$, intellectual disability, enlarged, and calcified external ears, sparse body hair, and distal @DISEASE$.	false
+4c973a750a83e924702068ec1b47372b156e9a03	Primrose syndrome is characterized by unusual facial features, @PHENOTYPICFEATURE$, @DISEASE$, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting.	false
+3467b10efd860bd91d1ced8b90918e32eb682858	@DISEASE$ is characterized by unusual facial features, @PHENOTYPICFEATURE$, intellectual disability, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting.	false
+cb8d73afd48814df477c9606538735b12d9d853b	@DISEASE$ is a congenital malformation syndrome characterized by @PHENOTYPICFEATURE$, developmental delay, progressive muscle wasting, and ear lobe calcification.	has_symptom
+7bbe1ed791981203f0103daa8385d90cd716d85a	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including @PHENOTYPICFEATURE$, macrocephaly, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	has_symptom
+f2a4a5a15b82f8de80478d45bc14106ad5a43aec	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, macrocephaly, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+bba73009ae68c30cb5d0323c60039d35ef1bf0af	Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including @DISEASE$, macrocephaly, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+f5a89332609a01deceeda326fe57df9bf91cd5c2	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, @PHENOTYPICFEATURE$, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	false
+ee85d9041091b994e3a3ea2716145928547a6d73	Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including @DISEASE$, @PHENOTYPICFEATURE$, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	false
+6c285b85cc6120e21988661ca00d95b5ae9d319a	Primrose syndrome (PRIMS), a rare @DISEASE$ with several clinical findings including intellectual disability, macrocephaly, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+52b531d67d913b93aa08142cf098c6f5812bbb3b	Primrose syndrome (PRIMS), a rare @DISEASE$ with several clinical findings including intellectual disability, @PHENOTYPICFEATURE$, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene.	false
+59dbc3df9ee92b662cc5292ba9fd384112e97222	@DISEASE$ is a unique condition of @PHENOTYPICFEATURE$, dysmorphic facial features, and specific minor abnormalities including large calcified ear auricles.	has_symptom
+19d1e9d4fd780f5edb87172c233833252e56d0dd	@DISEASE$ (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of @PHENOTYPICFEATURE$, hearing problems, cataracts, brain calcification, and the ossification of ear cartilage.	has_symptom
+248244895cacb3f899e423272dba053f94d1387d	Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of @DISEASE$, hearing problems, @PHENOTYPICFEATURE$, brain calcification, and the ossification of ear cartilage.	false
+9a604d6b594504886bdc1f5c8e593f0b16b6bb4b	@DISEASE$ (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability, hearing problems, @PHENOTYPICFEATURE$, brain calcification, and the ossification of ear cartilage.	false
+1da6b9c6cdf2a038f77c4688665f1b7f90dea588	New case of @DISEASE$ with mild @PHENOTYPICFEATURE$.	has_symptom
+9bf2d36137fe75083c6a4ccaaf4bcfb289fad913	@DISEASE$ (PS) is a rare disorder characterized by macrocephaly, tall stature, @PHENOTYPICFEATURE$, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood.	has_symptom
+4427705ad4d2dae614ce80a38a9a5e9cacffc412	Primrose syndrome (PS) is a rare disorder characterized by @PHENOTYPICFEATURE$, tall stature, @DISEASE$, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood.	false
+314035471a3ab88576c3bb9ee995267eef10993d	@DISEASE$ (PS) is a rare disorder characterized by @PHENOTYPICFEATURE$, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood.	false
+0072d91eef3b59c3cc0fcb8f2b5746338924a826	Anophthalmia with cleft palate and @PHENOTYPICFEATURE$: a new syndrome or an unusual presentation of @DISEASE$?	has_symptom
+01bf57f4b4c5d0db14967ddbbdf31d857f618678	Anophthalmia with @PHENOTYPICFEATURE$ and @DISEASE$: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?	false
+c8ae24d75d7b53f99fc9ce5ef4e3937abbde0dbe	Anophthalmia with @PHENOTYPICFEATURE$ and micrognathia: a new syndrome or an unusual presentation of @DISEASE$?	false
+bb07a5a7f3061a9f9036e142c42473dbb0d8a8d3	All members with diagnostic codes for @DISEASE$ were identified and the three most frequent diagnoses were unspecified intellectual disability, autism or @PHENOTYPICFEATURE$, and cerebral palsy.	has_symptom
+f87de1fd73a5031771d03f63e5ee348249b0b281	All members with diagnostic codes for IDD were identified and the three most frequent diagnoses were unspecified @PHENOTYPICFEATURE$, autism or @DISEASE$, and cerebral palsy.	false
+0f39e2418aa9262b14e1cb7427243d498986b39d	All members with diagnostic codes for IDD were identified and the three most frequent diagnoses were unspecified intellectual disability, @PHENOTYPICFEATURE$ or @DISEASE$, and cerebral palsy.	false
+65a93acf2db000d1a128e7d23741132c3912fa18	All members with diagnostic codes for @DISEASE$ were identified and the three most frequent diagnoses were unspecified intellectual disability, @PHENOTYPICFEATURE$ or pervasive developmental disorder, and cerebral palsy.	false
+d8223ea515a5268f899fb4fa585f9e456c4b36ed	All members with diagnostic codes for @DISEASE$ were identified and the three most frequent diagnoses were unspecified @PHENOTYPICFEATURE$, autism or pervasive developmental disorder, and cerebral palsy.	false
+8da07e0ad4b9add09ec0168492517c28e462ada3	Thrombopoietin-mediated tyrosine phosphorylation of proteins was impaired in platelets from 20 patients with @DISEASE$ and 3 with idiopathic myelofibrosis, but not in 4 patients with essential @PHENOTYPICFEATURE$, 3 with chronic myelogenous leukemia, 6 with secondary erythrocytosis, 2 with iron-deficiency anemia, 4 with hemochromatosis, or 5 normal subjects.	has_symptom
+da548aba1050e1e1eac45f9be8f77db80838c4bf	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, @PHENOTYPICFEATURE$, and developmental delay.	has_symptom
+c5a090494d61ad4d1e99825dbd350f522f66ad12	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @PHENOTYPICFEATURE$, intellectual disability, cardiac abnormalities, and developmental delay.	false
+eb1a9fe1af1439c6a72ae51015333b77b49ed000	Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @PHENOTYPICFEATURE$, intellectual disability, @DISEASE$, and developmental delay.	false
+7e3fefa176598cf72e9956bd81c65c8f20274857	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, @PHENOTYPICFEATURE$, cardiac abnormalities, and developmental delay.	false
+9636732a043338a3519966232bf0e070e052680d	Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, @PHENOTYPICFEATURE$, @DISEASE$, and developmental delay.	false
+d0771061ec20002990f2b20cae6f2cdd489704c9	Detailed examination demonstrated features consistent with @DISEASE$ (NS), including typical facies, @PHENOTYPICFEATURE$, a cardiac defect, and a history of a coagulopathy.	has_symptom
+0d8827f15ef3bc96e6b061059ddd574c914fb273	@DISEASE$ NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical facial dysmorphism, @PHENOTYPICFEATURE$ and variable congenital heart defects.	has_symptom
+d3e60cbf096784e21f0694086079e125aabd5d35	@DISEASE$ NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical @PHENOTYPICFEATURE$, growth retardation and variable congenital heart defects.	false
+a69076a40f9cf4c3236758c3b098073ded150fb2	Noonan syndrome NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical facial dysmorphism, @DISEASE$ and variable @PHENOTYPICFEATURE$.	false
+44f620159fcaefa116b972ce6bf1ffa4eb6a7ed3	@DISEASE$ NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical facial dysmorphism, growth retardation and variable @PHENOTYPICFEATURE$.	false
+7c43ea9e90cb2144b71f265f98db89dad299e279	Noonan syndrome NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical @PHENOTYPICFEATURE$, @DISEASE$ and variable congenital heart defects.	false
+dd846cc471fdfba31bab4f8ebcacb519c0c98f3b	It is difficult to discriminate Verheij syndrome from @DISEASE$, both have clinical manifestations such as severe @PHENOTYPICFEATURE$, psychomotor retardation, and congenital heart disease.	has_symptom
+676a486778999090b741a619dac34e35dcbb62c0	These include @DISEASE$ (NS), Noonan syndrome with multiple lentigines (NSML), (cardiofaciocutaneous CFC) syndrome, and Costello syndrome (CS), clinical manifestations include @PHENOTYPICFEATURE$, developmental delay, cardiac defects, and specific dysmorphic features.	has_symptom
+61062f2f5d55e4aff93c251edaac06fbfc5e9e0a	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal @PHENOTYPICFEATURE$ in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, short stature homeobox-containing (SHOX) gene mutations, and @DISEASE$.	has_symptom
+158ce04138f6893d337b31e130eed8be6b8acd39	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic @PHENOTYPICFEATURE$, short stature homeobox-containing (SHOX) gene mutations, and @DISEASE$.	false
+9c98131bd3c1d63e72087f9268c8f0f53b496187	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with @DISEASE$ who do not demonstrate catchup growth, idiopathic short stature, @PHENOTYPICFEATURE$ homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+f6790df91703861373718c540958fbd0c9b1724b	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, @DISEASE$, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic @PHENOTYPICFEATURE$, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+366565b3c7877ee34b5cd02ab7f0f140dc3e3af4	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, @DISEASE$, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic @PHENOTYPICFEATURE$, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+ea0904ec9d0ef486a9f5d54e88d2d1426a46f88a	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with @DISEASE$ who do not demonstrate catchup growth, idiopathic @PHENOTYPICFEATURE$, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+897a8a3809ca760336ea5e95c44d3fef2d2da22e	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including @DISEASE$, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, @PHENOTYPICFEATURE$ homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+261dfba323d2a788b1a439bd310584476894416b	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, @PHENOTYPICFEATURE$ homeobox-containing (SHOX) gene mutations, and @DISEASE$.	false
+0c7f408730c7d36eeca1238122732d8d55707206	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, @DISEASE$, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, @PHENOTYPICFEATURE$ homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+47f491afb60fa7a0b20e97a5b8c7c980f7a386d6	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, @DISEASE$, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, @PHENOTYPICFEATURE$ homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+de318d54e9a96fae503ec0f1b030718469ef58df	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including @DISEASE$, Turner syndrome, Prader-Willi syndrome, postnatal growth delay in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic @PHENOTYPICFEATURE$, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+f8a67b0e125d5205c71e08577633aba0685ee1f9	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal @DISEASE$ in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic @PHENOTYPICFEATURE$, short stature homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+e73b87c398e92b2d3fd92f9bb6dd32db5013a3ce	GH therapy also has beneficial effects on statural growth in several conditions characterized by GH insensitivity, including chronic renal failure, Turner syndrome, Prader-Willi syndrome, postnatal @DISEASE$ in patients with intrauterine growth retardation who do not demonstrate catchup growth, idiopathic short stature, @PHENOTYPICFEATURE$ homeobox-containing (SHOX) gene mutations, and Noonan syndrome.	false
+fb164e1295e815d61447860ef6c174507fcfa984	Some of the ML/LS clinical features are the same as those of the @DISEASE$ (NS), such as congenital cardiac abnormalities, dysmorphia and @PHENOTYPICFEATURE$.	has_symptom
+dfa47fa2cf9530cb3db3d3972b008930441cdf90	Some of the ML/LS clinical features are the same as those of the @DISEASE$ (NS), such as congenital @PHENOTYPICFEATURE$, dysmorphia and growth retardation.	false
+f31984f9d2c8e2e809a2a925a1ac3da10e4b49fb	Some of the ML/LS clinical features are the same as those of the Noonan syndrome (NS), such as congenital @PHENOTYPICFEATURE$, dysmorphia and @DISEASE$.	false
+20fed467d6e2468c45570d2184c95d06be5984fc	Germline mutations of PTPN11 are causative of @DISEASE$ and LEOPARD syndrome in humans in which there are recognized skeletal abnormalities that include @PHENOTYPICFEATURE$, spinal curvature and chest malformations.	has_symptom
+28450d6387a5f3c59a556b8c43be706a705cf542	Germline mutations of PTPN11 are causative of Noonan syndrome and LEOPARD syndrome in humans in which there are recognized @PHENOTYPICFEATURE$ that include @DISEASE$, spinal curvature and chest malformations.	false
+340741f1bc2e76da03def70f7f094fc9e279d4e6	Germline mutations of PTPN11 are causative of @DISEASE$ and LEOPARD syndrome in humans in which there are recognized @PHENOTYPICFEATURE$ that include growth retardation, spinal curvature and chest malformations.	false
+75705d75c11d8a7adc01ce0009a3b6d10262ebde	Germline mutations of PTPN11 are causative of Noonan syndrome and @DISEASE$ in humans in which there are recognized @PHENOTYPICFEATURE$ that include growth retardation, spinal curvature and chest malformations.	false
+dfa6d99bf638e92e9e2691bf71106eb30d825c6f	@PHENOTYPICFEATURE$ is a constant feature of @DISEASE$ (NS) but its physiopathology remains poorly understood.	has_symptom
+e1b3e29f06ee37c37a064870ada92473b105ecca	@DISEASE$ (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, @PHENOTYPICFEATURE$, cardiac abnormalities, and learning difficulties.	has_symptom
+32f6ad459f9d20602a0f51315d845a263098bc91	Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, and learning difficulties.	false
+e6fe48f8992c867f60a6688d212f14f09e3a4ba7	@DISEASE$ (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, @PHENOTYPICFEATURE$, and learning difficulties.	false
+38bb2cec170cb1d6d749f9742cd7d1b9c2327d72	@PHENOTYPICFEATURE$ is a relatively consistent feature of @DISEASE$ but a standardized growth curve for height has never been calculated.	has_symptom
+8d79bf59dbbec68898da8c7357a57afaf4398dab	ATP- and ATP+ ubiquitin-stimulated proteolysis in rat liver and Yoshida @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+eb368907a48e010cd61ddd0a859b67b2b81d7651	Furthermore, it is shown that rats inoculated with experimental tumor lines, i.e., the Yoshida @DISEASE$ @PHENOTYPICFEATURE$ tumor and the Walker 256 carcinosarcoma growing in ascites or as solid tumor, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	has_symptom
+ff80d96b0fe83fdab76bf441d15cd9ad744d24b2	Furthermore, it is shown that rats inoculated with experimental tumor lines, i.e., the Yoshida hepatoma @DISEASE$ tumor and the Walker 256 carcinosarcoma growing in ascites or as solid @PHENOTYPICFEATURE$, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	false
+9964a5bcb17586513ecf931b61e447d5688147c6	Furthermore, it is shown that rats inoculated with experimental @PHENOTYPICFEATURE$ lines, i.e., the Yoshida @DISEASE$ ascites tumor and the Walker 256 carcinosarcoma growing in ascites or as solid tumor, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	false
+9428cdf74043d1257826a9c9e615a35a457d3a45	Furthermore, it is shown that rats inoculated with experimental tumor lines, i.e., the Yoshida @DISEASE$ ascites @PHENOTYPICFEATURE$ and the Walker 256 carcinosarcoma growing in ascites or as solid tumor, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	false
+f8bbeb0afe39446dfe6e15fdf042ad1df6ed1303	Furthermore, it is shown that rats inoculated with experimental tumor lines, i.e., the Yoshida hepatoma @DISEASE$ @PHENOTYPICFEATURE$ and the Walker 256 carcinosarcoma growing in ascites or as solid tumor, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	false
+19da3c25416935f6dc32dc82ab2063cc12ab3d86	Furthermore, it is shown that rats inoculated with experimental tumor lines, i.e., the Yoshida @DISEASE$ ascites tumor and the Walker 256 carcinosarcoma growing in ascites or as solid @PHENOTYPICFEATURE$, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	false
+150df76c9d6a9d43f0425e04e5aa5654ecce24c9	Furthermore, it is shown that rats inoculated with experimental @PHENOTYPICFEATURE$ lines, i.e., the Yoshida hepatoma @DISEASE$ tumor and the Walker 256 carcinosarcoma growing in ascites or as solid tumor, exhibit significantly decreased SS* per mole IgG which corresponds to a selective diminution of IgG2b.	false
+f200f88789ecd1ab799fbb42d8a3349ec22ad86d	We have shown that HpaII site (-105 b.p.) of TAT gene is methylated in those cells where TAT gene does not function (thymus, spleen, Zajdela @PHENOTYPICFEATURE$ hepatoma) and is demethylated in TAT gene expressing @DISEASE$ 7777 and normal rat hepatocytes.	has_symptom
+6346695fa9bb421bed5a9be239e4af807b9e26e4	We have shown that HpaII site (-105 b.p.) of TAT gene is methylated in those cells where TAT gene does not function (thymus, spleen, Zajdela @PHENOTYPICFEATURE$ @DISEASE$) and is demethylated in TAT gene expressing hepatoma 7777 and normal rat hepatocytes.	has_symptom
+51e535bc54f4e90b2e6ac072458763aabbe765fc	Differences in antigenic structure of chromatin from normal and tumour cells were studied using rabbit antibodies against chromatin of the rat liver, Zaidela @PHENOTYPICFEATURE$ hepatoma and solid @DISEASE$ 27 cells.	has_symptom
+9f5f680d4cfef0e388bef654288a1ce1abcff9d2	Differences in antigenic structure of chromatin from normal and tumour cells were studied using rabbit antibodies against chromatin of the rat liver, Zaidela @PHENOTYPICFEATURE$ @DISEASE$ and solid hepatoma 27 cells.	has_symptom
+68b58b31bad7e6a9a5f9fe8577fa2f9f923629dc	Differences in antigenic structure of chromatin from normal and @PHENOTYPICFEATURE$ cells were studied using rabbit antibodies against chromatin of the rat liver, Zaidela ascite @DISEASE$ and solid hepatoma 27 cells.	false
+4da16c5bf7c653e4e276914d892dabf5f8a3169e	Differences in antigenic structure of chromatin from normal and @PHENOTYPICFEATURE$ cells were studied using rabbit antibodies against chromatin of the rat liver, Zaidela ascite hepatoma and solid @DISEASE$ 27 cells.	false
+9eb2766059c156d6e34162572f9b8fef117e1221	Differences in antigenic structure of chromatin from normal and @PHENOTYPICFEATURE$ cells were studied using rabbit antibodies against chromatin of the rat liver, Zaidela @DISEASE$ hepatoma and solid hepatoma 27 cells.	false
+75a6fe808b77435612ef419567e085f91197c847	@PHENOTYPICFEATURE$ @DISEASE$ cell growth was slowest in the group given the liver preparation, whereas no significant difference was noted in the growth of Walker carcinosarcoma in all groups.	has_symptom
+fb68ef08431c8e7f17af9cbf234513857fbe7422	Immunofluorescence analysis of cell lines with differently organized actin cytoskeletons (A431 cells, HeLa cells, mouse @DISEASE$ MH 22A, Zajdela @PHENOTYPICFEATURE$ hepatoma, primary human embryo skin and lung fibroblasts) gave evidence that PLC gamma 1 is colocalized only with cortical actin and not with stress fibers.	has_symptom
+eac103ec5182b8b21fcca8df9c38894f20efb4db	Immunofluorescence analysis of cell lines with differently organized actin cytoskeletons (A431 cells, HeLa cells, mouse hepatoma MH 22A, Zajdela @PHENOTYPICFEATURE$ @DISEASE$, primary human embryo skin and lung fibroblasts) gave evidence that PLC gamma 1 is colocalized only with cortical actin and not with stress fibers.	has_symptom
+df6640511cf525c845812b8884211df18827183f	Using the principle of relief of self-quenching of carboxyfluorescein [Weinstein, J. N., Yoshikami, S., Henkart, P., Blumenthal, R., & Hagins, W. A. (1977) Science 195, 489-492] upon leakage of the dye from the interior of lipid vesicles, we investigated the integrity of sonicated small unilamellar vesicles in the presence of isolated hepatocytes, Zajdela @PHENOTYPICFEATURE$ @DISEASE$ cells, and plasma membranes of either cell type.	has_symptom
+767ba10410aab99dda7824b4c1dae31416d079b6	Cytolytic mechanism of attenuated preparation (OK-432) of Streptococcus Haemolyticus against @PHENOTYPICFEATURE$ @DISEASE$, AH 130 and AH 41 C cells.	has_symptom
+970910fd1bf86f12396db1a08733f6637feb7197	[Changes in the intensity of strength of adhesion among cells of normal liver--solid hepatoma--@PHENOTYPICFEATURE$ @DISEASE$].	has_symptom
+bf0746f1264121d0cf5650ed4053485c229cb0ae	The effect of the cobamide coenzyme (5,6-dimethylbenzimidazolyl-Co-5'-deoxyadenozylcobamide, DBC) on the growth of some forms of rat tumours and on the prolongation of survival of rats with implanted Zajdela @PHENOTYPICFEATURE$ @DISEASE$ was compared with that of cyanocobalamine (5,6-dimethylbenzimidazolyl-Co-cyanocobamide, CN-B12).	has_symptom
+f976e76021c7ab43723f4a8d7fee1f698c1fdfeb	The effect of the cobamide coenzyme (5,6-dimethylbenzimidazolyl-Co-5'-deoxyadenozylcobamide, DBC) on the growth of some forms of rat @PHENOTYPICFEATURE$ and on the prolongation of survival of rats with implanted Zajdela @DISEASE$ hepatoma was compared with that of cyanocobalamine (5,6-dimethylbenzimidazolyl-Co-cyanocobamide, CN-B12).	false
+354a5c174d8b2f67751b8b72df50bf5a25618432	The effect of the cobamide coenzyme (5,6-dimethylbenzimidazolyl-Co-5'-deoxyadenozylcobamide, DBC) on the growth of some forms of rat @PHENOTYPICFEATURE$ and on the prolongation of survival of rats with implanted Zajdela ascites @DISEASE$ was compared with that of cyanocobalamine (5,6-dimethylbenzimidazolyl-Co-cyanocobamide, CN-B12).	false
+712f1396c8e23136dd42a0ed7186a2330c8e1979	Here we reported the first identification of compound heterozygous mutations (c.G338A; p.R113Q and c.C1619T; p.A540V) in the SMO gene in a patient with both anterior segment dysgenesis (congenital corneal opacity, @PHENOTYPICFEATURE$) and @DISEASE$, using trio-based whole exome sequencing.	has_symptom
+1f4893861c10e5410a653dbb8fec632bb43d805e	Here we reported the first identification of compound heterozygous mutations (c.G338A; p.R113Q and c.C1619T; p.A540V) in the SMO gene in a patient with both @PHENOTYPICFEATURE$ (congenital corneal opacity, cataract) and @DISEASE$, using trio-based whole exome sequencing.	false
+a059b7bf28ae28da2629fa614d962c71ae6a015f	Here we reported the first identification of compound heterozygous mutations (c.G338A; p.R113Q and c.C1619T; p.A540V) in the SMO gene in a patient with both @PHENOTYPICFEATURE$ (congenital corneal opacity, @DISEASE$) and morning glory syndrome, using trio-based whole exome sequencing.	false
+7e06a57a09a9783bdde5a22c6e92d03ac7af8c56	This article describes a very rare case of a @DISEASE$ in a man aged 32 years old who started from the age of 14 years having @PHENOTYPICFEATURE$ and many other epileptic manifestations that continue to the present age, being always intractable to various therapeutic regimes.	has_symptom
+3b550ac7d7c83c6a43327331782a9afb301d7db7	Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, @DISEASE$, reduced visual acuity and refractive errors, color @PHENOTYPICFEATURE$, and prominent photophobia.	has_symptom
+d2fb4322a574c4ef78f455601d93c53d93f8550b	Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, @PHENOTYPICFEATURE$ and refractive errors, color @DISEASE$, and prominent photophobia.	false
+ab8e60054fba84ce2defc2845986bbd1041a301b	Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, @DISEASE$, @PHENOTYPICFEATURE$ and refractive errors, color vision impairment, and prominent photophobia.	false
+717a4274a655fb29b83eb05d174c16175fee26d1	Isolated @DISEASE$ should be considered in the differential diagnosis of early-onset bilateral @PHENOTYPICFEATURE$, especially when the foveal reflexes seem absent.	has_symptom
+f4ee64d6315f9af358d172b116e9bdb6fe2b2d93	@DISEASE$ (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and @PHENOTYPICFEATURE$.	has_symptom
+df9ea792803a1de302044e6edc98493f1507cb44	@DISEASE$ (SEDC) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies.	false
+559b7d398b597e07975ee24ef2e58469500192f5	@DISEASE$ (SEDC) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies.	false
+8badd064c2d5b95eb2208031bcfa64ab267998dc	Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and @DISEASE$.	false
+bce386a69bffc3e77353f16c55da64e662bc863d	Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, @DISEASE$ and flattened vertebral bodies.	false
+91998b60d74ab3d1f604194e967d652fd4708bc6	Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, diminished joint mobility, dislocation of hip, absent femoral head ossification, @DISEASE$ and flattened vertebral bodies.	false
+039cb37f23c37f8124a5763127a9507bcacb79ea	Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and @DISEASE$.	false
+6b1985c2295dfce18d6c761d0cf04f9368b4a32b	@DISEASE$ is a multisystem disorder presenting with facial hemangiomas, arterial anomalies, @PHENOTYPICFEATURE$, posterior fossa malformations and eye abnormalities.	has_symptom
+4bc347e3ed868b1c51d817cbe6a85c778cd805a9	@DISEASE$ is a neuro-cutaneous syndrome characterized by malformations of the Posterior fossa, facial Hemangiomas, Arterial anomalies, @PHENOTYPICFEATURE$, and abnormalities of the Eye.	has_symptom
+fd7ae6dcba8cb847e899e2e14056b7694ff44468	@DISEASE$ is characterized by the association between infantile hemangioma and varied but characteristic systemic manifestations, including cerebrovascular and @PHENOTYPICFEATURE$.	has_symptom
+74aef2bcdcf99464e8d78ef792529b9ce01d80c8	Systemic manifestations of @DISEASE$ included posterior fossa malformation (n = 4), hemangioma (n = 8), arterial anomalies (n = 3), @PHENOTYPICFEATURE$ (n = 3), and sternal or ventral deformities (n = 3).	has_symptom
+c3f9a12e850a0a52feaf1c59ef1f8230e1a8c3c3	@DISEASE$ indicates a neurocutaneous syndrome including Posterior fossa malformation, large facial Hemangioma, Arterial malformation, Coarctation of the aorta and/or other @PHENOTYPICFEATURE$, and Eye abnormalities.	has_symptom
+06dcf6af73bef0ce6772f0ece8f5757f4fc5dc74	Background @DISEASE$ is a rare vascular neurocutaneous disorder characterized by posterior fossa anomalies, hemangioma, arterial anomalies, @PHENOTYPICFEATURE$ and eye anomalies.	has_symptom
+b8bf2c9e881f863981e13b968a726488618a0e7b	Background @DISEASE$ is a rare vascular neurocutaneous disorder characterized by @PHENOTYPICFEATURE$, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies.	false
+c1766a712c7ad2a6fecc4cbeb7c4db6acacac0ef	Background PHACE syndrome is a rare vascular neurocutaneous disorder characterized by @PHENOTYPICFEATURE$, hemangioma, arterial anomalies, @DISEASE$ and eye anomalies.	false
+af1cfba513eb1cf83ee654763c3e4979a5ff9de8	@DISEASE$ is a neurocutaneous disorder characterized by posterior fossa brain malformations, hemangiomas, @PHENOTYPICFEATURE$ and coarctation of aorta, eye anomalies ? sternal clefts.	has_symptom
+1be8117c3536dd44030c6d646a1459ec52e3ba38	Two of seven patients with @DISEASE$ had @PHENOTYPICFEATURE$.	has_symptom
+cbdbf91177a726ed608c7d25ed440a4ef5d2be0b	Large facial infantile hemangiomas have higher rates of complications than small localized hemangiomas, more often require treatment, and can be associated with neurological, ophthalmologic, and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+bbf0970305952746d08a98dd5e3113a850b3f091	We present two cases of @DISEASE$ (an acronym for the neurocutaneous association of posterior fossa defects, hemangiomas, arterial anomalies, @PHENOTYPICFEATURE$, and eye defects) associated with arteriovenous fistulae/malformation (AVF/AVM).	has_symptom
+a7d363adfab735128e1386b02b25bb678419663d	To clarify this question, we studied pre- and post-transplant muscle mass in a retrospective cohort of 40 patients transplanted for three diseases - alcoholic cirrhosis, non-alcoholic steatohepatitis cirrhosis, and @DISEASE$ cirrhosis - in whom allograft disease recurrence was monitored and excluded, and who lacked common post-transplant muscle wasting complications such as sepsis, @PHENOTYPICFEATURE$, ischemia, and cholestasis.	has_symptom
+1ba93213bf1c7e1d8cd992b126b4fa5c6178fb7d	Steroid-induced @DISEASE$ cataracts were associated with the presence of human leukocyte antigen (HLA) A1, but not with the patient's age, cause of @PHENOTYPICFEATURE$, total dose of steroids, or duration of steroid therapy.	has_symptom
+7a8360b1bfb448b8650087051f1cb5c31fd5011a	Steroid-induced PSC @PHENOTYPICFEATURE$ were associated with the presence of human leukocyte antigen (HLA) A1, but not with the patient's age, cause of @DISEASE$, total dose of steroids, or duration of steroid therapy.	false
+58577902a38747446ff4b8200bdaaa9d666635ad	Steroid-induced @DISEASE$ @PHENOTYPICFEATURE$ were associated with the presence of human leukocyte antigen (HLA) A1, but not with the patient's age, cause of renal failure, total dose of steroids, or duration of steroid therapy.	false
+f60ae747cc476e2244c9856db634c054d206ade8	@DISEASE$ (DISH) is associated with increasing age, @PHENOTYPICFEATURE$, and diabetes mellitus.	has_symptom
+e8ee4dc45dba8410f8a137928e1017de3b2584eb	The tendency of patients with @DISEASE$ towards @PHENOTYPICFEATURE$ or an adult onset of diabetes has been reflected in marked hyperinsulinaemia following glucose challenge.	has_symptom
+bfa498b4e3afd9aa18412742f3d0173fc876f2a3	Clinically, the presence of @DISEASE$ (DISH) has been linked to a disturbance of glucose and insulin metabolism, hypertension, dyslipidemia and @PHENOTYPICFEATURE$ associated with a rich diet.	has_symptom
+3a209bfe534937b33e5522dedd14425fe840e319	@DISEASE$ (DISH) has been associated with various metabolic disorders considered to be cardiovascular risk factors such as @PHENOTYPICFEATURE$, diabetes mellitus, hyperinsulinemia, and hyperlipidemia.	has_symptom
+354c3f172a3a60a6ec777be1b9ea7a2fcfc263c1	@DISEASE$ in diabetes mellitus, impaired glucose tolerance and @PHENOTYPICFEATURE$.	has_symptom
+558be6133c310feac4f2e2d764e700a94ae026dd	We identified studies in our personal database and PubMed using the following keywords in various combinations: "@DISEASE$", "ankylosing hyperostosis", "Forestier's disease", "diabetes", "insulin", "@PHENOTYPICFEATURE$", "metabolic", "growth factors", "adipokines", "glucose tolerance" and "chondrocytes".	has_symptom
+24331b43c0d5237e0f6a2e1c5a2c6894cd9021b6	The etiology of the condition is unknown, as the name suggests (@DISEASE$), although some correlations with diabetes mellitus, @PHENOTYPICFEATURE$, and age have been noted.	has_symptom
+d27c56e4ea5c2b6991b0edd66a1086327e879dfd	Several metabolic derangements and concomitant diseases have been suggested to be associated with @DISEASE$ including @PHENOTYPICFEATURE$, increased waist circumference, hypertension, dyslipidaemia, diabetes mellitus (DM), hyperuricaemia, metabolic syndrome and an increased risk for cardiovascular diseases.	has_symptom
+b5a227f83e0c93a8d4289a7e6cd3462c4b1c5e68	Several metabolic derangements and concomitant diseases have been suggested to be associated with @DISEASE$ including obesity, increased waist circumference, hypertension, dyslipidaemia, diabetes mellitus (DM), @PHENOTYPICFEATURE$, metabolic syndrome and an increased risk for cardiovascular diseases.	false
+1fafcbe66cd982b3bad86a017b4e3056d44ec3b1	Several metabolic derangements and concomitant diseases have been suggested to be associated with DISH including obesity, increased waist circumference, hypertension, dyslipidaemia, diabetes mellitus (DM), @PHENOTYPICFEATURE$, @DISEASE$ and an increased risk for cardiovascular diseases.	false
+435c87da01267edc3bd0317355f1d1e73e1cfbbb	Several metabolic derangements and concomitant diseases have been suggested to be associated with DISH including @DISEASE$, increased waist circumference, hypertension, dyslipidaemia, diabetes mellitus (DM), @PHENOTYPICFEATURE$, metabolic syndrome and an increased risk for cardiovascular diseases.	false
+9a078f618c6106c15c233ca47a6cbe4c91541311	Several metabolic derangements and concomitant diseases have been suggested to be associated with DISH including obesity, increased waist circumference, hypertension, dyslipidaemia, @DISEASE$ (DM), @PHENOTYPICFEATURE$, metabolic syndrome and an increased risk for cardiovascular diseases.	false
+73b78caf36d3ab596ae3e26b39595b02aa7a4044	Several metabolic derangements and concomitant diseases have been suggested to be associated with DISH including obesity, increased waist circumference, hypertension, dyslipidaemia, diabetes mellitus (DM), @PHENOTYPICFEATURE$, metabolic syndrome and an increased risk for @DISEASE$.	false
+6bdbf9a69d04fd44a37b15aa6916e66c26b135a9	Acrocallosal syndrome (@DISEASE$) is characterised by postaxial polydactyly, hallux duplication, @PHENOTYPICFEATURE$, and absence of the corpus callosum, usually with severe developmental delay.	has_symptom
+98060613afa3f8d94c38e6ac6f7f62c24f13de8a	@DISEASE$ (ACS) is characterised by postaxial polydactyly, hallux duplication, @PHENOTYPICFEATURE$, and absence of the corpus callosum, usually with severe developmental delay.	has_symptom
+1fad57cfcf8e2479b82710d25a1853c05a3a6f89	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+f1064e439aa6e6d5bdebfb121c5f9d06fcf29f1d	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+06a9b98344212d3db0cf7af8a9149a64bb340229	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @DISEASE$, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+6a868f644d792a15bfc095ad317801e360d19ad3	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+5a91c3adace4fccecdacdff7454e0d48a645e3e2	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+324ed5e94a317d2e9a354e5dfd73d67224cb5330	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), @DISEASE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+850c99cf202e62dcadc46c17edb7353199759e23	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+8eb56da15643db7a3ff78119606722b6049c47c1	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+dbfda3467a34cb3ae6420ddc73267edf485b2077	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @DISEASE$, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+9ce499ba1e8d056ed8cca647f5edd6a60e0995be	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+c8137fd4b5883f15f0dd40085673af1c919ceab3	@DISEASE$ (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+0b6d77baba067d72bfd2c90760021df7aa721973	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability.	has_symptom
+fadcf5f3cd40c241ea8d61e9527f672e05128eee	Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @DISEASE$, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+68f33d1a1de85c11602ae68908d271905918a90b	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+ccb63eccf8b0993a3654bb4f6d9bd491f806da66	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+aa2581fc3e88811292134efa5ed7e4d742d5bd19	Acrocallosal syndrome is a multiple @DISEASE$ disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+11e7507d6faa54b6df3d402d07aca6fe56563e02	Acrocallosal syndrome is a multiple @DISEASE$ disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+32860e4ba3f176da4870727bd11c219fef38bddb	Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @DISEASE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+d658752fa63df4e8d47c8d646d11bc3f9e131fe3	@DISEASE$ is characterized by postaxial polydactyly, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and severe developmental delay.	has_symptom
+58a4dae977a2664c524416b1a27e258a37ea6aa9	Acrocallosal syndrome is characterized by postaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, and severe developmental delay.	false
+9eb7c0bb8e9131b5f3e388b4be5b387f12be3a29	@DISEASE$ is characterized by postaxial polydactyly, macrocephaly, @PHENOTYPICFEATURE$, and severe developmental delay.	false
+e51eed8c920c8aa9dcb002fa703d500ef75d75c5	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	has_symptom
+ea6b5141e0ad2e42e3c7b3b8c36d5c1a42667dfa	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	has_symptom
+446517aac9be26c6f026964bec950c520e1ae5a4	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+4c0d5126ce59b4ff83c0611140156d4e689525bb	We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @DISEASE$, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+91a56a30df4e66c206efe2a1e8f5505eaa322c8e	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+b297923390e21ecd9763b6939098e39dd636374d	We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @DISEASE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe @PHENOTYPICFEATURE$ and profound psychomotor delay.	false
+483a37159270adb74467dc91c717be6128310133	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe @PHENOTYPICFEATURE$ and profound psychomotor delay.	false
+c0cfbe897b8b08d4391f8c9e3086f8ca349d8c94	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe @PHENOTYPICFEATURE$ and profound psychomotor delay.	false
+4809e58dfdf6aea95473215894f7211e889264cb	While @DISEASE$ is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	has_symptom
+518a7e78b92e288f445937575ac1f35a5fc80a10	While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and @PHENOTYPICFEATURE$, @DISEASE$ dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+18ddf7634fd07ec87e2070b330b3839b036e826a	While ACLS is characterized by @DISEASE$, prominent forehead, depressed nasal bridge, and @PHENOTYPICFEATURE$, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+ae0e30ff397e5f0f9fe73aad276d010dd52143e4	While @DISEASE$ is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and @PHENOTYPICFEATURE$, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+0117aa2ae74629612d4415153087b6ae2afd573a	The acrocallosal syndrome (@DISEASE$) is a probable autosomal recessive condition of @PHENOTYPICFEATURE$, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation.	has_symptom
+c49252b03a81aa0809f4fe11711add25cd100be3	The @DISEASE$ (ACS) is a probable autosomal recessive condition of @PHENOTYPICFEATURE$, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation.	has_symptom
+2c1f8734609c360a6b26b71188e53ee71b59a492	The acrocallosal syndrome (@DISEASE$) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+129946735ef3a616bd3f41266b609f1e882b2317	The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of @DISEASE$, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+c9cdd5f702aab3d1727ac25b8e0034c0ba49071e	The @DISEASE$ (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+f4b3df8b511365998647c75ddbeade872de31a3a	@DISEASE$ should be suspected also in infants presenting with delayed eye opening, @PHENOTYPICFEATURE$, hypothermia, or hypotension.	has_symptom
+f9cb8f13cd86ffcd7e1efa93c5c9e708b0d2b267	@DISEASE$ is a rare autosomal recessive disorder that causes @PHENOTYPICFEATURE$, unusual facial features and skeletal abnormalities.	has_symptom
+a049b52718b4cb06c2ec74c0f229e28cc41dd87f	@DISEASE$ is a rare autosomal recessive disorder that causes short stature, unusual facial features and @PHENOTYPICFEATURE$.	false
+90a5c827a97094aece2b613ffbc2c55cbb9ab30e	3-M syndrome is a rare autosomal recessive disorder that causes @DISEASE$, unusual facial features and @PHENOTYPICFEATURE$.	false
+e28953124486864b86a6c5074d6eb9b28c574c64	Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary @PHENOTYPICFEATURE$ syndrome including @DISEASE$.	has_symptom
+5e4c14c9c09d0d166e0ccef85825da76ffd9ab01	The CCDC8 gene is mutated in @DISEASE$, a @PHENOTYPICFEATURE$ disorder with additional facial and skeletal abnormalities.	has_symptom
+e70378cd521a14977b147ba6e97525da01e8d25f	The CCDC8 gene is mutated in 3M syndrome, a @DISEASE$ disorder with additional facial and @PHENOTYPICFEATURE$.	false
+993c9462b88f583c359a0de2191ec45f3c9b9b37	The CCDC8 gene is mutated in @DISEASE$, a short-stature disorder with additional facial and @PHENOTYPICFEATURE$.	false
+dfa06dfc8c892720fc8ebe52657c571cb03793b4	@DISEASE$ and erosive vitreoretinopathy together constitute the phenotypic continuum of an autosomal dominant @PHENOTYPICFEATURE$, with clinical findings typically isolated to the eye.	has_symptom
+1c3571b7bada763ae40f54accef49b93cab6df88	@DISEASE$ (WS) is an autosomal dominant @PHENOTYPICFEATURE$ affecting various ocular features and is caused by mutations in the canonical splice sites of the VCAN gene, which encodes the large chondroitin sulfate proteoglycan, versican.	has_symptom
+3d996ac8cfc43c4adfe8ef5077989863a9ed75f5	@DISEASE$: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe @PHENOTYPICFEATURE$.	has_symptom
+a22fbb124fcf7d5cc767df53d5468dec2696eaec	Furthermore, @DISEASE$, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ keratitis and aortitis, has been associated with IBD and mainly with Crohn's disease.	has_symptom
+e9bd7ea67d9479b18a06f8eac29d1968cf22bc86	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, vertigo @PHENOTYPICFEATURE$ and aortitis, has been associated with @DISEASE$ and mainly with Crohn's disease.	false
+8b5eceed8c1cb6bcd780d83740426ef33770c2e0	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and aortitis, has been associated with IBD and mainly with @DISEASE$.	false
+0bbb77dad26dad70e3d45c76e6bdc48106262c07	Furthermore, @DISEASE$, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+1f839fa053a576e1797d921b8da885d14e6fd252	Furthermore, @DISEASE$, a chronic disease characterized by deafness, vertigo @PHENOTYPICFEATURE$ and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+f47d020cbabb73af1047b8cb85d1d51c267ef11a	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and @DISEASE$, has been associated with IBD and mainly with Crohn's disease.	false
+a9420626eaf3decef6e2055a243d44611d5816ca	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, vertigo @PHENOTYPICFEATURE$ and aortitis, has been associated with IBD and mainly with @DISEASE$.	false
+247e2f189bd5b58ab3a43e9f07d7ca4b3e7e3a2a	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, vertigo @PHENOTYPICFEATURE$ and @DISEASE$, has been associated with IBD and mainly with Crohn's disease.	false
+9ef696128cd8f23f97e2f9a57ff9950594a24018	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, @DISEASE$ keratitis and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+ba2f82cd3c66229ddaa9a249b3702f0d2d29eb57	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, @DISEASE$ @PHENOTYPICFEATURE$ and aortitis, has been associated with IBD and mainly with Crohn's disease.	false
+50f635dee156f1d38145bf2a8a80b22c3c7938f5	Furthermore, Cogan's syndrome, a chronic disease characterized by @PHENOTYPICFEATURE$, vertigo keratitis and aortitis, has been associated with @DISEASE$ and mainly with Crohn's disease.	false
+c0658a0431d8b9c17a3096f8e03d19a3aaab75cd	@DISEASE$ (CS) is defined by the combination of hearing loss, @PHENOTYPICFEATURE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel vasculitis.	has_symptom
+c63e2c510f8fa2fb9e76f5df39676fbe22e19ff0	Cogan's syndrome (CS) is defined by the combination of @DISEASE$, vertigo, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel vasculitis.	false
+796adc15181e225c8b2ab5d1fde05cae3a460079	Cogan's syndrome (CS) is defined by the combination of @DISEASE$, vertigo, and ocular inflammation of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	false
+51be5f3456f516cae7e1b3dbff7b3e8c727dfa00	Cogan's syndrome (CS) is defined by the combination of hearing loss, @DISEASE$, and ocular inflammation of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	false
+ad223d116175f867cb15d8200eabc30d94c66720	@DISEASE$ (CS) is defined by the combination of hearing loss, vertigo, and ocular inflammation of uncertain cause, and can be associated with variable vessel @PHENOTYPICFEATURE$.	false
+f0c849fb68f3274eb464aee84cb354d0e3a6b12d	Cogan's syndrome (CS) is defined by the combination of hearing loss, @DISEASE$, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel vasculitis.	false
+cf5daef655a42ab38f7e4ccffb9c5a8b84bb9498	@DISEASE$ (CS) is defined by the combination of hearing loss, vertigo, and @PHENOTYPICFEATURE$ of uncertain cause, and can be associated with variable vessel vasculitis.	false
+1ec62511e3b23a6bcb263e7c062de8b5819c832e	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial keratitis and attacks of @PHENOTYPICFEATURE$, tinnitus, and hearing loss.	has_symptom
+f62ba1f94aa72542dc5a3cb88657064f04241f10	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial keratitis and attacks of vertigo, @PHENOTYPICFEATURE$, and hearing loss.	false
+6d400fdba2961fad13552602f8b95286b0b4d6ca	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial keratitis and attacks of @DISEASE$, @PHENOTYPICFEATURE$, and hearing loss.	false
+49082899830f2fea84e74244db9def7730b76e31	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of @DISEASE$, tinnitus, and hearing loss.	false
+fc07f2fd4afd8768f6e2ee7a0ed40e848307307e	As first defined in 1945, @DISEASE$ includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of vertigo, tinnitus, and hearing loss.	false
+441c1cb015d387bc6fed9fe99512b2a72c48a87a	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial @PHENOTYPICFEATURE$ and attacks of vertigo, tinnitus, and @DISEASE$.	false
+23c76b04699e458050ddfba8a3e1ec1cab3e0d06	As first defined in 1945, Cogan syndrome includes nonsyphilitic interstitial keratitis and attacks of vertigo, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8f5fd5f239c010b1d3a15d305d43aa7012ff1398	The association of sensorineural hearing loss and @PHENOTYPICFEATURE$ with inflammatory eye disease, usually interstitial keratitis, has been called @DISEASE$.	has_symptom
+ec0e3ae8b884086dae0b00d0a78c2ac401696222	The association of sensorineural hearing loss and vertigo with inflammatory @DISEASE$, usually interstitial @PHENOTYPICFEATURE$, has been called Cogan's syndrome.	false
+b3f42be2c868ae3b4a3ef765ccbf01ddaa8c8be7	The association of @PHENOTYPICFEATURE$ and vertigo with inflammatory @DISEASE$, usually interstitial keratitis, has been called Cogan's syndrome.	false
+beb891acd516ec1db88a86c38f155cb9125ef263	The association of @PHENOTYPICFEATURE$ and @DISEASE$ with inflammatory eye disease, usually interstitial keratitis, has been called Cogan's syndrome.	false
+4039ea14ec8f33e793c6f9952f7501c5572a2d60	The association of sensorineural hearing loss and vertigo with inflammatory eye disease, usually interstitial @PHENOTYPICFEATURE$, has been called @DISEASE$.	false
+9ea107eb206514c5109f986a079e14f5ca9a309e	The association of sensorineural hearing loss and @DISEASE$ with inflammatory eye disease, usually interstitial @PHENOTYPICFEATURE$, has been called Cogan's syndrome.	false
+7d361b429db1ba039418a3cc946d22e75b307fe7	The association of @PHENOTYPICFEATURE$ and vertigo with inflammatory eye disease, usually interstitial keratitis, has been called @DISEASE$.	false
+3515d8fbbb0867903dd7dca2b379d4ac727436d3	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, tinnitus, @PHENOTYPICFEATURE$ and hearing loss).	has_symptom
+69407ceede41453a0fd4d9d184420edab5a73dcb	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, @PHENOTYPICFEATURE$, @DISEASE$ and hearing loss).	false
+fabe638160dda68d3a3e9e9b3bf1a9b72abf807a	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, @PHENOTYPICFEATURE$, vertigo and @DISEASE$).	false
+4797be6245edb59efeae9de3a9f127ed24cac8b9	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, tinnitus, @DISEASE$ and hearing loss).	false
+33d856b72432e2e1b747a9110c3f8a1506940afe	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, tinnitus, vertigo and hearing loss).	false
+8fcb98ea53310ecb2b4e89c25541158391457ce1	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, vomiting, @PHENOTYPICFEATURE$, vertigo and hearing loss).	false
+213258b78411d7d16ab09da43c17fd307335c62d	Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, tinnitus, vertigo and @DISEASE$).	false
+3a6ef356aec4c9e130898b4e7a7824f1fd15dfee	@DISEASE$ is characterized by a non-luetic interstitial keratitis associated with @PHENOTYPICFEATURE$, tinnitus and profound deafness.	has_symptom
+4af3e5e58945323a32a336ea90c1cb62897f41b0	@DISEASE$ is characterized by a non-luetic interstitial keratitis associated with vertigo, tinnitus and profound @PHENOTYPICFEATURE$.	false
+9417854ff5ff4c563dde71262af777bccf588acc	Cogan's syndrome is characterized by a non-luetic interstitial keratitis associated with @DISEASE$, tinnitus and profound @PHENOTYPICFEATURE$.	false
+2f8091fbc0a10731477ac6fe46eb4d179700c5a1	Cogan's syndrome is characterized by a non-luetic interstitial keratitis associated with @DISEASE$, @PHENOTYPICFEATURE$ and profound deafness.	false
+e41b5b108b2fb5e3160c0257b69875d14de4b5d3	@DISEASE$ is characterized by a non-luetic interstitial keratitis associated with vertigo, @PHENOTYPICFEATURE$ and profound deafness.	false
+b54d604dcfd291505c0f808890504997bd4ed808	@DISEASE$ (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of @PHENOTYPICFEATURE$, tinnitus, and hearing loss.	has_symptom
+b8852c9ebe44d7358983b92609fdb54252148709	Cogan's syndrome (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of vertigo, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7492212bd8ba87f5322dd3c2f1966febe8c8e214	@DISEASE$ (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of vertigo, @PHENOTYPICFEATURE$, and hearing loss.	false
+9dd92a51dfcc64852f01eda1ad5a748974a8f634	Cogan's syndrome (CS) is the association of acute nonsyphilitic interstitial keratitis and acute episodes of @DISEASE$, @PHENOTYPICFEATURE$, and hearing loss.	false
+f1db12897114ae3cac27e11d22db9a2d13f6e361	@DISEASE$ is a rare disorder that is characterized by a rapid onset of bilateral severe sensorineural hearing loss associated with @PHENOTYPICFEATURE$ and tinnitus, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	has_symptom
+96913be3a5cc68d2b2bb0e07eb7f0f19f3e6a3b4	Cogan's syndrome is a rare disorder that is characterized by a rapid onset of bilateral severe sensorineural hearing loss associated with @DISEASE$ and @PHENOTYPICFEATURE$, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	false
+8fbbfb74e38c9ca9ae4746a47f662e9fdc91b102	Cogan's syndrome is a rare disorder that is characterized by a rapid onset of bilateral severe @DISEASE$ associated with vertigo and @PHENOTYPICFEATURE$, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	false
+4e6a468f35a01cf27a8d65da3ed1a3207709e1c3	@DISEASE$ is a rare disorder that is characterized by a rapid onset of bilateral severe sensorineural hearing loss associated with vertigo and @PHENOTYPICFEATURE$, ocular involvement (most commonly an interstitial keratitis) and variable systemic symptoms.	false
+48e369469b59bd75a7f464abaea4357b8ca91d03	A 55-year-old woman had bilateral sensorineural hearing loss (SNHL), @PHENOTYPICFEATURE$, uveitis, and aortitis associated with @DISEASE$ (CS).	has_symptom
+7cd66669dd5c792ed3a1dcf9cd9511d255a269e2	A remarkable blood eosinophilia of 9.80 E9/l (42%) together with @PHENOTYPICFEATURE$, sinusitis, wide-spread bilateral nodular pulmonary infiltrates that did not respond to wide-spectrum antimicrobial treatment, positive anti-neutrophilic cytoplasmic antibodies, a high myeloperoxidase antibody level and slightly positive anti-proteinase 3 antibodies suggested the diagnosis of @DISEASE$.	has_symptom
+081ad568abbb9d208d49568aeb3ae27ba5e1ecec	A 73-year-old woman with a three-year history of allergic rhinitis and bronchial asthma was found to have @DISEASE$ combined with @PHENOTYPICFEATURE$, eosinophilia, mononeuritis multiplex, and acute coronary syndrome.	has_symptom
+77dfa86bce70241ec3b3b4261ad4137525a76c64	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, @PHENOTYPICFEATURE$, weight loss, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	has_symptom
+d41017f3d75c5f18a24afa2e8604f489e04acf69	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, @PHENOTYPICFEATURE$, abdominal pain, skin lesions, @DISEASE$ and pulmonary infiltrates with eosinophilia.	false
+a929346454b9b6491513285262e7502a029435a9	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, @DISEASE$, @PHENOTYPICFEATURE$, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+b0bcd26e48d8167546dbbca297a9b3f2fab0100e	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, @DISEASE$, weight loss, @PHENOTYPICFEATURE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+e960bc8cd15833103505c8e35d4f7c4d35c9bc03	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, fever, weight loss, @PHENOTYPICFEATURE$, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+4fdc553cc8d2f36252e6a0b6920fb87cb80964c8	We describe a 7-year-old boy with @DISEASE$ who presented with a 3-month history of cough, wheeze, fever, @PHENOTYPICFEATURE$, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia.	false
+1e953ebba18ac67018c3d877d8aadf01139afbf7	We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, weight loss, @PHENOTYPICFEATURE$, skin lesions, @DISEASE$ and pulmonary infiltrates with eosinophilia.	false
+0b351b7f2e2c6530dcce6a4b83bac73df3ad6e5d	We report a case of @DISEASE$ in a 50-year-old Caucasian woman who presented with chest pain, dyspnea at rest, @PHENOTYPICFEATURE$, and periorbital swelling.	has_symptom
+a9e593ce1b37a77717bc6c8a8c8a218555f50fb0	Since a challenge test using an intravenous infusion of methylprednisolone sodium succinate worsened the lower limb pain, @PHENOTYPICFEATURE$ and peripheral blood eosinophilia, a drug allergy was diagnosed together with @DISEASE$.	has_symptom
+8bb15aff6a33fd3c62081303a2ee770cdccdc471	Since a challenge test using an intravenous infusion of methylprednisolone sodium succinate worsened the lower limb pain, fever and peripheral blood @PHENOTYPICFEATURE$, a drug allergy was diagnosed together with @DISEASE$.	false
+9e9219dae410ce91906918efa8a7dad1f8f35ad2	Since a challenge test using an intravenous infusion of methylprednisolone sodium succinate worsened the lower limb pain, @DISEASE$ and peripheral blood @PHENOTYPICFEATURE$, a drug allergy was diagnosed together with Churg-Strauss syndrome.	false
+50b4932dce066bc74872b0251c777aa272bb9049	@DISEASE$ has three main criterions: 1) severe asthma with @PHENOTYPICFEATURE$ attacks, 2) extra- and intravascular granulomatous proliferations of epitheloid and giant cells, 3) inflammatory infiltrates rich in eosinophilic leukocytes.	has_symptom
+c155a850bb9a84d401a9a034eddb47f4aeddc6ad	We report a single case of primary (isolated) nodal @DISEASE$ occurring in an 11-year-old boy with asthma, @PHENOTYPICFEATURE$, night sweats, and cervical adenopathy.	has_symptom
+13d81453531aca0ed26b742313b5a6e1947486b7	@DISEASE$ (CADASIL) is an inherited cerebral microangiopathy presenting with variable features, including migraine, psychiatric disorders, stroke, and cognitive decline and variable @PHENOTYPICFEATURE$.	has_symptom
+be36f480f518bbb82bd07499805f6f943cd48f21	However, in the most @DISEASE$ patients this treatment does not prevent development of late-onset complications; @PHENOTYPICFEATURE$, ovarian failure and neurologic disturbances.	has_symptom
+dd6d42e353d1969eabea2ec27fe513bbea5e3d58	The results of routine screening for phenylketonuria and @DISEASE$ in @PHENOTYPICFEATURE$ children.	has_symptom
+61272308346baf8efcef16378768c8261ddda0cd	Newborn screening for classical @DISEASE$ does not change the long-term complications of the disease such as speech disorders, @PHENOTYPICFEATURE$, ataxia and in females hypergonadotropic hypogonadism.	has_symptom
+5df15ade19c3e18195bc142dc387a1bc74e8ab03	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, mental retardation, @PHENOTYPICFEATURE$ and in females @DISEASE$.	false
+f0c4efba76b6f4b7ee2628ba81d1bc06f4fc63a5	Newborn screening for classical @DISEASE$ does not change the long-term complications of the disease such as speech disorders, mental retardation, @PHENOTYPICFEATURE$ and in females hypergonadotropic hypogonadism.	false
+11cbb629e1fc00ad2605fa5b37d48e40be2e08a4	Newborn screening for classical @DISEASE$ does not change the long-term complications of the disease such as @PHENOTYPICFEATURE$, mental retardation, ataxia and in females hypergonadotropic hypogonadism.	false
+162980b146f01a8f46cc5f161f4746dbf463cda6	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as @PHENOTYPICFEATURE$, @DISEASE$, ataxia and in females hypergonadotropic hypogonadism.	false
+4259a130b225b18fe8e3b63de746c2501e5cf8af	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, @DISEASE$, @PHENOTYPICFEATURE$ and in females hypergonadotropic hypogonadism.	false
+3fe663b9f5f0da0f635df9471a7cd0f00add877a	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as @PHENOTYPICFEATURE$, mental retardation, ataxia and in females @DISEASE$.	false
+f20a2145a89991f50963bca31596197708d7c628	This may indicate that verbal dyspraxia is just one symptom among others in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6659a49d40001ccf712e29217e78913f1c0986c9	In @DISEASE$, prevention of @PHENOTYPICFEATURE$ depends on early recognition of the disorder and institution of dietary restriction of galactose.	has_symptom
+65e7f02b0ce4b15f783c0f759a9ec8c649a1e2ab	[Screening for congenital hypothyroidism, phenylketonuria, @DISEASE$ and biotinidase deficiency in a sample of @PHENOTYPICFEATURE$ patients in the city of Havana].	has_symptom
+51102954455efb20f2cc65a70c47f9e19dad9544	Further, @DISEASE$ should be included in the differential diagnosis of tremor and ataxia in the setting of @PHENOTYPICFEATURE$.	has_symptom
+34f9857da9f4a3ad76a0f46f8bb95d6292266c06	Further, @DISEASE$ should be included in the differential diagnosis of tremor and @PHENOTYPICFEATURE$ in the setting of mental retardation.	false
+060017331cd4b77d8d140c5967a41ac9f13379ea	Further, galactosemia should be included in the differential diagnosis of tremor and @PHENOTYPICFEATURE$ in the setting of @DISEASE$.	false
+e8534e18810cf9e9a4b8a72d55f76ba38dc4e012	The results show that even medically well treated children and young adults with @DISEASE$ are at risk to develop disabilities, including @PHENOTYPICFEATURE$, speech and language disabilities.	has_symptom
+f48e63d24c17cee070e805f8be306770d039ecbf	We describe the molecular characterization of two mutations responsible for @DISEASE$, an inherited disorder of galatose metabolism that causes jaundice, cataracts, and @PHENOTYPICFEATURE$ in humans.	has_symptom
+70bcfe87f3fdbce0f50fe9ab5dbb74468a568c89	We describe the molecular characterization of two mutations responsible for @DISEASE$, an inherited disorder of galatose metabolism that causes jaundice, @PHENOTYPICFEATURE$, and mental retardation in humans.	false
+8e24246c3bc1b4309141c14216c2e730243da2dd	We describe the molecular characterization of two mutations responsible for galactosemia, an inherited disorder of galatose metabolism that causes jaundice, @PHENOTYPICFEATURE$, and @DISEASE$ in humans.	false
+be073665c53f04d4927caf533760709550933998	Metabolic studies of cases of @PHENOTYPICFEATURE$ in AIIMS, Delhi and KEM Hospital, Mumbai, demonstrated that common disorders were those of mucopolysaccharides, lysosomes, Wilson disease, glycogen storage disease and @DISEASE$.	has_symptom
+6c1288f89462bda6390668e0b7714552af4be5c8	@DISEASE$ (ATTR-wt) is characterized by the accumulation of amyloid in the heart, leading to fatal heart failure and @PHENOTYPICFEATURE$.	has_symptom
+5eba8a1a3623c42648d102fb9eea872aa24e3643	Wild-type ATTR amyloidosis (ATTR-wt) is characterized by the accumulation of amyloid in the heart, leading to fatal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4bd3ca4c4f078f86e76fb8616bd711d2156e0fa7	@DISEASE$ (ATTR-wt) is characterized by the accumulation of amyloid in the heart, leading to fatal @PHENOTYPICFEATURE$ and arrhythmia.	false
+922f53f397323484c1eca9f89052570f4cbd2d2d	Some patients have severe permanent neutropenia and @PHENOTYPICFEATURE$ early in life, while others have mild intermittent neutropenia.Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in @DISEASE$ (associated with pancreatic insufficiency) and glycogen storage disease type Ib (associated with a glycogen storage syndrome).	has_symptom
+ff2ceb9e1b638c9f53b656be85f314c4e49f3393	We describe a patient with @DISEASE$ caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, hypercalcemia, @PHENOTYPICFEATURE$, and hypertension.	has_symptom
+ee5dd44cfb51a4e2c5ea8d7af6ba96a86f78d960	We describe a patient with @DISEASE$ caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, @PHENOTYPICFEATURE$, renal failure, and hypertension.	false
+6f27a5abd7fd4fce310c1ef7131d843076a25fd1	We describe a patient with XLH caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant @PHENOTYPICFEATURE$, hypercalcemia, @DISEASE$, and hypertension.	false
+9597abce3fa4f9f6a6d45adc7ef7daec9e1e8fd7	We describe a patient with @DISEASE$ caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant @PHENOTYPICFEATURE$, hypercalcemia, renal failure, and hypertension.	false
+cb202474e061f574f8e12242ee8e682c0e8968e2	We describe a patient with XLH caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, @PHENOTYPICFEATURE$, @DISEASE$, and hypertension.	false
+2d47187c110f0f773d0be714a92a13af144fe2c7	@DISEASE$ (XLHED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and hypodontia.	has_symptom
+7d1868deb26f61d4974a988af28fd3c7fe4d2660	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ec2d00efb18f8e6d32427266f84a8a6a80eddef0	@DISEASE$ (XLHED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and hypodontia.	false
+72c9c5e418d054a4fa358d5008c17fc9688c1d22	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe @DISEASE$, @PHENOTYPICFEATURE$, and hypodontia.	false
+beb3d6b53913173a73f342012c6294d8079d2d55	@DISEASE$ (XLHED), which is characterized by hypodontia, hypotrichosis, and @PHENOTYPICFEATURE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	has_symptom
+8fe6983f5ef4719dc2d2b51bb3f786d1a10b1f05	@DISEASE$ (XLHED), which is characterized by @PHENOTYPICFEATURE$, hypotrichosis, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+f0432b98e657f4d7b2560f281bc39a3d2c3d896a	X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+65ed99408850c98f3c6397aa260e1691eff1b545	@DISEASE$ (XLHED), which is characterized by hypodontia, @PHENOTYPICFEATURE$, and hypohidrosis, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+d0ffdde407a786846c81849cb9377aa3f250791e	X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by hypodontia, @PHENOTYPICFEATURE$, and @DISEASE$, is caused by mutations in ED1, the gene encoding ectodysplasin-A (EDA).	false
+1fbd9252645843d0f96c6e841426cbf2f735da58	Hypodontia, @PHENOTYPICFEATURE$, sparse hair and characteristic faces are the main characters of @DISEASE$ (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency.	has_symptom
+9537d7ac91c1a117c86fe5c0d5354cbf254905b2	@PHENOTYPICFEATURE$, hypohidrosis, sparse hair and characteristic faces are the main characters of @DISEASE$ (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency.	false
+3c51e0d8292aab417d1ac615593c5e21c99fa8bb	@PHENOTYPICFEATURE$, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (@DISEASE$) deficiency.	false
+e84781eca2c8dc525c8f557f6903125de423b899	@PHENOTYPICFEATURE$, @DISEASE$, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (EDA) deficiency.	false
+a21e9ea7f6a3a21182c9483e10039be323c46dfa	@DISEASE$ (XLHED) is characterised by @PHENOTYPICFEATURE$, sparse hair, and teeth abnormalities.	has_symptom
+c4b5cb98e2f1460d73ac490edddf9d6b759fd3a8	@DISEASE$ (XLHED) is characterized by hypodontia, @PHENOTYPICFEATURE$, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene.	has_symptom
+add925a3b6cf9a65200751a220502569d7522e72	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene.	false
+9cc2a1287a490ec3460eeb86d986a6ccedf373fe	@DISEASE$ (XLHED) is characterized by @PHENOTYPICFEATURE$, hypohidrosis, sparse hair and characteristic facial features and is caused by mutation in the ectodysplasin A (EDA) gene.	false
+c6e9f222180f6d10d88edfb9100deca03d94eae2	Six patients, each with an extensive hemangioendothelioma, Klippel-Tr?naunay syndrome, @DISEASE$, or unilateral body @PHENOTYPICFEATURE$, showed absence or interruption of axial channels.	has_symptom
+ee2e7fc54d6eaf6caa1c91d62f9c4b4f9b3a1441	However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right @PHENOTYPICFEATURE$, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal @DISEASE$.	has_symptom
+3f453b95ee8419fc87ccbe325bc62c08503aff4d	However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third @PHENOTYPICFEATURE$ and a larger first right toe since childhood, and early-onset bilateral @DISEASE$, suggested a minimal Proteus syndrome.	false
+2c737d1c278c917cfc4159b1ee19dd19f59c1507	However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third @PHENOTYPICFEATURE$ and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal @DISEASE$.	false
+93643630dd4fe331725b848c98fcbbb4311ad868	However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right @DISEASE$, second and third @PHENOTYPICFEATURE$ and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome.	false
+df705ce995d15bbac5f0e970490d1805890ca9ba	Late-onset @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b5727bce6d113586aa54ecf2176d6c0025af512d	Additional common features are caf?-au-lait spots (@DISEASE$), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, @PHENOTYPICFEATURE$ and learning difficulties.	has_symptom
+702b1c8c58393980ab575e8f8fc24189835eed6a	@DISEASE$ with @PHENOTYPICFEATURE$ and labyrinthine anomaly.	has_symptom
+5805b21fa27438fe1d441f892fe5755733467354	In certain geographical areas a significant number of patients may be affected by an autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+7d24ad716563dcf841042844f6e82b6e7224bde3	Mutations in a putative low-density lipoprotein (LDL) receptor adaptor protein called ARH have been recently described in patients with autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+3aeea93b96a82444f6861ecb4fe6e80df47eb9a2	Premature senescence in cells from patients with autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$): evidence for a role for ARH in mitosis.	has_symptom
+5709628fcd1f41bd63dab5cd361a7e7385a00bdf	We report a case of autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$) who was treated with bilio-pancreatic diversion (BPD) with satisfying results.:	has_symptom
+34b90aab2a330fdb51cb0c8d7cfc9522f6bd1bcb	Clinical and biochemical characterisation of patients with autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+0c81d3cad5f1d5f87989cc87395fa693ed55aaa9	For autosomal recessive @PHENOTYPICFEATURE$, mutations within the so-called @DISEASE$ gene encoding a cellular adaptor protein required for LDL transport have been identified.	has_symptom
+73fec74f47ab57e5520ce127d0c7f0b5022ebac3	Purified PCSK9 had no effect on cell-surface LDLRs in hepatocytes lacking autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$), an adaptor protein required for endocytosis of the receptor.	has_symptom
+f8843eaca4a0b2fc2c3bf3cbdf2654e8c038fa8d	A phenocopy of FH, autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$), is due to mutations in an adaptor protein involved in LDLR internalization.	has_symptom
+188569c901843e47ee96cb7bd2b09d40a1101e87	Human mutation analysis revealed that autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$), an LDLR endocytic adaptor, perturbs LDLR function and thus impacts serum cholesterol levels.	has_symptom
+61c8af0734292513496bdc507c86a89328b6764f	Inactivating mutations in autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$), an endocytic adaptor, blocked PCSK9-mediated LDLR degradation in lymphocytes but not in fibroblasts.	has_symptom
+755cd2ad6c7226a99c02f22a4aaf47f08bbe1768	Infants with @DISEASE$ develop a leukoencephalopathy with @PHENOTYPICFEATURE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	has_symptom
+bd70816bff49b375c3b56ebc6d8b78f02a064230	Infants with Alexander disease develop a leukoencephalopathy with @DISEASE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+8254a546ee6ae08f3d2ee50a7ca9907b4efbbe37	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience @PHENOTYPICFEATURE$, bulbar signs and spasticity, and a more slowly progressive course.	false
+645108d752b8ac99b554d8f1c2d7daf7877e50c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+d95671ce838ceaa28740aa39cf2acc0332dbb63a	Infants with Alexander disease develop a leukoencephalopathy with @DISEASE$, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	false
+4cb1b3a8dcd9e79c60f7b6098cadecdb4d7d46c8	Infants with @DISEASE$ develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and @PHENOTYPICFEATURE$, and a more slowly progressive course.	false
+471403a16eefb62996b7e220534f087ddc1b74ef	Infants with Alexander disease develop a leukoencephalopathy with @DISEASE$, @PHENOTYPICFEATURE$ and psychomotor retardation, leading to death usually within the first decade; patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course.	false
+b77ab1095019c5c2527654f83195322e4b91adb2	[An atypical presentation of Infantile @DISEASE$ lacking @PHENOTYPICFEATURE$].	has_symptom
+256cfaf5290f2bc21ce00d30ae210830ebbdaaba	@DISEASE$ is a leukoencephalopathy that usually presents during infancy with developmental delay, @PHENOTYPICFEATURE$ and seizures.	has_symptom
+6eb4dd59d90302d6001469658e7c15ae092dc60b	@DISEASE$ is a leukoencephalopathy that usually presents during infancy with developmental delay, macrocephaly and @PHENOTYPICFEATURE$.	false
+1c4a8a9104f0e611433b5adb0c5c4fffddd05f1d	Alexander disease is a leukoencephalopathy that usually presents during infancy with developmental delay, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e99fc8f0e3e60df0cddc1b8442a7a218a4223565	Infantile @DISEASE$ (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with @PHENOTYPICFEATURE$, seizures, and retarded psychomotor development.	has_symptom
+0cd887b46eceb2f1dada9543c1056e99d51884f0	Infantile Alexander disease (AD) is a @DISEASE$ characterized by its early onset within 2 years of life and clinically presents with macrocephaly, @PHENOTYPICFEATURE$, and retarded psychomotor development.	false
+d108f317a18219da9b25a7b82b519d89e2502b0f	Infantile Alexander disease (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with @DISEASE$, @PHENOTYPICFEATURE$, and retarded psychomotor development.	false
+19fef42fab6245486e8bfa59ebc08bcf61d71ff7	Infantile @DISEASE$ (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with macrocephaly, @PHENOTYPICFEATURE$, and retarded psychomotor development.	false
+7000fcefc52cc19066a17d77753077e1a20bcce7	@DISEASE$ should be considered in the differential diagnosis of infantile leukoencephalopathy, even when no @PHENOTYPICFEATURE$ is present.	has_symptom
+029264b80b00638db81bdebc9f4f60d463897f1a	@DISEASE$ is most commonly associated with @PHENOTYPICFEATURE$ and, on MRI, a leukoencephalopathy with frontal preponderance.	has_symptom
+a6827b37b826504a600e745056be1bce3b3a49b4	When he was 7 years old, a pediatrician had diagnosed @DISEASE$ (hypotonia, @PHENOTYPICFEATURE$, and progressive low-density white matter predominantly in the frontal region on computed tomography examination).	has_symptom
+33333d10aa3a8da8bc6308a7d90d2cf2741f1313	@DISEASE$ is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and progressive demyelination with frontal lobe preponderance.	has_symptom
+78399422faa194ea66b50fe469429d0422854383	@DISEASE$ is an autosomal dominant leukoencephalopathy characterized by developmental delay, @PHENOTYPICFEATURE$, and characteristic neuroimaging abnormalities predominantly involving frontal lobes.	has_symptom
+d43f0fed957ea4160e3ab81b0207d1df7ddf81e1	In a model of @DISEASE$, mice that lack the alpha3 chain of collagen IV (Col4alpha3(-/-)) develop progressive glomerular damage leading to @PHENOTYPICFEATURE$.	has_symptom
+03847f46992e56f7954b48113d584a39d3924fd4	The peripheral changes occurred in both males and females with X-linked and @DISEASE$, and were more common when @PHENOTYPICFEATURE$, hearing loss, lenticonus and the central changes were present, but were also noted in 3 X-linked carriers with normal renal function.	has_symptom
+2a259f20ef96e10a8129c100f7d3988637ca70a9	These findings confirm that, similar to human @DISEASE$, female and male Col4a3KO mice develop @PHENOTYPICFEATURE$ at the same age and with similar severity.	has_symptom
+56633f2d391ece1260a08385f32cf5c32c53a9bd	@DISEASE$ is suspected in consanguineous families and when female patients develop @PHENOTYPICFEATURE$.	has_symptom
+63791f5ab33e36aeffb2a2232def472ec8310c29	Six of the seven (86%) individuals with @DISEASE$ who had these mutations in the compound heterozygous or homozygous forms developed @PHENOTYPICFEATURE$, as well as hearing loss and ocular abnormalities.	has_symptom
+1d6b05757a0cdcec572e988083a35855e612958c	Col4a3(-/-) mice, a model for @DISEASE$, progress to @PHENOTYPICFEATURE$ significantly slower on the C57BL/6 than on the 129X1/Sv background.	has_symptom
+cdb58937a5b5cd1abfc0689c0d5c9408c474d0a6	@DISEASE$ (MANDP) is an uncommon chondrodysplasia characterized by early-onset metaphyseal dysplasia and @PHENOTYPICFEATURE$ that improves with age.	has_symptom
+cfb0ad4842dae6b4e93de7dedb224265b96e3a33	Metaphyseal anadysplasia (MANDP) is an uncommon chondrodysplasia characterized by early-onset @PHENOTYPICFEATURE$ and @DISEASE$ that improves with age.	false
+8c147a648b4bd6c429795758aa425dbda505a1ed	@DISEASE$ (MANDP) is an uncommon chondrodysplasia characterized by early-onset @PHENOTYPICFEATURE$ and short stature that improves with age.	false
+5cffbefbc7582d693d7955a14abfc3c0e1042217	Metaphyseal anadysplasia (MANDP) is an uncommon @DISEASE$ characterized by early-onset @PHENOTYPICFEATURE$ and short stature that improves with age.	false
+aa91d1baa0ae871ec861fcf9bbb3fbe9227a1831	@DISEASE$ (SQTS) is an inherited cardiac channelopathy characterised by an abnormally short QT interval and increased risk for atrial and @PHENOTYPICFEATURE$.	has_symptom
+05ebec6332f6f3680ea8d63eab0267133ca5e8f7	To evaluate the clinical data of patients with hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVD/C), idiopathic @PHENOTYPICFEATURE$ (IDIO-VA) including Brugada syndrome, @DISEASE$, and long QT syndrome (LQT) enrolled in the Italian ICD Registry in the years 2001-6.	has_symptom
+c8dcfdf6e303e6ab21d839a987267d4357868c78	The @DISEASE$ (SQTS) is a new genetic disorder associated with atrial and @PHENOTYPICFEATURE$ and sudden death.	has_symptom
+c7f4e4c5ee3f030a7633907c88e38f4dc0516815	@DISEASE$ (SQTS) is an inherited disorder associated with abnormally abbreviated QT intervals and an increased incidence of atrial and @PHENOTYPICFEATURE$.	has_symptom
+0f8eff08bc1ea575d2274f4a28e9e44c7a004720	@DISEASE$ is a rare autosomal dominant channelopathy of structurally normal hearts characterized by atrial fibrillation, @PHENOTYPICFEATURE$, and sudden cardiac death.	has_symptom
+bea8bdc48631bce415a9aa588a2c537b401870c8	@DISEASE$ is a newly described cardiologic entity which associates a short OT interval (QT and QTc < or = 300 ms) on the surface ECG to a high risk of syncope or sudden death due to malignant @PHENOTYPICFEATURE$.	has_symptom
+6ce07de3ccf58a99366d19673c5f7110669f6ada	The @DISEASE$ (SQTS) is a cardiac repolarisation disorder characterised by abbreviated QT intervals on the electrocardiogram and by an increased risk of atrial and @PHENOTYPICFEATURE$ and sudden death.	has_symptom
+1ed55c84446424b26ab4a11237c5869056973b59	The idiopathic @DISEASE$ (SQTS) is a recently identified condition characterized by abbreviated QT intervals (typically 300 ms or less) and in affected families is associated with an increased incidence of atrial and @PHENOTYPICFEATURE$ and sudden cardiac death.	has_symptom
+e0308742452d6f27b07c05a15d648add6962cec3	@DISEASE$ (SQTS) is characterized by @PHENOTYPICFEATURE$ and sudden death.	has_symptom
+d8ac472873368d5b124ee72766707f264f6ec47b	@DISEASE$ (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral @PHENOTYPICFEATURE$, as well as behavioral and sleep/wake circadian rhythm disorders.	has_symptom
+b8ed33a496d1d717bf17fa544ba6bc8685bd3e7a	Smith-Magenis syndrome (SMS) is a @DISEASE$ characterized by the association of @PHENOTYPICFEATURE$, oral speech delay, as well as behavioral and sleep/wake circadian rhythm disorders.	false
+bab0750d994e585406a9a2241c6812268869cdfe	Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of @PHENOTYPICFEATURE$, oral @DISEASE$, as well as behavioral and sleep/wake circadian rhythm disorders.	false
+15483e0146550450689dbf030ce3ce7190b25e93	@DISEASE$ (SMS) is a genetic disorder characterized by the association of @PHENOTYPICFEATURE$, oral speech delay, as well as behavioral and sleep/wake circadian rhythm disorders.	false
+5df9b7597013e17b392f0462ddcdbe80d7bf72e3	@DISEASE$ is a complex neurodevelopmental disorder that includes intellectual deficiency, @PHENOTYPICFEATURE$, behavioral disturbance and typical sleep disorders.	has_symptom
+05947cacdf6503cba037be13c1355ebfba95f691	@DISEASE$ (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, @PHENOTYPICFEATURE$, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.	has_symptom
+266e10344715098da2b4dc6a24fc829dd35ba2c0	Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, @DISEASE$, decreased pain sensitivity, @PHENOTYPICFEATURE$, hyperactivity, mood instability, and self-injury.	false
+b38f10c30e781950fd0dbc806918ead6eb6d197d	Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including @PHENOTYPICFEATURE$, @DISEASE$, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.	false
+36d9741f95c7bcc86cfeee789a91a13ac3b57d04	@DISEASE$ (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased @PHENOTYPICFEATURE$ sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.	false
+674f76e8155f12c153e1cdb7a3f4b6e6307944e0	@DISEASE$ (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased pain sensitivity, @PHENOTYPICFEATURE$, hyperactivity, mood instability, and self-injury.	false
+c83ed14dc706113cc8e6ccecf4ca9c1b9a1c614f	@DISEASE$ (SMS) is a complex disorder characterized by numerous challenges, including @PHENOTYPICFEATURE$, speech delay, decreased pain sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.	false
+225452159c50468840e033d4da67499e90cd2c73	Smith-Magenis syndrome (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, @DISEASE$, decreased @PHENOTYPICFEATURE$ sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.	false
+a84e70922ab5b6d044e92ffe18c4ff8d71c277d6	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive @PHENOTYPICFEATURE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	has_symptom
+ce305f527f54a1ed1922992addbf8b66de9b4d2b	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @PHENOTYPICFEATURE$) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+f6ce358f8e2d7da0acc5c114203ee034de64002e	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, @PHENOTYPICFEATURE$) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive @DISEASE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+ccdb5679df763306d75f67671fb34e210d1ffe12	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and @PHENOTYPICFEATURE$ including hoarse voice, as well as marked early expressive @DISEASE$, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+9e50a8490463262b4b3033f16683cc26025c8d83	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and @PHENOTYPICFEATURE$ including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.	false
+386ae7a3a7ff6c3da488039a1c4e06d367f9c279	The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive @DISEASE$, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+510d3629154110e361fe7ff2e519d068290691bb	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+2245f8257612b3343352cac5e4685b23984e9120	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, @PHENOTYPICFEATURE$, hoarse deep voice and peripheral neuropathy.	has_symptom
+0a3deb70f1633d3d5576bf91bc695ac7740a5e9f	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, hoarse deep voice and @PHENOTYPICFEATURE$.	false
+dfe5808ae79812e2d06a5b2dd680b5935a1da653	The main clinical features of this syndrome which is also referred to as the @DISEASE$ consist of a broad flat midface with brachycephaly, broad nasal bridge, @PHENOTYPICFEATURE$, speech delay, hoarse deep voice and peripheral neuropathy.	false
+cdfbe1c6b4c366ba6751dc9008a7a8ee4b282bc3	The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, @DISEASE$, hoarse deep voice and @PHENOTYPICFEATURE$.	false
+844377b99332ee176e35343c0c77c3418de39c46	The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, @PHENOTYPICFEATURE$, @DISEASE$, hoarse deep voice and peripheral neuropathy.	false
+730adc4df331663a08df1c6422b0fa2f701c2fc8	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @PHENOTYPICFEATURE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	has_symptom
+c9a28fef6c4ba396efe89469065ec35e98fbcc05	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+0c6210b294c6f0aba952a32072f8ed793008526a	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+1983fdcf08dbe1ff5cd7ecbe69560b8d70542f9e	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, @DISEASE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+44ef2a7125a6f7b0ebab436188cf1ab7ead374a7	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+2aa0752e0dbc02e77ca3bc26576a024d1bcfa7a9	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+632e125063a4bc896aadc1701ac06787d791f9e5	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of @PHENOTYPICFEATURE$, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+8f7e994998a5c5948f8ff215ca031c92e6e15565	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @DISEASE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including @PHENOTYPICFEATURE$ and maladaptive repetitive and self-injurious behaviors.	false
+2d1ecd06e80f6da3261cdf4ba1fb4829f7644665	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+306c304248a7db81c96454e02e72e0c90b0fc6ff	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f5d5e5c997a7ebb8b37458a63145441350106831	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f1fe907a57f3a8ce3d810ee3f5ebc0e7eee5bc38	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @DISEASE$, cognitive deficits, signs of @PHENOTYPICFEATURE$, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+f7a8a59c1fb8a656a70ce07083e4c2480c5ff86e	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+76f4f66049285e6568b160d2876d5220f5ee1d9c	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, @PHENOTYPICFEATURE$, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, @DISEASE$, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+154193976fe8e55f3a56927abebdb49686c7b68c	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+872267da7989677eb19fd9b193a4ccf49353e992	Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+c7c26e9ab693882acb10e3da0542728b64424cc8	As @DISEASE$ is also associated with @PHENOTYPICFEATURE$, a gene involved in acquisition of language may lie within this interval.	has_symptom
+bbfa1d4dc46e5f595f02d38d61c50b8768e164a1	@DISEASE$ (HHRH) , an @PHENOTYPICFEATURE$ disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, hypercalciuria, rickets, and osteomalacia.	has_symptom
+ce1ddde3aa58d038b6cb81413b57b5a83d616990	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an autosomal recessive @DISEASE$ first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @PHENOTYPICFEATURE$, rickets, and osteomalacia.	false
+7ff8f3c574638c9cc94b5c80163ef7e963b6f25d	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an autosomal recessive disorder first identified in a large Bedouin tribe, is characterized by @DISEASE$ secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @PHENOTYPICFEATURE$, rickets, and osteomalacia.	false
+aa478aae311bee9fe97bd5cadc137f011a86b60a	@DISEASE$ (HHRH) , an autosomal recessive disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @PHENOTYPICFEATURE$, rickets, and osteomalacia.	false
+32649fe2da258307004942edb9f5b82685a34c93	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an @DISEASE$ disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @PHENOTYPICFEATURE$, rickets, and osteomalacia.	false
+a243405a24f5fa7eda1bb5f06019622cad701bb6	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) , an autosomal recessive disorder first identified in a large Bedouin tribe, is characterized by hypophosphatemia secondary to renal inorganic phosphate (Pi) wasting, resulting in increased serum1,25-dihydroxyvitamin D3 concentrations with associated intestinal calcium hyperabsorption, @PHENOTYPICFEATURE$, rickets, and @DISEASE$.	false
+71d7f25ec66f0e9195dbe1fd06ef03c88cf78ad9	@DISEASE$, Rieger anomaly, Rieger syndrome, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial @PHENOTYPICFEATURE$ iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition.	has_symptom
+255db54a1284236440a2eb1e94374afdafb2be1a	@DISEASE$ is a rare systemic infection caused by Tropheryma whippelii that usually manifests with joint pain, weight loss, diarrhoea and @PHENOTYPICFEATURE$.	has_symptom
+dbd3aa8ef37aaf18af2153392b8d60fcb485cb8e	@DISEASE$ is a rare systemic infection caused by Tropheryma whippelii that usually manifests with joint pain, @PHENOTYPICFEATURE$, diarrhoea and abdominal pain.	false
+30a1b2bc2d7c0591e2b4ec1453d1ac67a1927407	Whipple disease is a rare systemic infection caused by Tropheryma whippelii that usually manifests with joint pain, @PHENOTYPICFEATURE$, @DISEASE$ and abdominal pain.	false
+75946694b165ba0e7a4df1468ed67f4daa73f384	Whipple disease is a rare systemic infection caused by Tropheryma whippelii that usually manifests with joint pain, @PHENOTYPICFEATURE$, diarrhoea and @DISEASE$.	false
+8468fa8a23c682b4cbbf81581e40baed26c8ed2a	Whipple disease is a rare systemic @DISEASE$ caused by Tropheryma whippelii that usually manifests with joint pain, @PHENOTYPICFEATURE$, diarrhoea and abdominal pain.	false
+9352e8e0f63142771905a728753c52c30f3a5605	@DISEASE$ is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, fever, and @PHENOTYPICFEATURE$.	has_symptom
+a2ca39aa8edfdbe5be9b245275a9b4f69e2429e5	@DISEASE$ is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, @PHENOTYPICFEATURE$, and abdominal pain.	false
+c3e92649040236eea73bb42af7658f462b9b6db9	Whipple disease is a rare systemic illness characterized by arthralgias, @DISEASE$, weight loss, @PHENOTYPICFEATURE$, and abdominal pain.	false
+fca93ec574eab4f616269d9acda78f97ceb9fc51	Whipple disease is a rare systemic illness characterized by arthralgias, chronic diarrhea, weight loss, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8996cbb83ffc1f39e279bbd7b0244e0206bb1ea5	The case of a middle-aged male is described, who after a three-year period of migratory arthralgias, showed weight loss, diarrheas and @PHENOTYPICFEATURE$, being diagnosed of Giardiasis, and after the persistent symptoms and a number of studies, was diagnosed with @DISEASE$.	has_symptom
+8f038f991d94bd619ce0a377d88ec39c8855d66a	The case of a middle-aged male is described, who after a three-year period of migratory arthralgias, showed @PHENOTYPICFEATURE$, diarrheas and abdominal pain, being diagnosed of Giardiasis, and after the persistent symptoms and a number of studies, was diagnosed with @DISEASE$.	false
+fbbcd47e39aa1d097c4991a2e1fe1b8c61f26c9b	The case of a middle-aged male is described, who after a three-year period of migratory arthralgias, showed @PHENOTYPICFEATURE$, diarrheas and @DISEASE$, being diagnosed of Giardiasis, and after the persistent symptoms and a number of studies, was diagnosed with Whipple disease.	false
+dca916ae537b56f4f375b1345b00534ce4d4cd15	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, mental retardation and striking phenotypic features (e.g., brachyturricephaly, @PHENOTYPICFEATURE$, midface hypoplasia and low-set ears) consistent with @DISEASE$.	has_symptom
+d907b312fc462e6835e2f972759da4c2cafe2e9a	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, @PHENOTYPICFEATURE$ and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with @DISEASE$.	false
+bea594547ee67d41d5152968c77bbe8e43d66088	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, @PHENOTYPICFEATURE$ and striking phenotypic features (e.g., brachyturricephaly, @DISEASE$, midface hypoplasia and low-set ears) consistent with Gomez-Lopez-Hernandez syndrome.	false
+c6b93af96e4def9ce7fc52151dd872125c09cb3d	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, @PHENOTYPICFEATURE$, mental retardation and striking phenotypic features (e.g., brachyturricephaly, @DISEASE$, midface hypoplasia and low-set ears) consistent with Gomez-Lopez-Hernandez syndrome.	false
+6b3a32a5800738c48f0c65339d87d3daa46402e7	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, @PHENOTYPICFEATURE$, mental retardation and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with @DISEASE$.	false
+f73101b6b589e6abec7c298553bf7cc3c09ca99c	X-linked hydrocephalus and the X-linked @DISEASE$ (@PHENOTYPICFEATURE$.	has_symptom
+7e538be17897edd40b91c01ae2190539fc5b4304	X-linked @PHENOTYPICFEATURE$ and the X-linked MASA syndrome (@DISEASE$.	false
+0922aae93dc38e4e18abe3bcca8425db6e4606e6	X-linked @PHENOTYPICFEATURE$ and the X-linked @DISEASE$ (Mental retardation.	false
+68d130c69d2812a05ae651d02bfa01ffe9a0e611	The @DISEASE$ is an X-linked disorder with @PHENOTYPICFEATURE$, spastic paraparesis, and adducted thumbs as the most characteristic features.	has_symptom
+d3c16b4200f691844d3bb3c8e08a3a14ee91610b	L1 at Xq28 is the target for mutation in a complex @PHENOTYPICFEATURE$ disorder termed the @DISEASE$ (also sometimes referred to as CRASH syndrome).	has_symptom
+5697a8334c13f026e9fe6af7e97bcb2c0915a905	L1 at Xq28 is the target for mutation in a complex @PHENOTYPICFEATURE$ disorder termed the L1 syndrome (also sometimes referred to as @DISEASE$).	has_symptom
+870a6b11f6253fcfd307bf56680361717495e60a	[The @DISEASE$ (@PHENOTYPICFEATURE$, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].	has_symptom
+f7cdcccddcab0bcf41604af6492c1d3f96bac7cc	@DISEASE$ includes @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait and aphasia or speech delay.	has_symptom
+f0915c4efa202765cf2aed7e0a7dc3d67c5b13f4	MASA syndrome includes @DISEASE$, adducted thumbs, shuffling gait and aphasia or @PHENOTYPICFEATURE$.	false
+5c43738e73c1d519e9a45811f618be3b5815feb5	@DISEASE$ includes mental retardation, adducted thumbs, shuffling gait and aphasia or @PHENOTYPICFEATURE$.	false
+fd37b2dc6cae89cee5d6d573fc9b954c2bf2402b	We report on a family with three males with @DISEASE$ (@PHENOTYPICFEATURE$, aphasia, shuffling gait, and adducted thumbs).	has_symptom
+6ab05673185761b17ef59ca04fc0036db27252a6	Fine mapping of X-linked clasped thumb and @PHENOTYPICFEATURE$ (@DISEASE$) in Xq28.	has_symptom
+b011e9f4a27a680658f78f5e1d5eca2d2397f857	@DISEASE$ (@PHENOTYPICFEATURE$, aphasia, shuffling gait and adducted thumbs) is an X-linked disorder first described in 1974.	has_symptom
+33d26e6d1abda743b2075b275573f45f85f3b9f4	@DISEASE$ is the acronym for @PHENOTYPICFEATURE$, Aphasia, Shuffling gait and Adducted thumbs.	has_symptom
+8fd4a444193b276fcbfbb00384cf6907cf19a483	The @DISEASE$: a new heritable @PHENOTYPICFEATURE$ syndrome.	has_symptom
+39bcb548cca49e4c0a0076afe4d122078809f598	Only @DISEASE$ displays additional neurological symptoms, which are @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+2a7ea873ec684df36c76cbd383dca0113ff56c3a	Only Norrie disease displays additional neurological symptoms, which are @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c6f5dfed1138de4962a331838a8c5aa8e9e6c069	Only @DISEASE$ displays additional neurological symptoms, which are sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+8f89789e6e18efec0c021910de71189730ff188b	Vascular defects and @PHENOTYPICFEATURE$ in a mouse model of @DISEASE$.	has_symptom
+01ef95590ea094baa1f81c4c8d1bcd9bb593f7fa	X-linked syndromes associated with developmental delay and @PHENOTYPICFEATURE$ (SNHL) have been characterized at the molecular level, including Mohr-Tranebjaerg syndrome and @DISEASE$.	has_symptom
+d61bd205471fccbab20b6cf58b256e89cc561472	@DISEASE$ is a rare X-linked congenital retinal vasculopathy that may be accompanied by @PHENOTYPICFEATURE$, mental retardation, and other neurological deficits.	has_symptom
+770a2a79e722b97e111f15594195fdfeff01a46a	Norrie disease is a rare X-linked congenital retinal vasculopathy that may be accompanied by @DISEASE$, @PHENOTYPICFEATURE$, and other neurological deficits.	false
+ae2ebac01e4e3133f0a13fcb233ab28d6c612e31	@DISEASE$ is a rare X-linked congenital retinal vasculopathy that may be accompanied by sensorineural deafness, @PHENOTYPICFEATURE$, and other neurological deficits.	false
+3bdc21808a2ad3f8054da05ccc43e56d80e58d12	Only one third of patients with @DISEASE$ have @PHENOTYPICFEATURE$, and approximately one half of the affected individuals exhibit mental retardation, often with psychotic features.(3)	has_symptom
+b34d7a09b378b2b753c4817a6bee61a5d68f515d	Only one third of patients with @DISEASE$ have sensorineural deafness, and approximately one half of the affected individuals exhibit @PHENOTYPICFEATURE$, often with psychotic features.(3)	false
+3184485f731fed51c3e52cb983007db2e6899250	Only one third of patients with Norrie disease have @DISEASE$, and approximately one half of the affected individuals exhibit @PHENOTYPICFEATURE$, often with psychotic features.(3)	false
+ef3d1f48712fc2e9fd60fb49342fb4f1b1ab83b8	@DISEASE$ (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+511b84474e704455e388b8f8a2626f08528965f2	Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+043edd778e7c5861ccfb85c75c37b07f37b13f8a	Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital @DISEASE$, which is often associated with sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+568ab94345b40e82099fe2305a6d11b899f7553d	@DISEASE$ (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+a8ae62ddc56e2264744d08e814c59b5fb8e722e9	@DISEASE$ is an X-linked retinal dysplasia that presents with congenital blindness, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+ab18d30159a458d91f41151d67a297fa20f19320	@DISEASE$ is an X-linked retinal dysplasia that presents with congenital blindness, sensorineural deafness, and @PHENOTYPICFEATURE$.	false
+3b88fb74dad6b2fdf258b487ba9f836ad10a2fae	Norrie disease is an X-linked retinal dysplasia that presents with congenital @DISEASE$, sensorineural deafness, and @PHENOTYPICFEATURE$.	false
+db8191ac5a24cbf492a34d43a4cfb3101116a1a9	Norrie disease is an @DISEASE$ that presents with congenital blindness, sensorineural deafness, and @PHENOTYPICFEATURE$.	false
+c9a609954ee523fa5e41cef7e8545449c07f0c8f	Norrie disease is an X-linked retinal dysplasia that presents with congenital blindness, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3b61ecb00bdd0bb97218e15e1fec371e4b2bc443	@DISEASE$ (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive @PHENOTYPICFEATURE$ and cognitive impairment.	has_symptom
+6bcf7280d609290c1110c88d64ae55a30aeffdeb	@DISEASE$ (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+40f6ecf29c1078d6c3cd34170b66c78344d94080	Norrie disease (ND) is an X-linked recessive disorder characterized by congenital @DISEASE$, progressive sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+42f2296c22c8e0fe653f368d947efcaa1798770c	Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7e8921ed0c46f99a97789cb01073b2919589216b	Otitis media with effusion (OME) is the most common cause of @PHENOTYPICFEATURE$ in children and is strongly associated with @DISEASE$ (PCD).	has_symptom
+d81b10b779058c1032f19178ac9e5c5f8aa4b999	Otitis media with effusion (OME) is the most common cause of @PHENOTYPICFEATURE$ in children and is strongly associated with primary ciliary dyskinesia (@DISEASE$).	has_symptom
+bba15eeafa9022bea5a7661b8e70f88889e485e1	Fifty-two cases of motor neuron disease seen in two Halifax hospitals were reviewed.Thirty-three (63.5%) had @DISEASE$ (26.9%) had primary @PHENOTYPICFEATURE$, four (7.7%) had bulbar palsy and one (1.9%) had primary lateral sclerosis.	has_symptom
+e4e90cb5f408f75dd1c0c33c8b60aa0550d4e65b	We describe 2 patients with a partial @DISEASE$ (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	has_symptom
+48d6d55a0919efd459f350ba64306cdd7c2cd7a0	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, hypoparathyroidism, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	false
+40d358cc299f71fa7ac3e56305fb438596aa67ff	We describe 2 patients with a partial DiGeorge syndrome (@DISEASE$, @PHENOTYPICFEATURE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+3f80c592691934cec8f99946f2d709dd6ec29022	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+010f155c72cef8c2040f894ded4508f4d53f4dfa	We describe 2 patients with a partial DiGeorge syndrome (@DISEASE$, hypoparathyroidism, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	false
+42b6b44b3f2ce65de727b793f19750aba570888e	@DISEASE$ or anomaly consists of a developmental field defect which is characterized by congenital absence or hypoplasia of the thymus and parathyroids, as well as @PHENOTYPICFEATURE$ and congenital heart defects.	has_symptom
+d55ca7d7018b888207279f0956249e2b1c98aaa6	DiGeorge syndrome or anomaly consists of a developmental field defect which is characterized by congenital absence or hypoplasia of the thymus and parathyroids, as well as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+313faec2e189826c1038323b4d3ba0fbb5143a9c	@DISEASE$ or anomaly consists of a developmental field defect which is characterized by congenital absence or hypoplasia of the thymus and parathyroids, as well as facial dysmorphism and @PHENOTYPICFEATURE$.	false
+07552f70bc324765ac23dbf5b63910c013e5aece	Based on nasal regurgitation and @PHENOTYPICFEATURE$, the possibility of @DISEASE$ was suspected and was confirmed by fluorescence in situ hybridization.	has_symptom
+d23ba062e02fbd7b1f823d3a25f9525886340c71	The @DISEASE$ (DS) is a common multiple anomaly syndrome in which typical features include congenital heart defects, @PHENOTYPICFEATURE$, and palatal anomalies.	has_symptom
+5d776928a942b744d3b5bb50403f38551def3883	The @DISEASE$ (DS) is a common multiple anomaly syndrome in which typical features include @PHENOTYPICFEATURE$, facial dysmorphism, and palatal anomalies.	false
+01f97df08e275ad623628830a1e6a981ddc41894	The 22q11.2 deletion syndrome (DS) is a common multiple anomaly syndrome in which typical features include @PHENOTYPICFEATURE$, @DISEASE$, and palatal anomalies.	false
+aa805aef1252a44af53f6ba21a674dde7abc8176	The 22q11.2 deletion syndrome (DS) is a common multiple anomaly syndrome in which typical features include @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$ anomalies.	false
+edbb88928b8bae45dc01b90d97c8483e1f9924b5	The 22q11.2 deletion syndrome (DS) is a common multiple anomaly @DISEASE$ in which typical features include @PHENOTYPICFEATURE$, facial dysmorphism, and palatal anomalies.	false
+c59ff2b46e2fcf075db4d635f7b41f1c0eeb8418	We report a male infant with partial @DISEASE$ characterized by truncus arteriosus, typical @PHENOTYPICFEATURE$, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	has_symptom
+fdba5155dc2df4b16bd8c377d6a772bbc8481c6f	We report a male infant with partial @DISEASE$ characterized by @PHENOTYPICFEATURE$, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+3094db9631568d3dac4d4093f8bee23e371fff2b	We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical @DISEASE$, @PHENOTYPICFEATURE$, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+9b128c43206d21e2abb48cc58b8d647b17bb2d91	We report a male infant with partial @DISEASE$ characterized by truncus arteriosus, typical facial dysmorphism, @PHENOTYPICFEATURE$, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+ec57671a000863aaa2c9dd8a902963a4309ed1fb	We report a male infant with partial DiGeorge syndrome characterized by @PHENOTYPICFEATURE$, typical @DISEASE$, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2	false
+4359da4cc310b02f9797ab9d876950609f125a3a	@DISEASE$ is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical @PHENOTYPICFEATURE$.	has_symptom
+d92950f3d8adc0a32f17c9926fbf1c766694c2f0	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+4f807d809e2084e341bf13dda7938f408bfc6a1f	DiGeorge syndrome (@DISEASE$) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+fb3052f233e7817330ee1973794583b303cc029c	DiGeorge syndrome (DGS) is a developmental defect characterized by cardiac defects, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1ddf6107844f4d0a7e8c5b77991c32d3fb9ffe49	@DISEASE$ (DGS) is a developmental defect characterized by cardiac defects, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+f3111831903dd64e67e5f81d4f8f455b21703646	@DISEASE$ (DGS) is a developmental defect which associates hypo- or aplasia of the thymus and parathyroids, @PHENOTYPICFEATURE$ and conotruncal cardiac malformations.	has_symptom
+c2205167510e6873ea2d3b27882c6db3759601f2	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability and primary hypoparathyroidism.	has_symptom
+3583dc3386335591f39746b3644f1d6d91d030ef	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	false
+3a1103d2fd49487d6c8208bf32e1b371854c59c1	Clinicians should consider the diagnosis of @DISEASE$ in adult patient with past medical history of congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	false
+78a24c37ad68dc3a61191b2c858331717dafca75	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$ and primary hypoparathyroidism.	false
+0ab2ef111abf1e276fd1b9fa11d4f1e848d6310f	Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, @PHENOTYPICFEATURE$ and primary @DISEASE$.	false
+e43e5bc8422ec872c2eed077e2abd06d18ba4486	The @DISEASE$ presents clinically as a combination of a congenital cardiopathy with immune deficiency and predisposition to infections, signs of hypoparathyroidis with severe hypocalcaemia in the neonatal period, and @PHENOTYPICFEATURE$.	has_symptom
+2b5670ef1acece14edf0da09d18628ab4c08617e	The incidence of @PHENOTYPICFEATURE$ formation in patients with primary @DISEASE$.	has_symptom
+1b26a65bb45202c1d956efb0a60ccb192c188eaf	Chronic hypokalemia is known to induce @PHENOTYPICFEATURE$ formation in some diseases including primary aldosteronism, @DISEASE$, Liddle disease and apparent mineralocorticoid excess syndrome.	has_symptom
+2b7a4e365d9de41d1f11cc5385161457c66f2cb6	Although the precise mechanism for @PHENOTYPICFEATURE$ formation has not yet been established, renal cysts may be a common complication of primary @DISEASE$.	has_symptom
+e9cc740a22ae207229563efef4f40faf1772ebe4	Although the precise mechanism for renal cyst formation has not yet been established, @PHENOTYPICFEATURE$ may be a common complication of primary @DISEASE$.	has_symptom
+5c67e9fc113927dd71d9361daaaf2ed483f18f64	Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, Norrie disease, @DISEASE$, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and @PHENOTYPICFEATURE$ with coloboma (1 family each).	has_symptom
+59b6ad7583c855c55d90321ef9f7c26f51ca86e2	@DISEASE$ is the major nongenetic cause of @PHENOTYPICFEATURE$ at birth and beyond.	has_symptom
+ef85657c6a2d3e63043f40814cf8c96afe240f9e	@DISEASE$: a cause of @PHENOTYPICFEATURE$.	has_symptom
+ac870ac21a2743339dbb38ee501be56dcf54ae27	Progressive and fluctuating @PHENOTYPICFEATURE$ in children with asymptomatic @DISEASE$.	has_symptom
+ea9e8468eb228f205578a4aa7b776b3f2d4e8fe8	@PHENOTYPICFEATURE$ in a pediatric population: association of @DISEASE$ with intracranial abnormalities.	has_symptom
+4ef2b4ebb56f2431bbcf002d7506e3985f82c3a3	@DISEASE$ is a significant cause of moderate to profound @PHENOTYPICFEATURE$ in Queensland children.	has_symptom
+276839614d4eda137a1872de459ca4cc2c3898f5	A 10-year prospective study of @PHENOTYPICFEATURE$ in children with @DISEASE$.	has_symptom
+7a6ce2675c676db07eaacb0254c68f6366552ef0	Late-onset @PHENOTYPICFEATURE$ due to @DISEASE$: could head injury be a trigger?	has_symptom
+1ad661c754b487d858d2b7cc1946c2b0224574ef	A wider role for @DISEASE$ in @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0abf09767832f0309a19fafa1b27c000d8732217	Cytokine gene polymorphism associations with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+2ae7a2f75a08727a658c152290022fcb6e7e34d3	@PHENOTYPICFEATURE$ (@DISEASE$) in a newborn with tetralogy of Fallot, detected by magnetic resonance imaging.	has_symptom
+d6eb3f390ff52fde75bbdfaf53f78f5a45360015	@PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+ed61909b0f6d29a69cb41a76c3d50f02facdaed7	@DISEASE$ (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, @PHENOTYPICFEATURE$, and mental disorders.	has_symptom
+16351c2878449db322b2b29c14830f4675e95e5e	DiGeorge syndrome (@DISEASE$) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, @PHENOTYPICFEATURE$, and mental disorders.	has_symptom
+c2769f47a272e1e4ea2f43a76985142263c6b5e7	Hemopoietic changes in partial @DISEASE$ (partial @PHENOTYPICFEATURE$).	has_symptom
+0c203e5740324c285988eb8b297fb56e2a698eb5	Finally, the pathologic presentation of @PHENOTYPICFEATURE$ (@DISEASE$) is discussed.	has_symptom
+b477b9ff330003111fb6d19b173d6d50ea493d8b	@DISEASE$ is a congenital anomaly with a constellation of findings that includes @PHENOTYPICFEATURE$.	has_symptom
+dd8ab2b8ca78f92975841eb82729f0c501a9561b	@DISEASE$: congenital @PHENOTYPICFEATURE$.	has_symptom
+d67d2807dfd3dd083a82dfdf33b36b2327ce6d0f	@DISEASE$ (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and @PHENOTYPICFEATURE$.	has_symptom
+058a8d5e01de5ce6ab9a32f8f5ba9e62a903bc99	DiGeorge syndrome (@DISEASE$) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and @PHENOTYPICFEATURE$.	has_symptom
+a1e2cd7c5f5bad1aad5f0119d0ea5512bbbd5641	are associated with @PHENOTYPICFEATURE$ and features resembling @DISEASE$.	has_symptom
+2a2006d0f271ab96b458837ebc42b3238d52b55d	@DISEASE$ (DGS) comprises @PHENOTYPICFEATURE$, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies.	has_symptom
+17d68ed1adf8b686f82266a0d9baff374f0f94a8	DiGeorge syndrome (@DISEASE$) comprises @PHENOTYPICFEATURE$, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies.	has_symptom
+d527153506e80ae6bd468a6dd1c6cd16a91b3778	Wolcott-Rallison syndrome (@DISEASE$) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	has_symptom
+6e3bc891c8825c00224e3297c9280128781aee36	@DISEASE$ (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	has_symptom
+51243898c9c2497e4be2db3324d68238b0dc1f0d	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by @DISEASE$ (PNDM) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	false
+26a9185e5bb4f5f340352757de13f9170b126435	@DISEASE$ (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	false
+8b20da5a59089150bc0c1df175298501aff5fe5f	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with @PHENOTYPICFEATURE$, @DISEASE$ and liver dysfunction.	false
+f6a3c07e045a9b78bdbe1123a7a1d21d23ad77e8	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (@DISEASE$) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	false
+32b53b9ab0fbe63dee0a4ae7ead22df5dbc0a79b	Wolcott-Rallison syndrome (@DISEASE$) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	false
+3ea25fbcd967086e0157bea86b530c186c8c0229	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+4e81958d84aefd9c0b18f3357eac83363c0b5aaf	@DISEASE$ (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+57dc81bb8f34bfbc7c0939222f1d375f541ba09a	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8b7a47286e4cc16c30efe1e9b17ff2ff8397ae40	Wolcott-Rallison syndrome (WRS) is a rare @DISEASE$, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @PHENOTYPICFEATURE$ and growth retardation.	false
+cbee03745d70c34719724e69d433ad7b24afc176	@DISEASE$ (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @PHENOTYPICFEATURE$ and growth retardation.	false
+aee8f536e222051ef1e9082c6f15573b1a54c07b	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with @PHENOTYPICFEATURE$ and growth retardation.	false
+e3edc4597640d521d14118cba0fb5253db06fb07	Rare mutations in EIF2AK3 cause @DISEASE$ (OMIM 226980), an autosomal recessive disorder characterized by diabetes, epiphyseal dysplasia, osteoporosis, and @PHENOTYPICFEATURE$.	has_symptom
+4fb5b7b436d5e126253cbe6c057280b0dd3a6bde	Wiedemann-Rautenstrauch syndrome (@DISEASE$) is a neonatal progeroid disorder characterized by @PHENOTYPICFEATURE$, lipodystrophy, a distinctive face, and dental anomalies.	has_symptom
+e490a21ffc48c14cbf48793ac245fe3d054109ce	Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by @DISEASE$, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+79a9baa27bed7fa4bf707bf286ba2ac480586510	Wiedemann-Rautenstrauch syndrome (@DISEASE$) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+602f3b34ee40c97cdfe47e7388c106211da73896	@DISEASE$ (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+db1068f112a0d3917edfd6da7e0a3afb233557cf	Wolcott-Rallison syndrome (@DISEASE$) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+f6a0159663012620213c9c7c5305583c42ccd327	@DISEASE$ (WRS) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+9525b84177831c4f98b34f7ec93fd671e8e06336	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, skeletal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+b021c2cb1bb9cc656c7f87b6a6c880ca0ac4c4e0	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, skeletal dysplasia and @PHENOTYPICFEATURE$.	has_symptom
+7652ebbf4c383f792ff7544009c590921c19f666	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, @PHENOTYPICFEATURE$ and growth retardation.	false
+ac4af708d7815635cd4b9b172a1743fcf1fadff3	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset @DISEASE$, @PHENOTYPICFEATURE$ and growth retardation.	false
+956ca018617334665506bba87d3dfca79ca20b6f	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+50096db0993cb7290f4e90dc328ac390f33c8ba9	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, @PHENOTYPICFEATURE$ and growth retardation.	false
+6a3f1fd59845c7092e5d0141525120b6c05d308d	Early-onset diabetes, liver dysfunction, @PHENOTYPICFEATURE$, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of @DISEASE$ (WRS).	has_symptom
+553caa334c81d6c737efb49a438e996159f83e9b	Early-onset diabetes, liver dysfunction, @PHENOTYPICFEATURE$, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (@DISEASE$).	has_symptom
+2b4eb2dbd617e15af81604c72d248970f395f659	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and @PHENOTYPICFEATURE$.	has_symptom
+b9e7d555cb2db9d4676f912557350ab5f55aed6f	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and @PHENOTYPICFEATURE$.	has_symptom
+4554ec2d3479bc58e5da39fe833aee4b87c8f0f2	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple bone dysplasia, hepatic dysfunction, and @PHENOTYPICFEATURE$.	has_symptom
+b882152a1ff64ae399adf3a141255408d27504b2	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple bone dysplasia, hepatic dysfunction, and @PHENOTYPICFEATURE$.	has_symptom
+ef0b0a2d867eb422773754e77ff165e5c8158e6d	@DISEASE$ (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and @PHENOTYPICFEATURE$, and other variable multisystem clinical manifestations.	has_symptom
+a315b2ae62ceed559e8cd8bc835565b06b37e206	Wolcott-Rallison syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and @PHENOTYPICFEATURE$, and other variable multisystem clinical manifestations.	has_symptom
+d8a88adc166e9a3aee2b51cf9d52799f0cb43dfe	The @DISEASE$ is characterized by in a electrocardiographic pattern of right bundle branch block and ST-segment elevation in the right precordial leads, absence of any structural heart disease and @PHENOTYPICFEATURE$ episodes or sudden death.	has_symptom
+480061dd7a9cd8d8c148a8d7b6aac309877afb65	Mutations in Amyloid ? Precursor Protein (APP) and in genes that regulate APP processing--such as PSEN1/2 and ITM2b/BRI2--cause familial @PHENOTYPICFEATURE$, such Familial Alzheimer disease (FAD), Familial Danish (FDD) and British (@DISEASE$) dementias.	has_symptom
+8777c0e68cfcba8c774f6d93b0e58ee4408299a1	In addition, our patient developed microcephaly and @PHENOTYPICFEATURE$, two features not previously reported in @DISEASE$.	has_symptom
+bc7455f426ee6473a252ba30237b1246478860b5	In addition, our patient developed @PHENOTYPICFEATURE$ and @DISEASE$, two features not previously reported in MEGDEL syndrome.	false
+00a580b13f46c719a43c181ced46555a4291abd8	In addition, our patient developed @PHENOTYPICFEATURE$ and optic atrophy, two features not previously reported in @DISEASE$.	false
+5449a10eb7197005b664564eed1c7dbbaaaeae16	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral @PHENOTYPICFEATURE$, microcephaly, and myoclonic epilepsy.	has_symptom
+929def73f8e7ea408a991a11d18ad25678a50f6f	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @DISEASE$, microcephaly, and myoclonic epilepsy.	false
+66914163b93a6386be4b27439f39367099991516	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+3196e80188ed2156c527d14ce19fb906eb790fb7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+b90d82d41af3217038c93b2ecc089765c560dcef	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+b1e44989df32c57eb19a4466cb169438c2921d7e	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @DISEASE$, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	false
+fe170c861820d77148630c8327cb933bd28107cb	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, @PHENOTYPICFEATURE$, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral @DISEASE$, microcephaly, and myoclonic epilepsy.	false
+1cc662efbd6b93607d6c1db5595fed91a34428c7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, @PHENOTYPICFEATURE$, and myoclonic epilepsy.	false
+4f027a6b14abef10096c03f07f941552dfa28c24	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, @PHENOTYPICFEATURE$, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.	false
+209b57d5f789a70ad03dacb11b7168a36dfc8e21	Heterozygosity for mutations in the fibrillar collagen gene COL11A1 causes @PHENOTYPICFEATURE$ in patients with Stickler syndrome or @DISEASE$.	has_symptom
+30c15d8af7fae0346736af5198dec61d20c9d033	The @DISEASE$ is an autosomal dominant trait comprising ocular abnormalities, @PHENOTYPICFEATURE$, craniofacial anomalies, and anhidrotic ectodermal dysplasia.	has_symptom
+9810cd5f145afedb5baebf5737117bbdb859ef92	@DISEASE$ is a dominant disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	has_symptom
+0b8e4369f7a80eb2d6bdf733402dbff52ae6456c	@DISEASE$ is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and @PHENOTYPICFEATURE$, and is associated with splicing mutations in COL11A1.	false
+473ac78465400b1aaf130c19b6e347165e4f1b00	Marshall syndrome is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, @DISEASE$, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+47c8b87c5b5c55518ce42ceecd5eb20c630f258f	Marshall syndrome is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and cataracts, and is associated with splicing mutations in COL11A1.	false
+1fd27ed2b5e4a3273d21bf48b97cbac59e4481ff	@DISEASE$ is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+e45d36fc6d969ca91e5a50a91c8c44d67bacf936	Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, @DISEASE$, and @PHENOTYPICFEATURE$, and is associated with splicing mutations in COL11A1.	false
+08552c70311d4c8db521d1f41ab5205f39119f73	Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, @DISEASE$, myopia, and @PHENOTYPICFEATURE$, and is associated with splicing mutations in COL11A1.	false
+289d96ef224ebb5fe6d4ed67490c86f0c8d36350	Our results also indicate that cognitive dysfunction in patients with @DISEASE$-@PHENOTYPICFEATURE$ may be associated with prefrontal involvement.	has_symptom
+b1de80fe6f1ded8de3c1ed2193bbebf17210e633	Patients with @DISEASE$-@PHENOTYPICFEATURE$ show more severe and more widespread cognitive dysfunctions than patients with multiple system atrophy-cerebellar ataxia.	has_symptom
+beabe701dc5c17c7d24c876f3267ce9017195e0a	Patients with multiple system atrophy-@PHENOTYPICFEATURE$ show more severe and more widespread cognitive dysfunctions than patients with @DISEASE$-cerebellar ataxia.	has_symptom
+e3df62667736e60d6770e1e48a4af3df96abbdd3	Patients with @DISEASE$-parkinsonism show more severe and more widespread cognitive dysfunctions than patients with multiple system atrophy-@PHENOTYPICFEATURE$.	false
+6936c93a065d2bace34f7f4a950527e84eea6e17	Patients with multiple system atrophy-parkinsonism show more severe and more widespread cognitive dysfunctions than patients with @DISEASE$-@PHENOTYPICFEATURE$.	false
+ee57af372bb7d4c57c12ecb13987679985e18437	Patients with multiple system atrophy-@DISEASE$ show more severe and more widespread cognitive dysfunctions than patients with multiple system atrophy-@PHENOTYPICFEATURE$.	false
+c04100d111cf056bc942eb823841a17b9e862828	To investigate the utility of fluid-attenuated inversion recovery (FLAIR) imaging for diagnosing @DISEASE$-@PHENOTYPICFEATURE$ (MSA-P).	has_symptom
+1dcbca6f1c48a397e1a76522324e949ccedb39a2	Bilateral subthalamic stimulation was performed in four patients with @DISEASE$-@PHENOTYPICFEATURE$.	has_symptom
+f89b659fd6c9a47964c1335b69d875d46c214128	Use of diffusion tensor imaging to identify similarities and differences between cerebellar and @PHENOTYPICFEATURE$ forms of @DISEASE$.	has_symptom
+2736c727600b16e178cd9a0b9f650946ceabdd6f	Average age of onset was earlier in multiple system atrophy-cerebellar ataxia (58.4 years) compared to @DISEASE$-@PHENOTYPICFEATURE$ (62.3 years; P < 0.001).	has_symptom
+541f06f2c855d0f3e546e6bea6f3bff952bc5b63	Average age of onset was earlier in @DISEASE$-cerebellar ataxia (58.4 years) compared to multiple system atrophy-@PHENOTYPICFEATURE$ (62.3 years; P < 0.001).	has_symptom
+c70740869aac0cd228a3e22dde256b4df936a21b	Average age of onset was earlier in multiple system atrophy-@PHENOTYPICFEATURE$ (58.4 years) compared to @DISEASE$-parkinsonism (62.3 years; P < 0.001).	false
+fb744a14d9991e4cb2169cfdb7279f92e7664b80	Average age of onset was earlier in @DISEASE$-@PHENOTYPICFEATURE$ (58.4 years) compared to multiple system atrophy-parkinsonism (62.3 years; P < 0.001).	false
+c2a2cd7b67573b0113f4685e3f86ef97a3f2546b	Average age of onset was earlier in multiple system atrophy-@PHENOTYPICFEATURE$ (58.4 years) compared to multiple system atrophy-@DISEASE$ (62.3 years; P < 0.001).	false
+cb632a06fae02cba52ed33e7b4d638503f8045c2	Progression of @PHENOTYPICFEATURE$ motor impairment is usually rapid and relentless in @DISEASE$ (MSA).	has_symptom
+14cf83f53b5c96ad35649f37a56be921d8df1848	Urogenital symptoms in Parkinson's disease and @DISEASE$-@PHENOTYPICFEATURE$: at onset and later.	has_symptom
+0ee850277ca0adb9145d0a7ef2bff05c76624ee1	The utility of cerebral perfusion SPECT analysis using SPM8, eZIS and vbSEE for the diagnosis of @DISEASE$-@PHENOTYPICFEATURE$.	has_symptom
+ed197d9a0e4914254c7817670e3adf29ebb19ada	Effects of deep brain stimulation in relatively young-onset @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+4c09eef588540ad935bd9ee0c09fa823f4c55d2c	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, abnormal spontaneous filtering blebs, ectopia lentis and multiple anterior segment abnormalities.	has_symptom
+2d9c96fa784a093c08efbb1607cb34373e0c7888	@DISEASE$ is an extremely rare ophthalmological disorder characterised by @PHENOTYPICFEATURE$, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs.	has_symptom
+d991a0b4e4d9d6a07daaefa43aed7bdd632641e5	We have previously described a syndrome characterized by @PHENOTYPICFEATURE$, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB, or @DISEASE$).	has_symptom
+0a89c41fc61ae9a6192167beda6bc25853dc3c7a	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ with iron accumulation caused by a mutation of the gene encoding ferritin light polypeptide (FTL).	has_symptom
+52f1deaf94a19b081c278d813aac21789afff1ab	@DISEASE$ (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with @PHENOTYPICFEATURE$, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	has_symptom
+1d214b27d9fb417d13c29759ec81e4c0435e17b3	Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant @DISEASE$ that presents in females with macrocephaly, @PHENOTYPICFEATURE$, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	false
+d5fe061e317ceffea8b0b2d5a0def21c326bfa2a	Osteopathia striata with cranial sclerosis (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with @DISEASE$, @PHENOTYPICFEATURE$, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	false
+929995fb8d2f13fb704942457c0d9a5cd8f33dd2	@DISEASE$ (OMIM ##300373) is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, @PHENOTYPICFEATURE$, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.	false
+9e9b28c543ebdbcf19972ad621c23fb42df39a67	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, @PHENOTYPICFEATURE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	has_symptom
+399b7fb35b28e849312ac9105abc698fba3f90ee	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by @PHENOTYPICFEATURE$, @DISEASE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	false
+9ab28c9c9879ea7b04e75e43177b9d53cf135d28	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @PHENOTYPICFEATURE$.	false
+7618c19e66a8dbc5976fa8c957a927566a3dc1f0	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, @DISEASE$, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and mental retardation.	false
+e7000f0bc8d2e690ef8be1637fefeade0196e09b	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, @DISEASE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @PHENOTYPICFEATURE$.	false
+23e4a97ff501cd4da4a4d077c41f9b5d0d74c3db	@DISEASE$ (OS-CS) is a bone dysplasia characterized by @PHENOTYPICFEATURE$, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	false
+357f290783752e9b94d833544f0bf8f4bce09f43	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and mental retardation.	false
+2d9676aaf37ffca657ebfb67d5571d7b70fd418a	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	has_symptom
+d3faa67eca1a921f6dcbaa047b101df8f2c4c170	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+06d2b09fb6554748ebd2445830649fd717ff2a66	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+116ab63228b792edd57864ce892de0f829376a5f	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @DISEASE$, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+6adda1a54628e3bce93b152e2d6c40e1eaa6ba4f	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, @DISEASE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+87f21baa240141cdaa55c754e78606b1aed8333f	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+1b3ea5c21a9c8310cc7e4bc506dea2decf687672	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+2a3532077a8d735187193ebbac21a8948444a936	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @DISEASE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+7778657576d5894524a60b9975edc5c1b1319f78	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+ecbcd38514568a3147831dcbd6c974bdd28235c3	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+6e469dc3b5f275cd28ce907c7d650e6aebbe06eb	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @DISEASE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+923f8c5aab563a950d58b36dcb84af6b97268208	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+922c8e057e15ae4cd8287b3ca316aaf0070e2731	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+e50d17b9babb60e8dc5dca147bb036d3538acf63	@DISEASE$ (OS-CS) is a rare syndrome comprising @PHENOTYPICFEATURE$, minor anomalies, conductive hearing loss, and mild mental retardation.	has_symptom
+115d56a34d15592c572194b1dac2f551865d2f07	@DISEASE$ (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, @PHENOTYPICFEATURE$, and mild mental retardation.	false
+0c7af2e37df898c799512b125e6dddd4e4525387	Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising @DISEASE$, minor anomalies, @PHENOTYPICFEATURE$, and mild mental retardation.	false
+c68a393d36c87f175f1b62ee574590a39413ba2f	Classical @DISEASE$ is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, @PHENOTYPICFEATURE$, etc. dependent on the mutation of the patients.	has_symptom
+0c90d2852be9c415154cbca6bd3af0bf4d51f7da	Classical galactosaemia is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by @PHENOTYPICFEATURE$, @DISEASE$, etc. dependent on the mutation of the patients.	false
+27c1e5a791d6541b54049f82ada24da48cd6b791	Classical @DISEASE$ is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by @PHENOTYPICFEATURE$, seizures, etc. dependent on the mutation of the patients.	false
+096406d49b24d5172aaf64cff9584dcc746c105b	Radiologically occult @DISEASE$ with @PHENOTYPICFEATURE$: case report.	has_symptom
+439ab27b303e0a13b9bc90af63480fba4f43f2f7	Management of @PHENOTYPICFEATURE$ in children with @DISEASE$: prognostic factors for shunting.	has_symptom
+18bc585494a988b5711dc7157a41061fb3f84b7c	Preoperative chemotherapy is feasible and safe in children with high-risk @DISEASE$ provided that the @PHENOTYPICFEATURE$ can be treated at diagnosis.	has_symptom
+1192295d295b53c5060d7bf71087ee52dbce8f26	A neonate was born with lumbosacral agenesis, paraplegia, and atrophic legs, and he developed @DISEASE$ with three ventricular @PHENOTYPICFEATURE$ 3?years later.	has_symptom
+bb40248628a1405397b78e85ed34b70ba382de30	One year earlier, he underwent VPS with the shunt-clamp system for a secondary @PHENOTYPICFEATURE$ after surgery for @DISEASE$.	has_symptom
+393d1d4bc21d6250f4c504dc1b843a31bfd68e62	This girl had received a VP shunt for @PHENOTYPICFEATURE$ following surgery of posterior fossa @DISEASE$ 4 years ago.	has_symptom
+e6f8778cbaf1fe2da19295ea111da038d407b210	Patients with @DISEASE$ frequently present with @PHENOTYPICFEATURE$.	has_symptom
+8bfa8597a55b39ee5c905b9fed03a820a8154283	The cerebellar @DISEASE$ had led to marked @PHENOTYPICFEATURE$.	has_symptom
+fa1199684ccb31cd853a2f1f2c76b644eedf70c6	Persistent @PHENOTYPICFEATURE$ was more frequent in children with severe preoperative hydrocephalus (p = 0.002) and with @DISEASE$ (p = 0.0154).	has_symptom
+e215ade024a29e5f532545755d659a4d8aa848db	Persistent hydrocephalus was more frequent in children with severe preoperative @PHENOTYPICFEATURE$ (p = 0.002) and with @DISEASE$ (p = 0.0154).	has_symptom
+93a0a574aad7523facb334aeca938c6b50ce5272	@DISEASE$ usually cause cerebellar ataxia and acute @PHENOTYPICFEATURE$ owing to their increase in size.	has_symptom
+005604000405f51c4956d034d5951420dd632842	@DISEASE$ usually cause @PHENOTYPICFEATURE$ and acute hydrocephalus owing to their increase in size.	false
+2fed36476d9b1dabd4fa91d8a4ba7e8f4621c7b1	Medulloblastomas usually cause @PHENOTYPICFEATURE$ and acute @DISEASE$ owing to their increase in size.	false
+01762fe523317ec80928a86c578371c1c7e1a1b0	Despite the dramatic response of sick neonates with @DISEASE$ to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal apraxia, and @PHENOTYPICFEATURE$, often develop.	has_symptom
+eb0bbfad0f93859357072acd4f39175be31d530a	Despite the dramatic response of sick neonates with @DISEASE$ to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal @PHENOTYPICFEATURE$, and ataxia, often develop.	false
+b2bfe1df7aebd1ea8d5b8febc4c1dcdf0f63add1	Despite the dramatic response of sick neonates with galactosemia to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal @PHENOTYPICFEATURE$, and @DISEASE$, often develop.	false
+5c6b54c0806fbb89aee14733322bd54e77b486ec	Movement disorders such as @PHENOTYPICFEATURE$ are a recognized complication of classical @DISEASE$, even in diet-compliant patients.	has_symptom
+f0c4efba76b6f4b7ee2628ba81d1bc06f4fc63a5	Newborn screening for classical @DISEASE$ does not change the long-term complications of the disease such as speech disorders, mental retardation, @PHENOTYPICFEATURE$ and in females hypergonadotropic hypogonadism.	has_symptom
+4e53ae7989ad93fc7d52f0e98a37ac4a8bb39f14	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, @PHENOTYPICFEATURE$, @DISEASE$ and in females hypergonadotropic hypogonadism.	false
+61272308346baf8efcef16378768c8261ddda0cd	Newborn screening for classical @DISEASE$ does not change the long-term complications of the disease such as speech disorders, @PHENOTYPICFEATURE$, ataxia and in females hypergonadotropic hypogonadism.	false
+11cbb629e1fc00ad2605fa5b37d48e40be2e08a4	Newborn screening for classical @DISEASE$ does not change the long-term complications of the disease such as @PHENOTYPICFEATURE$, mental retardation, ataxia and in females hypergonadotropic hypogonadism.	false
+78143f851038ee3ee8c4790021dbbebd81704153	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, @PHENOTYPICFEATURE$, ataxia and in females @DISEASE$.	false
+3fe663b9f5f0da0f635df9471a7cd0f00add877a	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as @PHENOTYPICFEATURE$, mental retardation, ataxia and in females @DISEASE$.	false
+0962f5916531a4d17b2541ffaa790fc37ce30a50	Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as @PHENOTYPICFEATURE$, mental retardation, @DISEASE$ and in females hypergonadotropic hypogonadism.	false
+34f9857da9f4a3ad76a0f46f8bb95d6292266c06	Further, @DISEASE$ should be included in the differential diagnosis of tremor and @PHENOTYPICFEATURE$ in the setting of mental retardation.	has_symptom
+c5ece902bf59858120f7d1f8c6e42dda517862a4	Further, galactosemia should be included in the differential diagnosis of tremor and @DISEASE$ in the setting of @PHENOTYPICFEATURE$.	false
+51102954455efb20f2cc65a70c47f9e19dad9544	Further, @DISEASE$ should be included in the differential diagnosis of tremor and ataxia in the setting of @PHENOTYPICFEATURE$.	false
+a95829c06d26aa79680d30fea19692d8269fb8df	It is important to consider a diagnosis of Friedreich ataxia in a child from the Irish Traveller population with @DISEASE$ who presents with @PHENOTYPICFEATURE$ or cardiomyopathy.	has_symptom
+09eb2c11da04b5fd2824f34e3051736ded207e5e	It is important to consider a diagnosis of Friedreich @PHENOTYPICFEATURE$ in a child from the Irish Traveller population with @DISEASE$ who presents with ataxia or cardiomyopathy.	has_symptom
+86f3f5f02d738af1fd3125f2355ae3747d6cfcfd	Here, we report the coexistence of classical @DISEASE$ and Friedreich @PHENOTYPICFEATURE$ (FRDA) in nine children from seven Irish Traveller families.	has_symptom
+988f3777d16aeb957a34097d412c410beb951382	Among children with @DISEASE$, children with more speech errors and classified as childhood apraxia of speech (n = 7) and @PHENOTYPICFEATURE$ dysarthria (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors.	has_symptom
+a49af2ecc6e4e7b616f8c3ce3f4a99ef85b14c4c	Among children with galactosemia, children with more speech errors and classified as childhood apraxia of speech (n = 7) and @DISEASE$ @PHENOTYPICFEATURE$ (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors.	false
+bd08ebd7bb3456ee3b553049e9d4175d3b14c9ff	Among children with @DISEASE$, children with more speech errors and classified as childhood apraxia of speech (n = 7) and ataxic @PHENOTYPICFEATURE$ (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors.	false
+617d34324c0f90255259ff9659d7493930daef78	Ovarian insufficiency can occur by three mechanisms: reduction in the primary follicles reserve (@PHENOTYPICFEATURE$-telangiectasy), follicular maturation blocking (modification of the genes GDF-9 and GDF-9B, null mutation of FSH receptor gene, auto-immune polyglandular disease, PBE syndrome), or apoptosis acceleration (chemotherapy, smoking, @DISEASE$, Turner's syndrome).	has_symptom
+2cfce3757e826972ed54cc9474263cfc553254e6	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, @PHENOTYPICFEATURE$ and hydrocephalus).	has_symptom
+677fb135d60f3b4445d90ccdec97ed8b358c62d3	SPG1 presents with CRASH syndrome (corpus callosum hypoplasia, retardation, adducted thumbs, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+3229e0938e0775ecd9be91acef2f77048c2e2608	SPG1 presents with @DISEASE$ (corpus callosum hypoplasia, retardation, adducted thumbs, spasticity and @PHENOTYPICFEATURE$).	false
+432775092fadfd5d6fa03692b456a7ab5dcdc940	Mutations in the human gene result in a broad spectrum of phenotypes (the @DISEASE$) that include devastating neurological disorders such as @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+b8dae83b78a77a127fc54117bde2f512331d9713	Mutations in the human gene result in a broad spectrum of phenotypes (the CRASH-syndrome) that include devastating neurological disorders such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e3ed66abfcfbf035fe03b4dff2634b7127118989	Mutations in the human gene result in a broad spectrum of phenotypes (the CRASH-syndrome) that include devastating @DISEASE$ such as spasticity and @PHENOTYPICFEATURE$.	false
+828fafb520ce413b77f12889ae4a866546b5bbef	Mutations in the human gene result in a broad spectrum of phenotypes (the @DISEASE$) that include devastating neurological disorders such as spasticity and @PHENOTYPICFEATURE$.	false
+5ea7b44e5be455b0318a64019508d2c64fc77f9a	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of @PHENOTYPICFEATURE$, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	has_symptom
+1c44f5ca5552d1d0933606e37a1c67a05be0d340	The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of @DISEASE$, multiple skeletal and radiological abnormalities, mid-@PHENOTYPICFEATURE$ with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+642a647f87603a8ab1152634c21c5fe305fb7b05	The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of @DISEASE$, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and @PHENOTYPICFEATURE$.	false
+6696ed6a312844bf2892de3004ca8314f9179e26	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a @PHENOTYPICFEATURE$ with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+cbf86b3642aa3677059126170b1ada11565ebb6d	The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a @PHENOTYPICFEATURE$ with the hallmark findings of @DISEASE$, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+c08ce139afb3e97e66e8480fda952a574856a226	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-@PHENOTYPICFEATURE$ with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+86c370bf81904c1a1103644a35d7fee7b8e6896f	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and @PHENOTYPICFEATURE$.	false
+b47fa3d42da4092ded334d824526fc563ddd20b8	Age-related Macular Degeneration and @DISEASE$ cause @PHENOTYPICFEATURE$ via outer retinal degeneration.	has_symptom
+bda842f2bb74f1ed99eb330b0ae53012037c9859	Age-related Macular Degeneration and Retinitis Pigmentosa cause @DISEASE$ via outer @PHENOTYPICFEATURE$.	false
+82649ee6d536b534757792a0b6f1253fa4d65672	Age-related Macular Degeneration and @DISEASE$ cause blindness via outer @PHENOTYPICFEATURE$.	false
+b20de937828a669898c12f05a46763eb052d105e	@DISEASE$ is a leading cause of @PHENOTYPICFEATURE$ and a progressive retinal disorder, affecting millions of people worldwide.	has_symptom
+bb5a10d2e4717cc290a8e195b188cb8e475b8fca	@DISEASE$ is a major cause of visual impairment and @PHENOTYPICFEATURE$, affecting millions of people worldwide.	has_symptom
+d612ae541080ba3999c3cd48ab3df2e8ba5a3204	Retinitis pigmentosa is a major cause of @PHENOTYPICFEATURE$ and @DISEASE$, affecting millions of people worldwide.	false
+93796daa5312e0dcc2336296b6279361c5316c27	@DISEASE$ is a major cause of @PHENOTYPICFEATURE$ and blindness, affecting millions of people worldwide.	false
+49d8c464d976f3bb167d5b7e1b04a343ce1ef721	@DISEASE$ (RP) is a leading cause of @PHENOTYPICFEATURE$ and visual disability in younger people.	has_symptom
+714394d2ca2c8e2e44abecc345264fe4b07518fa	@DISEASE$ (RP) is a leading cause of blindness and visual @PHENOTYPICFEATURE$ in younger people.	false
+dc289d175b4d3bcb6b51ddaba71a7c7718ddb862	Retinitis pigmentosa (RP) is a leading cause of @DISEASE$ and visual @PHENOTYPICFEATURE$ in younger people.	false
+1cb604afd8955fab84f0f50cae20247a96403e17	@PHENOTYPICFEATURE$ and visual impairment in @DISEASE$: a Cameroonian hospital-based study.	has_symptom
+28e116adf0ef3e51556649465bb3433679ada9ab	Blindness and @PHENOTYPICFEATURE$ in @DISEASE$: a Cameroonian hospital-based study.	false
+342a678e70d2eea86ef6d3dc49167f53ef10a0f0	@DISEASE$ and @PHENOTYPICFEATURE$ in retinitis pigmentosa: a Cameroonian hospital-based study.	false
+defdc6aacfcda7bf630a27715989f4cac78b9441	@DISEASE$ leads to progressive visual loss and @PHENOTYPICFEATURE$.	has_symptom
+7491d4b3248f1d3cfef34845abef38a61ba5e212	@DISEASE$ is a progressive retinal dystrophy that causes irreversible visual impairment and @PHENOTYPICFEATURE$.	has_symptom
+b0eba2dfda6fcafc0a554f11cc69eeda5cd96cdf	Retinitis pigmentosa is a progressive @DISEASE$ that causes irreversible @PHENOTYPICFEATURE$ and blindness.	false
+7f482b66dea42e095a157b186a5287a0c5f76be4	@DISEASE$ is a progressive retinal dystrophy that causes irreversible @PHENOTYPICFEATURE$ and blindness.	false
+1e9a24b8b08f35d48673126e29f35991819b7ea7	Retinitis pigmentosa is a progressive retinal dystrophy that causes irreversible @PHENOTYPICFEATURE$ and @DISEASE$.	false
+59e2c3ce1064265774fc83f362aa229f17216440	@DISEASE$, causing progressive @PHENOTYPICFEATURE$, is genetically heterogeneous.	has_symptom
+22f4b9d58f74ea2f3a713c6706244aa91813c44a	@DISEASE$ is an inherited progressive disease which is a major cause of @PHENOTYPICFEATURE$ in western communities.	has_symptom
+d5b0a757fa56c1d7bd4c6d42a8b0a9fb41b2b879	@DISEASE$ (RP), the major cause of @PHENOTYPICFEATURE$ in adults, is an extremely heterogeneous monogenic disorder.	has_symptom
+91700b095e9d62a515197be1db0f87d811d76bd1	Cardiac tachyarrhythmias in @DISEASE$ presenting as a @PHENOTYPICFEATURE$ disorder.	has_symptom
+f7aa67aadd371729ae1108fb378897892a42da5a	Cardiogenic @PHENOTYPICFEATURE$ are common and could be the sentinel event heralding the presence of @DISEASE$ (LQTS).	has_symptom
+e4dae2d6dc9bc8a697b03b988de3335502d8449a	@DISEASE$ (LQTS) can present as syncope or @PHENOTYPICFEATURE$, secondary to polymorphic ventricular tachycardia, mimicking a primary seizure disorder.	has_symptom
+374e3bd0260ea03f9b10f5c89603f8ce1a610a0c	We present a 11 year old boy with the @DISEASE$ who had recurrent "@PHENOTYPICFEATURE$" for five years which had been treated as epilepsy.	has_symptom
+b2fb976e40ef89bab7cb25856230ba5664740e5f	The case of a 26-year-old woman with @DISEASE$ and recurrent arrhythmic syncope which had been misdiagnosed as a @PHENOTYPICFEATURE$ disorder is presented.	has_symptom
+87a65a6659229dcecd98144922723f9c8c02fe20	@DISEASE$ (LQTS) affects an estimated 1 in 2500 people and typically presents with syncope, @PHENOTYPICFEATURE$ or sudden death.	has_symptom
+c3f18456494bf6d4fdd484524376ead3509dee83	@DISEASE$ (LQTS) are inherited heart diseases that can present as palpitations, syncope (fainting), @PHENOTYPICFEATURE$, cardiac arrest, and sudden death.	has_symptom
+fc6f2ec70c26a7b8a5684d8da030e0e9782d24e7	@DISEASE$ (LQTS) is a familial arrhythmogenic cardiac channelopathy characterized by prolonged ventricular repolarization and increased risk of torsades de pointes-mediated syncope, @PHENOTYPICFEATURE$, and sudden cardiac death (SCD).	has_symptom
+bce4dd9cb2fdae439c7e0b2fc1a26a98cb28dc6a	@DISEASE$ (LQTS) is a heritable cardiac disease whereby patients are at an increased risk for LQTS-triggered syncope, @PHENOTYPICFEATURE$, and sudden cardiac arrest.	has_symptom
+0b3de7ca1b1d975816e3a0277bc2151ff1cc7e22	Useful criteria for discriminating between loss of consciousness due to @DISEASE$ and loss of consciousness caused by @PHENOTYPICFEATURE$ activity are discussed.	has_symptom
+1c0562232cd29d72d75a1a97b3eafa6a48779ead	Inactivating mutations in Gs?-coding GNAS exons are responsible for @DISEASE$ (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, brachydactyly, @PHENOTYPICFEATURE$, and heterotopic ossification.	has_symptom
+310837649cb064972229ff7979691f3ee047976d	Inactivating mutations in Gs?-coding GNAS exons are responsible for @DISEASE$ (AHO), which refers to a constellation of physical and developmental disorders including @PHENOTYPICFEATURE$, short stature, brachydactyly, cognitive impairment, and heterotopic ossification.	false
+1c00f7146cf5224af8267958ed12509a30c33f27	Inactivating mutations in Gs?-coding GNAS exons are responsible for @DISEASE$ (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, @PHENOTYPICFEATURE$, cognitive impairment, and heterotopic ossification.	false
+bb8c8f1af98d4b3378b239d455837585d0be7c2d	Inactivating mutations in Gs?-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental @DISEASE$ including obesity, short stature, @PHENOTYPICFEATURE$, cognitive impairment, and heterotopic ossification.	false
+1f98634f3bd3d24e683afb91e1194017707d6fb7	Inactivating mutations in Gs?-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including @PHENOTYPICFEATURE$, short stature, brachydactyly, @DISEASE$, and heterotopic ossification.	false
+dfd3637aaf304deac3fdbef575c4cb136d3ce3f4	Inactivating mutations in Gs?-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, @PHENOTYPICFEATURE$, brachydactyly, @DISEASE$, and heterotopic ossification.	false
+3c976a5b5d008249190966953aef0dbbc0f58e19	Inactivating mutations in Gs?-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental @DISEASE$ including @PHENOTYPICFEATURE$, short stature, brachydactyly, cognitive impairment, and heterotopic ossification.	false
+ac24a3578473addf45d420007c5f427b80ed7f45	Inactivating mutations in Gs?-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and heterotopic ossification.	false
+3c02e3eaa4ecaa4eb977e1ccca8738e52c9b8235	Inactivating mutations in Gs?-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental @DISEASE$ including obesity, @PHENOTYPICFEATURE$, brachydactyly, cognitive impairment, and heterotopic ossification.	false
+4abb1dc79a50f3eefa0ef809275edb42eb858fb5	Inactivating mutations in Gs?-coding GNAS exons are responsible for @DISEASE$ (AHO), which refers to a constellation of physical and developmental disorders including obesity, @PHENOTYPICFEATURE$, brachydactyly, cognitive impairment, and heterotopic ossification.	false
+5ddda3e41ef26ad49782d8f5b0af7890b35431f4	Jeune's asphyxiating thoracic dystrophy (@DISEASE$) is an autosomal recessive disorder with symptoms of retinal degeneration, @PHENOTYPICFEATURE$, and chondrodysplasia and results from mutations in the ift80 gene.	has_symptom
+356e95148bea567e3ff1e43832c15162135a5092	We also reviewed available clinical data on five published patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a3c19dc172e775030057384010cf76ca68c37e78	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with blindness and @PHENOTYPICFEATURE$.	has_symptom
+e708d1150963a86639d1b7ca7e49e72f16ba28c7	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+508fe73b61d4f603b7071024d574c190db516a9e	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+d9c4ad73c32918df32f4f3684885943eabcf39b6	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+0ec7515d1df5894b97f1da8feb3ee12f0abee4ee	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+17e303cb0b5a0d9e477420865acee33e76c0f44b	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+abf21d8d62777f9406ddeb1bfa0d6f4f848c772f	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+9bfaf572fc70b56f82cd13c2aa093d459faf038b	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and @DISEASE$.	false
+caaf3c03de819e53eb0a3ebf59b98572f420d483	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and @PHENOTYPICFEATURE$ with blindness and deafness.	false
+dfc3bd354d922d7e88791299fd728d0e3d1bd3d3	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+e9c7c1dfc3681862abb5cc0c51af2026fae2ec23	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+41ceb739497598e95d5e80cce10ce559c6244c18	We report on two Dutch sibs with external anomalies compatible with @DISEASE$, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and @PHENOTYPICFEATURE$ in the other patient.	has_symptom
+53c6bcd51850509f9b549cd3db0f3313a82ee7cd	@PHENOTYPICFEATURE$ and brachydactyly mimicking @DISEASE$ in an adult patient with lingual thyroid and prolactinoma-like lesion.	has_symptom
+22f203745d51f348120ac5d57595dfc1d4ef9425	Intracranial calcification and @PHENOTYPICFEATURE$ mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and @DISEASE$-like lesion.	false
+6caf12cb22a1a54537f60bf3bfba44646ad28a34	@DISEASE$ and @PHENOTYPICFEATURE$ mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion.	false
+dfd753891a3575d9fca8663171f7d3ac9fbfb1de	Intracranial calcification and @PHENOTYPICFEATURE$ mimicking @DISEASE$ in an adult patient with lingual thyroid and prolactinoma-like lesion.	false
+ab20ce1f06e1505abbba7a334b7890518dc76894	Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and @PHENOTYPICFEATURE$ (MIM 218000) and French-Canadian-type @DISEASE$ (MIM 220111).	has_symptom
+4d7375ea317291de7f89c4a6694dbf75a73b3f5d	Some were discovered in French Canadians, such as autosomal recessive @PHENOTYPICFEATURE$ of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and peripheral neuropathy (MIM 218000) and French-Canadian-type @DISEASE$ (MIM 220111).	false
+7313a4cf40ed1adcad62416142124f0bba922eda	Some were discovered in French Canadians, such as autosomal recessive @PHENOTYPICFEATURE$ of the Charlevoix-Saguenay (MIM 270550), agenesis of corpus callosum and @DISEASE$ (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111).	false
+3b1962fa2a1cff4bcb147bcf165a1145b3a68f72	Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), @PHENOTYPICFEATURE$ and @DISEASE$ (MIM 218000) and French-Canadian-type Leigh syndrome (MIM 220111).	false
+c64c711305865f44bf5bac5e998e5e8b1b8ca2ea	Some were discovered in French Canadians, such as autosomal recessive ataxia of the Charlevoix-Saguenay (MIM 270550), @PHENOTYPICFEATURE$ and peripheral neuropathy (MIM 218000) and French-Canadian-type @DISEASE$ (MIM 220111).	false
+ea21adce3010d84df8358f5169baa9e74db36b96	A novel SURF1 mutation results in @DISEASE$ with @PHENOTYPICFEATURE$ caused by cytochrome c oxidase deficiency.	has_symptom
+7cb2009e8e4028585f4a9630f1ea0c8c5823416c	Sural nerves were examined in 3 childhood cases of @DISEASE$ (from 2 families), each with electrophysiological documentation of @PHENOTYPICFEATURE$.	has_symptom
+6a0c7c00b7e1860ebd1b6473230c488f4eb3c564	We report on a 5-year-old boy with clinical and neuroradiological evidence of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d5567edde063af2ad853eb392a25b14afd892b73	A novel mutation in the SURF1 gene in a child with @DISEASE$, @PHENOTYPICFEATURE$, and cytochrome-c oxidase deficiency.	has_symptom
+7529e57feb6ea5613c338ce67b0994eade5e2cb4	We show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or @PHENOTYPICFEATURE$, ataxia, or @DISEASE$.	has_symptom
+6abc0f4b070a9e40cd7c8b4ab1418c81cb8852cc	We show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or @DISEASE$, @PHENOTYPICFEATURE$, or Leigh disease.	false
+973a0dff0572fd81fcd7e32023651381f33d39a3	We show that in addition to early-onset @DISEASE$, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, @PHENOTYPICFEATURE$, or Leigh disease.	false
+77f7142747ba8becf6d4518a45a19c44680da8a0	We show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+fe1ecf934623306b91920bce94a6dedd3a8f4c2a	Adult-onset @DISEASE$ with central fever and @PHENOTYPICFEATURE$ due to mitochondrial 9176T>C mutation.	has_symptom
+16213c94694db9c0076e83d88b3840928af187fe	Congenital @DISEASE$: panencephalomyelopathy and @PHENOTYPICFEATURE$.	has_symptom
+a6ae6e1414980f425171d251e3b35ba28eee8ad0	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and @PHENOTYPICFEATURE$ or with @DISEASE$.	has_symptom
+604d5d402a19915ed1bca9be5e29ab92ccea6da1	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with @PHENOTYPICFEATURE$, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	false
+b6d6c1b597f4c69848a31ff3dabfcc7a24d04aa9	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial @PHENOTYPICFEATURE$, and peripheral neuropathy or with @DISEASE$.	false
+866f543d2718b385a130e71fc702de3953363eae	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @PHENOTYPICFEATURE$, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	false
+1ca8afd18e5b4ed622cc52e93389a104efea68b3	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with @PHENOTYPICFEATURE$, partial sensorineural deafness, and @DISEASE$ or with Leigh syndrome.	false
+9f3a8168e510e1702a6e24548bc8c7759bb51716	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial @PHENOTYPICFEATURE$, and @DISEASE$ or with Leigh syndrome.	false
+c868a83ff5b9b4b3923e5f8a960bc41709f32f56	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with @PHENOTYPICFEATURE$, growth hormone deficiency with short stature, partial sensorineural deafness, and @DISEASE$ or with Leigh syndrome.	false
+f04079fadb144af50795d066607910efa68c512a	A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with @DISEASE$ with predominant ataxia and @PHENOTYPICFEATURE$.	has_symptom
+039e02a316e793ac3c10d0e9fa37eb73f440ca52	A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with @DISEASE$ with predominant @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+24809363a09458d24dedb2e40a6f8e6e2c6c9a09	A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5c48d41804efe4a6375b43b8dadca1878b696f5a	In this study, multiscale entropy (MSE) and refined MSE (RMSE) were applied to track the complexity of HRV as a function of time scale in three pathological conscious animal models: rats with @PHENOTYPICFEATURE$ (HF), spontaneously hypertensive rats (SHR), and rats with sinoaortic denervation (@DISEASE$).	has_symptom
+188e64049b4edc7d0fcf611115c8eae59952f667	The 4-year cumulative incidence of @DISEASE$ was lowest in those with an LVEF of more than 60% (1.0%) and highest among those with LVEF of 30% to 40% (4.9%) and class III/IV @PHENOTYPICFEATURE$ (5.1%); however, the cumulative incidence of non-SAD was similarly elevated in these latter high-risk subgroups.	has_symptom
+9b692fc4d63bee226aca2c6999d44b1209826ca1	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, malformations, chromosome breakage, and development of T-cell leukemia (Opitz et al.: Proceedings of the II International Congress IASSMD pp 115-119, 1971; Hess et al.: Clinical Genetics 6:237-246, 1974b, American Journal of Medical Genetics [supplement] 3:383-388, 1987).	has_symptom
+696bc5a45c2a268f30f1f8ba7469a85826d2c28a	Further studies on a family with the @DISEASE$, a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome first described by Hess et al in 1974, showed increased chromosome breakage in the affected brothers and in their unaffected mother, all 3 of whom died of lymphoid malignancy.	has_symptom
+76d39f49193d1961beded64be52024c8877866e1	The @DISEASE$, a "new" multiple congenital anomaly-@PHENOTYPICFEATURE$ syndrome.	has_symptom
+734573ac6c250ccd2342f94fe5e36f6bfffd0410	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and @PHENOTYPICFEATURE$.	has_symptom
+f8c327e905c2f25ac428e8d8ad8fcc98cb0b9454	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by @PHENOTYPICFEATURE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability.	false
+5a0bd1d0ac171b9fa639af31866105b604f726a5	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @PHENOTYPICFEATURE$ and intellectual disability.	false
+162cf2c19072cd6396eb41c6a6dba7d78c83a0af	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by @PHENOTYPICFEATURE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and @DISEASE$.	false
+67dab7797af99f4d21d037cd55cf115cefca8b05	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8df151449c7ff5f189c2b9235af19320e5cfef4a	Our findings lend further support to @PHENOTYPICFEATURE$, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of @DISEASE$.	has_symptom
+282a6623e1f7b783ce694755d512ef32a1bf47bb	De novo loss of function (LOF) mutations in the ASXL3 gene cause @DISEASE$, a severe form of @PHENOTYPICFEATURE$ (ID) and developmental delay, but there is evidence that they also occur in healthy individuals.	has_symptom
+1380cbd7b1a16e3c5b3753db78ed3c55f82f9c27	It has been established that @DISEASE$, a dominantly inherited form of @PHENOTYPICFEATURE$, is caused by mutations in the tissue inhibitor of metalloproteinase-3 (TIMP-3) gene.	has_symptom
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+bdeca9486da9d812c96b9ce3ff59967de5051eca	The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the @PHENOTYPICFEATURE$ in @DISEASE$ syndrome is increasingly being reported.	has_symptom
+7e07397f074cca355c1e4442303f6bb3f10340d1	The majority of described individuals have @PHENOTYPICFEATURE$ due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF @DISEASE$ is increasingly being reported.	false
+7412e2a2496973877f1e84a575016ca8500c32f9	The majority of described individuals have @PHENOTYPICFEATURE$ due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the @DISEASE$ in BOF syndrome is increasingly being reported.	false
+ac71ee62c62a1c4c21be37ab5c598a8b921252e9	The majority of described individuals have @PHENOTYPICFEATURE$ due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in @DISEASE$ syndrome is increasingly being reported.	false
+2f0b0f87122804ba76d9604a30b147742abac86f	It has been suggested that branchio-oculo-facial (@DISEASE$) syndrome, @PHENOTYPICFEATURE$ with ear pits, and associated conditions [MIM nos.	has_symptom
+a20514cae1f3585735c145f0f351bdb609417ae0	@PHENOTYPICFEATURE$ is common in individuals with branchio-oculo-facial (@DISEASE$) syndrome.	has_symptom
+7988df5b0265e901a6705a268802dea73fa57073	We describe two female infants with @DISEASE$ (mucopolysaccharidosis I) whose deaths are attributed to @PHENOTYPICFEATURE$ with associated, autopsy-confirmed endocardial fibroelastosis.	has_symptom
+ecdfc017500d95fe2b0318aa93c3c46876710004	@PHENOTYPICFEATURE$ may precede recognition of clinical and roentgenographic features of @DISEASE$.	has_symptom
+752909747aef57b349057612d6a4b903d274b76d	@DISEASE$ (ADLD) is a progressive and fatal neurological disorder characterized by early @PHENOTYPICFEATURE$, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	has_symptom
+b04062f64397a48d03ad7d91aebf6d3b88f20aee	Adult-onset autosomal-dominant leukodystrophy (@DISEASE$) is a progressive and fatal neurological disorder characterized by early @PHENOTYPICFEATURE$, cognitive impairment, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	has_symptom
+b29119fe523c4e5cd31025d28c45292db51990a3	Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurological disorder characterized by early @DISEASE$, @PHENOTYPICFEATURE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+df9f29a5281f2e44ef1c0ef9d464b49dbd36131b	Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal @DISEASE$ characterized by early autonomic dysfunction, @PHENOTYPICFEATURE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+b1c75ff5820b564aca28a4742c22eb4d7a8941f4	Adult-onset autosomal-dominant leukodystrophy (@DISEASE$) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, @PHENOTYPICFEATURE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+b047d012241f02a107b9e19e504d5f0beb4020b3	@DISEASE$ (ADLD) is a progressive and fatal neurological disorder characterized by early autonomic dysfunction, @PHENOTYPICFEATURE$, pyramidal tract and cerebellar dysfunction, and white matter loss in the central nervous system.	false
+1666f2843325636a3685d187e360f9317c79f6fd	In a single patient with @PHENOTYPICFEATURE$, whole-exome sequencing revealed MAN1B1 as @DISEASE$ candidate gene.	has_symptom
+891e90ecb0b14c4b71afbf26b86518e3dd871e82	@DISEASE$ (RTS) is a rare developmental disorder comprising of mental retardation, @PHENOTYPICFEATURE$, broad thumbs, and big toes.	has_symptom
+9bae212ca3b812d4950728bca1697656a3151117	@DISEASE$ (RTS) is a rare developmental disorder comprising of @PHENOTYPICFEATURE$, unusual facial appearance, broad thumbs, and big toes.	false
+fa7afb4329332b597e0333031fb82f94a1e1b81f	Rubinstein-Taybi syndrome (@DISEASE$) is a rare developmental disorder comprising of @PHENOTYPICFEATURE$, unusual facial appearance, broad thumbs, and big toes.	false
+25d9c7d096db141c1cc9f740fc73113aa3b28b4f	Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder comprising of @PHENOTYPICFEATURE$, @DISEASE$, broad thumbs, and big toes.	false
+421f1652b5da71b12f2b5a00c6b866b408dbeab6	@DISEASE$ (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, mental retardation, and short stature.	has_symptom
+52674d81f9ef1c8adab30fa9ca9feda7564cf322	@DISEASE$ (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and @PHENOTYPICFEATURE$.	false
+bbdcd21e2c0df57017b2529835192759be62744d	Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+cfaaa96e31d3d11c7b1536be121f41794547f0e4	Rubinstein-Taybi syndrome (@DISEASE$) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and @PHENOTYPICFEATURE$.	false
+b38757220aa3ac1ba97e4977c2a8215dbc892ba6	@DISEASE$ (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, @PHENOTYPICFEATURE$, and short stature.	false
+54286f8f3c8526c89300908f9785c8ec3c69acf0	Rubinstein-Taybi syndrome (@DISEASE$) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, @PHENOTYPICFEATURE$, and short stature.	false
+1e8acb3c5e1f5392869879fde71c455e1f218459	Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, @DISEASE$, @PHENOTYPICFEATURE$, and short stature.	false
+c9949346fc5b634dbb162c4b45a95336bfaf0cba	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	has_symptom
+c121ef5b1f55864e261202b6bd1696497016bee6	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by @PHENOTYPICFEATURE$, growth retardation, and mental deficiency.	has_symptom
+2ae0cf5d29c90f052559c0e57fa4716ae88d49ca	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	false
+65ff1022b2dcaabd952dd375e777b85d33a35793	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a @DISEASE$ characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	false
+855aeb81fa8daaa96e667b74bdc58977360b6167	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @DISEASE$, growth retardation, and @PHENOTYPICFEATURE$.	false
+1a2f1d7ed1cde43b332a7d5d19e68d7e8aa087fd	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, and mental deficiency.	false
+a2d79ff22a82279fdf4fa4b0278761a3928271b8	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	false
+a9532836ef47abbd8fdd3fbe38cb74afed2c083a	@DISEASE$ or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	false
+939d299915d40ca702c6c03e76af500905e3b730	Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a @DISEASE$ characterized by facial dysmorphism, @PHENOTYPICFEATURE$, and mental deficiency.	false
+dfec3e7f2c1c504b14536495092c7adb76ee8a38	Rubinstein-Taybi syndrome or @DISEASE$ is a genetic disorder characterized by facial dysmorphism, growth retardation, and @PHENOTYPICFEATURE$.	false
+6658257c0164133e13edec374959f31ddacf182f	@DISEASE$ (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by @PHENOTYPICFEATURE$, broad thumbs and halluces associated with intellectual disability.	has_symptom
+e92f5b10bef2b8e501347175de8f6db6ba907786	@DISEASE$ (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with @PHENOTYPICFEATURE$.	false
+c6e47fad95cf7d62b3616f6962e9f60c9fb05755	Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by @DISEASE$, broad thumbs and halluces associated with @PHENOTYPICFEATURE$.	false
+613f55bb4682116e3fb78edf076f559a204a7e09	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, @PHENOTYPICFEATURE$, small stature, and mental retardation.	has_symptom
+2c2311128be5d0b570cb1310c8e7f8a4213e2581	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	false
+a7330037578610d87da5c079a7773743bac14105	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, @PHENOTYPICFEATURE$, @DISEASE$, small stature, and mental retardation.	false
+794305baa0d1add3ed7e0da3d76da9faebfae1d1	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and @PHENOTYPICFEATURE$.	false
+d479a148f6020466a12e671595668ab9b2d2dad7	The @DISEASE$ is characterized by a pattern of malformations including broad thumbs and big toes, @PHENOTYPICFEATURE$, facial dysmorphism, small stature, and mental retardation.	false
+0c72a4f824fbba371d37619e1c50e077c6ecc57b	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, @DISEASE$, small stature, and @PHENOTYPICFEATURE$.	false
+83024d84de4ef0abdd3575a7d3e03bbac5c27498	The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+61a0cea7472ccc32504774fcff4936ed29e8ab17	@DISEASE$ (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, @PHENOTYPICFEATURE$, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature.	has_symptom
+824c45070655f2f1082ecaf6ffe6cab21d3474db	@DISEASE$ (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and @PHENOTYPICFEATURE$.	false
+9d30264333302b230b2fa4d8a6fa5529712c2dc0	Rubinstein-Taybi syndrome (@DISEASE$) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and @PHENOTYPICFEATURE$.	false
+b3733ab1cc10bc0162043e90f1c97f220e7c8fa4	Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, @DISEASE$, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and @PHENOTYPICFEATURE$.	false
+ea489298b441498150d3292ebf2f61e37fb7ea81	@DISEASE$ or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by @PHENOTYPICFEATURE$, growth retardation and mental deficiency.	has_symptom
+dfab460065510ffdc83a1b070e290d116a5a1a54	Rubinstein Taybi syndrome or Broad Thumb and Hallux @DISEASE$ is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and @PHENOTYPICFEATURE$.	false
+39d7c743f4dc0f53708c7dacca1cef2a9533be47	Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by @DISEASE$, growth retardation and @PHENOTYPICFEATURE$.	false
+a2cab64383c074fa6f75a3400c48b2b2f5d2e753	Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic @DISEASE$ characterized by facial dysmorphism, @PHENOTYPICFEATURE$ and mental deficiency.	false
+fe8881eb909aaeca3ed3224f5c4656a2047b8707	Rubinstein Taybi syndrome or Broad Thumb and Hallux @DISEASE$ is a genetic multisystem disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$ and mental deficiency.	false
+cf9fad56c1b7fc6e549ec98cce04cd544ba91e98	@DISEASE$ or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, @PHENOTYPICFEATURE$ and mental deficiency.	false
+61d3190f4f2a181bca53f0e8b56bd9e40fa31eaf	Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ and mental deficiency.	false
+b947cd60ed954a2fcc158ddd41503d5b7ab2b87e	@DISEASE$ or Broad Thumb and Hallux syndrome is a genetic multisystem disorder characterized by facial dysmorphism, growth retardation and @PHENOTYPICFEATURE$.	false
+8cd89c0ebfca7c2e084f6257ab2eb1e28fa934e5	Rubinstein Taybi syndrome or Broad Thumb and Hallux syndrome is a genetic @DISEASE$ characterized by facial dysmorphism, growth retardation and @PHENOTYPICFEATURE$.	false
+974076b2a64ea9cdf2e5d629853ecfb6d5688c8a	@DISEASE$ (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, short stature and variable degree of intellectual disability.	has_symptom
+cd02a12c7ea8e637bcf30dc60273e18c94d88083	@DISEASE$ (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, @PHENOTYPICFEATURE$ and variable degree of intellectual disability.	false
+4acf6bca3fcff06374e5964079aa5e4e0308680f	Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, @DISEASE$, @PHENOTYPICFEATURE$ and variable degree of intellectual disability.	false
+76fadbd6af26b19bd1e2ce4b2e9e80e819299421	Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant @DISEASE$ characterized by broad thumbs and halluces, facial dysmorphism, @PHENOTYPICFEATURE$ and variable degree of intellectual disability.	false
+9867e1d090ea77dc7ee5bddaa66d9788101529af	@DISEASE$ (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, short stature, and intellectual disability.	has_symptom
+24531ed9a88f60b6ee5cd1ed4a52beb3f68873c0	Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, @DISEASE$, @PHENOTYPICFEATURE$, and intellectual disability.	false
+39e7f2e9d93df10cded970c86884e9034891acb2	@DISEASE$ (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, @PHENOTYPICFEATURE$, and intellectual disability.	false
+5c96bf9968d6df387d5b2609afaf32d9ebfdfde8	@DISEASE$ (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and @PHENOTYPICFEATURE$.	false
+d0b2bc420b7002f7f932e7270527a89335452aff	Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, @DISEASE$, short stature, and @PHENOTYPICFEATURE$.	false
+3ab41b7247deb385333332dc6eb8ae5e5fd6a7ef	@DISEASE$ (RSTS) is a rare autosomal dominant disorder characterised by @PHENOTYPICFEATURE$, growth and psychomotor development delay, and skeletal defects.	has_symptom
+de62fa278eaade523908ca3dc88cca87da2bd778	[Dyspnea, oliguria and lower extremities @PHENOTYPICFEATURE$ in a patient undergoing mediastinic radiotherapy for a non-resectable @DISEASE$].	has_symptom
+7f4943caca9691998b99540779471041147f7841	Individuals with the @DISEASE$ have a high risk for developing Wilms tumor and late-onset @PHENOTYPICFEATURE$, and should be monitored for these complications.	has_symptom
+441c0eb2c619e59f717cf27bde305839763263c6	The presence of small glomeruli in patients with @DISEASE$, as in those with DDS, suggests a specific defect of WT1 function in development and a specific role of WT1 allele loss in the development of @PHENOTYPICFEATURE$ in these patients.	has_symptom
+1e25ef797a498d5c196a7f23530b513ba2da0d9f	Patients with the @DISEASE$ have an increased frequency of @PHENOTYPICFEATURE$, especially absence-type seizures, in the absence of hypoglycemia.	has_symptom
+36adf810d3c92e5b8be5edc26293929d9e1d9833	Patients with the HI/HA syndrome have an increased frequency of generalized seizures, especially absence-type @PHENOTYPICFEATURE$, in the absence of @DISEASE$.	false
+811b3c4e338fd74b620475883037bd6660c7d525	Patients with the @DISEASE$ have an increased frequency of generalized seizures, especially absence-type @PHENOTYPICFEATURE$, in the absence of hypoglycemia.	false
+cef5afe00406a78a8b117ac76190556e9f842b04	Patients with the HI/HA syndrome have an increased frequency of @DISEASE$, especially absence-type @PHENOTYPICFEATURE$, in the absence of hypoglycemia.	false
+5f4b928390924a1420df44096acced5855d053dc	@DISEASE$ (WS) is an auditory?pigmentary disorder with varying combinations of sensorineural hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+37cbc73424ff5d23802e1f950995a59a61a91dc6	Waardenburg syndrome (WS) is an auditory?pigmentary disorder with varying combinations of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+67127e99230e0c9e10d7c062aa8b27a96d14f764	@DISEASE$ (WS) is an auditory?pigmentary disorder with varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation.	false
+5b14d105cb8536e4bf026ae4d410c91bde36ea2c	Till date, mutations in the genes PAX3 and MITF have been described in @DISEASE$ (WS), which is clinically characterised by congenital hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+3414ab8a3c2d81ade267fd549011b67870c5a06d	Till date, mutations in the genes PAX3 and MITF have been described in @DISEASE$ (WS), which is clinically characterised by @PHENOTYPICFEATURE$ and pigmentation anomalies.	false
+709952d1502236b0337742b9b1d6f0b3905b11a1	Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6e234f44dae7e30abbdf8a17e1b640c0f25dee48	@DISEASE$ (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and @PHENOTYPICFEATURE$ of the hair and skin.	has_symptom
+651f4e312f3d3f941b6c4a007d343d2164910270	Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of @PHENOTYPICFEATURE$ and @DISEASE$ of the hair and skin.	false
+20945c23b204dcae4d2ebeee33c51816f093bd88	Waardenburg syndrome (WS) is an auditory-@DISEASE$ disorder that exhibits varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair and skin.	false
+b3a2e036d2ff2d2ae67f1d61cdc53d602e1444d7	@DISEASE$ (WS) is an auditory-pigmentary disorder that exhibits varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair and skin.	false
+63c5f961fd12c3dbffbadd543449eccae66a7a1c	@DISEASE$ (WS) is an auditory-pigmentary disorder resulting from melanocyte defects, with varying combinations of sensorineural hearing loss and @PHENOTYPICFEATURE$ of the hair, skin, and inner ear.	has_symptom
+5597e9b2024831b2522ba0ca4159f502d41db93a	Waardenburg syndrome (WS) is an auditory-@DISEASE$ disorder resulting from melanocyte defects, with varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair, skin, and inner ear.	false
+44b4383a356d45ae09469429752dddd5abc1b3c7	Waardenburg syndrome (WS) is an auditory-pigmentary disorder resulting from melanocyte defects, with varying combinations of @PHENOTYPICFEATURE$ and @DISEASE$ of the hair, skin, and inner ear.	false
+a9235df85c84320730577694c9522ddf8fe4a957	@DISEASE$ (WS) is an auditory-pigmentary disorder resulting from melanocyte defects, with varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair, skin, and inner ear.	false
+bd42d6e9954b4afcb9f7e3129aa77c63fd77fc3a	@DISEASE$ is an inherited disease characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$ and minor facial malformations.	has_symptom
+47892b84ccaf11cb6b975d24f6bbb5e2cc92e005	Waardenburg syndrome is an inherited disease characterized by @PHENOTYPICFEATURE$, pigmentation changes and minor @DISEASE$ malformations.	false
+41018d15bc9db713b593a34854e462efbaabd0a6	Waardenburg syndrome is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, pigmentation changes and minor facial malformations.	false
+f084fb559e68ae1c77c99eafc62c28625aac512b	Waardenburg syndrome is an inherited disease characterized by @PHENOTYPICFEATURE$, @DISEASE$ and minor facial malformations.	false
+5738b658cee711d22297390df23c87b1295ce222	@DISEASE$ is an inherited disease characterized by @PHENOTYPICFEATURE$, pigmentation changes and minor facial malformations.	false
+ba3ccd5b9bbc808ad1d2f4662edf51a9d8b9ac2e	@DISEASE$ (WS) is a genetic disorder characterized by sensorineural hearing loss and @PHENOTYPICFEATURE$.	has_symptom
+478354d0dfcfd19994beb5ebfa8583749decf1c6	@DISEASE$ (WS) is a genetic disorder characterized by @PHENOTYPICFEATURE$ and pigmentation anomalies.	false
+f96acbbee6205e7b4bf0bbb180fe19b89571bb1d	Waardenburg syndrome (WS) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ and pigmentation anomalies.	false
+c85a5fc2090a922dc8760d51f9083bfc35b1f88f	Waardenburg syndrome (WS) is a genetic disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6acd72c35e880a2b077a7e87fda8405484f47a59	@DISEASE$ (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and @PHENOTYPICFEATURE$ of the hair, skin, and inner ear.	has_symptom
+0ddcfc07e889eb9257eb72f4df3e3cc3597419fb	Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of @PHENOTYPICFEATURE$ and @DISEASE$ of the hair, skin, and inner ear.	false
+f74f0e5e5607a9d22e89190eb73e64e6481b5058	Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary @DISEASE$ characterized by varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair, skin, and inner ear.	false
+a52527c16000d50c55b2ac5b9b2108fcd76da3b6	@DISEASE$ (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair, skin, and inner ear.	false
+3ac45fcd6ea1727e59286fe54d122f2677cdcddf	@DISEASE$ (WS) is a rare disease characterized by a sensorineural hearing loss and @PHENOTYPICFEATURE$ of the iris, skin and hair due to mutations in PAX3.	has_symptom
+76d4035a56398dd767fecdfd3be049782f86b6d1	@DISEASE$ (WS) is a rare disease characterized by a @PHENOTYPICFEATURE$ and pigment anomalies of the iris, skin and hair due to mutations in PAX3.	false
+8040651a37c29c3e3914606a4f369cac3eff0c4b	Waardenburg syndrome (WS) is a rare disease characterized by a @PHENOTYPICFEATURE$ and @DISEASE$ of the iris, skin and hair due to mutations in PAX3.	false
+6e234f44dae7e30abbdf8a17e1b640c0f25dee48	@DISEASE$ (WS) is an auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and @PHENOTYPICFEATURE$ of the hair and skin.	has_symptom
+651f4e312f3d3f941b6c4a007d343d2164910270	Waardenburg syndrome (WS) is an auditory-pigmentary disorder that exhibits varying combinations of @PHENOTYPICFEATURE$ and @DISEASE$ of the hair and skin.	false
+20945c23b204dcae4d2ebeee33c51816f093bd88	Waardenburg syndrome (WS) is an auditory-@DISEASE$ disorder that exhibits varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair and skin.	false
+b3a2e036d2ff2d2ae67f1d61cdc53d602e1444d7	@DISEASE$ (WS) is an auditory-pigmentary disorder that exhibits varying combinations of @PHENOTYPICFEATURE$ and abnormal pigmentation of the hair and skin.	false
+9e35a1aed293c3302fd1fbb1c675689a9005e45d	@DISEASE$ (WS) is an autosomal dominant disorder characterised by @PHENOTYPICFEATURE$ of the skin, hairs, eyes and various defects of other neural crest derived tissues.	has_symptom
+0574a1918d1eb71fbcc05d5df5980774cae14797	We coin the acronym @DISEASE$ (Glaucoma, Ectopia, Microspherophakia, Stiff joints, @PHENOTYPICFEATURE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	has_symptom
+354fa5149adc5da2277e1e6eb959f2f4898e974a	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited @DISEASE$.	false
+bebc26b6102cdd553c408d649b800d423802e13e	We coin the acronym GEMSS syndrome (@DISEASE$, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+f2bae434085918f6a33261aed7d9694b413daeda	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, @DISEASE$) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+62c059a8bce2a9416467cf429dc545fc15e2a310	We coin the acronym @DISEASE$ (Glaucoma, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, Short stature) to distinguish this dominant Weill-Marchesani-like syndrome from the classic, recessively inherited syndrome.	false
+7e13852d72a4dc0a18a0f6e7248df94b09903e31	We coin the acronym GEMSS syndrome (Glaucoma, Ectopia, Microspherophakia, @PHENOTYPICFEATURE$, Short stature) to distinguish this dominant Weill-Marchesani-like @DISEASE$ from the classic, recessively inherited syndrome.	false
+db838ce44e4ce2416b1df8ebfe8301057de1dfc8	Familial LCAT deficiency (@DISEASE$) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as proteinuria and @PHENOTYPICFEATURE$.	has_symptom
+a0ba728ed3e460835569624b8abed72882350c48	Familial @DISEASE$ (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @PHENOTYPICFEATURE$, anemia as well as proteinuria and renal failure.	false
+6115c138edb60dc3d03efc31885f0a0ab8655a79	Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @PHENOTYPICFEATURE$, @DISEASE$ as well as proteinuria and renal failure.	false
+9b13b8899a9c6674e6eee7594fca806382a60693	Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @PHENOTYPICFEATURE$, anemia as well as proteinuria and @DISEASE$.	false
+40fd69361d4a293c82fffb3e0fbf0acad54f31ee	Familial LCAT deficiency (@DISEASE$) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @PHENOTYPICFEATURE$, anemia as well as proteinuria and renal failure.	false
+a319e5e4cf54b96989855c9cbfd221ba5da1b676	Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature @PHENOTYPICFEATURE$, anemia as well as @DISEASE$ and renal failure.	false
+bb304d606cd28618fb3cbfe8d7af4d450591b42f	We report here a new case of @DISEASE$ caused by two novel mutations in the LCAT gene in which, for the first time, aggressive therapy with angiotensin II receptor blockers and lipid-lowering drugs showed benefit in blood pressure, lipid abnormalities, proteinuria and also kidney function, probably delaying progression to @PHENOTYPICFEATURE$.	has_symptom
+7d2e533990dddfb8d07afeba4322fe995690e20e	Familial @DISEASE$ with @PHENOTYPICFEATURE$ in two siblings.	has_symptom
+3d1e593e30f4e06f21ebed16d0530245c54000b6	This study was performed to identify the lipoproteins important for the development of @PHENOTYPICFEATURE$ in genetically diagnosed @DISEASE$ in comparison with FED, using high-performance liquid chromatography with a gel filtration column.	has_symptom
+3717010b54080b014a752ce85c8cbe2bebe2560d	Familial LCAT deficiency (@DISEASE$) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	has_symptom
+f4ceb18dd87d2715fbc91264f968c5e9b9e11342	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with @DISEASE$.	false
+c1c55bde58ca86803f18c314e8313fa6d43c0136	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, @DISEASE$ and proteinuria with renal failure.	false
+ed998bc199b45b32283751d37767a0109cf87b94	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and @DISEASE$ with renal failure.	false
+70d9014592990015c78202e91d4c02d8a9f2b760	Familial LCAT deficiency (FLD) is a rare @DISEASE$ associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	false
+c27b01764774ee112c3960bd2128cc821c83c275	Familial LCAT deficiency (@DISEASE$) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	false
+702803a17ad55dab1e3207d94ac375b4ae21acb3	Familial @DISEASE$ (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	false
+d7a144dcefde9986ed5ee3dda6871a1bbcd937bd	@PHENOTYPICFEATURE$ in familial @DISEASE$.	has_symptom
+b431cbde376048a23016ac2365bd13446d1d3ad7	Patients with @DISEASE$ and fish-eye disease frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with proteinuria.	has_symptom
+5e3f40061b7d3380d1af431908c1ae8d58a27849	Patients with FLD and fish-eye disease frequently present with @PHENOTYPICFEATURE$, @DISEASE$ and renal failure with proteinuria.	false
+665cef208bf014a262add071dcdc378ba8619ae6	Patients with FLD and fish-eye disease frequently present with @PHENOTYPICFEATURE$, anemia and renal failure with @DISEASE$.	false
+c35bb4579f2527df6ea0c25d4b68ce8064cd7c7b	Patients with @DISEASE$ and fish-eye disease frequently present with @PHENOTYPICFEATURE$, anemia and renal failure with proteinuria.	false
+db1406d677fbb3aa3b081ad568fbbb2311078d34	Patients with FLD and @DISEASE$ frequently present with @PHENOTYPICFEATURE$, anemia and renal failure with proteinuria.	false
+8cba39e9d729a42c8241a6b842c3acc71556c614	Patients with FLD and fish-eye disease frequently present with @PHENOTYPICFEATURE$, anemia and @DISEASE$ with proteinuria.	false
+3131ce193fdddd6f55674bb780a75c0874457565	In familial lecithin:cholesterol acyltransferase (LCAT) deficiency (@DISEASE$), deposition of abnormal lipoproteins in the renal stroma ultimately leads to @PHENOTYPICFEATURE$.	has_symptom
+25c5c570b910852f15cf55bb9db4be6df795d903	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (@DISEASE$) developed metabolic syndrome, which combining @PHENOTYPICFEATURE$, type 2 diabetes, hypertension and mixed hyperlipidemia.	has_symptom
+2ed577f8e74311e5e71a198caaf6209c7e411291	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (Sheehan's syndrome) developed metabolic syndrome, which combining @DISEASE$, type 2 diabetes, @PHENOTYPICFEATURE$ and mixed hyperlipidemia.	false
+fd92dbf28e9fe778a0c2a54b07d94736bcf4228d	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (Sheehan's syndrome) developed metabolic syndrome, which combining obesity, @DISEASE$, hypertension and mixed @PHENOTYPICFEATURE$.	false
+a0b8feed389b8fbfb3dc2edf5f835c65c5576aff	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (@DISEASE$) developed metabolic syndrome, which combining obesity, type 2 diabetes, @PHENOTYPICFEATURE$ and mixed hyperlipidemia.	false
+250fb0346f1f0856ecbbd8bf5d771092b63f3551	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (@DISEASE$) developed metabolic syndrome, which combining obesity, type 2 diabetes, hypertension and mixed @PHENOTYPICFEATURE$.	false
+f8e64f6a06ce12f0fb49baace446bf8abd6286a8	A 39-year-old woman receiving hormone replacement therapy for @DISEASE$ diagnosed 13 years earlier (Sheehan's syndrome) developed metabolic syndrome, which combining obesity, type 2 diabetes, @PHENOTYPICFEATURE$ and mixed hyperlipidemia.	false
+3a18f517fd7c97c4523d4be22842fdb953ac55f6	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (Sheehan's syndrome) developed metabolic syndrome, which combining @DISEASE$, type 2 diabetes, hypertension and mixed @PHENOTYPICFEATURE$.	false
+77d2340e78a1b0d2201d9d1b7c74017334780d5f	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (Sheehan's syndrome) developed @DISEASE$, which combining obesity, type 2 diabetes, hypertension and mixed @PHENOTYPICFEATURE$.	false
+971a844dead174c2d37cf083675447fc5ac600e4	A 39-year-old woman receiving hormone replacement therapy for @DISEASE$ diagnosed 13 years earlier (Sheehan's syndrome) developed metabolic syndrome, which combining obesity, type 2 diabetes, hypertension and mixed @PHENOTYPICFEATURE$.	false
+d79ab755bca9b4601a2f322da221add23229aa6e	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (Sheehan's syndrome) developed metabolic syndrome, which combining obesity, @DISEASE$, @PHENOTYPICFEATURE$ and mixed hyperlipidemia.	false
+d1abe61c5739866d00a7c62515f5c2da0f0ef75b	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (Sheehan's syndrome) developed @DISEASE$, which combining obesity, type 2 diabetes, @PHENOTYPICFEATURE$ and mixed hyperlipidemia.	false
+4b8cf70ea78f91dcc27099a9e47be8dbe8fb0536	Midaortic syndrome in @DISEASE$ resulting in bilateral @PHENOTYPICFEATURE$.	has_symptom
+a4f2411ec84b89b0f1e263a150d776a575c950b8	In children with @DISEASE$ and hypertension, @PHENOTYPICFEATURE$ is far more common than pheochromocytoma.	has_symptom
+aa9b24d1c6d98842a0b63b5c5059f47f5129be9c	A young @DISEASE$ patient is described with an aneurysm of the superior mesenteric artery complicating renovascular hypertension associated with aortic coarctation and @PHENOTYPICFEATURE$.	has_symptom
+7f2763e1f56c4c26b6883bfa38f6883cc7e5cae5	A 17-year-old male with @DISEASE$ presented with severe hypertension secondary to an abdominal aortic coarctation and bilateral @PHENOTYPICFEATURE$.	has_symptom
+643d914e531b52fe0478d55cc6b70fca55f6e1a0	Bilateral @PHENOTYPICFEATURE$ in association with @DISEASE$ (Recklinghausen's disease): report of two cases.	has_symptom
+c37743fd7f2985ed82716d96794e08e45d3b4261	Imaging showed midaortic syndrome with bilateral @PHENOTYPICFEATURE$ as the cause of her hypertension, and further investigations showed @DISEASE$ as the underlying disorder.	has_symptom
+afd4ef0fd83d79b5fd8dfd3b4854c64e10d47842	Simple surgical repair of bilateral @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+697859b856af6b964a1322f5451ed68e9db73b8c	Treatment of @DISEASE$ associated @PHENOTYPICFEATURE$ with hypertension by percutaneous transluminal angioplasty.	has_symptom
+b5aa242fc86b4fb723c9ace004fd22e83e01355a	Secondary hypertension and @DISEASE$: bilateral @PHENOTYPICFEATURE$ and coarctation of the abdominal aorta.	has_symptom
+1d00f0e2faaf853ea8c23c639847791835d00ad4	A case of bilateral @PHENOTYPICFEATURE$ and aneurysms in association with @DISEASE$ and hypertension is discussed and the literature is reviewed.	has_symptom
+48578da0216b57e78432f9a9d3eb93b6efd5ab23	In addition, various disorders are reported like @PHENOTYPICFEATURE$ (VSD), mitral and tricuspid valves defects, aortic septal defect (@DISEASE$), reduction of lung and lung vessels' resistance, pulmonary hypertension, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	has_symptom
+d7e00779c6dbd8302685f3bedcb536c14f989f46	In addition, various @DISEASE$ are reported like ventricular septal defect (VSD), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+60d70ed5538445bde439a43ad800f139f22c0a29	In addition, various disorders are reported like ventricular septal defect (VSD), mitral and tricuspid valves defects, aortic septal defect (@DISEASE$), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+ded22f8ad0dce25a41edc12ac3f90f71c3547c3f	In addition, various disorders are reported like ventricular septal defect (@DISEASE$), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+e4bc70a816aec224670df561c1d1d14c400bb0d5	In addition, various disorders are reported like @DISEASE$ (VSD), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+44c7fc602bca2270f8890d72a64491a2d270859a	Systemic evaluation revealed multiple congenital anomalies: benign external hydrocephalus, esophageal atresia with imperforate anus, atrial septal defect (@DISEASE$), @PHENOTYPICFEATURE$, patent ductus arteriosis (PDA), and right mild hydronephrosis.	has_symptom
+dea7ce83333f98319806cbc5a7bc65e79e09f889	Systemic evaluation revealed multiple congenital anomalies: benign external @PHENOTYPICFEATURE$, esophageal atresia with imperforate anus, atrial septal defect (@DISEASE$), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis.	false
+782bffe031d71dbeebd9143ba33db0afeb4104f8	Systemic evaluation revealed multiple congenital anomalies: benign external @PHENOTYPICFEATURE$, esophageal atresia with imperforate anus, atrial septal defect (ASD), @DISEASE$, patent ductus arteriosis (PDA), and right mild hydronephrosis.	false
+7025d5de9f78edb111106cff7ca0995302003812	Systemic evaluation revealed multiple @DISEASE$: benign external @PHENOTYPICFEATURE$, esophageal atresia with imperforate anus, atrial septal defect (ASD), ventricular septal defect, patent ductus arteriosis (PDA), and right mild hydronephrosis.	false
+4e2676e8e91cf719169a87f1b61822cf3fef8801	@DISEASE$ due to pancreatic hypoplasia with @PHENOTYPICFEATURE$ has been reported before and may represent a distinct condition.	has_symptom
+de56b1ccf84f7638100e462ece98a9ff89d60e8b	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @PHENOTYPICFEATURE$ alongside optic nerve atrophy or retinal degeneration and pyramidal signs.	has_symptom
+14195d69020d75009610b56627bbe62ad418cf23	Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @DISEASE$ alongside @PHENOTYPICFEATURE$ or retinal degeneration and pyramidal signs.	false
+49e1a143db5ae22f504234e5b914393e189c426a	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or @PHENOTYPICFEATURE$ and pyramidal signs.	false
+dbc11e656df3d9de81205f38bcbc713e1dfd4323	@DISEASE$ (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside @PHENOTYPICFEATURE$ or retinal degeneration and pyramidal signs.	false
+ac84fb8a4f51e292b581561ff58f6c181e75da82	Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and @DISEASE$ alongside optic nerve atrophy or @PHENOTYPICFEATURE$ and pyramidal signs.	false
+f0ef73aa9a0f9802c8206faf694eee0c9392a793	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/@DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	has_symptom
+d6c94c67ae86d018258cae130622b00be100176d	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and @DISEASE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+ef49579da6f702b3e8f1417e361b54f87837353e	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and @DISEASE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+1aceaeacecab98512e60ea4cdef28e62cdcc23de	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+433d50deca2802709feae0405b5ab9df753dc16a	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+32fd1b7e9f480f1b35fe346ee96d733c15f4432d	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH), also called @DISEASE$.	has_symptom
+0e7d1e4db91743b4603ecc04e70f07a0fa842dc6	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with @PHENOTYPICFEATURE$ and @DISEASE$ (EAOH), also called ataxia with oculomotor apraxia type 1.	false
+f17e5cba0dd58d8ffcff8dce288741dd4a43cfbc	Mutations of the aprataxin (APTX) gene cause early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia (EAOH), also called @DISEASE$.	false
+395ea7564694a44bd99e084ac1dc541d6210964b	Mutations of the aprataxin (APTX) gene cause early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and @DISEASE$ (EAOH), also called ataxia with oculomotor apraxia type 1.	false
+b594d2623bcb2b973ee5754fa7a5c748561fcb05	Mutations of the aprataxin (APTX) gene cause early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH), also called @DISEASE$.	false
+407be5c57a429f1d82ed674b8591d4e1a90d9e0f	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/ @DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	has_symptom
+e7ec08a17449e60c10b9ba29c5a07e1ae2107d9b	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/ @DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+bd994dcc1da05de81335389d2af7af117e989fc7	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and @DISEASE$/ ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+0f3f39eaa668aaa384917a0bc506b43ec189bb2e	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and @DISEASE$/ ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+b0d43a4f902c11e220cd683764131ed4223be2aa	We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/ @DISEASE$ (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends.	false
+b3a7ee987c213c62993f2b08a85e790052579e6a	Aprataxin is the causative gene product for early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	has_symptom
+5d530816c7b09eefde002f835e85ef532809dc52	Aprataxin is the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+9af9406a9488154af0c8894f5276f86026b02249	Aprataxin is the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and @DISEASE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+08c5d11cb0653795bccd423d4f8c5c6d13d96b9c	Aprataxin is the causative gene product for early-onset @PHENOTYPICFEATURE$ with ocular motor apraxia and @DISEASE$/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+bb314a15c118de9c50ad8758c61ccc5f0abb5728	Aprataxin is the causative gene product for early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia/@DISEASE$ (EAOH/AOA1), the clinical symptoms of which are predominantly neurological.	false
+3562363f3d88ad2b2cbd5f453ca46b1e4b21dbca	@DISEASE$ (RVF) is a zoonosis primarily affecting ruminants, resulting in epidemic abortions, @PHENOTYPICFEATURE$, nasal and ocular discharges, haemorrhagic diarrhoea, and a high mortality rate among young animals.	has_symptom
+7a623416efc64ea1fb9ab510404a5568898dcf42	Recently, dengue fever, Alkhumra hemorrhagic @PHENOTYPICFEATURE$, and @DISEASE$ have emerged but no case of MERS-coronavirus, appeared in Saudi Arabia in 2012, have yet been observed during the 2012-2014?Hajj.	has_symptom
+12abb25546f0bb254b2272b8884cdf2c27e7983c	Other vector-borne virus infections, such as sandfly fever, @DISEASE$, chikungunya @PHENOTYPICFEATURE$ and Japanese encephalitis, have been diagnosed in travelers returning from endemic areas.	has_symptom
+430261d745a8e0e4ee0c4df6272271cc170f9dca	Epidemiological notes on some viruses isolated in Uganda; Yellow fever, @DISEASE$, Bwamba @PHENOTYPICFEATURE$, West Nile, Mengo, Semliki forest, Bunyamwera, Ntaya, Uganda S and Zika viruses.	has_symptom
+a4301c78dad8eecb878592bdb62e0840dc1c1fbe	Certain arboviral diseases cause significant economic losses in domestic animals-for example, Eastern, Western and Venezuelan equine encephalitides, West Nile encephalitis, Nairobi sheep disease, @DISEASE$, Akabane fever, Schmallenberg disease (emerged recently in Europe), African horse sickness, bluetongue, vesicular stomatitis, and African swine @PHENOTYPICFEATURE$; all of these (except for Akabane and Schmallenberg diseases) are notifiable to the World Organisation for Animal Health (OIE, 2012).	has_symptom
+5584f87da4721c21f8c06f5e25fe330cbe5a8eee	Certain arboviral diseases cause significant economic losses in domestic animals-for example, Eastern, Western and Venezuelan equine encephalitides, West Nile encephalitis, Nairobi sheep disease, @DISEASE$, Akabane @PHENOTYPICFEATURE$, Schmallenberg disease (emerged recently in Europe), African horse sickness, bluetongue, vesicular stomatitis, and African swine fever; all of these (except for Akabane and Schmallenberg diseases) are notifiable to the World Organisation for Animal Health (OIE, 2012).	has_symptom
+2347900c141ef799548a2cea72fe5f1ef656b1ad	Hypothetically, the vector-borne diseases subject to be influenced by the climate change in Spain would be those transmitted by dipterans, such as dengue fever, West Nile encephalitis, @DISEASE$, malaria and leishmaniasis; tick-transmitted diseases, such as Crimean-Congo hemorrhagic fever, tick-borne encephalitis, Lyme disease, spotted fever and endemic relapsing @PHENOTYPICFEATURE$; and rodent-transmitted diseases.	has_symptom
+50c887e95bb0a2e03a5effe00a57adda56cd7694	Our data reveal an identifiable clinical syndrome suggestive of severe @DISEASE$, characterized by @PHENOTYPICFEATURE$, large-joint arthralgia, and gastrointestinal complaints and later followed by jaundice, right upper-quadrant pain, and delirium, often coinciding with hemorrhagic manifestations.	has_symptom
+156f5b8dda5e0eff5ef320e250e7ab7fc92a1159	Our data reveal an identifiable clinical syndrome suggestive of severe @DISEASE$, characterized by fever, large-joint @PHENOTYPICFEATURE$, and gastrointestinal complaints and later followed by jaundice, right upper-quadrant pain, and delirium, often coinciding with hemorrhagic manifestations.	false
+1d6f899d5a113c23e32f4542d07fea68da1134e8	Our data reveal an identifiable clinical syndrome suggestive of severe RVF, characterized by @DISEASE$, large-joint @PHENOTYPICFEATURE$, and gastrointestinal complaints and later followed by jaundice, right upper-quadrant pain, and delirium, often coinciding with hemorrhagic manifestations.	false
+df35ccde4d5466bfbdcd073871029b115d8fd040	There is no published information about the role of mosquitoes in the transmission of the causal agents of avian malaria, avian pox, bovine ephemeral fever, dengue fever, @DISEASE$, Sindbis @PHENOTYPICFEATURE$, Deraiophoronema evansi infection, lymphatic filariasis, anthrax and tularemia in Iran.	has_symptom
+5ef98900df68921032b6e0d0255848821621d27d	Arboviral diseases in endotherm animals may therefore be classified as: tick-borne (louping ill and tick-borne encephalitis, Omsk hemorrhagic fever, Kyasanur Forest disease, Tyuleniy fever, Nairobi sheep disease, Soldado @PHENOTYPICFEATURE$, Bhanja fever, Thogoto fever, African swine fever), mosquito-borne (Eastern, Western, and Venezuelan equine encephalomyelitides, Highlands J disease, Getah disease, Semliki Forest disease, yellow fever, Japanese encephalitis, Murray Valley encephalitis, West Nile encephalitis, Usutu disease, Israel turkey meningoencephalitis, Tembusu disease/duck egg-drop syndrome, Wesselsbron disease, La Crosse encephalitis, Snowshoe hare encephalitis, Cache Valley disease, Main Drain disease, @DISEASE$, Peruvian horse sickness, Yunnan disease), sandfly-borne (vesicular stomatitis-Indiana, New Jersey, and Alagoas, Cocal disease), midge-borne (Akabane disease, Aino disease, Schmallenberg disease, Shuni disease, African horse sickness, Kasba disease, bluetongue, epizootic hemorrhagic disease of deer, Ibaraki disease, equine encephalosis, bovine ephemeral fever, Kotonkan disease), and cimicid-borne (Buggy Creek disease).	has_symptom
+ae584f9e9e0acd2231e9cfe66099bd41553457b6	Arboviral diseases in endotherm animals may therefore be classified as: tick-borne (louping ill and tick-borne encephalitis, Omsk hemorrhagic fever, Kyasanur Forest disease, Tyuleniy fever, Nairobi sheep disease, Soldado fever, Bhanja fever, Thogoto @PHENOTYPICFEATURE$, African swine fever), mosquito-borne (Eastern, Western, and Venezuelan equine encephalomyelitides, Highlands J disease, Getah disease, Semliki Forest disease, yellow fever, Japanese encephalitis, Murray Valley encephalitis, West Nile encephalitis, Usutu disease, Israel turkey meningoencephalitis, Tembusu disease/duck egg-drop syndrome, Wesselsbron disease, La Crosse encephalitis, Snowshoe hare encephalitis, Cache Valley disease, Main Drain disease, @DISEASE$, Peruvian horse sickness, Yunnan disease), sandfly-borne (vesicular stomatitis-Indiana, New Jersey, and Alagoas, Cocal disease), midge-borne (Akabane disease, Aino disease, Schmallenberg disease, Shuni disease, African horse sickness, Kasba disease, bluetongue, epizootic hemorrhagic disease of deer, Ibaraki disease, equine encephalosis, bovine ephemeral fever, Kotonkan disease), and cimicid-borne (Buggy Creek disease).	has_symptom
+7c8c7ba87f5328f3be373486e7cb48765201dea0	Arboviral diseases in endotherm animals may therefore be classified as: tick-borne (louping ill and tick-borne encephalitis, Omsk hemorrhagic fever, Kyasanur Forest disease, Tyuleniy @PHENOTYPICFEATURE$, Nairobi sheep disease, Soldado fever, Bhanja fever, Thogoto fever, African swine fever), mosquito-borne (Eastern, Western, and Venezuelan equine encephalomyelitides, Highlands J disease, Getah disease, Semliki Forest disease, yellow fever, Japanese encephalitis, Murray Valley encephalitis, West Nile encephalitis, Usutu disease, Israel turkey meningoencephalitis, Tembusu disease/duck egg-drop syndrome, Wesselsbron disease, La Crosse encephalitis, Snowshoe hare encephalitis, Cache Valley disease, Main Drain disease, @DISEASE$, Peruvian horse sickness, Yunnan disease), sandfly-borne (vesicular stomatitis-Indiana, New Jersey, and Alagoas, Cocal disease), midge-borne (Akabane disease, Aino disease, Schmallenberg disease, Shuni disease, African horse sickness, Kasba disease, bluetongue, epizootic hemorrhagic disease of deer, Ibaraki disease, equine encephalosis, bovine ephemeral fever, Kotonkan disease), and cimicid-borne (Buggy Creek disease).	has_symptom
+2bd8056d9c794ede83b1477a2b4506a4243d2d77	Arboviral diseases in endotherm animals may therefore be classified as: tick-borne (louping ill and tick-borne encephalitis, Omsk hemorrhagic fever, Kyasanur Forest disease, Tyuleniy fever, Nairobi sheep disease, Soldado fever, Bhanja @PHENOTYPICFEATURE$, Thogoto fever, African swine fever), mosquito-borne (Eastern, Western, and Venezuelan equine encephalomyelitides, Highlands J disease, Getah disease, Semliki Forest disease, yellow fever, Japanese encephalitis, Murray Valley encephalitis, West Nile encephalitis, Usutu disease, Israel turkey meningoencephalitis, Tembusu disease/duck egg-drop syndrome, Wesselsbron disease, La Crosse encephalitis, Snowshoe hare encephalitis, Cache Valley disease, Main Drain disease, @DISEASE$, Peruvian horse sickness, Yunnan disease), sandfly-borne (vesicular stomatitis-Indiana, New Jersey, and Alagoas, Cocal disease), midge-borne (Akabane disease, Aino disease, Schmallenberg disease, Shuni disease, African horse sickness, Kasba disease, bluetongue, epizootic hemorrhagic disease of deer, Ibaraki disease, equine encephalosis, bovine ephemeral fever, Kotonkan disease), and cimicid-borne (Buggy Creek disease).	has_symptom
+1638d7200535ea22c3f4192e4a6a5ca78a396671	This list included the arthropodborne viral infections prevalent in southern Africa, namely, chikungunya fever, Sindbis @PHENOTYPICFEATURE$, West Nile fever, yellow fever, and @DISEASE$; viral infections associated with rodents, such as Lassa fever; the viral infection associated with monkeys, Marburg virus disease; the rickettsial infections; tick-bite fever (the variety of spotted fever of tick typhus occurring in southern Africa) and Q fever; the bacterial infections, especially the coccal infections, plague septicemia, and meningococcal, staphylococcal, and streptococcal septicemia; and the blood protozoal infections malaria and trypanosomiasis.	has_symptom
+0b6eb35a3164002d630d3985f306c5c41d55074e	Voxel-Based Morphometry in Individuals at Genetic High Risk for @PHENOTYPICFEATURE$ and Patients with @DISEASE$ during Their First Episode of Psychosis.	has_symptom
+fa171f3d3ef3eb62561abfa0276d69499b756255	Meta-analysis of the association between suicidal ideation and later suicide among patients with either a @DISEASE$ spectrum @PHENOTYPICFEATURE$ or a mood disorder.	false
+881283aeab5978891bba92da8f9293e34a9f975d	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, @PHENOTYPICFEATURE$/microphthalmia, and cardiac defect) (Spear syndrome, @DISEASE$): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	has_symptom
+0caab7f75607338c8a9c5c3acdc1dd5bcfe0df1c	The PDAC @DISEASE$ (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/@PHENOTYPICFEATURE$, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+e8d550a2f434dc2160a596636cb6dfa0cc3be180	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, @DISEASE$/@PHENOTYPICFEATURE$, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+8bd371d28369cea41fb127e4857b534e1b12a662	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/@PHENOTYPICFEATURE$, and cardiac defect) (Spear syndrome, @DISEASE$): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+204619788c0ea52a01bb79cdfd620ade5cb4db7b	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/@PHENOTYPICFEATURE$, and cardiac defect) (Spear @DISEASE$, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+280164f6f66f8d3053a23ea546ed3e036c87a785	The diagnosis of @DISEASE$ was suspected given the association of bilateral @PHENOTYPICFEATURE$, agenesis of the left lung, and heart and kidney defects.	has_symptom
+a5248339d95f0fb8a656d6a4b29f4c15480154ad	@DISEASE$ of mirror hands and feet and @PHENOTYPICFEATURE$.	has_symptom
+87b7d6490b578c057b01de695f8eda8559b621ca	A 28-year-old man with @DISEASE$ had increased @PHENOTYPICFEATURE$ frequency and rapidly progressive spasticity.	has_symptom
+248cf7ab4b5f342695d9b559bef3662f35f6d940	After treatment in children who were diagnosed IMD, the well controlled @PHENOTYPICFEATURE$ and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of @DISEASE$, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each.	has_symptom
+6c1703ed44af63e03c444d791328ce755a1283fc	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	has_symptom
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ef8f8ead6f14a0bc107fefc00e461b8faa158212	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @DISEASE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7eb0d94474b748530e30ef6fb18c2e155b59dbf1	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec927316761d47b7022c8fca3fb46c85ead56562	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cce253f54fab1a039e34a992c6fb45e42b34d39	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cb2c4576018ce254ab848beece0111ac08b89a9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9e19804b0aadcf8285633a593df49aa8934da7cd	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+31033628fd26adbf5774889cb8d94358d15655b6	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e08a95fcfffb1c7045f3ee9fd9b3dbeac07a7e5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d448946ddd373c3c38e4f4a4c38baa8b567deca3	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+62da2edbb8fa35a1a12fff176bc700aec869b668	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4c566cb4c61f4b66aa798d30f5940b298fba0333	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ff25a8e034fa40c3874f72598729e7c5cfe43cd3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+339c5d445e31e3fd9f431036868d7a884f89772f	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f997aa3a2454392c4e727f5a6c01aeff3e34556a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+82d912ae0bfa855e2b89582cad56f1c0b13da3a4	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+517a2f30ab26a875eb140f96bc4e48caad26efa9	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cc296a9eaf9cfa0392003fc7a2ff941528c7345b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+98de6f04fd617cf64f212aa719631dd713522302	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4ffe20031a853fae9e7f27f205bbf43dbcd82a26	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @DISEASE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+74d0cb5230c2012b939a7adf3364ed51d851d87f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fa828efd1572bed6ca53f0d21b4be4bda0343031	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e733291e61d5314afc09ae9cc7a27c641ebb491a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+00a7fcd92938cdda6c3b4262724db9e388504501	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0cd35cfbcf8774d96e55806966758512d35f78e3	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @DISEASE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+617c7744c8a3328db4ac847ae9a5a2f59c2f854d	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf5828147d37b45652584ccd78f975e586c2619b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6cc9069dac2ee2bb198be70b69b71aec65b59ab8	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: @DISEASE$, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+3b30600a846c5552dc1e1a74adeb0c9927b5856b	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+db2ebc68aa9a6de988250cd90a8bc1f199a931d2	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a8d3f91c8b1618c71c186bca4c835032495559d0	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+44c0e9bd455a45c0b6b4611b7d7a4ed6de0bdae7	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d8d139ffeba166ce6c06cf71054bfb4578e2e49e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+af5a7a3fb8f5aa6dc759b48e67ff486bda39c7be	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+74f7284df309d09f2545bb5630f5c5954854a5e9	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating @DISEASE$-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+680ea97569557c68afdef382c3e5b26831708229	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8a6bc5771c82aac51d9ada6c307d88c7a371cf86	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fae808840866b52231280e527f67db5b3213d201	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+cf8fe3d5f6175e4a8d9aa733516c3369adf643d4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+fcb92cd87620bd2b45e0510d08b0b9a381650f69	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+55829eaf89b02916d234991d305b13fa237cce09	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e24c614428d56caad6cabf180d8df7ac038dea59	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9abf5f856f99818886f2b3c2ffda2da678b9422b	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: @DISEASE$, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c9daf7e65778e65387b425beec499b8e1d1eb2cb	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: @DISEASE$; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+58b3dda5fd1d6c47f393c0a2c5d7b52da9a85b8c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: @DISEASE$-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec2b67d86a7069bd56e975d9be8cc2dbf44bb5a5	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: @DISEASE$; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7e88e189667dce9cf5ffb187cc647b1e6598ec9d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d6caf862f87afb4036ded1011f1e9a1891cb53d9	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5a67f4a99e9f5d401a9c5f1c77b17ff0d4ab4e82	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a4dc4d6962c1ed7141c4d51bc45ec7d653d8bd2a	@DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation (? Ruvalcava-Myhre-Smith syndrome)--a case report.	has_symptom
+f83420b7437a4597117f24f3fe487bae18c2fda2	Juvenile polyposis with @DISEASE$ and @PHENOTYPICFEATURE$ (? Ruvalcava-Myhre-Smith syndrome)--a case report.	false
+0cc25de41ae66344e37538008b7400b0a26d9f8d	Juvenile polyposis with macrocephaly and @PHENOTYPICFEATURE$ (? Ruvalcava-Myhre-Smith @DISEASE$)--a case report.	false
+869486dbfa98e49c068b9be8def024c708d5562d	@DISEASE$ with macrocephaly and @PHENOTYPICFEATURE$ (? Ruvalcava-Myhre-Smith syndrome)--a case report.	false
+65338b666d4ecbb100c3b644f4be9bb06623c0cc	The phenotypes are not restricted to severe infantile @DISEASE$ but include childhood-onset cases with @PHENOTYPICFEATURE$, retardation, mild gastrointestinal symptoms and possibly early-onset colorectal cancer.	has_symptom
+c0ed499d1b3970ca00c32f9b0948aa4ba87a072f	The rarity and importance of the diagnosis of @DISEASE$ associated with @PHENOTYPICFEATURE$ and mental retardation (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.	has_symptom
+2d28d1b152186986c01673601a8d4d27918456f5	The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with @DISEASE$ and @PHENOTYPICFEATURE$ (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.	false
+0873a359803f0b777ab1c5a18a6b9de45ac72a30	The rarity and importance of the diagnosis of @DISEASE$ associated with macrocephaly and @PHENOTYPICFEATURE$ (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.	false
+137f988d4a0cd61decf18b83a15b35160db04719	The rarity and importance of the diagnosis of juvenile polyposis syndrome associated with macrocephaly and @PHENOTYPICFEATURE$ (?Ruvalcava-Myhre-Smith @DISEASE$) prompted the documentation of this case.	false
+6a18d39aa03f4e6755e740f992c71008ad15a332	In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive @DISEASE$ and multiple extra-intestinal anomalies including @PHENOTYPICFEATURE$, developmental delay, short stature, hypothyroidism, atrial septal defect, ventricular septal defect and hypospadias.	has_symptom
+f900427ea08b7e94b509856fb04ae6d3d27b2e89	In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive @DISEASE$ and multiple extra-intestinal anomalies including macrocephaly, developmental delay, @PHENOTYPICFEATURE$, hypothyroidism, atrial septal defect, ventricular septal defect and hypospadias.	false
+455fe13919b49a346f361d35b9cfcc2b7e952094	In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, hypothyroidism, atrial septal defect, ventricular septal defect and hypospadias.	false
+9a67d4c88f40a4fbb56fc75e044bcc66ad2a9c87	In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly, developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, atrial septal defect, ventricular septal defect and hypospadias.	false
+c069043c93e5e6e29f10b73ac23f15e8b02398c9	In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly, developmental delay, @PHENOTYPICFEATURE$, hypothyroidism, atrial septal defect, ventricular septal defect and @DISEASE$.	false
+61b96d03fb2bc75613f87951877595a36e220e86	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous polyposis condition with features of @PHENOTYPICFEATURE$, intestinal @DISEASE$, developmental delay, lipomas, and pigmentation spots of the male genitalia.	has_symptom
+42cabee9afc583a784609b1747862d14f7c8a84a	Bannayan-Riley-Ruvalcaba syndrome is a congenital syndrome with characteristic features of @PHENOTYPICFEATURE$, cognitive and motor dysfunction, subcutaneous and visceral lipomas and hemangiomas, and intestinal @DISEASE$.	has_symptom
+09315d2df020c1c54143a0203883dc5dbf8c5987	Here, we report two unrelated patients with @DISEASE$, @PHENOTYPICFEATURE$, intellectual disability, and hyperpigmented skin macules.	has_symptom
+77ad38c3a80acf64754a220b5d3d1f8dc547c762	Here, we report two unrelated patients with @DISEASE$, macrocephaly, @PHENOTYPICFEATURE$, and hyperpigmented skin macules.	false
+43ab567e4a811eeb802daa11d64912342cf25d11	Here, we report two unrelated patients with juvenile polyposis, @DISEASE$, @PHENOTYPICFEATURE$, and hyperpigmented skin macules.	false
+fe9607406f9fd08b235fd9de51b791595e0e9eb5	We studied 21 patients, from 18 families, with @DISEASE$ (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, @PHENOTYPICFEATURE$, and subcortical leukoencephalopathy.	has_symptom
+550e0459c42e09bf70559aad7c609b20f398b7df	We studied 21 patients, from 18 families, with @DISEASE$ (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and @PHENOTYPICFEATURE$, seizures, and subcortical leukoencephalopathy.	false
+03ed6df613a13ecc51e9233b1130826ae6d9281d	We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and @PHENOTYPICFEATURE$, @DISEASE$, and subcortical leukoencephalopathy.	false
+c23b1498d794f87d1d891eb98e5f41216471abbb	@DISEASE$ and right @PHENOTYPICFEATURE$: unusual diagnosis of occlusion of the left common carotid artery.	has_symptom
+b3ada2198908190d410ca3109bdc4247b6b9c21a	Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with @DISEASE$ (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, @PHENOTYPICFEATURE$ and an increased risk of malignancy.	has_symptom
+b06ab93b04eeadc8c6efa9efdf1c2866a3aec812	Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, @PHENOTYPICFEATURE$, @DISEASE$ and an increased risk of malignancy.	false
+b0527b385bc937242fefa5a75436dd77b38d95da	Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with @DISEASE$ (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, @PHENOTYPICFEATURE$, cataracts and an increased risk of malignancy.	false
+200cd9aebf0cac63451e658a6bc93253dd7be098	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	has_symptom
+536d1ab3390721c6905c53362a25d59c1f1a445a	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	has_symptom
+428e3947c746e99ed71834fd5c8658559e069efa	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, @DISEASE$ and an increased risk of cancer.	false
+9101b4a6428a08b7587a65c2824468ec642e9bd7	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+5961861589e3164acfcdbe3d4bee557909c7de49	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of @DISEASE$.	false
+98ff0fc430d1e18c7e6f75fa2d8ee3d4922210a7	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive @DISEASE$ characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+c13bb97b2de87f8147c5e74e33b3aae78fa2505c	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive @DISEASE$ characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	false
+d4da08f3a0dca979ec97237e9204623d4e0b77b6	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+42a62342e9ea89550738d3f8284d1209467242eb	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	false
+5d5406baaa77c39f70a0e7189f1a96480cfab361	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	false
+ba87386414814f9d5baef72a1ed11a3c6c253821	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of @DISEASE$.	false
+64329ef011850753eae6ffc63b16a26430472386	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, @DISEASE$ and an increased risk of cancer.	false
+b330fc3074e2e103ab93da3f756005aef70d5928	@DISEASE$ in a young man without @PHENOTYPICFEATURE$ involvement.	has_symptom
+b1d8b5753d000c5dd14a5d51d6c189f1c94676a4	@DISEASE$ (AMDM) is an autosomal recessive skeletal disorder characterized by @PHENOTYPICFEATURE$ with shortening of the acromesomelic sections of the limbs.	has_symptom
+e76c1feb408c40da1b6ed630df9e71763313e93b	Madras motor neuron disease (@DISEASE$) has the characteristic features of onset in the young, atrophy and weakness of the limbs, multiple cranial nerve palsies particularly the seventh, ninth to twelfth and @PHENOTYPICFEATURE$ with unique geographic distribution to southern part of India.	has_symptom
+24ca99396989fcb0260ed7870136c72e54bae8a9	@DISEASE$ (MMND) has the characteristic features of onset in the young, atrophy and weakness of the limbs, multiple cranial nerve palsies particularly the seventh, ninth to twelfth and @PHENOTYPICFEATURE$ with unique geographic distribution to southern part of India.	has_symptom
+1050f763d394c609e23da59677f50eb9407ec80c	The characteristic features of @DISEASE$ (MMND) are onset in the young in the first two decades, sporadic occurrence, facial and bulbar paralysis, @PHENOTYPICFEATURE$, asymmetrical weakness of limbs and pyramidal signs with a slow progression.	has_symptom
+e5aef8ec75124fe0d7a81b1d121ccf03a8398621	The characteristic features of Madras motor neuron disease (@DISEASE$) are onset in the young in the first two decades, sporadic occurrence, facial and bulbar paralysis, @PHENOTYPICFEATURE$, asymmetrical weakness of limbs and pyramidal signs with a slow progression.	has_symptom
+b477c73ce522e19e7f351ddcd831bd2c82be320b	Novel mutation in SLC6A19 causing late-onset @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+89a2d22e1f0691a116a194b1032b3b3ac9fbea40	A novel SLC6A19 gene mutation was associated with late-onset @PHENOTYPICFEATURE$ in a Korean patient with @DISEASE$.	has_symptom
+b9da3c9a973b1d99274266dbbaa5d5ac27af5aed	Taken together, our data suggest that MsrB3 plays an essential role in maintaining the integrity of hair cells, possibly explaining the pathogenesis of @DISEASE$ @PHENOTYPICFEATURE$ in humans caused by MSRB3 deficiency.	has_symptom
+797972b4b02c1b07040b245edb107ebe5bdb19fc	This finding suggests that @DISEASE$ @PHENOTYPICFEATURE$ is due to a mitochondrial dysfunction.	has_symptom
+73c05803e2fc70ce835d5518a6f6d79b4a9cb969	@DISEASE$ (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo-sensitive skin-rash and @PHENOTYPICFEATURE$.	has_symptom
+374cda4672228a36a2449cd122b402e083da1bb6	The differential of acute and recurring @PHENOTYPICFEATURE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	has_symptom
+4ee3671c8a2374ee34eddb151084509080ce2e00	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and @DISEASE$.	false
+557a9d2e670dc1f39d40845879f8776055173a50	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+a500462817173bf6af13db09c6eb609920415a1a	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, @DISEASE$ (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+36c1373dcb0309cab7d74732b802e95fe145157c	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+8991b6786275d63c5588e41e900b2a33579a168e	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, @DISEASE$, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+f0dcb711168ddc1f3ee4d879dbb2be47a91a7548	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, @DISEASE$, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+c5d24f23bdfafd688784f97d822825b38c26e379	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+96ce6afe40ea6e1bf0be4ca13106aea79a7ccc43	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+7ffded346dcbcf4bd08ef11ae093787a50c7ed1d	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+b71c4245de23e69d751d53251d1289a3e3153b8b	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult @DISEASE$, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+166dd1e23c8aec7968a555793c153bd74d2808cf	The differential of acute and recurring @DISEASE$ covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+31fc54ca8bcfa4d934c4769347b683ba20154446	Wiedemann-Steiner Syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability.	has_symptom
+764e1702d220c81fa1b8c392b940993d5f1542e7	Our case highlights the need for GH testing in children with @DISEASE$ and @PHENOTYPICFEATURE$ as treatment with GH improves growth trajectory.	has_symptom
+34e743350de9a151a801405db8e5a81aaaa8f2f0	Growth hormone deficiency might be part of the phenotypic spectrum of Wiedemann-Steiner Syndrome (@DISEASE$).Investigation of pituitary function should be undertaken in children with WSS and @PHENOTYPICFEATURE$.	has_symptom
+87bf667070ea503c09d1dd57369a25f65c45443f	Growth hormone deficiency might be part of the phenotypic spectrum of Wiedemann-Steiner Syndrome (WSS).Investigation of pituitary function should be undertaken in children with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a44ca3a9947f6e6573f745b72ce8891fb817db7c	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (@DISEASE$).	has_symptom
+d464e509cc58e705208ed94ed93b8a2fc59e5230	We identified a cohort of six individuals with @DISEASE$ cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+5b79a4a1f1ff08d57b9c74f9cfe57e12f1ef832a	We identified a cohort of six individuals with hypertrichosis cubiti associated with @DISEASE$, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+0c8c49fb9550e78e45d6a2d1ef910d5273e90e5d	We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of @DISEASE$ (WSS).	false
+67c2592bdfc44e1a9ce9dc6dfb0ab69e08ac4560	We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (@DISEASE$).	false
+362c254386bd34405a80d622d57a94532f602f83	Wiedemann-Steiner syndrome (@DISEASE$) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, @PHENOTYPICFEATURE$, and characteristic facies.	has_symptom
+c3b7e6f944bb5a9789ebc70d1594b71b2c856211	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	has_symptom
+d3fbd3c078f9a9202b8cf68fdcb36fb366e1fdd7	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+c9a5cba42850ef063911c142f55550a3fb9c64a3	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+973c29f327d703be35151e8c94007d742de11f05	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+c239ee02d2e9a946232ad48d849600ed59dfc43c	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+b955afb2efdec4aaf8a2694c94d68376e3dff277	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @DISEASE$, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+efa6f7a871eaf3f7a382a3ce0f8c07bd8ad4f456	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+0fcda20f5c8baa26f9b984da3b6cbf1ec3741431	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+d92378fbac8e8180a24ffcc840c05f5d4a16922c	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+af06540542f2b8d47c45665d2c28b975030006a7	These findings suggest a relationship between familial @PHENOTYPICFEATURE$, ectodermal defects and cleft lip and palate (AEC) syndrome (@DISEASE$) and familial reticulate pigmentation of the skin.	has_symptom
+64773d2c21b2874e6432b3a346812b4574e7d419	Ankyloblepharon Ectodermal Dysplasia and Cleft Lip/Palate (AEC) or @DISEASE$ is an autosomal dominant disorder characterized by a variety of phenotypes in ectodermal derivatives, including severe skin erosions, @PHENOTYPICFEATURE$, coarse and wiry hair, scalp dermatitis, and dystrophic nails.	has_symptom
+16318a6047849c77c25f6ab80936442c1ccedd03	@PHENOTYPICFEATURE$ Ectodermal Dysplasia and Cleft Lip/Palate (AEC) or @DISEASE$ is an autosomal dominant disorder characterized by a variety of phenotypes in ectodermal derivatives, including severe skin erosions, ankyloblepharon, coarse and wiry hair, scalp dermatitis, and dystrophic nails.	has_symptom
+0e49c9040644cbe8959b3309bc393215f12b8a07	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	has_symptom
+3e1deb44b22167cebdd6493d056f3a893202d5c7	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, @DISEASE$ and cleft lip and/or @PHENOTYPICFEATURE$.	false
+458952fdc0b783951c63caec7b931a93686f2e24	Hay-Wells syndrome, also known as ankyloblepharon-@DISEASE$-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+6a06d2f3c76ea54bc2ffa8e9b8bac241aa005bd5	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital @DISEASE$, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+a36a28fab8de777b9ab349f10e208c7f82f1c4f1	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital @DISEASE$, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+916d584c3a2ffdc798c82723ffbc1e812129b05f	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, @DISEASE$ and cleft lip and/or cleft palate.	false
+2e0f0a03910cdbd6dcd166863f0ea0491275078b	Hay-Wells syndrome, also known as ankyloblepharon-@DISEASE$-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+77459b98073b60aa4789f045e74570ab926ea142	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+3f140b16b9ca92ac5164398828b7e12ec3e04c41	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and @DISEASE$ and/or cleft palate.	false
+448064a11c74a23165c6d0aec51f050748b6544d	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+a7bbfab2528a0cba81e4684ec9fa1782461d161f	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) @DISEASE$ (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+6b8f00bc8e6218e5692556bb412b4700d6090291	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp @DISEASE$, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+133e2f184b1f282393dae67c9a5433574798ff32	@DISEASE$, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+7a0b7b77422714d95aa5bb989afec99c9cd5d8bc	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) @DISEASE$ (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, @PHENOTYPICFEATURE$, ankyloblepharon and cleft lip and/or cleft palate.	false
+e2001077e05cce19f1575df0ee26e9c6a6ed5283	Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp @DISEASE$, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or @PHENOTYPICFEATURE$.	false
+94356fddbe6ee0a98775f81cbfff3ec2fd111734	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including @PHENOTYPICFEATURE$, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay.	has_symptom
+a5f2f053959a617587acddb37b1e5cb12f443088	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional @DISEASE$, and growth delay.	false
+23e7bab3a55662e48363d164a0073b75c3ed9674	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, @PHENOTYPICFEATURE$, additional @DISEASE$, and growth delay.	false
+ee44df53aeb08d23593e545033201290c73320fd	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including @DISEASE$, ED, cleft palate, ectrodactyly, @PHENOTYPICFEATURE$, additional hypogammaglobulinemia, and growth delay.	false
+52ed80b9949c5ab3d3ede600037e1599379d23f7	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, @PHENOTYPICFEATURE$, additional hypogammaglobulinemia, and growth delay.	false
+e3284a96af809c3b9d47095983b901bd0366a2d7	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including @DISEASE$, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+3e9e13603d983cb881a5c0261f081cf9f95f369d	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including @DISEASE$, ED, @PHENOTYPICFEATURE$, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+58f7fd5b9de24325c5f0d5fa85acdd59896a9084	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, @PHENOTYPICFEATURE$, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+49810afa806e1db663f8343b02d355c249f725a1	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, @PHENOTYPICFEATURE$, ectrodactyly, syndactyly, additional @DISEASE$, and growth delay.	false
+7ca5e73529b52dfcfddd73f914cfb89346077710	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+0337c4a5c8e704045a4b592ef7d09e72b36c637f	We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, @PHENOTYPICFEATURE$, and bilateral choanal atresia consistent with the diagnosis of @DISEASE$.	has_symptom
+628d3fcd195b5efeac3e86bc34d7c993fd62f668	p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance @DISEASE$ (@PHENOTYPICFEATURE$-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome).	has_symptom
+6030a632d2a077d7295858ddfdd0d0ca1f58968d	A clinical diagnosis of @PHENOTYPICFEATURE$-ectodermal defects-cleft lip/palate or @DISEASE$ resulted in TP63 sequence analysis.	has_symptom
+5d7685353da8803b0e336fde9013ea7025293284	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of @DISEASE$, an autosomal dominant disorder characterized by cleft palate, @PHENOTYPICFEATURE$ and ectodermal dysplasia associated with severe skin erosions, bleeding and infections.	has_symptom
+da334d23312fbe5a80030bd35261506969962932	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of AEC syndrome, an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, ankyloblepharon and @DISEASE$ associated with severe skin erosions, bleeding and infections.	false
+3d6a9be427ce517f27a14118205cf52d103b34c4	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of AEC syndrome, an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$ and ectodermal dysplasia associated with severe skin erosions, bleeding and infections.	false
+3a35a654fd38176672b4964b313e3afdfa8366b6	Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of @DISEASE$, an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, ankyloblepharon and ectodermal dysplasia associated with severe skin erosions, bleeding and infections.	false
+8e4f3c362858f17b938a5d15e6329acc804cef74	However, p63 mutations associated with the @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (AEC) syndrome (@DISEASE$) were found in the p63 carboxyl-terminal region with a sterile alpha-motif.	has_symptom
+491dc14d63e4baaeb5e11f5a5b0d254e1a32ee17	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @PHENOTYPICFEATURE$, seizures, and brain death by the age of three.	has_symptom
+f0ba0359db61ff17bfc20b9c6ae80536d63e0f50	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to blindness, @PHENOTYPICFEATURE$, and brain death by the age of three.	false
+65d60ea84a10ed512e73806908e5a927147fdfc9	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @DISEASE$, @PHENOTYPICFEATURE$, and brain death by the age of three.	false
+5584f433b887f5950407d2ac3aa79acb8d888054	We report on an African-American patient with alopecia universalis, @PHENOTYPICFEATURE$, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive @DISEASE$ in the literature.	has_symptom
+8cf36fec85ea99f27d0babd5753b9eeb70475c79	We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and @PHENOTYPICFEATURE$, and compare his phenotype to others with recessive @DISEASE$ in the literature.	false
+bf1fc00180ce735dc92ee41799160f220edbb91d	We report on an African-American patient with alopecia universalis, @DISEASE$, hypogonadism, and mental and @PHENOTYPICFEATURE$, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature.	false
+2ade7aa807cabf68b28944f4b98b5e9b0714a662	We report two cousins, born to consanguineous parents, with an @DISEASE$ and the additional features of @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+1c0d2397719d34cb86c8eb1171a9e5989b04d353	Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant @PHENOTYPICFEATURE$, may actually have @DISEASE$.	has_symptom
+1ae4054259dca9d4686f109662eba000c5e1eefc	We conclude that in all the children whit a clinical picture of hepatomegaly, splenomegaly, hypertriglyceridemia and @PHENOTYPICFEATURE$ it is obligatory to rule out an inborn error of lipid metabolism like Wolman's disease or @DISEASE$.	has_symptom
+9fe5143f03e02521f018122fd5011cff379e04ff	We herein report a case of @DISEASE$, who presents with a mild @PHENOTYPICFEATURE$, jaundice, splenomegaly, cholelithiasis and hemolysis.	has_symptom
+caeed78d74c372be9a51c0608401b8471ea9f987	The authors present a patient with clinical picture superposed to the @DISEASE$'s, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, @PHENOTYPICFEATURE$ and intermittent cerebellar ataxia.	has_symptom
+5f24913330963831c0e5615d3e80e7c9f9b201ee	In anesthetized dogs ethchlorvynol (ECV, 9 mg/kg) was selectively administered into the right pulmonary circulation to produce unilateral @DISEASE$ (ALI) characterized by nonhydrostatic pulmonary edema and systemic @PHENOTYPICFEATURE$.	has_symptom
+2d0170dab6f0b74ad4f6d6700259cb8285440d04	In anesthetized dogs ethchlorvynol (ECV, 9 mg/kg) was selectively administered into the right pulmonary circulation to produce unilateral acute lung injury (ALI) characterized by nonhydrostatic @PHENOTYPICFEATURE$ and systemic @DISEASE$.	false
+e2fde01c549fa01f7b26bb6c9ae9e381c398d925	In anesthetized dogs ethchlorvynol (ECV, 9 mg/kg) was selectively administered into the right pulmonary circulation to produce unilateral @DISEASE$ (ALI) characterized by nonhydrostatic @PHENOTYPICFEATURE$ and systemic hypoxemia.	false
+6a66426804a80a32ad04c06adf44d30e397a2d5f	Homozygosity for @DISEASE$ with a proven KIT mutation resulting in depigmentation of the skin and hair, @PHENOTYPICFEATURE$, developmental delay and autism spectrum disorder.	has_symptom
+b86f9e8cbc56ea9aa391a49e99ed61bec97fb890	Therefore, the Wads mutant may serve as a new disease model of human @DISEASE$, anemia, @PHENOTYPICFEATURE$, sterility, and mast cell diseases.	has_symptom
+f3552c1d801c5560f9b4ed02686767c0cccb73ea	Down's syndrome was observed in nine cases (11%), and a variety of other malformations were seen, including @DISEASE$, @PHENOTYPICFEATURE$, and HD in two sibships.	has_symptom
+f4d8e912b10c3d0c38b02fef9fc3c2bae97ab580	@DISEASE$, an autosomal dominant trait, is characterized by patchy hypopigmentation of the face, anterior chest, abdomen, and limbs, heterochromia/bicolored irises, congenital megacolon, and @PHENOTYPICFEATURE$.	has_symptom
+b6fc3e0c681a68dca0c55ad89c9491a1697b8435	@DISEASE$ with @PHENOTYPICFEATURE$: molecular evidence for an expanded syndrome.	has_symptom
+d3036f5c95b0f402fd50b0e50577f1ba7b2eed14	Most deafness in dogs is congenital sensorineural hereditary @PHENOTYPICFEATURE$, associated with the genes for white pigment: @DISEASE$ or merle.	has_symptom
+7acfacf979531444c67159f2905a235bc04bd4cd	Most @PHENOTYPICFEATURE$ in dogs is congenital sensorineural hereditary deafness, associated with the genes for white pigment: @DISEASE$ or merle.	has_symptom
+471a4d4462f89031fad001835c27bd8b469647d6	The striking parallel between the melanin pigmentary abnormalities of the hair and skin in piebaldism, Waardenburg's syndrome, piebaldism with @PHENOTYPICFEATURE$, and @DISEASE$ or Waardenburg's syndrome with aganglionosis of the gut suggests that all these disorders belong to the same category.	has_symptom
+cc271babff9be096ad25cddd65063905710723b0	The striking parallel between the melanin pigmentary abnormalities of the hair and skin in piebaldism, Waardenburg's syndrome, @DISEASE$ with @PHENOTYPICFEATURE$, and piebaldism or Waardenburg's syndrome with aganglionosis of the gut suggests that all these disorders belong to the same category.	has_symptom
+0d44d9236851480a51885502ee1982d8ddf30c73	The striking parallel between the melanin pigmentary abnormalities of the hair and skin in @DISEASE$, Waardenburg's syndrome, piebaldism with @PHENOTYPICFEATURE$, and piebaldism or Waardenburg's syndrome with aganglionosis of the gut suggests that all these disorders belong to the same category.	has_symptom
+22ba748d0fcf536bdcc34c77603c469e5e815dfb	Though auditory anomalies have been observed in mice with dominant white spotting (W) due to KIT mutations, @PHENOTYPICFEATURE$ is not typical in human @DISEASE$.	has_symptom
+8a394aafa95a040fc81eadea5201242691ae7518	Our data suggest that neuroepithelial cysts occur in conjunction with @DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+4755eda5a40ac84965a4ec64fdbeadb654651e84	We report a new case of @DISEASE$ with overlapping features, including diffuse progressive central nervous system neuroepithelial cysts and @PHENOTYPICFEATURE$.	has_symptom
+ccc37c07dc087043a12c6ddf342a7a1b401d7f4c	Cilia dysfunction contributes to @PHENOTYPICFEATURE$ formation in multiple human syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), @DISEASE$ (JBTS), and Bardet-Beidl syndrome (BBS).	has_symptom
+dc772cdc22a689c206257f52f6f9d42040dd8a59	@DISEASE$ (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), @PHENOTYPICFEATURE$, and hepatic fibrosis.	has_symptom
+2eb23d1f0713fd3e68718c6bf41463acf2f08e6c	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, @PHENOTYPICFEATURE$, and nystagmus), @DISEASE$, and hepatic fibrosis.	false
+cac96834799e1c5b7b46a618d45fa8b6f05adbf3	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and @DISEASE$ fibrosis.	false
+355bdabef6eb33243f33ac8f6e6f40c9935ec8f3	Joubert syndrome (JS) is an @DISEASE$ characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, @PHENOTYPICFEATURE$, and nystagmus), renal cysts, and hepatic fibrosis.	false
+6b65de5dd30d96dc1e3bc0ce569b423ad313b310	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), @DISEASE$, and hepatic fibrosis.	false
+89fc3e184d395342daebc16ad167d03e4eeade55	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, @PHENOTYPICFEATURE$, and nystagmus), renal cysts, and @DISEASE$ fibrosis.	false
+db1aeb648e0b2c925680df89924ef27ace3f1530	Joubert syndrome (JS) is an @DISEASE$ characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis.	false
+a491ff59a558498be04cfccc3d024ccf880998b0	@DISEASE$ (JS) is an autosomal recessive inherited disorder characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis.	false
+3c4ec2c5fb7815ccc75c885e369112e2d441b1c6	@DISEASE$ (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, @PHENOTYPICFEATURE$, and nystagmus), renal cysts, and hepatic fibrosis.	false
+64cc0c71e950ac8c78bcd30d1b373e14308f1c54	AHI1 mutations cause both retinal dystrophy and @PHENOTYPICFEATURE$ disease in @DISEASE$.	has_symptom
+2c30690e2b707381ecad13bf9389690ad23293e5	Neuroepithelial cysts in a patient with @DISEASE$ plus @PHENOTYPICFEATURE$.	has_symptom
+d3fbb984ce60236580ab6c481216cbe3b3163e24	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in @DISEASE$, a rare congenital disorder characterized by midbrain malformation, retinitis pigmentosa, @PHENOTYPICFEATURE$, and polydactyly.	has_symptom
+79dc5dc694b3ff7cc443079e61d54b0d08ff5124	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in @DISEASE$, a rare congenital disorder characterized by midbrain malformation, retinitis pigmentosa, renal cysts, and @PHENOTYPICFEATURE$.	false
+621853288d42354444614449642fdda8ba0697ac	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, retinitis pigmentosa, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e39164c2615671fdb35040eda9a7149fcbaeaabb	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, @DISEASE$, renal cysts, and @PHENOTYPICFEATURE$.	false
+740e6cf5a5770550af68b554636f984fd239f30c	@DISEASE$ (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), @PHENOTYPICFEATURE$ and hepatic fibrosis.	has_symptom
+647877756a8bc21ee27d408da8051f2f11622562	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), @DISEASE$ and hepatic fibrosis.	false
+d93f1b4d0c821c83ffe90f64da2f030056bc7548	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, @PHENOTYPICFEATURE$ and nystagmus), @DISEASE$ and hepatic fibrosis.	false
+084bec382ad89f4845b922aaa4560dc35a5022df	@DISEASE$ (JS) is an autosomal recessive inherited disorder characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis.	false
+e1f1474326b367d35847abc68475a0bfd78562ca	@DISEASE$ (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, @PHENOTYPICFEATURE$ and nystagmus), renal cysts and hepatic fibrosis.	false
+81ec9a419aff53097bc21216f4a2752b660bba70	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and @DISEASE$ fibrosis.	false
+97cfcfaa3ff3c393155e8c3697be9fa37973bfb0	Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, @PHENOTYPICFEATURE$ and nystagmus), renal cysts and @DISEASE$ fibrosis.	false
+a25037ca261ee67707ac46803ad6f7ab030a9862	Joubert syndrome (JS) is an @DISEASE$ characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, @PHENOTYPICFEATURE$ and nystagmus), renal cysts and hepatic fibrosis.	false
+142027c3725e20047d482c30c7ce1c8a1091bc16	Joubert syndrome (JS) is an @DISEASE$ characterized by hypotonia, @PHENOTYPICFEATURE$, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis.	false
+7173642b8075630240ef1c9db0098ea7a49daf2d	A subset of animals heterozygous for Csb and @DISEASE$ deficiencies was more mildly affected, demonstrating @PHENOTYPICFEATURE$ and Purkinje cell loss at 3 months of age.	has_symptom
+ebf288f6c76225611e3e29e37b2853f0c3879936	In case 1, a 71-year-old patient with a history of sphenoid wing @DISEASE$ presented with headache, @PHENOTYPICFEATURE$ and was found to have a mass with meningioma and glioblastoma (GBM) characteristics.	has_symptom
+4da2f7b613024d5268cecca6f726afc32f5c1224	In case 1, a 71-year-old patient with a history of sphenoid wing meningioma presented with headache, @PHENOTYPICFEATURE$ and was found to have a mass with @DISEASE$ and glioblastoma (GBM) characteristics.	has_symptom
+17ce4c95314d263f6f2c99999dff52eb3c802729	A 67-year-old male presented with a left temporal convexity vacuolated @DISEASE$ associated with acute subdural hematoma manifesting as sudden headache, @PHENOTYPICFEATURE$ without neurological deficit.	has_symptom
+0fb5378f38991b13628a36a8ac155f1ec3ce3ec5	The purpose of this study was to describe the methodology for the diagnosis of mild @PHENOTYPICFEATURE$ (MCI) in the Cardiovascular Health Study Cognition Study (@DISEASE$ CS).	has_symptom
+42772b60d7b72a171a9fe31301b8c09590f22458	We analyzed a sub-sample of @DISEASE$ participants 876 subjects (mean age 78.3, 57.5% F, 42.5% M) who had i) energy output assessed as kilocalories (kcal) per week using the standardized Minnesota Leisure-Time Activities questionnaire, ii) cognitive assessments for clinical classification of normal cognition, mild @PHENOTYPICFEATURE$ (MCI), and AD, and iii) volumetric MR imaging of the brain.	has_symptom
+5d6f16741be4d692f26f7452ebf8e18ed0b23b55	To examine the prevalence of mild @PHENOTYPICFEATURE$ (MCI) and its diagnostic classification in the Cardiovascular Health Study (@DISEASE$) Cognition Study.	has_symptom
+2624a4e2643c8e6e9c803ce6b4c4160b5cfa940c	To identify frailty subdimensions, factor analysis was conducted using the @DISEASE$ variables and an expanded set including the CHS variables, @PHENOTYPICFEATURE$, interleukin-6 (IL-6), C-reactive protein (CRP), subjective weakness, and anorexia.	has_symptom
+d6f95941a99a1a89f0af875e2c70f2f981bd5d3a	To identify frailty subdimensions, factor analysis was conducted using the CHS variables and an expanded set including the @DISEASE$ variables, @PHENOTYPICFEATURE$, interleukin-6 (IL-6), C-reactive protein (CRP), subjective weakness, and anorexia.	has_symptom
+352dfc2a80cb5f5478bf499805a6fef74692155a	The aim of this study was to evaluate the performance of the Memory Alteration Test (M@T) to discriminate between patients with early Alzheimer's disease (AD), patients with amnestic mild @PHENOTYPICFEATURE$ (a-MCI), and subjects with a cognitively healthy status (@DISEASE$).	has_symptom
+b0d647ed5104ac00a067009924112ae819e5fc16	Health professionals caring for cervical spinal cord injury patients with @DISEASE$ and @PHENOTYPICFEATURE$ should place emphasis on prevention of kidney stones.	has_symptom
+180ba478c32276b9aea0ad5f9d261a275e234f19	The patients with @DISEASE$ are at greater risk of having a @PHENOTYPICFEATURE$ and a vascular accident of the vertebral artery.	has_symptom
+fa6aa1d566a95f9c8a4c13da0b206348619df240	Of fifty patients with the diagnosis of @DISEASE$, less than half had the classic clinical triad of findings, while more than half had scoliosis, and a third had @PHENOTYPICFEATURE$.	has_symptom
+04872157ad5c4dc11a09278c5e9a44b89aa34df5	After 3 h of general anesthesia with desflurane, he developed a hypermetabolic state (hypercarbia, hyperthermia, @PHENOTYPICFEATURE$, and metabolic acidosis), consistent with the diagnosis of @DISEASE$.	has_symptom
+0bfac03ca2ac3888915d295553172005744f771a	After 3 h of general anesthesia with desflurane, he developed a hypermetabolic state (hypercarbia, @PHENOTYPICFEATURE$, hyperkalemia, and metabolic acidosis), consistent with the diagnosis of @DISEASE$.	false
+6a2c3c6f38435ea4bad80fa32017f37aa27e384c	After 3 h of general anesthesia with desflurane, he developed a hypermetabolic state (hypercarbia, @PHENOTYPICFEATURE$, @DISEASE$, and metabolic acidosis), consistent with the diagnosis of malignant hyperthermia.	false
+a477525c1b804c934596f28fdb06aaa9927f7fb9	Additionally, they are at risk of developing @DISEASE$, rhabdomyolysis and @PHENOTYPICFEATURE$ cardiac arrest when exposed to halogenated inhalational anaesthetics and depolarizing muscle relaxants.	has_symptom
+0b224ad6725d5f399fa72356d500ec65659aad22	The use of succinylcholine should be avoided in muscular dystrophies, motor neuron diseases, and intrinsic muscle disease due to a risk of @DISEASE$, @PHENOTYPICFEATURE$, rhabdomyolysis, and cardiac arrest.	has_symptom
+dd14de21cba2c1a3fe7ec261875a66a60fead7d1	@DISEASE$ and childhood @PHENOTYPICFEATURE$.	has_symptom
+2709d58ac28ac14c54afe5ea4e958d3955abbbfd	No maternal effect in childhood @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+e373d79aadf124501cebb590831c1c3e32b9e2be	Homozygosity at variant MLH1 can lead to secondary mutation in NF1, @DISEASE$ type I and early onset @PHENOTYPICFEATURE$.	has_symptom
+dd14de21cba2c1a3fe7ec261875a66a60fead7d1	@DISEASE$ and childhood @PHENOTYPICFEATURE$.	has_symptom
+e57ef9c7ec8a3cbee67de81bb969300a7e239f8a	Cutaneous manifestations of systemic disease: @PHENOTYPICFEATURE$/lymphoma, systemic malignancy, hypothyroidism, diabetes mellitus, and @DISEASE$.	has_symptom
+6b3422950d76823ed9f5e166317fbd870d71b611	The available data clearly highlight such presentations as a distinct clinical entity characterized by early onset of gastrointestinal tumors, hematologic malignancies as well as features of neurofibromatosis (easily remembered by the acronym ;CoLoN'; Colon tumors or/and @PHENOTYPICFEATURE$/Lymphoma or/and @DISEASE$ features).	has_symptom
+821053366e76771758bd9b307f2cd7fb1ea0f20b	The available data clearly highlight such presentations as a distinct clinical entity characterized by early onset of gastrointestinal tumors, hematologic malignancies as well as features of @DISEASE$ (easily remembered by the acronym ;CoLoN'; Colon tumors or/and @PHENOTYPICFEATURE$/Lymphoma or/and Neurofibromatosis features).	has_symptom
+c6f98b8b6e1b78ff9b62aec9cc5739202ffc5dc0	The differential diagnosis includes orbital pseudotumour, metastasis, @PHENOTYPICFEATURE$, lymphoma, Wegener's granulomatosis, and @DISEASE$.	has_symptom
+e2703e15a5fb967067d81e815337cefb92550d2c	@DISEASE$ and childhood @PHENOTYPICFEATURE$/lymphoma: a population-based UKCCSG study.	has_symptom
+dc44b70dabb5e6f7d6addcf1ee5e0260d7e3f800	Physical examination revealed clinical feature of leukonychia totalis and the presence of @PHENOTYPICFEATURE$, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generations of this family were affected with variable presentations of @DISEASE$ in male and female; and autosomal dominant pattern of inheritance.	has_symptom
+bef9b4f40b63d4846a768f4eeea951bb69cd1520	Physical examination revealed clinical feature of leukonychia totalis and the presence of @PHENOTYPICFEATURE$, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of @DISEASE$).Three consecutive generations of this family were affected with variable presentations of Bart Pumphrey syndrome in male and female; and autosomal dominant pattern of inheritance.	has_symptom
+f053433912cbdf927d0473a3036723a95bfe3d0e	@DISEASE$ (BPS) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability.	has_symptom
+f32855efcaa8b49835d7621b36481c943c55047f	@DISEASE$ (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, @PHENOTYPICFEATURE$, knuckle pads, and leukonychia, which show considerable phenotypic variability.	false
+aff9e6fea5559e1073340e75639a7e79eb9c2d86	Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, knuckle pads, and leukonychia, which show considerable phenotypic variability.	false
+45148acd98a37f1137cd6806a78e2baec0c05e9c	It is possible that some anatomical and physiological factors play a leading role in both @DISEASE$ and ocular @PHENOTYPICFEATURE$.	has_symptom
+20361d34b73ba386c856f4f40dae2af5da52b0c0	All six displayed a novel phenotype of proximal tubulopathy, characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not seen in @DISEASE$: nephrocalcinosis, renal impairment, @PHENOTYPICFEATURE$ with relative hypocalcaemia, and hypermagnesaemia.	has_symptom
+e482c9d877dd7d2603693f0d560ab4dbe2170088	All six displayed a novel phenotype of proximal tubulopathy, characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not seen in @DISEASE$: nephrocalcinosis, renal impairment, hypercalciuria with relative @PHENOTYPICFEATURE$, and hypermagnesaemia.	false
+0464269a33f394e87f3b471520028fd48e5e103f	All six displayed a novel phenotype of proximal tubulopathy, characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not seen in Fanconi syndrome: nephrocalcinosis, renal impairment, @DISEASE$ with relative @PHENOTYPICFEATURE$, and hypermagnesaemia.	false
+f16d3c51ae49fe0507794f1510779c7950cc5d5d	All six displayed a novel phenotype of proximal tubulopathy, characterised by generalised aminoaciduria, low molecular weight @DISEASE$, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not seen in Fanconi syndrome: nephrocalcinosis, renal impairment, hypercalciuria with relative @PHENOTYPICFEATURE$, and hypermagnesaemia.	false
+af46a0e9a2a6f34117ca0d9a908239d64515f54d	Dent disease, an X-linked familial renal tubular disorder, is a form of @DISEASE$ associated with proteinuria, @PHENOTYPICFEATURE$, nephrocalcinosis, kidney stones, and eventual renal failure.	has_symptom
+c836c9010b6cfcc4f381ca28e11bf00eef8a807f	Dent disease, an X-linked familial @DISEASE$, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual @PHENOTYPICFEATURE$.	false
+10bc103c4714e3525407c7868b007c9d6666f7e2	Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with @DISEASE$, hypercalciuria, nephrocalcinosis, kidney stones, and eventual @PHENOTYPICFEATURE$.	false
+3c296f13129c6ae42a1ec438dabb970b0c692185	Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+b81e9a2670af213f810cd6173f2698d945da35bd	Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, @DISEASE$, nephrocalcinosis, kidney stones, and eventual @PHENOTYPICFEATURE$.	false
+40d6542a07e8afc8c6ad3a8aa95deba611e54931	Dent disease, an X-linked familial renal tubular disorder, is a form of @DISEASE$ associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual @PHENOTYPICFEATURE$.	false
+b10dabc48f7daacdf7bf65cdb706e4f69c5000a2	This may be the first autopsy report of @DISEASE$, which is characterized by microcephaly, brain malformations, @PHENOTYPICFEATURE$, and hypogenitalism, although the case lacked agenesis of the corpus callosum.	has_symptom
+242a810f28385aca7c8a1b8128e0e6b4cf925b65	This may be the first autopsy report of @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, brain malformations, optic atrophy, and hypogenitalism, although the case lacked agenesis of the corpus callosum.	false
+b73dabaf3614ee9cd494d78cb946c71a58c97925	This may be the first autopsy report of Micro syndrome, which is characterized by @PHENOTYPICFEATURE$, brain malformations, @DISEASE$, and hypogenitalism, although the case lacked agenesis of the corpus callosum.	false
+a15632efea705e7e41e4b1451dee5e825fb5dfc1	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	has_symptom
+ccf8375c5474288d5cba337eb01e074eedd3aea9	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+b808dc1465567874a34342cff4f91e6f52a33577	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+f2ef282f1ec4956b5bcaf7f097a1a2b99c3c3be7	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+07fd0f86cf2e435faf1604d9c38ef209b9e01569	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+f0e5dd178855d24b7170aeb5b7af87367330d7ff	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+d99d0057ae3fb8963efff1794ad919989276985a	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+229336769bc96c19e42a1bbabbb4a1a533fc4650	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+6e044c158c37407bbc0710a4e6bb7fc2fadf6752	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, @DISEASE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+eac02aceeeccf399c4b23ecbc2f545083d99dda4	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @DISEASE$, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+96ecfef978fffdfd49d36da7e34c3c9f207dd8d5	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+2b46380bfcafeff4d732010217091ce140b4e0a4	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+9bf32cb843db1fb499457d4fdbe7fdb194d85654	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+e661a208b5c34c13f3e6f2d6a8e72dd49b1fbfe1	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	false
+ec27519991ae3cd66b0e1adf4c613adae4198a89	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+7a7f2eb73fd610caf55fa833d7ff5e0e5c905b96	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @DISEASE$, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+ba240724b61fcd031e890f3c37c7ee21fcc08e6f	@DISEASE$ (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, microcephaly, severely delayed motor and intellectual development, microcornea, congenital cataracts, @PHENOTYPICFEATURE$, and hypogonadism.	has_symptom
+2ddbc946142d7e31ab06c3065ca1ff48fc763de5	Warburg Micro syndrome (WARBM) is a rare @DISEASE$ characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, severely delayed motor and intellectual development, microcornea, congenital cataracts, optic atrophy, and hypogonadism.	false
+67b0658a7effaffef78d46fde5273b6022d68cef	@DISEASE$ (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, severely delayed motor and intellectual development, microcornea, congenital cataracts, optic atrophy, and hypogonadism.	false
+2e4ec100d42bd2f86535611bd01efac60234632c	Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, severely delayed motor and intellectual development, microcornea, congenital cataracts, @DISEASE$, and hypogonadism.	false
+0d31201a9e4e50bf7f34fae916d0f7f4aea4dbbb	Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, severely delayed motor and intellectual development, microcornea, congenital @DISEASE$, optic atrophy, and hypogonadism.	false
+56863179b5d61a700ce0891e5f95821676081c39	Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation, @PHENOTYPICFEATURE$, severely delayed motor and intellectual development, microcornea, congenital cataracts, optic atrophy, and @DISEASE$.	false
+9c442c423a6bdd8cc0bfbcb6a0d5629abea4f8c8	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, @PHENOTYPICFEATURE$ and central nervous system malformations.	has_symptom
+baa5ded6bf31b1bc9806380abba468c44095eed0	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital @DISEASE$, optic atrophy and central nervous system malformations.	false
+8d3cc04177890a8590e66b629371e83412180ab8	Warburg-Micro syndrome (WARBM) is an autosomal recessive @DISEASE$ characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+d926af9f0da8bce956553f7e75047ef98fb898bf	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and @DISEASE$.	false
+1b49ee9dbf61cc70a500f0b778e9946505d8dd3d	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, @DISEASE$ and central nervous system malformations.	false
+95fe5b5e9c3a1635aa84e7c8fd532ee24a4078df	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+d314d534bca3d2d2e54372c196b5465eb16e8773	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, @DISEASE$ and central nervous system malformations.	false
+61ed603255b1baf22a886a4b667c3b91c4362665	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and @DISEASE$.	false
+06d73ea18533316cbc81a7c25a55a5bc61281513	@DISEASE$ (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+6c2728ab25fe88312c6fdcdeb18f4214e149409c	Warburg-Micro syndrome (WARBM) is an autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations.	false
+dc55a898ba9051435a047013fbcb35dc0c6c20fe	Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia, microcornea, congenital @DISEASE$, optic atrophy and central nervous system malformations.	false
+91a62c2bb18219ddd42522e637c3c8fb0f9b4594	Patients with @DISEASE$ manifest frontal cortical dysplasia, hypoplasia of the corpus callosum, cortical blindness with @PHENOTYPICFEATURE$, profound mental retardation, and progressive joint contractures with growth failure.	has_symptom
+d90ce2640d30be2a24b98f3bb93af79e7711f74c	Patients with MICRO syndrome manifest frontal @DISEASE$, hypoplasia of the corpus callosum, cortical blindness with optic atrophy, profound mental retardation, and progressive @PHENOTYPICFEATURE$ with growth failure.	false
+ed4a71ab683aa9d7f1a5df4ba8a74960276de09c	Patients with @DISEASE$ manifest frontal cortical dysplasia, hypoplasia of the corpus callosum, cortical blindness with optic atrophy, profound mental retardation, and progressive @PHENOTYPICFEATURE$ with growth failure.	false
+d2cfddc7509b4faf68cbaee7e0f0a980bceb19b9	Patients with MICRO syndrome manifest frontal cortical dysplasia, hypoplasia of the corpus callosum, cortical blindness with @DISEASE$, profound mental retardation, and progressive @PHENOTYPICFEATURE$ with growth failure.	false
+6b8f5d8bea4b05724a516040bdef6273f5174612	Microcephaly, microphthalmia, congenital cataract, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	has_symptom
+e23445a8a20d8cfd06922ddbee48a5d2c9f0f27c	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, @DISEASE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+3e39c8ed814dfe6f9b043a8c9a00e901a6b99419	Microcephaly, microphthalmia, congenital cataract, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	false
+1eead4c408e39011ed1e9b403be348d847033695	Microcephaly, microphthalmia, congenital cataract, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and @DISEASE$: a second family with micro syndrome or a new syndrome?	false
+9d21eda3d8dca84bcdd6bd3c9775989b9d6792e3	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and @DISEASE$: a second family with micro syndrome or a new syndrome?	false
+f93d2d16a34423ce042b67a59a61076270df3110	Microcephaly, @PHENOTYPICFEATURE$, congenital @DISEASE$, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+5353c4eb31e7e6edae66a88e2a53c5e337c984f2	Microcephaly, microphthalmia, congenital @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+463fcca277d9839f2ed3b60cd1319d9c20d52ea9	Microcephaly, microphthalmia, congenital cataract, @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+3080fd7dd79447027b77c5e6b1bc44158cb57f8a	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	false
+459b93f6563b09a949a0863a82eaeddaa86a421d	Control liver specimens were from two patients with choledochal cysts, three patients with neonatal @PHENOTYPICFEATURE$, and three patients with @DISEASE$.	has_symptom
+6d41a4c59054d621e1b0cc280fb8ecdfc92f8482	The HEF values in different causes of neonatal cholestasis were compared: extrahepatic biliary atresia, neonatal @PHENOTYPICFEATURE$, and a miscellaneous category consisting of @DISEASE$, ischemic hepatitis, paucity of bile ducts, and others.	has_symptom
+a7b2ed0ec7f60640d9b9a02a50d44f7c16e80a86	The HEF values in different causes of neonatal cholestasis were compared: extrahepatic @PHENOTYPICFEATURE$, neonatal @DISEASE$, and a miscellaneous category consisting of alpha1-antitrypsin deficiency, ischemic hepatitis, paucity of bile ducts, and others.	false
+5faa496c2be6ef63dd9efe325886c9d6ecec9cf9	The HEF values in different causes of neonatal cholestasis were compared: extrahepatic @PHENOTYPICFEATURE$, neonatal hepatitis, and a miscellaneous category consisting of @DISEASE$, ischemic hepatitis, paucity of bile ducts, and others.	false
+a373176c1a2ebc8e60be353d1430bf3ae3ced7df	The HEF values in different causes of neonatal cholestasis were compared: extrahepatic @PHENOTYPICFEATURE$, neonatal hepatitis, and a miscellaneous category consisting of alpha1-antitrypsin deficiency, ischemic @DISEASE$, paucity of bile ducts, and others.	false
+bc6d934938f48c21afa7054834fbff1b43bbe83c	Because of the suggestion that neonatal @PHENOTYPICFEATURE$, biliary atresia and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as alpha 1-antitrypsin deficiency are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, @DISEASE$, and renal disorders.	has_symptom
+a041e6f542bd352cdecdcf44e30d090d61520fbd	Because of the suggestion that neonatal @PHENOTYPICFEATURE$, biliary atresia and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as @DISEASE$ are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, alpha 1-antitrypsin deficiency, and renal disorders.	has_symptom
+0547c298d9b02fe5dcdbc96de16df7256db0523b	Because of the suggestion that neonatal hepatitis, @PHENOTYPICFEATURE$ and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as @DISEASE$ are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, alpha 1-antitrypsin deficiency, and renal disorders.	false
+a83f22afa89eeed3a898a66a0cfeaa4d57cb742f	Because of the suggestion that neonatal hepatitis, @PHENOTYPICFEATURE$ and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as alpha 1-antitrypsin deficiency are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, alpha 1-antitrypsin deficiency, and @DISEASE$.	false
+b228bacfa6e6c2a868b3afc70e51930450d54033	Because of the suggestion that neonatal @DISEASE$, @PHENOTYPICFEATURE$ and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as alpha 1-antitrypsin deficiency are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, alpha 1-antitrypsin deficiency, and renal disorders.	false
+61abea0c6629689dd8dd35e62f9417d545187375	Because of the suggestion that neonatal hepatitis, @PHENOTYPICFEATURE$ and choledochal cyst may all result from infantile obstructive cholangiopathy, with the precise outcome depending on whether other conditions such as alpha 1-antitrypsin deficiency are also present, we have determined HBsAg in 166 children with a variety of diseases, among them Reye's syndrome, @DISEASE$, and renal disorders.	false
+6d069623ad50e8d84b97ed0092e583d21f4034b8	Final diagnoses included extrahepatic biliary atresia, neonatal @PHENOTYPICFEATURE$, cystic fibrosis, metabolic liver disease, @DISEASE$, bile duct stenosis, Alagille syndrome (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	has_symptom
+d650f8584f3e02ff4dab952a7624c67c89a11376	Final diagnoses included extrahepatic @PHENOTYPICFEATURE$, neonatal hepatitis, cystic fibrosis, metabolic @DISEASE$, alpha 1-antitrypsin deficiency, bile duct stenosis, Alagille syndrome (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+94393e1bb0e3239eb1b014cf4dd268f54d382235	Final diagnoses included extrahepatic @PHENOTYPICFEATURE$, neonatal hepatitis, cystic fibrosis, metabolic liver disease, @DISEASE$, bile duct stenosis, Alagille syndrome (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+ba6ecf741e81c6105c0bc6959cf74c34de7814aa	Final diagnoses included extrahepatic @PHENOTYPICFEATURE$, neonatal @DISEASE$, cystic fibrosis, metabolic liver disease, alpha 1-antitrypsin deficiency, bile duct stenosis, Alagille syndrome (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+3ebafa721c83f1cec217fedbf8609c216c00f9fa	Final diagnoses included extrahepatic @PHENOTYPICFEATURE$, neonatal hepatitis, cystic fibrosis, metabolic liver disease, alpha 1-antitrypsin deficiency, bile duct stenosis, Alagille syndrome (@DISEASE$), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+bb6bd9f8812d26bda7fcc59a71945dad175d5642	Final diagnoses included extrahepatic @PHENOTYPICFEATURE$, neonatal hepatitis, cystic fibrosis, metabolic liver disease, alpha 1-antitrypsin deficiency, bile duct stenosis, @DISEASE$ (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+35cef1b2d01460622c8c74d27d193c14632ab378	The clinical importance of AAT is emphasized in persons with inherited @DISEASE$ who exhibit high risk of developing early onset pulmonary emphysema, neonatal @PHENOTYPICFEATURE$, liver cirrhosis, which may appear at any age, and in rare cases panniculitis and vasculitis.	has_symptom
+07377973ed01bbd6f487e7c46197e54638ae9541	Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal @PHENOTYPICFEATURE$ (nine patients), biliary atresia (eight patients), @DISEASE$ (two patients), Alagille's syndrome (two patients), and cystic fibrosis (one patient).	has_symptom
+639d0f3f704a286ce9798064076f7db09e7f8c01	Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal @DISEASE$ (nine patients), @PHENOTYPICFEATURE$ (eight patients), alpha-1-antitrypsin deficiency (two patients), Alagille's syndrome (two patients), and cystic fibrosis (one patient).	false
+267d3ddfa31b0eb71cfdb3181c572d299f672fb6	Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal hepatitis (nine patients), @PHENOTYPICFEATURE$ (eight patients), @DISEASE$ (two patients), Alagille's syndrome (two patients), and cystic fibrosis (one patient).	false
+abc36e27bf544cbcce531b70b6c7c0c136dbec72	Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal hepatitis (nine patients), @PHENOTYPICFEATURE$ (eight patients), alpha-1-antitrypsin deficiency (two patients), Alagille's syndrome (two patients), and @DISEASE$ (one patient).	false
+c4322f873d52229a9ec86b1cc508e8cfb601eb9c	Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal hepatitis (nine patients), @PHENOTYPICFEATURE$ (eight patients), alpha-1-antitrypsin deficiency (two patients), Alagille's @DISEASE$ (two patients), and cystic fibrosis (one patient).	false
+2c4f6871c32085f9a23a6f46c648ef274419e2ce	Twelve patients had neonatal @PHENOTYPICFEATURE$, 12 biliary atresia, and one each Alagille syndrome and @DISEASE$ liver disease.	has_symptom
+85eb80deeb0e6454d09bbd195a37332538f47efd	Twelve patients had neonatal @DISEASE$, 12 @PHENOTYPICFEATURE$, and one each Alagille syndrome and alpha 1-antitrypsin deficiency liver disease.	false
+d435768956eb1aed94e65e8845039cccfa7b6674	Twelve patients had neonatal hepatitis, 12 @PHENOTYPICFEATURE$, and one each Alagille syndrome and @DISEASE$ liver disease.	false
+83a4634e2ce01ada3b7116cdcc95dfb590183ffa	Twelve patients had neonatal hepatitis, 12 @PHENOTYPICFEATURE$, and one each @DISEASE$ and alpha 1-antitrypsin deficiency liver disease.	false
+5bc515eea968bbe659a85f5015c199daf425ab4b	Twelve patients had neonatal hepatitis, 12 @PHENOTYPICFEATURE$, and one each Alagille syndrome and alpha 1-antitrypsin deficiency @DISEASE$.	false
+9dc8f714dcd6051683911e6f96467dfe285258cb	The primary disease in the 25 children was portal vein thrombosis (11 patients), biliary atresia (nine patients), and hepatic cirrhosis from cystic fibrosis (three patients), @DISEASE$ (one patient), and neonatal @PHENOTYPICFEATURE$ (one patient).	has_symptom
+152bc532979424f87293db80ac1a8bd61a39d94e	The primary disease in the 25 children was portal vein thrombosis (11 patients), @PHENOTYPICFEATURE$ (nine patients), and @DISEASE$ cirrhosis from cystic fibrosis (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal hepatitis (one patient).	false
+4c2dd90c3663335cd0c6e608085ef8ef31a1281d	The primary disease in the 25 children was @DISEASE$ (11 patients), @PHENOTYPICFEATURE$ (nine patients), and hepatic cirrhosis from cystic fibrosis (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal hepatitis (one patient).	false
+5b0448e8dc0da176fa53abdb9fdbd2565b622079	The primary disease in the 25 children was portal vein thrombosis (11 patients), @PHENOTYPICFEATURE$ (nine patients), and hepatic cirrhosis from cystic fibrosis (three patients), @DISEASE$ (one patient), and neonatal hepatitis (one patient).	false
+d4e4aaaca010cbcbabb53c5bad89072c94631408	The primary disease in the 25 children was portal vein thrombosis (11 patients), @PHENOTYPICFEATURE$ (nine patients), and hepatic cirrhosis from cystic fibrosis (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal @DISEASE$ (one patient).	false
+f5c34536afd0e8808ac5c839f601aceff31c53a9	The primary disease in the 25 children was portal vein thrombosis (11 patients), @PHENOTYPICFEATURE$ (nine patients), and hepatic cirrhosis from @DISEASE$ (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal hepatitis (one patient).	false
+e8bace16b3447b537f2076c0b2579b2fd2d6fccb	The primary disease in the 25 children was portal vein thrombosis (11 patients), @PHENOTYPICFEATURE$ (nine patients), and hepatic @DISEASE$ from cystic fibrosis (three patients), alpha 1-antitrypsin deficiency (one patient), and neonatal hepatitis (one patient).	false
+0dbdb1257dee57ce249129f5d556e3564ec8db07	The indications were primary sclerosing cholangitis (PSC, n?=?4), congenital hepatic fibrosis (CHF, n?=?2), @DISEASE$ (A-1 ATD, n?=?2), progressive familial intrahepatic cholestasis (PFIC, n?=?2), cystic fibrosis (n?=?1), primary biliary cirrhosis (PBC, n?=?1), neonatal @PHENOTYPICFEATURE$ (n?=?1), embryonal sarcoma (n?=?1), Caroli disease (n?=?1), hepatocellular carcinoma (HCC, n?=?1), and chronic rejection after liver transplantations for PSC (n?=?1).	has_symptom
+9a50ba8b0db1faa8df96c517cc0cde530fd2efa7	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (biliary atresia, @DISEASE$, Wilson's disease, and neonatal @PHENOTYPICFEATURE$), and the frequency of end-stage liver disease in each disorder.	has_symptom
+22cb915607986126c637c2a9c9bc8040c79e111f	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, @DISEASE$, Wilson's disease, and neonatal hepatitis), and the frequency of end-stage liver disease in each disorder.	false
+2d398f074a4cc60a188c65aabc69bcee457577d6	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of @DISEASE$ in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, Wilson's disease, and neonatal hepatitis), and the frequency of end-stage liver disease in each disorder.	false
+9651e7bbf3b085358252a83189ec7e88757f619d	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, @DISEASE$, and neonatal hepatitis), and the frequency of end-stage liver disease in each disorder.	false
+1183d57b234afc40dc6a0fc6b8f2d80d456f9e49	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, Wilson's disease, and neonatal hepatitis), and the frequency of end-stage @DISEASE$ in each disorder.	false
+1d8363115501fb30468f3a5411ba8fa24d53d7c8	Based upon the annual birth rate in the United States of 3.1 million, the incidence of the most prominent causes of liver disease in children (@PHENOTYPICFEATURE$, alpha 1-antitrypsin deficiency, Wilson's disease, and neonatal @DISEASE$), and the frequency of end-stage liver disease in each disorder.	false
+36482b41d2afd87ba888ae2cc312e92b68087cb1	@PHENOTYPICFEATURE$ (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and @DISEASE$ syndromes.	has_symptom
+a7867d4c1db03f2419a063b0dca8e6066c79d339	A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage?gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lysine substitution at amino acid 82 (p.E82K) in LMNA, a p.F182L in KCNQ4 (a mutation associated with pathogenic @PHENOTYPICFEATURE$) and p.G426S in EYA1 (associated with Branchiootorenal syndrome 1 and @DISEASE$ pathogenesis).	has_symptom
+eac00cb8e05ab95909b352d1a3b0e01aee55115c	A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage?gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lysine substitution at amino acid 82 (p.E82K) in LMNA, a p.F182L in KCNQ4 (a mutation associated with pathogenic @PHENOTYPICFEATURE$) and p.G426S in EYA1 (associated with @DISEASE$ and Branchiootic syndrome 1 pathogenesis).	has_symptom
+7b28e32732c1f0c564fad6e00513cb803619b19e	@DISEASE$ @PHENOTYPICFEATURE$ in Oklahoma, 1982-1987.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+72cd6e1cfc9ce89dceca4e39ec19b38fb935bd10	@DISEASE$ @PHENOTYPICFEATURE$ in urban children.	has_symptom
+0723a5713747349db15c5ccb9a9b8ea1a811470d	@DISEASE$ @PHENOTYPICFEATURE$ in Washington, DC.	has_symptom
+f5f22dd10cf8d0c1d13d2724bbb499a6b575851b	On chest radiography, @DISEASE$ @PHENOTYPICFEATURE$ is often the presenting finding, which may demonstrate bilateral or lobar infiltrates.	has_symptom
+8a8b8f4451ecc5711d7d4dc28148f477d5c40bc1	We report our experience with a 14-year-old male adolescent with @DISEASE$ who presented with atypical @PHENOTYPICFEATURE$ and possible infective endocarditis.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+e4d5eb015e653eed380b3cd02751e8e8094f739a	@DISEASE$ is an infective disease which can become endemic in Spain and that should be considered by clinicians, particularly when unilateral enlarged lymph nodes, prolonged febrile syndromes, pharyngitis with negative culture, poor response to beta-lactams and atypical @PHENOTYPICFEATURE$ are present.	has_symptom
+51b61b76af664b96b66b39ac2f479f403ecd1147	Tularemia @PHENOTYPICFEATURE$ may complicate the various clinical presentations of @DISEASE$, or present as an uncommon zoonosis.	has_symptom
+8427c2ab109c329356c237f6e0c4c8d1a7dcbb46	@DISEASE$ @PHENOTYPICFEATURE$ may complicate the various clinical presentations of tularemia, or present as an uncommon zoonosis.	has_symptom
+9762ae8ffcaa824d1d5785ce3e4d65f26c9ec551	This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, @DISEASE$ caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz @PHENOTYPICFEATURE$ caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1.	has_symptom
+769e513434d0c381b4a9545516fabf447d87c323	This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, @DISEASE$ caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, @PHENOTYPICFEATURE$ Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1.	has_symptom
+8bd371d28369cea41fb127e4857b534e1b12a662	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/@PHENOTYPICFEATURE$, and cardiac defect) (Spear syndrome, @DISEASE$): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	has_symptom
+670c437c142c97fc1fee1e3ad2d761cad77ab7e5	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, @PHENOTYPICFEATURE$/@DISEASE$, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+635f04911373411936d27161d3a3b96ca9da6923	The PDAC @DISEASE$ (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, @PHENOTYPICFEATURE$/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+881283aeab5978891bba92da8f9293e34a9f975d	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, @PHENOTYPICFEATURE$/microphthalmia, and cardiac defect) (Spear syndrome, @DISEASE$): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+fd578c865b86c7e9e3f24598f772e428b22f44f6	The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, @PHENOTYPICFEATURE$/microphthalmia, and cardiac defect) (Spear @DISEASE$, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.	false
+8c4f0c01cac9dca8d9f572cc541dc020dc3c4a46	Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with @DISEASE$ and anophthalmia/@PHENOTYPICFEATURE$ (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease.	has_symptom
+3e7070f9690be6677ad1abfbfea72033ec18298a	The diagnosis of @DISEASE$ should be considered in all fetuses with @PHENOTYPICFEATURE$/anophthalmia.	has_symptom
+befd973742af1be13bd2ce00a512387e23cc1c3c	Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with @DISEASE$ in a context of severe @PHENOTYPICFEATURE$, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation.	has_symptom
+583ae18992d13cc16e0a187e61075044e05f377c	Morquio syndrome (@DISEASE$) is a hereditary lysosomal storage disease characterized by dwarfism, spondyloepiphyseal and @PHENOTYPICFEATURE$, corneal opacification, and normal intelligence.	has_symptom
+21adf52f6b140bb3694fe389671a06ad42ab8c65	@DISEASE$ (mucopolysaccharidosis IV) is a hereditary lysosomal storage disease characterized by dwarfism, spondyloepiphyseal and @PHENOTYPICFEATURE$, corneal opacification, and normal intelligence.	has_symptom
+70e97bef75401f194c3d122e14fa800e4b451a7b	@DISEASE$ or MPS IVA is a rare type of lysosomal storage disease associated with highly specific @PHENOTYPICFEATURE$.	has_symptom
+ec176292c834dc9b831782d6148bcfeab7bf21b5	The @DISEASE$ is characterized by a specific pattern of platyspondylia, corneal opacities, keratosulfate excretion in the urine, and @PHENOTYPICFEATURE$.	has_symptom
+daacb8d00ceb9e789333f8e20c76a848efcbe912	The @DISEASE$ is characterized by a specific pattern of platyspondylia, @PHENOTYPICFEATURE$, keratosulfate excretion in the urine, and dental abnormalities.	false
+8a6f60eb3e9097d363d073154ca905ec8dd57e5b	The Morquio syndrome is characterized by a specific pattern of platyspondylia, @PHENOTYPICFEATURE$, keratosulfate excretion in the urine, and @DISEASE$.	false
+845dea5e5ebbde609fa0177976e2609b86340c64	The @DISEASE$ enzyme complex causes congenital lactic acidemia and devastating @PHENOTYPICFEATURE$ in newborns and children.	has_symptom
+7943740742e3c3ca99fc57f01136dcecbec06f1f	Results suggested that there was no apparent relationship between a pituitary tumor and development of @PHENOTYPICFEATURE$ in dogs with @DISEASE$.	has_symptom
+c6d40cd2a5ae6dd7569d702613b6e0649fdb667f	In patients with partial @DISEASE$, cerebellar ataxia has been the most prominent and sometimes the only @PHENOTYPICFEATURE$.	has_symptom
+164ff7329eaf7c219d298fe44394f6df6a7e23f4	In patients with partial deficiencies of pyruvate dehydrogenase, @PHENOTYPICFEATURE$ has been the most prominent and sometimes the only @DISEASE$.	false
+1765abe36c5c822c79ae3730193960b92f322cb0	In patients with partial @DISEASE$, @PHENOTYPICFEATURE$ has been the most prominent and sometimes the only neurologic abnormality.	false
+c69ea3c25a83239356d86ce23c88a7ea19da39ee	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, @PHENOTYPICFEATURE$ and peripheral neuropathy in adulthood.	has_symptom
+b6930cf9ca003331255e0c244c0fe31deb6bb2da	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of @DISEASE$ with @PHENOTYPICFEATURE$, dysarthria, optic atrophy and peripheral neuropathy in adulthood.	false
+0787fa69d57ae4750de8c0b31d7cb7fc0a62946b	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, @DISEASE$ and @PHENOTYPICFEATURE$ in adulthood.	false
+07ee7b3c65f04a415174ca24f27bdc3597b76ce3	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of @DISEASE$ with mental retardation, dysarthria, optic atrophy and @PHENOTYPICFEATURE$ in adulthood.	false
+9f9f9c1f89cd15ae7de3fe6a36375162e8303b59	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with mental retardation, dysarthria, optic atrophy and @PHENOTYPICFEATURE$ in adulthood.	false
+1f731e234166a26c11210e0bf53da43983b4fb08	We describe three siblings of a consanguineous family manifesting the typical infantile-onset @DISEASE$-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @PHENOTYPICFEATURE$, dysarthria, optic atrophy and peripheral neuropathy in adulthood.	false
+d557c1d8137ae5204bbccc50ddf3fff4b926a3ad	We describe three siblings of a consanguineous family manifesting the typical infantile-onset Pelizaeus-Merzbacher disease-like phenotype slowly evolving into a form of complicated hereditary spastic paraplegia with @PHENOTYPICFEATURE$, dysarthria, @DISEASE$ and peripheral neuropathy in adulthood.	false
+013e14a8056d38de93501f93c595a72e12f38769	These findings suggest that expert opinions and practices related to diagnosing and managing @DISEASE$ patients differ among @PHENOTYPICFEATURE$ neurologists.	has_symptom
+41ec26bada0a62269e4d47e29b2747efe9dbcc86	Sixteen cases of functional (psychogenic) pediatric @PHENOTYPICFEATURE$ (@DISEASE$) have been analyzed.	has_symptom
+982c088f131f218b31a05cdafdc91fddaf225721	Psychogenic movement disorders (@DISEASE$) represent a diagnostically challenging group of patients in @PHENOTYPICFEATURE$.	has_symptom
+ce8c3c8394029419ddeac0bbd88d39c4d560e325	Hemifacial spasm (HFS) is one of the most common presentations in patients with cranial psychogenic (functional) @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+8c8498a9372d37cdc41454124a859ca3b425ff87	The diagnosis of a @DISEASE$ depends on not just ruling out an organic @PHENOTYPICFEATURE$, but moreover, recognizing features from the history and examination that are inconsistent or incongruous with an organic movement disorder.	has_symptom
+4558c9c2e15de80058cef699df068d069b78b4c6	The diagnosis of a @DISEASE$ depends on not just ruling out an organic movement disorder, but moreover, recognizing features from the history and examination that are inconsistent or incongruous with an organic @PHENOTYPICFEATURE$.	has_symptom
+32666dccddbf0d6546fc079d8bb496dd6df78d91	To study interrater agreement, three @PHENOTYPICFEATURE$ neurologists independently rated 88 videotapes of @DISEASE$ patients.	has_symptom
+b766365cd2da33bf2d2b683e286541c611b41695	In recent years there has been a growing interest towards pediatric @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+ce8b2ca0d01f0d588322daeff10c22e43fcd35a9	While clinical acumen of a trained @PHENOTYPICFEATURE$ specialist may be sufficient to diagnose most @DISEASE$, there are clinical situations where electrophysiological tests are required either to rule out an organic movement disorder or even diagnose a PMD.	has_symptom
+c094efe21027e7345daeb4bdb490e95d4f692db8	While clinical acumen of a trained movement disorder specialist may be sufficient to diagnose most PMD, there are clinical situations where electrophysiological tests are required either to rule out an organic @PHENOTYPICFEATURE$ or even diagnose a @DISEASE$.	has_symptom
+5b74dd892583ab5a850cf3f5d535fad9bf4bbde2	While clinical acumen of a trained movement disorder specialist may be sufficient to diagnose most @DISEASE$, there are clinical situations where electrophysiological tests are required either to rule out an organic @PHENOTYPICFEATURE$ or even diagnose a PMD.	has_symptom
+00c59f4d681f4022e0a5da3c35c1242cfd5967c9	While clinical acumen of a trained @PHENOTYPICFEATURE$ specialist may be sufficient to diagnose most PMD, there are clinical situations where electrophysiological tests are required either to rule out an organic movement disorder or even diagnose a @DISEASE$.	has_symptom
+0b5b8ceeda1abae26d0bccc3789ab21b117acbe7	Eight @PHENOTYPICFEATURE$ and six general neurologists rated 14 patients diagnosed with @DISEASE$ and 14 patients diagnosed with organic movement disorders.	has_symptom
+273f767e261deaaa3eb3a648ee292abfd09af9ab	Eight movement disorder and six general neurologists rated 14 patients diagnosed with @DISEASE$ and 14 patients diagnosed with organic @PHENOTYPICFEATURE$.	has_symptom
+1d00ab6353b4e48656517228580e425b24ac420d	We examined cognitive functioning using neuropsychological tests in 26 patients with clinically established psychogenic jerky @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+910bab0b887ec7111335c7cd96766b2674641f99	There have been severe orthopaedic complications associated with @DISEASE$, including vertebral compression, @PHENOTYPICFEATURE$, and pathological fracture of the long bones.	has_symptom
+c9679955f151f0941a8eff6378ea355329e977cd	Here we present a 36 year old male patient presenting with hip pain showing bilateral @PHENOTYPICFEATURE$ of femoral head with massive splenomegaly and on evaluation, showed mental retardation, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b @DISEASE$.	has_symptom
+e646ca96e3d515068b7fdc5d555c2892c648729b	Here we present a 36 year old male patient presenting with hip pain showing bilateral @DISEASE$ of femoral head with massive splenomegaly and on evaluation, showed mental retardation, @PHENOTYPICFEATURE$, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease.	false
+0b17fb59bca9220b83b76c45996a4139fad11eb8	Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed mental retardation, @PHENOTYPICFEATURE$, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b @DISEASE$.	false
+5b9b04e5f5294f52d42757b1b9b28fc866d6b058	Here we present a 36 year old male patient presenting with hip pain showing bilateral @DISEASE$ of femoral head with massive splenomegaly and on evaluation, showed @PHENOTYPICFEATURE$, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b Gaucher disease.	false
+09cdf209c328da81e6accf26a79e9e875fb91c8a	Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed @PHENOTYPICFEATURE$, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b @DISEASE$.	false
+0eb93c57e507a33476ad9992242641342a7c4349	@DISEASE$ presenting with vertebral compression fractures and vertebral @PHENOTYPICFEATURE$.	has_symptom
+dab6ed3f117117417cea8c8f31ca268ea3862b77	@DISEASE$ is an autosomal recessive disorder featuring total colour blindness, photophobia, @PHENOTYPICFEATURE$ and nystagmus.	has_symptom
+9574a2ca2de7be39e5afe99b033177a6ad9b20ee	@DISEASE$ is an autosomal recessive condition, characterised by @PHENOTYPICFEATURE$, impaired colour vision, photophobia and nystagmus.	has_symptom
+1ae7dfe39eb2865be46c974d5590f30027fb9f61	The infantile presentation of CISS, referred to as @DISEASE$ (CS), is characterized by facial muscular @PHENOTYPICFEATURE$ in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia.	has_symptom
+4cde89dae33226989c50c48ae0cc66f9ae65b72f	The @DISEASE$ in @PHENOTYPICFEATURE$ children in southern Africa.	has_symptom
+96c52794fd9bf32c4e296f8a7c498a645b569f62	A @PHENOTYPICFEATURE$ young person with @DISEASE$ is examined for basic cause of episodic vertiginous symptoms.	has_symptom
+05ed478b26d498ba1ab4e4c5dd6aabd5454eb692	Until now, including our case, only a few cases of @DISEASE$ with @PHENOTYPICFEATURE$ were studied roentgenologically.	has_symptom
+a1d1b27f823a9abb6922ff625734810e36849d50	The subjects had congenital deafness, idiopathic progressive sensorineural hearing loss, @DISEASE$, narrow internal auditory canal, or sudden @PHENOTYPICFEATURE$.	has_symptom
+b2449a4ebc2328cbd385caad4523bd0272b66e36	The subjects had @PHENOTYPICFEATURE$, idiopathic progressive sensorineural hearing loss, @DISEASE$, narrow internal auditory canal, or sudden deafness.	has_symptom
+c5e39722a7c7b7191081a39f82030de6c9d1f174	The subjects had congenital deafness, idiopathic progressive @PHENOTYPICFEATURE$, @DISEASE$, narrow internal auditory canal, or sudden deafness.	false
+5b978be3502da3dcc783ea284fc7a33103356f68	The subjects had congenital deafness, idiopathic progressive @PHENOTYPICFEATURE$, Waardenburg's syndrome, narrow internal auditory canal, or sudden @DISEASE$.	false
+d5e2fb2423fbb50641e9838f059221e870354225	The subjects had @DISEASE$, idiopathic progressive @PHENOTYPICFEATURE$, Waardenburg's syndrome, narrow internal auditory canal, or sudden deafness.	false
+4f8ff8a132314d7908852fea8cda1120df5d2f8f	To analyse the benefit of cochlear implantation in young deaf children with @DISEASE$ (WS) compared to a reference group of young @PHENOTYPICFEATURE$ children without additional disabilities.	has_symptom
+89f3a42c66cb18c16e854fbaea0f44452b8cfbc4	To analyse the benefit of cochlear implantation in young @PHENOTYPICFEATURE$ children with @DISEASE$ (WS) compared to a reference group of young deaf children without additional disabilities.	has_symptom
+bb18b618e6233ab0898f118d10953aedd985ba3f	@DISEASE$--inherited @PHENOTYPICFEATURE$ with pigmentary involvement.	has_symptom
+c3a6adb41e8ec5069ddfa3d33b5562fe482432fd	@DISEASE$ (WS) is a hereditary disorder that causes hypopigmentation and @PHENOTYPICFEATURE$.	has_symptom
+ffe59567dbee23f9b9b3538f0415d0c28d7429fe	Waardenburg syndrome (WS) is a hereditary disorder that causes @PHENOTYPICFEATURE$ and @DISEASE$.	false
+11a00508c6ea7e0e4b8e22e6547248247b8343df	@DISEASE$ (WS) is a hereditary disorder that causes @PHENOTYPICFEATURE$ and hearing impairment.	false
+adeecabbac5a6c1c16939f5ff5848d3f1acf1479	@DISEASE$ is a known autosomal dominant cause of @PHENOTYPICFEATURE$.	has_symptom
+ee3b157dbe3b0ba954872ccab1e4bb388c679360	@DISEASE$ accounts for between 2% and 5% of cases of @PHENOTYPICFEATURE$.	has_symptom
+73a0d9d52ef28ed5c8cd882df19ac8801942bad4	[Heterochromia iridis, @PHENOTYPICFEATURE$ and skin pigmentary abnormalities: @DISEASE$].	has_symptom
+4a79b1130c8c5bfbb0d75caa03ce77f41d4b516b	@DISEASE$ is a short limbed @PHENOTYPICFEATURE$ associated with impairments in host-defense.	has_symptom
+522e283ab0414881666c03189bdfb4f9b64b0bb5	@DISEASE$ (CHH) is a rare autosomal recessive disorder characterized by short-limbed @PHENOTYPICFEATURE$.	has_symptom
+b6050c7f06898c881067a16f7d965d1ab7062cc6	@DISEASE$ (CHH) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, sparse hair, and a variable degree of immunodeficiency.	has_symptom
+6a7ef1369d786eaf368ae72e38d456f5063902cc	@DISEASE$ (CHH) is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, sparse hair, and a variable degree of immunodeficiency.	false
+0cfa361120ce68aefb3efbb049e66a54c3a520e3	Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, sparse hair, and a variable degree of immunodeficiency.	false
+53b1d48c19aa915ad21d0d3c6db1d890d41cf54e	Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, sparse hair, and a variable degree of @DISEASE$.	false
+2c1e0a4edc53f5e061c1a9968d3f2a1e4729b016	We recently assigned the gene for an autosomal recessive @PHENOTYPICFEATURE$, @DISEASE$ (CHH), to 9p21-p13 in Finnish and Amish families.	has_symptom
+e32219dccc97ac4611ee58cf2aa476bc6656c3e8	Its mutations cause @DISEASE$ (CHH), an autosomal recessive @PHENOTYPICFEATURE$ with growth failure, immunodeficiency, and a high risk for malignancies.	has_symptom
+b9c028fd81f80678343118b52438fcc28e08737e	@DISEASE$ (CHH) is an autosomal recessive @PHENOTYPICFEATURE$ of unknown pathogenesis leading to short-limbed stature.	has_symptom
+a437b395cf1cfc71e922d09cb2b7288aedecef10	@DISEASE$ is a rare, autosomal recessive @PHENOTYPICFEATURE$, caused by mutations in the RMRP gene.	has_symptom
+11335b841c9b02fb5e2724b060b37d45245fa898	Anauxetic dysplasia (AAD, OMIM 607095) is a rare @PHENOTYPICFEATURE$ inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, @DISEASE$ (CHH).	has_symptom
+3f4c6392d20538043e14f0e1a4f8d5d06e3ffc32	@DISEASE$ (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of @PHENOTYPICFEATURE$ and immunodeficiency.	has_symptom
+ef6547b9eff2bad131bb2df8f79d56f7de05bd3e	In this case we describe a young patient who following a short history of @PHENOTYPICFEATURE$ and abdominal pain developed carpopedal spasm and distal parasthesia on a background of @DISEASE$.	has_symptom
+08fd45661f875cb46ca587dd14cd2436996f9479	@DISEASE$ is the most common renal tubulopathy, recently exhibiting a dramatic rise of incidence in Asia.A 50-year-old woman presented with @PHENOTYPICFEATURE$, fatigue and quadriparesis.	has_symptom
+ce14d6ea52a14e0a093956da0325f4af06ed10d8	The incidental finding in two patients of heterozygosity for the 250 kb recurrent deletion at the NPH1 locus, associated with autosomal recessive @DISEASE$, which was inherited from a healthy parent, highlights the fact that inherited aberrations might be disease-related even though not causal for @PHENOTYPICFEATURE$.	false
+ca6c0ce90a5a92e1c8742ae98985979622aeaec6	Besides XP, mutations in @DISEASE$ can cause another seemingly unrelated syndrome, trichothiodystrophy (TTD), characterized by sulfur-deficient brittle hair, ichthyosis, and physical and @PHENOTYPICFEATURE$.	has_symptom
+0cd916bbc91a16329d21f64d591de3bd7b39e214	DNA repair defects in @DISEASE$ are associated with two additional, quite different diseases; XP, a sun-sensitive and cancer-prone repair disorder, and Cockayne syndrome (CS), a photosensitive condition characterized by physical and @PHENOTYPICFEATURE$ and wizened facial appearance.	has_symptom
+fcc3982a07341469c27718a05ae75a6f3ae4065f	A 49-year-old white male presented with marked hypothermia, @PHENOTYPICFEATURE$, myokymia and increased urinary excretion of catecholamines four weeks after complete excision of a @DISEASE$.	has_symptom
+67908002ff840beeb92336cb1ee2f054d0990665	Acrodysostosis is characterized by a @DISEASE$ that is accompanied by @PHENOTYPICFEATURE$, midface hypoplasia, and developmental delay.	has_symptom
+56c78ddf167be4e114f4c49a47a45064c60107d7	Acrodysostosis is characterized by nasal hypoplasia, @DISEASE$, variable @PHENOTYPICFEATURE$, and intellectual impairment.	has_symptom
+7eef5fb82ac1b53fd9e91ffe7d996588b44203a3	Acrodysostosis is characterized by @PHENOTYPICFEATURE$, @DISEASE$, variable short stature, and intellectual impairment.	false
+81f94d435d2cb041e7e6e336b31f29e449b3a3df	Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5b6df5006e465feacd99e485d5f9443bba904fc8	Acrodysostosis is characterized by @PHENOTYPICFEATURE$, peripheral dysostosis, variable @DISEASE$, and intellectual impairment.	false
+8a0638fb648f2fc207a44b774a2768db5b6c3d8e	@DISEASE$ is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and @PHENOTYPICFEATURE$.	false
+f5996ac7165f298227d60532f8f22b2658b89854	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, peripheral dysostosis, variable short stature, and intellectual impairment.	false
+2d3b0b22a714213e0ef2d2affb0fd03ee8b9fba2	Acrodysostosis is characterized by nasal hypoplasia, @DISEASE$, variable short stature, and @PHENOTYPICFEATURE$.	false
+ed18b416782aa4165441e5c82aa6f066e053fda4	The features of their type of @DISEASE$ were short limbed @PHENOTYPICFEATURE$, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.	has_symptom
+3ab6e0bd990266bd5cd6255398f6e6e8e1055656	Acrodysostosis is an extremely rare disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+a8ea2b89f351d8bd927bdf7b1178498254f18460	Further work-up showed @PHENOTYPICFEATURE$ and hyperphosphaturia, hypouricemia and hyperuricosuria, and hyper aminoaciduria, consistent with @DISEASE$.	has_symptom
+a333a3024e682b2e9fb3984eb343494e806d544a	Retrieval of case reports was based on Pubmed, CNKI, Wan Fang and VIP databases using the key words adefovir dipivoxil, @PHENOTYPICFEATURE$, osteomalacia and @DISEASE$.	has_symptom
+dd70ad443a2b6119afc94d0fd6710d6354c5196d	Three yr after transplantation she developed renal @DISEASE$ with severe metabolic acidosis, @PHENOTYPICFEATURE$, glycosuria, and aminoaciduria.	has_symptom
+3c5b71a0ca8fde011e3194a8edcaa2aae6f97c52	Laboratory examinations revealed metabolic acidosis, hypouricemia, @PHENOTYPICFEATURE$, glycosuria, proteinuria and aminoaciduria, thus suggesting @DISEASE$.	has_symptom
+73616ea21087b290bf4a68ed1b34653857be9fe0	As the patient also had @PHENOTYPICFEATURE$, glucosuria and proteinuria @DISEASE$ (FS) was suspected.	has_symptom
+4fb738dd511c7dd2577b39eefbe40a1a6b3cf604	No evidence of aminoaciduria, glucosuria, hypokalemia, @PHENOTYPICFEATURE$, or hypouricemia indicative of the @DISEASE$ was detected during three to six months of observation.	has_symptom
+a8c4b9a1628d4563e14f3c5a4d6ee4cfec1420b9	No evidence of aminoaciduria, glucosuria, @PHENOTYPICFEATURE$, @DISEASE$, or hypouricemia indicative of the Fanconi syndrome was detected during three to six months of observation.	false
+fcddba9658f179eb5f11a78f2261a29664401d8b	No evidence of aminoaciduria, glucosuria, @PHENOTYPICFEATURE$, hypophosphatemia, or hypouricemia indicative of the @DISEASE$ was detected during three to six months of observation.	false
+3b9ff412299403dbcb60f15e8609e731acf7a1e7	More recently, he was noted to have features of @DISEASE$ with acidosis, @PHENOTYPICFEATURE$, hypokalemia, glucosuria, and nephrotic-range proteinuria.	has_symptom
+f979a5f5b0ce5f6db211570775ba63500fd3a79d	More recently, he was noted to have features of Fanconi syndrome with acidosis, hypophosphatemia, @PHENOTYPICFEATURE$, glucosuria, and nephrotic-range @DISEASE$.	false
+aedd2e6e0d3e634e4927477774261c590a8300ad	More recently, he was noted to have features of Fanconi syndrome with acidosis, @DISEASE$, @PHENOTYPICFEATURE$, glucosuria, and nephrotic-range proteinuria.	false
+f102e04a21af07a22899fd5befc35415b3ecf330	More recently, he was noted to have features of @DISEASE$ with acidosis, hypophosphatemia, @PHENOTYPICFEATURE$, glucosuria, and nephrotic-range proteinuria.	false
+4f5ab73e8e2d00d7e82b70f40bd941e7ad72e8fe	It is most likely that tributyl-tin oxide caused a secondary @DISEASE$ as defined by renal tubular disturbances represented by glucosuria, generalized amino aciduria, phosphaturia, and @PHENOTYPICFEATURE$.	has_symptom
+4c1d3deaf4c485004bddfc4dbe0dba195a70e2ba	Raised serum creatine, @PHENOTYPICFEATURE$, glycosuria and metabolic acidosis supported a diagnosis of @DISEASE$.	has_symptom
+c1ca5a7819f9fb6ca074eb1a84c504bebfabdf37	We present an HIV-infected patient with TDF-induced profound @PHENOTYPICFEATURE$, @DISEASE$, osteomalacia, and bilateral hip fracture.	has_symptom
+eaa9b138a0f2abbe1bbbc80bccd8976dc12e85c5	@DISEASE$ is an orphan disease characterised by encephalopathy, branch retinal artery occlusion and @PHENOTYPICFEATURE$.	has_symptom
+fa72e89f89e7e85747bce349a0e4922acfe068bd	@DISEASE$ is an orphan disease characterised by @PHENOTYPICFEATURE$, branch retinal artery occlusion and sensorineural hearing loss.	false
+4aaf7c67c934f6e3cd8e1d82dfc950c5a82850ec	Susac syndrome is an orphan disease characterised by @PHENOTYPICFEATURE$, branch retinal artery occlusion and @DISEASE$.	false
+c4ce54358ab1a47e619b53d737b1516cc83e8fdc	@DISEASE$ is a rare disease characterized by the triad of encephalopathy, branch retinal artery occlusion, and @PHENOTYPICFEATURE$ mainly affecting young women.	has_symptom
+feaab3d7bd47a1fad93d24a9f4691024b369dc39	Clinically, @DISEASE$ consists of a triad including encephalopathy, branch retinal artery occlusion, and @PHENOTYPICFEATURE$.	has_symptom
+fe0f4782e41f5bb12d50750baae498c05fcd02dc	Clinically, Susac syndrome consists of a triad including @PHENOTYPICFEATURE$, branch retinal artery occlusion, and @DISEASE$.	false
+867ab960b3da90c825c34f803c87e11cba7f6dfd	Clinically, @DISEASE$ consists of a triad including @PHENOTYPICFEATURE$, branch retinal artery occlusion, and sensorineural hearing loss.	false
+eb218f13493cc2ef326a7761cf921c4e967f73a5	@DISEASE$ is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and @PHENOTYPICFEATURE$.	has_symptom
+2344316be745e1fbdf15eb1a86ae9eced653924e	Susac syndrome is a rare disease characterized by the clinical triad of @PHENOTYPICFEATURE$, branch retinal artery occlusion, and @DISEASE$.	false
+de6ee2db757a7f339da109d3991cba5cc7e7da8b	@DISEASE$ is a rare disease characterized by the clinical triad of @PHENOTYPICFEATURE$, branch retinal artery occlusion, and sensorineural hearing loss.	false
+0d2a839dcfe95af6b33425170c5839a6a312980e	Clinically, @DISEASE$ consists of a triad including encephalopathy, branch retinal artery occlusions and @PHENOTYPICFEATURE$.	has_symptom
+18f9d964868ea37105938b373c76f1478c80ee43	Clinically, @DISEASE$ consists of a triad including @PHENOTYPICFEATURE$, branch retinal artery occlusions and sensorineural hearing loss.	false
+9cab6ce76eaf13c5903ff3fd5998763ef6c345ad	Clinically, Susac syndrome consists of a triad including @PHENOTYPICFEATURE$, branch retinal artery occlusions and @DISEASE$.	false
+58c18d4bbc63b3df1274e8e51ed017f512e94525	@DISEASE$ is a rare, probably immune-mediated endotheliopathy presenting with encephalopathy, @PHENOTYPICFEATURE$?and retinal arterial occlusions.	has_symptom
+d98845e66b143ecfe0026a3206077873b294394f	@DISEASE$ is a rare, probably immune-mediated endotheliopathy presenting with @PHENOTYPICFEATURE$, sensorineural hearing loss?and retinal arterial occlusions.	false
+d032707a1bd1e176de671ab0a652fcac88c3bc12	Susac syndrome is a rare, probably immune-mediated endotheliopathy presenting with @PHENOTYPICFEATURE$, @DISEASE$?and retinal arterial occlusions.	false
+483ab4a77a0cdc7e9fda0945460df253cfd2e091	[@DISEASE$ as a cause of @PHENOTYPICFEATURE$].	has_symptom
+c7ad1f586601dbb2d8b17e7e5331620c3b58f4eb	@DISEASE$ is a clinical triad of branch retinal artery occlusions, @PHENOTYPICFEATURE$, and encephalopathy.	has_symptom
+1fa1e7d6f1093f86a30db92f35f50b8dbb5543bb	Susac syndrome is a clinical triad of branch retinal artery occlusions, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6c94e2b1f54cb295ae640261dccc1590b9ac6180	@DISEASE$ is a clinical triad of branch retinal artery occlusions, sensorineural hearing loss, and @PHENOTYPICFEATURE$.	false
+a67b4371ec9014ea7671a222bd52942a3bb2caf6	@DISEASE$ is a rare condition characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and @PHENOTYPICFEATURE$.	has_symptom
+40efe86b321cb4f63c907bda5def06e94a5e035b	@DISEASE$ is a rare condition characterised by the clinical triad of @PHENOTYPICFEATURE$, branch retinal artery occlusion, and sensorineural hearing loss.	false
+4d737d0b4dd5e260b0ee99d33a0534438429b0fe	Susac syndrome is a rare condition characterised by the clinical triad of @PHENOTYPICFEATURE$, branch retinal artery occlusion, and @DISEASE$.	false
+104a8fdee5a1265096eed768f021bbfbd1cb3488	@DISEASE$ is characterized by encephalopathy, @PHENOTYPICFEATURE$, and branch retinal artery occlusion.	has_symptom
+da1e7762c9934a7990cc014c4f1ee05db6aeee9b	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, and branch retinal artery occlusion.	false
+f5aab3fc4d8ac8506a5c772a5eb3ba5b10296871	Susac syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and branch retinal artery occlusion.	false
+13ee5076e27378055b18f4a9064992c4f9e6f65a	@PHENOTYPICFEATURE$ following cataract surgery was the most common type of glaucoma (n=31, 30%), followed by @DISEASE$ (n=29, 29%).	has_symptom
+3a8af3e395e281b8ee610c72c580495b390a9c9e	@DISEASE$ following @PHENOTYPICFEATURE$ surgery was the most common type of glaucoma (n=31, 30%), followed by primary congenital glaucoma (n=29, 29%).	false
+248a66cfcc3b95fb0481e35e80fc11938f675bea	Glaucoma following @PHENOTYPICFEATURE$ surgery was the most common type of @DISEASE$ (n=31, 30%), followed by primary congenital glaucoma (n=29, 29%).	false
+6ee2ef7314b94860a4975e09a92d6ce68bb1f23d	Glaucoma following @PHENOTYPICFEATURE$ surgery was the most common type of glaucoma (n=31, 30%), followed by @DISEASE$ (n=29, 29%).	false
+4a36bbc91d5fcddb09ddd78f1d0b7605a951d49d	To report and compare visual and @PHENOTYPICFEATURE$ outcomes in @DISEASE$ (PCG) vs glaucoma following congenital cataract surgery (GFCS).	has_symptom
+44df2063aca36802ff547c463c835b3fb5f0d3c4	These results support the hypothesis that patients with Wolf-Hirschhorn syndrome and early onset @PHENOTYPICFEATURE$ may have large deletions of 4p that include a gene(s) that may be responsible for a dominant form of @DISEASE$.	has_symptom
+3b70d6f720e9daa6c85f57051b92d8b2f4157cb3	@PHENOTYPICFEATURE$ was a mild @DISEASE$ in all cases improved by surgical treatment.	has_symptom
+9aef5121f4dcd06726e60564dd0c47fc3b22a0d1	@PHENOTYPICFEATURE$ is broadly classified into primary open angle (POAG), primary closed angle (PCAG) and @DISEASE$ (PCG).	has_symptom
+1ac423d389cd945f0a619077b6f82cb9f49a187d	The aim of this study was to compare central corneal thickness between eyes with @DISEASE$ and normal fellow eyes in unilateral glaucoma or less affected fellow eyes in bilateral @PHENOTYPICFEATURE$.	has_symptom
+a716eaf27a1b8fd68f2a08c4c808e1df74c7067f	@PHENOTYPICFEATURE$ is a clinical entity with multifactorial etiology, a severe subtype occurs in infancy called @DISEASE$ (PCG).	has_symptom
+bbd98946b4f0dfde433cdb63dcc2960a2212419c	Six had primary open-angle glaucoma, 2 glaucoma in aphakia, 1 @DISEASE$, 4 secondary @PHENOTYPICFEATURE$, 2 neovascular glaucoma, and 1 glaucoma in pseudophakia.	has_symptom
+4760041c671ff402aa9eb6f4e08e2930277b6f4c	@DISEASE$ Versus @PHENOTYPICFEATURE$ Following Congenital Cataract Surgery: Comparative Clinical Features and Long-term Outcomes.	has_symptom
+c923e1fbdbd421b930c66997edc82ac02810a973	Two other patients also had this diagnosis made, but later developed active @PHENOTYPICFEATURE$, requiring surgical treatment, indicating the need for continued observation of apparently abortive forms of @DISEASE$.	has_symptom
+832fe64b4c1dafeed1ee960244bb13ab5df78c9a	@DISEASE$ (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, @PHENOTYPICFEATURE$, and characteristic dysmorphic features.	has_symptom
+30d55643e6ba17a7ae59799e754d76514b874658	@DISEASE$ (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, hypertrichosis, and characteristic dysmorphic features.	false
+bdeacebd84b21eb8a5344c0a7882fcfab77f14b7	Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, @DISEASE$, and characteristic dysmorphic features.	false
+512d276836d202a1d8d10d6be90d0dd8f313ddb3	Donohue syndrome (DS) is a rare and lethal @DISEASE$ caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, hypertrichosis, and characteristic dysmorphic features.	false
+832fe64b4c1dafeed1ee960244bb13ab5df78c9a	@DISEASE$ (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, @PHENOTYPICFEATURE$, and characteristic dysmorphic features.	has_symptom
+30d55643e6ba17a7ae59799e754d76514b874658	@DISEASE$ (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, hypertrichosis, and characteristic dysmorphic features.	false
+bdeacebd84b21eb8a5344c0a7882fcfab77f14b7	Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, @DISEASE$, and characteristic dysmorphic features.	false
+512d276836d202a1d8d10d6be90d0dd8f313ddb3	Donohue syndrome (DS) is a rare and lethal @DISEASE$ caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, hypertrichosis, and characteristic dysmorphic features.	false
+c764c8566c0796d9ec7ec8f517c4d17f036a1a21	Restrictive dermopathy (RD), also called @DISEASE$ (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and @PHENOTYPICFEATURE$), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course.	has_symptom
+b5357e453b017deaf54d9799f622c5be02698a33	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	has_symptom
+4ccc4d37bf5efc538d56d4dc889c9e093cf34d34	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+007513542784ced7e5250c9f13918ba09fc1d3d9	@DISEASE$ is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+d400965c51d3b63e62eb59c201d0036f07bc7ac7	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+48457142f1268480c8513035a9364708111a5531	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+115c6150924a96b8944b457bbf3284c01363a2d7	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+c08143b48959f839c1c7db5e9de17b217dcfa541	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+38adc3b7017858492b842a589ec1d0643b765bc3	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+2a1c26d36b8fa3abe2a0fbaf47d8760891f3ef93	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+4d484f5a061ad0fbdc8239c28e01c0b4c50ebbc5	@DISEASE$ is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+d92934d00d27bca17cd8c85e4d1890160c0ba29d	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+ae9f5654b2afe70974e08b3814fcc74a991c09f4	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+1a40b80af3fd04d8310534489371cd28c7666614	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+fc608b7b9f9d8740b5cf2050c1a0c18a14cf208c	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+571255a180b2f939b9b47dfb61d9028caac54428	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+2d5d3f19a0a49a11909892d2a369a2535f64be9f	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, @DISEASE$, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+d7b6fa6f653c0ffb712296a8373b28c2d0f37c85	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, @PHENOTYPICFEATURE$, @DISEASE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+66c53dd94f42d3ee8d6a4d2474af84e6200551e9	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @DISEASE$, eczema, telecanthus, blepharophimosis, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+e7a1f24c87c096c8cf2443e3c839737e0a72ec2a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+49a26112b5c9471d53404610e6134dafac06efdb	Dubowitz syndrome is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, @DISEASE$, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+3e8a303b7515ff1f4a2b652534e1bd65294a8d97	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, @DISEASE$, eczema, telecanthus, blepharophimosis, @PHENOTYPICFEATURE$, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+41d0e08019352253d3be5576596a6948f930a231	The peculiar face of individuals with @DISEASE$ includes sparse hair and eyebrows, low-set ears, blepharophimosis, bilateral ptosis, a flat nasal bridge with a broad nasal root and @PHENOTYPICFEATURE$.	has_symptom
+6fb14f1be95c450d4c93df286429500670e54145	Germline deletions and mutations of MYCN cause @DISEASE$ 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and @PHENOTYPICFEATURE$.	has_symptom
+8db2eedb664b1a821e2fd861cf07b39d9b8ce37d	Germline deletions and mutations of MYCN cause @DISEASE$ 1 (FS1), a rare disorder characterized by @PHENOTYPICFEATURE$, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and intellectual disability.	false
+37942ededd6aaf2894e2ebf0c5e17ffc425b3420	Germline deletions and mutations of MYCN cause @DISEASE$ 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, @PHENOTYPICFEATURE$, dysmorphic features, and intellectual disability.	false
+aeccf413ead1a85c847018c82fe7d9d6021be25f	Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by @PHENOTYPICFEATURE$, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and @DISEASE$.	false
+da311a83cdf69ca7f9f1135f725b3e51045ce4f5	Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, @PHENOTYPICFEATURE$, dysmorphic features, and @DISEASE$.	false
+78facd738cf9f68b3993760c8904b8b68469efad	PQBP1-linked @PHENOTYPICFEATURE$ (or @DISEASE$) is an X-linked mental retardation syndrome, which has clinically recognizable features.	has_symptom
+264992930f1e66766ae98b2121debd9e331c9f7e	PQBP1-linked microcephaly (or @DISEASE$) is an X-linked @PHENOTYPICFEATURE$ syndrome, which has clinically recognizable features.	false
+6bb4abb3f6407b8e19051f35b8d0a55376b229ba	PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked @PHENOTYPICFEATURE$ @DISEASE$, which has clinically recognizable features.	false
+f511caae9d3e508b517b9e8d9147ddd7e7225b16	PQBP1-linked @DISEASE$ (or Renpenning syndrome) is an X-linked @PHENOTYPICFEATURE$ syndrome, which has clinically recognizable features.	false
+053de9fe105a16d4427a0752619b1bdfba58ab74	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause @DISEASE$ and X-linked mental retardation in another family with @PHENOTYPICFEATURE$.	has_symptom
+49f030b92ec27509f5f7c3d572a3b332a59f9a3e	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause @DISEASE$ and X-linked @PHENOTYPICFEATURE$ in another family with microcephaly.	false
+f21380fdcbb57914cc0bed8af3ae4bc7f6a71e4e	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked @PHENOTYPICFEATURE$ in another family with @DISEASE$.	false
+0001cda24fccf954ebf549b2ddf3b8c8e2e7eae7	The @DISEASE$ spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, low stature, lean body and hypogonadism.	has_symptom
+7216127fec4ac68d728643503ec36b5156cd0aab	The @DISEASE$ spectrum is a rare X-linked @PHENOTYPICFEATURE$ syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism.	false
+5c166b5ee3d49ab650ffa7f05e9f495f75e6a8b8	The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, low stature, lean body and hypogonadism.	false
+85a956d259b62c4e63ab7465b6c07cb974f24641	The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, microcephaly, low stature, lean body and @DISEASE$.	false
+90561dbc72929c5f2cfca34b03f968ef902ad749	The @DISEASE$ spectrum is a rare X-linked mental retardation syndrome characterized by @PHENOTYPICFEATURE$, microcephaly, low stature, lean body and hypogonadism.	false
+338a6073dbecc5bc42947c5c0d1c8d3625c337de	The Renpenning syndrome spectrum is a rare X-linked mental retardation @DISEASE$ characterized by @PHENOTYPICFEATURE$, microcephaly, low stature, lean body and hypogonadism.	false
+8785df789c0e6916725205d7827900476b69286d	The Renpenning syndrome spectrum is a rare X-linked @PHENOTYPICFEATURE$ @DISEASE$ characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism.	false
+ac0c61852ddb5107f613f43aee994508a790ef86	The Renpenning syndrome spectrum is a rare X-linked @PHENOTYPICFEATURE$ syndrome characterized by intellectual disability, microcephaly, low stature, lean body and @DISEASE$.	false
+037126036f472fe80ebc85f92256973e3c1826ea	The Renpenning syndrome spectrum is a rare X-linked @PHENOTYPICFEATURE$ syndrome characterized by intellectual disability, @DISEASE$, low stature, lean body and hypogonadism.	false
+1b94945a180820e891040308646389a92015747e	Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, @DISEASE$ (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated @PHENOTYPICFEATURE$ and global brain atrophy.	has_symptom
+6ebb4bff0600ebc1dbf3e28d42f51b032ab2d7a7	Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and @PHENOTYPICFEATURE$, with associated @DISEASE$ and global brain atrophy.	false
+7401a60b14c5af773b5427abb7df5089ff9db778	Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset @PHENOTYPICFEATURE$, @DISEASE$ (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy.	false
+b46ac6a688f5420e75e4cc89c2b5373048a9774a	Premutation alleles of the fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene give rise to a late-onset movement disorder, @DISEASE$ (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated dementia and global brain atrophy.	false
+648a947f902c111fc2998ec5783df62a59dc987e	Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset @PHENOTYPICFEATURE$, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated @DISEASE$ and global brain atrophy.	false
+51bec1513adb471dd85acae9d3b83de8ac3a3f17	Premutation alleles of the fragile X mental retardation 1 (FMR1) gene give rise to a late-onset movement disorder, @DISEASE$ (FXTAS), characterized by progressive intention tremor and @PHENOTYPICFEATURE$, with associated dementia and global brain atrophy.	false
+590b3e8a35fd31fa202ba76d11e232bd8b0228ae	Premutation alleles of the fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene give rise to a late-onset movement disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive intention tremor and gait ataxia, with associated @DISEASE$ and global brain atrophy.	false
+a06e0b6e9d4deb30e7a0cd68debf7e2bd9d619a2	@PHENOTYPICFEATURE$ were evaluated with the Yesavage Geriatric Depression Scale (@DISEASE$) and Goldberg Anxiety Scale (GAS).	has_symptom
+8823f4ca4a4844e7fc3a919d5c1f46cc6d5706d9	The @DISEASE$ syndrome is an autosomal recessive mucopolysaccharidosis characterized clinically by @PHENOTYPICFEATURE$ and biochemically by storage in tissue and excretion in urine of excessive amounts of heparan sulfate.	has_symptom
+63b5eb494134a1d5384d8edb5f11565adffa3a9a	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	has_symptom
+4176ceed477728eb1388fd95676ef054c2038bb6	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a combined immunodeficiency.	false
+3346fc8949815e2c1ea428eba3696db263058c76	@DISEASE$ [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	false
+fa4de9ea5392d489f4280a77353eb51d0f001f10	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @DISEASE$, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a combined immunodeficiency.	false
+1210f562e3963faf958c568190d9c6c71bb49583	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @DISEASE$, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency.	false
+1d351670b3a79574d17cfcd524b081f77994bcac	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a @DISEASE$.	false
+a782f4d111fa7fa5522d0808589d0b612be2eff5	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, @DISEASE$, and a combined immunodeficiency.	false
+483766b2e446bc3306729197bab52915ad67d574	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, and a combined immunodeficiency.	false
+c5dce8e24aef800af6128e4fa630eebb1767db75	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a @DISEASE$.	false
+ef064dee5ccb153285489869521bf497f3e4b8c7	@DISEASE$ is a recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation.	has_symptom
+714c60dbb4cbf34cccd2e90524e0b626b19989fe	Vici syndrome is a recessively inherited @DISEASE$ characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+c5b1b40bafa4b3ef6a5a2c5ffd8cecfb6f2f106b	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency and hypopigmentation.	false
+e159b464664731071a6fe966464d4c0eb382454f	Vici syndrome is a recessively inherited multisystem disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+1c026153fa7d1c286e380ca5e6cd6eac44ea248a	@DISEASE$ is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+bbc6afafbd064709383a4969c83e5c2a5229cda9	@DISEASE$ is a recessively inherited multisystem disorder characterized by callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+740916d311dec2d7a2f871058633f9f18616b926	Vici syndrome is a recessively inherited multisystem disorder characterized by @DISEASE$, cataracts, cardiomyopathy, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+261216f45612c15f63ae88b40573619fe4b92ff9	Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, @DISEASE$, combined immunodeficiency and @PHENOTYPICFEATURE$.	false
+fccd9b6884d828550cb2054a260f706521e4de4d	Vici syndrome is a recessively inherited @DISEASE$ characterized by callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and hypopigmentation.	false
+dffee235cab9c74da0da166aa0e8026c4397454d	Albinism and @PHENOTYPICFEATURE$ with profound developmental delay: @DISEASE$, evidence for autosomal recessive inheritance.	has_symptom
+0596a314047b639bbd2415dc89836a9f348ca5a1	@PHENOTYPICFEATURE$ and @DISEASE$ with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.	false
+b302c4c12ce42efe47dd80ae03b15c02f96fc6b3	@PHENOTYPICFEATURE$ and agenesis of the corpus callosum with profound developmental delay: @DISEASE$, evidence for autosomal recessive inheritance.	false
+02d8a7c25ffb00210ad76309397ef00a57aea62f	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	has_symptom
+1e3e0de3833e34d90ea69626809b00150844f70b	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, @DISEASE$, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+20f6c2f3ff3cec2d08fa79c93aab20869bd1eb6f	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, @DISEASE$, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+9ac7fbdb73c8a8cecb4a2f2879cce4157d30d203	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+bc1fca22e8752ae77c922df9a1662c9e29d73761	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @DISEASE$, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+b510e438d33be9e447ab614e025810aba10bbc76	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+b90c7e51bc94adc7ffe08e86a5a792a4623d9111	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, psychomotor delay, and hypopigmentation.	false
+bf6dc5a510eb6e949e75ce08b890a12c2d151a27	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+a8c5a40684e9813c17b20b9e2c2aa20a6affe91c	Vici syndrome is a rare autosomal recessively inherited @DISEASE$ characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.	false
+8e57b76cfab344d3bcba4aab3d8645bff809246b	Vici syndrome is a rare autosomal recessively inherited @DISEASE$ characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+409c26b44800d612fbff0caa1e0e09748fc463c7	@DISEASE$ is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+f3fb8637ae0a15be124243621e6542bb669bf245	@DISEASE$ is a rare congenital multisystem disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities.	has_symptom
+ec6fcd5638fbd4a5c79b49b521ed1f3be961e4c3	Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, @DISEASE$, and immunological abnormalities.	false
+fa82be985d87c8bdb757efdb571bb5b5446781a6	Vici syndrome is a rare congenital multisystem disorder characterized by @DISEASE$, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, and immunological abnormalities.	false
+3d2e55049bd194d8318a034010c3d8b77870272b	Vici syndrome is a rare congenital @DISEASE$ characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, and immunological abnormalities.	false
+00fe718ad22b6426ff24ce3ffa94c84a05a664c6	@DISEASE$ is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	false
+17db6646dbff42434b095daf106982cb9ed95b99	Vici syndrome is a rare congenital multisystem disorder characterized by @DISEASE$, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	false
+ed159c8262aa75b33d1052a4fdc902caf3b81d8a	Vici syndrome is a rare congenital @DISEASE$ characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, and immunological abnormalities.	false
+ee6afd632aafbd765258faa7ce2cad2e9e54b430	Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, @PHENOTYPICFEATURE$, @DISEASE$, and immunological abnormalities.	false
+9578abe63e65c3faa81bdd27ecc0521223f509b1	@DISEASE$ is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, @PHENOTYPICFEATURE$, cataract, cardiomyopathy, and immunological abnormalities.	false
+654fb50ff42f6780f946bffad0f7ee41ef572c40	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	has_symptom
+f31894763336616d6e0058edd0bfba402d2f444c	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, @DISEASE$, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+bba16bcaa15b2cace13a79629d8a29b325d6da10	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @DISEASE$, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+bedae7bebf37bc4a1d6b9fa85b5d8ae0c319d68c	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital @DISEASE$ characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+098517b49c9253ab9d380e915ba84b365c521e36	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+a3dddc29746b2e017c9e80371199d0f6f7b802e0	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, @DISEASE$, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+02bdec45932eaf89a929149e47b3c79782bf1c8d	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital @DISEASE$ characterised by five principal features of callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation.	false
+41406aacac57e386bd8670918cd5d521f485a20e	Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of @DISEASE$, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+df55bde1c32409c98799266e013552d2ef53102f	@DISEASE$ is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous @PHENOTYPICFEATURE$.	false
+4b0cbe1c965e69bf65e5a797b744903499788473	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	has_symptom
+167f259940537292fe478a5d12151e069a5278ef	@DISEASE$ is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+b222f707fb99bdfd6dba72be3ceb01d0e8760505	Vici syndrome is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+9d5dd9a77de2589c968ab8ab3fd07a701b2f6a53	Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, @DISEASE$, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+6d1abc2d1c6ece438ee1c488f913fa0580c7dc67	Vici syndrome is characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, and @DISEASE$, with variable additional multisystem involvement.	false
+fea27efb2a5872b9d392c84d26220a9ecd4d3975	Vici syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement.	false
+73b45462e99087be5f6b4a8c2a0f9c2d2a2d4f35	Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, @PHENOTYPICFEATURE$, and @DISEASE$, with variable additional multisystem involvement.	false
+db8a460519be29c36c3885df283c51ad532c9b78	Vici syndrome is characterized by @DISEASE$, hypopigmentation, immunodeficiency, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+8a1eab9c39852d8b3ab4facfd18e14952cf68f23	@DISEASE$ is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, @PHENOTYPICFEATURE$, and cardiomyopathy, with variable additional multisystem involvement.	false
+400faf12fc24a9fd735ed82fe1319c3aa2982467	Sister and brother with @DISEASE$: @PHENOTYPICFEATURE$, albinism, and recurrent infections.	has_symptom
+eb73149341b4704f494d6141b7fde48e9b706d1e	Sister and brother with @DISEASE$: agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and recurrent infections.	false
+70fc818a8c65e1ead2899779efe0b4961db97e33	Sister and brother with Vici syndrome: @DISEASE$, @PHENOTYPICFEATURE$, and recurrent infections.	false
+9e433f50949c42ef268c6cc3516a54a4f46a9b49	@DISEASE$ is a rare congenital disorder characterized by albinism, @PHENOTYPICFEATURE$, and developmental delays.	has_symptom
+c08ac4cdcff60028d1e90cd868ac77dc315fb723	@DISEASE$ is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and developmental delays.	false
+3f7cb7762caf7ad8f71cd0c708e7f1c446836b04	Vici syndrome is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and developmental delays.	false
+30cc415bbe7454bd007020ebe765edaecc80cdf7	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising @PHENOTYPICFEATURE$, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation.	has_symptom
+ec977458bac90873ad3e12ad972f209eb3bd58ec	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, @DISEASE$, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+1b5d395681efd237926c8c815d7432e910c1d94e	Vici syndrome is a rare, genetically unresolved congenital @DISEASE$ comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+fc13fdc359893344cfbf6744792fa13bae40c2d8	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+620875e980a0b41f6a6ca576ef886a5a485ed3da	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+ec3fffc4fd58dec0eb36c38c4df7e2b0a5bdf85c	@DISEASE$ is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+78d887418b10fc5e23e765cc0e3543afc6069bbf	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @DISEASE$, cataracts, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+aa5c62507c313a652b3aa0662ea966476dd8e913	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, immunodeficiency, @DISEASE$, and hypopigmentation.	false
+d2089130050090f468228e9e63666e8dcb2dfd75	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, cardiomyopathy, and hypopigmentation.	false
+7dd47afad3afe2e2142b01cf7e70d626a1691231	Vici syndrome is a rare, genetically unresolved congenital @DISEASE$ comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+f77240925f3b2d8474f708444d3d4f02eaf8b71d	Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, and hypopigmentation.	false
+1d8a5f24996db205555dc1494d50f3ac616ef234	Failure of the ductus venosus to close may result in @DISEASE$, hypoxemia, @PHENOTYPICFEATURE$ with hyperammonia, and hepatic dysfunction.	has_symptom
+e872c9b668be5e79ba58631271752a1d07c08c0e	We conclude that in all the children whit a clinical picture of hepatomegaly, splenomegaly, hypertriglyceridemia and @PHENOTYPICFEATURE$ it is obligatory to rule out an inborn error of lipid metabolism like @DISEASE$ or cholesterol ester storage disease.	has_symptom
+a0ed1e8816910cf11a01e8e1a3c7baf06c189ba6	@DISEASE$: A rare cause of recurrent @PHENOTYPICFEATURE$.	has_symptom
+4c437bfbc0de769c71981e3b6d553e686bd6c3c6	@DISEASE$ (HAE) is an autosomal dominant disorder characterized by recurrent edema of the oropharynx, the extremities, and by @PHENOTYPICFEATURE$.	has_symptom
+b6bbe15ee876695e78ce66b42d8705fd25493d59	The purpose of this review is to raise awareness among gastroenterologists about @DISEASE$ as a potential cause of recurrent, unexplained @PHENOTYPICFEATURE$.	has_symptom
+290f8cc1682c66923194e423564bfba4afc8ed07	@DISEASE$ (HAE): a cause for recurrent @PHENOTYPICFEATURE$.	has_symptom
+f39114313355d943e09b5710e51f558407de3e26	@DISEASE$ as a cause of transient @PHENOTYPICFEATURE$.	has_symptom
+b675005832efca738a129461d2b580b9316aa3b8	@DISEASE$ (HAE) is characterized clinically by recurrent acute skin swelling, @PHENOTYPICFEATURE$, and potentially life-threatening laryngeal edema.	has_symptom
+11e459784cece123ac8cd37ef3f0d18ab9e9d32b	@DISEASE$ is a familial disorder characterized by recurrent episodes of soft tissue swelling and @PHENOTYPICFEATURE$.	has_symptom
+9a48d03485928eeaa6762e9b1e27a4cbe8a805ce	@DISEASE$ is characterized by recurrent skin swelling, @PHENOTYPICFEATURE$ attacks, and potentially life-threatening upper airway obstruction.	has_symptom
+d8d4483864498f6cc2c9ec5678de3e1e010db278	We report a patient with @DISEASE$ (HAE) presenting with skin edema and @PHENOTYPICFEATURE$.	has_symptom
+18d6bd675f1d69df7cd8d584538d1dc52951101b	We report a patient with hereditary angioedema (HAE) presenting with skin @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d99dae807de82051d5ddf5c7c0f61846e377d4fb	We report a patient with @DISEASE$ (HAE) presenting with skin @PHENOTYPICFEATURE$ and abdominal pain.	false
+dbc7c2a112ce154132f37ef74bbd525119977c46	We describe a patient with type I @DISEASE$ presenting recurrent episodes of skin swelling and @PHENOTYPICFEATURE$.	has_symptom
+d293f61ac1e7f6bb11b8d9daa920043057cb391f	The constellation of dwarfism, medullary stenosis, transient @PHENOTYPICFEATURE$, and ophthalmologic abnormalities has been classically recognized as @DISEASE$ with additional manifestations ranging from hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3)	has_symptom
+b7ef514496f81566fd25f772c856387588ea6ba5	The constellation of dwarfism, medullary stenosis, transient @DISEASE$, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from @PHENOTYPICFEATURE$, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3)	false
+20071b53847a3da61eb9e88ede2451f787ab9ae8	The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from @PHENOTYPICFEATURE$, persistent neutropenia, abnormal T-cell function, and neonatal @DISEASE$.(3)	false
+a31a26bacc5dd45b68bbfb5df6ef26b6156951ab	The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as @DISEASE$ with additional manifestations ranging from @PHENOTYPICFEATURE$, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3)	false
+92f18117b423368eb44accf032b0686bbf3df795	Fatigue is associated with @PHENOTYPICFEATURE$ in @DISEASE$: an explorative study.	has_symptom
+a070c147177b3343f4deecd3fa6020ca6232ed0b	@PHENOTYPICFEATURE$ was observed in eight of 34 patients with @DISEASE$.	has_symptom
+532d497d3216a24274fc59aa38683965282116bd	@PHENOTYPICFEATURE$ - fit well into the neurocristopathy concept of @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+f0216ba2ee9d4f41da65e3e946411fa08380a1df	The high prevalence of @PHENOTYPICFEATURE$ in our group of patients (24%) makes its direct association with @DISEASE$ highly feasible.	has_symptom
+1fd21d1ded3d247c7d70bfb713dca0bdde315503	In eight out of thirty-four patients with @DISEASE$ @PHENOTYPICFEATURE$ was seen.	has_symptom
+679c41bb5f0a59ad739e6f68f0559d7b164b5327	The high incidence of @PHENOTYPICFEATURE$ in our group of patients (24%) makes its direct association with @DISEASE$ feasible.	has_symptom
+b295ea74a0ab895fc01c037e123dce8ab331dc00	Moreover, @PHENOTYPICFEATURE$ was found exclusively in @DISEASE$ patients with brain involvement (8 out 11) and therefore seems to herald a severe expression of Morbus Recklinghausen.	has_symptom
+e8fe9ebe3c570a4b64e8428f902efae6d4c4a97c	Another related dominant @PHENOTYPICFEATURE$, @DISEASE$ (DRPLA), presents anticipation with CAG/CTG repeat expansions.	has_symptom
+3e2fd7bb550bf40262670b443d1ea25196f68b37	Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, @DISEASE$, and Friedreich's @PHENOTYPICFEATURE$ genes in spinocerebellar ataxia patients in the UK.	has_symptom
+42efa568dc9bf78458bc6c2a36803a28a0ee8663	Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, @DISEASE$, and Friedreich's ataxia genes in spinocerebellar @PHENOTYPICFEATURE$ patients in the UK.	has_symptom
+be2e01302f88b9cacd3c7fa6e6086e461a632513	Relative frequencies of CAG expansions in spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$ in 116 Italian families.	has_symptom
+54737ff77c34e4e40832ed0679a99e52c1cca0bb	Prevalence of @DISEASE$ in a large series of white patients with @PHENOTYPICFEATURE$.	has_symptom
+ff6fe0347d89402f84866f69d9c2ef514e0038d1	Testing for SCA types 1, 2, 3, 6, 7, and 8, @DISEASE$ (DRPLA), Friedreich @PHENOTYPICFEATURE$ and the FMR1 expansion was performed.	has_symptom
+16511ad0ff0d54984e0e1153bc6899a52435f3d4	Another related dominant @PHENOTYPICFEATURE$, @DISEASE$ (DRPLA), also shows CAG/CTG repeat expansions.	has_symptom
+e64989df289c75d229e03703ac233cc8dce79050	Here we describe a 12-year-old girl with @DISEASE$ who presented with progressive myoclonic epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+8720e2ad732919e083b4179cf6f1e8ff64646cca	Frequency of spinocerebellar ataxia types 1,2,3,6,7 and @DISEASE$ mutations in Korean patients with spinocerebellar @PHENOTYPICFEATURE$.	has_symptom
+386170c754a509b81fea2b8035c2711eaf1a4a92	Frequency of spinocerebellar ataxia type 1, @DISEASE$, and Machado-Joseph disease mutations in a large group of spinocerebellar @PHENOTYPICFEATURE$ patients.	has_symptom
+a4ad16d856c2db5a33382461db51ed4796cf6ecf	[Polynucleotide repeat expansion of nine spinocerebellar @PHENOTYPICFEATURE$ subtypes and @DISEASE$ in healthy Chinese Han population].	has_symptom
+bf4fa7adeba46dd8c5732d08dd38f16e2248f086	[Postoperative @PHENOTYPICFEATURE$ in an epileptic patient with @DISEASE$].	has_symptom
+24f29b638081726487b5cbb5204bbc9bfa2a5f80	The cardinal symptoms of hereditary @DISEASE$ includes mental retardation, @PHENOTYPICFEATURE$ and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	has_symptom
+372bf92a27e9206d3c150775fed0662f369fb068	The cardinal symptoms of hereditary @DISEASE$ includes mental retardation, epileptic seizure and myoclonus, @PHENOTYPICFEATURE$ with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+17b3880427cfd8ef5d6fd2c8e63aedfe34a20c75	The cardinal symptoms of hereditary DRPLA includes @PHENOTYPICFEATURE$, @DISEASE$ and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+f845be4df771995bac82e1557117096fa73401a2	The cardinal symptoms of hereditary @DISEASE$ includes mental retardation, epileptic seizure and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, @PHENOTYPICFEATURE$ with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+55feb10c19b3147af7f2966ddef83a2549bb2ed9	The cardinal symptoms of hereditary DRPLA includes mental retardation, @DISEASE$ and myoclonus, @PHENOTYPICFEATURE$ with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+0c35db7d64433254000d87165d51bc30f543c355	The cardinal symptoms of hereditary @DISEASE$ includes @PHENOTYPICFEATURE$, epileptic seizure and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+bba2ef2031f0f59e7c749326d31817380d8f2381	The cardinal symptoms of hereditary DRPLA includes mental retardation, @DISEASE$ and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, @PHENOTYPICFEATURE$ with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+458b083730bdf5744f695302da7b6d4934817c99	We explored the characteristics of @PHENOTYPICFEATURE$ of progressive myoclonus epilepsy (PME) in 2 brothers with @DISEASE$ (DRPLA).	has_symptom
+d6b5934dec3df9ccf20769559b17b07e83ae79ef	By following the clinical courses and electroencephalographic changes, we found that the types of @PHENOTYPICFEATURE$ and the electroencephalograms of the juvenile @DISEASE$ patients changed as the illness progressed.	has_symptom
+66329d56fe381d61d3494cc85354a704665390f7	Efficacy of perampanel for controlling @PHENOTYPICFEATURE$ and improving neurological dysfunction in a patient with @DISEASE$ (DRPLA).	has_symptom
+aff38c09f64a0d932a54e694824d744b6ea4c5ef	Clinically it may be useful to determine the qualitatively normal or pathologic character of a quantitatively normal proteinuria, especially in the following conditions: 1) for early diagnosis of nephropathy in patients, such as diabetics, which are particularly prone to suffer from renal complications; 2) to confirm the clinical cure or to predict the recurrence of renal diseases; and 3) in such situations as orthostatic, or @DISEASE$ @PHENOTYPICFEATURE$, or any elevation of the urinary protein output of unknown etiology.	has_symptom
+ece902ff13f82b6c9edec5c62a8d01c4257d24f5	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @PHENOTYPICFEATURE$, premature graying/alopecia, cataract, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	has_symptom
+0a175f4b1ed1a8cfce31d11fc856985a866d120e	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and @DISEASE$, were absent.	false
+5e76f4bb14c7819b73d68b0554473e75d2a9e4d0	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @DISEASE$, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+e2c1c58f3c11b146c079f8a70a99c5ac2e2d54c4	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and @DISEASE$, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+74adb9064c1ca0ebb44e586e600baa1a15bf13ff	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and @DISEASE$, were absent.	false
+4edb6f784f0d2ba82d8e667aaeda9f00345b6f42	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and diabetes mellitus, were absent.	false
+79ad4326fa9027584dd5327ba4afefa617ccf222	Although our APS/AWS patient had overlapping features with @DISEASE$ (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+b9ca20833137c8adcdcda3b1e39c7333e95ed8c3	Although our APS/AWS patient had overlapping features with @DISEASE$ (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and diabetes mellitus, were absent.	false
+3a84c4b9c19fa635957f134786e764946a2a2388	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and @DISEASE$, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and diabetes mellitus, were absent.	false
+66054fecba9445fe0cce24fbcc10d05687a75f88	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+3f7d96f029520878fd6a29cad15c950f90a73ff7	Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including @DISEASE$, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and diabetes mellitus, were absent.	false
+70f3e291e18b1c9300c016be7a49d47b501abf9c	Diffuse lesions imitated neurosarcoidosis, @DISEASE$, and carcinomatosis @PHENOTYPICFEATURE$.	has_symptom
+d8da61d50819c70801de5e0bd1e5a4e720c6545a	Smoking and @PHENOTYPICFEATURE$ are @DISEASE$ (EAC) risk factors.	has_symptom
+653c1f7b67b7f988d7079f4187aec8fbca85ecce	@DISEASE$ after @PHENOTYPICFEATURE$ surgery in a population-based cohort study.	has_symptom
+54ec9acb521bae4b70fce64a136100217e8acb14	The oesophageal microbiome: an unexplored link in @PHENOTYPICFEATURE$-associated @DISEASE$.	has_symptom
+d95931aa910a75b85eae9434877c6f34d0d27d5f	@DISEASE$ after laparoscopic gastric band placement for @PHENOTYPICFEATURE$.	has_symptom
+83a1b2478a6a013e80591f837a1d07ee7148c20b	One risk factor associated with @DISEASE$ is @PHENOTYPICFEATURE$.	has_symptom
+5ff622f103f2e7d7c01ccf0c652733b86e4703ff	Part of the positive association between @PHENOTYPICFEATURE$ and oesophageal adenocarcinoma may be explained through obesity-related mechanical promotion of gastroesophageal reflux disease, which is one of the main risk factors for @DISEASE$.	has_symptom
+c646a27ea90bd3d1c800b08616e928677f523c81	Part of the positive association between obesity and oesophageal adenocarcinoma may be explained through @PHENOTYPICFEATURE$-related mechanical promotion of gastroesophageal reflux disease, which is one of the main risk factors for @DISEASE$.	has_symptom
+431734ad10c269ed3facba83566925750f2ea08b	Part of the positive association between obesity and @DISEASE$ may be explained through @PHENOTYPICFEATURE$-related mechanical promotion of gastroesophageal reflux disease, which is one of the main risk factors for oesophageal adenocarcinoma.	has_symptom
+0824a62c4561bb7003c4025a1082b26bc46e95b6	Part of the positive association between @PHENOTYPICFEATURE$ and @DISEASE$ may be explained through obesity-related mechanical promotion of gastroesophageal reflux disease, which is one of the main risk factors for oesophageal adenocarcinoma.	has_symptom
+097bf374a7e184372bc44d0844798ff2704f9f88	Pathophysiological mechanisms linking @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+bbfc86f4588be4e9b2f95626cf958f17f4a805b8	There is a potential link between @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+67139ea3371449509fab70e668edb8cefd80389e	@DISEASE$: role of @PHENOTYPICFEATURE$ and diet.	has_symptom
+b37a134a3d405412c6f79d3a4b526b9cb7362054	Physical activity, @PHENOTYPICFEATURE$ and risk for @DISEASE$.	has_symptom
+3ae81d1d573a0c4be744c4de96107e9eb5c2009f	@DISEASE$ (UV(S)S) is a genodermatosis characterized by @PHENOTYPICFEATURE$ without skin carcinoma.	has_symptom
+f82b533b8db520ed441e79b75d51b6ee57a5df0b	The severity of @DISEASE$ (FAS) morphological phenotypes, such as @PHENOTYPICFEATURE$, depends on the embryonic stage and concentration of alcohol exposure, as does diminution of retinal Pax6a or forebrain and hindbrain GAD1 gene expression.	has_symptom
+72d0dad32a1b6f2ef205e65620312ebcebdb9b67	@DISEASE$ (FAS), the strongest manifestation of FASD, results in short stature, microcephally and facial dysmorphogenesis including @PHENOTYPICFEATURE$.	has_symptom
+a38d429bac66d362fa43774d64b47fc4378021c7	@DISEASE$ (FAS), the strongest manifestation of FASD, results in @PHENOTYPICFEATURE$, microcephally and facial dysmorphogenesis including microphthalmia.	false
+382bbacc53d4221af4fac31bf96eae10a7a587ba	Fetal Alcohol Syndrome (FAS), the strongest manifestation of FASD, results in @PHENOTYPICFEATURE$, microcephally and facial dysmorphogenesis including @DISEASE$.	false
+4b62fca822793530f64fedcf016e5d0f12bbb093	Ocular defects have also been reported in about 90% of children with @DISEASE$, including @PHENOTYPICFEATURE$, loss of neurons in the retinal ganglion cell (RGC) layer, optic nerve hypoplasia, and dysmyelination.	has_symptom
+409e2828dedc1212f7cc19ab51579855425b3953	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, mental retardation, band keratopathy, @PHENOTYPICFEATURE$, glaucoma and short stature.	has_symptom
+7320f6da89f2d0aabfcfc9789076f5e39b8512ad	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, @PHENOTYPICFEATURE$, band keratopathy, @DISEASE$, glaucoma and short stature.	false
+a4b318414e51186042cf067511e403d648f61bbc	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, @PHENOTYPICFEATURE$, mental retardation, band keratopathy, @DISEASE$, glaucoma and short stature.	false
+434b03ee9bb8ce13081406b57c823c14c1bd07b4	We describe a 16-year-old female with persistent isolated @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, band keratopathy, cataracts, glaucoma and short stature.	false
+9de7ce9aecb7c5f3546ad407e3ec0b6aabb27dc8	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and @PHENOTYPICFEATURE$.	false
+e281d41c1d9a2c1f7eea6bc2cc74c3ed664f9673	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, @PHENOTYPICFEATURE$, band keratopathy, cataracts, glaucoma and short stature.	false
+e3844c539064122ffe9cb100a72bedba5c30d236	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, @DISEASE$, glaucoma and @PHENOTYPICFEATURE$.	false
+1004de63fe429527cbd16357c316fae69c28240e	Homozygous point mutations in NBCe1 cause @DISEASE$ (pRTA), glaucoma, and @PHENOTYPICFEATURE$ (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.	has_symptom
+d419d1f3cddb6e76e618a7b1e1cf2ee322497d56	Glaucoma, @PHENOTYPICFEATURE$, and @DISEASE$ are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2).	has_symptom
+ff2eb94e4ac0adfdb697a0b6abf473e61dbc263f	@PHENOTYPICFEATURE$, @DISEASE$, and proximal renal tubular acidosis are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2).	false
+04db68932bcd9352cdf083c55911580df14657be	@PHENOTYPICFEATURE$, cataracts, and @DISEASE$ are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2).	false
+47b3af5391e8d08041514e669096dee8356a1ce6	A 12-year-old girl presented with permanent isolated @DISEASE$ (pRTA), glaucoma, band keratopathy, mild @PHENOTYPICFEATURE$ and short stature.	has_symptom
+5ddaf7a2a9ea0c8319b5d8498cd99a1a6a7c6e1b	A 12-year-old girl presented with permanent isolated @DISEASE$ (pRTA), glaucoma, band keratopathy, mild cataract and @PHENOTYPICFEATURE$.	false
+8b1417cc25e11f94f1b5bac831bb7c23912dfc66	A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), @DISEASE$, band keratopathy, mild cataract and @PHENOTYPICFEATURE$.	false
+8b49453ebfb6aa7ff84da3c204ee18c17034b409	A 12-year-old girl presented with permanent isolated proximal renal tubular acidosis (pRTA), glaucoma, band keratopathy, mild @DISEASE$ and @PHENOTYPICFEATURE$.	false
+99bcd718fe57288fbace1ed398a171221f3e5764	Mutations in the electrogenic Na+/nHCO3- cotransporter (NBCe1, SLC4A4) cause severe @DISEASE$, glaucoma, and @PHENOTYPICFEATURE$ in humans, indicating NBCe1 has a critical role in acid-base homeostasis and ocular fluid transport.	has_symptom
+374650ebd5d173e26e6dc25c6cf0fc5ab0b6db29	Mutations in the electrogenic Na+/nHCO3- cotransporter (NBCe1, SLC4A4) cause severe @DISEASE$, @PHENOTYPICFEATURE$, and cataracts in humans, indicating NBCe1 has a critical role in acid-base homeostasis and ocular fluid transport.	false
+242e9fcd47635328d6d9308586e73fd7c8971410	Mutations in the electrogenic Na+/nHCO3- cotransporter (NBCe1, SLC4A4) cause severe proximal renal tubular acidosis, @PHENOTYPICFEATURE$, and @DISEASE$ in humans, indicating NBCe1 has a critical role in acid-base homeostasis and ocular fluid transport.	false
+9744535266e441f6c4829f33832ed50abc88b307	Mutations in the electrogenic Na(+)/HCO3(-) cotransporter (NBCe1) that cause @DISEASE$ (pRTA), glaucoma, and @PHENOTYPICFEATURE$ in patients are recessive.	has_symptom
+cff1ae7c466ba00f58766bd9c7fdce5cd4535665	@DISEASE$ associated with ocular abnormalities such as band keratopathy, glaucoma, and @PHENOTYPICFEATURE$ is caused by mutations in the Na(+)-HCO(3)(-) cotransporter (NBC-1).	has_symptom
+840727e2478a26c8677810a0ca2b717b666a32d1	Consistent with this view, homozygous mutations in NBCe1 cause severe @DISEASE$ associated with ocular abnormalities such as band keratopathy, glaucoma, and @PHENOTYPICFEATURE$.	has_symptom
+48513ac8b7bf11a4b375ddcb44de771b6777b96f	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe @DISEASE$, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, @PHENOTYPICFEATURE$ and band keratopathy.	has_symptom
+d76f805a7b48301f1e7a15ab753f13901266a240	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as @PHENOTYPICFEATURE$ and developmental delay, glaucoma, @DISEASE$ and band keratopathy.	false
+1b44c11e46f73ee40657a0112195f6e32d3ed549	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as @PHENOTYPICFEATURE$ and developmental delay, @DISEASE$, cataract and band keratopathy.	false
+3bc1e15706fd8c51f81c07330b99ebab89f2a29b	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe @DISEASE$, which often comprises extrarenal symptoms, such as @PHENOTYPICFEATURE$ and developmental delay, glaucoma, cataract and band keratopathy.	false
+534c025f4ef76b6e7daf11b570fdaa6305688bdc	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @PHENOTYPICFEATURE$, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	has_symptom
+88baeb4edc06c795c921e2cd89a069a38d2006a0	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, @DISEASE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+06153ba099211bf55d4ef73255073246022e636e	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @DISEASE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+ec1dfed78d6e7aace4716864ff5840020ce93362	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+5be720130ed7e0baf17804448a9626e7448c2954	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+99b05584c4c025a6f669de7f87eb69378f0e7a1e	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+504baf8d77d8489e46ddbad84c759eaa51817c6b	Endocrine abnormalities (e.g., @DISEASE$, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+f98cb9a22e52b77bdaf8ff65b44b914171180ec9	Endocrine abnormalities (e.g., diabetes, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+68cddd1b515e390e3a895dc0079feb80114feabd	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral @DISEASE$, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+517e4061c463d29bff63ae932b4833e8486761d3	Endocrine abnormalities (e.g., @DISEASE$, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+4296377411bf3fd0101df9bd3842d2800c20ad0a	Endocrine abnormalities (e.g., diabetes, @PHENOTYPICFEATURE$/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+4fea98532c8e58aaece70cc74db28975bff0c231	Endocrine abnormalities (e.g., diabetes, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, @DISEASE$, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+bc37c6ed8a62d4f038aabc5522308c75c8b71ebd	Endocrine abnormalities (e.g., diabetes, growth retardation/@PHENOTYPICFEATURE$, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+4adf927ac1ff03578ad12ff662c208f07bf3bb95	Hereditary inclusion body myopathy/@DISEASE$ is an adult onset autosomal recessive @PHENOTYPICFEATURE$ disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE:p.M712T.	has_symptom
+6a6a9f4f9a478bb0cbac6b5bc1bdfeac69659577	@DISEASE$/distal myopathy with rimmed vacuoles is an adult onset autosomal recessive @PHENOTYPICFEATURE$ disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE:p.M712T.	has_symptom
+74db9cc4488123cab736d7b0964a4f54aeeec9f8	@DISEASE$/hereditary inclusion body myopathy (DMRV/hIBM), characterized by progressive @PHENOTYPICFEATURE$, weakness, and degeneration, is due to mutations in GNE, a gene encoding a bifunctional enzyme critical in sialic acid biosynthesis.	has_symptom
+bf6e7a99fd7ab32a9d7c97dc73917c23ca5dfa0c	Distal myopathy with rimmed vacuoles/@DISEASE$ (DMRV/hIBM), characterized by progressive @PHENOTYPICFEATURE$, weakness, and degeneration, is due to mutations in GNE, a gene encoding a bifunctional enzyme critical in sialic acid biosynthesis.	has_symptom
+3dc9827208a9cb07ec816281307d1651a95e6b77	GNE myopathy, previously known as @DISEASE$ (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive @PHENOTYPICFEATURE$.	has_symptom
+20d0bfa6559cc88732f9fd41abc7f385cd3379d1	GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or @DISEASE$, is a rare autosomal recessive muscle disease characterized by progressive @PHENOTYPICFEATURE$.	has_symptom
+5d7e53039e587ad3594e47ec2f2c2256e6b32768	@DISEASE$ (IBM) is a skeletal @PHENOTYPICFEATURE$ disease, displaying progressive proximal and distal muscle weakness, in association with muscle fiber atrophy, degeneration and death.	has_symptom
+1a6bf5419733ab1b39aac123f991a13e45663f6c	Accordingly, we studied nonspecific CBs found in the muscle biopsies of 15 patients with the following diseases: peripheral neuropathy (n = 5), polymyositis (n = 3), myotonic dystrophy (n = 2), sarcoidosis (n = 1), inclusion body myositis (n = 1), @DISEASE$ (n = 1), hypothyroidism (n = 1), and @PHENOTYPICFEATURE$ in a patient with multiple brain infarctions (n = 1).	has_symptom
+c42716d35111b53913c8346ee21f95190e9136b5	Accordingly, we studied nonspecific CBs found in the muscle biopsies of 15 patients with the following diseases: @PHENOTYPICFEATURE$ (n = 5), polymyositis (n = 3), myotonic dystrophy (n = 2), sarcoidosis (n = 1), inclusion body myositis (n = 1), @DISEASE$ (n = 1), hypothyroidism (n = 1), and muscle atrophy in a patient with multiple brain infarctions (n = 1).	false
+f8b0a62a7c171cbb405967b01593ecf7f29b4bc0	Accordingly, we studied nonspecific CBs found in the muscle biopsies of 15 patients with the following diseases: @PHENOTYPICFEATURE$ (n = 5), polymyositis (n = 3), @DISEASE$ (n = 2), sarcoidosis (n = 1), inclusion body myositis (n = 1), hereditary inclusion body myopathy (n = 1), hypothyroidism (n = 1), and muscle atrophy in a patient with multiple brain infarctions (n = 1).	false
+53e997faaf6b0749469974ca6a1b755c01a21403	Accordingly, we studied nonspecific CBs found in the muscle biopsies of 15 patients with the following diseases: @PHENOTYPICFEATURE$ (n = 5), polymyositis (n = 3), myotonic dystrophy (n = 2), sarcoidosis (n = 1), inclusion body myositis (n = 1), hereditary inclusion body myopathy (n = 1), hypothyroidism (n = 1), and @DISEASE$ in a patient with multiple brain infarctions (n = 1).	false
+13631d9c752c16c256c4216089821fe8afa43d37	Accordingly, we studied nonspecific CBs found in the muscle biopsies of 15 patients with the following diseases: @PHENOTYPICFEATURE$ (n = 5), polymyositis (n = 3), myotonic dystrophy (n = 2), sarcoidosis (n = 1), inclusion body myositis (n = 1), hereditary inclusion body myopathy (n = 1), @DISEASE$ (n = 1), and muscle atrophy in a patient with multiple brain infarctions (n = 1).	false
+6c1bd6dff1d1cf2218ea19de2bf8540bbe8e22d6	GNE myopathy (also called distal myopathy with rimmed vacuoles or @DISEASE$) is an autosomal recessive myopathy characterised by @PHENOTYPICFEATURE$ and weakness that preferentially involve the distal muscles.	has_symptom
+054c839d32b77cd9aff4497a7e33ebf30dd816a1	GNE myopathy (also called @DISEASE$ or hereditary inclusion body myopathy) is an autosomal recessive myopathy characterised by @PHENOTYPICFEATURE$ and weakness that preferentially involve the distal muscles.	has_symptom
+1b7927b1b5a2fb341c509f7c6da0ebac410b83e6	@DISEASE$ (HIBM, IBM2, MIM:600737) is an autosomal recessive adult onset progressive @PHENOTYPICFEATURE$ disorder.	has_symptom
+cbd58968086c11997da16efda04704eb3c96414d	Other cases of @DISEASE$ have had associated palate or @PHENOTYPICFEATURE$ or presented with precocious puberty.	has_symptom
+0b1032d479b92b3bbc8d6b40926cae2a029578b5	Also, published sporadic cases have been related with rare variants of ectodermal dysplasia, chromosomal abnormalities, precocious puberty, @DISEASE$, @PHENOTYPICFEATURE$, physical/mental retardation, genital hypoplasia and ear abnormalities.	has_symptom
+d6218ebd1ff9c5913aa622522b91930ae468fc6d	Also, published sporadic cases have been related with rare variants of ectodermal dysplasia, chromosomal abnormalities, precocious puberty, @DISEASE$, congenital heart defects, physical/@PHENOTYPICFEATURE$, genital hypoplasia and ear abnormalities.	false
+72fa23f03b552815a7d0c1212b1a3db306ca00dd	Also, published sporadic cases have been related with rare variants of @DISEASE$, chromosomal abnormalities, precocious puberty, hypothalamic hamartoma, congenital heart defects, physical/@PHENOTYPICFEATURE$, genital hypoplasia and ear abnormalities.	false
+6bcccb553cc0392e8769de7c7b09ba3e4ddc410a	Also, published sporadic cases have been related with rare variants of ectodermal dysplasia, chromosomal abnormalities, precocious puberty, hypothalamic hamartoma, @DISEASE$, physical/@PHENOTYPICFEATURE$, genital hypoplasia and ear abnormalities.	false
+922fb85f48ecec42ae4f1969563bec8ae9cd4413	Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, @DISEASE$, hypopituitarism, @PHENOTYPICFEATURE$, and Hirschprung disease.	has_symptom
+f7662321552d36d5ad0a4935828202e8c4e97e86	Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, hypothalamic hamartomas, @PHENOTYPICFEATURE$, @DISEASE$, and Hirschprung disease.	false
+aeeb30c185dbcd07a99ed3e2b8b92d504bbf861c	Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, @DISEASE$, @PHENOTYPICFEATURE$, heart defects, and Hirschprung disease.	false
+08803e2da335590423f3c514483d3274f31df590	In the supratentorial compartment, astrocytoma (nos), protoplasmic astrocytoma, anaplastic astrocytoma, and @DISEASE$ were more frequently associated with @PHENOTYPICFEATURE$ than was craniopharyngioma.	has_symptom
+65f95df68cc9c073952f652cee23c45804121b53	A 46-year-old Japanese woman had @DISEASE$, mild @PHENOTYPICFEATURE$, and peripheral neuroaxonal degeneration.	has_symptom
+cb3935c65c3c4f8a4cac8c3bd5e19e17573bda2b	Thus, @PHENOTYPICFEATURE$ in @DISEASE$ does not seem to occur solely by having symptoms for many years or by having high disease burden.	has_symptom
+29a3f57965923f2121bafb54687324b86ccd7fe4	The first patient with this autosomal recessive disorder, a 46-yr-old consanguineous Japanese woman, presented with @DISEASE$, mild @PHENOTYPICFEATURE$, and peripheral neuroaxonal degeneration.	has_symptom
+c61d4cb2843f4f697d5b0cfd715701a527dbc889	In a 22-year-old woman with @PHENOTYPICFEATURE$ and some signs of dysmorphism, numerous angiokeratomas developed, starting when she was 3 years old and resulting in the clinical picture of @DISEASE$.	has_symptom
+231693b3f957198783be80501f858eafddb0ff81	Exploring the nature of @PHENOTYPICFEATURE$ in @DISEASE$ using standardised neuropsychological assessment, brain imaging and measures of depression is an important task for future research.	has_symptom
+72f503f309ff4b25ee01b651ecb6de7ca8b7ef5e	The abnormal neuronal accumulation of glycosphingolipid appears to have little clinical effect on the natural history of @DISEASE$, with the possible exception of some reported mild @PHENOTYPICFEATURE$.	has_symptom
+c8853e424de014fa4f8813d3cb132cabeaedd8e3	The neuronal accumulation of glycosphingolipids appears to have no clinical effect on the natural history of @DISEASE$ with the possible exception of some reported mild @PHENOTYPICFEATURE$.	has_symptom
+b5ffb23ea16366ec08ed5f6b96593569063372d5	We report on three patients with untreated @DISEASE$; all have @PHENOTYPICFEATURE$ and normal serum levels of glucose and galactose.	has_symptom
+c24da6cc76ab9e8116ac1f76fc6b2168de8ebc52	Three cases of untreated @DISEASE$: a report on @PHENOTYPICFEATURE$ and brain calcification.	has_symptom
+22095c549e39eccbb03916822f01a32d1372e91c	There are only four previous reports of @PHENOTYPICFEATURE$ in untreated @DISEASE$ (PKU) patients.	has_symptom
+90e457622ae95a3f5d218db514a38dfb4fd2643a	To what extent @PHENOTYPICFEATURE$ and brain calcification occur with @DISEASE$ is unknown because of the lack of case reports addressing these symptoms.	has_symptom
+0731db067f551c3772b79b0a5e04028c64333f7e	@DISEASE$ and bilateral @PHENOTYPICFEATURE$ in a child with Turner syndrome: a case report.	has_symptom
+feb19cfc408fb4ea876668a8fa23231413ba8738	To report the first case in which @DISEASE$ was observed with infantile @PHENOTYPICFEATURE$ in a girl with Turner syndrome (TS).	has_symptom
+bf4ca875e2be9638f4b57cea796ddd203826d44b	Case 1 was a typical SLS, and case 2 was a rare one with fundus lesions simulating @DISEASE$, keratoconus, and @PHENOTYPICFEATURE$.	has_symptom
+0597c03bc7d8ba075032d2a5a68eb79ce76500a6	Infantile @PHENOTYPICFEATURE$, @DISEASE$, and ketotic hypoglycemia.	has_symptom
+62b242a7fa0a410cf85cb97708517e23e694c33d	@PHENOTYPICFEATURE$ development is frequent in children with @DISEASE$ and aggravates the visual?prognosis.	has_symptom
+7e438ef36e7d2c41e38fe087e48f096c8dfe3278	In this comparative case series, 22 consecutive patients with @DISEASE$ and 19 non-Coats' patients undergoing lensectomy for congenital, traumatic, or senile @PHENOTYPICFEATURE$ between January 2011 and June 2014 were included.	has_symptom
+839d43927c6afda060ec63c9a54b4dd1b743d041	The cohort included 20 children with retinoblastoma, @DISEASE$, @PHENOTYPICFEATURE$, amblyopia, or hyperopia and 20 control children.	has_symptom
+f56cf5dd04e8d1d97ea634dfb1ae52ac948b054b	Additionally, both eyes showed massive exudates seen in @DISEASE$ in the entire periphery, exudative retinal detachment, proliferative changes in the inferior periphery, yellow opacitas corporis vitrei, keratoconus, and @PHENOTYPICFEATURE$.	has_symptom
+f04b7c3226a30ae1ec1a6549d0cb8200294d7f8c	To describe the clinical features of @PHENOTYPICFEATURE$ during the course of @DISEASE$ and to determine its risk factors and effects on the long-term visual outcome.	has_symptom
+f8ee2ce49a91523a63520cf3f3344eedad3df163	Part 1--Uric acid was elevated in the aqueous humor of eyes with retinoblastoma, melanoma, and @DISEASE$ compared with eyes with @PHENOTYPICFEATURE$.	has_symptom
+87fd83b91eaa9596f718285e788c2babbefde19f	@PHENOTYPICFEATURE$ and transfusion requirements among Ugandan children with severe @DISEASE$ treated with intravenous artesunate.	has_symptom
+a9420a7f7b9b8b8ec790aaf7becfe5cddebf4a9d	Prevalence of @DISEASE$, HIV and @PHENOTYPICFEATURE$ were 19.7%, 3.1% and 17.2% respectively.	has_symptom
+1315544bda7083f29213d9ee356f72b84395ebcc	There is an association between pregnancy @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+dfe05fd7208a680252438cdea119447bf3bc92dc	@DISEASE$ and inflammation were associated with @PHENOTYPICFEATURE$, yet they explained only 25% of the population-attributable risk.	has_symptom
+f6218197249002fcf510b5354485c6bb0e9d39fd	In @DISEASE$ patients, @PHENOTYPICFEATURE$ and thrombocytopenia were significantly more frequent than in hepatitis patients.	has_symptom
+0e100ffddeeffbe3e0056cbed2688193bf8c9a20	Children's @DISEASE$ status was strongly associated to childhood @PHENOTYPICFEATURE$ with an aOR of 3.03 [95% CI?=?2.49-3.68].	has_symptom
+a350b44df9921f7237f1841c9f0ff644ce92d7b1	@DISEASE$ in pregnancy is associated with @PHENOTYPICFEATURE$, stillbirth, low birth weight and maternal and fetal death.	has_symptom
+db6688482c5d8173adad73193fbc91564bb9cef8	Dense monocyte infiltrates and presence of intramonocytic @DISEASE$ pigment were associated with @PHENOTYPICFEATURE$ and LBW.	has_symptom
+362c91481ad26fb7af06472647cf3778d86940ce	A rare cause of @PHENOTYPICFEATURE$ and thrombocytopenia in a newborn: congenital @DISEASE$.	has_symptom
+b4cb39db086cbf1d65a194d54d41172028af8f27	Overall, the prevalence of malaria, STHs, @DISEASE$-STH coinfection, and @PHENOTYPICFEATURE$ were 18.4%, 6.1%, 1.6%, and 19.8%, respectively.	has_symptom
+565032e0d11822661a70971bda7ff8e95389e4a6	Overall, the prevalence of @DISEASE$, STHs, malaria-STH coinfection, and @PHENOTYPICFEATURE$ were 18.4%, 6.1%, 1.6%, and 19.8%, respectively.	has_symptom
+bde9c0616e984f384d3b8f9ac268a16a5b235b85	Orthopaedic and @PHENOTYPICFEATURE$ in @DISEASE$: a review of the literature.	has_symptom
+7b11b562f0eab633b9d5183b7e5b9138aaaf4e55	@DISEASE$ (OI) is characterized by brittle bones, premature hearing loss, blue sclera, @PHENOTYPICFEATURE$, and short stature.	has_symptom
+c925609a748ff8724c133d77daac9395eec6648c	Osteogenesis imperfecta (OI) is characterized by brittle bones, premature hearing loss, blue sclera, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4d75fdba00e612be0a4e163b23eeb122833a3e09	Osteogenesis imperfecta (OI) is characterized by brittle bones, premature @DISEASE$, blue sclera, dental abnormalities, and @PHENOTYPICFEATURE$.	false
+12e2acfe69a017d7a275f810687a49e647f66934	@DISEASE$ (OI) is characterized by brittle bones, premature hearing loss, blue sclera, dental abnormalities, and @PHENOTYPICFEATURE$.	false
+ba1b0a646a2a172e1658256d67b19bfa939647b8	@DISEASE$ is a hereditary disease of the connective tissue, associated with bone fragility, bluish colouring of the sclerae, loss of hearing and @PHENOTYPICFEATURE$.	has_symptom
+08509879e7eb98638c5f41c40177b31f85524563	Two had @PHENOTYPICFEATURE$, one had congenital hip subluxation, and the youngest had @DISEASE$.	has_symptom
+2ae0b07c4d85a07e78dae3a46c50684e5bcd2ab5	Cases of congenital dislocation of the knee (CDK) not associated with @PHENOTYPICFEATURE$, @DISEASE$, and Larsen's syndrome can be treated conservatively.	has_symptom
+71c93cde1240ae2704551aeb1c6082b62ecc5753	When 51 patients with @DISEASE$ followed an average of 12 years were reviewed, @PHENOTYPICFEATURE$ was the most common foot and ankle deformity.	has_symptom
+f700687b8ec79bdb0b636e235a06f98d15a27114	Surgical treatment of @PHENOTYPICFEATURE$ deformity in @DISEASE$.	has_symptom
+5fb08b75c2dfd11202a2601789929b5a3a7bdb45	@DISEASE$ is a rare hereditary disorder characterised by three basic abnormalities, namely microstomia, camptodactyly with ulnar deviation of the fingers, and @PHENOTYPICFEATURE$.	has_symptom
+901405afc7ed7183148a6c156731b4cd78aa435a	Exemplarities of the teratologic types of @PHENOTYPICFEATURE$ are those associated with @DISEASE$.	has_symptom
+49a082041760ffa8301bc1eb7ad9bce304e2d396	Experimental @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+bc11a50e3f88a2b850e962bbfd4cabf18d45703f	We asked whether the contractile genes responsible for @DISEASE$ are also responsible for cases of familial @PHENOTYPICFEATURE$ or vertical talus.	has_symptom
+f1cbdd0c12c2efaa839dbce071aae6d64f9c0703	@DISEASE$ type I (DA-1) is a frequent cause of dominantly inherited @PHENOTYPICFEATURE$.	has_symptom
+6a7ef571278cd327be7503163753a3776c5415fc	An unusually high incidence of talocalcaneal coalition is reported in a group of patients with @DISEASE$ with resistant @PHENOTYPICFEATURE$ deformities.	has_symptom
+32eb5e0335c8ca37395c96edde1ec2d391f12fdd	This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the @PHENOTYPICFEATURE$ or fifth nail hypoplasia associated with @DISEASE$.	has_symptom
+3a019c299a6f21435dc351704841bb7aac709c7b	This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the hypertrichosis or fifth @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+335481438b1ce8f13cc0b5e17999feda5acf1ebf	This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the @DISEASE$ or fifth @PHENOTYPICFEATURE$ associated with Coffin-Siris syndrome.	false
+219e3a4c5fd1734e9c1a75a280e312096f069fd3	@DISEASE$ is characterized by nail hypoplasia of the fingers and toes, eyebrow @PHENOTYPICFEATURE$, prominent lips and prenatal or postnatal growth retardation.	has_symptom
+da0b545419abdb71fdc6a4a44822693c51b9c6b7	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation.	false
+2cf86d0ecec2776cb66ad527fe889df8229b84db	Coffin-Siris syndrome is characterized by @PHENOTYPICFEATURE$ of the fingers and toes, eyebrow @DISEASE$, prominent lips and prenatal or postnatal growth retardation.	false
+9ed072c2d7843bcac95958e771bc24aec4a535dd	Coffin-Siris syndrome (@DISEASE$, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, @PHENOTYPICFEATURE$, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits.	has_symptom
+4efdd8244f77dc7d6620f3cf1dac74870b6c2f1f	@DISEASE$ (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, @PHENOTYPICFEATURE$, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits.	has_symptom
+195271d7aa5df60071c2fad1fa7c4c284118f0d4	@DISEASE$ (CSS) is a rare intellectual disability syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/@PHENOTYPICFEATURE$, and sparce scalp hair.	has_symptom
+49443b41b71c13a74deff02587ffb5c5afbf7160	Coffin-Siris syndrome (@DISEASE$) is a rare intellectual disability syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/@PHENOTYPICFEATURE$, and sparce scalp hair.	has_symptom
+7494773166f002bd485aa37b528b28feba636f13	Coffin-Siris syndrome (CSS) is a rare @PHENOTYPICFEATURE$ syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/@DISEASE$, and sparce scalp hair.	false
+6f2c1c903b62f69e130feedc4516242978e01d98	Coffin-Siris syndrome (@DISEASE$) is a rare @PHENOTYPICFEATURE$ syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/hypertrichosis, and sparce scalp hair.	false
+7bb2da514ae9d441030a38a9dc545f82246fc9b9	@DISEASE$ (CSS) is a rare @PHENOTYPICFEATURE$ syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/hypertrichosis, and sparce scalp hair.	false
+7cbba449101096ac461e3fe9a268d08647a78c81	Coffin-Siris syndrome (CSS) is a rare @PHENOTYPICFEATURE$ @DISEASE$ classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/hypertrichosis, and sparce scalp hair.	false
+eb75e58898a72ee8af917c1751f250b2b1835883	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, @PHENOTYPICFEATURE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	has_symptom
+686d8a82264155fe9b7a769fab30725d985a731c	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, @PHENOTYPICFEATURE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	has_symptom
+efcb800e1a15ad15b4679eaa95e87b3db1206325	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @PHENOTYPICFEATURE$.	false
+5ba1bad996d65bf3121bb395b67d891a3caec498	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+9f964f7acc80849b4b218abe004709b6faaccf97	Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, @DISEASE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @PHENOTYPICFEATURE$.	false
+1687b696e54659c975e803d48c48817ac433b9b2	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+abe43afd32288bb0e21c9bd79edd9e47be4e70c3	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and @PHENOTYPICFEATURE$.	false
+93027fb43c7fec79c089aa954198b4f827ce8c8e	Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, @DISEASE$, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+88f6d0807dbc9776e13d740d588403127aafdb8b	The authors report a case of the @DISEASE$ which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body @PHENOTYPICFEATURE$, hypotonia and mental retardation.	has_symptom
+8bd5c476a9df29672c91588226cab856d87770d1	The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body @DISEASE$, hypotonia and @PHENOTYPICFEATURE$.	false
+93e891e132f0fd2aefc285116c21fbd71037e85c	The authors report a case of the @DISEASE$ which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and @PHENOTYPICFEATURE$.	false
+a08384e1c4a729b55778146b337987a9925b7fd4	The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital @DISEASE$ (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and @PHENOTYPICFEATURE$.	false
+738613f2b6224f9ef806ccd24e96a7950f52987e	This case report describes a patient with @DISEASE$ presenting with only @PHENOTYPICFEATURE$ after vaccination with anti-tetanus toxin.	has_symptom
+d267c996057bcd63fe4baa6d67085bca4df93764	We describe the clinical, laboratory, and radiological course of four MOG antibody-positive children who first presented with isolated @PHENOTYPICFEATURE$ without fulfilling clinical or radiological criteria for @DISEASE$ or other central nervous system demyelination syndromes, who months to years later developed more typical demyelination.	has_symptom
+0f3dcb4562793d6e575cdf124fc6c98e9c17136d	The @DISEASE$, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, @PHENOTYPICFEATURE$, hypogonadism, and absence of the patellae.	has_symptom
+e99f235803b7dd70386011e4937da4e6a6563902	The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by @PHENOTYPICFEATURE$, slender body build, craniofacial anomalies, microtia, @DISEASE$, hypogonadism, and absence of the patellae.	false
+5447282cd798446d061297db133bb6130109658c	The @DISEASE$, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by @PHENOTYPICFEATURE$, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae.	false
+2bf5e159f8035dc7a38fa73dc6d449ad921242b3	Other features of the @DISEASE$ included @PHENOTYPICFEATURE$, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery.	has_symptom
+22ba038950f52318c1d68635dba4e4925c59e710	Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and @PHENOTYPICFEATURE$ (@DISEASE$) due to R50P KCNJ11 mutation.	has_symptom
+b9df4a46b03302abdac0e1204e2083f8edb912aa	Selective aspects of @DISEASE$ not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe @PHENOTYPICFEATURE$; and types of abnormal growth in the craniofacial skeleton.	has_symptom
+412d5c921c1354b142d139111308401656d9b72a	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; @DISEASE$; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+616e850591754e82a8fa35df4905f8042d4ac242	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; @DISEASE$ phenotype associated with @PHENOTYPICFEATURE$ and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+622377f9bfeff3d0af3ad9bce555d04522fd4b1c	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe @DISEASE$; and types of abnormal growth in the craniofacial skeleton.	false
+5290357c88fdaca1b02632c719117a6dd005d2f6	Selective aspects of @DISEASE$ not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+410881d880f5d8ee1d5392f06f19295c78f0e746	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; brain malformations; @DISEASE$ phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+5d3062c8df0f6639ce4bfcb6301e37c53d7acaf4	Selective aspects of @DISEASE$ not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with @PHENOTYPICFEATURE$ and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+53d07ccf87c2b3fba1c9cc855834af1bb9035855	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; @DISEASE$; facial phenotype associated with @PHENOTYPICFEATURE$ and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+b40dc5bf63922663cf3b317e1d65ac381c780569	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with @PHENOTYPICFEATURE$ and severe @DISEASE$; and types of abnormal growth in the craniofacial skeleton.	false
+148d7c701fb1a02e26f9a312ff2b79e6096271d3	The authors report two cases of Brazilian children with most of the common syndromic features of @DISEASE$, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and @PHENOTYPICFEATURE$.	has_symptom
+3ad7a40a2df222b2f62ec82d95acaeb6501060a5	Sutural exostoses, rib hyperostoses, craniosynostosis, @PHENOTYPICFEATURE$ with focal fat deposition: @DISEASE$?	has_symptom
+e12a8d675cd625cf51270cbad26a86d7765cd4be	Sutural exostoses, rib @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$ with focal fat deposition: Proteus syndrome?	false
+2e1b6e337fb2a3e124582e99e409f072fb4fc229	Sutural exostoses, rib @PHENOTYPICFEATURE$, @DISEASE$, mental retardation with focal fat deposition: Proteus syndrome?	false
+4a63a03657ea90ebb578271b8818faabdfeba5fb	Sutural exostoses, rib @PHENOTYPICFEATURE$, craniosynostosis, mental retardation with focal fat deposition: @DISEASE$?	false
+8c34dd96fd0c870237b5668cb8cafd09da539ce3	Heterozygous somatic activating AKT1 mutation in a case of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+ec9f45bafc21bd1ed97d1d05aed5f27b37770fa7	@DISEASE$ (FD), a rare disease caused by osteoblastic lineage differentiation defects, is associated with @PHENOTYPICFEATURE$, fracture, and bone deformity, but few therapeutic options are available.	has_symptom
+9bd8389017c8295713a87fe420cde799ec5f9858	The clinical features are diverse, but the core manifestations are @DISEASE$, peripheral @PHENOTYPICFEATURE$, axial disease, enthesitis, and dactylitis.	has_symptom
+4ad0bde6d62132695e9c1489f2f4ac8975fe5cc3	Of course, an associated @DISEASE$ @PHENOTYPICFEATURE$ must be sought because it will influence the choice of treatment.	has_symptom
+5b751e0b4f5da8bb87cee9a873a2511d1524eb76	Duration of the disease averaged 12 years; all patients had @DISEASE$ and peripheral @PHENOTYPICFEATURE$.	has_symptom
+a2d827848a2eb1596883e8449e7650df7e0ff90f	It commonly affects the skin and musculoskeletal system causing @DISEASE$, peripheral arthritis, axial @PHENOTYPICFEATURE$, enthesitis and dactylitis.	has_symptom
+fc403902833bb6cae4c9fdd5710dde80ff8571cd	It commonly affects the skin and musculoskeletal system causing @DISEASE$, peripheral @PHENOTYPICFEATURE$, axial arthritis, enthesitis and dactylitis.	has_symptom
+273bff32775457171ffc467521cdfa19611a5821	The clinical spectrum of PsA sine @DISEASE$ is wide and identified by dactylitis and/or distal interphalangeal @PHENOTYPICFEATURE$, HLA-Cw6, and a family history of psoriasis.	has_symptom
+83d0c5e5dbce38a8ac329f85c34fb8c735de767a	The clinical spectrum of PsA sine psoriasis is wide and identified by dactylitis and/or distal interphalangeal @PHENOTYPICFEATURE$, HLA-Cw6, and a family history of @DISEASE$.	has_symptom
+920dfb88a0ab4cb7d14efc2d613add0e3c76c92b	Twelve patients had psoriasis alone, 13 had psoriasis and nail changes, six had DIP joint involvement with changes of psoriasis elsewhere, and 13 had @DISEASE$, DIP @PHENOTYPICFEATURE$ and nail changes.	has_symptom
+a88fc2805f3fe062a61d99fffea30e2d81336f02	Twelve patients had psoriasis alone, 13 had psoriasis and nail changes, six had DIP joint involvement with changes of @DISEASE$ elsewhere, and 13 had psoriasis, DIP @PHENOTYPICFEATURE$ and nail changes.	has_symptom
+03890bd6cae309f2caf30f53ba52b45f1bb8544a	Twelve patients had psoriasis alone, 13 had @DISEASE$ and nail changes, six had DIP joint involvement with changes of psoriasis elsewhere, and 13 had psoriasis, DIP @PHENOTYPICFEATURE$ and nail changes.	has_symptom
+44fe6bcc932e01ff72bb574ecf339996674ba6f2	A strong association of distal interphalangeal @PHENOTYPICFEATURE$ with @DISEASE$ and nail dystrophy was confirmed.	has_symptom
+affd25031c722b46bc12a212c3c4f300bab090c6	Nine patients had a systemic @PHENOTYPICFEATURE$ disorder, skin disease, or @DISEASE$ in their family.	has_symptom
+65c3a11463cf2828a3f9d20d68284cecfe432af9	Moreover, nail @DISEASE$ was also associated with distal interphalangeal joint @PHENOTYPICFEATURE$.	has_symptom
+2a3f96b0dc38ecf9637e2bf3ac7436baa86ababd	Treatment with adalimumab markedly improved axial disease, peripheral @PHENOTYPICFEATURE$ and enthesitis, regardless of history of @DISEASE$.	has_symptom
+f99a2335c9d584fc90d9d7e0b72c7c9bf9363a49	Three bedouin children with mitochondrial myopathy due to @DISEASE$ presented with progressive muscle weakness, @PHENOTYPICFEATURE$, proximal renal tubular acidosis, and lactic acidemia leading to death.	has_symptom
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+c790905b5ff795020d522c07eded2b8f75a7794c	Reversible paraparesis in @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+a8e8efd438fb24497f203c1170ec7aa099ba6a17	@DISEASE$ and @PHENOTYPICFEATURE$: one center's experience.	has_symptom
+b8e3f255ce80b897ec4f5f8b587f033083c53ee4	[Current prognosis of @DISEASE$ with @PHENOTYPICFEATURE$].	has_symptom
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+ba43b943581f7e1d6dcaa941a904f7faaa7e05c1	Current therapy of @DISEASE$ induced @PHENOTYPICFEATURE$.	has_symptom
+4d5a96056fc0af20e9af3d721635fd4fafd91687	Plasma exchange in @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+5575eee4e3b5f267e44f92d376e7685acf4db5e5	Improved survival in @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+597b9ece94296951526643181281a9c1c0c79316	@DISEASE$ (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, @PHENOTYPICFEATURE$, limb defects, growth retardation, and developmental delay.	has_symptom
+9c6588cc55fe075572359f82a3fe030b7737b0e5	Cornelia de Lange Syndrome (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic @DISEASE$ features, cleft palate, limb defects, @PHENOTYPICFEATURE$, and developmental delay.	false
+42f1bab05462bd2796a1e5955ff2bf68660f5851	@DISEASE$ (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, cleft palate, limb defects, @PHENOTYPICFEATURE$, and developmental delay.	false
+f5fbaa8cb3ac16ba8f2d985d2c35ea4ebcd33381	Cornelia de Lange Syndrome (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, @DISEASE$, limb defects, @PHENOTYPICFEATURE$, and developmental delay.	false
+a9eab60044a7fe1dadafb3c7251b450a3e01da8c	4 cases of @DISEASE$ with @PHENOTYPICFEATURE$ are presented.	has_symptom
+bf5bbed72a7f414b53dfdc535030949b318f9a09	We report anesthetic management of a 22-month-old child with @DISEASE$ scheduled for palatoplasty because of @PHENOTYPICFEATURE$.	has_symptom
+6125b5a544a1fb387e93ab7aa24eb135f4780339	The patient was an eight-year-old girl with @DISEASE$, @PHENOTYPICFEATURE$ and tetralogy of Fallot who underwent emergency hemicolectomy for strangulation ileus.	has_symptom
+aba51aa23e816e13efafd8d8148fc98e3866f380	The patient with @DISEASE$ had severe primordial growth failure with muscle-skeletal system such as @PHENOTYPICFEATURE$, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.	has_symptom
+ff294df0fc5153e611a1431aadc1c395f8ba3c53	The patient with @DISEASE$ had severe primordial growth failure with muscle-skeletal system such as cleft palate, @PHENOTYPICFEATURE$, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.	false
+c635f6fe7c6fe88925fecc21ac5aada7194b60db	The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as @DISEASE$, micrognathia, and micromelia of the extremities and @PHENOTYPICFEATURE$ as well as characteristic faces such as deep supercilia, etc.	false
+342d5dc6fa719c74497bf90d71c26eac9dc4ef79	The patient with @DISEASE$ had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and @PHENOTYPICFEATURE$ as well as characteristic faces such as deep supercilia, etc.	false
+681c55899772e44127cd6bcae4f0fcb26c7bbe50	The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as @DISEASE$, @PHENOTYPICFEATURE$, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+d04d68e5c0317c5d8706e5d3b430e9cf6b28f263	[@DISEASE$ with @PHENOTYPICFEATURE$: report of a case (author's transl)].	has_symptom
+d55dba5a19bee48c69fd4270f8ca2e157524d0a2	Respiratory arrest during an orthodontic impression of a @PHENOTYPICFEATURE$, in a baby with @DISEASE$.	has_symptom
+aa3f25b4c2c4ca574268ebb8702932867783d064	A five-year-old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of @DISEASE$, @PHENOTYPICFEATURE$ and additional minor congenital malformations of the cardiac system and fingers and toes.	has_symptom
+bf0a0aa30652fccf749618385d042b4878134397	A five-year-old girl was referred to prometaphase chromosome analysis because of @PHENOTYPICFEATURE$, facial dysmorphic features suggestive of @DISEASE$, cleft palate and additional minor congenital malformations of the cardiac system and fingers and toes.	false
+6abbe72b45f2230b2039f3027895093a6a922880	A five-year-old girl was referred to prometaphase chromosome analysis because of @PHENOTYPICFEATURE$, facial dysmorphic features suggestive of Cornelia de Lange syndrome, @DISEASE$ and additional minor congenital malformations of the cardiac system and fingers and toes.	false
+1ff493419afaab203c2952e46d58b425ad7efb1b	A five-year-old girl was referred to prometaphase chromosome analysis because of @PHENOTYPICFEATURE$, @DISEASE$ dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac system and fingers and toes.	false
+5dd54462d27837d06f9886ba5f052d363cc327fd	The dysmorphic abnormalities associated with @DISEASE$ may be expanded to include @PHENOTYPICFEATURE$, nuchal webbing, and hypospadias, while the presence of seizures and hypopituitarism extend the functional abnormalities found in these patients.	has_symptom
+589d75e87a7a569403c4831feb8b63f2e5b37946	The dysmorphic abnormalities associated with @DISEASE$ may be expanded to include cleft palate, nuchal webbing, and hypospadias, while the presence of @PHENOTYPICFEATURE$ and hypopituitarism extend the functional abnormalities found in these patients.	false
+1a02123cd3a5f51a1169341776f904dcaeeb0b71	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include cleft palate, nuchal webbing, and hypospadias, while the presence of @PHENOTYPICFEATURE$ and @DISEASE$ extend the functional abnormalities found in these patients.	false
+a08fcd6ad25a153c8d37eb809ea58b550365631f	The dysmorphic abnormalities associated with Brachmann-de Lange syndrome may be expanded to include @DISEASE$, nuchal webbing, and hypospadias, while the presence of @PHENOTYPICFEATURE$ and hypopituitarism extend the functional abnormalities found in these patients.	false
+bcd2335e84a540fde6fdf12fb9191f4b3b7b6e2a	We report the case of an 8-year-old boy with the phenotypic features of @DISEASE$ diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral @PHENOTYPICFEATURE$, and dorsolumbar kyphoscoliosis.	has_symptom
+5239b93e81054c916387775e6dc238b95c893d53	We report the case of an 8-year-old boy with the phenotypic features of @DISEASE$ diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, @PHENOTYPICFEATURE$, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis.	false
+f7a7d818c3f4e83e98e0899fbb168bca0995f17b	We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse @DISEASE$, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, @PHENOTYPICFEATURE$, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis.	false
+c9297a9c283de43caeafa1b3af433458e05cad1f	We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, @PHENOTYPICFEATURE$, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral @DISEASE$, and dorsolumbar kyphoscoliosis.	false
+4770fecc9e2fff9cd6dddff001098285d748eb73	We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched @DISEASE$, @PHENOTYPICFEATURE$, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis.	false
+c0e6a20f801b423168f91d305dcdc87c246facce	@DISEASE$ presents with acute respiratory failure, mild-moderate @PHENOTYPICFEATURE$, thrombocytopenia, and reactive lymphocytosis.	has_symptom
+c1d701c56bc550bf0562478df3ef6379dafdcd2a	Both, HFRS and HPS share some clinical aspects, however, hemorrhage and @PHENOTYPICFEATURE$ are the hallmark of HFRS, while respiratory problems are distinctive signs and symptoms of patients with @DISEASE$.	has_symptom
+e26348e12a3c0043a87b031ecaa6428de74a420f	Both, HFRS and @DISEASE$ share some clinical aspects, however, hemorrhage and @PHENOTYPICFEATURE$ are the hallmark of HFRS, while respiratory problems are distinctive signs and symptoms of patients with HPS.	has_symptom
+485a69577f8a6f99dba06ce46e52cfaf8aca6925	The patient's clinical course had many similarities to that of other @DISEASE$ patients in North and South America but was complicated by acute severe @PHENOTYPICFEATURE$.	has_symptom
+ea9a09c2e55546417ea3640db04836fa5534b5e8	Hermansky-Pudlak syndrome (@DISEASE$), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+994e752452bf001ec81a89986a06dd5b51ec6f90	@DISEASE$ (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+503d65765b31296044eca483be07078345533a70	@DISEASE$ (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and renal failure.	false
+1c70a1125c13f69e2f689d53ec6c7cac017e385d	Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and @DISEASE$.	false
+7f9790f795f268d4e27cdd12d0e8bd39a6f341e1	Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, @DISEASE$ and renal failure.	false
+35528eed731a7c99b1c6868093a812c6335e3f8c	Hermansky-Pudlak syndrome (@DISEASE$), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and renal failure.	false
+2cf1d7e86d1bd204f0f0ebd515c1ef5c592632db	Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous @PHENOTYPICFEATURE$, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, @DISEASE$, cardiomyopathy and renal failure.	false
+8b089a5340f468c60a7af5f9dd15f659d61a4915	ITGAM is associated with disease susceptibility and renal @PHENOTYPICFEATURE$ of @DISEASE$ in Hong Kong Chinese and Thai.	has_symptom
+84da9ac6d6bd85f334eb7d9ffcaf3f31fe9b9e47	After six year, massive proteinuria and serological findings developed and @DISEASE$ @PHENOTYPICFEATURE$ was diagnosed by kidney biopsy.	has_symptom
+66c4e6cdac9433cafbd048cef9bfa8178c9a7df3	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, IgA nephropathy, @DISEASE$ @PHENOTYPICFEATURE$, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	has_symptom
+f314657059dfb82583e87c26ead88a8d32942720	While the SNPs, rs17857295 and rs2326369, were found to be associated with the renal @PHENOTYPICFEATURE$ and arthritis of @DISEASE$ patient, respectively.	has_symptom
+2a9e5b181b3d4dd6adc167fb5236a5ee8e4b349a	Besides, the genotypes of rs3810936 and rs4979462 of TNFSF15 were significantly associated with butterfly rash, arthritis, serositis, renal @PHENOTYPICFEATURE$, hematological disorder, immunological disorder and positive antinuclear antibody (ANA) of @DISEASE$ patients (all P?<?0.05).	has_symptom
+bd37be55ac3edd5f5300baea0c0a95651bfd251d	Acute @DISEASE$ (ITP) in children is a benign disease, presenting mostly with skin @PHENOTYPICFEATURE$ and minor bleeds.	has_symptom
+9c02ad9d7bf9365f9d55c27f709aa2a5b1c7da27	Fryns @DISEASE$ is a rare syndrome with clinical diversity primarily including anophthalmia/@PHENOTYPICFEATURE$, facial clefts, cleft lip/palate, ear and nasal deformities.	has_symptom
+8dcf26df0b5204881c1847d95c2350c022f96351	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including @PHENOTYPICFEATURE$/microphthalmia, @DISEASE$, cleft lip/palate, ear and nasal deformities.	false
+f9dbbbaa223518f9b8b472dfd9cd52665b398b59	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including @PHENOTYPICFEATURE$/@DISEASE$, facial clefts, cleft lip/palate, ear and nasal deformities.	false
+a9dadbc82a99a821c85021655fd1f69589cbdde7	Fryns @DISEASE$ is a rare syndrome with clinical diversity primarily including @PHENOTYPICFEATURE$/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities.	false
+87f3b524fee47452bfbed2266298f0e33df188b8	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including @PHENOTYPICFEATURE$/microphthalmia, facial clefts, @DISEASE$, ear and nasal deformities.	false
+13b4b2c590cb18969161b7cd9b21c2a3cf99d51c	@PHENOTYPICFEATURE$ is commonly observed in children with @DISEASE$ and has been associated with protein malnutrition.	has_symptom
+3e25dcb04c23069f47bd7d58333061857ef89bf1	@DISEASE$-@PHENOTYPICFEATURE$-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested.	has_symptom
+bb25972b8c668d3f84b0efed691862103417b712	@DISEASE$-polydactyly-triphalangeal thumb syndrome is a distinct congenital @PHENOTYPICFEATURE$ complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested.	false
+8b5f67627785d992f04f08cfa8adc5c84ce6f17f	Tibial hemimelia-polydactyly-triphalangeal thumb @DISEASE$ is a distinct congenital @PHENOTYPICFEATURE$ complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested.	false
+7f318d63cdd42a1976fbae3d0c973dc25c182a7b	Tibial hemimelia-@DISEASE$-triphalangeal thumb syndrome is a distinct congenital @PHENOTYPICFEATURE$ complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested.	false
+e57c7fa0f705958c14ef5d900d3feeee0dbd0bc2	Although pregnancy was relatively safe among women with @DISEASE$, some women developed cyanosis, @PHENOTYPICFEATURE$, and heart failure, leading to elective cesarean section.	has_symptom
+3bbab8a2048b58b56d01ca414830f45f336639be	Although pregnancy was relatively safe among women with Ebstein's anomaly, some women developed cyanosis, @DISEASE$, and @PHENOTYPICFEATURE$, leading to elective cesarean section.	false
+478d60bf87f84b94b149ef194da6ebd81a851ee8	Although pregnancy was relatively safe among women with @DISEASE$, some women developed cyanosis, arrhythmia, and @PHENOTYPICFEATURE$, leading to elective cesarean section.	false
+6d6f11284f8c90e686b23ec97ec8aade830647c8	We present a patient who first exhibited evidence of intermittent preexcitation and associated symptomatic @PHENOTYPICFEATURE$ 9 years after tricuspid valve replacement for @DISEASE$, and describe the challenges posed by this case.	has_symptom
+92bb1874a4f2cef428828204e7dba7c0fa3635c7	@PHENOTYPICFEATURE$ in patients undergoing surgical repair of @DISEASE$.	has_symptom
+2dac02a578b66b7819119829e02e845674f24dfa	This can be explained by the interruption of accessory pathways that seem to be a major cause of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+4ecafcef6c32e449a7fd935e7d4a6e77903ffa5b	Analysis of 4 pituitary tumors, 2 adrenocortical tumors, 42 @DISEASE$, and 23 other mesenchymal tumors for IGF-II protein and mRNA showed that most mesenchymal tumors expressed IGF-II protein and mRNA, although only 4 of 48 patients had associated @PHENOTYPICFEATURE$.	has_symptom
+0a459d1316fa2e02cadf9f94a8b32d1805943c86	@DISEASE$ associated with non-islet cell tumor @PHENOTYPICFEATURE$.	has_symptom
+9e80e4e854c4eef56158f35b9ca66fb32abbeb55	[Spontaneous organic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+21bb14402268acc35470a3da87dc2c37f891371b	We reviewed 76 published cases of Doege-Potter syndrome, and non-islet cell tumor @PHENOTYPICFEATURE$ (NICTH) secondary to a @DISEASE$ (SFT) between 1989 and 2016, to study disease pathogenesis, diagnosis, and treatment of this rare paraneoplastic disease.	has_symptom
+6cba6140faf12c2aeafb1a9af6ac147ff9fc82cc	Three patients had an insulinoma and four had non-islet cell tumor @PHENOTYPICFEATURE$ (NICTH) due to hepatocellular carcinoma, colon carcinoma, meningeal sarcoma, and @DISEASE$, respectively.	has_symptom
+20ab3b9f7909417e78906d71b7f69a27167e0030	We report a patient with a nonresectable histologically benign @DISEASE$ who suffered from paraneoplastic non-islet cell tumor @PHENOTYPICFEATURE$ (NICTH).	has_symptom
+fc6281a5f1ef80aec23affc1c948bb93355e6a8b	This report describes a case of a patient with hypoinsulinemic @PHENOTYPICFEATURE$ and Leser-Tr?lat sign associated with a malignant @DISEASE$ with IGF2 secretion.	has_symptom
+f1a8358554b5e887051678807b6b29af2704843a	Doege-Potter syndrome presenting with hypoinsulinemic @PHENOTYPICFEATURE$ in a patient with a malignant extrapleural @DISEASE$: a case report.	has_symptom
+1ee288ec767226daa6c9ffc49cdfa71a9aee7b73	@DISEASE$ (SFT) is a prototypical mesenchymal neoplasm that induces non-islet cell tumor @PHENOTYPICFEATURE$ (NICTH) due to overproduction of insulin-like growth factor 2 (IGF2).	has_symptom
+9902be71aaf4c6a14b03d2592bfb1b70d1f29718	Malignant transformation of a @DISEASE$ of the liver and intractable @PHENOTYPICFEATURE$.	has_symptom
+66c4f24dd37901585477100f0a5875341e40ec01	Recognition and safe treatment of severe conditions such as @DISEASE$, thyroid crisis, and @PHENOTYPICFEATURE$ and hyperglycemic crisis may be lifesaving.	has_symptom
+64b89dd0d17f40d72a835d11892df7c4ebf31254	She developed spontaneous @PHENOTYPICFEATURE$ and symptoms of acute @DISEASE$ (hypotension, nausea, abdominal pain and tachycardia with small thready pulse), which responded to i.v.	has_symptom
+6a14df0f29e5dd8cb800f7049508d01f9ee2b717	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, @PHENOTYPICFEATURE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	has_symptom
+4caca9ff81d0e7413a4f1fe40678494a7f0664d9	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident @PHENOTYPICFEATURE$, hyperglycemia, @DISEASE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+5aadea36bbdd97281249ea26da92713bf107c2f6	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+a03732ddc8739b0abcccee1d18d574c11881a877	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, @DISEASE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+e17207c0576d72284aff474289157243041fca3a	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident @PHENOTYPICFEATURE$, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+153f51ac9f493f4204d7047152d508a2d9fe2578	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, heart failure and acute pulmonary edema, cerebrovascular accident @PHENOTYPICFEATURE$, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+49de6539135246aa1d70870a8dfb3757a18c9089	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+4f57087304b004d889568f6ef6658af45dbc82e7	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, heart failure and acute pulmonary edema, cerebrovascular accident seizures, @PHENOTYPICFEATURE$, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+91ca3542b9af4998298b75d414df1a747592ba19	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident seizures, hyperglycemia, @DISEASE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+f9329e814c4ab098a9378c16e2a00e16ea80cef0	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident seizures, @PHENOTYPICFEATURE$, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+5f802bd157106f2a01efaaf12ee28c12fc90f51a	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident seizures, @PHENOTYPICFEATURE$, @DISEASE$, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+6c3cdb9a9882f3cfab91e6671cf71446637f0ac4	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+2fc48e1a2d78f4a053f9a559476108b0457e9a8b	Vasodepressor syncope, orthostatic hypotension, acute adrenal insufficiency, hyperventilation, @DISEASE$, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+af33d37629410f3fc82710db45403c088e81677f	This case is a rare example in clinical practice of multiple pituitary hormone deficiency, that despite typical symptoms such as short stature, adrenal insufficiency (hypoglycemia, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of @DISEASE$ (severe symptomatic hyponatremia and @PHENOTYPICFEATURE$).	has_symptom
+d128f236bf1c97546469c5d5560be52f78040d0f	This case is a rare example in clinical practice of multiple pituitary hormone deficiency, that despite typical symptoms such as @PHENOTYPICFEATURE$, adrenal insufficiency (hypoglycemia, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of @DISEASE$ (severe symptomatic hyponatremia and hypoglycemia).	false
+c668c661d1f4c97c1eecce6b8cbf0e10bc067860	This case is a rare example in clinical practice of multiple pituitary hormone deficiency, that despite typical symptoms such as @PHENOTYPICFEATURE$, adrenal insufficiency (hypoglycemia, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of adrenal crisis (severe symptomatic hyponatremia and @DISEASE$).	false
+0c5b80e205f2cf5c96b63439e1beaec824a4724c	This case is a rare example in clinical practice of multiple @DISEASE$, that despite typical symptoms such as @PHENOTYPICFEATURE$, adrenal insufficiency (hypoglycemia, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of adrenal crisis (severe symptomatic hyponatremia and hypoglycemia).	false
+56e5a760b06cc0255b14995b283d83c275c24d8a	This case is a rare example in clinical practice of multiple pituitary hormone deficiency, that despite typical symptoms such as @PHENOTYPICFEATURE$, @DISEASE$ (hypoglycemia, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of adrenal crisis (severe symptomatic hyponatremia and hypoglycemia).	false
+83e440d1b38fc15b11c252e9bbeb3b3cdb7705be	This case is a rare example in clinical practice of multiple pituitary hormone deficiency, that despite typical symptoms such as @PHENOTYPICFEATURE$, adrenal insufficiency (@DISEASE$, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of adrenal crisis (severe symptomatic hyponatremia and hypoglycemia).	false
+97ab5d2e8f5b19821c4f08efae6d28a3ecd6e781	@PHENOTYPICFEATURE$ seizure and neonatal @DISEASE$ after maternal exposure to prednisone during pregnancy: a case report.	has_symptom
+44f907886cd983ba9e82590e6e2d4b3ba9fa209b	@DISEASE$ @PHENOTYPICFEATURE$ and neonatal acute adrenal insufficiency after maternal exposure to prednisone during pregnancy: a case report.	false
+20543504ada5c84725549126d71f63077b83677a	Hypoglycaemic @PHENOTYPICFEATURE$ and neonatal @DISEASE$ after maternal exposure to prednisone during pregnancy: a case report.	false
+c6c35e829987012dff5364e55f5574a67f182f70	She was doing well until she developed @DISEASE$ accompanied by severe metabolic acidosis, @PHENOTYPICFEATURE$, hypomagnesemia, and hypokalemia.	has_symptom
+c8aa3a0a3aff7574344b755001a3b19c8b99d448	She was doing well until she developed Addisonian crisis accompanied by severe metabolic acidosis, hypoglycemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+35cbd19562060c832f54b70120a953a2a03af11c	She was doing well until she developed @DISEASE$ accompanied by severe metabolic acidosis, hypoglycemia, @PHENOTYPICFEATURE$, and hypokalemia.	false
+8342a5022a02481357d238497b114f196d92c021	She was doing well until she developed Addisonian crisis accompanied by severe metabolic acidosis, @DISEASE$, @PHENOTYPICFEATURE$, and hypokalemia.	false
+5d64d3e519a1c5fe4ac522802b5ac819a050887e	A 19 year old male with type 1 diabetes and autoimmune hypothyroidism experienced recurrent severe @PHENOTYPICFEATURE$ over several months, despite a reduction in insulin dose, culminating in an @DISEASE$.	has_symptom
+77432ac2131e190c423afa4d05c6241560d68c6c	Hippocampal volume was measured using FL3D sequence magnetic resonance imaging in 26 Alzheimer's, vascular dementia, mixed @PHENOTYPICFEATURE$, and @DISEASE$ patients and 15 healthy controls and also hippocampal ratio, analyzed.	has_symptom
+81273f1186f1edd13790c5a2c0bfef61e8443cfa	Hippocampal volume was measured using FL3D sequence magnetic resonance imaging in 26 Alzheimer's, vascular @PHENOTYPICFEATURE$, mixed dementia, and @DISEASE$ patients and 15 healthy controls and also hippocampal ratio, analyzed.	has_symptom
+ab7d71eb8db815f5ca4c5e119eb1d3e98283d905	@DISEASE$ and the associated triad of @PHENOTYPICFEATURE$, apraxic gait and urinary incontinence may be casued by various, sometimes unsuspected, lesions, usually those that block the flow of cerebrospinal fluid (CSF) around the tentorium.	has_symptom
+4e85a2f8c1b85814a16ea58037a0d12c268a1c53	Adenosine Type A2A Receptor in Peripheral Cell from Patients with Alzheimer's Disease, Vascular @PHENOTYPICFEATURE$, and Idiopathic @DISEASE$: A?New/Old Potential Target.	has_symptom
+b2128031bf2a5108a3d6a58d6e9ebc5919b00331	The oculocerebrocutaneous (@DISEASE$) syndrome is characterized by the presence of orbital cysts and microphthalmia/@PHENOTYPICFEATURE$, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	has_symptom
+53735b6c284951bbbfb0864a1c6a67d6906b324f	The oculocerebrocutaneous (@DISEASE$) syndrome is characterized by the presence of orbital cysts and @PHENOTYPICFEATURE$/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	false
+2ca47f94d817df30a1b6d722300854a5e0b9b8f7	The oculocerebrocutaneous (OCC) @DISEASE$ is characterized by the presence of orbital cysts and @PHENOTYPICFEATURE$/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	false
+aae08c6e290c68a3f2a8a6da81faf591c5dc6905	The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and @PHENOTYPICFEATURE$/@DISEASE$, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	false
+668a94041cd641d881b67685e4fb9ac9bedee7e9	@DISEASE$ (OCCS) is characterised by orbital cysts and @PHENOTYPICFEATURE$ or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations.	has_symptom
+cc14819432aa32e14583c3996d1cd84854165671	@DISEASE$ (OCCS) is characterised by orbital cysts and anophthalmia or @PHENOTYPICFEATURE$, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations.	false
+0c9d009a8dfbd246f7fe2e65a803c0d56d72e0fb	Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and @DISEASE$ or @PHENOTYPICFEATURE$, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations.	false
+43c0405cbd58a210e4a2df7a2c8b94f8c7020853	@DISEASE$ (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/@PHENOTYPICFEATURE$, focal skin defects, skin appendages and multiple cerebral malformations.	has_symptom
+7d2d51cd609985350f4f328b6f9f2adfccbf6627	Delleman syndrome (@DISEASE$, MIM 164180) is characterized by orbital cysts, microphthalmia/@PHENOTYPICFEATURE$, focal skin defects, skin appendages and multiple cerebral malformations.	has_symptom
+653d776e93e3f5b172943983e4fefe206e0a13fb	Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, @PHENOTYPICFEATURE$/@DISEASE$, focal skin defects, skin appendages and multiple cerebral malformations.	false
+452f75e5e29386bd02dc154c8c405aa66bae8d3a	@DISEASE$ (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, @PHENOTYPICFEATURE$/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations.	false
+074625d6e43d1de9d97d5a18fe437d7fa35adb11	Delleman syndrome (@DISEASE$, MIM 164180) is characterized by orbital cysts, @PHENOTYPICFEATURE$/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations.	false
+c6174bcc59fda05029ee65923e607621ce2b5084	@DISEASE$ consists essentially of orbital cysts and microphthalmia/@PHENOTYPICFEATURE$, focal dermal defects, skin appendages and malformations of the central nervous system.	has_symptom
+748d376482a63789636b938dc35c6e75b8d940a4	@DISEASE$ consists essentially of orbital cysts and @PHENOTYPICFEATURE$/anophthalmia, focal dermal defects, skin appendages and malformations of the central nervous system.	false
+19d3806d65ebd6572d49ba2444778e9986986f7e	Oculocerebrocutaneous syndrome consists essentially of orbital cysts and @PHENOTYPICFEATURE$/@DISEASE$, focal dermal defects, skin appendages and malformations of the central nervous system.	false
+91ea8d79cebaeef7b84f5bc18aac0c67f7b2a1e1	@DISEASE$ and @PHENOTYPICFEATURE$ with a novel SOX11 mutation.	has_symptom
+6927acc6569e066eb1ec500280db4268ab2333c9	Congenital @DISEASE$ may be associated with an unroofed CS, a coronary artery-coronary sinus fistula, or other @PHENOTYPICFEATURE$.	has_symptom
+ec36bb32a5a7f4ab7e5ebb477bfda1931efa3527	We report a case of type-A @DISEASE$ (CSS) with a unique constellation of @PHENOTYPICFEATURE$.	has_symptom
+08fedb7c12a4f53ab74e0c717da8790787c7ca4d	We report a case of type-A Coffin-Siris syndrome (@DISEASE$) with a unique constellation of @PHENOTYPICFEATURE$.	has_symptom
+8cdf9e889c4710d45778018807494d18ecd104ff	The aim of the study was to evaluate the presence and spectrum of @PHENOTYPICFEATURE$ identified by cardiac magnetic resonance (CMR) in subjects in clinical remission of Churg-Strauss syndrome (@DISEASE$) and granulomatosis with polyangiitis (Wegener's) (WG) with normal ECG and transthoracic echocardiography (TTE).	has_symptom
+784228708f330e6198de30847bfcaac34ef6dc8b	To evaluate the effects of immunosuppressive therapy on @PHENOTYPICFEATURE$ observed by cardiac magnetic resonance imaging (CMRI) in patients with Churg-Strauss syndrome (@DISEASE$).	has_symptom
+e35a054ba7963e488d3adfce2ff58875ab14034f	This study examined the effects of GnRHa therapy in both genders and in subjects treated for @DISEASE$, early puberty or @PHENOTYPICFEATURE$.	has_symptom
+9e9b3038c3e4046c2c7ae09dd6e8700887e6ab8d	This study examined the effects of GnRHa therapy in both genders and in subjects treated for CPP, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+ce334c11e424041e5993684ccf89b6364fc3711a	This study examined the effects of GnRHa therapy in both genders and in subjects treated for @DISEASE$, @PHENOTYPICFEATURE$ or short stature.	false
+3366bf58d649b54d7a3e9978f83e378a9f49fc08	METHODS: This is a retrospective monocentric study of all brain magnetic resonance imaging (MRI) examinations performed under the same technical conditions for checking the idiopathic nature of @PHENOTYPICFEATURE$ (ISS group, n?=?116) and for the investigation of central precocious puberty (@DISEASE$) over a 3-year period (n?=?56).	has_symptom
+d3173a3d9824397c16f29c85c3c312fab5129173	Combination therapy with GnRH agonists and somatropin has also been shown to increase adult heights to a greater extent than GnRH agonists alone in pediatric patients with concomitant @DISEASE$ and GH deficiency, those with idiopathic @PHENOTYPICFEATURE$, and those born small for gestational age; however, such combination therapy has shown no increased benefit over somatropin alone in pediatric patients with GH deficiency.	has_symptom
+d3008d38368d063b7e8b9d63c90a886d775bf53c	@DISEASE$ is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with @PHENOTYPICFEATURE$ and neuropathy.	has_symptom
+e1fafa34e303dd72ee73a9cf20255c97cff08cc6	Cerebrotendinous xanthomatosis is an inherited @DISEASE$ manifesting with infantile onset diarrhea, @PHENOTYPICFEATURE$, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.	false
+22c7c05fe8ada63de3e4ca7e9724e63b6c93a562	Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, @PHENOTYPICFEATURE$, xanthomas and adult-onset neurological dysfunction with cerebellar signs and @DISEASE$.	false
+4030d01b981062af6e5b0086cd189f95e640c1cf	@DISEASE$ is an inherited lipid storage disease manifesting with infantile onset diarrhea, @PHENOTYPICFEATURE$, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.	false
+08d6215bae410d4739bda4772188361f424c7007	Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, @PHENOTYPICFEATURE$, xanthomas and adult-onset neurological dysfunction with @DISEASE$ and neuropathy.	false
+7ebe25f7e14bc827eeaf92dfdd476c66520248c9	Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset @DISEASE$, @PHENOTYPICFEATURE$, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.	false
+05b397fd45d08837a6218434564f17fbf0f26831	Of our 32 patients with @DISEASE$, 31 (97%) had cataracts and neurological signs and symptoms, predominantly pyramidal signs (26 [81%]); 21 (66%) had low intelligence and 18 (56%) had @PHENOTYPICFEATURE$.	has_symptom
+bd71c72a266d9bc1e8c90595144067f42d238a91	Of our 32 patients with @DISEASE$, 31 (97%) had @PHENOTYPICFEATURE$ and neurological signs and symptoms, predominantly pyramidal signs (26 [81%]); 21 (66%) had low intelligence and 18 (56%) had cerebellar signs.	false
+aa2b84c1ea810893e3d304cee1df043b364348b6	Of our 32 patients with CTX, 31 (97%) had @PHENOTYPICFEATURE$ and neurological signs and symptoms, predominantly pyramidal signs (26 [81%]); 21 (66%) had low intelligence and 18 (56%) had @DISEASE$.	false
+78a845a21fdb212b1d9bdcef343c2731159050ce	@DISEASE$ is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$ and seizures).	has_symptom
+8a1fb924278e41d14bf4a2ace1b64d8d586ed939	CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or @DISEASE$ and @PHENOTYPICFEATURE$).	false
+c22c6b88b6d509bc1ca1998efee6616628e211ba	@DISEASE$ is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and @PHENOTYPICFEATURE$).	false
+e43cb34ebac6695040a5e007491fa1c3afa25452	CTX is characterised by childhood-onset @PHENOTYPICFEATURE$, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or @DISEASE$ and seizures).	false
+50d4fb22c44e2ec1dab3154c5e59ab28623e290f	CTX is characterised by childhood-onset @PHENOTYPICFEATURE$, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (@DISEASE$, psychiatric disturbances, pyramidal and/or cerebellar signs and seizures).	false
+7bc3441d4d7018d8542cfb0fb4d7a6899621e938	@DISEASE$ is characterised by childhood-onset @PHENOTYPICFEATURE$, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs and seizures).	false
+bbadf38b3f52dbcd208bee0db5c460368fa25a75	CTX is characterised by childhood-onset cataract, adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (@DISEASE$, psychiatric disturbances, pyramidal and/or cerebellar signs and @PHENOTYPICFEATURE$).	false
+84019aeff76f8e48fbf463c30b070e4400449da6	She showed intellectual impairment, bilateral pyramidal tract sings, slight @PHENOTYPICFEATURE$, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in @DISEASE$ (CTX).	has_symptom
+b2b362b7ad3a4d11948e02ff5f92d1ad43e2429d	She showed intellectual impairment, bilateral pyramidal tract sings, slight @PHENOTYPICFEATURE$, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in cerebrotendinous xanthomatosis (@DISEASE$).	has_symptom
+8a29b8972d637e77b4ebd697238e2e0f4c9a6591	She showed @PHENOTYPICFEATURE$, bilateral pyramidal tract sings, slight @DISEASE$, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in cerebrotendinous xanthomatosis (CTX).	false
+7b1d29eb227634da19e510581308f051ea88d866	She showed @PHENOTYPICFEATURE$, bilateral pyramidal tract sings, slight cerebellar signs, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in cerebrotendinous xanthomatosis (@DISEASE$).	false
+ac9bd60725530362a4319bfa99d75bf28adbdb0d	She showed @PHENOTYPICFEATURE$, bilateral pyramidal tract sings, slight cerebellar signs, and degenerative changes of brain white matter on CT and MRI, which were similar to symptoms and signs in @DISEASE$ (CTX).	false
+b494c767476390c7faa7fcc5cc08287a5be847d5	A 39 year old patient with @PHENOTYPICFEATURE$, juvenile cataracts, and dull normal intelligence had @DISEASE$ without tendon xanthomas, diagnosed previously as Marinesco-Sjoegren syndrome.	has_symptom
+0668cb7d3e89f6f716bca40497594aa32f55fafc	Clinical characteristics of @DISEASE$ are diarrhoea, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or @PHENOTYPICFEATURE$, and seizures.	has_symptom
+86e55fa0991e383d3a4fcfc539632df25a84f8d0	Clinical characteristics of @DISEASE$ are diarrhoea, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and @PHENOTYPICFEATURE$.	false
+84609cc5ba62a3fdcf6fe3fa4694b38e3e77b273	Clinical characteristics of CTX are @DISEASE$, @PHENOTYPICFEATURE$, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and seizures.	false
+c491a4dea28cf447c01218f10d3c92b5d1f165cf	Clinical characteristics of CTX are @DISEASE$, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and @PHENOTYPICFEATURE$.	false
+24538dc1cded102dd2b01b93ca652fda96574d96	Clinical characteristics of @DISEASE$ are diarrhoea, @PHENOTYPICFEATURE$, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and seizures.	false
+30d7923e328deccc483eb875dbc111febe2c88a1	Clinical characteristics of CTX are diarrhoea, cataracts, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or @DISEASE$, and @PHENOTYPICFEATURE$.	false
+03fe4be00332e2a224f78c89195a47ad092357f8	Clinical characteristics of CTX are diarrhoea, @PHENOTYPICFEATURE$, tendon xanthomas and neurological manifestations including dementia, psychiatric disturbances, pyramidal and/or @DISEASE$, and seizures.	false
+a3bb345a8ae899ee5206376dba7950093a71de3f	A 34-year-old patient demonstrating pyramidal and @PHENOTYPICFEATURE$, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	has_symptom
+35d76a6bd9cbd203c58beedf21683b96e9e21bed	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+52b7a8e2475511b9cf90a614ca5d2bfc5047e296	A 34-year-old patient demonstrating pyramidal and @DISEASE$, accompanied by epilepsy, peripheral neuropathy, @PHENOTYPICFEATURE$ and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+bd3d048c926ab9ce5d2a310141696c196332a060	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, @PHENOTYPICFEATURE$, mental retardation and bilateral cataract was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+cc30adafe143307438de3961539d9db854f447aa	A 34-year-old patient demonstrating pyramidal and @DISEASE$, accompanied by epilepsy, @PHENOTYPICFEATURE$, mental retardation and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+90a3f613d690f806a070ca138105dc5c0b7fe952	A 34-year-old patient demonstrating pyramidal and @DISEASE$, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral @PHENOTYPICFEATURE$ was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+976a5d7b9128059fae15e699c98fa76410850bb1	A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, @PHENOTYPICFEATURE$ and bilateral cataract was diagnosed with @DISEASE$ based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis.	false
+099f55a3dde9aa8d206611b7c32f4b1213ba151d	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	has_symptom
+04860a1bab63b6122c80335a4c922f680e162806	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @PHENOTYPICFEATURE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	has_symptom
+5a5b8caf3240018c00d5fc08ec0380d1c0aa1457	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as @DISEASE$, cataract and tendon xanthomas).	false
+ef282edb393b69a59100db2b5c8aa79c51e45e11	Unusual @DISEASE$ represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+cb239a108dbb54e95894d8f8a37965dd9c5d4a37	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+8af5872bb0015842fcb64492f94981202da76dd5	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @DISEASE$) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+a736ae594aa1e0b345939ac71b804de0c368364a	Unusual @DISEASE$ represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+5a5f42f284fb353010a21536be4998851cb2f686	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and @DISEASE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+cbea19374763f052e1f9615023204ac6965a4eef	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+5a919bf4f5070993319e5072a0a21ff38b6f26f2	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+0ba6a2ac405c2c8b96e5f0660f6dad5159791f9f	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+a5de8514824d5bac356ae3f6ae7daa5051989669	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+9a8d3dc0114caa1ff1feb6ed7b6ae5ae00d85fa5	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+9b860c74f0ededdbcc06f40742e54eedd729792b	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and @DISEASE$) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+d6f381fd94c2df629f77180c8328a3d9b84fda68	Unusual @DISEASE$ represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+f5bdf81420814bf7228c83be5b189ff5f625ca21	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially @PHENOTYPICFEATURE$, pyramidal and cerebellar signs) and/or with systemic features (such as @DISEASE$, cataract and tendon xanthomas).	false
+cc891b8c8f4aeb22f509a92652aca173f8362b7b	Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as @DISEASE$, @PHENOTYPICFEATURE$ and tendon xanthomas).	false
+33aab50e864881c0828f9e1c0fec687b0ec4f21d	@DISEASE$ associated with @PHENOTYPICFEATURE$: a case series.	has_symptom
+961844e42c3e8be9db5f26dbcb0b50fe96cf9bcf	In an 87-year-old woman suffering from a @DISEASE$ that had caused @PHENOTYPICFEATURE$ of the left eye, a basal-cell carcinoma was removed from the right side of the nose.	has_symptom
+6683c9818975bcbdb7b2af4f1a833133ec843ebd	We present a case of @PHENOTYPICFEATURE$ and Anton's syndrome in a psychiatric patient with late diagnosis of a giant frontal @DISEASE$.	has_symptom
+9113d2f6300c4f47e0acdb4cf6091eadd913a145	The current outlook is that the 'Robinow-Sorauf' families are examples of @PHENOTYPICFEATURE$ of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the @DISEASE$.	has_symptom
+7e4006c0a3f04adb0d28ada71e7d823c16c6b45c	A young child with @DISEASE$ is discussed, who presented with @PHENOTYPICFEATURE$, involuntary movement, mental retardation, and decreased vision since birth.	has_symptom
+1c9108f65d6db0e19f50e3f2fe7ea8ef3f575abb	A young child with @DISEASE$ is discussed, who presented with behavioral abnormalities, involuntary movement, @PHENOTYPICFEATURE$, and decreased vision since birth.	false
+1a55db52ef84e08555d3ca7adc83b6f72f25c772	A young child with homocystinuria is discussed, who presented with @DISEASE$, involuntary movement, @PHENOTYPICFEATURE$, and decreased vision since birth.	false
+1ed9a818f587e8606adb5b1a3a5ea3754b6788fb	A 69-year-old man with @DISEASE$ presented with a 6 month history of gradually blurring vision resulting from early @PHENOTYPICFEATURE$ that 1 month later had reduced visual acuity to hand movement in both eyes.	has_symptom
+3ba79dfcdf00c0959dfe298313d50123e7fefc74	A 69-year-old man with @DISEASE$ presented with a 6 month history of gradually blurring vision resulting from early lens opacities that 1 month later had @PHENOTYPICFEATURE$ to hand movement in both eyes.	false
+42533ac8f7b504a2df0f47d7c66e8472d1871e10	A 69-year-old man with Cronkhite-Canada syndrome presented with a 6 month history of gradually blurring vision resulting from early @DISEASE$ that 1 month later had @PHENOTYPICFEATURE$ to hand movement in both eyes.	false
+28b1f2d570d370e5eed921c03bff44afaeeca586	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, @DISEASE$, chondroblastoma, osteoblastoma and @PHENOTYPICFEATURE$), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	has_symptom
+b0492b82e3b0eef3efd19615c7790b780dfe3b2e	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), @DISEASE$ (1 case), lung (1 case) and oral cancer (1 case).	false
+d0a826db34963e42d6b73d2ca89d4ec1d450641f	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, @DISEASE$, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+cd5a155b852cda0532e5d1ded9defe93e616b72b	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, @DISEASE$, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+37c09df11dd3baccc5979133730b7e0bea3f8163	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including @DISEASE$, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+d4b672fd6d1a35a61cd889051ca9911e360f9535	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), @DISEASE$ (1 case), lung (1 case) and oral cancer (1 case).	false
+1501aa1e3c8b403c2d0a6f11e88982ae938ca4b0	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and @DISEASE$), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+7482a159a4e44fe8971a066869e3f481d61b00ee	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), @DISEASE$ (1 case), lung (1 case) and oral cancer (1 case).	false
+f0e86ff5ef10de24bb19462d914f476196121866	Clinically, 77 cases (48.1%) were misdiagnosed as @DISEASE$ (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+ed66b2b8dca0e1eee84326cd9fb4dda67c592383	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, @DISEASE$, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+ddcc7448779cb68e8b4d4649a219ccea35a56668	Clinically, 77 cases (48.1%) were misdiagnosed as @DISEASE$ (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+102c3aa3c5801d3a9ac4027dc8d60c8e1e0667a2	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, @DISEASE$, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+19371ce92892f5e2808347122e77bc946cbb3d9c	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including @DISEASE$, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+1f150840861462b9cb054cf93bd02b9b99b3f1b2	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and @DISEASE$), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+46029cf19306c5a13b6d3022c7772404db3c3ec7	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases @DISEASE$ (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+0d16882726372dba842aa249da7a42199ad0f748	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, @DISEASE$, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+6640b7fa29d4a7d11fab24c7425d028c6489afe7	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and @DISEASE$ (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+70911d6c9fab76c0fae26dbacfc43bdc416f8ac6	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases @DISEASE$ (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+a88a548074b3d8991fc4c436492098ba1f11b2fd	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone @DISEASE$ (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+08a0b2d3322417a5a80dbb7139cc97f645970eaa	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone @DISEASE$ (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+d326f72e512ead9c1b79b6eeb5cde8550112a079	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and @DISEASE$ (1 case).	false
+292bdd11f314c027f1a6cdd022c061cf4be6a4d6	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases @DISEASE$ (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+50351d61347f035f49aa0bcde1c45eab99a1b3d2	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and @DISEASE$ (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+f7bfb5b0fb5cc8098bc03778178dccda488b828a	Clinically, 77 cases (48.1%) were misdiagnosed as @DISEASE$ (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+cc2e11b30c0face6a8fe3fb9073a0f5b1e9c3f31	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, @DISEASE$, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+5bf6853f80b4e4601515e645b5516207202ebdbb	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone @DISEASE$ (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+8015ec1725d3dd472936b7c8918e7798fcd90c3f	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and @DISEASE$ (1 case).	false
+613e8fb63ddb4352a8d8464df3210bfa59f89962	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including @DISEASE$, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+6af200dbd24634dc86a939d2202478791788ae63	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), @PHENOTYPICFEATURE$(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and @DISEASE$ (1 case).	false
+ebee2586eea0f3c89b2786b800bdd4d2454c857a	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, @PHENOTYPICFEATURE$ and @DISEASE$), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+1e34f12fefd95e3d25b70d37e239ec3b84139c57	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and @DISEASE$ (5 cases) , skin (4 cases) diseases malignant lymphoma (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+6499c2217eda0fb82459ce11e3ff2f334087eb54	A 55-year-old woman was admitted to our hospital because of chest pain, @PHENOTYPICFEATURE$, and right pleural effusion that was exudative and lymphocyte-dominant with a high level of adenosine deaminase (@DISEASE$).	has_symptom
+dfc6cb7b664a0bfbd6ab40f4a1ee8c43065b1c05	@DISEASE$ (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	has_symptom
+8deb29af99d8cd8efe125b80c512588033168ca4	Acromelic frontonasal dysostosis (@DISEASE$) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and @PHENOTYPICFEATURE$.	has_symptom
+f95715066b586c83f9e83b5b9fe55a360e6c6b94	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including @DISEASE$, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	false
+d4469e2a487960900f0fc7aeba3f6ee2590cefe8	Acromelic frontonasal dysostosis (@DISEASE$) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	false
+c2e11dca74a00c99168d983e3756503ed7caa8bc	Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and @DISEASE$.	false
+843c2b58931d5163eff5d5415274e9ed5869fcbd	@DISEASE$ (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, @PHENOTYPICFEATURE$, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability.	false
+24f89097078baaa0b71197ace412ebbd52697fce	Desbuquois dysplasia (@DISEASE$) is a rare skeletal dysplasia characterized by @PHENOTYPICFEATURE$, laxity, dislocation of multiple joints and developmental delay.	has_symptom
+f1b9edbfb10750d186006deb27673de93be8b870	@DISEASE$ (DBQD) is a rare skeletal dysplasia characterized by @PHENOTYPICFEATURE$, laxity, dislocation of multiple joints and developmental delay.	has_symptom
+0c44c0490c17c0eb88824d4eee04252514e0aa3f	Desbuquois dysplasia (DBQD) is a rare @PHENOTYPICFEATURE$ characterized by @DISEASE$, laxity, dislocation of multiple joints and developmental delay.	false
+12cf9e239aa64cfe655ebde8cc144e6ae7dbb041	Desbuquois dysplasia (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay.	false
+f481932c20e6afbdacab95bbaa8829fd985d3fd1	@DISEASE$ (DBQD) is a rare @PHENOTYPICFEATURE$ characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay.	false
+6c40e2bb992f16af608a3b8825fcf58cd77ee430	@DISEASE$ presenting with severe neonatal @PHENOTYPICFEATURE$, spondylo-epiphyseal dysplasia and advanced carpal bone age.	has_symptom
+144e330b1a296bbe1564741134af6ea1eb3e9920	@DISEASE$ (CRPS) type I is a symptom complex of severe, chronic @PHENOTYPICFEATURE$, often associated with allodynia, vasomotor, and sudomotor changes.	has_symptom
+38c22e56835668711a813551a554ee713f5b275b	In the following section, the application of functional and structural imaging techniques is shown in selected chronic pain syndromes (chronic back pain, fibromyalgia syndrome (FMS), phantom @PHENOTYPICFEATURE$, and @DISEASE$ (CRPS)), and commonalities and peculiarities of imaging correlates across different types of chronic pain are discussed.	has_symptom
+7eb9215d73e42c357243e6138fbea7d70caf469e	To date, the molecular mechanisms of five such syndromes have been largely clarified, including glucocorticoid-remediable aldosteronism, @DISEASE$, apparent mineralocorticoid excess, an activating mutation of the mineralocorticoid receptor, and pseudohypoaldosteronism type 2. Each of these conditions features salt sensitivity with increased sodium and volume reabsorption by the kidney and @PHENOTYPICFEATURE$.	has_symptom
+378f0e5422b843a69dfd982280c69a7a3e992152	ACTB and ACTG1 mutations have recently been reported to cause @DISEASE$ (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and @PHENOTYPICFEATURE$.	has_symptom
+1892eba497b2483e72d0da48808ca00cbb1c52cb	ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by @PHENOTYPICFEATURE$, colobomata, neuronal migration disorder, distinct facial anomalies and @DISEASE$.	false
+53f12fb173056475811966e7ef837b6fd28f1e21	ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by @PHENOTYPICFEATURE$, colobomata, neuronal migration disorder, distinct @DISEASE$ anomalies and intellectual disability.	false
+35ea5f3c02b6c745787b087c6556ad6e899bffac	ACTB and ACTG1 mutations have recently been reported to cause @DISEASE$ (BRWS) - a rare condition characterized by @PHENOTYPICFEATURE$, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability.	false
+876d61f45efb566cfd0e2b1b3f75add2080cf541	Iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$: @DISEASE$ or Noonan syndrome?	has_symptom
+ea7b6d3eb622d8b64139713212b67de6c2f870e7	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+b3d8cd4dafc7a937415762ba33e5c6e91be64eac	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: Baraitser-Winter syndrome or @DISEASE$?	false
+94f642b387320b5a41846549c887504c88a8dd0b	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+f6a11d4a34a4f4427eb11ad09aa79e0b82658b77	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+2bb5087a55b325a1fcb46d023c93078dc3718489	Iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and @DISEASE$: Baraitser-Winter syndrome or Noonan syndrome?	false
+b920b3cd083b26243f8464e9fcd7d081b1e1d07e	Iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation: @DISEASE$ or Noonan syndrome?	false
+24fff3150d96da5d2bc608a0a4ff357c876caa9b	@DISEASE$ was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Baraitser and Winter 1988; Baraitser, 2016).	has_symptom
+5a9c9f5d06edc7d7f9da910c7f665369fc48fac7	Baraitser-Winter syndrome was first described as a syndrome of iris @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+37f7ea3f1e87422be4764bb8778ea0bcc4d10537	@DISEASE$ was first described as a syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+594929f7fdc9fb3ad74e2ea26e6efbcc20f20788	Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+1e21bfba1e350118fce577e030b97deaa208c53b	Baraitser-Winter syndrome was first described as a syndrome of iris @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+143c75ad45ef96ba04e96d2a144f687007286281	@DISEASE$ was first described as a syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016).	false
+f9678f8a86d69a64cce7551d0d47c3c7acffd532	Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and @DISEASE$ (Baraitser and Winter 1988; Baraitser, 2016).	false
+9c96873a7f2bbd567af6a0704e2078242c30933f	In humans, postulated gain-of-function missense mutations cause @DISEASE$ (BRWS), characterized by @PHENOTYPICFEATURE$, cortical malformations, coloboma, sensorineural deafness, and typical facial features.	has_symptom
+b10e60652db6a962940314626c50321ce80815cc	In humans, postulated gain-of-function missense mutations cause @DISEASE$ (BRWS), characterized by intellectual disability, cortical malformations, coloboma, @PHENOTYPICFEATURE$, and typical facial features.	false
+38f84cb32e36bcef2cf6f5ef0d11d68a18a517b7	In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by @DISEASE$, cortical malformations, coloboma, @PHENOTYPICFEATURE$, and typical facial features.	false
+a210d1bd0d522c44a972ed7719205f526fd4b1a1	In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, @DISEASE$, @PHENOTYPICFEATURE$, and typical facial features.	false
+87f065472c0844a23e78a861220db5e877cac7c3	We also point to the clinical overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share similar dysmorphic features (wide, short nose with a large tip, cleft lip and palate, blepharoptosis, retrognathia, and craniosynostosis), although @PHENOTYPICFEATURE$, neuronal migration defect, and muscular problems remain largely specific to @DISEASE$.	has_symptom
+24f3b8d7597a6282f503d0b906437de7be1e2b4a	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	has_symptom
+fce05582d78226f5dfe4a907a971017181a557be	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @PHENOTYPICFEATURE$ syndrome of unknown etiology.	has_symptom
+047497597e58c09cb2ab554a2e78cb370727c5c9	@DISEASE$ (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+3ad3e8b73fbb820364795aa121929d96e9d354f3	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and @DISEASE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+a76992621cecb1e87a2186dfc2a5ef3afb767009	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+0fd62cdf48bb1f2f095ed476693b10bc3db70389	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation @DISEASE$ of unknown etiology.	false
+7552690bfc2e5e002c36f0e6fcd7b99f571089dd	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple congenital anomaly or a @DISEASE$ syndrome of unknown etiology.	false
+669b4760b30146b4ee7888b5b76ec39d71298c5d	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation; it is a rare multiple @DISEASE$ or a mental-retardation syndrome of unknown etiology.	false
+e24168ed285741c65b2c62ef880eb02469a35ef3	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation @DISEASE$ of unknown etiology.	false
+c53e58dd6ffdac19ea8574d6b929d6ff02b119a9	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+45ccf6844aeae559541c4a762c0296c32fd38aa7	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a @DISEASE$ syndrome of unknown etiology.	false
+a581df267218e27baff9751e56a93de2811c31c5	Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple @DISEASE$ or a mental-retardation syndrome of unknown etiology.	false
+471723b48777c69d84fabe3469da3340f704060a	Baraitser-Winter syndrome (BaWS) is characterized by iris @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+c1b233d65b0bb7d1de15bd2b5815976bfe37149d	@DISEASE$ (BaWS) is characterized by iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology.	false
+45d5e8308a08290b44600acabb7ba38f5e945421	The syndrome of iris coloboma, ptosis, hypertelorism, and @PHENOTYPICFEATURE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	has_symptom
+b61e8c5a8c8008b1f7fa2a0319487b01b69bcadf	The syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+db3eb227a9c34c56ece50e1b84b9e602d1668031	The syndrome of iris @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+1661d4492bc6ba86a77806624f7a06fe7364622a	The syndrome of iris @DISEASE$, ptosis, @PHENOTYPICFEATURE$, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+fc5d865b7613b343fe16e5092744533eff862d0c	The syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and @DISEASE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+290803bed56b57d72f70df611f3e470abd6b0b81	The syndrome of iris coloboma, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$ (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+f3a418c812824195391c30a2afc2c79719695c6a	The syndrome of iris coloboma, @PHENOTYPICFEATURE$, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the @DISEASE$, originally was described in a brother and sister and in an unrelated girl in 1988.	false
+3fd3a523bb948a586ea0e81106f1a293c31777e0	The most frequent ophthalmologic manifestations of mitochondrial disorders include @PHENOTYPICFEATURE$, progressive external ophthalmoplegia, @DISEASE$, retinopathy, and cataract.	has_symptom
+6f55efdf90488b7a07e8797dd982c3855b50528a	The most frequent ophthalmologic manifestations of mitochondrial disorders include ptosis, progressive external ophthalmoplegia, @DISEASE$, retinopathy, and @PHENOTYPICFEATURE$.	false
+8461502e20756feadce17328a49c60e62970a7b0	The most frequent ophthalmologic manifestations of mitochondrial disorders include @DISEASE$, progressive external ophthalmoplegia, optic atrophy, retinopathy, and @PHENOTYPICFEATURE$.	false
+154b0f5ac848a3515f02f60a00fe83ba6f479f8d	It was shown that m14487T>C can also cause the unusual combination of @DISEASE$, @PHENOTYPICFEATURE$, and encephalomyopathy leading to intractable seizures.	has_symptom
+157dac1cec56f18e7030010f8e5ab6d7575e7a83	It was shown that m14487T>C can also cause the unusual combination of optic atrophy, @DISEASE$, and encephalomyopathy leading to intractable @PHENOTYPICFEATURE$.	false
+1c84182c4ff1f512b7aa5919893ec08ba481162e	It was shown that m14487T>C can also cause the unusual combination of @DISEASE$, ptosis, and encephalomyopathy leading to intractable @PHENOTYPICFEATURE$.	false
+98ef5cc4d445cad9a4c26da6a7c704d3ddc67f71	We report a 70-year-old woman with bilateral @DISEASE$, external ophthalmoplegia, bilateral @PHENOTYPICFEATURE$, and sensory ataxic neuropathy.	has_symptom
+90af52654d5f6ae95d2e905ed5b8cc4a876ddc12	Ophthalmic manifestations include cataract, retinopathy, @DISEASE$, cortical visual loss, @PHENOTYPICFEATURE$ and ophthalmoplegia.	has_symptom
+84bb38bb81bfa7aa1f0fef3c31d4a30852cb2d3d	Ophthalmic manifestations include cataract, retinopathy, @DISEASE$, cortical @PHENOTYPICFEATURE$, ptosis and ophthalmoplegia.	false
+df925bc6b2dc1bb180569a372fa27c7d7c01d9d7	Ophthalmic manifestations include @PHENOTYPICFEATURE$, retinopathy, @DISEASE$, cortical visual loss, ptosis and ophthalmoplegia.	false
+2484af999378aee47f84dec12267d529843c2963	Ophthalmic manifestations include @PHENOTYPICFEATURE$, retinopathy, optic atrophy, cortical visual loss, @DISEASE$ and ophthalmoplegia.	false
+987d59caa348277208925b8d03d4a02bcc21fb20	Ophthalmic manifestations include cataract, retinopathy, optic atrophy, cortical @PHENOTYPICFEATURE$, @DISEASE$ and ophthalmoplegia.	false
+ceb005e205ea4c7d49f601ba3b91bab5c7fcc258	We report an 11-year-old girl with CCO deficiency, who presented with nystagmus, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ac94a22161d2e0696b970bbb6ccb5b69edbe47d2	This case report describes monozygotic male twins with @PHENOTYPICFEATURE$, @DISEASE$, and recent-onset intractable myoclonic epilepsy.	has_symptom
+0e2ded167e2cdc87dccc5ffea86bcc41b9e85e7e	This case report describes monozygotic male twins with @DISEASE$, optic atrophy, and recent-onset intractable @PHENOTYPICFEATURE$ epilepsy.	false
+00d58e183ab0780d659bb800490cc3431a2520cc	This case report describes monozygotic male twins with ptosis, @DISEASE$, and recent-onset intractable @PHENOTYPICFEATURE$ epilepsy.	false
+8f99e9c1c498fbf08f0910549824566d030b8e33	Diplopia, visual field defects, ophthalmoplegia, @PHENOTYPICFEATURE$, papilledema, and @DISEASE$ are ocular changes secondary to involvement of the central nervous system.	has_symptom
+fbcaa81aabe08d7e5f2a64e758eb57641b26b166	Among those patients with ophthalmic involvement the main problems were bilateral or unilateral proptosis, @PHENOTYPICFEATURE$, papilloedema, @DISEASE$, and seventh nerve palsy.	has_symptom
+0a3188ed6daaf91a12f09a83d3c10df9137ecb0d	Among those patients with ophthalmic involvement the main problems were bilateral or unilateral @PHENOTYPICFEATURE$, @DISEASE$, papilloedema, optic atrophy, and seventh nerve palsy.	false
+2ca93b4a9da5c5eac8deca398cc36c601a732908	Among those patients with ophthalmic involvement the main problems were bilateral or unilateral @PHENOTYPICFEATURE$, ptosis, papilloedema, @DISEASE$, and seventh nerve palsy.	false
+878a8ef24edda6393dd2d16fa676ef2d13083098	Dominant @DISEASE$, deafness, @PHENOTYPICFEATURE$, ophthalmoplegia, dystaxia, and myopathy.	has_symptom
+ffdb4b428156c22eeacb036f11b65c9255704ab2	Dominant optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$, ophthalmoplegia, dystaxia, and myopathy.	false
+9ea4a6ff9131d2f113a21d35aa9ad0aaf58ac8f5	Dominant @DISEASE$, @PHENOTYPICFEATURE$, ptosis, ophthalmoplegia, dystaxia, and myopathy.	false
+d585dc9c5b2c5decacd3a7f1c3f2b600d3adf4b1	Dominant optic atrophy, @PHENOTYPICFEATURE$, ptosis, ophthalmoplegia, dystaxia, and @DISEASE$.	false
+1c8df6f47bc69da62a8afffe49823e4f8e1540a5	This study describes a mutation in OPA1 causing a unique syndrome of @DISEASE$, sensorineural hearing loss, @PHENOTYPICFEATURE$, and ophthalmoplegia.	has_symptom
+437e16ae923636eb4d6bf0c3995353da793ea364	This study describes a mutation in OPA1 causing a unique syndrome of optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$, and ophthalmoplegia.	false
+82332625efd7f35f704ba240cc5a881abcc734eb	This study describes a mutation in OPA1 causing a unique syndrome of @DISEASE$, @PHENOTYPICFEATURE$, ptosis, and ophthalmoplegia.	false
+cca0cb28d4567ac82fac7877980827a51b652bfb	@DISEASE$, also known as Fahr's disease, is a rare neurological disease characterized by basal ganglia calcification, @PHENOTYPICFEATURE$ and psychiatric symptoms.	has_symptom
+494671dc3f2a107b6140a97d10968bd7879edb2c	Idiopathic basal ganglia calcification, also known as Fahr's disease, is a rare neurological disease characterized by @PHENOTYPICFEATURE$, @DISEASE$ and psychiatric symptoms.	false
+4c6b814b49681456e12d631a0fc2d9d53c72bc81	Idiopathic basal ganglia calcification, also known as Fahr's disease, is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, Parkinsonism and psychiatric symptoms.	false
+4b99d746eb27777857081031d5f1414672bdea40	@DISEASE$, also known as Fahr's disease, is a rare neurological disease characterized by @PHENOTYPICFEATURE$, Parkinsonism and psychiatric symptoms.	false
+b081af52593eb640ed8ee31351e6376f808f6673	@DISEASE$ remains an important cause of @PHENOTYPICFEATURE$ in these patients before decompressive craniectomy.	has_symptom
+40bfde2b11bd349ddfd38dab34245a5971d51394	Examination revealed bilateral fundus oculi albinoticus, mild iridic hypopigmentation, @DISEASE$, and @PHENOTYPICFEATURE$ tracking.	has_symptom
+a5242c3b5fa69f38a2c2c76969c0a851d4dd7b92	Examination revealed bilateral fundus oculi albinoticus, mild iridic @PHENOTYPICFEATURE$, @DISEASE$, and poor visual tracking.	false
+c749740c879957f890205f6f417d4163ca8be0ab	Examination revealed bilateral fundus oculi albinoticus, mild @DISEASE$ @PHENOTYPICFEATURE$, optic atrophy, and poor visual tracking.	false
+798f01a9cd79133cdb5bd763c4288ed15f77cb26	Examination revealed bilateral fundus oculi albinoticus, mild iridic @PHENOTYPICFEATURE$, optic atrophy, and @DISEASE$ tracking.	false
+720256ae2bfdd7a46a3edca20ca2ba6a9fc37f71	There was also a unilateral @PHENOTYPICFEATURE$ caused by traumatic @DISEASE$.	has_symptom
+1f5d7ef12bcdccf3b0c5349e4c22b02cc2bfc38c	Seventy-seven patients were normal, 20 had @PHENOTYPICFEATURE$ without funduscopic evidence of optic atrophy, and 13 had visual impairment with funduscopic evidence of @DISEASE$.	has_symptom
+e756d14d3f80b49d42c6a9c38d1066803fac2e68	Seventy-seven patients were normal, 20 had visual impairment without funduscopic evidence of optic atrophy, and 13 had @PHENOTYPICFEATURE$ with funduscopic evidence of @DISEASE$.	has_symptom
+5563f563515d69707201f98712ce3d7d49289715	Seventy-seven patients were normal, 20 had @PHENOTYPICFEATURE$ without funduscopic evidence of @DISEASE$, and 13 had visual impairment with funduscopic evidence of optic atrophy.	has_symptom
+46fb859b86ce77f7bc13c4a90db9267df2cffdd0	Seventy-seven patients were normal, 20 had visual impairment without funduscopic evidence of @DISEASE$, and 13 had @PHENOTYPICFEATURE$ with funduscopic evidence of optic atrophy.	has_symptom
+8b7bad8172ff86cdb74cd8cf1582f736e22b433a	@DISEASE$ caused @PHENOTYPICFEATURE$ in 5% of patients and corneal scarring in 8%.	has_symptom
+e8938580aa32b901cb5eaea6b44f2991d6d7c3c7	All 3 patients had a monophasic illness in childhood that caused bilateral @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+824b6101a167dd5b65246f7da3a92e099a24bd7f	@DISEASE$ was the main cause (54.1%) of permanent @PHENOTYPICFEATURE$.	has_symptom
+2431383f2239a3d1c641ce0c4059ff5e7b0eb7fc	Patients with preoperative @DISEASE$ had a @PHENOTYPICFEATURE$ prognosis than did patients with normal fundi.	has_symptom
+ca7a73133d80465ead35cfedf5fc6fee931fa121	@DISEASE$ remains an important cause of @PHENOTYPICFEATURE$.	has_symptom
+5e40bbebd524391c8a5fe123dafd1b3b7a2633c1	Amblyopia and @DISEASE$ are two very different causes of unilateral long-standing @PHENOTYPICFEATURE$.	has_symptom
+76bcfe1f62c858252cf158fad74e2cc53deda8cc	@PHENOTYPICFEATURE$ and @DISEASE$ are two very different causes of unilateral long-standing visual impairment.	false
+ed1ba3131e07096f72889ef0e2e66895fac63ea3	@PHENOTYPICFEATURE$ and optic atrophy are two very different causes of unilateral long-standing @DISEASE$.	false
+c07b80a80a04c8b9a7060e28bcb79d35ae507e5f	Specifically, this review will focus on cystic fibrosis, Huntington's disease, sensory neural @PHENOTYPICFEATURE$ due to Connexin gene mutations, @DISEASE$, and the Beckwith-Wiedemann syndrome as there is evidence that complex inheritance is responsible for at least part of the phenotypic variability that is not explainable by the genotype alone.	has_symptom
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+f5e8e7fa267fe160faa186910876ad648774bb1b	@DISEASE$ is a heterogeneous disorder causing a spectrum of symptoms, including visual impairment, kidney disease, and @PHENOTYPICFEATURE$.	has_symptom
+dcfcf9f5c3d13279eccb6c6ccea130a1015567d6	Bardet-Biedl syndrome is a heterogeneous disorder causing a spectrum of symptoms, including @PHENOTYPICFEATURE$, kidney disease, and @DISEASE$.	false
+3d8f1a6a422ec4e5c4392a6605bacac9901fe514	@DISEASE$ is a heterogeneous disorder causing a spectrum of symptoms, including @PHENOTYPICFEATURE$, kidney disease, and hearing impairment.	false
+a29eca213f904f5d810e4c268a2981a988f3333e	Bardet-Biedl syndrome is a heterogeneous disorder causing a spectrum of symptoms, including @PHENOTYPICFEATURE$, @DISEASE$, and hearing impairment.	false
+298715452c9bc6fd16e7e027354da9e05fc0d3f6	Retinal degeneration combined with obesity, diabetes mellitus and neurogenous @PHENOTYPICFEATURE$: a specific syndrome (not hitherto described) distinct from the @DISEASE$: a clinical, endocrinological and genetic examination based on a large pedigree.	has_symptom
+5ec466703140f726ccc085b3c1d7a0c458a2df6c	Retinal degeneration combined with @PHENOTYPICFEATURE$, @DISEASE$ and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.	false
+f35e7b7c19fbaeb472de413f57900d55426b4615	Retinal degeneration combined with @PHENOTYPICFEATURE$, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the @DISEASE$: a clinical, endocrinological and genetic examination based on a large pedigree.	false
+ce69542aad96bf239b4b8bc525a0e43814ba7b6d	Retinal degeneration combined with @PHENOTYPICFEATURE$, diabetes mellitus and neurogenous @DISEASE$: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.	false
+57f6a12d5127862093e35a999dfad6d36d20395a	@DISEASE$ combined with @PHENOTYPICFEATURE$, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.	false
+f11f5b81e758783a0f0fd770c529cc6395ef18bd	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, @DISEASE$, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	has_symptom
+6f7bcc2407585169c0c89b003a67a14bc1d78523	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m @DISEASE$.	false
+7b2a36f1ef6c04032ec79578955742eaa359d605	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive @DISEASE$ characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+e551d0394f3d980ce85af1471003d1fd1d267eeb	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m @DISEASE$.	false
+ded3d40fc681ed35bc51740aa515911bdfb231e8	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m @DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+290dabcac9e607769084f7aa12559233b153b331	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and @DISEASE$, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+1835893f4753a2ad2ce93ed229c820ef1b123746	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive @DISEASE$ characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+045578af0ca6694cb008bd45accecac4a16357bd	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset @DISEASE$, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+9a0bbf9ac447d75813f6a269d559789e52a0fccf	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset @DISEASE$, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+4e38c044d2bae28058949b12fed364bba53f8a4a	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m @DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+9671ee757523f46d7d08f09e1e5308b962671b6d	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, @DISEASE$, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+71e9287cd4b13cf4007b4ed8e040d0511f1e611c	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, @DISEASE$ and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+c01c67af5c92bccaf0f0d6f221efacc1f3a347f8	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and @DISEASE$, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+fa688eadca67715e0cca3af9486fe37771431c0c	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m @DISEASE$, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+5ff3a1d3a95cad9a670ca5c9a61dd9d303269867	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+367ac47ad2892985984df6561ba6a9937f3ea09a	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of @DISEASE$.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+76e988125ea0df856325e1e2332c96cd148b89a1	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human @DISEASE$, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+de19cc728036b1b03d1222ff7607e3b5192f70a4	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, @DISEASE$ and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+0e0eb3e6a7dde0649f6dfcf119ba34e6b3f3af65	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of @DISEASE$.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+4000d1e9433fbd00462d82dc59ca61636ba50d31	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, @DISEASE$, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+81fc8e26be430402810726eeeede6967b28897ae	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, @DISEASE$, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+703545b211e58f0abc15ec07aef359a9d7d0f09b	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @DISEASE$/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+b265bcf03a8cbcfa394d03bc926d6ad54c00d667	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, @DISEASE$, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+fbc068e432b168cdb1c3453f48e1b050973ff8da	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m @DISEASE$, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+5b061d8263306039778d85f639e35f89f0bb0b3d	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human @DISEASE$, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+5192809c5aaab138985c44016acff4ca8c7979c0	Furthermore, mutations in genes encoding proteins expressed both in photoreceptors and other cilia result in systemic diseases, such as Usher syndrome, Bardet-Biedl syndrome (@DISEASE$), and Senior-Loken syndrome that involve retinal degeneration along with other disorders consequent to cilia dysfunction such as @PHENOTYPICFEATURE$ and polycystic kidney disease.	has_symptom
+322f8fc8d6e0dacd097d777a52a297597f96142a	Furthermore, mutations in genes encoding proteins expressed both in photoreceptors and other cilia result in systemic diseases, such as Usher syndrome, @DISEASE$ (BBS), and Senior-Loken syndrome that involve retinal degeneration along with other disorders consequent to cilia dysfunction such as @PHENOTYPICFEATURE$ and polycystic kidney disease.	has_symptom
+005da471da144fb094908c1cd8158a3f0a95019d	In retrospect, this child has a number of features that can be explained by the SALL1 deletion, although it is not clear if the @PHENOTYPICFEATURE$ is a rare feature of @DISEASE$ or caused by other mechanisms.	has_symptom
+ed56adb77a8ea196ee30f4276bfaf45d97461249	Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+e02e41d495c8ca87482f29ed17f9c028dc85619f	We present seven patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d0fdba668980e2bf4e58f9d5338d3a453c1b97b5	He was evaluated for @PHENOTYPICFEATURE$ and eventually diagnosed with type-IV @DISEASE$ (MPS) or Morquio syndrome.	has_symptom
+ec269094a5caf89e565463226d1174d1654f2f1c	@DISEASE$ IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked @PHENOTYPICFEATURE$ and become physically handicapped.	has_symptom
+38904b63f972cf1d669fdf0601c92feff35b23bb	@DISEASE$ IVA (MPS IVA) is a degenerative systemic @PHENOTYPICFEATURE$, in which children exhibit marked short stature and become physically handicapped.	false
+f391c9040a2f78598189c1ba26512abb667a5a58	Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic @PHENOTYPICFEATURE$, in which children exhibit marked @DISEASE$ and become physically handicapped.	false
+1c2522134217e6981f7b01706b7dea21be022f18	Patients with Hunter syndrome (@DISEASE$ II) present with skeletal dysplasia including @PHENOTYPICFEATURE$ as well as CNS and visceral organ involvement.	has_symptom
+128653a452fffd3a0eb1ed036756d01f46e370fd	Patients with @DISEASE$ (mucopolysaccharidosis II) present with @PHENOTYPICFEATURE$ including short stature as well as CNS and visceral organ involvement.	false
+36bb6b30ebcf956af2b8c87c330e20ce8c54f5a8	Patients with Hunter syndrome (@DISEASE$ II) present with @PHENOTYPICFEATURE$ including short stature as well as CNS and visceral organ involvement.	false
+eb919de2ce128cdbdeb4cb552dc5886db186fd50	Patients with Hunter syndrome (mucopolysaccharidosis II) present with @PHENOTYPICFEATURE$ including @DISEASE$ as well as CNS and visceral organ involvement.	false
+c22cf358b194f0c3ac54e1dfc2edc90dfcc86c1d	The skeletal phenotype of @DISEASE$ VI (MPS VI) is characterized by @PHENOTYPICFEATURE$ and growth failure.	has_symptom
+4ab0868c0b08797e96349dd82b5a8427b8b9240f	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: @PHENOTYPICFEATURE$, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	has_symptom
+a5d9155b888e8c01a5cd072978f43fe527ab28cd	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: @DISEASE$, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and @PHENOTYPICFEATURE$.	false
+b73e79033180455f63a02f73803c6369c5918c18	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, @PHENOTYPICFEATURE$, developmental arrest, and ataxia.	false
+4f1274f74301f558db77a7b829cafa3888ab7db8	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and @PHENOTYPICFEATURE$.	false
+f1c13d2ea201de6caa45ea3ac2eb7acb50509a98	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, @PHENOTYPICFEATURE$, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+d0a5c41abd56e6cb66fa3ecab6c90322876e1ecd	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild @PHENOTYPICFEATURE$, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+5df007e2c16633d9fb320f0e37abb2c4ec27686e	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: @DISEASE$, microcephaly, and mild @PHENOTYPICFEATURE$, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+400a4e47bcc44a0bb3091b33670a20fa7c8c41ad	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: @DISEASE$, microcephaly, and mild facial dysmorphism, along with dysphagia, @PHENOTYPICFEATURE$, developmental arrest, and ataxia.	false
+c2d044366297ba6e0b836592bbf1b0b97b20bcdd	We present a 9-year-old girl with a phenotype similar to a mucopolysaccharidosis: @DISEASE$, @PHENOTYPICFEATURE$, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+4fd43d5cf1ff32d392be977daede84c8206aafa9	@PHENOTYPICFEATURE$ is characteristic of patients with @DISEASE$ (MPS) diseases.	has_symptom
+b4709add07a615cd0d733e9808c37b48b9c6c6da	The second case was a 6-year-old girl with umbilical hernia, @PHENOTYPICFEATURE$, normal biochemistry and radiological findings of @DISEASE$.	has_symptom
+714da660781cda1803c77129e37c4e379df13714	(6) Non-cleft lip-related @PHENOTYPICFEATURE$, holoprosencephaly, and the @DISEASE$ are clinical models that demonstrate the effects of anatomic disturbances within the A fields.	has_symptom
+d68b80bf7b8af47626f324236224736cd4a2278f	Although @DISEASE$ (KS) caused by heterozygous loss of function mutations of the fibroblast growth factor receptor 1 gene (FGFR1) is occasionally associated with characteristic features, such as dental agenesis and @PHENOTYPICFEATURE$, FGFR1 mutations remain unidentified in several KS patients with such characteristic features.	has_symptom
+e1ba47f0a61c733511e82273f4113d682b833287	In 1944 Kallmann et al described sex-linked inheritance of @DISEASE$ and noted the co-occurrence cleft lip, @PHENOTYPICFEATURE$ and cranio-facial asymmetry.	has_symptom
+2df9c6a489af0f8672827164690811c3a8c9edf3	We report here three paediatric cases of @DISEASE$ with unusual phenotype in two unrelated patients with severe ear anomalies (hypoplasia or agenesis of external ear) associated with classical features, such as @PHENOTYPICFEATURE$, dental agenesis, syndactylia, micropenis and cryptorchidism.	has_symptom
+1846de861ed8521fd0ec1747fc5c1cd6421a2251	We report here three paediatric cases of Kallmann syndrome with unusual phenotype in two unrelated patients with severe @PHENOTYPICFEATURE$ (hypoplasia or agenesis of external ear) associated with classical features, such as cleft palate, dental agenesis, syndactylia, micropenis and @DISEASE$.	false
+c3337c103543031cb9a000f1e5d5ed0d33a26da2	We report here three paediatric cases of Kallmann syndrome with unusual phenotype in two unrelated patients with severe @PHENOTYPICFEATURE$ (hypoplasia or agenesis of external ear) associated with classical features, such as @DISEASE$, dental agenesis, syndactylia, micropenis and cryptorchidism.	false
+74a1cf9ec35d29af7fe92240f9dcbc1e0c7eacea	We report here three paediatric cases of @DISEASE$ with unusual phenotype in two unrelated patients with severe @PHENOTYPICFEATURE$ (hypoplasia or agenesis of external ear) associated with classical features, such as cleft palate, dental agenesis, syndactylia, micropenis and cryptorchidism.	false
+6b7225c63aeb172b3808bd4acb5b9fa73b65ece2	Manual and oral stereognosis in children with @PHENOTYPICFEATURE$, gonadal dysgenesis, pseudohypoparathyroidism, oral facial digital syndrome and @DISEASE$.	has_symptom
+44cfbca6f3c6ca8d6bc3cc0f6e9f4c26485a2819	Manual and oral stereognosis in children with cleft palate, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, @DISEASE$ and Kallman's syndrome.	false
+e665d2b0d7cde0370c982c2c470dcd3918f9dc59	Manual and oral stereognosis in children with @DISEASE$, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, oral facial digital syndrome and Kallman's syndrome.	false
+f0961dbd8032842961d98aaf906cd064c636c7c8	Manual and oral stereognosis in children with cleft palate, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, oral facial digital syndrome and @DISEASE$.	false
+8c7a2b8b9b0f0f3c97ccd9b1a0bc3e33aa0b71df	@PHENOTYPICFEATURE$, microcephaly, characteristic face, syndactyly and mental retardation: the @DISEASE$.	has_symptom
+1d3a98d643758ff4f2dc66e006fa899950ec9de8	@DISEASE$, microcephaly, characteristic face, @PHENOTYPICFEATURE$ and mental retardation: the Filippi syndrome.	false
+ed2c9c30faaa2e51173a68da10db0caa02e3d437	Short stature, @PHENOTYPICFEATURE$, characteristic face, syndactyly and mental retardation: the @DISEASE$.	false
+5613daa01c06569369bf7c10899aae1484780f6c	@DISEASE$, @PHENOTYPICFEATURE$, characteristic face, syndactyly and mental retardation: the Filippi syndrome.	false
+b062bfd62671fd60c399f4ddc8d2e4ba5b9dd580	Short stature, microcephaly, characteristic face, syndactyly and @PHENOTYPICFEATURE$: the @DISEASE$.	false
+9ccb6b795db15c23c2642e03c18900eb77cdc334	@DISEASE$, microcephaly, characteristic face, syndactyly and @PHENOTYPICFEATURE$: the Filippi syndrome.	false
+fa543ddf7fd29bf79b351ce74d7b4144a4dba24c	Short stature, microcephaly, characteristic face, @PHENOTYPICFEATURE$ and mental retardation: the @DISEASE$.	false
+6d7bd3b536eb3035c413939dd939fb43b00976bc	Antenatal ultrasound study at 29 weeks of gestation showed a @PHENOTYPICFEATURE$, very short limbs, and a small chest; the findings were more severe than in achondroplasia or @DISEASE$ alone.	has_symptom
+6f34444d6397104f477dd0666ee6cf4d071b8b8c	Antenatal ultrasound study at 29 weeks of gestation showed a @DISEASE$, very @PHENOTYPICFEATURE$, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone.	false
+b3f3a4f3eb8962b20278fd88fabf5f5f02143f66	Antenatal ultrasound study at 29 weeks of gestation showed a large head, very @PHENOTYPICFEATURE$, and a small chest; the findings were more severe than in achondroplasia or @DISEASE$ alone.	false
+07b6559ab687ccd37f31f2e2d45e448ac3654fe4	Z-scores of HC for age, and HC to height ratio were calculated for 13 children with @DISEASE$, and 90 with achondroplasia, both conditions associated with @PHENOTYPICFEATURE$.	has_symptom
+92bf8456b370f25af054ae1e5c8b03c61e42bffa	@DISEASE$ is a genetic skeletal dysplasia characterized by disproportionate short stature, stocky appearance and several clinical and radiological features very similar, but much milder, than those of classical achondroplasia, including shortened and stubby long bones, decreased lumbo-sacral interpediculate distances, posterior scalloping of the lumbar vertebrae, metaphyseal flaring, and moderate @PHENOTYPICFEATURE$.	has_symptom
+b036637808d2ba5528050a2a689c274b576957cc	Hypochondroplasia is a genetic @PHENOTYPICFEATURE$ characterized by disproportionate short stature, stocky appearance and several clinical and radiological features very similar, but much milder, than those of classical achondroplasia, including shortened and stubby long bones, decreased lumbo-sacral interpediculate distances, posterior scalloping of the lumbar vertebrae, metaphyseal flaring, and moderate @DISEASE$.	false
+f3fcec3eb29cc85001da9d524d83fb6b7de8a14e	Hypochondroplasia is a genetic skeletal dysplasia characterized by @PHENOTYPICFEATURE$, stocky appearance and several clinical and radiological features very similar, but much milder, than those of classical achondroplasia, including shortened and stubby long bones, decreased lumbo-sacral interpediculate distances, posterior scalloping of the lumbar vertebrae, metaphyseal flaring, and moderate @DISEASE$.	false
+ace015b77a3730d60df93d5145155b0e7260f51d	@DISEASE$ is a genetic @PHENOTYPICFEATURE$ characterized by disproportionate short stature, stocky appearance and several clinical and radiological features very similar, but much milder, than those of classical achondroplasia, including shortened and stubby long bones, decreased lumbo-sacral interpediculate distances, posterior scalloping of the lumbar vertebrae, metaphyseal flaring, and moderate macrocephaly.	false
+8403c158f01668b42b1bb67bd15f0c4f11a0d887	@DISEASE$ is a genetic skeletal dysplasia characterized by @PHENOTYPICFEATURE$, stocky appearance and several clinical and radiological features very similar, but much milder, than those of classical achondroplasia, including shortened and stubby long bones, decreased lumbo-sacral interpediculate distances, posterior scalloping of the lumbar vertebrae, metaphyseal flaring, and moderate macrocephaly.	false
+173f10b1c139f0c284dba43d6efbcf00987e19b9	She was subsequently diagnosed with @DISEASE$ at the age of 6 years when disproportional short stature, stocky habitus and @PHENOTYPICFEATURE$ were observed.	has_symptom
+177833e82cc7d139d158ae9956f86d910a139da8	She was subsequently diagnosed with @DISEASE$ at the age of 6 years when @PHENOTYPICFEATURE$, stocky habitus and macrocephaly were observed.	false
+dd835a20fcdd40ea138252e4f34cb5d34bb51ce7	She was subsequently diagnosed with hypochondroplasia at the age of 6 years when @PHENOTYPICFEATURE$, stocky habitus and @DISEASE$ were observed.	false
+021f140dd8c2852b4fa6a6f1790198af72b90d93	@DISEASE$ (HCH) is a skeletal dysplasia, characterized by short stature and @PHENOTYPICFEATURE$.	has_symptom
+7af4dcc84955c2acaf6ea9336baa4667179e0594	@DISEASE$ (HCH) is a skeletal dysplasia, characterized by @PHENOTYPICFEATURE$ and macrocephaly.	false
+a04857673cfdefc6da73cbc4cc2632725948be3d	Hypochondroplasia (HCH) is a @PHENOTYPICFEATURE$, characterized by short stature and @DISEASE$.	false
+8fc0b68ad0d74b30b98caed4c345b4d5373bb3bb	Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+777b7a9ad961a968744a358296b9cf8bf8f37915	@DISEASE$ (HCH) is a @PHENOTYPICFEATURE$, characterized by short stature and macrocephaly.	false
+70c7a6374abab720fa1ce3a72ba460de131e25c0	A short history of a rapidly enlarging neck mass often associated with dyspnea, @PHENOTYPICFEATURE$, or voice change is the hallmark presentation of @DISEASE$.	has_symptom
+bd1d2152868f2bd506b7cd2b1067dd904b91ee26	In humans, loss or alteration of the CHL1/CALL gene may contribute to @PHENOTYPICFEATURE$ associated with the @DISEASE$, caused by distal deletions of the short (p) arm of chromosome 3, and schizophrenia.	has_symptom
+230c49b9d393e0d3d9ee5b56ec9b6a836970a34f	In humans, CHL1 (also referred to as CALL) is a candidate gene for @DISEASE$-associated @PHENOTYPICFEATURE$.	has_symptom
+3510aac8ec4ad90602aa688e863446083632af0e	@PHENOTYPICFEATURE$, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the @DISEASE$.	has_symptom
+4bdbba1933a66eea58f959206c3b31252c3b0aff	Mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities, and coarse face with full lips: confirmation of the @DISEASE$.	false
+18ef0c4c0d4fcbea023b3be7574f91ce66735359	@DISEASE$, deafness, @PHENOTYPICFEATURE$, and coarse face with full lips: confirmation of the Fountain syndrome.	false
+41e0d4f21cb1e9ec68d59172fa09cb3bf214030b	@DISEASE$, @PHENOTYPICFEATURE$, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome.	false
+766aa01e34b1a1e5a8c9ee728bc303cdee49ea34	Mental retardation, deafness, @PHENOTYPICFEATURE$, and coarse face with full lips: confirmation of the @DISEASE$.	false
+0758cd8a4b9f378cee016adbd8a73fd60f70acd3	@PHENOTYPICFEATURE$ and various abnormalities and dysmorphisms of the ears and face, reported in @DISEASE$, do not really seem to be part of it.	has_symptom
+29548b10f333a06113e56886b8fe0d29eb3540ce	At least three other relatives not examined personally are reported to have related CVMs (@PHENOTYPICFEATURE$, @DISEASE$).	has_symptom
+6b7f192a5ebdd557a39ba27ae322daa210f22573	A restrictive atrial septal defect was found most commonly in fetuses with critical @PHENOTYPICFEATURE$ or the @DISEASE$, and was less frequently seen in the setting of mitral atresia or coarctation.	has_symptom
+bb717d2a68c6ad2b8e0268e4a28e9d5578d7919f	LS-CHD includes @PHENOTYPICFEATURE$, a bicuspid aortic valve, coarctation of the aorta, and @DISEASE$.	has_symptom
+9769e8d69b3a6ee22051abedb43ecfc7b3e6a3b5	All 9 patients exhibited left-side heart anomalies, including @DISEASE$ in 3, coarctation of the aorta in 4, @PHENOTYPICFEATURE$ in 1, and mitral valve stenosis in 1.	has_symptom
+15161c1691270245c7eacccbf41ef0203a6fb794	We utilized this tool in pachyonychia congenita (PC) patients, who typically present with @PHENOTYPICFEATURE$ and often severely debilitating pain, compared to patients with @DISEASE$ (EPPK) and mal de Meleda (MDM).	has_symptom
+43d1155dec9a30b331473f4368191a812649842d	Risk factors and management of deep venous thrombosis in children following post-surgical @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f9512c2e464c34c81e5cd9bb8a03367ca7c905e5	Recent studies have suggested that a deficiency of oxytocin may be evident in patients with @PHENOTYPICFEATURE$ and @DISEASE$, and that this may be associated with deficits in cognitive empathy.	has_symptom
+4cd125bffcb5afcd9b0a8ad9226a563cbff9dcc4	Elevated plasma TSH in the presence of hypothyroidism as seen in 6 of our patients with idiopathic @PHENOTYPICFEATURE$ or @DISEASE$, indicates an intact feedback action between the pituitary and the thyroid gland.	has_symptom
+7a199cc96bf4d6b575675772b116148316e292dc	This review considers the data linking oxytocin to the neuropsychological and metabolic disturbances evident in patients with @DISEASE$ and @PHENOTYPICFEATURE$, and describes the challenges that need to be overcome before replacement therapy can be considered as a therapeutic option in clinical practice.	has_symptom
+04db68932bcd9352cdf083c55911580df14657be	@PHENOTYPICFEATURE$, cataracts, and @DISEASE$ are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2).	has_symptom
+0e73d12a35650049e032038a7273a656021bdcc5	@DISEASE$, @PHENOTYPICFEATURE$, and proximal renal tubular acidosis are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2).	false
+d419d1f3cddb6e76e618a7b1e1cf2ee322497d56	Glaucoma, @PHENOTYPICFEATURE$, and @DISEASE$ are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2).	false
+374650ebd5d173e26e6dc25c6cf0fc5ab0b6db29	Mutations in the electrogenic Na+/nHCO3- cotransporter (NBCe1, SLC4A4) cause severe @DISEASE$, @PHENOTYPICFEATURE$, and cataracts in humans, indicating NBCe1 has a critical role in acid-base homeostasis and ocular fluid transport.	has_symptom
+99bcd718fe57288fbace1ed398a171221f3e5764	Mutations in the electrogenic Na+/nHCO3- cotransporter (NBCe1, SLC4A4) cause severe @DISEASE$, glaucoma, and @PHENOTYPICFEATURE$ in humans, indicating NBCe1 has a critical role in acid-base homeostasis and ocular fluid transport.	false
+40ee8f1b2269b27c78aa36124cac9464d4a0a41b	Mutations in the electrogenic Na+/nHCO3- cotransporter (NBCe1, SLC4A4) cause severe proximal renal tubular acidosis, @DISEASE$, and @PHENOTYPICFEATURE$ in humans, indicating NBCe1 has a critical role in acid-base homeostasis and ocular fluid transport.	false
+8fcb83fa4dea991c496feee7b7abbc5b697e4f28	Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	has_symptom
+cc50d81a8492cc6011ea93308b2f72201d964d4b	While MNGIE presents with gastrointestinal dysmotility, cachexia, and leukoencephalopathy, pyrimidinuria and @DISEASE$ may show symptoms of epilepsy, autism, @PHENOTYPICFEATURE$, and dysmorphic features.	has_symptom
+f88d873c5ae24bbfb35f71cb7e6dfe9eed3e6d62	While MNGIE presents with gastrointestinal dysmotility, cachexia, and leukoencephalopathy, pyrimidinuria and dihydropyrimidinuria may show symptoms of epilepsy, @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic features.	false
+f665ac1f325296994dbd31fd428380f5f4747448	While MNGIE presents with gastrointestinal dysmotility, cachexia, and leukoencephalopathy, pyrimidinuria and @DISEASE$ may show symptoms of epilepsy, @PHENOTYPICFEATURE$, mental retardation, and dysmorphic features.	false
+8e4ad4e19ad5916be0fa81136e93b5d8d1933212	The eye abnormalities include microphthalmos, @PHENOTYPICFEATURE$, @DISEASE$ and iris hypoplasia.	has_symptom
+5e6a283d0123115443c18a5e6f2ff43688f73166	The eye abnormalities include @PHENOTYPICFEATURE$, cataracts, @DISEASE$ and iris hypoplasia.	false
+e742e094ca63844ae2d43d9509ca8cade9aac7f3	The eye abnormalities include @PHENOTYPICFEATURE$, @DISEASE$, optic atrophy and iris hypoplasia.	false
+65892ace9112a44336e7c349940913b1f816fefa	The patient also had @PHENOTYPICFEATURE$ and unilateral @DISEASE$.	has_symptom
+7189bcd811692455c445b4d22ce4640f421ed5be	Eye lesions include corneal flecks, @PHENOTYPICFEATURE$, uveitis or @DISEASE$ with retrolental fribroplasia.	has_symptom
+35b9184a57f8b4747c973581c7c8d9eae9f64841	The most common complications are @PHENOTYPICFEATURE$, maculopathy, and @DISEASE$.	has_symptom
+1edd2bdf060ccb947daf154c49ba523c5fb4361d	Macular edema, papilledema, and @DISEASE$ after @PHENOTYPICFEATURE$ extraction.	has_symptom
+fdfe2c35005949fcf39e4e0e712e6d5762a9403f	The boy had unilateral @PHENOTYPICFEATURE$ and bilateral @DISEASE$.	has_symptom
+616ee2bcc067027fe7358801d160c92dd577243e	Ophthalmic manifestations include corneal opacification, @PHENOTYPICFEATURE$, glaucoma, pigmentary retinopathy and @DISEASE$.	has_symptom
+8e206584440d719d08c2856cdd273b6031750616	The most common ocular findings are @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+b1a70314eb4457305bbcd519d81b5b4c250e5ccf	Other manifestations are vitreous degeneration, @DISEASE$, equatorial pigmentation, and complicated @PHENOTYPICFEATURE$.	has_symptom
+af96dda49263420c83537c3bdd1e24e6b9107fbe	@DISEASE$ with severe loss of vision was detected in the girl and bilateral @PHENOTYPICFEATURE$ in her brother.	has_symptom
+af4d54e3fdcedf47955e79e26c61e65c8cd227e6	@DISEASE$ (YF) is a life-threatening mosquito-borne flaviviral hemorrhagic fever (VHF) characterized by severe hepatitis, @PHENOTYPICFEATURE$, hemorrhage, and rapid terminal events with shock and multi-organ failure.	has_symptom
+97404c97b563a176afd3fcd494b8e33664a402ce	@PHENOTYPICFEATURE$ also develops in up to 40% of patients with @DISEASE$.	has_symptom
+ef1ae2681d97f94f55fc4b6f948fd604f68505bf	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. @DISEASE$ is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, hearing impairment and @PHENOTYPICFEATURE$.	has_symptom
+6a65d7a7e446f2ff572652c95fabf4365f81fc5e	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. @DISEASE$ is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, @PHENOTYPICFEATURE$ and intellectual disability.	false
+36790d59553f9813e420d9dbd628bbf335b1a7d5	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture @DISEASE$, @PHENOTYPICFEATURE$ and intellectual disability.	false
+58c212acd5155f17a910912ca1b67554aeff19dd	Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. Muenke syndrome is an autosomal dominant disorder characterized mainly by coronal suture craniosynostosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3bd1089fc059540dd8e9cd9a3eb705371fef97b6	@DISEASE$ is an autosomal-dominant craniosynostosis syndrome characterized by unilateral or bilateral coronal craniosynostosis, hearing loss, @PHENOTYPICFEATURE$, and relatively subtle limb findings such as carpal bone fusion and tarsal bone fusion.	has_symptom
+74586f49c33286c8972a55a4ca5ea33f9318caea	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including @PHENOTYPICFEATURE$.	has_symptom
+629a990b25cc0502c32932c78819add0a321a305	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (@PHENOTYPICFEATURE$), and ear anomalies, including @DISEASE$.	false
+3842225c6b190d0e2b575d4bda4b985625d9dea6	@DISEASE$ is characterized by colobomas, @PHENOTYPICFEATURE$, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss.	false
+433f37e39ee5b36982d02ffa3e3343700b5993bd	CHIME syndrome is characterized by colobomas, @PHENOTYPICFEATURE$, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including @DISEASE$.	false
+9285af263abee355ec48cdbe169d997fc03ed2a9	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, @PHENOTYPICFEATURE$ (intellectual disability), and ear anomalies, including @DISEASE$.	false
+c6cb35611d35a01c873e33cb483bc7d0eb77c0de	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and @PHENOTYPICFEATURE$, including @DISEASE$.	false
+9dbb0c3e6c9d3387aa8c93bdda9e7e6166e665f8	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and @PHENOTYPICFEATURE$, including conductive hearing loss.	false
+2506c35e40553b52b44188624f42c4770f701b1f	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, @PHENOTYPICFEATURE$ (intellectual disability), and ear anomalies, including conductive hearing loss.	false
+bd35cba16298050c14ad49c2da23f17f7b906492	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (@PHENOTYPICFEATURE$), and ear anomalies, including conductive hearing loss.	false
+c5560bab68f3b3abfa4b903ea672409c994000f3	@DISEASE$, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, @PHENOTYPICFEATURE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	has_symptom
+8dc377373885210a3579d3ebb5f66f5500e38588	Meckel-Gruber syndrome, characterized by occipital encephalocele, @PHENOTYPICFEATURE$, polydactyly, cleft lip or @DISEASE$, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+863fc7ea34ff7beb094eb2fbe4be681eb8892782	@DISEASE$, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+599968fe6d607c719a491bb7522d0d6849cd8f0e	Meckel-Gruber syndrome, characterized by occipital encephalocele, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$ or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+f02050bad49cb351555336981443ae0455f91275	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+cc9d7b240a26ab9db95439c8b01f887ba835844e	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, cleft lip or palate, @DISEASE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+6edc86116825f47d88b039ac735fad135bdbc86d	Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, @PHENOTYPICFEATURE$, cleft lip or @DISEASE$, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+f2b3a00d7a2bc86ba826937cd1ae0ce736328e5d	Meckel-Gruber syndrome, characterized by occipital encephalocele, @PHENOTYPICFEATURE$, polydactyly, cleft lip or palate, @DISEASE$, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+049c5857079f1ecb6327df58348d41943a2d5b3a	@DISEASE$, characterized by occipital encephalocele, @PHENOTYPICFEATURE$, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway.	false
+e81d33c5a9d65c17b83d92c6a5695efe5d8294f4	We report a fetus affected by @DISEASE$ whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked @PHENOTYPICFEATURE$, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus.	has_symptom
+3d71a91739b61ac1032d8a8de1a9054fd6b80b31	We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked @DISEASE$, a distended abdomen, omphalocele, post-axial polydactyly and @PHENOTYPICFEATURE$.	false
+f9daf29259d8816a7d0ca12d91b0ea79295e1dba	We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked @DISEASE$, a distended abdomen, omphalocele, post-axial @PHENOTYPICFEATURE$ and talipes equinovarus.	false
+c5d788749fc5281c68b91079538c4cd4c7d303aa	We report a fetus affected by @DISEASE$ whose phenotype was characterized by @PHENOTYPICFEATURE$, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus.	false
+492e2538568430bdc76277de6f478a0a27ca66b5	We report a fetus affected by @DISEASE$ whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial @PHENOTYPICFEATURE$ and talipes equinovarus.	false
+a8e8c5c138ec769e204e25826080852c4c06020e	We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by @PHENOTYPICFEATURE$, frontal bossing, a saddle nose, marked @DISEASE$, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus.	false
+4b08b05dba1541cbc54039840256533393660b7b	We report a fetus affected by @DISEASE$ whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and @PHENOTYPICFEATURE$.	false
+238f547a872a97c8afda98ce14f17655488ff656	@DISEASE$ (Darier-White disease), with an unusual @PHENOTYPICFEATURE$.	has_symptom
+f40098b2646a54a474c15f3674b8dba5873eee03	Keratosis follicularis (@DISEASE$), with an unusual @PHENOTYPICFEATURE$.	has_symptom
+2eb8b6935a3896d48d02959730d4cb2fe6caa9c8	The presence of radioulnar synostosis and @PHENOTYPICFEATURE$ of the radial 2 digits in RLD should prompt the hand surgeon to obtain a cardiac evaluation and consider genetic testing for @DISEASE$.	has_symptom
+bda044b73b185d647468b60759f016f2d15940aa	Aural atresia and severe @DISEASE$ are associated malformations that result in problems with hearing and cosmesis, associated @PHENOTYPICFEATURE$ and diminished self-esteem.	has_symptom
+58dead5e20d2db47fd23ad2e178a9af1dc7cb541	A case of @DISEASE$ and chorioretinal coloboma associated with @PHENOTYPICFEATURE$ in a female with contiguous Xp11.3-11.4	has_symptom
+e2c084a4c09aa1532fe85ccdea0e90d6ed5117d4	@DISEASE$ (FEVR) is a rare finding in patients with genetic forms of @PHENOTYPICFEATURE$.	has_symptom
+d756867a8b587466e001545911c4052b09a08458	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, @PHENOTYPICFEATURE$, and mental retardation (CDMMR).	has_symptom
+c874afe93180319c0f9cbb9ef9824fa58554837c	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause @PHENOTYPICFEATURE$, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR).	has_symptom
+11d23c9b2a58c3c8c99bfcd7610b6153d20a8086	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause @DISEASE$, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+86ddc9c971eef21ad613bbebde5ec9e56a5a9d94	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+6e87fc34f044787e72912b9025510c148f7ee7a0	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+a1cde2814c743e45cfb0af96d66dd2428b2aba5f	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$ (CDMMR).	false
+fb949cb4b1d5b9758343d0fea4dcef02c37b51c5	A retrospective review of the CURE Children's Hospital of Uganda clinical database between 2004 and 2010 identified 45 patients with DWC confirmed by CT scanning (25 with DWM, 17 with DWV, and 3 with @DISEASE$) who were treated for @PHENOTYPICFEATURE$ by ETV/CPC.	has_symptom
+959228a8da295e5f96c2b19396558a1cf0abdccc	The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the @DISEASE$), and the more recently described megalencephaly-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies.	has_symptom
+61ee908bd3447c50423b3ddb1e20494bba4130d8	The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the @DISEASE$ (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies.	has_symptom
+75ed03b086d98a43afa846d3fbbc85a235d3f66e	The @DISEASE$ (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies.	has_symptom
+5251a15e137455b7b7621983b0f68a52bfee5939	@DISEASE$ is an autosomal recessive, heterogeneous syndrome with classical features, including @PHENOTYPICFEATURE$, microcephaly, developmental delay, neuropathy, and photosensitivity.	has_symptom
+75918f7355ca22645ece99628b2e30688f235b0e	Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, neuropathy, and photosensitivity.	false
+a9353d54603e92b508b7d55e6460c1f997071d23	@DISEASE$ is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, @PHENOTYPICFEATURE$, developmental delay, neuropathy, and photosensitivity.	false
+f408fe2d3bb6cc803bf730b0783e6e79dd9c9fbf	Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, and photosensitivity.	false
+8c27a29de5c3baaf871904e3f042b1dc2f3a49e7	@DISEASE$, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, @PHENOTYPICFEATURE$, and cachectic habitus.	has_symptom
+dc30545102033183b79459f37ee98b1d1dae335f	Cockayne syndrome, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @PHENOTYPICFEATURE$, senile face, @DISEASE$, and cachectic habitus.	false
+b07afe2e2aa59b78323e5dbdf6be9bae7c659649	Cockayne syndrome, one of the progeroid syndromes, was suspected because of @PHENOTYPICFEATURE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, @DISEASE$, and cachectic habitus.	false
+f0ee1936c945643c5a33f0ff0d80304c251e97f9	@DISEASE$, one of the progeroid syndromes, was suspected because of mental retardation, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, @PHENOTYPICFEATURE$, senile face, short stature, and cachectic habitus.	false
+71862e77fd419bde5f3c5dd750cb0bb230d80140	@DISEASE$, one of the progeroid syndromes, was suspected because of @PHENOTYPICFEATURE$, renal disfunction, photosensitivity, and the characteristic physical appearance such as low set ears, microcephaly, senile face, short stature, and cachectic habitus.	false
+49361ca19176832bc41f20c429e686de38d101cc	@DISEASE$ is a rare inherited disorder with photosensitivity, dysmorphism, @PHENOTYPICFEATURE$ and neurological deficits.	has_symptom
+c6c3d1f75db15827cdeb39f061db2a00c4378c00	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, @PHENOTYPICFEATURE$, and hypogonadism.	has_symptom
+0d89368fe0b7f576246f38d4701e371b7bf2a47f	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and hypogonadism.	false
+f056a728c9e4c8ea289c6f3b89b15d87ca3c91de	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+b325bbf9d24868f3974ca68082d7b75385a3d67c	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and @DISEASE$.	false
+8a6fabaff074d43adea3f3793be79e53ba359679	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+0be38d6a042b729cc92e98b0a0ef0bb19d62eef4	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+fff0973c8e275c2ce92d145ed162a094878ec7fb	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+1d9ca7fa2b5c376af8fb2fc3a868d45b9ff842a2	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, @DISEASE$, and hypogonadism.	false
+44485a3cebf08b70a3c0c52dfb40f33b22e37bb4	Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early @DISEASE$ typical of XP and some features typical of CS, such as mental retardation, @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+fda3aeb602bb537109a00afef6afb70f1d9012c6	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+7cc392ed98816a1652fd7807f8c65b245dbdce86	Xeroderma pigmentosum-@DISEASE$ (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+87cb7e072724f0c5a01b18e8401131b4bf99b293	@DISEASE$ is an inherited connective tissue nevus, which presents with asymptomatic symmetrically distributed @PHENOTYPICFEATURE$ on the trunk or upper limbs.	has_symptom
+452c82f85fa59e0e65262ea3d20f9b6428c935e6	In a six-year-old girl with @DISEASE$ the ophthalmological findings were as follows: bushy brows, @PHENOTYPICFEATURE$, epicanthus, an antimongoloid slant to the eyelids and hyperopia with an alternating convergent squint.	has_symptom
+42754adedd360422e283d26f3a7d1e58182d8b8f	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and @PHENOTYPICFEATURE$.	has_symptom
+c32d86d93245edaf1b605fea84d779e72d4623e6	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and hypertelorism.	false
+b55a42acac0827f234d4347d9a2ad0afc80810d1	Rubinstein-Taybi syndrome is a rare @DISEASE$ characterized by broad thumbs and first toes, short stature, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and hypertelorism.	false
+7a3d494725f9f2876cccd4d3c3834c8f4f28eee5	@DISEASE$ is a rare multisystem disorder characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, microcephaly, delayed milestones, beak nose, and hypertelorism.	false
+036869c6aa1589f0cf77779660737105e5c7cc9e	Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, @PHENOTYPICFEATURE$, delayed milestones, beak nose, and @DISEASE$.	false
+bafb7c5c1e3a159ab84a47a2383852bc317ee349	Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, microcephaly, delayed milestones, beak nose, and @DISEASE$.	false
+752da4b73a878e4221ab91106863ee483a18995c	Rubinstein-Taybi syndrome is a rare @DISEASE$ characterized by broad thumbs and first toes, @PHENOTYPICFEATURE$, microcephaly, delayed milestones, beak nose, and hypertelorism.	false
+cf632060d1619668567f8bb7cfb69ff231e27072	We performed STRA6 molecular analysis in three fetuses and one child diagnosed with @DISEASE$ and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and @PHENOTYPICFEATURE$.	has_symptom
+b29019379c102dab01d0ad4d63b19bb4657675b8	The newly recognized metabolic disorder of @DISEASE$ syndrome (Glut-1 DS) may start with myoclonic seizures at an age of less than 1 year and imitate benign @PHENOTYPICFEATURE$ epilepsy in infancy early in the clinical course.	has_symptom
+d2ae8ee0f95f9a4d0f981b1a7b54804a2809156b	Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and @PHENOTYPICFEATURE$: an unusual presentation of @DISEASE$.	has_symptom
+c075a14f8e7b3b0faadabd5ff186c06efda7b097	Oculocerebrocutaneous or @DISEASE$ is a rare congenital syndrome characterized by @PHENOTYPICFEATURE$/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages.	has_symptom
+53735b6c284951bbbfb0864a1c6a67d6906b324f	The oculocerebrocutaneous (@DISEASE$) syndrome is characterized by the presence of orbital cysts and @PHENOTYPICFEATURE$/anophthalmia, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	has_symptom
+b2128031bf2a5108a3d6a58d6e9ebc5919b00331	The oculocerebrocutaneous (@DISEASE$) syndrome is characterized by the presence of orbital cysts and microphthalmia/@PHENOTYPICFEATURE$, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	false
+1a3b7701aba9d6e329c4e967412d74b2add09e8d	The oculocerebrocutaneous (OCC) syndrome is characterized by the presence of orbital cysts and @DISEASE$/@PHENOTYPICFEATURE$, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	false
+3a2fd0713821b146bd77f255a83a8aa5dc536bcb	The oculocerebrocutaneous (OCC) @DISEASE$ is characterized by the presence of orbital cysts and microphthalmia/@PHENOTYPICFEATURE$, focal hypo- and aplastic skin defects, skin appendages and cerebral malformations.	false
+cc14819432aa32e14583c3996d1cd84854165671	@DISEASE$ (OCCS) is characterised by orbital cysts and anophthalmia or @PHENOTYPICFEATURE$, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations.	has_symptom
+668a94041cd641d881b67685e4fb9ac9bedee7e9	@DISEASE$ (OCCS) is characterised by orbital cysts and @PHENOTYPICFEATURE$ or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations.	false
+3a6a0268a23e80862ea5d142b00d0e306610f736	Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and @PHENOTYPICFEATURE$ or @DISEASE$, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations.	false
+fa0f88444d0eaf7bc3a7090bb4ba7b8363caa15c	@DISEASE$ is an unusual entity, characterized by ocular cysts or @PHENOTYPICFEATURE$, focal dermal anomalies and cerebral malformations.	has_symptom
+074625d6e43d1de9d97d5a18fe437d7fa35adb11	Delleman syndrome (@DISEASE$, MIM 164180) is characterized by orbital cysts, @PHENOTYPICFEATURE$/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations.	has_symptom
+452f75e5e29386bd02dc154c8c405aa66bae8d3a	@DISEASE$ (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, @PHENOTYPICFEATURE$/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations.	has_symptom
+43c0405cbd58a210e4a2df7a2c8b94f8c7020853	@DISEASE$ (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/@PHENOTYPICFEATURE$, focal skin defects, skin appendages and multiple cerebral malformations.	false
+7d2d51cd609985350f4f328b6f9f2adfccbf6627	Delleman syndrome (@DISEASE$, MIM 164180) is characterized by orbital cysts, microphthalmia/@PHENOTYPICFEATURE$, focal skin defects, skin appendages and multiple cerebral malformations.	false
+77e99e0e565b932a6791eb6cad18fa4e5e66d2f9	Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, @DISEASE$/@PHENOTYPICFEATURE$, focal skin defects, skin appendages and multiple cerebral malformations.	false
+01726649e4a7bfdd8606a67e74431474c996a7a4	We suggest that the minimal diagnostic criteria for @DISEASE$ include central nervous system cyst or hydrocephalus, orbital cysts or @PHENOTYPICFEATURE$, and focal skin defects.	has_symptom
+437aa7f203eee342b99a40184ea1898c05784515	We suggest that the minimal diagnostic criteria for @DISEASE$ include central nervous system cyst or @PHENOTYPICFEATURE$, orbital cysts or microphthalmia, and focal skin defects.	false
+1f6ebab5856f22fe064b84bfb7e93fa6ba76ef66	We suggest that the minimal diagnostic criteria for Delleman syndrome include @PHENOTYPICFEATURE$ or hydrocephalus, orbital cysts or @DISEASE$, and focal skin defects.	false
+847d93897d61995f39bfc53326142060dd31ffba	We suggest that the minimal diagnostic criteria for @DISEASE$ include @PHENOTYPICFEATURE$ or hydrocephalus, orbital cysts or microphthalmia, and focal skin defects.	false
+b2e0927cde92d5af07d42c3819655f4c1017def3	We suggest that the minimal diagnostic criteria for Delleman syndrome include central nervous system cyst or @PHENOTYPICFEATURE$, orbital cysts or @DISEASE$, and focal skin defects.	false
+748d376482a63789636b938dc35c6e75b8d940a4	@DISEASE$ consists essentially of orbital cysts and @PHENOTYPICFEATURE$/anophthalmia, focal dermal defects, skin appendages and malformations of the central nervous system.	has_symptom
+611e4c2f456d137bb0c8eccf5ce7b0b8c0f38b4b	Oculocerebrocutaneous syndrome consists essentially of orbital cysts and @DISEASE$/@PHENOTYPICFEATURE$, focal dermal defects, skin appendages and malformations of the central nervous system.	false
+c6174bcc59fda05029ee65923e607621ce2b5084	@DISEASE$ consists essentially of orbital cysts and microphthalmia/@PHENOTYPICFEATURE$, focal dermal defects, skin appendages and malformations of the central nervous system.	false
+b2ed1b18bfa6c9e2defac3e00cadf5cce8b856c3	@DISEASE$ (PNH) is the most common type of epileptogenic @PHENOTYPICFEATURE$, and often presents with epilepsy and reading disability.	has_symptom
+2b9e1bbf6f5eee98d0c05d8eec84a05fd2dc096b	A knockin mouse model of the @DISEASE$ M390R mutation has cilia defects, ventriculomegaly, retinopathy, and @PHENOTYPICFEATURE$.	has_symptom
+99a8f8ae9358bea96fc6e975f43a4874b46a5a20	@DISEASE$ genotype and @PHENOTYPICFEATURE$ in the Newfoundland population.	has_symptom
+aa3932973d165974209850a7707b30686a360b83	TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents @PHENOTYPICFEATURE$ in @DISEASE$ mice.	has_symptom
+d7acee8a7d70f0284bd837e97e255c92801c643b	A 73-year-old man who was an asymptomatic carrier of DM1 (66 CTG repeats) started developing @PHENOTYPICFEATURE$ with multiple falls, visual blurring, double vision, and word finding difficulty at age 62 and was initially diagnosed with @DISEASE$ (MSA).	has_symptom
+d89befa868fc98e21750c3acef2d42b1b6aa5669	Patients with @DISEASE$ (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and @PHENOTYPICFEATURE$, attention deficit disorder, and seizures.	has_symptom
+a9793530fb31d1b018793c0d91e8e4b42bf20a70	Patients with fragile X syndrome (@DISEASE$) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and @PHENOTYPICFEATURE$, attention deficit disorder, and seizures.	has_symptom
+751610c2e9510212a2029e9f20ffecae63a61cb0	Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and @DISEASE$, attention deficit disorder, and @PHENOTYPICFEATURE$.	false
+3c8319eeb210994abea9ee838b5c07e226426fed	Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and hyperactive behavior, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8c97753b5ba8f4c5e3389b00c9f921942c945b81	Patients with fragile X syndrome (@DISEASE$) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and hyperactive behavior, attention deficit disorder, and @PHENOTYPICFEATURE$.	false
+0d6cea3126876831af64c3d4269ec5e20600f228	Patients with @DISEASE$ (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and hyperactive behavior, attention deficit disorder, and @PHENOTYPICFEATURE$.	false
+4661e8a08d7ee3c870af94de32bdd425188f1279	Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit hyperexcitability, including @DISEASE$ and hyperactive behavior, attention deficit disorder, and @PHENOTYPICFEATURE$.	false
+0b3a2d0c72402984a1e44b5f78d6ad105eed8f92	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with @DISEASE$, and one with hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome.	has_symptom
+723bc69a5dfc3eb2dad0c9b8ec8cfbff9c644322	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis @DISEASE$ (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+d70962a0a495f953c651df5dd3c097fe41eceeb1	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with @DISEASE$, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+9ebb047051caa1999e15aa7fa233d64528ba8951	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) @DISEASE$, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+1bb43274f7b2aa96b70258a44e18175678a965a9	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy @DISEASE$ ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+961d4d859bc0d8e0844b3f1e852f9880984e3437	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-@DISEASE$-renal dysplasia syndrome.	false
+30878305659300f0e5ae974ed4146a3f4e65eef0	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic @DISEASE$ including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+f6e824c563bf076916636427bc277590b8b1636c	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with @DISEASE$ hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+49a7c795a15424f8e1e544cb8c50b27f0b5fe0c9	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia @DISEASE$.	false
+544a12a31ec3d381a2f9c2598d301dd65a5464e8	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with autoimmune polyendocrinopathy candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-@DISEASE$ syndrome.	false
+242ad98262a221990659bc1b9ec19d8a3ade98bf	The study was a 2.5-year self-controlled trial on six pediatric patients (four males, two females, age 9.8?5.1 years) with syndromic hypoparathyroidism including three with @DISEASE$ candidiasis ectodermal dysplasia (APECED) syndrome, two with DiGeorge syndrome, and one with @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome.	false
+aa4546db40511dd00f3bc077febfe3c4529f65be	Combined with clinical data, 26 (15.0%) cases of @DISEASE$ (OMIM #188400), nine (5.2%) autoimmune polyglandular syndrome type 1 (OMIM #240300), eight (4.6%) autosomal dominant hypocalcemia type 1 (OMIM #601198), four (2.3%) hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (OMIM #146255), and one (0.6%) Kenny-Caffey syndrome type 2 (OMIM #127000) were verified.	has_symptom
+579c904fa56a51187ccbec13734425240531813f	An HDR (hypoparathyroidism, @PHENOTYPICFEATURE$, renal dysplasia) syndrome locus maps distal to the @DISEASE$ region on 10p13/14.	has_symptom
+e8cd2633fe6874bcd99f777f932cd4b0e389e0e1	@PHENOTYPICFEATURE$, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (@DISEASE$) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	has_symptom
+54a5af209719c27675d3e66623b79ab370997409	@DISEASE$, retardation, adducted thumbs, spastic paraparesis, and @PHENOTYPICFEATURE$ (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	false
+073aed1bc73c0c1e903753ad1d134c9f6ae29716	Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and @PHENOTYPICFEATURE$ (@DISEASE$) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene.	false
+7bd5ffc232107f78a8b0a31e43d71522b2b021b0	Mutations in the L1 gene are associated with four related neurological disorders, X-linked hydrocephalus, spastic paraplegia (SPG1), @DISEASE$, and X-linked @PHENOTYPICFEATURE$.	has_symptom
+7c36558ef2c8d055b0178231ba40d4c4cabc49db	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include @PHENOTYPICFEATURE$, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or @DISEASE$).	has_symptom
+a9f02575f06ca2b2cb58d6e308a1df02fb57f578	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include @DISEASE$, hydrocephalus, spastic paraplegia, adducted thumbs and @PHENOTYPICFEATURE$ (L1-spectrum disease, CRASH or MASA syndrome).	false
+4899d8b98fe71e8a56963283fcca98556c77a88a	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and @PHENOTYPICFEATURE$ (L1-spectrum disease, CRASH or @DISEASE$).	false
+6a4134923436f0693a196b11542828bbfcb95ca5	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include @DISEASE$, @PHENOTYPICFEATURE$, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome).	false
+6c77d697f1b3812b487db59693ee64629981a055	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, @PHENOTYPICFEATURE$, spastic @DISEASE$, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome).	false
+de285fdaa1813eae7100caf5ed43525462e082a6	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic @DISEASE$, adducted thumbs and @PHENOTYPICFEATURE$ (L1-spectrum disease, CRASH or MASA syndrome).	false
+13bf9c990bd34929e36da1c7b3052e725bd842a8	Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, @PHENOTYPICFEATURE$, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or @DISEASE$).	false
+41b70272c6a90c581cf245c1aba94e58a5f83444	@DISEASE$: confirmatory report of a syndrome with sparse hair, mental retardation, and @PHENOTYPICFEATURE$ and metacarpals.	has_symptom
+939255be69dcbd33ba430afc2590f641ef1e4dd9	@DISEASE$: confirmatory report of a syndrome with sparse hair, @PHENOTYPICFEATURE$, and short stature and metacarpals.	false
+7913b1da0998b45e11889bab66155fb590d05147	Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, @PHENOTYPICFEATURE$, and @DISEASE$ and metacarpals.	false
+ad525b60144e56de125de4a6629355b7872e5808	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, @PHENOTYPICFEATURE$, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	has_symptom
+d45f7bd360bcb54988a54517287208db7c8be91e	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+802fd63aa509d085530c31f82ca76b4c8c49c59f	@DISEASE$ is a rare clinical condition characterized by @PHENOTYPICFEATURE$ with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+62803d55ed4b9e141ef1f22ff994511fe10a53d1	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, @PHENOTYPICFEATURE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+3b0be635a49f7844fdaf8e45086d408b310f2f78	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, @DISEASE$, microcephaly, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+14eab737de77ee93e6ddfe692be6981cf7b8b630	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by @PHENOTYPICFEATURE$ with impairment of expressive language, @DISEASE$, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+de689d777f0ee3da69363b8b0dc4c23644bdb8b7	Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, @DISEASE$, @PHENOTYPICFEATURE$, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.	false
+f98df2bc8a26c7007bdd8b3ce634aa36a837624b	The genetic contribution to @PHENOTYPICFEATURE$ is relatively minor in most multifactorial cases, but more direct and profound in the case of @DISEASE$.	has_symptom
+2e420107c6ddd091ad7f0dc22547bd8f1895795c	The prevalence and clinical characteristics of @DISEASE$ (FDCM) among patients with end stage @PHENOTYPICFEATURE$ (ESHF) has yet to be elucidated.	has_symptom
+f82f0476fdf1ab6f5521046196666e5ea6e0f361	We examined whether the inhibition of apoptosis signal-regulating kinase 1 (ASK1) would attenuate the progression of @PHENOTYPICFEATURE$ in TO-2 hamsters with @DISEASE$.	has_symptom
+32ce847678702706518c1dae2f3b63f74a742070	Survival of patients with @DISEASE$ on optimal @PHENOTYPICFEATURE$ therapy.	has_symptom
+1e1837e2129de50fb8cadfc1531d539ce881082c	Phenotypically, patients with @DISEASE$ (FDC) show enlargement of all four chambers of the heart and develop symptoms of @PHENOTYPICFEATURE$.	has_symptom
+d0a3103a97993f3a39ee68c95471dfc303b2f009	Clinical manifestations indicating a @DISEASE$ infection may differ widely and include aborts and fertility disorders and/or frequently occurring inflammations (pneumonia, mastitis, metritis) and/or unspecific symptoms presenting as higher susceptibility to disease, weakness, and @PHENOTYPICFEATURE$ attacks.	has_symptom
+87237e18d3f1e641bb5af3640939e48830f1f036	We propose that these mammals may play a role in maintaining natural foci of @DISEASE$, Tahyna @PHENOTYPICFEATURE$ and Calovo virus infection.	has_symptom
+3aafc648196cb1a23f8f9664b016facbaebc00ca	We conducted a retrospective case-control study to evaluate differences in clinical signs, symptoms, and outcomes for 82 patients with acute Q fever and 52 control patients who had pneumonia, fever and lower respiratory tract symptoms, or @PHENOTYPICFEATURE$ and hepatitis, but had negative serologic results for @DISEASE$.	has_symptom
+cd6614cfb634f8bf3e7b587d936a63d9715aaeae	We conducted a retrospective case-control study to evaluate differences in clinical signs, symptoms, and outcomes for 82 patients with acute Q fever and 52 control patients who had pneumonia, @PHENOTYPICFEATURE$ and lower respiratory tract symptoms, or fever and hepatitis, but had negative serologic results for @DISEASE$.	has_symptom
+08521e6a96b731f69e3466484df16f9044746e16	Hypophosphatemia, @PHENOTYPICFEATURE$ and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ pneumonia.	has_symptom
+6fedaf04c5bada5eacbdf50725556aaebc6fd8f2	@PHENOTYPICFEATURE$, @DISEASE$ and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute Q fever pneumonia.	false
+3fd1659f22fcb40ba6dec994b480934dbb13c4fb	Hypophosphatemia, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ @PHENOTYPICFEATURE$.	false
+e10255843aac84101497ded571fbd4415d3dcf1c	Hypophosphatemia, @DISEASE$ and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute Q fever @PHENOTYPICFEATURE$.	false
+5c239b484cd248289d6ffc500d589842c1c0b625	@PHENOTYPICFEATURE$, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ pneumonia.	false
+8ca4447bfdb978a8d2e1559406491d8fb3104136	Effect of growth hormone therapy on @PHENOTYPICFEATURE$ and skeletal deformities in a patient with combined Turner syndrome and @DISEASE$.	has_symptom
+8f231fb2425edfd997f8b41a3861689655d9bfc3	The rare @DISEASE$ (LD; OMIM 249700), characterized by @PHENOTYPICFEATURE$ with hypoplasia/aplasia of the ulna and fibula, has been postulated to be the homozygous form of LWD (refs 4-6).	has_symptom
+c99f85ca4b1490c0f7f63028c2e288b919ced592	Pseudoerythrocytosis in @DISEASE$ with associated @PHENOTYPICFEATURE$.	has_symptom
+75f8ce6517fac537a336bf3a95c3ea8f3f2bc546	Therapy-related @PHENOTYPICFEATURE$ in @DISEASE$ patients.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0581738895c5c001103e704fae5960292382d3b6	The spectrum of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f6057736adc7d36cc0625c6074a7dd50396aacbd	@PHENOTYPICFEATURE$ in IgD @DISEASE$.	has_symptom
+9979e3675c71b7fbfe79f4dc134d91a8f06f041a	@PHENOTYPICFEATURE$ and light chain @DISEASE$: case report.	has_symptom
+692679572f9a12a59881b4be103735a60b6d55bf	Managing treatment-related @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+a24ccd93b74b6256775b78f4dd99f649fa4d362d	@DISEASE$: treatment- related @PHENOTYPICFEATURE$.	has_symptom
+0581738895c5c001103e704fae5960292382d3b6	The spectrum of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3468758463e0de119c8a5600854c27137bfee7e1	[Thalidomide induced @PHENOTYPICFEATURE$ in @DISEASE$ patients].	has_symptom
+b2c7a340e6f824abbf81f17b39d07abb7b197dab	@DISEASE$ results from +der(22)t(11q23;22q11). @PHENOTYPICFEATURE$, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	has_symptom
+fe1985d2d0dbdde2b8b75cf69c2198e6f9de06ff	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and @PHENOTYPICFEATURE$ are the main features of the syndrome.	false
+f068aa369d39e17a0ea7215e2519b2e3a748d18e	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, @PHENOTYPICFEATURE$, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+21dea5b538d564f4d3f2021eb7f70ea28b02b6cb	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, @PHENOTYPICFEATURE$, hypotonia, and mental retardation are the main features of the syndrome.	false
+b3010f0922447affe478356b70b8c9431edd2bd4	Emanuel syndrome results from +der(22)t(11q23;22q11). @DISEASE$, ear anomalies, heart defects, @PHENOTYPICFEATURE$, hypotonia, and mental retardation are the main features of the syndrome.	false
+58c81046fee35f211dcc910038ebbccf339cb0a8	Emanuel syndrome results from +der(22)t(11q23;22q11). @DISEASE$, @PHENOTYPICFEATURE$, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+ebed28fddc4b754b6d3e89a944626176b0c22705	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, @PHENOTYPICFEATURE$, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+10e48995af04aed30a80fbc596b054e001f0747e	Emanuel syndrome results from +der(22)t(11q23;22q11). @DISEASE$, ear anomalies, heart defects, genital anomalies, hypotonia, and @PHENOTYPICFEATURE$ are the main features of the syndrome.	false
+fd8fad66fb0621a5559fa85bffc40652f3e759a9	Emanuel syndrome results from +der(22)t(11q23;22q11). @DISEASE$, ear anomalies, @PHENOTYPICFEATURE$, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+265ae71a1f82c2d5927cce52f2970438dd3371d4	Several other neurological signs and symptoms can be associated with @DISEASE$ such as cerebellar abnormalities, cerebral edema and @PHENOTYPICFEATURE$ after minor head trauma, epileptic seizures and mental retardation.	has_symptom
+054d1e641522e8d20a36aebe1ceaac1c0ee0c003	Several other neurological signs and symptoms can be associated with @DISEASE$ such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and @PHENOTYPICFEATURE$.	false
+5d249d41b010c82bb6ec1bcd8e9dc7ecd6e924ae	Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+1a59957ffd709f7962fa60bd50fefd6f121512b9	Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and @DISEASE$ after minor head trauma, epileptic seizures and @PHENOTYPICFEATURE$.	false
+9ea6f5fa396014be13dfab39dac40d33d3403bcd	Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and @DISEASE$ after minor head trauma, @PHENOTYPICFEATURE$ and mental retardation.	false
+1c20f0c2f8ab761995373575d8b307f6ae29e491	Several other neurological signs and symptoms can be associated with FHM such as @PHENOTYPICFEATURE$, cerebral edema and coma after minor head @DISEASE$, epileptic seizures and mental retardation.	false
+befa0fa278b91b29957073ba3af6dd5ba6c06c63	Several other neurological signs and symptoms can be associated with @DISEASE$ such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, @PHENOTYPICFEATURE$ and mental retardation.	false
+d73face5d69420d88733a9a9465a3464cb744ebd	Several other neurological signs and symptoms can be associated with FHM such as @PHENOTYPICFEATURE$, cerebral edema and @DISEASE$ after minor head trauma, epileptic seizures and mental retardation.	false
+f2c2fc3da3ba21a66a0de417bdfcea4b0754869a	Several other neurological signs and symptoms can be associated with @DISEASE$ such as @PHENOTYPICFEATURE$, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation.	false
+11655d481c3f280996c64e5a65aadbaac6d2688d	Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head @DISEASE$, epileptic seizures and @PHENOTYPICFEATURE$.	false
+3cab808ac36cdcd6f092ee21a8ccf0e6df2da312	@DISEASE$ (KdVS) is a multi-system disorder characterized by @PHENOTYPICFEATURE$, friendly behavior, and congenital malformations.	has_symptom
+2bbdde92cbca19c0787d1bd3ffa1f7615c07267b	The @DISEASE$ is a genetic disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and a typical behavioral phenotype.	has_symptom
+c62411ff975510a9c2c80f446f2deb76df788edd	KANSL1 haploinsufficiency causes @DISEASE$ (KdVS), characterized by dysmorphic features and @PHENOTYPICFEATURE$; amiable personality, congenital malformations and seizures also commonly occur.	has_symptom
+55ea612d0f99e2906cf5057a767c7a4fa4435f78	KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and @DISEASE$; amiable personality, congenital malformations and @PHENOTYPICFEATURE$ also commonly occur.	false
+77f6b0fedfcbe942bbcebc409b640001ea971ee9	KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, @DISEASE$ and @PHENOTYPICFEATURE$ also commonly occur.	false
+d9437be051da2eb8110e8ba6f74327026b2aa5a4	KANSL1 haploinsufficiency causes @DISEASE$ (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and @PHENOTYPICFEATURE$ also commonly occur.	false
+9684c16e0efae64e4357e37ea07e5b7cb5e6319e	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, epilepsy, facial dysmorphism and friendly behavior.	has_symptom
+03a0a8cfef08ebafb920c875411cee941a0d8d29	The 17q21.31 microdeletion syndrome is characterized by @DISEASE$, epilepsy, @PHENOTYPICFEATURE$ and friendly behavior.	false
+21a41a893a8a138e8716d9926ac435bd5c87df8e	The @DISEASE$ is characterized by intellectual disability, epilepsy, @PHENOTYPICFEATURE$ and friendly behavior.	false
+46d3ba99fee3fab8eb82f19f69b6c6d5e33f2f22	This study was designed to describe the spectrum of epilepsy phenotypes in @DISEASE$ (KdVS), a genetic syndrome involving dysmorphic features, @PHENOTYPICFEATURE$, hypotonia, and congenital malformations, that occurs secondary to 17q21.31	has_symptom
+b17fc6a01fe03dfa2724fa3bbe00e8aaa2a2aa9f	The @DISEASE$ is characterised by @PHENOTYPICFEATURE$, epilepsy, distinctive facial dysmorphism, and congenital anomalies.	has_symptom
+cbe18dda4f7ee2276eb194eebe6e4bc778a904b1	The 17q21.31 microdeletion syndrome is characterised by @DISEASE$, epilepsy, distinctive @PHENOTYPICFEATURE$, and congenital anomalies.	false
+adf2d7fe7edbb56461c7845e5615b527c1df43dc	The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive @PHENOTYPICFEATURE$, and @DISEASE$.	false
+679ad178f27c24292c777aafa25667d32bd664dd	The @DISEASE$ is characterised by intellectual disability, epilepsy, distinctive @PHENOTYPICFEATURE$, and congenital anomalies.	false
+82fac5a9b59192903d414616001d3d5cfaf46d16	It was suggested that abnormal ECM might contribute to proliferation of epithelia, accumulation of @DISEASE$ and @PHENOTYPICFEATURE$ formation, thereby causing development of NP.	has_symptom
+1717fc18e8e58de7cecc9cefc4d63426de32ac3f	(1) Comparing with the control group, the model group was showed that the expression level of IL-4 mRNA in the peripheral blood cells (PBMC) was increased, while hyperemia, @PHENOTYPICFEATURE$ and eosinocyte (@DISEASE$) invasion of lung tissue was more serious (P < 0.01).	has_symptom
+054cff0a5ba89a5b771135fa68830ecda93d3055	Abnormal ECM may contribute to proliferation of epithelium, accumulation of @DISEASE$ and @PHENOTYPICFEATURE$ formation, as a result, to enhance the development of nasal polyps.	has_symptom
+7acb6b55cb2a9fd38fc47cb0878dbf8a79cf3c3f	Treatment with @DISEASE$ resulted in dose-dependent inhibition of paw @PHENOTYPICFEATURE$ in acute and chronic models of inflammation.	has_symptom
+561c2f683f0f579b6ba8104bf568d50e82008ad7	In the observation group, the total effective rate was 94.84%, which was higher than that in the control group (78.72%); the effective rate on alleviating main symptoms (sneezing, nasal obstruction), signs (nasal mucosa @PHENOTYPICFEATURE$, pallor) and the @DISEASE$ count were significantly lowered, all were better than those in the control group (P <0.05).	has_symptom
+9d130345e79f9f81865c8799e4d2c3fd41133922	@DISEASE$ (EoE) is assessed endoscopically (endoscopic activity), based on grades of @PHENOTYPICFEATURE$, rings, exudates, furrows, and strictures (EREFS).	has_symptom
+9aec81fc7edc19d28b6a74f000f0f9025e6265ab	Harmless @PHENOTYPICFEATURE$ or @DISEASE$?].	has_symptom
+ca4ddfdc7df4580efd0458836952a90c98cce277	In all groups, participants with @PHENOTYPICFEATURE$ were tested for @DISEASE$.	has_symptom
+705c694d36a85a5c8c18573b1cdbf9709d2d3b77	When the differential diagnosis of @PHENOTYPICFEATURE$ is malaria, malaria, @DISEASE$...	has_symptom
+cd8bb1dd7e2fa3ddf8292f3d3aa380ba538bcc85	When the differential diagnosis of @PHENOTYPICFEATURE$ is malaria, @DISEASE$, malaria...	has_symptom
+1caf88119954421649e565b4dd2f89f3307dd5a6	When the differential diagnosis of @PHENOTYPICFEATURE$ is @DISEASE$, malaria, malaria...	has_symptom
+4d11685effb1c99231e0b85431f1f0de79dbeacc	Children with @PHENOTYPICFEATURE$ were tested for @DISEASE$ parasites.	has_symptom
+76a62210bf0cd417fb1489ceca13c3e0a07ef8cb	Malaria morbidity, causes of non-@DISEASE$ @PHENOTYPICFEATURE$, prescription patterns treatment patterns and referral cases were evaluated	has_symptom
+691d7a61c6caa367b36afc6f6de3fb723bb232a1	@DISEASE$ morbidity, causes of non-malaria @PHENOTYPICFEATURE$, prescription patterns treatment patterns and referral cases were evaluated	has_symptom
+9873fbca55ccae31d9f0173ffb5ddfe10827be11	@DISEASE$ is characterized by @PHENOTYPICFEATURE$.	has_symptom
+fc48472c417c6a16ec3b1b85ffdb13d9774b8e2a	The differential diagnosis includes @DISEASE$, typhoid @PHENOTYPICFEATURE$, leptospirosis, and arboviroses.	has_symptom
+165f73f5cb3d9b5b73d5fc0e8c6781f23e9df031	@DISEASE$ @PHENOTYPICFEATURE$ is a common medical presentation and diagnosis in Malawi.	has_symptom
+80cb2da51da32fcb470f8763bf5ade381b751e0a	[Causes of @PHENOTYPICFEATURE$ attacks in @DISEASE$].	has_symptom
+2c2205acc05a127f1a1bc3f4385da8b84146b3bf	@DISEASE$ alone (31.3%) was the first cause of @PHENOTYPICFEATURE$; 33.5% of fever cases were of unknown origin.	has_symptom
+ad30a45bae4499b110ed127f5da1ed26a388d460	@DISEASE$ alone (31.3%) was the first cause of fever; 33.5% of @PHENOTYPICFEATURE$ cases were of unknown origin.	has_symptom
+4377e9d5067cee3c5fc433af13709f3ae2f59f84	In all three patients, a @PHENOTYPICFEATURE$ episode preceded the signs and symptoms of @DISEASE$.	has_symptom
+619d5c88122358b27f8a96e9c6b770b5786a9148	The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and @PHENOTYPICFEATURE$ epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], @DISEASE$ [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10)  biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations.	has_symptom
+67f30cf1b2bb482059c4f048574df6bdd2f0db30	This article reports the case of an 8-year-old female with @DISEASE$ and the oral/dental implications of this syndrome, namely @PHENOTYPICFEATURE$ with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate.	has_symptom
+6ac388315029872d262c54e1cfb7fe8bcf2cfcb4	Benign hereditary @DISEASE$ (BHC; OMIM 118700) is an autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+7c4013ee5dbb0591e3aed271bf8946fe4a160596	@DISEASE$ and dystonia are the most common HD-associated @PHENOTYPICFEATURE$, and they can be assessed on research rating scales.	has_symptom
+9706e5e8ed19a4fe7a38899f9bb36ca967f1aaad	Benign hereditary @DISEASE$ (BHC) (MIM 118700) is an autosomal dominant @PHENOTYPICFEATURE$.	has_symptom
+a39e3b1dfe232fe9a8c83a53ebf9786025159143	Other symptoms include @PHENOTYPICFEATURE$ like @DISEASE$ or abnormal orofacial movements, oculomotor abnormalities, cognitive impairment, and symptoms of nervous system hyperexcitability.	has_symptom
+37db261e7025d949a0c1275711f29764fcd0c021	Other symptoms include @DISEASE$ like chorea or abnormal orofacial movements, @PHENOTYPICFEATURE$, cognitive impairment, and symptoms of nervous system hyperexcitability.	false
+20038611e5e3d9f6c29a11540cfd8caa2b37e70d	Other symptoms include @DISEASE$ like chorea or abnormal orofacial movements, oculomotor abnormalities, @PHENOTYPICFEATURE$, and symptoms of nervous system hyperexcitability.	false
+462895afe50c44941609730522542725c86cc282	Other symptoms include movement disorders like @DISEASE$ or abnormal orofacial movements, oculomotor abnormalities, @PHENOTYPICFEATURE$, and symptoms of nervous system hyperexcitability.	false
+2205dc3dc7c7f036ab36ff43e83472e822b7e836	Other symptoms include movement disorders like @DISEASE$ or abnormal orofacial movements, @PHENOTYPICFEATURE$, cognitive impairment, and symptoms of nervous system hyperexcitability.	false
+21d4499dbe2ab1e06e351183a7264dcdd93410b0	Benign hereditary @DISEASE$ (BHC) is a rare autosomal dominant nonprogressive @PHENOTYPICFEATURE$.	has_symptom
+631db1bf251215a2be69ec4b2e9f509423be0415	We included 10 patients with HD and 12 patients with @DISEASE$-like hyperkinetic @PHENOTYPICFEATURE$ (non-HD).	has_symptom
+25fd4e3bb3710ccabb4dd456a159c6db4541af91	This is the first report we are aware of about a transient, @DISEASE$-like psychomotor @PHENOTYPICFEATURE$ associated with sibutramine.	has_symptom
+909011e56e3abf24e2da8e8c207d86ad75bc306d	@DISEASE$-ballism is a rare form of @PHENOTYPICFEATURE$ complicated by severe hyperglycaemia and in association with a contralateral basal ganglia lesion.	has_symptom
+dd2a911a9ba79b001b5166e0ba7cab050c3f5cc0	Benign hereditary @DISEASE$ (BHC) is a hyperkinetic @PHENOTYPICFEATURE$ that historically has been characterized as a nonprogressive, dominantly inherited, childhood-onset chorea with normal intelligence.	has_symptom
+a9d94892b6c1866630d0e6a5821428a07328974e	We investigated a family that presented with an infantile-onset @DISEASE$-predominant @PHENOTYPICFEATURE$, negative for NKX2-1, ADCY5, and PDE10A mutations.	has_symptom
+8404ae74e9ef39b03d1addcc8f1735699d839853	Homozygous individuals with @DISEASE$ (AATD) type PiZ have an increased risk of chronic liver disease and @PHENOTYPICFEATURE$ (HCC).	has_symptom
+f6eab3d45dc66da91a5cc1501a381b5ac3754d98	@DISEASE$ (SBMA) is an X-linked disease characterized by degeneration of motor neurons, @PHENOTYPICFEATURE$, and progressive weakness.	has_symptom
+bde723e73167bf0c01edb0cafc4a96bbf6f7af2a	The X-linked spinal and bulbar @PHENOTYPICFEATURE$ (SBMA; @DISEASE$) is associated with an expanded length (> 40 residues) of one of the polyglutamine stretches in the N-terminal domain of the androgen receptor.	has_symptom
+79ed0d054c30ea2486b44e04286c35b4d714b569	Spinal and bulbar muscular atrophy (SBMA), also known as @DISEASE$, is an adult-onset, X-linked motor neuron disease characterized by @PHENOTYPICFEATURE$, weakness, contraction fasciculations, and bulbar involvement.	has_symptom
+f19cd8b79798dba84c956bc4c9b6ff5e94d0789f	Spinal and bulbar @PHENOTYPICFEATURE$ or @DISEASE$ (KD) is an X-linked recessive disorder caused by a pathogenic CAG expansion in the first exon of the androgen receptor.	has_symptom
+7bde76caaafae70c7b8a734be8f15a1a21c781dc	X-linked recessive @DISEASE$ (SBMA) is an adult-onset X-linked neurodegenerative disease, characterised by @PHENOTYPICFEATURE$, bulbar symptoms and endocrinological disturbances.	has_symptom
+95fa7b728bab4565219e5f24b1f44b96a386c16d	Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation responsible for spino-bulbal @PHENOTYPICFEATURE$ (SBMA or @DISEASE$).	has_symptom
+1ca834786d9ea328207d504d566943c33987a9a1	We conclude that (a) @PHENOTYPICFEATURE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, @DISEASE$, and probably familial juvenile nephronophthisis.	has_symptom
+4634bae4663e025433522b0e39157fce8076c770	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, @DISEASE$, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+5fc6b41c385f26d4b85d56ec3ee588a673a2631a	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken @DISEASE$, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+d8d6db22c18f85d62ffbabed94c8bc7d12d34359	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, @DISEASE$, and probably familial juvenile nephronophthisis.	false
+2582deb6f8bb71aa4ecd4fdb5839925ce8992a7d	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including @DISEASE$, Arima syndrome, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+c4fba058a4edc0c867e2afa3dbb9a6babd0ab623	We conclude that (a) @DISEASE$, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.	false
+678d396e5787fd284ad5a1e95d47a884a6580d16	@DISEASE$: report of two brothers with congenital hepatic fibrosis, @PHENOTYPICFEATURE$, oligophrenia, ataxia, and mental retardation.	has_symptom
+59d3cd8818a26ad1ed1f54510fcbde6f9ddcc36a	COACH syndrome: report of two brothers with @DISEASE$, cerebellar vermis hypoplasia, oligophrenia, ataxia, and @PHENOTYPICFEATURE$.	false
+4b091fee61d0f3be589f456591f825410a1c67d6	COACH syndrome: report of two brothers with @DISEASE$, cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, and mental retardation.	false
+28517b815e9f396ada604f59b003f9ca638615d9	COACH syndrome: report of two brothers with congenital hepatic fibrosis, @DISEASE$, oligophrenia, ataxia, and @PHENOTYPICFEATURE$.	false
+54c33902adbb13721eecdfe7a85ca9646f62b634	COACH syndrome: report of two brothers with congenital hepatic fibrosis, @DISEASE$, oligophrenia, @PHENOTYPICFEATURE$, and mental retardation.	false
+757ad45b1d34926cd5bc7062bcfc81f71dadcc59	@DISEASE$: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and @PHENOTYPICFEATURE$.	false
+08353481f5de4e8efaa844532daca3ccb17fe99d	@DISEASE$: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, and mental retardation.	false
+70723ed369863235e1f504d49ede73d069eea7e9	The @DISEASE$ is a very rare disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	has_symptom
+6c3111c86bed8510b6a742f69d53465e47870d56	The COACH syndrome is a very rare disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and @DISEASE$ fibrosis.	false
+c8ffa4eac95fb5676c02f04110187112db953afc	The COACH syndrome is a very rare disorder with @DISEASE$, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+384bbf304b28835c93817e957747d451077bfb91	The COACH syndrome is a very rare disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, @DISEASE$, and hepatic fibrosis.	false
+e7617f17d42d4a68ae984359c7a088ecf578bd02	The COACH syndrome is a very @DISEASE$ disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+61c7d09aebc26743bf0a99d34a7ac098e2a857bf	The @DISEASE$ is a very rare disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+34670874bb702d9633f122d3d4ca1272149f2e3c	This pattern of defects is consistent with @DISEASE$ (@PHENOTYPICFEATURE$, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) which has previously been reported in five other cases.	has_symptom
+466b1f2061530aa36167c92f381bf1744f045ff0	@DISEASE$ is a disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	has_symptom
+d2628a917fd2f4f1d8f062525660d6d0a189499a	COACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, @DISEASE$, and hepatic fibrosis.	false
+c9656a2e6a2a7548a241604cce7c0f96f8ea576c	@DISEASE$ is a disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+b93cb4d97af98cbd2217a5ee5fac30c37878d7a5	COACH syndrome is a disorder with @DISEASE$, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+377f604e455ff10da5e83a35db299c943254eb6b	COACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and @DISEASE$ fibrosis.	false
+ec1caaf76817618631d0898fdcde64b3be5500bc	@DISEASE$ is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	has_symptom
+0ca94e38da25f95278fb75652b4ada543b05e5f5	COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by @DISEASE$, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+547f9710765975076e66c3a497a274954861d673	COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, @DISEASE$, and hepatic fibrosis.	false
+1c77cddbed17720a4b72969c301b72f1482f6947	COACH syndrome is an autosomal recessive developmental disorder, a subtype of @DISEASE$, characterized by cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+79ef47407078fde05f4139970868766708053254	COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and @DISEASE$ fibrosis.	false
+e382dee0e42af9581875be164d831eb6dbfe2026	@DISEASE$ is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, @PHENOTYPICFEATURE$, coloboma, and hepatic fibrosis.	false
+b6f052fc192285618c38e1c82e4ec12f5f601a2a	Genetic mutations in any of these factors can lead to congenital hypopituitarism in association with a wide spectrum of craniofacial/midline defects ranging from incompatibility with life to holoprosencephaly (@DISEASE$) and @PHENOTYPICFEATURE$ and septo-optic dysplasia (SOD).	has_symptom
+6ea1917c020902c8ccff1793513257bd1f24c517	Microtia, cleft lip/palate, and microstomia were preferentially associated with @DISEASE$, but @PHENOTYPICFEATURE$ only was not.	has_symptom
+bcf183c0c43d5bd1d6825ee8c3994cfb0f95e42b	In turn, these defects can be incompatible with life, or lead to disorders encompassing holoprosencephaly (@DISEASE$) and @PHENOTYPICFEATURE$, and septo-optic dysplasia (SOD).	has_symptom
+234e33764161592e2b481da76bfa91a00417eecd	We investigated the relationship between @PHENOTYPICFEATURE$ and parameters of @DISEASE$ stiffness and carotid intima media thickness (CIMT) in patients with type 2 diabetes mellitus (T2DM).	has_symptom
+2d9cff70cd30bcd64fb0ecf883e75b55a9c9e7af	The risk of tissue damage of the foot in diabetic subjects is due to a combination of @DISEASE$ insufficiency and @PHENOTYPICFEATURE$.	has_symptom
+372c6c19649f55d1ac0d592b123ea70817e6c3d6	The combination of @PHENOTYPICFEATURE$ and @DISEASE$ insufficiency in patients with diabetes frequently results in chronic non-healing foot ulcers.	has_symptom
+c621a189f8609fc1a2eafa252cb3763fcb26c4d9	Patients with CMTX5 and @DISEASE$ have @PHENOTYPICFEATURE$, including hearing impairment and optic atrophy.	has_symptom
+4d5761c4912e402c39a610a73320a03803981da8	Patients with CMTX5 and @DISEASE$ have peripheral neuropathy, including hearing impairment and @PHENOTYPICFEATURE$.	false
+a640e220f2ce3587a401d07f892c1e52feca4700	Patients with CMTX5 and Arts syndrome have @DISEASE$, including @PHENOTYPICFEATURE$ and optic atrophy.	false
+8cb862dcd96cc6d1199526b9581d7a00370ec1c6	Patients with CMTX5 and @DISEASE$ have peripheral neuropathy, including @PHENOTYPICFEATURE$ and optic atrophy.	false
+95182fe547cf56ae4a749c378b662b5e5af535a3	Patients with CMTX5 and Arts syndrome have @DISEASE$, including hearing impairment and @PHENOTYPICFEATURE$.	false
+e7a6d88f3f9f7395f6e58d70968edb558f24b0f8	Ulcers and infections occur among patients with predisposing factors such as @PHENOTYPICFEATURE$ and @DISEASE$ insufficiency, and require a multi-disciplinary care system.	has_symptom
+c8d1e92419242f566eea9369137ce72ab24796ca	The autopsy study revealed unusual findings of @PHENOTYPICFEATURE$ and spheroid formation in addition to @DISEASE$ structural abnormalities and perivascular demyelination which are common in cases of homocystinuria.	has_symptom
+40b7cb066e8f7ffc0a00800030ff36cf6fa103b1	Allowance must be made for the often silent nature of the @DISEASE$ lesion, explicable by the associated @PHENOTYPICFEATURE$ and the site of the lesions, generally more distal or staged than in non diabetics.	has_symptom
+717ba9f3a1d025e01200aeba9c600694d1e5018b	The burdensome adverse effect profile of teriflunomide is similar to that of leflunomide and includes hepatotoxicity, infections, leukopenia, @DISEASE$ hypertension, @PHENOTYPICFEATURE$ and alopecia.	has_symptom
+c581dd305c68fd673c19f8f1699497df9dc6d1f0	Diabetic kidney disease, retinopathy, @PHENOTYPICFEATURE$, cardiovascular autonomic neuropathy, @DISEASE$ stiffness, and hypertension.	has_symptom
+6f0fd4b1300ff9e5a455db3d9886f7fca6b9d647	This study was conducted to investigate the association of diabetic @PHENOTYPICFEATURE$ (DPN) with both @DISEASE$ stiffness and intima-media thickness (IMT).	has_symptom
+edbc23598a5d3adaec10ad21de620674a2624f41	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, @PHENOTYPICFEATURE$, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	has_symptom
+96333de8de16eb811ce3fd2d1635164255ca1cb4	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, @PHENOTYPICFEATURE$, truncal @DISEASE$, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+87c0bb8a3180018c5094685ed8d41f76e0822489	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, @PHENOTYPICFEATURE$, truncal obesity, small hands and feet, @DISEASE$, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+ad83d8d06ee014b624bd9867b2c456c745c037e5	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe @PHENOTYPICFEATURE$ and no sign of precocious puberty.	false
+477c6937548bb04cfb93cd1cfa4275ff4fbf47c4	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal @DISEASE$, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+7720d987465447bf4f2fff9d63e0fa790ba3fef3	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, @DISEASE$, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+5179d03003be00d90a94c2365099e484e1e2f1e2	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, @PHENOTYPICFEATURE$, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+13213211deeeacf359a7af646dae959772b6cc54	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+7971e9099d2ddcf217778ad7a702fb0eb0763a76	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal @DISEASE$, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe @PHENOTYPICFEATURE$ and no sign of precocious puberty.	false
+6c65a4d6f2c2427fc6f754646ab742316c5643a1	Most clinical features of our patient were consistent with those previous reported for (UPD14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, @DISEASE$, and mild facial dysmorphism, but our patient showed more severe @PHENOTYPICFEATURE$ and no sign of precocious puberty.	false
+d9437be051da2eb8110e8ba6f74327026b2aa5a4	KANSL1 haploinsufficiency causes @DISEASE$ (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and @PHENOTYPICFEATURE$ also commonly occur.	has_symptom
+fe41981db435c6d7343c4a4b02228cd02289f464	KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and @PHENOTYPICFEATURE$; amiable personality, congenital malformations and @DISEASE$ also commonly occur.	false
+8befad6cb0ee9340cfcc0e686d4a6e94f05bac15	KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and @PHENOTYPICFEATURE$; amiable personality, @DISEASE$ and seizures also commonly occur.	false
+c62411ff975510a9c2c80f446f2deb76df788edd	KANSL1 haploinsufficiency causes @DISEASE$ (KdVS), characterized by dysmorphic features and @PHENOTYPICFEATURE$; amiable personality, congenital malformations and seizures also commonly occur.	false
+6c0a264960c4ab0359dee337c639fcb49544d002	Our results confirm that biallelic ERCC4 mutations cause a @PHENOTYPICFEATURE$-dominant phenotype with mild cutaneous symptoms, possibly accounting for a high proportion of the genetic causes of ARCA in Japan, where @DISEASE$ is prevalent.	has_symptom
+fbd29e89c3dd7381b0fb2a842cbabc902f93e5e4	Olopatadine was approved in Japan for the treatment of allergic rhinitis, chronic urticaria, @DISEASE$, prurigo, @PHENOTYPICFEATURE$ cutaneous, psoriasis vulgaris and erythema exsudativum multiforme in December, 2000.	has_symptom
+07dca1b43438362d46d0fdbd3857719ee279f80b	The rarity of anal @DISEASE$ and anal @PHENOTYPICFEATURE$ in Mohammedans].	has_symptom
+a5bef8e3d90dc547be87564635134259732c70c2	Chloromycetin for @DISEASE$ and @PHENOTYPICFEATURE$ of the ear canal.	has_symptom
+ed81e77cf42e33de78e87eb3e67647bc399ddab0	Emedastine difumarate, a selective histamine-H1 receptor antagonist and effective antiallergic agent, inhibits various clinical symptoms of allergic rhinitis, allergic conjunctivitis, urticaria, @DISEASE$, @PHENOTYPICFEATURE$ cutaneous, and prurigo.	has_symptom
+47740c5d462bb985c4d268d238544ff02043106a	The drug (Allelock) was approved in Japan for the treatment of allergic rhinitis, chronic urticaria, @DISEASE$, prurigo, cutaneous @PHENOTYPICFEATURE$, psoriasis vulgaris and erythema exsudativum multiforme in December, 2000.	has_symptom
+711aa8698b8c9157fdcfe9cd56c0af0023400373	@DISEASE$ (AD) is a prevalent, chronic, @PHENOTYPICFEATURE$ condition.	has_symptom
+fbd29e89c3dd7381b0fb2a842cbabc902f93e5e4	Olopatadine was approved in Japan for the treatment of allergic rhinitis, chronic urticaria, @DISEASE$, prurigo, @PHENOTYPICFEATURE$ cutaneous, psoriasis vulgaris and erythema exsudativum multiforme in December, 2000.	has_symptom
+239e8dfb3dec1e07cb9a3be9a12509357e6b4bf6	These findings may have implications for the pathophysiology and possible therapy of neuroinflammatory skin disorders such as @DISEASE$, neurogenic @PHENOTYPICFEATURE$, or psoriasis, which are induced or exacerbated by stress.	has_symptom
+f7553feead651c9595c0007c0185ff6f020a914b	@DISEASE$ (AD) is a type of chronic skin inflammation and one of the most common relapsing allergic diseases, which presents with a severe rash and @PHENOTYPICFEATURE$ lesions.	has_symptom
+7246d72021a4e80ae90fbbf0beaca2fe25055073	They included 50 cases with chronic urticaria, 32 with @PHENOTYPICFEATURE$ cutaneous, 74 with @DISEASE$, 15 with nummular dermatitis, 17 with prurigo chronica multiformis, 6 with psoriasis vulgaris, and 4 with erythroderma.	has_symptom
+ce15b8bce627a16b1e45e5e25db58702285f792b	Overall the frequency of FXTAS in our cohort was found to be 3.3% among cases of late onset @PHENOTYPICFEATURE$/tremor; however, incidences were higher among cases with @DISEASE$-like syndrome (9%, 2/23).	has_symptom
+7101c4f7e63d65c5ae0143346f1083104fa6c65e	@DISEASE$ (SCA12) is a rare form of an autosomal-dominant @PHENOTYPICFEATURE$ disorder associated with an expansion of CAG repeat length.	has_symptom
+a243a22ac3da46a14692ee5a29e2c00bdb744289	@DISEASE$ identified in two Italian families may mimic sporadic @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0312d24e23bd212b90b17cef7dfc145b5c7933f2	Serum levels of Th17-related cytokines in @DISEASE$ patients after @PHENOTYPICFEATURE$ surgery.	has_symptom
+731a2de005ee144cfda62def9e92d4fbcf38a5e9	To investigate the profile of T-helper type 17 (Th17) cell-related cytokines (interleukin-23 [IL-23], IL-27, IL-17 and interferon-? [IFN-?]) in postoperative inflammation in patients with @DISEASE$ (BD) after @PHENOTYPICFEATURE$ surgery.	has_symptom
+06d78035c7fe79cba1e2070d72760b89c37330b7	WES identified a novel de novo mutation (p.Gly268Arg) in ACTB (@DISEASE$), a homozygous stop mutation (p.R2442*) in ASPM (primary @PHENOTYPICFEATURE$ type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).	has_symptom
+e0df8177c62965f2d069a91d40a8cbb7f54bb57c	WES identified a novel de novo @PHENOTYPICFEATURE$ (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked @DISEASE$ mentaly retardation, Christianson type).	false
+252e6a9d047b5c42c71d850476f39407223abb90	WES identified a novel de novo @PHENOTYPICFEATURE$ (p.Gly268Arg) in ACTB (@DISEASE$), a homozygous stop mutation (p.R2442*) in ASPM (primary microcephaly type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).	false
+a2c9204a448740a38f610c58eb6f29b837e99551	WES identified a novel de novo @PHENOTYPICFEATURE$ (p.Gly268Arg) in ACTB (Baraitser-Winter syndrome-1), a homozygous stop mutation (p.R2442*) in ASPM (primary @DISEASE$ type 5), and a novel hemizygous X-chromosomal mutation (p.I250V) in SLC9A6 (X-linked syndromic mentaly retardation, Christianson type).	false
+63d19d02f24dbd16fb3941c06774e6fb97ce3b20	In the internal medicine, pruritus commonly presents on primarily non-inflamed skin., involvement of the skin and gastrointestinal tract are two independent risk factors of pruritus in @DISEASE$, and of anal/vulvar @PHENOTYPICFEATURE$.	has_symptom
+5a149a0ab6a663cc45b7168d139658796b2deea0	@DISEASE$ is a disease frequently treated by rheumatologists and dermatologists due to prominent systemic features of inflammatory myositis, less common arthritis, and rare systemic @PHENOTYPICFEATURE$, in addition to the characteristic cutaneous manifestations of Gottron's papules over extensor surfaces, and a heliotrope rash over the eyelids.	has_symptom
+d2b0fed8fa39849c335c157bef54b44f6b6ad910	We report a male with late infantile @DISEASE$ (Pompe's disease) who presented at 12 months of age with @PHENOTYPICFEATURE$ and developmental delay.	has_symptom
+3c0cf1f50728b35be3110935b464627fba9855a2	High frequency of @DISEASE$ (BPAN) among patients with @PHENOTYPICFEATURE$ and young-onset parkinsonism.	has_symptom
+3086da26bac91d91cb3bd4614d90c953b6599558	Adult @DISEASE$ patients completed the online @PHENOTYPICFEATURE$ Outcomes Questionnaire II.	has_symptom
+ac37994e9bfe03c83fc6ee647c316a4a6f81cf25	PBXIP1 is a novel protein overexpressed in astrocytoma and @DISEASE$, involved in @PHENOTYPICFEATURE$ cell proliferation and migration, that warrants further exploration as a novel therapeutic target in these tumors.	false
+51efba97aec45ce946981c4077c284e0bc4bc669	PBXIP1 is a novel protein overexpressed in astrocytoma and @DISEASE$, involved in tumor cell proliferation and migration, that warrants further exploration as a novel therapeutic target in these @PHENOTYPICFEATURE$.	false
+4180636d4a1468ebeaf4ca7b6a2a1c4fa59e9da1	A 59-year-old man presented with upper @PHENOTYPICFEATURE$, cholestasis and radiological evidence of common hepatic duct hilar stricture which was suggestive of @DISEASE$.	has_symptom
+7e25e331d4e9ac293628aee693f60f0b8dcf7ec8	Patients presented with deranged liver function, cholangitis, @DISEASE$, @PHENOTYPICFEATURE$, cirrhosis, or were diagnosed incidentally.	has_symptom
+cbf37964f122f34f953a35486c62210ab88e4bdd	Before the operation, the incidences of @DISEASE$ and complications, nutritional screening score ? 3, ASA degree III and Child-Pugh grade A in group A were significantly higher than those in group B (p < 0.05), while the incidences of nausea and vomiting, @PHENOTYPICFEATURE$, nutritional screening < 3 and ASA grade I in group A were significantly lower than those in group B (p < 0.05).	has_symptom
+cca5466edf529c30fb2a3c4218011436b4ca7905	Before the operation, the incidences of cholangiocarcinoma and complications, nutritional screening score ? 3, ASA degree III and Child-Pugh grade A in group A were significantly higher than those in group B (p < 0.05), while the incidences of @PHENOTYPICFEATURE$, @DISEASE$, nutritional screening < 3 and ASA grade I in group A were significantly lower than those in group B (p < 0.05).	false
+6f03fa29a0a68660fa7a491393b7f683a43e7674	Before the operation, the incidences of @DISEASE$ and complications, nutritional screening score ? 3, ASA degree III and Child-Pugh grade A in group A were significantly higher than those in group B (p < 0.05), while the incidences of @PHENOTYPICFEATURE$, abdominal pain, nutritional screening < 3 and ASA grade I in group A were significantly lower than those in group B (p < 0.05).	false
+60a9f32cfe7ac9c3f17b979f0be0fe6b0276859a	An 84-year-old woman with a history of surgery for @DISEASE$ presented to Akita University Hospital with severe right lower @PHENOTYPICFEATURE$, respiratory distress, and hypotension.	has_symptom
+57ac16b7493a9b0f497b273c9031324e86cddb5e	The developing symptoms included @PHENOTYPICFEATURE$, hepatic abscess, cholangitis, and @DISEASE$.	has_symptom
+36f6495464ebf2e5c0f8fce658de95cfaa6c37ca	A 26 year old African man presented with @PHENOTYPICFEATURE$ and obstructive jaundice was found to have a localised distal bile stricture suggestive of @DISEASE$ which was resected by pylorus preserving partial pancreaticoduodenectomy. Histology revealed a gct of the intrapancreatic portion of the distal bile duct.	has_symptom
+9f8b49bb2e8534c81639d8b2f1faca7c89a15326	A 39-year-old man with @DISEASE$ presented with fever and @PHENOTYPICFEATURE$.	has_symptom
+d35cf4eec2dac941bd2a80093d186e739152fd53	A 39-year-old man with @DISEASE$ presented with @PHENOTYPICFEATURE$ and abdominal pain.	false
+63140c90e3d85996babadc88a10866a4dd805829	A 39-year-old man with cholangiocarcinoma presented with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cb5b10f2d251425597c7920c73bea3503648cc5c	This study presents a case of extensive metastatic @DISEASE$ with IgG4-SC misdiagnosed as isolated IgG4-SC, and reviews recent studies of the 2 diseases.A 56-year-old man with no family history of malignant tumors or liver diseases presented with recurrent mild @PHENOTYPICFEATURE$ and distention for 3 months.	has_symptom
+3539089087601b9ca222e22f24e5e6a13b556a0d	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, @PHENOTYPICFEATURE$, mental retardation and ptosis.	has_symptom
+366592b66532aaaf96c02a236220353e04e83cfc	A second patient with Tsukahara syndrome: type A1 brachydactyly, @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, mental retardation and ptosis.	false
+86628b1456f97d4adaba5e44fcc64b57ac0f9502	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, @PHENOTYPICFEATURE$ and ptosis.	false
+eaf0afac3b5d6b1a5d16ff982565bfde8ce5599c	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+1d68ea39cf262b98bcd2d3063dc58205e83665c1	A second patient with @DISEASE$: type A1 brachydactyly, @PHENOTYPICFEATURE$, hearing loss, microcephaly, mental retardation and ptosis.	false
+caf873a2e86848d6421007d25ffcc9d8c7039fbf	A second patient with Tsukahara syndrome: type A1 brachydactyly, @PHENOTYPICFEATURE$, hearing loss, @DISEASE$, mental retardation and ptosis.	false
+c758fb9eb77149a2ae8e5d06e8b10f14946b8931	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, @DISEASE$, @PHENOTYPICFEATURE$ and ptosis.	false
+4cb4dff04a91fc3eba890b3dd17e9c2d62208e73	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+9240920a6314ab2d470a03a5cb48a8ad869ac099	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, @DISEASE$, mental retardation and @PHENOTYPICFEATURE$.	false
+9d89d2171ca0d39e98d07ca4fd4ba2e357cc1d9d	A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$ and ptosis.	false
+343567a5ff6e1306dab4f5220200ca03d680fdf1	The lack of @PHENOTYPICFEATURE$ in the family suggested a variant of Giuff?-@DISEASE$ but could represent variability	has_symptom
+1f1bd63c397f9947441bedad607000cea7faec21	From a clinical synopsis, we consider the Giuffr?-@DISEASE$ as one genetic entity, which is characterized by the association of @PHENOTYPICFEATURE$ and radio-ulnar synostosis, mental retardation in male patients and variable minor features.	has_symptom
+721faf0682e8b73a995761791dbb26fac15d9f6c	From a clinical synopsis, we consider the Giuffr?-@DISEASE$ as one genetic entity, which is characterized by the association of microcephaly and radio-ulnar synostosis, @PHENOTYPICFEATURE$ in male patients and variable minor features.	false
+c032de74aff6440aa2c8715a6495a180d6d5a147	From a clinical synopsis, we consider the Giuffr?-Tsukahara syndrome as one genetic entity, which is characterized by the association of @DISEASE$ and radio-ulnar synostosis, @PHENOTYPICFEATURE$ in male patients and variable minor features.	false
+532bbfe1d5fa47293e77d918e588df455c5f4130	We report on a girl with Giuffr?-@DISEASE$ manifesting @PHENOTYPICFEATURE$, mental retardation, radio-ulnar synostosis, short stature and scoliosis.	has_symptom
+58e9193985c7825db0e15d379651dedbeba0d6b5	We report on a girl with Giuffr?-@DISEASE$ manifesting microcephaly, mental retardation, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and scoliosis.	false
+c32b0ac5993cf2e77658e6392393b08194f5b999	We report on a girl with Giuffr?-Tsukahara syndrome manifesting @DISEASE$, @PHENOTYPICFEATURE$, radio-ulnar synostosis, short stature and scoliosis.	false
+7f9f7d2e00ce7fb4809cc77d3aeedbff6ce528df	We report on a girl with Giuffr?-Tsukahara syndrome manifesting microcephaly, @PHENOTYPICFEATURE$, radio-ulnar synostosis, short stature and @DISEASE$.	false
+1f2d2f8421371475c3449a2dd68248e8964ab8f6	We report on a girl with Giuffr?-@DISEASE$ manifesting microcephaly, @PHENOTYPICFEATURE$, radio-ulnar synostosis, short stature and scoliosis.	false
+ac23bc15a2e3ab60a806f9bacf7ef15a8246b3ae	We report on a girl with Giuffr?-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+10cd56b50119c5345e2c3444ae3cacf362ac01c5	We report on a girl with Giuffr?-Tsukahara syndrome manifesting @DISEASE$, mental retardation, radio-ulnar synostosis, @PHENOTYPICFEATURE$ and scoliosis.	false
+19642dc7bbfaa3c25c6a8e58b2b9fa479111650b	Clinical delineation of Giuffr?-@DISEASE$: another case with @PHENOTYPICFEATURE$ and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.	has_symptom
+7b7f7b519347808735d0a1a632d811274800cd0f	@DISEASE$ of radioulnar synostosis, short stature, @PHENOTYPICFEATURE$, scoliosis, and mental retardation.	has_symptom
+31c0a892631aed66a543fcaa69214cecd875f225	Tsukahara syndrome of radioulnar synostosis, @PHENOTYPICFEATURE$, @DISEASE$, scoliosis, and mental retardation.	false
+66bbb666fc0d333c474ae0e72b1fec6e63b11267	Tsukahara syndrome of radioulnar synostosis, short stature, @DISEASE$, scoliosis, and @PHENOTYPICFEATURE$.	false
+0d43c246a215b735721e66b562ed5414ab6ebe17	Tsukahara syndrome of radioulnar synostosis, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and mental retardation.	false
+84e88ced50e717d5515ee2ad4ae2e9642e6c0566	@DISEASE$ of radioulnar synostosis, @PHENOTYPICFEATURE$, microcephaly, scoliosis, and mental retardation.	false
+c813c05ab844e39c8dba4ec479a863480c7c9f0b	@DISEASE$ of radioulnar synostosis, short stature, microcephaly, scoliosis, and @PHENOTYPICFEATURE$.	false
+3bb145c355ec816cb8edfb41c9fb4a343f528136	Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+51a3b5f0062118f4acc2fb5c91ca934f342bf2ed	Peroxisome biogenesis disorders (PBDs) are a group of @PHENOTYPICFEATURE$ developmental and progressive metabolic diseases leading to the @DISEASE$ (ZS) phenotype in most instances.	has_symptom
+333cd1a3d177993e3b5ba20f532cdf85f6704cca	@DISEASE$ (PBDs) are a group of @PHENOTYPICFEATURE$ developmental and progressive metabolic diseases leading to the Zellweger spectrum (ZS) phenotype in most instances.	has_symptom
+5ad1fb40b79db7bc0eabf6d09d47443960b2a7b3	Growth hormone deficiency in a case of @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+f8102b4d7da3acf39fd3f2ff7a58546b4c4a8adb	More severe physical manifestations, such as Chiari malformation, @PHENOTYPICFEATURE$, and atresia or stenosis of the choanas, which are unusual in individuals with classic @DISEASE$, are reported in these patients.	has_symptom
+45307724efcbe5b8ff42dd8eff994fed93beb7b1	All the patients with @DISEASE$ and progressive @PHENOTYPICFEATURE$ had a Chiari malformation, but only 19 out of the 33 patients without associated hydrocephalus had a Chiari malformation (57.6%).	has_symptom
+1a482efe205ac8be835d2eca7ce194a425a355b2	All the patients with @DISEASE$ and progressive hydrocephalus had a Chiari malformation, but only 19 out of the 33 patients without associated @PHENOTYPICFEATURE$ had a Chiari malformation (57.6%).	has_symptom
+767eed9b456b4b22d7ddb947c2711b53797ac253	Here, we report the successful treatment of a child with a complex leptomeningeal cyst on one hemisphere, @DISEASE$, and @PHENOTYPICFEATURE$ who showed no cyst recurrence over 2 years of follow-up.	has_symptom
+8b6da4c28126c341e00788324354441b5475577c	Even before acanthosis nigricans appears, the presence of choanal atresia and @PHENOTYPICFEATURE$ in an individual with features of @DISEASE$ should suggest the diagnosis of CAN, and subtle skeletal findings can lend further support to this diagnosis.	has_symptom
+2d7ccf210355be3e30d6fa6700a5d1976501a2a8	A 16-year old boy had @DISEASE$, @PHENOTYPICFEATURE$, and syringomyelia.	has_symptom
+3af1fabe42297921488ed0cc74fd074d9bb34a10	Choanal atresia, @PHENOTYPICFEATURE$ and the cranial features of @DISEASE$ should suggest the diagnosis of CAN even before acanthosis appears.	has_symptom
+27a53953238c26f1fbcccda9163eb2b961629a23	Since growth retardation is not a common feature of Crouzon syndrome, we reviewed the literature for the incidence of @PHENOTYPICFEATURE$ in @DISEASE$ and the association with growth hormone deficiency.	has_symptom
+24aa74a11b46e0c9f02c476b86a2283a45d2511e	Since growth retardation is not a common feature of @DISEASE$, we reviewed the literature for the incidence of @PHENOTYPICFEATURE$ in Crouzon syndrome and the association with growth hormone deficiency.	has_symptom
+6f726c399c29870d0e1127da1e85f09706526240	Shunt-dependent @PHENOTYPICFEATURE$ is predominantly associated with Crouzon or Pfeiffer syndrome while in the Apert syndrome the usual finding is nonprogressive ventriculomegaly which, however, may also occur in some cases of @DISEASE$.	has_symptom
+6e36f26e6f02aef2cbe273d2963697556b3a4ba7	We describe a 5-month-old female who presented with clinical features of @DISEASE$, including high-pitched cry, @PHENOTYPICFEATURE$, micrognathia, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay.	has_symptom
+671f48c6a0fd9cca5f65545380e402a2635ced97	We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, @DISEASE$, @PHENOTYPICFEATURE$, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay.	false
+9bf2cc0937030ae2b3cf8f4988773a9222d61b5d	We describe a 5-month-old female who presented with clinical features of @DISEASE$, including high-pitched cry, microcephaly, @PHENOTYPICFEATURE$, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay.	false
+1d8a2f4079620516ee37f6c2378f9d452e320aac	We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, microcephaly, @PHENOTYPICFEATURE$, bilateral preauricular tags, @DISEASE$, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay.	false
+07e7cb01f3a0e04b7d2f320452640e964d1bd489	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, facial dysmorphism, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+8c25e3e9f1daf93ecf81e58464382e9f7655370c	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+58dad603de0b7e9e88fe7c442b945f9d46ec0ba3	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a @DISEASE$, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+7df779839dab5f794638c787bb4b296049d676c2	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a @DISEASE$, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, facial dysmorphism, microcephaly, and @PHENOTYPICFEATURE$.	false
+b333f0defb9312aa9470501c370662adbd54e8b4	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation.	false
+c46c46b334b9cb31a8efbf6175a265a783a3effb	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (cat cry syndrome), which is characterized by a cat-like cry in infancy, facial dysmorphism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e457d14227f2532d2cc4f4e295cc15831db1171a	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, facial dysmorphism, microcephaly, and @PHENOTYPICFEATURE$.	false
+923ebfe4f86984e611d7f39a31239aaf774b5461	Four patients with @DISEASE$ (three with bilateral endolymphatic sac tumors) and progressive @PHENOTYPICFEATURE$ in which preoperative imaging studies revealed in situ or small endolymphatic sac tumors without ipsilateral labyrinthine destruction.	has_symptom
+7d64a9f6eb7d5e53caf86b959f143952e5740f17	Endolymphatic sac tumors (ELSTs) are associated with @DISEASE$ and cause irreversible @PHENOTYPICFEATURE$ (SNHL) and vestibulopathy.	has_symptom
+7a6ca08e3e1376880a029fc6bb280b216807a6c8	Fever, @PHENOTYPICFEATURE$, acute anemia, and renal failure in patient undergoing orthotopic liver transplantation: posttransplantation @DISEASE$.	has_symptom
+c58c39175b236d3edc629aba18ddf089816d6a3d	Fever, mental impairment, acute anemia, and @PHENOTYPICFEATURE$ in patient undergoing orthotopic liver transplantation: posttransplantation @DISEASE$.	false
+48389e18c00082b74ab2724aa612bb10c1041902	Fever, mental impairment, acute @DISEASE$, and @PHENOTYPICFEATURE$ in patient undergoing orthotopic liver transplantation: posttransplantation malaria.	false
+392269e917a4c4db702c0337c87630d4ee0a0c84	Fever, @DISEASE$, acute anemia, and @PHENOTYPICFEATURE$ in patient undergoing orthotopic liver transplantation: posttransplantation malaria.	false
+cf845e74b423f01202d0673b062a52754d1a8635	Some surviving patients have an increased risk of neurological and @PHENOTYPICFEATURE$, behavioural difficulties and epilepsy, making cerebral malaria a leading cause of childhood neurodisability in the @DISEASE$ transmission area.	has_symptom
+dddcbc9d166bed3f5119b92e6b89df7624827067	At 2-year follow-up testing, 26.3% of children with cerebral malaria and 12.5% with uncomplicated @DISEASE$ had @PHENOTYPICFEATURE$ in >or=1 area, as compared with 7.6% of community children.	has_symptom
+caa6ba4bfd88b503f0b5b3228c74d52007765fbe	Adolescents with specific language impairments (mean age = 15;3, n = 14) and @DISEASE$ plus language impairment (@PHENOTYPICFEATURE$ plus language impairment; mean age = 14;8, n = 16) were recruited alongside typically developing adolescents (mean age = 14;4, n = 17).	false
+9005fc1926f7b38ebdaf90a88025de0327dbc54e	Adolescents with specific language impairments (mean age = 15;3, n = 14) and autism spectrum disorders plus language impairment (@PHENOTYPICFEATURE$ plus @DISEASE$; mean age = 14;8, n = 16) were recruited alongside typically developing adolescents (mean age = 14;4, n = 17).	false
+781dc8a3cc9061fc8e2e3f07701aa1c43ee95cd9	Adolescents with specific language impairments (mean age = 15;3, n = 14) and autism spectrum disorders plus @DISEASE$ (@PHENOTYPICFEATURE$ plus language impairment; mean age = 14;8, n = 16) were recruited alongside typically developing adolescents (mean age = 14;4, n = 17).	false
+edcf36a00a167971b532db44ea80b88a85626a36	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, @PHENOTYPICFEATURE$ @DISEASE$ and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+ee0228cb2a0507a27f143f81637e43f6b69c029d	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, @PHENOTYPICFEATURE$ language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+8c8ea2d05d58538ff14303ecb090d5359d542c75	Adolescents with specific language impairments may have more severe syntactic difficulties than adolescents with @PHENOTYPICFEATURE$ plus @DISEASE$, possibly due to their short-term memory limitations.	false
+21e059afcde904c43eb4eb775a7308d3bacae825	A patient who presented with @PHENOTYPICFEATURE$, opisthotonos, catatonia, and autonomic dysfunction developed features consistent with sporadic @DISEASE$.	has_symptom
+a5e71d5d2defeda5e034f2c94f060acb84035642	Significance of thrombocytopenia in patients with primary and postessential thrombocythemia/@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+c7da56c662c37bab4b7e632c226b50373ef5aac3	Cutaneous involvement by post-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+a1bf730e95a4e28edf677269613e87e67fd6f79f	Neutrophil granule subsets and dynamics were studied in 4 patients with @DISEASE$/@PHENOTYPICFEATURE$ and 2 patients with chronic myelogenous leukemia.	has_symptom
+bb8ea6f8dfbbb93c222da6d8bbd89a7de0c2d402	The levels of plasma proMBP were measured by radioimmunoassay in 25 healthy controls, 23 patients with systemic mastocytosis (SM), 11 patients with idiopathic eosinophilia (IE) and a cohort of 170 patients with MPN which included 76 patients with de novo @PHENOTYPICFEATURE$, 42 with @DISEASE$ (PV), 17 with postpolycythemic myeloid metaplasia (Post-PV MF), 21 with essential thrombocythemia (ET) and 14 with postthrombocythemic myeloid metaplasia (Post-ET MF).	has_symptom
+2f4b80c2dd7e46aa6d956889b32d7d2b1d14253f	We assigned 219 patients with intermediate-2 or high-risk primary myelofibrosis, post-@DISEASE$ @PHENOTYPICFEATURE$, or post-essential thrombocythemia myelofibrosis to receive oral ruxolitinib or the best available therapy.	has_symptom
+ef6cac699b27372385b6f9b6b8d02dccfcae4bd4	A phase II study of 5-azacitidine for patients with primary and post-essential thrombocythemia/@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+9d80729a9e3b4e7b69dfd388d646cbbe44fce7fe	We describe a 55-year-old male who was started on lenalidomide 10?mg daily for 21 days followed by 7 days off therapy for the treatment of early stage post-@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+9c53587436bcbed8b525309a77b0818c983cedf2	With the approval of ruxolitinib by the US Federal Drug Administration in November 2011 for high-risk and intermediate-2 risk myelofibrosis, a change in paradigm has occurred in the management of a subset of myeloproliferative neoplasms (MPN): primary myelofibrosis, post-@DISEASE$ @PHENOTYPICFEATURE$, and post-essential thrombocythemia myelofibrosis.	has_symptom
+79f2ad813e71002e38296f45be8310992a886509	We evaluated a 39-year-old chronic alcoholic man with acute multiple @PHENOTYPICFEATURE$ and callosal lesion seen in MRI, diagnosed as @DISEASE$ (MBD), using analysis of electroencephalography (EEG) coherence.	has_symptom
+478e70e439bf4b43a9b3b2e496432fd1d23d3f5c	@DISEASE$ and malignant @PHENOTYPICFEATURE$.	has_symptom
+dd3d3193e1785ad367d081a81d946ec309c7bca8	Tamoxifen-induced @PHENOTYPICFEATURE$ regression associated with @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+a53f505faedf45339df2030868463bddded6202d	Metastatic non-seminomatous germ cell @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+bf052408ae156f75286c87da843959807c39cbec	However, renal @PHENOTYPICFEATURE$ have rarely been described in @DISEASE$ patients.	has_symptom
+50a6d9fd616142bd62f96e622118794df8c23e68	@DISEASE$ and polymyositis are sometimes associated with @PHENOTYPICFEATURE$.	has_symptom
+49e8e3838388b211729f37d4606626ee4931a295	[About the relations between @DISEASE$ and malignant @PHENOTYPICFEATURE$].	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+dca70cab46417c29a7dd9127853996e050a022f4	[@DISEASE$ associated with two @PHENOTYPICFEATURE$].	has_symptom
+34b792f11c3d13d647e3a830035bb4538f6d2811	Resolved new-onset @DISEASE$ patients had larger, well-differentiated @PHENOTYPICFEATURE$ compared to patients with unresolved new-onset DM.	has_symptom
+2341ba5a1a1e2191336e61f7ad1fa3368bd1513b	Resolved new-onset DM patients had larger, well-differentiated @PHENOTYPICFEATURE$ compared to patients with unresolved new-onset @DISEASE$.	has_symptom
+4d1c4b1b1e725a0ebd18a9cabf09c43e5f1f3315	He had a dismorphic face, @PHENOTYPICFEATURE$, cleft palate, and heart anomalies similar to @DISEASE$, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.	has_symptom
+9175500ea3f5152afc835ef0525307b87db73155	He had a dismorphic face, micrognathia, @PHENOTYPICFEATURE$, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or @DISEASE$ typical of the syndrome.	false
+0b5e4c160ac6d219434863949f18146cf5fa3f9a	He had a dismorphic face, @DISEASE$, @PHENOTYPICFEATURE$, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.	false
+dfe5e4e93f8a9d0e9612307e2525132c4947e926	He had a dismorphic face, micrognathia, @PHENOTYPICFEATURE$, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the @DISEASE$.	false
+00db7830c74fcb1ce5d099385b1163694e88c3b2	He had a dismorphic face, micrognathia, @PHENOTYPICFEATURE$, and heart anomalies similar to @DISEASE$, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome.	false
+eb0da49d58769061fc4d714b9900b75e3db2f99d	Moreover, the SNA of keywords highlighted new research topics: meta-analysis, cone beam computed tomography, tooth agenesis, case-control study, association study, @PHENOTYPICFEATURE$, @DISEASE$, NSCL/P, UCLP, GWAS, MTHFR, and CLPTM1L.	has_symptom
+046d18dc6a013021ebd6a11594fa1e2c56d4f765	Two originally prepubertal girls suffering from @DISEASE$ and @PHENOTYPICFEATURE$ were treated with low-dose diazoxide (3-4.8 mg/kg per day) for 7 and 4 years, respectively.	has_symptom
+75a5263843e73dc6e50887874575d65003e84635	Late presentation of @DISEASE$ and III in children with @PHENOTYPICFEATURE$ and hepatomegaly.	has_symptom
+af163277002a160c39d3b6ea4a21b0ae51cceb91	@DISEASE$ (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tremor, @PHENOTYPICFEATURE$, and neuropsychiatric syndromes.	has_symptom
+4c6d8af9f39f7f690abdc20b2d7c57844d6b0f3d	Testicular yolk sac @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+67eb776efa23dcac90481ce7ffaf5a192c1e53f7	As with other overgrowth syndromes, @DISEASE$ can be associated with an increased risk of @PHENOTYPICFEATURE$.	has_symptom
+87ca8e94191c7f47e627115c9ffbafec81f15c69	As with other @PHENOTYPICFEATURE$ syndromes, Sotos syndrome can be associated with an increased risk of @DISEASE$.	false
+35837d728932d8ef28e8b02abb6dd6444374804e	As with other @PHENOTYPICFEATURE$ syndromes, @DISEASE$ can be associated with an increased risk of tumors.	false
+ddd447039c3568a98ed2375a3571f2c4f795be15	Overgrowth syndromes such as Beckwith-Wiedemann syndrome, @DISEASE$, and Weaver syndrome have an increased risk of @PHENOTYPICFEATURE$.	has_symptom
+7764a970c8a573d46568a46d0faa6f5e4ad3156e	@DISEASE$ is included among the overgrowth disorders, most of which have an increased risk of @PHENOTYPICFEATURE$.	has_symptom
+9a402c766ab209c816541bae99af52475f459623	Sotos syndrome is included among the @PHENOTYPICFEATURE$ disorders, most of which have an increased risk of @DISEASE$.	false
+23ebc3a1f2639c3d04ec14b5acfba8e90132d24b	@DISEASE$ is included among the @PHENOTYPICFEATURE$ disorders, most of which have an increased risk of neoplasms.	false
+ab080f426a3adade32f3112151598bf603f7f04a	Beckwith-Wiedemann syndrome and @DISEASE$ are the most common overgrowth conditions, and both carry increased risks of certain @PHENOTYPICFEATURE$.	has_symptom
+3d7968ee4abe55562ab2500d7f8e473313d0646b	@PHENOTYPICFEATURE$ and nontumors in @DISEASE$.	has_symptom
+118cbc53b739a98a97c5b3163f9d3c3c1f33d312	@DISEASE$, a disorder with macrocephaly, mental delay, and facial anomalies, has been noted to have an increased risk of @PHENOTYPICFEATURE$.	has_symptom
+daf738ff07350d5632635e46b5bd283f2b9e3a7b	Sotos syndrome, a disorder with @PHENOTYPICFEATURE$, mental delay, and @DISEASE$ anomalies, has been noted to have an increased risk of neoplasia.	false
+ba18962e6d915747f11ea27e8fa9ff61a1bc7984	@DISEASE$, a disorder with @PHENOTYPICFEATURE$, mental delay, and facial anomalies, has been noted to have an increased risk of neoplasia.	false
+f1d4168975d13fe97b55e006bdc9a502d661d804	Sotos syndrome, a disorder with @PHENOTYPICFEATURE$, mental delay, and facial anomalies, has been noted to have an increased risk of @DISEASE$.	false
+c31670ebd93a2253cf656a606d4eaef065097b25	Blood samples from patients with @DISEASE$ and?NSD1-mutant @PHENOTYPICFEATURE$ also exhibit hypomethylation of intergenic DNA.	has_symptom
+92f7a8a38fd9712198b79aa240dcaa59bcaf2a4a	Other @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8bc2b6b22fb0bae4e809a701c3cf61fefff82289	Of significance is the possible role of mutations at 3p21 in the aetiology of @DISEASE$ and @PHENOTYPICFEATURE$ development.	has_symptom
+cfd99dbdfaec241bef385baf19c6a38220554ce7	@DISEASE$ (KDS), first described in 1973, is a rare condition characterised by the triad of dysmorphic features, myopathy, and @PHENOTYPICFEATURE$ susceptibility (MHS).	has_symptom
+dde590d27492911604c073cc7d6493fddae993ab	The spectrum of RYR1 mutation associated disease encompasses congenital myopathies, exercise induced rhabdomyolysis, @PHENOTYPICFEATURE$ susceptibility and @DISEASE$.	has_symptom
+d47bd62f5061e8de203bd9e57992aefcb1f8dae2	The @DISEASE$ (KDS) is characterized by dysmorphic features, myopathy, and @PHENOTYPICFEATURE$ (MH).	has_symptom
+5ec368ee4d656cf39275a0c7bc69a00940d49a18	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	has_symptom
+9b0bf07dc048de966219878b40dfdfde4d4fd3dc	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	has_symptom
+449ebb25773b4ef5a076680c4ffaad89ba69a522	All five patients displayed the classical features of @DISEASE$ (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+1a905cb8178c6edbca48ce539b364b1526c5749d	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+c8dff00569a62fdadb1d390b2c43a8053fbdf6c4	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @DISEASE$, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+846edda28d9da60b9770c35f4943f8ad55a0938e	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, microcephaly, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+9eb88672def2d9e19c13588daf2818695421e04e	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @DISEASE$, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+b4d5e982a15c75c58e0dbaf47b26db7b915e0e4f	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+29ced8afaec2f46fb02b16215e43088602f80795	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, @DISEASE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+0aa417e6ea79f4ae6cdf2d39d2b4fbf52d19bc15	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+506cc1326bda8627f6a656a0ed22a6fec6a00c9b	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+220410c49518a25e7b6501f73fc1eae43a04ce6a	The two brothers present @PHENOTYPICFEATURE$, light mental retardation, learning and language difficulties but not the typical phenotype manifestations described in @DISEASE$.	has_symptom
+40b2c5e91869955258fd87f490f2946c0677ee14	The two brothers present @DISEASE$, light @PHENOTYPICFEATURE$, learning and language difficulties but not the typical phenotype manifestations described in 3p- syndrome.	false
+144725f7caf73741606733c158ec9fbd8c1914e8	The two brothers present microcephaly, light @PHENOTYPICFEATURE$, learning and language difficulties but not the typical phenotype manifestations described in @DISEASE$.	false
+681ecd599eb0edde0cfb8c67a8fa796199ab8989	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	has_symptom
+a6b9f3f4263dae1e5165153ce73f5518b9b202b8	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+cfba58f49e2eab3a305248d193f73244959a7c96	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, @PHENOTYPICFEATURE$, @DISEASE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+f4e7bdf14e3e8e89f61abf0292e8c0b9b518e3ba	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, @DISEASE$ with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+bb19742dde04e797a813ce945a9fd65a3f70bc6e	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, @DISEASE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+3bb6772218898dc1ce941503831e4a1d0a342b71	The former patient showed characteristic clinical manifestations of the @DISEASE$, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+00ef7ed2ea66a20eea504aa013070dc9e024ac7a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+fda8794b67851e8463312ffa287a1da24120f864	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including @PHENOTYPICFEATURE$, mental retardation, @DISEASE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+ac362b69d28007597513e728845ae08e86ddb0dd	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+43aeea0ad70f08951f978be4fa41d2848a22a173	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, @DISEASE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	false
+2f5a417f46f28e729f002154c3831613db4a479a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	false
+0ab1b5eb83588789e5f6bc394071b60404802788	@DISEASE$ (CS; MIM 218040) is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias.	has_symptom
+f736aab5733b18ca10b6bb95860b55c85a981720	Costello syndrome (CS; MIM 218040) is characterized by @DISEASE$, @PHENOTYPICFEATURE$, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias.	false
+594beaf7d91a8a2d3fcdb20358195d4517e7f597	Costello syndrome (CS; MIM 218040) is characterized by short stature, @PHENOTYPICFEATURE$, cardiac defects and predisposition to @DISEASE$ (CS/ERMS) and other neoplasias.	false
+f47336301c9241bf0c75ab973a82225e6c664f7d	@DISEASE$ (CS; MIM 218040) is characterized by short stature, @PHENOTYPICFEATURE$, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias.	false
+932384b37b6e7358c0985259156379e85ae87f34	We describe a 34-year-old woman with mental retardation, @PHENOTYPICFEATURE$, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident @DISEASE$.	has_symptom
+c0853f8741aea1023c395b7a172d67f268deda86	We describe a 34-year-old woman with mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome.	false
+394b0ffb175c55c6f1bc2f409b78db09d192b5eb	We describe a 34-year-old woman with @PHENOTYPICFEATURE$, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident @DISEASE$.	false
+0632d61365dd3dc5c5868e3604cc13f7ad2e203f	We describe a 34-year-old woman with mental retardation, short stature, @PHENOTYPICFEATURE$, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident @DISEASE$.	false
+cbd9aff3c1c0015fe00c22a0596e81f08f5c1c0d	We describe a 34-year-old woman with @PHENOTYPICFEATURE$, @DISEASE$, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome.	false
+a7eb934179fa3915f6688312d203799c14754d57	@DISEASE$ is characterized by facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), @PHENOTYPICFEATURE$, mental retardation and sociable personality.	has_symptom
+5048bf2c147cc530db7ff62a2fa7b37da06dad73	Costello syndrome is characterized by facial dysmorphia, hyperpigmented skin, palmar and @PHENOTYPICFEATURE$, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), @DISEASE$, mental retardation and sociable personality.	false
+355000c36407f9a1503398fa1e1af4dcf6427cf2	@DISEASE$ is characterized by facial dysmorphia, hyperpigmented skin, palmar and @PHENOTYPICFEATURE$, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, mental retardation and sociable personality.	false
+6d88e40e00e995415770d423a0285737eab12f4b	Costello syndrome is characterized by facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), @DISEASE$, @PHENOTYPICFEATURE$ and sociable personality.	false
+83bd0c749a1a485c486806c24f579e91ee30e064	@DISEASE$ is characterized by facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, @PHENOTYPICFEATURE$ and sociable personality.	false
+ac2f97adfb58c8989bec55fa85425ccac26dbb4f	Costello syndrome is characterized by @PHENOTYPICFEATURE$, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), @DISEASE$, mental retardation and sociable personality.	false
+1c1e146347d51649c602965bd7c0552288241866	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, mental retardation and sociable personality.	false
+e920d01f095f1043b45a30f614560212d4ad6fc6	Individuals with @DISEASE$ usually present with severe feeding difficulties in infancy, @PHENOTYPICFEATURE$, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications.	has_symptom
+91316f0796ebfecb8c7328b3c089d2b8e76295ee	Individuals with @DISEASE$ usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased @PHENOTYPICFEATURE$ risks, cardiac and neurological complications, intellectual disability and orthopedic complications.	false
+a3ee338e6e09fca383a10b67f4cdf7e84004af4c	Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, @DISEASE$, coarse facial features, increased @PHENOTYPICFEATURE$ risks, cardiac and neurological complications, intellectual disability and orthopedic complications.	false
+816355adc26b7fe032cf2f2a489858d629ade67a	Individuals with @DISEASE$ usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, @PHENOTYPICFEATURE$ and orthopedic complications.	false
+229a28780e00c3cd61e0f3551f819d1d22b2ac1b	Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, @DISEASE$, coarse facial features, increased tumor risks, cardiac and neurological complications, @PHENOTYPICFEATURE$ and orthopedic complications.	false
+77e7262bb31af858065998452757aa88979a6637	@DISEASE$ is a rare syndrome characterized by failure to thrive, @PHENOTYPICFEATURE$, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	has_symptom
+5986eb778560e5da6eda2aa6abdb80efe6fdbc6d	Costello syndrome is a rare syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and @DISEASE$.	false
+0418f9bee322c5af90ad17f2514b742067c149c3	Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and @DISEASE$.	false
+f65f9d450a75f67fd3a7542e5d34751c6a0b7347	Costello syndrome is a rare syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+9bac9975fa750948cb5666e49590c3c0a46b1feb	Costello syndrome is a rare syndrome characterized by failure to thrive, @DISEASE$, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+51f938f55863321e71ac7049fddd1b43576cd008	Costello syndrome is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+f87b7f24e690a96e29a4e01a7c2c3578cf7b8bcb	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+0cf84af53f789093f9f761c991ede4bf5feb76db	@DISEASE$ is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+e23ed7b5af45b7214c8864726d7a4711d3f08ab4	Costello syndrome is a @DISEASE$ syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+58fb23869f347c1c0f0a7eae2939903f29ee5fdf	Costello syndrome is a rare @DISEASE$ characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+ff033b9ae2bce4801b0b0379b701fc8cc80850b0	Costello syndrome is a @DISEASE$ syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+fcac8e8b776bc875ff4166c0edf188cc7ab00859	@DISEASE$ is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, @PHENOTYPICFEATURE$, developmental delay, and mental retardation.	has_symptom
+8e3ea30b87d3f6f8ffe83aabc4461e7b91072666	Costello syndrome is a multiple @DISEASE$ syndrome consisting of dysmorphic facies, cutis laxa, short stature, developmental delay, and @PHENOTYPICFEATURE$.	false
+c7a07363d46c7a2ee5cbc0fd2deabcaa05438f46	Costello syndrome is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+3b63995bee2769a321bfce688a9ccfc1a9136be9	Costello syndrome is a multiple congenital anomaly @DISEASE$ consisting of dysmorphic facies, cutis laxa, short stature, developmental delay, and @PHENOTYPICFEATURE$.	false
+92c22bfae763e2173f4821d36b774c3b41a61c75	@DISEASE$ is a multiple congenital anomaly syndrome consisting of dysmorphic facies, cutis laxa, short stature, developmental delay, and @PHENOTYPICFEATURE$.	false
+390b54b439f686692de47f9f40d0b5ba9f856fbf	@DISEASE$ (CS) is a rare RASopathy causing developmental delays, @PHENOTYPICFEATURE$ and classically, delayed puberty.	has_symptom
+a6517a9fe8b59bd65700f4f3b2589ef4cb8da329	@DISEASE$ is a rare genetic condition characterized by coarse facies, @PHENOTYPICFEATURE$, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive.	has_symptom
+d19aa64d1f26a4e510b800e0128e567c1901861d	@DISEASE$ is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and @PHENOTYPICFEATURE$.	false
+83feaae7b6fb14dd064ebcdd8835634fff1bec57	Costello syndrome is a rare genetic condition characterized by coarse facies, @DISEASE$, loose folds of skin especially on hands and feet, severe feeding difficulties and @PHENOTYPICFEATURE$.	false
+c2a4908f602fa2125fddbc3d3f8b5b2862eb03b9	Growth hormone deficiency in @DISEASE$: a possible explanation for the @PHENOTYPICFEATURE$.	has_symptom
+62406779ee81505f85516cd088af1a5a28456d4f	@DISEASE$ (CS) was described in 1977 by Costello who reported two unrelated children with a new syndrome comprising @PHENOTYPICFEATURE$, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and mental retardation.	has_symptom
+1237881636af95817b887588913e854fec28ace4	@DISEASE$ (CS) was described in 1977 by Costello who reported two unrelated children with a new syndrome comprising short stature, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and @PHENOTYPICFEATURE$.	false
+9bbbe7f322e872d998988549bb52d8020740bdaa	Costello syndrome (CS) was described in 1977 by Costello who reported two unrelated children with a new syndrome comprising @DISEASE$, redundant skin of the neck, palms, soles, and fingers, curly hair, papillomata around the mouth and nares, and @PHENOTYPICFEATURE$.	false
+43a1fccd0fc07abd8b6b937c076b9aa81d16d413	The definitive etiologies for central anemia were: congenital syphilis, neonatal @PHENOTYPICFEATURE$, type II @DISEASE$ (CDA), and neonatal hemochromatosis.	has_symptom
+28a0ee9f7c4065656d2e8da8f2292ddb2157a1bd	The authors describe peculiar @PHENOTYPICFEATURE$ with brown-white @DISEASE$ anterior surface, which had grown bilaterally from the corpora nigra (C.N.) of an adult horse and occluded the pupils.	has_symptom
+d6a009e8d3e976599da3d159ec3708e68bd3ee02	Comparison of the @PHENOTYPICFEATURE$ produced by 2-acetyl-amino-fluorene in @DISEASE$ and Wistar rats.	has_symptom
+101f641558a0535587149d730b4cb106581a9531	The @DISEASE$ (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with @PHENOTYPICFEATURE$ scaly skin lesions, keratitis and severe bilateral sensorineural deafness.	has_symptom
+779ddf38dc431ad013d7fc9debd301509a8fdebd	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, @PHENOTYPICFEATURE$, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	has_symptom
+63318b8b6ddfb1f311f909c08e0a1d7cdb66e0bd	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, @DISEASE$, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases @PHENOTYPICFEATURE$.	false
+f129984e2c97bdef554f576718899ffad8820c69	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, @PHENOTYPICFEATURE$, scoliosis, kyphosis, imperforate anus, umbilical hernia, @DISEASE$ and in a few cases mental retardation.	false
+8105a384aef714ab1c2761f6c5a6db7d994be7b3	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, @PHENOTYPICFEATURE$, @DISEASE$, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+1c0a1bc2f938d1123725f8768a89d97e18293c36	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases @PHENOTYPICFEATURE$, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+d566b6ee580361d03e55133a8c67372379c71d09	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases @PHENOTYPICFEATURE$, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, @DISEASE$ and in a few cases mental retardation.	false
+4b428975a46898cddf8036ce4ff11cc614442d62	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases @PHENOTYPICFEATURE$, abnormal external ears, @DISEASE$, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+0ef4d0690c8d4959cb64f5762b35a3d42e1373b8	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases @PHENOTYPICFEATURE$, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, @DISEASE$, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+d8ee263c091dde0107f8e710c1f503f30f4cd95a	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, @PHENOTYPICFEATURE$, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+b3bc7260a3cad67e8507a008af16522ce3150ef7	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, @DISEASE$ and in a few cases @PHENOTYPICFEATURE$.	false
+e31696c14cb8afe4ed161b1532074379510a2a41	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, @DISEASE$, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases @PHENOTYPICFEATURE$.	false
+a6a54274df1a3f23645d6b5f40948c1c3e2d429a	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases @PHENOTYPICFEATURE$.	false
+d2a20f159bdaaae509003af46c3830b4957b27d6	The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, @DISEASE$, arachnodactyly, @PHENOTYPICFEATURE$, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+d84a8c7e1313461ca4598f5c072dd9f52f92d870	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without @PHENOTYPICFEATURE$, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	has_symptom
+6de3efed39aa8e64a64c4646f9301c2c9dc6bc9c	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without @PHENOTYPICFEATURE$ and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+b66b88e697cde9161245cd80daf4ea8e6bdfc91a	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without @DISEASE$, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, @PHENOTYPICFEATURE$, normal karyotype.	false
+4a350c88b89885252677c5c90b24904dd5366039	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral @PHENOTYPICFEATURE$, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+82cb3c11bd270f4a61af5bcd9a2bff8b5acbfb9a	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, @PHENOTYPICFEATURE$, normal karyotype.	false
+775dd27633c8706ddee0caad2663035d950d21ae	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative @PHENOTYPICFEATURE$, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+90f366a4c2dec48306fc3a4fe05c405e4fccf1b6	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral @PHENOTYPICFEATURE$ with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+6bab361962ea88f0dc41e3c71a3fcf9cca367fed	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without @PHENOTYPICFEATURE$ and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without @DISEASE$, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+d7e64add5956e56c43ae5eadf33a178b56c4eff0	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral @PHENOTYPICFEATURE$ with asymmetry of the lid-openings without @DISEASE$, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+8ac990fa246a9b0da0d5e62559f157def8a929e3	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral @PHENOTYPICFEATURE$, bilateral epicanthus with asymmetry of the lid-openings without @DISEASE$, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+0b04391a4dcdcb4bd6b606f9ca36bd4d6e3d4912	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of Rieger's anomaly are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without @DISEASE$, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative @PHENOTYPICFEATURE$, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+c18a107b8a5abb8ee9171a31c52d1a1aa36c6a25	[Genetic analysis of a child with @DISEASE$ mainly featuring @PHENOTYPICFEATURE$].	has_symptom
+161493bba5dc41c7ec9a22a042e5745c2c8f25de	A new 48, XXYY/@DISEASE$ associated with multiple skeletal abnormalities, congenital heart disease and @PHENOTYPICFEATURE$.	has_symptom
+0f2a5195ef9536416993ae97028d559070d78792	A new 48, XXYY/@DISEASE$ associated with multiple @PHENOTYPICFEATURE$, congenital heart disease and mental retardation.	false
+c3801e0397b570f22b05efa60d294215849d6a26	A new 48, XXYY/47, XYY syndrome associated with multiple @PHENOTYPICFEATURE$, congenital heart disease and @DISEASE$.	false
+2ec01217e3db01e07faf46fecc0bd6cf5a6d756d	A new 48, XXYY/47, XYY syndrome associated with multiple @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+08acc1510fd245a6168f5dee1ad08b804764c215	Psychopathy, @PHENOTYPICFEATURE$, aggressiveness and the @DISEASE$.	has_symptom
+b185346aad3b2283e45b44cc350f34dee6907014	The @DISEASE$ in a boy with behavior problems and @PHENOTYPICFEATURE$.	has_symptom
+27c7a822a579cd8c89bdba97de6a7a4e76f91949	@DISEASE$--Wilms' @PHENOTYPICFEATURE$.	has_symptom
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	has_symptom
+c2c5488baf5ece72b5878cfffab48aa4441f58bb	@DISEASE$ (WT) or nephroblastoma is the most common @PHENOTYPICFEATURE$ of renal origin found in children.	has_symptom
+eebab7eea8b1c683f20ed2658b5f16a685cc25e9	Wilms tumor (WT) or @DISEASE$ is the most common @PHENOTYPICFEATURE$ of renal origin found in children.	has_symptom
+55bfb3cb0e10b47a0ec785cbf671f5ecc094058f	@DISEASE$ is the most frequent of these @PHENOTYPICFEATURE$.	has_symptom
+0cda192eaf1b5f93d08cfff779ae1695e2110ad3	@DISEASE$ (nephroblastoma) is a readily diagnosed common abdominal @PHENOTYPICFEATURE$ in children.	has_symptom
+552908df703a7d6bc9af10387b524fc882583c3e	Wilms tumor (@DISEASE$) is a readily diagnosed common abdominal @PHENOTYPICFEATURE$ in children.	has_symptom
+41dafd9f3b7195b9215356f1ea2f15d5b88847c3	@DISEASE$ is the commonest renal @PHENOTYPICFEATURE$ seen in children.	has_symptom
+7dbd26c38ebfcf8843882125edb9b733beca699e	@DISEASE$:  Wilms's @PHENOTYPICFEATURE$.	has_symptom
+73e0b256947849babbcfcf59dfc0e1f39954fa53	@DISEASE$ or Wilms' @PHENOTYPICFEATURE$.	has_symptom
+21b1548e40e9417ae9306c5ebae01b179ab50347	With light and electron microscopy, the nodular @PHENOTYPICFEATURE$ was similar to @DISEASE$ (nephroblastoma).	has_symptom
+463ff1cfb3c2ac49fdf54f51b8b30fd2e39a328c	With light and electron microscopy, the nodular @PHENOTYPICFEATURE$ was similar to Wilms' tumor (@DISEASE$).	has_symptom
+1bac1a541841aac1d6c5366783003669dd3f7eac	Wilms tumor (@DISEASE$) is one of the most common solid @PHENOTYPICFEATURE$ of childhood.	has_symptom
+7e9af4d26af0c81ad03038f53aaf32d60f51de8b	@DISEASE$ (nephroblastoma) is one of the most common solid @PHENOTYPICFEATURE$ of childhood.	has_symptom
+7d2c6c21c72f359a79626bcf2d86e6ec82c7bf85	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	has_symptom
+e9a92a24550bb19a594b52356f24e251fcb0945d	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+90985062e2b8b4f786b6d17bc7b7d5a997b34bf9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+9873632e398abd141322a322f251fe7c25c06855	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+a33512a464802dfbb3a6e804bfb09e9eab74e045	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+e3118126acde0778dd8b54b87e3aa92116eac1c9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+5686861441e84ac798059cea0dde7909bfb49692	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, @DISEASE$ in infancy and alkalosis syndrome.	false
+732ba4bf23ec1247f586877095d5941a24bce7cc	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis @DISEASE$.	false
+ce1065eb6c5442bcfd6322ac1bdd652c1d29ab30	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+e0553afa5d1c173ac34d61068c28d063fa2d0f98	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, @DISEASE$ in infancy and alkalosis syndrome.	false
+a65f2f69e3497b438fabd5b16c0ca503813be779	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+0270da8d26f87c3b01666f5320ac64a2febb1110	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+71088bba0c222fc4b31c02061a84bd323997420b	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+07ccc7610ef29d0e459a2395435aba0a7c2034a5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+e1391b51294d7a7e7bd2b57642e023ab7b268e32	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @DISEASE$ in infancy and alkalosis syndrome.	false
+d02edd3eee07057cbc2695eb16fefc06f5f69d3e	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis @DISEASE$.	false
+778d128757c23d22131f2ae087c1d36633d36873	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+d406f75a5b9f4a2bfc5455e82b3e6d69eed6bdcc	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+aea26d0fcaa56844fe68313b5ccd9501bdbc419c	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis @DISEASE$.	false
+141637e4ced113f0b3b8f2d504a6c3a250a677a2	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+5e24c1a997d5ff4cf52ae953ba7d669fd8a4fdd5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+02e0ab884b2db84b78b165517c72848d19039956	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+951ab54975a24c32d60041c1b0a7533b700dd7d5	@DISEASE$: a newly recognized phenotype associated with @PHENOTYPICFEATURE$, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.	has_symptom
+a7a6c6da240dafa94b209caa33c81a77b3b9cdf2	@DISEASE$: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, @PHENOTYPICFEATURE$ and increased dosage of distal chromosome 15q.	false
+509917fd609ce53d568ab39d573588567a36824f	15q overgrowth syndrome: a newly recognized phenotype associated with @DISEASE$, learning difficulties, characteristic facial appearance, @PHENOTYPICFEATURE$ and increased dosage of distal chromosome 15q.	false
+61bd3da26cd5f41040a2aad50fd90a5c3e1d132f	Management of multifocal, @PHENOTYPICFEATURE$ @DISEASE$ with open partial nephrectomy after neoadjuvant chemotherapy is an important part of protocol management for patients with Wilms tumor with predisposition syndromes.	false
+8cec4daf3103e26169874be445cbf24a0f06395a	Management of multifocal, @PHENOTYPICFEATURE$ Wilms tumor with open partial nephrectomy after neoadjuvant chemotherapy is an important part of protocol management for patients with @DISEASE$ with predisposition syndromes.	false
+b2cfe0fb533fbaa38776281ba04b74f815687431	Fetal rhabdomyomatous nephroblastoma (FRN) is a rare variant of @PHENOTYPICFEATURE$ with distinct morphologic features and biologic behavior compared to conventional @DISEASE$.	has_symptom
+651d04cdad9f0ce2f5dc93b186b12a626ebbd378	Fetal rhabdomyomatous @PHENOTYPICFEATURE$ (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional @DISEASE$.	has_symptom
+dde04e28c3a6a6f941303587d562403b8bc27336	Fetal @PHENOTYPICFEATURE$ @DISEASE$ (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional nephroblastoma.	false
+e93fdf0477a13aeb16635740f5a3d3f473eb0622	Fetal @PHENOTYPICFEATURE$ nephroblastoma (FRN) is a rare variant of @DISEASE$ with distinct morphologic features and biologic behavior compared to conventional nephroblastoma.	false
+67d2bd4a891e3311868af6b1fcf592c38c202c3b	Fetal @PHENOTYPICFEATURE$ nephroblastoma (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional @DISEASE$.	false
+a9406ad7718075202d82049bf1fa5c2554f7c748	@DISEASE$ @PHENOTYPICFEATURE$ nephroblastoma (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional nephroblastoma.	false
+a68cb145891b9fa5ed9e58869efdf030d90584b8	@DISEASE$ (TPS) is a rare autosomal syndrome characterised by the inability to open the mouth fully, pseudocamptodactyly, @PHENOTYPICFEATURE$ and foot deformities.	has_symptom
+807717521119057d39a751ec8ffbd3c5738893f4	@DISEASE$ (TPS) is a rare autosomal syndrome characterised by the inability to open the mouth fully, pseudocamptodactyly, short stature and @PHENOTYPICFEATURE$.	false
+4335fbac8ce787d5213277e81955df1f1e70cd97	Trismus-Pseudocamptodactyly Syndrome (TPS) is a rare autosomal @DISEASE$ characterised by the inability to open the mouth fully, pseudocamptodactyly, short stature and @PHENOTYPICFEATURE$.	false
+83797e8985b91b5e564dff10ce6d07e72d782c04	Trismus-Pseudocamptodactyly Syndrome (TPS) is a rare autosomal syndrome characterised by the inability to open the mouth fully, pseudocamptodactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+279d9caf137736a5bea6b88592bd53f60398beea	@DISEASE$ (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, @PHENOTYPICFEATURE$, amenorrhea, and secondary skeletal abnormalities mimicking a metaphyseal chondrodysplasia.	has_symptom
+17850117e9e483b42c4c499870439a03768ed42a	Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, @DISEASE$, amenorrhea, and secondary @PHENOTYPICFEATURE$ mimicking a metaphyseal chondrodysplasia.	false
+5f19c7f884b220dc57c8c0db3b57146abc892b29	Satoyoshi syndrome (SS) (OMIM 600705) is a rare @DISEASE$ of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary @PHENOTYPICFEATURE$ mimicking a metaphyseal chondrodysplasia.	false
+2cf0b4211a7c0598c93e0547cc6b20a3ad8cc427	Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary @PHENOTYPICFEATURE$ mimicking a @DISEASE$.	false
+3b064fce53ebb0e67e059e82532cf671a078b86f	@DISEASE$ (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary @PHENOTYPICFEATURE$ mimicking a metaphyseal chondrodysplasia.	false
+341d5fd29a914593c6d9d8e17748036053dd2bdf	Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, @DISEASE$, short stature, amenorrhea, and secondary @PHENOTYPICFEATURE$ mimicking a metaphyseal chondrodysplasia.	false
+eb49bfa1da8a28012e4c7cb12a41a06f660514c0	We present the clinical and biochemical features of a boy with @DISEASE$, which seem to underline a disease entity of developmental retardation, epilepsy and muscular @PHENOTYPICFEATURE$.	has_symptom
+4e9e9d7ec65562b9fada51b1b1206e697fd35de9	Yet, there are now 14 reported cases of @DISEASE$ in which serum albumin is absent or greatly reduced without clinical evidence of @PHENOTYPICFEATURE$, decreased hormone levels or abnormal amino acid requirements.	has_symptom
+7c5795093ffaef6503946bb7c8701769a1256a08	The prime anesthetic problem reported in children with @DISEASE$ is difficulty with tracheal intubation, resulting in part from relative @PHENOTYPICFEATURE$, short neck, and an anterior and cephalad position of the larynx.	has_symptom
+a9dadbc82a99a821c85021655fd1f69589cbdde7	Fryns @DISEASE$ is a rare syndrome with clinical diversity primarily including @PHENOTYPICFEATURE$/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities.	has_symptom
+6f6842aa0e3961b27e5810040b04b8838277efc2	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including @DISEASE$/@PHENOTYPICFEATURE$, facial clefts, cleft lip/palate, ear and nasal deformities.	false
+369f7bcbd6f8e3381d99567f731ec19d4a2745b3	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/@PHENOTYPICFEATURE$, facial clefts, @DISEASE$, ear and nasal deformities.	false
+0744625d82ddb14a3244a61dd64caea4a23918ab	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/@PHENOTYPICFEATURE$, @DISEASE$, cleft lip/palate, ear and nasal deformities.	false
+9c02ad9d7bf9365f9d55c27f709aa2a5b1c7da27	Fryns @DISEASE$ is a rare syndrome with clinical diversity primarily including anophthalmia/@PHENOTYPICFEATURE$, facial clefts, cleft lip/palate, ear and nasal deformities.	false
+5d3062c8df0f6639ce4bfcb6301e37c53d7acaf4	Selective aspects of @DISEASE$ not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with @PHENOTYPICFEATURE$ and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	has_symptom
+412d5c921c1354b142d139111308401656d9b72a	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; @DISEASE$; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+aa45b5261564de66eb940588d607fdb3f905f2c1	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with @DISEASE$ and severe @PHENOTYPICFEATURE$; and types of abnormal growth in the craniofacial skeleton.	false
+5290357c88fdaca1b02632c719117a6dd005d2f6	Selective aspects of @DISEASE$ not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+9b3ed6943e62f7fd3b6804273878a03fb67cbdfe	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; @DISEASE$ phenotype associated with seizures and severe @PHENOTYPICFEATURE$; and types of abnormal growth in the craniofacial skeleton.	false
+5bd778c766fd23333a2a8c168749a44be0928fcb	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; @DISEASE$; facial phenotype associated with seizures and severe @PHENOTYPICFEATURE$; and types of abnormal growth in the craniofacial skeleton.	false
+410881d880f5d8ee1d5392f06f19295c78f0e746	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; brain malformations; @DISEASE$ phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+292b3c0e9940ccf7bb5107a7de0faefca2cfeb28	Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon @PHENOTYPICFEATURE$; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with @DISEASE$ and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton.	false
+b9df4a46b03302abdac0e1204e2083f8edb912aa	Selective aspects of @DISEASE$ not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe @PHENOTYPICFEATURE$; and types of abnormal growth in the craniofacial skeleton.	false
+32ccab7de17071324a0eae59fd05af602ac32601	Ictal SPECT with MRI fusion localizing a @PHENOTYPICFEATURE$ focus in child with hemimegalencephaly and @DISEASE$.	has_symptom
+f2afaa5d3320889ca52c6303393035f924cd2593	Partial monosomy of the short arm of chromosome 18 (@DISEASE$) is characterized mainly by speech delay, mild to moderate mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+4dc1472760df84c3e06ee3e29f8fcd92e86143f6	Partial monosomy of the short arm of chromosome 18 (@DISEASE$) is characterized mainly by @PHENOTYPICFEATURE$, mild to moderate mental retardation and short stature.	false
+1de96443d7dcc49f01e919d5c37c26e4af0d0f96	Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by @PHENOTYPICFEATURE$, mild to moderate mental retardation and @DISEASE$.	false
+abc1a6557ff44c3429b70ebbd6a85c958c9958a2	Mental retardation, @PHENOTYPICFEATURE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	has_symptom
+409ca7b2932b7c0005a247430dc73beb21f114c2	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+a778ff6005b1438474600479190466e3d26e44f0	Mental retardation, short stature, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+013031deb049f2de2a711474ea81509a700447e9	Mental retardation, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+0b507f7f2e6318ac98c5a2d71d03e75c4e84c2c4	Mental retardation, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+213d9db3557aa060c9a1c4cbf8e9c5b56a6c3d1d	Mental retardation, @DISEASE$, microcephaly, hypertelorism, epicanthus, @PHENOTYPICFEATURE$, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+59b6bd926717da282d6688f55575233cba435216	Mental retardation, short stature, microcephaly, @PHENOTYPICFEATURE$, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+fad9146967cbf13d8eabe0cb81180bf1064a3a36	@PHENOTYPICFEATURE$, @DISEASE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+56189d5b1e96bd3a97f79768f5bd5af9338a4a91	Mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+acdc73b284c9163073dc3c77bd78f6da6c88b674	Mental retardation, @DISEASE$, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, @PHENOTYPICFEATURE$ and low birth wieght establish a clinical diagnosis of the 18p-syndrome in many instances even before the result of chromosomal analyis is known.	false
+8ec5fc64f3a6741f61b65c154c59d23b42d981db	@PHENOTYPICFEATURE$, short stature, microcephaly, hypertelorism, epicanthus, ptosis, short, broadbased nose, carp mouth, abnormalities of teeth, microretrognathy, big, protruding and low set ears, short neck, pterygium colli, broad chest, incurved fifth fingers, muscular hypotonia and low birth wieght establish a clinical diagnosis of the @DISEASE$ in many instances even before the result of chromosomal analyis is known.	false
+ad05bf15ecf069be56fa1c57db289e4b8b0f6e5c	@PHENOTYPICFEATURE$ and nephrocalcinosis, a feature of @DISEASE$.	has_symptom
+7ad2df71d213c85bd848f4b36a003318a979b924	@PHENOTYPICFEATURE$ and nephrolithiasis as a presenting sign in @DISEASE$.	has_symptom
+d49b9a05ec1f054af73a83dbe01b7fe6140f2ef3	@PHENOTYPICFEATURE$ and nephrolithiasis in @DISEASE$.	has_symptom
+30e85081949b2109586fd6e7c9152f00c4f8caac	The involvement of the central nervous system in case of @DISEASE$ (WG) is infrequent and usually leads to cranial nerve abnormalities, cerebrovascular events, and @PHENOTYPICFEATURE$.	has_symptom
+21356bd4a9757e3ed1b884ba53874ec736ea0efb	Daily repeated @PHENOTYPICFEATURE$ induced further modifications of phosphorylation of these proteins in only hippocampus of AGPAS rats as compared with @DISEASE$ ones.	has_symptom
+4c6b8d62cde3d7ae8d71b08720380a29915742ee	Three groups of rats were used: (1) normal male Wistar rats (control), (2) a strain of rats genetically-prone to audiogenic @PHENOTYPICFEATURE$ (@DISEASE$) and (3) GPAS rats 10 min after a single intense sound stimulus.	has_symptom
+7665b730f594bc623dc1cae68c0eef8c7bdef390	This case reports on a young female patient, previously diagnosed with @DISEASE$, who was admitted to the intensive care unit with @PHENOTYPICFEATURE$ and hemodynamic instability due to a complete atrioventricular heart block.	has_symptom
+ab0794bc97b54577933e6b80a4419656eb64d629	Daily repeated audiogenic @PHENOTYPICFEATURE$ induced the decrease of Ca(2+)-independent CAMKII activity in hippocampus and the increase of PKA activity in neocortex of AGPAS rats in comparison with @DISEASE$ ones.	has_symptom
+ad4882519bc9c09533eba38cb822bf4c866c743b	Similarly, two different human bone development disorders, dominant @PHENOTYPICFEATURE$ B and recessive @DISEASE$, result from mutations in one of the human Ror genes.	has_symptom
+e741e2501181fff2bd7f6dd9e8886e2a79f2af08	The noncanonical Wnt receptor and tyrosine kinase Ror2 has been associated with recessive @DISEASE$ (RRS) and dominant @PHENOTYPICFEATURE$ type B1.	has_symptom
+61c0bfb40acc7fac4523240cde3679ad1724a347	Our studies have provided new insight to @DISEASE$, @PHENOTYPICFEATURE$ Type B1, and spinal bifida which are caused by mutations in human ROR2, WNT5A, or VANGL.	has_symptom
+8c29747e0691a6dea259f049c0dc6c27a7efa2b5	Our studies have provided new insight to @DISEASE$, Brachydactyly Type B1, and @PHENOTYPICFEATURE$ which are caused by mutations in human ROR2, WNT5A, or VANGL.	false
+4e2c62ed19561e88e914b2323e1d78e75b01948e	Our studies have provided new insight to Robinow syndrome, @DISEASE$ Type B1, and @PHENOTYPICFEATURE$ which are caused by mutations in human ROR2, WNT5A, or VANGL.	false
+bfed5015d6d429c538622dcd894c8761b3beb5c6	Mutations in ROR2 cause dominant @PHENOTYPICFEATURE$ type B (BDB1) or recessive @DISEASE$ (RRS), each characterized by a distinct combination of phenotypic features.	has_symptom
+77610fafc73becb9687af8e725a04151a0678bf6	Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie @DISEASE$ and @PHENOTYPICFEATURE$ type B.	has_symptom
+82fc16a55b1cf39b522f6847f6f59a7eeac9f64a	A gradient of ROR2 protein stability and membrane localization confers @PHENOTYPICFEATURE$ type B or @DISEASE$ phenotypes.	has_symptom
+216f38f1562e59b54b0f2bbc2e7ab5b687b44423	The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing @PHENOTYPICFEATURE$, mediating patterning of joints and modeling recessive @DISEASE$.	has_symptom
+e816dc09303336d06311884205455d2c64064a51	Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in @DISEASE$ and in @PHENOTYPICFEATURE$ type 1B (BDB1).	has_symptom
+51a354dab3618e4c42a4486206aad879520282c4	Ror has also been implicated in two human skeletal disorders, @PHENOTYPICFEATURE$ type B and @DISEASE$.	has_symptom
+be3f99d26ff6f81e36609d4650c32575ec50c4e1	In humans, mutations in the ROR2 gene cause two distinct developmental syndromes, recessive @DISEASE$ (RRS; MIM 268310) and dominant @PHENOTYPICFEATURE$ type B1 (BDB1; MIM 113000).	has_symptom
+8a233939bc8f9e1efd3e3986f2266bf8c4e15673	A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and @DISEASE$ @PHENOTYPICFEATURE$ loci.	has_symptom
+321c63be226ef1f3119f4515972b5f3381f2d79a	Despite adequate dietary management, patients with @DISEASE$ continue to have increased risks of @PHENOTYPICFEATURE$, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development.	has_symptom
+fc73a3f980e45fd0b884540b7f37de3d188596b7	@DISEASE$ due to galactose-1-phosphate uridyltransferase (GALT) deficiency is associated with apparent diet-independent complications including @PHENOTYPICFEATURE$, learning problems and speech defects.	has_symptom
+a5819e36b38d4725f81cf2047c1d6fc239b63592	The serum creatinine at presentation (doubling from 1.5 mg/dL; HR, 2.07; p < 0.001) was an independent predictor for renal failure.The combination therapy of plasmapheresis plus corticosteroids and cyclophosphamide had an overall beneficial effect on both patient survival (HR for patient mortality, 0.31; p = 0.001) and renal survival (HR for @PHENOTYPICFEATURE$, 0.60; p = 0.032), particularly patient survival for those with @DISEASE$ (HR for patient mortality, 0.29; p = 0.004) and renal survival for those with anti-GBM nephritis with initial serum creatinine over 6.8 mg/dL (HR for renal failure, 0.52; p = 0.014).	has_symptom
+6b02137e6fe0e87e2240b71950262a543d3fa568	The serum creatinine at presentation (doubling from 1.5 mg/dL; HR, 2.07; p < 0.001) was an independent predictor for renal failure.The combination therapy of plasmapheresis plus corticosteroids and cyclophosphamide had an overall beneficial effect on both patient survival (HR for patient mortality, 0.31; p = 0.001) and renal survival (HR for renal failure, 0.60; p = 0.032), particularly patient survival for those with @DISEASE$ (HR for patient mortality, 0.29; p = 0.004) and renal survival for those with anti-GBM nephritis with initial serum creatinine over 6.8 mg/dL (HR for @PHENOTYPICFEATURE$, 0.52; p = 0.014).	has_symptom
+c551a7129ae484fea2559ce42a5ab7ffcafbaf73	These results establish that: the alpha 3 chain in type IV collagen molecules, the Goodpasture autoantigen, is the target alloantigen in post-transplant anti-GBM nephritis in patients with Alport syndrome, and that a molecular commonality exists in the pathogenesis of anti-GBM nephritis causing loss of renal allografts in patients with Alport syndrome and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+740f876982a0259dfe4c674bbfa6713ede890574	@DISEASE$ with recovery after @PHENOTYPICFEATURE$.	has_symptom
+c087e2a2e385c4780d4b780147bf5242a42ec698	@DISEASE$ is a life-threatening autoimmune kidney and pulmonary disease that is characterized by pulmonary hemorrhage, @PHENOTYPICFEATURE$, and the presence of autoantibodies against glomerular basement membrane (GBM) by indirect fluorescent antibody (IFA) techniques.	has_symptom
+378071f0eaaff1dc0d0cbb8713724b170711b268	@DISEASE$ is a rare autosomal dominant disorder clinically characterized by parkinsonism with depression/apathy, @PHENOTYPICFEATURE$, and central hypoventilation.	has_symptom
+b25f4e248e8bf08dd125410ff4ebc1409aaa2cde	Reduced orexin immunoreactivity has been reported in various neurologic conditions such as narcolepsy, Alzheimer's disease, Lewy body disease and multiple system atrophy (MSA); however, there has been no report investigating orexin in @DISEASE$, a rare hereditary neurodegenerative disease characterized by four clinical cardinal signs (parkinsonism, depression/apathy, @PHENOTYPICFEATURE$, and central hypoventilation).	has_symptom
+25a8a9ab59bcbf29e44f0e0aeece8abf1ed06b2b	The female patient displayed dyspnea and @PHENOTYPICFEATURE$, indicating more advanced stages of Perry syndrome and for whom recently discovered specific mutation of @DISEASE$ had been identified.	has_symptom
+137ab17af08f4705a738d5a85c1f46425cfa2f2f	The female patient displayed dyspnea and @PHENOTYPICFEATURE$, indicating more advanced stages of @DISEASE$ and for whom recently discovered specific mutation of Perry syndrome had been identified.	has_symptom
+4de5ff40b120b4ebe11e79a874abe3dbf21fca91	Most patients with @DISEASE$ are not candidates for resection; thus, the main focus of treatment is palliation of malignant @PHENOTYPICFEATURE$ and esophagorespiratory fistulas.	has_symptom
+c0d0776143047eb0c242777b586adb856928c265	Progressive @PHENOTYPICFEATURE$ is common in patients with advanced @DISEASE$.	has_symptom
+6beb175f5bde4eb1345f8e856ec61a9bd1c92701	Fluoroscopic placement of self-expandable metallic stents is a safe and effective method of palliating severe @PHENOTYPICFEATURE$ and fistulas in patients with inoperable @DISEASE$.	has_symptom
+dfc0b1d46ad42b120e203d396582d7b5e088f932	A 67-year-old man with poorly controlled chronic obstructive pulmonary disease presented with progressive @PHENOTYPICFEATURE$ and was diagnosed with locally advanced @DISEASE$.	has_symptom
+478807135521c4a9a2c227a4d3002eef021f5c8e	Postoperative stenosis and @PHENOTYPICFEATURE$ after @DISEASE$ resection is the major problem.	has_symptom
+eaa26d20c348f9b4d88cdedfe660ee17d32184cc	In a prospective study, laparoscopic gastrostomies were performed by two institutions in 121 patients (88 men, 33 women; mean age, 58.3 +/- 11.16 years [range, 24-82]) with esophageal stenosis in locally advanced hypopharyngeal or oropharyngeal carcinoma, incurable @DISEASE$, and cerebral @PHENOTYPICFEATURE$.	has_symptom
+982522bf88c44785b3eb68592e1f1207f5eddaf0	A new case of the @DISEASE$ is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, @PHENOTYPICFEATURE$ and genito-urinary malformations.	has_symptom
+8984e59c739988149e48986e30cbb878801c2c43	Resistance to high-fat diet-induced @PHENOTYPICFEATURE$ and insulin resistance in mice with @DISEASE$.	has_symptom
+18a0cacc8fb7896be3b69f4428bddadb3a5f1f59	Extending the phenotype of @DISEASE$ syndrome and mapping of a critical region for @PHENOTYPICFEATURE$ and hyperphagia.	has_symptom
+8afc46c8a06ec0912f027cace2160fdcb4f7a21b	The levels of urinary and serum hydroxyproline are elevated in many disturbances, among them is a @PHENOTYPICFEATURE$ connected with @DISEASE$.	has_symptom
+5dfaf1c5dd5cbbcc4c8afd4a5f0561f5a149b926	The possibility that @DISEASE$ might have an adverse effect on cognitive development without producing @PHENOTYPICFEATURE$ has not been determined nor has its incidence been reported.	has_symptom
+edfaf372379442574cd53f6590ef0ea4b85e59de	@DISEASE$ is an extremely rare disorder consisting of low birth weight, @PHENOTYPICFEATURE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	has_symptom
+94dc57650276c30a078a4584edafb0ee880f208a	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+4afc8cbcdae74840f88fcf3566f0d1e2c23c2b1c	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @DISEASE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+ac75e68b7ae21ea9930db78a5da0d4fc0171c98d	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+532550036bb9fb8ee9f18c4dfebc4492702378eb	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+8068317da322b72c4949aac1dc7dd9a74f240200	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @DISEASE$, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, @PHENOTYPICFEATURE$, joint hypermobility, developmental delay, and cerebral atrophy.	false
+957478ce4a4e6cdb8b5b26f721630ee67093fd90	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+80d326fa972cb09c6da880b2b87d89d2d8aaec9b	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @DISEASE$, @PHENOTYPICFEATURE$, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+02cd4245db42a24d2a9ef35f4eeed207b3081013	Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, @DISEASE$, short stature, persistent hyperplastic primary vitreous, @PHENOTYPICFEATURE$, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.	false
+f04c1e379c1427ababa699e49de77d7ce37dd0ce	@PHENOTYPICFEATURE$ in @DISEASE$, 2, and 3.	has_symptom
+d38adbf7609a5f8a2d9de102a474d9d783ed8f90	We used Sca1(154Q/2Q) mice, an established knock-in mouse model of the polyglutamine disease @DISEASE$ (SCA1), which replicates human SCA1 features including ataxia, @PHENOTYPICFEATURE$, and neuronal death.	has_symptom
+9d0e07fc00b20457ffe9e6b1aa49c8ec3866684b	We used Sca1(154Q/2Q) mice, an established knock-in mouse model of the polyglutamine disease spinocerebellar ataxia type 1 (SCA1), which replicates human SCA1 features including @PHENOTYPICFEATURE$, @DISEASE$, and neuronal death.	false
+615a461a53bd3510ae23cdd9a3922d397f68081c	We used Sca1(154Q/2Q) mice, an established knock-in mouse model of the polyglutamine disease @DISEASE$ (SCA1), which replicates human SCA1 features including @PHENOTYPICFEATURE$, cognitive impairment, and neuronal death.	false
+c22e9b95f8ceaf0524c172dadc9aa69d486fb279	Polyglutamine expansion in the protein ATAXIN-1 (ATXN1) causes @DISEASE$ (SCA1), an inherited neurodegenerative disease characterized by motor deficits, @PHENOTYPICFEATURE$ and depression.	has_symptom
+fa7afb4329332b597e0333031fb82f94a1e1b81f	Rubinstein-Taybi syndrome (@DISEASE$) is a rare developmental disorder comprising of @PHENOTYPICFEATURE$, unusual facial appearance, broad thumbs, and big toes.	has_symptom
+891e90ecb0b14c4b71afbf26b86518e3dd871e82	@DISEASE$ (RTS) is a rare developmental disorder comprising of mental retardation, @PHENOTYPICFEATURE$, broad thumbs, and big toes.	false
+9c676ae3e2a2c0a9bda631a36ffa9c034345aaef	Rubinstein-Taybi syndrome (@DISEASE$) is a rare developmental disorder comprising of mental retardation, @PHENOTYPICFEATURE$, broad thumbs, and big toes.	false
+678a3e193bf81432126e8bc40d7e5b05b921919d	Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder comprising of @DISEASE$, @PHENOTYPICFEATURE$, broad thumbs, and big toes.	false
+6793183da5c9838516b92f94f392c510e453b973	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by typical facies, short stature, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	has_symptom
+414e1bf4a24de4ebc977e8fb4b6d82c40b24b175	@DISEASE$ (RTS) is characterized by typical facies, @PHENOTYPICFEATURE$, mental retardation, broad thumbs and broad great toes.	false
+ac8df808484b0bc42473fb993f63cb26975d93a1	Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, @PHENOTYPICFEATURE$, @DISEASE$, broad thumbs and broad great toes.	false
+f88364afc50c86d28e49c965a380ca70dcf41fd1	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by typical facies, @PHENOTYPICFEATURE$, mental retardation, broad thumbs and broad great toes.	false
+928e0724f9859d7ef29b017cb9c24f1257d89ae4	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, broad thumbs and great toes and a recognizable craniofacial phenotype.	has_symptom
+db0e1214e192af1955c2a8ae39ace43cb3ce0fe5	Rubinstein-Taybi syndrome (@DISEASE$) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and short stature.	has_symptom
+2438e2d0986e2a7f4c44328bc55639ccaa03e7ea	@DISEASE$ (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and @PHENOTYPICFEATURE$.	false
+abf22ffedf6d86728c8c5bc6269ecdfd84f6aeae	Rubinstein-Taybi syndrome (@DISEASE$) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and @PHENOTYPICFEATURE$.	false
+d47f548715542c1f9e8892619e96d960b37d6614	Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by @DISEASE$, a typical facies, broad thumbs and @PHENOTYPICFEATURE$.	false
+3aa5a7cce181690db50471528f8806a5548b9a04	Rubinstein-Taybi syndrome (@DISEASE$) is a rare multiple congenital anomalies-@PHENOTYPICFEATURE$ syndrome.	has_symptom
+b8e69a1a04e5131a06825639e59e04e654b9c53c	Rubinstein-Taybi syndrome (@DISEASE$) is a rare human genetic disorder characterized by @PHENOTYPICFEATURE$ and physical abnormalities.	has_symptom
+da037f4fdc1332b8281884f03205b9873b659572	Rubinstein-Taybi syndrome (@DISEASE$) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and @PHENOTYPICFEATURE$.	has_symptom
+89f103c557bd91b89e94e21cfee0646f0e0cb13c	Rubinstein-Taybi syndrome (RTS) is a @DISEASE$ characterised by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and mental retardation.	false
+d90478067b9e41be3e1a289ef63d2699ef576197	Rubinstein-Taybi syndrome (@DISEASE$) is a malformation syndrome characterised by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and mental retardation.	false
+9ff0f2b112614308032c1b5b30231bd7dafe9678	@DISEASE$ (RTS) is a malformation syndrome characterised by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and mental retardation.	false
+7ee180ce5adeb14e80529350caf80eb9468349fc	Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and @DISEASE$.	false
+927e20b9c2254f131db3d457a6be415cf9314cc9	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by moderate to severe @PHENOTYPICFEATURE$, distinctive facial features, and broad thumbs and great toes.	has_symptom
+0f010f245a75dd1552953988277c1df91d8d007e	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by peculiar facies, @PHENOTYPICFEATURE$, broad thumbs, and great toes.	has_symptom
+926afb2b98c1ccf0a7abefe0ca895e4708ef7258	Patient presented with typical @DISEASE$ characteristics (growth and @PHENOTYPICFEATURE$, clubbing thumbs and toes and craniofacial abnormalities).	has_symptom
+e211dbb446242e37f78958b9b33c2344b71082f4	Severe neurological symptoms including @PHENOTYPICFEATURE$, short stature, and hypogonadism invoke @DISEASE$ (DCS).	has_symptom
+d303c1bb6bc2b3c9fdbc2c37227e2892dd078da0	Severe neurological symptoms including @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism invoke De Sanctis-Cacchione syndrome (DCS).	false
+724fc4a23456a4df2a623ba2c1d626c4296e03b5	Severe neurological symptoms including mental retardation, @PHENOTYPICFEATURE$, and hypogonadism invoke @DISEASE$ (DCS).	false
+f1f715f183abaf2647c19e036bdb9a79f789a205	We present a series of nine patients with early-onset hydrocephalus who had @PHENOTYPICFEATURE$ and continuous spikes and waves during slow sleep (@DISEASE$) associated with neurocognitive and motor deterioration.	has_symptom
+28ee52589a14c657280cc2b5ead4f1611e3db7b9	We present a series of nine patients with early-onset @PHENOTYPICFEATURE$ who had seizures and continuous spikes and waves during slow sleep (@DISEASE$) associated with neurocognitive and motor deterioration.	false
+72c539284ea2d059447d7cb01d7400ef3735b66c	We present a series of nine patients with early-onset @PHENOTYPICFEATURE$ who had @DISEASE$ and continuous spikes and waves during slow sleep (CSWS) associated with neurocognitive and motor deterioration.	false
+eeae8e2ff7c7d8a036a0f3bdb0d36859adffea76	@PHENOTYPICFEATURE$ are often not the main problem in atypical rolandic epilepsies like @DISEASE$ or LKS and the amelioration of cognitive dysfunction by epileptic discharge is the prominent aim of an AED therapy.	has_symptom
+be590ec2bc6ea0d994897a85fde418ddea842ea7	In addition, nearly half of the patients with @DISEASE$ (47%) had post-operative hyponatremic @PHENOTYPICFEATURE$.	has_symptom
+209373747bb2411599b9db8529faf6a7666610dc	Interictal scalp HFOs may be a favorable non-invasive biomarker of predicting @PHENOTYPICFEATURE$ and cognitive outcome in @DISEASE$.	has_symptom
+5f4e86418e46d5e327fde66654bc5d1cd4cc1629	@DISEASE$ is an age-related condition, typically presenting in children around 5 years of age, with clinical @PHENOTYPICFEATURE$ which progress within 2 years to a severe epileptic encephalopathy.	has_symptom
+be09acc150862ab638e9407455fab4b7b032d2b8	The highest benefit was for @DISEASE$ patients with 2/3 responders, 50% @PHENOTYPICFEATURE$ free and no aggravation.	has_symptom
+bd8b69bdf3211b209ef1175e2d74b3ff8f9c8e10	Literature results so far point out a progressive deterioration and decline of intellectual functioning in @DISEASE$ patients, i.e. a loss of previously normally acquired skills, as well as persistent neurobehavioral disorders, beyond @PHENOTYPICFEATURE$ and EEG control.	has_symptom
+e3b6b9b2f5387225f1c6f85dc054dbe5695404f7	In these three disorders, both clinical @PHENOTYPICFEATURE$ and @DISEASE$ were suppressed at or before 16 years of age, although they were intractable before adolescence.	has_symptom
+1a06a53dda8dd9ffab8c5691276637bcbe91eae0	In complex cases of language and behavioural disorders, it is necessary to perform an EEG even in the absence of convulsive @PHENOTYPICFEATURE$, to diagnose a @DISEASE$ syndrome.	has_symptom
+4c688c21a514e3d2461ea66c3f089a2a39dee6b6	@DISEASE$ syndrome (CSWS) is a seldom form of epilepsy which may manifest by neurocognitive and/or psychiatric abnormalities, with or without clinical @PHENOTYPICFEATURE$.	has_symptom
+50f8e51d2543a49ca3c282c9582a5f38663313e5	Continuous spikes and waves during slow wave sleep syndrome (@DISEASE$) is a seldom form of epilepsy which may manifest by neurocognitive and/or psychiatric abnormalities, with or without clinical @PHENOTYPICFEATURE$.	has_symptom
+6c67fdb3e8862d658af26f9308d45e7aa21ccc7f	We emphasize the importance of @PHENOTYPICFEATURE$ which, when present in combination with other ultrasound evidence of this syndrome, should be used as a clue for the diagnosis of @DISEASE$.	has_symptom
+e9bf518daa565e6461ac1f03308e962dd2fd7d82	@DISEASE$ is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, @PHENOTYPICFEATURE$.	has_symptom
+de1907d6f3ca3af82eb0cf6b6cc01fe31253848a	Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, @PHENOTYPICFEATURE$, arachnodactyly, failure to thrive, and, infrequently, @DISEASE$.	false
+bef13ee68014f642563603cab356bee34f957ec1	@DISEASE$ is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, @PHENOTYPICFEATURE$, arachnodactyly, failure to thrive, and, infrequently, renal anomalies.	false
+1fda3388a873cc1e894cec74433481dae9fb616e	@PHENOTYPICFEATURE$ in @DISEASE$: a clue for prenatal diagnosis.	has_symptom
+80ea96f564692418c538b709fcbb0e60c684f11b	[@DISEASE$ as a cause of preventable @PHENOTYPICFEATURE$].	has_symptom
+7c92fba87e4fbecac671f38c447d23619db22d8d	Microcephaly and @PHENOTYPICFEATURE$ have been principal features of the @DISEASE$.	has_symptom
+fbd1ad1618d216a07e54d93b2340eaa3e590965a	@DISEASE$ is the main etiology of @PHENOTYPICFEATURE$ in France.	has_symptom
+6d7c3fe4acb5f0bd5d6904bafbd73f529c66c703	@DISEASE$ (FAS) is the most common cause of nongenetic @PHENOTYPICFEATURE$.	has_symptom
+f0c27a89174e29ab442e5e474c126ff76caf4034	Contribution of @DISEASE$ to @PHENOTYPICFEATURE$.	has_symptom
+00c4e7b84e9cba2d6ec816630ad8a38325247cb4	@DISEASE$ is a leading cause of @PHENOTYPICFEATURE$.	has_symptom
+d25f6ad3f2aed7573abb4501abbdc9030b80f104	@DISEASE$ is the leading cause of @PHENOTYPICFEATURE$ in the United States.	has_symptom
+ceef6353ffa61a46fb4e76b866cd93305ab1ac8b	@DISEASE$ is a major cause of @PHENOTYPICFEATURE$.	has_symptom
+271253ce9ee8b4b1304bb1d0e78534905fa7bb13	@DISEASE$ is now leading cause of @PHENOTYPICFEATURE$.	has_symptom
+f6cac7435ebbbbc5e798012822abf813e3eb5a3f	@DISEASE$ is the leading known cause of @PHENOTYPICFEATURE$.	has_symptom
+7098d476c790bc866f99eec2f5a15483ce99ff53	[Microphthalmos and @PHENOTYPICFEATURE$ as diagnostic index in ultrasound diagnosis of @DISEASE$].	has_symptom
+2b4670b40a990ad8a17ea4f84e2633d48b4b2235	Moreover, AChE activity was found to be high in the sarcoplasm of more than 10% of the fibers from 28 biopsies of abnormal muscle including cases of hemiplegia, spinal cord injury, denervation and neuropathy, infantile spinal @PHENOTYPICFEATURE$, Duchenne, limb-girdle and facioscapulohumeral dystrophies, @DISEASE$ and a myasthenic syndrome.	has_symptom
+21cd4df8ab0264f57d0162aea954d266b16ec960	Such cases included Duchenne, limb-girdle and facio-scapulo-humeral dystrophy, neurogenic and spinal @PHENOTYPICFEATURE$, spinal cord injury, peripheral nerve injury, @DISEASE$ and myasthenic syndrome.	has_symptom
+7d70312402264a709f8dae079950f5c14a8be4cc	@DISEASE$ caused by PPIB mutation with severe phenotype and @PHENOTYPICFEATURE$.	has_symptom
+371b20fad7c1e6f56d97946054bcbb003bed6260	Hearing loss has been shown to occur in 42% to 58% of patients with @DISEASE$ (OI), with @PHENOTYPICFEATURE$ arising in 25% to 60% of the patients.	has_symptom
+20c6ac0f24606302627805c9958b683396cc72ce	Fetal @DISEASE$ (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue sclerae, @PHENOTYPICFEATURE$, and dentinogenesis imperfecta.	has_symptom
+a5747adcd94a23cca067b0dc204474c565455d40	@DISEASE$ (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, @PHENOTYPICFEATURE$, joint laxity, and soft-tissue dysplasia.	has_symptom
+500052164ee0d9b7217c44ea53973a1ad0adc0c5	@DISEASE$ (OI) is a common genetic disorder that manifests with intrauterine or pre- or postnatal fractures, blue sclera, and @PHENOTYPICFEATURE$.	has_symptom
+315e1de1be87d1625d2ea2a17c8ceebcef749f00	Van der Hoeve's syndrome is the all-round variant of Lobstein's disease (late @DISEASE$) and is characterized by the concurrent presence of osteoporosis, blue sclerae, and @PHENOTYPICFEATURE$.	has_symptom
+ca4f35767197754970f444b3816234b01c4622a9	@PHENOTYPICFEATURE$ and @DISEASE$: Literature review.	has_symptom
+6f1e235679348ff2b15b2523a92a217f985ba2c0	Patients with @DISEASE$ (OI) represent various degrees of bone fragility and accompany many clinical manifestations such as dentinogenesis imperfecta, blue sclera, growth disturbance, @PHENOTYPICFEATURE$ and so on.	has_symptom
+b2fe9ba4bfdd2ada76e7380df67c7b6ac7470f79	@DISEASE$ (OI) is a rare, autosomal-inherited, connective tissue disorder characterised by bone fractures, @PHENOTYPICFEATURE$ and blue sclera.	has_symptom
+1d8e8010b7bc9968339515fbe1dbd9377c18cd66	@DISEASE$ is a rare, autosomal dominant connective tissue disorder characterised by bone fractures, @PHENOTYPICFEATURE$ and blue sclera.	has_symptom
+4536f2ad0f8327f65c5e0e68f249ec4b601237bc	@DISEASE$ is an autosomal recessive condition characterized by profound sensorineural deafness, @PHENOTYPICFEATURE$ secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain.	has_symptom
+1593b295509642ac2072eecf2e978d512ca0e6d6	@DISEASE$ is an autosomal recessive condition characterized by profound @PHENOTYPICFEATURE$, hydrocephalus secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain.	false
+ef7aafa7ba6ee49bab6b7a630884efa4000fdfac	Chudley-McCullough syndrome is an autosomal recessive condition characterized by profound @PHENOTYPICFEATURE$, @DISEASE$ secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain.	false
+91890ecdbb8d7f344488e6e138186db3eb691322	@DISEASE$ is characterized by partial agenesis of the corpus callosum, interhemispheric cyst, cerebral and cerebellar cortical dysplasias, and @PHENOTYPICFEATURE$.	has_symptom
+f5cc453e1a513c3a8ab58e3151e1e94e4e6bd622	Sensorineural deafness, @PHENOTYPICFEATURE$ and structural brain abnormalities in two sisters: the @DISEASE$.	has_symptom
+8cf8778ea025cc3577885c359f57ef674373f326	@PHENOTYPICFEATURE$, @DISEASE$ and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.	false
+f225304a0d5b710c592b4a8441faf1cdc75f6823	@PHENOTYPICFEATURE$, hydrocephalus and structural brain abnormalities in two sisters: the @DISEASE$.	false
+b45e3b5633440c3290ba4363baef68e9caf817c4	It is well established that hyperprolactinemia, most typically seen in @DISEASE$ patients, causes @PHENOTYPICFEATURE$ and impotence.	has_symptom
+b88856c99a1ca928a9456cd605004aa5a732d790	This study was designed to determine whether previous Cushing's disease (CD) or @DISEASE$ (PRL) could exert adverse effects additional to those of growth hormone (GH) deficiency as a consequence of variable degrees of prior @PHENOTYPICFEATURE$ or hypercatabolism.	has_symptom
+532eb9da9b65d3536a3e70304d0dab2294df88ec	@DISEASE$, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by @PHENOTYPICFEATURE$ (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features.	has_symptom
+ec3ed27ca298423a1fa92c66a796d82b30f90af0	Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by @DISEASE$ (ID), autism spectrum disorder (ASD), characteristic @PHENOTYPICFEATURE$, and other variable clinical features.	false
+05e20207e5e2ef659cb0d69eb376dc99f7631c71	Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), @DISEASE$ (ASD), characteristic @PHENOTYPICFEATURE$, and other variable clinical features.	false
+cfb57764f6639c6ff8171eecb97d840f6c19b920	Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (@DISEASE$), characteristic @PHENOTYPICFEATURE$, and other variable clinical features.	false
+1f0d9d55458aaeb18a99755d12282b97b2272d12	@DISEASE$, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic @PHENOTYPICFEATURE$, and other variable clinical features.	false
+cf0488812a9e7b53f4585c3aafd2088052f9c0bf	Patients with @DISEASE$ have multisystem involvement including @PHENOTYPICFEATURE$, hypotonia, and characteristic facial features.	has_symptom
+4290485c2e77d0f9f207d85c212c1cf9c926845b	To characterise the breakpoints of a de novo balanced translocation t(X;9)(p11.23;q34.3) in a @PHENOTYPICFEATURE$ female patient with clinical features similar to the @DISEASE$.	has_symptom
+05449e87e951c843a5d1c30b4a31db97cabb67cf	Moreover, EHMT1 loss of function results in @DISEASE$, characterized by severe @PHENOTYPICFEATURE$, developmental delays and psychiatric disorders.	has_symptom
+54d7bbc2b075a4e4f0cf23a5ed94c210dc192d9b	@DISEASE$ (KS) (9q34 deletion syndrome) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, frequently coupled with a spectrum of complex physical and clinical manifestations.	has_symptom
+589f111eb7dc332791a50314653d8875bf231bc3	@DISEASE$ (KS) is characterized by developmental delay, @PHENOTYPICFEATURE$, hypotonia and distinct facial features.	has_symptom
+d38d31fb7029496cbc3f8d937130b806cc143ac5	The core phenotype of @DISEASE$ (KS) is characterized by @PHENOTYPICFEATURE$, childhood hypotonia, and a characteristic facial appearance.	has_symptom
+7c6c1424edaee93527b05e33493f1badf06b7adb	@DISEASE$, a disease with @PHENOTYPICFEATURE$, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1.	has_symptom
+4483f0ff89ff9c5a3d35b3ffeb8997cfb90fdb32	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, muscular hypotonia in childhood and typical facial features.	has_symptom
+dd302b2e5164adb9436ee4c95829b3ea605717b0	@DISEASE$ is characterized by intellectual disability, @PHENOTYPICFEATURE$ in childhood and typical facial features.	false
+6b372bcea7c8b60bd545f9527be86e898267a76b	Kleefstra syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$ in childhood and typical facial features.	false
+3b8b2816a870088bd01bba2ddcb97db73c971efc	Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause @DISEASE$, a neurodevelopmental disorder that is characterized by autistic-like features and severe @PHENOTYPICFEATURE$ (ID).	has_symptom
+4ea01f0c0053151e29126d6f45012a8d50817bbb	Among the clinical manifestations of Lyme borreliosis, cutaneous involvement is four times more frequent than @DISEASE$ and @PHENOTYPICFEATURE$ is less frequent in Italy than in the USA.	has_symptom
+f4d1f15d51cb673652e69eaae059433f5e9ad06b	@DISEASE$ @PHENOTYPICFEATURE$ and chronic myositis accompanied by typical chronic dermatitis.	has_symptom
+10b44c193f2ebd21e12d1d5a0d8eee63d88acd3c	@PHENOTYPICFEATURE$ and delirium in 4 patients with @DISEASE$.	has_symptom
+0157e224d2725c7b6120dab3e4e30b9fad6490ac	The present study confirms that @DISEASE$ is one of the causes of @PHENOTYPICFEATURE$, but the prevalence seems to be very low.	has_symptom
+6f1affa3b88ff836bff91a94f88f6714b7c28773	None out of 62 patients with @DISEASE$ diagnosed early met criteria for @PHENOTYPICFEATURE$.	has_symptom
+907de8f5fcd4ef1feb0eac263ede8fc87088e99a	A Chinese @DISEASE$ manifested as @PHENOTYPICFEATURE$.	has_symptom
+9df7287ae183c197906a4797f6fa011f5fb06450	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+cfb8604b09e683c6c589b9cefdb42324061ea4ef	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	has_symptom
+172a895dbb786a318e9bef1900d4916d9eb2e0e1	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+995cc5520bb0bf0371cba96c472f6284f9543146	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+1fc1923ac0863c84d5e8abe9304e66e7de16492c	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+da593f709387059cf35026c4578e28c73436597d	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@DISEASE$, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+d4e4f30c1322786dfb692922c2ed66e85b201c08	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+5160b93e73b4673fff3f2da8d19c944bac37d07d	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+93cfcb7c838282ebfcd74d43c55f475053e7dcb3	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+fb12ce1d9cc6afddf78be763d748f08771e1586f	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+649f63343d5217550088d6ed3d3d1f429ccfdde0	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+bb9e6986d7395006c568484d9b76cd45a1b6e69e	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@DISEASE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+0bee010d561fd8a4d6b18b430b30a2292efd429b	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+5824aeba313a678416941f5294737a7e044509ac	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@DISEASE$, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+09abd053604c4ab1fe01f9c704db13c696385251	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@DISEASE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+c6e89a4228c2cb66d81f3d7fe5b66a73b19d580d	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@DISEASE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+da806bcf36c56e7406f3aaca2765f501fcae8270	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f06745f80306f4ceead92349f6c3f882fb6f24a8	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+2ece97a8532cb94a23a583b6845d4f0d6c66231b	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+9d7368e3fea3ae16c11ef1613d73b0d8424d08b8	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) @DISEASE$ or VACTERL (vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8c557e81cbc565064b503348fe9037ff48c850e4	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+32dbaa4e7868da7ea8f51d977fb2a50d2ba79de2	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+9923404032a5b42e86cfbf6b126b6eb1d71cc3ae	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@DISEASE$, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+f88364afc50c86d28e49c965a380ca70dcf41fd1	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by typical facies, @PHENOTYPICFEATURE$, mental retardation, broad thumbs and broad great toes.	has_symptom
+a099aac4c2afce7039ecb926564057bc05d062b9	@DISEASE$ (RTS) is characterized by typical facies, short stature, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	false
+6793183da5c9838516b92f94f392c510e453b973	Rubinstein-Taybi syndrome (@DISEASE$) is characterized by typical facies, short stature, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	false
+18fa0ab9e3ba6c4029fc38dedac8cc9819776f09	Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, @DISEASE$, @PHENOTYPICFEATURE$, broad thumbs and broad great toes.	false
+4ed2d07723278d109540d4a2d33e5bf0404bab7d	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, @PHENOTYPICFEATURE$ and skeletal defects.	has_symptom
+a900c343305efaae80a1b3ac5a67ed37eff5bf33	@DISEASE$ (RTS) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, @PHENOTYPICFEATURE$ and skeletal defects.	has_symptom
+abf22ffedf6d86728c8c5bc6269ecdfd84f6aeae	Rubinstein-Taybi syndrome (@DISEASE$) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and @PHENOTYPICFEATURE$.	has_symptom
+898e7bd291c117d745823a1ed8bc2237e49bffb6	@DISEASE$ (RTS) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and short stature.	false
+db0e1214e192af1955c2a8ae39ace43cb3ce0fe5	Rubinstein-Taybi syndrome (@DISEASE$) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and short stature.	false
+c4286f69fdb3a2bcbafcbaccd1a1dc8d6f51b20c	Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by @PHENOTYPICFEATURE$, a typical facies, broad thumbs and @DISEASE$.	false
+f8a33d4eb8dfa426a677c03193b4736c4c2ab66b	@DISEASE$ is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, @PHENOTYPICFEATURE$, and skeletal defects.	has_symptom
+9b0658808334b63bf08fe78aa116b623156651fd	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass.	has_symptom
+2368f3232796f3b6e23ed589b030d5ec99e0e457	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass.	has_symptom
+5e75f8987b5a4f1464b67f3d473fc993f306fbce	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, @PHENOTYPICFEATURE$, increased risk of osteosarcoma, and decreased bone mass.	false
+fb22fb919abbf486e1fbb05e3b7ab0df0e78c08a	Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, @PHENOTYPICFEATURE$, increased risk of @DISEASE$, and decreased bone mass.	false
+866bf25c8dc71056575a6f9cb63c6d9e50b868f6	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, @PHENOTYPICFEATURE$, increased risk of osteosarcoma, and decreased bone mass.	false
+600870b442341102d5945697fe0686d0ed158bd9	Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, @DISEASE$, sparse hair, @PHENOTYPICFEATURE$, increased risk of osteosarcoma, and decreased bone mass.	false
+0336f4f75f8d08caaac0725702f68392da38aa2e	@DISEASE$ (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, @PHENOTYPICFEATURE$, and skeletal anomalies.	has_symptom
+6bbda51619a8327806c21f93e1f9431b7f92e0cb	Rothmund-Thomson syndrome (@DISEASE$) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, @PHENOTYPICFEATURE$, and skeletal anomalies.	has_symptom
+844f5fb0a3925e7454763ffc3bbbac85875f2454	Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4f3b860051bbd8ac99067d7cf5607a0996549470	@DISEASE$ (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and @PHENOTYPICFEATURE$.	false
+aad2fa1b076d445615843a09209b25f7945c2fa5	Rothmund-Thomson syndrome (@DISEASE$) is an autosomal-recessive disorder characterized by poikiloderma, sparse hair, short stature, and @PHENOTYPICFEATURE$.	false
+42a62342e9ea89550738d3f8284d1209467242eb	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	has_symptom
+5d5406baaa77c39f70a0e7189f1a96480cfab361	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @PHENOTYPICFEATURE$, skeletal and dental abnormalities, cataract and an increased risk of cancer.	has_symptom
+9101b4a6428a08b7587a65c2824468ec642e9bd7	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+5961861589e3164acfcdbe3d4bee557909c7de49	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of @DISEASE$.	false
+dc7d49872b9222532b639a33decb11e600a2cf18	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive @DISEASE$ characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+f996682a8657753bc83f4c689aada8f4b2e059b2	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @DISEASE$, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+536d1ab3390721c6905c53362a25d59c1f1a445a	Rothmund-Thomson syndrome (@DISEASE$)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+4e2fb559c66688c63c6fe68914b4802abc937094	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of @DISEASE$.	false
+98ff0fc430d1e18c7e6f75fa2d8ee3d4922210a7	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive @DISEASE$ characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+d4da08f3a0dca979ec97237e9204623d4e0b77b6	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+200cd9aebf0cac63451e658a6bc93253dd7be098	@DISEASE$ (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, @PHENOTYPICFEATURE$ and an increased risk of cancer.	false
+f4d502f5ced12fffe24a0cf139d39bb52f0b3cbe	Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, @DISEASE$, skeletal and @PHENOTYPICFEATURE$, cataract and an increased risk of cancer.	false
+08fd2c18b85d1efbfb372b6a27167cb51428e77f	Patients with @DISEASE$ often present early in life with skeletal and dental abnormalities, @PHENOTYPICFEATURE$, juvenile cataracts, and a characteristic poikilodermal rash.	has_symptom
+5650d9711f0be6797fd203f6da5843ea862c63b2	Patients with RTS often present early in life with skeletal and @PHENOTYPICFEATURE$, @DISEASE$, juvenile cataracts, and a characteristic poikilodermal rash.	false
+17199ce11de372fcbab3b24c434d1dd6af5826a4	Patients with @DISEASE$ often present early in life with skeletal and @PHENOTYPICFEATURE$, short stature, juvenile cataracts, and a characteristic poikilodermal rash.	false
+4c708ba124b5268943b2d03e306b73e82c2cdaa1	Patients with RTS often present early in life with skeletal and @PHENOTYPICFEATURE$, short stature, juvenile @DISEASE$, and a characteristic poikilodermal rash.	false
+bae5f6fd339d70f459803e22b0c1d411254f4eb3	[An infant with @PHENOTYPICFEATURE$ and red cheeks (@DISEASE$)].	has_symptom
+d9c28feb4997ddec0a6da6daea44a49fa5ea89ec	Rothmund Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, @PHENOTYPICFEATURE$ and hypogonadism.	has_symptom
+bfd8d1f9194b71a0328730c6d2a6cc29026b82a6	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, @PHENOTYPICFEATURE$ and hypogonadism.	has_symptom
+a098528d74afb36f8f3bd414465c8b88167c15fa	Rothmund Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and @PHENOTYPICFEATURE$.	false
+82700a18e1ff1e15f62a374cf99a2b23299650e8	Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0ee2da833a54385727021d90d9bf107557453861	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterised by poikiloderma, dermal atrophy, dystrophic nails, short stature and @PHENOTYPICFEATURE$.	false
+2ebf6030ad10b126dd6248c70f44c658710b77f0	The levels of the plasma-aminoacids in patients with @DISEASE$ were only slightly different from those in patients with @PHENOTYPICFEATURE$, but generally lower than in tall children.	has_symptom
+37ddcb372c4c5345e95e3d1945e20c5064695e4d	Subtracting the symptoms of @DISEASE$ from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced @PHENOTYPICFEATURE$ and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	has_symptom
+24f940b6e643b3225aa93b3f75e9f33a14e0f144	Subtracting the symptoms of @DISEASE$ from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal @PHENOTYPICFEATURE$, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+d2143df6f86c4a520d2e925fa59aaf1346695570	Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, @PHENOTYPICFEATURE$ with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor @DISEASE$, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+ddec17640cb630bbe1f517707c3d95f343f8dde3	Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal @PHENOTYPICFEATURE$, and multiple minor anomalies such as mildly bell-shaped chest, minor @DISEASE$, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+84867173d5fde061f763e339a2c840aed6d2cacc	Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced @DISEASE$ and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal @PHENOTYPICFEATURE$, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+5932958e4a153eb25c0d25e2cd8e571045fe54e1	Subtracting the symptoms of @DISEASE$ from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, @PHENOTYPICFEATURE$ with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+440cdb971597ddcf7a7b78ae74a0cd421765b599	Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced @DISEASE$ and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, @PHENOTYPICFEATURE$ with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+be3df24d8d407566786502b31d883f4917b75a5c	Recurrent episodes of lower respiratory tract infections (LRTIs) are a rare complication of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+48aaea61286ae79f5780caf9858033331b3cd501	The authors report the case of an 81-year-old man with a history of severe psychosis and depression, who presented with progressive confusion and @PHENOTYPICFEATURE$ likely unrelated to a @DISEASE$ of his right lateral ventricle.	has_symptom
+9c0cf1d035d40f2cd83f6c3c5d74a200fa4f886e	We found significantly lower total symptom score (@DISEASE$) during the 7th (p?=?.009), 14th (p?=?.003), 21st (p?<?.001) and the 28th day (p?=?.001), lower total endoscopic score (TES) on the 21st (p?=?.002) and 28th day (p?=?.001), lower nasal obstruction, facial pain/pressure, headache and trouble sleeping, and lower nasal mucosal @PHENOTYPICFEATURE$, nasal secretion and nasal crusting in patients treated by hypertonic sea water.	has_symptom
+e9a7605e064268a703bb8abe128daff766ad1caa	We found significantly lower total symptom score (@DISEASE$) during the 7th (p?=?.009), 14th (p?=?.003), 21st (p?<?.001) and the 28th day (p?=?.001), lower total endoscopic score (TES) on the 21st (p?=?.002) and 28th day (p?=?.001), lower nasal obstruction, facial @PHENOTYPICFEATURE$/pressure, headache and trouble sleeping, and lower nasal mucosal edema, nasal secretion and nasal crusting in patients treated by hypertonic sea water.	false
+b4694791d1c5c1972d5744339e400ce99c5c25ba	We found significantly lower total symptom score (TSS) during the 7th (p?=?.009), 14th (p?=?.003), 21st (p?<?.001) and the 28th day (p?=?.001), lower total endoscopic score (TES) on the 21st (p?=?.002) and 28th day (p?=?.001), lower nasal obstruction, facial @PHENOTYPICFEATURE$/pressure, headache and trouble sleeping, and lower nasal mucosal @DISEASE$, nasal secretion and nasal crusting in patients treated by hypertonic sea water.	false
+0d655ea8eebaacfeaaaac5aa7136dd97083c06df	Oligoyric @PHENOTYPICFEATURE$ in a child with @DISEASE$.	has_symptom
+b648401adc4b83f41b31e6167b391ba4c4853ae2	Clinical @PHENOTYPICFEATURE$ and EEG abnormalities in patients with @DISEASE$ are sometimes noted, but they are usually mild.	has_symptom
+5a686f7346f652eaf6f068393012c35090eed9e3	NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of @DISEASE$, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, @PHENOTYPICFEATURE$, distinctive facial phenotype.	has_symptom
+801d05b4eb2e3b8f0649bd97ae90765d571f6fe6	NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning @PHENOTYPICFEATURE$, @DISEASE$, distinctive facial phenotype.	false
+9ac65ce825b6f3f2f656a8c489d516defaa8903f	NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of @DISEASE$, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning @PHENOTYPICFEATURE$, seizures, distinctive facial phenotype.	false
+e6bdcf8b97e94c971e6a4911f9fcc25692fa0c4c	@PHENOTYPICFEATURE$ and epilepsy in @DISEASE$: analysis of 19 Caucasian patients with long-term follow-up.	has_symptom
+0c69d703577556f08ebd82d06c0b1fe997ed0451	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @PHENOTYPICFEATURE$, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	has_symptom
+fe68f3966ffec915927bd7e6bcc1b3f63c49b67c	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, @DISEASE$, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+7698389577e9321cc79caadf47b87d32867b17a3	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, @DISEASE$, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+c30627cdf5c4c5a2a08d887f7d0eb4a27dca7e82	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, @DISEASE$, @PHENOTYPICFEATURE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+57bb5cba1828d9b9ea6d6942bc06dfe84fff202c	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+81a2d79d35d0b6faf689977eafd084b22317a608	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, facial dysmorphism, @PHENOTYPICFEATURE$ and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+3e0041091926cf51c1e5c6c6be141a50c5eee642	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+9a2182dad4ee44cb42b731e11f928f4e23e30992	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+c2615462d13c18c81438918bde0f686fb8e7a428	The boy is characterized by @PHENOTYPICFEATURE$, developmental delay, short stature, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+7a249cf7e64b68677d5b7329af17b21e0529dce6	The boy is characterized by intellectual disability, developmental delay, short stature, expressive language delay, facial dysmorphism, @PHENOTYPICFEATURE$ and multiple @DISEASE$, which are mostly consistent with the characteristics of Xia-Gibbs syndrome.	false
+0972d0798a9a605b1f7e0a043a646a15678bd353	Mutations in the AHDC1 gene are associated with the @DISEASE$ (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, @PHENOTYPICFEATURE$, and cerebral malformations with plagiocephaly.	has_symptom
+1caba9476be07ae91657e08ac097cf40ba1a2553	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic @DISEASE$ characterised by developmental delay, intellectual disability, hypotonia, obstructive @PHENOTYPICFEATURE$, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+cdff6c565d3db015d1513ed2964f4e6f3127eba2	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, @PHENOTYPICFEATURE$, hypotonia, obstructive sleep apnoea, @DISEASE$, and cerebral malformations with plagiocephaly.	false
+c59240a285069e60ceabcb8e2f6433f5ec400b4f	Mutations in the AHDC1 gene are associated with the @DISEASE$ (XGS), a sporadic genetic disorder characterised by developmental delay, @PHENOTYPICFEATURE$, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+ae6fbd10b224cff1bb991ea2f3f2797935b31c6d	Mutations in the AHDC1 gene are associated with the @DISEASE$ (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive @PHENOTYPICFEATURE$, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+653eeb01108de3f29a9c3061a65ed5cc4069a844	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive @PHENOTYPICFEATURE$, @DISEASE$, and cerebral malformations with plagiocephaly.	false
+5a42e0d48c904d841dd4c1f69918d607239b2442	Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic @DISEASE$ characterised by developmental delay, @PHENOTYPICFEATURE$, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly.	false
+8fcdec0119ae4f89439726d33f37343872345303	Adults with @DISEASE$ present less commonly with severe @PHENOTYPICFEATURE$ than do children with this lesion.	has_symptom
+4c988433fafb60da2dfff6b48a0e21a91ec65e56	These patients showed large @PHENOTYPICFEATURE$ kidneys with a combination of focal segmental glomerulosclerosis (@DISEASE$) and tubulointerstitial lesions.	has_symptom
+185d2ea422265e68f9d4bba802e7f882938d24ae	These patients showed large @PHENOTYPICFEATURE$ kidneys with a combination of @DISEASE$ (FSGS) and tubulointerstitial lesions.	has_symptom
+086e19ee84d14fc5a1be26389ee629ba92666184	@DISEASE$ (FSGS) is a renal pathology finding that represents a constellation of rare kidney diseases, which manifest as proteinuria, @PHENOTYPICFEATURE$ nephrotic syndrome, hypertension, and increased risk for kidney failure.	has_symptom
+1e3b787641e555a5fdd249866dc63d276b4eff79	Focal segmental glomerulosclerosis (@DISEASE$) is a renal pathology finding that represents a constellation of rare kidney diseases, which manifest as proteinuria, @PHENOTYPICFEATURE$ nephrotic syndrome, hypertension, and increased risk for kidney failure.	has_symptom
+66664d8b9dd02bd74a7d3dd3bc35b51617acf9d9	Focal segmental glomerulosclerosis (@DISEASE$), the leading glomerular cause of the nephrotic syndrome among African Americans, is typically associated with @PHENOTYPICFEATURE$, proteinuria, hypertension, microscopic hematuria, and renal insufficiency.	has_symptom
+5bb9884162a99fdccb00a337798828b27779be83	@DISEASE$ (FSGS), the leading glomerular cause of the nephrotic syndrome among African Americans, is typically associated with @PHENOTYPICFEATURE$, proteinuria, hypertension, microscopic hematuria, and renal insufficiency.	has_symptom
+25f01bb32ac145e33bac416091c0306c0213a790	Pediatric and adult HIV-positive patients both experience HIVAN morphologically after displaying @DISEASE$, diffuse mesangial hyperplasia, microcystic tubular dilatation, interstitial inflammation, @PHENOTYPICFEATURE$, and fibrosis.	has_symptom
+b0136779989a37099edd7a0b16972ab052991004	Focal and segmental glomerulosclerosis (@DISEASE$) is a histological pattern clinically characterized by nephrotic proteinuria, hypoalbuminemia, @PHENOTYPICFEATURE$ and dyslipidemia.	has_symptom
+b20553900df598e17b591fa6e080af9f33a8ca6c	An unusual case of @DISEASE$ presenting with retropharyngeal @PHENOTYPICFEATURE$.	has_symptom
+6f08bc40148f2cc68f8f62037df9921975c80eba	Persistent proteinuria without @PHENOTYPICFEATURE$, associated with focal segmental glomerulosclerosis (@DISEASE$), has been increasingly observed in our pediatric population.	has_symptom
+c3250db5932c9bfabf39ca56c21719d3610aa13d	Persistent proteinuria without @PHENOTYPICFEATURE$, associated with @DISEASE$ (FSGS), has been increasingly observed in our pediatric population.	has_symptom
+6607b3f54f78968ce56f776f51762fe08d336700	A 38-year-old man suffering from general malaise and pretibial @PHENOTYPICFEATURE$ was diagnosed FGS by renal biopsy in October 1988, and was referred to our hospital for further evaluation and treatment for @DISEASE$ in December 1988.	has_symptom
+43158dc970a81e35e5eaedb883a95d61a5f1e57f	A 38-year-old man suffering from general malaise and pretibial @PHENOTYPICFEATURE$ was diagnosed @DISEASE$ by renal biopsy in October 1988, and was referred to our hospital for further evaluation and treatment for FGS in December 1988.	has_symptom
+378e54940b7033476d1e806a3404668170c45c34	In five patients with @DISEASE$ with hypoalbuminemia without @PHENOTYPICFEATURE$, all component levels were normal.	has_symptom
+5026517e5040aadfb6d86bdf10e3442346909ccc	In five patients with @DISEASE$ with @PHENOTYPICFEATURE$ without edema, all component levels were normal.	false
+4bce52479340f325fd659c52a9604008606dc36c	In five patients with FGS with @PHENOTYPICFEATURE$ without @DISEASE$, all component levels were normal.	false
+9f409623007d8a6bda7be6a61e2ce36d8bc520d2	Although the child has neither colobomas nor @PHENOTYPICFEATURE$, he shows phenotypic overlap with the @DISEASE$, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22.	has_symptom
+9faa4f2f07107bd23e6b8d3e48716e22b8a4470d	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @PHENOTYPICFEATURE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	has_symptom
+473af8cb805a27d059f9f29b0115f324ab4769c7	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+97b1c85223e089eb11b6a51f6d7fec0c9d495ed1	The cat eye syndrome is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+d495648157b1d042dd65839f3f808802be11696a	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+7969ffd1600462019242c50caeee984c3ddcfee7	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+998e2fde2ebd5f9e310d188d770a13005852338f	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+7aede71a3b23149291bd0d4840b0caa11ef1ae2d	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+364d875a6361929c7ff028892a6c4c18e8750176	The @DISEASE$ is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+20f38bb0bcd0c1fe99349fefbeea4e756748db1f	The cat eye syndrome is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+219504d893a050b38d0edb95f84a3bbf134e6eb3	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @DISEASE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+513955d91483b6a6e5f0eb92bedcd8424d4a3663	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+919b2fec47006a88722a759eeaae276c0b5c7820	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @DISEASE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+c3816ecfb05c41cf827dcf5a3baf6a6d17ec9e68	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+44499f787a8a1184abcf63c0e6b31b4cc7b2bd7c	The cat eye syndrome is a congenital malformation usually associated with @PHENOTYPICFEATURE$, ocular coloboma, downward slanting eyes, @DISEASE$, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+b826880df2152b5809c41edd71b1ca1f9f22e76e	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, @DISEASE$, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+013ef1d4e3696c8fa8a5ccd9bacc048f9470407a	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, @DISEASE$ particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+206acbcbc077ed8e82708c90d5da69e7e6e023c2	The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, @PHENOTYPICFEATURE$, strabismus, preauricular tags or fistulas, congenital heart defect particularly @DISEASE$, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation.	false
+a1551931b6145c1d1d690f0ac09088737aae1c30	Pronounced @PHENOTYPICFEATURE$ in a girl with tricho-rhino-phalangeal syndrome II (@DISEASE$ II, Langer-Giedion syndrome) and growth hormone deficiency.	has_symptom
+0806473be455f05d0b0a3477506cbed3206e6e0a	@DISEASE$ I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including @PHENOTYPICFEATURE$, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses and hip dysplasia.	has_symptom
+143b30768c8fa11b0a33af945af6ff270becf72a	Growth retardation is a feature frequently found in these patients, who commonly are of @PHENOTYPICFEATURE$; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II @DISEASE$.	has_symptom
+19b500394245ba266043f102ad0f793ceaa2a20c	Growth retardation is a feature frequently found in these patients, who commonly are of @PHENOTYPICFEATURE$; however, only one case with growth hormone deficiency has been described in a @DISEASE$ patient and that patient had type II TRPS.	has_symptom
+158824651618f6d0af53dcf66b2618b2ab952c86	@PHENOTYPICFEATURE$ is a feature frequently found in these patients, who commonly are of @DISEASE$; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS.	false
+08375e81d63d32d0323473367bf66280960a6cef	@PHENOTYPICFEATURE$ is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II @DISEASE$.	false
+b0986c852fb48d80ffbfdbc675a64f4714dc5fef	@PHENOTYPICFEATURE$ is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a @DISEASE$ patient and that patient had type II TRPS.	false
+3a004e694dfca773c207380d31dace848ded6c43	In addition, individuals with @DISEASE$ generally share skeletal and bone anomalies, including shortening of the phalanges and metacarpals (mild to severe brachydactyly), cone-shaped epiphyses, hip dysplasia, and @PHENOTYPICFEATURE$.	has_symptom
+9e81e91f6e107262e26704ff35a588ef163d04dd	In addition, individuals with @DISEASE$ generally share skeletal and bone anomalies, including shortening of the phalanges and metacarpals (mild to severe @PHENOTYPICFEATURE$), cone-shaped epiphyses, hip dysplasia, and short stature.	false
+e89df6476ed5824d95b72ced9a4503cb69415d5e	In addition, individuals with TRPS generally share skeletal and bone anomalies, including shortening of the phalanges and metacarpals (mild to severe @PHENOTYPICFEATURE$), cone-shaped epiphyses, hip dysplasia, and @DISEASE$.	false
+112fe974943272002c851a45cada92423d572c58	Careful clinical examination showed craniofacial and radiologic features typical of @DISEASE$ I, including @PHENOTYPICFEATURE$, in all 3 affected individuals.	has_symptom
+4613286c5854ed0492c7f3d9a4ebf94ab5d0e51d	Patients with @DISEASE$ have @PHENOTYPICFEATURE$, hip abnormalities, cone-shaped epiphyses and premature closure of growth plates reflecting defects in endochondral ossification.	has_symptom
+b3092989c924b8790ad2dc82c8ce6ea16d351e74	Tricho-rhino-phalangeal syndrome (@DISEASE$) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including @PHENOTYPICFEATURE$, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses.	has_symptom
+5f0dad861b061e9252cc3526eb70a988820fad9c	Trichorhinophalangeal syndrome (@DISEASE$), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (@PHENOTYPICFEATURE$ and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	has_symptom
+dbfa51dac1cab4036f886450a8938b7c2326d349	@DISEASE$ (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (@PHENOTYPICFEATURE$ and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	has_symptom
+69a81edcea61ad04fb3ff811e720f316a63aae3f	@DISEASE$ (TRPS), a type of @PHENOTYPICFEATURE$, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	false
+79ae7b9b68c857c48a89bea14bfab302e88a35ce	Trichorhinophalangeal syndrome (@DISEASE$), a type of @PHENOTYPICFEATURE$, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	false
+1899f80cfb679f87d90add23624d1b0ca17193aa	Trichorhinophalangeal syndrome (TRPS), a type of @PHENOTYPICFEATURE$, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (@DISEASE$ and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	false
+78c64c2c1593eabd67aa6449bf6669e901cc27aa	A review of the literature is included to address whether @DISEASE$ I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive @PHENOTYPICFEATURE$.	has_symptom
+0b53c26857f667fdd806b09d7adb17afdf5c65e0	Previous genotype-phenotype studies have correlated exon 6 missense mutations with @DISEASE$ type III, a severe form of type I with pronounced, facial characteristics, @PHENOTYPICFEATURE$ and brachydactyly and differing from type II by the absence of exostoses and mental retardation.	has_symptom
+69c7d33ec042415873c1aab723e45de0d4cdcd2d	Previous genotype-phenotype studies have correlated exon 6 missense mutations with @DISEASE$ type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and @PHENOTYPICFEATURE$.	false
+61c1dc176ab992d1d7762315769dc06d255e8c28	Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, @DISEASE$ and @PHENOTYPICFEATURE$ and differing from type II by the absence of exostoses and mental retardation.	false
+a29176c3c3ae0029463096098b6aa473b8a2deba	Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, @DISEASE$ and brachydactyly and differing from type II by the absence of exostoses and @PHENOTYPICFEATURE$.	false
+26200195aed5de04100bc480ca64bf78a5384617	Previous genotype-phenotype studies have correlated exon 6 missense mutations with @DISEASE$ type III, a severe form of type I with pronounced, facial characteristics, short stature and @PHENOTYPICFEATURE$ and differing from type II by the absence of exostoses and mental retardation.	false
+feb7b3d7c6ccc57cf120f104b4249e0b29740948	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [@DISEASE$ (MEN 1), hyperparathyroidism-jaw tumour syndrome (HPT-JT) or familial hypocalciuric @PHENOTYPICFEATURE$ (FHH)] or still unrecognized causes.	has_symptom
+76363192b009b93e9fbe3a4fd22fe8d39c2dd60c	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), @PHENOTYPICFEATURE$-jaw tumour @DISEASE$ (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+1289703c529c181b3f4a9015aaa398d1b7daf8c4	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of @DISEASE$ [multiple endocrine neoplasia type 1 (MEN 1), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+f079e3bf5a36003a6a0bc5803b9f2a36d432fbde	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) or familial hypocalciuric @DISEASE$ (FHH)] or still unrecognized causes.	false
+125cdffd5a12dbc2ffdf119c0c9afd3498a5f40c	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT) or familial hypocalciuric @DISEASE$ (FHH)] or still unrecognized causes.	false
+72b0f77c935048ac71f4269adffc36a745039bad	Familial isolated @DISEASE$ (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+cac8c75c86aa3d53b9a9dd89355d6e13a0a7e96f	Familial isolated @DISEASE$ (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+7907f5b5f2029fa6a719ca4826d849a32d5717d9	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [@DISEASE$ (MEN 1), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+9e17af73a310127579f8812c4ebb3cb82b203005	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of @DISEASE$ [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+fd08f5505f1b9b1a0b3b089e5aee1b13b6b858bb	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ @DISEASE$ (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+d9d63b374ebb3cde9b2074b0bf836643456f2f48	Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [@DISEASE$ (MEN 1), @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.	false
+fcbff5b43c994fd503724e8b38dfab4ff8087f48	@PHENOTYPICFEATURE$ and/or nephrocalcinosis are the first and most common clinical manifestation in familial @DISEASE$, followed by islet cell tumors (especially those secreting gastrin or insulin) and pituitary dysfunction due to either functioning or non-functioning microadenomas.	has_symptom
+d5b39db9cebcda97de7ff09ebb0acbeed0e08295	She also had fasting hypoglycaemia and @PHENOTYPICFEATURE$, and she was diagnosed of @DISEASE$A.	has_symptom
+ae3292e34b7502547fda7a389bdb04359d81330a	She also had fasting @PHENOTYPICFEATURE$ and hypercalcemia, and she was diagnosed of @DISEASE$A.	false
+50e197f82a9c99f45129ce94cdeda6e484ec1ba6	She also had fasting @PHENOTYPICFEATURE$ and @DISEASE$, and she was diagnosed of Multiple Endocrine Neoplasia type 1A.	false
+aaa9084271cca0be824ba762859ebfdb064983fe	The patient is a 68-year-old male with @DISEASE$ (MEN-1), diagnosed in 1993 after presenting with recurrent renal calculi and @PHENOTYPICFEATURE$.	has_symptom
+9f423f25a552be762b74c83f4afa2f6ec28b49cd	PHPT may be sporadic or familial, the latter comprising @DISEASE$ or 2A, familial benign hypocalciuria @PHENOTYPICFEATURE$, and hyperparathyroidism-jaw tumor syndrome.	has_symptom
+7835f8e22f3c9ac8f8e4f152de9388c635e90ca7	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of @DISEASE$ (MEN1), hyperparathyroidism and jaw tumour syndrome (HPT-JT) and in familial hypocalciuric @PHENOTYPICFEATURE$ (FHH).	has_symptom
+afa9363d57cca6780d58844acf46d3f37e9ddb07	@DISEASE$ (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+b3d7708b7ac807e2072a537064f3faeadc05b6ed	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), @DISEASE$ and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+5cb1b6ac63fd09442eb7db5ed6f2eefbf1b2fae8	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of @DISEASE$ (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+8412756591e88e9663485ba9b3103b7b1cc56d6b	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and in familial hypocalciuric @DISEASE$ (FHH).	false
+06db9962a8d38b38a10a34f3ff0947ead6e51fc3	Familial isolated hyperparathyroidism (FIHP) can be encountered in the context of multiple endocrine neoplasia type 1 (MEN1), hyperparathyroidism and jaw @PHENOTYPICFEATURE$ @DISEASE$ (HPT-JT) and in familial hypocalciuric hypercalcaemia (FHH).	false
+0d623c7054d0365f9641184f4ec86095b3521ca9	Van Den Ende-Gupta syndrome (@DISEASE$) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, @PHENOTYPICFEATURE$, narrow nasal bridge, convex nasal ridge, and everted lower lip.	has_symptom
+2b03c0005f0faf755b603f3a02ffbbf9dc69e7b4	@DISEASE$ (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, @PHENOTYPICFEATURE$, narrow nasal bridge, convex nasal ridge, and everted lower lip.	has_symptom
+6632c20e6e257fcb833aa221adeab63666222a77	A 54 year-old man, who had a hereditary hemorrhagic telangiectasia (@DISEASE$; O-W-R) accompanied by pulmonary arteriovenous fistulas (PAVFs) and congestive heart failure, developed @PHENOTYPICFEATURE$, right hemiparesis and dysphasia.	has_symptom
+7338d9feeae2009453e83b891d6a24f3d03fcf16	A 54 year-old man, who had a @DISEASE$ (Osler-Weber-Rendu disease; O-W-R) accompanied by pulmonary arteriovenous fistulas (PAVFs) and congestive heart failure, developed @PHENOTYPICFEATURE$, right hemiparesis and dysphasia.	has_symptom
+a5a0516d5a8eef0ea9caaad762911077cd42bf68	A 54 year-old man, who had a hereditary hemorrhagic telangiectasia (@DISEASE$; O-W-R) accompanied by pulmonary arteriovenous fistulas (PAVFs) and @PHENOTYPICFEATURE$, developed seizure, right hemiparesis and dysphasia.	false
+c46dd1c3c36245475ca2a3b48c45d8a3febe2a0a	A 54 year-old man, who had a hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease; O-W-R) accompanied by pulmonary arteriovenous fistulas (PAVFs) and @PHENOTYPICFEATURE$, developed seizure, right hemiparesis and @DISEASE$.	false
+250b18d34502737bcfd4b7a4f102cd808ded8d14	A 54 year-old man, who had a @DISEASE$ (Osler-Weber-Rendu disease; O-W-R) accompanied by pulmonary arteriovenous fistulas (PAVFs) and @PHENOTYPICFEATURE$, developed seizure, right hemiparesis and dysphasia.	false
+e43de29b1d247a7578ae943fdc54a1f93dbcb7f4	A 54 year-old man, who had a hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease; O-W-R) accompanied by pulmonary arteriovenous fistulas (PAVFs) and @PHENOTYPICFEATURE$, developed @DISEASE$, right hemiparesis and dysphasia.	false
+3fcc94b694c274d8899d454ab9a064e6751158e9	[Autonomic @PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+dd302b2e5164adb9436ee4c95829b3ea605717b0	@DISEASE$ is characterized by intellectual disability, @PHENOTYPICFEATURE$ in childhood and typical facial features.	has_symptom
+1c6a801b80db1109b7877efa45290e82bb7ae22c	Kleefstra syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$ in childhood and typical facial features.	false
+4483f0ff89ff9c5a3d35b3ffeb8997cfb90fdb32	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, muscular hypotonia in childhood and typical facial features.	false
+ff89e1ee80d80e9853c3ad86a6ffdc6e7d87f7dc	Fetal @PHENOTYPICFEATURE$, cholestasis, anemia, elevation of inflammatory markers in her neonatal period are considered to be complications of @DISEASE$.	has_symptom
+faac58b1a8837f893a0cc409fc935777c7572155	In those patients, airway compromise may be related to @DISEASE$ cervical @PHENOTYPICFEATURE$ or hematoma.	has_symptom
+d481161cfabb008a6e3bc8cb74dc04d4930cbde9	Mutations in IFT172 cause isolated @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+96d9ffa4d485e90b22f36fae65bc07f55dfe01db	Bardet-Biedl syndrome (@DISEASE$), a ciliopathy, is a rare genetic condition characterised by @PHENOTYPICFEATURE$, obesity, kidney failure, and cognitive impairment.	has_symptom
+70ced572c21e3a5e42a58eeae7cc9aeabf8fe1f0	@DISEASE$ (BBS), a ciliopathy, is a rare genetic condition characterised by @PHENOTYPICFEATURE$, obesity, kidney failure, and cognitive impairment.	has_symptom
+f6063587c252fce42286d83dd40e697472d9a860	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by @DISEASE$, obesity, kidney failure, and @PHENOTYPICFEATURE$.	false
+d6a5e4c1d27e2d06e90c3d03fd6dd262bf709aec	@DISEASE$ (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, kidney failure, and cognitive impairment.	false
+c51d03102a4e4a2cf55e17773a886ece01f4adc9	Bardet-Biedl syndrome (@DISEASE$), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, kidney failure, and cognitive impairment.	false
+c53df5748592e97b695c678350f00e43b9ebc35f	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by @DISEASE$, @PHENOTYPICFEATURE$, kidney failure, and cognitive impairment.	false
+c02fcc472fa43b8310e8843d330edf0306f693dc	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, @PHENOTYPICFEATURE$, @DISEASE$, and cognitive impairment.	false
+7d005b814d1ee771f44119cb7b4a02f83a05c549	Bardet-Biedl syndrome (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a1b282bfc92885d4ede168a95b02f27b314fc8a3	@DISEASE$ (BBS), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and @PHENOTYPICFEATURE$.	false
+7c84d96247ecfd23ef44ed731bfe995d2240a7e6	Bardet-Biedl syndrome (@DISEASE$), a ciliopathy, is a rare genetic condition characterised by retinal degeneration, obesity, kidney failure, and @PHENOTYPICFEATURE$.	false
+4e7216e3870da9ca0352d42bedf192ed43f327ac	Bardet-Biedl Syndrome (@DISEASE$) is a genetically heterogeneous ciliopathy with clinical cardinal features including @PHENOTYPICFEATURE$, obesity and renal dysfunction.	has_symptom
+0471c77dab363173699a0b1f272eab867dce84fb	@DISEASE$ (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including @PHENOTYPICFEATURE$, obesity and renal dysfunction.	has_symptom
+5357faf96108128fc6c44bb3e5890e9e5bbbba8c	Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including @DISEASE$, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+f6eb64a200a701e1dd11254be27d59d6ca8dbe0d	@DISEASE$ (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including retinal degeneration, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+20375dcd85e154c7ca7e30633eac9e4c0f597ef8	Bardet-Biedl Syndrome (@DISEASE$) is a genetically heterogeneous ciliopathy with clinical cardinal features including retinal degeneration, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+c55dea83f5a72ac158958de0984a67ec33d4bac8	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, @PHENOTYPICFEATURE$, polydactyly, hypogenitalism and renal defects.	has_symptom
+3e24fc0b1e9dceeeada24f3273b2a44be0161853	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, @PHENOTYPICFEATURE$, polydactyly, hypogenitalism and renal defects.	has_symptom
+92608c21bba94eafc5542683c7c392df545d24b5	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, retinal degeneration, polydactyly, hypogenitalism and renal defects.	false
+390617557fd887e84d8d6c9ceadc463b160d3fdb	@DISEASE$ (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, @PHENOTYPICFEATURE$, hypogenitalism and renal defects.	false
+ae5260b5c1676c3aa24b3f2c157d0fdc1397db50	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, hypogenitalism and renal defects.	false
+6a3339ba610fce99a46daf7016f78bef01931381	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal degeneration, @PHENOTYPICFEATURE$, hypogenitalism and renal defects.	false
+d97c3285d377e86157c1ce220ba2e858977dec34	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism and renal defects.	false
+f6addf1e2c5c516a1a8ee9913fb711284f2f1142	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, retinal degeneration, polydactyly, hypogenitalism and renal defects.	false
+b2837df04272bc4cea0669273819c2d48c953bec	Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (@DISEASE$), a genetic disorder whose symptoms include obesity, @PHENOTYPICFEATURE$, and nephropathy.	has_symptom
+2df0a48808123e9755ea81824547603e272a2e0d	Primary cilium dysfunction underlies the pathogenesis of @DISEASE$ (BBS), a genetic disorder whose symptoms include obesity, @PHENOTYPICFEATURE$, and nephropathy.	has_symptom
+d61aac58847c0fe5daeb3bb3f29ebbc64f4f3b72	Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder whose symptoms include @PHENOTYPICFEATURE$, @DISEASE$, and nephropathy.	false
+e20f85a60030f0fbb4e93ba6eaf6ea99a6de9053	Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (@DISEASE$), a genetic disorder whose symptoms include @PHENOTYPICFEATURE$, retinal degeneration, and nephropathy.	false
+4e447173275e6a6d4e5e2aaedab2c2f68ded37b9	Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder whose symptoms include @PHENOTYPICFEATURE$, retinal degeneration, and @DISEASE$.	false
+d4895e075a209d6a6b8aa4db9ea1158e56d390ed	Primary cilium dysfunction underlies the pathogenesis of @DISEASE$ (BBS), a genetic disorder whose symptoms include @PHENOTYPICFEATURE$, retinal degeneration, and nephropathy.	false
+a579ad658edf047774af50e5e9555cb6eb60d3c7	Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a @DISEASE$ whose symptoms include @PHENOTYPICFEATURE$, retinal degeneration, and nephropathy.	false
+5d963951151a2e4a0e7aca7bc71242fe968db404	Bardet-Biedl syndrome (@DISEASE$) is a syndromic form of @PHENOTYPICFEATURE$.	has_symptom
+1f00307170cf85b988bb47b0e51b0c7e523e1e03	@DISEASE$ (BBS) is a syndromic form of @PHENOTYPICFEATURE$.	has_symptom
+b4b5d7d3d80cd440d1439b8e83773734dd0a8362	Bardet-Biedl syndrome (@DISEASE$) is a human genetic disorder resulting in obesity, @PHENOTYPICFEATURE$, polydactyly, and nephropathy.	has_symptom
+dc03080d3865d68808b0bb544ad6abc4aba9e69e	@DISEASE$ (BBS) is a human genetic disorder resulting in obesity, @PHENOTYPICFEATURE$, polydactyly, and nephropathy.	has_symptom
+0be62226592926d07810c1010ff9c5b57a6d9f80	Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in obesity, @DISEASE$, @PHENOTYPICFEATURE$, and nephropathy.	false
+9c97309feced14b6b7579ceac193744287258023	Bardet-Biedl syndrome (BBS) is a human @DISEASE$ resulting in obesity, retinal degeneration, @PHENOTYPICFEATURE$, and nephropathy.	false
+0f974fd80b569f6df7cced3178419e96a75e6f51	Bardet-Biedl syndrome (BBS) is a human @DISEASE$ resulting in @PHENOTYPICFEATURE$, retinal degeneration, polydactyly, and nephropathy.	false
+4ca5ac3aef8b4073045b5cda88f20448a5a0125b	Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in obesity, retinal degeneration, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9f151e0e10b24ffc2fb22d23c7d071a9ab0c65fd	@DISEASE$ (BBS) is a human genetic disorder resulting in @PHENOTYPICFEATURE$, retinal degeneration, polydactyly, and nephropathy.	false
+e5a3d4821358a763e711b717dbe05995773f3682	@DISEASE$ (BBS) is a human genetic disorder resulting in obesity, retinal degeneration, @PHENOTYPICFEATURE$, and nephropathy.	false
+618a0900cb41139544f9afddee95ae1bdb170222	Bardet-Biedl syndrome (@DISEASE$) is a human genetic disorder resulting in obesity, retinal degeneration, @PHENOTYPICFEATURE$, and nephropathy.	false
+638ee651318d8c018ba5f2a412d53bd81a3ed908	Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, and nephropathy.	false
+aeab1308d03724bafc3d39470d5c49959b6394db	Bardet-Biedl syndrome (@DISEASE$) is a human genetic disorder resulting in @PHENOTYPICFEATURE$, retinal degeneration, polydactyly, and nephropathy.	false
+a830a215041d615f53d75f91c52d5b2851a47d83	Bardet-Biedl syndrome (BBS) is a human genetic disorder resulting in @PHENOTYPICFEATURE$, retinal degeneration, polydactyly, and @DISEASE$.	false
+a9b3d63bbc16905d9d9c1c5dbae5d878a4c2dc87	Bardet-Biedl syndrome (@DISEASE$) is an oligogenic syndrome whose manifestations include @PHENOTYPICFEATURE$, renal abnormalities, obesity and polydactylia.	has_symptom
+008f7e10051d60351c998510d0450b68ea5fd894	@DISEASE$ (BBS) is an oligogenic syndrome whose manifestations include @PHENOTYPICFEATURE$, renal abnormalities, obesity and polydactylia.	has_symptom
+2634fe869d7e728013b674365501ce0af8354506	Bardet-Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+70ac419057ac37f02cc2836450d1703214a3af23	@DISEASE$ (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, @PHENOTYPICFEATURE$ and polydactylia.	false
+7a130af88e9fc5c6298f8ba56296ef97f15890b7	Bardet-Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include @DISEASE$, renal abnormalities, @PHENOTYPICFEATURE$ and polydactylia.	false
+7e9fe97aee20eef9d530ba5954ad84064fa1f4f2	Bardet-Biedl syndrome (@DISEASE$) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, @PHENOTYPICFEATURE$ and polydactylia.	false
+805609d774ac2a839346e778735c255159545b8b	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by @PHENOTYPICFEATURE$, obesity, polydactyly, renal disease and mental retardation.	has_symptom
+cd2d8bb696bf854571faf295fe8cc53df923fd19	@DISEASE$ (BBS) is a ciliopathy characterized by @PHENOTYPICFEATURE$, obesity, polydactyly, renal disease and mental retardation.	has_symptom
+581068118e635228f6b64a366f95a8be363dd1cd	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, renal disease and mental retardation.	false
+5bba5a8bc14b30c64212132b337923c01346e98a	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+1e83e9f7cbc672bfe6bc0684fe58e2df40b7a908	@DISEASE$ (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and @PHENOTYPICFEATURE$.	false
+ef264644986046e5e21a5061ca3d97173be7da41	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8e9506cf81f1a073e350a26627d448144d895b1a	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and @PHENOTYPICFEATURE$.	false
+320b2884b502fc7fd96053dea4e65f8b745bd033	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, renal disease and mental retardation.	false
+3dab2a3beada4a98508f9e8c7d6f5e374c56438f	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, renal disease and mental retardation.	false
+ee271b3dfc45f23537dd7432df1e75e7a2e3ecc7	@DISEASE$ (BBS) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, renal disease and mental retardation.	false
+569005cd9d2e6b4bdd230e37cf0c4c2d522926f6	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by @DISEASE$, obesity, @PHENOTYPICFEATURE$, renal disease and mental retardation.	false
+c18b7bf4f97d7f91e9cdaf45dc949df5ea209a7f	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$ and mental retardation.	false
+51b5b1228219f17f54f4261519e8ed933c547506	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by @DISEASE$, obesity, polydactyly, renal disease and @PHENOTYPICFEATURE$.	false
+659ea6ef472af2de8ef1477a25df566dc2c0d555	@DISEASE$ (BBS) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, renal disease and mental retardation.	false
+3be5e24f7d9741d77f5b98e47258694300d346bd	@DISEASE$ (BBS) is a hereditary disorder whose symptoms include obesity, @PHENOTYPICFEATURE$, and kidney cysts.	has_symptom
+7bdd7ddae499d711580120a201681014ac76f93c	Bardet-Biedl syndrome (@DISEASE$) is a hereditary disorder whose symptoms include obesity, @PHENOTYPICFEATURE$, and kidney cysts.	has_symptom
+ce4b3a8deba36dc5cbaa0b4491d00a4fef42ecb2	@DISEASE$ (BBS) is a hereditary disorder whose symptoms include obesity, retinal degeneration, and @PHENOTYPICFEATURE$.	false
+131ec6d652eab3092cd670e2574ee3f8b4517329	Bardet-Biedl syndrome (@DISEASE$) is a hereditary disorder whose symptoms include @PHENOTYPICFEATURE$, retinal degeneration, and kidney cysts.	false
+06bf3da0f18d99648313eab73fb795d68cb9eeb8	Bardet-Biedl syndrome (BBS) is a hereditary disorder whose symptoms include obesity, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9b20e863f46bc2f136384c73db2b85491aaebeb2	Bardet-Biedl syndrome (@DISEASE$) is a hereditary disorder whose symptoms include obesity, retinal degeneration, and @PHENOTYPICFEATURE$.	false
+d450cace668fdc253dcc4f1d4cec3425906e7fd6	@DISEASE$ (BBS) is a hereditary disorder whose symptoms include @PHENOTYPICFEATURE$, retinal degeneration, and kidney cysts.	false
+5652ecd14482b231c3c449a7162dc3e741a57538	Bardet-Biedl syndrome (BBS) is a hereditary disorder whose symptoms include @PHENOTYPICFEATURE$, @DISEASE$, and kidney cysts.	false
+5916a2c0e9f657244a6879971c2974b1a0c2f36c	This study not only extended the clinical and mutation spectrum of SLC29A3 in @DISEASE$, but also showed that short children should be assessed according to the guidelines for @PHENOTYPICFEATURE$ in children.	has_symptom
+4cfb528e95768d2aded406430ae3d0f350f4d5af	The @DISEASE$ (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, hypertrichosis, histiocytosis and @PHENOTYPICFEATURE$.	has_symptom
+3069ec5bd575817c491389c84ddd7b63760cfe87	The @DISEASE$ (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, @PHENOTYPICFEATURE$, histiocytosis and short stature.	false
+be322674cffbef1f74aa4f2359962bf67d697a20	The H syndrome (OMIM 612391) is an autosomal recessive disorder characterized by hyperpigmentation, @PHENOTYPICFEATURE$, histiocytosis and @DISEASE$.	false
+755bd8bf7d2b6828300508378b5d55a214af7acd	@PHENOTYPICFEATURE$ and diabetes mellitus are the major endocrine problems related to @DISEASE$, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature.	has_symptom
+ba56514d4ed3e5458f6d39d2c97154049ff46c2d	@PHENOTYPICFEATURE$ and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of @DISEASE$ patients is lacking in the literature.	has_symptom
+d1c732f95273c061ff772419f5929c06f26eda17	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	has_symptom
+a55c48f75114b82fa9e3510a8927ef53b3275506	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+1305cddc801aa0163da657feb06f5bad243b7cbe	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @DISEASE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+640518f044e39af501ed73a0aa50240cd6349498	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+d4d737ed5564a3e284aabb55f78f9752841695ee	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+a7007bc5185ed95324a564d6dc7eb64b4c9fba7c	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+017f0a85ddbb8fadc3a7584c32e2507635a606c1	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @DISEASE$, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+a5c894ba2a0531a17f4df6bd30478393bbc102bc	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @DISEASE$, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+7c27dafab774a8eed74b0e4ac50b628b00e9a0fd	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+5fa4b4a5db96ba10a97c7835a79cc4cb40b0ca7f	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+8dc7d314dd2741902fb8e3ad3b08161e6431e618	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+afa9dc16dd922a80ebf956ea9b3ab665e1b14f63	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+f42b6b25d46ec45f1dcebcd42c466c00d0df4538	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+a5dc2de2f8834d7ef9ba4be3902d6d4a022f7bd7	The patients share many of the characteristics previously reported with @DISEASE$, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	has_symptom
+d8f1238e4b1e33b93cde0f3edb79f7782d280086	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, @DISEASE$ and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+7be7b88f2440f4d23e59217ae7a08a7ad3abfe66	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including @DISEASE$ and autoimmune hepatitis.	false
+60fc2ac30694393d81d87cbff5f1267d71ca0a9f	The patients share many of the characteristics previously reported with @DISEASE$, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+ee5a5c271c2bbf48e535a392685961fa66f58553	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and @DISEASE$.	false
+dcaf9ac7b09500f7fa1fc4adc0751f8f86f04674	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, @DISEASE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+1122e57af984d664ba645768a6b3518f7b441e98	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, @DISEASE$, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis.	false
+39085350ac537b4a3471d35b71b18761812240ea	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @PHENOTYPICFEATURE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	has_symptom
+a1d3e6d4b8aff52f727c6a06fffda2df811da856	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+34c4ec8e245b2c5b659285557d1258fdab8bcb95	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @DISEASE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+33929411bc977ef8f4a26f108d7380b62e9f029a	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+260ca1f2b89c5324d87cf5b0164dd55a01e4c612	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/@DISEASE$, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+4131b06b5f1d66fc489a0b76b620e99089da34b4	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+55eb45e9d1c8d9c267ec463186c2d24828fbd94d	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+dd076d1bd5f0d0c124a3bd5fc4633800681b968d	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, @DISEASE$, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+88e0bf9abdbcfc2f6cc2d754c497bb589b49d45b	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, @DISEASE$ (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+b0aa81f1dc7f9d547481538c797d07ebcfe14012	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/@DISEASE$, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+93eb5d148be61c6b86f5a99db14c945dd0ab5e56	The @DISEASE$ (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+00a90b5126fe8d2882e5981d2b378d5914e4a396	@PHENOTYPICFEATURE$ in @DISEASE$ patients may not respond to GH replacement or gluten-free diet alone.	has_symptom
+208250ff867f6f216777d2ef855b60226d135054	Among these include @DISEASE$, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by @PHENOTYPICFEATURE$, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	has_symptom
+92ca1e6579ff601b1288b9bf8f04611d67094cc1	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and @DISEASE$ (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+e289143b33ee455f5e63a3596cf8257feb0962df	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes @DISEASE$, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+8bdfee61dbb3e6598377f532e5eacfda53be75fc	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, @DISEASE$ hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+9bd50b32b1ae304ad0f274f0e012836b429f229a	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial @DISEASE$, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+a5de720b26ec0782b6ba8d716e6ca20ec4c8c7d7	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, @DISEASE$ hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+48eacfbd8729bb0078a9731153e46299068464f2	Among these include @DISEASE$, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+4dea937845c5fa917fc1d15bc242ad9c8ed5a486	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative @DISEASE$ and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+2676ded93fe28e607eac967fe4d9157a7a32c339	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial @DISEASE$, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+a00fe50a1ea0fc8d4ed715ba7132435369702b0d	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and @DISEASE$ (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+b66789b12fff9cb04baa3c9fdd9c15acd1d93d2c	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by @DISEASE$, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+a3555f3d7af0ad8f4937abe75e7c1c8c81be81d7	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with @DISEASE$ syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+7a81809c4fc7833e522d0b7a49b8bd1876ea4a07	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by @DISEASE$, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+9d76efbcb50c5ae10319d11f7cda055f5f85843f	Among these include @DISEASE$, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+0895d08af455518657794460dcb144392d2b263b	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative @DISEASE$ and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+0a3fd2057862e9161d11224cfb23a5fc96e8aca1	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with @DISEASE$ syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+0382b7406e9b1c972a5aaca536907e92f3e5a1a0	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes @DISEASE$, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+3727649248b8874081de581c7acc1547d9a3f39a	In this paper, we reported a case of @DISEASE$ with special reference to the noninvasive diagnosis of @PHENOTYPICFEATURE$.	has_symptom
+fc471b74554e98d08982aeeee4fb7aa840d31164	The 17-week-old fetus had some features of @DISEASE$, notably "hitchhiker thumbs," a @PHENOTYPICFEATURE$, and midfacial flattening.	has_symptom
+4f17f739927a8b1b7da1cc460e96c031033d14b9	We report a male infant with de la Chapelle dysplasia (@DISEASE$), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, @PHENOTYPICFEATURE$ and neonatal death from asphyxia.	has_symptom
+2e4fde2bd5eea477177ff4b4b77e5a67376f7320	We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, @DISEASE$ and neonatal death from asphyxia.	false
+a55002ead13a37ffd6e533862179153a8c92a0cf	We report a male infant with @DISEASE$ (atelosteogenesis type II), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+1f2cfec5f29eb71afe8bd0980943ef10dff9c67d	We report a male infant with de la Chapelle dysplasia (@DISEASE$), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+37aa2c8d42833833fe4d58dcbb47a9afbab2f262	Neurological presentation of @DISEASE$: obstructive @PHENOTYPICFEATURE$ without haematological abnormalities or organomegaly.	has_symptom
+95c2d0e3de9fd09cdf4a29403f7691ba7b2d7bca	Mutations in MKKS cause obesity, @PHENOTYPICFEATURE$ and renal malformations associated with @DISEASE$.	has_symptom
+c947f5abef07dccec00175fa62686fec675165e4	Mutations in MKKS cause @PHENOTYPICFEATURE$, retinal dystrophy and renal malformations associated with @DISEASE$.	false
+e3b7e94ffb0b8f8e3da3ad684da32c01e16113bf	Mutations in MKKS cause obesity, retinal dystrophy and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+ce24aa3fcdb30ed49533c6a61a040739c0f03e6a	Mutations in MKKS cause @PHENOTYPICFEATURE$, @DISEASE$ and renal malformations associated with Bardet-Biedl syndrome.	false
+430ee4ff312e80da46d77ef401ae00f181728ccf	Mutations in MKKS cause obesity, @DISEASE$ and @PHENOTYPICFEATURE$ associated with Bardet-Biedl syndrome.	false
+1e939f29c03c3077afb18289d1db6372244f72c9	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive ciliopathy characterised by @PHENOTYPICFEATURE$, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	has_symptom
+9683d03b0cf2abc74f7d80440cd2f4cbd3c8edf0	@DISEASE$ (BBS) is a rare autosomal recessive ciliopathy characterised by @PHENOTYPICFEATURE$, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	has_symptom
+fd3d5a9e3a612d7d8a5d4a11059ce9ff5fb0b6d9	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial @PHENOTYPICFEATURE$, renal dysfunction, learning difficulties and @DISEASE$.	false
+0f4d055f6ac353bd1a0f714ccde584d9bffee281	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial @PHENOTYPICFEATURE$, renal dysfunction, learning difficulties and hypogonadism.	false
+64ceb4cca213a9c350958374407341ff79c39024	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive @DISEASE$ characterised by retinal dystrophy, obesity, post-axial @PHENOTYPICFEATURE$, renal dysfunction, learning difficulties and hypogonadism.	false
+74c295f96d586a7edea2f52ebfb31c98f5addb90	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, @PHENOTYPICFEATURE$, post-axial polydactyly, renal dysfunction, learning difficulties and @DISEASE$.	false
+ca8c49d48ae6459564a603e59cc6e1ea6c38192f	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by @DISEASE$, @PHENOTYPICFEATURE$, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	false
+08e2e6ff7a1610c67a3b2816fba4dd187690c909	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, @PHENOTYPICFEATURE$, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	false
+46bfdc77139f05740be81fee9ef4c4984d1319c1	@DISEASE$ (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, @PHENOTYPICFEATURE$, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	false
+daa74f0f79a7bcbda1d47f1faecfb25644226576	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by @DISEASE$, obesity, post-axial @PHENOTYPICFEATURE$, renal dysfunction, learning difficulties and hypogonadism.	false
+cd053eddbe1565a7539f7badc6dc52ceaab377d9	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive @DISEASE$ characterised by retinal dystrophy, @PHENOTYPICFEATURE$, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	false
+e047e83390d839b1f1e2c57c396b7b422f8a69e0	@DISEASE$ (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial @PHENOTYPICFEATURE$, renal dysfunction, learning difficulties and hypogonadism.	false
+68d01c80d7ad9d5460dbd42557d668c943b84d0a	@DISEASE$ (BBS) is a rarely seen autosomal recessive transfer disease characterised by @PHENOTYPICFEATURE$, obesity, extremity deformities, mental retardation, and renal and genital system anomalies.	has_symptom
+71e7001437aa98fcc3406579516e1a6bcf782af9	Bardet-Biedl Syndrome (@DISEASE$) is a rarely seen autosomal recessive transfer disease characterised by @PHENOTYPICFEATURE$, obesity, extremity deformities, mental retardation, and renal and genital system anomalies.	has_symptom
+79900cfc39e64cafb8ccb755c04c63f7be38c3ca	Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by @DISEASE$, obesity, extremity deformities, @PHENOTYPICFEATURE$, and renal and genital system anomalies.	false
+d8122a9efecf8d1eaf311002ddeed7b6ae2f34fd	@DISEASE$ (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, @PHENOTYPICFEATURE$, and renal and genital system anomalies.	false
+a23fa3785c71396f4a7d6b13f4e9b3629e818054	Bardet-Biedl Syndrome (@DISEASE$) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, @PHENOTYPICFEATURE$, extremity deformities, mental retardation, and renal and genital system anomalies.	false
+8f42d014adc53ff9ff30c39a1c9ed4b7ad43e505	@DISEASE$ (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, @PHENOTYPICFEATURE$, extremity deformities, mental retardation, and renal and genital system anomalies.	false
+71ad9f501a79083a1a22d753597b6bef98244897	Bardet-Biedl Syndrome (@DISEASE$) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, @PHENOTYPICFEATURE$, and renal and genital system anomalies.	false
+1f669b72e5f9dd271f32add25b330e69d1351ca9	Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by @DISEASE$, @PHENOTYPICFEATURE$, extremity deformities, mental retardation, and renal and genital system anomalies.	false
+fe7c930b1ee37908f5c1cae81eba6cfa278c1e86	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, polydactily, obesity and slow mental development.	has_symptom
+2fa2a91b0884c2101a8efc85fe5bd856b9b5bedd	@DISEASE$ is characterised by retinal dystrophy, polydactily, @PHENOTYPICFEATURE$ and slow mental development.	false
+9a11e4266c0d07fc662b7ab6fc9abf6ceb36bc39	Bardet-Biedl syndrome is characterised by @DISEASE$, polydactily, @PHENOTYPICFEATURE$ and slow mental development.	false
+0e6ba6b2f028e70acd768dd0e645bb6783a7f590	@DISEASE$ (BBS) is an emblematic ciliopathy associated with @PHENOTYPICFEATURE$, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction.	has_symptom
+941326a70a71fe2b50b3f222a570b437f72219ea	Bardet-Biedl syndrome (@DISEASE$) is an emblematic ciliopathy associated with @PHENOTYPICFEATURE$, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction.	has_symptom
+a3dc52f2f1d4ca7b5f611e826588dc7007fe6d5a	@DISEASE$ (BBS) is an emblematic ciliopathy associated with retinal dystrophy, @PHENOTYPICFEATURE$, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction.	false
+bca2d007cfaf5bd4c136e96a8d6ff88662b3c6e3	Bardet-Biedl syndrome (@DISEASE$) is an emblematic ciliopathy associated with retinal dystrophy, @PHENOTYPICFEATURE$, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction.	false
+48905b624b0681184c5bec3103988f3250ddb837	Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with @DISEASE$, @PHENOTYPICFEATURE$, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction.	false
+45464f799666911bd5492ccfbcbc0b81ac781410	Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, @PHENOTYPICFEATURE$, postaxial polydactyly, learning disabilities, @DISEASE$ and renal dysfunction.	false
+95c2d0e3de9fd09cdf4a29403f7691ba7b2d7bca	Mutations in MKKS cause obesity, @PHENOTYPICFEATURE$ and renal malformations associated with @DISEASE$.	has_symptom
+c947f5abef07dccec00175fa62686fec675165e4	Mutations in MKKS cause @PHENOTYPICFEATURE$, retinal dystrophy and renal malformations associated with @DISEASE$.	false
+e3b7e94ffb0b8f8e3da3ad684da32c01e16113bf	Mutations in MKKS cause obesity, retinal dystrophy and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+ce24aa3fcdb30ed49533c6a61a040739c0f03e6a	Mutations in MKKS cause @PHENOTYPICFEATURE$, @DISEASE$ and renal malformations associated with Bardet-Biedl syndrome.	false
+430ee4ff312e80da46d77ef401ae00f181728ccf	Mutations in MKKS cause obesity, @DISEASE$ and @PHENOTYPICFEATURE$ associated with Bardet-Biedl syndrome.	false
+f6e937a0a87f69ec883eb4c4c9b086dc5e042db3	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	has_symptom
+e678631a371bf0da2072ee18c98a8565db36a39a	Bardet-Biedl syndrome (@DISEASE$) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	has_symptom
+9ce57a5090cf7276232a6f48049fbcaf71341ef4	@DISEASE$ (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	has_symptom
+bcfde3705f46a1b058aa39f5c3937db2ac69ce66	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (@DISEASE$) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+1d053ffbcd204772f5b351e47e90334d74463f2b	Bardet-Biedl syndrome (@DISEASE$) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+e6c9dba5fc49b0894df179b80b2c92c6deae8c5e	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+a4760bcb867adafab4a5bd5c1d99779836f3e8a7	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes @DISEASE$, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+78ae333384d29bad114764edfb0b2f481cbdda0a	@DISEASE$ (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+748afd3598413799e971a1a544e7725b14706dbc	 in patients diagnosed with congenital or age-related @DISEASE$ yielded one homozygous single nucleotide deletion segregating in a family with @PHENOTYPICFEATURE$.	has_symptom
+cb918c0eb86bba8bffb2c7d6559f30ec25302642	@DISEASE$ is a disorder inherited autosomal recessively showing evidence of hearing loss and @PHENOTYPICFEATURE$ in addition to seizures, hypotonia, and ataxia.	has_symptom
+1d44097a6d56cbe9c43cf03e3e826f1eec820a19	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of @DISEASE$ and optic atrophy in addition to seizures, hypotonia, and @PHENOTYPICFEATURE$.	false
+47181d21980bca9cfc7c8b6cda3f862ebbaeaf98	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and @DISEASE$ in addition to @PHENOTYPICFEATURE$, hypotonia, and ataxia.	false
+c766c64ef6b211cf1bcc89311b1237cd4cb4e1d5	@DISEASE$ is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and @PHENOTYPICFEATURE$.	false
+a15bec4a3e96cf0480c3d3d5e8d9a54dc9b784df	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and @DISEASE$ in addition to seizures, hypotonia, and @PHENOTYPICFEATURE$.	false
+f7bbcf32f092a533eb77ee19bdceb067cbe6259c	@DISEASE$ is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to @PHENOTYPICFEATURE$, hypotonia, and ataxia.	false
+10d60ce8ae62609c57ffd0fd082ac1ed120b5e66	Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of @DISEASE$ and optic atrophy in addition to @PHENOTYPICFEATURE$, hypotonia, and ataxia.	false
+f7a000a33d3c2b144a673bb1fdf948af7875211c	Comment on: Childhood @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+28099cd21718a1fc26e45485a0562a33e8a2ad24	@DISEASE$, caused by Streptobacillus moniliformis, is a systemic illness classically characterized by @PHENOTYPICFEATURE$, rigors, and polyarthralgias.	has_symptom
+12a8bd391a80972d5b33229b7c2de24cd5bf895d	@DISEASE$ (CTD) is an example of X-linked @PHENOTYPICFEATURE$ syndromes, caused by mutations in SLC6A8 on Xq28.	has_symptom
+517472442302e80082aea8f7f5365966f34be40f	@DISEASE$ is an X-linked @PHENOTYPICFEATURE$ disorder caused by mutations in the creatine transporter gene, SLC6A8.	has_symptom
+e0a33ea86882f52f6a7070e35395921b701c0a5b	The diagnosis of X-linked @PHENOTYPICFEATURE$ caused by the @DISEASE$ can be independently established by 1H MR spectroscopy.	has_symptom
+a07b67518ac6faf0abda197bbb1ad8956b9c36d9	@DISEASE$ is an X-linked @PHENOTYPICFEATURE$ disorder caused by mutations in the creatine transporter gene (SLC6A8).	has_symptom
+41263c99b13baa7616e43627d513fcfa889303ba	@DISEASE$ could be an underdiagnosed metabolic disorder and should be considered in adult patients with @PHENOTYPICFEATURE$.	has_symptom
+21e95c6ea92d62436f5d2b027b8d5a8198e76437	Cerebral @DISEASE$, attributable to mutations in the SLC6A8 gene, causes X-linked @PHENOTYPICFEATURE$, language delay, epilepsy, and autistic features.	has_symptom
+f6ad53245d6e394d63e69a10c36a64e0d1b17126	Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, and autistic features.	false
+ed8cb65fbe22469930c6689f97308da3934d0fd5	Cerebral @DISEASE$, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, @PHENOTYPICFEATURE$, epilepsy, and autistic features.	false
+8e87e6b6f4a4dd19b44380a3f23945669ec60bea	@DISEASE$ (CTD) is an X-linked, neurometabolic disorder associated with @PHENOTYPICFEATURE$ that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene.	has_symptom
+427b1ccf2c6780555123655325198e532de89d97	@DISEASE$: prevalence among patients with @PHENOTYPICFEATURE$ and pitfalls in metabolite screening.	has_symptom
+582bd708fb7d2bb4b4ebe59cfb6d680165d4f3f3	The screening of @DISEASE$ among Estonian families with X-linked @PHENOTYPICFEATURE$.	has_symptom
+94368e824f1a8f15dc5b64a0c87f6ea9e88ddaf8	@DISEASE$ is an X-linked disorder characterized by @PHENOTYPICFEATURE$ and language delay.	has_symptom
+8c70685fe3ad538ab35bed593260edc31bd98e83	Because these families were mapped to the same locus as @DISEASE$ (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and @PHENOTYPICFEATURE$ (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	has_symptom
+653c190c00f8d5f32652f147b44c2e973f59fab6	Because these families were mapped to the same locus as leukodystrophy with oligodontia (LO) and presented clinical and radiological overlap with individuals with hypomyelination, @PHENOTYPICFEATURE$ and @DISEASE$ (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	false
+314cfcecb7870bca44646b6c209c7ee7dc171a5e	Because these families were mapped to the same locus as @DISEASE$ (LO) and presented clinical and radiological overlap with individuals with hypomyelination, @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	has_symptom
+ebacb2e0dd4b5f5303af70cdd63074c1081c0758	We report on 2 children with Townes-Brocks syndrome (@DISEASE$) and @PHENOTYPICFEATURE$.	has_symptom
+5308fd4d74e1fe4e28e609317360a9d927d5ca5d	We report on 2 children with @DISEASE$ (TBS) and @PHENOTYPICFEATURE$.	has_symptom
+bfa0d23b149e75e5fef3317a0cb1b7796063ff9d	@DISEASE$ is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes @PHENOTYPICFEATURE$.	has_symptom
+64ccf20a9c59912a7898d0dc0107e93554f64ed7	@DISEASE$ is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+8176caf59e003f71747892f094a65cbda15ad057	Townes Brocks syndrome is an autosomal dominant multiple @DISEASE$ comprising of @PHENOTYPICFEATURE$/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes mental retardation.	false
+a6832c896ee8c1ea8978f7bc33294386f035340b	Townes Brocks syndrome is an autosomal dominant multiple @DISEASE$ comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+ba3f052aa401b27281ee7212fd67ae6f9f6219e5	Townes Brocks syndrome is an autosomal dominant multiple malformations syndrome comprising of @PHENOTYPICFEATURE$/@DISEASE$, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes mental retardation.	false
+ad4749435ef7c732ad63bd478600f53c9390b45d	Townes Brocks syndrome is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, @PHENOTYPICFEATURE$ and sometimes @DISEASE$.	false
+9ecefaf87ea756228aca070dbab477e16500ceab	Townes Brocks syndrome is an autosomal dominant multiple malformations syndrome comprising of @PHENOTYPICFEATURE$/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes @DISEASE$.	false
+c13d9014e3c5c4803cbe61ddeb997a861dbc8e7e	@DISEASE$ is an autosomal dominant multiple malformations syndrome comprising of @PHENOTYPICFEATURE$/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes mental retardation.	false
+5b88cfd60dfaabd16e48fabb70ad37b4a9f29aab	Townes Brocks syndrome is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/@DISEASE$, limb defects, anal, genitourinary, eye, spine anomalies, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+ad621230094cf05e4181680462dd22eafd7c8013	These cases suggest that there may be an increased incidence of @PHENOTYPICFEATURE$ in individuals with @DISEASE$.	has_symptom
+ab41d28e5d469a8c796ba9937d65af163229df5c	Most patients with @DISEASE$ have normal intelligence, although @PHENOTYPICFEATURE$ has been noted in a few.	has_symptom
+8fe2d622c0efdd7f34685436233187a13bbfe557	@DISEASE$ of psychomotor retardation, @PHENOTYPICFEATURE$, defective neutrophil motility, and Bombay phenotype.	has_symptom
+bf8feed36a20c934e8412071c5b49ea7e7f4799c	This patient presents the clinical features of leukocyte adhesion deficiency type II (@DISEASE$) including mental retardation, @PHENOTYPICFEATURE$, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	has_symptom
+d738ed3e213a7295ff0a1e9af332d308147a65dc	This patient presents the clinical features of @DISEASE$ (LAD II) including mental retardation, @PHENOTYPICFEATURE$, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	has_symptom
+e1aae9eb935b3e70bd6b9f9043f015f117d84f74	This patient presents the clinical features of @DISEASE$ (LAD II) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+8dfcbd34071aedb1ece6afeb85c6465d63673f2b	This patient presents the clinical features of leukocyte adhesion deficiency type II (LAD II) including @PHENOTYPICFEATURE$, @DISEASE$, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+e46ea082b1f15717731c2a63ed131efd9b6a6b02	This patient presents the clinical features of leukocyte adhesion deficiency type II (LAD II) including @PHENOTYPICFEATURE$, short stature, @DISEASE$ stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+2204e1fbc51680b505a8391a96d72ec7714eac1a	This patient presents the clinical features of leukocyte adhesion deficiency type II (LAD II) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral @DISEASE$ with persistently elevated peripheral leukocytes.	false
+65d18d630f3e221be987db0831ebbc0b393bb337	This patient presents the clinical features of leukocyte adhesion deficiency type II (@DISEASE$) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+7f3e60776a90e86a68efc874564642c209582567	We reviewed the results of intraocular lens (IOL) implantation in the posterior chamber following extracapsular @PHENOTYPICFEATURE$ extraction (ECCE) in 70 cataractous eyes with various types of endogenous uveitis, predominantly acute anterior uveitis, Fuchs' heterochromic cyclitis, @DISEASE$, and Beh?et's disease.	has_symptom
+c7fe1708c19d277b8c9915d1da549db233501994	Elevated serum IL-23 correlates with intraocular inflammation after @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$.	has_symptom
+dd63515036054b5dae51d38b9aa5c92fc78336ae	Patients with @DISEASE$ can have good final outcomes if treated promptly and aggressively and thus avoid complications such as sunset glow fundus, @PHENOTYPICFEATURE$, glaucoma, subretinal fibrosis, and choroidal neovascularization.	has_symptom
+f7ca04d37926f547484fcb2f68b9929ca72c583f	Risk factors for poor visual outcome following @PHENOTYPICFEATURE$ surgery in @DISEASE$.	has_symptom
+70640e1fc66261e1c75ec897d5876f439c3c179a	Inflammatory cataracts secondary to Behcet's disease (BD) or @DISEASE$ (VKH) are thought to result from a pathological dysregulation of cytokines that is different from that of age-related (AR) @PHENOTYPICFEATURE$.	has_symptom
+bdaaf1fe6e85b26dc2e82164fdffde8fff5fad85	Inflammatory @PHENOTYPICFEATURE$ secondary to Behcet's disease (BD) or @DISEASE$ (VKH) are thought to result from a pathological dysregulation of cytokines that is different from that of age-related (AR) cataracts.	has_symptom
+fcc10b1362365dab7be92a2e2448a13519b0e0d5	[Complicated @PHENOTYPICFEATURE$ and secondary glaucoma in the chronic stage of @DISEASE$].	has_symptom
+fb4044338d4f5425151c719488e5fc9fb66f6093	The associated hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ were consistent with the clinical diagnosis of @DISEASE$.	has_symptom
+c52eadc9b08fd9a6dfd2fed9c11a012058614553	The associated @PHENOTYPICFEATURE$ and @DISEASE$ were consistent with the clinical diagnosis of 4H syndrome.	false
+8137d3f5fd84e4f9bec229c1ebdb8fd449d21ed0	The associated @PHENOTYPICFEATURE$ and hypodontia were consistent with the clinical diagnosis of @DISEASE$.	false
+e33ddee5e10847f2c8d255e2bd09ef06832c4828	Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+d91028aeb5b1717687c0a80c6c8790b31fba3a90	Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with @PHENOTYPICFEATURE$ and @DISEASE$ (4H syndrome).	false
+71f3eb79089471ddb4e71e71a4c8aba8728c027d	Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with @PHENOTYPICFEATURE$ and hypodontia (@DISEASE$).	false
+a10625a74ed32fca2f620cd7ceaf1746952538fd	The @DISEASE$ (hypomyelination, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy.	has_symptom
+2d03bb44b4bcee962d419fb1019aac0fc359381d	The @DISEASE$ (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+2531aa624946d3af8684d52e77a1a215248d72ba	The 4H syndrome (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized @DISEASE$.	false
+8e9f94556c3f0dfb8868c5c8253daa949d042555	The 4H syndrome (hypomyelination, @DISEASE$, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+a10625a74ed32fca2f620cd7ceaf1746952538fd	The @DISEASE$ (hypomyelination, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy.	has_symptom
+2d03bb44b4bcee962d419fb1019aac0fc359381d	The @DISEASE$ (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+2531aa624946d3af8684d52e77a1a215248d72ba	The 4H syndrome (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized @DISEASE$.	false
+8e9f94556c3f0dfb8868c5c8253daa949d042555	The 4H syndrome (hypomyelination, @DISEASE$, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+16ffa160884fad054ef2c40bef33ef984af9c50d	MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of @DISEASE$ (hypomyelination, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism).	has_symptom
+b7d3e5703f0ab869cf27cc995cda3452ca505de0	MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of @DISEASE$ (hypomyelination, hypodontia, @PHENOTYPICFEATURE$).	false
+5b1ded9b1341d08abc0ab46c5399dd351f4bbadb	MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, @DISEASE$, @PHENOTYPICFEATURE$).	false
+43bd0bfc42b1ba0c0dc0ff31091ac13e894f4b1d	To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism, the @DISEASE$.	has_symptom
+240fa96419cd47b8bf76d1b99cfdd6f8ca564c3f	To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and @PHENOTYPICFEATURE$, the @DISEASE$.	false
+186533ae6518dd39c273286ff9949849e6562c96	To report one patient with slowly progressive encephalopathy, @PHENOTYPICFEATURE$, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the @DISEASE$.	false
+23ddc1b187e9157dcdf085ec62ea685098a5abe2	To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, @DISEASE$ and @PHENOTYPICFEATURE$, the 4H syndrome.	false
+b5fc92d133b02696f0f3148fc4a5ad19401d35dd	To report one patient with slowly progressive encephalopathy, @PHENOTYPICFEATURE$, central hypomyelination, @DISEASE$ and hypogonadotropic hypogonadism, the 4H syndrome.	false
+4b3b07dc5714629a12db3f5a249c0dae6543f5d9	POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with leukodystrophy disease, also known as @DISEASE$, characterized by congenital Hypomyelination with thinning of the corpus callosum, @PHENOTYPICFEATURE$ and Hypogonadotropic Hypogonadism.	has_symptom
+4bae2c522ae6011b1f8887ac53461335e2ab8d5a	POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with leukodystrophy disease, also known as 4H syndrome, characterized by congenital Hypomyelination with thinning of the corpus callosum, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bde3294ade03c479435d26acd79751ffbdd88bbe	POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with leukodystrophy disease, also known as @DISEASE$, characterized by congenital Hypomyelination with thinning of the corpus callosum, Hypodontia and @PHENOTYPICFEATURE$.	false
+7f19951f447381ae49d166f4a281b6a2a58de400	POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with @DISEASE$ disease, also known as 4H syndrome, characterized by congenital Hypomyelination with thinning of the corpus callosum, Hypodontia and @PHENOTYPICFEATURE$.	false
+caa3d2b8b82d4f9767b8b540456790add276e41e	A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$ (@DISEASE$) plus cataract.	has_symptom
+7c45449e509dfeeb78f41e955b0d5d78cffb5003	A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (@DISEASE$) plus @PHENOTYPICFEATURE$.	false
+32368cb3bc2c0c094738497b20467a11d062e08e	A case with central and peripheral hypomyelination with @PHENOTYPICFEATURE$ and hypodontia (@DISEASE$) plus cataract.	false
+97791c74903b3407ddd394dfe1a9ae98a05d21e8	A case with central and peripheral hypomyelination with @PHENOTYPICFEATURE$ and @DISEASE$ (4H syndrome) plus cataract.	false
+2b45ae2dea3eb43dfdd582fd8ca056dc3e5cabf8	A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and @DISEASE$ (4H syndrome) plus @PHENOTYPICFEATURE$.	false
+5c8f9753b38867dc7f0f1c3992f275466ca63e71	@DISEASE$ (TRPS I) is a rare autosomal dominant disorder clinically characterized by sparse and slow-growing hair, pear-shaped nose, elongated philtrum, @PHENOTYPICFEATURE$, and bone deformities, in particular, cone-shaped epiphyses of the phalanges.	has_symptom
+0b90e1aa30d18ab3dea0e75abe5233ac4abbf0f8	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, @PHENOTYPICFEATURE$, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (@DISEASE$).	has_symptom
+3ca24701c70b1244d60ca83704b051e329bbf746	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, @PHENOTYPICFEATURE$, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (@DISEASE$).	false
+e49df42843ed290de112bf0f51877be46032c02b	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, @PHENOTYPICFEATURE$, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched @DISEASE$, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome).	false
+68f5675b715b703eb66f87fb07d0442e6a68c5df	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, @PHENOTYPICFEATURE$, @DISEASE$, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome).	false
+8cec42fc49d0f5f7cf0284b8c327b60fac386cf7	We report a family in which a @PHENOTYPICFEATURE$, proportionately dwarfed girl had a child from a presumably incestuous mating that had the @DISEASE$, presumed autosomal recessive hydrocephalus (Dandy-Walker type), and homozygosity for an extremely long 9qh+ chromosomal marker.	has_symptom
+6dd3b309771c91791bf5d9b9fb6cf0ffcd4d3c1c	We report a family in which a mentally retarded, proportionately dwarfed girl had a child from a presumably incestuous mating that had the @DISEASE$, presumed autosomal recessive @PHENOTYPICFEATURE$ (Dandy-Walker type), and homozygosity for an extremely long 9qh+ chromosomal marker.	false
+3a4ed872c117e463c73bef5a9b82a9b2b41026f0	We report a family in which a @DISEASE$, proportionately dwarfed girl had a child from a presumably incestuous mating that had the Ellis van-Creveld syndrome, presumed autosomal recessive @PHENOTYPICFEATURE$ (Dandy-Walker type), and homozygosity for an extremely long 9qh+ chromosomal marker.	false
+02b6fb417a766a46aa8d52998c516b32439bef0f	Taenia solium @DISEASE$ is a leading cause of epilepsy and neurological @PHENOTYPICFEATURE$ in the developing world.	has_symptom
+b906bf8942f36b8d0f0c29a5ab660673f174fdc8	The prevalence of systemic @DISEASE$ (MCD) is unknown, and the diagnosis is often elusive because serum and urine markers may become positive only after one of the self-limited, recurrent @PHENOTYPICFEATURE$ episodes.	has_symptom
+4ab6166e3ca405611cbeec102ea8d2fb4930e311	The second case, a 22-years-old man, showed the VIIth, VIIIth, IXth, and Xth cranial nerve palsies with @PHENOTYPICFEATURE$, and he was diagnosed to have cranial nerve palsies associated with @DISEASE$.	has_symptom
+e96b5d18dbff68464c736057f171cf6469c5dbc0	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, @PHENOTYPICFEATURE$, movement and autistic-like behavioural disturbances, language and speech impairment.	has_symptom
+6ca6a438dd524525187e2e99df61f081199f2912	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, @DISEASE$, movement and autistic-like behavioural disturbances, language and @PHENOTYPICFEATURE$.	false
+e21b53ed2c85f9c55879159ed5828b86d7e17d17	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing @PHENOTYPICFEATURE$, seizures, movement and autistic-like behavioural disturbances, language and speech impairment.	false
+0d826b83ae733d66832846cbbe0ede60083ee5e6	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing @PHENOTYPICFEATURE$, @DISEASE$, movement and autistic-like behavioural disturbances, language and speech impairment.	false
+f7ea746b7f6f5b97bea3a8256ec31cf368c97835	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and @PHENOTYPICFEATURE$.	false
+872cb20020e5b8efe38e9922c62d5495e8bc53ba	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked @DISEASE$ characterized by cerebral Cr deficiency causing @PHENOTYPICFEATURE$, seizures, movement and autistic-like behavioural disturbances, language and speech impairment.	false
+2e140b7ef131b1fcb93fe7e1c5fd7839975791bd	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked @DISEASE$ characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and @PHENOTYPICFEATURE$.	false
+e668711c8da5f3ffc6d014a82645113889011fa0	Mutations in creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, @PHENOTYPICFEATURE$, movement and autistic-like behavioral disturbances, language and speech impairment.	has_symptom
+b1c12a09945c752199d53ad576c825223dcc7e08	Mutations in creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, @DISEASE$, movement and autistic-like @PHENOTYPICFEATURE$, language and speech impairment.	false
+b1917625aadd1dd143de936d0877f1cfb70d6978	Mutations in creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, @PHENOTYPICFEATURE$, @DISEASE$, movement and autistic-like behavioral disturbances, language and speech impairment.	false
+4beba7879fbe8830704273b041da22d13a8a038f	Mutations in creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like @PHENOTYPICFEATURE$, language and speech impairment.	false
+a42fd6b17654713d808d253cd270a0136ebf636a	Mutations in creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, @PHENOTYPICFEATURE$, seizures, movement and autistic-like behavioral disturbances, language and speech impairment.	false
+1758f1e5d622ae55f374b76850d7e63b0fea7740	Mutations in creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, @DISEASE$, movement and autistic-like behavioral disturbances, language and @PHENOTYPICFEATURE$.	false
+99d905f54b12638c29e1e3cb9617165fca66a87a	Mutations in creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like behavioral disturbances, language and @PHENOTYPICFEATURE$.	false
+511f29924ec33d1c89684d82bc7ba48724ae8a8f	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, @PHENOTYPICFEATURE$, movement? and behavioral disturbances, language and speech impairment ( OMIM #300352).	has_symptom
+a2a3528762a3e799ca57e0ae2cd0c38205d9867f	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked @DISEASE$ characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement? and behavioral disturbances, language and @PHENOTYPICFEATURE$ ( OMIM #300352).	false
+4bd53f2279671a5a435da96111df3757b791bde2	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing @PHENOTYPICFEATURE$, @DISEASE$, movement? and behavioral disturbances, language and speech impairment ( OMIM #300352).	false
+7e25f36573335d16712f68dcd46b29bee47dbf6d	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, @DISEASE$, movement? and behavioral disturbances, language and @PHENOTYPICFEATURE$ ( OMIM #300352).	false
+a2d579e9a75c489af1ae7e93e417e2082b05f62f	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing @PHENOTYPICFEATURE$, seizures, movement? and behavioral disturbances, language and speech impairment ( OMIM #300352).	false
+be3c00f7c9b3be5f1e495897eb0c016b3efc54f1	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, @DISEASE$, movement? and @PHENOTYPICFEATURE$, language and speech impairment ( OMIM #300352).	false
+383416ab74d0845fd07e2c74382e6f9096ea0bcf	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement? and @PHENOTYPICFEATURE$, language and speech impairment ( OMIM #300352).	false
+d6260d60426f66c4e5005d80d090ed3b0b9aeaac	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked @DISEASE$ characterized by cerebral Cr deficiency causing @PHENOTYPICFEATURE$, seizures, movement? and behavioral disturbances, language and speech impairment ( OMIM #300352).	false
+1e5cf681a4e95e7adcaa2c69c95d73240b5ce0a9	Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked @DISEASE$ characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement? and @PHENOTYPICFEATURE$, language and speech impairment ( OMIM #300352).	false
+16e5cb4651bce1b14c4aba35c84e180c288b2b2c	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement? and behavioral disturbances, language and @PHENOTYPICFEATURE$ ( OMIM #300352).	false
+5239b6d3d9ea84ed469a0f237ac3d04af99855f1	X-linked @DISEASE$ (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, @PHENOTYPICFEATURE$ and behavioral problems.	has_symptom
+45e4331c4cce6e2518814e0ad7cd66f18a1c6064	X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, @PHENOTYPICFEATURE$ speech impairment, @DISEASE$ and behavioral problems.	false
+a187cb1426f385381d4798e3fc470c5daddfc93d	X-linked @DISEASE$ (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, @PHENOTYPICFEATURE$ speech impairment, seizures and behavioral problems.	false
+842dc46958fa246a6684f428fd191904b08187ff	X-linked @DISEASE$ (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe @PHENOTYPICFEATURE$, seizures and behavioral problems.	false
+afd62f7148838ffd2087185109ea292c227e62b7	X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe @PHENOTYPICFEATURE$, @DISEASE$ and behavioral problems.	false
+c112b902865a45a9b715c7e7eca38be734c622cf	@DISEASE$ (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, @PHENOTYPICFEATURE$, and hypotonia in individuals harboring mutations in the SLC6A8 gene.	has_symptom
+11e8974b80765a19c922b13c8c305cd4961c5b39	Creatine transporter deficiency (CTD) is an X-linked inborn @DISEASE$ of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/@PHENOTYPICFEATURE$, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene.	false
+a446e96e82368124fadfc50d4d650c283f6015a2	Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/@PHENOTYPICFEATURE$, (ID), behavioral disturbance, @DISEASE$, and hypotonia in individuals harboring mutations in the SLC6A8 gene.	false
+518fb4d65a5db1864bf981fb323f066d1fc2b290	@DISEASE$ (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/@PHENOTYPICFEATURE$, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene.	false
+62af84dd4a65783550ceca209cbe6f42230c67f8	@DISEASE$ (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and @PHENOTYPICFEATURE$.	has_symptom
+8eba65f541771ac434b0917665969e0ac396eb20	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) @PHENOTYPICFEATURE$, cleft palate and glossoptosis, as @DISEASE$ (four patients) and Moebius syndrome (three patients).	has_symptom
+53f76f190976922f7c71cbd8efe6235db4c6154a	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) micrognathia, @PHENOTYPICFEATURE$ and glossoptosis, as @DISEASE$ (four patients) and Moebius syndrome (three patients).	false
+823a9d7a78eb13a669e76edca1b0b3d01621bf09	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) @DISEASE$, @PHENOTYPICFEATURE$ and glossoptosis, as Hanhart syndrome (four patients) and Moebius syndrome (three patients).	false
+d9181744f6e56feb1f3a8e40553077622aa10ea6	They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) micrognathia, @PHENOTYPICFEATURE$ and glossoptosis, as Hanhart syndrome (four patients) and Moebius @DISEASE$ (three patients).	false
+7f6d085234892d67734bf6ff94f19c03030715fa	Two infants with the @DISEASE$, i.e. @PHENOTYPICFEATURE$, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail.	has_symptom
+3207aec90a52a3e7c1ec48c0dd6f36f121526c96	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	has_symptom
+3cc73fc40f7645c1c2c46f3b7f4704f90822f025	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	has_symptom
+13a8bc3cdf23f63dee297d91595f2c7f87fb7a39	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+0bfd56412b8477b79668414cb4d43497d64f6277	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @DISEASE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+2d30a8db17d4e01e4f094836e60a87288374176b	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the @DISEASE$.	false
+379c0eb86400aeb52334803c4d105309f3e867b3	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @DISEASE$, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+a52b56a484526ce90ac967e9f5110e4140e9f569	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+08c5b59a8dcd58cc2d10e21f5942a843f8bc7f5a	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+d8c2e17c334ae671caa7092fb9e5a741082ce7b4	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+24d816e1a34cbceb4dced7292018a75da59d138e	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+7aa39f22259d8d1163e77385478c506d34479bff	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+f5fac16694fbd159bd1b4885859b3480b507d236	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+65e6ca5b8affeb40b5b94fa381c89fd1b6d30443	Modern management of @PHENOTYPICFEATURE$ and prevention of infection in infancy may improve the survival of patients with @DISEASE$ without the need for heart transplantation.	has_symptom
+102a61d97e53dc12e150403473ee4c345efe0181	A defect in the orthologous human TAZ gene is associated with @DISEASE$, a severe genetic disorder, which may lead to @PHENOTYPICFEATURE$ and death in childhood.	has_symptom
+7c324f4f96cd540ef21cc44f838b3a914091a4ea	However, the younger brother, who was diagnosed as having @DISEASE$ and LVNC with @PHENOTYPICFEATURE$ at the age of 2 months, received early medical treatment and demonstrated normal echocardiographic findings.	has_symptom
+90cd3472ab2812158cc4c311f331e61321881504	Thus the TAZKD mouse model of @DISEASE$ has led to important insights into disease pathogenesis and therapeutic targets, which can potentially translate to pediatric @PHENOTYPICFEATURE$.	has_symptom
+7d2b31162bea23eed95a22056cd2e2ed303467da	In the heart, functional CL is linoleic acid rich, and the loss of linoleic acid content is associated with cardiac disorders including ischemia and reperfusion, @PHENOTYPICFEATURE$, and diabetes, as well as the X-linked recessive disease, @DISEASE$.	has_symptom
+cb97b49c9ef214e33e1dbf45ce3e9385132873d1	We report a child with @DISEASE$ who had an "undulating cardiac phenotype" and ultimately developed decompensated @PHENOTYPICFEATURE$ requiring mechanical circulatory support with a ventricular assist device as a bridge to transplantation.	has_symptom
+960832f428bfbf28bea5c2dfe9f06a935e348be5	We conclude that children with @DISEASE$ and @PHENOTYPICFEATURE$ be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone.	has_symptom
+f251381586d84d8bdd3c3d88a7c022f65296242e	@DISEASE$ is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, @PHENOTYPICFEATURE$, and abducted thumbs and toes.	has_symptom
+042cb7f9bd25a5651a3e7c091d1cdf2a7b81be4e	This family may represent the true spectrum of @PHENOTYPICFEATURE$ E; they may be affected with a specific @DISEASE$; or they may represent a new syndrome.	has_symptom
+c96630938fb8e29c3051f7dce2bb9496b007e7da	The kindred displayed early onset OA, enlarged epiphyses, platyspondyly, and @PHENOTYPICFEATURE$ with dysplastic findings consistent with mild @DISEASE$.	has_symptom
+c8c63affc7187fe84aeb401b2f7035cd4aae4767	Searches for the genes responsible for @PHENOTYPICFEATURE$, symphalangism, @DISEASE$, and camptodactyly-arthropathy syndrome are presented to exemplify these approaches.	has_symptom
+887b0e254aeb9c588bffee59b069794290f6ac57	@DISEASE$ (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like @PHENOTYPICFEATURE$.	has_symptom
+35e70c598a1940638c1658db0541a9f9ad87b1d1	Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant @PHENOTYPICFEATURE$, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like @DISEASE$.	false
+4ae36fc8396b7f63256b4e210476ad9c326d3aeb	@DISEASE$ (SED) Maroteaux type is an autosomal dominant @PHENOTYPICFEATURE$, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like brachydactyly.	false
+0d30a8bb8d9eb0369dfd8e9492c87b6883173985	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the @DISEASE$-@PHENOTYPICFEATURE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	has_symptom
+08c037933e1486cdf1db019f94105c9b8402690a	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island @DISEASE$ or Tattoo dysplasia) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+1b912fab84a3a8b7488f7bd429c505530429e769	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or @DISEASE$) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+f965ea694581a3e61e8e90818e32e9ca2b91b2b2	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-@DISEASE$ and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+78d608299f798b0c3c6c6e0ab3f72ff6f67f472e	We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the @DISEASE$-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by @PHENOTYPICFEATURE$ with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis.	false
+8c5315426f6abffc8aa828d8e89cdc4134a9d6f0	ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with @PHENOTYPICFEATURE$, and in patients with @DISEASE$.	has_symptom
+6f8a2ef5607fce9d60c14c71074653fbec256749	ACAN should be considered as a candidate gene in patients with @PHENOTYPICFEATURE$ and minor skeletal defects, particularly those with brachydactyly, and in patients with @DISEASE$.	false
+f2c3aa5aff911902f53075448b4f20d2d091f144	ACAN should be considered as a candidate gene in patients with @PHENOTYPICFEATURE$ and minor skeletal defects, particularly those with @DISEASE$, and in patients with spondyloepiphyseal dysplasia.	false
+3294a093c7a56f3047cfc12cc8870fd52e80f35b	@DISEASE$ (ML II, OMIM 252,500) is an autosomal recessive disorder clinically characterized by @PHENOTYPICFEATURE$ similar to Hurler syndrome and pronounced gingival hypertrophy.	has_symptom
+e0fe64a1c46e1a702221d146dc52eae4144e54b2	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, @PHENOTYPICFEATURE$ and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	has_symptom
+f722909714b065a2eacb0e3f2080d87dd3cd77bb	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, @DISEASE$ and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+1e25f5853387b42016a64a7200886b49a2f67178	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	false
+549ecb0699632fd21eabcaa63f900219e4c8f6e4	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+a956ce0589b1f122afd326fb864eb39826327833	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+f4132ddc6247c6b3d0e9dd4dd83cff4da1b61cf4	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	false
+97865e9a1ddfaa805a71172b400449e795a92154	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, @DISEASE$, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+08d0de3016ba5072d0f88109cf318eb7cb505c46	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) @DISEASE$.	false
+7b4dacbc708df515314a72ccdd7afb2a80d40f85	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (@DISEASE$), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+0a8c0df6d2946cd0315313de62a426abe08d8c83	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) @DISEASE$.	false
+f18141ce1e68d1b095286a1cb2590ac8138ee198	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in @DISEASE$ (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+84712737ce9ac127f1bd7d6254213f22375f9d50	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, @DISEASE$ and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+18e12e03439a7ed61082fc0fc0331bd47feb5553	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (@DISEASE$), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+8f64533b1d75f771bffc5ae1c38fc023e32727f3	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+53bc5e559d03905ffcb1ed51d55ed54d463eb7dd	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, @DISEASE$ and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+7ec063030f5180572ff623196a2fd788f3ae0cc4	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, @DISEASE$, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+fa4ef24d0bd6069121f90e09bbb52c46610b5ca7	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in @DISEASE$ (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+49a3a56b9c46142d333f48ffa776a3745e84ceaa	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	false
+d7db881d04713c4a28b1a816edaabfe84fcf6c9a	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, @DISEASE$, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+b13180dbff8f5d5261d06ab2096f6e6d24c4e712	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (@DISEASE$), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+cd3dd5ca5f7c99a9381027ffb48058a6cd0f7efa	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) @DISEASE$.	false
+9fd2194bc42bf070c90052199a342917c0fdb158	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in @DISEASE$ (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+11576ce095c885e913e35abb5bb9a88d20cc79ca	@DISEASE$ (LHF) is a viral disease accompanied with fever, headache, @PHENOTYPICFEATURE$, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	has_symptom
+67695de4d0535d341d0cdad519a58629b9b25676	Lujo hemorrhagic fever (LHF) is a viral disease accompanied with @PHENOTYPICFEATURE$, headache, @DISEASE$, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	false
+1e06d426d3e01661c7eeb13d57e694154ed6a345	Lujo hemorrhagic fever (LHF) is a viral disease accompanied with @PHENOTYPICFEATURE$, headache, vomiting, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic @DISEASE$.	false
+1cc8abe74ca7f2c8cfa1687b309ead596e76c4c7	Lujo hemorrhagic fever (LHF) is a viral disease accompanied with @PHENOTYPICFEATURE$, headache, vomiting, @DISEASE$, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	false
+e47241d4899565844d74f5c802c978f05e2d3e91	@DISEASE$ (LHF) is a viral disease accompanied with @PHENOTYPICFEATURE$, headache, vomiting, diarrhea, arthralgia, myalgia and numerous signs of hemorrhagic syndrome.	false
+94444dc998e72601fc93ddc236a3375effe48184	We presented 5 cases of @DISEASE$ patients and observed the radiopharmaceutical uptake in skin, nodules and recurrent @PHENOTYPICFEATURE$ lesions.	has_symptom
+e286ebaf4d9dbc7bf96aff9a5e09052d4de7fe0f	Child with overgrowth, pigmentary streaks, @PHENOTYPICFEATURE$, and intestinal lymphangiectasia: @DISEASE$ or new disorder?	has_symptom
+dcc7321330fe33edc51f2df911fd1aa951c7f4e7	Child with @PHENOTYPICFEATURE$, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: @DISEASE$ or new disorder?	false
+c9a76446d002470c1a73223291ecb603f65f6e1d	Child with @PHENOTYPICFEATURE$, pigmentary streaks, @DISEASE$, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?	false
+9967de17376b906e5450950d82372f3885fb2b92	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, @PHENOTYPICFEATURE$ and deafness.	has_symptom
+515ab1668be5fdcd6c741dfa3030eb771bbfc58a	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, @PHENOTYPICFEATURE$ and deafness.	has_symptom
+6cb1faec73a05a9c94e558c0b59312e1ee9261a4	Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, @DISEASE$ and deafness.	false
+f0c1a13ed7ae58d0ae32c763ba0b721680d470f0	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+30f48bab00265f2d89d7c4608536bdf0c1fae992	Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+43acf77e2fe301c6313ce9a0e217b87244fa801d	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, growth retardation and deafness.	false
+c0fb0205cb5564440debc543e071001846a91ca1	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, @PHENOTYPICFEATURE$, pulmonic stenosis, abnormal genitalia, growth retardation and deafness.	false
+633578cf97e2aee24e1812a496b24c6555f6516e	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+c3f29d03e8f3869986727b9ab258ba93955384e9	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, @PHENOTYPICFEATURE$, and deafness.	has_symptom
+79184cec73aee5015ec8fb5ac8a7275a14d872b8	LEOPARD syndrome is a rare congenital disease that can manifest with @PHENOTYPICFEATURE$, multiple lentigines, ocular hypertelorism, @DISEASE$, and deafness.	false
+cae777ce9d713ed540d5e3b43341048d77d84f99	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, @PHENOTYPICFEATURE$, growth retardation, and deafness.	false
+d706d6cbc39914d46f75c1f406db9edbf71c9997	LEOPARD syndrome is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+35d2be0f345c877101a9ff5bf1cc5aaf099470db	@DISEASE$ is a rare congenital disease that can manifest with @PHENOTYPICFEATURE$, multiple lentigines, ocular hypertelorism, growth retardation, and deafness.	false
+3b1e7151f879c6a33907cac3763c03a45c6ae83d	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, growth retardation, and @PHENOTYPICFEATURE$.	false
+7abd759da72205b65e2d34eecef42b2f8cfa8c5a	LEOPARD syndrome is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, @PHENOTYPICFEATURE$, @DISEASE$, and deafness.	false
+1e49bc3d48b3a196d3309a54d9662f09d9100c0c	These include Noonan syndrome (NS), @DISEASE$ (NSML), (cardiofaciocutaneous CFC) syndrome, and Costello syndrome (CS), clinical manifestations include @PHENOTYPICFEATURE$, developmental delay, cardiac defects, and specific dysmorphic features.	has_symptom
+9ccceeadf96ba6cd593b74bf0ea01b8d82798997	We report a typical case of @DISEASE$ with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	has_symptom
+07639079a2177421b29667edea4caa4be911503c	We report a typical case of @DISEASE$ with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, @PHENOTYPICFEATURE$, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.	false
+cfae3b0cf08a2c4ae6dc29739a835e4d41289fe2	We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, @PHENOTYPICFEATURE$, pulmonary valve stenosis, @DISEASE$, and sensorineural hearing loss.	false
+8127363c7664b8c81c7f2b28330bc40f03222be9	We report a typical case of @DISEASE$ with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and @PHENOTYPICFEATURE$.	false
+2fce872688f7f810f2547959e313987defff19fb	We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e7543604325e2f2598fabe5e93fb37a6c221db95	Germline mutations of PTPN11 are causative of Noonan syndrome and @DISEASE$ in humans in which there are recognized skeletal abnormalities that include @PHENOTYPICFEATURE$, spinal curvature and chest malformations.	has_symptom
+28450d6387a5f3c59a556b8c43be706a705cf542	Germline mutations of PTPN11 are causative of Noonan syndrome and LEOPARD syndrome in humans in which there are recognized @PHENOTYPICFEATURE$ that include @DISEASE$, spinal curvature and chest malformations.	false
+340741f1bc2e76da03def70f7f094fc9e279d4e6	Germline mutations of PTPN11 are causative of @DISEASE$ and LEOPARD syndrome in humans in which there are recognized @PHENOTYPICFEATURE$ that include growth retardation, spinal curvature and chest malformations.	false
+75705d75c11d8a7adc01ce0009a3b6d10262ebde	Germline mutations of PTPN11 are causative of Noonan syndrome and @DISEASE$ in humans in which there are recognized @PHENOTYPICFEATURE$ that include growth retardation, spinal curvature and chest malformations.	false
+cc854d2cb02d366e1ea642213e4dd1bd4e5da996	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	has_symptom
+d1a75ced848efc367397eb9c699984cdea9506c0	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @PHENOTYPICFEATURE$, and sensorineural deafness.	has_symptom
+a3a0f95f13eb6b0d117b776f00c5d688b5974ac8	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	false
+bae8510f0fa18b627caeba690ca0e1a9a9d48131	@DISEASE$ (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.	false
+460d11412d6102f9dee2fa44ab919297ae901399	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness.	false
+aa093453d35a3586451a270b1c58867f72c1d6f3	Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+599a966536d7b7023bd4a8924d564f8f2eec3838	Noonan syndrome with multiple lentigines (NSML), formerly referred to as @DISEASE$, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and @PHENOTYPICFEATURE$.	false
+b5c64b3ea738dbb0aff007e85e8e525b773d90f5	Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, @PHENOTYPICFEATURE$, pulmonary stenosis, abnormal genitalia, @DISEASE$, and sensorineural deafness.	false
+b6bfae4e318e920e503959a903bcaa16875a21a2	A 5-year-old girl with a family history of @DISEASE$ had multiple lentigines on the face and trunk, hypertelorism, and @PHENOTYPICFEATURE$.	has_symptom
+74191bdbcf97c5614fffba12be3e09ca0cd7339a	A 5-year-old girl with a family history of LEOPARD syndrome had multiple lentigines on the face and trunk, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8589cf4aba3772f9567f7bbc6fea7810e41921c1	A 5-year-old girl with a family history of @DISEASE$ had multiple lentigines on the face and trunk, @PHENOTYPICFEATURE$, and growth retardation.	false
+a9372bc22d38ddda42bac7fd856356241c4084d1	The @DISEASE$ is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, @PHENOTYPICFEATURE$, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	has_symptom
+579fab03a996e07c829a4650590aa8f533768c04	The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, @PHENOTYPICFEATURE$, abnormal genitalia, @DISEASE$, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+cacd5567a9312dcdb45086b30be931a34f0c761c	The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, @DISEASE$, @PHENOTYPICFEATURE$, and cardiac and electrocardiographic abnormalities.	false
+68a25762cc37474a3dccb59ad2f63e7eac86afab	The LEOPARD syndrome is a rare, autosomal dominant @DISEASE$ characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, @PHENOTYPICFEATURE$, and cardiac and electrocardiographic abnormalities.	false
+125faa93995d5ed38a159eff41f9d93c3d176a5d	The @DISEASE$ is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, @PHENOTYPICFEATURE$, and cardiac and electrocardiographic abnormalities.	false
+df4ade713545d4bda06d412c8246ff8d5bff893d	The @DISEASE$ is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, @PHENOTYPICFEATURE$, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+ec20cb7b3d0fa5dd4c47bb15c3bc5ae4fd0aba27	The LEOPARD syndrome is a rare, autosomal dominant @DISEASE$ characterized by lentiginosis, @PHENOTYPICFEATURE$, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities.	false
+334f42b9c5838bb272dad7ce244647e110fc3584	@DISEASE$ is characterised by accelerated growth, acromegalic appearance, @PHENOTYPICFEATURE$ and social maladjustment.	has_symptom
+16734a1a9b23b0b6ad6e4c3f5424ff92a9e824e3	A review of three children who attended a school for the @PHENOTYPICFEATURE$ shows that they have @DISEASE$.	has_symptom
+5aae4bafcd35234e98ab912c97d1152233a1a745	@DISEASE$ is a congenital overgrowth condition associated with @PHENOTYPICFEATURE$ and an uneven cognitive profile.	has_symptom
+28d7ff0e3ebb3ad9fcf27e5f9cea25534c02d1af	Sotos syndrome is a congenital @PHENOTYPICFEATURE$ condition associated with @DISEASE$ and an uneven cognitive profile.	false
+6507ff3aabb59553a1b80c6f9328221132da23f2	@DISEASE$ is a congenital @PHENOTYPICFEATURE$ condition associated with intellectual disability and an uneven cognitive profile.	false
+3537ddd73aaba0cb004104d3cc56b8c078323c42	Two brothers presented from birth with features characteristic of Sotos syndrome (@DISEASE$): overgrowth, craniofacial abnormalities, and @PHENOTYPICFEATURE$ with hyperactive and aggressive behavior.	has_symptom
+4ad3e196e3cccaac7a697a00bf1f6641f979cd0f	Two brothers presented from birth with features characteristic of @DISEASE$ (cerebral gigantism): overgrowth, craniofacial abnormalities, and @PHENOTYPICFEATURE$ with hyperactive and aggressive behavior.	has_symptom
+4fdad26330bcf6bf1fa96234d58a204d026df2b7	Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): @PHENOTYPICFEATURE$, craniofacial abnormalities, and @DISEASE$ with hyperactive and aggressive behavior.	false
+3b716d20b6b175bf574a2a1ebe6160c566e96b0d	Two brothers presented from birth with features characteristic of @DISEASE$ (cerebral gigantism): @PHENOTYPICFEATURE$, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior.	false
+dc0f9a65239df893f31f3a8c280008e08ec3b297	Two brothers presented from birth with features characteristic of Sotos syndrome (@DISEASE$): @PHENOTYPICFEATURE$, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior.	false
+0089a699504acfdd95c47ca16f607d73977623c1	Manifestations of @DISEASE$ include a distinct facial appearance, overgrowth, @PHENOTYPICFEATURE$, and behavioral issues.	has_symptom
+26930695697f53c9a61b410d5b68b548bf575e3d	Manifestations of Sotos syndrome include a distinct facial appearance, @PHENOTYPICFEATURE$, @DISEASE$, and behavioral issues.	false
+3374a0b9019a05ff6039adea937bbc9804def12d	Manifestations of @DISEASE$ include a distinct facial appearance, @PHENOTYPICFEATURE$, intellectual disability, and behavioral issues.	false
+03b1bc0dcaa48736eed72953c428a7310148e67c	@DISEASE$ is an overgrowth syndrome with characteristic facial gestalt and @PHENOTYPICFEATURE$ of variable severity.	has_symptom
+632318ddf52dd33fee3aac49d2816a160824c8de	@DISEASE$ is a congenital overgrowth disorder, associated with @PHENOTYPICFEATURE$.	has_symptom
+0752fa1b7e74569366fa69bf5995c1d4e23abc90	@DISEASE$ is a congenital @PHENOTYPICFEATURE$ disorder, associated with intellectual disability.	false
+a15266975d76197a51fb95c4e450833c2c1485fa	Sotos syndrome is a congenital @PHENOTYPICFEATURE$ disorder, associated with @DISEASE$.	false
+cf87ce3484ecc1f9ae10bd63dd6558183ceb8adf	@DISEASE$ (SoS) is characterized by tall stature, characteristic craniofacial features and @PHENOTYPICFEATURE$.	has_symptom
+236df1d2556809415d453f991f8c704746f71518	Increasing evidence suggests MDEMs account for ?19% of @PHENOTYPICFEATURE$ and ?45% of overgrowth combined with intellectual disability, with @DISEASE$ constituting most of the latter.	has_symptom
+0e9682888dc40b6a5a31d94ee9fefec3ea7bbab1	Increasing evidence suggests MDEMs account for ?19% of intellectual disability and ?45% of overgrowth combined with @PHENOTYPICFEATURE$, with @DISEASE$ constituting most of the latter.	has_symptom
+1c7671db46db15e12581f0affa29bfb4f296b61c	Twenty-seven children with Sotos syndrome were compared with 20 children with overgrowth, @PHENOTYPICFEATURE$, and facies not characteristic of @DISEASE$.	has_symptom
+eb291c0c28ad338dca28e89ca0e986c1ca737230	Twenty-seven children with @DISEASE$ were compared with 20 children with overgrowth, @PHENOTYPICFEATURE$, and facies not characteristic of Sotos syndrome.	has_symptom
+938d509dfbb82db38f2b4f0429909188c3424b1f	Twenty-seven children with Sotos syndrome were compared with 20 children with @PHENOTYPICFEATURE$, intellectual disability, and facies not characteristic of @DISEASE$.	false
+3c4ff8291a3e317c372cbae4259b52d3ad86cd27	Twenty-seven children with Sotos syndrome were compared with 20 children with @PHENOTYPICFEATURE$, @DISEASE$, and facies not characteristic of Sotos syndrome.	false
+9de91014008679e35e38b80aa6e675184efbc06c	Twenty-seven children with @DISEASE$ were compared with 20 children with @PHENOTYPICFEATURE$, intellectual disability, and facies not characteristic of Sotos syndrome.	false
+ae21d6bb3c9b46077d39323c63413be9da12bc8c	Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), @PHENOTYPICFEATURE$ or arthritis, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with @DISEASE$.	has_symptom
+5c04fc3dac1f79b1b7dad91949ca62875fcd1352	Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), arthralgias or @PHENOTYPICFEATURE$, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with @DISEASE$.	false
+78eb255e5bb1e0d2ef70c868770ede87d60b7554	Other systemic features may be seen: pulmonary involvement (mostly interstitial pneumonitis and hypoventilation), @DISEASE$ or @PHENOTYPICFEATURE$, cardiac involvement, vasculatis and calcinosis particularly in children or adolescents with dermatomyositis.	false
+922b65dc013a655ffb02339df7351521eb3c7bd4	Our results suggest that @DISEASE$ may be more common than previously recognized and can lead to severe @PHENOTYPICFEATURE$ if left untreated.	has_symptom
+ceb43d6c564732cda46ce64dbff05ee3efd41028	@DISEASE$ is an autosomal recessive purine enzyme defect that causes urolithiasis and, in severe cases, @PHENOTYPICFEATURE$.	has_symptom
+cdb370144803a8736cd90727f90049cb7011a070	@DISEASE$: an underdiagnosed cause of lithiasis and @PHENOTYPICFEATURE$.	has_symptom
+5c098c09793f86fb1f163e2fed4cdf2d2862373b	@DISEASE$ as a cause of @PHENOTYPICFEATURE$.	has_symptom
+76b732d36efd0f7ae8cb063fe1525437e56fbb3a	Diagnosis of @DISEASE$ as the underlying cause of @PHENOTYPICFEATURE$ in a renal transplant recipient.	has_symptom
+f844a0f44aa0110acc49cb5eb7aa05ef7286ff63	Appropriate treatment should be initiated to prevent the development of urolithiasis or @PHENOTYPICFEATURE$ in @DISEASE$ children.	has_symptom
+9bcc510a16a4f16ca6b1ec8439c58670df597138	@DISEASE$ or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to hypertonia and @PHENOTYPICFEATURE$ episodes.	has_symptom
+7f1e3424e52e62ff937a946cab584a81e4a19eff	Hereditary hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to @PHENOTYPICFEATURE$ and @DISEASE$ episodes.	false
+a9658da0a9d13032903a958080610ad12c8159e9	@DISEASE$ or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, leading to @PHENOTYPICFEATURE$ and apnea episodes.	false
+ff5b10262caf7855ca17ca8f9cf46c8ebebc7a3b	Hyperekplexia or @DISEASE$ is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing hypertonia and @PHENOTYPICFEATURE$ episodes.	has_symptom
+98cb303ee109bbf1e658d210b3600424de996734	@DISEASE$ or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing @PHENOTYPICFEATURE$ and apnea episodes.	false
+32f20ff66cf58f9818c549ae3b9f78411d373ae4	Hyperekplexia or startle disease is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing @PHENOTYPICFEATURE$ and @DISEASE$ episodes.	false
+77560c1263f588605e181032013c288bc5fae138	Hyperekplexia or @DISEASE$ is characterized by an exaggerated startle response, evoked by tactile or auditory stimuli, producing @PHENOTYPICFEATURE$ and apnea episodes.	false
+6a5b08c63a0d4f0381d33a702e3eca9690b1f970	@DISEASE$ is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-epileptic seizures, excessive muscle stiffness and neonatal @PHENOTYPICFEATURE$ episodes.	has_symptom
+817e627d2a1d5fec248150daf6593229f31b71f6	Startle disease is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-@PHENOTYPICFEATURE$, excessive muscle stiffness and neonatal @DISEASE$ episodes.	false
+832a24ce21ceaa268809cc13e0d4e9e9b4e4df6f	Startle disease is an inherited @DISEASE$ that causes affected individuals to suffer noise- or touch-induced non-@PHENOTYPICFEATURE$, excessive muscle stiffness and neonatal apnea episodes.	false
+aa49f2bb316ebaace8254f88f6f996a6060db67e	@DISEASE$ is an inherited neurological disorder that causes affected individuals to suffer noise- or touch-induced non-@PHENOTYPICFEATURE$, excessive muscle stiffness and neonatal apnea episodes.	false
+bd35cba16298050c14ad49c2da23f17f7b906492	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (@PHENOTYPICFEATURE$), and ear anomalies, including conductive hearing loss.	has_symptom
+2506c35e40553b52b44188624f42c4770f701b1f	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, @PHENOTYPICFEATURE$ (intellectual disability), and ear anomalies, including conductive hearing loss.	has_symptom
+6d16db530f9857026c927161cb0e23dcceb2793c	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (@DISEASE$), and @PHENOTYPICFEATURE$, including conductive hearing loss.	false
+3842225c6b190d0e2b575d4bda4b985625d9dea6	@DISEASE$ is characterized by colobomas, @PHENOTYPICFEATURE$, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss.	false
+efd3b7ddddeb30d9bd60b92791a7ea89578885e0	CHIME syndrome is characterized by colobomas, @PHENOTYPICFEATURE$, ichthyosiform dermatosis, @DISEASE$ (intellectual disability), and ear anomalies, including conductive hearing loss.	false
+7c692e54195553c9a91e77c15eaccc0f756b5fc0	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, @DISEASE$ (intellectual disability), and ear anomalies, including @PHENOTYPICFEATURE$.	false
+74586f49c33286c8972a55a4ca5ea33f9318caea	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including @PHENOTYPICFEATURE$.	false
+d019e7ac73871def39e2bed44f04ec444b6dad84	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, @DISEASE$ (intellectual disability), and @PHENOTYPICFEATURE$, including conductive hearing loss.	false
+4ccf4698c1b6d3a1992398401faf2ba7a96d7ea4	CHIME syndrome is characterized by colobomas, @PHENOTYPICFEATURE$, ichthyosiform dermatosis, mental retardation (@DISEASE$), and ear anomalies, including conductive hearing loss.	false
+9dbb0c3e6c9d3387aa8c93bdda9e7e6166e665f8	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and @PHENOTYPICFEATURE$, including conductive hearing loss.	false
+5ee6b72a61016dce3d5595c51ce6f9c91f3c8156	CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (@DISEASE$), and ear anomalies, including @PHENOTYPICFEATURE$.	false
+390b894a8c81d6172170362d74e9c24c0a73f0dd	The "@DISEASE$ (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, @PHENOTYPICFEATURE$, and Ear defects.	has_symptom
+b55fedeeba886eecad55ee8983e513f8c2a8d917	The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, @PHENOTYPICFEATURE$, Ichthyosiform dermatosis, @DISEASE$, and Ear defects.	false
+772685de96ee54d83301c45f721c6c9b5bc47b8e	The "@DISEASE$ (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, @PHENOTYPICFEATURE$, Ichthyosiform dermatosis, Mental retardation, and Ear defects.	false
+432a9411ad26a1e932b2df3f5c8d866036b482af	Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with @DISEASE$, a rare autosomal recessive disorder characterized by colobomas, congenital heart defects, early onset migratory ichthyosiform dermatosis, @PHENOTYPICFEATURE$, and ear abnormalities.	has_symptom
+6f5e7dea29e4caca02f94695e65db330e855319a	Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with @DISEASE$, a rare autosomal recessive disorder characterized by colobomas, @PHENOTYPICFEATURE$, early onset migratory ichthyosiform dermatosis, intellectual disability, and ear abnormalities.	false
+d24f720b2beb774cf5d2b8125eca68fe7fa5ced9	Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with CHIME syndrome, a rare autosomal recessive disorder characterized by colobomas, @PHENOTYPICFEATURE$, early onset migratory ichthyosiform dermatosis, @DISEASE$, and ear abnormalities.	false
+35d130db5611af6e08b9ff3c809ec405f8056e99	The @DISEASE$ is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" @PHENOTYPICFEATURE$, imperforate anus, polydactyly and various visceral anomalies.	has_symptom
+1a56f36115dcf7c0726b3eee30321d8fc77f84c5	The @DISEASE$ is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" hypopituitarism, imperforate anus, @PHENOTYPICFEATURE$ and various visceral anomalies.	false
+09cdd2442e862156e76c5ba7bd8ddc6bfcbaf044	The Pallister-Hall syndrome is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" @DISEASE$, imperforate anus, @PHENOTYPICFEATURE$ and various visceral anomalies.	false
+09cbe25e948a0db98b45c6d5ea9165f9273a55ce	@DISEASE$ is a usually lethal dysplasia/malformation syndrome characterized by hypothalamic hamartoblastoma, @PHENOTYPICFEATURE$, postaxial polydactyly, craniofacial malformations, imperforate anus, and other malformations.	has_symptom
+dae8687e1185012328a88b41793b397a4e1c9e60	Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by facial dysmorphism, congenital heart abnormalities, @DISEASE$ and severe @PHENOTYPICFEATURE$.	has_symptom
+48f383feabbd645db524ace9beebef7334e21c98	Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, congenital heart abnormalities, @DISEASE$ and severe growth retardation.	false
+fdacd55c5e0ea210faf4767f79b04156bd4bd5b8	Young-Simpson Syndrome (YSS) is a rare @DISEASE$ characterized by @PHENOTYPICFEATURE$, congenital heart abnormalities, congenital hypothyroidism and severe growth retardation.	false
+933e6d12cce5347f4ad32a4750c613d11af24628	Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, congenital heart abnormalities, congenital hypothyroidism and severe @DISEASE$.	false
+eb159e1d2c6db8555c9dfe57d761bf6fad545b98	To describe the long-term follow-up of a 22-year-old male of Israeli Arab Muslim origin, born to a consanguineous union, with @DISEASE$, who presented with life-threatening hypoglycaemic episodes and severe @PHENOTYPICFEATURE$ from infancy.	has_symptom
+3bbb8fa604e68e144d6f7ae9602dea8891e6bc72	The child shows minor facial anomalies, severe developmental delay, @PHENOTYPICFEATURE$, and a history of @DISEASE$ and neonatal transitory hyperglycemic crises.	has_symptom
+b4d05bebad037c684aab669ecb8759fd4f0350cd	One of the most preventable causes of mental and @PHENOTYPICFEATURE$ is @DISEASE$ (CH).	has_symptom
+835f4a4982265a49662627334bda3d7da376121c	We describe a 4-year-old boy affected by @DISEASE$ (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, pectus carinatum and slight scoliosis, psychomotor delay, @PHENOTYPICFEATURE$ and a severe hypoplasia of the right cerebellar hemisphere and vermis.	has_symptom
+d8172db0f6e7cf8df739eb1369cfdd32c0d1ddc5	We describe a 4-year-old boy affected by @DISEASE$ (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, @PHENOTYPICFEATURE$ and slight scoliosis, psychomotor delay, growth retardation and a severe hypoplasia of the right cerebellar hemisphere and vermis.	false
+d8f854df6fdea4e918b06ee5678cdcd7cf6e45c5	We describe a 4-year-old boy affected by congenital hypothyroidism (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, @PHENOTYPICFEATURE$ and slight scoliosis, psychomotor delay, @DISEASE$ and a severe hypoplasia of the right cerebellar hemisphere and vermis.	false
+f0fb9d152dddf667c018653d16e0c77cacdd359c	Pups from the MMI-treated dams revealed @DISEASE$ with cretinoid physical appearance and showed significant @PHENOTYPICFEATURE$ compared to the controls.	has_symptom
+be6a6bb3edeae0ea2650f8fd08797737a8430df2	It is characterized by the association of @DISEASE$, @PHENOTYPICFEATURE$, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and dental anomalies), and abnormalities of the extremities.	has_symptom
+1c5f6cdbfdf7f48bbb734e739c3eff0d97d1cf7e	It is characterized by the association of congenital hypothyroidism, @DISEASE$, psychomotor retardation, epilepsy, dysmorphic features (@PHENOTYPICFEATURE$, facial, eye, and dental anomalies), and abnormalities of the extremities.	false
+c475f5360453940750925382c9888db48d0621fe	It is characterized by the association of @DISEASE$, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (@PHENOTYPICFEATURE$, facial, eye, and dental anomalies), and abnormalities of the extremities.	false
+a53379e57512ddbae9920a4f1689c9e3d8d09412	It is characterized by the association of @DISEASE$, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and @PHENOTYPICFEATURE$), and abnormalities of the extremities.	false
+c8fa4b9efb3c1bb14d4e7f9ed72be64544593a03	It is characterized by the association of congenital hypothyroidism, @DISEASE$, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and @PHENOTYPICFEATURE$), and abnormalities of the extremities.	false
+3ebcb7cd677f19f135cfcd21c1f8ccb4bf88d8d2	@DISEASE$ (CH), usually of the primary and permanent variety, is an eminently preventable cause of @PHENOTYPICFEATURE$ and mental handicap whose outlook has been transformed by newborn screening, usually involving the measurement of capillary thyroid stimulating hormone (TSH).	has_symptom
+f04703377923547c4fe9fe33d930e80151d8d296	Here we report a familial syndrome of @DISEASE$, cleft palate, diffuse agyria, and severe @PHENOTYPICFEATURE$.	has_symptom
+0b767b98df122144f9827f2ba3d10e3dc767b997	Here we report a familial @DISEASE$ of lissencephaly, @PHENOTYPICFEATURE$, diffuse agyria, and severe cerebellar hypoplasia.	false
+7fcdf91416c922b3cff4320420652185c0cf8f66	Here we report a familial syndrome of lissencephaly, @PHENOTYPICFEATURE$, diffuse agyria, and severe @DISEASE$.	false
+207f90512b2ea62098a08915372638941e87b458	Here we report a familial syndrome of @DISEASE$, @PHENOTYPICFEATURE$, diffuse agyria, and severe cerebellar hypoplasia.	false
+102328b0bbabe2cff1d7705a9c3491e1ac0f8da2	Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), double cortex syndrome (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or @DISEASE$ plus @PHENOTYPICFEATURE$ (reelin defect).	has_symptom
+2d6858feb151468957d3080c8396bd970dce5b1e	Several forms of arthritis were associated with @DISEASE$, including acute mono/oligoarthritis in the lower extremities, destructive arthritis, ankylosing spondylitis, sacroiliitis, @PHENOTYPICFEATURE$ of the hip joint, and juvenile chronic arthritis.	has_symptom
+34a576f3b1c3e4a0dfa464a61138fcb7a5ea2faa	Familial Mediterranean Fever (@DISEASE$) is a hereditary autoinflammatory syndrome characterized by recurrent serositis or @PHENOTYPICFEATURE$ attacks and, in some patients, chronic subclinical inflammation that predisposes to secondary amyloidosis.	has_symptom
+418e18afb989562a148e082dc25d318a4a571b97	@DISEASE$ (FMF) is a hereditary autoinflammatory syndrome characterized by recurrent serositis or @PHENOTYPICFEATURE$ attacks and, in some patients, chronic subclinical inflammation that predisposes to secondary amyloidosis.	has_symptom
+b17534e2fc99f1fa63b47a8ea1ad0be8f1b370cc	Forty-nine patients with @DISEASE$ were enrolled (23 had a history of @PHENOTYPICFEATURE$ during attacks and 26 had no such history).	has_symptom
+3bce7a02c4395e9503c29d80691ceff7100d05a3	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with @DISEASE$ in 1994.	has_symptom
+1f3a69ced90f14f1fb5a988b3dfd895c58d61377	Protracted febrile myalgia @DISEASE$ (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+b4243a2203ca5f8510b1261fb252fc45de5ca508	Protracted febrile myalgia @DISEASE$ (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+679618451d85a8f73da22eb702aa55ca17d52dfb	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, @DISEASE$, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+0da37c921cd4a031c459eb8ac3ec5cb69345a100	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, diarrhea, @DISEASE$/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+1ee2861e753d9a52690914b70de10d947a66e347	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, @DISEASE$, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+3bf8c3716c4c495c521a6c8495bdd7a541e16303	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, @DISEASE$/@PHENOTYPICFEATURE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with FMF in 1994.	false
+d43f4851a8d9f0cddb3d8487289df89e4e80be6a	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with @DISEASE$ in 1994.	false
+f3462741c48be099dc39c13509f7cdbc5b176a59	Protracted febrile myalgia syndrome (PFMS), characterized by severe paralyzing myalgia, high fever, abdominal pain, diarrhea, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic rashes mimicking Henoch-Schonlein purpura, was first described in patients with @DISEASE$ in 1994.	false
+1e70e20f070f0818e518c2d1f45712be0d8ae9b5	Familial Mediterranean fever (@DISEASE$) is an autoinflammatory disease characterized by recurrent fever, peritonitis/pleuritis, or @PHENOTYPICFEATURE$ attacks.	has_symptom
+6ac6311a23fea4f02ae73ae63ac88480735b9cbe	@DISEASE$ (FMF) is an autoinflammatory disease characterized by recurrent fever, peritonitis/pleuritis, or @PHENOTYPICFEATURE$ attacks.	has_symptom
+4f9334cf90585fbb91874feec21cb5035a2684c7	PFMS is seen in only a small percentage of @DISEASE$ patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, @PHENOTYPICFEATURE$/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	has_symptom
+82b9359fb17ad36a1c359d417ea49d506fd8a6e3	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, @DISEASE$, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+475903ed5a7d0cbfd8bb415bfd42401ba244f78a	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, @DISEASE$, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+6e9771979425142bacd7dd93cb797a65721410b7	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the @DISEASE$ and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+5914c18457cc26fe8f3b0f884be68600aa5550dc	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, @DISEASE$/@PHENOTYPICFEATURE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+0317303e5583f81f8e6ecf066009f133dbbe660b	PFMS is seen in only a small percentage of @DISEASE$ patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, arthritis/@PHENOTYPICFEATURE$, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+c7846c5c0e2ca2513774b1f5fb4efa7ae964273e	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, diarrhea, @DISEASE$/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+31ab5bcc7832d7954a3fc09daf79c6b503fdbb9c	PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the @DISEASE$ and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+be42ff6322708a14b73d54f231dd135ce287b805	PFMS is seen in only a small percentage of @DISEASE$ patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by @PHENOTYPICFEATURE$, diarrhea, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Sch?nlein purpura (HSP).	false
+b69b4848924c044543b0c295611f9687d4f7274a	Familial Mediterranean fever (@DISEASE$) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and @PHENOTYPICFEATURE$ attacks.	has_symptom
+63b17809a8f6b2fc07f3ffb935e9a186b640d21d	@DISEASE$ (FMF) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and @PHENOTYPICFEATURE$ attacks.	has_symptom
+0b9be59b6262a8bf6d561cedddeace98f5754bf7	A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of @DISEASE$ with Beh?et disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset @PHENOTYPICFEATURE$.	has_symptom
+1f8b74b9021f20515b6ca9387c3331c3a70dc3aa	A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of FMF with Beh?et disease, and an early presentation of @DISEASE$ in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset @PHENOTYPICFEATURE$.	has_symptom
+4a055274603617a430681823cf413861ea1474cc	A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of familial Mediterranean fever (@DISEASE$) in a youngster, an atypical adult case with overlapping of FMF with Beh?et disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset @PHENOTYPICFEATURE$.	has_symptom
+545df1b11e5883fffd7ad770d13916dd0fc723a4	A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas--a typical unrecognized case of @DISEASE$ (FMF) in a youngster, an atypical adult case with overlapping of FMF with Beh?et disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset @PHENOTYPICFEATURE$.	has_symptom
+80f68b1a12d50b9071c8e41b73e4a46049640947	@DISEASE$ is characterized by a reversible segmental and multifocal vasoconstriction of cerebral arteries, and severe headaches with or without focal neurologic deficits or @PHENOTYPICFEATURE$.	has_symptom
+0a58deee420e6969d7d402d911c19d737b51f6d5	@DISEASE$ presenting with severe headache and @PHENOTYPICFEATURE$.	has_symptom
+a744b30f47e0d6e3b35a75c0d946b6c658a51851	We report a right-handed 19-year-old girl who developed @DISEASE$ (RCVS) lateralized to the right hemisphere with simultaneous new-onset left hemispheric @PHENOTYPICFEATURE$.	has_symptom
+dc31fea803f2e00b69a2f63a56ebbb44fdca0f9f	@DISEASE$ is characterized by severe headaches with or without focal neurologic deficits and/or @PHENOTYPICFEATURE$, and segmental constriction of cerebral arteries that resolves within 3 months.	has_symptom
+709540a19d04f5c17a6f69d62ff9b4c2115651bf	@DISEASE$ (RCVS) is characterised by headache, focal neurological deficits or @PHENOTYPICFEATURE$, and reversible cerebral vasoconstriction.	has_symptom
+d6e3044db6c5df8906eeda1e62f1b263d0605d75	@DISEASE$ (RCVS) is a common cause of thunderclap headache (TCH), mainly recurrent, sometimes associated with @PHENOTYPICFEATURE$ and/or neurological deficit.	has_symptom
+98a26731a76c896b4ae6f963ab6f962dea7940f3	@DISEASE$ (RCVS) is an infrequent disease characterized by severe headaches with or without focal neurological deficits or @PHENOTYPICFEATURE$ and a reversible vasoconstriction of cerebral arteries.	has_symptom
+f9242b893a19a5d89e746a6389e248d22f7753d8	@DISEASE$ (RCVS) is described as a clinical and radiological entity characterized by thunderclap headaches, a reversible segmental or multifocal vasoconstriction of cerebral arteries with or without focal neurological deficits or @PHENOTYPICFEATURE$.	has_symptom
+6d07a135fbc2d75a54b907ef6bbf948f08731be4	@DISEASE$ is characterised by severe headaches with or without @PHENOTYPICFEATURE$ and focal neurological deficits, and constriction of cerebral arteries which resolves spontaneously in 1-3 months.	has_symptom
+1db38e91a8ee224d5606883205d2c6a081d9f523	We report on a child with @DISEASE$ who shows syndactyly of fingers and toes, severe pre- and post-natal @PHENOTYPICFEATURE$, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment.	has_symptom
+324f9d2c192ddd1f540cfe57eb8ee611a04c105e	We report on a child with Filippi syndrome who shows @PHENOTYPICFEATURE$ of fingers and toes, severe pre- and post-natal @DISEASE$, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment.	false
+c850ebf4974ae9deace32ff71493c44b74bf1bc4	We report on a child with Filippi syndrome who shows @PHENOTYPICFEATURE$ of fingers and toes, severe pre- and post-natal growth retardation, postnatal @DISEASE$, epilepsy, and severe mental retardation with speech impairment.	false
+93aa0f9b98676400bca0979b15d544dd2051170a	We report on a child with @DISEASE$ who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and @PHENOTYPICFEATURE$ with speech impairment.	false
+d90b578141c5ac95a84625303a16b0882adce3b9	We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$ with speech impairment.	false
+90b8bf4dcd5ce0318a4d487dac86c1c1de5460ed	We report on a child with @DISEASE$ who shows @PHENOTYPICFEATURE$ of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment.	false
+8baeaa5bb5636f031409f0e3789e257afefe703b	We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal @DISEASE$, postnatal microcephaly, epilepsy, and @PHENOTYPICFEATURE$ with speech impairment.	false
+915a88e495c9664a66bbb354a4cda0f885e27c4c	We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal @DISEASE$, epilepsy, and severe mental retardation with @PHENOTYPICFEATURE$.	false
+e6f1e107b25daf9067a93e863a0dd19f9abfdb4f	We report on a child with @DISEASE$ who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with @PHENOTYPICFEATURE$.	false
+04788611e49aab7ea6b3dd7f58c136f8a82f0ac7	We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal @DISEASE$, postnatal microcephaly, epilepsy, and severe mental retardation with @PHENOTYPICFEATURE$.	false
+33557b8ee9e4577d0d858ccaa09869d2487482f8	@DISEASE$ is characterized by developmental @PHENOTYPICFEATURE$ failure, cryptorchidism, bilateral hand and foot syndactyly, and facial dysmorphism.	has_symptom
+574dd3de6958b752668d361ca306c78a15a2ae9d	Filippi syndrome is characterized by developmental @DISEASE$ failure, cryptorchidism, bilateral hand and foot syndactyly, and @PHENOTYPICFEATURE$.	false
+76d8db66558445f5c45ae6af99160d302636affe	@DISEASE$ is characterized by developmental delay, growth failure, cryptorchidism, bilateral hand and foot syndactyly, and @PHENOTYPICFEATURE$.	false
+b8af928cf2f147a4c3cf7bcb4efe69815681b5d7	@DISEASE$ is an autosomal recessive condition characterized by syndactyly of fingers and toes, microcephaly, @PHENOTYPICFEATURE$ and abnormal facies.	has_symptom
+580f20a3b19a1e13936197a30cf67e725bc1e1e7	@DISEASE$ is an autosomal recessive condition characterized by syndactyly of fingers and toes, @PHENOTYPICFEATURE$, growth retardation and abnormal facies.	false
+9febe3da747150f2ae6432343e3a4b2880a4e578	Filippi syndrome is an autosomal recessive condition characterized by syndactyly of fingers and toes, @PHENOTYPICFEATURE$, @DISEASE$ and abnormal facies.	false
+b5fbb0351019bd4dd7eef27bd366f3af9164a3e7	Filippi syndrome is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ of fingers and toes, microcephaly, @DISEASE$ and abnormal facies.	false
+130f2ab976bb1c9245f23d39bd6cd78cbde7d9b2	@DISEASE$ is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ of fingers and toes, microcephaly, growth retardation and abnormal facies.	false
+59b4dd5a1416dfdab04b9c94c4b9e1cdc42b503a	Goldberg-@DISEASE$: Hirschsprung disease, hypotonia, and @PHENOTYPICFEATURE$ in sibs.	has_symptom
+b9664aac3754ad09321e121b395598790c3f125a	Guanidinoacetic acid seems to be responsible for intractable seizures and the @PHENOTYPICFEATURE$, both exclusively found in @DISEASE$.	has_symptom
+607a784ef75633355f722d94d3c759bf599c4564	Guanidinoacetic acid seems to be responsible for intractable @PHENOTYPICFEATURE$ and the @DISEASE$, both exclusively found in GAMT deficiency.	false
+0ceddaae9aae9dd411c627ad2cabc51807fda327	Guanidinoacetic acid seems to be responsible for intractable @PHENOTYPICFEATURE$ and the movement disorder, both exclusively found in @DISEASE$.	false
+9752e14f06b52f3e6104e9268e34a3684a63d35b	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, @PHENOTYPICFEATURE$, mental disability, and autistic-like behavior.	has_symptom
+ebf9aa99067d93657473becc241dff45edec08ac	GAMT deficiency results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant @PHENOTYPICFEATURE$, @DISEASE$, mental disability, and autistic-like behavior.	false
+832a7b0c75c6c06ede680c3233a4fb5e7c8b0f1e	GAMT deficiency results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, @DISEASE$, @PHENOTYPICFEATURE$, and autistic-like behavior.	false
+16be88dc27d7c5b22478b9c35839c99c66842e42	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, movement disorders, @PHENOTYPICFEATURE$, and autistic-like behavior.	false
+4cefa10826815404f6bbacacfa799dea12091b38	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant @PHENOTYPICFEATURE$, movement disorders, mental disability, and autistic-like behavior.	false
+90b548e94c03a892fe5cbd5ee16d58f2595d7d0d	Some patients with @DISEASE$ exhibit a more complex clinical phenotype with extrapyramidal @PHENOTYPICFEATURE$.	has_symptom
+9632b9eb6eecc005b9c4fb9154ee800d4e6529d9	Although rare, patients with developmental delay, epilepsy, behavioral problems, and @PHENOTYPICFEATURE$ should be vigorously screened for @DISEASE$, as it is a treatable disorder.	has_symptom
+90f8a91aaf96803f91740b515e5445827179ef5b	Patients with @DISEASE$ exhibit a more complex clinical phenotype with dystonic hyperkinetic @PHENOTYPICFEATURE$ and epilepsy that in some cases is unresponsive to pharmacological treatment.	has_symptom
+e18e874c62e59277e1b4288b06b32a729bd7c11f	Newly recognized recessive syndrome characterized by dysmorphic features, @DISEASE$, severe microcephaly, and @PHENOTYPICFEATURE$ maps to 3p21.3.	has_symptom
+c67451253da198fc0cd9addb2b73294bb8115405	Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe @PHENOTYPICFEATURE$, and @DISEASE$ maps to 3p21.3.	false
+065931509f7d24b9852d3d32dba523e69326bb58	Newly recognized recessive @DISEASE$ characterized by dysmorphic features, hypogonadotropic hypogonadism, severe @PHENOTYPICFEATURE$, and sensorineural hearing loss maps to 3p21.3.	false
+7bad0e0c5b49f2b5ba2228583c5f5698f204ceb5	Newly recognized recessive syndrome characterized by dysmorphic features, @DISEASE$, severe @PHENOTYPICFEATURE$, and sensorineural hearing loss maps to 3p21.3.	false
+ac835040e3b9223688dc5d95a3d02f3db51c9171	The condition is characterized by @DISEASE$, severe microcephaly, @PHENOTYPICFEATURE$, moderate learning disability, and distinctive facial dysmorphic features.	has_symptom
+557bab6fa92862b7af14576ab0d71f58eba3febf	The condition is characterized by hypogonadotropic hypogonadism, severe @PHENOTYPICFEATURE$, @DISEASE$, moderate learning disability, and distinctive facial dysmorphic features.	false
+aae2de83041f46578c47c49117a8f6e13f219e73	The condition is characterized by hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, moderate learning @PHENOTYPICFEATURE$, and distinctive @DISEASE$ dysmorphic features.	false
+617d9a9d9ae58f3c875bfff193107d0edee63daa	The condition is characterized by hypogonadotropic hypogonadism, severe @PHENOTYPICFEATURE$, sensorineural deafness, moderate learning disability, and distinctive @DISEASE$ dysmorphic features.	false
+4805d5ef17640b767a582e39d32af94623ff1567	The condition is characterized by @DISEASE$, severe @PHENOTYPICFEATURE$, sensorineural deafness, moderate learning disability, and distinctive facial dysmorphic features.	false
+8940e6f08c39e19aadf0db4b09d7ad692ea8344e	The condition is characterized by hypogonadotropic hypogonadism, severe microcephaly, @DISEASE$, moderate learning @PHENOTYPICFEATURE$, and distinctive facial dysmorphic features.	false
+daa4ef0690a59721757fdbbfc901889842db9727	The condition is characterized by @DISEASE$, severe microcephaly, sensorineural deafness, moderate learning @PHENOTYPICFEATURE$, and distinctive facial dysmorphic features.	false
+8b2add8ef6d1de2dcfda646c56031a13b1944628	Clinical evaluation revealed that, in addition to bilateral eye defects, SOX2 mutations were associated with anterior pituitary hypoplasia and @DISEASE$, variable defects affecting the corpus callosum and mesial temporal structures, hypothalamic hamartoma, @PHENOTYPICFEATURE$, and esophageal atresia.	has_symptom
+8de0ae6c0446a1cc6abe1a7d9b279cfa5248e7d2	DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, @DISEASE$, @PHENOTYPICFEATURE$, diabetes mellitus, and extrapyramidal movements.	has_symptom
+f1dd5b22169c090fadd9aeba431eeb3c2dde2c4d	The @DISEASE$ was limited to skin (stage I tumors) and the patients did not have persistent lymphadenopathy, @PHENOTYPICFEATURE$, night sweats, or weight loss.	has_symptom
+533adcb2d66c881e9d9ff1b383e5fe85c81fcfab	The @DISEASE$ was limited to skin (stage I @PHENOTYPICFEATURE$) and the patients did not have persistent lymphadenopathy, fever, night sweats, or weight loss.	false
+1040397979dac85ca72fe072122835d3594dbd27	The Kaposi's sarcoma was limited to skin (stage I @PHENOTYPICFEATURE$) and the patients did not have persistent lymphadenopathy, @DISEASE$, night sweats, or weight loss.	false
+032bd376e9a20efc0af3ee73fa751f833108f234	A progressive visual field defect and @PHENOTYPICFEATURE$ occurred in a 39-year-old homosexual man with acquired immunodeficiency syndrome and @DISEASE$.	has_symptom
+5c50d22caab52160674e551116414af4a5ffaad6	Favourable effect of chemotherapy on clinical symptoms and human herpesvirus-8 DNA load in a patient with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and anemia.	has_symptom
+8d261c219ab2d30660045412185f291845cd5495	This condition often manifests as vascular skin lesions that resemble those of @DISEASE$, @PHENOTYPICFEATURE$, and anemia and is due to infection with Bartonella (Rochalimaea) henselae.	has_symptom
+253d562ee73126d661947ac2eede55a760a7eaef	A 29-year-old man with diarrhoea, @PHENOTYPICFEATURE$, abdominal pain and multiple purple papular lesions, neither pruriginous nor painful, was diagnosed with HIV-1 infection and disseminated @DISEASE$ (KS) with gastrointestinal involvement.	has_symptom
+11250eacacd3e8efbdc519da6f75eea00fc7e7e9	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and @DISEASE$ was diagnosed in a 70-year-old man who presented with @PHENOTYPICFEATURE$, polyarthralgia, weight loss, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	has_symptom
+d377359cffeadad56eab634f19657e4e26fad6d6	A rare simultaneous occurrence of multicentric Castleman's disease, @DISEASE$, and Kaposi's sarcoma was diagnosed in a 70-year-old man who presented with fever, polyarthralgia, @PHENOTYPICFEATURE$, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	false
+a174656fae71718d137309c5756fe6f48fa99467	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and @DISEASE$ was diagnosed in a 70-year-old man who presented with fever, polyarthralgia, @PHENOTYPICFEATURE$, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	false
+904b03a0818b75573d52127794ff7610511ef38b	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and Kaposi's sarcoma was diagnosed in a 70-year-old man who presented with @DISEASE$, polyarthralgia, @PHENOTYPICFEATURE$, vascular purpura, anemia, generalized lymphadenopathy, and hepatosplenomegaly.	false
+55222f2ddc4e8cebdaf948dfebd1abe68fd001ba	A rare simultaneous occurrence of multicentric Castleman's disease, non-Hodgkin's lymphoma, and Kaposi's sarcoma was diagnosed in a 70-year-old man who presented with fever, polyarthralgia, @PHENOTYPICFEATURE$, vascular purpura, @DISEASE$, generalized lymphadenopathy, and hepatosplenomegaly.	false
+4d853931316a74bdb89b7d46d8d7b9185acac016	We present the case of a 32-year old man with HIV disease, @DISEASE$, lymphadenopathy, @PHENOTYPICFEATURE$ and hemolytic anemia.	has_symptom
+873b3049177e53117c3e9600825162b768c5f4e4	The initial tumor regression rates were faster in patients treated with radiation plus @PHENOTYPICFEATURE$ than in radiation alone, particularly in patients with @DISEASE$ and lymphoma cutis.	has_symptom
+d0a4718a82f4e7621bbcc06c8f28ae550f3ace8e	The initial @PHENOTYPICFEATURE$ regression rates were faster in patients treated with radiation plus @DISEASE$ than in radiation alone, particularly in patients with Kaposi sarcoma and lymphoma cutis.	false
+e7f04d541fd4a1bd53b76a70298543ff66347e7c	The initial @PHENOTYPICFEATURE$ regression rates were faster in patients treated with radiation plus hyperthermia than in radiation alone, particularly in patients with Kaposi sarcoma and @DISEASE$ cutis.	false
+c8effbeb1039d9d504b8419984d96b4f822a3b07	The initial @PHENOTYPICFEATURE$ regression rates were faster in patients treated with radiation plus hyperthermia than in radiation alone, particularly in patients with @DISEASE$ and lymphoma cutis.	false
+b496e10bb4547a1a0146267e88552ab0867760bb	(vii) If HIV were to cause AIDS, it would have a paradoxical, country-specific pathology, causing over 90% Pneumocystis pneumonia and @DISEASE$ in the U.S. but over 90% slim disease, @PHENOTYPICFEATURE$, and diarrhea in Africa.(viii)	has_symptom
+4512d8a4dc5ea9222eccc6f0db3ac414e651f7d1	BA manifests on the skin with violaceous lesions mimicking @DISEASE$, and is associated with @PHENOTYPICFEATURE$, lymphadenopathy, and liver, spleen, or lung nodules.	has_symptom
+0de1bd266a8fb3184711021505b6ea46658e3c40	GABA-transaminase (GABA-T) @DISEASE$ is a rare recessive disorder characterized by abnormal development, @PHENOTYPICFEATURE$, and high levels of GABA in serum and cerebrospinal fluid.	has_symptom
+348e97e72695ba2e316f10a51246fcdbe8b17880	After treatment in children who were diagnosed IMD, the well controlled @PHENOTYPICFEATURE$ and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin @DISEASE$, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each.	has_symptom
+8131d916b0c8ac060b3e4508a0da52a218d3d131	A new juvenile hexosaminidase @DISEASE$ presenting as @PHENOTYPICFEATURE$.	has_symptom
+e1679a5572896406d93b25e7ae6dfe2b6ec0f0fb	@DISEASE$ (MIM 300354) is a recently identified syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) caused by mutations in the CUL4B gene.	has_symptom
+47932890ac5b73c14d78d6191c9a49dd2b505fe8	[@DISEASE$: a type of infantile erythroderma with @PHENOTYPICFEATURE$, immune deficiency, rickets.	has_symptom
+3307822f6a478b0603969a136d0b25ebc02ef19b	@DISEASE$ is a rare disorder characterized by severe ichtyosis, signs of atopy, immune deficiency and @PHENOTYPICFEATURE$.	has_symptom
+9baaf40643ff49fb878a498eebc9cd3ecc66a327	@DISEASE$ is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, @PHENOTYPICFEATURE$ and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic.	has_symptom
+6cce838b52b04a5f136801b1ff7fe558d1d18539	@DISEASE$ (NTS) is an autosomal recessive congenital ichthyosis featuring chronic inflammation of the skin, hair anomalies, epidermal hyperplasia with an impaired epidermal barrier function, @PHENOTYPICFEATURE$ and atopic manifestations.	has_symptom
+6d48b4c23bcf1e4d3faec91e5d0aaebd38afdec4	Severe erythroderma, typified by early onset, skin induration, severe alopecia and @PHENOTYPICFEATURE$, is immediately suggestive of immunodeficiency or @DISEASE$.	has_symptom
+2550684203ddd02dd8d764222631a85dd87ad2d7	Here we report a lethal case of @DISEASE$ presenting with neurologic complications, hypernatremic dehydration, @PHENOTYPICFEATURE$, and episodes of sepsis.	has_symptom
+a634056cd2c075187f5b6931aef33207e4016862	Retinal detachment causing unilateral @PHENOTYPICFEATURE$ in a 12-year-old  girl with @DISEASE$.	has_symptom
+64ecd2af55df8eb50bc6ee3fccf610b14d833f34	Deficiency of omithine-delta-aminotransferase (OAT) causes @DISEASE$ of the choroid and retina with hyperornithinemia (GA; McKusick 258870), a progressive autosomal recessive chorioretinal degeneration leading to early @PHENOTYPICFEATURE$.	has_symptom
+ae0cee3ae3bf8b287ee23c6992cdf1f84b619f97	Deficiency of omithine-delta-aminotransferase (OAT) causes gyrate atrophy of the choroid and retina with @DISEASE$ (GA; McKusick 258870), a progressive autosomal recessive chorioretinal degeneration leading to early @PHENOTYPICFEATURE$.	has_symptom
+3d592a4d8433de98e76fe566cd55afeb87b23aed	@DISEASE$ (GA) is a rare recessive disorder characterized by progressive @PHENOTYPICFEATURE$, chorioretinal degeneration and systemic hyperornithinemia.	has_symptom
+d70ac55d34bfb28cb774fe40e2cbbde0f2a0126f	Gyrate atrophy (GA) is a rare recessive disorder characterized by progressive @PHENOTYPICFEATURE$, chorioretinal degeneration and systemic @DISEASE$.	has_symptom
+d86b3bc7d13f51f3a896a674a2ae3a33985a0d15	Overall, our case series extends the phenotype and suggests that protein kinase C? gene mutations should be considered in patients with slowly progressive @DISEASE$, particularly when myoclonus, dystonia, or mild @PHENOTYPICFEATURE$ are present in the absence of polyglutamine expansion.	has_symptom
+9a718a5f88a8ff39d3b61c7d3be1ffc32bf4f292	These results further support the hypothesis that dopaminergic dysfunction plays an important role in the pathogenesis of AIDS dementia complex (@DISEASE$) and suggest that specific motor and @PHENOTYPICFEATURE$ may be related to depressed dopaminergic activity.	has_symptom
+863ac001c5d5c9d9121d757cda5814e069172573	Results provide support for @DISEASE$ as a stress-reducing environment for individuals with mild to moderate @PHENOTYPICFEATURE$.	has_symptom
+9c893b7bdb7b6f69c077c0c9ec7f439cba42c565	Type I @DISEASE$ (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, @PHENOTYPICFEATURE$, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	has_symptom
+44ba5dd71ea995d8a235e4b9ffc5a7f33b2e1518	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by @PHENOTYPICFEATURE$ with other neurological signs, including oculomotor disturbances, @DISEASE$, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+e3cdf72852854572c1861eb9ed2a2b2613f58cc7	Type I @DISEASE$ (ADCA) is a type of spinocerebellar @PHENOTYPICFEATURE$ (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+5c3d0db05edf72ac766ab24f1a5b947b66dddb26	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar @PHENOTYPICFEATURE$ (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, @DISEASE$, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+7a93da32aa8bc9216121b5547b15e61b0a1b8b20	Type I @DISEASE$ (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by @PHENOTYPICFEATURE$ with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+bb09863de59af96008a7e5f10801d40ae590447c	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+48af3074d68233ec6ae01282e655de47fb44e814	Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (@DISEASE$) characterized by @PHENOTYPICFEATURE$ with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	false
+f5ddd10cc2632a6643f92279f305400cf79f545c	We recruited 44 patients with SVCI and 44 patients with @DISEASE$ (amnestic mild @PHENOTYPICFEATURE$ or Alzheimer's disease) with absent or minimal white matter hyperintensities, all with PiB-positive PET scans [PiB+].	has_symptom
+9309a0787d0352e7c378f51774dd4b548d18372a	The AIDS dementia complex (@DISEASE$, also referred to as HIV-associated @PHENOTYPICFEATURE$) is a common disorder among HIV-infected patients associated with both inflammatory and neurodegenerative processes.	has_symptom
+e9d09ce278533043883b8b8da7c7dabe066c61e7	This is the first report of specific neuronal abnormalities in a child with the @DISEASE$ syndrome and may, in part, account for the clinical features of microcephaly, mental retardation, and @PHENOTYPICFEATURE$ seen in affected children.	has_symptom
+746d3b265998b6cb5bf3ad3a85dfb46377c738d5	This is the first report of specific neuronal abnormalities in a child with the maternal PKU @DISEASE$ and may, in part, account for the clinical features of microcephaly, @PHENOTYPICFEATURE$, and seizures seen in affected children.	false
+d4a677a60ccc3d2140716e288d9a2eb8306b9f11	This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$ seen in affected children.	false
+a6b9f2f4221d9f0e04c65c96db631260023c2eca	This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$ seen in affected children.	false
+be53228cb58947d495525b3eea0e2e31ade5f41f	This is the first report of specific neuronal abnormalities in a child with the maternal PKU @DISEASE$ and may, in part, account for the clinical features of @PHENOTYPICFEATURE$, mental retardation, and seizures seen in affected children.	false
+49e1f6afacbb8fb3b8c9daad23024fcf44246df4	This is the first report of specific neuronal abnormalities in a child with the @DISEASE$ syndrome and may, in part, account for the clinical features of microcephaly, @PHENOTYPICFEATURE$, and seizures seen in affected children.	false
+162b477de754d3eb3a71809617505babef9011aa	This is the first report of specific neuronal abnormalities in a child with the @DISEASE$ syndrome and may, in part, account for the clinical features of @PHENOTYPICFEATURE$, mental retardation, and seizures seen in affected children.	false
+bd3bc009ef2aa0824f6f2f1bec0c5c2a2ce8d308	@DISEASE$ is a rare clinical entity that is associated with soft-tissue or @PHENOTYPICFEATURE$.	has_symptom
+f6a9701377163b1fd1c6a37885493dbc26e6cbc7	Combined pituitary hormone deficiency (CPHD), isolated @PHENOTYPICFEATURE$ (IHH), Kallmann syndrome (KS), and septo-optic dysplasia (@DISEASE$) are genetically related conditions caused by abnormal development of the anterior midline in the forebrain.	has_symptom
+5ad09dfcd5e629dbb833802943d7d2921ea95cb1	Combined pituitary hormone deficiency (CPHD), isolated @PHENOTYPICFEATURE$ (IHH), Kallmann syndrome (KS), and @DISEASE$ (SOD) are genetically related conditions caused by abnormal development of the anterior midline in the forebrain.	has_symptom
+02378e2b643043c51aa9c2ec38800dd250d0c82f	We describe a girl with a severe progressive type of @DISEASE$, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and @PHENOTYPICFEATURE$.	has_symptom
+f95d19b1b7f2d7c50f66b8628cf96e30224e21a5	We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural @DISEASE$, growth failure, and craniofacial findings including @PHENOTYPICFEATURE$, marked frontal bossing, midface hypoplasia, and micrognathia.	false
+57e44bea1ab2cb1f5418eba0342d054ee7c7c037	We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including @PHENOTYPICFEATURE$, marked frontal bossing, midface hypoplasia, and @DISEASE$.	false
+dbde5aaed1fb4a7d19841011445883a480285372	We describe a girl with a severe progressive type of @DISEASE$, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including @PHENOTYPICFEATURE$, marked frontal bossing, midface hypoplasia, and micrognathia.	false
+996c109e5c66fadb56d990c8a8a7c1798d29a74d	The therapy was effective in avoiding neonatal hyperammonemic @PHENOTYPICFEATURE$ and death in seven patients with @DISEASE$, argininosuccinate synthetase deficiency, and argininosuccinate lyase deficiency.	has_symptom
+b3378f955c41d200398206a33350dc13d584514b	During the evolution, besides the cardinal signs, the following features have been observed with a variable frequency: hearing loss, @PHENOTYPICFEATURE$, facial palsy, dysphonia, dysarthria, sweating, orthostatic hypotension, bladder dysfunction, hepatomegalia, The laboratory features are: abnormal Nerve Condition Studies/EMG compatible with a sensory motor neuropathy, lactic acidosis, mitochondrial respiratory chain defect (essentially complex IV deficiency, complex I deficiency or multiple complex defect), MRI @DISEASE$, elevated CSF protein, heart block, ragged-red fibers or increased SDH stain.	has_symptom
+5a0bd1d0ac171b9fa639af31866105b604f726a5	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @PHENOTYPICFEATURE$ and intellectual disability.	has_symptom
+f8c327e905c2f25ac428e8d8ad8fcc98cb0b9454	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by @PHENOTYPICFEATURE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and intellectual disability.	false
+734573ac6c250ccd2342f94fe5e36f6bfffd0410	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with @DISEASE$ (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays and @PHENOTYPICFEATURE$.	false
+8aa21aab3776f64d10c100683b03408248e1938c	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7edc63944140e82426137d1bee4ac5f6e950c00b	De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in individuals with Bainbridge-Ropers syndrome (BRS), characterized by @PHENOTYPICFEATURE$, global developmental delay, feeding problems, hypotonia, dysmorphic features, profound @DISEASE$ and intellectual disability.	false
+f8d5c72924ba44034822af6b461a8ec29ba5aa12	In addition to dysmorphic features and @PHENOTYPICFEATURE$, there were profound developmental delays and a finding of vacuolated lymphocytes on blood smear, which led to a diagnosis of @DISEASE$ (Inclusion [I]-cell disease).	has_symptom
+b03af606f6d21eced3377881500b081b2767d7fc	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	has_symptom
+5af7d213aa09393a0011959318fad891d33b95ff	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	has_symptom
+77d09409243d6fbefcd47fda344b74bbbf3a3da8	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+1e5618379d2f90b1d040b31a90f42be4ceea6f8e	Two unrelated patients with @PHENOTYPICFEATURE$, @DISEASE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+1d740519847ee4a4c6f7cf0b9a071b018950a52d	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	false
+bc69ddac1fc985e89cf390b7fc59856940399db9	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+ed0d55e9f89cf79c43b449a55bcf5fd9e7daa7d9	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a @DISEASE$ (Lhermitte-Duclos disease).	false
+7be5cdf97b699d15f4057694c7d308f575ec4bfb	Two unrelated patients with macrocephaly, @DISEASE$, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+5d64bef598e4c0031426af8ea764a6d8a5bc5a13	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, and autism.	has_symptom
+b38bc213dc2701fa5ceeb2b430b5a72cd1465c0f	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2eeaee7aac6ace4a635045b6126d3a421e6345f1	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, Lhermitte-Duclos disease, and autism.	false
+db5a69ea7332d640e1e7f6972f12832b52753df5	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @DISEASE$, Lhermitte-Duclos disease, and @PHENOTYPICFEATURE$.	false
+41c66c5d37502306319b45efa471e47e6e2711aa	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, @DISEASE$, and autism.	false
+4ffe7bbd5038fb9e28a83b078dce4d9cbb4b3633	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and @PHENOTYPICFEATURE$.	false
+bff328e29a3861c6941b37201353598c517f3ce8	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, @DISEASE$, Lhermitte-Duclos disease, and autism.	false
+33e9034e441f961c23a8d8dc77b4b0c6122ad794	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	has_symptom
+4c40b73523ee3674330a624d33cc91c25a4a8574	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	has_symptom
+b7d1a6f116e7cf8fd504f955addbc15729436964	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+1b924bceef3ca283b1682843a53c63541bc0391f	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, @DISEASE$, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+b46d632a7b72bc635a22723c94dd627972f9eb95	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+250bf9a36d5d6ac5c438c3e54785aa6504a86665	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @DISEASE$, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+5a2a389451469c27a6e5b1e6b56bdba31cc3f7ea	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+aca1759942408020104b3543116734c76520e399	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+e40baf17e8885229cee36bf6f3097af1ef6cc7d1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	has_symptom
+0c6ddd029220a90bd40d9cfefc9f558180f6e9c1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	has_symptom
+cf12c6e942d83c55436d1afd357eb07b13de39d7	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, @DISEASE$ and autism, in addition to cancer predisposition.	false
+2141f2174d207400e37dcf08a90ab4d827aba38e	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+c62a128bbf63f7f29bc095f2e26f13e362ba4758	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+4bc69c2a7ca718490b2d5fc68192491fef78cfd3	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @DISEASE$ and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+ce9e2b1f72a7428d59381618323b30c7d2e16a20	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to @DISEASE$ predisposition.	false
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+bbf7dc61a70bbd87cc1b8cdcfa46ccf8e430f642	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to @DISEASE$ predisposition.	false
+3fe84be3687a0c679caa85e0caa6f58b0f603e99	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+8d117851fdd81d29481ffa30020aa2a2efe940f5	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+bc959c5815d5f0da03df276dfa7b39be76d04620	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @DISEASE$ and autism, in addition to cancer predisposition.	false
+b22897e880bbdd50ace23dc91daeb02d58864182	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to @DISEASE$ predisposition.	false
+0a75daac10049b1d4cc044065cb0f29a355d6baa	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+2b1944b8ab5072dea9b35aa7ec1f6bd84e3cfc6c	Deletion of Pten in mouse brain causes @PHENOTYPICFEATURE$, ataxia and defects in soma size resembling @DISEASE$.	has_symptom
+5439cfb9f8b5832d846755577b31152b0c23377a	Deletion of Pten in mouse brain causes @DISEASE$, @PHENOTYPICFEATURE$ and defects in soma size resembling Lhermitte-Duclos disease.	false
+5b5b342a5572e087dca6f985bc604447e80cd66a	Deletion of Pten in mouse brain causes seizures, @PHENOTYPICFEATURE$ and defects in soma size resembling @DISEASE$.	false
+5fc67496cf483176bb6ff0d4b3497459a620196c	To examine the nature of @PHENOTYPICFEATURE$ in patients with a variant form of @DISEASE$ (CLN5), we studied 12 patients (age range 7-32 years).	has_symptom
+f3f6fa37579f9ca7f9296f4cb208220b853fe657	The aim of this study is to describe a case of @DISEASE$ (LDD), which is an extremely rare cause of @PHENOTYPICFEATURE$.	has_symptom
+9077b765339ef68fd78720c100923bccda18d217	The aim of this study is to describe a case of Lhermitte-Duclos disease (@DISEASE$), which is an extremely rare cause of @PHENOTYPICFEATURE$.	has_symptom
+861e467816def05a9c2b2dece93fad40435a8259	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, mental retardation, and self-limited seizure disorder.	has_symptom
+d7b72a54ecc422cf96b28278dfd4fb2daa03d581	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @DISEASE$, @PHENOTYPICFEATURE$, and self-limited seizure disorder.	false
+ba369e86823aeeb00e9826de3a46f2b9b5ad6ad2	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, @PHENOTYPICFEATURE$, and self-limited seizure disorder.	false
+6926e607c16813b0fabcc5f8c63da29e4e1009ec	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, @PHENOTYPICFEATURE$, and self-limited @DISEASE$.	false
+aca1759942408020104b3543116734c76520e399	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and Lhermitte-Duclos disease (also described as @DISEASE$).	has_symptom
+b7d1a6f116e7cf8fd504f955addbc15729436964	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, @PHENOTYPICFEATURE$ and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	has_symptom
+f842b6a52139b406076de437b2251698aca8ac50	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, @DISEASE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+33e9034e441f961c23a8d8dc77b4b0c6122ad794	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+b46d632a7b72bc635a22723c94dd627972f9eb95	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+7a0a73a64ea47f7b1b9b310c2ec0edfc1e0cbfa8	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, @DISEASE$ and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum).	false
+5a2a389451469c27a6e5b1e6b56bdba31cc3f7ea	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as @PHENOTYPICFEATURE$, seizures, ataxia and @DISEASE$ (also described as dysplastic gangliocytoma of the cerebellum).	false
+4c40b73523ee3674330a624d33cc91c25a4a8574	Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, @PHENOTYPICFEATURE$, ataxia and Lhermitte-Duclos disease (also described as @DISEASE$).	false
+0a75daac10049b1d4cc044065cb0f29a355d6baa	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	has_symptom
+c62a128bbf63f7f29bc095f2e26f13e362ba4758	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	has_symptom
+7fabc9b77fe4a1361925710d880c4d68bdc3366d	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to @DISEASE$ predisposition.	false
+2141f2174d207400e37dcf08a90ab4d827aba38e	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+eca21f3670ea64c614377b640b80c9421ceb4582	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @DISEASE$, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+ce9e2b1f72a7428d59381618323b30c7d2e16a20	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to @DISEASE$ predisposition.	false
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+1407dce2fc17ddbf3a8464c86b72764b854a8bca	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @DISEASE$, seizures and autism, in addition to cancer predisposition.	false
+e40baf17e8885229cee36bf6f3097af1ef6cc7d1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+bbf7dc61a70bbd87cc1b8cdcfa46ccf8e430f642	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to @DISEASE$ predisposition.	false
+3fe84be3687a0c679caa85e0caa6f58b0f603e99	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+8d117851fdd81d29481ffa30020aa2a2efe940f5	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+0c6ddd029220a90bd40d9cfefc9f558180f6e9c1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+b09e2de6182bc6fe1729d5d6e1f4578dc4ea58a5	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @DISEASE$, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+5b5b342a5572e087dca6f985bc604447e80cd66a	Deletion of Pten in mouse brain causes seizures, @PHENOTYPICFEATURE$ and defects in soma size resembling @DISEASE$.	has_symptom
+d39879bafc5d59d19398072493c83863dd646206	Deletion of Pten in mouse brain causes @PHENOTYPICFEATURE$, @DISEASE$ and defects in soma size resembling Lhermitte-Duclos disease.	false
+2b1944b8ab5072dea9b35aa7ec1f6bd84e3cfc6c	Deletion of Pten in mouse brain causes @PHENOTYPICFEATURE$, ataxia and defects in soma size resembling @DISEASE$.	false
+537fbff6a36ed8e392f5dbc0386c1e540467321c	Cowden syndrome with @DISEASE$ presenting as @PHENOTYPICFEATURE$.	has_symptom
+d484a175a059f77c500c76e4956261803b6fe005	@DISEASE$ (LDD) cosegregates with a subset of CD families and is associated with macrocephaly, @PHENOTYPICFEATURE$ and dysplastic cerebellar gangliocytomatosis.	has_symptom
+14f43803ec2dc3d27d46eae0ff1f84ec6ca605d8	Lhermitte-Duclos disease (@DISEASE$) cosegregates with a subset of CD families and is associated with macrocephaly, @PHENOTYPICFEATURE$ and dysplastic cerebellar gangliocytomatosis.	has_symptom
+0da092b03fb945715d6074d8289e429ce77def30	Lhermitte-Duclos disease (@DISEASE$) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, ataxia and dysplastic cerebellar gangliocytomatosis.	false
+14495f484719df8e59a571c80b8c840f936df165	Lhermitte-Duclos disease (LDD) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, @DISEASE$ and dysplastic cerebellar gangliocytomatosis.	false
+4ba6f25e32316d50f16bd77c94956b5a5b2b5cfc	@DISEASE$ (LDD) cosegregates with a subset of CD families and is associated with @PHENOTYPICFEATURE$, ataxia and dysplastic cerebellar gangliocytomatosis.	false
+62e4b0e5fe7e6e764ee50db74e2a80dbd4cd751f	The neuronal ceroid lipofuscinoses (@DISEASE$) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, @PHENOTYPICFEATURE$, seizures and visual loss secondary to retinal dystrophy.	has_symptom
+71d43d9da03cf9f1985429f1f1e6c012cd8308e6	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and @PHENOTYPICFEATURE$ secondary to @DISEASE$.	false
+c6e420877bf890a59d017aa06c3ff035fbb6d332	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, @DISEASE$, @PHENOTYPICFEATURE$ and visual loss secondary to retinal dystrophy.	false
+2e2d7e232cfe1c8af791d7371b1b543ff8650809	The neuronal ceroid lipofuscinoses (@DISEASE$) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and @PHENOTYPICFEATURE$ secondary to retinal dystrophy.	false
+16e942a378ab8a610e5170164dc0fb8fbe03b478	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of @DISEASE$ causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and visual loss secondary to retinal dystrophy.	false
+112900cf9d4afdd415d0fe7f250ed12bc0e091e2	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and visual loss secondary to @DISEASE$.	false
+68ccbb9898bdf1d2d4560e5766321e9c86cc9e20	The neuronal ceroid lipofuscinoses (@DISEASE$) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and visual loss secondary to retinal dystrophy.	false
+be9d711d24ea4220fc4fc8be658c00cd6378e5a2	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of @DISEASE$ causing progressive neurological failure, mental deterioration, seizures and @PHENOTYPICFEATURE$ secondary to retinal dystrophy.	false
+a57bf79bf9e8b0093555078f72ecfa0211b44b82	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, @DISEASE$, seizures and @PHENOTYPICFEATURE$ secondary to retinal dystrophy.	false
+e82dfe2532cce0b614105bb90d0f6c27231a8e2a	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+6e2480eb4de4af034f0ba30df015761adfbcb1f7	@DISEASE$ (CSS) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+3fec9fdc7105efd5dbdade89d1a075be8de0b715	Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, @DISEASE$, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+797aa8c65e08adf36089babe3bfa614bf38206ca	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+606b61462e42556861b0e1de3840a1250e793e86	@DISEASE$ (CSS) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+4c50418afa5608e716b80952b54efaa7026c9ac5	Coffin-Siris syndrome (CSS) is characterized by growth deficiency, @PHENOTYPICFEATURE$, @DISEASE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+4c3d0601ecaea938c1a56c48d0a35e0e10776b10	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+ae69cd6907120ac84d3f3046dd90e3f0629e78a4	@DISEASE$ (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+103b44737bac4c300210798cb575db64ac5a4782	@DISEASE$ (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, @PHENOTYPICFEATURE$, and abnormalities of the fifth fingers/toes.	has_symptom
+b14c1dcfe835e2af9f52cff8456e31bf1d1c3e6a	Coffin-Siris syndrome (@DISEASE$) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, @PHENOTYPICFEATURE$, and abnormalities of the fifth fingers/toes.	has_symptom
+7e6d937a0fffccd7c73c4b0b56c6ecf115ba9997	Coffin-Siris syndrome (CSS) is characterized by @PHENOTYPICFEATURE$, dysmorphic facial features, growth deficiency, @DISEASE$, and abnormalities of the fifth fingers/toes.	false
+6c202178914d360276ba272d3ed156c922ce62d2	Coffin-Siris syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes.	false
+07ee326d218f1212f1803bfa6a273010a3db8586	@DISEASE$ (CSS) is characterized by @PHENOTYPICFEATURE$, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes.	false
+5273b039af7fab5997ab17fb29ddbe3e02166cf1	Coffin-Siris syndrome (CSS) is characterized by @PHENOTYPICFEATURE$, dysmorphic @DISEASE$ features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes.	false
+d89ce33c908890f61aca2f328015200104515750	These individuals had @PHENOTYPICFEATURE$, developmental delay and shared dysmorphic features compatible with mild @DISEASE$.	has_symptom
+b772263ee1890975dbddba40e605d841e4e96a3c	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of @DISEASE$, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, @PHENOTYPICFEATURE$, and characteristic facial features including a wide mouth and prominent lips.	has_symptom
+c1ef841a91d084ce8d3fb90d954b5b229e67ab4a	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability @DISEASE$ with associated features of @PHENOTYPICFEATURE$, microcephaly, and characteristic facial features including a wide mouth and prominent lips.	false
+bc97d4ae6adbfbdc8b87792558e576623e00f2ff	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an @PHENOTYPICFEATURE$ @DISEASE$ with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips.	false
+de305d7e64a49aa542408fff0f5562e17117c957	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of @DISEASE$, OMIM 615866, an @PHENOTYPICFEATURE$ syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips.	false
+bffb54ff6ba1b7f852ad2ac3b003b609cfc06cdd	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of @PHENOTYPICFEATURE$, @DISEASE$, and characteristic facial features including a wide mouth and prominent lips.	false
+aa209b38dce57b6201b0fa26e518fedfc7c2eeb7	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of @DISEASE$, OMIM 615866, an intellectual disability syndrome with associated features of @PHENOTYPICFEATURE$, microcephaly, and characteristic facial features including a wide mouth and prominent lips.	false
+2d2c689748f59f45afe78c1d44a926270e7f84a4	Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an @PHENOTYPICFEATURE$ syndrome with associated features of nail hypoplasia, @DISEASE$, and characteristic facial features including a wide mouth and prominent lips.	false
+1a6da1369f0115e4a58701908722989f8d3275fb	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by intellectual disability, growth deficiency, @PHENOTYPICFEATURE$, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	has_symptom
+c23649e46f04c69da59e225c531ee668a0872057	@DISEASE$ (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, @PHENOTYPICFEATURE$, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	has_symptom
+97903ab20c9ba5017cdc487a2c7a2e49ffaf7771	@DISEASE$ (CSS) is a congenital disorder characterized by @PHENOTYPICFEATURE$, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	false
+b05d4e86416b9175c6ca2208e41af454fe2c2e2d	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by @PHENOTYPICFEATURE$, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	false
+4b3cbe330d44579ac6350111e8a7bbffb7dac792	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by @PHENOTYPICFEATURE$, growth deficiency, @DISEASE$, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails.	false
+5c6cebac4d40c81a80ee135e1ff196702f234ede	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+5b82249c9528515a75e97b87c509b5ead00bc2ec	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	has_symptom
+695beffd59ac7b0c7bf0c5bab657dde1c3070f66	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+7748852f3550717859a3722bfe00504c00e57991	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, @DISEASE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+4242fa68ba2a5b0f562a8f09c4e9e3af285b2537	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+c05863ca0e817a5d56f56c9b4f7cc16ffa7a5479	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+6a1102f693896ed6fd4a8ec02915f1820530df46	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+a6a57a84818a4e3aa4d869ed93329913b7d2a726	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, @DISEASE$, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	false
+d5b3cfee50402f1377615b44e2f2b0c4ca1f0950	We report two unusual presenting manifestations of @DISEASE$ (WAS), recurrent acute hemorrhagic edema of infancy (AHEI); a form of cutaneous vasculitis and @PHENOTYPICFEATURE$ of the tibia.	has_symptom
+38e955c5632c48b8898300170da2afcb1e9b0efd	We report two unusual presenting manifestations of Wiskott-Aldrich syndrome (WAS), recurrent acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI); a form of @DISEASE$ and hyperostosis of the tibia.	false
+b995bd84cea28da5e3ff23e219c8bfb0768afc5e	We report two unusual presenting manifestations of @DISEASE$ (WAS), recurrent acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI); a form of cutaneous vasculitis and hyperostosis of the tibia.	false
+d8085c777b38daf32eb4e950c9ff11bfc26251aa	We report two unusual presenting manifestations of Wiskott-Aldrich syndrome (WAS), recurrent acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI); a form of cutaneous vasculitis and @DISEASE$ of the tibia.	false
+aa892e877f6ce318525f1c90aafebb237453ed2c	@DISEASE$ presenting with early onset recurrent acute hemorrhagic edema and @PHENOTYPICFEATURE$.	has_symptom
+a69265bf84b6f306a9277dafdd5dc7a98d97e230	Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7bdda0e9b8e901b8c623a8ce4a73dfcb63068bb6	@DISEASE$ presenting with early onset recurrent acute hemorrhagic @PHENOTYPICFEATURE$ and hyperostosis.	false
+8be4b6d5a01acb30702d8f01003a5da5629b7dfb	@DISEASE$ (MWS) is a mental retardation syndrome associated with distinctive facial features, @PHENOTYPICFEATURE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	has_symptom
+6c8cae737f9727a395d5c230de7d4de9fe420501	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including @DISEASE$ (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+a626693d447215994889b585ce5ec1062fe36131	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ @DISEASE$ associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+d0c5f6f89cfba2af79eaa5e2497769d550638d14	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, @DISEASE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+391f64ad1d9dd6cf7a577359e4bdfb561556c168	Mowat-Wilson syndrome (MWS) is a mental retardation @DISEASE$ associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and congenital heart disease.	false
+d7944755161c885657efbc9677c995be236be068	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and @DISEASE$.	false
+e3a5fe99abfc389f6ffa83aef50bc7f00ab1d751	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of @DISEASE$, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+21a554e66aa9628e329044cdd1a0081acae269ec	@DISEASE$ (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and congenital heart disease.	false
+813bf0edf4acbb2822139c746938d97b537144b2	@DISEASE$ (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.	false
+5a1ae80e7862794357484785197ac5d43b9491dd	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of @DISEASE$, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and congenital heart disease.	false
+d9df8ddcf2950d424c14d963f3b5e68179c27255	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, @DISEASE$, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and congenital heart disease.	false
+95bd05fb073eb06b604b1aec16a277d8cfb213c9	Mowat-Wilson syndrome (MWS) is a @PHENOTYPICFEATURE$ syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and @DISEASE$.	false
+cadd1c38644cd461f4373c644b8043fd6db62795	Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including @DISEASE$ (HSCR), @PHENOTYPICFEATURE$, genitourinary abnormalities, and congenital heart disease.	false
+5e19aa8858f203aed105c931a04a2ac12708fe27	@DISEASE$ (MWS) is characterized by severe intellectual disability, absent or impaired speech and @PHENOTYPICFEATURE$, with a gradual post-natal onset.	has_symptom
+7e77e9153605dc13a9ff1c8fe0b5ee19c80e264d	Mowat-Wilson syndrome (MWS) is characterized by severe @PHENOTYPICFEATURE$, absent or impaired speech and @DISEASE$, with a gradual post-natal onset.	false
+8128de57aea379e8d72b38fed084d8f265ad2dba	@DISEASE$ (MWS) is characterized by severe @PHENOTYPICFEATURE$, absent or impaired speech and microcephaly, with a gradual post-natal onset.	false
+f1f7144827a186f9f72548b3e1aeb3fb1db17ebb	@DISEASE$ (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, @PHENOTYPICFEATURE$, and distinct facial features.	has_symptom
+46648daa8a50ac951ebfddc200b4a3186fd35a1d	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple @DISEASE$ disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, microcephaly, and distinct facial features.	false
+7ca82166df02e29b44e519be47373f59718d5c84	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple @DISEASE$ disorder characterized by @PHENOTYPICFEATURE$, seizures, microcephaly, and distinct facial features.	false
+e0988b2defa72dbd003edf90329e1b234fe3c014	@DISEASE$ (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, microcephaly, and distinct facial features.	false
+be4a3f41c51dc8c64d041504afd80ace0c68d594	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by @PHENOTYPICFEATURE$, seizures, @DISEASE$, and distinct facial features.	false
+6f13eaba5ecccbb18d5fbfbe86a2845994ae6da4	Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, and distinct facial features.	false
+595c9f3ee727c2017fa6e436330b65def98a35c6	@DISEASE$ (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by @PHENOTYPICFEATURE$, seizures, microcephaly, and distinct facial features.	false
+4ce24e456fab55728f3f6bb3824886e51289846a	Mutations in the human transcription factor gene ZEB2 cause @DISEASE$, a congenital disorder characterized by multiple and variable anomalies including @PHENOTYPICFEATURE$, Hirschsprung disease, intellectual disability, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	has_symptom
+fd395450745ceb7f19b0dd9ea8096f60d7dd56db	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including @DISEASE$, Hirschsprung disease, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+ff308600e0e9184dfd8f7ed01219715f28fe126f	Mutations in the human transcription factor gene ZEB2 cause @DISEASE$, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+1730cc7329b7ac4884b7148b58d5012ba54c8f8a	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including @DISEASE$, Hirschsprung disease, intellectual disability, epilepsy, @PHENOTYPICFEATURE$, retinal coloboma, and/or optic nerve hypoplasia.	false
+8d2a1cc17cfb7234e7699afd729d70698c3289e7	Mutations in the human transcription factor gene ZEB2 cause @DISEASE$, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, @PHENOTYPICFEATURE$, retinal coloboma, and/or optic nerve hypoplasia.	false
+50a7d3db030291c787c5adb567cdd44dad4cedac	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, intellectual disability, epilepsy, @PHENOTYPICFEATURE$, retinal @DISEASE$, and/or optic nerve hypoplasia.	false
+d0eec84c489376967a767b2f0e83fa7101ec0105	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, @DISEASE$, intellectual disability, epilepsy, @PHENOTYPICFEATURE$, retinal coloboma, and/or optic nerve hypoplasia.	false
+6672e8debe7dc3a9300e7f474bfbef37bfa44f8f	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal coloboma, and/or optic nerve hypoplasia.	false
+536dde61ee44685992c52fbd9fd485fcb94bac3c	Mutations in the human transcription factor gene ZEB2 cause Mowat-Wilson syndrome, a congenital disorder characterized by multiple and variable anomalies including microcephaly, Hirschsprung disease, @PHENOTYPICFEATURE$, epilepsy, microphthalmia, retinal @DISEASE$, and/or optic nerve hypoplasia.	false
+66a5fc3337ed118d5659b4d294a7c9e15a11192d	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @PHENOTYPICFEATURE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	has_symptom
+a2715b7360390785312786ac7e70fa6ac1204ec0	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+ba7848f0e8990db7afe256697934ed97c20ccbba	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+37f001217840c9540261f3c4f26f4801937a33b3	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+5251b972ae1123a9e719c5bab82ebb0343b988e3	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+bdead15ab1c60bb4daa998d8802d688fa4206a2e	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @DISEASE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+97923441c8efa264aa99ed781e5b625d7771335a	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/renal anomalies.	false
+6ad2489d942fd1274eb7816de4607ed9792c094c	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+2b96ee236dad7031ebb78041e00460bd921b798f	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, @DISEASE$, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+1477809ff70190aa4ee260fbb90f3f94b9caf03c	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, Hirschsprung disease, and urogenital/renal anomalies.	false
+912cf7c0e3f077adf19012bb8397ea657349b121	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+fa79c8ef3a38572037d8835b691d5b06637b8ef3	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, @DISEASE$, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+6f1cca1dcb00d281882a143ea3ad4c9a43f378cf	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by moderate or severe @PHENOTYPICFEATURE$, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies.	false
+eca3238cebd72f517bbd40bf77ec2dbe206ee6e0	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/@PHENOTYPICFEATURE$.	false
+d53c701e2fcba4cc6e20f7a59b778198476c366e	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, @PHENOTYPICFEATURE$, @DISEASE$, and urogenital/renal anomalies.	false
+4bb2d36db2132683fc30d1bb2c367a1ca5de1f2f	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, @DISEASE$, and urogenital/@PHENOTYPICFEATURE$.	false
+b4560ba8ad63ff758a02bce9608d0aec2cf74aa5	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @PHENOTYPICFEATURE$, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	has_symptom
+38bee22acda5fe88623e9c7fa45d2ef2dda0b4d8	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+4aad0b5dd6be18a4b330768b3917028a12ea38b0	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly @DISEASE$, commonly associating microcephaly, epilepsy, @PHENOTYPICFEATURE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+0d150a5e94d90adb32fc4c0e96cb4b48cbd6ddc0	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple @DISEASE$ syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+65c184a23d56a92a81b5328fde23e271bbc14c49	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and @DISEASE$ (HSCR).	false
+192700d0453e4f6b8c7f16c25b1ba96925137c08	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @DISEASE$, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+e5871b2fb8dc43592eaddbef6aa81b8e8f6f6a17	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly @DISEASE$, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+6bd498b79d2d59c079858f222435edb309ea7b62	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly @DISEASE$, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+7d138d8e5653230bdd28353da8a6eae7850fb09b	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple @DISEASE$ syndrome, commonly associating microcephaly, epilepsy, @PHENOTYPICFEATURE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+7270bd323635519e9ff7a31232920b5342909893	Mowat-Wilson syndrome (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @DISEASE$, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+9d31b381940758d93917cbab19ec34ab4597787a	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, @PHENOTYPICFEATURE$, conotruncal heart defects, urogenital malformations and @DISEASE$ (HSCR).	false
+ecea6fe91482928f1f78c296c552a9810320a812	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and @DISEASE$ (HSCR).	false
+f30429998cc267ac2d3feac106097c4dd596d149	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, @PHENOTYPICFEATURE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+f000af195aad2ff9c553357f2b69441049ff73b0	@DISEASE$ (MWS) is a severe @PHENOTYPICFEATURE$ (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+097814c530aaa2299fd33b6b3c5b72015bc582b0	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).	false
+e175b31e0f43c77e835b7cc6eaeb062b1eec6ee3	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple @DISEASE$ syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+1d658147757ba2181d0ee29e3bb546b5f4e8fbe9	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and @PHENOTYPICFEATURE$.	has_symptom
+17732fa5b078fa7f1d4266be627efbd801d5d8dd	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+be42930d0c33e7e5125c3f2984b79a69ad7c19bd	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and @DISEASE$.	false
+f89a78e42744530eadc3a33b0d00c682b45c9a4c	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and @DISEASE$.	false
+feabc004cd1107e8a16238fddefa37b30bc4d98e	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural @DISEASE$/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+fa98902e495690acfd67418592c238867d86bbf4	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+951fd713bf662ea4df04453e11fde46722d9d952	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+74e69243888eb85127beb26871ad7dbf0f1e2077	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including @DISEASE$, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+dfcfc96db93dc1779201666e703cccf67cd0eecc	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, epilepsy, and microcephaly.	false
+60663483fff010db0697f0289a8d028f677679c6	Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, @DISEASE$, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+2da5b70df189e206a2136a1eaebe1012e0653b62	@DISEASE$ (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, @PHENOTYPICFEATURE$, short stature, epilepsy, and microcephaly.	false
+a81d2437049dd3b6cd93b5a52059c6272b13e401	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+d635b401810574c39cdd6040d0697c6c27921a42	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, @DISEASE$, microcephaly and @PHENOTYPICFEATURE$.	false
+8b2718166f099446741d87f99ae92b656a56fb30	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and @PHENOTYPICFEATURE$.	false
+2cd7110b07fdfe0e1cecbb2bc6855e3b478e205d	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and @PHENOTYPICFEATURE$.	false
+ec3721932fd816dbc720b1aba15657c39254a419	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and @PHENOTYPICFEATURE$.	false
+4bf4bd7532f277bfd80c87c8a4b7420bac2b072c	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8ddddc60d36c3ec556eb3f7415a1653a996cfc59	We report a girl who had Hirschsprung disease in association with distinct facial appearance, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation (@DISEASE$).	has_symptom
+07eb1a21d32df5b3deff9ef596b259c09c69d4be	We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, @PHENOTYPICFEATURE$ and mental retardation (@DISEASE$).	false
+b6b8c71b092cf32119dd356b91b04fd703209c2b	We report a girl who had Hirschsprung disease in association with distinct facial appearance, @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation (Mowat-Wilson syndrome).	false
+68f89bfe7e9e3ccd114d640cedc5deaa60c54b7c	We report a girl who had Hirschsprung disease in association with distinct facial appearance, @DISEASE$, agenesis of the corpus callosum and @PHENOTYPICFEATURE$ (Mowat-Wilson syndrome).	false
+2319adfb8ba09e00756a47feb381feeaa3cc08b7	We report a girl who had Hirschsprung disease in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+234e417a25e0b4fbec67a095a8596c753ae63541	We report a girl who had @DISEASE$ in association with distinct facial appearance, microcephaly, agenesis of the corpus callosum and @PHENOTYPICFEATURE$ (Mowat-Wilson syndrome).	false
+95a270efc6dc154ccee6e74b43265a07efb9aa7a	We report a girl who had @DISEASE$ in association with distinct facial appearance, microcephaly, @PHENOTYPICFEATURE$ and mental retardation (Mowat-Wilson syndrome).	false
+0c915ba6a21d1d71056c1da5d42d9f535efbe699	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	has_symptom
+61bdf1c314cfeb926f47c256aa5a2126cf5a9ace	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, @DISEASE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+cd919347c5f063ad849dfe2e4452b67eb2873cb8	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+5bbd8a59072b11d5d675ffbdcfbb72b9ca773ad3	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4a371e302880e82102954e9f044308de7d4fd93d	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+5e925c8f11b7a0351e1cd62d5f54046c8bbe4c5f	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+59bd40ba4665a6477c970342eb704298bcc9d333	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @DISEASE$, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+38c646981fa73c852b0ddd4d9796078b870d74a9	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+2fd11bca605828e0bf07a7ff6ad88ce153503b62	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+806ec5cfc6ceaa03ec7c4aa48ee4934541889e90	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+b5eac832cbb5f89e6ab09f165a19e9e017ddaee7	Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-@PHENOTYPICFEATURE$, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, @DISEASE$, and genital anomalies.	false
+3b3327dee41b1c89db65f6cbe8bd91acbfc14813	Mowat-Wilson syndrome is a @DISEASE$ characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+3f4685cd9e6e083b56b1ab803c0f1011b329f237	@DISEASE$ is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, @PHENOTYPICFEATURE$, Hirschsprung disease, congenital heart disease, and genital anomalies.	false
+1dc373dbbf7d3a17c518c0da7a6f0b14ac383482	@PHENOTYPICFEATURE$ and @DISEASE$ were present in two of the cases.	has_symptom
+06d96815d309798f596a485b8c7dfa3ca700f321	@DISEASE$ as a cause of childhood @PHENOTYPICFEATURE$.	has_symptom
+cac4d54912492914ae4496331d813418d2f16a26	We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), @DISEASE$ (DGS), @PHENOTYPICFEATURE$ and optic nerve head drusen (ONHD).	has_symptom
+8d044104674a018e3610a4acae7a16b66de3e80f	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including @PHENOTYPICFEATURE$, mental retardation, intracranial calcification, and epilepsy.	has_symptom
+8db9a614329a70aeae120f3c8c60220e10c4b4e4	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+1924d0812dd421de1cb89246e9ae425648459f30	Patients with SSS display a variety of dysmorphic features and neurological manifestations, including @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+55c7795417443858486be7d3142d4d1349a27676	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including microcephaly, @PHENOTYPICFEATURE$, intracranial calcification, and epilepsy.	false
+2b52f06e7ec1fc2a3db1169741e0a7a6906b3c0f	Patients with SSS display a variety of dysmorphic features and neurological manifestations, including @DISEASE$, @PHENOTYPICFEATURE$, intracranial calcification, and epilepsy.	false
+d7fafc170182a1c0c7956096d430024bd5bea417	Altered splicing of ATP6AP2 causes X-linked parkinsonism with @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+d41c8bec4f03cc0a7368951961a6bd7639019009	A deletion mutant of ATP6AP2/PRR, which lacks exon 4-encoded amino acids inside the ECD (?4M) and causes X-linked mental retardation Hedera type (MRXSH) and X-linked parkinsonism with @PHENOTYPICFEATURE$ (@DISEASE$) in humans, was defective as a V-ATPase-associated protein.	has_symptom
+a387bd8859070340a82c99ea7a13f2261f7727e9	A deletion mutant of ATP6AP2/PRR, which lacks exon 4-encoded amino acids inside the ECD (?4M) and causes X-linked @PHENOTYPICFEATURE$ Hedera type (MRXSH) and X-linked parkinsonism with spasticity (@DISEASE$) in humans, was defective as a V-ATPase-associated protein.	false
+091b28aa86f0cbd5dee3073d171bd6a286473bcc	A deletion mutant of ATP6AP2/PRR, which lacks exon 4-encoded amino acids inside the ECD (?4M) and causes X-linked @PHENOTYPICFEATURE$ Hedera type (MRXSH) and X-linked parkinsonism with @DISEASE$ (XPDS) in humans, was defective as a V-ATPase-associated protein.	false
+a895029b96711a0a0a6261cb539e52728a52d05b	The spectrums of associated abnormalities in the @DISEASE$ growth retardation with sensorineural deafness and @PHENOTYPICFEATURE$ syndrome (OMIM no.	has_symptom
+51afd6ae22937c6ef3f6a16ec982107e6083aa1d	The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with @PHENOTYPICFEATURE$ and mental retardation @DISEASE$ (OMIM no.	false
+aab1b0205761ac00b895549a201fce87f50742c6	The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with @PHENOTYPICFEATURE$ and @DISEASE$ syndrome (OMIM no.	false
+21bf4a2b73b6d832c4385c33dbf82617e4ceab67	The spectrums of associated abnormalities in the @DISEASE$ growth retardation with @PHENOTYPICFEATURE$ and mental retardation syndrome (OMIM no.	false
+061326782c0d86a2bc9b70719b4221496961727a	We found the low prevalence of AIDS-defining illnesses in central neural system in this study, including @DISEASE$ (4.4%), cerebral toxoplasmosis (3.5%), tuberculosis @PHENOTYPICFEATURE$ (3.2%), cryptococcal meningitis (2.4%) and CMV encephalitis (1.1%).	has_symptom
+ef5e71bf1c9956f2a89be3ff1a5557a3583c26eb	deletion (del22q11.2) syndrome (DiGeorge syndrome/@DISEASE$) is a common syndrome typically consisting of congenital heart disease, @PHENOTYPICFEATURE$, developmental delay and immunodeficiency.	has_symptom
+691b46cd75bd5a90b79c4bfe549a188a616a3d37	results in a spectrum of disorders, including DiGeorge syndrome (DGS) and @DISEASE$ (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and @PHENOTYPICFEATURE$.	has_symptom
+de7acf8ae67ac87a27000a197ae7103f1661dd82	@DISEASE$ (22q11DS) is characterized by conotruncal cardiac defects and hypoplasia of parathyroid glands and thymus, which result in variable @PHENOTYPICFEATURE$ (HPT) and immune deficiency.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5fc67496cf483176bb6ff0d4b3497459a620196c	To examine the nature of @PHENOTYPICFEATURE$ in patients with a variant form of @DISEASE$ (CLN5), we studied 12 patients (age range 7-32 years).	has_symptom
+c518880e86ad4ea8fa6f7633a603163c042caf54	@DISEASE$ (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and @PHENOTYPICFEATURE$ and multiple vertebral anomalies.	has_symptom
+4060ef84550955af3aedb083c3a3beaaedfc4349	Jarcho-Levin syndrome (spondylothoracic or @DISEASE$) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+7e6324b57182622701c801fe4f76d3460e028a49	@DISEASE$ (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+5268a486a468884b247f69c2797392da01a0d938	Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and @DISEASE$ and multiple @PHENOTYPICFEATURE$.	false
+38f295dcde3c57c8465765a7dec0287862c623cf	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @PHENOTYPICFEATURE$, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis.	has_symptom
+8b20b254c7af01bb28b010ede267d9af7ef75d80	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, @PHENOTYPICFEATURE$, growth delay, and kyphoscoliosis.	false
+dcbd2cb0f9e7ee794c16080baa3da051cb0523ab	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @DISEASE$, normal extraocular movements, cleft palate, @PHENOTYPICFEATURE$, and kyphoscoliosis.	false
+c415062de6935fd83ed43f72a72765a1a99aeb06	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of @DISEASE$ (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, @PHENOTYPICFEATURE$, and kyphoscoliosis.	false
+3a5585cb96d5d79660642da8bede36208f551c72	The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, @DISEASE$, normal extraocular movements, @PHENOTYPICFEATURE$, growth delay, and kyphoscoliosis.	false
+5c43738e73c1d519e9a45811f618be3b5815feb5	@DISEASE$ includes mental retardation, adducted thumbs, shuffling gait and aphasia or @PHENOTYPICFEATURE$.	has_symptom
+a30bc620d8cf2fbf6fce777aba4da0da825d4f15	MASA syndrome includes @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait and aphasia or @DISEASE$.	false
+f7cdcccddcab0bcf41604af6492c1d3f96bac7cc	@DISEASE$ includes @PHENOTYPICFEATURE$, adducted thumbs, shuffling gait and aphasia or speech delay.	false
+2d041b2fdada52bf4ec0cc39e28c6bf791213163	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$, proximal symphalangism, enamel hypoplasia, and loose skin.	has_symptom
+bf4577f4be4531892db578c53ab05403a24f3fcd	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, @PHENOTYPICFEATURE$, mental retardation, proximal symphalangism, @DISEASE$, and loose skin.	false
+0eef40f4b9eadbc5fdd5c67bd037cbc8a865ffbc	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-@DISEASE$ (MIM 151050), which comprises craniodiaphyseal dysplasia, @PHENOTYPICFEATURE$, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin.	false
+7c1d6f1ced6a389ccc21115fe913378d2d5931b8	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, proximal symphalangism, enamel hypoplasia, and loose skin.	false
+86e411317017d0e28d957c9cc23c042813e57599	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin.	false
+3e6200024d9a7bbf20e1bfc411bfa807cbaddbc2	A 20-year-old man with craniofacial anomalies of @DISEASE$ (CDD), facial paralysis, @PHENOTYPICFEATURE$, and situs inversus totalis is described.	has_symptom
+64f95fc387c210a77683d56b13951d816208da28	@PHENOTYPICFEATURE$ (MPNSTs) are soft tissue sarcomas that arise from peripheral nerve fibers and primarily occur in the setting of @DISEASE$ (NF1).	has_symptom
+3ca24701c70b1244d60ca83704b051e329bbf746	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, @PHENOTYPICFEATURE$, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (@DISEASE$).	has_symptom
+0b90e1aa30d18ab3dea0e75abe5233ac4abbf0f8	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, @PHENOTYPICFEATURE$, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (@DISEASE$).	false
+d809a48cc4bb84627b17e3f71fb478fd05a01d21	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, @PHENOTYPICFEATURE$, low-set ears, downturning corners of the mouth, long philtrum, high-arched @DISEASE$, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome).	false
+16d054f276148e2813ba6fda39432669e271a991	Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, @DISEASE$, @PHENOTYPICFEATURE$, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural webbings, and aplasia of the labia majora were indicative of MPS (Escobar syndrome).	false
+56878ec00baa67fa80c4ccfb93eb033e6fd9ec76	Two patients presented with neonatal @PHENOTYPICFEATURE$ and acholic stools as first manifestations of @DISEASE$.	has_symptom
+178523349608db5d4c27024583d22ce28f9d3e83	@DISEASE$ results in a high incidence of children born who are @PHENOTYPICFEATURE$.	has_symptom
+9b8801e28b60dfd2279547073e9c2ddddaa62992	Untreated @DISEASE$ can lead to @PHENOTYPICFEATURE$ in utero.	has_symptom
+95fd3e9429d62a85fca0b68ef1c31872c0fb42e7	The @DISEASE$ may have been a cause of the @PHENOTYPICFEATURE$, retarded intrauterine growth and different types of malformations.	has_symptom
+f23e55de24a28b175929ba39ea2f45b0e052ad8c	@DISEASE$ results in a high incidence of children born @PHENOTYPICFEATURE$.	has_symptom
+3331cebb329b6d907dcecd6179744f091006b348	[Embryopathy due to @DISEASE$: a cause of @PHENOTYPICFEATURE$].	has_symptom
+f67b1b459fe7102c182d085ddc7b383964d96db3	These changes may contribute to the congenital heart disease and @PHENOTYPICFEATURE$ of @DISEASE$.	has_symptom
+02f60573468a694fd664a8be5b3694c194b048b0	Untreated @DISEASE$ or hyperphenylalaninemia may result in nonphenylketonuric offspring with low birth weight and neonatal sequelae, especially microcephaly and @PHENOTYPICFEATURE$.	has_symptom
+7f4b91c87fb06250d8a61105897e4ef3d97773c8	Untreated @DISEASE$ or hyperphenylalaninemia may result in nonphenylketonuric offspring with low birth weight and neonatal sequelae, especially @PHENOTYPICFEATURE$ and intellectual disability.	false
+e9e73fb489f58894d6623723dc71326f37af35e9	Untreated maternal PKU or hyperphenylalaninemia may result in nonphenylketonuric offspring with low birth weight and neonatal sequelae, especially @PHENOTYPICFEATURE$ and @DISEASE$.	false
+64d2d14da5c80b0baa062e44413e89fb95a2e4d5	@DISEASE$ (PKU) represents a high risk for birth defects, including @PHENOTYPICFEATURE$, in offspring.	has_symptom
+4b6e86c39fcadccacdb6122c9cdc313ebbff70e8	In contrast, a dysgenic effect from @DISEASE$ will cause a rebound in frequency of @PHENOTYPICFEATURE$ within this decade.	has_symptom
+3a2011f3526533fbbdad0ea6746dcc1b928c20c9	An exceptional Albanian family with seven children presenting with dysmorphic features and @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+9cec407912b237c26b841766cf3e56f124115a9e	Twenty six patients had arthritis associated with a known rheumatic disease, 25 had non-specific @PHENOTYPICFEATURE$/myalgia, 20 had @DISEASE$, and five had septic arthritis.	has_symptom
+08509879e7eb98638c5f41c40177b31f85524563	Two had @PHENOTYPICFEATURE$, one had congenital hip subluxation, and the youngest had @DISEASE$.	has_symptom
+2ae0b07c4d85a07e78dae3a46c50684e5bcd2ab5	Cases of congenital dislocation of the knee (CDK) not associated with @PHENOTYPICFEATURE$, @DISEASE$, and Larsen's syndrome can be treated conservatively.	has_symptom
+71c93cde1240ae2704551aeb1c6082b62ecc5753	When 51 patients with @DISEASE$ followed an average of 12 years were reviewed, @PHENOTYPICFEATURE$ was the most common foot and ankle deformity.	has_symptom
+f700687b8ec79bdb0b636e235a06f98d15a27114	Surgical treatment of @PHENOTYPICFEATURE$ deformity in @DISEASE$.	has_symptom
+901405afc7ed7183148a6c156731b4cd78aa435a	Exemplarities of the teratologic types of @PHENOTYPICFEATURE$ are those associated with @DISEASE$.	has_symptom
+49a082041760ffa8301bc1eb7ad9bce304e2d396	Experimental @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+7466bef6b0c4fe37ac5e30f873f763a631a185e6	We believe that it is advisable to wait 1 month for spontaneous reduction of CDK in cases not associated with @PHENOTYPICFEATURE$, @DISEASE$, and Larsen's syndrome.	has_symptom
+6a7ef571278cd327be7503163753a3776c5415fc	An unusually high incidence of talocalcaneal coalition is reported in a group of patients with @DISEASE$ with resistant @PHENOTYPICFEATURE$ deformities.	has_symptom
+52aa51083c2ef85cbf496d4f8e0d18cfb7378643	Talectomy has been used most commonly in pediatric orthopedics with some degree of success in severe @PHENOTYPICFEATURE$ deformity, @DISEASE$, myelomeningocele, tuberculosis, and tumors.	has_symptom
+afe3284c35d05635aaa18c9407848465b19959a0	Talectomy has been used most commonly in pediatric orthopedics with some degree of success in severe clubfoot deformity, @DISEASE$, myelomeningocele, tuberculosis, and @PHENOTYPICFEATURE$.	false
+00297f08d2551e2feb432257d5a8ac08745ff813	Talectomy has been used most commonly in pediatric orthopedics with some degree of success in severe @DISEASE$ deformity, arthrogryposis multiplex congenita, myelomeningocele, tuberculosis, and @PHENOTYPICFEATURE$.	false
+0e3157070ab6848a16d9b4b1a44961a028b6ae7a	We reviewed 24 feet in 15 patients who had undergone talectomy for recurrent equinovarus deformity; 21 were associated with @DISEASE$, two with myelomeningocele and one with idiopathic congenital @PHENOTYPICFEATURE$.	has_symptom
+afb2f9b38e89619a24bd26a6e6ec2a2b39d678d5	In the case history we found a previously diagnosed @PHENOTYPICFEATURE$, which is described in the literature as the so-called @DISEASE$.	has_symptom
+274d9ab82bde81d691881506db37854819083339	Carbamoyl phosphate synthetase 1 (CPS1) deficiency (@DISEASE$) is an inborn error of the urea cycle having autosomal (2q34) recessive inheritance that can cause hyperammonemia and neonatal death or @PHENOTYPICFEATURE$.	has_symptom
+4d4e8a664a07729d7ba9c2d709f94be8e38ff354	To assess and compare the oral hygiene and periodontal status among children with @DISEASE$ having upper limb @PHENOTYPICFEATURE$, lower limb disability and both upper and lower disability at Udaipur city, Rajasthan, India.	has_symptom
+5d43dbe8b7a43a401fae64847a89e7cdd508efdc	To assess and compare the oral hygiene and periodontal status among children with @DISEASE$ having upper limb disability, lower limb @PHENOTYPICFEATURE$ and both upper and lower disability at Udaipur city, Rajasthan, India.	has_symptom
+f32981e44ea7a5ac65f30705f9a8ab64cbf8bbf9	Bilateral pulmonary artery aneurysm associated with bilateral pulmonary @PHENOTYPICFEATURE$, superior vena caval thrombosis, and @DISEASE$--a case report.	has_symptom
+196d81724ef779b133b553de35edcccf8bd3a6ef	The patients presented with typical features of @DISEASE$, such as severe mental retardation, speech impairment, hyperactivity, @PHENOTYPICFEATURE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	has_symptom
+2cb7273a808d0a3ac579910267282cf2eba7696b	The patients presented with typical features of @DISEASE$, such as @PHENOTYPICFEATURE$, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+7eac0c3070aab18395d902293ed775c2bf4f5343	The patients presented with typical features of Cabezas syndrome, such as @PHENOTYPICFEATURE$, speech impairment, hyperactivity, @DISEASE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+37240c34f459020d4c4d818dd3ee9eb730b8c857	The patients presented with typical features of @DISEASE$, such as severe mental retardation, @PHENOTYPICFEATURE$, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+d96fcd91eb07efcaa720de722b676c22538308d8	The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, @PHENOTYPICFEATURE$, hyperactivity, @DISEASE$, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism.	false
+0f16359155935f66ad0b2a6c67d45f51779dead4	We report the phenotype of @DISEASE$ (SCA36), which is a novel type of dominant @PHENOTYPICFEATURE$ nicknamed as "Asidan," caused by the expansion of a hexanucleotide GGCCTG repeat in intron 1 of the nucleolar protein 56 (NOP56) gene.	has_symptom
+6aae50ea4d28f56f09c1168c5eb4c9c8e2ae0481	SCA36 was first described in Japan (@DISEASE$ River @PHENOTYPICFEATURE$) and in Galicia(Costa da Morte ataxia).	has_symptom
+9636e6c8f78036a6fa627204b761051af51125df	SCA36 was first described in Japan (@DISEASE$ River ataxia) and in Galicia(Costa da Morte @PHENOTYPICFEATURE$).	has_symptom
+2e3e254bdf4785d450aaffc7c2255d92e0076a06	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, @PHENOTYPICFEATURE$, hypotonia, epilepsy, @DISEASE$, pontocerebellar abnormalities, failure to thrive, liver dysfunction, lower extremity edema and dysmorphic features.	has_symptom
+6327a10109a693483ecfe85216168c125c1aed70	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, microcephaly, hypotonia, epilepsy, @DISEASE$, pontocerebellar abnormalities, failure to thrive, liver dysfunction, lower extremity @PHENOTYPICFEATURE$ and dysmorphic features.	false
+321cae1dd4f10c48e432456c6bb41a11c9f19291	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, @DISEASE$, hypotonia, epilepsy, cortical vision impairment, pontocerebellar abnormalities, failure to thrive, liver dysfunction, lower extremity @PHENOTYPICFEATURE$ and dysmorphic features.	false
+21169cd4059eb758f6809da8cdb2f7d8e50b6acf	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, microcephaly, hypotonia, epilepsy, @DISEASE$, pontocerebellar abnormalities, @PHENOTYPICFEATURE$, liver dysfunction, lower extremity edema and dysmorphic features.	false
+14571d991ded2f4b40463f4066c35c61758a18eb	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, @DISEASE$, hypotonia, epilepsy, cortical vision impairment, pontocerebellar abnormalities, @PHENOTYPICFEATURE$, liver dysfunction, lower extremity edema and dysmorphic features.	false
+474a913e0a7bbf82997d1a489dac9800a52c4ed0	Using whole-exome sequencing, we have identified in ten families 14 individuals with @PHENOTYPICFEATURE$, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	has_symptom
+b2ec38f7571d49c459d8a49d286f2e7b0fd1dec7	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, @PHENOTYPICFEATURE$, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+2eab0258ceba0c2fa1aa9fe57de3bc096cccd72e	Using whole-exome sequencing, we have identified in ten families 14 individuals with @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+9f8ebc1f354be420098b86ec7d1aafe00887a5c7	Using whole-exome sequencing, we have identified in ten families 14 individuals with @DISEASE$, developmental delay, intellectual disability, hypotonia, @PHENOTYPICFEATURE$, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+1400da22bd95b2fbe066ff5bc822320481e6498b	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, @PHENOTYPICFEATURE$, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+52cec8e80a08eae29af736059f7492ccf2a79b75	Using whole-exome sequencing, we have identified in ten families 14 individuals with @DISEASE$, developmental delay, intellectual disability, hypotonia, spasticity, @PHENOTYPICFEATURE$, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+5bb70e7bb59b08621622ef59d17751e0b1e6067c	Using whole-exome sequencing, we have identified in ten families 14 individuals with @DISEASE$, developmental delay, intellectual disability, hypotonia, spasticity, seizures, @PHENOTYPICFEATURE$, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+4c8909fc3c6c1be1cab9196f36ba71231b5f1d8d	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, @PHENOTYPICFEATURE$, hypotonia, spasticity, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+afe31128ba70d36409461288fe057f2537e8344a	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+fd8cd09e53eebdeebb3b98bc3b7e86597f8cc8eb	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, seizures, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+41edf36618dc31a41e031ea42bb82cc3fae0f7c9	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, @PHENOTYPICFEATURE$, @DISEASE$ and microcephaly.	false
+a6cc64383132481b8375d16b168ea0d9e9f6d8f7	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, @PHENOTYPICFEATURE$, seizures, cortical visual impairment and @DISEASE$.	false
+eb52e4a66b409601a4da05d457c76f8bf5e4ea3e	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, sensorineural hearing loss, @PHENOTYPICFEATURE$, cortical visual impairment and @DISEASE$.	false
+74a9a908c563ce71c917dd81493fde15ef30ca1b	Variants in the SPATA5 gene were recently described in a cohort of patients with global developmental delay, @PHENOTYPICFEATURE$, seizures, @DISEASE$ and microcephaly.	false
+c82c79f4bdce315f7082a81e98ddb1d9c7d50ba0	@DISEASE$ (HD) is a genetic, neurodegenerative disorder characterized by chorea, behavioral co-morbidities, cognitive deficits, and @PHENOTYPICFEATURE$.	has_symptom
+c1ed4582631aeff23cd13f5879333a73659bd942	Huntington disease (HD) is a genetic, neurodegenerative disorder characterized by chorea, behavioral co-morbidities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+baf8c90b80ec5dadb5011f03c379fd12839c5742	@DISEASE$ (HD) is a genetic, neurodegenerative disorder characterized by chorea, behavioral co-morbidities, @PHENOTYPICFEATURE$, and eye movement abnormalities.	false
+8ec37b025c393c2f1591c3099048d3fdbf1f4dd0	To determine whether asymptomatic individuals at very high genetic risk for @DISEASE$ (HD) have demonstrable cognitive or @PHENOTYPICFEATURE$.	has_symptom
+ccaa56d1ad52c659b7627dacc99e3df5296cd8d8	The effects of antipsychotic medication on saccadic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+ec20605bef0b39ec7b34173e2ca56f5ece74c1ba	Premanifest @DISEASE$: Examination of @PHENOTYPICFEATURE$ in clinical practice.	has_symptom
+5d503a650a84799915a311fd68185cace53df33b	@PHENOTYPICFEATURE$, especially slow saccades, have long been recognized in @DISEASE$ (HD).	has_symptom
+25731d77ff6e1998c2f56397153dbab47feb7ce5	The aim of this study is to investigate which oculomotor items of the Unified Huntington's Disease Rating Scale (UHDRS) are affected in premanifest individuals compared to healthy controls, and if CAG repeat length and age are correlated with @PHENOTYPICFEATURE$ in premanifest @DISEASE$ gene carriers.	has_symptom
+e047d9f6add3139a67730c9aa6acb975a75394a1	The 19-month-old boy had characteristic features of @DISEASE$, such as unilateral orbital cyst, skin tags and skin hypoplasia, hypoplastic left cerebellar hemisphere, Dandy-Walker variant anomaly, @PHENOTYPICFEATURE$, and left cerebral hemispheric diffuse migration anomaly.	has_symptom
+0aa1dcdb19722efd98624ffdb9b49b1e5273333f	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @PHENOTYPICFEATURE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	has_symptom
+5cf60d166db5f58b4935d435a3eea7813c3e3402	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+81d302a9c7ccf66561b0d8ec1a4df3c94155b104	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+51b745adecdac6a559606e35ef7699d885cdef99	Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @DISEASE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+c83010e0af3831960a614ecfeaea293b4037a49e	Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @DISEASE$, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+7123e02e5a2a72f611270b871983ce01dced8119	Clinical features of @DISEASE$ include craniofacial anomalies (@PHENOTYPICFEATURE$, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+92bcf68ad0e4952ee9ab1a13a522afe81ccc3272	Clinical features of 3C syndrome include craniofacial anomalies (@PHENOTYPICFEATURE$, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or @DISEASE$, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+5d968382b326e04ae1006cea9b065211fd59fd86	Of the nine craniofacial anomalies commonly reported as a part of the @DISEASE$, we consider two i.e., @PHENOTYPICFEATURE$ and ocular coloboma, to be readily and objectively ascertainable.	has_symptom
+8a11217884f4a3e5c34bb25f1263ed974e34b805	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @PHENOTYPICFEATURE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	has_symptom
+a80c5f9f29e7843509ad291d019fb95c5950ba35	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @DISEASE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+fd7c9c58f301103b0a955c081016129b0c22a29d	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and @DISEASE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+1d1993c4ff2741f09014bb3aa21d35a959646be5	Thus, the criteria we propose to establish the diagnosis of the Ritscher-Schinzel syndrome in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and @DISEASE$ or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+cca59274844fbb1671e420bbbba72ce9b5bf708a	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+f809720b0164ae9cf6e02a4f35cf2005f27f9c18	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+7add69157a5a99bfdf650290d7cb884730f7a933	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, cerebellar malformation, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+bc8177e7423768e4382b55047627ab60adb80757	Four previously reported cases of @DISEASE$ with postpartum @PHENOTYPICFEATURE$ are reviewed.	has_symptom
+a375d8a3a5c2abc80b8ea2e5b942c89f7a996159	Reversal of severe @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+01302d0fb6f24e088a4cb5132415c56e626d399d	@DISEASE$ and antineutrophil cytoplasmic autoantibody-associated @PHENOTYPICFEATURE$.	has_symptom
+65866b30f6949cc9bf711ffeded675148d88d21a	@DISEASE$ crisis: progressive @PHENOTYPICFEATURE$ despite blood-pressure control.	has_symptom
+178e365b6a383f7c266797331b2eedca35929391	@PHENOTYPICFEATURE$ in patients with @DISEASE$ is usually considered irreversible.	has_symptom
+46a8c14cc3a963f948c02c774f0904ba194b1efb	Hypertension and @PHENOTYPICFEATURE$ (@DISEASE$ renal crisis) in progressive systemic sclerosis.	has_symptom
+cc1e22b59593b19fe0b6fc7bd213c87ad0512dd7	Hypertension and @PHENOTYPICFEATURE$ (scleroderma renal crisis) in @DISEASE$.	has_symptom
+75a0d4a8287e84e0afc1de35ac9940cfb5fe2feb	@PHENOTYPICFEATURE$ is a common cause of death in patients with progressive systemic sclerosis (@DISEASE$).	has_symptom
+8ca5e201b7daee3799458c17eed185c57d7b69a4	@PHENOTYPICFEATURE$ is a common cause of death in patients with @DISEASE$ (PSS).	has_symptom
+65fd1c78ef5bba5c05bc9897e819373465d2e412	Two patients with progressive systemic sclerosis (@DISEASE$) developed @PHENOTYPICFEATURE$ which required thrice weekly hemodialysis.	has_symptom
+178473f927a5c5f0529e5e0965f70d69c3b71a61	Two patients with @DISEASE$ (scleroderma) developed @PHENOTYPICFEATURE$ which required thrice weekly hemodialysis.	has_symptom
+9b0dfdf2aec1abfe33be9752e1404fb3472fba67	Normotensive @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f0811ecf03808858010780861a862331fa310f3f	Antineutrophil cytoplasmic autoantibodies in @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+30cd6b6aca6e9c3a1c3806b70a143e5ccae40138	The clinical manifestations before an @DISEASE$ are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and @PHENOTYPICFEATURE$, and salt craving.	has_symptom
+2c443f6695b03f9c318dc7201763c2c7772c9e33	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder that is characterised by cleft lip, cleft palate, lower lip pits, and @PHENOTYPICFEATURE$.	has_symptom
+51d8a00aafd47edc1f34438b7b73d4471d98ded2	@DISEASE$ (VWS) is an autosomal dominant disorder that is characterised by cleft lip, cleft palate, lower lip pits, and @PHENOTYPICFEATURE$.	has_symptom
+10e961d78e8a5f02f1e47a6860b95fdd10b2b068	Van der Woude syndrome (VWS) is an autosomal dominant disorder that is characterised by @DISEASE$, @PHENOTYPICFEATURE$, lower lip pits, and hypodontia.	false
+be17327f49e0a0a031f84ff6f5a092dfa8d7eb7f	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder that is characterised by cleft lip, @PHENOTYPICFEATURE$, lower lip pits, and hypodontia.	false
+7836b78cea5c04e1b5156d129c54b11471936004	Van der Woude syndrome (VWS) is an autosomal dominant disorder that is characterised by cleft lip, @PHENOTYPICFEATURE$, lower lip pits, and @DISEASE$.	false
+9eddf34bfef170368e40ace0c6dd7da6baaf2212	@DISEASE$ (VWS) is an autosomal dominant disorder that is characterised by cleft lip, @PHENOTYPICFEATURE$, lower lip pits, and hypodontia.	false
+c0f8715630e3399144e4d6041aae2675bc4f1838	@DISEASE$ (VWS) is an autosomal dominant disorder of syndromic clefts clinically characterized by lower lip pits, cleft lip and/or palate, @PHENOTYPICFEATURE$.	has_symptom
+4e6f037c01e0fc4593bd1dd0320ac2423d13fae4	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder of syndromic clefts clinically characterized by lower lip pits, cleft lip and/or palate, @PHENOTYPICFEATURE$.	has_symptom
+28bacb30d9f01a0260881bc622c7625536085f40	Van der Woude syndrome (@DISEASE$) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	has_symptom
+50b396fd90aeb8d21d26ce7f6d4ac426e6c669ac	@DISEASE$ (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, @PHENOTYPICFEATURE$ and cleft lip and/or cleft palate.	has_symptom
+74a047eadf217937b282ab16e23804fe8ea9b45a	Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, @DISEASE$ and cleft lip and/or @PHENOTYPICFEATURE$.	false
+3b8b564c3ea2941f03d001cfb833b3936be3cb72	@DISEASE$ (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/or @PHENOTYPICFEATURE$.	false
+4ae34d75c979932db4a61d4e9ac311f83e8aeb4c	Van der Woude syndrome (@DISEASE$) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/or @PHENOTYPICFEATURE$.	false
+428603a3d18d09c8a70fdb7725c0ff89e8000fa0	Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+e5596127fe4e9beeb84cbf5288a504ca73723250	This paper reports a rare case of @DISEASE$ in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, @PHENOTYPICFEATURE$, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.	has_symptom
+455e310123425abd9d903055e793fef7492db7d7	@DISEASE$ (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and @PHENOTYPICFEATURE$.	has_symptom
+d4c67e8b8728d651949072237828f8f8534ad784	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and @PHENOTYPICFEATURE$.	has_symptom
+c1b9e4e8b1016f2141a63eccd8e9f111187c1ca5	Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or @DISEASE$ (CL+/-P), @PHENOTYPICFEATURE$, bifid uvula and hypodontia.	false
+5d9ade39c4faadda9435e19c56b34f78e6cc71c7	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), @PHENOTYPICFEATURE$, bifid uvula and hypodontia.	false
+2d09bbc1afe18a80ecfe75a340d59158a3f637bf	@DISEASE$ (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), @PHENOTYPICFEATURE$, bifid uvula and hypodontia.	false
+950ca58e28cb178d8e5cc7eeaa5c66d1ac69ffb0	Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), @PHENOTYPICFEATURE$, bifid uvula and @DISEASE$.	false
+5cad34925b5eb1f7749e9f17b8d07c604797b6cf	Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), @PHENOTYPICFEATURE$, @DISEASE$ and hypodontia.	false
+5eab6f65c07a2e24dd85b57de1dc4b2a79d0f75d	In addition to the other specific clinical signs, she showed @PHENOTYPICFEATURE$ and lower lip pits, as typically seen in the @DISEASE$.	has_symptom
+1eb6b036c26c8022e499ec071af560fd70b6ee90	@DISEASE$ (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, @PHENOTYPICFEATURE$, or paramedian lower-lip pits.	has_symptom
+f58fd50d709a9b3d412d9769810db78ec9371097	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, @PHENOTYPICFEATURE$, or paramedian lower-lip pits.	has_symptom
+44ae8eb334018a9b23e46ae9c906dca0ba8cdf55	@DISEASE$ (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, @PHENOTYPICFEATURE$, hypodontia, or paramedian lower-lip pits.	false
+9e11bb8131692d99e794bba97bb19004659abe91	Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: @DISEASE$, @PHENOTYPICFEATURE$, hypodontia, or paramedian lower-lip pits.	false
+233ab247ed4adef6f5503385de97d38c9ed7e75a	Van der Woude syndrome (@DISEASE$) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, @PHENOTYPICFEATURE$, hypodontia, or paramedian lower-lip pits.	false
+01bab30fed6556c5cecdd812144204ef713f7b6d	Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, @PHENOTYPICFEATURE$, @DISEASE$, or paramedian lower-lip pits.	false
+b7aa2abc207ff2dbb97b18d6258b54cf7b321be9	@DISEASE$ (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, @PHENOTYPICFEATURE$, and cleft lip and/or cleft palate.	has_symptom
+2b8c7377bf9770d85ebb61858e7456cda57da35f	Van der Woude syndrome (@DISEASE$, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, @PHENOTYPICFEATURE$, and cleft lip and/or cleft palate.	has_symptom
+8d408152570d74a0c0700519bf5eb477d4530f17	Van der Woude syndrome (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia, and @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+3903ddd334fc55cc3b509c19fe1f955ac07a2a59	Van der Woude syndrome (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, @DISEASE$, and cleft lip and/or @PHENOTYPICFEATURE$.	false
+bc0659d92788e4b5126bfb4715b7514e84916eac	Van der Woude syndrome (@DISEASE$, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia, and cleft lip and/or @PHENOTYPICFEATURE$.	false
+46d1cba12ccc8a6403e3f442d4ddc965539596f3	@DISEASE$ (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia, and cleft lip and/or @PHENOTYPICFEATURE$.	false
+556210224d20d47615ce523f1dfd4a7977c1bd24	Orofacial manifestations of @DISEASE$ (VWS) include cleft lip or palate, lower lip pits, @PHENOTYPICFEATURE$, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia.	has_symptom
+e79e8eb3ded0c08d79fb5ef03aa7f22c8cf24ca4	Orofacial manifestations of Van der Woude syndrome (@DISEASE$) include cleft lip or palate, lower lip pits, @PHENOTYPICFEATURE$, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia.	has_symptom
+e86aecc83d1ea1e674b3a3a792cfb042d80efc7b	Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, @DISEASE$, and presence of @PHENOTYPICFEATURE$ Hoffmann and Babinski signs.	false
+453049568012d0116b18759504c460c92b6825f7	Five of these co-segregated with cataracts and @PHENOTYPICFEATURE$, whereas the variant p.(Gly94Arg) was identified in an individual with @DISEASE$, sclerocornea, microphthalmia and coloboma.	has_symptom
+0a50249147bf175a0024ed9488b88749feb6eca0	Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with @DISEASE$, sclerocornea, @PHENOTYPICFEATURE$ and coloboma.	has_symptom
+e35ada32da7c40cfae98c213014a4b277fd7fd03	Five of these co-segregated with @PHENOTYPICFEATURE$ and @DISEASE$, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma.	false
+5c4c5e45495c656c40d9d7818cbefc78d1c8e70a	Five of these co-segregated with @PHENOTYPICFEATURE$ and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with @DISEASE$, sclerocornea, microphthalmia and coloboma.	false
+22be5462cba55d6be74eaf46aba8928053e8da4e	Five of these co-segregated with @PHENOTYPICFEATURE$ and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and @DISEASE$.	false
+988b35ee6bacd335b2cd1d483fae67a956644fd9	Five of these co-segregated with @PHENOTYPICFEATURE$ and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, @DISEASE$ and coloboma.	false
+103ab4e78941ea0801b3b77d2c06e15694af9a8b	@DISEASE$ (HI) is a rare neuroectodermal disorder often associated with @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+a847e0ec85869f8ced5df7af907690b9524a9c9e	Audiological assessment of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+6580150d9a4ea1522e88dcee38ba7a23df1fd669	This article highlights 3 such success stories describing the use of human milk in cases of @DISEASE$, very-low-birth weight, and @PHENOTYPICFEATURE$.	has_symptom
+c72699452246cb1ec2c5e625b4b4dd05bdfaf720	In our series, clinical presentation at diagnosis were: recurrent respiratory infections in selective IgA deficiency and common variable immunodeficiency (CVID) patients, @PHENOTYPICFEATURE$ and opportunistic infections (mainly viral infections) in patients with severe combined immunodeficiency (SCID), skin abscesses (Staphylococcus aureus, Serratia spp.) and complicated pneumonia (Aspergillus spp., Rhodococcus equi) in chronic granulomatous disease, congenital heart disease and consistent phenotype in @DISEASE$, skin abscesses and ecthyma gangrenosum in severe congenital neutropenia and opportunistic infections and sepsis (Pseudomonas aeruginosa) in children with X-linked agammaglobulinaemia (XLA).	has_symptom
+d77d811c24f7194a66f56ae45fe5267f072d1de7	@DISEASE$ (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, @PHENOTYPICFEATURE$, coarse facies, mental retardation, and characteristic radiological features.	has_symptom
+c338f86de942480b9ba4a3ff2d0a465c52229c4e	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, coarse facies, mental retardation, and characteristic radiological features.	false
+bbcb57505b3756453a3e09159116f321c1be3367	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, @DISEASE$, coarse facies, @PHENOTYPICFEATURE$, and characteristic radiological features.	false
+3fbf8f8c25a3cc94e9b1d24b463711cef42f6087	@DISEASE$ (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies, @PHENOTYPICFEATURE$, and characteristic radiological features.	false
+0d1753d810bf11de0caf091d30a3ba258d70f7ce	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by @PHENOTYPICFEATURE$, scoliosis, @DISEASE$, coarse facies, mental retardation, and characteristic radiological features.	false
+23aa49c67aeb5b74602ab533127817abd2386221	Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, @DISEASE$, microcephaly, coarse facies, @PHENOTYPICFEATURE$, and characteristic radiological features.	false
+a480451fdcd0f80f3c013a6f32532d4aa42cc142	@DISEASE$ (DMC) is an autosomal recessive condition characterised by @PHENOTYPICFEATURE$, scoliosis, microcephaly, coarse facies, mental retardation, and characteristic radiological features.	false
+7165ccef331cd1ef55bc73479252783d15a8beb7	The @DISEASE$ is inherited in an autosomal recessive mode and is clinically characterized by mental retardation, small stature mainly due to a short vertebral column with thoracal kyphosis, protruding sternum, reduced articular mobility, and in most cases also by @PHENOTYPICFEATURE$.	has_symptom
+1ae3b96b593c6a0838575988f5dd7ae43efdf866	The Dyggve-Melchior-Clausen syndrome is inherited in an autosomal recessive mode and is clinically characterized by @PHENOTYPICFEATURE$, small stature mainly due to a short vertebral column with thoracal kyphosis, protruding sternum, reduced articular mobility, and in most cases also by @DISEASE$.	false
+1a1e63384e67e7fa97db19fc1b4cec0100973595	The @DISEASE$ is inherited in an autosomal recessive mode and is clinically characterized by @PHENOTYPICFEATURE$, small stature mainly due to a short vertebral column with thoracal kyphosis, protruding sternum, reduced articular mobility, and in most cases also by microcephaly.	false
+4a3a41502dbd4fe1bbd03aca471ec784a2121dc9	Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaphyseal dysplasia with skeletal features identical to those of @DISEASE$ (DMC) but with normal intelligence and no @PHENOTYPICFEATURE$.	has_symptom
+9f3eec8627dfe3c47095d54eacf5a65c5046e712	The @DISEASE$ is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, @PHENOTYPICFEATURE$, coarse face, and variable mental retardation.	has_symptom
+c3c7ad143c01657fb9d3e5b43cd727dfa64fe053	The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, @DISEASE$, coarse face, and variable @PHENOTYPICFEATURE$.	false
+2806361dbc70da9e949cbd0c9a06aeeb55f43b0d	The @DISEASE$ is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable @PHENOTYPICFEATURE$.	false
+e14e08560ae81d49003d9c736434f4a2ef7af454	The Dyggve-Melchior-Clausen syndrome is a progressive @PHENOTYPICFEATURE$ characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, @DISEASE$, coarse face, and variable mental retardation.	false
+c90f70f74b88ad8bef513ba6a0eb856619e4e621	The @DISEASE$ is a progressive @PHENOTYPICFEATURE$ characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation.	false
+a6bcfa6380f4f85f61bb729ab1d8cef16453ac5d	@DISEASE$ is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, @PHENOTYPICFEATURE$, and limb deformities), facial dysmorphism, and intellectual disability.	has_symptom
+8591ca7619c9e3c102f1e5bd177d8bc9e0189a17	@DISEASE$ is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), @PHENOTYPICFEATURE$, and intellectual disability.	false
+f4345d38f5d1fab9d32acbd507722b48e873a962	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-@DISEASE$ associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability.	false
+644d768a0adddcfdce900db74f66c5a057c99a7b	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-@DISEASE$ associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+1300fbc48cfd85de3a2e72d4a20e8cc2001fcdbd	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), @PHENOTYPICFEATURE$, and intellectual disability.	false
+20305dca7ce2c6d23bd9bd6742cf36a7006e0caf	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability.	false
+2fa2fceb7964d17af6530aad79f3242238e0b6f9	@DISEASE$ is a progressive spondylo-epi-metaphyseal dysplasia associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability.	false
+99d85cc0d2337dde918cbda9ce6af48f9e64fbe0	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, @DISEASE$, microcephaly, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+322d9c944ba93de8e4c3e4b6e05c44ce521aae3e	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+61ecf195ee91527f1a4e22b6c06ea67dd75fa295	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, @DISEASE$, and limb deformities), @PHENOTYPICFEATURE$, and intellectual disability.	false
+a4cb1310f43b7c850746d60c9134d05c865162c2	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, @DISEASE$, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+9a6608aa9e8ec62f6eb57ff10d892722f0e0c4c6	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, @DISEASE$, microcephaly, and limb deformities), @PHENOTYPICFEATURE$, and intellectual disability.	false
+a45690e6ff62c32393ef4200a3a0c80dbd24ac1e	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-@DISEASE$ associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), @PHENOTYPICFEATURE$, and intellectual disability.	false
+c4f17583d82f5d0c41910062aac83ef0f5a5eb5a	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, @DISEASE$, and limb deformities), facial dysmorphism, and intellectual disability.	false
+642de10cf3c689dcf3e02f5186bd0e4b0c706d95	@DISEASE$ is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+5c1e924b921193a4c689a410301baae6614ea33b	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, @DISEASE$, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability.	false
+d5cad214b5a44d593e46781f7c326a9e9315a997	@DISEASE$ (FHL) is a rapidly fatal illness, usually encountered in infancy, characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, pancytopenia, and central nervous system involvement.	has_symptom
+6e268e505e8f448539cdfc8b62704737b4e7942d	The diagnosis of @DISEASE$ should be considered in any infant with @PHENOTYPICFEATURE$, splenomegaly and cytopenia of at least two cell lines.	has_symptom
+97ec6b5b1f5904819ad74ba4484e65ba4f42690c	@DISEASE$ (FHL) is a disorder of immune homeostasis characterized by @PHENOTYPICFEATURE$, cytopenias, hepatosplenomegaly, and coagulopathy.	has_symptom
+7e5d73756c6fe52415ee8530c690ef456bcea32a	@DISEASE$ (FHL) is a rare autosomal recessive lethal condition characterized by @PHENOTYPICFEATURE$, cytopenia, hepatosplenomegaly and hemophagocytosis.	has_symptom
+7e5d73756c6fe52415ee8530c690ef456bcea32a	@DISEASE$ (FHL) is a rare autosomal recessive lethal condition characterized by @PHENOTYPICFEATURE$, cytopenia, hepatosplenomegaly and hemophagocytosis.	has_symptom
+a0750f4db12b8e1a5e46012cfc3ac633f7855d12	@DISEASE$ (HLH) is an autosomal recessive disorder of immune regulation characterized by @PHENOTYPICFEATURE$, splenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia.	has_symptom
+d1d8f2ec3fdd5aa0caea3a862a9bc758c0feca13	The etiology of @DISEASE$ (FHL), which is characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, pancytopenia, and coagulopathy, remains unknown.	has_symptom
+8e18d8d2321dff0b654e4801d73c4c5840fbb851	@DISEASE$ (FHL) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome responsible for @PHENOTYPICFEATURE$, hepatosplenomegaly, cytopenia, and coagulopathy.	has_symptom
+3d59e5d1a4f252e5c856f4c590168c84490e1310	@DISEASE$ (FHLH) is an autosomal recessively inherited multisystem disease characterized by @PHENOTYPICFEATURE$, rash, splenomegaly, cytopenias, and variable central nervous system (CNS) manifestations.	has_symptom
+934cdb5efd18a65091cc1f104e66198103c5a3f8	@DISEASE$ (FHLH; MIM #267700) is an autosomal recessive disorder of immune regulation characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly, and cytopenia that is fatal without bone marrow transplantation.	has_symptom
+32da125ceaa642ede71b1d1d13dff4cac2a66339	@DISEASE$ typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, @PHENOTYPICFEATURE$, and other mild dysmorphic features.	has_symptom
+6b6770516abcb0e7561bf1c91418039a9767de1e	Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, seizures, delayed myelination, @DISEASE$, and other mild dysmorphic features.	false
+ebf13076e168008016c2dc4f749fa6b1308b2552	Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, @PHENOTYPICFEATURE$, delayed myelination, @DISEASE$, and other mild dysmorphic features.	false
+b63c31a172f6fc7cf1d6e055b4fdee6247f5d1a6	@DISEASE$ typically presented with global developmental delay, hypotonia, obstructive sleep apnea, @PHENOTYPICFEATURE$, delayed myelination, micrognathia, and other mild dysmorphic features.	false
+f278d0a163b9d6403682dd7d830c5e8746f58436	@DISEASE$ typically presented with global developmental delay, hypotonia, @PHENOTYPICFEATURE$, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.	false
+6e4022bcec84787a47af60783f2ef730f5fb3c1b	We report the case of a 31-year-old man with @DISEASE$, who presented with @PHENOTYPICFEATURE$ and severe claudication.	has_symptom
+e03dd0ecbf091b4e96135f1089703ab28b49032e	Till now, little is known about the neurobiological mechanisms underlying @DISEASE$-induced @PHENOTYPICFEATURE$ due to the lack of animal models.	has_symptom
+87a05052b58a32d226833ebb1171c73babda0e63	Electrophysiological recordings reveal that @PHENOTYPICFEATURE$ caused by @DISEASE$ have characteristics similar to that in flies treated with the GABA antagonist picrotoxin.	has_symptom
+beae13b582c107789ebfdf71d9ed762cf18223f2	The differential diagnosis of pyridoxine or PLP responsive @PHENOTYPICFEATURE$ disorders includes PLP-responsive epileptic encephalopathy due to @DISEASE$, neonatal/infantile hypophosphatasia (TNSALP deficiency), familial hyperphosphatasia (PIGV deficiency), as well as yet unidentified conditions and nutritional vitamin B6 deficiency.	has_symptom
+5e38ef4696e7b8443c84835849734154e0704b81	While PLP would be effective in all four disorders, pyridoxine fails to treat @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2e09f240e6e2e53738f3e76eb5a1b130e769367d	@DISEASE$ (HI) is a rare neurocutaneous disorder characterized by hypopigmented macules along the Blaschko line and multiple abnormalities, including @PHENOTYPICFEATURE$, developmental retardation, ophthalmologic defects, and chromosome mosaicism.	has_symptom
+ef927c0c835b8066479efb48a598ecfbf5864db0	The @DISEASE$ may be associated with severe bilateral ocular malformations including @PHENOTYPICFEATURE$, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia.	has_symptom
+74824528fc96b1273e460417f668f558e0f44a23	The @DISEASE$ may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+a36b45a5e64caef5bab9ff8e1fa789af1349da11	The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, @DISEASE$, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+b9e59207fdca40b26e66f547743140f2080c9312	The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including @DISEASE$, sclerocornea, corneal staphyloma, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+bd51689b9b50c1837dfe931fc50aea2e52d7b0ce	Except for ocular defects (i.e., microphthalmia, coloboma) consistent with @DISEASE$-type anomalies, the minor @PHENOTYPICFEATURE$ was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis.	has_symptom
+265e1bcd54445f7ec0ba53aacca68118663793a5	Except for ocular defects (i.e., @PHENOTYPICFEATURE$, coloboma) consistent with HPE-type anomalies, the minor @DISEASE$ was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis.	false
+c869531e2d42999fafc34a6fd88e62f78036a0d1	Except for ocular defects (i.e., @PHENOTYPICFEATURE$, coloboma) consistent with @DISEASE$-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis.	false
+0b61fac5543c654830ffe5e4184e644d40b105e6	@DISEASE$ and @PHENOTYPICFEATURE$: nosology, etiology and pathogenesis.	has_symptom
+b8bcd6c52037546ebc44c6b1edfd7c856d68e760	@DISEASE$, Hirschsprung megacolon, and Marcus Gunn @PHENOTYPICFEATURE$.	has_symptom
+8d637a8340699ce950d0d8f8ade1a098ccd683db	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	has_symptom
+81f51c614ea3e659838caa37b5a926a813ff27b7	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+b495dc4fab02abf5e473b57741237c21c0f48471	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+a5bf42372ce85c1336377165fab0f4894cf800fb	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+04e827c9a99397ddce8878af0aece507b3563498	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, @DISEASE$ and cleft palate.	false
+3f5e2911161b5d5f26db04b841751476ff50304c	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9b64ee9849963b3805233edc68703839e1c7dbf6	Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "@DISEASE$" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+2468c42cb21c9ada4da1e6affcd3a6162037e293	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+e05b1f05de9c22636c6f7065ac491232e0701ad1	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+44375657a8ba64c77011ba75d36686b4acfe2dde	@DISEASE$ is a rare disorder characterized by @PHENOTYPICFEATURE$, joint hypermobility, distinctive craniofacial and skull abnormalities, dental anomalies, and acroosteolysis of the distal phalanges.	has_symptom
+320764825c49f4cf88d28a93bd8bd4ff0cae7edf	Hajdu-Cheney syndrome is a rare disorder characterized by @DISEASE$, joint hypermobility, distinctive craniofacial and skull abnormalities, @PHENOTYPICFEATURE$, and acroosteolysis of the distal phalanges.	false
+2982ebf45f77d44e86e33918156da26d6abe5ad0	@DISEASE$ is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull abnormalities, @PHENOTYPICFEATURE$, and acroosteolysis of the distal phalanges.	false
+fc838e8ac144d1126ba62b95597d7a874b19eca1	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	has_symptom
+7a66267403bdc92b0cff9445bf75c2d8624fce2f	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, short stature, @DISEASE$, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+b1f58eb9d59f97231f3b8a839799ec4626e295f5	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with @DISEASE$-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+17b8e58e2cb17894aca1fac31c661e0f9e32c629	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+7b1bba4eb0ea090fcf29544fd455089cf3d7a3e9	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and @DISEASE$.	false
+20f671bd1de8ae84c67f48b5cabd7e0b1b6763f6	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+de2504b895caa626cddb8a3d3cdc5f48bda882d5	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with @DISEASE$-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+a38aa4799fc2dd1e46cf5c9ac8f88b96ba6ee205	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, @DISEASE$, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+42f91226db6a3ade0e3daaeca4b09432b44aa3c9	Hajdu-Cheney syndrome (@DISEASE$) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+c96af57ac79ea24ffccc6be2cb9ac7065ee78e3b	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+1e457af6e79644cbc73bd285bce8bf26077fafc8	Hajdu-Cheney syndrome (@DISEASE$) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+0b5f8487587021a224a62879f90d31b30109a689	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-@DISEASE$ and osteoporosis.	false
+f733a4a500ff694dd02dd0f1f795163779f267c9	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and @DISEASE$.	false
+3beb62c1b3087e42165a454932bf5d6a3f64eb68	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, @DISEASE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+700e8825f9fbed53ecc3cd4983c594681653da8f	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-@DISEASE$ and osteoporosis.	false
+aafdcfe6806ad1946e5a38681f6fffb350d0a7a0	@DISEASE$ (HCS) is an inheritable, rare disorder of bone metabolism, associated with acro-osteolysis of the distal phalanges, @PHENOTYPICFEATURE$, distinctive craniofacial and skull changes, premature tooth loss, and periodontitis.	has_symptom
+91b7a595c6e3f23853176565206ea680d8856d83	@DISEASE$ (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acro-osteolysis, severe osteoporosis, @PHENOTYPICFEATURE$, neurological symptoms, cardiovascular defects, and polycystic kidneys.	has_symptom
+2392603935ed5e71303df48ec33ede1b770c9a7d	@DISEASE$ (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, @PHENOTYPICFEATURE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	has_symptom
+140407bdd88d19612fdc1a6676d866983fab63ac	Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, @DISEASE$, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+9387dc2b3e69838b39d1517d7e70c33570ca1586	Hajdu-Cheney syndrome (@DISEASE$) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+802044ecb86ae855fed2aca4c2742bde466fbfa0	Hajdu-Cheney syndrome (HCS) is a rare @DISEASE$ characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+c830a0fc13dd76aab94e15d0beee2f618002bbfc	Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, @DISEASE$, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+761612eb20813f1e02995904de8cf2a97ba49f21	@DISEASE$ (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+96f5bdcfeb920af7807db16455677c82323759ad	A @DISEASE$ is a very rare congenital dysplastic bone disease including acro-osteolysis, @PHENOTYPICFEATURE$, characteristic facies, osteopenia, abnormalities of spine, skull and long bones.	has_symptom
+46e2550b931916d644d42390366f68e6e58fc90e	@DISEASE$ (HCS) is a rare hereditary bone metabolism disorder characterized by acro-osteolysis, @PHENOTYPICFEATURE$, craniofacial changes, periodontitis and premature tooth loss.	has_symptom
+5cd649857a3fc4772cc5189a7e9f0ab0de5649cc	Hadju-@DISEASE$ is characterized by @PHENOTYPICFEATURE$, distinctive facies, and a slowly progressive skeletal dysplasia including acro-osteolysis.	has_symptom
+49fb737aa8c855580c6d2123f51eb32c65a591b3	Hadju-Cheney syndrome is characterized by short stature, distinctive facies, and a slowly progressive @PHENOTYPICFEATURE$ including acro-@DISEASE$.	false
+2349f9851f5264bcc29a0e86f9d7876fd92c1067	Hadju-Cheney syndrome is characterized by @DISEASE$, distinctive facies, and a slowly progressive @PHENOTYPICFEATURE$ including acro-osteolysis.	false
+d69bc5abbd337f125d6be0494c8d32c2373d717d	Hadju-@DISEASE$ is characterized by short stature, distinctive facies, and a slowly progressive @PHENOTYPICFEATURE$ including acro-osteolysis.	false
+03603a0e18550d2ff23f9a9a0bbe2e2721a17601	The @DISEASE$ includes @PHENOTYPICFEATURE$, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones.	has_symptom
+302fa2a06cc9893123c9672dc42ea901954b4c95	The @DISEASE$ includes short stature, characteristic facies, and a slowly progressive @PHENOTYPICFEATURE$ which affects skull, spine, and long bones.	false
+7d00904cc7636fe99639e9d6baba982d6dbc7e1b	The Hajdu-Cheney syndrome includes @DISEASE$, characteristic facies, and a slowly progressive @PHENOTYPICFEATURE$ which affects skull, spine, and long bones.	false
+1290a420e2c5d8b02a9d924c9a152d960495d76b	Renal impairment in @DISEASE$ (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic @PHENOTYPICFEATURE$/hypercalciuria or exposure to toxic agents.	has_symptom
+399ff8a3f50a002f4e1fc4b46d66955c033b4a8c	Renal impairment in hypophosphatasia (@DISEASE$) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic @PHENOTYPICFEATURE$/hypercalciuria or exposure to toxic agents.	has_symptom
+1cc77508d8cec2ef941774113754df7de9b84e8e	Renal impairment in hypophosphatasia (@DISEASE$) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/@PHENOTYPICFEATURE$ or exposure to toxic agents.	false
+c02f5926749c60fc99743311ef1776748507341d	Renal impairment in @DISEASE$ (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/@PHENOTYPICFEATURE$ or exposure to toxic agents.	false
+e84bf84f9eb37741e41e101d4c411fe77bff9a24	Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even @DISEASE$ secondary to chronic hypercalcemia/@PHENOTYPICFEATURE$ or exposure to toxic agents.	false
+59e46ac811fc926f766b16756c1e59798f9d5c78	Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic @DISEASE$/@PHENOTYPICFEATURE$ or exposure to toxic agents.	false
+09926c71bfb9b330c1ba670e31dae355d6bc6593	None had @PHENOTYPICFEATURE$, @DISEASE$, hemochromatosis or hyperparathyroidism.	has_symptom
+fb6b221228cb5c14be9a4f809378f419ed7b28ba	None had hypercalcemia, @DISEASE$, hemochromatosis or @PHENOTYPICFEATURE$.	false
+ca3dd167073cfbd65cb6989fb47ea1f449d48c09	None had @DISEASE$, hypophosphatasia, hemochromatosis or @PHENOTYPICFEATURE$.	false
+3cdc45d2ec4a8e4aa339e4df0b3bf9f551ab7551	One of the individuals is an 11-year-old boy with a frameshift variant in exon 7 of NAA10, who presents most notably with @PHENOTYPICFEATURE$, which confirms a prior finding with a single family with @DISEASE$ syndrome.	has_symptom
+1c0d54c0253d4522c60d2cb2af8ba024e37f4f31	We describe 1 patient with @DISEASE$ who developed extensive portal thrombosis of the portal, suprahepatic, and inferior cava veins, leading to right heart @PHENOTYPICFEATURE$, with a resultant pulmonary embolism subsequent to splenectomy despite heparin prophylaxis.	has_symptom
+b16558aedd0c69de1d6b00e46a7a8b43b987164e	In the present study, a carrier with slight @PHENOTYPICFEATURE$ was detected in the family analyzed; however, no patients with deafness or @DISEASE$ were observed.	has_symptom
+d295f21b34537ef4bbd52a6260fc9b0f68657963	In the present study, a carrier with slight hearing impairment was detected in the family analyzed; however, no patients with @PHENOTYPICFEATURE$ or @DISEASE$ were observed.	has_symptom
+d261d7fae46184a97adca6322319a2f6716220d9	@DISEASE$ (BOR) is an autosomal dominant genetic disorder characterized by branchial fistulas, @PHENOTYPICFEATURE$, renal malformations and auricular anomalies.	has_symptom
+9b4da8978497199ef5079038807c7b5105651492	@DISEASE$ (BOR) is an autosomal dominant genetic disorder characterized by branchial fistulas, hearing impairment, @PHENOTYPICFEATURE$ and auricular anomalies.	false
+0ea365f3639d9c6174c1bdc034517d57543a365e	Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder characterized by branchial fistulas, @DISEASE$, @PHENOTYPICFEATURE$ and auricular anomalies.	false
+213c9150b2f2184947dfbeabf44b3b9b2e792287	Branchio-oto-renal syndrome (BOR) is an autosomal dominant @DISEASE$ characterized by branchial fistulas, hearing impairment, @PHENOTYPICFEATURE$ and auricular anomalies.	false
+92845e7ead6964c7c3c15390ce6a6950c319b24d	@DISEASE$ combines branchial arch defects, @PHENOTYPICFEATURE$ and renal malformations or hypoplasia.	has_symptom
+d0c525b16909f0592d7f7bf4b87ee8a10a16264a	@DISEASE$ combines branchial arch defects, hearing impairment and @PHENOTYPICFEATURE$ or hypoplasia.	false
+215f0447fa333b0596eb60bc1d0a09e2e67811e1	Branchio-oto-renal syndrome combines branchial arch defects, @DISEASE$ and @PHENOTYPICFEATURE$ or hypoplasia.	false
+bca5eee6948b7bc5bbfe03fb0af18b3d6f050e57	Evidence of progression and fluctuation of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+e841ac37b25b37efe424f43ac2694e448ce46cd7	The major features of the @DISEASE$ (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, @PHENOTYPICFEATURE$ and renal dysplasia.	has_symptom
+735770d80a8d49d28936c8a4b31c92ec9b53a7c1	The major features of the Branchio-Oto-Renal syndrome (BOR @DISEASE$), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, deafness and renal dysplasia.	false
+6ab9299b83561000afce267209574d410061b785	The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, deafness and @DISEASE$.	false
+714e9e8392b0565de6985e30b51dd3f5ee2a2c67	The major features of the @DISEASE$ (BOR syndrome), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, deafness and renal dysplasia.	false
+18a5f4ec5edff3617bca1b050880788de2a22496	The major features of the Branchio-Oto-Renal syndrome (@DISEASE$ syndrome), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, deafness and renal dysplasia.	false
+aee6f20bdfcb1e5c794e81072e7340f4c42157c7	The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, @DISEASE$ and renal dysplasia.	false
+c21cd096f5d7c622b1c252d54636648b294e0f7d	Pendred's syndrome, distal renal tubular acidosis, waardenburg's syndrome, X-linked congenital mixed @PHENOTYPICFEATURE$, @DISEASE$, and oto-facio-cervical syndrome can express their genotypic alteration as enlarged vestibular aqueduct syndrome.	has_symptom
+9227f122681cdc7d52ad00b9ebcbbd5397e9dd59	@DISEASE$ is an autosomal dominant disorder that affects an estimated 2% of profoundly @PHENOTYPICFEATURE$ children.	has_symptom
+405bdb05ccecbfd810ae43ea3ce53504880a44ed	We show that Eya1, which is mutated in a human @PHENOTYPICFEATURE$ disorder, @DISEASE$, is critical for Shh-dependent hindbrain growth and development.	has_symptom
+95da22fe57bab35ca43c8bab08889acf72c93c6a	Mice homozygous for the hypomorphic allele Eya1 ( bor ) exhibit cochlear aplasia, with associated @PHENOTYPICFEATURE$, and renal hypoplasia, similar to @DISEASE$ (BOR) in humans.	has_symptom
+a1b7a70ef6e87e9c380186ecdc4662fd4dea0cc7	Renal failure and @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+7ae41d14e0ed9d68cfd981c82092daa77729ac14	@PHENOTYPICFEATURE$ and @DISEASE$: branchio-oto-renal syndrome.	false
+b85f5cbdafad0c6a8e6fc2e8559aa576e190b842	@PHENOTYPICFEATURE$ and deafness: @DISEASE$.	false
+d9a82362de32523902c93d51bb79f8c6fdfaeff1	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	has_symptom
+71200f12fe832499cb3b71956c33f72af5c3b0b2	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (@DISEASE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+26114804b4ead38c5be8a0af12d28e16dd5b0b6e	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, @DISEASE$, and developmental delay.	false
+be45e133799d173407ba6766baff1dfc1cdd4cdb	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+b83365d4c5ea67eb49c9532c117467144d5cda9e	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (@DISEASE$, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+656610fb7e926644803c8c7cf709c785b8d8fbf1	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, cryptorchidism, and developmental delay.	false
+517953d7c0cea62a8c4e89c0218c0881c4797f05	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (@DISEASE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, cryptorchidism, and developmental delay.	false
+3868546222cb8c99a4fd2437634ed3d1376c253f	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+c4661f909732361f3213a482ea3f5a67103938a3	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+66e8ffb2c4613b519a33be5a80efe9015a3bdaf7	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (micrognathia, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+81cad42b986e52ba4b7122e61b86a0df0483fd8a	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, @PHENOTYPICFEATURE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	has_symptom
+4638992a1c5e9cdea363b8d2e47ca3e6af943631	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, @PHENOTYPICFEATURE$, and brain abnormalities may be seen in patients.	false
+bc0936182e991c62650e37bbc611b3eb1e74f7ec	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, @PHENOTYPICFEATURE$, and brain abnormalities may be seen in patients.	false
+100c2b39f9c27e2ce00418ce9bd8da6e05df13ec	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), @PHENOTYPICFEATURE$ (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+1b573b433f5ce46739e427792eafff0e4b8df088	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @PHENOTYPICFEATURE$, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+786c4545722b69ccac97be9693b836b5de71f13c	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), @PHENOTYPICFEATURE$ (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, @DISEASE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+51ab15d77151c24a28c936a11da25231a3ea5a28	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), heart defects (H), choanal atresia (A), @PHENOTYPICFEATURE$ (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+247a97cf4f3876464b2fb993343188827557d26b	@DISEASE$ is an autosomal dominant syndrome in which ocular coloboma (C), @PHENOTYPICFEATURE$ (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+d980978cac90b24656120985254b68ba0a0d33b6	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @PHENOTYPICFEATURE$, @DISEASE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+d8d06e268f89fff5ba864c1abfa8b2355992c7e2	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), @PHENOTYPICFEATURE$ (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+7aaaa183d329e9fb6d02364eaf8e054e5ccfae16	CHARGE syndrome is an autosomal dominant @DISEASE$ in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, @PHENOTYPICFEATURE$, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+7fcfefe0fef6879c40fe354754fe35cf43706b3d	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, @DISEASE$, facial paralysis, @PHENOTYPICFEATURE$, and brain abnormalities may be seen in patients.	false
+a01b73dc51c9cfc874176fa113bfceb0be2527f9	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), @PHENOTYPICFEATURE$ (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, @DISEASE$, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.	false
+ca043e9a385cb0f4eb02baca571010c70ac1d556	@DISEASE$ is associated with delayed postnatal circulatory adaptation characterized by pulmonary hypertension, systemic @PHENOTYPICFEATURE$, and prolonged ductal patency.	has_symptom
+d9faf67ba3161ded94450b0e0531aac89a05dd2b	He showed progressive @PHENOTYPICFEATURE$ and eosinophilia without any basal disorders and was diagnosed with @DISEASE$ (HES) accompanied by eosinophilic myocarditis.	has_symptom
+e7038b2994d443a7c00c61f442186203f19e21e0	Imatinib and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+977d5e26b0eac70bcd32cc11232de98555d59988	Thus, atrioventricular valve replacement may be beneficial to selected patients with @PHENOTYPICFEATURE$ associated with the endocardial process of the @DISEASE$.	has_symptom
+a91d02f25ff2176bfaa150d0260289ade8c665cb	We present an uncommon case of @DISEASE$ with cardiac involvement (fibroplastic parietal endocarditis --L?ffler's disease--) in a 48-year-old female with @PHENOTYPICFEATURE$ and hypereosinophilia.	has_symptom
+6a67e546356d0f71ae3360c14482c30ae141d3b7	A 43-year-old man with @DISEASE$ survived a relatively long term (6 1/2 years) before he succumbed to intractable @PHENOTYPICFEATURE$.	has_symptom
+11c2a46e7ce7e065624396c67f86ebb197f9e60a	The c.475_476delCT (P.L159VfsX39) mutation, located at the 3' end of the PITX2-coding region, was identified in a Chinese @DISEASE$ (ARS) patient who presented with an unusual severe phenotype of bilateral @PHENOTYPICFEATURE$.	has_symptom
+6d76e4ad031182f35b77dc47f3b59f10176ab961	@DISEASE$ (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short @PHENOTYPICFEATURE$ and horizontal ribs, a short ovoid tibia and major organ anomalies.	has_symptom
+1a7886f5debc23ed835fcc24a4d2d7e0fe2948e5	Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$, short @DISEASE$ and horizontal ribs, a short ovoid tibia and major organ anomalies.	false
+1a63971e22f6781737e02afd4908c02b87bb9c79	@DISEASE$ (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies.	false
+ec089105e795a4d3a4c31a4c1c357c5157667907	Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal @DISEASE$ characterized by @PHENOTYPICFEATURE$, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies.	false
+be5aef296dc0d9cf48f1bfa2b2999d10957bcced	@DISEASE$ (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$ dysplasia, narrow thorax, and polydactyly.	has_symptom
+f119d268238a3e1dc5b6a5ce63f0cbfbfdae737d	@DISEASE$ (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by short-limb dysplasia, narrow thorax, and @PHENOTYPICFEATURE$.	false
+8269fc12fd0aa5528043c384606a9be38dc0084e	Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal @DISEASE$ characterized by short-limb dysplasia, narrow thorax, and @PHENOTYPICFEATURE$.	false
+5c49eed7bcf408f25dcbee97d483c4dac9aeb664	Short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by @DISEASE$ dysplasia, narrow thorax, and @PHENOTYPICFEATURE$.	false
+d7998f8afa284765c3715ba53ea82c9ebbb5102b	@DISEASE$ (SRPS) consists of a group of lethal skeletal dysplasias presenting with @PHENOTYPICFEATURE$ and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities.	has_symptom
+c05e1aa99cda536f0ee0a0eb0a4ee63d885bbaac	Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with @DISEASE$ and ribs, hypoplastic thorax and @PHENOTYPICFEATURE$ with or without visceral abnormalities.	false
+85228eee0f987b346102c51c6f35a5ebdef0a603	@DISEASE$ (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and @PHENOTYPICFEATURE$ with or without visceral abnormalities.	false
+302e28d21ef1de6abc6201d3430837751cf0bc0d	We report on a boy with severe radial hypoplasia, absent thumbs and patellae, @PHENOTYPICFEATURE$, persistent diarrhea, slender nose and normal intelligence as another example of the @DISEASE$.	has_symptom
+59352143cf88997963a75d8fc27e2e233528da96	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, radial ray defects and other malformations, as well as infantile diarrhoea, but not by a significant cancer risk.	has_symptom
+ae76f391f16a7b95c81c838b0ad808920c374278	@PHENOTYPICFEATURE$ and cutaneous ulceration are rare accompaniments of chronic @DISEASE$ arthritis.	has_symptom
+3d556bef0e8ba3330e00b5186b785a398e377afd	We present a further patient who presented with hypoketotic @PHENOTYPICFEATURE$, hepatopathy, secondary @DISEASE$ and increased plasma long-chain acylcarnitines.	has_symptom
+56007ba124e97e0f37bbc7b3ed6c7a1f7b526618	Juvenile visceral steatosis (jvs) mice, isolated from the C3H-H-2 degrees strain, exibit a systemic @DISEASE$ (SCD) phenotype and develop fatty liver, hyperammonemia and @PHENOTYPICFEATURE$.	has_symptom
+42fdf77a62200edaadba494fba761da59aaae184	@DISEASE$ (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic @PHENOTYPICFEATURE$, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood.	has_symptom
+8fc24b374f3af173ac2634d950b8e067e1817613	Primary systemic @DISEASE$ (SCD; OMIM 212140) is an autosomal recessive disorder characterized by progressive cardiomyopathy, skeletal myopathy, @PHENOTYPICFEATURE$ and hyperammonaemia.	has_symptom
+e3d23d2023ba8c4ce4a0121ef89dd5640be02bf1	@PHENOTYPICFEATURE$, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to @DISEASE$.	has_symptom
+652464a2f4e54ecc63799872e23f389c5c957545	Agenesis of the corpus callosum, @DISEASE$ coloboma, intractable @PHENOTYPICFEATURE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+a08dea91e4fb16955ade6ad97648745e2696ff52	Agenesis of the corpus callosum, optic @DISEASE$, intractable @PHENOTYPICFEATURE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+ad5c2747c87a6dc6c6595cdb96f665c6dd9f266b	Agenesis of the corpus callosum, optic coloboma, intractable @PHENOTYPICFEATURE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to @DISEASE$.	false
+5cc82d4c5074410c528d343316bb26522dbab636	@DISEASE$, optic coloboma, intractable @PHENOTYPICFEATURE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+73dd2f6e08e90a6d318b1ff34f7a21d44dbd8314	We describe the phenotype of a 5 year old girl with features resembling @DISEASE$, including @PHENOTYPICFEATURE$, ventriculomegaly, frontal bossing, peaked eyebrows, ptosis, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas.	has_symptom
+69732396488b29bceb40c46c6c67521016abe8d8	We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including @DISEASE$, ventriculomegaly, frontal bossing, peaked eyebrows, @PHENOTYPICFEATURE$, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas.	false
+15e3436882c8c4f19ae6771b023c4f3205f5580c	We describe the phenotype of a 5 year old girl with features resembling @DISEASE$, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, @PHENOTYPICFEATURE$, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas.	false
+d7e22a040db56a73c7c3570e7e8e387a17308031	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/@DISEASE$, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and @PHENOTYPICFEATURE$.	has_symptom
+b998f83076a0acd7eacc4023f337ea8cda639668	The combination of synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and aseptic osteitis is known as @DISEASE$.	has_symptom
+56492d0301d1d427484d8ff87a2e908b355637cb	The association @DISEASE$ (Synovitis, Acne, Pustulosis, @PHENOTYPICFEATURE$, Osteitis) and pregnancy is very rare.	has_symptom
+a4fa8a1765b14747236d60024f4c8636d86b02ba	@DISEASE$ is a disorder characterized by Synovitis, Acne, Pustulosis, @PHENOTYPICFEATURE$, and Osteitis.	has_symptom
+c86f2cd9ed22b6cdd3bca6326e040af62101a322	@PHENOTYPICFEATURE$ and osteitis in @DISEASE$: conservative or surgical treatment.	has_symptom
+549bb4052ad0ba3095f3c8d31b71b74e49490552	Sternocostoclavicular @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3f04def68124c169e7d684bff6d2b880a05e8a90	She was diagnosed with @DISEASE$ (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, osteitis).	has_symptom
+60b50fc61f199820c15ba8bbbd0f905ccc7788c4	The @DISEASE$ in children: a rare cause of @PHENOTYPICFEATURE$ and osteitis.	has_symptom
+52b0741b663afeac0c93bf7630c68a61ea00e469	@DISEASE$ is characterized by synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis.	has_symptom
+ad16a020c70e1766a03ead3c6b50de18f5dc2098	Spond.hyp.p.-p. is associated with sternocosto-clavicular @PHENOTYPICFEATURE$ and resembles pustulotic arthroosteitis and @DISEASE$.	has_symptom
+9c9cc37fdddb3e36a65216469a234d4993db0daf	@PHENOTYPICFEATURE$ and multifocal osteitis: a purely rheumatological subset of the @DISEASE$.	has_symptom
+62b1a60513846c92ec9344e5193cc814b2ab9fd1	The most frequent types of @PHENOTYPICFEATURE$ were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15,000 births), @DISEASE$ and achondrogenesis (0.28 0/000).	has_symptom
+582e785ff390fc0b87436868c0bf8669361e7879	Acanthosis nigricans might be seen in severe @PHENOTYPICFEATURE$, including @DISEASE$ and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia.	has_symptom
+799f047c27a55b3221bc20f8dccd33b46e444646	@DISEASE$ (TD) is a lethal form of @PHENOTYPICFEATURE$ with short-limb dwarfism.	has_symptom
+b47c4428c43bdc5e2ab85cedee2bf4f9f7afd70b	Thanatophoric dysplasia (TD) is a lethal form of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+6d2fb02954ed374bc208ffcf575b58226115d697	@DISEASE$ (TD) is a lethal form of skeletal dysplasia with @PHENOTYPICFEATURE$.	false
+7885a3f5ea4099f13bf1e1eb794f850be7d189d8	@DISEASE$ (TD) is a lethal form of short-limb @PHENOTYPICFEATURE$ that is associated with macrocephaly, and variably cloverleaf skull.	has_symptom
+1ca6964e375d93f95b702160334b5dd83b5c4cc2	@DISEASE$ (TD) is a lethal form of @PHENOTYPICFEATURE$ skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull.	false
+6091185ee56286649ca2397290c325516e009a87	@DISEASE$ (TD) is a lethal form of short-limb skeletal dysplasia that is associated with @PHENOTYPICFEATURE$, and variably cloverleaf skull.	false
+c379b3a17ac249277c1a25178d299338353e55b8	Thanatophoric dysplasia (TD) is a lethal form of short-limb @DISEASE$ that is associated with @PHENOTYPICFEATURE$, and variably cloverleaf skull.	false
+a595116c6a386f1ed18d313b616b8e40bb336302	Thanatophoric dysplasia (TD) is a lethal form of @PHENOTYPICFEATURE$ @DISEASE$ that is associated with macrocephaly, and variably cloverleaf skull.	false
+3b57930e6dd9a7a8267746557880f50c0cb7edc4	@DISEASE$ is one of the most common @PHENOTYPICFEATURE$, with an incidence from 1:6,400 to 1:100,000 births.	has_symptom
+b7b649cee87ab47119be4b0c7ccdae9442d1234a	FGFR3-related condition: a @PHENOTYPICFEATURE$ with similarities to @DISEASE$ and SADDAN due to Lys650Met.	has_symptom
+1b56890014a57c77bc25bc467c22ca2b7a6c0bed	Diagnosis of @PHENOTYPICFEATURE$ by multidisciplinary assessment: a report of two cases of @DISEASE$.	has_symptom
+2bf2b10d9a0a73e7f5df00be3e2a92ed7ad5424c	@DISEASE$ (TD), a severe @PHENOTYPICFEATURE$, is virtually always lethal neonatally, although a few previous reports have documented survival up to 4.75 years.	has_symptom
+46e73b7e95163f38bccc94e0e0c2e0b508d0a8f9	@DISEASE$ (TD) is a well-known fatal @PHENOTYPICFEATURE$ in fetal life.	has_symptom
+588598e1be4786a3c35f41ec65a08c1203b973ad	Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a @PHENOTYPICFEATURE$ distinct from @DISEASE$.	has_symptom
+602cd4e87c4690b344a9295e2dc405f08471a431	@PHENOTYPICFEATURE$ disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of @DISEASE$ disorders, sometimes with a presentation of pseudo-Bartter's syndrome.	has_symptom
+e3902feef7f6a148dc13c5037a085cad416f18d0	Activating mutations of this receptor cause @DISEASE$, a syndrome characterized by @PHENOTYPICFEATURE$ and hypercalciuria.	has_symptom
+4ccfa5b4346eb7f4df7318697367d7b2217f192f	Activating mutations of this receptor cause autosomal dominant hypocalcemia, a syndrome characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4b80537936be80615ffd6aee59c7b710245c38c8	Activating mutations of this receptor cause @DISEASE$, a syndrome characterized by hypocalcemia and @PHENOTYPICFEATURE$.	false
+c897fd89b61f956cda13be521874698f05aac012	We reviewed the records of 209 patients from our institutional database with @DISEASE$ of the proximal femur, investigating possible predisposing factors including patient demographics, the extent of the @PHENOTYPICFEATURE$ deformity, the presence of peri-articular disease, and the overall burden of skeletal disease.	has_symptom
+2e7528ccf995817a36abb03ccfd686aa69bea6d6	[Episodic adynamia (@DISEASE$ Gamstorp), a familial @PHENOTYPICFEATURE$ paralysis, Clinical and experimental investigation].	has_symptom
+30684ac2f8a42faa4d2d39f05283d77079b78563	[Episodic adynamia (@DISEASE$ Gamstorp), a familial hyperkalemic @PHENOTYPICFEATURE$, Clinical and experimental investigation].	false
+c459c88a2ebd7bb40270e056342c794d37acd6d3	[Episodic adynamia (adynamia episodica hereditaria Gamstorp), a familial @DISEASE$ @PHENOTYPICFEATURE$, Clinical and experimental investigation].	false
+62932dde687b327692865f72c2ee82feaf04c004	Neonatal diarrhea in calves can result in potentially serious metabolic derangements including profound acidemia due to strong ion (metabolic) acidosis, @DISEASE$-D-lactatemia, hyper-L-lactatemia, azotemia, hypoglycemia, @PHENOTYPICFEATURE$ and hyponatremia.	has_symptom
+2dc92de51a7eb298551d12855878aeb78d618ff5	Neonatal diarrhea in calves can result in potentially serious metabolic derangements including profound acidemia due to strong ion (metabolic) acidosis, hyper-D-lactatemia, @DISEASE$-L-lactatemia, azotemia, hypoglycemia, @PHENOTYPICFEATURE$ and hyponatremia.	has_symptom
+be9df2a08001e1bfe0e9d729bc3ff8d129b43d1f	Mutations of the genes encoding several subunits of the voltage-gated Na+-channel and GABA(A) receptor, a ligand-gated ion channel, were also identified as underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with @PHENOTYPICFEATURE$ plus or generalized epilepsy with febrile seizures plus, benign familial neonatal infantile seizures and autosomal dominant @DISEASE$.	has_symptom
+d3fb6e82df8a41db67e690f243927590ab8ab621	Mutations of the genes encoding several subunits of the voltage-gated Na+-channel and GABA(A) receptor, a ligand-gated ion channel, were also identified as underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with febrile seizures plus or generalized epilepsy with @PHENOTYPICFEATURE$ plus, benign familial neonatal infantile seizures and autosomal dominant @DISEASE$.	has_symptom
+b32c4a62f17742bf6bb8512d7d6e23a3d40786c8	Mutations of the genes encoding several subunits of the voltage-gated Na(+)-channel and gamma-aminobutyric acid (GABA)(A) receptor also were identified as the underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with @PHENOTYPICFEATURE$ plus, benign familial neonatal infantile seizures, and autosomal dominant @DISEASE$.	has_symptom
+0867992a17846945ac71fa1e717a414623e90335	Mutations in ligand-gated ion channel genes associated with idiopathic generalized epilepsies have been reported in excitatory acetylcholine receptor alpha4 and beta2 subunit genes linked to autosomal dominant nocturnal frontal lobe epilepsy and in inhibitory GABA(A) receptor alpha1, beta3, gamma2, and delta subunit genes associated with childhood absence epilepsy, @DISEASE$, pure @PHENOTYPICFEATURE$, generalized epilepsy with febrile seizures plus, and generalized epilepsy with tonic-clonic seizures.	has_symptom
+e891402f8f97372ac3ca1e1c4b70a55ad6baa9f4	Mutations in ligand-gated ion channel genes associated with idiopathic generalized epilepsies have been reported in excitatory acetylcholine receptor alpha4 and beta2 subunit genes linked to autosomal dominant nocturnal frontal lobe epilepsy and in inhibitory GABA(A) receptor alpha1, beta3, gamma2, and delta subunit genes associated with childhood absence epilepsy, @DISEASE$, pure febrile seizures, generalized epilepsy with @PHENOTYPICFEATURE$ plus, and generalized epilepsy with tonic-clonic seizures.	has_symptom
+36b4d70a39d97ae5558c850a241eab4050f059b0	@DISEASE$, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with @PHENOTYPICFEATURE$ are discussed as examples of epileptic conditions in (apparently) structurally normal brains.	has_symptom
+ad41e124b884f8c91e11a411f19aa29891afd7b2	Increased prevalence of @PHENOTYPICFEATURE$ and obesity-related postoperative complications in male @DISEASE$ patients.	has_symptom
+2e362ea1a6d7fd26e274b37c77aab5e5a3d258e0	Increased prevalence of obesity and @PHENOTYPICFEATURE$-related postoperative complications in male @DISEASE$ patients.	has_symptom
+8f6f21594d2dd2c68c4cd0fe791f9fa22ebf31a0	Overweight, @PHENOTYPICFEATURE$ and @DISEASE$ risk: a meta-analysis.	has_symptom
+3aa18ca334954a2541ee48d62a7e9489c6e2cc7c	Hunting for the causes of @DISEASE$--@PHENOTYPICFEATURE$ is a suspect.	has_symptom
+0dce7b6e6544121aac921ec01a63c8eb5f143581	This study does not confirm overweight or @PHENOTYPICFEATURE$ as risk factors for @DISEASE$.	has_symptom
+f8689e18070c37d0a50e4b6fa34d3104be4da4a4	Mendelian randomization provides support for @PHENOTYPICFEATURE$ as a risk factor for @DISEASE$.	has_symptom
+c2ea9e148344eec79c7956050b12040f6dbd387c	In males, overweight/@PHENOTYPICFEATURE$ status correlated with increased @DISEASE$ risk (pooled RR = 1.58, 95%CI: 1.22-2.04,	has_symptom
+a4d2cfb37e69a099ebceb09e886da0c3afca8842	Our analysis provides additional support for @PHENOTYPICFEATURE$ being associated with an increased risk of @DISEASE$.	has_symptom
+6081139b6e5881e27a77024f92ed1dbbe8d719b3	These findings provide one rationale for why lineage TF expression is maintained in @DISEASE$ and for the epidemiological association of female sex and @PHENOTYPICFEATURE$ with meningioma risk.	has_symptom
+c8d11dde5fb0a63daca0e890fa67d15588f86d6f	These findings provide one rationale for why lineage TF expression is maintained in meningioma and for the epidemiological association of female sex and @PHENOTYPICFEATURE$ with @DISEASE$ risk.	has_symptom
+02b46572f56f582a2db1e4af24c1829e45958b54	Bronchial asthma, smoking, and @PHENOTYPICFEATURE$ were not significantly associated with @DISEASE$.	has_symptom
+cbc20c5d1a8176b420047ac50a5fd8b9ec3df354	@PHENOTYPICFEATURE$, smoking, and @DISEASE$ were not significantly associated with meningioma.	false
+bf7f3641c7fc3af5fa1bfd1f074f39eb4e65b59e	@PHENOTYPICFEATURE$, smoking, and obesity were not significantly associated with @DISEASE$.	false
+4b00d0d1b1955490a811342b715ce6dc1cf9838f	To evaluate the potential effects of @PHENOTYPICFEATURE$-related prediagnostic glucose, triglycerides and cholesterol on meningioma and of prediagnostic @DISEASE$ on these biomarkers, we conducted a cohort study.	has_symptom
+49c509ab5e12a2d9fa7a5fe98b01742a13ae96d4	To evaluate the potential effects of @PHENOTYPICFEATURE$-related prediagnostic glucose, triglycerides and cholesterol on @DISEASE$ and of prediagnostic meningioma on these biomarkers, we conducted a cohort study.	has_symptom
+e16c484dc263b95943f87e5c14789601e5bbce1b	Our patient is the first case described to present a typical @DISEASE$ and @PHENOTYPICFEATURE$ associated with epilepsy.	has_symptom
+5e4d2c54489b2370b3755b1da46da244b5c0926c	We review the scanty literature data on the association of @DISEASE$ and @PHENOTYPICFEATURE$ and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.	has_symptom
+2796f0cf8ee0a602ea3eec32a67978e7910cc4a3	We review the scanty literature data on the association of @DISEASE$ and autism and emphasize that the association of progressive macrocephaly and @PHENOTYPICFEATURE$ seems to be an indication for screening for PTEN mutations.	false
+3ba4689c2733dc35a55bda6fb728913887134da6	We review the scanty literature data on the association of Cowden syndrome and @DISEASE$ and emphasize that the association of progressive macrocephaly and @PHENOTYPICFEATURE$ seems to be an indication for screening for PTEN mutations.	false
+9ef414738f2ceed64073b74ca48d231d7f2364c9	Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of @DISEASE$ (CS), Bannayan-Riley-Ruvalcaba syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+0a97e83bdf0e6ea01b632cdc1653426b1375a61a	Germline mutations in the @PHENOTYPICFEATURE$-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), @DISEASE$, and autism.	false
+cfcb3701ec207f01a6eca05e4d629d7bf01c836a	Germline mutations in the @PHENOTYPICFEATURE$-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and @DISEASE$.	false
+4aaa9eeb393779c7fe1520ce92b0e474c351a4b6	Germline mutations in the @PHENOTYPICFEATURE$-suppressor gene PTEN predispose to subsets of @DISEASE$ (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism.	false
+b38bc213dc2701fa5ceeb2b430b5a72cd1465c0f	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+2eeaee7aac6ace4a635045b6126d3a421e6345f1	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, Lhermitte-Duclos disease, and autism.	false
+a379290565408b87dbf5d7094b9c304a31b6cda0	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, Lhermitte-Duclos disease, and @DISEASE$.	false
+edec186a7b8a675c4e5289783adf5cdeb4b0bf22	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, Lhermitte-Duclos disease, and @DISEASE$.	false
+51c9fa6b53dc2a02e5315d781bb58c874734160b	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human @DISEASE$, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, Lhermitte-Duclos disease, and autism.	false
+41c66c5d37502306319b45efa471e47e6e2711aa	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including @PHENOTYPICFEATURE$, seizures, @DISEASE$, and autism.	false
+5d64bef598e4c0031426af8ea764a6d8a5bc5a13	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, and autism.	false
+756e7ceb40ffde5f5054a799b00d4dd5ebc3ea49	However, germline mutations can determine @DISEASE$ and, as more recently ascertained, syndromes clinically characterized by @PHENOTYPICFEATURE$ associated with macrocephaly.	has_symptom
+2c333c9f49c5f3870dd86a11c734958ef2997f84	However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+2810962acc31fe9f8890076416a2fe37dda0a2e6	However, germline mutations can determine @DISEASE$ and, as more recently ascertained, syndromes clinically characterized by autism associated with @PHENOTYPICFEATURE$.	false
+c00ac8abdfb4689c0ad7ae807a7b784238b6ea07	PHTS incorporates a number of historical clinical presentations including Bannayan-Riley-Ruvalcaba syndrome, @DISEASE$, and a macrocephaly-@PHENOTYPICFEATURE$/developmental delay syndrome.	has_symptom
+a78c5d0c060a17405cbbe87007142e26b8c7ab66	PHTS incorporates a number of historical clinical presentations including Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, and a @PHENOTYPICFEATURE$-autism/developmental delay @DISEASE$.	false
+3028d7801adbcc8f9a2a04160a78421858bc63b5	PHTS incorporates a number of historical clinical presentations including Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, and a @PHENOTYPICFEATURE$-@DISEASE$/developmental delay syndrome.	false
+ae8fd7a4fe7684d4e2fa162239880c9794d8830b	PHTS incorporates a number of historical clinical presentations including @DISEASE$, Cowden syndrome, and a @PHENOTYPICFEATURE$-autism/developmental delay syndrome.	false
+82cbca7c694ba3d6711fb6b28b9bd746b3d1a7a1	PHTS incorporates a number of historical clinical presentations including Bannayan-Riley-Ruvalcaba syndrome, @DISEASE$, and a @PHENOTYPICFEATURE$-autism/developmental delay syndrome.	false
+cc0d46b5a28bfa6f9b774243d847bf70c05eae36	Phosphatase and tensin homolog (PTEN) gene mutations and @PHENOTYPICFEATURE$: literature review and a case report of a patient with @DISEASE$, autistic disorder, and epilepsy.	has_symptom
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	has_symptom
+7fabc9b77fe4a1361925710d880c4d68bdc3366d	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to @DISEASE$ predisposition.	false
+7f27ff96985114df1c15f1249582a5f0951bbd31	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and @DISEASE$, in addition to cancer predisposition.	false
+c62a128bbf63f7f29bc095f2e26f13e362ba4758	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+872ea7f33a190cf5073423aee1d92d76b0347a42	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @DISEASE$, in addition to cancer predisposition.	false
+e40baf17e8885229cee36bf6f3097af1ef6cc7d1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+bbf7dc61a70bbd87cc1b8cdcfa46ccf8e430f642	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to @DISEASE$ predisposition.	false
+3fe84be3687a0c679caa85e0caa6f58b0f603e99	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+8d117851fdd81d29481ffa30020aa2a2efe940f5	Effects of inherited mutation of PTEN are highly variable and include @PHENOTYPICFEATURE$, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and autism, in addition to cancer predisposition.	false
+0c6ddd029220a90bd40d9cfefc9f558180f6e9c1	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, @PHENOTYPICFEATURE$ and autism, in addition to cancer predisposition.	false
+b22897e880bbdd50ace23dc91daeb02d58864182	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to @DISEASE$ predisposition.	false
+5d2cc083dc2dff3d72d2f2ec40acdb4b802dbae9	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and @DISEASE$, in addition to cancer predisposition.	false
+0a75daac10049b1d4cc044065cb0f29a355d6baa	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the @PHENOTYPICFEATURE$, seizures and autism, in addition to cancer predisposition.	false
+72ba31245625f4fc11e7a577e461e92e6fb3471f	PTEN mutation in a family with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+7e0f86d995f2bc0b536ce738f233e11afed72d8a	Increased risks for B-cell-activating autoimmune disease and hepatitis C virus seropositivity and decreased risks for alcohol consumption and occupation as a teacher generally were restricted to marginal zone lymphoma, Burkitt/Burkitt-like lymphoma/@PHENOTYPICFEATURE$, diffuse large B-cell lymphoma, and/or @DISEASE$/Waldenstr?m macroglobulinemia.	has_symptom
+8bedc2f72d0ab37517cd34b48492a555726853d9	On the basis of cytology and membrane phenotype the following disorders were defined: (i) B cell type: chronic lymphocytic leukaemia (CLL); CLL of mixed cell type, which includes cases with more than 10% and less than 55% prolymphocytes (CLL/PL), and a less well defined form with pleomorphic lymphocytes but less than 10% prolymphocytes; prolymphocytic leukaemia (PLL); hairy cell leukaemia (HCL); HCL variant; splenic lymphoma with circulating villous lymphocytes; leukaemic phase of non-Hodgkin's lymphoma (follicular lymphoma, intermediate, or mantle zone lymphoma and others); @DISEASE$ with peripheral blood disease (mostly Waldenstr?m's macroglobulinaemia); and plasma cell @PHENOTYPICFEATURE$.	has_symptom
+8d33b283276d8bf0ecaee38f622550b1b5625afc	Cell counts in regions CA1, CA3, dentate gyrus and dentate hilus did not differ in rats under any condition of @PHENOTYPICFEATURE$ and @DISEASE$, in either P20 or P60 rats compared to age-matched controls.	has_symptom
+663fc23ccb5395ca983882593589488668c46f61	We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are @PHENOTYPICFEATURE$, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of @DISEASE$.	has_symptom
+5ef6b9196c1471b246bfe5cb0da99864005f7435	We suggest that galactosyltransferase-I deficiency does not cause the progeroid form of @DISEASE$, but instead results in a clinically recognizable syndrome comprising @PHENOTYPICFEATURE$, joint hypermobility, radioulnar synostosis, and severe hypermetropia.	has_symptom
+37ea378bb348e2f988f3a15c92598faffbad6b83	Comprehensive clinical evaluation of the first pediatric case reported with @DISEASE$ reveals oculocutaneous @PHENOTYPICFEATURE$ and platelet storage pool deficiency; his phenotype is consistent with findings in other patients with BLOC-1 disorders.	has_symptom
+34627b32992cc8695b8dd229f7fd23e2857f8b5e	[Skin involvement by multiple hemangiomatous nodules and @PHENOTYPICFEATURE$--@DISEASE$].	has_symptom
+99a6afc9714571605df270a3fffd3714bc2a79f9	Studies evaluating their efficacy in chronic leg ulcers and @DISEASE$ @PHENOTYPICFEATURE$ are ongoing.	has_symptom
+f3630dafd926dd380c7609726e2af312e179ba76	In a multivariate logistic regression analysis, the angle between the bilateral SEMSs (ABBS) >104? (odds ratio 50.49, 95% CI 3.370-2131, P = 0.0039) and @PHENOTYPICFEATURE$ (odds ratio 25.70, 95% CI 1.121-1234, P = 0.0423) were risk factors for @DISEASE$ failure.	has_symptom
+2d014dcb32ea635f5d0d629447986fb8a28aa8e1	@DISEASE$ (SMC) is a rare autosomal recessive spondylo-epi-metaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome (DMC) but with normal intelligence and no @PHENOTYPICFEATURE$.	has_symptom
+b32c198bd502fa5e808c41da8911cb2bfb28a762	Moreover, when marked @PHENOTYPICFEATURE$ duration and severity are obtained by doubling the dose of chemoconvulsants in alpha 1b-AR KO, neuronal degeneration never @DISEASE$.	has_symptom
+fb9102e7663c53fb341bd4e8388c8bc9d0460f80	In a kainic acid (KA)-induced mouse @PHENOTYPICFEATURE$ model, p38 MAPK is induced in reactive astrocytes in the CA3 region of the hippocampus where severe neuronal loss @DISEASE$.	has_symptom
+233f873c38e040ddaf29d7017c92271bf79dcd0b	These studies reveal brain region- and cell-specific UPS impairment @DISEASE$ after seizures and suggest UPS inhibition can protect against @PHENOTYPICFEATURE$-induced brain damage.	has_symptom
+78c0d8147a1754979240583d6deb1acbf560b473	These studies reveal brain region- and cell-specific UPS impairment @DISEASE$ after @PHENOTYPICFEATURE$ and suggest UPS inhibition can protect against seizure-induced brain damage.	has_symptom
+e281d41c1d9a2c1f7eea6bc2cc74c3ed664f9673	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, @PHENOTYPICFEATURE$, band keratopathy, cataracts, glaucoma and short stature.	has_symptom
+9681300f6fe296c3d5077a731b88506f4b4731ec	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, @PHENOTYPICFEATURE$, @DISEASE$, band keratopathy, cataracts, glaucoma and short stature.	false
+1a934e4b7d538b5970bfe8206c0e5afa92806bbd	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, @DISEASE$, band keratopathy, cataracts, glaucoma and @PHENOTYPICFEATURE$.	false
+434b03ee9bb8ce13081406b57c823c14c1bd07b4	We describe a 16-year-old female with persistent isolated @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, band keratopathy, cataracts, glaucoma and short stature.	false
+9de7ce9aecb7c5f3546ad407e3ec0b6aabb27dc8	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma and @PHENOTYPICFEATURE$.	false
+409e2828dedc1212f7cc19ab51579855425b3953	We describe a 16-year-old female with persistent isolated @DISEASE$, cerebral calcification, mental retardation, band keratopathy, @PHENOTYPICFEATURE$, glaucoma and short stature.	false
+055f861d1be4e52f90b994d882cd76a23ce2f9a7	We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, @DISEASE$, band keratopathy, @PHENOTYPICFEATURE$, glaucoma and short stature.	false
+5db705c1078fe0432a54a5011b77e09d33afa687	Permanent isolated @DISEASE$ (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, @PHENOTYPICFEATURE$, and ocular abnormalities.	has_symptom
+ac718a0bff153670189886d9d37fc83ea61d04d9	Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a @DISEASE$ involving @PHENOTYPICFEATURE$, isolated pRTA, mental retardation, and ocular abnormalities.	false
+618faf5f3dd2e36f826b97dc06ae9d2c8afa938f	Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving @PHENOTYPICFEATURE$, isolated pRTA, @DISEASE$, and ocular abnormalities.	false
+7f4a867abb927c0768999bab7ebcbaf8eaa6b882	Permanent isolated @DISEASE$ (pRTA) with ocular abnormalities is a systemic disease involving @PHENOTYPICFEATURE$, isolated pRTA, mental retardation, and ocular abnormalities.	false
+b238e160bb557d2e7fa7d25223f0c982e2c7357e	Disruptions involving NCBT genes are linked to blindness, deafness, @DISEASE$, @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+af1f867784c666f61d54b5de6a7a795a66c7ff04	Disruptions involving NCBT genes are linked to blindness, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, and epilepsy.	false
+7d793f8bdfdaae3520aef286357c4776d475712b	Disruptions involving NCBT genes are linked to @PHENOTYPICFEATURE$, deafness, proximal renal tubular acidosis, @DISEASE$, and epilepsy.	false
+20f9914cf0224e618292de47454ef013341e5448	Disruptions involving NCBT genes are linked to blindness, @PHENOTYPICFEATURE$, proximal renal tubular acidosis, @DISEASE$, and epilepsy.	false
+d1454ff1bb0b1f02749f8d4d2b929cd41cc5f8d7	Disruptions involving NCBT genes are linked to @PHENOTYPICFEATURE$, deafness, @DISEASE$, mental retardation, and epilepsy.	false
+3bc1e15706fd8c51f81c07330b99ebab89f2a29b	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe @DISEASE$, which often comprises extrarenal symptoms, such as @PHENOTYPICFEATURE$ and developmental delay, glaucoma, cataract and band keratopathy.	has_symptom
+48513ac8b7bf11a4b375ddcb44de771b6777b96f	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe @DISEASE$, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, @PHENOTYPICFEATURE$ and band keratopathy.	false
+feabf3d1fb0eef8e6c28785547fc29360ab1cd77	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as @DISEASE$ and developmental delay, glaucoma, @PHENOTYPICFEATURE$ and band keratopathy.	false
+71ae9cc25a11d938a813af6be4d95b9049a6bcfc	Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, @DISEASE$, @PHENOTYPICFEATURE$ and band keratopathy.	false
+d6874b6370e6d51e41f21718d774918f71073401	The proband of this study was a one-day-old female, who presented with major clinical characteristics of the @DISEASE$, and had severe malformations in the form of @PHENOTYPICFEATURE$, cleft palate, and severe laryngomalacia.	has_symptom
+eff627b8d298bda4ba6d20276b93f27f8a7ca22a	The proband of this study was a one-day-old female, who presented with major clinical characteristics of the @DISEASE$, and had severe malformations in the form of anal atresia, @PHENOTYPICFEATURE$, and severe laryngomalacia.	false
+b353e757e58a03215caff87b4cf9d1adec5c21c5	The proband of this study was a one-day-old female, who presented with major clinical characteristics of the Pallister-Killian syndrome, and had severe malformations in the form of @DISEASE$, @PHENOTYPICFEATURE$, and severe laryngomalacia.	false
+254c60e2a2ab52024e19eafafcab275df99656e2	When the physiological requirements of iodine are not met in a given population, a series of functional and developmental abnormalities @DISEASE$ (Table 1), including thyroid function abnormalities and, when iodine deficiency is severe, endemic goiter and cretinism, endemic @PHENOTYPICFEATURE$, decreased fertility rate, increased perinatal death, and infant mortality.	has_symptom
+9901d70e8f198cab426eff99cbdfeaa145194e3f	When the physiological requirements of iodine are not met in a given population, a series of functional and developmental abnormalities @DISEASE$ including thyroid function abnormalities and, when iodine deficiency is severe, endemic goiter and cretinism, endemic @PHENOTYPICFEATURE$, decreased fertility rate, increased perinatal death, and infant mortality.	has_symptom
+6de860d0f271e7838770ee085db3756226aa4355	To determine whether transmission of hepatitis B virus @DISEASE$ among @PHENOTYPICFEATURE$ patients in six institutions, from 1986 to 1988, 373 patients (males 203, females 170, 18-53 years of age, mean age 29.9) were tested for hepatitis B markers.	has_symptom
+22538f462397c08657c7dde99d1d46696a19c243	This is a case of a mutation in the KMT2D gene in a girl with @DISEASE$ who presented with endocrine symptoms (constitutional delay of puberty, hypothyroidism, @PHENOTYPICFEATURE$ and growth hormone deficiency).	has_symptom
+4f9a3634a7c98fd5465096532417be877a4c41b1	The disorder is characterized by a range of clinical phenotypes of which the major manifestations are mental impairment, @PHENOTYPICFEATURE$, skeletal changes, and @DISEASE$.	has_symptom
+e3f989ed6294ab3559b0360f5c3c82a42e68962b	The disorder is characterized by a range of clinical phenotypes of which the major manifestations are @PHENOTYPICFEATURE$, @DISEASE$, skeletal changes, and immunodeficiency.	false
+fef03c45bda3e1e777f6e11ea6933144b45ea64f	The disorder is characterized by a range of clinical phenotypes of which the major manifestations are @PHENOTYPICFEATURE$, hearing impairment, skeletal changes, and @DISEASE$.	false
+e750284ae65c61aa06d70b36064b90778105aacd	CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/@PHENOTYPICFEATURE$) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to @DISEASE$.	has_symptom
+10cf15351bc265be4e95601c039e8e559b8065c9	CHARGE (@DISEASE$, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and @PHENOTYPICFEATURE$/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.	false
+d233801d8dd62fc8098fa917d92fea309e63492d	CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and @PHENOTYPICFEATURE$/@DISEASE$) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.	false
+0faf365d00003597c87de8f15f2728f804745ddd	CHARGE (coloboma, @PHENOTYPICFEATURE$, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) @DISEASE$ is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.	false
+a96150921cd734c301a67edf3339a950bddfcdcf	CHARGE (coloboma, @PHENOTYPICFEATURE$, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/@DISEASE$) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.	false
+64dffad155bd923a898694759ce53e106ee4b04a	CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and @PHENOTYPICFEATURE$/deafness) @DISEASE$ is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.	false
+98d3e99304257fe30dd3dcd1287efd7bb4d03589	CHARGE (@DISEASE$, @PHENOTYPICFEATURE$, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency.	false
+cbe8de3c77c22b9cafa08ec137c0b21f332d2e42	CHARGE (coloboma, @PHENOTYPICFEATURE$, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to @DISEASE$.	false
+3ce3b0a25458604fcb66a51d50c55cbfe14df4f9	CHARGE (coloboma, @PHENOTYPICFEATURE$, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare @DISEASE$ caused by CHD7 mutation and is related to immunodeficiency.	false
+c2f41874ef7b1ce25c87dc6532da2d5d5db7308f	CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and @PHENOTYPICFEATURE$/deafness) syndrome is a rare @DISEASE$ caused by CHD7 mutation and is related to immunodeficiency.	false
+658b43a7247ef2e6da936d804b87230395ac9901	CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and @PHENOTYPICFEATURE$/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to @DISEASE$.	false
+81229542490b6019ee0a5e9e69ecdbc8f35e0573	The resulting intracellular accumulation of mannose-containing oligosaccharides leads to mental retardation, @PHENOTYPICFEATURE$, skeletal changes, and @DISEASE$.	has_symptom
+03568cd996cbdf03048c860eb98d12123ae18e90	The resulting intracellular accumulation of mannose-containing oligosaccharides leads to @PHENOTYPICFEATURE$, hearing impairment, skeletal changes, and @DISEASE$.	false
+a3a264d03428612b69e4a2681e030fc728eb1cd1	The resulting intracellular accumulation of mannose-containing oligosaccharides leads to @PHENOTYPICFEATURE$, @DISEASE$, skeletal changes, and immunodeficiency.	false
+220375fe9628d7597128831aa809fd210cdfa6f0	GATA3 haploinsufficiency also causes human HDR (hypoparathyroidism, @PHENOTYPICFEATURE$, and renal dysplasia) syndrome, often accompanied by @DISEASE$.	has_symptom
+43895abaf00c9b6ca95e856491f48ab04d0c73c0	Some misconceptions and false beliefs were observed among PHC nurses, as many of them considered diabetes a contagious disease or primarily caused by stress; that liver failure, @PHENOTYPICFEATURE$ and splenomegaly are among the complications of diabetes and that young age and @DISEASE$ are among the risk factors for developing diabetes.	has_symptom
+e145e99f76178c452e914898c296e2d8622c7053	The following criteria excluded patients from the study: serious renal failure (creatinine > 250 mumol/l), @PHENOTYPICFEATURE$, condition and @DISEASE$.	has_symptom
+7f9a7d8ac3597401042aecce4eb7d63f8a9c5e34	The following criteria excluded patients from the study: serious @PHENOTYPICFEATURE$ (creatinine > 250 mumol/l), @DISEASE$, condition and immunodeficiency.	false
+31f5c7db395cb7ea21bfd187919cdef26864c946	The following criteria excluded patients from the study: serious @PHENOTYPICFEATURE$ (creatinine > 250 mumol/l), hearing impairment, condition and @DISEASE$.	false
+5b321a74bbb5891e6d93255104e924790318196f	@DISEASE$-deficient zebrafish embryos develop defects similar to those found in children with FA, including shortened body length, @PHENOTYPICFEATURE$, and microophthalmia, which are due to extensive cellular apoptosis.	has_symptom
+b8c36221bcb090afc1928073c83371db0924bfe8	@PHENOTYPICFEATURE$ and findings simulating glaucoma in the @DISEASE$.	has_symptom
+dabffbe87f93134f030ba366a7792d31ffd1fd90	@DISEASE$ is characterized by distinctive facial features and varying degrees of @PHENOTYPICFEATURE$.	has_symptom
+ecca55d54086a860431a38cab6fa163d35154134	The authors report on a 6-month-old girl with @DISEASE$, admitted for acute diarrhoea and @PHENOTYPICFEATURE$ at the Mayotte hospital.	has_symptom
+2899939c4450ac11d53ac5b1f1ce68cfddf3cc35	[A case of @DISEASE$ admitted for acute diarrhea and @PHENOTYPICFEATURE$ in a French hospital in tropical area].	has_symptom
+bd8fa3015ccbbd3efb5c5ac3a33a1df0531ca0a1	Kabuki make-up syndrome (@DISEASE$) is defined as a rare syndrome with mental @PHENOTYPICFEATURE$ deficiency and multiple anomalies of unknown cause.	has_symptom
+2f8719a20d1e2a4b44d3a77b0984641a10fbc5a9	(6) OBSERVATIONS: diffident, deficit in self-confidence, and difficulty in communicating have been observed.Unlike the cases in literature, mental @PHENOTYPICFEATURE$ deficiency and learning difficulties were not found in our case with @DISEASE$.	has_symptom
+a056fbe7737047a5f4178550dad0b70a58d3f96f	@DISEASE$ (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, @PHENOTYPICFEATURE$, skeletal abnormalities, and intellectual disability.	has_symptom
+a7b600277ffe1c3587ee7e2a9e6eb9e62a0d0b33	Kabuki syndrome (KS) is a rare @DISEASE$ syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and @PHENOTYPICFEATURE$.	false
+3bebbfdc6eb8ae60bad1ca4dab40ce2b1151009c	Kabuki syndrome (KS) is a rare @DISEASE$ syndrome characterized by a unique facial appearance, growth retardation, @PHENOTYPICFEATURE$, and intellectual disability.	false
+d5620b56360c3082d03a2b5d1ea848172f1665d9	Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, @DISEASE$, @PHENOTYPICFEATURE$, and intellectual disability.	false
+40c1d24028c86b902b1e171d7f2f7e69da90d72c	Kabuki syndrome (KS) is a rare congenital anomaly @DISEASE$ characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and @PHENOTYPICFEATURE$.	false
+c785b61bf70da8c4a2091482c7ac853b32128017	@DISEASE$ (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, @PHENOTYPICFEATURE$, and intellectual disability.	false
+c80ee68a437ca59285a2bae016d16c0634529ffa	Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, @DISEASE$, skeletal abnormalities, and @PHENOTYPICFEATURE$.	false
+5d5de0da4275202a6271368b8d8cf381ddb31574	@DISEASE$ (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and @PHENOTYPICFEATURE$.	false
+eb04cea2b548d72252779fe26b693696d1d61f8f	Kabuki syndrome (KS) is a rare congenital anomaly @DISEASE$ characterized by a unique facial appearance, growth retardation, @PHENOTYPICFEATURE$, and intellectual disability.	false
+242cc9a243fc2458c3f8cf6691987fece19db691	@DISEASE$ (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal @PHENOTYPICFEATURE$, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads.	has_symptom
+b3c57fd435153b9750f5eba04bd88ff62c5a8396	@DISEASE$ (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, @PHENOTYPICFEATURE$, and unusual dermatoglyphic patterns with prominent fingertip pads.	false
+c1baf15f45d81f8faeef440707ed39c02efcf7e6	Kabuki syndrome (KS) is a multiple congenital anomaly @DISEASE$ characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, @PHENOTYPICFEATURE$, and unusual dermatoglyphic patterns with prominent fingertip pads.	false
+c869f04c5f81da2cbf58672c208bcb304f9ee03d	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal @DISEASE$, @PHENOTYPICFEATURE$, and unusual dermatoglyphic patterns with prominent fingertip pads.	false
+8614ec0d3d7ffdc5aaca27742a468dc92ad6d34d	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific @DISEASE$ features, mild to moderate mental retardation, postnatal growth delay, @PHENOTYPICFEATURE$, and unusual dermatoglyphic patterns with prominent fingertip pads.	false
+042eabd91549cdad9a7693d104ed1a6958f24f1d	Kabuki syndrome (KS) is a multiple @DISEASE$ syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, @PHENOTYPICFEATURE$, and unusual dermatoglyphic patterns with prominent fingertip pads.	false
+d19e5ffca1143298dd365a69fa4491702f2dd5e7	@DISEASE$ (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+54acf0d09a32f2b1a0ddb44c08f679714d8ba63c	@DISEASE$ (KS) is characterized by skeletal abnormalities, @PHENOTYPICFEATURE$, characteristic facial features, postnatal growth delay, and mental retardation.	false
+cfedac8b2e3a1c299cd7770883e734ce78a8ee64	Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal @DISEASE$, and @PHENOTYPICFEATURE$.	false
+028543f4e02f46928a1330eb040d40eede924955	Kabuki syndrome (KS) is characterized by @PHENOTYPICFEATURE$, short stature, characteristic facial features, postnatal @DISEASE$, and mental retardation.	false
+b0e2169fb287441dc71ab7d7765986cc94228964	@DISEASE$ (KS) is characterized by @PHENOTYPICFEATURE$, short stature, characteristic facial features, postnatal growth delay, and mental retardation.	false
+8faf9dd478ae2e4e07d0c7775ec96f20b61c2c34	@DISEASE$ (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and @PHENOTYPICFEATURE$.	false
+a5c0a99ac3f93c8fd29356bee1e1d4bea87de1f6	Kabuki syndrome (KS) is characterized by skeletal abnormalities, @PHENOTYPICFEATURE$, characteristic facial features, postnatal @DISEASE$, and mental retardation.	false
+c988135445bfd29771aa5c7bcdd4e31bd6a6fed0	@DISEASE$ is a heterogeneous condition characterized by distinctive facial features, intellectual disability, @PHENOTYPICFEATURE$, skeletal abnormalities and a range of organ malformations.	has_symptom
+65d7ad80f5c1b42e983577bc370418431ed533da	Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$ and a range of organ malformations.	false
+1800187ca36b7a1b460c1f8ba6c439ca0ab02ee2	@DISEASE$ is a heterogeneous condition characterized by distinctive facial features, intellectual disability, growth retardation, @PHENOTYPICFEATURE$ and a range of organ malformations.	false
+6f80cce7143f6e1f0469d26d1a6c424cdd428a7f	Kabuki syndrome is a heterogeneous condition characterized by distinctive facial features, @PHENOTYPICFEATURE$, @DISEASE$, skeletal abnormalities and a range of organ malformations.	false
+dec0e2237744e95df0c6396fdb83eef36d4dc20a	@DISEASE$ is a heterogeneous condition characterized by distinctive facial features, @PHENOTYPICFEATURE$, growth retardation, skeletal abnormalities and a range of organ malformations.	false
+80131ef494b38e08b9b6ce394546f47f5e9e02a5	Kabuki make-up syndrome (@DISEASE$), recognized in Japan in 1981, is characterized by mental and @PHENOTYPICFEATURE$ with specific craniofacial malformation such as lower palpebral eversion and depressed nasal tip.	has_symptom
+b519a561b1da154d471d9d324b95563496b9f8b5	Neurocutaneous melanosis or @DISEASE$ is a rare @PHENOTYPICFEATURE$ congenital disorder characterized by the presence of giant and/or multiple satellite congenital melanocytic nevi in the skin and benign melanocytic pigmentation of the leptomeninges.	has_symptom
+944198ce092665d02a0269ee04577fd7ea6249ca	@PHENOTYPICFEATURE$ in Neuro-@DISEASE$: why some patients develop seizure and others not?	has_symptom
+fb26312cef3d77481fa7d98a85e47cd148ac4cbb	Epileptic seizures in Neuro-@DISEASE$: why some patients develop @PHENOTYPICFEATURE$ and others not?	has_symptom
+0734f549891830ae4fa8ddf67afc7723f85bb41b	@DISEASE$--a not so unusual cause of @PHENOTYPICFEATURE$.	has_symptom
+597e0f779914ca7e2d659fc82e1a4141c6b45b97	A young girl with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+9e4225218f4e9facd29c32dba52aaee7688d0a42	Familial Mediterranean Fever (@DISEASE$) is a genetic disorder characterized by recurrent episodes of fever and @PHENOTYPICFEATURE$.	has_symptom
+e654f74c3853d5fc05f2ecdd08ba380cc8ebb331	@DISEASE$ (FMF) is a genetic disorder characterized by recurrent episodes of fever and @PHENOTYPICFEATURE$.	has_symptom
+21302652c2d9c5cf0dbc09dcd31e07cdce44c6de	@DISEASE$ (FMF) is a genetic disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain.	false
+e13c3921b1dbba0cf736d905dc2ff1ccdf32540f	Familial Mediterranean Fever (@DISEASE$) is a genetic disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain.	false
+03e57c132b9fbfa5842b909a1a3f06dc80eb11f1	Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+023a3e6228a0cbf08f0c36d769e7bbae4e558305	Familial Mediterranean Fever (FMF) is a @DISEASE$ characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain.	false
+77b640f7094805077c3da91102b55cd984a36545	@DISEASE$ (FMF) is a recessively inherited disorder characterized by episodes of fever with @PHENOTYPICFEATURE$, pleurisy, or arthritis.	has_symptom
+c7fcda3b2a5ad5ad335156aa9514e7a259d6b545	Familial Mediterranean fever (@DISEASE$) is a recessively inherited disorder characterized by episodes of fever with @PHENOTYPICFEATURE$, pleurisy, or arthritis.	has_symptom
+d8f7691442f283f8f33755871c2c44fe55cd237a	After ruling out common causes of recurrent @PHENOTYPICFEATURE$, @DISEASE$ (FMF) was considered as a potential diagnosis.	has_symptom
+533ee707562ab355eaeda02dd6af76b4e15641f6	After ruling out common causes of recurrent @PHENOTYPICFEATURE$, familial Mediterranean fever (@DISEASE$) was considered as a potential diagnosis.	has_symptom
+9e24694e2ee1e1fab93370c7d07f0d0ef065f866	Familial Mediterranean fever (@DISEASE$) is a recessively inherited disease which is characterized by?recurrent episodic fever, @PHENOTYPICFEATURE$, and polyserositis.	has_symptom
+0ebff2fb98234938028d6f3ddd11b764fdf99fa7	@DISEASE$ (FMF) is a recessively inherited disease which is characterized by?recurrent episodic fever, @PHENOTYPICFEATURE$, and polyserositis.	has_symptom
+cddb8c6b19e645772cb809fe84bb6fde8298d095	Case of @DISEASE$ presenting with constant @PHENOTYPICFEATURE$.	has_symptom
+c16d9d6c38834251c18c2407fcceb87a2f3babd4	Considering the history of recurrent @PHENOTYPICFEATURE$, @DISEASE$ (FMF) was considered.	has_symptom
+4a7980d6c637979dec8ac359f4b0c7c1239b5e37	Considering the history of recurrent @PHENOTYPICFEATURE$, Familial Mediterranean Fever (@DISEASE$) was considered.	has_symptom
+84e2acc23b31a3d6b5205fb30acfd8528241dffb	Familial Mediterranean fever (@DISEASE$) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and @PHENOTYPICFEATURE$, synovitis, and pleuritis.	has_symptom
+7570cec0e9b163f35cb10a9f0e099e827b29179b	@DISEASE$ (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and @PHENOTYPICFEATURE$, synovitis, and pleuritis.	has_symptom
+a0a64baa59f16b55e611ad65dc7d696c79b74db9	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory @DISEASE$, characterized by recurrent episodes of fever and @PHENOTYPICFEATURE$, synovitis, and pleuritis.	has_symptom
+84f37a69403f1d4ed1ee3dd190602ffe4b6f42c5	Familial Mediterranean fever (@DISEASE$) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain, synovitis, and pleuritis.	false
+024921038686173ebcdb6f0f054e2cfe9bf4231c	@DISEASE$ (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain, synovitis, and pleuritis.	false
+7cf9ea224949c27f1bad69dbb407301ed7c2605f	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and @DISEASE$, synovitis, and pleuritis.	false
+1cf5d5729b867817d148852564479d8cd068fa11	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain, @DISEASE$, and pleuritis.	false
+9c73537451e05488293528037c5cd5dbeaf2e217	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory @DISEASE$, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and abdominal pain, synovitis, and pleuritis.	false
+af5f5727a7b500a6a6ca51ba53a9898181cea2bb	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory @DISEASE$, characterized by recurrent episodes of fever, @PHENOTYPICFEATURE$, synovitis and pleurisy.	has_symptom
+7afa3bd01488bd925f92bf8d5a3cae914ceb82f8	Familial Mediterranean fever (@DISEASE$) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, @PHENOTYPICFEATURE$, synovitis and pleurisy.	has_symptom
+c05ad0fdf337a2d87fff1cbb0f8e4c31300369df	@DISEASE$ (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, @PHENOTYPICFEATURE$, synovitis and pleurisy.	has_symptom
+1d3917c634b0607cc3f65e029046d37528ae9acd	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$, @DISEASE$, synovitis and pleurisy.	false
+2961c35d319eea16ab02b23f029f2262989537da	@DISEASE$ (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$, abdominal pain, synovitis and pleurisy.	false
+eb37e5eba4598b185c42608e23d133cf302ea1dc	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory @DISEASE$, characterized by recurrent episodes of @PHENOTYPICFEATURE$, abdominal pain, synovitis and pleurisy.	false
+1c199495e250c60e700a13b9c0b770807f918be3	Familial Mediterranean fever (@DISEASE$) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$, abdominal pain, synovitis and pleurisy.	false
+a3b107ed045941ea0d066dd6adf2be27d8ed3ee5	Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of @PHENOTYPICFEATURE$, abdominal pain, @DISEASE$ and pleurisy.	false
+e84712a0097f8e060c0be3693c135f8ad9df6b6a	@DISEASE$ (XLAS) is caused by mutations in type IV collagen causing @PHENOTYPICFEATURE$, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males.	has_symptom
+43d349105d8e2d7c02e820b670481c7b3fcc47d7	Mutations in the ATRX gene cause a severe X-linked @PHENOTYPICFEATURE$ syndrome that is frequently associated with alpha thalassemia (@DISEASE$).	has_symptom
+0f15dc406d176ee4b7672fa612e947cede55c686	A novel form of severe, X linked @PHENOTYPICFEATURE$ associated with alpha thalassaemia (@DISEASE$) has recently been described.	has_symptom
+86a96536b8d3de15e7fa79f040b0eaf0a64f1efd	cause @DISEASE$ which is associated with severe @PHENOTYPICFEATURE$.	has_symptom
+9d75e0c38f039e504d5d98c400d61753eea174ad	The alpha-thalassemia/mental retardation syndrome, X linked, also named @DISEASE$ is a X-linked @PHENOTYPICFEATURE$ syndrome.	has_symptom
+cfdae0321eb855c0043073c587232f994b96f0de	The @DISEASE$, also named ATR-X syndrome is a X-linked @PHENOTYPICFEATURE$ syndrome.	has_symptom
+eed329d2061eeb224506e890e8190a087c790b70	He showed dysmorphic features, @PHENOTYPICFEATURE$ and epilepsy, so @DISEASE$ was considered.	has_symptom
+1e4ebb48db452ef7ae93f36f9a824e3e2b09e17a	Mutations in a putative global transcriptional regulator cause X-linked @PHENOTYPICFEATURE$ with alpha-thalassemia (@DISEASE$).	has_symptom
+031a5b7bd381d413af98295a1360287c1b5d3a18	In addition to its role in the @DISEASE$, XH2 may be a good candidate for other forms of X-linked @PHENOTYPICFEATURE$ mapping to Xq13.	has_symptom
+edce90e9b612699b2588c82a6bb429a2801c4063	Mutations in the XNP gene result in different inherited disorders, including the @DISEASE$ which is characterized by @PHENOTYPICFEATURE$ (MR) associated with alpha-thalaessemia.	has_symptom
+865a0d38cc8c561121f90599fa39bbb953c8041f	ATRX is an SWI/SNF-like chromatin remodeling protein that is mutated in several X-linked @PHENOTYPICFEATURE$ syndromes, including the @DISEASE$.	has_symptom
+006f8c6794a9bafa1f38158394a1cdffa1ef3d62	@DISEASE$ is a severe @PHENOTYPICFEATURE$ disorder caused by mutations in the ATRX gene.	has_symptom
+54f62a454664cec9d108a7e469941d40a72b5c68	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	has_symptom
+f058d396c502d823d5bdf625e780da788fe09cc1	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	false
+cf18ae61a5f4571426cbfd31608b988d6cff8cff	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+07a71ca4e1346f343eed2016e509c5a22157a854	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	false
+5ec9e43ca4862c17d458c938ff06302679d40294	GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @DISEASE$, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+26e0edeeb014cb826503a007c61860bf4858c84d	GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, @DISEASE$, muscular hypotonia, involuntary movements and @PHENOTYPICFEATURE$ that partly cannot be treated with anti-epileptic drugs.	false
+158794183be8a7e788cb20b8b64b687d83a810a8	@DISEASE$ is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+28ab487aa9819ae4983edc4fa8362eb7255d0684	@DISEASE$ in adults is associated with @PHENOTYPICFEATURE$ and absence or limited speech development.	has_symptom
+71ee7910c775f767d2ae56738854eb4e11d64a55	The neonatal phenotype of @DISEASE$ is characterized by hypoketotic @PHENOTYPICFEATURE$, hyperammonaemia, cardiomyopathy and skeletal muscle weakness culminating in early death.	has_symptom
+4dc1472760df84c3e06ee3e29f8fcd92e86143f6	Partial monosomy of the short arm of chromosome 18 (@DISEASE$) is characterized mainly by @PHENOTYPICFEATURE$, mild to moderate mental retardation and short stature.	has_symptom
+2715cebce6c2eff4982c0300712fdc5cbf69f6a0	Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by @DISEASE$, mild to moderate mental retardation and @PHENOTYPICFEATURE$.	false
+f2afaa5d3320889ca52c6303393035f924cd2593	Partial monosomy of the short arm of chromosome 18 (@DISEASE$) is characterized mainly by speech delay, mild to moderate mental retardation and @PHENOTYPICFEATURE$.	false
+1367c1790549331cd16b1f2e9e0af8d9af99aca2	An environmental factor acting on the fetus is thought to cause a neonatal syndrome characterized by marked @PHENOTYPICFEATURE$, lack of respiratory drive and feeding difficulties, in some infants born to mothers with @DISEASE$.	has_symptom
+6e68a4160aa16dc7fec6956d120b185a5972510d	None of the patients experienced any @DISEASE$ attack under TCZ treatment with the exception of 2, one of whom had less frequent attacks while the other had episodes of erysipelas-like @PHENOTYPICFEATURE$.	has_symptom
+f6f1915fe8c832d9acbe16ca9e5de3d6a4c589b2	Besides the well-known clinical features of @DISEASE$, we found lichen spinulosus-like lesions in association with hypopigmentation (n = 3) and alopecia (n = 2), infiltrated/elevated erythematous facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking tumor-stage MF (n = 1), persistent excoriations (n = 1) and @PHENOTYPICFEATURE$ facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	has_symptom
+79f754565c5b061a351af1899ec3cef73d4f6956	Besides the well-known clinical features of @DISEASE$, we found lichen spinulosus-like lesions in association with hypopigmentation (n = 3) and alopecia (n = 2), infiltrated/elevated @PHENOTYPICFEATURE$ facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking tumor-stage MF (n = 1), persistent excoriations (n = 1) and erythematous facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	has_symptom
+c8d4ed100171c1b1a2120157e305622ccdfc8398	Besides the well-known clinical features of @DISEASE$, we found lichen spinulosus-like lesions in association with @PHENOTYPICFEATURE$ (n = 3) and alopecia (n = 2), infiltrated/elevated erythematous facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking tumor-stage MF (n = 1), persistent excoriations (n = 1) and erythematous facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+2129f6cb668ed57075ad2bb7c067c70356dbc933	Besides the well-known clinical features of FMF, we found lichen spinulosus-like lesions in association with hypopigmentation (n = 3) and alopecia (n = 2), infiltrated/elevated erythematous facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking @PHENOTYPICFEATURE$-stage MF (n = 1), persistent excoriations (n = 1) and @DISEASE$ facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+a80217ba02fbb4575ec93b223c7d96e739f8d150	Besides the well-known clinical features of @DISEASE$, we found lichen spinulosus-like lesions in association with hypopigmentation (n = 3) and alopecia (n = 2), infiltrated/elevated erythematous facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking @PHENOTYPICFEATURE$-stage MF (n = 1), persistent excoriations (n = 1) and erythematous facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+e030067ce29554823177f9ac96c98df00789f48f	Besides the well-known clinical features of FMF, we found lichen spinulosus-like lesions in association with @PHENOTYPICFEATURE$ (n = 3) and alopecia (n = 2), infiltrated/elevated erythematous facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking tumor-stage MF (n = 1), persistent excoriations (n = 1) and @DISEASE$ facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+539b28064212746e486c1f7cd9c180634a75dd65	Besides the well-known clinical features of FMF, we found lichen spinulosus-like lesions in association with hypopigmentation (n = 3) and alopecia (n = 2), infiltrated/elevated @DISEASE$ facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking @PHENOTYPICFEATURE$-stage MF (n = 1), persistent excoriations (n = 1) and erythematous facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+d18aa097d02742f058e0761b58e74778fc8aa465	Besides the well-known clinical features of FMF, we found lichen spinulosus-like lesions in association with @PHENOTYPICFEATURE$ (n = 3) and alopecia (n = 2), infiltrated/elevated @DISEASE$ facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking tumor-stage MF (n = 1), persistent excoriations (n = 1) and erythematous facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+687aad1cde0c503e1e6d9db8976efb469fa09434	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, @PHENOTYPICFEATURE$, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	has_symptom
+5c191153fde36d402daf94fddd16c86d2cc12337	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, @DISEASE$, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+f8d1c4b078254d2534e2ea5711cf0bfd530ebea8	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, @PHENOTYPICFEATURE$, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+ee27fef52fe3e56111a3e7d34ae1e3a9009b0361	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+68900f76a6571a4b27e9e4ab6a55b734adbbffc7	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, @PHENOTYPICFEATURE$, @DISEASE$, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+446ba3956eeab972756df1db1e62a1b675d5a049	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of @DISEASE$ and poor survival (Auerbach, 1997).	false
+f0b9217c5f0b41830bc9fa555fd08af94a7a210a	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major @DISEASE$, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+40a570f19c8242bac0ad05c4da757200e5f3e17a	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major @DISEASE$, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, @PHENOTYPICFEATURE$, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+7d8d526cd5ded8ef5c7c2fdfb193bbe6bd88e909	Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, @PHENOTYPICFEATURE$, microcephaly, cafe-au-lait spots, early onset of @DISEASE$ and poor survival (Auerbach, 1997).	false
+19a09237d6c7d3a24d05a5274ed30a12f2dc57cf	TINU is a rare disease of unknown etiology that associates acute @DISEASE$ in a context of systemic symptoms (asthenia, @PHENOTYPICFEATURE$, fever) and inflammatory biological signs.	has_symptom
+441d5817c5eef856d3d390fd47b0db6f94057000	@DISEASE$ presents with either renal or ocular manifestations, and associated @PHENOTYPICFEATURE$.	has_symptom
+58fb19ee45c2853814f36ff34097938f7806cc0b	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight @PHENOTYPICFEATURE$, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, @DISEASE$, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	has_symptom
+19b68dfa47c6e8b9b4f4979a59992ba858008afd	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and @DISEASE$.	false
+17e79bc2b5772dfaf621ae85affe0bdabf61ff53	These disorders are: @DISEASE$ (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+2ffc102d90a07ab736fd2bbe464410de58d6214c	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic @DISEASE$ and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+6fbea2372133f1985d7e22f0d2bf6e2ce0e54283	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight @DISEASE$, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+8afe4ad542715e72f6362217bc5a181feb264dc3	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, @DISEASE$--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+2a20f0ccd760b9ad5dfb14610e0a64b7acaf5857	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (@DISEASE$, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+eb546542e52ac85568901ca48f4e0e01da153e57	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, @DISEASE$, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+8f0237735fc9d2fd368a5dc008502e7d35ec8523	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular @DISEASE$, and Johanson-Blizzard syndrome.	false
+8f9e14d63ce7a1ecc05d3fc0d365ab4de8a90d38	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital @DISEASE$ with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+3b5191809287ee6cbff1897af865bab8b7e1fff6	The various issues and difficulties involved, such as male lethality, X chromosome inactivation, and analysis of phenotypic similarities among different conditions are illustrated through discussion of three X-linked developmental disorders: @PHENOTYPICFEATURE$ with linear skin defects (MLS) syndrome, @DISEASE$, and Goltz syndrome (focal dermal hypoplasia).	has_symptom
+6f553093f88e515705d9367c0ca413076b8d9b5a	Recently ophthalmic findings such as @PHENOTYPICFEATURE$ and optic disc anomalies have been recognised in association with @DISEASE$.	has_symptom
+6f2645738ed64ad39261490dea664add896127e5	@DISEASE$ is a rare X-linked cerebro-retinal disorder characterized by agenesis or dysgenesis of the corpus callosum, seizures, and chorioretinal lacunae; @PHENOTYPICFEATURE$ or optic nerve coloboma may also be observed.	has_symptom
+50978a62c08ffa1d74ebb976a1db9df4b61ce7ba	Aicardi syndrome is a rare X-linked cerebro-retinal disorder characterized by agenesis or dysgenesis of the corpus callosum, @PHENOTYPICFEATURE$, and chorioretinal lacunae; @DISEASE$ or optic nerve coloboma may also be observed.	false
+b86b6a3118551ccef1c15293879bc490b4028f7d	@DISEASE$ is a rare X-linked cerebro-retinal disorder characterized by agenesis or dysgenesis of the corpus callosum, @PHENOTYPICFEATURE$, and chorioretinal lacunae; microphthalmia or optic nerve coloboma may also be observed.	false
+81d7d24c6e5dab82ff7364df62b21e47542d7e80	@PHENOTYPICFEATURE$ and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to @DISEASE$ gene localization.	has_symptom
+27a76e1bea91f09ea095c0421122faf49b994296	We report a 43-day-old female infant with classic features of @DISEASE$ including flexion spasms, dysgenesis of corpus callosum, @PHENOTYPICFEATURE$, characteristic EEG, and characteristic lacunar chorioretinopathy.	has_symptom
+e949eee9f9022a3e1dd8ca2609087a3cd7942b14	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, @PHENOTYPICFEATURE$, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation.	has_symptom
+6983dc343c4b15f9ab04cf3faaaa7fe536a8f977	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, @PHENOTYPICFEATURE$, electroencephalographic abnormalities, and severe mental retardation.	false
+60dccbd0b50f26e725c4dad7949e01e3f13e8a5f	This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, @PHENOTYPICFEATURE$, chorioretinopathy, @DISEASE$, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation.	false
+3481b667d2e845d129ed952ccf627a03ebf11a16	This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, @DISEASE$, @PHENOTYPICFEATURE$, electroencephalographic abnormalities, and severe mental retardation.	false
+ec789de6173492d46d3b3ef718c2c5dd6379f898	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and @PHENOTYPICFEATURE$.	false
+de733ba109a45484ee46106f08a6b004489a2a51	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, @PHENOTYPICFEATURE$, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation.	false
+8327bc4bf3a410f63d9a8ce152f335a710005783	This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, @DISEASE$, vertebral anomalies, electroencephalographic abnormalities, and @PHENOTYPICFEATURE$.	false
+bc180eb1e97e8ff7d6acdc7ac9a70e614d738996	The same inheritance pattern has been proposed for Rett syndrome, @DISEASE$ and @PHENOTYPICFEATURE$ with linear skin defects, but in these sporadic conditions, evidence of male lethality is lacking.	has_symptom
+5f6fed967f813a91c76b72b8562e89ce406c7bd3	A 5-year-old girl with @DISEASE$ and @PHENOTYPICFEATURE$ with cyst of the OD presented with progressive enlargement of the cyst causing pain.	has_symptom
+f36416edb3cd7910bb560f4c746afea4d6b5b018	The purpose of this study was to assess the occlusal characteristics of individuals with growth hormone deficiency (GHD), idiopathic @PHENOTYPICFEATURE$ (ISS), and Russell-Silver syndrome (@DISEASE$), and compare them to the means of a normal population.	has_symptom
+8fa5741be7b347dcd0a9da7997f039fd621c106e	Russell-Silver syndrome (@DISEASE$) is a form of congenital @PHENOTYPICFEATURE$ characterized by severe growth retardation and variable dysmorphic features.	has_symptom
+989a2f8c1964e4774cf8ed6b2faf7869feb56a65	Russell-Silver syndrome (@DISEASE$) is characterized by intrauterine growth retardation, @PHENOTYPICFEATURE$ without postnatal catch-up growth, and an inverted triangular face with relative macrocephaly.	has_symptom
+e42b36b3d474e497d49f5a2d5f2422cc636f81e7	These data suggest that a beneficial response to GH occurs in some patients with IUGR-associated @PHENOTYPICFEATURE$ and that little difference exists in the responses in patients with @DISEASE$/PSS compared with those in patients with unclassified IUGR.	has_symptom
+daf7d2f93c43baee3a174443a8d38818d4393371	@DISEASE$ is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with @PHENOTYPICFEATURE$ and systemic anomalies.	has_symptom
+90747bd3bde7e8dd68721175167727c4ba9a3af6	@DISEASE$ is an @PHENOTYPICFEATURE$, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies.	false
+b5409e3f9839c6cf0267f3cf5b9a21b2c93aa726	Axenfeld-Rieger syndrome is an @PHENOTYPICFEATURE$, autosomal dominantly inherited, commonly associated with @DISEASE$ and systemic anomalies.	false
+3d5b40476efd3da8d37a90e0ede2a7fa6460d820	The autosomal dominant disorders iris hypolasia (IH), iridogoniodysgenesis syndrome (IGDS) and @DISEASE$ (ARS) are characterized by maldevelopment of the anterior segment of the eye associated with an increased risk of early-onset @PHENOTYPICFEATURE$.	has_symptom
+5b7a956f4a6460c4e7313aabda494780561ea7a0	Axenfeld anomaly, Rieger anomaly, @DISEASE$, iridogoniodysgenesis anomaly, iridogoniodysgenesis syndrome, iris hypoplasia, and familial @PHENOTYPICFEATURE$ iridogoniodysplasia all have sufficient genotypic and phenotypic overlap that they should be considered one condition.	has_symptom
+0c753b8ea3355f5e3de76b369ab459d713eaf532	This is the first study from north India reporting CYP1B1 mutations in @DISEASE$ with bilateral buphthalmos and early onset @PHENOTYPICFEATURE$.	has_symptom
+e1d94ef0ba55b04c94f73c434494e75a4f4f98a4	@DISEASE$ is a hereditary form of progressive myoclonus epilepsy associated with @PHENOTYPICFEATURE$.	has_symptom
+1b825cb23ecb2bf71203eac8a6248a9b3968c4fe	In humans, LIMP-2 deficiency leads to action myoclonus-@PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	has_symptom
+90002ea7b1de8c71ffff0b64be94b7225124d520	Action myoclonus @PHENOTYPICFEATURE$ (@DISEASE$) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	has_symptom
+bf77add666639c209482865695897f5cac265c0a	Action @PHENOTYPICFEATURE$ renal failure (AMRF) @DISEASE$ is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	false
+22534a4a8e1774c34e21b7f643f2a14f7df439a0	Action @PHENOTYPICFEATURE$ @DISEASE$ (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	false
+dfcf46cf33654b6476300b4d261794812601a1de	Action @PHENOTYPICFEATURE$ renal failure (@DISEASE$) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.	false
+0514e07cd82ea3c83bdbee4caf18882967a7644d	Mutations in the SCARB2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (PME) with or without @PHENOTYPICFEATURE$, the former also being designated @DISEASE$.	has_symptom
+27aeaf46f7058788d46a9fd7577377a80af4a459	@DISEASE$ (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with @PHENOTYPICFEATURE$.	has_symptom
+6704d5368b56fa31f01e77ff28b0999437c1b058	The overall significance, history and background of the concept of X-Linked @PHENOTYPICFEATURE$ is reviewed with a special mention to the cases referenced under the term @DISEASE$.	has_symptom
+58fb29f66b043df0fa678ba5abf7f213c68aaf81	The gene encoding fatty acid CoA ligase 4 (FACL4) is mutated in families with @DISEASE$ (MRX) and is responsible for cognitive impairment in the contiguous gene syndrome ATS-MR (Alport syndrome and @PHENOTYPICFEATURE$), mapped to Xq22.3.	has_symptom
+f5e0ee304c47fb3b33e2b4730e254b9eab96e840	Fragile X syndrome (FRAXA) was diagnosed in 16 residents, X-linked @PHENOTYPICFEATURE$ with marfanoid habitus (Lujan-Fryns syndrome) in 2, and @DISEASE$ (MRX) in 4 males.	has_symptom
+161d3fd9a0ee84855c4eca4f430b43caadf00453	@DISEASE$ (MRX) is @PHENOTYPICFEATURE$ in persons of normal physical appearance who have no recognisable features apart from a characteristic pedigree.	has_symptom
+131cfe6aaa718eabb879cad7ecc30c78b081cd1a	This review summarises the new data on FRAXE associated @PHENOTYPICFEATURE$ and the FMR2 gene in the light of the recent discoveries of new genes responsible for other forms of @DISEASE$.	has_symptom
+d79d20c1825fc454153f48c798928eaed4bebc50	These conditions were subdivided into 2 categories, designated respectively "X-linked @PHENOTYPICFEATURE$ syndromes" and "@DISEASE$".	has_symptom
+ad5c2747c87a6dc6c6595cdb96f665c6dd9f266b	Agenesis of the corpus callosum, optic coloboma, intractable @PHENOTYPICFEATURE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to @DISEASE$.	has_symptom
+27c9055f8a13ed9d17537d085d5371d3ca0cc9c9	@PHENOTYPICFEATURE$, optic coloboma, intractable @DISEASE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+e3d23d2023ba8c4ce4a0121ef89dd5640be02bf1	@PHENOTYPICFEATURE$, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to @DISEASE$.	false
+98eb6015ad4669dc794430daa2657001964ff20a	@PHENOTYPICFEATURE$, @DISEASE$ coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+12c0868c48107dfc9a04c23f23fae76a8f513e56	@PHENOTYPICFEATURE$, optic @DISEASE$, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+97ed53fa6d8d858354b30c0934401ddfeb04181e	@PHENOTYPICFEATURE$ has been considered a major symptom of @DISEASE$.	has_symptom
+70d7a6a336e7ea0c4fdf4d422ba85763096d5128	If spasticity and @PHENOTYPICFEATURE$ present, it fulfills the criteria for @DISEASE$.	has_symptom
+0d805ea60b3a1c64f54d61cf847e3f7d70ec99e1	If @PHENOTYPICFEATURE$ and @DISEASE$ present, it fulfills the criteria for Laurence-Moon-Bardet-Biedl syndrome.	false
+45ff98e2987f5f9091885b0aff8a4933cecf1909	If @PHENOTYPICFEATURE$ and mental retardation present, it fulfills the criteria for @DISEASE$.	false
+5889fe8f7c0b44b7ce752ce8e4b03f6437d32f4d	She presented with typical @DISEASE$ features, including @PHENOTYPICFEATURE$ with emotional outbursts and mild obesity.	has_symptom
+4fe152a5ff0c0b5d2ef98e3267a5d0eeaf748e28	She presented with typical BBS features, including @DISEASE$ with emotional outbursts and mild @PHENOTYPICFEATURE$.	false
+bde42adbef7c3d242e1c8550d225800c40fbe3c1	She presented with typical @DISEASE$ features, including intellectual disability with emotional outbursts and mild @PHENOTYPICFEATURE$.	false
+fac1f3d0599b52d2331e43dcd201f23f5dbe5058	@DISEASE$ (BBS) includes presence of retinitis pigmentosa (RP) with obesity, @PHENOTYPICFEATURE$, polydactyly and renal abnormalities.	has_symptom
+f6e7d3e042c612dbff7473a078f30e05cf7f5de5	Bardet Biedl syndrome (@DISEASE$) includes presence of retinitis pigmentosa (RP) with obesity, @PHENOTYPICFEATURE$, polydactyly and renal abnormalities.	has_symptom
+6e8727569e9d6c8a77b0473982df39fe6a5b1f5c	Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, @DISEASE$, @PHENOTYPICFEATURE$ and renal abnormalities.	false
+8c2a2e668ae2a13ab0225da978d20d93c2bf8a49	Bardet Biedl syndrome (BBS) includes presence of @DISEASE$ (RP) with obesity, mental retardation, @PHENOTYPICFEATURE$ and renal abnormalities.	false
+22db2f908bc1092fb78064f33f6fefe80fe980ed	@DISEASE$ (BBS) includes presence of retinitis pigmentosa (RP) with @PHENOTYPICFEATURE$, mental retardation, polydactyly and renal abnormalities.	false
+8cfb086c42fe5a20fb611914c16985500f419ab9	@DISEASE$ (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, @PHENOTYPICFEATURE$ and renal abnormalities.	false
+ca59ad36a58b00558759d8486e30c961f39b9124	Bardet Biedl syndrome (@DISEASE$) includes presence of retinitis pigmentosa (RP) with @PHENOTYPICFEATURE$, mental retardation, polydactyly and renal abnormalities.	false
+29d8cb526088d33c59260eda10a6968e57e79b64	Bardet Biedl syndrome (BBS) includes presence of @DISEASE$ (RP) with @PHENOTYPICFEATURE$, mental retardation, polydactyly and renal abnormalities.	false
+c9691a97581ee284b4f945ff6f1a1b75a30e328e	Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with @PHENOTYPICFEATURE$, @DISEASE$, polydactyly and renal abnormalities.	false
+fc1e3d448fb78385b8903218e575cef60ece3d15	Bardet Biedl syndrome (@DISEASE$) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, @PHENOTYPICFEATURE$ and renal abnormalities.	false
+6920259a51f3383c85d4456065e6df6c988076b4	@DISEASE$ (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+1f67322c739ada2985f534fc37ac2cfd0624a497	Bardet-Biedl syndrome (@DISEASE$) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism.	has_symptom
+b53dd6bd604d3469e5cbf046ae385478e889fa64	Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterized with central @DISEASE$, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+a5319d9f569bec995931e878e30d7f48f431976f	@DISEASE$ (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+2b1c1f398e0bc9ee8cc8eb41ee7a983cdf61584b	Bardet-Biedl syndrome (@DISEASE$) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+d396e1ee38ec57ee2e150e4ad6ce508ccc9ed51e	Bardet-Biedl syndrome (BBS) is a multisystem genetic disorder characterized with central obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, @DISEASE$, and hypogenitalism.	false
+8dba4d53023bb024c596308d066a5342e2bbf83f	Bardet-Biedl syndrome (BBS) is a multisystem @DISEASE$ characterized with central obesity, pigmentary retinopathy, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+8e9506cf81f1a073e350a26627d448144d895b1a	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and @PHENOTYPICFEATURE$.	has_symptom
+1e83e9f7cbc672bfe6bc0684fe58e2df40b7a908	@DISEASE$ (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and @PHENOTYPICFEATURE$.	has_symptom
+fb4319eae8ad008998c7e0bdd5e7b6bbdde4917a	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, renal disease and @DISEASE$.	false
+581068118e635228f6b64a366f95a8be363dd1cd	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, renal disease and mental retardation.	false
+5bba5a8bc14b30c64212132b337923c01346e98a	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+805609d774ac2a839346e778735c255159545b8b	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by @PHENOTYPICFEATURE$, obesity, polydactyly, renal disease and mental retardation.	false
+d1d63d11778e4200a40ab9a4dba52889ef72bc29	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, renal disease and @DISEASE$.	false
+2474ab65958fd4660e509477d414c5ddd22626a4	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by @PHENOTYPICFEATURE$, obesity, polydactyly, renal disease and @DISEASE$.	false
+6071f593121267ad6b46d713651d269850704cd5	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by @PHENOTYPICFEATURE$, obesity, polydactyly, @DISEASE$ and mental retardation.	false
+320b2884b502fc7fd96053dea4e65f8b745bd033	Bardet-Biedl syndrome (@DISEASE$) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, renal disease and mental retardation.	false
+ee271b3dfc45f23537dd7432df1e75e7a2e3ecc7	@DISEASE$ (BBS) is a ciliopathy characterized by retinal degeneration, obesity, @PHENOTYPICFEATURE$, renal disease and mental retardation.	false
+c18b7bf4f97d7f91e9cdaf45dc949df5ea209a7f	Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$ and mental retardation.	false
+cd2d8bb696bf854571faf295fe8cc53df923fd19	@DISEASE$ (BBS) is a ciliopathy characterized by @PHENOTYPICFEATURE$, obesity, polydactyly, renal disease and mental retardation.	false
+659ea6ef472af2de8ef1477a25df566dc2c0d555	@DISEASE$ (BBS) is a ciliopathy characterized by retinal degeneration, @PHENOTYPICFEATURE$, polydactyly, renal disease and mental retardation.	false
+66e7a3a68c9240434d1bb04dd230e9c4c1d7ec68	Bardet-Biedl syndrome (@DISEASE$) is an autosomal-recessive disorder of @PHENOTYPICFEATURE$, obesity, retinal dystrophy, polydactyly, and hypogenitalism.	has_symptom
+a6de9c56613fb4e91a039c8222ea5a04cdcf803d	@DISEASE$ (BBS) is an autosomal-recessive disorder of @PHENOTYPICFEATURE$, obesity, retinal dystrophy, polydactyly, and hypogenitalism.	has_symptom
+36b90e6598b049b7ce71326ceaf527772d4a9513	Bardet-Biedl syndrome (@DISEASE$) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+dc8a3eeae5107fbdf150939a8a93f6de2191f00d	@DISEASE$ (BBS) is an autosomal-recessive disorder of mental retardation, @PHENOTYPICFEATURE$, retinal dystrophy, polydactyly, and hypogenitalism.	false
+36ed074502aa9ea0cec38b9a196b5fa947845a4e	Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of @DISEASE$, @PHENOTYPICFEATURE$, retinal dystrophy, polydactyly, and hypogenitalism.	false
+0b03cb8ea0346dc38a3420f33beec6be9fbf4ec4	@DISEASE$ (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+aba9100acc08c7600af47d21068792d25d668e46	Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, @DISEASE$, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+f4c1fd4e04a26860e16e6c0fadd3d3998923db95	Bardet-Biedl syndrome (@DISEASE$) is an autosomal-recessive disorder of mental retardation, @PHENOTYPICFEATURE$, retinal dystrophy, polydactyly, and hypogenitalism.	false
+c3a823d3a91f924c6f502eaeeb5c971fba5d190c	Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of @DISEASE$, obesity, retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+9eecfc34f1711860b7ebb13c45853463d9df73e5	Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, and hypogenitalism.	false
+1c2ce5d7d9169fd2ef7825b3fb796dddadba0842	@DISEASE$ (BBS) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, @PHENOTYPICFEATURE$, hypogonadism, and renal involvement.	has_symptom
+54d677f4851fbdf66206f4b738210c5e5e033c35	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by postaxial polydactyly, retinitis pigmentosa, central obesity, @PHENOTYPICFEATURE$, hypogonadism, and renal involvement.	has_symptom
+c2bd2e9cef8f94f819b00a953acb01782077d3da	The combination of @PHENOTYPICFEATURE$, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis @DISEASE$ (BBS).	has_symptom
+ab4c21a04fe7f71e1e19266558118eeb2b928c79	The combination of @PHENOTYPICFEATURE$, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (@DISEASE$).	has_symptom
+ba37336fdea16e833cd8eb7a9c7bb08c420362a7	The combination of mental retardation, @PHENOTYPICFEATURE$, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (@DISEASE$).	false
+a94ed90655ffd658b97a17928e142fdc824ac913	The combination of mental retardation, @PHENOTYPICFEATURE$, postaxial polydactyly, and bilateral @DISEASE$ were compatible with the diagnosis Bardet-Biedl syndrome (BBS).	false
+72f9b9b173fbc5c871ccf12ad9b03eb381f82e9e	The combination of @DISEASE$, @PHENOTYPICFEATURE$, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS).	false
+322f3debaa372bca5da69f756d7164e4bf54d092	The combination of mental retardation, @PHENOTYPICFEATURE$, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis @DISEASE$ (BBS).	false
+8abdbced45455d98a3c5e6dffca084fc1a6c6548	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, @PHENOTYPICFEATURE$, hypogonadism, and renal dysfunction.	has_symptom
+220255323f685de19429b4261e7286b4bf8ce7f9	@DISEASE$ (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, @PHENOTYPICFEATURE$, hypogonadism, and renal dysfunction.	has_symptom
+13fc6d092db3c144c7ab8d7649a8afba0fb39f64	DCAF17 mutations are associated with @DISEASE$, a rare disorder characterized by alopecia, hypogonadotropic hypogonadism, @PHENOTYPICFEATURE$, diabetes mellitus, and extrapyramidal movements.	has_symptom
+32142eac8629eb49b78eb43b24c16e1ab7bfbd4b	DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, @PHENOTYPICFEATURE$, @DISEASE$, diabetes mellitus, and extrapyramidal movements.	false
+7824114b58263fef5b67a4c0d1d6e78b2a1887dc	DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and extrapyramidal movements.	false
+dbc0514a1eb39c1806e76a6dc667866981e96a4b	DCAF17 mutations are associated with @DISEASE$, a rare disorder characterized by alopecia, @PHENOTYPICFEATURE$, sensorineural hearing loss, diabetes mellitus, and extrapyramidal movements.	false
+2175644f93b2b78abc156f608f16b1cde7de7115	@DISEASE$ consists of alopecia, hypogonadism, diabetes mellitus, mild mental retardation, @PHENOTYPICFEATURE$ and ECG abnormalities.	has_symptom
+89b1eada1d43db6fc03a20d9c43c6933bf477f52	@DISEASE$ (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	has_symptom
+f7769b8ab7d850cfa87a6ad40f8051ff92d93cbc	@DISEASE$ (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @PHENOTYPICFEATURE$, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+8b60fdfcf90d2c25b6988b56d8af5bcbfff07a80	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+41c6f9370b599726115fb939ec91fad5d5bdd649	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @PHENOTYPICFEATURE$, @DISEASE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+acb8a9d17cbd52f80e96896f2ba9fea431fca933	Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, @DISEASE$, diabetes mellitus, @PHENOTYPICFEATURE$, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+88988c0f9a95bb3078090acf940b2fc068446846	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, @PHENOTYPICFEATURE$, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+5bda6f920519c5743e1338b5fe06524fad1c7c6b	A novel MYO6 splice site mutation causes autosomal dominant @PHENOTYPICFEATURE$ type @DISEASE$ with a favourable outcome after cochlear implantation.	has_symptom
+0145c3c198a35ead9c7890e21064cb91b2876566	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @PHENOTYPICFEATURE$, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	has_symptom
+b52954187b25cf76ee50d7d0bcbfa83d16687820	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+3669b77102181282d25839be3d059acb7a2d42c6	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+97ed65b8e6436c23acf8f6eb13121d2a99d89884	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @DISEASE$, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+92a795e50fd5029b21ddb537de714d1b05319588	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to @DISEASE$ (MH).	false
+76cf330647eb28707cd3e653733c6f30add381ec	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+72f8f2f32221571bb97f9a39f040e253dc4580a1	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+e6a563afc14de4bd7e1f0adf0cb2b6fbfe2976ee	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of @DISEASE$ (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+a22a322d944f70489ad44acd349de5112da38b61	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @DISEASE$, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH).	false
+6edc1b0ac446f14e9f8a2d04cc8aa832eb35800c	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, @DISEASE$, @PHENOTYPICFEATURE$, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).	false
+f23792e512b2318789dc612efa912ecb231ecdf8	@DISEASE$: congenital myopathy with @PHENOTYPICFEATURE$, skeletal anomalies, and susceptibility to malignant hyperthermia.	has_symptom
+4be7c109d9f3d16a265ba9247b4651b087456ec2	@DISEASE$: congenital myopathy with cleft palate, @PHENOTYPICFEATURE$, and susceptibility to malignant hyperthermia.	false
+f5930c3f90efc870f041e0e900db23567ecc7870	Native American myopathy: congenital myopathy with cleft palate, @PHENOTYPICFEATURE$, and susceptibility to @DISEASE$.	false
+9e129eed1e201fa59547f31b4dc4b1eb249c14a2	Native American myopathy: congenital myopathy with @DISEASE$, @PHENOTYPICFEATURE$, and susceptibility to malignant hyperthermia.	false
+e8b185efdff6f7bea965cc9c07caf4d6bb283f46	Native American myopathy: @DISEASE$ with cleft palate, @PHENOTYPICFEATURE$, and susceptibility to malignant hyperthermia.	false
+66e8ffb2c4613b519a33be5a80efe9015a3bdaf7	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (micrognathia, @PHENOTYPICFEATURE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	has_symptom
+d9a82362de32523902c93d51bb79f8c6fdfaeff1	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+26114804b4ead38c5be8a0af12d28e16dd5b0b6e	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, @DISEASE$, and developmental delay.	false
+be45e133799d173407ba6766baff1dfc1cdd4cdb	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+f9e4d6f2cd54cfb0a72bfa53c2fec7493bd9e348	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, @DISEASE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+656610fb7e926644803c8c7cf709c785b8d8fbf1	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, cryptorchidism, and developmental delay.	false
+8c36cdf73d2cb3dc4f6eb7255995db2816177127	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, @DISEASE$, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+5f2135d19ce1dffaedc97d845c4e294153500f46	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (@PHENOTYPICFEATURE$, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+c4661f909732361f3213a482ea3f5a67103938a3	We describe a patient with a pattern of malformations reminiscent of @DISEASE$: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, cryptorchidism, and developmental delay.	false
+0f6053914030ee8a61ae92579e7543aa5c1a0fa4	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, @DISEASE$, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, cryptorchidism, and developmental delay.	false
+f64e05e66f023154acb12075faaf4561f7cacbb9	In addition, the differential diagnosis with other dysmorphic syndromes that can present with a similar phenotype, such as @DISEASE$, 18q deletion and @PHENOTYPICFEATURE$-microtia-clefting (HMC) syndrome, is presented.	has_symptom
+49d42de5d79db708d4d7669e59d7fa2f95c723c7	The patient had muscle hypotonia, mental retardation, @PHENOTYPICFEATURE$, lactic acidosis and @DISEASE$.	has_symptom
+929b8c0cc94e12b6712eeb30c0f22c90ed6f1789	The patient had @PHENOTYPICFEATURE$, mental retardation, seizures, lactic acidosis and @DISEASE$.	false
+76831b42fdd3ff47ea9fe761d626ba3cb5844aae	The patient had muscle hypotonia, @PHENOTYPICFEATURE$, seizures, lactic acidosis and @DISEASE$.	false
+c9b6bc91df7d9a1e8285e5453be83970debb89fe	The patient had @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, lactic acidosis and hyperalaninemia.	false
+3f55197e2660a7533f6300ca764014ca0e4d320c	The patient had muscle hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, lactic acidosis and hyperalaninemia.	false
+707aa17178da3d621851d1d297b3d838254afbdc	We report intermittent @PHENOTYPICFEATURE$, lethargy, and Cohen's syndrome in a 4-year-old girl with @DISEASE$ and a partial deficiency of beta-alanyl-alpha-ketoglutarate transaminase (AKT).	has_symptom
+eaa5d4391c67140f815f13a63d0786e9fcf3065c	@DISEASE$ associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and @PHENOTYPICFEATURE$.	has_symptom
+c58114bc609a191e5214fe0a8b47bc11438f7a3f	@PHENOTYPICFEATURE$ and @DISEASE$: a confirmed association.	has_symptom
+23b06eb2cf2794f6e488a4a7d510d921f7d0d740	Kallmann syndrome is characterized by @DISEASE$ and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+edbb8f09c17cfee831a38786845974f5c84c8c50	Cardinal features of patients with KS include @DISEASE$ and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+a560f49c4d3cade4a733d64770e60da71cdbd8ff	Kallmann's syndrome is a neuronal migration disorder characterised by @PHENOTYPICFEATURE$/hyposmia and @DISEASE$.	has_symptom
+c020df3dddccfdfe89d3bacded94f6998087689f	Kallmann's Syndrome is a heritable disorder characterized by the association of @DISEASE$ and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+d9681ccd643252b1b2ba08bfd947fbe4d4b11a63	Kallmann syndrome (KS) is defined by the association of idiopathic @DISEASE$ and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+74484a80ecd9384f724e58799dcc8f3807bc7ddc	Kallmann syndrome (KS) consists of idiopathic @DISEASE$ (IHH) and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+b59436dc481b3446982ed53e66073df580435346	@PHENOTYPICFEATURE$ predicts @DISEASE$ in CHARGE syndrome.	has_symptom
+f314c242d70cdeae04939afece877880f2bcd45f	Idiopathic @DISEASE$ (IHH) can be associated with @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+fd3e5422bd616525f124605aa7810508dc756460	Kallmann's syndrome is characterized by the association of @DISEASE$ and @PHENOTYPICFEATURE$ or hyposmia.	has_symptom
+b9f51a1d5bd01c53beea59454e146c5c00771ac7	Kallmann syndrome (KS) is a developmental disease that combines @DISEASE$ and @PHENOTYPICFEATURE$/hyposmia.	has_symptom
+cdf414c29b27711e84d390b5abd9e04eb2ed3fbe	About 15% of patients with isolated @PHENOTYPICFEATURE$ and more than 90% of patients with @DISEASE$ have microdeletions in a critical 350-kilobase region in chromosome 17p13.3	has_symptom
+5104dc91e0ba143afbe893f1e0438af4519e6bf9	In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the @DISEASE$ with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated @PHENOTYPICFEATURE$ sequence.	has_symptom
+57512b02e4b103081fb2a87107f072cfa90f589d	We describe a molecularly confirmed case of @DISEASE$, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, @PHENOTYPICFEATURE$, and early neonatal death.	has_symptom
+ca7ad610bebc36c90d1d00a49d25374834d8da17	Sporadic @DISEASE$ is most commonly caused by developmental @PHENOTYPICFEATURE$.	has_symptom
+ce10c871c8eefbc5348771a0f55898aa79de4ef4	We present a case of @DISEASE$ with atypical aspect of fundus (Punctata Albescens), associated with @PHENOTYPICFEATURE$ and Optic Disc Drusen.	has_symptom
+daefebfc54a95c32939b0a30d4094ba0c7a8c6dc	@DISEASE$ (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe @PHENOTYPICFEATURE$, blepharophimosis, and a mask-like facial appearance.	has_symptom
+df44743d039fd6d27c566eab45622b8da274595b	@DISEASE$ (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe @PHENOTYPICFEATURE$, as well as cardiac, dental and hearing abnormalities.	has_symptom
+c33677ee97eff03d70dce4ae711d8963b4735ccc	Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic @DISEASE$ features and severe intellectual disability, as well as cardiac, dental and @PHENOTYPICFEATURE$.	false
+ec0428a5723ac006bbaef101f80c3f6118cf9dd9	@DISEASE$ (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and @PHENOTYPICFEATURE$.	false
+684d792eed40c25f5c9fcd88ace24a40a22192c7	Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe @DISEASE$, as well as cardiac, dental and @PHENOTYPICFEATURE$.	false
+e6f11d6deb202a4ad074c0dcc81610898b0ac222	Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare @DISEASE$ characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and @PHENOTYPICFEATURE$.	false
+02f9012c5f37e003bca4171f27b71526323fc12e	Thus, a large proportion of patients with @DISEASE$ suffer from @PHENOTYPICFEATURE$, with both progressive hearing impairment and sudden deafness, and peripheral vestibular deficits with dizziness and vertigo.	has_symptom
+65d3f05e3016aea74db2fedf11e864c57885dd32	Thus, a large proportion of patients with @DISEASE$ suffer from sensorineural hearing loss, with both progressive hearing impairment and sudden @PHENOTYPICFEATURE$, and peripheral vestibular deficits with dizziness and vertigo.	false
+b01e765560b3e55f9f144345da151b6ad650edfc	Thus, a large proportion of patients with Fabry's disease suffer from @DISEASE$, with both progressive hearing impairment and sudden @PHENOTYPICFEATURE$, and peripheral vestibular deficits with dizziness and vertigo.	false
+5ca9360a33f1ce5e76ac1b7f43217576db9aed85	Thus, a large proportion of patients with Fabry's disease suffer from sensorineural hearing loss, with both progressive @DISEASE$ and sudden @PHENOTYPICFEATURE$, and peripheral vestibular deficits with dizziness and vertigo.	false
+b791529bf62e59cf9050873ded3f4c80753f66d5	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine @PHENOTYPICFEATURE$, microcephaly with memory impairment, ossification defects, and ocular and skeletal abnormalities, thus providing clear confirmation that specific mutations of CENPJ can cause @DISEASE$.	has_symptom
+22479289d6272be73c0de93fc672c17663be1d7a	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of @DISEASE$, including intrauterine @PHENOTYPICFEATURE$, microcephaly with memory impairment, ossification defects, and ocular and skeletal abnormalities, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.	has_symptom
+301d1819d1792f42bc9b0656e5628d02ae685ab3	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine @DISEASE$, @PHENOTYPICFEATURE$ with memory impairment, ossification defects, and ocular and skeletal abnormalities, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.	false
+1c2102a72d3ed19b21e7225fa55901bdf3fd589c	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine dwarfism, microcephaly with memory impairment, ossification defects, and ocular and @PHENOTYPICFEATURE$, thus providing clear confirmation that specific mutations of CENPJ can cause @DISEASE$.	false
+2e1fac1503a4276e13ffca5083da1667c4fc2534	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of @DISEASE$, including intrauterine dwarfism, microcephaly with memory impairment, ossification defects, and ocular and @PHENOTYPICFEATURE$, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.	false
+32802a3790f567ab452d4dee63380f63fcb5c820	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine @DISEASE$, microcephaly with memory impairment, ossification defects, and ocular and @PHENOTYPICFEATURE$, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.	false
+9b80cd859f7aa02346274d358f5aad379499348d	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of @DISEASE$, including intrauterine dwarfism, @PHENOTYPICFEATURE$ with memory impairment, ossification defects, and ocular and skeletal abnormalities, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.	false
+9992759ba725157561735c095698b0dae74d3dba	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine dwarfism, @PHENOTYPICFEATURE$ with memory impairment, ossification defects, and ocular and skeletal abnormalities, thus providing clear confirmation that specific mutations of CENPJ can cause @DISEASE$.	false
+20f4a1849c9de658f306e76cc748bb4397fc1679	@DISEASE$ is an autosomal-recessive disorder with a frequency of less than 1/10 000 births in which there are multiple malformations including @PHENOTYPICFEATURE$.	has_symptom
+d264fca829c14b241b574ccb081eea85117b3568	One child had classical @DISEASE$, a sib pair had the features of the syndrome with less @PHENOTYPICFEATURE$, and in two children the diagnosis was not confirmed.	has_symptom
+73890adb4ff4b664c4c9c86ce4f7c83bd8b4309c	@DISEASE$ is an autosomal recessive condition with @PHENOTYPICFEATURE$ and facial and neurological anomalies.	has_symptom
+f13a35ec3eaa12df6fde4c9a5b6bc295711d02c3	The @DISEASE$ or "bird-headed" dwarfism associates a @PHENOTYPICFEATURE$, mental deficiency and various malformations with characteristic facial appearance.	has_symptom
+b1505ff9b288999e6146c0fb7d36453ef94937c4	The Seckel syndrome or "bird-headed" dwarfism associates a @DISEASE$, @PHENOTYPICFEATURE$ and various malformations with characteristic facial appearance.	false
+6b0ef501a811bee2ed59313c6ffa8458ea82b990	The @DISEASE$ or "bird-headed" dwarfism associates a severe short stature, @PHENOTYPICFEATURE$ and various malformations with characteristic facial appearance.	false
+17d3e6657ce8f31ec732810c2669f71e15044c88	One patient with hypoproteinemia @DISEASE$ and diabetic remained blindness, eyeball fixation and @PHENOTYPICFEATURE$ in the left eye.	has_symptom
+4b63a298d87208df634cfe9295901c5fa0d26e97	Likely pathogenic variants in SLC17A5 results in allelic disorders of free sialic acid metabolism including (1) infantile free sialic acid storage disease with severe global developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; (2) intermediate severe Salla disease with moderate to severe global developmental delay, hypotonia, and hypomyelination with or without coarse facial features, and (3) @DISEASE$ with normal appearance, mild cognitive dysfunction, and @PHENOTYPICFEATURE$.	has_symptom
+0795ce7dda5c703b545999588c7e54d675df15ba	@DISEASE$ represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and @PHENOTYPICFEATURE$ in the lower limbs occur.	has_symptom
+57a93c4e228617b6a06324c190e11593229367ef	Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, @PHENOTYPICFEATURE$, axial hypotonia, and @DISEASE$ in the lower limbs occur.	false
+211a20deb5d77ae7903d7bcc0c05625a64746b54	@DISEASE$ represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, @PHENOTYPICFEATURE$, axial hypotonia, and spasticity in the lower limbs occur.	false
+a88eb83f115143c220a5ea3070e1d5a925f8687a	Familial hypocholesterolemia, namely @DISEASE$, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, @PHENOTYPICFEATURE$, growth failure and vitamin E deficiency, as well as other complications.	has_symptom
+8ee3e238231731003ffa309a7b94eadaafb5539f	We describe an 11month-old child with @PHENOTYPICFEATURE$, intestinal lipid malabsorption, hepatic steatosis and severe hypobetalipoproteinemia, suggesting the diagnosis of homozygous FHBL, @DISEASE$ (ABL) or chylomicron retention disease (CMRD).	has_symptom
+8ebf3220bae3471eaa49c3119393b9a758ee97a2	The second patient (HBL-96) was a 6-month-old girl suspected to have @DISEASE$, for the presence of chronic diarrhea, @PHENOTYPICFEATURE$, extremely severe hypobetalipoproteinemia, and low plasma levels of vitamin E and vitamin A. She was homozygous for a nonsense mutation (Gln513*) resulting in a short truncated apoB (apoB-11.30),	has_symptom
+d33619e9d2dfe9f70a728387cdfef3d795049202	Adult-onset Niemann-Pick type C1 disease and @DISEASE$ may have a predominantly @PHENOTYPICFEATURE$ clinical phenotype.	has_symptom
+dcba10d3cd413943f6a3e2465c1216527d9c9611	Systemic @DISEASE$ (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, erythematous @PHENOTYPICFEATURE$, pericarditis and hepatosplenomegaly.	has_symptom
+b31bdb8953e86cb0a7073b95b95c76441d1370ae	Systemic juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of @DISEASE$, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+434c72bca5ecf6fc62bb2d8ca2ca9fc45d50f11a	Systemic @DISEASE$ (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+3089d2db1c29c9865bde4cfc0cd7026a2f9f8a73	Systemic juvenile idiopathic arthritis (s-JIA) is a rare @DISEASE$ classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+74c78662c57b52c7eac8a19e746e35a61b505bbb	Systemic juvenile idiopathic arthritis (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ @DISEASE$, pericarditis and hepatosplenomegaly.	false
+0c1d6419688b4590c0fa7a79331fc2f6aeb63601	Risk factors for PCP in RTx were age 50-65 years, age > 65 years, diabetes, @DISEASE$ and @PHENOTYPICFEATURE$ kidney disease/nephrosclerosis with an IRR of 2.22 (1.14-4.31),	has_symptom
+82bfdb55d979299afdd725929d79b55cf9b52f15	In this study, we examined the relative usefulness of serum copeptin levels as a surrogate marker of vasopressin (AVP) in adult @DISEASE$ (ADPKD) by correlating it with baseline and longitudinal changes in markers of both renal function and common CVD manifestations (@PHENOTYPICFEATURE$ vascular disease, atherosclerosis and endothelial dysfunction) that accompany the progression of this disease.	has_symptom
+4aa9d980ef6282eccc9b9943e4a5f60dda26d5ea	@DISEASE$ (PKD) is a group of monogenetic conditions characterised by the progressive accumulation of multiple renal cysts and @PHENOTYPICFEATURE$.	has_symptom
+0d29343b3ee657d838a7dd7cbb0b4c23612e5d59	The @PHENOTYPICFEATURE$ young lady with renal cysts--it is not always @DISEASE$.	has_symptom
+d9278cf7476b55b8bdbbf0f5d6a3efc4f1dd17f6	The hypertensive young lady with @PHENOTYPICFEATURE$--it is not always @DISEASE$.	false
+f83cc141ca289f026f62518c0b2db5beb4100b02	The @DISEASE$ young lady with @PHENOTYPICFEATURE$--it is not always polycystic kidney disease.	false
+8322d7943135d978e4e9f34efe320421e23409c9	The major aim of this study was to investigate whether a primary endothelial defect or a vascular smooth muscle (VSM) defect was present in murine @DISEASE$ (Pkd)2 heterozygous mesenteric vessels before the development of renal failure or @PHENOTYPICFEATURE$.	has_symptom
+37026307d555159d96764f7cf8f40d5e4515583e	The major aim of this study was to investigate whether a primary endothelial defect or a vascular smooth muscle (VSM) defect was present in murine polycystic kidney disease (Pkd)2 heterozygous mesenteric vessels before the development of @PHENOTYPICFEATURE$ or @DISEASE$.	false
+4e7533939a2c804c2cac97354a139e2e4e37c81f	The major aim of this study was to investigate whether a primary endothelial defect or a vascular smooth muscle (VSM) defect was present in murine @DISEASE$ (Pkd)2 heterozygous mesenteric vessels before the development of @PHENOTYPICFEATURE$ or hypertension.	false
+b5258669e1294ca9b190494648ef018f0473768c	To emphasize the important association of @DISEASE$ and @PHENOTYPICFEATURE$ cerebral hemorrhage, a registry of 900 consecutive cases of hemorrhagic stroke was reviewed.	has_symptom
+2a7e9de7f21c4f784c65b26ae43019e522e8efb2	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with @DISEASE$ described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, @PHENOTYPICFEATURE$, muscle fiber anomalies, cardiac anomalies, hyperglycemia, and hirsutism.	has_symptom
+e57b69bab45a5e971416818b9d379755892f1848	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with @DISEASE$ described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, seizures, muscle fiber anomalies, @PHENOTYPICFEATURE$, hyperglycemia, and hirsutism.	false
+b14944535f4ec423064824b6a962c3fb605c4d58	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, @DISEASE$, muscle fiber anomalies, @PHENOTYPICFEATURE$, hyperglycemia, and hirsutism.	false
+38acfb57dde19c5f6444984a3b6dbf42f414c082	Since there is a considerable lack of well-defined clinical delineation of the few patients with microdeletions involving 7p13 with GCPS described so far, we focus on the symptoms that are not typically related to GCPS, such as moderate psychomotor retardation, seizures, muscle fiber anomalies, @PHENOTYPICFEATURE$, @DISEASE$, and hirsutism.	false
+8986368924212d26ebd1df1399416dd02b850407	A case of adult neuronal ceroid lipofuscinosis (NCL) or @DISEASE$ in a 24 year old white female who presented with phobic symptoms, behavioral changes, thought disorder and depressed mood prior to the onset of @PHENOTYPICFEATURE$ is reported.	has_symptom
+0b8fe36262a949d292931bb8d4e74043ecbfe23e	In the absence of factors known to affect CCT (Down syndrome, @DISEASE$, and aniridia), CCT is similar in eyes with pediatric @PHENOTYPICFEATURE$ and normal controls and increases after cataract surgery.	has_symptom
+d24afef6fefe011ef1e8ed1926b96ec6f36a45a7	In the absence of factors known to affect CCT (Down syndrome, @DISEASE$, and aniridia), CCT is similar in eyes with pediatric cataracts and normal controls and increases after @PHENOTYPICFEATURE$ surgery.	has_symptom
+92cc17b8e40af5d6ad5605f5ef0f6a7fe115fca8	The risk of developing vision-threatening complications such as retinal detachment and @PHENOTYPICFEATURE$ was much higher than in the normal population, but even so, the visual potential of the @DISEASE$ patients was relatively good.	has_symptom
+3fef25a63c038a8b2de57155959b2f63a3d467b5	Modern surgery for @PHENOTYPICFEATURE$ and management of its complications suggest that clear crystalline lens extraction and IOL implantation can be attempted in selected cases with @DISEASE$.	has_symptom
+f206d5b53a70b9675e808186176a05bf47f76d93	To report femtosecond laser-assisted @PHENOTYPICFEATURE$ surgeries in patients with @DISEASE$ with mild, moderate, and severe lens subluxation.	has_symptom
+fbf08eeb1938b1f0f62e01c6709b866bef04c4d6	Intraocular lenses (IOLs) can have inadequate support for placement in the capsular bag as a result of ocular trauma, metabolic or inherited conditions such as @DISEASE$ or pseudoexfoliation, or complicated @PHENOTYPICFEATURE$ surgery.	has_symptom
+d5a6b142a9924c3bba3df7c117b738f2f1bc1712	Visual function in @DISEASE$ could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, @PHENOTYPICFEATURE$, and glaucoma.	has_symptom
+a2f96e249982f42c8cf4703a94824856957bce81	The primary cases included those undergoing surgery for lens subluxation due to @DISEASE$, and secondary cases included those after surgery for congenital cataract (3 eyes) or traumatic @PHENOTYPICFEATURE$ (16 eyes).	has_symptom
+49902a27adf410569a2d91f0ca6d0ee33fab163a	The study included 17 children with ages, between 2 and 9 year old, from which 9 cases were of congenital cataract, 6 of traumatic @PHENOTYPICFEATURE$ and 2 of @DISEASE$.	has_symptom
+ef119debcd4e7ac291d2bdf29da6676709716ae7	Seven eyes had pseudoexfoliation syndrome, one eye had @DISEASE$, and another eye had a traumatic @PHENOTYPICFEATURE$; no risk factor was identified for intraocular lens dislocation in two eyes.	has_symptom
+40ac2503857ab839459ce52f5366c7bb2ceebe6b	@DISEASE$, a genetic connective tissue disorder, manifests many problems: high myopia, astigmatism, crystalline lens subluxation, and @PHENOTYPICFEATURE$.	has_symptom
+7605289bc755dccfaa76cb8ec1e87195ffceb6cf	1), @DISEASE$ (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, @PHENOTYPICFEATURE$ and dementia; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	has_symptom
+d617baec604bdb42a928aa4e8b034b5fbbccc0a5	1), @DISEASE$ (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, myoclonus and @PHENOTYPICFEATURE$; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	false
+cbbee9b263bdffd2adc643ff3a00be35c977734d	1), fatal familial insomnia (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, @DISEASE$ and @PHENOTYPICFEATURE$; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	false
+68a7705206949824872cf1605b991a21269c4157	1), fatal familial insomnia (FFI) is a rare inherited @DISEASE$ characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, myoclonus and @PHENOTYPICFEATURE$; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei.	false
+4c4f6ced0f42e002e96664099c40217b03ae1c0d	They showed mild facial dysmorphism, @PHENOTYPICFEATURE$ (platyspondyly), large epiphyses, @DISEASE$, and hallux valgus as common clinical features.	has_symptom
+fbb9205b58d130d6956ffe8c5c30afe70ded9937	They showed mild @PHENOTYPICFEATURE$, @DISEASE$ (platyspondyly), large epiphyses, metaphyseal dysplasia, and hallux valgus as common clinical features.	false
+ac774475df85aec345badcfe6e379f34ed6742d4	They showed mild @PHENOTYPICFEATURE$, flat vertebral bodies (platyspondyly), large epiphyses, @DISEASE$, and hallux valgus as common clinical features.	false
+d1ffef9901235b5f602aef6f675ab8c6f252aa88	[@DISEASE$ with cataract, @PHENOTYPICFEATURE$ and short height].	has_symptom
+2bdcb23f1e860693e876d0df1171e46237ecc59a	[Isolated TRH deficiency with @PHENOTYPICFEATURE$, @DISEASE$ and short height].	false
+6679c69067b88dd95db9faf38ee252e1aadf4dc8	[@DISEASE$ with @PHENOTYPICFEATURE$, mental retardation and short height].	false
+0ac6ca8e8dddaef3116108ead792c16f35f1efee	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by @PHENOTYPICFEATURE$ and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides.	has_symptom
+bb7f5c2bc822528fcf9ef1a2bb60bc87d850b037	Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by @DISEASE$ and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of @PHENOTYPICFEATURE$ and patches of de-pigmented skin, hair, and irides.	false
+5bdad417a797cfa31efbb773b3a62b3903a692d6	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of @PHENOTYPICFEATURE$ and patches of de-pigmented skin, hair, and irides.	false
+6311a993888cacb89cb8ab705aee393e120c8b25	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye @PHENOTYPICFEATURE$, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides.	false
+884b6475b7a683fcb73b480cc5179f9ade0b2e2e	Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by @DISEASE$ and generalized skin, hair, and eye @PHENOTYPICFEATURE$, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides.	false
+f993125870ce092640327a188a8abe3dffea7dc9	These findings may provide insight into the mechanism of melanocyte and hearing loss in human @PHENOTYPICFEATURE$-pigmentation syndromes such as WS and @DISEASE$ and illustrate differences between otic and follicular melanocytes.	has_symptom
+441fe78a3bab6311276e669b1e25ceb170e5f9db	@DISEASE$ (hypopigmentation/@PHENOTYPICFEATURE$) caused by mutation of MITF.	has_symptom
+edfdf2f7140a33d771fc77b6f94262c0dfbab896	@DISEASE$ (@PHENOTYPICFEATURE$/deafness) caused by mutation of MITF.	false
+8a5e47dad186b504caf0ae8ceae80a14ee48f23b	Tietz syndrome (@PHENOTYPICFEATURE$/@DISEASE$) caused by mutation of MITF.	false
+6e9bb02250b63ade5ea04bb127529c2758783e9f	Patients with @DISEASE$ have congenital profound @PHENOTYPICFEATURE$ and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion.	has_symptom
+090685fe69dce4d7bf20ea6e7b550ee665a0e855	Patients with Tietz syndrome have congenital profound @DISEASE$ and @PHENOTYPICFEATURE$, inherited in a fully penetrant autosomal dominant fashion.	false
+f1e61832ad6d134d50054589b63ac45be1569474	Patients with @DISEASE$ have congenital profound deafness and @PHENOTYPICFEATURE$, inherited in a fully penetrant autosomal dominant fashion.	false
+df0b1bc60d271d3284fbc8758d66374a46d281ce	The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and @DISEASE$ are characterized by profound @PHENOTYPICFEATURE$ but only partial cutaneous pigmentary abnormalities.	has_symptom
+1b32ac70541a5a402b7282da1487faf844a8ae7f	The human @PHENOTYPICFEATURE$-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and @DISEASE$ are characterized by profound deafness but only partial cutaneous pigmentary abnormalities.	has_symptom
+c491efc6013b26aa3228973ee5eafd50ae37f154	Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and @PHENOTYPICFEATURE$ syndromes Waardenburg syndrome type 2A (WS2A) and @DISEASE$ (TS).	has_symptom
+c9aadd26f0dc7eeb166b7210093680e1c5b02858	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness syndromes Waardenburg syndrome type 2A (WS2A) and @DISEASE$ (TS).	false
+79b4cf0a7b70090b6cceef2936d56811ce2b5213	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness syndromes @DISEASE$ (WS2A) and Tietz syndrome (TS).	false
+4fae071b98115421f764266c636ea5525e2cefdb	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness @DISEASE$ Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).	false
+f94a6a9768d4350fe191f7ae08ddfc24e599465d	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and @DISEASE$ syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).	false
+2d18b1f1eda8b08ea518187591bf27a866250ffa	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and @DISEASE$, autosomal dominant disorders resulting in @PHENOTYPICFEATURE$ and hypopigmentation.	has_symptom
+66f24da2cb7919b4c02a9c477808ddccd2c25d39	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and @DISEASE$, autosomal dominant disorders resulting in deafness and @PHENOTYPICFEATURE$.	false
+12fb3e1b1be60fb90de4107464177ebdfd1eeef9	In humans, MITF mutations cause @DISEASE$ (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and @PHENOTYPICFEATURE$.	false
+8fa797a3342d1487ddc82b7adfee14181fbea83e	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+511ddbb74315637c12d9e4b05aced0fe4dc70fcc	@PHENOTYPICFEATURE$ is a well-recognized and potentially fatal complication of @DISEASE$ (ALF).	has_symptom
+7ec988e2c81d4c252295921b6a9ff6851afa7115	Pathogenic variants in polynucleotide kinase 3'-phosphatase (PNKP) gene have been associated with two distinct clinical presentations: autosomal recessive @DISEASE$ (MCSZ; MIM 613402) and @PHENOTYPICFEATURE$ with oculomotor apraxia type 4 (AOA4; MIM 616267).	has_symptom
+cd52f25b2c99ecf37f31d16a76113f3a11a0f3eb	It encodes a DNA repair protein recently associated with recessive @PHENOTYPICFEATURE$ with oculomotor apraxia type 4 (AOA4) and @DISEASE$ (MCSZ).	has_symptom
+49c2116d1fea9f32297a893c0c64fea39186b8e7	The conservative dosing regimen used in this study is therapeutically effective, results in considerable interpatient variation in plasma drug and metabolite concentrations, slows the heart rate without significantly affecting other electrocardiographic parameters, and does not prevent keratopathy, @PHENOTYPICFEATURE$ or @DISEASE$ dysfunction.	has_symptom
+81cd95e1bdce8aa6ac141983a7588fa6e223a101	@PHENOTYPICFEATURE$ is the primary clinical manifestation, but in some patients, protoporphyrin accumulation in the liver may lead to fatal @DISEASE$ failure.	has_symptom
+9bcd24945a7e98bc0038a7ca7c13cf31f77c6249	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	has_symptom
+5b33fd600afd939aa67c712949c40710cbc2958a	The clinical features resembled the @DISEASE$ (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+f69764739f128573baa912c5eae74aaa8e5b3ad5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, @DISEASE$, and speech delay.	false
+911de3be62cae976c192be35e5cc0b7f7ce783ca	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+e644e64ab4b863980646a12b28470393bc17e5e5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow @DISEASE$, growth deficiency, and @PHENOTYPICFEATURE$.	false
+c34e1974962e6eee95a0930c9a15d57bb51d5d9a	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+3ca0f3752a431b8c22e724daf3948219cfce93ab	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, @DISEASE$, and speech delay.	false
+357579e10f3c80a3d1c6581658aa4474859bb6f3	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+465639f71dba67e13798411f25796be7358906cb	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow palate, growth deficiency, and speech delay.	false
+8d14e1e76261c4134c3285c2ba95e044003e7b88	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+a1a49447bb9fe965a311dcb8dc0044721c5425f5	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, @PHENOTYPICFEATURE$, high-arched narrow @DISEASE$, growth deficiency, and speech delay.	false
+7d96079158e237d0722faed7bc5dfe5b7ec4c350	The clinical features resembled the 2q33.1 microdeletion syndrome (@DISEASE$), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+74cce7e513c5676f72f9fc0c69b4eb55aba4f604	The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow @DISEASE$, growth deficiency, and speech delay.	false
+dd38d33d41563fc4707f4d3f9ed0506bb10359c8	Two had lower lip pits, a cardinal sign of VWS, but the other had a heart-shaped mass on lower lip without pits, @PHENOTYPICFEATURE$, or @DISEASE$.	has_symptom
+4cfcb5190a4f28b20f127c7fde89b3009405a528	Dental management of Rapp-Hodgkin syndrome associated with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+f28ac23b7f2e81ca22e57dce3e08a252b9d61f08	In 1968, Rapp and Hodgkin described a family (a mother and her son and daughter) with a combination of dysplasic hair, nails, @DISEASE$ and hypohidrosis associated with @PHENOTYPICFEATURE$ and hypoplasia of the maxillary.	has_symptom
+3e989b4245939e07083c4d368583951daae32104	In 1968, Rapp and Hodgkin described a family (a mother and her son and daughter) with a combination of dysplasic hair, nails, hypodontia and @PHENOTYPICFEATURE$ associated with @DISEASE$ and hypoplasia of the maxillary.	false
+7132dfc1b42c0f2fd201ca7835535fa721a9af0c	In 1968, Rapp and Hodgkin described a family (a mother and her son and daughter) with a combination of dysplasic hair, nails, @DISEASE$ and @PHENOTYPICFEATURE$ associated with oral clefting and hypoplasia of the maxillary.	false
+5d377bce17bdebe9f7eff228048a577f3f581169	An additional 465 DNA samples (93 cases with @DISEASE$ and 372 controls without family history for tooth agenesis or @PHENOTYPICFEATURE$) from Brazil were also available for this study.	has_symptom
+6dde3c5b60393321634327915eea7df27e037857	@PHENOTYPICFEATURE$ and nephrotic syndrome due to recurrent disease may develop after renal transplant in patients with focal glomerular sclerosis (@DISEASE$).	has_symptom
+13aeb253557bfcac003a7274c85dc6c56491cffd	@PHENOTYPICFEATURE$ and nephrotic syndrome due to recurrent disease may develop after renal transplant in patients with @DISEASE$ (FGS).	has_symptom
+e73d676d8dfba6c6c35357c9c9829964c17009ac	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of renal failure or @PHENOTYPICFEATURE$; a glomerular pattern similar to that reported for @DISEASE$ (HUS)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	has_symptom
+a1d4058a01fce882a967eac1994a6d57e283ae88	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of renal failure or @PHENOTYPICFEATURE$; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (@DISEASE$)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	has_symptom
+f181471bbef4657888e2218fa8d77eb95c4d769e	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or @DISEASE$; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+48855947e73fb22a69e20eb10b2efbe8ee599e27	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/thrombotic thrombocytopenic purpura (TTP) @DISEASE$ is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+4a5c8798f2cf3678b5813a2377f5584567a04972	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening @DISEASE$, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+53b9120e625246d3c2043700aa3440bc719cd8bf	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if @DISEASE$ is present: in our experience.	false
+2fcf66f8a8b8bcb8a3f8bb6568ce5cf0bd64010d	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/thrombotic thrombocytopenic purpura (@DISEASE$) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+bc6ca7ac1667577ed557b0e7094c511f23cd5928	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (@DISEASE$)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+9342e1d446df20a78acc2139a9e22f3ccace1430	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for @DISEASE$ (HUS)/thrombotic thrombocytopenic purpura (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+a28794bb598d6994ca23ace728241eed13515e1f	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of @PHENOTYPICFEATURE$ or hypertension; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/@DISEASE$ (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+25cb98f76841a03734e90d31d35004ce6935bcda	TMA comprises a spectrum of microvascular thrombosis syndromes associated with multiple pathogenetic factors, that is, typical and atypical haemolytic uraemic syndrome (@DISEASE$), thrombotic thrombocytopenic purpura (TTP), malignant @PHENOTYPICFEATURE$, drugs or systemic autoimmune diseases or antibody-mediated rejection.	has_symptom
+f1271bd2ccf21616e807a5f94cf6f5270c73e82c	TMA comprises a spectrum of microvascular thrombosis syndromes associated with multiple pathogenetic factors, that is, typical and atypical @DISEASE$ (HUS), thrombotic thrombocytopenic purpura (TTP), malignant @PHENOTYPICFEATURE$, drugs or systemic autoimmune diseases or antibody-mediated rejection.	has_symptom
+e1fb03dbad843e5ec186bbd45bc5fb59599cbef3	Among the 36 TMA patients, their clinical diagnoses of renal TMA were as followings: 2 patients combining with thrombotic thrombocytopenic purpura-@DISEASE$, 2 patients combining with anti-phospholipid syndrome, 2 patients with malignant @PHENOTYPICFEATURE$, 1 patient with scleroderma and the other 29 patients presenting with isolated renal TMA.	has_symptom
+d7e008e3b139580725328f7592e1eebe8f4bedd7	Initially elevated (42 mU/L) median C3d concentration reached normal levels from Week 2. Levels of sC5b-9 >320 ng/mL at the time of @DISEASE$ diagnosis were associated with arterial @PHENOTYPICFEATURE$, oedema and lower platelet counts, but not with the duration of dialysis.	has_symptom
+e7e7314007c46b0597f621417fa94cf0b9a42a15	Mandibulofacial dysostosis, severe lower eyelid coloboma, @PHENOTYPICFEATURE$, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of @DISEASE$?	has_symptom
+ce41789863382d843da7a72ecadc9462ddd67600	We studied dystrophin in three young girls with a sporadic @PHENOTYPICFEATURE$ of early onset, manifested by mild to severe limb weakness, calf hypertrophy, high serum creatine kinase, normal karyotype, and morphologic features in muscle consistent with @DISEASE$.	has_symptom
+eaa2b455ca43c2196b8a4c62dd48ae28bde388a4	Diseases that cause smooth muscle dysfunction include familial visceral @PHENOTYPICFEATURE$, nonfamilial visceral myopathies, collagen disease, @DISEASE$, amyloidosis, thyroid disease, and so on.	has_symptom
+adb9fab850555582cd4b1f5cfde0a1ec5db98288	Diseases that cause smooth muscle dysfunction include familial visceral myopathies, nonfamilial visceral @PHENOTYPICFEATURE$, collagen disease, @DISEASE$, amyloidosis, thyroid disease, and so on.	has_symptom
+6e8c63cf41144e935ab69b902b2ec8e4c346d41b	A targeted NGS can offer cost effective, safe and fairly rapid turnaround time, which can improve quality of care for patients with early onset @PHENOTYPICFEATURE$ and @DISEASE$; in particular, collagen VI related myopathy and congenital myasthenia syndromes.	has_symptom
+b7340cee74235cf8a0cedaec13fea02622f6763e	The @DISEASE$ (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (@PHENOTYPICFEATURE$, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies.	has_symptom
+787a6c4cdbfb2cb3b88ead107267058f9fe2beac	It was established that the efficacy of "Enterosgel" treatment was optimal in patients with intoxication syndrome due to @DISEASE$ insufficiency, cholestasis with marked skin @PHENOTYPICFEATURE$ and allergic manifestations.	has_symptom
+6f2f883adfcd681a6f39e05569f4a35cd0b23392	Shprintzen-Goldberg syndrome (@DISEASE$) is characterized by severe marfanoid habitus, @PHENOTYPICFEATURE$, camptodactyly, typical facial dysmorphism, and craniosynostosis.	has_symptom
+d190d89ff8a323e549a6b8de951ab0d7d7c936f3	Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, @DISEASE$, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+b77d5b839aa7d7bc8bb1ae6401051232549fcf83	Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and @DISEASE$.	false
+08a541cd5828f9118f32074d275ab2d326c3f4dd	Shprintzen-Goldberg syndrome (@DISEASE$) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+674a8fbbc37e7f804dd03daaa23b91530d62b5d1	@DISEASE$ (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+f52e0b2a7770517abecf070fd3ff16b142193402	The @DISEASE$ is an infrequently described malformation syndrome, mainly characterized by a profound @PHENOTYPICFEATURE$, a typical face including a midface hypoplasia, urogenital abnormalities, and minor radiographic features.	has_symptom
+03741dd656de800d477fde14849ebe5176e5a019	The Schinzel-Giedion syndrome is an infrequently described malformation syndrome, mainly characterized by a profound @DISEASE$, a typical face including a midface hypoplasia, @PHENOTYPICFEATURE$, and minor radiographic features.	false
+debb6c47a1f25d6507d845d777df480fb346187b	The Schinzel-Giedion syndrome is an infrequently described @DISEASE$, mainly characterized by a profound mental deficiency, a typical face including a midface hypoplasia, @PHENOTYPICFEATURE$, and minor radiographic features.	false
+e9014d52bc28640748b1b64a4874115a99290307	The @DISEASE$ is an infrequently described malformation syndrome, mainly characterized by a profound mental deficiency, a typical face including a midface hypoplasia, @PHENOTYPICFEATURE$, and minor radiographic features.	false
+0a8654ae9dbc54700874117157925e5fb35beda8	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	has_symptom
+071a733ff81c3fb42be4df09bdefee03944b8087	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	has_symptom
+cb1c63ecd788ce6249714107b61991227d9b6ba6	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple @DISEASE$ including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+60d28f6dd1cdfbcdcecf9be44d08aed54b38f281	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+7b5821cc8d000e0d2c2d62eb3a0cca9e59486683	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @DISEASE$, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+849edad3077d86cc0dccf819e1d0200caab0e3bd	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple @DISEASE$ including skeletal, genitourinary, renal and cardiac abnormalities.	false
+ba253fe1a90b88e061026a3bbb06675f9372b6ff	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+51afe4852a33c21e108145f646f3a0464750389c	Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe @DISEASE$, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+98f0c14959e5fdc837c1f7a413c38616083e929d	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+1cd0d59373161ffbc7ecf76da2e9309c6bdaa5e3	@DISEASE$ (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+117681542ff8ac688d85d61e29eeccf679f8bf6c	Shprintzen-Goldberg syndrome (@DISEASE$) is a rare disorder characterized by a Marfan-like habitus, @PHENOTYPICFEATURE$ and craniosynostosis.	has_symptom
+d3c4308ccf8423a687f71b88cf0bbd80d27ab98f	Craniofacial structure abnormalities, such as @PHENOTYPICFEATURE$, are one of the most common defects observed in @DISEASE$ patients, but the role of ICK in palatal development has not been studied.	has_symptom
+3f87650171add98e97449fdbf34a2faca4adc872	Ick null mouse embryos displayed @PHENOTYPICFEATURE$, hydrocephalus, polydactyly, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	has_symptom
+ed9e117732ca39d61541fcf0d03bf8e598ab23c5	Ick null mouse embryos displayed cleft palate, @PHENOTYPICFEATURE$, polydactyly, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	false
+fb6724346f172ed5af94ed82627f19318c9d4dc4	Ick null mouse embryos displayed cleft palate, hydrocephalus, polydactyly, and @PHENOTYPICFEATURE$, closely resembling @DISEASE$ phenotypes.	false
+7276813cd146cbfe619be223d2bff4465773b5df	Ick null mouse embryos displayed @DISEASE$, @PHENOTYPICFEATURE$, polydactyly, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+8030829da93ee0000542e1a44701b80fdce72b4f	Ick null mouse embryos displayed cleft palate, hydrocephalus, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling @DISEASE$ phenotypes.	false
+7397d7aaa9aad6d88b30740ef05da464159c3718	Ick null mouse embryos displayed @DISEASE$, hydrocephalus, polydactyly, and @PHENOTYPICFEATURE$, closely resembling ECO syndrome phenotypes.	false
+8523a3b52247e67e2efb9426b24fac291a4f727e	Ick null mouse embryos displayed @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+3932e2b3508bfb67b1e56642a674d0ff52cbced5	Although the vast majority of @DISEASE$ patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among @PHENOTYPICFEATURE$, ataxic patients.	has_symptom
+ede2855eef731ade950250353f761aad0ff06a71	Although the vast majority of Salla disease patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among @DISEASE$, @PHENOTYPICFEATURE$ patients.	false
+ce94ed232a2c165ba80689ccf72242e245715dc5	Although the vast majority of @DISEASE$ patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among mentally retarded, @PHENOTYPICFEATURE$ patients.	false
+a6b6ff696449e1072adc8fe8913d20abde838847	@DISEASE$ is a lysosomal storage disorder characterized by @PHENOTYPICFEATURE$ and disturbed sialic acid metabolism.	has_symptom
+0dea2151ac37e18bcaa9f0bb081a13df87890d59	Both patients showed moderate @PHENOTYPICFEATURE$, spastic ataxic syndrome, hypomyelination and cerebellar atrophy on magnetic resonance imaging (MRI), and lysosomal storage, all typical of @DISEASE$.	has_symptom
+6a868f644d792a15bfc095ad317801e360d19ad3	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+850c99cf202e62dcadc46c17edb7353199759e23	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @PHENOTYPICFEATURE$, pre- and postaxial polydactyly and severe motor and mental retardation.	has_symptom
+1fad57cfcf8e2479b82710d25a1853c05a3a6f89	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+ea64a6b7019240697752be8480efe1350807322b	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, @DISEASE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+f1064e439aa6e6d5bdebfb121c5f9d06fcf29f1d	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+5a91c3adace4fccecdacdff7454e0d48a645e3e2	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+8eb56da15643db7a3ff78119606722b6049c47c1	@DISEASE$ (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+c01c480278aea02db97db66f0c45acf6259efc51	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), @PHENOTYPICFEATURE$, @DISEASE$, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+9d122368af5b24d38bbec8e6cee1358a7aa47055	Acrocallosal syndrome (ACS), is an extremely rare disorder characterized by the absence of corpus callosum (CC), macrocephaly, @DISEASE$, pre- and postaxial polydactyly and severe motor and @PHENOTYPICFEATURE$.	false
+9ce499ba1e8d056ed8cca647f5edd6a60e0995be	Acrocallosal syndrome (@DISEASE$), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+c8137fd4b5883f15f0dd40085673af1c919ceab3	@DISEASE$ (ACS), is an extremely rare disorder characterized by the @PHENOTYPICFEATURE$ (CC), macrocephaly, hypertelorism, pre- and postaxial polydactyly and severe motor and mental retardation.	false
+ccb63eccf8b0993a3654bb4f6d9bd491f806da66	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @PHENOTYPICFEATURE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	has_symptom
+0b6d77baba067d72bfd2c90760021df7aa721973	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+41369fa20eb1833547005ac2641fee5388ecb615	Acrocallosal syndrome is a multiple @DISEASE$ disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, widely spaced eyes, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+9b97bb649814d264dd9cf597a8210e428b464b65	Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, absence or hypoplasia of the corpus callosum, and intellectual disability.	false
+68f33d1a1de85c11602ae68908d271905918a90b	@DISEASE$ is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+a771a43ce5c66e778ba5c854bdbb019c61be3311	Acrocallosal syndrome is a multiple congenital anomaly disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, @DISEASE$, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+11e7507d6faa54b6df3d402d07aca6fe56563e02	Acrocallosal syndrome is a multiple @DISEASE$ disorder characterized by postaxial and/or preaxial polydactyly, cutaneous syndactyly, macrocephaly, widely spaced eyes, absence or hypoplasia of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+c0cfbe897b8b08d4391f8c9e3086f8ca349d8c94	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe @PHENOTYPICFEATURE$ and profound psychomotor delay.	has_symptom
+483a37159270adb74467dc91c717be6128310133	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe @PHENOTYPICFEATURE$ and profound psychomotor delay.	has_symptom
+ea6b5141e0ad2e42e3c7b3b8c36d5c1a42667dfa	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+446517aac9be26c6f026964bec950c520e1ae5a4	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+6d8ad6a2d39ec7617a46b03ffa022253cf8160d5	We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe @DISEASE$ and profound psychomotor delay.	false
+e51eed8c920c8aa9dcb002fa703d500ef75d75c5	We now present a patient resembling @DISEASE$ (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+91a56a30df4e66c206efe2a1e8f5505eaa322c8e	We now present a patient resembling acrocallosal syndrome (@DISEASE$) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, @PHENOTYPICFEATURE$, dysplastic and low-set ears, severe hypertelorism and profound psychomotor delay.	false
+3a19cee4a1ceb4da48fbc22d4eacea0e5da286d6	We now present a patient resembling acrocallosal syndrome (ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, dysplastic and low-set ears, severe @DISEASE$ and profound psychomotor delay.	false
+ae0e30ff397e5f0f9fe73aad276d010dd52143e4	While @DISEASE$ is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and @PHENOTYPICFEATURE$, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	has_symptom
+880eb8f359d0ed4177b28b9b869fee8495ef17bd	While ACLS is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and hypertelorism, @DISEASE$ dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+4809e58dfdf6aea95473215894f7211e889264cb	While @DISEASE$ is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+3dc3e1bddb6fbe2e6ef2ab9a535be7a58618fc76	While ACLS is characterized by @PHENOTYPICFEATURE$, prominent forehead, depressed nasal bridge, and @DISEASE$, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis.	false
+cbefde7b60c8f4ab3b8d108e352dc0fb9d09d7c5	@DISEASE$ must be suspected in patients with unexplained psychomotor retardation associated with @PHENOTYPICFEATURE$ and/or pyramidal symptoms, and MRI findings consistent with cerebral hypomyelination, irrespective of the patient's ethnic origin.	has_symptom
+ce94ed232a2c165ba80689ccf72242e245715dc5	Although the vast majority of @DISEASE$ patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among mentally retarded, @PHENOTYPICFEATURE$ patients.	has_symptom
+3ab1e02390d31f27aba376869d427de6a66eb013	Although the vast majority of Salla disease patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among @PHENOTYPICFEATURE$, @DISEASE$ patients.	false
+3932e2b3508bfb67b1e56642a674d0ff52cbced5	Although the vast majority of @DISEASE$ patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among @PHENOTYPICFEATURE$, ataxic patients.	false
+a6882d8a2c5253d22fa1b43c902fe4acacbd40b6	@DISEASE$ is an autosomal recessive lysosomal free sialic acid storage disorder characterized by psychomotor retardation and @PHENOTYPICFEATURE$.	has_symptom
+12bd20594333a4ba5ee5a034d29dd28b69a6c55f	@DISEASE$ (SD) is a lysosomal disorder manifesting in infancy with hypotonia, nystagmus, @PHENOTYPICFEATURE$ and retarded motor development.	has_symptom
+f8714f01eee015712923b9c968a03db3b03d1ea5	The most common form of sialic acid storage disease is the slowly progressive @DISEASE$, presenting with hypotonia, @PHENOTYPICFEATURE$, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy.	has_symptom
+211a20deb5d77ae7903d7bcc0c05625a64746b54	@DISEASE$ represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, @PHENOTYPICFEATURE$, axial hypotonia, and spasticity in the lower limbs occur.	has_symptom
+0795ce7dda5c703b545999588c7e54d675df15ba	@DISEASE$ represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and @PHENOTYPICFEATURE$ in the lower limbs occur.	false
+7cc518cb1700df3e0f32b0b6baaea663436a2817	Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, @DISEASE$, axial hypotonia, and @PHENOTYPICFEATURE$ in the lower limbs occur.	false
+86ab50c1dec8c812dbceeb311d236e2db58a5eb2	Our patient, a 47-year-old woman, developed @DISEASE$ after @PHENOTYPICFEATURE$ surgery in her right eye, was misdiagnosed as pars planitis, and received steroid monotherapy for 8 months.	has_symptom
+fdc4672d6b73810ca4c0121605a59e92b7486192	Epiretinal membrane is a common complication of uveitis that is associated with patient age, @DISEASE$, posterior uveitis, panuveitis, male sex, and previous @PHENOTYPICFEATURE$ surgery.	has_symptom
+4eb0b37d03fb0c5abab50a1cfdb4d4be1bd11c6e	Patients with @DISEASE$, posterior uveitis, or panuveitis enrolled in the trial had a high burden of reduced visual acuity, @PHENOTYPICFEATURE$, macular edema, and epiretinal membrane; overall quality of life was lower than expected based on visual acuity.	has_symptom
+e66e2a3799a7c9669e8bcb72d66695420caa1bd3	Prenatal sonography failed to detect the abnormal genitalia, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d808a593da2ad0ec62b9de6f82e69e1192ac56b6	Secondary end points were the length of hospital stay and the proportion of patients with secondarily generalized seizures (@DISEASE$) during video-EEG, postsurgical @PHENOTYPICFEATURE$ outcome, and hospital cost.	has_symptom
+0bbcac7cbb6ebeef285b1b6218b82c56a5d559ca	Secondary end points were the length of hospital stay and the proportion of patients with secondarily @PHENOTYPICFEATURE$ (SGS) during video-EEG, postsurgical @DISEASE$ outcome, and hospital cost.	false
+d6f3cf994acbca829030a36d4fb0b5cb6255d407	Secondary end points were the length of hospital stay and the proportion of patients with secondarily @PHENOTYPICFEATURE$ (@DISEASE$) during video-EEG, postsurgical seizure outcome, and hospital cost.	false
+b1c96939015ee86526376f90d8799e1d011958c8	@DISEASE$ is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, @PHENOTYPICFEATURE$, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects.	has_symptom
+d9d73eef9deb1263a589801c7aba84b420727ec5	Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, genitourinary, skeletal, neurological, and cardiac defects.	false
+d830b9ad4679a070eb3152c1ffd8840dff89746e	@DISEASE$ is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, @PHENOTYPICFEATURE$, genitourinary, skeletal, neurological, and cardiac defects.	false
+02109530947a4ea27582b92b5eecfcdf970d3e13	We distributed patients in subgroups based on @PHENOTYPICFEATURE$ type (focal seizures [FS], secondarily generalized seizures [@DISEASE$], primarily generalized seizures [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	has_symptom
+f0ee5b771fdc89b3fefaa502fcef8c1d9a175e1e	We distributed patients in subgroups based on seizure type (focal seizures [FS], secondarily @PHENOTYPICFEATURE$ [@DISEASE$], primarily generalized seizures [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+26850f645f84ed2ad1f0f829f71ebfeb46382eeb	We distributed patients in subgroups based on @DISEASE$ type (focal seizures [FS], secondarily @PHENOTYPICFEATURE$ [SGS], primarily generalized seizures [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+14a32797f47be79896240bc93090fb1d8ca0ec46	We distributed patients in subgroups based on seizure type (focal seizures [FS], secondarily generalized seizures [@DISEASE$], @PHENOTYPICFEATURE$ [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+d3bbd930a26ddcae7b27e64c6384456c1beb1e28	We distributed patients in subgroups based on @DISEASE$ type (focal seizures [FS], secondarily generalized seizures [SGS], @PHENOTYPICFEATURE$ [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+a92764bea67fe0054e539a374bb834359acd48fa	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (@DISEASE$).	has_symptom
+573ab525b0eb1f5fe10c9d5e549a3fa4a9396824	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic muscle weakness, @PHENOTYPICFEATURE$, and @DISEASE$ (NARP) and maternally inherited Leigh's syndrome (MILS).	false
+ab918f6e475a2034319a5bd809644f4713609542	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic @DISEASE$, @PHENOTYPICFEATURE$, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (MILS).	false
+382ebcd57353e82cbbbb876bbd1f14371f72e4e0	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa (NARP) and maternally inherited Leigh's @DISEASE$ (MILS).	false
+2178855677c7d58ab0c01e38d4627ecb627dffe9	To contribute to the establishment of a rational clinical, neuroradiological, and molecular approach to neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa (NARP) and maternally inherited Leigh's syndrome (@DISEASE$).	false
+340beaae41cd5d807d376c63fa153b1bf97cfa79	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with @DISEASE$ and/or with neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa.	has_symptom
+3b0f0cb27290e18bc8be3115dd323b46509e3a81	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with maternally-inherited Leigh syndrome and/or with neurogenic @DISEASE$, @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+64fe1834a8586ef8f34cceac50b3c07f5b9ab9b0	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with maternally-inherited Leigh syndrome and/or with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e3ba630974700de5dc9024fd28d2931268c1c1af	We have created and analyzed the properties of a yeast model of the human mitochondrial DNA T8993C mutation that has been associated with @DISEASE$ and/or with neurogenic muscle weakness, @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+6ee92c93e5226b2bdc1996a87057d3085e3f8338	In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of @DISEASE$ (microcephaly, @PHENOTYPICFEATURE$, hypotonia).	has_symptom
+ab9a03941e7baf7bc4f2cc0e663ed1bbe4445e81	In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (@PHENOTYPICFEATURE$, @DISEASE$, hypotonia).	false
+0e371745da756ad87fd61b70d7733ad0f85983aa	In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of @DISEASE$ (@PHENOTYPICFEATURE$, short stature, hypotonia).	false
+32ae6904209c328e191ee0fbdad08f82277b6299	@DISEASE$ (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and @PHENOTYPICFEATURE$.	has_symptom
+6340f186ee0d3caa8016bcfa9254a111b5c7719a	@PHENOTYPICFEATURE$ in patients with chronic progressive external ophthalmoplegia or @DISEASE$.	has_symptom
+60cf1c980d64d666542653a8c8c93221fc3c2afb	A 10-year-old boy had short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, and @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+22e6b8f15976712a066280b2c23dab678927cc87	A 10-year-old boy had @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal @DISEASE$ degeneration, and sensorineural hearing loss (Kearns-Sayre syndrome).	false
+0bf7bd7425dd202eb6265a912890c1708274771c	A 10-year-old boy had @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, and sensorineural hearing loss (@DISEASE$).	false
+999671015a5375eb1d780417d5fa040581b0c50d	A 10-year-old boy had @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, and @DISEASE$ (Kearns-Sayre syndrome).	false
+2f949487ba59e81e273f1f4d5a1f9f3511d6a082	We performed a prospective evaluation of the MR findings of eight patients with mitochondrial myopathy (three with @DISEASE$ and five with chronic progressive external ophthalmoplegia), six of whom had central nervous system symptoms or signs (ataxia, @PHENOTYPICFEATURE$, or cognitive dysfunction).	has_symptom
+13ee6391761f5633eac65f6d87d65a54c8e2516f	We performed a prospective evaluation of the MR findings of eight patients with mitochondrial myopathy (three with Kearns-Sayre syndrome and five with chronic progressive external ophthalmoplegia), six of whom had central nervous system symptoms or signs (@PHENOTYPICFEATURE$, @DISEASE$, or cognitive dysfunction).	false
+059816f7d708c5dd68505dfe6e30a9a8d47414a4	We performed a prospective evaluation of the MR findings of eight patients with @DISEASE$ (three with Kearns-Sayre syndrome and five with chronic progressive external ophthalmoplegia), six of whom had central nervous system symptoms or signs (@PHENOTYPICFEATURE$, sensorineural hearing loss, or cognitive dysfunction).	false
+46f462f1f1ee6e82a6d26f65907ecfb56ffab4b8	We performed a prospective evaluation of the MR findings of eight patients with mitochondrial myopathy (three with @DISEASE$ and five with chronic progressive external ophthalmoplegia), six of whom had central nervous system symptoms or signs (@PHENOTYPICFEATURE$, sensorineural hearing loss, or cognitive dysfunction).	false
+9ffdf497ff5679a0723eb2bc26b877e509824443	We report a 17-year-old girl with short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, @PHENOTYPICFEATURE$, and cardiac conduction defect (@DISEASE$).	has_symptom
+fe7cd2ac4dc4c5f1209963c364cfd348a590f34a	We report a 17-year-old girl with @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, @DISEASE$, and cardiac conduction defect (Kearns-Sayre syndrome).	false
+dc6073bde5cb02928ac6cd07b6f82514f2ddf90b	We report a 17-year-old girl with @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal pigmentary degeneration, sensorineural hearing loss, and cardiac conduction defect (@DISEASE$).	false
+42b97bd1ac858aa7fcf5c6cfd1aba0689ac935d4	We report a 17-year-old girl with @PHENOTYPICFEATURE$, external ophthalmoplegia, atypical retinal @DISEASE$ degeneration, sensorineural hearing loss, and cardiac conduction defect (Kearns-Sayre syndrome).	false
+dba0da859c6164f5568b609b3991667310dcd81f	@DISEASE$ is a rare X-linked myopathy that is characterized clinically by a triad of cardiomyopathy, skeletal myopathy, and @PHENOTYPICFEATURE$.	has_symptom
+a4dac2576cbf59d552b10d78f675da09ddb3ffeb	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, @PHENOTYPICFEATURE$ and retinitis pigmentosa, as in @DISEASE$), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	has_symptom
+9210bee14cf4e7911a52d524c190f0d3e342a1bf	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and @DISEASE$, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+f4d953f2b63f6b48d53f3b0cc5e555550dd0dd32	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a @DISEASE$ (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+0e076a4e53e2ce45e8167b57e8a652f8dc89e7fd	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or @DISEASE$ (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+d0be60143476558081ad63eef7ca0756ed917479	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in @DISEASE$), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+c7e1a61513a04cf1e4327f95d6244dd2a56cd98e	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a @DISEASE$ (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+604b4b9761334fb11e10df528bdda91ab60eb11c	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, @DISEASE$, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+bcdb5ab5ca32eac8586c57b5f84ddc9cf51f5ac1	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, @DISEASE$ and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+f332b0dae288516419a33d8e6ca2d6eed556219d	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or @DISEASE$ (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+85aaadd6da07d774040cf03dfea1fa40357f0412	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, @DISEASE$ and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+38329dffadeed7e2c640d661ffd2d9ef8bbf7dc3	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (@DISEASE$, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+65c5a9cf005e5b57f4c0311d64aadf5b13a67b53	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and @DISEASE$, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+5725fe421d1640a3b521f4d0ec744958b0e2a4a1	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in @DISEASE$), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+67f5b22e03ee072493b86350785749ae74062eda	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (@DISEASE$, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+89965d0cdff14ca12fb7d239a653fa68ba68f41a	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, @DISEASE$, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+700db03be5127d56c2015eb1e59f7b5976720538	The lymphatic disorders in Noonan and @DISEASE$ are rare, but have a characteristic pattern with bilateral lower limb @PHENOTYPICFEATURE$, genital swelling with chylous reflux and frequent systemic involvement, including intestinal lymphangiectasia and chylothoraces, which may be progressive.	has_symptom
+7f35b303a8f0ef4873a7637df14500762f7825e7	The @DISEASE$ is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	has_symptom
+de7745d836d198e1e092da921504875475c49894	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+7dd4ef379651c165d2169533c2d17bcde93c83ec	The @DISEASE$ is characterized by bird-like face, micropthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+ac149b16208aaa86373136935a0bc4ac8d6fd955	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+5cbe86142c1d27a4e64835253fdb39b7ec5d071d	The @DISEASE$ is characterized by bird-like face, micropthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+fd40d51c73683c025bbe80928084b10c59cb5c78	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @PHENOTYPICFEATURE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	has_symptom
+fe154def00d2428b7bc41d101b8989c08e4d5435	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @DISEASE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+48b29579455d5288d2d5d2f2488b0acc39da8efb	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+2fe4798f0ecf728788b54e2702bb33ecfaf0cd12	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+c35582c002b61ccf14775d5278dc3d1df0a35dff	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, @DISEASE$, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+18219d66ec1df42aa1f91de561e7f23a7774a8b4	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, microphthalmia, skin atrophy, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+3dc2b75a4aa69d4052c6f966f3663262a6c88997	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, @DISEASE$, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+bb3f79ebd7925b2b9c4fd800ecd5c892e1dcd509	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, @PHENOTYPICFEATURE$, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+7593b4c19bdb82e9bf9da29fec867901bee4cba9	@DISEASE$ (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+7f24ebe449996838d3e2d5cf38bf0b8dd540e277	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, @DISEASE$, hypotrichosis, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+1c1c62ff65042954488bbc5a663ea3a145b5b634	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, microphthalmia, skin atrophy, @DISEASE$, @PHENOTYPICFEATURE$, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+86b8638238d3828e2ac09a3995ef107f2aff304c	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital @DISEASE$, microphthalmia, skin atrophy, hypotrichosis, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and @PHENOTYPICFEATURE$.	false
+d6b2e19f46df7dd467fb956b9828fb9269f0f857	Hallermann-Streiff syndrome (HSS) is a rare inherited disorder characterized by malformations of the cranium and facial bones, congenital cataracts, @PHENOTYPICFEATURE$, skin atrophy, @DISEASE$, proportionate short stature, teeth abnormalities, and a typical facial appearance with prominent forehead, small pointed nose, and micrognathia.	false
+22a79e2882af525655e095d7bf97200b643682cd	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, @PHENOTYPICFEATURE$, cutaneous atrophy and proportional small stature.	has_symptom
+2f98e33841fd9dc70a507ea9cb2c943599ac31ec	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+19b072803fc6141ed81616ae84a6471d85f15136	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+334262eb86dd8a9e3f54071119a0293cc42125b4	The @DISEASE$ is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+c9e450aed9282cb41798bba29207f6c2377d302b	The @DISEASE$ is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature.	false
+5719e8bb89aaaa715a8c5d441cdd1698c1450a82	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+8834d338dd0a0045f2d8c97e5cdd58034808a06f	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, micrognathia, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+6bf51fd3b219eceee54ae09dabe603cf7f264899	@DISEASE$ (SRPS) is manifested by short-limb dwarfism, short ribs with @PHENOTYPICFEATURE$, and polydactyly.	has_symptom
+553fce3bf9e3afa46fd68e63ac356a7404c2389b	@DISEASE$ (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and @PHENOTYPICFEATURE$.	false
+c27d0d511fda80a8fca18879a192d49e61003447	Short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9d3c5ea84b0bfc4638c3f0f69957f158d96618ec	@DISEASE$ (SRPS) is manifested by @PHENOTYPICFEATURE$, short ribs with thoracic hypoplasia, and polydactyly.	false
+0ae5e8aea2fcfe33e1d72f97cf48beea26dcf244	Short rib-polydactyly syndrome (SRPS) is manifested by @PHENOTYPICFEATURE$, short ribs with @DISEASE$, and polydactyly.	false
+55bceaef068398c2f20156e2cfe69be99b5a5644	Direct regulation of the @DISEASE$ promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and @PHENOTYPICFEATURE$ to WS2.	has_symptom
+8794b998941d3ddc77db8b86a3f8ac0b55349f69	Direct regulation of the Microphthalmia promoter by Sox10 links @DISEASE$ (WS4)-associated @PHENOTYPICFEATURE$ and deafness to WS2.	false
+1860472baa18fce87b3f573251ae143cf67fbeba	Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated @PHENOTYPICFEATURE$ and @DISEASE$ to WS2.	false
+17f85e4d73cb2a13b44b72aa3254527a206018e8	Direct regulation of the @DISEASE$ promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated @PHENOTYPICFEATURE$ and deafness to WS2.	false
+8e74086e84a2bce15022b1337ae0d0e0080c1724	@DISEASE$ is a heterogeneous, autosomal recessive disorder marked by prenatal @PHENOTYPICFEATURE$, severe microcephaly, intellectual disability, and characteristic facial features.	has_symptom
+42351b3f9d0f7ddde0e9e0162e94582cad773c4d	@DISEASE$ is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, @PHENOTYPICFEATURE$, and characteristic facial features.	false
+24d0702dddf25e5564fbcdfe205f59884234c33a	Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal @DISEASE$, severe microcephaly, @PHENOTYPICFEATURE$, and characteristic facial features.	false
+6e8cd3516f92fca17adae0154380c9de6323d9b5	Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal @DISEASE$, severe @PHENOTYPICFEATURE$, intellectual disability, and characteristic facial features.	false
+b4cfda62a0ad2b16ee84ae3c2c46feda7c15f5cf	@DISEASE$ is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe @PHENOTYPICFEATURE$, intellectual disability, and characteristic facial features.	false
+fd76752aa8b1fef6236094e58b9ddf6e8a0cd075	Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and @DISEASE$ (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe @PHENOTYPICFEATURE$, and pronounced microcephaly.	has_symptom
+28748adb985dee1f48a16437baf01de25732cff6	Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe @DISEASE$, and pronounced @PHENOTYPICFEATURE$.	false
+7e9008b7cab8eca33e555be8a5855877ca0e8353	Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by @DISEASE$, severe proportionate short stature, and pronounced @PHENOTYPICFEATURE$.	false
+c4538f1df055b0696b7c897ffeba0800ee533d01	Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and @DISEASE$ (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced @PHENOTYPICFEATURE$.	false
+b4e5455feb8266722150fdd2a8ac9fb8dcec7451	ATR deficit is known to cause @DISEASE$, characterized by severe @PHENOTYPICFEATURE$ and microcephaly.	has_symptom
+8d0567dd3246311a93f735c58186671e3db12878	ATR deficit is known to cause Seckel syndrome, characterized by severe @DISEASE$ and @PHENOTYPICFEATURE$.	false
+968b54632d148a0e74fa16e6f2e6b1db7a4808dc	ATR deficit is known to cause @DISEASE$, characterized by severe proportionate short stature and @PHENOTYPICFEATURE$.	false
+0d738062b60eff6d5d8bd383e04cbb439fcfdd95	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and @DISEASE$. Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or @PHENOTYPICFEATURE$.	has_symptom
+a392b6208abacbfd61b129617c68e6b105f0b949	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (@DISEASE$), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+8f30f2425461eaf170ab848fefa16232580462b1	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or @DISEASE$.	false
+dd78ad60efa87d2f0bf1a948ea34325cca10c713	COMP mutations have been reported in a mild form of @DISEASE$ (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+db2f64873fdbda81a1422bbc608a60c292d906c0	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as @DISEASE$ Fairbank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+30913d94f069812e04c6ff0132e7f9baa76ea970	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and @DISEASE$. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+8adef9835a3dc8838ebd70ea97f0f7396687b6ce	Latterly, she developed neurological deficit, @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+6cbd74a673c5d1a3cca574029d4352c57964f538	Eleven patients had various kinds of @DISEASE$, seven patients had idiopathic @PHENOTYPICFEATURE$ (IIH) and three patients had normal pressure hydrocephalus (NPH).	has_symptom
+458e57e010bb68743a32d1be61416b0d936dfdc0	Eleven patients had various kinds of hydrocephalus, seven patients had idiopathic @DISEASE$ (IIH) and three patients had @PHENOTYPICFEATURE$ (NPH).	false
+493abad31781bc4631da1c232bab63275604ae48	Eleven patients had various kinds of @DISEASE$, seven patients had idiopathic intracranial hypertension (IIH) and three patients had @PHENOTYPICFEATURE$ (NPH).	false
+b4fc9158270878688c83dcc2e9798829b7c49b53	A review of the literature revealed 19 cases with marked hypertension and @PHENOTYPICFEATURE$, resulting from mineralocorticoid excess produced by @DISEASE$.	has_symptom
+8dcbb13521cee898f7de06fc9b275d95c9293dda	We present three siblings with a precise onset of fetal @PHENOTYPICFEATURE$-like activity who had severe @DISEASE$ (OPCH) and degeneration.	has_symptom
+bc172a10d3865864224ca10bd003cd75cf66f4a0	@DISEASE$ (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood @PHENOTYPICFEATURE$.	has_symptom
+77594edd5a8b6a819544abaee525a9256a52c2e4	Both familial exudative vitreoretinopathy (FEVR) and @DISEASE$ (ND) are hereditary retinal disorders which can cause severe visual impairment and @PHENOTYPICFEATURE$ at a young age.	has_symptom
+3ac59d38dee75983a8c3b8b390bf59122355ab1b	A candidate gene for @DISEASE$, an X-linked disorder characterized by @PHENOTYPICFEATURE$, deafness and mental disturbances, was recently isolated and found to contain microdeletions in numerous patients.	has_symptom
+1a534a32d1dc14468f34bd5108f52bd4a1355656	A candidate gene for @DISEASE$, an X-linked disorder characterized by blindness, @PHENOTYPICFEATURE$ and mental disturbances, was recently isolated and found to contain microdeletions in numerous patients.	false
+28b9ecea74b53eeeaff28844454474a81c27cf9a	A candidate gene for Norrie disease, an X-linked disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$ and mental disturbances, was recently isolated and found to contain microdeletions in numerous patients.	false
+bc09ad977ece3c904188b88a7ff829ac0c46635b	@DISEASE$ is an X-linked recessive syndrome of @PHENOTYPICFEATURE$, deafness, and mental retardation.	has_symptom
+3344f8229a69790201766c1b632993564c3c52d5	Norrie disease is an X-linked recessive @DISEASE$ of blindness, deafness, and @PHENOTYPICFEATURE$.	false
+9dc8531ef92f258d14b6015cf14e63c88d4b6cc3	Norrie disease is an X-linked recessive syndrome of @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+fd07a04749d7996a339aa48989946f7f1d69d82e	Norrie disease is an X-linked recessive syndrome of @DISEASE$, deafness, and @PHENOTYPICFEATURE$.	false
+123463ba7d5a2c8e302fa1e40c940938c3bbe1dc	@DISEASE$ is an X-linked recessive syndrome of blindness, deafness, and @PHENOTYPICFEATURE$.	false
+29bdab8169700af83e74b5ccc3cc6c2e4889c9fc	@DISEASE$ is an X-linked recessive syndrome of blindness, @PHENOTYPICFEATURE$, and mental retardation.	false
+591c3352f8f584079ddb79d68fd7960c7bad93c3	Norrie disease is an X-linked recessive @DISEASE$ of blindness, @PHENOTYPICFEATURE$, and mental retardation.	false
+5d9c2f7b047864b90d85913650a2cbf536496a2a	A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial @DISEASE$: bilateral @PHENOTYPICFEATURE$ and leucocoria without other deficits.	has_symptom
+b4180694fa3c26b5a33da4dfaaac8dfc19299fa4	The X-lined gene for @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, deafness and mental retardation has been cloned recently.	has_symptom
+6f012895ad5c6814c01d42fb91558cc334342310	The X-lined gene for @DISEASE$, which is characterized by blindness, deafness and @PHENOTYPICFEATURE$ has been cloned recently.	false
+a5c220ace089a443b268a3364370c24ae8f91348	The X-lined gene for Norrie disease, which is characterized by @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation has been cloned recently.	false
+a3e5e9ec2a5d36b3fd778d3054f1fc9bc5516c78	The X-lined gene for @DISEASE$, which is characterized by blindness, @PHENOTYPICFEATURE$ and mental retardation has been cloned recently.	false
+d967f01e32b49f198adef0a44dbda39b19e84d3c	The X-lined gene for Norrie disease, which is characterized by @DISEASE$, deafness and @PHENOTYPICFEATURE$ has been cloned recently.	false
+6bf6118a6237dfaf8ec3f0f2fb01d7c5eb85ad41	@DISEASE$ (CHS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function.	has_symptom
+e63af2d337e3a26fb2ce79c2c6effd860741c04c	Chediak-Higashi syndrome (@DISEASE$) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function.	has_symptom
+281ef4beafee50a5d10f9ee140646c362dac4da2	@DISEASE$ (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous @PHENOTYPICFEATURE$ and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function.	false
+ef889465ab176fe45c497f6682655c94f1cd1957	Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by @DISEASE$ or oculocutaneous @PHENOTYPICFEATURE$ and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function.	false
+bdaaac7b04831590b0179001763f5e251d7cdfd2	Chediak-Higashi syndrome (@DISEASE$) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous @PHENOTYPICFEATURE$ and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function.	false
+5df5046ac7d25f067183e7cdb5831b6092e88ca2	Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous @PHENOTYPICFEATURE$ and severe immunologic deficiency with @DISEASE$ and lack of natural killer (NK) cell function.	false
+7d1e6773dfb4ca849c37112d7a21331fbe8d7e27	The @DISEASE$: formation of giant melanosomes and the basis of @PHENOTYPICFEATURE$.	has_symptom
+f7b2db8fe46072b190f9ea117b5fc29a9e616aed	The CHS cattle were found to be the most ocularly @PHENOTYPICFEATURE$ species, whereas @DISEASE$ mouse eyes contained considerably more melanin than those of the other species.	has_symptom
+95f2bfe833e1874e3fec505f5e75dfaf96dc141b	The @DISEASE$ cattle were found to be the most ocularly @PHENOTYPICFEATURE$ species, whereas CHS mouse eyes contained considerably more melanin than those of the other species.	has_symptom
+749e04d36e45bc9ad1bf95118e3d8291b646a998	Patients with @DISEASE$ exhibit @PHENOTYPICFEATURE$, eyes and hair, prolonged bleeding times, easy bruisability, recurrent infections, abnormal NK cell function and peripheral neuropathy.	has_symptom
+2c601098046838315efbc70bac6abe2a6ae85dc4	Patients with @DISEASE$ exhibit hypopigmentation of the skin, eyes and hair, prolonged bleeding times, easy bruisability, recurrent infections, abnormal NK cell function and @PHENOTYPICFEATURE$.	false
+bb4e7fd9eb6fc1deb5893db5121e10b2281a7d7a	Patients with CHS exhibit @DISEASE$, eyes and hair, prolonged bleeding times, easy bruisability, recurrent infections, abnormal NK cell function and @PHENOTYPICFEATURE$.	false
+198e3ab63f6e420507cfc61684b595128755e194	Mixed hyperpigmentation and @PHENOTYPICFEATURE$ of iris and choroid in @DISEASE$.	has_symptom
+329abd76c6141bec4b8a464d99178d6890793874	Chediak-Higashi syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities.	has_symptom
+9586fd24132820189de1b0120aaaf0c515a3bd77	@DISEASE$ (CHS) is a rare, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities.	has_symptom
+f0733e37cdbe1c6d06a1e511d766ca94ab886e9f	Chediak-Higashi syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and @PHENOTYPICFEATURE$.	false
+5004b1b35c62f526d6c7002a6512bed5e728c4ee	Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by @DISEASE$, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and @PHENOTYPICFEATURE$.	false
+2ad5b4ba2c1e639646130ad442b113896eb22da8	@DISEASE$ (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and @PHENOTYPICFEATURE$.	false
+32257ce881602d8f2f350033b11f4687d44e793e	Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with @DISEASE$ and lack of natural killer (NK) cells, a bleeding tendency and @PHENOTYPICFEATURE$.	false
+1a233f944cb3f5d43ba3a1090ef14c8ab2e25fec	In the @DISEASE$, an anomalous @PHENOTYPICFEATURE$ is associated with large lysosomal granules in the blood leukocytes.	has_symptom
+e2ebf3173ced34d785855356511bcb30788c9e3d	@DISEASE$ is a rare autosomal-recessive syndrome characterised by @PHENOTYPICFEATURE$, severe immune deficiency, a bleeding tendency and progressive neurological dysfunction.	has_symptom
+b3fb3eec511a62545d4ae7e1c9e66b275871151b	Chediak-Higashi syndrome (@DISEASE$) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, @PHENOTYPICFEATURE$, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase.	has_symptom
+414dbe68d3b619577ebbf07e53ee25cfc3f33f8e	@DISEASE$ (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, @PHENOTYPICFEATURE$, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase.	has_symptom
+bc1b6dae1192cdab28bed986b906dd9cb5f56e9d	Fusion of premelanosomes with lysosomes and resultant destruction of the premelanosomes probably is a major cause of the ocular @PHENOTYPICFEATURE$ of @DISEASE$.	has_symptom
+c0619830f4c1a11ab3c35ed85151cfd08badc609	Prenatal alcohol exposure, which is associated with macrostructural brain abnormalities, neurocognitive deficits, and @PHENOTYPICFEATURE$, is characterized as @DISEASE$ (FAS) in severe cases.	has_symptom
+eac25b4521868b0a4fc50382b544767420d44ceb	The @DISEASE$ is not a single entity but represents the most severe form of a spectrum of disorders, including distinctive craniofacial alterations, stunted growth and @PHENOTYPICFEATURE$, caused by complex gene-environment interactions.	has_symptom
+147742fbe962701f34ecdd9ac0a6487b4a0a864f	Of 223 children evaluated in a multidisciplinary child-development program in Portland, Oregon, 188 required long-term follow-up because of neurodevelopmental and/or @PHENOTYPICFEATURE$; 153 had been polydrug-exposed in utero and 35 were born with @DISEASE$ (FAS).	has_symptom
+386e4de561687900f7d2e49ba451bfdf039dfb24	We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, @DISEASE$, @PHENOTYPICFEATURE$, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	has_symptom
+1ede5ee69a85af7018eb1e07f49d3a8faac5e4f4	We report a @PHENOTYPICFEATURE$, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, costovertebral dysplasia, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with @DISEASE$.	false
+26fcc5d772b725e5db423b17cf481b2d243b1361	We report a @PHENOTYPICFEATURE$, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, costovertebral dysplasia, @DISEASE$, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	false
+277ec89601c9679975647d38ee253febdc66bb80	We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, @PHENOTYPICFEATURE$, costovertebral dysplasia, @DISEASE$, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	false
+2b36480ee579bfac3def51c1c65de6c741c6f895	We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, @PHENOTYPICFEATURE$, costovertebral dysplasia, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with @DISEASE$.	false
+b909f27175056ee32c838a6c7111a1a22bd8f963	We report a @PHENOTYPICFEATURE$, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, @DISEASE$, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	false
+0dece5be40336215be4ad0c48c55e81882ed39f8	We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	false
+36bf16a390c20659f2b66e2c34801fc598d40ed1	Patients with a deficiency of 3-oxo-delta4-steroid 5beta-reductase and acute hepatic failure exhibited a significantly higher percentage of 3-oxo-delta4 bile acids in total bile acids in urine than the healthy controls or other patient groups, including those with neonatal @PHENOTYPICFEATURE$ or @DISEASE$ (p<0.0001).	has_symptom
+e80be478a397b82f361491c77d14915c22be7474	@DISEASE$ (BA) is a severe neonatal @PHENOTYPICFEATURE$ disease that is caused by obstruction of extra bile ducts.	has_symptom
+ee03b61370e7b86cdbb2f1af93aa0df73cd052cb	Infants with Alagille syndrome (AGS) frequently develop neonatal @PHENOTYPICFEATURE$, and some AGS infants who suspected of biliary atresia subsequently undergo the Kasai operation with the diagnosis of @DISEASE$.	has_symptom
+505f69483d8b044825eb14c30fac028ee5321f98	@DISEASE$ is a common cause of neonatal @PHENOTYPICFEATURE$ and affected infants need surgery before 60 days of life for better prognosis.	has_symptom
+c7f09b582ac50709313adfdb83a5398d337aa321	@DISEASE$ (BA) is one of the most frequent causes of neonatal @PHENOTYPICFEATURE$.	has_symptom
+f5b3a727425c893c233fc7d21efc13085c5623dc	@DISEASE$ (BA) is the most common cause of neonatal @PHENOTYPICFEATURE$.	has_symptom
+2eb45f3d7e4625a733420af91eb140c1f6895a51	@DISEASE$ with syncope secondary to @PHENOTYPICFEATURE$.	has_symptom
+32578b973261550da8d474043155284ca0cbb26c	@DISEASE$ due to an epidermoid @PHENOTYPICFEATURE$ in the cerebellopontine angle.	has_symptom
+01e81391455e961082130df4c3c5fdbd695680ce	Three patients underwent neurosurgical procedures in the lateral position for left facial/@DISEASE$, for jugular foramen @PHENOTYPICFEATURE$, and for a petroclival meningioma, respectively.	has_symptom
+368e0917a8984f44feed020ca784e5ec6a0b6b9d	Therefore, this syndrome differs from @DISEASE$- asystole syndrome in the presence of @PHENOTYPICFEATURE$ and in the absence of neuralgia and initiating factors.(ABSTRACT	has_symptom
+f5c3248f74f5bc0fd667a221d6a99daaf322bbfd	[Syncope associated with @DISEASE$ and parapharyngeal @PHENOTYPICFEATURE$].	has_symptom
+6c1cd1340cde1781a2ca2abe1a723210837853d8	Patients consisted of 4 who had idiopathic trigeminal neuralgia with microvascular decompression, 1 with @DISEASE$ who also had microvascular decompression of the left glossopharyngeal nerve, and 5 patients with different @PHENOTYPICFEATURE$, specifically, Meckel's cave meningioma, two epidermoid cysts of the cerebello-pontine angle, an acoustic neurinoma and a trigeminal neurinoma.	has_symptom
+ca578e3109091029337bb2afd3377f93a1030219	This is a very rare case of @DISEASE$ alone due to an epidermoid @PHENOTYPICFEATURE$.	has_symptom
+3c06174f095188e6c2ee295438513ab046f23aa5	@DISEASE$ (PTHS) is a genetic neurodevelopmental disorder associated with @PHENOTYPICFEATURE$.	has_symptom
+85056070d6e66f5277f13cdde9538ad6b6cc2a1f	@DISEASE$: @PHENOTYPICFEATURE$, psychomotor and developmental delays with facial dysmorphism.	has_symptom
+9163e1313fa529cd9edef1de7676a2a1921e53f4	@DISEASE$: Mental retardation, psychomotor and developmental delays with @PHENOTYPICFEATURE$.	false
+3efcf1565f032b703daf533ca2b65f1c6aa586b6	Pitt-Hopkins syndrome: @DISEASE$, psychomotor and developmental delays with @PHENOTYPICFEATURE$.	false
+2d33037ab00fbe03402545d771e82d82752f258f	The diagnosis of @DISEASE$, an underdiagnosed cause of @PHENOTYPICFEATURE$, was based on clinical and genetic findings.	has_symptom
+fb051680620dfabe64c7b4725526a523f0c21d45	@DISEASE$ is a rarely reported syndrome of so-far-unknown etiology characterized by @PHENOTYPICFEATURE$, wide mouth, and intermittent hyperventilation.	has_symptom
+9a78d0b5abf51bc826f882b658071afaa17eef20	Haploinsufficiency of TCF4 causes syndromal @PHENOTYPICFEATURE$ with intermittent hyperventilation (@DISEASE$).	has_symptom
+bff538d2afa2b044c8e34498a66da9d1367eef49	@DISEASE$ (PTHS) is characterized by severe @PHENOTYPICFEATURE$, typical facial gestalt and additional features, such as breathing anomalies.	has_symptom
+4deae79517f001055c31772ad765f46f0b5d0d21	@DISEASE$ is a rare dysmorphic @PHENOTYPICFEATURE$ syndrome marked by daytime spells of overbreathing interrupted by apnoea.	has_symptom
+b389f841e981e059a199545d6746533f9bdd24f4	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hyperventilation, and dysmorphic features due to TCF4 mutations.	has_symptom
+c4bb0cf9255bd43533859c1b76d26ce6679af5c8	deletions and loss-of-function point mutations cause @DISEASE$, a developmental disorder associated with severe @PHENOTYPICFEATURE$.	has_symptom
+4859c8a5a94b5009808bfdd065d2bce6433d4d0d	@PHENOTYPICFEATURE$, "coarse" face, and hyperbreathing: confirmation of the @DISEASE$.	has_symptom
+ad23ec4e9a4f7481f46a62a8ed4a60e530aa34fd	@DISEASE$ (DMD) is a progressive muscle-wasting disease that causes respiratory and @PHENOTYPICFEATURE$.	has_symptom
+7713538f966c65a4350057e7c613760994a3f74f	Duchenne muscular dystrophy (@DISEASE$) is a progressive muscle-wasting disease that causes respiratory and @PHENOTYPICFEATURE$.	has_symptom
+698f8873d58495a7f2be8bf1eb3551239e7edea9	@DISEASE$ patients die prematurely due to respiratory and @PHENOTYPICFEATURE$.	has_symptom
+54ddadb1208f9208717864c5808f0b1f29e5f33c	Respiratory failure and @PHENOTYPICFEATURE$ are inevitable complications in Duchenne muscular dystrophy (@DISEASE$).	has_symptom
+304ca4807ee35a1ad4bcb949f41c5442b5d8bddb	Respiratory failure and @PHENOTYPICFEATURE$ are inevitable complications in @DISEASE$ (DMD).	has_symptom
+7646ae57ff860734b6817140012b09e5bd0d6c9a	In @DISEASE$ (DMD), progressive accumulation of cardiac fibrosis promotes @PHENOTYPICFEATURE$.	has_symptom
+b0b5600f60ead35ab05a2a2d046ddc56f4d8e98a	In Duchenne muscular dystrophy (@DISEASE$), progressive accumulation of cardiac fibrosis promotes @PHENOTYPICFEATURE$.	has_symptom
+d3c19335339aa71455687527088fd635f0c117fe	Nearly universal cardiomyopathy in @DISEASE$ (DMD) contributes to @PHENOTYPICFEATURE$ and death.	has_symptom
+356c4e7330fa0f982beda4da7fb59a1680bec3e7	Nearly universal cardiomyopathy in Duchenne muscular dystrophy (@DISEASE$) contributes to @PHENOTYPICFEATURE$ and death.	has_symptom
+eb893ce166692336e281b7221debfd3b7eac49f0	@PHENOTYPICFEATURE$ is a major cause of mortality in patients with Duchenne muscular dystrophy (@DISEASE$).	has_symptom
+54bf5de79f2da7cd88d86c2f400ab2445358a824	@PHENOTYPICFEATURE$ is a major cause of mortality in patients with @DISEASE$ (DMD).	has_symptom
+b1ec3463b744559b0dd8202fedc2bd9c5bf54fa9	A current approach to @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+21e6f6514209097e932a3374f5768d8d26c54e07	Which place for ivabradine in @DISEASE$ with @PHENOTYPICFEATURE$?	has_symptom
+c35f8c185ae41ae3e7530a9aaba26ae14a2c00c0	Role of telomere dysfunction in @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+c57f3cad30f77020a7c6958e28bc8ac7d39051b3	Intermittent inotrope infusion for end stage @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+409f22c3c5a55a3ae0d5a1e5c5b12e4c28270b4b	[Molecular basis of @PHENOTYPICFEATURE$ and @DISEASE$].	has_symptom
+5db4cf513a48bc97fb2c1680712e45ab0ce92402	[Hypocalcemic @DISEASE$: rare cause of @PHENOTYPICFEATURE$].	has_symptom
+038a21ea1c4cfd495935c861813ffed779040a88	Idiopathic @DISEASE$ among Swedish patients with @PHENOTYPICFEATURE$.	has_symptom
+d72eee9c0e8f0ad35c9045df5132ec9d5356d1fc	This caused @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+3c2d980b40695e28e6a52db9e2097ccd8ab08f6d	Molecular profiling of @DISEASE$ that progresses to @PHENOTYPICFEATURE$.	has_symptom
+be7a35929f86a8f1e3f9b09fef00c8666ba45911	@DISEASE$ and @PHENOTYPICFEATURE$ in children.	has_symptom
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+2830eda0061307273adacb0b486f55bc272b285b	@DISEASE$ (DCM) causing @PHENOTYPICFEATURE$.	has_symptom
+3f9cc29d7f4167579aea9a8f8605ca22cc3dc325	Pacing for patients with @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+90651cd873abca5f45df23ad5b8d0aae244ceb5d	@DISEASE$ and severe @PHENOTYPICFEATURE$.	has_symptom
+6de323211ff769337edfed5252862f115604e9e4	Cutaneous disorders include epidermolysis bullosa simplex, @PHENOTYPICFEATURE$, epidermolytic ichthyosis and @DISEASE$.	has_symptom
+c6a24e95e6fb5a39641aaabfa43c1e2da7307e9b	@DISEASE$ is characterized by symmetrical nail dystrophy, @PHENOTYPICFEATURE$, oral leukokeratosis, and follicular hyperkeratosis.	has_symptom
+8c0109c946f54e8dbeb071597cf4751d83e9a0cf	@DISEASE$ (PC) is a rare hereditary disease, mainly characterized by a painful @PHENOTYPICFEATURE$, thickened nails, cysts and white lesions of the oral mucosa.	has_symptom
+345d670417710762a42d19d7898e11cc824b7bd7	@DISEASE$ is a distinct hereditary disorder of keratinization, in which dystrophy of all nails is associated with @PHENOTYPICFEATURE$ and other hyperkeratoses.	has_symptom
+e7d2d923f8d540effb35473a8ea9797fb127808e	Mutations altering the coding sequence of KRT16 cause @DISEASE$ (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, oral leukokeratosis, and @PHENOTYPICFEATURE$ (PPK).	has_symptom
+4b0da6a186aa34239aa9167f93d3b9941035f498	@PHENOTYPICFEATURE$ is a hallmark of @DISEASE$ (PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK).	has_symptom
+bbce31f01c2cad0ea03bdd763c7c1d8ac06e308a	@DISEASE$ (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, @PHENOTYPICFEATURE$ and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.	has_symptom
+96043a09e6394e79d062236130ccecf68d6f7bd8	@DISEASE$ (PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16 or KRT17), which can lead to hypertrophic nail dystrophy and @PHENOTYPICFEATURE$, among other manifestations.	has_symptom
+cba317c549d4e590874e32ebd9951320760a72fb	@DISEASE$ (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, @PHENOTYPICFEATURE$, and plantar pain.	has_symptom
+3a50a6126b4efe3890e15c1464d1fba37fee84af	@PHENOTYPICFEATURE$ (PPK) are debilitating lesions that arise in individuals with @DISEASE$ (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators.	has_symptom
+1e42655e51d701e5798f4b82572bf591f41ddb5f	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @PHENOTYPICFEATURE$, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	has_symptom
+13a8bc3cdf23f63dee297d91595f2c7f87fb7a39	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+0bfd56412b8477b79668414cb4d43497d64f6277	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @DISEASE$, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+2d30a8db17d4e01e4f094836e60a87288374176b	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the @DISEASE$.	false
+379c0eb86400aeb52334803c4d105309f3e867b3	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and @DISEASE$, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+a52b56a484526ce90ac967e9f5110e4140e9f569	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+08c5b59a8dcd58cc2d10e21f5942a843f8bc7f5a	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+d8c2e17c334ae671caa7092fb9e5a741082ce7b4	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+24d816e1a34cbceb4dced7292018a75da59d138e	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+7aa39f22259d8d1163e77385478c506d34479bff	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+f5fac16694fbd159bd1b4885859b3480b507d236	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+d406f75a5b9f4a2bfc5455e82b3e6d69eed6bdcc	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	has_symptom
+61eefa58be4dcdcd2e6029346d75c3efc5b74c24	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+e9a92a24550bb19a594b52356f24e251fcb0945d	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+90985062e2b8b4f786b6d17bc7b7d5a997b34bf9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+1e2c52ada80423443cba1e892cfa601e0ffba813	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @DISEASE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+9873632e398abd141322a322f251fe7c25c06855	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+de804cddbe9165c72f2d322e31cb1ebb4e876797	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+e3118126acde0778dd8b54b87e3aa92116eac1c9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+1dad9cb25b31132bf9440be5c795b0907467debb	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+7d2c6c21c72f359a79626bcf2d86e6ec82c7bf85	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+a3b0d85bc5790234771acb3345a75d8dce2974b8	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @DISEASE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+732ba4bf23ec1247f586877095d5941a24bce7cc	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis @DISEASE$.	false
+ce1065eb6c5442bcfd6322ac1bdd652c1d29ab30	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+98fa80e33fdb8a8f34d1a4545449691ce3ab9987	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis @DISEASE$.	false
+0270da8d26f87c3b01666f5320ac64a2febb1110	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+71088bba0c222fc4b31c02061a84bd323997420b	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+07ccc7610ef29d0e459a2395435aba0a7c2034a5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+dde014310642b30e47109c1812badbd6b6e75bea	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @DISEASE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+aea26d0fcaa56844fe68313b5ccd9501bdbc419c	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis @DISEASE$.	false
+decd7f4ef63bdd92b4070287f5e5cd03ed9503d7	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+141637e4ced113f0b3b8f2d504a6c3a250a677a2	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+5e24c1a997d5ff4cf52ae953ba7d669fd8a4fdd5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+4d2ada7ad08fb2bad3f40e84419de6c1d09c4154	@DISEASE$, the most common cause of childhood @PHENOTYPICFEATURE$, increases the risks for portal hypertension and gastrointestinal bleeding.	has_symptom
+ac81b7576dcdc6fb90226f1825c12b7a3e36aacb	To determine the zonal distribution of alcohol dehydrogenase in normal and cirrhotic human livers, we measured activities of this enzyme by quantitative cytochemical analysis along the liver cell plate in liver specimens from 10 normal organ donors and from 7 children with extrahepatic @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+025ebc3d6a650756adfcd375bddc67caaad4010b	We gave metoprolol to 15 children, age 8.6 +/- 1.3 years (range 2.5 to 15 years), with idiopathic dilated cardiomyopathy (n = 9), anthracycline cardiomyopathy (n = 3), and @DISEASE$ @PHENOTYPICFEATURE$, postmyocarditis cardiomyopathy, and post-surgical cardiomyopathy (n = 1 each).	has_symptom
+e3d7fad73d45c94767797a3430c019a5c83e5b36	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and @PHENOTYPICFEATURE$, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	has_symptom
+ea65bf349782324db7d5425c012c55ed4dd96f48	Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and @DISEASE$, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and @PHENOTYPICFEATURE$.	false
+f1057d835e4c243e483815983f0933f385edcb58	Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and @DISEASE$, @PHENOTYPICFEATURE$/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+209b64d04257d833e04100aa87f8fa13dc08b384	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/@PHENOTYPICFEATURE$, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+44670dc6d9f90cebec30012e4ac4a4a7f4e0ce14	Prader-Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and @DISEASE$, hypogenitalism/@PHENOTYPICFEATURE$, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+dedb3d4d635701227684610baf2f12cd27f12346	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and @PHENOTYPICFEATURE$.	false
+c6e30583e8509b9fa4fdcbb23feede7bfb9576ac	@DISEASE$ (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, @PHENOTYPICFEATURE$/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.	false
+344a18bba08fd4b5efcd10c2f347027a8036ac86	@DISEASE$ (PWS) is a multigene disorder associated with neonatal @PHENOTYPICFEATURE$, developmental delay and endocrine abnormalities suggestive of hypothalamic dysfunction.	has_symptom
+6b3135ce6cd52d2f06d7664d569702ef4acd8a86	People with @DISEASE$ exhibit infantile hypotonia and @PHENOTYPICFEATURE$, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	has_symptom
+71d21e3d9da78b2ec1ce6372e80c96c59eec3307	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset @PHENOTYPICFEATURE$, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+68fdf8f3584cac2903192dbd79f734c91fcd52cb	People with Prader-Willi syndrome exhibit infantile hypotonia and @DISEASE$, genital hypoplasia, childhood-onset @PHENOTYPICFEATURE$, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+f2926a0926c8c152bf2332e3c0d0f225305184e1	People with Prader-Willi syndrome exhibit infantile hypotonia and @DISEASE$, genital hypoplasia, childhood-onset obesity, @PHENOTYPICFEATURE$ and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+7568721840323d9c3908acfb8edfb311c3cd554f	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, @PHENOTYPICFEATURE$ and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+52c035a5a84287bdf39e15ba61bd9c4235f3e4b4	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and @PHENOTYPICFEATURE$, hypogonadism, short stature, and characteristic dysmorphology.	false
+f31c78a50478b097eecf365c56ff38e067747ae9	People with Prader-Willi syndrome exhibit infantile hypotonia and @DISEASE$, genital hypoplasia, childhood-onset obesity, mental deficiency and @PHENOTYPICFEATURE$, hypogonadism, short stature, and characteristic dysmorphology.	false
+1a34130f80a20554fa13f869c5d5d7e03cf3d93e	People with Prader-Willi syndrome exhibit infantile hypotonia and @DISEASE$, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, @PHENOTYPICFEATURE$, and characteristic dysmorphology.	false
+af909f6326f3f5a5347cd99efdc9f3e95683cfea	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset @PHENOTYPICFEATURE$, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+0ce456e89ae6a2326d508f03272efe41d4f53c45	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, @PHENOTYPICFEATURE$, and characteristic dysmorphology.	false
+d022cc1cc74dc3fb3a2e6599e29225d6ce9d84cf	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and @PHENOTYPICFEATURE$, hypogonadism, short stature, and characteristic dysmorphology.	false
+e27f8b7be69567d7772f59b07f158c20a5c018de	People with Prader-Willi syndrome @DISEASE$ infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, @PHENOTYPICFEATURE$ and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology.	false
+df1e7a4989d9182e5bbaaa813adbce2525580c66	People with @DISEASE$ exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, @PHENOTYPICFEATURE$, and characteristic dysmorphology.	false
+658fa2a27e75fcef97c27d2705340d1c657b0a82	However, our patient did not have the severe hypotonia, early @PHENOTYPICFEATURE$, or genital abnormalities seen in classical @DISEASE$.	has_symptom
+9682c238173a30d38e94cd312a8571670314679f	However, our patient did not have the severe hypotonia, early failure to thrive, or @PHENOTYPICFEATURE$ seen in classical @DISEASE$.	false
+8b9d34bbe51729a5a98da2a05388d34da5dc63a9	However, our patient did not have the severe hypotonia, early @DISEASE$, or @PHENOTYPICFEATURE$ seen in classical Prader-Willi syndrome.	false
+e494fea2ed6892d92c927cc03c9d13569605fe62	@DISEASE$ (PWS) is a complex multisystem disorder because of errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor suckling, feeding problems and @PHENOTYPICFEATURE$ during infancy, growth and other hormone deficiency, childhood-onset hyperphagia, and subsequent obesity.	has_symptom
+8fbca749e6b4f0b9c11cd6d19f7d4f0a28c5f53e	Prader-Willi syndrome (PWS) is a complex multisystem disorder because of errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor suckling, feeding problems and @DISEASE$ during infancy, growth and other hormone deficiency, childhood-onset hyperphagia, and subsequent @PHENOTYPICFEATURE$.	false
+75d759694b00220e03213543823b448de42b7205	@DISEASE$ (PWS) is a complex multisystem disorder because of errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor suckling, feeding problems and failure to thrive during infancy, growth and other hormone deficiency, childhood-onset hyperphagia, and subsequent @PHENOTYPICFEATURE$.	false
+076169e296e6d45126f32cdd7ab81b505f950d6f	@DISEASE$ (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and @PHENOTYPICFEATURE$, childhood obesity, short stature, and hypogonadism.	has_symptom
+5517c69ee1ff0bc76d2838bf6a3896883397ab8d	@DISEASE$ (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+69d1d950113e08269e0f12b9c1c3a48d658d5ac0	Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and @DISEASE$, childhood obesity, @PHENOTYPICFEATURE$, and hypogonadism.	false
+c60f68b1b6d492e7d1d5d344d3161bddaccbbcad	Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+52e041d96a187ce6559059b732943c639ba1ffff	Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and @DISEASE$, childhood @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+8ea13340257e907be41282c4fdae6b581701382f	@DISEASE$ (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood @PHENOTYPICFEATURE$, short stature, and hypogonadism.	false
+7ba4923050c09af93ef2516ac18c2ba5d53999e3	Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+864804f6492c183d62cefca22b7d1c5c183cb7a3	Mutant animals present phenotypic characteristics of @DISEASE$ (PWS) including a @PHENOTYPICFEATURE$, decreased somatic growth, neonatal muscular hypotonia, and reduced food consumption followed by post-weaning hyperphagia.	has_symptom
+c3a2dfa856cf787777553a254ec190352ca92cd0	Mutant animals present phenotypic characteristics of Prader-Willi syndrome (PWS) including a @DISEASE$, decreased somatic growth, neonatal @PHENOTYPICFEATURE$, and reduced food consumption followed by post-weaning hyperphagia.	false
+38a16bd236101fdcd8127160c33685070613eac2	Mutant animals present phenotypic characteristics of @DISEASE$ (PWS) including a failure to thrive, decreased somatic growth, neonatal @PHENOTYPICFEATURE$, and reduced food consumption followed by post-weaning hyperphagia.	false
+cbd18c3793bf1c1527d22f8ff7521b84196cbb20	Loss of paternal gene expression at the imprinted domain on proximal human chromosome 15 causes @DISEASE$ (PWS), a complex multiple-anomaly disorder involving variable mental retardation, hyperphasia leading to obesity and infantile hypotonia with @PHENOTYPICFEATURE$.	has_symptom
+c4ca9b86ae102c0a2cbce5be049cd7f2896a025b	Loss of paternal gene expression at the imprinted domain on proximal human chromosome 15 causes @DISEASE$ (PWS), a complex multiple-anomaly disorder involving variable @PHENOTYPICFEATURE$, hyperphasia leading to obesity and infantile hypotonia with failure to thrive.	false
+54998119f2463a36003bfaa8eacd1ca7f32005eb	Loss of paternal gene expression at the imprinted domain on proximal human chromosome 15 causes Prader-Willi syndrome (PWS), a complex multiple-anomaly disorder involving variable mental retardation, hyperphasia leading to @PHENOTYPICFEATURE$ and infantile hypotonia with @DISEASE$.	false
+e8299e4fa9dd7820573254443b73dbbd60d1f0c8	Loss of paternal gene expression at the imprinted domain on proximal human chromosome 15 causes Prader-Willi syndrome (PWS), a complex multiple-anomaly disorder involving variable @PHENOTYPICFEATURE$, hyperphasia leading to obesity and infantile hypotonia with @DISEASE$.	false
+b99e48802cc234b9570ced9839bc464b2ae1f0d8	Loss of paternal gene expression at the imprinted domain on proximal human chromosome 15 causes @DISEASE$ (PWS), a complex multiple-anomaly disorder involving variable mental retardation, hyperphasia leading to @PHENOTYPICFEATURE$ and infantile hypotonia with failure to thrive.	false
+2f00e5caad41f0aaba99890da02d55c259636eff	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	has_symptom
+2c5b7003c61f3a86927222ecd450c56fd3352fd7	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, failure to thrive, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+93e49de55d92b4e133210fef878cec3599ba1590	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, mental retardation, and @PHENOTYPICFEATURE$.	false
+5c6e6514f8b8010fc0fa92baadcb0064544dec94	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @DISEASE$, short stature, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+5139116b19db4bfd1f7a156909360d0dbd3cbc76	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+07d12129f2b5c3ed22184eb417b07c6c3a3af8bc	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @DISEASE$, short stature, @PHENOTYPICFEATURE$, mental retardation, and hypogonadotropic hypogonadism.	false
+44f1fe5403c4eb23dccaa828eb4be323dba97fc5	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, @PHENOTYPICFEATURE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+78d2371697fd32cb6123d6fe214013250d895387	@DISEASE$ (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, failure to thrive, short stature, obesity, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+eeb8ef1798fcc7926f56669ea380ba3fae2338f3	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @DISEASE$, short stature, obesity, mental retardation, and @PHENOTYPICFEATURE$.	false
+d1cb82e7bf75e693bf98e2e46d1aeb167f21d094	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, @PHENOTYPICFEATURE$, @DISEASE$, short stature, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+3e549e35efd51725263b51e82056156a9a2a6162	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @DISEASE$, @PHENOTYPICFEATURE$, obesity, mental retardation, and hypogonadotropic hypogonadism.	false
+dfbdc56100f256f6734c43cf4521774bea8a220e	The @DISEASE$ consists of infantile hypotonia, @PHENOTYPICFEATURE$, hypogonadism and developmental delay.	has_symptom
+f25f091eebfe4ee2988fb315e17d0ef5c023fd3c	The Prader-Willi syndrome consists of infantile hypotonia, @DISEASE$, @PHENOTYPICFEATURE$ and developmental delay.	false
+5d22a5fd29998ad83a9e658fea21aaab22b69401	The @DISEASE$ consists of infantile hypotonia, failure to thrive, @PHENOTYPICFEATURE$ and developmental delay.	false
+2fd8af893ae26bf15960f6bef2abd6c3d8b25c87	Inherited factor XI (FXI) deficiency, also called @DISEASE$, is an uncommon autosomal recessive disorder, which is associated with a variable @PHENOTYPICFEATURE$ that usually manifests after trauma or surgery.	has_symptom
+095000cc8616454194011049631bd1a682644ee9	@DISEASE$ is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia.	has_symptom
+7db7b62e5cfb2cc788a51275c62aa22525f55652	Stromme syndrome.@DISEASE$.Apple peel syndrome with microcephaly and ocular anomalies.Ciliopathy phenotype.Primary @PHENOTYPICFEATURE$ and intellectual disability.OMIM# of the disease 243605.Name of the analysed genes or DNA/chromosome segments CENPF.OMIM# of the gene(s) 600236.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in CENPF genes in diagnostic, prenatal settings, and for risk assessment in relatives.	has_symptom
+ee966b53256c57372508e5b0f36c2954b48c2559	Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.@DISEASE$.Ciliopathy phenotype.Primary @PHENOTYPICFEATURE$ and intellectual disability.OMIM# of the disease 243605.Name of the analysed genes or DNA/chromosome segments CENPF.OMIM# of the gene(s) 600236.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in CENPF genes in diagnostic, prenatal settings, and for risk assessment in relatives.	has_symptom
+6311a993888cacb89cb8ab705aee393e120c8b25	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye @PHENOTYPICFEATURE$, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides.	has_symptom
+0ac6ca8e8dddaef3116108ead792c16f35f1efee	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by @PHENOTYPICFEATURE$ and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides.	false
+5bdad417a797cfa31efbb773b3a62b3903a692d6	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of @PHENOTYPICFEATURE$ and patches of de-pigmented skin, hair, and irides.	false
+ad3e8b3ba2aabb3239de01d3216269aec05c52fa	Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by @PHENOTYPICFEATURE$ and generalized skin, hair, and eye @DISEASE$, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides.	false
+3d5bb6d02a00663072c7c8eaca58ebf278b30e88	Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye @DISEASE$, while Waardenburg syndrome type 2A typically includes variable degrees of @PHENOTYPICFEATURE$ and patches of de-pigmented skin, hair, and irides.	false
+26439818840cb0e575695482299e6843b0ad918f	A notable relationship has been described between non-truncating mutations of its basic domain and @DISEASE$, which is characterized by albinoid-like @PHENOTYPICFEATURE$ and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss.	has_symptom
+edfdf2f7140a33d771fc77b6f94262c0dfbab896	@DISEASE$ (@PHENOTYPICFEATURE$/deafness) caused by mutation of MITF.	has_symptom
+441fe78a3bab6311276e669b1e25ceb170e5f9db	@DISEASE$ (hypopigmentation/@PHENOTYPICFEATURE$) caused by mutation of MITF.	false
+9e310ca42beb01367a3e92779750e2f9399ff876	Tietz syndrome (@DISEASE$/@PHENOTYPICFEATURE$) caused by mutation of MITF.	false
+51c7cf9c6249375b1f5da1a6a571e578ce7d2a07	Localized @PHENOTYPICFEATURE$ can be found in piebaldism, Waardenburg syndrome and @DISEASE$, whereas diffuse forms are typical for oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	has_symptom
+7f95cf79c10c52f790c87c8a38518a0b96ad4e13	Localized hypopigmentation can be found in piebaldism, @DISEASE$ and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+fa9144e168fcac6b654ec473ef524dc20aac3e86	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, @DISEASE$ and Griscelli syndrome.	false
+ea460777dcbf90a2b00d785f584c6ec40ee5579b	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, Chediak-Higashi syndrome and Griscelli syndrome.	false
+2d4b36accc5f2bdb79f781dc4120225b6c33ea2e	Localized hypopigmentation can be found in @DISEASE$, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+1e374b25a1cb8e3717d0c52171ab92ea96ac0078	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and @DISEASE$.	false
+2d418f879fc4903ecd39f9678765eb5ed8bf5b2a	Localized @DISEASE$ can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+7cc4c4f38429fa6ab236544df43cc334a8a54299	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and @DISEASE$, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+c9aadd26f0dc7eeb166b7210093680e1c5b02858	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness syndromes Waardenburg syndrome type 2A (WS2A) and @DISEASE$ (TS).	has_symptom
+c491efc6013b26aa3228973ee5eafd50ae37f154	Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and @PHENOTYPICFEATURE$ syndromes Waardenburg syndrome type 2A (WS2A) and @DISEASE$ (TS).	false
+fbd233146adb80fde16bab81c19b685ea982381c	Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and @PHENOTYPICFEATURE$ syndromes @DISEASE$ (WS2A) and Tietz syndrome (TS).	false
+15c592d4271e8e371228f79c38c72fd0e5235129	Mutations in the MITF have been found in patients with the dominantly inherited @DISEASE$ and @PHENOTYPICFEATURE$ syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).	false
+6c74091838cbc86f8bc29a8dc70472d62f4a7415	Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and @PHENOTYPICFEATURE$ @DISEASE$ Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).	false
+66f24da2cb7919b4c02a9c477808ddccd2c25d39	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and @DISEASE$, autosomal dominant disorders resulting in deafness and @PHENOTYPICFEATURE$.	has_symptom
+2d18b1f1eda8b08ea518187591bf27a866250ffa	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and @DISEASE$, autosomal dominant disorders resulting in @PHENOTYPICFEATURE$ and hypopigmentation.	false
+7cd2ed53981fbe0e192bc7a0a3768f2e75020f55	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+97d11241a140f5730358ff4b158bca9122bcdc23	In humans, MITF mutations cause @DISEASE$ (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in @PHENOTYPICFEATURE$ and hypopigmentation.	false
+edacc3f28a5e193e5a27abc1cb5969e7b65775f4	In this report, we describe a family with EEM syndrome caused by a novel CDH3 gene mutation and review the mutation spectrum and @PHENOTYPICFEATURE$ in both EEM and @DISEASE$.	has_symptom
+b5a49b15359c014cd59b90728c5202931e7fe782	It is important for genetic counseling to keep in mind the possible clinical/phenotypic overlap between these 2 syndromes and to be aware of the possible risk of @PHENOTYPICFEATURE$ in future pregnancies in families with @DISEASE$ syndrome.	has_symptom
+b79fb12e9fa4359991e375fe5e3d94bf3c57a974	@PHENOTYPICFEATURE$, dementia, and motor and speech declines all impact the educational experience of individuals with @DISEASE$ and can adversely impact effective learning.	has_symptom
+7a6b6a1a347c47a0e8f009eeb943dab81e01d2a5	Since retinal degeneration is an early consequence of @DISEASE$, we examined the eyes of Cln3 knockout mice (1-20 months of age), along with heterozygotes and appropriate controls, to determine whether or not the Cln3 defect would lead to characteristic retinal degeneration and @PHENOTYPICFEATURE$.	has_symptom
+2e2d7e232cfe1c8af791d7371b1b543ff8650809	The neuronal ceroid lipofuscinoses (@DISEASE$) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and @PHENOTYPICFEATURE$ secondary to retinal dystrophy.	has_symptom
+707f3ce399575183c0d3c539b8f770d592f95153	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of @DISEASE$ causing progressive neurological failure, @PHENOTYPICFEATURE$, seizures and visual loss secondary to retinal dystrophy.	false
+505938a42a489f18b3e3a96056bfff2c7f86ad61	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, @PHENOTYPICFEATURE$, seizures and @DISEASE$ secondary to retinal dystrophy.	false
+16e942a378ab8a610e5170164dc0fb8fbe03b478	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of @DISEASE$ causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and visual loss secondary to retinal dystrophy.	false
+a47a43934a531b29aab6a9250652b78023fb3faf	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and @DISEASE$ secondary to retinal dystrophy.	false
+112900cf9d4afdd415d0fe7f250ed12bc0e091e2	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and visual loss secondary to @DISEASE$.	false
+62e4b0e5fe7e6e764ee50db74e2a80dbd4cd751f	The neuronal ceroid lipofuscinoses (@DISEASE$) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, @PHENOTYPICFEATURE$, seizures and visual loss secondary to retinal dystrophy.	false
+60493ca15d176a133bc30dedc96c1f33cdac4c72	The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, @PHENOTYPICFEATURE$, seizures and visual loss secondary to @DISEASE$.	false
+68ccbb9898bdf1d2d4560e5766321e9c86cc9e20	The neuronal ceroid lipofuscinoses (@DISEASE$) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, @PHENOTYPICFEATURE$ and visual loss secondary to retinal dystrophy.	false
+be635527e40b60fd8bdfbd4c92d2a58071840321	The neuronal ceroid-lipofuscinoses (@DISEASE$) are a group of severe neurodegenerative disorders characterized clinically by @PHENOTYPICFEATURE$, seizures and psychomotor degeneration, and pathologically by loss of neurons and lysosomal accumulation of autofluorescent storage material resembling ageing pigment.	has_symptom
+a8e71dee38ca17b7bd81be9644ccd413a3024141	The neuronal ceroid-lipofuscinoses (@DISEASE$) are a group of severe neurodegenerative disorders characterized clinically by visual loss, @PHENOTYPICFEATURE$ and psychomotor degeneration, and pathologically by loss of neurons and lysosomal accumulation of autofluorescent storage material resembling ageing pigment.	false
+1b3c9da2b88dfa631abb50acd51d9a2fd7ccb66e	The neuronal ceroid-lipofuscinoses (Batten disease) are a group of severe neurodegenerative disorders characterized clinically by @DISEASE$, @PHENOTYPICFEATURE$ and psychomotor degeneration, and pathologically by loss of neurons and lysosomal accumulation of autofluorescent storage material resembling ageing pigment.	false
+9a57d7752ad4057ef229e68f58b587e54b361967	Familial @DISEASE$ is a very rare disease with clinical features including corneal opacity, hemolytic anemia, and @PHENOTYPICFEATURE$.	has_symptom
+b84c2e0093568a40562a48a3dafda16ce3b0a672	Familial @DISEASE$, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by corneal opacity, anemia and frequently, though not invariably, @PHENOTYPICFEATURE$.	has_symptom
+0f00a1fb2d9a5f14a9342ce89a9f65291fda2c2e	Familial LCAT deficiency, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by @PHENOTYPICFEATURE$, anemia and frequently, though not invariably, @DISEASE$.	false
+8c3536c808f654ce3f46227fdaff455badd34c3f	Familial LCAT deficiency, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by @PHENOTYPICFEATURE$, @DISEASE$ and frequently, though not invariably, renal failure.	false
+caea4827fcececaa763f335a514a7f0c4350db9a	Familial @DISEASE$, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by @PHENOTYPICFEATURE$, anemia and frequently, though not invariably, renal failure.	false
+7d2e533990dddfb8d07afeba4322fe995690e20e	Familial @DISEASE$ with @PHENOTYPICFEATURE$ in two siblings.	has_symptom
+9ddbf39fadbbb97b3586ada56e5fd735b238592e	These results suggest that Lp-X participates in the pathogenesis of glomerulosclerosis and subsequent @PHENOTYPICFEATURE$ in familial @DISEASE$ patients by stimulating monocyte infiltration via a mechanism involving mesangial MCP-1 expression.	has_symptom
+2185cbffa6ba544d6f7c813b4e7572556db65bc4	We report on the long-term observation of a patient with familial @DISEASE$ who developed @PHENOTYPICFEATURE$, diabetes mellitus, and marked atherosclerosis.	has_symptom
+e2bbaf2b9daac36290d2fa2605b0b8771fed4fe7	Familial @DISEASE$ (FLD) is a rare genetic disorder associated with corneal opacities, anaemia and proteinuria with @PHENOTYPICFEATURE$.	has_symptom
+f4ceb18dd87d2715fbc91264f968c5e9b9e11342	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with @DISEASE$.	false
+c1c55bde58ca86803f18c314e8313fa6d43c0136	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, @DISEASE$ and proteinuria with renal failure.	false
+ed998bc199b45b32283751d37767a0109cf87b94	Familial LCAT deficiency (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and @DISEASE$ with renal failure.	false
+70d9014592990015c78202e91d4c02d8a9f2b760	Familial LCAT deficiency (FLD) is a rare @DISEASE$ associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	false
+c27b01764774ee112c3960bd2128cc821c83c275	Familial LCAT deficiency (@DISEASE$) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	false
+702803a17ad55dab1e3207d94ac375b4ae21acb3	Familial @DISEASE$ (FLD) is a rare genetic disorder associated with @PHENOTYPICFEATURE$, anaemia and proteinuria with renal failure.	false
+d7a144dcefde9986ed5ee3dda6871a1bbcd937bd	@PHENOTYPICFEATURE$ in familial @DISEASE$.	has_symptom
+0396513779c4c48f1ee7684bc30aedd3ceea37fe	A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with @PHENOTYPICFEATURE$ in familial @DISEASE$.	has_symptom
+b4aff7ff53da66a61911be00e70bc48d0f59a79d	These findings cast doubt on the concept that large molecular weight LDL particles are the sole determinants of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+aedda885700aaf9d77c046da25a24888b292dc77	In the present study, we describe the molecular phenotype of a patient with classical @DISEASE$ and progressive @PHENOTYPICFEATURE$.	has_symptom
+a45f301f9457310e517c2c6eee16b547f46f434c	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and @PHENOTYPICFEATURE$.	has_symptom
+0dd62bf8455e7f61642c2220b93f1d8b3da2b81f	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and growth retardation.	false
+1449ad1ba6a60bb4995a0c3acb5840bb204984d1	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and growth retardation.	false
+37c4560b87f6449c574f539b28511c74c22d9f31	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+003fc868ecf70731aa06d817b37a36c4eb383599	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+ca53bf9b5f691930810eac260ef9d9be890dbcf7	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor @DISEASE$ anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+cd929e6bec5eea36082af4e147714702294597f8	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6b49c5d06db6dc881983b7bcc0d4f04f64905649	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+24ab99168ec3b2d3d32a294a191f7b73b04e92f0	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+9f85c641425156c5418cbbcd96207e792cf2979a	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor @DISEASE$ anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+59cabf6a201a774028de7ad434d1fb9120dd761e	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, @DISEASE$ with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+e626ec17f1978505125f8f1bb5cb34bcb9fb78c0	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and @DISEASE$.	false
+1e908d0d72a74be135553fa87887fab2162d827f	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, @DISEASE$ with minor facial anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and growth retardation.	false
+3468bae98368af5e9677f2e4b6d1d04d7f6be132	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive @DISEASE$; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+6d5ab6651a10954fd9990f05ee1fcc861ba54bed	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor @DISEASE$ anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and growth retardation.	false
+bdd51cd89f4a38b55d1113e14477d6a338ec05ca	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+d4bb7c84b9a8c00e4fd17368b0c69de077985c01	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive @DISEASE$; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, @PHENOTYPICFEATURE$, and growth retardation.	false
+433f5cddd5a3087bda939fb5bd759551e7627e62	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, @DISEASE$ with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+e3b845cd17f5f20c983298fcec04dbe76dd7397c	Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive @DISEASE$; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+6847479a2d9c696e76b96f52dd72a17a56a5bc25	In this uncommon disease: @PHENOTYPICFEATURE$-jaw tumor (@DISEASE$) syndrome, parathyroid tumor is frequently malignant and usually associated with nonendocrine malignancies (2).	has_symptom
+f53c66ba28b4360b8b015682eee13807000d2970	In this uncommon disease: hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, @DISEASE$ is frequently malignant and usually associated with nonendocrine malignancies (2).	false
+ded5a9dd56c1919d0da7f7625b939c0674987076	In this uncommon disease: hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) @DISEASE$, parathyroid tumor is frequently malignant and usually associated with nonendocrine malignancies (2).	false
+5c31695fdef9b193d90897865141156e6082ec95	In this uncommon disease: @DISEASE$-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, parathyroid tumor is frequently malignant and usually associated with nonendocrine malignancies (2).	false
+7f31904f887a8fb8f6b0ee0bef33a91db3fad0f4	In this uncommon disease: hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (@DISEASE$) syndrome, parathyroid tumor is frequently malignant and usually associated with nonendocrine malignancies (2).	false
+1d927ab57ae91bbf2c27e1a157868d99962bca47	Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including: multiple endocrine neoplasia (MEN) type 1, MEN type 2A, MEN4, benign familial hypocalciuric hypercalcemia, neonatal severe @PHENOTYPICFEATURE$, @DISEASE$, and familial isolated hyperparathyroidism.	has_symptom
+655d69c946f3e175e29dca2b6ad46850383518f6	Germline mutations in the tumour suppressors multiple endocrine neoplasia type 1 (MEN1) and @DISEASE$ (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and @PHENOTYPICFEATURE$ jaw tumour syndrome, respectively.	has_symptom
+1452c7490e461d31a0367ba999017f33df079ae5	Germline mutations in the @PHENOTYPICFEATURE$ suppressors @DISEASE$ (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and hyperparathyroidism jaw tumour syndrome, respectively.	false
+4dc87ed9328954457e8168e4188407a238361b34	Germline mutations in the tumour suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and @DISEASE$ jaw @PHENOTYPICFEATURE$ syndrome, respectively.	false
+1283907fec2b55a481d81894a9fc85ecb1bd045d	Germline mutations in the @PHENOTYPICFEATURE$ suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of @DISEASE$ and hyperparathyroidism jaw tumour syndrome, respectively.	false
+aa223065caa86a564b4d04072c8fe89a4937f89d	Germline mutations in the @PHENOTYPICFEATURE$ suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and @DISEASE$ jaw tumour syndrome, respectively.	false
+8586950d847ea4cfedb2b03adcda806250477ba6	Germline mutations in the tumour suppressors multiple endocrine neoplasia type 1 (MEN1) and @DISEASE$ (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and hyperparathyroidism jaw @PHENOTYPICFEATURE$ syndrome, respectively.	false
+2e20fedecf9d3010a10616c86ee8f74e52689d20	Germline mutations in the tumour suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of @DISEASE$ and hyperparathyroidism jaw @PHENOTYPICFEATURE$ syndrome, respectively.	false
+39b6c852338685d0ab736a96c38be8fd6ada4156	Germline mutations in the @PHENOTYPICFEATURE$ suppressors multiple endocrine neoplasia type 1 (MEN1) and @DISEASE$ (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and hyperparathyroidism jaw tumour syndrome, respectively.	false
+8093df30f9765cbfa189c3dd111e0ce0f680f2f8	Germline mutations in the tumour suppressors @DISEASE$ (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and hyperparathyroidism jaw @PHENOTYPICFEATURE$ syndrome, respectively.	false
+af92dedd1b4430d95cb05aae9f02fa8eff0eed3f	Germline mutations in the @PHENOTYPICFEATURE$ suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and hyperparathyroidism jaw tumour @DISEASE$, respectively.	false
+22d548ebb5646a5012b04d0ee1057e129bf7f345	Germline mutations in the tumour suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and hyperparathyroidism jaw @PHENOTYPICFEATURE$ @DISEASE$, respectively.	false
+7cd32d588205cfd6a9ff6870a8238d0a14203a45	The genetic syndromes associated with PHPT include multiple endocrine neoplasia type 1 (MEN1), MEN2A, and MEN4, @DISEASE$, familial isolated PHPT, familial hypocalciuric hypercalcemia, and neonatal severe @PHENOTYPICFEATURE$.	has_symptom
+9c772f58716bd124bd5a4a471d5b00b4f3710eae	In patients with @PHENOTYPICFEATURE$ jaw tumor (@DISEASE$) syndrome, caused by germline mutations in HRPT2, the development of parathyroid carcinoma is estimated to be 10-15%.	has_symptom
+c69809b3ed9612d6da92a51a4609cbc92ff1518a	In patients with hyperparathyroidism jaw @PHENOTYPICFEATURE$ (@DISEASE$) syndrome, caused by germline mutations in HRPT2, the development of parathyroid carcinoma is estimated to be 10-15%.	false
+fae78392367cbd3e5d0319e27d5ab31acf1708e0	In patients with hyperparathyroidism jaw @PHENOTYPICFEATURE$ (HPT-JT) @DISEASE$, caused by germline mutations in HRPT2, the development of parathyroid carcinoma is estimated to be 10-15%.	false
+b759cae7b8d0da8533a209a3c0147214c9d59964	In patients with @DISEASE$ jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, caused by germline mutations in HRPT2, the development of parathyroid carcinoma is estimated to be 10-15%.	false
+90a1d49b649d0434de69e56511f0195fdbb59b50	In patients with hyperparathyroidism jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, caused by germline mutations in HRPT2, the development of @DISEASE$ is estimated to be 10-15%.	false
+6c1bb14b1f814778ab97c154df621e2fb62dca08	The parafibromin subunit of the hPAF complex is a product of the hereditary @DISEASE$ (HRPT-2) tumor-suppressor gene, which is mutated in the germ line of @PHENOTYPICFEATURE$-jaw tumor patients.	has_symptom
+ddbab616c65cf252137ac5ff5f913451c3db7629	The parafibromin subunit of the hPAF complex is a product of the hereditary @DISEASE$ (HRPT-2) @PHENOTYPICFEATURE$-suppressor gene, which is mutated in the germ line of hyperparathyroidism-jaw tumor patients.	false
+818b9ce96433d77e832c73260028a2d34eb95da0	The parafibromin subunit of the hPAF complex is a product of the hereditary hyperparathyroidism type 2 (HRPT-2) tumor-suppressor gene, which is mutated in the germ line of @DISEASE$-jaw @PHENOTYPICFEATURE$ patients.	false
+35ddf5eebe18d9ae63e2631114ed750341c8be57	The parafibromin subunit of the hPAF complex is a product of the hereditary hyperparathyroidism type 2 (HRPT-2) @PHENOTYPICFEATURE$-suppressor gene, which is mutated in the germ line of @DISEASE$-jaw tumor patients.	false
+92edf30630e0059f8be5901a13846ae769c456cd	The parafibromin subunit of the hPAF complex is a product of the hereditary @DISEASE$ (HRPT-2) tumor-suppressor gene, which is mutated in the germ line of hyperparathyroidism-jaw @PHENOTYPICFEATURE$ patients.	false
+aa0adfe06d56ee58743173ac6c96e51f887e0d2e	HRPT2 mutations were first identified in patients with the multiple endocrine neoplasia syndrome, @PHENOTYPICFEATURE$-jaw tumor (@DISEASE$) syndrome, and have also been found in sporadic parathyroid and renal tumors.	has_symptom
+8f23fb00ff93649491cfb378ea6a7ee38b9f0341	HRPT2 mutations were first identified in patients with the multiple endocrine neoplasia syndrome, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (@DISEASE$) syndrome, and have also been found in sporadic parathyroid and renal tumors.	false
+6dadffd6651731411bcaa07dac580aaf8a1b6a20	HRPT2 mutations were first identified in patients with the multiple endocrine neoplasia syndrome, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, and have also been found in sporadic parathyroid and @DISEASE$.	false
+b9a81793091f961eb1c6e490bd85bbca1ec8d0ac	HRPT2 mutations were first identified in patients with the multiple endocrine neoplasia syndrome, @DISEASE$-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, and have also been found in sporadic parathyroid and renal tumors.	false
+dc0893242d4b99d68a152a4d846543df7eb6e169	HRPT2 mutations were first identified in patients with the @DISEASE$, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, and have also been found in sporadic parathyroid and renal tumors.	false
+5d7f10f9ac399651b861cbe727f89f27c6b19bc2	HRPT2 mutations were first identified in patients with the multiple endocrine neoplasia syndrome, hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) @DISEASE$, and have also been found in sporadic parathyroid and renal tumors.	false
+1d52cdeb75b83fbec87b8751a222b4b701a08e6c	Familial isolated hyperparathyroidism (FIHP) can result occasionally from the incomplete expression of a syndromic form of familial @PHENOTYPICFEATURE$ (HPT), specifically multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric hypercalcemia, or the @DISEASE$ (HPT-JT).	has_symptom
+0a1803579e94b20382e03cd7f72bf27f1c9fd968	Mutations of the human CDC73/HRPT2 gene are associated with @PHENOTYPICFEATURE$-jaw tumor (@DISEASE$) syndrome, an autosomal dominant disorder.	has_symptom
+123b4dff37247072b2c79622ce4c67e313748982	Mutations of the human CDC73/HRPT2 gene are associated with hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (@DISEASE$) syndrome, an autosomal dominant disorder.	false
+2dc05fab5b275795d4168648f2e63995b613d57e	Mutations of the human CDC73/HRPT2 gene are associated with hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) @DISEASE$, an autosomal dominant disorder.	false
+6d682405fae4713914f96fba9b389d732ec9ef38	Mutations of the human CDC73/HRPT2 gene are associated with @DISEASE$-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, an autosomal dominant disorder.	false
+03a2239c27c272e024cd042a36f65b3cf3a3a000	Germline and somatic inactivating mutations in the HRPT2 gene occur in the inherited @DISEASE$, in some cases of parathyroid cancer and in some cases of familial @PHENOTYPICFEATURE$.	has_symptom
+3e06e25898d7e9290d9c0d7ab6511667d183ae6e	suggesting @DISEASE$ @PHENOTYPICFEATURE$ or an infiltrative process.	has_symptom
+80016be32e2a9cbaed7995a26751fa0512865f16	[@DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+23330c62ae659aa8c9c5413a41ed01cf4dedf71c	Autopsy findings showed extreme pulmonary congestion and @PHENOTYPICFEATURE$ as well as moderate @DISEASE$ edema and several petechiae.	has_symptom
+8e6baec239e2f5b28b3b4359f27587c8b82c0951	Autopsy findings showed extreme pulmonary congestion and edema as well as moderate @DISEASE$ @PHENOTYPICFEATURE$ and several petechiae.	has_symptom
+80016be32e2a9cbaed7995a26751fa0512865f16	[@DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+50131d3aa7a06c294ba3ca00f99684df4b1177d3	Treatment of @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+df5ac30606d0558ca84fed530020c16fb5421a46	Observations of @PHENOTYPICFEATURE$ due to @DISEASE$ cirrhosis].	has_symptom
+500ba4fc817a9df34f490882dba83d286d576927	No adverse reactions such as @PHENOTYPICFEATURE$ or @DISEASE$ toxicity were noted.	has_symptom
+3e8259318b6ed26a6d5497b30b905991f537ece9	[Variable aspects of @DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+80016be32e2a9cbaed7995a26751fa0512865f16	[@DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+ffb06909bcd3e9447395ee930152ea558a134e4e	[Antidiuretic principles and @DISEASE$ @PHENOTYPICFEATURE$].	has_symptom
+28d55a317562d5f4431a1534489d213be3fa7519	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by tumors other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the @DISEASE$, @PHENOTYPICFEATURE$, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor.	has_symptom
+e22a89b73d09b1bb75d2564a5c248a45c86ac024	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, hypercalcemia, @DISEASE$, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor.	false
+8b5b6a9ec870c95c42d3ecb7d128eca4ad2350af	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, hypercalcemia, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and @DISEASE$.	false
+b0e31e3ce4533123f152a1e8d50f382d5a5b26bb	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, hypercalcemia, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with @DISEASE$ and placental site trophoblastic tumor.	false
+08258b3696351ce778394a8f6dcce4a074b1e0c9	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the @DISEASE$, hypercalcemia, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor.	false
+06043fefda3c52b6ea2ca49d2bed5ffffb54d3f1	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, hypercalcemia, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, @DISEASE$, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor.	false
+b270b4d9dad3ac057f873372a8b3d6a199e824c3	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, @DISEASE$, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor.	false
+494d26dc2ca78929ab9eb079434033814e10fb85	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by @PHENOTYPICFEATURE$ other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, hypercalcemia, Cushing's syndrome, @DISEASE$, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and placental site trophoblastic tumor.	false
+a8600b0d5ce819ac7a0e8bcfb9854c402d193339	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, @DISEASE$ collagen vascular disease, obesity, @PHENOTYPICFEATURE$, fluid and electrolyte disorders, deficiency anemias, and paralysis.	has_symptom
+29f71747e9817970664bc884c4eaa5e005ad8a5b	Adults with @PHENOTYPICFEATURE$ spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen vascular disease, obesity, weight loss, fluid and electrolyte disorders, @DISEASE$, and paralysis.	false
+dce9badb4f23ca6a4b4fcb6d16b40e38cb1b989f	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen vascular disease, @PHENOTYPICFEATURE$, @DISEASE$, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+302586d8a34582c4bfac7ac94dbcb5ea714a0502	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen vascular disease, @PHENOTYPICFEATURE$, weight loss, fluid and electrolyte disorders, @DISEASE$, and paralysis.	false
+1c01d9af98f3011085e5fcdd81443f709c647e9f	Adults with @PHENOTYPICFEATURE$ spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, @DISEASE$, hypothyroidism, rheumatoid arthritis collagen vascular disease, obesity, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+c738b1a15c949d1294b451139050fde25ea26603	Adults with @PHENOTYPICFEATURE$ spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, @DISEASE$ collagen vascular disease, obesity, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+d1c02078342ae6c6f53b1ddb18a3d5a00be47d7f	Adults with @PHENOTYPICFEATURE$ spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, @DISEASE$, rheumatoid arthritis collagen vascular disease, obesity, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+09994974a029e653a5d1a4513337f8e9f038d99b	Adults with @PHENOTYPICFEATURE$ spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen vascular disease, obesity, @DISEASE$, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+093277dbb51d41ff0816e0f47968f1477af63f31	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, @DISEASE$ collagen vascular disease, @PHENOTYPICFEATURE$, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+8c110b68f7c96d2e0fda595f091f9741add99198	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, @DISEASE$, hypothyroidism, rheumatoid arthritis collagen vascular disease, @PHENOTYPICFEATURE$, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+7e39022081cbcee63c37f02397845671b287e79b	Adults with @PHENOTYPICFEATURE$ spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen @DISEASE$, obesity, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+bfce6f8f62335692a8f14a2f7b9b74a722d1d21c	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, @DISEASE$, rheumatoid arthritis collagen vascular disease, @PHENOTYPICFEATURE$, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+f4a5e843a82e5992cb042808c5035a700a1c12bb	Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen @DISEASE$, @PHENOTYPICFEATURE$, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis.	false
+2c35e77bf1c1d7a35af53b4005c314ff529980a4	The patient had history of @DISEASE$ and presented to our emergency department with a 3-month history of dyspnea, orthopnea, fevers and @PHENOTYPICFEATURE$, worsening over 2 weeks, for which she took intermittent acetaminophen.	has_symptom
+21a41a893a8a138e8716d9926ac435bd5c87df8e	The @DISEASE$ is characterized by intellectual disability, epilepsy, @PHENOTYPICFEATURE$ and friendly behavior.	has_symptom
+9de8b83faed56a8c86006187d2d3f7297a639c51	The 17q21.31 microdeletion syndrome is characterized by @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and friendly behavior.	false
+9684c16e0efae64e4357e37ea07e5b7cb5e6319e	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, epilepsy, facial dysmorphism and friendly behavior.	false
+679ad178f27c24292c777aafa25667d32bd664dd	The @DISEASE$ is characterised by intellectual disability, epilepsy, distinctive @PHENOTYPICFEATURE$, and congenital anomalies.	has_symptom
+b17fc6a01fe03dfa2724fa3bbe00e8aaa2a2aa9f	The @DISEASE$ is characterised by @PHENOTYPICFEATURE$, epilepsy, distinctive facial dysmorphism, and congenital anomalies.	false
+45dc923b4bd27402a26193ad76d245ac57a0c084	The 17q21.31 microdeletion syndrome is characterised by @PHENOTYPICFEATURE$, epilepsy, distinctive facial dysmorphism, and @DISEASE$.	false
+ebd96aa05fd9d6133abc6233530f6962fbcbd2b8	The 17q21.31 microdeletion syndrome is characterised by @PHENOTYPICFEATURE$, epilepsy, distinctive @DISEASE$, and congenital anomalies.	false
+a9afa715c8fe0d0a6045448cf1c6e74690fa4f4f	@PHENOTYPICFEATURE$ was present in 8 patients and @DISEASE$ was noted in 6.	has_symptom
+384777d5c095dd1f982aa8910e431d37724b2154	Initial manifestations are often visual disturbances, endocrinopathies and hypothalamic dysfunction such as the @DISEASE$, and sometimes @PHENOTYPICFEATURE$ due to cerebrospinal fluid (CSF) outflow obstruction.	has_symptom
+3c6dcf48ff7a617f329706044875304320518d95	Eleven patients had visual disturbance, six had @DISEASE$ and four had @PHENOTYPICFEATURE$.	has_symptom
+3c1c2c6447fe43dc2d30e6d6c625c5d5e448cfc7	Three patients (two females, one male) are reported with bilateral @PHENOTYPICFEATURE$, @DISEASE$, more or less moderate mental retardation, decreased catalase activity, and del 11p13.	has_symptom
+67b57f3edfff94872ab76dc4ea1627d0af434940	Sporadic @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2d26707e45a00fcd1b2311ee62d20a2fd313f83c	Our patient had bilateral @PHENOTYPICFEATURE$, @DISEASE$ and cryptorquidia.	has_symptom
+5b578d187ef6914aeef1457c9e4a1e22f6b6eff0	Bilateral @DISEASE$ may be associated with congenital bilateral @PHENOTYPICFEATURE$ in children.	has_symptom
+3c32eb34e1553a7ccdff6a8e68a747a7eec6b44e	@DISEASE$ has so far only been associated with sporadic de novo @PHENOTYPICFEATURE$ cases.	has_symptom
+b6bccded2f2a45ed8122127af19f9d61d8720dcb	Sporadic @PHENOTYPICFEATURE$ and @DISEASE$: visual function evaluation of three cases.	has_symptom
+e31406039d9d2deee38377bd0347f20d2af36c94	@PHENOTYPICFEATURE$/glaucoma and @DISEASE$ in a sibship with renal tubular acidosis and sensory nerve deafness.	has_symptom
+657ad53360904830768e8e5b0355177f27b6c0a1	Aniridia/glaucoma and @DISEASE$ in a sibship with renal tubular acidosis and sensory nerve @PHENOTYPICFEATURE$.	false
+18e7781bf13b251aca63ebc585cfbdbd628cde3d	@DISEASE$/@PHENOTYPICFEATURE$ and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.	false
+1432f4481b74024562a3c38085c2b84faeb3c5ec	Aniridia/@PHENOTYPICFEATURE$ and Wilms tumor in a sibship with @DISEASE$ and sensory nerve deafness.	false
+c8528fec052edec883ba1f3f898df5257acc6bf6	@DISEASE$/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve @PHENOTYPICFEATURE$.	false
+871dd84746f2fbd0d3bdc90b9856503f431ec1e1	Aniridia/@PHENOTYPICFEATURE$ and @DISEASE$ in a sibship with renal tubular acidosis and sensory nerve deafness.	false
+4a9e01b0f3bc995ad346825ab2a6716f50191a2b	Aniridia/glaucoma and Wilms tumor in a sibship with @DISEASE$ and sensory nerve @PHENOTYPICFEATURE$.	false
+eb944469e3c57200f441c52addcab21780b21e0a	Twenty patients exhibited congenital sporadic @PHENOTYPICFEATURE$, and unilateral @DISEASE$ has developed in seven of them.	has_symptom
+537416aa2373b3cf4f7c1f04de9136ff047ede28	This association is reinforced by the fact that patients with spontaneous @PHENOTYPICFEATURE$ with a 1 in 3 risk of @DISEASE$ have been reported as having a specific 11p13 deletion.	has_symptom
+e4a5f279624325d1022b4b354ee56b55237df06c	In the combined series of 35 patients with congenital sporadic @PHENOTYPICFEATURE$, 12 patients have developed  @DISEASE$ for an incidence of 34%.	has_symptom
+63874a1b2930be11dd3d49de1f75850fac041313	Frequency of @DISEASE$ gene carriers in @PHENOTYPICFEATURE$ patients.	has_symptom
+761ed6de27c7d81f9aced8c36af43ae3b934259f	Lens @PHENOTYPICFEATURE$ are a prominent finding in @DISEASE$.	has_symptom
+66f76efea7ce781ba83dbc41d23572be868bbffd	Author's Reply: @DISEASE$: The occurrence of early-onset @PHENOTYPICFEATURE$.	has_symptom
+c4bfb49387e59ae078268291b074bb71d1a17d9f	[Severe bilateral capsulorhexis contraction after @PHENOTYPICFEATURE$ surgery in @DISEASE$: a case report].	has_symptom
+54d69c59d014b7b26e528c3a8cf2aff0ee77b2dd	[Symptomatologic value of @PHENOTYPICFEATURE$ in Steinert's @DISEASE$].	has_symptom
+933417d2b3a41fa7a07246ef668e6116bcff6d00	Reassessment of the specificity of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+14cfbc9362e504146e7ce337755c617ff111a3f1	Ultrastructure of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+fe76dd2e6137f7888ff33b8f355462debea2f395	Our results suggest that SIX5 deficiency contributes to the @PHENOTYPICFEATURE$ phenotype in myotonic dystrophy, and that @DISEASE$ represents a multigenic disorder.	has_symptom
+cf39f95ff37c5e4aea7b0ec9f8f9abb08e77a557	Our results suggest that SIX5 deficiency contributes to the @PHENOTYPICFEATURE$ phenotype in @DISEASE$, and that myotonic dystrophy represents a multigenic disorder.	has_symptom
+eb44971ca07e877987745690aa7727c1510b9f69	Recurrent posterior capsular opacification and capsulorhexis contracture after @PHENOTYPICFEATURE$ surgery in @DISEASE$.	has_symptom
+6e724af085aa592d12bb5ce1b4da1a6853d79de3	Recurrent posterior capsular opacification and capsulorhexis @PHENOTYPICFEATURE$ after cataract surgery in @DISEASE$.	false
+9cf2972080ef5932e45479a7e7cd61006afcaae9	Recurrent posterior capsular opacification and capsulorhexis @PHENOTYPICFEATURE$ after @DISEASE$ surgery in myotonic dystrophy.	false
+2f8b3fa77557b4e8c8ff310f433c4fe34c1ff459	The @PHENOTYPICFEATURE$ pateint with @DISEASE$.	has_symptom
+1cadd26ce264b865a6aa38b7819486e86a276d67	To describe the pathogenesis, clinical presentation, cerebrospinal fluid findings and outcome of Aspergillus @PHENOTYPICFEATURE$, meningoencephalitis and @DISEASE$.	has_symptom
+574b60fe726b6088a10a74acb0582f5cb5137e55	The purpose of this work is to elucidate the efficacy of endoscopic basal cisterns exploration, biopsy, and third ventriculostomy (ETV) in patients with basal cistern @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+8d90c5c3cb82a3a2fc8f44d29e15e6fe318bde8e	Progressive late-onset myelopathy and @DISEASE$ following neonatal @PHENOTYPICFEATURE$.	has_symptom
+a38bdd6a71ee66b41dcd0c6f2c8633185afaa9a2	CNS fungal infections comprise a wide spectrum of clinical syndromes, including abscesses, @PHENOTYPICFEATURE$/meningoencephalitis, focal masses, stroke/vasculitides, immune reconstitution inflammatory syndrome (IRIS), and spinal pathologies such as @DISEASE$.	has_symptom
+dfc5cfa58e034e27e52537124e40ce97e06b37a7	It is a viable alternative in the management of patients with basal cistern @PHENOTYPICFEATURE$ and @DISEASE$ without histopathological diagnosis.	has_symptom
+b2fb68d12771858ae9ed414649ddf040ca22c4d3	Severe progressive late onset myelopathy and @DISEASE$ following neonatal @PHENOTYPICFEATURE$.	has_symptom
+9a7e2aa59665f3b24cf83738755ea406bd0672c4	Life-saving ICD activation in a high-risk early @PHENOTYPICFEATURE$ @DISEASE$ patient.	false
+e7e880bbf7c1bac2d48979ab0940ca74203923f3	Atrioventricular plane displacement in severe @PHENOTYPICFEATURE$ following @DISEASE$ or myocardial infarction.	false
+c4b7611be48b5c68b8c514af79323192fc529037	At the time of follow-up examination (30 +/- 15 months), event-free survival was not significantly different between patients with mildly @PHENOTYPICFEATURE$ and those with typically @DISEASE$.	has_symptom
+4a48a675b8375aba4051bf823a17556f3ff83fa6	@DISEASE$, left ventricular non-compaction, and early onset @PHENOTYPICFEATURE$ associated with a de novo ?-tropomyosin gene mutation.	has_symptom
+c06233d48cfd7274868e039012f74053cc1fea1b	However, pregnancy in @DISEASE$ can be complicated with tachyarrhythmia or @PHENOTYPICFEATURE$.	has_symptom
+19b8e7d4724d88345e2c020213597ee6d7516a36	Case 6/2013: 56 years old woman with @DISEASE$ in @PHENOTYPICFEATURE$.	has_symptom
+ff10651b50873c92f84b01b5df2be57140416550	Reconstruction of the right heart in an elderly woman with @DISEASE$ and severe @PHENOTYPICFEATURE$.	has_symptom
+dc1550b181fdd2edfda8bc5d7ecaa0f2b9d70d6c	A 56-year-old female who had been diagnosed with @DISEASE$ was admitted with cyanosis and @PHENOTYPICFEATURE$.	has_symptom
+16d75d21419539b054736e7eaab563f9b9d9f72b	@DISEASE$ with congestive @PHENOTYPICFEATURE$.	has_symptom
+98b058e633a5dcb75290b038b07c9eba900d3a16	A 27-year-old male who had been diagnosed with @DISEASE$ was admitted with uncontrollable @PHENOTYPICFEATURE$.	has_symptom
+b1664dabda4a2da8ebd5a5f79a930e1f8331df7d	A case of @DISEASE$ associated with chronic right @PHENOTYPICFEATURE$, hepatosplenomegaly, and the haematological features of hypersplenism is presented.	has_symptom
+b6516f14fc141d8c4c4b51a4dccfd089f52e9084	Because echocardiography revealed @DISEASE$, medical treatment was performed, under the diagnosis of @PHENOTYPICFEATURE$.	has_symptom
+0006a8cc49bfc1b71878a9203c40f0f51ff84674	Symptomatic neonates with @DISEASE$ present with intractable @PHENOTYPICFEATURE$.	has_symptom
+bac5932d5ede630f8c31251361f663908d5e6894	@DISEASE$ (DCM), clinically characterized by contractile dysfunction and ventricular chamber enlargement, is a heterogeneous heart disease leading to progressive systolic heart failure and @PHENOTYPICFEATURE$.	has_symptom
+4848e51e95f6d4388db7a44c22266b3bef7ffbec	@DISEASE$ (DCM), clinically characterized by contractile dysfunction and ventricular chamber enlargement, is a @PHENOTYPICFEATURE$ heart disease leading to progressive systolic heart failure and sudden cardiac death.	false
+f85f879edd87eec04da561521fe15b583ac6dcd4	Dilated cardiomyopathy (DCM), clinically characterized by contractile dysfunction and ventricular chamber enlargement, is a @PHENOTYPICFEATURE$ @DISEASE$ leading to progressive systolic heart failure and sudden cardiac death.	false
+6c5596f764d266e311e986391475146e3b40bde5	Dilated cardiomyopathy (DCM), clinically characterized by contractile dysfunction and ventricular chamber enlargement, is a @PHENOTYPICFEATURE$ heart disease leading to progressive systolic heart failure and @DISEASE$.	false
+ad94bf7c96e7363add6383ce25e544f6301dcd2d	Dilated cardiomyopathy (DCM), clinically characterized by contractile dysfunction and ventricular chamber enlargement, is a @PHENOTYPICFEATURE$ heart disease leading to progressive @DISEASE$ and sudden cardiac death.	false
+b8b2bc63b79adf6d4d6b690c89d0d1890797ef9b	However, the pre-bronchoscopy diagnoses included lung cancer, mycobacteriosis, @DISEASE$, repetitive pneumonia, fungal infection, and interstitial @PHENOTYPICFEATURE$.	has_symptom
+ce1aa5c77bf49ee93298473560fc94ac4aafdc63	Hypersensitivity pneumonitis (HP) is an immunologically mediated form of diffuse lung disease, with histopathologic features that include cellular bronchiolitis, interstitial @PHENOTYPICFEATURE$, poorly formed granulomas, isolated multinucleated giant cells (MNGCs), @DISEASE$, and interstitial fibrosis.	has_symptom
+fd7298568a91d6e0f4936733ec2baa3ca83d4268	Nine patients presented pathologically nonspecific interstitial @PHENOTYPICFEATURE$ with @DISEASE$, alveolar epithelial injury and prominent interstitial cellular infiltrations whereas the other three patients were diagnosed with unclassifiable interstitial pneumonia.	has_symptom
+4144972b64b240e576a2c7fa5b1f24261e488f2e	Acute fibrinous and @DISEASE$ (AFOP) is a rare diffuse pulmonary disease, but it is not yet known whether it is a distinct form of interstitial @PHENOTYPICFEATURE$ or simply a reflection of a tissue sampling issue.	has_symptom
+21cc55be4aa725a47fece24f65e867bac7450d97	Formalin-fixed, paraffin-embedded lung sections from 17 autopsies of patients with various pulmonary fibrotic diseases, e.g., @DISEASE$, interstitial @PHENOTYPICFEATURE$, idiopathic pulmonary fibrosis, and diffuse alveolar damage, were stained with monoclonal antibodies for alpha-smooth muscle actin, vimentin, CD68, Type III collagen, and HSP47.	has_symptom
+b98ca2e4f993602560ca0a42727f881db1ff07fb	Thirty-eight (95%) patients had interstitial @PHENOTYPICFEATURE$; 37 (93%), cellular bronchiolitis; 32 (80%), nonnecrotizing granulomas; 31 (78%), isolated MNGCs; 34 (85%) @DISEASE$, and 31 (78%); interstitial fibrosis.	has_symptom
+3c07c9e392301e9bf231157c994f09d06eba9f57	Pulmonary parenchymal manifestations associated with ulcerative colitis (UC) include various conditions such as opportunistic infections, interstitial @PHENOTYPICFEATURE$, @DISEASE$, and adverse drug reactions.	has_symptom
+ce25184d953657f315b68434875349d51d40bda1	The pathologic diagnoses were invasive aspergillosis (eight), Candida @PHENOTYPICFEATURE$ (six), bronchiolitis obliterans with or without @DISEASE$ (six), drug-induced lung disease (four), Pneumocystis carinii pneumonia (four), cytomegalovirus pneumonia (three), pulmonary hemorrhage (one), and recurrent lymphoma (one).	has_symptom
+e82de178e8a4ba2f8807c186c8df0d9988ae0395	Regarding HRCT patterns, patients showed a Nonspecific Interstitial @PHENOTYPICFEATURE$ in nine cases, Usual Interstitial Pneumonia (UIP) and possible UIP in two and three cases, and a single case of @DISEASE$ and Combined Pulmonary Fibrosis and Emphysema Syndrome.	has_symptom
+934059ef23fd0858da0862f27537cc22bd659a17	The presence of a perivascular infiltrate did not correlate with the pattern of lung histology (diffuse alveolar damage, mononuclear interstitial @PHENOTYPICFEATURE$, or @DISEASE$) or with overall cellularity of the specimens.	has_symptom
+52ed067bde04aa529674e819be49391efba0d839	All patients have features consistent with @DISEASE$, although only three have breathing anomalies, and none has @PHENOTYPICFEATURE$.	has_symptom
+6f943930fee521b33f47aacb675830b66d9e4914	Genotype-phenotype analysis of TCF4 mutations causing @DISEASE$ shows increased @PHENOTYPICFEATURE$ activity with missense mutations.	has_symptom
+cf2a068094f6fe2e539fa8439a3ca74abbbf34dc	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of @PHENOTYPICFEATURE$ and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	has_symptom
+d4cf99b2eedafd34a842b22720531824e749e26d	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of @PHENOTYPICFEATURE$ and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	has_symptom
+f54c0015c35282a2108c2ebb22966428fc5a083b	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop @PHENOTYPICFEATURE$.	has_symptom
+9a4c5d3a35ecafe3a5196a7b451fa4e37fbf3c5c	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than @PHENOTYPICFEATURE$ and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	has_symptom
+29e94a86281f9e4011b6566ba5599d709c391a68	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop @PHENOTYPICFEATURE$.	has_symptom
+34ab733976fa8886f3eb5f016cc4f9ad4be666df	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, hyperventilation episodes are more common than @PHENOTYPICFEATURE$ and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	has_symptom
+db8238a8de5310ac9369da058cb98d8747aa149b	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with @DISEASE$ reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @PHENOTYPICFEATURE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+21c584e96a50f4b2c1a80c204b092551c5712be0	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with @DISEASE$, @PHENOTYPICFEATURE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+7daf3c1786b9175e3f392c440648d60aa1a2a497	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @PHENOTYPICFEATURE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop @DISEASE$.	false
+a68649e994a53974eafde8f480688757d222547d	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @PHENOTYPICFEATURE$ episodes are more common than @DISEASE$ and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+4d732f9d4604f71426d1a3296d1e9786a69595aa	Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of @DISEASE$ and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, @PHENOTYPICFEATURE$ episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.	false
+739459b00fae0c184ef4b055ef5585e1d8ff370c	@DISEASE$ is characterized by severe mental retardation, characteristic dysmorphic features, and susceptibility to childhood-onset @PHENOTYPICFEATURE$ and intermittent episodes of hyperventilation.	has_symptom
+f619c97f84129025d598eceae3fa1e95a517e3ef	Pitt-Hopkins syndrome is characterized by @PHENOTYPICFEATURE$, characteristic dysmorphic features, and susceptibility to childhood-onset @DISEASE$ and intermittent episodes of hyperventilation.	false
+7e1811565b65720027ab08da12a77cc8bc260977	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, characteristic dysmorphic features, and susceptibility to childhood-onset seizures and intermittent episodes of hyperventilation.	false
+9e12de51194a8faff515c79375af28d8813f9e0c	@DISEASE$ is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by mental retardation and hypotonicity despite the absence of hyperapnea and @PHENOTYPICFEATURE$.	has_symptom
+fe6c98d9aa322eb7c72799c2e8be4faaab476db4	@DISEASE$ is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by @PHENOTYPICFEATURE$ and hypotonicity despite the absence of hyperapnea and seizures.	false
+ca06c9381f376f7f2fb97d2c64e7709f664ae005	Pitt-Hopkins syndrome is a rare debilitating disease that should be in the differential diagnosis of other neurodevelopmental disorders characterized by @PHENOTYPICFEATURE$ and hypotonicity despite the absence of hyperapnea and @DISEASE$.	false
+1cb8e2483294b5669fd36b8820894bf1fe3da10d	A 13-year-old girl with genetically confirmed @DISEASE$ with uncontrolled seizures, while on treatment with levetiracetam and valproic acid, was started on perampanel, reaching @PHENOTYPICFEATURE$ control.	has_symptom
+108097fb05121e16282babf52755d386d8622a88	A 13-year-old girl with genetically confirmed @DISEASE$ with uncontrolled @PHENOTYPICFEATURE$, while on treatment with levetiracetam and valproic acid, was started on perampanel, reaching seizure control.	has_symptom
+cc041a0f2a458b176bb6542b453795abcf3a2751	@DISEASE$ (BOS) is a rare condition characterized by facial anomalies, multiple malformations, @PHENOTYPICFEATURE$ and severe intellectual disabilities.	has_symptom
+07b5fc650569b6ddc686ecfa4caee88ff3f05346	@DISEASE$ (BOS) is characterized clinically by severe developmental delays, microcephaly, @PHENOTYPICFEATURE$, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others).	has_symptom
+7d19e6673501c0bee04a873b2795c74f6c007224	Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, @PHENOTYPICFEATURE$, @DISEASE$, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others).	false
+1ee3bad846b62bfaeb701942a366531a764ccf7c	@DISEASE$ (BOS) is characterized clinically by severe developmental delays, @PHENOTYPICFEATURE$, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others).	false
+e8f09b4d1ca58bdeea4affbbb4b95f1e9469eec9	The clinical features - postulated by Bainbridge et al. to be overlapping with @DISEASE$ - were developmental delay, severe feeding difficulties, @PHENOTYPICFEATURE$ and neurological abnormalities.	has_symptom
+f385d1ebcf8b6eeec432db140111bbda471b8b0a	The clinical features - postulated by Bainbridge et al. to be overlapping with @DISEASE$ - were developmental delay, severe feeding difficulties, failure to thrive and @PHENOTYPICFEATURE$.	false
+56d0da86b335d43d57bc1c77d9a41a40ab8fb8cc	The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4296b2f2c466069565596c471ab15a2711660dad	A possibility of @DISEASE$ should be considered in all children presenting with early onset @PHENOTYPICFEATURE$ (especially with the presence of boggy swelling) and granulomatous uveitis.	has_symptom
+e3ec8a4c4278fc8f5bd34b9cc877e199cdf26dca	Marshall syndrome is a rare, autosomal dominant @PHENOTYPICFEATURE$ that is phenotypically similar to the more common disorder @DISEASE$.	has_symptom
+f1a0c817b30b7dc020a46eb242b85227b0a3b816	A patient had @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d5439355432dd1df9b7c79bac6fb7da5cc79de2d	@PHENOTYPICFEATURE$ and renal insufficiency are frequent sequelae of @DISEASE$.	has_symptom
+0304a19d9e1b856a9c7ca8ffb06a34513805d32a	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary @PHENOTYPICFEATURE$ - hypercalcemia - hypercalciuria - hyperparathyreosis - calcimimetics - calcitonin - @DISEASE$ - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	has_symptom
+c6c707d045d42d9ebf0cd0b01b2257dbff741424	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - hypercalcemia - hypercalciuria - hyperparathyreosis - calcimimetics - calcitonin - @DISEASE$ - malignant @PHENOTYPICFEATURE$ - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	has_symptom
+42c19091d9c5e04a380c8d5af794d8d86c52a624	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - @PHENOTYPICFEATURE$ - hypercalciuria - hyperparathyreosis - calcimimetics - calcitonin - @DISEASE$ - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	has_symptom
+0fbfd58214f7c69ca2c2865184e5699315ee4534	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - hypercalcemia - @PHENOTYPICFEATURE$ - hyperparathyreosis - calcimimetics - calcitonin - multiple myeloma - @DISEASE$ hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	false
+87ee298e2655507bcf60a1cc211670c5ddbd7212	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - @DISEASE$ - @PHENOTYPICFEATURE$ - hyperparathyreosis - calcimimetics - calcitonin - multiple myeloma - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	false
+5f88626e00eb6c640885e2bda7c43574330bfa5f	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary @DISEASE$ - hypercalcemia - @PHENOTYPICFEATURE$ - hyperparathyreosis - calcimimetics - calcitonin - multiple myeloma - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	false
+01f4b8dceaaaea81d52b6acaaa46b7b04a766e28	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - hypercalcemia - @PHENOTYPICFEATURE$ - hyperparathyreosis - calcimimetics - calcitonin - multiple myeloma - malignant @DISEASE$ - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	false
+b77b14f7a8771a2764625a826b2d465824704383	bisphosphonates - cinacalcet - denosumab - granulomatous diseases - hereditary hypercalcemia - hypercalcemia - @PHENOTYPICFEATURE$ - hyperparathyreosis - calcimimetics - calcitonin - @DISEASE$ - malignant hypercalcemia - parathormone - sarcoidosis - 1,25-dihydroxyvitamin D.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+ed264024ce1049577181f7987bcdf3158822fc7a	Diphosphonates were administered intravenously to 4 patients with @DISEASE$-induced @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+a6e7febc324822188c6451b1af209c5d18f055c4	[On the differential diagnosis of @DISEASE$-@PHENOTYPICFEATURE$].	has_symptom
+9d2577f3ad1c99b3c2eb06732ba91a0fb7118563	He has no evidence of @DISEASE$ except a @PHENOTYPICFEATURE$ and a hypoalbuminemia.	has_symptom
+9a9f852f28171a4a9b06557ddc1919b9cf176857	@DISEASE$/@PHENOTYPICFEATURE$.	has_symptom
+f6caa9715ad80848661e402c3aa0f73fe4179095	A patient with @DISEASE$ and @PHENOTYPICFEATURE$ responded to cytotoxic chemotherapy.	has_symptom
+8ccde8d8a2ca3d8279c9c54af33272d57b5f380b	In both, only the proposita revealed the full pattern of the @DISEASE$ including @PHENOTYPICFEATURE$, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia.	has_symptom
+79077044f8af9f9fa30eba05a46b84ce81cad88c	In both, only the proposita revealed the full pattern of the @DISEASE$ including lip pits, clefts, gingival synechiae, popliteal pterygia, @PHENOTYPICFEATURE$ and genital hypoplasia.	false
+1f92740736021b32f45aa4cbfb54bc391ad6c623	In both, only the proposita revealed the full pattern of the PPS including @DISEASE$, clefts, gingival synechiae, popliteal pterygia, @PHENOTYPICFEATURE$ and genital hypoplasia.	false
+62b8b4b07d716915eb4e246631551efa5852ff73	In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal @DISEASE$, @PHENOTYPICFEATURE$ and genital hypoplasia.	false
+a1ff86d86b1f23aecd015cdbab93d8af3a2fcbbb	In both families, one parent and in one, additional members were mildly affected, and both families include members with @PHENOTYPICFEATURE$ as the only manifestation of the @DISEASE$.	has_symptom
+7114cb286bd75aee8ee828f37ba8ea5f5e0bfef7	Skeletal, genital malformations and involvement of the skin occur in @DISEASE$ and orofacial clefting and @PHENOTYPICFEATURE$ occur in both.	has_symptom
+bb5912375a37698d35aecc43e839c634d8123f60	Van der Woude syndrome (VWS) and @DISEASE$ (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, @PHENOTYPICFEATURE$, skin-folds, syndactyly and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	has_symptom
+4bd8dc0191617b7659e7fee6a583a34015603a4b	Van der Woude syndrome (VWS) and popliteal pterygium syndrome (@DISEASE$) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, @PHENOTYPICFEATURE$, skin-folds, syndactyly and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	has_symptom
+e36d4b64b3dadc3430ff691d68ac746f749a0a66	Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, @DISEASE$, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+2bc43aa88efc55ad52139492230b6a4875651a4a	Van der Woude syndrome (VWS) and @DISEASE$ (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+4c19a08e48060750d00ffd76bad16b3d394d38fa	Van der Woude syndrome (@DISEASE$) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+0fe4fb747496ba3c030e69f0cbd9d9feb045f87a	@DISEASE$ (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+e130fd6e644122668099509fdeae5a221f8fa9fa	Van der Woude syndrome (VWS) and popliteal pterygium syndrome (@DISEASE$) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+40def9138bbcbfa525e4110739195e2ecbc2a04d	Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of @DISEASE$, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+e240dc8ab4d5246e5e4f59ae8ddc936a357c26b5	The conventional statistical analysis confirmed that age, anemia, uremia, @PHENOTYPICFEATURE$, hyperglobulinemia, hyperuricemia and IgA lambda type @DISEASE$ were associated with a poor prognosis.	has_symptom
+0807f9b8d7f15f679bbbeebbc889eb8b27979a70	The conventional statistical analysis confirmed that age, @DISEASE$, uremia, hypoalbuminemia, hyperglobulinemia, @PHENOTYPICFEATURE$ and IgA lambda type myeloma were associated with a poor prognosis.	false
+73f14dbe76503137facddd5ef547639303dbcbdf	The conventional statistical analysis confirmed that age, @DISEASE$, uremia, hypoalbuminemia, @PHENOTYPICFEATURE$, hyperuricemia and IgA lambda type myeloma were associated with a poor prognosis.	false
+86a228b4d1a39ba977cabe4d863049967032a1fa	The conventional statistical analysis confirmed that age, anemia, uremia, hypoalbuminemia, @PHENOTYPICFEATURE$, hyperuricemia and IgA lambda type @DISEASE$ were associated with a poor prognosis.	false
+8a6123ba87a7183441b3281656ae955766084517	The conventional statistical analysis confirmed that age, anemia, uremia, @DISEASE$, hyperglobulinemia, @PHENOTYPICFEATURE$ and IgA lambda type myeloma were associated with a poor prognosis.	false
+f31d1ce54dc4d235cdf424131f07198d6c627173	The conventional statistical analysis confirmed that age, anemia, uremia, hypoalbuminemia, hyperglobulinemia, @PHENOTYPICFEATURE$ and IgA lambda type @DISEASE$ were associated with a poor prognosis.	false
+5ec9dd341164c502ecda11dee37db52830d7e306	The conventional statistical analysis confirmed that age, anemia, uremia, @DISEASE$, @PHENOTYPICFEATURE$, hyperuricemia and IgA lambda type myeloma were associated with a poor prognosis.	false
+39f7b0fea9b5583d44a030974cbb8363a6dc480e	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; @DISEASE$; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.	has_symptom
+7c5f94c66640f0a46bbed07fc2e4d69dea97bdcf	Loss-of-function HDAC8 mutations cause a phenotypic spectrum of @DISEASE$-like features, @PHENOTYPICFEATURE$, large fontanelle and X-linked inheritance.	has_symptom
+f4a2cf66e21b8ebe6a137a1a7b2561a6dfd2384b	Phenotypic differences in @DISEASE$ patients: imprinting mutations show less frequently @PHENOTYPICFEATURE$ and hypopigmentation than deletions.	has_symptom
+836bf5efa777202fdf7343ffc2b11a36461d00c1	Phenotypic differences in @DISEASE$ patients: imprinting mutations show less frequently microcephaly and @PHENOTYPICFEATURE$ than deletions.	false
+2a5773c1f790c3ab50e701205344e6330cbaa702	Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently @DISEASE$ and @PHENOTYPICFEATURE$ than deletions.	false
+3c8067834c2b2ffb85e03e38b19e9f3ea8df633c	which causes @DISEASE$ and @PHENOTYPICFEATURE$, and a disrupted TNR due to de novo chromosomal translocation t(1; 5)(q25.1;	has_symptom
+a180a37542422de04b58f1ffe2cb012623ec2274	SLC9A6 mutations cause X-linked mental retardation, @PHENOTYPICFEATURE$, epilepsy, and ataxia, a phenotype mimicking @DISEASE$.	has_symptom
+9856ce9824fc4f5e96d42afff474f45a77cb7122	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and @PHENOTYPICFEATURE$, a phenotype mimicking @DISEASE$.	false
+d3ce0bcecd4b3271f31f8200f557ffbcaf7b9aa8	SLC9A6 mutations cause X-linked @PHENOTYPICFEATURE$, microcephaly, epilepsy, and ataxia, a phenotype mimicking @DISEASE$.	false
+613cccd1de358932a69d43aed7f79fbbe895275a	SLC9A6 mutations cause X-linked mental retardation, @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$, a phenotype mimicking Angelman syndrome.	false
+09918c7e39dcc05d130858559fbc3a5570dfe270	SLC9A6 mutations cause X-linked @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.	false
+9a7055533234026a6f00a6f6158d294a77b5bfa9	@DISEASE$ (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, @PHENOTYPICFEATURE$, and ataxia.	has_symptom
+024ef517411f6c45813690b3a7b31f469031c7ad	@DISEASE$ (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and @PHENOTYPICFEATURE$.	false
+51062b1a7c17d819331a2cfe92206be33aa9c6e2	@DISEASE$ (AS) is characterised by developmental delay, lack of speech, @PHENOTYPICFEATURE$, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia.	false
+33d203335152342dd0a62e594e1088ad944818fa	Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+fbf823e0da166acb34690b2e4bff5d8c451ded56	Angelman syndrome (AS) is characterised by developmental delay, lack of speech, @PHENOTYPICFEATURE$, a characteristic behavioural profile with a happy demeanour, @DISEASE$, and ataxia.	false
+f8d3dc756e84250ed3d5df757a8b12f0889d2ae7	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, @PHENOTYPICFEATURE$, and severe speech delay.	has_symptom
+3634263e28ae4d12046932b0868ad7dfef8edb39	Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$, seizures, @DISEASE$, and severe speech delay.	false
+0123ed2704e65781cfa787a8d3e3284b30a03a2f	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$, seizures, microcephaly, and severe speech delay.	false
+a015bdc62490951bfc6512dd8f88737f05abb3dd	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, microcephaly, and severe @PHENOTYPICFEATURE$.	false
+3acc0bfd47833b81e2abf919b1102811bed3f7d6	Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, seizures, @DISEASE$, and severe @PHENOTYPICFEATURE$.	false
+ebea1f1f9cb5931bb801d7728f4f10a7ab30f81e	@DISEASE$ is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, @PHENOTYPICFEATURE$, microcephaly, and severe speech delay.	false
+3de140adddd54634ee4dbca8f142a4a6730123c4	Angelman syndrome is a neurodevelopmental disorder characterized by global developmental delay, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and severe speech delay.	false
+2b4830b0498a4b1a1d5800ab49cc38c925ecfc42	We suggest that a defective chromosome segregation mechanism is responsible for the development of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+731b3c4ee4de4afe5b73c0454b082043b30ec11f	The face of Rett syndrome does not demonstrate marked prognathism, wide mouth, spaced teeth or striking @PHENOTYPICFEATURE$, all features of @DISEASE$.	has_symptom
+f49e60114dc81ec0d92b3d2e8094708f3749a384	However, unlike in MCPH, @PHENOTYPICFEATURE$ is postnatal in @DISEASE$ patients.	has_symptom
+d787b3cd1fb8249de6edde462c3b5e0b936331eb	The identification of UBE3A as an ASPM interactor is not surprising as more than 80% of @DISEASE$ patients have @PHENOTYPICFEATURE$.	has_symptom
+0ee18ee05b0d753b251de43889a19c7cb209d13f	@DISEASE$ is a rare neurogenetic disorder that is characterized by @PHENOTYPICFEATURE$, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity.	has_symptom
+08786d622549d5bacadbb9cfb36ffb0288692832	Angelman syndrome is a rare neurogenetic disorder that is characterized by @DISEASE$, severe intellectual deficit, @PHENOTYPICFEATURE$, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity.	false
+3f6146192401babfdb91e3540d4e0ef81ec5bd82	@DISEASE$ is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, @PHENOTYPICFEATURE$, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity.	false
+ba5b65882dc4cedf871dff2c4177ae7de0555486	Angelman syndrome is a rare neurogenetic disorder that is characterized by @DISEASE$, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, @PHENOTYPICFEATURE$ movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity.	false
+356473c2fcf784f7b6b9fe2d572522a2eba1f44c	@DISEASE$ is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, @PHENOTYPICFEATURE$ movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity.	false
+9c440013bb8f37a6c2c4684e5497639d3ba05fac	[@DISEASE$ (hypotonia, hypomentia, hypogonadism, @PHENOTYPICFEATURE$)].	has_symptom
+68ba4ac23172a1b29f7b5b49818fbcd77a33aa9f	[Willi-Prader syndrome (hypotonia, hypomentia, @PHENOTYPICFEATURE$, @DISEASE$)].	false
+403c4c35539c22b129bfe1112de2c7772dac1c6e	[@DISEASE$ (hypotonia, hypomentia, @PHENOTYPICFEATURE$, obesity)].	false
+09c13f0557e44f9eaafc5829d159ef0a60414ba0	@DISEASE$ (PWS) is a rare cause of @PHENOTYPICFEATURE$.	has_symptom
+957d340bc78837479f3c63426ea11f1f6962c299	@DISEASE$ (PWS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$.	has_symptom
+4c989cea7d66193e637d9b2dd6a52fdf9072519a	Hyperghrelinemia precedes @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+d3b3119ce77c6d67df9874c8473db0124fc49ee1	Management of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+dfc2d25d40988888e0d24ce921f62428181251d8	Letter: Pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f7972f6c5f97386e9d699ba9623df5b2dafe767c	Mechanisms of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7c4a28e7cd94308893f274c1165227cf6f947027	[Therapeutical approach of @PHENOTYPICFEATURE$ in @DISEASE$].	has_symptom
+861b1ae42c137fcd682f67e6af5bfca98c85f2a2	Nutritional intakes in children with @DISEASE$ and non-congenital @PHENOTYPICFEATURE$.	has_symptom
+87f11b7db1f5534dc5b2696255ec630c2bb99ae1	[Extreme @PHENOTYPICFEATURE$ in @DISEASE$ (PWS)].	has_symptom
+9608fa9e6b030df8cfcd5189a64ff2afee3adf9f	Association between brain structural anomalies, electroencephalogram and history of @PHENOTYPICFEATURE$ in @DISEASE$ (Hunter syndrome).	has_symptom
+78b1675667fc6b97db15a47d470cecd937f764bb	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and @PHENOTYPICFEATURE$.	has_symptom
+ce032e89676a05ca59bf7c006d1919d79f77fe97	Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and @DISEASE$.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+7b91ec4794fdad09846bf7e57115664932fd5255	Mucopolysaccharidosis type III (@DISEASE$) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+210895fff4ef7abb8b93fde2af65b94ff08509ba	A patient with @DISEASE$ associated with Hirschsprung megacolon and Marcus Gunn @PHENOTYPICFEATURE$ is presented.	has_symptom
+0cd7c117bf6a97bd5ecdf080b27e80c2851a20fd	Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and @PHENOTYPICFEATURE$ characteristic of @DISEASE$ and other acromelic dysplasias.	has_symptom
+5b9e7e0824e452d9a8f162d66bc8d04fee865e10	Moreover, mutations in specific regions of FBN1 can result in the opposite features of @PHENOTYPICFEATURE$ and brachydactyly characteristic of @DISEASE$ and other acromelic dysplasias.	false
+0faf944e54b037bbc23c6c0471be11ab577390d4	Moreover, mutations in specific regions of FBN1 can result in the opposite features of @PHENOTYPICFEATURE$ and @DISEASE$ characteristic of Weill-Marchesani syndrome and other acromelic dysplasias.	false
+64771e137430aa9b2901318d04697c9fc6d47367	@DISEASE$ could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and @PHENOTYPICFEATURE$.	has_symptom
+c57d2c1e2e6d11b93cfd3ee5082573ea319658a9	@DISEASE$ can present wwith progressive myopia in a person of short stature and @PHENOTYPICFEATURE$.	has_symptom
+7141ae5ce8763b88abb272af3624d06dcf8aeb32	Weill-Marchesani syndrome can present wwith progressive myopia in a person of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+95a6b10eeb218f74d15f60b7efb02f38903359bf	@DISEASE$ can present wwith progressive myopia in a person of @PHENOTYPICFEATURE$ and brachydactyly.	false
+44eb8d82901a943f337c2a7d187c2e63a0639028	Weill-Marchesani syndrome can present wwith progressive @DISEASE$ in a person of @PHENOTYPICFEATURE$ and brachydactyly.	false
+55b973b2a848f142e17b0c3c58c338965d2c174b	@DISEASE$ is a rare systemic connective tissue disorder consisting of brachymorphy, @PHENOTYPICFEATURE$, ectopia lentis, spherophakia and glaucoma.	has_symptom
+877b9890cceb7c8a644a018566dbe213e850f76f	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, @PHENOTYPICFEATURE$, and joint contractures.	has_symptom
+a63894a6f9a198f7cabc8a1cdd9da9a789c68651	Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4a3e26b43c5b0e6947e2647091c8252b319c985e	Geleophysic dysplasia and Weill-Marchesani syndrome are acromelic dysplasias characterized by @PHENOTYPICFEATURE$, @DISEASE$, and joint contractures.	false
+fe320ada61c472dfd2ad646f69cb4cfc84963f30	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+994d693bcd996a95f1f6024937b91a996679e3f1	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	false
+141bf129d5bfc0d9f7f28bf0ed9fc73f6390d410	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+9e55cc091fda513c41f6fe78add442d608d0bd41	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	false
+acfd50c4614d6cc58e39bc5880660457d6ddda95	@DISEASE$ comprises short stature, @PHENOTYPICFEATURE$, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	has_symptom
+29a795efad8c8d72c4066e31794194577c7bdc80	Weill-Marchesani syndrome comprises @PHENOTYPICFEATURE$, brachydactyly, microspherophakia, @DISEASE$, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	false
+cb7fd3dd987d7a306e390b2e26f602b9be367bb0	Weill-Marchesani syndrome comprises @PHENOTYPICFEATURE$, @DISEASE$, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	false
+b4f59b3af287a37333f224b66c1f644630e4d333	Weill-Marchesani syndrome comprises @PHENOTYPICFEATURE$, brachydactyly, microspherophakia, glaucoma, and @DISEASE$ is regarded as an autosomal recessive trait (McKusick 277600).	false
+febec93b7e4eeba289fb792195b20908dc8b1b12	@DISEASE$ comprises @PHENOTYPICFEATURE$, brachydactyly, microspherophakia, glaucoma, and ectopia lentis is regarded as an autosomal recessive trait (McKusick 277600).	false
+c8c9867aaf0f11dd56560ae3322259b7da00fd75	@DISEASE$ was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and @PHENOTYPICFEATURE$.	has_symptom
+09a32d37fdd505852a3bccae2057392024553ee9	The @DISEASE$ is a rare systemic connective tissue disease characterised by small stature, @PHENOTYPICFEATURE$, ectopia lentis, and spherophakia.	has_symptom
+13cbe8c77a4caad262886ddd3bbfd06afbf0112e	The Weill-Marchesani syndrome is a rare systemic @DISEASE$ characterised by @PHENOTYPICFEATURE$, brachydactyly, ectopia lentis, and spherophakia.	false
+32c5852719352d1a7dca1aa18e158322f4658031	The @DISEASE$ is a rare systemic connective tissue disease characterised by @PHENOTYPICFEATURE$, brachydactyly, ectopia lentis, and spherophakia.	false
+fc65d9b423afb5496d7384675a4f37ccac7df156	The Weill-Marchesani syndrome is a rare systemic connective tissue disease characterised by @PHENOTYPICFEATURE$, @DISEASE$, ectopia lentis, and spherophakia.	false
+c398f7844dc484b1e0839a9d4bb4aab542f260cb	@DISEASE$ (WMS) is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet (@PHENOTYPICFEATURE$).	has_symptom
+68515f4e86c389ffe0e7d481f3cae54b97d47d47	@DISEASE$ (WMS) is a rare connective tissue disorder, characterized by @PHENOTYPICFEATURE$, microspherophakic lens, and stubby hands and feet (brachydactyly).	false
+65bd79cffae53fd503242ab09b5b521c6e5fe63b	Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder, characterized by @PHENOTYPICFEATURE$, microspherophakic lens, and stubby hands and feet (@DISEASE$).	false
+ddec1e8e8a714f845eae1a0f63d38da8ba1016da	Weill-Marchesani syndrome (WMS) is a rare @DISEASE$, characterized by @PHENOTYPICFEATURE$, microspherophakic lens, and stubby hands and feet (brachydactyly).	false
+f59e54120802ea45e9bb3c92c39593d93fa16c14	We report a single case of @DISEASE$, typically characterized by progressive joint stiffness, brachiymorphy, @PHENOTYPICFEATURE$, and ectopia lentis.	has_symptom
+34cfc538806e048ce7cb9cc2063cb992c882114f	Insidious @PHENOTYPICFEATURE$ occurring under treatment in infantile @DISEASE$.	has_symptom
+3250128a3d9b17a5d74e2c44730d5834f4d3ddca	Nonsense mutations of the SPINK5 gene, which codes for LEKTI, cause @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, ichthyosis, and atopy.	has_symptom
+2079f1d9c6e20960716f34bab636c2b29689f99d	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: @DISEASE$, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	has_symptom
+69799630f1cdce4630eb54c8e21f0da7c1f56846	Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, @DISEASE$ @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+e1f79bea3130ce86ed55b37ab8db6cfd8a2e01d9	Syndromic @DISEASE$ with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+1ba9f3c1fe8c884870c2e8490bb088cb546e06e1	Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @PHENOTYPICFEATURE$ @DISEASE$ and ichthyosis follicularis atrichia photophobia syndrome.	false
+b078c90f885e25a94abd96628317a3b2b3bfeb51	@DISEASE$ ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+f84bbdfc8b7fe6e64adce37e5fd580081f27f82e	Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: @DISEASE$, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+cff2d54cbf50b594ea4fa8566684765d1e17f791	Syndromic ichthyosis with prominent @DISEASE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+16a2b50161304c3434be1ebdbd700aa502ae1f27	Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, @DISEASE$, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+02e108a057d45ad136c3bd9675673395bec49bd2	@DISEASE$ (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, @PHENOTYPICFEATURE$ and atopic manifestations.	has_symptom
+88218b6db9774669da2ea40670d11994c01dd9dc	Examples of genetic disorders with associated @PHENOTYPICFEATURE$ include Menkes syndrome, @DISEASE$, uncombable hair syndrome, trichothiodystrophy, and loose anagen hair syndrome.	has_symptom
+a8f53b4aff04753914146bc798da5f3b9a49f438	@DISEASE$ (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, @PHENOTYPICFEATURE$, and variable atopic features.	has_symptom
+97b056dde2195f0f6bb2cf27761b38f36d9fe55a	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely @PHENOTYPICFEATURE$, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism.	has_symptom
+d80951319d742f1ba3ba67af16f71cace2bfe5a5	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely @DISEASE$, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism.	false
+b492b2aeb60a62ce28ecdc7016d2775b3f1319c8	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely @DISEASE$, growth retardation, hypotonia, variable brain malformation, and @PHENOTYPICFEATURE$.	false
+d95a323f7fa668220a2459d020928681953bad04	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, @PHENOTYPICFEATURE$, hypotonia, variable brain malformation, and facial dysmorphism.	false
+ee5a4ea487d692ebaad0780641c23517ca3cace9	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, growth retardation, hypotonia, variable @DISEASE$, and @PHENOTYPICFEATURE$.	false
+444856e9b0f6f84edb5e0237c5da96135a4b8678	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and @PHENOTYPICFEATURE$.	false
+237f1380e7e7f5877a232bf1efb79375c2331208	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely delayed speech, @PHENOTYPICFEATURE$, hypotonia, variable @DISEASE$, and facial dysmorphism.	false
+213a40092ef436e543e0863a1d190dbd495cef10	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism.	false
+1512121010a26ac5964f72ace19bec0ee6dc1f72	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely delayed speech, growth retardation, hypotonia, variable @DISEASE$, and facial dysmorphism.	false
+df6052b659ece60e20c5d6329c2d213d6512e2ab	4q21 microdeletion syndrome (MIM: 613509) is a new genomic disorder characterized by intellectual disability, absent or severely @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, variable brain malformation, and facial dysmorphism.	false
+bd2a5ef682bd524615cbdc3e7709c811e7b3c3e4	We report gene localization in a family with a benign @DISEASE$ (FPF) syndrome characterized by recurrent fever associated with @PHENOTYPICFEATURE$.	has_symptom
+1e83ead2e5bb8475886e83331b09567940a3997e	Tumour necrosis factor receptor-associated periodic syndrome (@DISEASE$), a rare autosomal dominant disorder, is characterised by recurrent attacks of fever, myalgias, and @PHENOTYPICFEATURE$.	has_symptom
+a512ab5a8cf332ed0a9ad2750cba1bd407517e42	Tumour necrosis factor receptor-associated periodic syndrome (@DISEASE$), a rare autosomal dominant disorder, is characterised by recurrent attacks of @PHENOTYPICFEATURE$, myalgias, and abdominal pain.	false
+3a672c84e2b2438e210d62704956e8777df75c52	Tumour necrosis factor receptor-associated periodic @DISEASE$ (TRAPS), a rare autosomal dominant disorder, is characterised by recurrent attacks of @PHENOTYPICFEATURE$, myalgias, and abdominal pain.	false
+6dee8b2ce58bef7869c3162d99dc3da251f3d440	Tumour necrosis factor receptor-associated periodic syndrome (TRAPS), a rare autosomal dominant disorder, is characterised by recurrent attacks of @PHENOTYPICFEATURE$, myalgias, and @DISEASE$.	false
+24decc9bfa3741b2fc9009bbf54e831fb2696df2	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, @PHENOTYPICFEATURE$, myalgia, and arthralgia.	has_symptom
+5d71cbeba088ae9a42b314f49ed976418c0b5e0a	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of fever attacks associated with rashes, @PHENOTYPICFEATURE$, myalgia, conjunctivitis, chest pain, and arthralgia.	has_symptom
+1fd81cd753515864329ffcc8958519a18b8721cf	Tumor necrosis factor receptor-associated periodic @DISEASE$ (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of @PHENOTYPICFEATURE$ attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia.	false
+fea8681da14acecffcc8fab9909c6f4ac2488610	Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of @PHENOTYPICFEATURE$ attacks associated with rashes, @DISEASE$, myalgia, conjunctivitis, chest pain, and arthralgia.	false
+576f80e9df5d0084ad8f99fa449978ed2e52631a	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of @PHENOTYPICFEATURE$ attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia.	false
+77d720f8f3dd65a89aa8ce65207266ae5704ae36	Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited @DISEASE$ that is characterized by recurrent episodes of @PHENOTYPICFEATURE$ attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia.	false
+e62486ccf3b026d9cd9d8f8587a8d9af5dc38c9e	It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor ?. A patient with @DISEASE$ may present with prolonged episodes of fever attacks, @PHENOTYPICFEATURE$, severe myalgia, and painful erythema on the trunk or extremities.	has_symptom
+e748c17d95f3766dff364d85df37fbbd5b4217b4	It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor ?. A patient with TRAPS may present with prolonged episodes of @PHENOTYPICFEATURE$ attacks, @DISEASE$, severe myalgia, and painful erythema on the trunk or extremities.	false
+246d4ea356fab46fb4be1ef057c2fb7d7c813b9a	It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor ?. A patient with @DISEASE$ may present with prolonged episodes of @PHENOTYPICFEATURE$ attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities.	false
+78e3281efbffaab7353cbd93e3820bd4a50b8e02	Among them it is recognized the TNF receptor associated periodic syndrome (@DISEASE$) caused by mutations in the TNFRSF1A gene and characterized by symptoms such as recurrent high fevers, rash, @PHENOTYPICFEATURE$, arthralgia and myalgia.	has_symptom
+cc1340d2ff196607a1cf31b9aa0d10ebbc644d33	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is characterized by recurrent episodes of inflammation with fever, @PHENOTYPICFEATURE$, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema.	has_symptom
+ccecf4157e87ebf24650a097df90af3b8a2c1ee9	Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by recurrent episodes of inflammation with @PHENOTYPICFEATURE$, @DISEASE$, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema.	false
+9844c61dc89c12b2b21dc7e93c6e38b1328dc131	Tumor necrosis factor receptor-associated periodic @DISEASE$ (TRAPS) is characterized by recurrent episodes of inflammation with @PHENOTYPICFEATURE$, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema.	false
+691f44f61b43cdea263d3213efc573cb1f10d58b	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is characterized by recurrent episodes of inflammation with @PHENOTYPICFEATURE$, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema.	false
+dd968aa500ccf95a0a777f5077f3c02488ec1faa	Tumor necrosis factor (TNF) receptor-associated periodic syndrome (@DISEASE$) is an autosomal dominant autoinflammatory disorder characterized by periodic fever episodes, arthralgia, myalgia, @PHENOTYPICFEATURE$, serositis, and skin rash.	has_symptom
+ec7f669b8eabab5a4fe95bf367760c443e0a025b	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes.	has_symptom
+becfd507327116aa7b8b33b29d83f50f95845329	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @PHENOTYPICFEATURE$, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+fc9015ab3b871a9aeecd1b05435641cfbda6d921	The usual description of the B?rjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @DISEASE$, coarse facial features, long ears, @PHENOTYPICFEATURE$, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+5938559f74b5af3a35631eeee1c7e2c4257fbf9a	The usual description of the B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	false
+bcee0e44bd63b4f602e28fcf4bca9a99675934d1	The usual description of the B?rjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, @DISEASE$, coarse facial features, long ears, short stature, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	false
+39f3f6faa46e5d20d7267070fa6ba8dc9e864951	The usual description of the B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, @PHENOTYPICFEATURE$, obesity, gynecomastia, tapering fingers, and shortened toes.	false
+8603ac334b5e915cc757928585b7f75ea336330f	The usual description of the B?rjeson-Forssman-Lehmann syndrome (@DISEASE$) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, @PHENOTYPICFEATURE$, gynecomastia, tapering fingers, and shortened toes.	false
+931845832e26cc274164e6061067141af58c8f44	Contrary to initial reports, our men with @DISEASE$ had no @PHENOTYPICFEATURE$, seizures, or short stature.	has_symptom
+186ff94dca7faae827407815e474e8b5d15a0152	Contrary to initial reports, our men with BFLS had no @DISEASE$, seizures, or @PHENOTYPICFEATURE$.	false
+8337130de2ab823090ad2dd3249a490051623bef	Contrary to initial reports, our men with BFLS had no @DISEASE$, @PHENOTYPICFEATURE$, or short stature.	false
+883b545dda5a96632c0531e7faa9b8c8f468dfa6	Contrary to initial reports, our men with @DISEASE$ had no microcephaly, @PHENOTYPICFEATURE$, or short stature.	false
+b20968dc4ba8f9c34fa9d5f3e8d167f5a506371a	Contrary to initial reports, our men with @DISEASE$ had no microcephaly, seizures, or @PHENOTYPICFEATURE$.	false
+a9899ac2e43550f076e23eafe366d076508d5939	@DISEASE$ is one of the leading causes of @PHENOTYPICFEATURE$ and blindness in children.	has_symptom
+73d3041ea877b7fcee98afaa4db717597ac98e4f	The @DISEASE$ is associated with ear anomalies and @PHENOTYPICFEATURE$ in addition to other malformations.	has_symptom
+c29822cb4850f48ce6140f0f3753adf5c00cb810	The CHARGE syndrome is associated with @PHENOTYPICFEATURE$ and @DISEASE$ in addition to other malformations.	false
+99a8049930dbc6140b44ee2bc735b91a8b9058a2	The @DISEASE$ is associated with @PHENOTYPICFEATURE$ and deafness in addition to other malformations.	false
+0d3831fd45ae392f6f3c3b623e69f9a3ee82ea25	All seven prelingual profoundly @PHENOTYPICFEATURE$ children with @DISEASE$ had hypoplastic or absent auditory nerves bilaterally on MRI scans.	has_symptom
+4cd9520c67c1eb37dac4361ec527bcc6ff2e15f7	Child with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+029270ab63dbbf266f80127f2fa03fea0a38380d	CHD7 deficiency in "Looper", a new mouse model of @DISEASE$, results in ossicle malformation, otosclerosis and @PHENOTYPICFEATURE$.	has_symptom
+5c7145ace285f85342010b81f0abc383a512ec84	Ten patients with @DISEASE$ and 3 patients with CHARGE-like syndrome treated in our center due to @PHENOTYPICFEATURE$.	has_symptom
+217ec5505c9712acfcbff95de5d9e82466c9c781	@DISEASE$ is a rare, polymalformative disease, representing one of the major causes of associated blindness and @PHENOTYPICFEATURE$.	has_symptom
+091dd0f35e603878e13927cfbab6bc253fb9807a	@DISEASE$ is a rare, polymalformative disease, representing one of the major causes of associated @PHENOTYPICFEATURE$ and deafness.	false
+4659318fd17c10beecfef5cbce8ce4601180f235	CHARGE syndrome is a rare, polymalformative disease, representing one of the major causes of associated @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5de1ac21c88a97d40b29cdb5b95b684fdff4ffbe	@DISEASE$ is associated with a variety of temporal bone anomalies and @PHENOTYPICFEATURE$.	has_symptom
+028f6d0f411e85fc021db8eaf5e119d39f2d3ed7	A case study of an adolescent girl with @DISEASE$ who has profound @PHENOTYPICFEATURE$, colobomas, and moderate cognitive delay is presented.	has_symptom
+67794b9d6e54b24eb226e62d71777ea936ef3ae8	The study sample included 31 children presenting with different degrees of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+1faebeee9938b3ef9a2ac5e2065e891bbe486d4a	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, short stature, osteopoikilosis, weight deficiency, and learning disabilities.	has_symptom
+b1763310fe4b5c8a74fa92bf51484def14f5ab6b	The 12q14 microdeletion syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$, osteopoikilosis, weight deficiency, and learning disabilities.	false
+aa85f7b3b5c21531cd9001bed0f00905ffe5ca4b	The @DISEASE$ is characterized by microcephaly, @PHENOTYPICFEATURE$, osteopoikilosis, weight deficiency, and learning disabilities.	false
+124f494e6ad77cb20dbde423985166685dbde729	Until she began developing the symptoms of Kwashiorkor, including general fatigue, edema of the @DISEASE$ and extremities, @PHENOTYPICFEATURE$, alopecia, and weight loss, she had been leading a normal life post-gastrectomy.	has_symptom
+3bf9aa5216cba5ba3c29d2377e5233cf554496e2	Until she began developing the symptoms of Kwashiorkor, including general fatigue, @PHENOTYPICFEATURE$ of the @DISEASE$ and extremities, anemia, alopecia, and weight loss, she had been leading a normal life post-gastrectomy.	false
+06a479490ec3581e8f5834312deb17f888880052	Until she began developing the symptoms of Kwashiorkor, including general fatigue, @PHENOTYPICFEATURE$ of the face and extremities, @DISEASE$, alopecia, and weight loss, she had been leading a normal life post-gastrectomy.	false
+08d83cd5706fd779c6fabe7bc6fac61c45c1900a	The animals restricted in protein developed the classical signs of protein deficiency--reductions in plasma albumin, a mild @PHENOTYPICFEATURE$, accumulation of fat in the liver, and, in a few cases, @DISEASE$ edema.	has_symptom
+c1c6274d9e16b7ec22938be81061e01d9589e66f	Bilateral secondary @PHENOTYPICFEATURE$ and systemic hypertension in @DISEASE$.	has_symptom
+8cab89c431011bbdf48d84169f8e3a605b9ff2e1	It may be isolated or occur as part of a hereditary systemic disorder, such as @DISEASE$, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant @PHENOTYPICFEATURE$-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia.	has_symptom
+b0b55e7562b729581bc7de5d0c07d788bcd79516	It may be isolated or occur as part of a hereditary @DISEASE$, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+362c1d67901bcb6cdfd2b911d0784d0bc3f42cfb	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-@DISEASE$, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+154723d7c23d2b4b79a1055807f62a76550eb9c4	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant @DISEASE$-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+64fcc4b3e8fde46303ee78518e7791711142de54	It may be isolated or occur as part of a hereditary systemic disorder, such as @DISEASE$, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+3e3f7ce973bbe2001fb9a307faf64a90fe9f9698	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of @DISEASE$, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+361334546d1f38b4a8ade31b711c0187c9b75f15	Obese subjects with @DISEASE$ (HFI) had a poorer performance than subjects with either HFI alone or @PHENOTYPICFEATURE$ alone.	has_symptom
+a07e84fffc953d0430cf70bcabeba4a6123ca468	[On a case of arterial hypertension with @PHENOTYPICFEATURE$ and @DISEASE$ (Morgagni-Morel syndrome)].	has_symptom
+91d859b3c677f4aa230a5d881a233c77acc59fd8	A case of @DISEASE$ with progressive depression in frontal bone, headache, transient monoparesis, @PHENOTYPICFEATURE$; imbalance, neuropsychiatric symptoms and recurrent disc prolapse with absent right radial pulse is discussed.	has_symptom
+16641fb45310d8ccd9e91a000f044b29aa2aa5ad	In 1719 Morgagni described a condition, today known as @DISEASE$ (HFI), as one sign within a triad consisting of HFI, virilism, and @PHENOTYPICFEATURE$.	has_symptom
+5be2465bff7eddcedc240b18a1a422f8a74b3c4a	Manual dexterity test in relation to @PHENOTYPICFEATURE$ and @DISEASE$ in elderly women.	has_symptom
+32f5d9b89634280eb3a404daa8d07b1f148c714c	In 1765 Giovanni Morgagni described a syndrome consisting of @DISEASE$ (HFI), @PHENOTYPICFEATURE$ and hirsutism.	has_symptom
+879052dc360e67521743d2b26d3ac1b30aa653f8	@DISEASE$ was first identified in 1719 by Morgagni as a symptom of a more generalized syndrome characterized by virilism and @PHENOTYPICFEATURE$.	has_symptom
+735160e17baf666ac8e894d4fa7cf9268ca6deec	A 4-year-old girl suffering from left @PHENOTYPICFEATURE$ and orbitofrontal deformity secondary to @DISEASE$ was treated surgically.	has_symptom
+741ee5467323e7a6302c82935087966189cfe0e2	The most frequent neurological complication of craniofacial @DISEASE$ is @PHENOTYPICFEATURE$.	has_symptom
+69566777952af9c48e0ce748156b0a88a9e3b9b2	We report two cases of craniofacial @DISEASE$ which presented with acute @PHENOTYPICFEATURE$.	has_symptom
+524a9051172a2db29835e2e2c64ce2970337f2d0	The etiology of @PHENOTYPICFEATURE$ in orbital @DISEASE$ is still unclear, with many theories proposed in recent literature.	has_symptom
+18ffe926ff74e697e8ce54df68dcc6c3f3f3dadc	@DISEASE$ should be considered in the differential diagnosis of slowly developing proptosis with associated @PHENOTYPICFEATURE$ in young adults.	has_symptom
+6af0a315af0500b03f06c80c87a898913584c5fb	Compressive optic neuropathy should be considered as a leading cause of @PHENOTYPICFEATURE$ in patients with craniofacial @DISEASE$.	has_symptom
+37c047b07b983f8f6e9cc5883937b960233f6f4b	Reversible @PHENOTYPICFEATURE$ caused by @DISEASE$.	has_symptom
+d8613f49c25c8b9c77719b9d2c0bca5e0dbab507	Patient demographics, major signs and symptoms, occurrence of @PHENOTYPICFEATURE$, pattern of bone involvement, and radiographic appearance of @DISEASE$ were studied.	has_symptom
+37c8662df3fef3d720e69d1e473ee248f6ad8ad4	An unusual case of acute monocular @PHENOTYPICFEATURE$ secondary to @DISEASE$ is presented.	has_symptom
+8d05d649dc59b4bd1ef3cfefef94817f8bdaff99	Cranio-orbital @DISEASE$ usually causes proptosis, @PHENOTYPICFEATURE$, ocular motility impairment and cosmetic deformity.	has_symptom
+3ba49322c5eccb46a110b71586a3fb083c7218ce	Patients with @DISEASE$ (MIM #167200; PC-1) have nail defects (onchyogryposis), @PHENOTYPICFEATURE$, follicular hyperkeratosis and oral leukokeratosis.	has_symptom
+4b948c41090ca3e83305272cbb3eebe90a74ea96	@DISEASE$ is an infrequent genodermatosis, characterized by nail dystrophy, @PHENOTYPICFEATURE$, follicular keratosis and leukoplakia.	has_symptom
+7e0851e1b4fd9caf191cf9838f4d77fdac21b0eb	This autosomal dominant condition is not similar to the two reported types of @DISEASE$, because nail lesions, @PHENOTYPICFEATURE$ and hyperhidrosis, follicular keratosis, and oral leukokeratosis were not observed.	has_symptom
+acad4a7fa2af4e9a4c61543ca0ccbfad32c12aaa	This autosomal dominant condition is not similar to the two reported types of @DISEASE$, because nail lesions, palmoplantar keratosis and @PHENOTYPICFEATURE$, follicular keratosis, and oral leukokeratosis were not observed.	false
+d407d3874dd7daed1cb1741540e52734bac3a7eb	This autosomal dominant condition is not similar to the two reported types of pachyonychia congenita, because nail lesions, @DISEASE$ and @PHENOTYPICFEATURE$, follicular keratosis, and oral leukokeratosis were not observed.	false
+b5aed340fd475abb1ab6c497327089a6041bb88d	@DISEASE$ (PC) is a rare, inherited disorder of keratin filaments characterized by @PHENOTYPICFEATURE$, keratoderma, and extreme pain.	has_symptom
+11c21ce7c6b8984b81770acd6395a03454b6e1c6	@DISEASE$ (Jadassohn-Lewandowsky Syndrome) is a rare autosomal dominant disorder characterized by nail dystrophy, @PHENOTYPICFEATURE$, leukoplakia of the mucosa of the upper respiratory tract and anus, follicular keratoses especially about the knees and elbows, and palmar and plantar hyperhidrosis.	has_symptom
+503b9b5ca46c83d851d2bfe45ce16a0454bf59e3	@DISEASE$ (Jadassohn-Lewandowsky Syndrome) is a rare autosomal dominant disorder characterized by nail dystrophy, hyperkeratosis of the palms and soles, leukoplakia of the mucosa of the upper respiratory tract and anus, follicular keratoses especially about the knees and elbows, and palmar and plantar @PHENOTYPICFEATURE$.	false
+2bb6b1fe573c6c05234057a22b77de755eb2c091	Pachyonychia congenita (Jadassohn-Lewandowsky Syndrome) is a rare autosomal dominant disorder characterized by nail dystrophy, @DISEASE$, leukoplakia of the mucosa of the upper respiratory tract and anus, follicular keratoses especially about the knees and elbows, and palmar and plantar @PHENOTYPICFEATURE$.	false
+8beafe01a0fb729d2bf71a12f325644ee8ec11b4	@DISEASE$ (PC) type 2 is a rare inherited genetic disease characterized by hypertrophic nail dystrophy, @PHENOTYPICFEATURE$ and multiple pilosebaceous cysts.	has_symptom
+7f8c97c8bac4a8756e5a5ff89fc6ddc445a378ab	Here, a 62 year-old woman who presented with classical features of @DISEASE$ and progressive bilateral dyschromatopsia and reported @PHENOTYPICFEATURE$.	has_symptom
+bb58f4ace1d65bbc947e708e43fe8fc55a5a617e	Patients with @DISEASE$ in Benin City, Nigeria have @PHENOTYPICFEATURE$ and blindness due to delay in presentation and the use of traditional eye medications.	has_symptom
+84a30f790a4936ac768342d85c96bb324b0168cd	Patients with Marfan's syndrome in Benin City, Nigeria have @DISEASE$ and @PHENOTYPICFEATURE$ due to delay in presentation and the use of traditional eye medications.	false
+ed8bcb5065faed3d847beaa908f6c8fd52813383	Patients with @DISEASE$ in Benin City, Nigeria have visual impairment and @PHENOTYPICFEATURE$ due to delay in presentation and the use of traditional eye medications.	false
+13be95fb4488016cb436f879962a0d86e25e24c0	Further research on the neuropsychological aspects of @DISEASE$ is needed, using larger patient groups and more adequate control groups such as non-affected siblings and matched controls with similar @PHENOTYPICFEATURE$.	has_symptom
+2e2e78d6b7a9ff53b8b1be99af4b5830eff8f17b	Moreover, adequate preparation for a difficult airway is essential, and the Airtraq(?) device may be useful for intubating patients with @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+a8b68b4b56d5209305fbdbd87f2418e138aab3aa	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	has_symptom
+0b30efdc7d8eeaba1e9eca1135521fef1f99e445	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+3eb77e384d878b78210a633a1e0b6f89eb81031a	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+41ce2964798a5f5dc1260f77acda9f47a1b64de7	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+816629866ea58167bc65166771794db884d90405	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @DISEASE$, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+1cabe4e96f482e13b2ab55a028c75ac9823d6fd1	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+544440f8a13da135617b48f6fd7d000613e91683	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+011202acec2dc5d528b13476f3cc4afa5dd9d985	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+64c2855b54229611624938a39b3820b9db5939ae	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @DISEASE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+d1a1833be3e43c122d9684786ad5e24a975d5d6d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @DISEASE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+cc81f0c83338c7ea2fbfec53214c8d518026ebac	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, @DISEASE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+b31cb889588c7d5a1385c9575bbe538a989c6f6f	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @DISEASE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+42b68997ec80a0aed6ccd4da61ea807a00bdcaa5	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+34c58378689ad0853ba8b6a02a9b906433156b01	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+93b18e0722299e8585cda16a1146fa55e7476f4e	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+2cc08552bcce133b8ed4b78824f448d629097675	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ff0c9257d25d2c0555b05cc31fdbf696b498fd5d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+99d28c006fd2cb8eb611c476dcccfc099e0103cf	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @DISEASE$, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+ca3aa76cc204a0bac294453f3044773fca0de6b8	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+404aa86ed75628411cfe1192310d073a3ea4e21b	@DISEASE$ (KD) is a rare autosomal recessive entity characterized by shortening and bowing of the limbs, skin dimples, abnormalities of methaphysis and ribs, a short trunk, a narrow thorax, neonatal respiratory distress, platyspondyly, and facial dysceptism with @PHENOTYPICFEATURE$, midfacial hypoplasia, and a broad nasal bridge.	has_symptom
+e2632b58dd6ab84dc7cb71d8aedd6bfdfe02a463	@DISEASE$ (acrocephalosyndactyly type III; SCS; OMIM #101400) is an @PHENOTYPICFEATURE$ craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities.	has_symptom
+9fc9e44ec988c45df94f924f7342ec616018b570	Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an @DISEASE$ craniosynostosis syndrome characterized by craniofacial and mild @PHENOTYPICFEATURE$.	false
+243d4cf693d235bbffd2b664b371e961f5207318	Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant @DISEASE$ characterized by craniofacial and mild @PHENOTYPICFEATURE$.	false
+994e61947ccfa53effd437a759fdbe7472c358d2	@DISEASE$ (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild @PHENOTYPICFEATURE$.	false
+d1bab6c2cb219f6d4b3e3f1fb29ff332a1f9d3ae	@DISEASE$, characterized by generalized gigantism with normal endocrine studies has rarely been reported with ocular abnormalities and never with @PHENOTYPICFEATURE$.	has_symptom
+ab76c76ceb1f24f41be287e230c5c1ab6540ed43	Cerebral gigantism (@DISEASE$) and @PHENOTYPICFEATURE$.	has_symptom
+98c004ba69966d5f7ccea78707fd8c93fdbac7d3	A five-year-old girl with @DISEASE$ (Sotos' syndrome) and @PHENOTYPICFEATURE$ is described.	has_symptom
+efff57d35cd76b6f9e918895da45b1597275fe6c	A five-year-old girl with cerebral gigantism (@DISEASE$) and @PHENOTYPICFEATURE$ is described.	has_symptom
+2aff5d271dabf2925aa727b2503ad4145feeb69e	17 children with @PHENOTYPICFEATURE$ (12 with idiopathic hypopituitary dwarfism, 2 with @DISEASE$ and 3 constitutionally short) were studied for three days following a single intramuscular injection of human growth hormone.	has_symptom
+6817023d96492d75c7a9f2d2c11b698723f9b4bc	Uterus size and ovarian morphology in women with isolated growth hormone deficiency, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0bc88335554de4c9ea6b9c280d36d3fc0cd07396	The most frequent anterior @DISEASE$ was central adrenal insufficiency, followed by central hypothyroidism and @PHENOTYPICFEATURE$.	has_symptom
+5fac609e0b1527e8013757207616de7fad1f91e8	Patients with microadenoma included 39.5% prolactinomas, 18.6% cushing disease, 14% acromegaly, 4.7% @PHENOTYPICFEATURE$ and 2.3% @DISEASE$.	has_symptom
+458d192267f957729df552aed23c4990ea165c25	No other mutation was present in 27 genes related to @PHENOTYPICFEATURE$, @DISEASE$ and optic nerve malformation.	has_symptom
+3d8aafc1940a6498cc3950cc6362189865d25a2f	An additional phenotype of @DISEASE$, with anterior pituitary hypoplasia and @PHENOTYPICFEATURE$, has been reported in patients carrying SOX2 alterations.	has_symptom
+d2a38a2dc5f0198236ff8f32419a828a25b7c21d	@DISEASE$ is associated with osteoporosis and osteopenia especially when @PHENOTYPICFEATURE$ is present.	has_symptom
+a445d431306822c98eb8d58006dfbf698106424a	Patients with acromegaly (caused by growth-hormone-secreting pituitary adenomas) are at increased risk of @DISEASE$, in particular @PHENOTYPICFEATURE$, before and after multimodal therapy.	has_symptom
+abbecc4ed472d7cad596971a457fdba1691b07eb	Evaluation of the sellar area was performed with magnetic resonance imaging in 101 patients (age range 0.8-27 years) with @DISEASE$, isolated diabetes insipidus, @PHENOTYPICFEATURE$, and central precocious puberty.	has_symptom
+a774637e4fa0892d6e9e217bfea0deb06d7e37b0	The most common @DISEASE$ involved the pituitary-gonadal axis; 54% of the total subjects had @PHENOTYPICFEATURE$.	has_symptom
+eb3cffd89e7e1b884b0d49230592adaae372fc01	Among the GD patients, there were 4 with anosmia (Kallmann's syndrome, KS), 6 with idiopathic @DISEASE$ (HP) and 3 with isolated @PHENOTYPICFEATURE$ (HH).	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+a279e1f3f46c0f3acb7bc2330b45cbe01e2ba88f	Somnolence and @PHENOTYPICFEATURE$ are prevalent in @DISEASE$ patients.	has_symptom
+6c0b6a4f49bf6a5b576a2129eb3e063797a8c546	Hypothalamic @PHENOTYPICFEATURE$ after @DISEASE$: mechanisms, diagnosis, and treatment.	has_symptom
+46204ff3eac839db3378b2af0494f0a74e516ef4	Detailed assessment of hypothalamic damage in @DISEASE$ patients with @PHENOTYPICFEATURE$.	has_symptom
+ac631d094c77203a1cd4aea17fa6460ef11ded72	Gastric bypass surgery for treatment of hypothalamic @PHENOTYPICFEATURE$ after @DISEASE$ therapy.	has_symptom
+8900c95de5d15c01809b930a746af2d45ee377e4	Patients with childhood-onset @DISEASE$ (CP) often suffer from @PHENOTYPICFEATURE$.	has_symptom
+64588c511544fb7a54c25491b79a4f4132c2050c	@DISEASE$ and hypothalamic @PHENOTYPICFEATURE$ in children.	has_symptom
+abd82dac0026effa5f8bb11dea26eab114c1fead	Functional neuroimaging in @DISEASE$: a useful tool to better understand hypothalamic @PHENOTYPICFEATURE$?	has_symptom
+f1dd30c2d15b60a08a694d3f9bb74ad3c1c49f29	Hypothalamic @PHENOTYPICFEATURE$ is a devastating consequence of @DISEASE$.	has_symptom
+eca3856818e2db9ef0603742455652a4b2f7559b	Nevertheless, the aetiology of @PHENOTYPICFEATURE$ in @DISEASE$ is not yet fully understood.	has_symptom
+85285fc69988dae22e96d4dc87a0974c07a01f84	This is one of only a few reports of severe @PHENOTYPICFEATURE$ in an adult due to @DISEASE$.	has_symptom
+3f80c592691934cec8f99946f2d709dd6ec29022	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, @PHENOTYPICFEATURE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	has_symptom
+48d6d55a0919efd459f350ba64306cdd7c2cd7a0	We describe 2 patients with a partial @DISEASE$ (facial dysmorphism, hypoparathyroidism, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	false
+e4e90cb5f408f75dd1c0c33c8b60aa0550d4e65b	We describe 2 patients with a partial @DISEASE$ (@PHENOTYPICFEATURE$, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+afdf77279188f4c784ac1642aa607d06a5818740	We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, @DISEASE$, renal agenesis, @PHENOTYPICFEATURE$) and a rearrangement of chromosome 10p.	false
+8099b0eadb5638fc9c439814c1da930f6a9d98bc	We describe 2 patients with a partial DiGeorge syndrome (@PHENOTYPICFEATURE$, @DISEASE$, renal agenesis, mental retardation) and a rearrangement of chromosome 10p.	false
+70089cf7fe6df485cad3bf97dd9277ea3290383c	DiGeorge (@DISEASE$, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, @PHENOTYPICFEATURE$, T-cell immunodeficiency and facial dysmorphism.	has_symptom
+67f88b1bb26588cd7dae6d39afefcbed97e91676	DiGeorge (@DISEASE$, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism, T-cell immunodeficiency and @PHENOTYPICFEATURE$.	false
+6a1c2bac3b927ded19f1e22ac6242c1293e16f08	DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b7467828c17e31811990967f2dd4baa2cb33581e	DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, @DISEASE$, T-cell immunodeficiency and @PHENOTYPICFEATURE$.	false
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+a2e9c39d39a522bea64d6b11199f3a54b1502452	results in a spectrum of disorders, including DiGeorge syndrome (@DISEASE$) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and @PHENOTYPICFEATURE$.	has_symptom
+5f8f8305104847696dfb316f96f0acf84fdffc8b	results in a spectrum of disorders, including @DISEASE$ (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and @PHENOTYPICFEATURE$.	has_symptom
+edb55bbe6471fef2aee919cf6f3877ce5484e55e	Complete @DISEASE$ is characterized by athymia, congenital heart disease, and @PHENOTYPICFEATURE$.	has_symptom
+b7ff8e6f131992b32cae9ca2a34a49984a44cbfb	@DISEASE$ was diagnosed in an infant who had an interrupted aortic arch, @PHENOTYPICFEATURE$, and low T lymphocyte numbers.	has_symptom
+7944d537e9021233e135ecc09ddfe4ab7bf9eac9	Postnatally, the patient presented with seizures, hypocalcemia, @PHENOTYPICFEATURE$ and thymic aplasia and diagnosed as @DISEASE$.	has_symptom
+bb824cb885dcbb36f8a6f951c014491930251e0d	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+0fecc552dc1f150e8a39e5019fc01664b24f482b	Postnatally, the patient presented with @PHENOTYPICFEATURE$, hypocalcemia, @DISEASE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+261d45696d9a713a7c8c7c582cceba34c1bbbbdb	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, hypoparathyroidism and thymic aplasia and diagnosed as @DISEASE$.	false
+c386c6d54e111628d4d1a2be0ea3a773e849997d	Postnatally, the patient presented with seizures, @PHENOTYPICFEATURE$, @DISEASE$ and thymic aplasia and diagnosed as DiGeorge syndrome.	false
+0cea1a1839ab8d13dc39524e61b7e60c8b9785eb	Adult onset @PHENOTYPICFEATURE$ in a patient with psychiatric illness: a 71 years delayed diagnosis of @DISEASE$.	has_symptom
+d308fe78411d79b7e4161ba1014f1c94121238cc	[Thymus aplasia and hypoplasia with @PHENOTYPICFEATURE$, heart and vascular abnormalities (@DISEASE$)].	has_symptom
+e5e5eee1101f8a87f4261db9257725a2bfac6ae1	[Thymus aplasia and hypoplasia with @DISEASE$, heart and @PHENOTYPICFEATURE$ (Di-George syndrome)].	false
+1cc68426d733fcd1c5cfa1fab8a96726cbbc243b	[Thymus aplasia and hypoplasia with hypoparathyroidism, heart and @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+08312390d61a69b66778c64493e3759943cd1462	@DISEASE$ is characterized by hypoplasia or atresia of the thymus and parathyroid glands resulting in T cell-mediated deficiency, hypocalcemic @PHENOTYPICFEATURE$, and conotruncal cardiac defects.	has_symptom
+2956cc84cb9cf074784dc1949bf82a445253a2dd	DiGeorge anomaly is characterized by hypoplasia or atresia of the thymus and parathyroid glands resulting in T cell-mediated deficiency, @PHENOTYPICFEATURE$ @DISEASE$, and conotruncal cardiac defects.	false
+77e1f6da67ef97fa5bd0f2a223446512deaae0ca	@DISEASE$ is characterized by hypoplasia or atresia of the thymus and parathyroid glands resulting in T cell-mediated deficiency, @PHENOTYPICFEATURE$ hypoparathyroidism, and conotruncal cardiac defects.	false
+4773838af6d347a591488fbe209ed51bb8ffd750	@DISEASE$ (EDSFS) (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, @PHENOTYPICFEATURE$, abnormal hair growth, nail dystrophy, and occasionally defective sweating.	has_symptom
+8ddf32046ad0176f56eb8ffa3b3762c91b90e8c7	@DISEASE$ (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, @PHENOTYPICFEATURE$, abnormal hair growth, nail dystrophy, and occasionally defective sweating.	has_symptom
+4f06ae71f808c512e67bdd5fdeaaed3e6735e45a	We describe two boys with curly hair, @PHENOTYPICFEATURE$ and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (@DISEASE$) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease.	has_symptom
+2b9e3c10589e3b0c22c819f498ffa5960d6cb93e	We describe two boys with curly hair, @PHENOTYPICFEATURE$ and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with @DISEASE$ (McGrath syndrome) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease.	has_symptom
+abae900c6ba7b0ab484b68c7a82112e36adb52ac	A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of @DISEASE$ or Stickler syndrome type 2. Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, @PHENOTYPICFEATURE$.	has_symptom
+370e54429a70c97f7bc5cc1b665b059ff16e78d5	A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2. Key words: @DISEASE$, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, @PHENOTYPICFEATURE$.	has_symptom
+0b8e4369f7a80eb2d6bdf733402dbff52ae6456c	@DISEASE$ is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and @PHENOTYPICFEATURE$, and is associated with splicing mutations in COL11A1.	has_symptom
+47c8b87c5b5c55518ce42ceecd5eb20c630f258f	Marshall syndrome is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, @DISEASE$, and cataracts, and is associated with splicing mutations in COL11A1.	false
+9810cd5f145afedb5baebf5737117bbdb859ef92	@DISEASE$ is a dominant disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+f18a2698a9ad66eac0187619eb3af0bd3100ad22	Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, myopia, and @DISEASE$, and is associated with splicing mutations in COL11A1.	false
+1fd27ed2b5e4a3273d21bf48b97cbac59e4481ff	@DISEASE$ is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+b016831a7e6aa61141a75e3eb24cfd3861278c11	Marshall syndrome is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, myopia, and @DISEASE$, and is associated with splicing mutations in COL11A1.	false
+7a8dddb92e112c2e072e7678063a20cadd299f74	Marshall syndrome is a dominant disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, @DISEASE$, and cataracts, and is associated with splicing mutations in COL11A1.	false
+a84e0f505a29d454b4c09aa6f53f6353fb45ff7b	@DISEASE$ (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, @PHENOTYPICFEATURE$ and multiple congenital anomalies.	has_symptom
+a0608a5eb6b4bd5fd2813fea73b850778051ef1d	Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical @PHENOTYPICFEATURE$, @DISEASE$ and multiple congenital anomalies.	false
+7a045c14100639a2bda6d8dd6b4f353a778f595e	@DISEASE$ (CdLS) is a clinically heterogeneous disorder characterized by typical @PHENOTYPICFEATURE$, cognitive impairment and multiple congenital anomalies.	false
+dffbe65711ff09536097580c84db1954f7faf5c6	Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical @PHENOTYPICFEATURE$, cognitive impairment and multiple @DISEASE$.	false
+7b7dab8a2ae34ad2330f4e711c2dea8fad471f49	@DISEASE$ (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and @PHENOTYPICFEATURE$, limb malformations and multiple organ involvement.	has_symptom
+7796ee87f7b79f83c8e14b046a3d48c551ab502d	@DISEASE$ (CdLS) is a dominantly inherited disorder characterized by @PHENOTYPICFEATURE$, growth and cognitive impairment, limb malformations and multiple organ involvement.	false
+8d8166ef5c8cd1c1f7e9c8a0f1ed72421e7c8b22	Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by @PHENOTYPICFEATURE$, growth and @DISEASE$, limb malformations and multiple organ involvement.	false
+9875cd0dbe339b4dd1f6c54d5a1840ead54c12e0	@DISEASE$ (CdLS) is a multisystem developmental disorder characterized by growth retardation, @PHENOTYPICFEATURE$, external and internal structural malformations, and characteristic facial features.	has_symptom
+096c1298cb22409a992733b906ca8d08f8bff7c5	Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, external and internal structural malformations, and characteristic facial features.	false
+5a2fe346abba6ec37421496dafe847fa708776ca	@DISEASE$ (CdLS) is a multisystem developmental disorder characterized by @PHENOTYPICFEATURE$, cognitive impairment, external and internal structural malformations, and characteristic facial features.	false
+beb480ff4a5bd311d2d327bb33769d613c1c81b9	@DISEASE$ (CdLS) is a rare disease characterized by @PHENOTYPICFEATURE$, multisystemic alterations and premature aging.	has_symptom
+2492f3bed7488ec6b8cf6c8e18a05eebba3e0b73	@DISEASE$ (CdLS) manifests facial dysmorphic features, growth and @PHENOTYPICFEATURE$, and limb malformations.	has_symptom
+f2ef282f1ec4956b5bcaf7f097a1a2b99c3c3be7	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @PHENOTYPICFEATURE$, hypotonic diplegia, and hypogenitalism.	has_symptom
+ccf8375c5474288d5cba337eb01e074eedd3aea9	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+a15632efea705e7e41e4b1451dee5e825fb5dfc1	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+07fd0f86cf2e435faf1604d9c38ef209b9e01569	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+549a01e066376cd06bb9cf97733c795105092664	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, @DISEASE$, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+f0e5dd178855d24b7170aeb5b7af87367330d7ff	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+6d33d56fd53106a0a1b60b07316f8728c1701f61	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, @DISEASE$, hypotonic diplegia, and hypogenitalism.	false
+f24dad9c9e06daba3a572043d9982649a9675b87	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+25edccebfc3e2458e2b657bbfdf005658298cbd7	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+41f1d5c60376bae58b6907901a73dafb81ab1038	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+229336769bc96c19e42a1bbabbb4a1a533fc4650	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+96ecfef978fffdfd49d36da7e34c3c9f207dd8d5	MICRO syndrome is an autosomal recessive @DISEASE$ consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+2b46380bfcafeff4d732010217091ce140b4e0a4	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, @DISEASE$, microcornea, cataracts, optic atrophy, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+37cdf381b9c7c8eaef0cee0221b4f3edae017078	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @PHENOTYPICFEATURE$, @DISEASE$, hypotonic diplegia, and hypogenitalism.	false
+9bf32cb843db1fb499457d4fdbe7fdb194d85654	MICRO syndrome is an autosomal recessive syndrome consisting of congenital @DISEASE$, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+ec27519991ae3cd66b0e1adf4c613adae4198a89	@DISEASE$ is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, @PHENOTYPICFEATURE$, optic atrophy, severe mental retardation, hypotonic diplegia, and hypogenitalism.	false
+1142e599eda4442f1de373a5a3db1dc079959c58	Recently, mutations in p130 were found to cause @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+993aa86d4563264bdd91f001d95096baf935c65e	In this review, we discuss how studies in yeast models have already resulted in significant insights into the understanding of neurodegenerative disorders that include prion disease, Parkinson's disease, polyglutamine expansion disorders, Friedreich's @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+d1945d7d67dde2ee365d232723476c2e73d4327d	This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+98e632d71fc8abff6a53b3d42036007378553944	Previously we have treated Friedreich's @PHENOTYPICFEATURE$, while presently we are describing in detail the neuronal ceroid lipofuscinoses, among them @DISEASE$.	has_symptom
+9204217ce33fb2e03e8506c598ca59967f5ce295	@DISEASE$ (WS1) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, abnormal iris pigmentation, and congenital hearing loss.	has_symptom
+322c1d2a0cd315f3f9e7f0a8182fd0f3b7ee0434	Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by @DISEASE$, abnormal iris pigmentation, and @PHENOTYPICFEATURE$.	false
+757b2b2f591575e28311f798ce36fe30b716b19a	Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9f50838f1d5f001a1516e91af52b00d9b2a07970	@DISEASE$ (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and @PHENOTYPICFEATURE$.	false
+d6d662c954393c308c489282b20e7c1a59f2a422	Meier-Gorlin syndrome (ear, patella and @PHENOTYPICFEATURE$ syndrome) is an autosomal recessive @DISEASE$ syndrome characterized by absent or hypoplastic patellae and markedly small ears???.	has_symptom
+3a83998e672823c18ced89a977578fc4acb3b0ca	@PHENOTYPICFEATURE$ and psychopathological symptoms among children with @DISEASE$.	has_symptom
+cee7b0308a25a77567870ef04b906bc4d6eee033	Children treated for @DISEASE$ demonstrate a variety of @PHENOTYPICFEATURE$ in addition to white matter and hippocampal neuropathology.	has_symptom
+14fec8c3f6160cf427024f9d8f4f8c6cb03da501	Although characterized by @PHENOTYPICFEATURE$, mental retardation, and loss of motor skills, the first presenting symptom of @DISEASE$ is vision loss.	has_symptom
+b2da5bf199f8e4aceed8073b447d5d31ee40ccf8	Although characterized by seizures, @PHENOTYPICFEATURE$, and loss of motor skills, the first presenting symptom of @DISEASE$ is vision loss.	false
+79d04ae8387ebe1fb5f3261574ee3adb83f964d9	Although characterized by @DISEASE$, @PHENOTYPICFEATURE$, and loss of motor skills, the first presenting symptom of Batten disease is vision loss.	false
+f92c985bd1b186ee7c43ff19783958a965458ae7	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	has_symptom
+77db78acf4c3553cd860169c444228f4716d1946	Juvenile neuronal ceroid lipofuscinosis or @DISEASE$ (JNCL) is a neurodegenerative disorder characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline and early death.	has_symptom
+6ed64e3eaa6c828ec37283380d60f9b6600db1e9	Juvenile neuronal ceroid lipofuscinosis or @DISEASE$ (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	false
+6a53844615a1e97b404253002530080abd396c1a	Juvenile neuronal ceroid lipofuscinosis or Batten disease (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, cognitive decline and early death.	false
+106bb159f3d00f21a21808c1534c6a1f988039ae	@DISEASE$ or Batten disease (JNCL) is a neurodegenerative disorder characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline and early death.	false
+1fd21aaaba1400522feaf094b0eddc821bb89136	CLN3-@DISEASE$ is a rare, autosomal recessive disorder involving @PHENOTYPICFEATURE$, visual, motor and cognitive decline, and premature death.	has_symptom
+8f398f55cce50bea0caa9d851e7d4f2382a669c2	This may be important in understanding @PHENOTYPICFEATURE$, neurodegeneration, and premature death in human @DISEASE$.	has_symptom
+89642b5f043d2f844229c9ebbf27da868380b259	One of the characteristic manifestations of chronic neuronal lipofuscinosis (@DISEASE$) is a marked predisposition for @PHENOTYPICFEATURE$.	has_symptom
+5a5e35d829f48247dff0c4da4e85a97728e6045e	To evaluate @PHENOTYPICFEATURE$ phenomenology, treatment, and course in individuals with @DISEASE$ (JNCL).	has_symptom
+ab54f8ab0fecd6354074d9bcc4dd8e174df9e5ef	Hallmarks of @DISEASE$ include cognitive and motor decline, @PHENOTYPICFEATURE$ and blindness due to retinitis pigmentosa.	has_symptom
+0c3b661cd18aa6f36656fb59c1bac4bd6488d811	Hallmarks of Batten disease include cognitive and motor decline, @DISEASE$ and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	false
+d4d8a242b39497c00b23d9cc797e150c65f38655	Hallmarks of Batten disease include cognitive and motor decline, seizures and @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+098181a14b690661433583a5f7ca0dec9f138787	Hallmarks of @DISEASE$ include cognitive and motor decline, seizures and @PHENOTYPICFEATURE$ due to retinitis pigmentosa.	false
+a1d502f9568c5184ac95a8888aeb5b2334bb25bd	@PHENOTYPICFEATURE$, depression and dementia in teenagers with @DISEASE$.	has_symptom
+1efdb70057113c2dcc1991e0074649a741e0dd01	@DISEASE$ is characterized by blindness, @PHENOTYPICFEATURE$, cognitive decline, and early death.	has_symptom
+2d561ff8412f659c194ec4d29595c7245b429cfb	Batten disease is characterized by @PHENOTYPICFEATURE$, @DISEASE$, cognitive decline, and early death.	false
+318574e2072d2b3cd715c54c6f1e926f336d2425	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, seizures, cognitive decline, and early death.	false
+cfaa6af5b1eb2ed6a0407262a67f94db72d2aed3	Anti-GAD autoantibodies could result in excess excitatory neurotransmitters, leading to the @PHENOTYPICFEATURE$ and other symptoms observed in patients with @DISEASE$.	has_symptom
+5f93ad5f5711b56806e944838c50ea70e9fb28a9	Loss of lysosomal glucocerebrosidase (GBA1) function is responsible for several organ defects, including @PHENOTYPICFEATURE$ in type 1 @DISEASE$ (GD).	has_symptom
+754bab11e841da82e7a47f65f8b64e8f65126178	@DISEASE$ is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmo?d (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and @PHENOTYPICFEATURE$ (Waardenburg syndrome).	has_symptom
+518842112fda89777a83051f4239c18e2809c914	@DISEASE$ (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, @PHENOTYPICFEATURE$, and Hirschsprung disease (HSCR).	has_symptom
+abd576dd113567356830a5cfde129ed9baa104c9	Waardenburg-Shah syndrome (@DISEASE$-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, @PHENOTYPICFEATURE$, and Hirschsprung disease (HSCR).	has_symptom
+a0700dde48f53e57d42e5cc801300231d16d73a7	This phenotype clearly overlaps with the features of the @DISEASE$, comprising @PHENOTYPICFEATURE$; hypopigmentation of skin, hair, and irides; and HSCR.	has_symptom
+b1ff1bcd45431bccc6460f246a14ab87a41b1ae2	This phenotype clearly overlaps with the features of the @DISEASE$, comprising sensorineural deafness; @PHENOTYPICFEATURE$ of skin, hair, and irides; and HSCR.	false
+a82d2af7b66ea6cc4d6e88975f5e33e2794a5413	This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising @DISEASE$; @PHENOTYPICFEATURE$ of skin, hair, and irides; and HSCR.	false
+1e140d0facfb34eb4d2e27e8a8677ba55c27e320	@DISEASE$ (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (@PHENOTYPICFEATURE$ and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis).	has_symptom
+53c531522be1e63c873904deebc0a0e7265f5e44	Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and glial cells, are found in @DISEASE$ (WS4), a neurocristopathy that associates intestinal aganglionosis, pigmentation defects and @PHENOTYPICFEATURE$.	has_symptom
+3cd0757c0100aa73fe442004ebf6cf247bec32cb	@DISEASE$, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @PHENOTYPICFEATURE$ and Hirschsprung disease.	has_symptom
+c189d5e62536452e71f0a9a7e098c0918da58d4c	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital @DISEASE$ with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+93819563c146c8896ef453c3ef0682070d5abdd4	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare @DISEASE$ disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+04c18d377e41d3858a8c461b42153d968c169a9e	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by @DISEASE$ abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+cdc1d0b89873a0dfee3da1f7f0877d1fa10ba08e	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and @DISEASE$.	false
+8980ce8cd2fd5d1aefeab851c4f2619914366fa3	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, @DISEASE$ and Hirschsprung disease.	false
+a707038fafeba4be7c09326262ea7f1efb3590c9	@DISEASE$, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease.	false
+2e32790ee6416fe8186117a5e66d77543c5b1209	The @DISEASE$ syndrome (DCMA) is a rare mitochondrial disorder characterized by progressive cardiomyopathy, prolonged QT interval and early death in childhood related to intractable @PHENOTYPICFEATURE$.	has_symptom
+f54e4de99e172bd800c1eb19dbb0c86cb343a947	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, mental retardation, hypotonia, cerebellar dysfunction, polyneuropathy, @PHENOTYPICFEATURE$, and stroke-like episodes.	has_symptom
+8b0caafcde638f6b74a5fd5c0b68b59ba96beac4	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes.	false
+ea25b5dc51a08ee8433c6d0bc3be9f4322e8ccfc	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, @DISEASE$, seizures, and stroke-like episodes.	false
+ee53d0664bc2403196890e050ed3d2aaf9cf52a2	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes.	false
+cbd35a6f3f9f5d5ae4a82daad0686e2de429bc3c	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, @DISEASE$, and stroke-like episodes.	false
+ec9d255bfc8ddd662bbe05f84f2cab7757fc84b1	@DISEASE$ presenting as early-onset @PHENOTYPICFEATURE$ in an adult.	has_symptom
+f4f5e876a779be7215032de53ccbb9b198a342eb	We report a family with distal arthrogryposis and @PHENOTYPICFEATURE$ which demonstrates the clinical overlap between Gordon syndrome and @DISEASE$.	has_symptom
+dce011812a03408ac1d3ee3ea4a550b00d19543d	A family with distal arthrogryposis and @PHENOTYPICFEATURE$: possible overlap between Gordon syndrome and @DISEASE$.	has_symptom
+1acc99acb471c59d502e1496bfa1390665123930	@DISEASE$ (ASS) is usually defined as a dominantly inherited combination of arthrogryposis, Dandy-Walker malformation and @PHENOTYPICFEATURE$.	has_symptom
+ba369e86823aeeb00e9826de3a46f2b9b5ad6ad2	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, @PHENOTYPICFEATURE$, and self-limited seizure disorder.	has_symptom
+861e467816def05a9c2b2dece93fad40435a8259	@DISEASE$ is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, mental retardation, and self-limited seizure disorder.	false
+716d85c97d84904eff5073e5824863b8e4cc9f7f	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, @DISEASE$, and self-limited seizure disorder.	false
+590809abc75133c737319d446c12288a8118bf2e	Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, @PHENOTYPICFEATURE$, mental retardation, and self-limited @DISEASE$.	false
+2c4b5df48d18af58adb09f5ad3fc10aa740ca400	Despite recent advances in the management of children with chronic renal disease (@DISEASE$), @PHENOTYPICFEATURE$ remains its most visible comorbid condition.	has_symptom
+102a782d0a48fb8d0480f1bb1ccbb577ad094b46	@DISEASE$ (JDM) is characterized by proximal muscle weakness, vasculopathy of the skin and muscles, and typical @PHENOTYPICFEATURE$.	has_symptom
+49c3a6c72bf5db37a9829873d7df74f7f94d56a7	@DISEASE$ is a multisystem disease characterized by muscular inflammation affecting primarily the skin and muscle; it presents as a nonsuppurative myositis causing symmetrical weakness and typical @PHENOTYPICFEATURE$ that affect the face and hands in particular, but can occur at any site.	has_symptom
+6d8775998b91d4a14f622e57f0b320c8b3b32782	@DISEASE$ is an uncommon autoimmune disease with classic heliotrope discoloration of the eyelids, erythematous @PHENOTYPICFEATURE$ of joints, and proximal muscle weakness.	has_symptom
+e6b2ad0bf7339d0149cdee772b3fed7de2511f17	We investigated two patients with the @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+17b87a7cced2d0408ac50fb1cec5ac688cf974fa	[@PHENOTYPICFEATURE$ and @DISEASE$: review of the literature apropos of a case with atypical presentation].	has_symptom
+6ade9767b580a0bef37ab2127ac2ee7e39b0bcdc	[@PHENOTYPICFEATURE$ and myositis in @DISEASE$: case report].	has_symptom
+dae606eacf859547fb11909f47f554fa0c0d5048	We studied a young patient suffering from @DISEASE$ who presented with Horner's syndrome, @PHENOTYPICFEATURE$ and skin ulcers.	has_symptom
+83ac832ca9e03f388da6669902cb79a4ed8641ae	We studied a young patient suffering from @DISEASE$ who presented with Horner's syndrome, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+2ff3ef8cb5ef8ede5d404dab2d7b8b8ff351fab9	We studied a young patient suffering from idiopathic hypereosinophilic syndrome who presented with @DISEASE$, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+47948ca79cdbd5cd6a34cf5077d1768333d23c6a	We studied a young patient suffering from idiopathic hypereosinophilic syndrome who presented with Horner's syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2237e18467a14de58d678892d04caeceeaff56da	Involvement of the nervous system in the @DISEASE$ is a common finding, @PHENOTYPICFEATURE$ being the most frequent neurologic manifestation, usually appearing at the onset or following the appearance of eosinophilia.	has_symptom
+6d6ca952bfb6e9a1c46cb80d5904accf65ba1dd2	@DISEASE$ with eosinophilic myositis, @PHENOTYPICFEATURE$ and central nervous system involvement.	has_symptom
+bfb2b50ec4cccd5713ec70b8c51ca6f7a815c2f1	A female patient is described in whom the diagnosis of @DISEASE$ (HES) with heart disease and @PHENOTYPICFEATURE$ was made at the age of 32 years.	has_symptom
+0b3bf489e5c177766ad40e3936084e0b7f15869c	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with @PHENOTYPICFEATURE$, encephalopathy and cerebral thromboembolism.	has_symptom
+01554d1bc37f89800123e0f9a9936b718424603a	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral @PHENOTYPICFEATURE$.	false
+238724549a63fac1b9d2ca5e0bde7b1896d7e1c2	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, @PHENOTYPICFEATURE$ and cerebral thromboembolism.	false
+4c431ef1b035f96b9e9a3823746559b03e2da6d4	Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with @DISEASE$, encephalopathy and cerebral @PHENOTYPICFEATURE$.	false
+a9190f9eb4fff8db11dce196e95c1dfd14479434	Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with @DISEASE$, @PHENOTYPICFEATURE$ and cerebral thromboembolism.	false
+e8299316514557bb757653dafa80705da8ef1a8e	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, microcephaly, @PHENOTYPICFEATURE$, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features.	has_symptom
+fcdd4286a8cfb5ffff0d0d64abc60991788e1c34	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$ with cochlear abnormalities, and facial dysmorphic features.	false
+ab4ebca0025c9d8024d3cb298639ada837ba16f5	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing loss with cochlear abnormalities, and @DISEASE$ dysmorphic features.	false
+90c8758865f2be7e98f6acddf93602a0c0674f25	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, @PHENOTYPICFEATURE$, intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features.	false
+cc76cd6431bd904ca35b9ef20c9b6a5db4c65bf5	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, microcephaly, intellectual disability, @PHENOTYPICFEATURE$ with cochlear abnormalities, and @DISEASE$ dysmorphic features.	false
+59578e53c7b14371896c6b7269a0affc12b61bfa	The sisters reported here display the distinguishing clinical features of WABS: pre- and post-natal growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features.	false
+1f623a4490be3f63fb0cab203ee1e15b22a2a66a	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, microcephaly, intellectual disability, @PHENOTYPICFEATURE$ with cochlear abnormalities, and facial dysmorphic features.	false
+e334b6282c9d4555f4ce018161f14b462a5d5a5f	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	has_symptom
+aad79e05e61ad7197364b8de99df2021c377a86e	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	has_symptom
+b97b96499aa08ff31a44696ec4c0aba539bd961a	Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, @DISEASE$, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+bcd67fc616c091d3ef71392ac3adb82cabd47714	Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	false
+f34ea43067215c20e6966bc554988cdce405bad2	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+961566956e9b3b79f95883261f76002823613e28	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+8ac2c4bf0c4e322cc1e3b6fd3a795f9f21e78391	Warsaw breakage syndrome (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+792963ba78ddce990d8f40e5a716411ef5da43db	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	false
+520be196b7088481a4834fe5311265e8b898a213	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, intellectual disability, facial dysmorphia, and sensorineural hearing loss due to cochlear hypoplasia.	false
+593f99464cf7d381387a28b30d2d5e0bc4169a45	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+23b7cba8a962823fd36df9b9f2fb034cd3bf9aca	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+76557bfba04290998766287f55fd30e44908434b	@DISEASE$ @PHENOTYPICFEATURE$ in a nonendemic area associated with infliximab.	has_symptom
+075b1b93a8364b07739b09d3ab3bcb71a97d1665	We describe the case of a 42-year-old female with @DISEASE$ who developed thrombocytopenia, microangiopathic hemolytic anemia, @PHENOTYPICFEATURE$, and neurological symptoms.	has_symptom
+8aab83d188a683cad20c96c207ed606f36d7c554	The most common  manifestations of @DISEASE$ patients were Raynaud phenomenon, arthralgia, arthritis, @PHENOTYPICFEATURE$, acratia, positivities of antinuclear antibodies (anti-ANA) and ribosenuclear protein antibodies (anti-RNP), which were 94.5%,78%,46.2%,48.4%,53.9%,100%	has_symptom
+7d5b51abbee70674c90f1836eb8c5d698db45bd2	Associated extra-digestive manifestations were: weight loss (3 cases out of 11), inflammatory arthralgia (4 cases), @PHENOTYPICFEATURE$ (2 cases), pelvispondylitis (2 cases), autoimmune thyroiditis (2 cases), and @DISEASE$ (1 cases).	has_symptom
+6459cd4eeda009862c19a31c42792b2a9a4d8318	The overall functional prognosis of @DISEASE$ is better than would be expected on the basis of literature findings, with only 2 of the 130 children suffering bilateral @PHENOTYPICFEATURE$.	has_symptom
+f50087d6fdb28c3d61d239e9212069833bb3c84d	@DISEASE$ (and/or chylomicron retention disease-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, @PHENOTYPICFEATURE$, and hypocholesterolemia in childhood.	has_symptom
+2dba519d9bf4e61343c5b3e269fff74139999b68	Anderson disease (and/or chylomicron retention disease-@DISEASE$) is a rare, autosomic recessive disorder characterized by chronic diarrhea, @PHENOTYPICFEATURE$, and hypocholesterolemia in childhood.	has_symptom
+378f840c9d3105a2a10d6fde31a2d239d7244981	Anderson disease (and/or @DISEASE$-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, @PHENOTYPICFEATURE$, and hypocholesterolemia in childhood.	has_symptom
+4d6afaa3081f4d0d8c5eb496abf38ed11728d67f	Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (@DISEASE$), are rare genetic diseases that cause malnutrition, @PHENOTYPICFEATURE$, growth failure and vitamin E deficiency, as well as other complications.	has_symptom
+5167795e3c9899b46143bdcf196b6143deabc225	Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and @DISEASE$ (CRD), are rare genetic diseases that cause malnutrition, @PHENOTYPICFEATURE$, growth failure and vitamin E deficiency, as well as other complications.	has_symptom
+451e20f9bb97517124dfeaf3794c6032332bb0f9	We describe an 11month-old child with @PHENOTYPICFEATURE$, intestinal lipid malabsorption, hepatic steatosis and severe hypobetalipoproteinemia, suggesting the diagnosis of homozygous FHBL, abetalipoproteinemia (ABL) or chylomicron retention disease (@DISEASE$).	has_symptom
+4ae9a73d838941c9639c4a295613db39efeb2f1a	We describe an 11month-old child with @PHENOTYPICFEATURE$, intestinal lipid malabsorption, hepatic steatosis and severe hypobetalipoproteinemia, suggesting the diagnosis of homozygous FHBL, abetalipoproteinemia (ABL) or @DISEASE$ (CMRD).	has_symptom
+7bc914a8038088816ca430bb4b92a57d8535afd7	All @DISEASE$ patients presented within the first few months of life with diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+17ca6db3133557ec3716365e300ac43e87a70f88	Anderson disease (ANDD) or chylomicron retention disease (@DISEASE$) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by @PHENOTYPICFEATURE$ and hypocholesterolemia.	has_symptom
+27bbddc964ed5884ccac8df7e69ed9ae13ab7120	Anderson disease (ANDD) or @DISEASE$ (CMRD) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by @PHENOTYPICFEATURE$ and hypocholesterolemia.	has_symptom
+1cb8f0bddca96faa56b996fc0f7f6a67257a6e3d	@DISEASE$ (ANDD) or chylomicron retention disease (CMRD) is a rare, hereditary lipid malabsorption syndrome associated with mutations in the SAR1B gene that is characterized by @PHENOTYPICFEATURE$ and hypocholesterolemia.	has_symptom
+ac5e85537a0bb43b2fd10f2da152b7617265d590	This study provides new insights on the phenotypic expression of @DISEASE$ over time and emphasizes the need to screen the lipid profile of infants with chronic diarrhea and @PHENOTYPICFEATURE$.	has_symptom
+4a6095810a7cd06e2734c63e0c53f97ad22320f4	The causes of @DISEASE$ (10) included severe perinatal asphyxia (4), postencephalitis (1), traumatic brain injury (1), @PHENOTYPICFEATURE$ (1), and increased intracranial pressure (3).	has_symptom
+1cc9006f73668247fb1db22f7d1aa1fd5d0b7a04	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), @DISEASE$ (two patients), @PHENOTYPICFEATURE$ (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	has_symptom
+624dd5123a089946d6aca97d0e1e6c1e629a6730	Associated neurological conditions included developmental delay (10 patients), @DISEASE$ (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+d6fe229984a7883100b12f20d0d247b1505d070d	Associated neurological conditions included developmental delay (10 patients), @DISEASE$ (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	false
+2e39330877d25a6a37dcab31cf4a58c72545a104	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of @DISEASE$ (one patient), and autism (one patient).	false
+cd405240283918bc07eea87660b47aff781060d1	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), @DISEASE$ (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+7aee8387b157d6008e97975f434eb2c8a9c751aa	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of @DISEASE$ (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+23f3e5350481908b872af2d91f2f0d318e8071c9	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), cortical visual impairment (two patients), @DISEASE$ (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+95f66c3dc188d90ffeb1edbf89579ff108fb8e95	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), cortical visual impairment (two patients), @DISEASE$ (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	false
+d6c08929a8e94e68527d4d7e2451d8771847719d	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), @DISEASE$ (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	false
+446032589c4f1f6b51ebc2a06a0399da3a416730	In these patients, @PHENOTYPICFEATURE$ is an important and frequent complicating lesion which compromises intellectual function and may also cause @DISEASE$.	has_symptom
+65b17826ed87d7f466699ada97ba2d495469874c	The most common causes of @DISEASE$ in the 30 infants were @PHENOTYPICFEATURE$ in nine infants (30.0%), birth asphyxia or neonatal hypoxia in eight infants (26.7%), intracranial hemorrhage with or without hydrocephalus in seven infants (23.3%), and meningitis in five infants (16.7%).	has_symptom
+1f7c5831a552f22718522205ca2fa9cd5ee411d5	The most common causes of @DISEASE$ in the 30 infants were hydrocephalus in nine infants (30.0%), birth asphyxia or neonatal hypoxia in eight infants (26.7%), intracranial hemorrhage with or without @PHENOTYPICFEATURE$ in seven infants (23.3%), and meningitis in five infants (16.7%).	has_symptom
+1cc9006f73668247fb1db22f7d1aa1fd5d0b7a04	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), @DISEASE$ (two patients), @PHENOTYPICFEATURE$ (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	has_symptom
+624dd5123a089946d6aca97d0e1e6c1e629a6730	Associated neurological conditions included developmental delay (10 patients), @DISEASE$ (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+d6fe229984a7883100b12f20d0d247b1505d070d	Associated neurological conditions included developmental delay (10 patients), @DISEASE$ (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	false
+2e39330877d25a6a37dcab31cf4a58c72545a104	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of @DISEASE$ (one patient), and autism (one patient).	false
+cd405240283918bc07eea87660b47aff781060d1	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), @DISEASE$ (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+7aee8387b157d6008e97975f434eb2c8a9c751aa	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), cortical visual impairment (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of @DISEASE$ (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+23f3e5350481908b872af2d91f2f0d318e8071c9	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), cortical visual impairment (two patients), @DISEASE$ (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+95f66c3dc188d90ffeb1edbf89579ff108fb8e95	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), cortical visual impairment (two patients), @DISEASE$ (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	false
+d6c08929a8e94e68527d4d7e2451d8771847719d	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), @PHENOTYPICFEATURE$ (two patients), @DISEASE$ (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and autism (one patient).	false
+975b157748cf7b843fed5a629705b27e5acf747b	High-pressure @PHENOTYPICFEATURE$ is a common complication in @DISEASE$.	has_symptom
+a86eafcea26058aae9578a473b7ed1592cf6620b	As changes in mucopolysaccharide metabolism may be associated with an increased risk of developing neoplasms, the possibility of an intracranial tumor should be considered in patients with @DISEASE$ and high-pressure @PHENOTYPICFEATURE$.	has_symptom
+c78eeef780b3658ec3b9ebe55dfabb53a84c1dbf	As changes in mucopolysaccharide metabolism may be associated with an increased risk of developing neoplasms, the possibility of an intracranial @PHENOTYPICFEATURE$ should be considered in patients with @DISEASE$ and high-pressure hydrocephalus.	false
+4302450b7dbae2437566c02da11562429e6ff288	As changes in mucopolysaccharide metabolism may be associated with an increased risk of developing neoplasms, the possibility of an intracranial @PHENOTYPICFEATURE$ should be considered in patients with MPS I/H and high-pressure @DISEASE$.	false
+734803a2c522bc1f15b0f46a733d06fe157b77fc	@DISEASE$ (SMS) is a complex genetic disorder characterized by sleep disturbance, multiple developmental anomalies, psychiatric behavior, and @PHENOTYPICFEATURE$.	has_symptom
+ab0484767917d74e3043b5bee813ac581fff7e54	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by @PHENOTYPICFEATURE$, multiple developmental anomalies, psychiatric behavior, and @DISEASE$.	false
+3cb83ab2f2bbc6f81b3c9d3eacf051376f19f450	Smith-Magenis syndrome (SMS) is a complex @DISEASE$ characterized by @PHENOTYPICFEATURE$, multiple developmental anomalies, psychiatric behavior, and obesity.	false
+32312ec16c960e1037fd83b201cfde23a93eb6ba	@DISEASE$ (SMS) is a complex genetic disorder characterized by @PHENOTYPICFEATURE$, multiple developmental anomalies, psychiatric behavior, and obesity.	false
+0d60fe86e73173ae40f01820c11039592cfc7b92	@DISEASE$ (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset @PHENOTYPICFEATURE$ and vast behavioral deficits.	has_symptom
+0c8debee28a80bf864c333f159e2210b631888c4	Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with @PHENOTYPICFEATURE$, sleep disturbances, early onset @DISEASE$ and vast behavioral deficits.	false
+7ead34277945382700cb6214b336571717f99bae	@DISEASE$ (SMS) is a neurodevelopmental disorder associated with intellectual disability, @PHENOTYPICFEATURE$, early onset obesity and vast behavioral deficits.	false
+fb8cd8086f0caa5d55907be14bc5a1301ac1a1c7	Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, @PHENOTYPICFEATURE$, early onset @DISEASE$ and vast behavioral deficits.	false
+bdf23d50469058d9d752a70766c27f71366077ea	@DISEASE$ (SMS) is a neurodevelopmental disorder associated with @PHENOTYPICFEATURE$, sleep disturbances, early onset obesity and vast behavioral deficits.	false
+6df09d3ef1149672770d34f429739a55cdd13645	@DISEASE$ (SMS), manifesting @PHENOTYPICFEATURE$ and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1.	has_symptom
+e0bef78f1c35a267d6f91d63d521bc77ba8542d3	@DISEASE$ and its circadian influence on development, behavior, and @PHENOTYPICFEATURE$ - own experience.	has_symptom
+4ac09b8b0726d18b9cf61338dc688a85a88f9987	@DISEASE$ (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, sleep disturbance, @PHENOTYPICFEATURE$, and craniofacial and skeletal anomalies.	has_symptom
+f3b775d69174d39b9dcf2a5f026f1f18b5e037d6	Smith-Magenis syndrome (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, @PHENOTYPICFEATURE$, @DISEASE$, and craniofacial and skeletal anomalies.	false
+cba2236ebca6f88d1fc8f7d42b02cd4ed2c3b058	@DISEASE$ (SMS) is a complex neurobehavioural disorder characterised by @PHENOTYPICFEATURE$, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and skeletal anomalies.	false
+032b7981a298aae8174c1b587aa6480c790a70d6	Smith-Magenis syndrome (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, sleep disturbance, @DISEASE$, and craniofacial and @PHENOTYPICFEATURE$.	false
+7ccfa43e923bf31198c2bb2fbb09bf6749065043	@DISEASE$ (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, @PHENOTYPICFEATURE$, obesity, and craniofacial and skeletal anomalies.	false
+a06cabaee2eaf939485cceccea0103e0f21a1dda	Smith-Magenis syndrome (SMS) is a complex neurobehavioural disorder characterised by @PHENOTYPICFEATURE$, self-injurious behaviours, sleep disturbance, @DISEASE$, and craniofacial and skeletal anomalies.	false
+d85ca22eb75975d9dd68e1e7542367f7f5e42602	@DISEASE$ (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and @PHENOTYPICFEATURE$.	false
+55350d234cb27be32108787c06f69a8b5c223299	Haploinsufficiency of RAI1 results in @DISEASE$ (SMS), a disorder characterized by intellectual disability, multiple congenital anomalies, @PHENOTYPICFEATURE$, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern.	has_symptom
+f03f54ec7e46819b73806dd41f987f885910a471	Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized by @PHENOTYPICFEATURE$, multiple congenital anomalies, @DISEASE$, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern.	false
+d2c377fb182bea99c22423311eda4a0b97983f7d	Haploinsufficiency of RAI1 results in @DISEASE$ (SMS), a disorder characterized by @PHENOTYPICFEATURE$, multiple congenital anomalies, obesity, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern.	false
+636b2d0dbe002d25150edc859c439d7b1de444f0	Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized by @PHENOTYPICFEATURE$, multiple @DISEASE$, obesity, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern.	false
+78274096c4a6b2cabf39326e715871eb27428cb2	@DISEASE$ (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, intellectual disability and early onset @PHENOTYPICFEATURE$.	has_symptom
+0c544663a30e162c363c48aa8a3e9c9e39163f29	@DISEASE$ (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, @PHENOTYPICFEATURE$ and early onset obesity.	false
+37aa2f670a1f984e222917e58b4510e3f9a8e185	Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, @PHENOTYPICFEATURE$ and early onset @DISEASE$.	false
+b0a7499148a11e9b0180c6e7349455f89050f36e	These results suggest that dietary regimens are extremely important for individuals with @DISEASE$ and that food high in fat and carbohydrates may exacerbate @PHENOTYPICFEATURE$ outcomes.	has_symptom
+09e655cebf261e90b1f90b7681813678862abc03	@DISEASE$ is a rare autosomal recessive inherited disease characterized by skin fragility, nail dystrophy and @PHENOTYPICFEATURE$.	has_symptom
+d4ef1f26e89bb0442ee83fcae16e9b792f2108ef	@DISEASE$ (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, @PHENOTYPICFEATURE$, onichodystrophy, perioral fissuring and noncicatricial alopecia.	has_symptom
+5cb6f5552c69047d062c1ca9fc4e78f0936f3ec1	Rarely, @PHENOTYPICFEATURE$ of the toes has been reported, and in this event the diagnosis of @DISEASE$ must be discussed.	has_symptom
+d39f28c6d5c6fae534c1846d507a8ce95e97c4a6	She was diagnosed as a case of @DISEASE$ having acrocephaly prominent ridge of sagital suture, @PHENOTYPICFEATURE$, syndyctyly on history, clinical examination findings and investigation reports.	has_symptom
+841c7d93af4b33044c391243a4a8517a7769937f	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	has_symptom
+db78e88ff4884ec5f6cf70a0b017feb3757c3d21	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @DISEASE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+3828218b70220b6ba94a1314ed192c688f74e001	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a12eb2f95744cffb6b2953bb8210aac5e8b9f46a	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+2cafc1f286cff0ea9a8e31b4c94d031554988d1d	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @DISEASE$, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+c577ef53533ac9a3d3aed722c7d1299eec3170dd	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @DISEASE$, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9a9c37c8b6ae070d98a64b55b3bb196cd7e212b4	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+2846caef792df303906a16307ad2d1fdc2625bc7	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+3e27ae7c2f40f750b764527466eb49b659e1c411	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @DISEASE$, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a99640fa66514459000ee0bcc49aeb40deba8c54	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9a569857a8accf89d9c4b4d3b6370a79fa3e0454	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+b8d441bbd89fd68e663ddc4f7c5a320c5b7140ab	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, @DISEASE$, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+ac21f1c099398770a37433213ccb9286b77a4e45	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+5c764caefaf508a2f457594bba319c22bd8be6d9	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+fea7a10080cfad9fb1b80c9c35891397dc9dc88f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+dac7489a843d0ca24db83f35affb5093efcfc6a5	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+19b4a2f9ee76becd64b80dcba0f63b2a3b4593f3	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b9f641369c62c7e2bd46300896cad21e9c6cd34a	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+adf8d1ac558ae39154cf82bbb0ee7c29f076ed31	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+336ef8a443129b42a61ab2d64597aadaeacdebc9	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+ba2f9555096c22275d6ecb2ad1c80d9be3d5e4fe	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @DISEASE$, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+a6cffcddf838bb176e660c6c6d21b45738706759	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+1b9a2f98d5f34dd4afd813cbb8f513ed90fe5850	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+4726d63422cafa846d04bbf2cb395d31e11c3622	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+0fa332ac3a238f848632ad1cfc83027039d1a38d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+5dfe0c9ff0bab5595d2bf9e82aab33eb00be957e	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @DISEASE$, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3ab26b2e3d68f3a7f504cba34363659a1e4f4c76	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+9f5efe846101119c3c92fbb510a6c0a2ce8bb59b	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+974549c7f14fbc651c6c39008a2a966ef34bc73c	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b0be8f5df9cb498a5b6b7783c6d2fc9b18edd364	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+aabde70a5d8e3871de5f4ca24d53d76abe795d54	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @DISEASE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+29a22b6bd37e4d502f1eaf57128f8d10054093da	The triad of nephropathy, partial @PHENOTYPICFEATURE$ and Wilms' tumour (WT) is known as @DISEASE$ (DDS).	has_symptom
+5e2e466501bd624c26fe7a3d23a4d6ee24df2450	The triad of nephropathy, partial gonadal dysgenesis and @DISEASE$' @PHENOTYPICFEATURE$ (WT) is known as Denys-Drash syndrome (DDS).	false
+e0bb3f79c9908f3149c8bc9d70c38abba0215e2d	The triad of nephropathy, partial gonadal dysgenesis and Wilms' @PHENOTYPICFEATURE$ (WT) is known as @DISEASE$ (DDS).	false
+3e86bfbb0531338e4d9280f91394a58160970107	The triad of @DISEASE$, partial gonadal dysgenesis and Wilms' @PHENOTYPICFEATURE$ (WT) is known as Denys-Drash syndrome (DDS).	false
+151b6a7038ce11d7ceb0ca76827210ed70a298e2	The triad of nephropathy, partial @DISEASE$ and Wilms' @PHENOTYPICFEATURE$ (WT) is known as Denys-Drash syndrome (DDS).	false
+00d58f790e3e3cc89c624e37272676fe0507947a	We present a child with @DISEASE$ recognized after surgery for @PHENOTYPICFEATURE$, and discuss screening procedures the urologist should consider in similar circumstances.	has_symptom
+7adc4037751ad5b7581c4063ef8d9dfa2365eacf	Partial androgen receptor deficiency and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+cd285eee18fc779da7a01ad790bcaab8e1fe9fa0	@PHENOTYPICFEATURE$ and nephropathy are often indistinguishable from incomplete @DISEASE$.	has_symptom
+85c3e5496f836e6267c22b952f9b3b90d2c5f4c0	By diagnosis germ cells were present in all patients with complete androgen insensitivity syndrome, @DISEASE$, SRY mutation, @PHENOTYPICFEATURE$, ovotesticular conditions and StAR (steroid acute regulatory protein) deficiency, in some patients with persistent m?llerian duct syndrome, XO/XY Turner syndrome and disorders of sex development not otherwise specified, and in none with complete or partial gonadal dysgenesis.	has_symptom
+f5d959cfc6fbf34322c6a60946c11f0be0b8eb46	Association of partial @PHENOTYPICFEATURE$, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete @DISEASE$.	has_symptom
+b2c38eeddbeaa0afa06449cb4c1ea5e398d4fb45	A patient with @DISEASE$ is reported with the following: karyotype 46,XY, external genitalia near normal female, @PHENOTYPICFEATURE$, severe androgen receptor deficiency demonstrated for the first time in this syndrome.	has_symptom
+a7a18eec898466c8183170e19333b0399ddf9566	By virtue of its mapping assignment to the Xp22 region, Cxorf5 represents a candidate gene for at least four human diseases, namely spondyloepiphiseal dysplasia late, oral-facial-digital syndrome type 1, @DISEASE$, and a nonsyndromic @PHENOTYPICFEATURE$.	has_symptom
+6c925cd9386490a816694192ec57827eaae71cd4	In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right @PHENOTYPICFEATURE$; these manifestations have not been reported previously in @DISEASE$ and expand the phenotype of this syndrome.	has_symptom
+64e26fb66543dd5be34dff48fc55b76f23618e26	Studies of patients with salt-wasting CAH found that up to 10% had clinical features of @DISEASE$, associated @PHENOTYPICFEATURE$, haploinsufficiency of TNX and heterozygosity for TNXB mutations, now called "CAH-X."	has_symptom
+ac36ba42fac1ea4d1541ba3edf7b5da6047d7040	Prevalence of TECTA mutation in patients with @DISEASE$-frequency @PHENOTYPICFEATURE$.	has_symptom
+436e8d1f34783eeb7c9ba102b05b1fca26f46ee6	First patient had @DISEASE$-frequency hearing loss in right ear and high frequency @PHENOTYPICFEATURE$ in left ear.	has_symptom
+6428ce2323d485ce5546051b7b9ba5d4f0326e5d	We present a previously undescribed syndrome characterized by triangular facial appearance, @DISEASE$-facial hypoplasia, cleft palate and mild @PHENOTYPICFEATURE$ in two siblings.	has_symptom
+de068c89ac44a5565b8038745663bfc5332ce030	We present a previously undescribed syndrome characterized by triangular facial appearance, @DISEASE$-@PHENOTYPICFEATURE$, cleft palate and mild sensorineural hearing loss in two siblings.	false
+960263eb36b879557ab2e0f84ce3fe665082e3fb	We present a previously undescribed syndrome characterized by triangular facial appearance, mid-facial hypoplasia, @PHENOTYPICFEATURE$ and mild @DISEASE$ in two siblings.	false
+3ad0685d7ad698280170d992c14a5d27c3e3b1f5	We present a previously undescribed syndrome characterized by triangular facial appearance, @DISEASE$-facial hypoplasia, @PHENOTYPICFEATURE$ and mild sensorineural hearing loss in two siblings.	false
+794028876dca7b797f140194f0f32e5bd1e9dc18	We present a previously undescribed syndrome characterized by triangular facial appearance, mid-@PHENOTYPICFEATURE$, cleft palate and mild @DISEASE$ in two siblings.	false
+5788b96e1dc791d9e1d15478bb379e3a305ab022	Four genes have been reported as causative for @DISEASE$-frequency @PHENOTYPICFEATURE$ (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown.	has_symptom
+0cce64b6357c3fb6b5f8f711f1725ecf2976e175	An audiometric finding of @DISEASE$-frequency @PHENOTYPICFEATURE$, or a "bowl-shaped" audiogram, is uncommon.	has_symptom
+b4df0bf97af280f5914ff4a23f291afeb4dd72bf	Characterized by diabetes mellitus and @PHENOTYPICFEATURE$; @DISEASE$ is also associated with macular dystrophy, neuromuscular and psychiatric manifestations, cardiomyopathy as well as renal insufficiency.	has_symptom
+a41608451725b084d95f9d835151e5a1fe38f534	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, @DISEASE$-facial hypoplasia, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and @PHENOTYPICFEATURE$.	has_symptom
+d81caff2b5131f3e2bd6563fbec5938d33f5bbd6	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, mid-@PHENOTYPICFEATURE$, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and @DISEASE$.	false
+adefa4740a6016d03a518be9dca8fccd582332e8	The child had a short neck, @PHENOTYPICFEATURE$, depressed nasal ridge, epicanthal fold, mid-facial hypoplasia, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and @DISEASE$.	false
+24c03eecee461416142ed4fe638d7fac8bf7fd6c	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, @DISEASE$-@PHENOTYPICFEATURE$, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+3df9f3b0fb22650be998cd65290719634e6644de	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, mid-facial hypoplasia, thin upper lip, long philtrum, @PHENOTYPICFEATURE$, postaxial polydactyly, atrial septal defect, hydronephrosis, and @DISEASE$.	false
+d2f6ff78483726cac71f5d754f422c071e9d2931	The child had a short neck, hypertelorism, depressed nasal ridge, @PHENOTYPICFEATURE$, @DISEASE$-facial hypoplasia, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+11a949dcbff3da5e5bfcae31964320df8d7092b5	The child had a short neck, hypertelorism, depressed nasal ridge, @PHENOTYPICFEATURE$, mid-facial hypoplasia, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and @DISEASE$.	false
+77f441a302286ac4655ef1401aca7bbb6b6a02e6	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, @DISEASE$-facial hypoplasia, thin upper lip, long philtrum, @PHENOTYPICFEATURE$, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+8bbf950c71ce88f5e56815e6c93c6bab10be612a	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, @DISEASE$-facial hypoplasia, @PHENOTYPICFEATURE$, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+b48f91ec1e7c0484e0727418e2b2c545142c0fa0	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, mid-facial hypoplasia, @PHENOTYPICFEATURE$, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and @DISEASE$.	false
+d0ba7418ac45564d8120a101be76d2093192122b	The child had a short neck, @PHENOTYPICFEATURE$, depressed nasal ridge, epicanthal fold, @DISEASE$-facial hypoplasia, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+d328009c1efb6e0ec242a240e9db9c23064fcdfd	Maternally inherited diabetes and deafness (@DISEASE$) syndrome is a rare disease associated with progressive @PHENOTYPICFEATURE$ due to a mitochondrial DNA mutation.	has_symptom
+0a54c8665ecc9f0c98d290e8379fe9504945c71d	@DISEASE$ (MIDD) syndrome is a rare disease associated with progressive @PHENOTYPICFEATURE$ due to a mitochondrial DNA mutation.	has_symptom
+0332a8dff19116fdd65b9d10d4b177f6de50e06d	An audiometric finding of @DISEASE$-frequency @PHENOTYPICFEATURE$ (MFSNHL), or a U-shaped pattern, is uncommon.	has_symptom
+ce38aa0ccf5a033694063d011b4d1740088ee25f	@DISEASE$ (MIDD) is a mitochondrial syndrome characterized by the onset of @PHENOTYPICFEATURE$ and diabetes in adults.	has_symptom
+f86c9549ebe953cd4b9fde68a610bc8e0a38b9f3	was discovered in a girl with chorioretinal lacunar lesions characteristic of @DISEASE$, developmental delay, and infantile @PHENOTYPICFEATURE$.	has_symptom
+ecc7145ebb8962b7cc35ddc18746c6f397f3c40d	[Electroclinical characteristics of @PHENOTYPICFEATURE$ in the @DISEASE$].	has_symptom
+444d9145106d76b8d474bd48aa5b4ed0df1e0919	A significant number of females with @DISEASE$ are of normal birth and develop normally until three months of age when infantile @PHENOTYPICFEATURE$ begin.	has_symptom
+4dd5687886ded2a4b2e10500e7b5eeb02e0b77f3	@DISEASE$ has been defined by the triad of agenesis of the corpus callosum, early @PHENOTYPICFEATURE$ onset and lacunar chorioretinopathy.	has_symptom
+630c868b288c508a28d69c517e1a28bb717198d3	Aicardi syndrome has been defined by the triad of @PHENOTYPICFEATURE$, early @DISEASE$ onset and lacunar chorioretinopathy.	false
+a8938ce3f17cb39e2cba00ad84d04776f733e9b4	@DISEASE$ has been defined by the triad of @PHENOTYPICFEATURE$, early seizure onset and lacunar chorioretinopathy.	false
+585bcbbe0d82afb339e7a67817f156735fd7aba0	Intractable reflex audiogenic @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+f7a83bd126e2e2cf0c2f1b85dddcec8b406f3ce6	@DISEASE$ most commonly comes to medical attention because of @PHENOTYPICFEATURE$ later in infancy.	has_symptom
+0be18686af3043938e465284547c8c11cfc5d958	@DISEASE$ is a developmental disorder characterised by agenesis of the corpus callosum, retinal lacunae, @PHENOTYPICFEATURE$, and developmental delay.	has_symptom
+ad6912dea4f1a410531c410431dcdea86497bd9a	Aicardi syndrome is a developmental disorder characterised by @PHENOTYPICFEATURE$, retinal lacunae, @DISEASE$, and developmental delay.	false
+eca66f8af84e3630244e959766a37f65cc3df7a6	@DISEASE$ is a developmental disorder characterised by @PHENOTYPICFEATURE$, retinal lacunae, seizures, and developmental delay.	false
+41b12b4c0f580c9906a1722db1276a4bc0f2ec6a	We found an age-adjusted prevalence of 0.63 per 100,000 females with @DISEASE$ and that their @PHENOTYPICFEATURE$ disorder appeared to improve with age.	has_symptom
+24d60a5856c21b6ce66c00d30458a7a4c3154708	@DISEASE$ (AS) is a severe neurodevelopmental disorder characterized by the triad of @PHENOTYPICFEATURE$, agenesis of corpus callosum, and chorioretinal lacunae.	has_symptom
+d15387efe8cbeaea156ada0453bc88b89d1efae1	Aicardi syndrome (AS) is a severe neurodevelopmental disorder characterized by the triad of @DISEASE$, @PHENOTYPICFEATURE$, and chorioretinal lacunae.	false
+dad72f5eaf26d533cb47d57f1895c7c83d602684	@DISEASE$ (AS) is a severe neurodevelopmental disorder characterized by the triad of seizures, @PHENOTYPICFEATURE$, and chorioretinal lacunae.	false
+29911b98ba5978ebd4ac7ee5e5951cfce0cc3901	Information was obtained from 77 females with @DISEASE$ regarding developmental milestones, seizure frequency, @PHENOTYPICFEATURE$ classification, antiepileptic drug use, and medical problems.	has_symptom
+bc6668b15bffaf218fb5fef585e1657c831eb70d	Information was obtained from 77 females with @DISEASE$ regarding developmental milestones, @PHENOTYPICFEATURE$ frequency, seizure classification, antiepileptic drug use, and medical problems.	has_symptom
+a6bcaf03b70c91740cbfc8fc182f682eabb20f9a	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	has_symptom
+f098d4e96c47460adf3aa011a553da173f95ad18	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, @DISEASE$, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+fd514de9eea9b8f75cf8bc75f7a87805988828dd	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+f5c28a0e4618b5bdd9a067d099d9e22a013c73bc	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+1081474133391450d2388b5b74b26fd99bdee576	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, @DISEASE$, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+8287447b85645f8352f35b7f17515921ba0ac855	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+850b093d5e9e388226a69c3efac1d8959e450491	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+36892d22b2934879082464c2aaa9dd08f5472972	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (@DISEASE$).	false
+71ecad4a444ae560e3831edb5d76c8cb27886eda	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+c431bf42654cf59c3841f133ecafbfdaa0f5736a	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and @DISEASE$) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+ac0568072ae949bd785dcecb31cfee0e0804b50f	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) @DISEASE$, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+b81f597d773951b9c861abb3e5b6b390cd90a349	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, @DISEASE$ and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+15381f9367bb7e7442afc1e2dde46d3c01854c8f	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and @DISEASE$) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+d79b2141761e2140a6e3d202c8e8d687fdb2d320	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+afd0588560c6a1ffc1913282cb20832ae4c51350	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) @DISEASE$, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+266500db25fa3ee0600739171056c32764319a36	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (@DISEASE$).	false
+e077fe32d55e0891815cccd67e3cf50c77460327	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, @DISEASE$ and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+fc172259c8343e449dddeccc63475f32c9b53f19	deletion within the @DISEASE$/VCFS 3 Mb region in a child with @PHENOTYPICFEATURE$ and aggressive behavior.	has_symptom
+6267099c67f4ce534eb326a49ef48907856c9474	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, @DISEASE$/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and @PHENOTYPICFEATURE$.	has_symptom
+77ad11941af01e3b43a39f657631a9ad8addd4e5	Most cases reported as @DISEASE$, @PHENOTYPICFEATURE$-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Mobius syndrome describe instances of the Hanhart syndrome.	has_symptom
+bce340c0322028d86e5224581dbafab15cf69ba7	Most cases reported as aglossia-adactylia syndrome, @PHENOTYPICFEATURE$-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Mobius syndrome describe instances of the @DISEASE$.	has_symptom
+81863e2a7d45f190a65f5e2b1f9c14b648fa1ea9	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	has_symptom
+ecbaac4f779d8900dfa6bc4f809c2e356d3e856e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, @DISEASE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+cb9a59c69e6877297ad4e7280e194459d14f606e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, @DISEASE$, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+1eb4aefb838b7e2898f04ce03da238c7fe60f41a	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	false
+b159214352a57143526b34e03107ccca492563b7	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	false
+74abab5f394aaf0ad4a0c8fe111aaf16e1b5a31e	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, @DISEASE$, Bardet-Biedl syndrome, and Usher syndrome.	false
+04dd537d53b3f58236658f806491409e3d2fec59	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including @DISEASE$, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+1ddeefa7cfe3d03086d4af89d553023032a5c827	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+45fe7a080bc042edb03bfe8cbf8510607560d63b	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+a952a549817fedd8d49752870d958737c1eaec00	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, @DISEASE$, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+fc20aa485af30288e1e585ad60a5ce1a68ba1872	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, @DISEASE$, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+c722b090e49403dab73164d9fafa11e2ee8e5d9a	Prevalences of bone spicule pigmentation and @PHENOTYPICFEATURE$ were comparable in @DISEASE$ subtypes.	has_symptom
+90519683c347dadbf12ba3433342c16f389a5c03	Mutation in the X-linked RAB40AL gene (@DISEASE$) with @PHENOTYPICFEATURE$, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.	has_symptom
+8d90b9fca97e3f0856879c21576ee7014ce40091	Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with @DISEASE$, @PHENOTYPICFEATURE$, and anomalies of the craniofacies and genitourinary tract: a second case report.	false
+90b6583dcfb553c98330c28d30ebc2beb5f9f76f	Mutation in the X-linked RAB40AL gene (@DISEASE$) with mental retardation, @PHENOTYPICFEATURE$, and anomalies of the craniofacies and genitourinary tract: a second case report.	false
+c6968b9cb658260150f89f61df788bf5b33dc917	@DISEASE$ is a rare condition of presumed autoimmune etiology that is characterized by intermittent painful spasms, diarrhea, @PHENOTYPICFEATURE$, and bone abnormalities.	has_symptom
+07552b7d899ec8e587d7044b78b4dd2ea4e114bc	We further discuss seizure phenotypes in reported patients, highlighting that @PHENOTYPICFEATURE$ are part of the clinical manifestation of the @DISEASE$.	has_symptom
+ea3956b8e75f10315b4611fe131cc222068b2a83	We further discuss @PHENOTYPICFEATURE$ phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the @DISEASE$.	has_symptom
+cbe5251a52252194a193b93fd3506c2a42c2a1d5	Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with @DISEASE$ syndrome who were not reported to have profound @PHENOTYPICFEATURE$.	has_symptom
+ec4527aa6402875e8bd3b5019395df8cd69bf36c	These findings suggest that the LRP5-Tie2-Ang signaling axis plays a central role in control of both angiogenesis and alveolarization during postnatal lung development, and that deregulation of this signaling mechanism might lead to developmental @PHENOTYPICFEATURE$, such as are observed in @DISEASE$ (BPD).	has_symptom
+1c1f301babcde260a3978eb330b9efa648c7de7e	These findings suggest that the LRP5-Tie2-Ang signaling axis plays a central role in control of both angiogenesis and alveolarization during postnatal lung development, and that deregulation of this signaling mechanism might lead to developmental @PHENOTYPICFEATURE$, such as are observed in bronchopulmonary dysplasia (@DISEASE$).	has_symptom
+f994f4eda5ec5a5d555dffbe91db04738e377a3d	In five @DISEASE$ patients, @PHENOTYPICFEATURE$ was diagnosed.	has_symptom
+ac71ee62c62a1c4c21be37ab5c598a8b921252e9	The majority of described individuals have @PHENOTYPICFEATURE$ due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in @DISEASE$ syndrome is increasingly being reported.	has_symptom
+0b59c3ee190a0c622f04d2ccfc53becb5f674fd0	The majority of described individuals have @DISEASE$ due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the @PHENOTYPICFEATURE$ in BOF syndrome is increasingly being reported.	false
+bdeca9486da9d812c96b9ce3ff59967de5051eca	The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the @PHENOTYPICFEATURE$ in @DISEASE$ syndrome is increasingly being reported.	false
+ef0638ba1a4a838218e124e11df67ba936d4dec0	The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the @PHENOTYPICFEATURE$ in BOF @DISEASE$ is increasingly being reported.	false
+c94740f6009292de377f1ca76d95597d4fc27b8b	Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, @PHENOTYPICFEATURE$, and malformed ears recognizable even in the 30-week fetus and distinct from that of the @DISEASE$.	has_symptom
+2aac5fb5c33863c8275f58578f9285d7aa39db83	The facial appearance (hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, @PHENOTYPICFEATURE$, low set malformed and posteriorly rotated ears) showed resemblance to the @DISEASE$ (BDLS), but the patient did not fulfill the diagnostic criteria for BDLS.	has_symptom
+62ea13308b8a9108440f022602e27d03fcbb2a08	The current report describes the first case of a very low birthweight infant (1470 g, <3rd centile; 36(+3)gestational weeks) with @PHENOTYPICFEATURE$ and palate cleft with @DISEASE$, resuscitated at birth with a new supraglottic airway device, i-gel size-1, positioned by a trainee paediatrician at first attempt.	has_symptom
+d6acafbf67ee1ca6bd1779f0b09888e674c747cf	Examples of @PHENOTYPICFEATURE$ include 3 cases of Pierre Robin sequence, cerebrocostomandibular syndrome, @DISEASE$, and hypochondrogenesis.	has_symptom
+ff294df0fc5153e611a1431aadc1c395f8ba3c53	The patient with @DISEASE$ had severe primordial growth failure with muscle-skeletal system such as cleft palate, @PHENOTYPICFEATURE$, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.	has_symptom
+aba51aa23e816e13efafd8d8148fc98e3866f380	The patient with @DISEASE$ had severe primordial growth failure with muscle-skeletal system such as @PHENOTYPICFEATURE$, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.	false
+380dc1c4803f2f8de211c2f658c291aafeb85f05	The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as cleft palate, @DISEASE$, and micromelia of the extremities and @PHENOTYPICFEATURE$ as well as characteristic faces such as deep supercilia, etc.	false
+9a17c94c2e2f75921222edc80f991e63858e3e66	The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as @PHENOTYPICFEATURE$, @DISEASE$, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc.	false
+342d5dc6fa719c74497bf90d71c26eac9dc4ef79	The patient with @DISEASE$ had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and @PHENOTYPICFEATURE$ as well as characteristic faces such as deep supercilia, etc.	false
+36a366c196c153df99fdde1e723aef95d75c2683	Patients with @DISEASE$ have many anomalies including @PHENOTYPICFEATURE$ with a small mouth, a high arched palate, and a short neck, which might make laryngoscopy for tracheal intubation difficult during induction of general anesthesia.	has_symptom
+7d9dfbb49cc625660fb59f88828ed4afb96e7d14	During the oral examination of this patient, the patient was found to have the typical symptoms of @DISEASE$, such as @PHENOTYPICFEATURE$ and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.	has_symptom
+c0d3147d4ef87d8580a8eadcf9fd2adbd1b6907a	Severe psychogenic @PHENOTYPICFEATURE$ in a girl with siblings blinded from @DISEASE$.	has_symptom
+f8caa478e9770edf14a48bf8c4e85a37d7db9f0c	@DISEASE$ (CG) is a severe and inherited childhood optical neuropathy that leads to irreversible @PHENOTYPICFEATURE$ and blindness in children.	has_symptom
+d3b2445f53e28073758cb5491d01c99b5bcd58d5	Congenital glaucoma (CG) is a severe and inherited childhood optical neuropathy that leads to irreversible @DISEASE$ and @PHENOTYPICFEATURE$ in children.	false
+f0682e1569c77770e2b568133b7e46459f50fa1e	Congenital glaucoma (CG) is a severe and inherited childhood @DISEASE$ that leads to irreversible visual loss and @PHENOTYPICFEATURE$ in children.	false
+e5ab0b0aaefeead2d82c11159c9d8dab1e4a0983	@DISEASE$ (CG) is a severe and inherited childhood optical neuropathy that leads to irreversible visual loss and @PHENOTYPICFEATURE$ in children.	false
+7067a7e3daf02520e0e17fc916a05b7354320a1e	To determine the long-term visual outcomes and risk factors for @PHENOTYPICFEATURE$ in children with @DISEASE$ (PCG) who underwent angle surgery over a 21-year period.	has_symptom
+9b91eb647ea2108f67f5f4c80e531e91ca8a1a71	Some causes of @PHENOTYPICFEATURE$ (including @DISEASE$ with buphthalmos and retinal detachment, disconjugate gaze due in part to distorted skull development causing strabismic amblyopia, and OPG) were difficult to treat adequately and tended to cause progressive, profound visual loss.	has_symptom
+7ff3896214ff6ac73b215495afe48730a6d9525d	Some causes of visual loss (including @DISEASE$ with buphthalmos and retinal detachment, disconjugate gaze due in part to distorted skull development causing strabismic amblyopia, and OPG) were difficult to treat adequately and tended to cause progressive, profound @PHENOTYPICFEATURE$.	has_symptom
+4a54300f3cb51aa5a9823f2ed7855e7000291494	Mental retardation, @PHENOTYPICFEATURE$, mandibular prognathism with eye and skin anomalies (@DISEASE$): a newly recognized autosomal recessive syndrome.	has_symptom
+c97607b4e3583a6324f31c93ee58221a40d66ac3	@PHENOTYPICFEATURE$, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive @DISEASE$.	false
+75d15758084cf01c0c491b9304fb53be1acb1f63	@PHENOTYPICFEATURE$, @DISEASE$, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.	false
+7cd7a22873cbc30227fc36e460224bd306befd22	@PHENOTYPICFEATURE$, obesity, mandibular prognathism with eye and skin anomalies (@DISEASE$): a newly recognized autosomal recessive syndrome.	false
+e0726ffef5ddabb585d80b2d9d914c6e7d40ee3c	Mutations in the MITF gene have been identified in some patients with @DISEASE$ (WS2), which is a dominantly inherited disorder, characterized by varying combinations of @PHENOTYPICFEATURE$ and pigmentary disturbances.	has_symptom
+a002a816f5d92a2391600f853d2a96eac07803a2	These included staff medical sick leave for febrile illness, inpatient fevers, inpatient pneumonia, atypical @PHENOTYPICFEATURE$, febrile illnesses with significant travel history and sudden unexplained deaths from pneumonia/ @DISEASE$ (ARDS).	has_symptom
+11c00e39ea5cf618e7753f5f03ee312928d2042b	@PHENOTYPICFEATURE$ and @DISEASE$ were the most common complications (38.0 and 7.0% respectively).	has_symptom
+806b54475ca3afbd62b8633b7de886ad2bb9d3b0	Of 209 patients, 4% had lobar @PHENOTYPICFEATURE$, 2% had @DISEASE$ (ARDS), and 2% had pulmonary thromboembolism.	has_symptom
+a11ca12ee441ca2b03f09d09d52f39e947cab349	We identified 10 cases of CPA on HRCT, including 4 Pneumocystis carinii @PHENOTYPICFEATURE$, 1 alveolar proteinosis, 1 usual interstitial pneumonia, 1 pulmonary hemorrhage, 1 acute radiation pneumonitis, 1 @DISEASE$, and 1 drug-induced pneumonitis.	has_symptom
+c4a166ba930f1d734501bef9ffef80ee15eae2b9	Two patients presented with atypical @PHENOTYPICFEATURE$ and two had overwhelming pneumonia resembling @DISEASE$.	has_symptom
+f716a39322c61e8fcb5d5da937af796bb350e15d	A reported association between @DISEASE$, long-segment intestinal aganglionosis (Hirschsprung disease), and @PHENOTYPICFEATURE$, with a high recurrence risk and mortality rate, is associated with abnormal neural crest development (neurocristopathy).	has_symptom
+475bce28f7ffb013aa132b2d3dd1d0517b9abf89	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$, characterized by decreased urate excretion and progressive interstitial nephritis.	has_symptom
+fa6cb37d063e70745580faabe9727873430974fd	We describe the ophthalmologic findings in two cases of @DISEASE$, a rare syndrome characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant @PHENOTYPICFEATURE$.	has_symptom
+6359a73442bbdde226237eb7c31d38b7732a240c	We describe the ophthalmologic findings in two cases of cerebrofaciothoracic dysplasia, a rare syndrome characterized by @PHENOTYPICFEATURE$, multiple malformations of the vertebrae and ribs, and significant @DISEASE$.	false
+c2dd4fd6d40552ce20b30c06750acf8b8bb18bb8	We describe the ophthalmologic findings in two cases of @DISEASE$, a rare syndrome characterized by @PHENOTYPICFEATURE$, multiple malformations of the vertebrae and ribs, and significant mental retardation.	false
+656f41ba13d65bc4595f46f4babce6f14a26c16d	@DISEASE$ (CFT) (OMIM #213980) is a multiple congenital anomaly and @PHENOTYPICFEATURE$ syndrome involving the cranium, face, and thorax.	has_symptom
+dd6f002c5444e6afb61b50d0fe97fbfdbf6ef63e	AIDS-associated @DISEASE$ revealed by new-onset @PHENOTYPICFEATURE$.	has_symptom
+48919e0781543375e79d32f6db94e23afdec7b4e	The presence of @DISEASE$ lesions immediately adjacent to the hemispheric cortex was the only risk factor associated with @PHENOTYPICFEATURE$ in this population.	has_symptom
+cb685be63faed6b1c9796e05050f8e588a0498e0	Little is known about @PHENOTYPICFEATURE$ in natalizumab-associated @DISEASE$ (NAT-PML).	has_symptom
+9a82ebc74976e38bf8fc8d2cdc0d9299c05f01ed	Predictors and characteristics of @PHENOTYPICFEATURE$ in survivors of @DISEASE$.	has_symptom
+dbca0643c93d6efbaaf2fb8bd55d253e5edccd72	Prophylactic antiepileptic treatment reduces @PHENOTYPICFEATURE$ frequency in natalizumab-associated @DISEASE$.	has_symptom
+5b8db4082dcc79034e87b586317cf156ee0a58cb	Of the 17 @DISEASE$ patients with @PHENOTYPICFEATURE$, 15 (88.2%) had HCS compared with 15 of 32 (46.9%) patients without seizures (p=0.006).	has_symptom
+a60ec1ea494db0aeb5835179430131e91069a846	Of the 17 @DISEASE$ patients with seizures, 15 (88.2%) had HCS compared with 15 of 32 (46.9%) patients without @PHENOTYPICFEATURE$ (p=0.006).	has_symptom
+eaa702ec9e7b79e3a5e300ede90a83ffc9545b58	@PHENOTYPICFEATURE$ and their outcome in @DISEASE$.	has_symptom
+fa486232732faf691112095ca80074fc2f86fe55	This study aims to determine the risk factors for epileptogenesis and characteristics of @PHENOTYPICFEATURE$ in patients with progressive multifocal leukoencephalopathy (@DISEASE$) who survive more than 1?year from onset of neurological symptoms (PML survivors).	has_symptom
+ca4d60fb1ff2d8729b278036f8714205f6327781	This study aims to determine the risk factors for epileptogenesis and characteristics of @PHENOTYPICFEATURE$ in patients with @DISEASE$ (PML) who survive more than 1?year from onset of neurological symptoms (PML survivors).	has_symptom
+354e6c224516e83e2ebae9faea90cf908c69956c	Hyperintense cortical signal on magnetic resonance imaging reflects focal leukocortical encephalitis and @PHENOTYPICFEATURE$ risk in @DISEASE$.	has_symptom
+8ce43822fa8891f4e56671fb328c22a93375a6d8	@PHENOTYPICFEATURE$ are not expected in @DISEASE$ (PML), a condition considered to be restricted to the white matter.	has_symptom
+623f3e720fd80a784647419d9a63be48a16a0437	@PHENOTYPICFEATURE$ are not expected in progressive multifocal leukoencephalopathy (@DISEASE$), a condition considered to be restricted to the white matter.	has_symptom
+19a319a564d543fa6e43f2257e7172a8d67dc76e	@DISEASE$, osteomatous jaw and ocular lesions, several @PHENOTYPICFEATURE$, and an abdominal desmoid tumor are the characteristic features of this case.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+16917fe576ccf229e60060e756995496d44a67ab	@PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$.	has_symptom
+ee9a87d163b04f1977eae8ec0580f6606109c4e1	@PHENOTYPICFEATURE$ and bone lesions of the maxilla and mandible are found in more than 70% of patients with @DISEASE$ (FAP).	has_symptom
+c149cf696748879508f18e6b56eb50bd494b6c52	@PHENOTYPICFEATURE$ and bone lesions of the maxilla and mandible are found in more than 70% of patients with familial adenomatous polyposis (@DISEASE$).	has_symptom
+b3b3c04dcf18ee9c1d013a08fb1c83a70867579c	@PHENOTYPICFEATURE$ and bone lesions associated with @DISEASE$: report of cases.	has_symptom
+b1254585eec50f86f2fe08d13fd67d0d18e33130	The pedigree analysis demonstrated five patients in his family who presented with @PHENOTYPICFEATURE$ and osteomas in addition to @DISEASE$.	has_symptom
+d21860de82987d500e44c406bb0eefba6ce624fa	The association of @DISEASE$, osseous and @PHENOTYPICFEATURE$ with fibrosis of mesentery, mesocolon and retroperitoneal tissues is described in a black male.	has_symptom
+287e11cc0e4dbd2615d707ca05677befb5f0a5c3	GS is a variant of @DISEASE$ characterized by extracolonic manifestations including osteomas, @PHENOTYPICFEATURE$, and epidermoid cysts.	has_symptom
+ddeebe4e15786da975d9e0080af118ec9d95ea5d	Gardner syndrome is more of a historical subdivision of @DISEASE$, characterized by osteomas, @PHENOTYPICFEATURE$, epidermal cysts, and soft tissue tumors.	has_symptom
+5ba55c9fd570a76f23174fa6df36dea605db2dc9	Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (@DISEASE$) as well as extraintestinal manifestations such as osteomas, @PHENOTYPICFEATURE$, epidermoid cysts and ocular abnormalities.	has_symptom
+f031cb96074dc6a956ce8e222663507b912df9c3	Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of @DISEASE$ (FAP) as well as extraintestinal manifestations such as osteomas, @PHENOTYPICFEATURE$, epidermoid cysts and ocular abnormalities.	has_symptom
+c4e327b93a6bf4bc16e998c221477a29e34b7353	Toxic epidermal necrolysis syndrome [known also as @DISEASE$] is a severe drug reaction, characterized by @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+030dfd8ef3b954acf453a25dcc1d0b6fcf20954a	This condition, termed the @DISEASE$, appears distinct from other X-linked disorders having @PHENOTYPICFEATURE$, muscle hypoplasia, and spastic paraplegia.	has_symptom
+fd771f367113a55e067fbb4ada66ab9c4c03ae49	Allan Herndon Dudley's syndrome (@DISEASE$) is X-linked @PHENOTYPICFEATURE$ and hypotonia caused by mutations in a thyroid hormone transporter gene - MCT8.	has_symptom
+659b18b3797ab80eaf74de93e50a1a2825e1263c	@DISEASE$, an X-linked condition characterized by severe @PHENOTYPICFEATURE$, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8).	has_symptom
+103b37257cfffecbc02c7f97a222c3ea11f07e6f	Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked @PHENOTYPICFEATURE$ (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (@DISEASE$).	has_symptom
+a5b62a9f7d7b3197055771fb0f47d7e5f59ed2ac	Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked @PHENOTYPICFEATURE$ (XLMR) in patients with clinical features of the @DISEASE$ (AHDS).	has_symptom
+4dde37de9009c5342642739111362967c6965e0b	@DISEASE$ (AHDS), an X linked condition, is characterized by severe @PHENOTYPICFEATURE$, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination with altered TH levels, in particular, high serum T3 levels.	has_symptom
+91d9b3e96fa80f0239747b366d60dd0443e7ca2c	Allan-Herndon-Dudley syndrome (@DISEASE$), an X linked condition, is characterized by severe @PHENOTYPICFEATURE$, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination with altered TH levels, in particular, high serum T3 levels.	has_symptom
+df9290dd2a5437fba4be51058f26c080e043de28	Allan-Herndon-Dudley syndrome (@DISEASE$) is an X-linked type of @PHENOTYPICFEATURE$ resulting from hindered thyroid hormone access to neurons.	has_symptom
+c258491b674d18753120e4eac552e853b9c07402	@DISEASE$ (AHDS) is an X-linked type of @PHENOTYPICFEATURE$ resulting from hindered thyroid hormone access to neurons.	has_symptom
+913fe01583b7134b349defa68db5213eef194c75	Mutations in MCT8 underlie one of the first described X-linked @PHENOTYPICFEATURE$ syndromes, the @DISEASE$.	has_symptom
+daf57354955f11fbe85a79e3375eeeb39f1a92f4	@DISEASE$ was among the first of the X-linked @PHENOTYPICFEATURE$ syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990).	has_symptom
+c88cb880ae56357186b7afc16cf0133097f3264f	The @DISEASE$ (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe @PHENOTYPICFEATURE$, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	has_symptom
+443d95652b4e540b080d8b29fb3078ab06673556	The Allan-Herndon-Dudley syndrome (@DISEASE$) is an X-linked psychomotor retardation characterized by delayed development, severe @PHENOTYPICFEATURE$, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	has_symptom
+73453c863d65f2d1431890141af3dd44cef9ce15	The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe @DISEASE$, @PHENOTYPICFEATURE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+8e8bb7810dd821a8621a83d3c953488eb71410cc	The Allan-Herndon-Dudley syndrome (@DISEASE$) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, @PHENOTYPICFEATURE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+dff03f4d6916f979f3ec42c38a12e31c973baede	The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, @PHENOTYPICFEATURE$, and spastic @DISEASE$, in combination with disturbed thyroid hormone (TH) parameters.	false
+a99e2101552fa1c8049295ee90411a3e3c0909f2	The @DISEASE$ (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, @PHENOTYPICFEATURE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+54f4e65289ccb000512df8d34a67798a67d1ba94	Mutations in a thyroid hormone transmembrane transport protein, monocarboxylate transporter 8 (MCT8), underlie one of the first described X-linked @PHENOTYPICFEATURE$ syndromes, the @DISEASE$.	has_symptom
+fd45b5798a6e5902e6a86431c7a27eb857714544	Complete septate uterus with obstructed hemivagina and ipsilateral @PHENOTYPICFEATURE$ (OHVIRA) in a young woman-a rare variant of Herlyn-Werner-@DISEASE$.	has_symptom
+e2889f3080bca08e31a824c8987b0353e15fc747	This case differs from @DISEASE$, because the onset was very late and her @PHENOTYPICFEATURE$ and atrophy was proximal dominant.	has_symptom
+94bfb1a372ff7a4336b2deec37ff8b8509394074	@DISEASE$ (SJS) is a rare disorder characterized by @PHENOTYPICFEATURE$, kyphoscoliosis, and myotonia.	has_symptom
+aaa630f48ee8279ca3f02ccc27d207a819996c35	Schwartz-Jampel syndrome (@DISEASE$) is a rare disorder characterized by @PHENOTYPICFEATURE$, kyphoscoliosis, and myotonia.	has_symptom
+615328a947f82311ef381e0faf4091dd3878b994	In @DISEASE$ @PHENOTYPICFEATURE$ and jaw muscle rigidity may result in difficult or impossible tracheal intubation.	has_symptom
+6bbfbe75d8c711bc39b7b475aa410682327637fe	In @DISEASE$ micrognathia and jaw @PHENOTYPICFEATURE$ may result in difficult or impossible tracheal intubation.	false
+73bf4c57678d7d6b6197cfd70eee9be2337be74d	In Schwartz-Jampel syndrome @DISEASE$ and jaw @PHENOTYPICFEATURE$ may result in difficult or impossible tracheal intubation.	false
+2643e098612605ba4d73c8ff57e546e3f746d99f	@DISEASE$ (SCD) is associated with serious comorbidities resulting in a shortened lifespan, and many clients suffer from frequent @PHENOTYPICFEATURE$ episodes.	has_symptom
+f64a696639d3bd053b0a8f710b14cc0259c6a86a	@DISEASE$ (SCD) is a genetic disorder of hemoglobin producing hemoglobin-S (HbS) and resulting in recurrent severe episodes of @PHENOTYPICFEATURE$, organ damage and premature death due to vaso- occlusion.	has_symptom
+c69f1edb5da6a974b56bd8891aab42faae93a336	Patients with @DISEASE$ treated with hydroxyurea may have significant reduction in frequency and severity of @PHENOTYPICFEATURE$ episodes.	has_symptom
+9a5b24ab0624012db5e293325b8be35d59827e4b	In the BABY HUG trial, young children with @DISEASE$ randomized to receive hydroxyurea had fewer episodes of @PHENOTYPICFEATURE$, hospitalization, and transfusions.	has_symptom
+fb7ba465ccf08d74dbfb9ccf651597e64dd20080	The rate varied widely within each of these four groups--e.g., 39 percent of patients with @DISEASE$ had no episodes of @PHENOTYPICFEATURE$, and 1 percent had more than six episodes per year.	has_symptom
+d703b26595fd4a5d6e11dc0f68a21757ba59dfc1	Women had significantly lower BP than men, diastolic BP was significantly lower in patients with hemoglobin SS disease than in those with @DISEASE$, and systolic BP was significantly lower in patients with bilateral versus unilateral @PHENOTYPICFEATURE$.	has_symptom
+51866ad39e451f257196e7851f76ce102fc69b98	Chronic skeletal @PHENOTYPICFEATURE$ is caused by a remarkably diverse group of conditions including trauma-induced fracture, osteoarthritis, osteoporosis, low back pain, orthopedic procedures, celiac disease, @DISEASE$ and bone cancer.	has_symptom
+d289ce9d2bf7b67531235606cbb0c36968f723c1	The placebo-controlled trial of HU in adult SS hemoglobinopathy patients (the Multicenter Study of Hydroxyurea in @DISEASE$) reported in May 1995 that HU therapy reduced significantly the frequencies of severe @PHENOTYPICFEATURE$ episodes, acute chest syndrome, and transfusion.	has_symptom
+8efbf84593f9c5214cef8ef8752a1b189e051bf5	Cost-effectiveness of hydroxyurea in reducing the frequency of @PHENOTYPICFEATURE$ episodes and hospitalization in pediatric @DISEASE$.	has_symptom
+1216945d25ec32b99d5158e59c810adf986cf771	@DISEASE$ (SCD), an inherited red blood cell disorder, is characterized by anemia, end-organ damage, unpredictable episodes of @PHENOTYPICFEATURE$, and early mortality.	has_symptom
+393f4091292c84797b701259576f6a00b4505a50	Substance P causes @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+826d38952ba7a7cce75cfe947becee5251c896c6	Risk of @PHENOTYPICFEATURE$ recurrence in patients with @DISEASE$.	has_symptom
+10dfdea5332f63d7815a5ad03567f42ecf2cac53	Electroclinical characteristics of new-onset @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+09c3263730ef45843acb2a7fc2cf098ce21ff0b9	Antiepileptic drugs for @PHENOTYPICFEATURE$ control in people with @DISEASE$.	has_symptom
+09c3263730ef45843acb2a7fc2cf098ce21ff0b9	Antiepileptic drugs for @PHENOTYPICFEATURE$ control in people with @DISEASE$.	has_symptom
+cf0c917f092a89f3a1d194f0a564ab97ada92145	Anticysticercal treatment and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+dc67061a145d0083b3b8cd06e3c54d8dc7f3dac2	The most common symptom in @DISEASE$ is @PHENOTYPICFEATURE$.	has_symptom
+bbbf18b19f450e544eb284606d48fda48e35b756	Not all cases of @DISEASE$ present with @PHENOTYPICFEATURE$.	has_symptom
+8d59e412bf4586a86124d68181e76ef0afc2bd3d	@PHENOTYPICFEATURE$ and @DISEASE$ in black men.	has_symptom
+530d621776cda1aa6a0b1075ca07ec61e65e8c1b	Controversies in the treatment of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+9aa4b21408715de801a2de2a9b3aa3954fc5d1ff	@DISEASE$ (OSCS), @PHENOTYPICFEATURE$ and a characteristic facial appearance is the clinical manifestation in carrier women of an X-linked disease.	has_symptom
+115d56a34d15592c572194b1dac2f551865d2f07	@DISEASE$ (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, @PHENOTYPICFEATURE$, and mild mental retardation.	has_symptom
+e50d17b9babb60e8dc5dca147bb036d3538acf63	@DISEASE$ (OS-CS) is a rare syndrome comprising @PHENOTYPICFEATURE$, minor anomalies, conductive hearing loss, and mild mental retardation.	false
+2cf7c24d7b3afb9547f2addff4b83b2425454ef7	Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising @PHENOTYPICFEATURE$, minor anomalies, @DISEASE$, and mild mental retardation.	false
+e1070ce5049d6650a6c7241221503c9692914591	@DISEASE$ (Langer-Saldino), caused by a genetic defect in the major cartilage matrix protein, collagen type II, is a rare and severe @PHENOTYPICFEATURE$.	has_symptom
+bed362da6c6707ee109190549ad488e56b5425d6	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in @DISEASE$: high forehead, broad nasal bridge, @PHENOTYPICFEATURE$, upslanting palpebral fissures, and micrognathia.	has_symptom
+b031c7ce4222f815a02bb86a434de95b7bb364dc	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in @DISEASE$: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and @PHENOTYPICFEATURE$.	false
+50c416ec08ce600fed7304b20e131f9d207423d2	A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, @DISEASE$, upslanting palpebral fissures, and @PHENOTYPICFEATURE$.	false
+5745d2eb4961b7d3741047895753ec4efaeceaec	A patient with @DISEASE$ showed a decelerated disease progression and an improved @PHENOTYPICFEATURE$, but progressive brain atrophy was not prevented.	has_symptom
+344f08d3a22cbab7fbb61467c3c349f3e2024d44	A patient with @DISEASE$ showed a decelerated disease progression and an improved peripheral neuropathy, but progressive @PHENOTYPICFEATURE$ was not prevented.	false
+22ece75d57aec81f4c117148ec789a30bca0ee6a	A patient with MLD showed a decelerated disease progression and an improved @DISEASE$, but progressive @PHENOTYPICFEATURE$ was not prevented.	false
+504004c99deace82385316055d17ed7411ff76e8	We report the case of a 50-year-old woman and her 32-year-old daughter, both of whom are affected with adult-onset @DISEASE$ (MLD) clinically presenting as @PHENOTYPICFEATURE$.	has_symptom
+a40f5b9f3f7d37879bd4963ee9d474107fca8fa2	We report the case of a 50-year-old woman and her 32-year-old daughter, both of whom are affected with adult-onset metachromatic leukodystrophy (@DISEASE$) clinically presenting as @PHENOTYPICFEATURE$.	has_symptom
+0d90faba2f5da7f85091e48bc3a9003fef704e22	However, histopathological and clinical findings also suggest a role of neuroinflammation in the pathology of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+3bf065344324ac3a4ae838bffe8ce363ecf0d311	@PHENOTYPICFEATURE$ in @DISEASE$: current status and future perspective.	has_symptom
+1c0e7c3c655bd90cc7b298f7304b03911e051830	This may be the first reported case of adult @DISEASE$ presenting as @PHENOTYPICFEATURE$.	has_symptom
+e5a212ef20721cf7d69226125e0edf551342630c	A diagnosis of adult-onset metachromatic leukodystrophy (@DISEASE$) was established in a living 63-year-old man with progressive dementia and @PHENOTYPICFEATURE$.	has_symptom
+5db44e683f754899b056046f10bc405f8097e794	A diagnosis of adult-onset @DISEASE$ (MLD) was established in a living 63-year-old man with progressive dementia and @PHENOTYPICFEATURE$.	has_symptom
+33a227d74ccea74a0cf9c584c15c624e6ddff2fd	Isolated @PHENOTYPICFEATURE$ in atypical @DISEASE$: a recurrent mutation.	has_symptom
+ecd68485eaf26eb92250fdecdaf6fc3005e3d8f8	Adult-onset @DISEASE$ presenting as isolated @PHENOTYPICFEATURE$.	has_symptom
+041e9f8119fbd9afe3b05c88fc582ba16084776c	@DISEASE$ (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and @PHENOTYPICFEATURE$.	has_symptom
+cf1972f064e0c837669b8d79489e59b9f8fb1203	Metachromatic leukodystrophy (@DISEASE$) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and @PHENOTYPICFEATURE$.	has_symptom
+676cccc5323b7deb2be70204205e3474bd547996	@PHENOTYPICFEATURE$ as the sole initial finding in three children with infantile @DISEASE$.	has_symptom
+12d977dd46ed622be3fd83692d8da56d8151da2a	An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, @PHENOTYPICFEATURE$, and mental retardation is presented as an example of the @DISEASE$.	has_symptom
+2498e345f4c415faa09edc6fe5a00523c87db9d8	An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and @PHENOTYPICFEATURE$ is presented as an example of the @DISEASE$.	false
+d0b4f6092a4f18317df8326d3d7c668b456d0292	An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, @DISEASE$, and @PHENOTYPICFEATURE$ is presented as an example of the Johanson-Blizzard syndrome.	false
+d50c2c6a203377fac1584c2f1d5e4f277dad89f2	The @DISEASE$ (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and @PHENOTYPICFEATURE$.	has_symptom
+9b5b459c2cd61f00bd9da8071f81ee2c4b57a421	The Johanson-Blizzard Syndrome (@DISEASE$) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and @PHENOTYPICFEATURE$.	has_symptom
+9bee684037d0e6e645d39195946191b756f565ab	The @DISEASE$ (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, @PHENOTYPICFEATURE$, thin lips, absent permanent dentition and microcephaly.	false
+1088b0927d643aa1b98b689c05bba8830f81bdb2	The Johanson-Blizzard Syndrome (@DISEASE$) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, @PHENOTYPICFEATURE$, thin lips, absent permanent dentition and microcephaly.	false
+c5722ce2137493524971af51a4c6189ddeb33e49	The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, @PHENOTYPICFEATURE$, thin lips, absent permanent dentition and @DISEASE$.	false
+7abb7dd069e891d571de0ce33f50e11443b2b203	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, @PHENOTYPICFEATURE$, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive.	has_symptom
+18649988257c537592c15b87ad36cd9d75c9d12f	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, @DISEASE$, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive.	false
+20b9ae70be896553ad47f5606b5d4a0b6d7c9a6d	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive.	false
+8d8b8a642ab9199cce0a6ca517af7de8096cbae4	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, absent permanent teeth, malabsorption, and failure to thrive.	false
+949f8bb1e57a72bb95ff5bd1ce368c6e82adeeb4	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and @PHENOTYPICFEATURE$.	false
+05887746656c8dbbc898eafd3770c1ec648b2e6d	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, microcephaly, @DISEASE$, absent permanent teeth, malabsorption, and @PHENOTYPICFEATURE$.	false
+750b0911f712aeb9cec3f8ef4ee99bac48eb5dc5	Johanson-Blizzard syndrome is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, deafness, @DISEASE$, hypothyroidism, absent permanent teeth, malabsorption, and @PHENOTYPICFEATURE$.	false
+f0ba0359db61ff17bfc20b9c6ae80536d63e0f50	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to blindness, @PHENOTYPICFEATURE$, and brain death by the age of three.	has_symptom
+491dc14d63e4baaeb5e11f5a5b0d254e1a32ee17	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder @DISEASE$, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @PHENOTYPICFEATURE$, seizures, and brain death by the age of three.	false
+65d8798e12f59575d3459b37742f6689fc55b8b3	Mutations in palmitoyl-protein thioesterase were recently found to cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation of amorphous granular deposits in cortical neurons, leading to @PHENOTYPICFEATURE$, @DISEASE$, and brain death by the age of three.	false
+5ed0366032662531fc6d6900c40828c591639e79	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-@DISEASE$) is a lysosomal storage disorder of infants and children characterized by blindness, @PHENOTYPICFEATURE$ and a progressive neurodegenerative course.	has_symptom
+cd6f78f3b8d09b38e029023ba3ee142140ff04ca	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-Santavuori disease) is a lysosomal storage disorder of infants and children characterized by @PHENOTYPICFEATURE$, @DISEASE$ and a progressive neurodegenerative course.	false
+9667a46a99d7dab0ac73842fed2e263279f6815a	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-@DISEASE$) is a lysosomal storage disorder of infants and children characterized by @PHENOTYPICFEATURE$, seizures and a progressive neurodegenerative course.	false
+a814708fb650256ece496b8d55f8f670b7f66ead	Infantile neuronal ceroid lipofuscinosis (INCL, also known as Haltia-Santavuori disease) is a @DISEASE$ of infants and children characterized by @PHENOTYPICFEATURE$, seizures and a progressive neurodegenerative course.	false
+d9c9ef1acd6dbe6f73438b6c3a885d4422dbf8b1	We present the first two @DISEASE$ patients with malignant @PHENOTYPICFEATURE$ who had defibrillator implantation.	has_symptom
+803ba34f1c92a4957d6d8258a4e22d9bb6434931	High dose BFA-treated cells showed ultrastructural similarities to those seen in the @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+8aec2894dd4414baeef4724947ee9a239700f79f	@DISEASE$ is a very rare @PHENOTYPICFEATURE$ characterized by severe dwarfism with marked micromelia and deformation of the upper and lower limbs, with a proximodistal gradient of severity.	has_symptom
+8b4b365eaf8534b51352b9a67b2b0dbc081dc490	More than 90% of patients with @DISEASE$ (DDS; characterized by renal @PHENOTYPICFEATURE$, gonadal anomaly, and predisposition to WT) show constitutional intragenic WT1 mutations.	has_symptom
+65487df80d93239a231c7656ab4c15c174695f27	@DISEASE$ (DDS) is characterized by early onset @PHENOTYPICFEATURE$, pseudohermaphroditism in males and a high risk for developing Wilm's tumour (WT).	has_symptom
+2b108a1688522234cc7e2d5df36d288a1f4747af	@DISEASE$ (DDS) is characterized by early onset nephropathy, pseudohermaphroditism in males and a high risk for developing Wilm's @PHENOTYPICFEATURE$ (WT).	false
+ee80b648c71d3a0ba7ca5bea1780e66ddb1e651b	Denys-Drash syndrome (DDS) is characterized by early onset @DISEASE$, pseudohermaphroditism in males and a high risk for developing Wilm's @PHENOTYPICFEATURE$ (WT).	false
+97089ff3d7aa5eb71f60faa06f0c80b06f541f3f	Denys-Drash syndrome (DDS) is characterized by early onset nephropathy, pseudohermaphroditism in males and a high risk for developing @DISEASE$'s @PHENOTYPICFEATURE$ (WT).	false
+a599ee8759f60836bf775b03ce39858b447b25b4	@DISEASE$ (DDS) is characterized by genital anomaly, early onset @PHENOTYPICFEATURE$ and high risk for developing Wilms' tumor (WT).	has_symptom
+a948e62a150297e6b2b6c7190f36e6e4a99ff22f	Denys-Drash syndrome (DDS) is characterized by @PHENOTYPICFEATURE$, early onset @DISEASE$ and high risk for developing Wilms' tumor (WT).	false
+1a2e461a73434810075210bbe1c1f899ffc75349	@DISEASE$ (DDS) is characterized by @PHENOTYPICFEATURE$, early onset nephropathy and high risk for developing Wilms' tumor (WT).	false
+0ac9f517edd6f089edf3d33e01dc9ed5f98c2f20	Denys-Drash syndrome (DDS) is characterized by @PHENOTYPICFEATURE$, early onset nephropathy and high risk for developing @DISEASE$ (WT).	false
+4234fc649ff05d5884ec20b3dcf2a2be24fc010c	@DISEASE$ (DDS, Online Mendelian Inheritance in Man number 194080) is a rare human developmental disease generally occurring in 46,XY individuals characterized by the combination of disorder of sex development, early onset @PHENOTYPICFEATURE$, and Wilms' tumor (WT).	has_symptom
+52ea61a09caa6ea0e7165bcf43cde958e2531eb1	@PHENOTYPICFEATURE$ and thrombosis in @DISEASE$: can clinical trials settle the debate?	has_symptom
+abbdd0b9ccf8a4439a7e5dfa016d2c2936f20062	Here are two cases which incidentally presented with splenomegaly and moderate @PHENOTYPICFEATURE$, and were diagnosed as MPN-primary myelofibrosis (PMF) in prefibrotic phase and @DISEASE$ (PV), respectively, using revised World Health Organization (WHO) 2008 criteria.	has_symptom
+4a51f8f6b750c868e0de3068b98bbbe2ebdfa049	@PHENOTYPICFEATURE$ and thrombosis in essential thrombocythemia and @DISEASE$: a systematic review and meta-analysis.	has_symptom
+51f19bc6034808e280cc958ac2ceb619c9d09d25	@DISEASE$, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/@PHENOTYPICFEATURE$ (MCA/MR) syndrome.	has_symptom
+0da12c483f764ecccf3aa5f78068e608902892d0	A three-year-old girl with multiple birth defects, @PHENOTYPICFEATURE$, and aplastic anemia consistent with @DISEASE$ showed Hb AF by electrophoresis; the Kleihauer smear showed Hb F in 70% of her erythrocytes.	has_symptom
+5c2fe18d85a13da3f1c69a17f4eaf14b77a6fd64	Five babies born to anti-SSA/Ro positive mothers all had @DISEASE$ and in one there were various @PHENOTYPICFEATURE$.	has_symptom
+fbaa3dae31e55fa8da6423c30ae286d7fbd234e4	'@DISEASE$ (NLE) describes a clinical spectrum of cardiac and non-@PHENOTYPICFEATURE$ observed in neonates and foetuses whose mothers have the auto-antibodies anti-SSA/Ro (anti-Ro) and anti-SSB/La (anti-La).	has_symptom
+5980b2c74884991b3bd22d9a6dc82a0d2f109358	We report two cases of @DISEASE$, born to asymptomatic mothers with anti-SSA/Ro antibody, who developed isolated complete congenital cardiac heart block and transient second degree conduction defect associated with @PHENOTYPICFEATURE$, respectively.	has_symptom
+ba472e46127291d8935b1e2112dea71d9a63d2f3	@DISEASE$ (NLE) is characterized by persistent congenital complete heart block, often without any other structural @PHENOTYPICFEATURE$.	has_symptom
+35776b4d761a5f666d96bc75c8c48921a3221971	Peripheral @PHENOTYPICFEATURE$ is reported in a juvenile case of Alpers-Huttenlocher disease (@DISEASE$).	has_symptom
+b69e6fdda90b9a045b3c6aec3c1afdc200d1cd2e	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (@DISEASE$), a chronic progressive neurological syndrome characterized by parkinsonism, @PHENOTYPICFEATURE$ and other movement disorders.	has_symptom
+18c1eba34c8e4ebd5ae40de476b28e9d76e2b754	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological @DISEASE$ characterized by parkinsonism, ataxia and other @PHENOTYPICFEATURE$.	false
+5529498cf0e6fa57e229a24880832cfdb9e1efa5	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological syndrome characterized by parkinsonism, @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+482ef66228b44295ca521efcdc5a738a8aa71e25	A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (@DISEASE$), a chronic progressive neurological syndrome characterized by parkinsonism, ataxia and other @PHENOTYPICFEATURE$.	false
+dd755f85d0ed7c4989c00e4ca26158c6676eda01	A proportion of patients with chronic @DISEASE$ develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological syndrome characterized by parkinsonism, ataxia and other @PHENOTYPICFEATURE$.	false
+8b0caafcde638f6b74a5fd5c0b68b59ba96beac4	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes.	has_symptom
+8c0f51cdb4b6e1b278a51907ddc968ef4a7a6eb8	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, mental retardation, hypotonia, cerebellar dysfunction, @DISEASE$, @PHENOTYPICFEATURE$, and stroke-like episodes.	false
+2a135f53a6dec889fb2803cf5da009dd09e2d57b	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, @DISEASE$, mental retardation, hypotonia, cerebellar dysfunction, polyneuropathy, @PHENOTYPICFEATURE$, and stroke-like episodes.	false
+f54e4de99e172bd800c1eb19dbb0c86cb343a947	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, mental retardation, hypotonia, cerebellar dysfunction, polyneuropathy, @PHENOTYPICFEATURE$, and stroke-like episodes.	false
+26d203e16fb2cc7bdd6faaf36d8e46d1a187279f	Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @DISEASE$, hypotonia, cerebellar dysfunction, polyneuropathy, @PHENOTYPICFEATURE$, and stroke-like episodes.	false
+3c0ebba5e9c77282e25159eeb1bb220aace95d6a	@DISEASE$ is a hereditary disorder comprising globodontia and @PHENOTYPICFEATURE$.	has_symptom
+3d2fdc36a63bf66d88b02ab74ef0820e37c67bdb	Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome - an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (@DISEASE$) that spares the incisors, in combination with @PHENOTYPICFEATURE$; oculo-facio-cardio-dental syndrome - an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia - a dominant disorder characterized by teeth whose crowns resemble those of a wolf.	has_symptom
+23881d9bd2159c9bb46fb3afb7c0ba7d93af9ac4	@DISEASE$, a form of ectodermal dysplasia, is characterized by abnormal dental crown morphology and @PHENOTYPICFEATURE$.	has_symptom
+133220e9f8c2fa829a42e311ca03fb92c6495630	@DISEASE$ is an ectodermal dysplasia characterized by abnormal crown morphology of the teeth and @PHENOTYPICFEATURE$.	has_symptom
+8f2a9b2c5a7750bb31f5cb26a6ea2b6394d2de26	@DISEASE$ is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and @PHENOTYPICFEATURE$.	has_symptom
+64029de23d3769e38654c796e004f8567d6495c1	The incidence of @DISEASE$ and the global prevalence of @PHENOTYPICFEATURE$ are both increasing.	has_symptom
+960a0823319ee3186b51d0706db5d986f68e4e80	Presently described is the case of a 23-year-old patient who underwent a diagnostic workup for unilateral leg swelling and was found to have a relatively uncommon cause of @PHENOTYPICFEATURE$: @DISEASE$.	has_symptom
+d0f005a688b379bcf0fe71f083ad5b1d9ccf0e0f	@DISEASE$ of the legs; a syndrome characterized by fat legs and @PHENOTYPICFEATURE$.	has_symptom
+a52658b75bb510a2d3d92f479604bfbb650f97e6	@PHENOTYPICFEATURE$ accumulation is readily demonstrated with plain CT scan and is not present in @DISEASE$.	has_symptom
+e3053b1648c15cd72051f1f90ee36f406a37ace5	@DISEASE$ is a disease characterized by subcutaneous adipose tissue deposition, and although diagnosed very rarely in general cardiology outpatient clinics, it has been demonstrated to be a cause of lower extremity @PHENOTYPICFEATURE$ in approximately one-fifth of cases in specialized clinics.	has_symptom
+3cf259d6019d62737012e75792d08575e4a824a1	@DISEASE$ is a syndrome that is characterised by @PHENOTYPICFEATURE$, an accumulation of fat, pain and haematomas in the lower limbs that principally affects women.	has_symptom
+93fbd22e7ab67a9b14e28e0c5276050f2a2e1825	Subcutaneous @PHENOTYPICFEATURE$ accumulation was demonstrated in 42 legs (95%) with lymphedema and in 5 (42%) with DVT but in none with @DISEASE$.	has_symptom
+67377d833021b6917a9aa79de694e390c739cdcf	@DISEASE$ and physiologic @PHENOTYPICFEATURE$.	has_symptom
+08684d0759629355fa09f65de21e85af70b2cc76	@DISEASE$ is a chronic vascular disease almost exclusively of female sex, characterized by the deposit of fat on the legs, with an "Egyptian column" shape, orthostatic @PHENOTYPICFEATURE$, hypothermia of the skin, alteration of the plantar support, and negativity of Stemmer's sign.	has_symptom
+6cff69183450f5a44fcdc423eac588485ab611f8	@DISEASE$ is the most severe form of mucopolysaccharidosis (MPS) Type 1. Progressive neurocognitive decline in this condition can be accompanied by @PHENOTYPICFEATURE$, ventriculomegaly, and/or periventricular signal changes on MRI, which often leads to a neurosurgical referral.	has_symptom
+5f81dcd458e6861050e95c8e77440f17df61a33f	@DISEASE$ usually manifests as @PHENOTYPICFEATURE$, with hepatopathy, hypotonia, cardiomyopathy, and retinopathy.	has_symptom
+a479342e9d3c7d06c186ba5c8c58d8b08cbacd76	Isolated @DISEASE$ is treatable, but most patients suffer episodic hypoketotic @PHENOTYPICFEATURE$ and rhabdomyolysis.	has_symptom
+8fae6a107ec7c680bd91e761d4baa04573a64acb	Unusual chorioretinal findings should alert the ophthalmologist to the @DISEASE$, especially if there is a history of neonatal @PHENOTYPICFEATURE$ or failure to thrive.	has_symptom
+05dc2b3af8e393fe06cb6efc61641dd842c45671	Unusual chorioretinal findings should alert the ophthalmologist to the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, especially if there is a history of neonatal @DISEASE$ or @PHENOTYPICFEATURE$.	false
+0702b67257dfc6226d8fa04e472fb7993e575226	Unusual chorioretinal findings should alert the ophthalmologist to the @DISEASE$, especially if there is a history of neonatal hypoglycaemia or @PHENOTYPICFEATURE$.	false
+fc471b74554e98d08982aeeee4fb7aa840d31164	The 17-week-old fetus had some features of @DISEASE$, notably "hitchhiker thumbs," a @PHENOTYPICFEATURE$, and midfacial flattening.	has_symptom
+5dbdb6e376507930492239e379941cc6f0e3597c	We report a male infant with @DISEASE$ (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, @PHENOTYPICFEATURE$ and neonatal death from asphyxia.	has_symptom
+4f17f739927a8b1b7da1cc460e96c031033d14b9	We report a male infant with de la Chapelle dysplasia (@DISEASE$), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, @PHENOTYPICFEATURE$ and neonatal death from asphyxia.	has_symptom
+2e4fde2bd5eea477177ff4b4b77e5a67376f7320	We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, @DISEASE$ and neonatal death from asphyxia.	false
+a55002ead13a37ffd6e533862179153a8c92a0cf	We report a male infant with @DISEASE$ (atelosteogenesis type II), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+1f2cfec5f29eb71afe8bd0980943ef10dff9c67d	We report a male infant with de la Chapelle dysplasia (@DISEASE$), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+08ea81545cc73a0fcd35673f5aeac012f3160b4c	We report a case of a patient with @DISEASE$ who presented with bilateral @PHENOTYPICFEATURE$; pleural fluid analysis confirmed chylothorax.	has_symptom
+1408467e68fde401ba6df824b269208e3c7711c2	Among these, 10 presented unilateral @DISEASE$, 4 bilateral cleft lip and palate, and 3 @PHENOTYPICFEATURE$ only.	has_symptom
+ec76ecef633eb7fb2c9841675abb89350de61a92	Among these, 10 presented unilateral cleft lip and palate, 4 bilateral @DISEASE$, and 3 @PHENOTYPICFEATURE$ only.	has_symptom
+06ea7db623df0375b28f23243569e692e14f5413	The children's cleft conditions included @DISEASE$, cleft lip alveolus, cleft palate, and submucous @PHENOTYPICFEATURE$.	has_symptom
+c550e2331a549b278851d3c12a7a5a21c7260378	The children's cleft conditions included @DISEASE$, cleft lip alveolus, @PHENOTYPICFEATURE$, and submucous cleft palate.	has_symptom
+4a87d2aecf6aaf6e56e0d71902f312881b7db0d1	One third had @DISEASE$ or submucous @PHENOTYPICFEATURE$.	has_symptom
+5bd110af1c7fbf702ae51043a40358992b252bce	More patients with @PHENOTYPICFEATURE$ than @DISEASE$ have "cleft syndromes."	has_symptom
+ddbded8dcbc063c8bd67bdd75ac47d9975f1e973	with @DISEASE$, 5 (14.3%) @PHENOTYPICFEATURE$.	has_symptom
+4850e8183f3476befaf023e02c5184d292758e75	Eight patients had unilateral @DISEASE$, eight had bilateral cleft lip and palate, and six had @PHENOTYPICFEATURE$.	has_symptom
+0d0a331aef63e7a7a524cae6e26e1a0d80cbebf1	Eight patients had unilateral cleft lip and palate, eight had bilateral @DISEASE$, and six had @PHENOTYPICFEATURE$.	has_symptom
+5ee357939f309899f3351294430df8dabf68868d	Velopharyngeal insufficiency was more frequent in @DISEASE$ than in @PHENOTYPICFEATURE$.	has_symptom
+a9ab628d1adec91f9a87c274c753ea8d00ae5aa2	Infants with cleft lip and palate or @PHENOTYPICFEATURE$ were unable to generate negative pressure before @DISEASE$ closure.	has_symptom
+ce10bf9d04bef3e2025828055a2bc300849c9a4f	Infants with @DISEASE$ or @PHENOTYPICFEATURE$ were unable to generate negative pressure before cleft lip and palate closure.	has_symptom
+be4cd2f29fc015c1e0cf7a0711ce05f654778b2e	Cleft phenotypes included bilateral @DISEASE$ (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated @PHENOTYPICFEATURE$ (9%).	has_symptom
+24328a2698f2a8729239c914c8256d7b4c09b2c9	Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral @DISEASE$ (32%); submucous @PHENOTYPICFEATURE$ (23%); and isolated cleft hard and soft palate (9%).	has_symptom
+a4ceb5ef9d66a71bc81d744a5f91c3ed4f271ace	Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral @DISEASE$ (32%); submucous cleft palate (23%); and isolated @PHENOTYPICFEATURE$ (9%).	has_symptom
+18159b52966d01762db16b40d56a7566da14d161	Cleft phenotypes included bilateral @DISEASE$ (32%); unilateral cleft lip and palate (32%); submucous @PHENOTYPICFEATURE$ (23%); and isolated cleft hard and soft palate (9%).	has_symptom
+a6e659d82a2d11d3cf90fdff3fdf1efce55ca513	Results Forty-five percent had isolated @PHENOTYPICFEATURE$, 34% had unilateral @DISEASE$, and 21% had bilateral cleft lip and palate.	has_symptom
+db17373c737b6b5ed83de2abb16ab0a176643439	Results Forty-five percent had isolated @PHENOTYPICFEATURE$, 34% had unilateral cleft lip and palate, and 21% had bilateral @DISEASE$.	has_symptom
+ee63cc748bb8331ef4574f2acb576ffa3301f220	Chronic idiopathic hyperphosphatasemia, or @DISEASE$ is a very rare syndrome that is characterized by fragile bones, bowing deformities, shortness of stature, @PHENOTYPICFEATURE$, premature loss of teeth, radiographic evidence of expanded osteoporotic long bones with coarse trabeculations, and widened bones of the skull.	has_symptom
+df428389ec3445ada0c8ba9c407ecfb84df7d594	Ventilation tube insertion is not effective to the treatment of @PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$.	has_symptom
+3a610db4c101ae64e1f6f5e6f42b139df460c254	@PHENOTYPICFEATURE$ in patients with @DISEASE$ (a report of two cases).	has_symptom
+296bbff4f32c9d2a63095965dcc09bab715b1df5	@DISEASE$ is a rare developmental malformation syndrome with a high prevalence of @PHENOTYPICFEATURE$.	has_symptom
+0f7ab918b7a4a5085def7f0bd09ffa25f8d5a338	In addition, a positive reaction was found in 2/10 @DISEASE$, 2/14 primitive neuroectodermal tumors, 1/11 pituitary tumor, 2/21 schwannomas and 2/11 @PHENOTYPICFEATURE$ metastases; however, oligodendrogliomas and primary malignant lymphomas were not stained.	has_symptom
+0f64d1a1a5d10ea241d967e5d8bd7e99baebb58a	Alterations of HuD and Hel-N1 structure are associated with small cell @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+5684eb75f7ed41f488a8151410a58c5cae675917	KIF14 was expressed in 4/4 breast cancer cell lines 31-92-fold higher than in normal breast tissue, in 5/5 @DISEASE$ cell lines 22-79-fold higher than in fetal brain, and in 10/22 primary @PHENOTYPICFEATURE$ 3-34-fold higher than in normal lung.	has_symptom
+04c6350e7c7bf9134dd3e9c4164efd456c4c9153	Unilateral @PHENOTYPICFEATURE$ and vitreoretinopathy in a case with @DISEASE$.	has_symptom
+49ce4b0f52b0f175d7d2001993a485b15d436591	Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (@DISEASE$, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, @PHENOTYPICFEATURE$, and central nervous system and bone involvement.	has_symptom
+0f9cc9475342278da92d21d42224fab5ef86dc8a	@PHENOTYPICFEATURE$ in MWS, and provocation of symptoms by cold in @DISEASE$, are distinctive features.	has_symptom
+a7f031adf3de83420b904618fad0f5edee198d78	@DISEASE$ (ADPKD) is an inherited disorder, and it is mainly associated with @PHENOTYPICFEATURE$ formation.	has_symptom
+f5eae0861fdfb1bdfb58a386f7e30c292e207e8a	Autosomal dominant polycystic kidney disease (@DISEASE$) is an inherited disorder, and it is mainly associated with @PHENOTYPICFEATURE$ formation.	has_symptom
+650a2f1247fb2961fe5921d6e2cb17dcddc3eb89	@PHENOTYPICFEATURE$ infection is one of the complications faced by patients with @DISEASE$ (ADPKD).	has_symptom
+c8ad81bdec2285dc730d33eb57df9a2e8b184ae6	@PHENOTYPICFEATURE$ infection is one of the complications faced by patients with autosomal dominant polycystic kidney disease (@DISEASE$).	has_symptom
+9afbfdf96d4af8de2ff2d25f9052273353da37bd	Bilateral @PHENOTYPICFEATURE$ formation is the main feature of autosomal dominant polycystic kidney disease (@DISEASE$).	has_symptom
+8612df1da368868a926b23d80121829a158cbd8b	Bilateral @PHENOTYPICFEATURE$ formation is the main feature of @DISEASE$ (ADPKD).	has_symptom
+940308afaf09c9db044fefdc86dd3c9cfaacc073	Macroscopic haematuria secondary to @PHENOTYPICFEATURE$ rupture is a frequent complication in autosomal dominant polycystic kidney disease (@DISEASE$).	has_symptom
+0b6b9016e317ffbe7d49711bc5091e4e0838a431	Macroscopic haematuria secondary to @PHENOTYPICFEATURE$ rupture is a frequent complication in @DISEASE$ (ADPKD).	has_symptom
+ec11a4338cdb67dc22e654ed5b6237f92d1080d4	@DISEASE$ (ADPKD) is characterized by numerous fluid-filled @PHENOTYPICFEATURE$.	has_symptom
+24238e13b9c2acf3dea40bc59f14424cc0ee2c47	Autosomal-dominant polycystic kidney disease (@DISEASE$) is characterized by numerous fluid-filled @PHENOTYPICFEATURE$.	has_symptom
+e4a08de0292397b6b430ebc20e3a949646e2e2d6	In patients with @DISEASE$ (ADPKD), @PHENOTYPICFEATURE$ grow exponentially.	has_symptom
+d9986d3bb0300cdded50c07b2dae58928b7f5eac	In patients with autosomal dominant polycystic kidney disease (@DISEASE$), @PHENOTYPICFEATURE$ grow exponentially.	has_symptom
+c2cc991fd07e5faf5b6fd99d5184a64cc4cd5ccd	@DISEASE$ (ADPKD) is characterized by @PHENOTYPICFEATURE$ formation, inflammation, and fibrosis.	has_symptom
+84f0e1f4952c34066d800604497f40728fe6ed7e	Autosomal dominant polycystic kidney disease (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ formation, inflammation, and fibrosis.	has_symptom
+93d68211470f08621f8b8ab6af4a95d7767ca23c	Autosomal dominant polycystic kidney disease (@DISEASE$) is a systemic disorder mainly characterized by @PHENOTYPICFEATURE$ formation.	has_symptom
+6591a06b7693069526ed024b831d85e4c9db7692	@DISEASE$ (ADPKD) is a systemic disorder mainly characterized by @PHENOTYPICFEATURE$ formation.	has_symptom
+14591c631222daee5bb843813e50f6740416b5cf	@DISEASE$ (ADPKD) is a chronic affliction characterized by numerous liver and @PHENOTYPICFEATURE$.	has_symptom
+e3a2bf0f7bb6dca4787a044d16d209064af30c43	Autosomal Dominant Polycystic Kidney Disease (@DISEASE$) is a chronic affliction characterized by numerous liver and @PHENOTYPICFEATURE$.	has_symptom
+6f1d45d76bedf510c8c3fce354887818cf14d728	@PHENOTYPICFEATURE$ infection is a serious complication in patients with @DISEASE$ (ADPKD).	has_symptom
+64680723a995dfaf1cc3d35012682718ff7c4f19	@PHENOTYPICFEATURE$ infection is a serious complication in patients with autosomal dominant polycystic kidney disease (@DISEASE$).	has_symptom
+d0f08b489ce8a4bca037f4d207a5693fae429099	In @DISEASE$ patients presenting with an abrupt aggravation of jaundice, pain, fatigue, pruritus, @PHENOTYPICFEATURE$, or worsening liver biochemistries, CCA should be suspected and evaluated utilizing a variety of diagnostic modalities.	has_symptom
+4ae17fcf89ab676e22b1e505e9f3120c2c7f5920	Most @DISEASE$ patients are asymptomatic at presentation; clinical symptoms include fatigue, jaundice, @PHENOTYPICFEATURE$, right upper quadrant pain and pruritis.	has_symptom
+d265145bd2d3c0e4dee237fb31f5dd1c1c757af0	Manifestations common to both @DISEASE$-1 and Feingold syndrome-2 include microcephaly, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	has_symptom
+9dae80a70e7b2e323ed20f869411f59161ade908	Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with @DISEASE$-2 lack gastrointestinal atresias.	has_symptom
+148eb7709f3e17449a6fcc5d8a2996d1a4fcc81e	Manifestations common to both Feingold syndrome-1 and @DISEASE$-2 include microcephaly, @PHENOTYPICFEATURE$, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	has_symptom
+4b4d672fbaa10cef0c6cd36ceec7769e3817e5ed	Manifestations common to both @DISEASE$-1 and Feingold syndrome-2 include @PHENOTYPICFEATURE$, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	false
+666e1285bc822244cd5c2d3d6f940040a7cc9446	Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include @PHENOTYPICFEATURE$, short stature, and brachymesophalangy; but those with @DISEASE$-2 lack gastrointestinal atresias.	false
+c0d9d08f120dad8f5bbdfd0ba158395277647877	Manifestations common to both Feingold syndrome-1 and @DISEASE$-2 include @PHENOTYPICFEATURE$, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	false
+56c06424ba1f224ca8553a4b17c06a4906bf0eba	Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include @PHENOTYPICFEATURE$, @DISEASE$, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias.	false
+e21d590d05347d62bb3540f2298e98bb88045e53	We suggest that @PHENOTYPICFEATURE$ is likely to be a phenotypic feature of @DISEASE$.	has_symptom
+37942ededd6aaf2894e2ebf0c5e17ffc425b3420	Germline deletions and mutations of MYCN cause @DISEASE$ 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, @PHENOTYPICFEATURE$, dysmorphic features, and intellectual disability.	has_symptom
+3b5bbaf5eee021a3830b09f2cf7b217924de7baf	Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by @PHENOTYPICFEATURE$, digit anomalies, gastrointestinal atresias, @DISEASE$, dysmorphic features, and intellectual disability.	false
+8db2eedb664b1a821e2fd861cf07b39d9b8ce37d	Germline deletions and mutations of MYCN cause @DISEASE$ 1 (FS1), a rare disorder characterized by @PHENOTYPICFEATURE$, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and intellectual disability.	false
+fb1d5c35a637c95a40e75e3fdf95ebb7a71484dc	Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, @DISEASE$, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+6fb14f1be95c450d4c93df286429500670e54145	Germline deletions and mutations of MYCN cause @DISEASE$ 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+828690ff3868ea054aa2d56191da00497703bdc4	Germline hemizygous deletions of MIR17HG are accounted for microcephaly, @PHENOTYPICFEATURE$, and digital abnormalities in a few cases of @DISEASE$.	has_symptom
+8ec10d5dbb9060d826a0a5f0ea2e349b09285425	Germline hemizygous deletions of MIR17HG are accounted for @PHENOTYPICFEATURE$, @DISEASE$, and digital abnormalities in a few cases of Feingold syndrome.	false
+6f283cc9b1fa3bcb5e074cfddddeff1d12267f5e	Germline hemizygous deletions of MIR17HG are accounted for @PHENOTYPICFEATURE$, short stature, and digital abnormalities in a few cases of @DISEASE$.	false
+e1d848fa439294fbe24eff37416afc7f1f5fb0d4	@DISEASE$ (FS) is an autosomal dominant disorder characterized by microcephaly, @PHENOTYPICFEATURE$, digital anomalies, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities.	has_symptom
+c810c24d9673f1cfb9175ab18c0d8896862bc8ff	@DISEASE$ (FS) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, short stature, digital anomalies, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities.	false
+f5c7cce47a2a8f13a088b8e5bdcb6d32ce32f019	Feingold syndrome (FS) is an autosomal dominant disorder characterized by microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities.	false
+e85207daed0bafc3df2b1ca19fa672d762f2d7b6	Feingold syndrome (FS) is an autosomal dominant disorder characterized by microcephaly, @DISEASE$, digital anomalies, esophageal/duodenal atresia, @PHENOTYPICFEATURE$, and various learning disabilities.	false
+3a20f186b03296456bffade221325b8158216a32	Feingold syndrome (FS) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, digital anomalies, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities.	false
+917446b0ea75c5d410a27116eb1b5e817d54c4c9	@DISEASE$ (FS) is an autosomal dominant disorder characterized by microcephaly, short stature, @PHENOTYPICFEATURE$, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities.	false
+e09acea4b411d3a1ac681a7b114612d4df3a282e	@DISEASE$ (FS) is an autosomal dominant disorder characterized by microcephaly, short stature, digital anomalies, esophageal/duodenal atresia, @PHENOTYPICFEATURE$, and various learning disabilities.	false
+bfdf4292f0e2d65d2959355de667e55d3533f164	@DISEASE$ (CMT) is the most common inherited @PHENOTYPICFEATURE$.	has_symptom
+bfdf4292f0e2d65d2959355de667e55d3533f164	@DISEASE$ (CMT) is the most common inherited @PHENOTYPICFEATURE$.	has_symptom
+6895cb93338adfcf9b1018bea9feb6abe4edbe29	The clinical phenotype is consistent with @DISEASE$ @PHENOTYPICFEATURE$ in all patients.	has_symptom
+4e0fca6ccbba24d442f212ce5b3cec490f22769c	@DISEASE$ (CMT) is the most commonly inherited @PHENOTYPICFEATURE$.	has_symptom
+4e0fca6ccbba24d442f212ce5b3cec490f22769c	@DISEASE$ (CMT) is the most commonly inherited @PHENOTYPICFEATURE$.	has_symptom
+5bd68ec58f2839f475d009929fa924b5c75dae98	@DISEASE$ (CMT) is a length-dependent @PHENOTYPICFEATURE$.	has_symptom
+aff67264d965f4a8250522153914951d2caa7db9	Charcot-Marie-Tooth (@DISEASE$) disease is a common inherited @PHENOTYPICFEATURE$.	has_symptom
+bfdf4292f0e2d65d2959355de667e55d3533f164	@DISEASE$ (CMT) is the most common inherited @PHENOTYPICFEATURE$.	has_symptom
+cbfe2b5a50e26e941a4c1c9d54c6deea9b1d178d	@DISEASE$ (CMT) is a common heritable @PHENOTYPICFEATURE$.	has_symptom
+4e0fca6ccbba24d442f212ce5b3cec490f22769c	@DISEASE$ (CMT) is the most commonly inherited @PHENOTYPICFEATURE$.	has_symptom
+95f4c6a9473f86f1f04891f559cce1d8e6d738c9	@DISEASE$, also called @PHENOTYPICFEATURE$ Cholestasis Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.	has_symptom
+de79ac7a95c9687b1dbff836aaef076f529bed5c	Aagenaes syndrome, also called Lymphedema @PHENOTYPICFEATURE$ Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with @DISEASE$ of the lower extremities.	false
+bb6e34378cd9c8f9981d6e9689dec37304d83e28	@DISEASE$, also called Lymphedema @PHENOTYPICFEATURE$ Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.	false
+c30c90a3b85f484d66d25e1dd7b6723b1e32e493	Aagenaes syndrome, also called Lymphedema @PHENOTYPICFEATURE$ Syndrome (LSC 1), is a form of idiopathic @DISEASE$ associated with lymphedema of the lower extremities.	false
+4b0a8bb10e020eaedeb1c76424fa0c6333542fad	Aagenaes syndrome, also called Lymphedema @PHENOTYPICFEATURE$ @DISEASE$ (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.	false
+444567a85a3756ca95ff37630f616d2d223cf22c	Aagenaes syndrome, also called @DISEASE$ @PHENOTYPICFEATURE$ Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.	false
+15831395746e02318d145482bd6da521ff455100	@PHENOTYPICFEATURE$ @DISEASE$ and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.	has_symptom
+522648347f82343ac1bc361f051170cd8ae8902b	Goitrous @DISEASE$ and @PHENOTYPICFEATURE$ associated with mutations in the TPO and SLC26A4/PDS genes.	false
+2881ccaeb0ca5447e4d2176bc8efd93c8709a591	@DISEASE$ congenital hypothyroidism and @PHENOTYPICFEATURE$ associated with mutations in the TPO and SLC26A4/PDS genes.	false
+7b418dea48f6cb01f8bd4a9b4cbb9d96ca1bbae9	Goitrous congenital hypothyroidism and @PHENOTYPICFEATURE$ associated with mutations in the TPO and SLC26A4/@DISEASE$ genes.	false
+f251381586d84d8bdd3c3d88a7c022f65296242e	@DISEASE$ is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, @PHENOTYPICFEATURE$, and abducted thumbs and toes.	has_symptom
+3144085ef7f37d001abcea8daa6402ceafe881d1	Smith-Lemli-Opitz (@DISEASE$) syndrome is an autosomal recessive disorder comprised of recognizable facial abnormalities, growth retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and @PHENOTYPICFEATURE$.	has_symptom
+32bedfd905237708878e72976268af676864d1c8	Smith-Lemli-Opitz (SLO) @DISEASE$ is an autosomal recessive disorder comprised of recognizable facial @PHENOTYPICFEATURE$ retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and cleft palate.	false
+ed044d436d510729d3c0923a32432600d04b9530	Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder comprised of recognizable facial @PHENOTYPICFEATURE$ retardation, and multiple @DISEASE$, commonly involving genitalia, second and third toe syndactyly, and cleft palate.	false
+b63a65446d1133f5df062406d072a3553573866c	Smith-Lemli-Opitz (@DISEASE$) syndrome is an autosomal recessive disorder comprised of recognizable facial @PHENOTYPICFEATURE$ retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and cleft palate.	false
+487a90a8215b273248d90d5edc0d0f88e4dc56b0	Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder comprised of recognizable facial @PHENOTYPICFEATURE$ retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and @DISEASE$.	false
+466d202bed7a9e87b3d4c71fa2c8928e55969305	It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked @PHENOTYPICFEATURE$, Van der Woude syndrome, @DISEASE$, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome.	has_symptom
+50b3a69af38466189629d6ca63f1448e5b7ae657	We report an infant with characteristics of @DISEASE$ who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, @PHENOTYPICFEATURE$, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	has_symptom
+cdc4fd132e09624e935981b795286c0799f6677f	We report an infant with characteristics of @DISEASE$ who had anteverted nostrils, apparently low-set ears, @PHENOTYPICFEATURE$, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	false
+bcebf2f9e465acb35986e7e27406f66e13b56808	We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, @PHENOTYPICFEATURE$, high-arched palate, @DISEASE$, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	false
+4020f9e0cbad037c2a00391a54ae9ad51323b552	We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, @PHENOTYPICFEATURE$, high-arched @DISEASE$, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter.	false
+269b05b9230836d9b077d0ada83197d20a9156a9	Children with @DISEASE$ present with specific facial dysmorphism and have multiple congenital anomalies including @PHENOTYPICFEATURE$, congenital heart disease, genitourinary anomalies, and limb abnormalities.	has_symptom
+f2cb490ee0b83bf5d3b6eb2b1d157e4389be75a8	Children with SLOS present with specific facial dysmorphism and have multiple congenital anomalies including cleft palate, @DISEASE$, genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+bf2a0b72d209ed9c6d7234985650d01ccc25fd80	Children with SLOS present with specific facial dysmorphism and have multiple @DISEASE$ including cleft palate, congenital heart disease, genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+27c2fbecd4553675e191a0302b2462c606278ba3	Children with SLOS present with specific facial dysmorphism and have multiple congenital anomalies including @DISEASE$, congenital heart disease, genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+7b51164b2e2b5ae35055231dd2d1dc711a3288a3	Children with SLOS present with specific @DISEASE$ dysmorphism and have multiple congenital anomalies including cleft palate, congenital heart disease, genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+a8c3c0866d87232b2d50dad4e2f2cb4dca4f9745	Children with @DISEASE$ present with specific facial dysmorphism and have multiple congenital anomalies including cleft palate, congenital heart disease, genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+4dc60d65e4d44f97f8840a649ef5dbf67a54468c	@DISEASE$, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual @PHENOTYPICFEATURE$, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism.	has_symptom
+ae82a7561e3d12ff022ac4c2ea50b0c1a2a3964e	Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, @PHENOTYPICFEATURE$, and male @DISEASE$.	false
+10ac276625f9a0da9af59f591cecbed671109c73	Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, @PHENOTYPICFEATURE$, renal anomalies, and male @DISEASE$.	false
+ec09d41c8847dac5528e884b4161fe5e420b3bdc	@DISEASE$, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, @PHENOTYPICFEATURE$, and male pseudohermaphroditism.	false
+24b07b999d3a992046b76afc519d6b954c234d97	Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual @DISEASE$, postaxial polydactyly, @PHENOTYPICFEATURE$, renal anomalies, and male pseudohermaphroditism.	false
+3d4cefb5b09a5429a8c32cc977b08679a5aa1795	Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual @DISEASE$, postaxial polydactyly, congenital heart defects, @PHENOTYPICFEATURE$, and male pseudohermaphroditism.	false
+c21cced772e49606c2333c3effb79ab5bee241a2	@DISEASE$, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, @PHENOTYPICFEATURE$, renal anomalies, and male pseudohermaphroditism.	false
+ca00d990796ad506fabafc1d78b2e4aa13644a48	Since @PHENOTYPICFEATURE$ is generally observed in the @DISEASE$, a common syndrome of multiple congenital anomalies caused by reduced activity of 7-dehydrocholesterol delta 7-reductase (3 beta-hydroxysteroid delta 7-reductase), the final enzyme in the cholesterol biosynthetic pathway, YM 9429 was suspected of being an inhibitor of this enzyme.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+8afa896bff41a321df33d23c7d9b6a98c7c59d27	NTDs include @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+71aec22b60ef04c338b9de03f99e009048eafb24	[Prevention of @DISEASE$-@PHENOTYPICFEATURE$].	has_symptom
+68bde8b1d791b7ef9a8246956347d464c879da94	Placentation, @DISEASE$, and @PHENOTYPICFEATURE$.	has_symptom
+88f2b202d2a9b5f0841b9bd5c53bb0757f5bab9c	@DISEASE$ is characterized by midline abnormalities such as hypertelorism, @PHENOTYPICFEATURE$, and hypospadias.	has_symptom
+d4e0ec99ca85b143f2fc30db5d2e5e2a93a3ea1b	Opitz G/BBB syndrome is characterized by midline abnormalities such as @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$.	false
+a3c805cb0da5d88bf6a9731d4ccc8af12c13ed7c	@DISEASE$ is characterized by midline abnormalities such as @PHENOTYPICFEATURE$, cleft palate, and hypospadias.	false
+ec36645dbf33e97e31a779abb93ca7449c1ba8b2	Opitz G/BBB syndrome is characterized by midline abnormalities such as @PHENOTYPICFEATURE$, @DISEASE$, and hypospadias.	false
+3afd0e0d04c921bbcee063ea54b81e4ca34afefa	@DISEASE$ is a genetic disorder characterized by developmental midline abnormalities, such as hypertelorism, @PHENOTYPICFEATURE$, and hypospadias.	has_symptom
+47d23eb5602a0493d33b33e6ee2d8716f128bc0f	Opitz G/BBB syndrome is a genetic disorder characterized by developmental midline abnormalities, such as @PHENOTYPICFEATURE$, @DISEASE$, and hypospadias.	false
+838a837c7fbbd5c3ebe101b176ea25c357924f86	Opitz G/BBB syndrome is a genetic disorder characterized by developmental midline abnormalities, such as @PHENOTYPICFEATURE$, cleft palate, and @DISEASE$.	false
+a0d0cf7c19840d604966c2e1664bc4890face39e	Opitz G/BBB syndrome is a @DISEASE$ characterized by developmental midline abnormalities, such as @PHENOTYPICFEATURE$, cleft palate, and hypospadias.	false
+276739b51af37e1a4f04b032d7822efdf8101300	@DISEASE$ is a genetic disorder characterized by developmental midline abnormalities, such as @PHENOTYPICFEATURE$, cleft palate, and hypospadias.	false
+472c218e0c7f3dda9bf0b239beac5613f571a8e3	@DISEASE$ (OS) is a human genetic disease characterized by deformities such as @PHENOTYPICFEATURE$ that are attributable to defects in embryonic development at the midline.	has_symptom
+564fd42726d272b7b767b3201733ddd0ec5c569d	The X-linked form of @DISEASE$ (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental retardation, hypertelorism, broad nasal bridge, widow's peak, cleft lip/@PHENOTYPICFEATURE$, congenital heart disease, laryngotracheal defects, and hypospadias.	has_symptom
+1c9f5f08df87ae0896bf155c7e03a35f892b90f0	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental retardation, @PHENOTYPICFEATURE$, broad nasal bridge, widow's peak, cleft lip/@DISEASE$, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+c2328cbc41444eee7ba847f278946d8c68b83447	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include @PHENOTYPICFEATURE$, hypertelorism, broad nasal bridge, widow's peak, cleft lip/cleft palate, @DISEASE$, laryngotracheal defects, and hypospadias.	false
+c931037ab67ebdbf5fde37de88a49ab4e259157e	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include @PHENOTYPICFEATURE$, hypertelorism, broad nasal bridge, widow's peak, cleft lip/cleft palate, congenital heart disease, laryngotracheal defects, and @DISEASE$.	false
+3e3b593682769cc3607a6a4dd9fdf7b4c32ccad8	The X-linked form of @DISEASE$ (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental retardation, @PHENOTYPICFEATURE$, broad nasal bridge, widow's peak, cleft lip/cleft palate, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+f58348aea2597bbd2998df6ebe83d45a4f2aa556	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental retardation, @PHENOTYPICFEATURE$, broad nasal bridge, widow's peak, cleft lip/cleft palate, @DISEASE$, laryngotracheal defects, and hypospadias.	false
+ca70f2e8acc588615c5a6fc8a383afbea9a6158b	The X-linked form of @DISEASE$ (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include @PHENOTYPICFEATURE$, hypertelorism, broad nasal bridge, widow's peak, cleft lip/cleft palate, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+7ddb7c360fb7ccd041bbb83be8741aaa789b7dde	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include @PHENOTYPICFEATURE$, hypertelorism, broad nasal bridge, widow's peak, cleft lip/@DISEASE$, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+62a4875bb9247af9a6b7553b85d1439bd6ac66e5	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental retardation, @PHENOTYPICFEATURE$, broad nasal bridge, widow's peak, @DISEASE$/cleft palate, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+73c16872594b9d8fc80411e3be70cfa3b0af00c6	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include @PHENOTYPICFEATURE$, hypertelorism, broad nasal bridge, widow's peak, @DISEASE$/cleft palate, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+721eb8124f69d3c385ab91981ff39a0b714fc267	The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental retardation, @PHENOTYPICFEATURE$, broad nasal bridge, widow's peak, cleft lip/cleft palate, congenital heart disease, laryngotracheal defects, and @DISEASE$.	false
+81a608e0491555acb7bb3ccaebb5f53f273952b8	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, @PHENOTYPICFEATURE$, a thin upper lip, a grooved chin, and a left preauricular cyst.	has_symptom
+0a693276dbb2a0ec226f1f6f5f1899456bc2b342	We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, @PHENOTYPICFEATURE$, long palpebral fissures, @DISEASE$, a thin upper lip, a grooved chin, and a left preauricular cyst.	false
+3918ba6074e8ce0b8a37a6a11468bd810908f25e	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, @PHENOTYPICFEATURE$, long palpebral fissures, ptosis, a thin upper lip, a grooved chin, and a left preauricular cyst.	false
+0fc2ee8e060e5e1f782ba122c40a772c4f37abf3	We report on a 4 1/2-year-old girl with clinical features of Teebi hypertelorism syndrome (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, @DISEASE$, a @PHENOTYPICFEATURE$, a grooved chin, and a left preauricular cyst.	false
+6b5764201938a9e0bad3ef07c6e5922e6911444d	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a @PHENOTYPICFEATURE$, a grooved chin, and a left preauricular cyst.	false
+9d07e965176187370ab9e94cd4dbcfbc597eac77	Preeclampsia, @DISEASE$, @PHENOTYPICFEATURE$, and antiphospholipid antibodies-reply.	has_symptom
+97723559c3c299c95e535c596cad596961e65941	Preeclampsia, @DISEASE$, @PHENOTYPICFEATURE$, and antiphospholipid antibodies.	has_symptom
+defead80856806dce5b0ea60d778c063b1cb663d	Elsahy-Waters or @DISEASE$ is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, @PHENOTYPICFEATURE$/telechantus, broad nose, concave nasal ridge, underdeveloped midface, prognathism, and radicular dentin dysplasia.	has_symptom
+5f28d432ee30b8b6b14cd2a46f4b6489791fb10d	The paper presents the electromyographic (EMG) findings of the soft palate in three patients: a patient with @DISEASE$ and @PHENOTYPICFEATURE$, a patient with palatal asymmetry and rhinolalia and a patient with vertical oro-ocular facial cleft with marked asymmetry of the cleft palate.	has_symptom
+f639fcf0ac7940aeae4f4acb74c9d428ceccb021	The paper presents the electromyographic (EMG) findings of the soft palate in three patients: a patient with @DISEASE$ and cleft palate, a patient with palatal asymmetry and rhinolalia and a patient with vertical oro-ocular facial cleft with marked asymmetry of the @PHENOTYPICFEATURE$.	has_symptom
+c689993f4282d105b1f6a3830d30caa45bd18c11	A 53-year-old Japanese man presented with generalized lentigines, @PHENOTYPICFEATURE$, gonadal hypoplasia, endocrine abnormality, mental retardation and skeletal abnormalities, and was consequently diagnosed as @DISEASE$.	has_symptom
+4fd7d74cae5305e26314c4bdd5edb710d7af629d	A 53-year-old Japanese man presented with generalized lentigines, @DISEASE$, gonadal hypoplasia, endocrine abnormality, mental retardation and @PHENOTYPICFEATURE$, and was consequently diagnosed as LEOPARD syndrome.	false
+a90958cdda06855791446b3cdab24d2100016e5b	A 53-year-old Japanese man presented with generalized lentigines, @DISEASE$, gonadal hypoplasia, endocrine abnormality, @PHENOTYPICFEATURE$ and skeletal abnormalities, and was consequently diagnosed as LEOPARD syndrome.	false
+3243035d4497e12e037e644106311bd462c9b95f	A 53-year-old Japanese man presented with generalized lentigines, arrhythmia, gonadal hypoplasia, endocrine abnormality, @PHENOTYPICFEATURE$ and skeletal abnormalities, and was consequently diagnosed as @DISEASE$.	false
+f3a9c1adc571d60376e8f8d100ecc7a9a4cc327c	A 53-year-old Japanese man presented with generalized lentigines, arrhythmia, gonadal hypoplasia, endocrine abnormality, mental retardation and @PHENOTYPICFEATURE$, and was consequently diagnosed as @DISEASE$.	false
+49105ab96b33b90159222c0174c0424da1d84d93	We report 11 patients with RASopathies (Costello, Noonan, and @DISEASE$ [formerly LEOPARD syndrome]) and nonreentrant atrial tachycardias (MAT and ectopic atrial tachycardia) demonstrating overlap in @PHENOTYPICFEATURE$ phenotype.	has_symptom
+a70e9159548c971c73fb0197ca699b5e8272eb18	We report 11 patients with RASopathies (Costello, Noonan, and Noonan syndrome with multiple lentigines [formerly @DISEASE$]) and nonreentrant atrial tachycardias (MAT and ectopic atrial tachycardia) demonstrating overlap in @PHENOTYPICFEATURE$ phenotype.	has_symptom
+94fd06d0f2716bdba16a785ebf69cab8de1a387f	In cerebral adrenoleukodystrophy (cALD), an accumulation of very long chain fatty acids stems from a defect of the peroxisomal @DISEASE$ protein (ALDP) and results in the loss of myelin/oligodendrocytes, induction of inflammatory disease and @PHENOTYPICFEATURE$.	has_symptom
+778c005fc40a9bcc08ea6879888511ee76c193bf	@DISEASE$ is a severe form of GM2 gangliosidosis that is caused by the deficiency of both hexosaminidase A and B. Startle reaction, hypotonia, psychomotor retardation, and @PHENOTYPICFEATURE$ are the main clinical features.	has_symptom
+1c96ba9bf5ff294b6fdd8b171ac3c5a72ea34b22	The combination of @DISEASE$ with @PHENOTYPICFEATURE$ and cervicothoracic dysplasia is known as MURCS association (Mullerian aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia).	has_symptom
+a578a82e0933a52de951f7408815dda84129e8d1	The combination of @DISEASE$ with renal anomalies and cervicothoracic dysplasia is known as MURCS association (Mullerian aplasia, @PHENOTYPICFEATURE$, and Cervicothoracic Somite dysplasia).	has_symptom
+d3c9d67a7df96d7372208478c52a9e7f89913495	Laparoscopic modification of Vecchietti's technique for creating a neovagina was carried out in four women with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+d3a819da5e021d6d246066e7e647273c68326903	Women with @DISEASE$ have congenital absence of the uterus and upper two-thirds of the vagina, which is frequently accompanied by skeletal and @PHENOTYPICFEATURE$.	has_symptom
+b081966eb9f121fc8650e63ddd627cdd13d6483b	The Mayer-@DISEASE$ is a spectrum of mullerian anomalies, including vaginal agenesis with or without @PHENOTYPICFEATURE$, in genotypic and phenotypic female subjects with normal endocrine status.	has_symptom
+70da68a2f03ba2f5c1d3a7c138ca33ffce7fbc5f	Pelvic pain in patients with complex mullerian anomalies including @DISEASE$ (MRKH), obstructed hemi-vagina ipsilateral @PHENOTYPICFEATURE$ (OHVIRA), and complex cloaca.	has_symptom
+74968ea7a857706f2b150c2d2eb96ca74b7c9540	The purpose of this study was to discriminate typical (type A) from atypical (type B) Mayer-Rokitansky-K?ster-Hauser (@DISEASE$) syndrome (congenital absence of vagina and uterus) and determine their association with @PHENOTYPICFEATURE$ and ovarian disease.	has_symptom
+3f3d824fd47a78c6b652005bb504401f882d5365	We describe 8 cases that exemplify nearly all variants in the group of m?llerian and @PHENOTYPICFEATURE$ that we identify as the Mayer-@DISEASE$.	has_symptom
+aa7ab64777b4b1d7d991b7e40c200947960301e6	It has also been described associated to systemic sclerosis, sarcoidosis, systemic @PHENOTYPICFEATURE$, inflammatory bowel disease, and @DISEASE$, and also drugs have been implicated.	has_symptom
+0dbc5b7bff38adafa0eef76d500972bba77d01ee	Cutaneous granulomatous vasculitis is an uncommon histopathologic finding that has been associated with @DISEASE$, systemic @PHENOTYPICFEATURE$, autoimmune inflammatory diseases, and infection.	has_symptom
+c1d6d2a20bb6dcdc5644dc196630cb4ef005a04c	@DISEASE$ is a common disorder that leads to @PHENOTYPICFEATURE$.	has_symptom
+b65abbab5d4d150b42699c58b0b53a41ac96ce40	@DISEASE$ is the most common cause of bilateral gradually progressive @PHENOTYPICFEATURE$ with normal tympanic membrane and Eustachian tube.	has_symptom
+cc880c8a509cb323e8bdc515fee805058ad10ad7	@DISEASE$ is responsible for @PHENOTYPICFEATURE$ and symptoms such as dizziness and vertigo.	has_symptom
+a89c53436b2bc70f294a1e1db0d962dac4c976f9	@DISEASE$ is a disorder that impairs middle ear function, leading to @PHENOTYPICFEATURE$.	has_symptom
+b6e82d316800286fb87cc5237996f16377994d50	@DISEASE$ is a common form of @PHENOTYPICFEATURE$ with a prevalence of 0.3-0.4% in white adults.	has_symptom
+14ed973383a21974c4f4e109110e67982cdb6feb	@DISEASE$ is a progressive disease with a remodeling process causing ossicular malformation and @PHENOTYPICFEATURE$.	has_symptom
+98b850de6ad7b4f0d37325929288779b2e7a9f82	@DISEASE$ is a disorder presenting most commonly with unilateral @PHENOTYPICFEATURE$.	has_symptom
+535a7fd60aed3535bbadfedbe01dec335dbc64e9	In children, @PHENOTYPICFEATURE$ with normal tympanic membrane is mostly caused by minor aplasia rather than @DISEASE$.	has_symptom
+49efc0d30f928e0675d60b4e55d37a1ff98a6689	@DISEASE$ often occurs as a unilateral mixed or @PHENOTYPICFEATURE$.	has_symptom
+10cf00cdc717f8644df7c537ac58a491dd8f278c	@DISEASE$ in childhood and adolescence or juvenile otosclerosis is a rare disorder resulting in @PHENOTYPICFEATURE$.	has_symptom
+f4d71029fd0afb650c4d739dc7c70825458a77ab	Nager acrofacial dysostosis is a variant of @DISEASE$ with severe micrognathia, @PHENOTYPICFEATURE$, and radial limb defects.	has_symptom
+3e273077091aa7a502c2a50bcac5890919c8d51e	Nager acrofacial dysostosis is a variant of @DISEASE$ with severe @PHENOTYPICFEATURE$, malar hypoplasia, and radial limb defects.	false
+1166d813087348cdc4cb98ad13f7f69b29bab8ac	Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe @PHENOTYPICFEATURE$, @DISEASE$, and radial limb defects.	false
+3c2c12de3b81eba7e76340d7added835d17325d1	Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe @PHENOTYPICFEATURE$, malar hypoplasia, and @DISEASE$ limb defects.	false
+b7f3064078ac48ab514b99d83810d006f8593373	@DISEASE$ (TCS) is an autosomal dominant disorder of craniofacial development with features including @PHENOTYPICFEATURE$, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate.	has_symptom
+f1c2779e4367f05c63406fc6a9c46e422e1cf46a	Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including @DISEASE$, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, @PHENOTYPICFEATURE$, and cleft palate.	false
+381fde77865d960b8d5b607155303311b9763d8f	Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including @DISEASE$, @PHENOTYPICFEATURE$, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate.	false
+eb2a04dd9b3fce1282b2e51c2d5a380f1d86ce69	Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including @DISEASE$, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and @PHENOTYPICFEATURE$.	false
+c6d70100908451bb598239caa4a21e49beab8b9a	@DISEASE$ (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, @PHENOTYPICFEATURE$, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate.	false
+73ce3f8d5aa6d8f257239a91f492a0b0adb8fa97	@DISEASE$ (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, @PHENOTYPICFEATURE$, and cleft palate.	false
+00a974bd5930d0bad8cec572baa3e601ff465983	@DISEASE$ (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and @PHENOTYPICFEATURE$.	false
+95bd8d524e5ad910d6ba36684378fd502a61b626	The use of a temporal osteoperiosteal flap for the reconstruction of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+2179fb8e62a7dcc6e8b2c3ed583105886e3b2bcf	@DISEASE$ (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by @PHENOTYPICFEATURE$, orofacial cleft, and micrognathia.	has_symptom
+03a1faa987adeb6d9e207001ebb68bc25363a572	@DISEASE$ (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and @PHENOTYPICFEATURE$.	false
+43be3e26d2a2f163cba75fbc75407d4cb08995f6	Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by @DISEASE$, orofacial cleft, and @PHENOTYPICFEATURE$.	false
+98b78ca485ede65be4a95ec5acc3fd6db613b9fa	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus @DISEASE$ (severe micrognathia and @PHENOTYPICFEATURE$) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	has_symptom
+ee7916820778ad6cd55c06920be37b6218b3d532	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and @PHENOTYPICFEATURE$) and Miller syndrome with postaxial malformations plus @DISEASE$.	has_symptom
+5d3e2b0f5e8bce3d96a1a08db731beb6e02eaa33	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus @DISEASE$ (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+1cae1f151acfa7aca00dd3cda1fae05e1f35b7f5	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager @DISEASE$ with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+bb21b5a3638572487bd6f935c0414e7f7ddf14da	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and Miller syndrome with postaxial malformations plus @DISEASE$.	false
+a50b16880c5b868f8de7acde904e95dacfc6c2b3	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and malar hypoplasia) and @DISEASE$ with postaxial malformations plus mandibulofacial dysostosis.	false
+9f689856fb461c91a351c025787795050dd3f331	Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe @PHENOTYPICFEATURE$ and @DISEASE$) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.	false
+1e82f18b39555f6e7c56938e7fd4ea3104b6fe2e	@DISEASE$ (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of @PHENOTYPICFEATURE$, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness.	has_symptom
+ec06c4fa949c00b49abb01d8a2f983c27918a2c9	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of @DISEASE$, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and @PHENOTYPICFEATURE$.	false
+4ae1ee291876acfaca698a9568a21b5d41a860b6	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric @DISEASE$ anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, @PHENOTYPICFEATURE$, cleft palate and deafness.	false
+4b7ffba9672639ba787b8d6274e6b98ad58774f6	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of @DISEASE$, coloboma of the lower eyelid, dysplastic ears, @PHENOTYPICFEATURE$, cleft palate and deafness.	false
+845cf3a9cba9c03db895008c578bd384f977333d	@DISEASE$ (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and @PHENOTYPICFEATURE$.	false
+31e539c9ee48dff27d0520e35f480f560969acce	@DISEASE$ (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, @PHENOTYPICFEATURE$ and deafness.	false
+1b8af12796987ebac7a2212b46cae293256dae95	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric @DISEASE$ anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, @PHENOTYPICFEATURE$ and deafness.	false
+4e281ad12315613fb0e26f79e11c2ceed708c622	@DISEASE$ (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, @PHENOTYPICFEATURE$, cleft palate and deafness.	false
+1e6a49b923b33ac771151d1eb0b34137e3a7d06e	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of @DISEASE$, coloboma of the lower eyelid, dysplastic ears, micrognathia, @PHENOTYPICFEATURE$ and deafness.	false
+2b40c5649bfc87680587c63d1def362e62657c2a	Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric @DISEASE$ anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and @PHENOTYPICFEATURE$.	false
+e866e951ad609518e16eafd373be673945300e64	@DISEASE$ (TCS) is a facial dysostosis, the hallmark being bilateral @PHENOTYPICFEATURE$.	has_symptom
+2a186db839a7f7d9333908f0d7c8539126979e12	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	has_symptom
+c2de4f67a81d48753a65242ebbbabfc30c96ae19	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, @DISEASE$, and lactic acidemia.	false
+c40aedd917677d620031a461fa671c15df0ca918	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+13e0e07f7c452f9c5729ecc6233b74af501cf9e8	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting @DISEASE$, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+8506ce6952e2ea82856094f4fb3cc884ffb534ea	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting @DISEASE$, growth retardation, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+ce69e24eeb600ad6138008981d1f1d368f9c26b6	Glycogen storage disease type-Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, hyperlipidemia, @DISEASE$, and lactic acidemia.	false
+f92b9e3b50525742218af32a560d16cb3acbac62	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, growth retardation, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+a1ed5b885cdf71baf78ef8e800e8b9a229367d92	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, @PHENOTYPICFEATURE$, hyperlipidemia, impaired platelet function plus neutropenia.	has_symptom
+a8b98044776706e261b0de347b3f7e06b3981db6	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, @PHENOTYPICFEATURE$, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus @DISEASE$.	false
+1900f7cd0893dd6618ccd892b669b9288a20ab4e	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, @PHENOTYPICFEATURE$, hyperlactacidemia, hyperuricemia, @DISEASE$, impaired platelet function plus neutropenia.	false
+99c72332551c6715f8acdb9d6ee4c189fde815c6	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia.	false
+fc0fe7fc4ce852578609a45892a9ee9ea993d735	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, @DISEASE$, impaired platelet function plus neutropenia.	false
+79198b1dbadfcdc945e21b7024e07c45fee7f01e	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, @DISEASE$, hyperlipidemia, impaired platelet function plus neutropenia.	false
+43ca2d7b66568390ad0788f793ab7c1320251fc1	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, growth retardation, bleeding tendency, @PHENOTYPICFEATURE$, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia.	false
+3464a613b44b333325ddc8e3f44e985a915d7932	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus @DISEASE$.	false
+14c4481855713f668dc87dabe87e352ff61237ca	Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, @PHENOTYPICFEATURE$, hyperlactacidemia, @DISEASE$, hyperlipidemia, impaired platelet function plus neutropenia.	false
+f2b10832a233780cc420c34ffdfa50ead2492f81	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	has_symptom
+a6a49ca97b351acdcfee29eb74343763bc0cb5bc	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+8ecd0a3b26775abd135b1385033e1478234526fe	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+34122a9f406c1260a2b4837dd3368cbbbd668d06	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+35b2b440396926dd0c4cfd91726dbb19da58548c	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+745f7b40cb36ad73dd60b5000dc27cbd1bc68e26	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @DISEASE$, and lactic acidemia.	false
+19a2856aa5c1ec296c055988f80c6fe540f07dc4	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, @DISEASE$, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+26eaca481f92b7716a3a1f6a3cef7980ba623922	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	false
+7ca14caa676cd75da09fcdb267513fcf6fcd8985	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+3ba0aba9724bf3556f8735ee7fef22679b171138	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, @DISEASE$, and lactic acidemia.	false
+4018814a08cb7ad88c1f5e2a5492d2ce996cde13	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+4d47f6cce18f01db4a84668f00162b9082f70744	@DISEASE$ (GSD-1a), characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, hyperlipidemia, @PHENOTYPICFEATURE$, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	has_symptom
+558d79200458615d29b0383f3f57a532c89f3f8f	@DISEASE$ (GSD-1a), characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, kidney enlargement, hyperlipidemia, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+af834a790e270e1f50b0896601b51c3a00e22fa9	Glycogen storage disease type 1a (GSD-1a), characterized by growth retardation, @DISEASE$, hepatomegaly, kidney enlargement, @PHENOTYPICFEATURE$, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+2343b47acb7072471c3f455745ba858ba2ae1a54	Glycogen storage disease type 1a (GSD-1a), characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, kidney enlargement, hyperlipidemia, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+9dca2e348f22ca18043d3609501bef709630201d	Glycogen storage disease type 1a (GSD-1a), characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, @PHENOTYPICFEATURE$, @DISEASE$, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+a6d8359bdd0df911d4397e9b74737a5cbd90e05d	@DISEASE$ (GSD-1a), characterized by growth retardation, hypoglycemia, hepatomegaly, kidney enlargement, @PHENOTYPICFEATURE$, hyperuricemia, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+88c00c7321eb9341a3c052dc2d6bc647c226756c	Glycogen storage disease type 1a (GSD-1a), characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, kidney enlargement, hyperlipidemia, @DISEASE$, and renal dysfunction, is caused by deficiencies in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+99c2579e1bce572d7c82a08c3ba6fab2bdb82c48	@DISEASE$ (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, hyperlipidemia, and @PHENOTYPICFEATURE$, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	has_symptom
+bd41d17d89c58500c044e49073398692b5381233	Glycogen storage disease type 1a (GSD-1a), characterized by @DISEASE$, liver and kidney enlargement, growth retardation, @PHENOTYPICFEATURE$, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+e838faaeaa6928f507788d3703eaa5bae1229ff4	Glycogen storage disease type 1a (GSD-1a), characterized by @DISEASE$, liver and kidney enlargement, @PHENOTYPICFEATURE$, hyperlipidemia, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+8e83033a12ddb100d0d17f9ea072e9a5b0a11253	@DISEASE$ (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, @PHENOTYPICFEATURE$, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+d1bc94e52d71eb84937a77e792fca4d62b1ef7ab	Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, @PHENOTYPICFEATURE$, hyperlipidemia, and @DISEASE$, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+344cfa48f35e40842279a5b162c8ff291cbe50e9	Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, growth retardation, @PHENOTYPICFEATURE$, and @DISEASE$, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+5c0e7d594a6da1689679f5827e976db2856560cf	@DISEASE$ (GSD-1a), characterized by hypoglycemia, liver and kidney enlargement, @PHENOTYPICFEATURE$, hyperlipidemia, and hyperuricemia, is caused by a deficiency in glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis.	false
+eea747bf586f23077d480d0ef7977d8998a8ebbb	We describe a 46-year-old woman presenting with a @PHENOTYPICFEATURE$ secondary to hypertensive encephalopathy as the initial manifestation of @DISEASE$ renal crisis.	has_symptom
+8dd5c20aa431003dad389b9423d1810e4a22b4f2	Electrophysiologic and histopathologic correlation has been carried out in a patient with @DISEASE$ heart disease, affected by syncopal @PHENOTYPICFEATURE$, who died of recorded ventricular fibrillation.	has_symptom
+6246134341708811d3643122a4cd22a52d11b12e	Localized craniofacial @DISEASE$ is associated with @PHENOTYPICFEATURE$, headaches, and, less commonly, focal deficits and cognitive decline.	has_symptom
+df71c429bf9431b3d75f74477952a7ba8755a22a	The main factors which contributed to poor prognosis were superior vena cava (SVC) syndrome, massive pleural effusion, tracheal stenosis due to lymph node swelling, pericardial effusion and pulmonary fibrosis (causing dyspnea in combination), brain metastasis resulting in neurological disturbance, cachexia, Eaton-Lambert syndrome causing muscle weakness, retroperitoneal lymph node metastasis causing @PHENOTYPICFEATURE$, peritoneal effusion due to abdominal lymph node swelling, vertebral metastasis causing paraplegia, and dermatomyositis/@DISEASE$ (DM/PM) causing muscle weakness.	has_symptom
+b2b5fb4a53ecdb71b2033248e9b4ec086b44a99a	A 67-year-old woman with @DISEASE$ developed mild @PHENOTYPICFEATURE$ and abdominal distension during treatment with steroid and azathioprine.	has_symptom
+122eb8a2d4f24e1523a2ea9c51d73ea1780c983f	Herein, we report of two cousins with @DISEASE$ and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and @PHENOTYPICFEATURE$, findings not been previously published in children with HPRT deficiency.	has_symptom
+9067f37a66e127d5ffcaa6fc660624a87ec95f93	Orotidine accumulation in human erythrocytes during allopurinol therapy: association with high urinary oxypurinol-7-riboside concentrations in @PHENOTYPICFEATURE$ and in the @DISEASE$.	has_symptom
+4615d5acb2db631f0378477c461b799bdbea43a6	2. The erythrocyte orotidine concentrations were much higher in patients with @PHENOTYPICFEATURE$ or with the @DISEASE$.	has_symptom
+16f86941669278af0807e3a79d49f97ce57ece7a	Partial @DISEASE$ due to a newly recognized mutation presenting with @PHENOTYPICFEATURE$ in a one-year-old boy.	has_symptom
+3acfcd6e7a59c5fe3ef6c87f8d0cfb7aa991b7ab	@DISEASE$ associated with a severe rhythmic @PHENOTYPICFEATURE$ involving neck flexions.	has_symptom
+e28fd55419569d8a957d591b81a343d743c41a26	Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive @DISEASE$ (SPG20), which has additional features of short stature, @PHENOTYPICFEATURE$ and distal amyotrophy.	has_symptom
+5f17da0e83e2c11f2841880b93696bd82aa3e1ca	Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of @PHENOTYPICFEATURE$, @DISEASE$ and distal amyotrophy.	false
+369a8074a874144aeb4084fb18f0b18fead1eef3	Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive @DISEASE$ (SPG20), which has additional features of @PHENOTYPICFEATURE$, cognitive deficits and distal amyotrophy.	false
+c06246f40d79a79ace1e2b961d70eece31ccfbc1	NTE-MND resembles @DISEASE$, except that short stature, @PHENOTYPICFEATURE$, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.	has_symptom
+b26312ae665fde76d878e485f5960ba44e1f6f24	NTE-MND resembles Troyer syndrome, except that short stature, @PHENOTYPICFEATURE$, and dysmorphic features, which often accompany @DISEASE$, are not features of NTE-MND.	has_symptom
+054bce8480ad0a3244d9ec149f9930bd971b804d	NTE-MND resembles Troyer syndrome, except that @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.	false
+d4e370ef9730745d5b83109da7d21254b4a2ef49	NTE-MND resembles Troyer syndrome, except that @PHENOTYPICFEATURE$, cognitive impairment, and dysmorphic features, which often accompany @DISEASE$, are not features of NTE-MND.	false
+5f639c65d82f6fd89bf27a5c5ced6cd16338d0b1	NTE-MND resembles @DISEASE$, except that @PHENOTYPICFEATURE$, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND.	false
+fbe558b250b2bee2c01c859ab5edb965142d18b6	@DISEASE$ should be considered with diagnoses of hypocalcemic @PHENOTYPICFEATURE$.	has_symptom
+f3bc7618ab92743fead0934ae7665bb1016f29a2	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy should be considered with diagnoses of @PHENOTYPICFEATURE$ @DISEASE$.	false
+0ffe83d8b690bc7fb037515b5509c79273ade35f	@DISEASE$ should be considered with diagnoses of @PHENOTYPICFEATURE$ cataract.	false
+e7438607053c2e3ac5635f17972541c9d8293637	Rapid onset childhood @PHENOTYPICFEATURE$ leading to the diagnosis of @DISEASE$.	has_symptom
+0588dd306ccadd8e353bd3362bf779d15cc378a7	To report a case of bilateral @PHENOTYPICFEATURE$ in a child that led to diagnosis of @DISEASE$.	has_symptom
+58580d613a1c1fd87bbdf271a671cbd6fa092a35	The clinical characteristics of our 6 families with 16q-ADCCA were slowly progressive pure cerebellar syndrome with late age of onset (average +/- SD years: 55.9 +/- 10.0), which contrasts with more earlier onset, prominent @PHENOTYPICFEATURE$ and pyramidal tract signs seen in @DISEASE$ (SCA4) linked to the same chromosomal region.	has_symptom
+ec67209f3415e6ebd48f25db37c86542261cb05a	Jaundice, liver enlargement, @PHENOTYPICFEATURE$ or signs of secondary localizations are manifestations that lead to the discovery of hepatic @DISEASE$.	has_symptom
+495f552559444e776e55e36e29b03ec5da48b213	Specifically, neonatal @DISEASE$ is characterized by intrauterine polyhydramnios, premature delivery, and life-threatening episodes of @PHENOTYPICFEATURE$ and dehydration.	has_symptom
+70de36e1e43b6e5e6d05b80bf00e8b0c5211c875	@DISEASE$ (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and @PHENOTYPICFEATURE$.	has_symptom
+e8263404bbe41ece5382db9dc287b89618b00646	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy and elevated level of protein in CSF.	has_symptom
+279868c2732dea4f59791b062f64c0a8b51b162f	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included @DISEASE$, microcephaly, @PHENOTYPICFEATURE$ and elevated level of protein in CSF.	false
+3bc496b68e92199fbb7a859c07906071e938d2bc	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included failure to thrive, @PHENOTYPICFEATURE$, peripheral neuropathy and elevated level of protein in CSF.	false
+a972ba81f53e8308f3ee82c10728c4db45bb4595	We report a clinical observation of an infant aged 5 months with @DISEASE$ whose symptomatology included failure to thrive, microcephaly, @PHENOTYPICFEATURE$ and elevated level of protein in CSF.	false
+a7d60ca57c3444c9a5ab711f6d8da0d44ae8215b	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included @DISEASE$, @PHENOTYPICFEATURE$, peripheral neuropathy and elevated level of protein in CSF.	false
+484c5ada8319e7fed49873998f0355d676855be7	@PHENOTYPICFEATURE$ and hematologic phenotype in patients with transfusion-dependent @DISEASE$.	has_symptom
+8df867d650fa1bfbeaa149253767e2804aab2c0c	@DISEASE$: a microvascular link between parenchymal and vascular @PHENOTYPICFEATURE$?	has_symptom
+2f863758ae6b288fc24c519682017391b4acd101	Dementia exclusively with @DISEASE$ is a form of vascular @PHENOTYPICFEATURE$, while it is classified to AD when significant Alzheimer's pathology coexists.	has_symptom
+6d96a54d708bf456e6f386946e13159ac2d2f423	This includes in vitro models of the neurovascular unit, models of chronic cerebral hypoperfusion, animals with NOTCH3 mutations as a model of small vessel disease, large animals with @DISEASE$ (CAA), and animal models of mixed @PHENOTYPICFEATURE$.	has_symptom
+15e7b3a8e212797a9e902e1d7c2cea3b8d9d0260	The high probability group included: amnestic Mild Cognitive Impairment (MCI), amnestic and other domains MCI, Dementia of Alzheimer's Type (DAT), Posterior Cortical Atrophy (PCA), logopenic Primary Progressive Aphasia (PPA), @DISEASE$ and mixed @PHENOTYPICFEATURE$.	has_symptom
+47aa25732619ad9e26c07e70ad08d3acd80d3000	Preventive measures, such as increased physical activity, can be introduced to minimize possible alterations in body weight, and a long-term follow-up study is required to elucidate whether GnRH agonist treatment in Korean girls with @DISEASE$ affects adult @PHENOTYPICFEATURE$.	has_symptom
+4d41ca7387ac36914206d99804c7810c3bdd5faf	There is a high prevalence of @PHENOTYPICFEATURE$/overweight in girls with @DISEASE$ and EP at diagnosis.	has_symptom
+5dfeefe4190ae1774357a7326754272423442448	In the group of girls with overweight or @PHENOTYPICFEATURE$, the resistin level was lower in girls with @DISEASE$ than in prepubertal and pubertal girls.	has_symptom
+65513abeff33656a0ee612378586fc42d5606ed1	BMI z-score, @PHENOTYPICFEATURE$/overweight rates, fasting glucose and lipids did not change significantly in girls with @DISEASE$ or EP during 3?yrs of follow up, regardless of treatment.	has_symptom
+da9951684dbf6b997a88e70f4a56dd479d8b3405	@DISEASE$ patients had a relatively high body mass index (BMI) at the time of CPP diagnosis, but BMI standard deviation score maintenance during GnRHa treatment seemed to prevent the aggravation of @PHENOTYPICFEATURE$ in many cases.	has_symptom
+63c7e1fc9ab6d0dc7939f4ff480e070f73f54f50	To determine BMI, @PHENOTYPICFEATURE$/overweight rates, glucose and lipids at baseline, during GnRHa treatment and shortly after therapy discontinuation in female children with @DISEASE$ and EP. 2. To compare this response to that seen in a similar group of untreated patients.	has_symptom
+fbda065c38c1d4c840c38ec2b9696bc4eb41eb35	A high prevalence of overweight and @PHENOTYPICFEATURE$ was observed in patients with @DISEASE$ with or without MKRN3 mutations (47.3% and 50%, respectively), followed by a significant reduction after GnRHa treatment.	has_symptom
+d8da90af25670e7e55cde52e4342eef09bd4853c	Three hundred and thirty-three girls with @DISEASE$ who underwent the GnRH agonist test between 2012 and 2014 were classified into three groups: normal weight (n=123), overweight (n=108), and @PHENOTYPICFEATURE$ (n=102), according to body mass index (BMI).	has_symptom
+9f38b6c7f705979c082e968063bf92eec4b2460f	Patients with central precocious puberty (@DISEASE$) may have increased serum leptin levels; however, it is not well known whether this increase differs between patients with and without @PHENOTYPICFEATURE$.	has_symptom
+f270c980c61dded3de6f57dad31b311e5e1e4fbb	2. The rate of overweight and @PHENOTYPICFEATURE$ among children with @DISEASE$ is higher than in the general population.	has_symptom
+294883a6d74e7c6d18b9412f44dc51026c7a7c10	However, the clinical profile was different: sudden death at 20 years old without any medical history of neurological disorders, nor with any diseases typically caused by KCND3 pathogenic variants such as Brugada syndrome, @DISEASE$ or @PHENOTYPICFEATURE$ accompanied by epilepsy.	has_symptom
+e02ac7a9ba48087a20f3a52ac2e785006b87dd1e	Patients with @DISEASE$ or Wilson disease for example may develop severe hepatic pathology including fibrosis, @PHENOTYPICFEATURE$ or hepatocellular carcinoma.	has_symptom
+cbcd7df28c57ed81317534bcba6645a26a074812	@DISEASE$ is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, @PHENOTYPICFEATURE$, microcephaly, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	has_symptom
+9a7f3c2f3c54e0226adeb1758daea814aa6894fd	Cohen syndrome is an autosomal recessive disease characterized by myopia, @DISEASE$, neutropenia, short stature, @PHENOTYPICFEATURE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+6f3a2e606ec0936a1816b721f52fe31bf1db544c	Cohen syndrome is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, @DISEASE$, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+dec22ed378f8801be421f6cd441fcb94990e1219	Cohen syndrome is an @DISEASE$ characterized by myopia, retinal dystrophy, neutropenia, short stature, @PHENOTYPICFEATURE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+70b74947b9db41ed4e778a15a2b161f83c865249	Cohen syndrome is an @DISEASE$ characterized by myopia, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+46d40159e010c93bef9c78336031cb2e2a29d312	@DISEASE$ is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+475f104f2af1dcaf5ef0da19ebd1e059ea3bf636	Cohen syndrome is an autosomal recessive disease characterized by myopia, @DISEASE$, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+b8c7c114d573c0b2434a17fc81cfe0ea027adc42	Cohen syndrome is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, @DISEASE$, @PHENOTYPICFEATURE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+76f4ed3c065ae561b77e9ee3c673037f1a615bfc	@DISEASE$ is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, @PHENOTYPICFEATURE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+ed2371625a90a8e6164667cc46bd9597dc42dc52	Cohen syndrome is an autosomal recessive disease characterized by @DISEASE$, retinal dystrophy, neutropenia, short stature, @PHENOTYPICFEATURE$, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance.	false
+f83f389583d0cafb3a7bd9e9b515e8faaa2e8cd6	Cohen syndrome is an autosomal recessive disease characterized by @DISEASE$, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, @PHENOTYPICFEATURE$ (ID), and a distinct facial appearance.	false
+f18ecc39363521cf9a02272e5fa0ac347a1b1473	@DISEASE$, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, @PHENOTYPICFEATURE$, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	has_symptom
+775314c5a15e54cfd2dc7f3d4b43d8a7c6e8915d	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, @PHENOTYPICFEATURE$, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, @DISEASE$, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+9bd53dd5bbf53b6d267ea45394f86b57f03e742a	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, @PHENOTYPICFEATURE$, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal @DISEASE$.	false
+3126b0977b0a4f5eb9d6eaefcb68151941d6e0e4	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or @DISEASE$, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+bdeb1661e108195796586957b1e1af5e1e9fe15c	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, @DISEASE$, kyphosis and/or scoliosis, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+508f12d491002b9b94985d739de65c9fe6de18a1	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal @DISEASE$.	false
+1a63b9bd645f72a018c95a580cab9e51d6bd8898	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, @PHENOTYPICFEATURE$, growth delay, severe @DISEASE$, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+8d1a1c1ec6b67308f2419395a1a5a3342e4a78e7	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of @PHENOTYPICFEATURE$, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, @DISEASE$ anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+e0095b73bd1865645840e538aed4467c634f4c2c	@DISEASE$, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, @PHENOTYPICFEATURE$, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+7586f94c1d8bef9a9b28132794efd3f7a70a68e7	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, @PHENOTYPICFEATURE$, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or @DISEASE$, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+4ad99bca27508278fb31bd2161047258e9e88f4c	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of @PHENOTYPICFEATURE$, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or @DISEASE$, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+ec4549b2217b2becc61e481b895e1639e0d79bb0	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe @DISEASE$, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+fb1861e450a0575a4989c8ec594c377311eff278	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of @PHENOTYPICFEATURE$, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal @DISEASE$.	false
+c6d64e99f40d99683d6f25ca2565f88936cf96ce	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of @PHENOTYPICFEATURE$, microcephaly, growth delay, severe @DISEASE$, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+8e6ee671fe78ce2ee604ee011721219050f0768a	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, @DISEASE$ anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+6f8ebfa0e1b880af7985fa54f4d3d62ad43143bd	@DISEASE$, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+0cd0d5eb0982c6c109a1de10ad6e205499b5b259	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, @PHENOTYPICFEATURE$, growth delay, severe myopia, progressive chorioretinal dystrophy, @DISEASE$ anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+f0232a8438cac1b017ffef283541088fdaa2eb4f	Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of @PHENOTYPICFEATURE$, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, @DISEASE$, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+a70645059ae4a6f23676ead0edd1983083aba7dc	@DISEASE$, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of @PHENOTYPICFEATURE$, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+87cf8a595593fa5f72f0efdb2c417b39b3c59599	Because of absence of a distinctive facial appearance, the degree of mental retardation, and @PHENOTYPICFEATURE$, the initially considered clinical diagnosis of @DISEASE$ was withdrawn and a novel genetic entity was assumed.	has_symptom
+fe953d266ca7b7d5c29ba511d59c58d53e36ac5f	Because of absence of a distinctive facial appearance, the degree of @PHENOTYPICFEATURE$, and short stature, the initially considered clinical diagnosis of @DISEASE$ was withdrawn and a novel genetic entity was assumed.	false
+2a4e55da78667d8e19c353229d97011f1b4c7d1b	Because of absence of a distinctive facial appearance, the degree of @PHENOTYPICFEATURE$, and @DISEASE$, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed.	false
+d0d7035a97f94b6c41ad057e19e5fc2c71551f61	Duplication or insertion in 15q11-13 associated with mental retardation-@PHENOTYPICFEATURE$ and obesity-Prader-Willi or @DISEASE$?	has_symptom
+0ce89407021619f314f3223178a79a4508342be3	Duplication or insertion in 15q11-13 associated with @PHENOTYPICFEATURE$-@DISEASE$ and obesity-Prader-Willi or Cohen syndrome?	false
+1506aedcd03b12185ffa055fa6bf81cdb1d0a116	Duplication or insertion in 15q11-13 associated with @PHENOTYPICFEATURE$-short stature and obesity-Prader-Willi or @DISEASE$?	false
+57106e3cb88fe6549b0c012aa79c825929d2a763	Duplication or insertion in 15q11-13 associated with mental retardation-@DISEASE$ and @PHENOTYPICFEATURE$-Prader-Willi or Cohen syndrome?	false
+a5c329ea7605b6661fc3e09c009be9c4c5beb7a5	Duplication or insertion in 15q11-13 associated with mental retardation-short stature and @PHENOTYPICFEATURE$-Prader-Willi or @DISEASE$?	false
+60feb2db1cbffd8ea53773136d6bcf9a9f6f6ea4	Homozygosity mapping in a family with microcephaly, mental retardation, and @PHENOTYPICFEATURE$ to a @DISEASE$ region on 8q21.3-8q22.1:	has_symptom
+63a2510a9cc159d856036c8fc024c92fbf5379bf	Homozygosity mapping in a family with @PHENOTYPICFEATURE$, mental retardation, and short stature to a @DISEASE$ region on 8q21.3-8q22.1:	false
+2358a50c9dcd2e62232e1d67e1f96a58b9991be2	Homozygosity mapping in a family with microcephaly, @PHENOTYPICFEATURE$, and short stature to a @DISEASE$ region on 8q21.3-8q22.1:	false
+583ef8e090baa1ed4950f655fa1036372aec3618	Homozygosity mapping in a family with microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$ to a Cohen syndrome region on 8q21.3-8q22.1:	false
+8b020d530a0810addfcd3e93f5112bb10e52bfbe	Homozygosity mapping in a family with @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$ to a Cohen syndrome region on 8q21.3-8q22.1:	false
+561e5499edebbce222570034c61d286811e7150e	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, obesity, @PHENOTYPICFEATURE$ as well as oral, ocular, and limb anomalies.	has_symptom
+47620834637063b80faebb9c9c4cb1b080224bc6	The @DISEASE$ is an autosomal recessive syndrome that causes @PHENOTYPICFEATURE$, obesity, short stature as well as oral, ocular, and limb anomalies.	false
+71cd269fe5525955b9841d613d458928d7882336	The Cohen syndrome is an autosomal recessive @DISEASE$ that causes mental retardation, @PHENOTYPICFEATURE$, short stature as well as oral, ocular, and limb anomalies.	false
+1555d2557a5196e776ec473318c8f6d67b8ad8ea	The Cohen syndrome is an autosomal recessive syndrome that causes @PHENOTYPICFEATURE$, obesity, @DISEASE$ as well as oral, ocular, and limb anomalies.	false
+4bf5fab1a92fbc79c6b555b5972f7e8f6a19b2e6	The Cohen syndrome is an autosomal recessive @DISEASE$ that causes mental retardation, obesity, short stature as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+d8c8e94d092e36318778b530c3c08d8183d9bcd2	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, @PHENOTYPICFEATURE$, short stature as well as oral, ocular, and limb anomalies.	false
+9908f9e7a243486163ea2045a599850f39c0b542	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+94b42713b33ac43f9a486d9442666f48941fffd8	The Cohen syndrome is an autosomal recessive @DISEASE$ that causes @PHENOTYPICFEATURE$, obesity, short stature as well as oral, ocular, and limb anomalies.	false
+ea78156fb477ed82ce4238dc6fe93a46149067d4	The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, obesity, @DISEASE$ as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+da6fb207d8405b77376ee9973eae357e6814af4a	The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, @PHENOTYPICFEATURE$, @DISEASE$ as well as oral, ocular, and limb anomalies.	false
+9a8cfd615402489fe610f772a63b8638faa42f46	"A new association of mental retardation, @PHENOTYPICFEATURE$, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": @DISEASE$ with thrombocytopenia.	has_symptom
+9cc76d3118f3fb864f306f12f7aeb92bbc9c8e45	"A new association of @PHENOTYPICFEATURE$, @DISEASE$, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia.	false
+745de403c3588b96c4459bdb82a626bcbdcb6f08	"A new association of @PHENOTYPICFEATURE$, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": @DISEASE$ with thrombocytopenia.	false
+c2153c0e0c64baba390aaeef8e877eed069886ca	"A new association of @PHENOTYPICFEATURE$, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with @DISEASE$.	false
+30859c7030482060cb71331e343f79efe3d35230	"A new association of @PHENOTYPICFEATURE$, short stature, unusual face, radio-ulnar synostosis and retinal @DISEASE$ abnormalities": Cohen syndrome with thrombocytopenia.	false
+ef956da99dbf4e3d4b6ce9b1eb904de3ea596de0	@DISEASE$ is an autosomal recessive disorder characterized by mental and motor retardation, @PHENOTYPICFEATURE$, microcephaly, several dysmorphic features, major ocular symptoms and granulocytopenia.	has_symptom
+18d60a479b7b022a47a3aa0a0c3965e9bede9af4	@DISEASE$ is an autosomal recessive disorder characterized by mental and motor retardation, short stature, @PHENOTYPICFEATURE$, several dysmorphic features, major ocular symptoms and granulocytopenia.	false
+6cd8cfbefe18b4cc3f11a657a97acf6fa2c4dfe8	Cohen syndrome is an autosomal recessive disorder characterized by mental and motor retardation, @DISEASE$, @PHENOTYPICFEATURE$, several dysmorphic features, major ocular symptoms and granulocytopenia.	false
+4787ccf72d398e53322e04ea7ed7801f6b4661c9	Previously known features of the @DISEASE$ (non-progressive mental retardation, @PHENOTYPICFEATURE$, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.	has_symptom
+58c5a301d8b3e079fd83ca1e69af262f3777c718	Previously known features of the @DISEASE$ (non-progressive mental retardation, short stature, @PHENOTYPICFEATURE$, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.	false
+74129fc6ee4c6a6b36d3d4bd34df0f460251ff1b	Previously known features of the Cohen syndrome (non-progressive mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised.	false
+00a7c9c719e98770cf1369bc975507a47010561c	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @PHENOTYPICFEATURE$, and truncal obesity.	has_symptom
+e4f24883915ea82a7beabde47d4a7308a390a901	Cohen syndrome is a rare @DISEASE$ caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+6b1d548c06307d8806dc56e5afa7f0b907bc27b5	Cohen syndrome is a rare @DISEASE$ caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @PHENOTYPICFEATURE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+106611c9015e6c4508fd23c0103e0deb21815db6	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @PHENOTYPICFEATURE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @DISEASE$, and truncal obesity.	false
+26a66fdfa09c88587c45ccf4f8bd0f6f058a756b	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched @DISEASE$, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+20b920a4b9b048a69472dd28b0bb6c5e8d436dd7	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, @DISEASE$, and truncal obesity.	false
+4b8f98edf28ac1f114f9bd659ed399a8ef376752	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal @DISEASE$.	false
+558fefc1d64f49a866c54fe0a8e7ab4c5b2f5ec3	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, @DISEASE$, and truncal obesity.	false
+653564925a7984252f89edd48df880134ac95af5	Cohen syndrome is a rare @DISEASE$ caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+63848231efe25051e2425cf83c2942b30f0b211d	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+4b247b3bed05315a5f05c8ceb5d16710d5f3f492	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched @DISEASE$, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+0fb51ae5548e2f81d6dfd069f5df7d721108899d	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @PHENOTYPICFEATURE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+79857b640553ac291a56b8d0e480f3841f799cbe	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, @PHENOTYPICFEATURE$, prominent upper central incisors, poor dentition, short stature, and truncal @DISEASE$.	false
+059d73565fa82561e23c749c67b33fc16baa7762	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @PHENOTYPICFEATURE$, narrow and high-arched @DISEASE$, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+2e9b3d380d5ea1dc1a3476d7dcf4cb36aaee71cf	Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, @PHENOTYPICFEATURE$, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal @DISEASE$.	false
+7d35c9093d7cac53b378f32be5212425a67a852f	@DISEASE$ is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: @PHENOTYPICFEATURE$, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity.	false
+8737932e8d4f5ca410b6db5ee3f1e333d9426f1a	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and neoplasms, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial @PHENOTYPICFEATURE$, @DISEASE$ (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	has_symptom
+ae0c9cf556d8baf7811b86f59da50ba75764259e	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and @PHENOTYPICFEATURE$, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial @DISEASE$, granulomatosis with polyangiitis (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	false
+3557f2e0b1d0a379b5e408e7e761fee7b363758e	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral @DISEASE$ and @PHENOTYPICFEATURE$, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, granulomatosis with polyangiitis (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	false
+f60c2c51f3e6d1ed228b334b6824c932ddec6206	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and @PHENOTYPICFEATURE$, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, granulomatosis with polyangiitis (Wegener granulomatosis), @DISEASE$, and erythroplakia.	false
+4ace779ce8ad1acb840d2a07fce8c677386131bf	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and @PHENOTYPICFEATURE$, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, @DISEASE$ (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	false
+9cf8172dd34a20b976060ad1c8d484ec946428c6	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and @PHENOTYPICFEATURE$, pyogenic granuloma, localized juvenile spongiotic gingival @DISEASE$, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, granulomatosis with polyangiitis (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	false
+916801a44721918ef784bc0710fb8077a113a69c	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and @PHENOTYPICFEATURE$, @DISEASE$, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, granulomatosis with polyangiitis (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	false
+142f294f69a37ec88ea518e6f0d7dbb261ad80e3	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @PHENOTYPICFEATURE$, congenital cataracts, joint contractures, skin changes, and failure to thrive.	has_symptom
+2d42928e13c2c09127ba686ea2f266bda7dbcfbc	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+52b1f6be23ad0c16fee888e3be7f84245f304df6	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+8f55aa5963661af668df1ed077df7bdb0ab5b36f	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital @DISEASE$, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	false
+5eae9056b9c5622c62313cf7a965ef17230a9566	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+2225074c16d469f63b3039852a17da7c5ce60658	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+d5466cf78735fad04e1189af48948e01d6a3f3a4	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	false
+104815f4152206745727d7ff2e1bec006696280a	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @DISEASE$, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+1aee86a70efbfb5b4608103c7db498cbd6a99bda	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and failure to thrive.	false
+2cae15f393621832d15a0d9997035beb7ee86b55	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+e56009c4becbe54538b649c460b1434092397b84	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, @DISEASE$, congenital cataracts, @PHENOTYPICFEATURE$, skin changes, and failure to thrive.	false
+baea1ba77b55569d39c7479c7ea832f0e3ae45e3	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital @DISEASE$, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+943197d887463c0e53bc852654ca9dafd2a32aa4	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, @PHENOTYPICFEATURE$, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+4d1b34e452f61b469c68381d01d184e30f73f8dc	@DISEASE$ (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe @PHENOTYPICFEATURE$, and seizures.	has_symptom
+3fb726614b5af6aa360b559d4e0e5bc7844770e3	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including @DISEASE$, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe @PHENOTYPICFEATURE$, and seizures.	has_symptom
+217184780e407f9528e5b787ad7a9f4294a026aa	@DISEASE$ (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and @PHENOTYPICFEATURE$.	false
+c16c24628bdc76be79c311b30143dc5cf43a0959	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital @DISEASE$, profound postnatal growth retardation, severe intellectual disability, and @PHENOTYPICFEATURE$.	false
+917f5120bf6ac8dfaa781a32f07c230b38d46c71	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5bbba9817d3c45c8790d5574db8ed61c15689370	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including @DISEASE$, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and @PHENOTYPICFEATURE$.	false
+6dd075476d56d10ed504d11db4d118dbf432d60a	@DISEASE$ (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately short stature primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and @PHENOTYPICFEATURE$.	has_symptom
+fc9238f9d3323e54b26e044787836c6d4a5e2938	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a @PHENOTYPICFEATURE$ primarily affecting the proximal parts of the extremities, typical dysmorphic @DISEASE$ appearance, congenital contractures and severe growth and mental retardation.	false
+be985aecb238500b299ee1597e4b46638652e11e	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a @PHENOTYPICFEATURE$ primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and @DISEASE$.	false
+612df36b1aa1fef92a60f81733b9418291c11371	Rhizomelic chondrodysplasia punctata (RCDP) is an @DISEASE$ characterized clinically by a @PHENOTYPICFEATURE$ primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation.	false
+3796cb98f3dd61c8c56e9609e507dc78eb4c071a	@DISEASE$ (RCDP) is an autosomal recessive disease characterized clinically by a @PHENOTYPICFEATURE$ primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation.	false
+0fb1b5dc90894bc31820a14a8a55d4906ef8a656	Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a @PHENOTYPICFEATURE$ primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, @DISEASE$ and severe growth and mental retardation.	false
+b763d002ff5b5b3aed556ee0cbf4b180987e6fe9	@DISEASE$ (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and @PHENOTYPICFEATURE$.	has_symptom
+5092d92107b5d6fa979b1d6e1eb4ee86fc87590f	@DISEASE$ (RCDP) is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired motor development, and @PHENOTYPICFEATURE$.	has_symptom
+79b20e3ccfb6292ff196a2aa7c54c9a8d581ec00	Rhizomelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal ossification, impaired motor development, and @DISEASE$.	false
+dc8faf0aef5981b30e2bd91149adf8730a9ff8f2	@DISEASE$ (RCDP) is a developmental disorder characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal ossification, impaired motor development, and intellectual disability.	false
+40e94fc8db6216aa79019b26a621eb51f8d00a5c	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, @DISEASE$ (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, @PHENOTYPICFEATURE$, and skeletal abnormalities.	has_symptom
+db91155e0d8b6c28405f3945a6d8eb12ace5643b	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes @DISEASE$, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+e3401a8cd1ceede04da71f86672a00d3c0eb7454	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, @DISEASE$ (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+718c3e408d3bfe578c191a47f07151b394589d6d	A defect in the alkyl-phospholipid biosynthetic pathway causes a @DISEASE$, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+b262ffd65669cc8dd97de80f5963908ae6344366	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d2d87c756b9d8ab4996ef93d375d5a698c677116	Clinical symptoms and signs in our patient attributable to @DISEASE$ include muscular hypotonia, @PHENOTYPICFEATURE$ (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy.	has_symptom
+9be201f84ed93a28f107c3c844384df73cfcd9b0	Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular hypotonia, @DISEASE$ (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+c7e3e9ed7bab372fcc14b4c919ecd4ee4d9441d8	Clinical symptoms and signs in our patient attributable to MCC deficiency include @PHENOTYPICFEATURE$, @DISEASE$ (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy.	false
+31d9d0ed4d670c3309a9c38a997ad2ede267a7de	Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular hypotonia, failure to thrive (already present at birth), progressive @DISEASE$ due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+f2cbba24b61134dd51caa29dd89afc993fb4fcd3	Clinical symptoms and signs in our patient attributable to MCC deficiency include @PHENOTYPICFEATURE$, failure to thrive (already present at birth), progressive @DISEASE$ due to diaphragmatic paresis and a moderate brain atrophy.	false
+d92389539fea37814f2d25b327605dc3b2e7e09c	Clinical symptoms and signs in our patient attributable to @DISEASE$ include muscular hypotonia, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+714268f8f04a2fcd501d60f510d5cb8ed7ca05cd	Clinical symptoms and signs in our patient attributable to @DISEASE$ include @PHENOTYPICFEATURE$, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy.	false
+c5a090494d61ad4d1e99825dbd350f522f66ad12	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @PHENOTYPICFEATURE$, intellectual disability, cardiac abnormalities, and developmental delay.	has_symptom
+b53d05f7b8bb9beb4af9d35a1f09bd19a03174c9	Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @DISEASE$, @PHENOTYPICFEATURE$, cardiac abnormalities, and developmental delay.	false
+da548aba1050e1e1eac45f9be8f77db80838c4bf	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, @PHENOTYPICFEATURE$, and developmental delay.	false
+7e3fefa176598cf72e9956bd81c65c8f20274857	@DISEASE$ (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, @PHENOTYPICFEATURE$, cardiac abnormalities, and developmental delay.	false
+929e7ae65ce3b68654ef0f80e17a7b4d6148da0b	Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, and developmental delay.	false
+01a6ed49c63407a2c24266cc9d1da74447aa6cc1	@DISEASE$ (RS) is one of the most frequent causes of @PHENOTYPICFEATURE$ in females.	has_symptom
+9d1278b21bf9d68a863c9c515a77dea3331c0b3f	Syndrome of microcephaly, @PHENOTYPICFEATURE$, and tracheoesophageal fistula associated with features of @DISEASE$.	has_symptom
+2893bd8ffa4e8a8f0749dadeea2f9d1320d2398a	Syndrome of @PHENOTYPICFEATURE$, mental retardation, and tracheoesophageal fistula associated with features of @DISEASE$.	false
+e10b982b16d563d7e072d4725c5e45b535d71ed9	Syndrome of @PHENOTYPICFEATURE$, @DISEASE$, and tracheoesophageal fistula associated with features of Rett syndrome.	false
+f015fad40a8086f99447f051eb173b97e1497bab	@DISEASE$ (Rett) is the leading genetic cause of @PHENOTYPICFEATURE$ in females.	has_symptom
+7419ebff450ec12804cadd7edab9a22f90c252c1	@DISEASE$ (RTT) is a neurological disorder and a leading cause of @PHENOTYPICFEATURE$ in females.	has_symptom
+e118410e6812b7b7ed36c00ede2c3da284c299b1	An institution for the @PHENOTYPICFEATURE$ was surveyed to determine the prevalence rate of @DISEASE$ (RS).	has_symptom
+7f4f821ca6168db4b5d2d49bd85a27d71714cd2d	@DISEASE$ (RTT) is a neurodevelopmental disorder with neurological symptoms, such as motor disorders and @PHENOTYPICFEATURE$.	has_symptom
+6d5e2e0d18d76f57cde21a111e6695613e837e51	We report on four @PHENOTYPICFEATURE$ girls with typical clinical signs of @DISEASE$.	has_symptom
+bee690660f49f78760cfa4a6cae039088ceb75ee	@DISEASE$, an X-linked neurodevelopmental disorder, is a major cause of @PHENOTYPICFEATURE$ in females.	has_symptom
+9c14440f02a81e03d52c754bb51392a7f032fca0	@DISEASE$ (RS) is a neurodevelopmental disorder and the second major cause of @PHENOTYPICFEATURE$ in females.	has_symptom
+597b5ee162d40ca4aef40715f4e541c4dc609b69	@DISEASE$ (RTT) is a major neurodevelopmental disorder, characterized by @PHENOTYPICFEATURE$ and autistic behavior.	has_symptom
+eb73779ff3357308e9c92996ed7fbba188980e61	Adult onset Still's disease (@DISEASE$) is a systemic inflammatory disorder characterized by @PHENOTYPICFEATURE$, arthritis, and rash.	has_symptom
+11ea2129114a587cfa5c59c80adf820f651450d2	Adult-onset Still's disease (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, rash, and joint pain and may lead to chronic arthritis.	has_symptom
+d998216c0e649b2029e02da4f719783370c841ee	Adult-onset Still disease (@DISEASE$) is a systemic inflammatory disease characterized by @PHENOTYPICFEATURE$, arthritis and rash.	has_symptom
+e7b55c9c13d907c1bb23cffc54c2c8a8718cd6f2	@DISEASE$ (AOSD) is a systemic inflammatory disease characterized by @PHENOTYPICFEATURE$, arthritis and rash.	has_symptom
+59639641d2a25f357207e639b8a8e05062b5fdb4	Adult-onset Still disease (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, skin rash, and lymphadenopathy with leukocytosis and anemia as common laboratory findings.	has_symptom
+690ae006cde40cdd788a34a66c4be7f64a6a3eba	@DISEASE$ (AOSD) is characterized by @PHENOTYPICFEATURE$, skin rash, and lymphadenopathy with leukocytosis and anemia as common laboratory findings.	has_symptom
+14177c592f8297f6034c82ff6e4d2d927a0d09f4	The diagnosis of @DISEASE$ was established in accordance with the Yamaguchi classification criteria, including arthralgia, @PHENOTYPICFEATURE$, sore throat, rash and hepatosplenomegaly.	has_symptom
+ad9eb860b70bf2c1eae4adc7624361f4a35be3f2	Adult onset Still disease (@DISEASE$) is a chronic inflammatory disease which presents with @PHENOTYPICFEATURE$, arthritis and typical skin rashes.	has_symptom
+39bd6d57e24c5676b6b4dbad732b726962ebf6c4	@DISEASE$ (AOSD) is a chronic inflammatory disease which presents with @PHENOTYPICFEATURE$, arthritis and typical skin rashes.	has_symptom
+a4c033f3f665821fcdeb6e36f83d32d64defe1e8	Adult onset Still disease (AOSD) is a chronic inflammatory disease which presents with fever, @DISEASE$ and typical @PHENOTYPICFEATURE$.	false
+28a5dbd2615f38a3690c206adc9d3860342df49f	Adult onset Still disease (AOSD) is a chronic inflammatory disease which presents with @DISEASE$, arthritis and typical @PHENOTYPICFEATURE$.	false
+27381596647c6612406cb1447efcd20662e24eab	@DISEASE$ (AOSD) is a chronic inflammatory disease which presents with fever, arthritis and typical @PHENOTYPICFEATURE$.	false
+1d250255eab48281a8f732c66740b0823c87f68b	Adult onset Still disease (@DISEASE$) is a chronic inflammatory disease which presents with fever, arthritis and typical @PHENOTYPICFEATURE$.	false
+dff595ea507841dbfbba3c95950d3599a517ec10	@DISEASE$ (AOSD) is an uncommon disorder characterized by @PHENOTYPICFEATURE$, polyarthralgia, elevated white blood cell count, and a maculopapular rash, the histologic features of which have not been well-known.	has_symptom
+3b56612244e0cc524b15f89237827410eb643282	Adult-onset Still disease (@DISEASE$) is an uncommon disorder characterized by @PHENOTYPICFEATURE$, polyarthralgia, elevated white blood cell count, and a maculopapular rash, the histologic features of which have not been well-known.	has_symptom
+39b5ed316bdd6cfcf0a9b8469d00312fe4969d6a	Recurrent arthritis, @PHENOTYPICFEATURE$ and lymphadenopathy are symptoms of adult onset of Still's disease (@DISEASE$).	has_symptom
+d6aef317bfd494fdb5e686944d219d505854d285	Adult-onset Still's disease (@DISEASE$) is a rare inflammatory condition characterized by @PHENOTYPICFEATURE$, rash, and arthritis.	has_symptom
+9b14da1ed26bbacf00a2fce64feb53747489f247	Adult-onset Still's disease (@DISEASE$) is a rare inflammatory disorder typically characterized by @PHENOTYPICFEATURE$, arthritis, and hyperferritinemia.	has_symptom
+ff06e39efae30b57086d88542e2912b784a1d6fc	Bilateral @PHENOTYPICFEATURE$ and chronic renal failure were observed in a 48-year-old woman with the classic clinical features of the @DISEASE$, Type I (OFD-I).	has_symptom
+96d38f9daeda496a6cc7c9b0312f865dab393f20	GH therapy was effective for @DISEASE$ @PHENOTYPICFEATURE$ accompanied by GHD, and no new safety concerns were found in this study.	has_symptom
+2a09d6f639679ad2b6135d6741ebae124180a4f6	Three children receiving rhGH for @PHENOTYPICFEATURE$ with Turner syndrome, Jeune syndrome, or @DISEASE$.	has_symptom
+6303f6b3761c5260c062da6f8c1675c9f3cf67a0	Whether BMI captures adiposity and cardiometabolic risk in @DISEASE$ (DS), a condition associated with obesity, @PHENOTYPICFEATURE$, and altered body proportions, is not known.	has_symptom
+ce63693f668c76ef0ef37d764100950d4f3a6d13	Whether BMI captures adiposity and cardiometabolic risk in @DISEASE$ (DS), a condition associated with @PHENOTYPICFEATURE$, short stature, and altered body proportions, is not known.	false
+42cb1f0daf61ab2325ff7733286620a2dff4bf83	Whether BMI captures adiposity and cardiometabolic risk in Down syndrome (DS), a condition associated with @PHENOTYPICFEATURE$, @DISEASE$, and altered body proportions, is not known.	false
+d516162a04719a84447e7bcdd0eff9b621a26663	Results: Sixteen articles were found covering type-1 diabetes mellitus (DM), @PHENOTYPICFEATURE$ (SS), and @DISEASE$ (DS).	has_symptom
+71d40736c9c04c1b217a6f0004c4f3b2c1d0964b	17.1% of the patients had @DISEASE$ (DS), 11.4% @PHENOTYPICFEATURE$, and 5.7% had type 1 diabetes mellitus.	has_symptom
+a34511dfd4c951ffe6fea10ab6fe8231979941ac	@PHENOTYPICFEATURE$ is a well-recognized component of @DISEASE$.	has_symptom
+23dc419b881c56df929f280052ae599ca3a6d7cc	As a result, @DISEASE$ patients had a @PHENOTYPICFEATURE$ with a quite normal weight.	has_symptom
+2a6fdc88f33294a567f2d27984e2866ad5a4e1e8	@DISEASE$ (DS) is associated with @PHENOTYPICFEATURE$ and psychomotor delay.	has_symptom
+4b0a47d315a99c4f09eb33e712405fde7289ba87	@DISEASE$ (DS) is associated with @PHENOTYPICFEATURE$ and obesity.	has_symptom
+a9cc890148d1dca64afd0e3b187be67289e5edb3	@DISEASE$ (DS) is associated with short stature and @PHENOTYPICFEATURE$.	false
+76f8372e8c0dead08ea063aff78e386308c5da83	Down syndrome (DS) is associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+515e03c73e5d1ed5ada1c21935fa3ba0bd2de9d9	Learning disability and @PHENOTYPICFEATURE$ are cardinal signs of @DISEASE$.	has_symptom
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+5daa03db960a15a5ecafa6a432735008fefdd572	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1524a17790cfda5defb4618bfa5098d9b25675ae	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+4510ac59597f5523250429c713aefded09247406	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+523fdc45c7801dbd04e343473e32bd4af7f52f0c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @DISEASE$, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e15a09993e79b694de2c5f76267b89bfe36fca08	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+067d83acedb309fd61064770abf7db4a917313e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+71476b525a9a0b7832e30f44f04b67821f3d12a4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+312e821121bb15d7c50b1574deeb5b936c932045	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+1a059dc6b367b4db9018e75ed6386b7fb97803e5	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+b941a4707a39047cc049bc4f9507e20162c96269	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+3252e5b77401d7c73e97fb8681166d3c8e8968da	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+a49cccf72ed22ad18db25be58f049063683b83bc	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+67dd052b36c78a397c8a82d49e0ffc7395fd5e6b	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+bcaba964b378238bab32a5704d35e5141d8596b9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+d4addaf946983c99020bdc22a80aff4b30c34cef	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+50534e0d73e98d4b479d42873cfb589e342cca41	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2c4349e2597ba5ec5740624480d8c46a03908a10	@DISEASE$ (WS2) is associated with syndromic @PHENOTYPICFEATURE$.	has_symptom
+d27bb199b1198e0773f2c1f7825d6000003ddf2e	The finding of an MITF variant fits well with the syndromic phenotype involving both depigmentation and an increased risk for @PHENOTYPICFEATURE$ and corresponds to human @DISEASE$.	has_symptom
+fbd233146adb80fde16bab81c19b685ea982381c	Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and @PHENOTYPICFEATURE$ syndromes @DISEASE$ (WS2A) and Tietz syndrome (TS).	has_symptom
+c9aadd26f0dc7eeb166b7210093680e1c5b02858	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness syndromes Waardenburg syndrome type 2A (WS2A) and @DISEASE$ (TS).	false
+79b4cf0a7b70090b6cceef2936d56811ce2b5213	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness syndromes @DISEASE$ (WS2A) and Tietz syndrome (TS).	false
+4fae071b98115421f764266c636ea5525e2cefdb	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness @DISEASE$ Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).	false
+f94a6a9768d4350fe191f7ae08ddfc24e599465d	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and @DISEASE$ syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).	false
+97d11241a140f5730358ff4b158bca9122bcdc23	In humans, MITF mutations cause @DISEASE$ (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in @PHENOTYPICFEATURE$ and hypopigmentation.	has_symptom
+66f24da2cb7919b4c02a9c477808ddccd2c25d39	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and @DISEASE$, autosomal dominant disorders resulting in deafness and @PHENOTYPICFEATURE$.	false
+12fb3e1b1be60fb90de4107464177ebdfd1eeef9	In humans, MITF mutations cause @DISEASE$ (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and @PHENOTYPICFEATURE$.	false
+8fa797a3342d1487ddc82b7adfee14181fbea83e	In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+33fb7ba79dc32f1e099d6c7b9cbd032087c9299a	To differentiate this syndrome against @DISEASE$ which is complicated by @PHENOTYPICFEATURE$ twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful.	has_symptom
+57be9ac0ee6fd474888e0cd44839f1116eba3476	The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to @DISEASE$ and retinal degeneration, deafness, @PHENOTYPICFEATURE$ with relatively spared intellectual functions.	has_symptom
+bb082f0a0d8be4ae727630218d2c63938b8f1d6c	The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and @PHENOTYPICFEATURE$, deafness, @DISEASE$ with relatively spared intellectual functions.	false
+640cd9a432270a544434677cfece7365464812ea	The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to @DISEASE$ and @PHENOTYPICFEATURE$, deafness, swallowing difficulties with relatively spared intellectual functions.	false
+0c18ba6eceabc7a4ec60abe6395c3ca2d3c88e72	The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to optic atrophy and retinal degeneration, @PHENOTYPICFEATURE$, @DISEASE$ with relatively spared intellectual functions.	false
+e166a979d5c070af3ddd6a8ea1ae681629d9c094	The full clinical picture included myoclonus, seizures, cerebellar ataxia, @PHENOTYPICFEATURE$ due to @DISEASE$ and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions.	false
+e1c8c96be559ea2a01575e9b38d2654e9f567d9e	The full clinical picture included myoclonus, seizures, @PHENOTYPICFEATURE$, blindness due to @DISEASE$ and retinal degeneration, deafness, swallowing difficulties with relatively spared intellectual functions.	false
+fb20fa00cefd568e55744418fe65c5ef05967130	The full clinical picture included myoclonus, seizures, @PHENOTYPICFEATURE$, blindness due to optic atrophy and retinal degeneration, deafness, @DISEASE$ with relatively spared intellectual functions.	false
+e6758cd13a84279fab63481247ef8f9b95e973af	The full clinical picture included myoclonus, seizures, cerebellar ataxia, blindness due to @DISEASE$ and retinal degeneration, @PHENOTYPICFEATURE$, swallowing difficulties with relatively spared intellectual functions.	false
+0114108f6ebc829f94fe7f144d1ce89c3cf29a92	The full clinical picture included myoclonus, seizures, cerebellar ataxia, @PHENOTYPICFEATURE$ due to optic atrophy and retinal degeneration, deafness, @DISEASE$ with relatively spared intellectual functions.	false
+9f813268df8e256bde673dfe2868b348c3fe5e28	Development of @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+54f597f70fcd14d8ff02984af38613624e2594f8	The @DISEASE$ patient may show hypertonia in the early postnatal days as a result of @PHENOTYPICFEATURE$ during the second and third trimesters of pregnancy besides manifesting hypotonia, ataxia, growth and intellectual disability markedly with age accompanied by the congenital blepharoptosis and revealing the molar tooth sign on the magnetic resonance imaging, considering the medical history and the whole testing results, the compound heterozygous mutations of c.2999A > T (p.Glu1000Val) and deletion of exon 20-21 of CC2D2A gene in the pedigree may be the causal gene mutations.	has_symptom
+d43e4b1e52c684973488b9125a58dbf067018c86	The Joubert syndrome patient may show hypertonia in the early postnatal days as a result of @DISEASE$ during the second and third trimesters of pregnancy besides manifesting hypotonia, @PHENOTYPICFEATURE$, growth and intellectual disability markedly with age accompanied by the congenital blepharoptosis and revealing the molar tooth sign on the magnetic resonance imaging, considering the medical history and the whole testing results, the compound heterozygous mutations of c.2999A > T (p.Glu1000Val) and deletion of exon 20-21 of CC2D2A gene in the pedigree may be the causal gene mutations.	false
+8a5df5eb3b487283ff0d8d3efc7c4c5660d72aed	The @DISEASE$ patient may show hypertonia in the early postnatal days as a result of hydrocephalus during the second and third trimesters of pregnancy besides manifesting hypotonia, @PHENOTYPICFEATURE$, growth and intellectual disability markedly with age accompanied by the congenital blepharoptosis and revealing the molar tooth sign on the magnetic resonance imaging, considering the medical history and the whole testing results, the compound heterozygous mutations of c.2999A > T (p.Glu1000Val) and deletion of exon 20-21 of CC2D2A gene in the pedigree may be the causal gene mutations.	false
+c3d549d8773cb8884e3fb77e03b308e06fb7d622	Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of @DISEASE$, 12 of arachnoid cyst, nine of encephalocele, three of atresia of Monro and eight of corpus callosum agenesis, and 13% as secondary @PHENOTYPICFEATURE$.	has_symptom
+d5fe40ff617c6aef9dc42d825ca4448e26679535	Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of @DISEASE$, 12 of arachnoid cyst, nine of encephalocele, three of atresia of Monro and eight of @PHENOTYPICFEATURE$, and 13% as secondary hydrocephalus.	false
+538678e6b3d68b885c337c202dc7a779f060fe4f	Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of @DISEASE$, one case of Joubert syndrome, 12 of arachnoid cyst, nine of encephalocele, three of atresia of Monro and eight of @PHENOTYPICFEATURE$, and 13% as secondary hydrocephalus.	false
+3a5a172fa0368773d395a2364efb71fd2a1b4652	Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of Joubert syndrome, 12 of arachnoid cyst, nine of encephalocele, three of atresia of Monro and eight of @PHENOTYPICFEATURE$, and 13% as secondary @DISEASE$.	false
+0849c9a1c5a85535327cd8c5568c2f2ca2270022	Late-onset @PHENOTYPICFEATURE$ in a child with @DISEASE$: a case report.	has_symptom
+8ddd3de61688b5b9ac4dd116cd72c0d4df66ebe2	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	has_symptom
+b48b63eff2dc2f727b9b675b3d2c276a869a6d12	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+69fb925c49f6bdc0ac00caa6c31aeb8be510d1d4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+ed0dccdc87030a20943d172c409a234cfb37c88a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, @DISEASE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+0445b8696ba41afa1ae46133d8ecf6644c23cdc5	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+6c0b5253534648cafad296fe0c97f1870dd7d1a9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e895941f99f316a74063e84928d1b35dd2a5c38e	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+f444d8cfa3b092cac7c5cc60fe3d010703c0b1d8	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c783780f2dc9bf6f4bdd455f3b9d79bc47e388d0	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d56daeaf7f7ef28999838f2b71a9315abe206f50	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, @DISEASE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e0476b60cc771eca4aaee5212167750e0d1470ed	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+049cd0d1912b049f371fbf8e9091dcd7b85f1dfe	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c2ba37413b6fa3e442c88d21a47e83f129b538e7	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cb8caa8c097e0c4f6abc09c938a1d0b301246bb9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+3cca0a5b0c50f98855db4ea1524d282883c64d86	Overlap of polymicrogyria, @PHENOTYPICFEATURE$, and @DISEASE$ in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.	has_symptom
+4b4d532861ba7aba04918057f383370e19b27666	Neonatal hydrocephalus due to the altered anatomy of the posterior fossa has been reported earlier, but to our knowledge, this is the first case of a delayed onset of @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+fde0b826f9ce5c9e6ac3f85a8c6616e26f9f5ecd	Neonatal @PHENOTYPICFEATURE$ due to the altered anatomy of the posterior fossa has been reported earlier, but to our knowledge, this is the first case of a delayed onset of hydrocephalus in a patient with @DISEASE$.	has_symptom
+217184780e407f9528e5b787ad7a9f4294a026aa	@DISEASE$ (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+5bbba9817d3c45c8790d5574db8ed61c15689370	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including @DISEASE$, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and @PHENOTYPICFEATURE$.	has_symptom
+3fb726614b5af6aa360b559d4e0e5bc7844770e3	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including @DISEASE$, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe @PHENOTYPICFEATURE$, and seizures.	false
+51604272c9992ecdf056c0dc275374847cebf2f7	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital @DISEASE$, profound postnatal growth retardation, severe @PHENOTYPICFEATURE$, and seizures.	false
+7a2d3e3f555384d444c61f7cefa1701099bd5317	Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4d1b34e452f61b469c68381d01d184e30f73f8dc	@DISEASE$ (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe @PHENOTYPICFEATURE$, and seizures.	false
+e70dafd94fc1e4cb6592e831bfa8339afce207cb	We report @DISEASE$ (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and @PHENOTYPICFEATURE$ but without any biochemical abnormality.	has_symptom
+68ecb4b3205df150c38639249a33407785bd6e3a	Unlike other MPS disorders involving excessive heparan and dermatan sulfate, @DISEASE$ has not been associated with neurological involvement nor with @PHENOTYPICFEATURE$ as this disorder of keratan sulfate has been described as a purely visceral and skeletal disorder.	has_symptom
+10915a246323bffffe322e79af24c744c591ac5b	@DISEASE$ with hyperuricosuria and variably absorptive @PHENOTYPICFEATURE$ and urolithiasis--a new syndrome.	has_symptom
+a72909ab87b7095d5292477af1772b1898db7e10	Leukoencephalopathy, @PHENOTYPICFEATURE$, and cysts (@DISEASE$) is a rare disease that was first reported by Labrune in 1996.	has_symptom
+e4a8d5fee6a36233b320bd15572b0f5ffa24ea0d	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by edematous leukoencephalopathy, @PHENOTYPICFEATURE$, and parenchymal cysts.	has_symptom
+c20055b7d4f8544bb2830acf61a0a1d96ce1326d	@DISEASE$ (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, @PHENOTYPICFEATURE$, and parenchymal cysts.	has_symptom
+272bc5e4f06744db8aaad448bc36ab5182c88e76	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by edematous @PHENOTYPICFEATURE$, cerebral calcifications, and parenchymal cysts.	false
+ca5fcb3e70dd1fb0b269c86d2c5106feaa5b5f1c	Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous @PHENOTYPICFEATURE$, @DISEASE$, and parenchymal cysts.	false
+5aaa13cb5f1364d0080ef28a17ee2ef87d9c63cf	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, cerebral calcifications, and parenchymal cysts.	false
+c6242792c68367d71e52556585633d918caa43b5	Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, @DISEASE$, and parenchymal cysts.	false
+94286be11118b7bed01b77574445bac0e2554615	@DISEASE$ (LCC) is an uncommon entity characterized by edematous @PHENOTYPICFEATURE$, cerebral calcifications, and parenchymal cysts.	false
+be492c0a1eb05c2d454e0eb6cbf776f984c606e4	@DISEASE$ (LCC) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, cerebral calcifications, and parenchymal cysts.	false
+5f5b842ff080adf111cc7f11930718c82963333a	Association of leukoencephalopathy, @PHENOTYPICFEATURE$, and cysts (@DISEASE$) is a rare disorder that was recently described.	has_symptom
+1762d783941a730bf053256e5d63551a076c18cb	Extensive @PHENOTYPICFEATURE$ and leukoencephalopathy are seen in both Coats plus and @DISEASE$ (LCC; Labrune syndrome).	has_symptom
+5f30a346ca3d30351f61d19767b5edce515e934b	A total of 15 patients with @DISEASE$ were identified from our database of patients with @PHENOTYPICFEATURE$.	has_symptom
+5575d6de56c06eeb66afd856eb0376cf2248b5ca	Extensive @PHENOTYPICFEATURE$ and leukoencephalopathy have been reported in two rare disorders Coats plus and @DISEASE$.	has_symptom
+3063fce2a1bbd0d298666c4c43dab2e5cb2dbc2c	The combination of leukoencephalopathy, @PHENOTYPICFEATURE$, and cysts (@DISEASE$) constitutes a rare cerebral disorder characterized by distinctive neuroradiological and clinical findings.	has_symptom
+315b930eb38fbd2289b30f16872d89e1d6f48e48	Leukoencephalopathy, @PHENOTYPICFEATURE$, and cysts (@DISEASE$) is an extremely rare neurological disease, also known as Labrune syndrome.	has_symptom
+2be6f828763d78503a24095de5b0e7434596d114	The histopathologic hallmark of skin lesions in @DISEASE$ is psoriasiform epidermis with @PHENOTYPICFEATURE$ and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells.	has_symptom
+d2c43ae71e68676f76736b051bf46fa278eec3a8	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @PHENOTYPICFEATURE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	has_symptom
+2177528c83a4cf4847edf9907641d0476d2e3fe9	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @DISEASE$, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+17eeef2b18f211ae1fe73b22ea6f19d54f323130	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+a46726b9a6eaef281c075906c0087b537ddb62d0	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	false
+2db1891959fe4b3dc8dcf25b6f7a693fe00c47da	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+ec9d0e420f754950795018249963e71d34bc40e6	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+895db437b411fd5396fb3573e672acd2c648d734	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive @DISEASE$ disorder characterized by hyperphalangism of digits, facial dysmorphism, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+ddd5b474614e36bd2abdea52764e1b8d18f7bab7	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, @PHENOTYPICFEATURE$, sensorineural hearing loss, delayed motor and mental development, and growth retardation.	false
+0f8d37e47a6ba71cc241dbde00f154a1fdfd6c71	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	false
+6a9e2f7f6d72e10d4e2571e7bbdd6dcd2e291036	Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, @DISEASE$, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and @PHENOTYPICFEATURE$.	false
+f9184124671d4ad5796b5d7658a32890617bce46	@DISEASE$ is an autosomal-dominant condition characterised by widely patent calvarial sutures, @PHENOTYPICFEATURE$, supernumerary teeth and short stature.	has_symptom
+6183e1cb1b906e343c8b9e2df01603561973574d	@DISEASE$ is an @PHENOTYPICFEATURE$ condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and short stature.	false
+16a465b6d34cd1c0417454ca2e8dc2f6b16dbc1d	Cleidocranial dysplasia is an autosomal-dominant condition characterised by widely patent calvarial sutures, @DISEASE$, supernumerary teeth and @PHENOTYPICFEATURE$.	false
+1ec976042502e59a0f3f172d8ef8a62bfcd62573	Cleidocranial dysplasia is an @PHENOTYPICFEATURE$ condition characterised by widely patent calvarial sutures, @DISEASE$, supernumerary teeth and short stature.	false
+9739e4738baed860cca9155485e6e02590518fa4	@DISEASE$ is an autosomal-dominant condition characterised by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth and @PHENOTYPICFEATURE$.	false
+e704e1a820534dc9146a6a2babcb3351b4ed11be	MAP1B is implicated in fragile X @PHENOTYPICFEATURE$, @DISEASE$, and ataxia type 1.	has_symptom
+34479b6624fbcd294c67d44586dd76af850789b2	MAP1B is implicated in fragile X @DISEASE$, giant axonal neuropathy, and @PHENOTYPICFEATURE$ type 1.	false
+a7b45c5689be5df5acbe0d88d0232358098e8641	MAP1B is implicated in fragile X mental retardation, @DISEASE$, and @PHENOTYPICFEATURE$ type 1.	false
+533731c12371726410a17587e289454b54201c90	This patient had an atypical @DISEASE$ phenotype rather similar to Charcot-Marie-Tooth disease, without tightly curled hair and @PHENOTYPICFEATURE$.	has_symptom
+9ba26d5a1521f76d2df01ab80611e745340613ab	@DISEASE$ (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, @PHENOTYPICFEATURE$, kinky or curly hair, skeletal abnormalities and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments.	has_symptom
+1ff7c4532a3307847c1cc8efe129d97b5de31932	Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, @DISEASE$, kinky or curly hair, @PHENOTYPICFEATURE$ and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments.	false
+99ad453b4144e8d1f0202c0f8ffd990dd57b56e6	Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal @DISEASE$ during childhood, mental retardation, kinky or curly hair, @PHENOTYPICFEATURE$ and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments.	false
+c6dd1553487ce6f9deb37e53259b70518e111124	@DISEASE$ (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, @PHENOTYPICFEATURE$ and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments.	false
+47a71b8facc2d5d6ff8f8aed5be44900718ac0b5	We report a case of @DISEASE$ in a 14 year-old turkish boy with progressive chronic neuropathy and central involvement with @PHENOTYPICFEATURE$.	has_symptom
+b6353878c377ffa8bf312ae627238a927e6a4179	These four TMPRSS genes were then screened for mutations in affected members of the DFNB24 and @DISEASE$ deafness families, and in a cohort of 362 sporadic @PHENOTYPICFEATURE$ cases.	has_symptom
+2762115d4d04f21fc3370f8cf9253109d8ea5f69	These four TMPRSS genes were then screened for mutations in affected members of the DFNB24 and @DISEASE$ @PHENOTYPICFEATURE$ families, and in a cohort of 362 sporadic deaf cases.	has_symptom
+aff7a7e31e033f30c1fb1913051d0cdbd0aa3f19	A 64-year-old man presented with @PHENOTYPICFEATURE$, asthenia, and increasing abdominal girth caused by a large @DISEASE$ in the left retroperitoneum.	has_symptom
+34e3d04a7b91ab468c6ae282df2bdcbf7a640ece	@DISEASE$ (DRPLA) is a rare, autosomal dominant, clinically heterogeneous neurodegenerative disorder characterised clinically by progressive dementia, ataxia, chorea, @PHENOTYPICFEATURE$ epilepsy and psychiatric disturbance and pathologically by combined degeneration of the dentatorubral and pallidoluysian systems.	has_symptom
+756829f59a58c4ec9a2fcc007720f8325ab51d4b	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare, autosomal dominant, clinically heterogeneous neurodegenerative disorder characterised clinically by progressive dementia, @PHENOTYPICFEATURE$, chorea, @DISEASE$ epilepsy and psychiatric disturbance and pathologically by combined degeneration of the dentatorubral and pallidoluysian systems.	false
+6b2df42cb92728bccecd7fde65668e23c3124fd0	@DISEASE$ (DRPLA) is a rare, autosomal dominant, clinically heterogeneous neurodegenerative disorder characterised clinically by progressive dementia, @PHENOTYPICFEATURE$, chorea, myoclonic epilepsy and psychiatric disturbance and pathologically by combined degeneration of the dentatorubral and pallidoluysian systems.	false
+9582af38b17e4a6757c2bbec0d3bfe546b3496c6	Early-onset childhood @DISEASE$ involved mental retardation, whereas @PHENOTYPICFEATURE$ epilepsy was the predominant complaint in later-onset childhood version of the disease.	has_symptom
+aec19b06ee21608f6e7e2f46240dca7712de663f	Early-onset childhood dentatorubral-pallidoluysian atrophy involved @PHENOTYPICFEATURE$, whereas @DISEASE$ epilepsy was the predominant complaint in later-onset childhood version of the disease.	false
+a63149367e32ea34ac2f6ef94dac2e17e9afc439	Early-onset childhood @DISEASE$ involved @PHENOTYPICFEATURE$, whereas myoclonic epilepsy was the predominant complaint in later-onset childhood version of the disease.	false
+0f8515fd180f121ecc58ea09823eea4d31c85ed4	The genetic differences between two types of dominant inherited myoclonus epilepsy, @DISEASE$ (DRPLA) and benign adult familial @PHENOTYPICFEATURE$ epilepsy (BAFME), have been reported.	has_symptom
+a8206d515df32e460b82f88948edfecde86f1e19	The genetic differences between two types of dominant inherited @PHENOTYPICFEATURE$ epilepsy, @DISEASE$ (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported.	has_symptom
+5efd31e35519d8c9ece04f084d0e5628cabf0bc6	We present a patient with proven @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+1776add4dd69ada324d7826f127e7716a24f1ce8	@DISEASE$ and primary @PHENOTYPICFEATURE$: first case.	has_symptom
+c2f0bb68d35c9d9ee8f4662c948514c8f929949e	Effect of topiramate on @PHENOTYPICFEATURE$ and respiratory dysrhythmia in @DISEASE$.	has_symptom
+038944e1ac8654f7e4d7855991c7c44cca46a795	To investigate risk factors for @PHENOTYPICFEATURE$ onset in @DISEASE$.	has_symptom
+6c814c39c5dfe550937938f81c0c269da1d22b11	@DISEASE$: a case presenting with atypical @PHENOTYPICFEATURE$.	has_symptom
+7e2208322e3e28c6c4094676c9f06da295316f7e	Furthermore, she resembles the early @PHENOTYPICFEATURE$ variant of @DISEASE$.	has_symptom
+8e960c75971960092fbf36ee6c12c7b0370484ff	@PHENOTYPICFEATURE$ are reported to occur frequently in @DISEASE$.	has_symptom
+73911ea0ea65fb64b1a1cfdbcfce088e4050b27e	@PHENOTYPICFEATURE$ are reported to occur frequently in @DISEASE$ (RS).	has_symptom
+8953a74db3918d865da5eb40fe0b3098705aff00	Naltrexone in the management of @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+2df65117459efadae8211befbede784f18d0ac8c	Predictors of @PHENOTYPICFEATURE$ onset in @DISEASE$.	has_symptom
+dc44159403a8b747fc8295bbf97be3d54589e799	@PHENOTYPICFEATURE$ in @DISEASE$: an overview from a one-year calendar study.	has_symptom
+5babb65a8fabb1b8b1621a2f550c83e8c76a99d8	@PHENOTYPICFEATURE$ and pain uncertainty associated with parenting stress and @DISEASE$.	has_symptom
+5f6ec41444c62ee6431daee1db53cdef26a8e8e5	A case of congenital familial @PHENOTYPICFEATURE$ with simultaneous @DISEASE$ is presented.	has_symptom
+c527a1dd81d499b4eddf941cdb12a80933f97fde	Here, we report 9 and 10-year-old cousins with @DISEASE$ caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and @PHENOTYPICFEATURE$ that began during early infancy.	has_symptom
+b826176afcc4df6afcfd4841356604eda1f70cfc	Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, @PHENOTYPICFEATURE$, behavioral problems, and @DISEASE$ that began during early infancy.	false
+cdaad860c9d63e7f758d85a9c3a6b5560bfaa5f2	Here, we report 9 and 10-year-old cousins with @DISEASE$ caused by a novel mutation who both exhibited neurodevelopmental retardation, @PHENOTYPICFEATURE$, behavioral problems, and autism that began during early infancy.	false
+8a7ba4537c0459a4df30e00d33fc5ef5a407fdd6	@DISEASE$ is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, seizures and @PHENOTYPICFEATURE$, particularly if low serum creatinine levels are observed.	has_symptom
+5d4777137eb022d16d3ad03d6bc818370059246c	GAMT deficiency is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, @PHENOTYPICFEATURE$ and @DISEASE$, particularly if low serum creatinine levels are observed.	false
+f7dd256841dd9e6652808087ea3df118edd709fa	GAMT deficiency is a treatable @DISEASE$ and should be considered for all patients with hypotonia, developmental delay, @PHENOTYPICFEATURE$ and autism, particularly if low serum creatinine levels are observed.	false
+c2a51a9261b947ccfbd9185ba0a8a6787b8c9a13	@DISEASE$ is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, @PHENOTYPICFEATURE$ and autism, particularly if low serum creatinine levels are observed.	false
+be069ce3c4e0514536c75a363188e97d06e94e1c	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @PHENOTYPICFEATURE$, diarrhea, failure to thrive, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	has_symptom
+d2fdc0379cde61932fb74527d64a358b304eb0a5	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, @DISEASE$, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+5f45467ca836f076c4cee8e40def71beb68a5d67	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+cb61424bc3cacd0d6f51bf16efd6d331d8c584b0	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @DISEASE$, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+077dc59a05363ebe80d0229a621103e0e8bf7a68	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+232a99b520c7ea86f86ba7728510ad4ed78bbd67	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+f1f13a02e8719b19e4670fecdda73819ed2fba88	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+63fd01dea5f8ff0f53edaa2bdce0a1baf3f527ea	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or @DISEASE$.	false
+d578898c652fdc4a3ce758969acf79eff555a01d	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, @DISEASE$, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+2e10972b89bb49d126af68162026205c9ccd89b1	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, @PHENOTYPICFEATURE$, hypoglycemia, coagulopathy, hemolysis or renal tubular acidosis.	false
+78aecaf325c72166e0435dc4ad9f779236bc647a	To the best of our knowledge, there is no case of galactosemia reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or @DISEASE$.	false
+f598a6ef06b64af75a2ea63366c78acd1fe0dfdd	Our previous reports have pointed out that the @DISEASE$ (RS) starts from early infancy with autistic behavior and @PHENOTYPICFEATURE$, and we have raised the hypothesis in regard to the pathophysiology that RS can be an early developmental disorder of the monoaminergic and indolamine systems.	has_symptom
+9d0f53e3bafe3b0c0c11267305baadf4996594e8	Myelomeningocele-associated @DISEASE$, @PHENOTYPICFEATURE$, Dandy-Walker malformation, and postmeningitic hydrocephalus are common causes of hydrocephalus.	false
+17d2f5725229d3a90a37502ba623d6bd7be0be17	Myelomeningocele-associated hydrocephalus, @PHENOTYPICFEATURE$, Dandy-Walker malformation, and postmeningitic hydrocephalus are common causes of @DISEASE$.	false
+014bafa5b81991de8785b571a9a29a19beb896a2	Myelomeningocele-associated hydrocephalus, @PHENOTYPICFEATURE$, Dandy-Walker malformation, and postmeningitic @DISEASE$ are common causes of hydrocephalus.	false
+8e1cc56096d812bc303eb05df4011be2f8a68916	Although physical features, including loss of hand skills, deceleration of head growth, @PHENOTYPICFEATURE$ and scoliosis, are cardinal features of @DISEASE$ (RS), a number of behavioural features are also associated with the disorder, including hand stereotypies, hyperventilation and breath holding.	has_symptom
+972e475af6be29f15c63faf7d52f5064fb5cf615	Presented is a case report of a 32-yr-old white woman with @DISEASE$, diagnosed before the age of 2 yr, and significant @PHENOTYPICFEATURE$ that was successfully managed with intrathecal baclofen.	has_symptom
+4feb680e09307ca37791f5d46325e54ca819c7ef	Thirty-eight subjects, aged 8-30 years, with @PHENOTYPICFEATURE$ of perinatal origin (11 hemiplegic, 11 quadriplegic, 16 with @DISEASE$) and 11 subjects with stroke in adulthood and spastic hemiplegia were also studied.	has_symptom
+e9ad72b5c55c0542177d6f4c2c23f9ca70b99f75	Specific mutations in MECP2 cause @DISEASE$ (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked intellectual disability (with and without @PHENOTYPICFEATURE$) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260).	has_symptom
+14556611e6cffdd2635b038a81c6062bcb9042aa	Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked @PHENOTYPICFEATURE$ (with and without @DISEASE$) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260).	false
+1830147ac016fd0dfc7d8f0c70274cdc9d372909	Specific mutations in MECP2 cause @DISEASE$ (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked @PHENOTYPICFEATURE$ (with and without spasticity) (OMIM 300055) and X-linked intellectual disability due to increased dosage of MECP2 (OMIM 300260).	false
+ac1b474331844bb83faff3f2ebbc4682b0d1be76	To identify the presence of a possible mutation in a Colombian family with several affected siblings and clinical characteristics compatible with @DISEASE$ associated to early @PHENOTYPICFEATURE$.	has_symptom
+960f8811ff33d9fcfb85900d2f011a1d2963e939	Three siblings with chemically proved @DISEASE$ presented with typical neurological manifestations of @PHENOTYPICFEATURE$ and spinocerebellar disorder.	has_symptom
+0dd42f1944998fa234d71e934b2c9eba219ddb03	Novel @DISEASE$ mutation causes familial early @PHENOTYPICFEATURE$ in Colombia.	has_symptom
+6b8e80c706e5c2abc8bd9fd20f05b587918408a7	He was diagnosted as having @DISEASE$ at the age of 5. Past medical history included recurrent cervical cellulitis, adrenal insufficiency, @PHENOTYPICFEATURE$, muscle weakness and seizure disorder.	has_symptom
+44c897e1305c285e21ba5dc3ae6771cad6b0a9cf	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, hyperuricemia, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	has_symptom
+a3942c0e826dd3f107af139ee608422536534d6b	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, @PHENOTYPICFEATURE$, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+921b9a3899799a26023520171ab926b258ae4bfc	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, @DISEASE$, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+5e18d5fc79c372e3775be8e5609e52df03357158	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a @DISEASE$ leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, @PHENOTYPICFEATURE$, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+ac7b2e7d845d6ede1828746a1d8726fdf08f1cb9	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, @DISEASE$, @PHENOTYPICFEATURE$, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+f039483cf02fa738a15164f1ba21b7090063434e	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a @DISEASE$ leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+eb91112eeb64dc062ff331b873259e3055cfc91f	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+4daed351c9d87d309bf34c4c1ee4e0dfb919c6e8	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, @DISEASE$, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+3ca0ebb4553c0c600989bb3fc9be22159f57dbcd	Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, @DISEASE$, lactic acidemia, hyperlipidemia, @PHENOTYPICFEATURE$, puberty delay and growth retardation, which can be indicated by height, weight, blood glucose and blood lipids.	false
+a6a49ca97b351acdcfee29eb74343763bc0cb5bc	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @PHENOTYPICFEATURE$, hyperuricemia, and lactic acidemia.	has_symptom
+366c96b01d96be8d4640db7c47e4af721674fc29	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, @DISEASE$, hyperuricemia, and lactic acidemia.	false
+775ddc7e2a69d62146deec1c4f2b4e6df295cf87	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+f2b10832a233780cc420c34ffdfa50ead2492f81	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+e56db6dcd79d3eebafcfde717fcf8ca7337effa1	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+34122a9f406c1260a2b4837dd3368cbbbd668d06	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+35b2b440396926dd0c4cfd91726dbb19da58548c	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (@DISEASE$-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+9861cdb7a92f3387fdfcbe4576193b51fd7d14df	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, @DISEASE$, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+7ca14caa676cd75da09fcdb267513fcf6fcd8985	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes @DISEASE$ (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+6b32780ce3dd2902386873200f233cd686e18b64	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, @DISEASE$, hepatomegaly, nephromegaly, hyperlipidemia, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+4018814a08cb7ad88c1f5e2a5492d2ce996cde13	Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+a704f307da8d3d1cecf0502f3d56a600f12aa145	Patients with deficient activity of hepatic glucose-6-phosphatase (@DISEASE$ [GSD-I]) have fasting-induced hypoglycemia, lactic acidemia, hyperuricemia, @PHENOTYPICFEATURE$, and a markedly increased capacity for ethanol elimination.	has_symptom
+b6b53b7f6fbb4b02f1f09c0c3738e2a33ad7b7a8	Patients with deficient activity of hepatic glucose-6-phosphatase (@DISEASE$ [GSD-I]) have fasting-induced hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, hyperlipidemia, and a markedly increased capacity for ethanol elimination.	false
+0040ca76f77382230dfb92eaa598c82943123145	Patients with deficient activity of hepatic glucose-6-phosphatase (glycogen storage disease type I [GSD-I]) have fasting-induced @DISEASE$, lactic acidemia, @PHENOTYPICFEATURE$, hyperlipidemia, and a markedly increased capacity for ethanol elimination.	false
+5ed1f0a2d59e33064d84436611dc788de2e1f9d0	Patients with deficient activity of hepatic glucose-6-phosphatase (glycogen storage disease type I [GSD-I]) have fasting-induced hypoglycemia, lactic acidemia, @PHENOTYPICFEATURE$, @DISEASE$, and a markedly increased capacity for ethanol elimination.	false
+56606a5c97e5e2b89846ce816b809069589e6934	@DISEASE$ (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and @PHENOTYPICFEATURE$.	has_symptom
+bc3bea1776cdf0b5172896fa3bbea7333f47d3e7	Glycogen storage disease type I (@DISEASE$ I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+c9e68f0f9587048518847d53c2b204fc3bf4b764	Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+49ceb4fc5a500a8e9c6a4d7b0ef1b66b3a91df96	@DISEASE$ (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+1b9b9a609cbe073453504edf34fe5e84aa7ed0c1	Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting @DISEASE$, lactic acidosis, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+cf4d9096b65d3f39f321b127285813b2a91bc0d0	To examine the evidence for a cochlear, retrocochlear, or central site of lesion for @PHENOTYPICFEATURE$ in two cochlear implant recipients with @DISEASE$ (KSS).	has_symptom
+38f4c81986192272499f1a633bcb0ca02dbc12c1	In four children with hypoparathyroidism and @PHENOTYPICFEATURE$ as initial major manifestations of @DISEASE$, a unique pattern of mitochondrial DNA rearrangements was observed.	has_symptom
+fc434a05048b77f0a39ba809b9e821f8106cd546	However, the incidence rate and severity of @PHENOTYPICFEATURE$ were much less in the chronic progressive external ophthalmoplegia (CPEO) subtype than in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF) and @DISEASE$ (KSS) subtypes.	has_symptom
+a6bb9a8fa1336b147d4217c468b9ea5f9a9a8c7b	However, the incidence rate and severity of @DISEASE$ were much less in the chronic progressive external ophthalmoplegia (CPEO) subtype than in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), @PHENOTYPICFEATURE$ epilepsy with ragged red fibers (MERRF) and Kearns-Sayre syndrome (KSS) subtypes.	false
+df5736fa0d94ee579654b06d588865f4efcaf0a1	However, the incidence rate and severity of hearing impairment were much less in the chronic progressive external ophthalmoplegia (CPEO) subtype than in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), @PHENOTYPICFEATURE$ epilepsy with ragged red fibers (MERRF) and @DISEASE$ (KSS) subtypes.	false
+f2aee7ed65d6de3323a00a5c3d116daa7e2a3330	The results showed that 32 patients, including 25 with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, one with @DISEASE$ (KSS), one with diabetes mellitus and @PHENOTYPICFEATURE$, and five with chronic progressive external ophthalmoplegia (CPEO), harbored the A3243G mtDNA mutation.	has_symptom
+e83d9681bdb13aeac62dcca83501fd29fbf0b87c	Other aetiologies included hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (5/37, 13?5%) and one patient each with autoimmune polyglandular syndrome type 1, @DISEASE$ and Kenny-Caffey syndrome.	has_symptom
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	has_symptom
+400f395c6a9cc021a580d5b518eb0de7c2df49d9	We describe the histopathologic features of the inner ear in a 19-year-old girl with bilateral total @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+7c162e97c3be3987a044014b44e277a0e2f70aae	Hypoparathyroidism and @PHENOTYPICFEATURE$ associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with @DISEASE$.	has_symptom
+81e6e66812651896043862429af80a483f49163e	@PHENOTYPICFEATURE$ and @DISEASE$ associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome.	false
+0a7619c8cb892194a27b929fb90bf2af47b40007	@PHENOTYPICFEATURE$ and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with @DISEASE$.	false
+28bcb8ee579559d9f1f19e50a5ad748881599717	Eight patients presented an isolated CPEO, three patients had an associated retinopathy (@DISEASE$), one case suffered from retinopathy, @PHENOTYPICFEATURE$, diabetes mellitus and dysphagia, and one patient had an associated dysphagia.	has_symptom
+f96cfa23ce19e08a657560c5d60c4bde4d4a7d5c	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the @DISEASE$, for example, can include cardiac abnormalities, diabetes mellitus, cerebellar ataxia, and @PHENOTYPICFEATURE$.	has_symptom
+7c965311bc3b63f9319f2e83194ec86e9361297b	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include cardiac abnormalities, diabetes mellitus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6381e0deacb8f9b2d3141bbf9ac508a8c6aa577f	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include cardiac abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, and deafness.	false
+3433931e13aeede60ca5123f384ccbb3e89b00c2	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the @DISEASE$, for example, can include @PHENOTYPICFEATURE$, diabetes mellitus, cerebellar ataxia, and deafness.	false
+320170ba55db59acf74505046126e8a1a40804ad	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include @PHENOTYPICFEATURE$, diabetes mellitus, cerebellar ataxia, and @DISEASE$.	false
+6a0fad7dd7bed513d7c3c92d95c9403a8df2896b	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the @DISEASE$, for example, can include cardiac abnormalities, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness.	false
+2e937f21ee11b03ae2afb8bf8a6f3c136b8ccfc8	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include @PHENOTYPICFEATURE$, @DISEASE$, cerebellar ataxia, and deafness.	false
+27ef1f323b246b6a8c61a885952638ae7d71d764	Presented here is a case in a 3-month-old male who presented with hypotonia and @PHENOTYPICFEATURE$ and was subsequently diagnosed with @DISEASE$.	has_symptom
+e16451b7ddd9602dc1ab900addc5c4de31275f1c	We report a male infant with @DISEASE$ who developed @PHENOTYPICFEATURE$ on the second day of life.	has_symptom
+bca3b5dce484cb65e00a3c8fd8826488738718de	One patient had a fatal neonatal form of @DISEASE$ with lack of spontaneous movement, respiratory failure, severe encephalopathy and intractable @PHENOTYPICFEATURE$.	has_symptom
+eb15e4fb530c5dfb391e344f554008f38e77d811	D-ribose, a simple and relatively cheap therapy, has been associated with improvement of behaviour and progressive reduction of the @PHENOTYPICFEATURE$ frequency in one 13-year-old patient with @DISEASE$.	has_symptom
+a81e55277984a6c286eb67c3db9b6025a0c4a8cc	@DISEASE$ with neonatal onset severe @PHENOTYPICFEATURE$ and sudden death.	has_symptom
+5ea38ec8d663167e607fb65e613cc924dfa2f007	In conclusion, a ketogenic diet could be considered a valid therapeutic option in patients with intractable @PHENOTYPICFEATURE$ in a course of @DISEASE$; however, it requires a formal study.	has_symptom
+f7c42eec6a211afcbbb8dec2de5f18e837461990	We report on two siblings with @DISEASE$, who developed @PHENOTYPICFEATURE$ on the first day of life.	has_symptom
+f4e1ba4adc535472b45299ddff84acb206e54277	@DISEASE$ should be considered in ferrets over 2 years of age that have clinical signs of @PHENOTYPICFEATURE$, episodic lethargy, ptyalism, ataxia, and hind limb weakness.	has_symptom
+7d756c67619b3140bf63a23653c7c63ae8c41005	Pancreatic beta cell tumors should be considered in ferrets over 2 years of age that have clinical signs of @DISEASE$, episodic lethargy, ptyalism, @PHENOTYPICFEATURE$, and hind limb weakness.	false
+c180fa8fb29d69f09669a884584a4f618917d969	@DISEASE$ should be considered in ferrets over 2 years of age that have clinical signs of seizures, episodic lethargy, ptyalism, @PHENOTYPICFEATURE$, and hind limb weakness.	false
+7003da7e6c017928ed8378efa03ea166e07c3b0c	Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, @PHENOTYPICFEATURE$, dysgenesis of the corpus callosum, cerebral white matter atrophy and spasticity likely constitute the minimal @DISEASE$ phenotype.	has_symptom
+f8557a5ae550d3dcb9bc4533225285bd76088aee	Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, @DISEASE$, dysgenesis of the corpus callosum, cerebral white matter atrophy and @PHENOTYPICFEATURE$ likely constitute the minimal desmosterolosis phenotype.	false
+beba76b29d0dded367a31e51a0cfed3a1a71ead5	Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, failure to thrive, dysgenesis of the corpus callosum, cerebral white matter atrophy and @PHENOTYPICFEATURE$ likely constitute the minimal @DISEASE$ phenotype.	false
+f205fc43bbd5ee039a878d66d5d32c4b1e8380f2	The object of the study was to assess the clinical efficacy of topical tacalcitol against ichthyoses with retentive @PHENOTYPICFEATURE$; @DISEASE$ (XLI), ichthyosis vulgaris (IV), and acquired ichthyosis (AI).	has_symptom
+7413bb3ee59c6a4a3ddb09dca6a5a76490c06d15	@DISEASE$ is an extremely rare @PHENOTYPICFEATURE$.	has_symptom
+b5d9426b305ba4667d00512f150734bc12d4ee7f	[An autopsy, case of @DISEASE$ accompanied with @PHENOTYPICFEATURE$ ascites].	has_symptom
+298c5448f4f8ae36b799ed2fb59db3db3bf4c719	Histologically, most @PHENOTYPICFEATURE$ are either diffuse @DISEASE$ or Burkitt lymphomas.	has_symptom
+6cbfe7b7ac13157aad9a9e914e372b80ffffe680	Histologically the @PHENOTYPICFEATURE$ was a @DISEASE$.	has_symptom
+222642a4282c257dd319637ee7217c27c43d2979	Histological morphology of @PHENOTYPICFEATURE$ exhibited diffuse @DISEASE$.	has_symptom
+2437b5dcd185b003a7b36fc3439625bda2074974	Residual @PHENOTYPICFEATURE$ masses following treatment for advanced @DISEASE$.	has_symptom
+b17ccaba7da19d7b2c7375f8a2ec833528de03c1	[Gastric interdigitating @DISEASE$: unusual presentation of a histiocytic @PHENOTYPICFEATURE$].	has_symptom
+aab41c4a2dd58d5132f1510900b2197945f36e02	Phenotypic and genotypic analysis of large-cell lymphomas, formerly classified as true @DISEASE$: identification of an unusual group of @PHENOTYPICFEATURE$.	has_symptom
+f6ec3d1de7828e710de74fd43aaa0b13587f96b8	Phenotypic and genotypic analysis of @DISEASE$, formerly classified as true histiocytic lymphoma: identification of an unusual group of @PHENOTYPICFEATURE$.	has_symptom
+eb8a8d5303137781685a714d39d9f2146bfa8716	Histologic examination of the excised @PHENOTYPICFEATURE$ showed @DISEASE$.	has_symptom
+ea686a802e5ec796cd260b70f099f60ab74b5a67	[Clinical aspects of @DISEASE$ and lymphoepithelial @PHENOTYPICFEATURE$].	has_symptom
+266c5ed2c43a31c8966723644b1a2ecaf210208c	@DISEASE$ is a rare neurodevelopmental syndrome associated with severe @PHENOTYPICFEATURE$, motor delay, and autistic traits.	has_symptom
+5a30906d0641aa87463953bb53dfb27493d3b422	22q13 deletion syndrome, also known as @DISEASE$, is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, hypotonia, delayed or absent speech, and autistic features.	has_symptom
+920971869df8893c85c049031a18fa838ed3e4a2	Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as @DISEASE$, result in a syndromic form of the autism spectrum as well as in global developmental delay, @PHENOTYPICFEATURE$, and several neuropsychiatric comorbidities.	has_symptom
+ca679af6b86421db7356af82207c5f071b77feb2	The SHANK3 gene encoding core scaffolding proteins at glutamatergic postsynapse is a typical dosage-sensitive gene, both deletions and duplications of which are associated with @DISEASE$, autism spectrum disorders, bipolar disorder, @PHENOTYPICFEATURE$, or schizophrenia.	has_symptom
+205c42d460a530fa6a0c3fe1675b0d627edfa39a	@DISEASE$ (PMDS) is a complex neurodevelopmental disorder characterized by global developmental delay, severely impaired speech, @PHENOTYPICFEATURE$, and an increased risk of autism spectrum disorders (ASDs).	has_symptom
+30680a153e04396f69f15d256757f1b98138523c	The 22q13.3 deletion, or @DISEASE$, is characterized by global @PHENOTYPICFEATURE$, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms.	has_symptom
+79672c3566f6907c6319c43ec4fab9832926676e	Haploinsufficiency of SHANK3, caused by chromosomal abnormalities or mutations that disrupt one copy of the gene, leads to a neurodevelopmental syndrome called @DISEASE$, symptoms of which can include absent or delayed speech, @PHENOTYPICFEATURE$, neurological changes and autism spectrum disorders.	has_symptom
+7b64451e6bcbddb1d54946fa727a2ad955eb66eb	SHANK3 mutations are responsible for @DISEASE$ but they are also associated with autism and/or @PHENOTYPICFEATURE$.	has_symptom
+845e88602f86c2eb814ce5d7a4241834f257ed16	SHANK3 mutations are responsible for @DISEASE$ but they are also associated with @PHENOTYPICFEATURE$ and/or intellectual disability.	false
+775d500e16ef750aded8bf41d9b9d111f3730436	SHANK3 mutations are responsible for Phelan-McDermid syndrome but they are also associated with @PHENOTYPICFEATURE$ and/or @DISEASE$.	false
+1466237fe9086314086f8c58e7fea81fbdcc23e2	En bloc multiorgan transplant (liver, pancreas, and kidney) for acute liver and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+e594bf63cd747a43dd4e8d456304cc6e383368a7	Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: @DISEASE$ with dementia and @PHENOTYPICFEATURE$ (HSAN1E) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN).	has_symptom
+2d0e576a45ea205afd7137235edd86a2136c15c6	@PHENOTYPICFEATURE$ in @DISEASE$: a systematic review.	has_symptom
+c13107563e5dccb5548bf90028c074c469ef2675	@PHENOTYPICFEATURE$ in patients with @DISEASE$ is common.	has_symptom
+e13f313164ef8772b435cb551ea4c6965f005528	To evaluate @PHENOTYPICFEATURE$ and cochlear function in non-ocular @DISEASE$.	has_symptom
+e4c6db6ccda1978481fb393b82c54160186f0c0b	@DISEASE$ is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, @PHENOTYPICFEATURE$, and arthritis.	has_symptom
+7afb3b25d15946e687ae3d7da6481c913eb5317e	@DISEASE$ causes ocular abnormalities, including retinal detachment and vitreoretinal degeneration, and systemic anomalies such as arthritis and @PHENOTYPICFEATURE$.	has_symptom
+84add683a167410d3b900a99c4970e7d23a70312	@PHENOTYPICFEATURE$ in non-ocular @DISEASE$ is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity.	has_symptom
+a3b9969233c55445dee1bba892f179d918bd2528	Stapedial fixation can be the cause of @PHENOTYPICFEATURE$ in @DISEASE$ type I (COL2A1).	has_symptom
+027a8ae9e5b1000bf9ed2d0c14c967ff78b4a259	Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and @PHENOTYPICFEATURE$, in variable degrees.We report the first case of prenatal diagnosis of @DISEASE$ in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios.	has_symptom
+8c78d9c0ae7d0cf86c5fcfd138e3cb4e641e18d7	@DISEASE$ or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and @PHENOTYPICFEATURE$, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios.	has_symptom
+5e73f010b1a918427a8578880fa0e835ce63606c	@DISEASE$, a condition characterized by ophthalmological and orofacial features, @PHENOTYPICFEATURE$ and arthritis, usually, but not exclusively, results from haploinsufficiency.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0bed974b0fd2597c4b1847e74b3e41cc6c404f30	Five patients with findings consistent with ochronosis, including @PHENOTYPICFEATURE$ of the ear and mild degenerative disease of the spine and large joints, were diagnosed clinically as having @DISEASE$, but the diagnosis was withdrawn based on normal urine HGA levels.	has_symptom
+ce37d7ecb262e91425f81e98b551d6c0fc52b8c8	Details of history, diagnostic tests, and treatment of an adolescent with @DISEASE$ associated with progressive scoliosis and cervical spine extension @PHENOTYPICFEATURE$ is presented.	has_symptom
+ffa697649f750a9087759a5b2435545969c845bb	Inherited myopathies are major causes of muscle atrophy and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal @PHENOTYPICFEATURE$.	has_symptom
+36dc596aa41c080084f77355b8f9f5da3000fa5e	Inherited @DISEASE$ are major causes of @PHENOTYPICFEATURE$ and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures.	false
+32d74913c7762b911b69755d320167deaa6687fd	Inherited myopathies are major causes of @PHENOTYPICFEATURE$ and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal @DISEASE$.	false
+f0936c8eb82878f28519435bc8e7ec359b8a6263	Inherited myopathies are major causes of @PHENOTYPICFEATURE$ and are often characterized by @DISEASE$, a clinical feature designating patients with early spinal contractures.	false
+fe099b96a3782cf976ca7fa409b90a0f3685f4c3	@DISEASE$ is a rare myopathy characterized by mild axial and proximal muscle weakness, limitation of neck and trunk flexion, scoliosis and mild @PHENOTYPICFEATURE$.	has_symptom
+c76638ee2e0557c343f134dc0622102b162be96c	@DISEASE$ is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal @PHENOTYPICFEATURE$ as a prominent feature.	has_symptom
+8a4b15e713c4028bc19870efe3105c6df6250de2	Additionally, FHL1 mutations have been discovered in @DISEASE$ and in a single family with @PHENOTYPICFEATURE$, rigid spine, and cardiomyopathy.	has_symptom
+27418152a9ccfef87822658b577323b7946bf8e5	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle @PHENOTYPICFEATURE$, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	has_symptom
+776e380b11e909ac2b7b61cdde8601e583512aea	Rigid spine syndrome is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle @DISEASE$, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	false
+a0b278371094ac40939831c650867570437c9782	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle @DISEASE$, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often respiratory failure.	false
+f9f5d6f91534121c6774a161cebd4b993fad557c	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often @DISEASE$.	false
+6c774e5daf840d978063a92e4ec5c4a74b9cf87c	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often @DISEASE$.	false
+c890e08c3dcc10122b222e6e3513d354bd915bd5	Rigid spine syndrome is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often @DISEASE$.	false
+9eede6796170d3a50f976b4c1c4029a989691247	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often respiratory failure.	false
+da7db9c84eef48e2ca35c47e2a876df9084d30d9	Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle @DISEASE$, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often respiratory failure.	false
+b8f5e4438844f721e8f23906a4400d2cb1deeeed	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often respiratory failure.	false
+461aa4e6f3f246704d232d368b10f66557111860	@DISEASE$ is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	false
+17c23bca49b7bc2bf3af3785a1459190e23c854c	@DISEASE$ (RSS) is clinically characterized by progressive limitation of flexion of the spine and @PHENOTYPICFEATURE$ of other joints.	has_symptom
+e3cd6441ca2c6599c1831b30e90458c5bd7cf261	Rigid spine syndrome (@DISEASE$) is clinically characterized by progressive limitation of flexion of the spine and @PHENOTYPICFEATURE$ of other joints.	has_symptom
+888c405aaf86e26fdcb22bac7ee665f91d013d1d	The @DISEASE$ is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, flexion contractures of the neck and spine, scoliosis, and @PHENOTYPICFEATURE$.	has_symptom
+ab6c81355e2e380dd0f4eabe152fb936a7609eaa	The @DISEASE$ is an unusual disorder characterized by nonprogressive mild axial and proximal muscle weakness, @PHENOTYPICFEATURE$ of the neck and spine, scoliosis, and joint contractures.	has_symptom
+e4b2187523c8da521de9781a3b71366511e1194a	Finally, @PHENOTYPICFEATURE$ and their relationship with myosclerosis, notably @DISEASE$, are discussed.	has_symptom
+c3350f8377c31a8b128f31182af36031aefc482e	We investigated a large German family (n = 37) with male members who had @PHENOTYPICFEATURE$, @DISEASE$, and hypertrophic cardiomyopathy.	has_symptom
+3571e1cc247f4015fdd314ef11169f9bbe95b82a	This study aimed to provide an epidemiological description of @PHENOTYPICFEATURE$ and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural history of @DISEASE$ and the efficacy of enzyme replacement therapy with agalsidase alpha.	has_symptom
+7449cb0d06fb1d3806c24f9b30e253b903f30b2c	This study aimed to provide an epidemiological description of @PHENOTYPICFEATURE$ and tinnitus in children with @DISEASE$ in the Fabry Outcome Survey (FOS), an international database to assess the natural history of Fabry disease and the efficacy of enzyme replacement therapy with agalsidase alpha.	has_symptom
+a6a2584f34ca99adcaef7be2c9215822a61a8b07	This study aimed to provide an epidemiological description of @DISEASE$ and @PHENOTYPICFEATURE$ in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural history of Fabry disease and the efficacy of enzyme replacement therapy with agalsidase alpha.	false
+911260e356d258b12bad0549baadd352e8d220ce	This study aimed to provide an epidemiological description of hearing impairment and @PHENOTYPICFEATURE$ in children with @DISEASE$ in the Fabry Outcome Survey (FOS), an international database to assess the natural history of Fabry disease and the efficacy of enzyme replacement therapy with agalsidase alpha.	false
+a240ac09d2ac9d059e5dff51c97957d7ecaa1718	This study aimed to provide an epidemiological description of hearing impairment and @PHENOTYPICFEATURE$ in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural history of @DISEASE$ and the efficacy of enzyme replacement therapy with agalsidase alpha.	false
+281fbed56bb76f749f11041bbee469a6a7c315dc	Studies involving large groups of patients have improved our understanding of @PHENOTYPICFEATURE$ and tinnitus in @DISEASE$.	has_symptom
+27f5f610ecea56fef7c46f620a6be373caf154ad	Studies involving large groups of patients have improved our understanding of @DISEASE$ and @PHENOTYPICFEATURE$ in Fabry disease.	false
+0ee6535017a21a416c287044d7d49dbbd572883e	Studies involving large groups of patients have improved our understanding of hearing impairment and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c10da2a806249af5e09f4a7f2d709f6ca088d09c	This is the first evidence of a high incidence of both progressive hearing loss and sudden @PHENOTYPICFEATURE$ in a cohort of male patients affected with classic @DISEASE$.	has_symptom
+65d3f05e3016aea74db2fedf11e864c57885dd32	Thus, a large proportion of patients with @DISEASE$ suffer from sensorineural hearing loss, with both progressive hearing impairment and sudden @PHENOTYPICFEATURE$, and peripheral vestibular deficits with dizziness and vertigo.	has_symptom
+50317ecbd40cd25dd494a55993cd2380fb79af3d	Thus, a large proportion of patients with Fabry's disease suffer from @PHENOTYPICFEATURE$, with both progressive hearing impairment and sudden @DISEASE$, and peripheral vestibular deficits with dizziness and vertigo.	false
+ae07ac047c92ed9fd26937eebca91908edfb6dd5	Thus, a large proportion of patients with Fabry's disease suffer from @PHENOTYPICFEATURE$, with both progressive @DISEASE$ and sudden deafness, and peripheral vestibular deficits with dizziness and vertigo.	false
+02f9012c5f37e003bca4171f27b71526323fc12e	Thus, a large proportion of patients with @DISEASE$ suffer from @PHENOTYPICFEATURE$, with both progressive hearing impairment and sudden deafness, and peripheral vestibular deficits with dizziness and vertigo.	false
+9639e444c98e7ca0ad6f915425e3e1c3e9ae7663	Hearing in @DISEASE$ is significantly worse than in an age-matched general population but leads to clinically relevant @PHENOTYPICFEATURE$ in only 16% of cases.	has_symptom
+66f06a4e61c299b3645823b1ab54c81998fd49bb	Patients affected with @DISEASE$ have an increased incidence of progressive hearing loss and sudden @PHENOTYPICFEATURE$: an investigation of twenty-two hemizygous male patients.	has_symptom
+137d1580502d5bc198dbaf4305862a6083a9eeeb	Both men and women with @DISEASE$ are affected by @PHENOTYPICFEATURE$.	has_symptom
+6dc7280af6bdeba61dd00b84b212f0ca2ccee6a6	The primary outcome was moderate/severe functional disability (@DISEASE$) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), @PHENOTYPICFEATURE$ (requiring bilateral hearing aids) or blindness (visual acuity <6/60 in the better eye).	has_symptom
+438ffde2f12070e892d3985ea8d773b5c509de9d	The primary outcome was moderate/severe functional disability (@DISEASE$) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), @PHENOTYPICFEATURE$ (unable to walk without aids), deafness (requiring bilateral hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+cd1d44d40ecfa6da86e1217682c3d4d4e5293a1e	The primary outcome was moderate/severe functional disability (@DISEASE$) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), deafness (requiring @PHENOTYPICFEATURE$ hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+51e1d56dccb152dcb7cb0bbf171b878196698767	The primary outcome was moderate/severe functional disability (@DISEASE$) at 2-3 years follow-up defined as @PHENOTYPICFEATURE$ (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), deafness (requiring bilateral hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+3583b8dcfe421dbe4a02f3b1c9a444ac29ebb0d0	The primary outcome was moderate/severe functional disability (FD) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), @PHENOTYPICFEATURE$ (unable to walk without aids), @DISEASE$ (requiring bilateral hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+33c44bcbe8e2eeef1a1161b0d4cf35f990232a7d	The primary outcome was moderate/severe functional disability (FD) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), @DISEASE$ (requiring @PHENOTYPICFEATURE$ hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+406910911e0a89446951972b108b8fc3e0b4262b	The primary outcome was moderate/severe functional disability (@DISEASE$) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), deafness (requiring bilateral hearing aids) or @PHENOTYPICFEATURE$ (visual acuity <6/60 in the better eye).	false
+b7b8b8072e80d069563a9ff51b6c2bf24fcd89a9	The primary outcome was moderate/severe functional disability (FD) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), @DISEASE$ (requiring bilateral hearing aids) or @PHENOTYPICFEATURE$ (visual acuity <6/60 in the better eye).	false
+cfde73de3cd9eeb9f3f9d9b65b2dda5ff091e8ae	The primary outcome was moderate/severe functional disability (FD) at 2-3 years follow-up defined as @PHENOTYPICFEATURE$ (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), cerebral palsy (unable to walk without aids), @DISEASE$ (requiring bilateral hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+bd1c782b1320e4026bafd627b284e15ff9476469	Until now few details are available on @PHENOTYPICFEATURE$ in patients with @DISEASE$, and especially few relating to female patients.	has_symptom
+6fc5c64d15e258245492114ba82ce068392673fc	A 40-year-old man with @DISEASE$, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral @PHENOTYPICFEATURE$, as evidenced by clinical history and audiometry.	has_symptom
+117996f7ee33bbfb9417f4f97a67f1f90561aa9e	@DISEASE$ is part of a group disorders, the conorenal syndromes, that are characterized by cone-shaped epiphyses with chronic renal disease in childhood and are variously associated with retinitis pigmentosa, cerebral @PHENOTYPICFEATURE$, and/or abnormalities of the proximal epiphyses and femur metaphyses.	has_symptom
+938f6d1adda6c32ad36bc031da37ca43593f4052	The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and @PHENOTYPICFEATURE$ (@DISEASE$), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy.	has_symptom
+7e17cc15769c5e72e0527dcd140bf779c43a54a3	Three patients had essential tremor, one had nonprogressive @PHENOTYPICFEATURE$, and one had @DISEASE$.	has_symptom
+f65997b2cf917e7f536aaf2422a0a81d2b3a05fb	In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile @PHENOTYPICFEATURE$ may present as @DISEASE$.	has_symptom
+2c8e15f6757be7532ce20e0ec25b12565f25d3b8	Of 16 patients, we reached a conclusive diagnosis for 11 (4 patients with GLUT-1 mutations, 4 patients with early @PHENOTYPICFEATURE$'s disease, 2 with @DISEASE$, and one with a psychogenic/functional movement disorder).	has_symptom
+975b50df985d81e7f3f8b23d6053aae228e54ab5	Of 16 patients, we reached a conclusive diagnosis for 11 (4 patients with GLUT-1 mutations, 4 patients with early Parkinson's disease, 2 with @DISEASE$, and one with a psychogenic/functional @PHENOTYPICFEATURE$).	false
+95e19b21a4127441ffb4d1a4953fd3fc3caa74ae	Of 16 patients, we reached a conclusive diagnosis for 11 (4 patients with GLUT-1 mutations, 4 patients with early @DISEASE$'s disease, 2 with dopa-responsive dystonia, and one with a psychogenic/functional @PHENOTYPICFEATURE$).	false
+93ee88343dafbfcacb722df69ab8b2896d9fa203	It can be hypothesised that impaired mt?? and mitochondrial ATP synthase activity may contribute to episodes of @PHENOTYPICFEATURE$ that occurred unexpectedly in @DISEASE$ patients.	has_symptom
+40864503bee831447ae3152030b8756b635d7069	Though progressive multifocal leucencephalopathy (@DISEASE$) may manifest with @PHENOTYPICFEATURE$, including bilateral visual loss as the presenting manifestation, in single patients, it has not been described in association with left ventricular hypertrabeculation/noncompaction (LVHT).	has_symptom
+286fe6f710dd93d6700f3c7cfac409619f94c03f	Though progressive multifocal leucencephalopathy (PML) may manifest with @DISEASE$, including bilateral @PHENOTYPICFEATURE$ as the presenting manifestation, in single patients, it has not been described in association with left ventricular hypertrabeculation/noncompaction (LVHT).	false
+6292f4ee7b23e9c25cd85d766c02f463e6c19c3b	Though progressive multifocal leucencephalopathy (@DISEASE$) may manifest with visual impairment, including bilateral @PHENOTYPICFEATURE$ as the presenting manifestation, in single patients, it has not been described in association with left ventricular hypertrabeculation/noncompaction (LVHT).	false
+b66f096a3bf938b1135609184e21d3864003717a	The absence of omphalocele and imperforate anus in our patient places him toward classic bladder exstrophy while presence of @PHENOTYPICFEATURE$ and the absence of coccyx suggest an overlap with @DISEASE$.	has_symptom
+1b2e7818a0d212663fc43b512a6027308f7719b0	This study is the first to demonstrate associative relationships between cholesterol levels and @PHENOTYPICFEATURE$ in youth with @DISEASE$.	has_symptom
+9d28fdc18cf5880f13b29780ed8f7df01dceb51c	Also included is the utilization of mTOR inhibitors in both advanced @PHENOTYPICFEATURE$ (RCC) and in patients with tuberous sclerosis complex (@DISEASE$) associated angiomyolipoma (AML).	has_symptom
+063a79c4d5f13cf644769446c7aefbe371d12729	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	has_symptom
+5ca59320bc4d1d6c79525184301e690213acf174	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, @DISEASE$, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+80e0abd412a686fea4dddfce8dbf9fba86aec021	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+7843edda02777fea7ff72a700cc61c6242bf21ec	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+55c6808fe74f7164709d4b92121b45cc139d9857	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+32aba66edde852a3e87d6ddf48f980ca8435496b	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+8dd76063125e9031985310cd9addad6da9918f1d	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+52eb18a1086d02bc85747d81c64e3dd901538fb2	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, @PHENOTYPICFEATURE$, epilepsy, mental retardation, arrhinencephaly, @DISEASE$, anatomic bronchial anomalies, and renal anomalies.	false
+f1f594cda8f7f969efcafa837873728953d7ab41	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, @DISEASE$, anatomic bronchial anomalies, and renal anomalies.	false
+a54a3845070c3c5f73c350d9cfbd9400f546c70f	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, @PHENOTYPICFEATURE$, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+edb0ab9de6fecf94f981520a83c334bcfc58b1e1	Finally, although @DISEASE$ is a rare disorder, this diagnosis should be considered and assessed using a simple urinary screening method for the presence of succinylpurines in any patient with @PHENOTYPICFEATURE$ of unexplained origin.	has_symptom
+e67da048d29b9dfbc56791636d4da8fec6e2e54f	Patients with @DISEASE$ show a variable combination of @PHENOTYPICFEATURE$, epilepsy and autistic features and are usually discovered during screens for unexplained encephalopathy using the Bratton-Marshall assay that reveals the excretion of the succinylaminoimidazolecarboxamide riboside (SAICAr).	has_symptom
+6c8f58b77ee5cc2968c97e191f0bb18c0de31015	On the basis of this observation, although @DISEASE$ is a rare disorder, this diagnosis should be considered in patients with @PHENOTYPICFEATURE$ and a behavioural profile suggestive of Angelman syndrome.	has_symptom
+45ba00aaf1c2ebe85096d16682f2352e186caf53	Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency), severe @PHENOTYPICFEATURE$, and other neurological symptoms (Lesch-Nyhan disease, @DISEASE$, and molybdenum cofactor deficiency).	has_symptom
+73a20bffcb8d4734542d8cfcfd9c03e3153f00ff	We present a 10-month-old boy who presented with @PHENOTYPICFEATURE$, abdominal distention and hepatomegaly and who was finally diagnosed with @DISEASE$.	has_symptom
+c7b0f09d3422bdd0633066e5b7ddbb7458864a02	@DISEASE$ repeat in patients with Huntington's disease-like and @PHENOTYPICFEATURE$.	has_symptom
+2a0bb0a84678fbb15b7ed6bead97c05c3e3e34b7	The characteristics of this family broaden the clinical picture of @DISEASE$: initial presenile dementia with behavioral symptoms should be added to @PHENOTYPICFEATURE$, rigidity, and dystonic movements, which are more commonly encountered.	has_symptom
+0d1c393161e278b29d99846d6f3eccb1033f910a	@DISEASE$ (SCA17) is an autosomal dominantly inherited, neurodegenerative disease characterized by @PHENOTYPICFEATURE$, involuntary movements, and dementia.	has_symptom
+c1526c78d34052619ec68f7b2eddd3c1ae364a31	An expanded polyglutamine domain in the TATA-binding protein (TBP) has been described in patients with @DISEASE$ (SCA17) characterized by @PHENOTYPICFEATURE$ associated with dementia.	has_symptom
+c3f36795675a74909e24ce4ef6771a26f8301660	The patient's underlying diagnoses included spinocerebellar ataxia type 2 (SCA2), fragile X associated tremor ataxia syndrome (FXTAS), a case of idiopathic @PHENOTYPICFEATURE$ (ataxia not otherwise specified [NOS]), @DISEASE$ (SCA17), and a senataxin mutation (SETX).	has_symptom
+cdad58b0341ed93468f8801258dcb0ba9e80aff9	The patient's underlying diagnoses included spinocerebellar ataxia type 2 (SCA2), fragile X associated tremor ataxia syndrome (FXTAS), a case of idiopathic ataxia (@PHENOTYPICFEATURE$ not otherwise specified [NOS]), @DISEASE$ (SCA17), and a senataxin mutation (SETX).	has_symptom
+4ddd165487a8237fa095c5a52245e9c9ecfad852	Dementia, @PHENOTYPICFEATURE$, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with @DISEASE$.	has_symptom
+cb3891498fd452cae0460ddebce809d5edaf28da	@DISEASE$ (SCA17) is a type of autosomal dominant cerebellar ataxia (ADCA) characterized by variable manifestations, including @PHENOTYPICFEATURE$, dementia, and psychiatric symptoms.	has_symptom
+a92d953c78286917ad87aa8262b4909e9b662460	Severity of @PHENOTYPICFEATURE$ was assessed in 238 patients with spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, spinocerebellar ataxia type 6, @DISEASE$, multiple system atrophy-cerebellar variant, or Gerstman-Str?ussler-Scheinker disease.	has_symptom
+d83e6d325a71bb64241e0f9c1c9f2dce0c58c5f1	The @DISEASE$ (SCA17) is characterized by @PHENOTYPICFEATURE$, dementia, and involuntary movements, including chorea and dystonia.	has_symptom
+830e3c606d978ff03ed201c66343fb02b4bcd41a	@DISEASE$ (SCA17) is a rare autosomal dominantly inherited neurodegenerative disorder presenting with a variable phenotype including @PHENOTYPICFEATURE$, dystonia, chorea, and parkinsonism, as well as cognitive impairment.	has_symptom
+114e8feb2b106f684bf21c027ff7a0d9892f110c	We reviewed the records of 485 boys with childhood @DISEASE$, determined those with acute presentation, and classified them as adrenal crisis, @PHENOTYPICFEATURE$, or encephalopathy.	has_symptom
+0ea5ad61bf1c23dbafa4e6a41f014ef34cb1e215	A female patient is described in whom the disease clinical picture, as regards the localization of the multiple lesions in the nervous system (optic nerves, pyramid and cerebellar paths), the undulatory course of the process, and the characteristic manifestations (@PHENOTYPICFEATURE$, intellect derangement) combined symptoms of both disseminated and @DISEASE$.	has_symptom
+80399280274239fa49454cabeb0b3410d3103f78	The presence of adrenal insufficiency, neurologic deficits and @PHENOTYPICFEATURE$ are common manifestations of @DISEASE$.	has_symptom
+04dcfb9843c81b5e84164cc02b264ad62d10afc7	Most young patients with @DISEASE$ develop @PHENOTYPICFEATURE$ and progressive neurologic deficits, and die within the first two decades of life.	has_symptom
+04dcfb9843c81b5e84164cc02b264ad62d10afc7	Most young patients with @DISEASE$ develop @PHENOTYPICFEATURE$ and progressive neurologic deficits, and die within the first two decades of life.	has_symptom
+e5222f9450394e96e28fd6e71c4ea50f84e8912c	It has a wide spectrum of clinical manifestations that anaesthesiologists should recognise during the perioperative period (respiratory centre dysfunction, hypotonia, adrenal or hepatic failure, gastroesophageal reflux disease, osteopenia, @PHENOTYPICFEATURE$).The case is presented of a 42-year-old @DISEASE$ female carrier, who underwent combined general and an ultrasound-guided interscalene brachial plexus block anaesthesia for shoulder arthroscopy.	has_symptom
+cb12546ac418bd50571dda6e849d9cf870c80ee9	The atypical initial symptom of @DISEASE$ was @PHENOTYPICFEATURE$.	has_symptom
+7a6c97db47f8cde846c15ffbd00cd644f1f443c3	The boy with @DISEASE$ manifested neurological signs (impaired spatial orientation, visual disturbances, poor handwriting, @PHENOTYPICFEATURE$).	has_symptom
+4339f676c03c3f6b664256f2d270ebb19bc745c4	@DISEASE$ should be suspected in young males presenting with @PHENOTYPICFEATURE$, acute decline in neurologic function, with persistently elevated CSF protein and MRS lactate.	has_symptom
+ebdded4332127db1cdecda7fe9fb8e001d6700d9	The risk of @DISEASE$ is elevated in patients with HPT-JT, necessitating rapid treatment and complete tumor resection to reduce the morbidity and mortality associated with intractable @PHENOTYPICFEATURE$ due to local recurrence or metastatic disease.	has_symptom
+6f7575bb280a47ff46c61fc7b7bbd3fe0190297b	The risk of parathyroid carcinoma is elevated in patients with HPT-JT, necessitating rapid treatment and complete @PHENOTYPICFEATURE$ resection to reduce the morbidity and mortality associated with intractable @DISEASE$ due to local recurrence or metastatic disease.	false
+871bfcc85000171b7b143650dab680c6b729d78f	The risk of @DISEASE$ is elevated in patients with HPT-JT, necessitating rapid treatment and complete @PHENOTYPICFEATURE$ resection to reduce the morbidity and mortality associated with intractable hypercalcemia due to local recurrence or metastatic disease.	false
+df5208bc4582c1eb6f5e1647a64d20bf51d2bd2a	The risk of parathyroid carcinoma is elevated in patients with HPT-JT, necessitating rapid treatment and complete @PHENOTYPICFEATURE$ resection to reduce the morbidity and mortality associated with intractable hypercalcemia due to local recurrence or @DISEASE$.	false
+07a5f69026ba0c7f4e52a14cc19444750316bd13	@DISEASE$ versus parathyroid adenoma in patients with profound @PHENOTYPICFEATURE$.	has_symptom
+281564c14511dae645194dd66c99608075f1b435	In this series of patients with @DISEASE$ largely presenting with symptomatic @PHENOTYPICFEATURE$ and angioinvasive disease, only a minority achieved a durable remission.	has_symptom
+f38a52b2f77909dad24f023343ff4eb4dd0d0755	@DISEASE$ patients usually present with striking hyperparathyroidism and @PHENOTYPICFEATURE$, with the resultant related symptoms being more severe than those associated with parathyroid adenomas.	has_symptom
+478f4599b015a9d246b0337aafc54368bbd9aa4c	Parathyroid carcinoma patients usually present with striking @PHENOTYPICFEATURE$ and @DISEASE$, with the resultant related symptoms being more severe than those associated with parathyroid adenomas.	false
+859d45ae1544f6027c8e9a185ef0132d1576246b	Parathyroid carcinoma patients usually present with striking @PHENOTYPICFEATURE$ and hypercalcemia, with the resultant related symptoms being more severe than those associated with parathyroid @DISEASE$.	false
+dedacbf97858d0d430fd42f400f8818315a08772	@DISEASE$ patients usually present with striking @PHENOTYPICFEATURE$ and hypercalcemia, with the resultant related symptoms being more severe than those associated with parathyroid adenomas.	false
+fd1a0e505a8ee4a2196d45ff48ce2784367f30c3	Three patients with recurrent @DISEASE$ died of profound @PHENOTYPICFEATURE$, renal failure, or cardiac arrhythmia.	has_symptom
+65dd425f473312e4d370d922a583d9d68c575e01	Three patients with recurrent parathyroid carcinoma died of profound @DISEASE$, @PHENOTYPICFEATURE$, or cardiac arrhythmia.	false
+76a5bf0a07616c904439977327a3a9fe3547344c	Three patients with recurrent @DISEASE$ died of profound hypercalcemia, @PHENOTYPICFEATURE$, or cardiac arrhythmia.	false
+0663ac7a4ecb65bdff3cd573f19e523be33b5588	Three patients with recurrent @DISEASE$ died of profound hypercalcemia, renal failure, or @PHENOTYPICFEATURE$.	false
+9a965753d6e239baf5d4dc85d925cfedd25d2e7c	Three patients with recurrent parathyroid carcinoma died of profound @DISEASE$, renal failure, or @PHENOTYPICFEATURE$.	false
+ee688e7265f6611fa3e147c9be254b9c9e885a94	Most patients with @DISEASE$ suffer from symptoms related to marked @PHENOTYPICFEATURE$; the incidence of associated renal, bone, gastrointestinal, neuromuscular and psychological symptoms is much more frequent than in those with benign parathyroid adenomas.	has_symptom
+ae31a90f37cb3f33504ca50dcbde98f2abb42a4c	Two @DISEASE$ patients with several episodes of @PHENOTYPICFEATURE$ and multiple surgeries are described.	has_symptom
+a19686d156a6ba70d6a3f2d225ebe53fb2bf9ad1	We report a case of metastatic @DISEASE$ with two intracranial metastatic foci (in the left frontal lobe and left cerebellar hemisphere) identified at the time of the primary tumor diagnosis in a patient who presented with symptomatic @PHENOTYPICFEATURE$.	has_symptom
+2d2fd2c122d749a53136eaac811637b36cc6b2f9	We report a case of metastatic @DISEASE$ with two intracranial metastatic foci (in the left frontal lobe and left cerebellar hemisphere) identified at the time of the primary @PHENOTYPICFEATURE$ diagnosis in a patient who presented with symptomatic hypercalcemia.	false
+6514da9c7c53f0cdafcd5d54931e8b0f66f3d85c	We report a case of metastatic parathyroid carcinoma with two intracranial metastatic foci (in the left frontal lobe and left cerebellar hemisphere) identified at the time of the primary @PHENOTYPICFEATURE$ diagnosis in a patient who presented with symptomatic @DISEASE$.	false
+dc2d5fbe160302a95fe46030b46d910574aef309	Nine patients had hypercalcaemia caused by sarcoidosis, familial hypocalciuric @PHENOTYPICFEATURE$ or metastatic disease, and two had @DISEASE$.	has_symptom
+6e7f78df956b3a66b21829d7ac692e68cb93a736	In general, although patients with parathyroid carcinomas have more profound metabolic abnormalities than do patients with primary hyperparathyroidism, the metabolic manifestations in patients with @DISEASE$ are comparable with those in patients with parathyroid adenomas and profound @PHENOTYPICFEATURE$.	has_symptom
+1791258be1d1cbba8c3dd5eaef195e2da049919d	In addition to the ichthyotic eruptions and hair abnormalities, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and @PHENOTYPICFEATURE$; therefore, he was diagnosed with cardio-facio-cutaneous (@DISEASE$) syndrome.	has_symptom
+fc0bca3639acf3eab34696bfab74589f7f497f06	In addition to the ichthyotic eruptions and hair abnormalities, he also had a ventricular septal defect, mental @PHENOTYPICFEATURE$ retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (@DISEASE$) syndrome.	false
+3b1c1061eca1924852a7e2424866778dcc99a7b3	In addition to the ichthyotic eruptions and @PHENOTYPICFEATURE$, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (CFC) @DISEASE$.	false
+21c41ee46cd8202f789e5eef324ab585687d4e2c	In addition to the ichthyotic eruptions and @PHENOTYPICFEATURE$, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (@DISEASE$) syndrome.	false
+f65688c0c48324416a0a25c7c4969af796c0d7c3	In addition to the ichthyotic eruptions and hair abnormalities, he also had a ventricular septal defect, mental @PHENOTYPICFEATURE$ retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and @DISEASE$; therefore, he was diagnosed with cardio-facio-cutaneous (CFC) syndrome.	false
+8ed8171349d8b70309e104798ed8faf8a60aef05	In addition to the ichthyotic eruptions and hair abnormalities, he also had a ventricular septal defect, mental @PHENOTYPICFEATURE$ retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (CFC) @DISEASE$.	false
+9afad74c595ceb90e83b7c8ebdc03f999b013e81	In addition to the ichthyotic eruptions and @PHENOTYPICFEATURE$, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and @DISEASE$; therefore, he was diagnosed with cardio-facio-cutaneous (CFC) syndrome.	false
+19e2238d6a93020cc39038d18b0402e487a4d93c	We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent @PHENOTYPICFEATURE$, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of @DISEASE$ patients.	has_symptom
+33caa4b3783c56f07a75dc2c76b2a67a4255110d	We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent @DISEASE$, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/@PHENOTYPICFEATURE$, which are characteristic of CFC patients.	false
+50903317a8a44edeca5d33d990d3464bfa44f246	We describe on a young woman who presents clinical features of NS (short stature, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/@PHENOTYPICFEATURE$, which are characteristic of @DISEASE$ patients.	false
+d528e949127dbb8fe98993d14327ceeedfad4d9a	We describe on a young woman who presents clinical features of NS (@PHENOTYPICFEATURE$, triangular facies, with downslanting palpebral fissures and apparent @DISEASE$, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of CFC patients.	false
+478c0867a74ae09b63c5ec5166f50c0bc0583edb	We describe on a young woman who presents clinical features of NS (@PHENOTYPICFEATURE$, triangular facies, with downslanting palpebral fissures and apparent hypertelorism, webbed neck, pulmonary stenosis, bleeding diathesis, prominent corneal nerves), but with a more prominent ectodermal involvement (sparse and very coarse hair, sparse eyebrows and eyelashes) and developmental delay/mental retardation, which are characteristic of @DISEASE$ patients.	false
+e6b4ff1941f813dda18278ffca9ffd4d2de00d7c	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of @PHENOTYPICFEATURE$ associated with overgrowth and macrocephaly.	has_symptom
+35718fa1be8ccb356d405d1343a33ebcfb92c795	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of @DISEASE$ associated with overgrowth and @PHENOTYPICFEATURE$.	false
+53ae24edc29243723a0f3ddd84f4dabbda2f1895	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of intellectual disability associated with @PHENOTYPICFEATURE$ and macrocephaly.	false
+b38ac15ff85ce93e9348ca46c94752733674fc7b	Microdeletions and loss of function variants of NFIX are responsible for @DISEASE$ (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and @PHENOTYPICFEATURE$.	false
+4bc41a3de1b22cd5c2e125ac88f37458be69b63f	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan @DISEASE$), a syndromic form of intellectual disability associated with @PHENOTYPICFEATURE$ and macrocephaly.	false
+a03a33e3652229cd6c703a3c9f30da73c661dc0e	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan @DISEASE$), a syndromic form of intellectual disability associated with overgrowth and @PHENOTYPICFEATURE$.	false
+3f9775379a3d4b13de7ee7bf1bc9993868c628a3	Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of @DISEASE$ associated with @PHENOTYPICFEATURE$ and macrocephaly.	false
+147913cc5fd163dc0ee28866f5620d77719d7865	These patients exhibit variable @PHENOTYPICFEATURE$, short stature and small head circumference, which can be described as a reversed @DISEASE$ phenotype.	has_symptom
+dbe820f77bd56067bf3f0504db660864c2521461	These patients exhibit variable @DISEASE$, @PHENOTYPICFEATURE$ and small head circumference, which can be described as a reversed Sotos syndrome-2 phenotype.	false
+cd4dfb22b1018cec176f21eee09481253cd24131	These patients exhibit variable intellectual disability, @PHENOTYPICFEATURE$ and small head circumference, which can be described as a reversed @DISEASE$ phenotype.	false
+54d8a2196d47e79c9f3b94ec5d74ae3955235d93	We report a case of @DISEASE$ where the catatonia clearly followed the administration of neuroleptics and where the neurovegetative disturbance was remarkably severe, including episodes of tracheal spasm, apnoea and episodes of @PHENOTYPICFEATURE$, and sinus arrest requiring insertion of a temporary external pacing wire.	has_symptom
+6aa5490d769c0173924be9844aa97b0332ee72f7	We here describe a patient with late-infantile @DISEASE$ (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild @PHENOTYPICFEATURE$, and gaze palsy.	has_symptom
+0f84726ff075c2ee6be12fd7e89486f3394ac6b2	Impact of miglustat on evolution of atypical presentation of late-infantile-onset @DISEASE$ with early @PHENOTYPICFEATURE$, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.	has_symptom
+faa49ac93f7aaed96680a5d4c2dd8f813060ee2c	Difficulties in anesthetic management of patients with @PHENOTYPICFEATURE$: report of a patient with @DISEASE$.	has_symptom
+b77774d1333807e83327cae69595bc4c9cc2743f	The group consisted of patients with Pierre Robin sequence, @DISEASE$, Opitz's syndrome, Down syndrome with obstructive sleep apnea, Goldenhar's syndrome, Treacher Collins syndrome, and @PHENOTYPICFEATURE$.	has_symptom
+b077cbd10a43a5698903e912602d611f2f3fd6e6	In this case report the difficulties in anesthetic management of patients with @PHENOTYPICFEATURE$ and repeated anesthetic courses of a child with @DISEASE$ are presented.	has_symptom
+a7427e2ced42db6fb1b965b1b7103b9377516b85	Patients with a @PHENOTYPICFEATURE$ like @DISEASE$ present the anesthesiologist considerable problems when mask ventilation or endotracheal intubation is attempted.	has_symptom
+5b45712e665ffc5a1757aa50183e752b2fb29ddf	Children with @DISEASE$ typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and @PHENOTYPICFEATURE$.	has_symptom
+b879476e88721f5631b062fc1bf85d32a71bcebe	[Unilateral sensineural @PHENOTYPICFEATURE$ associated with mutations in the PAX3-gene in @DISEASE$].	has_symptom
+cb98b862527026d4738f46f04996a66a496be909	[@DISEASE$--autosomal dominant hereditary combination of multiple facial anomalies with cochlear @PHENOTYPICFEATURE$ (author's transl)].	has_symptom
+c8939461a8adb7671858b3b5589f60cc5499821f	Splotch mice have white spotting and @PHENOTYPICFEATURE$, suggesting that Splotch may be the murine homologue of @DISEASE$.	has_symptom
+57f31949055885c61f713b93fb8340aeacd1c0b4	Nine patients (5%) had chromosomal aneuploidy, and 12 patients (7%) had either a family history of dominant @PHENOTYPICFEATURE$ (7/ 12) or a recognizable autosomal dominant syndrome (5/12), most commonly, @DISEASE$ (4/5).	has_symptom
+b095587226dec99eebdcdcac5096516ae52910ad	These previously unreported digenic mutations in PAX3/GJB2 resulted in @PHENOTYPICFEATURE$ associated with @DISEASE$ in this family.	has_symptom
+9f50838f1d5f001a1516e91af52b00d9b2a07970	@DISEASE$ (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and @PHENOTYPICFEATURE$.	has_symptom
+9204217ce33fb2e03e8506c598ca59967f5ce295	@DISEASE$ (WS1) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, abnormal iris pigmentation, and congenital hearing loss.	false
+b371058c6870a7e03f2b5d843931af9dcbc04ef3	Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, abnormal iris @DISEASE$, and congenital hearing loss.	false
+713c8364e5c33d1e1d44a6842f8fba566dbc4884	Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, abnormal iris pigmentation, and @DISEASE$.	false
+a2564449b6b59b7fea284224de66c91df7ad6788	The incidence of @PHENOTYPICFEATURE$ is non-randomly distributed among families segregating for @DISEASE$ (WS1).	has_symptom
+680d8f550358312c21f7cc74f6ee520d42ea3f9d	@DISEASE$ is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, hairy elbows, facial dysmorphism, and developmental delay.	has_symptom
+6f755625f84540e80e016bfe29d0d956d1fe32c5	Wiedemann-Steiner syndrome is a rare genetic disorder characterized by @DISEASE$, hairy elbows, @PHENOTYPICFEATURE$, and developmental delay.	false
+7858543ee684e9a5861d72c3a9d6545319a5159b	Wiedemann-Steiner syndrome is a rare @DISEASE$ characterized by short stature, hairy elbows, @PHENOTYPICFEATURE$, and developmental delay.	false
+c3b67438c19f9897e502bf6b5607bf52f559c261	@DISEASE$ is a rare genetic disorder characterized by short stature, hairy elbows, @PHENOTYPICFEATURE$, and developmental delay.	false
+6654c6a1dc0fd4848d2347e0187e2bfb37112dfd	@DISEASE$ (WSS) is characterized by @PHENOTYPICFEATURE$, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability.	has_symptom
+307ff4300a633fcd5a1d2022694d2d245f460fe8	Growth hormone deficiency might be part of the phenotypic spectrum of @DISEASE$ (WSS).Investigation of pituitary function should be undertaken in children with WSS and @PHENOTYPICFEATURE$.	has_symptom
+1c2e91b17cc260d3992b9fd64215dd24135ccea2	@DISEASE$ is a genetic condition associated with dysmorphic facies, hypertrichosis, @PHENOTYPICFEATURE$, developmental delay, and intellectual disability.	has_symptom
+d308bd9f0d9cae407665dd78dae4de15b9c50cae	@DISEASE$ is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and @PHENOTYPICFEATURE$.	false
+0ba69502d1167c539ca47115e889d9dc1c56a3bd	@DISEASE$ is a genetic condition associated with dysmorphic facies, @PHENOTYPICFEATURE$, short stature, developmental delay, and intellectual disability.	false
+ccd11d7d559d6412d5573e311d6b3a5696d22b79	Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, and intellectual disability.	false
+604390909618da6e50a0a433c2981abaa15bc641	Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+1981ee8db3a1a60757b5f67a0a4bb0a109afdd8b	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, and distinct facial features.	has_symptom
+bc7672f429d6b3048be73e12a7614800890e5d43	mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, @DISEASE$, @PHENOTYPICFEATURE$, and distinct facial features.	false
+2de9fc2ae5c7db7e1d097f1833364043589dbfe3	mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital @PHENOTYPICFEATURE$, @DISEASE$, intellectual disability, and distinct facial features.	false
+1447fe05a12d384c6e63a0e6aa7c1923a0b27348	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, @PHENOTYPICFEATURE$, and distinct facial features.	false
+723a91427a723e85bf6f5e02e4756e386dcd8a29	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital @PHENOTYPICFEATURE$, short stature, intellectual disability, and distinct facial features.	false
+fbc31c589ee0158bd235925b99a9cfa931478683	mutations cause Wiedemann-Steiner Syndrome, a very rare @DISEASE$ characterized by congenital hypertrichosis, short stature, @PHENOTYPICFEATURE$, and distinct facial features.	false
+5adbf913aa2443b685b4821e3b17f5b1993ea653	mutations cause Wiedemann-Steiner Syndrome, a very rare @DISEASE$ characterized by congenital @PHENOTYPICFEATURE$, short stature, intellectual disability, and distinct facial features.	false
+5a47695eca6bd13d0b5625daab5a2f5b061ddb25	We identified a cohort of six individuals with hypertrichosis cubiti associated with @PHENOTYPICFEATURE$, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of @DISEASE$ (WSS).	has_symptom
+d464e509cc58e705208ed94ed93b8a2fc59e5230	We identified a cohort of six individuals with @DISEASE$ cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+5b79a4a1f1ff08d57b9c74f9cfe57e12f1ef832a	We identified a cohort of six individuals with hypertrichosis cubiti associated with @DISEASE$, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS).	false
+0c8c49fb9550e78e45d6a2d1ef910d5273e90e5d	We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of @DISEASE$ (WSS).	false
+67c2592bdfc44e1a9ce9dc6dfb0ab69e08ac4560	We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, @PHENOTYPICFEATURE$, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (@DISEASE$).	false
+2935433d75b453e629000c2a5ac3b01e3a563584	Growth hormone deficiency as a cause for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+1025c365e72f493442cb361907af2e7c78749856	KMT2A mutations cause @DISEASE$ (WDSTS), which is characterized by hypertrichosis cubiti, @PHENOTYPICFEATURE$, and distinct facial features in general.	has_symptom
+5cb4a71c8386568cadaf40df6ce85a66caed8a57	@DISEASE$ (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, @PHENOTYPICFEATURE$, and characteristic facies.	has_symptom
+f047b5100ac4590bfe612c13756278eeb3b843d1	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @PHENOTYPICFEATURE$, intellectual disability, developmental delay, and facial dysmorphism.	has_symptom
+d3fbd3c078f9a9202b8cf68fdcb36fb366e1fdd7	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+c9a5cba42850ef063911c142f55550a3fb9c64a3	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+973c29f327d703be35151e8c94007d742de11f05	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+c239ee02d2e9a946232ad48d849600ed59dfc43c	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+efa6f7a871eaf3f7a382a3ce0f8c07bd8ad4f456	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+b955afb2efdec4aaf8a2694c94d68376e3dff277	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, @DISEASE$, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+0fcda20f5c8baa26f9b984da3b6cbf1ec3741431	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, short stature, @PHENOTYPICFEATURE$, developmental delay, and facial dysmorphism.	false
+d92378fbac8e8180a24ffcc840c05f5d4a16922c	Wiedemann-Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by @DISEASE$, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+2f5a417f46f28e729f002154c3831613db4a479a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	has_symptom
+a6b9f3f4263dae1e5165153ce73f5518b9b202b8	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+681ecd599eb0edde0cfb8c67a8fa796199ab8989	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+0c38482562481d2a6251aa0152ccdf08b37a4c21	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @DISEASE$.	false
+3bb6772218898dc1ce941503831e4a1d0a342b71	The former patient showed characteristic clinical manifestations of the @DISEASE$, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+00ef7ed2ea66a20eea504aa013070dc9e024ac7a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+0d706986c973d32d7814f3e6a477a2a205f1bbe0	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @DISEASE$.	false
+9dc4ce72edb969bb0653b26747612d6d6f1b587e	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @DISEASE$.	false
+ac362b69d28007597513e728845ae08e86ddb0dd	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+3853d0a0b39064bc19158cf9980cb35377df738e	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @DISEASE$.	false
+923e142facc1f03f13945c0e3285d7afb228738b	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and @DISEASE$.	false
+628a9821c2462ab1833504a89c119fba7abab3cb	In conclusion, @PHENOTYPICFEATURE$ was documented in 60% of the patients and must be included among the clinical features of @DISEASE$22q11 syndrome.	has_symptom
+d4cb6afcdcac399dd56bbbe92fc6898b5c578604	The aim of this study was to evaluate the prevalence of @PHENOTYPICFEATURE$ in @DISEASE$22q11 syndrome.	has_symptom
+70ba0f2f3f9ba34c71fe15125d3caca4dd18dae3	genetic variations and @DISEASE$ cast @PHENOTYPICFEATURE$.	has_symptom
+d8e8ee2a6475d80b3f0414dc9fb2c753f7ff4e81	We present a case report of a rare simultaneous occurrence of light chain proximal tubulopathy, crystal-storing histiocytosis, and myeloma cast @PHENOTYPICFEATURE$ in a patient with ? light chain @DISEASE$.	has_symptom
+ba1f19de4d683c923d364f8f2c66f6d465824b66	We present a case report of a rare simultaneous occurrence of light chain proximal tubulopathy, crystal-storing histiocytosis, and @DISEASE$ cast @PHENOTYPICFEATURE$ in a patient with ? light chain multiple myeloma.	has_symptom
+b3da964b7f75ad0b986af6726ca78aa8e9696254	@DISEASE$ @PHENOTYPICFEATURE$ is a disorder characterized by deposition of monoclonal immunoglobulin light chains in the kidneys.	has_symptom
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+b7119a398e969bb1ab8f5a7e8bf6596fbcf92156	To the best of our knowledge, this is the first report of simultaneous light chain proximal tubulopathy, crystal-storing histiocytosis, and myeloma cast @PHENOTYPICFEATURE$ in ? light chain @DISEASE$.	has_symptom
+a501b62fd7cbd3896cf3fe29a82fe8a02591d0b6	To the best of our knowledge, this is the first report of simultaneous light chain proximal tubulopathy, crystal-storing histiocytosis, and @DISEASE$ cast @PHENOTYPICFEATURE$ in ? light chain multiple myeloma.	has_symptom
+35cc5f7e0e0eafb3706fc724d96077da5a858c72	The most common entities are light chain amyloidosis, monoclonal immunoglobulin deposition disease and @DISEASE$ cast @PHENOTYPICFEATURE$.	has_symptom
+01525c6559eda1cbe821f04afca230247cd7ef33	Despite minimal clinical symptoms, the patient had developed @DISEASE$ cast @PHENOTYPICFEATURE$ and acute renal failure.	has_symptom
+79321979ed4d65cdcfcb90efde3b074f59ae5bca	We report the case of a 57-year-old woman with Hashimoto's thyroiditis who developed multiple myeloma with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+54b28f4624ab47ae847165a0e448b2d68d0a16e4	@DISEASE$ @PHENOTYPICFEATURE$ is a common complication in patients with myltiple myeloma (MM) that causes high morbidity.	has_symptom
+c0d880370704a31fe892640c2062cf856539c901	Myeloma @PHENOTYPICFEATURE$ is a common complication in patients with myltiple @DISEASE$ (MM) that causes high morbidity.	has_symptom
+5d5c0e7829e84160a04d6c0246b0f1fec228bb12	Use of continuous venovenous hemofiltration for acute renal failure due to @DISEASE$ cast @PHENOTYPICFEATURE$.	has_symptom
+77d09409243d6fbefcd47fda344b74bbbf3a3da8	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	has_symptom
+7092ff51abc164a9a105fdaf31c2959b08caa18e	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild @DISEASE$ had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+1d740519847ee4a4c6f7cf0b9a071b018950a52d	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	false
+c7520343dd6d81f996c3934ec93cc2cbd38a016f	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild @DISEASE$ had a dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).	false
+b03af606f6d21eced3377881500b081b2767d7fc	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a @DISEASE$ (Lhermitte-Duclos disease).	false
+bc69ddac1fc985e89cf390b7fc59856940399db9	Two unrelated patients with @PHENOTYPICFEATURE$, seizures, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+5af7d213aa09393a0011959318fad891d33b95ff	Two unrelated patients with macrocephaly, @PHENOTYPICFEATURE$, and mild cerebellar signs had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+625b7c76f6a718f1ddf82b46696cc3b3cde67996	Pathogenic SLC6A1 variants were recently described in patients with @DISEASE$ (MAE) and @PHENOTYPICFEATURE$ (ID).	has_symptom
+3dd6bf1b1fbebd4ade73870764ec6ef0969ff40a	Mutations in SLC6A1 have been associated mainly with @DISEASE$ (MAE) and @PHENOTYPICFEATURE$.	has_symptom
+d526df15cfcb7fbe9617bcd3d977db1bf7d5dc50	Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with @DISEASE$ (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+93d1ffbba14ddf3ca6ca70f7a7de33541a16671c	@DISEASE$ (CS) is characterized by increased photosensitivity, @PHENOTYPICFEATURE$, and neurological and skeletal abnormalities.	has_symptom
+675862ad5b6bd7e52bfd2cfbe3f5a55be9702432	Cockayne syndrome (CS) is characterized by increased photosensitivity, @DISEASE$, and neurological and @PHENOTYPICFEATURE$.	false
+6bbc8d88e2809ccbe2d3d3e02f474b5ba0245709	@DISEASE$ (CS) is characterized by increased photosensitivity, growth retardation, and neurological and @PHENOTYPICFEATURE$.	false
+a7b6d8c60bdc189c7f01200fef863bffc0516b23	A second diagnostic grouping, comprised of Warburg MICRO syndrome, @DISEASE$, and Cerebral-oculo-facial skeletal syndrome, share similar features of somatic @PHENOTYPICFEATURE$, ophthalmologic, and dysmorphologic features.	has_symptom
+751af4751d0a397fc521eeca82344ffc1667879b	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	has_symptom
+62cf2721b29d877f8533a5670fcb8d3116821274	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by @DISEASE$, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, @PHENOTYPICFEATURE$, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+73333924b23c6e78e17d630c6fcef664144fd8f6	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, @PHENOTYPICFEATURE$, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+53655d48b7bbad6a02eb023c5d5564ade69ddfe8	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, @DISEASE$, @PHENOTYPICFEATURE$, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+81de5d046dbd4459b9d506ca803a190f72eaa4e5	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by @DISEASE$, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, @PHENOTYPICFEATURE$, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+fe8f444095691f0a29a746e5ed131b25f2db02b0	@DISEASE$ (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, @PHENOTYPICFEATURE$, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+ff8ffef53910542577036e8fb3d689cd51085335	Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities.	false
+001fccfb3c451585a8a6a30f99be115bb4300c20	In addition to xeroderma pigmentosum (XP), mutations in the human XPG gene cause an early onset of @DISEASE$ (CS) in some patients (XP-G/CS) with characteristics, such as @PHENOTYPICFEATURE$ and a short life span.	has_symptom
+06a6dd71df293a76faadbf7542ac643ec6f5b8a2	When cardinal features are lacking, the diagnosis of @DISEASE$ should be considered when presented with @PHENOTYPICFEATURE$, microcephaly, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	has_symptom
+d7618ab9f92caad0e68d3150ece0cf00d13cca13	When cardinal features are lacking, the diagnosis of @DISEASE$ should be considered when presented with growth retardation, @PHENOTYPICFEATURE$, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	false
+5aee0dbf0efab2b1cbccc944b4ea976acb79b195	When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with @DISEASE$, @PHENOTYPICFEATURE$, and one of the suggesting features such as enophthalmia, limb ataxia, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	false
+7c5d00e79c6da82d636d1e3f6dfed4988acc2e6c	When cardinal features are lacking, the diagnosis of Cockayne syndrome should be considered when presented with growth retardation, @PHENOTYPICFEATURE$, and one of the suggesting features such as enophthalmia, limb @DISEASE$, abnormal auditory evoked responses, or increased ventricular size on cerebral imaging.	false
+cb7b6fde3f7006ba71245ebd98d7aaf226b40168	@DISEASE$ (CS) is an autosomal recessive disorder, which is associated with abnormal UV hypersensitivity, @PHENOTYPICFEATURE$, and psycho-neural abnormalities.	has_symptom
+b8a129c21a5ab0e6c00f9bde1b4ab6554048e375	@DISEASE$ (CS) is a rare hereditary disease, characterized by profound postnatal brain and somatic @PHENOTYPICFEATURE$ and by the degeneration of multiple tissues resulting in cachexia, dementia, and premature aging.	has_symptom
+42415993a14e8e679004594d6975b5be6401e637	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @PHENOTYPICFEATURE$.	has_symptom
+c85343ebad03ade69e9127b7179cc0fb8b7d735d	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+dbe2143d2bc9805d07bac4088546d9bbf2ea0f5b	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+198df1a04dc764f22d88ab0bd63ca4023fe02562	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @DISEASE$.	false
+7fe53f1a3bee4d1a7a7fe1090e36eb61529af53a	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce39e0ad682d339253435e8222161018c5b7c39d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+c5116bd8ecff26a159e22ff0f3188865b531d0ae	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @DISEASE$.	false
+2ac2a9c39f597da74c00319cb7fabef720db2146	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+59d37012618bf245ae59f8c58b70799cf5de7e60	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @DISEASE$.	false
+500ff6126cd74bd5b9951f1fb877f76cfd360f15	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e577047cfc349c0d037680387ea922ca2bc9559d	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2c971b949d0fa6132b3ab3fd14483bba1e624182	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+c978b8b097d0373c3e734d54b815129f42f7d6b8	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and @DISEASE$.	false
+0e38076c251718c464600bc02f244bb4f84d5007	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+d0e254a92b3c5146f536e87caf3b7d1a7369d6f1	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+5d447e7d250c05996831b8ef6f355d03a1a9e7ae	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and @DISEASE$.	false
+f68e13015fd03a5d1b689bc9b00fc6bb1bee18c0	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+ce3db0aeb99a63fe5b67f738ff7a2e666685718f	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+1d2636a215fee336acfdb1ffc095a31a0f41c09c	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), @PHENOTYPICFEATURE$, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+43bd9f61f1203850f530db9486bc4df7d67ebe29	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and @DISEASE$, cataracts, progeroid features, @PHENOTYPICFEATURE$, hypogonadism, and growth retardation.	false
+11423e1b725843bee7a6e1f499e132da766f38e5	Cockayne syndrome is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and @DISEASE$.	false
+e705e023d42cfbee9431a28f7260a0013159327d	Cockayne syndrome is an @DISEASE$, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, @PHENOTYPICFEATURE$, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+605eda68e75e074ed183d334321e6a5d58bbcb3e	Cockayne syndrome is an @DISEASE$, which includes as major features motor and @PHENOTYPICFEATURE$ (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+0f5523d9a91eeaa1fdf79147ab01d1457f32dc31	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, retinal degeneration and pigmentation, @PHENOTYPICFEATURE$, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+e4039a657fde1aca44cadf380d4b9ed8ca3dbdab	@DISEASE$ is an autosomal recessive disease, which includes as major features motor and mental retardation (beginning in the second year), microcephaly, ataxia, @PHENOTYPICFEATURE$ and pigmentation, cataracts, progeroid features, intracranial calcification, hypogonadism, and growth retardation.	false
+2839d684b53c54377cf28f441baab62f959eb54a	The phenotype of @DISEASE$ (upd(14)mat) is characterized by pre and postnatal growth retardation, @PHENOTYPICFEATURE$, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet.	has_symptom
+eb2aea4671b35d9d403e659e6fb0bf8c01518fe1	@DISEASE$, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, @PHENOTYPICFEATURE$ and markedly short adult stature.	has_symptom
+8f7967b875ec5a653f65153173d901294615964f	Exercise impairment in @DISEASE$ has a strong correlation with the degree of pulmonary artery pressure elevation, and @PHENOTYPICFEATURE$, a hallmark of pulmonary hypertension, strongly correlates with survival.	has_symptom
+1d56a3272312faeeb845ed9125427c3cd8f75382	Patients with @DISEASE$ (IPF) usually develop @PHENOTYPICFEATURE$ and pulmonary hypertension when exercising.	has_symptom
+728e9e8a85d83fc2543eda111d1ce74a71ef2ccb	Patients with @DISEASE$ (IPF) usually develop hypoxemia and pulmonary @PHENOTYPICFEATURE$ when exercising.	false
+4ab86c2d29ec06c49ab9c02447a82a0f32e46af8	Patients with idiopathic pulmonary fibrosis (IPF) usually develop @DISEASE$ and pulmonary @PHENOTYPICFEATURE$ when exercising.	false
+9d7f93968efa37592be22ade6c28de2694615631	The vascular complications in patients with @DISEASE$ are microvascular circulatory disturbances typical of thrombocythemia including erythromelalgia, peripheral ischemia, atypical @PHENOTYPICFEATURE$ attacks, and major arterial and venous thrombotic events.	has_symptom
+6dc637357ec1390a83fcd839830a6e31fa8adff6	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and @DISEASE$ (PV) in 4. Symptoms varied and included @PHENOTYPICFEATURE$ attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even seizures.	has_symptom
+0bf33d4b6b35876d199ef3a5b1aaf6eeaea613a0	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and @DISEASE$ (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even @PHENOTYPICFEATURE$.	false
+b0100f1d2a4ebbe0b8cb3ba287cf2c52c1f3b169	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and @DISEASE$ (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, @PHENOTYPICFEATURE$, syncope or even seizures.	false
+baacd329b6ecad5974029f6aafff60d40cbce86e	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included @DISEASE$ attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even @PHENOTYPICFEATURE$.	false
+baca018c2a6b93763d6901e4c2defcdb1aeadb47	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with @DISEASE$ (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, @PHENOTYPICFEATURE$, syncope or even seizures.	false
+424e3d9d6e6c0f4a228168a368cf74a369f4e094	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with @DISEASE$ (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even @PHENOTYPICFEATURE$.	false
+9094fb5f8d2fe2c56490a8f4522294e4de8677d6	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included @DISEASE$ attacks, mental concentration disturbances followed by throbbing headaches, nausea, @PHENOTYPICFEATURE$, syncope or even seizures.	false
+4724f0ed53d407e0a3e738acd9e0d7f10430ee86	The patients fell into five categories: severe neonatal @PHENOTYPICFEATURE$; @DISEASE$; cardiomyopathy and cataracts; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	has_symptom
+e1bd7fadf6bef8f7c8443c0a21117044558a1efa	The patients fell into five categories: severe neonatal @DISEASE$; Leigh disease; cardiomyopathy and @PHENOTYPICFEATURE$; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	false
+a2fdff78976d19559daa2d5821b7e62e08862ca2	The patients fell into five categories: severe neonatal lactic acidosis; @DISEASE$; cardiomyopathy and @PHENOTYPICFEATURE$; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	false
+fdd74c67ebdda4b42b42c8699ed76f3013356d05	The patients fell into five categories: severe neonatal lactic acidosis; Leigh disease; @DISEASE$ and @PHENOTYPICFEATURE$; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia.	false
+cd9c85efface7f23e901cbfab36485efcf0c68e4	The patient showed @PHENOTYPICFEATURE$, @DISEASE$, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13	has_symptom
+1f761b388dbd66c81865a7fdb9ceb83cb6922dec	The patient showed @DISEASE$, histiocytoid cardiomyopathy, and lactic acidosis but no @PHENOTYPICFEATURE$, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13	false
+b0bf44a41d8c2e7d6b976d37965c0d18565a070c	The patient showed agenesis of the corpus callosum, @DISEASE$, and lactic acidosis but no @PHENOTYPICFEATURE$, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y,inv(X)(p22.13	false
+3c9fd330f4ae26f922a0a6700be90e826f8b036c	We report a case of a 7-week-old boy with bilateral leukocoria and asymmetric @PHENOTYPICFEATURE$ who was found to have @DISEASE$.	has_symptom
+771e4ad036f6d11143ef986b8b651c8499f886db	Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, @DISEASE$, papillorenal syndrome, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and @PHENOTYPICFEATURE$ with coloboma (1 family each).	has_symptom
+3a70d7f66e31aad0b233ca3556df5123b8702328	@DISEASE$ (LSS) is a rare autosomal disorder characterized by polysyndactyly of the hands and feet in a mirror fashion, absence of the radius and tibia with duplicated ulna and fibula, and @PHENOTYPICFEATURE$.	has_symptom
+9b9bb6323941b8f27f1765f8ca70730e15e9233a	We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (@DISEASE$): ocular hypotelorism, @PHENOTYPICFEATURE$, hypospadias (only in the child), and microcephaly.	has_symptom
+6b074dc77f706f54d1fc2f51be212d939248fea9	We describe a father-son Mexican pair with typical features of @DISEASE$ (SRS): ocular hypotelorism, cleft palate, hypospadias (only in the child), and @PHENOTYPICFEATURE$.	false
+faf2f1dc0b673bc45788846677465e2b860dced2	We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (SRS): ocular hypotelorism, @DISEASE$, hypospadias (only in the child), and @PHENOTYPICFEATURE$.	false
+c989a99c22edb6e59a3355e17636905a22ac85c4	We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (@DISEASE$): ocular hypotelorism, cleft palate, hypospadias (only in the child), and @PHENOTYPICFEATURE$.	false
+0cda415577453d96758946053a1d42f90749d25d	We present the case of a child with @DISEASE$ and underline the need for a careful follow-up of these patients to identify signs and symptoms that can have a later onset, such as @PHENOTYPICFEATURE$.	has_symptom
+82662ee5434017a7755f07d729b86f33e7754f1f	A @DISEASE$ has been described, in which the affected individuals have neither @PHENOTYPICFEATURE$ nor the typical neuroradiological findings.	has_symptom
+ce605de9c292f669e8ecb5c9a6be49dbf52160f1	Patients without @PHENOTYPICFEATURE$ and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a @DISEASE$.	has_symptom
+261342774ac29e9a73f14943e277ec8e31f1e470	We administered CXCL1 neutralizing antibody or the antioxidant agent, N-acetylcysteine, to @DISEASE$-deficient mice after UVB irradiation and found significant suppression of blood levels of CXCL1, ear swelling and @PHENOTYPICFEATURE$, the hallmarks of inflammation and neutrophil chemotaxis.	has_symptom
+021c0c669128fe58402bf244ba03b3edd37718ab	Neuronal ceroid lipofuscinosis (NCL, @DISEASE$) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and @PHENOTYPICFEATURE$.	has_symptom
+2adc869213b76476d045bc3aa25e0a28ac9b39c9	Neuronal ceroid lipofuscinosis (NCL, @DISEASE$) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, @PHENOTYPICFEATURE$, and retinal degeneration.	false
+8ff8bf73df1de4a770759ba4949799af9a4acc51	Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+66a9d4129da5fe607411159a6553f977e27e4de8	Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an @DISEASE$ characterized by progressive mental retardation, cortical atrophy, @PHENOTYPICFEATURE$, and retinal degeneration.	false
+d43f0d2fcd33c76b5e386722e1113cebfb525b4d	@PHENOTYPICFEATURE$ and visual impairment are the first signs of @DISEASE$ caused by CLN3 mutations, followed by inevitable progression to blindness.	has_symptom
+3149dd54450ff29d89f74c47748e0e8047a9d89d	Retinal degeneration and @PHENOTYPICFEATURE$ are the first signs of @DISEASE$ caused by CLN3 mutations, followed by inevitable progression to blindness.	false
+da215cb48eac0ad32c12faebe4e181125ff1d216	@DISEASE$ and @PHENOTYPICFEATURE$ are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to blindness.	false
+9dcfeaad52f5af4754e6e4e9eb6dab0bbd187d9a	Retinal degeneration and @PHENOTYPICFEATURE$ are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to @DISEASE$.	false
+a986a2a0ad092bee99334d7572fecf4cfef6216c	The etiology of daytime sleepiness in children and adolescents is diverse and includes inadequate sleep hygiene, obstructive sleep apnea, delayed sleep phase syndrome, @DISEASE$, periodic @PHENOTYPICFEATURE$, narcolepsy, and mood disorders per se.	has_symptom
+93d7c44ed9e37a27048f2a4fc7217abe1f8f2763	The etiology of daytime sleepiness in children and adolescents is diverse and includes inadequate sleep hygiene, @PHENOTYPICFEATURE$, delayed sleep phase syndrome, @DISEASE$, periodic hypersomnia, narcolepsy, and mood disorders per se.	false
+0d2c8d0506c4ba04afb0f5e3498821952a852dd6	The etiology of daytime sleepiness in children and adolescents is diverse and includes inadequate sleep hygiene, @PHENOTYPICFEATURE$, @DISEASE$, idiopathic hypersomnia, periodic hypersomnia, narcolepsy, and mood disorders per se.	false
+5d0c9a1e4d562d1b85d1d031707f4c33398bb481	The etiology of daytime sleepiness in children and adolescents is diverse and includes inadequate sleep hygiene, @PHENOTYPICFEATURE$, delayed sleep phase syndrome, idiopathic hypersomnia, periodic @DISEASE$, narcolepsy, and mood disorders per se.	false
+e16d1ada1799cdcf96d85d795408a3001202f0ec	Relationships between symptoms of hypersomnolence, psychiatric disorders, and @PHENOTYPICFEATURE$ disorders (i.e., narcolepsy and @DISEASE$) are complex and multidirectional.	has_symptom
+f7818ff413fb86e2ec05b0058fe764c995a88f88	The specific disorders addressed by these parameters are narcolepsy (with cataplexy, without cataplexy, due to medical condition and unspecified), @DISEASE$ (with long sleep time and without long sleep time), recurrent hypersomnia and @PHENOTYPICFEATURE$ due to medical condition.	has_symptom
+c48c07ea79d15d2c969d95b5f941152b7df1844d	@DISEASE$ is a rare, central @PHENOTYPICFEATURE$, recently identified and to date of unknown physiopathology.	has_symptom
+374d991934c5748302113eb768ac72add2bfce66	If not, the multiple sleep latency tests make it possible to assess sleepiness (latency<8min) and can lead to a diagnosis of central @PHENOTYPICFEATURE$ (narcolepsy, @DISEASE$, hypersomnia due to a medical pathology).	has_symptom
+fd023028fe29efcba31de5cabdbe3a370676f07f	Upper airway resistance syndrome (UARS) was first used by Guilleminault and colleagues to describe a subgroup of patients with conditions that were formerly diagnosed as @DISEASE$ or CNS @PHENOTYPICFEATURE$.	has_symptom
+28858ad9de79449529c08edaa919c70264f12fb3	26 narcoleptic patients with cataplexy, 9 narcoleptic patients without cataplexy, 2 patients with abnormal REM-sleep-associated @PHENOTYPICFEATURE$, 7 patients with @DISEASE$, 2 patients with post-traumatic hypersomnia, 4 patients with KLS, and 88 patients with other neurological disorders.	has_symptom
+90cf30096ea5d8b930007a748def984435b7dee4	The author goes on to describe different forms of symptomatic and functional hypersomnias, such as @DISEASE$, neurotic @PHENOTYPICFEATURE$, the Pickwickian syndrome" and its variants as well as different varieties of periodic long cycle hypersomnias.	has_symptom
+c839ed7aba109c2906ec68d6e264901ac6c59dea	Similar degrees of reduction were also observed in hypocretin non-deficient narcolepsy and in @DISEASE$, while those in OSAS (non central nervous system @PHENOTYPICFEATURE$) were not altered.	has_symptom
+425b73bd487f587988ce6b4988fc4637941b9ba9	Central hypersomnias includes narcolepsy with and without cataplexy, recurrent hypersomnia, @DISEASE$, with and without long sleep time, behaviorally induced insufficient sleep syndrome, @PHENOTYPICFEATURE$ and narcolepsy due to medical conditions, and finally hypersomnia induced by substance intake.	has_symptom
+d0ea153d7aebb4dbabd8f1683c94e10316d10e34	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or @PHENOTYPICFEATURE$, low-set ears, kyphoscoliosis and joint contractures.	has_symptom
+88d3d185f0e4ca762be9c8251c437ab31f226cb9	The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$ and a high-arched or @DISEASE$, low-set ears, kyphoscoliosis and joint contractures.	false
+d4b8e2017a68c09b530e1d6417e737c1280199d9	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$ and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures.	false
+45cb200d309c96d7268ce6317d1920a8b983021c	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and @PHENOTYPICFEATURE$.	false
+72a809d4b5b189691687ea4bf7df8431e89f8ecd	The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or @DISEASE$, low-set ears, kyphoscoliosis and @PHENOTYPICFEATURE$.	false
+f0097a1f87d82eb3b35342a5ddf980b1cf4cb653	@DISEASE$ (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or @PHENOTYPICFEATURE$, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.	has_symptom
+dcb71047831143ee1683fb0f2a5205f3f8ee4737	@DISEASE$ (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.	false
+85fcb77f0bc9248d937e54a1c6f5d042121f14fa	Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, high-arched or @DISEASE$, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis.	false
+e11bf49e22afcc6a2da932e7477939cc54811eb6	Here, we investigate how the overdose of retinoic acid (RA), which can induce @PHENOTYPICFEATURE$ in mice and humans, regulates histone methyltransferase, @DISEASE$ candidate 1 (WHSC1) during palatal development in mice.	has_symptom
+23e4a97ff501cd4da4a4d077c41f9b5d0d74c3db	@DISEASE$ (OS-CS) is a bone dysplasia characterized by @PHENOTYPICFEATURE$, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	has_symptom
+abc20218d947177887f9908c27d5af3f3f0f056c	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by @DISEASE$, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @PHENOTYPICFEATURE$.	false
+9ab28c9c9879ea7b04e75e43177b9d53cf135d28	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and @PHENOTYPICFEATURE$.	false
+a0148cd4db8449f36fcf7af9306a7b3aef001369	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by @DISEASE$, @PHENOTYPICFEATURE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	false
+9e9b28c543ebdbcf19972ad621c23fb42df39a67	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, @PHENOTYPICFEATURE$, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation.	false
+f8ecafa9a191f4d93d91e3625f3b882406067e15	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by @DISEASE$, macrocephaly, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and mental retardation.	false
+357f290783752e9b94d833544f0bf8f4bce09f43	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and mental retardation.	false
+923f8c5aab563a950d58b36dcb84af6b97268208	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	has_symptom
+d3faa67eca1a921f6dcbaa047b101df8f2c4c170	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+06d2b09fb6554748ebd2445830649fd717ff2a66	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+87f21baa240141cdaa55c754e78606b1aed8333f	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+5b4791caaa266cc8252319ef2d1a539865a6e535	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @DISEASE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+7778657576d5894524a60b9975edc5c1b1319f78	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+a6cf984ac5bfb03124f48467ea0eb9aaef7075b3	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+ecbcd38514568a3147831dcbd6c974bdd28235c3	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+861a6e0b8483b5b89508b31a88042424f8d4ae51	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @DISEASE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+2d9676aaf37ffca657ebfb67d5571d7b70fd418a	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+92400a14492e5aaf86f78a0c1da4c347aced6d30	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @DISEASE$, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+031621ec8740551c058aeb4b03eb7b5664ecf354	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by @DISEASE$, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+922c8e057e15ae4cd8287b3ca316aaf0070e2731	Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, @DISEASE$, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+728fead2cf0fe9de55cb520ee31300172b046da3	@DISEASE$ (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate hyperpigmentation of the skin, @PHENOTYPICFEATURE$, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin.	has_symptom
+acfd5b791733f84f264f10c16a903328b152f0f6	Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate @PHENOTYPICFEATURE$, @DISEASE$, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin.	false
+6862932601af9ebc05e52c6b01154a82d547b94b	@DISEASE$ (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate @PHENOTYPICFEATURE$, palmoplantar keratoderma, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin.	false
+b4c235b3127de574e9ed83cf5a113441c01356ff	@PHENOTYPICFEATURE$, nail dystrophy, and enamel defects are common in @DISEASE$, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis.	has_symptom
+1f8ab773074bce7244f2c4902b9bab1161485ce6	@DISEASE$ (GDHS) is an adult-onset neurodegenerative disorder characterized by ataxia and @PHENOTYPICFEATURE$.	has_symptom
+3c257436a67642b844345f9d21a7e6bc2c32a256	@DISEASE$ (GDHS) is an adult-onset neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism.	false
+cac0568025bd63854072433f11a05db26e05676d	Gordon Holmes syndrome (GDHS) is an adult-onset neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+447fee2b51b69350e739574997fe7d663d6991f0	@DISEASE$ (GHS) is characterized by cerebellar ataxia/atrophy and normosmic @PHENOTYPICFEATURE$ (nHH).	has_symptom
+07e4ce373f026419b028d970bb71e045c587c5fb	@DISEASE$ (GHS) is characterized by @PHENOTYPICFEATURE$/atrophy and normosmic hypogonadotropic hypogonadism (nHH).	false
+763d84ddebcd4d2cb5265840b45756f0ac455ce4	Gordon Holmes syndrome (GHS) is characterized by @PHENOTYPICFEATURE$/atrophy and normosmic @DISEASE$ (nHH).	false
+018e296d84e6b1542671b8fcf8dc051d2351bb8e	We describe a patient with @DISEASE$ presenting with a combination of @PHENOTYPICFEATURE$, ataxia and progressive cognitive decline, with distinct MRI brain findings.	has_symptom
+12b5bc63ba3706a7f466ee3ebe4ba8a10aca3788	We describe a patient with Gordon Holmes syndrome presenting with a combination of @DISEASE$, @PHENOTYPICFEATURE$ and progressive cognitive decline, with distinct MRI brain findings.	false
+a10c67fbd829b65d6ff62562e4a5b13601ea12bc	We describe a patient with @DISEASE$ presenting with a combination of hypogonadotropic hypogonadism, @PHENOTYPICFEATURE$ and progressive cognitive decline, with distinct MRI brain findings.	false
+cbe96792469d3c495bbfbb9598424594bef11f8e	In primary biliary cirrhosis there are @PHENOTYPICFEATURE$, @DISEASE$ fibrosis, elevated cholesterol and alkaline phosphatase levels, defective T lymphocytes and hyperactive B lymphocytes.	has_symptom
+81aeec18ad9ce50d04ace528916091d8ffe45afe	Diagnosis of @DISEASE$ may be difficult because of the variety of clinical and @PHENOTYPICFEATURE$ and manifestations and because the syndrome may mimic infectious, neoplastic, or collagen vascular disorders.	has_symptom
+991505b1b1b5cecf1b0b975533345056abfb6005	@DISEASE$ International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal @PHENOTYPICFEATURE$.	has_symptom
+8959f6271652ae5b07b120eb48a45a78f8f50529	Nutrient intake and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+b44e1cd4f6c7735980c173c27a12714ecb374cab	Women with phenylketonuria (@DISEASE$) are at high risk for having offspring with mental retardation, microcephaly, @PHENOTYPICFEATURE$ and low birth weight.	has_symptom
+a6ddce78a601fc2bca8407cd0d653ed37b46c211	Women with @DISEASE$ (PKU) are at high risk for having offspring with mental retardation, microcephaly, @PHENOTYPICFEATURE$ and low birth weight.	has_symptom
+9cd153325bb1062c801b3c638feb119dd86a76be	Women with phenylketonuria (PKU) are at high risk for having offspring with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$ and low birth weight.	false
+dcb1fe6f5219401d7931f17e00e9bbd241d81dfe	Women with phenylketonuria (@DISEASE$) are at high risk for having offspring with @PHENOTYPICFEATURE$, microcephaly, heart defects and low birth weight.	false
+95ec8044ffad6e44ecf9d2d79c6183d6cbbf7a92	Women with phenylketonuria (PKU) are at high risk for having offspring with mental retardation, @PHENOTYPICFEATURE$, @DISEASE$ and low birth weight.	false
+ebad9d5a8e868b10e5f02830500287f798892a9a	Women with @DISEASE$ (PKU) are at high risk for having offspring with @PHENOTYPICFEATURE$, microcephaly, heart defects and low birth weight.	false
+e97af4792147bff961e717a612aa2680dc15918f	Women with phenylketonuria (@DISEASE$) are at high risk for having offspring with mental retardation, @PHENOTYPICFEATURE$, heart defects and low birth weight.	false
+2daaf4c7a052c8732569dfbc12d12d00dde34ffc	Women with @DISEASE$ (PKU) are at high risk for having offspring with mental retardation, @PHENOTYPICFEATURE$, heart defects and low birth weight.	false
+f4869f5c9fc2da86c7610bd710ddcd89c19b75e8	Young women with phenylketonuria (@DISEASE$) are at risk for bearing children with mental retardation, microcephaly, @PHENOTYPICFEATURE$, and low birthweight.	has_symptom
+90d8d5f0fd39e5861dc7f81b73f8f8fa0fce351c	Young women with @DISEASE$ (PKU) are at risk for bearing children with mental retardation, microcephaly, @PHENOTYPICFEATURE$, and low birthweight.	has_symptom
+daa62d2e9b5280010b3e5f7977c0d5d9c4730361	Young women with phenylketonuria (@DISEASE$) are at risk for bearing children with mental retardation, @PHENOTYPICFEATURE$, heart defects, and low birthweight.	false
+d48579b69e76ddcaee78d09b4f84860574a79e75	Young women with @DISEASE$ (PKU) are at risk for bearing children with mental retardation, @PHENOTYPICFEATURE$, heart defects, and low birthweight.	false
+35336e2be178eca24b2cc39a5d62bc8f7920353c	Young women with phenylketonuria (@DISEASE$) are at risk for bearing children with @PHENOTYPICFEATURE$, microcephaly, heart defects, and low birthweight.	false
+9df02b60934ddb30eb2316088dc0b8e6ac962500	Young women with @DISEASE$ (PKU) are at risk for bearing children with @PHENOTYPICFEATURE$, microcephaly, heart defects, and low birthweight.	false
+2cc1d3cf49c32d370221c8a3a656a2aeff1f264f	Young women with phenylketonuria (PKU) are at risk for bearing children with mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and low birthweight.	false
+700c77e9fc627a8c7a4c6fcbe8cf1c1fd2a76718	Young women with phenylketonuria (PKU) are at risk for bearing children with @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, and low birthweight.	false
+242b59625675f7581907efc67f3f7bd2595cdf44	Babies born to untreated mothers with @DISEASE$ are at risk for being small for gestational age with microcephaly, mental retardation and @PHENOTYPICFEATURE$.	has_symptom
+b6b09ba279c829dd4caad094aa52980f9f164023	Babies born to untreated mothers with PKU are at risk for being small for gestational age with microcephaly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d119de2bf69210fee1f900ea6abe6566494ce875	Babies born to untreated mothers with PKU are at risk for being small for gestational age with @PHENOTYPICFEATURE$, mental retardation and @DISEASE$.	false
+01900f111fa6df605bc4bb4627e379b476a9c3cd	Babies born to untreated mothers with @DISEASE$ are at risk for being small for gestational age with @PHENOTYPICFEATURE$, mental retardation and congenital heart defects.	false
+d97a871d9a2f60a929aa24b441e8f1e252caf68b	Babies born to untreated mothers with @DISEASE$ are at risk for being small for gestational age with microcephaly, @PHENOTYPICFEATURE$ and congenital heart defects.	false
+f337615921ab91a18c35376439299851df32de47	The offspring of mothers with untreated or poorly controlled phenylketonuria (@DISEASE$) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, @PHENOTYPICFEATURE$ and developmental delay (Rouse et al 1997).	has_symptom
+1877381e6fdeb47edb1ed30bab35750330e580a4	The offspring of mothers with untreated or poorly controlled @DISEASE$ (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, @PHENOTYPICFEATURE$ and developmental delay (Rouse et al 1997).	has_symptom
+96025b85a9db7ee77cdc86082fa72de12b23c45c	The offspring of mothers with untreated or poorly controlled @DISEASE$ (PKU) (McKusick 261600) are at risk of having congenital anomalies including @PHENOTYPICFEATURE$, congenital heart defects and developmental delay (Rouse et al 1997).	false
+246c5e2fd7a0e4586286bd9d4e3a9bc452fc1e07	The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having @DISEASE$ including @PHENOTYPICFEATURE$, congenital heart defects and developmental delay (Rouse et al 1997).	false
+e4f9e117a8a7759fbd64866975d8e3b3dfac5e22	The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including @PHENOTYPICFEATURE$, @DISEASE$ and developmental delay (Rouse et al 1997).	false
+7355e6a084c1725b303a9ab2dedb68b4c9e32cfc	The offspring of mothers with untreated or poorly controlled phenylketonuria (@DISEASE$) (McKusick 261600) are at risk of having congenital anomalies including @PHENOTYPICFEATURE$, congenital heart defects and developmental delay (Rouse et al 1997).	false
+9c0fcdce02f47dd81f21711fed5433d6719d014b	A cohort of women with @DISEASE$ (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on @PHENOTYPICFEATURE$ (CHDs), microcephaly, and development of their offspring.	has_symptom
+9082146758cac2d0e004d6566d45902ae1973b9a	A cohort of women with phenylketonuria (@DISEASE$) were selected to explore the impact of phenylalanine (Phe) levels and other factors on @PHENOTYPICFEATURE$ (CHDs), microcephaly, and development of their offspring.	has_symptom
+2a7f46aaa7db10aef2dcdd0ee1937778d2c2479b	A cohort of women with phenylketonuria (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on @DISEASE$ (CHDs), @PHENOTYPICFEATURE$, and development of their offspring.	false
+50bdddb16be3f4c6c026a27e3c852ac268dd790e	A cohort of women with @DISEASE$ (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), @PHENOTYPICFEATURE$, and development of their offspring.	false
+638298d7529db8d5959a62cbe019deb165837050	A cohort of women with phenylketonuria (@DISEASE$) were selected to explore the impact of phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), @PHENOTYPICFEATURE$, and development of their offspring.	false
+44d08f432f2dfe52f97fc7e6efb75241c00f2909	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	has_symptom
+76a8e1323e81e27ea0116d978c5a29bb92f3d181	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, microcephaly and @PHENOTYPICFEATURE$ in nonphenylketonuric offspring.	has_symptom
+10988bf313cb781f5b998f80d0604342db04c929	@DISEASE$ (PKU) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	false
+18ca8fff3c92213b9e5b21e88a7565dcae584836	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and congenital heart defects in nonphenylketonuric offspring.	false
+b6c429257386e8df8f86f97ce70c90301ecf2847	Maternal phenylketonuria (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and @DISEASE$ in nonphenylketonuric offspring.	false
+0233993280beb9c776bdfba98307f46308d1349b	Maternal phenylketonuria (@DISEASE$) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+5e9dbbd38f904762953ec9db7940c8f90eb94b0c	Maternal phenylketonuria (PKU) is associated with significant complications such as mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$ in nonphenylketonuric offspring.	false
+6c7ed7db4a302d4831161e1d4a2c44cbc3b23b7e	@DISEASE$ (PKU) is associated with significant complications such as @PHENOTYPICFEATURE$, microcephaly and congenital heart defects in nonphenylketonuric offspring.	false
+7b277427bdde7b67b85a1c69ecda2c0a145c367a	@DISEASE$ syndrome: @PHENOTYPICFEATURE$, microcephaly, and developmental outcomes.	has_symptom
+b0b01531284dd5ff0571c9b49c576c612adf5dd6	Maternal phenylketonuria @DISEASE$: congenital heart defects, @PHENOTYPICFEATURE$, and developmental outcomes.	false
+80ef5fb0277943692cb6399fad1e9f6780aa0aed	@DISEASE$ syndrome: congenital heart defects, @PHENOTYPICFEATURE$, and developmental outcomes.	false
+e8cda10982d0d17e0ccc5023808278f5fa7829f2	Maternal phenylketonuria syndrome: @DISEASE$, @PHENOTYPICFEATURE$, and developmental outcomes.	false
+476fc0c3a15e3f7041750a409cc4abe5157cd5d4	@DISEASE$ (MPKU) is known to affect fetal outcome, often being associated with microcephaly and @PHENOTYPICFEATURE$ (CHD) if the maternal diet is not appropriately managed.	has_symptom
+5b2ba30d6f8341363a0b29bc5ff7b33febc8baa2	Maternal phenylketonuria (MPKU) is known to affect fetal outcome, often being associated with @PHENOTYPICFEATURE$ and @DISEASE$ (CHD) if the maternal diet is not appropriately managed.	false
+9a9c5297e3000d6f649944c857624d843bc49afe	Maternal phenylketonuria (MPKU) is known to affect fetal outcome, often being associated with @PHENOTYPICFEATURE$ and congenital heart defects (@DISEASE$) if the maternal diet is not appropriately managed.	false
+fb47fd35508d6e396fca39e07611a9e4ee995654	@DISEASE$ (MPKU) is known to affect fetal outcome, often being associated with @PHENOTYPICFEATURE$ and congenital heart defects (CHD) if the maternal diet is not appropriately managed.	false
+9ea59d41df3dbd1b867738a9be9f1ffe15402b17	In the group with @DISEASE$ was completely @PHENOTYPICFEATURE$ free, one had reduction of seizures for 75%, one did not respond.	has_symptom
+216263ee711423d86b3b27119862be53ab8cf6a0	In the group with @DISEASE$ was completely seizure free, one had reduction of @PHENOTYPICFEATURE$ for 75%, one did not respond.	has_symptom
+e82e9870579fc2556c8830c5f02f41fb9c300335	Infantile-type @DISEASE$ is a multiorgan disorder presenting with cardiomyopathy, hypotonia, and @PHENOTYPICFEATURE$, which is usually fatal.	has_symptom
+1e5c0dd7ff56d6744d869a210ff70c6e959c1476	In infants, @DISEASE$ is characterized by prominent hypotonia, @PHENOTYPICFEATURE$, motor delay, feeding problems, and respiratory and cardiac insufficiency.	has_symptom
+ab8ff2338018135b8426eb078cd38c05fa55d8a3	Mucopolysaccharidosis (MPS) causes aortic and valvular disease, @DISEASE$ causes cardiac @PHENOTYPICFEATURE$, and Fabry disease causes left ventricular hypertrophy.	has_symptom
+4fb8b71bc824652e8d4881a5c84e03ea9fa53a0d	Number of lymphocytes containing PAS-positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or @PHENOTYPICFEATURE$, 13 genetically confirmed late-onset-@DISEASE$ (LOPD) and 13 of their offspring.	has_symptom
+ea8acaae844a1f2f6f57371db14031307f44d45b	Pompe disease or @DISEASE$ (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce @PHENOTYPICFEATURE$, gait abnormalities, or even death by respiratory failure.	has_symptom
+5c7ffeae30c4f5c224433face584f6768298a360	@DISEASE$ or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce @PHENOTYPICFEATURE$, gait abnormalities, or even death by respiratory failure.	has_symptom
+c50b87119196bc794afdbebbaf72e1abda1cb124	Pompe disease or @DISEASE$ (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+c424be9139b34d5e1a82af3d243b6674a3be8248	@DISEASE$ or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+4dfcda18b959c9205ceb7ba58b92e4451952cb18	Pompe disease or glycogen storage disease type II (OMIM: 232300) is a @DISEASE$ resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+af54ea0ac1527926d3968b20ca5f439f62303e9c	Pompe disease or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce @DISEASE$, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+97953de0f9bf8f40ac17b4663363384dbfe995c5	Late-onset @DISEASE$ (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and @PHENOTYPICFEATURE$, with often a limb-girdle pattern.	has_symptom
+ecc347929f6b27c2ea5aaea83509995f130dd6a1	We delineated the specific clinical features of @DISEASE$ in adults, and mapped out the distribution and severity of @PHENOTYPICFEATURE$, and the sequence of involvement of the individual muscle groups.	has_symptom
+6b167a4afe16af8b86b3a4d7b01d9ff12e149c1f	We reported a case of @DISEASE$ in the temporal horn of lateral ventricle in a female child who presented with the uncommon symptoms of sudden intraventricular hemorrhage and multiple episodes of @PHENOTYPICFEATURE$ without symptoms of raised intracranial tension.	has_symptom
+52942e0d58338f8f933e29b56e274225a28a0fc2	A pigmented @DISEASE$ was found in the left lateral ventricle of a 15-year-old white boy with a 10-year history of @PHENOTYPICFEATURE$.	has_symptom
+59f7a8f86aaedb906012f58119331abb6a927280	@DISEASE$ (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal @PHENOTYPICFEATURE$.	has_symptom
+641c8a094b7a718d96cb6e1be10c5b108e7e2d9b	Beckwith Wiedemann syndrome (@DISEASE$) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal @PHENOTYPICFEATURE$.	has_symptom
+ea2352207bef8cde40134b0771a5b697e416e54f	Beckwith Wiedemann syndrome (@DISEASE$) is a rare, congenital @PHENOTYPICFEATURE$ disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal hypoglycaemia.	false
+4ebdfe0296d17a811653d5aac6a9b733bc07cdc0	@DISEASE$ (BWS) is a rare, congenital @PHENOTYPICFEATURE$ disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal hypoglycaemia.	false
+2091a7fd1d72b854af6dbfd18bc25f3bc6f1cfe0	Beckwith Wiedemann syndrome (BWS) is a rare, congenital @PHENOTYPICFEATURE$ disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism, and neonatal @DISEASE$.	false
+8b1e16ac6035f4f4c87818cf8a8605cc099c7ed5	@DISEASE$ (BWS) is a rare congenital overgrowth disorder variably characterized by macrosomia, macroglossia, congenital @PHENOTYPICFEATURE$, and hemihyperplasia.	has_symptom
+3c0ff1ecf3b477be2fe7ada28af2ce6df007584e	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare congenital overgrowth disorder variably characterized by macrosomia, macroglossia, congenital @PHENOTYPICFEATURE$, and hemihyperplasia.	has_symptom
+60970621fd4e0ca14fe172f4737ae73eb0866a85	Beckwith-Wiedemann syndrome (BWS) is a rare congenital @PHENOTYPICFEATURE$ disorder variably characterized by macrosomia, macroglossia, congenital @DISEASE$, and hemihyperplasia.	false
+b8ac672afd5ce8b27e014851ac46402f8f7abda1	@DISEASE$ (BWS) is a rare congenital @PHENOTYPICFEATURE$ disorder variably characterized by macrosomia, macroglossia, congenital hypoglycemia, and hemihyperplasia.	false
+4eb0d53c7fa8aa867b6e5efb9c7651311c24529e	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare congenital @PHENOTYPICFEATURE$ disorder variably characterized by macrosomia, macroglossia, congenital hypoglycemia, and hemihyperplasia.	false
+70eeaefea87544ba159ce33543a3f95a19feb960	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal @PHENOTYPICFEATURE$, lateralised overgrowth and predisposition to embryonal tumours.	has_symptom
+7923824d914ff253320c2624141b2eb5633e782f	@DISEASE$ (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal @PHENOTYPICFEATURE$, lateralised overgrowth and predisposition to embryonal tumours.	has_symptom
+739f8a4ae15dd792d57f0b0f1b667a281f7beef2	Beckwith-Wiedemann syndrome (BWS) is a rare congenital @PHENOTYPICFEATURE$ disorder characterised by macroglossia, abdominal wall defects, neonatal @DISEASE$, lateralised overgrowth and predisposition to embryonal tumours.	false
+3d829ccff9b7eb25ceac5b6a94d90020292b86db	@DISEASE$ (BWS) is a rare congenital @PHENOTYPICFEATURE$ disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours.	false
+eb0833b3dff0de174c4a66f2e58ae17cc94d9d2a	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal @PHENOTYPICFEATURE$.	false
+334fb0154cc1521a9e2669bfeb2289d05e51a245	Beckwith-Wiedemann syndrome (@DISEASE$) is a rare congenital @PHENOTYPICFEATURE$ disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours.	false
+0e56da1914dc8cb7f5d9f3133ef02b9ba84f8898	@DISEASE$ (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal @PHENOTYPICFEATURE$.	false
+ec6ee1ef6bfd5fe23698375778b34af3fcf9d138	Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal @DISEASE$, lateralised overgrowth and predisposition to embryonal @PHENOTYPICFEATURE$.	false
+7b9025e97c1476e71da3ba988c95b59facbc0714	Congenital hyperinsulinism and @DISEASE$ both lead to beta islet hyperplasia and neonatal @PHENOTYPICFEATURE$.	has_symptom
+f438bf1ad676d6db2c07218b8db724f59a01d860	Beckwith-Wiedemann syndrome (@DISEASE$), a disorder associated with neonatal @PHENOTYPICFEATURE$, increased growth potential, and predisposition to Wilms's tumour (WT) and other malignancies, has been mapped to 11p15.	has_symptom
+30e7fef39940d25c609f867dd1b10b703061852d	@DISEASE$ (BWS), a disorder associated with neonatal @PHENOTYPICFEATURE$, increased growth potential, and predisposition to Wilms's tumour (WT) and other malignancies, has been mapped to 11p15.	has_symptom
+8f7108b37a9fd6909cdce6f999ce81703455fb0c	Beckwith-Wiedemann syndrome (BWS), a disorder associated with neonatal @DISEASE$, increased growth potential, and predisposition to Wilms's @PHENOTYPICFEATURE$ (WT) and other malignancies, has been mapped to 11p15.	false
+2749ac159e6d0442ab5e88ddde0bbd8434ee129e	@DISEASE$ (BWS), a disorder associated with neonatal hypoglycaemia, increased growth potential, and predisposition to Wilms's @PHENOTYPICFEATURE$ (WT) and other malignancies, has been mapped to 11p15.	false
+355f74df35c13e8e32bbf24c86ff20f1a1ba48f7	Beckwith-Wiedemann syndrome (@DISEASE$), a disorder associated with neonatal hypoglycaemia, increased growth potential, and predisposition to Wilms's @PHENOTYPICFEATURE$ (WT) and other malignancies, has been mapped to 11p15.	false
+3365ff05cdbe263b290719fdc77c577af73a2f86	Beckwith-Wiedemann syndrome (BWS), a disorder associated with neonatal hypoglycaemia, increased growth potential, and predisposition to @DISEASE$'s @PHENOTYPICFEATURE$ (WT) and other malignancies, has been mapped to 11p15.	false
+e816c7fbeb755331f0997866f68b823e94ab521e	@DISEASE$ (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, @PHENOTYPICFEATURE$, hemihyperplasia, and organomegaly.	has_symptom
+fab773834415eafa2cbb25ec98c61bf0073f2983	Beckwith-Wiedemann syndrome (@DISEASE$) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, @PHENOTYPICFEATURE$, hemihyperplasia, and organomegaly.	has_symptom
+1b63ec6b5160af0827bbd58eae95e3920769e025	Beckwith-Wiedemann syndrome (BWS) is characterized by @DISEASE$ predisposition, @PHENOTYPICFEATURE$ and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly.	false
+da827d5cec520d503e51dc1d75e6253b3d617bd5	Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, @PHENOTYPICFEATURE$ and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, @DISEASE$, hemihyperplasia, and organomegaly.	false
+57551a6a3a4cb371590205fbfcb99d3f63aaa2a9	Beckwith-Wiedemann syndrome (@DISEASE$) is characterized by cancer predisposition, @PHENOTYPICFEATURE$ and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly.	false
+7c741b034d4198622dac60605859e318f7776e4c	@DISEASE$ (BWS) is characterized by cancer predisposition, @PHENOTYPICFEATURE$ and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly.	false
+023605e5713d6661d35957121c583d379fdfbc4e	Individuals were considered to have @DISEASE$ if they had two of five major features: macroglossia, macrosomia, @PHENOTYPICFEATURE$ at birth, abdominal wall defect, and ear pits or creases.	has_symptom
+28234dfbd09886baeb77f6cc4779df36558359c5	The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, @PHENOTYPICFEATURE$ and atresia of the pulmonary artery, leading to the diagnosis of @DISEASE$.	has_symptom
+0b6eaff181e9b6f31f7eeffd1a1497f1382abdd7	Our analysis allows to correlate @DISEASE$ symptoms, like a protruding tongue, indented ears and transient neonatal @PHENOTYPICFEATURE$, to an abnormal methylation at the KvDMR1.	has_symptom
+d3b6e7a3822692da33cdf9e25564bad035d5ff42	Beckwith-Wiedemann syndrome (@DISEASE$), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal @PHENOTYPICFEATURE$, lateralized overgrowth and predisposition to embryonal tumours.	has_symptom
+4e1ecc7f686093f3783d014e217374eabae885ba	@DISEASE$ (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal @PHENOTYPICFEATURE$, lateralized overgrowth and predisposition to embryonal tumours.	has_symptom
+2f86b5ba95df5180e8edd051849ade9457467ec6	@DISEASE$ (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include @PHENOTYPICFEATURE$, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours.	false
+320c8c52115c36dfd19a3d5b703ddf96ec2934d8	Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include @PHENOTYPICFEATURE$, macroglossia, abdominal wall defects, neonatal @DISEASE$, lateralized overgrowth and predisposition to embryonal tumours.	false
+e8ce9d506b5c476032d1bb6e6a71f6a51a5813c5	@DISEASE$ (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal @PHENOTYPICFEATURE$.	false
+1fbe8f103f23242186d3b6ecc4f9c5d687c15834	Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal @DISEASE$, lateralized overgrowth and predisposition to embryonal @PHENOTYPICFEATURE$.	false
+f7690b171679ba02a4d9c61760b15a0e558e20ec	Beckwith-Wiedemann syndrome (@DISEASE$), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal @PHENOTYPICFEATURE$.	false
+ea562b1b46418abbc23f77b4f6f89d7cd94b672f	Beckwith-Wiedemann syndrome (@DISEASE$), a human genomic imprinting disorder, is characterized by phenotypic variability that might include @PHENOTYPICFEATURE$, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours.	false
+8f94931ad8cd993fcc4b91cbc6ab4753d4a7bd56	@DISEASE$ @PHENOTYPICFEATURE$ in Nepal.	has_symptom
+545358b0b7a16892f7d25f3c483277b185356bcd	We present here three @DISEASE$ patients of these age groups, who manifested @PHENOTYPICFEATURE$, mutism or psychosis.	has_symptom
+3888d42982aa55a59356dceda7c226d7b1f9d5f9	Use of prophylactic antibiotics was not independently associated with @DISEASE$, neither was sex, body mass index (BMI), surgical priority, @PHENOTYPICFEATURE$, or comorbid conditions.	has_symptom
+739bb62e2d8a7de877f366d40de3935308beb42e	The role of @PHENOTYPICFEATURE$ in the fatal outcome of @DISEASE$: Early onset morbid obesity in a patient with a MAGEL2 mutation.	has_symptom
+5aeda67413cd01983d24dcd7c1bafa4945ad944e	These diseases include systemic sclerosis, primary and secondary Raynaud's phenomenon, pulmonary @PHENOTYPICFEATURE$, Buerger's disease, and @DISEASE$.	has_symptom
+36cbc92fe0ea7a43db9cd52f883358f8c6693c2a	Hypoperfusive and @PHENOTYPICFEATURE$ ocular manifestations in @DISEASE$.	has_symptom
+2eb4beac48993ca00c70d124196b9d702a0d3785	Only large vessel vasculitis is associated with pulmonary @PHENOTYPICFEATURE$; primary forms include @DISEASE$ and giant cell arteritis.	has_symptom
+724e6e19f7718158a6e47646bcd45ff804cda022	@DISEASE$ syndrome is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower limb shortening and gastrointestinal, genitourinary and @PHENOTYPICFEATURE$.	has_symptom
+f9115a1a832a9b46b4393b4a77f1970332a13b2b	Caudal regression syndrome is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower @PHENOTYPICFEATURE$ and gastrointestinal, genitourinary and @DISEASE$.	false
+70c7b9e3b8ee859f706733ce9351f3e0db913d3a	@DISEASE$ syndrome is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower @PHENOTYPICFEATURE$ and gastrointestinal, genitourinary and cardiovascular abnormalities.	false
+e6f428cdcfb1a16c2a21bff73eb6fa8d7fa7f161	Caudal regression @DISEASE$ is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower @PHENOTYPICFEATURE$ and gastrointestinal, genitourinary and cardiovascular abnormalities.	false
+a68ee522a867cd7b5527619d9e8f1a403cc3b731	Caudal regression syndrome is a rare @DISEASE$ associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower @PHENOTYPICFEATURE$ and gastrointestinal, genitourinary and cardiovascular abnormalities.	false
+5f905b3620ea6267122c96ff8dfa2e6702c51481	@DISEASE$ (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, intellectual impairment, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and @PHENOTYPICFEATURE$.	has_symptom
+b6ffbc3c5c6cceff0ffcc3430c34283f95ae38e0	@DISEASE$ (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, @PHENOTYPICFEATURE$, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and hypotrichosis.	false
+1bcb04bee0276208e00ee3f32dd7365c31121c0e	Costello syndrome (CS; OMIM 218040) is caused by heterozygous germline mutations of HRAS (OMIM 190020).We report on a patient with sporadic CS presenting with characteristic craniofacial dysmorphism, congenital cardiopulmonary disorders, @PHENOTYPICFEATURE$, and skin abnormalities manifesting as loose redundant skin of the hands and feet, acanthosis nigricans, multiple naevi and @DISEASE$.	false
+1d43447b2f60512f01c4d1f7cee782b61f0bb8b4	An immunological study was performed in a 16-year-old boy affected with Papillon-Lef?vre syndrome (@DISEASE$) and recurrent staphylococcal @PHENOTYPICFEATURE$.	has_symptom
+0391a34d0f15930119a39345da068a625867b7e5	Lesions in the epithelially expressed human gene FRAS1 cause @DISEASE$, a complex disease with variable symptoms, including facial deformities and @PHENOTYPICFEATURE$.	has_symptom
+05a204acee8d1810e465df8f359f62b2ee983652	Female of 17 years-old with @DISEASE$: port-wine stain, overgrowth of bone and soft tissue in limbs, dental malposition and @PHENOTYPICFEATURE$.	has_symptom
+f7f12fc05e3286647bdf40a4d77c81aa94e60b6b	A case of systemic @DISEASE$ infection with @PHENOTYPICFEATURE$ formation in the meninges.	has_symptom
+846edda28d9da60b9770c35f4943f8ad55a0938e	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, microcephaly, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	has_symptom
+506cc1326bda8627f6a656a0ed22a6fec6a00c9b	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, ptosis and @PHENOTYPICFEATURE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	has_symptom
+449ebb25773b4ef5a076680c4ffaad89ba69a522	All five patients displayed the classical features of @DISEASE$ (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+1a905cb8178c6edbca48ce539b364b1526c5749d	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+5ec368ee4d656cf39275a0c7bc69a00940d49a18	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+a6a8ed767ae91728badd01756f3e188b8867203d	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and @DISEASE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+7d799ec141532442a4c680d114028789e69475ae	All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and @DISEASE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+22b680371f647e50034e07451775b8ff34eb3b7b	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and @DISEASE$) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+b4d5e982a15c75c58e0dbaf47b26db7b915e0e4f	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, microcephaly, @PHENOTYPICFEATURE$ and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+9b0bf07dc048de966219878b40dfdfde4d4fd3dc	All five patients displayed the classical features of @DISEASE$ (mental retardation, growth retardation, @PHENOTYPICFEATURE$, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+0aa417e6ea79f4ae6cdf2d39d2b4fbf52d19bc15	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+ac362b69d28007597513e728845ae08e86ddb0dd	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	has_symptom
+a6b9f3f4263dae1e5165153ce73f5518b9b202b8	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+34760dcc52bdc8cd37576f778c79345669b97881	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, @DISEASE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+681ecd599eb0edde0cfb8c67a8fa796199ab8989	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+8f4ad70a23d9420645b4ea62f8ab973ddb5f773e	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @DISEASE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+2630a5502234da08aae6fe2f3a036bc903ffbaca	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @DISEASE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+3bb6772218898dc1ce941503831e4a1d0a342b71	The former patient showed characteristic clinical manifestations of the @DISEASE$, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+00ef7ed2ea66a20eea504aa013070dc9e024ac7a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+60bfcec5612d7eb31a3312d17df2b83bcabc4beb	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @DISEASE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+35507e6580e3edf31a318d21af76fe3748105973	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @DISEASE$, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	false
+2f5a417f46f28e729f002154c3831613db4a479a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	false
+e4e85734b9c254bea7f9afdff486f99050c717bd	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	has_symptom
+dcbeec5e40ea31adc6049da1f1f6d9725cb2d7d9	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and @DISEASE$.	false
+e79504fdabac5d596f3f5562c84eeb48d6d56f63	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+717c1b7643751612d87ce8c17ceaab5b69eb3151	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and micrognathia.	false
+66e61bcc8e0c8322f9de03f5ef3d4fac7e663f11	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and micrognathia.	false
+674ea7c6364130c63e67c2ce883a5068bf7667f6	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	false
+996dd49498234fc2443a1f19de3838d14ec47bda	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and micrognathia.	false
+3d40ad84ffd9dfdf1e709a138a93b4e038ab1fbc	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, ptosis, and @PHENOTYPICFEATURE$.	has_symptom
+4ac226a2bdf1eb22193ab283303f03a442fce041	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and micrognathia.	false
+6befd7b25512f302c74685826d5c62054b85fefe	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and micrognathia.	false
+10573e40c38969f1146328554ac416b5f8a760b9	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and @DISEASE$.	false
+5646dd9d43bf40400f547ac5bdff6e7b5f6384e4	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, mental retardation, telecanthus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9768d8fef28a945bd785ea5cc158682c6e19e091	Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and micrognathia.	false
+76994c9d26cdb0e7fec61c0e05a17dee9e1b5ada	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and micrognathia.	false
+abd576dd113567356830a5cfde129ed9baa104c9	Waardenburg-Shah syndrome (@DISEASE$-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, @PHENOTYPICFEATURE$, and Hirschsprung disease (HSCR).	has_symptom
+82ab71cf8fcd014f263c98d66a7ec8f1885746eb	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, @PHENOTYPICFEATURE$, and mild hypotonia, posing diagnostic challenges.	has_symptom
+d1685e7a9e57be3b6de28438fd19f650f985df1a	A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare @PHENOTYPICFEATURE$, @DISEASE$, and mild hypotonia, posing diagnostic challenges.	false
+890f83308b58bcabab477bcc155698baab26b02e	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with @PHENOTYPICFEATURE$, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.	false
+b1b1c7aef05e1a32a7d5969b59a4210d20e7d81f	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare @PHENOTYPICFEATURE$, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.	false
+3cb3e805a52e6fce6fedcd56d3939d01279c25b8	A case with GAMT deficiency (homozygous c.64dupG mutation) presented with @PHENOTYPICFEATURE$, rare seizures, @DISEASE$, and mild hypotonia, posing diagnostic challenges.	false
+bd2e986ad5f4a69f8486e1d5c3e86fee98aef024	Report of 2 cases of @DISEASE$. Description of the well known symptoms: Mental and somatic retardation, broad thumbs and toes, highly arched palate, @PHENOTYPICFEATURE$, fine hair on limbs.	has_symptom
+9e3e6a9a020fea6d317701522ccc9b1c0dee9467	In humans, congenital malformations of the vertebral column include scoliosis, kyphosis, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+5f961023889bc08bb79619431280b8ed6ab2cbd1	An unusual association of @DISEASE$ and other abnormalities (Sprengel's deformity, 1st cervical and 1st dorsal @PHENOTYPICFEATURE$, homovertebral bone, scoliosis, plagiocephaly, basilar impression, pterygium colli, nanism, hypogenitalism, etc.) together with neurological signs of amyotrophic lateral sclerosis, in a 36-yr-old woman is reported.	has_symptom
+d73ed31cdeff004911fc6222d20f0356246b5bbd	We describe a case of prenatal diagnosis of a @DISEASE$ with Dandy-Walker malformation, and @PHENOTYPICFEATURE$, proved by ultrasound examination.	has_symptom
+23331b23cc0beb6656499ad260d808cbdf3144b0	The congenital, developmental, and disease processes discussed include spear tackler's spine, congenital and developmental stenosis, @DISEASE$, odontoid abnormalities, rheumatoid arthritis, @PHENOTYPICFEATURE$, and Arnold-Chiari malformations.	has_symptom
+731a41ecf1583cce210a314129b1b9088d85e644	Association of @DISEASE$, Dandy-Walker malformation, @PHENOTYPICFEATURE$: A case report.	has_symptom
+7c8544846922ae0c1428870c7586da4e74c72af1	A rare case of @DISEASE$ associated with atlantoaxial rotatory subluxation, atlanto-occipital fusion, and @PHENOTYPICFEATURE$.	has_symptom
+089663d110ba8a3041b536e74639a6e7716955f2	The three types of @DISEASE$ are discussed, together with the particular alterations observed in the present case: Sprengel's deformity, @PHENOTYPICFEATURE$, craniostenosis, basilar impression, etc.	has_symptom
+111d5fac59bc19c1124920910b450ff7c6a395a2	Targeted disruption of exons 1 to 6 of the @DISEASE$ group A gene leads to growth retardation, strain-specific @PHENOTYPICFEATURE$, meiotic defects and primordial germ cell hypoplasia.	has_symptom
+7bf46270667faec822b86fef05ccd526858718a2	Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to @PHENOTYPICFEATURE$, strain-specific @DISEASE$, meiotic defects and primordial germ cell hypoplasia.	false
+ee71c41df889267eb0e7d0fcf14562f35aef6107	Targeted disruption of exons 1 to 6 of the @DISEASE$ group A gene leads to @PHENOTYPICFEATURE$, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.	false
+7b0fd4f9a2cb28673489dce5ceb04a109adc49c8	@DISEASE$ (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including @PHENOTYPICFEATURE$, microcephaly, hypoplastic radius and thumb.	has_symptom
+816dee8ed25360138fd19f1a8c95f92d6a207ec1	Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and @DISEASE$, and developmental anomalies including microphthalmia, @PHENOTYPICFEATURE$, hypoplastic radius and thumb.	false
+71b6f69882a110f24bfb355eb20d8c711b1e0fe1	@DISEASE$ (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including microphthalmia, @PHENOTYPICFEATURE$, hypoplastic radius and thumb.	false
+447a863174828877ca04d134429ba5a623c24964	Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including @DISEASE$, @PHENOTYPICFEATURE$, hypoplastic radius and thumb.	false
+98fb0f4a3b1b14a0220afb26fe1d668e77fd5763	Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high @DISEASE$ risks, and infertility, and developmental anomalies including microphthalmia, @PHENOTYPICFEATURE$, hypoplastic radius and thumb.	false
+a5e04f937ffca620892a8f02bbaa63bec30dc388	Sympathetic stimulation plays an important role in the genesis of QT(U) prolongation and @PHENOTYPICFEATURE$ in @DISEASE$ (LQTS).	has_symptom
+1b5be93afe7c67999d39749fe997c757eda3e2f2	@DISEASE$ (cLQTS) is a @PHENOTYPICFEATURE$ that is characterised by a prolonged QT interval on the surface electro-cardiogram (ECG).	has_symptom
+326846688979736dbea39bc3574cbb39f54cc9de	@DISEASE$ (cLQTS) is a genetic disorder predisposing to @PHENOTYPICFEATURE$, syncope and sudden death.	has_symptom
+1559fc32817a3f2907aadb6430e429a2c71eb545	The @DISEASE$ is characterized by a prolonged QT interval on the electrocardiogram, @PHENOTYPICFEATURE$, and sudden death.	has_symptom
+cf9f284e4022f9630192a49ad48b4386bad63d4c	Clinically close to the @DISEASE$, this primary @PHENOTYPICFEATURE$ must be looked for in cases of stress or emotion-induced syncope.	has_symptom
+2f029459d5ed29d590c3071ad93067508e30d3d8	69 patients who underwent extensive neck surgery, without @DISEASE$, medications known to prolong the QT interval, preoperative @PHENOTYPICFEATURE$, or electrolyte abnormalities.	has_symptom
+108547cf3984b03b62a20030f1b235a422c506f2	@DISEASE$ (LQTS) is associated to an increased risk of @PHENOTYPICFEATURE$, syncope and sudden cardiac death (SD).	has_symptom
+ef9fcd16f0613e7f55c692c288faa4758b051d31	The @DISEASE$ (cLQTS) is characterized by @PHENOTYPICFEATURE$, syncope and sudden cardiac death.	has_symptom
+122f37107a875e3c29b8d3bf3c068a9fa2fc032e	Fever-induced QTc prolongation and @PHENOTYPICFEATURE$ in individuals with type 2 @DISEASE$.	has_symptom
+b10bdd880b4cbc9eb6086521faed79de7d1ef215	Patients with @DISEASE$ (LQTS) are at increased risk of @PHENOTYPICFEATURE$, particularly during labour and the puerperium.	has_symptom
+0747cc822856ed56876bbc4714356d3e587e30cb	Darier's disease, @PHENOTYPICFEATURE$, Oudtshoorn disease, @DISEASE$, 'badpak' ichthyosis, epidermolytic hyperkeratosis, the 'half-baby' syndrome, exfoliative dermatitis, hair dystrophy and selected precancerous conditions.	has_symptom
+69ee322dcccd56c92208338f7d9fe60032205b7a	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including @PHENOTYPICFEATURE$, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects.	has_symptom
+20ee92c994859e580d960e405599d4ae97443f27	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including @DISEASE$, epilepsy, mental retardation and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+1e32d80fdd0644c647e6ae66981499f376a2e311	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including @DISEASE$, epilepsy, @PHENOTYPICFEATURE$ and intracranial calcifications in addition to the classical scalp and limb defects.	false
+40a04718a72eca807e789b558c13a58e0895c68e	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, @PHENOTYPICFEATURE$ and intracranial calcifications in addition to the classical scalp and limb defects.	false
+f66b444823bece93df8c1adbdcac9130a4fbc01e	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely @DISEASE$ central nervous system anomalies including microcephaly, epilepsy, @PHENOTYPICFEATURE$ and intracranial calcifications in addition to the classical scalp and limb defects.	false
+cda463f34dfe0f49b306e0284892d0328496afde	We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely @DISEASE$ central nervous system anomalies including microcephaly, epilepsy, mental retardation and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+8e14f457e24d596010427507d3f7433e9c2d7a43	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+5c28a91e8affc56c54e344fda1dacb788a9c9572	A case of @DISEASE$ associated with acrania, @PHENOTYPICFEATURE$, hemiplegia, epilepsy, and mental retardation.	has_symptom
+1fb41971cd0b8b61f8517200c3a0954d53c39b73	A case of Adams-Oliver syndrome associated with acrania, @DISEASE$, hemiplegia, epilepsy, and @PHENOTYPICFEATURE$.	false
+00f1232ff27bfaeeb5b407a2db14c74b7cce8983	A case of @DISEASE$ associated with acrania, microcephaly, hemiplegia, epilepsy, and @PHENOTYPICFEATURE$.	false
+a54a3845070c3c5f73c350d9cfbd9400f546c70f	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, @PHENOTYPICFEATURE$, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	has_symptom
+759fb829292b5c5a209ce6fd1f1911e5e0ca314b	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, @DISEASE$, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+80e0abd412a686fea4dddfce8dbf9fba86aec021	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+55c6808fe74f7164709d4b92121b45cc139d9857	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+f52cd64836a5606facbb09efca14c33a13d0ff50	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, @DISEASE$, epilepsy, mental retardation, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	false
+e336ae7556a8ba78ef6380e8f2957c9e59807f75	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, mental retardation, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	false
+32aba66edde852a3e87d6ddf48f980ca8435496b	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including @DISEASE$, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+063a79c4d5f13cf644769446c7aefbe371d12729	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, @PHENOTYPICFEATURE$, anatomic bronchial anomalies, and renal anomalies.	false
+8dd76063125e9031985310cd9addad6da9918f1d	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+c7ce8679ab5edf9229503ba0e68e258fcd194d92	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of Adams Oliver syndrome also presenting with additional anomalies including congenital heart disease, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and renal anomalies.	false
+319fbc9f3c5801fd3ff50d5fc9c2f9881b2da536	Our report reinforces that @DISEASE$ is compatible with life, and that mild @PHENOTYPICFEATURE$ and amelogenesis imperfecta are key features of the attenuated form.	has_symptom
+a5cd0e2a7277f013095e3d0418e5050aa1770e9f	@DISEASE$ is the most common form of combined deafness and @PHENOTYPICFEATURE$.	has_symptom
+7d1eb66c67aaed30843e1e29a88482f23cdc9f3f	Usher syndrome is the most common form of combined @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b39f8425fd6cb2158c8b75bf7e68947730de5c70	@DISEASE$ is the most common form of combined @PHENOTYPICFEATURE$ and blindness.	false
+01b71a1fc178d4b6165a9d0fb0a8a8d953f46192	@DISEASE$ (USH) combines sensorineural deafness with @PHENOTYPICFEATURE$.	has_symptom
+50eaacf416510e3bb894085c1787f11b18c34f0f	@DISEASE$ (USH) combines @PHENOTYPICFEATURE$ with blindness.	false
+48fe90a908bbdbe24e4aabb10b033df3f9fadc92	Usher syndrome (USH) combines @PHENOTYPICFEATURE$ with @DISEASE$.	false
+befc3ea7d12bda12a9865ebb307ecc57ef1fb588	@DISEASE$ is the most common form of deaf-@PHENOTYPICFEATURE$.	has_symptom
+a940951bfb2d42b58bc8a886763f48e89e9a1ba5	Usher syndrome is the most common form of @PHENOTYPICFEATURE$-@DISEASE$.	false
+8fd1125d1f045a8ba0ce5b169ef30e090a485531	@DISEASE$ is the most common form of @PHENOTYPICFEATURE$-blindness.	false
+4e3b23706a1286d99ddbb064cd7d8d2e37bd0f02	@DISEASE$ (USH) is the most common cause for deaf-@PHENOTYPICFEATURE$.	has_symptom
+3e0ae64cc80dd4b694401f0f27b60f6948e9a574	@DISEASE$ (USH) is the most common cause for @PHENOTYPICFEATURE$-blindness.	false
+34fbe7d66bb1eac5788b2de73c8613e11b3f12c8	Usher syndrome (USH) is the most common cause for @PHENOTYPICFEATURE$-@DISEASE$.	false
+c54bcf0de2e950fdb750328438eeb659b1e8c73b	@DISEASE$ (USH) is the most common form of deaf-@PHENOTYPICFEATURE$ in humans.	has_symptom
+6b1b4dabd26853158fbd809167a9f529f6997b8b	@DISEASE$ (USH) is the most common form of @PHENOTYPICFEATURE$-blindness in humans.	false
+90c37d786c3ecafe9e38179c98cdd16fff00b405	Usher syndrome (USH) is the most common form of @PHENOTYPICFEATURE$-@DISEASE$ in humans.	false
+5e940e4a42b28bc8478ad6d575a849b10a421c8a	In @DISEASE$, deafness is congenital and @PHENOTYPICFEATURE$ is acquired.	has_symptom
+387d12cecf873d8787df72df9b08d2e1eb68f24e	In Usher syndrome, @PHENOTYPICFEATURE$ is congenital and @DISEASE$ is acquired.	false
+149ca25091eaed5dd47a2bd9cc15ce24643ef9b7	In @DISEASE$, @PHENOTYPICFEATURE$ is congenital and blindness is acquired.	false
+09aa45159003b988931c6ea412c0152a6902b648	@DISEASE$ is a deafness-@PHENOTYPICFEATURE$ disorder.	has_symptom
+f6454c74f8917144fd9f82166103fa24c3d50e96	@DISEASE$ is a @PHENOTYPICFEATURE$-blindness disorder.	false
+b9b59c49d937aed1f37b57eb4ba6aae99aabe3c6	Usher syndrome is a @PHENOTYPICFEATURE$-@DISEASE$ disorder.	false
+3b81a439d5dbfb63bc8a9fefede6f405a7109c9f	@DISEASE$ is a deaf-@PHENOTYPICFEATURE$ disorder.	has_symptom
+f6454c74f8917144fd9f82166103fa24c3d50e96	@DISEASE$ is a @PHENOTYPICFEATURE$-blindness disorder.	false
+b9b59c49d937aed1f37b57eb4ba6aae99aabe3c6	Usher syndrome is a @PHENOTYPICFEATURE$-@DISEASE$ disorder.	false
+a5623e5b1fe900cec09e57ba56648c1ad02f40d3	@DISEASE$ (USH) is the most common disease causing combined deafness and @PHENOTYPICFEATURE$.	has_symptom
+1559f41a727ce94654ad686ae31a817532830507	@DISEASE$ (USH) is the most common disease causing combined @PHENOTYPICFEATURE$ and blindness.	false
+8c7b73d7a13f8ce72abfd5637e241898601bef22	Usher syndrome (USH) is the most common disease causing combined @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fb4026e88ba42fe27c2c5a22a1562e226e5d0c7b	Human @DISEASE$ is the most common form of combined deafness and @PHENOTYPICFEATURE$.	has_symptom
+7a6601cc4b23306b4eb53b520d03c683f97e944f	Human @DISEASE$ is the most common form of combined @PHENOTYPICFEATURE$ and blindness.	false
+b58f3afd233dc5cf47bec33350c2d87d6662f57d	Human Usher syndrome is the most common form of combined @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dca197211b19cf210bc159d0654161cae5b8f3d0	@PHENOTYPICFEATURE$ was present in 34% of 345 patients with @DISEASE$.	has_symptom
+dc8acc3f8e17086391bf43df20a74f301276c6aa	Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with @PHENOTYPICFEATURE$, which is one of the main clinical signs in both @DISEASE$ and chromosome 10q23 deletion syndromes.	has_symptom
+3045eb5cf4d329c9747a572974ec71e4df7b37a8	We reason that, even in the absence of @DISEASE$, sequencing and copy number analysis of BMPR1A should be considered in patients with (atrioventricular) septal defects, especially when associated with @PHENOTYPICFEATURE$ and anomalous growth.	has_symptom
+dc9c3fedb18b685f1e62beca9efce7479f80ed3c	Baraitser-Winter syndrome (@DISEASE$, type 3) is a rare developmental disorder typified by @PHENOTYPICFEATURE$, ptosis, high-arched eyebrows, ocular coloboma, and brain malformations.	has_symptom
+18ed978bce3e570b88d7413c60c8f0236807dc8a	Baraitser-Winter syndrome (@DISEASE$, type 3) is a rare developmental disorder typified by hypertelorism, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+48c79105117496620b3631f9fdd126373ac36306	Baraitser-Winter syndrome (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by @DISEASE$, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+44e216ed36f29f2b4001ce75c982b77771172703	@DISEASE$ (cerebrofrontofacial syndrome, type 3) is a rare developmental disorder typified by hypertelorism, @PHENOTYPICFEATURE$, high-arched eyebrows, ocular coloboma, and brain malformations.	false
+b0b641f11c3990e95ae521323eb8b75107f86d7e	@DISEASE$ is an autosomal recessive disease presenting with microcephalic dwarfism, @PHENOTYPICFEATURE$ and facial and skeletal abnormalities.	has_symptom
+02ad57773acdd8ff184df87f2c5e14c34adb9eee	@DISEASE$ is an autosomal recessive disease presenting with microcephalic dwarfism, mental retardation and facial and @PHENOTYPICFEATURE$.	false
+acdc87cc772929f49fc8aace7ba266b8e78a5ceb	Seckel syndrome is an autosomal recessive disease presenting with microcephalic dwarfism, @DISEASE$ and facial and @PHENOTYPICFEATURE$.	false
+9bf351fe65e3a6fcaa81fcb0dcb404fd28bd806a	Seckel syndrome is an autosomal recessive disease presenting with microcephalic dwarfism, mental retardation and @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0cb63d392e8fe3bb0a2e6e8789fffb9c5c436266	Seckel syndrome is an @DISEASE$ presenting with microcephalic dwarfism, mental retardation and facial and @PHENOTYPICFEATURE$.	false
+00d6749f30c39597d204909f14adc62de958a6b7	In discrepancy to the @DISEASE$ both children showed no signs of @PHENOTYPICFEATURE$, therefore the classification into the heterogeneous group of microcephalic osteodysplastic primordial dwarfism (MOPD) is the most likely diagnosis.	has_symptom
+009bb6464ab519ebab067894e1e31dd9b5789540	@DISEASE$ is a rare autosomal recessive disorder and its characteristic features are marked growth and @PHENOTYPICFEATURE$, significant microcephaly and a convex nose.	has_symptom
+b6f0dcaf22612c24e1bee92a3c0218873886a642	@DISEASE$ is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant @PHENOTYPICFEATURE$ and a convex nose.	false
+c108f576b1da9551393a0e81bee48422cd5a9f4b	Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and @DISEASE$, significant @PHENOTYPICFEATURE$ and a convex nose.	false
+42351b3f9d0f7ddde0e9e0162e94582cad773c4d	@DISEASE$ is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, @PHENOTYPICFEATURE$, and characteristic facial features.	has_symptom
+8e74086e84a2bce15022b1337ae0d0e0080c1724	@DISEASE$ is a heterogeneous, autosomal recessive disorder marked by prenatal @PHENOTYPICFEATURE$, severe microcephaly, intellectual disability, and characteristic facial features.	false
+352a8bb6a4de1d689560319e122262b67f6068f6	Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal @PHENOTYPICFEATURE$, severe microcephaly, @DISEASE$, and characteristic facial features.	false
+375b75a191e38d2e6cf1772541f20bcb0b251fbe	Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe @PHENOTYPICFEATURE$, @DISEASE$, and characteristic facial features.	false
+b4cfda62a0ad2b16ee84ae3c2c46feda7c15f5cf	@DISEASE$ is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe @PHENOTYPICFEATURE$, intellectual disability, and characteristic facial features.	false
+f08df1aa8ddac96c06312a3c1b09bd8eb327e4a1	ATR has been identified as a candidate gene for @DISEASE$, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and @PHENOTYPICFEATURE$.	has_symptom
+c8a8e90b1cad702fc1a3e4894f658461a251c58d	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b13054ad989fb57b9e800591a11f16852d2ca1e3	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive @DISEASE$ that comprises growth retardation, @PHENOTYPICFEATURE$, and mental retardation.	false
+979fcd19a53a505a4484a6f0955b2c8886f3c6c3	ATR has been identified as a candidate gene for @DISEASE$, an autosomal recessive syndrome that comprises @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+995afa32a8686eebc37a0ab590562be3e7bb52cb	ATR has been identified as a candidate gene for @DISEASE$, an autosomal recessive syndrome that comprises growth retardation, @PHENOTYPICFEATURE$, and mental retardation.	false
+0d4ad0de4cb77027ce1cf9f8cf4f012eb15a88db	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+dc78a522e1a0bff0f87c3a006ae7c59976f210dd	ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive @DISEASE$ that comprises @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+103c038615c26c1cddac9436c1389c1ffc3cb354	@DISEASE$ (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and @PHENOTYPICFEATURE$.	has_symptom
+ef75d3d131c9452bd9ed243b429d37076f4f623a	@DISEASE$ (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, @PHENOTYPICFEATURE$ and mental retardation.	false
+4f610f1c552d88a2f38b0c833914675e8ce372a5	Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c1cb7c9a4817b55372bc74232b4ccbc8b07ec4d1	Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by @DISEASE$, dwarfism, @PHENOTYPICFEATURE$ and mental retardation.	false
+6b32d0e9b7044720b24964f1bf1d9fbbb9096648	The patients with @DISEASE$ are characterized by growth retardation, microcephaly with @PHENOTYPICFEATURE$, proportional dwarfism, bird like faces, and beak-like triangular nose.	has_symptom
+44aec4fc7d8a9bd4d968da3de18f07d8d9c23817	The patients with Seckel syndrome are characterized by growth retardation, @PHENOTYPICFEATURE$ with @DISEASE$, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+6e270c2159130f199836c93c86b213da41d79817	The patients with Seckel syndrome are characterized by @PHENOTYPICFEATURE$, microcephaly with @DISEASE$, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+71427e2dd9527ff9b5294058856fd249b577f32c	The patients with @DISEASE$ are characterized by @PHENOTYPICFEATURE$, microcephaly with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+b67d9a8e31011217f082ac8eac4d14a35371b345	The patients with @DISEASE$ are characterized by growth retardation, @PHENOTYPICFEATURE$ with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose.	false
+6b0ef501a811bee2ed59313c6ffa8458ea82b990	The @DISEASE$ or "bird-headed" dwarfism associates a severe short stature, @PHENOTYPICFEATURE$ and various malformations with characteristic facial appearance.	has_symptom
+f13a35ec3eaa12df6fde4c9a5b6bc295711d02c3	The @DISEASE$ or "bird-headed" dwarfism associates a @PHENOTYPICFEATURE$, mental deficiency and various malformations with characteristic facial appearance.	false
+17fa8a73e2954e4bbdd45c066bab71016a2fbf88	The Seckel syndrome or "bird-headed" dwarfism associates a @PHENOTYPICFEATURE$, @DISEASE$ and various malformations with characteristic facial appearance.	false
+fd84656cc958c744256ff259e3ae02ad1196aa86	@DISEASE$ is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and @PHENOTYPICFEATURE$.	has_symptom
+ba0973c9cc356942d933f091a1c5bccc4373c907	@DISEASE$ is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, @PHENOTYPICFEATURE$ and mental retardation.	false
+8630a16450a7d73bf6f5d4786d42cbaf3b5e3cd2	Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cca9342ff1d5e1fd5903502dbddd7481d8914db9	Seckel syndrome is a rare autosomal recessive disorder characterized by @DISEASE$, dwarfism, @PHENOTYPICFEATURE$ and mental retardation.	false
+772d19fe31af27b78110175ab880d67bfc89a8bd	In the present communication we report on a family with three children affected by @DISEASE$ with @PHENOTYPICFEATURE$, microcephaly, micrognathia and severe growth deficiency.	has_symptom
+82abeb777be046c73058feec8c45a73e715e5ae3	In the present communication we report on a family with three children affected by Seckel-syndrome with @DISEASE$, @PHENOTYPICFEATURE$, micrognathia and severe growth deficiency.	false
+21f445cce0cd02b989db3f6326c8662b05022de1	In the present communication we report on a family with three children affected by Seckel-syndrome with @DISEASE$, microcephaly, @PHENOTYPICFEATURE$ and severe growth deficiency.	false
+24bb524922e13f31c6dd725bfa322532a0becccd	In the present communication we report on a family with three children affected by @DISEASE$ with mental deficiency, @PHENOTYPICFEATURE$, micrognathia and severe growth deficiency.	false
+23f60a9d78829aadce35bb46c2d98cf338288c06	In the present communication we report on a family with three children affected by @DISEASE$ with mental deficiency, microcephaly, @PHENOTYPICFEATURE$ and severe growth deficiency.	false
+e206c07500dc7f2dc4eff2fcda3c9767b642610a	A 23-year-old male with clinically diagnosed @DISEASE$ had bilateral cataracts, @PHENOTYPICFEATURE$, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis.	has_symptom
+9cb4c4db5622826d78a699f51e9bbd8d0cea6d8b	A 23-year-old male with clinically diagnosed @DISEASE$ had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and @PHENOTYPICFEATURE$, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis.	false
+e43931533ea3b5df7c73dcbcb142f8bd54362dd9	A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral @PHENOTYPICFEATURE$, @DISEASE$, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis.	false
+8382805df258f9dfd15fc72ceb887494e5fd0d04	A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, @DISEASE$, pendulous nystagmus, severe mental and @PHENOTYPICFEATURE$, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis.	false
+d94f335c3873eca1b619b8492f013978f1d0d07d	A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and @PHENOTYPICFEATURE$, hypotonia, areflexia, joints hyperextensibility, @DISEASE$, aminoaciduria, and metabolic acidosis.	false
+c92f56666d5c3a79e8e99ce36e66508070c7ebe7	A 23-year-old male with clinically diagnosed @DISEASE$ had bilateral @PHENOTYPICFEATURE$, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis.	false
+ac7026baf392aa16c90a7c42cf686828deca83e2	A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral @PHENOTYPICFEATURE$, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, @DISEASE$, aminoaciduria, and metabolic acidosis.	false
+0d982e247312465e264581e5b0df4b177e3bb0b5	@DISEASE$ (AKV) of Hopf is an @PHENOTYPICFEATURE$ genodermatosis with unknown etiology.	has_symptom
+fe5b1cbc751e6af846b112ecb71e50c2a1c39baa	This case reinforces that early onset @DISEASE$ should be considered in a baby presenting with @PHENOTYPICFEATURE$, gastrointestinal symptoms and hepatosplenomegaly.	has_symptom
+b4d85292230f851da0bef59fd6443ea944e1a611	In early onset @DISEASE$, clinical manifestations start in the first few weeks of life with persistent vomiting, @PHENOTYPICFEATURE$, hepatosplenomegaly, liver dysfunction and hepatic failure.	has_symptom
+4544939d32a585f3808c0fc8be19e068f0cb723d	A 5-year-old boy with @PHENOTYPICFEATURE$ and spastic quadriplegia accompanied by tonic seizures and hyperammonemia was diagnosed as having @DISEASE$ due to an arginase deficiency in his erythrocytes.	has_symptom
+3544d098574e053dfa890623e34bd5f7784544b5	A 5-year-old boy with @PHENOTYPICFEATURE$ and spastic quadriplegia accompanied by tonic seizures and hyperammonemia was diagnosed as having argininemia due to an @DISEASE$ in his erythrocytes.	has_symptom
+34a04dd9240669d9c9e1a2cbd0f3f4359706da44	Controls were matched for sex, age, @PHENOTYPICFEATURE$, and adaptive functioning and compared with @DISEASE$ patients on three standardized measures of adaptive/maladaptive behaviors.	has_symptom
+ea54b82cc9083ce9df65806c3a384ef7feb357e5	@DISEASE$ (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and @PHENOTYPICFEATURE$.	has_symptom
+b3c4e27c13165ba2d3ba59107774ad5b6c207ba4	One patient had @DISEASE$; one, Pfeiffer's syndrome; and one, @PHENOTYPICFEATURE$, ulnar hypoplasia, and joint laxity.	has_symptom
+a38d429bac66d362fa43774d64b47fc4378021c7	@DISEASE$ (FAS), the strongest manifestation of FASD, results in @PHENOTYPICFEATURE$, microcephally and facial dysmorphogenesis including microphthalmia.	has_symptom
+c19e1a22404773c2d6b63f57c2e3340f6f369445	Fetal Alcohol Syndrome (FAS), the strongest manifestation of FASD, results in @DISEASE$, microcephally and facial dysmorphogenesis including @PHENOTYPICFEATURE$.	false
+72d0dad32a1b6f2ef205e65620312ebcebdb9b67	@DISEASE$ (FAS), the strongest manifestation of FASD, results in short stature, microcephally and facial dysmorphogenesis including @PHENOTYPICFEATURE$.	false
+50d80c167ad7e69b942a0de8fc8a4ea146cc2d8a	A 53-year-old male was diagnosed with @DISEASE$ in March 2014, followed by @PHENOTYPICFEATURE$, splenomegaly and anemia in July 2014.	has_symptom
+7f78c790d1776418304e7087a25160147519794a	Important conditions predisposing to hypernatremia include diarrhea, vomiting, heat stroke, @PHENOTYPICFEATURE$, limited access to water, excessive diuretic use, renal diseases, and @DISEASE$.	has_symptom
+82d4e3dfcc1063a7c36664fc138843fce007ca1a	Important conditions predisposing to hypernatremia include @DISEASE$, @PHENOTYPICFEATURE$, heat stroke, fever, limited access to water, excessive diuretic use, renal diseases, and pituitary diabetes insipidus.	false
+c99abbc42e369b700d31188006e9665f948b686f	Important conditions predisposing to hypernatremia include diarrhea, @PHENOTYPICFEATURE$, heat stroke, @DISEASE$, limited access to water, excessive diuretic use, renal diseases, and pituitary diabetes insipidus.	false
+18759f529130bd279998dd6f07c2f0d1b9481e73	Important conditions predisposing to hypernatremia include diarrhea, @PHENOTYPICFEATURE$, heat stroke, fever, limited access to water, excessive diuretic use, @DISEASE$, and pituitary diabetes insipidus.	false
+756d952a75d87a3ee7daeeedf2c84d90076ab1da	Important conditions predisposing to hypernatremia include diarrhea, @PHENOTYPICFEATURE$, heat stroke, fever, limited access to water, excessive diuretic use, renal diseases, and @DISEASE$.	false
+90adbd6b73df658eceaf18b4ac2bb36b16433b72	We describe a female patient who presented with @PHENOTYPICFEATURE$ and polyuria and was shown to have idiopathic partial @DISEASE$.	has_symptom
+42d9eccf6990c71ca8b377fc20d9785fc3d69b10	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @PHENOTYPICFEATURE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	has_symptom
+899516cc9011d29cef359c7b224eaf348042ced0	B?rjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, @DISEASE$, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+efb8eb4c21e56bf0cda421dab17b4d75f5368773	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+53bc6dc5c9ed5c4ad12691aaee8827a94ada6098	B?rjeson-Forssman-Lehmann syndrome (@DISEASE$; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+146c3f39367f8112c32d30feb877df8f97c91494	B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, @PHENOTYPICFEATURE$ with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+e523522e5261b462cfc6d09de2ea503e63b077b3	B?rjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+94feff2ae40fb90e3db91c231266d2fa388bf80b	B?rjeson-Forssman-Lehmann @DISEASE$ (BFLS; OMIM 301900) is characterized by moderate to @PHENOTYPICFEATURE$, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.	false
+a224f1a1bcfb20a688323d71c8dafc86381d4e45	Two of the patients showed renal lesions of advanced @DISEASE$, but one had membranoproliferative glomerulopathy, suggesting that the "syndrome" of early onset nephrotic syndrome progressing to renal insufficiency, @PHENOTYPICFEATURE$, and exaggerated left atrial atheromatosis, of which association we have not found a specific report, is etiologically heterogeneous.	has_symptom
+2d70db06563b3f8189b3c1f0f5cadd089f2a8c89	We conclude that the hyperlipidemic Imai rat, a naturally occurring animal model of FGS, is useful in studying the pathogenesis of @DISEASE$ and the renal effects of @PHENOTYPICFEATURE$ in humans.	has_symptom
+ead982917f74907b7ed05232b60f45d6c2d965b5	We conclude that the hyperlipidemic Imai rat, a naturally occurring animal model of @DISEASE$, is useful in studying the pathogenesis of FGS and the renal effects of @PHENOTYPICFEATURE$ in humans.	has_symptom
+44fd1ea17858cba9be39f821c6b8a2f57a6643af	At 3 months after the beginning of the experiment, @DISEASE$ lesions, marked proteinuria and @PHENOTYPICFEATURE$ were observed.	has_symptom
+5026517e5040aadfb6d86bdf10e3442346909ccc	In five patients with @DISEASE$ with @PHENOTYPICFEATURE$ without edema, all component levels were normal.	has_symptom
+378e54940b7033476d1e806a3404668170c45c34	In five patients with @DISEASE$ with hypoalbuminemia without @PHENOTYPICFEATURE$, all component levels were normal.	false
+0de5755e690fab2a558a4a61ec92253ee88b7883	In five patients with FGS with @DISEASE$ without @PHENOTYPICFEATURE$, all component levels were normal.	false
+c2ba37413b6fa3e442c88d21a47e83f129b538e7	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	has_symptom
+e25a82265af5de6472fa85284d5c995cc9b32bb4	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+69fb925c49f6bdc0ac00caa6c31aeb8be510d1d4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+795f53474d4a2584dd949b544c08d3d7e80fa755	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d073e4e1273d1c719d1bd9ad7b7c1ba72d02fc6c	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6c0b5253534648cafad296fe0c97f1870dd7d1a9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cfd88b24a9293f70c83dd6dfdb528dbc425b5bb7	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @DISEASE$, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+8ddd3de61688b5b9ac4dd116cd72c0d4df66ebe2	There was a wide range of clinical associations including agenesis of the corpus callosum, @DISEASE$, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e03d2e9f036864b184a0b0609bedae3ce668408e	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+38894498d312c83e97b443413ed72eee0fc4af86	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+5e1818eb96b64a9a2fe12e8efac5b09f2242fe4f	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+4f798dcac0cf695c2cdf76111da336bb2d81b6ae	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+cb8caa8c097e0c4f6abc09c938a1d0b301246bb9	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, @DISEASE$, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+bcd0bf01e766ee5738d4df0bdc40b9c3b5676621	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile @DISEASE$, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+7eb1aa45ead211f37bba9d3b46057ac8d440669c	New genes identified included EXOC8 in @DISEASE$ and GFM2 in a patient with @PHENOTYPICFEATURE$, simplified gyral pattern, and insulin-dependent diabetes.	has_symptom
+268d0aa59a618f04945a6cbcfe655386f9519372	We first demonstrated this utility with UGET using genetically heterogeneous disorders such as @DISEASE$, @PHENOTYPICFEATURE$, neuropsychiatric disorders and type 2 limb girdle muscular dystrophy (LGMD2) and then compared UGET to other gene expression based prioritization programs which use small but discrete and well annotated datasets.	has_symptom
+0ba671ea1dee6eed126489f6c10c02537d94a387	The relationship of @DISEASE$ and @PHENOTYPICFEATURE$ has long been the subject of debate.	has_symptom
+cc18bafcf532d01205d51520f3b5daa1d591fcd2	Of 10 children with macrocephaly in association with @DISEASE$ only two children had progressive @PHENOTYPICFEATURE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+67a7ba91c41b30ab148b008c385d0684ae128c7d	Endoscopic third ventriculostomy in @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+dee535fb82e09395493ee24e4506756a2b28a689	@DISEASE$ represents @PHENOTYPICFEATURE$ or medullary compression caused by narrowed foramen magnum, which can result in sudden death in some infants.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+56486e5802ed98165ec29bd437c853febcb3bcb4	Previous studies have documented retardation and @PHENOTYPICFEATURE$ in association with @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+b08ad906978fd9bf74910dc2490457707ae99275	When the HC was found to be significantly larger than CR, @PHENOTYPICFEATURE$ and certain types of @DISEASE$ were present.	has_symptom
+c1c22187af13d3edeb80c29e8c9b2d6e5bc4c431	In 1960, Holterm?ller and Wiedemann described @DISEASE$ @PHENOTYPICFEATURE$ as Kleeblattsch?del syndrome.	has_symptom
+36482b41d2afd87ba888ae2cc312e92b68087cb1	@PHENOTYPICFEATURE$ (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and @DISEASE$ syndromes.	has_symptom
+b8dfda5de69b6fabc2a2558aef090cd139cbd7ee	@DISEASE$; Flow-mediated vasodilatation; Liver transplantation; @PHENOTYPICFEATURE$.	has_symptom
+9c962878eaaa641f30b36f8fd9b7703477739580	To highlight the clinical, radiological, and pathological presentations of 10 Egyptian patients with camptodactyly, arthropathy, @PHENOTYPICFEATURE$, and pericarditis (@DISEASE$) syndrome.	has_symptom
+1ec08fddd9a3b5fd06f67b2c2d4a64b9034766f2	Camptodactyly-arthropathy-coxa vara-pericarditis (@DISEASE$) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly, childhood-onset of non-inflammatory arthropathy, often associated with non-inflammatory pericarditis or pericardial effusion and progressive @PHENOTYPICFEATURE$.	has_symptom
+67c348257397f63be0655eb77f1ec2842d14ee4b	Camptodactyly-arthropathy-coxa vara-pericarditis (@DISEASE$) syndrome is a rare autosomal recessive congenital disorder that includes childhood-onset camptodactyly, synovial hyperplasia-related arthropathy, progressive @PHENOTYPICFEATURE$ deformity and noninflammatory pericarditis.	has_symptom
+571f9cace7b3b490639273992ec12de4b071f961	The @DISEASE$ (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, @PHENOTYPICFEATURE$, and pericarditis.	has_symptom
+fc3a7d9424501a3ddde7c48550c68612a8e9ffef	Axial involvement with facet joint arthropathy and bony ankylosis in a case of camptodactyly, arthropathy, @PHENOTYPICFEATURE$, pericarditis (@DISEASE$) syndrome.	has_symptom
+33a917168823e013808658dbccd0d33af59f6628	Camptodactyly--arthropathy-@PHENOTYPICFEATURE$-pericarditis (@DISEASE$) syndrome is an autosomal recessive disorder caused by mutations in the PRG4 (proteoglycan 4) gene.	has_symptom
+86cbf22cc22c3248146b24c73705403fc1f4ea8d	Camptodactyly, arthropathy, @PHENOTYPICFEATURE$, pericarditis (@DISEASE$)syndrome: a case report.	has_symptom
+00ef7ed2ea66a20eea504aa013070dc9e024ac7a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @PHENOTYPICFEATURE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	has_symptom
+a6b9f3f4263dae1e5165153ce73f5518b9b202b8	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+79ea17ab49533a80dcec47fd63bad6dcb34f016a	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @DISEASE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	false
+681ecd599eb0edde0cfb8c67a8fa796199ab8989	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+ad9a986dfc5ec598f2750ab61c241c189ba9b9ee	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @DISEASE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+ea562d1435e4db9f34bb575a1321f05ef520682c	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, @PHENOTYPICFEATURE$ with a flat occiput, triangular face, synophrys, blepharoptosis, @DISEASE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+3bb6772218898dc1ce941503831e4a1d0a342b71	The former patient showed characteristic clinical manifestations of the @DISEASE$, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+0f9987a64f1591a4959cf279a7748dbb89e6fc25	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @DISEASE$, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+a956078c18b81d7fe7fe910660ee74aafe489cb4	The former patient showed characteristic clinical manifestations of the 3p- syndrome, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, @DISEASE$, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+ac362b69d28007597513e728845ae08e86ddb0dd	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, @PHENOTYPICFEATURE$, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+2f5a417f46f28e729f002154c3831613db4a479a	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and @PHENOTYPICFEATURE$.	false
+ce4c7866cdb05bb67a8c39ede8d9610820c8dca7	The most common malformations of trisomy @DISEASE$ are: psychomotor and mental retardation, short neck, @PHENOTYPICFEATURE$/telecanthus and congenital heart defects.	has_symptom
+f9cfbdc1e8026e7bd2a32dc4b50e8d15419bc6aa	The most common malformations of trisomy 3p syndrome are: psychomotor and mental retardation, short neck, @DISEASE$/telecanthus and @PHENOTYPICFEATURE$.	false
+2101edf8e60760fe67ceb9f92e6884472af4c4ea	The most common malformations of @DISEASE$ 3p syndrome are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and @PHENOTYPICFEATURE$.	false
+976829def10647d9f0c59ffdccb07b6eb1142c76	The most common malformations of @DISEASE$ 3p syndrome are: psychomotor and @PHENOTYPICFEATURE$, short neck, hypertelorism/telecanthus and congenital heart defects.	false
+66bd04889a914c5a1c7f944c257a8e17862abf24	The most common malformations of trisomy @DISEASE$ are: psychomotor and @PHENOTYPICFEATURE$, short neck, hypertelorism/telecanthus and congenital heart defects.	false
+fdbb8246db6587803b4101a2854dbb33dc889c2c	The most common malformations of trisomy 3p syndrome are: psychomotor and @PHENOTYPICFEATURE$, short neck, @DISEASE$/telecanthus and congenital heart defects.	false
+fb30297822c1c003809bab0ebbb9d6d741632bcd	The most common malformations of trisomy @DISEASE$ are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and @PHENOTYPICFEATURE$.	false
+b10cb629ab531ef2e74208d7178e5240f67a7a3c	More than 12% of patients with severe @DISEASE$ exhibit congenital occlusive @PHENOTYPICFEATURE$.	has_symptom
+54fd1bd7db2039af2937e63723102dc42941fd7b	A puzzling case: @DISEASE$, ligneous conjunctivitis and @PHENOTYPICFEATURE$.	has_symptom
+5ce83cca55957046ae2e87f793b85b470e5d92cb	The availability of the selective aromatase inhibitors letrozole and anastrozole--currently approved as adjuvant therapy for breast cancer--have stimulated off-label use of aromatase inhibitors in pediatrics for the following conditions: hyperestrogenism, such as @DISEASE$, Peutz-Jeghers syndrome, McCune-Albright syndrome and functional follicular ovarian cysts; hyperandrogenism, for example, testotoxicosis (also known as familial male-limited precocious puberty) and congenital adrenal hyperplasia; pubertal gynecomastia; and @PHENOTYPICFEATURE$ and/or pubertal delay in boys.	has_symptom
+ac2f3c6a085bc468edcf190ccec5a1b0d89ed028	@DISEASE$ is inherited as autosomal dominant and characterized by high systemic estrogen levels, @PHENOTYPICFEATURE$, prepubertal gynecomastia and testicular failure in males, and premature breast development and uterine pathology in females.	has_symptom
+76531a21e75ac86adc6fc30f3163cc53a765ea1f	Excess of serum estrone in the presence of normal 17beta-estradiol levels may be the only indicative serum parameter of this mild manifestation of @DISEASE$, which includes prepubertal gynecomastia and moderate hypogonadism in men but not necessarily @PHENOTYPICFEATURE$.	has_symptom
+9bafb3dc742fb1928a3f9dcc5cd67041b9eb225e	GOF variants in this protein have been associated with @DISEASE$ (SKS), a rare autosomal dominant disorder characterized by intellectual disability, macrocephaly, @PHENOTYPICFEATURE$, developmental delay and dysmorphic facial features.	has_symptom
+3c3163890b8c48f19f73ddbcc0e10b3d65984247	GOF variants in this protein have been associated with @DISEASE$ (SKS), a rare autosomal dominant disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, seizure, developmental delay and dysmorphic facial features.	false
+d54841c59a3b4141dc8c66e668ad9555be8fd7d7	GOF variants in this protein have been associated with Smith-Kingsmore syndrome (SKS), a rare autosomal dominant disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay and dysmorphic facial features.	false
+8cd334300c27e41e14ffe9dbc0c9e038a8385d7a	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @PHENOTYPICFEATURE$/dysphagia, ataxia).	has_symptom
+7fe640b4b46988f19a4713578b94c0cfbde9eede	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, @DISEASE$/dysphagia, ataxia).	false
+24efcd2f223e66cf637fa22eee78c4dd94b28280	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia).	false
+a80658a5f5945d216999e05a033ad42662875e5e	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/@PHENOTYPICFEATURE$, ataxia).	false
+398cb72aa7caffa3eb382bf23c10e19e487fd80d	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, @PHENOTYPICFEATURE$).	false
+fc2a805a2c4583c2aef61269b48bd2bd77f74fc4	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @DISEASE$/dysphagia, @PHENOTYPICFEATURE$).	false
+3b0796edb7268d8ad268b66d594bfbeb461d3d58	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @DISEASE$/@PHENOTYPICFEATURE$, ataxia).	false
+0251f7fbd8b2ca3d8dd6eef74cebf3c27b2d50b8	In some rare cases, such as @DISEASE$ (TS), a specific mutation in a single gene can be sufficient to generate autism or ASD in most patients, potentially offering insights into the etiology of @PHENOTYPICFEATURE$ in general.	has_symptom
+f7b6a85daf7124f4033b532f1fc2c12738d6a9f3	In some rare cases, such as @DISEASE$ (TS), a specific mutation in a single gene can be sufficient to generate @PHENOTYPICFEATURE$ or ASD in most patients, potentially offering insights into the etiology of autism in general.	has_symptom
+a0bf29d88a16dd3cca262f687e423b581d575cac	The @DISEASE$ mutation is a rare de novo gain-of-function variant in CACNA1C that causes @PHENOTYPICFEATURE$ with high penetrance, providing a powerful avenue into investigating the role of CACNA1C variants in neurodevelopmental disorders.	has_symptom
+9cc35bde36c58a1c954f2e30b9beb9e5bf11f689	A reversal of enhanced-sympathetic tone by VDI-enhancing CaN inhibitors could be beneficial for improving @DISEASE$ complications such as long-QT and @PHENOTYPICFEATURE$.	has_symptom
+ffaf8e995a77d2e4be4821557e843b7658bf2a77	@DISEASE$ (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or @PHENOTYPICFEATURE$.	has_symptom
+028bc199389e1d5afff20ca9b294561a1ba5932a	@DISEASE$ (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and @PHENOTYPICFEATURE$ or autism.	false
+7d6b4d937e0ef7e6c61caa24551dbe083db7c050	Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and @PHENOTYPICFEATURE$ or @DISEASE$.	false
+468b89f2c524118e5c5da1d5a1b8393bf3d1b056	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and @PHENOTYPICFEATURE$.	has_symptom
+cf5159d24195d6c4d66122f4355316f45a50ed59	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @PHENOTYPICFEATURE$, mental retardation, hypotonia, and @DISEASE$.	false
+9ea0ab67d87eb18647c348dc5d0ff0b2e6a30893	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @PHENOTYPICFEATURE$, hypotonia, and autism.	false
+e63e00b59cef4a34d4b120ef9434be107aa8a462	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+3a2ed57775f5c60af550e448ee688a43da1a48b4	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including @PHENOTYPICFEATURE$, mental retardation, hypotonia, and autism.	false
+d88ef2bd70757d6feb6fb2613ea662e17c46107e	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, @PHENOTYPICFEATURE$, hypotonia, and @DISEASE$.	false
+4127d27d4a41514e616907fb1b61ce748cb5cfdb	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including @PHENOTYPICFEATURE$, mental retardation, hypotonia, and autism.	false
+21b670ad1b1ca966226b8409f72b004677a85d63	@DISEASE$ patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+68107a085b9c2011d69bd4a38d3ae3d282118d0c	@DISEASE$ patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+7da0b9b79537d64f6ea1bbf32ac1fa5baad73d3d	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; @PHENOTYPICFEATURE$; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and @DISEASE$.	false
+c866cca1a6f428434c6135a44ddedc68e0afa705	Timothy syndrome patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+ff0d11fdcdd623904e68b2f3f9d2b76feb2ef74a	Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent @DISEASE$; and neurologic issues, including seizures, @PHENOTYPICFEATURE$, hypotonia, and autism.	false
+424830b23a0681bfd80d161dc456b798e532030f	Timothy syndrome patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and @DISEASE$.	false
+769c3cb9533c9cbe3c7c5a22f6aae057b16c79aa	Furthermore, rare mutation in CACNA1C is suggested to cause @DISEASE$, a multisystem disorder including @PHENOTYPICFEATURE$-associated phenotype.	has_symptom
+17a4732c0252215d6cf5a007cadd2a9bb60fbe33	regulates the differentiation of cortical neurons in humans and offer new insights into the causes of @PHENOTYPICFEATURE$ in individuals with @DISEASE$.	has_symptom
+cf6aae4f8f5bfd2c02a5197e323da9d48befb2c0	@DISEASE$ is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developmental delay and @PHENOTYPICFEATURE$.	has_symptom
+103915bed0e421bfcf8dc9fc614a87115b1a8a48	Previous studies implicate CACNA1C (L-type Ca(V)1.2) calcium channel mutations in a disorder associated with @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+c739e3b8c2059a03aaa41f96448778c3889dee50	Light-induced fusion of WT Ca(v)1.2 channels with Ca(v)1.2 channels carrying a gain-of-function mutation that causes arrhythmias and @PHENOTYPICFEATURE$ in humans with @DISEASE$ (Ca(v)1.2-TS)	has_symptom
+2adfaf5a05c59241e51283f9dccd6a6f1d6150ea	He developed progressive right hemiparesis and @PHENOTYPICFEATURE$ caused by a parietal large mass that simulated a growing @DISEASE$.	has_symptom
+d7c2891cb6195bc5c6f62c45ee66d4794478c8fa	Here we evaluated a luciferase immunoprecipitation technology (LIPS) for the diagnosis of a CNS @PHENOTYPICFEATURE$, @DISEASE$ (SPS).	has_symptom
+a90759f30897d9d0c84d01d0320475989c85f165	Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-@PHENOTYPICFEATURE$-neuropathy (@DISEASE$) syndrome and Marinesco-Sj?gren syndrome.	has_symptom
+818dde4aaf4c1d283e34c2956af741faf88068b6	Congenital cataracts @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome: a rare cause of parainfectious rhabdomyolysis.	has_symptom
+c341c8bd7c77d803cdbb0054b026d2217899542a	The congenital cataracts @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder.	has_symptom
+30e26d7827694bd843693eec2e0f978f4dee34b8	Congenital cataracts @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome (OMIM 604168) is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies; refs.	has_symptom
+b30d6a05948b61c83de0941bcb312a9468b610c9	Peripheral nerve abnormalities in the congenital cataracts @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome.	has_symptom
+490f032869d19188f2accf0a28727f42408109c5	To determine the nature and course of ophthalmologic abnormalities in congenital cataracts @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome in a genetically verified group of 9 patients.	has_symptom
+08303515b9d8770b3d0e733556c6522b205da5f7	Congenital cataracts @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome: a novel developmental disorder in Gypsies maps to 18qter.	has_symptom
+36b63fbf7441d1af304114f100af8b341b1ef82d	Congenital cataracts, @PHENOTYPICFEATURE$, neuropathy (@DISEASE$) syndrome is a complex autosomal recessive multisystem disorder.	has_symptom
+6831466a76d7f9dbafa612b5bad9323040488898	Anaesthesia and orphan disease: A child with Congenital Cataract @PHENOTYPICFEATURE$ neuropathy (@DISEASE$) syndrome: a case report.	has_symptom
+77112cdba0913676952d1c733ccdd0bc1628345b	Congenital Cataracts @PHENOTYPICFEATURE$ Neuropathy (@DISEASE$) syndrome is a complex developmental disorder of autosomal recessive inheritance.	has_symptom
+398cb72aa7caffa3eb382bf23c10e19e487fd80d	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, @PHENOTYPICFEATURE$).	has_symptom
+65becf28b80100e8cecab359defe05c94760ff6d	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/@PHENOTYPICFEATURE$, @DISEASE$).	false
+24efcd2f223e66cf637fa22eee78c4dd94b28280	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia).	false
+a80658a5f5945d216999e05a033ad42662875e5e	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/@PHENOTYPICFEATURE$, ataxia).	false
+539543d5297f52c7c7b734780e95aafcffa2c1b7	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, @DISEASE$).	false
+8cd334300c27e41e14ffe9dbc0c9e038a8385d7a	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @PHENOTYPICFEATURE$/dysphagia, ataxia).	false
+b68e3ac56006c69d66b615e45c9cfe4f8b2c4284	Fatal Familial Insomnia (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor hyperactivity and somato-motor abnormalities (pyramidal signs, myoclonus, @PHENOTYPICFEATURE$/dysphagia, @DISEASE$).	false
+a69a2b15f1d82123ce0a8cc2031c3e843540754c	Hereditary prion diseases are classified into 3 major phenotypes: familial CJD (fCJD); Gerstmann-Straeussler-Scheinker disease (GSS), which mainly presents as spinocerebellar @PHENOTYPICFEATURE$; and @DISEASE$.	has_symptom
+305a4113cb1e96c8b59b086c0c3bb75823c52276	A 25-year-old woman with encephalopathy and sensorineural hearing loss was referred to us in order to confirm @DISEASE$, due to bilateral @PHENOTYPICFEATURE$.	has_symptom
+6557223de41ea7fae7e5aa34760eec2f968b9650	A 25-year-old woman with encephalopathy and @PHENOTYPICFEATURE$ was referred to us in order to confirm Susac syndrome, due to bilateral @DISEASE$.	false
+3de376706bf0317dcb6b6b619f7fe8582483754c	A 25-year-old woman with encephalopathy and @PHENOTYPICFEATURE$ was referred to us in order to confirm @DISEASE$, due to bilateral visual loss.	false
+0fec0281cd995076cef66878f2f43e902d8b75ff	In any patient presenting with a progressive disabling neurological disorder associated with callosal lesions and/or hearing loss, and/or @PHENOTYPICFEATURE$ especially in women, @DISEASE$ should be suspected.	has_symptom
+3d0a055093f9836db903896c51fced88094fc539	Reversal of @PHENOTYPICFEATURE$ with hyperbaric oxygen treatment in a patient with @DISEASE$.	has_symptom
+0e808c2f4238a0821a52c3951316e62be689ac3b	@DISEASE$ is a rare microangiopathy of unknown etiology, which involves the clinical triad of encephalopathy, @PHENOTYPICFEATURE$, and hearing loss.	has_symptom
+b2fece40b08bf2ffac1b737d7fc57e45bd94f3e4	@DISEASE$ is a rare disorder of unknown origin characterized by the triad of encephalopathy, fluctuating hearing loss, and @PHENOTYPICFEATURE$ resulting from microangiopathy of the brain, cochlea, and retina.	has_symptom
+6700ca4af0086575f83eed906cce8cc10977375a	Because many conditions may produce any combination of strokelike cerebral symptoms, encephalopathy, hearing loss, and @PHENOTYPICFEATURE$, the differential diagnosis for @DISEASE$ includes connective tissue disease, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and retinal ischemia.	has_symptom
+73cf064fcdfcf411e8d3d1047cb80c9b7534ca8c	Because many conditions may produce any combination of strokelike cerebral symptoms, @PHENOTYPICFEATURE$, hearing loss, and visual loss, the differential diagnosis for retinocochleocerebral vasculopathy includes connective tissue disease, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and @DISEASE$.	false
+05014c2c2f1de8fdb52cf43f702974931b2f2bc5	Because many conditions may produce any combination of strokelike cerebral symptoms, @PHENOTYPICFEATURE$, hearing loss, and visual loss, the differential diagnosis for retinocochleocerebral vasculopathy includes @DISEASE$, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and retinal ischemia.	false
+9008847e207f1c5dfba8583c8cbf45b246385ddd	Because many conditions may produce any combination of strokelike cerebral symptoms, @PHENOTYPICFEATURE$, hearing loss, and visual loss, the differential diagnosis for retinocochleocerebral vasculopathy includes connective tissue disease, demyelinating disease, procoagulant state, infection, @DISEASE$, and more routine mechanisms of cerebral and retinal ischemia.	false
+920a86d2ee907b496a22d3e6917fb8177013e62f	Because many conditions may produce any combination of strokelike cerebral symptoms, @PHENOTYPICFEATURE$, hearing loss, and visual loss, the differential diagnosis for @DISEASE$ includes connective tissue disease, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and retinal ischemia.	false
+449ec17817edf4b6ee2bc6d2c503c11166dfd7ba	Because many conditions may produce any combination of strokelike cerebral symptoms, @PHENOTYPICFEATURE$, @DISEASE$, and visual loss, the differential diagnosis for retinocochleocerebral vasculopathy includes connective tissue disease, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and retinal ischemia.	false
+4ac54a809fa410d0bd85a4eb0fb30a44f5873468	Because many conditions may produce any combination of strokelike cerebral symptoms, @PHENOTYPICFEATURE$, hearing loss, and @DISEASE$, the differential diagnosis for retinocochleocerebral vasculopathy includes connective tissue disease, demyelinating disease, procoagulant state, infection, neoplasm, and more routine mechanisms of cerebral and retinal ischemia.	false
+c2d4e4d61ca98fc6ebd484344c752d37a5b41073	We report the first case of @DISEASE$ in Koreans, in a 23-yr-old female patient who presented with sudden @PHENOTYPICFEATURE$ and associated neurological symptoms.	has_symptom
+b14be1abd3e98395a3c0dd8b8d042d5b12f513f6	@DISEASE$ (PKU) is an @PHENOTYPICFEATURE$ inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene.	has_symptom
+16609ca6c49ba389166c13de8a293ccc8ca2609b	Phenylketonuria (@DISEASE$) is an @PHENOTYPICFEATURE$ inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene.	has_symptom
+d729fc2ecedf52fa9e40a40ba9ae67afb4db42d4	The LEB has been associated with numerous syndromes including @DISEASE$, Cenani-Lenz @PHENOTYPICFEATURE$, isolated oligosyndactyly, and Nievergelt syndrome.	has_symptom
+bc74e4d3a9b4c6e3cf84bec82dda74b2a0073677	We report the case of a 72-year-old woman with severe bilateral @PHENOTYPICFEATURE$ and facial palsy caused by @DISEASE$ that was present for more than 29 years.	has_symptom
+497c3cd425aa4c65af1d6dc2614dfe3ba3af8133	@DISEASE$ is characterized by the adult onset of @PHENOTYPICFEATURE$, external ophthalmoplegia, dysphagia, and distal weakness.	has_symptom
+49d6d034fa1874ba03e52ef0a20d937bfb16b383	@DISEASE$ and neurogenic @PHENOTYPICFEATURE$ after carotid endarterectomy.	has_symptom
+a2cd5ce27aefddb6bda2e00bd256c840890bf7fa	Letter to the Editor Regarding "@DISEASE$ and Neurogenic @PHENOTYPICFEATURE$ After Carotid Endarterectomy".	has_symptom
+ead2b6bcf4754fad5b5763d24fc9dac50031b4a4	The patient had an eventful hospital course complicated by a @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+14a62f2b9fa9495b7b2702f15377a612ac349f03	Acute @PHENOTYPICFEATURE$ caused by @DISEASE$ in a pregnant woman undergoing transvaginal cervical cerclage: A case report.	has_symptom
+99f6beb2662ba6734eb6cd4889f6c4494941fb52	[@DISEASE$ and Neurogenic @PHENOTYPICFEATURE$ Following Fibrinolytic Therapy for Embolic Stroke:A Case Report].	has_symptom
+8232bb7a1e99b40e2d1a75defb3a506b86319cef	@DISEASE$ presenting with acute @PHENOTYPICFEATURE$.	has_symptom
+0966f77b92de7a6774039f619adefcaf5c48b30b	@DISEASE$/myocardial stunning related @PHENOTYPICFEATURE$ seems more common than the others.	has_symptom
+45e8bdcd68eadf760ae0abc974b91050a39158cf	Based on her clinical signs and symptoms, we suspect that the @PHENOTYPICFEATURE$ was caused by @DISEASE$.	has_symptom
+39dcefc1ad72c96d606f4e212694e652a7293beb	@DISEASE$ (TCM) and neurogenic @PHENOTYPICFEATURE$ (NPE) are rare complications of an acute ischemic stroke.	has_symptom
+6a37d76a0cf69d761958811b4e9d37f855ac6d30	Development of @DISEASE$ with severe @PHENOTYPICFEATURE$ before a cesarean section.	has_symptom
+4326bd46df75409bf82491b46fe6fc15d54ac738	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, @PHENOTYPICFEATURE$, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	has_symptom
+eb16909c8701418877087c2c5a999262714bca7c	Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	false
+aae4b604979977f2def49c067bbb39f9ec234f34	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, @PHENOTYPICFEATURE$, congenital cardiac defects, and genital anomalies in boys.	false
+e6bba6e08f1071a7cb6a085003af2447f911e218	Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic @PHENOTYPICFEATURE$, @DISEASE$, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	false
+f8d11c694798983d280e5117138c7a306dabddde	Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, @DISEASE$, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and @PHENOTYPICFEATURE$ in boys.	false
+f149d4e6be71c285712bd735a3fe75d42b3aa086	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and @PHENOTYPICFEATURE$ in boys.	false
+3e527f611591d1d079c95fa336a3bfd3c78144e0	Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, @DISEASE$, severe mental retardation, developmental delay, @PHENOTYPICFEATURE$, congenital cardiac defects, and genital anomalies in boys.	false
+9d87488401dc215934082ab5cae8b53457cb15ee	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, @PHENOTYPICFEATURE$, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	false
+3d2d1ab669affd28652cd8aa55c3c974f4d35647	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic @PHENOTYPICFEATURE$, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	false
+42b68997ec80a0aed6ccd4da61ea807a00bdcaa5	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @PHENOTYPICFEATURE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	has_symptom
+08050c90e85f74ed6762ecff2777edc35bc3b418	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @DISEASE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+0b30efdc7d8eeaba1e9eca1135521fef1f99e445	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+3eb77e384d878b78210a633a1e0b6f89eb81031a	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+05ac426e5a9213dcc5a1ce9cff422215e4feef35	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @DISEASE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+74c273962e6c82eb1b9429b086388f497ed956bb	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+41ce2964798a5f5dc1260f77acda9f47a1b64de7	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+1cabe4e96f482e13b2ab55a028c75ac9823d6fd1	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+781c6b589a2144c78596f1457faa65ca88444813	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @DISEASE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+544440f8a13da135617b48f6fd7d000613e91683	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+011202acec2dc5d528b13476f3cc4afa5dd9d985	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+a8b68b4b56d5209305fbdbd87f2418e138aab3aa	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, @PHENOTYPICFEATURE$, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+1ccbdd4ebd5272084a8701873840bee2631ac683	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+34c58378689ad0853ba8b6a02a9b906433156b01	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+6340316bd2faf27aa6643218de2df4d33b24e9ca	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+2cc08552bcce133b8ed4b78824f448d629097675	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ff0c9257d25d2c0555b05cc31fdbf696b498fd5d	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+d5b554504e5a9ca38fc0e2860fc8ff377c39aa5a	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, @DISEASE$, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+ca3aa76cc204a0bac294453f3044773fca0de6b8	Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, @PHENOTYPICFEATURE$, preauricular tags or pits, ear anomalies, cleft or high-arched @DISEASE$, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+7e485b67a97963da0c8f2de02df4927558b9b76c	We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior @PHENOTYPICFEATURE$, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the @DISEASE$ (OFDS).	has_symptom
+005e9224010ef79417274409b2501f9c1ad5cca2	We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior @DISEASE$, @PHENOTYPICFEATURE$, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS).	false
+6b480aa8d7580b9a1bd1453a9563c296ae620ad7	We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, @PHENOTYPICFEATURE$, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the @DISEASE$ (OFDS).	false
+d88d951ebcee505c1ee1781034a94d6654d417ef	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (@PHENOTYPICFEATURE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	has_symptom
+b34260a45dc451e4f5489647d1b5ae75a4994b2c	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+6f17b437503ce6d61b5fcaaf55696ef1d4cbc9cc	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+13f68d69db7338e247946a782678b64fa13b58cf	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@DISEASE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+a5ec3c1af96a2f0ce4de15df9418900ad591ea05	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+f233449a3a00d52633fcd1848e450bdf66d15aa0	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@DISEASE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+885d0b741216ca6bffdefc0e596be1425fa80832	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (@DISEASE$, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+fdc4d4c6d7355a46224bfc33ec0dc51d868dc2cf	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; @PHENOTYPICFEATURE$; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral brachydactyly of hands) symptoms.	false
+16883c0d047a9a92c271ab41faef36c6bc597a40	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+ffb5e91240d350dc0bfea139f5cb7175cacdb31f	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+d224a5ebe69e9bcd3e722e4e28c2948899158044	The present fetus fulfilled the diagnosis of @DISEASE$ syndrome: Dysmorphic features, @PHENOTYPICFEATURE$ and lobulate tongue and polysyndactylies of the feet and hands.	has_symptom
+a05b8e7c984c051d4eb01e6779c476714e5c3b02	Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, @PHENOTYPICFEATURE$ and apneic spells: an existing @DISEASE$ or a new variant?	has_symptom
+fce801fb6ddc188c8d9f2865c1a6c01f919ee770	We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, @PHENOTYPICFEATURE$, microglossia and tongue hamartomata consistent with an @DISEASE$ (OFDS).	has_symptom
+ad028924c1fd2a41abdf8d12199ee314bc1dbe58	Manual and oral stereognosis in children with @PHENOTYPICFEATURE$, gonadal dysgenesis, pseudohypoparathyroidism, @DISEASE$ and Kallman's syndrome.	has_symptom
+44cfbca6f3c6ca8d6bc3cc0f6e9f4c26485a2819	Manual and oral stereognosis in children with cleft palate, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, @DISEASE$ and Kallman's syndrome.	false
+e665d2b0d7cde0370c982c2c470dcd3918f9dc59	Manual and oral stereognosis in children with @DISEASE$, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, oral facial digital syndrome and Kallman's syndrome.	false
+f0961dbd8032842961d98aaf906cd064c636c7c8	Manual and oral stereognosis in children with cleft palate, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, oral facial digital syndrome and @DISEASE$.	false
+5679a218e7e7422a64dd0d7189b0751757ed57f4	Cerebral @DISEASE$ with cranial @PHENOTYPICFEATURE$.	has_symptom
+dd176087565a95af33fa0f75f7159de5cef9dd81	We present a case report, complete with magnetic resonance images, of subcutaneous nodular calcaneal @DISEASE$ @PHENOTYPICFEATURE$, which failed initial identification by means of limited bone core biopsy and was then treated with aggressive surgical excision combined with medical treatment.	has_symptom
+f10e1f26f42d6acfe11f57ad818e3614a779d2d6	Anterior chamber hemorrhage during @PHENOTYPICFEATURE$ surgery in @DISEASE$.	has_symptom
+6a924bd9bba774d292a0aee844c36d1c0ac4db82	The authors report the case of a neonatal diagnosis of @DISEASE$ suspected by the discovery of bilateral @PHENOTYPICFEATURE$ initially isolated.	has_symptom
+f9a0aa46e37c9bfdbe46a226cc6553daaef097e4	Delayed vitreous haemorrhage after paediatric @PHENOTYPICFEATURE$ surgery in @DISEASE$.	has_symptom
+6f19ffab528499e8190e2b3227c26ff496810d4c	Main Outcome Measure Treatment of 7 patients (14 eyes) with bilateral @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+2519780a120578b2f705c62c29acba4d601b1524	A Hispanic girl with @DISEASE$ (OCRL), an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, glaucoma, mental retardation, and proteinuria, is reported.	has_symptom
+7e47a73fb54ab5ca49e1555ac2e8ebd5983d8cfe	A Hispanic girl with Lowe oculocerebrorenal syndrome (@DISEASE$), an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, glaucoma, mental retardation, and proteinuria, is reported.	has_symptom
+03c8dfd9bcc394c0bd9b7bde9dfe38af6d803ead	A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by @DISEASE$, glaucoma, @PHENOTYPICFEATURE$, and proteinuria, is reported.	false
+aabfdf6f40d7f09d711de85bdbf78da8c073f5c3	A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, @PHENOTYPICFEATURE$, and @DISEASE$, is reported.	false
+2e6faaa0581f4b9cc92e0eb622ab138d11021f11	A Hispanic girl with Lowe oculocerebrorenal syndrome (@DISEASE$), an X-linked recessive condition characterized by cataracts, glaucoma, @PHENOTYPICFEATURE$, and proteinuria, is reported.	false
+4197935aaf6757fc04216e6f3645262726cb6364	A Hispanic girl with @DISEASE$ (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, @PHENOTYPICFEATURE$, and proteinuria, is reported.	false
+28307c02fe8664f7bacb074ac3d209d246107ff3	To describe the treatment of 7 patients (14 eyes) with bilateral @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+30bd7ff52b74a3fa228acffa2cba5103320d47e5	Early identification and surgical removal of @PHENOTYPICFEATURE$ is recommended in patients with @DISEASE$.	has_symptom
+56ad3e994431c5103d10881f04cd76e7a88a14c5	Seven patients with @DISEASE$ had visually significant bilateral @PHENOTYPICFEATURE$ detected on their first full ophthalmic examination.	has_symptom
+f1d73b9e2ec27a0f9f98e0aac88a8706ab80694c	@DISEASE$ (Lowe's syndrome) is characterized by mental and motor retardation, @PHENOTYPICFEATURE$, glaucoma and renal abnormalities.	has_symptom
+4efce2ba15336f67cd1d01a1ea0e00f9efdc3270	@DISEASE$ is a rare cause of antenatal @PHENOTYPICFEATURE$, which so far only one case has been reported.	has_symptom
+bf11637aac56fed46531dc46ef40d1d77b0391e4	We present the case of a 6-year-old with childhood-onset @DISEASE$, first presenting with psychiatric symptoms and progressive @PHENOTYPICFEATURE$, slurred speech and cognitive impairment.	has_symptom
+078c7707f3289b634aa5ab1b8bbe8f1a0ebea705	We present the case of a 6-year-old with childhood-onset @DISEASE$, first presenting with psychiatric symptoms and progressive gait difficulties, slurred speech and @PHENOTYPICFEATURE$.	false
+2a854d0d8145fa6ba5e5b7c11b5571d1dad82d85	We present the case of a 6-year-old with childhood-onset ALD, first presenting with psychiatric symptoms and progressive @DISEASE$, slurred speech and @PHENOTYPICFEATURE$.	false
+0b558c4fa6f8c744029042f1a05eb1b58ce65b22	Chondrodystrophic myotonia or @DISEASE$ is a rare genetic disorder characterized by myotonia and @PHENOTYPICFEATURE$.	has_symptom
+cd0b6273afc94f52ff96f7363a11da137b242ff5	SJS is an autosomal recessive @PHENOTYPICFEATURE$ characterized by varying degrees of myotonia and chondrodysplasia, and patients with @DISEASE$ survive.	has_symptom
+7a9da716c42e8d96047a75cd7f33c0f267e88d6f	@DISEASE$ is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and @PHENOTYPICFEATURE$.	has_symptom
+e652e30b75b183ee54081b3c3c6ee39c24f21820	@DISEASE$ is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+479e697d194cb65dae06b416261603296e2dff19	Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b0c4c421348c7dde0713d2c530f67a57a36a3dbb	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the @DISEASE$ (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (SWS), which comprises campomelia at birth with @PHENOTYPICFEATURE$, contractures, and early death.	has_symptom
+0c6fce452316539da155c98691345d4649708ed3	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the @DISEASE$ (SJS) of myotonia and @PHENOTYPICFEATURE$, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, contractures, and early death.	has_symptom
+02225956540b27285ccdcc2395338c466a3c3122	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and @DISEASE$, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, @PHENOTYPICFEATURE$, and early death.	false
+1225aa8178a83c2cb603ee6bf2919024afec5b03	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the @DISEASE$ (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, @PHENOTYPICFEATURE$, and early death.	false
+d86f6baf0ef4769371f33c7d3a6605a04ec1799f	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (@DISEASE$), which comprises campomelia at birth with skeletal dysplasia, @PHENOTYPICFEATURE$, and early death.	false
+3020893b737f15e1977fbca061aff4caf6c5bcc3	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann @DISEASE$ (SWS), which comprises campomelia at birth with skeletal dysplasia, @PHENOTYPICFEATURE$, and early death.	false
+6a588c07fea2a21fa19c62b719ca73d202de5adf	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (SWS), which comprises campomelia at birth with @DISEASE$, @PHENOTYPICFEATURE$, and early death.	false
+f0836c78711013d09a1a612bc8520750fc777060	@DISEASE$ (SJS) is a rare autosomal recessive @PHENOTYPICFEATURE$ associated with myotonia.	has_symptom
+6e23cc991b08dede594b8d527531ee2021fa9339	Schwartz-Jampel syndrome (@DISEASE$) is a rare autosomal recessive @PHENOTYPICFEATURE$ associated with myotonia.	has_symptom
+3df548de22e3aefd85ee963deda9e22021a92900	@DISEASE$ is a rare autosomal recessive disorder characterized by myotonia and @PHENOTYPICFEATURE$.	has_symptom
+57f3f6b10465a60a59d9f9ea11998d84624c0c82	We suggest that the relaxation of myotonia due to early diagnosis and treatment may prevent development of the classic @PHENOTYPICFEATURE$ of @DISEASE$.	has_symptom
+e6bacb12d0ab5d7e22d579c847f76e07fa2b8665	@DISEASE$ (SJS), another genetic disorder with autosomal recessive @PHENOTYPICFEATURE$, is characterised by varying degrees of myotonia and chondrodysplasia; it has also been noted associated with CTS in a child.	has_symptom
+8587f33d112ad61e80594b4755254fdfb96cdaed	@DISEASE$ (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and @PHENOTYPICFEATURE$, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses.	has_symptom
+13ff323d73c561ee2a1ad14f9d466bf6e6fb95fb	Schwartz-Jampel syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+b1598b5ce718420b8deaf80eb53f3f378ddb57da	@DISEASE$ (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, @PHENOTYPICFEATURE$, and growth retardation.	has_symptom
+27c1a3f71d38c92c70beab3fe981fc8ce8b4dc59	@DISEASE$ (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and @PHENOTYPICFEATURE$.	false
+8e02275a80443c389a70e4d006332a5a3469f22a	Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+54003ae6ac3c23e4c89e60f731839ad3a21eb012	Schwartz-Jampel syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and @PHENOTYPICFEATURE$.	false
+b278fa3712d2e1d4770726c55646f7c09e7561d9	@PHENOTYPICFEATURE$ in @DISEASE$: hitting the target.	has_symptom
+c4500dace9642a336f9d1041fe2768bb68b58978	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$ in Nigeria.	has_symptom
+bbd4582bd062ffa5de9228d4b09577b63eeaa6eb	Rapamycin reduces @PHENOTYPICFEATURE$ frequency in @DISEASE$.	has_symptom
+5a94b4fab18063126958f2ed9fed54943320aec3	Neonatal @DISEASE$ presenting with intractable @PHENOTYPICFEATURE$.	has_symptom
+412e5e600a09d3cd5cc2be1f9293ce97be7cb3b0	Clinically silent @PHENOTYPICFEATURE$ in a neonate with @DISEASE$.	has_symptom
+eb6e83b5ac6d51427eb88972c1d45ff179d6a156	Influence of @PHENOTYPICFEATURE$ on early development in @DISEASE$.	has_symptom
+ca4bd3da857282018190b76677b27a83195baf77	Rotatory @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+ad90444414f83f93e5e68e9a4c666b7d0647c589	@DISEASE$ is commonly associated with medically intractable @PHENOTYPICFEATURE$.	has_symptom
+f85f47e4cd3712fddcbab2c4ba07acc9096bf3a8	[Case of @DISEASE$ with gyratory @PHENOTYPICFEATURE$].	has_symptom
+d8465256c340c2c8991d99b90c4fa99eba67a3c1	@PHENOTYPICFEATURE$ and intellectual disability associated with @DISEASE$.	has_symptom
+d3f3c1801edc4918d0bf4fd2a1103432fc0f50bf	We report a 39-year-old woman with @DISEASE$-type I (HSN-I) and @PHENOTYPICFEATURE$--Hicks' disease.	has_symptom
+dd1bda155a148d0c8cf03447148eb043b2419cce	@DISEASE$ with @PHENOTYPICFEATURE$: a familial multisystem atrophy.	has_symptom
+f5ada7f80a7adbca7f5ccccdb213c186ab7d732e	Inflammatory glial activation in the brain of a patient with @DISEASE$ type 1 with @PHENOTYPICFEATURE$ and dementia.	has_symptom
+d1659766e1fad80dc33cf35449d98b790a5926ef	Mutations in exons 21 and 20 of the DMNT1 gene have been associated with two multisystem neurodegenerative diseases that involve central and peripheral nervous system ADCADN (Autosomal Dominant Cerebellar Ataxia with @PHENOTYPICFEATURE$ and Narcolepsy) and HSAN 1E (@DISEASE$ IE).	has_symptom
+75e424050df9bc2982c0aad025511344e67a5229	@DISEASE$ with @PHENOTYPICFEATURE$ and dementia: a clinical and neuroimaging study.	has_symptom
+ed0eaf67d431b92166e67f903a4a938c49e336ad	[A sporadic case of @DISEASE$ with tonic pupil, ichthyosis vulgaris, @PHENOTYPICFEATURE$ and atypical retinitis pigmentosa (author's transl)].	has_symptom
+f11ead409666c1292fe2c06a2af6174401f7cfb3	@DISEASE$ (NS) is a syndrome with multiple congenital anomalies, characterized by craniofacial anomalies, congenital heart disease, skeletal and @PHENOTYPICFEATURE$, and mild mental retardation.	has_symptom
+83b13439403720dc05dd47e0130ed89a2b008d49	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and @PHENOTYPICFEATURE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	has_symptom
+49b7ec53b6ce1585965d3fbd62c016446e77851d	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @PHENOTYPICFEATURE$ and @DISEASE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+b2f48ae915197ae83d3255a6ee95a07b9704906d	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+e1ca5f28a7a010d7cf2ec1cd313268531dfdc6f2	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @PHENOTYPICFEATURE$, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+3adf39b0fb68bcbcfb3c1b96d3fa3eed6b2989b7	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, @PHENOTYPICFEATURE$ and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+b8bea1510a892fdb9ab98a901504f2b76c38543e	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and @DISEASE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+da6e4dffe50ff81073dfceb7ff430aa1e9ea3854	The additional phenotypic manifestations in this family-proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, @PHENOTYPICFEATURE$, pectus deformities and @DISEASE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+04796464d4d26dd3734de97db0dab5e9df0a1822	The additional phenotypic manifestations in this family-proportionate short stature, @PHENOTYPICFEATURE$, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+ced7c196fd7d9e9956aa8328e44df8ab50857c86	The additional phenotypic manifestations in this family-proportionate short stature, @PHENOTYPICFEATURE$, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and @DISEASE$-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [Noonan syndrome (NS) and related disorders].	false
+da3f5d9fb9f4f041e9464aec49838c22dd14d98e	[Cutaneous aplasia, non compaction of the left ventricle and severe @PHENOTYPICFEATURE$: a new case of @DISEASE$ (microphtalmia with linear skin defects)].	has_symptom
+aac88a5d6585c3b7ec776b718a5763aab816e133	CONCLUSION: The prenatal detection of intrauterine growth restriction, hypospadias and @PHENOTYPICFEATURE$ should lead doctors to suspect the presence of @DISEASE$.	has_symptom
+c5931826c9440d3b1209d7c04099c72428a2c331	Prenatal diagnosis of @DISEASE$ (4p-) in association with congenital hypospadias and @PHENOTYPICFEATURE$.	has_symptom
+d101b3cf74c27af76d265a00229fecc17c5d4e2d	Individuals with @DISEASE$ and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, failure to thrive, obesity, or @PHENOTYPICFEATURE$), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	has_symptom
+84b4e92bb76fa95cc15db4fd02393297e3289069	Individuals with IDD and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, @PHENOTYPICFEATURE$, obesity, or growth retardation), @DISEASE$, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+206350fab0e6b4497e06041662ed042326e2db18	Individuals with IDD and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, failure to thrive, @PHENOTYPICFEATURE$, or growth retardation), @DISEASE$, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+6ff0fbc7eb2276cfc1f77edbeddc00eb8475e4ed	Individuals with IDD and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, failure to thrive, @PHENOTYPICFEATURE$, or @DISEASE$), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+7aef78695cb221046f5ad3025b596c9b1123cf6e	Individuals with @DISEASE$ and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, @PHENOTYPICFEATURE$, obesity, or growth retardation), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+5effdd432c7eaf3e802662e9e6e41e8f4fc5ec0c	Individuals with @DISEASE$ and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, failure to thrive, @PHENOTYPICFEATURE$, or growth retardation), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+ff0546c99187851d561bf6644f6856b371a43f15	Individuals with IDD and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, @PHENOTYPICFEATURE$, obesity, or @DISEASE$), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+97f22fcac72b8fd1b94d1c5fa0720f6ab57fc174	Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant @PHENOTYPICFEATURE$ with @DISEASE$ and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel.	has_symptom
+cda8a3c4a99a77fddd895006fbda58684c02be21	@DISEASE$ is a rare short-trunk @PHENOTYPICFEATURE$ skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones.	has_symptom
+8571d10d7a1b348abac324af007308647b394a98	Brachyolmia is a rare short-trunk @DISEASE$ @PHENOTYPICFEATURE$ characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones.	false
+ccb1737a24072f237174e908efdcab81b2a205c9	@DISEASE$ is a rare short-trunk short stature @PHENOTYPICFEATURE$ characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones.	false
+474b1a6558006341267a42c762eb1793a4e6a92d	@DISEASE$ is characterized clinically by @PHENOTYPICFEATURE$ and radiographically by generalized platyspondyly without significant long bone abnormalities.	has_symptom
+4986bfab23508dfe00a8e17d5909a0d55f060155	@DISEASE$ is a skeletal dysplasia characterized by short spine-@PHENOTYPICFEATURE$, platyspondyly, and minor long bone abnormalities.	has_symptom
+cefa5f695279389144808d13ffb7157ce29f4175	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities.	false
+53af400e97c8b356c543cdbd4fa5d22771368266	Brachyolmia is a @PHENOTYPICFEATURE$ characterized by short spine-@DISEASE$, platyspondyly, and minor long bone abnormalities.	false
+de6231237ce3416a033e0e63e8e3ed484f771fca	Agglomerative hierarchical cluster analysis showed that total DEMSS scores largely differentiated clusters of children with CAS vs. mild @DISEASE$ vs. other @PHENOTYPICFEATURE$.	has_symptom
+795c41b89a630715c150ce426d796dcfd8b841ca	Agglomerative hierarchical cluster analysis showed that total DEMSS scores largely differentiated clusters of children with @DISEASE$ vs. mild CAS vs. other @PHENOTYPICFEATURE$.	has_symptom
+e1bf285a250fbbab35437dd31d0e5bcfc6e67acb	Comparing literacy skills in @DISEASE$ with other developmental @PHENOTYPICFEATURE$ is critical for understanding the complexity of the disorder.	has_symptom
+f6f52e9554612f2ff8a8d7d77c4f9c36f98f6506	Conclusion These results suggest that CAS, which is more generally considered a motor @PHENOTYPICFEATURE$, may have a perceptual component of @DISEASE$ related to vowel duration discrimination.	has_symptom
+b35a2e5920f4cfd2f48dca75b2b91b9dd6563ffd	Conclusion These results suggest that @DISEASE$, which is more generally considered a motor @PHENOTYPICFEATURE$, may have a perceptual component of CAS related to vowel duration discrimination.	has_symptom
+87af80715f9bc825877f4e1c90ed97b35046d6b0	Childhood apraxia of speech (@DISEASE$) is a debilitating pediatric @PHENOTYPICFEATURE$ characterized by varying symptom profiles, comorbid deficits, and limited response to intervention.	has_symptom
+019c7e40fb6c39f559451499cfcfae3de3622698	This study compared the phonological awareness and reading development of children with @DISEASE$ and children with inconsistent @PHENOTYPICFEATURE$ (ISD).	has_symptom
+aa0de060755081dda75ad2996bf20e46c41d06db	@DISEASE$ is the @PHENOTYPICFEATURE$ identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task.	has_symptom
+d1d5f9c0ead4583d28c41b9330876a6eda9c20c7	CAS is the @PHENOTYPICFEATURE$ identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with @DISEASE$, oromotor apraxia, and low scores on a nonword repetition task.	has_symptom
+90eac8e77bc6b901a1814bff655c0cc2287eb3fd	Three children, two diagnosed with @DISEASE$ and one not diagnosed with a motor @PHENOTYPICFEATURE$, had vocal tremors.	has_symptom
+046dd3e2754743295df5bd5908efbb318a0c01c5	Childhood apraxia of speech (@DISEASE$) is a rare, severe, persistent pediatric motor @PHENOTYPICFEATURE$ with associated deficits in sensorimotor, cognitive, language, learning and affective processes.	has_symptom
+209d8aab10d311c882bb017fd75bec3c294e5cd9	These findings imply that children with suspected @DISEASE$ may present with differences in sensory processing in addition to @PHENOTYPICFEATURE$.	has_symptom
+8198738a9e6f7d7f971acd64e9e19d8ba5c5283a	Childhood apraxia of speech (@DISEASE$) is a proposed @PHENOTYPICFEATURE$ subtype that interferes with motor planning and/or programming, affecting prosody in many cases.	has_symptom
+dc531bd36d52df0776409899e21d043f9797ebaf	Those infants affected most severely may have hypoxic @PHENOTYPICFEATURE$, seizures and @DISEASE$.	has_symptom
+d9c4f4ce15e3d613c5ed0411bdb8b1cbac34fe6d	Those infants affected most severely may have hypoxic @DISEASE$, @PHENOTYPICFEATURE$ and meconium aspiration syndrome.	false
+b9246d3fa23642b64b367c750d00bb609a72f37a	Those infants affected most severely may have hypoxic encephalopathy, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4dd0e114d55c7dc96e6412a46ec8ec25b9153a6d	Vagally mediated @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+4a243e343f085490e231ce4cd18a72f612cc1ad6	[Analysis of risk factors of @PHENOTYPICFEATURE$ in patients with @DISEASE$].	has_symptom
+84738f447d2451ac087efe7e5c03ea1afa611889	@PHENOTYPICFEATURE$ induced by sodium channel blocker in patients with @DISEASE$.	has_symptom
+0ac7a524dc0a1f43527efecaa2b688487bea3b8c	Use of implantable loop recorders in patients with @DISEASE$ and suspected risk of @PHENOTYPICFEATURE$.	has_symptom
+296709ac2037d6f22ee129484c7480df6134954e	@PHENOTYPICFEATURE$ occurrence during exercise is reported in @DISEASE$ (BrS).	has_symptom
+9fc448a5cc973f8fb8e659daad745eea0a4705b4	@PHENOTYPICFEATURE$ during ajmaline challenge for the @DISEASE$.	has_symptom
+c9982866aa96a5d45b030fe64c9a2fe5d5e990fb	A review of the mechanisms of @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+8ac3506de1b696cb8589b27a61d1848e39866351	@DISEASE$ (BrS) is a rare heritable @PHENOTYPICFEATURE$.	has_symptom
+dfa0121b686c2cdf8cbdd12b4e4d5463c7f796d1	The long-QT and @DISEASE$ are important substrates of malignant @PHENOTYPICFEATURE$.	has_symptom
+0a501f9b496edeb759a5cd5fd67a42b88edb41c2	Low-dose isoproterenol for repetitive @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+68b9104949d5b0ef03c5e69d13320a6916ee220c	To define the mutation type in a clinically suspected Egyptian child with @DISEASE$ (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with @PHENOTYPICFEATURE$, long philtrum, small pinched nose and pursed mouth.	has_symptom
+4a3581dc0d3807905855d4d3e887e8ca7c477e79	To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, @PHENOTYPICFEATURE$, while the facial characteristics include deep-sunken eyes with @DISEASE$, long philtrum, small pinched nose and pursed mouth.	false
+2682c9dd5dec8e23d03450eb322aac385a5fda5c	To define the mutation type in a clinically suspected Egyptian child with @DISEASE$ (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, @PHENOTYPICFEATURE$, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth.	false
+028d14b0765abfdb65c0b11ae71e629e978c0479	On the incidence of fits and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+389aa6417618225f2f8ea829635a0b5f87be4911	@PHENOTYPICFEATURE$ in @DISEASE$: better data better prediction.	has_symptom
+61ee78d8e4e1838c9f417f1467864570ef4fe1b3	Autism and @PHENOTYPICFEATURE$ with convulsion in @DISEASE$: a case report.	has_symptom
+17d56d9b708a751f7dae57b3c4ca8c202072043d	@PHENOTYPICFEATURE$ and @DISEASE$ with convulsion in tuberous sclerosis: a case report.	false
+c4bc1b9f79aeae1de41725fce85ffe9a9cfe75d9	@PHENOTYPICFEATURE$ and mental retardation with convulsion in @DISEASE$: a case report.	false
+db547f9f8b79c7fe9e02a015e55376fa5bf5b60b	@DISEASE$ is characterized by epilepsy, @PHENOTYPICFEATURE$, and adenoma sebaceum.	has_symptom
+287cc0ba5a09777a0e1dc092febdbf92acd19582	@DISEASE$ is associated with seizures and @PHENOTYPICFEATURE$.	has_symptom
+4d258963982c089a85074349232133d603e2a8c6	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+106f93652536a78dee7b9da84b7323b1e1c467e3	Tuberous sclerosis is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cf5fff0c69697b867d4353ae810d2efb4310225e	Her past medical history was significant for @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+48248513ef185d92bd3dd3d2a2c9dc247b2bfd4f	@PHENOTYPICFEATURE$ was present in 57% of individuals with @DISEASE$ (TSC).	has_symptom
+c54a36faa769605dbd707d3f8e5dcf7b268ee150	Prognostic factors for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+25c2f421896e2f44aa2662bd247bc7c7524ed782	@DISEASE$ is characterized by epilepsy, @PHENOTYPICFEATURE$ and adenoma sebaceum.	has_symptom
+0be6d1e371d96b3972bd2a299fffcf161727ecf3	Psychotic episodes and epilepsy can occur without @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+faf715ee53e62756831401acb18193ae3226d205	The cutaneous manifestations of @DISEASE$ are thought to be the result of the Koebner phenomenon, vasculopathy, or photosensitivity; manifestations include various eruptions, such as heliotrope rush, Gottron's sign, Gottron's papules, mechanic's hand, nail-fold bleeding, @PHENOTYPICFEATURE$, vasculitis, flagellate erythema, V-sign, and Shawl sign.	has_symptom
+daec2f83be04fb63d7826b1dba9fb6842a6893b9	@DISEASE$ confers risk for hypoketotic hypoglycaemia, hepatic encephalopathy, @PHENOTYPICFEATURE$, and sudden unexpected death in infancy (SUDI).	has_symptom
+2bf7f5dea813b7408adf19c898655dee86a6ae24	@DISEASE$ confers risk for hypoketotic @PHENOTYPICFEATURE$, hepatic encephalopathy, seizures, and sudden unexpected death in infancy (SUDI).	false
+0f44f8eddece51e2320805c96e2fdb685bfd35df	CPT1A deficiency confers risk for hypoketotic @PHENOTYPICFEATURE$, hepatic encephalopathy, @DISEASE$, and sudden unexpected death in infancy (SUDI).	false
+3885546e227d2c23212fec8f22d3aa5502c7a54e	CPT1A deficiency confers risk for hypoketotic @PHENOTYPICFEATURE$, @DISEASE$, seizures, and sudden unexpected death in infancy (SUDI).	false
+c34559e87de1df78655a7511eb824a1facaa2317	Reported patients with @DISEASE$ lack activity of the hepatic isoform and present before 30 months of age with hypoketotic hypoglycaemia, hepatomegaly with raised transaminases, @PHENOTYPICFEATURE$ and coma.	has_symptom
+46f161684e12b5b3a55c1bc7f2e46b020d9d94a3	Reported patients with @DISEASE$ lack activity of the hepatic isoform and present before 30 months of age with hypoketotic @PHENOTYPICFEATURE$, hepatomegaly with raised transaminases, seizures and coma.	false
+2601a736318b5447d3362e97cf98baca798c4ca5	Reported patients with CPT I deficiency lack activity of the hepatic isoform and present before 30 months of age with hypoketotic @PHENOTYPICFEATURE$, hepatomegaly with raised transaminases, @DISEASE$ and coma.	false
+23219724c5fbfd88503de9ab3a983c887e912504	@DISEASE$ is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked @PHENOTYPICFEATURE$.	has_symptom
+653e42835939aca5c5d7f68ac80f79e35532b5a0	Generalized dry scaly lesions with erythema, along with @PHENOTYPICFEATURE$ of the palms and the soles, suggestive of @DISEASE$ were present.	has_symptom
+ab40a9230f4c407dcb53b5c1f66f8af7b42f4467	Biopsy specimens taken at the age of 2 weeks were typical for @DISEASE$ and showed @PHENOTYPICFEATURE$ with focal parakeratosis, a thickened stratum granulosum in which the cellular content of keratohyalin and tonofibrils was moderately diminished, and acanthosis with increased mitotic activity.	has_symptom
+067dd06a88367035524c0b4260a694dbe9ae51a8	@DISEASE$ (LI) is a genetically heterogeneous, severe genodermatosis showing widespread @PHENOTYPICFEATURE$ of the skin.	has_symptom
+93aebbc36e10e8bf3bd5f974610bf3f23ff6a257	Surprisingly, mice with enhanced Nrf2 activity in keratinocytes developed epidermal thickening, @PHENOTYPICFEATURE$ and inflammation resembling @DISEASE$.	has_symptom
+2645b1fec043c67ff10620c7da38dee313165bd3	Histologic examination of @DISEASE$ revealed @PHENOTYPICFEATURE$; psoriasiform acanthosis; dilated, tortuous capillaries; and a slight perivascular lymphocytic infiltrate.	has_symptom
+686999b333c865664fd547bc47b58ecd89cfd40c	Patients with @DISEASE$ had a lower chance for achieving @PHENOTYPICFEATURE$ freedom (7/15) than in patients with isolated FCD (FCD types I and II) (40/54, p=0.044).	has_symptom
+ccc562a95a8572158d4c70bbadcf761d554b3518	Patients with FCD type IIb had earlier @PHENOTYPICFEATURE$ onset compared with those with @DISEASE$.	has_symptom
+758906ce5d88758a4c34bfbe433ed5d899a789c9	Intracytoplasmic retention of KCC2 is evident in dysmorphic neurons in the majority of FCD type II subjects (5/7) but not in FCD type I. Our study suggests that (1) "broad" GABAergic deficiency may reflect epileptic vulnerability outside the dysplastic area; and (2) abnormal distribution of KCC2 may contribute to @PHENOTYPICFEATURE$ generation in patients with @DISEASE$ but not in type I.	has_symptom
+c3839254cee949a763a5e18265f9a000424f84b2	Intracytoplasmic retention of KCC2 is evident in dysmorphic neurons in the majority of @DISEASE$ subjects (5/7) but not in FCD type I. Our study suggests that (1) "broad" GABAergic deficiency may reflect epileptic vulnerability outside the dysplastic area; and (2) abnormal distribution of KCC2 may contribute to @PHENOTYPICFEATURE$ generation in patients with FCD type II but not in type I.	has_symptom
+474fb1fc1a1c64d7ed5260c1da7aa0e6636e3aec	Similarities in @PHENOTYPICFEATURE$ outcome and immunohistochemical and molecular evidences, shared by @DISEASE$+EATs and EATs, suggest a common pathogenic link.	has_symptom
+39127e4f0fc7856e31ad0f1aa97c78446455447b	These findings indicate a reduction of myelinated axons in the WM of @DISEASE$ rather than dysmyelination as the primary pathologic process underlying WM abnormalities, possibly influenced by duration of @PHENOTYPICFEATURE$.	has_symptom
+22e727304a278dfe4935c2da2b0ee150352ee6ec	Dynamic preictal relations in @DISEASE$: potential for early @PHENOTYPICFEATURE$ detection in focal epilepsy.	has_symptom
+8a084989da0468eb2c0b41f6d1c7342d251d3683	Toward @PHENOTYPICFEATURE$ onset, PSS power increased in all areas, predominantly within SOZ, and became confined into SOZ in a subset of @DISEASE$ patients.	has_symptom
+aadbdbb0dd2cdea33b20bb7f05ba3728459d883a	@DISEASE$ may play a major epileptogenic role in SWS and complete resection of the associated FCD should be considered a prognostic key factor to achieve @PHENOTYPICFEATURE$ control.	has_symptom
+1c5cd2080ac801ecb46d4c49a95dcdd9d74864a8	Abnormal cortical layering, overall, represents the kind of FCD more commonly associated with @PHENOTYPICFEATURE$-related low-grade tumors, whereas @DISEASE$ is more frequently associated with GG.	has_symptom
+07cc44a7a14a558096690739f755fb66b572aa29	Abnormal cortical layering, overall, represents the kind of @DISEASE$ more commonly associated with seizure-related low-grade @PHENOTYPICFEATURE$, whereas FCD type II is more frequently associated with GG.	false
+9838c8d82e1d59db83777fc71189c9a94c33265b	Abnormal cortical layering, overall, represents the kind of FCD more commonly associated with @DISEASE$-related low-grade @PHENOTYPICFEATURE$, whereas FCD type II is more frequently associated with GG.	false
+d833e0bb203806c01e3c1f4a628dcbd4f06852d1	Abnormal cortical layering, overall, represents the kind of FCD more commonly associated with seizure-related low-grade @PHENOTYPICFEATURE$, whereas @DISEASE$ is more frequently associated with GG.	false
+57c953134845d992dbf7e29b4c3751936eb31030	Acrocephalosyndactyly with @PHENOTYPICFEATURE$ and @DISEASE$ in a Nigerian child.	has_symptom
+309eed557ee96de2f0426c61c1af3a98464830ab	A rare case of @DISEASE$ and @PHENOTYPICFEATURE$ in a patient with acrocephalosyndactyly is reported.	has_symptom
+93de3653ded10ea0a78a187f00b01ece459e0dd9	We found an association of EA and TEF/EA with @DISEASE$ (3.1% of cases), and confirmed the association of primary @PHENOTYPICFEATURE$ with TEF and TEF/EA (2.7% of cases).	has_symptom
+012b1c8a542b98977061f31ded3cd2d6ba68218e	We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of @PHENOTYPICFEATURE$, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, fibrous dysplasia, and @DISEASE$.	has_symptom
+a3530e1df4d147360ee484862130d49f41d47a4e	In the other 39% of patients, diagnosis of @DISEASE$ followed the development of a solid @PHENOTYPICFEATURE$.	has_symptom
+cc6d62d893ff4e342aa14bc0abcedbf162e21c1a	@DISEASE$ is a neutrophilic infiltration of the papillary dermis, which may be associated with the presence of unknown malignancies, either haematological or solid @PHENOTYPICFEATURE$, in 1 out of 5 cases, being considered then as a paraneoplastic syndrome.	has_symptom
+2a399688069d198bc04f1f7227eb10e9ed8eb37f	@DISEASE$ in patients with solid @PHENOTYPICFEATURE$.	has_symptom
+5446c854b0e5100e300d44b448a05cce6469b61c	The search for a neoplasm of the genitourinary organs and breast cancer in women and a gastrointestinal tract carcinoma in men should be emphasized in the evaluation for a solid @PHENOTYPICFEATURE$ in patients with @DISEASE$ without a prior diagnosis of malignancy.	has_symptom
+1808ed5b57aa6e3b77701dd63e870c4bb458229e	The non-infectious pulmonary complications of myelodysplastic syndromes and chronic myeloproliferative disorders can be classified into several clinical entities: @PHENOTYPICFEATURE$ syndrome, pulmonary fibrosis or diffuse infiltrating pneumonia, autoimmune reactions including vasculitis, @DISEASE$, organizing pneumonia, pulmonary alveolar proteinosis, pleural effusion and pulmonary arterial hypertension.	has_symptom
+c32e269d2a3d17f319d49c9fdd7fc168d7477255	A 13-year-old boy with @DISEASE$ and a successful renal allograft developed symptomatic bone disease, hypercalcemia, and @PHENOTYPICFEATURE$.	has_symptom
+6b28af5a0c562b76a832655446965a7787ee1419	A 13-year-old boy with primary hyperoxaluria and a successful renal allograft developed symptomatic @DISEASE$, @PHENOTYPICFEATURE$, and hypercalciuria.	false
+0f3bdaca338ade374a8cc51317e2a490c63bd4aa	A 13-year-old boy with @DISEASE$ and a successful renal allograft developed symptomatic bone disease, @PHENOTYPICFEATURE$, and hypercalciuria.	false
+77a29d29d699d05b24d29c2bb9f38e82fac1afea	A 13-year-old boy with primary hyperoxaluria and a successful renal allograft developed symptomatic bone disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f00801c5cc101f6a5b2f9f9504a65b79bd22afbe	Namely, Dents syndrome, calcium sensing receptor mutations, familial hypopomagnesiemic @PHENOTYPICFEATURE$ (FHHNC), hypophosphatemic rickets (HHRH), renal tubular acidosis (dRTA), @DISEASE$ (PH), cystinuria, 2-8 dihydroxyadeninuria (2-8 DHA).	has_symptom
+c82b2a72948307d78c79fc4304dbeb1371380922	Progressive disease occurred mainly in patients having cystinosis, @DISEASE$, the syndrome of hypomagnesaemia/@PHENOTYPICFEATURE$, primary Fanconi syndrome, Fanconi-Bickel syndrome, and methylmalonic aciduria.	has_symptom
+450350cbcfa7072903ba82356cf9264879ce5731	Idiopathic @PHENOTYPICFEATURE$, Bartter's syndrome and renal tubular acidosis cause medullary nephrocalcinosis, whereas cortical nephrocalcinosis is the result of renal vein thrombosis; @DISEASE$ is associated with cortico-medullary calcifications.	has_symptom
+5a8349f27ce3b4aaec160a132b678fc0a3bc1b22	[Surgical treatment of @DISEASE$ and @PHENOTYPICFEATURE$].	has_symptom
+8e0ed3fda1e60b1bda738a448f019398273f9a89	@DISEASE$; the significance of @PHENOTYPICFEATURE$.	has_symptom
+855b579789bbe14c4120d4bc7b5b7a81cb02ac60	Patient diagnoses included facial clefts, @PHENOTYPICFEATURE$, Treacher Collins syndrome, and @DISEASE$ (Crouzon's and Apert's syndromes).	has_symptom
+855b579789bbe14c4120d4bc7b5b7a81cb02ac60	Patient diagnoses included facial clefts, @PHENOTYPICFEATURE$, Treacher Collins syndrome, and @DISEASE$ (Crouzon's and Apert's syndromes).	has_symptom
+893399c34487df2c6e4d0abb78a3dc1bb4029847	Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and @PHENOTYPICFEATURE$ are the characteristic features of @DISEASE$.	has_symptom
+9af4c78769f9fc95c3474f07345b8996a592a969	Craniosynostosis, maxillary hypoplasia, shallow orbits, @PHENOTYPICFEATURE$ and @DISEASE$ are the characteristic features of Crouzon syndrome.	false
+83bbdea65346f5f9f50995fa12477e3071595753	Craniosynostosis, maxillary hypoplasia, shallow orbits, @PHENOTYPICFEATURE$ and hypertelorism are the characteristic features of @DISEASE$.	false
+43d107eac227694539ed30c6fda8cdddaa471a9e	[@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+36ba21abe280e0c46c81959b8ebf71980a78eb14	In @DISEASE$ the @PHENOTYPICFEATURE$ was identified at 19.9 weeks.	has_symptom
+e344cf3939c74376112d5541416434d169423d9f	Usually, patients suffering from @DISEASE$ have synostosis of coronal sutures, exophthalmia, @PHENOTYPICFEATURE$, and hypoplasia of the middle third of face.	has_symptom
+d9323549ed4c201057b1399f754020f05ca1624b	Facial deformity in @DISEASE$ is characterized by exophthalmos, exorbitism, mild @PHENOTYPICFEATURE$, and maxillary hypoplasia with a Class III occlusion.	has_symptom
+777ccdf00a963715b704df324dd55987d5e7f605	Contribution A/Pelc S, Bollaert A: [@DISEASE$ (@PHENOTYPICFEATURE$) coexisting with cerebral (commissural) malformations].	has_symptom
+e388a9b76aafb762af1903d77207614e377b8389	Congenital stapes malformation: Rare @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	has_symptom
+95a5cd9b4458ab3dac0dfc44fefcc613a0aac97e	However, middle ear abnormalities as causes of @PHENOTYPICFEATURE$ are not typically seen in @DISEASE$.	has_symptom
+33f62a14c2a71d3cf10e42fa0a690838f279a259	However, @PHENOTYPICFEATURE$ as causes of conductive hearing loss are not typically seen in @DISEASE$.	false
+b9a7c783a8e5c56849298772e82fba45a0c9caca	However, @PHENOTYPICFEATURE$ as causes of @DISEASE$ are not typically seen in Waardenburg syndrome.	false
+2bb2781653b59af2cbf418504c40ad4ee146aa3b	@DISEASE$ is clinically characterized by proteinuria and progression to @PHENOTYPICFEATURE$ and is caused by glomerular lipoprotein thrombi formation in association with increased levels of serum apolipoprotein E. The disease has a male predominance and can affect virtually any age group.	has_symptom
+85eb04d128d74196c610c3bf6fedadd2baf5ea81	Rarely, mutations in apolipoprotein E are associated with @DISEASE$, a condition characterized by progressive proteinuria and @PHENOTYPICFEATURE$ with varying degrees of plasma remnant accumulation.	has_symptom
+9e92b771d8252b3a8edf70814617de7d3670a0bf	@DISEASE$ (LPG) is a rare renal disorder that features glomerular capillary lipoprotein thrombi, proteinuria, and progressive @PHENOTYPICFEATURE$.	has_symptom
+76124d589046197e7aa591aa9c43c47701888f44	@DISEASE$ (LPG) is a hereditary disorder characterized by intraglomerular lipoprotein thrombi and increased serum apolipoprotein (apo) E. Patients with LPG usually manifest with nephrotic syndrome, and some progress to @PHENOTYPICFEATURE$; however, no effective therapeutic regimen has been established for this disease.	has_symptom
+c224ebe17e5ea906e1f0c7dd489f183f7b8c7611	Lipid abnormalities are associated with various disorders ranging from generalized atherosclerosis to renal diseases, including @DISEASE$ that is characterized by glomerular lipoprotein thrombi and causes type III hyperlipoproteinemia, proteinuria, and @PHENOTYPICFEATURE$.	has_symptom
+59ba1a260b6717d46fc68b71d13f4209c464af72	@DISEASE$ (LPG) is a unique renal disease characterized by intraglomerular lipoprotein thrombi associated with severe proteinuria and frequent progression to @PHENOTYPICFEATURE$.	has_symptom
+eabdf3c75954a398fb8f0d0afb2a8e85550213d9	This clinical report describes a case of pituitary gland duplication with a nasopharyngeal teratoma, @PHENOTYPICFEATURE$, and @DISEASE$, as well as the surgical management of this patient.	has_symptom
+63db60237f70d2c1d837b7ad30448b33a75b8764	The results indicate that familiarity was used at the same level by controls, patients with early @PHENOTYPICFEATURE$'s disease and patients with @DISEASE$.	has_symptom
+2f5ec425ccebcba8057c0a6e18037af17a6a0438	Parkinson's disease, @PHENOTYPICFEATURE$?+?dementia syndrome, drug-induced parkinsonism, vascular parkinsonism and @DISEASE$ were identified in, respectively, 19 (29.2%), 19 (29.2%), 8 (12.3%), 4 (6.1%) and 1 (1.5%) subjects.	has_symptom
+4ac12e9a563d42ea59f86def4d0576fb52ef52d2	@DISEASE$ ?/? is a severe, @PHENOTYPICFEATURE$ lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the ?/? subunits of the GlcNAc-phosphotransferase. To date, over 100 different mutations have been identified in MLII ?/? patients, but no large deletions have been reported.	has_symptom
+8c30ca6d8ab66e13e6c97383986b2a82599a83f2	Two affected members had thoracic aortic aneurysms, which in one member occurred with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+55c715a6b94f2ad58e82dc94afb082e8d729ae04	One such disorder, @DISEASE$ (WS), is a mendelian trait characterized by hypopigmentation and @PHENOTYPICFEATURE$.	has_symptom
+cbb853e0ed080cdeaf27b49b1c8fa1a0cf9cfd67	One such disorder, Waardenburg syndrome (WS), is a mendelian trait characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+da17af60f5f2c8d2b47fea4493ece57c97c14cc6	One such disorder, @DISEASE$ (WS), is a mendelian trait characterized by @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+1ef279dcee806cef2003946c4069ffdadef9726b	@DISEASE$ (WS) is a rare disorder characterized by distinctive facial features, pigment disturbances, and @PHENOTYPICFEATURE$.	has_symptom
+0ede457c8d202082ef59bc69166bec9ef645a7df	This study aimed to determine the feasibility of cochlear implantation for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+b51f6fdac00e87a873d68bde38588b3e5cc6faa7	@PHENOTYPICFEATURE$, distinctive facial features, and abnormal cranial bones: a new variant of @DISEASE$?	has_symptom
+30502a544109438f4a8737dd64a6fe3a65b9d151	@DISEASE$ (WS) is a rare disorder comprising @PHENOTYPICFEATURE$ and pigmentation abnormalities.	has_symptom
+c48f59aab749ece959437b0acd96f4f88e78dfac	A profound @PHENOTYPICFEATURE$ was characteristic of the study population with @DISEASE$.	has_symptom
+b89218f2eb870950e1ce081dd9d27e845645644b	@DISEASE$ is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and pigmentary disturbances.	has_symptom
+0a308997c403191b4623f089235bd43b8b27d9ad	@DISEASE$ (WS) is a neurocristopathy disorder combining @PHENOTYPICFEATURE$ and pigmentary abnormalities.	has_symptom
+6ff52b7287c78616a791b78827a2a19374511081	@DISEASE$ (WS) is a rare disease characterized by @PHENOTYPICFEATURE$ and pigment disturbance.	has_symptom
+081926af8349aae332800c2feb1270ab4a504ac4	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$ in association with pigmentary defects.	has_symptom
+030ad41b01028ffa724c4843654749389abe1a98	This report emphasizes the genetic basis of @PHENOTYPICFEATURE$ related to @DISEASE$ and OSA in children.	has_symptom
+89cceffe12e83da9b55e017ef5a790123fb59593	Although amylin's acute anorexigenic effects are somewhat blunted in @DISEASE$ and those of MC-4R agonism in amylin deficiency, these effects are surmountable with pharmacological administration lending therapeutic potential to combined amylin/melanocortin agonism for @PHENOTYPICFEATURE$.	has_symptom
+4dc7408d8c46910a656ad4cb554aa23565c2dc10	@DISEASE$ (Mc4rKO) mice are severely obese but lack @PHENOTYPICFEATURE$-related hypertension; they also show a reduced pressor response to salt loading.	has_symptom
+043395fe51b0e7d5fb3cd8321312e6e16e129c02	These diseases range from monogenetic causes of @PHENOTYPICFEATURE$ (leptin deficiency, @DISEASE$, Bardet-Biedl syndrome and others) to complex neurodevelopmental disorders (Prader-Willi syndrome and Sim1 deficiency) and neurodegenerative conditions (frontotemporal dementia and Gourmand's syndrome) and serve to highlight the central regulatory mechanisms which have evolved to maintain energy homeostasis.	has_symptom
+67cca2838bfef168b71307589795296a543be303	Combined with its ability to reach the central nervous system and its selectivity for the MC4R, this pharmacological chaperone may represent a candidate for the development of a targeted therapy suitable for a large subset of patients with @DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+8fb45b3160946f4624b6fd117f92da7c603258d2	We also found that @DISEASE$ was associated with impaired ventilatory responses to hypercapnia independently of @PHENOTYPICFEATURE$.	has_symptom
+b1798f21094d95c14cc9a3df17caf60d409c31da	Z-scores of HC for age, and HC to height ratio were calculated for 13 children with hypochondroplasia, and 90 with @DISEASE$, both conditions associated with @PHENOTYPICFEATURE$.	has_symptom
+9a762866f96a4aabe05e60612d50ab87bb4a1004	@DISEASE$ is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and @PHENOTYPICFEATURE$.	has_symptom
+2f92a1db82bc68368cdc50a3653aaf417bc72fb0	Achondroplasia is an @DISEASE$ which is characterized by @PHENOTYPICFEATURE$ and narrow trunk, and macrocephaly.	false
+f09c6cb1f04547c613d398a4b9ec99c41b19bdc1	@DISEASE$ is an autosomal dominant disease which is characterized by @PHENOTYPICFEATURE$ and narrow trunk, and macrocephaly.	false
+1fb819c7525e891681aa55231b4dee42c88c928c	Achondroplasia is an autosomal dominant disease which is characterized by @PHENOTYPICFEATURE$ and narrow trunk, and @DISEASE$.	false
+01e141d304e764874f9282a14a2c8f991f291f2c	@DISEASE$ is the most common hereditary form of dwarfism, and is characterized by short stature, @PHENOTYPICFEATURE$, and a myriad of skeletal abnormalities.	has_symptom
+e44c52c23301797ff38adcb590d3699f1a1d1fdf	@DISEASE$ is the most common hereditary form of dwarfism, and is characterized by short stature, macrocephaly, and a myriad of @PHENOTYPICFEATURE$.	false
+9f8ec70349cd2e25e64179f5936ab5b4b4cd6ae8	Achondroplasia is the most common hereditary form of dwarfism, and is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and a myriad of skeletal abnormalities.	false
+249f92a0b928c5c37383304e9b1fe9408620adfa	@DISEASE$ is the most common hereditary form of dwarfism, and is characterized by @PHENOTYPICFEATURE$, macrocephaly, and a myriad of skeletal abnormalities.	false
+3c6886f0f82775e685331f69c2bf33dadc7efb0d	Achondroplasia is the most common hereditary form of dwarfism, and is characterized by short stature, @DISEASE$, and a myriad of @PHENOTYPICFEATURE$.	false
+35ebc82d28d57562fc29cf9692df6979543f2201	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including short stature, shortened limb bones, @PHENOTYPICFEATURE$, and small vertebral bodies.	has_symptom
+3524f22b67c6ed781430f02d7c668d17d899b1f3	Achondroplasia is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including short stature, @PHENOTYPICFEATURE$ bones, @DISEASE$, and small vertebral bodies.	false
+33b59790cfe12bf527f0c2d899dcc5bd6c943ad7	Achondroplasia is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including @PHENOTYPICFEATURE$, shortened limb bones, @DISEASE$, and small vertebral bodies.	false
+f73f4109fe79bbecb3ef21092e577a3066f71e7c	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including @PHENOTYPICFEATURE$, shortened limb bones, macrocephaly, and small vertebral bodies.	false
+fe1d8ec1183607b861bde8369bbdb399d0b5c51d	Achondroplasia is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in @PHENOTYPICFEATURE$ including short stature, shortened limb bones, @DISEASE$, and small vertebral bodies.	false
+b2dc507f41fc00ecfe7c43bcf2b3af0e885e47f6	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in @PHENOTYPICFEATURE$ including short stature, shortened limb bones, macrocephaly, and small vertebral bodies.	false
+51fde1ba081cd061479982a0d8bb7b481f441907	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in skeletal abnormalities including short stature, @PHENOTYPICFEATURE$ bones, macrocephaly, and small vertebral bodies.	false
+22e25ec3721bdc8bbbbdf9c225381c361e69aba0	The clinical and radiological features of @DISEASE$ can easily be identified; they include disproportionate short stature with rhizomelic shortening, @PHENOTYPICFEATURE$ with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration.	has_symptom
+0d803bd1fb623662295a4a2daa92a0b5bea74be1	The clinical and radiological features of @DISEASE$ can easily be identified; they include @PHENOTYPICFEATURE$ with rhizomelic shortening, macrocephaly with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration.	false
+169e0313a33af69545b729d7447ddcc0397047ae	The clinical and radiological features of achondroplasia can easily be identified; they include @PHENOTYPICFEATURE$ with rhizomelic shortening, @DISEASE$ with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration.	false
+85dc7a61bb744b831f4cd187319f725643d576fa	However, when the copy number of the mutant allele increased from one (Fgfr3(TD/+) to two (Fgfr3(TD/TD), the retardation of bone growth became more severe and showed phenotypes resembling those of @DISEASE$ patients, characterized by a dramatically reduced proliferation of growth plate cartilage, @PHENOTYPICFEATURE$ and shortening of the long bones, which was most pronounced in the femur.	has_symptom
+ff426fac5ccf98cedd3e6a136c354d4f29ffae90	Deficiency of OCRL1, which is enriched in the brain, leads to neurological defects similar to those reported in @DISEASE$ patients, namely increased susceptibility to heat-induced @PHENOTYPICFEATURE$ and cystic brain lesions.	has_symptom
+9820d616995b6c424f387ab3442f26bde273bdff	In monitoring the disease, the manifestation of the @PHENOTYPICFEATURE$ as atonic seizures accompanied by focally initiated secondary generalized epileptic discharges is a finding previously undefined in @DISEASE$.	has_symptom
+752362e6d2478bcd7cc9735869635af0f142e694	This case of a 9-year-old patient, diagnosed as having and followed for @DISEASE$, has been presented for his @PHENOTYPICFEATURE$, which were initially myoclonic but subsequently atonic, and for his skin findings, understood to be trichoepithelioma, cystic in nature, and stemming from mature hair follicles.	has_symptom
+de51fbace346401beac3b96600ae123683de249f	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (GEFS +), severe myoclonic epilepsy in infancy (SMEI), intractable childhood epilepsy with @PHENOTYPICFEATURE$ (ICEGTC), and @DISEASE$ (BFNIS).	has_symptom
+2e9b60ca311ac4a361db083629464be2c981c580	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and @DISEASE$ (BFNIS).	false
+4710734bcb1a1909cfe4a36ad11a46ccac123bb1	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with @DISEASE$ (ICEGTC), and benign familial neonatal-infantile seizures (BFNIS).	false
+403db859de5130dc9c051ccf9d3f2267c4f3a8f5	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including @DISEASE$ (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and benign familial neonatal-infantile seizures (BFNIS).	false
+ac26151b9e6076445d36b2d165bae09a4076750c	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, @PHENOTYPICFEATURE$ and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	has_symptom
+9e1bbe2be2ca9e36b417e6edafd03311d2d9fe1d	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, @PHENOTYPICFEATURE$, encephalomyelitis, @DISEASE$ and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+a0cb612c57f0d633d4aa0157a87aec9bad18e568	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @PHENOTYPICFEATURE$, hydrocephalus, encephalomyelitis, @DISEASE$ and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+0e3dd71d2a832a5f9a16162c3b027d41b8aadbe1	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @PHENOTYPICFEATURE$, hydrocephalus, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+9388b413eafd5dee65843dce7806a03da1a6dbe9	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as @PHENOTYPICFEATURE$, hydrocephalus, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, @DISEASE$, erythroblastosis, thrombopenia.	false
+63ddd157cc991156378069a1a34d22eb640d5788	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, seizures and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+28d25b140c3b8bbc28df7477607dc91a90e958f9	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, @DISEASE$ and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+059203f382081a7ea5700ba4dae0eda339265b5c	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, @PHENOTYPICFEATURE$, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, @DISEASE$, erythroblastosis, thrombopenia.	false
+7f082fc583db189b7641a590351d812dcbb8a27a	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, @PHENOTYPICFEATURE$, encephalomyelitis, seizures and mental retardation), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+8ee2105fc5637649e0ce13c305d2b77091480d86	Clinical findings in patients with congenital toxoplasmosis may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, seizures and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, @DISEASE$, erythroblastosis, thrombopenia.	false
+3e66659f9738a9e7d6174320b9796eae0e3f0b1b	@PHENOTYPICFEATURE$ can have many genetic causes among which are the @DISEASE$ (CDG-I).	has_symptom
+d1b0f53827bc2c6aebab45e637594fdfa8e62a1d	Screening of @DISEASE$, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to @PHENOTYPICFEATURE$ Chinese children.	has_symptom
+1b90e9f9c4c8bfd331218dd08c16fc7a8984fd72	@DISEASE$ may result in @PHENOTYPICFEATURE$ if this condition is not diagnosed in the neonatal period.	has_symptom
+75c60a0474c1bc22abd7a72c456a39c3ba313c9d	In our opinion the best clinical results are obtained with screening for @DISEASE$ and for PKU, since very early detection and treatment in these diseases prevents @PHENOTYPICFEATURE$.	has_symptom
+a980b9903babe016d24a3ccc0b51bed6cb29e368	ME cretins are born without a functioning thyroid; their @DISEASE$ leads to severe dwarfism and reduced brain size, but less @PHENOTYPICFEATURE$ and motor disability than neurological endemic cretins.	has_symptom
+db33f01281de3a7e9950d1c9b92ccd86f7bc946b	This is the first report of siblings exhibiting stigmata of @DISEASE$ and @PHENOTYPICFEATURE$-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations.	has_symptom
+ef822b95e3f32b41c0a5199a44223e2a9e52b78b	Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause @DISEASE$ and @PHENOTYPICFEATURE$ hyperphosphatemia.	has_symptom
+94766105b0e6ef7bfda8a62e5fcf27c2d02bed08	Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause @DISEASE$ and hyperostosis @PHENOTYPICFEATURE$.	false
+085cd4fd6bf5353f77b529417dca9660f2670964	Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause familial tumoral calcinosis and @DISEASE$ @PHENOTYPICFEATURE$.	false
+a565c308870634df10c06b0cd4257ff8276c4e85	A new case of @DISEASE$ (FTC)/@PHENOTYPICFEATURE$-hyperphosphatemia syndrome (HHS) due to a novel compound heterozygous mutation in N-acetylgalactosaminyltransferase 3 (GALNT3) and with new phenotypic findings is presented.	has_symptom
+551933f8f2e7b5206690f8aa46bb09a60a4c4f0f	A new case of familial tumoral calcinosis (FTC)/@DISEASE$-@PHENOTYPICFEATURE$ syndrome (HHS) due to a novel compound heterozygous mutation in N-acetylgalactosaminyltransferase 3 (GALNT3) and with new phenotypic findings is presented.	false
+69b7b65709805f3fc8ada7b7328c7654c4870259	A new case of familial tumoral calcinosis (FTC)/hyperostosis-@PHENOTYPICFEATURE$ @DISEASE$ (HHS) due to a novel compound heterozygous mutation in N-acetylgalactosaminyltransferase 3 (GALNT3) and with new phenotypic findings is presented.	false
+3b7a30ff5179f1e6657019aa6dfa0285aca1e769	A new case of @DISEASE$ (FTC)/hyperostosis-@PHENOTYPICFEATURE$ syndrome (HHS) due to a novel compound heterozygous mutation in N-acetylgalactosaminyltransferase 3 (GALNT3) and with new phenotypic findings is presented.	false
+09c4219b8896b2d0ba57872bc9ae3e466494b0ee	@DISEASE$ and @PHENOTYPICFEATURE$-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.	has_symptom
+71e6ffe91a29175da5260184e9db854b78c765c6	Phenotypic and Genotypic Characterization and Treatment of a Cohort With @DISEASE$/@PHENOTYPICFEATURE$-Hyperphosphatemia Syndrome.	has_symptom
+64d9fe35193a067dbe966bbadfc727046e4b8f7e	Phenotypic and Genotypic Characterization and Treatment of a Cohort With @DISEASE$/Hyperostosis-@PHENOTYPICFEATURE$ Syndrome.	false
+a021ce29f249ebdba83fa8447b3b40abf2a233cf	Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/@DISEASE$-@PHENOTYPICFEATURE$ Syndrome.	false
+abd5fe8f7a061ee209d2ef388f1f431a3937f383	Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-@PHENOTYPICFEATURE$ @DISEASE$.	false
+088f568c71eb4d1898ee52c6571d7bc2783f98be	Identification of a recurrent mutation in GALNT3 demonstrates that @PHENOTYPICFEATURE$-hyperphosphatemia syndrome and @DISEASE$ are allelic disorders.	has_symptom
+f23828a1d3e3386655fcc3577c14a586435ad640	Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-@PHENOTYPICFEATURE$ @DISEASE$ and familial tumoral calcinosis are allelic disorders.	false
+af2fdd9dbe8891455827b867e67b60020788dea4	Identification of a recurrent mutation in GALNT3 demonstrates that @DISEASE$-@PHENOTYPICFEATURE$ syndrome and familial tumoral calcinosis are allelic disorders.	false
+d413ecd7b9cee54e4f5e44e6e02d17f2d7cf9e46	Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-@PHENOTYPICFEATURE$ syndrome and @DISEASE$ are allelic disorders.	false
+2435e1ae1e6a7b2ac3d42a63f6c4f8d26ea7a78d	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (@DISEASE$/@PHENOTYPICFEATURE$ hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	has_symptom
+0627dae8dd3356d1e586e73ac0992fc6cc28055e	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (@DISEASE$), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	false
+7498ea4331d83c46532c365f91277171771bb270	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (@DISEASE$).	false
+d85324b2669557df95a03971df21a4b1468367c3	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (@DISEASE$/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	false
+0ac602c8aaeb94be16b55a6ffd8482eda2d3e7d8	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis @PHENOTYPICFEATURE$ @DISEASE$, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	false
+b79f5c9db49fc6293753f1fe06a650eb9157b8d0	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/@DISEASE$ @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	false
+a8bacc514bc160aabddeab6b4cfe97885fdd719f	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and @DISEASE$), and bone resorption (Gorham-Stout disease).	false
+a5c6370c15924927cff04d4d786357094044d962	A case of @DISEASE$/@PHENOTYPICFEATURE$-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.	has_symptom
+09302648884c6ae6623f6ee81f1697a94c2c30f2	A case of familial tumoral calcinosis/hyperostosis-@PHENOTYPICFEATURE$ @DISEASE$ due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.	false
+a3d6fda2ab529cf5735c2ae8ae91533c46f58b59	A case of familial tumoral calcinosis/@DISEASE$-@PHENOTYPICFEATURE$ syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.	false
+61856c8d832c4d996b4f6a673ffd9d0dc4832fef	A case of @DISEASE$/hyperostosis-@PHENOTYPICFEATURE$ syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.	false
+5bef9209aef41f8a4ab6f0e44281b29555910551	Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human cancers, @DISEASE$ and @PHENOTYPICFEATURE$-hyperphosphatemia.	has_symptom
+5f2040bba4f48e525af07de19203291e3e64f3f3	Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human cancers, @DISEASE$ and hyperostosis-@PHENOTYPICFEATURE$.	false
+fb065124ffec3af7bdced835287aa700aa7e6a00	Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human @DISEASE$, familial tumoral calcinosis and hyperostosis-@PHENOTYPICFEATURE$.	false
+eeb92ff4d2dce83967b75ba0fd542210ae5d2bf5	Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in @DISEASE$, prominently including human cancers, familial tumoral calcinosis and hyperostosis-@PHENOTYPICFEATURE$.	false
+797567d0fde2dcf138da0517d2951cb51b079cac	Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human cancers, familial tumoral calcinosis and @DISEASE$-@PHENOTYPICFEATURE$.	false
+bcd632fd2da82373e2cb922fd056c17dffcca341	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the hyperphosphatemic disorder @DISEASE$/hyperphosphatemic @PHENOTYPICFEATURE$ syndrome.	has_symptom
+bc4868132603fe7387d638a8e7bdb8ab1c77cbd0	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the hyperphosphatemic disorder @DISEASE$/@PHENOTYPICFEATURE$ hyperostosis syndrome.	false
+7634898f458eb0084a4a7cda7bf57df815b25518	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the @DISEASE$ disorder familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperostosis syndrome.	false
+fbb56dd550b8ccb813d2a3dcc86de6e88afe04f2	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and @DISEASE$, whereas low iFGF23 levels are found in the hyperphosphatemic disorder familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperostosis syndrome.	false
+76e4ef4254b4ced1820901875d07d16a8967f897	Elevated iFGF23 levels are observed in a number of @DISEASE$ disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the hyperphosphatemic disorder familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperostosis syndrome.	false
+c774202400cfc00c56d4771cea66391badd564ac	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the hyperphosphatemic disorder familial tumoral calcinosis/@PHENOTYPICFEATURE$ @DISEASE$ syndrome.	false
+13078edc5d950289ed8dcaff7de29e60d5410a94	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of @DISEASE$, characterized by @PHENOTYPICFEATURE$, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published.	has_symptom
+d761f381d413112174f9b74152af14dc42538a3f	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, @DISEASE$, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+b5edb96e905295a48c43bb45b6de8edd3b73222c	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of @DISEASE$, characterized by microcephaly, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+7521b8018fe76a20b3ba8f43c45be6df6c9d9c48	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by @DISEASE$, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+2fa4531090963bdd689c95f321d6db9e527a2d77	The @DISEASE$ is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+f0864fd2770c433e9daeff0ebaede83286de26b6	The most common inherited form of @PHENOTYPICFEATURE$, X linked hydrocephalus (@DISEASE$), is characterised by mental retardation, adducted thumbs, and spastic paraplegia.	has_symptom
+83bae29e152d2d0ca1b5093a63cb0818b461ae1e	The most common inherited form of @PHENOTYPICFEATURE$, @DISEASE$ (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia.	has_symptom
+0b5329d781d5a7022c160c192f197411196c39a1	The most common inherited form of @DISEASE$, X linked hydrocephalus (HSAS), is characterised by @PHENOTYPICFEATURE$, adducted thumbs, and spastic paraplegia.	false
+83d2c4f98306acecac926b4a0e1b4913d1c56502	The most common inherited form of hydrocephalus, X linked hydrocephalus (@DISEASE$), is characterised by @PHENOTYPICFEATURE$, adducted thumbs, and spastic paraplegia.	false
+1f8dffba8d3ae42b8c484c998bcecd269f5cc0de	The most common inherited form of hydrocephalus, X linked hydrocephalus (HSAS), is characterised by @PHENOTYPICFEATURE$, adducted thumbs, and spastic @DISEASE$.	false
+9dbe45b0b94d4f29b254331751356e24bd4fba6e	The most common inherited form of hydrocephalus, @DISEASE$ (HSAS), is characterised by @PHENOTYPICFEATURE$, adducted thumbs, and spastic paraplegia.	false
+40096ba46a7ec176cff0e5e543df94223812bf5a	X-linked hydrocephalus (@DISEASE$) is the most common form of inherited hydrocephalus characterized by @PHENOTYPICFEATURE$ due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis.	has_symptom
+fb4618cecef2672c7712b6e11f1089e19a4c0746	X-linked hydrocephalus (@DISEASE$) is the most common form of inherited @PHENOTYPICFEATURE$ characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis.	has_symptom
+e146a030ddfae5869aae9dcfbb66a8fae90c9261	X-linked @PHENOTYPICFEATURE$ (@DISEASE$) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis.	has_symptom
+dde7451574d8501422d62935b8e9be46c7d8f9de	X-linked hydrocephalus (HSAS) is the most common form of inherited @DISEASE$ characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	false
+41317910b85d5d0cdc0f257402b8ad846d54a402	X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by @DISEASE$ due to stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	false
+ed8c173d2f6460bb9a3f9c1470a4cb164297619d	X-linked hydrocephalus (@DISEASE$) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	false
+cbe2845a9628fc66426bfd9e55b24edce7d53b7e	X-linked @DISEASE$ (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	false
+845b17ef388109d8fa54f502d3b2b9e51bbd85e4	X-linked recessive @PHENOTYPICFEATURE$ (@DISEASE$) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs.	has_symptom
+d98268fcbc24179cb459ccc8b709de1253e6d3a7	X-linked recessive hydrocephalus (@DISEASE$) occurs at a frequency of approximately 1 per 30,000 male births and consists of @PHENOTYPICFEATURE$, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs.	has_symptom
+a3b59cd7052c3a15a03279a00972486921af1212	X-linked recessive hydrocephalus (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of @DISEASE$, stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, spastic paraparesis, and clasped thumbs.	false
+c079c2ffe12620149238821d9686545e78190107	X-linked recessive @DISEASE$ (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, spastic paraparesis, and clasped thumbs.	false
+0ef840dc4937e9e21c296629d7250d1d1c5eac8d	X-linked recessive hydrocephalus (@DISEASE$) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, @PHENOTYPICFEATURE$, spastic paraparesis, and clasped thumbs.	false
+087777a020c132a9624b4426ce6d26895194b142	Spectrum of X-linked @PHENOTYPICFEATURE$ (@DISEASE$), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.	has_symptom
+73806f1b9968579ab444f6e9fc3c8e0d5cb9f63e	Prenatal diagnosis of @DISEASE$ is usually suggested on ultrasound examination showing @PHENOTYPICFEATURE$ in a male fetus associated with bilateral adducted thumbs.	has_symptom
+bae1b73e4bf2d5ccd92dfdbe9536223db17b582a	A missense mutation confirms the L1 defect in X-linked @PHENOTYPICFEATURE$ (@DISEASE$)	has_symptom
+02fd116b325953f5bf4ea9fcf4ecc7e9293af4d8	X-linked @PHENOTYPICFEATURE$ (@DISEASE$) is the most frequent genetic form of hydrocephalus.	has_symptom
+877035604de34f8df866e4643665a485fcf6018e	X-linked hydrocephalus (@DISEASE$) is the most frequent genetic form of @PHENOTYPICFEATURE$.	has_symptom
+5ba40eaaa963c36aff326ff694361a523ecfdf0a	The cases presented here are different from the cases of @PHENOTYPICFEATURE$ due to stenosis of the aqueduct Sylvius (@DISEASE$) and other types of X-linked hydrocephalus reported previously in terms of the age of onset, course, symptoms, and CT findings.	has_symptom
+85af303ed1e73be3aa471a3d4bb8f2e61c850c05	The cases presented here are different from the cases of hydrocephalus due to stenosis of the aqueduct Sylvius (@DISEASE$) and other types of X-linked @PHENOTYPICFEATURE$ reported previously in terms of the age of onset, course, symptoms, and CT findings.	has_symptom
+4f5095f1f7f7c7c12a0b57762905ba90d1329c93	Clinical symptoms of @DISEASE$ include @PHENOTYPICFEATURE$, mental retardation, clasped thumbs, and spastic paraparesis.	has_symptom
+6b1514d72ebde688fb6c030e956a4c38c28bc78f	Clinical symptoms of @DISEASE$ include hydrocephalus, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	false
+5fd40b692ccc5ee326b26467bc079a6fc82739e6	Clinical symptoms of HSAS include @DISEASE$, @PHENOTYPICFEATURE$, clasped thumbs, and spastic paraparesis.	false
+6c44ab72d8857e3ca286ffef312fff84a410d4e9	The here presented @DISEASE$ of sex-linked @PHENOTYPICFEATURE$ is caused by congenital aqueductal stenosis.	has_symptom
+7988df5b0265e901a6705a268802dea73fa57073	We describe two female infants with @DISEASE$ (mucopolysaccharidosis I) whose deaths are attributed to @PHENOTYPICFEATURE$ with associated, autopsy-confirmed endocardial fibroelastosis.	has_symptom
+ecdfc017500d95fe2b0318aa93c3c46876710004	@PHENOTYPICFEATURE$ may precede recognition of clinical and roentgenographic features of @DISEASE$.	has_symptom
+f577e5cf0daab68ebf13dd1ad82c6d95600abdf0	The oculocerebrorenal syndrome of Lowe (@DISEASE$) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	has_symptom
+4911bff493ddb13fa3f4248c873a461b5d3d223b	The @DISEASE$ (OCRL) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	has_symptom
+7063f30c2173bd0e576a744283bb6d4478fbb9b1	@DISEASE$ is in addition defined by a bilateral congenital cataract, @PHENOTYPICFEATURE$, and hypotonia.	has_symptom
+81ae12a4c50045f26bb017fe9a514e13ef59be8d	The Lowe oculocerebrorenal syndrome (@DISEASE$) is characterized by congenital cataract, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	has_symptom
+40b1b497809eaf237597cbea65f7e06f9131efd5	The @DISEASE$ (OCRL) is characterized by congenital cataract, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	has_symptom
+89d1771108cc775c23cd5acc482b986c32f1ef35	The oculocerebrorenal syndrome of Lowe (@DISEASE$) is a multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal Fanconi syndrome.	has_symptom
+c01231c86b309b8e9d950e12f1db97bf020576bb	The @DISEASE$ (OCRL) is a multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal Fanconi syndrome.	has_symptom
+78669932e10b6f379718102aa4563f022fcf2ee1	The oculocerebrorenal syndrome of Lowe (@DISEASE$) is a rare X-linked recessive disorder, chiefly characterized by ocular involvement, @PHENOTYPICFEATURE$, and kidney disease.	has_symptom
+374679d15f92203a817bbb34ce0b178683021ca0	The @DISEASE$ (OCRL) is a rare X-linked recessive disorder, chiefly characterized by ocular involvement, @PHENOTYPICFEATURE$, and kidney disease.	has_symptom
+39dba17ad06f77b1a7c2b3e8d052ae13091888ac	The @DISEASE$ (OCRL) is characterized by congenital cataract, @PHENOTYPICFEATURE$, and defective renal tubular function.	has_symptom
+04ee4664f8c0aa4adc4a02d0335dd1b1f5f193a0	The Lowe oculocerebrorenal syndrome (@DISEASE$) is characterized by congenital cataract, @PHENOTYPICFEATURE$, and defective renal tubular function.	has_symptom
+864d404e44fb230db3b539ee3dafae3d99df54b1	The oculocerebrorenal syndrome of Lowe (@DISEASE$) is a rare X-linked multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	has_symptom
+5d3181153a76abef35379868c05cab64e4b6f55d	The @DISEASE$ (OCRL) is a rare X-linked multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	has_symptom
+e9e562b86cf80eaf8da7d6dc05361f029fd3b9e1	Lowe syndrome, or @DISEASE$ (OCRL), is a rare X-chromosomal disorder characterized by renal dysfunction, congenital cataract, and, in the majority of cases, @PHENOTYPICFEATURE$.	has_symptom
+8f58595f76128b7f459f66eb51192c4ca1d02772	Lowe syndrome, or oculocerebrorenal syndrome of Lowe (@DISEASE$), is a rare X-chromosomal disorder characterized by renal dysfunction, congenital cataract, and, in the majority of cases, @PHENOTYPICFEATURE$.	has_symptom
+4d946257a1a2e1a809b37f8fc9a13dbcff170e73	@DISEASE$, or oculocerebrorenal syndrome of Lowe (OCRL), is a rare X-chromosomal disorder characterized by renal dysfunction, congenital cataract, and, in the majority of cases, @PHENOTYPICFEATURE$.	has_symptom
+4197935aaf6757fc04216e6f3645262726cb6364	A Hispanic girl with @DISEASE$ (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, @PHENOTYPICFEATURE$, and proteinuria, is reported.	has_symptom
+2e6faaa0581f4b9cc92e0eb622ab138d11021f11	A Hispanic girl with Lowe oculocerebrorenal syndrome (@DISEASE$), an X-linked recessive condition characterized by cataracts, glaucoma, @PHENOTYPICFEATURE$, and proteinuria, is reported.	has_symptom
+2519780a120578b2f705c62c29acba4d601b1524	A Hispanic girl with @DISEASE$ (OCRL), an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, glaucoma, mental retardation, and proteinuria, is reported.	false
+1a93a590a798c47d5cb18a7fbe29f884cd28d518	A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, glaucoma, mental retardation, and @DISEASE$, is reported.	false
+b56e1f4e1e5df0594b211dbc06880cf5d2d5d598	A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, glaucoma, @DISEASE$, and proteinuria, is reported.	false
+7e47a73fb54ab5ca49e1555ac2e8ebd5983d8cfe	A Hispanic girl with Lowe oculocerebrorenal syndrome (@DISEASE$), an X-linked recessive condition characterized by @PHENOTYPICFEATURE$, glaucoma, mental retardation, and proteinuria, is reported.	false
+26d88b0ac9916a633ce86d3d7c4b916cd06e500c	The oculocerebrorenal syndrome of Lowe (@DISEASE$) is an X-linked human genetic disorder characterized by @PHENOTYPICFEATURE$, congenital cataracts, and renal tubular dysfunction.	has_symptom
+0956ae926e8bca432ad299490a6f61be258d54bd	The @DISEASE$ (OCRL) is an X-linked human genetic disorder characterized by @PHENOTYPICFEATURE$, congenital cataracts, and renal tubular dysfunction.	has_symptom
+0789ac4ade2bea8512f08903f7cc563e3ee05d6e	Here we present a rare case of sporadic @DISEASE$ with @PHENOTYPICFEATURE$ and growth hormone deficiency (GHD).	has_symptom
+3b6e2a944c2df80c3ed10e853324db7e1c97376c	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @PHENOTYPICFEATURE$, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	has_symptom
+cffbb4864b1b2961782e2806ac2097c5e33f00c1	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, @PHENOTYPICFEATURE$, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+58faa08cde819f8bda83221397f6f935d6f371b5	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+f5b78c43da5d3a38396f0a01129e36d1a062413f	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+99a842bc29c2f3508fa83ec8a42ff7ae4c6ff79b	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @DISEASE$, @PHENOTYPICFEATURE$, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+1f8344a31df04dd513d44239bca43e2b8ee3f66d	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, @PHENOTYPICFEATURE$, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.	false
+afc63987795a1bfef0e268b37e7bd9c6f2c4f724	The distinctive clinical phenotype, for which we propose the eponym Aym?-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes @DISEASE$, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+f6034e3a59c516b9f84ab31505f4065ed1ffbecf	Adult polyglucosan body disease (@DISEASE$) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and @PHENOTYPICFEATURE$.	has_symptom
+bc7dbf61c5566322e99609516d3967bee64c634e	Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure @DISEASE$, upper motor neuron symptoms, @PHENOTYPICFEATURE$, and cognitive impairment.	false
+7f16d56ac3e8c3f46a4f6a779ad79a4afac70429	Adult polyglucosan body disease (APBD) is a rare @DISEASE$, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, @PHENOTYPICFEATURE$, and cognitive impairment.	false
+2711e4f445210ca35810cfbb5097bae32c595b55	Adult polyglucosan body disease (APBD) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+373dc9c06c9b5ae984a162fafe601c738dcd27dd	Adult polyglucosan body disease (@DISEASE$) is a rare neurological disease, characterized by adult onset (fifth to seventh decades), progressive sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, @PHENOTYPICFEATURE$, and cognitive impairment.	false
+f16635c4b5f2cf8cff2e03c04f6facaa757dfc06	? @DISEASE$ (THE-S) is characterized by severe infantile diarrhea, @PHENOTYPICFEATURE$, dysmorphism, woolly hair, and immune or hepatic dysfunction.	has_symptom
+75501c5c0575111d4299da7e548649ef87f718ee	@DISEASE$ (THE-S) is characterized by severe infantile diarrhea, @PHENOTYPICFEATURE$, dysmorphism, woolly hair, and immune or hepatic dysfunction.	has_symptom
+4a23028f3a26a873a6d000048adfdacbf582bc8b	Trichohepatoenteric syndrome or @DISEASE$ is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	has_symptom
+b09028f0a520bea55dd7f1e18c67e77ee732b388	@DISEASE$ or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and @PHENOTYPICFEATURE$.	has_symptom
+0ffd5aa20247a9253f48fc7c05db4e6a89cf8ed0	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable @DISEASE$, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and failure to thrive.	false
+e09f2bc88fb62d66e5218ba8507d4143ab2ba0c8	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and @DISEASE$.	false
+f07828602a0a96d00f2ad48b440507dc7167e803	Trichohepatoenteric syndrome or @DISEASE$ is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and failure to thrive.	false
+ee3dc336edbc8abaac35c21c7d515d850842dc40	@DISEASE$ or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and failure to thrive.	false
+428a7dc09e93982b0475455fd2074eb20b1a9337	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, @DISEASE$ and failure to thrive.	false
+1d4a879d6a721cff8d1396d1103654cab1de3f78	Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive @DISEASE$ characterized by intractable diarrhea, facial and hair @PHENOTYPICFEATURE$ dysfunction, immunodeficiency and failure to thrive.	false
+1e335bef50027f49fe08f8cfbe471c38f8977836	Indications for fitting included @DISEASE$, post-photorefractive keratectomy (PRK) decentred ablation, pellucid marginal degeneration, Stevens-Johnson syndrome, keratoconus, dry eye, neurotrophic keratitis, exposure @PHENOTYPICFEATURE$ from facial nerve paralysis, and post-radial keratotomy (RK) symptoms.	has_symptom
+3e10eaab61cd2ae6c27bb865404eb38c73bd408d	Patients were excluded who had coexisting potential causes for dendritiform keratopathy, such as prior herpes simplex keratitis, varicella-zoster viral keratitis, the linear form of Thygeson's superficial keratitis, epithelial regeneration line, Acanthamoeba @PHENOTYPICFEATURE$, mucus plaque keratopathy, medication-related keratopathy, or @DISEASE$ characterized by conjunctivalization of the corneal epithelium.	has_symptom
+aced4a263369073c64a3b789425c900b6310b3c0	The 8-month-old patient had @DISEASE$ (supravalvular aortic and pulmonic stenosis, bilateral @PHENOTYPICFEATURE$ and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively.	has_symptom
+6812d3e3a382fb17ed7512b7aee61ed6ed19313f	The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral @DISEASE$ and celiac artery occlusion, "elfin" facies, and @PHENOTYPICFEATURE$) and was treated nonoperatively.	false
+4262151cbaf5d011a3025ba64ae3f56acf8b722a	The 8-month-old patient had @DISEASE$ (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and @PHENOTYPICFEATURE$) and was treated nonoperatively.	false
+38f348e118d9c6faab3c40a1aab848c020a83fc4	Of these, 14 (31%) had fibromuscular dysplasia; 12 (27%) Takayasu's arteritis; six (13%) neurofibromatosis; two (5%) @DISEASE$; one (2%) Kawasaki disease; one (2%) mid-aortic syndrome; one (2%) extrinsic compression to the renal artery, and eight (18%) unspecified bilateral @PHENOTYPICFEATURE$.	has_symptom
+a92d9fadb14cded8306ae7324d7fd556b854d7c2	Comorbidities included: Takayasu arteritis (n = 3), systemic lupus erythematosus (n = 1), epidermal nevus syndrome (n = 1), abdominal hemangioma (n = 1), @DISEASE$ (n = 1), and @PHENOTYPICFEATURE$ (n = 2).	has_symptom
+e80a99189804fadfd5a59e34b275f97348608e79	Two Thai families with @DISEASE$ (ND): association of two novel missense mutations with severe ND phenotype, @PHENOTYPICFEATURE$, and a manifesting carrier.	has_symptom
+7917ff925dc9ad1f371685a6267197ae491fbc64	Although @PHENOTYPICFEATURE$ are observed in some patients with @DISEASE$, little is known about this phenomenon.	has_symptom
+862776b1601c938db0ae5e13866a4dd5ba250f79	@DISEASE$ syndrome: 20 new cases and evidence of basal ganglia @PHENOTYPICFEATURE$.	has_symptom
+b29d5867fb00ce0e364e68f3b6e26e426ac535cd	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with @DISEASE$, X-linked infantile spasms sharing common features of generally early-onset seizures and @PHENOTYPICFEATURE$.	has_symptom
+03fa64e92a68d5c235175ea8d4c2a2c423357587	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common features of generally early-onset @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cfb51355a74b5853c896da75a3b05d4a5226e2dc	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with @DISEASE$, X-linked infantile spasms sharing common features of generally early-onset @PHENOTYPICFEATURE$ and mental retardation.	false
+8e3e1487e92c30e13687a19857ae1473165fb44a	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare autosomal recessive disorder with @PHENOTYPICFEATURE$, severe mental retardation, and death in childhood.	has_symptom
+c73ff76f7abdb9e6afb489df28df633294791442	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare autosomal recessive disorder with microcephaly, @PHENOTYPICFEATURE$, and death in childhood.	false
+9dfb6efb6967fe8ae1080197f4c1afe1c898b6f2	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare autosomal recessive disorder with microcephaly, @PHENOTYPICFEATURE$, and death in childhood.	false
+69a794abf877d2b6c49819a9ecd94414d948d31d	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare autosomal recessive disorder with @DISEASE$, @PHENOTYPICFEATURE$, and death in childhood.	false
+092999376686f2283fae17d54c407af702b7b1c8	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, microphthalmia and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	has_symptom
+fbb0f74cad79bc55ea8fcfb743139050b2c4cb27	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+62d083bc9386c9ec56b39b6b5170b23453e500f7	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+919270a73cba821b676538cf76745eb9eb6d287b	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by @DISEASE$, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+0efa78019e5160431abb327070b1df6214f27311	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive @DISEASE$ characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+1a03e94e50b1e33e3d160b42ff50b57e1b56115d	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple @DISEASE$.	false
+e37eed52d0b93d548b82428bde0cc824ead99ede	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple @DISEASE$.	false
+c294b9b1349ce15df74b69f28915672fed9a007d	Cerebro-oculo-facial-skeletal (COFS) @DISEASE$ is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+9ad18188fca12b8e848c7423481d426183bffa1d	Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare, autosomal recessive @DISEASE$ characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+06ca76eac40d4100465520cf43c00d87a3ef15ba	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia and/or @PHENOTYPICFEATURE$, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+96c43b44a27dca897c53c3bf03a15eeab8a30ee0	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, @PHENOTYPICFEATURE$ and/or cataracts, neurogenic arthrogryposis, and multiple congenital anomalies.	false
+088f7609652958885b3d6469e570e9f2a353e5ed	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rare autosomal-recessive disorder that includes @PHENOTYPICFEATURE$, severe mental retardation, and multiple congenital anomalies.	has_symptom
+00b09e01d19852b3f6bbbdec17027a5f97bd2f03	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is a rare autosomal-recessive disorder that includes microcephaly, @PHENOTYPICFEATURE$, and multiple congenital anomalies.	false
+cbb95d24db86f149880f5968d3a09268777d15fd	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rare autosomal-recessive disorder that includes microcephaly, @PHENOTYPICFEATURE$, and multiple congenital anomalies.	false
+ddea6018a0dcdd9be371d69d9f4be83cbd3f3877	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, @PHENOTYPICFEATURE$, and multiple @DISEASE$.	false
+d52262c9370f2050518579b166315522ccd3c9e2	Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes @DISEASE$, @PHENOTYPICFEATURE$, and multiple congenital anomalies.	false
+c647aa5565b0cd40bb2f5727c55d25ab8841a9fc	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @PHENOTYPICFEATURE$, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	has_symptom
+386cf89e17086eb16981f10661f9b19bef0e2cc6	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @PHENOTYPICFEATURE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+1e4cfd5bfdf214b7d7ad4f5508681b9a80f91f69	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	false
+14d328be72b48c0c2af75914b3a9f09947a26fdf	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	false
+0d80adb21fb2b2cbd0b9705aeaf0e496ea71ff86	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, @PHENOTYPICFEATURE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+a7cfa9ceda31af1553b54693c5ee31f7c73a8393	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @DISEASE$, mental retardation, hyperkinesis, @PHENOTYPICFEATURE$, and orthopedic abnormalities (1).	false
+4a469e8bab2afd380275737bf334422e3e309432	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound @DISEASE$, @PHENOTYPICFEATURE$, hyperkinesis, failure to thrive, and orthopedic abnormalities (1).	false
+36c7bdba49d99624893e4d63a66d2c1f93f9c327	All three patients present the cardinal features of @DISEASE$ including extreme @PHENOTYPICFEATURE$, congenital cataracts, facial dysmorphism and arthrogryposis.	has_symptom
+7001bc6e0f0c6c497e8367790f4edda1183c5f79	All three patients present the cardinal features of COFS syndrome including extreme @DISEASE$, congenital cataracts, @PHENOTYPICFEATURE$ and arthrogryposis.	false
+76ab8a2ed78456f7c72b17bd112a6e06df90a6ae	All three patients present the cardinal features of @DISEASE$ including extreme microcephaly, congenital cataracts, @PHENOTYPICFEATURE$ and arthrogryposis.	false
+783002fe078cecb8870e1196caf4193ddb185479	All three patients present the cardinal features of COFS syndrome including extreme microcephaly, congenital @DISEASE$, @PHENOTYPICFEATURE$ and arthrogryposis.	false
+c5f9510d5fe7b89f3c34c5f79f0fb112daaaca1f	All three patients present the cardinal features of COFS syndrome including extreme microcephaly, congenital cataracts, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bcdb6528a52f004011197584b7f12633b1839562	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation.	has_symptom
+bcb5818b97a867312c9a2f2dd580e635a901cd1f	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, @PHENOTYPICFEATURE$, neurogenic arthrogryposis, growth failure and severe psychomotor retardation.	false
+80226676ed1ebf4543a76d0eae73ce10f60e4784	Cerebro-oculo-facio-skeletal (COFS) @DISEASE$ is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, @PHENOTYPICFEATURE$, neurogenic arthrogryposis, growth failure and severe psychomotor retardation.	false
+b4a08e32ea3d4e8370da74f11914b3128843b01a	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital @DISEASE$, @PHENOTYPICFEATURE$, neurogenic arthrogryposis, growth failure and severe psychomotor retardation.	false
+b842dbccf7bb3e01c669f7dd21ed1dec3def2c98	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, @PHENOTYPICFEATURE$, neurogenic @DISEASE$, growth failure and severe psychomotor retardation.	false
+c4fb0972cac6f003fb6800d6dc59dd2883ac65bd	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by @DISEASE$, congenital cataracts, @PHENOTYPICFEATURE$, neurogenic arthrogryposis, growth failure and severe psychomotor retardation.	false
+71476b525a9a0b7832e30f44f04b67821f3d12a4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+50534e0d73e98d4b479d42873cfb589e342cca41	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	has_symptom
+777cedc3335f0a08d50441f5bbf0d53b023fa060	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+034908653f65db9ed5d1e2b672461b08810f2465	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2ba6191635b880d1d18f61a2bf820b032f7a36ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7bfdee852380011d4e563bd7c953f993e7570135	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8ae9ce05e8a4ffb24edcfe6cdfb35a38192ef59c	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+9a6a95b167f8d4a7de6296b388ec02de89dd06f4	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+184bfff22b415f5d0e7698bf457713f7b4188d6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+91f4dc0d6048b9e8a8774b918b9d9cd08611540a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+43e3601033cec35209aee05a70ef743b880d9e6f	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+1ae7ca58798b741fed0a695a5d17aac1a84c2440	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+e93ddca4ee64d96d08b4c8b49e32479e9f4c24c9	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (@DISEASE$); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+8e586b2190e86e4b33b6fcb0bf321224ded68a57	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+da5e5fa94154f82c673a8aacb0acc6c87b71904a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+06429b835a1c3c3a72fe3461b311608226d61c48	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, @DISEASE$, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+bdcfaffe0b28dd502200697d77a355b0c7ec1bd8	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, @DISEASE$, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+7aa017b45f76573e50ac6468d3e0e6e00c42725a	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); @DISEASE$; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+60467c4925507007066cb1a7c66f6f03b3353df1	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz microphthalmia syndrome; and @DISEASE$.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+89fa397449e00b7beb6794fe1c64c8394710d506	The @DISEASE$ is associated with a @PHENOTYPICFEATURE$, stomatitis, anaemia, glucose-intolerance, hypoaminoacidaemia, weight loss, elevated sedimentation rate and hyperglucagonaemia.	has_symptom
+20650ad0a31a10d38810998ee4e0ad94bafda3fc	The @DISEASE$ is associated with a skin rash, stomatitis, anaemia, glucose-intolerance, hypoaminoacidaemia, @PHENOTYPICFEATURE$, elevated sedimentation rate and hyperglucagonaemia.	false
+35fb97c5d9c1a49e7722a58141d885b726091647	The glucagonoma syndrome is associated with a @DISEASE$, stomatitis, anaemia, glucose-intolerance, hypoaminoacidaemia, @PHENOTYPICFEATURE$, elevated sedimentation rate and hyperglucagonaemia.	false
+61ff43ceb13dad956d6e58ae0d4c3d766dcc9610	Severe type I plasminogen deficiency may cause severe @DISEASE$, a rare and unusual form of chronic pseudo-membranous conjunctivitis that usually starts in early infancy, but also pseudo-membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea and female genital tract, and in rare cases congenital occlusive @PHENOTYPICFEATURE$.	has_symptom
+911c72c942f2a58578880aec2dbab4e40ada5cc0	[@DISEASE$ and @PHENOTYPICFEATURE$ (an unusual association of 2 diseases)].	has_symptom
+f9d3e442e75bf70710964fa2734587d4e9fad7aa	The mouse with @DISEASE$ appears to be an appropriate animal model in which to study the @PHENOTYPICFEATURE$ and the effects of treatment of the disorder.	has_symptom
+24eb61e8dbdba5d4dc74b7200f0171fd8353f1c8	@DISEASE$ is an autosomal recessively inherited disorder that is often characterized by @PHENOTYPICFEATURE$.	has_symptom
+da97aee5eee79b865c10d9f9ac8ab2fb07d973b8	A later onset form in which @PHENOTYPICFEATURE$ are seen as well as those of the skin and hair is due to @DISEASE$.	has_symptom
+d10f4a3bb0b8ff5b3ae1eda5430239fec7e91153	In this paper we report on a sibship with at least four affected males suffering from @DISEASE$, ataxia, and @PHENOTYPICFEATURE$.	has_symptom
+e8ecc92ec3d0feced446a58355e32808430ea123	In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+77e3be1944f5c1bb19ee04079025f8ce4ba416eb	In this paper we report on a sibship with at least four affected males suffering from @DISEASE$, @PHENOTYPICFEATURE$, and mental deterioration.	false
+c70fef14af10446e7bd23ef495fc50d616229991	Two cases of early onset @DISEASE$ (FSHD) with @PHENOTYPICFEATURE$ and epilepsy are reported.	has_symptom
+9cf3640cc2962388dacf329e73c4831e7af305b5	Two cases of early onset facioscapulohumeral muscular dystrophy (@DISEASE$) with @PHENOTYPICFEATURE$ and epilepsy are reported.	has_symptom
+7d1dbdcf40c8efc9349c0b13575f1149a1ccb510	Facioscapulohumeral muscular dystrophy (@DISEASE$), a pathology primarily characterized by involvement of the muscles in the face, shoulder and upper arm, can be associated to several CNS disorders, including sensorineural hearing deficits, schizophrenia, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+e9d55628eeff76e9949458bf47360a7f65b3d540	@DISEASE$ (FSHD), a pathology primarily characterized by involvement of the muscles in the face, shoulder and upper arm, can be associated to several CNS disorders, including sensorineural hearing deficits, schizophrenia, epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+b2f5f2389c317efb24bfa09c7e0bba4bda2a045a	Although @PHENOTYPICFEATURE$ is commonly complicated with @DISEASE$, infantile spasms or epilepsy has never been reported.	has_symptom
+e0de5163b2b473e7fb9b639991fb19810dec6346	Epilepsy, speech delay, and @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+71df6e337c12309ecff67bc7825de55d2c1286cd	Epilepsy, @PHENOTYPICFEATURE$, and mental retardation in @DISEASE$.	false
+950100e1e495585b10f1951a0ed7cb6d18eb010d	Epilepsy, @PHENOTYPICFEATURE$, and @DISEASE$ in facioscapulohumeral muscular dystrophy.	false
+a20890941f330d5503f544fb51160c91ab349047	Epilepsy and @PHENOTYPICFEATURE$ in a subset of early onset 4q35-@DISEASE$.	has_symptom
+5de8346ae86a609f0e4a0f826d0f8f56565fae57	We report a 31-year-old man with @DISEASE$ who had congenital anomalies and @PHENOTYPICFEATURE$.	has_symptom
+8bba2713b6728373a18fc036e447a756c7f7a756	Two cases of chromosome 4q35-linked early onset @DISEASE$ with @PHENOTYPICFEATURE$ and epilepsy.	has_symptom
+42e5b3079e43ce2b9d66acffff412ade930280a6	Previous studies found that some patients with severe, early onset @DISEASE$ (FSHD) present epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+bed5110d7e6fad3282521068615e40cec7b0ad9e	Previous studies found that some patients with severe, early onset facioscapulohumeral muscular dystrophy (@DISEASE$) present epilepsy and @PHENOTYPICFEATURE$.	has_symptom
+9d31514a406f78dce7041d95aa3694caecfaeb18	@DISEASE$ associated with @PHENOTYPICFEATURE$, hearing loss, and tortuosity of retinal arterioles.	has_symptom
+9c83b7f693a2c1849caaedfb03f24b5e8d1b7f50	We report an 18-year-old female with facioscapulohumeral dystrophy (@DISEASE$), who had sensorineural deafness, retinal vessel abnormality, @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+028d683da2b3790b919037b627acd0813fb7b652	We report an 18-year-old female with @DISEASE$ (FSHD), who had sensorineural deafness, retinal vessel abnormality, @PHENOTYPICFEATURE$, and epilepsy.	has_symptom
+adf70987061d847923e5add6177d7eda9f7b3121	We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had @PHENOTYPICFEATURE$, retinal vessel abnormality, @DISEASE$, and epilepsy.	false
+e5b77a66920b1e53b0f039a44268965fd6877b33	We report an 18-year-old female with facioscapulohumeral dystrophy (@DISEASE$), who had @PHENOTYPICFEATURE$, retinal vessel abnormality, mental retardation, and epilepsy.	false
+ddb6168efd4bfea4580f6876360e4336a9e9ee7c	We report an 18-year-old female with @DISEASE$ (FSHD), who had @PHENOTYPICFEATURE$, retinal vessel abnormality, mental retardation, and epilepsy.	false
+298d8351704b1422063b7fc0dd50efe444d946ba	Clinical manifestations in infants with @DISEASE$ included postaxial polydactyly with @PHENOTYPICFEATURE$, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males.	has_symptom
+f01ef2e1d390448e4a7bc382b6f04508bb177b52	Clinical manifestations in infants with @DISEASE$ included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, @PHENOTYPICFEATURE$, imperforate anus, and micropenis with undescended or hypoplastic testes in males.	false
+4a7ea6f2050fd1491f98605a0eaf670abb7bfcb1	Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with @DISEASE$, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, @PHENOTYPICFEATURE$, imperforate anus, and micropenis with undescended or hypoplastic testes in males.	false
+97f93f7cc798d523137c5ddc79fd0936fd3da4f3	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, @PHENOTYPICFEATURE$, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	has_symptom
+eda397022a8172fb2f9e589c545efdc19fef12ad	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @PHENOTYPICFEATURE$, deafness, blindness, spasticity, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+258c63c9288e0c7389fa8473299a47548f66d302	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, @DISEASE$, blindness, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+fc007d2a88a939d12bc5708d752552816c643e16	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+57e3ef8fabcd933c19edf78bd0f9ba7db4abe0de	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, @PHENOTYPICFEATURE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+c0d56f4fde137bae9f7c2573a3e02a03d549f751	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+050f1fef94686ef4d3d22bb05ebb61122e236417	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, @PHENOTYPICFEATURE$, spasticity, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+889135289a5419a9fc3dbd385275015a5dd275d7	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, @DISEASE$, @PHENOTYPICFEATURE$, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+047ecdfe6caa2df90fde7307b053d356a76d5b0f	The clinical manifestations of @DISEASE$ include progressive developmental delay, @PHENOTYPICFEATURE$, deafness, blindness, spasticity, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+0beea8ab01fae64d32b8046e57abc22dfca927dd	The clinical manifestations of Tay-Sachs disease include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and @DISEASE$, which are caused by the accumulation of gangliosides in the central nervous system.	false
+258b7d720efd51c1fe70919b85de89ce28e98aa8	A 10-year-old girl with characteristic features of @DISEASE$ (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, @PHENOTYPICFEATURE$, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented.	has_symptom
+075efd05b4c1e1129733b4014cde9208f390e580	A 10-year-old girl with characteristic features of @DISEASE$ (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, maxillary hypoplasia, and hoarse voice) are presented.	has_symptom
+ea271cb2793b692fd792699ac52b72fa328a908d	A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, unusual facial features, @DISEASE$, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented.	false
+0da7d0cb72daf23cf74e2a9917b08acbc9740f0c	A 10-year-old girl with characteristic features of @DISEASE$ (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented.	false
+af52575d8d4ebe21bc30ca4c8b856871bc8dd26f	A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, @PHENOTYPICFEATURE$, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, @DISEASE$, maxillary hypoplasia, and hoarse voice) are presented.	false
+5f63ac9227afb05a5fdc1b94f7856c76e2822928	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, @PHENOTYPICFEATURE$, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	has_symptom
+49823010077fd2fe39bd34f4e92ccf66759b96fa	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, @DISEASE$, adducted thumbs, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation.	false
+533d83cebc36a74e32ba33b0c1355ea02c3a216e	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, @DISEASE$, adducted thumbs, spasticity, agenesis of the corpus callosum and @PHENOTYPICFEATURE$.	false
+efa406e0f2a57391968b8c7593f1da9b73e4b072	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, @PHENOTYPICFEATURE$ and mental retardation.	false
+785080fcd099b497a692f4808e43bc4fc8304516	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, @DISEASE$, adducted thumbs, spasticity, @PHENOTYPICFEATURE$ and mental retardation.	false
+3a57681ef12ffee394a5a945d1ca5694785eeb72	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+6697a0ae55c9455cbe5131543283096a908ded56	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, @PHENOTYPICFEATURE$, agenesis of the corpus callosum and mental retardation.	false
+1ac0d62335f75025d191e35e85943f802a2a89f8	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (@DISEASE$) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and @PHENOTYPICFEATURE$.	false
+f792f74e86117b954c6f01c412380a4b64678545	Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation.	false
+7c61eeca673b1b0d3a20b600edad30bc9ff954ec	@PHENOTYPICFEATURE$ in sisters with @DISEASE$ and the management of amino acids in chronic hemodialysis.	has_symptom
+83bf22e9fb2d41f06f8caad8f47f3940fb12c92e	In those with chronic glomerulonephritis, @DISEASE$, and polycystic disease, the hyperparathyroidism was considered to be tertiary to the renal disease but @PHENOTYPICFEATURE$ was not always present at the time of diagnosis.	has_symptom
+7d53c5119c7f1a2805ada317e88a2eb55b74a5b0	The early recognition and treatment of @DISEASE$ is important because recurrent stone formation may lead to urinary tract infection and, eventually, @PHENOTYPICFEATURE$.	has_symptom
+1666f2843325636a3685d187e360f9317c79f6fd	In a single patient with @PHENOTYPICFEATURE$, whole-exome sequencing revealed MAN1B1 as @DISEASE$ candidate gene.	has_symptom
+53c9f15379dfb890fb6f718178b782aa212d8a68	@DISEASE$ (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	has_symptom
+e1605a10af5415be7712236cf34251b1f1758080	@DISEASE$ (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+b8f1d5c10d4dd54a7f2fb963f1c5dfef795c5e9d	@DISEASE$ (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+980293b9b15565b2c0acd784a8230250d9ed154b	MEDNIK syndrome (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis, and @DISEASE$) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+c64316bf105dc8b6e04c5a7b744e3b9345769ca0	MEDNIK syndrome (@PHENOTYPICFEATURE$, enteropathy, @DISEASE$, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+d4e36247cbf1c73902ad98695563f9e2560248ed	MEDNIK syndrome (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis, and @DISEASE$) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+69c47087be2476ebbc5cc785b31720aede324e68	MEDNIK syndrome (mental retardation, enteropathy, @DISEASE$, @PHENOTYPICFEATURE$, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+155dd23ccb5785ae2f914e63d822619711eee404	MEDNIK syndrome (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, @DISEASE$, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+3ae5b0106ded66caf2f6a027ad2419580625d5bc	MEDNIK syndrome (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, @DISEASE$, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1S1, encoding the small ? subunit of the AP-1 complex.	false
+9925ad105a212c7e8b4d58532c9a1efd6dba5022	Clinical factors independently associated with HP disorders included HP radiotherapy (at any dose for GHD, TSHD, LH/FSHD, >30 Gy for ACTHD), alkylating agents (GHD, LH/FSHD), intrathecal chemotherapy (GHD), hydrocephalus with shunt placement (GHD, LH/@DISEASE$), @PHENOTYPICFEATURE$ (TSHD, ACTHD), and stroke (GHD, TSHD, LH/FSHD, ACTHD).	has_symptom
+455b496eb04e9b5a102075f5d89ed954ae54740e	Clinical factors independently associated with HP disorders included HP radiotherapy (at any dose for GHD, TSHD, LH/FSHD, >30 Gy for ACTHD), alkylating agents (GHD, LH/@DISEASE$), intrathecal chemotherapy (GHD), hydrocephalus with shunt placement (GHD, LH/FSHD), @PHENOTYPICFEATURE$ (TSHD, ACTHD), and stroke (GHD, TSHD, LH/FSHD, ACTHD).	has_symptom
+9575e074a069f6c26501731630fd98d941197dbe	Clinical factors independently associated with HP disorders included HP radiotherapy (at any dose for GHD, TSHD, LH/FSHD, >30 Gy for ACTHD), alkylating agents (GHD, LH/FSHD), intrathecal chemotherapy (GHD), @PHENOTYPICFEATURE$ with shunt placement (GHD, LH/@DISEASE$), seizures (TSHD, ACTHD), and stroke (GHD, TSHD, LH/FSHD, ACTHD).	false
+ea4fa2b95ef6fd7f85a00ac530e924de9b62cde9	Clinical factors independently associated with HP disorders included HP radiotherapy (at any dose for GHD, TSHD, LH/FSHD, >30 Gy for ACTHD), alkylating agents (GHD, LH/FSHD), intrathecal chemotherapy (GHD), @PHENOTYPICFEATURE$ with shunt placement (GHD, LH/FSHD), @DISEASE$ (TSHD, ACTHD), and stroke (GHD, TSHD, LH/FSHD, ACTHD).	false
+d84d582797c0516b85848687166a2ebad9b42b55	Clinical factors independently associated with HP disorders included HP radiotherapy (at any dose for GHD, TSHD, LH/FSHD, >30 Gy for ACTHD), alkylating agents (GHD, LH/@DISEASE$), intrathecal chemotherapy (GHD), @PHENOTYPICFEATURE$ with shunt placement (GHD, LH/FSHD), seizures (TSHD, ACTHD), and stroke (GHD, TSHD, LH/FSHD, ACTHD).	false
+fb0a19fe44dce10bac379a52692e3a5e38aacfb6	This unique presentation suggests that @DISEASE$ should be considered in the differential diagnosis of children with cognitive impairment, @PHENOTYPICFEATURE$, and hearing loss.	has_symptom
+21430f894e419efad142056a8ddef3f7ebaad051	This unique presentation suggests that facioscapulohumeral muscular dystrophy should be considered in the differential diagnosis of children with @PHENOTYPICFEATURE$, @DISEASE$, and hearing loss.	false
+b54e2933629f542bc521b79da706593e0bcb9231	This unique presentation suggests that facioscapulohumeral muscular dystrophy should be considered in the differential diagnosis of children with @PHENOTYPICFEATURE$, seizures, and @DISEASE$.	false
+9e04bc2c3f0f04fbdf0f835c734b4785485aba54	This unique presentation suggests that @DISEASE$ should be considered in the differential diagnosis of children with @PHENOTYPICFEATURE$, seizures, and hearing loss.	false
+f01e6cb70ff9e78a6bab6434f6def153169d7eeb	The clinical picture of @DISEASE$ includes myopia and astigmatism, @PHENOTYPICFEATURE$, nystagmus, ocular albinism, hemeralopia and dyschromatopsia (No. 300600, McKusick 1990).	has_symptom
+c2a771b23758cdfc392cad569e96f0a5742b0fc6	Aland Island eye disease (AIED), also known as @DISEASE$, is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, @PHENOTYPICFEATURE$, nystagmus, astigmatism, protan color vision defect, progressive myopia, and defective dark adaptation.	has_symptom
+bb2514919b4ad7ee71b50f1d7a5f3b352ed060b7	@DISEASE$ (AIED), also known as Forsius-Eriksson syndrome, is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, @PHENOTYPICFEATURE$, nystagmus, astigmatism, protan color vision defect, progressive myopia, and defective dark adaptation.	has_symptom
+13dceed250967e1a44a20a7056bf972d3547d7e6	Aland Island eye disease (@DISEASE$), also known as Forsius-Eriksson syndrome, is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, @PHENOTYPICFEATURE$, nystagmus, astigmatism, protan color vision defect, progressive myopia, and defective dark adaptation.	has_symptom
+26c0efc80cbeadad90be6928c329338938cd8200	Unexpectedly, a mutation in the Orc6 C-terminus linked to @DISEASE$, a @PHENOTYPICFEATURE$ disorder, impedes proper recruitment of Orc6 into ORC; biochemical studies reveal that this region of Orc6 associates with a previously uncharacterized domain of Orc3 and is required for ORC function and MCM2-7 loading in vivo.	has_symptom
+8e141a585ec3f9233d24f0b012b79c987c375992	We present a case of @DISEASE$ (interstitial keratitis, rapidly evolving sensorineural hearing loss and @PHENOTYPICFEATURE$) in a 12-year-old girl.	has_symptom
+5ef95776d608a948ec0c4610c6374327ad7fcff0	We present a case of @DISEASE$ (interstitial keratitis, rapidly evolving @PHENOTYPICFEATURE$ and vestibular dysfunction) in a 12-year-old girl.	false
+3977606ad2791d8d5933357efeb6dffd3f0f2822	We present a case of Cogan's syndrome (interstitial keratitis, rapidly evolving @PHENOTYPICFEATURE$ and @DISEASE$) in a 12-year-old girl.	false
+ace5d883dbb9a9cda3cbf2ac4f7f668a8b1d2e6d	The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable @PHENOTYPICFEATURE$ with infantile spasms (IS), severe hypotonia and @DISEASE$ (RTT) features.	has_symptom
+cfb51355a74b5853c896da75a3b05d4a5226e2dc	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with @DISEASE$, X-linked infantile spasms sharing common features of generally early-onset @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+b29d5867fb00ce0e364e68f3b6e26e426ac535cd	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with @DISEASE$, X-linked infantile spasms sharing common features of generally early-onset seizures and @PHENOTYPICFEATURE$.	false
+0fb34d9db19490f9fc542d6fbaf64031bc32f44b	Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common features of generally early-onset @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f60f7631502311c2ae4a48d7be726d9d82cc8ca1	The main symptoms associated with @DISEASE$ include fever, @PHENOTYPICFEATURE$ and abdominal pain with propensity for prolonged duration of diarrhea.	has_symptom
+88cbde43f90072ab6cc72be601cc70c1cc9ab20d	The main symptoms associated with @DISEASE$ include fever, vomiting and @PHENOTYPICFEATURE$ with propensity for prolonged duration of diarrhea.	false
+8db7628aeddecee47a52cfe4ae4348674bc7df9f	The main symptoms associated with cryptosporidiosis include @PHENOTYPICFEATURE$, vomiting and abdominal pain with propensity for prolonged duration of @DISEASE$.	false
+a6d8bba7f8d648ff2a8531b6aaa1588b3e65ec72	The main symptoms associated with cryptosporidiosis include fever, @DISEASE$ and @PHENOTYPICFEATURE$ with propensity for prolonged duration of diarrhea.	false
+a6c42a08b8edf8af8014b373eaeea02310f7f7b4	The main symptoms associated with @DISEASE$ include @PHENOTYPICFEATURE$, vomiting and abdominal pain with propensity for prolonged duration of diarrhea.	false
+adc482eb6e2849e7dcf53ef49db02db9ec061357	The main symptoms associated with cryptosporidiosis include fever, vomiting and @PHENOTYPICFEATURE$ with propensity for prolonged duration of @DISEASE$.	false
+36b959b29893755cea05651af57fed02d43cca2c	The main symptoms associated with cryptosporidiosis include @PHENOTYPICFEATURE$, @DISEASE$ and abdominal pain with propensity for prolonged duration of diarrhea.	false
+d6c7d3d806e5b67a3961532a1aba4b8b7d28659d	Coffin-Lowry syndrome (@DISEASE$; MIM 303600) in an uncommon X-linked disorder causing @PHENOTYPICFEATURE$ and skeletal abnormalities.	has_symptom
+2300c181ffcdf9f047f74bd9dc451ae3db265c1d	@DISEASE$ (CLS; MIM 303600) in an uncommon X-linked disorder causing @PHENOTYPICFEATURE$ and skeletal abnormalities.	has_symptom
+d875c15bbf371efde4b367fe65c2eb92294e8719	Coffin-Lowry syndrome (@DISEASE$; MIM 303600) in an uncommon X-linked disorder causing mental retardation and @PHENOTYPICFEATURE$.	false
+36f72d6100b649f6976f1e168f6a233e145e494f	@DISEASE$ (CLS; MIM 303600) in an uncommon X-linked disorder causing mental retardation and @PHENOTYPICFEATURE$.	false
+dab4959bc12724f03f90694f2ec1e4626c24d514	Coffin-Lowry syndrome (CLS; MIM 303600) in an uncommon X-linked disorder causing @DISEASE$ and @PHENOTYPICFEATURE$.	false
+53d938fb3d67c42b7985564349e490610fb8be55	Coffin-Lowry syndrome (@DISEASE$) is a well-described syndrome characterized by @PHENOTYPICFEATURE$, growth retardation, recognizable dysmorphic features, and skeletal changes.	has_symptom
+5b3f14067ca62f590859ff16b4e126f21294b677	@DISEASE$ (CLS) is a well-described syndrome characterized by @PHENOTYPICFEATURE$, growth retardation, recognizable dysmorphic features, and skeletal changes.	has_symptom
+ff56cff0521c7bc5b2e51a444dd9aa821c89db45	Coffin-Lowry syndrome (@DISEASE$) is a well-described syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, recognizable dysmorphic features, and skeletal changes.	false
+247d34ffee55f08b23af255d0de22051efdc07fd	Coffin-Lowry syndrome (CLS) is a well-described syndrome characterized by @DISEASE$, @PHENOTYPICFEATURE$, recognizable dysmorphic features, and skeletal changes.	false
+fb7b8481fddd674b04d721175f32f1409126ac1f	@DISEASE$ (CLS) is a well-described syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, recognizable dysmorphic features, and skeletal changes.	false
+c412d4f83df887a6031102fdf26db28b77868949	and two syndromal @PHENOTYPICFEATURE$ loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (@DISEASE$; Xp22.13-p22.2),	has_symptom
+0c41eb706e9ac31aba844e5b93f1c1dd950047e8	and two syndromal @PHENOTYPICFEATURE$ loci, Partington syndrome (PRTS; Xp22) and @DISEASE$ (CLS; Xp22.13-p22.2),	has_symptom
+bc3e6275818c16b906a2ebb242f3be2507160742	Coffin-Lowry syndrome (@DISEASE$) is an X-linked disorder associated with @PHENOTYPICFEATURE$, distinctive facies and hands, hypotonia, and skeletal abnormalities.	has_symptom
+bcb583da33863f5ecf47768f2c8445eb2438e4bb	@DISEASE$ (CLS) is an X-linked disorder associated with @PHENOTYPICFEATURE$, distinctive facies and hands, hypotonia, and skeletal abnormalities.	has_symptom
+01e44dae3aadf2971ca88d38a486e84a11f5b057	@DISEASE$ (CLS) is an X-linked disorder associated with mental retardation, distinctive facies and hands, hypotonia, and @PHENOTYPICFEATURE$.	false
+c92bc2c21ed5e39f77741e428491a145e71b5ee5	Coffin-Lowry syndrome (CLS) is an X-linked disorder associated with @DISEASE$, distinctive facies and hands, hypotonia, and @PHENOTYPICFEATURE$.	false
+b1da9ceb70874295bde3473ea11ba3a80b013dcb	Coffin-Lowry syndrome (@DISEASE$) is an X-linked disorder associated with mental retardation, distinctive facies and hands, hypotonia, and @PHENOTYPICFEATURE$.	false
+299b5248974d7c7cc25268889eac8cb47bf24107	The @DISEASE$: an inherited faciodigital @PHENOTYPICFEATURE$ syndrome.	has_symptom
+039b07a712267d33da7aa292f07820a5f6667aab	A syndromic form of X-linked @PHENOTYPICFEATURE$: the @DISEASE$.	has_symptom
+6628280534050b6c3b6068553df7ea884dd052d4	@DISEASE$ (CLS) is an X-linked syndromic form of @PHENOTYPICFEATURE$ associated with skeletal abnormalities.	has_symptom
+ceda00ca50cb594aaad8d43c83fcab21f7449c9a	Coffin-Lowry Syndrome (@DISEASE$) is an X-linked syndromic form of @PHENOTYPICFEATURE$ associated with skeletal abnormalities.	has_symptom
+2610029909e3fd5c25fd74badc9f2041aac1cab8	Coffin-Lowry Syndrome (CLS) is an X-linked syndromic form of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+f44791d565baf2485b5aed77a8b646aa6683d1b3	Coffin-Lowry Syndrome (@DISEASE$) is an X-linked syndromic form of mental retardation associated with @PHENOTYPICFEATURE$.	false
+581077c6d126cb941c8cb674eef37ff0a4b0bc90	@DISEASE$ (CLS) is an X-linked syndromic form of mental retardation associated with @PHENOTYPICFEATURE$.	false
+7f28d95c1fd2f16b0e50f06e73025a9cd05fa947	The @DISEASE$: a facio digital @PHENOTYPICFEATURE$ syndrome: a case report.	has_symptom
+e1822f12f43082ea8bf6ea6cc0d1efe17bcc8f42	Coffin-Lowry Syndrome (@DISEASE$) is an X-linked @PHENOTYPICFEATURE$ condition associated with skeletal abnormalities.	has_symptom
+d252e83d6436bae74c1a62595ccdf1e76ed62fed	@DISEASE$ (CLS) is an X-linked @PHENOTYPICFEATURE$ condition associated with skeletal abnormalities.	has_symptom
+cb50e699e00eed8db0909d8aba855f5faba7652f	Coffin-Lowry Syndrome (@DISEASE$) is an X-linked mental retardation condition associated with @PHENOTYPICFEATURE$.	false
+b037b79823f18591aa90e8b24573aa53b20c88ac	Coffin-Lowry Syndrome (CLS) is an X-linked @DISEASE$ condition associated with @PHENOTYPICFEATURE$.	false
+662039d4b7973c2f3d5a9c856852875aa8f447f0	@DISEASE$ (CLS) is an X-linked mental retardation condition associated with @PHENOTYPICFEATURE$.	false
+bf020923bd27c2737c0cbf146eb0bce570e9e2cd	Coffin-Lowry syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, a peculiar face and deformities of the thorax and spine.	has_symptom
+9dd0583aa0f611af9fd33059dc00b0db0def7b0c	@DISEASE$ (CLS) is characterized by @PHENOTYPICFEATURE$, a peculiar face and deformities of the thorax and spine.	has_symptom
+58537372f56476602b6fb291af548f7c15143c2a	In @DISEASE$ type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic @PHENOTYPICFEATURE$, hypercalciuria, nephrocalcinosis, and/or nephrolithiasis.	has_symptom
+2d76ceb86b5e9d5aeaa3f2e52e97a2983ff61044	In @DISEASE$ type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic hypokalemia, @PHENOTYPICFEATURE$, nephrocalcinosis, and/or nephrolithiasis.	false
+57f50d88dbb9851c5e25538fef2bffdef6a6d099	In autosomal dominant distal renal tubular acidosis type I (dRTA) impaired hydrogen ion secretion is associated with metabolic acidosis, hyperchloremic @DISEASE$, @PHENOTYPICFEATURE$, nephrocalcinosis, and/or nephrolithiasis.	false
+3e39c8ed814dfe6f9b043a8c9a00e901a6b99419	Microcephaly, microphthalmia, congenital cataract, optic atrophy, @PHENOTYPICFEATURE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	has_symptom
+dd2b2440d2c8e8b11398fc2cb2844206d5a78094	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, optic atrophy, @DISEASE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+eb72b3c93bd2e5c20ead4d57338197b1cd84f36d	Microcephaly, microphthalmia, congenital @DISEASE$, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+1dac0cec7325e267d214e5b701b3ed45d2b54578	Microcephaly, microphthalmia, congenital cataract, @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+9d21eda3d8dca84bcdd6bd3c9775989b9d6792e3	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and @DISEASE$: a second family with micro syndrome or a new syndrome?	false
+f93d2d16a34423ce042b67a59a61076270df3110	Microcephaly, @PHENOTYPICFEATURE$, congenital @DISEASE$, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?	false
+6b8f5d8bea4b05724a516040bdef6273f5174612	Microcephaly, microphthalmia, congenital cataract, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	false
+3080fd7dd79447027b77c5e6b1bc44158cb57f8a	Microcephaly, @PHENOTYPICFEATURE$, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with @DISEASE$ or a new syndrome?	false
+45b9de7c76516027e49c69118f1efbfeb3c9615d	Microcephaly, microphthalmia, congenital cataract, @PHENOTYPICFEATURE$, short stature, hypotonia, severe psychomotor retardation, and @DISEASE$: a second family with micro syndrome or a new syndrome?	false
+a73becf9a452cd8ec09549abef830d373487767e	Autism spectrum disorder (ASD) is one of many @PHENOTYPICFEATURE$ (PDD); others include Rett syndrome, @DISEASE$ (also known as Heller's syndrome), pervasive developmental disorder not otherwise specified (PDD-NOS), and the higher functioning Asperger's syndrome.	has_symptom
+679aa63020cd552280414bb83359096cbf9ef41b	Autism spectrum disorder (ASD) is one of many pervasive developmental disorders (PDD); others include Rett syndrome, @DISEASE$ (also known as Heller's syndrome), @PHENOTYPICFEATURE$ not otherwise specified (PDD-NOS), and the higher functioning Asperger's syndrome.	has_symptom
+bf72fc3d4a867a9528d140f5ec94e49fc7de048f	Autistic disorder is classed within the broad domain of @PHENOTYPICFEATURE$ (PDD) that also includes Rett syndrome, @DISEASE$, Asperger syndrome, and PDD not otherwise specified (PDD-NOS).	has_symptom
+73b175711ec6fd069d9146ed84ff03ae6b6b90aa	The diagnostic category @PHENOTYPICFEATURE$ (PDDs) refer to a group of five disorders: autism, Rett syndrome, @DISEASE$, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS).	has_symptom
+60e5c925ea778705d22c93ed57ae44f996712435	The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: autism, Rett syndrome, @DISEASE$, Asperger syndrome, and @PHENOTYPICFEATURE$ not otherwise specified (PDD-NOS).	has_symptom
+92865b71c985719ec74e3b647fca4da067510e87	The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: @PHENOTYPICFEATURE$, Rett syndrome, @DISEASE$, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS).	false
+5d86b06a81d70780c5beb5ee86ced267d7b9295b	The diagnostic category @DISEASE$ (PDDs) refer to a group of five disorders: @PHENOTYPICFEATURE$, Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS).	false
+87b2b35dbcfcc617e9bef2a26ee691dbf7767426	The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: @PHENOTYPICFEATURE$, Rett syndrome, childhood disintegrative disorder, @DISEASE$, and pervasive developmental disorder not otherwise specified (PDD-NOS).	false
+31095034e36c7c874b5704f1e7907749e38660cb	The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: @PHENOTYPICFEATURE$, Rett syndrome, childhood disintegrative disorder, Asperger syndrome, and @DISEASE$ not otherwise specified (PDD-NOS).	false
+f672438e0424c1a54b359af38e30c318c833d938	The five types included in ASD are: Asperger syndrome, @PHENOTYPICFEATURE$-not otherwise specified (PDD-NOS), typical autism, Rett syndrome and @DISEASE$ (CDD).	has_symptom
+fa5356ef4b3e0f1a703eed41924da067926740a3	The five types included in ASD are: @DISEASE$, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and childhood disintegrative disorder (CDD).	false
+105449ccdc75f9c5b9a7daca0677b282e65bb37f	The five types included in @DISEASE$ are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and childhood disintegrative disorder (CDD).	false
+a71afe904c8f60e065f645f4c5587344c6239337	The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and @DISEASE$ (CDD).	false
+2af7b5701859ad6c1e1925bba5c4c1a33bb676cb	The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, @DISEASE$ and childhood disintegrative disorder (CDD).	false
+5b59c9101171cfd7e67f8e4dded473168c75be57	The five types included in ASD are: Asperger syndrome, @DISEASE$-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and childhood disintegrative disorder (CDD).	false
+a9f250cc2c41e9447a407badf67909d43cca01c1	@DISEASE$ is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, @PHENOTYPICFEATURE$, and distinctive facial features.	has_symptom
+6428bba1e7f7a075caef4e11b9e11a0424754866	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, and distinctive facial features.	false
+343caa27d39b1842ff01ded53ab6f36d2a67f2c2	@DISEASE$ is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	false
+79be664283401ed5edc686fa9e462e4be4cefa71	Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus, and distinctive facial features.	false
+b942882116bd990dc20c64083ce36444e75a1dee	@DISEASE$ associates early aging in young adults, small height, cataract, glucose intolerance, hypogonadism, @PHENOTYPICFEATURE$, vascular calcifications and osteoporosis.	has_symptom
+278ffab7ced9bef165af507e09e3a63c55c00c17	Werner's syndrome associates early aging in young adults, small height, @PHENOTYPICFEATURE$, glucose intolerance, hypogonadism, skin ulcers, vascular calcifications and @DISEASE$.	false
+2a1ff4037a5eb98622de5dee1977c53512b7cea9	Werner's syndrome associates early aging in young adults, small height, @PHENOTYPICFEATURE$, glucose intolerance, hypogonadism, @DISEASE$, vascular calcifications and osteoporosis.	false
+8178db23e405973f5e63a7317aa1dd6f16515266	@DISEASE$ associates early aging in young adults, small height, @PHENOTYPICFEATURE$, glucose intolerance, hypogonadism, skin ulcers, vascular calcifications and osteoporosis.	false
+e48d26832311d65f2f2d40cbe6034754028362df	Eight imported cases of @DISEASE$-like syndrome with fever, @PHENOTYPICFEATURE$, and skin manifestations were investigated.	has_symptom
+7b3b8fa5feb4def3577cd6913592b540a4deb9e8	Eight imported cases of @DISEASE$-like syndrome with @PHENOTYPICFEATURE$, joint pain, and skin manifestations were investigated.	false
+82045f39274f30954388c4784b0ccb83a811ca71	Eight imported cases of dengue-like syndrome with @PHENOTYPICFEATURE$, @DISEASE$, and skin manifestations were investigated.	false
+10483c01933e0ccc99401603aa8c2889e5661a06	Eight imported cases of dengue-like @DISEASE$ with @PHENOTYPICFEATURE$, joint pain, and skin manifestations were investigated.	false
+744c6b08418579dd7c4c5bcfdc901e957ac90aa7	Dengue clinical manifestations include asymptomatic infections; undifferentiated fever; @DISEASE$, which is characterized by fever, headache, retroorbital pain, myalgia, and @PHENOTYPICFEATURE$; and a severe form of the disease denominated dengue haemorrhagic fever/dengue shock syndrome, characterized by haemoconcentration, thrombocytopenia, and bleeding tendency.	has_symptom
+af328053a5771ef4b1df8db1efd2f9c46782c2b2	Dengue clinical manifestations include asymptomatic infections; undifferentiated fever; @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, headache, retroorbital pain, myalgia, and arthralgia; and a severe form of the disease denominated dengue haemorrhagic fever/dengue shock syndrome, characterized by haemoconcentration, thrombocytopenia, and bleeding tendency.	false
+46d78989bef8178bf792c6c82c797a2ab7f1c789	Dengue clinical manifestations include asymptomatic infections; undifferentiated fever; dengue fever, which is characterized by @PHENOTYPICFEATURE$, headache, retroorbital pain, myalgia, and arthralgia; and a severe form of the disease denominated dengue haemorrhagic fever/dengue shock syndrome, characterized by haemoconcentration, @DISEASE$, and bleeding tendency.	false
+5441d482285de5a8c431ca535f03082bbb87353e	Dengue clinical manifestations include asymptomatic infections; undifferentiated fever; dengue fever, which is characterized by @PHENOTYPICFEATURE$, headache, retroorbital pain, myalgia, and @DISEASE$; and a severe form of the disease denominated dengue haemorrhagic fever/dengue shock syndrome, characterized by haemoconcentration, thrombocytopenia, and bleeding tendency.	false
+08c3130c09838f21c3c04047c14a448ef9f912eb	@DISEASE$ @PHENOTYPICFEATURE$ mimicking meningeal lymphoma.	has_symptom
+3e51839ef61ff9861f50d21241d94bfd9a0f1ee4	WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case highlights the difficulty in early diagnosis of disseminated Lyme disease and how a potentially false-positive laboratory test can lead to the complications of @DISEASE$ @PHENOTYPICFEATURE$ and Lyme carditis in untreated young healthy patients.	has_symptom
+83d0f02f76363fd7f7fb133b86d49eb8ff79f65d	@DISEASE$ @PHENOTYPICFEATURE$ in Denmark.	has_symptom
+7f2b75e877c6724964c058df9d35522e14382d37	We report a case of early-disseminated Lyme disease presenting with @DISEASE$ @PHENOTYPICFEATURE$ and concomitant Lyme carditis, which was misdiagnosed as mononucleosis.	has_symptom
+46318a6f65c436535d8c36b4893d62a2b32667a1	In conclusion, we have found that in an endemic area of northern Europe, meningitis is present in the majority of children with @DISEASE$, and that symptoms of a mild @PHENOTYPICFEATURE$ or facial nerve palsy are the most common presentations.	has_symptom
+20a8f3bcf874397c1e3a5779de79211f47aabcd1	BACKGROUND @DISEASE$ is an uncommon disease characterized by severe @PHENOTYPICFEATURE$, dysmorphic features, and skeletal abnormalities.	has_symptom
+740e07fcb7e04c17352f9d04790fac5687055b95	BACKGROUND @DISEASE$ is an uncommon disease characterized by severe growth retardation, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+be1ed08f1218c63e1ad3bd35eed3d940e950369b	BACKGROUND 3-M syndrome is an uncommon disease characterized by severe @DISEASE$, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+5b92aa5abf4d35823cc592ffb38428db5b853ca2	@DISEASE$ is a rare entity characterized by severe @PHENOTYPICFEATURE$, dysmorphic features and skeletal changes as its major components.	has_symptom
+5b87768a7f9528126b3a22c35188e60d9c6cd802	@DISEASE$ is a clinically recognizable yet under-diagnosed primordial @PHENOTYPICFEATURE$ disorder.	has_symptom
+c4d4d95072a5ce3bf6b2a751e37609739eeea3dc	We describe two unrelated male children with @DISEASE$, a rare genetic disorder consisting of cerebellar ataxia, partial @PHENOTYPICFEATURE$, and psychomotor delay.	has_symptom
+29a3ffd8169c5ce753ccab4636a27c5d792df235	We describe two unrelated male children with Gillespie syndrome, a rare @DISEASE$ consisting of @PHENOTYPICFEATURE$, partial aniridia, and psychomotor delay.	false
+dc0a6d61cdfc72fc1b77d4f802e81b9ba580ab20	We describe two unrelated male children with @DISEASE$, a rare genetic disorder consisting of @PHENOTYPICFEATURE$, partial aniridia, and psychomotor delay.	false
+0d7d9b1399e39f464a8aeb45fd7ac92bc9305ac3	We describe two unrelated male children with Gillespie syndrome, a rare genetic disorder consisting of @PHENOTYPICFEATURE$, partial @DISEASE$, and psychomotor delay.	false
+6e321c4abe913eac4b37e985a2153f79b55c81c9	@DISEASE$ is a rare, congenital, neurological disorder characterized by the association of partial bilateral @PHENOTYPICFEATURE$, non-progressive cerebellar ataxia and intellectual disability.	has_symptom
+f51b5380f53e2793919dabb547c2176cfc20f545	Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4d3748ac85359adba2f00099c0b1535db44aabf0	Gillespie syndrome is a rare, congenital, @DISEASE$ characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+eeba58d260b0fa885d26ef810846406edce677dd	Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral @DISEASE$, non-progressive cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+117ca99ed5e07715e3cac546e7611e1b9d134635	@DISEASE$ is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+24d29acde679c54fa913bea62ef0c8f62ada8d09	Here we describe a 5-year-old girl with @DISEASE$ of cerebellar ataxia, partial @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+ff69e5acf7a7e048d82efab5262ab6bc8fd70836	Here we describe a 5-year-old girl with Gillespie syndrome of @PHENOTYPICFEATURE$, partial @DISEASE$, and mental retardation.	false
+daddea7cf3cacdc9f93363378849693cab09ffcb	Here we describe a 5-year-old girl with @DISEASE$ of @PHENOTYPICFEATURE$, partial aniridia, and mental retardation.	false
+88112a8f126198d7f2378871c920a92a1cf4f8a5	Here we describe a 5-year-old girl with @DISEASE$ of cerebellar ataxia, partial aniridia, and @PHENOTYPICFEATURE$.	false
+34c956da498fbf51ec67a276a92da379b7a5ed5e	Here we describe a 5-year-old girl with Gillespie syndrome of cerebellar ataxia, partial @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1ce8d47d154af8bf6191215eea1bb4e62a15db73	PAX6 gene analysis can be helpful to distinguish between autosomal dominant @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+26893a471a7bd94a6e7c06728ddfd58de6c235b4	Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	has_symptom
+137fd2a4eed9c9dedb21729d10e88def65de0570	We review the clinical features of the genetic syndromes considered, and suggest KBG syndrome be considered in patients presenting with syndromic @DISEASE$, especially if @PHENOTYPICFEATURE$ and developmental delay are also present.	has_symptom
+eb7645630d1e2627738a708f7f82963b868494ac	Variable expressivity of the phenotype in two families with @DISEASE$, craniofacial dysmorphism, @PHENOTYPICFEATURE$ and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.	has_symptom
+eec8983c7b05177b199f3b627ede9a19d80158ad	The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+319d455f940313bc5ceba9a1d971e609a7cd038d	The first familial case of inherited 2q37.3 interstitial deletion with isolated @PHENOTYPICFEATURE$ including @DISEASE$ and short stature.	false
+4f56cbf4898efad72271b30c131b498430e020a0	The first familial case of inherited 2q37.3 interstitial deletion with isolated @PHENOTYPICFEATURE$ including brachydactyly type E and @DISEASE$.	false
+e0a584c620b45b575d603204cb610950d1fefd34	Disease-causing variants and haploinsufficiency of PTHLH are known to cause @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+4f414a9e619b76b86a9d61686e57ded30261173c	We report a patient with developmental delay, @DISEASE$, @PHENOTYPICFEATURE$, and tetralogy of Fallot.	has_symptom
+4c5ecdcd3b11be00752d6ca7d1d8467a7110c70b	In the large database of the Coffin-Lowry Syndrome Foundation family support group, 34 of 170 (20%) individuals with @DISEASE$ and known age had 'drop attacks' and an additional 9 (5%) of these had additional @PHENOTYPICFEATURE$.	has_symptom
+98df00853ceae848c4d31b6295e6e45e9e3a1cd4	We conclude that SIDE should be included in a differential diagnosis of @PHENOTYPICFEATURE$ in patients with @DISEASE$ and that clonazepam is an effective choice in the treatment of SIDEs.	has_symptom
+eacb44ad0961157512593647cca763b0ce4f1b80	The reciprocal duplication of this region results in another genomic disorder, @DISEASE$ (PTLS; OMIM 610883), characterized by @PHENOTYPICFEATURE$, intellectual disability, and congenital anomalies.	has_symptom
+1e4da0776591fa686a6351047543cc8875a572bb	The reciprocal duplication of this region results in another genomic disorder, Potocki-Lupski syndrome (PTLS; OMIM 610883), characterized by @DISEASE$, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+19c386051f8ba93ef5bd56addb8a82decc8bc0b0	The reciprocal duplication of this region results in another genomic disorder, @DISEASE$ (PTLS; OMIM 610883), characterized by autism, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+4536ba65392c610c0204cea2a4d25ab6fac981ae	The reciprocal duplication of this region results in another genomic disorder, Potocki-Lupski syndrome (PTLS; OMIM 610883), characterized by autism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0ecfe81186043f4966dfe7eb52bf8ecf451c66e6	Searching for @DISEASE$ phenotype: a patient with language impairment and no @PHENOTYPICFEATURE$.	has_symptom
+63460a15c9ce57eb956f3395f78bad9622cfcc49	The reciprocal duplication leads to dup(17)(p11.2p11.2) associated with the @DISEASE$ (PLS), a neurological disorder whose features include @PHENOTYPICFEATURE$.	has_symptom
+dbb234d8bbc9d0c45c9059d933fc91b5d8d652ea	A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or @DISEASE$. Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, @PHENOTYPICFEATURE$.	has_symptom
+88cbde43f90072ab6cc72be601cc70c1cc9ab20d	The main symptoms associated with @DISEASE$ include fever, vomiting and @PHENOTYPICFEATURE$ with propensity for prolonged duration of diarrhea.	has_symptom
+8f50beb776dcc4db473e2024be99f1d06b8e8b99	The main symptoms associated with cryptosporidiosis include fever, @PHENOTYPICFEATURE$ and abdominal pain with propensity for prolonged duration of @DISEASE$.	false
+8db7628aeddecee47a52cfe4ae4348674bc7df9f	The main symptoms associated with cryptosporidiosis include @PHENOTYPICFEATURE$, vomiting and abdominal pain with propensity for prolonged duration of @DISEASE$.	false
+9a853ef2a7ee0987ee008abbb541c643eafc5352	The main symptoms associated with cryptosporidiosis include fever, @PHENOTYPICFEATURE$ and @DISEASE$ with propensity for prolonged duration of diarrhea.	false
+a6c42a08b8edf8af8014b373eaeea02310f7f7b4	The main symptoms associated with @DISEASE$ include @PHENOTYPICFEATURE$, vomiting and abdominal pain with propensity for prolonged duration of diarrhea.	false
+f60f7631502311c2ae4a48d7be726d9d82cc8ca1	The main symptoms associated with @DISEASE$ include fever, @PHENOTYPICFEATURE$ and abdominal pain with propensity for prolonged duration of diarrhea.	false
+d85d44e99dbc5cbd51d0cfaf7f4e8d8c82d28346	The main symptoms associated with cryptosporidiosis include @PHENOTYPICFEATURE$, vomiting and @DISEASE$ with propensity for prolonged duration of diarrhea.	false
+50f3e8d34ba7d8eaba75adacc15a09c51f285420	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's @DISEASE$ have been elucidated.	has_symptom
+81842b8bc08ff7a00beb3c00c5991cedf2fa2af0	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant @DISEASE$, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+d075b818dd51175d552bbea066bbd0869e94666b	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, @DISEASE$, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+bab37854675d9f089b00cb12011d7edc88b2c0bb	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as @DISEASE$, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+55fc1399bd51ddbcb6aaeb3e145a18ece021af51	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, @DISEASE$, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+3a440dc74d75d42d481dd281e46eb24066ee6872	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, @DISEASE$ ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+3e896274294807770f9e7f2ef5681a09dd25d263	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and @DISEASE$, and Leber's hereditary optic atrophy have been elucidated.	false
+0a9c03bc8214e8ccd6ddeb66c5cf3fa0cb5ff04a	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's @DISEASE$ have been elucidated.	false
+5fa9f1c762217c2e38e2faa5fe6ff4894f01fd7f	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, @DISEASE$, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+265e5fc0c4948dfa630ddb9959f3180e4d5adaea	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, @DISEASE$, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+83d619fb6020a146915f6f09d243e37295af9c1a	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, @DISEASE$, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+818cd688dd00ff7884dd3b82c27d3c2425fc7b11	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant @DISEASE$, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+83ce1794e04724d2e44d0ca9a8d5d391c4ce3998	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as @DISEASE$, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+d3e488a349464d79e21624435553d056f83b3d4d	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and @DISEASE$, and Leber's hereditary optic atrophy have been elucidated.	false
+0fb8ff53b01af3e9cc0fa57e23459b459416954d	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, @DISEASE$ @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+404c84d1338cd9488c4647c6e665eccc630276ae	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich @PHENOTYPICFEATURE$, @DISEASE$, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated.	false
+66d0ae0657c2de806cec9af995828afc3c96b9e5	In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy @PHENOTYPICFEATURE$ and retinitis pigmentosa, and Leber's @DISEASE$ have been elucidated.	false
+82f6476c65ebe4090d513a88b4535ded3cc606e5	Several OPA1 variants cause dominant @PHENOTYPICFEATURE$ (DOA), the most common @DISEASE$.	has_symptom
+4c4acb14af783970c0ddd76fd4fe557d81f144b0	@DISEASE$ is a significant cause of @PHENOTYPICFEATURE$ in children.	has_symptom
+ea8acaae844a1f2f6f57371db14031307f44d45b	Pompe disease or @DISEASE$ (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce @PHENOTYPICFEATURE$, gait abnormalities, or even death by respiratory failure.	has_symptom
+c50b87119196bc794afdbebbaf72e1abda1cb124	Pompe disease or @DISEASE$ (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+c424be9139b34d5e1a82af3d243b6674a3be8248	@DISEASE$ or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+4dfcda18b959c9205ceb7ba58b92e4451952cb18	Pompe disease or glycogen storage disease type II (OMIM: 232300) is a @DISEASE$ resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+af54ea0ac1527926d3968b20ca5f439f62303e9c	Pompe disease or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce @DISEASE$, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+1a0a274c82129937403f5673841a35fb157700f7	Agrypnia excitata in a patient with progeroid @PHENOTYPICFEATURE$ and pigmented Nevi (@DISEASE$).	has_symptom
+bae974ce36a4585452d7e9de42d087ed418addb5	@DISEASE$ is a rare progeria-like disorder with characteristic findings including premature aging, @PHENOTYPICFEATURE$, pointed face and multiple melanocytic nevi.	has_symptom
+bfa29279e54bde569438570fe4b0af715e63c019	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, @PHENOTYPICFEATURE$, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	has_symptom
+383b5f6ea1caef3eb5321042e2cc79140734236f	Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+a28a87095aae69a3a7980541821ffab7d477a729	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, @PHENOTYPICFEATURE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+da13b57d4b110ab4b5f74cdd1f881267a38228d2	@DISEASE$ (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, @PHENOTYPICFEATURE$, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+5c9c51bbcfffc8c0b64fbefb852eeed79534d384	Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$ and recurrent infections, however the adult phenotype of MSS has yet to be delineated.	false
+63d4931336a0dd721ade82b056d77781e05b2133	Specimens were 21 sera in 1968, 19 in 1980, 44 in 1987 and 33 in 1992, derived from 67 patients with erythema infectiosum, @PHENOTYPICFEATURE$ and/or non-specific exanthem and aplastic crisis in persons with @DISEASE$.	has_symptom
+783d734c982b097372d4f72d65296cc7e9e014df	A 31-year-old man, who had undergone splenectomy 18 months previously because of @DISEASE$, suddenly became ill, with @PHENOTYPICFEATURE$, vomiting, epigastric pain and shock, and died 10 hours after the onset of his symptoms.	has_symptom
+bfaa6e4294e0f380c46b77d549299c28b92f6990	A 31-year-old man, who had undergone splenectomy 18 months previously because of hereditary spherocytosis, suddenly became ill, with @DISEASE$, @PHENOTYPICFEATURE$, epigastric pain and shock, and died 10 hours after the onset of his symptoms.	false
+c5f81012efcc7a2a92ec048e072e5cd8d87e25bd	A 31-year-old man, who had undergone splenectomy 18 months previously because of @DISEASE$, suddenly became ill, with fever, @PHENOTYPICFEATURE$, epigastric pain and shock, and died 10 hours after the onset of his symptoms.	false
+7f36e47562e34affbf4a29c9bff9e030cb8c6679	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @PHENOTYPICFEATURE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies.	has_symptom
+776a3208886ce81b3d4ddc2fa34dd7a42ebe8425	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @DISEASE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	false
+7c5ae85236d71e294e751ed4fddbb0706ff03849	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, @DISEASE$, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+c158441a736b8834268170bf944f712f77c7efd0	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	false
+ec9b085c9183fd89ca2615057b126d62fef23e33	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable @DISEASE$ including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+2f33b6752d4373f771c356bda60cdf4951c5656f	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	false
+e7ac30c9daba8d673fdc6d35645b8125c42a09c1	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	false
+bf343f635df57f6d1c4ccd492dd152621c91ee62	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly @DISEASE$ characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+3e22571a0a2c2f6c6dabd9b82426a27146f757e7	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including @DISEASE$ (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+148fe1194099b1e15a76d44d2c51b882a45f33f2	Mowat-Wilson syndrome (MWS) is a multiple @DISEASE$ syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+0c4fb2c324cc4e2c49b4cbba16d4babe94a078b4	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable @DISEASE$ including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	false
+94034c031694a9f08f687b77e746769cad86286a	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including @DISEASE$ (HSCR), genitourinary anomalies (in particular hypospadias in males), @PHENOTYPICFEATURE$, agenesis of the corpus callosum and eye anomalies.	false
+a4a90270529e98608c080160ca85573aa106936b	@DISEASE$ (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, @PHENOTYPICFEATURE$ and eye anomalies.	false
+ee41d458b31e0cf64e9ef11ad69336614ce403db	@DISEASE$ (SoJIA) is characterized by arthritis, @PHENOTYPICFEATURE$ and visceral organ involvement including hepatosplenomegaly, lympadenopathy and serositis.	has_symptom
+c847c72f83f9b05649952d1990a23150f7c084f9	Diagnosis of @DISEASE$ was postulated upon the long persistence of @PHENOTYPICFEATURE$ and inflammatory signs, which subsided only after starting corticosteroid treatment.	has_symptom
+4aea106bb9e92099ee8a3a1d676b042b9276877c	The authors report a case of @DISEASE$ who presented with @PHENOTYPICFEATURE$, excruciating neck pain and stiffness followed by respiratory difficulty after few days of onset of illness.	has_symptom
+f0bf167a1154130b27da65a5e369507e860d9b33	The case presented here shows diagnostic difficulties in a patient with silicone breast implants and @PHENOTYPICFEATURE$ with @DISEASE$.	has_symptom
+7fa927e8db3ab958d27bfc433b2daeb782e139d8	Included were cases of Schnitzler syndrome, @DISEASE$, systemic lupus erythematosus, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, @PHENOTYPICFEATURE$, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	has_symptom
+2a0e856ea7cf49ef6b1fdcf9c39ccd493126bb82	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, @DISEASE$, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+d9e91235e358af064465de28dc05bb52062ecc7c	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, @DISEASE$, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+12c7ed10f36d302fe9c89b67c75f601ef2a6acb1	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, @DISEASE$, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+3db8026341156f07953c3ed066cb7a6ab752ea0d	Included were cases of Schnitzler syndrome, @DISEASE$, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+a39727cada968c763951f3e18d2af44eb2da69b5	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, @DISEASE$, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+1ee9b34a9c68a1edd447633a832b1a56ad1d64cc	Included were cases of @DISEASE$, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+0381a3d79acfc18e490f32892effe2862fd4ad17	Included were cases of Schnitzler syndrome, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, @DISEASE$, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+dc8f84e431ac652619a12a6f637419b4a22ae303	We described the frequency of significant Holter findings in @DISEASE$, the relationship between cardiac function and @PHENOTYPICFEATURE$ burden, and the impact of these findings on clinical management.	has_symptom
+6e2fdfda87ba45f344944165328a00e33134f006	Duchenne muscular dystrophy (@DISEASE$), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+b18af08081bc0c626546c04a588c6f2e350d75ee	@DISEASE$ (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+0680e0b19d7f067f5261d42dc778bbbd8f201e82	Subgroup analysis of Holters from patients with @DISEASE$ demonstrated that arrhythmias increased with decreasing ejection fraction regardless of age, but that age was also a significant predictor of @PHENOTYPICFEATURE$ development.	has_symptom
+129ee2cbd50b1ff89ae108ef9d977253d915f83d	Patients with @DISEASE$ (DMD) are at risk of developing cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+b4e4ff017a99c6e726dafbfd5e7428f88756005d	Patients with Duchenne muscular dystrophy (@DISEASE$) are at risk of developing cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+52e34c3966878601d755de9547c393d7535d3970	Patients with @DISEASE$ (DMD) have a progressive dilated cardiomyopathy associated with fatal @PHENOTYPICFEATURE$.	has_symptom
+240445ba911f11278f56c86873c773ba3801a0d7	Patients with Duchenne muscular dystrophy (@DISEASE$) have a progressive dilated cardiomyopathy associated with fatal @PHENOTYPICFEATURE$.	has_symptom
+9a7bd972a778a74310e2a0fdc0a174713dcf279e	@DISEASE$ (DMD), caused by mutations in the gene encoding for the cytoskeletal protein dystrophin, is linked with severe cardiac complications including cardiomyopathy development and @PHENOTYPICFEATURE$.	has_symptom
+d6f1ab36fdf976abcb8af7528d496bbb023f9f12	Duchenne muscular dystrophy (@DISEASE$), caused by mutations in the gene encoding for the cytoskeletal protein dystrophin, is linked with severe cardiac complications including cardiomyopathy development and @PHENOTYPICFEATURE$.	has_symptom
+81571d2b66c416e6b93f3c936859741c0f8a5cdc	The data sets included metabolic profiles from mouse models of @DISEASE$, two models of @PHENOTYPICFEATURE$, and one of cardiac hypertrophy.	has_symptom
+ceaf6dde9a525820fabc5889923aefffd71e0507	The association between systolic cardiac dysfunction and @PHENOTYPICFEATURE$ development in patients with Duchenne muscular dystrophy (@DISEASE$) or Becker muscular dystrophy (BMD) is generally assumed but has not been extensively studied.	has_symptom
+3619f201dbea083fe0ad08ba89756bc87415ad6f	The association between systolic cardiac dysfunction and @PHENOTYPICFEATURE$ development in patients with @DISEASE$ (DMD) or Becker muscular dystrophy (BMD) is generally assumed but has not been extensively studied.	has_symptom
+fad55195879326a385696acb5aaf0c11cd408403	N-Acetylaspartic acid accumulates in @DISEASE$, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, @PHENOTYPICFEATURE$ and generalized tonic and clonic type seizures.	has_symptom
+9ecece64cfbb960a5c914cf5b6b867187171a513	N-Acetylaspartic acid accumulates in @DISEASE$, a severe inherited neurometabolic disease clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly and generalized tonic and clonic type seizures.	false
+f9ad3ba401f58eb71a85f28ce4f183a799307a97	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited @DISEASE$ clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly and generalized tonic and clonic type seizures.	false
+7a0d8fc6f058f5ac02869810d484c031ccf3bb12	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited neurometabolic disease clinically characterized by @PHENOTYPICFEATURE$, hypotonia, @DISEASE$ and generalized tonic and clonic type seizures.	false
+b14ed369ab1cd91905f9e0a865c3cdab56d06a41	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, @DISEASE$ and generalized tonic and clonic type @PHENOTYPICFEATURE$.	false
+2c9f7bb251e867f035534bbdb1c6bb5f2b181e4e	N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited @DISEASE$ clinically characterized by severe mental retardation, hypotonia, macrocephaly and generalized tonic and clonic type @PHENOTYPICFEATURE$.	false
+ed001f61c19b0ec46379f904df238fbb77baa45e	N-Acetylaspartic acid accumulates in @DISEASE$, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, macrocephaly and generalized tonic and clonic type @PHENOTYPICFEATURE$.	false
+f8c7da364f7b8dd0f425eebd07824b8f98bb9eba	@DISEASE$ (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5?months of life, @PHENOTYPICFEATURE$ and poor head control, weak cry and suck, development regression and hypotonia.	has_symptom
+0b2dac8bb9dce9c0d87ae6c786c9aef07a91bde9	Hypotonia, head lag and @PHENOTYPICFEATURE$ are characteristic of @DISEASE$ and become apparent after 5-6 months of age.	has_symptom
+d37db06b6fdca24c07ad508b2af50d411a965b93	@DISEASE$ is a severe autosomal recessive leukodystrophy characterized by @PHENOTYPICFEATURE$, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	has_symptom
+949c92d4bcf83041997bdacd98d5f4088473cf59	Canavan disease is a severe autosomal recessive leukodystrophy characterized by @DISEASE$, ataxia, severe motor and @PHENOTYPICFEATURE$, dysmyelination, and progressive spongial atrophy of the brain.	false
+af741dafa8b2502174d272ffddabd3349456e5b2	@DISEASE$ is a severe autosomal recessive leukodystrophy characterized by macrocephaly, @PHENOTYPICFEATURE$, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+84549db1602bcda140c3e37a055905fcd111bd87	@DISEASE$ is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and @PHENOTYPICFEATURE$, dysmyelination, and progressive spongial atrophy of the brain.	false
+ad484af21a2f39a562c5815cea0935fa59b83955	Canavan disease is a severe autosomal recessive leukodystrophy characterized by @DISEASE$, @PHENOTYPICFEATURE$, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+0bc6ab93a5a478c909a198336126b58b4a498078	Canavan disease is a severe autosomal recessive @DISEASE$ characterized by macrocephaly, @PHENOTYPICFEATURE$, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+bfd6c823cf80ae9cea3111cf010098c5eda50a11	Canavan disease is a severe autosomal recessive @DISEASE$ characterized by macrocephaly, ataxia, severe motor and @PHENOTYPICFEATURE$, dysmyelination, and progressive spongial atrophy of the brain.	false
+31988255f3607f1cb8022a59f2c01c6f0f4571b5	@DISEASE$ (CD) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and progressive leukodystrophy.	has_symptom
+3d73a41d59193fa4edd9b4cfbaba6593d761ac6d	@DISEASE$ is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, @PHENOTYPICFEATURE$ and blindness.	has_symptom
+710e6fd3fc31e2e02b354e42a8a31e7448f2e369	Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+94092273b05586bc9fae0913d7e5819ddc4a1123	Canavan disease is an autosomal recessive @DISEASE$ characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and @PHENOTYPICFEATURE$.	false
+95cbf2468df9751c1b914df4b722f342098a3ef2	@DISEASE$ is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and @PHENOTYPICFEATURE$.	false
+2c12a922cf6ac9bf2a02f30621fa544ac3f713bf	N-Acetylaspartic acid (NAA) accumulates in @DISEASE$, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, @PHENOTYPICFEATURE$, and seizures.	has_symptom
+af4c50be2d1dc918a96d883676b0673d8c916e25	N-Acetylaspartic acid (NAA) accumulates in Canavan disease, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b67d4610f5213f3c5496f793578ccce0f77adb53	N-Acetylaspartic acid (NAA) accumulates in @DISEASE$, a severe inherited neurometabolic disorder clinically characterized by mental retardation, hypotonia, macrocephaly, and @PHENOTYPICFEATURE$.	false
+c56890e82c73dc5ca98c25c623bbbaf2641aba96	N-Acetylaspartic acid (NAA) accumulates in @DISEASE$, a severe inherited neurometabolic disorder clinically characterized by @PHENOTYPICFEATURE$, hypotonia, macrocephaly, and seizures.	false
+717c18d1652f91f00d7a5939bc6c4b04df6042d7	N-Acetylaspartic acid (NAA) accumulates in Canavan disease, a severe inherited neurometabolic disorder clinically characterized by @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, and seizures.	false
+1fe03ce35fe6652acf551af566c887c1b3d5899a	Associated findings included @DISEASE$ (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, @PHENOTYPICFEATURE$ and ambiguous genitalia.	has_symptom
+ddeacbe0f1871569f64453e5c18615b8cead783b	@PHENOTYPICFEATURE$ is one of the common features of @DISEASE$ (SEDC).	has_symptom
+6a57ab7fbdff3e12801f34df0e40f8ef27942a44	@DISEASE$ (SEDC) is a rare, inheritable condition that can include dwarfism, @PHENOTYPICFEATURE$, and C(1-2) instability.	has_symptom
+ec3246e72dfdc6ef332ab4c8163dda64f98e4d04	@DISEASE$ (SEDC) is an inherited disorder of bone growth that results in short-trunk dwarfism, skeletal abnormalities, disorders in vision and hearing, atlanto-axial instability, and @PHENOTYPICFEATURE$.	has_symptom
+d37ae49f81729d0f813d237a005b4aa597d603ac	@DISEASE$ (SEDC) is an inherited disorder of bone growth that results in short-trunk dwarfism, @PHENOTYPICFEATURE$, disorders in vision and hearing, atlanto-axial instability, and cleft palate.	false
+16b2573f007760afb042f82f03232047c6111171	Spondyloepiphyseal dysplasia congenita (SEDC) is an inherited disorder of bone growth that results in short-trunk dwarfism, @PHENOTYPICFEATURE$, disorders in vision and hearing, atlanto-axial instability, and @DISEASE$.	false
+4d7114c21a43572b534568ac6fe4e4a905495b36	A 10-month-old girl, with @DISEASE$ and posterior @PHENOTYPICFEATURE$ had presented at 23 days of life with history of feeding difficulties.	has_symptom
+f77f66add28148c675b0c3f17d59e1f496842a22	@DISEASE$ is a rare tumor, however @PHENOTYPICFEATURE$ is common disease.	has_symptom
+a410625a4e21f8bf5afb099bc43a986e32a6f73b	@DISEASE$ is a rare @PHENOTYPICFEATURE$, however heart failure is common disease.	false
+6d5758f4ee7658903acd0ba15d061a054af82407	TSH secreting pituitary adenoma is a rare @PHENOTYPICFEATURE$, however @DISEASE$ is common disease.	false
+55a404513ae8126efdae8599b148e38dc67e6fa0	@DISEASE$ should be taken into consideration in patients with @PHENOTYPICFEATURE$.	has_symptom
+8d5c64cfedf63e9da71635c0c2dc71bb43bf59ff	We report the case of a young Chinese man presenting with thyrotoxicosis, complicated by @PHENOTYPICFEATURE$, secondary to a @DISEASE$.	has_symptom
+2ca9114dc86131051863bb53aaf20417e6d9abd5	Increased bone turnover and other less frequent comorbidities of hyperthyroidism, such as @PHENOTYPICFEATURE$, have only rarely been reported in association with central hyperthyroidism due to a thyrotropin (TSH)-secreting pituitary adenoma (@DISEASE$).	has_symptom
+419a1a2bc224b8ed1348ac58e4f6255ecbd185cf	Oculocerebral @PHENOTYPICFEATURE$ syndrome (@DISEASE$) in a Gipsy child.	has_symptom
+3aee3dece254c56ea95e6e2aea49e20d41e0305a	Oculocerebral @PHENOTYPICFEATURE$ syndrome (@DISEASE$).	has_symptom
+ec0ef1b20cfe453878fe1e0723f25774a4cf7cec	Oculocerebral syndrome with @PHENOTYPICFEATURE$ (@DISEASE$).	has_symptom
+b56c5aea700b9c8d82d479e427e6835388f2602a	Oculocerebral syndrome with @PHENOTYPICFEATURE$ (@DISEASE$): report of a new case.	has_symptom
+9f76fad184a8b17015a1d0fcd9c208e87ad667c0	Although the neurologic and ocular anomalies might have been accounted for by his extreme prematurity, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the oculocerebral @PHENOTYPICFEATURE$ syndrome (@DISEASE$).	has_symptom
+daa62085f320c6196bb2ac912bba46200119929e	A new case of oculocerebral @PHENOTYPICFEATURE$ syndrome (@DISEASE$) with additional findings.	has_symptom
+05ef9ee3ddc128732e29347b57e40389da6224c0	This novel entity, known as oculocerebral @PHENOTYPICFEATURE$ syndrome (OCHS) or @DISEASE$ (OMIM 257800), is assumed to be autosomal recessive.	has_symptom
+ef8b14fb0349e00dd9781fe3d6dd94522de31e73	A typical case of @DISEASE$ with @PHENOTYPICFEATURE$, mental and psychomotor retardation, spasticity, bilateral optic atrophy and dental defects in a three-year-old boy is presented.	has_symptom
+2b64b14afad7e3b8412b134402ff50312fcc81ea	A typical case of Cross syndrome with @DISEASE$, mental and psychomotor retardation, spasticity, bilateral @PHENOTYPICFEATURE$ and dental defects in a three-year-old boy is presented.	false
+7ebe87a683ac6bdae7b22ffab160a1d0e3cc5b8a	A typical case of @DISEASE$ with hypopigmentation, mental and psychomotor retardation, @PHENOTYPICFEATURE$, bilateral optic atrophy and dental defects in a three-year-old boy is presented.	false
+d8f0537e4e346f9374e27bd4a9bc9b9ad57d9b6d	A typical case of @DISEASE$ with hypopigmentation, mental and psychomotor retardation, spasticity, bilateral @PHENOTYPICFEATURE$ and dental defects in a three-year-old boy is presented.	false
+3903578fd91be18cf8ad2599f277cc88959132af	A typical case of Cross syndrome with @DISEASE$, mental and psychomotor retardation, @PHENOTYPICFEATURE$, bilateral optic atrophy and dental defects in a three-year-old boy is presented.	false
+da01e9f8529f8614a61ef8bcb5cb5ee67f7a7298	@DISEASE$ is a rare syndrome characterized by ocular and cutaneous @PHENOTYPICFEATURE$ and neurological manifestations.	has_symptom
+3f88902927d79fc2c3f57081d5f7d85f95d0b446	Oculocerebral syndrome with @PHENOTYPICFEATURE$ (@DISEASE$): the mixed pattern of hair pigmentation as an important diagnostic sign.	has_symptom
+aef9ad2d9f7c84c6b06fe060bf1dc9b88fc78cd6	The hypertrichosis cubiti also named "@DISEASE$" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including @PHENOTYPICFEATURE$, facial dysmorphism, developmental delay and bone anomalies.	has_symptom
+d0903b5e98da4c18a19b6c779f0b126e48b38fb3	The hypertrichosis cubiti also named "hairy elbow syndrome" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including @DISEASE$, @PHENOTYPICFEATURE$, developmental delay and bone anomalies.	false
+aa98cd1e9d15391d1e7442dcab5f0553776882d0	The hypertrichosis cubiti also named "@DISEASE$" is a benign anomaly which occurs as an isolated sign but sometime it may be associated with others abnormalities including short stature, @PHENOTYPICFEATURE$, developmental delay and bone anomalies.	false
+ce3e3904cf2bd3c56fb6445a1f554b6478936d34	[@DISEASE$ and specificity of its care - a case associated with @PHENOTYPICFEATURE$].	has_symptom
+989a32c2f6d7f976e0fbdb1a147758e6420d1b5e	From September 1976 to August 1988, 205 patients with @DISEASE$ (Kawasaki disease) were evaluated; 29 were suspected of having coronary artery abnormalities because of either abnormalities on echocardiography (n = 21), @PHENOTYPICFEATURE$ (n = 3), prolonged fever (n = 3) or cardiac arrest (n = 2).	has_symptom
+37adb8779502acac43523040882c0b8a52d9edb3	@DISEASE$ is a rare aggressive @PHENOTYPICFEATURE$ of the peritoneum.	has_symptom
+0dbd936412323aa53a7232bacb1f941f4934778e	[@DISEASE$ @PHENOTYPICFEATURE$.	has_symptom
+23954668b976fe126e29a8d3306b17bf056f5f61	@DISEASE$ and ocular melanoma are both rare @PHENOTYPICFEATURE$.	has_symptom
+62db6e0fb748ae50998d8d0e2ae4b5a51331995b	Collision @PHENOTYPICFEATURE$ of hepatocellular carcinoma and @DISEASE$.	has_symptom
+a2162366aa69f07131587c4a8c8b62d98ba1c18a	Although rare, @DISEASE$ should be considered in differential diagnosis of colorectal @PHENOTYPICFEATURE$.	has_symptom
+cd5c3a5aa17c6e1b31006e94b9f8e3baee215b8c	@DISEASE$ (MPM) is an uncommon @PHENOTYPICFEATURE$.	has_symptom
+37adb8779502acac43523040882c0b8a52d9edb3	@DISEASE$ is a rare aggressive @PHENOTYPICFEATURE$ of the peritoneum.	has_symptom
+8bee6cfbaa38784366acb6976e7c7de78ff5eb9c	@DISEASE$ is a rare @PHENOTYPICFEATURE$ whose prognosis is poor.	has_symptom
+51890f59daee9f1956679433d33ffc1cb0fdaf05	After extensive pathological evaluation, the @PHENOTYPICFEATURE$ was diagnosed as @DISEASE$.	has_symptom
+5b2fc530f659114d1afe44c4ef1ce86f3f53763b	Prognosis of malignant peritoneal mesothelioma remains poor, and @DISEASE$ should be considered when diagnosing peritoneal @PHENOTYPICFEATURE$.	has_symptom
+260ecb65bab87dc32b67349caf5f420d955063d8	Prognosis of @DISEASE$ remains poor, and malignant peritoneal mesothelioma should be considered when diagnosing peritoneal @PHENOTYPICFEATURE$.	has_symptom
+4cb6818950359c96158c7702d940e67674cb1f51	@DISEASE$ (NBS) is characterized by growth retardation, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	has_symptom
+9953192198846cdb876ecd28bf620b1cb74fa5bf	Nijmegen breakage syndrome (@DISEASE$) is characterized by growth retardation, microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	has_symptom
+6ba0f77e670ea339754b507075b4792c3cc93865	Nijmegen breakage syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	false
+f3b2d5c2a584c6aee5d51b9f7368adc8a1c4cec7	@DISEASE$ (NBS) is characterized by growth retardation, @PHENOTYPICFEATURE$, mental retardation, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	false
+2279739244a0d7be2fdd4fa8c6db55c35ac0e136	@DISEASE$ (NBS) is characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	false
+2c86876e97b2861a824b5db117686ee71c7dc30a	Nijmegen breakage syndrome (NBS) is characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, immunodeficiency, and predisposition to @DISEASE$, especially B-cell lymphomas.	false
+5a6802e9df8980f5622297b985baded67f96f151	Nijmegen breakage syndrome (NBS) is characterized by @PHENOTYPICFEATURE$, microcephaly, @DISEASE$, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	false
+9bb693b818339de8faba68957d32739674a3aff0	Nijmegen breakage syndrome (NBS) is characterized by growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	false
+43d969389d6b0fe8bc077cb40e862726e27c7a6e	Nijmegen breakage syndrome (NBS) is characterized by growth retardation, @PHENOTYPICFEATURE$, mental retardation, immunodeficiency, and predisposition to @DISEASE$, especially B-cell lymphomas.	false
+0d2e35dc443862e87ebb841acb03a5d653e8b940	Nijmegen breakage syndrome (@DISEASE$) is characterized by growth retardation, @PHENOTYPICFEATURE$, mental retardation, immunodeficiency, and predisposition to malignancies, especially B-cell lymphomas.	false
+1f0411f8971b5b7c13a076bad52c697158ab364e	Nijmegen breakage syndrome (NBS) is characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, @DISEASE$, and predisposition to malignancies, especially B-cell lymphomas.	false
+d61714efcd7575c1ea325547265d6ba88d31dcd6	Nijmegen breakage syndrome (NBS) is characterized by growth retardation, @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and predisposition to malignancies, especially B-cell lymphomas.	false
+8c4c434c212cd73eb470da22f21b92adfb4d0734	Nicolaides-Baraitser syndrome (@DISEASE$) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and @PHENOTYPICFEATURE$.	has_symptom
+502a8bc2a7edace56ddf35adec23c1ff4bc1a9d3	Nicolaides-Baraitser syndrome (@DISEASE$) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and intellectual disability.	false
+72463f56e177dd920adab406808e6e8c5d3f3a46	Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and @DISEASE$.	false
+4f1f4e81987189feb97fc6286d650ad4cb520fde	@DISEASE$ (NBS) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and intellectual disability.	false
+5c204e3657c59964b9374b19ca5a87a95018dc11	Phenylketonuria (PKU) was the first inherited metabolic disease known to cause @PHENOTYPICFEATURE$ for which a newborn screening program (@DISEASE$) was developed.	has_symptom
+15cdd0f34efe47bf32fb8ee0931731becace77f0	The rare autosomal recessive @DISEASE$ is characterised by severe immunodeficiency, microcephaly associated with @PHENOTYPICFEATURE$, and typical chromosomal rearrangements in peripheral T lymphocytes.	has_symptom
+242ee93bac586cc168f5db1ea585f27a2c0bb1a5	The rare autosomal recessive @DISEASE$ is characterised by severe immunodeficiency, @PHENOTYPICFEATURE$ associated with mental retardation, and typical chromosomal rearrangements in peripheral T lymphocytes.	false
+fce1b9fc55cc136144fc00ee8edfc5bc865d243c	The rare autosomal recessive Nijmegen breakage syndrome is characterised by severe immunodeficiency, @PHENOTYPICFEATURE$ associated with @DISEASE$, and typical chromosomal rearrangements in peripheral T lymphocytes.	false
+4f2f4740f84495d786a5af5e1862894fd1258b9a	The rare autosomal recessive Nijmegen breakage syndrome is characterised by severe @DISEASE$, @PHENOTYPICFEATURE$ associated with mental retardation, and typical chromosomal rearrangements in peripheral T lymphocytes.	false
+9537832ccd9f033a7fef156b13316798c93dbc5b	Here, we report on a patient previously diagnosed as probably having @DISEASE$, with microcephaly, @PHENOTYPICFEATURE$, 'bird-like' face, and short stature.	has_symptom
+ec8dc1242ae4eec8066a0d1ac3f7af73d4c0d7e5	Here, we report on a patient previously diagnosed as probably having NBS, with @PHENOTYPICFEATURE$, @DISEASE$, 'bird-like' face, and short stature.	false
+be28be2426deebc85ca5e894de28972ae0c7797a	Here, we report on a patient previously diagnosed as probably having @DISEASE$, with microcephaly, mental retardation, 'bird-like' face, and @PHENOTYPICFEATURE$.	false
+5aa6e24d5eaf76dbc26ecb5836f6c20259b55881	Here, we report on a patient previously diagnosed as probably having @DISEASE$, with @PHENOTYPICFEATURE$, mental retardation, 'bird-like' face, and short stature.	false
+08d343f3ef62d04af08a7210dc263e3de78a7234	Here, we report on a patient previously diagnosed as probably having NBS, with microcephaly, @DISEASE$, 'bird-like' face, and @PHENOTYPICFEATURE$.	false
+29f0d60dc882eb1d24941320a202944de8e9e163	Mutations in the NBN gene underlie Nijmegen breakage syndrome (@DISEASE$), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and @PHENOTYPICFEATURE$, and cellular radiosensitivity.	has_symptom
+5f9d406c26ef6f3f433b326e98b0bb7c0c85184f	Mutations in the NBN gene underlie @DISEASE$ (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and @PHENOTYPICFEATURE$, and cellular radiosensitivity.	has_symptom
+902fee2ec585f97bafa065ae4e1c0ba7296ff695	Mutations in the NBN gene underlie @DISEASE$ (NBS), a chromosomal instability syndrome characterized by @PHENOTYPICFEATURE$, bird-like faces, growth and mental retardation, and cellular radiosensitivity.	false
+d254d30a5da8d4d42a4ed38d5f10027139c7fc4a	Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by @PHENOTYPICFEATURE$, bird-like faces, growth and @DISEASE$, and cellular radiosensitivity.	false
+117443365de23641a0f807d45051a86026668569	Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability @DISEASE$ characterized by @PHENOTYPICFEATURE$, bird-like faces, growth and mental retardation, and cellular radiosensitivity.	false
+ec666677922c8fe5189c60a83ddf04f49e624244	Mutations in the NBN gene underlie Nijmegen breakage syndrome (@DISEASE$), a chromosomal instability syndrome characterized by @PHENOTYPICFEATURE$, bird-like faces, growth and mental retardation, and cellular radiosensitivity.	false
+e59a63c17113fa5432b2f0f6f6e28bfe705b3189	Nijmegen Breakage Syndrome (@DISEASE$) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, microcephaly, @PHENOTYPICFEATURE$ and a disposition for the development of hematological malignancies.	has_symptom
+01eeb0ff580b3e9fdb51d186409afae4b1992ca6	Nijmegen Breakage Syndrome (@DISEASE$) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, @PHENOTYPICFEATURE$, mental retardation and a disposition for the development of hematological malignancies.	false
+d271170389cb21e66eeb7f050e1170ec4b1a80f2	Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, @PHENOTYPICFEATURE$, @DISEASE$ and a disposition for the development of hematological malignancies.	false
+e81e88b37a025762b55c796dbb3ef848976241d4	Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, @PHENOTYPICFEATURE$, mental retardation and a disposition for the development of @DISEASE$.	false
+82bc3e1382d3266a19274f754076c31d74c5f1a6	Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive @DISEASE$ characterized by immune deficiency, @PHENOTYPICFEATURE$, mental retardation and a disposition for the development of hematological malignancies.	false
+4f16b5c89ece48c4b816dc2c29c16e093bd78f24	All 50 states and the District of Columbia conduct newborn screening (@DISEASE$) programs that annually screen approximately 4 million infants for metabolic and other disorders to prevent @PHENOTYPICFEATURE$, disability, and death.	has_symptom
+6a0d2f924c97eff0280ea1548ab7af8d2590a0c6	Other "A-T variants" include: (1) @DISEASE$ (NBS) or nibrin/Nbs1 deficiency, with microcephaly and @PHENOTYPICFEATURE$ but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	has_symptom
+f871c5abeb443b3a27f4239da8555a4fd9e34afb	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with microcephaly and @PHENOTYPICFEATURE$ but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both @DISEASE$ and A-T, with mutations in the ATM gene.	has_symptom
+563303287b8f1041c37cde651eddca7696f422aa	Other "A-T variants" include: (1) Nijmegen breakage syndrome (@DISEASE$) or nibrin/Nbs1 deficiency, with microcephaly and @PHENOTYPICFEATURE$ but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	has_symptom
+98f16052c4d9d9836d9a800c81cd6da264b7f0e0	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with @PHENOTYPICFEATURE$ and @DISEASE$ but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+76957385d61855651bafc4e6b1f3f236f3700c12	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with microcephaly and mental retardation but without @PHENOTYPICFEATURE$, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both @DISEASE$ and A-T, with mutations in the ATM gene.	false
+9e18b4c3de3031fb84c1d0f68ae6b07d1f08c38b	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with microcephaly and @DISEASE$ but without @PHENOTYPICFEATURE$, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+0a85d895bb49666465ea92cf051b826aa8171f7f	Other "A-T variants" include: (1) @DISEASE$ (NBS) or nibrin/Nbs1 deficiency, with microcephaly and mental retardation but without @PHENOTYPICFEATURE$, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+1e427ef2d61e912cc22a39c83e4fcfcaf039f04e	Other "A-T variants" include: (1) Nijmegen breakage syndrome (@DISEASE$) or nibrin/Nbs1 deficiency, with @PHENOTYPICFEATURE$ and mental retardation but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+d2cc94707765720803dbf9572b1f4af84077dd1a	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with microcephaly and mental retardation but without @PHENOTYPICFEATURE$, apraxia, or @DISEASE$, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+a445aa2c26f13b4edd9ed8e52a0760f0540d2f30	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with @PHENOTYPICFEATURE$ and mental retardation but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both @DISEASE$ and A-T, with mutations in the ATM gene.	false
+0705308b3ee3e111e6b41f4b1052950c07e73595	Other "A-T variants" include: (1) @DISEASE$ (NBS) or nibrin/Nbs1 deficiency, with @PHENOTYPICFEATURE$ and mental retardation but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+a6325a8813bf8c3108d73802a3220750730de5f8	Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with @PHENOTYPICFEATURE$ and mental retardation but without ataxia, apraxia, or @DISEASE$, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+3f1a58721407f620ceb1f341e327b2983f8f3e6a	Other "A-T variants" include: (1) Nijmegen breakage syndrome (@DISEASE$) or nibrin/Nbs1 deficiency, with microcephaly and mental retardation but without @PHENOTYPICFEATURE$, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene.	false
+3f1bdfe33e73d7959b0ebf691d97debd25ba01c1	Likewise, @DISEASE$ is unlikely to be the case because the characteristic face, hyperpigmented spots, and @PHENOTYPICFEATURE$ present in the syndrome were missing in the girl.	has_symptom
+4ece5ce7837f952721dce5ff25c0cd6d7b21a5cd	@DISEASE$ (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as @PHENOTYPICFEATURE$, orofacial, hand or limb malformations, urogenital anomalies, and heart defects.	has_symptom
+ed130c3912b37ac42b21ed5b226ed69180100766	@DISEASE$ (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as growth retardation, orofacial, hand or limb malformations, urogenital anomalies, and @PHENOTYPICFEATURE$.	false
+941621ad1818b1be5a3eb863ba962fea2acb0231	Diamond Blackfan anemia (DBA) is a genetic syndrome characterized by red blood cell aplasia in association with developmental abnormalities such as @DISEASE$, orofacial, hand or limb malformations, urogenital anomalies, and @PHENOTYPICFEATURE$.	false
+fc4cbf3a6491544a223a44146adccc86674b2483	Diamond Blackfan anemia (DBA) is a genetic @DISEASE$ characterized by red blood cell aplasia in association with developmental abnormalities such as growth retardation, orofacial, hand or limb malformations, urogenital anomalies, and @PHENOTYPICFEATURE$.	false
+fd8186f33d4460d0b226d4311175bace82b70587	To study the frequency and risk factors of @PHENOTYPICFEATURE$ (GR) in patients with @DISEASE$.	has_symptom
+d5bd4b7757ab6ec5273d5b533aa9c81e308d0af1	@DISEASE$ is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up to 50% of patients, @PHENOTYPICFEATURE$ in up to 30% of patients, and a predisposition to malignancy.	has_symptom
+176fbd88ca6203bddc77f67337bfc9c7d0654e75	Approximately 50% of patients with @DISEASE$ exhibit @PHENOTYPICFEATURE$ and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and congenital heart defects.	has_symptom
+4cf73ab630a3d1e8b6495814d943a326797f9898	Approximately 50% of patients with DBA exhibit growth retardation and multiple @DISEASE$, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and @PHENOTYPICFEATURE$.	false
+16c96390f427fe82faf4eca18d3cb4cc2e97e9a0	Approximately 50% of patients with @DISEASE$ exhibit growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+6120e124845c1fc9d6afb1754d06ff2df79c709e	Approximately 50% of patients with DBA @DISEASE$ growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and @PHENOTYPICFEATURE$.	false
+cdfe92068e9c6a35074b5d282509a0f9403515b4	Approximately 50% of patients with DBA exhibit @DISEASE$ and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+d99f6e40e69e34b67c05c7e46bd675241e8675de	Approximately 50% of patients with DBA @DISEASE$ growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+405846ca4a90251f91df16a5d932cc26691f54f0	Approximately 50% of patients with DBA exhibit growth retardation and multiple @DISEASE$, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+85f8c20603099d41994ca53f509032cd6c361569	Approximately 50% of patients with DBA exhibit @DISEASE$ and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and @PHENOTYPICFEATURE$.	false
+9653ad489e02dcfe3476648dab1df348f2d5adfe	Approximately 50% of patients with @DISEASE$ exhibit growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-limb abnormalities, urogenital malformations, and @PHENOTYPICFEATURE$.	false
+f0d6ba45e12555d6aaf71f0fc477e46f85473907	A patient with a pure red cell aplasia (@DISEASE$), and with many congenital abnormalities and @PHENOTYPICFEATURE$, has been found to have a chromosome breakage syndrome.	has_symptom
+2c916af86acfc8ff3f47aea57fd2b66087d5e332	The association of @PHENOTYPICFEATURE$ with the @DISEASE$.	has_symptom
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+24674ba4e786c840b1004a938ffc17c3a97ed2ce	The purpose of this paper was to describe the clinical case of a 12-year-old female patient with @DISEASE$ (KFS) combined with Turner syndrome (TS) and a submucous @PHENOTYPICFEATURE$ (CP).	has_symptom
+4559efc212152c8efa5353970d507e07ae504c98	We report on a father and his two daughters diagnosed with @DISEASE$ (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and @PHENOTYPICFEATURE$) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS).	has_symptom
+ffda43021135ccfdf142d81f17a123f612730da9	We report on a father and his two daughters diagnosed with @DISEASE$ (KFS) but with craniofacial differences (zygomatic and @PHENOTYPICFEATURE$ and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS).	false
+ec2fce4a62506a679afcb1dd17b61355f1dee2d8	We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and @PHENOTYPICFEATURE$ and @DISEASE$) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS).	false
+713d501bcbac7e7973fa768f59ebf5031af83830	We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and @PHENOTYPICFEATURE$ and cleft palate) and external ear abnormalities suggestive of @DISEASE$ (TCS).	false
+4fa8d846c58f0c0c18430f3449da61db46752f17	The @DISEASE$ is of special interest to those concerned with cleft palate for the following reasons: (1) Cleft palate is a commonly associated finding: (2) malformations of the cervical vertebrae, in the absence of other stigmata of the syndrome, are a common finding in @PHENOTYPICFEATURE$; (3) anomalies of the upper cervical column and cranial base can impede velopharyngeal valving; (4) hearing loss is a common finding in the syndrome irrespective of the presence or absence of cleft palate; (5) cervical anomalies may complicate endotracheal intubation or head extension during pharyngeal surgery, and (5) the short neck may be the primary defect that impedes palatal fusion.	has_symptom
+7e071184c2023b80d71abbae54e5f664708fc6f3	The @DISEASE$ is of special interest to those concerned with cleft palate for the following reasons: (1) Cleft palate is a commonly associated finding: (2) malformations of the cervical vertebrae, in the absence of other stigmata of the syndrome, are a common finding in cleft palate; (3) anomalies of the upper cervical column and cranial base can impede velopharyngeal valving; (4) hearing loss is a common finding in the syndrome irrespective of the presence or absence of @PHENOTYPICFEATURE$; (5) cervical anomalies may complicate endotracheal intubation or head extension during pharyngeal surgery, and (5) the short neck may be the primary defect that impedes palatal fusion.	has_symptom
+d27bd4510fb784d59f313ac80194248050f0dae4	The @DISEASE$ is of special interest to those concerned with @PHENOTYPICFEATURE$ for the following reasons: (1) Cleft palate is a commonly associated finding: (2) malformations of the cervical vertebrae, in the absence of other stigmata of the syndrome, are a common finding in cleft palate; (3) anomalies of the upper cervical column and cranial base can impede velopharyngeal valving; (4) hearing loss is a common finding in the syndrome irrespective of the presence or absence of cleft palate; (5) cervical anomalies may complicate endotracheal intubation or head extension during pharyngeal surgery, and (5) the short neck may be the primary defect that impedes palatal fusion.	has_symptom
+e69073d8bf2bec536969142bf05aacd046f13de0	A 12-year-old female with @DISEASE$ (KFS) combined with Turner syndrome (TS) and a submucous @PHENOTYPICFEATURE$ (CP) was presented.	has_symptom
+c706647171d7d1164cff431f493e4dc2286b5d72	Rare association of @DISEASE$ with @PHENOTYPICFEATURE$ and congenital cardiac deformities: a case report.	has_symptom
+c9cdc4953103f5ea1af22e752d79bd17ba14a511	We report a case of @DISEASE$ in an 18-month-old girl posted for @PHENOTYPICFEATURE$ surgery.	has_symptom
+2c916af86acfc8ff3f47aea57fd2b66087d5e332	The association of @PHENOTYPICFEATURE$ with the @DISEASE$.	has_symptom
+95c1c550c9c48e1035d3c32c563bac100d86c44d	[Anthropomorphological characteristics of @DISEASE$ with @PHENOTYPICFEATURE$].	has_symptom
+f38e3a289653505cba50cd906d7c83af1da303d4	The patient presented with diabetes mellitus, @PHENOTYPICFEATURE$, short stature, and mental @DISEASE$.	has_symptom
+93b6583253f17efec95f85d757dda9c1788364c3	The patient presented with diabetes mellitus, sensorineural deafness, @PHENOTYPICFEATURE$, and mental @DISEASE$.	false
+a2cda570bbfa0cd336d109097539a2cdbf0ffe98	The patient presented with diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$, and mental disorientation.	false
+45ec51807db5cec1b602288b8360e331c9020fb2	The patient presented with @DISEASE$, sensorineural deafness, @PHENOTYPICFEATURE$, and mental disorientation.	false
+29e9f08cc259ef82db1ed110674700172f6f9baa	@PHENOTYPICFEATURE$ and male infertility (@DISEASE$; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3.	has_symptom
+cc2965405d1cb9deb9acc7fdd704d823048f03b6	@PHENOTYPICFEATURE$ and male infertility (Deafness-Infertility Syndrome; @DISEASE$) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3.	has_symptom
+e5a078f0a4b5cdb41664eec572d686b37427fc78	The haemodynamic and catecholamine responses to supine exercise, and the effect on standing blood pressure (BP), were studied in three groups with peripheral @PHENOTYPICFEATURE$; insulin-dependent diabetes mellitus (IDDM), familial amyloid polyneuropathy (FAP) and @DISEASE$ (PAF).	has_symptom
+e1e5a10749704d270ad2fdb049f4fe01b3793dca	Evidence accumulated over the next two decades that patients with orthostatic hypotension include those with @DISEASE$ (PAF), characterized by isolated peripheral @PHENOTYPICFEATURE$ and decreased norepinephrine synthesis; multiple system atrophy (MSA) with symptoms of a central Parkinson-like syndrome and normal resting plasma norepinephrine; and Parkinson's disease (PD), with lesions in postganglionic noradrenergic neurons and signs of autonomic dysfunction.	has_symptom
+f2f9730f58d7000c54c74880af65c7219f8e835f	Pseudophakic @DISEASE$ (PCME) is the most common complication of @PHENOTYPICFEATURE$ surgery, leading in some cases to a decrease in vision.	false
+745cb9677a9169cd7bb634c99dbbcdf2487e28f4	However, only few studies report such favorable results in @DISEASE$, which has a @PHENOTYPICFEATURE$ prognosis.	false
+18183bb44f6c1deac2a077bfc3e6703d1d895fc6	Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of @DISEASE$ with @PHENOTYPICFEATURE$, hypopigmentation, and megacolon disease in mice and humans.	has_symptom
+a8c9f976ed99754b2ecdd12679aba2b0ae42f276	Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of Waardenburg-Shah syndrome with congenital hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$ disease in mice and humans.	false
+898d4094f3f9a81f97d1074502c504721e4a6cac	Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of Waardenburg-Shah syndrome with @DISEASE$, @PHENOTYPICFEATURE$, and megacolon disease in mice and humans.	false
+b36f60f691b18941bd749daed1276652aeae3f90	Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of @DISEASE$ with congenital hearing loss, @PHENOTYPICFEATURE$, and megacolon disease in mice and humans.	false
+491e898d4f7dfcedc1985355fe80be6ffcd0578c	@DISEASE$ (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), @PHENOTYPICFEATURE$, and depigmentation of hairs, skin, and iris.	has_symptom
+ffbc7ee12127c858c316948fa25585016521dc48	Direct regulation of the Microphthalmia promoter by Sox10 links @DISEASE$ (WS4)-associated hypopigmentation and @PHENOTYPICFEATURE$ to WS2.	has_symptom
+8794b998941d3ddc77db8b86a3f8ac0b55349f69	Direct regulation of the Microphthalmia promoter by Sox10 links @DISEASE$ (WS4)-associated @PHENOTYPICFEATURE$ and deafness to WS2.	false
+1860472baa18fce87b3f573251ae143cf67fbeba	Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated @PHENOTYPICFEATURE$ and @DISEASE$ to WS2.	false
+17f85e4d73cb2a13b44b72aa3254527a206018e8	Direct regulation of the @DISEASE$ promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated @PHENOTYPICFEATURE$ and deafness to WS2.	false
+491e898d4f7dfcedc1985355fe80be6ffcd0578c	@DISEASE$ (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), @PHENOTYPICFEATURE$, and depigmentation of hairs, skin, and iris.	has_symptom
+2401e309f60331de5638ac08945049d8f282a5f9	In humans, mutations in this gene are associated with @DISEASE$, a disorder characterized by pigmentation defects, @PHENOTYPICFEATURE$ and megacolon.	has_symptom
+a5708aa203c2de078ea112e8e81f20df6c2faf1f	Shah-Waardenburg syndrome or @DISEASE$ (WS4) is a neurocristopathy characterized by the association of @PHENOTYPICFEATURE$, depigmentation and Hirschsprung disease.	has_symptom
+4473c66363d3e839858f689493ca97196e9717be	@DISEASE$ or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of @PHENOTYPICFEATURE$, depigmentation and Hirschsprung disease.	has_symptom
+667b7690ff40daded512791f8aa1e26b6d64e022	A deletion encompassing several SOX10 enhancers was recently identified in a patient presenting with @DISEASE$ (WS4), which is defined as a combination of Hirschsprung disease (HSCR, intestinal aganglionosis) and WS (@PHENOTYPICFEATURE$ and pigmentation defects).	has_symptom
+652cae1e098011d9e939963389c3103b7d61b02f	The type IV Waardenburg syndrome (WS4), also referred to as @DISEASE$ or Waardenburg-Hirschsprung disease, is characterised by the association of Waardenburg features (WS, depigmentation and @PHENOTYPICFEATURE$) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).	has_symptom
+b855eb56c4a2e1d7b93635d9d0d984952f84a4e4	The WS4 mouse is an animal model for human @DISEASE$ (WS4), showing pigmentation anomalies, @PHENOTYPICFEATURE$ and megacolon, which are caused by defects of neural crest-derived cells.	has_symptom
+a8036ee913aca5fc51c278859d7fc98bfc78dd13	The WS4 mouse is an animal model for human Waardenburg syndrome type 4 (WS4), showing @PHENOTYPICFEATURE$, @DISEASE$ and megacolon, which are caused by defects of neural crest-derived cells.	false
+1eb8363a01d623e612cabfa91cbf596380936268	The WS4 mouse is an animal model for human @DISEASE$ (WS4), showing @PHENOTYPICFEATURE$, deafness and megacolon, which are caused by defects of neural crest-derived cells.	false
+53061192a6c64d6484388dff354095825b7dbf24	Skeletal dysplasia, @PHENOTYPICFEATURE$, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	has_symptom
+7e30f67cc363852a9c0dbf999f3150374742b77e	Skeletal dysplasia, @DISEASE$, optic atrophy, hearing impairment, and @PHENOTYPICFEATURE$: nosology of dysosteosclerosis.	false
+19d4eb487d89eeff5a3dbd52b23ef37d0c00f599	Skeletal dysplasia, intracerebral calcifications, @PHENOTYPICFEATURE$, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+cfee394f7a62fb79c79530d9c51811042376249b	Skeletal dysplasia, @DISEASE$, optic atrophy, @PHENOTYPICFEATURE$, and mental retardation: nosology of dysosteosclerosis.	false
+b0e90ff8049f61926fc075c016598369a859cdb4	Skeletal dysplasia, @DISEASE$, @PHENOTYPICFEATURE$, hearing impairment, and mental retardation: nosology of dysosteosclerosis.	false
+a59e1c3340ebdc4abf0e2fbcb88d62e0d539d2d8	@PHENOTYPICFEATURE$, @DISEASE$, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.	false
+1d2de3f483d477ee36eaa32024879414830ec66e	Skeletal dysplasia, intracerebral calcifications, optic atrophy, @PHENOTYPICFEATURE$, and mental retardation: nosology of @DISEASE$.	false
+44c1d78ae0c8bea3cea2fadc3f8254ba9b506b3a	Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and @PHENOTYPICFEATURE$: nosology of @DISEASE$.	false
+7f78c2bf70083f74d7c368e16d5befec702d26b7	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+5c4c5e45495c656c40d9d7818cbefc78d1c8e70a	Five of these co-segregated with @PHENOTYPICFEATURE$ and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with @DISEASE$, sclerocornea, microphthalmia and coloboma.	has_symptom
+ba12dd0458b82391996e2ae44bc5c86f638a2317	Five of these co-segregated with cataracts and @PHENOTYPICFEATURE$, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and @DISEASE$.	false
+453049568012d0116b18759504c460c92b6825f7	Five of these co-segregated with cataracts and @PHENOTYPICFEATURE$, whereas the variant p.(Gly94Arg) was identified in an individual with @DISEASE$, sclerocornea, microphthalmia and coloboma.	false
+66c092da981f15888a4851f31f99ed2ea945d0ed	Five of these co-segregated with @DISEASE$ and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, @PHENOTYPICFEATURE$ and coloboma.	false
+6695285226dc6708c37889833b497d2e3d3ca97b	Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0a50249147bf175a0024ed9488b88749feb6eca0	Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with @DISEASE$, sclerocornea, @PHENOTYPICFEATURE$ and coloboma.	false
+de47b84939857b1bd406f4e5035a66e7cd2ce998	Five of these co-segregated with @DISEASE$ and @PHENOTYPICFEATURE$, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma.	false
+5650e693e698cb248d942d04480aaf2f84bd5e0d	A SMARCE1 mutation caused @DISEASE$ without typical facial coarseness and with significant digital/@PHENOTYPICFEATURE$.	has_symptom
+3a019c299a6f21435dc351704841bb7aac709c7b	This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the hypertrichosis or fifth @PHENOTYPICFEATURE$ associated with @DISEASE$.	has_symptom
+32eb5e0335c8ca37395c96edde1ec2d391f12fdd	This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the @PHENOTYPICFEATURE$ or fifth nail hypoplasia associated with @DISEASE$.	false
+1ea0fe6a43c0623a6f9248c701a41637ceaee940	This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the @PHENOTYPICFEATURE$ or fifth @DISEASE$ associated with Coffin-Siris syndrome.	false
+43241b1baf33be34436f994b949bfa8ca61ab664	SMARCA4 mutations caused @DISEASE$ without typical facial coarseness and with significant digital/@PHENOTYPICFEATURE$.	has_symptom
+ef982f8a6a9bef9917fd006ce46ed9b103c8b860	ARID1B mutations caused @DISEASE$ without typical facial coarseness and with mild digital/@PHENOTYPICFEATURE$, or caused syndromic ID.	has_symptom
+ae69cd6907120ac84d3f3046dd90e3f0629e78a4	@DISEASE$ (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	has_symptom
+4c3d0601ecaea938c1a56c48d0a35e0e10776b10	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	has_symptom
+797aa8c65e08adf36089babe3bfa614bf38206ca	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+e82dfe2532cce0b614105bb90d0f6c27231a8e2a	Coffin-Siris syndrome (@DISEASE$) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+606b61462e42556861b0e1de3840a1250e793e86	@DISEASE$ (CSS) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+68e85ccf409dfe0742ecd6a5ae379af757b2d104	Coffin-Siris syndrome (CSS) is characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, dysmorphic features, and @DISEASE$ of the fifth fingers and/or toes.	false
+6e2480eb4de4af034f0ba30df015761adfbcb1f7	@DISEASE$ (CSS) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes.	false
+aec8cde2ca295afb2ecd8d25a4ab174276ad2a6f	Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, dysmorphic features, and @DISEASE$ of the fifth fingers and/or toes.	false
+da0b545419abdb71fdc6a4a44822693c51b9c6b7	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation.	has_symptom
+b556b3a27ca0ff38afd1d2631540e80019ef6c34	Coffin-Siris syndrome is characterized by @DISEASE$ of the fingers and toes, eyebrow @PHENOTYPICFEATURE$, prominent lips and prenatal or postnatal growth retardation.	false
+219e3a4c5fd1734e9c1a75a280e312096f069fd3	@DISEASE$ is characterized by nail hypoplasia of the fingers and toes, eyebrow @PHENOTYPICFEATURE$, prominent lips and prenatal or postnatal growth retardation.	false
+626478125d20edf37fc975c0f60639ed5683c1b4	@DISEASE$ is an infrequent condition characterised by mental retardation, @PHENOTYPICFEATURE$ or absence with fifth digit involvement and feeding problems.	has_symptom
+9050ef064e019e1d9f09db6fdaf054008c5bf529	@DISEASE$ is an infrequent condition characterised by @PHENOTYPICFEATURE$, nail hypoplasia or absence with fifth digit involvement and feeding problems.	false
+905b0a8e986008858198e3c98e61b97e3df34a34	Coffin-Siris syndrome is an infrequent condition characterised by @PHENOTYPICFEATURE$, @DISEASE$ or absence with fifth digit involvement and feeding problems.	false
+0304e6d80cd720c4d199cad797ecb9cb6d7786c6	In younger girls there seems to be a striking phenotypic overlap with @DISEASE$, which is characterized by intellectual disability, sparse hair and @PHENOTYPICFEATURE$.	has_symptom
+fe0b04da643bb0f95e191842e1da04c2c9b501c5	In younger girls there seems to be a striking phenotypic overlap with Coffin-Siris syndrome, which is characterized by @PHENOTYPICFEATURE$, sparse hair and @DISEASE$.	false
+61f2618758a172eb92c9bfc21b33097285386c62	In younger girls there seems to be a striking phenotypic overlap with @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, sparse hair and hypoplastic nails.	false
+5a4d123e919fd6044c8bae081469d14302e4d10d	@DISEASE$ (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/@PHENOTYPICFEATURE$.	has_symptom
+0ea911646210cd38dd1612137b6e1fc2df2be2ab	Coffin-Siris syndrome (@DISEASE$) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/@PHENOTYPICFEATURE$.	has_symptom
+c05863ca0e817a5d56f56c9b4f7cc16ffa7a5479	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	has_symptom
+4242fa68ba2a5b0f562a8f09c4e9e3af285b2537	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and @PHENOTYPICFEATURE$ of the fifth fingers and/or toes.	has_symptom
+695beffd59ac7b0c7bf0c5bab657dde1c3070f66	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+5c6cebac4d40c81a80ee135e1ff196702f234ede	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+3a949bd400ea1c73b940c289161596195467e15f	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and @DISEASE$ of the fifth fingers and/or toes.	false
+5b82249c9528515a75e97b87c509b5ead00bc2ec	@DISEASE$ (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+43084b9886ba2863d680677a8425de45a55e10bf	Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, @PHENOTYPICFEATURE$, characteristic facial features and @DISEASE$ of the fifth fingers and/or toes.	false
+6a1102f693896ed6fd4a8ec02915f1820530df46	Coffin-Siris syndrome (@DISEASE$) is a congenital disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes.	false
+36b07c7f2133fd80ba9e6abf2e3c8d4ee0278195	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, @PHENOTYPICFEATURE$, bony abnormalities and umbilical hernia.	has_symptom
+d5730c9cd463a2bd84bc762eea14bddf1e4866cf	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, @DISEASE$, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+e39411c4a2dc635632552504fe0a7c7ee6c6d5f7	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, @PHENOTYPICFEATURE$, @DISEASE$, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+a3c783cffeaea3f5f00ac492453ab6e374aa7f18	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+1586a06f95f33218557e6c9c1d2eb75edea42079	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+7afc9942f117e8d4786c4960ceb49662a30fe498	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, hypogenitalism, bony abnormalities and umbilical hernia.	false
+98f4c61c38dee4ea2dea817c9f3e37b3327fd845	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, @DISEASE$, bony abnormalities and umbilical hernia.	false
+538d5738bb3dad6b4fe06e966b124043086baee2	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, @PHENOTYPICFEATURE$, congenital heart disease, cryptorchidism, @DISEASE$, bony abnormalities and umbilical hernia.	false
+de2af468943fc7ec0cc9ec01f31f0d2bc24f7c62	Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, @DISEASE$, hypogenitalism, bony abnormalities and umbilical hernia.	false
+84cf54c709df4fc096b5a0d9f8be5fb58eb0012e	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, obesity, and umbilical hernia.	has_symptom
+db8c6f315f84b01a85b0e361df5813d63462c79c	Acrocephalopolysyndactyly or Carpenter syndrome consists of @DISEASE$, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	false
+1a74046a1bd93f67fc2d4abe1042e3c9a6f6a0dd	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, @DISEASE$, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+cab1eaa459c490c2800be6fdef808b6979102356	Acrocephalopolysyndactyly or Carpenter syndrome consists of @DISEASE$, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+0f138937c547d1e353f2f61704277a0ffc3214da	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	false
+eba6e318c1438644d3182ab043beb4e68943fc01	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+5de9ac1bd11ecdac0c34a199e7e37a71790159f7	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, @DISEASE$, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia.	false
+d5fdff4612dbae744f8400abbbdef6f11e3b4da3	Acrocephalopolysyndactyly or @DISEASE$ consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+90291a483a0dd01ddeed468c05f285347247eec2	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, @DISEASE$, hypogenitalism, obesity, and umbilical hernia.	false
+637ba298c75e02fa154fa2db6c9d4a0dfdb477af	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue @PHENOTYPICFEATURE$, preaxial polydactyly, congenital heart disease, @DISEASE$, obesity, and umbilical hernia.	false
+d7bfb431418977948becb3a9dffa1ad9f19c819d	Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, @DISEASE$, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+2846caef792df303906a16307ad2d1fdc2625bc7	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @PHENOTYPICFEATURE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	has_symptom
+a675f71ff17fce80e5751959cea5cffb40794a43	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, @DISEASE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a12eb2f95744cffb6b2953bb8210aac5e8b9f46a	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+8889a83fae933949709236c678d6b728b3fe1115	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9a9c37c8b6ae070d98a64b55b3bb196cd7e212b4	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+85f0488237960709712e47d4536a31b13a3f736d	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, @DISEASE$, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9ce73745f9ede5a5ca5ddc9850b9f2a8a508fe38	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+841c7d93af4b33044c391243a4a8517a7769937f	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, @PHENOTYPICFEATURE$, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+a99640fa66514459000ee0bcc49aeb40deba8c54	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+9a569857a8accf89d9c4b4d3b6370a79fa3e0454	Clinical features of @DISEASE$ include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+b8d441bbd89fd68e663ddc4f7c5a320c5b7140ab	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, @DISEASE$, and @PHENOTYPICFEATURE$ (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+58eb22928b41df5777b3be5cec46737406b61f18	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, @DISEASE$, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+ac21f1c099398770a37433213ccb9286b77a4e45	Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue @PHENOTYPICFEATURE$, obesity, hypogenitalism, @DISEASE$, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106).	false
+19b4a2f9ee76becd64b80dcba0f63b2a3b4593f3	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	has_symptom
+fea7a10080cfad9fb1b80c9c35891397dc9dc88f	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+dac7489a843d0ca24db83f35affb5093efcfc6a5	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+adf8d1ac558ae39154cf82bbb0ee7c29f076ed31	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+a6cffcddf838bb176e660c6c6d21b45738706759	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+671de73fe4d52a308065bee1f351739a8c84ed19	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, @DISEASE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+da68ecc327f7465db1554b3ef3641bb63d8ef119	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+4726d63422cafa846d04bbf2cb395d31e11c3622	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, obesity, umbilical hernia and bony abnormalities.	false
+7660f124dcf78e263a9b358ebe6e2172fbd2541d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+0fa332ac3a238f848632ad1cfc83027039d1a38d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+d8b9d4e0cc146273a59f8a399ffeb0ed38baf3b4	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+3ab26b2e3d68f3a7f504cba34363659a1e4f4c76	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+9f5efe846101119c3c92fbb510a6c0a2ce8bb59b	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5836464f1d0713adc19bfa8416b13cddabd35534	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @DISEASE$, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+974549c7f14fbc651c6c39008a2a966ef34bc73c	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, @PHENOTYPICFEATURE$, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5c764caefaf508a2f457594bba319c22bd8be6d9	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b0be8f5df9cb498a5b6b7783c6d2fc9b18edd364	@DISEASE$ (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+9b88a08f8ae2b6e5b8b2d53935168014c6bc054d	Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, @DISEASE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+56b778c36454e5284ed52600ccfcc74a753cedc7	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	has_symptom
+811b5705d079c9ae86a1fb736fbb4e7000c60255	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+307995cf6f3e16aaaf4e88001ce1d1ab0369fc65	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @DISEASE$, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+f157aff112c567dacb8cfa6e2751f6832a2fb048	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+875adce164987e0e289db1f6cbdf33df27927052	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+de4aeda4df69279b16e6c589ad52c32a278cf164	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+8c512e507d6a4e00ce72292413844bb83ec63fa5	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+7775477cb2c8ae41452731567547ad9eef2bc5f7	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+ee75d63d04dca20d6bd15c3f3e9742724e8351be	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @DISEASE$, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+d37cc1211b5815e4e68b03ccbb8416a678c1c714	@DISEASE$ consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+96b5b76e569141408a029b2917723ce02ecf2b9c	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+767c7ed108aef60e46952f59ad5e72a80369e87c	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, @DISEASE$, cryptorchidism, obesity, umbilical hernia and mental retardation.	false
+6e2ac98e6aeffe7f499c1794a32cdbc17169a8b9	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, @DISEASE$, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and mental retardation.	false
+2d341d0597bd63e830832005c85de6626f72b54e	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, @DISEASE$, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+0c8ca1f8e04bb5b39c4025995dc2c013b85d8527	@DISEASE$ consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and @PHENOTYPICFEATURE$.	false
+4e1ad9db846b814fefc446b9e97a40e40fc6ce71	Carpenter syndrome consists of acrocephaly, soft tissue @PHENOTYPICFEATURE$, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+6b3a32a5800738c48f0c65339d87d3daa46402e7	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, @PHENOTYPICFEATURE$, mental retardation and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with @DISEASE$.	has_symptom
+d907b312fc462e6835e2f972759da4c2cafe2e9a	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, @PHENOTYPICFEATURE$ and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with @DISEASE$.	false
+dca916ae537b56f4f375b1345b00534ce4d4cd15	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, mental retardation and striking phenotypic features (e.g., brachyturricephaly, @PHENOTYPICFEATURE$, midface hypoplasia and low-set ears) consistent with @DISEASE$.	false
+2ed18f370f08748665a65ef6da1267232172c184	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, @DISEASE$, @PHENOTYPICFEATURE$ and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with Gomez-Lopez-Hernandez syndrome.	false
+48b79ebb87ccb20aea22dbad658d27c693896b10	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, @DISEASE$, mental retardation and striking phenotypic features (e.g., brachyturricephaly, @PHENOTYPICFEATURE$, midface hypoplasia and low-set ears) consistent with Gomez-Lopez-Hernandez syndrome.	false
+074df8487823ea55e1981e384a4c19b14a5f7529	How to diagnose and manage other causes of dizziness, including @DISEASE$, acute vestibular syndrome, migraine-associated @PHENOTYPICFEATURE$, and motion sickness, is also covered in this article.	has_symptom
+1575c8783361ca2e3b104269135f841408001b80	The symptoms emerging in the course of disease are hearing loss, tinnitus, and @PHENOTYPICFEATURE$, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as @DISEASE$.	has_symptom
+b1f8d2f8a8649204e552d75fb202bb31cb07e5b6	The symptoms emerging in the course of disease are @DISEASE$, @PHENOTYPICFEATURE$, and vertigo, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as Meniere disease.	false
+2bb88ec6c7bd315443ea6c2c3d5f294eff3ab5d6	The symptoms emerging in the course of disease are hearing loss, @PHENOTYPICFEATURE$, and vertigo, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as @DISEASE$.	false
+b246fabeff965707cb27bfc42bd2a15f945d42ba	The symptoms emerging in the course of disease are hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$, thus there were described patients with intralabyrinthine schwannomas diagnosed and treated as Meniere disease.	false
+727684cffefe7a300c2ce4f0b55671d4e06b9ab2	For the diagnosis of peripheral @PHENOTYPICFEATURE$, benign paroxysmal positional vertigo, labyrinthitis, @DISEASE$, perilymphatic fistula, local trauma, toxic labyrinthitis, acute otitis media and chronic middle ear effusion,the role of imaging techniques is controversial.	has_symptom
+8584d8d17ed12e7bd9e0fce4482db52224729873	For the diagnosis of peripheral vertigo, benign paroxysmal positional @PHENOTYPICFEATURE$, labyrinthitis, @DISEASE$, perilymphatic fistula, local trauma, toxic labyrinthitis, acute otitis media and chronic middle ear effusion,the role of imaging techniques is controversial.	has_symptom
+b16cf5cd97176e5751994295c03b60ef4f78e142	ELST often present with sensorineural hearing loss, tinnitus, and @PHENOTYPICFEATURE$, which may mimic @DISEASE$.	has_symptom
+1712904c56e43b3aa659de43fd2d7b9ebc93fd3a	ELST often present with @PHENOTYPICFEATURE$, tinnitus, and vertigo, which may mimic @DISEASE$.	false
+a08c9c7832370da6eeefc95600c7f2bc33da2a6b	ELST often present with @PHENOTYPICFEATURE$, tinnitus, and @DISEASE$, which may mimic Meniere disease.	false
+ef3de8452d5285207f7f14e1d69da5290d077c49	ELST often present with sensorineural hearing loss, @PHENOTYPICFEATURE$, and @DISEASE$, which may mimic Meniere disease.	false
+350ef110ea332f6905f381c41cfb6b3e074fa928	ELST often present with sensorineural hearing loss, @PHENOTYPICFEATURE$, and vertigo, which may mimic @DISEASE$.	false
+c74ee18aa660df2ad4f61d7c509bf1d4a953aa69	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with hearing loss, tinnitus and @PHENOTYPICFEATURE$, or with early diagnosis of @DISEASE$.	has_symptom
+1d036d609ff5632c158bd7a79ee887ba14f0b90d	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with hearing loss, @PHENOTYPICFEATURE$ and @DISEASE$, or with early diagnosis of Meniere disease.	false
+52c87e2baf6a8202d827017ccdbfadfb6c22ded4	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with hearing loss, @PHENOTYPICFEATURE$ and vertigo, or with early diagnosis of @DISEASE$.	false
+c5ea64495311229f91a8c5f937ff4dc18dd04980	Elaborate radiologic examination including MRI with contrast is essential in case of atypical course of disease with @DISEASE$, @PHENOTYPICFEATURE$ and vertigo, or with early diagnosis of Meniere disease.	false
+8c298487e12807b5d37aab262adf86e6338d7992	The main causes of vertigo are benign paroxysmal positional @PHENOTYPICFEATURE$, @DISEASE$, vestibular neuritis, and labyrinthitis.	has_symptom
+684d7b4d94550338d4c15216c1cd82ff95948321	@DISEASE$ includes symptoms of fluctuating hearing loss, tinnitus, and subjective ear fullness accompanied by episodic @PHENOTYPICFEATURE$.	has_symptom
+cb0bf2650803c302c3ca01fe3ea267e92e2c5353	Meniere disease includes symptoms of fluctuating hearing loss, @PHENOTYPICFEATURE$, and subjective ear fullness accompanied by episodic @DISEASE$.	false
+7be99242543260e7c55b1e2459680c7b90eff7df	Meniere disease includes symptoms of fluctuating @DISEASE$, @PHENOTYPICFEATURE$, and subjective ear fullness accompanied by episodic vertigo.	false
+27902b7dd714e13a29229c41c60fa983b96154c1	@DISEASE$ includes symptoms of fluctuating hearing loss, @PHENOTYPICFEATURE$, and subjective ear fullness accompanied by episodic vertigo.	false
+9d73a92653708d3e81df1c814fc89a8e62c132fb	Four clinical vignettes of acute vertigo (posterior canal benign paroxysmal positional @PHENOTYPICFEATURE$, vestibular neuritis, @DISEASE$, and nonspecific vertigo) were used.	has_symptom
+87469c6bf9c777f59aea60195aa7fe7f6dc90697	Four clinical vignettes of acute vertigo (posterior canal benign paroxysmal positional vertigo, vestibular neuritis, @DISEASE$, and nonspecific @PHENOTYPICFEATURE$) were used.	has_symptom
+fffa078a539150b5312b64c934f5cf551b603c77	The symptoms include aural fullness, fluctuating hearing, and/or episodes of @PHENOTYPICFEATURE$ similar to those observed in @DISEASE$ and may occur ipsilateral or contralateral to the previously deafened ear.	has_symptom
+1c887d159c38f119aefe0ef2a7801033c85e7f43	In patients with @DISEASE$, a strong positive correlation was found between the severity of @PHENOTYPICFEATURE$ and the EPI and CMI scores.	has_symptom
+e2807441feb82913557809aee20a9a2594805618	This case report describes @DISEASE$ in a young boy suffering from congenital microcephaly, developmental delay, @PHENOTYPICFEATURE$ and various dysmorphic features in whom nephrotic syndrome became apparent at 5 years of age.	has_symptom
+63d2458a5f0353cfb3ccd7261210e429688106bf	@DISEASE$ (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and @PHENOTYPICFEATURE$, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia.	has_symptom
+9d558869ac7c2092d3161f8d2dad6df4102110e8	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by @PHENOTYPICFEATURE$ and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, @DISEASE$, end-stage renal disease (ESRD), and hiatal hernia.	false
+a78de404646c9d83f00ed6f3fac4275507b3b5a2	@DISEASE$ (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by @PHENOTYPICFEATURE$ and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia.	false
+5ffaa9edf44b5d8d2ebf80a2cd02ab9b417c9351	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by @PHENOTYPICFEATURE$ and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and @DISEASE$, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia.	false
+f714ccdda9a66afa34707798c191542bea561d31	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by @PHENOTYPICFEATURE$ and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as @DISEASE$, proteinuria, end-stage renal disease (ESRD), and hiatal hernia.	false
+29db4db28d4003236987112283246f0d0d60e21a	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by @PHENOTYPICFEATURE$ and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, @DISEASE$ (ESRD), and hiatal hernia.	false
+260e50fb788b8afa8a1dfeb7acfae28964efbb8a	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by @PHENOTYPICFEATURE$ and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (@DISEASE$), and hiatal hernia.	false
+730a06e9b9697daacaf79f04f039f329da306af3	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament tumor, fibrous tissue tumor hyperplasia, tendon membrane @PHENOTYPICFEATURE$ or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	has_symptom
+d29c3f4055d036f7745dc1cf773d6c244931ec9b	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament tumor, fibrous tissue tumor hyperplasia, tendon membrane fibroma or soft tissue ligament @PHENOTYPICFEATURE$, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	has_symptom
+e9707a499680a2fcdd7ee28a73badc431080f812	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament @PHENOTYPICFEATURE$, fibrous tissue tumor hyperplasia, tendon membrane @DISEASE$ or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+9cf73ab472ed0d3cd84641a669de58c3f3de258f	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue @PHENOTYPICFEATURE$ hyperplasia, tendon membrane @DISEASE$ or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+d175a957776875bcc04d5d866b0790e94f9173b4	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament tumor, fibrous tissue @PHENOTYPICFEATURE$ hyperplasia, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+b18beb81e8e8a7964af28d27ffc98438729efd50	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament @PHENOTYPICFEATURE$, fibrous tissue tumor @DISEASE$, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+d5de7fb43daf27e97ea011167ed22c197f43d264	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue @PHENOTYPICFEATURE$ @DISEASE$, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+eca0effee4e2bdd87cd5c63776a1f4e5f3b4ec64	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament @PHENOTYPICFEATURE$, fibrous tissue tumor hyperplasia, tendon membrane fibroma or soft tissue ligament @DISEASE$, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+fa2ed3f039c88ad254ba56531ea43010e913f465	Aggressive fibromatosis (AF) of abdominal wall is also called @DISEASE$, ligament @PHENOTYPICFEATURE$, fibrous tissue tumor hyperplasia, tendon membrane fibroma or soft tissue ligament fibroma, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+43514989cdd76fc8a368046b5a048362e4b34b79	Aggressive fibromatosis (AF) of abdominal wall is also called desmoid tumor, ligament tumor, fibrous tissue @PHENOTYPICFEATURE$ hyperplasia, tendon membrane fibroma or soft tissue ligament @DISEASE$, etc. Aggressive fibromatosis of abdominal wall was first described by MacFarlane in 1832, and it was named for the first time by Muller according to its general appearance and texture in 1838.	false
+28138490ae901054178b358dfaa93cdf55f9d5a4	@DISEASE$ type A (MADA) is characterized by growth retardation, postnatal onset of craniofacial anomalies with @PHENOTYPICFEATURE$, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy.	has_symptom
+ce3cbe5cbc70144ad9f6e78a362a49f79b6c7134	Mandibuloacral dysplasia type A (MADA) is characterized by @PHENOTYPICFEATURE$, postnatal onset of craniofacial anomalies with @DISEASE$, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy.	false
+18a2bb868ae2b18750f9c7f905a15db2eda85bc8	Mandibuloacral dysplasia type A (MADA) is characterized by @PHENOTYPICFEATURE$, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, @DISEASE$, and lipodystrophy.	false
+167ab24ceac2890d25525ba9d68dceaaab0d6cb1	Mandibuloacral dysplasia type A (MADA) is characterized by @PHENOTYPICFEATURE$, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral @DISEASE$, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy.	false
+b978c486bd39a27e2ad94ea8b998fa12dc0a79f7	@DISEASE$ type A (MADA) is characterized by @PHENOTYPICFEATURE$, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy.	false
+1e7437f97bb8629500d7895a5bdba9d762fb7748	@DISEASE$ type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with @PHENOTYPICFEATURE$, lipodystrophy and mottled cutaneous pigmentation.	has_symptom
+8ff752da802efed93beff6d61529fe8bacd18e82	@DISEASE$ type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, @PHENOTYPICFEATURE$ with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation.	false
+b9a2b75c28d606450358527ebd477bd1deb7f61d	Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, @PHENOTYPICFEATURE$ with progressive @DISEASE$ of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation.	false
+bbb7e59f12300cecf88bcfcb17f6d89efb783d06	Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with @DISEASE$, lipodystrophy and mottled cutaneous pigmentation.	false
+403fb04bdbb99b1c3492e659626ac7f55bd9158f	@DISEASE$ type A (MADA) is a rare autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation.	false
+a8cb5da5f8c51f3178c3db6511a99b855d8b37f9	Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, @PHENOTYPICFEATURE$ with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with @DISEASE$, lipodystrophy and mottled cutaneous pigmentation.	false
+d5ce7dc2f39f9cfd0090480bdab2b0501891b819	Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, skeletal abnormality with progressive @DISEASE$ of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation.	false
+ea9fbc197f9460cdbba400234bc8cd860be16ca1	On the basis of additional findings (@PHENOTYPICFEATURE$, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as @DISEASE$, a rare autosomal recessive disease.	has_symptom
+0e61f594617d50317ea6b92ceca71278d0a765db	Mandibuloacral dysplasia (@DISEASE$) is a rare autosomal recessive progeroid syndrome, characterized by @PHENOTYPICFEATURE$, acroosteolysis affecting distal phalanges and clavicles, delayed closure of the cranial sutures, atrophic skin, and lipodystrophy.	has_symptom
+c2dd7cb9f394172ebb1864214562c0648b4fb8b9	@DISEASE$ (MAD) is a rare autosomal recessive progeroid syndrome, characterized by @PHENOTYPICFEATURE$, acroosteolysis affecting distal phalanges and clavicles, delayed closure of the cranial sutures, atrophic skin, and lipodystrophy.	has_symptom
+9a01ddb30d9ce59a9f633abc0c12f5c6a6d931b2	This case demonstrates that @DISEASE$ should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and @PHENOTYPICFEATURE$.	has_symptom
+cd14ffed3f167a57ad94d9ff3355201c60ad631b	New syndrome manifested by @PHENOTYPICFEATURE$, acroosteolysis, stiff joints and cutaneous atrophy (@DISEASE$) in two unrelated boys.	has_symptom
+75a3c8cdaed0bc3459d32e2c70ac354542b263e3	We conclude that in patients with @DISEASE$ due to ZMPSTE24 mutations, the onset of disease manifestations such as thin skin and @PHENOTYPICFEATURE$ occurs as early as 5 months of age.	has_symptom
+8e9944003e0a1cbcdfad3b85139f439922089528	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, delayed cranial suture closure, dysplastic clavicles, abbreviated, club-shaped terminal phalanges, acroosteolysis, atrophy of the skin over the hands and feet, and poikilodermatous skin changes.	has_symptom
+e9e102642bd6c1d3a0ed547ef0ea00467af2e019	Mandibulo-acral dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature.	has_symptom
+b7926b223e2f927bd026d3c09c88b9a9b9552d4f	Mandibulo-acral dysplasia (MAD) is a rare condition characterized by @DISEASE$, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and @PHENOTYPICFEATURE$.	false
+9065cb06176fb3159605f0ea7ff50b6b09ab9ec5	Mandibulo-acral dysplasia (@DISEASE$) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and @PHENOTYPICFEATURE$.	false
+102ad7648281b80782a6d94a5e3ae2e3a429552e	These patients have similar features to @DISEASE$ patients such as @PHENOTYPICFEATURE$, beaked nose, stiff joints, and sclerodermatous skin.	has_symptom
+852e39f3cfb4d59b6ab89a9e8a1e403947b3f48e	Association of CYPOR with ABS discloses new facts about this disease and recent research shows that patients with ABS-like @PHENOTYPICFEATURE$, but with mutations in the POR gene and disordered steroidogenesis, represent a new disorder called @DISEASE$.	has_symptom
+d993c9b009ea44fdd81bbcc3afca84db871fa1b5	Healing of the psoriatic nails usually occurs when systemic therapy is initiated to treat severe skin @PHENOTYPICFEATURE$ or joint involvement, but sometimes systemic therapy is essential for severe nail @DISEASE$, although Psoriasis Area and Severity Index (PASI) score is low or none of the joints are affected.	has_symptom
+82d4341edee1a1723a55ffd07e3a15062c0b6fbb	We described a 35-year-old male with @DISEASE$ who presented with rectal bleeding and @PHENOTYPICFEATURE$.	has_symptom
+36b90f14cdc46af260e8d151460a29a57e3a91d4	We report the case of a 20-year-old woman diagnosed with @DISEASE$, as she suffered from 4-day nausea and vomiting with acute @PHENOTYPICFEATURE$, and clinically manifested acute pancreatitis, splenomegaly and duodenojejunal intussusceptions secondary to a huge proximal jejunal polyp (10 cm ? 2 cm).	has_symptom
+343a7a976c60321879795581a47d855865eb155c	Patients of @DISEASE$ present with @PHENOTYPICFEATURE$, blood in stools, and occasionally melena because of polyps, along with classical mucocutaneous pigmentation.	has_symptom
+c47e4f1506b221ed54f3354693ecd9b026ddd0ec	A clear dependency of indication and diagnostic yield could be documented, ranging widely from a diagnostic yield of 16 % in patients with @PHENOTYPICFEATURE$ and 82 % in patients with @DISEASE$.	has_symptom
+5fbaaabc5e51bac6b82d78a11c9afd928e059bf3	We present a case of a 15-year-old girl presenting with @PHENOTYPICFEATURE$, who was subsequently diagnosed with double intussusception secondary to her previously unrecognised @DISEASE$ (PJS).	has_symptom
+8387c96b74aa2e5944285e73a6a043e525fbdcea	We present a case of a 15-year-old girl presenting with @PHENOTYPICFEATURE$, who was subsequently diagnosed with double intussusception secondary to her previously unrecognised Peutz-Jeghers syndrome (@DISEASE$).	has_symptom
+8dba05dab48ca2720b608cd68f9b990d4f90de69	The @DISEASE$ is a rare dominant autosomic, entity characterized by hyperpigmented lesions on the lips, hands and feet; with presence of gastrointestinal polyps producing acute or chronic anemia, intestinal obstruction, and/or @PHENOTYPICFEATURE$.	has_symptom
+805b9b29bddb2a64193d3474a317f42b6e69f1c0	The @DISEASE$ is a rare dominant autosomic, entity characterized by @PHENOTYPICFEATURE$ on the lips, hands and feet; with presence of gastrointestinal polyps producing acute or chronic anemia, intestinal obstruction, and/or abdominal pain.	false
+0f7f64b8d44f77da55771353105e0595f658a07e	The Peutz-Jeghers syndrome is a rare dominant autosomic, entity characterized by @PHENOTYPICFEATURE$ on the lips, hands and feet; with presence of @DISEASE$ producing acute or chronic anemia, intestinal obstruction, and/or abdominal pain.	false
+ffa36a9a340950024e2310f1a2aea6aafc28827a	The Peutz-Jeghers syndrome is a rare dominant autosomic, entity characterized by @PHENOTYPICFEATURE$ on the lips, hands and feet; with presence of gastrointestinal polyps producing acute or chronic anemia, intestinal obstruction, and/or @DISEASE$.	false
+65ea3dd762164504fca322e4fa5f7f841795df95	The Peutz-Jeghers syndrome is a rare dominant autosomic, entity characterized by @PHENOTYPICFEATURE$ on the lips, hands and feet; with presence of gastrointestinal polyps producing acute or chronic @DISEASE$, intestinal obstruction, and/or abdominal pain.	false
+5e37590d5f3488f3c3794ac85ec60b4f99540e21	Most of the off-label use had evidence support, such as multiple myeloma and @DISEASE$, while some cases did not, such as epilepsy and sudden @PHENOTYPICFEATURE$.	has_symptom
+7c32dda80c0c7e385bf4c7582b9afcf2429005f7	[Bilateral perceptive @PHENOTYPICFEATURE$ in a child with @DISEASE$].	has_symptom
+16ebe3d9c12ee14b7c357b739513f8e5595f7489	Systemic conditions significantly associated with pediatric ptosis include @DISEASE$, congenital anomalies, @PHENOTYPICFEATURE$, mental retardation, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	has_symptom
+27ca146eb7dde01f80a304b572ad7ab94cad0c61	Systemic conditions significantly associated with pediatric ptosis include myasthenia gravis, congenital anomalies, deafness, @PHENOTYPICFEATURE$, @DISEASE$, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+f96cc50b4b17ab0931baeaaba74ea5c389ceda81	Systemic conditions significantly associated with pediatric ptosis include @DISEASE$, congenital anomalies, deafness, @PHENOTYPICFEATURE$, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+7fecb9215a75ecc42a20c77ed34d6d2e51a9088b	Systemic conditions significantly associated with pediatric @PHENOTYPICFEATURE$ include myasthenia gravis, congenital anomalies, deafness, mental retardation, @DISEASE$, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+234ec0be95a71aed460cd7ced57d1c82c7a0306f	Systemic conditions significantly associated with pediatric @PHENOTYPICFEATURE$ include myasthenia gravis, @DISEASE$, deafness, mental retardation, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+fd8955cd23ce3a05d5d361ee31b8e59d4a821f60	Systemic conditions significantly associated with pediatric @PHENOTYPICFEATURE$ include @DISEASE$, congenital anomalies, deafness, mental retardation, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+e5d9779e34326e7da27712860d8e195f12fa29ff	Systemic conditions significantly associated with pediatric ptosis include myasthenia gravis, @DISEASE$, deafness, @PHENOTYPICFEATURE$, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+7067b4d865f364f12d6d2b25c34388dc614cab98	Systemic conditions significantly associated with pediatric @PHENOTYPICFEATURE$ include myasthenia gravis, congenital anomalies, deafness, mental retardation, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and @DISEASE$.	false
+0b4f7948a0b9ff2764c270a41dbfc051ab6c5766	Systemic conditions significantly associated with pediatric @PHENOTYPICFEATURE$ include myasthenia gravis, congenital anomalies, deafness, mental retardation, muscular dystrophy, @DISEASE$, epilepsy, schizophrenia, and malignancy.	false
+46f9e7197af91aec57a9eaa4c04c8c72463336d2	Systemic conditions significantly associated with pediatric ptosis include myasthenia gravis, congenital anomalies, deafness, @PHENOTYPICFEATURE$, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and @DISEASE$.	false
+bcb52238f5a8442c9ad49702efd4bdd2d580c046	Systemic conditions significantly associated with pediatric @PHENOTYPICFEATURE$ include myasthenia gravis, congenital anomalies, @DISEASE$, mental retardation, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+9de649534a1c52d7c9f94a8034d06def262641cc	Systemic conditions significantly associated with pediatric ptosis include myasthenia gravis, congenital anomalies, @DISEASE$, @PHENOTYPICFEATURE$, muscular dystrophy, neurological diseases, epilepsy, schizophrenia, and malignancy.	false
+a114ddffbbd6557fd9ce01f371769d93e35d6066	Systemic conditions significantly associated with pediatric ptosis include myasthenia gravis, congenital anomalies, deafness, @PHENOTYPICFEATURE$, muscular dystrophy, @DISEASE$, epilepsy, schizophrenia, and malignancy.	false
+816d00bb123794cc4112ea6bc761b1829563c1ff	A case of nonfatal @DISEASE$ was complicated by rhabdomyolysis, myoglobinuria, and acute nonoliguric @PHENOTYPICFEATURE$.	has_symptom
+319aed259254f6315aee2be105a4137baefdce59	In literature, @PHENOTYPICFEATURE$ is reported to occur in 15 percent of @DISEASE$ and this event induce a mortality over 50% of these cases.	has_symptom
+a253480af78a354747cd1b4618097a9548fd451a	@DISEASE$ with rhabdomyolysis and acute reversible myoglobinuric @PHENOTYPICFEATURE$.	has_symptom
+02e1ed01c08ea621035e0d81c9f5c0f9e21650c0	This case provides additional evidence that rhabdomyolysis with subsequent @PHENOTYPICFEATURE$ may be a serious complication of @DISEASE$.	has_symptom
+da5bfae166123b0f8c798e0dc0ee85939e00fc82	We conclude that acute renal failure may accompany severe @DISEASE$, and the development of the @PHENOTYPICFEATURE$ is not related to hemodynamic factors, while nephrotoxic antibiotics may be a contributing factor.	has_symptom
+c7b45505cf86000e5b23aa9831f047e4c7fe5ef7	@DISEASE$ associated with rash and @PHENOTYPICFEATURE$.	has_symptom
+b1bdaa5cd9a638aee57e134c96a4ba2a2b15221c	We report two consecutive cases of proven @DISEASE$ that were unusual in that a macular rash and profound @PHENOTYPICFEATURE$ requiring hemodialysis were noted.	has_symptom
+3b3f94f86a95fc3230e3688d89df22620b179db2	A rapidly progressive, crescentic glomerulonephritis with acute oliguric @PHENOTYPICFEATURE$ occurred simultaneously with @DISEASE$ (LD) in a 52-year-old man.	has_symptom
+abf816a730aa13b7575c7f846125fdf74200cd29	Our findings suggest that, in patients with @DISEASE$ with @PHENOTYPICFEATURE$, post-infection immunocomplex glomerulonephritis should be considered and steroid therapy may be an effective modality to treat the renal complication.	has_symptom
+66c5921051d98a229a4495db2102b77b51258207	Since the first published case in 1980, there are a further 22 published case reports on the direct correlation between rhabdomyolysis, @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+36b31213c85ed70b0ba9039daa0637fed22566d9	Between 1981 and 1991, 3 patients (13-year-old boy with @DISEASE$ [HE], 13-year-old boy with thalassemia intermedia [TI], and 18-year-old girl with idiopathic thrombocytopenic purpura [ITP]) presented with @PHENOTYPICFEATURE$, nausea, with or without fever, at 4, 11, and 13 days postsplenectomy, respectively.	has_symptom
+1e9dff0b7c461f207f2a8d7d6b833088fbf6aeae	Strikingly, both presented with variable @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c8c73b35e58d29f42fe3e2467e006db44ddf9723	Twenty-four male WR athletes (22 with tetraplegia, 1 with a spastic cerebral palsy, and 1 with congenital @DISEASE$ and @PHENOTYPICFEATURE$) were matched by lesion level, completeness of injury, and rugby classification prior to being randomly assigned to 1 of 3 groups: (1) CPTR (n=8), (2) CFR (n=8), or (3) controls (CON, n=8).	has_symptom
+8429c91212cc68ce8721be6af633ea5f9d5d94f1	Twenty-four male WR athletes (22 with tetraplegia, 1 with a @PHENOTYPICFEATURE$ cerebral palsy, and 1 with congenital upper and @DISEASE$) were matched by lesion level, completeness of injury, and rugby classification prior to being randomly assigned to 1 of 3 groups: (1) CPTR (n=8), (2) CFR (n=8), or (3) controls (CON, n=8).	false
+2cf4831d256c89a97262deef40b243e13de99725	Twenty-four male WR athletes (22 with tetraplegia, 1 with a @PHENOTYPICFEATURE$ cerebral palsy, and 1 with congenital @DISEASE$ and lower limb deformities) were matched by lesion level, completeness of injury, and rugby classification prior to being randomly assigned to 1 of 3 groups: (1) CPTR (n=8), (2) CFR (n=8), or (3) controls (CON, n=8).	false
+468e27b4e4cfeeb31752adb78f32fcf3f431a220	We describe an infant with a unique combination of a severe @DISEASE$ and a very @PHENOTYPICFEATURE$, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies.	has_symptom
+868aebc12e75df7258f85163edccfcc2b0ebac3b	@DISEASE$ with acanthosis nigricans is a rare form of Crouzon syndrome in which craniosynostosis and @PHENOTYPICFEATURE$ are associated with acanthosis nigricans.	has_symptom
+357a1d5ddac3507c233aebde596c3f99ec5d5e14	Crouzon syndrome with acanthosis nigricans is a rare form of @DISEASE$ in which craniosynostosis and @PHENOTYPICFEATURE$ are associated with acanthosis nigricans.	has_symptom
+203b3ddc3e2e3dd6103f197641345143f066bfe8	Eighty-one breath hydrogen tests were performed in 72 children who were investigated either because of chronic diarrhoea or recurrent @PHENOTYPICFEATURE$, or because they were relatives of patients with @DISEASE$.	has_symptom
+d336b622fabb3c5e43b533670b10c20cfd79b2a3	Poor starch digestion in children with @DISEASE$ and recurrent @PHENOTYPICFEATURE$.	has_symptom
+f5cd687b01716ae80074e1f76ce3fbf1df1f9282	Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including @PHENOTYPICFEATURE$, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing bilateral occipital, cortical calcifications characteristic of @DISEASE$.	has_symptom
+67154a66b996a31fe09c88994d496d822d9d3eec	Here we describe a one-year-old boy with @DISEASE$ presenting with the typical features including @PHENOTYPICFEATURE$, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing bilateral occipital, cortical calcifications characteristic of hereditary folate malabsorption.	has_symptom
+22aca28af851fc62bb41f09b87af179002a8967d	Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including failure to thrive, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and @DISEASE$, as well as a magnetic resonance imaging of the brain showing @PHENOTYPICFEATURE$ occipital, cortical calcifications characteristic of hereditary folate malabsorption.	false
+313f89e272dc49a400cc983bb8f7fb9d0e225430	Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including @DISEASE$, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing @PHENOTYPICFEATURE$ occipital, cortical calcifications characteristic of hereditary folate malabsorption.	false
+52ce5dffade32b43a992ff454e50160fa43e7c9a	Here we describe a one-year-old boy with @DISEASE$ presenting with the typical features including failure to thrive, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing @PHENOTYPICFEATURE$ occipital, cortical calcifications characteristic of hereditary folate malabsorption.	false
+8cf8463a05fbcf80410a75472d8b647976c91928	Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including failure to thrive, aphthous stomatitis, @DISEASE$ along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing @PHENOTYPICFEATURE$ occipital, cortical calcifications characteristic of hereditary folate malabsorption.	false
+6ad102ee0a437aaec28f1d6ad3e2ad47aeb887b7	Here we describe a one-year-old boy with hereditary folate malabsorption presenting with the typical features including failure to thrive, aphthous stomatitis, macrocytic anemia along with severe developmental impairment and epilepsy, as well as a magnetic resonance imaging of the brain showing @PHENOTYPICFEATURE$ occipital, cortical calcifications characteristic of @DISEASE$.	false
+b531b3a38adb02b7061440bd7e5f24893fee7658	We studied a family in which three siblings had an identical clinical feature indistinguishable from @DISEASE$ (ALS), consisting of progressive generalized @PHENOTYPICFEATURE$ with hyporeflexia and normal sensations beginning in the fourth decade.	has_symptom
+40a7ee2c79607b9752f2a3f06933012df252b40a	Escobar syndrome (ES) or @DISEASE$ (MIM#265000) is an infrequent condition characterized by @PHENOTYPICFEATURE$, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies.	has_symptom
+a18827be34931c21d2db38f5a4f101c5b1211711	Intrathecal 2-hydoxypropyl-?-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of @PHENOTYPICFEATURE$ in the mouse and cat models of @DISEASE$, a clinically variable progressive and ultimately fatal neurodegenerative storage disorder characterized by endolysosomal accumulation of unesterified cholesterol.	has_symptom
+7385b1b1d7799b2610aaa8aab4ac7ca86cc31b7b	PACAP and associated receptors are expressed in the LUT and exhibit changes in expression, distribution, and function in preclinical animal models of @DISEASE$ (BPS)/interstitial cystitis (IC), a chronic, visceral @PHENOTYPICFEATURE$ syndrome characterized by pain, and LUT dysfunction.	has_symptom
+e1dbb1c762c8a0aa91128be52475b41fc913e486	@DISEASE$ (IC) is a visceral @PHENOTYPICFEATURE$ syndrome with a profound impact on quality of life (QOL).	has_symptom
+c85c44ce20839009e55b8800959069f192696a7e	Frizzled 8-associated Antiproliferative Factor (APF) is a sialoglycopeptide urinary biomarker of interstitial cystitis/painful bladder syndrome (@DISEASE$), a chronic condition of unknown etiology with variable symptoms that generally include pelvic and/or perineal @PHENOTYPICFEATURE$, urinary frequency, and urgency.	has_symptom
+170bc12b123501a1bd46fc9cd501874ada906bd5	Frizzled 8-associated Antiproliferative Factor (APF) is a sialoglycopeptide urinary biomarker of @DISEASE$ (IC/PBS), a chronic condition of unknown etiology with variable symptoms that generally include pelvic and/or perineal @PHENOTYPICFEATURE$, urinary frequency, and urgency.	has_symptom
+241bea29530b00823ad77cc922a742736234045b	Hypersensitivity to visceral stimuli in @DISEASE$ may result from enhanced responsiveness of affective circuits (including the amygdala complex) and associated central @PHENOTYPICFEATURE$ amplification.	has_symptom
+9110041b91ebd706fc499c6bee87144007e87b99	Various forms of pelvic pain are frequently associated: painful bladder syndrome (@DISEASE$), irritable bowel syndrome, endometriosis @PHENOTYPICFEATURE$, vulvodynia, chronic pelvic pain syndrome (chronic prostatitis).	has_symptom
+39122e3defd5d894350052fa8752cdf3cc81ed01	Various forms of pelvic pain are frequently associated: @DISEASE$ (interstitial cystitis), irritable bowel syndrome, endometriosis @PHENOTYPICFEATURE$, vulvodynia, chronic pelvic pain syndrome (chronic prostatitis).	has_symptom
+c9a4d7c13ae24abb5fa55b5b0f68d4b8c0c7b6cb	The concept of @DISEASE$ as a visceral @PHENOTYPICFEATURE$ disorder is used as a model to base a targeted approach to the management of patients with IC/BPS.	has_symptom
+e2169349a0822a4dc2326dab2efb735be1834a04	The concept of IC/BPS as a visceral @PHENOTYPICFEATURE$ disorder is used as a model to base a targeted approach to the management of patients with @DISEASE$.	has_symptom
+35e8d4d548dbb58481e7dd56d37f050386165ab2	@DISEASE$ (IC) is a syndrome of pelvic and/or perineal @PHENOTYPICFEATURE$, urinary urgency, and frequency.	has_symptom
+a63ab992c733ce91d990ebddc3b05e19e28c3f81	@DISEASE$ (IC) is a chronic bladder disorder, with symptoms including pelvic and or perineal @PHENOTYPICFEATURE$, urinary frequency, and urgency.	has_symptom
+0db19b2384cbdaf714270830c0435edad65ab8bc	Most patients with @DISEASE$ are women with symptoms of suprapubic pelvic and/or genital area @PHENOTYPICFEATURE$, dyspareunia, urinary urgency and frequency, and nocturia.	has_symptom
+7a517562be0211c891fd744dcdd14653dfd9f930	Increased brain gray matter in the primary somatosensory cortex is associated with increased @PHENOTYPICFEATURE$ and mood disturbance in patients with @DISEASE$.	has_symptom
+cb005b1784d93caea30d844e1772ad027af67a5c	Nine studies examined people with @DISEASE$ MCI, 4 vascular @PHENOTYPICFEATURE$, and 1 all-cause dementia.	has_symptom
+ecb6c80d761df13b82fe342980ddce35a6b934ac	We report humans with @DISEASE$ who display intellectual disability, retinitis pigmentosa, obesity, short stature and @PHENOTYPICFEATURE$, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	has_symptom
+2fdc89364a0dddc30fa9687ba76cb24d8be88b2e	We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, @PHENOTYPICFEATURE$, short stature and @DISEASE$, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+121fabc825362632d2525ef0dc7fd8917f75f7ae	We report humans with @DISEASE$ who display intellectual disability, retinitis pigmentosa, obesity, @PHENOTYPICFEATURE$ and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+385ab86a9a49643c77d69a09a8621cf3a348df52	We report humans with Bardet-Biedl syndrome who display intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+4009b2edfa57b3c9f3a47947360eb39bee1e4c80	We report humans with Bardet-Biedl syndrome who display intellectual disability, @DISEASE$, obesity, @PHENOTYPICFEATURE$ and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+698bcb39f7163ab5211fd670683ea21d0d5202a0	We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, @PHENOTYPICFEATURE$ and @DISEASE$, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+d61dccdbc004955fa43b89271d69f1a50e47328d	We report humans with @DISEASE$ who display intellectual disability, retinitis pigmentosa, @PHENOTYPICFEATURE$, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression.	false
+d4c1b3486a4536b1971576268f9bfa01175f6e32	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	has_symptom
+c8e9545a7e535600ff5a4d209843574fa076f8dd	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	has_symptom
+bcfa3ad3024f5a17889b2fd2109a09684cb88c0a	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	has_symptom
+b06a2603668ad5794602e1ec5c9e767dd28cbe0b	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+4babf521a0798544374e12162dd9be9ca9ff0f29	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal @DISEASE$, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+20852cd3f5f406fa9515ac0699f1eb4f65b7acab	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+a36111c0cb714231308ddf79e04e29bf4b9f8508	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), @DISEASE$ or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+8142969fad7bf77d875d5c9c0afd6c63e863cb42	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9cc8f1f0f5e3c27a338c5b66c2e76708607208b9	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+d0b31882ef930cfda6692de448fad52d2696b396	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+0455c4862f22b16ba722f1cff60ec4ba0918f788	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), @DISEASE$ or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9425c3da29c32f80da964e5f7362e7bcd35453c2	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, @DISEASE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+6c2acc7884046fc0876c869bcf6e469c9366e167	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or @DISEASE$ retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+05ca554a5cd073591de6c3f33f2922685bcbb450	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+255089afd374bc32eeceb95faadf124136b9ed88	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or @DISEASE$ retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+13fc4b163e5a5f2119a43ca6fffae0c15b88ce6e	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or @DISEASE$ retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+4eac949e5d10fe864bcd85beefd12b98ef3924b3	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+72b9dad8b0f60ad55e5f060aa0e6b634811bd8a1	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary @DISEASE$, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9a6adcc41ff1849e058cb19551645af544bd3ad9	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, @DISEASE$ or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+83c9fc0c6743c0da59fc8723c36a85cd0110b96d	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @DISEASE$ or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+5f5baa26fc068dd20b24426aabf77ca53331d4a9	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary @DISEASE$, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+7c2dbb67dadeafb2964989422350aad7c3ffd191	Bardet-Biedl syndrome (BBS) is a genetic @DISEASE$ (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+ad8956c651caf1c5937ad390d8e6d729d53630a6	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, @DISEASE$ or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+579fa9860737815b494d7a73196387e4f11c50af	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary @DISEASE$, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9710788aff77897e45f92153070c4dfe7b2f9898	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, @DISEASE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9ce45fcead3fac8796ffc7b0bb1e54f33f466c59	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+06e6c2694d82390877c876a59e420279e70af6e3	Bardet-Biedl syndrome (BBS) is a genetic @DISEASE$ (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9169ca12503ff8e414619a16ab3707c966d19857	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), @DISEASE$ or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+c5066b2c4f5a949b6d58176b9be4147c9656a301	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, @DISEASE$ or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+0e35e3667b217f7533ef74cebb38abc5cb65e65d	Bardet-Biedl syndrome (BBS) is a genetic @DISEASE$ (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+fa12e02659b618b384ba4b2cce10365672d755ba	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal @DISEASE$, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+62d4b5375b76202755c99702e1f991cbf1381be0	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal @DISEASE$, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+c6e23e78df1f61fe42258eceaefcb58f30a8f18c	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+7380f77dd19b18dc10ca793d33b98aacb376b093	@DISEASE$ (OMIM 600374) is characterized by poly/syn/@PHENOTYPICFEATURE$, retinal degeneration, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities.	has_symptom
+7288708670efc64f5112d4755212015bb8d73020	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, @PHENOTYPICFEATURE$, obesity, @DISEASE$, and kidney abnormalities.	false
+a26ba72dd2d7bcf52b06ebcc7d043dad170a177f	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, @PHENOTYPICFEATURE$, hypogonadism, mental retardation, obesity, @DISEASE$, and kidney abnormalities.	false
+5dbdd65ebf64768c2aab95e65a7358ddea52edfc	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/@DISEASE$, retinal degeneration, hypogonadism, mental retardation, @PHENOTYPICFEATURE$, diabetes, and kidney abnormalities.	false
+e8df28e91ce5c3761d6f0eeadcfcb637041ceefe	@DISEASE$ (OMIM 600374) is characterized by poly/syn/brachydactyly, @PHENOTYPICFEATURE$, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities.	false
+7cf9e36b2f88d8157069a9544211279c452ec2eb	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, @DISEASE$, @PHENOTYPICFEATURE$, obesity, diabetes, and kidney abnormalities.	false
+1057c195d10d7ba237b6df7828f301057baa6602	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/@DISEASE$, retinal degeneration, hypogonadism, @PHENOTYPICFEATURE$, obesity, diabetes, and kidney abnormalities.	false
+b6c1419623585a6bba4cc927d60377f67275f112	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/@DISEASE$, @PHENOTYPICFEATURE$, hypogonadism, mental retardation, obesity, diabetes, and kidney abnormalities.	false
+b6d988e8584bf42f519ce4b3f70b3d4f76abd614	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, diabetes, and kidney abnormalities.	false
+642424a0a2638e0671e14fe1639540fcc99f90e7	@DISEASE$ (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, @PHENOTYPICFEATURE$, obesity, diabetes, and kidney abnormalities.	false
+875a5910da9647e29d77d2e6ef1bd5c7bfc4cfd5	@DISEASE$ (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, mental retardation, @PHENOTYPICFEATURE$, diabetes, and kidney abnormalities.	false
+9a989b569603eea936089d7c49d4aa9c778508b8	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, obesity, diabetes, and kidney abnormalities.	false
+446716bd367398585a4a1137296c5e0d7bce2aa5	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, hypogonadism, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and kidney abnormalities.	false
+5c065a2571f6f4983b81cbbf9cb26852574f14f9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	has_symptom
+4de9cabf940ddfc329b1cfe86bca3b94cf355d3f	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+bb2a679d3ba60eaf94c8e181e5d0fffae8e1a2ce	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+53d3aeaedd31affa377c0cb2403ade1b9a4cd78e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+d2f9938d4ed609b11cdbfe4f93953d9b98940b59	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+2f892a351a10dfb968e106b194c2cf72987b3ec9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+7ac689d0d0bffd716be543cf44345e77a300be45	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @DISEASE$ or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c94135fecc8a1bd73ca2e249934a8581683de303	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+22e01794db2ce1eea96785e1f82272b243a61481	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b24391f8f8229da94c896ddabdf6ff2d1f5aacf0	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1195e95322cc264d73229b2a68f4c61c03653d4c	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+7415f2d7dee5bac3064cd05243543ceefbf15db8	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b3ff9eaacf251b2d2f69248da6ffc6ba5f44fca0	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+0bce788bc8a92c7ab9f74fc2cf5e9cab537d14f3	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @DISEASE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c07dace6c9b20f97590f519f372516ec9bb25ee5	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+7995b13ddad61d9b26a9aa62ddfa071a9460b202	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @DISEASE$ or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+bb45d2580870719a3522feac12bf626349e8bfb6	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+5b80dbf3f26cf5f384c0690ef417902ebd8370b9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+ba7470e5b198e7d3a3b5176cb25036e0373f3c4f	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+237e1f24873c7bb696c7c478f6d11b9a727407b3	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+ed4b3a0e2ba8c87075943aefff2ff7f90941cd10	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @DISEASE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+57ed347b5d9e644f738cac5afbf8708f1497f83e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+074a8d823f761dff50d1398dd7cba6ca06f62bb9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c95d999b4f36a935c31ebe41d7a7fc59ff953285	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c62f560cf24df747a724529a6e43f98a0fa12221	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+8be94d021718ced7ea60bc599bde04b176b2030b	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+73c8d5a90d32653929f8b1e553614cb4513722f9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+e8baa821e338b63e0227e347482949e51f036890	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @DISEASE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+fabb2c751a8874a6881f65481867c922c92eba07	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, @DISEASE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+a448a34e018ce794566490022e7c74082d9152d1	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1d47bdd9519b5f15df223a402d349694732e1582	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b5938f49accae7adc901bd8d6ec542301137f039	In conclusion, we want to remember the necessity to perform a complete metabolic workup in a patient with clinical manifestations suggestive for @DISEASE$, and the importance of early recognition of the signs and symptoms of @PHENOTYPICFEATURE$ hydrocephalus, a possible complication of this condition.	has_symptom
+fbe4bfca9d2a44104123f948130e85554fb6ebc3	In conclusion, we want to remember the necessity to perform a complete metabolic workup in a patient with clinical manifestations suggestive for @DISEASE$, and the importance of early recognition of the signs and symptoms of hypertensive @PHENOTYPICFEATURE$, a possible complication of this condition.	false
+d85762b55ce6ccc3638e3ac91b92e8245c7f2cab	In conclusion, we want to remember the necessity to perform a complete metabolic workup in a patient with clinical manifestations suggestive for homocystinuria, and the importance of early recognition of the signs and symptoms of @DISEASE$ @PHENOTYPICFEATURE$, a possible complication of this condition.	false
+2fe5d310147cbbf81decc62628c0f95a41c0be91	Microcephaly-lymphoedema-chorioretinal dysplasia (@DISEASE$) is a rare syndrome characterized by @PHENOTYPICFEATURE$, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype.	has_symptom
+a195293e6874b20990946ba93ea820f0acd2bb42	The microcephaly-lymphedema-chorioretinal dysplasia (@DISEASE$) syndrome is a distinct @PHENOTYPICFEATURE$ syndrome.	has_symptom
+f834247c416e3d96cca0c85aec97f82f147642ac	The @DISEASE$ (MLCRD) syndrome is a distinct @PHENOTYPICFEATURE$ syndrome.	has_symptom
+6359edf79201bf68c84934ff68ead08b09006c36	Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of @PHENOTYPICFEATURE$ and lymphedema from a @DISEASE$ cohort.	has_symptom
+5e5dcf2d973d975ea2b5c72c52b4398b4d4b612d	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause @PHENOTYPICFEATURE$, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR).	has_symptom
+3f1cb5c25e5117c9b7c2920db74e5d2e8e4db69a	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, @PHENOTYPICFEATURE$, and mental retardation (CDMMR).	has_symptom
+11d23c9b2a58c3c8c99bfcd7610b6153d20a8086	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause @DISEASE$, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+86ddc9c971eef21ad613bbebde5ec9e56a5a9d94	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+6e87fc34f044787e72912b9025510c148f7ee7a0	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (@DISEASE$) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+a1cde2814c743e45cfb0af96d66dd2428b2aba5f	Retinal detachment with avascularity of the peripheral retina, typically associated with familial exudative vitreoretinopathy (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$ (CDMMR).	false
+e16276c8e290ed685e83a8af605d10628c4d579c	As a result, cases of @DISEASE$ should be considered at high risk for cancer for life while patients with Darier's erythema aged more than 40 years should not be necessarily tested for @PHENOTYPICFEATURE$ unless they have suffered dermatosis for at least three years.	has_symptom
+4a9b47ddb5f235cbf923d51be68e9babf5a3ea36	The frequency of subsequent @PHENOTYPICFEATURE$ development in patients suffering from @DISEASE$ and Darier's erythema as well as cases of concurrent dermatosis and malignant diseases was studied.	has_symptom
+eab65063cd88ea231546ab3139bea77a4af16c3c	@DISEASE$ was found to be associated predominantly with @PHENOTYPICFEATURE$ while the incidence of Darier's erythema was not.	has_symptom
+0e0676471587b7be4c839f9f1f2daf8b4082d783	Patients with anaplastic large cell lymphoma (ALCL) often present with @PHENOTYPICFEATURE$-mediated skin changes, including pseudocarcinomatous hyperplasia (PCH), @DISEASE$, and tissue neutrophilia.	has_symptom
+8d78e990b8c175172744c15d3e332a2b04a0765c	@DISEASE$ has been associated with "solid" @PHENOTYPICFEATURE$ such as carcinomas of the lung, colon, and breast in only a few cases.	has_symptom
+936b1a6eed4fa7e69b6539563007feaf92c87279	[@DISEASE$ caused by bladder @PHENOTYPICFEATURE$.	has_symptom
+cbe33d165a75778c6a971e5c9fd588455183a199	@PHENOTYPICFEATURE$ and parathyroid hormone-related protein in @DISEASE$.	has_symptom
+401533ab6c102f8839e2f1cf7e76694dc298d320	Transcatheter arterial chemo-embolization for humoral @PHENOTYPICFEATURE$ of @DISEASE$.	has_symptom
+1c96f0373c658b836031f97ce3691a6354029057	This manuscript describes two @DISEASE$ patients who manifested with hypercholesterolaemia, hypoglycaemia, @PHENOTYPICFEATURE$ and erythrocytosis during their clinical course.	has_symptom
+6c0271365ede193b061ba5bd6378af01e345ec49	This manuscript describes two @DISEASE$ patients who manifested with hypercholesterolaemia, @PHENOTYPICFEATURE$, hypercalcaemia and erythrocytosis during their clinical course.	false
+514a09effd076391b32d6fbe9e3913285cb00cce	This manuscript describes two HCC patients who manifested with hypercholesterolaemia, @PHENOTYPICFEATURE$, @DISEASE$ and erythrocytosis during their clinical course.	false
+4180ac2755d2a009a851ed86249b0496ffafd604	@PHENOTYPICFEATURE$ encephalopathy in a patient with @DISEASE$.	has_symptom
+ef3056520eb39df2d702cc68d34b674028287115	@DISEASE$ @PHENOTYPICFEATURE$ in a patient with hepatocellular carcinoma.	false
+6ca5f9375e2d8690e2fba7a44f093a196107c1f9	Hypercalcemic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+9b7cca2423d13205dc1b832e8effe62cfb65569d	Hypercholesterolaemia, hypoglycaemia, @PHENOTYPICFEATURE$ and erythrocytosis, are well-known paraneoplastic manifestations in patients with @DISEASE$ (HCC).	has_symptom
+3f1f17bfd665f6ce1ccaf352782935f04184bf2f	Humoral @PHENOTYPICFEATURE$ of @DISEASE$ associated with elevated levels of parathyroid-hormone-related-peptide.	has_symptom
+39f42178662179de1bb9f17092e6f50acc4c0cc8	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with @DISEASE$, 5 with agenesis of corpus callosum and septum pellucidum without optical lesion (2 with @PHENOTYPICFEATURE$), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	has_symptom
+35700ed044ecabded0e8f8387631a77cabc2e81a	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with @DISEASE$, 5 with @PHENOTYPICFEATURE$ and septum pellucidum without optical lesion (2 with cleft palate), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	false
+fe042faf229a04a9c00132fc43c1c343c7c4913a	14 cases of @DISEASE$ associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with @PHENOTYPICFEATURE$ and septum pellucidum without optical lesion (2 with cleft palate), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	false
+c9db0bb431aecf69e9bdd233f17e1df4a7fe2237	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with @PHENOTYPICFEATURE$ and septum pellucidum without optical lesion (2 with @DISEASE$), 1 with familial pituitary aplasia and 1 with mediofrontal cutaneous aplasia.	false
+50e604f31d97b6c14daad64c18887478b8406398	14 cases of hypopituitarism associated with mid-line defects are reported: 7 with septo-optic dysplasia, 5 with @PHENOTYPICFEATURE$ and septum pellucidum without optical lesion (2 with cleft palate), 1 with familial @DISEASE$ aplasia and 1 with mediofrontal cutaneous aplasia.	false
+1fb77ae6ecb6d23eb64ba6e4208032ff42ca89cf	Genetic mutations in any of these factors can lead to congenital hypopituitarism in association with a wide spectrum of craniofacial/midline defects ranging from incompatibility with life to holoprosencephaly (HPE) and @PHENOTYPICFEATURE$ and septo-optic dysplasia (@DISEASE$).	has_symptom
+32bf80db685a46afbd27bfd1e9d7d45eb7ba4254	Genetic mutations in any of these factors can lead to congenital hypopituitarism in association with a wide spectrum of craniofacial/midline defects ranging from incompatibility with life to holoprosencephaly (HPE) and @PHENOTYPICFEATURE$ and @DISEASE$ (SOD).	has_symptom
+44e147893464124bfc2359cd247cda84fe1eeabd	In turn, these defects can be incompatible with life, or lead to disorders encompassing holoprosencephaly (HPE) and @PHENOTYPICFEATURE$, and @DISEASE$ (SOD).	has_symptom
+1a059d4a757b96025f468d82949a3c96f13f5139	In turn, these defects can be incompatible with life, or lead to disorders encompassing holoprosencephaly (HPE) and @PHENOTYPICFEATURE$, and septo-optic dysplasia (@DISEASE$).	has_symptom
+1cca343f5ccd0232c3eaa7024fc57722e8294d46	Commonly reported findings include dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, developmental delay, and genitourinary abnormalities.	has_symptom
+d55ffa518ec86011dec3aafbfb6913f3b590ad26	This was a boy with @PHENOTYPICFEATURE$, telecanthus, minor @DISEASE$ anomalies, and ambiguous genitalia.	has_symptom
+ad3350676639a9f7631697af3bbc43d1aa04a8c6	Nager anomaly with severe @DISEASE$ involvement, @PHENOTYPICFEATURE$, and mental retardation.	has_symptom
+b6f137c006ef58ffab0b5d9e0e5d03a564e769c6	Nager anomaly with severe facial involvement, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8a86a8cac122285723547ed041011fb769018110	Nager anomaly with severe @DISEASE$ involvement, microcephaly, and @PHENOTYPICFEATURE$.	false
+da83be742d46de4ad923f201e422d49032ba8d05	Two brothers with @DISEASE$ anomalies, @PHENOTYPICFEATURE$, hypoplastic genitalia, and a failure of psychomotor development.	has_symptom
+e255b6bc931f323210dcf64410cf72b887787f24	Microphthalmia, @DISEASE$ anomalies, @PHENOTYPICFEATURE$, thumb and hallux hypoplasia, and agammaglobulinemia.	has_symptom
+c75ffa7dcfc55c27d462bf7e8b67f5faa7be1df4	The main features are @PHENOTYPICFEATURE$, occipital encephalocoele with associated midline @DISEASE$ defects, renal and limb anomalies.	has_symptom
+2e93976924f9d703404a244dfc099598cc28095f	The main features are @DISEASE$, occipital encephalocoele with associated midline facial defects, renal and @PHENOTYPICFEATURE$.	false
+414dc7d98aec9cab09534f874989d38899475b7b	The main features are microcephaly, occipital encephalocoele with associated midline @DISEASE$ defects, renal and @PHENOTYPICFEATURE$.	false
+7dd090a0d0e34a6eb93f757469b76363042f950a	It can be associated with @PHENOTYPICFEATURE$ and midline @DISEASE$ anomalies.	has_symptom
+149f7e5f527bc7fd45642695bdf5a6603d040e34	Mosaicism Causes @PHENOTYPICFEATURE$, Severe Developmental Delay, and @DISEASE$ Dysmorphic Features but No Cardiac Anomalies.	has_symptom
+cbde327cb0f8c05d71e8a0ac8be5f5a2bad93e3c	She presented @PHENOTYPICFEATURE$, speech delay, growth retardation and minor @DISEASE$ anomalies.	has_symptom
+82a9a67a6cf09318078e468ef3c8abca45005b9d	She presented microcephaly, speech delay, @PHENOTYPICFEATURE$ and minor @DISEASE$ anomalies.	false
+050f5b91e61516eaf6b0a0ea40ae288d06bc3b81	She presented @DISEASE$, speech delay, @PHENOTYPICFEATURE$ and minor facial anomalies.	false
+113dbbff4c645fb454035ec9814cb4b9f32895b2	Syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.	has_symptom
+dbb6d89d03105b300d905c4b2147539d8b56a5a4	An insidious onset of unexplained fever, weight loss, skin lesions, @PHENOTYPICFEATURE$, and musculoskeletal pain should suggest the diagnosis of @DISEASE$ (PAN).	has_symptom
+8143b4651b9d10a55b774595068d0d5cfac68daf	A 66-year-old woman with @DISEASE$ had @PHENOTYPICFEATURE$ and melena with guarding.	has_symptom
+4ff0c1424f4b386b915a9d114ec61d2389c62550	A 40-year-old Japanese man who developed upper @PHENOTYPICFEATURE$, weight loss, and hypertension was diagnosed as suffering with @DISEASE$ (PAN) with lesions of the superior mesenteric artery (SMA).	has_symptom
+0a59e56ace7da8ef49d9a1629e4b2d173104afe7	Epigastric and @PHENOTYPICFEATURE$, nausea and vomiting, weight loss and @DISEASE$-ileocolitis were predictive of upper gastrointestinal involvement (P < 0.05).	has_symptom
+c1c9941512dc289a6376332a1ce916200b964108	Epigastric and abdominal pain, @PHENOTYPICFEATURE$, weight loss and pan-@DISEASE$ were predictive of upper gastrointestinal involvement (P < 0.05).	false
+4cb1cde7e0d4042b732fa4212b3a0dfed0bb8b3a	Epigastric and abdominal pain, @PHENOTYPICFEATURE$, weight loss and @DISEASE$-ileocolitis were predictive of upper gastrointestinal involvement (P < 0.05).	false
+cdfdccc48912e16c208bd9eeda9a1e7e5dca3398	Epigastric and @DISEASE$, @PHENOTYPICFEATURE$, weight loss and pan-ileocolitis were predictive of upper gastrointestinal involvement (P < 0.05).	false
+d4ca99ecc262abba29d19cafeb4ad2b6660fef56	Clinical signs depend on atheroma localization, intensity and repetition of embols and topography of arteriolar beds susceptible to be embolized: livedo reticularis, acute renal failure with high blood pressure, limbs or @PHENOTYPICFEATURE$, @DISEASE$-like syndrome.	has_symptom
+5b845533b77df22f37f406fbf120d8ce3f475186	HBV associated @DISEASE$ patients have higher weight loss, peripheral neuropathy, mononeuritis multiplex, @PHENOTYPICFEATURE$, gastrointestinal manifestations requiring surgery, cardiomyopathy, orchitis, hypertension, and/or elevated transaminase levels.	has_symptom
+1590955be10e50ff0f61d100eab22928dc3ac8c1	HBV associated PAN patients have higher weight loss, @PHENOTYPICFEATURE$, mononeuritis multiplex, abdominal pain, gastrointestinal manifestations requiring surgery, @DISEASE$, orchitis, hypertension, and/or elevated transaminase levels.	false
+011db7758d8e6bd0e7d192f2c0ad7b0f2d184d7f	HBV associated PAN patients have higher weight loss, @PHENOTYPICFEATURE$, mononeuritis multiplex, @DISEASE$, gastrointestinal manifestations requiring surgery, cardiomyopathy, orchitis, hypertension, and/or elevated transaminase levels.	false
+0408b5c74d2370f749c7793d07bdddba36d4d659	HBV associated @DISEASE$ patients have higher weight loss, @PHENOTYPICFEATURE$, mononeuritis multiplex, abdominal pain, gastrointestinal manifestations requiring surgery, cardiomyopathy, orchitis, hypertension, and/or elevated transaminase levels.	false
+cb987d0ef3896ba71f9fdb6bf78861e65e438b8f	@DISEASE$ (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central @PHENOTYPICFEATURE$, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene.	has_symptom
+0d9fbb70fe51c62a3112a01901b937348d35b518	This finding is clearly distinguishable from the other known patterns of @PHENOTYPICFEATURE$ and could be pathognomonic of the @DISEASE$.	has_symptom
+a06fc1ab93536b2967b7664714cd240a157ea9cc	@PHENOTYPICFEATURE$ in cerebro-oculo-facio-skeletal (@DISEASE$) syndrome.	has_symptom
+41f1f078c6e8c0f0785589f6066e422d3306a5af	Although no clinical differences between patients carrying EDA1, EDAR, or EDARADD mutations could be identified, patients harboring WNT10A mutations displayed distinctive clinical features (marked dental phenotype, no @PHENOTYPICFEATURE$), helping to decide which gene should be first investigated in @DISEASE$/EDA.	has_symptom
+1dd8a05adb5b404a7416fe9f11ef1a359128c4ac	The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of @DISEASE$ with sparse hair, @PHENOTYPICFEATURE$, delayed eruption of teeth, and sweat gland abnormalities.	has_symptom
+54ebcba31ed58c1e769ed1993bdedaadc62cf183	The child had mild osteopetrosis without neurosensory complications, unilateral @PHENOTYPICFEATURE$ of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, @DISEASE$, delayed eruption of teeth, and sweat gland abnormalities.	false
+039a9b5ec740a32d44b483602d28da489f70c585	The child had mild osteopetrosis without neurosensory complications, unilateral @PHENOTYPICFEATURE$ of the left leg, and characteristic features of @DISEASE$ with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities.	false
+cf0f76a14bbe9539ca66cec5bc31d082f8ceeeef	Correcting @PHENOTYPICFEATURE$ in a patient with @DISEASE$: a clinical report.	has_symptom
+923cb65e45392e665bbe5c63e6f19c165e16a250	A new autosomal dominant syndrome of @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+94eeb60f72be826585b9a8d40c95f8b096113b2f	@DISEASE$ (RTT) is a genetic disorder characterized by a range of features including cognitive impairment, @PHENOTYPICFEATURE$ and a reduction in purposeful hand skills.	has_symptom
+74fdd7c57e5f5821c26e3a41ab6c0c6b266c4125	@DISEASE$ (RTT) is a genetic disorder characterized by a range of features including @PHENOTYPICFEATURE$, gait abnormalities and a reduction in purposeful hand skills.	false
+823a529fa6179c1604241d6cea5f8ccb59228329	Rett syndrome (RTT) is a @DISEASE$ characterized by a range of features including @PHENOTYPICFEATURE$, gait abnormalities and a reduction in purposeful hand skills.	false
+ba1201bad3e55172f5e45abc8a8cef5c1495934d	Rett syndrome (RTT) is a genetic disorder characterized by a range of features including @PHENOTYPICFEATURE$, @DISEASE$ and a reduction in purposeful hand skills.	false
+59e00aa941864b7fe68c7bf67ca5359c946cd033	@DISEASE$ (RTT) is a neurodevelopmental disorder, which almost exclusively affects girls, who, after an initial period of apparently normal development, display gradual loss of speech and purposeful hand use, @PHENOTYPICFEATURE$ and stereotypical hand movements.	has_symptom
+e6fdad63cee91993204fb64980dafec7c24dbb58	A deletion in the @DISEASE$ (Hps4) gene appears to be responsible for @PHENOTYPICFEATURE$ in channel catfish.	has_symptom
+6005672d7574977c4c716a57515b5c8e0eaf4a0c	Most importantly, a low zinc status seems to be associated with an increased incidence rate of @PHENOTYPICFEATURE$, hypotonia, and attention and hyperactivity issues in patients with @DISEASE$, which is caused by haploinsufficiency of ProSAP2/Shank3.	has_symptom
+fc146e9796001f4fa863978f221fe9522001373a	@DISEASE$ is a genetic disorder characterized by a high incidence of heart disease, @PHENOTYPICFEATURE$, and hypertension.	has_symptom
+5b36aeab5d91f8ddb9df98d05e33814c4f967477	@DISEASE$, previously described in two unrelated patients, is the association of @PHENOTYPICFEATURE$ and abnormal thumbs and great toes.	has_symptom
+e12c2f366c2548efb92b38feb8916e9b7f082d5e	A second case of @PHENOTYPICFEATURE$ and absent nails of hallux and pollex (@DISEASE$).	has_symptom
+a48e56e0df710cbe1a6c71a5909787d2b9a97594	The @DISEASE$ consists of: retinitis pigmentosa, adiposo-genital dystrophy, @PHENOTYPICFEATURE$, mental retardation.	has_symptom
+7fdea3053e05626b97d85dc41b87b5a83dda8a37	The Laurence-Moon-Bardet-Biedl syndrome consists of: @DISEASE$, adiposo-genital dystrophy, syndactyly, @PHENOTYPICFEATURE$.	false
+77f454a03289da1125463110c460e3438b2ca24c	The @DISEASE$ consists of: retinitis pigmentosa, adiposo-genital dystrophy, syndactyly, @PHENOTYPICFEATURE$.	false
+68876bca7f49db2872013afcf654d2d632f1135b	The Laurence-Moon-Bardet-Biedl syndrome consists of: retinitis pigmentosa, adiposo-genital dystrophy, @DISEASE$, @PHENOTYPICFEATURE$.	false
+1ce2f01bd365db14217d666f4ed21a33f92c04de	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	has_symptom
+40e3df36607e377c71b2c974cb34b6c584256b32	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @PHENOTYPICFEATURE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	has_symptom
+4505ef71baea3b7d820b67b604fe5c860f6a16e1	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, @DISEASE$, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+e1dd51e8b48288a38378c300db1307e55f1439b6	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+d0d90bed60cbeb1d1ddaa468ada9ef656f3f2698	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, @DISEASE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+3e006ee42c56355d694a6af8965200d5c02688a7	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+0b02612c24ec2ee4e7340cd57db2ca1490086ce2	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+998a8e260219716945b91fed216d895d6419ef3c	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @DISEASE$ and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+a74e73c9b45715e3b310f7574d0beabe3b3cb0bf	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+98e70d8f611059efbdab23056d3c60a918e61592	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+d0ea994cb29255ca8ef1d42c94a3373f9e3a3f3d	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+f230807868cf2d85de60a0c5a8f92313319d45bc	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, @DISEASE$, syndactyly and/or polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+94f2cd6a5f6cf30d2c965eaa3f49668f82baf128	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+fa7660b4e4bdc016f5a583510d2e3be463c85dd3	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+8120b184a3020fb12c3dc439212cb6294ede6410	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+f9801b1266eb2f3bfae4f3329e23f3a25e126704	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @DISEASE$ and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+fffbc5d3d0f4f70a5170af54e0eb1ed982b69a3e	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, @DISEASE$, syndactyly and/or @PHENOTYPICFEATURE$, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+20d6beef646ed5119fbdedf470ae3e4174ea6161	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, @DISEASE$, syndactyly and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+046cf0dce3259cc27cc4b035d531804061542ad6	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinitis pigmentosa, @DISEASE$ and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+8c95a11bb40d0e5e2c88af96566eaa148fc39fa2	Bardet-Biedl Syndrome (@DISEASE$) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and @PHENOTYPICFEATURE$ and is caused by mutations at a number of distinct loci.	false
+f185a25a4d1055bcde85ee8a15a857dd8400615d	Bardet-Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, @DISEASE$ and/or polydactyly, @PHENOTYPICFEATURE$, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+916510706ba9440d91c703dc2b502f4391a78110	@DISEASE$ (BBS) is a heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci.	false
+05ca554a5cd073591de6c3f33f2922685bcbb450	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	has_symptom
+8142969fad7bf77d875d5c9c0afd6c63e863cb42	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	has_symptom
+d0b31882ef930cfda6692de448fad52d2696b396	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@PHENOTYPICFEATURE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	has_symptom
+b06a2603668ad5794602e1ec5c9e767dd28cbe0b	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+4babf521a0798544374e12162dd9be9ca9ff0f29	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal @DISEASE$, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+0aea6ad450bd38c236efc72d9a94ff4f7755d4d8	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@DISEASE$, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+20852cd3f5f406fa9515ac0699f1eb4f65b7acab	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+a36111c0cb714231308ddf79e04e29bf4b9f8508	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), @DISEASE$ or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9cc8f1f0f5e3c27a338c5b66c2e76708607208b9	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+d4c1b3486a4536b1971576268f9bfa01175f6e32	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+68d87957856f4b3e64e54605f641163c6e9c2713	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or @DISEASE$ retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+6c2acc7884046fc0876c869bcf6e469c9366e167	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or @DISEASE$ retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+c8e9545a7e535600ff5a4d209843574fa076f8dd	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with @DISEASE$ but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+13fc4b163e5a5f2119a43ca6fffae0c15b88ce6e	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or @DISEASE$ retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+171385ff82c1c3b988713e31e2f0b81fcfbcd15a	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, @DISEASE$ or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+4eac949e5d10fe864bcd85beefd12b98ef3924b3	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+72b9dad8b0f60ad55e5f060aa0e6b634811bd8a1	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary @DISEASE$, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+92f06fd15673da93fd34210b54a359508c143028	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary @DISEASE$, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9a6adcc41ff1849e058cb19551645af544bd3ad9	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, @DISEASE$ or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+777ce6b2ee45ddd5f38741a080d6bef09aa33984	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (@DISEASE$, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+579fa9860737815b494d7a73196387e4f11c50af	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary @DISEASE$, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+bcfa3ad3024f5a17889b2fd2109a09684cb88c0a	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+39d046a585ec870024b521ea5bcc23a5b132a6d9	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal @DISEASE$, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9ce45fcead3fac8796ffc7b0bb1e54f33f466c59	@DISEASE$ (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+fa9f6b818024d8d2633fa374bce8dea03020744b	Bardet-Biedl syndrome (BBS) is a genetic @DISEASE$ (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+06e6c2694d82390877c876a59e420279e70af6e3	Bardet-Biedl syndrome (BBS) is a genetic @DISEASE$ (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+0ba1e3d8404de825d3d09cad9a5d0fb5fa7645c6	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (@DISEASE$, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+9169ca12503ff8e414619a16ab3707c966d19857	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or @PHENOTYPICFEATURE$), @DISEASE$ or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+c5066b2c4f5a949b6d58176b9be4147c9656a301	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, @DISEASE$ or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+0e35e3667b217f7533ef74cebb38abc5cb65e65d	Bardet-Biedl syndrome (BBS) is a genetic @DISEASE$ (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+62d4b5375b76202755c99702e1f991cbf1381be0	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal @DISEASE$, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+5300bb87c44615d193ebbdbaf3d6d0160f05dbda	Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, @PHENOTYPICFEATURE$ or polydactyly), @DISEASE$ or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+c6e23e78df1f61fe42258eceaefcb58f30a8f18c	Bardet-Biedl syndrome (@DISEASE$) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, @PHENOTYPICFEATURE$, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment.	false
+941124bdf5d45a1812c3fbf6f4b8d19bf464f657	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	has_symptom
+8dbbf423670781a2b3ca52947177bf0526da68af	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @PHENOTYPICFEATURE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	has_symptom
+8b9590bdb053e7ecc406dcc2ade425223e633bac	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+5b27232a2273fe4f2749796d0d1b908f8fda13ee	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+45ef332b915d8b91836c3168f630ec2af6da36fd	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+29e767914ad30eaf21eb321b81aeb250e05bed53	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and @PHENOTYPICFEATURE$.	false
+af9de5edddc3bcc7007ee14be3d6d03a09b974d4	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and @DISEASE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+7630c30075ac3ad6778d2d7f120850de8731a4ed	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+d81cb30364025859001ae2fb78a03d0d4ad71cca	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+015f85c80c05eff21f5c7aa0aa188fd1ebd945fe	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and @DISEASE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+a55c7addbe1bca6488d586fe3abd93c36b0e5cba	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @PHENOTYPICFEATURE$.	false
+c4a61c8fe6edafe657f08251364fa3c66dd65256	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+db5465b15ebfe62e6889c8763c96a413ca298432	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and @PHENOTYPICFEATURE$.	false
+c3c2f235c42925bc1eb193abec4a80e5a4e86dd5	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and @DISEASE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+e80087f74d88c98fd6d37f3149bb0954638c4294	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+295b160ab24850f0bd63d45a3b6f287a8e867366	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+31b454ba9ec58940eb9bc689d5005ae428706396	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and @DISEASE$, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+b63e01d189852a902598ed6dc9140f862a3d539d	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+d5bc91114db31f00dd122d168fb9a8a04d6a1ab8	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+37c53b53b4a35908cb55a860114ceb5f6187fe8a	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+11aa55d24d2ab98b35b7ceee53368c786472b477	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, @DISEASE$, hypogenitalism, renal dysplasia and short stature.	false
+8d1a8b027046eb95f8e55bd66cdf1336f36e304e	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+96b0a7dd288e2c8718f18fe5d4881f8a58eee798	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, @PHENOTYPICFEATURE$ and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+346fe42395330660fbc192053ede9f51a8a1620d	@DISEASE$ (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature.	false
+a6641b80e8b6cb686181b2946b5bd4727ecb8ddb	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+3f2dfcf9781d1f76963e1c3b622dc9b12bffacd7	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, @PHENOTYPICFEATURE$, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, @DISEASE$ and short stature.	false
+53f004d61ad9bec7c99ab6929ef290a58e24bc39	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and @DISEASE$, diabetes mellitus, hypogenitalism, renal dysplasia and @PHENOTYPICFEATURE$.	false
+07df4346b488aa892762e2e6ad0ae5dfa035df26	On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and @PHENOTYPICFEATURE$, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of @DISEASE$ was made.	has_symptom
+d3adc639b544980966539910b3a6e08b9a76b123	On further assessment @PHENOTYPICFEATURE$, mild mental retardation, retinitis pigmentosa, polydactyly and @DISEASE$, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+fea3092f317b130a5cc5a538ca2c19d51785ead4	On further assessment @PHENOTYPICFEATURE$, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, @DISEASE$ and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+d4714a16659ad149017d50873302be3e2a835440	On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, @PHENOTYPICFEATURE$, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of @DISEASE$ was made.	false
+89dd791d181874d367f404cf0b6f4e8318a85092	On further assessment @PHENOTYPICFEATURE$, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched @DISEASE$ were noted and subsequently a diagnosis of BBS was made.	false
+2dff6aa427b1e32401f5450b16d78a8d416d585f	On further assessment autism, mild mental retardation, @DISEASE$, polydactyly and syndactyly, @PHENOTYPICFEATURE$, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+45aec1211b83cac06640512aaa68f0e818bef4d3	On further assessment @PHENOTYPICFEATURE$, mild mental retardation, @DISEASE$, polydactyly and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+6041cd292332658d382a4177ee4266b32d510c68	On further assessment autism, mild mental retardation, @DISEASE$, @PHENOTYPICFEATURE$ and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+0ce3c8f2c3fd71e87383961c7b86148c48449fa5	On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and @DISEASE$, @PHENOTYPICFEATURE$, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+edf345bfaa51920103f56eda26bee5c0c3434e99	On further assessment autism, mild mental retardation, retinitis pigmentosa, @PHENOTYPICFEATURE$ and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of @DISEASE$ was made.	false
+69d09cf9fb0eceaa874b1a46b71fb65025bc0aad	On further assessment autism, mild mental retardation, retinitis pigmentosa, @PHENOTYPICFEATURE$ and syndactyly, obesity, micropenis, maldescended testis, @DISEASE$ and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+ffd2cbd7ab95045de9d7b359c3be86ec9ad443a6	On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, @PHENOTYPICFEATURE$, micropenis, maldescended testis, @DISEASE$ and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+434b6c8bb255852064c64d6ad3a2832f1e788957	On further assessment autism, mild mental retardation, retinitis pigmentosa, @PHENOTYPICFEATURE$ and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched @DISEASE$ were noted and subsequently a diagnosis of BBS was made.	false
+1167bf9987760396368899e2e1280d600589786f	On further assessment autism, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, @PHENOTYPICFEATURE$, micropenis, maldescended testis, hypodontia and high-arched @DISEASE$ were noted and subsequently a diagnosis of BBS was made.	false
+e93c85f2caed4f5beec0c127dd5d3860ca7fee2b	On further assessment @PHENOTYPICFEATURE$, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of @DISEASE$ was made.	false
+6ea13f8d29f7183ec0b6d0cb5d82ba4d9576cfcb	On further assessment autism, mild mental retardation, retinitis pigmentosa, @PHENOTYPICFEATURE$ and @DISEASE$, obesity, micropenis, maldescended testis, hypodontia and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+237e1f24873c7bb696c7c478f6d11b9a727407b3	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	has_symptom
+4de9cabf940ddfc329b1cfe86bca3b94cf355d3f	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+bb2a679d3ba60eaf94c8e181e5d0fffae8e1a2ce	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+53d3aeaedd31affa377c0cb2403ade1b9a4cd78e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+d2f9938d4ed609b11cdbfe4f93953d9b98940b59	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+155796b9745bdcf0b8156e5ba88a50e43d1dccb9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+2f892a351a10dfb968e106b194c2cf72987b3ec9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+5c065a2571f6f4983b81cbbf9cb26852574f14f9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+22e01794db2ce1eea96785e1f82272b243a61481	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b24391f8f8229da94c896ddabdf6ff2d1f5aacf0	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1195e95322cc264d73229b2a68f4c61c03653d4c	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+7415f2d7dee5bac3064cd05243543ceefbf15db8	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+b3ff9eaacf251b2d2f69248da6ffc6ba5f44fca0	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+83076ae2c3f284a448e0d443b9f756d270267ab4	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @DISEASE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+ea8c812e72d1e0ffde08e23ff5cca41770776fc7	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @DISEASE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+81bd9e88525daa152f2977507b66014e69406fae	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or @DISEASE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+bb45d2580870719a3522feac12bf626349e8bfb6	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+5b80dbf3f26cf5f384c0690ef417902ebd8370b9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+f00179020597afb8f790103302d3a14a9d80e0f8	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+ba7470e5b198e7d3a3b5176cb25036e0373f3c4f	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+cd109cde0d129de0de619cb59834893aa592e1f7	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+57ed347b5d9e644f738cac5afbf8708f1497f83e	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, @DISEASE$, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+eaf70870d62083c5afd74ef7a47fdc6d17683fe8	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @DISEASE$, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c95d999b4f36a935c31ebe41d7a7fc59ff953285	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c62f560cf24df747a724529a6e43f98a0fa12221	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+5af3dbf3ed866fa9e6cac97a9d78c21cde014b57	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or @DISEASE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+8be94d021718ced7ea60bc599bde04b176b2030b	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, @PHENOTYPICFEATURE$, genital abnormalities, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+73c8d5a90d32653929f8b1e553614cb4513722f9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, @PHENOTYPICFEATURE$, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+4667fe815d822612b1196e9476cdd1bb315f4691	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @DISEASE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+a448a34e018ce794566490022e7c74082d9152d1	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, @DISEASE$, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1d47bdd9519b5f15df223a402d349694732e1582	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary @DISEASE$ characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+efce76c22d8fa27859b53c259e84b7de74312246	We conclude that facial-muscle weakness, speech disorders and @PHENOTYPICFEATURE$ are common in long-term survivors receiving ERT for classic infantile @DISEASE$.	has_symptom
+fa2c03e0b72a603bedec4adac828454e3ce9f0a5	We conclude that facial-muscle weakness, @PHENOTYPICFEATURE$ and dysphagia are common in long-term survivors receiving ERT for classic infantile @DISEASE$.	false
+3b5860f64e5a55f79158b2c7a8decbb80ad845c3	We conclude that facial-muscle weakness, @PHENOTYPICFEATURE$ and @DISEASE$ are common in long-term survivors receiving ERT for classic infantile Pompe disease.	false
+39ddc02d4e715a50aa23d2b21042d06b31b80804	Often associated with @DISEASE$ or @PHENOTYPICFEATURE$, it may also be isolated, without preexisting or associated disease.	has_symptom
+d8c171c107e014009dbc6bd3b1895e9d2b37d7ea	Clonal populations of CD4+ and CD8+ T cells in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+38b70fc631ff3d8d01ead78f35a79dbd78ed9f16	For inpatient native KBx, female sex, older age, higher chronic kidney disease stage, acute renal failure, lupus, vasculitis, cirrhosis, @DISEASE$/@PHENOTYPICFEATURE$, and anemia of chronic disease were independently associated with increased odds of pRBC transfusion; cirrhosis and end-stage renal disease (ESRD) were associated with increased odds, and nephrotic syndrome was associated with decreased odds, of renal angiography.	has_symptom
+e33dc5f1c804e46376e154a5c887b1b72716bda5	@DISEASE$ is still a medical problem in Nigeria, the aftermath of which leaves patients with muscular @PHENOTYPICFEATURE$, contractures and abnormalities which require elaborate treatment.	has_symptom
+17084414914deeb72ae93dec915e5e9708b60425	Poliomyelitis is still a medical problem in Nigeria, the aftermath of which leaves patients with muscular @DISEASE$, @PHENOTYPICFEATURE$ and abnormalities which require elaborate treatment.	false
+9da12a557cda3faba72ee0954a12f3bbb8d11563	@DISEASE$ is still a medical problem in Nigeria, the aftermath of which leaves patients with muscular paralysis, @PHENOTYPICFEATURE$ and abnormalities which require elaborate treatment.	false
+587ee7a85b57cf51c127b76bc019a03c4a593b38	@PHENOTYPICFEATURE$ in a case of @DISEASE$.	has_symptom
+529b7a304a2d5a15020cd1d4f05e4ff9d48ee33d	We describe a case of relapsed @DISEASE$ (Wegener's) (GPA) that presented with @PHENOTYPICFEATURE$.	has_symptom
+d2852ef477556f2e1ebd38d47d35f8bd66f9420b	@DISEASE$, an oligosaccharidosis, is characterized by severe psychomotor retardation, marked shortness of stature, coarse facies, gingival enlargement, generalized bone demineralization, periosteal cloaking of long bones visible in early infancy, a rapid deteriorating course, and death from @PHENOTYPICFEATURE$ or bronchopneumonia, usually by the age of 5 years.	has_symptom
+4bb1c4c107771689d437f676a443d53b72fcbf75	The major causes of death of patients with @DISEASE$ are @PHENOTYPICFEATURE$ and recurrent respiratory infections.	has_symptom
+590daf4f072b5a51c29b7920f943de146ef32647	Heterozygous activating mutations of the CASR cause @DISEASE$ (ADH) that may be asymptomatic or present with @PHENOTYPICFEATURE$ in the neonatal period or childhood or later in life.	has_symptom
+32caa8505bc042460202da74a470a0ea8c48385e	@DISEASE$ (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, @PHENOTYPICFEATURE$, and early-infantile-onset nephrotic syndrome.	has_symptom
+04684395449f58e324e6c4337990b62fb3b4f4e5	Galloway-Mowat syndrome (GMS) is a rare @DISEASE$, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.	false
+88eb136fa1ee318066d039a66e6e73543cde0fe9	@DISEASE$ (GMS) is a rare autosomal recessive disease, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome.	false
+f0ff55d1e2a0ae2b6c77e0debdab01c8360cf36e	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, @DISEASE$, and early-infantile-onset nephrotic syndrome.	false
+fa00e7e5f446c63fcdf46b17c4b02d0f606f5397	Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by @PHENOTYPICFEATURE$ with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset @DISEASE$.	false
+eb7e5b4a9701fc9f69c969b41ffe819d3c543ee1	Altogether, WDR73 mutations cause @DISEASE$ in a particular subset of individuals presenting with late-onset nephrotic syndrome, postnatal microcephaly, severe @PHENOTYPICFEATURE$, and homogenous brain MRI features.	has_symptom
+9ed4198b9146d57b4bc99bfce8bf7f368f143bca	DMS is a phenotypic expression of syndromic entities such as WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$), Denys Drash syndrome, Pierson syndrome, Frasier syndrome, or @DISEASE$.	has_symptom
+892854d3a007c9bcef35880dc1d148e29f7cb8b3	@DISEASE$ (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, @PHENOTYPICFEATURE$ and neural-migration defects.	has_symptom
+3139d62ea261a405090090e84f8b14936aec0f28	@DISEASE$ (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with @PHENOTYPICFEATURE$, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects.	false
+2b10df6febf4acb339d7e63425958de8db650cc0	Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by @DISEASE$ associated with @PHENOTYPICFEATURE$, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects.	false
+66a662053566f31037f83ae915e8bce4d116ba02	Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with @PHENOTYPICFEATURE$, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, @DISEASE$ and neural-migration defects.	false
+c0e7f86b5df5c9a76826b82336c275b63122d7fc	@DISEASE$ causing @PHENOTYPICFEATURE$.	has_symptom
+0abc76d4f959ae939e4dc4d7a33e5f1824f4d155	@DISEASE$ (BWS) is an overgrowth disorder with increased risk of paediatric @PHENOTYPICFEATURE$.	has_symptom
+39b2481d66381328791df46f083845abb0d40a07	Beckwith-Wiedemann syndrome (@DISEASE$) is an overgrowth disorder with increased risk of paediatric @PHENOTYPICFEATURE$.	has_symptom
+e84d152e4ef21bd1f50d4cf582f9afc81b17c432	This report expands the list of @PHENOTYPICFEATURE$ to be found in @DISEASE$ (BWS).	has_symptom
+903b5731f2bfd34c460f6522adec40bc87d9addc	This report expands the list of @PHENOTYPICFEATURE$ to be found in Beckwith-Wiedemann syndrome (@DISEASE$).	has_symptom
+e892d990238c43806e695d30af9c07999922c2ee	@DISEASE$ (BWS) is the most common congenital overgrowth syndrome involving @PHENOTYPICFEATURE$ predisposition.	has_symptom
+11796735c67d6c1848197e1822a5d855c3111878	Beckwith-Wiedemann syndrome (@DISEASE$) is the most common congenital overgrowth syndrome involving @PHENOTYPICFEATURE$ predisposition.	has_symptom
+a0e616fc54a2dd4f7b06f3354ba7d0e74c3548f5	Childhood ACC is part of the classical @PHENOTYPICFEATURE$ spectrum of LFS and Beckwith-Wiedemann syndrome (@DISEASE$).	has_symptom
+981524a0e7a887cbfb0d338cfff3ad4f9411484e	Childhood ACC is part of the classical @PHENOTYPICFEATURE$ spectrum of LFS and @DISEASE$ (BWS).	has_symptom
+2c0479d76c95859c3f1b08cff8f63b5e57ec0826	Beckwith-Wiedemann syndrome (@DISEASE$) is a congenital overgrowth syndrome with associated embryonal @PHENOTYPICFEATURE$.	has_symptom
+7ecc6c07db4646345882471e95cfe46519d67456	@DISEASE$ (BWS) is a congenital overgrowth syndrome with associated embryonal @PHENOTYPICFEATURE$.	has_symptom
+910bf156be8e7776c42fb9cb1952e469e80ed2bf	A patient with Beckwith-Wiedemann syndrome (@DISEASE$) presented with Wilms' @PHENOTYPICFEATURE$.	has_symptom
+7148fa7878a241ef8e4db138bbe2e49b8af3eb90	A patient with @DISEASE$ (BWS) presented with Wilms' @PHENOTYPICFEATURE$.	has_symptom
+97638055427b471a27a21f189ef22fa28fe3c217	which is associated with Beckwith-Wiedemann syndrome (@DISEASE$) and certain childhood and adult @PHENOTYPICFEATURE$.	has_symptom
+d7fb3c1583cc48867d9013785d1b050122ba8290	which is associated with @DISEASE$ (BWS) and certain childhood and adult @PHENOTYPICFEATURE$.	has_symptom
+2a34261bea6859b71f90ea7b99e15cf1fad57a50	Beckwith-Wiedemann syndrome (@DISEASE$) can be associated with embryonal @PHENOTYPICFEATURE$ and congenital hyperinsulinism (CHI).	has_symptom
+fc74ecddaf9338f21501e91baa0dcf3ef9629147	@DISEASE$ (BWS) can be associated with embryonal @PHENOTYPICFEATURE$ and congenital hyperinsulinism (CHI).	has_symptom
+ecfeca1d547e8d53d5d94b467b300eafc91cb73d	@DISEASE$ (BWS) comprises multiple congenital anomalies with a risk of childhood @PHENOTYPICFEATURE$.	has_symptom
+18ce83327d7114b16250e69c91dee0f87a25baf3	Beckwith-Wiedemann syndrome (@DISEASE$) comprises multiple congenital anomalies with a risk of childhood @PHENOTYPICFEATURE$.	has_symptom
+6cb1424417a6817e53645302b7c7a46c878d7a1d	Epigenotyping as a tool for the prediction of tumor risk and @PHENOTYPICFEATURE$ type in patients with @DISEASE$ (BWS).	has_symptom
+9dbc183900fddb9669befcc0774a3ba7b9b58ddf	Epigenotyping as a tool for the prediction of @PHENOTYPICFEATURE$ risk and tumor type in patients with @DISEASE$ (BWS).	has_symptom
+431286f3c8672f0d019bd8888aa1b0b8d1723fb5	Epigenotyping as a tool for the prediction of tumor risk and @PHENOTYPICFEATURE$ type in patients with Beckwith-Wiedemann syndrome (@DISEASE$).	has_symptom
+c79bea36542585e62ca40f7f828c5e56a4bb451b	Epigenotyping as a tool for the prediction of @PHENOTYPICFEATURE$ risk and tumor type in patients with Beckwith-Wiedemann syndrome (@DISEASE$).	has_symptom
+4acdccb84bd7f23e9e1504ebe888f6a3223575db	We produced an elaboration of more than 160,000 items of biochemical data of 25 @DISEASE$ patients with chronic articular @PHENOTYPICFEATURE$, and 25 patients asymptomatic for joint pain and arthropathy.	has_symptom
+05de98253942740e125f733e73c54f4b559796f5	@DISEASE$ (HED) is a rare disease characterized by the hypoplasia or absence of eccrine glands, dry skin, scant hair, and @PHENOTYPICFEATURE$.	has_symptom
+2219dccda9a0291a20a81a65deb0cfc66e8b30fc	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, @PHENOTYPICFEATURE$, spina bifida, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-@DISEASE$.	has_symptom
+25cfc0442d9c6848d931aa4f909ac88e1637882e	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), @DISEASE$, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+90f1ff4ba3cbb629d42eb4c2d11edb0b0fcec970	We have used xeroradiography to study normal and abnormal fetuses including some with @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+a304c06cea82d72701e08b9adb84851f1f24ea73	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, @DISEASE$, and Pena-Shokeir syndrome.	false
+beb15f9298af41ef81f22b937745d89cdf513472	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-@DISEASE$.	false
+b751b17a03f3267b5214c1458898c83e159b4a0b	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, @DISEASE$, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+0f107872a22a0ac89983f0d7ed674c80c63b18fc	Megalencephalic leukoencephalopathy with subcortical cysts is a @DISEASE$ characterized by macrocephaly and a slowly progressive clinical course marked by @PHENOTYPICFEATURE$ and cognitive decline.	has_symptom
+a79e4d7e6313461f63b7159611f8b90575ab4178	@DISEASE$ is a rare leukodystrophy characterized by @PHENOTYPICFEATURE$ and a slowly progressive clinical course marked by spasticity and cognitive decline.	false
+20cc9a15d968bb6dee02b477b0a7d0f3de51a50c	Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by @PHENOTYPICFEATURE$ and a slowly progressive clinical course marked by @DISEASE$ and cognitive decline.	false
+9f55123899252d7d11f5fae1074e350c6d3c38d3	Megalencephalic leukoencephalopathy with subcortical cysts is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ and a slowly progressive clinical course marked by spasticity and cognitive decline.	false
+4e5385a933563570e5c72ec7bafb7a6689d21c92	Patients with @DISEASE$ had cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and cerebellar vermian hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and @PHENOTYPICFEATURE$.	has_symptom
+180b2c39f6a9c2407731204a9fa3529a559345af	Patients with muscle-eye-brain disease had cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and @PHENOTYPICFEATURE$, patchy hypomyelination, and variable callosal hypogenesis and @DISEASE$.	false
+e9dfa24d674ef924022cfe38b99f1a220d2df2ed	Patients with @DISEASE$ had cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and @PHENOTYPICFEATURE$, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.	false
+d915e2d60f40024c67030dac5aa70596de4d396a	Patients with muscle-eye-brain disease had cerebellar polymicrogyria (with or without cysts), absence of the septum pellucidum, diffuse @DISEASE$, pontine and @PHENOTYPICFEATURE$, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.	false
+3608720241ce7a6bd969d29181dd1a4407f3f122	Patients with muscle-eye-brain disease had cerebellar @DISEASE$ (with or without cysts), absence of the septum pellucidum, diffuse cerebral cortical dysplasia, pontine and @PHENOTYPICFEATURE$, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.	false
+51728e1ead2f21a3853c43a44c2c3a80c8c6c965	@DISEASE$ coli is common in children with symptomatic polyps, and is associated with @PHENOTYPICFEATURE$, right-colon polyps, and adenomas.	has_symptom
+46027bb9a6bce7ea5a7c3423b2ca35d6fce95e26	@PHENOTYPICFEATURE$ was more common in @DISEASE$ than MJP and SJP.	has_symptom
+dfbf86f37b039b1660c34fa0847eccaf901f2320	The AA present a case of a severe diffuse colorectal @DISEASE$ in an 8-year-old black child, with a 4-year evolution of serious digestive bleeding, abdominal pains, @PHENOTYPICFEATURE$ and hypoproteinemia.	has_symptom
+d28c465985d882c17a46c44a24f88215b1b6680e	@DISEASE$ (HCH) is a @PHENOTYPICFEATURE$ characterized by disproportionate short stature.	has_symptom
+82027352e27d630a3b8060bb6354067f5a0f9d69	@DISEASE$ (HCH) is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$.	false
+454e46a77620385d97c60673eff628fc2f534d31	Hypochondroplasia (HCH) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$.	false
+610e016d404c45691a4d4bbb50187ec2de7e65f8	@DISEASE$ is a @PHENOTYPICFEATURE$ characterised by poor childhood growth and an inadequate pubertal growth spurt.	has_symptom
+b6cab75865e60b191d166489f4d5e95b9cdabd42	@DISEASE$ (HCH) is a @PHENOTYPICFEATURE$ characterized by short stature with disproportionately short arms and legs.	has_symptom
+1d4f8c078d862e80807d143f19e5808adc828eb1	Hypochondroplasia (HCH) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ with disproportionately short arms and legs.	false
+8248e9a4257effbba55d1c93904d89dfcb9a1652	@DISEASE$ (HCH) is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$ with disproportionately short arms and legs.	false
+4f5b4c059ef00d38d5acccd9eee4b85e4ccec2ba	The conditions of generalized @PHENOTYPICFEATURE$, @DISEASE$ and achondroplasia, are reviewed.	has_symptom
+93365e69378c11febf3ca1ce83bfaf0fec72735d	@DISEASE$ (HCH) is a genetic @PHENOTYPICFEATURE$, inherited in an autosomal dominant fashion.	has_symptom
+f72891a09fa9501c01b88ac3ca4a3abb9378f8f8	Prenatal diagnosis of @PHENOTYPICFEATURE$ identified postnatally as @DISEASE$.	has_symptom
+8e65d0d8bac33985deb8d7b3796e78718b852f3b	Achondroplasia and @DISEASE$ are two of the most common forms of @PHENOTYPICFEATURE$.	has_symptom
+03029b2f9d3d982593c5552dca4876d25ab3d97a	@DISEASE$ (HCH) is a @PHENOTYPICFEATURE$ caused by an abnormal function of the fibroblast growth factor receptor 3.	has_symptom
+4882f4e677d1b50d54ec03891564434552f934fc	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ characterized by disproportionate short stature.	has_symptom
+8c170d7090e8c98c00db422325ae742701a00343	Hypochondroplasia is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$.	false
+38e449b348617887c29fb288ac05c83dc97489b1	@DISEASE$ is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$.	false
+777b7a9ad961a968744a358296b9cf8bf8f37915	@DISEASE$ (HCH) is a @PHENOTYPICFEATURE$, characterized by short stature and macrocephaly.	has_symptom
+021f140dd8c2852b4fa6a6f1790198af72b90d93	@DISEASE$ (HCH) is a skeletal dysplasia, characterized by short stature and @PHENOTYPICFEATURE$.	false
+defd7d9e06135b0ec325765d752a4e2e0b90f763	Hypochondroplasia (HCH) is a @DISEASE$, characterized by @PHENOTYPICFEATURE$ and macrocephaly.	false
+7af4dcc84955c2acaf6ea9336baa4667179e0594	@DISEASE$ (HCH) is a skeletal dysplasia, characterized by @PHENOTYPICFEATURE$ and macrocephaly.	false
+f65820ba59e3108eef758d821467b1e943b85c13	Hypochondroplasia (HCH) is a @DISEASE$, characterized by short stature and @PHENOTYPICFEATURE$.	false
+6b5612586035f4587cf87356ea700ec1f97d56ff	Dopamine-secreting adrenal @DISEASE$ presenting with paroxysmal @PHENOTYPICFEATURE$ attacks.	has_symptom
+d2cec32a55e9d7cbf34404b983a682eb2626a807	In conclusion, this is a case of dopamine-secreting adrenal @DISEASE$ associated with paroxysmal @PHENOTYPICFEATURE$ attacks in an adult patient.	has_symptom
+e6cd42b9d5719a1d16239fde3d50bde6fe6200fe	We report a case of dopamine-secreting adrenal @DISEASE$ associated with paroxysmal @PHENOTYPICFEATURE$ attacks in an adult patient.	has_symptom
+15954c28f4aca28eb26b4c9ebd582847736c7e12	An extensive evaluation for @DISEASE$ and @PHENOTYPICFEATURE$ was normal.	has_symptom
+445a19710b53c02ea8f5592c38796c94905c0217	A local or systemic @DISEASE$ allows @PHENOTYPICFEATURE$ outbreaks.	has_symptom
+8e8adf232e2165bbf4caec829d136b8229de5e82	Literary data are used to describe the types of @DISEASE$, association of malignant @PHENOTYPICFEATURE$ with immunodeficiency including acquired (AIDS).	has_symptom
+fe6c5c48bf5186db00418b14f5128b06743a4555	Literary data are used to describe the types of immunodeficiency, association of malignant @PHENOTYPICFEATURE$ with @DISEASE$ including acquired (AIDS).	has_symptom
+675ec57ce2e838cb5bf2286d988305ab183c2072	Human retroviruses: their role in @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+b291f8916178a20e74bb5ee9f6d0a414842ce73e	HIV @DISEASE$ promotes increase in frequency of such @PHENOTYPICFEATURE$.	has_symptom
+b6b6d47843155a8cfbd553e769004c11cd96da81	Defects in TAP account for @DISEASE$ and @PHENOTYPICFEATURE$ development.	has_symptom
+89b33cc8cecfcc8962317d136537fd2f77a81dc8	Autoimmune muscle disease associated with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+c8872cedea25f82dbc6d1ede0782baf6a8f1e875	VEGF as a mediator of @PHENOTYPICFEATURE$-associated @DISEASE$.	has_symptom
+9059909cb3029fc045c8a4a6f6b57a7e959072e9	Malignant solid @PHENOTYPICFEATURE$ associated with congenital @DISEASE$.	has_symptom
+6a54043fca91d64ffbec8cfd4c6508005189e900	Clinico-pathological characteristics of different types of @DISEASE$-associated smooth muscle @PHENOTYPICFEATURE$.	has_symptom
+c63f69e961147f48827e9c8abf541d796f03d16e	He had skeletal dysplasia with @DISEASE$ and episodes of @PHENOTYPICFEATURE$ with lactic acidosis.	has_symptom
+a4c7c01b27126fa3fd51d01177436202048e8aef	He had @PHENOTYPICFEATURE$ with metabolic bone disease and episodes of @DISEASE$ with lactic acidosis.	false
+11a17998afed42d7cfdbb0c3a2d95ae599c4ab23	He had @PHENOTYPICFEATURE$ with @DISEASE$ and episodes of hyperthermia with lactic acidosis.	false
+4ae8161bbe9bfa0362bb5cc45bd336bc6c97490f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, @PHENOTYPICFEATURE$, mental retardation, hepatosplenomegaly and coagulation disorders.	has_symptom
+78b5f9a9762a2b9f375da656a5d92ceb23fcec1f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+c812c584e88e6ad687d93cbfd35781cb26e9fe09	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @PHENOTYPICFEATURE$, seizures, mental retardation, hepatosplenomegaly and @DISEASE$.	false
+344fdc7a2531ffa6acf7f58c62c56c07a7dcb430	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+73b477e63a145b3ea131839b77ba9397d0949e70	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+6574668a3ff10928e3e5ccdd384639f0d1a36e43	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and @DISEASE$.	false
+3ac4ca19b85939219607a6349e98c9bea9ee201c	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, @PHENOTYPICFEATURE$, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+c0699a6f4086ebd42f6cfd1a9cfda32b0131425a	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and @DISEASE$.	false
+f66b702f5bd1dbbdb5e38ae223809ece2bcf2809	Pseudo-TORCH syndrome is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, intracranial calcification, @DISEASE$, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+6d718824cf5b8f84ef38968e20c6ea23b2f075f4	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as @PHENOTYPICFEATURE$, intracranial calcification, seizures, mental retardation, hepatosplenomegaly and coagulation disorders.	false
+24427cdb2985b71ed85188ea24aa077fb03417c9	The mechanistic basis of bilirubin excretion and @PHENOTYPICFEATURE$ syndromes is largely understood, but that of @DISEASE$, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics, has remained enigmatic.	has_symptom
+47f8aad1f829ef5e54e2eaecf537d556b69b8940	@PHENOTYPICFEATURE$ syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and @DISEASE$).	has_symptom
+24427cdb2985b71ed85188ea24aa077fb03417c9	The mechanistic basis of bilirubin excretion and @PHENOTYPICFEATURE$ syndromes is largely understood, but that of @DISEASE$, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics, has remained enigmatic.	has_symptom
+55ed76d4fcf70caf19538d8d16e9d90fc26b862f	[Surgical management of rheumatic valve disease complicated by congenital @PHENOTYPICFEATURE$ (@DISEASE$): a case report].	has_symptom
+21c828deef437febd69d96d51c548c191b7fdec5	Alpha-aminoadipic and alpha-ketoadipic aciduria is an @PHENOTYPICFEATURE$ inborn @DISEASE$ of lysine, hydroxylysine, and tryptophan degradation.	has_symptom
+95b8b45b882b1414f8e3bae0bd16eec8cb0b0e90	Phenylketonuria (PKU) is an @PHENOTYPICFEATURE$ inborn @DISEASE$ of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene.	has_symptom
+29db8e566c6b72ce8ad4b543d0ee9b0c7247ce4a	Congenital adrenal hyperplasia (CAH) is an @PHENOTYPICFEATURE$ disorder associated with inborn @DISEASE$ of steroid metabolism.	has_symptom
+cd4fcf78fd8ce0989c7fd915f3cadbc11807c166	@PHENOTYPICFEATURE$ (CAH) is an autosomal recessive disorder associated with inborn @DISEASE$ of steroid metabolism.	false
+f2ccc2d6f0f9d3b5678ddf36a246b74f81180698	@PHENOTYPICFEATURE$ (CAH) is an autosomal recessive @DISEASE$ associated with inborn errors of steroid metabolism.	false
+690ca247e82239ed13703985408e7de98f6e9903	@PHENOTYPICFEATURE$ (@DISEASE$) is an autosomal recessive disorder associated with inborn errors of steroid metabolism.	false
+544dd4fd55ccfc8367352b000c3fcdbbbfb2b7b3	@PHENOTYPICFEATURE$ (CAH) is an autosomal recessive disorder associated with @DISEASE$ errors of steroid metabolism.	false
+0a66348e3ea92c6eff5b8e4c075fb0b639fb330e	@PHENOTYPICFEATURE$ (CAH) is an @DISEASE$ disorder associated with inborn errors of steroid metabolism.	false
+83027e7d0bad97222f71ae4f23115da749f65110	Elevated serum very long chain fatty acids confirmed the diagnosis of @DISEASE$. Ophthalmologists should be aware of the diagnosis in boys with @PHENOTYPICFEATURE$, hyperactivity, behavioral changes, and deterioration in school performance.	has_symptom
+5136ff95eac7f072101e3c4bdab0b160257c5e26	@PHENOTYPICFEATURE$ may be the presenting or predominant feature in @DISEASE$.	has_symptom
+e15a491c3a1a8bcf36979b0096edcff3365328d9	Symptoms of @DISEASE$ are ataxia, @PHENOTYPICFEATURE$ and auditory functions, and cerebral convulsions.	has_symptom
+c88ad64682cb6d443ca4f4c570265aee0f0e8117	Symptoms of @DISEASE$ are @PHENOTYPICFEATURE$, loss of visual and auditory functions, and cerebral convulsions.	false
+6f6439224f073f3a3ea27cbec35075173e94ed65	Symptoms of ALD are @PHENOTYPICFEATURE$, @DISEASE$ and auditory functions, and cerebral convulsions.	false
+e15a491c3a1a8bcf36979b0096edcff3365328d9	Symptoms of @DISEASE$ are ataxia, @PHENOTYPICFEATURE$ and auditory functions, and cerebral convulsions.	has_symptom
+c88ad64682cb6d443ca4f4c570265aee0f0e8117	Symptoms of @DISEASE$ are @PHENOTYPICFEATURE$, loss of visual and auditory functions, and cerebral convulsions.	false
+6f6439224f073f3a3ea27cbec35075173e94ed65	Symptoms of ALD are @PHENOTYPICFEATURE$, @DISEASE$ and auditory functions, and cerebral convulsions.	false
+19d0991fe81b8d5c91cf74f477e02c83618f7a2a	The diagnosis of @DISEASE$ should be considered in all boys presenting with unexplained @PHENOTYPICFEATURE$, dementia, and adrenal dysfunction.	has_symptom
+43687b00c71cf65c50cf0c332c8afb4d0ba2727b	@PHENOTYPICFEATURE$ and anaemia are observed in about a fifth of all patients with @DISEASE$ (SLE) and may be due either to the destruction of blood cells or their decreased production.	has_symptom
+641bcab6f7222dc97978da76da40a51edad65b6e	@DISEASE$ is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and @PHENOTYPICFEATURE$.	has_symptom
+c736e4e21e8d9dedf3da30f5c3d539e93bbe75c0	[The @DISEASE$ with @PHENOTYPICFEATURE$].	has_symptom
+ba487d339138c55273e6bf18320703b179e0a035	@DISEASE$ patients with PCO on ultrasound present greater hyperandrogenism and @PHENOTYPICFEATURE$ than PCOS patients without PCO.	has_symptom
+3b03f2d50f88b2f6ea26effc3c1a809eb36875fc	PCOS patients with PCO on ultrasound present greater hyperandrogenism and @PHENOTYPICFEATURE$ than @DISEASE$ patients without PCO.	has_symptom
+134e76da62adfc47b92bff811cb2fb4abc0b3245	Polycystic ovarian syndrome (@DISEASE$) is a common endocrine disorder associated with @PHENOTYPICFEATURE$ and infertility.	has_symptom
+9c9fbe94de816b9c3a28682fa5ad05fc01aa7f7c	@DISEASE$ (PCOS) is a common endocrine disorder associated with @PHENOTYPICFEATURE$ and infertility.	has_symptom
+d0d98f0f2d027e4666e457247ada1f649abaa9bc	[Non-pharmacological therapy of @PHENOTYPICFEATURE$-type @DISEASE$].	has_symptom
+7b3ce26254508836fac67a4176ffb9b1fd02bfb1	MS and @PHENOTYPICFEATURE$ coexist commonly with @DISEASE$.	has_symptom
+927995f4b9e5d58e7b5ae1e86d438618ccf40b2d	@DISEASE$ (PCOS) is often associated with @PHENOTYPICFEATURE$ and diabetes.	has_symptom
+2e7184a10bb24390093affade36f275b3b6a267a	Polycystic ovarian syndrome (@DISEASE$) is often associated with @PHENOTYPICFEATURE$ and diabetes.	has_symptom
+1bd0522861738c04016b869739800fddf017638a	Development of @PHENOTYPICFEATURE$ and @DISEASE$ in adolescents.	has_symptom
+cefba82e4a5ddf565119525dfd2458445f174579	Polycystic ovary syndrome (@DISEASE$) is a disorder associated with insulin resistance and @PHENOTYPICFEATURE$.	has_symptom
+fa33af6a9f042ac815ea79f799f25513ec0643c1	@DISEASE$ (PCOS) is a disorder associated with insulin resistance and @PHENOTYPICFEATURE$.	has_symptom
+40dda53606bc33515e20e3fc8ff92f019db7fd38	[@DISEASE$ and @PHENOTYPICFEATURE$: non pharmacological approaches].	has_symptom
+647ad0daf219d60514d6fe4e7792586dc99ea9b0	Role of @PHENOTYPICFEATURE$ and adiposity in @DISEASE$.	has_symptom
+424c232929416377e7d2958f18e44024f111a888	Chronic @PHENOTYPICFEATURE$ can be debilitating in @DISEASE$.	has_symptom
+2976e4c7526414958c5ca62338794527f2194ece	We report a 52-year-old man who presented with severe chronic bilateral orbital @PHENOTYPICFEATURE$, and dysmorphic features characteristic of @DISEASE$.	has_symptom
+9555617c6a039aae6a4da2ef6cd2ce88c2734079	Prenatal overlap of feature of severe @DISEASE$ and Costello syndrome is confirmed, with dysmorphological similarities, due to @PHENOTYPICFEATURE$ of fetal skin in face and extremities.	has_symptom
+ef3d65fa46ac2e3f74f31bbd775df063eaaaf15c	Persistence of nuchal @PHENOTYPICFEATURE$ and distended jugular lymphatic sacs in @DISEASE$.	has_symptom
+62c3719c3ed64fd4ea1812447f70178f43659fa2	Here we report on a newborn with facial dysmorphism, @PHENOTYPICFEATURE$, spiky hair, congenital hypothyroidism and that are observed with @DISEASE$.	has_symptom
+0bf203355dea52e4479db605032a4e3e8c55767b	Here we report on a newborn with @PHENOTYPICFEATURE$, cleft palate, spiky hair, @DISEASE$ and that are observed with Bamforth syndrome.	false
+a4290009dd09ff09bd24d14c7b70b66b681b1da2	Here we report on a newborn with @PHENOTYPICFEATURE$, cleft palate, spiky hair, congenital hypothyroidism and that are observed with @DISEASE$.	false
+9acc91d0815eaee6b88dd98c0c7de1053f952f36	Here we report on a newborn with @PHENOTYPICFEATURE$, @DISEASE$, spiky hair, congenital hypothyroidism and that are observed with Bamforth syndrome.	false
+e35ea23191d5dcce16ff98de511f3cc49ae0185e	In humans, mutations of the gene encoding for thyroid transcription factor-2 (TTF-2) result in the @DISEASE$, characterized by thyroid agenesis, @PHENOTYPICFEATURE$, spiky hair, and choanal atresia.	has_symptom
+07a67241fd7176229b830f18bec55ee5f735c423	Homozygous loss-of-function mutations in the FOXE1 gene have been reported in several patients with partial or complete @DISEASE$: congenital hypothyroidism (CH) with thyroid dysgenesis (usually athyreosis), @PHENOTYPICFEATURE$, spiky hair, with or without choanal atresia, and bifid epiglottis.	has_symptom
+de6de45a1a6c095fb11fe7f4f057d854f6c7e08f	@DISEASE$ is characterized by agenesis, @PHENOTYPICFEATURE$, spiky hair and choanal atresia.	has_symptom
+a2e714f0edfaa82b168c9906fb38a7084f140771	We pointed to: (i) a role of FOXE1 in controlling the expression of MSX1 and TGF-?3 relevant in craniofacial development and (ii) a causative part of FOXE1 mutations or mice Foxe1(-/-) genotype in the pathogenesis of @PHENOTYPICFEATURE$ in the @DISEASE$.	has_symptom
+0954ce1a7cb36a061a93c5ddadd30059abd9995d	Forkhead transcription factor (Fox) e1 is a causative gene for @DISEASE$, which is characterized by hypothyroidism and @PHENOTYPICFEATURE$.	has_symptom
+3957691477b2757598794f9c8d50a5cf9b3f0814	@DISEASE$ is a rare inherited condition whose main features are congenital hypothyroidism due to thyroid dysplasia, @PHENOTYPICFEATURE$, and spiky hair, with or without choanal atresia and bifid epiglottis.	has_symptom
+f7560aaf0c7b3021f7eb16c79170f21dfda42590	All patients were between 3 and 7 months of age with a triad of neurodevelopmental regression, nystagmus and @PHENOTYPICFEATURE$ and @DISEASE$.	has_symptom
+1c2d62bae1afbc95ba02073dcb2dab7fdb457b0b	The 29-year-old Sepharadi Jewish male had infantile-onset @PHENOTYPICFEATURE$ with clinically asymptomatic @DISEASE$ involving periventricular white matter.	has_symptom
+9b75e537123b1caafea55ab6c1eaf0c186b27218	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @PHENOTYPICFEATURE$, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	has_symptom
+013e71b11ceff1819c56e4afb76d0f6ad25a476c	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	false
+da00efb895bf1ae0bdf1c053eb24e19f67ef3593	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, @DISEASE$, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+542c5be3be2277ac767c680917c6691b6769b48f	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), @DISEASE$, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+d5721c4644937607ad5fa846af2e8a53f91bd108	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse @DISEASE$ on magnetic resonance imaging (MRI).	false
+0941f4b978dc4cd1a05039fd204af305224c94bc	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, @DISEASE$, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+8386419200b22b722adbd8159560625fc915d679	@DISEASE$ is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+6aeae2ad7bdb8bef476db17e301420d726b3578f	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, @DISEASE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+95e46e4192f4d8e94643f9c680a0f41fd897457a	@DISEASE$ is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+5c87c4f73358666830c48d0535ad526096b20e42	PMLD is characterized by early-onset nystagmus, delayed development (motor @PHENOTYPICFEATURE$ delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, @DISEASE$, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+415e04f34100b990f91d0e8be4f7da206791618a	PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), @DISEASE$, hypotonia typically evolving into spasticity, ataxia, @PHENOTYPICFEATURE$, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI).	false
+717b082d57092b21be7c8a2cc5ce8d4a9df8a588	Additional features include @DISEASE$, cardiomyopathy and @PHENOTYPICFEATURE$.	has_symptom
+087d3ff6a72377275fe4f41fe27648f6b9e5436d	Underlying medical and ocular conditions were as follows: upper eyelid hemangioma with oblique myopic astigmatism, Pelizaeus-Merzbacher @DISEASE$ with nystagmus, Klippel-Trenaunay-Weber syndrome with glaucoma, incontinentia pigmenti with unilateral @PHENOTYPICFEATURE$, and Goldenhar syndrome with unilateral optic nerve hypoplasia.	has_symptom
+cc9fb77f46a04b62c3f8d3987771bcea2d91c642	The genetic basis of a novel congenital @DISEASE$, associated with early onset spastic paraparesis, acquired microcephaly and @PHENOTYPICFEATURE$ was studied in six patients from three unrelated Ashkenazi-Jewish families.	has_symptom
+e6c991eac5298333503ba6fb7f4f668fccf1aca3	Globoid @DISEASE$ (Krabbe's disease) was diagnosed in an infant in whom a progressive neurological disorder and @PHENOTYPICFEATURE$ developed.	has_symptom
+08ea8ad5aac53e5190750c5553a9e6c5907d6103	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, intellectual disability, hypotonia, scoliosis, @PHENOTYPICFEATURE$, hypertelorism and renal dysfunction.	has_symptom
+f5cad8f898d71f6d4eb5a0f4f10b40342bf67c4a	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+54eaaabecc4966630e1c57b2b23751567375b64b	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, scoliosis, @DISEASE$, hypertelorism and renal dysfunction.	false
+c7413567d1597b152a2178f3e121d30680015502	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, intellectual disability, hypotonia, @DISEASE$, macrocephaly, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+da6610db5643a69f7c3f98b91a9fe043533d9ac9	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+897385826c5d5bcff67b2c00feec0ccdc3003f08	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+97f6a8a13a3a363db64489a25dd492a38c85c1c9	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, intellectual disability, hypotonia, scoliosis, @DISEASE$, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+288df6101cbf7ee1a522597ad87e82113abf680f	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, @DISEASE$, macrocephaly, hypertelorism and renal dysfunction.	false
+91182bf0cb9fc0a21d16f13f9b31280222f2191e	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, macrocephaly, hypertelorism and renal dysfunction.	false
+eb4c30d0c01bff94530e9b68881aa3448bbaba64	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as seizures-scoliosis-macrocephaly syndrome, characterised by @PHENOTYPICFEATURE$, intellectual disability, hypotonia, scoliosis, @DISEASE$, hypertelorism and renal dysfunction.	false
+8bacf976d5e0e3ea50ca8a2a29d54af7f3d7b52f	@DISEASE$ (NS) is a genetic disorder caused by @PHENOTYPICFEATURE$ and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease.	has_symptom
+edc873a1fecc50e46ad67b129fe9f2bf4ae59688	Noonan syndrome (NS) is a genetic disorder caused by @DISEASE$ and is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, chest deformity, and congenital heart disease.	false
+f167f0e5b9febdfdbfefba5c62ed3bc7a2554ac0	@DISEASE$ (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, chest deformity, and congenital heart disease.	false
+af3d8df3caf4bcb430453623210b4362949393cc	Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, chest deformity, and @DISEASE$.	false
+374d9808a70ea93e36a10cb3eae3e82c27d3b53a	Noonan syndrome (NS) is a @DISEASE$ caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, chest deformity, and congenital heart disease.	false
+35bd409793be91d1889c987bfdf3e303bc853808	A formerly healthy man was admitted for bone pain, @PHENOTYPICFEATURE$, and jaundice with severe @DISEASE$.	has_symptom
+68f8f71c7ac8bbf6a064cc460c11725fbf11ec95	2 gene mutation can present with myoclonic epilepsy, @PHENOTYPICFEATURE$, and pyramidal and extrapyramidal features, and is an important differential for causes of @DISEASE$.	has_symptom
+e05c61c8d93365e7a10268cb75e545d765f68a69	Autosomal recessive @DISEASE$ with ataxia and @PHENOTYPICFEATURE$.	has_symptom
+17cc9bfde30b61a229c71845ed17843e1cdd9b73	Autosomal recessive @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+61e18df59311fe1e91489d63f38a433304003879	Autosomal recessive progressive myoclonus epilepsy with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4aadf9368e2efa2dc4781ecd9d7acb62a79f5b97	A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes @DISEASE$ and ataxia, and a nonsense variant is associated with @PHENOTYPICFEATURE$.	has_symptom
+1da3208cd872abf5791b32ebae38e1f14e088678	A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and @PHENOTYPICFEATURE$, and a nonsense variant is associated with @DISEASE$.	false
+61fd769d5f35d9246f2ed24c4679cfa21d6c85cc	A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes @DISEASE$ and @PHENOTYPICFEATURE$, and a nonsense variant is associated with intellectual disability.	false
+1483d64f88960a442f1333495015a7470056775a	Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as @DISEASE$ syndrome, which consists of @PHENOTYPICFEATURE$, dementia, and cerebellar ataxia as well as epilepsy and myoclonus.	has_symptom
+3f45dd0f8b3fdd95a9a6be16145efbb6df0cb2a1	Older onset patients suffer from @PHENOTYPICFEATURE$ with or without dementia, whereas younger onset patients present as @DISEASE$ syndrome, which consists of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus.	false
+4f092d546f2f246a2bf8359b79dfc3812ce939a7	Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of @DISEASE$, dementia, and @PHENOTYPICFEATURE$ as well as epilepsy and myoclonus.	false
+cde8292132bc58a4f3d2698f24b36f279bf21491	Older onset patients suffer from @PHENOTYPICFEATURE$ with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of @DISEASE$, dementia, and cerebellar ataxia as well as epilepsy and myoclonus.	false
+9a294471d5c0b9524878060a776d1674e192473e	Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as @DISEASE$ syndrome, which consists of mental retardation, dementia, and @PHENOTYPICFEATURE$ as well as epilepsy and myoclonus.	false
+c2a7226410e70966d12b813ddf583c0dc44a0c47	A 28-year-old male of @DISEASE$ was reported, who had showed a gradual progression in myoclonus, @PHENOTYPICFEATURE$ and cerebellar symptoms, and had been treated with a large dosage of diphenylhydantoin.	has_symptom
+c359f9c9df31ba12a6d08c48ead4d99b5fac9a89	@DISEASE$ with @PHENOTYPICFEATURE$ and renal failure.	has_symptom
+5c69b836293c4c9467c400ec411a685a41555011	Klippel-Feil syndrome with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bdf345fe54d88688d92d4e4726fb36ed2fc4afa0	@DISEASE$ with unilateral renal agenesis and @PHENOTYPICFEATURE$.	false
+9b9f6523e4543dc8319770146b8043f00e3db7e0	Acid sphingomyelinase knockout mice (ASMko) are a suitable model to address the role of sphingolipids in synaptic regulation as they recapitulate a @PHENOTYPICFEATURE$ syndrome, @DISEASE$ (NPA), and their neurons have altered levels of sphingomyelin (SM) and its derivatives.	has_symptom
+ac7b820875d7248e37650f4ce4d401563c8830c2	Underlying diseases including pituitary apoplexy, @DISEASE$, craniopharyngioma, and idiopathic @PHENOTYPICFEATURE$ were associated with PRL deficiency.	has_symptom
+2656329d0cfee38b943b909e6125d57364d58dc7	We conclude that recessive @DISEASE$ is a variant of CHH, manifesting only as short stature and @PHENOTYPICFEATURE$.	has_symptom
+085c3d07826a608847052dc4180667b049d6e187	We conclude that recessive @DISEASE$ is a variant of CHH, manifesting only as @PHENOTYPICFEATURE$ and metaphyseal dysplasia.	false
+15f4b1a24d0df4c37db226a2310714360d1df1c0	We conclude that recessive metaphyseal dysplasia without hypotrichosis is a variant of CHH, manifesting only as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9fa980583be230997a147e1803bcd5888ad9f7d4	@DISEASE$ is hypermobility associated with symptoms--@PHENOTYPICFEATURE$, myalgia, fatigue, anxiety and fibromyalgia.	has_symptom
+8e5792d7c558782dce5dfb7ca560b0e35f941700	@PHENOTYPICFEATURE$ in @DISEASE$ (congenital absence of hypoplasia of the thymus).	has_symptom
+6e677524e76ec70b1d4235a74b9943c46f2fa632	To investigate the role of FAK in NCC morphogenesis, we deleted it in murine NCCs using Wnt1cre, yielding craniofacial and @PHENOTYPICFEATURE$ resembling those observed in individuals with @DISEASE$.	has_symptom
+bb5a2d8edd42e4821962f37754f86f8da3cefa27	The @DISEASE$ syndrome is characterized anatomically by predominantly frontoparietal diffuse polymicrogyria and clinically by generalized tonic-clonic seizures and @PHENOTYPICFEATURE$ developing in early childhood.	has_symptom
+1ad443a5d5d2a3e233f7f30fb35973d5d8789cdc	The @DISEASE$ syndrome is characterized anatomically by predominantly frontoparietal diffuse polymicrogyria and clinically by @PHENOTYPICFEATURE$ and mental retardation developing in early childhood.	false
+790d5499b575a96e265435be9aaedc4d80153f6f	The bilateral frontoparietal polymicrogyria syndrome is characterized anatomically by predominantly frontoparietal diffuse polymicrogyria and clinically by @PHENOTYPICFEATURE$ and @DISEASE$ developing in early childhood.	false
+ac30a28275cb72442863c2b07ff5b1f278b8fbb1	The bilateral frontoparietal polymicrogyria @DISEASE$ is characterized anatomically by predominantly frontoparietal diffuse polymicrogyria and clinically by @PHENOTYPICFEATURE$ and mental retardation developing in early childhood.	false
+082fced2219d3eeb8eb492845394fb88fe49ad91	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, @PHENOTYPICFEATURE$, renal and genital anomalies.	has_symptom
+858976508bac9421dc345a286155bc4eccc37deb	BBS-6 comprises retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, @DISEASE$, renal and genital anomalies.	false
+23baaa0336cba4013556cdb2cf436ad6a4097587	BBS-6 comprises @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, mental retardation, renal and genital anomalies.	false
+4448fc42ceac7bdfaff5b3bc9eec769c57a9faca	BBS-6 comprises retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, @DISEASE$, renal and genital anomalies.	false
+f0b85665ae76a38d483f9ba7acf5b1b73c0091b1	@DISEASE$ comprises retinitis pigmentosa, @PHENOTYPICFEATURE$, obesity, mental retardation, renal and genital anomalies.	false
+a8f5361e5047391ca8d931ce1a872c6dd82eb51c	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+102d7e02692cc209e9a8b37986ff33d926769dc7	BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, @DISEASE$, renal and @PHENOTYPICFEATURE$.	false
+b91914ff8443eab988c13264c475b7f874ad1413	BBS-6 comprises @DISEASE$, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+36d2dd897b9e4212ab28cafb31df6abe4c96a000	BBS-6 comprises @DISEASE$, @PHENOTYPICFEATURE$, obesity, mental retardation, renal and genital anomalies.	false
+1361194bbeb8819f6e53e4bce21025973d7a8e0e	@DISEASE$ comprises retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, mental retardation, renal and genital anomalies.	false
+823dff31399f8ee2b6cd0a25e0e84c18634e8e0a	@DISEASE$ (OPD2) is an uncommon X-linked condition characterized by dysmorphic facies, a @PHENOTYPICFEATURE$ affecting the axial and appendicular skeleton and extraskeletal anomalies including malformations of the brain, heart, genitourinary system, and intestines.	has_symptom
+a1884f470bef8588d5a297beaa6453736cd9a160	The dose and duration of L-thyroxine treatment was sufficient to induce a significant degree of @DISEASE$ with accompanying tachycardia, systolic blood pressure elevation, increased pulse pressure, cardiac hypertrophy, @PHENOTYPICFEATURE$, tachypnea and hyperthermia.	has_symptom
+663d1944d17d4daec0c6edddcd2757f188295fd5	The myoclonus was preceded by symptoms of @DISEASE$, namely @PHENOTYPICFEATURE$, menstrual disturbances, and heat intolerance.	has_symptom
+45947d3688e401b0fa603bdb039fcee4b594c3b6	In addition, symptoms of @DISEASE$ (anxiety, @PHENOTYPICFEATURE$, hyperdefecation) were noticeable.	has_symptom
+b2098c524c44c1c7b4598bb6d05ad80c1e43cddf	To identify the molecular defect by which non-autoimmune subclinical @DISEASE$ was caused in a 6-mo-old infant who presented with @PHENOTYPICFEATURE$.	has_symptom
+a337d7482302c9f2d169d8696f85b6a3f5b5696c	In spite of a laboratory pattern of @DISEASE$ and positivity to TRAb, he showed only considerable @PHENOTYPICFEATURE$, and no therapy was required.	has_symptom
+a66812efebbbd759710038a5529be39ad4c75674	A 12-year-old neutered male domestic shorthair cat presented for chronic, localized, swelling and crusting of the left upper lip, @PHENOTYPICFEATURE$, sporadic vomiting, and focal alopecia between the scapulae was diagnosed with @DISEASE$ and regional eosinophilic lymphadenitis.	has_symptom
+f9fa1977966880c4296d5e8874bb7c1f03f78eae	A 12-year-old neutered male domestic shorthair cat presented for chronic, localized, swelling and crusting of the left upper lip, weight loss, sporadic @PHENOTYPICFEATURE$, and focal alopecia between the scapulae was diagnosed with @DISEASE$ and regional eosinophilic lymphadenitis.	false
+e51589061fb00d5031037c82af4d5b22c9abc613	A 12-year-old neutered male domestic shorthair cat presented for chronic, localized, swelling and crusting of the left upper lip, @DISEASE$, sporadic @PHENOTYPICFEATURE$, and focal alopecia between the scapulae was diagnosed with hyperthyroidism and regional eosinophilic lymphadenitis.	false
+60d9ef7921fb975e163c2deeda36bbea71bad7a6	Most often occur atrial fibrillation, worsening of cardiac failure and angina pectoris, @PHENOTYPICFEATURE$, anorexia, constipation, cognitive impairment and delirium.Delay of diagnosis and treatment of @DISEASE$ may be potentially harmful to the patient.	has_symptom
+e713a861c521e19fadb62d6af8c685a44efccd7e	Most often occur atrial fibrillation, worsening of @PHENOTYPICFEATURE$ and angina pectoris, @DISEASE$, anorexia, constipation, cognitive impairment and delirium.Delay of diagnosis and treatment of hyperthyroidism may be potentially harmful to the patient.	false
+202bc3727396771adc344a25ece6481ac8427ba0	Most often occur atrial fibrillation, worsening of @PHENOTYPICFEATURE$ and angina pectoris, weight loss, anorexia, constipation, cognitive impairment and delirium.Delay of diagnosis and treatment of @DISEASE$ may be potentially harmful to the patient.	false
+2d95c791a25a9a7469fa93ca896b83749aba3314	Tachycardia, @PHENOTYPICFEATURE$, sleep disturbances and increasing nervosity led to the diagnosis of concomitant @DISEASE$.	has_symptom
+4801ee3d3e386b8d0b02d69287e41fc03e596d2f	Tachycardia, weight loss, @PHENOTYPICFEATURE$ and increasing nervosity led to the diagnosis of concomitant @DISEASE$.	false
+f6dbae0ebd09bdf6e9c42b16ae2cdb9caa2c97a9	Tachycardia, @DISEASE$, @PHENOTYPICFEATURE$ and increasing nervosity led to the diagnosis of concomitant hyperthyroidism.	false
+7614dbc8a7e652ffe5048f31e24528e999214b87	The involvement of the peripheral nervous system was found in 25%-45% of patients with @DISEASE$, although limited data are available concerning polyneuropathy in patients with DM2, which was the aim of this study with a thorough presentation of the cases with @PHENOTYPICFEATURE$.	has_symptom
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	has_symptom
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+0d01d022bc2cd7d44f7fded9bd81805a92a54a48	The involvement of peripheral nerves in @DISEASE$ (DM1) is controversial and the features of @PHENOTYPICFEATURE$ (PN) are not well known.	has_symptom
+504a301c0f8495748a410d401ede2a2a072be9aa	To assess the frequency and type of @PHENOTYPICFEATURE$ (PNP) in patients with @DISEASE$ (DM1), as well as to identify factors that may be associated with this abnormality.	has_symptom
+2dc19fe6944df4cc29703c5301dfe321f892e0e4	The patients were grouped for analysis in 5-year intervals, 1975 to 1979, 1980 to 1984, 1985 to 1989, and 1990 to 1994, for the following diagnoses: FSGS, membranous nephropathy (MN), minimal change nephropathy (MCN), @DISEASE$ (MPGN), immunoglobulin A (IgA) nephropathy, chronic glomerulonephritis, diabetic nephropathy, @PHENOTYPICFEATURE$ nephrosclerosis, and chronic interstitial nephritis.	has_symptom
+4e87b49f31789f2dffac5f31647cbf819a7431ed	@DISEASE$, better known as CADASIL, is a rare, genetic form of early-onset vascular @PHENOTYPICFEATURE$.	has_symptom
+6c10851ae5c581a386d4acd40321a6607bae678a	@DISEASE$' (CADASIL) is an autosomal dominant inherited arteriopathy leading to brain infarcts and @PHENOTYPICFEATURE$ at middle age with extensive cerebral white matter changes on MRI.	has_symptom
+d12d077d61863235f6f6e9e8a9a3eff3101372e1	We set up and evaluated a telemedicine service for patients with a genetic form of stroke and @PHENOTYPICFEATURE$ @DISEASE$.	has_symptom
+f5578b210b6a4706cf55dfae99502e33a77abf30	@DISEASE$ (CADASIL) is a rare disease that leads to migraine, mood disorders, recurrent lacunar strokes and early vascular @PHENOTYPICFEATURE$.	has_symptom
+e387a61baccf54c603e8eb0042822fe49c2f125b	In addition, inappropriate buildup of Notch3 ectodomain is a hallmark pathological feature of the stroke and @PHENOTYPICFEATURE$ disorder @DISEASE$ (CADASIL).	has_symptom
+5d08cf500fd9f3abd7a079c25c249db8d654b2f4	@DISEASE$ (CADASIL) is the most common heritable form of vascular @PHENOTYPICFEATURE$ and it is caused by mutations in the NOTCH3 gene.	has_symptom
+7e31211e51464128461181236c31f4df2cc1706c	We report a sporadic case of Lenz-Majewski syndrome (@DISEASE$) with newly recognized manifestations including facial palsy, @PHENOTYPICFEATURE$ and hydrocephalus developing later in infancy.	has_symptom
+b2c80160d163abd710c2717701d7eaa8ec4cf02e	We report a sporadic case of Lenz-@DISEASE$ (LMS) with newly recognized manifestations including facial palsy, cleft palate and @PHENOTYPICFEATURE$ developing later in infancy.	false
+f6b36f07019ce5e2ae567ebc39ce3a06c77f91cd	We report a sporadic case of Lenz-Majewski syndrome (@DISEASE$) with newly recognized manifestations including facial palsy, cleft palate and @PHENOTYPICFEATURE$ developing later in infancy.	false
+9529b6be28bf5ec87a0d870743b5026d4f22277b	We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, @DISEASE$ and @PHENOTYPICFEATURE$ developing later in infancy.	false
+2e386bb86a81871a9924d01c9b6d1cc0d4ab95dc	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @PHENOTYPICFEATURE$/bifid uvula, hypodontia was reported.	has_symptom
+aeff617ef0652f7f2c69496bfe8def29ea719890	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+031727e2e6e6ee90ae7cf67e8d7cab1cf0a017c7	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+75830bac25e6cb2c20dc406ef2c0b0f95ef697d7	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @DISEASE$/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+4141d0310e20d85f0dee2b1c7855d6fe803ce574	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, @DISEASE$, cleft palate/bifid uvula, hypodontia was reported.	false
+b324ac672a790aa91e936164896e72a68bba5cf4	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+d27b7ad0051fe054e88a3b5f303dace595e57037	In 1996 a large Dutch family with an autosomal-dominant syndrome ("@DISEASE$", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+b283531dd980c4331fefe3552eb77eff8d19e55f	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, cleft palate/bifid uvula, hypodontia was reported.	false
+ff74fdcf151e5a80b21d65ebd29dc17c186bdf14	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, @DISEASE$/bifid uvula, hypodontia was reported.	false
+2a93a08e652356ec4cca785a6031df82e09caab8	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, @DISEASE$, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+892905d4158c9753f825cee298a6172093ca6b05	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, @PHENOTYPICFEATURE$, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, hypodontia was reported.	false
+dd7a7992fb6f4ea3a10d96f1d543c07776109286	In 1996 a large Dutch family with an autosomal-dominant @DISEASE$ ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, nail dysplasia, hypohidrosis, cleft palate/bifid uvula, @PHENOTYPICFEATURE$ was reported.	false
+09816c69ed486c0025fe1c33aa1ccdcae8881f5e	In 1996 a large Dutch family with an autosomal-dominant syndrome ("limb mammary syndrome", LMS, MIM *603543) characterized by hypoplasia/aplasia of mammary glands and nipples, ectrodactyly, other hand/foot anomalies, lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohidrosis, @DISEASE$/bifid uvula, hypodontia was reported.	false
+09737c1ea5e979d5a9ff5c50419a5eb008aa7dc2	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition @DISEASE$ (LMS), which is characterized by ectrodactyly, @PHENOTYPICFEATURE$, and mammary-gland abnormalities.	has_symptom
+a45a016014faadbc57b8f6c485868547b8234406	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (@DISEASE$), which is characterized by ectrodactyly, @PHENOTYPICFEATURE$, and mammary-gland abnormalities.	has_symptom
+5e839a3c641ac27e1450965028b43f4d5c9e6a0f	We performed p63 mutation analysis in a sample of 43 individuals and families affected with @DISEASE$, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+5436216c39aeae941e6daa61578bc8cafe234c19	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (@DISEASE$), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+311e712bbe0a8b913734f32759ce3d4a6f51e634	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition @DISEASE$ (LMS), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+69ba7bbca56ecb73360c9beb0cdfc3dbea5806d0	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the @DISEASE$-like condition limb-mammary syndrome (LMS), which is characterized by @PHENOTYPICFEATURE$, cleft palate, and mammary-gland abnormalities.	false
+38b281e0a38cd15ab893a3ea98d6d1fa7135f891	We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and mammary-gland abnormalities.	false
+94e189798b5639566f6e4265b69df23aa700bf61	The case of a 39-year-old woman with @DISEASE$, hypertension and severe @PHENOTYPICFEATURE$, caused by a unilateral adrenal adenoma composed of cells of the zona fasciculata histological type, is described.	has_symptom
+26647ee011592a5dd5ffc141b6262c3458215677	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, @DISEASE$, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, @PHENOTYPICFEATURE$ and achlorydria syndrome.	has_symptom
+b11ee194623584535afa11ae9fbf5743b3bfe823	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced @DISEASE$, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+34910af03b7da3cd07d5f6b4f7ca2d17ecd61be7	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria @DISEASE$.	false
+2b078a84faad23991bd2955cae630396eb9e77f6	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic @DISEASE$, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+69f8c8bdae3a11398ee138e5ec818c9a6160da69	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery @DISEASE$, hypokalemia and achlorydria syndrome.	false
+f9c898287545382dbc675d305368303112982864	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation @DISEASE$, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+92528268ed0f0f36139083761165e81d99254b9a	For these reasons, healthcare professionals should familiarize themselves with tumor-induced @DISEASE$, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+f5e60a351bcfc5df7dad2bb9711d96a0dda4f574	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, @DISEASE$, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+7d8ab1faf80def631f47d4c6e60be384a5fbdcb6	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, @DISEASE$ and achlorydria syndrome.	false
+fd4b0560dad30a3e378ae41b9deb447c334fefb9	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, @DISEASE$, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+e60264e761c319bd5e53bbb4cd6b160d9e244c63	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation @DISEASE$, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+427ec0d3112986a94c9082d79d44f415820af9dd	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery @DISEASE$, hypokalemia and achlorydria syndrome.	false
+346e38c6a6311d0fd1ac18d1b683c07d05814166	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria @DISEASE$.	false
+05025c1d58acc1fec30ee0f0ae0a45bf033c04ec	For these reasons, healthcare professionals should familiarize themselves with tumor-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic @DISEASE$, @PHENOTYPICFEATURE$-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+431fee79b39a3c6638c7614aedbe9d2529ff39c2	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, @DISEASE$ and achlorydria syndrome.	false
+2fd709f3feed49d8950b2c64d5c1f26db1db3941	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced hypercalcemia, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, tumor-induced @DISEASE$, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+9c069a1e776e90a2dc338fb5819dfbb6abbc437d	For these reasons, healthcare professionals should familiarize themselves with @PHENOTYPICFEATURE$-induced @DISEASE$, syndrome of inappropriate antidiuretic hormone, carcinoid syndrome, virilisation syndrome, gynecomastia, acromegaly, Cushing syndrome, osteogenic osteomalacia, tumor-induced hypoglycemia, necrolytic migratory erythema, and watery diarrhea, hypokalemia and achlorydria syndrome.	false
+4da98618016f765ea69ad7e52d0832396ad9cfd1	A history of episodic edema and @PHENOTYPICFEATURE$, often attributed in women to surreptitious diuretic abuse, requires a careful search for hypercorticism even in the absence of clinical @DISEASE$.	has_symptom
+7973cb82eb39c0de44a335c2e2139ce13cd2ffd3	A history of episodic @PHENOTYPICFEATURE$ and @DISEASE$, often attributed in women to surreptitious diuretic abuse, requires a careful search for hypercorticism even in the absence of clinical Cushing's syndrome.	false
+79db9a53216ed1f497fd7b5f82fef6cca7880770	A history of episodic @PHENOTYPICFEATURE$ and hypokalemia, often attributed in women to surreptitious diuretic abuse, requires a careful search for hypercorticism even in the absence of clinical @DISEASE$.	false
+5e20d200ebae62c0bd1dbb70f3c2c2465620a208	@PHENOTYPICFEATURE$ was much more prevalent than in patients with other causes of @DISEASE$, affecting 33 of 58 (57%) patients.	has_symptom
+701a53058ef320fcbb6b1f3672b66e1a9b426641	Recent-onset hypertension, spontaneous @PHENOTYPICFEATURE$, and diabetes mellitus suggested severe @DISEASE$ as the underlying disease.	has_symptom
+9ab3d5e7b88dc10d2a6ee093f1a5449031534040	This is a very rare case of periodic @PHENOTYPICFEATURE$ and hypertension caused by cyclic @DISEASE$.	has_symptom
+847ba19bf59a71861ea463d5ba577691e75189ed	Ectopic adrenocorticotropic hormone production by small-cell lung cancer is one rare cause of @DISEASE$, and may be associated with significant @PHENOTYPICFEATURE$.	has_symptom
+517538191d14beb8459dc4b0352eabd35232aa3a	The syndrome of functioning adrenocortical tumors includes @DISEASE$, primary aldosteronism and the adrenorge genital syndrome, of which a minority presents most of the specific clinical features: Cushing's syndrome; red face, typical moon face, truncal obesity, and purplisch red striae, primary aldosteronism; muscle weakness, noctural polyuria, hypertension and @PHENOTYPICFEATURE$, adrenogenital syndrome; virilization or feminization, but many of them present complete clinical picture.	has_symptom
+8ed9bbe2ed3692f96e3b72654256e09b831c7635	As in previously reported cases, most had @PHENOTYPICFEATURE$ and abdominal pain with minimal or no peritoneal symptoms and this occurred during the active phase of @DISEASE$.	has_symptom
+41f038f893e02eadc695e06ff50a403fdb45660a	As in previously reported cases, most had @DISEASE$ and @PHENOTYPICFEATURE$ with minimal or no peritoneal symptoms and this occurred during the active phase of Cushing's syndrome.	false
+8449fd7fa4392c19d9f4e2836066eeca6eb370c4	As in previously reported cases, most had hypokalemia and @PHENOTYPICFEATURE$ with minimal or no peritoneal symptoms and this occurred during the active phase of @DISEASE$.	false
+37ae43eec69fcf5ccca18723420ce50035d410b7	We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (@DISEASE$) with early @PHENOTYPICFEATURE$.	has_symptom
+8a2d1d313aeac500c3d2ac181a1270905ec89198	We studied a consanguineous Palestinian Arab family segregating an autosomal recessive @DISEASE$ (PME) with early @PHENOTYPICFEATURE$.	has_symptom
+b7c2de5d2e87074af8ce047c44a0bb51435c25c6	To identify the myoclonus source, using various neurophysiological techniques, in 5 patients with @DISEASE$/@PHENOTYPICFEATURE$.	has_symptom
+ed5a128ecfa360b767171cdd17024887f934d596	Mutation of the nuclear lamin gene LMNB2 in @DISEASE$ with early @PHENOTYPICFEATURE$.	has_symptom
+8c9bf9505d500614cc7504b06f1f79e75b6bef4f	A mutation in the Golgi Qb-SNARE gene GOSR2 causes @DISEASE$ with early @PHENOTYPICFEATURE$.	has_symptom
+17cc9bfde30b61a229c71845ed17843e1cdd9b73	Autosomal recessive @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	has_symptom
+c4f327e3f86cd23b6e4de0defd5746b5565bdbda	Autosomal recessive progressive myoclonus epilepsy with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e05c61c8d93365e7a10268cb75e545d765f68a69	Autosomal recessive @DISEASE$ with ataxia and @PHENOTYPICFEATURE$.	false
+b73822a2c2a8ba32a3ad34225db5b2778b9c6bd1	The clinical features of LINCLs include visual loss and @DISEASE$ (PME) characterized by myoclonus, seizures, @PHENOTYPICFEATURE$, and both mental and motor deterioration.	has_symptom
+3170daa016b8b4df3b7fe5fc065cbace81a4db29	The clinical features of LINCLs include visual loss and progressive myoclonus epilepsy (@DISEASE$) characterized by myoclonus, seizures, @PHENOTYPICFEATURE$, and both mental and motor deterioration.	has_symptom
+6a0eb41dd96d5dce3343c9da6750170d29f9ea41	The clinical features of LINCLs include @PHENOTYPICFEATURE$ and @DISEASE$ (PME) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration.	false
+ddb0b1c7453a904107e4f10dcbaf0c2655573e53	The clinical features of LINCLs include @PHENOTYPICFEATURE$ and progressive myoclonus epilepsy (@DISEASE$) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration.	false
+c8c72cc40e09f1997423ac0b5f3d005810348fcd	The clinical features of LINCLs include @PHENOTYPICFEATURE$ and progressive myoclonus epilepsy (PME) characterized by myoclonus, seizures, @DISEASE$, and both mental and motor deterioration.	false
+ec575a5acb9bdcf582fa3b25a63d0494c7f23dd9	A controlled trial of 5-hydroxy-L-tryptophan for @PHENOTYPICFEATURE$ in @DISEASE$.	has_symptom
+7360e9c9c3556e9c3790fcea6c33f3ed39a52508	Three phenotypes are described: choreoathetoid movements, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+aa23c04d20b59413c675d8012d52e57ab2bd8b8a	In 1972, Naito et al. reported two families with progressive myoclonus epilepsy (@DISEASE$) syndrome with @PHENOTYPICFEATURE$, and hyperactive deep tendon reflexes.	has_symptom
+02f91d1cb27ecc3ae2acd65337d5fae9f2e63524	In 1972, Naito et al. reported two families with @DISEASE$ (PME) syndrome with @PHENOTYPICFEATURE$, and hyperactive deep tendon reflexes.	has_symptom
+77523fcf2be49ad2880c2fadb235a698f0d3d2f6	We have identified a family with three daughters affected with @DISEASE$ with @PHENOTYPICFEATURE$.	has_symptom
+692362d354b833c5ca5e919241011279491d0254	Now they are being trained to help people with medical conditions such as cancer, diabetes, @PHENOTYPICFEATURE$, @DISEASE$ and narcolepsy.	has_symptom
+afa642f93ac190b1ddd00e243faec175cae2db5e	Episodic nausea cannot only be a sign of @DISEASE$, but can also be caused by @PHENOTYPICFEATURE$ with gastrointestinal aura due to limbic encephalitis.GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time.Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED/APS-1 that presents over the time course of the disease.	has_symptom
+aa5fe9b3c18ebda175f14dcc8a0a39b88a8d945f	The group of metabolic seizures includes hypoglycaemic seizures, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic @PHENOTYPICFEATURE$.	has_symptom
+c30dc332648d952060ee002e6fc679c527bfbc47	The group of metabolic @PHENOTYPICFEATURE$ includes hypoglycaemic seizures, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	has_symptom
+bf0eb396fefbf6472143ccfaf15e228ece2fe47b	The group of metabolic seizures includes hypoglycaemic @PHENOTYPICFEATURE$, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	has_symptom
+49e25358a63a76134f238127e61fcd041171a181	The group of metabolic seizures includes hypoglycaemic seizures, @PHENOTYPICFEATURE$ in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	has_symptom
+3b399d2fecdfbfcc9d42d348347cf01f8fcb450c	The group of metabolic seizures includes @PHENOTYPICFEATURE$ @DISEASE$, seizures in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic seizures.	false
+16772a21b295d4f6d5328f6752f028dec7706617	The group of metabolic seizures includes @PHENOTYPICFEATURE$ seizures, @DISEASE$ in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic seizures.	false
+677b2c45cd5149c802680af13b2d0e1538090f59	The group of metabolic @DISEASE$ includes @PHENOTYPICFEATURE$ seizures, seizures in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic seizures.	false
+5e504f254ee0945ac4377648097377306dea4869	The group of metabolic seizures includes @PHENOTYPICFEATURE$ seizures, seizures in ph?ochromocytoma, in Addison's disease and Conn's syndrome and the tetanic @DISEASE$.	false
+5b20a13543bd92722c899296f6a120c19fb9d503	The group of metabolic seizures includes @PHENOTYPICFEATURE$ seizures, seizures in ph?ochromocytoma, in Addison's disease and @DISEASE$ and the tetanic seizures.	false
+c68644c74149ad0573ea4b49368a11c909bdd4b8	The group of metabolic seizures includes @PHENOTYPICFEATURE$ seizures, seizures in ph?ochromocytoma, in @DISEASE$ and Conn's syndrome and the tetanic seizures.	false
+5171826cf81d3047ad2d5ef3d3bc1b5bb041dd37	The indications for AC paracentesis were virus detection (ie, corneal endotheliitis, anterior infectious uveitis, cytomegalovirus retinitis and acute retinal necrosis) in 264 eyes, bacterial detection (ie, endophthalmitis) in 8 eyes and malignancy (ie, primary intraocular lymphoma, @PHENOTYPICFEATURE$ and @DISEASE$) in 29 eyes.	has_symptom
+1ff3c36a6a1ecbb6196ebe9dc67345b5dbd293f1	In 2 families relatives died because of @PHENOTYPICFEATURE$; in these cases the tumour was a so-called diffuse @DISEASE$ occurring in elder children.	has_symptom
+0fa9e3f059d769f5a4611deebbbf4f5d33e9b95c	In 2 families relatives died because of leukaemia; in these cases the @PHENOTYPICFEATURE$ was a so-called diffuse @DISEASE$ occurring in elder children.	false
+37129980436503745ec5ddf426034e70b2ef9253	In 2 families relatives died because of @DISEASE$; in these cases the @PHENOTYPICFEATURE$ was a so-called diffuse retinoblastoma occurring in elder children.	false
+6cc10ebf3fe60a8d4662a83ab5e3d85fb1c0173c	Delayed diagnosis was associated with poor outcome for @DISEASE$ and possibly for @PHENOTYPICFEATURE$, nephroblastoma, and rhabdomyosarcoma (data were insufficient for definitive conclusions).	has_symptom
+e13dc495ded3d4c23c692f5fca87289bc0035b75	The neonatal cancers included neuroblastoma (47%), @DISEASE$ (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), @PHENOTYPICFEATURE$ (8%), and a few cases of Wilms' tumour, liver tumour, and miscellaneous tumours.	has_symptom
+77aa34a5497b238de48649fb514ee102a624b949	The neonatal cancers included @DISEASE$ (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' @PHENOTYPICFEATURE$, liver tumour, and miscellaneous tumours.	false
+5b511fbfd9ecc50beeec55233583a9d053c4d489	The neonatal @DISEASE$ included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver tumour, and miscellaneous @PHENOTYPICFEATURE$.	false
+e2767ea04ad393a499ca8a17661325e6b13283ba	The neonatal @DISEASE$ included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver @PHENOTYPICFEATURE$, and miscellaneous tumours.	false
+d651d27f8951a071055f19f9078f7679740086db	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), @DISEASE$ (8%), and a few cases of Wilms' tumour, liver tumour, and miscellaneous @PHENOTYPICFEATURE$.	false
+6682ca28a02ab3cd900cccb0f4cd7290733b2833	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), @DISEASE$ (8%), and a few cases of Wilms' @PHENOTYPICFEATURE$, liver tumour, and miscellaneous tumours.	false
+784ba3be1858e9cda6303c179cdfd9c9646bf82b	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of @DISEASE$' tumour, liver tumour, and miscellaneous @PHENOTYPICFEATURE$.	false
+695d7e87266c3f4cb9a9f980b9298a8e454e4cb8	The neonatal cancers included neuroblastoma (47%), @DISEASE$ (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver tumour, and miscellaneous @PHENOTYPICFEATURE$.	false
+0223bfcc67ff5e866a08c797986c25d6a653fa27	The neonatal cancers included @DISEASE$ (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver @PHENOTYPICFEATURE$, and miscellaneous tumours.	false
+26fb8ef0812b3effd5c783f4730b74139207ce51	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), @DISEASE$ (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' @PHENOTYPICFEATURE$, liver tumour, and miscellaneous tumours.	false
+4c4eaa381e9a197a6a3b0f8c0420626ad4886b4e	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), @DISEASE$ (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver @PHENOTYPICFEATURE$, and miscellaneous tumours.	false
+85eb1bc3179c8dd553e855d424d7d88a6c84d00d	The neonatal cancers included neuroblastoma (47%), @DISEASE$ (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' @PHENOTYPICFEATURE$, liver tumour, and miscellaneous tumours.	false
+8ee8196a21c5b45127fb1280303d76dd65fbbeb2	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), @DISEASE$ (8%), and a few cases of Wilms' tumour, liver @PHENOTYPICFEATURE$, and miscellaneous tumours.	false
+0352ff6f5b7d70d5e68d56e7e4dea18f2e61c7c4	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of @DISEASE$' tumour, liver @PHENOTYPICFEATURE$, and miscellaneous tumours.	false
+0bc596f87ddc1b39a382e76b0e16eb9a88d87efe	The neonatal cancers included neuroblastoma (47%), @DISEASE$ (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver @PHENOTYPICFEATURE$, and miscellaneous tumours.	false
+00bfb5b7ffd1664650d6df0a069162aea628a02b	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of @DISEASE$' @PHENOTYPICFEATURE$, liver tumour, and miscellaneous tumours.	false
+1b4636e3c8501b1466b23deee0681cbe8f4db6b1	The neonatal cancers included @DISEASE$ (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver tumour, and miscellaneous @PHENOTYPICFEATURE$.	false
+93f282d8ab71eb08036e9ede27b9279ca427e404	The neonatal cancers included neuroblastoma (47%), retinoblastoma (17%), @DISEASE$ (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' tumour, liver tumour, and miscellaneous @PHENOTYPICFEATURE$.	false
+7cb5a1d120ee4a5f7243bbbe9e18ef689ccacb82	The neonatal @DISEASE$ included neuroblastoma (47%), retinoblastoma (17%), soft tissue sarcoma (12%), central nervous system tumours (9%), leukaemia (8%), and a few cases of Wilms' @PHENOTYPICFEATURE$, liver tumour, and miscellaneous tumours.	false
+9ed09603f5a6f15a1803517517b6fa9fc3fd6cf4	Spontaneous hyphema in a neonate has been associated with juvenile xanthogranuloma, @PHENOTYPICFEATURE$, and @DISEASE$.	has_symptom
+bf6c87abf9fdc39e5c0df085a33b7c402bf85606	Children with tumours of the central nervous system, @DISEASE$ and @PHENOTYPICFEATURE$ were those most frequently observed to develop a second malignancy whilst osteosarcoma was the most common second tumour.	has_symptom
+28adc5f12aae2c9a39af551570895354e97ebf92	Children with @PHENOTYPICFEATURE$ of the central nervous system, @DISEASE$ and leukaemia were those most frequently observed to develop a second malignancy whilst osteosarcoma was the most common second tumour.	false
+80df9c432dc8d696ea064dda6fc46ffc8233940e	Children with tumours of the central nervous system, retinoblastoma and @DISEASE$ were those most frequently observed to develop a second malignancy whilst osteosarcoma was the most common second @PHENOTYPICFEATURE$.	false
+1d597a97f597e5d419642de3b459281568dfe9e8	Children with tumours of the central nervous system, @DISEASE$ and leukaemia were those most frequently observed to develop a second malignancy whilst osteosarcoma was the most common second @PHENOTYPICFEATURE$.	false
+78695e064750cf6cca68ba4a15f7ac27ceaa9e96	Children with tumours of the central nervous system, retinoblastoma and leukaemia were those most frequently observed to develop a second malignancy whilst @DISEASE$ was the most common second @PHENOTYPICFEATURE$.	false
+400c10b17f079eb756a45425b40b1135fd73a705	Children with @PHENOTYPICFEATURE$ of the central nervous system, retinoblastoma and leukaemia were those most frequently observed to develop a second malignancy whilst @DISEASE$ was the most common second tumour.	false
+536864bb5daa1ec18025c1ed1ed947327fe8d556	Children with @PHENOTYPICFEATURE$ of the central nervous system, retinoblastoma and @DISEASE$ were those most frequently observed to develop a second malignancy whilst osteosarcoma was the most common second tumour.	false
+e38292cd37cdb8a220678e2494fca6d253c9ad68	The vast majority were case-control studies dealing with all cancers, @PHENOTYPICFEATURE$ and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, @DISEASE$, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	has_symptom
+17c81edc3bff4a5cc8c160adbf5f5104db71d47c	The vast majority were case-control studies dealing with all @DISEASE$, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' @PHENOTYPICFEATURE$, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+eed751922cdc2f1db4693ade1291a119724e3800	The vast majority were case-control studies dealing with all cancers, @DISEASE$ and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+2259a3f059526794c0f4b2c92b2cf3ad82a361ed	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, @DISEASE$, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+e2d6cf734ade178f85805ab28a44612c5152a2d1	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, Wilms' tumour, retinoblastoma, neuroblastoma, @DISEASE$, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+ee988ce2161d56d0533c2a2cfec81243e7685e0a	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' @PHENOTYPICFEATURE$, retinoblastoma, neuroblastoma, hepatoblastoma, @DISEASE$, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+b5f69fa2324ba8a182937e6167c14fd22e5b5813	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, @DISEASE$' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+686d6a9ffe9330a52b4c16da159dc1e870a91bf3	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, @DISEASE$, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+909e7eaecace319de867fc88208d3be68d412b01	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, @DISEASE$, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+9b4a65a2e75a127f70748a8f0273da38bd404eef	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, Wilms' tumour, retinoblastoma, @DISEASE$, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+70d90d2b795f3226a20b39cb94fbc58ab55b2906	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, @DISEASE$, rhabdomyosarcoma, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+05b0c4dda05165464c483365ec94b089489d557f	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, @DISEASE$, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+10abe62e0fbfdf22d28ab17f36bb715683cea3cb	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, @DISEASE$, rhabdomyosarcoma, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+01c2b1a253d73dc3ca48be4c7d711c5d7647461f	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, @DISEASE$, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+4f7996dbe98804c34ff91c4f6d7e376075f1fe66	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, @DISEASE$, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+e66faca59cbb7650460d423f0c9bc30f5d13bb2c	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, @DISEASE$, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+99e47e3d23f70ccc26ab11ed85554c179bc84aa7	The vast majority were case-control studies dealing with all cancers, @DISEASE$ and lymphomas, central nervous system (CNS) tumours, Wilms' @PHENOTYPICFEATURE$, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+24a973e8875e8c7dd230cbf848e0c066bd9d16a6	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, @DISEASE$' @PHENOTYPICFEATURE$, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+f5a0ce3e02284ef16acd92a6ccb5791e3240ed0d	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, @DISEASE$, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+e17197e732ee4f9537f228793ad5b9c11a214a0a	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, @DISEASE$, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+ecf2bc61667470fde1aa54f78b8856e39d3cee13	The vast majority were case-control studies dealing with all @DISEASE$, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+7c2388de1cd6d85ef0b589d3821dd17544f8025a	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, @DISEASE$, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+e6cf25d87a4ca2c9b913e1a309e8b3d8020edcf6	The vast majority were case-control studies dealing with all cancers, @DISEASE$ and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+55e277fc9ce94b7bf5a846b0459d309118e99b8d	The vast majority were case-control studies dealing with all cancers, @DISEASE$ and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+c574aca10f8f7a84a544b96f06d81c185b5ffd25	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, @DISEASE$' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+4526b1633117677d8282fa688f44d3f493ced127	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, Wilms' tumour, @DISEASE$, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+b4cd3061c2785d27ef0e5b9a79538af089cad4cc	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, @DISEASE$, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+00063a4778cca50398b1211abaa792d76a6b5dab	The vast majority were case-control studies dealing with all @DISEASE$, leukaemia and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+f29bfc630abde796371689407011d1aa261ad43b	The vast majority were case-control studies dealing with all cancers, @DISEASE$ and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+a216be0549920e186ac00a5d748ce4bab7e99bb4	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) @PHENOTYPICFEATURE$, @DISEASE$' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+76c2ae24b38ef0b6a864afadfe68f9f7871b2e8e	The vast majority were case-control studies dealing with all @DISEASE$, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell @PHENOTYPICFEATURE$, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+0913a39b1cafd2d7dbb58080dff1ac5446f6527e	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' @PHENOTYPICFEATURE$, retinoblastoma, neuroblastoma, @DISEASE$, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+d1c2b11663e1411808101a3d80a00790f0e89841	The vast majority were case-control studies dealing with all @DISEASE$, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues @PHENOTYPICFEATURE$, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+5578da49a1b3a925076abb612bb77f76f8943ddf	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' @PHENOTYPICFEATURE$, @DISEASE$, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+89f37b2cc9bff614ddbae11ce585d12e7564772c	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, @DISEASE$' tumour, retinoblastoma, neuroblastoma, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS @PHENOTYPICFEATURE$.	false
+c66048912789690027421ba1f78807ff50a83918	The vast majority were case-control studies dealing with all cancers, leukaemia and lymphomas, central nervous system (CNS) tumours, Wilms' @PHENOTYPICFEATURE$, retinoblastoma, @DISEASE$, hepatoblastoma, rhabdomyosarcoma, bone and soft tissues tumours, germ cell tumours, as well as specific histological types of leukaemias, lymphomas or CNS tumours.	false
+ba15f1f8332cfee586fdf0bbf12dcd7ba99c72a6	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal anomalies.	has_symptom
+4bb0565d79881994bc0b8c0f0b75fdfed410ec8e	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+90544348a6cc33a7971ef10d0d930d782f369886	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+c4b79c2d0d480c46572f1ee69d9e29f1e66ab96f	@DISEASE$ is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+90e07b8f282354aa7a92b19ea8075d9d80da8217	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, @DISEASE$, syndactyly, and other ectodermal anomalies.	false
+7f461920509761bb4b49ed7443232b715d156c95	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, @DISEASE$, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+064eb0b24cc365e89ee32262ff580afca24ed2fa	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, @DISEASE$, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+98d36c18e252ceb2fcccfdb733a4e00e505a2670	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+a7653506c64b66be07fbc0a32129b70d1f56586d	Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including @PHENOTYPICFEATURE$, @DISEASE$, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+89fb7f5c4fef31ec76565f8157f0feea6833162f	Rheumatologists should be aware of the possibility that Rhupus may be accompanied by progressive or life-threatening conditions such as @DISEASE$, severe Raynaud's syndrome with digital ulcers, pulmonary @PHENOTYPICFEATURE$, or malignancies.	has_symptom
+14be7fd4f11c8f8fbc0882f6ad92cf2cb5185b7d	Vitamin D deficiency (serum level ?15 ng/ml) was documented in 49.5% of our @DISEASE$ patients versus 30% of controls (p<0.001) and was significantly correlated with thrombosis (58% vs 42%; p<0.05), neurological and ophthalmic manifestations, pulmonary @PHENOTYPICFEATURE$, livedo reticularis and skin ulcerations.	has_symptom
+58df7effaeabf7fef50b45695c89e7083410be90	Intracardiac thrombi and myxomas, pulmonary @PHENOTYPICFEATURE$ and left ventricular dysfunction are also distinguishing features of @DISEASE$.	has_symptom
+8b4655f72f876a5c4f18215543906ef750ceb197	Prevalence of myocardial disease in @DISEASE$ cohort was assessed taking into account primary risk factors (hemodynamically significant valvular disease, @PHENOTYPICFEATURE$, diabetes, alcoholism, myocardial infarction or myocarditis), the same as for pulmonary hypertension (severe left ventricular dysfunction or chronic lung disease).	has_symptom
+a89c75f98107987485c735b667ad0636b065e323	Cardiac involvement in @DISEASE$ may be presented as heart valve disease affecting approximately a third of patients or less frequently as intracardial thombosis, pulmonary @PHENOTYPICFEATURE$, right or left ventricular dysfunction, micro-vascular thrombosis, coronary artery, or micro-vascular disease with overt or silent clinical presentation.	has_symptom
+a77bc5e42338bcb5d7721eb7301ec46f5c436f46	A 54-year-old patient with painless jaundice and @PHENOTYPICFEATURE$ had been diagnosed with a @DISEASE$ 20 years before.	has_symptom
+505ad07ecc3381ae19ec6fc05bf0ea2aaf7ad9d8	A 42-year-old man with @DISEASE$ presented with epigastric pain, @PHENOTYPICFEATURE$, and severe anemia.	has_symptom
+b3406b7eef118f119ab6f62d9e6407e3383a25d9	Probably, the low figures of @PHENOTYPICFEATURE$ are related to high diagnostic rates of @DISEASE$, and to early treatment.	has_symptom
+b42b9c7a1d943537df4ee5add9a23c84cf99d89e	@DISEASE$ (GCA) is well known for its involvement of the proximal aorta and its branches, classically causing headache, @PHENOTYPICFEATURE$, and elevations in the erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP).	has_symptom
+27b814fa43804f78d22c74a409cfc34b394ba2fa	A @PHENOTYPICFEATURE$ occurs in about 50% of patients with @DISEASE$ (GCA), an amaurosis fugax (AF) in about 30%, and diplopia in about 10%.	has_symptom
+c80ff8585f74abbc27a3d7c3daf28b074eb97441	We report the case of two Egyptian sibling patients suspected of @DISEASE$ (CD) showing clinical deterioration, white matter degeneration, megalencephaly and severe @PHENOTYPICFEATURE$.	has_symptom
+0bd466302307a7fe39b86803cbad19584523504f	Diplopia, @PHENOTYPICFEATURE$, and hepatitis as presenting signs and symptoms of @DISEASE$.	has_symptom
+8613163c7ac512581a7bb7af650dc240321f518b	Ophthalmoplegia and @PHENOTYPICFEATURE$ were the major manifestations of @DISEASE$ in one patient.	has_symptom
+ead87de5144593ef840bb67f70451945d638a34d	A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple @DISEASE$, @PHENOTYPICFEATURE$, and esophageal stenosis.	has_symptom
+cc05b96accc42afcbb5cb96f1f66e8d6a25412e4	Novel c-KIT germline mutation in a family with @DISEASE$ and @PHENOTYPICFEATURE$.	has_symptom
+166c767f591a1493b705898f9c752d85068917c2	We describe 2 siblings with multiple @DISEASE$ (GISTs) and @PHENOTYPICFEATURE$.	has_symptom
+2996f6924dba883ccc91c33152849683acd89474	We described two members in a family with @DISEASE$ (GISTs) without @PHENOTYPICFEATURE$.	has_symptom
+0f3624b4a74d224521baca5882ef9300138a92f5	Remarkable effects of imatinib in a family with young onset @DISEASE$ and @PHENOTYPICFEATURE$ associated with a germline KIT-Trp557Arg mutation: case report and literature overview.	has_symptom
+e2e33a78612f78033d372b6eb67f7d26de51f579	To report a novel clinical and genetic presentation of a patient with @DISEASE$, which is a recently described leukodystrophy syndrome characterized by @PHENOTYPICFEATURE$, hypomyelination, hypodontia, and hypogonadotropic hypogonadism.	has_symptom
+14862feb19d725654c9ce45cd274f1d7c9898b11	To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described @DISEASE$ syndrome characterized by ataxia, hypomyelination, hypodontia, and @PHENOTYPICFEATURE$.	false
+42dac2ade85d575008be4b9c057488187feea407	To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy @DISEASE$ characterized by ataxia, hypomyelination, hypodontia, and @PHENOTYPICFEATURE$.	false
+e17af149b4584a7b5d53f6e28ff50d5038dac1fb	To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+713a4284e68fb7b4982fed583d8124869179a220	To report a novel clinical and genetic presentation of a patient with @DISEASE$, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and @PHENOTYPICFEATURE$.	false
+9ec54e24a68b52e25f1350dea5e4a5ee35775035	To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by @DISEASE$, hypomyelination, hypodontia, and @PHENOTYPICFEATURE$.	false
+186533ae6518dd39c273286ff9949849e6562c96	To report one patient with slowly progressive encephalopathy, @PHENOTYPICFEATURE$, central hypomyelination, hypodontia and hypogonadotropic hypogonadism, the @DISEASE$.	has_symptom
+43bd0bfc42b1ba0c0dc0ff31091ac13e894f4b1d	To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism, the @DISEASE$.	false
+240fa96419cd47b8bf76d1b99cfdd6f8ca564c3f	To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and @PHENOTYPICFEATURE$, the @DISEASE$.	false
+d208281d6c111db087596b0cf405916b203cc883	To report one patient with slowly progressive encephalopathy, @DISEASE$, central hypomyelination, hypodontia and @PHENOTYPICFEATURE$, the 4H syndrome.	false
+e4e808cea590d41b1537d5ac89d1341a00ca90ea	To report one patient with slowly progressive encephalopathy, @DISEASE$, central hypomyelination, @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism, the 4H syndrome.	false
+52af173c547f182fea4feacbde9ea36d6072ea17	@DISEASE$ in Ashkenazi Jews and other non-Puerto Rican patients with @PHENOTYPICFEATURE$ and platelet storage-pool deficiency.	has_symptom
+d31274fdb1b8929ed820498fddda6cd5daa50111	Subclinical @PHENOTYPICFEATURE$ and hair in a Japanese patient with @DISEASE$.	has_symptom
+af10da0c04c352701e85703d762225c87bf2c865	@DISEASE$ is generally easy to identify on clinical presentation, it is a chronic subcutaneous inflammatory @PHENOTYPICFEATURE$ with discharging sinuses.	false
+ee3394330802b7dcb8647c868ea6505ab53e4535	[A dorsolumbar @PHENOTYPICFEATURE$ actinomycosic mycetoma, an unusual @DISEASE$ presentation].	false
+ffc9a26b53135940c08cd28ad4926deb66800759	[A dorsolumbar @PHENOTYPICFEATURE$ actinomycosic @DISEASE$, an unusual mycetoma presentation].	false
+e6d6b63837b149004c906ad8247a59580ca63207	Translationally controlled tumor protein from Madurella mycetomatis, a marker for @PHENOTYPICFEATURE$ @DISEASE$ progression.	false
+cb57efeb6d850913da13f0b4bebe8969bc3f3eff	@DISEASE$ is a @PHENOTYPICFEATURE$ infection of skin and subcutaneous tissue.	false
+28d915740f8301561667d14df5dffc291ce60f1c	@DISEASE$ is a localized, chronic, progressive, granulomatous, inflammatory, non contagious, @PHENOTYPICFEATURE$-like lesion with sinuses discharging different types of granules.	false
+1c0495c49076d7a29089d1ba41612b254456f730	Radiographic or CT findings were suggestive of @DISEASE$ in five cases, but no such @PHENOTYPICFEATURE$ were found at transplantation.	false
+8dd3fd91a607137412f3fa93adb21500ab83eccf	@DISEASE$ is a chronic suppurative disease of the skin and subcutaneous tissue, characterized by a symptomatic triad: @PHENOTYPICFEATURE$, fistulas and grains.	false
+5097abc275bd1f90289f45eb45968a3bf54650ac	In tropical and subtropical areas where @DISEASE$ is endemic it should be included in the differential diagnosis of @PHENOTYPICFEATURE$ of the facio-maxillary region.	false
+0f222429d30471fb40eb43db8a45c7f31ffec04f	@DISEASE$ has a characteristic clinical presentation of a triad of @PHENOTYPICFEATURE$-like swelling, draining sinuses, and macroscopic grains.	false
+118ba665c73e7863198df92e19b57d23712dddd3	From a review of 94 original cases of @DISEASE$, a description of the most important histo-pathological features of these @PHENOTYPICFEATURE$ is given.	false
+522591ef816bc798f598d0636f6b44e0874112bc	The aim of this study was to examine the relationship between clinical management, cardiac @PHENOTYPICFEATURE$ intensity, and state anxiety for rural @DISEASE$ patients awaiting diagnostic CATH.	false
+7d83302b6930a005c7b621b1acc1914834aaa673	Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital @PHENOTYPICFEATURE$, and midfacial hypoplasia and is related to the acrocephalosyndactylies (@DISEASE$) with limb abnormalities.	false
+8b3face17bee2bc93ba32d21562d33a6e1f3eee6	Asthma co-existing with SCD is associated with increased risk of acute chest syndrome (@DISEASE$), respiratory symptoms, @PHENOTYPICFEATURE$ episodes, and death.	false
+404c008a69292397741f68bdc8e8a9eaacbe5e09	Auriculo-Condylar Syndrome (@DISEASE$) is a craniofacial malformation syndrome characterized by external @PHENOTYPICFEATURE$, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia.	false
+7299b090bd1408c418c418025fca58ae099f4264	A patient with @DISEASE$ and several high-risk features, including thrombocytopenia, profound @PHENOTYPICFEATURE$, bilateral pulmonary infiltrates, staphylococcal sepsis, and pulmonary embolism is presented.	false
+66dc53ebacb4fa27b8d38e120ebc8c40f6ba05db	These cohorts were identified in 2006 through 2011 and were followed in 31 December 2012, for first ever occurrence of acute coronary syndromes (@DISEASE$), deep venous @PHENOTYPICFEATURE$, pulmonary embolism and stroke, respectively.	false
+79d257c284fb8b689ac50cb9f8107a5a24b07f2d	Elevated IL-6 levels in patients with @DISEASE$ derive from a cardiac source, presumably from "inflamed" coronary plaques and areas of @PHENOTYPICFEATURE$, whereas elevated levels in patients with CHF are most likely the result of extracardiac production.	false
+83f0a5bca3a4475903d55bff94037f3109be6ce6	We used a random effects statistical model to examine the relationship of @PHENOTYPICFEATURE$ changes over time with @DISEASE$ changes.	false
+6e8bb29dfc8c1eba9ef72ee163d32c968be96d04	The possibility of @DISEASE$ deficiency should be considered in any patient presenting with @PHENOTYPICFEATURE$, vomiting, muscular fatigue and stiffness, hyponatraemia or hypoglycaemia.	false
+b4c1772dcb61336a79a68e4b5a11eccbdc55f522	Recently, in the prognostic assessment of @DISEASE$ patients attention has been paid to hyperglycemia, leukocytosis, decreased GFR, @PHENOTYPICFEATURE$ and thrombocytopenia as they are believed to worsen the prognosis.	false
+b8b3e253c02f687477a5882851b52e2c13fed15e	No de novo @PHENOTYPICFEATURE$ in ABCA12 has yet been reported either in HI or @DISEASE$.	false
+22377d7cd9f989f0aeeb8fad7d0d597e3e3479fb	TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, @PHENOTYPICFEATURE$, @DISEASE$ and gonadal malformations.	false
+ceed548df23ac85ff3d17e75ef130bd796c3ebd3	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+c53802a079f9583341c11fa7cddd2c928290e5fe	In this case report, we will discuss a case of intractable facial @PHENOTYPICFEATURE$ in a 57-year-old male with a history of @DISEASE$ who was initially misdiagnosed and treated as trigeminal neuralgia.	false
+6915e9c33c779327e14a7c6b40aa967687761bc6	Diagnostic testing should be reserved for patients who exhibit warning signs (i.e., @PHENOTYPICFEATURE$, dysphagia, gastrointestinal bleeding) and patients who are at risk for complications of esophagitis (i.e., esophageal stricture formation, Barrett's @DISEASE$).	false
+b6488ab3075b385e7c70fa6d2134e7d7001d5c96	Malignant meningitis secondary to @DISEASE$ presenting with @PHENOTYPICFEATURE$: a series of three cases and discussion of the literature.	false
+f3aff6da454efb0dbe85abdadaa612f8ee80422b	The neurological deficits in @DISEASE$ were reported as severe neurodevelopmental delay, @PHENOTYPICFEATURE$, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems.	false
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	false
+5aee345a856b3b79b85b9eca69c09024cbcbd272	A 12-year-old boy who presented with unilateral @PHENOTYPICFEATURE$ and exophthalmos was found to have retinocephalic vascular malformations (@DISEASE$ or Wyburn-Mason Syndrome).	false
+b0872db60c5495d8abf3b42a8b9c5bb0576b6f2a	A 12-year-old boy who presented with unilateral @PHENOTYPICFEATURE$ and exophthalmos was found to have retinocephalic vascular malformations (Bonnet-Dechaumme-Blanc syndrome or @DISEASE$).	false
+60e6632d781ab5687ed061db76c48f2f4c2bbe75	The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (@DISEASE$ and DFNB1 @PHENOTYPICFEATURE$).	false
+63300a979516176e3167c3ff2f328006f23b611a	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: @DISEASE$; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f7b90479a98c26b1f5901e5a1a36eb1dff3b851a	We present the case of a 27 year-old male patient who was admitted for elective scoliosis correction surgery and who represented after an uncomplicated discharge with headache and @PHENOTYPICFEATURE$; because of a gaze palsy he underwent brain imaging that confirmed a brainstem abnormality, consistent with the syndrome of horizontal gaze palsy with progressive scoliosis (@DISEASE$), a rare autosomal recessive human disease.	false
+a62d33243927a2d6837126794536287673904628	We present the case of a 27 year-old male patient who was admitted for elective scoliosis correction surgery and who represented after an uncomplicated discharge with headache and @PHENOTYPICFEATURE$; because of a gaze palsy he underwent brain imaging that confirmed a brainstem abnormality, consistent with the syndrome of @DISEASE$ (HGPPS), a rare autosomal recessive human disease.	false
+225ba4af2e141bdb8fd34948eeecac0a1d703ae4	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+33bc2c46a238c2db9c22a688218bb13eeb269670	@DISEASE$ is a rare, autosomal-recessive disorder of lipoprotein metabolism that is characterized by severe hypertriglyceridemia with episodes of abdominal pain, acute pancreatitis and eruptive cutaneous @PHENOTYPICFEATURE$.	false
+f3a999d83e20d5d89bf1606428f4e7f303840f3e	A syndrome of short stature, microcephaly and @PHENOTYPICFEATURE$ is associated with duplications reciprocal to the common @DISEASE$ deletion.	false
+25824ff7263f1a42533f730c67b6d792f8e761b2	Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of @DISEASE$ without an NSD1 alteration, especially when there is craniosynostosis or marked @PHENOTYPICFEATURE$.	false
+fbdd4e5faf8a3cdf39880dffd023a33b21ea8871	Our findings suggest that @DISEASE$ is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with @PHENOTYPICFEATURE$ and macrocephaly is not warranted in the absence of other features of Sotos syndrome.	false
+d4151a48d65469869aa8f6032083e9ab2023ba2e	Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with @PHENOTYPICFEATURE$ and macrocephaly is not warranted in the absence of other features of @DISEASE$.	false
+e36764721e0270df0da87ff055d6c55705e8dc4f	@DISEASE$ has been described in a number of patients with autism spectrum disorders, suggesting that NSD1 could be involved in other cases of @PHENOTYPICFEATURE$ and macrocephaly.	false
+353fe52e595fdbcd5c2dc92cbcd565fc2dcca66a	Triple A syndrome (alacrima, achalasia, adrenal failure, @PHENOTYPICFEATURE$ disease) is caused by mutations in the AAAS gene which encodes the protein alacrima @DISEASE$ adrenal insufficiency neurologic disorder (ALADIN).	false
+036de0af069f89c5bb9a7978d73ec46f45d1587a	Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II @DISEASE$ and proposes that a variable sensorineural hearing loss onset, @PHENOTYPICFEATURE$, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1.	false
+318826aaa682d83a1d21fc93d25cc9a7528bc41b	We describe a boy with @DISEASE$"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with @PHENOTYPICFEATURE$; cryptorchidism; and polydactyly of hands and feet.	false
+c507ff2aefe58009f2e90424b065667a4cc3a6c4	Known risk factors for uveitis include antinuclear antibody seropositivity, young age of @PHENOTYPICFEATURE$ onset, specific juvenile idiopathic arthritis subtype and short @DISEASE$ of disease.	false
+c26dbcc7205512a9877b8421cdd033e77255a98d	He also developed severe @PHENOTYPICFEATURE$ @DISEASE$ infancy, rotatory nystagmus, and nephroureteral malformations.	false
+a205c7d7941ecf9f36d9ee79ffc6589a97bda66e	A case of bilateral Duane's retraction syndrome (@DISEASE$) type III associated with Kallmann's syndrome (@PHENOTYPICFEATURE$ and anosmia) is reported.	false
+560bf0418311922343b0ba06168af4564867f183	Intracranially, xanthogranulomas appear as rare @PHENOTYPICFEATURE$ of the @DISEASE$ or choroid plexus, usually arising in association with histocytosis X or familial hyperlipoproteinemia.	false
+1bf2b74ce750f46df1197cbf663a9a3e5c563237	Intracranially, xanthogranulomas appear as rare tumors of the @DISEASE$ or choroid plexus, usually arising in association with histocytosis X or familial @PHENOTYPICFEATURE$.	false
+5326a09b22db5833cf7884f3222daa9194376822	This is the first study to show an association of rs11833579 with multiple episodes of @PHENOTYPICFEATURE$ of atherothrombotic origin, and of rs11833579 and rs12425791 with short @DISEASE$ of ischemia.	false
+dc6b94828d8f5d4a37a5e32f0be94def47860cc7	To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral @DISEASE$, modest dysmorphism, @PHENOTYPICFEATURE$, and normal cognitive function.	false
+21ada4f6e1b77e670173667ccbbf21e5c85a895e	Compared with longer @DISEASE$ disease, at onset, AS patients report upper limb @PHENOTYPICFEATURE$ more frequently and uSpA patients report more of enthesitis.	false
+1180c8812a4937449236e9c7fdaaef97d45a3e02	[Bilateral @DISEASE$ associated with @PHENOTYPICFEATURE$ and anosmia (Kallmann syndrome)].	false
+501d81633a6aa40bb111bbdc8db4debb925513c1	While Duane retraction syndrome (@DISEASE$) is relatively common, surgical management of the associated strabismus can be challenging because of the lack of abduction/adduction, the variable severity of muscle @PHENOTYPICFEATURE$, and the variety of clinical presentations.	false
+efc701f3dc3e63acb469fdc11a129ce619af843d	While @DISEASE$ (DRS) is relatively common, surgical management of the associated strabismus can be challenging because of the lack of abduction/adduction, the variable severity of muscle @PHENOTYPICFEATURE$, and the variety of clinical presentations.	false
+df897a1511f33e47be85c7171faac00bcaabc5c1	Rapidly progressive @PHENOTYPICFEATURE$ (RPRF) is an initial clinical diagnosis in patients who present with progressive renal impairment of short @DISEASE$.	false
+24d7805e99389daba177794cacb8eb7a939fb14b	Haploinsufficiency of the NSD1 gene leads to @DISEASE$ (Sos), which is characterised by excessive growth, especially during childhood, distinct craniofacial features and variable degree of @PHENOTYPICFEATURE$.	false
+41f6b5e83b2766846504b4289b4f18fbe2bd2c37	Based on cases that had been excluded from a previous clinical study of @DISEASE$, Cole and Hughes [1991: Am J Med Genet 41:115-124] reported a new syndrome associated with marked obesity, occasional @PHENOTYPICFEATURE$, distinctive facial anomalies, mental retardation, and progressive postnatal macrocephaly in the context of autosomal dominant familial macrocephaly.	false
+427e4ed4eef0c72af68b206b20f8a6a1dcf78d4e	Sonic hedgehog in @DISEASE$ and @PHENOTYPICFEATURE$ development.	false
+5e76af56b13b531ee5f2d4a5a23a3935eae91986	Intracranial undifferentiated malign neuroglial @PHENOTYPICFEATURE$ in @DISEASE$: A theory of a possible predisposing factor for primary brain tumors via a case report.	false
+b3b8370b234e15114d2a2e7bb7e51544d8b8f0f0	A novel DHCR7 mutation in a @DISEASE$ infant presenting with neonatal @PHENOTYPICFEATURE$.	false
+0db0739aab936d8a7b154b35ef971b43dc015d91	We present three individuals with @DISEASE$ and lesions in the basal ganglia or brainstem detected by MRI that were concerning for @PHENOTYPICFEATURE$ formation.	false
+2248191a3f5633d5396284c686e24f5fb3259e71	The RSH/@DISEASE$ (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and @PHENOTYPICFEATURE$, and mental retardation.	false
+108634e96342a9cb07bb2893b802186a98e16758	Six defects in the post-squalene segment of the pathway include: @DISEASE$, two X-linked dominant inherited and male-lethal disorders, Conradi-H?nermann-Happle syndrome and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD), and at least three extremely rare autosomal recessive disorders, Greenberg @PHENOTYPICFEATURE$, lathosterolosis, and desmosterolosis.	false
+ec09d41c8847dac5528e884b4161fe5e420b3bdc	@DISEASE$, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, @PHENOTYPICFEATURE$, and male pseudohermaphroditism.	false
+58c674f13668380dccdce99af7c26b5e9083932f	Prognostic factors for metastatic testicular germ cell @PHENOTYPICFEATURE$: the Memorial @DISEASE$-Kettering cancer model.	false
+0c2c67561fb814a6e33b747d68b9ec7fe041402d	This child had clinical features similar to @DISEASE$ like facial dysmorphism and cardiac and @PHENOTYPICFEATURE$ with failure to thrive.	false
+c5a22d19596f923fc6d376fca5a57539cd2dcaaa	@DISEASE$ (SLOS) is a disorder of cholesterol synthesis characterized by mutations of 7-dehydrocholesterol reductase (DHCR7) that impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol and lead to neurocognitive deficits, including @PHENOTYPICFEATURE$ and austism behaviors.	false
+170ce23b46c042726c89bac73d31edd5f9dc8019	Smith-Lemli-Opitz syndrome (@DISEASE$) is a disorder of cholesterol synthesis characterized by mutations of 7-dehydrocholesterol reductase (DHCR7) that impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol and lead to neurocognitive deficits, including @PHENOTYPICFEATURE$ and austism behaviors.	false
+922b6d5f6d2e06d44bb3fad33c83e03ed75d2dd7	In fatal human @DISEASE$, severe hypotension, circulatory shock, and @PHENOTYPICFEATURE$ develop as terminal events.	false
+a4497f20c20c3aa4546a6dd0e2a2413ced7edbcd	Nontraditional applications of BoNT have been reported for the treatment of the following dermatological conditions: hyperhidrosis, Hailey-Hailey disease, @DISEASE$, inversed psoriasis, aquagenic palmoplantar keratoderma, pachyonychia congenita, multiple eccrine hydrocystomas, eccrine angiomatous @PHENOTYPICFEATURE$, eccrine sweat gland naevi, congenital eccrine naevus, Raynaud phenomenon and cutaneous leiomyomas.	false
+b7b17e649121ec6dfc11d6a75839efc39ec65ee0	Hypotrichosis with @DISEASE$ and @PHENOTYPICFEATURE$: a new phenotype due to GJA1 mutation.	false
+dd54b80edc60bec11cbc696fe2f1013fdd489c84	Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local @PHENOTYPICFEATURE$, lymphomas, and @DISEASE$.	false
+8fb761e5d6647186d2c4dee9f612cec02d04b4bc	Placental @DISEASE$ is a rare disease characterized by a masculinized female fetus and a virilized mother, which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting @PHENOTYPICFEATURE$.	false
+dd54b80edc60bec11cbc696fe2f1013fdd489c84	Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local @PHENOTYPICFEATURE$, lymphomas, and @DISEASE$.	false
+6d3f1d5baef136d4803dd30cf5dbfcfcf585bf85	Myelodysplastic syndromes (MDS) are a varied set of @PHENOTYPICFEATURE$ and a high risk of progression to @DISEASE$ (AML).	false
+3b353a394315f0c92acdc7700c50c4fba49f68e2	@PHENOTYPICFEATURE$, particularly @DISEASE$ (AML) and myelodysplastic syndromes (MDSs), have been commonly reported in association with SS.	false
+eb83b79aedb936388f57650084e788ac416a46bb	Mithramycin A is an antitumor compound used for treatment of several types of cancer including chronic and @DISEASE$, testicular carcinoma, @PHENOTYPICFEATURE$ and Paget's disease.	false
+4a95d57dc71f66fc71398d99b51c062b7bd14b9b	Bone marrow mastocytosis may be associated with many clonal non mast cell @PHENOTYPICFEATURE$ and its association with @DISEASE$ especially with t (8; 21) has been described.	false
+cadd00f8db574957a1ce38a4236b6cd840ecf15c	Various genome-wide associated studies have linked human Vwa8 to both neurological and oncological pathologies, which include @PHENOTYPICFEATURE$, bipolar disorder, comorbid migraine, and @DISEASE$, however, the function and role of the VWA8 protein remain poorly understood.	false
+29ddaf196a0bd0c8d605967db40e5e84b354592b	Fanconi anemia is a rare, autosomal recessive genomic instability disorder characterized by congenital @PHENOTYPICFEATURE$, panmyelopathy and a high risk of malignancy, principally @DISEASE$.	false
+a9c56e7ee488b8c033541765931d07a97981e9eb	@PHENOTYPICFEATURE$, particularly @DISEASE$ and myelodysplastic syndromes, are the most commonly associated malignant conditions.	false
+aa440ac9a15d922b7ff0feda652a1bc6135b27bf	Non-syndromic @DISEASE$ is a rare form of genetic @PHENOTYPICFEATURE$ accounting for a small proportion of all hereditary hearing loss.	false
+cfcf9cec75d141cdc08f9ea5be8ba5cbceb88cc6	@DISEASE$ is a rare cause of hereditary @PHENOTYPICFEATURE$.	false
+f8fc691313c0f61af9c491181ab170b12392118d	Phenotypic evidence for a common pathogenesis in @DISEASE$ pedigrees and in Xq13-q21 deletion related @PHENOTYPICFEATURE$.	false
+23e5a5e571832f52cd4cd5638fa882d3d54eb694	@DISEASE$ is a rare cause of hereditary isolated @PHENOTYPICFEATURE$ estimated as at least 1% or 2% of the non-syndromic hearing loss.	false
+6384810d83dbf1d293d492ba8141d5fb6ed893b8	We have performed detailed clinical evaluation and linkage studies on seven pedigrees with nonsyndromic @DISEASE$ and conclude that there is evidence for at least two loci for this form of @PHENOTYPICFEATURE$, including one in the Xq13-q21 region.	false
+dc8dedafef27f64cff61844f7bf17acac5690c43	Mutations in the @DISEASE$-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of @PHENOTYPICFEATURE$ associated with dystonia.	false
+57a9d758f7cc6b682a42151373b73f5b94370ef5	Non-syndromic @DISEASE$ is a rare form of genetic @PHENOTYPICFEATURE$ in humans accounting for a small proportion of all hereditary hearing loss.	false
+0014098a6bfbfaa48d2e8a1fff79e976afd104ba	Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical @PHENOTYPICFEATURE$ ("corkscrew" cochlea with an absence of modiolus) specific to @DISEASE$-2 (DFNX2).	false
+2141f2935611c4ac61e529991205e8857af670e0	Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic @PHENOTYPICFEATURE$ and, more recently, the cloning of an @DISEASE$ gene, DFN3, and the Usher syndrome type IB gene.	false
+fa85d1f3d5ee5b420beb8e4446f299ee0b9b5219	The @DISEASE$ is characterized by craniosynostosis and @PHENOTYPICFEATURE$ of hands and feet.	false
+7347439fcc22e05e7d95dc69058ecf9f505629f9	[Surgical treatment of hand @PHENOTYPICFEATURE$ in @DISEASE$].	false
+add4ae7a8e2101263f23d17c1b7b11581d8c2293	@PHENOTYPICFEATURE$ correction of the hand in @DISEASE$.	false
+414efebebc9d167bac0924e8835aecb57296cb78	@DISEASE$ is a congenital condition characterized by craniosynostosis, @PHENOTYPICFEATURE$, and maxillary hypoplasia.	false
+a6255ab9d1ba7b0bad2e47092215312848fb945c	Between 1995 and 2010 seven patients with @DISEASE$ underwent reconstructive surgery of the complex hand @PHENOTYPICFEATURE$.	false
+5ea91ed366d868b70e591f2a3c0df0eb7efa778a	@DISEASE$ is characterized by craniosynostosis, midfacial hypoplasia and bilateral @PHENOTYPICFEATURE$.	false
+3a588663ea1e78d613dc64b7f9406bf0ce5e18ea	Acrocephalosyndactyly Type I, or @DISEASE$ is a congenital disorder characterized by craniosynostosis and @PHENOTYPICFEATURE$.	false
+c2b8a6d66c018ca3becd1005ab2d99137dde493f	@DISEASE$ (AS) is characterized by craniosynostosis, midfacial hypoplasia, and bony @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+856005728e657a2e8ce4981e0cedc01ea098c37c	The @DISEASE$ hand demonstrates many typical clinical features including @PHENOTYPICFEATURE$, symbrachyphalangism, and growth disturbances.	false
+6ac90ac484d9c61ea8c7381b5e8117b115f90398	We thus concluded that @DISEASE$, steroid-dependent diabetes mellitus, rheumatoid arthritis, RA, and skin @PHENOTYPICFEATURE$ in our patient were triggered by plasma cell dyscrasia.	false
+5f487a7fa8a003e106b6967eefbf1f6fa17dcc2f	Progressive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0cc50f98f96086c540f98d6dd1b0acb3610a1d33	According to the literature, up to 50% of the cases with @DISEASE$ reveal @PHENOTYPICFEATURE$.	false
+3c5d0ced6ef47b124e62c80ab71429619edd075f	Possible mechanism of progressive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+580ed50953e477e05558ba902438f333249c4fc9	[A case of @DISEASE$ with @PHENOTYPICFEATURE$: its glomerular lesions are different from membranoproliferative glomerulonephritis].	false
+63f7f3362ab4ea7c79b03fd62d73638fb3fa9dae	[Cutaneous @PHENOTYPICFEATURE$ in a patient with @DISEASE$].	false
+345bb520abbe82cf5ed7743d41aec1d7d96550a6	Little treatment data exist to direct the clinician to proper management of rare inflammatory neuropathies resulting from osteosclerotic myeloma; @DISEASE$; vasculitis; Sj?gren's syndrome; and @PHENOTYPICFEATURE$ (paraneoplastic neuropathy).	false
+a1f1c7183d4d4b83ad8eba0d4981387b9cc2203a	Little treatment data exist to direct the clinician to proper management of rare inflammatory neuropathies resulting from @DISEASE$; POEMS syndrome; vasculitis; Sj?gren's syndrome; and @PHENOTYPICFEATURE$ (paraneoplastic neuropathy).	false
+86a36405dfbf000959a9e505a2461fa1b326e2ae	In @DISEASE$, substantial involvement of the kidney can occur and is reflected by proteinuria, haematuria, renal dysfunction, and @PHENOTYPICFEATURE$ requiring dialysis therapy.	false
+8bb97c65965ca6dd17110d9857cbc5b07aed30e2	We report a case of a 67-year-old male who presented with clinical features satisfying the diagnostic criteria of @DISEASE$ and had rapidly progressive @PHENOTYPICFEATURE$.	false
+f74510029ec89c0ccd5e5fc6d3d00913a23f6f90	Calciphylaxis in a patient with @DISEASE$ without @PHENOTYPICFEATURE$ and/or hyperparathyroidism.	false
+dd2866c6ca30aa60cd9a6aea3c1b2169c58ae0ab	Although she had a history of @DISEASE$, a primary @PHENOTYPICFEATURE$ was suspected.	false
+be2a0bd6489a161da59ee9b97213235c36eb6793	Lack of @DISEASE$ screening, vaginal bleeding, low @PHENOTYPICFEATURE$, and unmarried status were associated with advanced disease at presentation.	false
+67cd40b3749941a5bb81da8ee71e6c761d66657d	A 53-year-old woman presented with acute abdominal pain and @PHENOTYPICFEATURE$ and reported a history of radical hysterectomy for @DISEASE$ 6 years prior to presentation.	false
+82098c88ec8a7146cc7aafdd9a16fdc38cd348f8	Staging of @DISEASE$ based on tumor @PHENOTYPICFEATURE$ characterized by texture features on (18)F-FDG PET images.	false
+b78a5934d59bdc70ce22786554d3d05cf762ddd4	Others had locally advanced @PHENOTYPICFEATURE$ (n=1), locally advanced @DISEASE$ (n=3), ovarian cancer (n=1) and genitourinary tuberculosis with small capacity bladder along with a large vesicovaginal fistula (n=1).	false
+59a48015372a9ff817bb7a5d006449f72576dd35	In @DISEASE$ patients, fatigue, insomnia, menopausal symptoms, and in stomach cancer patients, @PHENOTYPICFEATURE$, dysphagia, reflex symptoms and eating restrictions were significantly affected.	false
+9c19fb08a8425d696070e733e887375e4f6ef730	We present a case of pyometra due to @DISEASE$ in a 62 years-old female with purulent discharge, @PHENOTYPICFEATURE$ and vaginal bleeding.	false
+b9fbaf1c9c97a65a77a3af92755daf86e9c4b733	In addition, several other countries (Chile, @PHENOTYPICFEATURE$ Rica, and Mexico) have exhibited higher @DISEASE$ mortality as well as a number of noteworthy changes in this mortality over time.	false
+885116b63ceb28eebd0a1fa535eb3fb4e8e8b411	In univariate analyses, MC was associated with lower HIV prevalence and lower @DISEASE$ incidence, but not with HSV-2, syphilis, nor, as expected, with @PHENOTYPICFEATURE$ C, tuberculosis, or malaria.	false
+86960819232b35da789bf4bd36823b88a6bfa18e	The aim of the study is to assess the staging value of the tumor @PHENOTYPICFEATURE$ characterized by texture features and other commonly used semi-quantitative indices extracted from (18)F-FDG PET images of @DISEASE$ (CC) patients.	false
+3df307ae3e877e121f7a2c75b1bad5a163b8425b	Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) mutations result in @DISEASE$ (AI) in the 5 studied patients with familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (FHHNC).	false
+dd5a72aae088d0c0c57e53c53b157e6f4e10d2ce	The facial anomalies included medio-facial hypoplasia with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+16311e565974974ba711f08b49dc4ad2fe366ed8	Further researches are necessary to understand the linkage between bone loss and enamel structure anomalies in FHHNC and to discover the relationships between nefrocalcinosis, @PHENOTYPICFEATURE$, hypercalciuria and @DISEASE$.	false
+512dcbc5147489097a9eff7f9e9912aa879f4ff1	Functional conditions, skeletal and dento-alveolar stability and condylar changes in 15 patients with @PHENOTYPICFEATURE$, anterior open bite (AOB) and @DISEASE$ (AI), who had undergone a Le Fort I osteotomy, were analysed after a mean follow-up of 5 years.	false
+45cae499a3bc61765726c1b8235df01a1a5f2ecb	Autoimmune diseases of the eye, exemplified by Beh cet disease and @DISEASE$, are a major cause of @PHENOTYPICFEATURE$.	false
+76e8eebf40249ca5c8b2d64eddb92e57df9cfd97	@DISEASE$ presenting as sensorineural deafness, brainstem @PHENOTYPICFEATURE$, and white matter lesions.	false
+3a32ccd11eacbbcdae7158d70abe7d75119ffc54	One type with involvement of the sympathetic nerves and the clinical signs of intestinal @PHENOTYPICFEATURE$, @DISEASE$ with haemorrhagic stools.	false
+d96c2896ba871d0f7ab3f14d73119b44f7eb15da	Response and remission are associated with improved quality of life, employment and @PHENOTYPICFEATURE$ status, hours worked, and productivity of patients with @DISEASE$.	false
+404692b5dcb46869fd9633fff3e51da1d9b26c2a	A case of @DISEASE$ complicated with convulsive @PHENOTYPICFEATURE$ is reported.	false
+0e71aa9e8185e38aab95631b6338e0ba5a3e80b4	A more frequent @PHENOTYPICFEATURE$ was pan-nodal vasodilatation, which tends to affect many nodes in a single group and is especially associated with @DISEASE$.	false
+ab5cc37145aceeac474cd854df2e3b02176f3107	Clinical remission [@DISEASE$ disease activity index @PHENOTYPICFEATURE$ and stool frequency subscale scores of 0] was similar in both groups [p = 0.70].	false
+d6528b9d9136926060906e9ace1134491bc674a3	is used to treat different medical indications, such as multiple sclerosis, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and pain.	false
+5a62872157400aa92ecaa1e7d4c6061cbe31d24f	On the basis of intravenous pyelography the frequency of @PHENOTYPICFEATURE$ was elucidated in retrospect in 140 patients with Crohn's disease and 88 patients with @DISEASE$.	false
+3e5eb7eabf1d4fcf64497fdad038c4e06cd27a9c	@DISEASE$, status epilepticus and intractable temporal @PHENOTYPICFEATURE$.	false
+4b6c083dd3e51608b4fed5fd32d7b147f9eb7ce0	The endosonographic findings of anal @PHENOTYPICFEATURE$, malignancy, trauma, abnormalities in Crohn disease, and @DISEASE$, as well as the role for anal endosonography among other imaging modalities, are discussed.	false
+ad036fe399a29cac2490e2da00a5fab057ec92b1	@DISEASE$, @PHENOTYPICFEATURE$, and osteosclerosis.	false
+99329fa450e338088f73be75420cc1f1b07abf1c	[An autopsy case of @DISEASE$ in a 21-year-old male with @PHENOTYPICFEATURE$ (author's transl)].	false
+f3e1cbebda964a15b312509e8171c7ae38f07eee	Histologic measurements and fine structure of biopsied sural nerve: normal, and in @DISEASE$, hypertrophic neuropathy, and congenital @PHENOTYPICFEATURE$.	false
+e25cbbab73d21e40b6a43dab7482322e8f2f7308	A small number of similar cases of @DISEASE$ with various @PHENOTYPICFEATURE$ in the literature suggest that the association is not incidental, but of clinical significance.	false
+f3d76452587d42c43814f5952e2a519c3253b673	Differential diagnosis of this syndrome include other forms of neuromuscular disorders with @DISEASE$ like hereditary motor @PHENOTYPICFEATURE$ (HMSN) and distal myopathies, which need exclusion before confirming this rare entity.	false
+fd686399023f9968068a1c8bf006198c3e961161	Some of the metabolic states that have been analyzed by this technique include starvation, exercise, obesity, type I and type II diabetes mellitus, stress, hypopituitarism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8914739e95d117c3327f58d78c142bc1e0c04aab	[Acute @PHENOTYPICFEATURE$ as a first manifestation of @DISEASE$ in a pregnant woman.	false
+e55f5bd0b5c2b10fb63bcfe057cbd602f23c444f	Cardiac dysfunction associated with @DISEASE$ may lead to @PHENOTYPICFEATURE$ in some patients.	false
+eab0ebed6625b48fd5039f27ce9fa2aac095f731	[A case of myasthenia gravis associated with rheumatoid arthritis, Sj?gren's syndrome, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+be5b6ba422d42cfeb0198ac3fd537e79706901b2	[A rare form of hyperthyreosis; @PHENOTYPICFEATURE$ of the cranial vault in @DISEASE$ acromegaly (Troell-Junet's syndrome)].	false
+6c9d1578dabad68fcfc570754ad72ec8db3131ee	Catecholamines cause the @PHENOTYPICFEATURE$ and hypercalcaemia in phaeochromocytoma and in @DISEASE$.	false
+cf65f2bbced09c43da51e500d2d7162baaeeaf04	Until recently, the rare association of RTA and @DISEASE$ had been thought to be governed by nephrocalcinosis, via hypercalcemia and @PHENOTYPICFEATURE$.	false
+7c516b78e5c61e995f45f1a84a2fa71dc743ec83	Pregnancy complicated with @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+a6b7d22548289540535f9e15b432e62970be0dcf	[Acute @PHENOTYPICFEATURE$ and @DISEASE$].	false
+4069f16e1066f5c05aaf5c1a44a6a55efc4d4b59	It is generally accepted that the association between @DISEASE$ and @PHENOTYPICFEATURE$ is much more common than between myasthenia and hypothyroidism.	false
+03a2874c882aa27f14ad3708c883c6e4d6989bf8	Compared with controls, @DISEASE$ patients had less severe @PHENOTYPICFEATURE$ (P? less than ?0.01) and more severe functional impairment (P? less than ?0.01), incontinence (P? less than ?0.01), and diarrhea (P? less than ?0.01).	false
+4b9e287d513aee1d09242e7defd95624089723a3	Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C?>?T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, sensorineural hearing loss, scoliosis, @PHENOTYPICFEATURE$, and @DISEASE$ (CDI).	false
+670edceccde9c6656680596c516b8438d7072f84	He developed @DISEASE$ as a neonate, followed by interstitial @PHENOTYPICFEATURE$, anemia, and hepatosplenomegaly.	false
+f3fbb069fcde5eb29b1a6a1620e7c45cfbd52c1b	Medical history begins 5 months before with a @DISEASE$, loss of weight (5 kg at admission), @PHENOTYPICFEATURE$ and asthenia.	false
+0cd1e33626688efeaea9b22bc581baf5f3038af3	We report a patient with combined WAGR and @DISEASE$, and @PHENOTYPICFEATURE$.	false
+38ba10e6fc65eb63e545a254ffcb536ed686a0b7	@DISEASE$ correlated positively (P less than 0.05) with diabetic macrovascular complications in total (myocardial infarction, ischemic heart disease, arterial @PHENOTYPICFEATURE$, cerebrovascular stroke, gangrene/amputation), neuropathy and severe microvascular complications (proliferative retinopathy, retinovascular occlusion).	false
+15e255f4495d10f01a4c53fcc1a9a1e422fc0ec5	were Grade 3; and 4 (6.0%) were Grade 4. Higher grade radiation severity correlated significantly with duration of follow-up (P < 0.02); younger age (P = 0.035); worse visual acuity (P = 0.001); @PHENOTYPICFEATURE$ or atrophy on optical coherence tomography (P < 0.0001); and @DISEASE$ (P = 0.003).	false
+af0a0e658e2ff41b1355a1b22e8103d374a9d71a	Neurological complications of @DISEASE$ commonly were cranial nerve palsies, seizures, aseptic meningoencephalitis, @PHENOTYPICFEATURE$ and Miller-Fisher syndrome.	false
+e7b7ca20de1f1bb80dd882d6fd83152b5673712d	Cultivation and characterization of BALB-@DISEASE$3H mammary @PHENOTYPICFEATURE$ cell lines.	false
+810d3dd829047306f7880ffd2b17b5b03e33c386	Similarities in drug sensitivity profiles for parent xenograft CFC and derived cell lines suggest that, despite poor reproducibility, repetitive assays using melanoma @DISEASE$ accurately reflect some properties of cells which sustain @PHENOTYPICFEATURE$ cell growth.	false
+41dd0b2b19fc2b3f32a684aba57b5335d1be404f	Three @PHENOTYPICFEATURE$ cell subpopulation lines derived from a single, spontaneously occurring BALB/@DISEASE$3H mammary tumor were evaluated for their ability to cause a leukemoid effect in mice.	false
+5a8d5a8e597a5925c159d39245ba56e57361286c	Three tumor cell subpopulation lines derived from a single, spontaneously occurring BALB/@DISEASE$3H mammary @PHENOTYPICFEATURE$ were evaluated for their ability to cause a leukemoid effect in mice.	false
+d0f1b709c7e3892955d3d9d87b6e728d7cf9841c	While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid @PHENOTYPICFEATURE$ reported in a patient with @DISEASE$.	false
+76422482df45772684b11fe0b189e5634a0d0b68	While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with @DISEASE$, making this the first case of a solid @PHENOTYPICFEATURE$ reported in a patient with CFC.	false
+14d4a7db9e7e0366f6a71e3af81c79ca1d6444a4	Importantly, MMTV RNA was not detected in 5 of 27 BALB/@DISEASE$3H @PHENOTYPICFEATURE$.	false
+0eb3d8e16d093923b65513f8dea07283baf24c9a	Increased understanding of how the molecular pathways with which defects in @DISEASE$ predispose affected individuals to hemangiomas might offer insights into the pathogenesis of this common childhood @PHENOTYPICFEATURE$ in the general population.	false
+d4a8e35ff5f9ae8773248720fd63a0718539681e	All cases were matched with the evaluation and treatment records of the statewide Children's Medical Services' (CMS) craniofacial centers (@DISEASE$) and @PHENOTYPICFEATURE$ clinics (CPC).	false
+c08a1fa477ad60bf8e96b5000efff45a3f27bbb9	Somatic KRAS mutations are often detected in patients with solid and non-solid @PHENOTYPICFEATURE$, whereas germline KRAS mutations are implicated in patients with the Noonan syndrome, cardio-facio-cutaneous (@DISEASE$) syndrome and Costello syndrome.	false
+815dace6ade368040cb927345744f1a0aa45f88a	Of nine patients analyzed, three demonstrated detectable @DISEASE$ responses to @PHENOTYPICFEATURE$ immunoglobulin and/or keyhole limpet hemocyanin (KLH) after vaccination.	false
+a26c4fa07958398752214c92306027a4b97b5ea7	In 75% of C3H mammary tumors, int-1 is rearranged by MMTV insertion, whereas only 30% of BALB/@DISEASE$3H @PHENOTYPICFEATURE$ contain a virus-induced rearrangement of int-1.	false
+15b8043dc9333f265c624967d70b05677b72d897	In 75% of C3H mammary @PHENOTYPICFEATURE$, int-1 is rearranged by MMTV insertion, whereas only 30% of BALB/@DISEASE$3H tumors contain a virus-induced rearrangement of int-1.	false
+9fd5f74c1d28af03a2fb9216da2e0f7c66ee99b0	Within the last year, studies of @DISEASE$, another @PHENOTYPICFEATURE$ disorder long associated with mitochondrial dysfunction, have shown that PGC-1? dysregulation is contributing to its pathogenesis.	false
+54adb3a935566a7f9854019a4682ab8d2ee5c6be	After 2-h-oral-glucose-tolerance-test, the prevalence of glucose @PHENOTYPICFEATURE$ was significantly higher in group with @DISEASE$ and dementia group (p=0.03).	false
+35e646365c87d7f1cb36792efc9dea0c3498d03b	A newly discovered neurotoxin ADTIQ associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d28536ea2a99f2105d4f71326b909d65332649bb	Importantly, a common gene network was identified among HIV infection, Alzheimer's disease, @DISEASE$, multiple sclerosis, and age @PHENOTYPICFEATURE$.	false
+ede6298951a884be9630caaa90040939b38a2a8a	The most common age-related conditions are neurodegenerative disorders such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+da57ed4fcb942b8cc1f78215fd03e66c9db8d2b8	Camptocormia is a rare, @PHENOTYPICFEATURE$ disorder, presenting as truncal flexion while standing or walking, and is mainly observed as a feature of @DISEASE$ (PD) and primary dystonia.	false
+e18f6d6b2e70e10eb2d5a1b750c2f590909f6a2a	Patients with @DISEASE$ (PD) have a high prevalence of glucose @PHENOTYPICFEATURE$.	false
+d7bcfb5ef212120ab13d0fff88fe7802b81d55b8	L-DOPA, the most effective drug to treat motor symptoms of @DISEASE$, causes abnormal @PHENOTYPICFEATURE$, limiting its use in advanced stages of the disease.	false
+7c343011af5905bb3f251e76be81d4192b69ae9e	Diseases in which such "combination" therapy might lessen the rate of decline include Alzheimer's disease, @DISEASE$, multiple sclerosis, @PHENOTYPICFEATURE$, and diabetes.	false
+d13efdc72134bd64b10888e5276bb6896e1c89c5	[Subclinical @PHENOTYPICFEATURE$ in @DISEASE$ (author's transl)].	false
+de19cc728036b1b03d1222ff7607e3b5192f70a4	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, @DISEASE$ and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+ecbab8ad05fc96673742f4635fd7c39e9a66e3f6	Pretransplant evaluation of the donors may include an angiography to evaluate the renal arteries, and failure to recognize renal arterial stenosis, particularly @DISEASE$, by noninvasive methods may eventually lead to hypertension and ischemic @PHENOTYPICFEATURE$.	false
+5656b71d5ae4fafb1af48f585bb728fd34d32ba2	These include renal artery aneurysm (RAA), @DISEASE$ (FMD), renal nutcracker syndrome (RNS), renal arteriovenous malformation, renal @PHENOTYPICFEATURE$, and renal artery or vein thrombosis.	false
+ba4c583b6716cb139d5ecffe4373ecee860a5e08	Renal atherosclerosis and @DISEASE$ are the most common causes of curable human renovascular hypertension and @PHENOTYPICFEATURE$.	false
+256d6e8f15d27aa3856716084a79f5e33320e897	[@DISEASE$ of the internal carotid artery as a cause of transient @PHENOTYPICFEATURE$ episodes].	false
+c22b3adf06add0d63b33e2093dd1ca134efc6c4c	Successful renal autotransplantation for @PHENOTYPICFEATURE$ with prolonged oliguria in a Jehovah's Witness with @DISEASE$ of the renal arteries.	false
+abb7041c662329c99112821ed0aa15ee26c687e2	Renal artery stenosis comprises both atherosclerotic renovascular disease and @DISEASE$, and may be associated with refractory hypertension, acute 'flash' pulmonary oedema and @PHENOTYPICFEATURE$.	false
+45a414728cf9d8a4e3dc66f7742e074c04ca47d6	Renal artery stenosis may be caused by either atherosclerosis or @DISEASE$, and is responsible for hypertension or @PHENOTYPICFEATURE$.	false
+a62e68ec09720cdb6592d77ffcae707b312f0711	A 3-year-old Caucasian girl with @DISEASE$ and infantile myofibromatosis presented with arterial hypertension and @PHENOTYPICFEATURE$.	false
+0981253cbe0bd90556149d2a633781f6d161a787	All patients with @DISEASE$ (group A) had normal renal function, while 27 of the 62 patients with atherosclerosis (group B) presented with various degrees of @PHENOTYPICFEATURE$.	false
+8b989dd3cb5d6544242419e6ebea505655e17808	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$.	false
+4b1fcb56f3d08ceb4256207f41cd583b801ee9a0	@DISEASE$ (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+dd2332711afcd93f5a435486889795d38230c01a	@PHENOTYPICFEATURE$ and @DISEASE$ are the commonest triggers of ES.	false
+04212a8bd7e5e4cf0d647352ba71cc1d62cea669	In this cohort of ACS, BB therapy before admission for @DISEASE$ is associated with decreased in-hospital mortality and major cardiovascular events, and 1-year mortality in patients without HF or @PHENOTYPICFEATURE$ if still prescribed on discharge.	false
+e1eb5d49f37bd8768c5976313759e7d603fc9125	The prognostic impact of ?-blockers (BB) in acute coronary syndrome (@DISEASE$) patients without heart failure (HF) or @PHENOTYPICFEATURE$ is controversial, especially in the postreperfusion era.	false
+8730bc44dc5e4946d98246f9ce7a0d5842f806bb	The prognostic impact of ?-blockers (BB) in acute coronary syndrome (@DISEASE$) patients without @PHENOTYPICFEATURE$ (HF) or left ventricular dysfunction is controversial, especially in the postreperfusion era.	false
+eddb28135a8cd5c00bd02740eeb619c4d70c1e88	The constellation of advanced cardiac life support (@DISEASE$) events, such as gas embolism, local anesthetic overdose, and spinal @PHENOTYPICFEATURE$, in the perioperative setting differs from events in the pre-hospital arena.	false
+93146637a9debd74258080de85e307491b3df2b8	Auriculocondylar syndrome (@DISEASE$) is a rare craniofacial disorder with @PHENOTYPICFEATURE$ and question-mark ears (QMEs) as major features.	false
+3fdbfd572846a4c1bed7940e3610e8be2c66f395	Although the incidence of VAs has declined in the hospital phase of acute coronary syndromes (@DISEASE$), mainly due to prompt revascularization and optimal medical therapy, still up to 6% patients with ACS develop ventricular tachycardia and/or @PHENOTYPICFEATURE$ within the first hours of ACS symptoms.	false
+eac8a5b90270e38cde8626e66e88b6f0adb1d1df	Although the incidence of VAs has declined in the hospital phase of acute coronary syndromes (ACS), mainly due to prompt revascularization and optimal medical therapy, still up to 6% patients with ACS develop ventricular tachycardia and/or @PHENOTYPICFEATURE$ within the first hours of @DISEASE$ symptoms.	false
+c84dbfa839bf49cf8d78a7fd6bd349d5ee169e4a	Although the incidence of VAs has declined in the hospital phase of acute coronary syndromes (ACS), mainly due to prompt revascularization and optimal medical therapy, still up to 6% patients with @DISEASE$ develop ventricular tachycardia and/or @PHENOTYPICFEATURE$ within the first hours of ACS symptoms.	false
+e98ea68c0f0163ca4dcda73dea21a2edc7575211	Intracranial @DISEASE$ might become a valuable treatment option for severe intractable @PHENOTYPICFEATURE$.	false
+9733e56a0463583cfcf5e3a6d21a06eb67ad6345	This patient had characteristics of the @DISEASE$ but also had a severe @PHENOTYPICFEATURE$ and other visceral malformations.	false
+6d72caf6da5ec7fbe43d51c5a2b812327dbf73eb	Incidence of sinus tachycardia, atrial flutter/atrial fibrillation were significantly higher while incidence of ventricular tachycardia, @PHENOTYPICFEATURE$, paroxysmal supraventricular tachycardia were significantly lower in young @DISEASE$ patients than in middle-aged ACS patients (all P < 0.05).	false
+f04c1007a5ad3a1dbd9c28a996c2be90100ef04c	Incidence of sinus tachycardia, atrial flutter/atrial fibrillation were significantly higher while incidence of ventricular tachycardia, @PHENOTYPICFEATURE$, paroxysmal supraventricular tachycardia were significantly lower in young ACS patients than in middle-aged @DISEASE$ patients (all P < 0.05).	false
+e8ce502e1e99ef647cba765b9b7db6d8d377678e	We enrolled 154 consecutive @DISEASE$ patients without @PHENOTYPICFEATURE$.	false
+7ffb6a39d9fb51dd645dc261e1bff9accfd3a397	Among the cases of fetal malformation, the following malformations were observed to occur at a higher rate of incidence: acephalia, exencephaly, cerebral @PHENOTYPICFEATURE$, open eyelid, cleft palate, micromelia, ankylosis of the extremity, @DISEASE$ and skeletal anomalies.	false
+d2437eb5b8c7d7aa284945985138c0fe913abd2d	In sonography, the fetus showed multiple anomalies: bilateral overt @PHENOTYPICFEATURE$ in the brain, ventricular septal defect and valve anomaly in the heart, bilateral @DISEASE$, polydactyly, meningocele, and a single umbilical artery.	false
+0a41da5cdff400f1e99547dea04c07fc2e74cdd0	We describe a patient affected by @DISEASE$ (CIDP) whose sural nerve biopsy revealed a marked @PHENOTYPICFEATURE$ of the myelin sheath.	false
+f889a76b7e4a8c6fb5853ada252f546cb4d83a41	Intramyelinic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+01cabaa252e46ba1cfc43cadbb3d2baab99555d8	The very mild degree of sensory fiber involvement, the absence of inflammation or @PHENOTYPICFEATURE$, and the distinctive clinical features support the concept of multifocal motor neuropathy as distinct from @DISEASE$.	false
+19922c1a230a146a6acbaa5e29503c3f94f4ceb9	RAB40AL has been reported as the locus for @DISEASE$ (MPS), an X-linked @PHENOTYPICFEATURE$-intellectual disability syndrome.	false
+9fd291c3e1e0e7def765ca289ae1cc61f7aadec8	@DISEASE$ (MPS) is a rare X-linked disorder characterised by @PHENOTYPICFEATURE$, cognitive impairment, short stature and distinct craniofacial dysmorphisms, among other features.	false
+d52917c5fddfefa3fd70075e6e7630b1cab03540	Eighteen had @PHENOTYPICFEATURE$, 6 had @DISEASE$ and two had cerebral palsy.	false
+bead8451d8e0d076e9b557ec0ba8d6f78a9d279b	Friedreich's @PHENOTYPICFEATURE$ mimicking @DISEASE$.	false
+a2911be71668bbf77b3fda5654404aec3b903b89	Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause @PHENOTYPICFEATURE$ with lower extremity predominance, @DISEASE$ and intellectual disability.	false
+69b9a734f8293c204d727d009f4e7bc7e47f43da	Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+72b0a14adda2e34c95c298468de78702f08277af	Coexistence of @DISEASE$ type Ia and IgM @PHENOTYPICFEATURE$ neuropathy.	false
+e0fd384a7841869cfaf7fcda1473c40de9db11b7	A case of Charcot-Marie-Tooth disease mimicking Friedreich's @PHENOTYPICFEATURE$: is there any association between friedreich's ataxia and @DISEASE$?	false
+630d00dadd21f68bf4c33397421a6a36a4e01690	A case of @DISEASE$ mimicking Friedreich's ataxia: is there any association between friedreich's @PHENOTYPICFEATURE$ and Charcot-Marie-Tooth disease?	false
+a86997055ab78e54757b374882abcae6d84a7436	A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's @PHENOTYPICFEATURE$ and @DISEASE$?	false
+7390f467c78c6f3cacaf3225d910ca2a46c738ae	A case of @DISEASE$ mimicking Friedreich's @PHENOTYPICFEATURE$: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease?	false
+f4784395eedb04d0ec0959dd5249865a54a094d0	Charcot-Marie-Tooth (@DISEASE$) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and @PHENOTYPICFEATURE$, and electrophysiological changes.	false
+46617312487083c3a40bc03e2d2427573b615265	Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of @DISEASE$ characterized by muscle weakness and wasting, foot and @PHENOTYPICFEATURE$, and electrophysiological changes.	false
+6bf364c0e7cd1ee05369ba45d6923c78e9a0e78a	[Clinical and electrophysiological comparative study of @DISEASE$ and Friedreich @PHENOTYPICFEATURE$].	false
+556b5b05020abf28184eb392f861c946b707b277	[Friedreich's @PHENOTYPICFEATURE$ with peripheral nerve involvement resembling @DISEASE$].	false
+31ea33d3580534a85525ea1feef1938f3abf3fc7	Association of Friedreich's ataxia and @DISEASE$ (familial @PHENOTYPICFEATURE$ with atrophy).	false
+5ec1474c342d3b9dc249f6391fc7fd918f618113	Association of Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$ (familial ataxia with atrophy).	false
+56d4d0c887dc92bc92892225a0f11820d77ff2a5	@PHENOTYPICFEATURE$ dystrophica with @DISEASE$.	false
+723eac68c247c1ecbff8ed8668fdb1a3cd031744	[Type II @DISEASE$ combined with a @PHENOTYPICFEATURE$].	false
+eb1d1c4c0312af90df74b5f799ab5fd97c4b87c3	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and @DISEASE$.	false
+fdacea4eef7165639efec823c8f1765202cd7a21	[@DISEASE$ associated with marked @PHENOTYPICFEATURE$ and hypercapnia].	false
+a26ac6691094a204efad166d6352453899eb31e7	On the one hand, this child, aside from @DISEASE$, is carrier of an exceptional ailment: @PHENOTYPICFEATURE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+674af47bde9607e77ee1c21081f6796bd039ad89	Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, @DISEASE$, motor disabilities, central hypoventilation, carotid artery, and/or @PHENOTYPICFEATURE$.	false
+b919874b7d1a093d975edefcbda08c5c4709295a	Limited horizontal gaze and @PHENOTYPICFEATURE$ are the most common features; affected individuals can also have facial weakness, mental retardation, @DISEASE$, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects.	false
+b5fd19b31d976d8e61359a50ebc8201c56055c17	@PHENOTYPICFEATURE$ in schizophrenia and @DISEASE$.	false
+7ab2b50fc1d36784ce95844260fdda233d5f3f7b	This association is discussed in terms of a clinical and aetiological relation between @DISEASE$ disorder and @PHENOTYPICFEATURE$.	false
+dd2d71e249905fb3f7ba1fc60d73a8a984069d53	A rare association between @DISEASE$ and microscopic @PHENOTYPICFEATURE$ colitis in 2 children is reported through retrospective chart review.	false
+515d87e9c448dcefb99d3f24a890f9ae64eefd79	Assessment of @DISEASE$ in children with @PHENOTYPICFEATURE$.	false
+ea46ec9ecb220482d9efa35c56f77702a5ea079c	@PHENOTYPICFEATURE$ and traits of @DISEASE$ in children.	false
+bd0f2dbe1ab5a4b6cde6a24937cee694e7b306ff	The aim of this report is to highlight an association between @DISEASE$ and microscopic @PHENOTYPICFEATURE$ colitis in 2 children.	false
+4ae1d790fd594bb3ffef416f6301b92fa2a8e64e	Although atypical eye gaze is commonly observed in @DISEASE$, little is known about underlying @PHENOTYPICFEATURE$.	false
+8cffec479393837e5c4c1140932f7d45ae3f2140	Reversal of @PHENOTYPICFEATURE$ and developmental delay after cure of @DISEASE$.	false
+f1caad1938d5a5b6090e5af8fc5c62fc69e3bf40	[Children with @DISEASE$ and @PHENOTYPICFEATURE$--a multifaceted group of problems].	false
+41e41dbe526605fce29432d89ac8d8efb2895889	Interhemispheric transfer was examined in 13 normal controls and in 13 children with @DISEASE$ and partial agenesis of the corpus callosum involving a missing splenium associated with spina bifida @PHENOTYPICFEATURE$ and aqueductal stenosis.	false
+df372f61b6216adce8bc7cf06d347d84f8082182	Interhemispheric transfer was examined in 13 normal controls and in 13 children with @DISEASE$ and partial agenesis of the corpus callosum involving a missing splenium associated with @PHENOTYPICFEATURE$ meningomyelocele and aqueductal stenosis.	false
+de84ff8fe311ea2fc4f50311aedf590287522b6e	Irreversible final disturbances were lasting mental defects, cerebellar @PHENOTYPICFEATURE$, ataxia, and @DISEASE$.	false
+0da602ed12e926c6fb621fd480985144ca8a8f20	Irreversible final disturbances were lasting mental defects, cerebellar dysarthria, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8813830af9c25a70dc0533d1bd18385cb52a9bb7	mean control values of enzyme activity (n?=?14) presented earlier and with a pattern of feeding problems, encephalopathy, @PHENOTYPICFEATURE$, neurocognitive impairment, apnoea, @DISEASE$, microcephaly and epilepsy.	false
+26d3d1de56d43b0aab5535179ec3b360e2ce38be	mean control values of enzyme activity (n?=?14) presented earlier and with a pattern of feeding problems, @PHENOTYPICFEATURE$, muscular hypotonia, neurocognitive impairment, apnoea, @DISEASE$, microcephaly and epilepsy.	false
+12302346f8fdea18b7172cfd2ec08a49d8003e12	All five individuals exhibit similar CNS malformations consisting of a thin, @PHENOTYPICFEATURE$, and @DISEASE$ or ventriculomegaly.	false
+63c8e91dc2745829f69ac4cf3817ec822ea9e381	Postoperative @DISEASE$ @PHENOTYPICFEATURE$ occurred.	false
+32965fd9c0865077e74d0246a7a0acec341f12e0	A 7-year-old girl with @PHENOTYPICFEATURE$ developed gait disturbance; @DISEASE$ and a Dandy-Walker cyst were detected on computerized tomography.	false
+c2fea8c2699152fe32a7ced063bf70c65767cdc2	A 7-year-old girl with mental retardation developed @PHENOTYPICFEATURE$; @DISEASE$ and a Dandy-Walker cyst were detected on computerized tomography.	false
+2966bdde48758e2caf90c437b47af7b5fcd2b4eb	They all suffered from @PHENOTYPICFEATURE$ with various degrees of @DISEASE$.	false
+d37adf42c0374959317cc13cc2dcd6698859d5cc	The mutation is associated with @DISEASE$, @PHENOTYPICFEATURE$, mucus accumulation in paranasal passages, and a dramatic respiratory pathology upon allergen challenge.	false
+5695e709a0976096bbf51337c9090d829b7c17f7	Clinically, it is characterized by mental retardation, seizures, @PHENOTYPICFEATURE$ as well as symptoms of @DISEASE$.	false
+d63cc842e33268c10ba9bf31abe5296a36cfdcd9	Clinically, it is characterized by @PHENOTYPICFEATURE$, seizures, cerebellar ataxia as well as symptoms of @DISEASE$.	false
+afab16ca3d48574293b4b8e7549c3afa47425064	This approach is suited for C1, De1, De2, Di1, and @DISEASE$ @PHENOTYPICFEATURE$ according to the Fisch classification.	false
+5d0e84b6b8348df668226d92c3461e597e34e4e6	Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic @PHENOTYPICFEATURE$ (DFNB48) and @DISEASE$ (USH1J).	false
+949f724ff8dccbfa9f1265559cffb60bc1d4c3ab	Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in @DISEASE$ and non-syndromic @PHENOTYPICFEATURE$ DFNB48.	false
+52798b41fb05c3d933483a61b6c81c938d5b4d85	Menkes' steely-hair disease is characterized by abnormal @DISEASE$ metabolism accompanying progressive @PHENOTYPICFEATURE$.	false
+6279b0e47c0db246c859ea217ae4596a50ae5c0a	@DISEASE$ deficiency manifests itself as clinical disease, namely enzootic @PHENOTYPICFEATURE$ and osteochondrosis.	false
+2c7ba6834e83d8000d940696082d50cc1d74343e	Enzootic @PHENOTYPICFEATURE$ from @DISEASE$ deficiency in sheep in Colorado.	false
+d656f274cc31b7891aa9ffb4ba0e7e7246473afc	Congenital cataract, @PHENOTYPICFEATURE$, developmental delay and sensorineural hearing loss associated with a defect in @DISEASE$ metabolism.	false
+554a11a0eaf0108692c2fb4eb5e978eee0837124	@DISEASE$ deficiency in ruminants is known to cause an @PHENOTYPICFEATURE$ myelopathy.	false
+d15a1a2e6a4ebd6cc465c623dc658d6fea8a9d68	Delays in diagnosis and treatment of @DISEASE$ deficiency can leave patients with residual neurological @PHENOTYPICFEATURE$.	false
+947612b5f7a6d7a0e22ab7c9f2f72f9252ce4216	Neurological manifestations due to @DISEASE$ deficiency include @PHENOTYPICFEATURE$ myeloneuropathy that resembles subacute combined degeneration due to B12 deficiency.	false
+6a09989279e1aa67a9c2207ec2dd89e1995a987f	@DISEASE$ deficiency: a rare cause of @PHENOTYPICFEATURE$ following gastric bypass surgery.	false
+dab90eef009b85d08c0569851c861498a3ff7ba3	@PHENOTYPICFEATURE$ and myelopathy secondary to acquired @DISEASE$ deficiency are rare complications of major gastric resection.	false
+71cddd2b94ccd05da31afd91dff9d4f37b8b8e55	@DISEASE$ deficiency may produce an @PHENOTYPICFEATURE$ myelopathy.	false
+de917a59e6359481d32f9ffbad9e437f66ede235	Minichromosome maintenance 2 and 5 expressions are increased in the epithelium of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+f63b73b76cf04a31a0e4bba28880d4d6d87b4a50	@DISEASE$ (HGF) is a highly @PHENOTYPICFEATURE$ disease, and current therapeutic method is limited to surgical resection with a high recurrence rate.	false
+544a1fff36c54379b954b1258d0c4ae45c2632a8	Archived tissue specimens of @DISEASE$, gingival fibromatosis and @PHENOTYPICFEATURE$ syndrome and normal gingiva were subject to morphological analysis and immunohistochemical staining.	false
+9f8aa7a23b16b654426d7943fe7861a5c55f501d	Immunoexpression of ?2-integrin and Hsp47 in @DISEASE$ and gingival fibromatosis-associated @PHENOTYPICFEATURE$.	false
+fecdf66f49657eb6ab822c04fad4dde3f97f11f6	Immunohistochemistry was performed with antibodies against ?2-integrin and Hsp47 in specimens from two unrelated families with @DISEASE$ (Families 1 and 2) and from one family with a gingival fibromatosis-associated @PHENOTYPICFEATURE$ (Family 3); NG samples were used for comparison.	false
+b56997f0bcf59a4ee425e8c36377244f89b630fa	More than 50% of patients with @DISEASE$ had @PHENOTYPICFEATURE$ or arthritis, and less commonly other rheumatic disorders.	false
+5ec22f6f4ec59fd6c78ca31a169bd2509ae6bb24	Sixty-four patients with AR, iridogoniodysgenesis (@DISEASE$), iris hypoplasia (IH), or @PHENOTYPICFEATURE$ (ASD) were screened for PITX2 mutations by sequencing.	false
+1919c39c84ba9553bbbc0a6b182107a5a47ecb54	We postulate his negative @PHENOTYPICFEATURE$ related to a @DISEASE$ overlying the supplementary negative motor area in the mesial superior frontal gyrus, and discuss diagnostic criteria for inhibitory seizures.	false
+cdfe0c39bd59382547ffcc1171d8dc19b76588b1	@PHENOTYPICFEATURE$ were accompanied by massive arachnoidal cell hyperplasia reminiscent of @DISEASE$.	false
+4740d71a6afda038b954234bec4460408fa0216f	The causes of the syndrome included spheno-orbital @DISEASE$, optic nerve glioma, @PHENOTYPICFEATURE$ of the optic nerve, and chronic papilloedema.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+3c4256a693e9392ed5a43ac40ce21b93a280819b	The imaging demonstrated a large frontal @DISEASE$ with a significant midline shift with laboratory findings suggestive of severe hypothyroidism and myxedema @PHENOTYPICFEATURE$.	false
+82d44b90033780060e0bfd9165561da8e2721777	@PHENOTYPICFEATURE$ @DISEASE$: a case report with review of the literature.	false
+c91200c81db3e54ca23fdc510d1961aa816737e4	@PHENOTYPICFEATURE$ meningioma is an extremely rare variant of @DISEASE$ that is characterized histopathologically by the presence of tumor cells with lipid-filled vacuolated cytoplasm.	false
+9924dcff266aad80e8e5c10ec2a84c7df395a1aa	@PHENOTYPICFEATURE$ @DISEASE$ is an extremely rare variant of meningioma that is characterized histopathologically by the presence of tumor cells with lipid-filled vacuolated cytoplasm.	false
+8ac6db79da1c2ceed66dbb320ae8860492fa3ba6	@PHENOTYPICFEATURE$ @DISEASE$: A metaplastic or degenerative phenomenon?	false
+4468417dfc5ab17ae974e7421b766920a8ba03be	Atypical @DISEASE$ in the posterior fossa associated with colpocephaly and @PHENOTYPICFEATURE$.	false
+660e49d5f7d42a2c4e80b8ab74c805a4d7a41bb1	@PHENOTYPICFEATURE$ @DISEASE$ associated with therapeutic high-dose irradiation in a child has not yet been documented.	false
+8472a07d3d675dbdbe41842d50303ea61f8e87e2	Unusual features were those of @DISEASE$ and @PHENOTYPICFEATURE$, signs generally regarded as negative criteria for the diagnosis of this disease.	false
+58ed30614165116e7467f81c3a3b0dee3a4002e3	The long-term risk is @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1eb6419d42a780bc4b46520071a5fdacda35e090	Three patients each had cortical blindness, @PHENOTYPICFEATURE$, decreased visual acuity, and @DISEASE$.	false
+e97e842ff7f3ba87cc31557b4b1e3d58ea1dad15	Clinically she had @PHENOTYPICFEATURE$ and bilateral @DISEASE$.	false
+8d08e7dd1b096ffb7714385652c72f5b1b362748	Retinopathy of prematurity, @DISEASE$, and cerebral @PHENOTYPICFEATURE$ were the main diagnoses associated with visual impairment.	false
+76bcfe1f62c858252cf158fad74e2cc53deda8cc	@PHENOTYPICFEATURE$ and @DISEASE$ are two very different causes of unilateral long-standing visual impairment.	false
+be88b053ee698a73598fd884b9efa4d327ae0fa9	Cherubism, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e31bed165dd670139bf513cdd96890d40eb3e79a	Spatial contrast sensitivity was investigated in a group of 17 patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+07ea18449d0533b87a3896e0f8349eb0993ff84d	Orphan disease: Cherubism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+25665860295cbd2304d8fcb4e12cc631672a262c	Four patients had @DISEASE$ with @PHENOTYPICFEATURE$.	false
+c3303196f940df9c52ea9a6ff9864458ae6beb95	In this study, utilizing whole exome sequencing, we identified two novel splicing mutations of HIBCH (c.304+3A>G; c.1010_1011+3delTGGTA) in a Chinese patient with characterized neurodegenerative features of @DISEASE$ and bilateral @PHENOTYPICFEATURE$ which was not reported in previous studies.	false
+0a83f85e1a0769f505e313019baa760d7b648b4e	Our patients also had @PHENOTYPICFEATURE$, epilepsy, cherubism due to @DISEASE$ of the maxillae, gingival fibromatosis, hypertrichosis, and stunted growth.	false
+c7828d6e0fd6a3b3402f3ea8b6402f4c824c4af4	@DISEASE$ of the skull, with @PHENOTYPICFEATURE$ and focal electroencephalographic findings.	false
+8fcdb0ccadc84849b71587eaa88c2de508fd4b56	@DISEASE$, Paget disease and hypophosphatasia are updated, as well as atypical femoral fracture and @PHENOTYPICFEATURE$ of the jaw.	false
+7d3697ebbed86c8e55345939e7a935be8767c247	[Case of @DISEASE$ of the bones of the face and the skull associated with @PHENOTYPICFEATURE$ with epilepsy and unilateral deafness].	false
+582a18bd644bf84ef116c9d668f6a0dcac7a4a0b	The syndromes include @DISEASE$, Peutz-Jeghers syndrome, and the PTEN @PHENOTYPICFEATURE$ tumour syndrome.	false
+3f67178c4fd8644d2c8848234dcf9589d092690d	Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (@DISEASE$), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS).	false
+b94e97d0383c511bd27d3d089ff184992be2f977	Familial manifestation of hamartomatous polyps can be noted in @DISEASE$ (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS).	false
+bf9a57399058d669eeb15c38c2d01ac67e31c190	This group of syndromes includes Peutz-Jeghers, multiple @PHENOTYPICFEATURE$, @DISEASE$, Cronkhite-Canada, and Bannayan-Riley-Ruvalcaba.	false
+54f69f1ee53703a4c86757054eaaae209c277293	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, @PHENOTYPICFEATURE$, overgrowth of tubular bones, bilateral inguinal hernia, and @DISEASE$ was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+ed6c9544a3c5cd216359816dd2df3037312d5e76	Hamartomatous polyposis syndromes include @DISEASE$, Peutz-Jeghers syndrome, and Cowden syndrome, which is now included within the broader category 'PTEN (phosphatase and tensin homolog) @PHENOTYPICFEATURE$ tumour syndrome'.	false
+20f08df362b3997096f27b6af122fcc5e2b5cfdb	Endoscopic resection of a large duodenal @PHENOTYPICFEATURE$ related to SMAD4-associated @DISEASE$/hereditary hemorrhagic teleangiectasia syndrome.	false
+8ad234e5eedef73bf92a63062da62ae75228a95e	Peutz-Jeghers syndrome, @DISEASE$, and the PTEN @PHENOTYPICFEATURE$ syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum.	false
+b725513a53315331891a9e3bd1e578cd1e772c5f	There is, however, increasing recognition of syndromes, including familial adenomatous polyposis, @DISEASE$ coli, Peutz-Jeghers syndrome, and infrequent conditions, such as PTEN @PHENOTYPICFEATURE$ and hereditary mixed polyposis syndromes.	false
+879ca1188396532b7b6691a45cce526a09787d07	The tumor-like lesions include Brunner's gland @PHENOTYPICFEATURE$, myoepithelial hamartoma, and the mucosal polyps of the Peutz-Jeghers and @DISEASE$.	false
+8a1dfaf803d819779fe335e6e9f336f12970e341	The tumor-like lesions include Brunner's gland hamartoma, myoepithelial @PHENOTYPICFEATURE$, and the mucosal polyps of the Peutz-Jeghers and @DISEASE$.	false
+1f34fcf53b7765ff7cf083731238e7a1ac4ba704	Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN @PHENOTYPICFEATURE$ tumour syndrome, and @DISEASE$ will be presented in this review.	false
+c857914fd16e9b30c87c4e3e1c1f5e12d2f356c4	Muse cells efficiently home into damaged tissues and differentiate into specific cells leading to tissue regeneration and functional recovery as described in different animal disease models (i.e., fulminant hepatitis, muscle degeneration, @PHENOTYPICFEATURE$, liver cirrhosis, cerebral stroke, vitiligo, and @DISEASE$).	false
+5ce0154d3a2256d9020d34a4f8ec1fa355e4bebd	Inhibition significantly greater than with normal human sera was found with sera of patients with membranous GN, membranoproliferative GN, @DISEASE$, minimal change nephrotic syndrome, acute septicaemic glomerular diseases and systemic lupus @PHENOTYPICFEATURE$.	false
+67c94c5272ceab91c57bc3dd5694fadb498c4119	[@DISEASE$ requiring therapeutic plasma exchange due to progression to multiple organ dysfunction syndrome with predominant @PHENOTYPICFEATURE$, respiratory and renal insufficiency].	false
+f6e5b02e22b5e74a834c11e0813a77de7c9819af	Despite standard treatment of @DISEASE$, the condition had developed to renal insufficiency, bilateral fluidothorax, alveolar pulmonary edema, @PHENOTYPICFEATURE$ and hypertension.	false
+97681e122288f236176397c88631e1488f97bb39	The syndromes or conditions considered in this context include neonatal @PHENOTYPICFEATURE$, preterm birth, fetal growth restriction, maternal diabetes mellitus, thrombophilias, @DISEASE$, and fetal hydrops.	false
+93d03cfead436f9dfc3e1ecaeea351870219ca6b	Similar @PHENOTYPICFEATURE$ were found in women previously affected by @DISEASE$ and those with previous PE without HELLP.	false
+a6ab3963d7f45992690f3c64138ac8df98ddbab1	@DISEASE$ was demonstrated in 16 infants who presented with irritability (n = 7), lower @PHENOTYPICFEATURE$ (n = 2), pallor, anemia, or splenomegaly (n = 5), and a family history or fortuitous discovery (n = 2).	false
+98dae715a24e10684c123522faec88906c1fd7c4	Compared to @DISEASE$ patients without @PHENOTYPICFEATURE$ (i.e.	false
+bef96815e052a02d9845a22b76ace0ecc0fe70e1	Our results imply a possible risk of hyperlipidemia as a result of @PHENOTYPICFEATURE$ in liver in @DISEASE$ patients with FATP4 mutations who consume high-sugar diets.	false
+ad67e024f5c00fb4aacd4e2e1b08b28b25ceef4d	All clinical notes were reviewed in order to evaluate the occurrence of @PHENOTYPICFEATURE$ induced by @DISEASE$.	false
+ad15e9597e1747f1f2efd134d4a69c7251d2a26d	The documentation of @DISEASE$ induced occipital @PHENOTYPICFEATURE$ might contribute to widen the clinical and neurophysiological spectra of DS.	false
+de25cdc5fbab0ba0081da2da4ba552f2b60b81b5	Refractory hepatic hydrothorax can be controlled by @DISEASE$ in a large number of patients but its efficacy is restricted by shunt dysfunction, the risk of @PHENOTYPICFEATURE$ and by its limited effect on survival.	false
+591a0d47b9ebc0846bf8eef1ce79b6fb778cd481	Intravenous administration of the drug reduced both the severity and incidence of @PHENOTYPICFEATURE$ evoked by @DISEASE$ in epileptic chickens.	false
+d1866c80a0a1bd0d7774a848b9a88de1c469810c	These results indicate that @DISEASE$ facilitates a @PHENOTYPICFEATURE$ development in all stages of visual cortical kindling.	false
+ce85e35bb279b344454a10c7ca4982c78cd1a57a	A temporal lobectomy rendered the patient @PHENOTYPICFEATURE$-free and further EEGs with @DISEASE$ were normal.	false
+c27b6054071121d8bacded91596ccbd655a801df	Intermittent photic stimulation (@DISEASE$) may produce epileptiform discharges and @PHENOTYPICFEATURE$, most of which are generalized.	false
+e90899494e369bdeebfee092bea5d1b4f6086472	Conclusions @DISEASE$ is effective for young adults at risk of early work @PHENOTYPICFEATURE$.	false
+a93d54e424bf5646ac0535c69783aea07159f3c1	Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease @DISEASE$ (EKV) or @PHENOTYPICFEATURE$ with/without peripheral neuropathy.	false
+6cf8d6e302ee13f9f08c324840659ec245c92f7d	On the basis of the above findings, @DISEASE$ associated with @PHENOTYPICFEATURE$ was diagnosed.	false
+3b969b452dd6c3c704541f049d0f0cb293983780	[@DISEASE$ and @PHENOTYPICFEATURE$ as a possible new minor criterion].	false
+00e14fdc0a01f6782fc566476d1130494360f73c	A 28-year-old African American female with @DISEASE$ and panuveitis was administered a posterior sub-Tenon injection of triamcinolone acetonide and developed cutaneous @PHENOTYPICFEATURE$.	false
+d85b4706ea2eddc2aa06e578921a503bdd73573f	This diagnostic dilemma can be fatal to those patients with @DISEASE$ treated for pulmonary hypertension because a fatal @PHENOTYPICFEATURE$ may occur.	false
+bed14be592f6bc3fd4b0c6e70eb0d1351fd85370	We report an 8.5-year-old boy with @DISEASE$ showing primordial dwarfism, no effect of growth-hormone therapy and @PHENOTYPICFEATURE$.	false
+8ce6a011bfd0338c60e158a411e29dcaee24bfa6	In the Arthus reaction, an acute inflammatory response, neutrophil migration into tissues, @PHENOTYPICFEATURE$ formation, and hemorrhage are significantly reduced in @DISEASE$ animals.	false
+73ab15f3138b807dea99988354ef0a73b5edacaf	OCTA revealed marked @PHENOTYPICFEATURE$ in eyes with @DISEASE$ that have not been previously observed with FA alone, suggesting this is more than a disease of the retinal periphery and involves macular and deep retinal vasculature abnormalities.	false
+86ddc9c971eef21ad613bbebde5ec9e56a5a9d94	Retinal detachment with avascularity of the peripheral retina, typically associated with @DISEASE$ (FEVR), can result from mutations in KIF11, a gene recently identified to cause microcephaly, lymphedema, and chorioretinal dysplasia (MLCRD) as well as chorioretinal dysplasia, microcephaly, and @PHENOTYPICFEATURE$ (CDMMR).	false
+7cf69acf2ce82291ee3fae471013d12ec71a0fe6	Multiple mitochondrial DNA (mtDNA) deletions have been described in patients with autosomal dominant progressive external ophthalmoplegia (AD-PEO) and in autosomal recessive disorders including @DISEASE$ (MNGIE) and autosomal recessive @PHENOTYPICFEATURE$ ophthalmoplegia (ARCO).	false
+f0badf88da122f7e166e7df5d49fe20bcb91076c	@DISEASE$ is a rare autosomal recessive hereditary disorder that is characterized by having both @PHENOTYPICFEATURE$ and anhidrosis.	false
+0783acca61978db47b944f58523c7976dd113975	He was diagnosed with multiple metastatic @PHENOTYPICFEATURE$ originating from @DISEASE$.	false
+8179d62cd69b8775b97f26e64dd11196285c2ec6	This review provides insights into some of the adverse effects of BPs, such as gastric irritation, osteonecrosis of the jaw, atypical femoral fractures, @DISEASE$, atrial fibrillation, and @PHENOTYPICFEATURE$.	false
+86bce703a14ba86a644c355060fd38f4b81a4a99	Functional and @PHENOTYPICFEATURE$, social functioning, frailty and adverse health outcomes in older patients with @DISEASE$, a systematic review.	false
+03595a47d9a940f3d934622d3b9fb1706d9eb357	This study was to investigate alterations of EEG and frontal @PHENOTYPICFEATURE$ in @DISEASE$ patients complicated with depression and to assess their correlation.	false
+76a949dccf0227e8ea6dcdba5baa1a5e334d8be4	Dysphagia, weight loss, anorexia, @PHENOTYPICFEATURE$, and odynophagia are the common symptoms and signs of Iranian patients with @DISEASE$.	false
+5b2c9a82bbeb2dccedd7cf722ad4fa3467e33e84	A 58-year-old man with @DISEASE$ and nausea, @PHENOTYPICFEATURE$, and intractable hiccups.	false
+0eeedcff080bfe438a5be0d60ef3541a191fe835	Functional and @PHENOTYPICFEATURE$, depression and social isolation are prevalent in patients with @DISEASE$, and associate with adverse health outcomes.	false
+abfe0622e441b610118f5cb3caea08392fb9bc06	Predisposing conditions included inflammatory arthritis, prosthetic joints, diabetes, Human Immunodeficiency Virus (HIV) infection, @PHENOTYPICFEATURE$ C, hemodialysis, @DISEASE$, valve replacements, alcoholism and Intravenous (IV) drug use.	false
+f7509005b23949467bc70b4f2296b59ec738cf4f	Human @DISEASE$, @PHENOTYPICFEATURE$, colon cancer and liver cancer are common gastrointestinal malignant carcinomas in the world.	false
+31765f734dcdc2eeb20bf2d43b102b93c1814f9d	Among these ribose conjugates, four ribose conjugates increased more than two folds in both gastric cancer and @DISEASE$; three ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and lymphoma; one ribose conjugate increased more than two folds in both esophagus cancer and lymphoma.	false
+db9e99d12fd776dd4d00ca8f197ef672911a24d1	Among these ribose conjugates, four ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and esophagus cancer; three ribose conjugates increased more than two folds in both gastric cancer and lymphoma; one ribose conjugate increased more than two folds in both @DISEASE$ and lymphoma.	false
+ec7508f4ec419b8475b105f9eb6108dc5c6e8f78	Among these ribose conjugates, four ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and @DISEASE$; three ribose conjugates increased more than two folds in both gastric cancer and lymphoma; one ribose conjugate increased more than two folds in both esophagus cancer and lymphoma.	false
+4021102eab6a58a36ac9ef734d6bc65df8a23f3e	Among these ribose conjugates, four ribose conjugates increased more than two folds in both gastric cancer and esophagus cancer; three ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and lymphoma; one ribose conjugate increased more than two folds in both @DISEASE$ and lymphoma.	false
+c1ff4a45cb680397f365805767b97cdc9b7fd64b	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous @PHENOTYPICFEATURE$ (2), tuberous sclerosis complex (2), pigmentary mosaicism (1), and @DISEASE$ (1).	false
+970d18d7dc13e489d03ed2ba134a3bc8ab263371	Many clinical and biological criteria leads to the diagnosis of type 2 @DISEASE$: consanguineous family, recurrent infection, absence of psychomotor retardation, oculocutaneous @PHENOTYPICFEATURE$, silver hair, occurrence of hemophagocytic syndrome and especially the pathognomonic appearance on microscopic examination of the hair.	false
+50b11a1a39ef27ae66cb503af6c607bfbcb934ab	Interestingly, the observed phenotypic effect (that is, perinuclear accumulation of melanosomes) is the same as that seen in melanocytes from patients with human @DISEASE$ causing @PHENOTYPICFEATURE$.	false
+1d333865d243c6e7ddcce6076967de7b1121b41d	Mutations in the slac2-a/mlph gene cause the @PHENOTYPICFEATURE$ (i.e., perinuclear melanosome aggregation in melanocytes) in human @DISEASE$ type III and in leaden mice because of the inability to form the tripartite protein complex consisting of Rab27A, Slac2-a, and myosin Va.	false
+1e374b25a1cb8e3717d0c52171ab92ea96ac0078	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and @DISEASE$.	false
+d6a6caf7e0f76424ee9eac5d84816bd2956d39a0	@DISEASE$ is a pathological condition with immunodeficiency and is characterised by hepatosplenomegaly, silvery hair, @PHENOTYPICFEATURE$, hypogammaglobulinemia and pancytopenia.	false
+b15d728010243fadb7145cc09c3c4b100e6711c3	The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, @PHENOTYPICFEATURE$, @DISEASE$, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.	false
+8eee5cdc45891fd8433b1faa33de42b3b252c957	These disorders are represented by oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, @DISEASE$, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH.	false
+76432c32f369d5223a4d51a5ec3d2695544f673e	@DISEASE$ (GS) was diagnosed in a 2-year-old patient with oculocutaneous @PHENOTYPICFEATURE$ and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous mutation.	false
+754ec0966f96025379b569f0b27df72ec95cd159	@DISEASE$ is a rare genetic immunodeficiency disorder characterized by pigment dilution, recurrent cutaneous and pulmonary infections, @PHENOTYPICFEATURE$, hypogammaglobulinemia, and defective cell-mediated immunity.	false
+7a9b5dd8e113eef5dee373a7669f2b4bb675f86f	Here, we report a patient with wide spread @DISEASE$ who had an exceptional response to treatment with ipilimumab and nivolumab, but suffered severe immune-related sequelae, including central serous retinopathy with retinal detachment, @PHENOTYPICFEATURE$, and vitiligo resembling Vogt-Koyanagi-Harada disease, and refractory enteritis.	false
+8557e38bfd61b7b42a7fea3780664e6e16791094	Patients with @DISEASE$19 @PHENOTYPICFEATURE$ displayed relatively better OS (median: 45.3 vs 33.3 months, respectively) than those with L858R (31.4 vs 28.9 months, respectively).	false
+3f9d21f9c73f462bdc2e263ade3762be017f1469	@DISEASE$ @PHENOTYPICFEATURE$ dose can be assessed by PET and significantly impacts treatment response in HCC.	false
+c463a4ef615b5f7a7a135adbe8f3a02ad0551312	@DISEASE$ @PHENOTYPICFEATURE$ doses were 40 to 60 Gy in 5 to 7 weeks.	false
+aebc227470c897c246d2b00a02068c94bcd9fef9	An alternative and more physiological approach is to develop vaccines that @DISEASE$ @PHENOTYPICFEATURE$ antigen for in vivo uptake and presentation by the DC.	false
+abe1ca54ae2ddeab42d8a7b9150ceb666af258a4	Adoptive cell therapy using dendritic cells (DCs) is a strategy to @DISEASE$ @PHENOTYPICFEATURE$ antigens in cancer immunotherapy.	false
+61f64a87899e4aa2f86362510ac978fc31bfc910	Progress has been made recently in developing antibody-drug conjugates (ADCs) that can selectively @DISEASE$ cancer drugs to @PHENOTYPICFEATURE$ cells.	false
+fcc232f744527d26f2abb7e389135557a4bd5fd5	The finding that the Dis1@DISEASE$1p @PHENOTYPICFEATURE$ were frequent in MS- but not in MS+ tumors suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+2e5404c6f11f73bfec806565e56bbd1f247ce957	The finding that the Dis1@DISEASE$1p tumors were frequent in MS- but not in MS+ @PHENOTYPICFEATURE$ suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+15c7978ab5106c2c6c9cb083dd71deedf31e5063	In real-world clinical practice, sequential afatinib and osimertinib facilitates prolonged, chemotherapy-free treatment in patients with T790M acquired resistance, and is a potentially attractive strategy, especially for @DISEASE$19-positive @PHENOTYPICFEATURE$.	false
+f06e468933916885c23420ec635f96e6b8a2fe49	@DISEASE$ @PHENOTYPICFEATURE$ absorbed doses were derived from these measurements for head and neck, pelvis and breast treatments.	false
+646d2b3d01385eb8cac75eb5139b9e49f86dda3d	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this @PHENOTYPICFEATURE$-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+86e93dec75cd2104cd99482b58e3fb53fb15daad	That a @PHENOTYPICFEATURE$ can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+1a050d5c3c32d7d2cc23ef73b370c3a19832b425	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term @PHENOTYPICFEATURE$ suppression.	false
+bc4a3ec08c43dcfdfea4031af0a519075de68f79	An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8529fac9f4e1a3fa9b6ee3a0b5ecfed669e5a39b	rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially @DISEASE$), seizures, @PHENOTYPICFEATURE$, dysmorphic features, and abnormal head size.	false
+3cac16b122f962621e1cd2a76d8dbb761fb1d0db	rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially @DISEASE$), seizures, obesity, dysmorphic features, and @PHENOTYPICFEATURE$ size.	false
+307eb67150ac0736f79ee94022b2446c5ccd3fc1	@DISEASE$, binge eating, and @PHENOTYPICFEATURE$.	false
+91d0f35ea36b519f1f584f06bb23a82e3116829f	Links between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a5f00f553d00e51d565ab20483cf8136e70f33bd	Differential @PHENOTYPICFEATURE$ and body of the caudate nucleus in @DISEASE$.	false
+bac2c92144ed64e5e506e6bdc0f6d75edba4b0b5	Attention processes in children with shunted @PHENOTYPICFEATURE$ versus @DISEASE$.	false
+cb492ce980dfcc644b5102454692981a0a21c883	Cardiac @PHENOTYPICFEATURE$ and arterial stiffness among children and adolescents with @DISEASE$ treated with stimulants.	false
+725f98671031138374e7c2355d936bbd36fea776	To elevate our detection rate, we selected the sporadic patients who had additional clinical features including intellectual disability, seizure, @DISEASE$, and @PHENOTYPICFEATURE$ circumference.	false
+fa784bc6903d98bdf34dfd3f4eee554a33dc704a	Childhood @PHENOTYPICFEATURE$ is associated with various emotional, behavioural and cognitive dysfunctions as well as with psychiatric and neurodevelopmental disorders: anxiety, depression, @DISEASE$ and psychosis.	false
+a91378b250daad7e43b5feaff5a6440fcdf71a91	Factors related to pediatric @PHENOTYPICFEATURE$-hypopnea syndrome in children with @DISEASE$ in different age groups.	false
+96ae03c20057b6c805e54278917456e3d1237de6	However, clinical phenotypes differed markedly as the elder with sensorimotor @PHENOTYPICFEATURE$ had still unaffected respiratory function at 4.5 years, whereas the younger presented as @DISEASE$ and died from relentless respiratory failure at 11 months.	false
+f526004b4c2dfe3a254df79c004f2696ebbf1aa2	Microdissection study of the myenteric plexus in acardia, ataxia-telangiectasia, cystic fibrosis, extrahepatic @PHENOTYPICFEATURE$, pediatric AIDS and @DISEASE$.	false
+f4f61b9c7d5e4e4b2da2b566a37b17ff1521829c	Statistically abnormal values included low values for small intestine and colon in @DISEASE$, high values for small intestine and colon in @PHENOTYPICFEATURE$, and high value for colon but a low value for small intestine in cystic fibrosis.	false
+60dfee17414e91269756b1723c2c5a78697e7cfe	Microdissection-point count morphometric study of the myenteric (Auerbach) plexus or esophagus, small intestine, and colon was done for infants and children with acardia (2), ataxia-telangiectasia (5), cystic fibrosis of the pancreas (CFP) (25), extrahepatic @PHENOTYPICFEATURE$ (EBA) (17), pediatric AIDS (10), and @DISEASE$ (WHD) (8).	false
+46aae5c5ee52e6453cf2e5c2d49ec2975f83b226	Patients with @DISEASE$ frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and @PHENOTYPICFEATURE$, abdominal pain, distension, and chronic constipation.	false
+2d99a24d674dfb56b07b6ae5a5cb48db11eac75f	Patients with @DISEASE$ frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, @PHENOTYPICFEATURE$, distension, and chronic constipation.	false
+9bee684037d0e6e645d39195946191b756f565ab	The @DISEASE$ (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, @PHENOTYPICFEATURE$, thin lips, absent permanent dentition and microcephaly.	false
+1088b0927d643aa1b98b689c05bba8830f81bdb2	The Johanson-Blizzard Syndrome (@DISEASE$) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, @PHENOTYPICFEATURE$, thin lips, absent permanent dentition and microcephaly.	false
+0de155256227866310ba768bf2de1f1425f33ad4	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.	false
+581e2c1bb7bea82cccfa3d141876e3e9d7aa98c0	@DISEASE$ (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, @PHENOTYPICFEATURE$, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus.	false
+dd899ddefefcb1e78f60733b5a9d596fbbe7b088	@DISEASE$ is an autosomal recessive condition characterized by hypoplastic alae nasi, scalp defect, @PHENOTYPICFEATURE$ and pancreatic insufficiency with malabsorption.	false
+74ababa94b79d0a337d41073ba37bcc87f33c2f8	@DISEASE$ is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, @PHENOTYPICFEATURE$, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness.	false
+b32ea60b5af9bf75f6c1ca2fee0381b8944ec905	@DISEASE$ is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and @PHENOTYPICFEATURE$.	false
+e85e64a2abd91d6f50c71a9ad502b7c589bc1154	@DISEASE$ (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early @PHENOTYPICFEATURE$.	false
+6a6c739845dcd6977ece945b055b0761c0d01761	Johanson-Blizzard syndrome (@DISEASE$) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early @PHENOTYPICFEATURE$.	false
+5d31f6e7d19f022c94695786cbf97155c097c087	Exocrine pancreatic insufficiency is one of the recognised features of the @DISEASE$; other features include hypothyroidism, sensorineural deafness, aplastic alae nasi, developmental delay, and @PHENOTYPICFEATURE$.	false
+20b9ae70be896553ad47f5606b5d4a0b6d7c9a6d	@DISEASE$ is a rare autosomal-recessive congenital disorder characterized by hypoplastic nasal alae, midline scalp defects, @PHENOTYPICFEATURE$, microcephaly, hypothyroidism, absent permanent teeth, malabsorption, and failure to thrive.	false
+83074536c7c8573fde0976b3629823759ff70c20	Johanson Blizzard syndrome (@DISEASE$) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, @PHENOTYPICFEATURE$, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+662ae1d48f25403a6d2df1ee63eaf1058ccc180e	@DISEASE$ (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, @PHENOTYPICFEATURE$, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+048edab08a3a6b0b89f4200e73e28dfefcf39c53	@DISEASE$ (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, @PHENOTYPICFEATURE$, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+69b116933f5a4532ab01230bafb3b22d1697ffc3	Johanson Blizzard syndrome (@DISEASE$) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, @PHENOTYPICFEATURE$, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, caf?-au-lait spots and absent of permanent teeth.	false
+eb750361f8ebaf556829a5ba83ed381e57303469	Rapp-Hodgkin syndrome (@DISEASE$) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/@PHENOTYPICFEATURE$.	false
+ce5582988a292497f7e351adf9e7f4f229beff4a	Histologically, the HS and @DISEASE$ were caused by @PHENOTYPICFEATURE$ extension, necrosis, and/or hemorrhage of the pulmonary parenchyma.	false
+a1de7ffb5752964c09090983633c8a1ccb131bf2	Deficiencies within the trans-sulfuration pathway induces (i) the generation of reactive species of oxygen (ROS) and halogens (@DISEASE$), (ii) homocyst(e)ine accumulation, and (iii) the synthesis of proinflammatory molecules by macrophages, and contribute to humans pathologies like atherosclerosis and @PHENOTYPICFEATURE$ development.	false
+fba93949b087356e75e5a3aa41eda9d071fec51f	Reactive haemophagocytic syndrome (@DISEASE$) is a disorder characterized by systemic proliferation of non-malignant histiocytes occurring most commonly in patients with pre-existing immunological abnormalities or @PHENOTYPICFEATURE$.	false
+aa32248bea626362220d6e613b0e3279000eb52c	Independent predictors of @DISEASE$ were chronic kidney disease and pulmonary @PHENOTYPICFEATURE$.	false
+16a47f517dc44adfe00571f04fd34073ecf43a60	This paper summarizes the main sleep disorders associated with ADHD: sleep-related breathing disorders, sleep-related @PHENOTYPICFEATURE$, circadian rhythm sleep-wake disorders, and central disorders of hypersomnolence (@DISEASE$ hypersomnias).	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+8b764ff6778f9112d5afbc54aa26a9c197f3ae61	@DISEASE$ is a very rare @PHENOTYPICFEATURE$.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+92b2a3119f398cc1a5d05e870b5b0c795c9f9fb7	Microscopic pulmonary @PHENOTYPICFEATURE$ embolism: an unusual presentation of @DISEASE$.	false
+581ab13470706e56f2339b3bfc681d7dbefbacf1	We conclude that this @PHENOTYPICFEATURE$ is a @DISEASE$ (WHO type C thymoma).	false
+133a042ae1ff3c6d5a3f0b0ef8973b43da171996	We conclude that this @PHENOTYPICFEATURE$ is a thymic carcinoma (WHO @DISEASE$).	false
+2e1843339db1242727d624ba737d4875a6803b65	A @PHENOTYPICFEATURE$ was excised totally, and biopsy referred @DISEASE$ or thymic carcinoma.	false
+0da53422fb5ce289ec27f618a8e985fabdb785f6	A @PHENOTYPICFEATURE$ was excised totally, and biopsy referred thymoma type C or @DISEASE$.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+a40028d462cad15958eba460894f0ea3c0c5ed35	Thymomas and @DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+84a2fc3008e8d6d6044a88c21f323765e31afa5b	@DISEASE$ (TC) is a rare aggressive @PHENOTYPICFEATURE$.	false
+0623fbb9b1015a4743bb0e3c041dd59c571116f2	@DISEASE$ is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$.	false
+fbfafcd1f2bcd220e89097d8d7bad680a97e5db0	@DISEASE$ is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+578ab88df2edc95fd7994a7fa0768d4abf031f39	@DISEASE$ (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, @PHENOTYPICFEATURE$, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin.	false
+636fe58d863f86b9ccb0e197d29da33ef8d852e7	@DISEASE$ (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DIDMOAD syndrome).	false
+fd4e8326137e12de844265eab4b04ea0bcc1090a	Neurohypophyseal diabetes insipidus is also a component of autosomal recessive @DISEASE$ or DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$) (OMIM 222300)(1), an autosomal recessive disorder.	false
+933918418de2ba43235acbeb93c12b915783c46d	@DISEASE$ (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, @PHENOTYPICFEATURE$, and other abnormalities.	false
+954b5de5198152bfee32953ef444c075d62247ff	@DISEASE$ (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$ (DI DM OA D syndrome) associated with other variable clinical manifestations.	false
+e8639d24047d52fc6f054df31cc5b877f8ea249b	Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, @PHENOTYPICFEATURE$, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and @DISEASE$.	false
+858e3486c135b1c7b86f7e474666c9602cf41326	demonstrating multiple @DISEASE$ @PHENOTYPICFEATURE$.	false
+f17220546b920fe5ccfb0fc6724bfd79110aa331	Pravastatin for thioacetamide-induced @DISEASE$ failure and @PHENOTYPICFEATURE$.	false
+684c932978dc9695599ceae32bfab777e9a1e78c	Surprisingly, @PHENOTYPICFEATURE$ was apparent even when @DISEASE$ injury was mild.	false
+2a298f097151db9fa2492c311bdfe94d9f4ac26e	One patient had @DISEASE$ failure and an unusual @PHENOTYPICFEATURE$.	false
+fe97881d954a458994c11e412f6b93d25d2f07b1	Other clinical features include speech disorder, @PHENOTYPICFEATURE$, developmental delay, polyuria/polydipsia, ataxia, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, @DISEASE$ fibrosis, and renal hypoplasia/dysplasia.	false
+034c75417b498e56d1f4b40e0309f1362c5addbb	Other clinical features include speech disorder, brachydactyly, developmental delay, polyuria/polydipsia, @PHENOTYPICFEATURE$, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, @DISEASE$ fibrosis, and renal hypoplasia/dysplasia.	false
+0b0f2d07f8cf726e4a8ecd898fbd5390cffa8493	[Substantiation of complex intensive treatment of @DISEASE$ failure, complicated by @PHENOTYPICFEATURE$].	false
+68867f267aac6cc987405d915577475abe4ab0aa	@DISEASE$ fibrosis, polycystic kidney, colobomata and @PHENOTYPICFEATURE$ in siblings.	false
+f19e9cb4b7519ebf163ef40515e7f95dd36d8dd9	The nephrogenic @DISEASE$ dysfunction syndrome associated with renal @PHENOTYPICFEATURE$.	false
+6f984e212c698c505a8ef29894761ea264b2686c	In many species, a PCS induces @DISEASE$ insufficiency, accompanied by @PHENOTYPICFEATURE$.	false
+6322e3c4421fd2e7de63b1cda8ee86f243e40f8a	Fifty-two of 70 (74%) patients had @DISEASE$ @PHENOTYPICFEATURE$.	false
+22d301c2a461c7839ddb81ced918fd08b2f9c367	Type 2 familial partial lipodystrophy (@DISEASE$) is an autosomal-dominant lamin A/C-related disease associated with exercise intolerance, muscular @PHENOTYPICFEATURE$, and insulin resistance.	false
+01841a27a05d358648827853bc2013998090472b	Type 2 @DISEASE$ (FPLD) is an autosomal-dominant lamin A/C-related disease associated with exercise intolerance, muscular @PHENOTYPICFEATURE$, and insulin resistance.	false
+bc121aac3c42bf8e662e745b7c58bd7db57a88a2	The propositus, a 28-year-old woman with @DISEASE$ and @PHENOTYPICFEATURE$, presented with a spastic-ataxic gait and lower extremity paresthesiae at age 18. Laboratory investigation revealed a type V hyperlipidemia pattern, insulin resistance, and high alpha-tocopherol levels.	false
+ffaa1f902c54632e7a191ceb079e8ebca75ceb88	Novel subtype of @DISEASE$ with mandibular hypoplasia, @PHENOTYPICFEATURE$ and short stature of unknown genetic origin.	false
+8ee3a81e460c0f6e6bee1e16829108f13f2207b9	Progressive @PHENOTYPICFEATURE$ is one of the main complications in HbS/@DISEASE$ (HbS/beta-thal).	false
+d44533f6941cd61aed7032be3b3edb31587f19dd	'Pink test' was also positive in some cases of @PHENOTYPICFEATURE$, immunohemolytic anemia, chronic hemoproliferative disorders, normal pregnant women, and negative in other microcytic anemias (@DISEASE$, iron deficiency anemia).	false
+eee912091d26d83b406c52d0dadd5f5df6107097	Extramedullary haematopoietic @PHENOTYPICFEATURE$ producing small intestinal intussusception in a @DISEASE$/hemoglobin E Thai boy: a case report.	false
+a5248dcadf7f199dbe91900310c33a04896454ab	To our knowledge, this is the first case of extramedullary haematopoietic @PHENOTYPICFEATURE$ that produced intussusception of the small intestine in a @DISEASE$/hemoglobin E patient.	false
+c3f565c8a978e0938e09fd3df5c0435cf1bc2598	Extramedullary hematopoiesis (EMH) is a common manifestation in @DISEASE$, but can also occur in several clinical hematologic disorders or @PHENOTYPICFEATURE$.	false
+c618b9272721cafdcc04597f2e7a7844a6800485	@PHENOTYPICFEATURE$ was present in 54.2% of @DISEASE$ patients with hypoparathyroidism.	false
+0c8f2f7a0302b0a23aa629edb4e3b73a9af6cf6a	The authors report a case of @DISEASE$/hemoglobin E disease with extramedullary haematopoietic @PHENOTYPICFEATURE$ which developed at the small intestine and caused intussusception.	false
+fe762502550c043b3ca9c03efe15dc36ebc5f7ff	We also used the system to deliver lectures on pediatrics to nurses; provided case discussions on diaphragmatic herniation and subtentorial @PHENOTYPICFEATURE$; and had on-line presentation of a patient with @DISEASE$ using presentation software.	false
+40a766237654cc2eba793d6ead338f4f843af930	We report a family with distal arthrogryposis and @PHENOTYPICFEATURE$ which demonstrates the clinical overlap between @DISEASE$ and Aase-Smith syndrome.	false
+f617de1cf175b3806ef89ebaccc19a83dc384b61	Albeit its great benefits as immunosuppressant, the use of CsA has been limited by undesirable nephrotoxic effects, including sodium retention, @DISEASE$, interstial fibrosis and progressive @PHENOTYPICFEATURE$ in transplant recipients.	false
+e46f1dbbd99178ddab75f806765794d06e0c26e8	A family with distal arthrogryposis and @PHENOTYPICFEATURE$: possible overlap between @DISEASE$ and Aase-Smith syndrome.	false
+37db416e1b14d84d045e2f0156bee3604c42b319	The triad of a camptodactyly, club feet, and @PHENOTYPICFEATURE$, called the @DISEASE$, is a rare autosomal dominant trait with variable expressivity, known from only three previously described families.	false
+a52a03c44d5430c5dab97d0489292f3c916b8418	Camptodactyly, @PHENOTYPICFEATURE$, and club foot (the @DISEASE$).	false
+e17379d8abb9b9bf3daccc011dca6e0d3f161b66	@DISEASE$ (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by @PHENOTYPICFEATURE$ and congenital contractures of the hands and feet.	false
+5be864e5263dd0d7512b4f50b17c23733cd546ca	A second family is described in which camptodactyly, club foot, and @PHENOTYPICFEATURE$ (the @DISEASE$) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	false
+a3654f7f2bb0013da7d341e8966f7527309e58cd	The @DISEASE$: autosomal dominant @PHENOTYPICFEATURE$, camptodactyly, and club feet.	false
+f9776d86c97c6fa00a6cbc026e43cc4ab29934d9	CsA is associated with sodium retention, @DISEASE$, interstitial fibrosis, and progressive @PHENOTYPICFEATURE$ in transplant recipients.	false
+1b59f9437b7461b025ddc1c199f1588cf2a01494	Liebenberg synostosis syndrome, digitotalar dysmorphism, and the @DISEASE$ of autosomal dominant @PHENOTYPICFEATURE$, camptodactyly and club feet.	false
+5ad808a2ba7ed3f293d92acdb2d3407a26dd6660	Acquired transient @DISEASE$ in neonatal @PHENOTYPICFEATURE$.	false
+74d5c3d19112bbebb54869064361a8ea03fde0e6	Fetal @PHENOTYPICFEATURE$ and neonatal stroke as the first presentation of @DISEASE$.	false
+1474f22897717d3d5e1d05d741166b71e4e4d522	Activated protein C resistance and false type 2 @DISEASE$ detected after multiple shunt failures in a patient with @PHENOTYPICFEATURE$.	false
+ec4e1e808f6afe0c2d0d66dbb1164ae74051510f	Thrombosis was due to acquired transient @DISEASE$ which was caused by impaired liver function due to hepatitis, sepsis and @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+495192d3a29c8e188098593331f9f61be24ad6c3	@DISEASE$ with @PHENOTYPICFEATURE$: a clue to the aetiology?	false
+c02368235b182172512f442bd4b64bf55bd38785	The factors including @PHENOTYPICFEATURE$, vibratory @DISEASE$ neuropathy, vascular insufficiency, retinopathy, and dermatological changes were recorded for all patients.	false
+765b10bb018edc52431061617b93af1941d28430	Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, @PHENOTYPICFEATURE$, @DISEASE$ and a wide range of physical findings.	false
+402b3d6e4c5eac69956ef27f07cf573c27ae20c5	Treatment of infantile acute lymphocytic leukemia (ALL) may cause @PHENOTYPICFEATURE$ and hypogonadism due to @DISEASE$ induced by chemotherapy and whole-brain radiotherapy.	false
+ed3908e26db482ee16574682718cb9084b66a5e2	@DISEASE$ and diabetes insipidus controlled with hormone replacement do not protect against fluid retention from idiopathic @PHENOTYPICFEATURE$.	false
+835b41638d5770bbf2a5e89424841762ecd1216b	Eleven patients with @DISEASE$, medio-@PHENOTYPICFEATURE$ and amelogenesis imperfecta were examined.	false
+769a07a0d92cff7046d42e7116cb733d3368c6c0	In addition to the risk of diabetes, arthralgia, @PHENOTYPICFEATURE$, @DISEASE$ and hypogonadism, iron excess is also associated with aggravation of the cytotoxic effects exerted on hepatocytes by other agents such as alcohol or hepatotrophic viruses.	false
+13ad6b43a87ac7e78c5ee06a8c67f9137f8e387a	We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, @DISEASE$, facial dysmorphology and dental anomalies, including @PHENOTYPICFEATURE$, retrognathia and a solitary median maxillary central incisor amongst other features.	false
+fb2a407aca385e5979fcbb7256f32f78fe66b97e	We report on 2 brothers with @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (EEC) syndrome and hypothalamo-@DISEASE$.	false
+3023075b6503db54b5e8a4f588af94a11c629540	These anomalies include short stature, @DISEASE$, @PHENOTYPICFEATURE$, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis.	false
+4723841fc90381bd237cb8cf3011863b99fa07bd	Untreated @DISEASE$ may lead to lethargy, coma, @PHENOTYPICFEATURE$, and death.	false
+790dd53e9cc5ba92072f535ccd5e42ebc70e0d75	Her clinical progression included @PHENOTYPICFEATURE$, seizures, episodes of decerebrate posturing, loss of respiratory drive, and @DISEASE$ from mass effect.	false
+1165cfac768bec10029eeb4aaad41d884edf2198	@DISEASE$ is a developmental @PHENOTYPICFEATURE$ and right ventricle that results in tricuspid regurgitation and right heart enlargement.	false
+b2eb9aed332850d784593e0f09c36d47647cdf9b	@DISEASE$ is an uncommon congenital developmental @PHENOTYPICFEATURE$ that has a wide spectrum of pathologic anatomy.	false
+2ce5a0c6d6fc00604bb0cb806df81a436d6dd1cf	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy is a @DISEASE$, clinically characterized by the acute development of peripheral edema and targetoid purpuric lesions on the face and extremities.	false
+5905e0f3748ca097c4cd3e363201abb51fe63912	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI) is a rare acute benign @DISEASE$ affecting children younger than 24 months of age.	false
+e9daef49618809001788a571b4b0a952986fb523	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI) is a @DISEASE$ that usually occurs in children younger than 2 years of age.	false
+9eef307a03674f8cc98a59af5a367b405c0415c9	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI) is an acute @DISEASE$ (LCV) of infants.	false
+931e8dc29900a827827e4dd3757dbf8899588545	Acute infantile hemorrhagic @PHENOTYPICFEATURE$ (AIHE) is a @DISEASE$, clinically characterized by the symptom triad of fever, large purpuric skin lesions, and edema.	false
+08fa62beaa7acfc4dc25186ec9cdc5239188442d	Acute infantile hemorrhagic edema (AIHE) is a @DISEASE$, clinically characterized by the symptom triad of fever, large purpuric skin lesions, and @PHENOTYPICFEATURE$.	false
+80a2ef0f4d20b42643dd53b98e46e85a4d3fde1b	Infantile acute hemorrhagic @PHENOTYPICFEATURE$ (AHE) of the skin is an uncommon form of @DISEASE$ that occurs in children younger than 3 years.	false
+e9f674d68295454a48ff65bdc852f9584f302587	Hypocomplementemic urticarial vasculitis (HUV) is a rare form of @DISEASE$ characterized by recurrent episodes of urticaria and painful, tender, burning or @PHENOTYPICFEATURE$ lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage.	false
+73ffea9452c36811d88c1818d66a0c3fef59203e	Acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI) is a @DISEASE$ that affects children under 2 years of age and is clinically characterized by fever, extensive tender edema and large purpuric lesions that involve mainly the face, ears and limbs.	false
+e4118afd8c09d65c52f42c78050302e7a0f9aa83	Acute hemorrhagic edema of infancy (AHEI) is a @DISEASE$ that affects children under 2 years of age and is clinically characterized by fever, extensive tender @PHENOTYPICFEATURE$ and large purpuric lesions that involve mainly the face, ears and limbs.	false
+53db629bd58ea43243cb44ecd1651f380a78fa59	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+8f32f917e35efd1fcfcaaafe6ada2231aeeb62c2	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+fa4c6bcac00c95d8474034d456dadff96032297b	The patient was admitted with sudden onset @DISEASE$ mental status, @PHENOTYPICFEATURE$, personality changes, and a serum-sodium level of 128 mEq/L (range 135-145 mEq/L), despite receiving sodium supplementation.	false
+4c90a83d0cb7606072d0987a13ed0b354b3b85fc	Weight loss, a rise in @DISEASE$, @PHENOTYPICFEATURE$ and/or gastrointestinal symptoms should prompt healthcare workers to assess for SHLA, especially at between 6 and 18 months on ART.	false
+811770871667e577e1c4dfd9bc95b43fea2aa997	The major non-hematological toxicities consisted of alanine aminotransferase (@DISEASE$) elevation and @PHENOTYPICFEATURE$.	false
+f1d53c6c46f60e696bf43732c125ca53794a67e7	LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, @DISEASE$, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich @PHENOTYPICFEATURE$.	false
+278db6f956bb5fac7ac3632d4685bb12986208ea	So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile glycogenosis type II (Pompe's disease), @DISEASE$, mitochondriopathy, Barth syndrome, Friedreich @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease.	false
+624bdb54426064991b853f70d18c82552cc10199	[Preliminary study of relationship between @DISEASE$ and @PHENOTYPICFEATURE$].	false
+ede2a2e61bdda35370d094579e5ddcd9d4a9ef53	To investigate the relationship between @PHENOTYPICFEATURE$ and @DISEASE$ (AgP).	false
+3d99449c20ca4a88be550836df207e09ba7593f4	A study indicated that not only overweight or @PHENOTYPICFEATURE$ but also underweight was correlated with generalized @DISEASE$ (GAgP).	false
+d062dc30c9f7fda35e40045cd5176f4b9b368f99	A French family had @DISEASE$ (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and @PHENOTYPICFEATURE$.	false
+e5f8b147b933b082f342a3c5c4b4066e9aa2913a	Mutations in the homeobox transcription factor PITX2 result in @DISEASE$ (ARS), which is associated with @PHENOTYPICFEATURE$ and an increased risk of glaucoma.	false
+8ba133c33cf6a350b6bfa95722439fbec099dda9	This report confirms that @DISEASE$ (with dental and @PHENOTYPICFEATURE$) can be caused by a mutation in FOXC1.	false
+2c29e0876e78e808e347a831e908c116ad559132	@DISEASE$ is an autosomal dominant condition defined by @PHENOTYPICFEATURE$ in combination with facial, dental, skeletal and umbilical abnormalities.	false
+90747bd3bde7e8dd68721175167727c4ba9a3af6	@DISEASE$ is an @PHENOTYPICFEATURE$, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies.	false
+758d292c6741ab8c0afaee18224e15f925ebe211	@DISEASE$ is an autosomal dominant condition characterized by a variable combination of @PHENOTYPICFEATURE$, dental anomalies, and umbilical hernia.	false
+6cd02cf5f5e2c1c82778d97ed8842941087d823e	Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ce92f5a4b9d573aa4c174e6335212d707d9f0ab5	Peters anomaly and @DISEASE$ (ARS) belong to the overlapping spectrum of disorders summarized as @PHENOTYPICFEATURE$ (ASD).	false
+1fad534a762b282adf3979c407fd470287f51b65	@PHENOTYPICFEATURE$ arises due to developmental anomalies and may be associated with systemic disease, as in @DISEASE$.	false
+89c37110f43b61f7d54cfcda72f92d2054c0d0f9	@DISEASE$ (ARS) is a rare autosomal dominant disorder with @PHENOTYPICFEATURE$ and systemic anomalies.	false
+14aaf79ec23f59fe774ed06edc576c7872488e12	Murine Foxc1 is essential for development of the ocular anterior segment, and in humans, mutations have been identified in @DISEASE$, a disorder characterized by @PHENOTYPICFEATURE$.	false
+1e6efcf69f9a09f58b8766c6fcaeadeb9e90c426	Symptoms of @DISEASE$ and most other related GSDs include exercise intolerance, muscle @PHENOTYPICFEATURE$, acute rhabdomyolysis, and risk of acute renal failure.	false
+b0719db464a490e6f8337d86c2a7bee3618e1533	@DISEASE$ is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and @PHENOTYPICFEATURE$.	false
+c82c885aab7ae0de41752992b85b0286e09c80d6	CONCLUSIONS This case illustrates that even seemingly innocuous movements, if rapid isotonic or prolonged isometric in nature, can elicit a muscle @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+69dc7935fb4080936a4f92d1441d78f06eca637e	We present a case of adult-onset @DISEASE$ in which recurrent bouts of @PHENOTYPICFEATURE$ could not be associated with any exertional events until a tonic seizure was witnessed after the fourth episode of renal failure.	false
+c4b1984a087b83c7f0770438133d99261336cd9b	We present a case of adult-onset @DISEASE$ in which recurrent bouts of renal failure could not be associated with any exertional events until a tonic seizure was witnessed after the fourth episode of @PHENOTYPICFEATURE$.	false
+bac7050a6a0f2c64e230d0cf4920cf6ca5917f1e	Patients with @DISEASE$ typically experience exercise intolerance manifested as acute crises of early fatigue and @PHENOTYPICFEATURE$, sometimes with rhabdomyolysis and myoblobinuria, triggered by static muscle contractions or dynamic exercises.	false
+4e187c6a9fcd719bd4985b4bd80de33de08aff79	Sarcoplasmic reticulum (SR) vesicles were isolated from muscle biopsies of 4 normal volunteers, a patient with @DISEASE$ (before and during @PHENOTYPICFEATURE$), and a patient with normokalemic periodic paralysis.	false
+f58c2d1033009716f9579fa97c217e1d91c755a6	However the prevalence of some malformations such as Down syndrome, @PHENOTYPICFEATURE$, @DISEASE$-microtia, syndactyly and cleft palate have increased.	false
+ff9fe712f6ee3e76224c8b94f8465fb458a9462d	@DISEASE$ type II associated with mental delay, @PHENOTYPICFEATURE$, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.	false
+e68ed726657367ef84ed01a00962899a8e17a5c6	@DISEASE$: a rare @PHENOTYPICFEATURE$ of the neurohypophysis: a case report.	false
+0b41de0103918295479c8d9f195203c6ad177782	The @DISEASE$ is an extremely rare and little-studied primary @PHENOTYPICFEATURE$ of the adult neurohypophysis.	false
+976c0dd2cc1d082925abe554d14b24cce1c8e818	@DISEASE$ is a @PHENOTYPICFEATURE$ extremely rare in childhood, with only 4 cases reported in literature.	false
+9fa14c7adb97085f5e55c562dc64fec527ee94fe	We report a case of @DISEASE$, a rare primary @PHENOTYPICFEATURE$ of the neurohypophysis.	false
+8982cfc94c30296e0b5634ff5479553325631037	@DISEASE$ is a rare @PHENOTYPICFEATURE$ arising from the neurohypophysis or pars intermedia of the adenohypophysis.	false
+1fd34a19b6e558c791c93b9fca226363063e72c7	@DISEASE$ is an uncommon noninvasive @PHENOTYPICFEATURE$ of the sellar and suprasellar regions.	false
+e4de5abe2d1c26d8df32261fc7b47658bcc04689	The morphological and immunohistochemical characteristics of the @PHENOTYPICFEATURE$ were consistent with the diagnosis of @DISEASE$.	false
+e6d4e5e3a5b68d12d63234d4c05eac94e8cf93fa	@DISEASE$ is a rare, benign, primary @PHENOTYPICFEATURE$, almost all of which occur in adults.	false
+6d8bb9117b70b5322c8d3ca6bc7c14a523e6c395	The @DISEASE$ is a rare primary @PHENOTYPICFEATURE$ of the neurohypophysis.	false
+bbd4acd731addce54946c444ec56866d9c3d3c72	@DISEASE$: a misdiagnosed benign @PHENOTYPICFEATURE$ of the posterior pituitary.	false
+e381a9068cdfb22f39ea1e98ac20aabec5ad3087	@DISEASE$ localised to the pelvis, imitating a gynaecologic @PHENOTYPICFEATURE$.	false
+c8664d6e3eb17c5d6f7cca831f20a50d6c002972	Unusual appearance of @DISEASE$ simulating a @PHENOTYPICFEATURE$.	false
+58d28f27e25a33a919740a4c4dfcc211a393f967	It has not been classified with @DISEASE$ or @PHENOTYPICFEATURE$.	false
+50adf356e0ddd4ea4202c4a42c9e33f3610115a4	All primary retroperitoneal @PHENOTYPICFEATURE$, except two cases of @DISEASE$, were an bloc removed.	false
+7ed128cf92087ffbe10c8d6f3878d3b5cebb7f9a	[@DISEASE$ presenting with multiple fibrosis, starting with left fingers @PHENOTYPICFEATURE$].	false
+fbf9ad6b681210a3195202e68cb222f155f727fc	Ultrasound and CT revealed obstruction of the urinary tract in all cases: a lithiasic cause in 90% of cases and the rest were isolated cases of @DISEASE$, abnormal pyelo-ureteral junction, @PHENOTYPICFEATURE$ and pyelo-ureteric duplicity.	false
+64bbe01dee65cdf53d0ee6a8d59c99fdfe2ae601	Pelvic confined @DISEASE$  mimicking a large @PHENOTYPICFEATURE$.	false
+c24d531f02b570ff85c6f4fba869377d8162b066	Presumably the suprasellar @PHENOTYPICFEATURE$ was the first manifestation of @DISEASE$.	false
+e4180c995542f03a9586a10579492c4e5fe0a10b	The @PHENOTYPICFEATURE$ was diagnosed histologically as @DISEASE$.	false
+13f80ff8b359b0a70c7a127df5061405eb4e97de	@DISEASE$ with a complex cystic lesion mimicking an inferior vena cava @PHENOTYPICFEATURE$.	false
+0ebf3ec424ddf6bf62ed1860a218e2d54800a16e	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight @PHENOTYPICFEATURE$, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and @DISEASE$.	false
+513dc93d18743a36b9449d8537066462849858a2	However, given the compromised speech development in @DISEASE$, @PHENOTYPICFEATURE$ due to middle ear infections should be treated vigorously.	false
+909ab9ccee38478821a7d09c21fd702c10ab2a3b	@PHENOTYPICFEATURE$ due to middle ear infections occurred frequently in young @DISEASE$ children (6 out of 22 cases).	false
+28f42403671e2114b47d55408708dea07dec8cc6	The patients presented with the characteristic symptoms of Jacobsen syndrome (@DISEASE$), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain @PHENOTYPICFEATURE$ coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases.	false
+84a94332f6720139b16924a3ecc8f6b195bb026d	@DISEASE$ has been associated with serious liver disease in adults, including @PHENOTYPICFEATURE$, chronic active hepatitis, and cirrhosis, but never with isolated obstructive jaundice.	false
+9eb9da86ac28764439347aee540a84dceda5c915	It is concluded that acquired @DISEASE$ can be part of a paraneoplastic syndrome and is a sensitive plasma marker for @PHENOTYPICFEATURE$ progression.	false
+3ed5a511b669705c496cf00c4e86ec9162399f2e	This case is the first to corroborate the postulated @PHENOTYPICFEATURE$ marker role of @DISEASE$ in a patient with hepatoma by documenting a direct relationship with response to chemotherapy.	false
+fd2a0d4d3dc60e765f9f653836413838b1077464	Unusual traits that have not been previously reported in association with @DISEASE$ were @PHENOTYPICFEATURE$ and an abnormal EEG.	false
+488a2b667cb0b3dbecbb1b1fc2b2af2f4cc44906	Meanwhile, the strong associations between gastric functional disorders and electrogastrography (@DISEASE$) abnormalities (e.g. in gastroparesis, unexplained @PHENOTYPICFEATURE$ and functional dyspepsia) continue to motivate deeper inquiries into the nature and causes of gastrointestinal arrhythmias.	false
+e919391ddca7967a485acb4ce0f2890db2f35163	Although most patients with valproate-induced @DISEASE$ are asymptomatic and detected incidentally with findings such as hypophosphatemia, hypouricemia, increased urinary ?2-microglobulin, and generalized hyperaminoaciduria, clinical symptoms such as bone fracture, @PHENOTYPICFEATURE$, tachypnea, and edema have been reported.	false
+283fc4804bf1769d74f3368f592de6bfebe9ced4	Suggestive manifestations included severe rickets, @PHENOTYPICFEATURE$, and complex renal tubule dysfunction meeting the criteria for secondary @DISEASE$.	false
+cedfa4c6a377e61612eb64ab6ebcf4d351d0c779	Aminoglycosides can result in renal tubular dysfunction leading to @DISEASE$, Bartter syndrome, and distal tubular @PHENOTYPICFEATURE$.	false
+54be73e7cee45ae21abfde8636d09f275a1b1f37	Electrolyte disturbances may occur in pSS, such as renal distal tubular @PHENOTYPICFEATURE$, diabetes insipidus, Gitelman syndrome or @DISEASE$.	false
+63745e60af8c48d8c31224cb63c6bcf7b8fc7e1e	It is usually a distal tubular @PHENOTYPICFEATURE$, but @DISEASE$ or Bartter syndrome has been exceptionally reported.	false
+e25c65e4f9a15448086e4249342e86bd75e6d2ba	Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, @PHENOTYPICFEATURE$, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, @DISEASE$, lactic acidosis, and acute encephalopathy.	false
+4a2898693e7bdf13f2f56ea18d96cd09b839a112	Observations on the @DISEASE$ and renal hyperchloraemic @PHENOTYPICFEATURE$ in the adult.	false
+8cc6bf225d3cbdcdc5cea873c69205a2bc8b2c9a	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, @PHENOTYPICFEATURE$, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal @DISEASE$, or conditions such as rickets and hepatocellular carcinoma.1	false
+3c55678beed9ebd97dd8930450b0fcd593488a8e	Laboratory investigation did not show any evidence for vitamin-D deficiency, chronic renal insufficiency, @DISEASE$, tubular @PHENOTYPICFEATURE$, hepatic disease or intestinal malabsorption.	false
+9b96a0f0f862d7fca828bd246d5ce886a91bfe86	Diagnosis included Hodgkin's disease (47), neuroblastoma (46), non-Hodgkin's lymphoma (37), teratoma (18), ganglioneuroma (14), cystic hygroma (11), Schwannoma (five), germ-cell tumors (three), lipoma (three), @DISEASE$ (three), malignant histiocytosis (two), neurofibroma (two), mesenchymal sarcoma (one), rhabdomyosarcoma (one), peripheral neuroectodermal tumor (one), @PHENOTYPICFEATURE$ (one), and hemangioma (one).	false
+744314be09fc1e8ed2127f40e69437bb70c96c2b	@PHENOTYPICFEATURE$ and @DISEASE$: review and perspectives.	false
+74174085f6c3d33dbf1e231508a06c4af2d551ef	Sick sinus syndrome with @DISEASE$ for bilateral @PHENOTYPICFEATURE$ repair.	false
+0bd80cafe9a8148205e672b44e40c53e8116471b	Syntrophins have been implicated in various pathologies like @DISEASE$, @PHENOTYPICFEATURE$, cancer.	false
+c9f8901a707bd866247e05115b485ca15350cc1e	Theory of mind in patients with frontal variant @PHENOTYPICFEATURE$ and @DISEASE$: theoretical and practical implications.	false
+9925d9da22d3ead5b7267d3c000dc1a10ceccb59	To evaluate and characterize differences in dietary and eating behavior among patients with early @PHENOTYPICFEATURE$ (FTD) versus @DISEASE$ (AD).	false
+388f33f897df1ea485fd7233ed87ff1c0b786368	This discrepancy, combined with reduced episodic @PHENOTYPICFEATURE$, has widespread clinical utility in diagnosing Alzheimer's disease (@DISEASE$).	false
+598ef4fa69cd32f34b01dc919d86f2d8fb9469a5	@PHENOTYPICFEATURE$ of face movement in @DISEASE$ (AD) has been rarely investigated.	false
+4d56da772e82d7447649f94b8739f3f262a8145f	The patients with behavioural variant @PHENOTYPICFEATURE$ and those with @DISEASE$ were matched for age, gender, education and global cognitive impairment.	false
+f4f0843af4c1cc66de16c8ace1f15e0efecb7114	People with FrBI developed @DISEASE$, rather than behavioral variant @PHENOTYPICFEATURE$, as observed over seven years.	false
+8b29de25480307573cd1d6f0ff287b87ee574bdc	In general, artistic creativity can be expressed in exceptional cases both in @DISEASE$ and @PHENOTYPICFEATURE$, whereas divergent thinking decreases in dementia.	false
+cecd3c30f54193ea2d508c29444e9256022cc7d8	Exposure to MNT reduced proliferative response to TcR engagement, increased IFN-gamma production and led to apoptosis at minimal concentrations of 10(-6) M. A progressive loss in @DISEASE$ and B cell lymphoma/@PHENOTYPICFEATURE$-2 activities, and an increase in the expression of CD27, TRAF3, TRAIL, p53 and Fas genes were also observed.	false
+83f9017e23d4ad15e9d0b8790d5b5ad09650c22c	Familial Danish Dementia (@DISEASE$), an early-@PHENOTYPICFEATURE$ non-amyloid-? (A?) cerebral amyloidosis, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (AD).	false
+ef3eb1135527945d790980b938eae415a4cb14cc	Here, we present a rare case of a tailgut cyst associated with @DISEASE$, sacral and @PHENOTYPICFEATURE$ and vascular duplication, in a young lady who presented with constipation and infertility.	false
+a7a6cdd1dcce33f409316c32ab093baa69538d34	A genetic link between these two diseases is particularly evident in @DISEASE$: mutations of ATP1A2, SCN1A and CACNA1A genes, identified in this disease, have also been involved in different types of epilepsy and @PHENOTYPICFEATURE$.	false
+4b6f789de6556057bf885aaa6898438c3551fe6d	Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+), @DISEASE$ (FHM), and the severe childhood epilepsy Dravet syndrome (DS).	false
+f4cb9e6b3058064f8354c1b8600a47b30c61f07b	Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+), familial hemiplegic migraine (@DISEASE$), and the severe childhood epilepsy Dravet syndrome (DS).	false
+15b204b09844b6de0b7e338e12026ca2973de8a7	Similar selectivity was observed for ranolazine block of increased persistent current exhibited by Na(V) 1.1 channel mutations representing three distinct clinical syndromes, generalized epilepsy with @PHENOTYPICFEATURE$ plus (R1648H, T875M), severe myoclonic epilepsy of infancy (R1648C, F1661S) and @DISEASE$ type 3 (L263V, Q1489K).	false
+19fdd6ada0fd9c912b6307a4ac57d33e3a599469	(1) Sodium channelopathies: familial generalized epilepsy with @PHENOTYPICFEATURE$ plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, episodic ataxia type 1; (3) calcium channelopathies: episodic ataxia type 2, spinocerebellar ataxia type 6, @DISEASE$, hypokalemic periodic paralysis, central core disease, malignant hyperthermia syndrome, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia.	false
+9f875e5ffda29a671a182b8f20f5034b17ac4f1a	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, @DISEASE$, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+4a5413685cadaeec9072ac068c848bf473f123c8	@DISEASE$ is associated with @PHENOTYPICFEATURE$ in an FHM2 family with a novel de novo ATP1A2 mutation.	false
+30cb39980b81cd93661398f178af667320fcc81c	Different SCN1A mutations are known to cause a variety of phenotypes, such as generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+), Dravet syndrome and @DISEASE$ (FHM).	false
+b73c19a869cb6c009b99f08cf4d5f285043fe30e	Different SCN1A mutations are known to cause a variety of phenotypes, such as generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+), Dravet syndrome and familial hemiplegic migraine (@DISEASE$).	false
+8d19e475a1e29806d8f727aa5ecf91c7d5064528	We present a case of a 60-year-old woman with a positive fluorodeoxyglucose integrated positron emission tomography and computed tomography (PET/TC) mammary chain lymphadenopathy and @DISEASE$ of the left lower lobe who had a previous bilateral mastectomy and breast reconstruction for @PHENOTYPICFEATURE$.	false
+bea20feb1396ef64227ac7c4dc2d28726102b64c	We present a case of metastatic @DISEASE$ metastatic to the heart, presenting as @PHENOTYPICFEATURE$ and diagnosed by 111Inpentetreotide scintiscan despite negative endocardial biopsy.	false
+3aa23e085ac1b85f221f7dad6d21e2aa38fc43ce	To characterize, via clinical and molecul criteria, a cohort of patients with @DISEASE$ and thereby increase awareness of this syndrome as a recognizable cause of @PHENOTYPICFEATURE$.	false
+fdb21721eebbb8fdb23b31e80ed2b9b871680da3	Q. 54) 9-year-old boy with primordial @PHENOTYPICFEATURE$ exhibited characteristic features of the @DISEASE$ (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, muscular hypotonia with joint laxity - "falling hands", radiographic manifestations included the tall vertebral bodies and gracile long bones.	false
+2e0bbb9212d68a83ddff245b3486795726a8059c	@DISEASE$: an easily recognizable yet underdiagnosed cause of @PHENOTYPICFEATURE$.	false
+e3a19a517da6a4cc3bba9e6d68be8de20da5ae75	Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like ? thalassemia X-linked mental retardation syndrome, CHARGE syndrome, @DISEASE$, Rett syndrome, systemic lupus @PHENOTYPICFEATURE$, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others.	false
+48bb77109f7861f06184cfa77b3d0aa479c1adb1	We found that normal MRI findings and secondarily @PHENOTYPICFEATURE$ (SGTCS) preoperatively were associated with a non-seizure-free outcome, while rare postoperative seizures and ipsilateral temporal @DISEASE$ with seizure-free outcome.	false
+69eabfd7e7047fbbe48e079b4543a968a1abee31	The positive rate of @DISEASE$ in the focal seizure group was higher than that in the @PHENOTYPICFEATURE$ group.	false
+b4c0abb4cdd840003c8265045cb17f70b0acb88e	Patients with pruritus associated with S?zary syndrome, mycosis fungoides, lung adenocarcinoma, breast carcinoma, sarcomas, metastatic solid tumors, chronic kidney disease, @PHENOTYPICFEATURE$, iron deficiency, brachioradial pruritus, and @DISEASE$ have experienced considerable symptom relief with short-term use of aprepitant (up to two weeks).	false
+a4b5f2c92c8f256bcd6511164aceb107d17b7d99	A 4 year old boy with @DISEASE$ was admitted to the paediatric ward with meningoencephalitis dominated by @PHENOTYPICFEATURE$ and motor aphasia.	false
+22d5b4805c4be02ea262d511c1346716ce2cf152	Bilateral peripheral @PHENOTYPICFEATURE$ caused by Pneumocystis carinii developed in a patient undergoing mediastinal irradiation after chemotherapy for @DISEASE$.	false
+0b7a88634dc870b490258e1da41f7b6d61265484	Acute febrile illness associated with bilateral @PHENOTYPICFEATURE$ after irradiation in a patient with @DISEASE$.	false
+06c39158a78f2637a204332e3c7d1ca526abb215	Vesicular rash and bilateral @PHENOTYPICFEATURE$ in a 67-year-old woman with @DISEASE$.	false
+1928f736c798a9264c8aad49805bd8dcbc867d25	In this case report, we presented a 74-year-old patient with @DISEASE$ (HL) that had been left untreated due to the development of acute @PHENOTYPICFEATURE$ caused by severe degenerative AS during chemotherapy.	false
+51dae88f34c99b97774bbf2cdfd2d77fda482c1d	Extra-axial @DISEASE$ with bony @PHENOTYPICFEATURE$ mimicking meningioma.	false
+6548b2e7b26139e5775c1e221588d0fff8a4dae6	@PHENOTYPICFEATURE$ patients present with @DISEASE$, demonstrated a significantly higher frequency of delay in language development as compared with cleft palate patients present with VPI without CAD.	false
+98009916470da12721901c90506e35a55c5cb1ce	Cleft palate patients present with CAD, demonstrated a significantly higher frequency of delay in language development as compared with @PHENOTYPICFEATURE$ patients present with VPI without @DISEASE$.	false
+e5d96399f76f3aa504f64303544cf13ba87217d2	Cleft palate patients present with @DISEASE$, demonstrated a significantly higher frequency of delay in language development as compared with @PHENOTYPICFEATURE$ patients present with VPI without CAD.	false
+de7b95b2ba9e5a9ea8c3210a360c4c5856bfc2d1	@PHENOTYPICFEATURE$ patients present with CAD, demonstrated a significantly higher frequency of delay in language development as compared with cleft palate patients present with VPI without @DISEASE$.	false
+5ea9a54c74f8d266a7a6b5dd8d2cd17ffe0ee25f	To compare two modalities of speech intervention (SI) in @PHENOTYPICFEATURE$ children with compensatory articulation disorder (@DISEASE$).	false
+33ef506e07dedba054ee09258b21bf6a2d6100be	Naturalistic based SI did not reduce the time necessary for correcting @DISEASE$ in @PHENOTYPICFEATURE$ children.	false
+caa2a6fa81c9a1e21e9f976d71a6b9124544368c	A matched control group of 45 children with repaired @PHENOTYPICFEATURE$ who also exhibited @DISEASE$ were identified.	false
+04ddf89eafb7258b7da13cfdbbbfa940e01971f9	Phonologic based SI significantly reduced the time necessary for correcting @DISEASE$ in @PHENOTYPICFEATURE$ children.	false
+e970212cfb370a41f71080e546a6c2e23645797d	Thus, the presence of RBBB does not suggest more severe or extensive @DISEASE$; however, RBBB does predict more left ventricular @PHENOTYPICFEATURE$ abnormalities.	false
+2cd94c49133178a584c45f287e0bc8d5929001d6	Cadaveric knee models were then used to test the correlation between isolated and combined ligamentous @PHENOTYPICFEATURE$ and identified @DISEASE$ deformity curves.	false
+5eb26d1241f79ac34f5e7c82164e97c71f580eb7	Compensatory articulation disorder (@DISEASE$) severely affects speech intelligibility of @PHENOTYPICFEATURE$ children.	false
+5ea9a54c74f8d266a7a6b5dd8d2cd17ffe0ee25f	To compare two modalities of speech intervention (SI) in @PHENOTYPICFEATURE$ children with compensatory articulation disorder (@DISEASE$).	false
+9ef5f58d6ab1a71dfa8282e188163f9bcf0bad3d	Patients with @PHENOTYPICFEATURE$ (PCP) frequently show compensatory articulation disorder (@DISEASE$).	false
+27faa783234bbf879a0b5f032c599cf3d9cbd9e6	A case of @DISEASE$ presenting as @PHENOTYPICFEATURE$.	false
+763bb769d5f0fd00628bfcf7d0a3b7bc8e12bf5e	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, @DISEASE$, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+e55973a44884a739128473a71d2db51e85c4e5fc	In older children and adults, @DISEASE$ was associated with a profound, symmetrical, sensorineural auditory impairment, and a variety of @PHENOTYPICFEATURE$, which are not uniform within families, or correlated with structural labyrinthine deformities.	false
+a4b0fa6e366eb81d3671be092d535b48212b4ce7	Persistent @PHENOTYPICFEATURE$ and destructive arthritis caused by @DISEASE$: A case report.	false
+9302698964d142cfbad221cf96d2acdf33edb338	An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous @PHENOTYPICFEATURE$ (@DISEASE$).	false
+d96c6b31477b96b543e830dbbe61ab0b0a912ca0	Spinal @PHENOTYPICFEATURE$ is common among patients with @DISEASE$, and greater spinal deformity was associated with higher pain intensity.	false
+8de398458fc8db88f86ac56a4bc6ce195cba0114	Autoimmune inner disease (@DISEASE$) is an uncommon cause of @PHENOTYPICFEATURE$ and poses a diagnostic challenge.	false
+4ea85212fe3671929d5fcd2d7d8a6726825be901	We conceive that @PHENOTYPICFEATURE$ may be observed only in @DISEASE$ patients with severe spine deviation.	false
+dc31bb8ac0e292c16bea13a94f65a16c9675fd49	Autoimmune inner ear disease (@DISEASE$) is a rare disease that results in progressive @PHENOTYPICFEATURE$.	false
+ab7dd1bb34d384d73c213c0753a6ca9ceda65310	Here we hypothesized that genetic predisposition to inner @PHENOTYPICFEATURE$ in @DISEASE$ patients may be a strong factor in the generation of idiopathic scoliosis.	false
+46ad426074ff9098866872b1b188843deea2f68b	Posterior spinal fusion (PSF) for adolescent idiopathic scoliosis (@DISEASE$) is associated with significant @PHENOTYPICFEATURE$ and prolonged hospitalization.	false
+674fa664af194aaf27a83b9ab577252299d442f3	There is not enough evidence to show a link between unilateral, isolated, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b4b16a888d6220e657ae47dd61efa62596b0e65c	Here, we looked for @PHENOTYPICFEATURE$ in @DISEASE$ which are likely to be the cause of spinal deformity and could also be targeted by early treatments.	false
+d96c000210786f88776389dea8f7d3245d8a05e5	FES-ambulation was associated with enhanced overground walking in individuals with @DISEASE$ D SCI, reduced @PHENOTYPICFEATURE$, and improved mental health.	false
+a2b67e21d4baac56fe690563597051df93131933	Autoimmune inner ear disease (@DISEASE$) is a rare condition characterized by bilateral fluctuating @PHENOTYPICFEATURE$ (SNHL).	false
+a2c0a2ade8c76bc3df731cfb54f745d93ee48618	The cause of short stature in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - @DISEASE$, 1 - spondylometaphyseal dysplasia, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional @PHENOTYPICFEATURE$ - in other 3 patients.	false
+03c3af8e636ff99e9c7cb83c4b1b3b781a3b8366	The cause of @PHENOTYPICFEATURE$ in 6 patients was achondroplasia, 2 - Ellis van Creveld, 2 - @DISEASE$, 1 - spondylometaphyseal dysplasia, 1 - hypothyroidism, 1 - pseudoachondroplasia and constitutional short stature - in other 3 patients.	false
+52ef55be12f842a0a59eb93a3f831b07dd73494f	The son who died 36 years old had showed clinically @DISEASE$, cerebellar ataxia, dystonic extrapyramidal movement, @PHENOTYPICFEATURE$ and bulging eyes.	false
+11575567bd96efa0946116a7a2c1095c8b8d9f81	Clinical examination showed the typical signs of spastic paraplegia with increased tone, @DISEASE$, @PHENOTYPICFEATURE$ and contractures.	false
+b3f27ddeb2d30397268bd7f2cc1cf3ea55589901	Because ALS affects both upper and lower motor neurons, it causes @DISEASE$, spasticity, muscle fasciculations, @PHENOTYPICFEATURE$, and weakness.	false
+b002c66bad42d2739228ba8e2e4b53449361c617	Frequent symptoms are @DISEASE$ and @PHENOTYPICFEATURE$.	false
+932ef979178081dac713a301cbcb958ec256a228	Examination showed weakness and @PHENOTYPICFEATURE$ of the bilateral upper limbs and pyramidal signs, including Hoffmann sign and @DISEASE$ of the lower limbs.	false
+757cc20d8c27d6ad607ac51137180c8ecefd8851	One dog was euthanatized and the other was monitored for 2 months, during which time her signs progressed to severe dysmetria, weakness, @PHENOTYPICFEATURE$, and rigidity with marked @DISEASE$.	false
+2d7299c069e7d49cb476b1f53728bfc30359829c	Common signs and symptoms also found on presentation include @PHENOTYPICFEATURE$, ataxia, developmental delay, optic disc pallor or atrophy, @DISEASE$, tremor, obesity, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others.	false
+611b8d9e24e421a1adbe131c339ee6517327402c	A Japanese man developed bulbar palsy and generalized @PHENOTYPICFEATURE$ with symmetrical @DISEASE$ at the age of 57 and died 4.5 years after the onset.	false
+f5565e01453982dc2b80c78614de51cedff9f777	When she was thirty-six she had pseudobulbar palsy, vertical gaze paresis, @DISEASE$ and @PHENOTYPICFEATURE$ of the upper half of the body.	false
+551ffc7f5e4e8b5d6acb8b1e67701ba988beac44	Neurological examination showed weakness and @PHENOTYPICFEATURE$ of right lower extremity (MMT 1-2) and @DISEASE$.	false
+0859ad52001ce253f2b5c4674d2de08812b5bfb6	@DISEASE$ is a painful condition caused by inflammation, compression or entrapment of the pudendal nerve; it may be related to or be secondary to childbirth, pelvic surgery, intense cycling, sacroiliac @PHENOTYPICFEATURE$ or age-related changes.	false
+c6396567081dba16d2adc98df46d960741badaca	We more particularly focused on patients with @DISEASE$ or with high grade neuroendocrine @PHENOTYPICFEATURE$.	false
+3f153162b875322510fd4ab68de7713f8c935fb0	@DISEASE$ (PEX), a well-known cause of irreversible @PHENOTYPICFEATURE$ worldwide, is characterized by abnormal protein aggregation on the anterior lens capsule of the eye.	false
+b86e6f76a8e327b5f9494b93a66fa59a154b2305	Association of HHcy with eye diseases such as retinopathy, @DISEASE$ maculopathy, cataract, @PHENOTYPICFEATURE$ and retinal vessel atherosclerosis is established.	false
+5dbf760487e754241f54d093df3e122acf94f78a	Color stereo optic disc photographs of patients with primary open-angle glaucoma (n = 114), @DISEASE$ (n = 41), normal-pressure glaucoma (n = 54), ocular hypertension (n = 45), nonarteritic anterior ischemic optic neuropathy (n = 20), descending @PHENOTYPICFEATURE$ (n = 60), and control subjects (n = 100) were morphometrically examined in a masked fashion.	false
+751d986614e7407a45e9f6f15665451b4f7e83ec	It is also quite possible that some @PHENOTYPICFEATURE$ in late childhood or adulthood are in effect the result of early burnt-out @DISEASE$, as in our second case.	false
+cb223ffa2ade6ed902efa0d159dec6b19d320573	Oral urea has been used in the past to treat various diseases like gastric ulcers, liver metastases, sickle cell disease, heart failure, brain oedema, @PHENOTYPICFEATURE$, @DISEASE$, etc.	false
+ae2bf718e794406fbae357e5fa03ef0693abc5ef	Missense mutations in the coagulation factor C homology (COCH) gene (14q12-q13) cause the autosomal dominant @PHENOTYPICFEATURE$ and vestibular disorder DFNA9 (OMIM 603196), and a high prevalence of symptoms of @DISEASE$ (MD) has been described in families with a mutation in the COCH gene.	false
+78a6fa414f802fae47040b89953f9a88246467e7	In accordance with Colebatch's method, click-evoked myogenic potential(VEMP: vestibular evoked myogenic potential) was studied to evaluate 11 healthy subjects and 24 patients with peripheral and central vestibular disorders such as @PHENOTYPICFEATURE$, peripheral vestibular disorder, endolymphatic hydrops(@DISEASE$), cerebellopontine (CP) angle tumor, and Wallenberg's syndrome.	false
+cabd0459dd11728c3345f2c5ff621da668dd534b	If only the combination of @PHENOTYPICFEATURE$, recruitment, and tinnitus is accepted as a definite proof of the diagnosis of @DISEASE$, at least 10% of the patients we studied suffer from bilateral Meniere disease.	false
+1712904c56e43b3aa659de43fd2d7b9ebc93fd3a	ELST often present with @PHENOTYPICFEATURE$, tinnitus, and vertigo, which may mimic @DISEASE$.	false
+eeabd8ce38bd0ec6b043cd9ef7f4f41b656504d9	In the setting of progressive @PHENOTYPICFEATURE$, atypical @DISEASE$, or recurrent vertigo, the presence of a mass in the labyrinth or labyrinthine windows- delineated on CT or MR images, despite a normal internal auditory canal, cerebellopontine angle, or brain stem - is highly suggestive of intralabyrinthine schwannoma.	false
+db03f5ef313cd9d37231c6c18cb74f4e1fe703ec	@DISEASE$ (MD) is a heterogeneous clinical condition characterized by @PHENOTYPICFEATURE$, episodic vestibular symptoms, and tinnitus associated with several comorbidities, such as migraine or autoimmune disorders (AD).	false
+bca13cbb81550b25ebdc7a500cf2fbaadb88742b	(1) The top 10 diagnosis in disease spectrum were aortitis media, vertigo, noise-induced deafness, aero-sinusitis, illusion in flight, air-sickness, allergic rhinitis, @PHENOTYPICFEATURE$, chronic rhinitis and @DISEASE$.	false
+c69a3c3565dd26d076beb91a4a0431fbe1220a02	@DISEASE$ constitutes one of the most challenging @PHENOTYPICFEATURE$.	false
+4e6de48fc6726474164b8935fe38674d19cff994	@DISEASE$ is a rare dysontogenetic benign @PHENOTYPICFEATURE$.	false
+5b602a69eb2ec71b9e9ded712e17b962e39b7b0e	@DISEASE$ is a benign @PHENOTYPICFEATURE$.	false
+2a7801583d909c98c7d0c00b0f108af0703d4418	@DISEASE$ recurrence: the impact of @PHENOTYPICFEATURE$ topography.	false
+24ede8ff5557641f2f04147c03bc6ab45149de53	Infrasellar @DISEASE$ (IC) is a rare @PHENOTYPICFEATURE$.	false
+5b602a69eb2ec71b9e9ded712e17b962e39b7b0e	@DISEASE$ is a benign @PHENOTYPICFEATURE$.	false
+47ee1e0384bc81afbfab47be751423fda0c6fefe	Pathological examination of the @PHENOTYPICFEATURE$ revealed @DISEASE$.	false
+48a72759a05389086b2f5102a869cdc2bd43a9bd	@DISEASE$ is a rare fetal and neonatal @PHENOTYPICFEATURE$.	false
+11fcd3e7cb5f702dfdab925e62dfd6b22adcf50a	Intraventricular rupture of @DISEASE$ cysts is an unusual event which is associated with a high risk of loculated or @PHENOTYPICFEATURE$.	false
+4e6de48fc6726474164b8935fe38674d19cff994	@DISEASE$ is a rare dysontogenetic benign @PHENOTYPICFEATURE$.	false
+b0b7f92ec095a46d42e87d8f84dc1dada213dbfb	This patient presented with @DISEASE$, some learning and fine motor deficits as well as @PHENOTYPICFEATURE$.	false
+85722b78283d9052e553fe5aa2bf0b1bebc003d3	Lack of studies investigating the association of childhood @PHENOTYPICFEATURE$, sleeping problems, and @DISEASE$.	false
+909294fb66b6fce3aa3e2511b38da0e7e5ee4c29	One fifth understood that untreated OSA could lead to cardiopulmonary disease, @PHENOTYPICFEATURE$, or behavioral problems, such as @DISEASE$.	false
+31911cdad06165b4c84e1885426babfc696cd3df	The patient was characterized by developmental delay (DD)/intellectual disability (ID), @PHENOTYPICFEATURE$, autism spectrum disorder, @DISEASE$ and mildly dysmorphic features.	false
+3755ba68c237a635b1620cf1228149841ea121f5	Abnormal spindle-like @PHENOTYPICFEATURE$ gene detection in an autosomal recessive microcephalic Saudi patient with @DISEASE$ and mental retardation.	false
+94735606ec5b17747fb8a2b1d1d93cf90f954f9d	The phenotype is strikingly similar between affected siblings with cognitive impairment, @DISEASE$ (ADHD), @PHENOTYPICFEATURE$, growth retardation, congenital cataract, and dystonia.	false
+8186f6aaaea846a5ae86fdc22ae02ac2597a2f8e	Several findings demonstrate its therapeutic role against neurodevelopmental disorders, including Angelman syndrome, Fragile X syndrome, sleep-wake disorders, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+148c3b3f1c912a27b108a55003088578c734858f	Recognized features of RTH include @PHENOTYPICFEATURE$, growth retardation and @DISEASE$ in childhood, and goitre and thyrotoxic cardiac symptoms in adults.	false
+72a8a7f19f5802bbd9640cabe9f0d9d09775ee11	Down syndrome, autism, @PHENOTYPICFEATURE$, schizophrenia, cretinism, and @DISEASE$ are among the most common DDs that currently plague numerous countries and have varying incidence rates.	false
+d284c6194c2f0cda4956fab18e459ca03d4299c2	Overlapping symptoms included neurodevelopmental delay, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders (autism spectrum disorders/@DISEASE$).	false
+3eacb8d79e03288b26027270fcc3a1f136f5925c	Here we describe a case of @DISEASE$ with distinct @PHENOTYPICFEATURE$ including full cheeks, shallow orbits, and high arched palate, opisthotonus with clenched hands and feet; in addition to a family history of a female sibling with a similar clinical picture who died at 3 months of age.	false
+0cbc07fef85cfa6f6bb04ca8324eb1046974f1ee	@DISEASE$ associated with @PHENOTYPICFEATURE$ and mental retardation: a case report.	false
+613908c10e28bc37b67095a84a71468ad00d3d19	Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for @PHENOTYPICFEATURE$ (713 cases); 2.3 per 10,000 live births for @DISEASE$ (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases).	false
+0d68620b8dcb7274299a16c495cfb7626b2800e6	New pathogenic variant in the NPR2 gene: Etiology of low size, @PHENOTYPICFEATURE$ and bone dysplasia in a male with @DISEASE$.	false
+146070231fde011089972784043b72739dc8f1bf	The two known loci for ADCA type I (spinal @PHENOTYPICFEATURE$ 1 and 2) were excluded, as were candidate loci, @DISEASE$ locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa.	false
+a18dbf5f26d03381591c3a0e3e8cc27c38a6890e	Patients with intractable @PHENOTYPICFEATURE$/gut-related sepsis that needed surgical intervention or resulted in mortality were in severe @DISEASE$ group.	false
+3f1cdff09a1aa95687eaee0e3efd86207611e5e1	Risk for @DISEASE$ and @PHENOTYPICFEATURE$ deserves clinical attention during antipsychotic treatment among preschoolers.	false
+3640cdf7f7a20f8563b7fad3c40fc6e4b064df56	Among 8713 patients admitted with ventricular tachycardia or @PHENOTYPICFEATURE$, 29% (n = 2508) had a subsequent @DISEASE$ procedure, and 9% (n = 818) had an ICD implanted.	false
+8259d74fdf6be7b6f44365d65840241a4ac8ea5e	In patients with @PHENOTYPICFEATURE$, future arrhythmic events could be predicted by @DISEASE$ and Holter ECG.	false
+9658bf516e906d60516e5f69e23ef60716b75cde	To stratify the risk in patients with type 1 pattern, three major factors have been suggested: typical ECG pattern in the basal state; a history of syncope; and inducible ventricular tachycardia/@PHENOTYPICFEATURE$ during electrophysiological study (@DISEASE$).	false
+916f65855c4f4cc1386df39b8630978438b6701b	@DISEASE$ was more effective in patients with sudden @PHENOTYPICFEATURE$ than in those with presbycusis.	false
+c24efa4754744dcce9b6da0bffba17c76002e742	22 C-WPW (C), 20 AV nodal reentrant tachycardia (A), both diagnosed by @DISEASE$ and 100 control subjects (N) who have no evidence of pre-excitation and no @PHENOTYPICFEATURE$ episodes were compared.	false
+f01b2595d24829f20c66a5da45b1cf1ddf59ba50	Role of electrophysiologic study (@DISEASE$)-guided preventive therapy for the management of ventricular tachyarrhythmias in patients with @PHENOTYPICFEATURE$.	false
+609ebe5c0b7c092f576040977b43563dc5b8b51d	Seven consecutive patients, all asymptomatic with respect to @PHENOTYPICFEATURE$, were investigated by means of ECG, Holter monitoring, and invasive electrophysiologic studies (@DISEASE$).	false
+41ac5868b1a7d0957aea939ace97d615a7647e47	This case shows that juvenile-onset DM can occur simultaneously with @DISEASE$ and result in @PHENOTYPICFEATURE$, acute cataract formation and a high cortisol concentration.	false
+4e1d6465c89e71e03a6455d5f0d5060a9c2f71c6	Here we report a sporadic case of @DISEASE$ showing signs of @PHENOTYPICFEATURE$ during the perinatal period.	false
+ac2fe775c3f1d44c2439796225307737562e1dca	Radiographs of the long bones of a 9-year-old boy presenting with waddling gait, @PHENOTYPICFEATURE$, underweight, and severe skeletal pain showed symmetric diaphyseal cortical thickening pathognomonic for @DISEASE$.	false
+11c90330a8953b5fb19549d61e32811efe46bfe5	Camurati-Engelmann disease (@DISEASE$, OMIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant @PHENOTYPICFEATURE$, caused by mutations in the transforming growth factor-?1 (TGF?1) gene.	false
+129797bddd0aab0dc3dfcb0a44e275867a7dcc60	@DISEASE$ and SI resulted in equal uptake of radioactivity in the @PHENOTYPICFEATURE$.	false
+4a62397277304cf4fbf14fc01485f13b44b9e6b6	Our patient, a 49-year-old male resident of a nursing home, presented with @PHENOTYPICFEATURE$, waddling gait, bone pain, and increased fatigability, usual features of @DISEASE$ (which had been formally diagnosed when he was 8 years old).	false
+1155634e5298add8faa3ebeaf01af349c63f724b	VCR administered by @DISEASE$ was effective in reducing @PHENOTYPICFEATURE$ and prolonging survival time.	false
+1faecf70f7b3c62be3c3b416343775206e27ec2d	Moreover, following a single @DISEASE$ infusion, labeled PBAE nanoparticles spread completely throughout the @PHENOTYPICFEATURE$.	false
+2525c8c2cfc50ed903db46e093915dbae5adad72	Therefore, @DISEASE$ represents a promising technique for treating midline @PHENOTYPICFEATURE$ with the H3K27M mutation.	false
+734ea269a97fc1bf7d5923606a41154771126d73	Most patients of @DISEASE$ (also known as progressive diaphyseal dysplasia and oeteopathica hyperostotica multiplex infantalis) present with extremity pain, @PHENOTYPICFEATURE$, and waddling gait.	false
+efc0be5286e6590a3c03d582e63334e722054a6e	In third one, IL-13 cytotoxin is infused by @DISEASE$ followed by @PHENOTYPICFEATURE$ resection.	false
+19adcbdf800108244f568b52aabf576b102c7d84	A case of @DISEASE$ with @PHENOTYPICFEATURE$ due to massive infiltration of the kidney is reported.	false
+081b64a1c90784f313d47b7f45eb46c0a2185192	@DISEASE$ is the commonest @PHENOTYPICFEATURE$.	false
+c14cb97cf776d34cf6389a8dbd9c21ea101763d1	[@DISEASE$ revealed by an ovarian @PHENOTYPICFEATURE$].	false
+895e9702e0ca82d7a9983ebcddbbfdb044206f9b	We studied @PHENOTYPICFEATURE$ from 51 Burkitt's lymphoma patients, comprising 26 with classic Burkitt's lymphoma, 17 with atypical @DISEASE$ and 8 with 'discrepant Burkitt's lymphoma', by comparative genomic hybridization and gene expression profiling.	false
+49246d1098d8057b6a79119529b3368a097e0a23	We studied @PHENOTYPICFEATURE$ from 51 @DISEASE$ patients, comprising 26 with classic Burkitt's lymphoma, 17 with atypical Burkitt's lymphoma and 8 with 'discrepant Burkitt's lymphoma', by comparative genomic hybridization and gene expression profiling.	false
+a74c813e437f1444afa879722e969069e06b5f86	We studied @PHENOTYPICFEATURE$ from 51 Burkitt's lymphoma patients, comprising 26 with classic @DISEASE$, 17 with atypical Burkitt's lymphoma and 8 with 'discrepant Burkitt's lymphoma', by comparative genomic hybridization and gene expression profiling.	false
+a2a04d90a7dc336ab1e171cdeaf0607f85210803	We studied @PHENOTYPICFEATURE$ from 51 Burkitt's lymphoma patients, comprising 26 with classic Burkitt's lymphoma, 17 with atypical Burkitt's lymphoma and 8 with 'discrepant @DISEASE$', by comparative genomic hybridization and gene expression profiling.	false
+1b341c8048ea23f85be77f68f7bb636eb84e4faf	@PHENOTYPICFEATURE$ immunity in patients with @DISEASE$.	false
+0303044c214def22e30cb2a29bb330efda4b07b5	@DISEASE$; a @PHENOTYPICFEATURE$ of children of Africa.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+2bc5661e2819bac88d9773420daee130c252dfda	[A case of ovarian @DISEASE$ with hyperuricemic @PHENOTYPICFEATURE$].	false
+486220285775cc66d906b6a4545242f3fad6eae4	Pre-treatment tumour lysis syndrome and acute @PHENOTYPICFEATURE$ Nigerians with @DISEASE$: report of three cases and literature review.	false
+a9d3e46177a446b3fbf3a85316ccca694885ea53	Pre-treatment @PHENOTYPICFEATURE$ lysis syndrome and acute renal failure in adult Nigerians with @DISEASE$: report of three cases and literature review.	false
+4a3545261e808526c82a09dba5f2ed6552a598b0	Circumstances favoring jaw @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d74bee134f9c3274ddf881a8cddd36f3d1442af	P-L-@DISEASE$ was constituted by hypotonia, hypogonadism, hypomentia, @PHENOTYPICFEATURE$ and other minor anomalies, however, CNS anomaly had not been reported.	false
+b15c6b299c1f6234f582007a4a6cf7186947b0b0	In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are also typical for the R-@DISEASE$, but also by @PHENOTYPICFEATURE$.	false
+7454f2fc6a7689b0500ab3080f99200108c0cde0	Hemorrhagic syndrome and @PHENOTYPICFEATURE$ were described more often in patients with @DISEASE$ than in those with vitamin C depletion or without hypovitaminosis.	false
+3209219d79b922293bbcacf05776a9863d6af114	The examination and treatment of 547 patients with alimentary obesity revealed in them significant impairments of myocardial contractility, manifest hemodynamic disorders (in 65.5% of patients), marked changes in lipid metabolism (hypercholesterolemia, hypertriglyceridemia, hyperlipacidemia, @DISEASE$ in 26,5%, type IIb in 14,5%, type IV in 32,5% of patients), as well as reduced activity of the T-immunity system, all these changes being prerequisites for the development of atherosclerosis, ischemic heart disease and essential @PHENOTYPICFEATURE$.	false
+db11425a3fa878972585fb728d830214cc4103d9	Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as @PHENOTYPICFEATURE$, tuberous sclerosis, Friedreich ataxia, mitochondrial encephalo-myopathies, @DISEASE$, convulsive disorders, syncope, central nervous system infections, etc.	false
+c7866d7c08db61623c133d427bf7aded919daec6	We report on @PHENOTYPICFEATURE$ in the subgroup of congenital @DISEASE$ patients.	false
+2bb17bce93fa38e6c9062c6b4b437ccf8fe9336a	The extent and severity of glial @PHENOTYPICFEATURE$ were similar to that described in @DISEASE$ and morphologically appeared as glial bundles.	false
+6776796b903572c7f14a0d352d389a3944e993c9	In fact, patients with arytenoid @PHENOTYPICFEATURE$ caused by cricoid @DISEASE$ may be aphonic even though the anterior membranous vocal folds make contact during attempted phonation.	false
+3fd86ecd47dc409eec92c6faa10c43929ef11cdf	We report a case of metastatic @DISEASE$ to the lung that invaded the right inferior pulmonary vein with massive cardiac extension and presented with an acute @PHENOTYPICFEATURE$.	false
+76b5ffaa5072bc76d0ab5f19d51dc287442acb21	Cricoid @DISEASE$ presenting as arytenoid @PHENOTYPICFEATURE$.	false
+46dd0116c5bb7dbc3f72bdb4fe11bed0a1d9cd02	A total of 10 patients underwent TES (2000-2016) for primary (osteosarcoma, @DISEASE$, fibrosarcoma and chordoma) and secondary spinal tumours (lung, breast, thyroid, oesophagus, and @PHENOTYPICFEATURE$ metastases).	false
+53c7e278aecdfe1c05b61343acafd223833c1875	Four of them suffered from primary chest wall tumors (2 desmoid tumors, a @DISEASE$, and 1 hemangioma), one had a recurrent chest wall tumor from breast carcinoma, and one had @PHENOTYPICFEATURE$.	false
+1c6ced17de604889ba67cfaeca0552df0333f0c5	[Metastasis from tibial @DISEASE$ to the endocardium of the left auricle with development of @PHENOTYPICFEATURE$].	false
+f85ef2e6fbe7b46bc898668c9a730e209d7921f2	With arytenoid @PHENOTYPICFEATURE$ caused by cricoid @DISEASE$, usually the posterior larynx is open.	false
+9a6a110b93ee98c418f39da35abb2c8f09e4e5bd	We report a case of a 45-year-old female patient with pelvic @DISEASE$ who underwent surgical treatment and started to present visual loss, systemic inflammatory response syndrome (SRIS), @PHENOTYPICFEATURE$, hepatosplenomegaly, cholestasis as well as pulmonary bleeding suggesting a sarcoma-associated vasculitis.	false
+b75cbc970eebe37e8e4ab4a92968e22786109418	Severely dysphonic, elderly patients presenting with arytenoid @PHENOTYPICFEATURE$ of unknown cause should be evaluated by fiberoptic laryngoscopy and by computed tomography scan to rule out cricoid @DISEASE$.	false
+dab6b7cc8c24f4865684b716f42272a3278a8171	Arytenoid @PHENOTYPICFEATURE$ (arytenoid cartilages spaced too widely apart) appears to be the most common initial recognizable physical finding of cricoid @DISEASE$.	false
+ad4c3234741f6946cf72fd1e5a304a1f583913b7	The aim of this study is to establish such a targeting strategy by applying a bacterial cytosine deaminase (@DISEASE$)/5-fluorocytosine (5-FC) gene therapy system and to examine whether the strategy enhances the efficacy of radiotherapy in a @PHENOTYPICFEATURE$ xenograft.	false
+b2534824ae240e1941521920b28b4b67544f9545	When knee joints were examined for pathologic changes at varying times after challenge, a marked enhancement of the @PHENOTYPICFEATURE$ was observed in both male and female @DISEASE$ mice when compared with controls at all time points.	false
+d39aa60071e62b9b22f1058f3e468f85dd36026f	Postoperatively, patients with < 60% tumor necrosis received ADM and @DISEASE$; those with @PHENOTYPICFEATURE$ necrosis > or = 60% < 90% (Fair Responders FR) were given MTX, CDP and ADM.	false
+bb0a3ec8a7e809b0cd6fde53563bc378f84dd8fd	Postoperatively, patients with < 60% @PHENOTYPICFEATURE$ necrosis received ADM and @DISEASE$; those with tumor necrosis > or = 60% < 90% (Fair Responders FR) were given MTX, CDP and ADM.	false
+df6ee12e3cb1bee35d3ece680fa33c0d990fa390	RT reduced the rate of death from breast cancer (@DISEASE$) for triple-negative @PHENOTYPICFEATURE$ (hazard ratio, 0.35; P = .06),	false
+8690d2fbc952adc3312111959d55ed3ba3ad5996	In tumor-bearing nude mice, complete @PHENOTYPICFEATURE$ regression was observed in 6 of 13 HT29/yCD tumors in response to 5-FC treatment (500 mg/kg i.p. daily, 5 days a week for 2 weeks), whereas 0 of 10 HT29/@DISEASE$ tumors were cured.	false
+26fcffdc7dd02729b43edeff53b2e5515b1c4288	In tumor-bearing nude mice, complete tumor regression was observed in 6 of 13 HT29/yCD tumors in response to 5-FC treatment (500 mg/kg i.p. daily, 5 days a week for 2 weeks), whereas 0 of 10 HT29/@DISEASE$ @PHENOTYPICFEATURE$ were cured.	false
+863e96621ff84071dcd3ae86a63f85b69d070369	In @PHENOTYPICFEATURE$-bearing nude mice, complete tumor regression was observed in 6 of 13 HT29/yCD tumors in response to 5-FC treatment (500 mg/kg i.p. daily, 5 days a week for 2 weeks), whereas 0 of 10 HT29/@DISEASE$ tumors were cured.	false
+9dae0b1ba431fc4200100bc8acfa7bcc72eb1df9	In tumor-bearing nude mice, complete tumor regression was observed in 6 of 13 HT29/yCD @PHENOTYPICFEATURE$ in response to 5-FC treatment (500 mg/kg i.p. daily, 5 days a week for 2 weeks), whereas 0 of 10 HT29/@DISEASE$ tumors were cured.	false
+0b09c64a397ce6f621fe3739a56a5df112dd8acf	Retroviral infection of @PHENOTYPICFEATURE$ cell lines in vitro indicated that the IC50 of 5-FC was 30-fold lower in YCD-infected cultures as compared with cultures infected with @DISEASE$ retrovirus.	false
+baceaf6bf074493a85c907641f8c6595a78726f1	Good histologic responders (< 5% residual viable @PHENOTYPICFEATURE$) were treated postoperatively with MTX, BCD, and doxorubicin (DOX); poor histologic responders were treated with @DISEASE$, DOX, and cisplatin (CDDP).	false
+e2be1057ebaca5ea6a203bf0e3d0fb0bdc432a72	Good histologic responders (< 5% residual viable @PHENOTYPICFEATURE$) were treated postoperatively with MTX, @DISEASE$, and doxorubicin (DOX); poor histologic responders were treated with BCD, DOX, and cisplatin (CDDP).	false
+89cb4a994a39fed16a28274eca8383798c503248	Conclusion Subtype was not predictive of response to RT, although, in our study, human epidermal growth factor receptor 2-positive tumors seemed to be most radioresistant, whereas triple-negative @PHENOTYPICFEATURE$ had the largest effect on @DISEASE$.	false
+4183165e2092e8437487fcee96bfd37badbfbfa5	Conclusion Subtype was not predictive of response to RT, although, in our study, human epidermal growth factor receptor 2-positive @PHENOTYPICFEATURE$ seemed to be most radioresistant, whereas triple-negative tumors had the largest effect on @DISEASE$.	false
+9b047a83ba4e352e7cd9090cb3e29893521f14ec	The amount of 5-FU produced in HT29/yCD @PHENOTYPICFEATURE$ after a single injection of 5-FC (1000 mg/kg, i.p.) was 15-fold higher than that produced in HT29/@DISEASE$ tumors.	false
+e02d0dcd3c91fcad7bd39375c8b11c62585ef4cf	The amount of 5-FU produced in HT29/yCD tumors after a single injection of 5-FC (1000 mg/kg, i.p.) was 15-fold higher than that produced in HT29/@DISEASE$ @PHENOTYPICFEATURE$.	false
+cc81169a2b12a7c395e86e6d28ef64d3759355bb	In tumor-bearing nude mice, the average minimum relative tumor size (compared with pretreatment values) of HT29/@DISEASE$ @PHENOTYPICFEATURE$ treated with 5-FC and radiation (500 mg/kg i.p. and 3 Gy, 5 days a week for 2 weeks) was 0.55+/-0.1,	false
+3d422855d4e8a0321848448904a73dfbf8a970d4	In tumor-bearing nude mice, the average minimum relative @PHENOTYPICFEATURE$ size (compared with pretreatment values) of HT29/@DISEASE$ tumors treated with 5-FC and radiation (500 mg/kg i.p. and 3 Gy, 5 days a week for 2 weeks) was 0.55+/-0.1,	false
+df474dfac4580d1f94d436795144dc12db815707	In @PHENOTYPICFEATURE$-bearing nude mice, the average minimum relative tumor size (compared with pretreatment values) of HT29/@DISEASE$ tumors treated with 5-FC and radiation (500 mg/kg i.p. and 3 Gy, 5 days a week for 2 weeks) was 0.55+/-0.1,	false
+b9042c1f32f6a6577dddfa12eb64dfec3d4a3aae	@DISEASE$ @PHENOTYPICFEATURE$ disease management in 3 tertiary care centers: key clinical components and venues of care.	false
+628a9821c2462ab1833504a89c119fba7abab3cb	In conclusion, @PHENOTYPICFEATURE$ was documented in 60% of the patients and must be included among the clinical features of @DISEASE$22q11 syndrome.	false
+d4cb6afcdcac399dd56bbbe92fc6898b5c578604	The aim of this study was to evaluate the prevalence of @PHENOTYPICFEATURE$ in @DISEASE$22q11 syndrome.	false
+6ff7f5eca51844c3094d8fc8435ef4046d7db7ae	@DISEASE$ is rare; it is seen predominantly in the Ashkenazi Jewish population and usually presents with global @PHENOTYPICFEATURE$ in infancy, subtle corneal opacifications or clouding, and very slowly progressive neurodegeneration over many years.	false
+e998586820900bc55fc12a4ed91b9ec435c27a42	@DISEASE$ (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe @PHENOTYPICFEATURE$.	false
+7201433a15c60584f06eb8b9922132a723c17d80	@DISEASE$ (MLIV) is an autosomal recessive lysosomal storage disorder often characterized by severe @PHENOTYPICFEATURE$ and neuro-retinal degeneration.	false
+7a74a7497fcf7d66b30dff5f562084d27334323a	@DISEASE$ (MLIV) is a very rare disorder of late endosome/lysosome transport, characterized by @PHENOTYPICFEATURE$ and progressive visual impairment owing to corneal clouding and retinal dystrophy.	false
+52ef300721f3519a5f140d793068d5481794dac5	The first of a series of epidemiological studies in progress in India has shown a strong association between risk of @PHENOTYPICFEATURE$ and remembered episodes of dehydrational crises from severe @DISEASE$-like diarrhoeal disease.	false
+f5df304f6b0bb9fd2596fdda2f3dad2bba44a0a2	Anterior open bite and @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+21f635b879a1a09f6ea1fae00a96d0beef187edf	Obstructive @PHENOTYPICFEATURE$/hypopnoea syndrome in adults with @DISEASE$.	false
+3a059cfed42ab578664fc564cd5ddfe4cdd978a1	Relationship between sleep, @PHENOTYPICFEATURE$, and neuropsychological function in children with @DISEASE$.	false
+f6e5d7012a0375e501d888be03ef06a282b8df1d	Asymptomatic moyamoya syndrome, atlantoaxial subluxation and @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+aebc2c461f8d350c7eb5966caca2f73e3f5ecf45	Neuroleptic malignant syndrome-like state in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+de7b41f3ae31ff357ecc37e8b847ec947201b23f	Prenatal cortical @PHENOTYPICFEATURE$ (Caffey disease) with @DISEASE$.	false
+fcd52be97831e3cc84f78da1b0ba79e0ca40901b	Speech and motor @PHENOTYPICFEATURE$ and intelligibility in adolescents with @DISEASE$.	false
+47c7f2d9cbbfdbb9a8400091c8a5f6a28fd1143d	The presence of @PHENOTYPICFEATURE$ in @DISEASE$ is also reported.	false
+2c4ab8e568ec691828f03ad58f2dce149a432d5f	Speech intelligibility and childhood verbal @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+f2b111132a86bb288b46e9af483064eb929328f4	Obstructive @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+8fd1fa8371c603509b65d6cedfa12561c81ae27f	Rehabilitation and outcome of severe profound @PHENOTYPICFEATURE$ in a group of 16 infants affected by @DISEASE$.	false
+ba50bc00d4c1fde1f1fa3beb9a6091f568a21422	School failure and @PHENOTYPICFEATURE$ after "silent" @DISEASE$.	false
+6b6f01dcc01e7107a92fb2d5978873814a2cf6b9	@DISEASE$: a significant cause of @PHENOTYPICFEATURE$ and mental deficiency.	false
+bfffb0aaef202e25dd7085b2684189765405e722	DECIBEL study: @DISEASE$ in young children with permanent bilateral @PHENOTYPICFEATURE$ in the Netherlands.	false
+23885f057e014d302d46251b177e8fd7c2ec0d21	@DISEASE$ is the leading infectious cause of @PHENOTYPICFEATURE$, learning disabilities, and mental retardation in children.	false
+68f636dfec3691375fab180317a8656c9644e900	@DISEASE$ was present for 6% of newborns with confirmed @PHENOTYPICFEATURE$, and the majority of those infants were identified on the basis of abnormal newborn hearing screening results.	false
+270728b1ea9c741cb1b01fee5d40f9648632a48c	The subjects included 29 patients with congenital deafness of unknown cause, 8 with idiopathic progressive sensorineural hearing loss, 4 with postmeningitic deafness, 3 with Waardenburg's syndrome, 3 with @DISEASE$, and 8 whose @PHENOTYPICFEATURE$ had other causes.	false
+6c3f5fbaac17f5b93097ee5990658aa00dc7b84d	The subjects included 29 patients with @PHENOTYPICFEATURE$ of unknown cause, 8 with idiopathic progressive sensorineural hearing loss, 4 with postmeningitic deafness, 3 with Waardenburg's syndrome, 3 with @DISEASE$, and 8 whose deafness had other causes.	false
+d1548a6f5f2eb08746531bda25e7e294a1ef3c7a	The subjects included 29 patients with congenital deafness of unknown cause, 8 with idiopathic progressive sensorineural hearing loss, 4 with postmeningitic @PHENOTYPICFEATURE$, 3 with Waardenburg's syndrome, 3 with @DISEASE$, and 8 whose deafness had other causes.	false
+941eb048554258fce44281a03a1f479fe647114f	Vision impairment had been observed in 18% of children with @DISEASE$ compared to 35% of children with auditory impairment (bilateral @PHENOTYPICFEATURE$ had been found in half of them).	false
+9f69942de191076ad1dd7cc25aad45b022f9f58e	Subclinical @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fe31af849ba3158188b492a73b4846d1d060a5f7	2. The significant proportion of children with hearing loss in the course of @DISEASE$ indicates the need to carry out tests to identify infection in newborns with @PHENOTYPICFEATURE$ screening test.	false
+2aa46823d50fa7453191f978021519e169fb945a	Infection with tissue-invasive helminth infections characteristically induces immunological responses associated with immediate hypersensitivity such as IgE elevations, tissue and peripheral blood @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e7c28253040e269796f3b48be81280895652de9d	She has short stature, microcephaly, @PHENOTYPICFEATURE$, skin @DISEASE$ and microtia.	false
+c685ad040948ba11326b0b3b8a5451e2118f2d09	Systemic @DISEASE$ associated with hairy cell @PHENOTYPICFEATURE$.	false
+2955988acba95e28bcf7ffc05fe27c5aa914196e	@DISEASE$ with @PHENOTYPICFEATURE$ and calcinosis cutis.	false
+474d395e75b4c45fdbac348cec5ac7c1190dde82	We report a case of a 6-year-old girl who presented with @PHENOTYPICFEATURE$ calcinosis of her left knee in association with atypical @DISEASE$.	false
+fae21ecc6e245482d2192cab92874dc8901e4479	Considering biologic therapies, rituximab has shown promising results in treating both dermatomyositis and systemic sclerosis, whereas @PHENOTYPICFEATURE$ necrosis factor inhibitors might be useful for treating @DISEASE$ (level IV).	false
+56285afd697c1e1bd93c0c8c77993b4f6c3688bd	Genomic profiling reveals spatial intra-@PHENOTYPICFEATURE$ heterogeneity in @DISEASE$.	false
+8200433c1a352d9de7d4181fdbda8bb7da9049ed	Primary gastric @DISEASE$ manifesting as a submucosal @PHENOTYPICFEATURE$-like lesion.	false
+2c92b5a6f4eb5307bf5889b6579c06565c200b91	The @PHENOTYPICFEATURE$ microenvironment in @DISEASE$.	false
+35873b96a8a23f016ab1a6df7d94f08f0887a02e	Spontaneous @PHENOTYPICFEATURE$ lysis syndrome with @DISEASE$.	false
+d60b0949e12fc55214147fd39302e30503a85f18	Lymphomas occurring within Warthin @PHENOTYPICFEATURE$ are rare, however, @DISEASE$ is most commonly reported.	false
+132d0f9ff6753a1170507cf950a47d4053438692	Correction: Genomic profiling reveals spatial intra-@PHENOTYPICFEATURE$ heterogeneity in @DISEASE$.	false
+9dce8d62f00c9c86c9c26cad5075baf386170bfd	End of rituximab maintenance for low-@PHENOTYPICFEATURE$ burden @DISEASE$.	false
+af51df9f3816616d337af7f1ccf20e25f385a0b8	Indeterminate dendritic cell @PHENOTYPICFEATURE$ presenting in a patient with @DISEASE$.	false
+faef7d9260844372ca7151d5a7377880df769e24	Survival in follicular lymphoma (FL) is highly variable, even within prognostic groups defined by @PHENOTYPICFEATURE$ grade and the @DISEASE$ International Prognostic Index.	false
+b8ba3f7c4c391091e977a99d7199de182e6bed39	Survival in @DISEASE$ (FL) is highly variable, even within prognostic groups defined by @PHENOTYPICFEATURE$ grade and the Follicular Lymphoma International Prognostic Index.	false
+d6652854792e852822ba7cebae4a4855dbe02921	CD44 expression during @PHENOTYPICFEATURE$ progression of @DISEASE$.	false
+516af8dfdd2a9a2f6072df79b02b78c6aa7fb872	@DISEASE$ is an unusual cause of spontaneous @PHENOTYPICFEATURE$ in non-Asian populations.	false
+351dc83af807ae1af2d44c1a110b9947ae1a6e75	@DISEASE$ is a rare disease characterised by recurrent episodes of @PHENOTYPICFEATURE$ due to anti-insulin antibody.	false
+3b879be60cc497b022498bc99a752ebbe39cdde4	@DISEASE$ as a cause of spontaneous @PHENOTYPICFEATURE$ in alcoholic cirrhosis.	false
+736c19f422911674253edd0898bcc9bf0f845686	Insulin autoimmune syndrome (IAS, @DISEASE$) is a rare cause of spontaneous @PHENOTYPICFEATURE$, extremely high serum insulin levels and high titres of autoantibodies against endogenous insulin despite no prior exposure to exogenous insulin.	false
+7a590346a14d7d82bf18b8d3a1a31af6794a098c	@DISEASE$ (IAS, Hirata disease) is a rare cause of spontaneous @PHENOTYPICFEATURE$, extremely high serum insulin levels and high titres of autoantibodies against endogenous insulin despite no prior exposure to exogenous insulin.	false
+67e9e68585c66288ec2001bd630e96a00877c24d	The @DISEASE$ (IAS) is the third leading cause of spontaneous @PHENOTYPICFEATURE$ in Japan.	false
+7f09b20b547291764f8b59b085539238c5c62e20	Although @DISEASE$ (IAS) is the third leading cause of spontaneous @PHENOTYPICFEATURE$ in Japan, it is extremely uncommon in the Western Countries.	false
+668acb8750301e6c944d3b259e41c1a05cd8ee9a	@DISEASE$ is the third leading cause of spontaneous @PHENOTYPICFEATURE$ in Japan, where it has been associated with a variety of diseases and drugs.	false
+b01705a8889d29b4d9aecda58cb551ac3ef9d9a9	@DISEASE$ is the third leading cause of spontaneous @PHENOTYPICFEATURE$ attacks in Japan.	false
+2f8b5313fe57d5ca3935bf04997e7e33a0ec62ac	@DISEASE$ (IAS) is characterized by spontaneous @PHENOTYPICFEATURE$ caused by insulin autoantibodies in the absence of exogenous insulin administration.	false
+bf257e9af0d1c1e39ab7f68c5d73b4cf914af352	We encountered two patients who developed daytime @PHENOTYPICFEATURE$ and early morning hypoglycemia because of insulin antibody (IA) that the affinity was extremely lower and the capacity extremely higher than those of IA in the @DISEASE$, after their insulin treatment were changed from human insulin to analog insulin.	false
+087c80d0093dd119b4201c7cf080b759f69ed208	We encountered two patients who developed daytime hyperglycemia and early morning @PHENOTYPICFEATURE$ because of insulin antibody (IA) that the affinity was extremely lower and the capacity extremely higher than those of IA in the @DISEASE$, after their insulin treatment were changed from human insulin to analog insulin.	false
+648ab18a4d99d26e9532d7b7ab54a8c8e014e649	In this report, we describe two children with a severe early-onset form of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+449ebb25773b4ef5a076680c4ffaad89ba69a522	All five patients displayed the classical features of @DISEASE$ (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype.	false
+0aa417e6ea79f4ae6cdf2d39d2b4fbf52d19bc15	All five patients displayed the classical features of 3p- syndrome (mental @PHENOTYPICFEATURE$ retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic @DISEASE$ phenotype.	false
+3bb6772218898dc1ce941503831e4a1d0a342b71	The former patient showed characteristic clinical manifestations of the @DISEASE$, including @PHENOTYPICFEATURE$, mental retardation, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+b9042c1f32f6a6577dddfa12eb64dfec3d4a3aae	@DISEASE$ @PHENOTYPICFEATURE$ disease management in 3 tertiary care centers: key clinical components and venues of care.	false
+fb30297822c1c003809bab0ebbb9d6d741632bcd	The most common malformations of trisomy @DISEASE$ are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and @PHENOTYPICFEATURE$.	false
+faa81002d92de9476683f3da4567a5e39d2a4258	In this report, we describe the first concluded case of a de novo germline @PHENOTYPICFEATURE$ in CDH1 in a @DISEASE$ (HDGC) kindred.	false
+f04a0d502eb76817c1b2400e9fb83520698f5a9d	@DISEASE$ (CIDP) is an immune mediated treatable @PHENOTYPICFEATURE$, the diagnosis of which is straightforward in more than half of cases.	false
+b18b83594bcc3852398fa3a1b0ae1a6e5720bf0e	The presentations of @DISEASE$ (CIDP) overlap with those of diabetic @PHENOTYPICFEATURE$ (DPN).	false
+f04a0d502eb76817c1b2400e9fb83520698f5a9d	@DISEASE$ (CIDP) is an immune mediated treatable @PHENOTYPICFEATURE$, the diagnosis of which is straightforward in more than half of cases.	false
+8033833a6b2a82148f26337111d7646cf7b25988	@DISEASE$ is an acquired, presumably immune-mediated @PHENOTYPICFEATURE$, characterized by symmetric sensory-motor involvement.	false
+862f1541a19ba46fe3260c79c7c3c7bddf76ab75	@DISEASE$ (CIDP) is a chronically progressing or relapsing disease caused by immune-mediated @PHENOTYPICFEATURE$.	false
+c91a1081466646faa101e4eb6c2e8a4833d7ff3b	@DISEASE$ (CIDP), an immune-mediated @PHENOTYPICFEATURE$, is frequently treated with long-term maintenance intravenous immunoglobulin (IVIG).	false
+fe202e22cc9f2aa595f29ba8e922409936000433	@DISEASE$ (CIDP) is probably the best recognized progressive immune-mediated @PHENOTYPICFEATURE$.	false
+c2e0cdf34dc3a458c9a4aa08b159bc14a0c3ec14	@DISEASE$ (CIDP) is a disorder characterized by a symmetrical, sensorimotor involvement and slowly progressive onset @PHENOTYPICFEATURE$.	false
+b6b8bc93385bbeb7a0311ac9c14a330b295d2427	@DISEASE$ (CIDP) is an autoimmune-mediated @PHENOTYPICFEATURE$ with multifocal involvement.	false
+cf85dab4276f4682e5b1b4248394cec16a21304b	@DISEASE$ (CIDP) is an acquired, immune-mediated @PHENOTYPICFEATURE$.	false
+3d0158d123aa7d8fe806d605c5fe0a0979836ccd	Mutations in Esco2 cause @DISEASE$, a developmental disease characterized by severe prenatal retardation as well as limb and @PHENOTYPICFEATURE$.	false
+af5f3eeb8538a86164eb6e52b0245d54f4f3dabb	Twin 1 showed subcutaneous @PHENOTYPICFEATURE$, pleural effusion, and mesomelic limb shortening, suggestive of lethal skeletal dysplasia (@DISEASE$).	false
+290add02802908e0e11e8378df2794007144bbff	@DISEASE$ is a rare autosomal recessive condition characterized by growth retardation, cranio-@PHENOTYPICFEATURE$ and symmetrical limb reduction of variable severity.	false
+66c410707e59399dc0028a7f5b31189bdce1606d	Specific final diagnoses included thanatophoric dysplasia (8), osteogenesis imperfecta (6), @DISEASE$ (2), achondroplasia (3), Ellis-van Creveld syndrome (1), @PHENOTYPICFEATURE$ (1), spondyloepiphyseal dysplasia (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1).	false
+58d1ab7da80d97d294112110728d323b460627e7	We report a case of @DISEASE$ in a 65-year-old woman who presented with generalised itching, @PHENOTYPICFEATURE$, facial puffiness, difficulty in swallowing and loss of appetite.	false
+61e619ad7c3b91098944688026b05954c107827d	@DISEASE$ is a rare disease of unknown aetiology, commonly presenting with slow-growing head and neck @PHENOTYPICFEATURE$, lymphadenopathy, eosinophilia and elevated immunoglobulin E. This report describes a very rare case of a 41-year-old female, of White-British ethnicity, with a new diagnosis of Kimura's disease of the parotid gland and associated cutaneous features.	false
+7f451f70e781eb78fd4c60f24e8516942d74e202	@DISEASE$ (KD) is a rare, chronic, benign inflammatory disorder of unknown etiology mimicking neoplastic disease and is characterized by multiple @PHENOTYPICFEATURE$ and masses, primarily in the cervical region, accompanied by peripheral eosinophilia and lymphadenopathy.	false
+a385f40a86ef9273453e0b8eaca9dcfaca3970a0	@DISEASE$ (KD) is a rare chronic inflammatory disease of unclear etiology, characterized by @PHENOTYPICFEATURE$, mainly in the head and neck region, frequently associated with regional lymphadenopathy.	false
+bdf9c9434bc990f5a1021117327b5f770fcc89d3	A study of RBC membrane functions was performed in four patients suffering from @DISEASE$ who had permanent @PHENOTYPICFEATURE$.	false
+4a3aa1995130515a869f57356075ffaf19eccdb6	@DISEASE$ (HOPP) is a rare disease associated with attacks of @PHENOTYPICFEATURE$ and hypokalemia.	false
+aff6561e1d995ee46d23eb3bca07d2c1b4b77adc	@DISEASE$ (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of @PHENOTYPICFEATURE$ and hypokalemia.	false
+67ce1df0249f804a6e70402c5800fbe33b0a2ee3	Three patients with @DISEASE$ (HOPP)-associated progressive interattack @PHENOTYPICFEATURE$, who became unresponsive or worsened by acetazolamide, responded favorably to dichlorophenamide, a more potent carbonic anhydrase inhibitor.	false
+85f4038e68b63ce7dc2d65e9d561d6a09d6488bf	@DISEASE$ mutated kinase: a potential new target for suppressing inflammation in @PHENOTYPICFEATURE$?	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4a419250da9e54784615a5278125b47ee8823896	@DISEASE$ (A-T) patients can develop multiple clinical pathologies, including neuronal degeneration, an elevated risk of cancer, telangiectasias, and @PHENOTYPICFEATURE$.	false
+068757bc37b34115ef80bf4f7f3600ea11600d44	@PHENOTYPICFEATURE$ and growth hormone deficiency in patients with @DISEASE$.	false
+9239646b3490e759846f2d4defd5f1e423efa026	@DISEASE$ and rad3 (ATR)-related Seckel syndrome is associated with @PHENOTYPICFEATURE$ and premature aging features.	false
+4084021cd8e55a01d3558d31ed006b29795a854b	@DISEASE$ (AT) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, cerebellar ataxia, oculocutaneous telangiectasias, and a high incidence of lymphomas and leukemias.	false
+4586bd16615f24c0dcefc836fd81ce08c27d90e4	One prominent feature of patients with the autosomal recessive disease @DISEASE$ (AT) is somatic @PHENOTYPICFEATURE$.	false
+567cf90d06ccedaeff013fd5680a6500214306d7	@DISEASE$ mutated kinase is an autophagic balancer at the onset of @PHENOTYPICFEATURE$.	false
+b93bc55dd64c09dc5397b9a550392891b429759b	@DISEASE$ (A-T) is a recessive autosomal disorder associated with pleiotropic phenotypes, including progressive cerebellar degeneration, gonad atrophy, and @PHENOTYPICFEATURE$.	false
+1839888d1cff81065669a475b83a330885cdbaf7	Nijmegen breakage syndrome (NBS), @DISEASE$ and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as @PHENOTYPICFEATURE$, microcephaly, cerebellar developmental defects and ataxia.	false
+f427e5bbb7da5dba2a56e932cbfe98dd3d2ad15b	This study enrolled seven Chinese patients with LIG4 deficiency who presented with @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	false
+89b1f7ff1a41e09ecfacecddc9dfcfde31be8fab	Defects in LIG4 result in a variable syndrome of @PHENOTYPICFEATURE$, pancytopenia, @DISEASE$, cellular radiosensitivity, and developmental delay.	false
+0c722e3407aebd59822e634d5dca77bdf0a19181	Primary @DISEASE$, @PHENOTYPICFEATURE$, and disturbed sexual development: a novel syndrome of congenital impairment of the cellular immune system and the endocrine system.	false
+1db5ac71a976e1b468a282867b74d7059474eb22	, associating with early-onset @PHENOTYPICFEATURE$, antibody deficiency, and features of @DISEASE$.	false
+8b7a88ffcd5380dc26b7a7852bbe11b176c780ed	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+166e1071897f56f755108286e7b98f29bd6e4a01	Clinical manifestations include microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and a strong predisposition to develop (mainly lymphatic) malignancies.	false
+306ab7e6d6c833f4b551068fb3087f21bca98c61	@PHENOTYPICFEATURE$ and @DISEASE$ were the most common causes of liver disease.	false
+2584c579ece39f47addf9a71f2eb2c5b973a7c78	The four recipients had the following indications for OLT: two glycogen storage disease, one @PHENOTYPICFEATURE$, and one @DISEASE$.	false
+c315c055e5f18a1499e0867a4083ec6e7f13adfb	Hepatic infarction and @DISEASE$ in children with extrahepatic @PHENOTYPICFEATURE$ and cirrhosis.	false
+2d6646ba62e3687c914cd967c01ea4e0a01f12fb	Incidence and pathophysiology of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+20ad41febee76769540bddfcb59da392cecafc8c	Tissue was obtained from hepatectomy specimens of patients undergoing liver transplantation for extrahepatic @PHENOTYPICFEATURE$ (EHBA) and @DISEASE$ (FHF).	false
+cb79e22416f2ae856abc90b0527d348d3d5036b7	The clinical syndrome is manifested with signs consistent with profound hypoglycemia, hypokalemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b54549e0c7e64273107842be0c9ef3db5207568c	The most common diagnosis was extra-hepatic @PHENOTYPICFEATURE$ (59%) followed by alpha-1 antitrypsin deficiency and @DISEASE$ (14% each).	false
+24d90877d3f40180f7112f904e7ee4b0377c8ff1	@DISEASE$ with marked @PHENOTYPICFEATURE$ was diagnosed.	false
+18d0d3087803efed3658cc58a3390600809ffd6f	The indications are congenital cholestatic diseases, mainly @PHENOTYPICFEATURE$, metabolic disorders and @DISEASE$.	false
+cce60341593ff8e9a4eca507192d9f5d6a6b8106	@DISEASE$ developed in four patients (aged 7 to 13 months) who had extrahepatic @PHENOTYPICFEATURE$ treated initially by portoenterostomy.	false
+0c8c4e06239cda905b774f07e6903e0d5e25a4b7	Twenty-seven percent of patients with @PHENOTYPICFEATURE$ had biochemical evidence of @DISEASE$, while 38% had evidence of B-6 deficiency.	false
+fd4f080958d5f49b2887f49f0e847b3b45828eff	Seven (70%) patients had infectious pneumonia (adenovirus, herpes simplex, influenza virus, cytomegalovirus, respiratory syncytial virus, and toxoplasmosis), and three patients presented with non-infectious complications (@DISEASE$ and acute @PHENOTYPICFEATURE$).	false
+c6b825c90e6e446658c2bf28cd54c33c47feb25c	The final diagnoses in the BAL non-diagnostic group were: bacterial pneumonia (n = 6), CMV (n = 6), @DISEASE$ (n = 5), cancer recurrence (n = 4), cardiogenic @PHENOTYPICFEATURE$ (n = 4), and others (n = 9).	false
+90a67dd8e4cf12c64274b97da0d684fac1b65b21	This report describes a patient with @PHENOTYPICFEATURE$ (BA) associated with polysplenia syndrome who showed a rapid progression of intrapulmonary arteriovenous shunting (@DISEASE$), resulting in a fatal outcome.	false
+263531f4651c868a9480a3eeacd568c5a76980b8	The main noninfectious complications were acute @PHENOTYPICFEATURE$ (APE) (59 [4.7%]), diffuse alveolar hemorrhage (DAH) (26 [2.1%]), peri-engraftment respiratory distress syndrome (PERDS) (31 [2.5%]), and idiopathic pneumonia syndrome (@DISEASE$) (12 [1.0%]).	false
+47472dba94597b3206537d09312b5cc930a54ca1	The main noninfectious complications were acute @PHENOTYPICFEATURE$ (APE) (59 [4.7%]), diffuse alveolar hemorrhage (DAH) (26 [2.1%]), peri-engraftment respiratory distress syndrome (PERDS) (31 [2.5%]), and @DISEASE$ (IPS) (12 [1.0%]).	false
+c156f1401dc9c98444732013908dcb44b3b8cc73	LRLT is an effective treatment for @PHENOTYPICFEATURE$ with @DISEASE$.	false
+bceb499aeee92d2e1235c1b03cbae3357de30906	Fifty consecutive patients with @PHENOTYPICFEATURE$ were examined for @DISEASE$ using contrast echocardiography before and after LRLT until IPS disappeared.	false
+5f781ce65fc646f2f46c02b3b447c4cb239ae19b	The non-infection pulmonary complications most frequently found were: bronchiolitis obliterans, bronchiolitis obliterans organizing pneumonia, @PHENOTYPICFEATURE$, @DISEASE$, delayed pulmonary toxicity syndrome, diffuse alveolar hemorrhage, engrafment syndrome and pulmonary cytolitic thrombi.	false
+4b3ec6b7a92537207f438af715161683176f2b77	Phase 1 (Days 1-30) includes @PHENOTYPICFEATURE$; diffuse alveolar hemorrhage; and various bacterial, fungal, and viral infections; Phase 2 (Days 31-100) usually requires a distinction between cytomegalovirus pneumonitis and @DISEASE$; and Phase 3 (Day 100+) includes complications that are due to chronic graft-versus-host disease and associated bronchiolitis obliterans.	false
+c116fe028bf00d6b12685546dbb7e325dfdfce50	Removing BMP signals to the interdigit by deleting the receptor gene, Bmpr1a, causes a loss of PCD and @PHENOTYPICFEATURE$, thereby unequivocally proving that BMPs are direct triggers of @DISEASE$ in this tissue.	false
+c813bc536d9eb91308242274a0d06e059abaaeb6	Removing BMP signals to the interdigit by deleting the receptor gene, Bmpr1a, causes a loss of @DISEASE$ and @PHENOTYPICFEATURE$, thereby unequivocally proving that BMPs are direct triggers of PCD in this tissue.	false
+75f8c1d7967b334bb8831a448e8edcba7a416425	Mice injected with @DISEASE$/LEMS IgG developed marked, reversible @PHENOTYPICFEATURE$ compared with those injected with LEMS or control IgG.	false
+d21bbd66dfce92f281ecf8ac9969eeb3c7de5d8b	Exposure to antibiotics containing pivalic acid was associated with @PHENOTYPICFEATURE$ and progression to lethal cardiac arrhythmia in patients suffering from @DISEASE$.	false
+2deae477936a484e8fa2b5bc7b9ef8fa6b5c7f73	Paraneoplastic cerebellar degeneration (@DISEASE$) presents with acute or subacute onset of @PHENOTYPICFEATURE$, dysarthria, and intention tremor.	false
+8273bd6b6ccdc9414b66040536a02fb449fed9b5	The analysis of the possible etiology suggested that the @DISEASE$ was induced by lung cancer, which led to @PHENOTYPICFEATURE$.	false
+be5e5a5cdb7bdbb4bd493b4e1116aee0583dc3a3	While @PHENOTYPICFEATURE$ dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed ataxic-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+2212dee856f9b36e39f5dc7e9705fae77b80a774	While ataxic dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed ataxic-spastic dysarthria in the setting of a more diffuse @PHENOTYPICFEATURE$ should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+6d5dba97229d1913c5551273921be79c777d0e05	While ataxic @PHENOTYPICFEATURE$ was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed ataxic-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+e14c479b0804bd5dd15b48e39cf4c53d158b1f8a	While ataxic dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an @PHENOTYPICFEATURE$ or mixed ataxic-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+8fb10007d72c5084c4f537c0fcbf15201acba2a8	While ataxic dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed @PHENOTYPICFEATURE$-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+75f6e74cf7682416f330873322c8d824e87996fb	The clinical presentation of @DISEASE$ commonly includes @PHENOTYPICFEATURE$, visual disturbances, and dysarthria.	false
+b68dc834de1409d82adc7946872511a0712f3fd4	In vivo, reduction in interdigital vessel number inhibited @DISEASE$, resulting in @PHENOTYPICFEATURE$, whereas an increment in vessel number and distribution resulted in elevation and expansion of PCD.	false
+0f9f3a3ebdabbe87559d9935be4f0b5c7e95d960	In vivo, reduction in interdigital vessel number inhibited PCD, resulting in @PHENOTYPICFEATURE$, whereas an increment in vessel number and distribution resulted in elevation and expansion of @DISEASE$.	false
+a8b54a1f498c23ff0e20b86c66e069075bf3fbc5	Paraneoplastic cerebellar degeneration (@DISEASE$) is a rare disorder presenting typically with acute or subacute severe @PHENOTYPICFEATURE$.	false
+d496eb8647401404cf9298dc72c7a9aebe625fae	Presented here is the case of a paraneoplastic @PHENOTYPICFEATURE$ (@DISEASE$) in a female patient with breast cancer and the indication of anti-Yo antibodies in the cerebrospinal fluid (CSF) and serum.	false
+c03118add95a144eb229c5a06397a4f604118294	A @DISEASE$ featuring @PHENOTYPICFEATURE$ and external ophthalmoplegia, concomitant with the novel histopathological phenotype showing fibres with large, poorly delimited areas of myofibrillar disorganization and internal nuclei, is highly suggestive of an RYR1-related congenital myopathy.	false
+a683868dda95e3e801b4eadd7cc22fc417268b64	A congenital myopathy featuring @PHENOTYPICFEATURE$ and external ophthalmoplegia, concomitant with the novel histopathological phenotype showing fibres with large, poorly delimited areas of myofibrillar disorganization and internal nuclei, is highly suggestive of an RYR1-related @DISEASE$.	false
+fc3df7d63c65dafe586f32a1dd98c2d236b785bb	Signs and symptoms vary from a severe form of @DISEASE$, present from birth and often fatal, to a classic form and a delayed form, which generally presents after the age of 50 and in which the only sign is a @PHENOTYPICFEATURE$ and life expectancy is completely normal.	false
+d9dacf6863b73b4d52a995eb171031a3e88fa605	We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this @DISEASE$ including clear ocular @PHENOTYPICFEATURE$ in only one and facio-scapulo-peroneal syndrome in another patient.	false
+6ee2a6f59333f2ca00cf6572fb13420b40ba577b	Surgery for @PHENOTYPICFEATURE$ in patients with @DISEASE$ (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy).	false
+58a6bbab28c6dd48c8655f35dd6896e11d69c02c	This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, @PHENOTYPICFEATURE$ with ocular malformations, severe psychomotor retardation, @DISEASE$ and a very limited life expectancy.	false
+133b1ec8ea50564cf96e0c788493a3bea95f356e	We present cases of three patients who underwent surgery for @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+082f1ac9e24d737b4ad91a62060efe57fb9f19da	Differential diagnosis between acute cardiogenic @PHENOTYPICFEATURE$ (@DISEASE$) and acute lung injury/acute respiratory distress syndrome (ALI/ARDS) may often be difficult.	false
+bdd9fc07d8b47c9f4cd1880fa934693522bb09be	Acute @PHENOTYPICFEATURE$ (@DISEASE$) is a common cause of acute dyspnea.	false
+c6234b4dfbb8eba5e3ce4a46a0cc9a50b709a3bd	Acute @PHENOTYPICFEATURE$ (@DISEASE$) often occurs without remarkable fluid retention, and the benefits of diuretics are unclear in such patients.	false
+9a77f9505d309a1c74e8adaeb6766969ff5ece38	The role of acute arterial hypertension in acute @PHENOTYPICFEATURE$ (@DISEASE$) as an associated or triggering phenomenon has been poorly investigated and is relevant to patient management.	false
+348d684df81fd3ca682521e22235b28d44b4e8c8	The patient was diagnosed with hypereosinophilia, @DISEASE$ fibrosis, and basal @PHENOTYPICFEATURE$.	false
+ec9a618b408cbac048ee51f041481cf803f146d8	Patients with Tako-tsubo syndrome most frequently develop acute LV failure, @PHENOTYPICFEATURE$, rhythm and conductive disturbances and @DISEASE$ thrombosis.	false
+be39b079daeb1a89255cab5c80b5875b7eaaec47	Herein, we described the radiological features of three patients with pulmonary and SLE-associated @DISEASE$, manifested with @PHENOTYPICFEATURE$, capillaritis and alveolar hemorrhage.	false
+979d4d35e938123cfb566d030ead4428a3adb107	Giant precordial T wave inversion (GPTI) on ECG may be the result of several pathologies, including myocardial ischemia, @PHENOTYPICFEATURE$, pulmonary embolism, subarachnoid hemorrhage, @DISEASE$ hypertrophy, and postpacing.	false
+29db6c7514961aeb80c625f7bce1baf1deb5a2cd	Primary @DISEASE$ may have caused adrenal infarction in the patient, leading to transient @PHENOTYPICFEATURE$ via microthrombosis and/or excessive release of catecholamine.	false
+1154a494503b201f656bb07387f67ff9ed9bc8df	Acute @PHENOTYPICFEATURE$ (@DISEASE$) is a common Emergency Department (ED) presentation requiring admission to an intensive care unit (ICU).	false
+09dc2a3d1a1bbb323e22b65df67fa1b90acd4263	Using radio-labelled immunoprecipitation and previously validated ELISAs we examined the presence of myositis specific autoantibodies in 380 patients with juvenile-onset @DISEASE$ in addition to, 318 patients with juvenile idiopathic arthritis, 21 patients with juvenile-onset SLE, 27 patients with @PHENOTYPICFEATURE$, and 48 healthy children.	false
+5ac0c742022af34f0a5c1bf2cccae8acd0110267	Initially, these patients presented with a noncardiogenic @PHENOTYPICFEATURE$, eosinophilia, arthralgia/arthritis, peripheral edema, and @DISEASE$.	false
+69d4f487a7ad2ff2dc6d9a0ccf38227175b56f32	Previously excluded were patients with intracranial or orbital tumors, ocular @DISEASE$ or @PHENOTYPICFEATURE$, multiple sclerosis, endocrine orbitopathy, head trauma, cerebral hemorrhage or aneurysms, leucaemic infiltrates or metastasising tumors.	false
+1e670836014cd8ab8fe31402523268698527f771	The creatine kinase level was abnormally high (>225 IU/l) in 80% of the cases, increased in all patients with @PHENOTYPICFEATURE$ or @DISEASE$, in 88.8% of patients with systemic myopathy and 66.6% of patients with myotonia.	false
+d2c9c19cafd288d9b7316753f4768b55b992579f	Detection of GALK-D by @DISEASE$ and early start of galactose-restricted diet resulted in regression or prevention of @PHENOTYPICFEATURE$.	false
+4f41b4a0b0e14801b460b8e966fc32f6ae83e3a9	No evidence of significant silencing of Fanconi genes FANCF and FANCB or @DISEASE$ gene NBS1 by DNA hyper-methylation in sporadic childhood @PHENOTYPICFEATURE$.	false
+122a3955e1634f492221274ff4a23f376629978a	More than 43% of the newborns with DS who passed their @DISEASE$ developed a @PHENOTYPICFEATURE$ requiring insertion of ventilation tubes.	false
+790df959dc42a851b5c44c077c80d8200550c195	Atypical clinical picture of the @DISEASE$ associated with developmental @PHENOTYPICFEATURE$.	false
+98be49f6604442dbafeb51f92d17873547467cb4	A 23-year-old @DISEASE$ patient presented with @PHENOTYPICFEATURE$, thrombocytopenia, and hyperlymphocytosis.	false
+67e70415df9990f39f8bf0cd0707dfce4a4898a9	Multiple squamous cell carcinomas can be related to: xeroderma pigmentosum, Ferguson-Smith, Muir-Torre syndrome, Mibelli-type porokeratosis, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Rothmund-Thomson syndrome, @DISEASE$, and epidermodysplasia verruciformis.	false
+2419027aa576dd952df65f72388e2fd5122bff12	Although the exact mechanism of this rare association is unknown, the intrinsic vulnerability of intracranial vascular wall structures and the increased vascular permeability in @DISEASE$ may partly explain the paradoxical association of hypoperfusion and local vasogenic @PHENOTYPICFEATURE$.	false
+424da619ef39520c9c01ea7f420824b23ac97671	Minocycline, a neuroprotective antibiotic agent, plays a role in blocking matrix metalloproteinase 9 (MMP-9), which contributes to @PHENOTYPICFEATURE$ formation and hemorrhagic conversion after cerebral ischemia-reperfusion. Patients with @DISEASE$ have been shown to have increased serum MMP-9 levels.	false
+3dbb491312cfb13bf8aab4591a4ce1216b7ad817	@DISEASE$, @PHENOTYPICFEATURE$, aganglionosis, and short stature.	false
+493e36a3578993a3011e40fed90b9f09221861dc	Cerebral hypoperfusion is a contradictory postoperative pathophysiological condition implicated in @DISEASE$, but its association with symptomatic local vasogenic @PHENOTYPICFEATURE$ has not been reported.	false
+bf65fee5439e729db51ca53ff7aca86d1675c286	The novel SCLI score may be useful for diagnosing TNEs after revascularization surgery for @DISEASE$, although both vasogenic and cytotoxic @PHENOTYPICFEATURE$ may be involved in postoperative TNEs.	false
+98a303c75fbd29ead7ce7cb39611a0637e4235ad	Vasogenic @PHENOTYPICFEATURE$ may be associated not only with cerebral hyperperfusion but also with hypoperfusion after STA-MCA anastomosis for @DISEASE$.	false
+3b4aee251f7c1d0e13c82aa7cf7e8c4450f4cd24	Lesions associated with @DISEASE$ were segmentary @PHENOTYPICFEATURE$ (19.5% vs. 12.7% in EGPA and 4.3% in GPA) and livedo (12.4% vs. 0.5% and 2.6%, respectively), whereas those associated with EGPA were urticarial lesions (11.5% vs. 1.9% in GPA and 3.5% in MPA) and nodules (12,2% vs. 8.9% in GPA and 4.7% in MPA).	false
+de2504b895caa626cddb8a3d3cdc5f48bda882d5	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with @DISEASE$-face hypoplasia, @PHENOTYPICFEATURE$, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+449d0b46cc01cee59fc9a8402edf4ef6e8451abb	While, compound 16k exhibited potent broad spectrum anticancer activity with full panel GI50 (MG-MID) value of 3.62 ?M, compound 21d showed high selectivity toward leukemia and @PHENOTYPICFEATURE$ subpanels [subpanel GI50 (MG-@DISEASE$) 3.51 and 5.15 ?M, respectively].	false
+1433cf6a7804b09e8745747f1731948316c46072	While, compound 16k exhibited potent broad spectrum anticancer activity with full panel GI50 (MG-@DISEASE$) value of 3.62 ?M, compound 21d showed high selectivity toward leukemia and @PHENOTYPICFEATURE$ subpanels [subpanel GI50 (MG-MID) 3.51 and 5.15 ?M, respectively].	false
+8638ca9fb1794817cdd791937384f565cdfd546c	Occasionally, patients with mitochondrial disorder (@DISEASE$) develop @PHENOTYPICFEATURE$ (MH)-like reactions or show an abnormal halothane-caffeine in-vitro contracture test.	false
+b59d80c4aaf02ab4e059412a6632d665bcdd7162	Multi-infarct dementia (@DISEASE$) is a heterogeneous entity in which a variety of cerebrovascular disorders leads to @PHENOTYPICFEATURE$.	false
+a75a02bc49baf76d3e77b3b6e844a8eb531ef78e	Cerebral atrophy (measured as the ratio of volumes of cerebrospinal fluid to total brain area) for DAT patients was 17.0 (6.7)%, which was greater than for @DISEASE$ patients (12.5 (5.4)%; p < 0.05) and both types of patients showed more @PHENOTYPICFEATURE$ than did age matched, elderly normal subjects.	false
+05f09250a1e0534e9643f0d604073301d7c3eed3	@PHENOTYPICFEATURE$ (measured as the ratio of volumes of cerebrospinal fluid to total brain area) for DAT patients was 17.0 (6.7)%, which was greater than for @DISEASE$ patients (12.5 (5.4)%; p < 0.05) and both types of patients showed more cerebral atrophy than did age matched, elderly normal subjects.	false
+50b3e5f5a878a3dd6a63406073ee1995b22d3dee	Diagnosis is based on the following criteria: developmental delay from early age, absent speech (or speech limited to less than six words), jerky movements with an @PHENOTYPICFEATURE$ if the patient is walking, paroxysm of inappropriate laughing, dysmorphic craniofacial features (brachycephaly, @DISEASE$-facial hypoplasia, deep set eyes, macrostomia, prominent mandible).	false
+feb0037b72f0a006ac1419b15fd61e9345dc155d	@DISEASE$ (MD) is a @PHENOTYPICFEATURE$ disorder characterized by a chronic hyperglycemia and is maternally transmitted.	false
+366d0189ecaab470874f1ffa782c6c70ae4216a9	Postnatally, the infant showed frontal bossing, a flattened nasal bridge, @DISEASE$-facial hypoplasia, low-set ears, a right upper deciduous tooth, grooved palate, nuchal fold thickening, widely spaced nipples, left ulnar @PHENOTYPICFEATURE$, simian creases, flexion contractures of the right middle finger, shortened upper extremities, undescended left intraabdominal testis, and right inguinal testis.	false
+6f99a99612bb12263ebc4b5cbb1fb2db1b92d3c0	The authors report on the clinical course of two infants with @DISEASE$ (HA) and concomitant progressive @PHENOTYPICFEATURE$ that required management with a ventriculoperitoneal shunt.	false
+aa786dcd01cd910622d2a4f3ce60b63a0f124d60	We describe a 64-year-old male with @DISEASE$ (factor VIII-dependent), acute myocardial infarction (MI) and @PHENOTYPICFEATURE$ (CHF) who underwent successful multi-vessel percutaneous coronary intervention (PCI).	false
+7c5fe0bd231f9c9679654b91e948b142617e9c9e	Management of @PHENOTYPICFEATURE$ in infants with @DISEASE$: report of 2 cases.	false
+8dcbd9d4a98947164a7e4b8d37346834bbb12385	Here, we report of a 24-year-old male with mild @PHENOTYPICFEATURE$, dysmorphic features, and a phenotype consistent with @DISEASE$.	false
+1d3014337bc2b40bea02142c746ecdddc7c2a3ad	Iris coloboma, blepharophimosis, arachnodactyly, @PHENOTYPICFEATURE$: Beals syndrome and @DISEASE$ phenotypic similarities.	false
+a94ac41ab0b9aca671c3b54e086a646221c75d5d	This is the fifth report of @DISEASE$, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting @PHENOTYPICFEATURE$, and distinctive skeletal findings.	false
+40734886b872e2d7c49cf68a3c09570adb103d00	Since then, nine total patients have been reported with @DISEASE$ (VDEGS), and the syndrome's phenotype has been found to also include additional dysmorphic facial features, @PHENOTYPICFEATURE$, and slender skeletal features.	false
+98939313d78d93a2b8850734849c95562519d4cf	Since then, nine total patients have been reported with van den Ende-Gupta syndrome (@DISEASE$), and the syndrome's phenotype has been found to also include additional dysmorphic facial features, @PHENOTYPICFEATURE$, and slender skeletal features.	false
+12bd1c1d2573353555d4a1b7051db13af6f9e5c1	Excess levels of FGF23 cause renal phosphate wasting and suppression of circulating 1,25(OH)2 D3 levels and are associated with several hereditary hypophosphatemic disorders with @PHENOTYPICFEATURE$, including X-linked hypophosphatemic rickets (XLH) and @DISEASE$ (ARHR).	false
+8e8b4aeb0ee593921354587101203a705748a776	This disease is characterized by megaloblastic anemia of early appearance, @DISEASE$, seizures, and @PHENOTYPICFEATURE$.	false
+d2e67fed8236acce4493170130247bcd17256678	Here we highlight families with @PHENOTYPICFEATURE$ and diabetes, renal coloboma and @DISEASE$, and a child with microdeletion of chromosome 19q who had a rare combination of malformations.	false
+70d404ac6da378e9b9043cd761ed62c170cc3a8d	@PHENOTYPICFEATURE$ are rare among patients with @DISEASE$.	false
+3692930a99f133c12db1e04e14d2b1f19807a073	Syndromic ichthyosis with prominent @PHENOTYPICFEATURE$ covers five major subtypes: Netherton syndrome, trichothiodystrophy, @DISEASE$, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+76790cef2c6cfb1db2e3b8a63d0ecc1d3514d560	The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau @PHENOTYPICFEATURE$ suppressor gene, resulting in @DISEASE$.	false
+1d2b08c17694943bda59b5032cf4ed8ebf51b426	Zebrafish mutants in the von Hippel-Lindau @PHENOTYPICFEATURE$ suppressor display a hypoxic response and recapitulate key aspects of @DISEASE$.	false
+d129d1c0bb785ee34762543e0c09a69933fc243d	Congenital disorder of oxygen sensing: association of the homozygous @DISEASE$ VHL mutation with thrombosis and vascular abnormalities but not @PHENOTYPICFEATURE$.	false
+de6001af78d31a12d9ec1e3db4f1dd7b0ac76395	The R200W mutation in the von Hippel-Lindau (VHL) tumor suppressor protein (pVHL) is unique in that it is not associated with @PHENOTYPICFEATURE$ development, but rather with @DISEASE$, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF.	false
+a6c7539d6fdbd6cfe0a06ac261877dca1634ab05	@PHENOTYPICFEATURE$ and congenital @DISEASE$ pigment epithelium associated with submicroscopic deletions of 13q33.3-q34	false
+0a206363f2a01e07d766d36b12f597b44593ec4b	We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature @DISEASE$ in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical @PHENOTYPICFEATURE$, and seizures.	false
+6f309274b78503ee7af086299489e4aef8f2cd8f	This study describes a 21-year-old woman with orbitopalpebral NF, who underwent evisceration for pseudophakic bullous keratopathy, intractable @PHENOTYPICFEATURE$, and absolute painful eyes and who was found to have choroidal @DISEASE$ and retrobulbar plexiform neurofibroma on histologic examination.	false
+875491dc7770ae24b4e8058cfa46f8881c41b17d	We report a case of a 21-year-old man with gradual @PHENOTYPICFEATURE$ and a minimally enhancing lesion of the internal auditory canal, which was excised through a middle fossa approach and found histologically to be a @DISEASE$.	false
+1e347ed82f09346a77ac4e7a4db6dd17ee90ad2a	The functional consequences of p.I12T differ from BSND mutations that cause renal failure and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+bad738e3a80d718abb613b9c5f699ede8dcf694a	To date, all mutations of BSND have been shown to cause @DISEASE$, characterized by significant renal abnormalities and @PHENOTYPICFEATURE$.	false
+56dffac4f893a2ee9d23d090cabb15a3f5064031	The activity of this lysosomal enzyme is deficient in @DISEASE$ (AGU), a recessively inherited lysosomal accumulation disease resulting in @PHENOTYPICFEATURE$.	false
+3046d22b50f6a4769ea8cde4a08a0b37c83dfaa2	@DISEASE$ (AGU) is a lysosomal storage disease resulting in @PHENOTYPICFEATURE$.	false
+9b10993a1e8dc07a5ecaf69d595b18cc39270368	@DISEASE$ (AGU) is a lysosomal storage disorder of glycoprotein degradation characterized by @PHENOTYPICFEATURE$ and connective tissue alterations.	false
+f18e01954012d9dd4ba95585d5108e02ee864ead	Although the two enzymatic defects, both autosomal recessive traits, are associated with @PHENOTYPICFEATURE$, the patient was less retarded than his sister who had only @DISEASE$.	false
+6f29ff08dace268cbbbe1f65c28fdba50ac74e45	Cutaneous biopsy samples were taken at different moments, showing features of @DISEASE$ at first, and 2 months later changes consistent with @PHENOTYPICFEATURE$ and repigmentation were observed.	false
+c2af11e37c39aa0cac382d3d01a1252a7f6947c0	Although significant correlation cannot be established, we concluded that nausea, @PHENOTYPICFEATURE$, muscle pain, jaundice, increased ESR and total bilirubin level should alert the physician about the possibility of renal involvement in @DISEASE$ patients with prolonged fever.	false
+a1e7d9c0fed7028043205824d6d5d3eb4e0a31ed	K.K.K. Lundsgaard's spectacle collection and @PHENOTYPICFEATURE$ @DISEASE$, Gordon Norrie's colour vision lantern and his personal pince-nez are described.	false
+5d87ad08cab16c3d30dddbb06b742ee51e7470e4	Three cases are reported where pre-existing medical conditions (severe osteoporosis, @DISEASE$, @PHENOTYPICFEATURE$) made the administration of succinylcholine during ECT potentially dangerous.	false
+9852d30a159b9f5a9fbdd93b65f37d31f0f6a4e0	The clinical presentation of homozygous @DISEASE$ mutations may, besides short stature, include @PHENOTYPICFEATURE$.	false
+ddaec0d29674588a10f80f2a52ef8a5cec4ab0da	Beside @PHENOTYPICFEATURE$, botulinum neurotoxin is also highly valued for the treatment of sialorrhea affecting patients with Parkinson's disease, cerebral palsy, @DISEASE$, motor neuron disease, and other neurologic conditions.	false
+f860a4c0c5ebf9f8cab533b10f4d6bdba3de695c	Higher nitrate consumption has been associated with methemoglobinemia, spontaneous abortions, atherosclerosis, myocardial ischemia, septic and distressed lung, inflammatory bowel disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+005c696235090bea152493ee47615f6ba42ebcbf	The index cases presented with short stature, @PHENOTYPICFEATURE$, and low circulating IGF-I and IGF-binding protein-3 (IGFBP-3), and undetectable @DISEASE$ levels.	false
+5c5e6a7a6f09b172ac121a25a3180d5378251ea5	These vesicles are all linked to pathological states, including @DISEASE$, multiple sclerosis, neuroinflammation, trauma, @PHENOTYPICFEATURE$, and states in which astrocytes contribute to developmental disorders.	false
+bb8f2365d5c957ac29d0a0dcb4b97f1cd940c584	Analysis of skin in @DISEASE$ may also be of interest, and there was a report of accumulation of fused in @PHENOTYPICFEATURE$ protein in the epidermis of ALS patients.	false
+0b69dd10c09cfa34200e81b28680b919b82ed1e3	Analysis of skin in ALS may also be of interest, and there was a report of accumulation of fused in @PHENOTYPICFEATURE$ protein in the epidermis of @DISEASE$ patients.	false
+bf07e58521ac7e810938911f93106374d43bbf1b	Recently, advances in the development of three-dimensional (3D) brain cell culture models have begun to recapitulate various aspects of the human brain physiology in vitro and replicate basic disease processes of Alzheimer's disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a6d1f21c30aae9fd0ca5a73c9aa31635b53ac933	Very rare polymorphisms in the human VRK1 (vaccinia-related kinase 1) gene have been identified in complex neuromotor phenotypes associated to spinal muscular atrophy (SMA), pontocerebellar hypoplasia (PCH), @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis (@DISEASE$) and distal motor neuron dysfunctions.	false
+08545a60b88a03407a79c2105c08de7c7eb833dd	Very rare polymorphisms in the human VRK1 (vaccinia-related kinase 1) gene have been identified in complex neuromotor phenotypes associated to spinal muscular atrophy (SMA), pontocerebellar hypoplasia (PCH), @PHENOTYPICFEATURE$, @DISEASE$ (ALS) and distal motor neuron dysfunctions.	false
+99b6fbd90dba94dabcc146c0fe126b61234774fc	In ALS patients, atrophy of the epidermis, @PHENOTYPICFEATURE$ changes with separated collagen fibrils and an accumulation of amorphous materials between collagen bundles were regarded as pathognomonic skin changes of @DISEASE$.	false
+46543608647cbb28825497dfe09977aecd47de1e	In @DISEASE$ patients, atrophy of the epidermis, @PHENOTYPICFEATURE$ changes with separated collagen fibrils and an accumulation of amorphous materials between collagen bundles were regarded as pathognomonic skin changes of ALS.	false
+2d5535c118d23c540344046acbc3fb20b5dc671e	The @DISEASE$-aniridia-@PHENOTYPICFEATURE$-mental retardation (WAGR) syndrome is associated with an increased risk for developing Wilms' tumor.	false
+1246387bcce643d79185855698204cbb46118c66	The Wilms' tumor-aniridia-@PHENOTYPICFEATURE$-mental retardation (WAGR) syndrome is associated with an increased risk for developing @DISEASE$.	false
+8e0533499a39de76652d44313f41b7c3fb886e05	Denys-Drash syndrome (DDS) is characterized by nephropathy, @PHENOTYPICFEATURE$, and predisposition to @DISEASE$.	false
+669e9b844b110e19a5d2052425fa4a795574908f	The association of aniridia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+59a4487b63f0e12a95d343ea8de1fcc55db480f7	Four had the full triad, consisting of nephropathy, @DISEASE$, and genital abnormalities; five had nephropathy and @PHENOTYPICFEATURE$, and three had nephropathy and Wilms tumor.	false
+9dd217c49e59a58a18f7a8742c4f96115d334586	Four had the full triad, consisting of nephropathy, Wilms tumor, and genital abnormalities; five had nephropathy and @PHENOTYPICFEATURE$, and three had nephropathy and @DISEASE$.	false
+dd5f521bce69de821b1e82f34226834fd262d6a0	Four had the full triad, consisting of nephropathy, @DISEASE$, and @PHENOTYPICFEATURE$; five had nephropathy and genital abnormalities, and three had nephropathy and Wilms tumor.	false
+26dc0fe009c7334354f7977633f4f520c9205f64	Four had the full triad, consisting of nephropathy, Wilms tumor, and @PHENOTYPICFEATURE$; five had nephropathy and genital abnormalities, and three had nephropathy and @DISEASE$.	false
+3188719602d5f5badf7a99b33acff1ce82cef0cb	This constitutional mutation has been reported to cause a variety of phenotypes in eleven different patients, including the classical Denys-Drash phenotype of diffuse mesangial sclerosis which leads to early @PHENOTYPICFEATURE$, genital anomalies in XY individuals and @DISEASE$.	false
+4d31abf61984a55b9865aff5a6832d88326e2152	This constitutional mutation has been reported to cause a variety of phenotypes in eleven different patients, including the classical Denys-Drash phenotype of diffuse mesangial sclerosis which leads to early renal failure, @PHENOTYPICFEATURE$ in XY individuals and @DISEASE$.	false
+cce8c388ad790644566e5fa578791cffcd102654	Clinicopathologic review of twelve children with nephropathy, @DISEASE$, and @PHENOTYPICFEATURE$ (Drash syndrome).	false
+b351c0fa3726f95df1883b6943f4eec721ce5a5f	External @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+99375e452618427e54b1d362e07706545e9e9651	@PHENOTYPICFEATURE$ in a uremic infant with @DISEASE$ in a solitary kidney.	false
+549e6a28f8fbe19dad096446e314a50d404b44ac	None had @PHENOTYPICFEATURE$ or @DISEASE$.	false
+53690f3c6ebbf8115d3259a5ad0b7732a7dee5d9	The authors report one case of Drash syndrome: association of @DISEASE$, nephropathy and @PHENOTYPICFEATURE$.	false
+d8bc78338b1f93ecb9fc0fff7ea6eeb9c37176a5	We report on two Brazilian sibs whose parents are first cousins with clinical findings of the @DISEASE$, namely, camptodactyly, muscle hypoplasia, @PHENOTYPICFEATURE$, and abnormal palmar creases.	false
+830f21c589b517e31d757acbe6033140261bf552	We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral @PHENOTYPICFEATURE$, cataract, and @DISEASE$.	false
+e1beed03896c4d9417d1b82c9d40a3d42bf20561	We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+aeab48d6bf5f3349a6c2990f8f125066cf52cdef	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (@DISEASE$), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	false
+5d4f9a2bfaf93fec10e760a1210845064672c278	Bilateral simultaneous disc @PHENOTYPICFEATURE$ and cataract associated with @DISEASE$.	false
+1b9344adfe327b6ff73525f231f648274dc1ccc8	@DISEASE$ and adult-onset @PHENOTYPICFEATURE$.	false
+c0a9dee573676d19d02d7dcbac0d9cda7721df48	These rats show @PHENOTYPICFEATURE$ and alterations in eyeblink conditioning that are associated with @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+bfe54c76bc6bc2afebf39a3c3da8a29c1c1a79dc	Several recent reports suggest @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+0b9eb8c8fe77c573b2a84443b7b1e5a224457eab	Given consistent reports of @PHENOTYPICFEATURE$ in autism, combined with animal research showing a relationship between exploration and the cerebellum, this study aimed to test the possible link between cerebellar abnormality and exploration in @DISEASE$.	false
+642ccafd5724ff1d34be59180c58d10a854cac76	Given consistent reports of @PHENOTYPICFEATURE$ in @DISEASE$, combined with animal research showing a relationship between exploration and the cerebellum, this study aimed to test the possible link between cerebellar abnormality and exploration in autism.	false
+18248c5adaf58685848b6a815ecd5cc2cfd0c93a	Given consistent reports of cerebellar abnormality in autism, combined with animal research showing a relationship between exploration and the cerebellum, this study aimed to test the possible link between @PHENOTYPICFEATURE$ and exploration in @DISEASE$.	false
+c0183191a7b74f73f8ebc2c23729fa9b72404bf3	Given consistent reports of cerebellar abnormality in @DISEASE$, combined with animal research showing a relationship between exploration and the cerebellum, this study aimed to test the possible link between @PHENOTYPICFEATURE$ and exploration in autism.	false
+d766d6b29b567e4d94caf7a9bc080f3abe20fa3d	As a result, patients may have variable combinations of psychomotor retardation and/or regression, seizures, @DISEASE$ features and @PHENOTYPICFEATURE$.	false
+59007af2c29463793bb74720420459b0217c1e75	Their performance was very similar to previous reports of persons with @PHENOTYPICFEATURE$ and persons with @DISEASE$.	false
+3b154e21ad8de4dcf2738fdca439097668e1415d	Prenatal exposure of rats to valproic acid reproduces the @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+334cce5eb55de9e042f680381753f6d9da8c8817	@PHENOTYPICFEATURE$ and hyperplasia in @DISEASE$.	false
+7f74e3320410ce94ef5ef359ed1e62daa4a3a757	@PHENOTYPICFEATURE$ vermal lobules VI and VII in @DISEASE$.	false
+8ec0e4adf4b224325afc99539c2616bb4d94b8d9	@PHENOTYPICFEATURE$ in @DISEASE$ has been shown consistently from autopsy and magnetic resonance image (MRI) studies.	false
+c263b0e2cfadc896ab939ebd86d30e186ed20317	Keloids and hypertrophic scars (@DISEASE$) are the result of @PHENOTYPICFEATURE$ of fibrous tissue, following healing of a cutaneous injury, and cause morbidity.	false
+51af25d08b872fe3f5c79ee8984223af0086e1b4	Along with @DISEASE$ based screening, detailed structure-activity relationship studies on semi-synthetic and synthetic derivatives might also provide a direction for the development of potential lead(s) or pharmacophore for pancreatic lipase inhibition in order to treat and/or prevent @PHENOTYPICFEATURE$ and related disorders.	false
+082fae26770320b4fc3b0bd805c440af5867a0a5	This review is intended to help researchers generate hypotheses about chemicals that may contribute to diabetes and to @PHENOTYPICFEATURE$-related health outcomes by summarizing relevant findings from the U.S. Environmental Protection Agency (EPA) ToxCast? high-throughput screening (@DISEASE$) program.	false
+3af652df6da5d1ffac14da549ff098bded17c935	@PHENOTYPICFEATURE$ (BMI> or =30, P=0.014), and first degree relative with @DISEASE$ and DM (P=0.015 and 0.05, respectively).	false
+d4ba06a23d04d11185d3d322be22bb9e1c7da0d3	As part of our MCH-R1 antagonist program for the treatment of @PHENOTYPICFEATURE$, a series of biphenylacetamide @DISEASE$ hits was evaluated.	false
+a297cadf0a582c8ffbb69d3f5adba268ba4744c5	Recently, a dominant @PHENOTYPICFEATURE$ in this gene was identified in human @DISEASE$ (DD-I).	false
+177a925e849ec647df103e47cf984c3af6289ae7	The neurologic manifestations of the patients with the @DISEASE$ were very heterogeneous: two patients had psychomotor retardation with @PHENOTYPICFEATURE$ movement, one was mentally retarded with generalized dystonia and one patient only had gout with no neurologic manifestations.	false
+834e42fe2960785173d5e92430ff6d4bac6ffe47	Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor @PHENOTYPICFEATURE$, and self-injurious behavior, or HPRT-related gout (@DISEASE$).	false
+774f3ddd9cdbca22ce064c11244fb40cf1d343a2	@DISEASE$, bilateral cryptorchidism, @PHENOTYPICFEATURE$ and mental retardation in two siblings.	false
+db629522ff9d704ec1b27fc38e0d079b62c5824c	Ophthalmic examinations after surgery revealed that he had @PHENOTYPICFEATURE$, severe retinal degeneration, and high @DISEASE$.	false
+5d7e931534cda81013ae88c3716201eda2491992	Ophthalmic examinations after surgery revealed that he had cataract, severe @PHENOTYPICFEATURE$, and high @DISEASE$.	false
+2711442ad77629332de1bec5353abf0be7b99594	No significant association was determined between the 16 MFRP gene SNPs and the moderate to high hyperopia, microphthalmia/@PHENOTYPICFEATURE$ affection status, and high @DISEASE$.	false
+f46c9921efc1ae4e2b3c4060e0891f1ac07ee9d4	No significant association was determined between the 16 MFRP gene SNPs and the moderate to high hyperopia, @PHENOTYPICFEATURE$/anophthalmia affection status, and high @DISEASE$.	false
+8d38359b0daa94e8364b2d7d366f8ac565d2e6c0	We report an adolescent boy with severe refractory vitamin E deficiency due to @DISEASE$ (PFIC) type 2. His consequent neurologic dysfunction included severe @PHENOTYPICFEATURE$, dysmetria, dysarthria, and cranial nerve VI palsy.	false
+1ee640dc1a64fb6661ad3c5f3375bc6894e0ede9	@DISEASE$ is a rare genetic disorder characterised by @PHENOTYPICFEATURE$ and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs.	false
+ec5fd7c5275ace3d6d73ae25297e6503bae99907	Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (@DISEASE$) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with CAH) had marked @PHENOTYPICFEATURE$ and hirsutism and excreted pregnanetriolone in their urine.	false
+54f6e85fee1953727dc890c5a40ff30f2d8a19f8	Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with @DISEASE$) had marked @PHENOTYPICFEATURE$ and hirsutism and excreted pregnanetriolone in their urine.	false
+513e9ffa6e3a8206e74dd0780156c08b28ba228a	Recently, in three unrelated boys, @DISEASE$ was associated with intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$ and genital abnormalities, defining a new association called IMAGe.	false
+007058e1243dffbbf500245da5a4774f04984bd1	Using a simplified radioimmunoassay method for the determination of 17-hydroxyprogesterone (17-OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia (@DISEASE$) having ambiguous genitalia and/or @PHENOTYPICFEATURE$ with electrolyte disturbances.	false
+1f42ffbea55bff4eae612f7c599381352386ce8e	In this article, we report a case of @DISEASE$ and Schmid @PHENOTYPICFEATURE$.	false
+bc3dc179ecfbf5a8745807f92185ddce0934b776	Water-soluble contrast media, which have been employed in the examination of the lumbar spinal canal for 30 years, can sometimes result in severe complications, such as @DISEASE$, @PHENOTYPICFEATURE$, and myoclonic spasm.	false
+a81d74db2d22a9175d30e0cc819c9d8155581dbc	The incidence of @PHENOTYPICFEATURE$ and the severity of @DISEASE$ were significantly greater in the dehydrated animals.	false
+e6f8c72e8646faecc7187ec28b749a823cb988e6	A pair of monozygotic and a pair of dizygotic twins with @PHENOTYPICFEATURE$ and @DISEASE$ skin-abnormalities are described.	false
+4f23ddc75964cfa15738ce98d140aa6ef5061084	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$.	false
+1af0f8e1adf525eaab9be3bf3746bf8cc24d9f96	@DISEASE$ (HI) is a rare neurocutaneous syndrome frequently associated with @PHENOTYPICFEATURE$.	false
+3890a818e89568702ff195ddcff3353bb4223965	In conclusion, albeit extremely rare, recognition of oligodendroglial @PHENOTYPICFEATURE$ and its distinction from other epileptogenic lesions as dysembryoplastic neuroepithelial tumor or above all @DISEASE$ have important therapeutic and prognostic implications.	false
+235ee2844e849def4afbd46d57f0a80060f63203	Oligodendroglial @PHENOTYPICFEATURE$: a potential source of misdiagnosis for @DISEASE$.	false
+aaab8468f13248ba9e53258edf827e8cbda7d3fc	A patient with a right thalamic @DISEASE$ developed seizures characterized by circling behavior, speech arrest, and secondarily @PHENOTYPICFEATURE$.	false
+93460949ddef01ece85b51552cec572bf949f856	Pathological examination revealed @DISEASE$ in three, recurrent meningioma in one, vascular malformations in two, glial @PHENOTYPICFEATURE$ in one and gliosis in six.	false
+fb33c03b18a27227baa1f08ae35620e5e47fa5d1	Germ-line mutations in the prolyl hydroxylase domain 2 gene (PHD2) have been reported in patients with @DISEASE$ but not in association with @PHENOTYPICFEATURE$.	false
+d2088971ff138e6d5cc0230cd314ba5d783ce89e	Autosomal recessive deafness with @PHENOTYPICFEATURE$ and facial appearance of @DISEASE$.	false
+efef325ec3143b430acfc883f68fc1ed8d378b83	Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, @PHENOTYPICFEATURE$ congenita, @DISEASE$, to the mild forms--Stickler syndrome and early osteoarthritis.	false
+90cf8f1b46a758ee245d8142f8b14b847cb60b5e	@DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$.	false
+7c7cfdb15a3a2685a5c459283648b7f3fd25257d	@DISEASE$ is a rare, autosomal dominant @PHENOTYPICFEATURE$ that is phenotypically similar to the more common disorder Stickler syndrome.	false
+74fc8517e86547952ff7b2e3aaa60be94b1247a4	This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of @DISEASE$, deafness, and @PHENOTYPICFEATURE$.	false
+358d9e868afcf1eb2a3ed4c8295fb7eee5d7650f	Herein we describe an unusual case of a 45-year-old man with spinal adhesive arachnoiditis (SAA) who developed delayed-onset hypertensive @PHENOTYPICFEATURE$ and cauda equina syndrome (@DISEASE$) after multiple low-back surgeries.	false
+16bf13f85de0a01f8b71e7af801e17c8ca8d8fdb	Participating in @DISEASE$ was experienced as meeting in an ethical 'free-zone' and seemed to be a means of facilitating integration of palliative and @PHENOTYPICFEATURE$ care.	false
+31ec94514996f57c375f58a27a66c33418e58da7	The latter may be the mechanism linking @PHENOTYPICFEATURE$ with @DISEASE$.	false
+e5813d772fac800c71b6fdf92a8b1bfb4435a7e7	@DISEASE$-born Maya children had higher BMI than vaginally born children, even in the absence of many known confounding factors that contribute to childhood @PHENOTYPICFEATURE$.	false
+cd64373d775b4e56fc2d987c77d11367fcf4a0e8	In this study, 92 adults with @PHENOTYPICFEATURE$ were weighed and completed the Short Form Health Survey (SF-36) and the Center for Epidemiologic Studies Depression Scale (@DISEASE$-D) at the baseline and at the end of a 3-month intervention.	false
+e432a15d12e84add74763d89208235e65f581b63	A total of 44 elders with @PHENOTYPICFEATURE$ and 40 non-heart failure elders completed several questionnaires including: The Daily Spiritual Experiences Scale (DSES), Spirituality Index of Well-Being (SIWB), Center for Epidemiologic Studies Depression Scale (@DISEASE$-D), and SF-12 Health Survey.	false
+5437b43abd67418f84e041ad5ff6921b028d7295	The distribution of @DISEASE$-D scores by respondents' @PHENOTYPICFEATURE$ status (i.e., underweight, normal weight, overweight, obese and severely obese) showed a U-shaped association.	false
+4d2be1345cc2d21a043a5e8f6ed96e2883155b89	Randomized controlled trial of N?=?150 12-17-year-old girls with overweight/@PHENOTYPICFEATURE$ (body mass index [BMI; kg/m2] ?85th percentile), elevated depressive symptoms (Center for Epidemiologic Studies-Depression Scale [@DISEASE$-D] total score?>?20), and diabetes family history.	false
+be04b641a8e9281388f4b0635e37d090ad8e43f9	Further studies are warranted to investigate the therapeutic potential of @DISEASE$ for @PHENOTYPICFEATURE$.	false
+a10300c8d7381c35d90691bae79198d74906adcf	This U-shaped association between @DISEASE$-D and @PHENOTYPICFEATURE$ status was confirmed by a model in which CES-D scores were regressed on BMI scores and other covariates.	false
+3cb3528f2c46e583ef0e98d4fc20fc4aa924502e	This U-shaped association between CES-D and @PHENOTYPICFEATURE$ status was confirmed by a model in which @DISEASE$-D scores were regressed on BMI scores and other covariates.	false
+182e28c6452b8d296572968cd1c890cf3d420fec	We describe a 2-year old girl with @DISEASE$, who presented with postnatal growth failure and hypoglycaemic @PHENOTYPICFEATURE$.	false
+a085a6c720e0739935a0843bf700a3e8a6a448b8	Similarly, we analysed 4131 participants of the community-based KORA S4 Study (Co-operative Health Research in the Region of Augsburg) and associated @PHENOTYPICFEATURE$ with chronic @DISEASE$ consumption.	false
+3d54944c8971a445e600891a441e49c2d8833623	Not only must shock be added to this list of causes of pancreatitis, but pancreatic ischemia due to hypoperfusion may also be the critical factor which causes the progression from @PHENOTYPICFEATURE$ to necrosis in other forms of pancreatitis, including those associated with @DISEASE$ and biliary disease.	false
+1ce0181e32091933505975db00d4dff4719398e1	Microscopic surface epithelial injury and submucosal @PHENOTYPICFEATURE$ were seen in all five groups, while deep mucosal necrosis was largely prevented by pretreatment in groups B to E. These findings indicate that aluminum in a wide variety of molecular forms can protect the gastric mucosa against @DISEASE$ injury.	false
+744175ae31abe5b8c152c27e554cab083c0200ad	The presentations were (1) Alcoholic myopathy: Past, present and future, by Timothy J. Peters and Victor R. Preedy; (2) Protein adducts in the type I and II fiber-predominant muscles of the ethanol-fed rat, by Simon Worrall, Seppo Parkkila, and Onni Niemela; (3) Hydroperoxides and changes in @DISEASE$ myopathy, by Junko Adachi, Migiwa Asamo, and Yasuhino Ueno; and (4) A close association between testicular atrophy, @PHENOTYPICFEATURE$, and the increase in protein catabolism after chronic ethanol administration, by Kunihiko Takeda, Masayoshi Yamauchi, Kazuhiko Sakamoto, Masaru Takagi, Hisato Nakajima, and Gotaro Toda.	false
+035e00fc0727c8c0bf1546e30aaa3f2db11dec4f	The presentations were (1) @DISEASE$ myopathy: Past, present and future, by Timothy J. Peters and Victor R. Preedy; (2) Protein adducts in the type I and II fiber-predominant muscles of the ethanol-fed rat, by Simon Worrall, Seppo Parkkila, and Onni Niemela; (3) Hydroperoxides and changes in alcoholic myopathy, by Junko Adachi, Migiwa Asamo, and Yasuhino Ueno; and (4) A close association between testicular atrophy, @PHENOTYPICFEATURE$, and the increase in protein catabolism after chronic ethanol administration, by Kunihiko Takeda, Masayoshi Yamauchi, Kazuhiko Sakamoto, Masaru Takagi, Hisato Nakajima, and Gotaro Toda.	false
+29f44a8c0207ed78113343719312fa520e8d0790	At the early stages of alcohol misuse in humans, changes in the regulation of anabolic and catabolic signaling pathways precede the development of @PHENOTYPICFEATURE$ and manifestation of clinical symptoms of @DISEASE$ myopathy.	false
+cb68d2e6a50e99a043337e1d8829d420dbbd5b15	Acute @DISEASE$ myopathy, a syndrome of sudden muscle necrosis, occurs as a result of binge drinking, whereas chronic alcoholic myopathy is a more indolently evolving syndrome of proximal weakness and @PHENOTYPICFEATURE$ that accompanies prolonged alcohol abuse.	false
+15ebadaa473d76f26440dbb2c26606e0f0476ca6	The hallmark of chronic @DISEASE$ myopathy, fiber @PHENOTYPICFEATURE$, was present in 33% of the patients, necrosis scarcely being observed (1.5%).	false
+3e8fa2cde2f3f84010804195f8bad8832c7fc8b9	Acute excessive @DISEASE$ consumption is associated with @PHENOTYPICFEATURE$ like atrial fibrillation but also premature ventricular contractions, collectively known as the "holiday heart syndrome".	false
+0c3eeb76051743ed25fcc28c8881a716c480fb76	Familial diffuse @DISEASE$, @PHENOTYPICFEATURE$, and distribution of pathology.	false
+e656dd448fd5296da89bf293e14bebe97f58108d	The topographic distribution of @PHENOTYPICFEATURE$ was quantified by image analysis of fixed coronal brain slices from four patients dying with cortical @DISEASE$ (CLBD) all with Alzheimer-type pathology and compared to that in four other patients of similar age and gender dying with Alzheimer's disease (AD) alone.	false
+f46ef39fafacfa80b8a79793e386e118f0d60c71	It also describes typical findings in Alzheimer's disease, Frontotemporal Dementia and @DISEASE$ and possible confounding factors, such as vascular changes and @PHENOTYPICFEATURE$.	false
+8928dc1152bf0400079d3b95d370a1ad5c8b690d	Reduced orexin immunoreactivity has been reported in various neurologic conditions such as narcolepsy, Alzheimer's disease, @DISEASE$ and multiple system atrophy (MSA); however, there has been no report investigating orexin in Perry syndrome, a rare hereditary neurodegenerative disease characterized by four clinical cardinal signs (parkinsonism, depression/apathy, @PHENOTYPICFEATURE$, and central hypoventilation).	false
+802f89c34d79373b5960aee68875efb1b1c0e8af	To investigate the independent and interaction effects of Alzheimer disease (AD) and @DISEASE$ (LBD) on cognition and @PHENOTYPICFEATURE$.	false
+536f2190306d27225a02b03a3a87cc9ef5a7685c	Effects of @DISEASE$ and Alzheimer disease on @PHENOTYPICFEATURE$ and cognitive dysfunction.	false
+94c8f059d774d21d3ac521e837e273dac9d3fbd3	Most patients with @DISEASE$ presented with @PHENOTYPICFEATURE$ and cough within the first 90 days of transplantation and with single or multiple pulmonary nodules.	false
+ca70f2e8acc588615c5a6fc8a383afbea9a6158b	The X-linked form of @DISEASE$ (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include @PHENOTYPICFEATURE$, hypertelorism, broad nasal bridge, widow's peak, cleft lip/cleft palate, congenital heart disease, laryngotracheal defects, and hypospadias.	false
+d1cbcf749a1089e253c0238c5d66ccd583df5bf6	[@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0e708b5e13959a802d82059a3fc2a687bc31040a	Both boys are @PHENOTYPICFEATURE$ with short stature, muscular hypotonia, and @DISEASE$.	false
+725c9b619e87f103b45d5bf544bb14b52dfe6a3b	Both boys are mentally retarded with short stature, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2870fafa4bfc7748a7a180fe19701435087d456a	The Richards-Rundle syndrome (RRS) is characterized by hearing loss, @PHENOTYPICFEATURE$, ataxia, primary @DISEASE$ and autosomal recessive transmission.	false
+7e9e936d6a559bde29ab64c6f69e859f0964ed3e	The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, @PHENOTYPICFEATURE$, primary @DISEASE$ and autosomal recessive transmission.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+7da8536658e9598f5a1d3cc2a0e3cf5e5ff7de86	In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with @PHENOTYPICFEATURE$ and in the third group, neuroichthyosis without @DISEASE$ or spasticity.	false
+d289d55b7be74196ecc7eb6bd49db8dbd29defe5	In a first group is neuroichthyosis with @DISEASE$, in the second group is neuroichthyosis with @PHENOTYPICFEATURE$ and in the third group, neuroichthyosis without hypogonadism or spasticity.	false
+6447c809e345f875eb15f1a64d25a8a3a2086bfe	In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without @DISEASE$ or @PHENOTYPICFEATURE$.	false
+99f1fc281a72acb8fba053e3a4c04041aa45fe4e	In a first group is neuroichthyosis with @DISEASE$, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or @PHENOTYPICFEATURE$.	false
+d453b2d14182c9d3fb8cb7ed5fc85ced38efbc31	Familial @PHENOTYPICFEATURE$ with @DISEASE$.	false
+7f796cb0354c3285c0fe2840156bdcee5e55b395	In addition to diabetes and deafness, he manifested with seizures, @PHENOTYPICFEATURE$, myopathy, and @DISEASE$.	false
+1b82056721d8d346d39662805cd8f4a52a4a8fc5	In addition to diabetes and deafness, he manifested with @PHENOTYPICFEATURE$, ataxia, myopathy, and @DISEASE$.	false
+08d692d101dc6127f2b97c3c90fdf6d706d08fe2	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/@PHENOTYPICFEATURE$, retinal degeneration, @DISEASE$, mental retardation, obesity, diabetes, and kidney abnormalities.	false
+7cf9e36b2f88d8157069a9544211279c452ec2eb	Bardet-Biedl syndrome (OMIM 600374) is characterized by poly/syn/brachydactyly, retinal degeneration, @DISEASE$, @PHENOTYPICFEATURE$, obesity, diabetes, and kidney abnormalities.	false
+7cf11d6836ced0826cbfb5578542149a0a74154f	Craniosynostosis, agenesis of the corpus callosum, serve @PHENOTYPICFEATURE$, distinctive facies, camptodactyly, and @DISEASE$.	false
+e48afb4b900072b870ae6e335a5de3d4ddcd5f69	Craniosynostosis, @PHENOTYPICFEATURE$, serve mental retardation, distinctive facies, camptodactyly, and @DISEASE$.	false
+6556c34f0c6a01e0be78c9eb037b48e6438c1bc5	Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0192e9640f19659a9c707e1caaef3de719d7a9d8	Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by @PHENOTYPICFEATURE$, short stature, @DISEASE$, and gait abnormalities.	false
+93c7d6b0b91c75fdc576d689ed7fca856987592a	[Profile of @DISEASE$ susceptibility reports confirmed with muscular @PHENOTYPICFEATURE$ test in Brazil].	false
+3dc0602f1f1579cf61ea00ff51b5ea2f82202b2a	Absence of @DISEASE$ @PHENOTYPICFEATURE$ in Becker-Duchenne dystrophy at age 2.	false
+c47fb83ef057de7288a143d2fd7793916c0712ca	@PHENOTYPICFEATURE$ versus contracture and centronuclear myopathy versus central part myopathy in @DISEASE$.	false
+36f7e61ddb4590becdabf377413ed249c2e03265	Contraction versus @PHENOTYPICFEATURE$ and centronuclear myopathy versus central part myopathy in @DISEASE$.	false
+c4088def1348ae32b4261e23dfd2a999b7abac54	Central core disease is characterised by @PHENOTYPICFEATURE$, skeletal deformities and susceptibility to @DISEASE$.	false
+95128d085b354958820569245e4a8e6e181d5014	[Detection of peranesthetic @DISEASE$ by muscle @PHENOTYPICFEATURE$ tests and NMR spectroscopy].	false
+be34ffd82323691bdbbf153fb4765251057d97c5	Smooth muscle @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d0cf361030bb081ffeff814452d6500492e67369	Muscle @PHENOTYPICFEATURE$ and adenosine triphosphate depletion in porcine @DISEASE$.	false
+75a90f0f5f9f973671d5a04a2ffe063596a2cc41	Postexercise muscle cramping associated with positive @DISEASE$ @PHENOTYPICFEATURE$ testing.	false
+87b06b66646cbaf6259d21969290ae9d149446e9	[Effect of chlorocresol vs caffeine on muscle @PHENOTYPICFEATURE$ in @DISEASE$ susceptible patients].	false
+ff2055ae08484f7769f95b92499ecabd53d61c4e	Congenital myopathy with @PHENOTYPICFEATURE$ and increased susceptibility to @DISEASE$: King syndrome?	false
+ff95b62656422abd6b51617980c4a292e4559c02	6 cases (55%) were combined with systemic diseases, 1 with thyroiditis, 2 with systemic lupus @PHENOTYPICFEATURE$, 2 with @DISEASE$ and 1 with rheumatoid arthritis.	false
+99d08b4a5f7603096c053d39bd63ab3db74b9333	Clinical onset was at the age of 19?years with tonic-clonic seizures, followed by @PHENOTYPICFEATURE$; EEG was in favor of @DISEASE$, and the mutation c.436G>A (a missense mutation substituting aspartic acid in asparagine) in the NHLRC1 gene confirmed this diagnosis.	false
+bea561137510f86a299ac001a2340e5d3a9f77bc	@DISEASE$ is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive @PHENOTYPICFEATURE$ are present.	false
+19869585cd2c944576409b4bdb668cd3ebf2d07c	We report a case with an atypical @DISEASE$, marked by delayed onset at 25 years of age, prolonged course, associated with secondary @PHENOTYPICFEATURE$ and myoclonic features.	false
+cdf07af81148438043fdc0a31f4dd285abba0f8b	Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and @PHENOTYPICFEATURE$, hallmarks of @DISEASE$.	false
+fbd84a560ee2e9d977bf89f70506a7ae52478ab8	Other associated anomalies including the presence of an anomalous feeding artery and pulmonary sequestration, abnormal lobar pattern, localized bronchiectasis, horseshoe lung, accessory diaphragm, diaphragmatic hernia, @PHENOTYPICFEATURE$, and @DISEASE$ were reviewed.	false
+cc7c0e60a8eae36b17097e29fb1b6825f21e2c5f	min and suggests that the @PHENOTYPICFEATURE$ of the @DISEASE$ syndrome is secondary to reduced peripheral glucose utilization secondary to relative insulin deficiency.	false
+e9a759563ce53e9b7baf8029c9ec8e0a42476b90	Case report: somatostatin producing teratoma, causing rapidly alternating extreme hyperglycemia and @PHENOTYPICFEATURE$, and ovarian @DISEASE$.	false
+ea5dc5bd480f58c37335b432f82c01d979019c26	Case report: somatostatin producing teratoma, causing rapidly alternating extreme @PHENOTYPICFEATURE$ and hypoglycemia, and ovarian @DISEASE$.	false
+23543e2746409ea73282dfa995126bb905d5e7ee	Sixty-two percent were cholestatic diseases (32 @PHENOTYPICFEATURE$, 3 sclerosing cholangitis and 2 biliary paucity), 25% metabolic hepatic-based diseases (6 glycogen storage disease, 4 Byler disease, 3 tyrosinaemia and 2 alpha-1-antitrypsin deficiency) and 13% miscellaneous diagnosis (2 post-hepatitic cirrhosis, 2 autoimmune hepatitis, 2 fulminant hepatitis and one case of @DISEASE$ and one case of Budd-Chiari disease).	false
+0600f429db6c3cb1016aad792c28406b4e5193df	Affected tissue from individuals with facial infiltrating lipomatosis contains PIK3CA mutations that have previously been reported in cancers and in affected tissue from other nonheritable, overgrowth disorders, including congenital lipomatous overgrowth, vascular, epidermal, and @PHENOTYPICFEATURE$ syndrome, @DISEASE$, hemimegalencephaly, fibroadipose overgrowth, and macrodactyly.	false
+c3834f995e15600f3c77a958166738c421cae8c8	These neonates had overlapping features of @DISEASE$ and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/@PHENOTYPICFEATURE$.	false
+90c0b8491ddc1b19c2626b563466325a0dde87d0	Up to 90% of cases are associated with systemic abnormalities, which include body asymmetry, cutaneous atrophy, @PHENOTYPICFEATURE$, and vascular anomalies (nevus flammeus, Sturge-Weber syndrome, @DISEASE$, and capillary and cavernous hemangiomas).	false
+10bec6bf78e18b0ed6d5cf4afc891db11d9249ce	This is also the general region into which several disease genes have been mapped, including diastrophic dysplasia, Treacher Collins syndrome, hereditary startle disease, the myeloid disorders that are associated with the @DISEASE$, autosomal-dominant forms of hereditary @PHENOTYPICFEATURE$, and limb girdle muscular dystrophy.	false
+9bf91d8e1e2c19c08fcce0a5d7b62538edc74e12	The Wagner degree of ulcer was related to the duration of diabetes, economic income, @PHENOTYPICFEATURE$, nerve reflection, diapason vibration sensation of foot, sensation point of 10 g nylon filament, ankle/brachial index (ABI), foot artery pulse, fasting blood sugar (@DISEASE$) and glycated hemoglobin (HbA1c).	false
+08308580efb9ceb8a14e4c48366896bd702ab0d8	We conclude that @DISEASE$ should be considered in the differential diagnosis of neonatal @PHENOTYPICFEATURE$.	false
+7609d2e8f040739905c5a73a22d81ab7f5ec6ac4	This study has shown that hypercholesterolaemia, hypertriglyceridaemia, high LDL chol and high @DISEASE$ are associated with @PHENOTYPICFEATURE$.	false
+58c1f2de9412090c43f3c834d08db098d85cf31c	First bite syndrome (@DISEASE$) is an early postoperative @PHENOTYPICFEATURE$ syndrome characterized by the sudden onset of pain in the parotid region at the first bite of each meal.	false
+5320452aa750110b1d362f7ed336486ffa95d927	Gastroesophageal reflux disease (@DISEASE$) is strongly associated with @PHENOTYPICFEATURE$.	false
+71d78eb1257a5dd7a3f31f64e36259559b0b1c6b	These results suggest a different pathogenesis of @PHENOTYPICFEATURE$ in Japanese @DISEASE$ patients compared to GERD patients in Western countries.	false
+a86432444d3a4acb9dc0cff6c3c91ddc1ce108d7	These results suggest a different pathogenesis of @PHENOTYPICFEATURE$ in Japanese GERD patients compared to @DISEASE$ patients in Western countries.	false
+c9c84b49f5cf33fd6559fd5db81d98294c3e8fdd	@PHENOTYPICFEATURE$ in patients with @DISEASE$: erosive versus nonerosive reflux disease.	false
+c1a7b9fe24f7e16aa667f48e011b213412d0be5a	Gastroesophageal reflux disease(@DISEASE$) is strongly associated with @PHENOTYPICFEATURE$.	false
+5320452aa750110b1d362f7ed336486ffa95d927	Gastroesophageal reflux disease (@DISEASE$) is strongly associated with @PHENOTYPICFEATURE$.	false
+de61d0cce09a7dcbd1d295a8d96ba1906459a406	The prevalence of @PHENOTYPICFEATURE$ was high among @DISEASE$ patients.	false
+5320452aa750110b1d362f7ed336486ffa95d927	Gastroesophageal reflux disease (@DISEASE$) is strongly associated with @PHENOTYPICFEATURE$.	false
+5320452aa750110b1d362f7ed336486ffa95d927	Gastroesophageal reflux disease (@DISEASE$) is strongly associated with @PHENOTYPICFEATURE$.	false
+cf4ea0abc20dafa0b42cedcf80b042c50c3a74a3	Gastroesophageal reflux disease (@DISEASE$) and psychological stress are associated with @PHENOTYPICFEATURE$.	false
+6fc890d4a0b91f03ad115ee128dff88321413767	@PHENOTYPICFEATURE$ are common in patients with gastroesophageal reflux disease (@DISEASE$).	false
+e1ace71ca727c7c0eff302aeee00afed1c980c81	This phenotype consists of intra-uterine growth retardation, left-sided CDH, @PHENOTYPICFEATURE$ and characteristic facial features, similar to those seen in @DISEASE$.	false
+b2028a62ea928c3a3d598459bc3f2f7115774df4	This phenotype consists of intra-uterine @PHENOTYPICFEATURE$, left-sided CDH, cardiac anomalies and characteristic facial features, similar to those seen in @DISEASE$.	false
+b5cbedc41ec3b6d625340f900efa3b8d100aabe4	This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (Pallister-Killian syndrome), together with some of the syndromes in which CDH is a relatively common feature, including @DISEASE$, Matthew-Wood syndrome, @PHENOTYPICFEATURE$ syndromes and Donnai-Barrow syndrome.	false
+cad17565a26ef34eb5f013ba553d14d08886bb5c	We report on a child with @DISEASE$ including lung hypoplasia, characteristic facial appearance, cleft palate, @PHENOTYPICFEATURE$, distal limb abnormalities, absent nipples, bicornuate uterus and early death.	false
+c5dce8e24aef800af6128e4fa630eebb1767db75	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous @PHENOTYPICFEATURE$, cardiomyopathy, and a @DISEASE$.	false
+6f90cdc3536eac076f1ca7830b0194235e67347e	The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, cataracts, cardiomyopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0a5f1ce440d412e6b68c9c4c8b726d4e0a162368	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+1e3e0de3833e34d90ea69626809b00150844f70b	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, @DISEASE$, psychomotor delay, and @PHENOTYPICFEATURE$.	false
+123772f26fa84c9a287f3c7e3a55eaadb8eea385	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+8481740be5d82cddc99bd048e75d7569392d2b1e	We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous @PHENOTYPICFEATURE$, bilateral cataract, cleft lip and palate, and @DISEASE$.	false
+c45a3c883686c510dabb0bacabe04daaf1aff835	Nine percent of the respondents had @PHENOTYPICFEATURE$, 2% had @DISEASE$% glaucoma, 8% blurred vision, and 13% trouble seeing.	false
+8d9596168eebf9de3b5dd0d6f6d65acabe35ad5d	We measured binocular gaze using the magnetic search coil technique during attempted fixation (monocular or binocular viewing) of 4 individuals with childhood-onset of monocular @PHENOTYPICFEATURE$, 2 individuals with late-onset monocular visual loss due to @DISEASE$ individuals with bilateral visual loss, and 20 healthy control subjects.	false
+0b80093944bb02f7cde6edc48b64ef055eb78cdb	We measured binocular gaze using the magnetic search coil technique during attempted fixation (monocular or binocular viewing) of 4 individuals with childhood-onset of monocular visual loss, 2 individuals with late-onset monocular visual loss due to @DISEASE$ individuals with bilateral @PHENOTYPICFEATURE$, and 20 healthy control subjects.	false
+049cd24b9b07d29a31e64e29fb39a120bc73470f	There were laso 2 benign @PHENOTYPICFEATURE$: ectopic adrenal ovarian tumor, and ovarian tube @DISEASE$.	false
+5846700602b499d82a44d6c61a84602b0e0732de	To explore the significance of cerebrospinal fluid dopamine beta-hydroxylase, we applied a homologous human dopamine beta-hydroxylase radioimmunoassay to cerebrospinal fluid, in order to characterize the properties and stability of cerebrospinal fluid dopamine beta-hydroxylase, as well as its relationship to central noradrenergic neuronal activity and its variation in disease states such as hypertension, @PHENOTYPICFEATURE$, Parkinsonism and @DISEASE$.	false
+23ee9707a4c65b4f8bdd842fd521f6565fd1c067	To explore the significance of cerebrospinal fluid dopamine beta-hydroxylase, we applied a homologous human dopamine beta-hydroxylase radioimmunoassay to cerebrospinal fluid, in order to characterize the properties and stability of cerebrospinal fluid dopamine beta-hydroxylase, as well as its relationship to central noradrenergic neuronal activity and its variation in disease states such as hypertension, renal failure, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1b819dce9015be4d8a2b467fd15901f9a0bb26cf	We report a series of 5 patients from the same family who all presented with dominant @DISEASE$, mild @PHENOTYPICFEATURE$, mild axonal peripheral nerve involvement, and the novel E368Q mutation in the DNM2 gene.	false
+185d9fb649db52bc1258830fdc5c79a5cc038890	Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including @PHENOTYPICFEATURE$ (MH; MIM #145600), central core disease (CCD; MIM #11700), specific forms of multi-minicore disease (MmD; MIM # 255320) and @DISEASE$ (CNM).	false
+aa239e9ecd186747e7a93a5b4f05067472856e46	Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; @DISEASE$ of @PHENOTYPICFEATURE$.	false
+e423a0e72b1ecf7c40f4b29579196830a81bc10c	Two infants with the @DISEASE$ of @PHENOTYPICFEATURE$ underwent flexible fibre optic bronchoscopy.	false
+05070ecc95ffc43b9e1096abe8376777b8abd25b	@DISEASE$ is characterized by short trunk dwarfism associated with rib and @PHENOTYPICFEATURE$.	false
+7e6324b57182622701c801fe4f76d3460e028a49	@DISEASE$ (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+22babe4c8d8b882934047b4f4e32cf9e711a28cc	Nonskeletal malformations in one of three siblings with @DISEASE$ of @PHENOTYPICFEATURE$.	false
+59ab275a6870c22a94bc39822f852f59f0e21a37	@DISEASE$ is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and @PHENOTYPICFEATURE$.	false
+a9e6b5fe1a75360db7f77ce282f1abb3e4429006	@DISEASE$ is characterized by "crab-like" rib cage deformity and multiple @PHENOTYPICFEATURE$ that cause respiratory failure.	false
+a21ea2699891c056e7453990de6156ef9c8cc462	Camptodactyly, cleft palate, and @PHENOTYPICFEATURE$ (the @DISEASE$).	false
+79525f905ff7d420b8f424701176fd49d81918ab	A second family is described in which camptodactyly, @PHENOTYPICFEATURE$, and cleft palate (the @DISEASE$) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity.	false
+928871482b89a99e31b66bf57b1254e630ebee92	The aim of this article is to publish a literature review and report on two new cases of @DISEASE$ (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and @PHENOTYPICFEATURE$.	false
+a7ac7f877c79bc9947e484acfb84a45e66014f96	Novel CNS malformations and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+58a4116ab0a860b4e0c4f02217bc8949a3bde349	Celia @DISEASE$-Vazquez is a recipient of a Personal Investigador en Formaci? grant UAB/PIF2015 (Universitat @PHENOTYPICFEATURE$?noma de Barcelona).	false
+4965b6e3cf121e80be958f12036bc2de54fceb81	@PHENOTYPICFEATURE$ and hypoadiponectinemia correlate with necrotic @DISEASE$ lesions and may contribute to increased risk of coronary plaque vulnerability.	false
+8b2ab58b22d29f2afefb4a765b375355ba69b8a1	@PHENOTYPICFEATURE$ with a linear disposition along dermatoglyphics: a clue for an early diagnosis of @DISEASE$.	false
+a350c06e7ebd619df4d3a4cf3b72fdf8f89c42f0	@DISEASE$ or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+cacbea91f5d9ab31b584ec1eb4f8ea96c9375611	Richner-Hanhart syndrome (@DISEASE$) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful @PHENOTYPICFEATURE$, and mental retardation.	false
+a273d341bd521aebcd9a6f8e1c7fc3826c192c00	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+65bf15e5ac937fdc6b41aab86c98393fb1d8c755	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+c322b6e655dd9b70d6dbce119362e9dcaf9ffc19	@DISEASE$ should be suspected in patients demonstrating dermatologic signs, especially @PHENOTYPICFEATURE$, associated with bilateral pseudodendritic corneal lesions unresponsive to antiviral therapy.	false
+2365445fd35874581cfd9cee18503fd0ffd16ded	@DISEASE$ or Richner-Hanhart syndrome is a rare hereditary disease characterized by the association of pseudoherpetiform corneal ulcerations and @PHENOTYPICFEATURE$.	false
+4673305c5eca7a54f450376a4bc4ddf479f7cc7d	Coagulation and @PHENOTYPICFEATURE$ were studied in 4 patients with @DISEASE$ (CFS or POEMS) to understand the pathophysiology.	false
+b670ba28b8b17865f135aa9ad4fe9a4597bead73	Infection immunity and neurological disorders (Guillain-Barr? syndrome, Fisher syndrome, @DISEASE$, influenza-associated @PHENOTYPICFEATURE$, AIDS encephalopathy)].	false
+61970f9a4ecc581048fb57500f9ea9993e7e078b	In this review some neurological diseases, such as, myotonic dystrophy, @DISEASE$, Wolfram syndrome (DIDMOAD), Friedreich @PHENOTYPICFEATURE$, spinal muscular atrophy of the Kennedy-Alter-Sung type, amyotrophic lateral sclerosis, Parkinson-dementia, and MELAS are discussed in relation to, glucose intolerance.	false
+eb316c9ee67f6948135cbedd61586d0491e28072	Common clinical manifestations include cutaneous lupus lesions, cardiac disease, notably @DISEASE$, @PHENOTYPICFEATURE$, and hepatobiliary disease.	false
+66dc240cd023fbd79a33bbc086a669008e9257d8	@DISEASE$ and immune mediated @PHENOTYPICFEATURE$: possible cross reactivity of immune response.	false
+0d323616a04ac8a9c82dc01284292fc6150973d3	Characteristic manifestations of NLE include transient dermatitis, hepatic and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+780fb4c31149377aed250dd3b9f35a8dc78fcb55	On the contrary a 13-year-old boy with @DISEASE$ and @PHENOTYPICFEATURE$ was positive for the presence of anti-inner ear antigens antibodies.	false
+90009a91ce31c7296fa9dfce1adea34b1bc3a7f4	These included 15 eccrine tumors, 11 apocrine tumors, 18 @PHENOTYPICFEATURE$ with differentiation toward hair, two sebaceous adenomas, one mixed tumor of the scalp, ten dermatofibromas, @DISEASE$ basal cell carcinomas, five squamous cell carcinomas, and one clear cell acanthoma.	false
+9eda459858d59d7dfb8f1bfcfad4891ed07e53de	Early @DISEASE$ syndrome post-intra-cranial @PHENOTYPICFEATURE$ resection.	false
+9a6cf6ec4e81214f13678a0f5b3d79456fad35dc	Life experience of cancer patients in @DISEASE$ @PHENOTYPICFEATURE$ clinics.	false
+17e4beaf406de0241e9972a8418271d8de315e89	In this study we used a whole-genome mate-pair protocol to characterize a landscape of genomic rearrangements in the primary @PHENOTYPICFEATURE$ of @DISEASE$ ovarian cancer patients.	false
+61e0f6f11cd10c7b24a01382029f3b6977fb3606	To identify chromosomal aberrations that are typically present in SCC of the urinary bladder, @DISEASE$ @PHENOTYPICFEATURE$ were analysed by comparative genomic hybridization (CGH).	false
+c246cb67a0e6401c5db394d0fa6129c60af9aeca	To seek a specific miRNA expression signature characterizing the metastatic phenotype of solid @PHENOTYPICFEATURE$, we performed a miRNA microarray analysis on 43 paired primary tumours (ten colon, ten bladder, 13 breast, and @DISEASE$ lung cancers) and one of their related metastatic lymph nodes.	false
+96a95c0c2175639ca6b8cdfc3c20efc8820fd796	To seek a specific miRNA expression signature characterizing the metastatic phenotype of solid tumours, we performed a miRNA microarray analysis on 43 paired primary @PHENOTYPICFEATURE$ (ten colon, ten bladder, 13 breast, and @DISEASE$ lung cancers) and one of their related metastatic lymph nodes.	false
+1254349e5e4aa16fbac3debc49d15d78d1b3d894	We present a case of @DISEASE$ syndrome with incidental detection of @PHENOTYPICFEATURE$ thrombus in right pulmonary vein extending to the left atrium on F-FDG PET/CT and subsequently complicating as an occipital bleed.	false
+5b2b961d601f6ef6d299b0820995a3692c61016e	While our in vitro data support a potential anti-tumor role for CCL2 in @DISEASE$ neutrophil- mediated tumor killing in poorly aggressive tumors, intranasal delivery of CCL2 increased CD4+ T cell recruitment to the pre-metastatic niche of the lung and this correlated with enhanced seeding and growth of @PHENOTYPICFEATURE$ cells.	false
+346a6c485c13fd6adc93a4f7f1229f8db0b7b959	While our in vitro data support a potential anti-tumor role for CCL2 in @DISEASE$ neutrophil- mediated tumor killing in poorly aggressive @PHENOTYPICFEATURE$, intranasal delivery of CCL2 increased CD4+ T cell recruitment to the pre-metastatic niche of the lung and this correlated with enhanced seeding and growth of tumor cells.	false
+e74f7f5bcfce883947edd3865963892fc5d5b20c	While our in vitro data support a potential anti-tumor role for CCL2 in @DISEASE$ neutrophil- mediated @PHENOTYPICFEATURE$ killing in poorly aggressive tumors, intranasal delivery of CCL2 increased CD4+ T cell recruitment to the pre-metastatic niche of the lung and this correlated with enhanced seeding and growth of tumor cells.	false
+d456a5d2d2ed1e353721dee618167278ac988235	Mutations in each of the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of various severity: Cree leukoencephalopathy, childhood @PHENOTYPICFEATURE$ with central hypomyelination/leukodystrophy with vanishing white matter and @DISEASE$.	false
+6b6b951385755c406b4c56afa12d7148289ca0c6	We describe a severe case of @DISEASE$ that presented prenatally with multiple anomalies including cystic hygroma, microphthalmia, intrauterine growth restriction and a complex @PHENOTYPICFEATURE$.	false
+073d192b4d2d3ff8f0d24dd0375ea10e349bc0af	@DISEASE$ and acquired @PHENOTYPICFEATURE$ deformity.	false
+74cb3831bf2a628580f80f89c64b339df7572573	We report on two unrelated patients with severe @PHENOTYPICFEATURE$, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (@DISEASE$)-like phenotype with inherited deletions of 16p13.11.	false
+1a66e6f596e3779fe690bf6f98805dd3f4a9c5aa	The laboratory findings revealed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b288928dbe9b0b2099aa856d0bba9c263f3c3eca	@PHENOTYPICFEATURE$ is rare and autoimmune disease is common in adults with idiopathic @DISEASE$.	false
+518d4c68f6975eac293a42381912a9505b971471	APS1 should be part of the differential diagnosis in children presenting with isolated hypoparathyroidism or @PHENOTYPICFEATURE$ with @DISEASE$ (CDI).	false
+10db067d51345c08a6b790e50d6fa49aa38ddffd	APS1 should be part of the differential diagnosis in children presenting with isolated @PHENOTYPICFEATURE$ or hypoparathyroidism with @DISEASE$ (CDI).	false
+ef0441e4796053bb3df1d9da95d34db1d33b3403	Whole exome sequencing ruled out known genetic causes of @DISEASE$, adrenal insufficiency and @PHENOTYPICFEATURE$.	false
+01f41652beb9c7b9d1588bc00c41596c57396479	@PHENOTYPICFEATURE$ and @DISEASE$: perioperative diagnosis and management.	false
+9189427203659dd5a1e97005834b552d8529c01c	After surgery, he suffered from @DISEASE$, hypopituitarism and @PHENOTYPICFEATURE$, with serum PRL level of 491 ng/ml.	false
+961a64c28136c1ba042eb25d5b6a3f66688386e9	After surgery, he suffered from @DISEASE$, @PHENOTYPICFEATURE$ and hyperprolactinemia, with serum PRL level of 491 ng/ml.	false
+b77715c028290ef8e1c0363f9e108ae2b5199b90	Manifestations were @PHENOTYPICFEATURE$ in 26.2% (22 cases), @DISEASE$ in 17.9% (15 cases), and panhypopituitarism in 52.4% (44 cases).	false
+c5ca588035255d7ca91abcb1f2a978e5d9ca4784	A 53-yr-old patient was admitted owing to @DISEASE$ and partial @PHENOTYPICFEATURE$.	false
+ccb7f09f10a4866cb935cbe9b6ccc9cb49e640a7	We report a case of @PHENOTYPICFEATURE$ showing recurrent pituitary mass associated with @DISEASE$.	false
+ffd991a20bc1c11f03424c6b3c04b5285a328ef3	When pituitary lesions are caused by MTX-LPD, the possibility of @PHENOTYPICFEATURE$ and @DISEASE$ needs to be considered.	false
+a3ddeb729efd3241e138b757c755c8f415d4a568	Hippocampal atrophy, epilepsy @DISEASE$, and @PHENOTYPICFEATURE$ in patients with partial seizures.	false
+3862ca85c5376767c4aceb688fe62563d6215f4f	Younger age at first seizure, short @DISEASE$ of fever before the onset of first febrile seizure, lower temperature at onset, and family history of @PHENOTYPICFEATURE$ are risk factors of recurrence of febrile seizures in children.	false
+aad15138e51c98de7d94d1c524013a62ddf1a529	Younger age at first seizure, short @DISEASE$ of fever before the onset of first febrile seizure, lower temperature at onset, and family history of febrile seizures are risk factors of recurrence of @PHENOTYPICFEATURE$ in children.	false
+9064a2df61afaa2234dce66cf35a3792607b2227	Younger age at first seizure, short @DISEASE$ of fever before the onset of first @PHENOTYPICFEATURE$, lower temperature at onset, and family history of febrile seizures are risk factors of recurrence of febrile seizures in children.	false
+b9dc71cbf53e8535b867c7168372b8fa349ad40c	Because @DISEASE$ and oculocutaneous @PHENOTYPICFEATURE$ are both examples of ocular miswiring, a common mechanism is suggested.	false
+4dd5e9159afc78aac524845f9d95e035c1921043	Though paracetamol may improve well-being and drinking behavior of infants, it does neither shorten the duration of fever @DISEASE$, nor prevent @PHENOTYPICFEATURE$.	false
+63c49b21f24ecfb1bd3eb6b20e84f7ab82266274	Common adverse effects include a rapid onset of @PHENOTYPICFEATURE$, nausea, vomiting, myoclonic seizures and coma of short @DISEASE$.	false
+1c323c95c96cd47d7a9d19ad4d03491ae19d7fc3	No significant association was found with diabetes @DISEASE$, @PHENOTYPICFEATURE$, alcohol intake, or prior gastrointestinal diseases.	false
+a59aeeacafe1cadb7c4e5522b8151313fb12e46c	Retinopathy, HbA(1c), diabetes @DISEASE$ and age were independent risk factors for diabetic @PHENOTYPICFEATURE$.	false
+f9acbcbcf6bfa556312ec6a297540e9fbee8524d	Problems of ocular miswiring in @PHENOTYPICFEATURE$, @DISEASE$, and Marcus Gunn phenomenon.	false
+4239c35c439a4e75c2ad4de88e93d53f092ba222	The test was well tolerated, since 97% of the examined children had no side effects with the exception of occasional @PHENOTYPICFEATURE$, pallor and myosis of short @DISEASE$.	false
+61b6ba75a38cbf27916288916923018aeb4b8064	DR was associated with diabetes @DISEASE$, cigarette smoking and @PHENOTYPICFEATURE$.	false
+9ab4e484d1305f0b826aa7e7c9491115b70cb5a8	The identification of human DACH2 sequences at Xq21 suggests a possible role for this gene in @DISEASE$, Miles-Carpenter syndrome, X-linked @PHENOTYPICFEATURE$ and/or Megalocornea.	false
+83ec9048ea0042ed790e403a657fce1410caf18d	In addition, the disease can be confounded by a broad spectrum of complications, such as various kinds of osseous lesion, vascular lesions, @PHENOTYPICFEATURE$, @DISEASE$ glioma, and learning disabilities.	false
+04ee5aaee96416b58cc282764e5ad7b2df2ba1f0	It occurs in eyes with abnormalities confined to the posterior segment such as retinal folds, vitreal stalk, vitreal membranes, @PHENOTYPICFEATURE$ and @DISEASE$ disc abnormalities.	false
+c2681256950e2d689cf5b3382c9048caf11f7bf7	Common complications include learning @PHENOTYPICFEATURE$, scoliosis, and @DISEASE$ gliomas.	false
+652464a2f4e54ecc63799872e23f389c5c957545	Agenesis of the corpus callosum, @DISEASE$ coloboma, intractable @PHENOTYPICFEATURE$, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+98eb6015ad4669dc794430daa2657001964ff20a	@PHENOTYPICFEATURE$, @DISEASE$ coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.	false
+e5ff0ab830f4c597464bee377016c1a9f90ae4d0	[A case of hypopituitarism associated with empty sella and @PHENOTYPICFEATURE$, a variant form of septo-@DISEASE$-pituitary dysplasia].	false
+2bd3f6981e4193918931476ddc015023208288c3	Homozygous and compound heterozygous mutations in C12orf57 have recently been described to cause an autosomal recessive syndromic form of intellectual disability, including agenesis/hypoplasia of the corpus callosum, @DISEASE$ coloboma, and intractable @PHENOTYPICFEATURE$.	false
+58332db06708a09ef28a22f9beba002ab578a895	Homozygous and compound heterozygous mutations in C12orf57 have recently been described to cause an autosomal recessive syndromic form of @PHENOTYPICFEATURE$, including agenesis/hypoplasia of the corpus callosum, @DISEASE$ coloboma, and intractable seizures.	false
+14dbee410c9c93036a12dfecf3f5b6716a51a1b8	@PHENOTYPICFEATURE$ and @DISEASE$ disk anomaly associated with a new PAX2 missense mutation.	false
+6c44dd7430d70f3eb05d35c59a6d7531a49463d5	Agenesis of corpus callosum, a rare congenital defect, might be associated with macrocephalia and various degrees of mental impairment, @DISEASE$ defects, and @PHENOTYPICFEATURE$.	false
+629dcb4a5f6f0fda21a1cbabf8500860a695bb00	@PHENOTYPICFEATURE$, a rare congenital defect, might be associated with macrocephalia and various degrees of mental impairment, @DISEASE$ defects, and seizures.	false
+a461af85abf85b299fd5c1f56b51c3f9ef440176	Nonetheless, the symptoms had progressed on the 11th hospital day, opisthotonus and @DISEASE$ @PHENOTYPICFEATURE$ were presented.	false
+fac91704b31711a2e1d7ebd1f4c2ecda2bdac813	Associated abnormalities include @DISEASE$ disc dysplasia, microphthalmia, cortical dysgenesis, @PHENOTYPICFEATURE$ and epilepsy.	false
+36dd203c26585c9ec1a0ae4cc9dec80efba0fcb0	Pulmonary hypoplasia: a morphometric study of the lungs of infants with diaphragmatic hernia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a10e4c1834387b67d41526e282478a40f4d8616a	Anomalies present in the family include @PHENOTYPICFEATURE$, @DISEASE$, cleft lip, congenital heart defect, renal agenesis, and hypospadias.	false
+c260c2df952d167ca3e7f03719a91d5c6172cad5	Anomalies present in the family include hydrocephalus, @DISEASE$, cleft lip, @PHENOTYPICFEATURE$, renal agenesis, and hypospadias.	false
+55cb521c2dc6b802d58deaa5ac0144afd892481f	Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, @DISEASE$, @PHENOTYPICFEATURE$, and seizures.	false
+827eda2a787e4cb86f7942ed973aabe26a489f0a	Other associated characteristics include short stature, developmental delay, @PHENOTYPICFEATURE$, diaphragmatic hernia, agenesis of the corpus callosum, @DISEASE$, hydrocephalus, and seizures.	false
+62bcd62cbde493f363fd289482cb65981116df00	Amniotic fluid alkaline ribonuclease activity: an indicator of foetal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+aafd8e46ddce141843e7e7628d37621cda91561b	Neurological malformations were the most frequent (60%), dominated by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+09f69ed6e1aea846cdd91b5e4d2ff398415a2ec0	Among the most frequent NTD was @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d6a259cc087f8b3eb008e3037a0ba3bfc010eeb5	"Isolated" @PHENOTYPICFEATURE$ in families of spina bifida and @DISEASE$: a coincidence?.	false
+c62c39a8c579ab9d483caea8b6df17fa77d00713	@DISEASE$ or @PHENOTYPICFEATURE$ are most frequent, whereas cysts are comparatively rare.	false
+39862496adc3e96562222b9f2f2c700316ad1332	@PHENOTYPICFEATURE$, @DISEASE$, short limb dysplasia.	false
+04aed03a51f8dc457cf999260341c110fb386b67	Statistical analysis of @DISEASE$, spina bifida and congenital @PHENOTYPICFEATURE$.	false
+530b746fa06f6c2093226694eb26fd866c13f9cb	The prevalence of TTN mutations in patient with DCM, @DISEASE$ (FDCM), and @PHENOTYPICFEATURE$ dilated cardiomyopathy (SDCM) was 0.17 (95%?CI: 0.14-0.19),	false
+31a2f6ab27db42e1887cbe6dce1715e659f44d55	Immunohistological analysis of biopsies along the GI tract (stomach, duodenum, colon) immunostained with chromogranin A and serotonin revealed a widespread reduction or complete loss of EE cells in all four patients with @DISEASE$ suffering from severe diarrhea, @PHENOTYPICFEATURE$, malabsorption, or constipation.	false
+1872aa3f20c880abca4a1519337c19984fd12da1	Patients with a mutation of this gene develop a condition known as @DISEASE$ (APECED), characterized by autoimmune destruction of endocrine organs, fungal infection and @PHENOTYPICFEATURE$.	false
+7453cd0a4c7c26c0ad9e8e1f6b1a02d2e69d8a8a	@DISEASE$ (PCO) and hypothalamic amenorrhea (@PHENOTYPICFEATURE$, HH), in particular, are significantly overrepresented and attributable to hypothalamic dysfunction.	false
+7605a899cb054af794f055c9e2b09ebb10236933	Lastly, its usefulness has been proposed in the diagnosis of @DISEASE$ (PCOS) and ovarian granulosa cell tumors and in the evaluation of patients with @PHENOTYPICFEATURE$.	false
+41aef66a6226ab931ac4579fd1285106b1fd2e6a	Lastly, its usefulness has been proposed in the diagnosis of polycystic ovarian syndrome (@DISEASE$) and ovarian granulosa cell tumors and in the evaluation of patients with @PHENOTYPICFEATURE$.	false
+b1db3b72e42ed638119d340126035cee5fb5e789	Disruptions in androgen levels are involved in a number of reproductive defects, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a5513b8be14f276135a171ad860feadcc6188c7a	@DISEASE$ and @PHENOTYPICFEATURE$ occurred significantly more often in women with TLE than in the general female population.	false
+09980d4c77584ad6298ba6ce79e5ecfb8931356c	In an investigation of 30 women who had complex partial seizures with unilateral temporal lobe epileptiform discharges and reproductive endocrine disorders, there was a significant difference between the EEG laterality distributions associated with @DISEASE$ (PCO) and those associated with @PHENOTYPICFEATURE$ (HH).	false
+8fbe4d70126844e977833a78cd30fc663c546f60	In an investigation of 30 women who had complex partial seizures with unilateral temporal lobe epileptiform discharges and reproductive endocrine disorders, there was a significant difference between the EEG laterality distributions associated with polycystic ovarian syndrome (@DISEASE$) and those associated with @PHENOTYPICFEATURE$ (HH).	false
+a527a909c8beb046cfb19a7210d4f950081e35a7	To characterize the ovarian response in patients with isolated @PHENOTYPICFEATURE$ with ultrasound (US) findings of @DISEASE$ (PCO).	false
+c234f990b1d684c7ddc80c429532ba4a5645233b	@DISEASE$ (PCOS) is of frequent occurrence in Saudi females and is often associated with obesity, insulin resistance, @PHENOTYPICFEATURE$, and infertility.	false
+5dcfc53119b8cf4840b0f7b40bf1b4421930c4e7	Mutations of POR are a new, recently described disorder manifesting as the Antley-Bixler @PHENOTYPICFEATURE$ syndrome, and a form of @DISEASE$.	false
+76f4aaca3607af23c23616340cd5ce0176602878	Specifically, @DISEASE$ and @PHENOTYPICFEATURE$ are significantly overrepresented among women with epilepsy.	false
+ccadbc680b90700f2ace010b28ddd5970045c7a6	AMH measurement may be used in cases of premature ovarian failure, including iatrogenic, due to treatment for cancer, @PHENOTYPICFEATURE$, and lastly, in @DISEASE$ (PCOS).	false
+b5fdbe9770312e4f36224665eadf1ddf2ca03591	[@DISEASE$: first manifestation as @PHENOTYPICFEATURE$ in a newborn].	false
+4875fb05a6592485cec0e3b4104dcfe449101f79	Selective activation of mTORC1 signaling recapitulates @PHENOTYPICFEATURE$, @DISEASE$, and neurodegenerative diseases.	false
+0f87f9051fd83a2e38cbbc16474b745670ac0420	@DISEASE$ and @PHENOTYPICFEATURE$ in three Zulu patients.	false
+31dcd1c5b264b5f33122d9ae1631707c82d7f7f1	On evaluation, she had @PHENOTYPICFEATURE$, neuro-cutaneous stigmata of @DISEASE$, profound mental retardation, and spastic hemiparesis.	false
+4453bd778ca5a49cac65f2a96fa3f3183d7e409f	Neonatal @DISEASE$ and multiple @PHENOTYPICFEATURE$.	false
+17e19dfb02f5ed99d7e466faa93f2abd14d845eb	@DISEASE$ presenting with a @PHENOTYPICFEATURE$.	false
+b91a32c96a5b2eac4f526eb7433501ac5799e0e0	@DISEASE$ (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, @PHENOTYPICFEATURE$, and neurologic problems including seizures, intellectual disability, and autism.	false
+98e105808fc73543a0df8fae8ae67a00f01ccaaf	In the first case, @PHENOTYPICFEATURE$ was present in a child with @DISEASE$ and cardiac rhabdomyomata.	false
+196b54cc397caa2ddd273a6c659a8511c559cbb3	This is a case of neonatal @DISEASE$ associated with cardiac rhabdomyoma and manifested by fetal @PHENOTYPICFEATURE$-bradycardia.	false
+46482c7cee4234d39bae3fc53a15c1417fa174b3	[Bourneville's @DISEASE$ with unusual ocular manifestations: papillary @PHENOTYPICFEATURE$ and band-shaped keratitis].	false
+2362a0c2b0bb073c2942b600913edd2294179b06	Conjunctival @PHENOTYPICFEATURE$ and distichiasis are important ophthalmic features of the congenital @DISEASE$.	false
+1ce4b1d502a28db2298afb041f2cfa395e1d1868	In a mature B-cell-deficient mouse (@DISEASE$), DTA-1 fails to induce @PHENOTYPICFEATURE$ regression with a reduced early activation of CD4(+) and CD8(+) T cells.	false
+4422e49073894976bb36879e914874f586bdd570	Among these medicines, Jianpi Huayu Decoction (@DISEASE$) is a typical clinical prescription against multiple @PHENOTYPICFEATURE$.	false
+eee52c9e8a7015d0931a87ab08494cb33faac399	Jianpi Huayu Decoction (@DISEASE$), a Chinese medicine formula, is a typical prescription against multiple @PHENOTYPICFEATURE$ in the clinical treatment, which can raise quality of life and decrease complications.	false
+392a1a40db1273ae92423e22c22cf85a783594b1	We report a 16-year-old female with @DISEASE$ complicated with severe @PHENOTYPICFEATURE$-hypoxia syndrome.	false
+083f44474332d9bf2c12f751d945e133ea47ee9e	[Acquired @DISEASE$ associated with middle lobe syndrome and @PHENOTYPICFEATURE$].	false
+c9d20d9d90286a08cfe73749a7c91522a363227f	Second, patients presenting with cold-induced urticaria, granulomatous rash, autoantibodies, and @DISEASE$, or with blistering skin lesions, bronchiolitis, enterocolitis, @PHENOTYPICFEATURE$, and mild immunodeficiency harbor distinct mutations in phospholipase C??, encoding a signaling molecule expressed in natural killer cells, mast cells, and B lymphocytes.	false
+22321409d19f18d67dd225d50516f8011d974aa9	A 47-yr-old woman with @DISEASE$-associated diarrhea, steatorrhea, @PHENOTYPICFEATURE$, and bloating for several years had an exhaustive evaluation for secondary causes of her symptoms, which was unrevealing.	false
+2bbebb8fba70dc627c9461406c651c5aeeac5a29	@DISEASE$ disorder (CVID) is an immunological disease that can present with gastrointestinal (GI) symptoms including chronic diarrhea and @PHENOTYPICFEATURE$.	false
+f7cbcbcfdd723e06a845aa516312aa36dc36ce0c	Common variable immunodeficiency disorder (@DISEASE$) is an immunological disease that can present with gastrointestinal (GI) symptoms including chronic diarrhea and @PHENOTYPICFEATURE$.	false
+159e8b90175b9899d0c258d04a87847aea3e06a5	Individuals with primary defects in B-cell antibody production, such as @DISEASE$ of selective IgA deficiency, and those with defects of complement components, have an increased prevalence of @PHENOTYPICFEATURE$--like syndromes or other autoimmune diseases.	false
+6e1de428006570f66c56b9df38efaf200b968b08	We report on an 18-year-old man with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and vomiting due to gastric ulcers caused by reactivation of varicella-zoster virus (VZV).	false
+cba38da6f02b35b2bf445bd5efba43d2c6dea1da	A patient in Pennsylvania, USA, with @DISEASE$ sought care for fever, cough, and @PHENOTYPICFEATURE$.	false
+ffa59887bc1cd5eee86527a8626aaca78bd6ba5c	Up to 60% of the patients with non-treated CVID develop diarrhea and 10% associated idiopathic malabsorption with weight loss.The case of a 50-year-old woman with @DISEASE$-associated diarrhea, @PHENOTYPICFEATURE$ and bloating of one year s duration is reported.	false
+48a070d4ccd87a5a66ae007eae8684a10b236563	We report a case of @DISEASE$ in a fetus at 22 weeks with the ultrasonographic findings of characteristic facial findings, @PHENOTYPICFEATURE$, kyphosis and polyhydramnios.	false
+4b0fbe6fdaff0c55c5153ffe33e0b9db7a3eadef	A collodion baby with facial dysmorphism, @PHENOTYPICFEATURE$, pachygyria and genital hypoplasia: a mild form of @DISEASE$ or a new entity?	false
+60d80fa045618c51623d4f2890db748f5e8d3f4b	@DISEASE$ is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, @PHENOTYPICFEATURE$ and genital hypoplasia.	false
+0b55e741f973938dabed8d783fb1444f4094c652	We present a case of @DISEASE$ in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, @PHENOTYPICFEATURE$, and hypoplastic genitalia.	false
+bb6b4c28ef897a396326755f8b3cd3aea57d5c6b	@DISEASE$ (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, @PHENOTYPICFEATURE$, and perinatal lethality.	false
+dc062471d8688120cd6d8cd533d831548558ae4d	Mutations in the genes that encode the two proteins that coordinate this electrochemical conversion process (the DHPR and RyR1) result in a variety of skeletal muscle disorders including @PHENOTYPICFEATURE$ (MH), central core disease (CCD), multiminicore disease, @DISEASE$, and hypokalemic periodic paralysis.	false
+3d09a7af1a11171d668b41f1b6ef4c1845cbba00	Clinical update on @PHENOTYPICFEATURE$ in @DISEASE$ and the X-chromosome.	false
+8cf2c7ce14e6733ea109950666bff5d0b0e4d0f5	X-inactivation and cytogenetic studies in a family with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+83485cd470a24be6992e12c7dc9ed062932564ae	PS comprises @DISEASE$ and @PHENOTYPICFEATURE$ in females.	false
+06e33ad8b2970cf05064a910f68d78dabc611362	@PHENOTYPICFEATURE$ in @DISEASE$: a case report.	false
+ea15ee042eb3a27d55359f7aa887fb54f9199856	First-trimester screening for trisomies 18 and 13, triploidy and @DISEASE$ by detailed @PHENOTYPICFEATURE$ scan.	false
+872aed3901d2fa729ae8f6ebeb9a944734c661d3	Although there is a documented relationship between @DISEASE$ and @PHENOTYPICFEATURE$, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction.	false
+46e2d990a32698b4f62180c3d368f11a39e29618	Although there is a documented relationship between Turner syndrome and @PHENOTYPICFEATURE$, there are no previous studies or case reports linking @DISEASE$ and vestibular dysfunction.	false
+3e78f9f3bfa1b617f2b7f02cbda1658f9e6d1bcc	Although there is a documented relationship between @DISEASE$ and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and @PHENOTYPICFEATURE$.	false
+617785f96ab561728c137ac3af50f40e7dcb8757	Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2e21f4a28ed7cfc4cc1c0733075a5ffc52855a57	A single patient with a history of @DISEASE$ who was found to have significant bilateral @PHENOTYPICFEATURE$.	false
+14909049bcd6b265f0fd6a2fd02527312eebf245	Two children (9%) demonstrated @PHENOTYPICFEATURE$ attributable to @DISEASE$.	false
+91e36020d39c9a4a15738a9fa1b0b11c47e52bd0	We report a 15-year-old girl with @DISEASE$, unilateral sensorineural deafness, @PHENOTYPICFEATURE$ in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome.	false
+f086007210930bc3e50ef2b203adc92ca326d29e	We report a 15-year-old girl with @DISEASE$, unilateral @PHENOTYPICFEATURE$, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome.	false
+7251a221ec5814550ce74a96f03bca78f5424100	We have presented a case of a woman with @DISEASE$ with asymptomatic @PHENOTYPICFEATURE$ demonstrated with VOG testing.	false
+2b30be3976a4a56102cce19c2e939ceafb3f9df5	Renal medullary carcinoma (RMC), a rare and highly aggressive @PHENOTYPICFEATURE$ which occurs in patients with @DISEASE$, shares many clinicopathological features with collecting duct carcinoma (CDC).	false
+151e7fecd4e4a8c979bc43144212cc9591f97fca	Intrathoracic extramedullary hematopoiesis simulating @PHENOTYPICFEATURE$, in a patient with @DISEASE$.	false
+93147bc5c967245f4f86c8df563ea6bc1ca0b2a7	Although pulmonary infarction is usually associated with pulmonary thromboembolism, it can occur with other disorders such as vasculitis, angioinvasive infections, @DISEASE$, @PHENOTYPICFEATURE$ embolism, and pulmonary torsion.	false
+f8c5d5601b93be885838de4b99539124581140ff	The activity of RRx-001 as a chemosensitizer in multiple @PHENOTYPICFEATURE$ types and disease states including malaria, hemorrhagic shock and @DISEASE$, are the subject of future reviews.	false
+d5366941f5f4fb463ab7e28cf5c1a892a691d2a3	Hematolymphoid neoplasms, including lymphoma and myeloid @PHENOTYPICFEATURE$, can occur in patients with @DISEASE$ (SCD) or equivalent hemoglobinopathy, but an underlying connection between the two conditions has yet to be fully determined.	false
+70b6515d4719ee9b0ed2b1c0a29776219c1099c9	Hematolymphoid @PHENOTYPICFEATURE$, including lymphoma and myeloid neoplasms, can occur in patients with @DISEASE$ (SCD) or equivalent hemoglobinopathy, but an underlying connection between the two conditions has yet to be fully determined.	false
+2d5dbf4f14e109ea81d97da3bc08573a31903752	Human induced pluripotent stem (iPS) cells hold great promise for therapy of a number of degenerative diseases such as ischemic heart failure, @PHENOTYPICFEATURE$'s disease, Alzheimer's disease, diabetes mellitus, @DISEASE$ and Huntington disease.	false
+8919ecdbd007d4f8a6c9e27beb282b9c17388d86	Anaplastic Ependymoma in a Child With @DISEASE$: A Case Report Highlighting Treatment Challenges for Young Children With Central Nervous System @PHENOTYPICFEATURE$ and Underlying Vasculopathy.	false
+b0a2643bf650a7a29c434497d9548ce645b95594	Good response of glioblastoma in a child with @DISEASE$ supports the therapeutic potential of @PHENOTYPICFEATURE$ infarcting agents.	false
+b17c6116b7559932a9461d46bf7b1e4ead3d75bc	Promising data have been obtained in experimental models of @PHENOTYPICFEATURE$ angiogenesis and @DISEASE$.	false
+bd9f7096af51704dbd2a59f409651e0970424db9	hemophilia, @DISEASE$), leukosis, and @PHENOTYPICFEATURE$ and necrosis following cortisone and cytostatic therapy.	false
+70a6e88e943bc024ead53d678677603b059daf34	We report an 11 and a half-year-old boy with @DISEASE$ with severe @PHENOTYPICFEATURE$.	false
+77db2f270bfbb86f319ebed7eafc4af34e9aa255	The number of temporal mandibular joint (TMJ) ankylosis with @PHENOTYPICFEATURE$, micrognathia; 1st & 2nd bronchial arch syndrome and @DISEASE$ patients were 32, 9, 2 and 3 respectively.	false
+793c2f5988221a0e53e1dd8e9ec329234b6313f3	The number of temporal mandibular joint (TMJ) ankylosis with micrognathia, @PHENOTYPICFEATURE$; 1st & 2nd bronchial arch syndrome and @DISEASE$ patients were 32, 9, 2 and 3 respectively.	false
+2ca690af495a1fc9753dfc627422db8a276f5aaf	Crouzon's syndrome, or @DISEASE$, is a rare congenital abnormality which may be associated with life-threatening conditions, such as @PHENOTYPICFEATURE$.	false
+daed93df6842c6f61c0317ac22a3ac562180f7ed	A web based survey was set up, showing records of four patients with different conditions: hemifacial microsomia (case 1), bilateral @PHENOTYPICFEATURE$ (case 2), cleft lip and palate (case 3) and @DISEASE$ (case 4).	false
+49d95a3be0e958e3eb2e18fc04b3e573eb0e2e61	One model of the normal face and eight pathologic models of craniofacial deformities were created: microgenia, @PHENOTYPICFEATURE$, prognathia, temporomandibular joint ankylosis, maxillary hypoplasia, @DISEASE$ with and without the need for cranial vault expansion, and bicoronal craniosynostosis.	false
+1feab52eec863dd7859094735a3dbd0582f59543	BackroundMicrocephaly can either be isolated or it may coexist with other neurological entities and/or multiple congenital anomalies, known @DISEASE$ @PHENOTYPICFEATURE$.	false
+aa56fb21b53e00ae8e8c1b77e10862d4c6edfbea	The associated @DISEASE$ and @PHENOTYPICFEATURE$ were consistent with the clinical diagnosis of 4H syndrome.	false
+938e1b6bd2a5478267623015f3f7eadc816cc532	In the latter, hypogonadism has either a central origin (@DISEASE$) or peripheral origin (@PHENOTYPICFEATURE$).	false
+bffbd81c069646bf27ff8df56584d6dcdfdece7b	The 4H syndrome (hypomyelination, @PHENOTYPICFEATURE$, @DISEASE$) is a newly recognized leukodystrophy.	false
+f779128c079f4666f4dcb61330010c1fd705480d	Eleven patients (73%) had @DISEASE$, and 4 (27%) had @PHENOTYPICFEATURE$.	false
+71e8f71e2e4d841fbe48725521336a9be3cc5948	Thirty-nine patients, evaluated between January 2007 and May 2011, were divided into normogonadotropic hypogonadism, @PHENOTYPICFEATURE$ and @DISEASE$ groups.	false
+bffbd81c069646bf27ff8df56584d6dcdfdece7b	The 4H syndrome (hypomyelination, @PHENOTYPICFEATURE$, @DISEASE$) is a newly recognized leukodystrophy.	false
+f016cdb239927e163ea926880c19a1b8344fe089	The main differential diagnoses of delayed puberty include self-limited delayed puberty (DP), idiopathic @DISEASE$ (IHH) and @PHENOTYPICFEATURE$.	false
+6056048251a4c173ee6ad4ef1d3a1cbe429b99ca	Peripheral and central hypomyelination with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e82edeb9c1fa3dbd26e3392417105de5de89c26b	The term 4H was suggested for the rare, novel entity with hypomyelination, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ec53ba86da7024bf1157898aaa5a4030aeb396c3	Twenty patients had @DISEASE$, seven had @PHENOTYPICFEATURE$, eight had hyperprolactinemia, and two had occult hyperthyroidism.	false
+a4433a8d160c4bfd83c9dfab72e230f8cb234483	Objective @PHENOTYPICFEATURE$ responses were seen in dogs with oral mucosal melanoma and @DISEASE$.	false
+35499660cb6f7488ee2b0b4c37fd5b4652ed16fa	@DISEASE$ (mast cell naevus) of the skin represents a relatively rare dermal @PHENOTYPICFEATURE$.	false
+7d1d8736a99d21277df66e7088abe4a5f1dc4e2b	In the last few years, insight into their endogenous roles has come from two rare diseases: @DISEASE$, caused by mutations in CMG2, and @PHENOTYPICFEATURE$, alopecia, pseudo-anodontia, and optic atrophy (GAPO) syndrome, caused by loss-of-function mutations in TEM8.	false
+7a5b5ea0a8147c7aa90c7b81d1f2153c19bad4c8	In the present case, the disclosure of typical @PHENOTYPICFEATURE$ significantly contributed to the differentiation between PKS and @DISEASE$.	false
+4bb0279424401dd1a9ffaec0642520ef041b25cb	We report on a child with @DISEASE$ who showed a characteristic coarse hirsute facial appearance, bilateral cleft lip and palate, cardiac and renal anomalies, dilated bowel and distal @PHENOTYPICFEATURE$.	false
+6940bb3611232673ed2ab297c7cfdfa8f2d1e661	We report on a case of @DISEASE$ with @PHENOTYPICFEATURE$, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+027e51096fbd29c7ce7e1f0b3996a69f0d17500a	We report on a child with @DISEASE$ including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal @PHENOTYPICFEATURE$, absent nipples, bicornuate uterus and early death.	false
+330eb73ed7e926ab224952283bfa15c5b20a2b46	@DISEASE$ is an autosomal recessive, genetically determined condition with variable expression, which includes @PHENOTYPICFEATURE$ features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems.	false
+e59ba551947f62f34316dbc8e6f007b89716ece5	@DISEASE$ is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal @PHENOTYPICFEATURE$, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems.	false
+813bb93afb4111ab30665928c42c0c84d7202928	The syndrome of diaphragmatic hernia, @PHENOTYPICFEATURE$ and distal limb anomalies (@DISEASE$): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.	false
+b34b2b39830b56c3ac719a01c62fea394f699720	Greig cephalopolysyndactyly syndrome (@DISEASE$) is an autosomal dominant disorder with @PHENOTYPICFEATURE$ and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities.	false
+42ef348d241ff59128155d5cf83c1778683bcf3e	@DISEASE$ (GCPS) is an autosomal dominant disorder with @PHENOTYPICFEATURE$ and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities.	false
+0d472e28612d1cff8c08efc7570285df3937aa79	Crossed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4f8a83ea3815a199f959835a989296dfa2f57fd3	@DISEASE$ (GCPS) comprises @PHENOTYPICFEATURE$ with craniofacial malformations without the PHS malformations.	false
+e83d966b9ff97b8b071d23477cd815c8a8dc6ac8	A robust gene-phenotype relationship between GLI3 and @DISEASE$ and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated @PHENOTYPICFEATURE$.	false
+40905805ceaecb30c0672ec52dce278e58fc0c00	A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including @DISEASE$, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic @PHENOTYPICFEATURE$.	false
+c265a9b473d844063c34e0f9569f5d72de4da9a5	A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including @DISEASE$, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and @PHENOTYPICFEATURE$, oral-facial-digital syndrome, and non-syndromic polydactyly.	false
+d2720f926f2b0ee3c5f9fdecf51a8146d538b22b	The occurrence of a fibro-osseous lesion and multiple @PHENOTYPICFEATURE$ in a patient with the @DISEASE$.	false
+96916b856321820931c1518acb62f2218c80bc21	We present two families, with @DISEASE$ with a non-syndromic phenotype, without the characteristic craniofacial anomalies and with the presence of complex digital anomalies including various types of @PHENOTYPICFEATURE$ and syndactyly of the fingers and toes.	false
+5c6bb5e0c04864510f2a08fdb7d534dd8a98d207	Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including @DISEASE$, Pallister-Hall syndrome, and isolated @PHENOTYPICFEATURE$.	false
+fce38161d18d8647f8baa72fb46e4df2270995cc	Patients with extrahepatic @DISEASE$ and with @PHENOTYPICFEATURE$ showed higher GFR 1 year after OLT than those with metabolic and miscellaneous disorders.	false
+306fba5c2a1cbaf465e7a10a10002765960c303e	Issues in differential diagnosis are discussed for the following findings: internal gallbladder echoes (calculi vs tumefactive sludge, air, hematobilia, parasitic infestation, cholecystosis, @PHENOTYPICFEATURE$, and artifacts), gallbladder wall thickening (acute cholecystitis vs acalculous cholecystitis, artifacts, ascites, hypoalbuminemia, hepatitis, and sclerosing cholangitis), pericholecystic fluid (cholecystitis vs ascites, perforated ulcer, and trauma), bile duct dilatation (biliary obstruction vs sclerosing cholangitis, biliary air, anomalous portal system, @DISEASE$, Caroli disease, and cholangiocarcinoma), perinatal and neonatal biliary disease, and sclerosing cholangitis.	false
+408385ddebd3156a147759147ae580d8b98d1624	@DISEASE$ and @PHENOTYPICFEATURE$ in polysplenia syndrome.	false
+4990f2841c17b17a33c29bc53d4e92b58cecf618	Spina bifida without anencephaly, @PHENOTYPICFEATURE$, lung agenesis or dysgenesis, and @DISEASE$ were associated with a higher risk of being hospitalized with RSV lower respiratory tract infection and an increased severity of disease when hospitalized.	false
+5ce2b056511acf83141f093293ea4f88996d14f4	Extrahepatic @DISEASE$ and @PHENOTYPICFEATURE$ in fetal alcohol syndrome.	false
+60f0fc033ca7f3a9b7423f4b3b6048bdeb06334a	The authors report 3 cases of liver transplantations in children between 4 and 10 years of age, complicated with malignant hepatic @PHENOTYPICFEATURE$ after @DISEASE$.	false
+96c37eb1f303b8e480409e14fea45d7400b516df	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral @PHENOTYPICFEATURE$ of the big toes.	false
+6509e1db6f0548cdcc4a2a91f093837fbe9bf6b7	@DISEASE$ (TRPS) is an autosomal-dominant congenital hair loss disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral @PHENOTYPICFEATURE$ of the big toes.	false
+b96893ee12823cb600a74864b126077c4cb66fb1	However, despite physical resemblance to the @DISEASE$ variants, cytological analysis showed a structurally normal chromosome 8 and no @PHENOTYPICFEATURE$ was apparent.	false
+80c09cb577f5f048a29af4b723a1975879993328	In contrast to TRPS I patients, most @DISEASE$ II patients have cytogenetically visible deletions and are often @PHENOTYPICFEATURE$.	false
+7cf6a6db5e5b1a881d5eea1d33399b7c148de8d8	In contrast to @DISEASE$ I patients, most TRPS II patients have cytogenetically visible deletions and are often @PHENOTYPICFEATURE$.	false
+96fa52acd06f20c50f6c7841cf35f754e8248e94	All three showed clinical features typical of @DISEASE$ I such as temporal alopecia and facial abnormalities, but no @PHENOTYPICFEATURE$.	false
+0d83f87b6c49aed3d76d35fe1e07000ccd7e0e60	A few patients with @DISEASE$ are @PHENOTYPICFEATURE$.	false
+1b5d89a0bbbb835b4e0fe3412c97df9eb890adc5	In addition, absence of @PHENOTYPICFEATURE$ and cartilaginous exostoses are required for the diagnosis of @DISEASE$ III.	false
+fd6af267f21586faffcd5a6a91439c841db0d572	Given that tricho-rhino-phalangeal syndrome (@DISEASE$) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, @PHENOTYPICFEATURE$) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.	false
+137d1c461fd919ccc6c577b924bd01c61c5819d8	Given that tricho-rhino-phalangeal syndrome (@DISEASE$) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, @PHENOTYPICFEATURE$ and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.	false
+cb2af4c2440187dbf1f86d52f4df6495b541e7e3	This suggests that @PHENOTYPICFEATURE$ in @DISEASE$ is caused by genes outside the 5-Mb region.	false
+8f5db6d68b3b663ccc9ed9193821ca65b0720094	Here we describe a 14.5-year-old girl with @PHENOTYPICFEATURE$ and @DISEASE$ II.	false
+69c7d33ec042415873c1aab723e45de0d4cdcd2d	Previous genotype-phenotype studies have correlated exon 6 missense mutations with @DISEASE$ type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and @PHENOTYPICFEATURE$.	false
+26200195aed5de04100bc480ca64bf78a5384617	Previous genotype-phenotype studies have correlated exon 6 missense mutations with @DISEASE$ type III, a severe form of type I with pronounced, facial characteristics, short stature and @PHENOTYPICFEATURE$ and differing from type II by the absence of exostoses and mental retardation.	false
+1b309da5b03d7df321952bdb8e5f27ffdf1d1647	@DISEASE$ is a rare genetic condition manifested by lipomatous overgrowth of the trunk, vascular, and epidermal abnormalities, and @PHENOTYPICFEATURE$ including spinal deformity.	false
+ca67119b7f00b6aca1e36824bbe03557c30be225	Phenotypic progression of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+63e7a25779cb887ab85d667f8c3a727393f2d1e5	We herein report a very rare case of @DISEASE$ with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and @PHENOTYPICFEATURE$ (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet).	false
+9be05dc7aa25d4248643dc4c71cc8567962fa17a	@DISEASE$ (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal nevi, @PHENOTYPICFEATURE$) is a sporadic malformational syndrome that has recently been described (mutation of PIK3CA), with asymmetric body hypertrophy, lipomatous hamartoma of the trunk and numerous malformations.	false
+eef5bf0a7bddcac8ccfe9462cfd936d2c951f85a	@DISEASE$ is characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$ (Scoliosis).	false
+4538b80f78b28c8faf60133125ddb5eee6786701	@DISEASE$ is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$.	false
+1cfe47f70d5a52eb0d8cf420d66d175a70bdd060	Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (@DISEASE$) and PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS).	false
+415db449248925d8bf0b50384e1b39cdf6c71e0b	Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), @DISEASE$ (HMPS) and PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS).	false
+dfa8a94a7af975cbbf4248c1d5d6953c5653448f	Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN @PHENOTYPICFEATURE$ tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as @DISEASE$.	false
+9d251900bb05871163590b2b1c42dde58131fe81	These syndromes include juvenile polyposis, Peutz-Jeghers syndrome, @DISEASE$, and the phosphatase and tensin homolog gene (PTEN) @PHENOTYPICFEATURE$ tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and Cronkhite-Canada syndrome, which is acquired.	false
+8563be655f591f98390be85e39f4b6dae4c8cb29	There is, however, increasing recognition of syndromes, including familial adenomatous polyposis, juvenile polyposis coli, Peutz-Jeghers syndrome, and infrequent conditions, such as PTEN @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7fa017e1249f9a957dbb405ed0c627e8d2516419	The reported risk factors of this age group are cardiopathies, hypertension, smoking, hypercholesterolemia, reduction of anticoagulant proteins, hypercoagulable states, antiphospholipid antibodies primary syndrome, antiphospholipid antibodies secondary syndrome, some hemoglobinopathies, hyperviscosity syndromes, vasculitis, collagen vascular diseases, @DISEASE$, arterial dissections, migraine, myopathy encephalopathy lactic acidosis stroke like episodes, homocystinuria, familial amyloid angiopathy, microangiopathy with retinopathy encephalopathy and @PHENOTYPICFEATURE$, systemic lupus erythematosus, use of cocaine, traumas or manipulations of neck, AIDS.	false
+76c27376ca3ef18315767b6f84dba291c9dc13da	There was no statistically significant association of dialysis for type of revascularization (percutaneous transluminal angioplasty, autogenous artery, saphenous vein, endarterectomy or synthetic material), simultaneous or previous aortic or other vascular surgery (carotid endarterectomy, femoropopliteal bypass, etc.), pathology (atherosclerosis or @DISEASE$), number of renal arteries stenosed or treated, length of follow-up, age, coronary artery disease, @PHENOTYPICFEATURE$, stroke, chronic lung disease or type II diabetes.	false
+dff8e0d6c991b20b2c1286ff61e2448f9fea87f0	We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cerebral, abdominal and probably coronary arteries due to suspected @DISEASE$, congenital @PHENOTYPICFEATURE$, brachydactyly and syndactyly of the hands and feet, and increased bone fragility consistent with a mild form of osteogenesis imperfecta.	false
+ad1d87441a9516ba981f43a440f84ca51806c000	The newborn suffered from @DISEASE$ of the coronary arteries and a @PHENOTYPICFEATURE$.	false
+40d6d380524dfeacae0d43d604c600e60314856c	Included among the subjects discussed in functional consequences are coronary spasm, coronary reserve, chest pain, electrical instability of the heart, and comments on the role of focal @DISEASE$ of small coronary arteries in hypertension, myocardial hypertrophy and @PHENOTYPICFEATURE$.	false
+207f90512b2ea62098a08915372638941e87b458	Here we report a familial syndrome of @DISEASE$, @PHENOTYPICFEATURE$, diffuse agyria, and severe cerebellar hypoplasia.	false
+acb38b8f14dd0f938faf19d86db2c660481d69df	Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, @PHENOTYPICFEATURE$, malformations of cortical development (such as polymicrogyria, and @DISEASE$-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses.	false
+20184fe9f12eb4cc5049b2cc8e16ae310befc44e	Besides the classical manifestations of cutaneous borreliosis like @PHENOTYPICFEATURE$ (chronicum) migrans, borrelial lymphocytoma and acrodermatitis chronica atrophicans evidence is growing that at least in part also other skin manifestations, especially morphea, lichen sclerosus and cases of cutaneous B-cell lymphoma are causally related to infections with @DISEASE$.	false
+2a5b041251391fc78bfe15202f187736fab3862d	Of these 20 patients, 17 had @DISEASE$, one had arthritis and carditis, one had myalgia, and one had @PHENOTYPICFEATURE$ and arthralgia.	false
+625c2eb2b1b9a096f96a46d2dc85ef6a80950b1f	The domestic pig as a potential model for @DISEASE$ @PHENOTYPICFEATURE$.	false
+d30b214501e4af2ce96434500d674f068864f98b	[@DISEASE$ syndrome with epilepsy, @PHENOTYPICFEATURE$ and multiple dysmorphias].	false
+ee74acf9dbd72f1d3fd265d5c0d43e819c508c23	Six outcomes associated with use of antipsychotics included: diabetes, obesity, @PHENOTYPICFEATURE$, hyperprolactinemia, cardiovascular disease (CVD) (including hypertension, ventricular arrhythmia, and other CVDs), and extrapyramidal symptoms (EPS) (including dystonia, akathisia, parkinsonism, and @DISEASE$).	false
+1488cf70d57813c3249d67d55a7be2fb158833e9	Six outcomes associated with use of antipsychotics included: diabetes, obesity, hyperlipidemia, @PHENOTYPICFEATURE$, cardiovascular disease (CVD) (including hypertension, ventricular arrhythmia, and other CVDs), and extrapyramidal symptoms (EPS) (including dystonia, akathisia, parkinsonism, and @DISEASE$).	false
+15dded031b6207e14b71589dd80d45e99e626b12	Effects of choline on @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+9b9034172a414974e3a1cf5ed60cbe9e2a789295	@DISEASE$ is a disfiguring @PHENOTYPICFEATURE$ of the orofacial region often caused by antipsychotic drugs.	false
+73aaa751806cdd83371b7612db08603d0469a6d8	@DISEASE$ (TD) is a neuroleptic-induced @PHENOTYPICFEATURE$.	false
+f383633b010cf6dae711542f4458b9d23b87c987	@DISEASE$ and other @PHENOTYPICFEATURE$ in children treated with psychotropic drugs.	false
+6a8df4acff4efd498cac614e61064e330a18a5be	Gamma-vinyl-GABA treatment of @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+01618fc22b99eedc453c7403b274aa96b87d6886	@DISEASE$ is a persistent @PHENOTYPICFEATURE$ induced by chronic neuroleptic exposure.	false
+3ec09411e9620e23da7305c6ac8e415366884c1c	The prevalence of metoclopramide-induced @DISEASE$ and acute extrapyramidal @PHENOTYPICFEATURE$.	false
+e4b9e1452d5750361b854753ca201d484e1036a1	@DISEASE$ (TD) is a @PHENOTYPICFEATURE$ observed after chronic neuroleptic treatment.	false
+616f5469b4e0e557155b09f604b8fc29c621e4fc	@DISEASE$, an involuntary abnormal @PHENOTYPICFEATURE$, is a serious untoward effect of neuroleptic treatment.	false
+2d15db180816ea1000e37a9138141c254c5afaf0	Cholestasis, biliary atresia, and total parenteral nutrition were common topics from 1970 to 1989 and @PHENOTYPICFEATURE$, nonalcoholic fatty liver disease, and @DISEASE$ were common topics after 1990.	false
+d2b04bdeada2e6692f94ee6444cc211aca48e990	In contrast, the frequent exacerbations in those with @DISEASE$ obese asthma can potentially be explained by episodic inflammatory thickening of the airway wall synergizing with @PHENOTYPICFEATURE$-induced reductions in lung volume.	false
+6a32215579ecf3f49c2e97c06b2b6ae459e5c620	Despite the limited number of children included, our results confirm a strong link between prescription of risperidone in @DISEASE$ and risk of @PHENOTYPICFEATURE$.	false
+5e12a0e7c511ab7ac3a55301eef7b1b9c625a442	@DISEASE$ (UAKD) are autosomal-dominant disorders characterized by alteration of urinary concentrating ability, tubulo-interstitial fibrosis, hyperuricaemia and @PHENOTYPICFEATURE$ at the cortico-medullary junction.	false
+2ed8d33c73d63bc711288e030874f9628b4f4bca	@DISEASE$ is associated with hearing @PHENOTYPICFEATURE$, leading to communication deficits and social and psychological restrictions.	false
+ad89da3e3cb4dddeebfdda49de13ce5eb4d3a9ad	We describe herein four patients with the @DISEASE$ who initially presented with @PHENOTYPICFEATURE$.	false
+cd7402c403973bd89cc2b98d6aa5f422891c1f67	@DISEASE$ is doubtless the more known pleural @PHENOTYPICFEATURE$.	false
+7cf213fb5e3de40b20012a9a361946315c2e8a0f	Recent evidences suggest that @DISEASE$ may be sensitive to immunotherapy; however, little is known about malignant mesothelioma-associated @PHENOTYPICFEATURE$ antigens.	false
+4eee8819411225355bae2c59c6aa0b6c64788f8d	Recent evidences suggest that malignant mesothelioma may be sensitive to immunotherapy; however, little is known about @DISEASE$-associated @PHENOTYPICFEATURE$ antigens.	false
+4f0022fa7508dbb02e9f584f7f1224dc1653c340	@DISEASE$ is an aggressive, therapy-resistant @PHENOTYPICFEATURE$.	false
+187b5d47ccbaab627c4e6cacebfc65ec157302fa	@DISEASE$ is an asbestos-induced, aggressive @PHENOTYPICFEATURE$.	false
+88118b53a8e6c1a143917bf0b2853595ad389021	Primary thymic epithelial @PHENOTYPICFEATURE$ of the pleura mimicking @DISEASE$.	false
+8c4d189d7bd33ffbeb98bc63549c7ae509b2a77f	@DISEASE$ is a highly aggressive @PHENOTYPICFEATURE$.	false
+befcb9ffa5615002358bd99c0ae25e1e1fe45e56	[A rare peritoneal @PHENOTYPICFEATURE$: @DISEASE$].	false
+27bba9f00b8f3d1fc4e63031679bd7c6d1c8466b	Pleural metastases mimic @DISEASE$ result from rare @PHENOTYPICFEATURE$.	false
+b1b3c1992a577efe4e0bbb9d73e09cd4a7c970bc	Primary @DISEASE$ presenting as an umbilical @PHENOTYPICFEATURE$.	false
+5dbf4cb40b578d29854d5d8a278005a122447785	@DISEASE$ is a rare @PHENOTYPICFEATURE$ in childhood.	false
+2830d7442619d6a52e966209cd48d159c1d839c8	To assess the frequency and types of @PHENOTYPICFEATURE$ observed among patients with trisomy 18, or @DISEASE$ (ES).	false
+03c6a2430146be3773479e86221a825fc6b54c0f	The upregulation of CCL19 in @DISEASE$ may play a protective role by limiting eosinophil infiltration and the extent of @PHENOTYPICFEATURE$ to exert anti-inflammatory and immunomodulatory effects.	false
+e28c17a8d1af4ab44e15e56afeb276f06e3c63aa	A 10-month-old child affected by @DISEASE$ with congenital hearth disease, perceptive deafness and microcephaly, was admitted because of vomiting and @PHENOTYPICFEATURE$.	false
+5b59b47756edfff0491a2e87e1b8b23d9ddc1702	Inflammatory cell infiltrate, @PHENOTYPICFEATURE$, and fibrosis were found in @DISEASE$.	false
+bcbbcc9240c169174492bfa412d7518ec89f17cc	@DISEASE$ patients may have a risk factor for developing pressure ulcers of the foot due to the characteristic @PHENOTYPICFEATURE$ and a loss of sensation.	false
+1b1dcce1184e4e96bbbb7852a479ce8f205b9321	Thickened secretions, mucosal @PHENOTYPICFEATURE$, and polyp formation are pathological features in chronic rhinosinusitis (@DISEASE$) that could theoretically be caused by aberrant water flow through sinonasal mucosa.	false
+9239d8088a36f44ab60ad0ba8a93fa07e79f964b	Caucasian eosinophilic chronic rhinosinusitis (CRS) with polyps associated or not with cystic fibrosis was discriminated by @PHENOTYPICFEATURE$ from @DISEASE$ without nasal polyps, characterized by extensive fibrotic fields.	false
+7c1ecec17c25321da7b33e842fbc1384a82acc49	Caucasian eosinophilic chronic rhinosinusitis (@DISEASE$) with polyps associated or not with cystic fibrosis was discriminated by @PHENOTYPICFEATURE$ from CRS without nasal polyps, characterized by extensive fibrotic fields.	false
+74dae8a53619a3c8e9105f9de68107b36aab65b8	Background Nasal polyps (NP) are characterized by pseudocysts derived from stromal tissue @PHENOTYPICFEATURE$ and cause persistent infections in patients with chronic rhinosinusitis (@DISEASE$).	false
+508efde2f6cff41c95d68b32c9a198c918a24bf0	Nasal polyp and CF-NP were discriminated by @PHENOTYPICFEATURE$ from @DISEASE$ and controls, with CF-NP displaying a very prominent neutrophilic inflammation.	false
+41ece1a17bc87a5377bcefcc9dcb2cff49e019d4	Corneal @PHENOTYPICFEATURE$ occurring in the @DISEASE$ can result from coexistent glaucoma or develop in the absence of an elevated intraocular pressure.	false
+ac7b635d518dbd88c6ac9a661055ac43c09c7947	The mucosal changes that occur in @DISEASE$ have been well described, and include @PHENOTYPICFEATURE$, decreased number of ciliated cells, and goblet cell hyperplasia.	false
+928ee560019b3d309143cdbda08a0548070ba9a5	Five other autosomal dominant diseases show more heterogeneous clinical patterns, such as the Carney complex, @PHENOTYPICFEATURE$-jaw tumour syndrome, Von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1) and @DISEASE$.	false
+8236a792a87f59ac7023bcc370a70ed3826dd0b3	The etiologies of cortical dysplasias (CD) are diverse, and include inherited genetic syndromes such as Miller-Dieker or X-linked lissencephaly, subcortical band heterotopia, and the @DISEASE$, as well as nongenetic exogenous insults such as hypoxic-ischemic injury, viral or other type of @PHENOTYPICFEATURE$, or traumatic injury.	false
+48552f36f3bf0b97caf94c22dac82ff19288cdae	@DISEASE$ (TSC) is an autosomal, dominantly inherited neurocutaneous syndrome characterized by a wide range of @PHENOTYPICFEATURE$, tumors of different organs, and variable clinical symtomatology and severity.	false
+a981e55140e41bbd46867ef970e6896eff6a4f88	@DISEASE$ (TSC) is a disease featuring devastating and therapeutically challenging @PHENOTYPICFEATURE$.	false
+7034835ecf5ee3a373fe5add09583bc6631a8298	Of these epileptic children, there were 7 children (35%) with associated @PHENOTYPICFEATURE$ and/or mental retardation, including one with @DISEASE$.	false
+1d13e8c2e14b1ad00e3a34ecd746b33fc3fdf6bd	Mice with inactivation of the @DISEASE$-1 (Tsc1) gene in glia (Tsc1 GFAP CKO mice) have deficient astrocyte glutamate transporters and develop seizures, suggesting that abnormal glutamate homeostasis contributes to @PHENOTYPICFEATURE$ in these mice.	false
+ff4107c673ea699ed8f8b45525929d3297ed7d98	Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as hydrocephalus, @DISEASE$, Friedreich ataxia, mitochondrial encephalo-myopathies, Werdnig-Hoffmann disease, convulsive disorders, syncope, @PHENOTYPICFEATURE$, etc.	false
+e6d6f7cac865dd2a9b33bc41229854cb5aa2d2d3	Persons affected with @DISEASE$ (TSC) develop a wide range of @PHENOTYPICFEATURE$ including aberrant neuronal migration and seizures.	false
+5937ba1c148c77c6754969b329883d36b3a007ce	Individuals with @DISEASE$ (TSC) exhibit a variety of @PHENOTYPICFEATURE$, including mental retardation, epilepsy, and autism.	false
+fa014b97b3f43a6444c1c302d5f0742c193db47a	Though a diagnosis of neonatal @DISEASE$ was made, the association of @PHENOTYPICFEATURE$ and intestinal obstruction was a rare and unusual finding.	false
+46476019f9bc9b048a1ea0722b7e45e731be7a77	Chamber-specific cardiac expression of Tbx5 and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+f56fda8e3a8717f016b9a6614b9937ae4e094dc9	This is an unusual case of a patient with @DISEASE$ associated with facial anomalies: hemifacial microsomia on the right side, forehead prominent and tall, hypertelorism, depressed nasal bridge, low set ears and @PHENOTYPICFEATURE$.	false
+d76f3c5c86a61aa9686d4c600f82a2fbc70169e9	This is an unusual case of a patient with @DISEASE$ associated with facial anomalies: hemifacial microsomia on the right side, forehead prominent and tall, @PHENOTYPICFEATURE$, depressed nasal bridge, low set ears and micrognathia.	false
+e0b55ee4b8e0ab20ffb9e9adb210345cc02f58e2	Holt-Oram syndrome (@DISEASE$) is a rare but significant syndrome consisting of structural @PHENOTYPICFEATURE$, conduction abnormalities, and upper extremity anomalies.	false
+1b4a30e784fe639835a549beea5529c9e92b462f	@DISEASE$ (HOS) is a rare but significant syndrome consisting of structural @PHENOTYPICFEATURE$, conduction abnormalities, and upper extremity anomalies.	false
+1411ca6e3ebccb899f999f6d39a359f2cf83acee	Holt-Oram syndrome (@DISEASE$) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and @PHENOTYPICFEATURE$.	false
+54b1a902d0b50c777b493809390bf76392be1879	@DISEASE$ (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and @PHENOTYPICFEATURE$.	false
+98d28587b7390b35ee22fe2d0c4b0a78a73ceea7	Syndromic anorectal malformation associated with @DISEASE$, microcephaly, and bilateral @PHENOTYPICFEATURE$: a case report.	false
+be5f6c748835024295d45d1c37eabcf40e05714e	Holt-Oram syndrome (@DISEASE$) is an autosomal dominant disorder characterised by upper limb anomalies and @PHENOTYPICFEATURE$.	false
+80b76c9207c7dee8f7de16a03cd3ec6b082dccec	@DISEASE$ (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and @PHENOTYPICFEATURE$.	false
+c0f40ac1d0d4db0a19a24ccea96c48e79231a3a0	Mutations in the T-box transcription factor TBX5 cause Holt-Oram syndrome (@DISEASE$), which results in forelimb and @PHENOTYPICFEATURE$.	false
+3dd5612ac8cc95cab08be0d9eecd393245bfaa4e	Mutations in the T-box transcription factor TBX5 cause @DISEASE$ (HOS), which results in forelimb and @PHENOTYPICFEATURE$.	false
+9059d4d2cdc5efba7248ec5a62071b77ccc0a361	Haploinsufficiency and gene duplication of Tbx5 are at the basis of the @PHENOTYPICFEATURE$ associated with Holt-Oram syndrome (@DISEASE$).	false
+7ba048e8d75b1e4caef700ca535e64a2c2f42051	Haploinsufficiency and gene duplication of Tbx5 are at the basis of the @PHENOTYPICFEATURE$ associated with @DISEASE$ (HOS).	false
+a044997551fecc3a369e16f8bff81fc8c55e93d0	We studied three families in which patients with the @DISEASE$ (HOS) had various skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+2272cc46c6c3fa5822c586fe7319de4c7353c7b2	We studied three families in which patients with the Holt-Oram syndrome (@DISEASE$) had various skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+199f56450a66116629759c06862e59b12332ae24	[A case report of the radical correction of a @PHENOTYPICFEATURE$ and peripheral pulmonary stenosis in association with @DISEASE$].	false
+c429ce44a530f7d4eb79ef4670d75841390230d7	The cardiovascular symptoms and the associated diseases are revised, and we discussed the diagnostic and therapeutic topics, pointing out the necessity to take it into account for any patient with @DISEASE$ or myasthenia gravis developing to heart failure or @PHENOTYPICFEATURE$.	false
+53e88df5c15c7ca9ce4304e1dee51127223373ba	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (@DISEASE$), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, @PHENOTYPICFEATURE$, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+9298598cba570c51448c442063f1f36a39385253	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as @DISEASE$ (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, @PHENOTYPICFEATURE$, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+a1a1e82bee2bcbb02c67486cbc93955594877974	Our clinical and genetic findings indicate that this previously reported @DISEASE$ family has @PHENOTYPICFEATURE$-jaw tumour syndrome.	false
+db8d0e861a3a04400ec6818e8ea585b0ea4e954a	Genetic analyses in patients with @DISEASE$ and @PHENOTYPICFEATURE$-jaw tumour syndrome.	false
+82bc69e4b115be83a7beb0ffd55d5acf57427827	Hereditary hyperparathyroidism has been reported to occur in 5-10 % of cases of primary hyperparathyroidism in the context of multiple endocrine neoplasia (MEN) types 1, 2A and 4; hyperparathyroidism-jaw tumour (HPT-JT); @DISEASE$ (FIHPT); familial hypocalciuric hypercalcaemia (FHH); neonatal severe hyperparathyroidism (NSHPT) and autosomal dominant moderate @PHENOTYPICFEATURE$ (ADMH).	false
+cf1ada09be35fa3c2620f19b029e828f9ba84086	Hereditary hyperparathyroidism has been reported to occur in 5-10 % of cases of primary hyperparathyroidism in the context of multiple endocrine neoplasia (MEN) types 1, 2A and 4; @PHENOTYPICFEATURE$-jaw tumour (HPT-JT); @DISEASE$ (FIHPT); familial hypocalciuric hypercalcaemia (FHH); neonatal severe hyperparathyroidism (NSHPT) and autosomal dominant moderate hyperparathyroidism (ADMH).	false
+a0a0329673d139f7365862dced08829a8edb676f	In the clinical setting, the diagnosis and management of @DISEASE$ (FIHP) and other familial @PHENOTYPICFEATURE$ (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family.	false
+9d9eb54a5ffc3e7c638c402f78c16ff492f695f9	Familial hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2A), @PHENOTYPICFEATURE$-jaw tumour (HPT-JT) syndrome and @DISEASE$ (FIHP).	false
+1902d673f2d0074652e22d28bb5dec012068f0cc	The hereditary syndromes include multiple endocrine neoplasia types 1 (MEN 1) and 2A (MEN 2A), hereditary hyperparathyroidism-jaw tumor (HPTJT), @DISEASE$ (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe @PHENOTYPICFEATURE$ (NSHPT).	false
+705e59f75c1387841a66e259d6899331798f2be0	The hereditary syndromes include multiple endocrine neoplasia types 1 (MEN 1) and 2A (MEN 2A), hereditary @PHENOTYPICFEATURE$-jaw tumor (HPTJT), @DISEASE$ (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).	false
+f29b305339cd333a5e3dfb033a9de3d884e68bf1	To investigate two patients with the @PHENOTYPICFEATURE$-jaw tumour (HPT-JT) syndrome and three patients with @DISEASE$ (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations.	false
+302e08c5704481d2afdadc76d611452136de9a7a	It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and @DISEASE$ (FIHP).	false
+a92a3aedf3433d082ae05e77762597611dccdee8	Germline mutations in the HRPT2 gene are associated with the hereditary @PHENOTYPICFEATURE$-jaw tumour syndrome (HPT-JT) and a subset of @DISEASE$ (FIHP).	false
+0cd442b0d04f72492cfb37036d380a40bf4f2a99	They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), @PHENOTYPICFEATURE$-jaw tumor (HPT-JT) syndrome, @DISEASE$, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT.	false
+daff809828702da21497a9a7eed367247b7c77e4	@DISEASE$ with @PHENOTYPICFEATURE$ and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain.	false
+2276ebcb584ba000ee11b0015f99a1dd7fa17bad	Diagnosis included Hodgkin's disease (47), neuroblastoma (46), non-Hodgkin's lymphoma (37), teratoma (18), @DISEASE$ (14), cystic hygroma (11), Schwannoma (five), germ-cell tumors (three), lipoma (three), thymic tumor (three), malignant histiocytosis (two), neurofibroma (two), mesenchymal sarcoma (one), rhabdomyosarcoma (one), peripheral neuroectodermal tumor (one), @PHENOTYPICFEATURE$ (one), and hemangioma (one).	false
+89bb0c3b4686d6f0d0aaeb91a2b9dae313ece119	[On @PHENOTYPICFEATURE$ (@DISEASE$) of the cerebellum].	false
+dc036a8722e296f29e07299c7b14adc72bdfd274	By indirect immunofluorescence microscopy of cryostat sections, using the monoclonal antibody SY 38 to synaptophysin, a consistent positive immunoreactivity was observed in all medulloblastomas (n = 6) and neuroblastomas (n = 3) as well as a @DISEASE$ and a glioneuronal @PHENOTYPICFEATURE$.	false
+268c2783790f026026a3d2e2d32aca617131d5e6	Giant @PHENOTYPICFEATURE$ coexistent with @DISEASE$.	false
+218b07a8e7782a206ed5150ba67a727f506960b7	While neurofilament proteins were consistently expressed in the neuroblastomas (3/3), the @DISEASE$ and the glioneuronal @PHENOTYPICFEATURE$, IF distribution in medulloblastomas was variable.	false
+4df04c6a80bba63dc335c105000f88c9b7c20a3d	The 174 late side-effects included endocrine disorders (19%), @PHENOTYPICFEATURE$ (14%), orthopedic dysfunction (12%), alopecia (12%), dental damage (11%), psychological (8%) and neurological (8%) disturbances, and @DISEASE$ or amenorrhea (5%).	false
+6cf2cb097ffe5938a93d233c459b8ed6564fe0bb	@DISEASE$ in captive-bred Vervet monkeys (Chlorocebus aethiops) with @PHENOTYPICFEATURE$.	false
+55f958cfcc2adba1b9041c0a06f46bb06a59edff	Two sisters died with @DISEASE$, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+a28605d588a06011299833d64dcb3bafd7339a38	Intellectual disability and/or @PHENOTYPICFEATURE$ was found among 42% of the children with @DISEASE$ and among 82% of the children with CHARGE syndrome.	false
+71797c37f8da4a0188da01f22389379a16fa9793	Mice deficient for the @DISEASE$ (Fanca) or Fanconi anemia complementation group C (Fancc) gene seem to be diabetes-prone, as manifested by significant @PHENOTYPICFEATURE$ and hyperinsulinemia, and rapid weight gain when fed with a high-fat diet.	false
+2344b5f744456d6364003a013a5fd6527136f14b	[@PHENOTYPICFEATURE$, @DISEASE$].	false
+0a7402d0625c3c2ddfdd070006c8333cbf2bb50b	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), @DISEASE$ (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, @PHENOTYPICFEATURE$, clubfoot, joint dislocation and other unique skeletal abnormalities.	false
+fc1595643ec5b09ecae0db8108777fb0d669681a	The use of additional imaging techniques, i.e., mammography, computerized tomography with three-dimensional reconstruction, and magnetic resonance imaging eventually led us to conclude that the condition of our specimen was similar to Piepkorn type @PHENOTYPICFEATURE$, @DISEASE$, and a condition described by Carpenter and Hunter [1982: J Med Genet 19:311-315], though none of these diagnoses seemed fully applicable.	false
+0969eebd4f6a7cb3d654ba170dcbfc332a23aa91	Significant association ( < 0.05) was found between fever and @DISEASE$, between cutaneous @PHENOTYPICFEATURE$ and filariasis and between eosinophilia and filariasis and intestinal helminthiasis.	false
+ff93afc114e947c10bd6bbd9677c16a90636d994	Parotid enlargement, forehead @PHENOTYPICFEATURE$, and suppression of @DISEASE$ as nutritional consequences of ascariasis.	false
+9a2b363c3054983654764a3e69cf1f0173560a6d	@DISEASE$ and its symptoms (fever, chills, @PHENOTYPICFEATURE$, headache, gastrointestinal problems) and upper respiratory symptoms were most common.	false
+84102d15add267129df8025804ff7a64390137e7	Most patients (92.5%) presented with uncomplicated @DISEASE$ characterized by fever, chills, headache, sweating, myalgia/@PHENOTYPICFEATURE$ and parasitaemia???20,000 parasites/?L.	false
+33ecc7c47f5edbcb220befc8a57984328a89f998	The interrelationship of malaria and severe ascariasis was studied in Anjouan children with a previously described syndrome of enlarged parotids, localized forehead @PHENOTYPICFEATURE$, heavy infestation with Ascaris lumbricoides, and unusual freedom from @DISEASE$.	false
+3d12c55feb3d66b577e5d8f0faff6ee373c63ce9	The interrelationship of @DISEASE$ and severe ascariasis was studied in Anjouan children with a previously described syndrome of enlarged parotids, localized forehead @PHENOTYPICFEATURE$, heavy infestation with Ascaris lumbricoides, and unusual freedom from malaria.	false
+2f636e05c62780261af4e3648526844070a58e1c	The common health problems among these female traders were muscular and @PHENOTYPICFEATURE$, symptoms suggestive of @DISEASE$, chronic low back pain and hypertension.	false
+79c2b446e51edb9d37041b225cbdf56f4e93adcd	The following debuts of @DISEASE$ were revealed in servicemen: the frequent (influenza-like, @PHENOTYPICFEATURE$-like, gastrointestinal, bronchopneumonic, typhoid-like) and the rare (abdominal and painful, cerebral: meningeal and comatose, dysentery-like, tuberculosis-like, hemorrhagic).	false
+7a4f901d5f09312198752d5a9a987b46361a88f0	The smear-positives should be treated with antimalarial drugs whereas the smear-negatives should be treated for leptospirosis if they had any of the following: a @PHENOTYPICFEATURE$; lymphadenopathy; abnormal urine sediment (proteinuria or haematuria); and/or no previous history of @DISEASE$.	false
+ab2809dc0bba51d2b6936254e314a09d204e15d5	This review evaluated the use of quinine in comparison to other drugs used for @DISEASE$, arthritis, nocturnal leg cramps, @PHENOTYPICFEATURE$ and systemic lupus erythematosus.	false
+2a73a9f31931b5e4c85b330b450c5347778c97dd	(Kuberaksha) is an Ayurvedic herb used in the management of @DISEASE$, liver disorders, worms, @PHENOTYPICFEATURE$ conditions, etc.	false
+e09f29b2cf45e31b4f18856abef1c6a9b795f26e	This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or rare disorders (juvenile hemochromatosis, @DISEASE$, aceruloplasminemia, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's @PHENOTYPICFEATURE$, and X-linked sideroblastic anemia with ataxia).	false
+e7a5976e2d2a5be123c48a348f605cf8b9521bb1	Many of these disorders are characterized by iron overload and include relatively common diseases such as hereditary hemochromatosis, rare abnormalities of plasma protein synthesis (@DISEASE$ and aceruloplasminemia), and the neuromuscular disease Friedreich @PHENOTYPICFEATURE$.	false
+698d2f757311fbdf899212eef380174725e34c86	Small inherited terminal duplication of 7q with @DISEASE$, cleft palate, @PHENOTYPICFEATURE$, and severe hypotonia.	false
+bbc3c87fe4c03a18c06294640d56b3053cc37cbd	Small inherited terminal duplication of 7q with @DISEASE$, @PHENOTYPICFEATURE$, joint contractures, and severe hypotonia.	false
+a19b35d1ad41dfe1a5dcd86acba903476ace2b7f	Of these, 5 had intracranial calcifications, 2 had retinochoroidal lesions, 4 had intracranial calcifications and retinochoroidal lesions, and 1 had @DISEASE$, @PHENOTYPICFEATURE$, and retinochoroidal lesions.	false
+4c997aa97342c92af98a9303f2e90383788a6c46	Of these, 5 had intracranial calcifications, 2 had retinochoroidal lesions, 4 had @PHENOTYPICFEATURE$ and retinochoroidal lesions, and 1 had @DISEASE$, intracranial calcifications, and retinochoroidal lesions.	false
+91516bd68c8f3ba503bb42147ab6a7401ca389f0	Of these, 5 had @PHENOTYPICFEATURE$, 2 had retinochoroidal lesions, 4 had intracranial calcifications and retinochoroidal lesions, and 1 had @DISEASE$, intracranial calcifications, and retinochoroidal lesions.	false
+2b0cdf71da136ef235159f09c69c4369b65ed0a7	Of these cases, 28% had associated occipital @PHENOTYPICFEATURE$, 45% were syndromic, and 52% also had @DISEASE$.	false
+b06adc166ca1e3e11bd617262df7e9a5586183f0	Fetal autopsy demonstrated @DISEASE$, focal polymicrogyria, and @PHENOTYPICFEATURE$.	false
+162f083faabe910d92ee9e48c0c1f6410038000f	Parvovirus-associated @PHENOTYPICFEATURE$ and @DISEASE$ in day old broiler chickens.	false
+ea9fc0129135461386d6292fc50450e7186472be	All affected individuals had early-onset @PHENOTYPICFEATURE$ and four out of eight displayed learning disability and/or @DISEASE$.	false
+389ec964026fd6eb6ce788d3c8b3448d1fc25eb9	Dandy-Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and @DISEASE$ is often associated with agenesis of the corpus callosum and callosal lipomas, dysplasia of the brainstem, and @PHENOTYPICFEATURE$ or dysgenesis.	false
+9933c803de2e39adc3d6b3d4849d40629c6c4669	Dandy-Walker malformation (DWM), in addition to posterior fossa large cyst, @PHENOTYPICFEATURE$, and @DISEASE$ is often associated with agenesis of the corpus callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis.	false
+afd8796e9fe17f1f636e0eeffcf4819d13f78905	@PHENOTYPICFEATURE$ and supratentorial @DISEASE$ were seen in one patient.	false
+58b3073c64deb852d920ebed1a0def0903de4d56	The fetus had @DISEASE$ and a @PHENOTYPICFEATURE$.	false
+784915f7383986d77be4951489e06e689096e540	We report a 14-month-old girl with submucous cleft palate, resolving mild @DISEASE$, severe hypotonia and @PHENOTYPICFEATURE$.	false
+32123b0521a1bf243b3ca98128fbd16518655f25	We report a 14-month-old girl with submucous @PHENOTYPICFEATURE$, resolving mild @DISEASE$, severe hypotonia and joint contractures.	false
+58d430f520e18975b689e3a0b8bfb3f9ce5e5fda	Shortly after surgery, he developed clear features of @DISEASE$ with adipsic severe hypernatraemia and hypotonic polyuria, which was associated with @PHENOTYPICFEATURE$ that was confirmed with biochemical investigations and cognitive assessments.	false
+a80da798853df4fa24e649281a7af38bab43194c	Of these individuals, 105 remained NCI at the time of their death while the remaining 87 progressed to mild @PHENOTYPICFEATURE$ (MCI) or @DISEASE$.	false
+718c0c75377bfbb4124f082b3a19fe69ce953edb	@DISEASE$ are uncommon and extremely aggressive @PHENOTYPICFEATURE$.	false
+b8fa623b7f9d57f30c8ef36604132fc0ab908932	Alzheimer's disease (@DISEASE$), an irreversible progressive neurodegenerative disease, causes characteristic @PHENOTYPICFEATURE$, and no curative treatments are currently available.	false
+f790b5990a948631da2c8139e807051cca883ca3	Patients with amnestic mild @PHENOTYPICFEATURE$ (aMCI) are at risk of developing Alzheimer's disease (@DISEASE$).	false
+080eec4c064f9c419ea714c5153f842d1a75a5f5	Alzheimer's disease (@DISEASE$) is the most common neurodegenerative disease associated with cognitive decline, loss of memory, and progressive @PHENOTYPICFEATURE$.	false
+d64191417cfbf516eaa982af0764e4f89c809928	The low A? burden and early emotional and @PHENOTYPICFEATURE$ in this transgenic rat model supports its potential use for drug discovery purposes in early @DISEASE$.	false
+d5bacf13e98d84952b5cc719f14e793ba4e1e874	At least one form of residual deficit including @PHENOTYPICFEATURE$ was observed in 69% of all ADS patients, even in monophasic @DISEASE$.	false
+f969d9cbc9d742079e25abe83741bccb70272277	At least one form of residual deficit including @PHENOTYPICFEATURE$ was observed in 69% of all @DISEASE$ patients, even in monophasic ADS.	false
+3ff05d72dcfc4b8455d6842de8fe1a41b6e3721d	@PHENOTYPICFEATURE$ in Alzheimer's disease (@DISEASE$) is usually accompanied by synaptic loss in both the hippocampus and neocortex.	false
+22e579f2921ab55b66f2a5d4af3cfeda7e9a0a91	Thus we aimed to measure selenium (Se) status in Alzheimer's disease (@DISEASE$) and mild @PHENOTYPICFEATURE$ (MCI) elderly and compared them with a control group (CG).	false
+9e64c1c036be3740a15666b2ee5350d36c666775	A well-recognized RASopathy is the cardio-facio-cutaneous (@DISEASE$) syndrome characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$, and mental retardation.	false
+2a40ff29035da6e85ab09b54731034bb3a1a3f24	(Cardiofaciocutaneous @DISEASE$ is a rare disorder characterized by psychomotor and @PHENOTYPICFEATURE$, a typical facial dysmorphism, congenital heart defects, and ectodermal abnormalities.	false
+4fbb0286197bcafd8f3acc3799e38997fb22c8fa	(Cardiofaciocutaneous @DISEASE$ is a rare disorder characterized by psychomotor and growth retardation, a typical facial dysmorphism, @PHENOTYPICFEATURE$, and ectodermal abnormalities.	false
+0f3ba1d7b9ff037f64b246d2c22f83f2ad85828a	We have previously reported that knock-in mice expressing the @DISEASE$-associated mutation, Braf Q241R, showed @PHENOTYPICFEATURE$ because of gastrointestinal dysfunction.	false
+d59d15be6a6d8af9ca2380a6a9d1250df9f5b1b1	Germline mutations in BRAF cause @DISEASE$, which is characterized by @PHENOTYPICFEATURE$, distinctive facial features and ectodermal abnormalities.	false
+f04660c2b2c105f9a9c217140aa1a8f742d35e58	(Cardiofaciocutaneous @DISEASE$ is characterized by distinctive craniofacial features, @PHENOTYPICFEATURE$, and abnormalities of the skin and hair.	false
+7331f6d58cadd5343bdaf8fe111e0a06f007d0b3	Cardio-facio-cutaneous (@DISEASE$) syndrome is characterized by a distinctive facial appearance, @PHENOTYPICFEATURE$ and mental retardation.	false
+cc4aec6f42757335568af2ac97cd3cd29bffcc60	@DISEASE$ is a rare syndrome that is characterized by distinct craniofacial features, @PHENOTYPICFEATURE$, and multiple organ involvement.	false
+4755f768a364c6dc63e1e859fa1f5d2c3c9ebad3	Although both @DISEASE$ and Costello syndrome are characterized by cardiac abnormalities in about three-fourths of patients, the pattern of @PHENOTYPICFEATURE$ (CHD), hypertrophic cardiomyopathy (HCM), and tachycardia differs somewhat.	false
+743c510a5cf2d977575f504e964aee7642fa01bc	Although both @DISEASE$ and Costello syndrome are characterized by @PHENOTYPICFEATURE$ in about three-fourths of patients, the pattern of congenital heart defects (CHD), hypertrophic cardiomyopathy (HCM), and tachycardia differs somewhat.	false
+94b506700b3254196a9cb1f797bfe0a4ceedde75	They showed most of the manifestations of the @DISEASE$: growth and developmental retardation, relative macrocephaly, distinct facial appearance, sparse hair, and @PHENOTYPICFEATURE$.	false
+0f975f3428d9d9787d8bb1294df639c35b144671	Cardio-facio-cutaneous (@DISEASE$) syndrome, a genetic disorder caused by germline mutations in BRAF, KRAS, MAP2K1 and MAP2K2, is characterized by @PHENOTYPICFEATURE$, heart defects, dysmorphic facial appearance and dermatologic abnormalities.	false
+ff8d416cc1a226f0a8800505ffe970aee66af469	Cardio-facio-cutaneous (@DISEASE$) syndrome, a genetic disorder caused by germline mutations in BRAF, KRAS, MAP2K1 and MAP2K2, is characterized by growth retardation, @PHENOTYPICFEATURE$, dysmorphic facial appearance and dermatologic abnormalities.	false
+fd90aad18c7bcaff7e2493d7be43a05d7cf1ba6c	We report six cases of presenile (five) and senile (one) progressive dementia with a mild-to-marked frontal or frontotemporal atrophy and @PHENOTYPICFEATURE$ (Frontal Lobe Degeneration [@DISEASE$]).	false
+7a9a46ccba16e3bae19c6d8c3398a3153008ef7d	Frontal lobe dementia (@DISEASE$) is characterised clinically by personality changes and a progressive @PHENOTYPICFEATURE$ finally leading to mutism.	false
+9e5590cb4a19875ea52cd48f1de662474a983e32	The aim of the study was to examine the impact of familial learning disabilities (@DISEASE$) on the phenotypic profile of 47, XXY males and the possibility that 47, XXY males with more severe cognitive deficits may be partially a consequence of familial @PHENOTYPICFEATURE$/reading disorder.	false
+0fdfec08c941b8cbf049e11f1a067c4e7eb2fd28	@PHENOTYPICFEATURE$ C-related mixed type vitiligo in a patient with @DISEASE$.	false
+4ba153250415cc3c8e4ffcbd49ea5dd180a86319	We report on a patient with Sedaghatian type @DISEASE$ (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe @PHENOTYPICFEATURE$.	false
+7ed5600626fcf96ec549fa24f6e7e28c1ee93506	Simplified gyral pattern with @PHENOTYPICFEATURE$ in Sedaghatian type @DISEASE$: a clinical report and review of the literature.	false
+8b170e37c4d59d5802d34adc6f97219faa658bbf	@DISEASE$ (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare @PHENOTYPICFEATURE$ that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses.	false
+e74d24ebac14a1bf430a7e5c7e189c509b52a0c3	Trabectedin (ET-743) promotes differentiation in @DISEASE$ @PHENOTYPICFEATURE$.	false
+72ff328cd1d0eda57648d0ff933d7b367daed7c9	The @PHENOTYPICFEATURE$ should be differentiated from lipoma, @DISEASE$ and hibernoma.	false
+0f1aba2bc947427396b2184643cfefda497c5f43	@DISEASE$: an unusual primary cardiac @PHENOTYPICFEATURE$.	false
+eddc428280422552fadb08044f33a84e2eb19f4e	Histological diagnosis of both @PHENOTYPICFEATURE$ was @DISEASE$.	false
+c18310022c27f8e53f0103567b834f86c929164f	@DISEASE$ @PHENOTYPICFEATURE$ type was predictive of both pathological and radiological tumor response.	false
+f18fe1088971c9df30f47aaaff56796896972e99	@DISEASE$ tumor type was predictive of both pathological and radiological @PHENOTYPICFEATURE$ response.	false
+be18d71fbb20f53ecf252739c29962dc7f82072b	The @PHENOTYPICFEATURE$ was identified histologically as @DISEASE$.	false
+fe129d0f744389ecc9abb1bbea7b68ea9d1e791e	Multicentric @DISEASE$ is a rather infrequent @PHENOTYPICFEATURE$ that tends to behave aggressively.	false
+539b033e4e482d98bbedb51f6a5c6268050f82cf	@DISEASE$ is a malignant lipogenic @PHENOTYPICFEATURE$ that develops in deep soft tissues.	false
+7691b3df6d06d2fe06ab31c543619f672dc7d855	Primary pleural @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+aec5b383115205bfd41aaf03d391529e17392eca	@DISEASE$ is a rare soft tissue @PHENOTYPICFEATURE$.	false
+351aca05c348a43132b054fd496617f4995639b1	Histologic examination revealed benign fibrous histiocytoma, which is reported to be a very @DISEASE$ @PHENOTYPICFEATURE$.	false
+33ff160bf9163dcc5225a8bf98569c8e3cb0c405	@PHENOTYPICFEATURE$ @DISEASE$ was observed following a single inoculation of larvae or in microfilaremic ferrets.	false
+25f694d15ec57bb594bb858e03eb1d58a7bd4ee9	Hemangiomas of the bone are @DISEASE$ tumors, accounting for 0.5-1% of all benign @PHENOTYPICFEATURE$.	false
+f5800e1ddf84bb8628ea4682309ddb5337638061	@PHENOTYPICFEATURE$ is a @DISEASE$ bone cancer that is aggressive, locally invasive, and has a poor prognosis.	false
+d5589e4a61cff11716ad398d6f31a0811c15eb5f	Chordomas are @DISEASE$ @PHENOTYPICFEATURE$ arising from the embryonic remains of the notochord [18, 30].	false
+ac6435c9566b3a63fefc2d6e61f1fb6d02233ce5	@PHENOTYPICFEATURE$ is a @DISEASE$ bone tumor that originates from the remnants of the notochord.	false
+33e3903d31ea916f537da1d569120db24d39b3d0	@PHENOTYPICFEATURE$ is a @DISEASE$ bone cancer that is believed to originate from notochordal remnants.	false
+79c893e2f01140edd4df5c56de0ceb8c079ca324	@PHENOTYPICFEATURE$ is a @DISEASE$ soft tissue tumour and constitutes less than 1% of all soft tissue cancers.	false
+bfe8d8dbb5449b9dea5f22df86e8a3e5e1a1703d	@PHENOTYPICFEATURE$, a @DISEASE$ bone tumor that occurs along the spine, has led scientists on a fascinating journey of discoveries.	false
+bf0b52235975d8fe2c78ec095302e76088157a03	Aneurysmal bone cysts are @DISEASE$ @PHENOTYPICFEATURE$ that most commonly occur in the first two decades of life.	false
+d9b77d40415d5cd06e50ae1e42fe357c50440057	The young age at @PHENOTYPICFEATURE$ onset is suggestive of a predisposing condition such as @DISEASE$-M syndrome.	false
+8298ab29a10cf0edf3bad985b0d0093410340762	The median survival for patients whose @PHENOTYPICFEATURE$ were unresponsive to FAM was 6 months, and median survival was greater than or equal to 14 months in patients with stable disease or @DISEASE$-responsive tumors.	false
+317bc5048c19d5a17beb2f7b0cccca10c605fbb5	The median survival for patients whose tumors were unresponsive to FAM was 6 months, and median survival was greater than or equal to 14 months in patients with stable disease or @DISEASE$-responsive @PHENOTYPICFEATURE$.	false
+ef3f36ef30e1328961b78d30fc60d82ec2bffb4d	These results indicate that patients with advanced pulmonary adenocarcinoma can obtain objective @PHENOTYPICFEATURE$ regression with @DISEASE$ chemotherapy.	false
+eb1ff09efb5a091d08de20adbf26b067eebd066d	We investigated if the wash-out of 99mTc-MIBI from the tumor in fifteen female patients with breast cancer could be related with the chemosensitivity of anticancer agents; doxorubicin (DOX), epirubicin (@DISEASE$), pinorubicin (PINO), mitomycin (MMC), cisplatin (CDDP), and 5-fluorouracil (5-FU), in each @PHENOTYPICFEATURE$ tissues.	false
+365dc381dbf6efcf039f212733d0ce6e3c1d8aa8	We investigated if the wash-out of 99mTc-MIBI from the @PHENOTYPICFEATURE$ in fifteen female patients with breast cancer could be related with the chemosensitivity of anticancer agents; doxorubicin (DOX), epirubicin (@DISEASE$), pinorubicin (PINO), mitomycin (MMC), cisplatin (CDDP), and 5-fluorouracil (5-FU), in each tumor tissues.	false
+005cb088c06a3eec51b593a69f7bbb24530c9e1a	Uveitis associated with @DISEASE$ (JRA) is an important cause of @PHENOTYPICFEATURE$ in children.	false
+066350bcca91429530a16b576889a9c702b0995b	Childhood @PHENOTYPICFEATURE$ masquerading as @DISEASE$.	false
+3538e290b52e7d4272c20095a3b5a7640e0de3fb	Uveitis in @DISEASE$ (JIAU) is frequently associated with the development of complications and @PHENOTYPICFEATURE$.	false
+0fcb496d5418ccbb55af95f71afd050cbeb313cf	Sudden @PHENOTYPICFEATURE$ in a child with @DISEASE$-related uveitis.	false
+a06640526cd1de2bbfda9eb092529f7d93b18530	Pars plana lensectomy and vitrectomy for complicated @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3d45a719ac43e2285478242cebb4cc94f7d96e3c	Orofacial @PHENOTYPICFEATURE$ and dysfunction in children with @DISEASE$: a case-control study.	false
+c15ddb70671e53391435e7627d50e07f2367d00b	[Surgical treatment of complicated @PHENOTYPICFEATURE$ in @DISEASE$].	false
+0f862eeddab4498786c637f540376b5280a8ffb9	Uveitis in @DISEASE$ (JIA) is frequently associated with the development of complications and @PHENOTYPICFEATURE$.	false
+5bfdc1971420f022a68eeb0e7e35312efcfd53f7	The initial symptoms of childhood @PHENOTYPICFEATURE$ and lymphoma are often similar to those of @DISEASE$ (JIA).	false
+335ff2e028ddb4562d8768654c330016983f3695	Only few cases have been reported on treatment of ocular inflammatory disease mostly refractory scleritis, peripheral ulcerative @PHENOTYPICFEATURE$, uveitis in adulthood and in children with @DISEASE$.	false
+6bbfbe75d8c711bc39b7b475aa410682327637fe	In @DISEASE$ micrognathia and jaw @PHENOTYPICFEATURE$ may result in difficult or impossible tracheal intubation.	false
+943ba45d9ca6a506fdbf7ac191c0cb6a87bdcc4f	Patient with @DISEASE$ has problems such as difficulty of intubation owing to microstomia and jaw @PHENOTYPICFEATURE$, and is susceptible to malignant hyperthermia by using volatile inhalation anesthetics.	false
+533bebb3037fa1c0070986a3634556fa8e167db9	Dry mouth caused by @DISEASE$ can lead to dental erosion, @PHENOTYPICFEATURE$, oral infections, and discomfort.	false
+ebc5444601da3fdfa7a86650b9f3f46ec2a51ebe	Corneal ectasia is a common but often missed entity in cases of chronic @DISEASE$ that may be a cause for @PHENOTYPICFEATURE$ in these cases.	false
+f71a2e9d1307311adaa235508a8517771efbf67f	@PHENOTYPICFEATURE$ in @DISEASE$: a case study.	false
+886afff9ce6cc0929157b6182e7695ab9704cf6b	We report a case of 70-year-old woman with @DISEASE$ who underwent pulmonary resection of the normal side lung for @PHENOTYPICFEATURE$.	false
+b97e97fa5d8a98b7f4c751f04a8c242f43b75d16	Anderson's disease (@DISEASE$): a new mutation in the SARA2 gene associated with muscular and @PHENOTYPICFEATURE$.	false
+33d36fe56bdb0277078685a37bfe43b056d2712c	[The overweight, the @PHENOTYPICFEATURE$ and the glycemic control among diabetics of the provincial reference center of diabetes (@DISEASE$), Kenitra, Morocco].	false
+cf6f0cc27b246a6b2e97f0a335fb8e40ca7a4597	Long-term outcome measures included the following: immunosuppression, metabolic complications [@PHENOTYPICFEATURE$, arterial hypertension (AH), diabetes, dislypidemia], cardiovascular events (CVE), chronic renal dysfunction-@DISEASE$, and de novo tumors.	false
+abff685afc7a57c6a226621962130bdbfce2be0d	A systematic review of the literature on the treatment and prevention of obesity carried out by the NHS Centre for Reviews and Dissemination (@DISEASE$) demonstrates that the prevalence of excess weight and @PHENOTYPICFEATURE$ are on the increase.	false
+d634a093ad0a42fdac88f2c455fe1042e364647a	Interestingly, among the commonly used indices of @PHENOTYPICFEATURE$, only W/Ht and BMI were significantly associated with @DISEASE$ risk.	false
+0315253763c3f1ee1d4feb54e6d81288b2b13df5	The structure contains a fully folded C-terminal cysteine-rich domain (@DISEASE$), showing a distinct structural similarity to the resistin homotrimer, a small cytokine associated with @PHENOTYPICFEATURE$ and diabetes.	false
+1df767067bfb943cf2c017ca7b49de91f76539ed	To investigate the effect of pimobendan on clinical variables and the relationship between a change in heart size and the time to @PHENOTYPICFEATURE$ (CHF) or cardiac-related death (@DISEASE$) in dogs with MMVD and cardiomegaly.	false
+860a73ee68b0cc0e8a62b82c9e44534328a1b12a	During the follow-up period, 5 (16%) end-stage CRD deaths (4 RV @PHENOTYPICFEATURE$ and 1 respiratory infection) and 2 non-end-stage @DISEASE$ deaths occurred.	false
+41e1810ed299c290bf74e7e2785266f0a10717fb	During the follow-up period, 5 (16%) end-stage @DISEASE$ deaths (4 RV @PHENOTYPICFEATURE$ and 1 respiratory infection) and 2 non-end-stage CRD deaths occurred.	false
+d02156cf834aa7bec11648883a2d7fafa6d58f55	The non-peptide angiotensin II (AII) receptor antagonists are a new class of compounds that are continuing to be developed as therapeutic agents for the treatment of hypertension, @PHENOTYPICFEATURE$ (HF) and chronic renal disease (@DISEASE$).	false
+51879e804794ac91af4dba0b5864dd5780f310a3	The frequency of @DISEASE$ at dialysis start was 12% and was associated with various other comorbidities, including @PHENOTYPICFEATURE$ and tobacco use.	false
+869c0daeb9b209e8f4d7ce6df059ff240a0b4254	In @DISEASE$, serious @PHENOTYPICFEATURE$ can be observed in the patients and the respective knockout mouse models.	false
+9dfaefa214206e028ecf155801c8aa5264966bc5	A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant @DISEASE$ @PHENOTYPICFEATURE$.	false
+b9bb189b8e08f1c0ec1d72ba49eaba2089b76ab7	Significant bradycardia did not occur in any patients, and malignant @PHENOTYPICFEATURE$ @DISEASE$ occurred during median 7-year follow-up (except 1 hypokalemia-related ventricular fibrillation).	false
+3e335372702d43ae735fd293a5b2ae111c0437b2	Overall, 60% of T1DM patients and 46% of T2DM patients rarely/@DISEASE$ discuss @PHENOTYPICFEATURE$ with their GP/specialist.	false
+86eed2a15e7aa6fb28b9e7ee93d165c1558d6306	During the ICU stay, @PHENOTYPICFEATURE$ @DISEASE$ occurred, with the average blood glucose level being 144?mg/dL.	false
+69d17f81ae4bdad380b3b4f8d7d1eed68ad9d066	There were positive findings in 56 cases: phenylketonuria (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), @DISEASE$ A (1), hyperglycinemia with hyperglycinuria (1), renal @PHENOTYPICFEATURE$ (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type.	false
+6e891e29628384727e15bb1085c89f5a8b500cbe	Four forms can be distinguished on the basis of their genetic aetiology: anomalies in the LIS1 gene (isolated lissencephaly and @DISEASE$), anomalies in the TUBA3 and DCX genes, and lissencephalies caused by mutations in the ARX gene (XLAG syndrome, X-linked lissencephaly with @PHENOTYPICFEATURE$).	false
+4eb049895fbdd535e1f92915d326a40f60b31573	Other patients have @DISEASE$ (MDS), which includes lissencephaly, multiple dysmorphic features, @PHENOTYPICFEATURE$ and shortened life expectancy.	false
+6b5adc6e0d06ee4af73c8745d48f0431721b2535	Other patients have Miller-Dieker syndrome (@DISEASE$), which includes lissencephaly, multiple dysmorphic features, @PHENOTYPICFEATURE$ and shortened life expectancy.	false
+79932b922aa08cb4635ad10a00776d301f681226	We report a frontal intraparenchymal @DISEASE$ in a pediatric patient with a history of @PHENOTYPICFEATURE$.	false
+b23bde0bd7d6fe4067ba4b147b13cf434d4b5048	A rare case of benign pelvic @DISEASE$ with bladder infiltration and @PHENOTYPICFEATURE$ is presented.	false
+bac53b79dc001ae3b998a57c8af8899848ab452d	Fluorescein-guided excision of a pediatric intraparenchymal @DISEASE$ presenting with @PHENOTYPICFEATURE$ and neurogenic pulmonary edema.	false
+61c765a0caa5920a97b2304aada38c70400916a7	We report a case of @DISEASE$ occurring in an intra-axial location causing @PHENOTYPICFEATURE$.	false
+41d3a0599d10bb91b81af450db55fb3e9237f796	Young age, no known history of neurofibromatosis, and @PHENOTYPICFEATURE$ as initial symptom have been reported to be associated with intraparenchymal @DISEASE$.	false
+e27b4f57567a16060b246148a8454808df4fe07b	In addition to producing disturbances of fifth nerve sensory and motor function, these tumors are often associated with other symptoms, such as occlusion of the eustachian tube (sensation of fullness and conductive hearing loss), otalgia, exophthalmos, paralysis of the third, fourth, and sixth cranial nerves, and signs of posterior fossa involvement (sensorineural hearing loss, tinnitus, @PHENOTYPICFEATURE$, and involvement of cranial nerves VII and IX through XI), any of which may be the initial clinical manifestation of the @DISEASE$.	false
+af910720bf26838aad24e35c5c02215a21b08c32	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and @PHENOTYPICFEATURE$.	false
+f9fc9668b3d14c8a8b226a6428be2de6157b55e6	Verloes-David-Pfeiffer @DISEASE$ is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, @PHENOTYPICFEATURE$, CHD, and ureteral anomalies.	false
+1b0bec28e0eabff031e0451e933d6bd4d8e78ea5	Nevertheless, potentially meaningful changes have already been observed in corneal dystrophies (Meesmann's dystrophy, posterior polymorphous dystrophy and iridocorneal endothelial syndrome), degenerations (pterygium) and inflammatory diseases (Pseudomonas keratitis), in opacification of the lens (anterior subcapsular and secondary cataract), in diseases characterized by proliferation of the retinal pigment epithelium (macular degeneration and @DISEASE$), and in intraocular @PHENOTYPICFEATURE$ (uveal melanoma).	false
+d4fd7c753469b72671b09a82ca9472fe50ab0a80	Patients with COL9A1-associated @DISEASE$ (STL) present hearing loss (HL), ophthalmic manifestations and @PHENOTYPICFEATURE$.	false
+b300f56e0458215f6913d2f5c51db5109bbed518	@DISEASE$ is an autosomal dominant, genetic connective tissue disorder characterized by ocular, orofacial, auditory, and @PHENOTYPICFEATURE$.	false
+f0850458ac71262016ab33f348641adc8fe57dcb	@DISEASE$ (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and @PHENOTYPICFEATURE$.	false
+6513620e3cabed1eb295d5526ed57163f76249dc	Mutation of COL2A1 has been confirmed as the causative gene for Stickler syndrome type I CONCLUSION: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (@DISEASE$ type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular @PHENOTYPICFEATURE$.	false
+d9322805ae210f42b19efff13513bbc0210a591d	Mutation of COL2A1 has been confirmed as the causative gene for @DISEASE$ type I CONCLUSION: We concluded that conventional radiographs and the molecular determination of a COL2A1 in patients with (Stickler syndrome type I) are insufficient tools to explain the reasons behind the tremendous magnitude of axial and appendicular @PHENOTYPICFEATURE$.	false
+7e5349a451a1981b57c7bc96978ced88b103b31f	@DISEASE$ is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and @PHENOTYPICFEATURE$.	false
+8294e50df680ac9943f22a081f87d748d67d78e5	The @DISEASE$ is an autosomal dominant genetic disorder, characterised by ocular, orofacial and @PHENOTYPICFEATURE$ and/or auditory loss.	false
+7f5b8f32a5e25fb9ab48dcebfca4cde39f57e83f	Valgus SCFE may be associated with obesity, coxa valga, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d4a32c13c07f0b04319da53029b5e36dbf36e894	Moreover, recognition of @DISEASE$ allows accurate prognosis for @PHENOTYPICFEATURE$ and anticipation of potential surgical complications.	false
+3472c0af268ab01f3d3ae1631636379853c22baf	The @DISEASE$ is a dominantly inherited, connective tissue disorder associated with retinal detachments, joint and @PHENOTYPICFEATURE$, and characteristic facies.	false
+e260000326b60586d6694a3544c7420ffe364950	The genetic syndrome that most frequently co-occurs is @DISEASE$ characterized by @PHENOTYPICFEATURE$, joint pain, congenital myopia and retinal detachment.	false
+fd3a7022875b2344b92d82f622f867f9a7853401	Intracranial calcification, @PHENOTYPICFEATURE$, and intrauterine growth restriction: a telltale sign of @DISEASE$.	false
+71ec8a0cd294f6670d0a1e37c6344a8fd32250d5	Intracranial calcification, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the @DISEASE$, can also be seen in a rare disorder named Raine syndrome.	false
+7440bba484bc09fe3dd878bf2668669269d6c417	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, @PHENOTYPICFEATURE$ and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+e7d0cc702ef132b2b16d3edcb30098e7c65a7ce2	Both children have @DISEASE$, @PHENOTYPICFEATURE$, and mild learning disability.	false
+9a38ef4bc5df40deadf3fc5399f93050b043419d	The patient showed @PHENOTYPICFEATURE$, @DISEASE$ and congenital cardiac defect.	false
+d2a907dc8d2fb235e50171df73b274897a239209	Syndrome identification case report 100: @PHENOTYPICFEATURE$, @DISEASE$, short stature, and mental retardation.	false
+e658f1c4be84779c8e0b46180d13c71bbec1119e	Syndrome identification case report 100: unusual facies, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+987d7cb2b4153db414c0952656feb5f598b17327	Observed malformations included, but were not limited to @DISEASE$,micrognathia, anasarca, @PHENOTYPICFEATURE$, and tial anomalies.	false
+6509a33e13bc2b8b98ce05abb9981a04b2374eab	Other features include @PHENOTYPICFEATURE$, @DISEASE$, talipes, and abducted thumbs and toes.	false
+1a0297ae289693dd2c2be625286cf44008ea5612	We used whole-exome sequencing to study three individuals with a distinct condition characterized by @PHENOTYPICFEATURE$, chondrodysplasia with brachydactyly, congenital joint dislocations, @DISEASE$, and facial dysmorphism.	false
+c3dbcea9b80f804ac47246e4b59a5e801f16f22c	We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1d60e31a079fa350bcd175c35c3a0520a65828fa	Dermoid cysts, hypothyroidism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4075b373c2c53b274d24d5a5164675d6dc5b47e1	A 10-year-old boy presented with @DISEASE$, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, @PHENOTYPICFEATURE$, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability.	false
+022ea853b9cd43185e2dd47eb8855e06d46a25d1	A 10-year-old boy presented with @DISEASE$, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, @PHENOTYPICFEATURE$, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability.	false
+8946feae5ebad4d59bd742c01fc2389ee00d09ea	A 10-year-old boy presented with @DISEASE$, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, @PHENOTYPICFEATURE$, obesity, hypothyroidism, microcephaly and mild intellectual disability.	false
+ab1b995747b0fd85c723843eb14b54ac2eb6ef21	@DISEASE$ repair was delayed by 2 months in patients with a @PHENOTYPICFEATURE$ (P = .001).	false
+3dfb713646abe2f426e1a0461739c3bbc8dbdad6	@PHENOTYPICFEATURE$ and delayed development of the second premolars in @DISEASE$ children.	false
+fbfa771c8fc206b15ddffa40c8290d8dc2fbf835	After having excluded spurious thrombocytosis (e.?g., due to microspherocytes, schistocytes, cryoglobulins, or bacteria), the differential diagnosis of true thrombocytosis encompasses secondary causes (as diverse as inflammation, infection, malignancy, iron deficiency, or asplenia), primary hereditary (rare forms of @DISEASE$) and primary acquired entities (either in the context of a myelodysplastic syndrome or more frequently a myeloproliferative @PHENOTYPICFEATURE$).	false
+f0a2f81e47a31d7071f5c97710a9cc1eb97ae3c9	The etiology of thrombocytosis can be categorized by those related to reactive processes; acquired platelet disorders (ie, myeloproliferative @PHENOTYPICFEATURE$, hematologic malignancies); or inherited platelet disorders (ie, @DISEASE$).	false
+0cfbe2561e1a5abc40ab4699935cc24be3d74334	Case 1 previously had received a diagnosis of @DISEASE$ type I. On examination, hyperpigmentation, @PHENOTYPICFEATURE$, and swelling in the right supraorbital region were noted.	false
+13545473ea885c2f33970b7ea18af9586aae6ceb	microdeletion probably underlies the @PHENOTYPICFEATURE$ and @DISEASE$ in the patient.	false
+10c71888e787e998d6a79ddd74b007b0c7ebf69a	It may be a pure spinal hamartoma, or sometimes it may be associated with either @DISEASE$ type I or @PHENOTYPICFEATURE$.	false
+b38a10762f02a9d018f02571884c9041ad60211f	"Caf?-au-lait" macules (CALMs) and overall @PHENOTYPICFEATURE$ are early hallmarks of @DISEASE$ (NF1).	false
+9c707fb0529f0e74ab74875b6f191b133e066d24	@DISEASE$ is an autosomal dominant disease that is characterized by @PHENOTYPICFEATURE$ and multiple neurofibromas and often accompanied by localized peripheral and central neural tumors.	false
+6fad16beee194403c1314cab54278d3c5911ff79	Complex congenital heart disease, @PHENOTYPICFEATURE$, pheochromocytoma and @DISEASE$ type I in a girl born from consanguineous parents.	false
+4d6ad44b7d32d03229e20062171862dee299761f	Lobar/segmental intrahepatic involvement can be seen in @DISEASE$, cavernomatous transformation, fatty infiltration and periportal @PHENOTYPICFEATURE$.	false
+8a46a3ec0c62aa1c833b5ca56fbdb5b0a67dedbd	Mutations in neurofibromin (NF1) cause the dominant genetic disorder @DISEASE$. Neurofibromatosis is characterized by Schwann cell-based tumors and @PHENOTYPICFEATURE$, resulting from both haploinsufficiency and loss of heterozygosity.	false
+ccaa029dd4a6bfec700f3fc573f6d48383401da6	Mutations in neurofibromin (NF1) cause the dominant genetic disorder neurofibromatosis type 1. @DISEASE$ is characterized by Schwann cell-based tumors and @PHENOTYPICFEATURE$, resulting from both haploinsufficiency and loss of heterozygosity.	false
+5a70051d81a1bdf66c54c64f151b925612b26796	[Hypopituitarism, @DISEASE$ (incomplete form) and @PHENOTYPICFEATURE$].	false
+5bb80742b43a6122fa6d8cb33a7b462af9acb751	Congenital or developmental cervical kyphosis is a serious orthopaedic abnormality, which is associated with several syndromic associations such as Larsen syndrome, diastrophic dysplasia, chondrodysplasia punctata, @PHENOTYPICFEATURE$ dysplasia, and @DISEASE$.	false
+ecbd8827cdbf88aac653189b6ee7279c8b4878f4	We report a rare case of mirror syndrome with maternal @PHENOTYPICFEATURE$ associated with fetal hydrops due to @DISEASE$.	false
+e8a102bc1e638e753ea0fa02d379ca0dd94edcf0	In the majority of AT/RT, LOH occurs at the genetic locus SNF5 (Ini1/BAF47/Smarcb1), which functions as a subunit of the SWI/SNF chromatin-remodeling complex and a tumor suppressor in familial and @PHENOTYPICFEATURE$ @DISEASE$.	false
+4b2c9ca083c0a7958e154b736572ce48add28b58	Other clinical features were mild @PHENOTYPICFEATURE$, dysarthria, nystagmus, optic neuropathy, @DISEASE$, and upper motor neuron signs.	false
+9dd841f5aa2a27c4822ad0f594f3be30cf59a914	Kallmann's syndrome (KS) refers to the association of hypogonadic @PHENOTYPICFEATURE$ and @DISEASE$ or hyposmia.	false
+21a675bdc431f9736365f3e071d35066b06dad8f	Kallmann's syndrome (KS) refers to the association of @PHENOTYPICFEATURE$ hypogonadism and @DISEASE$ or hyposmia.	false
+8cf48ef0780118e2f3656e56ae304eea439df8c4	Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic @PHENOTYPICFEATURE$ and @DISEASE$/hyposmia, a variable degree of intellectual disability and several somatic anomalies.	false
+639ff7eafbab4ef94b4065938b8052b5973bd7b8	Among 9 women with hypogonadotropic @DISEASE$ with advanced reproductive technology-induced pregnancies, 2 experienced @PHENOTYPICFEATURE$, one from "food poisoning."	false
+36442616b6cd2e63bd8ac05addb1e83d09ebce9a	@PHENOTYPICFEATURE$ and life-long @DISEASE$.	false
+e87a1d4206dd7c955c57d6de30d4c8b90fc5d21f	Magnetic resonance imaging of the brain in patients with @DISEASE$ and hypothalamic @PHENOTYPICFEATURE$ (Kallmann's syndrome).	false
+40fdefaaef635607622874c40c706a6dc9e153e3	This disorder is characterized by coexisting hypothalamic @PHENOTYPICFEATURE$ and hyposmia or @DISEASE$ due to hypothalamic and olfactory center hypoplasia.	false
+b18f6ff115d8ae15f1419814f7ba8ed57ad781e7	A 7-year-old male presented with a history of a single episode of @PHENOTYPICFEATURE$ and @DISEASE$ of 1 year's duration.	false
+c8ec07cc92bb7d4da883d7dfcd3b90bed643ed7a	Risk of malnutrition is further complicated by @DISEASE$, @PHENOTYPICFEATURE$, constipation, and drug-nutrient interactions.	false
+67d830d94ea9858274c2a0b0477e48a5c66e5af5	We favor the hypothesis of a single autosomal dominant gene with variable expression of the @PHENOTYPICFEATURE$ and @DISEASE$, although there are alternative explanations for the combination.	false
+f6510d20380f6ed9a3ed86b6ced00fa3cc9af7af	It was marked by scleroderma, @DISEASE$, polyneuropathy, @PHENOTYPICFEATURE$, weight loss, and functional limitations.	false
+405764388db4d45fd7cc1200933bb9cd7c16886e	This paper reported the results of the clinical observation and long-term follow-up of twenty-five cases of lymphoepithelial lesion in salivary glands.It evaluated the name and character of this disease and investigated correlation between Mikulicz syndrome and @DISEASE$.Lymphoepithelial lesion were a course of the benign disease,and had character similar as tumors.It was liable to be diagnosed erroneously and should be treated according to principle of the @PHENOTYPICFEATURE$ therapy in the salivary gland.	false
+4e09e135835525689153f73bc327907a305cadc8	They subsequently developed peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma-like changes, Raynaud phenomenon, pulmonary hypertension, @DISEASE$, and liver disease.	false
+50d69ce38fb4c1bef87f42d39377b58d1dce6726	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, peripheral nerve damage, sclerodermiform skin lesions, @DISEASE$, alopecia and @PHENOTYPICFEATURE$, among other findings.	false
+9b15f4aa5d155bb3f2783a0752913a11aa9a7e07	This large @PHENOTYPICFEATURE$ was associated with parotid swelling and a buccal and ocular @DISEASE$.	false
+2cb4956c73249bd2a55eaf660d03fd275886f4bc	We report a case of rheumatoid arthritis (RA) with autoimmune hepatitis (AIH) and @DISEASE$ (SjS) that was treated with the @PHENOTYPICFEATURE$ necrosis factor (TNF) inhibitor, etanercept (ETN).	false
+4204ef265ac4a5fe85282d0e9fab22658963d72a	ELISA method was used to detect the serum level of GPI, and according to clinical features and laboratory test, all the patients including 525 RA patients, the other patients including osteoarthritis (OA), 134 cases of seronegative spine joint disease (SpA), 104 cases of systemic lupus erythematosus (SLE), 31 cases of primary @DISEASE$ (pSS), 24 cases of gout arthritis (GA), 22 cases of other connective tissue diseases (including polymyalgia rheumatica, dermatomyositis, systemic sclerosis, adult Still disease) and 46 cases of other diseases (including 165 cases of osteoporosis, avascular necrosis of the femoral head, traumatic osteomyelitis, bone and joint disease, juvenile rheumatoid arthritis, @PHENOTYPICFEATURE$).	false
+aafcaeea5d6932ec6a7d8dcee17883834576edf9	as lymphoma and 1.7% as @DISEASE$, oxyphil and Warthins @PHENOTYPICFEATURE$ respectively.	false
+f3a0c6dcc68c8c8241dcc151eae8d6b331114fb8	Other rheumatologic manifestations are common in both, including arthralgias, @DISEASE$, scleroderma-like skin changes, carpal tunnel syndrome, and @PHENOTYPICFEATURE$.	false
+84b51699df279e5019e43018b3ac55ff0f8f4911	Micro-circulation of conjunctiva was investigated in 36 patients with high altitude @PHENOTYPICFEATURE$ (HAPE) and 21 healthy subjects who arrived recently in high land and were the controls, and plasma angiotensin II (AT II) and aldosterone (@DISEASE$) were determined in 16 patients with HAPE and in the control group.	false
+075ee8cf2048be648f699078987d0059fc9c3563	Symptomatological links between @DISEASE$ and familial spasmodic @PHENOTYPICFEATURE$, the mode of genetic transmission of the disease, the contribution of neuromuscular biopsy to the diagnosis and the therapeutic prospects of a diet low in long-chain fatty acids are discussed.	false
+9db5867f092fb0caab5a8e6a405dd21afac5f439	The authors discuss the relationship between @DISEASE$ and familial spasmodic @PHENOTYPICFEATURE$, the mode of genetic transmission of the disease and the diagnostic value of neuromuscular biopsy and measurement of serum long chain fatty acid levels.	false
+ee92bff16863524a9af3f41c3424bbfd2a4977bb	Thirty-five patients with refractory CHF and New York Heart Association functional class IV without renal dysfunction, hypotension and @PHENOTYPICFEATURE$, whose plasma aldosterone (@DISEASE$) level in 88.6% of them was above normal value, were randomly assigned to group A (n = 16, captopril alone) and B (n = 19, captopril plus spironolactone) for a 4-week treatment.	false
+92e14eac83b523ba2f73a38b5d1a18c548ebcf13	To investigate the prevalence and clinical significance of autoimmune liver disease (@DISEASE$)-related autoantibodies in patients with @PHENOTYPICFEATURE$ (BA).	false
+7c38facbbf83742c01b5bcd26bf2b6f1d01b31cc	However, SPRY2 was not dysregulated in normal-hearing humans homozygous for both the GAB1 @DISEASE$ deafness variant and the dominant METTL13 @PHENOTYPICFEATURE$ suppressor, indicating a plausible mechanism of suppression.	false
+76619f4fff7235c5a80222b362bb448959747eb9	However, SPRY2 was not dysregulated in normal-hearing humans homozygous for both the GAB1 @DISEASE$ @PHENOTYPICFEATURE$ variant and the dominant METTL13 deafness suppressor, indicating a plausible mechanism of suppression.	false
+4ffb0036966594aa6475e708ed8055657114cc27	Among the symptomatic group the main diagnostic specific features are: (1) opportunistic infection, e.g. with @DISEASE$; (2) interstitial pneumonitis with respiratory distress resulting from lymphocytic interstitial pneumonitis; (3) microcephaly and other @PHENOTYPICFEATURE$; (4) recurrent bacterial infections.(ABSTRACT	false
+4c7cea55f4df807a4e2b4f23beb6445946dbbf84	@DISEASE$ is a rare disorder manifest by early epilepsy, @PHENOTYPICFEATURE$ and hemiplegia.	false
+9e6ed63f108f0af98cb0e36ec01331e7287ec270	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, @PHENOTYPICFEATURE$, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+527ba620e81d4500a7e413e3a5b587d7f0a70640	Lipid mobilizing substances (@DISEASE$) are present in the hypothalamus and pituitary of mammals and probably are involved in the central neural control of @PHENOTYPICFEATURE$.	false
+f6b36f07019ce5e2ae567ebc39ce3a06c77f91cd	We report a sporadic case of Lenz-Majewski syndrome (@DISEASE$) with newly recognized manifestations including facial palsy, cleft palate and @PHENOTYPICFEATURE$ developing later in infancy.	false
+9305bf74b96a850ab9005015f075deae1b73eed9	Facial features of @DISEASE$ include @PHENOTYPICFEATURE$ and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance.	false
+e6eaed80659c6fa816b028231b410519eabdd0c2	Facial features of @DISEASE$ include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, @PHENOTYPICFEATURE$, high and narrow palate, low-set ears and a hypotonic appearance.	false
+fe8e7eea558f618e1a4edcd5988c18e530a3442c	SIEDP-2006 references are presented both as centiles and as @DISEASE$ curves for the calculation of SD scores, and include the extra-centiles for overweight and @PHENOTYPICFEATURE$.	false
+bcfde3705f46a1b058aa39f5c3937db2ac69ce66	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (@DISEASE$) have a similar phenotype, which includes retinal dystrophy, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+436f2471905ae5fe2386fbc8b23da083ad427d7f	Adreno-@DISEASE$ with @PHENOTYPICFEATURE$.	false
+984e416fefc55b254cfa0c7adfe9f6031be9a25f	Pathological findings were compatible with adreno-@DISEASE$, but also showed @PHENOTYPICFEATURE$ and diffuse organ hypoplasia.	false
+eedf518c84bf921e500a1f8616bec5b5bc6e1f5f	They both presented with similar clinical symptoms and MRI findings presenting as 4H @DISEASE$, and the association of polymicrogyria and @PHENOTYPICFEATURE$.	false
+15055ebde0bae0308f337504505eff78eeea4cd6	Cerebral damage lesion and obvious @PHENOTYPICFEATURE$ could be the main etiological factors of @DISEASE$ complicated with epilepsy, combined copper repellent therapy of integrative Chinese and Western medicine, and antiepileptics produced good clinical effect on the patients.	false
+35ee32b105979ac2f15627900e60c9c1a1e23a8e	The authors present the temporal bone histopathology of two siblings (4 months old and 6 months old at autopsy) with Canavan's disease, an autosomal recessive @DISEASE$ that is variably associated with @PHENOTYPICFEATURE$.	false
+8eb78d1c77b1ce58b1b4d08079235fb8a76dd505	The patient presented with an early hearing loss, bilateral @PHENOTYPICFEATURE$, and @DISEASE$ on magnetic resonance (MR) images.	false
+abf86269ceadb14c4bd6f4afde2624c2c4e8524e	Subsequently these patients experienced @PHENOTYPICFEATURE$, resulting in complete hearing loss by the age of 12 years, and exhibited @DISEASE$ on brain MRI.	false
+107ae6457134980809082d614bb585a4be3f5b4e	The investigation of C26:0-lysoPC should be included in the diagnostic work-up in patients with @PHENOTYPICFEATURE$, hearing loss, and @DISEASE$ on MR images suspected to suffer from ZSD.	false
+ddc062e85d26bfe1c3d9b32b9e1eb97c1c3fbe14	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral @DISEASE$, microcephaly, progressive pigmentary retinopathy, @PHENOTYPICFEATURE$ photosensitivity and possibly orofacial and dental anomalies.	false
+e0a8f45ba77336701703f284d686ee29f9968923	Aicardi-Gouti?res syndrome is a rare progressive encephalopathy characterized by a typical clinical picture, bilateral basal ganglia calcifications, @DISEASE$ and @PHENOTYPICFEATURE$, lymphocytosis, and elevated interferon-alpha in the cerebrospinal fluid.	false
+4b51557079c02de50d0d17f087ba8ad125e4cd6a	To report the case of a newborn with recurrent episodes of @PHENOTYPICFEATURE$, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring @DISEASE$.	false
+f1279c5d26bdc4b55fcf5760266ac9b501e956be	Hematologic consequences of @DISEASE$ coma include mild leukopenia and @PHENOTYPICFEATURE$, rarely pancytopenia.	false
+88225e50da8e8f024b7af055865c1ba0001d05cc	This case suggests that the possibility of leptomeningeal dissemination and @PHENOTYPICFEATURE$ should be considered even after RT and chemotherapy for @DISEASE$.	false
+bc16cd8bb9eaeaa68152b108fabaec892ac1ae5a	Knockdown of Nup107 in @DISEASE$ cells caused cell death, rather than @PHENOTYPICFEATURE$, indicating a greater sensitivity to Nup107 depletion in cancer cells than in normal cells.	false
+1d351670b3a79574d17cfcd524b081f77994bcac	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cardiomyopathy, and a @DISEASE$.	false
+746b2ca83d2b1f1570e8d9a667fb3f992b42cda1	The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, callosal agenesis, @PHENOTYPICFEATURE$, cardiomyopathy, hypopigmentation, and @DISEASE$.	false
+c4e6f49e3e0738bdb042ed6b92a0c9e7a3684d09	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+b90c7e51bc94adc7ffe08e86a5a792a4623d9111	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, psychomotor delay, and hypopigmentation.	false
+5fee06908f22f9b5dfbf4dad01f3521305052f5a	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, cardiomyopathy, @DISEASE$, developmental delay, and hypopigmentation.	false
+1621032e7d2317ebbc8674ad0e42c0f37a6ac9d0	We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral @PHENOTYPICFEATURE$, cleft lip and palate, and @DISEASE$.	false
+a120c5cecfdc734109562cbbdddf0073b089d22e	In this concise study, we report a novel missense mutation within the SLC12A1 gene, causing a severe form of @DISEASE$ type I, the first to be described in Israeli Bedouins, with unusual clinical features of hypernatremia caused by nephrogenic diabetes insipidus and putatively related @PHENOTYPICFEATURE$ with upper airway abnormalities .	false
+49d166675381e786c7d707492c875b2e2bc0a478	Individual-level data on @PHENOTYPICFEATURE$, musculoskeletal disorders, and various socio-demographic characteristics were extracted from the Australian Bureau of Statistics (@DISEASE$) 1995 National Health Survey (NHS).	false
+e3e341633ebec358b318b45bd78d1f50e22e42ac	In the current paper, we first introduce the research themes of the attention, behaviour and sleep (@DISEASE$) laboratory, namely, sleep and ADHD, sleep and @PHENOTYPICFEATURE$, and sleep and academic performance.	false
+70a8f504e2a7aec4b8d33fd35e70ecf9de38ad0f	We are reporting a female term appropriate for gestational age newborn with clinical features of frontal bossing, brachycephaly, proptosis, synostosis of radioulnar joints, hemangioma over nose and philtrum, @PHENOTYPICFEATURE$ suggestive of @DISEASE$.	false
+7c92396804fcead9cecbd8435a389ce6627b5878	This report highlights the successful utilization of DO for the treatment of @PHENOTYPICFEATURE$ and airway compromise in a patient with @DISEASE$.	false
+05b9c9950475d8fa5c71265552da116d5725ebd8	Herein, we describe the use of neonatal DO for @PHENOTYPICFEATURE$ in the setting of amniotic band sequence (@DISEASE$).	false
+27e4c6aceab9db7614e673fa672fd29ecbf7ccea	Extensive craniofacial involvement including @PHENOTYPICFEATURE$, encephalocele, and multiple facial clefts in the affected fetus, combined with an erroneous ultrasound diagnosis of @DISEASE$ in the unaffected twin, created an extremely difficult management and counseling situation.	false
+655aa42ebf92827bb103d1986d6905b475b0acb8	@PHENOTYPICFEATURE$ and @DISEASE$ risk.	false
+65d64cd102bd537a0cbff6e4e24fab6a9edc145d	Laparoscopic Liver Resection of Right Posterior Segments for @DISEASE$ on @PHENOTYPICFEATURE$.	false
+039f855eebd82875f6dd194e52fb238e41b4578f	Allograft dysfunction, de novo @PHENOTYPICFEATURE$, or @DISEASE$ did not occur during follow-up.	false
+fa77d00d6776a1b979bd139127610d8c8c068a92	The triad of lichen planus, thymoma and liver @PHENOTYPICFEATURE$-@DISEASE$.	false
+b0973e10e1ae8b1d76f1706c5d187ed5e0c5a371	Sarcopenia can affect the prognosis of patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+86bbb512654bda4f6ce04672822f4b374cb416ba	Intrahepatic thrombus is usually associated with either @PHENOTYPICFEATURE$ or @DISEASE$ (HCC).	false
+56bfb2a066c98041cca9a20e455f48cff14e10dc	Clinical features looks like liver @PHENOTYPICFEATURE$ or @DISEASE$.	false
+3c0ed58bb7aa776cb0b91b0a44336c9daa13a0e2	Hepatitis-associated antigen, @PHENOTYPICFEATURE$ and @DISEASE$ in Rhodesia.	false
+913ace6d8ac137728d941b2a6da30b58caecfc1c	No virological breakthrough, @PHENOTYPICFEATURE$ or @DISEASE$ occurred.	false
+484fd78da012fc4405967200f7b8796f47bb5f75	No patient had underlying @PHENOTYPICFEATURE$ or @DISEASE$.	false
+519079844f15dcfbcf6c663297f14d8ea4352fe4	@DISEASE$: an overlooked and misdiagnosed @PHENOTYPICFEATURE$ type.	false
+27d9c8bb24d221a69d7ed1ba3260d7cf2b53ddb8	We report here the case of a young girl treated with intravenous ceftriaxone who subsequently developed @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5439e64a11ee651de828e5a5c6f24488554df092	Conventional T2-weighted MR images were evaluated for surface area of the foramen magnum and jugular foramina, @PHENOTYPICFEATURE$, and emissary veins enlargement in 16 @DISEASE$ patients and 16 age-matched controls.	false
+2d8ef2e7f861e6349e1030f952337cda448da284	This girl has the multiple congenital anomalies that defines the @DISEASE$ (aniridia, external genital hypoplasia and @PHENOTYPICFEATURE$).	false
+6f319ca9b48690637a8ed96b6e67850f4c9ed273	These different syndromes are to be detected rapidly at risk of nephroblastoma in @DISEASE$ (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) or @PHENOTYPICFEATURE$ in Gillespie syndrome.	false
+b1feeb36b8db6d02e62121bd9ac061541a1d78a1	@DISEASE$ (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, @PHENOTYPICFEATURE$ and a dysmorphic face.	false
+773b8eb8edefc99aacc8013601fcd2ccfd1ad97c	Common side effects include headache, @PHENOTYPICFEATURE$, dry skin, and bone pain, and approximately 25% of treated patients experience @DISEASE$, which includes fever, dyspnea, weight gain, pulmonary infiltrates, and pleural or pericardial effusions.	false
+6312f0884cc397fc76d0ce25b2c5fa288c5161cb	Common side effects include headache, fever, dry skin, and bone pain, and approximately 25% of treated patients experience @DISEASE$, which includes @PHENOTYPICFEATURE$, dyspnea, weight gain, pulmonary infiltrates, and pleural or pericardial effusions.	false
+11a6f3901584f4d22c62a0fa762dceac07375bff	@DISEASE$ with acute @PHENOTYPICFEATURE$.	false
+3ebe3a79ee9a3edb186d6422edab40ee07c9eec6	The association between @DISEASE$ and @PHENOTYPICFEATURE$ has been described previously but only as a late complication and only with sensory axonal polyneuropathy.	false
+0efe8e2b50c965846a2d8f67d72af1f38fdeacb3	Differential diagnoses of aquadynia are aquagenic pruritus and urticaria, hysteria or simulation, Fabry's disease, erythermalgia, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+345492eb41b73029231625c6baf33f6ebc4c2be1	We describe the first case of granulomatous dermatitis associated with @DISEASE$, presenting as large @PHENOTYPICFEATURE$ nodules mimicking panniculitis.	false
+673f2ca9e18297444bd95c9b6e49a3e1dcebe438	Nerve conduction studies were performed on 26 patients with @DISEASE$, 11 of whom had sensory symptoms in the extremities and 3 of whom had clinical signs of @PHENOTYPICFEATURE$.	false
+14c9cf98060e550a93f1046d17154398edb3e1f1	There is an association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+50c35fa06b98c8cfe4becf146a20a74bf0c557a5	The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (@PHENOTYPICFEATURE$, deafness, and absence of enteric ganglia) and @DISEASE$ (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.	false
+c48ce41a6b298c86ce30b7b0565306dfc1662d57	Other common organ combinations in multiorgan transplantation include kidney-pancreas, which is mostly used for patients with @PHENOTYPICFEATURE$ and uncontrolled diabetes, and heart-lung for patients with congenital heart disease and @DISEASE$.	false
+ceed8719591614be6dfe23fe76fee4ad0887c4ca	We present cases of both types of @DISEASE$, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, @PHENOTYPICFEATURE$, sensorineural hearing loss, and bulbar dysfunction.	false
+348b96f06b8e313c12b1ed5112599bf648c4fdac	@DISEASE$ represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, @PHENOTYPICFEATURE$ and respiratory problems leading to ventilator-dependence.	false
+fec783063aa2bab6e857d8e6799bc26f0d498f6b	gene consistent with a diagnosis of @DISEASE$ despite the absence of common symptoms including motor neuropathy, bulbar palsy, @PHENOTYPICFEATURE$, and sensorineural hearing loss.	false
+b1fa8cebb26debd132e824989ea8c016dbb18c70	@DISEASE$ is characterized by a progressive sensorimotor neuropathy, @PHENOTYPICFEATURE$, hearing loss, bulbar dysfunction, and respiratory insufficiency.	false
+d451d288a8ac9b25367fc023ccf963fa6a7fe396	@DISEASE$ patients present with a progressive @PHENOTYPICFEATURE$, dysarthria, cognitive impairment and retinitis pigmentosa.	false
+d026d9d44a2af2e5b324cb71c53417f555110434	@DISEASE$ (HSD) is a @PHENOTYPICFEATURE$ with neuropathology including abnormal iron storage, disordered myelination, and loss of brain substance.	false
+1381b309239adc9f4eaa79679f83bfce688cd424	The condition originally called @DISEASE$ is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a @PHENOTYPICFEATURE$.	false
+7f5e72a71a59842d15e670dc9c6f65d34cb5cf90	We asked whether a @PHENOTYPICFEATURE$ could be elicited by deprivation of pantothenic acid (PA; vitamin B5), the substrate for the enzyme pantothenate kinase 2 (PANK2), which is deficient in the inherited neurological disorder PKAN (pantothenate kinase-associated neurodegeneration formerly called @DISEASE$).	false
+8e66f82ee3a30641aebc6c012dfceddda3983c41	We asked whether a @PHENOTYPICFEATURE$ could be elicited by deprivation of pantothenic acid (PA; vitamin B5), the substrate for the enzyme pantothenate kinase 2 (PANK2), which is deficient in the inherited neurological disorder @DISEASE$ (pantothenate kinase-associated neurodegeneration formerly called Hallervorden-Spatz syndrome).	false
+5d21b517cdfcdc5c510214a34cdb0441c2d20171	Due to limited phenotype-genotype correlation among patients with @PHENOTYPICFEATURE$, if "eye-of-the-tiger" brain MRI is present, PANK2 mutations investigation are needed to confirm @DISEASE$ disease.	false
+6e8ad824803fd131f00d02a8a3b2ecfcdea79b50	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like spinocerebellar degenerative syndromes, @DISEASE$, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, @PHENOTYPICFEATURE$, sarcoidosis, and other CNS inflammatory disorders.	false
+53248aedcef58dd9db604fef362bf7b240aa69a5	We set up a denaturing high-performance liquid chromatography (DHPLC)-based screening for FtMt and analyzed the genomic DNA of patients with myelodysplastic syndromes (# 63) or with Parkinson's disease (# 332) and other @PHENOTYPICFEATURE$ such as @DISEASE$ (# 7), restless legs syndrome (# 23), and suspected neuroferritinopathy (# 7) and of control subjects (# 342).	false
+4c6bfe6818ebc22ef78eeaef6282de93b08c23d1	Sea-blue histiocytes, lymphocytic cytosomes, @PHENOTYPICFEATURE$ and 59Fe-uptake in basal ganglia: @DISEASE$ or ceroid storage disease with abnormal isotope scan?	false
+2c02b8490238ca4740563601cfd75df16c2f452f	Other authors have documented cervical spondylosis caused by @PHENOTYPICFEATURE$, but there had been no reported cases of cervical myelopathy as a complication of @DISEASE$.	false
+1710cd9bca0ae5a494947aa285ca9a9751cbadc3	Examination at autopsy revealed dysmorphic features including frontal bossing, @PHENOTYPICFEATURE$, flat philtrum, @DISEASE$, penile chordee, overriding fourth toe, and height and weight below 3rd percentile.	false
+efd9b97d49fbb4e90ebe7a3098c8abb2ef6b450a	The younger brother has celiac disease, @DISEASE$, inguinal herniae, and @PHENOTYPICFEATURE$, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy.	false
+ced4ab495a45fa42a376154044eec204d962d388	associated with short stature, @PHENOTYPICFEATURE$, facial dysmorphism, clinodactyly, @DISEASE$, micropenis, epilepsy, HPE, DWM, and HSCR.	false
+6ea345032c4193fbe4122729ca38d6d44d88e2c5	Other external anomalies included characteristic facial anomalies, overgrowth, @PHENOTYPICFEATURE$, organomegaly, pectus excavatum, and @DISEASE$.	false
+ef6388971eddbd82cfd6e2a1ae7aebc501b2b83b	He had growth and psychomotor retardation, @PHENOTYPICFEATURE$, flat feet, micropenis, and @DISEASE$.	false
+afac62c5468fcebb3536a306c0af2a961a8054c2	He had growth and developmental delay, mental and motor retardation, microcephaly, microphtalmia, triangle face, small dysplastic ears, strabismus, @PHENOTYPICFEATURE$ on the left, short stature, @DISEASE$, spasticity, pes equinovarus, pes planus, hypothroidism, stereotypic movements and febrile seizures.	false
+77a8ecfce8d57b108d1cfe6f52044cf45b4a1be3	He had growth and developmental delay, mental and motor retardation, @PHENOTYPICFEATURE$, microphtalmia, triangle face, small dysplastic ears, strabismus, epicanthal folds on the left, short stature, @DISEASE$, spasticity, pes equinovarus, pes planus, hypothroidism, stereotypic movements and febrile seizures.	false
+dab2cc162ac5bccd022b6e2301bf863b9794de34	He had mild nonspecific dysmorphic features, @PHENOTYPICFEATURE$, micropenis with @DISEASE$ and postnatal overgrowth.	false
+4a5534cbc8123fbdcc31ef486fb2a59f73da6030	The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, @DISEASE$, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and @PHENOTYPICFEATURE$.	false
+ae451b7d8fc44a18c5cc52b25c8bce4d8486a4a9	Our patient has Noonan-like features, such as short stature, short neck, @PHENOTYPICFEATURE$, ptosis of eyelids, hypertelorism, pectus excavatum, widely spaced nipples and @DISEASE$.	false
+7e7264a8ed1d47d338aa2bebe30e1f56ef5754de	He has mental retardation, short stature, micropenis, @DISEASE$, and minor @PHENOTYPICFEATURE$.	false
+abd711ef65dc4427451e5b5aefb28a59e98be45c	In this report we describe a patient with anterior @DISEASE$ caused by extrinsic compression of the left-sided inferior vena cava between the aorta and the superior mesenteric artery, as it crossed the midline, with resultant left renal vein @PHENOTYPICFEATURE$.	false
+251792f726fda3596539ad4b50a0254f67d9d2fb	Both clinically evident @DISEASE$ heart disease and @PHENOTYPICFEATURE$ have a poor prognostic significance.	false
+cb7f9ba8229b74082b5ecb44e05dd45af2339d97	Left ventricular dysfunction assessed by speckle-tracking strain analysis in patients with @DISEASE$: relationship to functional capacity and @PHENOTYPICFEATURE$.	false
+014cc25f335350e0d23ed25fd73b299df7e7d390	ND included: Parkinson's disease, dementia, stroke, hear loss, tinnitus, blindness, @PHENOTYPICFEATURE$, neurosyphilis, @DISEASE$, and epilepsy.	false
+b8c22e3d9c45c9e37ef45d517b4566ef33fb3e1d	ND included: Parkinson's disease, dementia, stroke, hear loss, tinnitus, @PHENOTYPICFEATURE$, vertigo, neurosyphilis, @DISEASE$, and epilepsy.	false
+49f3eb0cabdaa73ab8bd10c254185aa0f61089b6	NT-proBNP levels could become a useful @PHENOTYPICFEATURE$ marker for assessing the arrhythmic risk in patients with @DISEASE$.	false
+3c91b0212dcbc0b63d600328f33167ba083aeba3	Abnormal spatial QRS-T angle, a marker of ventricular repolarisation, predicts serious @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2fb30a75227ccb7a8f8d043063429391ae55c345	Heart rate turbulence impairment and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+33ca7f8323f33ba9e3f5361c7d129e43c04a8912	(3) Correlate the gynaecological involvement with salivary and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+54f3fbdb22a3503f109ec8a6d1fcce010c5e0d70	The frequent occurrence of @PHENOTYPICFEATURE$ has presented differential diagnostic difficulties to @DISEASE$ and to polymyositis.	false
+427b8df9f92145972b46e4fe95e985d94c71b100	Malignant @PHENOTYPICFEATURE$ in @DISEASE$ controlled with an implantable cardioverter defibrillator.	false
+724fceccc94614838de46b7e974600b744019d3a	Systemic scleroderma and localized scleroderma (morphea) show comparable changes on skin biopsy specimens, and a distinction has often been made on the basis of Raynaud's phenomenon, organ involvement, and @PHENOTYPICFEATURE$ characteristically seen in @DISEASE$.	false
+aec74c8500650e5550dd817bbd0ebdca18bf4fdc	@DISEASE$ and localized scleroderma (morphea) show comparable changes on skin biopsy specimens, and a distinction has often been made on the basis of Raynaud's phenomenon, organ involvement, and @PHENOTYPICFEATURE$ characteristically seen in systemic scleroderma.	false
+0f3941252ac36a16298bfa236cfb8e6b5c3b98f0	Severe adult @PHENOTYPICFEATURE$--sleep apnea syndrome in @DISEASE$.	false
+7907749a178cbb43220410d22582b9bb41cb2cb7	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), @PHENOTYPICFEATURE$, seizures, and cardiovascular abnormalities.	false
+2b11590ea28bd054f6905b0cd34394ae764cf6f9	Aims of the study are: (1) to evaluate the modifications of fiber trajectory induced by the @PHENOTYPICFEATURE$; (2) to validate preoperative DTI-FT results with intraoperative identification of functional subcortical sites through direct subcortical stimulation; (3) to evaluate the impact of preoperative DTI-FT reconstructions in a neuronavigational setup combined with @DISEASE$ technique on duration and modalities of surgical procedures, and on functional outcome of the patients.	false
+2e4ac951bdf55530d100b4036b7d884c4c33f826	[Antitumor activity of cytostatics on a newly transplanted @PHENOTYPICFEATURE$ in mice, myosarcoma @DISEASE$].	false
+915816d9a023bb7b26eec654736163ede13ad3c9	The tumour myosarcoma @DISEASE$ showed high sensitivity to cyclophosphamide, administration of which caused complete inhibition of @PHENOTYPICFEATURE$ growth and regression of tumours.	false
+168fa8af1c01f11f7f83ba7c99c89e6f94f05287	The @PHENOTYPICFEATURE$ myosarcoma @DISEASE$ showed high sensitivity to cyclophosphamide, administration of which caused complete inhibition of tumour growth and regression of tumours.	false
+b7e976a3597c5336ff6c88354f1c60132bdb3876	The tumour myosarcoma @DISEASE$ showed high sensitivity to cyclophosphamide, administration of which caused complete inhibition of tumour growth and regression of @PHENOTYPICFEATURE$.	false
+d757b3348dede55724ac33815491e380e3deb4a2	In nine of the 13 @DISEASE$ patients a metastasis was found deep within the spinal cord, unassociated with leptomeningeal carcinomatosis; this most likely resulted from hematogenous spread of @PHENOTYPICFEATURE$ from a pulmonary source.	false
+6c087fb0f8e4fac12fe1d24883262ddc5c3b7284	Unique association of @DISEASE$ with craniosynostosis and @PHENOTYPICFEATURE$ in a Mexican family.	false
+db5c2b6fc69f05b3c2e91e30516a8fe260cefda2	Prenatal diagnosis of a fetus at risk for @DISEASE$, a @PHENOTYPICFEATURE$ condition similar to achondroplasia, was performed by ultrasound at 22 weeks' gestation.	false
+ec400817470dbc76393c4f2ff9df67eea551646c	@DISEASE$ is the most common type of @PHENOTYPICFEATURE$ in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation.	false
+be3562f8e5ada3a10cf07c5f876573e552e607dc	Mesomelic and @PHENOTYPICFEATURE$: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or @DISEASE$.	false
+5943ade5140af4a71ec543b5ee8396c8fee75e41	@DISEASE$ (HCH) is a genetic skeletal dysplasia, characterized by @PHENOTYPICFEATURE$ height (Ht) with facial dysmorphology and lumbar hyperlordosis.	false
+b0b5901940f4adb1864751fc1f23f938686f929b	@DISEASE$ (NMO) is an inflammatory demyelinating disease of the central nervous system that can cause paralysis and @PHENOTYPICFEATURE$.	false
+7a80f9a8ebf02d10178dd969433faff218b6de88	@DISEASE$ (NMO) is an autoimmune disease primarily targeting the spinal cord and optic nerve leading to paralysis and @PHENOTYPICFEATURE$.	false
+8016d4587c9c761744e9e3dfe76190e8e51bd694	[@DISEASE$ (Devic's disease) presenting as reversible sudden bilateral @PHENOTYPICFEATURE$ in a child].	false
+b7f8c87e18e96030ed9ee7a79f319c753534ee81	When nine years old, she was diagnosed as having @DISEASE$ (@PHENOTYPICFEATURE$ and transverse myelitis).	false
+a807af18f0a0178f14c14548459f0dec7da2524a	The first Japanese report on @DISEASE$ rediscovered: acute bilateral @PHENOTYPICFEATURE$, tetraparesis and respiratory insufficiency in a 35-year-old man (1891).	false
+09ce9fec94bc817e211f920d7b39ae77316e220b	@DISEASE$ (NMO) is a relapsing autoimmune disease targeting the spinal cord and optic nerve leading to paralysis and @PHENOTYPICFEATURE$.	false
+b8088926b5528af0ad5c0992295fefec59afc17c	@DISEASE$ is a relapsing autoimmune disease that preferentially targets the optic nerves and spinal cord leading to @PHENOTYPICFEATURE$ and paralysis.	false
+aeb9672e2d5f0a5c1d3035da7c875db50410140f	She was subsequently diagnosed to have @DISEASE$ (NMO), a rare idiopathic inflammatory demyelinating disorder, when the clinical examination revealed left @PHENOTYPICFEATURE$.	false
+5745af1b90d511df8b6aa2fd457b9bd5d02a9a25	Rescue effects of intravenous immunoglobulin on @PHENOTYPICFEATURE$ in a rat model of @DISEASE$.	false
+ef571b056f1db25224c6c13f208dce04ae820477	A 12-year-old African American boy presented with bilateral @PHENOTYPICFEATURE$ from @DISEASE$.	false
+ac9165af60158cddcdcfa05c1b17a6a82ba3c55a	The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, @PHENOTYPICFEATURE$, seizures, @DISEASE$ A, hyperlaxity of joints and premature breast development.	false
+2443dba1981be42675bcc8fb0ab304d7b7d12fc5	The underlying diseases motivating IVIG infusion were neurologic diseases in 35% of cases (Guillain Barre syndrome = 2, @PHENOTYPICFEATURE$ = 2, neurolupus = 1, myasthenia = 1), multiple myeloma with @DISEASE$ (n = 2; 12%), primary hypogammaglobulinemia (n = 2; 12%), autoimmune cytopenias (n = 2; 12%), graft versus host cutaneous disease after allogeneic hematopoietic stem cell transplantation for acute myeloid leukaemia (n = 1), anti-HLA antibodies after lung transplant (n = 1), cancer-associated thrombotic thrombocytopenic purpura-haemolytic uremic syndrome (n = 1), Kawasaki disease (n = 1) and in experimental essay (n = 1).	false
+6099c19ae30d6f9d1e755c03a8f4bca86043cad1	Griscelli syndrome is a pathological condition with immunodeficiency and is characterised by hepatosplenomegaly, silvery hair, @PHENOTYPICFEATURE$, @DISEASE$ and pancytopenia.	false
+615e3c82837bec9d5fbe2dae9e1dbfc8f36c73ed	Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, @PHENOTYPICFEATURE$ and @DISEASE$ A in Kabuki syndrome: a rare combination.	false
+dbfb77525b287fc49c3cb4e2e05e06cb23ac71c0	The last category included two patients with Chediak-Higashi syndrome, and one each with familial hemophagocytosis, IPEX, and @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a77fb3c59c19266e9f19189038b2a09e66337c60	Two days later she developed an acute HIV infection presenting as a fulminant multisystem disease that lasted for 35 hospital days and included: immediate immunosuppression with extreme CD4+ lymphocytopenia and combined with CD8+ lymphocytosis, neutropenia and @DISEASE$; intermittent spiking fever; pneumonitis; hepatitis; changing skin rashes; @PHENOTYPICFEATURE$ with myopathy, and panencephalitis.	false
+3f2a89bf97b22b8b594f3c329c85f68308c354d9	Griscelli syndrome is a rare genetic immunodeficiency disorder characterized by pigment dilution, recurrent cutaneous and pulmonary infections, @PHENOTYPICFEATURE$, @DISEASE$, and defective cell-mediated immunity.	false
+674ab15ee0024a5fd2b80d8a735fb4161acf702b	Defective expression of 11beta-HSD2 is implicated in patients with hypertension and intra-uterine @PHENOTYPICFEATURE$, while 11beta-HSD1 appears to be intricately involved in the conditions of @DISEASE$, insulin resistance and visceral obesity.	false
+cf478163cf2581e5aa6c244cd19fed696b4557c4	Hemolytic uremic syndrome (@DISEASE$) is characterized prominently by a @PHENOTYPICFEATURE$.	false
+1c49569bc76d879fe543d9ef4b05228093aa4303	@DISEASE$ (HUS) is characterized prominently by a @PHENOTYPICFEATURE$.	false
+cf478163cf2581e5aa6c244cd19fed696b4557c4	Hemolytic uremic syndrome (@DISEASE$) is characterized prominently by a @PHENOTYPICFEATURE$.	false
+1c49569bc76d879fe543d9ef4b05228093aa4303	@DISEASE$ (HUS) is characterized prominently by a @PHENOTYPICFEATURE$.	false
+1105d35d8084089953fba666d53a85fcbf9b5442	Shiga toxin 2 may trigger classical @DISEASE$ (HUS) eventually leading to @PHENOTYPICFEATURE$.	false
+e431514d15df4603e54e8f462494fe702375852c	Shiga toxin 2 may trigger classical hemolytic uremic syndrome (@DISEASE$) eventually leading to @PHENOTYPICFEATURE$.	false
+66022f5d34657711c732c894f985cc9c99a4764f	Our patient presented with hemolytic uremic syndrome (@DISEASE$) and @PHENOTYPICFEATURE$, and later developed seizures.	false
+7faa005d8bbc394ea417344d8d8abf7d8a6db2de	Our patient presented with @DISEASE$ (HUS) and @PHENOTYPICFEATURE$, and later developed seizures.	false
+1bd930371da339f6d963994406234b34bfe6bb37	@DISEASE$ (HUS) is the cause of @PHENOTYPICFEATURE$ in 2-4% of children on dialysis.	false
+ecc4f57e2f1787ba2ee2975c79796d8072e46cdc	Hemolytic uremic syndrome (@DISEASE$) is the cause of @PHENOTYPICFEATURE$ in 2-4% of children on dialysis.	false
+c8adffe5b4e1200b2cd62535057debbd26200c32	@DISEASE$ (HUS) is characterized by haemolytic anaemia, thrombocytopenia and @PHENOTYPICFEATURE$.	false
+534f025b065a5d3726d9cf9fcb83c7596ff9d71c	Haemolytic uraemic syndrome (@DISEASE$) is characterized by haemolytic anaemia, thrombocytopenia and @PHENOTYPICFEATURE$.	false
+d8637b85730394711619f6119bfe4c6ec22a19a5	Postpartum @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+f82e57b988890ddabbe537194b48501e77239d62	The @DISEASE$ (HUS) consists of hemolytic anemia, thrombocytopenia, and @PHENOTYPICFEATURE$.	false
+26761f6ddb9d4798c5cd08565344d8001d3092bb	The hemolytic uremic syndrome (@DISEASE$) consists of hemolytic anemia, thrombocytopenia, and @PHENOTYPICFEATURE$.	false
+74302d21dc998b07d30693e5575f5d809a81f074	The relationship between postpartum @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+ed9f8702a327d824c86b009ece2c4263143322a2	Thrombotic thrombocytopenic purpura/haemolytic-uraemic syndrome (TTP/@DISEASE$) is a rare cause of @PHENOTYPICFEATURE$.	false
+9929442cd00d31bf2238f9cc386c05aa75385923	Thrombotic thrombocytopenic purpura/@DISEASE$ (TTP/HUS) is a rare cause of @PHENOTYPICFEATURE$.	false
+ab25b1f2ac3b99b18eef3216e56eecc6ab867e70	Retraction:@DISEASE$: A case presented @PHENOTYPICFEATURE$ and corpus callosum atrophy from over 10 years before the onset of dementia.	false
+f4fa994bbd2443fec0175b15ce2586557eaca4d3	In addition to early-onset @DISEASE$-like neurological disorders, they had brain malformations and @PHENOTYPICFEATURE$ compatible to dysosteosclerosis (DOS) or Pyle disease.	false
+b991f62858cd0b7d486194baa5b06045ee1121c1	Etiologies of alien limb included corticobasal syndrome (n = 108), stroke (n = 14), Creutzfeldt Jakob disease (n = 9), @DISEASE$ (n = 5), @PHENOTYPICFEATURE$ (n = 4), progressive multifocal leukoencephalopathy(n = 2), demyelinating disease (n = 2), progressive dementia not otherwise specified (n = 2), posterior reversible encephalopathy syndrome (n = 1), corpus callosotomy (n = 1), intracerebral hemorrhage (n = 1) and thalamic dementia (n = 1).	false
+b7c0f2c23043a780d16b0f84f5a1cd6cfb2381c4	[Retraction: @DISEASE$: A case presented @PHENOTYPICFEATURE$ and corpus callosum atrophy from over 10 years before the onset of dementia].	false
+e57ce111851a1c7959df8721fa513fbdbf5cfb64	@DISEASE$, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and @PHENOTYPICFEATURE$.	false
+609c000dd86c0678fcd58adce24dc25d978e8ed0	The audiological phenotype of the @DISEASE$ is heterogeneous, the type and entity of hearing loss may vary and @PHENOTYPICFEATURE$ episodes might also be present.	false
+5c31d0177ed72720578b89bdb005d224efd6716e	We describe the case of a 4-year-old child diagnosed with IDDM and @DISEASE$ who presented malaise, @PHENOTYPICFEATURE$ and nonproductive cough for several months.	false
+77084796fc82328da91de9eee86cf1ccda5c4004	We describe 2 patients whose clinical features resembled those of @DISEASE$ of the cerebellar subtype (MSA-C) but without ocular motor apraxia and @PHENOTYPICFEATURE$.	false
+ace5a56090bec25c65b3a5e226b76b3893b431be	We describe 2 patients whose clinical features resembled those of @DISEASE$ of the cerebellar subtype (MSA-C) but without @PHENOTYPICFEATURE$ and hypoalbuminemia.	false
+6bf2202ddb37d3a5517a80f960cf18a67a6a8cc6	[A case of @DISEASE$ presenting a regular @PHENOTYPICFEATURE$ of the neck muscles synchronous with respiration].	false
+28d28452923e79aada041bbeb1833bc11a5fcee7	Motor unsteadiness, @PHENOTYPICFEATURE$, weight loss and micturition disorders in a 46-year-old female (@DISEASE$ or pernicious anemia?)].	false
+c2af958e95dc3283ac93615d466da8b820829032	A patient with @DISEASE$ developed a regular, rhythmic @PHENOTYPICFEATURE$ of the neck muscles which appeared synchronous with respiration and could be described as "rocking-of-the-head".	false
+915b9b93d1685ce0589bd9857db703082adf1640	Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	false
+1f2cf4fe78cf0179b1bc02e26b77874f913c1de4	Another disease that shares two of the @PHENOTYPICFEATURE$ components of CT, namely GIST and PGL is the @DISEASE$ (CSS) or dyad.	false
+8b828f04c408596984d58614bd770c1bf39f5201	The SDHB, SDHC and SDHD gene mutations (but not SDHA) can also be found in patients with PGL and/or PCC and gastrointestinal stromal tumors (GISTs), also known as the @DISEASE$; SDHB mutations, in particular, may also predispose to thyroid and renal cancer, and possibly other @PHENOTYPICFEATURE$.	false
+a3ab459a131e2af90bbcc56b23ceacb6116cc45a	In this article, we describe 12 patients (7 male and 5 female) with an average age of 23 years from five unrelated families that manifested @DISEASE$; the @PHENOTYPICFEATURE$ were inherited in an apparent autosomal dominant manner, with incomplete penetrance.	false
+683868925e582f8a93cd380eb6806033927f412c	In decreasing order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), familial GIST syndromes resulting from germline mutations in c-Kit/PDGFRA and the @DISEASE$ (hereditary GIST paraganglioma syndrome caused by germline mutations in the mitochondrial @PHENOTYPICFEATURE$ suppressor gene pathway involving the succinate dehydrogenase subunits SDHD, SDHC and SDHB) represent the four most important GIST syndromes characterized to date.	false
+30bcf315cac1430681305823888dec3f26248ce8	In contrast to @DISEASE$ (CSS) and familial PGL syndromes, no germline or somatic mutations in the succinate dehydrogenase (SDH) complex subunits A, B, C, or D have been found in most @PHENOTYPICFEATURE$ and/or patients with CT.	false
+4d2ee271eb71c9c0eed6b8af0fc83aee26ce7d2c	However, other @PHENOTYPICFEATURE$ have been associated with SDHx mutations, such as gastrointestinal stromal tumors (GISTs) specifically in the context of @DISEASE$.	false
+b8df5b3930523bcc12c06c428c55a583855457ec	We report the case of a 47-year-old female patient suffering from @DISEASE$ with an endocrine active thoracic paraganglioma which was successfully resected with the assistance of a heart-lung machine and the gastric stromal @PHENOTYPICFEATURE$ were removed in a second surgical intervention.	false
+eb298e080b5842dd12a3ad278767f75999cef35b	By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these @PHENOTYPICFEATURE$ is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, @DISEASE$, and MEN1.	false
+623001f9ca86f191e1835ebda3e0eff1ee647773	The triad of paragangliomas, gastric stromal @PHENOTYPICFEATURE$ and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (@DISEASE$): molecular genetics and clinical implications.	false
+b86f3f23dae25a463a1cb761024a0a19d2586ce9	Patients with @DISEASE$ also commonly show gastrointestinal dysfunction, including feeding and @PHENOTYPICFEATURE$ and gastroesophageal reflux.	false
+72cefda45a4c50aa48eabe420b8328305b374522	We have found significant anatomic abnormalities in @DISEASE$ patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and @PHENOTYPICFEATURE$.	false
+99f3fadd9cdf0bc581b606f2cdcbb1f2ed98e975	Cardio-facio-cutaneous (@DISEASE$) syndrome is characterized by a variable degree of @PHENOTYPICFEATURE$, and multiple congenital anomalies including characteristic facies, cardiac, and ectodermal abnormalities.	false
+f89750a75f7aec10b8facd81bcfaf5bbdfb8565f	@DISEASE$ is a rare autosomal recessive disease in humans with a broad phenotypic spectrum not reported to include @PHENOTYPICFEATURE$, but a conserved role for prolidase in heart development was confirmed by morpholino knockdown in zebrafish.	false
+3f95f2c6a86a7098f76ea8b4ee73c9d95821f952	The triad of a presacral @PHENOTYPICFEATURE$, sacral agenesis and anorectal malformation constitutes the @DISEASE$ which is caused by dorsal-ventral patterning defects during embryonic development.	false
+7e03ff6a0fc8a3419ca80df2448fd556115faa2f	In clinical practice, a presacral @PHENOTYPICFEATURE$ with a sacral bony defect may indicate @DISEASE$.	false
+849c6c8603507590307c9f1da10ecfa38c9abcef	Congenital presacral @PHENOTYPICFEATURE$ in children were mostly mature teratomas, either as sacrococcygeal teratomas or as part of the @DISEASE$.	false
+399dbc7277b083e0b0233d2beee0def412810079	Malignant neuroendocrine @PHENOTYPICFEATURE$ in an adult female diagnosed with @DISEASE$.	false
+0689f6ff3ef33a84d65915be67e19d3c69a99836	Cholesterol-induced leptomeningitis in a patient with @DISEASE$, a triad that consists of sacral bone defects, congenital hindgut anomaly, and a presacral @PHENOTYPICFEATURE$.	false
+d12140e950d4a0c51adce0232053a23b1f328ea4	We report a case of a 60-year-old female diagnosed with a malignant neuroendocrine @PHENOTYPICFEATURE$ in the presacral mass in @DISEASE$ and describe the surgical management and pathological findings.	false
+87ded42d25e3feb572934889caffef9f970bfcf9	@DISEASE$ (CS) is a rare congenital malformation described in 1981 as the association of three main features: typical sacral malformation (sickle-shaped sacrum or total sacral agenesis below S2), hindgut anomaly, and presacral @PHENOTYPICFEATURE$.	false
+488491b011ec06c58a8c83e534aae93117ef45b4	Mutations of DP may cause @DISEASE$, arrhythmogenic right ventricular dysplasia, skin fragility/@PHENOTYPICFEATURE$ syndrome, Naxos-like disease, and Carvajal syndrome.	false
+4ab5d45786067db9a4f6c9f3e748ad591c8239fd	@DISEASE$ is a syndrome due to dysfunctional @PHENOTYPICFEATURE$ of the trigeminal nerve, and is characterized by a sudden, usually unilateral, recurrent lancinating pain arising from one or more divisions of the nerve.	false
+6a0874082e85546a6353dc1dcad72c787551a076	@DISEASE$, facial spasm, tinnitus, vertigo, and glossopharyngeal neuralgia are believed to be the symptoms complex of @PHENOTYPICFEATURE$ dysfunction of the cranial nerve caused by vascular cross compression at the root entry (exit) zone of the appropriate nerve.	false
+63fcbebb9b17bab48a260cf3c71e7c827e8fad1a	Neurologic manifestations include @DISEASE$ with associated deafness, hemifacial pain with associated migraine headaches, seizures, @PHENOTYPICFEATURE$, and neuropsychiatric symptoms.	false
+f3f47db02e0ef4c9bfa8a060fbabd6f202483429	The utilization of the endoscope in microvascular decompression (MVD) for @DISEASE$ and other associated cranial nerve @PHENOTYPICFEATURE$ syndromes allows for unparalleled panoramic views and illumination of the neurovascular structures within the CPA and identification of vessel-nerve contact traditionally unseen using the microscope.	false
+07d2b2a596c29b7b5df8bae4aa8dc149a80d407e	A recent genome-wide scan revealed suggestive evidence for two susceptibility loci for idiopathic @DISEASE$ (IGE) in the chromosomal regions 5p15 and 5q14-q22 in families with @PHENOTYPICFEATURE$.	false
+e490d7615fb4f9df0ccaf1af47a86a140af20169	The GAERS (genetic absence rats from Strasbourg) strain, a well-characterized inbred model for idiopathic @DISEASE$, spontaneously develops EEG paroxysms that resemble those of @PHENOTYPICFEATURE$.	false
+4bc0ddccb1cb7f58c6d79f2dc04b20074ce6cb34	Childhood epilepsy is a @DISEASE$ syndrome with a favorable response to antiepileptic drugs; however, a small percentage of @PHENOTYPICFEATURE$ remain refractory to drugs.	false
+002d033d48fb1beb6a90a5db5a5f610ac555aee1	Temporal lobe epilepsy (TLE) and idiopathic @DISEASE$ (IGE) patients have each been associated with extensive @PHENOTYPICFEATURE$ findings, yet to date there are no reports of head to head comparison of both patient groups.	false
+74faed5762caec49a287e778950408e6c26f1c9e	In the short stature group, Coffin-Lowry syndrome (@DISEASE$), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+79bf676a11a43b0198cabe63fc36f01d96775be2	In the short stature group, Coffin-Lowry syndrome (@DISEASE$), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+4caf00a65f403e86d0875965ad6890b724a27638	The Coffin-Lowry syndrome (@DISEASE$) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, @PHENOTYPICFEATURE$, digit abnormalities and progressive skeletal deformations.	false
+ea2f1a03bea027e4a4a22e96daba76c6b5e020cd	Coffin-Lowry syndrome (@DISEASE$) is an X-linked disorder characterized by @PHENOTYPICFEATURE$, digit abnormalities and severe psychomotor retardation.	false
+faad06ba85acb23d53ce4872153d82651d53048a	@PHENOTYPICFEATURE$ and @DISEASE$ were more important in the iv versus sc injection group.	false
+8c743d464a076f5e191c70fdf71c0aa8306a0c4e	Oral and dental findings in @DISEASE$ are common and they include thick prominent lips, high palate, midline lingual furrow, @PHENOTYPICFEATURE$, microdontia, delayed eruption, and early tooth loss.	false
+964bc49aba3998beaced030fedc48d60bc37420c	Macaques treated with a 50??g/kg dose showed moderate and transient toxicity, including @PHENOTYPICFEATURE$, signs of @DISEASE$ and renal dysfunction.	false
+68ac8f552d0533555ae069ee1a2663902b8c5225	Common toxicities included pain, @PHENOTYPICFEATURE$, nausea, emesis, diarrhea, urticaria, mild elevation of hepatic transaminases, @DISEASE$, and hypotension.	false
+41fe81f91d8e3fcd09a46301757bbe0dca156a56	The main toxicities were severe neuropathic pain, @PHENOTYPICFEATURE$, nausea/vomiting, urticaria, hypotension, mild to moderate @DISEASE$, and neurotoxicity.	false
+ec5ff2ae79f710be124bb6a26ff73aaa64d69826	No other toxicity, including @DISEASE$, vomiting and @PHENOTYPICFEATURE$, were significantly influenced by the concomitant treatment with MLT.	false
+a3e43cd2317620ac9c8f4353fc59d93046848991	Coffin-Lowry syndrome (@DISEASE$) is a rare disorder characterized by moderate to severe mental retardation, @PHENOTYPICFEATURE$, tapering digits, and skeletal deformity.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+d5416b4667013a030dd6f980caca04a61c68aae9	@DISEASE$ (FAS) is noted for @PHENOTYPICFEATURE$, developmental delays, and mental retardation.	false
+1deea33747320517dac34b5f2f8e02663a07de21	Brain @PHENOTYPICFEATURE$ is a major feature of the @DISEASE$ (FAS).	false
+8fb59f13199d0824136e9e4954bfd7e0ee332fce	@DISEASE$ is characterized by facial dysmorphology, mental and @PHENOTYPICFEATURE$, and somatic anomalies including hydronephrosis.	false
+1deea33747320517dac34b5f2f8e02663a07de21	Brain @PHENOTYPICFEATURE$ is a major feature of the @DISEASE$ (FAS).	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	false
+9d26794eb80e8e4c32ae3f7bebd192fb4040e775	@PHENOTYPICFEATURE$ is one of the principal features of @DISEASE$.	false
+18828f9e8ee7d8a4fede961666c401a8d6dcc365	[@PHENOTYPICFEATURE$ in an infant with @DISEASE$].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+aeaa7290dca86bfcc244d4bffd55d9e2b30c26c8	The @DISEASE$ includes @PHENOTYPICFEATURE$, central nervous system dysfunction and dysmorphology.	false
+30de576e95f62e5717434a30bcdd7b7facc7112d	Autoantibodies directed against the aminoacyl tRNA synthetases are associated with myositis, arthritis, Raynaud's phenomenon, mechanic's hands, fever and interstitial @PHENOTYPICFEATURE$, clinically referred to as the anti-synthetase syndrome (@DISEASE$).	false
+e694341b21ae3fbe5ffd58d77717b004e2e66e60	@PHENOTYPICFEATURE$ may be due to primary @DISEASE$ or may result from a variety of maternal or fetal causes and is associated with elevated perinatal mortality and morbidity.	false
+d1dba4e4a9b33f6d0b7315fbe5346a08980db634	The development of the trophoblastic biopsies gives us access to a new material which, in parallel with the cytogenetic analysis, often allows us, in front of an unexplained intra-uterine @PHENOTYPICFEATURE$, to direct the diagnosis towards @DISEASE$.	false
+1850acdb72dd89f3d7ce03148294eaf1a5d1bb7a	@DISEASE$, high altitude pregnancies, maternal @PHENOTYPICFEATURE$/diabetes, maternal undernutrition and stress can result in a poor setting for growth of the developing fetus.	false
+061e307664ebe9dc86a5b8527b8c6cfca1209a8f	@DISEASE$, which is an important cause of severe intra-uterine @PHENOTYPICFEATURE$, was used as a model to investigate this hypothesis.	false
+387d8ff08b3e57de9455e3c4cf3ee5f0909302d2	Such adverse exposures may include, undernutrition, @DISEASE$, hypoxia, overnutrition and @PHENOTYPICFEATURE$.	false
+edb316a6c78803b11d5335eac0afb195b6c922eb	In isolated cases chronic nicotine abuse led to intra-uterine @PHENOTYPICFEATURE$, with no other apparent causes of @DISEASE$.	false
+997ea305a012f89ae42f86e4bacd5a44730d790e	This review summarizes the lipid impairments induced by different pathologies, including @DISEASE$, malnutrition, @PHENOTYPICFEATURE$ and diabetes, and their consequent developmental defects.	false
+088b6c2a58bd4c4a3dd375adb24d2eb813aa39f4	Lupus erythematosus and other autoantibody-triggered dermatoses like pemphigus vulgaris pose an increased risk for the child because of placental transfer of autoantibodies with specific skin changes or systemic manifestations of the disease as well as @DISEASE$, @PHENOTYPICFEATURE$ and premature birth.	false
+8c5daa2c143d5768e055b54f9cc4ad06e0d52f0d	A combination of increased plasma endothelin 1 and reduced tissue prostacyclin synthesis may contribute to hypertension, @DISEASE$, foetal @PHENOTYPICFEATURE$ and renal dysfunction in pre-eclampsia.(ABSTRACT	false
+485d2c0ecb89377dd720d1f328f958723ee2220e	Patients were divided into 3 groups: severe @DISEASE$ (group I, n = 6) described by growth retardation of the fetus of more than 2 weeks, normal gestations (group II, n = 8) and slight @PHENOTYPICFEATURE$ (group III, n = 7).	false
+8b7bdead5190f1a541084dcd5754a72a186b2627	This 5-year-old girl with pre-B-cell acute lymphoblastic leukemia received vincristine while receiving posaconazole for a @DISEASE$ infection and developed unexpectedly severe @PHENOTYPICFEATURE$.	false
+7b1d92503067aa89f98ba4c781b5dd00ef51bbff	Consequences for the right side of the heart may involve the pulmonary artery with myxomatous emboli causing multiple fusiform aneurysms and pulmonary @PHENOTYPICFEATURE$, or, more rarely, the tricuspid (with need for valve replacement), vena cava (@DISEASE$) or atrial septum (right/left shunt).	false
+48fec30558c018c71a4384e949fe0ce70aa03d16	@DISEASE$ (BCS) refers to posthepatic portal vein hypertension and/or inferior vena cava @PHENOTYPICFEATURE$ syndrome caused by obstruction of the blood flow at the portal cardinal hepatic vein and/or posterior hepatic inferior vena cava.	false
+b9b0ffc6cfed73423c8d49e7faddd591f928a2e1	@PHENOTYPICFEATURE$, which typically had its onset in childhood, and bone marrow failure occurred in 19 and 3% of @DISEASE$ subjects, respectively.	false
+cc5767eaed0e8d512837d6665cf14010bbf3be4e	The B6; C3-Opa1(Q285STOP) mouse model of @DISEASE$ displays @PHENOTYPICFEATURE$, RGC dendropathy and functional visual disruption.	false
+d34f896ab40adc5089e70aa5dbb9622ea685e240	Adenosine (@DISEASE$), and stable analogs thereof, have been shown to exert antinociceptive action in cutaneous and deep somatic @PHENOTYPICFEATURE$ under experimental and clinical conditions in animals and in humans.	false
+2a95f742818d775320b16bee9469a1d99752b368	Common dental manifestations of @DISEASE$ are high-arched palate, micrognathia, malocclusion, microdontia, small dental arches, hypodontia, severe maxillary recession and mid-@PHENOTYPICFEATURE$.	false
+744c28840723f659a0f3502daeae10d7cea093dd	We report a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$, a feature that has not yet been described in KMS, and describe the potential genetic cause.	false
+c80a680bab6e711ef998fdfcbaa9208851c8e3e1	We report a patient with KMS who presented with @PHENOTYPICFEATURE$, a feature that has not yet been described in @DISEASE$, and describe the potential genetic cause.	false
+7be306ec44293f485144c29a5de6b66f8ef19239	In this report we describe the clinical course of a child diagnosed with @DISEASE$ based on characteristic clinical, radiological and morphologic features who died of a @PHENOTYPICFEATURE$ at 11-months of age.	false
+ebc76b5e8aa430bd3578790fef817d31ebb7e6b1	We present here two infants who presented with prenatal @PHENOTYPICFEATURE$/ascites, who were subsequently diagnosed with @DISEASE$.	false
+8ddc5b6994cc694aaa3ff03c8a08ac453de47be6	A 3-year-old Taiwanese boy with @DISEASE$ had a short stature, @PHENOTYPICFEATURE$, intellectual disability and typical facial features.	false
+4041359f367f02adc44615fe3c182e9f47c77906	Although some features of our patient overlap with those described in @PHENOTYPICFEATURE$, ectodermal dysplasia and cleft lip/palate, Martinez, Zlotogora-Ogur, Filippi, Freihofer and @DISEASE$, our patient has a combination of features not previously reported.	false
+3867c18abace5535b8363a154db03f44dac19e55	These results suggest that impaired vascularization and astrocyte-endothelial cell interactions in the central nervous system play an important role in the etiology of @DISEASE$ and that @PHENOTYPICFEATURE$ may underlie or aggravate neurodegeneration.	false
+af5cd790306e3aee62d61ee10e75584f911ab19f	Alpha-fetoprotein in serum and amniotic fluid in the diagnosis of neonatal hepatitis syndrome, Indian childhood cirrhosis, cystic fibrosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+614cf2a2b4a608ff13a7b438ddcb1afa86d4093b	Mutations in the BRCA1-associated protein required for the @DISEASE$ mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with @PHENOTYPICFEATURE$, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy.	false
+343a5aff8508b8d2cea1cd07bd8be0e1e097c5da	The c.3576G>A (p.K1192=) was the most common homozygous pathogenic ATM variant (33.33%) that was associated with milder phenotype of @DISEASE$ (AT) with the onset of age of 3. Patients with SACS variants demonstrated developmental delay and progressive ataxia before the age of 3. Slowly progressive ataxia and @PHENOTYPICFEATURE$ were the common clinical manifestations of the patients with homozygous c.1396delG (p.	false
+92e0f739a607db0b11266987b6cebe788844387a	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, @DISEASE$, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+9cd7095cc97f73026840415930849b4e74eee5d4	@DISEASE$: a familial degenerative disease leading to @PHENOTYPICFEATURE$--a case report.	false
+ab3fd9d0ce19ee57d88207f253509c55a75289b5	Furthermore, the specific cognitive defect caused by inactivation of the Thy-1 gene suggests that it would be worthwhile to determine the role of Thy-1 in certain human familial forms of @PHENOTYPICFEATURE$ that map to chromosome 11q22-23 in the region of the Thy-1 locus rather than the nearby @DISEASE$ locus.	false
+b707de517394f44ab3ba9b78fe483ccb63e1fda4	This region contains the NPAT and ATM genes associated with @DISEASE$ characterized by @PHENOTYPICFEATURE$; the CUL5 (culin 5) gene in the same region may modulate the neuronal migration process related to language functions.	false
+b5babb5d76859af32f6b67c629ff9a18213a5282	Benign small intestinal tumors (e.g., leiomyoma, lipoma, @PHENOTYPICFEATURE$, or @DISEASE$) usually are asymptomatic but may present with complications.	false
+2ed5b4f21ba975dd95f7f39cba742eafa212226a	To provide guidelines for clinical practice from the French College of Gynaecologists and Obstetricians (CNGOF), based on the best evidence available, concerning rare benign breast tumors: Abrikossoff (granular cell tumor), erosive adenomatosis of the nipple, cytosteatonecrosis, fibromatosis (@DISEASE$), galactocele, @PHENOTYPICFEATURE$, hemangioma, lipoma, juvenile papillomatosis, pseudoangiomatous hyperplasia, and syringomatous adenoma.	false
+5e5c50cd7af5176d1b858dd7475a956d13003d99	[Rare benign breast tumors including Abrikossoff tumor (granular cell tumor), erosive adenomatosis of the nipple, cytosteatonecrosis, fibromatosis (@DISEASE$), galactocele, @PHENOTYPICFEATURE$, hemangioma, lipoma, juvenile papillomatosis, pseudoangiomatous hyperplasia, and syringomatous adenoma: Guidelines for clinical practice].	false
+c6b3be9fc8b2b7d29b432090fe8eb626fad04534	Secondary solid @PHENOTYPICFEATURE$ and lymphoma in patients with @DISEASE$ and polycythemia vera - single center experience.	false
+e39e12f47852901c2d66dfb4ff82ffd6861c1eb6	Overt myeloproliferative @PHENOTYPICFEATURE$ were diagnosed in five patients (polycythemia vera, n=3; @DISEASE$, n=1; idiopathic myelofibrosis, n=1).	false
+7ec8c6ece33df173b99b1d88ef3ebe753b3c15f9	Polycythemia vera (PV) and @DISEASE$ (ET) are myeloproliferative @PHENOTYPICFEATURE$ (MPNs), which generally follow a benign and indolent clinical course.	false
+c3d4273ff562abf5dbf67b5fb51beaa4f1c7f6c0	A total of 524 myeloproliferative @PHENOTYPICFEATURE$ were registered for the 1980-2007 period, including 135 polycythemia vera, 308 @DISEASE$ and 81 idiopathic myelofibroses.	false
+26d4fd51dc3b19e7c9483be73ced716b1b4791c9	The classical myeloproliferative @PHENOTYPICFEATURE$ (MPNs) are a group of clonal diseases comprising @DISEASE$ (ET), polycythaemia vera (PV) and primary myelofibrosis (PMF).	false
+1c4e3e8168f93de8a062c5ec0cb92fbffe920abb	A rare case of primary cutaneous follicle centre lymphoma presenting as a giant @PHENOTYPICFEATURE$ of the scalp and combined with JAK2V617F positive @DISEASE$.	false
+123e30b02a40e3d315641a3279a6f5d7e668bfee	BCR/ABL negative myeloproliferative @PHENOTYPICFEATURE$ (MPNs) are clonal haematopoietic diseases, which include polycythemia vera, @DISEASE$ and primary myelofibrosis.	false
+373c46f7644d687419b6f437b284f538fed69460	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with @DISEASE$ (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included @PHENOTYPICFEATURE$ attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even seizures.	false
+18fa0ae6d997e5bc6fe652fbf55277771fdbf82e	The principal causes of this illness are inborn thrombophilias, @DISEASE$, @PHENOTYPICFEATURE$, autoimmunologic diseases and pathologic reaction to certain drugs.	false
+1ea9749ba62299db75dc27a85342a91299cc2656	p53 @PHENOTYPICFEATURE$ suppressor gene and RAS oncogenes: molecular analysis in the chronic and leukaemic phases of @DISEASE$.	false
+c07ce772dd2ac17bb33c0eff18c3da296d2fe9a0	@PHENOTYPICFEATURE$ is a @DISEASE$ bone tumor that is the most frequently diagnosed among children and adolescents, although this cancer affects people of all ages.	false
+7d5760c0684fb125768660f20b7c18851df068c7	Primary familial brain calcification (PFBC) is an autosomal dominant @DISEASE$ disorder characterized by bilateral and symmetric @PHENOTYPICFEATURE$, and neuropsychiatric manifestations.	false
+16ccd906857ea72ed79ea70c51209c5b55a5e998	Primary familial @PHENOTYPICFEATURE$ (PFBC) is an autosomal dominant @DISEASE$ disorder characterized by bilateral and symmetric brain calcifications, and neuropsychiatric manifestations.	false
+840f5d073a67e84f11470f3146fdd29797b8f88d	These complications include severe @PHENOTYPICFEATURE$, joint pain, skeletal deformity, pathological fracture, and @DISEASE$ malignant degeneration.	false
+cff336c63709967a71f821205ff87c9d3ef0140d	Extensive @PHENOTYPICFEATURE$ and leukoencephalopathy have been reported in two @DISEASE$ disorders Coats plus and leukoencephalopathy with calcifications and cysts.	false
+22c6b86e9f04ba2b2ab391b36f7775d151eff286	An infant with polydactyly and @PHENOTYPICFEATURE$: early diagnosis of a @DISEASE$ syndrome.	false
+90323a43c84b188da1a9c504759642e010d373ad	The COACH syndrome is a very @DISEASE$ disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and hepatic fibrosis.	false
+b90ce1a1def182f2c44e21eb3813533ff1ba97b5	Eiken syndrome is a very @DISEASE$ @PHENOTYPICFEATURE$ due to bi-allelic variants in PTH1R.	false
+8599968923fc2174758953f5d49945b231468159	Associated complications include fever, thrombocytopenia, skin-@PHENOTYPICFEATURE$ disorders, and @DISEASE$ kidney injury.	false
+d5d465a08a565e7a1a5126fd30c8bd22f1975cc0	Roberts-SC syndrome, a @DISEASE$ syndrome and @PHENOTYPICFEATURE$ repair.	false
+e5b48cf0364a6d70496fe2a24a931d17a7191f01	Atheromatous renal artery stenosis @DISEASE$ causes @PHENOTYPICFEATURE$.	false
+38965817648a9951a5fb2464c66c5d320616e61b	@DISEASE$ should be considered in the differential diagnosis of acquired childhood @PHENOTYPICFEATURE$, prompting clinicians to search for associated neurological features.	false
+26f529c464754e95bd7760897c04635655dcddb4	Methylene blue (MB) is a photosensitizer used in photodynamic therapy (PDT) to treat colorectal cancer @PHENOTYPICFEATURE$ and @DISEASE$ infection.	false
+8cc117284d20b617ed225be02a33c84227315d81	Reproduction in hamsters (Cricetus auratus) of a nodulo-@PHENOTYPICFEATURE$ cutaneous leishmaniasis of the Amazon (@DISEASE$ histiocytoma)].	false
+8cbd6ff708e36a02ccafbb08ac525d1f6da9ca91	Several disorders of early childhood, such as @DISEASE$ (DDH) and @PHENOTYPICFEATURE$, requires orthopedic treatment that limits active mobility of the lower extremities for a period of time.	false
+f603261154b02214233019b52647dd65648f6c56	The relationship between congenital @PHENOTYPICFEATURE$ (CTEV) and @DISEASE$ (DDH) remains uncertain.	false
+bdd67c57cc8368e359ff3d686b013273cf66a064	Eight patients (73%) presented with manifestations of limb undergrowth, 2 (18%) with @DISEASE$, and 1 with a cavus @PHENOTYPICFEATURE$.	false
+9d2eb19e4bd9a027db25a720767077f644cee77c	Neonatal @PHENOTYPICFEATURE$ and their relationship to @DISEASE$: an 11-year prospective, longitudinal observational study.	false
+cdb8891b2197ec09a3043fe6c50186203a4cead6	The study included a prospective cohort of consecutive patients diagnosed with @DISEASE$ (Group A, 24 patients), and @PHENOTYPICFEATURE$ (Group B, 32 patients) treated from January 2007 to June 2009.	false
+46f2354f47b4b3107349221f5f65d7762e3f06bd	Family history included early onset @PHENOTYPICFEATURE$ in four relatives; @DISEASE$ requiring surgery in three; and an atrial septal defect in the affected maternal grandmother.	false
+6349727285492c8132ae53cbce0b2df30a229368	Children having both typical @DISEASE$ (DDH) and @PHENOTYPICFEATURE$ are rare, and early treatments of both conditions are recommended.	false
+dc26408c42e1c3b551534f3750be948f26b3d240	The association between idiopathic congenital @PHENOTYPICFEATURE$ (CTEV) and @DISEASE$ is uncertain.	false
+f46f66773be1ca3e1ca5fb602634b166e48a30fb	There is some disagreement about whether idiopathic congenital @PHENOTYPICFEATURE$ (CTEV) increases the risk of neonatal @DISEASE$ (DDH).	false
+a1d93a18eda561af34e024e42126f516d20075cb	This study suggests an association between idiopathic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7df19818088c9ba89a391aacbf3d1b171c926bfa	@DISEASE$: a @PHENOTYPICFEATURE$ of early onset with radiological regression and benign course.	false
+8c147a648b4bd6c429795758aa425dbda505a1ed	@DISEASE$ (MANDP) is an uncommon chondrodysplasia characterized by early-onset @PHENOTYPICFEATURE$ and short stature that improves with age.	false
+0e5293043caca71ce4b98eabeed0a5a9101c5b7e	The results showed that PTE exhibited excellent neuroprotective effects against neonatal @DISEASE$ brain injury, as evidenced by the decrease of brain infarct volume, @PHENOTYPICFEATURE$, neurological score, and improvement in motor coordination motor deficit and working memory deficit.	false
+eca3358063f6d3ec7d58beb806eba556bb9dea84	Spinal cord stimulation (@DISEASE$) is a valid option for intractable neuropathic @PHENOTYPICFEATURE$ syndromes, yet some patients cannot undergo the standard awake procedure.	false
+ed86930fe931f0331452d7b845f77c00513e2be3	The major use of @DISEASE$ has been for multiple sclerosis and intractable @PHENOTYPICFEATURE$.	false
+7dabfca5fe92d0ae46777c7380dc8253731a9108	In the largest study to date a @PHENOTYPICFEATURE$ outcome was shown in children with Crouzon's, Pfeiffer's, Apert's, and @DISEASE$ (39.8% with 6/12 or worse in the better eye) together with significant prevalence of amblyogenic risk factors.	false
+b5c892eed8926fca85c53f436fa0c24051b34852	@DISEASE$ is characterized primarily by facial and @PHENOTYPICFEATURE$.	false
+6a9afcf46347ff566d8dde1b50c5326571f7f742	Spinal cord stimulation (@DISEASE$) is currently clinically used for the attenuation of neuropathic and visceral @PHENOTYPICFEATURE$.	false
+c6411715860e7d42ff8c43ecda2d18f25edf6d3f	Potential indications for @DISEASE$ include complex regional pain syndrome (CRPS), postherpetic neuralgia, traumatic nerve injury, failed back surgery syndrome, refractory angina pectoris, peripheral vascular disease, neuropathic @PHENOTYPICFEATURE$, and visceral pain (Guttman et al.	false
+9c5e678c95d964b709b16f72567b98ce42e49570	Potential indications for @DISEASE$ include complex regional pain syndrome (CRPS), postherpetic neuralgia, traumatic nerve injury, failed back surgery syndrome, refractory angina pectoris, peripheral vascular disease, neuropathic pain, and visceral @PHENOTYPICFEATURE$ (Guttman et al.	false
+018f3db1d676c9c78f5b7648e1f35dd0ae98dfbf	A concomitant decrease in cortical and trabecular bone mass in isolated @DISEASE$ and @PHENOTYPICFEATURE$.	false
+24dd44cf0ae3340f52de941597f53fce01578839	The performance of 16 adult patients with chromatin negative @PHENOTYPICFEATURE$ was compared with that of normal men and women, and with patients with @DISEASE$ on a series of perceptual tasks chosen to assess speed and spatial abilities.	false
+c3f9eba3a01e9bc8118aff3cd85dcf53c45726c7	These subjects may have a history of unexplained @PHENOTYPICFEATURE$, present with @DISEASE$, and, unless proper treatment is started, die early because of cardiac dysfunction.	false
+74800526b060ee898b77fde9ff3d0ef45a9077a3	During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX @PHENOTYPICFEATURE$; @DISEASE$; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity.	false
+03f4ed5a9ac950e01268cb193e8c67c1b9a67093	Among 9 women with @DISEASE$ anosmia with advanced reproductive technology-induced pregnancies, 2 experienced @PHENOTYPICFEATURE$, one from "food poisoning."	false
+5af71290908618f8dd5d92b899801e2a5098f800	The three most common causes of primary amenorrhea were M?llerian agenesis (39.7%), @PHENOTYPICFEATURE$ (35.3%), and @DISEASE$ (9.2%).	false
+69e378aa4ee8ed201bab291a0a742a7ff4441076	The three most common causes of primary amenorrhea were Mullerian anomalies (47%), @PHENOTYPICFEATURE$ (20.5%), and @DISEASE$ (14.7%) in the present study.	false
+201ed29d71f04266790efa6f8e0dfa16644ffbef	Perceptual abnormalities in patients with chromatin negative @PHENOTYPICFEATURE$ and @DISEASE$.	false
+388115e94f6cd3aaf503e5ec9bdf2c1dc2bb1007	Low circulating levels of AMH may reflect primary testicular dysfunction, e.g. in certain patients with cryptorchidism, monorchidism, partial @PHENOTYPICFEATURE$, or @DISEASE$.	false
+d0ee51b4bd58faf1ec0e2ebb2a15fac8247f313e	Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial @PHENOTYPICFEATURE$, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, @DISEASE$, isolated hypospadias and isolated micropenis was made.	false
+965b96824c1ba82d347b8cd2a23e69971dc7d5f9	Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, @PHENOTYPICFEATURE$, testicular vanishing syndrome, klinefelter syndrome, @DISEASE$, isolated hypospadias and isolated micropenis was made.	false
+46203cfed05ac58c7e863fa205117dfda4cb1462	Four unrelated participants, also not meeting MDC, had large-angle exotropia, vertical gaze deficiency, and @PHENOTYPICFEATURE$ consistent with @DISEASE$ type 3 (CFEOM3); 1 patient harbored a novel TUBB3 mutation, and 3 patients harbored previously reported de novo TUBB3 mutations.	false
+aedec5cd15f3c8f97226bd55aec2eb61fb316f92	Long-term outcome of strabismus and @PHENOTYPICFEATURE$ surgery in a mother and daughter with @DISEASE$.	false
+e6bdb82f011dc375e7b87ffac25952ef4138928a	We report familial segregation of hereditary total leuconychia (HTL) with @PHENOTYPICFEATURE$ and restriction of ocular motility due to @DISEASE$ type 1 (CFEOM1) in three generations.	false
+bd3bf555fa122bcbcfdf3bee18a69e012047af45	The importance of the C-terminal G3 domain interactions has recently been emphasized by two different human hereditary disorders: autosomal recessive aggrecan-type @PHENOTYPICFEATURE$ and autosomal dominant familial @DISEASE$.	false
+6f77d77edc0f477569b4595dd3d816b676cea93d	Overnight catheter drainage (@DISEASE$) has been suggested as a treatment for boys with valve bladder syndrome as well as those with polyuric @PHENOTYPICFEATURE$.	false
+759b35637477a872541b94a74c220c08c74abe9f	Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, @PHENOTYPICFEATURE$, familial @DISEASE$ and idiopathic short stature with normal to advanced bone age.	false
+5ec4deb87c1c275751a52089af01637c4e67e972	An IDUS identified @PHENOTYPICFEATURE$ involvement to the @DISEASE$ in all 34 patients.	false
+73088ab69d49cd365692e8f7bb0cfd488f8a782c	He had @DISEASE$ symptoms and elevated @PHENOTYPICFEATURE$ markers when he had a tumor relapse, and fluorodeoxyglucose positron emission tomography showed caudate nuclei involvement.	false
+bd2cdc88aa3475d80e6f3e7ebb115e775b8a66fc	He had @DISEASE$ symptoms and elevated tumor markers when he had a @PHENOTYPICFEATURE$ relapse, and fluorodeoxyglucose positron emission tomography showed caudate nuclei involvement.	false
+db4dce4a94a84eec8faf1edbbbfae83a5671c59f	At short-term follow-up, uncontained elbow @DISEASE$ lesions have greater @PHENOTYPICFEATURE$ when compared with contained lesions.	false
+188be4d529923b214294d774e68deb19f628654c	Eight patients were diagnosed with @DISEASE$ @PHENOTYPICFEATURE$ involvement.	false
+ca84a0f61b799a51d586ee77f9c2b0a047ab1d30	IDUS, in addition to ERCP, provides an accurate evaluation of @PHENOTYPICFEATURE$ involvement to the @DISEASE$ in patients with malignant biliary obstruction.	false
+9867bab7de4a4729b13eeca271b68e0a62c6ce32	Less common causes are @DISEASE$ and @PHENOTYPICFEATURE$.	false
+66c2a40b3e26b8742221953b26351fa2622082a4	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including @PHENOTYPICFEATURE$, spondyloepiphyseal dysplasia, familial @DISEASE$ and various undefined short stature syndromes associated with accelerated bone maturation.	false
+7ad1139ffbe65ba815a42a3dc131ade7898a3334	No increased risk for @PHENOTYPICFEATURE$, oral cleft, or @DISEASE$ was identified.	false
+d317a55df011cff2f7c9fc9e709206833b5dffac	Unknown syndrome: congenital heart disease, ptosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fefc575f53707ff9a64c5d649169496b63d02e5f	Mental handicap, @PHENOTYPICFEATURE$ and @DISEASE$ may also be associated.	false
+b27424782dccb9dd5788c9a388c9915b7e5051dc	and atypical phenotypic features such as @DISEASE$, @PHENOTYPICFEATURE$, skeletal differences, and anorectal malformations.	false
+42854727b15d87cc8ea3e7038009da3de9ee20c2	Children with @DISEASE$ rarely required a surgical airway, unless there was marked associated @PHENOTYPICFEATURE$ (1% [1/72]).	false
+5ddeee467c4b83a7e23e368dcbb66ad2671d28fa	The features of @DISEASE$, @PHENOTYPICFEATURE$, and distal extremity syndactyly in Apert syndrome are well known.	false
+26730420466067439c2820a74c73673fe7f053b9	This syndrome is characterized by coronal @DISEASE$ with @PHENOTYPICFEATURE$ and specific malformations of the extremities (wide stubly adducted thumbs).	false
+f99d180271f1c2afc3a6a4c42743dd16065d1aed	He also presented complications including @PHENOTYPICFEATURE$, @DISEASE$, nephrocalcinosis, hypotonia, and a severe feeding disorder.	false
+89e8c8d8a31634bbaaea5b47781e03a2296e3007	Distinctive syndrome of @PHENOTYPICFEATURE$, @DISEASE$, skeletal changes, and malformed ears.	false
+fbfda86789f74cb96fe3f48a8890f0e08366e0df	Here, we document a boy with @PHENOTYPICFEATURE$, developmental delay, and severe @DISEASE$ involving right coronal, bilateral lambdoid, and sagittal sutures with a de novo mutation in exon1 of SHOC2 (c.4A>G p.Ser2Gly).	false
+a37b99e19c287e722a7615d9ae8d755e403a025a	Here, we document a boy with short stature, developmental delay, and severe @DISEASE$ involving right coronal, bilateral lambdoid, and sagittal sutures with a de novo @PHENOTYPICFEATURE$ in exon1 of SHOC2 (c.4A>G p.Ser2Gly).	false
+d226519de114af5704dec13e10197c8404aa5fa2	@PHENOTYPICFEATURE$ (CHF) is associated with endothelial dysfunction, including impaired flow-dependent (endothelium-mediated) dilation (@DISEASE$).	false
+569c8e71d43b5b95a0a4edf716975a5b10b005af	Cox regression analysis was used to determine whether @DISEASE$ was associated with these @PHENOTYPICFEATURE$-related events.	false
+6140f9f4901676b1b7a32f41b84a606bc4f20243	Familial Danish Dementia (@DISEASE$), an early-onset non-amyloid-? (A?) cerebral @PHENOTYPICFEATURE$, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (AD).	false
+7cb27ac4e25fae6ee23341cd3f89cfb3afca29f4	@PHENOTYPICFEATURE$ (CHF) is associated with endothelial dysfunction including impaired endothelium-mediated, flow-dependent dilation (@DISEASE$).	false
+7b36302963f725a5c910c1436ed94d9edc644b37	Impaired flow-dependent, endothelium-mediated vasodilation (@DISEASE$) in patients with @PHENOTYPICFEATURE$ (CHF) results, at least in part, from accelerated degradation of nitric oxide by oxygen radicals.	false
+597ba4821ed387dc6e48f7472c8057c1e58a0130	In 3 case-control studies, the prevalence of overweight (12%-33%) and @PHENOTYPICFEATURE$ (17%-20%) was found to be higher in @DISEASE$ patients compared with controls (13%-23% and 0%-12%, respectively), this difference was significant in 2/3 studies.	false
+9f09ac037af570ee8ace32c2d9f961250afa2d77	Vitamin C restored @DISEASE$ in patients with @PHENOTYPICFEATURE$ after acute intra-arterial administration (13.2+/-1.7%	false
+97dada9bae9fbb51452b1a08d850f79d0cc7adb9	It has been suggested as a target for mutation in multiple types of @PHENOTYPICFEATURE$ including follicular lymphoma, T-cell acute lymphoblastic leukaemia and @DISEASE$.	false
+00e946695431eb846b11f7cc7b221141d67763b5	However, 8 of the 11 patients had a prolonged disease course with gross morphology, histology and @PHENOTYPICFEATURE$ cell phenotype indistinguishable from mycosis fungoides or @DISEASE$.	false
+3c43ecc4862d6ad0a115f4c93eba72dd034480d4	@DISEASE$ (SS) and @PHENOTYPICFEATURE$-stage mycosis fungoides (MF) are generally incurable with currently available treatments.	false
+c52a5987f78aa0815e5b0f35a1ef74ad32f0bf61	Six had generalized plaque disease and dermatopathic nodes, three had @PHENOTYPICFEATURE$ stage disease and node biopsy positive for mycosis fungoides, and three had erythroderma/@DISEASE$.	false
+d1b24f01710cdb460c2b9c69344c6b97b4a9acfb	The cytomorphologic characteristics of the @PHENOTYPICFEATURE$ cells shows a striking analogy to the atypical cells in the @DISEASE$ and mycosis fungoides.	false
+9187f08eed3b4bcffb2b7f26dfb690b706fc063d	This group included 11 with @DISEASE$ and 5 with rapidly enlarging mycosis fungoides plaques or @PHENOTYPICFEATURE$.	false
+aa80b2eaa302e4586216ae8ffdc632ed63814ff9	Cutaneous non-Hodgkin lymphomas other than mycosis fungoides or @DISEASE$ constitute a heterogeneous group of @PHENOTYPICFEATURE$ and most of these disorders are likely to represent cutaneous equivalents of nodal malignancies.	false
+0c4b99cd98592036f49c5c4a9fb08f7733e77b96	Brentuximab vedotin is a very interesting new treatment for advanced @PHENOTYPICFEATURE$ MF, @DISEASE$, and primary cutaneous CD30+ lymphoproliferative disorders.	false
+354467cd166a4f701bfd8185955a2993061edde0	Seven of 13 patients with mycosis fungoides (T3) responded, 10 had @PHENOTYPICFEATURE$ burden reductions, and 8 of 11 patients with @DISEASE$ responded.	false
+fecbfc56c5b8b5e6a5a4041ad3cc4d2bb9bd4230	Ten patients were entered: 5 with extensive plaque, 3 with @DISEASE$, and 2 with extensive @PHENOTYPICFEATURE$ with large cell transformation.	false
+4a31bfc42ba2ef13619d9b565d5ca1dfefd09240	Between May 2003 to January 2006 three patients with different initial diagnoses, such as @DISEASE$, interatrial septal defect, and @PHENOTYPICFEATURE$ of the right ventricle were studied.	false
+b6e10691abc96ec3a5b850b1008f1a1b6e5940c9	Pseudo-Meigs' syndrome caused by retroperitoneal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+a0bdf263e01117edd849db09b8e4e7771591b158	We report an extremely rare case of pseudo-Meigs' syndrome caused by a retroperitoneal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+1dd12e13d6f6313cc680b172cc706d1afe1ef1d5	@DISEASE$ about @PHENOTYPICFEATURE$, weight loss, pharmacotherapy, self- medication, diet-aid products were selected using Medline.	false
+0cc92d21068e37de65dda433f24ee2955891381e	On physical examination 13/20 patients (65%) with @DISEASE$ had a @PHENOTYPICFEATURE$.	false
+eb097ddde967240c9ebd0ce5ad0a34b05a0ffe33	The aim of this study was to describe the prevalence of @PHENOTYPICFEATURE$ (valvular thickening and/or regurgitation) or potential embolic sources (spontaneous echocontrast and/or vegetations) in @DISEASE$ patients.	false
+3ddcad65bbb94035403e814934deed5bd188363d	This @DISEASE$ reviews lipid metabolism disorders, such as elevation of free fatty acids and triglycerides level, structural changes of LDL (high level of "small dense" and modified LDL), HDL particles and more, as well as visceral @PHENOTYPICFEATURE$ often observed in patients with IGT.	false
+b5a0637eb5dd0c98a6e03a11a0d8ded9fa8a116a	Even though the proportion of @PHENOTYPICFEATURE$ was greater in @DISEASE$ patients than in the control group, we did not find significant differences, neither in patients with/without metabolic syndrome.	false
+2df1be537df4b4a1ecd55a11e1574bc9662825b7	The emerging obesity epidemic and accompanying health consequences led The Obesity Society (TOS) in 2008 to publish a position @DISEASE$ defining @PHENOTYPICFEATURE$ as a disease.	false
+dfd4133c4f1d67142e2bc65aab852c8c1f397b13	A literature survey shows that significant morbidity from valvular dysfunction, mostly mitral regurgitation leading to @PHENOTYPICFEATURE$, occurs in 4% and 6% of SLE and @DISEASE$ patients, respectively.	false
+d34a51bb6e1e754884f5d91d64aa70508fe2b098	Although common features of human @DISEASE$ such as pyogenic arthritis and skin inflammation were not recapitulated in the mouse model, ectopic expression of the mutant but not the wild type PSTPIP1 in mice lead to partial embryonic lethality, @PHENOTYPICFEATURE$, and elevated level of circulating proinflammatory cytokines.	false
+b9569212186b8e1a3cc9eaf24c0b2368f1f4d93d	Cardiac involvement (@PHENOTYPICFEATURE$ and/or embolic sources) was present in 33/40 (82%) of @DISEASE$ patients.	false
+300649260d1fa31ae7d2d0c2bab9d3fe69a2dcf2	Importantly, AZD1480 induces cell death of Kms.11 cells grown in the presence of @DISEASE$ bone marrow (BM)-derived stromal cells and inhibits @PHENOTYPICFEATURE$ growth in a Kms.11 xenograft mouse model, accompanied with inhibition of phospho-FGFR3, phospho-JAK2, phospho-STAT3 and Cyclin D2 levels.	false
+c1d1062088c5bf1cf3504d0ccd426c524213821a	Cytogenetic analysis provides further evidence for the presence of karyotypically abnormal HPCa cells in the HPCa/@DISEASE$ @PHENOTYPICFEATURE$.	false
+7e2c62e3f94b7be2ba800e85c7a731a0085606b2	We describe the case of an 8-yearoldboy with @DISEASE$ who developed chronic and acutecutaneous lupus @PHENOTYPICFEATURE$ with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies.	false
+86f84743b4cf003e662ad0bd10f88042d661339d	After 2 months of @DISEASE$ treatment, the follow-up chest X-ray showed great improvements in @PHENOTYPICFEATURE$ and cardiomegaly.	false
+c737142669dcf5bf40343c46fd1b5c2d60f278fa	@PHENOTYPICFEATURE$ and myelopathy in @DISEASE$.	false
+6c545f6dde6bb0753680d358aee2f7403885763e	DISEASE NAME AND SYNONYMS: Syndromic diarrhea - Phenotypic diarrhea - Tricho-hepato-enteric syndrome - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - @DISEASE$ phenotype with intractable diarrhea and @PHENOTYPICFEATURE$ - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.	false
+52fa8706839c9f1a1820884cc498b36eaa6697b4	Features present only in @DISEASE$ are contractures, anomalies of the spine, ribs and pelvis, @PHENOTYPICFEATURE$, hydronephrosis, and agenesis of the corpus callosum.	false
+3d4e92535be39a5b04ff26b59576943fe9ff70cb	Conflicting results about the prognostic value of Glasgow Prognostic Score (@DISEASE$) in @PHENOTYPICFEATURE$ (HCC) patients have been reported.	false
+ef2d18ff6f3a623bc2a158654b975869dd64d9c6	Magnetic resonance imaging of @PHENOTYPICFEATURE$ in a neonate with @DISEASE$.	false
+2197019b7dad6b42df1b9e903973d68d53eda52c	Camurati-Engelmann's disease (@DISEASE$) is a rare hereditary disorder affecting mainly the diaphysis of long bones but multiple cranial nerve deficits may also develop secondary to bony sclerosis of their foramina, including @PHENOTYPICFEATURE$, facial palsy, deafness, vestibular disturbances and sensory deficits along the distribution of the trigeminal nerve.	false
+c0fcc557ee072e57b63783a34fad47feee8cc15d	Performing @PHENOTYPICFEATURE$ surgery before, after or in combination with vitrectomy did not make any significant difference with respect to final @DISEASE$, CCT or CV.	false
+1e5ac308b691ec5db41e7c851654f4d795c6736f	To assess the impact of sequential and combined surgery [@PHENOTYPICFEATURE$ surgery and 23-gauge pars plana vitrectomy (PPV) with peeling] on corneal endothelium cell density (@DISEASE$) and corneal biomechanical characteristics.	false
+2ec71507e1abee5a22f83a9c8c5cf623501e99cf	A case has been presented where uncomplicated intracapsular @PHENOTYPICFEATURE$ extraction and smooth implantation of a Copeland lens was followed by CME, later by @DISEASE$.	false
+8ee12887c2b7d6c8ab6ca837f3f0930f8e2d2256	Intrasellar @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bc1e542e8aa606e6309300a2803194b60ba3135d	@PHENOTYPICFEATURE$ has been recently recognized as a key marker of disease progression in @DISEASE$ (CADASIL).	false
+e6d61c990722d2d22f19f3a0d6274fd9e0f46e34	@DISEASE$ (CADASIL) is characterized clinically by recurrent cerebral infarcts, subcortical dementia and pseudobulbar palsy, and morphologically by a granular @PHENOTYPICFEATURE$ and, to a lesser degree, extracerebral blood vessels.	false
+1da04128d0f80c0e5fdb394345cbbd1315a060db	Kallmann's syndrome combines @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bb083b76074807d45f8141820edb581ca7ceea07	Kallmann syndrome is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bb083b76074807d45f8141820edb581ca7ceea07	Kallmann syndrome is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+acf94148276e60de63db3b9bd4c5a8926042df5a	Kallmann's syndrome is characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ebe4223b9ede260daf1983031f30bd2b8423fd34	Kallmann syndrome (KAL) combines @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cad8947180143eed18d4e17d3e7f68ab78034346	Ovarian morphology in women with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6e7c9a81aec66578108cf735e4c3bbf2501fae5c	Kallmann syndrome (KS) combines @PHENOTYPICFEATURE$ and @DISEASE$.	false
+faceb43ef3eefff0dd8d688132c7cea6ecf28313	@DISEASE$ predicts @PHENOTYPICFEATURE$ in CHARGE syndrome.	false
+8b22e8eaa77f6c5cafe0c3f8c403a4a9ecd9a732	Kallmann's syndrome is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bb083b76074807d45f8141820edb581ca7ceea07	Kallmann syndrome is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c204e04645286b7a743a8ab7b2c40f016bceaca1	[Fetal angiotensin converting enzyme (@DISEASE$) inhibition @PHENOTYPICFEATURE$].	false
+361dfe20b49283d0f5d7968fff41001705dcd64f	In patients with diabetic nephropathy @DISEASE$ inhibitors also slow the progression of @PHENOTYPICFEATURE$.	false
+eb3f21887d0c72a5415551dc73a736aa9fdaec93	Late findings of @DISEASE$ can lead to limb amputation, @PHENOTYPICFEATURE$, paralysis, multiorgan failure, and death.	false
+78fb70608fc7df4969b6c2e07482f2fc1480593f	Isolated @DISEASE$ deficiency (IAD) is a rare cause of neonatal @PHENOTYPICFEATURE$ and hypoglycaemia.	false
+c1f399af89756a3b5e00b6485f21e12d34c71594	Small-cell lung cancer presenting as ectopic adrenocorticotropic hormone (@DISEASE$) syndrome associated with hypothyroidism and @PHENOTYPICFEATURE$ is clinically very rare.	false
+c0e2213a44b57dc3222357e62f44358c80717a6d	Indications for decreasing tibial slope included medial compartment osteoarthritis with at least one of the following: @DISEASE$ deficiency, posterior meniscus deficiency, or @PHENOTYPICFEATURE$.	false
+22a2d9b34a2462524a73c44d66dcd27526398b69	The processing is abnormal in @DISEASE$-producing tumours, especially in ectopic ACTH-producing @PHENOTYPICFEATURE$.	false
+0d0e80aaa5ebe80861f15b0df1c535a2f191ae0d	The processing is abnormal in ACTH-producing @PHENOTYPICFEATURE$, especially in ectopic @DISEASE$-producing tumours.	false
+df7d04854850c5f95f55ca1cacb0d1f183abfcf4	The processing is abnormal in @DISEASE$-producing @PHENOTYPICFEATURE$, especially in ectopic ACTH-producing tumours.	false
+3b9eb7557713c98ab18959f6084f551cd12dc956	The processing is abnormal in ACTH-producing tumours, especially in ectopic @DISEASE$-producing @PHENOTYPICFEATURE$.	false
+2b3bc712b10f04b1486c15eab80fbe6e5f58550d	After the exclusion of 100 patients (60 deaths during hospitalization, 40 severe @PHENOTYPICFEATURE$), 400 @DISEASE$ patients (291 males, 71.1?13.0	false
+68145330f66d4a7607aa47d1604fa8e953c6bbc3	The timely diagnosis and management of @DISEASE$ is crucial to avoiding its sequelae, including renal failure, ischemic @PHENOTYPICFEATURE$, and limb loss.	false
+a3b9355275d4d508fe3fc6115454cac70e3e2019	The timely diagnosis and management of @DISEASE$ is crucial to avoiding its sequelae, including @PHENOTYPICFEATURE$, ischemic contractures, and limb loss.	false
+1b00c755a886e582645cbfde0fffd90363d7aa37	Aggressive treatment with @DISEASE$ inhibitors may delay the onset of overt @PHENOTYPICFEATURE$ or delay its progression.	false
+3ce606f1486912957b777ddcefc2bc3129e304df	Since typical symptoms of ON, like @PHENOTYPICFEATURE$, might be misinterpreted as common extraintestinal manifestations, ON might easily be overlooked in patients with @DISEASE$ (IBD).	false
+d993d04c8b6ebdfd7e4288107777f104341fa13d	Since typical symptoms of ON, like @PHENOTYPICFEATURE$, might be misinterpreted as common extraintestinal manifestations, ON might easily be overlooked in patients with inflammatory bowel disease (@DISEASE$).	false
+b129750d7640cc91b8985a760a6f8bbe80036d04	Incidence of benign upper respiratory tract infections, HSV and HPV @PHENOTYPICFEATURE$ in @DISEASE$ patients treated with azathioprine.	false
+30f5ad6fb8827fa68f4a679bb134b33115212534	NUDT15 R139C causes thiopurine-induced early severe @PHENOTYPICFEATURE$ and leukopenia in Japanese patients with @DISEASE$.	false
+7d9ba01c0c06f4d29464ed90e8dafe3b80a03fd6	@DISEASE$ patients with back pain ? 3 months and/or peripheral @PHENOTYPICFEATURE$/swelling [n = 155], and IBD patients without joint complaints [n = 100; controls], were followed for a period of 1 year.	false
+14917844ae200b54d30f664bc6f61ffa3a59c398	IBD patients with back pain ? 3 months and/or peripheral @PHENOTYPICFEATURE$/swelling [n = 155], and @DISEASE$ patients without joint complaints [n = 100; controls], were followed for a period of 1 year.	false
+e087cb0da4bccbbae958fbe564712e2f352ba826	Motility disorders, functional gastrointestinal disorders, @DISEASE$ and @PHENOTYPICFEATURE$ - is there a link?	false
+6c9cfdb950fc8445db89bb0cbe6aa832b6611b6e	NUDT R139C was significantly associated with early severe @PHENOTYPICFEATURE$ in Japanese patients with @DISEASE$.	false
+454f2f98586980c25f54f0dabcf897fb7fd101cd	@PHENOTYPICFEATURE$ vegetans, a rare disorder of the skin, is considered a highly specific marker for @DISEASE$, especially ulcerative colitis.	false
+0e36244d611ee34c2ba8453376160f01efa0e0fe	A diagnosis of ESpA was made in 50.5% of @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+34476a33a9a028278a52e36232d23ff89e968135	Mild arthritis/@PHENOTYPICFEATURE$ is the most frequent extraintestinal manifestation in @DISEASE$ (IBD) and has been reported to occur in 10-35% of patients in different studies.	false
+a53fcc42a47d38e97e464a01fc4af8748b344b36	Mild arthritis/@PHENOTYPICFEATURE$ is the most frequent extraintestinal manifestation in inflammatory bowel disease (@DISEASE$) and has been reported to occur in 10-35% of patients in different studies.	false
+b1bd03c0750e41358b45e4141e35a38d5f116e4c	At baseline and at 12 months, patients completed questionnaires on the extent of back/@PHENOTYPICFEATURE$, @DISEASE$ disease activity, illness perceptions, coping, QOL, and work productivity.	false
+107b11da0bc907b4af58a5aa30bdade82558cd4f	As @PHENOTYPICFEATURE$ and oculocutaneous telangiectasias are not present at very young age, these patients are often erroneously diagnosed as @DISEASE$ (HIGM).	false
+8eac2d8ee795cd45c363798c58fe7975fb2fbd8f	This review provides insights into some of the adverse effects of BPs, such as gastric irritation, @PHENOTYPICFEATURE$ of the jaw, atypical femoral fractures, @DISEASE$, atrial fibrillation, and ocular inflammation.	false
+74c964266ab2a782f4e88da269348b5d5f218307	We present a case of reversible @PHENOTYPICFEATURE$ syndrome caused by hyponatremia during neoadjuvant chemotherapy with 5-FU+CDDP for @DISEASE$.	false
+a141e5e83c5875a165265d0960d47643f043d517	Diseases and conditions that were associated with a reversible lesion included epilepsy receiving AED (n=1), @PHENOTYPICFEATURE$ from eclampsia receiving AED (n=1), mild infectious encephalitis (n=2), hypernatremia resulting in osmotic myelinolysis (n=1), and neoplasm (n=3) such as acute lymphocytic leukemia, spinal meningeal melanocytoma, and @DISEASE$.	false
+27b2b3a8741bb27b4c2203abf0a498234f884ab3	These adverse events include @PHENOTYPICFEATURE$ of the jaw, atypical fractures, and @DISEASE$.	false
+f9236501dfb3889b78495a2cf0ddc4f07b06b81e	Following the use of bisphosphonates in millions of patients in clinical practice, some unexpected possible adverse effects have been reported, including @PHENOTYPICFEATURE$ of the jaw, atypical femur fractures, atrial fibrillation, and @DISEASE$.	false
+aaca4d6c88b097595da8d1bfeee9e4b25b4f7638	We searched PubMed, Web of Science, and Scopus using keywords bisphosphonates, risk of fracture, atrial fibrillation, @PHENOTYPICFEATURE$ jaw, @DISEASE$, and adverse effects with no time limitation.	false
+4fc08467af0e142a78b741623f0056f48d7fd174	This review also covered the safety of bisphosphonates in the setting of glucocorticoid-induced osteoporosis with specific focus on atrial fibrillation, @PHENOTYPICFEATURE$ of the jaw, upper gastrointestinal adverse events and @DISEASE$ risk, atypical fractures and renal safety.	false
+b8ded2a39ff48eedc43f8fbdc87f4aeb82224275	However, as bisphosphonates are retained for years in the skeleton, reports of adverse events from prolonged use are surfacing in the literature, namely, @DISEASE$, atrial fibrillation, @PHENOTYPICFEATURE$ of the jaw, and atypical fracture development.	false
+9480a1be811e7d356491fcf267ba57a344d1fe72	[A case of reversible @PHENOTYPICFEATURE$ syndrome caused by hyponatremia during neoadjuvant 5-FU+CDDP therapy for @DISEASE$].	false
+7d11e03d76e0fd089e1a63264d2c52a25e87b22e	These abnormal vessels were within and close to the @DISEASE$ only and were not found away from the @PHENOTYPICFEATURE$.	false
+4cac2e7a4c33d35992828a3ef133961f3c933879	@DISEASE$ is one of the rarest @PHENOTYPICFEATURE$ of the endocrine pancreas.	false
+cc510e923b73b7f49e8f5db3d884d95bd6ed10f9	Duodenal @DISEASE$, gangliocytic paragangliomas and poorly differentiated neuroendocrine carcinomas, are also well defined @PHENOTYPICFEATURE$ entities.	false
+bd8172ccb16e277e47739e8d12ac8e3e023ab25b	The patient had recurrent jaundice, the typical @DISEASE$ syndrome, positive MR imaging but negative ??Ga-DOTATOC PET scanning in a histopathology-proven somatostatinoma @PHENOTYPICFEATURE$.	false
+1c2c16648cb65eac960754f8cef2a6fa05774cbd	The patient had recurrent jaundice, the typical somatostatinoma syndrome, positive MR imaging but negative ??Ga-DOTATOC PET scanning in a histopathology-proven @DISEASE$ @PHENOTYPICFEATURE$.	false
+246ac70f9b62033d3c2cf3f9db7a7e795d7c7a06	If diagnosed early in the absence of distant metastases the prognosis of papillary @DISEASE$ with @PHENOTYPICFEATURE$ resection is excellent.	false
+1a938a8e3177ece2eeb17a7086ed2f4620fc29ed	Glucagonoma and @DISEASE$ are @PHENOTYPICFEATURE$ which produce the respective hormone.	false
+979ec786814bcf4f64dbb10f9816705d58db63de	Gastrointestinal stromal @PHENOTYPICFEATURE$ (GIST) have also been described in NF1, but the association with @DISEASE$ is very uncommon.	false
+1052b76fec93953fc2c2b12961de429daad2d301	Neither @PHENOTYPICFEATURE$ was associated with the @DISEASE$ syndrome comprising associated diabetes mellitis, steatorrhoea and cholelithiasis.	false
+9bad6d3c0e31c4a769407c22e078237dc1885a93	Duodenal @DISEASE$, gangliocytic paragangliomas, and differentiated neuroendocrine carcinomas are also well-defined @PHENOTYPICFEATURE$ entities.	false
+fd09b0ce144c65b2ef62800a1d46a1e8d4ea8ddb	The diagnosis of @DISEASE$ was certified post operatively by the immunocytochemistry of the @PHENOTYPICFEATURE$.	false
+77553561e3e393cdacbf2ac8873114c0339f22d4	To determine the usefulness of MR imaging in locating known structural landmarks of the cochlear nuclear complex (CNC), and to determine the frequency of @DISEASE$ abnormalities, based on these landmarks, in patients referred for MR evaluation of unilateral @PHENOTYPICFEATURE$.	false
+0b07c6c04760a4a640162bac318d35903cf663bf	In 10 of these 136 patients (7.4%), the @DISEASE$ abnormalities shown on MR proved to be the cause of the @PHENOTYPICFEATURE$.	false
+a25869c774293415996c0038946d82a3d4fc9236	Over 1 year, approximately 7% of patients referred for MR evaluation of unilateral sensorineural hearing loss had MR-determined focal @DISEASE$ abnormalities that caused the @PHENOTYPICFEATURE$.	false
+a9ce774f39a244c60a1f8c88433dd3fa4a23eb66	Over 1 year, approximately 7% of patients referred for MR evaluation of unilateral @PHENOTYPICFEATURE$ had MR-determined focal @DISEASE$ abnormalities that caused the sensorineural hearing loss.	false
+487f71601a468f331b2f811751f6b90b104b1c9c	For ROP, a lighter BW, smaller GA, vaginal delivery, postnatal @PHENOTYPICFEATURE$, inotrope use, @DISEASE$, surfactant use, invasive mechanical ventilation, and supplementary oxygen were independent risk factors for ROP, while PET was protective (P ? 0.02).	false
+7d9f9d9ec723a9e3b3859683fc242689512872db	This study assessed physiological measures for the study of emotional dysregulation associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+0c754e1d24bddd75ec5095f9dc313b75d143fce0	Diuretics are frequently used in preterm infants in various situations such as patent ductus arteriosus, respiratory distress syndrome, @DISEASE$ or neonatal @PHENOTYPICFEATURE$.	false
+a9fb99ba15985f1d8c0fa90a208c446e32bee77e	Significant elevation of apoptotic activity may play a role in the development of @DISEASE$, ischemic brain lesions, and @PHENOTYPICFEATURE$.	false
+b78cc3974b6e53f22d3b013addc22e444b98a75f	Surgical ligation of patent ductus arteriosus in these patients is well tolerated, especially if the attention to prevent @DISEASE$, necrotizing enterocolitis and @PHENOTYPICFEATURE$ is optimized.	false
+4113d976f0c0f4a3e01bdf96ddad743e829c78b8	We compared outcomes of both agents for in-hospital mortality, need for surgical ligation, intraventricular hemorrhage, necrotizing enterocolitis, @DISEASE$, periventricular leukomalacia, @PHENOTYPICFEATURE$, and persistent pulmonary hypertension.	false
+e76376db28ef7935d54b953367666a52a6f1f899	Three newborn girls who eventually died had been suffering from a @PHENOTYPICFEATURE$ and a serious @DISEASE$, serious intractable deterioration after surgery for necrotising enterocolitis, and trisomy 18 respectively.	false
+9ec1c42301830c0d4e27912f3b629abff7eec36f	However, we observed a shorter FL and a lower FL/@DISEASE$ ratio without associated @PHENOTYPICFEATURE$ in overgrown foetuses.	false
+01b9f2925a928f5dbe9ffdbccd19c5d2f8b29934	The indications for acute dialysis were @PHENOTYPICFEATURE$ following cardiac surgery (4); hemolytic-uremic syndrome (4); and renal failure associated with bromide intoxication (1), congenital urethral stricture (1), or @DISEASE$ (1).	false
+3126f68ff0ca1ae02d1198c18bba23a1ffe9650d	The indications for acute dialysis were renal failure following cardiac surgery (4); hemolytic-uremic syndrome (4); and @PHENOTYPICFEATURE$ associated with bromide intoxication (1), congenital urethral stricture (1), or @DISEASE$ (1).	false
+51f500fd1406d9e733328e6793f6261595675885	There was no difference in mortality, @DISEASE$, renal calcifications, seizures within 7 d of birth, @PHENOTYPICFEATURE$, or intracranial hemorrhage between cohorts.	false
+acd1f78b6d367c27946391cc9ac1472511d4002f	Out of three patients with @PHENOTYPICFEATURE$, one patient had severe visual impairment caused by microphthalmia and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had @DISEASE$.	false
+d4f14521e86b81e3614b1f0694eafd2888566212	The percentage prevalence of the eye lesions among the onchocerciasis infected inhabitants was @DISEASE$.4%, glaucoma 3.7%, @PHENOTYPICFEATURE$ 0.6% and uveitis 18 (5.5%).	false
+d3b613cf12b75a23f8311cf3017eeab6f24b2e0f	Consequently, impaired ABC transporter function is involved in inherited diseases like @DISEASE$, @PHENOTYPICFEATURE$, or cholestasis.	false
+c172fd4457b59b17c446125aa93c855df2878d47	Microinjection of cholinergic agonists into the mPRF produces a rapid eye movement (REM) sleep-like state and @DISEASE$ @PHENOTYPICFEATURE$, but the neuroanatomical pathways mediating this hypotonia are not clear.	false
+c6723ea7fb3721f8d920ac68dc4193a6417a733e	The aim of this study was to evaluate the differential effects of mild therapeutic hypothermia (MTH) in post-cardiac arrest syndrome (@DISEASE$) patients depending on the presence/absence of hypoxic @PHENOTYPICFEATURE$ (HE) in the early brain CT images obtained before the initiation of MTH.	false
+941a6dd3f7e2c0ae148e518d3db8b26aa42c4f9c	No side effects (sedation, @PHENOTYPICFEATURE$, bradycardia, @DISEASE$ hypotension) were reported.	false
+ab52a89ebb2b22d50b677eea9919b0fd68f7870c	Clinically, the lower limb symptoms of PAD are intermittent claudication, discoloration of the toes, and @PHENOTYPICFEATURE$, all due to @DISEASE$ insufficiency.	false
+38974565a4bd5dcd064bad200cfb9c6b83bbbd4d	We believe that NPWT is useful for treating patients with diabetic foot infections and @PHENOTYPICFEATURE$, especially when these conditions are accompanied by peripheral @DISEASE$ insufficiency.	false
+0ee72b2d5a2094d1ae4c7f7ad73d10c3783527de	Original immunophenotype of blood endothelial progenitor cells and microparticles in patients with isolated @DISEASE$ @PHENOTYPICFEATURE$ and late onset hypogonadism: effects of androgen replacement therapy.	false
+6df825fc0d4bc11b2a27afad8a780b78a7de5b3d	The therapeutic efficacy of apomorphine was not reduced by domperidone, while nausea, @PHENOTYPICFEATURE$, sedation, and @DISEASE$ hypotension were prevented.	false
+dce81b1847612f40c947b4e9511c1e3594a82953	@PHENOTYPICFEATURE$ is most frequently caused by pelvic @DISEASE$ insufficiency due to atherosclerosis, and its sentinel relationship to generalized atherosclerosis is insufficiently appreciated.	false
+255d425e23ec1d2eb5af1625a12b406b1b04ed86	A positive association was noted with stroke severity, early @PHENOTYPICFEATURE$, @DISEASE$ fibrillation, hypertension and fever at onset.	false
+5425ad2da7014797b57a6d3bde08cd11450884e4	as a risk factor of early @PHENOTYPICFEATURE$ in acute ischemic stroke with TOAST type of large @DISEASE$ atherosclerosis.	false
+50436bdb3c71501169d76a43720eddc999e24d10	The complications it can present include pharyngeal neuropathy, @DISEASE$ hypertension, diurnal @PHENOTYPICFEATURE$, cognitive disorders and a lowered quality of life.	false
+a3d54d11d5f956aabaaab5a08532055845a9e7e1	Differential diagnosis includes stage 2 pressure ulcers, incontinence-associated dermatitis, skin tears, bruising, haematoma, venous engorgement, @DISEASE$ insufficiency, necrotising fasciitis and terminal @PHENOTYPICFEATURE$.	false
+a0cf3da8fefcd7c0fd160b2a2b04f95eab2ebaa2	@DISEASE$ includes a clinical triad with periodic paralysis, @PHENOTYPICFEATURE$ and dysmorphic features most often mild but relevant.	false
+3b3f7d5f062d28bac00db81e369fcd1f56641a1b	@DISEASE$ (ATS) is characterized by a triad of periodic paralysis, @PHENOTYPICFEATURE$ and distinctive dysmorphic features.	false
+cbdc987cb7c73e73113f1299aa5b541c45fa78e2	@DISEASE$ (AS) is a rare disease characterized by the presence of periodic paralysis (PP), @PHENOTYPICFEATURE$ and dysmorphic abnormalities.	false
+61cf6de14128fc796f5141b2d012e8356ae08891	@DISEASE$ includes a clinical triad consisting of periodic paralysis, @PHENOTYPICFEATURE$, and usually mild but diagnostically useful dysmorphic features.	false
+f253c11e58f190815f5f6a28061b2fc5f7b00f18	@DISEASE$ (ATS) is a multisystem inherited disease exhibiting periodic paralysis, @PHENOTYPICFEATURE$, and dysmorphic features.	false
+504d270697df2fe79a828d88d29a615e30d97422	@DISEASE$: an association of periodic paralysis, @PHENOTYPICFEATURE$ and dysmorphic abnormalities.	false
+58a97b0caf051dc9197e98873b49ad889f00009e	@DISEASE$ (ATS) is a rare @PHENOTYPICFEATURE$ disorder caused by a mutation in the KCNJ2 gene.	false
+0c79696def52bc9bd02c9c0fb7a96a266483cf37	@DISEASE$ (ATS), a rare autosomal dominant disorder, is characterized by periodic paralysis, dysmorphic features and @PHENOTYPICFEATURE$.	false
+77761958574397e4e224ac7c3d7579049c3079c2	@DISEASE$ (ATS) is characterized by periodic paralysis, @PHENOTYPICFEATURE$, and distinct facial and skeletal features.	false
+afac673f40738d5727ce5e7ffbe512bf8cc3e2c5	The @DISEASE$ (ATS) is an autosomal dominant or sporadic disorder characterised by periodic paralysis, @PHENOTYPICFEATURE$ and dysmorphic features.	false
+09b1f0a21fcb872096711f9e6bbb2ba8cc9aa122	The clinical features include @PHENOTYPICFEATURE$, @DISEASE$, and cognitive decline reflecting progressive neurodegeneration.	false
+24bb6b00de8819f4ebdf0f8b3eaf9981e7dc6df5	To further understand the genetic underpinnings of the NCLs, we performed whole-exome sequencing on DNA samples from a Mexican family affected by a molecularly undefined form of NCL characterized by infantile-onset progressive myoclonic epilepsy (@DISEASE$), @PHENOTYPICFEATURE$, cognitive and motor regression, premature death, and prominent NCL-type storage material.	false
+6b975062b4f705aa629ad105386a62afda24a899	To further understand the genetic underpinnings of the NCLs, we performed whole-exome sequencing on DNA samples from a Mexican family affected by a molecularly undefined form of NCL characterized by infantile-onset @DISEASE$ (PME), @PHENOTYPICFEATURE$, cognitive and motor regression, premature death, and prominent NCL-type storage material.	false
+6a0eb41dd96d5dce3343c9da6750170d29f9ea41	The clinical features of LINCLs include @PHENOTYPICFEATURE$ and @DISEASE$ (PME) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration.	false
+ddb0b1c7453a904107e4f10dcbaf0c2655573e53	The clinical features of LINCLs include @PHENOTYPICFEATURE$ and progressive myoclonus epilepsy (@DISEASE$) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration.	false
+add119633ed87ac15af7904fe57ffa7819ea9abc	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, @PHENOTYPICFEATURE$, oculomotor apraxia, dystonia, cerebellar atrophy, and @DISEASE$.	false
+1c84a24959ab9fd053d55cd4cffa850720cc5062	Mutations in the KCTD7 gene have been associated with @DISEASE$ and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to @PHENOTYPICFEATURE$, and progressive cortical and cerebellar atrophy).	false
+127de7a45264f04ecb27d5e7f462cc19e062e9ac	@DISEASE$ is a common cause of blindness and visual impairment, and is characterized by elevated intraocular pressure, @PHENOTYPICFEATURE$ and visual field loss.	false
+938a354f5743aaf8ad3550d22651bed03ed56372	@DISEASE$ is a common cause of @PHENOTYPICFEATURE$ and visual impairment, and is characterized by elevated intraocular pressure, optic nerve degeneration and visual field loss.	false
+023ff83013b7190d45df92c03c17ec7419aa10b1	Prevalence and causes of @PHENOTYPICFEATURE$ in Iceland, with special reference to @DISEASE$.	false
+4fe954e94d499f0b1b8e537a911b8f36c5a66a0c	@DISEASE$ is one of the most common causes of @PHENOTYPICFEATURE$ in industrialised nations.	false
+741b3550396696e34487414a1af5beb914fd5306	Chronic @DISEASE$ is an important cause of @PHENOTYPICFEATURE$ in North America.	false
+d473dd32727eaa42a3aa49bcd283a4873677c7d8	Factors associated with lifetime risk of @DISEASE$ @PHENOTYPICFEATURE$.	false
+b95c97aaa174f7d8ab0b3b6999b7511c7cbf4e05	@DISEASE$ (OAG) is a common cause of @PHENOTYPICFEATURE$.	false
+4a4a4485d5173769cb17eb8bea5d4927ef3c803c	It thus represents the most common identifiable cause of @DISEASE$ and a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+405f5c80c533ddbb2cc51a7f56b22e3c24354d54	The primary causes of incident bilateral blindness (U.S. criteria) in 126 eyes were age-related cataract (48.3%), @DISEASE$ (OAG) (14.3%), combined cataract and OAG (6.3%), diabetic retinopathy (8.7%), and @PHENOTYPICFEATURE$ (7.1%).	false
+88b4f0c3033c7f3dae0b233772e0da1edebcbd38	The primary causes of incident bilateral @PHENOTYPICFEATURE$ (U.S. criteria) in 126 eyes were age-related cataract (48.3%), @DISEASE$ (OAG) (14.3%), combined cataract and OAG (6.3%), diabetic retinopathy (8.7%), and optic atrophy (7.1%).	false
+52c0083057aac678af304e33b4aaf965f7ad4be6	Binocular @PHENOTYPICFEATURE$ was mainly due to cataract, @DISEASE$ and aphakia.	false
+072cce62e06f9acd04119716f808bc0f7f4be38b	@DISEASE$ (OAG) is a major cause of @PHENOTYPICFEATURE$ worldwide.	false
+2f60eff09eba24bfdfb1d6547b1945ea7aa86113	[A case of @DISEASE$ with prominent whole body @PHENOTYPICFEATURE$ and choroidal detachment].	false
+befefc516ee6621ab00e82a75bb7b39334805c37	In this case report, two siblings with @DISEASE$ and a mild @PHENOTYPICFEATURE$ were investigated.	false
+cf5dc83cf939e5da3396b7cc19ebd8799e03aa2b	Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-ectrodactyly-cleft lip or palate, @PHENOTYPICFEATURE$-ectodermal defects-cleft lip and palate, Clouston syndrome, @DISEASE$, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls.	false
+0509ba144ab686b2ff267628c297336b24f2defb	@DISEASE$ is characterized by tetrasomy of the short arm of chromosome 12p, which produces @PHENOTYPICFEATURE$ of varying degrees and dysmorphic characteristics.	false
+1272fa97d21c11ccb75e0d0a7dfb5c54f4ceb8ef	@DISEASE$ is a rare disorder characterised by a specific combination of anatomic anomalies, @PHENOTYPICFEATURE$ and lack of speech acquisition due to tetrasomy 12p.	false
+f819c243850ea5ad6caaf6622a0eeb0b68013b2f	@DISEASE$ is characterised by intellectual disability, hypotonia, motor @PHENOTYPICFEATURE$ and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia.	false
+c236a3c5df3731341814900aa239e697882a4823	@DISEASE$ is characterised by @PHENOTYPICFEATURE$, hypotonia, motor disability and a characteristic phenotype in which notable features include a rugged-looking face, alterations affecting the pigmentation of the skin and bitemporal alopecia.	false
+584d66d9e6928fba24a0047c3f84c942ea2bb826	@DISEASE$ (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with @PHENOTYPICFEATURE$, craniofacial dysmorphism, and epilepsy.	false
+df39111aca850caa47e320ab8fe15046ab8e6f29	@DISEASE$ (PKS) is a rare disorder characterized by a specific combination of anomalies, @PHENOTYPICFEATURE$ and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited.	false
+640c18fd76b97cc7d7499074bc2faf09e3293de1	Thus, although most individuals with Pallister-Killian syndrome studied showed profound @PHENOTYPICFEATURE$ and sensory impairments, individuals with @DISEASE$ can have mild to moderate intellectual disability.	false
+130e52c53eacf33b5ca54cc92551c144d304294d	Thus, although most individuals with @DISEASE$ studied showed profound @PHENOTYPICFEATURE$ and sensory impairments, individuals with Pallister-Killian syndrome can have mild to moderate intellectual disability.	false
+cf8dea3566a1aee1a338d4c9039e55e27fc4b2bd	@DISEASE$, an aneuploidy syndrome, comprises a characteristic facial appearance, @PHENOTYPICFEATURE$, and multiple other anomalies.	false
+e4cfacb9578b6f6112a25f8c0ba2a1f85924fe6b	@DISEASE$ (PKS) is a genetic disorder characterized by @PHENOTYPICFEATURE$, seizures, streaks of hypo- or hyperpigmentation and dysmorphic features.	false
+d6304884e5eaca287a22a766265ef540922d7c48	Therefore, in individuals with physical examination findings of @DISEASE$, formal diagnostic testing should be considered, even in individuals with mild to moderate @PHENOTYPICFEATURE$.	false
+f5afed883a28c48160fb872f440d87d225405ddc	@DISEASE$ (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, @PHENOTYPICFEATURE$, auditory disturbance, and epilepsy.	false
+05adbcb03a38efa2be4a4fa696f2bafa2d58dc3b	We report on a patient with atypical Silver-Russell phenotype comprising severe @PHENOTYPICFEATURE$, unusual facies, bilateral Duane anomaly and @DISEASE$ caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7.	false
+d9f5313cbe985f7e27188b441d277cbb29c5ab63	Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2ef062d30da74582271eb0baef43ecbe782c4c05	Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, @PHENOTYPICFEATURE$, and occasional @DISEASE$, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23.	false
+e51f11dd397cf968b8a0374a96951b6932ec0df9	The phenotype of WS consists of typical dysmorphic features, supravalvular aortic stenosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+91623d4f24c359568a1e1af311d73f8b2b67f234	The calcium levels at presentation ranged from transient neonatal hypocalcemia to @DISEASE$ to childhood/adolescence @PHENOTYPICFEATURE$.	false
+f9fe7ea0c42bd05951914b25f22b52ac47c38b04	Williams syndrome, due to a contiguous gene deletion at 7q11.23, is associated with a distinctive facial appearance, @PHENOTYPICFEATURE$, @DISEASE$, and growth and developmental retardation.	false
+447e3ca693254e203ae68706d4750d865be6e2b0	A characteristic facial appearance, mental @PHENOTYPICFEATURE$ deficiency, cardiovascular anomalies, and @DISEASE$ are major features of the Williams-Beuren syndrome.	false
+546c4ad0b09d039e34848d95f71850b2899d77e5	Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and @PHENOTYPICFEATURE$ (particularly supravalvular aortic stenosis), associated at times with @DISEASE$.	false
+0a5c098b080b2f7ae27d2dcf190d5f745aba7cf6	lesions of the spine in the form of osteochondrosis and spondyloarthrosis observed at ? of the number of @DISEASE$ patients, and clinically overt occurs in 35% of cases, which is directly related to patient age, involving in the process of wrist, elbow and hip joints, the presence of systemic osteoporosis and tendovaginitis, sensory and motor disorders due to @PHENOTYPICFEATURE$.	false
+d3d7b4fa1fa246bab872fd41330b39013511c0e3	In case 1 @DISEASE$ was identified by the presence of oligohydramnios, microcephaly, and @PHENOTYPICFEATURE$.	false
+c2f814cee353f8285eb98dbbae982ba8ad63ab98	The Arab Genetic diseases include Bardet-Biedl syndrome, @DISEASE$, autosomal recessive severe childhood @PHENOTYPICFEATURE$, osteopetrosis and renal tubular acidosis, Sanjad-Sakati syndrome and others.	false
+da648f6c68e9fa3daa5f91a5a9e2e15902e1492d	Endemic to soils of Northern Australia, Burkholderia pseudomallei is the Gram-negative pathogen responsible for @DISEASE$, which causes a clinical spectrum ranging from pneumonia and/or @PHENOTYPICFEATURE$ to disseminated disease with fulminant septicaemia.	false
+068853a3f84dde1fc25f4450c181d896dba27888	DiGeorge syndrome (@DISEASE$) occurred more frequently in IAA type B. Case-control comparisons demonstrated that infants in both groups were @PHENOTYPICFEATURE$ at birth.	false
+755742ede3e82ac6716d5be87b518bf1f8c3799f	@DISEASE$ (DGS) occurred more frequently in IAA type B. Case-control comparisons demonstrated that infants in both groups were @PHENOTYPICFEATURE$ at birth.	false
+2c1961bc800a5929fbfdf610a4eb344764152875	@DISEASE$ commonly presents with a classical triad of conotruncal @PHENOTYPICFEATURE$, hypoplastic thymus and hypocalcaemia.	false
+554d744b60de14ad97ad6280473a5d4f50be669a	Monozygotic male twins with @DISEASE$ had facial dysmorphism, @PHENOTYPICFEATURE$, hypocalcemia, and immunodeficiency; however, they showed differences in several aspects of this developmental complex.	false
+1c029c819c21ecf3bc597b4673b470857b4b7722	Many patients with @DISEASE$ have @PHENOTYPICFEATURE$; however, our patient had none.	false
+c6ffcdc62588cf6f5bf290a1a85e7ab4cdcccd24	Conotruncal @PHENOTYPICFEATURE$, hypoplastic thymus, and hypocalcemia are the classic triad of @DISEASE$.	false
+e5cae7b3e237f4189e0ea7ff5745260e6264d95c	@PHENOTYPICFEATURE$ (CHDs) appear in greater frequency among relatives of patients and in individuals with DiGeorge syndrome (@DISEASE$) or velo-cardio-facial syndrome (VCFS).	false
+71e377740c1d2b5eea04a7a5a1e3041ecc059cd1	@PHENOTYPICFEATURE$ (CHDs) appear in greater frequency among relatives of patients and in individuals with @DISEASE$ (DGS) or velo-cardio-facial syndrome (VCFS).	false
+7bccb26c483d5790d356313146b716d5becfb225	Congenital @PHENOTYPICFEATURE$ associated with the @DISEASE$: a neonatal experience.	false
+b897795b8196c1309286c36256b8f69ad45e5a94	DiGeorge syndrome (@DISEASE$), characterized genetically by a deletion within chromosome 22q11.2, is associated with a constellation of @PHENOTYPICFEATURE$.	false
+38d28da9f61e2c897a6199f329a4ffefb02dfd3c	@DISEASE$ (DGS), characterized genetically by a deletion within chromosome 22q11.2, is associated with a constellation of @PHENOTYPICFEATURE$.	false
+f4b39b7363c6d13a226736cca2185a894275e2e1	One child died in the neonatal period from @PHENOTYPICFEATURE$ accompanying complete @DISEASE$.	false
+71b0eb3acc2f459ed7fc44e4a3cec7c819272e5c	Complete @DISEASE$ is a fatal congenital disorder characterized by athymia, hypoparathyroidism, and @PHENOTYPICFEATURE$.	false
+11b34915b7f550dbe7a2084ea3a30965f5ed466b	Patients with CFS and @DISEASE$ show similarly substantial motor impairment, but @PHENOTYPICFEATURE$ are generally more marked in MDD.	false
+3a9fa60d2ef8899ea4f5e84a329ed94eb9751464	Patients with CFS and MDD show similarly substantial motor impairment, but @PHENOTYPICFEATURE$ are generally more marked in @DISEASE$.	false
+f357cce5f89c3c047ea39d953a37db0970c62e95	@PHENOTYPICFEATURE$ in @DISEASE$ are a principal mediator of psychosocial impairment, notably workforce performance.	false
+3096a970cc4eb13d7832f092e7b5cfde34429bce	@PHENOTYPICFEATURE$ are a principal mediator of occupational impairment in remitted @DISEASE$ patients.	false
+9662a57d9af098de7eb65ea4323296cc97eaa2cd	@PHENOTYPICFEATURE$ may also impede functional recovery, including workforce performance, in patients with @DISEASE$.	false
+72b4dee1bf341073c9f4effb05f27f5916434dec	@PHENOTYPICFEATURE$ in @DISEASE$ are replicable, non-specific, and clinically significant.	false
+47755ada829d944bcac9278e06266f6201eef9bd	@PHENOTYPICFEATURE$ in @DISEASE$ are consistent, replicable, nonspecific, and clinically significant.	false
+ef93201fd5bb28d6c95a5aee88726a4aec6d0c20	However, the relationship between @PHENOTYPICFEATURE$ and psychosocial functioning in @DISEASE$ is under-investigated.	false
+7de6341efeba278c58500ceddb6f32a9e638222e	Major depressive disorder (@DISEASE$) is a debilitating and @PHENOTYPICFEATURE$ mental disorder.	false
+205e4f623cb5a36c4bb1c0a6dd9aca89607c5247	Several authors describe that the @PHENOTYPICFEATURE$ and the dopaminoglutaminergic system disturbances are more severe in TRD than in @DISEASE$.	false
+764a18228f7c41be0c61c272a88d06fda147f875	Major Depressive Disorder (@DISEASE$) is typically accompanied by @PHENOTYPICFEATURE$.	false
+afba123d6a5dcaa3526305e47610fd41f3e11afe	According to the aetiological factors studied, mothers who presented a @PHENOTYPICFEATURE$ during pregnancy had a 2.54 times greater chance of having children with severe @DISEASE$ than mothers who did not present a fever (P?=?0.045).	false
+d1a5a803b96f0bc27735cbb2362ab28dd0966df9	This high prevalence of dental anomalies, particularly @PHENOTYPICFEATURE$, in children with @DISEASE$ is a novel and clinically important finding.	false
+cfe96c430eb1e2049bdf541530c26d325ef365a0	Obstructive @PHENOTYPICFEATURE$ and @DISEASE$: a bidirectional association.	false
+6cf207683806dc9a103f30b9ee0c9a739f5a1bfa	Hypouricemia and @PHENOTYPICFEATURE$ in @DISEASE$: two different phenotypes.	false
+625b04075f85f6e666273943624cad3025432a16	@PHENOTYPICFEATURE$ and development of @DISEASE$ in Asian population.	false
+195bd472bb1a64e4f4bf5b80883f425962998096	Diffuse interstitial skeletal @PHENOTYPICFEATURE$ (DISH) in @DISEASE$.	false
+53eda4cca2003992df5a5dfb4d426f48c7c4a993	Obstructive @PHENOTYPICFEATURE$, @DISEASE$ and cardiovascular risk factors.	false
+822c55c5786b91544eb58464c198d510194e4090	Obese patients are at an increased risk for developing many medical problems, including insulin resistance and @DISEASE$, hypertension, dyslipidemia, cardiovascular disease, stroke, sleep apnea, gallbladder disease, @PHENOTYPICFEATURE$ and gout, and osteoarthritis.	false
+2cc14acecc2e3e10886d96d5bbf761eecca5209e	Obese patients are at an increased risk for developing many medical problems, including insulin resistance and @DISEASE$, hypertension, dyslipidemia, cardiovascular disease, stroke, @PHENOTYPICFEATURE$, gallbladder disease, hyperuricemia and gout, and osteoarthritis.	false
+716c5cc8b19edcde72c33856c6505f8efdf71ce3	@PHENOTYPICFEATURE$-hypopnea syndrome and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+d4a6cf6a9d13cf3fb56ee1e336e53a5c6714f84f	@PHENOTYPICFEATURE$ and hematuria in @DISEASE$.	false
+9b2387f750b46de33a52e338d0dff7473595802a	@PHENOTYPICFEATURE$ and albuminuria in patients with @DISEASE$.	false
+2e7f6a34b5a49954504a0ebe477ae96602b3d25e	These were: vesicoureteral reflux (99 cases or 30,75%), hypospadias (62 cases or 19,26%), pelviureteric junction obstruction (42 cases or 13,04%), megaureter (35 cases or 10,87%), duplex pelvis and ureter (16 cases or 4,97%), bladder diverticulum (8 cases or 2,48%), ureterocoele (7 cases or 2,17%), stenosis of the external urethral opening (6 cases or 1,86%), ectopic kidney, duplex kidney and pelvis (each 5 cases or 1,55%), polycystic kidneys and urethral stricture (each 4 cases or 1,24%), multicystic kidney (3 cases or 0,93%), kidney agenesis, ureter agenesis, urethral diverticulum, ectopic ureter, horseshoe kidney and fetal kidney (each 2 cases or 0,62%), renal aplasia, urethral atresia, @PHENOTYPICFEATURE$, urachal cyst, epispadias, @DISEASE$, renal hypoplasia, renal malrotation and Prune-Belly syndrome (each 1 case or 0,31%).	false
+203b486c70822ea9e51c792a9c7e8ffc1ccefc3e	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, hypospadias, hydrocephalus, spina bifida/encephalocele, @PHENOTYPICFEATURE$, @DISEASE$ and imperforate anus.	false
+f8f8a0bccab564e717da98247cb458cdbc70b70d	Fumonisin B1 is associated with various animal and human carcinomas and toxicoses, including leukoencephalomalacia, hepatocarcinoma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0acdc76b3d7c70e5c845a85974a20e99ff55a404	Preoperatively undetected solitary bile duct @PHENOTYPICFEATURE$ (von Meyenburg complex) associated with @DISEASE$.	false
+d82db310d683dd9270c1d5b8ab84913cc04519fc	@PHENOTYPICFEATURE$ observed in the @DISEASE$ are implicated in the origin of the cardiovascular complications that occur in this syndrome.	false
+2ec869890dc8b19d6f56f4fff49a6a795e175af3	[@PHENOTYPICFEATURE$ in bilateral @DISEASE$; a contribution on effects and disorders of organizers].	false
+dba465598325448253aab4ebbfd995eb137446a7	In addition, @PHENOTYPICFEATURE$ is not a typical complication of @DISEASE$.	false
+c4ce1f3023290a75a2e7152f3b3ed2034ffd3462	An 8-year-old girl with @DISEASE$ and 45,X/46,X,r(X) mosaicism was found to have @PHENOTYPICFEATURE$ and various other characteristics including 'kabuki makeup' facial features and mild learning disability.	false
+31eb1d41191ca27d89332e717f5be8c39c10a41c	An 8-year-old girl with @DISEASE$ and 45,X/46,X,r(X) mosaicism was found to have agenesis of the corpus callosum and various other characteristics including 'kabuki makeup' facial features and mild learning @PHENOTYPICFEATURE$.	false
+92f47092c7ad0bd8f2b92e88c7f4382b7aeb884f	We report on a 19-year-old woman with 45,X Ullrich-@DISEASE$ who was @PHENOTYPICFEATURE$ and had hypotonia.	false
+16626386d0bf5672ce4ca508fd1c08d834b409f8	The patient presented with failure to thrive, @PHENOTYPICFEATURE$, and minor facial anatomic anomalies, all concerning for @DISEASE$.	false
+e06a565efdd73c02f53eb60ba34ec3a38d81ef7b	Ullrich-@DISEASE$ with @PHENOTYPICFEATURE$.	false
+6349bf2b8eb70d8f9f5436d4fd2f05b331ca9c71	Although most patients with 45,X/46,X,+r(X) have the Ullrich-@DISEASE$, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, @PHENOTYPICFEATURE$, and abnormal face.	false
+f553b33742cd56c9bbe3cdea507c2396577e1569	Although most patients with 45,X/46,X,+r(X) have the Ullrich-@DISEASE$, 2 previously described patients with this karyotype also had a distinct phenotype consisting of @PHENOTYPICFEATURE$, syndactyly, and abnormal face.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+48a17c5926fb8cc77d714718a306ac240887539c	A case report of @DISEASE$ associated with fetal nuchal cystic hygroma and bilateral @PHENOTYPICFEATURE$ of the hands and feet.	false
+1a0a410bb1c2fbf6275396f2efae9508b68d598b	The promyelocytic leukemia (PML) protein is a @PHENOTYPICFEATURE$ suppressor factor mostly known by its involvement in @DISEASE$ (APL).	false
+7d20d3ebe156b2352e92a7c7d024e19ef45a6cd3	The @DISEASE$ (PML) protein is a @PHENOTYPICFEATURE$ suppressor factor mostly known by its involvement in acute promyelocytic leukemia (APL).	false
+252e68b601495505a60095b06d804cd6e487778f	Scant literature exists regarding treatment of relapsed @DISEASE$ in patients with @PHENOTYPICFEATURE$.	false
+3332125577e86cc8179d66a9a4269563d92e4199	Effect of dialysis on all trans retinoic acid levels in a child with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+652c84e281d8c5eb90428d39223a14941a1a90c6	Promyelocytic leukemia protein (PML) is a @PHENOTYPICFEATURE$ suppressor involved in the t(15;17) translocation that causes @DISEASE$ (APL).	false
+c40a16d39676d379a73a8b9338c0f2d5a9a022b3	@DISEASE$ protein (PML) is a @PHENOTYPICFEATURE$ suppressor involved in the t(15;17) translocation that causes acute promyelocytic leukemia (APL).	false
+db95cf621bb30cde15a8473afb5253f20d940452	The function of the @PHENOTYPICFEATURE$ suppressor @DISEASE$ (PML) protein is disrupted in promyelocytic leukemia.	false
+8387bf9e515ab6b4c7e991ca9ad11f1a39c9a85f	The function of the @PHENOTYPICFEATURE$ suppressor promyelocytic leukemia (PML) protein is disrupted in @DISEASE$.	false
+bbea592e2ab6926f5d1b2b09e6bd05aeca53d1fd	The authors report a 9-year-old boy presenting with a left @PHENOTYPICFEATURE$ infarction as the first manifestation of @DISEASE$.	false
+c51966bc937fec165408511fbe94dd91fab6faf6	Intestinal stromal @PHENOTYPICFEATURE$ coexisted with @DISEASE$: a case report.	false
+0b3965ef512ee338474847c721c87d282fdd7dc0	Microbial and acute phase stimuli disrupt @DISEASE$ @PHENOTYPICFEATURE$ suppressive nodes.	false
+e7acd367cc8dc7582e7614eda66f492db7b77f6e	Oncogenes and @PHENOTYPICFEATURE$ suppressors in the molecular pathogenesis of @DISEASE$.	false
+75355e707b77caec4cf82f0d263887fa94aed13c	Activation of a promyelocytic leukemia-@PHENOTYPICFEATURE$ protein 53 axis underlies @DISEASE$ cure.	false
+88b8ed067a9d194d7f6a281dd61fd14683000e0c	Activation of a @DISEASE$-@PHENOTYPICFEATURE$ protein 53 axis underlies acute promyelocytic leukemia cure.	false
+2287cbb9faadfb33f1cb5ec056bf07b38c8b3204	One atypical form of LQTS, @DISEASE$ (TS), is associated with syndactyly, immune deficiency, cognitive and @PHENOTYPICFEATURE$ as well as distinct cranio-facial abnormalities.	false
+a17c4875bef8c9456fc910ff9c4c401915418e8d	We present a family with findings of @DISEASE$ and a presenile appearance due to decreased subcutaneous tissue with drawn skin, defective wound healing, @PHENOTYPICFEATURE$, and thin hair.	false
+0a9607207aa892f42f2cf4e2f9622d37ae764583	@DISEASE$ often causes @PHENOTYPICFEATURE$ due to the close relation to the anterior visual pathways.	false
+73eadb9809f0ccfef43a2ca13cdadf6d1626722b	Diagnosis profile for pediatric and adult @DISEASE$ is characterized by a combination of headache, @PHENOTYPICFEATURE$, and polyuria/polydipsia, which can also include significant weight gain.	false
+b3c0d996ccfb24a6ad14ee58f70f581bab857e05	@DISEASE$ causing @PHENOTYPICFEATURE$ in an adult.	false
+810a191b535cb21c2bab282b293f5ca737c3e462	@DISEASE$ presenting as amenorrhoea-galactorrhoea syndrome and acute @PHENOTYPICFEATURE$.	false
+faefd05ca6fc33c6f011b5669a3ec13e6483bcde	[Acute @PHENOTYPICFEATURE$ in pregnancy caused by @DISEASE$].	false
+cd0c3dcf33b5c4ce9d91ec4f174985ab728988b6	Medium- and long-term prognosis of @DISEASE$ is overwhelmed by the risks of hypothalamic and @PHENOTYPICFEATURE$.	false
+56ce381c8b2c6b1d127364eb926de47d305823ba	We report on a 5 year-old boy in whom @DISEASE$ was diagnosed due to unilateral @PHENOTYPICFEATURE$.	false
+be51e1cd3f7b7aa0836825fe7f78b0e0fccc7652	@DISEASE$ presenting as unilateral central @PHENOTYPICFEATURE$.	false
+e0d4875becfd50726bdc9e0957f09262dcc4f5de	To assess the visual outcome of children with @DISEASE$ and identify predictors of @PHENOTYPICFEATURE$.	false
+5e464ebc7d8a5db2a234a171894b1289125136e8	Patients with @DISEASE$ are at an increased risk for the MetS, especially patients with @PHENOTYPICFEATURE$.	false
+0419269172cacd640a5076b34b21962cfe324ad7	(Cardiofaciocutaneous @DISEASE$ is a rare disorder characterized by psychomotor and growth retardation, a typical @PHENOTYPICFEATURE$, congenital heart defects, and ectodermal abnormalities.	false
+442a86ddbe00999c019dd05aad15d068acfb2c04	B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in @DISEASE$ patients, including reduced life span, small size, @PHENOTYPICFEATURE$, cardiomegaly, and epileptic seizures.	false
+3ea2da741c40a605ee8c30c868a7e213472c7a87	Trio-based whole exome sequencing (WES) analysis detected a de novo heterozygous @PHENOTYPICFEATURE$ in the BRAF gene leading to the diagnosis of an atypical presentation of (cardiofaciocutaneous @DISEASE$.	false
+3a6108c966a178511d7c0580818a99ec99a766c8	Noonan syndrome (NS) and cardio-facio-cutaneous (@DISEASE$) syndrome are autosomal dominant disorders characterized by heart defects, @PHENOTYPICFEATURE$, ectodermal abnormalities, and mental retardation.	false
+6767b31c4577d73e7cd4f6d086c6586036fd7b07	[Effect of immunization with live @DISEASE$ vaccine on the growth of various @PHENOTYPICFEATURE$ strains in rats].	false
+6b2ca74b0e916b680c4593094448ecaa7e8fe3bf	It is established that rat immunization with @DISEASE$ living vaccine inhibits Pliss lymphosarcoma growth and increases the life duration to @PHENOTYPICFEATURE$ bearing animals.	false
+ef384f8bcf1223e9f1e178f32dc459857fc178af	[The action of @DISEASE$ vaccine on DMBA-induced @PHENOTYPICFEATURE$ in rats].	false
+fe2263278f4aed6474000b5390e24946b32a35ea	In @DISEASE$, besides spleen @PHENOTYPICFEATURE$, alterations in lungs prevailed, having a vitreously smoky appearance, bacon-like on cross section.	false
+d790da22f81870638d0bb74aa01fa5b65b0a5bde	Oropharyngeal @DISEASE$ mimicking @PHENOTYPICFEATURE$ relapse in a patient with Hodgkin lymphoma in remission.	false
+10f6f3a8f79174ccb69468001635cad824f8bd09	The living @DISEASE$ vaccine is studied for its effect on rat @PHENOTYPICFEATURE$ and chromosome aberrations in bone marrow cells during 3,4-benz(a)pyrene injection (BP).	false
+695a2693cd9d86258f290cca7a1c2479497d65b7	The differential diagnosis of myocardial tuberculosis includes sarcoidosis, rheumatic fever, rheumatoid arthritis, giant-cell-containing @PHENOTYPICFEATURE$, idiopathic (giant-cell) myocarditis, and bacterial infections such as @DISEASE$ and brucellosis.	false
+bac4280b8d93bc43c2c5de386271e80dd47f2498	Eighty percent of the children had normal CT scan; 8.7% showed @PHENOTYPICFEATURE$ and in only 11.3% was there a specific abnormality; such as infarction, porencephalic cysts, and @DISEASE$.	false
+963d67dd7e07a3d4ae86021a20ced97adaadc222	@DISEASE$ in a child previously described with @PHENOTYPICFEATURE$, extrahepatic biliary atresia, patent ductus arteriosus and seizures.	false
+d2b0fed8fa39849c335c157bef54b44f6b6ad910	We report a male with late infantile @DISEASE$ (Pompe's disease) who presented at 12 months of age with @PHENOTYPICFEATURE$ and developmental delay.	false
+c50b87119196bc794afdbebbaf72e1abda1cb124	Pompe disease or @DISEASE$ (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+1d9716492ad03d05ffd969a944167b6670b0ed33	So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile @DISEASE$ (Pompe's disease), myoadenylate-deaminase deficiency, mitochondriopathy, Barth syndrome, Friedreich @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease.	false
+ed5a202e0f1e2df90b711290e91228758634d798	When combining lamictal and valproates, the best results were obtained in @PHENOTYPICFEATURE$, especially in idiopathic @DISEASE$, and in young and middle-age female patients with active social functioning.	false
+62977054c11f70715ff1e9c262d184b3e5ece00f	For pediatric @DISEASE$ syndrome, 1-stage total callosotomy will be the first choice in treatment for controlling @PHENOTYPICFEATURE$.	false
+6145713a22f52efb802bf9043fba13ebe1342593	PER is approved in the Russian Federation as adjunctive treatment for focal seizures with or without secondarily @PHENOTYPICFEATURE$ and for primary generalized tonic-clonic (PGTC) seizures in idiopathic @DISEASE$ (IGE) in patients with epilepsy aged ?12 years.	false
+d2ab5b96fa49eee8a3bf137adfc6d4680ef55306	As a result, patients were diagnosed with idiopathic @DISEASE$ (18 cases), epilepsy with rare, usually secondary @PHENOTYPICFEATURE$ (37 cases), drug-induced remission (46 cases) and long-term spontaneous remission usually associated with late childhood and adolescence (18 cases).	false
+5611872408c1ca2e66ef76bef32a6a7f73406d9a	Lennox-Gastaut syndrome a combination of various @PHENOTYPICFEATURE$ including atypical absences and tonic seizures with generalized slow spike waves and mental deterioration, is often difficult to distinguish from a subgroup of myoclonic-astatic epilepsy, other @DISEASE$ syndromes, and various symptomatic generalized epilepsies.	false
+df4dfe1f00be3e5117b661d26a44b8c995516ceb	These effects were bilateral in tonic-clonic seizures in idiopathic @DISEASE$ and also in secondarily @PHENOTYPICFEATURE$ in patients with focal epilepsy.	false
+c7f053341a42abff9dc19221192e48a35f27e0d4	The exact anatomic and neurophysiologic correlates of idiopathic @DISEASE$ (IGE) in humans are still not well understood, although the thalamus has frequently been invoked as the crucial structure in the generation of @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+84dd660d0acca06e9b4c5946f7bc2de3a9ed2111	@PHENOTYPICFEATURE$-@DISEASE$.	false
+c82ef794eff74a60979e6c09d82f6ebdf287a7bd	Tics associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bcbdb853992476f61960849696ce584f74a2ab31	Diagnosis of @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+1ee8593e073c12fc9c648948ba76ef40d18d2d77	Attention deficit @PHENOTYPICFEATURE$ symptoms in children with @DISEASE$ disorder: a cross-sectional descriptive study.	false
+9f91a02e84641682d81f39b1945eda95da51e5b9	Epidemiology of @DISEASE$ disorder and other @PHENOTYPICFEATURE$.	false
+aacaf29ed10aad4736af5ee85be299113fd331ee	Current concepts: @DISEASE$ and the @PHENOTYPICFEATURE$.	false
+a5d0db091ad1c577c04dd4e6c44ea3cef068084b	attention @PHENOTYPICFEATURE$ deficit disorder, @DISEASE$) in our society.	false
+791827029498543fe0de004ac30c26012c9506c6	Childhood Disintegrative Disorder (CDD), a clinical syndrome distinctfrom @DISEASE$, is a rare unremittingly @PHENOTYPICFEATURE$ resultingfrom disintegration ofmentalfunctions and progressive neurological abnormality.	false
+87ca009461f4d7f136bfa9df5f62a7baeabc84ef	Childhood Disintegrative Disorder (CDD), a clinical syndrome distinctfrom @DISEASE$, is a rare unremittingly pervasive developmental disorder resultingfrom disintegration ofmentalfunctions and progressive @PHENOTYPICFEATURE$.	false
+1b52de9280cc340b8f758252a36a91d673070a68	Macrocephaly in @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+cd3618ef70c0f4e4cd54bb705b694f170b0112fc	These data suggest that Marinesco-Sj?gren syndrome with @PHENOTYPICFEATURE$ and myoglobinuria, and @DISEASE$ are genetically identical and are caused by a single founder mutation.	false
+0cc2fd378cc1dd69ac702ac20fc6bf917a806d4a	The genetic aspects of the primary cardiomyopathies, mitral valve prolapse, arrhythmias and conduction disturbances, long QT syndromes and abnormalities of ventricular repolarization, @PHENOTYPICFEATURE$, coronary artery disease, essential hypertension and @DISEASE$ were examined.	false
+4a33eaa3214dd3d3cd5d37341a912553c8dca3f9	Her substantive health problems affected multiple body systems and included hypothyroidism, congestive heart failure, @PHENOTYPICFEATURE$, and subclinical Cushing's Syndrome, likely related to previous medical therapy (cortisone) for @DISEASE$ in childhood.	false
+da717a68d621833eff0ed95ee6b177a64e996a1e	We found jaundice, anemia, @PHENOTYPICFEATURE$, hyponatremia, hyperkalemia, acidosis, leukocytosis, elevated transaminases (SGOT and SGPT) and cerebral malaria, were significantly associated with @DISEASE$ among patients with severe malaria (p < 0.05).	false
+85535e0f82812206e844c180ef22cf2f64e4c840	These findings suggest that patients with osteosarcoma will probably show a fairly good response to antitumor drugs, and that when @DISEASE$ or leiomyosarcoma tumors show resistance to antitumor drugs, then resection at the time of initial exploration and combined modalities, including radiation and @PHENOTYPICFEATURE$, should be considered.	false
+ffa8cec77c02700ecc386ba5096ef45091fc7ed9	@DISEASE$ associated with @PHENOTYPICFEATURE$ and reversible hepatic dysfunction.	false
+0c8ef5d6b03008c97738ec345d470c7c37f796f8	Special mention deserve the particular cases of malabsorption syndromes that appears in: acrodermatitis enteropathica, dermatitis herpetiformis, @DISEASE$, Cronkhite-Canada syndrome, dermatogenic enteropathy and abnormalities that occur as complication from the surgery treatment for @PHENOTYPICFEATURE$ improvement.	false
+173f7081ed460fa9d8a85dc6048ec79234b31540	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause @DISEASE$ (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/bifid uvula, hypertelorism, @PHENOTYPICFEATURE$, arterial tortuosity, and mental retardation.	false
+485e0f5ee0b80073f88ec8dccd24f4b7ecaa4e69	Thoracic aortic aneurysms (TAAs) have many possible etiologies, including @PHENOTYPICFEATURE$ (eg, bicuspid aortic valves, coarctation of the aorta), inherited connective tissue disorders (eg, Marfan, Ehlers-Danlos, @DISEASE$), and degenerative conditions (eg, medial necrosis, atherosclerosis of the aortic wall).	false
+640f9f0cd735c663fbe36c30f280da20d8a21045	De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with @PHENOTYPICFEATURE$ and @DISEASE$ features.	false
+48cf4eb957d5b91f6713538bf0b8ef703f321842	Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with @PHENOTYPICFEATURE$ and @DISEASE$ features".	false
+aa5473bb2682a4fb8decf9984a0add0ac84eeee3	A mutation in TGFB3 associated with a syndrome of low muscle mass, @PHENOTYPICFEATURE$, distal arthrogryposis and clinical features overlapping with Marfan and @DISEASE$.	false
+645c3ccab1dd03e99dcf0a9b7f1f5d876a4f3422	Because bicuspid aortic valve (BAV) is a @PHENOTYPICFEATURE$ in patients with @DISEASE$, this study was conducted to investigate whether variants in TGFBR1 or TGFBR2 are responsible for sporadic BAV.	false
+14a9d7744dfb1ce24ce337dee445dad1006307f9	Mutations in transforming growth factor beta (TGF?) receptor type II (TGFBR2) cause @DISEASE$, characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+4af908cf4ee8c14f3dad0dd62fc0f1c370e23c84	Our patient is a 45-year-old woman with a history of @DISEASE$, vertebral artery dissection, stroke, prior atrial septal defect repair, and spontaneous left main coronary artery dissection that was revascularized with coronary artery bypass grafting who progressed to end-stage @PHENOTYPICFEATURE$.	false
+e9a99c1511e18cf0a907e3f3781b28ffd13629f8	A new strategy for the genome-wide screening of known causative genes or loci with HH was proposed, as shown the applications to a @DISEASE$ and a @PHENOTYPICFEATURE$ cohort.	false
+3e00664a5a36222a06a3556edf3fc902f0a77844	@PHENOTYPICFEATURE$ and @DISEASE$ with hyperinsulinemia.	false
+112a1a13638de0982302893c4e102cd31f86a648	Tumor involvement of the bone marrow in patients with @DISEASE$ may be suspected in the presence of other manifestations of advanced disease such as fever, lymphopenia, @PHENOTYPICFEATURE$, mixed cellular histologic type, or Stage III or IV disease by other clinical parameters.	false
+2a0fa4e61b911a397040f28e6a2f388737d258bc	Primary diagnoses were?lung cancer (n?=?77), melanoma (n?=?8), head and neck carcinoma (n?=?7), @PHENOTYPICFEATURE$ (n?=?5), @DISEASE$ (n?=?3), urothelial carcinoma (n?=?3) and gallbladder adenocarcinoma, hepatocellular carcinoma and Merkel cell carcinoma (n?=?1 each).	false
+6393c98b481ebf54a129db63b454c6d138d9e67b	By fitting the model to available clinical data for spontaneous background risk together with data of @DISEASE$ survivors (for various organs), the second cancer @PHENOTYPICFEATURE$ rate is estimated.	false
+77a071f00a2adfb821ae4e09ee0f4e49272600af	A total of 6 patients (46%) had breast carcinoma, 3 (23%) had @PHENOTYPICFEATURE$, 2 (15%) had squamous cell carcinoma of the head and neck, 1 had bronchoalveolar carcinoma of the lung, and 1 had nodular sclerosing @DISEASE$.	false
+43c72e46cf341b868f7c9a0644f1f0514f730d0b	A total of 6 patients (46%) had @PHENOTYPICFEATURE$, 3 (23%) had renal cell carcinoma, 2 (15%) had squamous cell carcinoma of the head and neck, 1 had bronchoalveolar carcinoma of the lung, and 1 had nodular sclerosing @DISEASE$.	false
+4107fee1d05c7769eeed5939a37547781b4b46cd	Based on literature reviews, we selected six innovations with proven effectiveness against cervical cancer, @DISEASE$, @PHENOTYPICFEATURE$, testicular cancer, and leukaemia.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+ed92d854c5d59988c455cc31c8af1acce0d4d992	@PHENOTYPICFEATURE$ and elevated serum 1,25-dihydroxyvitamin D3 in a patient with @DISEASE$.	false
+6562bc4d4557f57f90ab94212f2be90e02cf4209	A 78-year-old man with a history of coronary heart disease, class III heart failure, cardiac @PHENOTYPICFEATURE$, long-standing persistent atrial fibrillation (AF), @DISEASE$, and Parkinson's disease presented with weakness, dizziness, presyncope, fatigue, and inability to stand.	false
+f637ba12ad3e2e31a8a0fe67522f6415a48af9ac	Depending on a variety of prognostic factors including age, stage, @PHENOTYPICFEATURE$, and initial response to treatment, from 70% to 90% of patients with advanced-stage @DISEASE$ can be cured with modern multiagent chemotherapy.	false
+09a036294d8915cdc99daa459646fb64fd3a5449	Milia en plaque (MEP) is an unusual and extremely rare clinical variant of milia, characterized by multiple @DISEASE$-like lesions overlying an @PHENOTYPICFEATURE$ edematous plaque with histologic findings consistent with milia.	false
+38ac3dadf06f97b064d88067a3eaeed3ee583ebc	The clinical and electrophysiological evolution of a 24-year-old patient with @DISEASE$-Fisher's syndrome and findings of mild @PHENOTYPICFEATURE$ in the electromyographic study is reported.	false
+8ce7df4c6e1516bf195cb8d72c6a73f8351bd8e5	The present case is a 56 year old male who present hyperpigmented and @PHENOTYPICFEATURE$ scars in both hands, associated with the presence of @DISEASE$ cysts.	false
+7d43fab7a07dc4f45c1d77c82ffc42a0983e9ff6	Patients showed neurological signs as followed: recurring attacks of vertigo (80%), temporary paresis of extremity (20%), @PHENOTYPICFEATURE$ (20%) and subclavian and/or carotic-@DISEASE$ (15%).	false
+1017bdb3d491829903a94d31d1213650663a7f56	Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, @DISEASE$ (PHA) and Greenberg @PHENOTYPICFEATURE$.	false
+e099e49ff487bc2b32d86d8c1e3bf7214164b966	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and @DISEASE$ (PHA).	false
+6844e380b0ce13b297ddf71d676b173a6c767b14	Disorders caused by mutations in genes encoding lamin-associated integral inner nuclear membrane proteins include X-linked Emery-Dreifuss muscular dystrophy, sclerosing bone dysplasias, HEM/Greenberg @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e099e49ff487bc2b32d86d8c1e3bf7214164b966	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and @DISEASE$ (PHA).	false
+67a3acf0ce25ff7ad848bfcdc151eaae978487f0	Recently, EUS has been applied to a number of benign conditions such as achalasia, difficult-to-diagnose @DISEASE$, and submucosal @PHENOTYPICFEATURE$.	false
+bfe334d0a740a63c2c067956c82a5094887c71e6	Pneumonia, renal calculi, upper urinary tract infection, intercostal muscle strain or rib fracture, pancreatitis, @DISEASE$, gastritis, ulceration, esophagitis, infection, @PHENOTYPICFEATURE$, pulmonary embolism.	false
+fd85a25c88a59a1c4f4e88393de84c38407585b9	The rarity of gallbladder cancer coupled with the prevalence of benign @DISEASE$ mean that most patients undergo initial procedures that violate @PHENOTYPICFEATURE$ planes, complicating attempts at future oncologic resection.	false
+6020a8aada5aa4bc248d97e0692540aa91c0698e	Pathophysiology of @PHENOTYPICFEATURE$ progression in human gallbladder: flow cytometry, CEA, and CA 19-9 levels in bile and serum in different stages of @DISEASE$.	false
+6fa2a7444ebb36c0c63d962c35ef405c1796c983	Oral contraceptives and venous thromboembolic disease, surgically confirmed @DISEASE$, and breast @PHENOTYPICFEATURE$.	false
+c9baeb72299cb35d918b0b87b1612b2f3fbfbe41	Pancreatitis, thyroid cancer, @PHENOTYPICFEATURE$, and @DISEASE$ were rarely reported.	false
+4f8c832f2bb3dea65a0769844b29e4a0baf1a1ee	Hyperglycemic crisis can be induced by an infectious disease of the gastrointestinal tract, ulcerative disease, @DISEASE$, pancreas disease, and gastrointestinal tract @PHENOTYPICFEATURE$.	false
+558d14930322e2e38141f75a6929e1b6ff5aa3cc	Evaluation of @PHENOTYPICFEATURE$ vessels on contrast-enhanced harmonic gray scale ultrasonography may be a useful modality for differentiating gallbladder carcinoma from other polypoid @DISEASE$ lesions.	false
+0f3440251f7ecdc95c016f4bfeb707ffbd81c2aa	The first clinical presentation of such an enlargement is likely to differ from any other @DISEASE$, but rather to resemble a @PHENOTYPICFEATURE$ or cyst of the abdominal cavity.	false
+2fd0f72ec903f0f625505e224ed27c22c4413011	The conditions included in this guideline are laparoscopic management of acute appendicitis, acute @DISEASE$ and symptomatic benign adnexal @PHENOTYPICFEATURE$ in pregnancy.	false
+b54efe4e41446813061e5a7491e1f3d302ab32f2	Other entities are symmetrical gingival fibromatosis; @DISEASE$ with bone, ear, nose and nail defects and hepatosplenomegaly; Murray syndrome with multiple hyaline dermal tumors; Rutherfurd syndrome with corneal dystrophy; Cowden syndrome with hypertrichosis, oligophrenia and giant fibroadenomatosis of breasts and Cross syndrome of @PHENOTYPICFEATURE$, oligophrenia and athetosis.	false
+0aaece4287a50d82c87ecd4f3cbd533cebfd68c5	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+be785cd208166c1301bd33c2277d41564683c3d8	The girl had @PHENOTYPICFEATURE$ features (a beaked nose and long face) with normal chromosomal studies, negative fluorescent in situ hybridization study for @DISEASE$ and an absence of signs suggesting Marfan syndrome.	false
+58e5647f7f99496c19735b4af5a0228c6441cfa6	The 22q11.2 microdeletion is associated with a wide range of overlapping phenotypes including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), conotruncal @PHENOTYPICFEATURE$, and sporadic or familial cardiac defect.	false
+dffeb8336a6ff9bffd7c1384f7c194401af32483	Caralluma fimbriata extract has received Generally Recognized As Safe (@DISEASE$) status for use as a nutraceutical to combat the most serious public health concern (i.e., @PHENOTYPICFEATURE$).	false
+da325ea6e1e181634cd4ce6bbfc3fbd55a584302	Conversely, the major chronic diseases have low prevalences among the rural peasantry and tribal groups, with the exception of gastro-@DISEASE$, osteoarthritis and @PHENOTYPICFEATURE$.	false
+a842a170f8f279878f79cd7a9b87de781ee2bbd5	Pleural phenol therapy for the treatment of chronic @DISEASE$ @PHENOTYPICFEATURE$.	false
+7881a27a891f50b697cdede7144f016eb63d4a11	The activity of superoxide dismutase, catalase, glutathione peroxidase and reductase and the level of glutathione, vitamin C, malondialdehyde and cancer procoagulant were determined in tumors and normal mucous from 18 patients with @DISEASE$, 18 patients with @PHENOTYPICFEATURE$ and 62 patients with colorectal cancer.	false
+c2720409c183a86e24bf9337d3b83e7a0a4960d6	The most common underlying cancers were lung cancer (59.2 %), breast cancer (21.2 %), lymphoma/@PHENOTYPICFEATURE$ (5.3 %), and gastric/@DISEASE$ (5.3 %).	false
+0a526cf50408dc102f37323e174a3d48b855405b	Further, the @DISEASE$ patients receiving high-dose chemoradiotherapy had higher intensity of other symptoms like general @PHENOTYPICFEATURE$, insomnia, nausea/vomiting, diarrhea, and constipation compared with the esophageal cancer patients who received surgery alone, head and neck cancer patients, and the general Norwegian population.	false
+f5b6917cfdeee4003ac23f97752d877ef97a2886	Further, the esophageal cancer patients receiving high-dose chemoradiotherapy had higher intensity of other symptoms like general @PHENOTYPICFEATURE$, insomnia, nausea/vomiting, diarrhea, and constipation compared with the @DISEASE$ patients who received surgery alone, head and neck cancer patients, and the general Norwegian population.	false
+58ec76b0a02165778a8cec63594b2d765131909f	Patients' ability to balance was measured by the Berg Balance Scale (@DISEASE$), and severity of @PHENOTYPICFEATURE$ was evaluated by the Modified Ashworth Scale.	false
+31031c01055e7c8bdfcbaa13b82971aa8d7a971f	Renal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+45ff98e2987f5f9091885b0aff8a4933cecf1909	If @PHENOTYPICFEATURE$ and mental retardation present, it fulfills the criteria for @DISEASE$.	false
+455fc364f5c49a05c1ec72281778fd9d57baee8b	Primary outcome was the change in the Berg Balance Scale (@DISEASE$) after 12?weeks, and further outcome measures included fatigue, pain, quality of life, and @PHENOTYPICFEATURE$.	false
+feaa457ff505dd4194da760248bc88eec92850f4	@DISEASE$ with @PHENOTYPICFEATURE$ -a rare association.	false
+58134a1a35c8d0c30cc951f8761eed3571277a2c	In addition, the 17-year-old female patient showed short stature, @PHENOTYPICFEATURE$ in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting @DISEASE$, though polydactyly was absent.	false
+2112eecbefeaf4f58b729c1f30790f6c9ca1fd1c	Five of six families with both MKS1 and @DISEASE$ mutations manifested @PHENOTYPICFEATURE$, a feature that is not a typical component of either syndrome.	false
+0747e542ccc372ffa2a95d836034da1ab5b148e1	Bardet-Biedl syndrome (@DISEASE$) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning @PHENOTYPICFEATURE$, and renal anomaly that are caused by ciliary dysfunction.	false
+cb4b276cdb078cba0f22644f6c4bda1f811baebd	@DISEASE$ (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning @PHENOTYPICFEATURE$, and renal anomaly that are caused by ciliary dysfunction.	false
+f5ce23c8fde3fec668389be3d334fa9ff04838b9	For example, the @PHENOTYPICFEATURE$ observed in RIKEN 4930444A02 knockout mice show similarities to a number of developmental disorders, such as Joubert, Meckel-Gruber, and @DISEASE$, which involve mutations in cilia-related genes.	false
+93251cf339b7c82260cea927f99e021f2058a6d5	Balance (Berg Balance Scale, @DISEASE$), gait (6-Min Walk test, 6MWT; Timed-Up-and-Go, TUG), functional performance (30-s Chair-Stand Test, 30CST), @PHENOTYPICFEATURE$ (Modified Ashworth Scale) and perceived participation (Stroke Impact Scale, SIS) were also determined.	false
+b38a65589953e89abd252e846055ac59fa552e5c	We report a child with @PHENOTYPICFEATURE$, @DISEASE$, and severe mitral valve (MV) regurgitation following neonatal enteroviral myocarditis.	false
+28b7fea6ca199cda5908fae7fc0b90d23de9ef89	@PHENOTYPICFEATURE$, @DISEASE$, and cystinuria were not found in any dog examined for these conditions.	false
+0eddc58f29b7092efeb92da38fd99fa7c413a173	EYA mutations are linked to multiorgan developmental disorders, as well as to adult diseases ranging from @DISEASE$ to late-onset @PHENOTYPICFEATURE$.	false
+425576dfa29371508650deed2d9fb9a2dfff4115	We identified a human mutation that causes @DISEASE$ and heart failure preceded by @PHENOTYPICFEATURE$ (SNHL).	false
+5dcc2bcee570965aab07853e46452608bafe3794	Familial autosomal dominant @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+a3f714361f1c5599d89ec20bf67db9ac50061f80	Other findings were Non @DISEASE$ (6.1%), Hypertrophic cardiomyopathy (5.7%), pericardial diseases (3.7%), Ischemic heart disease (4.7%), Cor pulmonale (1.4%) and @PHENOTYPICFEATURE$ (0.4%) of patients.	false
+d08acd3659fe99e1d4951acc79468df1797db459	Neither angiotensin I nor angiotensin II had any effect in preparations of the left ventricle from patients with idiopathic @DISEASE$, @PHENOTYPICFEATURE$, and incompetence or in patients with no significant heart disease.	false
+4fba048974f9acd2e78fa8a82c6bcbfef53ac693	@DISEASE$ and @PHENOTYPICFEATURE$: a heritable syndrome that maps to 6q23-24.	false
+14b1813ed0c5a7c7af9cc2b85807ede5c885b74c	Mutation in the transcriptional coactivator EYA4 causes @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2d8bdc6a534818e027ab0d8ec539f38838a92033	@DISEASE$ (DCM) and @PHENOTYPICFEATURE$ (SNHL) are prevalent disorders that occur alone or as components of complex multisystem syndromes.	false
+9e26f2ddfe98b47eea6b6361415584d7eeb7cf15	Congenital @DISEASE$ leads to @PHENOTYPICFEATURE$ characterized by small bones, narrow spinal canal, and delayed bone age.	false
+99109f1e7aaf734d5a95f5364f9ebe877c083d35	No members had primary @PHENOTYPICFEATURE$, macular or @DISEASE$ disc hypoplasia, nystagmus, or extraocular malformations.	false
+c628add6ce628ba75ffed740f9b38405484a1f9d	Other ocular findings were: @PHENOTYPICFEATURE$, lacrimal system impermeability, heterochromic iris, @DISEASE$ disk hypoplasia and enophthalmos.	false
+79a4daabb2ed7dac6f6da7be31465d756d7f9c33	@DISEASE$ pathway gliomas (OPG) represent an important cause of @PHENOTYPICFEATURE$ in pediatric population.	false
+1c02ba66b7ffc0c815ee5b8444d554a39f78d2ea	@PHENOTYPICFEATURE$ was diagnosed by the presence of typical @DISEASE$ disk abnormalities, disregarding IOP values.	false
+5cd4df64bdf4e09c53c91525238f09b308ac0b15	A case of superior segmental @DISEASE$ hypoplasia accompanied by a @PHENOTYPICFEATURE$ optic neuropathy.	false
+1e6f2cea9a9b0669dd099c1c5c80dbbb27f28bbf	No double-dissociation between @DISEASE$ ataxia and @PHENOTYPICFEATURE$: multiple sub-streams for multiple visuo-manual integrations.	false
+d07d1698832c534383240adb5f561cb12cc64046	It is concluded that optic ataxia is not a visuomotor deficit and there is no dissociation between perception and action capacities in optic ataxia, hence a fortiori no double dissociation between @DISEASE$ ataxia and @PHENOTYPICFEATURE$.	false
+3735212f3505d090e802e856f97d108d5d2bbffe	It is concluded that optic ataxia is not a visuomotor deficit and there is no dissociation between perception and action capacities in @DISEASE$ ataxia, hence a fortiori no double dissociation between optic ataxia and @PHENOTYPICFEATURE$.	false
+786edb00e8bb27f5bbf80d2c36ffdcb37d36bd5a	It is concluded that @DISEASE$ ataxia is not a visuomotor deficit and there is no dissociation between perception and action capacities in optic ataxia, hence a fortiori no double dissociation between optic ataxia and @PHENOTYPICFEATURE$.	false
+be1ed18d3493126dd38628f36b4d7fb8e4db5551	One patient with chronic panparanasal sinusitis with acute @PHENOTYPICFEATURE$ presented with isolated @DISEASE$ disc edema.	false
+52ce0da0bc7cd23f0ba3562c03afae4e259965ad	Associated abnormalities include @DISEASE$ disc dysplasia, @PHENOTYPICFEATURE$, cortical dysgenesis, mental retardation and epilepsy.	false
+5ad5c761c79d1ae5d06e20aae682ccda58c2cd38	This double historic track allows us to address important issues such as the link between B?lint syndrome and @DISEASE$ ataxia, the alleged double dissociation between optic ataxia and @PHENOTYPICFEATURE$, and the use of optic ataxia to argue for a specific vision-for-action occipitoposterior parietal stream.	false
+64885c5e2597e81e265637366b9ef84b540d69cf	This double historic track allows us to address important issues such as the link between B?lint syndrome and optic ataxia, the alleged double dissociation between @DISEASE$ ataxia and @PHENOTYPICFEATURE$, and the use of optic ataxia to argue for a specific vision-for-action occipitoposterior parietal stream.	false
+c5fea2ba67795e0326fe62c88ce2875063191512	This double historic track allows us to address important issues such as the link between B?lint syndrome and optic ataxia, the alleged double dissociation between optic ataxia and @PHENOTYPICFEATURE$, and the use of @DISEASE$ ataxia to argue for a specific vision-for-action occipitoposterior parietal stream.	false
+74c539bf6438f905065530602540ebafde88a612	@DISEASE$ is a rare X-linked multiple congenital anomaly-@PHENOTYPICFEATURE$ disorder caused by the p.R961W mutation in the MED12 gene.	false
+972536529be0591cf83395737e8ba51fd65b2b3f	@PHENOTYPICFEATURE$ was caused rather by mucoso-fibrotic changes at the borderline between the hypopharynx and the oesophagus, representing the simultaneous presence of the Paterson-@DISEASE$ and secondary Sj?gren's syndrome.	false
+a03351fe151a598243137673a4b675850224029d	The clinical phenotype of @DISEASE$ defines a recognizable pattern of X-linked multiple congenital anomalies and @PHENOTYPICFEATURE$.	false
+00a18bef6da51ec5ddd114042434a4a9a99aad9e	Isolated cortical vasogenic @PHENOTYPICFEATURE$ and hyperintense vessel signs may be early features of @DISEASE$: Case reports.	false
+712f941b178cbcc0fee591d6b93b78200d7d207c	Recurrent thunderclap headache (TCH), and single TCH combined with either normal neuroimaging, border zone infarcts, or vasogenic @PHENOTYPICFEATURE$, have 100% positive predictive value for diagnosing RCVS or @DISEASE$-spectrum disorders.	false
+99e23cc6cedfdcaf347998ad3110eef1f6bf82a0	[Tonsillar hypertrophy, a mass at the splenic head, @PHENOTYPICFEATURE$ and swelling of a lymph node--disappearance of the masses with steroid administration: (@DISEASE$)].	false
+33e4228130ab28af064931b66710243536b6396b	True @DISEASE$ with multiple @PHENOTYPICFEATURE$.	false
+1837d26ba4102afcb637ecaf6a39139dd465d1ba	A 32-year-old woman with @DISEASE$ was in complete clinical remission after two courses of chemotherapy, when @PHENOTYPICFEATURE$ developed fulminantly.	false
+1c56418f1eaac90e7ce652c01f86da91314ccb0a	Deficiency of PGE receptor subtype EP2 selectively reduced, and deficiency of @DISEASE$ and EP3 enhanced, the @PHENOTYPICFEATURE$ formation.	false
+dbe440cb1eb9f93be99548d53efb6df1b6bccbce	Short-term parenteral testosterone replacement significantly improves @DISEASE$ at the hip, lumbar spine and forearm in @PHENOTYPICFEATURE$ young males.	false
+9fb37d45499a1d812444bfc036ce9d95fe121ebc	They had extremely thin and bulging corneas, velvety skin, chestnut colored hair, scoliosis, reduced @DISEASE$, @PHENOTYPICFEATURE$, hearing loss, and minor cardiac defects.	false
+a0decff74e63c2c6d61059411c6648ab454fb528	However, as demonstrated in this review, decreased @DISEASE$ and osteoporosis are multifactorial processes, and @PHENOTYPICFEATURE$ and functions are not limited to BMD.	false
+48b1c4d867cd659192a1410131717deeff31e4ac	However, as demonstrated in this review, decreased BMD and osteoporosis are multifactorial processes, and @PHENOTYPICFEATURE$ and functions are not limited to @DISEASE$.	false
+7ac549a69c0a088016e25dc4679f1dab4e1f5991	To assess bone mineral density (@DISEASE$) in girls with menstruation disorders in the first years after menarche and to demonstrate that BMD value may be one of the indicators confirming an early diagnosis of hypothalamic @PHENOTYPICFEATURE$ or androgenisation complex.	false
+81a5a5e4002282163027696f89f3787b7ea6aeda	To assess bone mineral density (BMD) in girls with menstruation disorders in the first years after menarche and to demonstrate that @DISEASE$ value may be one of the indicators confirming an early diagnosis of hypothalamic @PHENOTYPICFEATURE$ or androgenisation complex.	false
+33da35ec0c1ae3673549a29f7832988f96fb59ce	Testosterone replacement therapy improves @DISEASE$ in young @PHENOTYPICFEATURE$ men.	false
+68b989bff16d98481d9722e82ce5ef9b9f1f87ce	There was a similar trend towards lower @DISEASE$ in uncontrolled hyperparathyroidism, hypercortisolism, @PHENOTYPICFEATURE$/GH deficiency and the state after surgery at the upper gastrointestinal tract.	false
+9fc4d1c65ffaa8a37529afec39c9b745f275cbdd	Untreated patients affected by central @PHENOTYPICFEATURE$, despite similar hormonal levels, displayed significantly lower @DISEASE$ and decreased LH and 25-OH vitamin D levels, compared with patients with primary hypogonadism.	false
+14345d5e987dfbaf6699206a7e0f79a2bc481294	The treatment effect was consistent regardless of @DISEASE$, age, height, weight, body mass index (BMI) and @PHENOTYPICFEATURE$ status at baseline.	false
+feb317cd2542b9d285b6f6ba902c2af561832ca1	@PHENOTYPICFEATURE$ was present in 27% of nonmenopausal subjects and was associated with reduced lumbar spine @DISEASE$ in subjects 30 years or older.	false
+3a478d590c5221b7fc328d99fd58a76bb5ba793f	@PHENOTYPICFEATURE$ is significantly associated with lower @DISEASE$ in postmenopausal women.	false
+cea3ce3117bbf5823cf4608d14b0e4a0412e53b5	In this respect, SNP can be used effectively for severe cases of heart failure intractable to traditional cardio-stimulatory and diuretic treatments and stemming from diverse causes: acute stage of myocardial infarction, ventricular dilatation, mitral @DISEASE$, @PHENOTYPICFEATURE$, either subacute or chronic, of various causes.	false
+98f3568bba9a3c9cfa66233847740bd3c97999c6	The association of optic nerve and @PHENOTYPICFEATURE$ should lead to the suspicion of @DISEASE$ with PAX2 mutation.	false
+901971f3a2e68a4c89bd52859cee42bbbc6240fc	@DISEASE$ (RCS) is considered to be a rare autosomal dominant inherited disorder characterized by @PHENOTYPICFEATURE$ and optic disc coloboma.	false
+065bcdcbe54cefb754b7ed8c5991e19bd1c5cb57	@DISEASE$ is an autosomal dominant entity due to PAX2 gene mutation, involving optic nerve and @PHENOTYPICFEATURE$.	false
+75d2bdacb83bed8fcebbb58509d739f69cb2914a	@DISEASE$, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and @PHENOTYPICFEATURE$.	false
+4cc3fff62bfe1cd5c086576747e3909082b8299a	Renal coloboma syndrome, also known as @DISEASE$ is an autosomal-dominant disorder characterized by ocular and @PHENOTYPICFEATURE$.	false
+1a672a2514f54a4cefd05a66c5ea033c500a4451	@DISEASE$ (GAN, MIM: 256850) is characterized by an early onset of severe @PHENOTYPICFEATURE$, varying central nervous system involvement and strikingly frizzly hair.	false
+7d5db4167f8ca541cfc9b32626bc65541d62d731	@DISEASE$ (GAN), a chronic @PHENOTYPICFEATURE$ with associated Central Nervous System dysfunction and tight curly hair, is described in a 17-year-old girl.	false
+0306dbb43ee456d2ad30085fc8d151887c0a4a43	Genome-wide screen identifies drug-induced regulation of the gene @DISEASE$ (Gan) in a mouse model of antiretroviral-induced painful @PHENOTYPICFEATURE$.	false
+e5216a7688ea23a0aa2af85e8ff7abd00730012d	Clinical and morphological aspects of this new disease entity are discussed with regards to the classical form of @DISEASE$ and to other conditions of @PHENOTYPICFEATURE$ with giant axons.	false
+f3db3d3a3a009a24cc0ac6b5709d1ee4905400f8	@DISEASE$ (GAN, MIM: 256850) is a devastating autosomal recessive disorder characterized by an early onset severe @PHENOTYPICFEATURE$, varying central nervous system involvement and strikingly frizzly hair.	false
+6e83204f6d5daf36e3325df870f9e90f9c94beab	@DISEASE$ (GAN), a progressive childhood disorder of intermediate filaments (IF), is characterized by a @PHENOTYPICFEATURE$ and central nervous system involvement.	false
+08617f388552c6c9f9ca0d844094c8997fe03b6d	@DISEASE$ (WS) is a neurocristopathy characterized by pigmentation @PHENOTYPICFEATURE$, hair, and iris, as well as sensorineural hearing loss.	false
+81f0968990c7454a58b2a67debb84fccf1529dee	Interstitial deletions in this region result in the @DISEASE$ (WS1), but have not been associated with @PHENOTYPICFEATURE$ (NTDs).	false
+c232ffb2830bf7c26862bbb833536e3027400a90	[A Swiss family with Klein-@DISEASE$ associated with @PHENOTYPICFEATURE$ of the palms and feet and with serious oligophrenia].	false
+cc3fb0e6c43c22ff70466f85c36e6c2fd08ca702	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (@DISEASE$), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with anosmia or @PHENOTYPICFEATURE$.	false
+65568d7bd84bfba135764b3e7cfd3097b9b00274	Six outcomes associated with use of antipsychotics included: diabetes, obesity, hyperlipidemia, hyperprolactinemia, cardiovascular disease (CVD) (including hypertension, @PHENOTYPICFEATURE$, and other CVDs), and extrapyramidal symptoms (@DISEASE$) (including dystonia, akathisia, parkinsonism, and tardive dyskinesia).	false
+51009f1fca767dc9c21ce59857aa7c31347dde37	Six outcomes associated with use of antipsychotics included: diabetes, obesity, @PHENOTYPICFEATURE$, hyperprolactinemia, cardiovascular disease (CVD) (including hypertension, ventricular arrhythmia, and other CVDs), and extrapyramidal symptoms (@DISEASE$) (including dystonia, akathisia, parkinsonism, and tardive dyskinesia).	false
+2188be8ea815ffe4c1bcfded16aa7b429ae96e88	In a large population of patients hospitalized for @PHENOTYPICFEATURE$, blacks had significantly lower rates of utilization for @DISEASE$ and ICD procedures and higher subsequent mortality rates.	false
+331e3351bb3b5a43bf789d4d9c4fdd7c19090467	Pre- and postoperative electrophysiologic study (@DISEASE$), intraoperative cardiac mapping, and extended endocardial resection of scar (EER) has enabled us to identify subgroups among 94 patients who have had operation to control or prevent malignant @PHENOTYPICFEATURE$.	false
+7d2559af5a28ff996613a9d03b066bd759cc9f8f	MTWA may be considered as a first-line screening test for patients with @PHENOTYPICFEATURE$ history, in order to discriminate the high risk / low risk subgroups, prior to invasive @DISEASE$ and/or treatment.	false
+78e49812049f32204d155c97c4727619206d746d	All patients underwent electrophysiological study (@DISEASE$) with induction of sustained @PHENOTYPICFEATURE$ ICD implantation.	false
+14ab726957302fad9755dde050d0c15d4f4a970b	The EF also emerged as a predictor of induction of VT / VF: for each point increase in EF, there was a 4% reduction in the rate of sustained @PHENOTYPICFEATURE$ on @DISEASE$.	false
+75dfb71c3b36cf2a3e24644cca06f0fe90e3a523	We analyzed 75 @DISEASE$ patients with @PHENOTYPICFEATURE$ and reduced growth velocity.	false
+1306785ae67a147e9b2913dfdb428bbcacbfff0c	The aim of our study was to assess the effectiveness of the nonlinear analysis (NLA) of ECG in predicting the results of invasive electrophysiologic study (@DISEASE$) in patients with @PHENOTYPICFEATURE$.	false
+685a02f557ca2ddc7313b400b78ab1313853322a	No significant difference was observed between suppression of spontaneous @PHENOTYPICFEATURE$ on Holter monitoring and suppression of inducible ventricular arrhythmias by electrophysiologic study (@DISEASE$) in terms of the ability to predict the success of drug therapy.	false
+4079c149f226054bf71f38fdc10978684bfcba80	Patients chose between competing hypothetical scenarios characterized by improvements in positive symptoms, negative symptoms, and social functioning; incidence of weight gain, extrapyramidal symptoms (@DISEASE$), hyperprolactinemia, and @PHENOTYPICFEATURE$; and medication formulation.	false
+a1191539a07242cca7fa4dc50049acda8c52e9b2	@DISEASE$ with significant thrombocytosis is associated with serum hyperkalaemia and @PHENOTYPICFEATURE$.	false
+ac6d7664720fbf799e94b7625208627f05484f4a	The study involved 110 cases of Philadelphia negative Myeloproliferative diseases (MPDs), 70 cases with Polycythemia Vera (PV), 24 cases with @DISEASE$ (ET) and 16 cases with Idiopathic Myelofibrosis (IMF) and 20 cases as a control group which represented as; (10 cases with secondary erythrocytosis, 1 case with reactive thrombocytosis, 4 cases as normal control and 5 as Philadelphia positive @PHENOTYPICFEATURE$ cases), they were collected from National Cancer Institute (NCI) over 3 years.	false
+df5eea59be76d00d40393b56f4a32a7c6abc78ef	The results indicated that CML mimicked @DISEASE$ (ET) at presentation was relatively rare and might be misdiagnosed as ET, bone marrow smear and biopsy revealed, marked thrombocytosis and moderate @PHENOTYPICFEATURE$; RT-PCR, FISH and conventional chromosomal analysis demonstrated the existence of Ph chromosome and bcr/abl fusion gene.	false
+530ff5b8e9afad009f3db01b78236f7958a4f17a	@PHENOTYPICFEATURE$ and thrombosis in @DISEASE$ and polycythemia vera: a systematic review and meta-analysis.	false
+9dfa0f127137a4db671d3a1f385a363a880383d1	@PHENOTYPICFEATURE$ in a boy with atypical @DISEASE$ syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.	false
+953279514d4c8558a30d376001a5d5e788f54f81	Mulvihill-Smith syndrome is a rare @DISEASE$-like disorder with characteristic findings including premature aging, @PHENOTYPICFEATURE$, pointed face and multiple melanocytic nevi.	false
+5bdddd80ed763349d6b8687e0e056d5dda14cf6c	The involvement of rodents in some other diseases, such as leptospirosis, American trypanosomiasis, South American @DISEASE$, and vesicular @PHENOTYPICFEATURE$, is less well understood.	false
+3b6567cd3f5446645c5c52f8ff96665099be28f5	The @DISEASE$ may be caused by basal @PHENOTYPICFEATURE$ and contribute to the development of glucose intolerance.	false
+8e009d6c4a378c9cb54e22feea3350f904be52f2	@DISEASE$ (OI) is generally caused by a dominant @PHENOTYPICFEATURE$ in Collagen I, encoded by the genes COL1A1 and COL1A2.	false
+b58c30245fd18a0beb97637a34011a0ba23bbb0d	@DISEASE$ is a rare disorder of connective tissues and presents multiple challenges, including difficult airway, @PHENOTYPICFEATURE$, coagulopathy and respiratory dysfunction, for anesthesiologists, especially during cardiac surgery.	false
+d800fcd0d352f6481b97e5e3d6ba7fa2df965b83	A syndrome of @DISEASE$, @PHENOTYPICFEATURE$, retinopathy and severe developmental delay in two sibs of consanguineous parents.	false
+a68528fc361ec377d2b08551798cd9270a9ab4fa	@DISEASE$ is caused by dominant autosomal @PHENOTYPICFEATURE$ in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure.	false
+6ab773a3becf84d590119fd57363e6af3c64f5fe	@DISEASE$ (OI) types V and VI are caused, respectively, by a unique dominant @PHENOTYPICFEATURE$ in IFITM5, encoding BRIL, a transmembrane ifitm-like protein most strongly expressed in the skeletal system, and recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF).	false
+f6940dd03264643468c8940ca363311c0d5cf48b	This case is unique in two aspects; first, the finding of @PHENOTYPICFEATURE$ via CT of the brain in patients with @DISEASE$ has rarely been reported in the literature.	false
+525d13bd6c241125697ef275c45586830c378752	@DISEASE$ is an autosomal dominant form of @PHENOTYPICFEATURE$ (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease.	false
+40742e1797821596a298eaa38157ffef28257d1f	@DISEASE$ (SCA28) is an uncommon cause of dominant @PHENOTYPICFEATURE$ among Chinese kindreds.	false
+26e435619814a638b92f296d0c5922d49d4f659e	Whole-exome sequencing identified a novel, heterozygous p.(Gly671Trp) mutation in the AFG3L2 gene encoding an mt protease--previously associated with dominant @DISEASE$ disease--in a patient with indolent @PHENOTYPICFEATURE$ and PEO.	false
+3754892d1de5b71f69b4fecd7d352ee84668a5ef	After metacarpal lengthening, pinch function was improved in seven out of eight patients with either transverse deficiency or @DISEASE$, and aesthetic improvement was achieved in three patients with @PHENOTYPICFEATURE$.	false
+5f94a36173ec62005473ca370abeda94e8b467bf	The occurrence of @DISEASE$, tuberous sclerosis, and astrocytoma is unique, and supports the suggested relationship between neural crest tumors and @PHENOTYPICFEATURE$ syndromes.	false
+f53758be3da943e62ed192f845c66e2e9bd9ede0	The topics covered include fetal diaphragmatic hernia, oligohydramnios-induced pulmonary hypoplasia, renal dysplasia, prune belly, gastrointestinal obstruction, @PHENOTYPICFEATURE$, Wilms' tumor, and @DISEASE$.	false
+8ae2e74f1dc3a05d9aad0b5fd0870962ac9adb2c	We represent a rare case of @DISEASE$ which arose from the right adrenal gland and infiltrated the adjacent liver substance mimicking mesenchymal @PHENOTYPICFEATURE$ of the liver.	false
+d374622d70151ff7c20cca93a4201a7a3ce83f60	Severe muscle weakness secondary to paraneoplastic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+699b17473b4be3d529361c120eb74be692143cc6	Diseases of these patients were hepatoblastoma, @DISEASE$, @PHENOTYPICFEATURE$, and liver abscess.	false
+641d82416169b12cfd627c5c1c10bb6c629929af	Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to cystathioninuria in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0e4c87126697724c6f56ebfe4dc5c01472118156	Secondary cystathioninuria was found in @PHENOTYPICFEATURE$, cytomegalovirus infection, @DISEASE$, vitamin D intoxication and hyperglycinemia.	false
+c2198503da01d3fc1a7303a8a7be35228a968647	The other lesions successfully resected included osteoblastoma, @PHENOTYPICFEATURE$, Brodie's abscess, chronic bone infection, ectopic parathyroid adenoma and metastatic @DISEASE$.	false
+dee353d426db1e9d5ce1829e7c254d981a7c437f	All patients were diagnosed with NBD, which was the result of myelomeningocele in 9, sacral agenesis in 2, lumbosacral lipoma in 1, multiple @PHENOTYPICFEATURE$ in 1 and spinal @DISEASE$ in 1. Main indications for surgery included urinary incontinence in 11 cases and high pressure/low capacity bladders with vesicoureteral reflux and impending renal damage in 8.	false
+07e00af5fbbcd1c7a7a0abee537d5bf4bd75b446	Duplication cysts (without associated cervicodorsal @PHENOTYPICFEATURE$) were present in 2 patients and @DISEASE$ in the third.	false
+28cabdb3cb5426ab28e30db584500cd56da5a63e	Based on the current findings the case was diagnosed as @DISEASE$ associated with interstitial @PHENOTYPICFEATURE$.	false
+8a1b8f7cf0f5b766df3c3beb4760b0d0a95ed8f6	IgG anti-caspase-8 PD Ab levels in patients with SSc, @PHENOTYPICFEATURE$, or @DISEASE$ were higher than in normal controls (CTL).	false
+5746f95a58f5dcad1967ffafa229ce01a5a54bef	We investigated the outcome of 12 patients with interstitial @PHENOTYPICFEATURE$ (IP) associated with polymyositis and @DISEASE$ (PM/DM).	false
+41d6641511c0f2537971c1fccd8adcd4938681f8	@DISEASE$ as the first manifestation of a @PHENOTYPICFEATURE$.	false
+4ad173b5f61686a49a2dfcb2183e26e24ccaab61	Interstitial @PHENOTYPICFEATURE$ and pneumomediastinum are common thoracic manifestations of dermatomyositis, but chylothorax complicated with @DISEASE$ is not reported.	false
+20abeefbb857a7e3b4529dead6ff3b1f48350838	Interstitial @PHENOTYPICFEATURE$ and pneumomediastinum are common thoracic manifestations of @DISEASE$, but chylothorax complicated with dermatomyositis is not reported.	false
+379a31161ef3713655722737df83920f65d097ad	Notably, these neoplasms shared significant associations with 5 ADs (immune thrombocytopenic purpura, polymyositis/@DISEASE$, rheumatoid arthritis, Sjogren syndrome and @PHENOTYPICFEATURE$).	false
+18f5f22bd54f972822016acfff32dfb4bc126d72	A 54-year-old female with @DISEASE$ treated with cyclosporine and methylprednisolone presented with multiple @PHENOTYPICFEATURE$ on her upper and lower extremities on December 2011.	false
+9b44f790432e7de67575dd8f31dd8ce04a600c79	A boy with @DISEASE$ which began at the age of one year and five months showed multiple migratory @PHENOTYPICFEATURE$, which have seldom been described.	false
+d9ab6156db131c6ced14fc0c85ea765b51a1cb57	Gender and underlying diseases affect the frequency of the concurrence of adult polymyositis/@DISEASE$ and interstitial @PHENOTYPICFEATURE$.	false
+a6d1e41c8eb3e339528fdf1fbd162d3bc8c5db1f	Panniculitis is a rare cutaneous manifestation of @DISEASE$ (DM), typically presenting as tender, erythematous @PHENOTYPICFEATURE$.	false
+0502687cfbd258c6283cec8514f09ea1f3971b4f	These disorders include @DISEASE$, expansile skeletal hyperphosphatasia, @PHENOTYPICFEATURE$ generalisata with striations, and Camurati-Engelmann's disease, type II.	false
+c2fa098225f85c424c65133c395defa1c9732c4f	@DISEASE$ syndrome is a rare, @PHENOTYPICFEATURE$ characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs.	false
+ef3f7248b8bfb83a47d1b12ff66903541b352a0f	Additional information via three-dimensional volume acquisition, like craniofacial deformities, clefts, @PHENOTYPICFEATURE$, abdominal wall defects and @DISEASE$ syndrome, could be documented in 23/107 cases (21.5 %).	false
+f078eb685dacba2450cf4a0f58b70144b5a8f4f8	Of those with glial tissue, the eight without Arnold-Chiari malformation were myelocystocele associated with cloacal exstrophy (six), @DISEASE$ syndrome (one), and @PHENOTYPICFEATURE$ (one).	false
+ecce386782da51e82880cfac73da34f3fca29e96	The authors report an unusual manifestation of corneal involvement in a 10-year-old girl with @DISEASE$ who presented with unilateral peripheral ulcerative @PHENOTYPICFEATURE$ during arthritis exacerbation.	false
+5d1c03265f37578e24ef64c96fb18ae76dadf509	Peripheral ulcerative @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+aad68fd96d43cab454ca9586bdac782cb8c9360c	A sixteen-year-old girl with @DISEASE$ diagnosis developed a progressive multiorgan failure including acute respiratory distress (ARDS), @PHENOTYPICFEATURE$ and thrombopenia, elevated liver enzymes, renal failure, coagulopathy with hypofibrinogenemia, and acute phase reactants elevation despite broad-spectrum antibiotics.	false
+418f51d9f6790d3d11a6ce8e8b3fee2cbbfc83c3	We investigated data of patients with sole FCD lesions regarding long-term @PHENOTYPICFEATURE$ outcome and different characteristics of @DISEASE$ type 1 and type 2 patients.	false
+5c0ae624679e383c767cc49f692042e65e246ab8	We investigated data of patients with sole @DISEASE$ lesions regarding long-term @PHENOTYPICFEATURE$ outcome and different characteristics of FCD type 1 and type 2 patients.	false
+355db93827fdf4c336fd9210e4a5288652db6017	@PHENOTYPICFEATURE$ outcomes were compared between, patients with rolandic FCD and non-rolandic frontal @DISEASE$.	false
+cdc771d859f0878266f9baafa441d832d9eb04be	@PHENOTYPICFEATURE$ outcomes were compared between, patients with rolandic @DISEASE$ and non-rolandic frontal FCD.	false
+0bff9e5529cb6acaf25ef2e693a6e71121c2f411	The predictors of @PHENOTYPICFEATURE$ freedom after surgical management for @DISEASE$ are still unclear.	false
+4de0eff7c8a65c344e8c5b9cd66b4868fa133489	Six different @PHENOTYPICFEATURE$-onset patterns can be described in @DISEASE$ and NDT.	false
+05df7340982dd589455913916e32a4e2f7856f6d	Various factors influencing postsurgical @PHENOTYPICFEATURE$ outcome in pediatric patients with @DISEASE$ have been reported.	false
+c01aa88de3ad1c66dce3063951bfddc1a20a3b1b	No correlation between histopathological @DISEASE$ subtype and @PHENOTYPICFEATURE$ outcome was observed.	false
+c6511d6a9d451616ff227f6b40b8fa5122bcc89b	Therefore, @PHENOTYPICFEATURE$ outcome after surgery for @DISEASE$ should be analyzed carefully considering cohorts' characteristics.	false
+d43f5bdb64085f9c31dd27a5ad6bb08f522cb818	Patients with @DISEASE$ IIB had also significant better @PHENOTYPICFEATURE$ outcome compared with patients diagnosed as having FCD IIA (82% vs. 28%, P < 0.02).	false
+52ba8c74af2ceaddd9bf5ffce26e58f699c44a13	Patients with FCD IIB had also significant better @PHENOTYPICFEATURE$ outcome compared with patients diagnosed as having @DISEASE$ IIA (82% vs. 28%, P < 0.02).	false
+ec03bba95be420706f77b49966027e56504afc9a	In @DISEASE$, @PHENOTYPICFEATURE$ freedom after 1 and 2 years was 85%.	false
+69310fac10e365131c8eaacb9454f3929ba97a12	All but one patient with @DISEASE$ who underwent total lesionectomy became @PHENOTYPICFEATURE$ free.	false
+7f3d5d190d9668350dac5bd6757ca715814c9f93	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+20d0ad0c84da7af476de8bd8f3d5f8442c96e04b	@DISEASE$ and @PHENOTYPICFEATURE$ in three children suggest that infantile FSHD is not a genetically separate disorder from FSHD.	false
+f35c6236bc9f3d85874eb690983327091e750fa8	Cigarette smoking is associated with @PHENOTYPICFEATURE$ (@DISEASE$) and increased fracture risk.	false
+d605385ee6fdb83b06d0f2fec2730768b55bbe65	Previous studies have revealed that thalassemia is associated with @PHENOTYPICFEATURE$ (@DISEASE$) and fractures.	false
+0bd2f6cd9bea2cafd66d899f454faeeb4253e16d	@PHENOTYPICFEATURE$ and cortical @DISEASE$.	false
+0f6c3b478696728dc50dc4c9b275093590f290fa	Low vitamin K may be associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1b23b8487f6f1f8164a1b33859164f95033308f0	Haemophilia A and B are associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+5eac37eb7ae03f43b6952a59b885c9ef3bf5e6d2	Here, we examine whether these markers are associated with @PHENOTYPICFEATURE$ (@DISEASE$) individually and together.	false
+04aee3eecd0daa25baa14c6098033e2fec88d491	Osteoporosis associated with @PHENOTYPICFEATURE$ (@DISEASE$) and microarchitectural changes puts patients at an elevated risk of fracture.	false
+d78b01bf798294151c8ee8fe1fdebd6cbc2e3ac0	We hypothesized that VLBW is associated with @PHENOTYPICFEATURE$ (@DISEASE$) in adulthood.	false
+71a647217a48501bbd98f6dadd55fb2b97b3e998	However, DM1 is associated with @PHENOTYPICFEATURE$ (@DISEASE$), whereas patients with DM2 generally have normal or increased BMD.	false
+67b48007fa066fc11041acc4075491710b8f91bc	However, DM1 is associated with @PHENOTYPICFEATURE$ (BMD), whereas patients with DM2 generally have normal or increased @DISEASE$.	false
+eac0f4fd19c3d9ae55f54250b56b59bb327d42b0	Whether exposure to passive tobacco smoke is associated with @PHENOTYPICFEATURE$ (@DISEASE$) is unknown.	false
+aa94596ea630d732af7b27f2d5e86a757a903ee9	[Clinical and genetic analysis of @DISEASE$ caused by PUF60 de novo @PHENOTYPICFEATURE$ in a Chinese boy and literature review].	false
+fbb56dd550b8ccb813d2a3dcc86de6e88afe04f2	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and @DISEASE$, whereas low iFGF23 levels are found in the hyperphosphatemic disorder familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperostosis syndrome.	false
+15d1d3cbe39d47b94b67594026eb5752295204ba	Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause @DISEASE$ and seven substitutions to cause autosomal recessive @PHENOTYPICFEATURE$ familial tumoral calcinosis (HFTC).	false
+2ba050c7608b0dfe1b3504d88362862479ba1015	To assess the diagnostic potential and accuracy of @DISEASE$ in the diagnosis and management of visceral artery stenosis in young patients with @PHENOTYPICFEATURE$.	false
+95892b29f0df14eb44148932c026e13492828fa0	Popliteal pterygium syndrome shares features with van der Woude syndrome but, in addition, is characterized by @PHENOTYPICFEATURE$, @DISEASE$ of fingers and toes, and toenail dysplasia.	false
+54bd1eeb7f53ef2671c2f2915ce5b4ceff7192df	Fraser syndrome (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+bf3ddc062daf982ceee685c9e01fd2bd4643ce04	An 8-month-old boy with @PHENOTYPICFEATURE$, microcephaly, developmental delay, and @DISEASE$.	false
+bcdfbeaf5de2978952bed7f69d4525591447b6dc	The clinical, genetic, radiological and dermatoglyphic findings of a case showing generalized microdontia associated with an extra maxillary central incisor, hypoplastic maxilla, prognathic mandible, wide-set of the ears, hooked nose, astigmatism, camptodactyly, @PHENOTYPICFEATURE$ of the distal interphalangeal joints of the fingers, thinning of the fingers towards the distal end of the palm, and complete webbing of the IVth and Vth toes (@DISEASE$ type III) and short stature were presented.	false
+3a7f25fbcd3c4202226d623f246d8f71898976de	Fraser syndrome is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cc774460859593063bc83f0ef4037006edcd325b	The main clinical manifestations are popliteal webbing, cleft lip, @PHENOTYPICFEATURE$, lower lip pits, @DISEASE$, and genital and nail anomalies.	false
+e1894f783cfcf607a5a9ced764197f1c451bb5c2	We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, @PHENOTYPICFEATURE$, soft tissue @DISEASE$ of fingers and toes, and moderate to severe mental retardation.	false
+2f36aa1baf033b8c327ad91bf9fc8dd14ecc886b	It is a congenital malformation syndrome affecting the face, limbs, and genitalia with highly characteristic features, including popliteal webbing, @PHENOTYPICFEATURE$ (with or without cleft lip), lower lip pits, @DISEASE$, and genital and nail anomalies.	false
+62f41fa213341ae66b8f78f329d23f74cc4bc6b1	Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ea490bc46201ebc5bcb2873bca919ff4ddeb1608	The malformations present were facial dysmorphisms, @PHENOTYPICFEATURE$, congenital heart disease, genitourinary abnormalities, and @DISEASE$ of the toes.	false
+5a71a04e4d9b6a01a530a6649956d66b79dd409a	@DISEASE$ features craniofacial and @PHENOTYPICFEATURE$, cognitive impairment, and neurobehavioral abnormalities.	false
+6a8c080f5606afe3cf638384448741d71a13af6a	Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, @DISEASE$, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, @PHENOTYPICFEATURE$, fragile X syndrome, Rett syndrome, Cornelia de Lange syndrome, and Down syndrome.	false
+0a581fb06cd43ab3f6c52aee16066faf4b4abe23	@DISEASE$ (SMS) is a complex disorder that includes mental retardation, craniofacial and @PHENOTYPICFEATURE$, and behavioral abnormalities.	false
+bfcb9f32448368ec6941ea88f695089bcc958396	@DISEASE$ (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural abnormalities, including self injurious behaviours, sleep disturbance, and distinct craniofacial and @PHENOTYPICFEATURE$.	false
+d85ca22eb75975d9dd68e1e7542367f7f5e42602	@DISEASE$ (SMS) is a complex neurobehavioural disorder characterised by intellectual disability, self-injurious behaviours, sleep disturbance, obesity, and craniofacial and @PHENOTYPICFEATURE$.	false
+6fd3d46cc3bca4808b92cd767e4c555ec89e8493	Comorbidities, which were multiple in some subjects, included anxiety (8/15), attention deficit disorder (10/15), nonspecific developmental delay (6/15), @DISEASE$ (1/15), @PHENOTYPICFEATURE$ (1/15), narcolepsy (1/15), idiopathic hypersomnia (1/15), and Moebius Syndrome (1/15).	false
+d0a706f1dcf61466c24275477bb824ef9891e800	This paper describes several genetic diseases consistently associated with @PHENOTYPICFEATURE$ (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, @DISEASE$, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them.	false
+f69ce28482db229e561857550605fba62e1acc8b	@DISEASE$ (JIA) is the most common pediatric rheumatic disease and a leading cause of childhood @PHENOTYPICFEATURE$.	false
+b1b9233111a4ddc0a77a332fde76154fda3535b1	Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c7bd0c7da36836ca94b5bca11c5273460d8f15a9	We report on a patient with @PHENOTYPICFEATURE$, dysmorphic features as well as @DISEASE$.	false
+fcbf7a5b8c4b724f0dbf221d8415715d2c8d8560	@DISEASE$ (JIA) comprises several clinically distinct subgroups and is the most widespread cause of chronic childhood @PHENOTYPICFEATURE$.	false
+4cf7c83e237447c79ebeb60b320afef5fba5d480	Cherubism, gingival fibromatosis, epilepsy, and @PHENOTYPICFEATURE$ (Ramon syndrome) with @DISEASE$.	false
+3d9c36438483f2e3d72473bcfa991f47298bc152	@DISEASE$ (JRA) is the most common pediatric rheumatic disease and is a leading cause of childhood @PHENOTYPICFEATURE$.	false
+bca416021180357f919e694f363bb8088145119d	@DISEASE$ (JIA) is a rare, but severe cause of childhood @PHENOTYPICFEATURE$.	false
+09a0aed7493f3aebdb138d8d788cb7abf1c56f01	Physical @PHENOTYPICFEATURE$, articular, and extra-articular damage in patients with @DISEASE$.	false
+d708beedb4a8923581bf87b4f5df60b79a2603f8	A child with @PHENOTYPICFEATURE$, cerebral palsy and @DISEASE$: rehabilitation challenge.	false
+2e62db18e1d3595d1d8234865fde60f4e81f2b21	@PHENOTYPICFEATURE$, septic arthritis, and @DISEASE$ are the primary alternatives that should be precluded before making a diagnosis.	false
+6e2f0fb2759ea066bd54155dddcda6f01df7f56f	The following risk factors were associated with GS formation: age (p = 0.002), family history of GS (p = 0.011), early @PHENOTYPICFEATURE$ onset (p = 0.003), and @DISEASE$ (p = 0.011).	false
+7f5d7630d6a1fd456b22a4718cc09194c31ce18d	A comparative evaluation is reported of pro-oxidant states in 82 patients with @PHENOTYPICFEATURE$ telangectasia (AT), Bloom syndrome (BS), Down syndrome (DS), @DISEASE$ (FA), Werner syndrome (WS), and xeroderma pigmentosum (XP) vs 98 control donors.	false
+a6b6d2e992e5ab3c39d5c7746737ecffe7ad0623	However, our current knowledge of mechanisms resulting in increased frequency of chromosome breakage and cancer susceptibility in @PHENOTYPICFEATURE$-teleangiectasia, @DISEASE$, Bloom's syndrome, and similar conditions are still very incomplete.	false
+18e7288a142f54e53efbdcfafd3d5092741ac12e	@DISEASE$ (FA) group C and @PHENOTYPICFEATURE$ telangectasia, were continuously exposed to extremely low frequency magnetic field (ELF-MF).	false
+3637b9ade01b656f173cd91493aa5f524cdba737	In addition, disruption of iron regulation plays a key role in the etiology of Alzheimer's disease, Parkinson's disease, Huntington's disease, Friedreich's @PHENOTYPICFEATURE$ and other neurological disorders, cancer (lung cancer, breast cancer, colon cancer), @DISEASE$, stroke and ageing.	false
+d4c715ce1af08c9462965ae4f52218fec7dfb463	Retrospective analysis of "routine" chromosome preparations from 2 patients with @DISEASE$ and 2 others with @PHENOTYPICFEATURE$-teleangiectasia showed increased chromosome breakage and a tendency to premature centromere division (PCD) with special reference to early separation of the large acrocentric (13-15) chromosomes.	false
+9523a033e7081289014d3492c1b206c239e3c1a8	@PHENOTYPICFEATURE$ telengectasia, @DISEASE$) is well established.	false
+92f09a45a8014bd684df8e5b80c11d45ba242f05	Fibroblasts derived from patients with diseases affecting DNA repair processes, such as Xeroderma Pigmentosum (classical and variant), @DISEASE$, Bloom's syndrome, @PHENOTYPICFEATURE$ Telangiectasica, Progeria and Werner's syndrome, were assayed for the three DNA polymerases.	false
+20085f68578d025821b1119ff3b6105a950f8c91	We present a fourteen and half-year-old girl with @PHENOTYPICFEATURE$ and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and @DISEASE$.	false
+d4b244fb6ea9e5597e22e48eb4e00cc0aac954a7	@PHENOTYPICFEATURE$ may be one of the clinical signs for severe @DISEASE$.	false
+bc159f96dac09d076a0f6c2396798b98c0fa60d3	Myocardial insufficiency, @DISEASE$ and @PHENOTYPICFEATURE$ should be looked for.	false
+7148791325e22239389919c4a18b6b59efc66cec	Pregnancy outcome, breakpoints, mode of segregation of the translocated chromosomes, and resulting chromosome imbalance were analyzed in 58 families (46 with reciprocal and 12 with Robertsonian translocations) ascertained for birth of a malformed child, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+81373dfbdc0f1c6e758447b90fee6c019fc4e5bd	@PHENOTYPICFEATURE$ and @DISEASE$ among men with HIV.	false
+fa8cae37596ec8b6b9705a2cb82205170a98bb1c	Original immunophenotype of blood endothelial progenitor cells and microparticles in patients with isolated arterial @PHENOTYPICFEATURE$ and late onset @DISEASE$: effects of androgen replacement therapy.	false
+78dcee3f9b7810a66842dd577b4a37562de25291	@PHENOTYPICFEATURE$ is rarely caused by @DISEASE$.	false
+c6a196cb655e208b8170cd07450a016021a1188d	Bloom syndrome is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, photosensitivity, immunodeficiency, @DISEASE$ and a tendency to develop various malignancies.	false
+0ed104c279ef0e2f2f9c29a3cbed8ac9d28ad469	@PHENOTYPICFEATURE$ and cardiovascular disease share a similar underlying pathophysiology, and low serum testosterone, known as @DISEASE$, is a significant player in both conditions.	false
+4eee26f6b6db295b7985fffa8d76b49e576e714e	@PHENOTYPICFEATURE$ and @DISEASE$ were substantially underreported in the study population even though these diseases were found to affect 48 and 21% of the participants, respectively.	false
+3ffd03243ad2c5a30ffefaba91a59275bcb89288	Mice expressing human TDP-43 in neurons exhibited @PHENOTYPICFEATURE$ and premature death that are characterized by abnormal intranuclear inclusions composed of TDP-43 and fused in sarcoma/translocated in @DISEASE$ (FUS/TLS), and massive accumulation of mitochondria in TDP-43-negative cytoplasmic inclusions in motor neurons, lack of mitochondria in motor axon terminals, and immature neuromuscular junctions.	false
+2a109b310d726608dceb55f657d7829e1c1e262a	To consider the differential diagnosis of lipomatous pseudohypertrophy of the pancreas, it is necessary to distinguish it from @PHENOTYPICFEATURE$, diabetes, and age-related pancreatic fat infiltration and @DISEASE$.	false
+7e5bf9fe119561821b25ba629e5df50779388dfd	The aims of this study were to determine the association of PA with @DISEASE$ in 11- to 16-year-old adolescents, and to examine the modifying effects of @PHENOTYPICFEATURE$ and other factors.	false
+c28c0f0838faf463b33aa81d1511364c67e356d0	We examined cellular organization, cell proliferation, and constituents of the extracellular matrix such as N-sulfated heparan sulfate (@DISEASE$) and laminin (LAM) in postmortem brain tissue from the LV-SVZ of young to elderly individuals with @PHENOTYPICFEATURE$ (n=4) and age-matched typically developing (TD) individuals (n=4) using immunofluorescence techniques.	false
+0b0aaecdff5148648cb19649d3ba82e94a060792	Mutations in genes that interfere with K(v) ion channel function cause severe inherited diseases, such as @DISEASE$, @PHENOTYPICFEATURE$, epilepsy, or cardiac arrhythmia.	false
+c47d6e76934498f9eea02eb79652c7b1bf3dc999	These include acquired neuromyotonia, @DISEASE$, hereditary @PHENOTYPICFEATURE$ syndromes, benign familial neonatal convulsions and hypokalaemic periodic paralysis.	false
+7f4176c817fda26524e73a3392a2b18584450105	@DISEASE$ caused by bilateral opercular lesions: right side @PHENOTYPICFEATURE$ and left side ischemic stroke.	false
+fd3a055cc8bbf50c59834cb7f2d07a22de527869	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, @DISEASE$, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+0eba2b13b9fef8697db4247f4240f2f688a67bd2	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, @DISEASE$, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+3f18e04ba02f3c7ecf6318781e02218717c90a55	Children with @DISEASE$ have dental abnormalities which combine to prevent normal tooth eruption, and which if untreated may result in @PHENOTYPICFEATURE$ and jaw growth.	false
+74b0bce100dd4f1e2507c5bd1644ed2af4ab201d	Nail-patella syndrome (NPS) is an autosomal dominant hereditary disorder characterised by @PHENOTYPICFEATURE$, patellar apoplasia/hypoplasia, iliac horns, elbow dysplasia, and frequently @DISEASE$ and progressive nephropathy.	false
+66b370ab46e71a74eec05c12838b537f9152290b	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @PHENOTYPICFEATURE$, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+4653a6e6362dc58b92b2b7f303c2c1de1e12f727	Three congenitally infected children have major neurological handicaps including @DISEASE$, microcephaly, and psychomotor delay, and five (10%), including the one with quadriplegia, have @PHENOTYPICFEATURE$ which is bilateral in three (6%).	false
+27b53a060bd49582f3cd309ff7c7a4c46ea6b834	At 5 years of age those with neonatal encephalopathy were more likely to have developed @DISEASE$ (OR 4.8; 95% CI 2.2 to 10.5), to have @PHENOTYPICFEATURE$ (OR 3.0; 95% CI 1.0 to 8.6), and to be non-walking (OR 4.0; 95% CI 1.8 to 8.8) than those without neonatal encephalopathy.	false
+932a0e5329e97455d5f0fdd2362ca5c5460add7e	Three males in two generations of a family had microencephaly, @PHENOTYPICFEATURE$ with corneal opacities, @DISEASE$, hypospadias and cryptorchidism.	false
+b619babbbc927df58c38e8414bf6cef4bf6df610	On it, due to isolation and consanguineous marriages, certain hereditary diseases such as dwarfism, albinism and a progressive @DISEASE$ associated with @PHENOTYPICFEATURE$ and mental defect, appear more frequently than in the rest of the population.	false
+e452b5ef7000448372ba56faa365d6c5961ec650	A severe female case of arthrogryposis multiplex congenita with @PHENOTYPICFEATURE$, @DISEASE$ and intellectual disability caused by ZC4H2 mutation.	false
+6b6543c065813a7656453c5c5f28e40a27e971af	We present a non-consanguineous Japanese female presenting AMC with severe intellectual disability and @DISEASE$ who also had progressive @PHENOTYPICFEATURE$.	false
+e6c41a387ee6c27351628baff549fdb3bc6f301d	The distribution of the major aetiologic groups is different from populations with isolated mental retardation and populations with isolated @PHENOTYPICFEATURE$ but similar to a Swedish population with @DISEASE$.	false
+38923d179a2a90217221c510ac2a4e8cfe49430b	In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with @PHENOTYPICFEATURE$, cleft palate, connective tissue abnormality, mental retardation, and @DISEASE$.	false
+281515810f4594548173497f0cbd86c87052d46f	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+10ed6c0513062b9c74aa897e3b69a9e443edb833	Kleefstra syndrome (KS; OMIM #610253), formerly known as the @DISEASE$, is an autosomal dominant cause of intellectual disability (ID) characterized by hypotonia and @PHENOTYPICFEATURE$.(1,2)	false
+e1c095c9d26cd323774e5a95ccdb0607dc3316cf	Our case also had @PHENOTYPICFEATURE$, an association not previously described in @DISEASE$.	false
+0aa75303ea152e8fd06b78b6ed5f95eb47a58241	The prevalence of familial hemiplegic migraine with @PHENOTYPICFEATURE$ and @DISEASE$ in Portugal.	false
+afe4b446be9eb0697db7c1f50867f8aae65a9c7d	Spinocerebellar ataxia type 3, @DISEASE$ and Friedreich's @PHENOTYPICFEATURE$ are common hereditary ataxias.	false
+12709453f59e5a2c1239d222108f657dcf068988	@DISEASE$ (SCA6) is an inherited @PHENOTYPICFEATURE$ with no established treatment.	false
+ddec3fdbc24be15abad3214ef71f49dd209a0573	@DISEASE$ (SCA-6) is a rare, autosomal dominant neurodegenerative condition characterized by adult onset @PHENOTYPICFEATURE$ and ocular movement disorders.	false
+344bc263aa4fb9d5796f379052ff3bad536c4007	Spinocerebellar ataxia type 6 (@DISEASE$) is a rare, autosomal dominant neurodegenerative condition characterized by adult onset @PHENOTYPICFEATURE$ and ocular movement disorders.	false
+568721d49b1f7b4e06cd23a999859521661c51a3	@DISEASE$ (SCA6) is an autosomal dominantly inherited disorder characterized by @PHENOTYPICFEATURE$, dysarthria and nystagmus.	false
+f3368d6916907b961adcef786b40cb4ff6478774	We reported a 73-year-old woman of spinocerebellar @PHENOTYPICFEATURE$ 6 (@DISEASE$).	false
+06ee56da2793000711caac0b78477093ec5b2917	Expansions of the CAG repeat in the 3' end bring about spinocerebellar @PHENOTYPICFEATURE$ 6 (@DISEASE$).	false
+879b2a61ca2df19ebf1072b119c56009aa47050c	4-aminopyridine reverses @PHENOTYPICFEATURE$ and cerebellar firing deficiency in a mouse model of @DISEASE$.	false
+f128565a93b91f0816af3c19935ea73b73a2a1db	[A sporadic case of spinocerebellar @PHENOTYPICFEATURE$ 6 (@DISEASE$) with large CAG expansion of the CACNL1A4 gene].	false
+a42c4ca35ea9bdd42813682b274d05d86d77484a	24 patients with @DISEASE$ (SCA6), type 3 (SCA3), and Friedreich's @PHENOTYPICFEATURE$ (FRDA) participated.	false
+f6a114940d49ac77b295e19ff66be627416d91b3	Efficacy measures involved pain (numeric rating scale, McGill pain questionnaire), @PHENOTYPICFEATURE$ (Burke-@DISEASE$-Marsden dystonia rating scale, unified myoclonus rating scale, tremor research group rating scale), activity (Radboud skills questionnaire, walking ability questionnaire), and a clinical global impression (CGI) and patient's global impression score (PGI).	false
+59ccb09403a6fa63a895a6a4b5d0c54c7555ff68	Preoperative and postoperative videos were scored using the Barry-Albright Dystonia Scale (BADS) and Burke-@DISEASE$-Marsden Dystonia Rating Scale (BFMDRS) by a neurologist specializing in @PHENOTYPICFEATURE$.	false
+a6e5bcb8e70122de01498d06c7ddd12e2d35d46a	We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of @PHENOTYPICFEATURE$, 13 patients with renal failure, 8 patients with pseudoporphyria of renal failure, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with @DISEASE$, and 4 patients with erythropoietic protoporphyria.	false
+9e87bf43f9684e30062d6badd2f109b8f598411e	We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of renal failure, 13 patients with @PHENOTYPICFEATURE$, 8 patients with pseudoporphyria of renal failure, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with @DISEASE$, and 4 patients with erythropoietic protoporphyria.	false
+87c96cfb3d2a0041767f2dc3788b7ca61aa4231b	We studied 245 healthy subjects, 32 patients with classical porphyria cutanea tarda (PCT), 12 patients with PCT of renal failure, 13 patients with renal failure, 8 patients with pseudoporphyria of @PHENOTYPICFEATURE$, 3 patients with acute intermittent porphyria, 5 patients with variegate porphyria, 5 patients with @DISEASE$, and 4 patients with erythropoietic protoporphyria.	false
+c1948a3a2e654a68b7560e57a3620e8171411257	Nontraditional applications of BoNT have been reported for the treatment of the following dermatological conditions: hyperhidrosis, Hailey-Hailey disease, Darier disease, inversed psoriasis, aquagenic palmoplantar keratoderma, @DISEASE$, multiple eccrine hydrocystomas, eccrine angiomatous @PHENOTYPICFEATURE$, eccrine sweat gland naevi, congenital eccrine naevus, Raynaud phenomenon and cutaneous leiomyomas.	false
+787ceb8800c21e79e729fb439eef94f7821df054	Cutaneous manifestations seen in most of the cases of @DISEASE$ include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and @PHENOTYPICFEATURE$.	false
+86407631bb87d48767c159d5b622fc291aa8176d	Familial @DISEASE$ is frequently associated with @PHENOTYPICFEATURE$.	false
+caf8ad07c4d9a2346791510b7427f9b80d1d7269	Familial @DISEASE$ includes the following typical clinical findings: corneal opacification, proteinuria, @PHENOTYPICFEATURE$, turbid or milky plasma, very low plasma HDL, very low plasma cholesterol esters and lysolecithin, hyperlipidemia, and very low or absent LCAT enzymatic activity.	false
+0ce898254c7d96f3bd4812c65669ea939724733d	Their clinical manifestations including corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and hypoalphalipoproteinemia were identical for familial @DISEASE$.	false
+1df23763cae69a73c9dde81e1d8231e63ec8fe77	Patients with @DISEASE$ have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and kidney failure.	false
+806507a9cc953be00166417bbd38c77255e9cbea	@PHENOTYPICFEATURE$ caused by Macrophomina phaseolina in a child with @DISEASE$.	false
+550027f6f02446cfbb192cf3978194ad1d9ce46a	Remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+631d2f9794d53cc36bb4d12a737ba6b67bb3a711	To conclude from our study, PICCs are most commonly indicated in malignancies that are requiring long-term chemotherapy, such as hematological malignancy, especially @DISEASE$, and solid malignancies, usually osteosarcoma, and these catheters are associated with complications such as infection, thrombosis, catheter blockage, @PHENOTYPICFEATURE$, bleeding, and pneumothorax.	false
+32c38eb2971a3f6661607196e30ee0b2b7aa054e	Fourteen cases of @DISEASE$ are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, @PHENOTYPICFEATURE$ with nail hypoplasia in one and hypoplastic extra middle finger in another one).	false
+b934cc219738e3e523af368090b0be084cfc3c20	As human mutations in WNT5A and VANGL2 are found to cause @DISEASE$ and @PHENOTYPICFEATURE$, respectively, our results further suggest that human mutations in RYK may also be involved in these diseases.	false
+52a10eb67c77ab0f147d07c5729222e2a2c201fe	Dwarfism, rhizomelic limb shortness, and @PHENOTYPICFEATURE$: new short stature syndrome sharing some manifestations with @DISEASE$.	false
+8b54f7e027f6e06ec26d95461862f1ea4a0771ce	@DISEASE$, @PHENOTYPICFEATURE$, and anti-Ro antibodies.	false
+ad847738a3df693284810a3c5f5b33451e8a2946	In a newborn infant with @DISEASE$ and encephalopathy, brain magnetic resonance imaging revealed cytotoxic @PHENOTYPICFEATURE$ in white matter.	false
+b693a4504046bb108766db2fbb90fcb93eb298dd	@DISEASE$ syndrome is a condition where prodigious talent can co-occur with developmental conditions such as autism spectrum conditions (@PHENOTYPICFEATURE$).	false
+a9dc033c1587a07bb5390b2c0bcd77b4db395446	The major clinical features presented by @DISEASE$ patients include ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay, and mental retardation; however, the pathophysiology of this disease is poorly understood.	false
+4db923febc06e68d7ed2fe1245b5b3e62640f906	We describe a Chinese infant with maple syrup urine disease (@DISEASE$) who had acrodermatitis enteropathica-like skin manifestations, @PHENOTYPICFEATURE$, anemia, and diarrhea due to inadequate intake of branched-chain amino acids (BCAAs).	false
+a60144c83eb8ff655eb4cc3a20128fc2a5dd1e8a	Initial presentation of @DISEASE$ in a 14-week-old child included @PHENOTYPICFEATURE$, present otoacoustic emissions, and absent BAEPs.	false
+85b4630a236c775cccd5d4f342930c734c9461fd	In addition, a localized, more severe @PHENOTYPICFEATURE$ (the @DISEASE$ edema) is seen, which involves the deep cerebellar white matter, the dorsal part of the brainstem, the cerebral peduncles, and the dorsal limb of the internal capsule.	false
+ea8c1ba1b8b3e7bc28597ca3e46e7a0b13b100ae	In addition, a localized, more severe edema (the @DISEASE$ @PHENOTYPICFEATURE$) is seen, which involves the deep cerebellar white matter, the dorsal part of the brainstem, the cerebral peduncles, and the dorsal limb of the internal capsule.	false
+522baf788c4f76ba077339f94c774ed3b94b73c7	The main symptomatology presented by @DISEASE$ patients includes ketoacidosis, @PHENOTYPICFEATURE$, poor feeding, apnea, ataxia, seizures, coma, psychomotor delay and mental retardation, but, the neurological pathophysiologic mechanisms are poorly understood.	false
+230e5d757acf8045bbf5dadf339aae45a0fe5ace	Both the generalized and the @DISEASE$ @PHENOTYPICFEATURE$ subside during the second month of life, then may disappear totally or leave a well-defined, low-density zone around the lateral ventricles and small, low-attenuation lesions within the brainstem, respectively.	false
+4a8275498d7fd96787e7b22c70eab8f9abd86283	A 26 year old man with a nine year history of adult onset Still's disease (@DISEASE$) developed @PHENOTYPICFEATURE$ during an exacerbation of his disease.	false
+ca51070fd532e89fd7719f76cc440d817e230e75	We present a patient with @DISEASE$ who developed chronic meningitis and @PHENOTYPICFEATURE$ on treatment, with a review of prior reported cases of aseptic meningitis, to highlight this rare complication of this uncommon illness.	false
+b52bf52396be37c7d17ec0fe50147ec1ac9ea1b6	Our patients with @DISEASE$ presented with massive polyarthralgias, polyarthritis, splenomegaly or hepatomegaly, the typical rash, sore throat, @PHENOTYPICFEATURE$, serositis, continuing fever, leucocytosis, and raised C reactive protein (CRP), erythrocyte sedimentation rate (ESR), and ferritin levels.	false
+0cc050c7e27e455f9cfbd0955647b6b810221c34	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external @PHENOTYPICFEATURE$ with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+b41a97ef8266e06819d86eb2a603b4546fc8e7e7	The rarest type of carcinoid tumor is ampullary located carcinoid tumor, and tumor size is not a reliable indicator for @PHENOTYPICFEATURE$ aggressivity in ampullary @DISEASE$.	false
+4a3c39e499a9aeb843f97cac52affa9b73b7651b	The rarest type of carcinoid tumor is ampullary located @DISEASE$, and @PHENOTYPICFEATURE$ size is not a reliable indicator for tumor aggressivity in ampullary carcinoid tumors.	false
+5814903cb0ec56240c7afa2d0adfb837ade96e19	The rarest type of carcinoid tumor is ampullary located @DISEASE$, and tumor size is not a reliable indicator for @PHENOTYPICFEATURE$ aggressivity in ampullary carcinoid tumors.	false
+14c0116f66005f7c6852874833730c645ac1cc9a	The rarest type of carcinoid tumor is ampullary located carcinoid tumor, and @PHENOTYPICFEATURE$ size is not a reliable indicator for tumor aggressivity in ampullary @DISEASE$.	false
+88dbb0f453b0eec1b825479666b910478fc0d3ae	The rarest type of @DISEASE$ is ampullary located carcinoid tumor, and @PHENOTYPICFEATURE$ size is not a reliable indicator for tumor aggressivity in ampullary carcinoid tumors.	false
+e61d255ba44b63348014e1c639581cbc49dc1f38	The rarest type of @DISEASE$ is ampullary located carcinoid tumor, and tumor size is not a reliable indicator for @PHENOTYPICFEATURE$ aggressivity in ampullary carcinoid tumors.	false
+4882abffcbdd1dd272ba4b158df479e969c58349	All the @PHENOTYPICFEATURE$ were typical @DISEASE$ tumours.	false
+11b0ee80bbfea0d2247b1b8f2eb20a295256dec9	@DISEASE$ tumours are rare neuroendocrine @PHENOTYPICFEATURE$.	false
+3783cab1974effacb0a4e37906d690c5ce4ee173	@DISEASE$ are uncommon pulmonary @PHENOTYPICFEATURE$.	false
+2a62b4148e04f7405c0f12e82d3b4b8212d14522	@DISEASE$ tumours are often indolent asymptomatic @PHENOTYPICFEATURE$.	false
+73978f675f6adb09a54e6f2ab7052c3fe640e5a8	Pathology revealed a metastatic renal @DISEASE$/neuroendocrine @PHENOTYPICFEATURE$.	false
+946087d0ae7830acbb4c99c717564a6895e8665e	@DISEASE$ heart @PHENOTYPICFEATURE$.	false
+3e9f28aee29f04bf14f79d8985bd76d93d9ef856	@DISEASE$ Klatskin @PHENOTYPICFEATURE$: A rare cause of obstructive jaundice.	false
+32e77b3d4d44e7d1227e76eb6697e00db3e73907	These @PHENOTYPICFEATURE$ can manifest as central carcinoid tumors, pulmonary carcinoid tumorlets, or peripheral @DISEASE$.	false
+185457e510760ab24eddf8e74dd0e63e2e365a0e	These @PHENOTYPICFEATURE$ can manifest as central @DISEASE$, pulmonary carcinoid tumorlets, or peripheral carcinoid tumors.	false
+aca34e5cbe7bc9288ebb6389f069e797bf4e3646	70.5% @DISEASE$ tumours, 29.5% pancreatic @PHENOTYPICFEATURE$.	false
+50606e3e2ab2a5f47d0a2e9c08fe2106185086e9	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named @DISEASE$ (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+52dad9b2cab97809e9a3e9ac63aeebcc394d9d4c	@DISEASE$ (CIDP) is an acquired demyelinating disease of the peripheral nervous system characterized by @PHENOTYPICFEATURE$, areflexia or hyporeflexia, and sensory disturbances.	false
+1a66231bc976aa80b0ad15ac5ec8f9de00e3af30	@DISEASE$ is characterized by bile duct paucity, along with at least three of the following features: cholestasis, cardiac defects, @PHENOTYPICFEATURE$, ocular abnormalities and characteristic facies.	false
+962791d16383d344949fa61d688018cdb4542b83	@DISEASE$ is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, @PHENOTYPICFEATURE$, ocular abnormalities, and characteristic facies.	false
+054812a64cb1c597dfacbc3866e5bde98f4b0824	@DISEASE$ (= arterio-hepatic dysplasia) is a rare congenital syndrome consisting of cholestasis with paucity of intrahepatic bile ducts, pulmonary artery stenosis, @PHENOTYPICFEATURE$ and typical facies.	false
+4e10f6a21f19c427245b022c77cf499c45bee4a0	Subsequent clinical follow-up identified the following etiologies: Idiopathic (49%), @PHENOTYPICFEATURE$ (16%), biliary atresia (8%), @DISEASE$ (6%), bile salt defects (6%), as well as several other entities present at 5% or less.	false
+0ac613946b59f6cccf99814710000ddd9c778a18	In the presence of cardiac and axial @PHENOTYPICFEATURE$, attention should be paid to the fetal gallbladder, whose absence would signal a diagnosis of @DISEASE$.	false
+1bf3d71faa881f572602a39c94eb7e6a0e1b5a7d	@DISEASE$, or arteriohepatic dysplasia, is a disorder characterized by paucity of intrahepatic bile ducts, peculiar facies and @PHENOTYPICFEATURE$.	false
+653cf73681e88a0094cacd81de4f758222bb83a0	Alagille syndrome, or @DISEASE$, is a disorder characterized by paucity of intrahepatic bile ducts, peculiar facies and @PHENOTYPICFEATURE$.	false
+ef9d92cffddf7495946a59d60dd252f590a57d64	@DISEASE$: association of liver disease with pulmonary arterial stenosis as well as facial and @PHENOTYPICFEATURE$.	false
+649354ddf8761caeb4f56799a9286783352015ae	@PHENOTYPICFEATURE$, particularly of the vertebrae, and a striking facial dysmorphism provided the features of @DISEASE$, Alagille's syndrome, an autosomal dominant disease generally becoming manifest during childhood.	false
+3c9b27ceb92d06dcc93e8db01c33cf8ff56057a9	@DISEASE$ is an autosomal dominant condition with incomplete penetrance that is associated mostly with hepatic, cardiac, and @PHENOTYPICFEATURE$.	false
+190c252768a78b0e15351813574ebea6fd569b56	Mild peripheral pulmonic stenosis, @PHENOTYPICFEATURE$, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having @DISEASE$.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+634da3f6ee10204ccf7e26c889493d39991efcfe	@DISEASE$: a new dominant disorder with myotonia, @PHENOTYPICFEATURE$, and cataracts.	false
+f25ddb238678a4303917f52481e24b5f9e6aa532	@DISEASE$ (DM2) is a progressive multisystem disease with @PHENOTYPICFEATURE$ and myotonia as main characteristics.	false
+011734fee52775a840a35e5dd1cb0a5a395365b5	Myotonic dystrophy type 1 (DM1) and @DISEASE$ (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, muscle atrophy, and @PHENOTYPICFEATURE$.	false
+841daf664be4c97c1b84ee80b82c37c76582cd68	Afibrinogenaemia usually induces a @PHENOTYPICFEATURE$ during infancy, whereas @DISEASE$ increases susceptibility to thrombosis in children or adolescence.	false
+8ed48509487181450126bdcfba4a837ee5010f81	The term @DISEASE$ was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, @PHENOTYPICFEATURE$/diabetes mellitus and hallux valgus/flexion contractures.	false
+b8dcd7d6293c62cbb2013ec8e53b4d2f1a9edd58	@DISEASE$ (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, @PHENOTYPICFEATURE$/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.	false
+d15f4cf7caf6ac4aaf6163e75f09c86460627abb	@DISEASE$ syndrome is an association of Becker's nevus with unilateral breast hypoplasia and muscle, skin, and/or @PHENOTYPICFEATURE$.	false
+4dfeba30700d8399a3fa5e61149d1143eddb9a3a	@DISEASE$ syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker's nevus, ipsilateral @PHENOTYPICFEATURE$, and variable skeletal malformations.	false
+6acc6a23162c0086eb8018cc8f7fdc154e72d067	@PHENOTYPICFEATURE$ were observed in eight children, half of them having a chronic comorbidity (2 epilepsy, 1 @DISEASE$, 1 anoxic encephalopathy).	false
+ce3a40a9369f15209176f1b0f8785cf5715c8ee4	An oral loading test with L-valine (100 mg/kg body weight) in 3 patients with @DISEASE$ was accompanied by @PHENOTYPICFEATURE$ and hyperreflexia of the patients.	false
+72f64113352dc4ddd886d464bad47c33df042324	@PHENOTYPICFEATURE$ disorder in a patient with @DISEASE$.	false
+b881f61af15f7cb47dcfe245b574de7ed9e6fcaf	Meningococccal meningitis and @DISEASE$ associated with oculocutaneous @PHENOTYPICFEATURE$.	false
+eefece5f9ee5ab3fb7ab663dc48dff9bdff10647	@DISEASE$ (SEI), previously known as ichthyosis bullosa of Siemens, is a rare genetic skin condition, characterized by blisters and @PHENOTYPICFEATURE$.	false
+571a20ac953b52783377c5785ab324980512f373	@DISEASE$ (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild @PHENOTYPICFEATURE$, superficial blisters and shedding, referred to as the moulting phenomenon.	false
+73041b25dbf29215a22243e35a353bbe5c11fe11	@DISEASE$ usually manifests in the neonatal period with poor feeding, vomiting, lethargy, muscular @PHENOTYPICFEATURE$, seizure, coma and death.	false
+db1bed9e3c8266cd6f8a7a71117c14f6757010ea	@DISEASE$ may lead to severe neonatal @PHENOTYPICFEATURE$ including coma and impaired cognitive outcome in later life.	false
+bfbc07fac9764c029861bf81bd9336f58b8643df	The BRICHOS domain was initially defined from sequence alignments of the Bri protein associated with familial @PHENOTYPICFEATURE$, chondromodulin associated with @DISEASE$ and surfactant protein C precursor (proSP-C) associated with respiratory distress syndrome and interstitial lung disease (ILD).	false
+5995fe24b4a3c1bde20373ac533f7e31910c24e4	This review describes: 1- some muscle and non-muscle factors that are altered in asthma that may lead to airway narrowing and @PHENOTYPICFEATURE$ symptoms; 2- some technologies such as the forced oscillation technique that have the potential to unveil the role of ASM in airway narrowing in vivo; and 3- some data from ex vivo and in vitro methods that probe the possibility that airway hyperresponsiveness is due to the altered environment surrounding the ASM or, alternatively, to a hypercontractile @DISEASE$ phenotype that can be either innate or acquired.	false
+c016b462a2ffd8d66803006e1485c586ce19209d	After adjustment for @DISEASE$, all metabolic diseases and indexes, and @PHENOTYPICFEATURE$ were significantly associated with the composite physical frailty score in univariate analysis.	false
+01b6cea5158c36565f47624b9cc55b6b55d7f7c2	Four-year outcomes for those with ASM in kg per height in meters squared (@DISEASE$/ht(2)) less than 2 standard deviations (SDs) and 2 SDs or more below the young adult mean value were compared using analysis of variance and logistic regression, adjusting for potential confounding factors such as age, fat mass, presence or absence of malnutrition, dietary protein and vitamin D intake, comorbidity, and @PHENOTYPICFEATURE$.	false
+6ecdef47e635e09b607aed233d67392b3ce97c32	Four-year outcomes for those with @DISEASE$ in kg per height in meters squared (ASM/ht(2)) less than 2 standard deviations (SDs) and 2 SDs or more below the young adult mean value were compared using analysis of variance and logistic regression, adjusting for potential confounding factors such as age, fat mass, presence or absence of malnutrition, dietary protein and vitamin D intake, comorbidity, and @PHENOTYPICFEATURE$.	false
+2a69ade4a41736dad88444a091509ef946d486e3	This paper presents a method that can track a deforming @PHENOTYPICFEATURE$ in fluoroscopic video using active shape models (@DISEASE$) (Cootes et al 1995 Comput.	false
+a93794a5b9625ed52983ecd1fdb2b411bd7e3951	Patients with @DISEASE$ (HLRCC) resulting from fumarate hydratase (FH) mutations may present with skin, uterine, and @PHENOTYPICFEATURE$, with each having unique pathologic features.	false
+0392344bc26425d066ff9b20741434b28c03cdca	It appears that young age, moderate to severe hydrocephalus, transependymal edema, the presence of cerebral metastases, and tumor pathology (medulloblastoma and @DISEASE$) on presentation predict postresection or persistent @PHENOTYPICFEATURE$.	false
+f0cbfe23ea9d67ae27f543c4606e5b316a478377	The @DISEASE$ was a homogeneous well-defined mass of the fourth ventricle without @PHENOTYPICFEATURE$.	false
+d056cb15ea632bfd496f926780c62679287f9819	tumor xenografts of CNS tumors (malignant glioma and @DISEASE$) or rhabdomyosarcoma, a limited course of ZD6474 treatment produced significant tumor @PHENOTYPICFEATURE$ and a high rate of partial tumor regression in most models examined.	false
+e8825445c87f0b6860877ce8516c1288441728dc	Classical @DISEASE$, deficiency of galactose-1-phosphate uridyltransferase (GALT), is characterized by acute symptoms of hepatomegaly, jaundice, sepsis, cataracts and @PHENOTYPICFEATURE$.	false
+4dd20315acf215a413d1564b39e3b1db3992b378	Against the background of the enzyme repression, the continuation of galactose treatment leads to the development of @DISEASE$ symptoms; cataracts, liver lesions @PHENOTYPICFEATURE$.	false
+230ebc16bc38f0d5eb7e61c31b3e60cc5bc1b64b	@DISEASE$ and obstructive @PHENOTYPICFEATURE$.	false
+4b804f61ff19e7cdda776ef70b0a2ad875168660	But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, @DISEASE$, @PHENOTYPICFEATURE$, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally.	false
+50afe5ee25845e98179ccd7b5af91c75ea772ee1	NICCD patients have jaundice, hypoproteinemia, hypoglycemia, @DISEASE$, @PHENOTYPICFEATURE$, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	false
+7eea1a421bf31173d9c2f81b969f035bb9324307	When a person with @DISEASE$ is admitted to the hospital, there are multiple considerations to keep in mind while strategizing an effective care plan: avoidance of new blisters with a "hands-off" approach; careful consideration of all indwelling devices; symptomatic management of pain, itch, and anxiety; coordination of dressing changes; aggressive treatment of @PHENOTYPICFEATURE$; environmental and staffing considerations; and awareness of other chronic complications that affect care, such as anemia, malnutrition, and chronic pain.	false
+a5f7f00296da82aae447774c7b088a6dca91e2cd	Compared to the late-onset group, the early-onset group had a twofold increase in maternal mortality ratio and a significantly increased incidence of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+716132417ce3c0dacc8b177a79c6c9d1ac0f8391	@PHENOTYPICFEATURE$, @DISEASE$, eclampsia).	false
+f311de3a9098a17be1e2d2a7942fb6b93859e716	In addition, there was evidence of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+84ba06c19900b38e1543470352900b34250706c1	Our case refers to a 32 year old woman at 32 weeks gestation in twin pregnancy who presented with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+671c8772bf522bcece6f53dc1d68984b29afd6f3	[Severe pre-eclampsia, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+da82c5d25ede0ea074aec5c19c182966c3f2d42d	@DISEASE$ was found in one case, no patient had @PHENOTYPICFEATURE$.	false
+7734e2a45f2e7591cdd080584151fa8b9cf828d6	A 30-year-old primigravida with severe preeclampsia at 35 weeks and 3 days' gestation presented with the development of @DISEASE$ and @PHENOTYPICFEATURE$ postpartum.	false
+ffbd95af3d53a596242873cfc1efce5855cd93c7	Pre-eclampsia is the abnormality of blood circulation in late pregnancy, often caused by @PHENOTYPICFEATURE$, @DISEASE$, and eclampsia.	false
+52b16ea6a85cff4152fd04d18bb9ee44bd500e94	Hypertension affects about 10% of pregnancies and is responsible for both maternal and neonatal devastating complications such as eclampsia, @DISEASE$, prematurity and maternal and @PHENOTYPICFEATURE$.	false
+dff03b10cca014de5d981eb139a08bf4fd61ba74	The management of severe maternal @PHENOTYPICFEATURE$ with @DISEASE$ is described.	false
+54eda66032a52cbf25b30e0b2fe3206981371352	Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/@DISEASE$ without @PHENOTYPICFEATURE$.	false
+2d0eeef00f0b6011be64c5ec52b6606d64af4a92	Optimal medical therapy for four weeks failed to suppress the recurrence of @PHENOTYPICFEATURE$ or @DISEASE$ heart failure.	false
+e9b01c7f10cd57cbcca3da9bb4a62795656a1ff7	The authors recommend the optimal therapy for each form of @PHENOTYPICFEATURE$ and the following management of patients with @DISEASE$.	false
+12477be42d4dcdd779cc1a6a965323e192ea4cda	A case of @DISEASE$ (IMF) presenting with @PHENOTYPICFEATURE$ and hypercalcitriolemia is reported.	false
+7d545a0710453e8c0b74477961f4d75564e1c3a2	New-onset RBBB is likely to increase long-term mortality, @PHENOTYPICFEATURE$, and cardiogenic shock, but not heart failure in @DISEASE$ patients.	false
+4c696147d0fce3ef73b0240e61fdaf9e63d3e78a	doses to patients with @DISEASE$ induced sedation, acute BP reduction and some reduction of @PHENOTYPICFEATURE$.	false
+9e7e44974f8c3139f5c92e79675e42735f3e2930	Adherence to colesevelam was associated with lower risk of major cardiovascular events (@DISEASE$ and stroke) among patients with @PHENOTYPICFEATURE$ and/or type 2 diabetes.	false
+3c19ebe4dc6fecf5f2642a3bf251090c19c3f673	Thus, hypomagnesemia in @DISEASE$ patients is rare and does not correlate with @PHENOTYPICFEATURE$ or delayed ventricular potentials.	false
+75b4d4a75f37c77c6ee7c23b1aa9a8f0700752f9	While hypoglycemia was associated with increased mortality in patients with @DISEASE$, this risk was confined to patients who developed @PHENOTYPICFEATURE$ spontaneously.	false
+6d46d8245c543c0b62f53aeeda99ecd94c4652c6	Patients with @DISEASE$ had higher BMI, were less physically active, and were more likely to have histories of hypertension, diabetes, @PHENOTYPICFEATURE$ and smoking compared with the controls.	false
+2ea62adc9ac61373692c8830e9c010dcaa68b3b2	RVI in @DISEASE$ was also associated with a statistically significant increase in all secondary end points assessed, including cardiogenic shock, @PHENOTYPICFEATURE$, advanced atrioventricular block, and mechanical complications.	false
+63f80fc34d002d65a6e98904decdc6437fa49721	[Fetal pathology study of 88 cases of @DISEASE$ @PHENOTYPICFEATURE$].	false
+93ed5a64797c89fcf434f69c2f4d53cbb4216e67	Lethal spina bifida continue to be frequent in Tunisia; we report 88 cases of @DISEASE$ @PHENOTYPICFEATURE$: 1.05 per thousand births.	false
+5b737883edb2f540dcc28a94553e01b3b948e20a	Lethal @PHENOTYPICFEATURE$ continue to be frequent in Tunisia; we report 88 cases of @DISEASE$ spina bifida: 1.05 per thousand births.	false
+3a1b1506a612b7f44950f9ebe3882bdc900f7914	@DISEASE$ (TAt) is a complex @PHENOTYPICFEATURE$ (CHD) characterized by the absence of the tricuspid valve and right ventricular hypoplasia requiring surgery in childhood, the Fontan procedure.	false
+a019428648cde58026f0a748d896b7effbe4421a	@DISEASE$ (TriAt), the third most common cyanotic @PHENOTYPICFEATURE$ (CHD), consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle.	false
+10f4a0c2a5908596600d8360071c5226047a8921	@DISEASE$ (TA) is a uncommon @PHENOTYPICFEATURE$.	false
+0be79a76895fd40e8082c2ca9900dbc59cbcb4f1	@DISEASE$ (TA) is a rare life-threatening form of @PHENOTYPICFEATURE$ (CHD).	false
+e3be5f70a328bbc4aa4cb82fac5c687c503ca4e9	@DISEASE$ and common @PHENOTYPICFEATURE$ are rare forms of congenital heart disease; the coexistence of both anomalies is therefore an extremely uncommon event.	false
+849bf4aa1b31fc77b0325a2a15122376ea566a69	@DISEASE$ (TA) is a rare @PHENOTYPICFEATURE$ in which the right atrioventricular connection, the tricuspid valve, is absent.	false
+7e484078ce0173774e064b4d83fc9e1a3cc1aeaf	(2) autosomal-dominant hypomagnesemia caused by isolated renal magnesium wasting, mapped to chromosome 11q23; (3) hypomagnesemia with hypercalciuria and nephrocalcinosis, a recessive condition caused by a mutation of the claudin 16 gene (3q27) coding for a tight junctional protein that regulates paracellular Mg(2+) transport in the loop of Henle; (4) autosomal-dominant @PHENOTYPICFEATURE$, a variably hypomagnesemic disorder caused by inactivating mutations of the extracellular Ca(2+)/Mg(2+)-sensing receptor, CASR: gene, at 3q13.3-21 (a significant association between common polymorphisms of the CASR: and extracellular Mg(2+) concentration has been demonstrated in a healthy adult population); and (5) @DISEASE$, a recessive form of hypomagnesemia caused by mutations in the distal tubular NaCl cotransporter gene, SLC12A3, at 16q13.	false
+94e3341c938c1a055f20d4295fdb1cb84f485364	Based on genomic rearrangements and copy number variations, the contactin-associated protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such as Gilles de la Tourette syndrome, intellectual disability, obsessive compulsive disorder, @DISEASE$, @PHENOTYPICFEATURE$, schizophrenia, Pitt-Hopkins syndrome, and attention deficit hyperactivity disorder.	false
+f874253f2e01e58c40864cf6830f8c0ee5236f05	Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-ectrodactyly-cleft lip or palate, @PHENOTYPICFEATURE$-ectodermal defects-cleft lip and palate, @DISEASE$, Goltz syndrome, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls.	false
+844582c7b2e298acc4034879c9963bf7bb66b447	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, @DISEASE$, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+6ab705f518219b13497f1d5ecc228d96df9e07a0	Both atrial and @PHENOTYPICFEATURE$ were more common in the @DISEASE$ group.	false
+c4fe5b827edce166ba007985381c5f57fbd84fb7	Though Y. enterocolitica sepsis is rare in Taiwan, clinicians should be aware of its tendency to develop in patients with @DISEASE$, @PHENOTYPICFEATURE$ and enterocolitis and that its clinical course may include sepsis leading to shock.	false
+871300e3253ca705b881303a3d7cab789d1ad2fd	Triatoma pseudomaculata @DISEASE$?a and Esp?nola, 1964 and Triatoma juazeirensis @PHENOTYPICFEATURE$ and Felix, 2007 ( = T. brasiliensis Neiva, 1911 [part]), are sylvatic vectors of Trypanosoma cruzi (Chagas, 1909), the causative agent of Chagas disease, in northeast Brazil-especially in the caatinga region.	false
+97f9d5c453adbd11022e11d42b639f343260d161	Previous hospitalization, use of proton pump inhibitors, @PHENOTYPICFEATURE$ along with @DISEASE$ or FACED scores is associated factors for developing exacerbations that require hospitalization.	false
+d4186c1240ebdb884d77de84cb4566cbb5a25884	Patient-related risk factors for @DISEASE$ were age older than 60 years (20 cases [80%] vs 28 controls [56%]), valvular disease (4 [16%] vs 1 [2%]), @PHENOTYPICFEATURE$ (7 [28%] vs 1 [2%]), indwelling bladder catheter before the ICP (5 [20%] vs 1 [2%]), more than 1 puncture for the ICP (5 [20%] vs 3 [6%]), a prolonged procedure (83.7 vs 65.1 minutes); and/or more than 1 ICP performed (2 [8%] vs 0).	false
+34d286873c79890ff8b266d8c7a4880b2b5856c7	Pantothenate kinase-associated neurodegeneration is a form of @DISEASE$, characterized by a progressive @PHENOTYPICFEATURE$ and prominent iron deposition in the globus pallidus.	false
+1a4bf279e8abf8f0205a7a6cbb1336cb4648454f	Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and @DISEASE$ type 2, NBIA2) is an adult-onset progressive @PHENOTYPICFEATURE$ caused by mutations in the ferritin light chain gene (FTL1).	false
+477a4b3d95fb9ebff9ae942db5185c91be4be5ff	PKAN is also assigned to a group of rare neurodegenerative diseases, known as NBIA (@DISEASE$), associated with iron accumulation in the basal ganglia and progressive @PHENOTYPICFEATURE$.	false
+803803aa032241b400dca7190a14bf80f85ceda7	We report 6 patients from the Indian-subcontinent with a @PHENOTYPICFEATURE$ and MRI basal ganglia iron deposition, compatible with diagnosis of an @DISEASE$ syndrome.	false
+24c4fc068ef24fb6bfc61676c12e261265171d7e	A 34-year-old woman was referred to our hospital with progressive @PHENOTYPICFEATURE$ and @DISEASE$ and enlargement of the frontal diploe on the MRI.	false
+567dcba4f1910a578723a056d17c49b38fdc46e9	In the search of DNA sequence variations affecting the individual predisposition to develop @PHENOTYPICFEATURE$, we scanned by DHPLC the exons and intronic boundary regions of ceruloplasmin, iron regulatory protein 2, hemopexin, hepcidin and hemojuvelin genes in cohorts of subjects affected by Parkinson's disease and idiopathic @DISEASE$ (NBIA).	false
+1b4b12e8b66678bebb610f6c723311bb5cfbfae3	The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically @PHENOTYPICFEATURE$'s symptoms are called NBIA (@DISEASE$).	false
+a449a089e9c56da2eb532f2350dcf2a6f2737e23	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal @PHENOTYPICFEATURE$, @DISEASE$, and primary familial brain calcifications.	false
+c0e1bf08614646ffc7a96c4ed4d9f65d8d7774f1	These results support the suggestion that @DISEASE$ is a @PHENOTYPICFEATURE$ of follicle centre cells which undergoes plasma cell differentiation as a result of exposure to lumenal antigen.	false
+abb1b0b7e94ae28b5195511fb849c8db33c9a6ae	@DISEASE$ might have resulted from (a) helper cell activities of @PHENOTYPICFEATURE$ T-lymphocytes, (b) common antigenic stimuli, or (c) deranged T-B cooperation due to concomitant mycosis fungoides.	false
+dd440b444b54d7d3d6f4455b0c21a5a4b24b38ec	The first mentioned @PHENOTYPICFEATURE$ and its specific intestinal variant, @DISEASE$ or immunoproliferative small intestinal disease are well known for their indolent clinical course.	false
+26e1569a93cbae2410b6b76c037b7c9c5e063cbf	Immunohistochemical staining of @PHENOTYPICFEATURE$ samples revealed features typical of @DISEASE$.	false
+71da5a1a637c5fc0d349afc6af77d658966f474d	The geography of leukemias and haematosarcomas is comprised of two parts 1) The study of geographic lymphomas, Burkitt @PHENOTYPICFEATURE$, and @DISEASE$.	false
+462a872fa4efa4a8fc14256bb7169452b96428b1	An ileocaecal @PHENOTYPICFEATURE$ in a patient with @DISEASE$ in remission was studied immunohistochemically by a quantitive immunoperoxidase method.	false
+d4714cc128ee81c312ae97e799b156a8ebb9446e	@DISEASE$ is a fairly rare disease (less than 80 cases have been diagnosed to date) the diagnosis of which should be considered as a routine in France when a young arab or oriental jew presents with digestive symptoms such as chronic diarrhoea, abdominal pain of abdominal @PHENOTYPICFEATURE$.	false
+aa3e873e6b80dbf1077b590f7d467207d4e06125	Biosynthetic studies in @DISEASE$ were performed on the gut tumour which was composed mainly of lymphoplasmocytic cells and on the mesenteric lymph node @PHENOTYPICFEATURE$ composed mainly of immunoblasts.	false
+81dfeb6e5c14aaad4b008f32acae4cc4419fc367	Biosynthetic studies in @DISEASE$ were performed on the gut @PHENOTYPICFEATURE$ which was composed mainly of lymphoplasmocytic cells and on the mesenteric lymph node tumour composed mainly of immunoblasts.	false
+bb19c31b737b842ef926c9dbc95cf534d7aa9ef7	We present a 40-year-old man with mental retardation, short stature, minor anomalies, and @PHENOTYPICFEATURE$, who was found to have osteopoikilosis with @DISEASE$ (mixed sclerosing bone dysplasia, MSBD).	false
+eb3adf4f63770e786abeda4673ebea763b37a026	We present a 40-year-old man with @PHENOTYPICFEATURE$, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with @DISEASE$ (mixed sclerosing bone dysplasia, MSBD).	false
+9a292a61e6fcc819dd38d9cf1888930c54f7df9f	We report the case of a 20-year-old woman with @DISEASE$ since childhood who presented with right @PHENOTYPICFEATURE$ and numbness.	false
+14d45e2a4c28f369230a3b8a5755e9e69b241333	The most common tubulopathies are distal renal tubular acidosis (22.5 %) and @DISEASE$ (19.3 %) followed by familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (15.7 %) and Gitelman syndrome (15 %).	false
+7e8a6bd56a82bc773dffb5accc0c2c660de3a332	"@DISEASE$ is mostly observed during infancy and childhood and is characterized clinically by polyuria and @PHENOTYPICFEATURE$.	false
+825178dc55db5ec688035b73d4dcf3385b0c5025	The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of @DISEASE$ from @PHENOTYPICFEATURE$-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.	false
+026e8fee40ed332471158f30ec5ac9e08ce8497f	The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in @DISEASE$ patients and that the distinction of LADD syndrome from @PHENOTYPICFEATURE$-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.	false
+bff4a593142edea06eae32f40a67b2f83add0581	Acute GVHD (seven cases: four SCID, two CID, and one @DISEASE$) was characterized by lymphocytes around large to medium ducts, damage to ductal epithelium (focal necrosis, reactive nuclear changes, inspissated secretions in duct lumens), and periductal @PHENOTYPICFEATURE$.	false
+3ba1dbf953a6a66ff1e7e6d5d527d5d40b8da893	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+74824528fc96b1273e460417f668f558e0f44a23	The @DISEASE$ may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+7c78a353248bc2ebf2b9a8b20de5d6f767e69b92	The 22q11.2 microdeletion is associated with a wide range of overlapping phenotypes including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), conotruncal @PHENOTYPICFEATURE$, and sporadic or familial cardiac defect.	false
+a649256cb6aa5f55630677b87a23692fc765ed20	IAA type B has been associated with @DISEASE$ (DGS), which includes conotruncal heart defects, T-cell immunodeficiency, hypocalcemia, and @PHENOTYPICFEATURE$.	false
+5f58469e5595cb38c92fabd9a4b84c9b7b54bcf9	However, corticosteroids have a considerable number of side effects, including hypertension, diabetes, lipid disorders, @PHENOTYPICFEATURE$, osteoporosis, myopathy, and disorders of coagulation and fibrinolysis, which are components of @DISEASE$ (CS).	false
+5fff2752194577294e72efdc5db4cdb14582daf6	Nevertheless, there are several early epilepsies (late infantile spasms, partial complex epilepsies, epilepsies with @DISEASE$, early forms of Landau-Kleffner syndrome) and with different etiologies (tuberous sclerosis is an important model of these situations) in which a direct relationship between epilepsy and some features of @PHENOTYPICFEATURE$ may be suspected.	false
+329516126514eed60fe503c414e1fec772f96ba1	The association of cognitive and/or @PHENOTYPICFEATURE$, epileptic seizures and continuous discharges spike-waves during slow sleep in the EEG, has been described in three epileptic syndromes: continuous spike-wave during slow sleep syndrome (@DISEASE$), Landau-Kleffner syndrome (LKS) or acquired epileptic aphasia, and atypical benign partial epilepsy of childhood (ABPE).	false
+ed36c346ef465ff96abdfb98acda49b8b17f57af	In humans FOXP1 mutations have been associated with language and speech defects, @PHENOTYPICFEATURE$, autism spectrum disorder, facial dysmorphisms, and @DISEASE$.	false
+f3831c9fd15569ac01cfa75985e826b4550fdb3f	A spinal @DISEASE$ is a rare benign @PHENOTYPICFEATURE$.	false
+1bbe1ffeb7e47d471f82e6e704edecd7b409469b	@DISEASE$ is painful benign @PHENOTYPICFEATURE$.	false
+e6b13a75f1e72da884fff58ca353cd9b5b399b46	@DISEASE$ is a nonmalignant @PHENOTYPICFEATURE$ that rarely localizes intraarticularly.	false
+d22fd82baad6543af26c2b51b64314f5576e07c6	@DISEASE$ is a rare benign osteoblastic @PHENOTYPICFEATURE$.	false
+249cbbbd9a70426994f1b159cd3deefa7b29810a	@DISEASE$: a critical analysis of 40 @PHENOTYPICFEATURE$.	false
+c4e7eb84e63c607f9ce24da8c2273bb193a04b30	@DISEASE$ is a painful benign skeletal @PHENOTYPICFEATURE$ of unknown aetiology.	false
+67c57705fa6f895c1b732bc25f2d67114f384927	Key words: @DISEASE$, carpal @PHENOTYPICFEATURE$, tumour in the os trapezium.	false
+9f758ef2e8fe54bd1e3f373c69a954d125b6d2dc	Key words: @DISEASE$, carpal tumour, @PHENOTYPICFEATURE$ in the os trapezium.	false
+66be4a839fe2aed3c6a13c0f218d7b9595e332a5	Pain that is worse at night and relieved by aspirin and muscle @PHENOTYPICFEATURE$ are the most characteristic symptoms of spinal @DISEASE$.	false
+81f89a4ac0ac83c0339426e5c61135a9b23b6207	@DISEASE$ is a benign osteoblastic @PHENOTYPICFEATURE$ lesion.	false
+8d6fd49877f4976c02f76c0e8e67af9e8685eb8b	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ in the very young.	false
+f0dce26a509b86e75fc188db8237fb82215450e1	Other phenotype features of @DISEASE$ include interstitial lung disease (ILD), Raynaud's phenomenon, polyarthritis, @PHENOTYPICFEATURE$, and mechanic's hands.	false
+f04ce4542e96b20f2a5882ba83bdfc8dcda2fb9c	Autoantibodies directed against the aminoacyl tRNA synthetases are associated with myositis, arthritis, Raynaud's phenomenon, mechanic's hands, @PHENOTYPICFEATURE$ and interstitial pneumonia, clinically referred to as the anti-synthetase syndrome (@DISEASE$).	false
+0ba2e03a606143dd803c5a18a28e5ce0d325173d	Antisynthetase syndrome (@DISEASE$) is a rare condition characterized by interstitial lung disease (ILD), inflammatory myositis, @PHENOTYPICFEATURE$, Raynaud phenomenon, mechanic's hand, and inflammatory polyarthritis in the setting of antibodies to amino acyl-transfer RNA synthetases, with anti-Jo-1 antibody being the most common.	false
+cb239109e4fcc85f84c59cbf5c2c750921d0b360	Anti-Synthetase Syndrome (@DISEASE$) is a rare autoimmune disorder characterized by Interstitial Lung Disease (ILD), inflammatory myositis, @PHENOTYPICFEATURE$, Raynaud's phenomenon, mechanic's hand, and inflammatory polyarthritis in the setting of antibodies against amino acyl-transfer RNA synthetases, with anti-Jo-1 antibody being the most common.	false
+f5bb44438446a971d2fe29022219dfb5b003f4b4	Antissintetase Syndrome (@DISEASE$) is characterized by myositis, Raunaud's phenomenon, @PHENOTYPICFEATURE$, intertitial lung disease, mechanic's hands and arthropathy associated with the presence of antibodies against tRNA synthetase, especially anti-Jo-1.	false
+d4de0e65a00c36c605b550fdb0ff72310a104263	In addition to myositis, a constellation of clinical features has also been described in @DISEASE$, including interstitial lung disease, Raynaud's phenomenon, polyarthritis, @PHENOTYPICFEATURE$ and mechanic's hands.	false
+1ddc9a3cf0bb1c9ceaf0435361572bb71e036de2	Antisynthetase syndrome (@DISEASE$) is characterised by a series of clinical manifestations such as myositis, @PHENOTYPICFEATURE$, mechanic's hands and diffuse interstitial lung disease (ILD), all associated with positivity to antisynthetase antibodies.	false
+434b03ee9bb8ce13081406b57c823c14c1bd07b4	We describe a 16-year-old female with persistent isolated @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, band keratopathy, cataracts, glaucoma and short stature.	false
+4762f455840e34fd83c3c0aebd62b6610b7e92b9	This is a report of a 13-month-old girl with @PHENOTYPICFEATURE$, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	false
+7ef925a3ae7b47a27c844770d4ef07be642768e5	The benefits of @DISEASE$ (including a potent analgesic response with a more stable therapeutic drug level, decreased latency, increased duration of action, and decreased pharmacological complications) mean that side effects such as nausea, @PHENOTYPICFEATURE$, sedation, and constipation are reduced.	false
+24439ee594d8e976f3ae7650899727d6aaefe023	For 20 peripheral @PHENOTYPICFEATURE$, paired dynamic conformal arc plans were generated by only adjusting the leaf margin to the planning target volume (PTV) edge for fulfilling the conditions such that the prescription isodose surface (@DISEASE$) encompassing exactly 95% of the PTV (PTV D95) corresponds to 95% and 80% IDS, normalized to 100% at the PTV isocenter under a pencil beam (PB) algorithm with radiologic path length correction.	false
+d81c48831ccfe9ad2df0d7c55c376df4b3da3b30	The intermittent filling and emptying of the @DISEASE$ is responsible for epigastric pain, @PHENOTYPICFEATURE$.	false
+2d5b8a024d73fa5a1b1e708dcaa8f05fd466dd18	Patients with @DISEASE$ typically present in the fourth decade of life with duration of symptoms less than 5 years that typically include pain, @PHENOTYPICFEATURE$, pancreatitis, and gastrointestinal bleeding.	false
+7991b33d33399f1bc0a9d5905fbad8cdb296f857	Differences in metabolic pathways associated with anemia and @DISEASE$ in each sex point to potential mechanisms for the associated lasting @PHENOTYPICFEATURE$.	false
+c58ff8edd9d49ee8b3fe0ef7b1207df391f73428	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (@DISEASE$) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, @PHENOTYPICFEATURE$, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	false
+73b24c088e127be5d195a33e3f48213e68ba3d20	There is a statistically significant difference of both MCV (mean corpuscular volume)/MCVr (Reticulocyte mean corpuscular volume) ratio and MCVr between IDA and controls; in controls and @PHENOTYPICFEATURE$ anemia; in controls and mixed anemia; in IDA and vitamin B12 deficiency anemia; in @DISEASE$ and mixed anemia.	false
+67532ad9395bb6f96f4bee95bb784343e5f20992	There is a statistically significant difference of both MCV (mean corpuscular volume)/MCVr (Reticulocyte mean corpuscular volume) ratio and MCVr between IDA and controls; in controls and vitamin B12 deficiency anemia; in controls and mixed anemia; in IDA and @PHENOTYPICFEATURE$ anemia; in @DISEASE$ and mixed anemia.	false
+6446f62db1b842297ced5f5db28951486eb493a9	There is a statistically significant difference of both MCV (mean corpuscular volume)/MCVr (Reticulocyte mean corpuscular volume) ratio and MCVr between IDA and controls; in controls and @PHENOTYPICFEATURE$ anemia; in controls and mixed anemia; in @DISEASE$ and vitamin B12 deficiency anemia; in IDA and mixed anemia.	false
+f601affc8e9a667bee9e66091b0c00da16e7817f	There is a statistically significant difference of both MCV (mean corpuscular volume)/MCVr (Reticulocyte mean corpuscular volume) ratio and MCVr between IDA and controls; in controls and vitamin B12 deficiency anemia; in controls and mixed anemia; in @DISEASE$ and @PHENOTYPICFEATURE$ anemia; in IDA and mixed anemia.	false
+147dfe03d6487cd6382f46a190964d46f04d2a4f	Individuals with moderate-to-profound intellectual and developmental disabilities (@DISEASE$) are characterized by significant @PHENOTYPICFEATURE$, abnormal muscle tone, poor posture and balance, and inactive lifestyle.	false
+d2654b8c1242ae57ba86ccf442a2a887af238c71	In 4-5% of patients with @DISEASE$, an ovarian @PHENOTYPICFEATURE$ process is present.	false
+0ca968c8c47e35dea7f79802ebf5950beb569eeb	Lyme carditis: @PHENOTYPICFEATURE$ of @DISEASE$.	false
+3a37e32b8ff400240741aa9498f040f0685ee355	Erroneously, the patient was diagnosed with sudden @PHENOTYPICFEATURE$ of unknown origin and subsequently with @DISEASE$ (Lyme disease).	false
+7127f11ad35a1a1fb67669fac2c20d2d17540f61	The present study aimed to determine the prevalence of seropositivity for @DISEASE$ in sudden @PHENOTYPICFEATURE$, describing clinical characteristics and outcomes.	false
+fed465bbdd6596417af243565824b70c10938361	The heart can be severely affected in humans with @DISEASE$, causing conduction defects and, rarely, @PHENOTYPICFEATURE$.	false
+2f1bf4a921788a93840acefaa1af901959b77c67	Intramedullary @DISEASE$ of the spinal cord are rare tumours, especially those not associated with @PHENOTYPICFEATURE$.	false
+90f4230b8097bf8260c61251b33240d9be3c8a56	In addition to features more commonly described in MVA such as @PHENOTYPICFEATURE$, cognitive deficits, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, @DISEASE$, ventricular septal defect, and subaortic stenosis.	false
+fa7928bb778ff478c61f8e33534af4527dacedc4	In fact, ion channel defects ("channelopathies" - the focus of this review series) have been associated with a spectrum of serious human disease phenotypes @DISEASE$ fibrosis, @PHENOTYPICFEATURE$, diabetes, skeletal muscle defects, and neurological disorders.	false
+a31122c4109005c2d4af747bce121e1b7e6a3ea2	Intradural extramedullary @DISEASE$ are rare tumors especially those not associated with @PHENOTYPICFEATURE$.	false
+c8ba58998deb7cddc51d10e125884d81ed148d36	A family with three members in two generations affected by pachyonychia congenita, @PHENOTYPICFEATURE$ and hyperhidrosis of the palms and soles, follicular keratosis, neonatal teeth and @DISEASE$ (Jackson-Lawler syndrome) is described.	false
+1b04581c08687d5ed4d5ae080dac506c6d6f0b00	A family with three members in two generations affected by pachyonychia congenita, hyperkeratosis and @PHENOTYPICFEATURE$ of the palms and soles, follicular keratosis, neonatal teeth and @DISEASE$ (Jackson-Lawler syndrome) is described.	false
+bb3ab868569afd25bc1ff31f76914beccd7ba92e	After providing an overview of the problem, including a discussion of prostheses, we review the following problems: mechanically induced blisters, follicular keratoses, @DISEASE$, stump @PHENOTYPICFEATURE$ syndrome, acroangiodermatitis (pseudo-kaposi sarcoma) and verrucous hyperplasia.	false
+01ecd6285250884af86a2b544ae9c4c23b327346	The frequency of mutations were determined in 116 FTD, 8 progressive supranuclear palsy (PSP) and 3 corticobasal syndrome (CBS) patients and haplotype diversity were analyzed in a study cohort comprising 116 FTD, 8 PSP, 3 CBS, 194 other dementia groups, 78 mild @PHENOTYPICFEATURE$ (MCI) and 130 cognitively normal individuals and report no pathogenic mutations in FTD/@DISEASE$ or haplotypic association with disease risk in FTD or other dementia patients.	false
+6f5cc0b67af10d87d754805862d38ee4c3a718a1	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with @PHENOTYPICFEATURE$, @DISEASE$, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+dfc3bd354d922d7e88791299fd728d0e3d1bd3d3	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, Refsum's disease, @DISEASE$, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+353297617f02ba1b9abda7c18ae9b9fee8e82326	Macular SD-OCT of 27 eyes with @DISEASE$ revealed intraretinal @PHENOTYPICFEATURE$ (59%), intraretinal exudates (67%), subretinal fluid (37%), subretinal exudate (48%), ellipsoid zone disruption (52%), external limiting membrane disruption (41%), and subfoveal nodule (26%).	false
+8427a873e36498549a877f74fc5d60744da7c664	Intravitreal injection of triamcinolone acetonide to treat cystoid foveal @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+52009401858dac3d2db2747c66a1e84e7189dde4	The NDP deletion could account for the @DISEASE$ and the CASK deletion for the @PHENOTYPICFEATURE$, while CASK and KDM6A have both been associated with coloboma.	false
+5c880cb5d35e037510c77313209e3e991f5fc0c6	A 28-year-old man with unilateral @DISEASE$ and cystoid macular edema secondary to juxtafoveolar telangiectasis underwent successful juxtafoveolar argon green laser photocoagulation therapy with resolution of the @PHENOTYPICFEATURE$ and improvement in metamorphopsia and visual acuity.	false
+6d1d11006840118f34f7326010d0cbcf06eb866e	To investigate the efficacy of intravitreal injection of triamcinolone acetonide (TA) for treatment of cystoid foveal @PHENOTYPICFEATURE$ (CFE) associated with @DISEASE$.	false
+36b7af71c9735453a705c5febc8b41f9b576d661	In 1988 we reported two sisters with bilateral @DISEASE$, @PHENOTYPICFEATURE$, dystrophic nails, and primeval splashes of intracranial calcification.	false
+552ce0c995f0cf53fea514859e932b2501f3fcc4	Distinct mutations in PDGFRB have been shown to cause @DISEASE$, idiopathic basal ganglia calcification, and an @PHENOTYPICFEATURE$ disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome.	false
+b3e7e49fec36dc8dd808393a9606ec55bfb37056	We report a case of @DISEASE$ in a liver transplant patient who had @PHENOTYPICFEATURE$.	false
+a41d0b19baba217d6b9e73da3005e09238d03fc0	Patisiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of hereditary ATTR (@DISEASE$) amyloidosis, a progressive disease associated with significant @PHENOTYPICFEATURE$, morbidity, and mortality.	false
+e63e8acd98c3b98541b5945c8635708ca944d5fb	@DISEASE$ with interstitial @PHENOTYPICFEATURE$.	false
+8d7c9eb7911105ccade59b4ca91eb1d018857cc1	Intracranial cystic lesions and @PHENOTYPICFEATURE$ associated with @DISEASE$: Sonographic findings in two cases.	false
+92cc42b4324c2be2a068a9e3fbe5f3f965ea0e97	A family with one child with @DISEASE$, one child with anencephaly-@PHENOTYPICFEATURE$, and parental consanguinity.	false
+b0901d2d24d2170ca4c1e11835b7c7b2b4b1d084	We describe two mentally retarded brothers with craniofacial anomalies, @PHENOTYPICFEATURE$, and other clinical manifestations compatible with the @DISEASE$ (ACS).	false
+55c7575c0357939341f272db097e5d53bb0278b8	We describe two mentally retarded brothers with craniofacial anomalies, @PHENOTYPICFEATURE$, and other clinical manifestations compatible with the acrocallosal syndrome (@DISEASE$).	false
+ffbae2769a78fdd517a947babee264091794b1d3	Three families with Greig cephalopolysyndactyly are reported, the relationship with pre-axial @PHENOTYPICFEATURE$ type IV and the @DISEASE$ is discussed.	false
+785261586353ee7eaabf518fdec7f50c4f64c7b6	Perianesthesia Phase I nurses indicated high encounters, competency, and recent training for all topics except for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3bd9ead21a00792a147ccedd31ce7ff96b9f41d0	She was noted to have craniofacial abnormalities suggestive of @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$.	false
+2ad0a683d1109576a5343cd7adb67ad04c4a7c2a	@DISEASE$ (ACLS) is a rare genetic disorder characterized by agenesis or hypoplasia of corpus callosum (CC), @PHENOTYPICFEATURE$, craniofacial dysmorphism and severe intellectual deficiency.	false
+e67a934e1f83424dde3d003eedd9258ccbd01fe8	Acrocallosal syndrome (@DISEASE$) is a rare genetic disorder characterized by agenesis or hypoplasia of corpus callosum (CC), @PHENOTYPICFEATURE$, craniofacial dysmorphism and severe intellectual deficiency.	false
+87d6cb15af73c58c8569f07acd61c06f335606d0	@DISEASE$ is characterized by agenesis of the corpus callosum, craniofacial anomalies, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+2ebc116344b1392598a574490b4534e0070b519f	@PHENOTYPICFEATURE$ was associated with more frequent @DISEASE$ episodes (0.39 vs 0.20 events per patient year, P < .001)	false
+9539d30ceb316a0a526da9db393b017825dd2f11	Case report of young patient with @DISEASE$-producing @PHENOTYPICFEATURE$ is presented.	false
+3c714de10127f8913f0dfd263ef0d61426d83fd1	Patient with the mesomelic dysplasia, @DISEASE$, and cerebellovermian agenesis and @PHENOTYPICFEATURE$.	false
+3769afebd5a3e12d4f5a13374b1ed8ddc4b6f614	Included in this category of skeletal disorders is the @DISEASE$, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual @PHENOTYPICFEATURE$, radioulnar synostosis, and dysplasia of the elbow and knee joints.	false
+f9d65481dae9ffd51b4d62501b0a7a6f8af37bc3	Besides the characteristic mesomelic limb anomalies of @DISEASE$, this patient exhibited two additional features: agenesis of the cerebellar vermis and @PHENOTYPICFEATURE$, both of which have not been previously reported.	false
+8a694dff7d0537f576f2c363e8fdae5ed4f041cf	Analysis of Ki-ras codon 61 in seven @PHENOTYPICFEATURE$ from DMBA-treated mice revealed three types of mutation: two cases with CA[C or G or T], one case with @DISEASE$ and one case with CTA (the remaining cases having only the wild type).	false
+2b49fa9c4c3d3b1e0260563173f740ba1a0e8cb3	The cerebellar cognitive affective syndrome (@DISEASE$) was first described by Schmahmann and Sherman as a constellation of symptoms including dysexecutive syndrome, spatial @PHENOTYPICFEATURE$, linguistic deficits and behavioural abnormalities in patients with a lesion in the cerebellum with otherwise normal brain.	false
+5a8edcfb8e756de58d930509c3a04e26e4716451	In this article we report a newborn infant diagnosed with @DISEASE$ who developed a femoral fracture possibly due to @PHENOTYPICFEATURE$ and birth injury in spite of cesarean delivery.	false
+a333ec2e9d6c3604b0c71d74f87dbb26e43d97c4	@PHENOTYPICFEATURE$ should be included in the clinical features associated with @DISEASE$.	false
+1b37f685ddf2e35ce8bbf34066f186f8bbd8886d	We describe @PHENOTYPICFEATURE$ in two children, one with DiGeorge and the other with @DISEASE$.	false
+5485d61ea0926dc385432070b9604a82609c2acd	@PHENOTYPICFEATURE$ have been addressed in @DISEASE$, but the underlying mechanisms are still poorly understood.	false
+00600fc5e1edc9b69b6e3368d22d697fa665d22b	Quantitative analysis of @PHENOTYPICFEATURE$ in @DISEASE$: correlation with diagnosis and characteristic CHARGE anomalies.	false
+18dba2ea4a26da053ccfaae70723ccecc670db88	@PHENOTYPICFEATURE$ are present in just over one-third of @DISEASE$ patients.	false
+99e17a5a23e1d0f2f22bfa52adb1b931bc7ea154	The expanded spectrum of the DiGeorge and @DISEASE$ includes @PHENOTYPICFEATURE$.	false
+308dc07ab0d7707ea2252ab5c79651386ef8c361	The presence of @PHENOTYPICFEATURE$ in approximately one-third of CHARGE syndrome patients fulfills criteria #3 above, in that limb anomalies were not felt to be a part of @DISEASE$ until relatively recently.	false
+235faa8b51ad744d83bcad67ffb279ceafbf1215	The presence of @PHENOTYPICFEATURE$ in approximately one-third of @DISEASE$ patients fulfills criteria #3 above, in that limb anomalies were not felt to be a part of CHARGE syndrome until relatively recently.	false
+4bb94b34314a82dcc65eaa5a3d0ecd1715c5a2d2	To date, there have been no quantitative studies of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+31e9774b08abed447be1ff110e9c5f10f0344d45	There is not a common @PHENOTYPICFEATURE$ seen in @DISEASE$.	false
+e4364988c25dde4e5e583c659c62737cf59527cb	Are there correlations between certain @DISEASE$ anomalies and limb anomalies?Are there differences between the two genders and associated @PHENOTYPICFEATURE$?	false
+ee8ff67ed88b3a0cfbd4201fcb297e85dfd805a5	Overweight and @PHENOTYPICFEATURE$ are believed to be risk factors for gastroesophageal reflux disease (@DISEASE$).	false
+ecda9f210a94c738af6acc484d38f01c2cc9168b	Overweight and @PHENOTYPICFEATURE$ are believed to be risk factors for @DISEASE$ (GERD).	false
+0843095548bf38cfc17e0a629b3d092f38a8757d	@DISEASE$ disease (GERD) is considered a gastrointestinal manifestation of the metabolic syndrome and is associated with @PHENOTYPICFEATURE$/overweight.	false
+f20659e8e0658c29ceda9021b154ea23ca38a9f9	Gastro-esophageal reflux disease (@DISEASE$) is considered a gastrointestinal manifestation of the metabolic syndrome and is associated with @PHENOTYPICFEATURE$/overweight.	false
+3ddefe411225960054310badfee255dc5a2d4405	@DISEASE$ symptoms were associated with @PHENOTYPICFEATURE$ and respiratory diseases.	false
+d81d932cb35e3fd0da086842a9093606b3967f90	@PHENOTYPICFEATURE$ is becoming more important in gastroesophageal reflux disease (@DISEASE$) patients.	false
+62f08c708346822d7c68ef581d37dc08ca14c93a	Gastroesophageal reflux disease (@DISEASE$), @PHENOTYPICFEATURE$, valvular heart disease.	false
+420296e9bc4bcfe9ed351dc7f1180ec9fefe0bfc	In adults, it has been shown that @PHENOTYPICFEATURE$ is associated with gastroesophageal reflux disease (@DISEASE$) and GERD-related complications.	false
+3d6d166e79644968844c5d13ea70626e0e444844	In adults, it has been shown that @PHENOTYPICFEATURE$ is associated with @DISEASE$ (GERD) and GERD-related complications.	false
+f9fa2585ef3c2b3826220ea0b4cb3d87d70ccb0f	To discuss the occurrence correlation between @PHENOTYPICFEATURE$ hypopnea syndrome (OSAHS) and gastroesophageal reflux disease (@DISEASE$).	false
+ba0d14d555a95b1ff91af5c7905d4732eda6303d	Metabolic syndrome and @PHENOTYPICFEATURE$ are known risk factors for gastro-esophageal reflux disease (@DISEASE$), especially for erosive esophagitis.	false
+a83d753dd5475f0d2718157e3ef54ca9761cf641	Metabolic syndrome and @PHENOTYPICFEATURE$ are known risk factors for @DISEASE$ disease (GERD), especially for erosive esophagitis.	false
+a1afd965798ea89b0aa29a275282cf37a82f334b	@DISEASE$ disease and @PHENOTYPICFEATURE$, where is the link?	false
+fd5d6382078f911bda2f58c010017c81260a8244	The relationship between @PHENOTYPICFEATURE$ hypopnea syndrome and @DISEASE$: a meta-analysis.	false
+fa029ad63bed339177df915afc018ebff82c6599	@DISEASE$ (WDS), or congenital suprabulbar paresis, is a permanent @PHENOTYPICFEATURE$ of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development.	false
+9a32eefe2a36aff4b2ca26ff2db256a3a5d41713	A 67-year-old patient with newly diagnosed @DISEASE$ developed acute respiratory failure with high-grade fever and bilateral @PHENOTYPICFEATURE$.	false
+236f79c3b156a14eb63cbd4c15712053208e5d3e	We studied a patient with @DISEASE$, hypercalcemia, @PHENOTYPICFEATURE$ and inappropriately elevated serum parathyroid hormone levels to define the mechanism of the hypercalcemia.	false
+391afcf271e39e28ad04474ef1e779d1cfcdf5c6	A 33 year old man, with pre-existing psoriasis and a family history of multiple occurrence of @DISEASE$ and other myeloproliferative disorders, developed steroid-responsive ulcerating skin lesions, pancytopenia, marrow hypoplasia, @PHENOTYPICFEATURE$ and polyarthritis.	false
+6443ae2084750298df8db50f2479c9af6a00260a	[@PHENOTYPICFEATURE$ in pulmonary leukostasis in @DISEASE$].	false
+99f6524c9dab7e27a89562a879e252972bea2b18	Seventy-two adult patients with previously untreated @DISEASE$ received the CHA regimen as induction chemotherapy: CCNU 80 mg/m2 on day 1, Adriamycin 35 mg/m2 i.v. on days 1, 2 and 3, and continuous infusion of cytarabine 100 mg/m2/24 h from day 1 to 10. Forty-nine patients (68%) presented at least one of the following symptoms: acral erythema with dysesthesias in the palms and/or soles (39%); cholestatic hepatitis (39%); profuse sterile diarrhea associated with abdominal distention (33%); acute cerebellar dysfunction (32%) and non-cardiogenic @PHENOTYPICFEATURE$ (21%).	false
+98b4aa270417f323127fef5af2dbf423b73b84a9	A 21-year-old patient with @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+3db934f5ee0227b90281d7cdb8604c2e9658f482	Carcinogenic effects of cyclophosphamide, especially its toxic metabolite acrolein that is excreted into the urine, are responsible for the development of acute myeloid leukemia (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+03a84ed3a20dc1e0557bed2e393f426b5eab74ea	Carcinogenic effects of cyclophosphamide, especially its toxic metabolite acrolein that is excreted into the urine, are responsible for the development of @DISEASE$ (AML) and @PHENOTYPICFEATURE$.	false
+f440ff7222efcf03b218212e1e9f193b24a256cf	Hypokalemia, @PHENOTYPICFEATURE$ and hypouricemia due to proximal renal tubular dysfunction in @DISEASE$.	false
+1ce54fcd438a2a049b6a2870f59ca8d3ff0bcc03	We report a case of @DISEASE$ receiving unrelated BMT to develop acute @PHENOTYPICFEATURE$ rapidly after intravenous injection of naloxone.	false
+3f83e46348b2d1beb91c3ba8bdbb2ca27d9a021c	A 17-year-old boy, who had received chemotherapy for a relapse of @DISEASE$, manifested a brief loss of consciousness and acute @PHENOTYPICFEATURE$ immediately after the removal of a triple-lumen subclavian catheter.	false
+0568c421cd63851cb7eec7004c912f8dcc60a31e	Abundant expression of C1r and C1s by @PHENOTYPICFEATURE$ cells was detected in invasive sporadic cSCCs and @DISEASE$-associated cSCCs, whereas the expression of C1r and C1s was lower in cSCC in?situ, actinic keratosis and normal skin.	false
+3f469ffd3b0b55f3dc474c54ff9f1f39e97a0911	To study native matrices produced by primary dermal fibroblasts isolated from patients with a @PHENOTYPICFEATURE$ prone, genetic blistering disorder (@DISEASE$), we have adapted an existing native matrix protocol to study tumor cell invasion.	false
+d2b8b08bae3288b6bfb8835ae68afd306135e576	To study native matrices produced by primary dermal fibroblasts isolated from patients with a tumor prone, genetic blistering disorder (@DISEASE$), we have adapted an existing native matrix protocol to study @PHENOTYPICFEATURE$ cell invasion.	false
+cb4f43f239740ab829b60ba1881d1747512533d2	NETs are present in the microenvironment of keratinocyte-derived tumors in mice and lesional and @PHENOTYPICFEATURE$ skin of patients?suffering from @DISEASE$, a disease in which skin blistering?predisposes to tumorigenesis.	false
+8c1858601c84126ea5367918ae6f42db4c6f6e02	NETs are present in the microenvironment of keratinocyte-derived @PHENOTYPICFEATURE$ in mice and lesional and tumor skin of patients?suffering from @DISEASE$, a disease in which skin blistering?predisposes to tumorigenesis.	false
+d0a6794dc6e642af7470b463ecf4ea2c9fc6e838	Immunostaining of tissue arrays with 148 human tissue samples revealed @PHENOTYPICFEATURE$ cell-associated expression of SerpinA1 in 19 of 36 actinic keratoses, 22 of 29 Bowen's disease samples, 67 of 71 sporadic SCCs, and all 12 @DISEASE$-associated SCCs examined.	false
+ed6cd8f88fdb0be6f8d644b0ba9761d2545521da	Type I collagenase plays an important role in both @PHENOTYPICFEATURE$ metastasis and the remodeling of connective tissue in normal human skin, during wound healing, for example, and may participate in the pathophysiology of some dermatological diseases such as skin cancer and a chronic blistering disease, @DISEASE$.	false
+37e96ecdbfd9ea2c0ceb88670cf9abf2dc4903ff	Immunohistochemical analysis for CFI in vivo showed stronger @PHENOTYPICFEATURE$ cell-specific labeling intensity in invasive sporadic cSCCs (n=83) and @DISEASE$-associated cSCCs (n=7) than in cSCC in situ (n=65), premalignant epidermal lesions (actinic keratoses, n=64), benign epidermal papillomas (seborrheic keratoses, n=39), and normal skin (n=9).	false
+b8090cdb31024ee8bdd292abf3a59210cb632c37	Squamous cell carcinoma secondary to @DISEASE$: report of eight @PHENOTYPICFEATURE$ in four patients.	false
+a67a8815f266cb662533885a7e49cdb420a6b2f4	Immunohistochemical staining revealed stronger @PHENOTYPICFEATURE$ cell-specific labeling for C3 and CFB in invasive cSCCs (n?=?71) and @DISEASE$-associated cSCCs (n?=?11) than in cSCC in situ (n?=?69), actinic keratoses (n?=?63), and normal skin (n?=?5).	false
+4a2cf9dff1becdb77cce1eba0c79715d607ad905	Surgical treatment of a @DISEASE$ patient is very difficult for both the surgeon and the anesthetist because of the fragility of the skin and abnormal nature of the @PHENOTYPICFEATURE$ bed.	false
+23be44c47c1a0b8a32a8f82779e2375762b1ca4c	Involvement of p53 and p16 @PHENOTYPICFEATURE$ suppressor genes in @DISEASE$-associated squamous cell carcinoma.	false
+ce8f319e5c0d1378a16beda7d1dc4f0793b1bdd9	@DISEASE$ is a congenital malformation with a pentalogy characterized by defects involving the abdominal wall, lower sternum, anterior diaphragm, and diaphragmatic pericardium, as well as congenital @PHENOTYPICFEATURE$.	false
+646765659d7bd0848f21a4e7ef3acca2d573377e	Surgical correction of @DISEASE$ is often associated with an extremely high mortality rate due to the possibility of wound infection or the severity of @PHENOTYPICFEATURE$.	false
+54ee70e1ad2a0d80678bb62b4d535dc8eb3a34af	@PHENOTYPICFEATURE$ foot blistering is a common problem in patients with epidermolysis bullosa simplex (@DISEASE$) and pachyonychia congenita (PC).	false
+26d30ca7ad61f2a5848a8c3cb93089dc038abb06	@PHENOTYPICFEATURE$ and ophthalmoplegia associated with @DISEASE$-muscular dystrophy.	false
+a894e70f85d7638747eb3caf9e597583c0a8ea5b	We report a patient with @DISEASE$, cardiac and @PHENOTYPICFEATURE$.	false
+ec41773f357fd00522d2c7f93861589755139d5e	@DISEASE$ are a heterogeneous group of disorders with variable spectrum and severity of @PHENOTYPICFEATURE$ in the affected individuals.	false
+ac612f1dc1cb5da772fbd0e4a8971f419f0fb9ac	From the random effects meta-analysis, the pooled prevalence of HPV DNA in @DISEASE$ was 10.0% (95% CI: 5.2-16.2) with large between-study @PHENOTYPICFEATURE$ (I(2)=88.2%,	false
+9d454e3668c59fc106f769f81fedf6c14b5d078f	For survival and QoL scores, worse scores for pain were statistically significantly associated with reduced survival for women diagnosed with ovarian cancer, while reduced overall QoL, physical, role and emotional functioning as well as increased @PHENOTYPICFEATURE$, pain, dyspnoea and appetite loss were associated with reduced survival for women diagnosed with @DISEASE$.	false
+070902c79a733340e9ef71f1f121fdd71f32723a	A 71-year-old female with a history of @DISEASE$ presented to our hospital with bilateral lower quadrant @PHENOTYPICFEATURE$, which had been worsening over the past two months.	false
+65e87956e0a7ac3849c99bebbd8f7bf1ab5eb8cb	The risk of @DISEASE$ increased both in consecutive generations and over time in 11 of 23 populations, with the increases more pronounced in Japan, the Philippines, Belarus, Singapore, @PHENOTYPICFEATURE$ Rica, and New Zealand.	false
+b4696513e9dcc1f2a08c8d0f075c3e67d8cd8cb3	This is a report of a 54-year-old woman with @DISEASE$ who presented with nausea, @PHENOTYPICFEATURE$ and abdominal pain 1 week following laparoscopically-assisted vaginal hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy.	false
+f1ec39e9d1a9b61806b7fe5382303647b139c90c	Robotic-assisted surgical staging for @DISEASE$ is associated with decreased requirement and expenditure attributable to post-operative pain, post-operative @PHENOTYPICFEATURE$, and maintenance and replacement fluid therapy.	false
+7e8da5e9b6c68543462fc566343a743c9772149f	@DISEASE$ (MEN 2) is an autosomal dominant cancer syndrome with major components of medullary thyroid carcinoma (MTC), pheochromocytoma and @PHENOTYPICFEATURE$.	false
+d2a12c3537e1789df5a47497ec76cc15e50d9dda	@DISEASE$ (MEN 2) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and @PHENOTYPICFEATURE$.	false
+a80def03e02f92538eed3226849c28be09784f7e	Thus, the genes causing X-linked hypophosphataemic rickets, Lowe syndrome, X-linked recessive @PHENOTYPICFEATURE$, Di George syndrome, multiple endocrine neoplasia type 1, @DISEASE$ and vitamin D-dependent rickets type I have been mapped.	false
+97de8ea7386915c68e8705cdbfaace129a90a42d	Role of the RET proto-oncogene in sporadic @PHENOTYPICFEATURE$ and in hyperparathyroidism of @DISEASE$.	false
+22a250968121f7ac49235eeaae0f460005c1c529	Germline mutations of RET proto-oncogene are connected with inherited cancer syndrome @DISEASE$. The syndrome is characterized by incidence of medullary thyroid carcinoma frequently associated with pheochromocytoma and @PHENOTYPICFEATURE$.	false
+73cf8bff171aa798b4c628c5886e07fda879e7f9	@DISEASE$ (MEN2) is a syndrome characterized by medullary thyroid carcinoma (MTC), unilateral or bilateral pheochromocytoma and @PHENOTYPICFEATURE$.	false
+cbb7bab2b0c28ba0194ef374f10861978931256b	MTC is an obligatory component of @DISEASE$ (MEN2), which comprises three well defined syndromes: MEN2A, which may be associated with pheochromocytoma and/or @PHENOTYPICFEATURE$; the much rarer MEN2B, which occurs early and is accompanied by developmental abnormalities; while in contrast, familial MTC (FMTC) is not associated with any endocrinopathy.	false
+654e673680223d155d1a15532a23183f2d1679f8	The most attentive clinical problem in patients with branch atheromatous disease (@DISEASE$) is early @PHENOTYPICFEATURE$ (END).	false
+60b58aeb595576ae608509e4f75033b453a301b7	A 13-year-old boy with features of @DISEASE$ consisting of facial anomalies, heterochromia of the iris and fundus, and congenital sensorineural deafness had a marked mental and motor retardation and developed severe gait disturbance associated with @PHENOTYPICFEATURE$ including dystonia, muscular stiffness and peripheral neuropathy.	false
+782eb762b0192fe20f8f23a418ffd89f83e2d557	Our method suggests a yeast model for angiogenesis defects, a worm model for breast cancer, mouse models of @PHENOTYPICFEATURE$, and a plant model for the neural crest defects associated with @DISEASE$, among others.	false
+ed2a58a6da10264df630af412ccc08cb1af0fc2f	Bilateral microphthalmia with cyst, facial clefts, and @PHENOTYPICFEATURE$: a new syndrome with features of @DISEASE$, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.	false
+d6ec0787c4c893cd9cb4ad32b47a08f831aac2ec	The proposed theory might influence the current understanding of such frequent and difficult to treat diseases as chronic back pain, headaches, frequent cystitis, enuresis, @PHENOTYPICFEATURE$, flank pain and might spur new theories of arterial hypertension, @DISEASE$, prostate diseases and myelopathies.	false
+998c0e9084eddb6d6943694efa4bdecefe255148	The February COM: A man of 78 years with @DISEASE$ developed @PHENOTYPICFEATURE$ in association with a high ESR and positive pANCA.	false
+c6e0c5e94bb445f516bb5b962c09b80409317e4f	The antitumor efficacy of NLE-CDDP on @DISEASE$-2 @PHENOTYPICFEATURE$ is higher than that CDDP alone, and its mechanism is delaying rapid clearance from circulation.	false
+c71bb29eeaa2d27a0258105147da84b032fab63e	On the basis of the protective effect of autophagy for @PHENOTYPICFEATURE$, the present study investigated whether U2OS and @DISEASE$-2 osteosarcoma cells activate autophagy to reduce Dox-induced apoptosis.	false
+cf47d2c0ae4cba736a20e2c333a1c48474b1aebc	@DISEASE$-2 osteosarcoma cells bind fibroblasts via ICAM-1 and this is increased by @PHENOTYPICFEATURE$ necrosis factor-?.	false
+96136627f0b374ebbe5c54ceddf98a91b42aace6	twice weekly at 0.12 mg/kg to @DISEASE$-2 tumor-bearing mice resulted in primary @PHENOTYPICFEATURE$ growth inhibition, reduction in lung metastases, and dramatic decrease in osteolysis.	false
+e66464c6eae9dc2afc8e73fcfbd7e3af3ceafe11	twice weekly at 0.12 mg/kg to @DISEASE$-2 @PHENOTYPICFEATURE$-bearing mice resulted in primary tumor growth inhibition, reduction in lung metastases, and dramatic decrease in osteolysis.	false
+5fd8bac90e5bf76155865e7ef5fbf17991622d21	Orthotopic @PHENOTYPICFEATURE$ were induced by intra-tibial injection of @DISEASE$-2 osteosarcoma cells.	false
+2a7baba3184e53ae8cfb80dabf69b04da9185a91	In addition, this ATG4B antagonist had a negative impact on the development of @DISEASE$-2 osteosarcoma @PHENOTYPICFEATURE$ in vivo.	false
+78e4269a5dd72a87d2685cf73f02b6c28372c046	The PP region was dispensable for DNA binding, inhibition of @DISEASE$-2 @PHENOTYPICFEATURE$ cell growth, suppression of E1A + RAS cell transformation, and cell cycle inhibition.	false
+f8e664711be435cfbcc81527b377040fdfe3d20a	In vivo, RECK inhibited @DISEASE$-2 @PHENOTYPICFEATURE$ growth, bone destruction, and consequent metastasis.	false
+01b4d0ec16d66d05221d1652a2e9d11605549eea	@DISEASE$-2 @PHENOTYPICFEATURE$ cell-induced platelet aggregation (TCIPA) was completely inhibited by hirudin but unaffected by apyrase.	false
+baad140ae47396271fec59e59068a2808892dd35	The clinical features include minimal anterior uveitis, vitritis, retinal vasculitis, @DISEASE$, and distinctive @PHENOTYPICFEATURE$ choroidal lesions.	false
+7355c85a660951f1b38dfb3b4fcf8e545fd929af	Of great interest is the recent identification of novel Pi regulating genes, PHEX and FGF23, that play a role in the pathophysiology of inherited (X-linked hypophosphatemia and @DISEASE$) and acquired (oncogenic hypophosphatemic rickets) disorders characterized by renal Pi wasting and associated @PHENOTYPICFEATURE$.	false
+3472be11b572e8661c7297cd8a49ad03da4a1747	@DISEASE$ (HH) is a common autosomal recessive disorder that can result in iron overload and a wide range of clinical complications, including hepatic cirrhosis, diabetes mellitus, hypopituitarism, @PHENOTYPICFEATURE$, arthritis, and cardiomyopathy.	false
+a18f71c9dcbb1b2c19b58cf0ab64abc33f15b3a1	Young individuals who should be screened for iron overload include patients with cardiac myopathies, @PHENOTYPICFEATURE$, amenorrhea, loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the liver, and arthritis, as well as the siblings, parents, and children of patients with @DISEASE$ or iron loading of unknown cause.	false
+bf12010b3eb419235427221f0f6598a90eac2c2d	@DISEASE$ (HH) is a @PHENOTYPICFEATURE$ disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis.	false
+8e64ecc87ae6d57c392abba7a25a991d401fd9dd	@DISEASE$ (HD) is characterized by chorea, balance and gait impairments, and @PHENOTYPICFEATURE$, which increase fall risk.	false
+3553221443efa737eb8538a34ac067260d88607c	Huntington's disease (@DISEASE$) is characterized by chorea, balance and gait impairments, and @PHENOTYPICFEATURE$, which increase fall risk.	false
+8af9a76e10ce596de0f243e8230ac76c91caab96	@DISEASE$ (HD) is a neurodegenerative disease associated with @PHENOTYPICFEATURE$.	false
+237eb91d6566b15831869d5613edd77c9235ea5f	@PHENOTYPICFEATURE$ in @DISEASE$: diagnosis and treatment.	false
+415597764cfc1c6520193b27bb50c2f6a853536a	@PHENOTYPICFEATURE$ characteristics in @DISEASE$ patients: insights from the Fiberoptic Endoscopic Evaluation of Swallowing and the Swallowing Disturbances Questionnaire.	false
+1b4a68596b797f8098237227249481943a79ff7e	Although not the most obvious symptom of @DISEASE$ (HD), difficulty swallowing, or @PHENOTYPICFEATURE$, is a common symptom and may be associated with fatal complications.	false
+df33ab32cb4c52bf3926048ba1f3d17b0acc1231	Although not the most obvious symptom of @DISEASE$ (HD), @PHENOTYPICFEATURE$, or dysphagia, is a common symptom and may be associated with fatal complications.	false
+c0ab4bf713e17550beb646b233792003b597232d	Differential @PHENOTYPICFEATURE$ in Alzheimer's disease and @DISEASE$.	false
+7beba3db41550e7bc5e38a750a05e4dc4f27cd93	This is especially true in @DISEASE$, where @PHENOTYPICFEATURE$ is prominent.	false
+c046908ae61531c0dd401b72edbf83f40e42bd36	@PHENOTYPICFEATURE$ and behavioural difficulties in patients with @DISEASE$.	false
+1cf449d1156443acf432fab0a5c1c1cba126ef85	A clinical classification acknowledging neuropsychiatric and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+697896cce0a0c3dca53dbac4ae21aaa7f132538b	The relationship between impairment of voluntary movements and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c5e6f5190dae0477fba677833c483400e2dd1222	Intrauterine transmission can lead to congenital CMV infection, a leading cause of @DISEASE$ hearing and vision loss and neurological @PHENOTYPICFEATURE$ among children.	false
+c852f025e2482195e2706bdd73e6345d95ca1e2b	This report provides the first videotape example of a patient with @DISEASE$ @PHENOTYPICFEATURE$ from high dose cytosine arabinoside.	false
+d47a869eb484010c2b8e12be5f79a7437fc939e6	This genetically and clinically heterogeneous disorder is often accompanied by @DISEASE$ ataxia, @PHENOTYPICFEATURE$, mental retardation, and chronic progressive cerebellar atrophy.	false
+387b3022f191e067db03a9f8a0e28bef59dc6756	This genetically and clinically heterogeneous disorder is often accompanied by @DISEASE$ ataxia, epileptic seizures, @PHENOTYPICFEATURE$, and chronic progressive cerebellar atrophy.	false
+9896a9076b948fed55d0e6787e7151417d55fa00	This genetically and clinically heterogeneous disorder is often accompanied by @DISEASE$ @PHENOTYPICFEATURE$, epileptic seizures, mental retardation, and chronic progressive cerebellar atrophy.	false
+b9288f69f6dc2092e972acb74aeef7f2560b384e	Does malnutrition cause @DISEASE$ @PHENOTYPICFEATURE$ in human beings?	false
+d4e9d286621c59438faf67f20563fb88b19a1c9a	The patient also had mental retardation, @DISEASE$ @PHENOTYPICFEATURE$ with cerebellar atrophy, and right-sided brain atrophy.	false
+0ccb0af24840d0b77f73bc220f9e58fbc73e3215	The patient also had @PHENOTYPICFEATURE$, @DISEASE$ cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy.	false
+05e654ee63e21919b0097177c30b9f73712f3b50	Transient spinal cord ischemia in humans can lead to the development of @DISEASE$ paraplegia with prominent @PHENOTYPICFEATURE$ and rigidity.	false
+24729389d79f3da7e507a2e6ea3d79f63fe8a843	The clinical spectrum includes atypical symptoms such as impaired consciousness, @PHENOTYPICFEATURE$, @DISEASE$ cerebellar ataxia or mental retardation.	false
+d87cab9df08dacb324313d61c6280d49f57a2024	The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, @DISEASE$ @PHENOTYPICFEATURE$ or mental retardation.	false
+02954b075a84260ed6f0d4d7122f6382f325f3d6	The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, @DISEASE$ cerebellar ataxia or @PHENOTYPICFEATURE$.	false
+88f663e1b60ec5c789a4ca5426b877cc866be261	The clinical manifestations of hemiplegic migraine range from attacks with short-duration hemiparesis to severe forms with recurrent coma and prolonged hemiparesis, @DISEASE$ cerebellar ataxia, epilepsy, transient blindness, or @PHENOTYPICFEATURE$.	false
+72853e15485116f4366bc39dae8aa0c5f881e4c0	The clinical manifestations of hemiplegic migraine range from attacks with short-duration hemiparesis to severe forms with recurrent coma and prolonged hemiparesis, @DISEASE$ @PHENOTYPICFEATURE$, epilepsy, transient blindness, or mental retardation.	false
+d9d96edce4bb65de7af70050934c5da452efdf31	@DISEASE$ @PHENOTYPICFEATURE$ in children may be caused by ATP1A2 mutations.	false
+67ff86dd73812caa3508adb5d13bd6a375b9d6d7	In 20% of HM families, HM is associated with a mild @DISEASE$ @PHENOTYPICFEATURE$ (PCA).	false
+16e02af712a528671897ffd58caf930f5aa967b7	Eye-rubbing is also often a feature of a number of conditions linked to keratoconus such as Down syndrome, @DISEASE$, @PHENOTYPICFEATURE$, and Lebers' congenital amaurosis.	false
+84a62d4ac00a190535bd97ba65b6c06b79d16824	Clinical manifestation of these patients included @PHENOTYPICFEATURE$, counting difficulty, personality change, disorientation, dyscalculia, agnosia, aphasia, and apraxia, which was similar to that of the familial AD (@DISEASE$) patients harboring other PS1 mutations.	false
+103146723785cb54022ea3b43ec4a91137494e5e	Three clusters were identified: fatigue/anorexia-cachexia/depression (@DISEASE$), sleep/anxiety/@PHENOTYPICFEATURE$ (SAD), and pain/dyspnea (PD).	false
+4ecd81532bfd4440cc7b31f2050ba969d3284348	In 6-month-old 5 ? @DISEASE$ mice exhibiting hippocampus inflammation and @PHENOTYPICFEATURE$, oral administration of iso-?-acids for 7 days reduced inflammatory cytokines, including MIP-1? and soluble A? and improved object memory in the novel object recognition test.	false
+524c1afe34a2d7da44b1fbfefff04d03e1c4aaec	We reported a patient with early-onset @DISEASE$ and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with @PHENOTYPICFEATURE$.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+624173aa6f335d660267b9dd116c69079c9dc3ec	@DISEASE$ is a rare but probably under estimated @PHENOTYPICFEATURE$.	false
+dfa2216d266a47ea844bd268141e70dd7a65c914	The @PHENOTYPICFEATURE$ had a histopathologic and ultrastructural appearance similar to previous descriptions of @DISEASE$.	false
+f98121dc1a49ef6ab3b2ef240a62f9b28ecc6a91	Pediatric @DISEASE$ is a rare @PHENOTYPICFEATURE$ in neonates and children.	false
+7128797b72ed1aa8731439327f14b7e03a818d4f	A large mediastinal @PHENOTYPICFEATURE$ invading into the liver with foetal hydrops: A rare case of @DISEASE$.	false
+9731ae0dc35a3fee8249edc520b3b30c5153eb1b	Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+072296559cf0ef70d31ca868b11f5ad8ea918e2b	The supratentorial extracranial @PHENOTYPICFEATURE$ include the choroid plexus, colloid cysts, meningeoma, @DISEASE$ and lipoma.	false
+e3fa67239397d10c392ce6acde63a3aa7c936c55	Myofibroma/@DISEASE$ is an uncommon benign myofibroblastic @PHENOTYPICFEATURE$ of infancy and childhood.	false
+b87e4dc06278152860815b0129a1971fb46546b0	The histopathologic diagnosis of the paravertebral @PHENOTYPICFEATURE$ and bone lesions was @DISEASE$.	false
+a0a1484b54b74eaf7cd11925a3b6930bc4dd48f0	A novel de novo PDGFRB variant in a child with severe cerebral malformations, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+901acdbb086ac4d841297223e3f69a7bfb87d415	Use of lepirudin in patients with @DISEASE$ and @PHENOTYPICFEATURE$ requiring hemodialysis.	false
+43df3e2267743e9a4b8ce6affec10bf8d080e9d0	@DISEASE$ in @PHENOTYPICFEATURE$.	false
+277ac713584ed27b1ed0ddef4b5b0592bf27462c	To report two cases of successful lepirudin use in two patients with @DISEASE$ (HIT) and @PHENOTYPICFEATURE$.	false
+b95ca8382a4f640cca2b67250f6febfaa847deb3	Fondaparinux in an obese child with @DISEASE$ and a history of @PHENOTYPICFEATURE$.	false
+121163edf97a32c99a97abb91c457142494fed33	A 50-year old male patient with familial hypercholesterolemia and @PHENOTYPICFEATURE$ (a), who underwent low density lipoprotein-apheresis treatment developed @DISEASE$ type II (HIT II).	false
+87899f79d023788485037e48ec0144797bd76aac	CASE 1--2015: left ventricular assist device insertion in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d346b8e1db7d1d6170d23fc703471b5a042b5b22	@DISEASE$ type II: perioperative management using danaparoid in a coronary artery bypass patient with @PHENOTYPICFEATURE$.	false
+797e3f5ae642d20e639e0ea44c982130747c3961	Use of recombinant hirudin in @DISEASE$ and thrombosis (HITT) and @PHENOTYPICFEATURE$--a case report.	false
+8fe4e432ea25819b1951e1119d223d381fc3e9d7	Two patients with @PHENOTYPICFEATURE$ requiring hemodialysis developed @DISEASE$ syndrome during intravenous heparin therapy.	false
+52bb3161f26a8487a9fe962cf3f5042b436dc760	@DISEASE$ patients are at significantly greater risk of thrombosis, @PHENOTYPICFEATURE$, and mortality in the postoperative setting.	false
+df0bd9fea03ad435915ed7719cd51a4274ce8e1f	It occurs in a variety of epileptic conditions (Primary generalized epilepsy, hypsarrhythmia, Lennox-Gastaut syndrome, also known as "petit mal variant"), in inborn errors of metabolism (@DISEASE$, forms of ceroid lipofuscinosis), in neurobiochemically still poorly understood forms of degenerative processes such as Essential hereditary myoclonus epilepsy (Lafora-Unverricht-Lundborg), in benign heredo-degenerative disorders (Hartung's syndrome), in CNS infections (SSPE, Jakob-Creutzfeldt disease), in metabolic encephalopathies (renal failure, @PHENOTYPICFEATURE$), in CNS poisoning, in acute cerebral anoxia and in post-anoxic states.	false
+6316c3e931aca43e3295c57df4155c035f08bfa3	Cerebral development may be impaired in fetuses with congenital @PHENOTYPICFEATURE$, particularly @DISEASE$ (HLHS) and aortopulmonary transposition (APT).	false
+f87eccd6165aca63cb260d5c076b3a37721f6599	Cerebral development may be impaired in fetuses with congenital @PHENOTYPICFEATURE$, particularly hypoplastic left heart syndrome (@DISEASE$) and aortopulmonary transposition (APT).	false
+f895ca8a19a86b95fd4cd77636c3879b665fe92f	@DISEASE$ is a severe form of @PHENOTYPICFEATURE$ (CVM), and it remains a leading cause of infant mortality and childhood morbidity.	false
+6e0b01ff12f8a99e67714fa2632bffaa8cfe4f65	Multiple cardiac clots in an individual with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4754580d7a7ab6cbacaea764e0643ed4df3f4e58	This is the first case report of @DISEASE$, pulmonary hypertension, right @PHENOTYPICFEATURE$ and bilateral pleural effusion.	false
+7ba57e2f29ea36037227110897c47a0ce2af55dd	A 64-year-old man with @DISEASE$ was admitted to our hospital because of @PHENOTYPICFEATURE$.	false
+13c11f5202d5d2537783d160be00b0bc157c67fb	Several presentations focused on the role of calreticulin and other ER chaperones in a variety of disease states, including haemophilia, @PHENOTYPICFEATURE$, diabetes, Sjogren's syndrome, Chagas diseases, multiple sclerosis, amyotrophic lateral sclerosis, neurological malignancies (especially glioblastoma), haematological malignancies (especially @DISEASE$ and myelofibrosis), lung adenocarcinoma, renal pathology with emphasis in fibrosis and drug toxicity.	false
+1d6edd535e1ea7cda0f49e4e16ee1379d3f7b303	@PHENOTYPICFEATURE$ is a common @DISEASE$ disorder with significant adverse health consequences.	false
+9597c7399ab8e6d377ee309a6ddb093be1e2a9c9	Dominant inheritance of @DISEASE$, myopia and @PHENOTYPICFEATURE$.	false
+b5077c575f70f9ffb6ce1236259e9c4744c8265a	@DISEASE$ with more acidic pH also presented reduced A. tumefaciens @PHENOTYPICFEATURE$ during co-culture, and improved regeneration frequency of the inoculated explants.	false
+66564d508d5d888d243661d25ccd9bbfa52ba239	Seven of the CO2 laser patients developed slight @PHENOTYPICFEATURE$, seven developed @DISEASE$ grade dysphonia and six developed severe dysphonia.	false
+5e6c5d9a82cb9002ef6ac19bf04a4e455591055a	Syndrome of @DISEASE$ (ribbing type) with rhizomelic shortness, cleft palate, and @PHENOTYPICFEATURE$ in two unrelated patients.	false
+96849003f7540a9824b5283f259f14a0ca2e2b75	@PHENOTYPICFEATURE$ may occur in a number of neurological diseases and may complicate various @DISEASE$ disorders.	false
+6ebfcbd089af347b9730bde8bf7a2280c9be42d2	The abortus displayed dysmorphic features of a high forehead, hypertelorism, a prominent nose with a bulbous tip, @DISEASE$ cleft lip and palate, @PHENOTYPICFEATURE$, low-set ears, a short neck, a joint contracture at the wrist, prominent heels and pseudo-hermaphroditism.	false
+e06ba3119b688d22800ce24f330175f28cbf0c50	The abortus displayed dysmorphic features of a high forehead, @PHENOTYPICFEATURE$, a prominent nose with a bulbous tip, @DISEASE$ cleft lip and palate, micrognathia, low-set ears, a short neck, a joint contracture at the wrist, prominent heels and pseudo-hermaphroditism.	false
+bacd3c2d352e574cfcd7d6dcb70fd4fb0adc3ba1	The cardinal features of the syndrome include early-onset insulin-dependent diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4370f810c859702ec4b19f9aff0041a85059f983	[@DISEASE$ with congenital vertebral blocks, carpal and tarsal synostoses and @PHENOTYPICFEATURE$].	false
+c3e8dbbeddd21c2f4f8094b29d44a6d961c96af2	Numerous @DISEASE$ disorders, including @PHENOTYPICFEATURE$, may cause nocturnal diaphoresis.	false
+76665c45ab82965ebdb9491e86c99997018cfc08	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and dental abnormalities.	false
+2d2b96ab6209fc2ad3f2bcfb4ec8c155c395b3fc	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and @PHENOTYPICFEATURE$.	false
+8d118b8d8d715509083f31b1643eb48a100c3279	Hirschsprung's disease associated with @DISEASE$, broad big toes, and ulnar @PHENOTYPICFEATURE$ in sibs: a case for fetoscopy.	false
+e8e66a02e1c9bd636566975f54a380d28c75954f	Chondroectodermal Dysplasia is a disease complex consisting of bilateral manual @PHENOTYPICFEATURE$, chondrodysplasia of long bones resulting in acromelic dwarfism, hydroitic ectodermal dysplasia affecting principally the nails, teeth and hair and @DISEASE$.	false
+e7dcdac0dc5daa6c0b215bde87998656e161e0f2	Mice deficient for the @DISEASE$ (Fanca) or Fanconi anemia complementation group C (Fancc) gene seem to be diabetes-prone, as manifested by significant hyperglycemia and @PHENOTYPICFEATURE$, and rapid weight gain when fed with a high-fat diet.	false
+9d49dcfdd0e3f274df02709d53c50fffb4f19640	@PHENOTYPICFEATURE$ are commonly reported in autism spectrum disorder (@DISEASE$).	false
+73741bc7fc3462a8474d49826532cb70890456de	We propose that @PHENOTYPICFEATURE$ may disrupt optimization of both structure and function in specific cerebro-cerebellar circuits in @DISEASE$.	false
+407ff27695e18b731b40a8058dd953f396d3a4e3	In this study, we describe our new simple decision making algorithm and selection of fusion level for @DISEASE$ surgery in terms of adult idiopathic idiopathic scoliosis vs. degenerative @PHENOTYPICFEATURE$.	false
+67643d6078e3865989c1c377d037debf98c08d06	In addition to the characteristic cleft palate, @DISEASE$, and persistent superior vena cava, he had low-set and posteriorly angulated ears, upslanting palpebral fissures, cryptorchidism, and structural brain abnormalities including partial agenesis of the corpus callosum, dysplastic enlarged caudate, and @PHENOTYPICFEATURE$ with megacisterna magna.	false
+d96e92c6e61cd9b54e03db84a0b42e02c7aa792d	In addition to the characteristic @PHENOTYPICFEATURE$, @DISEASE$, and persistent superior vena cava, he had low-set and posteriorly angulated ears, upslanting palpebral fissures, cryptorchidism, and structural brain abnormalities including partial agenesis of the corpus callosum, dysplastic enlarged caudate, and cerebellar hypoplasia with megacisterna magna.	false
+26ce94b7946ac41b6f6325a672e01957970b63ee	Cerebellar neuropathology including @PHENOTYPICFEATURE$ and reduced cerebellar Purkinje cell numbers are the most consistent neuropathologies linked to @DISEASE$.	false
+279baf62b8238c9091cf69d0db3ac247ba30bdde	A transthoracic echo showed a large atrial septal defect (@DISEASE$) with right heart @PHENOTYPICFEATURE$ and possible anomalous pulmonary venous drainage.	false
+1d9a2466e894c4e944ab6e58d3fddb25c8c8b224	To report an unusual case of @DISEASE$ with severe distal interphalangeal destructive @PHENOTYPICFEATURE$ and finger skin vesiculopustules.	false
+d4d3435f13687eb5b505ba4501a5e17af1d2cba9	Moreover, @PHENOTYPICFEATURE$ have been associated with @DISEASE$.	false
+edc39e6a7bfc4b30cb0e098f9f6c8147da7c9ae0	@PHENOTYPICFEATURE$, particularly in Right Crus I (RCrusI), are consistently reported in autism spectrum disorders (@DISEASE$).	false
+c56b02d93993e1e86a41a30dd9e472e04e702dea	@DISEASE$ is marked by social deficits and is strongly associated with @PHENOTYPICFEATURE$.	false
+3a25dd0028b2b87dcc0afc25c08f9bc1b070b2e2	This abnormality, also found in @DISEASE$, Crohn's disease, and @PHENOTYPICFEATURE$ Leprosum, seems to be associated with dysregulation of cytokine release.	false
+75f92bde402c066fe2a82ace1d69ca8e2b3c87bc	We describe a patient with @DISEASE$ treated with gold salts, who developed bilateral @PHENOTYPICFEATURE$ and showed a dramatic response on corticosteroid therapy.	false
+9005669e77dfbbdf124c9cfd118075612076437b	Adult @DISEASE$ (RA) is an @PHENOTYPICFEATURE$ affecting joints and frequently characterised by initial local and later systemic inflammation.	false
+77d5c91b147638aa68707bfcac59f35eebd0e77c	[Normotensive @PHENOTYPICFEATURE$ and @DISEASE$].	false
+e65ccfad445bd504c311a189b6a80305ced97f59	@PHENOTYPICFEATURE$ associated with @DISEASE$: aortic insufficiency requiring valve replacement.	false
+7dfba562226d4d2809085441053980defc3ede1c	Salicylates used for @DISEASE$, or in inadvertently high dosages by patients themselves, often cause toxicity manifested by @PHENOTYPICFEATURE$, hearing impairment, and imbalance.	false
+27e1c701b9d1436581b791b6019948a0d8f9b92e	Salicylates used for @DISEASE$, or in inadvertently high dosages by patients themselves, often cause toxicity manifested by tinnitus, @PHENOTYPICFEATURE$, and imbalance.	false
+a5d66517bc908ab164644787e6164763cb9564dc	Anesthetic management for advanced @DISEASE$ patients with acquired @PHENOTYPICFEATURE$ undergoing temporomandibular joint replacement.	false
+7aa7a4602649b9651651275501a37d61671b30f3	Coding variants in TLR4 have been associated with @PHENOTYPICFEATURE$ like ulcerative colitis, Crohn's disease, and @DISEASE$.	false
+10e3a45b4dace3e8caf4cb0b7b4732870493e423	@DISEASE$ (RA) is an @PHENOTYPICFEATURE$ affecting joints and frequently characterized by initial local and later systemic inflammation.	false
+97cba2ab793f05e22d590809d81f9e084ea4a0c7	@DISEASE$ (RA), like many other @PHENOTYPICFEATURE$ syndromes, is a disease of adults, with the highest incidence rates reported in the elderly.	false
+b8214bb13445c6e9f0b81345b6dc5476532907ba	Grebe dysplasia, Hunter-Thompson dysplasia, and du @DISEASE$ dysplasia constitute a spectrum of skeletal dysplasias inherited as an autosomal recessive trait characterized by @PHENOTYPICFEATURE$ acromesomelic shortening of the limbs, and normal axial skeleton.	false
+f84cd9c4053599f25a54656781417b735fe3ce42	Moreover, quantitative neuroimaging measurements demonstrate progressive @PHENOTYPICFEATURE$ in @DISEASE$ at rates that may surpass Alzheimer's disease.	false
+3cc09c48a753fdca9b5805f1c8c14299064071f8	The main unifying feature of cases with frontotemporal dementia (@DISEASE$) is the pattern of @PHENOTYPICFEATURE$.	false
+6a84870559490140ed24af5b009c8eb4353a7bce	Emotion processing deficits were present in both @DISEASE$ syndromes but were associated with divergent patterns of @PHENOTYPICFEATURE$.	false
+c100c3fb5554f44f7886b669e552403d51526f91	The two principal language variants of @DISEASE$ are Progressive Nonfluent Aphasia (PNFA) with predominant agrammatic/non-fluent impairments and Semantic Dementia (SD) with semantic impairments and @PHENOTYPICFEATURE$.	false
+44902c61f5ea03213690bdc895f2583054f178aa	The aim of this study was to characterize the patterns of @PHENOTYPICFEATURE$ in @DISEASE$ compared to Alzheimer's disease (AD).	false
+70914667784c8065aa934e1d668f479fbb57234f	@DISEASE$ is a neurodegenerative disease characterized by @PHENOTYPICFEATURE$ of the frontal and anterior temporal lobes.	false
+fe722424bc61304dde1c7a250e36bda554e6ab01	Both AD and @DISEASE$ patients had increased rates of @PHENOTYPICFEATURE$.	false
+7597799614e43760868a044eaeff4a0216413fd1	The type and degree of breakdown appears to differ as a function of @DISEASE$ subtype and associated @PHENOTYPICFEATURE$.	false
+c5edab168a08b78994c0a757b03f74f844556d11	Progressive @PHENOTYPICFEATURE$ was observed in all groups, with fastest rates of whole brain atrophy in GRN, followed by sporadic @DISEASE$, C9ORF72 and MAPT.	false
+4289a42ddf5b77162311404d55445f17626d35f2	Progressive brain atrophy was observed in all groups, with fastest rates of whole @PHENOTYPICFEATURE$ in GRN, followed by sporadic @DISEASE$, C9ORF72 and MAPT.	false
+b3bd64ef3e6d20399fe35b8310bb2976ca535dbb	Participants met Neary criteria for behavioural variant @DISEASE$ (bvFTD) or semantic dementia and had characteristic @PHENOTYPICFEATURE$.	false
+e3c1031fdcc72f30c3a70ff95ac1949cda1d5e26	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by tumors other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, @PHENOTYPICFEATURE$, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with @DISEASE$ and placental site trophoblastic tumor.	false
+a572cbb1f81d4aa320871aa85383e6846544a03d	Serious adverse events, including intracranial hemorrhage, @PHENOTYPICFEATURE$, @DISEASE$, infection, weight gain, and hypertension, may deter the use of ACTH.	false
+619fa1a2622d3772f5ddbd6e3184ac422a32c064	A 38-year-old woman complained of headache, @PHENOTYPICFEATURE$, and diabetes insipidus for 18 months prior to rapid onset of @DISEASE$ and amenorrhea.	false
+26ba1e844a18eadce1cff2a671046efcd48e806f	At the time of the discovery of recurrence or metastases, 5 patients presented with lung metastases found on chest x-rays, 3 had recurrent @DISEASE$ or hypertension, 3 had abdominal pain, 1 had @PHENOTYPICFEATURE$, and 1 was asymptomatic.	false
+956f8dd4589db87c5d0262ab4ef3f29124f34ccf	Ectopic @DISEASE$ and Cushing's due to @PHENOTYPICFEATURE$ confer the highest mortality risk among Cushing's etiologies.	false
+ee699686d9dd2777755bc16c746aa5e7b45a401c	Adults with @DISEASE$ frequently develop @PHENOTYPICFEATURE$, memory impairment, and depression, with partial to complete resolution after cure.	false
+ad168e292521390abc6b801830ff63b7bd62a3a8	We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with @PHENOTYPICFEATURE$ and myelination delay that might be due to iatrogenic @DISEASE$ caused by topical corticosteroid use.	false
+16eabbe5574465eeca9e5c44424029707a89bda0	Reversible @PHENOTYPICFEATURE$ and cognitive impairment in an adolescent Japanese patient with primary adrenal @DISEASE$.	false
+c930ce2ca47f2148b4f060e15494413e05efbd41	Adverse events were mostly osteopenia/osteoporosis (41.9%), hyperlipoproteinemia (41.9%), @PHENOTYPICFEATURE$ (32.3%) and @DISEASE$ (32.3%).	false
+5b824890b4dfb1441b52e59464f46b48c8fbc99b	He was examined for developmental delay and polyuria at age 1 year 8 months and was found to have hypokalemia, metabolic alkalosis, hyperreninemic @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a245c69375bbc5c58722618808c2b811f55a407f	We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral @PHENOTYPICFEATURE$, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and @DISEASE$.	false
+22739f6525bd95763e282adc675aecfb38dc9e0e	We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, @PHENOTYPICFEATURE$, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and @DISEASE$.	false
+c414af17b938ebcd7ea265b107dfa66cf222a8b3	@DISEASE$ is a rare autosomal dominant multi-organ disorder characterized by @PHENOTYPICFEATURE$, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism, deafness, cardiovascular disease, and abnormal sexual development.	false
+eddcde149b5c6543ce6ed01e249193f0e1480bd3	Our results are the first to define a direct role for PAD-catalyzed histone citrullination in miRNA expression, which may underlie the etiology of prolactinoma and @DISEASE$ @PHENOTYPICFEATURE$ through regulation of oncogene expression.	false
+ffe5a99b2e7cd11b96c358280d154730f339ef03	More recently, genome-wide association studies have gained increasing popularity, as they enable scientists to robustly associate specific variants with the predisposition for complex disease, such as @DISEASE$ diabetes, inflammatory bowel disease, obesity, @PHENOTYPICFEATURE$ and leukemia.	false
+6f5e6e892eeb22f65b2f2dfd08e79a9fcfb73ead	Here, we present a description of @DISEASE$ from the second session of the Anatomical Society (Paris, France) on 11 December 1803 of congenital mammary absence and @PHENOTYPICFEATURE$ on the right side.	false
+cbc876297554d31a6d463ddd683c3070fa314afe	@DISEASE$ is a rare congenital malformation associated with various degrees of thoracic and homolateral upper @PHENOTYPICFEATURE$.	false
+c119ab6d2a91080acd6b770104dbe0e451e1796a	Confirming CD34 expression in the tumor cells, this @PHENOTYPICFEATURE$ was diagnosed as metastatic @DISEASE$.	false
+816dabd97434499257a1abbf7ea6bb348ecf8997	It is synonymous with 'infantile cortical hyperostosis' and 'Caffey's-@DISEASE$'.It is characterized by @PHENOTYPICFEATURE$, irritability, bone pain and characteristic bony changes.	false
+060d87f2f094eedbb28396920bca39b1f45ee164	The @DISEASE$: congenital asymmetry, @PHENOTYPICFEATURE$ and variations in sexual development.	false
+4cca0c40afd47a2fee39349de88ea57c0d5f74a7	We found that de novo @PHENOTYPICFEATURE$ and/or incomplete penetrance in BSCL2 has been taken into account for @DISEASE$/SPG17 and confirm the large phenotypical heterogeneity of BSCL2 mutations.	false
+43a759f9b9c2d2fffd352fd623fdcf712388fecb	An association between genetic polymorphisms in encoding X-ray repair cross complementing group 1 (XRCC1) and encoding xeroderma pigmentosum group D (@DISEASE$) and risks of @PHENOTYPICFEATURE$ (NSCLC) in East Chinese Han population has been observed.	false
+931103a1ce2f2ee69f1c1d3f9c704dafd1b2783b	Eosinophilic fasciiitis is an idiopathic and uncommon condition, a @DISEASE$-like disorder that predominantly affects the extremities and is characterized by marked thickening and inflammation of the fascia, associated with with peripheral blood eosinophilia, @PHENOTYPICFEATURE$, and characteristic histologic findings.	false
+dc3c961921e0d326550fce012209c0ad760794c7	@DISEASE$-like skin involvement is associated with eosinophilia and @PHENOTYPICFEATURE$.	false
+12fc39d9b9a593504bb49f15ff8faddbe32079b8	Eosinophilic fasciitis (EF) is a rare disease characterized by @DISEASE$-like skin, inflammation of deep muscle fascia, @PHENOTYPICFEATURE$, peripheral eosinophilia, and elevated erythrocyte sedimentation rate.	false
+5f654695fc5619d85cf0aa7ab57f281de9a34cd4	@DISEASE$ renal crisis (SRC) occurs in 5-10% of SSc patients, who may present with an abrupt onset of hypertension, acute renal failure, headaches, fevers, malaise, hypertensive retinopathy, encephalopathy and @PHENOTYPICFEATURE$.	false
+fb6c6fce1346a6f679238ab51ba14cc8a258cb91	The animals treated with @DISEASE$ presented higher oxygenation and perfusion indices (p < 0.0001); lower arterial lactate, tumor necrosis factor-alpha, and interleukin-6 levels (p < 0.0001); less pulmonary perivascular @PHENOTYPICFEATURE$ and polymorphonuclear neutrophil sequestration (p < 0.0001); and lower mortality (p < 0.01) than those that received IS.	false
+65acf4a09079558c60dc0a61ab51aba873854c55	The purpose of this study was to compare the effect of hypertonic saline (@DISEASE$) and isotonic saline (IS) solutions on oxygenation, perfusion, tumor necrosis factor-alpha and interleukin-6 levels, accumulation of polymorphonuclear neutrophils, and pulmonary perivascular @PHENOTYPICFEATURE$ in the treatment of controlled HeS in rats.	false
+877942d938ec9a0d8c0e5390e9eda34505692a79	The specific effects of @DISEASE$ lead to an improvement in tissue oxygenation by increasing the cardiac preload, decreasing the afterload and endothelial and interstitial @PHENOTYPICFEATURE$ within the microcirculation.	false
+0f038d0d6249e655103593ddfaad1ebc8685e695	This review covers current knowledge of the role of the CaSR in disorders of calcium homeostasis (FHH, neonatal severe hyperparathyroidism, @DISEASE$, primary and secondary hyperparathyroidism, hypercalcemia of malignancy) as well as unrelated diseases such as breast and colorectal cancer (where the receptor appears to play a @PHENOTYPICFEATURE$ suppressor role), Alzheimer's disease, pancreatitis, diabetes mellitus, hypertension and bone and gastrointestinal disorders.	false
+7404f8f549d4a9fe6da38c9db0f880c7a4bfa6d0	Impaired growth and @PHENOTYPICFEATURE$ in @DISEASE$ caused by a GNA11 mutation.	false
+11f4cfd7c58fef527a5ebcbfc7291dc6c650af36	We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of @PHENOTYPICFEATURE$ and gradually developed @DISEASE$ and patchy retinal atrophy leading to a diagnosis of Knobloch syndrome (KS, OMIM 267750, COL18A1).	false
+ec4a45f38b1d5e8047068f6d82c97c6aa5370298	A case of bilateral @DISEASE$ associated with @PHENOTYPICFEATURE$ and syndactyly.	false
+d4ff9267e33ae6107b045903cd1924f96e186db4	Primary carnitine deficiency (@DISEASE$) affects fatty acid oxidation and is associated with cardiomyopathy and @PHENOTYPICFEATURE$, but the risk of sudden death in PCD is unknown.	false
+e42f41be5082111c5441144b091153f6bc21f55a	Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and @PHENOTYPICFEATURE$, but the risk of sudden death in @DISEASE$ is unknown.	false
+d85813a761ab7d39c76f6b18dc7e6097ec95b076	Exposure to antibiotics containing pivalic acid was associated with encephalopathy and progression to lethal @PHENOTYPICFEATURE$ in patients suffering from @DISEASE$.	false
+de53908bfaaf48827ba9ecf3caaf4568612cb4dd	In the present study the prevalence of @DISEASE$ and the clinical presentation at TE onset, including neonatal @PHENOTYPICFEATURE$ fulminans, in a cohort of children are reported.	false
+aba2ea76759c0d3395b5a30a16d880a1fabf0406	POEMS syndrome is characterized by peripheral neuropathy (PN), a clonal plasma cell disorder (@DISEASE$), organomegaly, endocrinopathy, skin changes, @PHENOTYPICFEATURE$, sclerotic bone lesions, and thrombocytosis.	false
+bce8651fdc3629c058a815832b0d4b1e00be1a34	Although rare, @DISEASE$ should be ruled out as a cause of @PHENOTYPICFEATURE$ since oral carnitine supplementation is readily available and efficient.	false
+dab3927256fc7183ccd6e19b50e63bc9801a439f	Moreover, severely affected @DISEASE$ mice, with marked ataxia, @PHENOTYPICFEATURE$ and shortened life-span showed a significant improvement after continuous IGF-I microsphere therapy as determined by enhanced motor coordination, marked weight gain and extended survival.	false
+4b8e8aaca388a485368e8c1481d304cafd76d6a2	Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with @DISEASE$ may be a clinically recognizable syndrome with major phenotypes being mental retardation, @PHENOTYPICFEATURE$, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.	false
+9c5588b7f9e5cbcde5c1e76021236295fa3ea04e	The present findings also suggest that the normal progress of @DISEASE$ in the hand and foot plates of rodent fetuses may prevent the formation of some limb malformations such as webbing fusion of digits, polydactyly, or @PHENOTYPICFEATURE$/foot.	false
+bcf216272ad8d0ffff204768d6aa7e2f0867c298	For these reasons PCD pathways are promising targets for interventions in aging and aging-related diseases: reactivation of PCD may be beneficial in clearing cancerous and senescent cells, whereas inhibiting @DISEASE$ may help prevent @PHENOTYPICFEATURE$ and nervous system degeneration.	false
+433fbac551eacf36ab2ed4ff75b0c58c17b10753	For these reasons @DISEASE$ pathways are promising targets for interventions in aging and aging-related diseases: reactivation of PCD may be beneficial in clearing cancerous and senescent cells, whereas inhibiting PCD may help prevent @PHENOTYPICFEATURE$ and nervous system degeneration.	false
+e4353fdeaa1aba4cd8a1741f10b98bf01299997a	For these reasons PCD pathways are promising targets for interventions in aging and aging-related diseases: reactivation of @DISEASE$ may be beneficial in clearing cancerous and senescent cells, whereas inhibiting PCD may help prevent @PHENOTYPICFEATURE$ and nervous system degeneration.	false
+7f628ce4ce58e451758911d9e46d34f57b002582	Syndrome of @PHENOTYPICFEATURE$, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (@DISEASE$): report of a new case and review of the literature.	false
+77d73c363b4bbf53d2f7f27ddab1f3ce2f9cca07	Here we show that long-term inhibition of mTOR by rapamycin prevented AD-like @PHENOTYPICFEATURE$ and lowered levels of Abeta(42), a major toxic species in @DISEASE$], in the PDAPP transgenic mouse model.	false
+6061013d74e3d77e58a815f48e93a923b076d5bb	Pemetrexed, approved for the treatment of non-small cell lung cancer and @DISEASE$, has adverse effects including neutropenia, leucopenia, thrombocytopenia, @PHENOTYPICFEATURE$, fatigue and nausea.	false
+e7fe4c40f89614ce223de4cf48b34a36fd899af3	Anterior cingulotomy improves @DISEASE$ @PHENOTYPICFEATURE$ and dyspnoea.	false
+9767987e893cf3ed6c89f6ddd5aff6046f3fe999	@DISEASE$ (PVR) results in retinal detachment and @PHENOTYPICFEATURE$ due to fibroblastic proliferation in the vitreous and subsequent cellular contraction.	false
+640f44330e2448295a14c501b7b69179ab4d9fe4	Hyaloid-retinal relationship varies with types of retinal breaks, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+08a83f7ac5f7a98263ecf793fafabbedf4ec1f10	Nevertheless, potentially meaningful changes have already been observed in corneal dystrophies (Meesmann's dystrophy, posterior polymorphous dystrophy and iridocorneal endothelial syndrome), degenerations (pterygium) and inflammatory diseases (Pseudomonas keratitis), in opacification of the lens (anterior subcapsular and secondary @PHENOTYPICFEATURE$), in diseases characterized by proliferation of the retinal pigment epithelium (macular degeneration and @DISEASE$), and in intraocular tumours (uveal melanoma).	false
+3b2a604ba204425238753fd0b690392f7ba8d5c2	@DISEASE$ (PVR) is the most common cause of @PHENOTYPICFEATURE$ outcomes in association with retinal detachment surgeries and ocular trauma.	false
+afed7ce1f32e79cb962183f334db11cca6cb33f6	Outcome measures included primary and final anatomic success, final visual success, and development of post-operative @DISEASE$ (PVR) and/or post-operative @PHENOTYPICFEATURE$.	false
+21763307630ed4afa72fc2419c8214b83de9576f	This study suggests that Z-BUF provides higher arterial PO2's and lung compliances while reducing @PHENOTYPICFEATURE$ and lung injury in a porcine model of @DISEASE$.	false
+135b2792e405b556a7bcaa14b2c4895207b0f7a0	Renal transplantation was performed in five patients with various forms of amyloidosis (familial amyloidosis, Mediterranean @PHENOTYPICFEATURE$ and @DISEASE$).	false
+c7fdd388bfe4a5f849fe6ec48fa6145b41723594	IBD include ulcerative colitis and @DISEASE$, with such common symptoms as severe diarrhea, @PHENOTYPICFEATURE$, and blood in the stool.	false
+f233abe09a7795548a86c7fc07091f90ab2220cc	Furthermore, Cogan's syndrome, a chronic disease characterized by deafness, @PHENOTYPICFEATURE$ keratitis and aortitis, has been associated with IBD and mainly with @DISEASE$.	false
+504a41a79889548c037e3af77b02967261640719	The authors report a case of a 29-yr old patient with @DISEASE$, who presented with dyspnoea, @PHENOTYPICFEATURE$, and a productive cough.	false
+cfd907f9b8f93db1ed718a8bbfe0c39263597f2f	We report the case of a 22-year-old woman with @DISEASE$, who was admitted for abdominal pain, @PHENOTYPICFEATURE$ and diarrhoea.	false
+21113c49cece0715630031b55db33153ec526188	Prolonged remission of severe @DISEASE$ after @PHENOTYPICFEATURE$ and leukopenia caused by 6-mercaptopurine.	false
+9f2df4305e63a4a539c9a6be5dd2f097d2b4b635	@DISEASE$ (CD) is a chronic inflammatory illness characterized by episodic abdominal pain, diarrhoea, @PHENOTYPICFEATURE$, bleeding and obstruction.	false
+930c7f8e2617bb6cd7a3391fe3be0386b3b44a46	An adolescent girl with @DISEASE$, @PHENOTYPICFEATURE$, and sore throat.	false
+e520c4fcc36f81baf41917f3811814db43c8afd8	[Parenteral nutrition in treatment of @PHENOTYPICFEATURE$ in adolescents with @DISEASE$].	false
+d20990852b1552667088f502c3945b241c169e29	A 53-year-old man with @DISEASE$, diarrhea, @PHENOTYPICFEATURE$, and bacteremia.	false
+031df1d3c76e5b16c8db4ae3ece1d53483982b0b	@DISEASE$ enhances cell proliferation and induces @PHENOTYPICFEATURE$ formation in a xenograft assay.	false
+0b80cdc80189d11c5b404493b8eb2b39b67e87c4	Prior reports of @DISEASE$ mention telecanthus, @PHENOTYPICFEATURE$, strabismus, iris anomalies, cataract, microcornea, optic nerve hypoplasia, myopia, retinal detachment, and lattice retinal degeneration.	false
+22faf424fec98ea4aeb354f2cbef5b1266bb2b04	Prior reports of @DISEASE$ mention telecanthus, ptosis, strabismus, iris anomalies, @PHENOTYPICFEATURE$, microcornea, optic nerve hypoplasia, myopia, retinal detachment, and lattice retinal degeneration.	false
+36d9741f95c7bcc86cfeee789a91a13ac3b57d04	@DISEASE$ (SMS) is a complex disorder characterized by numerous challenges, including intellectual disability, speech delay, decreased @PHENOTYPICFEATURE$ sensitivity, sleep disturbances, hyperactivity, mood instability, and self-injury.	false
+e936be6fed298a3d076dadfbbf3509a109ef320b	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+df5deea8b3fc6e27de6c7d145d4660d681e46fed	Patients with recurrent infections, @PHENOTYPICFEATURE$ desquamative skin lesions, malar rash and oral mucosal involvement should be screened for complement @DISEASE$.	false
+0a1c76492db081b6ca2283ea6452fca8ef0fd614	@DISEASE$ (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, @PHENOTYPICFEATURE$, and mixed motor abnormalities including spasticity, ataxia, and dystonia.	false
+0edbfd4cdf46bc3de0f6ff5f932b9bd36bd6f21a	Given the essential roles of iron-sulfur (Fe-S) cofactors in mediating electron transfer in the mitochondrial respiratory chain and supporting heme biosynthesis, mitochondrial dysfunction is a common feature in a growing list of human Fe-S cluster biogenesis disorders, including Friedreich @PHENOTYPICFEATURE$ and @DISEASE$.	false
+134a24664462c89398e357761dbd2c864c40dc41	Proper anaesthetic management of patients with mediastinal @DISEASE$ begins with an assessment of the preoperative status, directed foremost at establishing the localization of the @PHENOTYPICFEATURE$ and on the basis of the clinical and radiological findings, discerning whether any vital mediastinal structures are affected.	false
+57219a18dcdf1bad16b25fe6a097b046ab805101	In these cases general anaesthesia is the second option but can lead to respiratory and haemodynamic decompensation due to @PHENOTYPICFEATURE$-associated compression syndrome (mediastinal @DISEASE$).	false
+7d7e075d4fcb8061cef3243db459edd241f3cc37	Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, @PHENOTYPICFEATURE$, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, @DISEASE$).	false
+0132612ff01ebeeecb61e0f6611e3413e0f02099	Novel single base-pair deletion in exon 1 of XK gene leading to @DISEASE$ with chorea, muscle wasting, @PHENOTYPICFEATURE$, acanthocytosis and haemolysis.	false
+f0326d24da7edea18fda16320b2781c7f8677951	Some of its features, including choreic movements, @PHENOTYPICFEATURE$ with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, @DISEASE$.	false
+09c076d4b16d0386cbfa5765d7b23644700863bd	The authors describe a primary @DISEASE$ of the orbit in a neonate who had massive unilateral @PHENOTYPICFEATURE$ at birth.	false
+e950a4e1887e6fe888dce1f26b9199286664f27c	In conclusion, we recommend considering upd(14)mat in patients with low birth weight, @PHENOTYPICFEATURE$, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a @DISEASE$ phenotype presenting with low birth weight, feeding difficulties and obesity.	false
+fdef98642807517130a2d75d44d8e42fc72c6803	Brothers with @DISEASE$: sensorineural deafness, @PHENOTYPICFEATURE$, and other structural brain abnormalities.	false
+6837cb9b6bc459156e9462c9f48b5ab73efe03be	@DISEASE$ (CMS) is a rare autosomal recessive disorder characterized by sensorineural deafness, @PHENOTYPICFEATURE$, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement.	false
+11b29d7b9efabecf024e62062429fd1610379c5e	We review the findings in the two patients we describe, four children reported in the literature and two patients reported by Hendriks et al. [1999: Am J Med Genet 86:183-186] with sensorineural deafness, @PHENOTYPICFEATURE$, and interhemispheric cysts, who may well have @DISEASE$.	false
+a0c6515ec4dee82cf7a869c2a2a5b20372a0a9cd	We report on 3 unrelated children (one @PHENOTYPICFEATURE$) with @DISEASE$ who are not of Puerto Rican descent.	false
+2269f6219534d340a6cdfdfbf31fd3942d14d023	Of the total sample of subjects ?4 years, common FGIDs included irritable bowel syndrome (36%), abdominal migraine (19%), functional constipation (17%), cyclic @PHENOTYPICFEATURE$ syndrome (8%), functional abdominal @DISEASE$ (7%), aerophagia (7%), and functional dyspepsia (7%).	false
+1f04a2977e8621eb1a069414f9b8376176e4fc28	Functional abdominal @DISEASE$ (FAPS) is a debilitating disorder with constant or nearly constant @PHENOTYPICFEATURE$, present for at least 6 months and loss of daily functioning.	false
+9d25331d7d3144e9310e2642d54cb7b754b3b55d	Primary outcome was responders based on overall treatment efficacy (OTE) recorded on a seven-point Likert scale for postprandial distress syndrome (PDS; postprandial fullness, early satiety and upper abdominal bloating), epigastric @DISEASE$ (EPS; upper abdominal pain and upper abdominal discomfort) and associated symptoms (nausea, @PHENOTYPICFEATURE$ and excessive belching) at the end of 2 and 4?weeks.	false
+c29d71c5e45d66ccddaf878ae570d8b75959a1de	This article presents an overview on the application of SPE in the treatment of BPH, @PHENOTYPICFEATURE$, and chronic prostatitis/chronic pelvic @DISEASE$, with a discussion on its action mechanisms.	false
+77064202f429e6d772b98422d604ffd33f4c7c38	11 (2.4%) and five (1.1%) had abdominal migraine, functional @PHENOTYPICFEATURE$, functional abdominal @DISEASE$ and functional dyspepsia, respectively.	false
+52b18f60ba15d272466599dc6e99e84b1afea592	The most common FGIDs included functional constipation (15.9%), irritable bowel syndrome (5.6%), and functional @PHENOTYPICFEATURE$ or functional abdominal @DISEASE$ (4.0%).	false
+ce1d7215c02b7d6f34a5d13d18f5490f2f8cb3ac	We evaluated the rectal pain threshold at baseline and after conditioning (repetitive rectal painful distention: RRD) in patients with IBS or functional abdominal @DISEASE$ (FAPS), which is an @PHENOTYPICFEATURE$ disorder, and in healthy controls, and determined whether rectal hypersensitivity is a reliable marker for IBS.	false
+5ab6cd380212225cb3d17c228c7fb79d6762d4dc	A slightly modified classification into the following 4 categories is proposed: (1) functional dyspepsia, characterized by 1 or more of the following: postprandial fullness, early satiation, epigastric pain, and epigastric burning, which are unexplained after a routine clinical evaluation; and includes 2 subcategories: postprandial distress syndrome that is characterized by meal-induced dyspeptic symptoms and epigastric @DISEASE$ that does not occur exclusively postprandially; the 2 subgroups can overlap; (2) belching disorders, defined as audible escapes of air from the esophagus or the stomach, are classified into 2 subcategories, depending on the origin of the refluxed gas as detected by intraluminal impedance measurement belching: gastric and supragastric belch; (3) @PHENOTYPICFEATURE$ disorders, which include 3 subcategories: chronic nausea and vomiting syndrome; cyclic vomiting syndrome; and cannabinoid hyperemesis syndrome; and (4) rumination syndrome.	false
+9465fd41c60649fd3e2b35340178092bf8cea36d	A slightly modified classification into the following 4 categories is proposed: (1) functional dyspepsia, characterized by 1 or more of the following: postprandial fullness, early satiation, epigastric pain, and epigastric burning, which are unexplained after a routine clinical evaluation; and includes 2 subcategories: postprandial distress syndrome that is characterized by meal-induced dyspeptic symptoms and epigastric @DISEASE$ that does not occur exclusively postprandially; the 2 subgroups can overlap; (2) belching disorders, defined as audible escapes of air from the esophagus or the stomach, are classified into 2 subcategories, depending on the origin of the refluxed gas as detected by intraluminal impedance measurement belching: gastric and supragastric belch; (3) nausea and vomiting disorders, which include 3 subcategories: chronic @PHENOTYPICFEATURE$ syndrome; cyclic vomiting syndrome; and cannabinoid hyperemesis syndrome; and (4) rumination syndrome.	false
+4ff7e68ca6c0afbb7927d78ef3065da4865b166f	The patient was initially diagnosed with a @PHENOTYPICFEATURE$ and later with superficial @DISEASE$.	false
+b9ffac0bde3d24bf9d5916262d5c764e4efb8be6	For this reason it is prudent for clinicians to consider @DISEASE$ in their differential diagnosis, especially in the setting of a nonhealing surgical wound or @PHENOTYPICFEATURE$.	false
+a53630ebaf62ca63316032447947c01e98fb4af1	She was initially diagnosed with a Staphylococcus aureus @PHENOTYPICFEATURE$ and histopathologically diagnosed with @DISEASE$.	false
+6cf92813a3e0e330826a1b5d7ee822d533e81189	The patient was initially diagnosed with a @PHENOTYPICFEATURE$ and later with @DISEASE$.	false
+f35db438e6d6fe992791f5e519a4b834eb80a587	This review focuses on cross-talks between two main agents, the oxidants and cytokines network, which have recently been found to play important roles in the pathophysiology of a large variety of skin disorders, including carcinogenesis, UVB irradiation damages, inflammatory processes, and a series of diseases such as, psoriasis, @DISEASE$, atopic dermatitis, irritant contact dermatitis, and bacterial @PHENOTYPICFEATURE$.	false
+380d8de54236301c761b9e8ac2b0a860713212ba	The differential diagnoses of AM include acral naevus, @DISEASE$, pyogenic granuloma, verrucous carcinoma and @PHENOTYPICFEATURE$-induced foot ulcers.	false
+6834faf7bbb44bc59edec9fc8db9576f663ec35f	We present a case of a 63-year-old man who developed @PHENOTYPICFEATURE$ ulcerative lesions due to @DISEASE$ in and around a lower limb fasciocutaneous flap used to cover an exposed total knee prosthesis.	false
+615aca02e071a5bd6cc79919d1e25e4828cc89fe	We report an unusual case of co-infection of invasive pulmonary aspergillosis (IPA) and fusarial @PHENOTYPICFEATURE$ in a patient with classic @DISEASE$ with unknown causes, which were previously controlled with oral prednisolone, cyclosporine.	false
+6baa43a4d3fe5b01ab21d98dfbe485b72314cebb	Five had acute tender @PHENOTYPICFEATURE$ nodules on the legs with a clinical diagnosis of erythema nodosum; 2 had subacute ulcerated nodules of the legs; 1 had @DISEASE$-like ulcerations of the four limbs which resulted from the breakdown of subcutaneous nodules; 1 had lupus-like malar flush, and the last one had urticarial lesions with livedo reticularis.	false
+7544328b6f9739a1bcee1ebeb047f2ad52bf5097	Neutrophilic dermatosis (ND; Sweet syndrome and @DISEASE$) was the most prevalent AIM (n?=?24 36%]), followed by Behcet disease (10 [15%]), rheumatoid arthritis (9 [13%]), vasculitis (8 [12%]), myositis (3 [4%]), spondyloarthropathy (3 [4%]), and systemic lupus @PHENOTYPICFEATURE$ (2 [3%]).	false
+15e3436882c8c4f19ae6771b023c4f3205f5580c	We describe the phenotype of a 5 year old girl with features resembling @DISEASE$, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, @PHENOTYPICFEATURE$, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas.	false
+78b78cb91293e578e2f42a61dd29a6468a7a9999	We report on 2 sibs with the @DISEASE$; they had dystopia canthorum, blepharophimosis, and bilateral @PHENOTYPICFEATURE$ of the fingers.	false
+9d44a5447ce0f3c27b4141745ed817221e2aebb7	When performing surgery on ears with @PHENOTYPICFEATURE$ we observed a higher prominence of the anterior edge of the tympanosquamous suture (@DISEASE$).	false
+40d45929d628600ba1bf2f6ceecae1ea5dccef33	Urticaria total severity score (@DISEASE$), @PHENOTYPICFEATURE$ activity score (UAS), Dermatologic life quality index (DLQI) was used as primary effectiveness variables.	false
+e4694f6b65f7ad24914cd2b597e47bdd113940c8	The local complications of peeling include @PHENOTYPICFEATURE$, scarring, milia, ectropion, infection, activation of herpes simplex, and @DISEASE$.	false
+2200ac33f6eb8ee856385bf85a1a3062720ad4db	A retrospective analysis was carried out using preoperative computed tomography (CT) of the @DISEASE$ in patients undergoing surgery for @PHENOTYPICFEATURE$ in the period between January 2006 and December 2008.	false
+9ce89fb568eedb1ea7ffa16fff768943d315e019	Complications of diabetes and total symptom score (@DISEASE$) for @PHENOTYPICFEATURE$ were reported by patients.	false
+09fb8ccc23883244322164cbc7c669f4ab9152e6	Comparing the maximum and minimum distance of the @DISEASE$ in points A and B of all the ears, according to pathological state (heathly ears vs @PHENOTYPICFEATURE$ ears), we detected a reduced minimal distance in A (p=0.036) and B (p=0.014) in the healthy ears with respect to the cholesteatoma ears.	false
+3342030146fb7910fb2c89c79e61e260ee093354	Comparing the maximum and minimum distance of the @DISEASE$ in points A and B of all the ears, according to pathological state (heathly ears vs cholesteatoma ears), we detected a reduced minimal distance in A (p=0.036) and B (p=0.014) in the healthy ears with respect to the @PHENOTYPICFEATURE$ ears.	false
+d18d7a87c2cd5a8104dafbfacbe43076d5fda844	@DISEASE$ cervical @PHENOTYPICFEATURE$.	false
+56b91fe283ed437089af4587b5775270192f8eb0	Upper lip functional loss was not observed, although @DISEASE$ lip @PHENOTYPICFEATURE$ occurred in one patient, which disappeared within 6 months.	false
+53fb272424397bff58dad0e3d3d21d044eb43520	@DISEASE$ lip functional loss was not observed, although upper lip @PHENOTYPICFEATURE$ occurred in one patient, which disappeared within 6 months.	false
+256cc2a901bcd87404181d4572e1f23bcec0fb33	Control, @DISEASE$ airway, and @PHENOTYPICFEATURE$.	false
+e6980660650a62e025c45f0820ae5c194f49c0a5	[Recurring Quincke's edema of the @DISEASE$ lip and recurring @PHENOTYPICFEATURE$ of the facial nerve].	false
+a5af28c4e90815770e7865341fecd73104f033d1	The ubiquitin proteasome system (@DISEASE$) is impaired in Huntington's disease, a devastating @PHENOTYPICFEATURE$ disorder.	false
+8ca41748897ac8010a8db89b9d9b017d51dc9dd9	A rare case of @PHENOTYPICFEATURE$ of nose and @DISEASE$ lip.	false
+92af6c2dc3533ac3c554ffbcdf74de9a013fbc8a	Folliculosebaceous cystic @PHENOTYPICFEATURE$ of the @DISEASE$ lip and labial mucosa.	false
+73aac64bbca45248c9a854cbafe1ec7766bb9b76	All our study patients with RA and @DISEASE$ cervical lesions had obstructive-dominant @PHENOTYPICFEATURE$.	false
+df8b371594a6b1b421b9ffc57f45facbfdaff355	In this article we describe a diagnostically difficult case of a patient with a very rare, total bilateral paralysis of all ocular muscles, accompanied by bilateral ptosis, diminished tendon reflexes of @DISEASE$ extremities, paresis and @PHENOTYPICFEATURE$ of the left upper extremity.	false
+e04724e1b5c23d3c1493265c38b55d5153ef14d4	In this article we describe a diagnostically difficult case of a patient with a very rare, total bilateral @PHENOTYPICFEATURE$ of all ocular muscles, accompanied by bilateral ptosis, diminished tendon reflexes of @DISEASE$ extremities, paresis and hypoesthesia of the left upper extremity.	false
+18f2270aa1953463d5dc69ab9e7c6583a54ae0a9	A @PHENOTYPICFEATURE$ presenting as an intramural @DISEASE$ oesophageal tumour.	false
+2600b63c115b53e2c25909f3a5846ba91082af82	This report presents a heretofore undescribed laboratory variant of @DISEASE$, seen in conjunction with a relatively rare @PHENOTYPICFEATURE$.	false
+465922545e25a8e82d6efbbe5b6c2762ff238201	Simultaneous repair of cardiovascular disorders and @PHENOTYPICFEATURE$ in a patient with Sprintzen-@DISEASE$: A case report.	false
+5f079618f3da8a86e4bd067d4379a143cb28f3a5	We did not find an association between risk of @DISEASE$ and antecedents of stress, diabetes, hypertension, @PHENOTYPICFEATURE$, cardiovascular disease, or rheumatoid arthritis.	false
+9ed00b5104941cf78282a71fcc65cd75da4965dc	Persistent @PHENOTYPICFEATURE$ in a patient with diabetes taking etanercept for the treatment of @DISEASE$.	false
+ec90b4d017411cda55099bbd87af82d0305feffe	In line with previous research, among patients with @DISEASE$ and PSA, we found lipid @PHENOTYPICFEATURE$ and an oxidative imbalance, which might be due to chronic inflammation in these conditions.	false
+6215ee19beed280ca68c8305bcc24888b74885d7	We have previously demonstrated that a dominant @PHENOTYPICFEATURE$ in ZNF750 leads to a clinical phenotype reminiscent of @DISEASE$ and seborrheic dermatitis.	false
+20c16d0507861cc6f5151766b199144195c49113	We report two patients with @DISEASE$ who had episodes of @PHENOTYPICFEATURE$, arthritis, and general fatigue.	false
+34be16e1776b5575fe71936271ef618d0cbd7e29	The healthcare costs of @DISEASE$ management substantially increase with comorbid conditions, such as heart disease, @PHENOTYPICFEATURE$, hypertension, diabetes, and lung disease.	false
+7eceb3545941b8a3a15ee97233dcc0615e1f8095	Erythrodermic @DISEASE$, the most severe form of the disease, is characterized by diffuse erytrema and scaling, often accompanied by @PHENOTYPICFEATURE$, chills, and malaise.	false
+da2f7cdec99467ba29788b7f41d2de94e6d1b92d	Increased risk of atrial and @PHENOTYPICFEATURE$ in long-lasting @DISEASE$ patients.	false
+dcc527564d4afee9f27be7d3ec8a2205d9426fd7	[Chronic arthritis, @DISEASE$ and familial @PHENOTYPICFEATURE$].	false
+2be8351caeac8f20565c261bb2bd1c4e91d74e3c	Additionally, pediatric @DISEASE$ has been associated with certain comorbidities, such as obesity, hypertension, @PHENOTYPICFEATURE$, diabetes mellitus and rheumatoid arthritis, making early diagnosis and management essential.	false
+027f86ee827312e38fdc6c437cb85559fa14405b	Individuals in South Carolina with the Fragile X [fra(X)] or @DISEASE$ have been ascertained by referral for evaluation of @PHENOTYPICFEATURE$, macroorchidism or mental deficit; by screening patients in residential and day programs for the mentally retarded; and by family follow up after an index case has been identified.	false
+7efe9f231c7be619fa724828fabb585c84486e46	@DISEASE$ is a common X-linked hereditary disease, characterized by mental retardation, macroorchidism and mild @PHENOTYPICFEATURE$ and is almost always caused by the absence or deficit of the FMR1 protein.	false
+c3ffde70e78986982533e82f557cfc25bae8508e	A special subphenotype of the @DISEASE$ is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional @PHENOTYPICFEATURE$.	false
+84e2416db614781adfd2432674e970c64e176e45	Genetics of disorders associated with intellectual disability such as primary @PHENOTYPICFEATURE$ and @DISEASE$ have received research attention.	false
+70b588a8f5234d5a48a3ed9cab0e4b516dcd42d6	Relative to age-matched controls, the @DISEASE$ group had faster baseline heart rate and lower amplitude respiratory sinus @PHENOTYPICFEATURE$ (RSA).	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0bd690d0f11a85320f0672db337883e204488640	The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with @PHENOTYPICFEATURE$, PNH with frontonasal dysplasia, PNH with limb abnormalities, PNH with @DISEASE$, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+0594740a7d0f5222da5ef258a442bcbf433dfa62	The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with frontonasal dysplasia, PNH with @PHENOTYPICFEATURE$, PNH with @DISEASE$, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+ac3ed969150b959cd52a50b36a791635e5ae1292	Several findings demonstrate its therapeutic role against neurodevelopmental disorders, including Angelman syndrome, @DISEASE$, sleep-wake disorders, @PHENOTYPICFEATURE$ and attention-deficit hyperactivity disorder.	false
+3f0488f94232586c76ec213a4187c48512a80226	Thus, the HD mutation involves an unstable DNA segment, similar to those described in @DISEASE$, spino-bulbar @PHENOTYPICFEATURE$, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.	false
+c7ac48b8985ed213e2c36951a0663a56f653093b	Huntington disease (HD) belongs to a growing list of neurodegenerative disorders (@DISEASE$ [6], myotonic dystrophy [1], spino-bulbar @PHENOTYPICFEATURE$ [2] etc.) characterized by unstable expanded trinucleotide repeats (so-called 'dynamic mutations').	false
+aeb2352d8eb1629c9170cc03d9b05d0afc1b2b5f	The most common features for @DISEASE$ (excluding dense granular cytoplasm) were nested architecture, @PHENOTYPICFEATURE$ stroma, binucleation and tubular architecture; the most common features for favor RCC were sheet-like architecture, nuclear pleomorphism, papillary architecture, and prominent cell borders.	false
+aeb2352d8eb1629c9170cc03d9b05d0afc1b2b5f	The most common features for @DISEASE$ (excluding dense granular cytoplasm) were nested architecture, @PHENOTYPICFEATURE$ stroma, binucleation and tubular architecture; the most common features for favor RCC were sheet-like architecture, nuclear pleomorphism, papillary architecture, and prominent cell borders.	false
+196625cb4c74dadc1c2438df9c2b87ece51ecacc	Rituximab (375 mg/m(2) intravenously each week for 4 weeks) was administered in a prospective, open-label design to two patients with chronic inflammatory demyelinating polyneuropathy (CIDP), two with @DISEASE$ (MMN), one with neuropathy and anti-myelin-associated glycoprotein (MAG) antibody neuropathy, and one with Sj?gren syndrome (SS) @PHENOTYPICFEATURE$ neuropathy.	false
+70bc0771a1e4d9168378e3771242116ac661a54d	A comparative study of mismatch negativity (@DISEASE$) in epilepsy and non-@PHENOTYPICFEATURE$.	false
+0448fa8ee6eec1f211fa3f7c6946fe92fc8fbb0f	In other chronic neuropathies, antibodies against disialylated gangliosides including GD1b and GD3 are detected in @PHENOTYPICFEATURE$ neuropathies, usually associated with an IgM paraprotein, and antibodies against GM1 and the complex GM1:GalC are frequently found in @DISEASE$.	false
+8399d0a68e5071df0a0c80b6d0741f75dba6e5d0	Pre-axial @PHENOTYPICFEATURE$ type II (PPDII, MIM #174500), @DISEASE$ (MIM %188770) and Haas polysyndactyly (MIM #186200) are a group of closely related conditions caused by mutations in a long-range Sonic hedgehog (SHH, MIM *600725) regulator called ZRS.	false
+916e50cc4ac3d85ab22abb5054e91598c58afbee	@DISEASE$ (WMS), an autosomal dominant disorder characterized by hypoplastic tibiae, triphalangeal thumbs and @PHENOTYPICFEATURE$, is caused by a specific point mutation at the position 404 in zone of polarizing activity regulatory sequence (ZRS).	false
+0a147b3f39b59c9c278ee9a14a6acd49c4315dc3	Adult CNM is a slowly progressive @DISEASE$ with normal CK levels sometimes associated with cognitive impairment, axonal polyneuropathy, and ophthalmoparesis and @PHENOTYPICFEATURE$.	false
+74fe0b42461b981010d267c8ab0f3ff25a3eaca9	A diagnosis of drug-induced ANCA-associated vasculitis (on the basis of mononeuritis multiplex, @PHENOTYPICFEATURE$ and markedly increased anti-myeloperoxidase (MPO) ANCA) and statin-induced @DISEASE$ was made.	false
+e0467d63c6f03ccc2af674af075780375bc4745f	Early onset @PHENOTYPICFEATURE$ is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of @DISEASE$ or neuromyopathy.	false
+9734de40f4a0ef781f2b31a79ad6d9cfd9910aa5	The first child, a female, presented a typical @DISEASE$ with Dandy Walker type CNS malformation, corpus callosum hypoplasia and @PHENOTYPICFEATURE$.	false
+8b616c7c6e09ad4999dc4a7a43f045a8366fe4d1	We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed @DISEASE$ and finger @PHENOTYPICFEATURE$.	false
+45c3ecd25a0c170121aee1e93691a1859a19ae6e	Because human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (@DISEASE$) may occur in some children infected with HTLV-1, we sought to determine the prevalence of @PHENOTYPICFEATURE$ and any associations of neurologic abnormalities with infective dermatitis in these children.	false
+b07ed01d4f25186a74d361277357c2b3cb2464ba	Because human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (@DISEASE$) may occur in some children infected with HTLV-1, we sought to determine the prevalence of neurologic abnormalities and any associations of @PHENOTYPICFEATURE$ with infective dermatitis in these children.	false
+9ae4e80085f20654f7bfb3b259844499e0baae09	Human T-cell lymphotropic virus type 1 (HTLV-1) infection is associated with @PHENOTYPICFEATURE$, such as HTLV-1-associated myelopathy/tropical spastic paraparesis (@DISEASE$) and peripheral neuropathy (PN).	false
+efd2b45a5e5ceb06c321d1b6074c3eeaeee80a87	Human T-cell lymphotropic virus type 1 (HTLV-1) infection is associated with @PHENOTYPICFEATURE$, such as @DISEASE$ (HAM/TSP) and peripheral neuropathy (PN).	false
+c57742dd1be30c7add888095dec5f148c9a632be	Human T lymphotropic virus type 1 (HTLV-1) proviral load in asymptomatic carriers, @DISEASE$, and other @PHENOTYPICFEATURE$ associated with HTLV-1 infection.	false
+42a1813d5e386e6bef1d0fa825b837f587624924	Recent reports have demonstrated that human T lymphotropic virus type 1 (HTLV-1) is associated with other @PHENOTYPICFEATURE$ in addition to HTLV-1-associated myelopathy/tropical spastic paraparesis (@DISEASE$).	false
+78c51bbd3c5a8879eca4d1838efb7dc1a987cbd6	Recent reports have demonstrated that human T lymphotropic virus type 1 (HTLV-1) is associated with other @PHENOTYPICFEATURE$ in addition to @DISEASE$ (HAM/TSP).	false
+1a47e11b06f4d26e52fbfa3211a7eda9c2d2ac94	To assess growth in patients with @DISEASE$, in relation to dietary treatment and to evaluate if overweight/@PHENOTYPICFEATURE$ is more common than in the normal population.	false
+b0ef7a47cb19c762279c5e183f56b74bbea2549c	In conclusion, infantile @PHENOTYPICFEATURE$ is an unusual phenotype associated with @DISEASE$.	false
+aea49cec48ee7aeb018c05936e937b1d72e8f5ac	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+0236478c0789d2a114f91c0a5108b7413b9a7a93	@DISEASE$ is clinically characterized by severe @PHENOTYPICFEATURE$, hypohidrosis, angiokeratomas and various autonomic symptoms.	false
+657bbaf82521094b02be88903a2ae745adf63ac6	We did not find definitive evidence of @DISEASE$ in these children with a history of chronic recurrent unilateral or bilateral @PHENOTYPICFEATURE$ or acroparesthesia.	false
+501941e9d0765e077c5c925703d1e7db598a2269	@PHENOTYPICFEATURE$ is one of the important manifestations of @DISEASE$.	false
+eafa489152fbaf1f60e4634273b09ff5c1c04c7d	Recent studies suggest that heterozygous female @DISEASE$ (FD) patients develop @PHENOTYPICFEATURE$.	false
+98d27e9a4e2e678744cb59e6734804e9ea14e430	Among 214 patients (110 males), 84.1% had bilateral limb pain and 31.8% had unilateral @PHENOTYPICFEATURE$ recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with @DISEASE$.	false
+91b8238b53651ca44ac30ae1df4c22afcc1da822	Among 214 patients (110 males), 84.1% had bilateral @PHENOTYPICFEATURE$ and 31.8% had unilateral limb pain recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with @DISEASE$.	false
+e457b54ca282bfbfb8cb7041615f848eeae15926	@PHENOTYPICFEATURE$ in @DISEASE$ predominantly involves small nerve fibers.	false
+aaa11681987a7e85cdec96bb7d2de0f042234780	[@PHENOTYPICFEATURE$ in @DISEASE$: its physiology, evaluation and treatment].	false
+f34a8c30e39f7f572fbda257e56abf87a224980b	Neurological symptoms of @DISEASE$, including @PHENOTYPICFEATURE$ and cerebrovascular events, are among the most significant clinical aspects.	false
+6da20bd9f74236c3f0e44c81d3fb13071068aee1	@PHENOTYPICFEATURE$ and neuropathic pain are common clinical manifestations of @DISEASE$ (FD).	false
+554bdbeddcd7e2309a307c633feb966804a84c89	Overall, 8 out of 14 children with IPAH had mild to moderate bleeding symptoms and/or @PHENOTYPICFEATURE$ in keeping with @DISEASE$.	false
+37aecfb06265be9306d881f2706adbb26cb71b23	In Wilms tumor several distinct paraneoplastic syndromes have been reported: hypertension, erythrocytosis, @PHENOTYPICFEATURE$, Cushing syndrome, and @DISEASE$.	false
+f81e855d96b92e2600d02ed29b9a2dd7a402ee4b	In this review, paraneoplastic manifestations in children are described, including @PHENOTYPICFEATURE$, Cushing syndrome, precocious puberty, opsoclonus/myoclonus, @DISEASE$, watery diarrhoea syndrome, and hypertension.	false
+ccbda3c431384b72d2e85de8482f6e4d21b2d792	Patients with myeloma and @DISEASE$ (AVWS) undergoing autologous stem cell transplant (ASCT) are at significant risk of bleeding due to the profound thrombocytopenia, low Factor VIII levels, @PHENOTYPICFEATURE$, and toxicities associated with the preparative regimen.	false
+70f86e7562c7d285e0811557473bf39585826790	@DISEASE$ is a rare condition with corneal edema involving the peripheral cornea with orange-brown pigment deposition underlying the @PHENOTYPICFEATURE$ area.	false
+22732c269d2764020bd557e1151315adbe6a4b34	Treatment with @DISEASE$ leads to lower levels of cerebral inflammation, demonstrated by changes in cytokines, chemokines, and cell markers, as well as diminished hemorrhage and @PHENOTYPICFEATURE$, correlating with reduced clinical score.	false
+a2d7bdf5d9f3a0528b8d877914d73dc480f23377	Twenty-two complications were reported among 515 patients, including donor-site hematoma (1 case), mild post-operative erythema (2 cases), mild volumetric asymmetries (2 cases), chronic @PHENOTYPICFEATURE$ (2 cases), overcorrection (2 cases), skin irregularity (6 cases), and headache @DISEASE$ (7 cases).	false
+98ba4fb81c1cba7163767c07ac45c84b8edd80b0	The functional consequences of p.I12T differ from BSND mutations that cause @PHENOTYPICFEATURE$ and deafness in @DISEASE$.	false
+e07cf99d837b0b0d7ebc243f84c9e62bad71e55f	Patients receiving intravitreal bevacizumab injection every 4 months after plaque radiotherapy for @DISEASE$ demonstrated OCT-evident macular edema, clinically evident radiation maculopathy, moderate vision loss, and @PHENOTYPICFEATURE$ less frequently over a period of 2 years than patients not receiving the injections.	false
+c048455ff7fc0ae958491eee01c2a95404285059	@PHENOTYPICFEATURE$ were noted in patient 1, and a nevus anemicus of the neck was noted in patient 3. A unilateral @DISEASE$ was detected in each of these 3 patients, in each patient involving the same eye in which melanocytosis had been seen.	false
+0198c3957e2d8fc3e803c03f8acdfe366b0d4795	The authors studied the role of natural killer (NK) cells in spontaneous metastasis of murine @DISEASE$ by transplanting murine B16 melanoma cells into the anterior chamber of the eye in syngeneic C57BL/6 mice and determining the number of metastatic @PHENOTYPICFEATURE$ colonies after 40 days.	false
+f12b2b68d96fdb6c8ea65972bddfa16581cacaf4	This meta-analysis supports an association between @DISEASE$ and atypical cutaneous nevi, common cutaneous nevi, cutaneous @PHENOTYPICFEATURE$, and iris nevi.	false
+4f5622228b7bc75ca1919760bc51c4b6237aa8cc	Optic nerve invasion by @DISEASE$ is a rare event, which is typically associated with @PHENOTYPICFEATURE$, elevated intraocular pressure, and large necrotic lesions; however, invasive melanoma with optic nerve invasion may occur in the absence of these classic findings.	false
+a7ac0fd094b3054f20b16fb0481e4121e6a01bf3	The relationship between 24 hour total heart beats or @PHENOTYPICFEATURE$ and cardiopulmonary function in patients with Duchenne's @DISEASE$.	false
+ff571cfc4db6a1ea0605bb6576108e571c9826c5	In this study, we identify a deep intronic @PHENOTYPICFEATURE$ in the DMD gene in a patient with @DISEASE$ using both conventional and RNAseq-based transcriptome analyses.	false
+d056ce0a1b01925af0ae8b0e0d2cc17920ccbf2c	Dystrophin glycoprotein complex dysfunction: a regulatory link between @DISEASE$ and cancer @PHENOTYPICFEATURE$.	false
+1bfebb4ed023ec4d498457b0cfe3f157de730a93	Cardiac involvement in classical Steinert @DISEASE$ (dystrophia myotonica, MD1) is characterised by atrial arrhythmias, AV conduction disturbance, @PHENOTYPICFEATURE$ and heart failure.	false
+5f2fad17466e8c5803eced949401e3ed097c6c67	A syndrome characterized by benig @DISEASE$, @PHENOTYPICFEATURE$, congenital cataract and normal karyotype is reported.	false
+f3f37ac34ce6276782481ee810e28e1ce9100020	Our study identifies a possible pathway to target for the improvement of myogenesis in a plethora of diseases including cancer @PHENOTYPICFEATURE$, sarcopenia, and @DISEASE$.	false
+33b4678f00459dfe9463770158a7b47ee6149931	These pathways can promote hypertrophy and combat atrophy in animal models of disorders including @DISEASE$, age-related atrophy, denervation injury, disuse atrophy, cancer @PHENOTYPICFEATURE$, and sepsis.	false
+bbadbf666c1b5bec35915bca5fe3b24cdb017e77	Electrophysiologists are asked to participate in the care of @DISEASE$ patients because of the risk of atrial arrhythmias, conduction disease, bradycardia, @PHENOTYPICFEATURE$, and sudden death.	false
+6d437b5059c1bb5e00885c2e35a6d50385d0d02b	Make suggestions about coupled inheritance of progressive Duchenne type @DISEASE$ and @PHENOTYPICFEATURE$ .	false
+756d5c5a521115bbbbe480089d65a88a87087c0a	The information has application for treating the @DISEASE$, cancer @PHENOTYPICFEATURE$, weightlessness, immobilization, denervation, and disuse atrophy.	false
+72db66ff376de02e07aaf68853b2d2c7d337a21b	Left ventricular non-compaction (LVNC) is a rare @DISEASE$ characterized by heart failure, @PHENOTYPICFEATURE$, and embolic events.	false
+2d8d96f3fa935e32bbd4b44489d72d12a0f5dd0e	Enhanced capillary permeability associated with local interstitial @PHENOTYPICFEATURE$ in specific organs, such as the heart and the kidney, in arterial hypertension and diabetes mellitus, as well as decreased permeability in peripheral tissues, such as the skeletal muscle and the skin, in @DISEASE$, have been documented.	false
+28f87a64ab98e8e1b2a3838aaaa3777379042fe5	Left ventricle non-compaction (LVNC) or persistence of spongy myocardium is a rare form of @DISEASE$ which presents with cardiac failure, thromboembolic events, @PHENOTYPICFEATURE$ and sudden death.	false
+b35dc54bb2ac5bfe0857ddfcbe67e0a7f6fe2eeb	Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, @DISEASE$, hypotonia, @PHENOTYPICFEATURE$, and epilepsy.	false
+7df595b05374cf0fba37f084c0c9c33fdf82c64e	Hyponatremic @PHENOTYPICFEATURE$ and Adrenal Hypoplasia Congenita in a Neonate with @DISEASE$.	false
+c417c92b50105cab393c67956f9a3d309483a90b	Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of @DISEASE$), and pre-surgical planning prior to fetal @PHENOTYPICFEATURE$ repair.	false
+4d88fd58c9d8606bd27155f27dc468bab190a1a0	We have presented a case study of a 32 years-old multigravida para 3, who has been referred to the Reference Centre of Prenatal Cardiology in 30 weeks of gestation due to the diagnosis of acrania with exencephaly, @PHENOTYPICFEATURE$ and suspicion for @DISEASE$ in a fetus.	false
+23eaa41ab7dcb34480ca406b13258c091603f0e8	Fetuses with complete trisomy 9 may be associated with @DISEASE$, an open sacral @PHENOTYPICFEATURE$, elevated MSAFP, and low MSfreebeta-hCG.	false
+bfce74a237d16f3debacc9e4ca61c72bd3190554	This article reviews the modifications of the nail apparatus that can be observed in the following diseases: systemic sclerosis, @PHENOTYPICFEATURE$, dermatomyositis, mixed connective tissue disease, rheumatoid arthritis, periarteritis nodosa, and @DISEASE$.	false
+415641e03c9ae18931633a3da40745db82840c16	We evaluated 32 patients with @PHENOTYPICFEATURE$, 34 patients with hepatitis C virus-associated mixed IgM-k/IgG cryoglobulinemia, 19 with small vessel @DISEASE$, and 20 patients with Sj?gren's syndrome by means of an immunoenzyme method of anti-neuronal autoantibody detection.	false
+3c78a7d976cb6997a551c0a8ee62692707000a9e	Plasma exchange is recommended in anti-glomerular basement membrane disease and in severe DAH associated with @PHENOTYPICFEATURE$ and is used in selected cases in @DISEASE$.	false
+11e6ad58dd0db6ab49fdddeff153b278c1a7abdd	A growing body of research suggests that, in the clinical application of steroid-responsive encephalopathy, such as for Hashimoto's encephalopathy, limbic encephalitis, @PHENOTYPICFEATURE$ encephalopathy, @DISEASE$ encephalopathy, and acute disseminated encephalomyelitis, plasma exchange is a safe, and effective option when steroids or other immunosuppressive therapies are ineffective in the short term or when contraindications are present.	false
+42a10995b83d137b24564fc9fa9976a1f057a2fe	The present paper establishes a narrative and analytical review of diffuse alveolar hemorrhage (DAH) in @DISEASE$, @PHENOTYPICFEATURE$, and antiphospholipid syndrome.	false
+d1c161fd24e697d5c49bbad509704e6c351319d6	@DISEASE$ @PHENOTYPICFEATURE$ due to gunfire.	false
+afba8a514a8e0360fe6daf39b7cc8026cfdfc203	@DISEASE$ @PHENOTYPICFEATURE$, however, is rare, but usually requires life-long treatment and follow-up.	false
+cb9b9470b418f8f6af1ffbaa1ad439fd4a38fb53	@DISEASE$ @PHENOTYPICFEATURE$ is a rare but serious side effect of NSAIDs.	false
+4c2b8e6ebd00a689f2599f3d9e077b9bcf8bd248	Neonatal @PHENOTYPICFEATURE$ is not associated with later development of @DISEASE$ hypoparathyroidism.	false
+93bd29133195abce78fc24f24f86211187950d94	@DISEASE$ childhood @PHENOTYPICFEATURE$ in Australia: incidence and trends, 1954-1971.	false
+b3a76c1d0a56df3136e3dba23c30c39fdce724dc	Childhood chronic inflammatory disease can be associated with transient and @DISEASE$ @PHENOTYPICFEATURE$.	false
+c5ff066cda4ecb1225c82aa23853a27f9aef93a2	@DISEASE$ @PHENOTYPICFEATURE$ associated with furosemide administration.	false
+5faef55c71eef2572803a1faab8b406eb4f3516f	Disabling headache, transient, progressive, and @DISEASE$ neurological deficit, heart failure, @PHENOTYPICFEATURE$, macrocephaly, and intellectual impairment may also occur.	false
+a4ffb47687d1fdf2dc61242a09528daa1dee2e70	Disabling headache, transient, progressive, and @DISEASE$ neurological deficit, @PHENOTYPICFEATURE$, hydrocephalus, macrocephaly, and intellectual impairment may also occur.	false
+33ee7c2c662239916c3d1750d57b01b2af03c76f	[@DISEASE$ @PHENOTYPICFEATURE$ following typhoid fever: case report from Dakar, Senegal].	false
+a7cd919e73e463c3c1e9f094356491089cba9ee5	It may lead to deafness, blindness, cerebral palsy, @PHENOTYPICFEATURE$, cognitive impairment or @DISEASE$ neurological dysfunction in survivors.	false
+1855ff5dcaf81fc443ae6f06d5581582714730f3	It may lead to @PHENOTYPICFEATURE$, blindness, cerebral palsy, hydrocephalus, cognitive impairment or @DISEASE$ neurological dysfunction in survivors.	false
+52236e45b037be0cd128279560972a977ae6ed52	The postmortem examination demonstrated significant pathology of mesenchymal tissues, including @PHENOTYPICFEATURE$, vascular degeneration, and @DISEASE$.	false
+10dafa3cceea5e0aef6a4ecffb142fa0d190ef45	Herein we describe six tremor patients (2 Parkinson's disease, 1 dystonic tremor, 2 @DISEASE$ plus dystonia, 1 Essential tremor plus @PHENOTYPICFEATURE$) who underwent thalamic neurosurgery and acutely or sub-acutely developed dystonia that was permanent in three cases and could not be managed with any adjustments in the stimulation settings.	false
+87604144dd3a93eee5289b33207f11725f1b5d29	Herein we describe six tremor patients (2 Parkinson's disease, 1 dystonic tremor, 2 Essential tremor plus dystonia, 1 @DISEASE$ plus @PHENOTYPICFEATURE$) who underwent thalamic neurosurgery and acutely or sub-acutely developed dystonia that was permanent in three cases and could not be managed with any adjustments in the stimulation settings.	false
+5376730768562fe3c1841cb16133274413509116	The purpose of this article is to create awareness among clinicians on the possibility of @DISEASE$ as a cause of solitary @PHENOTYPICFEATURE$, especially those on the head, neck or upper extremities.	false
+852a415c5a260b4cda5567ef788aabb75cf091b6	@DISEASE$ should be considered along with other benign and malignant conditions in the clinical differential diagnosis of solitary, firm @PHENOTYPICFEATURE$ presenting in adults and the elderly, especially on the head and neck.	false
+38079b194a35341bd45046758c6613b83be0420f	Differential diagnoses include @DISEASE$, hematoma, @PHENOTYPICFEATURE$, fibrosarcoma, or other soft tissue tumors.	false
+f25e373d7ddcd575f645e3ef67698513c7521acd	We analyzed expression and distribution patterns of three RNA processing-related proteins, nucleolar protein (NOP) 56 (identified as causative gene for spinocerebellar @PHENOTYPICFEATURE$ (SCA) 36, nicknamed Asidan), TDP-43, and fused in sarcoma/translocated in @DISEASE$ (FUS) in lumbar and cervical cords, hypoglossal nucleus, cerebral motor cortex, and cerebellum of transgenic (Tg) SOD1 G93A ALS model mice throughout the course of motor neuron degeneration.	false
+b6c17b6545f3ba242c419f08eb4083d1fe7d79bb	Thirteen cases without neurological deficit pre-operation, showed transient neurological deficit ,which were recovered about 10 days post-operation, 12 of 22 cases with pre-operative neurologic deficit, improved one week postoperation, 9 of 22 cases with pre-operative neurologic deficit improved one month after operation, the rest 1 case was recurrent with @DISEASE$ with aggravated hemiplegia symptom after operation, who died of cerebral @PHENOTYPICFEATURE$ 2 months later.	false
+4464c96f701edfc8eb676707470c1a010e4b620f	The nature of the lesions was based on clinical features and/or long term follow-up (ischaemic 20, Virchow-Robin spaces 3, diffuse axonal injury 7, multiple sclerosis 11, hydrocephalus 5, acute disseminated encephalomyelitis 5, Marchiafava-Bignami disease 4, lymphoma 2, @DISEASE$ @PHENOTYPICFEATURE$ each 1).	false
+cbc6a528830648e1ccbf325d762b040d5be1a6bc	Histological diagnosis of the tumors was as follows: teratoma (3 cases), medulloblastoma (3), @DISEASE$ (2), astrocytoma (2), ependymoma (2), craniopharyngioma (1), choroid plexus papilloma (1), @PHENOTYPICFEATURE$ (1), lipoma (1), melanotic progonoma (1), and an undetermined type, probably medulloblastoma (1).	false
+90eb841abe64763a502c1dcd1443079bcb6564fa	A case of @DISEASE$ (GBM) with initial presentation in the orbit following a single @PHENOTYPICFEATURE$ is described.	false
+ea89df1d2393c37d961e1a3db757da51e336dd47	In summary, these results identify a functional role for SOX1 in regulating @PHENOTYPICFEATURE$ cell heterogeneity and plasticity, and suggest SOX1 as a potential target in the GSC population in @DISEASE$.	false
+8dc46a1bb96b2eec3eff16b01f90416ecd805cdc	In contrast, @DISEASE$, astrocytoma, oligodendroglioma, ependymoma, meningioma, neurinoma, pituitary adenoma, craniopharyngioma, hemangioblastoma, @PHENOTYPICFEATURE$, lymphoma and mesenchymal tumor were all negative.	false
+ce402786c6095a38dcb77eb31fbeadc426e6a091	One patient with a @DISEASE$ remained seizure-free for 3 months and experienced 2 @PHENOTYPICFEATURE$ during tumor progression and clinical deterioration but otherwise remained under good anticonvulsant control until his death after 1 year.	false
+32f88db99013a115e7438c3fd8fe47ac5033baf1	@PHENOTYPICFEATURE$ is one of the most common types of brain tumor, which is histologically and clinically classified into four grades (I-IV): I (pilocytic astrocytoma), II (diffuse astrocytoma), III (anaplastic astrocytoma), and IV (@DISEASE$).	false
+6ede6f71120d4b093df071f834f5f783355fdef6	We describe a case of @DISEASE$ endocarditis with severe destruction of the aortic valve with perivalvular abscess formation and @PHENOTYPICFEATURE$.	false
+ab72a4b2e103f101497442ba3628fdef46812f68	We report a case of @DISEASE$ endocarditis in a patient who presented with a slight pyrexia and acute @PHENOTYPICFEATURE$ due to aortic incompetence.	false
+b452613214d73c0c96a3f9b46f07af0ce0ec6262	He also presented with hyperaminoaciduria, @DISEASE$, phosphaturia, hypophosphatemia, @PHENOTYPICFEATURE$, hypouricemia, and hyperchloremic metabolic acidosis, supporting a diagnosis of Fanconi syndrome.	false
+1a9015a553880ca3315d6a8f961909055b8f9165	[@DISEASE$-@PHENOTYPICFEATURE$-mental retardation, Filippi type].	false
+b4c264a368a2a576da4645f0907893931d1b84f3	In both, only the proposita revealed the full pattern of the PPS including @PHENOTYPICFEATURE$, clefts, gingival synechiae, popliteal pterygia, @DISEASE$ and genital hypoplasia.	false
+ed6d07009870226d6149be52857c71df83267968	We report a stillborn girl with a complex syndrome of @PHENOTYPICFEATURE$, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, @DISEASE$ of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes.	false
+2cc7ac1da1a861f9f2814ac63dd65d6f5a7c7c98	We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous @PHENOTYPICFEATURE$, atrophic muscles, camptodactyly, @DISEASE$ of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes.	false
+6f55bada92fb57135041e4c64707e3843297f8ac	An 8-month-old boy with cleft palate, @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+e211a7c4283d0b34bd714c09f2582e144524a22e	Filippi syndrome is an autosomal recessive condition characterized by @DISEASE$ of fingers and toes, @PHENOTYPICFEATURE$, growth retardation and abnormal facies.	false
+13374dbf9c3d98d83fc0dd4327c47e5038a93083	Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b07077a006530b103abede0c6174f92fab57a422	Oculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and @PHENOTYPICFEATURE$, @DISEASE$, and defects in tooth enamel.	false
+1e533df79c35b03fd1a1b28e959eb66896a62c38	The propositus is a male infant with @PHENOTYPICFEATURE$, frontal balding, brachymesophalangy of the second and fifth fingers, bilateral @DISEASE$ of toes 2-3, facial anomalies, choanal atresia and focal epilepsy.	false
+5ce15d638043ed8fd1eb577855da5f72bf79bb57	A common pattern of @PHENOTYPICFEATURE$ is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and @DISEASE$ of the toes.	false
+dab8b34db6e9b499555a7007e078a1835ade5425	Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder involving eye and @PHENOTYPICFEATURE$, @DISEASE$, and enamel hypoplasia.	false
+3213a4132630ad9b834b15b497a6b5dfa78275d6	@DISEASE$ (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and @PHENOTYPICFEATURE$, short stature and intellectual disability.	false
+c670e912785cdbf9c86b9a58d6ddb57270b29d8d	@DISEASE$ (SCAR20) is a recently described disorder characterized by @PHENOTYPICFEATURE$, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities.	false
+0fd550cdc6a9d393e3b3433b5333228cece09539	The repair of a @PHENOTYPICFEATURE$ in a child with @DISEASE$ was performed under replacement of factor VIII.	false
+8f123ddb19248510692be3107f3338514bab6620	A 31 years old male patient, with @DISEASE$. Diagnosed with an abdominal @PHENOTYPICFEATURE$ 10 years ago during routine screening, that progressively grew to encompass the entire abdominal area, with symptoms of intestinal obstruction.	false
+460d9ea8291f7f4e160eb881215a4466ccbabff0	"Intrafollicular @PHENOTYPICFEATURE$" of @DISEASE$: description of a hypothetic early step of the disease.	false
+7b9dcdb799d8eead76f40656e587e508c44547c1	@DISEASE$ (NLPHL) and T-cell/histiocyte-rich B-cell lymphoma (T/HRBCL) are distinct @PHENOTYPICFEATURE$ and are treated differently.	false
+fa38cb00a0a6ca1489234b264a6b4974f5d71231	Insulin-like growth factor I is expressed in classical and @DISEASE$ @PHENOTYPICFEATURE$ and microenvironmental cells.	false
+fe3e82e897d36a255f6645fb018ae13a32f11001	@DISEASE$ (NLPHL), a rare subtype of Hodgkin lymphoma, is an indolent @PHENOTYPICFEATURE$ with frequent instances of disease recurrence but a favorable prognosis.	false
+1102d278583c1dc694fdafe70afee62a58600b56	Bone marrow involvement in @DISEASE$ occurs in @PHENOTYPICFEATURE$ with a variant pattern.	false
+8becf68422714dd63a2c84fb4d98c73ff91c5946	@DISEASE$ (NLPHL) is a rare @PHENOTYPICFEATURE$ type distinct from classical Hodgkin lymphoma and its familial form is unusual.	false
+26ea34571d474052f73c10aa0cbadfc1f95184d9	The aggressive T-cell/histiocyte-rich large B-cell lymphoma and the indolent @DISEASE$ are both characterized by a paucity of @PHENOTYPICFEATURE$ cells embedded in an overwhelming background.	false
+949920b70951dc929ee27093e7b4d6dcefe029bb	Intrafollicular @PHENOTYPICFEATURE$ in @DISEASE$ is correctly identifiable based on immunohistochemical recognition of the CD23+ meshwork of follicular dendritic cells surrounded by an outer zone containing immunoglobulin D+ B cells.	false
+771cd1e128a8daabf6bfcbb3c93ef9fc1ad428be	The role of @PHENOTYPICFEATURE$-infiltrating eosinophils, mast cells and macrophages in Classical and @DISEASE$ in children.	false
+d9976f5b7af3d3775d52158b1a1c7309ff1887ed	Because the @PHENOTYPICFEATURE$ cells in @DISEASE$ (NLPHL) are also derived from B cells, we examined whether NLPHL harbors chromosomal translocations that affect IG loci.	false
+d2b82708421ca72091ff6ffe5552420c4f2181de	Oral administration of AZD2171 (1.5 or 6 mg/kg/d) significantly and dose-dependently inhibited tumor growth in mice bearing KATO-III and @DISEASE$M @PHENOTYPICFEATURE$ xenografts.	false
+72e2e41f1a2ad61ecbaa387371f402c4f6cab79a	Oral administration of AZD2171 (1.5 or 6 mg/kg/d) significantly and dose-dependently inhibited @PHENOTYPICFEATURE$ growth in mice bearing KATO-III and @DISEASE$M tumor xenografts.	false
+e7323fa21b5151610bbd748575987b95eea3f057	To model spontaneous metastasis, @DISEASE$MD3 @PHENOTYPICFEATURE$ were grafted onto the stomach walls of mice fed with the different diets.	false
+fa2908b00f53d0fd7f288b24d651e7baa2e21fc1	Severe generalized muscular atrophia, nerve optic atrophia, ear problem and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+a7829cfa5217c4e523c49b7cde21dbeff21831ed	We report here a newborn male infant with striking features consistent with severe @DISEASE$ type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity @PHENOTYPICFEATURE$, broad big toes and thumbs with varus deviation and genetic mutation in the FGFR2 gene.	false
+dfe84e78bff8844a5c9a69c644c16ad72825902c	Symptoms of @DISEASE$ include decreased mandibular range of motion, muscle and @PHENOTYPICFEATURE$, joint crepitus, and functional limitation or deviation of jaw opening.	false
+d5ce93a0e69ce5dee6f8821561a7b174c646b9e0	Bruxism, joint ankylosis, @PHENOTYPICFEATURE$ and ear itching were more common in @DISEASE$ than non-TMD patients.	false
+68b2f688165c85daf3f29fecb0fa66ba7be4b110	Our findings indicate that habit of teeth clenching in patients with @DISEASE$ affects biomechanically both muscles and joints of the masticatory system, resulting in muscle/@PHENOTYPICFEATURE$, and that stress factor aggravates those symptoms.	false
+454ebf8477d6d9ab213152b9605ebbb15c93564b	Four groups were included in the study: articular @DISEASE$ and systemic @PHENOTYPICFEATURE$ (n=85), no articular TMD and systemic arthralgia (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+24947f7540e48250da244781ed782e7698fa0fa1	Four groups were included in the study: articular TMD and systemic arthralgia (n=85), no articular @DISEASE$ and systemic @PHENOTYPICFEATURE$ (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+3f3641bdf43b61695feb0652a97ff49d0b5e9189	Four groups were included in the study: articular @DISEASE$ and systemic arthralgia (n=85), no articular TMD and systemic @PHENOTYPICFEATURE$ (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+f8dbbcc8e87039c0332fc3646baa4f6e1e4a2cf2	Four groups were included in the study: articular TMD and systemic @PHENOTYPICFEATURE$ (n=85), no articular TMD and systemic arthralgia (n=82), articular @DISEASE$ and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+1175adceb1d2d1d69c8ee1a72c36123557a77664	Four groups were included in the study: articular TMD and systemic arthralgia (n=85), no articular TMD and systemic @PHENOTYPICFEATURE$ (n=82), articular TMD and no systemic arthralgia (n=21), no articular @DISEASE$ and no systemic arthralgia (control, n=72).	false
+90ee77aab0436ededbc3681173bb3698a1815c7d	Four groups were included in the study: articular TMD and systemic @PHENOTYPICFEATURE$ (n=85), no articular TMD and systemic arthralgia (n=82), articular TMD and no systemic arthralgia (n=21), no articular @DISEASE$ and no systemic arthralgia (control, n=72).	false
+d150456a95967c009a703296a397b67c222d49db	Four groups were included in the study: articular TMD and systemic @PHENOTYPICFEATURE$ (n=85), no articular @DISEASE$ and systemic arthralgia (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+6896e7e6f8a8887f430f9afe636c2ebdde807617	Four groups were included in the study: articular TMD and systemic arthralgia (n=85), no articular TMD and systemic @PHENOTYPICFEATURE$ (n=82), articular @DISEASE$ and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+dce48770b68e0a92a8efb165a72a89f06c5b95f4	The levels were also worse in most Axis I @DISEASE$ groups (muscle disorders and @PHENOTYPICFEATURE$/osteoarthritis/osteoarthrosis).	false
+0edd76fe531cc2dde30ae433550f80521f15236b	Significant correlations between severe @DISEASE$ and otalgia (P < 0.001), tinnitus (P = 0.010), ear @PHENOTYPICFEATURE$ (P < 0.001), and aural fullness (P = 0.014) were also observed.	false
+d8304dfdaa82b98d27a21ce907b3952bf54afa41	Maximum unassisted jaw opening, maximum assisted jaw opening, history of locked jaw, joint sound with and without compression, @PHENOTYPICFEATURE$, facial pain, pain on palpation of the lateral pterygoid area, and overjet proved suitable for distinguishing between subtypes of joint-related @DISEASE$.	false
+0f863df2feb53614d483b1545d2e531628af5f21	In accordance with the DC/@DISEASE$ criteria, left TMJ @PHENOTYPICFEATURE$ and degenerative joint disease was diagnosed and was later corroborated by cone beam computed tomography.	false
+e9e54205875a578b82a46b9f9dc773cd5142a293	Neck pain, @PHENOTYPICFEATURE$, and fibromyalgia all appear to increase with age in both genders, whereas abdominal pain and tension-type headaches decrease with age, and migraine headache and @DISEASE$ appear to peak in the reproductive years.	false
+11ecedbb5731eebe36b94811a08098deecc0ae5b	Patients with temporomandibular disorders (@DISEASE$) commonly experience myofascial and @PHENOTYPICFEATURE$, pain-related disability, and other pain conditions including depression.	false
+2ffd8ccaa0ada54f5a3584ef99939a6bf6c7ba6a	To highlight this difficult issue and its emergency management and repair, we present this report of a 46-year-old man, who was known to have @DISEASE$ and who was hospitalised for incarcerated inguinal hernia, massive chylous ascites, severe lower limbs oedema, hypoproteinaemia, @PHENOTYPICFEATURE$ and hypocalcaemia.	false
+ba253fe1a90b88e061026a3bbb06675f9372b6ff	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and @PHENOTYPICFEATURE$.	false
+dc8db4edfe159cf2f7aab599491deae177b6bf11	Fourteen patients with cognitive decline (six with mild @PHENOTYPICFEATURE$ and eight with Alzheimer's disease) underwent three @DISEASE$ applications per week to both the cerebral cortex and auricular-specific sites for a total of 5 weeks.	false
+609a9cf50153093aad6131b4eb05378370734a50	Aminolaevulinic acid @DISEASE$ porphyria is a rare autosomal recessive disorder and a child who presented with @PHENOTYPICFEATURE$ and required transfusions and parenteral nutrition did not improve with LT.	false
+e384262a4cf719e0862226ab0353e55d53cfa3c1	@PHENOTYPICFEATURE$ is a clinical feature present in both @DISEASE$ patients and its pathogenesis is still unknown.	false
+72f2905d1a94551f9e9841717c7ec79ee2154265	Some of these DNA sequences have been shown to be linked to disease loci such as @DISEASE$, X-linked @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+75238b00298bdcc8bbe280cda1c1141fc3583f3e	@DISEASE$ are X-linked allelic disorders in which the association of central nervous system dysfunction, typically in the form of @PHENOTYPICFEATURE$, is a well recognized feature.	false
+ba3d8135640cb259ee1587192f830033c965fdae	In @DISEASE$ abnormal or deficient dystrophin expression leads to muscle degeneration and has been implicated in @PHENOTYPICFEATURE$ and a form of night blindness.	false
+68da64799d9ba940d30df259eb6c9782ea47714e	@DISEASE$, is a rare @PHENOTYPICFEATURE$ characterized by abnormal dentin formation affecting the roots of both primary and permanent teeth.	false
+5ebb2667a78985a049bf30088d270657179b3af0	Other clinical features were @PHENOTYPICFEATURE$ headache, hearing loss, diabetes mellitus and @DISEASE$.	false
+0c414953614b9c7f634698d5c11e2626a9908254	We studied TNF alpha plasma levels in 49 stable peritoneal dialysis (PD) patients, with the aim of correlating those levels with the presence and severity of @PHENOTYPICFEATURE$, @DISEASE$, and anemia.	false
+c5bf3dd449a407e3a76e108b83ddccb26af466a7	Mutations of Dynamin 2 (DNM2) are responsible for several forms of neuromuscular disorder such as centronuclear myopathy, Charcot-Marie-Tooth disease (CMT) dominant intermediate type B, CMT 2M, and lethal congenital contracture syndrome 5. We describe a young man manifesting as length-dependent sensorimotor neuropathy with @DISEASE$, but his mother only had very mild symptoms of @PHENOTYPICFEATURE$.	false
+188e850c0fe1f425d57170bb75c966d66a68500b	Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, @PHENOTYPICFEATURE$ and heart disease (most commonly pulmonic stenosis and @DISEASE$).	false
+a64310d160b4726b8a039864373c8c083c434084	Postmortem examination performed after medically indicated termination of pregnancy confirmed CNS abnormalities and provided additional evidence for skin @PHENOTYPICFEATURE$, nascent cataracts, and @DISEASE$.	false
+89320b1bc5e8a8b447551916aa03f4b6809d127c	Administration of adriamycin on week 9 resulted in regression of macroscopic @DISEASE$-LM6 @PHENOTYPICFEATURE$.	false
+d1018349526cd0285412abfde2be557d2fc01c0d	Here, I reviewed the characteristic symptoms and their pathophysiologies of @DISEASE$, DYT-1, autosomal dominant GTP cyclohydrolase I (ADGCH I) deficiency, Tourette syndrome (TS) and Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH), and suggested that the brainstem aminergic neurons modulating the locomotion have roles for development of the frontal cortex, the dopaminergic neurons and basal ganglia pathways involving in the action dystonia for motor execution and the serotonergic and the dopaminergic neurons projectioning to the nonmotor basal ganglia thalamocortical circuits for development of the frontal area, the targets of the circuits.	false
+acde976914c915299fe965604c54a57c501f11df	Here, I reviewed the characteristic symptoms and their pathophysiologies of @DISEASE$, DYT-1, autosomal dominant GTP cyclohydrolase I (ADGCH I) deficiency, Tourette syndrome (TS) and Early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH), and suggested that the brainstem aminergic neurons modulating the locomotion have roles for development of the frontal cortex, the dopaminergic neurons and basal ganglia pathways involving in the action dystonia for motor execution and the serotonergic and the dopaminergic neurons projectioning to the nonmotor basal ganglia thalamocortical circuits for development of the frontal area, the targets of the circuits.	false
+6aa21e81ba6e666dd629f1f910b4685fdd3a4981	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, @DISEASE$ and Mowat-Wilson syndrome, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+891a1d3edb34fab48d749bfa8641603dabc8b736	We report on a child of a diabetic mother with this unusual form of hallucal polydactyly, together with other @PHENOTYPICFEATURE$, confirming that this malformation is a useful clinical marker for the diagnosis of @DISEASE$.	false
+a3fcf1b0350fc69c4d02c3bd3ecb4c45f6dd323e	@DISEASE$ and @PHENOTYPICFEATURE$ in horses: a primary combined immunodeficiency disorder.	false
+202004ccec4e1aa7c75bf0fbf821b60a63b045f0	disease (GVHD), i.e. weight loss, diarrhoea, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0bc6701c83be817ecab9105f3079c8e5ae72bc1e	This study describes the fifth case worldwide of autosomal recessive @DISEASE$ due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive @PHENOTYPICFEATURE$.	false
+f0098f719a1b985a6a0204153cb523546fe1f24c	@PHENOTYPICFEATURE$, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and @DISEASE$ A in Kabuki syndrome: a rare combination.	false
+50eaccc76be443d4709f88ee5d0cb96747330396	Little is known about the prevalence of @DISEASE$ among adults with @PHENOTYPICFEATURE$ (now known as learning disability), although they may be at increased risk of fractures.	false
+f158bbcfa61178da1a57dbde0e82338a71386a20	[2 Case reports on corpus callosum degeneration; possible existence of a clinical syndrome characteristic of @DISEASE$: dementia, opposition @PHENOTYPICFEATURE$ & astasia-abasia].	false
+bdba806fe6bcdf2f0e020329c1a06644f8eaf034	Aluminum toxicity has now been conclusively shown to cause @PHENOTYPICFEATURE$, @DISEASE$, and microcytic anemia.	false
+af92cc49c6bd551173849852e126320b44b1b444	Complications of Al toxicity include @DISEASE$ (MBD), Al-associated @PHENOTYPICFEATURE$ in adults, and impaired neurological development in preterm infants.	false
+09afb6114dcbe59bdc3c73a8e5bb3b4d3ffaadb6	Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, @PHENOTYPICFEATURE$, renal disease, and @DISEASE$.	false
+353b1c5f57045bde8a3139ec547a6afc0dd6924e	The possible association of aluminum not only with @DISEASE$, but also with @PHENOTYPICFEATURE$, dictates caution when dealing with the pediatric population on long-term parenteral nutrition.	false
+3b792b009a4eb12293016ef429d18e9a6a27f696	Fourteen bones with longitudinal epiphyseal bracket, 3 wrists with @DISEASE$, and 5 cases of osseous syndactyly were treated with free fat graft with osteotomy, physiolysis, or separation of osseous @PHENOTYPICFEATURE$.	false
+00dee365f3b6253f92e7fcb67b517faf5bfab2e7	Fourteen bones with longitudinal epiphyseal bracket, 3 wrists with @DISEASE$, and 5 cases of osseous @PHENOTYPICFEATURE$ were treated with free fat graft with osteotomy, physiolysis, or separation of osseous syndactyly.	false
+4040d6c2dfa228a39ac4515b0345e15e90f81ef5	The segregation of brachydactyly with PHP 1b in this family indicates that an imprinting defect in GNAS can lead to growth plate defects, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c75e9cf669e50b938336e80790fdca10aac221f9	The segregation of @PHENOTYPICFEATURE$ with PHP 1b in this family indicates that an imprinting defect in GNAS can lead to growth plate defects, including brachydactyly and @DISEASE$.	false
+9873632e398abd141322a322f251fe7c25c06855	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+095b01655ccb7d1401a7ba33c52209b051475626	Phf6 gene expression and nuclear localisation of Phf6 protein correlate with clinical symptoms in @DISEASE$ patients, namely @PHENOTYPICFEATURE$, pan-anterior pituitary hormonal deficiency and facial as well digit abnormalities.	false
+74e247aa9cf75aad36fcc3e319431a25a449b8eb	In addition, we could not find any other cause for the pleural effusion (such as tuberculosis, @DISEASE$, or @PHENOTYPICFEATURE$).	false
+b3bbcd466a76eca05b04a1efc01b8f84f7b47bdc	Previous surgery, @PHENOTYPICFEATURE$, diabetus, @DISEASE$, combined chemotherapy, all these factors can lead to a modification of the irradiation technique.	false
+734ee765ea48a9d43b140878a757d3d4e8a1aa48	There are many cause of cholinesterase deficiency, including drugs, liver disease, chronic anemia, malignant states, @PHENOTYPICFEATURE$, severe acute infection, surgical shock, severe burn, @DISEASE$ and vasculitis syndromes.	false
+c0d03697b0126cf55f5da74163804a8019693dec	@PHENOTYPICFEATURE$, hypertension, and rheumatoid arthritis/@DISEASE$ were risk factors for early-onset but not late-onset recurrence.	false
+6ca95ff67bb1a5d63e32d45217e8bb9208825d69	When the cut-off value was fixed at the mean+2 SD of absorbance in normal controls, positive reactions were found in 19.4%, 7.1%, 18.5% and 15.8% of patients with ischemic heart disease, @PHENOTYPICFEATURE$, valvular heart disease, and @DISEASE$, respectively.	false
+917cdafeae5e6d1e486bbd721848936954b5edf0	Qiliqiangxin capsule (QL) was developed under the guidance of TCM theory of @DISEASE$ and had been shown to be effective and safe for the treatment of @PHENOTYPICFEATURE$.	false
+1d6299eb48311887fdcc5c199b3185bb34354c2a	In 4 cases azygography appeared normal and further laboratory work-up revealed @DISEASE$, @PHENOTYPICFEATURE$ and lung cancer.	false
+fe8dd33b6fcdd898695672377d86b596afb15d9a	Fetal tachyarrhythmias are of clinical importance, because of the danger of fetal cardiac insufficiency, and atrioventricular blocks because they are closely associated with infantile @PHENOTYPICFEATURE$ and maternal @DISEASE$.	false
+cedee585543d223ba85ccf405047bf0611c98225	The study excluded patients with hemodialysis requirement, @PHENOTYPICFEATURE$, malignant neoplasm, or @DISEASE$.	false
+0fb11c6c05fb6b2d86b2b9fe6b3abed9221540f4	PO rats showed progressive wall thickening consistent with concentric hypertrophy, while VO rats showed marked left @PHENOTYPICFEATURE$ consistent with @DISEASE$ hypertrophy.	false
+305772d9efd54efc8204aa7c08e0fb4e3a85abad	These findings suggest that @DISEASE$ hypertrophy of the remote myocardium, but not expansion of the infarct region, is responsible for left @PHENOTYPICFEATURE$ after AMI.	false
+aabefdca4a1af321c837e1a90217df283cfa9c6a	In response to chronic volume-overload, an increased diastolic wall strain leads to the addition of sarcomeres in series, resulting in a relative increase in cardiomyocyte length, associated with @DISEASE$ hypertrophy and @PHENOTYPICFEATURE$.	false
+b050ae29f9249810bb69c5de60f529c947d204ed	Three types of anatomic LVH were simulated: concentric and @DISEASE$ hypertrophy, and left @PHENOTYPICFEATURE$.	false
+bc39751b1d00431772823f5f9619b88574b1d6b6	Cardiac adaptation to obesity consists of left @PHENOTYPICFEATURE$ and hypertrophy (@DISEASE$ hypertrophy) irrespective of arterial pressure levels.	false
+223a67a1728a01bdd1c3c3637be6e126808b7fb6	Aortic regurgitant animals developed left @PHENOTYPICFEATURE$ and @DISEASE$ hypertrophy that remained relatively stable throughout the follow-up period.	false
+7c626e4852eaf077c837e2fafda474a3768a9c9d	After TAC, RyR2(R4496C+/-) hearts responded with @DISEASE$ hypertrophy, substantial fibrosis, @PHENOTYPICFEATURE$, and reduced fractional shortening, ultimately resulting in overt HF.	false
+f7c85941eea0a74de504bbc5472bc278bea7c244	Autopsy demonstrated @DISEASE$ hypertrophy and mild left @PHENOTYPICFEATURE$.	false
+18e06ee2b3b076e4634e9a8ac0e41ce5c16aca1f	Animals with aortic regurgitation developed progressive left @PHENOTYPICFEATURE$ and @DISEASE$ hypertrophy.	false
+3ff4df03c39604002e95f0d62e624ac089d32503	In 1992 one child died after delivery because of left heart hypoplasia and @PHENOTYPICFEATURE$; in 1993 one woman delivered fetus mortus: one child died, in 1994, with @DISEASE$ and lung hypoplasia; in 1995 there were no deaths after delivery.	false
+619bc08febf809c71f4214deb61818286ffc261d	A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with @DISEASE$ (CDH), mild to moderate @PHENOTYPICFEATURE$, and/or features consistent with Diamond-Blackfan anemia.	false
+9027ad010d77be76a95353e6fb672fe2e8263c64	In all children with the triad of upper respiratory illness (URI) or infiltrate on chest x-ray, @PHENOTYPICFEATURE$, and x-ray evidence of bowel obstruction, the diagnosis of @DISEASE$ (CDH) with incarceration and bowel obstruction should be entertained.	false
+2d78c3482569575d001786e459432d5d90c735e2	Fukuyama-type @DISEASE$ (FCMD), the second most common childhood @PHENOTYPICFEATURE$ in Japan, is caused by alterations in the fukutin gene.	false
+cd7a156baeec7c0880b2858d80d6063532d2a949	@DISEASE$ is one of the most frequent and severe childhood @PHENOTYPICFEATURE$.	false
+fec587567c3c54bacc7616b93679a21b8d28b3f6	Fukuyama-type @DISEASE$ (FCMD) is characterized by @PHENOTYPICFEATURE$ and cortical dysgenesis of the cerebrum and cerebellum.	false
+fa26b3ed0212682e108aec22443715f163cc39c5	Associations among several orofacial dysfunctions such as articulatory speech disorders, craniomandibular disorders (@DISEASE$) and problems in coordinating the orofacial muscles were examined in two groups of Finnish first-graders, i.e. children with and without @PHENOTYPICFEATURE$.	false
+89176ca735c8a5cc87164c9214c4c5657f1623ed	Associations among several orofacial dysfunctions such as articulatory @PHENOTYPICFEATURE$, craniomandibular disorders (@DISEASE$) and problems in coordinating the orofacial muscles were examined in two groups of Finnish first-graders, i.e. children with and without speech disorders.	false
+e2b9ee2c670474cb3f3db226a194d6c8b6a58869	Fukuyama type @DISEASE$ (FCMD), the second most common form of childhood @PHENOTYPICFEATURE$ in Japan, is an autosomal recessive severe muscular dystrophy, associated with brain anomalies due to neuronal overmigration.	false
+af749439b7612d97e86d7ef42bde13c099dc76da	Fukuyama type @DISEASE$ (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe @PHENOTYPICFEATURE$, associated with brain anomalies due to neuronal overmigration.	false
+6c3057bd321bfdf3fba29a2f278c19c6a153b67b	Fukuyama type @DISEASE$ (FCMD) is an autosomal recessive @PHENOTYPICFEATURE$ associated with an anomaly of the brain.	false
+cf9e782ffc08ae9056f50e8eaaec1695332b9e63	We studied 36 patients with @PHENOTYPICFEATURE$ and either mental retardation, structural brain changes or abnormal alpha-dystroglycan immunolabelling, unlinked to any reported @DISEASE$ loci.	false
+c16732cd54a4387b6ba4f529667bf45d72157c1d	Central nervous system manifestations in childhood @PHENOTYPICFEATURE$ (@DISEASE$).	false
+c06a8ea1f6d92317f6344c78efba339af8be08de	Furthermore, the dy @DISEASE$ mouse offers a novel model for evaluation of sensorineural hearing loss associated with @PHENOTYPICFEATURE$.	false
+8b30246c7be2619bf96af3ce70bd8bd9c6b476bb	@DISEASE$ (CMD) are a heterogeneous group of muscle disorders characterized by early onset @PHENOTYPICFEATURE$ and a variable involvement of the CNS.	false
+2f65d370a2aeaede8fc67eaf6877c89e5ace3c02	Congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of muscle disorders characterized by early onset @PHENOTYPICFEATURE$ and a variable involvement of the CNS.	false
+fb33c03b18a27227baa1f08ae35620e5e47fa5d1	Germ-line mutations in the prolyl hydroxylase domain 2 gene (PHD2) have been reported in patients with @DISEASE$ but not in association with @PHENOTYPICFEATURE$.	false
+efadf14636a70bcc515d3138afc78946ed03c891	@PHENOTYPICFEATURE$ and reduced @DISEASE$ were uncovered in a substantial number of their otherwise healthy asymptomatic mothers.	false
+c1d660246714aa59be5498b626ee4937e3264525	In this study, 24 months of rhGH was a safe and effective therapy for the @PHENOTYPICFEATURE$ of SHOX haploinsufficiency, with no clinical deterioration of @DISEASE$.	false
+9d44a7a7c802f76f537d24c3c95d0ffb40ebd850	rhPTH-(1-34) treatment for 1 yr increases @DISEASE$ in ovariectomized monkeys without inducing sustained hypercalcemia or @PHENOTYPICFEATURE$.	false
+e5bfe553e158c0c29f5b229d6a2b9bc86e07cf66	@PHENOTYPICFEATURE$, duration of epilepsy, and polypharmacy were significant determinants of @DISEASE$, more so at skeletal sites enriched in cortical bone.	false
+3f8e8cd79645be03601d560a5c0695353f6318cb	One patient with undiagnosed @DISEASE$ received succinylcholine and developed acute rhabdomyolysis and @PHENOTYPICFEATURE$ cardiac arrest.	false
+d4bdc28846b0d515b9317b3c5c4b1aea2d94df57	Despite calcium and vitamin D supplements, this group of patients with sarcoidosis had low @DISEASE$ but relatively infrequent @PHENOTYPICFEATURE$ and hypercalcemia.	false
+2e0a150542ad0f86a25a53e80f52fb5003938e4c	Significantly increased @DISEASE$ was observed in patients with ankylosing spinal @PHENOTYPICFEATURE$ (ASH) in addition to OPLL.	false
+6fff94abae50f1e444b2a2f17cc6db278fafd625	We recently demonstrated that although @DISEASE$ in Finnish children with haemophilia was within the normal range, their whole body BMD was significantly lower and @PHENOTYPICFEATURE$ more prevalent than in controls.	false
+f173b745dfc7fbcc5549ca029699f92154cc0ac7	We recently demonstrated that although BMD in Finnish children with haemophilia was within the normal range, their whole body @DISEASE$ was significantly lower and @PHENOTYPICFEATURE$ more prevalent than in controls.	false
+85d83f8f6d8ed4d2bab1273ede362da21763bb5a	Those patients with absorptive hypercalciuria had higher @DISEASE$ in the femoral neck than those with renal @PHENOTYPICFEATURE$ and non-hypercalciuria.	false
+afcca6674287edf28e9a056e7ed2b63c24ed873c	There is however controversy about vertebral @DISEASE$ in patients wuse idiopathic skeletal @PHENOTYPICFEATURE$ (DISH).	false
+fd30e82f99263e59bf648b692b6f13f255c39d81	No case in the AMT group demonstrated corneal haze, @DISEASE$, symblepharon, @PHENOTYPICFEATURE$, or lid-related complications.	false
+5c1ae8e944776af2aae9641e21734db5aaa13697	The autoimmune disorders associated with alopecia areata included: hypothyroidism (4.3%), vitiligo (3.5%), @DISEASE$ (1.8%), systemic lupus erythematosus (SLE 0.9%), @PHENOTYPICFEATURE$ (0.9%) and diabetes mellitus (0.9%).	false
+9b1b17ebd554d010f93511fb45b3d0e3ad13e950	Increasing doses of capsaicin were applied topically to the forearm skin of 30 patients with @DISEASE$, 16 patients with systemic @PHENOTYPICFEATURE$ and 16 healthy volunteers.	false
+350e9f506ef6c73ea8c25299d10cd2f464670226	@PHENOTYPICFEATURE$ is more common in psoriatic patients and hypertension in men with @DISEASE$.	false
+1f46635bb7c989204ec9804def9c0f22376ae6d7	This chapter reviews the data on the use of curcumin for the chemoprevention and treatment of various skin diseases like @PHENOTYPICFEATURE$, @DISEASE$ and skin cancer.	false
+515b56f400db652158010a1ddfa4e63d019b799a	Nivolumab was approved in the second-line therapy in squamous cell lung cancer by FDA, with less than 10% unusual skin reaction, like @PHENOTYPICFEATURE$, peeling skin, erythema multiforme, vitiligo, and @DISEASE$.	false
+652c4298c31542820ca839e28d6b2072b1afc4e9	There is no strong evidence of an increased risk of @PHENOTYPICFEATURE$ in @DISEASE$ patients treated with retinoids.	false
+2784b4d127bf8fa71fff3f1deb1784656090d217	Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, @PHENOTYPICFEATURE$, glaucoma, @DISEASE$, and other conditions.	false
+a496df77184fc1687147925cad286ace5cc43f04	However, the use of VDR in above mentioned indications as well as in oral therapy for psoriasis and even topical therapy for severe @DISEASE$ is hampered by its associated toxicity, namely @PHENOTYPICFEATURE$.	false
+8a7106142b37fa7ad3ca919a9767a5120aedb2d0	However, the use of VDR in above mentioned indications as well as in oral therapy for @DISEASE$ and even topical therapy for severe psoriasis is hampered by its associated toxicity, namely @PHENOTYPICFEATURE$.	false
+e97e1ee26a5893cef96a91dc203665d21a06fdcc	Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, @DISEASE$, aortic calcification, and @PHENOTYPICFEATURE$ including tendon rupture and arthropathy.	false
+b0302625956ec7e73c9a89cf6f40d98af409d6e2	The use of curcumin for treating various skin diseases like @PHENOTYPICFEATURE$, @DISEASE$, and skin cancer was extensively reported.	false
+95340f3b8d6a56d827e834a6a92ee0d980ea0624	A 24-year-old woman presented with headache, @PHENOTYPICFEATURE$, and was found to have chronic superior sagittal sinus (@DISEASE$) thrombosis and multiple dural arteriovenous fistulae (dAVFs).	false
+d4aa87d7360038a898e4a0b1577b60c944e85c5f	Levels of consciousness, @PHENOTYPICFEATURE$, headache and atheroma markers used in @DISEASE$ were applied to patients who met the criteria for stroke.	false
+ec0e8972949859b53aaade3cfa097ca113dd7e03	On the first day of the disease the assessment included state of consciousness, brain stem signs, @PHENOTYPICFEATURE$, stroke type on the basis of clinical condition (according to Oxford classification, OCSP), blood pressure, body temperature measurements, intensity of neurological signs according to Scandinavian scale (@DISEASE$).	false
+d67184bf3f1789f7cefa2d61834b0fa9e8f582db	@DISEASE$ in Twin Sisters with @PHENOTYPICFEATURE$.	false
+ea8fd1d6aa41987c4991bf6dc609f3bcd7129ff6	Congenital insensitivity to pain with anhidrosis (CIPA), also known as @DISEASE$, features loss of @PHENOTYPICFEATURE$ sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable mental retardation.	false
+f88ed7d3c234de574dfc634157c7d891291b757d	Noninfectious uveitis is a kind of recurrent @DISEASE$ and a major cause of @PHENOTYPICFEATURE$ in clinical practice.	false
+044df6ae25e7c1cce627bd375f4b704737996db7	This is the first report of a mutation in MYH1 and the first link between a skeletal muscle myosin @PHENOTYPICFEATURE$ and @DISEASE$.	false
+182c74dc095a28ada1662b20f42fa78c65e0b755	Symptoms common to sarcoidosis and @DISEASE$ include keratoconjunctivitis sicca, weight loss, @PHENOTYPICFEATURE$, lymphadenopathy, pulmonary complaints, and cutaneous lesions.	false
+cbc4a9b2fad87bea9fbe2a477ea579cd31e023b8	The association of @PHENOTYPICFEATURE$ and @DISEASE$ has been largely documented, suggesting that autoimmune disorders could be overrepresented in patients with vertigo in comparison to the general population.	false
+50a00ff641882fb196f391786af131159f011141	The association of @PHENOTYPICFEATURE$ and autoimmune diseases has been largely documented, suggesting that @DISEASE$ could be overrepresented in patients with vertigo in comparison to the general population.	false
+6dc1524eab1bbeb7b6914a57135b8c2465da186b	Thymomas are rare tumours that sustain T-lymphopoiesis and trigger a variety of @DISEASE$ and immunodeficiencies, including a fatal @PHENOTYPICFEATURE$, namely Goods Syndrome (GS).	false
+3266bdc5ace8ed7211e33181537c167f49cd982f	Ocular-cicatricial pemphigoid is an @DISEASE$ that, untreated, progresses to conjunctival scarring and @PHENOTYPICFEATURE$; systemic immunosuppression is required to control it.	false
+7e5a9cf549cfd064728c77423bbbc307e7dfe9c0	@DISEASE$ of the eye, exemplified by Beh cet disease and Vogt-Koyanagi-Harada disease, are a major cause of @PHENOTYPICFEATURE$.	false
+5694c26003a96afedeb0bc7779b0539686587db5	Interleukin (IL)-6 is a key mediator in the regulation and coordination of the immune response and participates in pathogenesis of cancer @PHENOTYPICFEATURE$, @DISEASE$, and postmenopausal osteoporosis.	false
+2512008cb906117e6819e7a95dd2b625ea6a0426	In each patient, @DISEASE$ manifested as severe joint pains, myalgias, @PHENOTYPICFEATURE$, rash, and proteinuria.	false
+41d7645cad271b219188dc3e609cf43760705506	The possibility of an underlying @DISEASE$ should be considered in a patient presenting with distal tubular @PHENOTYPICFEATURE$ or recurrent hypokalemic periodic paralysis as treatment of primary disease improves the outcome of illness.	false
+030049b880a018740acd95e9460369f6edbfdc98	Historically, it has been distinguished from @DISEASE$ (MS) by the presence of vascular malformations and nonskeletal @PHENOTYPICFEATURE$ (NSN) in the latter.	false
+a55e3c3b6c224575b2004574d72ebfe491bff548	UDCH is distinct from @DISEASE$ in that enchondromata and malignant @PHENOTYPICFEATURE$ are absent.	false
+cf9a2c17aea445e515e204c0d279b84e178a038b	In these cases there is the threat of a @PHENOTYPICFEATURE$ becoming malignant (neurofibromatosis, @DISEASE$).	false
+ba49f501efc067c8f485585b54c1d7b8b4911633	@DISEASE$ is a rare dysembryoplasia associating cartilage tumors similar to enchondromas in Ollier's disease and vessel @PHENOTYPICFEATURE$.	false
+55f981d966d561a70da4b1523c4b8f51a1117962	@DISEASE$ is a rare dysembryoplasia associating cartilage @PHENOTYPICFEATURE$ similar to enchondromas in Ollier's disease and vessel tumors.	false
+e70c6d422ff6685d0b82a4c04cc069f05001de9d	@DISEASE$ and @PHENOTYPICFEATURE$: a case report and review of the literature.	false
+297c68fe4809c98ef6c7623d9ffec557d8648cea	Malignancies are a common feature of @DISEASE$, with chondrosarcomas being the most common @PHENOTYPICFEATURE$ type.	false
+13b49611c25bdbdaafa4e693c9c9a305fa58b6dc	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in Maffucci syndrome were glial; other @PHENOTYPICFEATURE$ included pituitary adenoma, olfactory neuroblastoma, malignant chordoma, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their @DISEASE$ counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with Maffucci syndrome and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+c376231a7e8f1acf4ae5e3000e11cceeb1238fa0	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in Maffucci syndrome were glial; other @PHENOTYPICFEATURE$ included pituitary adenoma, olfactory neuroblastoma, malignant chordoma, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their Maffucci syndrome counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with @DISEASE$ and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+b18d95808207917ef61b48427ae68d2833019797	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in @DISEASE$ were glial; other @PHENOTYPICFEATURE$ included pituitary adenoma, olfactory neuroblastoma, malignant chordoma, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their Maffucci syndrome counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with Maffucci syndrome and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+7f73fe273f3a17256b7f8103d60e79679a6eb548	Both are associated with chondrosarcomas and other nonsarcomatous @PHENOTYPICFEATURE$ (NSN), but @DISEASE$ is thought to have greater malignancy potential.	false
+ebdab8627891864c7409b8eaa98936d895568fcd	Unpaired Student's t tests were used to compare OD and Maffucci syndrome, and chondrosarcoma and NSN patients for mean age; Pearson chi analysis was used for comparisons of gender distribution, geographical distribution (by continent), site of lesion, and for OD versus @DISEASE$, @PHENOTYPICFEATURE$ type (chondrosarcoma versus NSN).	false
+6ef7c93ab04dd08293472f921bbd2a6f99c48034	Unpaired Student's t tests were used to compare OD and @DISEASE$, and chondrosarcoma and NSN patients for mean age; Pearson chi analysis was used for comparisons of gender distribution, geographical distribution (by continent), site of lesion, and for OD versus Maffucci syndrome, @PHENOTYPICFEATURE$ type (chondrosarcoma versus NSN).	false
+5b244e6c06fd138d78ad1c3e165df89e9a34bec0	To the authors' knowledge, this report provides the first genetic evidence for the inclusion of pituitary adenomas among @PHENOTYPICFEATURE$ characterizing @DISEASE$.	false
+0aa3a979ffd1db551374ba6fe72c684e94d42c4e	Rheumatoid disease of the CNS with @DISEASE$ vasculitis presenting with a @PHENOTYPICFEATURE$.	false
+85a641cf8f24517869ee98c52aaae271123d0d34	The barrier function is modified by inflammatory @DISEASE$ lesions, stroke and @PHENOTYPICFEATURE$.	false
+69483bc681ae114f95586a9c62ad91096afb7504	After surgical, tuberculostatic, and immunosuppressive treatment failed to control the progressive @DISEASE$ hypertrophy, causing severe headache and neurological @PHENOTYPICFEATURE$, the disease process eventually abated with intraventricular cytarabine treatment.	false
+613401794a9d45c0df1d2338f59c23a9f2a967df	[Vestibular @PHENOTYPICFEATURE$ caused by @DISEASE$ carcinomatosis].	false
+11a44f8f90160173b196463b6123d0f1a69f7ba0	Borrelia @PHENOTYPICFEATURE$ mimicking @DISEASE$ lymphoma.	false
+2fede992935b32a963b9c1e02bdc4c54c2ce7dae	Carcinomatous @PHENOTYPICFEATURE$ or @DISEASE$ carcinomatosis is seen in up to 5% of patients of metastatic non-small cell lung cancer.	false
+8d27cc95d49aa4f0e663aa6040ae0ae3bf493451	@DISEASE$ angiomatosis, arhinencephaly, @PHENOTYPICFEATURE$ and large hamartoma of the brain, with neoplasia, in an infant having bilateral nasal proboscis.	false
+6b9b2d5420a19c25cb96330019f02794515096af	Fatal worsening of late-onset @PHENOTYPICFEATURE$ with neuronal intranuclear inclusions due to superimposed @DISEASE$ Rosai-Dorfman disease.	false
+320a552898cfe5ebbab5aea76bee844217b134cd	Twenty-one (30%) presented with @DISEASE$ or @PHENOTYPICFEATURE$.	false
+a59d13219e3d2c090fa2b628b516914edbf43eea	After a further spinal anaesthesia, he suffered violent headaches, a @DISEASE$, restlessness, left hemiplegia and @PHENOTYPICFEATURE$.	false
+dc1819fe3525f137dba325f934fd89805cdbc253	Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-@DISEASE$-cleft lip or palate, @PHENOTYPICFEATURE$-ectodermal defects-cleft lip and palate, Clouston syndrome, Goltz syndrome, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls.	false
+055f76738c8d3ad4cb3225477640124849cf652f	Single amino acid substitutions and frameshift mutations of p63 cause the human @PHENOTYPICFEATURE$ ectodermal dysplasia clefting (AEC) or @DISEASE$ ectodermal dysplasia and facial clefting (EEC) syndromes.	false
+89d906220e342e2597afa9af596d14aef02c665f	p63 sterile-?-motif domain, AEC (@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting)-associated mutations are associated with a high prevalence of orofacial clefting disorders, which are less common in EEC (@DISEASE$-ectodermal dysplasia-clefting) patients with DNA binding domain p63 mutations.	false
+8306368b1bde993206fc81a308cdf4ec12076fd7	@PHENOTYPICFEATURE$ of the tongue in an infant with a primary diagnosis of @DISEASE$-ectodermal dysplasia-cleft lip and palate syndrome.	false
+c6663dbe9ad7b7b5e097b5277f1b3b6130ac4449	Furthermore, we report the first ever derivation of a @DISEASE$ (46, XX) human stem cell line from embryos (HESC) carrying the IDS and oculocutaneus @PHENOTYPICFEATURE$ type 2 mutations.	false
+624bbbf55b2f2258c9078e58058ce759e5dfc58a	The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to @PHENOTYPICFEATURE$, 3 cases due to chronic otitis media, 3 cases due to @DISEASE$, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to tumor.	false
+c881e9b7ec3923ccdde0427b9b0daf5b37c612c9	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and Lambert-Eaton syndrome.	false
+a65c74147b883294bc29bf94e6347e1a0cdd5d1d	Nephronophthisis can also be associated with conditions affecting extrarenal organs, such as retinitis pigmentosa (Senior-L?ken syndrome) and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+9bc5459dfe9933025116d45799348ad9d84fbd40	@DISEASE$ is characterized by non syphilitic interstitial keratitis and Meniere's syndrome-like audiovestibular function disorder, as well as various systemic manifestations, including @PHENOTYPICFEATURE$, arthralgia, vasculitis, and aortitis.	false
+ad3f38fac6a0baa990768f92507604c8b048d8f9	The presence of a @DISEASE$, mental retardation, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+8d2b0d3387d6e13ecabc3e2b9a02997859c2f96f	We report on a child with an unusual @PHENOTYPICFEATURE$ bone dysplasia and @DISEASE$.	false
+73eed90d30c7e231a54c994cd44d6e9afb5aaa97	Xeroderma pigmentosum (XP), a @DISEASE$ characterized by @PHENOTYPICFEATURE$, premature aging, and increased skin cancer, is caused by defects in the nucleotide excision repair (NER) pathway.	false
+05df576ff5bfe4c065e68abeb300a83597af5616	Hereditary motor and sensory neuropathy type VI was first reported in 1879 by Vizioli, who described a kinship in which a father and two sons presented with @DISEASE$ in association with @PHENOTYPICFEATURE$.	false
+8c7f0e3f216d847b335926381f37e6ac6a7edb79	@DISEASE$: marked phenotypic variation of the Ser78Leu @PHENOTYPICFEATURE$ in five Italian families.	false
+e6bb6e47567c6e6db948b6948fdff08c06f376ca	[Familial ataxia with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+a2d8fdee33580b94b7fca769a6d13204f87d0baa	This report describes a unique case of @DISEASE$ manifesting with asymmetric craniofacial and axial @PHENOTYPICFEATURE$.	false
+da639ec7f66c941873fa2008f1d1de405444dd2b	Distinguishing features in these two patients as contrasted to previously described cases include a greater degree of @PHENOTYPICFEATURE$ and sclerosis than that described for other patients with @DISEASE$, apparent dominant transmission, and significant metaphyseal involvement.	false
+1b0b0d7d3839547caf9f2e202dffb7264fb57107	Other features in individual cases include cleft palate, micrognathia, anal atresia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0e5cc7a4580ccd8119af673ba1fc4c913de1f7ad	On the summit @DISEASE$ was less common in climbers receiving acetazolamide, and they experienced less headache, nausea, @PHENOTYPICFEATURE$, shortness of breath, and dizziness and a greater sense of satisfaction and psychological well-being.	false
+c03ecf6747f8ad005e5772bd5b0913d28abf4e4d	S?zary's syndrome: report of a case showing @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3d0535d2a7e43050f81895a53c33f25585530335	The most frequent prodromal symptoms experienced more than 1 month before @DISEASE$ were unusual fatigue (70.7%), @PHENOTYPICFEATURE$ (47.8%), and shortness of breath (42.1%).	false
+67c86ac1b8dd02eb077915c4bcfe93ef04b57acf	Cirrhotic patients admitted with altered mental @PHENOTYPICFEATURE$ (@DISEASE$) represent a clinical challenge, as many potentially life-threatening diseases must be considered.	false
+a92f1a82fb11cadab80094a700d2507de5b4f923	The authors reports two cases of @DISEASE$ with such a fibrous hematopoietic tumor, occurring in one patient as a pelvic mass and in another as lymphadenopathy and @PHENOTYPICFEATURE$.	false
+6fa29a6ae003df09930fb9abd3c7c8fe10341fd6	Understanding @PHENOTYPICFEATURE$ in African-@DISEASE$ breast cancer survivors: a pilot study.	false
+a8f219aeba100142c721d791b32db39ef4c9bf17	Therefore, these data provide novel therapeutic and mechanistic insights into stem cell biology, and @DISEASE$ transplantation may represent an alternative therapeutic option for treating @PHENOTYPICFEATURE$.	false
+5ee71051018441a2f1b63ed28b07c3c2ec86ea21	The unusual noteworthy features in this case are dermal sclerosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fa5dd63d1efe843cc06d3feb1c24d05cee69129d	The goals of this study were (i) to report the prevalence and nature of @PHENOTYPICFEATURE$, as determined by clinically significant insomnia symptoms, in a sample of African-@DISEASE$ breast cancer survivors; (ii) to assess the extent to which intrusive thoughts about breast cancer and fear of recurrence contributes to insomnia symptoms; and (iii) to assess the extent to which insomnia symptoms contribute to fatigue.	false
+72ce32cf8cdc7d2a6d96695cdcbcdd2e81f8dcdd	Symptoms of @DISEASE$ and @PHENOTYPICFEATURE$ were still seen on the first 2 days at HA, whatever the time of exposure to CIH.	false
+069292b64b0d7763d8ce47d64f034ba4b3d65a54	[Intercalary deletion of the short arm of chromosome 11: aniridia, glaucoma, staturoponderal and @PHENOTYPICFEATURE$, sexual ambiguity, gonadoblastoma and @DISEASE$].	false
+bbc902feb78786cef0eb3ce236905ab60b86176c	The effect of @DISEASE$ on renal tubulointerstitial injury induced by unilateral @PHENOTYPICFEATURE$ (UUO) has been studied in homozygous acatalasemic mutant mice (C3H/AnLCs(b)Cs(b)) compared with wild-type mice (C3H/AnLCs(a)Cs(a)).	false
+6b2b68977606194ff16de8f738a398477bd02a09	IRL-1620, an endothelin-B receptor agonist, enhanced radiation induced reduction in tumor volume in Dalton's @DISEASE$ @PHENOTYPICFEATURE$ tumor model.	false
+e1da67ed8331efa3138312375aed26986905d0da	A case of primary cerebral @DISEASE$ associated with @PHENOTYPICFEATURE$ is reported.	false
+6a22d0806b1450d91d1615e0bcbbe168ef7f3f68	CD44v10, osteopontin and @DISEASE$ @PHENOTYPICFEATURE$ by a CD44v10-specific antibody.	false
+cc2e10560982300866406fc06e9a74465dde6a61	@DISEASE$ of the central nervous system presenting with central neurogenic @PHENOTYPICFEATURE$.	false
+75d03efd6a9d6ee55c410965d2bc831b50bd063d	Vaccination with TLR2-L SLP conjugates leads to efficient induction of antitumor immunity in mice challenged with aggressive transplantable @PHENOTYPICFEATURE$ or @DISEASE$.	false
+d3eff3228f4f734aab1a1b67667d92d00e1fa03c	Antitumor and apoptosis promoting properties of atorvastatin, an inhibitor of HMG-CoA reductase, against Dalton's @DISEASE$ @PHENOTYPICFEATURE$ tumor in mice.	false
+ff7b0a05804985ac3c2ecc0b2964990a536d2948	[A case of primary @DISEASE$ of the brain associated with acute @PHENOTYPICFEATURE$].	false
+b56437a311d9ecba0640eaf3eee410c59629c61c	@PHENOTYPICFEATURE$ in childhood leukemia and @DISEASE$.	false
+593d1d9cbc83c139a7b90368479dc87b608c0d57	A patient with lymphomatoid granulomatosis and focal transformation to @DISEASE$ limited to the central nervous system presented with severe central neurogenic @PHENOTYPICFEATURE$.	false
+79ed0488b71df54120691427814c4f2b900b89fe	@DISEASE$ presenting as right @PHENOTYPICFEATURE$.	false
+513ab76e5682215890667fdea2a856fb54c66a84	Here, we report a 66-year-old woman with @DISEASE$ myeloma who had anemia, lumbago, multiple osteolytic lesions and @PHENOTYPICFEATURE$.	false
+fe70587107285b7d5654af87d29234ee88f48491	To further elucidate whether gonadal steroids and/or gonadotropins modulate melatonin secretion in humans we compared untreated young males with hypogonadotropic hypogonadism (@DISEASE$, n = 6), and @PHENOTYPICFEATURE$ caused by KlinEfelter's syndrome (KS, n = 11) to normal pubertal male controls (n = 7).	false
+9bb1f1cf9f090c5cd5202a2e1503dea8a4b6f2dd	Synthetic human GRF (hGRF (1-44) NH2; SM-8144) was administered as an iv bolus to 141 normal children of @PHENOTYPICFEATURE$ (NSC), 73 patients with severe idiopathic GH deficiency (@DISEASE$; group A), 30 patients with mild idiopathic GH deficiency (IGD; group B), 29 patients with secondary GH deficiency, 3 patients with primary hypothyroidism, 21 patients with Turner's syndrome and 25 patients with various other disease.	false
+33de0d54f0912a880b8dde163a5716c15efeb084	Synthetic human GRF (hGRF (1-44) NH2; SM-8144) was administered as an iv bolus to 141 normal children of @PHENOTYPICFEATURE$ (NSC), 73 patients with severe idiopathic GH deficiency (IGD; group A), 30 patients with mild idiopathic GH deficiency (@DISEASE$; group B), 29 patients with secondary GH deficiency, 3 patients with primary hypothyroidism, 21 patients with Turner's syndrome and 25 patients with various other disease.	false
+3314ed94d91ab726b924ee9e28dcb47b40de126b	Hyper @DISEASE$ and periodic fever syndrome (HIDS; OMIM 260920) is one of the hereditary autoinflammatory syndromes characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.. HIDS is an autosomal recessive disorder characterized by recurrent fever attacks in early childhood.	false
+3f5d09a2d32d411e148b71d91adef2c81608805d	There is a clinical overlap to hereditary periodic fever syndromes as familial Mediterranean fever (FMF), Hyper-@DISEASE$ and @PHENOTYPICFEATURE$ syndrome (HIDS), Tumor-necrosis factor receptor associated periodic syndrome (TRAPS) and others, in which a genetic basis for the disease has already been found.	false
+2335b6895f633716b774a537a73f1b4a63a8eb92	Hyper-@DISEASE$ and periodic fever syndrome (HIDS) is an autosomal recessively inherited disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+2c278942d0ce5b4751cc7356edc719a2495bcb07	The patients did not display many of the features described as typical for @DISEASE$ myeloma: in particular younger age group, decreased survival and increased incidence of lymphadenopathy, hepatosplenomegaly, extraosseous disease, anemia, renal failure and @PHENOTYPICFEATURE$.	false
+57a8686129286e92b807d547c0045dcddf0b8786	We found that IgD myeloma was associated with higher frequencies of anaemia, renal failure, and @PHENOTYPICFEATURE$ and higher levels of serum LDH compared with non-@DISEASE$ myeloma.	false
+10bff9f8d9de5f09564cee26bbb19f04d1bc8af9	We found that @DISEASE$ myeloma was associated with higher frequencies of anaemia, renal failure, and @PHENOTYPICFEATURE$ and higher levels of serum LDH compared with non-IgD myeloma.	false
+b7bd8bab28a15840df40d80b82d63192bf5fb248	Classical type hyper-immunoglobulin D (@DISEASE$) syndrome (HIDS) is an hereditary auto-inflammatory disorder, characterized by recurrent episodes of @PHENOTYPICFEATURE$, lymphadenopathy, abdominal distress and a high serum concentration of IgD.	false
+f70dfdda226b47a5a146ecc1c27ac77b1249778b	Ophthalmologic findings included markedly @PHENOTYPICFEATURE$, bull's eye maculopathy, foveal hyperpigmentation, peripapillary atrophy, dyschromatopsia, extinguished photopic responses, and reduced scotopic responses observed on electroretinography consistent with the @DISEASE$ phenotype often associated with ABCA4 mutations.	false
+c4887a011da862bc3397f517318cc40c2a17a1b2	Thus, @DISEASE$ should be considered in patients with @PHENOTYPICFEATURE$, color blindness, and photophobia even if they are older than 70 years.	false
+45a97242b3651882f3300548fd754458f8ac966d	Among these genes, FAM20A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia and nephrocalcinosis, while FAM20C mutations cause @DISEASE$, exhibiting bone and craniofacial/@PHENOTYPICFEATURE$.	false
+405db3181b2f7f09d0a7b1512c1233f029f3ff76	Despite medical therapy and improved wound healing, she died to @PHENOTYPICFEATURE$ that left her comatose, thought to be secondary to central nervous system advancement of her @DISEASE$.	false
+7796573ca83a25d69c43ee9d4b0c2a88e8713918	At 20 years old she suffered from disseminated intravascular coagulopathy (DIC) and hemophagocytic syndrome (@DISEASE$) with respiratory symptoms and repeated @PHENOTYPICFEATURE$.	false
+ec2c3d801513182bbeb0b7458cb8063c4b161716	Acrofacial dysostosis with growth and @PHENOTYPICFEATURE$ in three males, one with simultaneous @DISEASE$.	false
+19612c4a30ad8003ba5e957843dc4ec1e2c14e7e	This article reports a full-term infant with Hirschsprung disease (HD) who was diagnosed to have hypertrophic pyloric stenosis (@DISEASE$) and @PHENOTYPICFEATURE$ (ACC).	false
+640a1330d578cf2166bc91f0a5a05812df5f5e3f	A patient with an unusual series of uncommon sarcoidosis complications, including cirrhosis with @DISEASE$, brain abscess and finally Nocardia @PHENOTYPICFEATURE$, is reported.	false
+bf6cf86fd29720a9647db5c2b9906f09e322829f	Other genetic diseases are caused by partial dysfunction of multiple Rab proteins resulting from mutations in general regulators of Rab activity; Rab escort protein-1 (choroideremia), Rab geranylgeranyl transferase (@DISEASE$) and Rab GDP dissociation inhibitor-alpha (X-linked @PHENOTYPICFEATURE$).	false
+c945dc87570c1cd46f72aac1b08bff1c3e8cb41d	Cerebral hyperperfusion syndrome (@DISEASE$) results from autoregulatory failure of cerebral blood flow following carotid endarterectomy (CEA) or carotid artery stenting (CAS) and encompasses a range of neurological findings including headache, @PHENOTYPICFEATURE$, intracranial hemorrhage (ICH), altered mental status and focal neurological changes.	false
+ffc58fe568064c7ea0c62c734331a91c7e573a06	Hyperperfusion syndrome (@DISEASE$) is a neurological syndrome, which consists of a triad of unilateral headache, @PHENOTYPICFEATURE$ and focal neurological deficits.	false
+caa11da5984a87d063ba3f98b1f277414c8cc89a	Mutations in AP3D1 associated with immunodeficiency and @PHENOTYPICFEATURE$ define a new type of @DISEASE$.	false
+fd514de9eea9b8f75cf8bc75f7a87805988828dd	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+f5c28a0e4618b5bdd9a067d099d9e22a013c73bc	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+b50a761db647d364c8682653ee8302ab502347fc	We describe new syndrome-@PHENOTYPICFEATURE$ associations in several entities: cleidocranial dysostosis (Wilms tumor), Bardet-Biedl syndrome (BBS) (acute lymphoblastic leukemia), Kabuki syndrome (neuroblastoma), @DISEASE$ (neuroblastoma), Poland anomaly (osteosarcoma; Hodgkin disease), and blepharophimosis epicanthus inversus syndrome (Burkitt lymphoma).	false
+ba08e16600299b667317dc9ee91f4c55da7f398d	The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: (i) craniofacial dysmorphia; (ii) delayed growth; (iii) mental retardation or learning difficulties; (iv) cardiac malformations (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy); (v) cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid @PHENOTYPICFEATURE$ and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. NCFC subsumes neurofibromatosis type1, Legius syndrome, @DISEASE$, Noonan syndrome, Costello syndrome and (cardiofaciocutaneous CFC) syndrome.	false
+4d42ce66f3eb290302d04f92d11da632f1dc0cf5	Germline and somatic mutations in PTPN11 are involved in Noonan syndrome (NS), @DISEASE$ (LS), and hematological malignancies, as well as several solid @PHENOTYPICFEATURE$.	false
+bdbc52801df33c311d189e5cfd4d50cd0830f7a2	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [@DISEASE$ (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and @PHENOTYPICFEATURE$ predisposition.	false
+050e659e56abc134bb1e5da28760476c28793598	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called @DISEASE$; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and @PHENOTYPICFEATURE$ predisposition.	false
+8be6083c7fe75e6db8bfbc3b36191e8b687bdfcf	This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal @PHENOTYPICFEATURE$, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of @DISEASE$ (NSML) or RASopathy phenotype.	false
+d217aa6012aee03593ef70cc93c81ec3defb03d7	This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic @PHENOTYPICFEATURE$ and hypertrophic neuropathy may be a complication of @DISEASE$ (NSML) or RASopathy phenotype.	false
+afc766f505c65afaf426b8423b3dedf88aa96d26	Increased susceptibility to certain @PHENOTYPICFEATURE$, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, @DISEASE$ (NSML; formerly called LEOPARD syndrome), Costello syndrome, Cardiofaciocutaneous syndrome, Legius syndrome, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies.	false
+ec10afc3414df035a0e46a59a0089b679a4426df	Increased susceptibility to certain @PHENOTYPICFEATURE$, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, Noonan syndrome with multiple lentigines (NSML; formerly called @DISEASE$), Costello syndrome, Cardiofaciocutaneous syndrome, Legius syndrome, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies.	false
+9743f997684b75a8780f6d4c320c05f886cd3411	Treatment with @DISEASE$ reduced @PHENOTYPICFEATURE$ and hyperinsulinemia, especially at the dose of 200 mg/kg.	false
+0e461032a379a9a5d743e68e85725e688194b7d5	The aim of the study was to investigate psychosocial function in patients with @PHENOTYPICFEATURE$/hypopnea syndrome (OSAHS), before and after mandibular advancement splint (@DISEASE$) therapy.	false
+bd068284b945602d80d88810b7eafa395f72de85	@PHENOTYPICFEATURE$ in young broiler chicks due to poor nutrient metabolism, commonly known as malabsorption syndrome (@DISEASE$), is a widespread problem caused by enteric infections with a combination of pathogens mainly viruses.	false
+5cde4d5df36c3671561c221ac066e2b98a5d1a72	Macrophage activation syndrome (@DISEASE$) was present in 11.9%, @PHENOTYPICFEATURE$ in 11.3% patients.	false
+519462fc0855301bd6831da108e9185bc4a6365e	We report here the first case of a patient with an undiagnosed @DISEASE$ presenting with an acute @PHENOTYPICFEATURE$.	false
+06277c1685d2f59f27f75268482e6a907e98c02e	Various causes of malabsorption syndrome (@DISEASE$) are associated with intestinal stasis that may cause small intestinal bacterial @PHENOTYPICFEATURE$ (SIBO).	false
+89064bbcf60fa1693d0e2390fb30c7b99110bb3b	ECMO has been used to treat a variety of cardio-respiratory problems, including meconium aspiration syndrome (@DISEASE$), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis, and @PHENOTYPICFEATURE$.	false
+956e726092dba103e108223dbdde09705697b5c6	In patients with @DISEASE$, surgical treatment is first line recommendation to prevent complications such as hypertension, @PHENOTYPICFEATURE$, intracranial bleeding, or aortic rupture.	false
+6d6991c0eedf1e8c4208d07dffa3480b9a74a7b4	It is also often complicated with @PHENOTYPICFEATURE$, osteoporosis, and sometimes macrophage activation syndrome (@DISEASE$) develops, a potentially fatal disease.	false
+fdead5567e2a38b1c192a8ed6f636bbc2ace0669	Myopericarditis with signs of @PHENOTYPICFEATURE$ associated with @DISEASE$ is a rare clinical presentation of systemic juvenile idiopathic arthritis.	false
+ff45307c8aa5ebd4aed6e89437bc260b13b69684	Malabsorption syndrome (@DISEASE$) is an economically important disease of young, commercially reared broilers, characterized by @PHENOTYPICFEATURE$, defective feather development and diarrheic faeces.	false
+db52db203d480bb6f1cb465ee81ad93a54f61028	@DISEASE$: @PHENOTYPICFEATURE$ in the first Egyptian case who was conceived by intracytoplasmic sperm injection.	false
+106ff074edea4e7846270e7ac2011388cc63c51e	The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, @PHENOTYPICFEATURE$, and absence of enteric ganglia) and @DISEASE$ (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.	false
+a06082da44913f72ce0898d9ca97282b5c62b922	This report describes the first Egyptian patient of @DISEASE$ who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of @PHENOTYPICFEATURE$ among the congenital defects of the syndrome.	false
+e34ff81c44a57d97314a9291690b4e0d64cf71a4	Mutations in the coactivator CREB-binding protein (CBP) are a major cause of the human @PHENOTYPICFEATURE$ @DISEASE$ (RTS); however, the mechanism by which these mutations affect skeletal mineralization and patterning is unknown.	false
+2917ff620df45be7cc7d221c3fe18b1664bfd27f	Interestingly, concomitant @PHENOTYPICFEATURE$ was also observed in patients with @DISEASE$, a congenital disorder caused by germline mutations of CREBBP.	false
+c8ae24d75d7b53f99fc9ce5ef4e3937abbde0dbe	Anophthalmia with @PHENOTYPICFEATURE$ and micrognathia: a new syndrome or an unusual presentation of @DISEASE$?	false
+ddcfac7538c03b0f59702144fc2717d8288c07ed	Of the total 936 live borns, 1.3% (12) were noted to have birth anomalies: three ventricular septal defects, one choanal and one biliary atresia, one @DISEASE$, one Arnold-Chiari syndrome, one @PHENOTYPICFEATURE$, three clubfoot and one skin haemangioma.	false
+51c47535553863af3152bea3b09b96d061615a0a	@DISEASE$ 2 with @PHENOTYPICFEATURE$ and neural tube defect.	false
+d6bef9e156975e3493118883af83eca4e8c5c414	Clinical phenotypes of hereditary diffuse leukoencephalopathy with spheroids (@DISEASE$), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, @PHENOTYPICFEATURE$, and spasticity.	false
+7e87b0a5cabfb14e6dc4108d0fe1f3f5566a3932	Clinical phenotypes of @DISEASE$ (HDLS), a familial progressive neurodegenerative disorder affecting the white matter of the brain, are heterogenous and may include behavioral and personality changes, memory impairment, parkinsonism, @PHENOTYPICFEATURE$, and spasticity.	false
+a44a5421cae05e4d494be0fc7b2436108d035a49	This patient with @DISEASE$ was clinically characterized by @PHENOTYPICFEATURE$, rapidly progressive frontally predominant dementia and gait disturbance.	false
+8c9126fd5417aeec21b8af2df010e1a8750aa07b	Hereditary diffuse leukoencephalopathy with axonal spheroids (@DISEASE$) is an autosomal dominant disease clinically characterized by cognitive decline, personality changes, motor impairment, parkinsonism and @PHENOTYPICFEATURE$.	false
+b89d39fec9f17222ab0adc244be9742f779e30a3	Hereditary diffuse leukoencephalopathy with axonal spheroids (@DISEASE$) is a rare autosomal dominant disease caused by mutations in the colony stimulating factor 1 receptor (CSF1R) gene that often results in cognitive impairment, psychiatric disorders, motor dysfunction and @PHENOTYPICFEATURE$.	false
+a93b6602d1ecbc7116f2c0c75eb6672113d037b1	@DISEASE$ (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and @PHENOTYPICFEATURE$.	false
+37714339d8c223d2004f6b3f7c18df776a7fb8bb	@DISEASE$ (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, @PHENOTYPICFEATURE$ and other phenotypes.	false
+a0c76b9f515c09ca6cda4194711ba0bada5cc419	Hereditary diffuse leukoencephalopathy with spheroids (@DISEASE$) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, @PHENOTYPICFEATURE$ and other phenotypes.	false
+4bfb2cf1dd63a2a1a1f7a04de26ca748d0fa94e9	[A case of chronic enteroviral meningitis and @PHENOTYPICFEATURE$ associated with @DISEASE$].	false
+649c714774156c835bc45a2d1efdab1fa43583ea	Clinical symptoms include frontotemporal dementia, corticobasal syndrome, @DISEASE$, parkinsonism, pure akinesia with gait freezing and, rarely, motor neuron symptoms or @PHENOTYPICFEATURE$.	false
+e50c1cab6f16945c11e9e55b3eeb46d0db460316	@DISEASE$ is one of the rarest and is characterised clinically by the triad of periodic paralysis, cardiac dysrhythmias and @PHENOTYPICFEATURE$.	false
+c6dd1a3a772f38af463ea7e7645b28dc7af52011	Mutations of KCNJ2 encoding Kir2.1 underlie the @DISEASE$, a rare disorder clinically characterized by periodic paralysis, cardiac arrhythmia and @PHENOTYPICFEATURE$.	false
+29fce9ff40c9a73d1d275857230dcab4c6eee282	@DISEASE$ is a disease with variable expression and is characterized by a pattern of abnormal prenatal development characterized by @PHENOTYPICFEATURE$, polydactyly and severe birth defects (heart, brain) that generate an increased in utero and perinatal mortality.	false
+611e32a8f9df444081ee9e97e7d43d913ff2be0d	The possibility of @DISEASE$ should be considered in patients with @PHENOTYPICFEATURE$ and intellectual disability.	false
+6f98555c0f2469e014559d33b15e4c82bad1118e	The possibility of @DISEASE$ should be considered in patients with seizures and @PHENOTYPICFEATURE$.	false
+4dc05d6d25f1a848722c4ac8de67e051b29c095f	Both children presented with early-onset refractory @PHENOTYPICFEATURE$, hypotonia, and profound global developmental delay, reminiscent of other @DISEASE$ phenotypes.	false
+5aabc9e64633769640145b863450b58751eeb846	Both mevalonic aciduria, characterized by psychomotor retardation, @PHENOTYPICFEATURE$, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-@DISEASE$) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase.	false
+a47a033f5f83a40bd810023925a2e0147893939c	Recently, many cases of inherited GPI deficiency(@DISEASE$) are found among individuals with intellectual disability and intractable @PHENOTYPICFEATURE$.	false
+cd19d91b49f4d91826c266c7d647ec684df527d6	Recently, many cases of inherited GPI deficiency(@DISEASE$) are found among individuals with @PHENOTYPICFEATURE$ and intractable seizures.	false
+ea45e69705793af9606ee0857d66b99b3be61a73	@DISEASE$ is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone abnormalities, hearing loss, synkinesia, eye movement abnormalities, poor balance due to @PHENOTYPICFEATURE$, etc.	false
+eeb6aec85807715a690110622e55eadd18fc270e	[@DISEASE$ (pancreatic insufficiency, neutropenia, @PHENOTYPICFEATURE$ and dwarfism)].	false
+1b28b4ed259e724707ba97cb3efbebfa093b7b48	@DISEASE$ (SDS) comprises of exocrine pancreatic dysfunction, various degree of pancytopenia, and @PHENOTYPICFEATURE$.	false
+7d4a6a31b7f917c08d699a7540a880aefe9dbfea	@DISEASE$ is a rare clinical condition consisting of exocrine pancreatic dysfunction, various degree of pancytopenia, and @PHENOTYPICFEATURE$.	false
+490abd5b0c66748474aa66edc6e77631424b9111	Both cases had neonatal skeletal manifestations that included platyspondyly, lacy iliac crests and severe @PHENOTYPICFEATURE$, and thus did not fall in the range of the known @DISEASE$ skeletal phenotype but resembled spondylometaphysial dysplasia (SMD) Sedaghatian type.	false
+82dd84cfef38728518d525f332178c806f77a5bc	Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+2755d863f60cd7ba89aa0e23b35899a52536b084	@DISEASE$ is an inherited autosomal recessive disease that appears as exocrine pancreatic insufficiency, neutropenia, impaired neutrophil chemotaxis, aplastic anemia, thrombocytopenia, @PHENOTYPICFEATURE$, and physical retardation.	false
+1151e3b8c58261a2691d6e4c533e098105ecaa59	It is concluded that susceptibility to fatal @PHENOTYPICFEATURE$ in @DISEASE$ may be associated with changes in intracellular Ca(2+) balance due to mutation and downregulation of chCASQ2.	false
+9197aa8a4cec192e946ba30435ac992ad2a42b62	The dwarfed persons have some radiological findings in keeping with @DISEASE$, but they are, in addition, of @PHENOTYPICFEATURE$ and have marked brachydactyly of their fingers and toes.	false
+a8f64de30d0301519e78e1819df10dd6a8e9e0ba	[Castleman's @DISEASE$ (angiomatoid lymph node @PHENOTYPICFEATURE$) (author's transl)].	false
+82f4530833701f7d1f03c6bbb931f5c69c519b53	It appears that the peritumoral lymphoplasmacellular infiltrates, which in these instances may be regarded as reactive rather than primary cell proliferations, nevertheless brought about the type of systemic manifestations known as the Castleman syndrome, characteristically seen in patients with angiofollicular lymphoid hyperplasia (@PHENOTYPICFEATURE$) of soft tissues, or @DISEASE$.	false
+0b4c1baf28189710dcc3064926e440836c15ab77	It appears that the peritumoral lymphoplasmacellular infiltrates, which in these instances may be regarded as reactive rather than primary cell proliferations, nevertheless brought about the type of systemic manifestations known as the Castleman syndrome, characteristically seen in patients with @DISEASE$ (@PHENOTYPICFEATURE$) of soft tissues, or Castleman's tumor.	false
+ede00a375983df03f4e960cad36c5f6807df11aa	It is also known as "@DISEASE$", "lymph node @PHENOTYPICFEATURE$", "angiofollicular mediastinal lymph node hyperplasia", and "angiomatous lymphoid hyperplasia".	false
+6ab9f36dfe88a0ef349a4678f55d402346fd99aa	As the development of lymphoproliferative disorders is especially common within the HIV population, and @PHENOTYPICFEATURE$ in @DISEASE$ is particularly common, clinicians should be aware of this phenomenon when the laboratory findings do not fit the clinical picture.	false
+7a500a02f5bc5a4f6ac68d13a3f3d39844a310d1	A number of terms have been applied to the lesion, namely, inflammatory pseudotumor, fibrous xanthoma, plasma cell granuloma, pseudosarcoma, @DISEASE$, myxoid @PHENOTYPICFEATURE$, inflammatory myofibrohistiocytic proliferation, benign myofibroblatoma, and most recently, inflammatory myofibroblastic tumor.	false
+bc8d0ec687f7e081a8009bbf4ce52fff6cb438aa	To study the frequency and severity of @PHENOTYPICFEATURE$ in multiple system atrophy (MSA), we performed nerve conduction studies in 42 @DISEASE$ patients suffering from either cerebellar MSA (MSA-C) or parkinsonian MSA (MSA-P).	false
+40f1166e25b58495847284bb8291ddc05b281f57	We report the case of a 10-year-old girl who consulted for @PHENOTYPICFEATURE$, being diagnosed with @DISEASE$.	false
+cd4a3ed5d97ead0984897bbda0afe30babb59144	Results @PHENOTYPICFEATURE$ was present in 14 patients (41.17%) and M?llerian duct anomalies (MDAs) were present in 20 (58.83%) (Mayer-Rokitansky-Kuster-Hauser [MRKH] syndrome in 13 [65%], distal vaginal obstruction [DVO] findings in five [25%], and @DISEASE$ [OHVIRA] syndrome in two [10%]).	false
+b0ccba009acc7e13148c55a454553faaf070dfef	Between 1974 and 1992, 447 patients with @DISEASE$ were treated, seven of whom had associated severe @PHENOTYPICFEATURE$.	false
+18ec4c69e3eadb8fed5f6065f37156f85125ad41	Idiopathic epilepsies with @PHENOTYPICFEATURE$ precipitated by fever and @DISEASE$1A abnormalities.	false
+3c0b35d461d3d25d9aaf3fc044eb392c11ee539c	Genetic diseases caused by loss-of-function mutations in aquaporins include @DISEASE$ and @PHENOTYPICFEATURE$, and functionally significant aquaporin polymorphisms are beginning to be explored.	false
+997142754ad3e90fd179b10fcd02877f34213388	Optic atrophy was present in all, @PHENOTYPICFEATURE$ in 4/7, central diabetes insipidus in 4/7 and @DISEASE$ in 2/7 subjects.	false
+6b8ae1923288cc8a54be242f28936cb40ee47562	AQPs have recently been implicated in various diseases such as cancer, @PHENOTYPICFEATURE$, brain oedema, gallstone disease and @DISEASE$, as well as in the development of obesity and polycystic kidney disease.	false
+6aaa34ceffe1ea5ae3ac2c5903338cd523a4b144	Bilateral @PHENOTYPICFEATURE$ with @DISEASE$ and dental anomalies--a new association.	false
+873f6b2064924a84044d3777fe3846bf1b29345e	The present report describes a case of @DISEASE$ with @PHENOTYPICFEATURE$, facial and cerebral hemiatrophy and oligophrenia.	false
+742cfb347efa64c09cc1b3dd70e0107d392206e9	Thirty-seven children (59 eyes) underwent surgery (27 eyes had @DISEASE$; 23 eyes had essential dislocation; and 9 eyes had a diagnosis of homocystinuria, aniridia, @PHENOTYPICFEATURE$, or Weill-Marchesani syndrome).	false
+b34fc0e7d847c2fb47734ec1c4a3b146a79965b8	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and @DISEASE$, including cleft palate, bifid uvula, skeletal overgrowth, cervical spine instability and @PHENOTYPICFEATURE$ deformity.	false
+914743d1750dad8b19a4b4bf1e4ce4991014e900	A unique association of @DISEASE$ with craniofacial hypoplasia, oligophrenia and severe @PHENOTYPICFEATURE$.	false
+a3a7d6ede58fccc0d59fb65df1107823dad6eb4f	Genetic counseling that addresses patients' perceptions of @DISEASE$, and its associated @PHENOTYPICFEATURE$, fatigue, and depressive symptoms, may enhance patient adaptation to the condition.	false
+cf2b178fd06854d56af501d6acb2e22a23c3300c	Cases of osteogenic sarcoma, @PHENOTYPICFEATURE$, and @DISEASE$ were also discovered among relatives.	false
+52d3d53ce632a3b0f48e16bcbdfe899509bee363	We report a rare case of @DISEASE$ presenting with alternating @PHENOTYPICFEATURE$, paresthesia, and ataxia after a respiratory infection.	false
+ae43780f1bc059a676a1521b5377672779feaa3e	The unusual case of @DISEASE$ in the current study started with a bilateral areflexical mydriasis and a slight failure of accommodative-convergence. @PHENOTYPICFEATURE$ developed progressively with a palsy of the upward gaze and a bilateral internuclear ophthalmoplegia to a complete ophthalmoplegia.	false
+b163e80ab02093aa53d8102f48e93fe5ca201c85	Patients with the features of @DISEASE$ (even without major diagnostic criteria) have a high incidence of progressive scoliosis, protrusio acetabuli, and @PHENOTYPICFEATURE$.	false
+526df194c3dba8aa11bb1f0acf3c91b0e7f5b633	In addition, fibrous dysplasia may be associated with single or multiple endocrinopathies, or with precocious puberty and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ef0f7f58341c4922e3da15ef44f097adf089eb6b	Fibrous dysplasia (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait @PHENOTYPICFEATURE$ and one or more hyperfunctioning endocrinopathies (@DISEASE$ [MAS]).	false
+80478d6e9a9628a12d0cea86674d9598cb53ca4a	Fibrous dysplasia (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait @PHENOTYPICFEATURE$ and one or more hyperfunctioning endocrinopathies (McCune-Albright syndrome [@DISEASE$]).	false
+0bda1d3da447d2f13a97a6099ece7d514baf643f	BFD may be isolated, or in association with @PHENOTYPICFEATURE$ and/or hyperfunctioning endocrinopathies, termed @DISEASE$ (MAS).	false
+fddff2fe41a846adec6c5ae20baf03ea356f50e9	BFD may be isolated, or in association with @PHENOTYPICFEATURE$ and/or hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (@DISEASE$).	false
+43ddc876457569675c662f7f1f1c062775c66cf7	McCune-Albright syndrome (@DISEASE$) is a genetic disorder characterized by the triad of fibrous dysplasia, @PHENOTYPICFEATURE$, and autonomous hyperfunction of various endocrine organs.	false
+27ce5767445e78750c3c6ce7ac47167f84048711	@DISEASE$ (MAS) is a genetic disorder characterized by the triad of fibrous dysplasia, @PHENOTYPICFEATURE$, and autonomous hyperfunction of various endocrine organs.	false
+473c7944a0a8b8888884dda5d2ee1df04e9e3230	Two cases of McCune-Albright syndrome (@DISEASE$) are reported who presented in the neonatal period with profound @PHENOTYPICFEATURE$, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy.	false
+e98cf0721e4655a0d4bc3121e22e6fc0937a83be	Two cases of @DISEASE$ (MAS) are reported who presented in the neonatal period with profound @PHENOTYPICFEATURE$, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy.	false
+cc0d7a912a5fe46e7f2f9ae13a65af3f32c3b26f	In @DISEASE$ (MAS), subjects show autonomous endocrine hyperfunction associated with fibrous dysplasia of bone and @PHENOTYPICFEATURE$.	false
+efcbf3892da3a3a1042962470ae25006bc28302f	In McCune-Albright syndrome (@DISEASE$), subjects show autonomous endocrine hyperfunction associated with fibrous dysplasia of bone and @PHENOTYPICFEATURE$.	false
+4f493f25506a5877a1407242211945e96051d386	The classical triad of @DISEASE$ (MAS) consists of polyostotic fibrous dysplasia (FD), @PHENOTYPICFEATURE$ (caf?-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty.	false
+25ef124a53276a8487ca59ba05db448286a86049	The classical triad of McCune-Albright syndrome (@DISEASE$) consists of polyostotic fibrous dysplasia (FD), @PHENOTYPICFEATURE$ (caf?-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty.	false
+e3fb76eccf89c6900e01182055ad9dc7a9d6e7ce	The severe form of @PHENOTYPICFEATURE$, the 'shepherd's crook deformity', is always a consequence of a locally extensive form of polyostotic fibrous dysplasia (or @DISEASE$).	false
+8f16e59e7f20f3999188ff13e84002897ed42bd0	[@DISEASE$ ovarian @PHENOTYPICFEATURE$].	false
+b4e6dda30632ad1adb79fe8cb210df558edd3fcb	It is called @DISEASE$ when associated with @PHENOTYPICFEATURE$ and endocrinological disorders.	false
+7d74d34826e2aaa03310742aad53035a8335e13b	The proband presented with peculiar clinical features (severe craniofacial dysmorphism, alopecia universalis, severe scoliosis, mitral valve prolapse, mild @PHENOTYPICFEATURE$ and normal growth parameters) that partially overlap with @DISEASE$ I. Mutational and array CGH analyses ruled out any genetic defect affecting TRPS1 or genomic alteration at the translocation breakpoint or elsewhere in the genome.	false
+a387bd8859070340a82c99ea7a13f2261f7727e9	A deletion mutant of ATP6AP2/PRR, which lacks exon 4-encoded amino acids inside the ECD (?4M) and causes X-linked @PHENOTYPICFEATURE$ Hedera type (MRXSH) and X-linked parkinsonism with spasticity (@DISEASE$) in humans, was defective as a V-ATPase-associated protein.	false
+0663ac7a4ecb65bdff3cd573f19e523be33b5588	Three patients with recurrent @DISEASE$ died of profound hypercalcemia, renal failure, or @PHENOTYPICFEATURE$.	false
+1cc8fd98f317e1ccc904bb46b64135e821dde6f5	@DISEASE$ (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, ?-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and @PHENOTYPICFEATURE$.	false
+e75154412fb24b30c0a629579fa5a06c0119a616	Children with @DISEASE$ I (MPS I) develop hyperintense white matter foci on T2-weighted brain magnetic resonance (MR) imaging that are associated clinically with @PHENOTYPICFEATURE$.	false
+03afff9d26230b1cac7539738861e123cce3758f	The importance of MRAP in adrenal gland physiology is demonstrated by the clinical condition @DISEASE$ type 2. The role of its paralog melanocortin-2-receptor accessory protein 2 (MRAP2), which is predominantly expressed in the hypothalamus including the paraventricular nucleus, has recently been linked to mammalian @PHENOTYPICFEATURE$.	false
+1718ded8b66d411a469fa35e6d6d089cdd951e6e	NNT variations have recently been reported in patients with @DISEASE$ (FGD) and in patients with @PHENOTYPICFEATURE$.	false
+c1aabe0f43aec84be0fb8b7dd254e0ee1ce90917	Developmental delay, intellectual impairment, @PHENOTYPICFEATURE$ problems, and neuropsychiatric disorders occur commonly in individuals with @DISEASE$ and may be associated with poorly controlled epilepsy.	false
+31811ba17d0a285b4182778c487398c067164256	Tuberous sclerosis complex (@DISEASE$) is a disease featuring devastating and therapeutically challenging @PHENOTYPICFEATURE$.	false
+7034835ecf5ee3a373fe5add09583bc6631a8298	Of these epileptic children, there were 7 children (35%) with associated @PHENOTYPICFEATURE$ and/or mental retardation, including one with @DISEASE$.	false
+36391600bebe27816e65418b2a9aa0fd44679e1c	@PHENOTYPICFEATURE$ and obstetric complications in children and adolescents with @DISEASE$.	false
+c5a7c93bdcc6033ea392d464f56d0378f03acf7f	Autism and @PHENOTYPICFEATURE$ (PDD) are common in @DISEASE$ (TSC).	false
+a6476412f4d26ddf42f37da17bc2feffeeabcaaa	This study provides Class I evidence that for children with @DISEASE$, everolimus does not improve intellectual disability, @PHENOTYPICFEATURE$ problems, or other neuropsychological deficits.	false
+e7768af77acad441ef53e27d5d3d3f49280db2c7	Here, we report a case study of a Korean patient with @DISEASE$, who exhibited multiple symptoms including frequent seizures, intellectual disability, @PHENOTYPICFEATURE$, and social problems.	false
+019c1aa597915969eeaff80def3a91c89c4cfd46	Persons affected with tuberous sclerosis complex (@DISEASE$) develop a wide range of @PHENOTYPICFEATURE$ including aberrant neuronal migration and seizures.	false
+350d74dbb8db35a9e7e539af5467433987449fbc	The case of a child with a @PHENOTYPICFEATURE$ secondary to @DISEASE$ is presented.	false
+fa014b97b3f43a6444c1c302d5f0742c193db47a	Though a diagnosis of neonatal @DISEASE$ was made, the association of @PHENOTYPICFEATURE$ and intestinal obstruction was a rare and unusual finding.	false
+25c83a7754aa718e07299198d0152eecf2da6999	To our knowledge, this is the first time polymyoclonus and @PHENOTYPICFEATURE$ have been reported in association with @DISEASE$.	false
+643f5d88decc38bff133dfff6fb5784d7df79a6f	Baclofen in the treatment of polymyoclonus and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+755848f9f1d6d0df00b694f5caea9a159ffe2414	We describe the case of a 30-year-old patient with @DISEASE$ who was treated with pyridoxine 1250-1750?mg/day for 20 years and developed progressive sensory neuropathy with @PHENOTYPICFEATURE$ and impaired sensation in the extremities.	false
+54c38da346c9abccb18a0c1af645cea7981d9f70	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, myoclonus epilepsy, Wilson's disease, galaktokinase deficiency, @DISEASE$, recessive myotonia and @PHENOTYPICFEATURE$- teleangiectasia (increased cancer risk).	false
+2390c2a60db3f805255230f9ea17dd09739f9fdd	Different MTHFR mutations lead either to severe @DISEASE$ as a multisystem disorder or to moderate hyperhomocysteinaemia, which is a common risk factor for disorders ranging from cardiovasculopathy to @PHENOTYPICFEATURE$.	false
+05071169a8057b03b000ab10bb9fe98ef589b666	@DISEASE$, also referred to as functional movement disorders, describe a group of disorders that includes tremor, dystonia, @PHENOTYPICFEATURE$, parkinsonism, speech and gait disturbances, and other movement disorders that are incongruent with patterns of pathophysiologic (organic) disease.	false
+1786dfe5c0ad6ec86eae89d1b10199a1dfa0d275	It should be differentiated from conditions such as @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine.	false
+7337fa90452db68df599fc8806efd509f1f3cf1b	Four patients required transplantation due to primary sclerosing cholangitis, one due to @DISEASE$, and one due to @PHENOTYPICFEATURE$.	false
+c74b7db0a846e0a210a1671d0a096eb7fed62654	The serum levels of vitamins A, D and E were higher in reference group than in patients with @PHENOTYPICFEATURE$ and @DISEASE$ together or separately.	false
+8470240a449debdfc39a0234a7d35276badfb629	When separated the @DISEASE$, nonbiliary atresia patients (all patients except the patients with biliary atresia), and @PHENOTYPICFEATURE$ groups the findings in the univariate analysis were the presence of esophageal varices of medium or larger caliber, presence of red spots on varices, and presence of gastric varices in the autoimmune hepatitis patients and nonbiliary atresia patients and presence of red spots on esophageal varices, presence of gastric varices, and Child-Pugh classification B or C in biliary atresia group (P?<?0.05).	false
+1bebf14bd2898db3972e84632b6d85b74358173f	When separated the @DISEASE$, nonbiliary atresia patients (all patients except the patients with @PHENOTYPICFEATURE$), and biliary atresia groups the findings in the univariate analysis were the presence of esophageal varices of medium or larger caliber, presence of red spots on varices, and presence of gastric varices in the autoimmune hepatitis patients and nonbiliary atresia patients and presence of red spots on esophageal varices, presence of gastric varices, and Child-Pugh classification B or C in biliary atresia group (P?<?0.05).	false
+65b4e4042422ea1e04e359beab2a237f7334c561	When separated the autoimmune hepatitis, nonbiliary atresia patients (all patients except the patients with biliary atresia), and @PHENOTYPICFEATURE$ groups the findings in the univariate analysis were the presence of esophageal varices of medium or larger caliber, presence of red spots on varices, and presence of gastric varices in the @DISEASE$ patients and nonbiliary atresia patients and presence of red spots on esophageal varices, presence of gastric varices, and Child-Pugh classification B or C in biliary atresia group (P?<?0.05).	false
+d06435a484761a80a924686f69816b3ced025feb	When separated the autoimmune hepatitis, nonbiliary atresia patients (all patients except the patients with @PHENOTYPICFEATURE$), and biliary atresia groups the findings in the univariate analysis were the presence of esophageal varices of medium or larger caliber, presence of red spots on varices, and presence of gastric varices in the @DISEASE$ patients and nonbiliary atresia patients and presence of red spots on esophageal varices, presence of gastric varices, and Child-Pugh classification B or C in biliary atresia group (P?<?0.05).	false
+ce7be9f10b2dc4d80f3678857bbc42b508ff08ac	In children, portal hypertension may be caused by a wide range of etiologies, including extrahepatic portal vein obstruction, @PHENOTYPICFEATURE$, alpha 1 antitrypsin deficiency, and @DISEASE$.	false
+abaa51ba9773f9a5b152883b50b793eb96e848b1	The patients with @PHENOTYPICFEATURE$ and @DISEASE$ presented lower serum levels of vitamins A, D and E that in control group.	false
+090d1806411de2ff11d21ef60cc54a14ab3ccd54	There is a directly proportional correlation between vitamin serum levels, mainly vitamin E, and all anthropometric variables of @PHENOTYPICFEATURE$ and @DISEASE$ groups.	false
+20244bcd946382d3b31e356f376f590cbd667b85	This controlled transverse study, evaluated the patients with @DISEASE$ and @PHENOTYPICFEATURE$ and a reference group paired by sex and age.	false
+c44cee68adeb7f6d138078c00a071655f7fae430	Nutritional status of patients with @PHENOTYPICFEATURE$ and @DISEASE$ related to serum levels of vitamins A, D and E.	false
+e42de9f4b6b46c49221e3fcc44fd7ed6cd67d743	Several mouse models of inflammatory cholangiopathies exist, including @PHENOTYPICFEATURE$, primary biliary cirrhosis, @DISEASE$, and primary sclerosing cholangitis.	false
+9e582faf476b447e72fe4ee9943d8097813825a6	Chronic liver failure was mostly caused by @PHENOTYPICFEATURE$ (30%), @DISEASE$ (25%) and Wilson's disease (21%).	false
+3ee28ec207aeaa51b56caa2893f76b7352a1f21a	Aortic valve replacement was successfully performed in a patient with severe thrombocytopenia associated with @DISEASE$, interstitial @PHENOTYPICFEATURE$ and scleroderma.	false
+2d504fafefe37ebcc53cfbea390cc38a6e78f25a	Subjective cognitive complaint (SCC) is a criterion recommended by the Movement Disorder Society (@DISEASE$) task force for the diagnosis of mild @PHENOTYPICFEATURE$ (MCI).	false
+e3ab9972c767939af744b642a341de380ce14328	Patients with AML/@DISEASE$ are highly symptomatic and experience @PHENOTYPICFEATURE$ and fatigue before the initiation of their treatment.	false
+6410588c5fb495a6a5b49274ff6c62153ec13a8d	@PHENOTYPICFEATURE$ in multiple system atrophy: a position statement by the Neuropsychology Task Force of the @DISEASE$ Multiple System Atrophy (MODIMSA) study group.	false
+af6c19d8a1cc52c79df615c5f1cf77cf97247721	An 82-year old, elderly woman who had been found to have myelodysplastic syndrome (@DISEASE$)-refractory anemia three years previously, complained of fever and @PHENOTYPICFEATURE$, and was hospitalized.	false
+50fec75529b8f2cf077b4eff913d4542bb15efb4	An 82-year old, elderly woman who had been found to have @DISEASE$ (MDS)-refractory anemia three years previously, complained of fever and @PHENOTYPICFEATURE$, and was hospitalized.	false
+1b16523234158032c3df0e46a9f6fe9a048f28c6	Myelodysplastic syndrome (@DISEASE$) is a group of @PHENOTYPICFEATURE$ disorders caused by ineffective hematopoiesis and characterized by bone marrow dysplasia and cytopenia.	false
+f3be721c31beb79d962b0b9596292c07d7a0ae51	@DISEASE$ (MDS) is a group of @PHENOTYPICFEATURE$ disorders caused by ineffective hematopoiesis and characterized by bone marrow dysplasia and cytopenia.	false
+105c0b42933fa42f6d944a34e8613d5bfe9ada9e	@PHENOTYPICFEATURE$, fatigue, and cytokine levels in patients with acute myelogenous leukemia or @DISEASE$.	false
+c5f379cc244ca5cd99bbb75fbd4cfa6e9ccb182f	The patient was a 79-year-old man with @DISEASE$, who presented with fever, @PHENOTYPICFEATURE$, and constipation.	false
+099a33992e480abd11660e1618f8664f45297d78	We encountered a 73-year-old man with @DISEASE$ who presented with fever, diarrhea, and @PHENOTYPICFEATURE$.	false
+d9655331971e76df39cb058ababdfebb07aea882	A 69-year-old man with acute myeloid leukaemic transformation of @DISEASE$ developed mucositis, nausea, @PHENOTYPICFEATURE$ and diarrhoea as complications of chemotherapy.	false
+2a75d34d6d128cdcfd985ebef84b8787466ab0e6	In a series of prevalence and follow-up studies on North Dakota's 59 children with @PHENOTYPICFEATURE$, the patient characteristics of @DISEASE$, Tourette disorder (TD), and the absence of seizures were found to be associated with improved outcome or higher IQ.	false
+5e4e054273a84dee8ae94d16348423c678519379	@DISEASE$: a marker for improvement in children with @PHENOTYPICFEATURE$?	false
+9f370174cbf3fabcb991f26536b048aa0238af80	Inquiry into the incidence of @DISEASE$ in a statewide population of children with @PHENOTYPICFEATURE$.	false
+ed243ace47474c70a3829342c3c45e7b639dc226	Familial @PHENOTYPICFEATURE$, Tourette disorder and @DISEASE$.	false
+77652f736a74deb7e6d2dc17240d37ce27674dea	For the first time, we described the typical @PHENOTYPICFEATURE$ phenotype in @DISEASE$.	false
+089bd2e8cace1ecdff57534f434627b9031e4bf2	@DISEASE$: report of a case with @PHENOTYPICFEATURE$, distally placed thumbs and vertebral anomalies.	false
+8f131368385ce9ed11df2981238ddda89cca4108	While RP and sensory ataxia due to vitamin E deficiency are well-recognized features of @DISEASE$, @PHENOTYPICFEATURE$ is rarely described.	false
+a2e0d558d3e37f9546bc09909057f46822e903b4	The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined hyperlipidemia, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, @DISEASE$, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, @PHENOTYPICFEATURE$, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs.	false
+58d0e2da62232cf43f44258386198e69c3924475	Examples of the first category include ataxia with isolated vitamin E deficiency, @DISEASE$, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+523f83a90a0ea92b7b0d2d8496612147024c34c7	Hypophosphatemic osteomalacia, a familial or @DISEASE$ acquired disorder, is characterized biochemically by @PHENOTYPICFEATURE$, decreased renal tubular reabsorption of phosphate, decreased intestinal absorption of calcium, and normal serum calcium.	false
+af7f790ee19dc9f153a3972acc563293f13c40b0	@PHENOTYPICFEATURE$ osteomalacia, a familial or @DISEASE$ acquired disorder, is characterized biochemically by hypophosphatemia, decreased renal tubular reabsorption of phosphate, decreased intestinal absorption of calcium, and normal serum calcium.	false
+ffefdb8c7b087d0654e8870c02bb875811927cdf	Melorheostosis is a @DISEASE$ bone disease characterized by linear @PHENOTYPICFEATURE$ and associated soft tissue abnormalities.	false
+ab419ab564e0b6bc9f916073a38f835cf5216ad3	Neuromuscular @PHENOTYPICFEATURE$ is a very @DISEASE$ soft tissue tumor, of which only 20 cases have been reported previously.	false
+de58e59386213a3ac2de96f4f4b0ccb08dda5a44	Meningioangiomatosis is @DISEASE$ disease and is classified as @PHENOTYPICFEATURE$ in central neurofibromatosis.	false
+1b4631ae11f9a87e3fa1431cf2e747f8a8b99d39	Sclerosteosis is a @DISEASE$ bone disorder characterized by a progressive craniotubular @PHENOTYPICFEATURE$.	false
+50c1afdc5328139c83b14b1e4761249979541fa6	"Serpentine-like syndrome"-A very @DISEASE$ multiple malformation syndrome characterised by brachioesophagus and @PHENOTYPICFEATURE$.	false
+622faf3737a9ef7ce303909eff509c3a94547f9e	@PHENOTYPICFEATURE$ with aneurysmal dilatation of hepatic artery: A @DISEASE$ anomaly.	false
+c7d17fcb99503d19148fe1497d2b11f66f10fd88	Hyperostosis Cranialis Interna (HCI) is a @DISEASE$ bone disorder characterized by progressive intracranial @PHENOTYPICFEATURE$ at the skull.	false
+c04e50223647c7471002e28ce411c2e435d9e5bb	SAPHO, a @DISEASE$ syndrome, is a recently suggested acronym for synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis.	false
+644ef4cc6512eedcf777ee54813a303f01a264be	@PHENOTYPICFEATURE$ - a @DISEASE$ benign tumor of the spleen: a report of four cases.	false
+2bfbc2ccd5f893bf1c23f9e07497690ce56d2903	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including @DISEASE$ and Gaucher disease type IIIC.	false
+1dd9251db86876eafd96c27a79b13c3b4328e369	Therefore, @DISEASE$ may be associated with Kallmann's syndrome (KS), mental retardation, X-linked recessive chondrodysplasia punctata and @PHENOTYPICFEATURE$.	false
+5d5180646ffe2fa9110f6842d692ccb4761bb06d	A novel missense mutation of the STS gene in two siblings with @DISEASE$, complicated by @PHENOTYPICFEATURE$, bone density reduction, epilepsy, and cryptorchidism.	false
+83eb90dedd37aa1e8b305107a94363ed14c911ff	None of the @DISEASE$ patients showed STS activity (pmol/mg protein/h), four mothers had an activity compatible with a carrier state (0.19 +/- 0.02 vs 0.66 +/- 0.14 males or 0.90 +/- 0.30 females pmol/mg protein/h, p < 0.001) and only one mother showed a normal pattern, indicating that her son had a de novo @PHENOTYPICFEATURE$.	false
+755f2cb4ee3b09cb389b2d74bd02489c2dd4009a	Steroid sulfatase (STS)-deficient @DISEASE$ was diagnosed in a man with @PHENOTYPICFEATURE$ and mental retardation.	false
+b9f90db2e7d62786559994877e8292c4ddceb53a	Deletion of the distal short arm of the X chromosome (Xp) in a patient with @PHENOTYPICFEATURE$, chondrodysplasia punctata, and @DISEASE$ due to steroid sulfatase deficiency.	false
+f6734affb71ae41f65cf892c365cc20ec3976715	Deletion of the distal short arm of the X chromosome (Xp) in a patient with @PHENOTYPICFEATURE$, chondrodysplasia punctata, and X-linked ichthyosis due to @DISEASE$.	false
+3862de91503766d201017d99a7be12610d17ce75	Meiotic studies were undertaken in a 24-year-old male patient with @PHENOTYPICFEATURE$, chondrodysplasia punctata, ichthyosis, @DISEASE$, and mild mental retardation with an inherited cytologically visible deletion of distal Xp.	false
+d8d7b6e38904ea35a99327e5aab5e086178c2c57	@PHENOTYPICFEATURE$, chondrodysplasia punctata, mental retardation, @DISEASE$, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome.	false
+8d1526ac56602cf6ba27482d8a09c9492fb3b8b0	The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as @PHENOTYPICFEATURE$ (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (@DISEASE$), and Kallmann syndrome (KAL).	false
+b745fe153efcf10dca7e4d22aba6ba4ebc8e5184	The present study describes the case of a patient with @DISEASE$ (HSVE) who develops a second episode of @PHENOTYPICFEATURE$, which is in fact NMDAR encephalitis.(1.)	false
+94b2fa1efcba75618ed9b36d12030d994e62909b	A newborn male presenting with a peculiar appearance, hypertonia, a flexum attitude, @DISEASE$ and @PHENOTYPICFEATURE$ was found to bear a r 9 chromosome.	false
+e4c5adfddabf656840906965754e0529d5054ad4	The proband had severe penoscrotal @DISEASE$, mild @PHENOTYPICFEATURE$ of the hands and feet, cardiac, renal, and gastrointestinal anomalies.	false
+30bcfabea8ec022174ee8976884a99ba1b3e3a10	Of the 166 Deciphering Developmental Disorders participants with @DISEASE$ and @PHENOTYPICFEATURE$, 47 (28%) had cardiovascular and 40 (24%) had structural brain abnormalities.	false
+da46836bb68d38e3059499e71e221b0da5657bb5	The rate of cardiovascular abnormalities in those with @PHENOTYPICFEATURE$ and genital abnormalities other than @DISEASE$ (N?=?645) was lower at 19% (P?=?0.001).	false
+77581a3899a6d2bdf4874d57aed4673f5baec735	A rare case of bone dysplasia with moderate modelling anomalies of the long bones, joint dislocation, osteolysis, a congenital calvarial defect, a patent ductus arteriosus, a mild degree of @DISEASE$ and @PHENOTYPICFEATURE$ renal cystic dysplasia is presented.	false
+ce6d4cc5d813a5b85c987cee7d73af60adfdb3a0	In addition, both brothers had @DISEASE$ type II, @PHENOTYPICFEATURE$, and delayed bone age.	false
+2445318d393b518fabf32524adc11f8af4394f16	Associated anomalies included @DISEASE$ (two, one female), @PHENOTYPICFEATURE$ (two), anorectal malformations (three), cryptorchidism (two), and unilateral cystic ovary (one).	false
+a8dfa6efb11c150d2cf05ecf93ce8238284a6d62	Boys with autism, cryptorchidism, and @DISEASE$ were identified via International Classification of Diseases, Ninth Revision, codes, with further verification of @PHENOTYPICFEATURE$ case status by review of medical records.	false
+aa344b08896435a4b9e9597e01625e4f274b2888	Boys with @PHENOTYPICFEATURE$, cryptorchidism, and @DISEASE$ were identified via International Classification of Diseases, Ninth Revision, codes, with further verification of autism case status by review of medical records.	false
+4492b4846954757632d73006b1ff3c5ea66f2650	Ring chromosome 9 in a newborn male presenting with facial dysmorphia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+23e2c558a9d7478386600d13ad0e15dff5e46ea8	@DISEASE$ is characterized by agenesis of corpus callosum, anterior horn cell disease, a mixed sensory and motor neuropathy, and @PHENOTYPICFEATURE$, and is inherited as an autosomal recessive trait.	false
+656febcb0dd364a5d7757be6855eac582cd1bf68	We report an infant with @DISEASE$ deficiency who presented with lactic acidosis, shock, and @PHENOTYPICFEATURE$.	false
+fd432e87194461d500bdb1386cb1e07bf017a896	We report the clinical course and biochemical findings of a 10-year-old, @PHENOTYPICFEATURE$ girl with late-onset holocarboxylase synthetase (@DISEASE$, gene symbol HLCS) deficiency and only partial response to biotin.	false
+57a5c01acd44d1b863342bed69e0ef04ec5e5817	We therefore studied the effect of thalidomide in six patients with severe recurrent intestinal bleeding refractory to standard treatment (three patients with @DISEASE$ (CD), three patients with obscure @PHENOTYPICFEATURE$; mean of 56 blood transfusions within the last 24 months).	false
+711e47ec7968c53f8b77789dbf62afa1816b3922	The aim was to describe health-related quality of life (HRQL) and social factors, sickness and @PHENOTYPICFEATURE$ variables in a large population-based cohort of patients with @DISEASE$ (CD).	false
+1aa40cdb45eb307ee868edadb3d5ec34b578d73a	D-lactic acidosis and @PHENOTYPICFEATURE$ in a man with @DISEASE$.	false
+3d772a022836feb0d397ce857baaee8725474407	Sulfasalazine-associated @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+8b79dde792b5b4ee92122242f04ac2530f862106	[Patient with @DISEASE$ and @PHENOTYPICFEATURE$ due to hypomagnesemia].	false
+fcbb645417121a72feae783931e24ecc1e4abebb	On the basis of intravenous pyelography the frequency of @PHENOTYPICFEATURE$ was elucidated in retrospect in 140 patients with @DISEASE$ and 88 patients with ulcerative colitis.	false
+46903bfa6666cb7b0927859c2d2402b6302978e2	This report describes a 14-year-old boy who developed @PHENOTYPICFEATURE$ before a histological diagnosis of @DISEASE$ was made.	false
+6d30d3a3db5c81e4e63cb34d03a12b6294858afb	The endosonographic findings of anal @PHENOTYPICFEATURE$, malignancy, trauma, abnormalities in @DISEASE$, and ulcerative colitis, as well as the role for anal endosonography among other imaging modalities, are discussed.	false
+3d772a022836feb0d397ce857baaee8725474407	Sulfasalazine-associated @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+fd81e2fea802b647e6c7de2cd6c835048dc04ac9	The four patients in whom both procedures disagreed had complex anal @PHENOTYPICFEATURE$ with multiple fistulas and/or abscesses due to @DISEASE$.	false
+fa44278bcfd2302ebf77f2ea5256350825f1875b	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, @PHENOTYPICFEATURE$, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+5f4a574cbe82ad8922d69bcb18d48c1a03e3e077	We report on a boy with congenital pure red blood cell aplasia [@DISEASE$ (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and @PHENOTYPICFEATURE$ with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.	false
+16c96390f427fe82faf4eca18d3cb4cc2e97e9a0	Approximately 50% of patients with @DISEASE$ exhibit growth retardation and multiple congenital anomalies, which primarily include craniofacial dysmorphism, upper-@PHENOTYPICFEATURE$, urogenital malformations, and congenital heart defects.	false
+08736d347ded6a2c8ceaeb06afe8c91ad819d243	@DISEASE$ is associated with joint deformities, lipomatous @PHENOTYPICFEATURE$, and often is fatal by 2-3 years of age; while SMA-PME is characterized by childhood-onset motor neuron disease and progressive myoclonic epilepsy.	false
+6336d9dbb3930dde2acbb25e308f3869d01a1d56	Testicular cancer, @PHENOTYPICFEATURE$ and metabolic syndrome, and @DISEASE$ were found to dominate male infertility research, whereas erectile dysfunction and unexplained male infertility had lesser attention.	false
+af962fc8b0625a079d722fd865e6083198047457	This report contains case studies on three children with early end-stage renal failure due to @PHENOTYPICFEATURE$ or @DISEASE$, but without bladder involvement.	false
+79f8c39757ff06afcf89a3275e2e42aef3aa4e17	[Clinical application of diuretics: @PHENOTYPICFEATURE$ and @DISEASE$].	false
+d7b1ff5df174c06c379d51d5e3b44d574bf194d1	He developed multisystem disease including @PHENOTYPICFEATURE$ and @DISEASE$, and died aged 3 months.	false
+4c1defd42002a0a1a47ab28b61edb743a463c406	The commonest indications for biopsy were a suspected systemic disorder, persistent proteinuria with or without the @DISEASE$, and @PHENOTYPICFEATURE$.	false
+bb6aa8c3df39713c0622615996d52ee3c3a50d8a	7) @DISEASE$ and @PHENOTYPICFEATURE$--1 patient; 8) Unclassified--1 patient.	false
+f6f6d092a6d29dc9daa2148c4e3fe63de2f85cba	@DISEASE$ associated with bacteraemia after shunt operations for @PHENOTYPICFEATURE$.	false
+5e84cb80348fbd1ecabda778ac7b7b49dc7ff06a	Bacteraemia by P. aeruginosa associated with @DISEASE$ after shunt operation for @PHENOTYPICFEATURE$.	false
+f9fe755eda86fce33ef0e7629cd187d05f2f4413	Sixteen and twenty patients had @DISEASE$ and @PHENOTYPICFEATURE$ respectively at the time of diagnosis.	false
+5a43c6c9087061a0a45f938771593c8018dd21a7	Children with steroid-dependent @DISEASE$ (SDNS) often suffer from serious adverse events, including @PHENOTYPICFEATURE$ and obesity.	false
+603bfdb1bfcf7ad6b6bdfe27f739e24404f33634	Children with steroid-dependent @DISEASE$ (SDNS) often suffer from serious adverse events, including growth retardation and @PHENOTYPICFEATURE$.	false
+9e193bc088db1f0943a72b390ecdf3f8428675a2	We conclude that elevation of beta2M-microglobulin in patients with the @DISEASE$ who have normal creatinine clearance suggests early @PHENOTYPICFEATURE$ in these patients.	false
+f8ef5f5377ca265b4a570f4bfa671fe325386b25	Increasing age, BMI, ASA status, MetS, obstructive sleep apnoea, asthma, @PHENOTYPICFEATURE$, surgical duration, and procedure type were independently significantly associated with @DISEASE$.	false
+44a4da3d3f45627c9caf78ca7017b4a97d23ccae	However, @PHENOTYPICFEATURE$ participants tended to show higher activation in posterior parietal cortex (@DISEASE$).	false
+bd355f4265272fd8a37f4abb8daf293d5cf763cb	The incidence of @DISEASE$ was 12.9 per cent, while cardiac complications (myocardial infarction, @PHENOTYPICFEATURE$, and ventricular arrhythmias) were present in 9.8 per cent.	false
+efd2845888dadb237404554eaf06b03fc5a3151a	Whole-brain analyses revealed differences between @PHENOTYPICFEATURE$ and hearing participants for peripheral vs. perifoveal visual processing in extrastriate visual cortex including primary auditory cortex, MT+/V5, superior-temporal auditory, and multisensory and/or supramodal regions, such as posterior parietal cortex (@DISEASE$), frontal eye fields, anterior cingulate, and supplementary eye fields.	false
+60eafa7e6db3e3b5ec72b6020af93ac58c0ad036	Urinary tract obstruction, including both urethrovesical junction and @PHENOTYPICFEATURE$, may be caused by @DISEASE$.	false
+1c96d0c771b327ed06d6a5ebb2f6dd9a79307789	Conditions studied were breast and @DISEASE$, colon cancers, Alzheimer disease, cystic fibrosis, hearing loss, hereditary hemochromatosis, long QT syndrome, spinocerebellar @PHENOTYPICFEATURE$, Tay-Sachs disease, and Canavan disease.	false
+39ecf9dc73b177735b963a251585854bc226210e	We present an 80-year-old lady with a history of @DISEASE$, who manifested with @PHENOTYPICFEATURE$ and left upper extremity weakness.	false
+f5d4b4692e444679cef65500b7b242262898fbeb	We present the case of a 50-year-old woman with PCD and presumed @DISEASE$ who initially complained of @PHENOTYPICFEATURE$ and dysarthria.	false
+1c21d38ab70de33db9637c67dc1a7d0d74c9ab81	In addition, avian species can be used for studying the etiology of human @DISEASE$ and other human diseases such as disorders based on the @PHENOTYPICFEATURE$ of lipids and as unique mechanisms for the biosynthesis and transport of cholesterol.	false
+2bcb86245d6b5b9422a070e5e8ea03a5b8ecd9e7	Paraneoplastic opsoclonus myoclonus with @PHENOTYPICFEATURE$ (POMA) is more common in patients over 40 years of age and is usually associated with lung (especially small cell), breast and @DISEASE$ but has also been reported with many other cancers.	false
+0699784e8fda5b2c8482a28092c6219daf4e135c	Herein we investigated whether decreased Endo1 expression in the hypothalamic @DISEASE$, associated with reduced @PHENOTYPICFEATURE$, could also ameliorate glucose homeostasis accordingly.	false
+d238787afff8fc08eb76881e20dc9df11f9f8349	Treatment of newborn mice with monosodium glutamate (MSG) is neurotoxic for hypothalamic arcuate nucleus (@DISEASE$) and causes @PHENOTYPICFEATURE$.	false
+c919c70a2303de1feeb26a699023b9433d093ed1	The principal presentation leading to discovery of the @DISEASE$ was @PHENOTYPICFEATURE$ (68.9%).	false
+116773be54d6d9005ce6cee08810e7d774553d37	A survey of the literature revealed 28 cases of inherited ichthyoses with skin malignancy, including 12 cases of keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, seven of @DISEASE$, three of Netherton syndrome and six of miscellaneous ichthyosis.	false
+a8712ca1d9213e9456a67a47cef0ee2978f01916	Resistance to leptin in the @DISEASE$ is an important component of the development of @PHENOTYPICFEATURE$ and type?2 diabetes.	false
+90c689ee8019a169cddc56bcecefc41a1de1b8b5	In this paper, we have studied @DISEASE$ (PLOSL), an early onset @PHENOTYPICFEATURE$ with bone fractures caused by mutations in TYROBP (DAP12) and TREM2 genes, which encode important signaling molecules in human dendritic cells (DCs).	false
+8091899a9fac52b8fb1b5d0beda44f6e120e7225	DAP12 is a microglial signaling protein expressed around birth, mutations of which in the human induces the @DISEASE$, characterized by early @PHENOTYPICFEATURE$.	false
+c1c9ea573bdf30d9810de925ce9d84a0aa193b30	Mutations of Q33X, Y38C and T66M cause @DISEASE$ (NHD) which is characterized by early onset of @PHENOTYPICFEATURE$ and bone cysts.	false
+687e1088b6449e97872b9530ed9681361a68a62b	Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (@DISEASE$) which is characterized by early onset of @PHENOTYPICFEATURE$ and bone cysts.	false
+597a09dd5ffcdc29944558701e4a86dd491a65ff	Loss-of-function mutations in TREM2 cause @DISEASE$ (NHD), a rare genetic disease characterized by early-onset @PHENOTYPICFEATURE$ with leukoencephalopathy and bone cysts.	false
+310e72885e6d1976a50e0f0eb78ca2bdd026776f	Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (@DISEASE$), a rare genetic disease characterized by early-onset @PHENOTYPICFEATURE$ with leukoencephalopathy and bone cysts.	false
+41dae599f295e724ea8ffb17dbc50333c26b965d	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "@DISEASE$," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset @PHENOTYPICFEATURE$ and bone cysts.	false
+039a3052e6e2a55a3eacd8edcb6c5de2fce0a698	@DISEASE$ (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset @PHENOTYPICFEATURE$ and bone cysts.	false
+787c9e741f159055c6cee8582c52541bf0d2abeb	Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset @PHENOTYPICFEATURE$, named @DISEASE$ (NHD).	false
+5920382631da9cc862397ad00827d3f5577917fd	Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset @PHENOTYPICFEATURE$, named Nasu-Hakola disease (@DISEASE$).	false
+724623ee1acd70b1c1bc8431f9a826e1af29cee9	TREM2 mutations are the genetic basis for a condition characterized by @DISEASE$ (PLOSL) and an early-onset @PHENOTYPICFEATURE$ syndrome.	false
+2bff8664849e4e9fe5b8f587074d5efe6e4336b7	Previously it had been shown that homozygous loss of function mutations in TREM2 cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL, @DISEASE$) and also a pure form of early-onset @PHENOTYPICFEATURE$.	false
+79385faa4bae96a6b8dcb77093ad4ace7e13c83e	Previously it had been shown that homozygous loss of function mutations in TREM2 cause @DISEASE$ (PLOSL, Nasu Hakola disease) and also a pure form of early-onset @PHENOTYPICFEATURE$.	false
+bbdea8cd5bafef976f67902adbf41f8f57e88c15	Homozygous missense mutations in TREM2 cause @DISEASE$ (NHD), an early-onset @PHENOTYPICFEATURE$.	false
+948aa51df563652b0ab3bfdbcbda9f1deb4e7055	Homozygous missense mutations in TREM2 cause Nasu-Hakola disease (@DISEASE$), an early-onset @PHENOTYPICFEATURE$.	false
+a16e26e9dc07e7c37ed91a43eb8cb983d2242d4f	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and @DISEASE$ or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and brain calcifications.	false
+7e03e81c795002e658e2da20bcaa77fe3a942bac	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or @DISEASE$ are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and brain calcifications.	false
+4f3ee739d5a453c9edf73ed8785b02548e33dc3d	Antisynthetase syndrome is a subgroup of the idiopathic inflammatory muscle diseases and is characterised by @DISEASE$, @PHENOTYPICFEATURE$, arthritis, and Raynaud phenomenon.	false
+b9b680d0826c329af019dacc37ed08abaa5a84ef	With appropriate care to avoid exacerbation of @PHENOTYPICFEATURE$ and @DISEASE$, staged increases in the volume of supervised and unsupervised exercise therapy can safely and effectively maintain and improve physical capacity, exercise tolerance, and overall physical activity.	false
+05dcea5c358874a864d5b375edb7b1c4ef3d5004	She was affected with cutaneous @DISEASE$ and @PHENOTYPICFEATURE$ when she was 26 years old.	false
+1933aa29e01760ee055f94271f78985544690f0d	A prompt treatment of infections and @PHENOTYPICFEATURE$ is sometimes life-saving in patients with @DISEASE$.	false
+b01cbde5bc59eb55c84d6d9e3680b027e4864272	Improvements in muscle strength, balance, gait velocity, and exercise tolerance were observed, with no exacerbation of @DISEASE$ or @PHENOTYPICFEATURE$.	false
+783af80fca15e84e3da211c3ce2b33ad14aa7272	Patients with skeletal @DISEASE$ are more likely to develop @PHENOTYPICFEATURE$, sustained symptomatic arrythmias, and cardiac sudden death.	false
+95c6b32c1da9c003af433f3fe51969913f23ed5f	A 36 year-old female with a diagnosis of systemic sclerosis suffered from an acute episode of skeletal @DISEASE$ and refractory @PHENOTYPICFEATURE$ with cardiogenic shock.	false
+4d8cc3313a05b47948a70c72fa85eb7aa8ef9999	During her long illness she had recurrent conjunctivitis and systemic complications such as arthritis, pleural and pericardial effusions, vasculitis, sudden @PHENOTYPICFEATURE$ with M?ni?re-like vertigo, erythema nodosum and @DISEASE$ that responded, at least partially, to steroid treatments though she remained corticoid dependent in order to control her more severe symptoms.	false
+a4a12dfd3f08e14645101b63433ae908b718ffdd	This study aimed to compare the outcomes of three surgical techniques for the treatment of patients with benign parotid @PHENOTYPICFEATURE$: superficial parotidectomy (SP; group 1), partial superficial parotidectomy (PSP; group 2), and ultrasonic scalpel-assisted minimal extracapsular dissection (US-@DISEASE$; group 3).	false
+506dd0ff03cd76622a3d092c09d9e9a06aa76cce	Minimal margin extracapsular dissection (@DISEASE$) with dissection on or closer to the @PHENOTYPICFEATURE$ capsule may be a reasonable alternative to ECD.	false
+764e6dd67a1add12e9008a4bab5b35d654242956	To investigate whether patients with @DISEASE$ alone or in the presence of other craniofacial features including @PHENOTYPICFEATURE$ or CLP might be caused by TBX22 mutations, we analyzed 45 Thai patients with isolated ankyloglossia, 2 unusual CPA families, and 282 non-syndromic Thai and UK patients with CLP.	false
+5f9c78fcfe25128971584a93346613570f89a505	It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, @PHENOTYPICFEATURE$, cleft or bifid uvula, @DISEASE$ and some extraoral anomalies involving hand, foot and genitalia.	false
+8fedaa9b4942692b8e1d25c65d4e36697cfbb726	Orofacial manifestations of Van der Woude syndrome (VWS) include cleft lip or palate, lower lip pits, @PHENOTYPICFEATURE$, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and @DISEASE$.	false
+a0d5cd074bbfd2f642225790f2c1047854c4f2b3	@DISEASE$ (MIM #602541), or also called megaconial congenital muscular dystrophy, is characterized clinically by early-onset @PHENOTYPICFEATURE$ and severe mental retardation, and pathologically by peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.	false
+39aaee424b22db2a393718aa48f343c8805ef779	Congenital muscular dystrophy with mitochondrial structural abnormalities (MIM #602541), or also called @DISEASE$, is characterized clinically by early-onset @PHENOTYPICFEATURE$ and severe mental retardation, and pathologically by peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.	false
+298d30b312ccac19297f457854b08202bc977632	During acute infections high titers of Anti-F were associated with elevated titers of cold-active hemagglutinin (@DISEASE$) and immunoconglutinin (IK) and all were associated with @PHENOTYPICFEATURE$ and elevated parasitemia.	false
+3297c47fbe6fd24bcb5c2bcdf490e306dccc738f	Cardiac evaluation of paediatric patients with @DISEASE$ showed no signs of @PHENOTYPICFEATURE$ or ventricular dilatation.	false
+810b116ff7ba3baf7a0fa2a25a9203737693e317	Several ocular diseases involve the iris, notably including oculocutaneous @PHENOTYPICFEATURE$, pigment dispersion syndrome, and @DISEASE$.	false
+e6691999bdac7c742c42d68f25778e03d0016870	We present the case of an 86-year-old woman with a right-side transudative chylothorax associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e7ceafea4066090575d54df7e8c23941653e2c5c	These results clarify the pathology underlying blast-induced sensory dysfunction, and suggest possible links between blast injury, @DISEASE$ hearing loss, and @PHENOTYPICFEATURE$.	false
+986956789b1306060f19d0d6435ce3094cd86d87	The phenotype of the @DISEASE$ (hystrix-like ichthyosis, @PHENOTYPICFEATURE$)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes.	false
+762484b7267bae9b6f0d6667f3aa2fb37e655a65	The phenotype of the @DISEASE$ (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, @PHENOTYPICFEATURE$) syndrome is primarily characterized by skin changes.	false
+827f0397467e678925297114c244d82dce1962b2	This case demonstrates that KID syndrome comprises a spectrum of ectodermal disorders which may include diseases such as hystrix ichthyosis and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+436608b5e25b9b0f959a01dcd05559bccc0c1cdd	Bariatric surgery for @PHENOTYPICFEATURE$ and @DISEASE$ Cushing syndrome.	false
+1e9786bef95ba5ff3bbba8699aa36090221d90d4	In a previous study, we demonstrated that a @DISEASE$ @PHENOTYPICFEATURE$ is present in about 50% of patients with hypertrophic cardiomyopathy (HCM).	false
+ad4c535ea837fa1e762a054cc24addd4f8085d78	Also, a reduction in the numbers of synaptic ribbons in the inner hair cells and spiral ganglion cells is associated with @DISEASE$ hearing loss, which is strongly associated with @PHENOTYPICFEATURE$ or hyperacusis.	false
+417b3efdc3a5df14e49ad6bcb4380865315ba0c8	Recognizing delayed language development in children with @DISEASE$ @PHENOTYPICFEATURE$.	false
+fdc614d51d3812c1254907c2195afee6b5a52962	This type of hearing dysfunction has recently been described as @DISEASE$ hearing loss caused by cochlear neuropathy, which is associated with @PHENOTYPICFEATURE$ or hyperacusis.	false
+79e1ac4ea4263909c021e0d5129a2f431b3964f6	For clinical practice, the knowledge of cardiopulmonary interactions is of paramount importance in understanding the crucial role of mechanical ventilation for treating patients with @PHENOTYPICFEATURE$ and, by contrast, the deleterious cardiovascular effects of weaning in patients with overt or @DISEASE$ cardiac failure.	false
+f4e5d2f5dfa288a25ec5bb26df05227634879248	For clinical practice, the knowledge of cardiopulmonary interactions is of paramount importance in understanding the crucial role of mechanical ventilation for treating patients with heart failure and, by contrast, the deleterious cardiovascular effects of weaning in patients with overt or @DISEASE$ @PHENOTYPICFEATURE$.	false
+72d559eb6984a541e1b2093e238dbdebdedffdd7	Subjects discussed include multifocal Purkinje cell tumors, benign congenital polycystic @PHENOTYPICFEATURE$ of the AV node, several types of congenital heart block, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the Wolff-Parkinson-White syndrome, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, @DISEASE$, long QT syndrome, and apoptosis of the heart.	false
+ee89285c3b2919e04302b4d9452367405b7d7496	Subjects discussed include multifocal Purkinje cell @PHENOTYPICFEATURE$, benign congenital polycystic tumors of the AV node, several types of congenital heart block, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the Wolff-Parkinson-White syndrome, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, @DISEASE$, long QT syndrome, and apoptosis of the heart.	false
+d6e6b3bc37e6a24d2099b7ce91cc3bb3bc5b7a72	Abnormalities of embryonic patterning are hypothesized to underlie many common congenital malformations in humans including @PHENOTYPICFEATURE$ (CHDs), left-right disturbances (L-R) or laterality, and holoprosencephaly (@DISEASE$).	false
+c2a10bd55601f1c79401819dbc4a37850aaf0c31	Children with @DISEASE$ have many medical problems in agreement with the severity of the brain malformation: craniofacial abnormalities, neurological signs, endocrine disorders, oromotor and @PHENOTYPICFEATURE$ dysfunction, thus requiring a multidisciplinary team for symptomatic treatment of manifestations, prevention of complications and parental support.	false
+8d5b342ef00c344538ca5bcc180e733ef0c63d6b	The case was also diagnosed as having @DISEASE$-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, @PHENOTYPICFEATURE$, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.	false
+d5226207a0edd29ace4fb555cda2fc024a757df4	Therefore, both HSE and @DISEASE$ are effective and viable treatment strategies for preventing the development and treating the symptoms of @PHENOTYPICFEATURE$.	false
+f8ed4be12355a121c81a47a41f397deba930d0b4	These @PHENOTYPICFEATURE$ may also be seen in patients with schwannomatosis and @DISEASE$, but these phenotypes are usually easy to distinguish.	false
+464565917145277bb74820e20bde7b9ff7721a1e	Detection of DNA adducts correlated with CYP1A1-positive tumors (P = 0.023), but not with @DISEASE$-positive @PHENOTYPICFEATURE$.	false
+75d71eb6839a24c115bfa7bdf2c64f287980d62e	Detection of DNA adducts correlated with CYP1A1-positive @PHENOTYPICFEATURE$ (P = 0.023), but not with @DISEASE$-positive tumors.	false
+bdb324b226694f65bf37295c97f74f08c98973c8	A 19-year-old woman presented with psychomotor retardation, developmental delay, mental retardation, short stature, low body weight, general muscle hypotonia, distal @PHENOTYPICFEATURE$ of the lower extremities, elongated digits, scanty pubic and axillary hair, hypoplastic external female genitalia, and secondary amenorrhea but no clinical features of @DISEASE$.	false
+07cc4a577efbc5022f53b729e32071a049be578c	Spontaneous corneal @PHENOTYPICFEATURE$ and perforation may occur in patients with corneal ectasia due to @DISEASE$.	false
+08905b6d14a8b971010dbba748023ff624ade363	Replicated experiments confirmed the @DISEASE$, @PHENOTYPICFEATURE$, and formation of neuropathic pain.	false
+7169c5fa81a21bcc12279a318b48b2c2fcc4fb7b	Vascular anomalies in the chorionic plate and stem villi, the increased size and @PHENOTYPICFEATURE$ of the stem villi during normal formation of the terminal branches of the villous tree, the lack of proliferation of villous trophoblast were the typical signs of @DISEASE$ and were noted in all cases.	false
+f5c9a7cdc60447049064b8f35587a25fe481dbd8	Corrections of diverse forms of @PHENOTYPICFEATURE$ in patients with mucopolysaccharidosis type IVA (@DISEASE$).	false
+3cb48ffc48ea2f25255c516e92732dbe5a46ef09	Corrections of diverse forms of @PHENOTYPICFEATURE$ in patients with @DISEASE$ (Morquio syndrome).	false
+d6ebfbd30cd85331b692ad549b6f0ea1ac76057f	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that may be a feature of PNFA.	false
+569a7ee7eec3c917ed7b298c89b4125374f5622c	Acquired apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that affects the implementation of articulatory gestures and the fluency and intelligibility of speech.	false
+0a7450b6befcefc3055a1cbab5f69a9736f03e8b	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that disrupts the planning and programming of speech motor movements.	false
+ead90df3ea2e25a5fc55d269b19dbd7b4cd17e2e	All patients had @DISEASE$ based on reduced diadochokinetic rate, 69% of cases had an abnormal orofacial @PHENOTYPICFEATURE$ score and 44% of cases (including the three CBS cases and one case with PSP) had an abnormal limb apraxia score.	false
+4c130540d75ddc4a2e8c74fc335b684956162dae	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ characterized by disturbed spatial and temporal parameters of movement.	false
+10fbd33a51f7dfa4873da16f78421df622e09df7	In addition, @DISEASE$ patients had negative connectivity between the left PM and right aINS and this effect decreased with increasing severity of non-verbal oral @PHENOTYPICFEATURE$.	false
+1fa9c72003e07bd617b396c15fddd2c6e5581729	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$, which is clinically characterized by the combination of phonemic segmental changes and articulatory distortions.	false
+f195937cc3a1702cd2b16210b15e80d3f3c265e3	Separate sections are devoted to the delimitations of @DISEASE$ from oral facial @PHENOTYPICFEATURE$, dysarthria, and phonological impairment.	false
+814b30a9baf1840ab638fd10bfd30b5f7b41b394	Acquired apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ caused by brain damage.	false
+d0eaf9a9ba8e658932c949981b8a4f6795ab75c9	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that can occur in the absence of aphasia or dysarthria.	false
+86631e3a6c0e669c4cc7eae6677db09e8332a95d	@DISEASE$ (CJD) presents with rapidly progressive dementia associated with several symptoms including pyramidal, extrapyramidal, and @PHENOTYPICFEATURE$.	false
+41e4806d0ebb6ba30a4e21ab4e314926695331b6	Creutzfeldt-Jakob disease (@DISEASE$) presents with rapidly progressive dementia associated with several symptoms including pyramidal, extrapyramidal, and @PHENOTYPICFEATURE$.	false
+450c0f2b5b9cd8ba35aa68b7a265008e40fd0e09	Analysis of the clinical data showed that @PHENOTYPICFEATURE$ or myoclonus combined with progressive dementia were the main features leading to a clinical suspicion of @DISEASE$.	false
+d569187972bb5f0817c333c91b8f0f2a3817fafe	We report a family in which four patients developed classical clinical signs of @DISEASE$, including severe cognitive decline, @PHENOTYPICFEATURE$, myoclonic jerks, and synchronic periodic discharges on electroencephalogram.	false
+4960a8b20348ea3b7d33f5fe021840fdb0b1e33e	Herein, we report a patient who developed persistent dry cough and classical signs of @DISEASE$, including severe cognitive decline, @PHENOTYPICFEATURE$, and myoclonic jerks, leading to death a few weeks after disease onset.	false
+48b1600517a85d60bdfee149e3fe0cc76cd57b5d	They correlated with the advancement of key clinical @DISEASE$ symptoms (progressive dementia, extrapyramidal and @PHENOTYPICFEATURE$, myoclonic jerks, mutism and typical periodic EEG changes), while motor lesion signs might only be slight or absent.	false
+407d5a496d2fc1791fbd92a708809d9df10b3966	The criteria proposed for diagnosis of @DISEASE$ include the presence of progressive dementia and at least two of the following characteristics: 1. Myoclonias, 2. Cortical blindness, 3. Pyramidal, extrapyramidal or @PHENOTYPICFEATURE$, 4. Akinetic mutism, or 5 Abnormal EEG.	false
+7909b3cd20c865b678f6262b9c19a5eafc5e0e8c	He underwent neurosurgery for presumed recurrence of a posterior fossa @PHENOTYPICFEATURE$ but was subsequently shown to have @DISEASE$, confirmed on necropsy.	false
+e12b304c7043ff859d462dd139a6af322949ba18	Mortality, @PHENOTYPICFEATURE$, and @DISEASE$ in patients treated with human pituitary growth hormone in the United Kingdom.	false
+c79769f5c87b28be160b0e94276fe13a522f661d	293 CSF samples of patients with @DISEASE$ (CJD), Alzheimer's disease, dementia with Lewy-bodies, Parkinson's disease, multiple sclerosis, @PHENOTYPICFEATURE$, generalized epileptic seizures, and meningitis and encephalitis in comparison to controls were analyzed.	false
+9744b230f9c892d3728dec20bf7136b04069129c	293 CSF samples of patients with Creutzfeldt-Jakob-disease (@DISEASE$), Alzheimer's disease, dementia with Lewy-bodies, Parkinson's disease, multiple sclerosis, @PHENOTYPICFEATURE$, generalized epileptic seizures, and meningitis and encephalitis in comparison to controls were analyzed.	false
+538ab4e08a68e20e723784ae605b98a710218afc	The two most common diagnoses in the subgroup with rapidly deteriorating neurological conditions were primary central nervous system (CNS) B-cell lymphoma in 20.3% (13 patients) and @DISEASE$ in 15.6% (10 patients), followed by viral encephalitis in 14.1% (nine patients) and CNS @PHENOTYPICFEATURE$ in 9.4% (six patients).	false
+cecf7d42d81c024ab442ab7c47bed72994c0a7f5	We describe two adolescent Indian siblings with @DISEASE$ with cognitive impairment, @PHENOTYPICFEATURE$, juvenile cataracts and chronic diarrhea.	false
+10f73f7779a43634eb641650483074af8aaa95fc	Factors associated with CIN included less education; having childcare responsibilities; poorer functional status; higher levels of depression, @PHENOTYPICFEATURE$, evening fatigue, and intrusive thoughts; as well as receipt of @DISEASE$ on a 14-day CTX cycle and receipt of an antiemetic regimen that contained serotonin receptor antagonist and steroid.	false
+a33446ea027928d799bf7b7a6d6ed0159412f7e4	Factors associated with CIN included less education; having childcare responsibilities; poorer functional status; higher levels of depression, @PHENOTYPICFEATURE$, evening fatigue, and intrusive thoughts; as well as receipt of CTX on a 14-day @DISEASE$ cycle and receipt of an antiemetic regimen that contained serotonin receptor antagonist and steroid.	false
+d2514d49df642b86ec1065afb532a4ce76ffdc5b	Latent growth curve analyses were conducted to examine the trajectories of pain, fatigue, @PHENOTYPICFEATURE$, distress, and depression for 16 months after initial @DISEASE$.	false
+ce17b9d514bc3cb7a1e12c39e071000890443324	Only one treatment-related SC, which consisted of fatigue, pain, and @PHENOTYPICFEATURE$, was identified after @DISEASE$ completion.	false
+94e6e04924e9282537d49b9f8c81f8386bf2084f	Across the two cycles of @DISEASE$, higher levels of @PHENOTYPICFEATURE$, depression, and morning fatigue, as well as higher levels of intrusive thoughts, were associated with higher initial levels of CIN.	false
+2c00cbd8e631c9b5d1cd5d5ddfa2935a28204744	The primary outcomes of fatigue, @PHENOTYPICFEATURE$, and functional status were measured before CTX, Day 4 after first treatment (baseline), and 43-46 or 57-60 days later (follow-up), depending on the @DISEASE$ cycle length.	false
+f18504ee42527989b51e18bb95c177fb0be3da58	The purposes of this study, in a sample of women with breast cancer receiving chemotherapy (@DISEASE$), were to identify subgroups of women with distinct experiences with the symptom cluster of pain, fatigue, @PHENOTYPICFEATURE$, and depressive symptoms and evaluate differences in demographic and clinical characteristics, differences in psychological symptoms, and differences in pain characteristics among these subgroups.	false
+1b6543856321613e9b6a976f2f7c3781753b8198	Pain, depression, distress, fatigue, and @PHENOTYPICFEATURE$ are common symptoms in oncology patients, but little data are available that examine the trajectories of these symptoms during chemotherapy (@DISEASE$).	false
+5f0d68908eeb27684744db3ac2cd49ce8f65c5cc	In the logistic regression analysis, compared to high class, patients with lower income, higher comorbidity, higher @DISEASE$ toxicity score, and higher levels of state anxiety, depression, and @PHENOTYPICFEATURE$ were more likely to be in low AFI class.	false
+087e79ecadc02b9f97642ea76da805150e998547	In an attempt to reach better treatment of @PHENOTYPICFEATURE$, gel formulations containing Cefotaxime (@DISEASE$) were prepared.	false
+0af9573710b22d70c88b1648c53217da2812beaf	@PHENOTYPICFEATURE$ is common among children with @DISEASE$.	false
+48bc7f9581927cadd817c6f830152abff1761fed	Independent predictors included maternal age of 25 years or older, non-Hispanic African American and Filipino groups, parity of 4 or greater, multiple gestation, severe @PHENOTYPICFEATURE$, pre-existing and pregnancy-related hypertensive disorders, and @DISEASE$.	false
+a2a3e09e2a9c33f99a5fcd4d82e3a81f8f9aea1c	Our retrospective analysis revealed that diagnoses including polyembryony, @PHENOTYPICFEATURE$, thrombocytopenia, preeclampsia, placenta previa, placenta implantation, uterine scarring, uterine rupture, retained placenta, stillbirth, and @DISEASE$ are significantly associated with perinatal transfusion and are risk factors for blood transfusion.	false
+2ea67f1295cf1f369878dd27c82a518d0d247e0a	Comorbidities included thrombocytopenia (25%), pulmonary infection (25%), @PHENOTYPICFEATURE$ (19%), fever (17%), acute renal failure (8%), @DISEASE$ (6%), DIC (6%).	false
+59aabe0132d42fe1bdd0a725c3fa7eb27e3bdb08	We describe a case of a severe, immediate postpartum @DISEASE$ (hemolysis, elevated liver enzyme levels, low platelet count) with reversible posterior leukoencephalopathy (RPLS) characterized by generalized seizure, altered mental status, and @PHENOTYPICFEATURE$ in a 37-year-old primigravid woman.	false
+dd2332711afcd93f5a435486889795d38230c01a	@PHENOTYPICFEATURE$ and @DISEASE$ are the commonest triggers of ES.	false
+04212a8bd7e5e4cf0d647352ba71cc1d62cea669	In this cohort of ACS, BB therapy before admission for @DISEASE$ is associated with decreased in-hospital mortality and major cardiovascular events, and 1-year mortality in patients without HF or @PHENOTYPICFEATURE$ if still prescribed on discharge.	false
+e1eb5d49f37bd8768c5976313759e7d603fc9125	The prognostic impact of ?-blockers (BB) in acute coronary syndrome (@DISEASE$) patients without heart failure (HF) or @PHENOTYPICFEATURE$ is controversial, especially in the postreperfusion era.	false
+8730bc44dc5e4946d98246f9ce7a0d5842f806bb	The prognostic impact of ?-blockers (BB) in acute coronary syndrome (@DISEASE$) patients without @PHENOTYPICFEATURE$ (HF) or left ventricular dysfunction is controversial, especially in the postreperfusion era.	false
+eddb28135a8cd5c00bd02740eeb619c4d70c1e88	The constellation of advanced cardiac life support (@DISEASE$) events, such as gas embolism, local anesthetic overdose, and spinal @PHENOTYPICFEATURE$, in the perioperative setting differs from events in the pre-hospital arena.	false
+93146637a9debd74258080de85e307491b3df2b8	Auriculocondylar syndrome (@DISEASE$) is a rare craniofacial disorder with @PHENOTYPICFEATURE$ and question-mark ears (QMEs) as major features.	false
+eac8a5b90270e38cde8626e66e88b6f0adb1d1df	Although the incidence of VAs has declined in the hospital phase of acute coronary syndromes (ACS), mainly due to prompt revascularization and optimal medical therapy, still up to 6% patients with ACS develop ventricular tachycardia and/or @PHENOTYPICFEATURE$ within the first hours of @DISEASE$ symptoms.	false
+3fdbfd572846a4c1bed7940e3610e8be2c66f395	Although the incidence of VAs has declined in the hospital phase of acute coronary syndromes (@DISEASE$), mainly due to prompt revascularization and optimal medical therapy, still up to 6% patients with ACS develop ventricular tachycardia and/or @PHENOTYPICFEATURE$ within the first hours of ACS symptoms.	false
+c84dbfa839bf49cf8d78a7fd6bd349d5ee169e4a	Although the incidence of VAs has declined in the hospital phase of acute coronary syndromes (ACS), mainly due to prompt revascularization and optimal medical therapy, still up to 6% patients with @DISEASE$ develop ventricular tachycardia and/or @PHENOTYPICFEATURE$ within the first hours of ACS symptoms.	false
+e98ea68c0f0163ca4dcda73dea21a2edc7575211	Intracranial @DISEASE$ might become a valuable treatment option for severe intractable @PHENOTYPICFEATURE$.	false
+d056e5345afa512485abe0052bbb1cb00a1e6b40	@DISEASE$ patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and mental deficiency.	false
+ff9393efa1a574326cb0693501654bf1b5dd79bf	We report on a patient with severe pre- and post-natal @PHENOTYPICFEATURE$, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+cf19cf627ddb9048c49dc0ea5c19ce01850c9128	We report on a patient with severe pre- and post-natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked @PHENOTYPICFEATURE$ and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated @DISEASE$ deficiency diagnosed at 7 years of age.	false
+e8ce502e1e99ef647cba765b9b7db6d8d377678e	We enrolled 154 consecutive @DISEASE$ patients without @PHENOTYPICFEATURE$.	false
+87ef023e8186f020dfe0ed3ca877f7df9e3904e1	A patient with @DISEASE$ had abdominal masses, @PHENOTYPICFEATURE$, normocalcemia, and a normal serum parathyroid hormone value.	false
+9744f236f3dac6845fbed5765e1b83720b29616b	Some of these regions are in close proximity to genes encoding essential proteins for neuronal functions and human neurodegenerative disorders such as epm2a (@DISEASE$), serpini1 (familial encephalopathy with neuroserpin inclusion bodies) and il1rpl1 (@PHENOTYPICFEATURE$, X-linked 21).	false
+ba2c7c63701d9321826a8f2253b54731c2daa7b4	In the perinatal period, transient neonatal @PHENOTYPICFEATURE$ and @DISEASE$, due to maternal antibodies, need to be considered.	false
+1f51dbf59697e527200063ac42afba1b680fcd16	Other incidental clinical findings were?several dysmorphic features like bilateral cryptophthalmos, nasal malformation, anal imperforation (with a perianal fistula), an external @PHENOTYPICFEATURE$ and syndactyly characteristic of @DISEASE$ associated with pneumonia.	false
+bcee53ac9f29be6bc6f29ced909c433cb5f0b1e3	@DISEASE$ (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and @PHENOTYPICFEATURE$.	false
+9caab487846247ba6da20fd6fca5f891669a5de8	@DISEASE$ is a rare autosomal recessive disorder whose major manifestations are cryptophthalmos, syndactyly and @PHENOTYPICFEATURE$.	false
+6e023785a2360c22a29948c50fe488425135872e	Four major characteristics (cryptophthalmos, syndactyly, @PHENOTYPICFEATURE$ and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, skeletal anomalies and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+2acfa863908015d3192048cdd5073f80489b212c	@DISEASE$ is an autosomal recessive disorder characterized primarily by syndactyly, cryptophthalmos, @PHENOTYPICFEATURE$, ambiguous genitalia, and laryngeal anomalies.	false
+27d2873c07dd315abfe3e6af5b6136b5c25e93f0	Mutations of the WT1 gene were detected in patients with the WAGR complex (Wilms tumor, aniridia, urogenital pathology, mental retardation), Denis-Drach syndrome (early @PHENOTYPICFEATURE$, diffuse mesangial sclerosis, varying degrees of gonadal dysgenesis, high risk of Wilms tumor) and @DISEASE$.	false
+1a923a272d759ce358f4cae6d2d4550b8b96f0d8	@DISEASE$ (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and @PHENOTYPICFEATURE$.	false
+3db4a635e5dd93dc4f581c5337edb57467d0d557	The associations were intrauterine growth retardation in two, one of whom had @DISEASE$, bilateral @PHENOTYPICFEATURE$ (one case), epilepsy (one case), cryptorchidism (two cases), and inguinal hernia (two cases).	false
+f8a139667e616c8ca703ffc58fb9f7d1378bff74	Microsurgery and stereotactic radiosurgery (@DISEASE$) for vestibular schwannomas are associated with a relatively high incidence of @PHENOTYPICFEATURE$.	false
+1f4cab35470d609178f4b54bd2289d0e0b9aea70	The purpose of the present study was to determine the effect of endothelin-1 (ET-1) and angiotensin II (Ang II), two potent vasoconstrictors that are also involved in @PHENOTYPICFEATURE$, on aldosterone secretion by human @DISEASE$ NCIH295R cells grown in 96-well plates.	false
+8310dd281d6bf7cfea581d6e14e5b516477904ac	A 20 month old girl with failure to thrive and @PHENOTYPICFEATURE$ was found to have unilateral adrenal masses which, at surgical removal, proved to be an @DISEASE$ and a ganglioneuroblastoma.	false
+336f5c08e50b75f6cdb52dc4835efa5922e0ebe8	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$ in a 6-month-old Japanese girl is reported.	false
+5581d0a8f68c7a3cf0deeb6844c08d67ad8662eb	BWS is one of the most well-known somatic @PHENOTYPICFEATURE$ syndromes, which is characterized by macroglossia, organomegaly, abdominal wall defects, and predisposition to embryonal tumors, such as Wilms' tumor, hepatoblastoma, and @DISEASE$.	false
+684d1e4ca098caeeca40453c8ce62e7b91a83874	A case of @DISEASE$ and @PHENOTYPICFEATURE$ demonstrated at the Postgraduate Medical School of London.	false
+549761d2d62a8deebcffe73a1b27e2bce8c8b0f1	MoM cutoffs for single steroids predicting 21OHD and 11OHD were computed and validated through new, independent patients (21OHD, n = 8; @DISEASE$, n = 6; @PHENOTYPICFEATURE$, n = 40).	false
+63465d487a3d2bd8edab8e66b82802395cb9a9c9	We present a 32-year-old woman with no morbidities who was admitted with a dilated cardiomyopathy and @PHENOTYPICFEATURE$ due to @DISEASE$ (ACC) which improved completely with surgical resection.	false
+6b136c5b126c6735e8bb87485014f989dc6d221a	The femoral hypoplasia-unusual facies syndrome (@DISEASE$) is a very rare association of femoral and @PHENOTYPICFEATURE$.	false
+0f25ccc0e47223752b89d1f4ef2581ddf4e0191d	The @DISEASE$ (FFS) is a very rare association of femoral and @PHENOTYPICFEATURE$.	false
+0db24761a53b291d2a6c5723aac0cc64123141bf	The @DISEASE$ is a very rare association of femora and @PHENOTYPICFEATURE$.	false
+e426657f927e6155ef441847446457ce265bf8cb	@DISEASE$ is characterized by femoral hypoplasia and various @PHENOTYPICFEATURE$, which can be associated with a variety of other malformations	false
+aae6e100024154f31ca10ddeb933c267f1843a28	@PHENOTYPICFEATURE$ @DISEASE$ in Young Children With Tuberous Sclerosis.	false
+d4627c6470933d2ff65e7e25185005dbfb56947b	Although the combination of paclitaxel and carboplatin has a better therapeutic index than the combination of paclitaxel and cisplatin, @PHENOTYPICFEATURE$ often @DISEASE$ and remains the most chronic toxicity of this therapy.	false
+16954f718120cf7010b91190d2ae48ce87700503	@PHENOTYPICFEATURE$ @DISEASE$ frequently with the destruction of the ossicles.	false
+d1cc7de6af9f11c8ac3cad4bc9b0e2f5fd3d7db4	She had been diagnosed with @DISEASE$ at age 3 and bilateral @PHENOTYPICFEATURE$ at age 15.	false
+e2f7b2eb8b58d47d13c19b09e913bc3f3a6f4980	The morphologic results suggest that @DISEASE$ with @PHENOTYPICFEATURE$ should be regarded as a separate entity within the hereditary motor and sensory neuropathy group.	false
+6af453b099e819a6d326315a5177b2caa20fbd17	The morphologic results suggest that hereditary motor and sensory neuropathy with @PHENOTYPICFEATURE$ should be regarded as a separate entity within the @DISEASE$ group.	false
+54383a6cea3abf9a5a5d42d58991249860823095	[A case of @DISEASE$ with pyramidal tract sign, @PHENOTYPICFEATURE$ and mental retardation].	false
+bde196b57f45c5bdc108bbd6066702ca6fed959e	@DISEASE$ type VI with @PHENOTYPICFEATURE$.	false
+30f22707562eb1cb3c158b8a14faf3b8217f35b3	[Autopsy case of @DISEASE$ with @PHENOTYPICFEATURE$ and degeneration of the spinal tract.	false
+0d77e97a1d5a83224adc61002f8279673a066467	Autosomal recessive inheritance of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+de40a5d6bc4df072a8c469f6f37a2079d2675047	Clinical features of @DISEASE$ type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to blindness due to @PHENOTYPICFEATURE$.	false
+d1ee175b492cac91d3cc3c1e4ac35a62d01133a4	Clinical features of @DISEASE$ type VI are muscle weakness and atrophy in leg and hand muscles, leading to progressive disability and loss of vision and progressing to @PHENOTYPICFEATURE$ due to optic atrophy.	false
+f7e44f5b908a520f68c316fe14c847e15426159e	It is well known that HMSN VI is an axonal @DISEASE$ neuropathy with @PHENOTYPICFEATURE$.	false
+e6bb6e47567c6e6db948b6948fdff08c06f376ca	[Familial ataxia with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+07881bf98f23cb33dac64198f3993806116631f1	Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in @DISEASE$ @PHENOTYPICFEATURE$ irrespective of types of mutations.	false
+225b8774f825a2d75a8be911cd4261d56b5007a6	@DISEASE$ and @PHENOTYPICFEATURE$ is reported in 8 Jersey calves.	false
+37dc42474eb33d9d60f42c119842f350a2e87c7b	@PHENOTYPICFEATURE$, Insulin resistance and fatty liver disease are potentially part of the @DISEASE$ that may develop over time.	false
+3d04b726d1c6a34813c2aaeefe0a4c068cfe3a40	Diseases with specific histological features include @DISEASE$, primary sclerosing cholangitis, @PHENOTYPICFEATURE$, and graft-versus-host disease.	false
+a04f130635d5da5dd6cf5df29ef0a3f65023803d	The proportion of recipients with @PHENOTYPICFEATURE$ and @DISEASE$, the most common diagnoses in 1988, continues to decrease.	false
+57dae4564ffb9df3578c1f7f56c1c94c34645133	A 27-year-old female was evaluated as a donor for her 2-year-old son with @DISEASE$ due to @PHENOTYPICFEATURE$.	false
+54dcfce83d8575f9180d094fe488e2906e0c1ee5	The underlying diseases were @PHENOTYPICFEATURE$, congenital cholestasis, drug-induced @DISEASE$ and cryptogenic cirrhosis.	false
+1c4f7b425a7d09c0a338822287c50d84f1b4a806	In 1988, @PHENOTYPICFEATURE$ and @DISEASE$ were the major diagnoses for which OLTX was performed.	false
+de11daa321faed96a3133815c2ccad85681c284e	Biliary innate immunity is involved in the pathogenesis of cholangiopathies in patients with @DISEASE$ (PBC) and @PHENOTYPICFEATURE$.	false
+d00981bfe166635e7e05677cbfe80289deed2932	Bone disease and low serum levels of 25-hydroxyvitamin D are prevalent in cholestatic syndromes such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9e0efbb40a9dd24d23a4d0deff94aabce8e27979	@DISEASE$, primary sclerosing cholangitis and @PHENOTYPICFEATURE$).	false
+2456c2f47d035ff513a2482bd42adf1cd1502f20	Cholangiopathies include diseases such as @DISEASE$, Primary Sclerosing Cholangitis, @PHENOTYPICFEATURE$ and Cholangiocarcinoma.	false
+788f239e31f553bdc4ccfaa36a9470fb631d548c	The role of TLRs in @PHENOTYPICFEATURE$, hepatolithiasis, bile duct injury, and @DISEASE$ is described in this paper.	false
+2741f4439361a314b5d3ec68e0b615551852a348	The baby had @DISEASE$-@PHENOTYPICFEATURE$ and bilateral talar region punctuate calcification suggestive of chondrodysplasia punctata.	false
+c3704eae2f8ab9101b052ffd7882a6cb154848ee	Cases of RHS and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and @DISEASE$-@PHENOTYPICFEATURE$, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.	false
+4577e7fff6ef1459229208468c224f0d29727462	Cases of RHS and AEC show considerable clinical overlap, particularly with regard to @PHENOTYPICFEATURE$ and @DISEASE$-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.	false
+bfd1bf43f14b61633d8c8e06f39364c810d6a9ce	LeFort III proved to be a safer technique for the treatment of @DISEASE$-@PHENOTYPICFEATURE$.	false
+d47fce5e0e1c2bb329cbe81b44700f22c2023962	[Callus distraction of the mid-face in severe @DISEASE$-@PHENOTYPICFEATURE$].	false
+6801361daec47028184f476c0035d6ee4ac72d5c	Both were born small for gestational age with a small phallus, undescended testes, and @DISEASE$-@PHENOTYPICFEATURE$.	false
+24c03eecee461416142ed4fe638d7fac8bf7fd6c	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, @DISEASE$-@PHENOTYPICFEATURE$, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+d2f6ff78483726cac71f5d754f422c071e9d2931	The child had a short neck, hypertelorism, depressed nasal ridge, @PHENOTYPICFEATURE$, @DISEASE$-facial hypoplasia, thin upper lip, long philtrum, ear anomalies, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+68d0976ea8bd18884bee7ee87c3829df740c0b04	@DISEASE$-@PHENOTYPICFEATURE$ and mandibular prognathism are mostly seen jaw abnormalities in CD.	false
+bbcc7bc8ed38ab1fc6b3e153d60f238af49d4ce6	As anesthetist, we face difficulties in airway management due to @DISEASE$-@PHENOTYPICFEATURE$, craniosynostosis.	false
+32c4237133139761503411bddf4f2b753bece9cc	Severe @DISEASE$-@PHENOTYPICFEATURE$ was present along with a prominent nasal bone.	false
+b0a1ff18faca539db686a7e094c44619aeb2e6e3	[Le Fort III osteotomy and medium position distraction for @DISEASE$-@PHENOTYPICFEATURE$].	false
+d37ae49f81729d0f813d237a005b4aa597d603ac	@DISEASE$ (SEDC) is an inherited disorder of bone growth that results in short-trunk dwarfism, @PHENOTYPICFEATURE$, disorders in vision and hearing, atlanto-axial instability, and cleft palate.	false
+c6a404887d8b992e1afa4872aff976728537e73d	18 times an elevation of valve-pressure was necessary because of headaches, @PHENOTYPICFEATURE$, or the development of subdural @DISEASE$.	false
+f0a18902af6a288c6254be6dba257e40c6673339	These were primarily signs of developing fetal hydrops with increased nuchal edema, in some cases up to the character of @DISEASE$, pleural and abdominal effusions, congenital heart and kidney defects, skeletal defects and @PHENOTYPICFEATURE$.	false
+7d6e190bd3c18899b9a583173210f34984261a39	Fetuses with @DISEASE$ or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and @PHENOTYPICFEATURE$.	false
+c1f27724429c6dd243643b0970575ed07852ed6c	@DISEASE$, ataxia, and @PHENOTYPICFEATURE$.	false
+920343de8bd79497ce0aeffdcc3d6f9dbd174bfe	Moreover there was @DISEASE$, cerebellar hypotrophy and electrophysiologic evidence for a @PHENOTYPICFEATURE$.	false
+ee9fc5496d52fe11becf78f4cc9677b68a6d772a	The BCAMD phenotype is initially characterized by parafoveal @PHENOTYPICFEATURE$ and good visual acuity, but progresses to a @DISEASE$-like phenotype.	false
+4088a807b6babc37231a1d98ca002f4d0e86864e	It is presented a patient with atypical @DISEASE$--unilateral, sectorial and @PHENOTYPICFEATURE$ form, as part of the Laurence-Moon-Bardet-Biedl syndrome.	false
+a09bd6523a7c56bcb50059adfb9ed8b8e8bb2bb8	3-Hydroxyacyl-CoA dehydrogenase deficiency is unusual in producing @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0f3bc506665c9c9ae5ad8be2235c052b231bebe3	This results in a progressive spinocerebellar ataxia with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2f947c2724dd78c06f2755a14dd86f547a29dad2	The leading causes of visual impairment across all age groups were @PHENOTYPICFEATURE$ (31.9%) and @DISEASE$ (RP) (18.5%).	false
+8ab12ea9f0bc624f330f9f4ebf6ea1341033fed9	Chronic neurologic presentation was rare, except in LCHAD deficiency (@DISEASE$ and @PHENOTYPICFEATURE$).	false
+a144a3975321964091e60d1e216c20561bb3b0d9	The conditions reviewed are Stargardt's macular degeneration, Leber's congenital amaurosis, @PHENOTYPICFEATURE$, foveal hypoplasia, @DISEASE$, retrobulbar neuritis, amblyopia, and problems of psychogenic origin.	false
+038869b2aad1f4601ec44c95c7a295c2b88b6ef1	Astigmatism was highest in children with @PHENOTYPICFEATURE$, @DISEASE$, and idiopathic nystagmus.	false
+a0c57bcab2ea2102e6d535356806dc417cea259f	Although uncommon, @PHENOTYPICFEATURE$ have been rarely reported in @DISEASE$.	false
+c1b439c9480c36edb84f29a3a6fde9551b5d7265	Orbital @PHENOTYPICFEATURE$ in @DISEASE$.	false
+769e1012f0084422f5f2865ee5af72b3d507f2ff	@PHENOTYPICFEATURE$ is a common presentation of acute myelomonocytic and @DISEASE$.	false
+03ab69fd2ac6a8c5e1d268bd18d2b392bd1fab88	Among the various hematologic disorders, a large proportion have involved histiocytic @PHENOTYPICFEATURE$, either @DISEASE$ or malignant histiocytosis.	false
+f5e8f34d20213e805b3f27b7b6f5457bb1906b3b	@DISEASE$, an uncommon cause of @PHENOTYPICFEATURE$.	false
+1db9d9308f51f56580f7e8fe8d064034f8f59905	[A case of @PHENOTYPICFEATURE$-forming @DISEASE$ with complication of obstructed ileus due to ileal monoblastoma].	false
+7a82fe2f38bedc9a76b86435a7976edc953ee667	Extramedullary @PHENOTYPICFEATURE$ of monoblasts in the central nervous system: presenting feature of simultaneous bone marrow involvement by @DISEASE$.	false
+62fdaff0a7346ccd4bb753be1fa08b58507be296	[@DISEASE$ as secondary @PHENOTYPICFEATURE$ in a girl with acute lymphocytic leukemia].	false
+138a1ca54f65c84df6b5a902020922695602787d	We report a case of infantile @DISEASE$ associated with solid @PHENOTYPICFEATURE$ in the skin.	false
+37930f5d45a383beda96e979ef47be8e5695be79	Infantile @DISEASE$ with @PHENOTYPICFEATURE$ formation in the skin expressing adhesion molecules as seen by electronmicroscopy.	false
+c10ee865e9cff67adf9d5e750d1c3cc6cacdf013	Dermal monocytic sarcoma/monoblastic @PHENOTYPICFEATURE$: report of two cases of @DISEASE$ with initial dermal manifestations only.	false
+cb60c6bd24330d24f76a423d30ac7f8745abf10d	@DISEASE$ syndrome (sebaceous nevus of Jadassohn) associated with @PHENOTYPICFEATURE$ and optic glioma: case report.	false
+a401c002465d1ac4c4fa0304df5418e8ef803eb5	Min6 cells were treated with @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) to mimic ?-cell destruction @DISEASE$.	false
+0a795d816ad96556b869e374731c5f37e5f967bc	The safety of any immune modulating agent @DISEASE$ (T1DM) involves its selectivity on autoimmunity and its preservation of recall and @PHENOTYPICFEATURE$ immunity.	false
+1b3bbc5a2164753baaecc3b4fc057a1860222e18	In this article, we report the case of a child who was diagnosed with @DISEASE$ and who was found to have a significant @PHENOTYPICFEATURE$ with a Carhart's notch, indicating the likely presence of stapes footplate fixation.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+5eb58fc8dbac575d854d956e97811324b21842c5	Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for @DISEASE$ either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo @PHENOTYPICFEATURE$ (five cases), predicted two fetuses being affected and six being normal.	false
+13df6710c504b45e0e533f3fb5828f8cb85709bb	We described a family with @DISEASE$-WC caused by a novel autosomal dominant @PHENOTYPICFEATURE$ (G476D) in the keratin 5 gene.	false
+92859c2e6e8f283089f15eba2ccca5e6ea6288cc	This observation suggests an additional effect of a recessively inherited mutation modulating the phenotypic expression of @DISEASE$ caused by a partially dominant @PHENOTYPICFEATURE$ and is important for accurate genetic counseling.	false
+cc054ccc21b40cc346412238b7faab5d82d86f0b	The median cervical cleft, the scalenus @DISEASE$, the cervical teratoma, changes of the thymus, @PHENOTYPICFEATURE$-like abnormalities of the large veins, calculus formation of the sub-mandibular salivary gland, severe traumatic and iatrogenic injury may all present difficult diagnostic and therapeutic problems.	false
+2cfac2e4b716be7f81ab3739110aedecf3ef8c9d	Oligophrenin 1 (OPHN1) gene mutation causes syndromic @DISEASE$, rostral ventricular enlargement and @PHENOTYPICFEATURE$.	false
+374576021d8eaaeb0531574ec9d292f988a38061	We propose that @PHENOTYPICFEATURE$ may be part of the autoimmune disease spectrum of @DISEASE$ in this child, and this case represents a novel manifestation and target organ involvement in this disease.	false
+f998f9dccd3b9deb86c03701abdf9878ac6eb273	@DISEASE$ associated with sarcoidosis and @PHENOTYPICFEATURE$.	false
+dc08be5503ef50d09c96702c7a787b0d60714a1a	We included 72 patients with @DISEASE$, of which 22 (31%) had @PHENOTYPICFEATURE$.	false
+eebf3d84d7c4c7f660b177d5e98446f4b674ae95	The purpose of this study was to describe the clinical presentation, MAD morphology, association with MVP, and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+9065cb06176fb3159605f0ea7ff50b6b09ab9ec5	Mandibulo-acral dysplasia (@DISEASE$) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and @PHENOTYPICFEATURE$.	false
+22c3218305c4c4704ddb3424c7957422fe632a32	Circulating sST2 levels were higher in patients with @DISEASE$ and @PHENOTYPICFEATURE$ compared with arrhythmia-free patients.	false
+c5c7c44de2855fdf2f99d0cfac9fe9c776dc4ae3	Thirty-three hours later, he suddenly developed severe headache, @PHENOTYPICFEATURE$, and @DISEASE$ just after a positional change.	false
+ec734cb7cf8c6425ca26af5225b8a876cba469d0	Epidemic @DISEASE$ and @PHENOTYPICFEATURE$ in Cuba: a unique geopolitical public health problem.	false
+d2a7c060447636a61e897993eb767af71a222b06	Other patients may have retinal hemorrhages, @DISEASE$ disc edema, and @PHENOTYPICFEATURE$ without Wernicke encephalopathy.	false
+08a541cd5828f9118f32074d275ab2d326c3f4dd	Shprintzen-Goldberg syndrome (@DISEASE$) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+674a8fbbc37e7f804dd03daaa23b91530d62b5d1	@DISEASE$ (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+31eb3eedaf63cf7a56313d0823abaf1b17e960d1	The @DISEASE$ (SGS) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic @PHENOTYPICFEATURE$, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation.	false
+c0c07d77798088c9b48d6efbea2896171dc6d4e1	The Shprintzen-Goldberg syndrome (@DISEASE$) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic @PHENOTYPICFEATURE$, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation.	false
+a1e83c5980bd28d33c085d82bdeae910f896d7c1	Schinzel-Giedion syndrome (@DISEASE$) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several @PHENOTYPICFEATURE$, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly.	false
+c4c7e40a5e7007cc795c741548a67619a12b8133	Fundoscopy presented venous enlargement with @DISEASE$ disc @PHENOTYPICFEATURE$.	false
+cff9fca879af02663765518413dfe122a55248c6	Cutaneous larva migrans with @DISEASE$ disc @PHENOTYPICFEATURE$: a case report.	false
+c0bed5e181ed0673c32b739c6a88656512dab3ee	Sarcoid @DISEASE$ disc @PHENOTYPICFEATURE$ and optociliary shunts.	false
+a3b3198ad1a025e9281fbb3b199c203624068f64	There was no associated @PHENOTYPICFEATURE$, @DISEASE$ disc abnormality, or previous history of head trauma.	false
+ddc97d5ac9ac56bbeff728bb03e7dc55d9d028bc	Patients with @DISEASE$ pathway gliomas showed @PHENOTYPICFEATURE$ significantly more often compared to patients without optic pathway gliomas (8/13 vs. 9/57, respectively; p?=?0.004).	false
+853e721282efad4baac188a45150539d785c10c3	Patients with optic pathway gliomas showed @PHENOTYPICFEATURE$ significantly more often compared to patients without @DISEASE$ pathway gliomas (8/13 vs. 9/57, respectively; p?=?0.004).	false
+034df40cb3fdebb558effed8c8bead589ee07bf0	@DISEASE$ disc @PHENOTYPICFEATURE$ and Lyme disease.	false
+3879b90e715c076964ab5d8190bc1af80f032e66	Visual outcome in eyes with asymptomatic @DISEASE$ disc @PHENOTYPICFEATURE$.	false
+b24c51a64d580910231682983f2b7fcd44b7809d	We therefore hypothesise that in otherwise asymptomatic patients, @PHENOTYPICFEATURE$ is an additional indicator for performing MRI to detect @DISEASE$ pathway gliomas.	false
+733dfcb19963d1cd2a4358d6088690e6c439585b	Intracranial hypertension (IH) is important cause of @DISEASE$ disc @PHENOTYPICFEATURE$.	false
+c04180e1f977bed29db8dae74dde1d2eba39647d	@DISEASE$ disc @PHENOTYPICFEATURE$ may be caused by a number of conditions.	false
+48f7a52961ebfa11179e2c4071130bf5d579af17	Thiamine responsive @DISEASE$ in an adult with @PHENOTYPICFEATURE$ and optic neuropathy.	false
+0624b982de9e595a8c7b2e255d44286d73a204f4	@DISEASE$ (PDCD) is a common primary cause of defects in mitochondrial function and also can lead to @PHENOTYPICFEATURE$.	false
+e6a6df00ba952cbfcf71f1ef9aa1aa488abad835	Hitherto, however, @PHENOTYPICFEATURE$ has not been regarded as a presenting symptom of @DISEASE$.	false
+b1a87e501c51072ca4bab1ae6cc8968805989fba	Based on this observation, we suggest that @DISEASE$ should be considered in the diagnosis of @PHENOTYPICFEATURE$ in infancy, especially when associated with persistent hyperpyruvicemia, normal lactate/pyruvate molar ratios in plasma, and recurrent episodes of drowsiness and hypotonia of unknown origin.	false
+c98464134b966d0793b82f3631e9b8821bebb0cb	Compound heterozygous variants in the LARP7 gene as a cause of @DISEASE$ in a Caucasian female with significant failure to thrive, @PHENOTYPICFEATURE$, and developmental disability.	false
+387085ac85116ea6aac63a096fa98bf0cd79b93f	@DISEASE$ is a sex chromosomal aneuploidy condition characterized by tall stature, @PHENOTYPICFEATURE$, hypertelorism, congenital abnormalities, and motor and language delays.	false
+46523ee05fd6908834ce9a69cf1cd4a2fc1b883b	The differential diagnosis for this lesion included myxoid @DISEASE$, @PHENOTYPICFEATURE$, soft tissue perineurioma, low-grade malignant peripheral nerve sheath tumor and low-grade fibromyxoid sarcoma.	false
+99854d4bf9d2ece8a5a7ae3d9265addb2ed4be75	This review article presents some of the common Familial Cancer Syndromes (FCS) such as MEN 2B, @PHENOTYPICFEATURE$-jaw tumour syndrome, familial oral squamous cell carcinoma, melanoma, nasopharyngeal carcinoma, paraganglioma, @DISEASE$ and other syndromes associated with head and neck region.	false
+2e7a1f430d8fb8594c2360809ccfbc29686d25e8	Anaesthetic problems which might be encountered in patients with von Recklinghausen's disease are concomitant phaeochromocytoma, renal @PHENOTYPICFEATURE$, kyphoscoliosis, deformity of the spine, and intralaryngeal @DISEASE$.	false
+5958866d374fd6a96730fe7c06e7fb6739a5cc14	We report a 12-year-old male with @DISEASE$ caused by Streptococcus pneumoniae who presented with fever and severe right hip and @PHENOTYPICFEATURE$.	false
+0fc8971baca0da0ccb6428be306888aab0907eca	We report on a 23-year-old women suffering from a @DISEASE$ with baldness, xerodermia, kyphosis of the chest, @PHENOTYPICFEATURE$ mamillae, disturbances of the menstrual cycle, dysphonia and keratitis punctata superficialis recidivans.	false
+73a845aa0826ca57cc00ee788f06cbc7c9aa422e	A glioma can develop into a very @PHENOTYPICFEATURE$ tumor, the @DISEASE$ (GBM), characterized by a highly heterogeneous cell population (including tumor stem cells), extensive proliferation and migration.	false
+079f627f27d85ebfbbda8b492d3ed8a3d616719a	@DISEASE$ is the most aggressive primary @PHENOTYPICFEATURE$.	false
+e456e5da30f81a672d8eae1a3f229264fc7c7c14	microRNA expression profiles from 197 glioblastomas were analyzed to identify the candidate miRNAs that are correlated to @DISEASE$ @PHENOTYPICFEATURE$.	false
+90871d40dfd5a02dafea073db05bfd2d730d5bec	@DISEASE$ (GBM) is a primary neuroepithelial @PHENOTYPICFEATURE$, characterized by an extremely aggressive clinical phenotype.	false
+750df9eca792569e2bdf7811d9226903f9f525c6	@DISEASE$ (GBM) is the most common and @PHENOTYPICFEATURE$ brain tumor with poor clinical outcome.	false
+7684823b0bc85e2c737fba646f5fe3bd0be89c26	Here we show that miR-29a activates a multi-faceted growth and invasion program that promotes @DISEASE$ @PHENOTYPICFEATURE$.	false
+f4eb9937d382c3cd598bb246a5b40d0997a191d3	@DISEASE$ (GBM) is a highly vascularized and @PHENOTYPICFEATURE$ brain tumor.	false
+970a0aec043d9ab0147f95e4c5ad7a301f4dba04	Thin @DISEASE$ nephropathy: premature glomerular obsolescence is associated with @PHENOTYPICFEATURE$ and late onset renal failure.	false
+d65e604bb2a23b8269001a451a340dfe2c1c4b41	Thin glomerular basement membrane (@DISEASE$) nephropathy, also called familial benign @PHENOTYPICFEATURE$, is characterized by chronic hematuria and uniform thinning of the lamina densa of the glomerular basement membrane.	false
+b1bb76d53cd1f39c074f16c69d69ab2c5e97528b	@DISEASE$ (GBM) is a fatal @PHENOTYPICFEATURE$, in which a substantial number of non-tumoral infiltrated cells can be found.	false
+9518c5c70ff09ef1e0242bcf1e3dd010a508b016	Bardet-Biedl Syndrome (@DISEASE$) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, @PHENOTYPICFEATURE$ and learning difficulties.	false
+80ab8db266d1e6a021667d0035687c6b9ea65073	@DISEASE$ (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, @PHENOTYPICFEATURE$ and learning difficulties.	false
+37b64101c1375985b9500256ee8951c0e477a731	We present herein two sisters with @DISEASE$, one of whom also had @PHENOTYPICFEATURE$ and cerebral and cerebellar atrophy, and both of whom had ocular abnormalities in the form of epicanthus and telecanthus and metabolic syndrome.	false
+68b6fe273cc2d85b48e0e2b478a2faa66d239fa6	Recently, cilia-related gene deficiencies have been implicated in several congenital disorders that exhibit @PHENOTYPICFEATURE$ such as Joubert syndrome, Meckel-Gruber syndrome, @DISEASE$, and Orofaciodigital syndrome.	false
+a2013dc3053147a6d69b6d32e75640dc598a3622	It should also be emphasized that the occurrence of cerebellar involvement such as @PHENOTYPICFEATURE$ and cerebellar atrophy in @DISEASE$ is very unusual.	false
+599637a399944a08880f8b0c09d67557450ae15e	We describe three additional cases with BBS and cerebral abnormalities and focus on @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a753c7be33adf0d48e7ced58836f8bacc629f85f	We describe three additional cases with @DISEASE$ and cerebral abnormalities and focus on @PHENOTYPICFEATURE$ in BBS.	false
+bfd09bdb207ddf8e4d99189ccf5fd41dc8b8c8c7	Other clinical signs and symptoms of @DISEASE$ are: polydactyly, hypertension, hyperlipidemia, @PHENOTYPICFEATURE$, intellectual disability, rod-cone dystrophy, genitourinary and renal abnormalities.	false
+319ccb5830714dc8c80850689312d664b6d20036	Adult affected individuals did not show any renal or @PHENOTYPICFEATURE$, obesity, mental retardation or learning difficulties and did thus not fulfill the proposed clinical diagnostic criteria for @DISEASE$.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+83a9fccdb83324a26f3c560fec3c444cf455b32e	@PHENOTYPICFEATURE$ in females with @DISEASE$.	false
+5c0811776420afa17ac4f6ea57a55c4258c60157	We report a patient exhibiting characteristic features of @DISEASE$ in addition to @PHENOTYPICFEATURE$ and mega cisterna magna.	false
+5947f340cad5bb57f07aab08cefa4c243a723e89	3-D US showed a high association with gold standard @DISEASE$ for the preoperative assessment of breast volume and the histopathological measurement of @PHENOTYPICFEATURE$ volume.	false
+119fd9670e83f594195f1fcc0a8b95e516a28dea	We studied a boy with the ocular features of the @DISEASE$, @PHENOTYPICFEATURE$, and redundancy of the periumbilical skin.	false
+5ef060fdb5e7cfd2db1fa297d7d140ce36557948	Our observation further strengthens the notion that @DISEASE$ associated with @PHENOTYPICFEATURE$ is not a chance event.	false
+9e059bf1e3440c290dab1bc6276cef50d64c84be	@DISEASE$ associated with @PHENOTYPICFEATURE$: a case report.	false
+57f079d46e62f50a7eca820216909240d630be84	Congenital @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and Down's syndrome.	false
+dcd19581beca54e5421fe234831d0f13e413dbe4	@PHENOTYPICFEATURE$ in @DISEASE$ due to a novel FOXC1 mutation.	false
+019a8c3164a47d16479f011ca7ba4199f5f49568	The joint occurrence of Peter's anomaly, congenital central deep @PHENOTYPICFEATURE$ with an enterior cone-shaped polar cataract, and @DISEASE$, hypoplasia of iris stroma, dyscoria, and iridocorneal adhesions in the angle of the anterior chamber, is described.	false
+cdd51e28ec3cee6799f8ff5e2bfb4bbef093f117	The aim of this presentation was to report a case with @DISEASE$ (ARS) associated with @PHENOTYPICFEATURE$ (TA).	false
+9a174f9ec2336c3add46f87640578b246cbb5253	To our knowledge, the combination of @PHENOTYPICFEATURE$ with @DISEASE$ in siblings has not been reported previously.	false
+8379b7ae48282a0eab353dc4080be77cb478f0ba	It has been suggested by some investigators that the coexistence of @DISEASE$ and @PHENOTYPICFEATURE$ is not a chance event but it represents a distinct entity.	false
+150c052d077fe4181358db44013678f5e82325d1	@PHENOTYPICFEATURE$ in two siblings in an @DISEASE$ family.	false
+3cda695c6245ab431da0182325787b2f6192a7a3	The patient, in remission from primary cervical and @DISEASE$, presented with complaints of left eye @PHENOTYPICFEATURE$ and pain.	false
+46ffcaee6128a550855f150035158ab39a7194da	In females, breast cancer has the highest incidence followed by cancer of the cervix, @PHENOTYPICFEATURE$, and @DISEASE$ and thyroid.	false
+aa4aedcc8cbd7ec9a1875cfd046a3e61fcf68672	[Paraneoplastic syndrome (fever, @PHENOTYPICFEATURE$, migrating thrombophlebitis) in @DISEASE$].	false
+de9971a4bbac904ee17027bdd715c291aeb53a6f	A 62-year-old woman with @DISEASE$ developed bilateral interstitial @PHENOTYPICFEATURE$ and panuveitis accompanied by bilateral sensorineural hearing loss and chondritis.	false
+8615397e01cd271f2f5254d1d87abb2ef6c88dc8	Profound @PHENOTYPICFEATURE$ after one cycle of intraperitoneal cisplatin in treatment of advanced @DISEASE$.	false
+314c98e7a323a4c840dd7b8cce2c1a46c3e80c1e	Primary peritoneal serous papillary carcinoma presenting as a large mesenteric mass mistaken for @DISEASE$: a case of @PHENOTYPICFEATURE$.	false
+1558c203f10d92c489d0dbbf2f57222441ffb16c	More than 20 years after its approval by the Food and Drug Administration (FDA), liposomal doxorubicin (DOX) is still the drug of choice for the treatment of breast cancer and other conditions such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+25a2b53998535eaf69acd7af6ffe483f5f7a625e	Furthermore, @DISEASE$ is often associated with tumor @PHENOTYPICFEATURE$.	false
+14233fb1f8848e5bcefd3661afe5c7123167274a	A case of a middle aged woman with @PHENOTYPICFEATURE$, ascites, and a pleural effusion is presented where a clinical diagnosis of @DISEASE$ was made.	false
+876d55755a6247e315290acce28125b470b03258	As other solid tumours like papillary thyroid cancer, colorectal cancer, @PHENOTYPICFEATURE$, and @DISEASE$ likewise harbour BRAF mutation, vemurafenib is also tested in these entities.	false
+6ba117cf7945195412f09e6c871dba32a5b8b790	In addition, she had bilateral @PHENOTYPICFEATURE$, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of @DISEASE$ type IX.	false
+4ef3c162901808b2e5df35ff9445e9e05c1c9f8a	The study of two X-linked dominant male-lethal disorders, such as the @PHENOTYPICFEATURE$ with linear skin lesions (MLS) syndrome and the oral-facial-digital type I (@DISEASE$) syndrome, offers the opportunity to discuss this intriguing topic.	false
+e098a478ef8113f3f99503c830e8e27b97ae2c13	We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (@DISEASE$) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and @PHENOTYPICFEATURE$ of the right foot respectively.	false
+cf2ad27c5d8c636991262779b862b21a68ea2aa0	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+60932ac7646342fa9e966a2174f542cfae8fdac7	The oral-facial-digital (@DISEASE$) syndromes comprise a group of related disorders with a combination of oral, facial and @PHENOTYPICFEATURE$.	false
+71cb06302e1172392d7e2c11891e548fb92e9635	Oral-facial-digital (@DISEASE$) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and @PHENOTYPICFEATURE$.	false
+43e0899f2f5826739f91e7c33f520ca77b15568c	His brother, Patient 2, had @DISEASE$ features with @PHENOTYPICFEATURE$ and normal psychomental development.	false
+911af9923543fcd2109d84103f76ae12c4954342	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+b7356e103808bfbf6b93b7c9e02382f5aa5dc0a4	Alterations in renal renin gene expression have been reported in pathophysiological states, such as salt depletion, diabetes mellitus, @PHENOTYPICFEATURE$, @DISEASE$, and with high protein feeding.	false
+61ffb2b1ca958fa0199ee7354db6d944e8e11f0b	Gitelman's syndrome, or congenital hypokalemic hypomagnesemic hypocalciuria with metabolic alkalosis, is widely described as a benign or milder variant of @DISEASE$ and most commonly presents with transient periods of weakness and fatigue, presyncope, vertigo, @PHENOTYPICFEATURE$, and blurred vision, though aborted sudden cardiac death has also been rarely reported.	false
+b89473802577b028733d3c14fc0df390808522f9	The functional importance of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME)/epilepsy, @PHENOTYPICFEATURE$, sensorineural deafness, and renal tubulopathy (EAST) syndrome, a complex disorder that includes salt wasting and @DISEASE$.	false
+ba7557d93b370c4c608b316c5444f2f81cfcf7aa	These include the human disorders of episodic ataxia with myokymia, long QT syndrome and @DISEASE$, and weaver @PHENOTYPICFEATURE$ in mice.	false
+f63fa3fb62660b5e71f2447a0eb6e6deecc4040c	Abnormalities of renal prostaglandins are evident in various clinical disorders of renal function including hypertension, @PHENOTYPICFEATURE$, @DISEASE$, hypokalemic nephropathy and drug-induced disorders of water metabolism.	false
+17d9f411d2493a785828e490a0d89707bda7121b	We describe a 20-year-old man with tyrosinase-negative oculocutaneous albinism, mental retardation, epilepsy, sensorineural deafness, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2f1c2e4cb01941897163ebb5cd692ad1d20d1901	Here, the authors report the case of a 2-year-old boy with infantile @DISEASE$ who presented on the third day of life with intractable @PHENOTYPICFEATURE$.	false
+6eccb8887860f01c796e7f7b23f68db5d321d977	However, ischemic brain tissue changes such as cytotoxic @PHENOTYPICFEATURE$, in which cellular swelling decreases the fractional volume of the extracellular space, would be expected to significantly alter the distribution of neuroprotective agents delivered by @DISEASE$.	false
+26fcb92ef9c9ee58954b4fda2e380b19897d7cc6	We report on a 27-month-old Caucasian girl with @DISEASE$, pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis.	false
+334cb6232c35021c957451853d52c3e6f36d5ca5	In this study the scientific literature on cumulative effective dose (@DISEASE$) of radiation accrued from medical imaging among specific cohorts of paediatric, non-oncologic chronic patients (inflammatory bowel disease, cystic fibrosis, congenital heart disease, shunt-treated hydrocephalus, hemophilia, @PHENOTYPICFEATURE$) was systematically reviewed.	false
+8c7a709343960f2daaa0c17abb6cbd4deac1b907	To investigate effects of local tissue pathology and associated @PHENOTYPICFEATURE$ on infusate distribution, @DISEASE$ was applied to the hippocampi of rats that underwent electrically-induced, self-sustaining status epilepticus (SE), a prolonged seizure.	false
+d70bcc0717c2e9d1b16c29875ef5cd9135564f4f	Increasing muscular atrophy and joint instability in the post-polio syndrome (@DISEASE$) leads to muscle and @PHENOTYPICFEATURE$.	false
+c415cdb695f71677a92ae0ccd5ce7d7795318c69	Increasing @PHENOTYPICFEATURE$ and joint instability in the post-polio syndrome (@DISEASE$) leads to muscle and joint pain.	false
+9ffe78b5b146aa60c4d25f1c042e1ca84b44db50	Our present work exhibited that @DISEASE$ had therapeutic effects on smoke inhalation injury reflected by significant increase of PaO2 values, improved @PHENOTYPICFEATURE$ status, decreased vascular permeability, amelioration of lung histopathology, and reduction of inflammatory response.	false
+a279fb27c5291d0826d3502e935bcf1dd0f235ba	Substitution of Cl(-) by either LB, SAP, or @DISEASE$ decreased reperfusion @PHENOTYPICFEATURE$ in a Cl(-) concentration-dependent fashion.	false
+5006f08799be15f365d32374c03295ee8f9be815	We report the case of @DISEASE$ in a patient, 40 years, that thirty-five years after had had paralytic poliomyelitis, developed new symptoms of fatigue, @PHENOTYPICFEATURE$, dyspnea, difficulties in deambulation and muscular and joint pain.	false
+81de4b51fb670e8ff152ec97264c01cf7cb527b1	More than 15 years following a diagnosis of poliomyelitis, a new onset of weakness, fatigue, @PHENOTYPICFEATURE$, decreased endurance, muscle atrophy, gait disturbance, respiratory and swallowing problems, cold intolerance, and difficulties with activities of daily living might indicate a neurologic disorder called @DISEASE$.	false
+83a2aa8664f1aa5f05db49f22c7a25a81510514c	More than 15 years following a diagnosis of poliomyelitis, a new onset of weakness, fatigue, joint pain, decreased endurance, @PHENOTYPICFEATURE$, gait disturbance, respiratory and swallowing problems, cold intolerance, and difficulties with activities of daily living might indicate a neurologic disorder called @DISEASE$.	false
+6b45d7c5f5bdb550ff69d83b770bceb712547e43	The main symptoms of @DISEASE$ are slowly progressive muscle limbs paresis with @PHENOTYPICFEATURE$, joints pain, paresthesia.	false
+e2cd11cf947233b15c02220fe5b95f0c6846054e	The main symptoms of @DISEASE$ are slowly progressive muscle limbs paresis with muscle atrophy, @PHENOTYPICFEATURE$, paresthesia.	false
+96be9d9f6a3baaa782904c38523fa8ff25d85306	Postoperative @PHENOTYPICFEATURE$ and effusion (POEE) following cardiopulmonary bypass (CPB) surgery in children retards recovery and may aggravate postpericardiotomy (@DISEASE$), capillary leak syndrome (CLS), or multiorgan failure (MOF).	false
+9005396b2954092f511891f2a3b6cd9376a2307b	In three individual @DISEASE$ patients, a decline in muscle strength on the follow-up study was documented, providing the diagnosis of post-poliomyelitis @PHENOTYPICFEATURE$ (PPMA).	false
+5fb94cea1ef32c3e8fdccbdb5ac8bdf67d96fc95	Patients who have been affected by poliomyelitis may develop new symptoms such as muscle weakness, @PHENOTYPICFEATURE$, muscle or joint pain, and unexplained fatigue several decades after the onset of their poliomyelitis (post-polio syndrome [@DISEASE$]).	false
+fb994c6c4e2b38c0f0d4db39c88cd9496f3cb012	Patients who have been affected by poliomyelitis may develop new symptoms such as muscle weakness, muscle atrophy, muscle or @PHENOTYPICFEATURE$, and unexplained fatigue several decades after the onset of their poliomyelitis (post-polio syndrome [@DISEASE$]).	false
+98d36c18e252ceb2fcccfdb733a4e00e505a2670	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including @PHENOTYPICFEATURE$, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.	false
+abfcf1f08112ff72f260eee86ef4facc2923e5e4	Twenty-nine adults (18 with @DISEASE$ with other @PHENOTYPICFEATURE$, and 2 healthy controls) were videotaped while undergoing neurological examination and during the process of collecting information on the history of their condition.	false
+cd4bee11dc1fb6b63f086806a8e8e0450937d0b1	@DISEASE$ (POTS) is characterized by symptoms of lightheadedness, fatigue, and signs of @PHENOTYPICFEATURE$, acrocyanosis, and exaggerated tachycardia within 10 minutes of upright posture.	false
+c15c3f890bae3c2a68be6cd5ef2f2afa2ce3fc67	Immediately after sympatholysis, the patient experienced resolution of both craniofacial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a6ed2df7427790f61729d8d38282d2b4ba93863b	@DISEASE$ (POTS) is an @PHENOTYPICFEATURE$ response to a positional change.	false
+4045803800bcc617dbdfe93e7e7fcab08d58534f	@DISEASE$ is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in @PHENOTYPICFEATURE$, bilateral renal cystic dysplasia and malformations of hands and feet.	false
+065533fdfba6cbde8edc9f00d90d541d7a933e7f	We found 14 neural tube defects (nine @PHENOTYPICFEATURE$, four anencephaly, one @DISEASE$), four abdominal wall defects, two tumors, and eight normal examinations.	false
+d19e23aafd5bff9b8a062054d4745ed253b268c2	Very few studies have been published on how to treat children with @DISEASE$ (MPGN I), and as yet there is only one report on the use of mycophenolate mofetil (MMF) in children with MPGN I. We report a 12-year-old boy who presented with @PHENOTYPICFEATURE$, hypertension, nephrotic range proteinuria, and microscopic hematuria following an upper respiratory tract infection.	false
+95935ed74bb7cd221c4eb5ca11f808999c44dd83	Miller Dieker syndrome (@DISEASE$, type I lissencephaly) is a @PHENOTYPICFEATURE$, which is caused by deletions along the short arm of chromosome 17 (17p13.3).	false
+1c8317cd2d65f89ef9dd06b07a39a16ee34080b5	@DISEASE$ (MDS, type I lissencephaly) is a @PHENOTYPICFEATURE$, which is caused by deletions along the short arm of chromosome 17 (17p13.3).	false
+1a8034b4cd9902a6ad530cbe88de78ac80340c04	Patients with non-cystic fibrosis @DISEASE$ may be predisposed to @PHENOTYPICFEATURE$ during sleep, or to symptoms that may lead to arousals and thereby reduce the quality of life, because of the irreversible dilation of the bronchi and the presence of secretions and airflow obstruction.	false
+4125d40caebcadb6ff195554e905b2897d456d4a	To the best of our knowledge, this is the first case published in the Brazilian literature of @DISEASE$ associated with Becker's nevus, ipsilateral @PHENOTYPICFEATURE$ and scoliosis in a 14-year-old girl.	false
+65289f731a3e4dca94b3195c3dd88f58e47979f6	The @DISEASE$ is defined by the association of a Becker's nevus with ipsilateral @PHENOTYPICFEATURE$ and/or musculoskeletal disorders.	false
+0b948fd425fbb18323e6164d0f9c604b802c5bc3	@DISEASE$ is the association of Becker's nevus with @PHENOTYPICFEATURE$ and other ipsilateral bone or muscle changes.	false
+20cb9cbb627ef05fe54d2d2e442ffcafb82c734f	@DISEASE$ presented with ipsilateral @PHENOTYPICFEATURE$.	false
+3335ab0360c46d03236a27aaa05c322f04359117	We present 4 cases of @DISEASE$ in which Becker nevus was associated with ipsilateral @PHENOTYPICFEATURE$ and, less consistently, other abnormalities.	false
+5cdde22a496009f42a74f2e9d8a15c15f371397c	We present two clinical cases of @DISEASE$ with thoracic nevus and ipsilateral @PHENOTYPICFEATURE$ treated with lipofilling alone (fat grafting).	false
+1956ac8dad1e0ca7907a0589299abd3d0d88bc6b	The new term @DISEASE$ is proposed for a phenotype characterized by the presence of a particular type of organoid epithelial nevus showing hyperpigmentation, increased hairiness and hamartomatous augmentation of smooth muscle fibers, and other developmental defects such as ipsilateral hypoplasia of breast and @PHENOTYPICFEATURE$ including scoliosis, spina bifida occulta, or ipsilateral hypoplasia of a limb.	false
+d7ebbfa8eaf705492b411db9f1b5526d964073e8	Thirty-seven patients with 38 @DISEASE$ @PHENOTYPICFEATURE$ were enrolled.	false
+3b1f44fdd9dfc6461ed25fbe27f5b03dca9f9514	Moreover, PEGPH20 triggered fenestrations and interendothelial junctional gaps in @DISEASE$ tumour endothelia and promoted a @PHENOTYPICFEATURE$-specific increase in macromolecular permeability.	false
+260bd906047bba18d4abd878720ea9aa24362737	Moreover, PEGPH20 triggered fenestrations and interendothelial junctional gaps in @DISEASE$ @PHENOTYPICFEATURE$ endothelia and promoted a tumour-specific increase in macromolecular permeability.	false
+626f909c62149663e918ed907fec40e72d88d945	Thus, metabolic status of @DISEASE$ @PHENOTYPICFEATURE$ is an important determinant of the immunosuppressive environment.	false
+30c8b6b2770ece2f5cb2e4388614be77a53afb1c	Awareness of the association of @DISEASE$ and pancreatic @PHENOTYPICFEATURE$ is fundamental in order to develop personalised follow-up programmes.	false
+50471860b3c79c0a7e486e3047f691bc2dccf60d	Surgery was performed and gross examination revealed @DISEASE$ with a @PHENOTYPICFEATURE$ developed around the Wirsung duct.	false
+c2ea1c48d7b9198d4ccc5fde5cac3c17153b7dc7	dPA, @DISEASE$) @PHENOTYPICFEATURE$ promoters.	false
+b09d2cdf17e685a326b6e5ca8ced1042af354b30	This approach induced significant @PHENOTYPICFEATURE$ regression in mice engrafted with highly aggressive and immunosuppressive @DISEASE$ tumors.	false
+655207c9f76a8ce4613be598c2aed4b41b3106a4	This approach induced significant tumor regression in mice engrafted with highly aggressive and immunosuppressive @DISEASE$ @PHENOTYPICFEATURE$.	false
+d377b2b3b061f3126c0abdc7e2941e81f0f0556f	Moreover, a MRTF signature is correlated with a Th2 cell signature in human @DISEASE$ @PHENOTYPICFEATURE$.	false
+a721615e42da136053786195f686e2614d763da1	Both groups had similar preoperative/@PHENOTYPICFEATURE$ characteristics, and 27 of 28 @DISEASE$ patients received neoadjuvant chemotherapy.	false
+4e05918391f4ccf7f1b2363e4f7bafdaf6731fed	These data indicate that hypoxia-induced EMT occurs in @DISEASE$ and several other @PHENOTYPICFEATURE$ entities.	false
+d8cfa8bbaa55ff5a0009c185a7c73044f574b953	A 64-year-old man with @DISEASE$ developed unilateral @PHENOTYPICFEATURE$, proptosis, complete ophthalmoplegia, and facial paresis.	false
+f2ad02683775b0f239083f0e35af28f7c5ddd10b	This case suggests that ischemic damage of the retina due to the great viscosity of blood may be a possible mechanism of monocular @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a9dfd480e5bc18ca53714f23c7e9c8fd0f58fc1e	Clinicians should be aware that isolated monocular @PHENOTYPICFEATURE$ may be an initial manifestation of @DISEASE$, since if untreated, polycythemia vera carries a high risk of permanent complications due to intravascular thrombosis.	false
+8a9e4d15e638de416bc051bf1cfe61437a30fbe3	For essential thrombocythemia, reported risk factors for leukemic transformation include advanced age, extreme thrombocytosis, @PHENOTYPICFEATURE$, leukocytosis, and sequence variants/mutations involving TP53 and EZH2 (for expansion of gene symbols, see www.genenames.org); for @DISEASE$, advanced age, leukocytosis, abnormal karyotype, mutations involving SRSF2 and IDH2, and treatment with pipobroman, chlorambucil, or P32; and for PMF, increased blast percentage, thrombocytopenia, abnormal karyotype, triple-negative driver mutational status, and sequence variants/mutations involving SRSF2, RUNX1, CEBPA, and SH2B3.	false
+dad804ee8675df11945cc85d3dbe33cac30132e2	Progressive @PHENOTYPICFEATURE$ and left upper quadrant pain in a patient with @DISEASE$.	false
+4a119e7b9acb58c792b9d9abee695dea6f876538	Although essentially different in clinical presentation - patients with ?-thalassemia have an impairment in ?-globin synthesis leading to defective erythrocytes and @PHENOTYPICFEATURE$, while patients with @DISEASE$ present with high hemoglobin levels because of excessive red blood cell synthesis - both pathologies may characterized by lasting high erythropoietic activity, i.e. chronic stress erythropoiesis.	false
+f35c2c0b2ae0dc8ef6f43e6ef61eb7a643578338	Seven drugs are used in the treatment of non-malignancies: baricitinib, rheumatoid arthritis; fostamatinib, chronic immune thrombocytopenia; ruxolitinib, myelofibrosis and @DISEASE$; nintedanib, idiopathic pulmonary fibrosis; sirolimus, renal graft vs. host disease; netarsudil, @PHENOTYPICFEATURE$; tofacitinib, rheumatoid arthritis, Crohn disease, and ulcerative colitis.	false
+23376b0215e4c26568c04f18e7927bd74e60e0bb	Systemic mast cell disease (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, @PHENOTYPICFEATURE$, @DISEASE$, hepatosplenomegaly and lymphadenopathy.	false
+631e592634864c9801903b4a46a215157df9d03f	Bone marrow aspirates were obtained as part of a routine diagnostic programme in bone marrow donors or in patients presenting with a variety of diagnoses such as unexplained gammopathy, @PHENOTYPICFEATURE$, anaemia, other changes in peripheral blood smear, rheumatoid arthritis, vasculitis, or @DISEASE$.	false
+37422e78ef212409858a3d32a20bcb55355dcc61	It correlates positively with @DISEASE$, @PHENOTYPICFEATURE$ size and staging, MELD score and Child-Pugh score.	false
+190a6a5bbc0c5f384ff4b0ebf42c39a79f2143ab	The mean diameter (MTD) of larger MTD, low @DISEASE$ @PHENOTYPICFEATURE$ was 8.4cm.	false
+169b361f5a0ba9a8f1a07dd9326f3993aa502ae1	We hypothesize that AFP+ and @DISEASE$- @PHENOTYPICFEATURE$ differ biologically.	false
+226a147938568f3221d89a4df054b8c88fcf1cc7	Some @PHENOTYPICFEATURE$ that were negative for CEA and @DISEASE$ were strongly positive for GP68.	false
+bdfe5921ad787a2ea2f34c86094ef3041aad0e29	Charlson index, @DISEASE$-negative @PHENOTYPICFEATURE$ and CLIP score were equally distributed in both groups.	false
+cd9c9b0dafe3ac0247f8074431e299aaa82734f1	In the model system, it was demonstrated that tumour @DISEASE$ concentration was reflected by AFP titres in the blood, but that @PHENOTYPICFEATURE$ AFP (or blood AFP) did not correlate well with tumour size.	false
+9ecc408ae404ddf61c22a247858f9e401f9d98e8	In the model system, it was demonstrated that tumour AFP concentration was reflected by AFP titres in the blood, but that tumour @DISEASE$ (or blood AFP) did not correlate well with @PHENOTYPICFEATURE$ size.	false
+6de5c1415972f9b71491e6d017e137afdf3e34a7	In the model system, it was demonstrated that @PHENOTYPICFEATURE$ AFP concentration was reflected by AFP titres in the blood, but that tumour @DISEASE$ (or blood AFP) did not correlate well with tumour size.	false
+3df59c132d69b9234b8129c363033a6316d65e74	In the model system, it was demonstrated that tumour AFP concentration was reflected by AFP titres in the blood, but that @PHENOTYPICFEATURE$ @DISEASE$ (or blood AFP) did not correlate well with tumour size.	false
+28c90f422782479b2ae9528742601a8321b20101	In the model system, it was demonstrated that tumour @DISEASE$ concentration was reflected by AFP titres in the blood, but that tumour AFP (or blood AFP) did not correlate well with @PHENOTYPICFEATURE$ size.	false
+b63ea821a355ea7e9668b276ff777d26fe0a3a58	In the model system, it was demonstrated that @PHENOTYPICFEATURE$ @DISEASE$ concentration was reflected by AFP titres in the blood, but that tumour AFP (or blood AFP) did not correlate well with tumour size.	false
+ebe6ed9589ad90e16d4b39d79aca5797496ce478	PIVKA-II had no correlation with @DISEASE$, AFP-L3 or @PHENOTYPICFEATURE$ characteristics.	false
+3ab3258cf56fd3cf71915416d9601c5be1f19888	However, @PHENOTYPICFEATURE$ markers including @DISEASE$ were not elevated.	false
+c090434bf33c3ffb4cdf57417e105214108038c4	[Seminoma - high @DISEASE$ serum levels - probably retroperitoneal @PHENOTYPICFEATURE$ components].	false
+76ab52a3ad694446fa58a241620b779c630dc9de	Two courses of chemotherapy resulted in normalization of her @DISEASE$ level and marked @PHENOTYPICFEATURE$ shrinkage.	false
+22f203745d51f348120ac5d57595dfc1d4ef9425	Intracranial calcification and @PHENOTYPICFEATURE$ mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and @DISEASE$-like lesion.	false
+a8f7ec0f5ca658414a25954496dda1d13f20cb8e	Hepatic @PHENOTYPICFEATURE$ developed in all CFD- and @DISEASE$-fed rats.	false
+51ade94f6eb61c8b5a5ab9ec9863e1259bbdb290	Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by @DISEASE$, focal-segmental glomerulosclerosis (FSGS), T-cell immunodeficiency and @PHENOTYPICFEATURE$ is caused by defects in the SMARCAL1 gene.	false
+f61d511d902844bee6edf1790db80397708e6f95	Roifman syndrome is a constellation of antibody deficiency, @DISEASE$, @PHENOTYPICFEATURE$, growth retardation, and retinal dystrophy.	false
+7929db31e1ae99bee570573417875f1870b05f40	Severe SIOD was diagnosed in an 8-year-old boy, who exhibited growth failure, recurrent infection, neutropaenia, @DISEASE$, focal segmental glomerulosclerosis, T cell immunodeficiency and @PHENOTYPICFEATURE$.	false
+392b207d92f4c64d37550db73d472a9522aa7ddf	Acromesomelic-@DISEASE$ associated with congenital @PHENOTYPICFEATURE$: report of a family.	false
+37c7293647e9be9323818898263c820547ac84f5	Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of @DISEASE$ with microcephaly, @PHENOTYPICFEATURE$ and moderate developmental delay.	false
+ce5703b900c2444c44752b74e20523003465a30b	This rare, autosomal recessive osteochondrodysplasia is characterised by @DISEASE$, @PHENOTYPICFEATURE$, T-cell immunodeficiency and progressive renal failure due to focal segmental glomerulosclerosis.	false
+af0b2264c9e717af946814d565d929c3204853a3	Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, @DISEASE$, retinal dystrophy and characteristic @PHENOTYPICFEATURE$.	false
+7cf681f784351e654e0927bfd1b479d5bd9f9fa1	We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and @DISEASE$ in two members (a man and his daughter) associated with congenital @PHENOTYPICFEATURE$ in four generations.	false
+d3f51ee3811faa9aef7cfcbdeec346e08023957f	Schimke immuno-osseous dysplasia (SIOD) is a rare, severe, autosomal recessive disorder that results in @DISEASE$, renal dysfunction, immunodeficiency, @PHENOTYPICFEATURE$ and growth failure.	false
+3a21dba234ffdb6a495188134b046eb888c71756	Infection of pregnant women with T. gondii can cause ocular and neurological lesions in newborns, and @DISEASE$ has been associated with schizophrenia, epilepsy, @PHENOTYPICFEATURE$, and Alzheimer's disease.	false
+5f9aa201c26cad08ddb6043f6c2522bcd43a2743	@DISEASE$ (SEDC) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, abnormal epiphyses, and flattened vertebral bodies.	false
+559b7d398b597e07975ee24ef2e58469500192f5	@DISEASE$ (SEDC) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies.	false
+a02be057784a834d7c798335e1c376eef91578fa	Functional outcomes were poor in coxa vara associated with poor epiphyseal development (nonossified or fragmented epiphysis) as seen in @DISEASE$, @PHENOTYPICFEATURE$, Kniest disease, and multiple epiphyseal dysplasia.	false
+4719777b8abf05e385a859f82e358fe9fb5e6a04	Preoperative anteroposterior pelvic radiographs of 30 children with @DISEASE$ and @PHENOTYPICFEATURE$ were used to test the reliability of a new radiographic measure of coxa vara, the Hilgenreiner-trochanteric angle.	false
+c24a004e47f630d8fe89ef15e30e153e3610f149	They include achondrogenesis type II, hypochondrogenesis, @DISEASE$, @PHENOTYPICFEATURE$, Kniest dysplasia, and Stickler syndrome.	false
+5f9aa201c26cad08ddb6043f6c2522bcd43a2743	@DISEASE$ (SEDC) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, abnormal epiphyses, and flattened vertebral bodies.	false
+e7d9a651171d261563e66972eb067e7657d6c435	Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like @DISEASE$, @PHENOTYPICFEATURE$ congenita, Marshall syndrome, to the mild forms--Stickler syndrome and early osteoarthritis.	false
+9d5a0fcc438f3b2522fb3861d854291adcce65b9	[@DISEASE$--an autosomal dominant hereditary @PHENOTYPICFEATURE$].	false
+4276795d3499fbb7487c9ca9b0b7fe95b0d388da	We undertook a clinical trial of growth hormone (GH) therapy for patients with @PHENOTYPICFEATURE$ accompanying severe short stature caused by achondroplasia (ACH), hypochondroplasia (HCH), pseudoachondroplasia (PSACH), @DISEASE$ (SED), or Schmid type metaphyseal dysplasia (MD).	false
+b36f60f691b18941bd749daed1276652aeae3f90	Impairments of endothelin receptor B (Ednrb/EDNRB) cause the development of @DISEASE$ with congenital hearing loss, @PHENOTYPICFEATURE$, and megacolon disease in mice and humans.	false
+fc14b3dcb631b52aa444a260bd6676df6e47c571	We describe an unique patient presenting with severe leukodystrophy compatible with Pelizaeus-Merzbacher disease and @PHENOTYPICFEATURE$ consistent with Charcot-Marie-Tooth disease type 1 in addition to @DISEASE$.	false
+b1ff1bcd45431bccc6460f246a14ab87a41b1ae2	This phenotype clearly overlaps with the features of the @DISEASE$, comprising sensorineural deafness; @PHENOTYPICFEATURE$ of skin, hair, and irides; and HSCR.	false
+8794b998941d3ddc77db8b86a3f8ac0b55349f69	Direct regulation of the Microphthalmia promoter by Sox10 links @DISEASE$ (WS4)-associated @PHENOTYPICFEATURE$ and deafness to WS2.	false
+1eb8363a01d623e612cabfa91cbf596380936268	The WS4 mouse is an animal model for human @DISEASE$ (WS4), showing @PHENOTYPICFEATURE$, deafness and megacolon, which are caused by defects of neural crest-derived cells.	false
+442d38bc0ac61ad427eb0a19502a0f71fa30bebf	Histories of @PHENOTYPICFEATURE$, pancreatitis, @DISEASE$, smoking or alcohol use were significant predictors of AP.	false
+b14f8d2928d88fc673d302b3e31f1b8110874bd5	Hyperinsulinemia, dyslipidemia, and @PHENOTYPICFEATURE$ as risk factors for hospitalized @DISEASE$.	false
+1c5ba61fdc33012124f578b3e10d7c46f5c1b839	Diabetes, @DISEASE$, @PHENOTYPICFEATURE$, and hypertension among Hispanics in New Mexico.	false
+1dc032c26d0094707f476cec30c1ec5b271df8f5	@DISEASE$ was associated with recent pregnancy or birth control pill use (71%), @PHENOTYPICFEATURE$ (65%) and family history of gallbladder disease (47%).	false
+f3451ef4c0da90e3bb97b5a46b46234e5148f198	Gallbladder disease was associated with recent pregnancy or birth control pill use (71%), @PHENOTYPICFEATURE$ (65%) and family history of @DISEASE$ (47%).	false
+0bc23a44ebc3a9f8c45a4ec5870430e311566953	Persistent @PHENOTYPICFEATURE$ increases the risk of suffering from diabetes, cardiovascular disease, hypertension, and @DISEASE$.	false
+7fdc93a69cc37937cf4d34401e82afc5f6234aeb	The integrity of the cholecystokinin receptor gene in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8ee397b2e8df36b5b991705dc9805527b225487d	Diabetes has been hypothesized to increase the risk of gallbladder disease based on the observation that @PHENOTYPICFEATURE$ and insulin resistance are associated with @DISEASE$.	false
+d048b503fea2e1f3347dc769ca4e892710d831cc	Diabetes has been hypothesized to increase the risk of @DISEASE$ based on the observation that @PHENOTYPICFEATURE$ and insulin resistance are associated with gallbladder disease.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+21b13f5a3f8f2624c6b1eac40ab2e566c4b9a4b2	We reviewed further literature on the @PHENOTYPICFEATURE$ and @DISEASE$, in aspects of epidemiology, mechanism, pathology and prevention.	false
+bf1d089c88e92347259b9ba00d51b87f58cd094d	Special health problems of Mexican-Americans: @PHENOTYPICFEATURE$, @DISEASE$, diabetes mellitus, and cardiovascular disease.	false
+18e4af0e3212323ba74c6199a52a6ef4b45ceb95	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, @DISEASE$, episodic ataxia, hemiplegic migraine, @PHENOTYPICFEATURE$, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+28e95146b3db0fc502862d0c66e38e92f834b6a2	These include acquired neuromyotonia, episodic ataxia type-1, hereditary @PHENOTYPICFEATURE$ syndromes, @DISEASE$ and hypokalaemic periodic paralysis.	false
+454b53595fb0cb9a9d5436503421977720fd2ea0	@DISEASE$: @PHENOTYPICFEATURE$, provocation by feeding and ICTAL EEG.	false
+c10941fb9b9733e81b2cfffaf24e295f157eb1d0	KCNQx genes encode slowly activating-inactivating K+ channels, are linked to physiological signal transduction pathways, and mutations in them underlie diseases such as long QT syndrome (KCNQ1), epilepsy in adults (KCNQ2/3), @DISEASE$ in children (KCNQ3), and hearing loss or @PHENOTYPICFEATURE$ in humans (KCNQ4, but not KCNQ5).	false
+85da5fb0484b498a8b47a219a50f0465beafed5f	Machado-Joseph shoe (MJS), defined as a shoe/slipper with a deep hallux imprint at its base, and @PHENOTYPICFEATURE$/osteoma toe were two early ataxic signs in 17 of 31 patients (55%) and 24 of 31 patients (77%) with @DISEASE$ (MJD), respectively.	false
+95126a50b0cc806516a3b34f07ca20e04b2e4a82	Machado-Joseph shoe (MJS), defined as a shoe/slipper with a deep hallux imprint at its base, and @PHENOTYPICFEATURE$/osteoma toe were two early ataxic signs in 17 of 31 patients (55%) and 24 of 31 patients (77%) with Machado-Joseph disease (@DISEASE$), respectively.	false
+53b8db6b8c66f1cc2479efec9a8438ffae94bc17	The MJS plus @PHENOTYPICFEATURE$/osteoma toes may be helpful in the diagnosis of @DISEASE$ in a patient during early truncal ataxia.	false
+ee52937db33ccad1c5fc5f9b219b212d0a608982	Sleep disorders are frequent in @DISEASE$, and include restless legs syndrome, rapid eye movement sleep behavior disorder, excessive daytime sleepiness, insomnia, @PHENOTYPICFEATURE$, periodic limb movements during sleep, parasomnia, and others.	false
+7d1868deb26f61d4974a988af28fd3c7fe4d2660	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d571329ae245e8c1ea6ce89db6137d556b38238f	X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$.	false
+2ceb972088313fa5eb0a3db67dfe9bbbea03590f	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or hypohidrosis, and @DISEASE$.	false
+519a258ea7e00203b2d5c4a6ec5c7c83d8e3d95c	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and @DISEASE$.	false
+62a8fed2ca63e055ede227e0e59e22e812ed18b0	Anhidrotic ectodermal dysplasia (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, anhidrosis or @PHENOTYPICFEATURE$, and @DISEASE$.	false
+df7e1800e3480538d5658d78aed8bafd7ab3d068	Early in life, affected boys present a typical appearance, with @PHENOTYPICFEATURE$ or atrichosis, hypohidrosis or anhidrosis, and @DISEASE$ or anodontia with conical incisors.	false
+18cddf75acb8d446c2eb555d998783a537668740	Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, @PHENOTYPICFEATURE$ or anhidrosis, and @DISEASE$ or anodontia with conical incisors.	false
+36932a89c56194159b2a9002ba3708cd23f8bff7	Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or @PHENOTYPICFEATURE$, and @DISEASE$ or anodontia with conical incisors.	false
+608e32b280974af34c0577b1cd413cd35c128c7d	All three women had variable alopecia, anhidrosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bb2d307092c85013d165b2cefebbca9122613a9b	All three women had variable @PHENOTYPICFEATURE$, anhidrosis, @DISEASE$ and malar hypoplasia.	false
+3bc08b4a13f475c67f37c05ecb594c342d44d2c2	Hypohidrotic ectodermal dysplasia (HED) is characterized by severe @PHENOTYPICFEATURE$, hypotrichosis, and @DISEASE$.	false
+d09a87f8b13f733cd9a2fc3af2c0059fa768dc77	Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+02ef7b8f9c7203ce48309b84b8ccfc525eecfd70	The disease is characterized by @DISEASE$, @PHENOTYPICFEATURE$, palmoplantar keratoderma, hypoplastic nails and eyelid hydrocystomas.	false
+f1ced2f532e3285beac88f906ebcb31e67acf14d	The disease is characterized by @DISEASE$, hypotrichosis, @PHENOTYPICFEATURE$, hypoplastic nails and eyelid hydrocystomas.	false
+79be42d54a9afc856bb94cc01258aebf86a5108a	The classic triad has been established--@DISEASE$, hypotrichosis and @PHENOTYPICFEATURE$, confirmed by biopsy.	false
+cae45ecba67c8af1f2b4ae55ab4a32d6fad90788	The classic triad has been established--@DISEASE$, @PHENOTYPICFEATURE$ and anhidrosis, confirmed by biopsy.	false
+18234aeca7ab2cb54297093b34e7ad9f03e59be4	It is characterized by atrichosis or @PHENOTYPICFEATURE$, anodontia or @DISEASE$ and hypohidrosis.	false
+8cd1905e2347eaed22151dc52db3e46689aafd31	It is characterized by atrichosis or hypotrichosis, anodontia or @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c90f4657d54fd36f8dcd0379fc795aa1e69a8c24	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f7f6f15d14bd3d8f4a12f55f03af4372d1cfa7c0	Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by @PHENOTYPICFEATURE$, hypohidrosis and @DISEASE$.	false
+43645f68ed1ed76e8344f07a0119ff107d8905e7	Depending on the variety, hypohidrosis, @PHENOTYPICFEATURE$, @DISEASE$, oligodontia, and/or anodontia may be exhibited.	false
+19ff205d39b636c6debbcb755d9bbcd8a4a8679a	Depending on the variety, @PHENOTYPICFEATURE$, hypotrichosis, @DISEASE$, oligodontia, and/or anodontia may be exhibited.	false
+354ee38c5c2f0d681e406dd315339876213b9139	Our results describe the establishment of novel hESC lines from @DISEASE$ patients with a predisposition for cancer @PHENOTYPICFEATURE$.	false
+af1d9be2357dbea795efe3867b1efed0161af5d5	Estimates for NF1, NF2, @DISEASE$, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo @PHENOTYPICFEATURE$ rate for GS.	false
+190517e44acd2e4ee4c7f3f8432032628851442f	The occurrence of LP was associated with nonsustained @PHENOTYPICFEATURE$ in the older @DISEASE$ patients (P = .04).	false
+a744ba8ff786b03e5f9dce2f5639837cb4cb4b76	Intra-abdominal desmoid tumors, or mesenteric fibromatosis, are often associated with @DISEASE$ @PHENOTYPICFEATURE$ in a syndrome known as Gardner's Syndrome.	false
+4fa0c5fcb61ba46a0ab228955b49ab8e2c0d50a3	During APC mutation screening in 1,248 unrelated patients with familial adenomatous polyposis (@DISEASE$), we identified 75 cases with an assumed or confirmed de novo @PHENOTYPICFEATURE$.	false
+a25b8a935c9f42c30992704a002e7436e9f2c9c4	During APC mutation screening in 1,248 unrelated patients with @DISEASE$ (FAP), we identified 75 cases with an assumed or confirmed de novo @PHENOTYPICFEATURE$.	false
+9be5f28aca4c07e39de1e95fc8f995634c1be138	@DISEASE$ and Lynch syndrome are autosomal dominant, often with involvement of multiple family members, or can be seen in an individual arising from a de novo @PHENOTYPICFEATURE$.	false
+b6ca19d9a0482449196af2e344652e3fd3e6759e	The proportions due to de novo @PHENOTYPICFEATURE$ were: 42% (NF1); 16% (@DISEASE$); 26% (GS); 56% (NF2); and 21% (VHL).	false
+7353e15da38d6d1c4bc46524e3bd422806c19b59	The patient was in PD, @PHENOTYPICFEATURE$ and coughing, though we performed 2 @DISEASE$ therapies.	false
+d241f2c7c93b600f06365be88312c7e8e9e25156	Among 563 unrelated @DISEASE$ families with known family history, we identified 58 patients with a suspected de novo @PHENOTYPICFEATURE$ in the APC gene.	false
+a69dfb5b7fcb1896c6f528939b8df8b50604b5de	Although most patients with @DISEASE$ harbored germline mutations in APC gene, it was recently recognized that patients with clinical FAP, but without detectable pathogenic mutations, could be associated with somatic mosaic APC @PHENOTYPICFEATURE$.	false
+e9d020cc41bc1b0b51d5fa22ff9dad23c7d1d8eb	Although most patients with FAP harbored germline mutations in APC gene, it was recently recognized that patients with clinical @DISEASE$, but without detectable pathogenic mutations, could be associated with somatic mosaic APC @PHENOTYPICFEATURE$.	false
+4573f92d5981f1e556eca2481342cb2b8b31160c	To identify genes regulated by the hypoxic response and not other effects of chronic anemia, we compared expression variation in peripheral blood mononuclear cells from 13 subjects with SCD with hemoglobin SS genotype and 15 subjects with Chuvash polycythemia (@DISEASE$(R200W) homozygotes with constitutive upregulation of hypoxia-inducible factors in the absence of @PHENOTYPICFEATURE$ or hypoxia).	false
+2b2ebcce2c062e8aa960d7f89360a304ff57e8ec	We describe a 40-year-old woman with @DISEASE$, secondary chronic exudative retinal detachment, and white @PHENOTYPICFEATURE$ with consequent leukocoria.	false
+1e41ce51e9577a237763492715d1185f8d1c8a0b	@DISEASE$ (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal @PHENOTYPICFEATURE$ such as syndactyly.	false
+5c009f3ed83fe8eeee4526fef0f6e98ad99cd697	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and @DISEASE$, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal @PHENOTYPICFEATURE$ such as syndactyly.	false
+423d8025bc9e8ce1c7fa596c4c44dbf4651f0bdb	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (@DISEASE$) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+bc689c4492f3df15e2856cb94fc50d79ba830322	Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17?years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n?=?1], CLOVES [congenital lipomatosis, overgrowth, vascular malformations, epidermal nevi, spinal/@PHENOTYPICFEATURE$, scoliosis; n?=?1], and MCAP [@DISEASE$; n?=?4].	false
+e669dc6705f6ec4e55e4ad588c09702812c240c6	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (@DISEASE$) syndrome and underlines the utility of this umbrella term.	false
+f5826d598865c22da26494f91281c2cd5c96b473	In childhood, it consists of various types of @PHENOTYPICFEATURE$ combined with either slow spike-waves of the Lennox-Gastaut syndrome (LGS) or with myoclonus and 3-Hz spike-waves of myoclonic-astatic epilepsy, and continuous spike-waves in slow sleep (@DISEASE$) combined with various neuropsychological patterns including Landau-Kleffner syndrome, frontal lobe syndrome, orofacial dyspraxia, or negative myoclonus.	false
+253be81467c69a194d504b8d19fdaedae4f50991	Acute @PHENOTYPICFEATURE$ in @DISEASE$.	false
+163a0f21dbedaedfa540e58e6f1f68db763ad928	We present four patients with typical neonatal onset @DISEASE$ (NKH) who developed @PHENOTYPICFEATURE$ requiring shunting in early infancy.	false
+d746bd76b1b0f89dc1bfbd72f92f8299e1c33e88	Ventriculomegaly and @PHENOTYPICFEATURE$ are associated with loss of function of glycine decarboxylase (Gldc) in mice and in humans suffering from @DISEASE$ (NKH), a neurometabolic disorder characterised by accumulation of excess glycine.	false
+9d2ef18b32dc263ca32662bceca3305ac4fd6323	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (@DISEASE$) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	false
+6236e7d864b9152a63c3f332c070adcb3f7bc013	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7edb9400d729393119137077a516cb53cdf9dd94	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ab2d4b7f49a6e638f7782d8af32a91cda54303a2	Due to the presence of cataracts, ischemic heart disease, premature atherosclerosis, @PHENOTYPICFEATURE$ and osteoporosis, usually found in old age, @DISEASE$ can be considered a useful model of premature ageing.	false
+482da8fd645e30c8d2a91748e41a2c536332d39e	Twenty-four @DISEASE$ patients underwent clinical evaluation including general @PHENOTYPICFEATURE$ scores, pyramidal and cerebellar function scales, assessment of serum cholestanol and TMS.	false
+23adf9fd4ddc4dfe2c68eaef1c15a9d9313e9d0b	Children with @PHENOTYPICFEATURE$, @DISEASE$ or convulsive disorders seem to be particularly sensitive to atropine.	false
+d7bb1740df79398d2cb9cf5ef11e39a3ab9b2827	A toddler with @DISEASE$, @PHENOTYPICFEATURE$, hypercalciuria, medullary nephrocalcinosis and renal failure.	false
+5054deacd01c0df78dafc4a1659544f6a258a090	Here we report a case of 49, XXXXY with @DISEASE$-like @PHENOTYPICFEATURE$, who was found to have patent ductus arteriosus and hypotonia.	false
+d7bb1740df79398d2cb9cf5ef11e39a3ab9b2827	A toddler with @DISEASE$, @PHENOTYPICFEATURE$, hypercalciuria, medullary nephrocalcinosis and renal failure.	false
+e54ceaa3519b94d9c0f8918359506674e8ab2204	Concomitant @PHENOTYPICFEATURE$ and supernumerary teeth are relatively rare, and this is the first case reported in a patient with @DISEASE$.	false
+d22bf4e92cef738afe1c63d2daab562a9314abfe	Bilateral @PHENOTYPICFEATURE$ is more common than unilateral hypodontia in children with @DISEASE$: a prospective population-based study.	false
+6268870bc9eb5ffd98f645de9702d94a12a52987	Bilateral hypodontia is more common than unilateral @PHENOTYPICFEATURE$ in children with @DISEASE$: a prospective population-based study.	false
+f6a769c7d8fe5bb67c2149a53b709d0e19d07480	@PHENOTYPICFEATURE$ and other inner-ear abnormalities in patients with @DISEASE$.	false
+e6a32ccbdcfc82172becc7140c9144c115ba151a	The relationship between craniofacial development and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+b357ed8675f6bd30fdbcff028bb03220fbad0b9a	Keratoconus and @PHENOTYPICFEATURE$ were present in 8 per cent and 4 per cent of the ninety-one subjects with @DISEASE$.	false
+f3d54b72e5b923f515b85744b3e66c15f75900cb	The major types of disability were intellectual disabilities, autism, @DISEASE$, @PHENOTYPICFEATURE$, cerebral palsy, and epilepsy.	false
+63374a6578790900452b9f8f66eaf5f4e5f7f2b9	The expanding spectrum of @DISEASE$: overlap with other disorders of @PHENOTYPICFEATURE$.	false
+88dce728a182cb6e0c79479df095037115e0cad3	Sixteen cases were diagnosed as hepatoblastoma, 2 as hepatocellular carcinoma, 4 as mesenchymal hamartoma, 2 as hemangioendothelioma of infantile type, 2 were @DISEASE$ of the intrahepatic bile-ducts and one case of multiple bile-ducts @PHENOTYPICFEATURE$.	false
+22ad4cc56082e03f7c418a8b86761e9b7f6e5ae5	Sixteen cases were diagnosed as hepatoblastoma, 2 as hepatocellular carcinoma, 4 as mesenchymal @PHENOTYPICFEATURE$, 2 as hemangioendothelioma of infantile type, 2 were @DISEASE$ of the intrahepatic bile-ducts and one case of multiple bile-ducts hamartoma.	false
+0e9bdddcda9a85004b72715e41d8f1705d24c03a	Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, @DISEASE$, and nasal chondromesenchymal @PHENOTYPICFEATURE$, in addition to other rare entities.	false
+a6df66377db71fa7e1edc7db26fd6c2269ee36e0	In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nephroma, nodular dysplasia of the thyroid gland, medulloepithelioma of the iris, @DISEASE$ botryoid type, nasal epithelial @PHENOTYPICFEATURE$, pituitary blastoma, and/or pineoblastoma.	false
+2f6481101494e9d35713ddad663c9d5d2cdfafef	The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal @PHENOTYPICFEATURE$, nodular lesions of the thyroid, @DISEASE$ of the cervix, and ciliary body medulloepithelioma.	false
+624c6c475f42fa83492c83bfd75ca9cc2ec050c7	Midfacial myxomas should be differentiated from other benign and malignant tumors such as dermoid, @PHENOTYPICFEATURE$, neurofibroma, nasolacrimal duct cyst, and sarcomas in particular @DISEASE$.	false
+af22a91a9071985ec891c2dd1f9970868497b3fe	@PHENOTYPICFEATURE$ in the Fmr1-KO2 mouse model of @DISEASE$: The relevance of early life phases.	false
+d897035917f48026072ffc20590cc834dc0a05c0	Symptoms associated with @DISEASE$ include @PHENOTYPICFEATURE$, cognitive impairment, anxiety, hyperactivity, and autistic-like behavior.	false
+512b61dd4bc72505d9d69f3511fb521dfb751c1f	@DISEASE$: associated @PHENOTYPICFEATURE$ and developmental disabilities.	false
+b5a063add73905b17d6feb438d87947f5a63ebee	@DISEASE$ is an X-linked disorder characterized primarily by @PHENOTYPICFEATURE$ and moderate mental retardation.	false
+8a874bcfa962111756ae4bc20f9732c6801dfdc9	@PHENOTYPICFEATURE$ and communication deficits are a core characteristic of the @DISEASE$ (FXS) phenotype.	false
+406ec0f52a66456a234ca5cc6b7976533cf7275c	@PHENOTYPICFEATURE$ and communication deficits are a core characteristic of the fragile X syndrome (@DISEASE$) phenotype.	false
+33a94194a826c285d8636987620b2399203277cf	The presence of tic symptomatology, @PHENOTYPICFEATURE$, and @DISEASE$ has previously been reported.	false
+e474c19023abfc3f7505ee0562eae63bc825f828	Laboratorial diagnosis of @DISEASE$: experience in a sample of individuals with @PHENOTYPICFEATURE$.	false
+b99866869269625c9cab02305d5abedb72ce08e4	Social @PHENOTYPICFEATURE$ in @DISEASE$ (FXS) are characterized by social withdrawal, anxiety, and deficits in social cognition.	false
+e0e240efa5ea2870e66455992108bf4e6a10aebd	Social @PHENOTYPICFEATURE$ in Fragile X syndrome (@DISEASE$) are characterized by social withdrawal, anxiety, and deficits in social cognition.	false
+19327df40828b9a0c3c88b4a00731a6dc120b4da	Fragile X Syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ due to a mutation in the FMR1 X-linked gene.	false
+adf830905c780d055e666169d5a410dc928f23d3	@DISEASE$ (FXS) is a @PHENOTYPICFEATURE$ due to a mutation in the FMR1 X-linked gene.	false
+cac276a894f2abd66b4d6e023872c38da4962d6a	Individuals with @DISEASE$ (FXS) are cognitively impaired and have marked @PHENOTYPICFEATURE$ and deficits.	false
+5de3dfeb8ad6ddbad787312c8a0bda710820a2b6	Individuals with fragile X syndrome (@DISEASE$) are cognitively impaired and have marked @PHENOTYPICFEATURE$ and deficits.	false
+df318eb61c87c1107dc1feb660e108a8207957a8	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, @DISEASE$, Bergsma's @PHENOTYPICFEATURE$).	false
+dd6b63f09d64838181d121098930a039a5ce96f3	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous @PHENOTYPICFEATURE$, Chediak-Higashi syndrome, @DISEASE$, Bergsma's albinism).	false
+53e21adc0612f994d2446479ad3acd61782d6bc5	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous @PHENOTYPICFEATURE$, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, @DISEASE$, Bergsma's albinism).	false
+60dd5fe2dd83389dce07f5d6ac313e0f02e030a6	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, @DISEASE$, Bergsma's albinism).	false
+ae64f4b0715ecfb2947757b9e18536b5b26f1147	There are seven forms of oculo-cutaneous @PHENOTYPICFEATURE$, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, @DISEASE$, Bergsma's albinism).	false
+287ad4d6ffffe588ed676a044865e7d847d9f60f	Best's @DISEASE$ (VMD2) is an autosomal dominant @PHENOTYPICFEATURE$ for which the underlying biochemical cause is unknown.	false
+2cee49fd90826ba24e6fec214736381e3d9ee602	Although extremely rare, macular hole should be considered as a cause of the significant @PHENOTYPICFEATURE$ in patients with Best @DISEASE$.	false
+f29de6510ccfdae3161de76b606332a15175e4de	The purpose of this review is to describe this spectrum of phenotypes, which includes Best @DISEASE$ and adult-onset foveomacular vitelliform dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrophy, @PHENOTYPICFEATURE$, posterior staphyloma) syndrome, and autosomal recessive bestrophinopathy.	false
+4214c2079982633304c59d10881e8a2e3488730f	Best dystrophy (BD), also termed best @DISEASE$ (BVMD), is a juvenile-onset form of macular degeneration and can cause central @PHENOTYPICFEATURE$.	false
+96a10786a98450d08bec97f73b0b03344d2ce28f	Mutations in bestrophin-1 (Best1) cause Best @DISEASE$ (BVMD), a dominantly inherited @PHENOTYPICFEATURE$ disease.	false
+1412c3916e1afc05446a024ebf122721e3619e02	Best disease (BD), also termed Best @DISEASE$ (BVMD), is a juvenile-onset form of macular degeneration and central @PHENOTYPICFEATURE$.	false
+29f71bed5b03c5678d401e4976e054fc69eba384	@PHENOTYPICFEATURE$ in @DISEASE$ (CIDP): A case report.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+593bd71eae4d613626f366ae9a70f73fea520f31	A patient with @DISEASE$ (CIDP) presented with an isolated unilateral adduction deficit and @PHENOTYPICFEATURE$.	false
+8ce8b6d1c1197d7735eee4d9288ef6431e8d1b7b	We describe a patient with @DISEASE$ (CIDP) in which an adduction deficit and @PHENOTYPICFEATURE$ in the left eye presented several years before the polyneuropathy.	false
+8d989117b67f7917e9913082e7a01a7eb0900da6	We report five patients with history of MDS who manifested different spectrums of autoimmune phenomena including: pyoderma gangrenosum (PG), vasculitis, Coombs negative @PHENOTYPICFEATURE$, idiopathic thrombocytopenia, and @DISEASE$ (CIDP).	false
+683061272d53126d4b7c26e1055475c34b4cd3cd	This dataset showed @PHENOTYPICFEATURE$ necrosis factor-?, IFN-?, transforming growth factor-?, and IL-13 as potential upstream regulators of the serum protein patterns in the sera of patients with @DISEASE$.	false
+a6c2443e2bc094a053e5d4b077e77663e4b38951	Proteinase 3 (PR3)-antineutrophil cytoplasmic antibody (ANCA)-associated @PHENOTYPICFEATURE$ neuropathy in @DISEASE$: a rare duo.	false
+a870ddb144185421a8090e57f35dff73dc489c5e	We report here a case of a 62-year-old Caucasian woman, suffering from @DISEASE$ (SSc), who developed a @PHENOTYPICFEATURE$ calcinosis (TC) localised in the left side of the neck around the cervical spine that caused severe pain and motion impairment, without involvement of regional neurological structures.	false
+ec2167c6e44ffcc13bc2e10e2d56585c696b62ba	X-linked recessive, autosomal dominant and autosomal recessive types of @DISEASE$ have been reported, and there are a variety of syndromes of isolated hypoparathyroidism in association with other developmental anomalies involving dwarfism, cortical thickening of tubular bones, nephropathy, sensoryneural @PHENOTYPICFEATURE$ and lymphedema.	false
+7fb48db0b11ae38118c1e844e2e0dc4b3b15f59c	Here, we further characterize the molecular mechanisms leading to @DISEASE$ in Ndst1 mutant embryos and describe additional malformations, including impaired spinal and cranial neural tube fusion and @PHENOTYPICFEATURE$.	false
+9a51000a009f73fdebf2926a5115e7303ca36eff	Three families with a wide range of vitreoretinal degeneration, @DISEASE$ and @PHENOTYPICFEATURE$ are described.	false
+e250b44f8274f853d054123d50f601db15a1cd83	Clinical delineation of a subtype of @DISEASE$ with creased nasal ridge and upper @PHENOTYPICFEATURE$: Report of six unrelated patients.	false
+e6904670b6c4ac395014379896e27be19768f7c1	Microcephalic osteodysplastic primordial dwarfism and cephalo-@PHENOTYPICFEATURE$ (@DISEASE$)	false
+6dea4d6c096cb25181bfc0fca15ff5f7f5a63827	These observations favor the consideration of early renal transplantation in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+df24071d48c1ad0cfe0310d2a58b97d0781e8916	Abrupt onset of severe uncontrolled hypertension and rapidly progressive oliguric @PHENOTYPICFEATURE$ characterizes @DISEASE$ renal crisis.	false
+65866b30f6949cc9bf711ffeded675148d88d21a	@DISEASE$ crisis: progressive @PHENOTYPICFEATURE$ despite blood-pressure control.	false
+a89d33b09fc43b4f2d28371476ce7a11acdee1a4	Malignant hypertension and @PHENOTYPICFEATURE$: @DISEASE$ renal crisis or renal artery stenosis?	false
+7836e0264792fe8bc6daba4a035636c0ec1ba338	The @DISEASE$ renal crisis caused terminal @PHENOTYPICFEATURE$, which was treated by chronic hemodialysis.	false
+46a8c14cc3a963f948c02c774f0904ba194b1efb	Hypertension and @PHENOTYPICFEATURE$ (@DISEASE$ renal crisis) in progressive systemic sclerosis.	false
+4260e6f4156be62985ee2b5429c111e99824ab01	On admission, she had severe high-renin hypertension and progressive @PHENOTYPICFEATURE$, suggesting @DISEASE$ renal crisis.	false
+71e46cd7255ea3ec7c9480fe177d41552eb0909b	The @DISEASE$ renal crisis is characterized by acute onset of severe hypertension and by rapidly progressive hyperreninemic @PHENOTYPICFEATURE$.	false
+8f34b2c146d8034d9da33164a292bd9d83ef5d5f	The patient developed typical @DISEASE$ skin changes after @PHENOTYPICFEATURE$.	false
+20a67ce8d058edbe81a4b8d3b7611825d64131a1	Despite good pressure control, however, @PHENOTYPICFEATURE$ developed in 5 patients with @DISEASE$ renal crisis.	false
+4443909a2c446e345ae9b79699cdeac5bf165c50	@PHENOTYPICFEATURE$ and @DISEASE$ unresponsive to human luteinizing hormone (hLH).	false
+b44931d2bf8086ddf1d8c107be80b4acea3fd3a3	Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ @DISEASE$, partial @PHENOTYPICFEATURE$, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made.	false
+c98a1f6b8487dc8f4b9d6487d143f5634aec5474	Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ @DISEASE$, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, @PHENOTYPICFEATURE$, testicular vanishing syndrome, klinefelter syndrome, hypogonadotropic hypogonadism, isolated hypospadias and isolated micropenis was made.	false
+75a0c1db299d38a0451bb1d14773115f156242fd	RSH/@DISEASE$ is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, @PHENOTYPICFEATURE$ (CHD), postaxial polydactyly, and 2-3 toe syndactyly.	false
+c21cced772e49606c2333c3effb79ab5bee241a2	@DISEASE$, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, @PHENOTYPICFEATURE$, renal anomalies, and male pseudohermaphroditism.	false
+e7641afa91400a01b0bd75514ad72c4005b3ad4e	Specific @PHENOTYPICFEATURE$ in RSH/@DISEASE$: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.	false
+50774b5434946cdf0739659bc77547ad57d7158b	@PHENOTYPICFEATURE$ in @DISEASE$: cause or effect?	false
+5c2c931bfce1fd41902c9e965bbd1fe85e89a1fb	We suggest that @DISEASE$ should not merely be considered a syndrome consisting of aplasia cutis congenita and terminal transverse limb defects but rather a constellation of clinical findings resulting from an early embryonic @PHENOTYPICFEATURE$.	false
+38b6d07bb1540f17af391d3ee15c67a4573cff17	The phenotypic and genetic spectrum of @PHENOTYPICFEATURE$ with oculomotor apraxia (@DISEASE$) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes.	false
+2fadccab482e2287f5b299f3c6cb6bee2e0fc90a	Narrow phonetic transcriptions and prosodic judgments were made of single-word imitations by apraxic (@DISEASE$), conduction aphasic (CA), and @PHENOTYPICFEATURE$ dysarthric (AD) speakers.	false
+8b0a726eabfe162f3785b5d6391f30f7a7b944fd	The association of congenital scalp defects and distal congenital @PHENOTYPICFEATURE$ is relatively rare and one form is known as the @DISEASE$.	false
+642a6c15af59fba8af548984c4e114394aa2b64b	In the background of this postulation and the report of an unusual @PHENOTYPICFEATURE$, a literature review on the various pathogenetic mechanisms and anomalies of the hand reported in @DISEASE$ is presented.	false
+756c7a752bdc8c92e1d3d31b3b85dd69621458dc	Clinical evidence of @PHENOTYPICFEATURE$ at birth in @DISEASE$: report of two further cases.	false
+c554d43bcd1d4c6f53cce1e414436acd598b2299	Separate sections are devoted to the delimitations of @DISEASE$ from oral facial apraxia, @PHENOTYPICFEATURE$, and phonological impairment.	false
+d676613a48411ac1b3bbade1879ac35b852f2bf1	The investigation for @DISEASE$ must be considered in male babies and young boys with dilated cardiomyopathy and @PHENOTYPICFEATURE$.	false
+0e41cd71faa3fe6875f28250c206db020954552c	@PHENOTYPICFEATURE$ in the X-linked cardiomyopathy @DISEASE$.	false
+eaed6b3a0fd58ed3ca9bc8b800dbb148cea3a734	We report the case of two brothers with @DISEASE$ and @PHENOTYPICFEATURE$ (LVNC) caused by a splice donor mutation in TAZ.	false
+b43a36236a868dac7460c4e1171ccc59e4f9b41a	Barth syndrome (@DISEASE$) is a rare X-linked disorder characterized by cardiomyopathy, @PHENOTYPICFEATURE$, neutropenia, and 3-methylglutaconic aciduria.	false
+712bc16dcae0659ab956e7d2db92e8e02a59869d	@DISEASE$ (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, @PHENOTYPICFEATURE$, neutropenia, and 3-methylglutaconic aciduria.	false
+eef2e54c90ae067f32cd2a331ca5c358c332d6cc	anaphylaxis, @PHENOTYPICFEATURE$, Guillian-@DISEASE$ [GBS]), adverse birth outcomes (e.g.	false
+035fa60e4b5b9aeb9177abd932dcbb46cce21d70	Novel gene mutations in patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+8d407d899364f8830b15f49c0f1cd8124228972b	Differing clinical courses and outcomes in two siblings with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0b71dc17b132987fb1b25936a45e8193049385cc	TAZ (G4.5) was initially identified as the gene associated with @DISEASE$ and @PHENOTYPICFEATURE$ (LVNC).	false
+8ba3d34ac0daab628d4de7089ab1dfdc5670c352	Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+521d44456403e037c3376bbfe8a310a7d87fefaa	@DISEASE$ (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and @PHENOTYPICFEATURE$.	false
+f1642d2ee74daf38f70c827e8172ddd29606b6b7	Barth syndrome (@DISEASE$) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and @PHENOTYPICFEATURE$.	false
+c1e9599492436b096eccf8bfbb863f389497c38a	The indication for lengthening was femoral shortening from 5 to 12 cm (mean 7.5) because of myelodysplasia with club @PHENOTYPICFEATURE$ (1 case), fibular hemimelia (1 case), sequelae of septic arthritis (1 case) and @DISEASE$ (1 case).	false
+fca88152beb7ae0f796b5ba724a1bffba0d2fae7	In @DISEASE$ patients, all with MR findings of @PHENOTYPICFEATURE$ and diffuse white matter disease, NA/Cr decreased (white matter, -31.8%; gray matter, -22.3%),	false
+d16c5501a11984c1c5d37a01252daa33d0474d8f	Here we review the characterization of the robotic mouse, a novel model of @DISEASE$ isolated from an ENU-mutagenesis programme, which develops adult-onset region-specific Purkinje cell loss and @PHENOTYPICFEATURE$, and displays defects in early T-cell maturation and general growth retardation.	false
+d2d1066ef341f4c34b6ee98ce840294b733c874d	Here, we review the characterisation of a novel model of @DISEASE$ which shows general growth retardation and develops adult-onset region-specific Purkinje cell loss as well as @PHENOTYPICFEATURE$ and defects in early T-cell maturation.	false
+9e415739cd7ab216947892085e15d2a213313100	To further elucidate the @PHENOTYPICFEATURE$ phenotype, and identify the gene and mutation for autosomal dominant cataract (@DISEASE$) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13.	false
+eb7b5458cb238c75ca9127ea60e72429b409cdc1	Increasing WMH scores were associated with a higher frequency of hypertension, a greater WMH volume, more @PHENOTYPICFEATURE$, worse overall cognitive performance, and changes in @DISEASE$.	false
+721b33e1d8144fc9914cef881e0dec86e8b4be73	To determine the different morphologies of autosomal dominant cataract (ADC), assess the intra- and interfamilial variation in @PHENOTYPICFEATURE$ morphology, and undertake a genetic linkage study to identify loci for genes causing @DISEASE$ and detect the underlying mutation.	false
+70050dc295372aa6cea0dee152bfb2fe9182c0fe	To determine the different morphologies of autosomal dominant cataract (@DISEASE$), assess the intra- and interfamilial variation in @PHENOTYPICFEATURE$ morphology, and undertake a genetic linkage study to identify loci for genes causing ADC and detect the underlying mutation.	false
+78c2bab916f3a267fd492b81195a642899b98bef	The aim of the study was to evaluate the performance of parameters obtained from diffusion-weighted imaging (DWI) with multiple b values in the detection of chronic brain damage in patients with type 2 diabetes.We enrolled 30 patients with or without abnormalities on brain magnetic resonance imaging (lacunar infarction, leukoaraiosis, and/or @PHENOTYPICFEATURE$) and 15 nondiabetic controls; obtained DWI parameters that included apparent diffusion coefficient (@DISEASE$), fast ADC (ADCfast), slow ADC (ADCslow), fraction of fast ADC (f), distributed diffusion coefficient (DDC), and stretched exponential (?); and performed receiver operating characteristic (ROC) analysis to evaluate the performance of parameters for the detection of chronic brain damage.The parameters ADC, ADCslow, f, and DDC were increased, whereas parameters ADCfast and ? were decreased in type 2 diabetes patients compared with controls without diabetes.	false
+cc84753545b74d1035eb51d5dcc3730779576b50	For diagnosis, a distinction must be made from other diseases such as chronic granulomatous disease, amyloid nodules, @PHENOTYPICFEATURE$, primary and metastatic lung cancers, @DISEASE$ and vascular sarcoma.	false
+5d56f4df6863e4438d19147398e0506179bd4391	The indication for resection was primary lung cancer in six patients, @DISEASE$ in one patient, recurrent lung cancer in one patient, recurrent invasive thymoma in one patient, postirradiated osteomyelitis in one patient, and chondro-@PHENOTYPICFEATURE$ in one patient.	false
+3f1ea9caeb66a71817f6bab5295037f3389c60ac	Major features included bilateral @DISEASE$, generalised osteopenia, severe platyspondyly, borderline @PHENOTYPICFEATURE$, muscular hypotonia, joint laxity, and ventricular septal defect.	false
+77f30a5ba9886e8873bb228ffbf6377d921a5f2e	Major features included bilateral @DISEASE$, generalised osteopenia, severe platyspondyly, borderline mental retardation, @PHENOTYPICFEATURE$, joint laxity, and ventricular septal defect.	false
+bc6713709989a0b3307673e9c4c6f2f97a44b4d7	@PHENOTYPICFEATURE$ was the main morphological type of @DISEASE$ in the study.	false
+05fed54e1ead27f48cbe9a96028923f1ebaf57c7	All the three cases had mental retardation, congenital bilateral @DISEASE$ and @PHENOTYPICFEATURE$.	false
+335254abd0d9940785e1f91157deae0fac5b70aa	All the three cases had @PHENOTYPICFEATURE$, congenital bilateral @DISEASE$ and cerebellar ataxia.	false
+af1ca6d5d30156a7827c031d7612b9a2d3213c3a	[Rare syndrome:  hereditary ataxia with congenital @DISEASE$ and @PHENOTYPICFEATURE$].	false
+9225fbea09d1f841fb8314b25ddd4d9318a15ed0	[Rare syndrome:  hereditary @PHENOTYPICFEATURE$ with congenital @DISEASE$ and mental retardation].	false
+e81437bb4469c00dd1ba6259e531ea8b6139433c	@PHENOTYPICFEATURE$ type 1 with @DISEASE$ and mental retardation.	false
+4046a4b281419c5238595d428cbb1b4f213fde1c	Syndactyly type 1 with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+09fb10d91c50ff358d74e4971865c565e798c158	In preschool age ataxia, @DISEASE$ and @PHENOTYPICFEATURE$ manifested.	false
+b8718ffac1ec5b4c98d6465e8e5248e02e855829	In preschool age @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation manifested.	false
+4b95a51d4864e56352e8b14514342ee593e42daf	A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, ataxia, @PHENOTYPICFEATURE$, @DISEASE$, retinitis pigmentosa, mental deterioration, and hypothyroidism.	false
+07c79aaab6f6a0c59fc6620459eb8200335119c5	A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, ataxia, seizures, @DISEASE$, retinitis pigmentosa, @PHENOTYPICFEATURE$, and hypothyroidism.	false
+c6d651b98ff9cd187bf89a20024bbaffae05a44c	A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, @PHENOTYPICFEATURE$, seizures, @DISEASE$, retinitis pigmentosa, mental deterioration, and hypothyroidism.	false
+fccf544eb05ccc94376f8a64fec883cae70a0bb9	The Marinesco-Sj?gren syndrome is an autosomal recessive degenerative disorder characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, spasticity, mental deficiency, and skeletal abnormalities.	false
+f13e072e6617e41dadb623fa5fa6d5f1de53490c	The Marinesco-Sj?gren syndrome is an autosomal recessive degenerative disorder characterized by congenital @DISEASE$, cerebellar ataxia, @PHENOTYPICFEATURE$, mental deficiency, and skeletal abnormalities.	false
+3be4224be78941ba2f905825119b181273ab2309	The Marinesco-Sj?gren syndrome is an autosomal recessive degenerative disorder characterized by congenital @DISEASE$, cerebellar ataxia, spasticity, @PHENOTYPICFEATURE$, and skeletal abnormalities.	false
+ab84241ebe5c707a72d64850884664a1d3cf2423	Both the patients had juvenile @DISEASE$, mental retardation and marked @PHENOTYPICFEATURE$.	false
+757063491126b659e05060ca4ca6498610402a76	Both the patients had juvenile @DISEASE$, @PHENOTYPICFEATURE$ and marked cerebellar ataxia.	false
+73b1b0dda13d31ea69cfa1a0fe691d99f95b59cd	In terms of morphology, 72 children (33.8%) had @PHENOTYPICFEATURE$ and 66 (31.9%) had total @DISEASE$.	false
+1d3b6df97d0d69604c64bc46e2e30623034a3343	Laboratory examinations revealed @DISEASE$, hypokalemia, @PHENOTYPICFEATURE$, and aminoaciduria, and FS was diagnosed.	false
+b844a461e6c02f6688ace1076a487978ecb9111c	@PHENOTYPICFEATURE$ and coma associated with @DISEASE$ in an old patient with refractory edema due to the nephrotic syndrome: furosemide-bicarbonate therapy.	false
+98d3dd08cc5062ac86854951a463a265ce164d5b	We herein report two pediatric cases of MMA caused by MMAB mutations (cblB defect) with @DISEASE$, chronic kidney disease, @PHENOTYPICFEATURE$, and gout.	false
+d06627c3c8cd66fa1fb3a2b72567ec928dc0deae	The differential diagnosis includes @DISEASE$, @PHENOTYPICFEATURE$, Bartter syndrome, Liddle syndrome and other diseases that cause hypokalemia.	false
+5dd9bf85c893da88ed490816d9feb6d513da4a2f	Progressive hyperchloraemic @DISEASE$, @PHENOTYPICFEATURE$, hyperphosphaturia and generalized hyperaminoaciduria had developed in infancy.	false
+57ff3173a944357c890f7e2f8c1785266a1846f2	Osteopetrosis, @DISEASE$ and @PHENOTYPICFEATURE$ in three sisters.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+37a357efc91574cfc9b721d9502aecf8ea12c640	Novel studies have shown that @PHENOTYPICFEATURE$ directly inhibits ammonia metabolism, thereby leading to the metabolic acidosis present in type IV @DISEASE$.	false
+d56bb4cca90088a617df8259d1f80888b5db2f2d	In patients with hereditary fructose intolerance, fructose consumption is associated with acute hypoglycemia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+fd11c997479ced1937f0859394083466fd24ee37	@PHENOTYPICFEATURE$ and @DISEASE$ due to renal amyloidosis.	false
+7d0c641f2877f187d6647c1407d2d5027cea5744	The utility of ADC, @PHENOTYPICFEATURE$ size, and @DISEASE$/size ratio for distinguishing low-grade from high-grade tumors was assessed.	false
+c33bdcd0a3cda4a8a662ea50569edf8ab6453925	The utility of @DISEASE$, tumor size, and ADC/size ratio for distinguishing low-grade from high-grade @PHENOTYPICFEATURE$ was assessed.	false
+7b71b1c5b806f9c73dc0f79ece18f71bb8569161	The utility of ADC, tumor size, and @DISEASE$/size ratio for distinguishing low-grade from high-grade @PHENOTYPICFEATURE$ was assessed.	false
+094a92e256ca027cc99a99c955e03915d57b8932	The utility of @DISEASE$, @PHENOTYPICFEATURE$ size, and ADC/size ratio for distinguishing low-grade from high-grade tumors was assessed.	false
+0db4ae98fc39bafc44061281bf9a11b87573251a	For predicting BCR, area under the curve for tumour @DISEASE$ was 0.755, and @PHENOTYPICFEATURE$ ADC showed better diagnostic performance than that of all other variables.	false
+797c384a9e3a8a3e6f1b2d9b1330c102f5143d34	For predicting BCR, area under the curve for @PHENOTYPICFEATURE$ @DISEASE$ was 0.755, and tumour ADC showed better diagnostic performance than that of all other variables.	false
+adafd41b34932f7cbc87697d7d84dfd42233c373	For predicting BCR, area under the curve for @PHENOTYPICFEATURE$ ADC was 0.755, and tumour @DISEASE$ showed better diagnostic performance than that of all other variables.	false
+eba1d0de9a52df12c7c4a42460a45bcb888a6e41	For predicting BCR, area under the curve for tumour ADC was 0.755, and @PHENOTYPICFEATURE$ @DISEASE$ showed better diagnostic performance than that of all other variables.	false
+23798e446c9e7b27bff6e124153ea5dee627de86	Changes in @PHENOTYPICFEATURE$ @DISEASE$ were seen during RT.	false
+989c6de626058433075a15accbec33208dbb3208	Mean @PHENOTYPICFEATURE$ @DISEASE$ value and normal tissue ADC were significantly lower in rFOV EPI (P < 0.001).	false
+949baecd0f4881f4d84cd814e9341b466857d161	Mean @PHENOTYPICFEATURE$ ADC value and normal tissue @DISEASE$ were significantly lower in rFOV EPI (P < 0.001).	false
+1051b1a7a7a91f20af9de667c4b839fa5a505d2e	Regions of interest were placed on ADC maps around tumour margins to generate mean tumour ADC, and over minimum and maximum @PHENOTYPICFEATURE$ @DISEASE$.	false
+782e9ec1f1799800ccffff46c7878d0def08bfce	Regions of interest were placed on ADC maps around tumour margins to generate mean @PHENOTYPICFEATURE$ @DISEASE$, and over minimum and maximum tumour ADC.	false
+9f7525cc0fe8a020773e95fe5a4368cf3f72ee00	Regions of interest were placed on ADC maps around tumour margins to generate mean @PHENOTYPICFEATURE$ ADC, and over minimum and maximum tumour @DISEASE$.	false
+ec23f56e797a1f5190941d8350cf786173ad465a	Regions of interest were placed on ADC maps around @PHENOTYPICFEATURE$ margins to generate mean tumour @DISEASE$, and over minimum and maximum tumour ADC.	false
+72dac37c7b15115da4fe1ff81c3dc5efdd650adb	Regions of interest were placed on ADC maps around @PHENOTYPICFEATURE$ margins to generate mean tumour ADC, and over minimum and maximum tumour @DISEASE$.	false
+29e034eecd7fad1f835a27a9134496421ef059de	Regions of interest were placed on ADC maps around tumour margins to generate mean tumour @DISEASE$, and over minimum and maximum @PHENOTYPICFEATURE$ ADC.	false
+3c1609868b4c5a691bd15a78eac3b519ffb53798	Our results suggest that ADC values and ADC ratios (minimum and mean of @DISEASE$ tumor and ADC @PHENOTYPICFEATURE$ ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+67606bc773c93a71f1d085e20b04079f53e0643c	Our results suggest that ADC values and ADC ratios (minimum and mean of ADC @PHENOTYPICFEATURE$ and @DISEASE$ tumor ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+ef4345ffb4d1758b8047fd31160dd3fa46a3f97b	Our results suggest that ADC values and @DISEASE$ ratios (minimum and mean of ADC tumor and ADC @PHENOTYPICFEATURE$ ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+31bd5fd1a834318729943c4d6d3550199203dced	Our results suggest that ADC values and ADC ratios (minimum and mean of ADC tumor and @DISEASE$ @PHENOTYPICFEATURE$ ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+347a92fdbe79660b01af2436b4cae84f9c84ba85	Our results suggest that ADC values and @DISEASE$ ratios (minimum and mean of ADC @PHENOTYPICFEATURE$ and ADC tumor ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+4e4e28307728a1630940aec62dedcc28ab0aa1c6	Our results suggest that ADC values and ADC ratios (minimum and mean of @DISEASE$ @PHENOTYPICFEATURE$ and ADC tumor ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+50cbec615becad9637319fb79bd0da47f7ddc8b8	Low ADC tumors were found only in boys, whereas high @DISEASE$ @PHENOTYPICFEATURE$ were found in both boys and girls.	false
+290e62e0e99130d32901cd590e25a3b9c0382244	Low @DISEASE$ @PHENOTYPICFEATURE$ were found only in boys, whereas high ADC tumors were found in both boys and girls.	false
+2499b9722b765906715e808fce6a5a0fe8e6ba26	Low @DISEASE$ tumors were found only in boys, whereas high ADC @PHENOTYPICFEATURE$ were found in both boys and girls.	false
+04830f9f3737917a6adb1f9ea99b0cccd712b1f4	Low ADC @PHENOTYPICFEATURE$ were found only in boys, whereas high @DISEASE$ tumors were found in both boys and girls.	false
+c8b63729a26e8ea1e78f9e7b312038840ac785c0	Percent changes in tumor volume and @DISEASE$ were calculated and correlations between @PHENOTYPICFEATURE$ volume and ADC were evaluated.	false
+32487dc4745d9df8fdfdd7069da4db7dc7f35c80	Percent changes in @PHENOTYPICFEATURE$ volume and ADC were calculated and correlations between tumor volume and @DISEASE$ were evaluated.	false
+e4108aa2a092994ef86ff9f5217b48a4eeb35c05	Percent changes in tumor volume and ADC were calculated and correlations between @PHENOTYPICFEATURE$ volume and @DISEASE$ were evaluated.	false
+4870052fff5136906034def45622a91f79dc73b8	Percent changes in @PHENOTYPICFEATURE$ volume and @DISEASE$ were calculated and correlations between tumor volume and ADC were evaluated.	false
+0162c479f1d659fae526bd1df9e21764339f50ae	Whole-tumour apparent diffusion coefficient (@DISEASE$) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the @PHENOTYPICFEATURE$ with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+edfa969cfd0c5e6e1243df822581c519f7b1fc88	Whole-@PHENOTYPICFEATURE$ apparent diffusion coefficient (ADC) maps and histograms were generated, and mean @DISEASE$ and AUC(low) (proportion of the tumour with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+3bf35a8ae0850edf81da02107422068b495d7e26	Whole-tumour apparent diffusion coefficient (ADC) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the @PHENOTYPICFEATURE$ with @DISEASE$ values lying below the 25th percentile of the ADC histogram) recorded.	false
+4226b8fb34d1e394fb0477117986a6cf6c774565	Whole-@PHENOTYPICFEATURE$ apparent diffusion coefficient (@DISEASE$) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the tumour with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+65b7111aa48af181d99b110a3b730abc6ce38b36	Whole-tumour apparent diffusion coefficient (ADC) maps and histograms were generated, and mean @DISEASE$ and AUC(low) (proportion of the @PHENOTYPICFEATURE$ with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+ca0c4590cbe9db984c1c9c46c5187e939e59453b	Whole-@PHENOTYPICFEATURE$ apparent diffusion coefficient (ADC) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the tumour with @DISEASE$ values lying below the 25th percentile of the ADC histogram) recorded.	false
+b1468b8f6405ad4c83947be6352684559b460815	Standardized @PHENOTYPICFEATURE$ @DISEASE$ (sT-ADC) was calculated by dividing absolute tumor ADC (aT-ADC) by that of gluteus maximus.	false
+7746a66deca17a680a4689415a9e91c6d0410827	Standardized tumor @DISEASE$ (sT-ADC) was calculated by dividing absolute @PHENOTYPICFEATURE$ ADC (aT-ADC) by that of gluteus maximus.	false
+69715257c539008a5ae51927fb06ba66b17177d8	Standardized @PHENOTYPICFEATURE$ ADC (sT-ADC) was calculated by dividing absolute tumor @DISEASE$ (aT-ADC) by that of gluteus maximus.	false
+d09c81e60130278917469db516e7101ab80dce9f	Standardized tumor ADC (sT-ADC) was calculated by dividing absolute @PHENOTYPICFEATURE$ @DISEASE$ (aT-ADC) by that of gluteus maximus.	false
+7093fb4e3814c52c8df78f0a2a643402f07bd098	@DISEASE$, often presenting as childhood-onset SRNS, may also be difficult to diagnose in patients with the following conditions: renal symptoms prior to overt extrarenal symptoms, de novo @PHENOTYPICFEATURE$, and non-specific findings in renal biopsy.	false
+1152c8c02f255fea21d21b0f0ee654f6d1bd11a9	The ability of dilept to eliminate the @DISEASE$ deficiency in the acoustic startle reflex test on the model of glutamate-negative psychosis in rats can be considered as a prognostic sign for the drug efficiency with respect to the negative and cognitive symptoms of schizophrenia and @PHENOTYPICFEATURE$ manifestations.	false
+dc0c21cccf401ff322b27f92487989f38874f151	Herein we report the first case of a patient with @DISEASE$ associated with an aberrant subclavian artery and vascular @PHENOTYPICFEATURE$, whose mother used misoprostol during pregnancy.	false
+6a3b1c2131d521ff0116c57c5695239086800d72	@DISEASE$ and @PHENOTYPICFEATURE$ were present in three and six patients, respectively.	false
+ed5d946be0faee7c762da616809401eba4beb732	Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, @PHENOTYPICFEATURE$, transverse limb deficiencies, @DISEASE$, and a myriad of hand conditions.	false
+144e3bb8ec8d659bca439a2f4619234d51e2dd10	Cirrhotic patients managed with @DISEASE$ are susceptible to early @PHENOTYPICFEATURE$, persistent coagulopathy, large NPWT fluid losses, prolonged vasopressor requirements, multiple organ failure, and early mortality.	false
+dec310191079ade48b86d0154f1a8ac3e582c0e3	@DISEASE$ (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a @PHENOTYPICFEATURE$.	false
+6387c3ee4c1632485bc558596e7a4ebcdcea9fe8	@DISEASE$ (NETs) are rare @PHENOTYPICFEATURE$ representing approximately 20%-30% of all neuroendocrine tumors and 2%-3% of all adult lung cancers.	false
+3298a928d577fd801585d465f1684708b73d69f1	The MEN1 gene seems to be involved in a 20-30% of sporadic parathyroid and pancreatic/@DISEASE$, but less than 1% of pituitary sporadic @PHENOTYPICFEATURE$.	false
+c8e0679bae789885aa9288e89aeac1546f7519d4	GBq) in patients with gastroenteropancreatic or @DISEASE$ results in @PHENOTYPICFEATURE$ remission in 46% of patients, including minor response.	false
+5bb30ae5ee56d81145883cac74f7dd944732e383	Tumors were located in the lung (55.3%), mediastinum-thymus (7.9%), pancreas (8.5%), adrenal glands (6.4%), gastrointestinal tract (5.4%), thyroid (3.7%), and other sites (12.8%), and primary @PHENOTYPICFEATURE$ were mostly @DISEASE$ (NETs) (54.8%), pancreatic NETs (8%), mediastinum-thymus NETs (6.9%), gastrointestinal NETs (5.3%), pheochromocytoma (6.4%), neuroblastoma (3.2%), and medullary thyroid carcinoma (3.2%).	false
+34b7ed68d36b21eb94bc60d53637a9de6a00c0ba	@DISEASE$, @PHENOTYPICFEATURE$, pes cavus, and hammertoes were found in every case.	false
+c7008e13d8a8cae7584f6e934c4c307f35e4e618	SACS-gene related disorders have been associated with complex neurological phenotypes of early-@PHENOTYPICFEATURE$ cerebellar ataxia, @DISEASE$, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure axonal neuropathy phenotypes.	false
+109e1d7926b23bced0a82f8358dcf09fd1c57324	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+97709b0bf2121327435e815d310edb76cf1441de	We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset @DISEASE$, @PHENOTYPICFEATURE$ and intellectual disability.	false
+095f405b805e3c116ae7132f0ccd31c5ba899f60	We report an early onset @DISEASE$-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+bad1d6a1d6853d9d388c9186a21f8db656d3b0b5	He had the characteristic CS facies, cachexia, failure of somatic and brain growth, @DISEASE$, pigmentary retinopathy, hearing loss, mixed @PHENOTYPICFEATURE$, and myopathy.	false
+1a9c90c7ccb0494cff9c35dd599dcabfe727a8be	CTX is characterized by the association of early non-neurological manifestations and adult-onset neurological dysfunctions (@DISEASE$, dementia, psychiatric disorders, @PHENOTYPICFEATURE$).	false
+9185ea7e63c6b7bcd6c0e24e06cc97a3a15fff82	Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a neurodegenerative disorder characterized by early-onset, @DISEASE$ and @PHENOTYPICFEATURE$, with or without mental retardation.	false
+ea0ce7fcc42de43397a4b9b14607547c86978803	Although the cardinal clinical features, i.e., @DISEASE$ with @PHENOTYPICFEATURE$, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination.	false
+f5e3335ef8f42e6cf4ceae6d398e569e43ba6fae	The lectins of interest include galectin-1, -3 and -7 participating in @PHENOTYPICFEATURE$ progression, bacterial lectins from Pseudomonas aeruginosa (PA-IL), E. coli (@DISEASE$-H) and Clostridium botulinum (HA33) or DC-SIGN, receptors of macrophages and dendritic cells.	false
+d0e9085c40739de64950d77e0c1016d9279a9b9c	Apart from an argument against viewing FIM as a manifestation of simple Brownian motion, the correlation analysis of FIM in the adjacent peripheries of a rat fibroblast and a K4 rat sarcoma cell confirmed the notion of higher and uneven distribution of velocity of @DISEASE$ in a @PHENOTYPICFEATURE$ cell so far shown in color-coded images only.	false
+06c7fa656e77c30cf9a329e25e894344aede320c	X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when @PHENOTYPICFEATURE$ is the only feature, or @DISEASE$ mental retardation (MRXS).	false
+f6cc52a9ad5451c5406065a5d0c3f3f8d866eaa0	X-linked mental retardation (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or @DISEASE$ @PHENOTYPICFEATURE$ (MRXS).	false
+36b1bb5afdcf0b3e47d93073c917941ab9f63a7e	X-linked @PHENOTYPICFEATURE$ (XLMR) is a heterogeneous disorder that can be classified as either non-specific (MRX), when mental retardation is the only feature, or @DISEASE$ mental retardation (MRXS).	false
+88cf116b5893a168d4f4e15ebbc66d3005c6fb53	He also suggested that MFS and BBE may belong to the same group of disorders @DISEASE$ of ophthalmoplegia, @PHENOTYPICFEATURE$ and areflexia (SOAA).	false
+9455b37e3f7042d9e170ea43ff53d1e7c9795738	Growth deficiency, facial anomalies, and @PHENOTYPICFEATURE$ (Fr?@DISEASE$): a second family.	false
+07c173dfaf2b8a9dadd4d377549262ff30aada5d	Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (@DISEASE$) has been associated with fasting glucose, one (PCSK1) has been implicated in @PHENOTYPICFEATURE$, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk.	false
+bfa42328f8a7ce58fa93e8dad2f7ebdabcadd8de	The absence of significant long-term differences in EDS improvements between the @DISEASE$ and the nCPAP groups with mild/moderate @PHENOTYPICFEATURE$ may indicate that the larger improvements in AHI values in the nCPAP group are not clinically relevant.	false
+f6a209ad4d7abb6313a4f18589f8f1265a62c547	To share our experiences treating patients with @PHENOTYPICFEATURE$-hypopnea syndrome (OSAHS) with titratable thermoplastic (TPD) and custom-made mandibular advancement devices (@DISEASE$) and to compare these devices in terms of objective improvement and cure and treatment success (improvement/cure plus adherence at 6 months).	false
+0e61f594617d50317ea6b92ceca71278d0a765db	Mandibuloacral dysplasia (@DISEASE$) is a rare autosomal recessive progeroid syndrome, characterized by @PHENOTYPICFEATURE$, acroosteolysis affecting distal phalanges and clavicles, delayed closure of the cranial sutures, atrophic skin, and lipodystrophy.	false
+75a3c8cdaed0bc3459d32e2c70ac354542b263e3	We conclude that in patients with @DISEASE$ due to ZMPSTE24 mutations, the onset of disease manifestations such as thin skin and @PHENOTYPICFEATURE$ occurs as early as 5 months of age.	false
+a283c9b823ae36dd94a73da7fa48876966bd2c82	Two patients with mild variants of the same disorder (@DISEASE$:M) presented with neurologic abnormalities, acidotic coma, and/or @PHENOTYPICFEATURE$; they primarily excreted ethylmalonate and variable amounts of adipate.	false
+e9e102642bd6c1d3a0ed547ef0ea00467af2e019	Mandibulo-acral dysplasia (@DISEASE$) is a rare condition characterized by @PHENOTYPICFEATURE$, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature.	false
+102ad7648281b80782a6d94a5e3ae2e3a429552e	These patients have similar features to @DISEASE$ patients such as @PHENOTYPICFEATURE$, beaked nose, stiff joints, and sclerodermatous skin.	false
+ec18dc14fc3c4cca9a244d05c890ce6a0d29fb32	The odds ratios for success with @DISEASE$ therapy are 3 for women over men, 14.9 for mild @PHENOTYPICFEATURE$, 5.42 for moderate obstructive sleep apnea if severe obstructive sleep apnea is assigned an odds ratio of 1.	false
+7cce9098f40ec30d4d15d51d7779acf268b15ab1	Some physicians often perform diagnostic evaluations for plasma cell disorders (@DISEASE$) in African American patients on the basis of hematological abnormalities (thrombocytopenia, leucopenia, etc.) even in the absence of traditional triggers such as anemia, renal impairment, @PHENOTYPICFEATURE$, hyperglobulinemia, and lytic bone disease.	false
+7a3c26206df7968cedb94b4af074887903a51805	@DISEASE$ is an uncommon disease that may manifest initially as posterior cranial fossa @PHENOTYPICFEATURE$ and subsequent acute hydrocephalus owing to diffuse cerebellar swelling.	false
+66df77f441ae2d4765ecd2fce5010e03b6448c6a	This case supports the concepts of posterior cortical @PHENOTYPICFEATURE$ (@DISEASE$) as a clinically distinct entity and for the first time documents its corresponding metabolic deficit using PET.	false
+761a742026d1a0d3620595577511136588781997	On the basis of our study we concluded that patients with clinical suspicion of @DISEASE$, especially those with LCD are referred to a special Protein Laboratory too late, it means at the time of significant nephrological risk in the form of low glomerular filtration rate, @PHENOTYPICFEATURE$ and hyperuricemia.	false
+d37f6b512fe1c08378d48f5b5fd4dc54e082f87f	Finely minced blocks from the lesion of the patient with @DISEASE$ revealed lighter reactivity which, in the @PHENOTYPICFEATURE$ cells, avoided membrane limited spaces and appeared to be confined to hyaloplasm.	false
+193fb352d4b4bdbfc44ac2e618af126db4e917d4	Treatment with @DISEASE$ reduced edema and MPO activity, which was at least partially attributed to a decrease in the levels of @PHENOTYPICFEATURE$ necrosis factor, interleukin- 1 ?	false
+4ea8c8085e1e30dba53488e33841925d7e6f2e9e	@DISEASE$: @PHENOTYPICFEATURE$ phenotype and metastatic potential.	false
+4aeb94cd4cdf4fe88ec6a06b10652644e9409dab	The clinical phenotype of BAP1 alterations includes MBAITs (melanocytic BAP1-mutated atypical intradermal tumors), @DISEASE$ (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), mesothelioma (MM), and possibly several other @PHENOTYPICFEATURE$.	false
+c7a400f643cd0edfa4c2534b330822fbbb23995d	The clinical phenotype of BAP1 alterations includes MBAITs (melanocytic BAP1-mutated atypical intradermal @PHENOTYPICFEATURE$), @DISEASE$ (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), mesothelioma (MM), and possibly several other tumors.	false
+5082acea6babc6e700c7deb90b49af90936d1f15	The clinical phenotype of BAP1 alterations includes MBAITs (melanocytic BAP1-mutated atypical intradermal tumors), @DISEASE$ (UM), @PHENOTYPICFEATURE$ (CM), renal cell carcinoma (RCC), mesothelioma (MM), and possibly several other tumors.	false
+be08da6c6ed1a6519022b7e167814310fcdb8799	@PHENOTYPICFEATURE$ Expression of Histone Deacetylases in @DISEASE$.	false
+e5544866609d8a2ef5e82f3994cb292beb7f15e0	Local @PHENOTYPICFEATURE$ recurrence and metastatic @DISEASE$.	false
+bea5b2620cde1454f5d8775c62fc29b7039080f7	Many risk factors are shared between @DISEASE$ and cutaneous melanoma, and these include @PHENOTYPICFEATURE$ color and light eye color.	false
+2c41a6df1911ecd6c5599623f6f5a946bf530873	Here, we focused on the identification of miRNA signatures in the @PHENOTYPICFEATURE$ cell line G361 and the @DISEASE$ cell line OCM-1.	false
+9c995e63efc0868186080c04f0212ba505809459	@DISEASE$ is a rare @PHENOTYPICFEATURE$ that accounts for ?3-4% of all uveal melanoma cases.	false
+f090d2790d2d6c57ec2ed98f1e89a7388c64c731	Iris melanoma is a rare @PHENOTYPICFEATURE$ that accounts for ?3-4% of all @DISEASE$ cases.	false
+19bd04d6447932261d7d383361e99f6798763c1f	Germline mutations of BAP1 confer increased susceptibility for the development of several tumours, including @DISEASE$, epithelioid atypical Spitz @PHENOTYPICFEATURE$, cutaneous melanoma, and mesothelioma.	false
+7242da3e87a4b5e10d814a3abe2981135755e54e	Germline mutations of BAP1 confer increased susceptibility for the development of several @PHENOTYPICFEATURE$, including @DISEASE$, epithelioid atypical Spitz tumours, cutaneous melanoma, and mesothelioma.	false
+0315ea68af880f82daea9c7c4318b4fe03cff1c2	Germline mutations of BAP1 confer increased susceptibility for the development of several tumours, including @DISEASE$, epithelioid atypical Spitz tumours, @PHENOTYPICFEATURE$, and mesothelioma.	false
+5e78001d7bff2d823c4a0f718f4e419dc2157326	In all 3 control groups, @PHENOTYPICFEATURE$ color, freckling as a child, nevi on the upper arms, burns to the eyes, use of sunlamps, and ever worked outside for 4 or more hours per day were positively associated with @DISEASE$.	false
+015e9338791155ea1c2daa0fab90e5912f75a016	Nearly half of primary uveal melanoma @PHENOTYPICFEATURE$ metastasize, but there are currently no effective therapies for metastatic @DISEASE$.	false
+18a9f33df29b41e5bb9f0e57b20e2041cdb45ac2	Nearly half of primary @DISEASE$ @PHENOTYPICFEATURE$ metastasize, but there are currently no effective therapies for metastatic uveal melanoma.	false
+597e8d12535afe35b343aa96d466446760f9dd9f	[Severe @PHENOTYPICFEATURE$ in @DISEASE$].	false
+6d6e70c01c3cff503df5903baf1915d940d93566	Heart transplantation for a patient with @DISEASE$ and end-stage @PHENOTYPICFEATURE$.	false
+19e4c0404082d173c849f9ca5e34747a04e9fec5	@PHENOTYPICFEATURE$ due to mitochondrial cardiomyopathy in @DISEASE$.	false
+73cd482f40e21cf3f9619ea7409faf856c490cd3	In brief, we report a patient with the clinical phenotype of @DISEASE$ who presented an acute congestive @PHENOTYPICFEATURE$ due to cardiomyopathy, an association which has seldom been, reported in the literature.	false
+ae0df179ca4f5d0ef32a21dd10661a324345f650	A case of @DISEASE$ (KSS) diagnosed 18 years prior to death due to stroke and @PHENOTYPICFEATURE$ with postnatal onset was followed over 15 years and confirmed by postmortem examination.	false
+e50fd45acceb385715163110aaaa3b21615edbf9	Cardiac dysfunction, including @PHENOTYPICFEATURE$ and impulse conduction abnormalities, have been implicated in the sudden death of patients suffering from the @DISEASE$.	false
+5bc69ef94e54fe3786693faf2cd02263557e4ded	[@DISEASE$: complete auriculoventricular block, torsade de pointes and @PHENOTYPICFEATURE$].	false
+3433931e13aeede60ca5123f384ccbb3e89b00c2	The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the @DISEASE$, for example, can include @PHENOTYPICFEATURE$, diabetes mellitus, cerebellar ataxia, and deafness.	false
+bf62699d021fcf2a5cdabc68e99d4dcbfcd35ace	Because Dfnb31(wi/wi) and Dfnb31(neo/neo) mice faithfully recapitulate hearing and vision symptoms in patients, our findings of @PHENOTYPICFEATURE$ in these Dfnb31 mutants raise the question of whether @DISEASE$-deficient patients may acquire vestibular as well as hearing and vision loss.	false
+061d83a9c7b44ffd9423c216ce7be77c5606cead	A study of whirlin isoforms in the mouse vestibular system suggests potential @PHENOTYPICFEATURE$ in @DISEASE$-deficient patients.	false
+66aeb55091c76677d895bd62c28a5c5757f91e05	Rapid @PHENOTYPICFEATURE$ in AIDS-associated @DISEASE$.	false
+eaa7f7dca1179b6e6c35778c3a003c6022e0fdce	@DISEASE$ (FSGS) is a major cause of @PHENOTYPICFEATURE$.	false
+1749e0680459c8a5973a8b9f664aefac6c9882b8	Focal segmental glomerulosclerosis (@DISEASE$) is a major cause of @PHENOTYPICFEATURE$.	false
+a15fa2ab176924d35ad4417d1337fc01ec03cf0b	We report a woman who developed @PHENOTYPICFEATURE$ due to focal glomerulosclerosis (@DISEASE$).	false
+4be7e753265000b19e80c67770f541772eda24af	We report a woman who developed @PHENOTYPICFEATURE$ due to @DISEASE$ (FGS).	false
+80b5af7bbba2d00c94be8049c1685b1c4be36a42	Focal segmental glomerulosclerosis (@DISEASE$) is a primary glomerular disease that usually progresses to @PHENOTYPICFEATURE$.	false
+1b629a3b1ef7d731256625da6c68676363f08b1d	@DISEASE$ (FSGS) is a primary glomerular disease that usually progresses to @PHENOTYPICFEATURE$.	false
+9b78e3c477a453d275acc6720ef52a28d7640a26	Patients with @DISEASE$ (FSGS) develop nephrotic syndrome and terminal @PHENOTYPICFEATURE$ in most cases.	false
+7a5a43f6415d5ff3b0a9563198a301d00d525279	Patients with focal segmental glomerulosclerosis (@DISEASE$) develop nephrotic syndrome and terminal @PHENOTYPICFEATURE$ in most cases.	false
+6979fdec12b86e8160e42633323b2785d7abef49	Thirteen patients had @PHENOTYPICFEATURE$, 10 of whom had @DISEASE$.	false
+42ad28c4221fdb5b209fd6ba31c090358d838343	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, @DISEASE$, @PHENOTYPICFEATURE$ and immunodeficiency.	false
+57d5d04fbe260884f0aa287659dbb5ef27dcbd5b	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, @DISEASE$, renal failure and immunodeficiency.	false
+4595463696ecee9b86a5cb63141112f9ab84f388	In @DISEASE$ (FSGS), a biphasic change in glomerular size is described in which glomeruli are enlarged with early @PHENOTYPICFEATURE$.	false
+6707a51d12ca0752258bce99d4081f4583fffe92	In focal segmental glomerulosclerosis (@DISEASE$), a biphasic change in glomerular size is described in which glomeruli are enlarged with early @PHENOTYPICFEATURE$.	false
+ee17cd6d3c160ae4ed548091da646090af23d125	@DISEASE$, crescent, and rapidly progressive @PHENOTYPICFEATURE$.	false
+017100fd7f011eb6ae09bb2b5e768c250799b0e6	@DISEASE$ (FSGS) is a major cause of nephrotic syndrome and @PHENOTYPICFEATURE$.	false
+0c5f984856455418e225925035b37e545253a7ae	Focal segmental glomerulosclerosis (@DISEASE$) is a major cause of nephrotic syndrome and @PHENOTYPICFEATURE$.	false
+d7c521834e4ec82771895f1ee3ee78ef368fa770	[Central and @PHENOTYPICFEATURE$ associated with @DISEASE$ in a male patient].	false
+7a00763f537dd1e5882e4214364753c0fafbaabb	@PHENOTYPICFEATURE$ is a rare manifestation in @DISEASE$.	false
+cf0447e346e65b0300b579db476beda7da5b0338	The left eye had @PHENOTYPICFEATURE$, mild sclerocornea, corneal staphyloma and @DISEASE$.	false
+371318d7e5c5d6773ed8b6928bda2d3df26e335b	Gastrointestinal autonomic nerve (@DISEASE$) @PHENOTYPICFEATURE$.	false
+640b208afd76da740c0ae35e37e6555e2456ca5d	Gastrointestinal autonomic nerve (@DISEASE$)-@PHENOTYPICFEATURE$ are extremely rare.	false
+b8c93a1e6d83137b4f34bfdfc10dc34c7425ceb0	Ultrastructural studies showed features of a @DISEASE$ @PHENOTYPICFEATURE$.	false
+f4238334e472f9db288d6ce457adb73875ec834e	We present an additional 12 @DISEASE$ @PHENOTYPICFEATURE$, identified by us during 4 years.	false
+14c807a94880da5967ed0449bfb695be1b6ceac1	The prognosis of @DISEASE$-@PHENOTYPICFEATURE$ is fatal.	false
+57928c7e690703b8271261068b31d1d497c5057c	@DISEASE$ @PHENOTYPICFEATURE$ are fatal and must be considered malignant.	false
+f2eeded766741bf9ee035de6d82a98fb32d978da	So far seven cases of intestinal and four of gastric @DISEASE$-@PHENOTYPICFEATURE$ were reported.	false
+60fb6d740042e345db7c59f3052488b78502726c	Bowel perforation due to other gastrointestinal stromal tumours has been reported only twice, but never in association with a @DISEASE$ @PHENOTYPICFEATURE$.	false
+4a6ab7dd32a600d043c42d220881b131f3035cd1	Bowel perforation due to other gastrointestinal stromal @PHENOTYPICFEATURE$ has been reported only twice, but never in association with a @DISEASE$ tumour.	false
+71246c6727cbe27eb31948393dde0ef1d9dd3850	Gastric autonomic nerve (@DISEASE$) @PHENOTYPICFEATURE$ and extra-adrenal paraganglioma in Carney's triad.	false
+819d106eb60a26b401cd154d229d3feb5bed244f	[Malignant tumor of the gastrointestinal autonomic nervous system (@DISEASE$-@PHENOTYPICFEATURE$)].	false
+64e2df510057612eec68b345dc758ca27e130515	[@DISEASE$: @PHENOTYPICFEATURE$ presenting as neuromuscular disease].	false
+7e0fcb7014e4f6153d3a2aef94efe0b8335329df	@DISEASE$ (MED) is a relatively mild @PHENOTYPICFEATURE$ characterized by mild short stature, joint pain, and early-onset osteoarthropathy.	false
+575d606f1727dea2b657966b7739f781a848f403	Multiple Epiphyseal Dysplasia (@DISEASE$) is a relatively mild @PHENOTYPICFEATURE$ characterized by mild short stature, joint pain, and early-onset osteoarthropathy.	false
+030ac76e6a2d927f1faaa0d4b20f3761408635e0	@DISEASE$ (MED) is a relatively common @PHENOTYPICFEATURE$ mainly involving the epiphyses of the long bones.	false
+125ebf5b208033332e72c7c17a91af9568eb868f	Multiple epiphyseal dysplasia (@DISEASE$) is a relatively common @PHENOTYPICFEATURE$ mainly involving the epiphyses of the long bones.	false
+b0aa8d4b87737c107480c67d3734fcfde9fda1b7	However, @DISEASE$ also can present as a neuromuscular disorder with hypotonia and @PHENOTYPICFEATURE$, particularly in childhood.	false
+98f96b4654a3895c99643f2e547ba783604d383c	Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with multiple epiphyseal dysplasia (@DISEASE$) and @PHENOTYPICFEATURE$ (SEMD).	false
+b6acf8d26789822b2ce038b6984fef08ce9187db	Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with @DISEASE$ (MED) and @PHENOTYPICFEATURE$ (SEMD).	false
+54a15c7d1f06507c26cd76fbad4a1314f0bdcbcd	Multiple epiphysis dysplasia (@DISEASE$) is a common @PHENOTYPICFEATURE$ with a significant locus heterogeneity.	false
+7cdcbdf2e9bc163ac0190648638486a84b5fdcd2	@DISEASE$ (MED) is a common @PHENOTYPICFEATURE$ with a significant locus heterogeneity.	false
+93698363b68496301ba6ef59635ef7847d89d418	Except for palmar and @PHENOTYPICFEATURE$, dermatologic examination revealed no other @DISEASE$ disorders.	false
+25271b259d06646747c2f7942aba2253bf607661	Multiple epiphyseal dysplasia (@DISEASE$) is a clinically and genetically heterogeneous @PHENOTYPICFEATURE$.	false
+5e90f99c0153ed1984d162c78db013ee173a8536	@DISEASE$ (MED) is a clinically and genetically heterogeneous @PHENOTYPICFEATURE$.	false
+bdc52a4f115c4b1b917e49f80dfcb1a979a2dcc9	A marked @PHENOTYPICFEATURE$ of the tunica @DISEASE$ was observed.	false
+a5957b5e4552cd68faddfc07959318bc16964e7f	Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as @DISEASE$ (MED) and @PHENOTYPICFEATURE$ (SEMD).	false
+5a8699435b9e89350fbec372902f8a33dffee318	Mutations in matrilin-3 are associated with common skeletal diseases, such as hand osteoarthritis (HOA), as well as rare chondrodysplasias, such as multiple epiphyseal dysplasia (@DISEASE$) and @PHENOTYPICFEATURE$ (SEMD).	false
+a96f0126ab650403121b58ca452a9b00facf383c	Peripheral attacks in @DISEASE$ patients often are located at multiple anatomical locations and frequently have associated @PHENOTYPICFEATURE$ and dysfunction, in addition to swelling, as dominant symptoms.	false
+b335644234c5978b3305abc1b5d89e9d5b2d2ede	This patient had many dysmorphic features consistent with a severe phenotype of @DISEASE$ (AMS) including a fish-like appearance of the mouth, rudimentary ears, absence of body hair, thin skin, absent nipples, abdominal distension, and @PHENOTYPICFEATURE$.	false
+90e1a7aa1c7d8c86602da93763bad522d7e68aef	@DISEASE$, an X-chromosome linked retinal dystrophy of unknown pathogenesis, causes progressive nightblindness and eventual central @PHENOTYPICFEATURE$ in affected males by the third to fourth decade of life.	false
+834ef7e902845d1cfc0c52c3cc0770ceb916f353	@DISEASE$ (McK30310), an X-linked retinal dystrophy, causes progressive night blindness, visual field constriction, and eventual central @PHENOTYPICFEATURE$ in affected males by the third to fourth decade of life.	false
+eb7244952368c0b9a743873a7d18fb7d5ee88fc7	The disorders studied included congenital stationary nightblindness, X-linked juvenile retinoschisis, hereditary dominant @PHENOTYPICFEATURE$, optic atrophy found in association with neurofibromatosis, retinitis pigmentosa, @DISEASE$, and an acquired diffuse photoreceptor disorder, all of which involve pathologic changes that are presumed to occur primarily at specific levels of the retina.	false
+3f23c060d73e8372ed9125b2673d8edcd9f1e906	The disorders studied included congenital stationary nightblindness, X-linked juvenile retinoschisis, hereditary dominant optic atrophy, @PHENOTYPICFEATURE$ found in association with neurofibromatosis, retinitis pigmentosa, @DISEASE$, and an acquired diffuse photoreceptor disorder, all of which involve pathologic changes that are presumed to occur primarily at specific levels of the retina.	false
+b4f1182517995d25ef6254e0cdc27fe91d946f3f	Some rarer hereditary diseases of vision such as Cone dystrophy, dominant @PHENOTYPICFEATURE$, Leber's congenital amaurosis, Stargardt maculopathy, and @DISEASE$ are discussed.	false
+681a519bf8716d1843cb625520604f7a4e77ba04	16 of 19 studies treated by @DISEASE$ granules only showed positive result in patients with HBV, HCV, @PHENOTYPICFEATURE$, depression, nonalcoholic fatty liver disease, AIDS, and asthma while negative result was shown in patients with migraine.	false
+6126fc3f4da2700aec724410d84566c88251989a	@DISEASE$ (tapeto-choroidal dystrophy, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central @PHENOTYPICFEATURE$ in affected males by the third to fourth decade of life.	false
+39d506cdec8f2fa7ac6046ee65780ff429aaa47d	@DISEASE$ (McK 30310), an X-linked hereditary retinal dystrophy, causes nyctalopia, progressive visual field loss, and ultimately central @PHENOTYPICFEATURE$ in affected males in early adulthood.	false
+cc6b09e5203118bec2f32d68c47eec7c6dd4cd6c	@DISEASE$ (McK30310), an X-linked hereditary retinal dystrophy, causes night-blindness, progressive peripheral visual field loss, and, ultimately, central @PHENOTYPICFEATURE$ in affected males.	false
+b13b9ecaf2d7fd7413b1d0763d3bcdad5a8fceee	Choroideraemia (@DISEASE$, TCD), a common form of X-linked @PHENOTYPICFEATURE$, is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina.	false
+72dffa6229551dcbe1c3953d180cb4875b06e221	The @DISEASE$ group was characterized by more cases of chronic obstructive pulmonary disease, ulcer disease, @PHENOTYPICFEATURE$, tobacco use, and higher income.	false
+e2ad3555e2b671b4c745ca1a988d6a437c1fac24	A range of @PHENOTYPICFEATURE$ are evident in mucopolysaccharidosis type VI (@DISEASE$) including short stature and dysostosis multiplex, resulting from a deficiency in the lysosomal hydrolase N-acetylgalactosamine-4-sulphatase (4S).	false
+4c153c738fe4cb06131e8c6cba415e02f3358bb9	A range of @PHENOTYPICFEATURE$ are evident in @DISEASE$ (MPS VI, Maroteaux-Lamy syndrome) including short stature and dysostosis multiplex, resulting from a deficiency in the lysosomal hydrolase N-acetylgalactosamine-4-sulphatase (4S).	false
+b3e1d4d2da1891674ee12d7eeb820f48e81251a3	@DISEASE$ (MPS VI; Maroteaux-Lamy syndrome, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe @PHENOTYPICFEATURE$.	false
+0a405aee6745397c3d6afe18e569eee66c4efdee	Mucopolysaccharidosis type VI (@DISEASE$, OMIM #253200) is a rare disorder involving multiple organs and manifested particularly by severe @PHENOTYPICFEATURE$.	false
+66020b18a649ffe5085852ee0817988fe80ad372	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+240f475e5e6976b7cc6a2294ad034c5f491a2140	@DISEASE$ in twins: lethal dominant @PHENOTYPICFEATURE$ or acquired disease?	false
+e237ef7bca47d7e4d9b88308563b298de390960c	To evaluate the clinical outcomes, safety, and efficacy of @PHENOTYPICFEATURE$ surgery with the implantation of a toric intraocular lens (IOL) in eyes with stable pellucid marginal degeneration (@DISEASE$).	false
+e535af054015c2489a6aeba22b93922b3624de04	I report a case of pellucid marginal degeneration (@DISEASE$) with @PHENOTYPICFEATURE$ that was successfully treated with implantation of an ultra-high-power customized bitoric AT.Comfort 646TLC intraocular lens (IOL).	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+86c83720cf3eaf0eba0b299d260407d4a86bfd83	Eleven eyes (eight patients) diagnosed as stable @DISEASE$ and @PHENOTYPICFEATURE$ underwent mini-incision 2.2?mm cataract surgery followed by the implantation of hydrophobic toric aspheric IOL (AcrySof IQ Toric IOL, Alcon, Fort Worth, TX, USA).	false
+c930b4a303f2571e9fd8c30419174dd70884afb5	The possibility of @DISEASE$ should be considered in boys with @PHENOTYPICFEATURE$, psychomotor retardation and hypotonia.	false
+dce3d60e4560e9b6a2a335fff47697bb732bb2df	Cataract surgery with toric IOL implantation seems to be safe and effective in correcting astigmatism and improving visual function in @PHENOTYPICFEATURE$ patients with topographically stable keratoconus or @DISEASE$.	false
+7e6798b94869a88bb38b13901c87330e8f7dde9e	Five eyes of 3 @PHENOTYPICFEATURE$ patients with topographically stable keratoconus or pellucid macular degeneration (@DISEASE$), in which phacoemulsification with toric IOL implantation was used to correct high astigmatism, are reported.	false
+f2818791121e524c55a4afa2f28f17a32133fae2	Cancer @PHENOTYPICFEATURE$ is usually managed by oncologists, occasionally with input from specialists in hospice and palliative medicine (PLM) or pain medicine (@DISEASE$).	false
+f882ab5fc346a300d8a02347c270aa5c65e9d13e	Pulmonary agenesis, @PHENOTYPICFEATURE$, and diaphragmatic defect (@DISEASE$): new syndrome or association?	false
+c675bb3d8ce0fb041a4b0ed976eb1bcfd235cefc	The atypical @PHENOTYPICFEATURE$ has important clinical implications because of its association with the mesial @DISEASE$ syndrome, which is the most common of the intractable epilepsies.	false
+2aa72f55a553bc7cb66768038cd099fd384d4c5b	The upper gastrointestinal microbiota is essential for several gastrointestinal illnesses, including esophagitis, Barrett's esophagus, and @DISEASE$, gastritis and gastric cancer, small intestinal bacterial @PHENOTYPICFEATURE$, IBS and celiac disease.	false
+4bbe856c521914e791b53af1edd8871d8279ce7c	A 60 -year-old man complained of dysphagia and was admitted to our hospital for adjuvant chemotherapy under a diagnosis of @DISEASE$(@PHENOTYPICFEATURE$[SCC], Stage II ).	false
+2f1d799e5a61006a0db57733e9b8a45efe44bafb	@DISEASE$: is biology screaming in my @PHENOTYPICFEATURE$ ears?	false
+c1640d9a1df39b7ff301ce5328380370b7d10b69	Six patients (four cases of early @DISEASE$ and two cases of advanced esophageal carcinoma, one of the latter patients having tumor @PHENOTYPICFEATURE$ on a metal stent) were treated in nine sessions.	false
+5d73672f86b8a1e524026bd1a2e8efe86249aeeb	Six patients (four cases of early esophageal carcinoma and two cases of advanced @DISEASE$, one of the latter patients having tumor @PHENOTYPICFEATURE$ on a metal stent) were treated in nine sessions.	false
+ead76ccc48a60658631cbb7b20b700a3961e7d4d	The lipid phosphatase gene FIG4 is responsible for Yunis-Var?@DISEASE$ and Charcot-Marie-Tooth disease Type 4J, a @PHENOTYPICFEATURE$.	false
+cdd89a4b89710c5447b59570d213c7ee9d548187	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, @PHENOTYPICFEATURE$, scleroderma and hepatopathy in the chronic phase.	false
+47e4fad9e281a3c28c0c8591772635244f82dff6	Background Common causes of temporal lobe hyper intensities are @PHENOTYPICFEATURE$ like herpes simplex encephalitis, Lyme disease, limbic encephalitis and vascular pathology like @DISEASE$.	false
+9a5feabdb624f591a46e3734c455fdcff0d232df	The A1555 G mutation in mitochondrial 12S rRNA has been found to be associated with non-syndromic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8edc35894e10c9e60243157ed5bef9f69f40066a	Clinical evaluation revealed wide range of severity, age-at-onset and audiometric configuration of @PHENOTYPICFEATURE$ in matrilineal relatives in both families, for which the penetrance of hearing loss was respectively 42.9% and 28.6% when @DISEASE$ was included.	false
+0b16c5541eddea31bca46c0455f77b146ee4408a	The phenotypic effects of the human mitochondrial 12S rRNA gene mutation at position 1555 associated with maternally inherited non-syndromic @PHENOTYPICFEATURE$ and sensitivity to @DISEASE$ have been analyzed in 25 lymphoblastoid cell lines derived from members of a large family carrying this mutation in homoplasmic form and from control individuals.	false
+6bd015eb7e2873dc3e7ef2467378d855f54ce4d3	The pathogenetic mechanism of the human mitochondrial 12S rRNA gene mutation at position 1555, associated with non-syndromic @PHENOTYPICFEATURE$ and @DISEASE$, has been investigated in 33 transformants obtained by transferring mitochondria from lymphoblastoid cell lines into human mitochondrial DNA (mtDNA)-less (rho *206) cells.	false
+2a48d597525608afba2b5b95004dacac0b8c7626	Non-syndromic @PHENOTYPICFEATURE$ and predisposition to @DISEASE$ can be caused by specific mutations in the 12S rRNA gene of mtDNA and are thus maternally inherited traits.	false
+3c1cd2cab113e2533c9cda34fe68a9d7f25179dc	Here we report that the frequency of a particular mitochondrial DNA polymorphism, 1555G, is associated nonrandomly with @DISEASE$ in two Japanese pedigrees, bringing the frequency of this polymorphism to 5 occurrences in 5 pedigrees of AGD, and in 4 of 78 sporadic cases in which @PHENOTYPICFEATURE$ was thought to be the result of aminoglycoside exposure; both frequencies are significantly different from the occurrence of this mutation in the hearing population, which was 0 in 414 individuals surveyed.	false
+97a7e03269eef7a7841d5dc52e60b482e0663b71	The human mitochondrial 12S rRNA gene mutation at position 1555 associated with non-syndromic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+28b7d4a8ecf3ef6e62d254290d7dc7e2747cdc42	Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, @PHENOTYPICFEATURE$, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient @DISEASE$.	false
+589fa9e7988179d6b33f34070bc1ea71a4a57b90	We report on a patient with atypical Silver-Russell phenotype comprising severe growth retardation, @PHENOTYPICFEATURE$, bilateral Duane anomaly and @DISEASE$ caused by maternal uniparental iso/heterodisomy (mUPD) of chromosome 7.	false
+8ec48d494aa9e4e3f9b8e20158d201315937e5a6	Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive @PHENOTYPICFEATURE$, mental retardation, cardiovascular anomalies, @DISEASE$, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits.	false
+527eb0badfa3e61b23f348d2338d9c21dd90285c	Recent studies demonstrate that SHP2-deficiency leads to @PHENOTYPICFEATURE$ including scoliosis and cartilaginous benign tumor @DISEASE$, suggesting that growth plate cartilage is a key tissue regulated by SHP2.	false
+bcc47f3b6f57021e30fe3cdf64b02cc70d0dbc06	Adie's syndrome (@DISEASE$) and paraneoplastic sensorimotor neuropathy with cerebellar ataxia (PSN CA) are extremely rare, rapidly progressive, autoimmune diseases associated with the development of antibodies against neuronal-specific Hu proteins that are abnormally expressed in @PHENOTYPICFEATURE$ (SCLC).	false
+a614a89d5ca5280efec27b976eb0be94d6b06f93	We report on a 5-month-old female with large and widely spaced anterior and posterior fontanelles, @DISEASE$, Tessier 3 oblique facial cleft, @PHENOTYPICFEATURE$, and syndactyly of toes.	false
+71039147cae7d8de56b9cc86df35fd0f2a88aa8e	The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, @DISEASE$ of the scalp, @PHENOTYPICFEATURE$, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings.	false
+2705f601d2d9f3d852886dc1763e7dd706e694f9	The anomalies and physical features that are discussed include birth parameters, @DISEASE$, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and @PHENOTYPICFEATURE$.	false
+8cc81cde0ec3b7810ddd3d6b990ee2c92fe25696	An infant with large fontanelles, @DISEASE$, tessier facial cleft, @PHENOTYPICFEATURE$ inversus, and toe syndactyly: a previously undescribed syndrome?	false
+c1e47c9d1226d7438c5c35b76c5e96940125c6e4	Prevalence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+1e9ddcb09be7445a90cc14f83dfc6bacc3d51b55	@DISEASE$, ptosis, @PHENOTYPICFEATURE$ and mental retardation: a new syndrome or a distal arthrogryposis variant?	false
+6e5380103e3f6c22d36922b67f17f2bcd00d82a7	@DISEASE$, @PHENOTYPICFEATURE$, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant?	false
+adbe6ff60dc855f78cd72a7c4adf24fc12881aea	Other features include facial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$, and abducted thumbs and toes.	false
+900de41360a1939ef9624d0858514cdcd9b3dea2	One had cleft lip, @DISEASE$, cataract, @PHENOTYPICFEATURE$, intraventricular hemorrhage, and hydrocephalus.	false
+22327f25aaf51c37aa0adc42c078adec3b2c7280	One had cleft lip, @DISEASE$, @PHENOTYPICFEATURE$, microphthalmia, intraventricular hemorrhage, and hydrocephalus.	false
+835dc1f8ac03d811dc452704238157cb0e9971df	[Association of @DISEASE$ and @PHENOTYPICFEATURE$ in children].	false
+4c9517e6bbd2fb6206318906302d8dfab9d82325	CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, @DISEASE$, anophthalmia/ @PHENOTYPICFEATURE$ and omphalocele.	false
+476dbfe2b38b87c8fd6053112ff9668eb2d61319	CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, @DISEASE$, @PHENOTYPICFEATURE$/ microphthalmia and omphalocele.	false
+3ce4018b5f0c46a51761379fc77acbf04f83b370	Camptodactyly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+151f35027541e217cd2fdc2739691fd18874661c	The malformations included microtia/anotia (15 infants), micrognathia (6), @DISEASE$ (3), conotruncal heart defects and aortic-arch abnormalities (8), thymic defects (7), retinal or @PHENOTYPICFEATURE$ (4), and central nervous system malformations (18).	false
+6816c4d75979720201d04220ec0d8308f13ea46c	The malformations included microtia/anotia (15 infants), micrognathia (6), @DISEASE$ (3), @PHENOTYPICFEATURE$ and aortic-arch abnormalities (8), thymic defects (7), retinal or optic-nerve abnormalities (4), and central nervous system malformations (18).	false
+9323ca92d9b627a6f33264fcbb9fa1374eeb54ba	The types of anomalies were microphthalmia, @PHENOTYPICFEATURE$ lens, abnormal retina, micrognathia, @DISEASE$, lordosis, fetal edema, variable hemorrhage, omphalocele, syndactaly and cryptochidism.	false
+224df0ca894ba5c0fb918a8d0b60fc23029d4a8e	The types of anomalies were microphthalmia, cataractic lens, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, lordosis, fetal edema, variable hemorrhage, omphalocele, syndactaly and cryptochidism.	false
+ee3436e5f3120b0cb7c3428a35471fe1780886b0	The types of anomalies were @PHENOTYPICFEATURE$, cataractic lens, abnormal retina, micrognathia, @DISEASE$, lordosis, fetal edema, variable hemorrhage, omphalocele, syndactaly and cryptochidism.	false
+82d621212f46faeb0e434b7e95db74fb8c5b2c85	NAM features include congenital weakness and arthrogryposis, @DISEASE$, ptosis, short stature, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia.	false
+761e42c948a5075229e06fd92fd4024a8d43700b	NAM features include congenital weakness and arthrogryposis, @DISEASE$, @PHENOTYPICFEATURE$, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia.	false
+7591b62928d48f67ed9fb7e2d518c19e93d89025	The clinical findings were: congenital cataract, @PHENOTYPICFEATURE$/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, @DISEASE$, atrial septal defect, ventricular septal defect, and skeletal anomalies.	false
+1b9d6ad9ceb74705b1f3ff0d65fadabcb035b224	The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, @PHENOTYPICFEATURE$, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, @DISEASE$, atrial septal defect, ventricular septal defect, and skeletal anomalies.	false
+aa97901b11599ea7003fa7fb683a9a0186499ef7	The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary @PHENOTYPICFEATURE$, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, @DISEASE$, atrial septal defect, ventricular septal defect, and skeletal anomalies.	false
+f5babd3464291a2f17097e5914a80f58d52ba966	Nontraditional applications of BoNT have been reported for the treatment of the following dermatological conditions: hyperhidrosis, @DISEASE$, Darier disease, inversed psoriasis, aquagenic palmoplantar keratoderma, pachyonychia congenita, multiple eccrine hydrocystomas, eccrine angiomatous @PHENOTYPICFEATURE$, eccrine sweat gland naevi, congenital eccrine naevus, Raynaud phenomenon and cutaneous leiomyomas.	false
+a1637a371b82d725662a3612fff56b9dbba2a290	The three patients were affected with @DISEASE$ accompanied by microcornea, @PHENOTYPICFEATURE$, and nystagmus.	false
+c46c99a0c62b7c3648584406b6e56dc828f950a8	@DISEASE$ associated with @PHENOTYPICFEATURE$ in three generations of the same family.	false
+539c7127fcd218186cfaf962f707d037eb8bc3a8	His son had @PHENOTYPICFEATURE$, @DISEASE$, foveal hypoplasia, and nystagmus.	false
+685df1f9cf88d70404e3c9f8d94ed1aee90ea572	We report a patient with incomplete @DISEASE$, @PHENOTYPICFEATURE$, hypospadias, and cryptorchism.	false
+ac2ba68f76bf3ef04d7bc2b3b6659121a61d01df	The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial @DISEASE$, @PHENOTYPICFEATURE$, and nystagmus.	false
+43aebc7ad97fcbbffa58623942f7ef327a5858d1	Ocular abnormalities included colobomatous @PHENOTYPICFEATURE$, @DISEASE$, and recurrent papillomas arising from the conjunctiva and lid margins.	false
+a314d58e802e17287860f5ab401374195375ef87	[Partial @DISEASE$ and hemeralopic retinopathy (associated with @PHENOTYPICFEATURE$, microcornea and papillary granules)].	false
+7c40f09eee59813327c0e263e259c109cd279463	Other less frequent anomalies are @PHENOTYPICFEATURE$/micophthalmia, limbal dermoid cysts and @DISEASE$.	false
+4bef76ef92399b0ae60712be0577d74442ee57b6	@PHENOTYPICFEATURE$ in Pax6+/- small eye mice mimic human @DISEASE$-related keratopathy.	false
+5254dc10e9e8c49649b3065d29fce339c6a12762	@PHENOTYPICFEATURE$ in Pax6(+/-) mice are similar to those in @DISEASE$-related keratopathy in PAX6(+/-) patients.	false
+747b6fce99d17f58b6c9d89b0b9e9eac7a7ccf3e	A genetic control of activity-induced energy expenditure (@DISEASE$) may contribute to a genetic susceptibility to @PHENOTYPICFEATURE$.	false
+93237f2e2eacad6c58ab96572c31bb4b81455f64	These data suggest the therapeutic potential of @DISEASE$ for @PHENOTYPICFEATURE$.	false
+33a97069b3b6780730627a263f0bab877c4bab28	The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-@PHENOTYPICFEATURE$, coarse hair, and @DISEASE$.	false
+dc3f8cba48c3aa0250f1fa37333819c1915f008b	Examination revealed generalized cutaneous thorn-like projections with nonscarring alopecia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ef3e6f726ca64cb47b7ac0f3b9ad8fbfebf5c92c	To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT) or autosomal dominant @PHENOTYPICFEATURE$ hypercalciuria (ADHH) for CaSR mutations and performed in vitro functional expression studies and three-dimensional modelling of mutations involving the VFTD.	false
+b153beca3a0b06ea93f49a8e94d2cc50658c9a16	Although maternal postpartum depressive symptoms (@DISEASE$) are associated with child @PHENOTYPICFEATURE$, the underlying biological mechanisms are poorly understood.	false
+c7ba0fe9e5ea1004a93d067984dcc540bc0506c8	@PHENOTYPICFEATURE$ congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/@DISEASE$ genes.	false
+6e95c60ca359a01dc62c589d99ef6678d793b907	In the current study the authors assessed the antitumor activity (including response rate, duration of response, and survival) and toxicity profile (including anorexia, fatigue, emesis, and @PHENOTYPICFEATURE$) of a combination of paclitaxel, ifosfamide, and carboplatin (TIC) in patients with recurrent or metastatic @DISEASE$ (SCCHN).	false
+4d585c97e5cb62f6412a23bae3314486ae77402d	@DISEASE$ is a hemoprotozoal tick-borne disease that is commonly associated with thrombocytopenia and @PHENOTYPICFEATURE$; however, renal involvement has been documented in dogs.	false
+e10eca5f9ae00a01dbec42e82834dee41f10c5ed	We report a rare case of @DISEASE$ in a HIV positive patient who presented with multiple @PHENOTYPICFEATURE$.	false
+feebaeaea47c6ebd03c604980e6054a24c601ebf	@DISEASE$ is inherited as an autosomal recessive trait and most commonly presents with chylomicronaemia, @PHENOTYPICFEATURE$, and eruptive xanthomata.	false
+a541099e13d6b0fb290f0c3d29204a5d46102c73	Familial @DISEASE$ usually presents with eruptiva xanthomas, @PHENOTYPICFEATURE$, pancreatic manifestation and lipemia retinalis.	false
+632a2be1e3c1ae9b45d0d7b6d35ead7072ad8a70	@DISEASE$ is a rare, autosomal-recessive disorder of lipoprotein metabolism that is characterized by severe hypertriglyceridemia with episodes of @PHENOTYPICFEATURE$, acute pancreatitis and eruptive cutaneous xanthomatosis.	false
+c303e7b05810e9478b7ec0c85862368fcc6415d9	We conclude that @DISEASE$ must be considered in neonates and young infants with @PHENOTYPICFEATURE$ and hypertriglyceridaemia because early treatment might prevent development of life-threatening acute pancreatitis.	false
+c178693bb5d9e83dd8693fb03a7f9523b9b52a70	@PHENOTYPICFEATURE$ skin papules caused by concomitant Acremonium and @DISEASE$ in a neutropenic child.	false
+98994a36919e2c978955d006e304a22c6125bc02	@DISEASE$ is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac @PHENOTYPICFEATURE$.	false
+2e73e325e9ad1b3c75faa9d88c43b9d34ea5e55c	The spectrum of neurological diseases were stroke 64.9%, @PHENOTYPICFEATURE$ (21.8% ), HIV related neurological diseases 3.5%, hypertensive encephalopathy (3.4%), dementia (3%), subarachnoid haemorrhage (2.2%), Guillian @DISEASE$ (1.2%), Parkinson's disease (1.1%), myasthenia gravis (1.0%), motor neurone disease and peripheral neuropathy and accounted for 0.8% and 0.6% respectively.	false
+3819b9e24ea95132b393175ad16b803fd5177e9c	The spectrum of neurological diseases were stroke 64.9%, central nervous system infections (21.8% ), HIV related neurological diseases 3.5%, @PHENOTYPICFEATURE$ encephalopathy (3.4%), dementia (3%), subarachnoid haemorrhage (2.2%), Guillian @DISEASE$ (1.2%), Parkinson's disease (1.1%), myasthenia gravis (1.0%), motor neurone disease and peripheral neuropathy and accounted for 0.8% and 0.6% respectively.	false
+b9d1bbb223a563dc81b02fb8837efb7a2caec26a	A rare case of 3C disease: @DISEASE$ presenting with recurrent @PHENOTYPICFEATURE$.	false
+d11007e09c05fabdc4f6266f45a2ebf999757b91	Bilateral microphthalmia with cyst, facial clefts, and @PHENOTYPICFEATURE$: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and @DISEASE$.	false
+313139f698c977d1b09a49d316c39abe90ae0d2b	One hundred consecutive patients of whom 80 (80%) had benign @PHENOTYPICFEATURE$, 4 (4%) had borderline lesion and 16 (16%) had invasive @DISEASE$ were included in the study.	false
+e995f0c74dd9517f8d320898cc40e4340f4525ce	A translational research continuum exists with familial breast and @DISEASE$ at one end and @PHENOTYPICFEATURE$ at the other.	false
+b094d1473356b41e7795fda0c4ce4e407f880c82	An understanding of the molecular pathogenesis and @PHENOTYPICFEATURE$ of @DISEASE$ holds promise for the development of early detection strategies and novel, efficient therapies.	false
+2e5ca3e7c6f618d933aa9a575c0d51d04c249812	A 50-year-old female with @DISEASE$ for 4 years presented with @PHENOTYPICFEATURE$.	false
+d07703995547c34f6c5cd4d0804c9bd015098a58	Out of 10 cases of @DISEASE$, 2 patients showed either bleeding or @PHENOTYPICFEATURE$, while 8 patients were asymptomatic.	false
+7de824ed95dab40683d58b819467e805321f8c8e	A 55-year-old Caucasian?woman with advanced @DISEASE$ awaiting elective debulking surgery for her tumor presented to our emergency department with @PHENOTYPICFEATURE$, vomiting, and diarrhea.	false
+56e6554807bc27e948e5b0c550c85cbd9084b428	A 55-year-old Caucasian?woman with advanced @DISEASE$ awaiting elective debulking surgery for her tumor presented to our emergency department with abdominal pain, @PHENOTYPICFEATURE$, and diarrhea.	false
+8541095e464fb8251679a3f86e36c9ea629b46b7	The possibility of @DISEASE$ must be considered for any woman who presents with new, persistent, nonspecific @PHENOTYPICFEATURE$.	false
+762d39e9d0504d259a170b40542aa8f1fb2ce845	Challenges and choices: an audit of the management of nausea, @PHENOTYPICFEATURE$ and bowel obstruction in metastatic @DISEASE$.	false
+5080639fba480fd166a3ed19121f02bdfe0b2f23	Obesity probably also increases the risk of @DISEASE$, advanced @PHENOTYPICFEATURE$, gallbladder cancer, and gastric cardia cancer.	false
+236e0300647ec5c924cb45398c71d7fdbc4d6c07	Earlier consideration of @DISEASE$ in the differential diagnosis of young girls with @PHENOTYPICFEATURE$ is important.	false
+a092a10d320940966cf8084a9026ae63e66405e5	@DISEASE$ (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal @PHENOTYPICFEATURE$, narcolepsy-cataplexy and dementia.	false
+48062455e7053e1177f855c3cc0b33b1319dd11f	Missense mutations in the DNMT1 gene have been previously associated with two neurological syndromes: hereditary sensory and autonomic neuropathy type 1 with dementia and @PHENOTYPICFEATURE$ (HSAN1E) and @DISEASE$ (ADCA-DN).	false
+34865ff17ba4f84b65054a112cb44d9f0f3c7b3a	The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (@DISEASE$); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/@PHENOTYPICFEATURE$.	false
+3a27878e2fdbc22277ab2ea23cc37a2f244e7bfa	The typical malformative pattern of MMF embryopathy includes external @PHENOTYPICFEATURE$ ranging from hypoplastic pinna (microtia) to complete absence of pinna (@DISEASE$); cleft lip, with or without cleft palate, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia.	false
+22a95e762b1b88c6cf4a000497776eab38ae7754	Relatively common birth defects for which there are currently no published GWAS include neural tube defects, @DISEASE$/microtia, anophthalmia/@PHENOTYPICFEATURE$, gastroschisis, and omphalocele.	false
+6d592c65ce3b57a502648966a57facd585fcb124	Relatively common birth defects for which there are currently no published GWAS include neural tube defects, @DISEASE$/microtia, @PHENOTYPICFEATURE$/microphthalmia, gastroschisis, and omphalocele.	false
+f7830796d144c5d37a7fa8689e6ad14896544a89	This data brief provides recent prevalence estimates for anophthalmia/@PHENOTYPICFEATURE$, congenital cataract, and @DISEASE$/microtia that address a data gap by examining pooled data from 30 population-based surveillance systems, covering a five-year birth cohort of about 12.4 million births.	false
+35cb89ff7d1dc23295620ebfd7291c6799391fb3	Oto-mandibulo-facial dysostosis is a term used for a unilateral congenital birth defect in which abnormalities can range from minor unilateral @PHENOTYPICFEATURE$ or preauricular tags to severe ones involving @DISEASE$ and mandibular hypoplasia.	false
+fbf4b5671d786287851e1ec31e135f86249e203b	Seventy-four had external @PHENOTYPICFEATURE$ (@DISEASE$ or microtia).	false
+aec599fb0ef8560b36d6cd649ae5f2b23b78441d	Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/@PHENOTYPICFEATURE$ and @DISEASE$/microtia.	false
+e6b5b029d4d2ba03912a76864528822ec39655d8	The latter group and the dominant disorders (anury, @PHENOTYPICFEATURE$, glomerulonephritis, and lethal grey in sheep; gynecomastia and @DISEASE$-microtia complex in goats) are easy to eliminate through selective breeding.	false
+9d21f06f78d69f281ba4fd580cae2e2fd65bfe90	Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/@PHENOTYPICFEATURE$ (1.9 vs. 1.2) and two-fold higher for @DISEASE$/microtia (2.6 vs. 1.2).	false
+736c6c853649f7b552c00d046e126532ba67819b	@DISEASE$ (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) leading to hyperphosphatemia, hypocalcemia, elevated PTH, and @PHENOTYPICFEATURE$ bone changes.	false
+8afac7dd16b7957b105b885651b61cd3ac17c93e	This paper describes three additional patients in two unrelated families: (1) an 8-year-old boy whose mother has mild @DISEASE$ and several minor @PHENOTYPICFEATURE$ that have occurred in patients with the syndrome; and (2) two maternal half-brothers.	false
+2ea77adac85e777ada85c38bec1f33beed2eb49f	Mutations that affect primary cilia are responsible for several diseases, including @PHENOTYPICFEATURE$, @DISEASE$, retinal degeneration, and cancers (Badano et al., 2006; Singla and Reiter, 2006).	false
+eabcb104e4fa4c929b645c4bf4399eacdf4309d1	The primary cilium is a nexus of cell signaling, and ciliary dysfunction is associated with @DISEASE$, retinal degeneration, polydactyly, @PHENOTYPICFEATURE$, and obesity (ciliopathies).	false
+90434abfdb3e329076746b4a0a077d5bdf5ce63f	A 67-year-old woman with end-stage renal disease (@DISEASE$) who had been on dialysis for 10 years came to our department for a second opinion about upper left arm @PHENOTYPICFEATURE$ homolateral to the arteriovenous fistula (AVF).	false
+da04d91fe4c746a9c65cf7dd681c7afcfb8b7ec2	Refractory hypotension and @PHENOTYPICFEATURE$ caused by right atrial compression in a woman with @DISEASE$.	false
+864c46bc63bfce58f3d46fa80421738472550ce5	This new appreciation of primary cilia as cellular antennae that sense a wide variety of signals could help explain why ciliary defects underlie such a wide range of human disorders, including retinal degeneration, @DISEASE$, Bardet-Biedl syndrome, and @PHENOTYPICFEATURE$.	false
+66965138f89fddce25ab937e9656689978b5c0dc	Homozygous @DISEASE$ deficiency can cause neonatal @PHENOTYPICFEATURE$; in adults end-stage liver disease, cirrhosis and hepatocellular carcinoma can develop.	false
+3674e377812755f8f8400d4613e39290c39d262e	Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial @PHENOTYPICFEATURE$, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [@DISEASE$], three with partial AIS and four with 5? reductase deficiency).	false
+5e8374bceefc65c6b0ee6c4d96d8dd9dc5a87c63	Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial @PHENOTYPICFEATURE$, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial @DISEASE$ and four with 5? reductase deficiency).	false
+5ce31f569c2608dce08b65887dd777088765a338	A total of 124 females were classified as having 46,XY DSD, 78 with @DISEASE$ and 25 with @PHENOTYPICFEATURE$, whereas the remaining subjects had a variety of different diagnoses.	false
+aa72d2f9e21d29f0160977a22b24696f9a958c08	Studies investigating the association of dysphagia and early @PHENOTYPICFEATURE$ screening (EDS) with outcomes in patients with acute ischemic stroke (@DISEASE$) are rare.	false
+b56bdbed5f1c4352b47ef1a70946cb0bdda3071d	Besides @PHENOTYPICFEATURE$, total time of operation is a risk factor of SAP in patients with @DISEASE$ with IAT.	false
+f385a3b5b06fdc4b4d20f16bdbe4383248438326	The prevalence of 46,XY females was 6.4 per 100 000 live born females, and for @DISEASE$ and @PHENOTYPICFEATURE$, it was 4.1 and 1.5 per 100 000, respectively.	false
+a3f1faa63b93d0a65ad9faa0352f050406d4f725	Significant features associated with decreased odds of @DISEASE$ included older age, @PHENOTYPICFEATURE$, visual, sensory, other symptoms, and absent focal signs on assessment (p<0.05).	false
+2ba76e71b07a1bae35f67ae910e02dd54049cae6	The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (@DISEASE$), and @PHENOTYPICFEATURE$.	false
+d351da1472de6312ecc66b2bb89accd59e9e4125	These are the candidate genes for testicular or ovotesticular XX DSD and XY DSD, the latter of which includes @PHENOTYPICFEATURE$, androgen insensitivity syndrome (@DISEASE$), persistent Mullerian duct syndrome and isolated cryptorchidism.	false
+c8448a4cf1d4f6f9d1e86e9771c1737644d0d99c	In conclusion, our findings suggest that both baPWV and ABI are suitable complementary tools for TCD in early diagnosis of intracranial @PHENOTYPICFEATURE$/occlusion in @DISEASE$ patients and that these combinations may assist in facilitating the diagnostic process associated with this disease.	false
+b9c93ee3b4f377756b7e16b049685723d3517d38	A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, @DISEASE$, hypoplastic kidneys with @PHENOTYPICFEATURE$, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in 4 children from 3 families of New Mexican Hispanic heritage.	false
+9aeff543dad61e33950ddefdd0f32ac26c099f54	Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, @DISEASE$, pemphigus, rheumatoid arthritis, @PHENOTYPICFEATURE$, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura.	false
+9c4706159454b695ebb5d1cbb0921f19ef2f5c36	In this report, we present 2 cases with hypoparathyroidism and 1 case with hyperparathyroidism who developed spondylarthropathy-like disease, @PHENOTYPICFEATURE$-like disease, and @DISEASE$, respectively.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+904d1aa8d6e718ecf0a2e6fe26f3f723f77d4785	Calcium pyrophosphate dihydrate (CPPD) crystal induced arthropathy (CPPD-CA; systemic articular @DISEASE$) characterized by deposition of CPPD-crystals in fibro- and hyaline cartilage, joint capsule and periarticular tissues is associated with a variable clinical spectrum of inflammatory degenerative and occasionally destructive joint and vertebral manifestations including neurologic complications and rarely tophaceous-@PHENOTYPICFEATURE$ tissue calcifications.	false
+6e7d0bb4c8b439fe601e1fe80a2e1eabf34cab65	@PHENOTYPICFEATURE$ calcium pyrophosphate dihydrate crystal deposition is a rare manifestation of @DISEASE$ (CPPD).	false
+c05d3c8399c1343f06824516e99dfc04026dd4ed	@PHENOTYPICFEATURE$ @DISEASE$ is characterized by smaller, round, masses typically in ligamentous structures which may erode into adjacent bone.	false
+27860757750f688c66cec0401af359cf5bdce344	We present a case of tumoral @DISEASE$ that could have been mistaken for a malignant @PHENOTYPICFEATURE$ without knowledge of the clinical course due to the high vascularity of the tumour.	false
+6ce0883713538a60da8fb8247f595c85ffaa8739	We present a case of tumoral @DISEASE$ that could have been mistaken for a malignant tumour without knowledge of the clinical course due to the high vascularity of the @PHENOTYPICFEATURE$.	false
+67a64d121512748b1bd5d92b91d7c631a615a1f0	@PHENOTYPICFEATURE$ calcium pyrophosphate dihydrate (CPPD) crystal deposition disease (CPPDCD), also known as tophaceous @DISEASE$ (CPDD), is a tumorlike lesion, and it should be distinguished from usual CPDD that causes severe joint inflammation and arthralgia.	false
+f7e5fedc60f704c3404953d8512c6697ed2bd438	Cases of pseudogout (@DISEASE$) in patients with @PHENOTYPICFEATURE$ have been seen rarely in the literature.	false
+951e9ded6b40fa3e4e851f746297bd0df2d814b2	Hyporeninemic @PHENOTYPICFEATURE$, sodium wasting and @DISEASE$ in two patients with obstructive uropathy.	false
+5d4d88f3bba6e0fbc68c5c141634a2a56f209057	We describe a case of @DISEASE$ in a 13-year-old girl with multiple tubular dysfunctions including renal @PHENOTYPICFEATURE$, tubular proteinuria, phosphaturia, uricosuria, and concentrating and acidifying defect.	false
+69e23c2bb8d2d9638ecec8ea0fd4433568f8aa1c	isolated hemihypertrophy; sporadic aniridia, which is almost always associated with del(11p13); @PHENOTYPICFEATURE$, particularly male pseudohermaphroditism and the Denys-Drash syndrome; and more weakly associated or uncommon conditions, such as neurofibromatosis and @DISEASE$, respectively.	false
+a46c4d4cb003d0862049b5812236e10cd33620bd	Our study establishes 3' oligouridylation as an RNA decay signal for Dis3l2, and identifies the first physiological RNA substrate of this new exonuclease, which is mutated in the @DISEASE$ of fetal overgrowth and causes a predisposition to Wilms' @PHENOTYPICFEATURE$ development.	false
+94aee5991c46147031c2628108370bdfcc4d36a1	GS2 is a rare autosomal recessive disease characterized by @PHENOTYPICFEATURE$, variable @DISEASE$ with HLH.	false
+49edec173b4c3290563f5841f34667f5c33596e0	A sun-sensitive, erythematous facial skin lesion, an excess of well-demarcated hyper- and @PHENOTYPICFEATURE$ lesions located anywhere on the body, and increased numbers of bacterial infections due to @DISEASE$ are accompanying features of diagnostic value.	false
+aace1c014bd5d8fb38436109fb63e94dbef437aa	A sun-sensitive, @PHENOTYPICFEATURE$ facial skin lesion, an excess of well-demarcated hyper- and hypopigmented skin lesions located anywhere on the body, and increased numbers of bacterial infections due to @DISEASE$ are accompanying features of diagnostic value.	false
+143b1747a6f6d4978b47c674e6a7bc1cd1feda21	Oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?	false
+fa508978eff17f2fe50fed56539958fc776b1501	Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous @PHENOTYPICFEATURE$, and @DISEASE$.	false
+745d1a2b3fad618666a6170caaf08f33ba66cf9f	We studied a patient with @PHENOTYPICFEATURE$, neutropenia, @DISEASE$, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency.	false
+3936d7678586e62b2977ddad5fa7433a30c5ff72	We studied a patient with albinism, neutropenia, @DISEASE$, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with @PHENOTYPICFEATURE$ and immunodeficiency.	false
+956f16b6c1958bcb41100c6f0e1d4c2b44f2b08f	We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a2ca8feb1104b9d195cb0e81d16f0ba1036c90a5	We studied a patient with @PHENOTYPICFEATURE$, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and @DISEASE$.	false
+163694be74b61cbaa34e031a0cb9a0bc884cdf4b	It is characterized by cutaneous @PHENOTYPICFEATURE$, @DISEASE$, and hemophagocytic lymphohistiocytosis.	false
+57cc3da6b65179b5dce06723dfe9a0a5dce6c5b9	Bloom syndrome is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, photosensitivity, @DISEASE$, hypogonadism and a tendency to develop various malignancies.	false
+ba3c7224577f488b69e242bf55d7c0b8b8384cf6	Herein we report on three affected individuals who presented with severe seizures, developmental delay, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0cb77899a8749073b47c87ea240f7b437730e61d	Partial oculocutaneous albinism and @DISEASE$ (OCA-ID) diseases are autosomal recessive syndromes characterized by partial @PHENOTYPICFEATURE$ and recurrent infections.	false
+629332b9c66f80316ec69e7bee1658a904bc11dd	Partial oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$ (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections.	false
+6b73b76d060b312178cb2f1ee8a96dcddf2b251d	Clinical, laboratory and molecular signs of @DISEASE$ in patients with partial oculo-cutaneous @PHENOTYPICFEATURE$.	false
+c3e26d8f24441c773644542fbad6fdf2b60962e2	The most common upper @PHENOTYPICFEATURE$ was radial ray deficiency (138), followed by subgroups of undergrowth (91), upper limb defects due to @DISEASE$ (51), central ray deficiency (41), and ulnar ray deficiency (33).	false
+f10215035b4bea188ca420ad010798924fab5f59	@PHENOTYPICFEATURE$ during sleep is a common finding in @DISEASE$ (CF) patients with more advanced lung disease.	false
+e84d7aa87a67b63125390df057870a9de917753f	Systemic P. aeruginosa usually complicates debilitating conditions like @PHENOTYPICFEATURE$, burns and @DISEASE$.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+5dc17bf24250ef125a4796d5df5fac8c4ac206bb	Relative @PHENOTYPICFEATURE$ and iron deficiency in @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+da1660cd35927934971ada6871d16ce228b78a6c	Sleep @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+662c902746bb4c8239e3425518d6c7fe81fee4bc	Sleep @PHENOTYPICFEATURE$ in young adults with @DISEASE$.	false
+22dc655a5af9d3ff253f8178a6dfe8579547ddc7	@PHENOTYPICFEATURE$ and hypercapnia during exercise and sleep in patients with @DISEASE$.	false
+3bffa00422792f6ebc098bd0165ce23b8555d4e0	Nasal polyps typically present with nasal congestion, nasal obstruction, and @PHENOTYPICFEATURE$ or hyposmia, and occur more frequently in patients with persistent asthma, aspirin-exacerbated respiratory disease (AERD), CRS, and @DISEASE$.	false
+40baba890bfc80c286a42417eac4fda13bea5d14	@DISEASE$ (CF) patients may develop @PHENOTYPICFEATURE$ during sleep.	false
+e7e539a5cd7c2d3a3695f22ec5b5da4e0ecdc809	A syndrome of @DISEASE$, @PHENOTYPICFEATURE$, and cataracts.	false
+604ebce3571ef0f620a172ce5e5f1e36c2e98b33	@DISEASE$ was confirmed by @PHENOTYPICFEATURE$, presence of wormian bones in the skull, blue sclera, and tooth defects.	false
+7a49fdf2842b582e38263b578b6d85f1d258555c	In a polysomnographic study of 32 neuromuscular patients-22 with a form of muscular dystrophy, 3 with a form of congenital myopathy, 4 with a form of spinal muscular atrophy, 1 with a recurrent form of polymyositis and 1 with @DISEASE$ syndrome--of which 21 were nonambulatory, we observed sleep related respiratory disturbances represented by: drops in oxygen saturation (SaO2), @PHENOTYPICFEATURE$, sleep disruption, apneas, tachypnea, tachycardia and snoring.	false
+29b91e6f694109b0a91d0d96f92f22aef76f52b7	The published literature suggests OI is most frequently confused with CAN, although @PHENOTYPICFEATURE$, disorders of phosphate metabolism, and temporary @DISEASE$ are also documented in the literature identified by our search.	false
+ded17570c279a7608e214aa07d5ae575cddfaaae	@DISEASE$ is an extremely rare form of type II collagenopathy associated with cleft palate, @PHENOTYPICFEATURE$, shortened trunk, arms and legs, and club foot.	false
+22383c3785c299aef378db01a63827b4de25e9d1	@PHENOTYPICFEATURE$ as a side effect of ketanserin therapy in a patient with @DISEASE$.	false
+1619fa08789dd6b4f2db52ca72b39b837b631e0d	@DISEASE$ (SSc) is an inflammatory disease that decreases functional capacity through @PHENOTYPICFEATURE$, skin sclerosis and loss of joint function.	false
+4e86088f1bfab738ea5bbbd74dad6a00147eeb6e	[Undifferentiated bronchopulmonary carcinoma associated with @DISEASE$ and @PHENOTYPICFEATURE$ lanuginosa.	false
+9779464fffaaae0a1026d016a27ddce805ec33b3	Association of @PHENOTYPICFEATURE$ disorders with digital ulcers in @DISEASE$: Analysis of a cohort of 239 patients.	false
+072d729c22ae21612cc307aabe9a88a83e790015	She had photosensitive skin of early onset, @PHENOTYPICFEATURE$, and severe @DISEASE$-like lesions of the hands.	false
+e4904044ef37f2d46fc4d16e27cd5947baf4cc47	She had @PHENOTYPICFEATURE$ of early onset, hypertrichosis, and severe @DISEASE$-like lesions of the hands.	false
+22029a80c672fdabc09451ef0bc283f03841e768	Stiff skin syndrome is a rare @DISEASE$-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild @PHENOTYPICFEATURE$ and limited joint mobility.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+6f70bab969f76c27676d33e9363d900b56f423b0	A 27-year-old, full-term pregnant woman with progressive systemic sclerosis (@DISEASE$) came to the hospital with marked proteinuria and @PHENOTYPICFEATURE$.	false
+05027b34ddb5f025ecf0c6296195e50d13cf4874	A 27-year-old, full-term pregnant woman with @DISEASE$ (PSS) came to the hospital with marked proteinuria and @PHENOTYPICFEATURE$.	false
+a03a86f657e05ddce32f0a7f087a674813a988c3	The role of @PHENOTYPICFEATURE$ in @DISEASE$ and other leukoencephalopathies.	false
+56898a83f05830bd7fca337afc8f65dd95fc81d0	In @DISEASE$ (SSc; scleroderma) patients in edematous phase, hand @PHENOTYPICFEATURE$ is often present.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+af68a2941af62e7b48374078521c03eb88391396	Postpartum abdominal distention and meconium ileus may occur due to @PHENOTYPICFEATURE$, Hirschprung disease or @DISEASE$.	false
+3b44a1440305244b2426637dea1568297a34b367	Children with @DISEASE$ (CF) frequently have @PHENOTYPICFEATURE$.	false
+1ee15d0a5fb48bc938a4102528191e35f6fd6e84	@DISEASE$ per se can sometimes lead to hyponatremia, @PHENOTYPICFEATURE$, hypochloremia or hyperbicarbonatemia.	false
+fe634ec8c2b23abdee00742bc3f5637d552d300f	Bacterial @PHENOTYPICFEATURE$, dysbiosis, inflammation, and dysmotility in the @DISEASE$ intestine.	false
+8bdfd8caa74c93e9fc817e62861a84c0f4542ff2	@DISEASE$ and @PHENOTYPICFEATURE$: a case report.	false
+7d76301980ed33ea8f28cbb1a59078e8f04f3b14	@DISEASE$, @PHENOTYPICFEATURE$).	false
+5bf3cbaafd8242dc7632d25eafce43f17bf0e75e	@DISEASE$ complicated by @PHENOTYPICFEATURE$.	false
+71de0af02f15f90c2dd9c60fb32d22f22211618c	patients with @DISEASE$ commonly have severe malnutrition and @PHENOTYPICFEATURE$.	false
+ed88b81b1d978aedb0f7299ed16874d9b732abd9	Patients with @DISEASE$ (CF) have recently been deemed highly susceptible for bacterial intestinal @PHENOTYPICFEATURE$ (BIO).	false
+7a55a11c849dec86c4f08fa281fbf9f2b92ab11c	Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), @PHENOTYPICFEATURE$ (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and @DISEASE$ (5.9%).	false
+624acf2c9833c3fa21e166dee86cf3b7498fc676	Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), @PHENOTYPICFEATURE$ (5.9%), anisometropic amblyopia (5.9%), and @DISEASE$ (5.9%).	false
+c0ed79881981265ffc3c342b3b9e07ed291e8cd3	Trauma, (45%) @DISEASE$/@PHENOTYPICFEATURE$ (10%) and prior ocular surgery (25%) were significant risk factors for RRD.	false
+db810957ca63b07e10332a563133e893967367c1	In addition, they presented @PHENOTYPICFEATURE$, facial dysmorphism, extreme @DISEASE$ and brachytelephalangy with short and broad finger-nails.	false
+e236e96719e7f5c6d550bbe3f2375ee1bf2116ef	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable @PHENOTYPICFEATURE$, hypertrichosis, nevus flammeus, severe @DISEASE$, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+149d7c93bd1272547cbd60416747d70c09adb468	Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, @PHENOTYPICFEATURE$, nevus flammeus, severe @DISEASE$, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues.	false
+2808eff8a8d7d5bd1910f4ce5b6cb0086fde4da3	We conducted a ten-year follow-up of an unusual pedigree with an autosomal recessive @PHENOTYPICFEATURE$, severe @DISEASE$, and congenital encephalocele.	false
+271ef7efd4b4588016bfaaeaee9b00b29305d132	In addition, @DISEASE$, @PHENOTYPICFEATURE$ and growth retardation were observed.	false
+fb303db7ec6238298193d94f592685797a298636	His mother had @DISEASE$, mild lumbar lordosis, and mild @PHENOTYPICFEATURE$.	false
+b3c856abd638eda0b67b6a388d1e670e13562644	To report a possible rare association of bilateral @PHENOTYPICFEATURE$ (RPI) with unilateral high @DISEASE$ with fellow eye optic disc pitting.	false
+5f430ac861372089e29d86a11b29061965d46052	The most important ocular findings were: high @DISEASE$ (80%), lens subluxation (70%), exotropia (50%) and @PHENOTYPICFEATURE$ (80%) including vitreous cavity (50%).	false
+92fb756d11de9e63b53047e338762205318dbbe6	Associated defects include: growth retardation, @PHENOTYPICFEATURE$, strabismus, bilateral epicanthus, @DISEASE$, hypertelorism and abnormalities of external ear.	false
+d7cb88ddef4ed06d41a0c403329a25e8f999d2b3	Associated defects include: growth retardation, microcephaly, strabismus, bilateral @PHENOTYPICFEATURE$, @DISEASE$, hypertelorism and abnormalities of external ear.	false
+e3ac1d41f0688b031c4b2970aa46609c8f0f1131	[Sphenoethmoidal meningoencephalocele associated with @PHENOTYPICFEATURE$ and @DISEASE$ cleft lip and palate--report of two cases (author's transl)].	false
+92ac4a170bf63a9c7910c19a8259358d74046370	There was a trend for higher rates of @DISEASE$ disorders among subjects with @PHENOTYPICFEATURE$.	false
+eecce259e4b795c58ac18475e8f46ef4642beaf2	[Remarks on psychomotor education in @DISEASE$ level @PHENOTYPICFEATURE$].	false
+168cda0190f30aa0579855e3cdf262354c87db7a	Chronic osmotic stress, i.e., exposure to hypotonic or @PHENOTYPICFEATURE$ @DISEASE$ for 24 h, reduces and increases mTOR activity in ELA cells, respectively.	false
+05a66905c8b4fddbce4774bf83c1851ea4284f93	Failures usually were due to concurrent @DISEASE$ disease or @PHENOTYPICFEATURE$.	false
+cc06709c85a4efca6870dfd0b07fe6fca13ff152	Bilateral radiographic irregularities and deformities of the proximal femoral epiphyses are features of both @DISEASE$ and bilateral idiopathic @PHENOTYPICFEATURE$.	false
+3fc07bd9f78c321fe528dbcdf86704648c89f7ab	Sphenoethmoidal meningoencephalocele associated with @PHENOTYPICFEATURE$ and @DISEASE$ cleft lip and palate.	false
+f2469e85fcbbedc5061832998c2221180d30e466	Pediatric blood culture: comparison of yields using aerobic, anaerobic and @PHENOTYPICFEATURE$ @DISEASE$.	false
+c7e21911865a9d5c171bcf5230d56d36530628b0	Such mechanism explains the radiosensitising action of "membrane-active drugs", @PHENOTYPICFEATURE$ @DISEASE$, and other agents that affect nuclear translocation of proteins.	false
+7e88b6dcca6513dbb9d7fae90a309fd83440fb2a	@DISEASE$ (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, @PHENOTYPICFEATURE$, scoliosis, and brachydactyly.	false
+47c6b5c7d2241d39eaa5ba537b4a94008b5c4504	Multiple epiphyseal dysplasia (@DISEASE$) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, @PHENOTYPICFEATURE$, scoliosis, and brachydactyly.	false
+e8bf9de7d67cd74379033e8b71e173dd1c493079	A wide range of clinico-radiological findings of congenital @DISEASE$ were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and corpus callosum abnormalities, intracranial calcifications, ventriculomegaly, brain stem and cerebellar malformations, spinal cord involvement, and @PHENOTYPICFEATURE$.	false
+ea1cd8b743b66a14e0c55ba84e4bcc8e88606749	A wide range of clinico-radiological findings of congenital @DISEASE$ were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and corpus callosum abnormalities, @PHENOTYPICFEATURE$, ventriculomegaly, brain stem and cerebellar malformations, spinal cord involvement, and joint contractures.	false
+92b221afc874aa4babed03dd5b669b3dcfbdb288	Congenital Zika syndrome is a recently recognized pattern of congenital anomalies associated with @DISEASE$ during pregnancy that includes microcephaly, @PHENOTYPICFEATURE$ or other brain anomalies, or eye anomalies, among others (2).	false
+fb891a240aa21d0bf970a94eb4b1aec36346152e	Congenital @DISEASE$ syndrome is a recently recognized pattern of congenital anomalies associated with Zika virus infection during pregnancy that includes microcephaly, @PHENOTYPICFEATURE$ or other brain anomalies, or eye anomalies, among others (2).	false
+e9b0ba309010882fde582e45168992e10b568ff6	Pregnant women with a history of travel to an area with Zika virus transmission and who report two or more symptoms consistent with Zika virus disease (acute onset of fever, maculopapular rash, arthralgia, or conjunctivitis) during or within 2 weeks of travel, or who have ultrasound findings of fetal microcephaly or @PHENOTYPICFEATURE$, should be tested for @DISEASE$ in consultation with their state or local health department.	false
+d6b58d751d3e3bb05154bb8743c87d700ef9fd93	Pregnant women with a history of travel to an area with Zika virus transmission and who report two or more symptoms consistent with @DISEASE$ (acute onset of fever, maculopapular rash, arthralgia, or conjunctivitis) during or within 2 weeks of travel, or who have ultrasound findings of fetal microcephaly or @PHENOTYPICFEATURE$, should be tested for Zika virus infection in consultation with their state or local health department.	false
+d3cae1b941cdc60911baea9d689f7f821f81ccd4	Few findings by ultrasound and pathology were found in case 1 because it was a late infection; the other cases presented findings corresponding to congenital @DISEASE$ syndrome: craniofacial malformations, @PHENOTYPICFEATURE$, anomalies of the corpus callosum and ventriculomegaly, all confirmed in autopsy specimens.	false
+8a98ffcb8c368625b14326ac309aacb8b88f4922	Patients who underwent imaging at IPESQ were included, as well as those with documented @DISEASE$ in fluid or tissue (n = 17, confirmed infection cohort) or those with brain findings suspicious for Zika virus infection, with @PHENOTYPICFEATURE$ (n = 28, presumed infection cohort).	false
+70003d59eb597232193fcfb7504c6403f265bfe3	Patients who underwent imaging at IPESQ were included, as well as those with documented Zika virus infection in fluid or tissue (n = 17, confirmed infection cohort) or those with brain findings suspicious for @DISEASE$, with @PHENOTYPICFEATURE$ (n = 28, presumed infection cohort).	false
+041713e4c60c4249ebc341bde3662a510bde69c7	Differential diagnosis of pathological @PHENOTYPICFEATURE$ in patients with microcephaly related to congenital @DISEASE$.	false
+5af9384f066125e00fd795cc8593f2ffd98414df	Offspring did not show congenital @DISEASE$ syndrome (e.g., microcephaly, @PHENOTYPICFEATURE$, congenital clubfoot, arthrogryposis, seizures) or other visible birth defects.	false
+a62388590cf924bd6adf6a13cbf445d31482ce2d	A congenital @DISEASE$ syndrome (CZS) has been characterized with 5 distinctive features that focus on brain development abnormalities (including microcephaly and @PHENOTYPICFEATURE$), retinal manifestations, and defects on extremities including congenital contractures and hypertonia.	false
+75a9a22cddd05e36178e5cba4e47093eb41a52fc	Zika virus testing is recommended for 1) infants with microcephaly or @PHENOTYPICFEATURE$ born to women who traveled to or resided in an area with Zika virus transmission while pregnant; or 2) infants born to mothers with positive or inconclusive test results for @DISEASE$.	false
+20c405da93688948499bdad979fc4c6267ecf8d6	A term male was born to a mother with confirmed @DISEASE$; he had a prenatal diagnosis of microcephaly and multiple @PHENOTYPICFEATURE$, among other anomalies, and a normal male karyotype (determined by amniocentesis).	false
+219386eb1bb4039376c09a43136ecbe564231011	We report on a 7-year-old girl with unequivocal features of @DISEASE$ (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and @PHENOTYPICFEATURE$.	false
+bf96ca976fa72159970c3a3ed26b5abefb3dcc5a	Our results suggest that these patients represent an Arab variant of @DISEASE$ with characteristic @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+7d39ccad95c228afbe43c747d2cda6232ccb9e5a	The girls had some unusual features--@PHENOTYPICFEATURE$ and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical @DISEASE$ phenotype characterized by macrocephaly and normal intelligence.	false
+8a19e18bdadcc5e7a844a3c1095b047e6fd858ba	The girls had some unusual features--@PHENOTYPICFEATURE$ and psychomotor retardation--that distinguish the @DISEASE$ profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence.	false
+3829a9cffb273a1df2e937bfba5a3f65486a3d3d	These mice have elevated serum phenylalanine levels, @PHENOTYPICFEATURE$, and behavior and movement abnormalities, and female mice exhibit a @DISEASE$ syndrome.	false
+dd7aa8a35edc07fba05cf52fbafb67c3e8e8ba95	These latter strains have levels of HPH very similar to human PKU patients, exhibit a phenylalanine-dependent @PHENOTYPICFEATURE$, and have reproductive difficulties that resemble human @DISEASE$.	false
+cacaf2c7deba5357646c98208198af2e3ceb26dd	Burden of @DISEASE$ abnormalities in patients hospitalized for @PHENOTYPICFEATURE$.	false
+711dead8e06061342834184f52667197b9a0136d	Liddle's syndrome, a rare cause of @PHENOTYPICFEATURE$ hypertension, is characterized by a renal tubular @DISEASE$ channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+94e42def5df46f5ffe94391d7a525f9ab43fe1d7	Furthermore, curcumin pre-treatment apparently reduced the frequency of sperm @PHENOTYPICFEATURE$ and TBARS induced by MTZ alone or in combination with X-ray and increased the levels of hepatic GSH and @DISEASE$.	false
+ccd8939cb355ccfc8dbb6e4229d4bc90318cf490	We present one patient with a Dandy-Walker malformation and another with @DISEASE$ who presented with @PHENOTYPICFEATURE$.	false
+ba149b932bdf0710458109e6f00ed09556cc45be	The reduction of @DISEASE$ in the choroid plexus, hippocampus and ependymal cells of ventricles or aqueduct may promote the development of @PHENOTYPICFEATURE$ in the congenitally hydrocephalic rat.	false
+e006cf9acdf9630d80a4950003b699ac7d9add58	Some of these include congenital cataracts, @PHENOTYPICFEATURE$, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and @DISEASE$.	false
+ad2657c00cf057fea2f1c8adc504888ab1ba9832	Si-Miao-Yong-An decoction ameliorates cardiac function through restoring the equilibrium of @DISEASE$ and NOX2 in @PHENOTYPICFEATURE$ mice.	false
+ddaa977104c3e3f49262d6d955a39fe051ce9326	Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, @DISEASE$, @PHENOTYPICFEATURE$, and corpus callosum abnormalities.	false
+b60b331de3955dbbdd96a678b01766bd4b792c7c	Three children with malignant solid tumors developed hyponatremia with renal @DISEASE$ wasting associated with other signs of tubular dysfunction, such as hypokalemia or @PHENOTYPICFEATURE$, a few days after cis-diammine dichloroplatinum (CDDP) administration.	false
+d62b618f9cd03b9123b5186c0789697a2e550da9	Three children with malignant solid tumors developed hyponatremia with renal @DISEASE$ wasting associated with other signs of tubular dysfunction, such as @PHENOTYPICFEATURE$ or hypomagnesemia, a few days after cis-diammine dichloroplatinum (CDDP) administration.	false
+d2a9dcf1842dfdf131668b8a905d4d220b079b41	To explore the effect of treatment on sudden @PHENOTYPICFEATURE$ at ultra-early stage and the influence on Malonyldialdehyde (MDA) and superoxide dismutase(@DISEASE$) of serum.	false
+0836d946def64f4ab4c173ae38f6ab24b437d645	This report presents the case of a 13-year-old female with Angelman syndrome caused by 15q11-13 microdeletion demonstrating unusual marked limb deformities with generalized osteoporosis, @PHENOTYPICFEATURE$, and @DISEASE$. The radiographs of her femur, tibia, fibula, ulna, and radius revealed curved deformities in the distal diaphysis-metaphysis areas and generalized osteoporosis.	false
+3d3d2ee2001329f06c46388755f4a8e06cf12875	This study reports the effect of concomitant exposure of rats to MET and IDPN on @PHENOTYPICFEATURE$ in rats namely excitation, circling and chorea (@DISEASE$) syndrome.	false
+35038a8887db611476f6cb051b1a8126474f5ce2	The differential diagnosis can be summarised as pneumonia, pneumothorax, @PHENOTYPICFEATURE$/cor pulmonale, bronchiectasis, asthma, tuberculosis, sinusitis and other forms of upper respiratory tract sepsis, @DISEASE$, lung cancer, gastro-oesophageal reflux, the presence of a foreign body in the airway, melioidosis, and lung abscess.	false
+544ada6d8260a30555a4e1947b4a3913531dcbb2	Here, we report a 6-year-old girl with @DISEASE$ who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, @PHENOTYPICFEATURE$, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis.	false
+1a84679d49fff0ba0d285639f265bcbf968247ff	Here, we report a 6-year-old girl with @DISEASE$ who discontinued NTBC treatment six months prior to admission, presenting with complaints of @PHENOTYPICFEATURE$, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis.	false
+118eb8b5c472cc7f9d3933aee1258522a8a80e19	"Neurologic crisis" of @DISEASE$ is a rare complication seen after discontinuation of treatment characterized with anorexia, @PHENOTYPICFEATURE$, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm.	false
+0d49de08b61a784a1c46dd5230ee1afdb9d35316	Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with @DISEASE$, @PHENOTYPICFEATURE$ and atopic manifestations.	false
+77ebc5c0ae26c3d359d75bca6f1931c62975d261	We describe a 2-month-old female with @DISEASE$ and prolonged collodion membrane with two constrictive bands of the fingers causing significant erythema, @PHENOTYPICFEATURE$, and pain.	false
+f7358bfce5e402b547e42c64052b2e68c6409abf	In this review, we summarize recent advances in understanding the etiology, risk factors and pathophysiology of focal task specific dystonia (@DISEASE$), @PHENOTYPICFEATURE$ characterized by abnormal motor activation during the performance of specific, repetitive actions.	false
+fa2f41510f77b6c23d81557d3b80e21c361a78f9	Severe generalized muscular atrophia, nerve @PHENOTYPICFEATURE$, ear problem and disability with @DISEASE$.	false
+2a1732319d117c30899d2a2a9eff40e83542202b	Short stature with @PHENOTYPICFEATURE$ and @DISEASE$ (SOPH; MIM 614800) syndrome is a genetic disease caused by mutation in the neuroblastoma amplified sequence (NBAS) gene.	false
+ff6d586b494212472983cfbe3dd68bc8ef2ea041	@PHENOTYPICFEATURE$ with optic atrophy and @DISEASE$ (SOPH; MIM 614800) syndrome is a genetic disease caused by mutation in the neuroblastoma amplified sequence (NBAS) gene.	false
+87772de2dd74c3a0e2b039ebfab3bc2b59bed4ad	A 23-year-old male who was known to suffer from neutropenia and pancreatic dysfunction from early childhood, presented with @PHENOTYPICFEATURE$, acquired @DISEASE$ (of the polymorphonuclear granulocytes) and sideroblastic anaemia, a combination of symptoms suggestive of preleukaemia.	false
+39c36fa736836e37c7d93df2b03f0e966117779c	Homozygous missense NBAS variants cause SOPH syndrome (short stature; @PHENOTYPICFEATURE$; @DISEASE$), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+72a1aeae0890e617bf625a270b4154dfee3c52a7	Homozygous missense NBAS variants cause SOPH syndrome (@PHENOTYPICFEATURE$; optic atrophy; @DISEASE$), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele.	false
+40998e59d56c5bd90be4fd5ad7a0d499776c2d48	@DISEASE$ is characterized by severe @PHENOTYPICFEATURE$, distinctive facial features and multiple congenital malformations.	false
+7b32da988069a802830b0ee5ace0c0c311a49cf7	The probands were @PHENOTYPICFEATURE$ and had nonspecific dysmorphic features except for one patient with the @DISEASE$.	false
+f0a80a3698722ca527ac2e4ced887a7b24d93e8a	Therefore we emphasize that BRPS syndrome, caused by ASXL3 loss-of-function variants, is a clinically distinct @PHENOTYPICFEATURE$ syndrome with a recognizable phenotype distinguishable from that of @DISEASE$.	false
+e3c1bc28c6fc2cfd521b81c0b65b0bd570f668e0	@DISEASE$ is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe @PHENOTYPICFEATURE$, and feeding issues.	false
+dbd4d1c02976450aa20af4827fbc4dd876c5a60b	To assess the correlation between lumbar disc degeneration (@DISEASE$), multifidus @PHENOTYPICFEATURE$ (LMA), and facet joints degeneration in patients with L4-L5 lumbar disc herniation (LDH).	false
+9817fab636a8f7b9f618f93bbe20d2216d88f89b	Maple syrup urine disease (@DISEASE$) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal @PHENOTYPICFEATURE$, episodic metabolic decompensation, and chronic amino acid imbalances.	false
+e89036f212cd9f628b2a6a952195bf040580c286	In humans, mutation of the DBT gene causes maple syrup urine disease (@DISEASE$), a disorder of branched-chain amino acid metabolism that can result in @PHENOTYPICFEATURE$ dystonia, profound neurological damage and death.	false
+5e7767bd3e11a1dd95960f4200ce4e0d16c8be81	A 33-year-old man, presented to the emergency room with severe @DISEASE$ abdominal pain, @PHENOTYPICFEATURE$, without fever.	false
+1a08d65a1cb5b3c83b273530166c810401c36eea	A 33-year-old man, presented to the emergency room with severe @DISEASE$ @PHENOTYPICFEATURE$, nausea and vomiting, without fever.	false
+d75a598e8ec3883189544a044460946425c91bea	@PHENOTYPICFEATURE$ and @DISEASE$ respiratory infection.	false
+7ebc5741a817803c84c2a236b4129150e173401b	The final 20-item PAGI-SYM has six subscales: heartburn/regurgitation, fullness/early satiety, nausea/@PHENOTYPICFEATURE$, bloating, @DISEASE$ abdominal pain, and lower abdominal pain.	false
+7016114e1efb927cfcefed344c5e9b645daf3ec7	The final 20-item PAGI-SYM has six subscales: heartburn/regurgitation, fullness/early satiety, nausea/vomiting, bloating, @DISEASE$ @PHENOTYPICFEATURE$, and lower abdominal pain.	false
+60b1f572120cfc5d5a748e90709d6d92741d3744	The final 20-item PAGI-SYM has six subscales: heartburn/regurgitation, fullness/early satiety, nausea/vomiting, bloating, @DISEASE$ abdominal pain, and lower @PHENOTYPICFEATURE$.	false
+b3fbc41a0a7206cc2b54af93c6ec28b6acfbac23	The child who had a cough and @PHENOTYPICFEATURE$ during sleep was diagnosed as suffering from @DISEASE$ respiratory infection and was treated with antibiotics.	false
+ff1564069acb87003cd37484e046912980cb0f6b	Jaundice with tender hepatomegaly, usually preceded by symptoms of malaise, anorexia, @PHENOTYPICFEATURE$, and associated with @DISEASE$ abdominal pain, was an invariable finding in all patients.	false
+713451d3da13534a41b3e2a2308d5dbddbf0b3e4	Jaundice with tender hepatomegaly, usually preceded by symptoms of malaise, anorexia, nausea and vomiting, and associated with @DISEASE$ @PHENOTYPICFEATURE$, was an invariable finding in all patients.	false
+4c3a4b34bdaa1b586f67d7187b45a3eec6346e1a	In addition to nausea and vomiting, symptoms of postprandial fullness, loss of appetite, @DISEASE$ @PHENOTYPICFEATURE$, and early satiety also improved.	false
+ea0d11e141211f106580c44839d49cc8d09a18ee	In addition to @PHENOTYPICFEATURE$, symptoms of postprandial fullness, loss of appetite, @DISEASE$ abdominal pain, and early satiety also improved.	false
+9e320b86e6faeef491d599c2288e286fb69a9466	The PAGI-SYM includes 6 subscales: heartburn/regurgitation, fullness/early satiety, nausea/vomiting, bloating, @DISEASE$ abdominal pain, and lower @PHENOTYPICFEATURE$.	false
+d482524690fc8175f2d1f02e38097c1fa04eaffd	The PAGI-SYM includes 6 subscales: heartburn/regurgitation, fullness/early satiety, nausea/vomiting, bloating, @DISEASE$ @PHENOTYPICFEATURE$, and lower abdominal pain.	false
+fb2349d18ecc53ccdb9b65af62f3037b0087d3f0	The PAGI-SYM includes 6 subscales: heartburn/regurgitation, fullness/early satiety, nausea/@PHENOTYPICFEATURE$, bloating, @DISEASE$ abdominal pain, and lower abdominal pain.	false
+43c68a7eec1b5119e76e7b10c090599a1c25ca1b	The most common AEs reported were decreased appetite, upper @PHENOTYPICFEATURE$, headache, insomnia, @DISEASE$ respiratory tract infection, affect lability, irritability, cough, and vomiting.	false
+03deff61c8a8a540afe5bcaa5c51bd92575a7fee	The most common AEs reported were decreased appetite, upper abdominal pain, headache, insomnia, @DISEASE$ respiratory tract infection, affect lability, irritability, cough, and @PHENOTYPICFEATURE$.	false
+d8d366a7d42e890c51f83b69020e42f36d2da3a4	The patients presented with short @DISEASE$ @PHENOTYPICFEATURE$ lip seal, and maxillary retrusion.	false
+1dfa86b23386a9ef678aba89f1658a6002f1fb52	The incidence of nonspecific @DISEASE$ GI tract conditions, such as abdominal pain, dyspepsia, @PHENOTYPICFEATURE$, was also similar in the 2 groups.	false
+0de94a9e21502a250761ff608b924d9f1060f383	The incidence of nonspecific @DISEASE$ GI tract conditions, such as @PHENOTYPICFEATURE$, dyspepsia, nausea, and vomiting, was also similar in the 2 groups.	false
+94f887bfadfce9095264e1eb8c3742b14b5863d4	The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, @PHENOTYPICFEATURE$, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and @DISEASE$.	false
+e7a6b7c13fe64c2eedd5d4f42bbf1536175d8a32	It has a variable clinical presentation: growth restriction, dysmorphic features, @PHENOTYPICFEATURE$, hemihyperplasia, @DISEASE$ and ID.	false
+7f0be63b0e96d96d407ec31a235e8cd55720f51a	To describe presenting symptoms, evaluation findings, and surgical management of cranial base @PHENOTYPICFEATURE$ in patients with Camurati-Engelmann disease (@DISEASE$).	false
+896d5d2b5fc71abf7b207e79f199daf6e3e1bd60	Camurati-Engelmann disease (@DISEASE$) or progressive diaphyseal dysplasia is a rare autosomal dominant inherited condition which belongs to the group of craniotubular @PHENOTYPICFEATURE$.	false
+28d00ddb19f946701c78c1b7638206533b84990b	@DISEASE$ (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and @PHENOTYPICFEATURE$, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure.	false
+c412a7354200d78848b1a8c782f7d98977fb07ba	Cranioectodermal dysplasia (CED, @DISEASE$; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and @PHENOTYPICFEATURE$, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure.	false
+1de80236ad457a57784b16f4d0619e7370d58160	Cranioectodermal dysplasia (@DISEASE$, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and @PHENOTYPICFEATURE$, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure.	false
+4ceab545531805273e185f5cefc53c4ce4a916c5	Encephalopathy, @PHENOTYPICFEATURE$, dysautonomia, myasthenia gravis, @DISEASE$, and antiacetylcholine receptor antibodies in the CSF.	false
+4e9152047cbb6641337916df6645418944d28890	@DISEASE$ (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity, epilepsy, and amelogenesis imperfecta.	false
+5b01136152aae2b24f24a7ec74968e16d826568b	However, information regarding the temporal and spatial expression patterns of the RNF213 gene under the condition of @PHENOTYPICFEATURE$, which is one of characteristic pathologies associated with @DISEASE$, is currently limited.	false
+e56999c923c13b78069a1722ccd162d1f05d8136	The clinical presentation of moyamoya disease (@DISEASE$) typically includes @PHENOTYPICFEATURE$ in children and intracranial hemorrhage in adults.	false
+31f647c571e07afe188a11bc2e8d31ec46f6fd17	Thus, we recommend routine CBF measurement in the acute stage after revascularization surgery for adult @DISEASE$ to avoid surgical complications, such as local CHP and @PHENOTYPICFEATURE$, caused by the WS phenomenon.	false
+5f34e7a60e5abee86ea338936b03c2d7f049dcbb	The significant inverse relationship between MMD and patient survival suggests that for tumours with a poor prognosis, decreased @DISEASE$ is associated with @PHENOTYPICFEATURE$ fibrosis and the development of large diameter vascular channels.	false
+e0171cbfbfa1775d0f676ae1412eeb3916138c9d	The significant inverse relationship between @DISEASE$ and patient survival suggests that for tumours with a poor prognosis, decreased MMD is associated with @PHENOTYPICFEATURE$ fibrosis and the development of large diameter vascular channels.	false
+5756c3223100d1676b5699e83402f1542ef87907	The significant inverse relationship between @DISEASE$ and patient survival suggests that for @PHENOTYPICFEATURE$ with a poor prognosis, decreased MMD is associated with tumour fibrosis and the development of large diameter vascular channels.	false
+289f0b8eb970d3e00c7ff6044bba9799f47d28b9	The significant inverse relationship between MMD and patient survival suggests that for @PHENOTYPICFEATURE$ with a poor prognosis, decreased @DISEASE$ is associated with tumour fibrosis and the development of large diameter vascular channels.	false
+2102161b517e90508643daeb0e07a52b8224dd26	Pediatric MMD (PMMD) usually presents with @PHENOTYPICFEATURE$, while intracranial hemorrhage is more common in adult @DISEASE$ (AMMD), suggesting differences in cerebral hemodynamics.	false
+20fdeed40e51bdb8e001be60d621145e6fa21588	Pediatric @DISEASE$ (PMMD) usually presents with @PHENOTYPICFEATURE$, while intracranial hemorrhage is more common in adult MMD (AMMD), suggesting differences in cerebral hemodynamics.	false
+5c5b1766d2e21bee10ea683f723fdbc0e131faaa	@DISEASE$ in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and @PHENOTYPICFEATURE$.	false
+9511bd56688fcd1afd74bcd5fee1b413d961eb7c	There was a weak but significant difference for @DISEASE$ between @PHENOTYPICFEATURE$ grades (P < 0.01) and stages (P < 0.05).	false
+34e3cf16be4e72cd4999656bcfe22c4eeab1c257	STA-MCA anastomosis can reduce the number of EPCs in @DISEASE$ patients, lower the risk of rebreeding, and improve @PHENOTYPICFEATURE$ attacks.	false
+c6fc1e83253196f73c9566b54321c29e50ece24e	Moyamoya disease (@DISEASE$) is a rare arteriopathy associated with @PHENOTYPICFEATURE$, due to stenosis or occlusion of the internal carotid artery and its branches and primarily presenting with stroke.	false
+29c7bb899cf356171570b0a2f5a4f937738f259f	The aim of this study was to determine how hemodynamics of the posterior cerebral artery (PCA) are associated with @PHENOTYPICFEATURE$ lesions in moyamoya disease (@DISEASE$).	false
+15dcbb532c86e152d367c5e64d142b02668d5203	@DISEASE$ was estimated by the thresholds for @PHENOTYPICFEATURE$: paroxysmal ventricular tachycardia, repeated ventricular extrasystoles and ventricular fibrillation (VF).	false
+b0bbbecf704fdce45da32ba34c5d47a017fe77e1	A 57-year-old male, diagnosed with @DISEASE$, due to a L3 burst fracture 3 months earlier, was presented with @PHENOTYPICFEATURE$ and chills.	false
+a842c1ef546f6bd3597e8056eba3d8aa23c1e220	The subject was an infant with severe @DISEASE$ followed by recurrent respiratory failure episodes, @PHENOTYPICFEATURE$ and neurological abnormalities.	false
+ce111b78dff655d4d39faa229aa661dcc5bd9442	The subject was an infant with severe @DISEASE$ followed by recurrent respiratory failure episodes, hypopituitarism and @PHENOTYPICFEATURE$.	false
+e9f28dbf029088d9c4c7a5d5c3bdb189281e1d09	Mutations in the gene encoding thyroid transcription factor, NKX2-1, result in @PHENOTYPICFEATURE$, hypothyroidism, and @DISEASE$ (RDS) that together are known as the brain-thyroid-lung syndrome.	false
+91637cf1ef7847ac09ca27698a7b1488202df078	@DISEASE$ in a 3-month-old infant with isolated @PHENOTYPICFEATURE$.	false
+a748204d2c1890dc3004061c90829c803f4d880d	HPV was detected in 29% of @DISEASE$ @PHENOTYPICFEATURE$.	false
+e4ab49eae3f3d48a51a582ed57008e43038d46fc	Achieving complete @PHENOTYPICFEATURE$ resection is one of the main goals of surgery for @DISEASE$ (HNSCC) tumours.	false
+42079995917c2d66fcd9e4b216f738139b7d1e76	Achieving complete @PHENOTYPICFEATURE$ resection is one of the main goals of surgery for head and neck squamous cell carcinoma (@DISEASE$) tumours.	false
+93aad3f2b490a6175a2943e633516f72c49a7f0e	Achieving complete tumour resection is one of the main goals of surgery for @DISEASE$ (HNSCC) @PHENOTYPICFEATURE$.	false
+6c08f65ce2421125a55f31378badf033aecdf758	Achieving complete tumour resection is one of the main goals of surgery for head and neck squamous cell carcinoma (@DISEASE$) @PHENOTYPICFEATURE$.	false
+1d8da156e5371940a819e2d9ab11b8e5fcccb552	To investigate possible bias, we analyzed integrated data obtained from 19 head and neck squamous cell carcinoma (@DISEASE$) tumors and 23 mesothelioma @PHENOTYPICFEATURE$.	false
+d52357e58ff23f705a36bf4f2bbbf39a9d72594f	To investigate possible bias, we analyzed integrated data obtained from 19 @DISEASE$ (HNSCC) @PHENOTYPICFEATURE$ and 23 mesothelioma tumors.	false
+064e3c378f200f4780335d3ae129d0c647283882	To investigate possible bias, we analyzed integrated data obtained from 19 @DISEASE$ (HNSCC) tumors and 23 mesothelioma @PHENOTYPICFEATURE$.	false
+967f83956ce693b0fa6332e71f8d9330bab23f8f	To investigate possible bias, we analyzed integrated data obtained from 19 head and neck squamous cell carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ and 23 mesothelioma tumors.	false
+0c8a2f4e7bb1921cd252295ee31d32ae648e1e88	=0.034) of @DISEASE$ @PHENOTYPICFEATURE$.	false
+76c271ad01d961963eda4a2a22b9331a3fe7481c	@DISEASE$ @PHENOTYPICFEATURE$ were established in murine models.	false
+82fe5e0ca072b9387801a03901c3e288ef62b0d5	, @DISEASE$-Derived @PHENOTYPICFEATURE$.	false
+afddd0d2947b7c7534e6728e31fe0d0e3e917977	Current management of @DISEASE$ (HNSCC) depends on @PHENOTYPICFEATURE$ staging.	false
+ef77683a35ce4cce315b94e7e233a40739fc12cc	Current management of head and neck squamous cell carcinoma (@DISEASE$) depends on @PHENOTYPICFEATURE$ staging.	false
+e3428553b7ea86f5e9f8162f6d61e56df7049b30	@DISEASE$ (HNSCC) is a @PHENOTYPICFEATURE$ type that generally carries very complex chromosomal aberrations.	false
+dde1161c76c485042a377081c6ea63c0c06d61a5	Head and neck squamous cell carcinoma (@DISEASE$) is a @PHENOTYPICFEATURE$ type that generally carries very complex chromosomal aberrations.	false
+d5cef4e1531c857f437b08af16e024cf3ef28673	@DISEASE$ (HNSCC) @PHENOTYPICFEATURE$ are often resistant to therapies.	false
+5ad89514c0be18f08e8084a3d9a27aaabcec72b7	Head and Neck Squamous Cell Carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ are often resistant to therapies.	false
+c041f8650e090db7441f62b19bafb91ba6d1635f	Although @DISEASE$ @PHENOTYPICFEATURE$ cells do not express FR, HNSCC tumors contain a significant population of FR-?-expressing macrophages.	false
+f64dfdf4655c866b4be1121d8c821f7ff347ac50	Although @DISEASE$ tumor cells do not express FR, HNSCC @PHENOTYPICFEATURE$ contain a significant population of FR-?-expressing macrophages.	false
+aa3c6c5510472cf4af5071f1495ed8ab4bd047c0	Although HNSCC @PHENOTYPICFEATURE$ cells do not express FR, @DISEASE$ tumors contain a significant population of FR-?-expressing macrophages.	false
+c8fc5db2577d830a7ee0d5c5d3dd4f0edcac145a	Although HNSCC tumor cells do not express FR, @DISEASE$ @PHENOTYPICFEATURE$ contain a significant population of FR-?-expressing macrophages.	false
+665522253ec96df63693c22a121a5e1ce05c2d49	Liquid stool, diabetes, age, smoking, non-use of diapers, @PHENOTYPICFEATURE$, and low oxygen saturation were independently associated with @DISEASE$ category 2 in critically ill patients with fecal incontinence.	false
+cff9d20341fc24b84860e871bc97aa4dd81a9292	Isolated ACTH deficiency (@DISEASE$) is a rare cause of neonatal cholestasis and @PHENOTYPICFEATURE$.	false
+727ddb5ff248b843d84604367b01f3e214e5bef8	There is a logical basis for the prescription of antiarrhythmic therapy (AAT) in patients with an implanted automatic defibrillator (@DISEASE$): the prevention of supraventricular and @PHENOTYPICFEATURE$, slowing the rate of a ventricular arrhythmia to improve the haemodynamic tolerance and better efficacy of anti-tachycardia stimulation.	false
+d738ed3e213a7295ff0a1e9af332d308147a65dc	This patient presents the clinical features of @DISEASE$ (LAD II) including mental retardation, @PHENOTYPICFEATURE$, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+bf8feed36a20c934e8412071c5b49ea7e7f4799c	This patient presents the clinical features of leukocyte adhesion deficiency type II (@DISEASE$) including mental retardation, @PHENOTYPICFEATURE$, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+1965898dc13bcd3fe6a7912cf82c06af8ac343c7	These disorders are seen primarily in males, who manifest the phenotypic effects of the deletion of the loci of various combinations of adjacent genes: Duchenne muscular dystrophy, @DISEASE$, adrenal hypoplasia, optic @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism and anosmia (Kallman syndrome), chondrodysplasia punctata and ichthyosis.	false
+3cc48cdf3c12f4ea2e8caf52f88ad6d491d1e411	Long-term complications and associated conditions of type 1 @DISEASE$ (GD) can include splenectomy, bone complications, pulmonary @PHENOTYPICFEATURE$, Parkinson disease and malignancies.	false
+7248bbe7c0ce3e132faf449a3ca4cee1731254a2	We report a patient with @DISEASE$ (GD) developing prominent @PHENOTYPICFEATURE$ in adult life confirming the existence of an adult neuronopathic form of GD.	false
+c6e231e00e124ab89b2511da7b95847bbf951a48	When patients present with deafness and absent later wave components on auditory brainstem response, type 2 @DISEASE$ should be included in the differential diagnosis even in the absence of other @PHENOTYPICFEATURE$.	false
+f38a7e89e642cfc22c8687fc8dfced8f6a31eb17	Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the @PHENOTYPICFEATURE$ in type 2 @DISEASE$.	false
+8898b87aebce0380240aedfa96e15da1af0c8dab	Although other auto-inflammatory disorders such as, Blau syndrome, @DISEASE$, and Behcets disease have been associated with various forms of uveitis, Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis has never been reported to be associated with any type of @PHENOTYPICFEATURE$.	false
+1f518a9f7d66c5cd46d8930344a5473c8a45a049	It begins with @PHENOTYPICFEATURE$ due to hypoproteinemia and hypoalbuminemia, and in some cases with ascites, immunodeficience and hypocalcemic @DISEASE$.	false
+6f8bc723e48e3713912a1f2921aa29ce37e5dd1a	Based @DISEASE$ features, metastasis, location and number of @PHENOTYPICFEATURE$, around 96% mutations in our cohort could be detected by appropriately selected single gene testing.	false
+bf822821091cc988a52f063ce214ea8172cf3823	The neurons of @PHENOTYPICFEATURE$ showed neurosecretory activity which might have induced the development of pituitary @DISEASE$.	false
+d76d8a77c610d0d53b9381b2263e614d49a9efd4	The severe @DISEASE$ manifested from the first day of life and was associated with @PHENOTYPICFEATURE$, mild peripheral polyneuropathy and dysmorphic features.	false
+4e1d6465c89e71e03a6455d5f0d5060a9c2f71c6	Here we report a sporadic case of @DISEASE$ showing signs of @PHENOTYPICFEATURE$ during the perinatal period.	false
+ac2fe775c3f1d44c2439796225307737562e1dca	Radiographs of the long bones of a 9-year-old boy presenting with waddling gait, @PHENOTYPICFEATURE$, underweight, and severe skeletal pain showed symmetric diaphyseal cortical thickening pathognomonic for @DISEASE$.	false
+11c90330a8953b5fb19549d61e32811efe46bfe5	Camurati-Engelmann disease (@DISEASE$, OMIM 131300), or progressive diaphyseal dysplasia, is a rare autosomal dominant @PHENOTYPICFEATURE$, caused by mutations in the transforming growth factor-?1 (TGF?1) gene.	false
+129797bddd0aab0dc3dfcb0a44e275867a7dcc60	@DISEASE$ and SI resulted in equal uptake of radioactivity in the @PHENOTYPICFEATURE$.	false
+3e9eb10b996cf984e3df2289e21b08722f5f13a9	@DISEASE$ should be considered in the differential diagnosis of patients presenting with nonspecific limb pains and radiological features of @PHENOTYPICFEATURE$.	false
+4a62397277304cf4fbf14fc01485f13b44b9e6b6	Our patient, a 49-year-old male resident of a nursing home, presented with @PHENOTYPICFEATURE$, waddling gait, bone pain, and increased fatigability, usual features of @DISEASE$ (which had been formally diagnosed when he was 8 years old).	false
+1155634e5298add8faa3ebeaf01af349c63f724b	VCR administered by @DISEASE$ was effective in reducing @PHENOTYPICFEATURE$ and prolonging survival time.	false
+1faecf70f7b3c62be3c3b416343775206e27ec2d	Moreover, following a single @DISEASE$ infusion, labeled PBAE nanoparticles spread completely throughout the @PHENOTYPICFEATURE$.	false
+2525c8c2cfc50ed903db46e093915dbae5adad72	Therefore, @DISEASE$ represents a promising technique for treating midline @PHENOTYPICFEATURE$ with the H3K27M mutation.	false
+734ea269a97fc1bf7d5923606a41154771126d73	Most patients of @DISEASE$ (also known as progressive diaphyseal dysplasia and oeteopathica hyperostotica multiplex infantalis) present with extremity pain, @PHENOTYPICFEATURE$, and waddling gait.	false
+c92662f0b2434ff0c8a79dd5c62b510a2c444d6b	A mutation in the FOXP2 forkhead domain cosegregates with a severe @PHENOTYPICFEATURE$, whereas several mutations in the FOXP3 forkhead domain are linked to the @DISEASE$ syndrome in human and a similar autoimmune phenotype in mice.	false
+459e8bd9500bca4fedec67d9e7ac642f8ab3fa7c	Emery-Dreifuss muscular dystrophy (@DISEASE$) is an inherited disorder affecting skeletal and cardiac muscles and characterized by @PHENOTYPICFEATURE$, contractures, and cardiomyopathy with conduction defects.	false
+5d0ce1b68eba0999e48bab05ad9a7196516ed0dc	@DISEASE$ (EDMD) is an inherited disorder affecting skeletal and cardiac muscles and characterized by @PHENOTYPICFEATURE$, contractures, and cardiomyopathy with conduction defects.	false
+20504aa442104a034af2a36d97f64efa55d16810	@DISEASE$ is a rare disorder characterized by childhood onset of contractures, humeroperoneal @PHENOTYPICFEATURE$, and cardiac conduction abnormalities.	false
+e3f8fe1cda39fc1405542378393a8de1f6bcf701	[A case of @DISEASE$--scapuloperoneal @PHENOTYPICFEATURE$ with disturbance of heart conduction].	false
+b5f829374e44524b2ac41d27bf7d398dd86bbe5f	@DISEASE$ (EMD) is an X-linked recessive disorder associated with @PHENOTYPICFEATURE$, contractures, and cardiomyopathy.	false
+926f413a215a37fd1d92e2c692b6f70b60cf51ba	Autosomal dominant Emery-Dreifuss muscular dystrophy (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ and is caused by mutations in the LMNA gene encoding A-type lamins.	false
+7c0a6a09b4548514d2fdbcd26bad1e57fff6783a	Since the initial report outlining the first fhl1 mutation in 2008, over 25 different mutations have been identified in patients with reducing body myopathy, X-linked myopathy characterized by postural @PHENOTYPICFEATURE$, scapuloperoneal myopathy and @DISEASE$.	false
+9fc9d08bc5d1f47fbf235b82dc092622861c7baa	In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with @DISEASE$-like, which clinically manifests as muscle weakness, @PHENOTYPICFEATURE$, joint contracture, and without significant cardiac abnormalities.	false
+97bfa25932b06076717705b2a11dd6186280a4c7	@DISEASE$ (EDMD) is a rare genetic syndrome consisting of tendon retractions, progressive @PHENOTYPICFEATURE$ and cardiac involvement.	false
+d448c540ab5e031059bf62a49e478609f184f1aa	Emery dreifuss muscular dystrophy (@DISEASE$) is a rare genetic syndrome consisting of tendon retractions, progressive @PHENOTYPICFEATURE$ and cardiac involvement.	false
+5cd92bcfc03b711d6fb08e0ee11b72e2179d6e9c	A 32-year-old woman is described as having the following characteristics of @DISEASE$: humeroperoneal @PHENOTYPICFEATURE$ and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomyopathy.	false
+d9466992112959d3ea9fc1f1921e10e0a4bb60b7	A case of @DISEASE$ with various associated @PHENOTYPICFEATURE$ is reported.	false
+138af54cb8491f50d41acec1af299d1b3acb5cfd	@PHENOTYPICFEATURE$ in molecularly proven @DISEASE$ patients.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+bb7f4b1a2b31b3f7c7f257f8ef469a21117e48ac	We analyzed the @PHENOTYPICFEATURE$ and clinical features of @DISEASE$ in a single tertiary center.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+d776109529804e565b2daee1a4d324db082ebd60	@PHENOTYPICFEATURE$ and epilepsy are important for anesthesia management in @DISEASE$.	false
+624e7ff9756f9e2a4d55fabd8ff4e1c3211d4258	In view of these findings, it would be advisable to study each individual with @DISEASE$ and hearing impairment for possible @PHENOTYPICFEATURE$.	false
+49b0a8f269e550f4f3da9c8995c690f4d7e1c0b5	To determine the frequency and types of @PHENOTYPICFEATURE$, and to evaluate renal function in a cohort of patients with @DISEASE$ (KS).	false
+347c9afa12d9aa06a57e89e6ac37ce5595446ba1	In conclusion, @DISEASE$ should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of @PHENOTYPICFEATURE$ occurs in this syndrome.	false
+6974d20d9ab33001ad58b560ba23d8212d68f0e2	Clinical and molecular spectrum of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6d4d93f1e1c4073e3a064da04a02e769ae5c2271	@DISEASE$ is a haploinsufficient congenital multi-organ malformation syndrome, which frequently includes severe @PHENOTYPICFEATURE$.	false
+c0e9a31354653c1dd65451e561a387687a55d8e4	Mutations in EMD, encoding emerin cause skeletal muscle and @PHENOTYPICFEATURE$ in patients with @DISEASE$ (X-EDMD) but the underlying mechanisms leading to cardiac defects are poorly understood.	false
+eca0d70d8a883018ec2e1c52a232998c1bd1dd81	Neuroendocrine @DISEASE$ (NETTs) are rare @PHENOTYPICFEATURE$.	false
+5cf2a8d680a77de7d17cfdd6592fa8c7d2418803	@DISEASE$ are uncommon, and malignant variants of such @PHENOTYPICFEATURE$ are rare.	false
+061661f3b094826e940f8623a149e3202144dd64	Carcinoid @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+82d6382dc32b27cb72bd9d08b469d61de74ed5af	Guidelines for the management of gastroenteropancreatic neuroendocrine @PHENOTYPICFEATURE$ (including bronchopulmonary and @DISEASE$).	false
+e6946f0db7eab782f36189c8c2fa6895285a8fb6	We report a 36-year-old man with proximal dominant @PHENOTYPICFEATURE$, @DISEASE$, diabetes mellitus, hypokalemia, and increased levels of plasma ACTH and cortisol.	false
+7ecaf48b67a6727050696a4e60daef5be991b0ec	Neurogenic @PHENOTYPICFEATURE$ and @DISEASE$ account for one third of all masses.	false
+c57c7d16703008c8f3f0dc3477f148ec863b5c97	@DISEASE$ are the most common @PHENOTYPICFEATURE$ in the anterior mediastinum.	false
+f3172b88846974394a6b682ce6a27ad917fbc16c	Exclusion criteria were: Neuroendocrine @DISEASE$, debulking/palliative resection and @PHENOTYPICFEATURE$ biopsy.	false
+82d6382dc32b27cb72bd9d08b469d61de74ed5af	Guidelines for the management of gastroenteropancreatic neuroendocrine @PHENOTYPICFEATURE$ (including bronchopulmonary and @DISEASE$).	false
+7aeaaa25fd26d7ea2d6e8a29f938dc80e08c4aef	After the @DISEASE$ diagnosis, she underwent thoracoscopic surgery for @PHENOTYPICFEATURE$ resection.	false
+3103b068db4f9061e793f4b91ce7f3a32ed913df	The fact that @PHENOTYPICFEATURE$ profoundly alleviates the D2 disease indicates that therapeutic strategies designed to decrease pigment production may be beneficial in human @DISEASE$.	false
+961dcbbfe6d42903e01fefbeeda74d4cc6cc06db	Next generation sequencing in family with @DISEASE$ syndrome associated to @PHENOTYPICFEATURE$: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.	false
+5813c8d2448ea776fa567288f6601157b24314a9	The present study reports the molecular investigation by next-generation re-sequencing of 281 nuclear genes, encoding mitochondrial proteins, of consanguineous family including two individuals with @DISEASE$ syndrome associated to @PHENOTYPICFEATURE$.	false
+0702418c19097dd7f4a749020bfabc198183d4d0	We report the case of an inaugural episode of @PHENOTYPICFEATURE$ in a 40-year-old male with a history of chronic kidney disease associated with TSC2-@DISEASE$ contiguous gene syndrome.	false
+686ebe30a470ae2a98b1e895e53e25d4df0d79a9	@DISEASE$, facial dysmorphism, optic nerve atrophy, @PHENOTYPICFEATURE$ and developmental delay: a new syndrome.	false
+7e72b8e4085a0f7ea11e37a7c383c3e6d730944e	Adenosine deaminase (ADA) deficiency is a disorder of the purine metabolism leading to @DISEASE$ and systemic alterations, including @PHENOTYPICFEATURE$.	false
+c0d49035640ce62d85dbf6598a15f0628c776648	Deficiency of the purine salvage pathway enzyme purine nucleoside phosphorylase causes a @DISEASE$ and @PHENOTYPICFEATURE$ and is usually fatal in childhood.	false
+edff7914682375190514f4ace7735f3a827ac163	Metastatic @DISEASE$ to the prostate presenting with bilateral @PHENOTYPICFEATURE$.	false
+c262df9f731121632b59db91df3fa72d94b75bd9	We herein present the first ever reported case of retroperitoneal fibrosis related to @DISEASE$ in a 63-year-old patient who developed bilateral @PHENOTYPICFEATURE$ due to extensive retroperitoneal fibrosis 18 mo after having completed neoadjuvant chemoradation followed by surgery for a pT3N0 adenocarcinoma of the distal esophagus.	false
+3e2d368830c08ff643ea6decd1435cf755bb687d	We report a case of an adolescent with thrombocytopenia and Coombs positive @PHENOTYPICFEATURE$, diagnosed with @DISEASE$, but ultimately found to have TTP.	false
+8ca0580fc58619483b1b91c8d9ff2479e569ed2a	Extraluminal soft-tissue occlusion of the EVA appears to be a safe procedure but has not yet been shown to be significantly effective in altering the @PHENOTYPICFEATURE$ accompanying the @DISEASE$.	false
+2c2d06b921d3c40967af5959193b303537c01429	We searched PubMed (January 2007-February 2019) for human studies of OH and RBD evaluating @PHENOTYPICFEATURE$, postural instability, and survival in Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA) and @DISEASE$ (PAF).	false
+820af657dca5cd9254c330ae5838cc8b95913c68	Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: ?-propeller (combined phenotype), Sec39 (@DISEASE$/ILFS2), and C-terminal (@PHENOTYPICFEATURE$, optic atrophy, and Pelger-Hu?t anomaly/SOPH).	false
+c0af6c22ca8cd568bcf1d2a2f0c1d09e3ed42941	Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: ?-propeller (combined phenotype), Sec39 (@DISEASE$/ILFS2), and C-terminal (short stature, @PHENOTYPICFEATURE$, and Pelger-Hu?t anomaly/SOPH).	false
+17a31af27c8bc78dca2c709417003b5992121849	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and @DISEASE$) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+d7abb58dadbdf073cb2fda9ee58bf928456961d1	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, @DISEASE$, Warburg Micro syndrome and Martsolf syndrome).	false
+501a109277f1f0988fe7a9693f7c57149d814ebf	FIG4, @DISEASE$, and @PHENOTYPICFEATURE$: a role for phosphoinositides in melanosome biogenesis?	false
+89115777b6e0683a739ae2ba7183ef41249548a4	Charcot?Marie?Tooth type 2B (CMT2B) disease is a @DISEASE$ subtype characterized by prominent loss of sensation, distal muscle weakness and wasting @PHENOTYPICFEATURE$.	false
+b8fca1ea25acd49324b419edaee93d2aabdb9184	Additionally, the agents exhibit a selectivity toward DT-Diaphorase (NQO1)-containing versus DT-@DISEASE$ (resistant) @PHENOTYPICFEATURE$ cell lines, and they were shown to be effective substrates for reduction by recombinant human DT-Diaphorase.	false
+ceebcd84795e00e289951ad66eda0004883e661c	In addition, infections caused by arthropod vector viruses including @PHENOTYPICFEATURE$ C, West Nile, @DISEASE$, Yellow fever and Japanese encephalitis are emerging throughout the world.	false
+b0c630b0256aeeb4926e186cf831481e67adab21	Using expression of optimal surrogate markers of co-stimulation/exhaustion signatures in independent data sets, we confirm an association with good clinical outcome or response to therapy in infection (hepatitis C virus) and vaccination (yellow fever, malaria, influenza), but poor outcome in autoimmune and inflammatory disease (type 1 diabetes, anti-neutrophil cytoplasmic antibody-associated vasculitis, @PHENOTYPICFEATURE$, idiopathic pulmonary fibrosis and @DISEASE$ haemorrhagic fever).	false
+f26f7fa3507d65c0e7d3f61cba68bc0bd191b234	We performed genetic analysis of the NKX2.1 gene in an infant with no neonatal respiratory distress and near-normal results at neonatal screening test for @DISEASE$, choreoathetosis, @PHENOTYPICFEATURE$ and delayed independent walking.	false
+cd0f687d68d9b61a8587f0aaa43c3fc17150ab78	Screening includes programs for the detection of PKU and @DISEASE$ in newborn infants, for @PHENOTYPICFEATURE$ in the unborn fetus, and hypertension.	false
+3512271aa6c7012cfd83dded37d6b4c4f84d5452	On the other hand, @PHENOTYPICFEATURE$ resulting from @DISEASE$ has typical histological cerebellar changes and prognosis is very poor unless thyroid treatment is started soon after birth.	false
+0e83ae8efadee8281d0b05c7a3a949d149808ca7	Specific conditions included congenital syphilis, Rh hemolytic disease of the newborn, measles, Haemophilus influenzae type B @PHENOTYPICFEATURE$, @DISEASE$, phenylketonuria, and congenital rubella syndrome.	false
+51739891afa0f53d119b706092d24aa1ee804a79	The literature was reviewed regarding screening effects on congenital hip pathology, congenital heart disease, retained testis, hydrocephalus, hearing loss, psychomotor retardation, visual @PHENOTYPICFEATURE$, and phenylketonuria (PKU) and @DISEASE$ (CHT).	false
+d6059a60c15a3cb69724330a57692c03d70c5c19	Myxoedema @PHENOTYPICFEATURE$ in a 2-year-old girl with untreated @DISEASE$: Case report and literature review.	false
+dedf18a6a47167f55eb3a1e0a55d4bafeaf65f6c	Autosomal dominant transmission of @DISEASE$, neonatal respiratory distress, and @PHENOTYPICFEATURE$ caused by a mutation of NKX2-1.	false
+b616d56d7ba68ffba751847e445a9fa8004d2e42	Autosomal dominant transmission of mutations of NKX2-1 may cause @DISEASE$, neonatal respiratory distress at term, and persistent neurologic findings such as @PHENOTYPICFEATURE$, choreoathetosis, and dysarthria in families with affected subjects in multiple generations.	false
+c7ad2e0f84f22a1cc176800abe63ca8d4d5125de	A 7-year-old female presented with blepharophimosis ptosis epicanthus inversus syndrome with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+47bbf780e23c0be8255e8e4cb719794a8d5cf9e4	To the best of our knowledge, this is the first reported case of blepharophimosis ptosis epicanthus inversus syndrome with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ae07b811f2d290bff0bf3ecae85cb2bbd32be649	A 17 year old male developed @DISEASE$ (ARDS), seizures, intravascular hemolysis and @PHENOTYPICFEATURE$ following self-poisoning with a pesticide containing 14.5% indoxacarb.	false
+799bb4a50a28450e667d42692d9844bb8e9c5e3d	Accompanying diseases that increase the risk include diabetes mellitus, @PHENOTYPICFEATURE$, chronic pancreatitis, @DISEASE$ syndrome and intraductal papillary mucinous neoplasms.	false
+8a2503843602e4c9d6071b616e6656ee945e193a	@DISEASE$ with @PHENOTYPICFEATURE$ extending beyond the extrapyramidal system.	false
+65f252aa1ffbc53574a6e69223b856a708be4639	[Two sisters with pseudoidiopathic @DISEASE$ presenting extensive @PHENOTYPICFEATURE$].	false
+eed43d514aa1f6142952003dfb625d7d4ed0dc84	Idiopathic @DISEASE$ as a cause of extensive @PHENOTYPICFEATURE$.	false
+b0186467b9ce6ef41d830487a54f07a33c5ad98e	Extensive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+eb12e1dd0ed0780231f55c9dc3445258da3041e9	[Extensive @PHENOTYPICFEATURE$ in chronic @DISEASE$].	false
+3f3ab46ce3475cbd928ffd00bb5eb18530513fe9	[A case of multiple @PHENOTYPICFEATURE$ associated with @DISEASE$].	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+412b357000700577dc634f706a127a2989905336	@PHENOTYPICFEATURE$ is associated with chronic @DISEASE$.	false
+0c283fb6cb434117ff3d74e6d58eb62a54964e1a	Widespread @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+b3eeca815804f965246a2ad73ba8a9d52637645c	[Campylobacter jejuni bacteremia in a patient with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+2eb1eb065848faaf97615cf41877e54aed3ed70d	A total of 99 patients with gastric cancer (94 adenocarcinoma, 2 adenosquamous cell carcinoma, 3 @DISEASE$) and 150 control cases with epigastric complaints such as nausea, vomiting, diarrhea, gastroesophageal reflux and @PHENOTYPICFEATURE$, were included to the study.	false
+dd75d717cf62ac1d0a9a5b5e0979d1e57ea750fb	A total of 99 patients with gastric cancer (94 adenocarcinoma, 2 adenosquamous cell carcinoma, 3 @DISEASE$) and 150 control cases with epigastric complaints such as nausea, @PHENOTYPICFEATURE$, diarrhea, gastroesophageal reflux and abdominal pain, were included to the study.	false
+809790bed50c02385fed5440fa7e6c7a762d3f1e	Primary pulmonary @DISEASE$ (NHL) is an extremely rare @PHENOTYPICFEATURE$ accounting for 0.4% of all lymphomas.	false
+9c9a4d5f23755cf5325afd9edd5451ece620c247	The case of an elderly immunocompromised man with @DISEASE$ who presented with fever, @PHENOTYPICFEATURE$ and bloody diarrhea is described.	false
+c1902f460c9af5c879f82059ccef91063fcf8ee4	A 53 year old male, with a previous history of @DISEASE$ (NHL), presented with severe right sided frontal headache, @PHENOTYPICFEATURE$, and ophthalmolplegia due to a third nerve palsy.	false
+4586674d789931e893b829d29452720d4cdcd9fa	T. gondii pneumonia must be considered in AIDS patients with severe diffuse bilateral @PHENOTYPICFEATURE$, especially when associated with a very low CD4 cell count or @DISEASE$.	false
+b3c67c76ca609230d695a1febbbf4ffdd673b401	OE were distributed as follows: herpes zoster, 9 cases (43%), Pneumocystis carinii @PHENOTYPICFEATURE$, 5 cases (24%), Kaposi sarcoma,3 cases (14%) and tuberculosis, cerebral toxoplasmosis, cytomegalovirus retinitis, and @DISEASE$, 1 case each.	false
+6d1696e5a0778c6e7d092664a158134c93b81455	A 66-year-old woman presented with new onset @PHENOTYPICFEATURE$ following her first dose of chemotherapy comprising Rituximab, Cyclophosphamide, Hydroxydaunorubicin, Oncovin and Prednisolone (R-CHOP) 10 days earlier for @DISEASE$.	false
+1ca049e4b3d46a1b53a2aac8d5928c6c2ef546e1	A 72-year-old woman with @DISEASE$, dyspnea, @PHENOTYPICFEATURE$, diarrhea, and eosinophilia.	false
+c00ef5a98a411bdce73636781ff45ff322818125	Among 19 @DISEASE$ patients, eight patients have developed progressive disease and two patients have died from bilateral @PHENOTYPICFEATURE$ or radiation-induced cardiomyopathy.	false
+e44f052802d0273a6d9e4d7cb35eb0432d310396	We report a 16-year-old pubescent pediatric patient with @DISEASE$ (OSAS) and @PHENOTYPICFEATURE$ whose apnea hypopnea index (AHI) was significantly reduced following the use of an orthodontic oral appliance that advances the mandible ventrally.	false
+8e580ea658ef05c77eaa17c9fb4667837ef999e7	@DISEASE$: blood viscosity, blood @PHENOTYPICFEATURE$, and early atherosclerosis.	false
+800086bc80f2617024bf7e820b13c34c007063e3	@DISEASE$ is associated with dyslipidemia, @PHENOTYPICFEATURE$, and insulin resistance.	false
+030721c5ffcfc484c24e22a7637110059df17a4e	Besides @PHENOTYPICFEATURE$, diabetes mellitus, arterial hypertension and coronary heart disease, the @DISEASE$ (OSAS) challenges the available equipment and the staff involved.	false
+5eb9da02c555151972a4575a9be7cf90af8bb00e	Burning mouth syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder, more common in peri and postmenopausal females, with a varied symptomatology.	false
+2e905201cb19333c4180166e3a05d0809c6b9506	We present evidence that @DISEASE$ is associated with increased depressive symptomatology and enhanced oral cavity @PHENOTYPICFEATURE$.	false
+be5b67b45cfacc34d6c09ac5c444a85cde27af37	More recently a neuropathological basis has been proposed so that BMS may be regarded as an @DISEASE$ or @PHENOTYPICFEATURE$ neuropathy.	false
+c335b2dd420eafa31f60023a0d9c5f7ea137f174	More recently a neuropathological basis has been proposed so that @DISEASE$ may be regarded as an oral dysesthesia or @PHENOTYPICFEATURE$ neuropathy.	false
+5cc0468347b93280ce47c0f2e858782b34c1f27f	The burning mouth syndrome (@DISEASE$) is an oral @PHENOTYPICFEATURE$ disorder.	false
+8797a7b3c8db9666ceb420680fd60de145ec45b6	Neither patient presented with facial @PHENOTYPICFEATURE$ @DISEASE$ at the time of peak tumor volume.	false
+0d79c49cd1a3ee9d2ea0fa0e5f9ab1010ba9a54d	Topical treatment with betamethasone-17-valerate (@DISEASE$) significantly reduced ear @PHENOTYPICFEATURE$ and epidermal hyperplasia and also decreased the CD3(+) infiltration.	false
+9f5b0b7cf42b7b6c74a736a2fc9c85d2528670df	Burning mouth syndrome (@DISEASE$) refers to chronic orofacial @PHENOTYPICFEATURE$, unaccompanied by mucosal lesions or other evident clinical signs.	false
+eda4e8674e8119563b11434f87b291e46cfba345	In addition to a burning sensation, the patients with @DISEASE$ may also complain unremitting oral mucosal @PHENOTYPICFEATURE$, dysgeusia, and xerostomia.	false
+5d4e42aa561e94e376ba71fe0bd513fdca0b0fb5	Furthermore, the results suggest that @DISEASE$ may be classified as a complex somatoform disorder rather than a neuropathic @PHENOTYPICFEATURE$ entity.	false
+0134c58631163a71f492964225f06d12324d48a2	In conclusion, early evoked @PHENOTYPICFEATURE$ @DISEASE$ is a predictor for CPSP.	false
+556484ae455831d7d4e1aa1da485804dcef968ca	Common nonhematologic adverse events (AEs)-diarrhea, nausea, @PHENOTYPICFEATURE$, and fatigue-were generally grade 1 and 2. Most common grade 3 and 4 hematologic @DISEASE$-thrombocytopenia, anemia, and neutropenia-were manageable.	false
+3e53ab7dbd450c6371705b0e2d54e8dcb60da654	Few findings by ultrasound and pathology were found in case 1 because it was a late infection; the other cases presented findings corresponding to congenital @DISEASE$ syndrome: craniofacial malformations, cerebellar hypoplasia, anomalies of the corpus callosum and @PHENOTYPICFEATURE$, all confirmed in autopsy specimens.	false
+0d8da5d585222b7bd97f459671abf71780ed7d30	The clinical presentation of these 6 patients was as follows: 3 were admitted to the hospital for acute enteric disease resulting in severe dehydration associated with upper respiratory symptoms; 1 had fever, otitis, and @PHENOTYPICFEATURE$; 1 had a sample obtained to investigate failure to thrive; and 1 had a sample obtained for exploration of @DISEASE$ and hyperleucocytosis.	false
+d08225fcaf5e24fc3e54f09129c2420af3c5c1d0	We report the ultrastructural findings in superficial peroneal nerve biopsies in two patients, one with idiopathic @PHENOTYPICFEATURE$ and the other with the Guillain-Barr? syndrome and @DISEASE$.	false
+fc91a49cc3c48c4bb3b270d3c51d4c5aebdf06f9	About 20% of the cases are associated with @PHENOTYPICFEATURE$, and cases related with @DISEASE$ are rare.	false
+fd2a47bc9d58fb80746b69135ce5664aaa12a901	Laparoscopic splenectomy is effective and technically feasible for treating various hematological diseases such as idiopathic thrombocytopenic purpura (ITP), congenital @PHENOTYPICFEATURE$, hemolytic anemia, and @DISEASE$.	false
+106060109c1cf67d10ecd85f17568874bb1c1837	In one girl the initial workup led to the diagnosis of nodular sclerosing @DISEASE$ which so far had not caused any symptoms besides the described @PHENOTYPICFEATURE$.	false
+91eed314f716c8bfaa899125fe456880a83ff1b8	To identify factors associated with @PHENOTYPICFEATURE$ (BMD) in survivors of childhood cancer the authors examined 114 patients (70 males) who had been treated for acute lymphoblastic leukemia (ALL; n = 43), @DISEASE$ (HD; n = 35), and solid tumors (ST; n = 36) twice.	false
+1b4eb9aa3f8e5d8aa75436bdeb5fdd4621488889	@PHENOTYPICFEATURE$ (acute lymphoblastic leukemia and @DISEASE$) and adrenocortical carcinomas occurred at a frequency of 4.2 and 3.6%, respectively.	false
+491bdc087f71d2fa5a65681dd74edae53b7001b2	@DISEASE$ and multiple myeloma, among the @PHENOTYPICFEATURE$, and breast cancer among the solid tumors, are associated with this late complication more than other malignancies.	false
+8ad744978afec8065d2fa1f63e28a25e7e4fe71b	The change in the volume and structure of the various components of the red pulp were studied in 60 controls and in cases of traumatic rupture, idiopathic thrombocytopenic purpura, aplastic anaemia, autoimmune haemolytic anaemia, congenital @PHENOTYPICFEATURE$, splenic congestion, and @DISEASE$.	false
+ed6016258481f7da62b7fdf056c3dc2ce2c9ab6f	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+8a234e0e2d153a7c1af2d1e9ad01caec14323d2e	The second group includes neoplastic diseases as acute leukemia, non-Hodgkin lymphoma, and @DISEASE$ with myelofibrosis, malignant histiocytosis and non-@PHENOTYPICFEATURE$, like the neuroblastoma and the embryonal rhabdomyosarcoma.	false
+4823356c9ff559569bc1473b248a72d3c6ce4eec	One patient with @DISEASE$ who erroneously received vincristine 0.8 mg/m2 instead of 0.08 mg/m2 for 4 1/2 days developed transient myalgia, ileus, and a transient @PHENOTYPICFEATURE$; the patient achieved a sustained complete remission for 15 months and died of unrelated causes.	false
+c5e31ceecf9740b5c339e449393593749228f4ce	In experimental animals the most common defects are @DISEASE$ with associated functional and behavioral problems 17, @PHENOTYPICFEATURE$ and cataracts.	false
+e0c78803ff13289a5d5baaa4467fef666b0c5be9	In experimental animals the most common defects are @DISEASE$ with associated functional and behavioral problems 17, microphthalmia and @PHENOTYPICFEATURE$.	false
+6d40452b6a89532f8c5426b8c5ef6b493f11a940	Syndromes of @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$, and joint contractures.	false
+900c7296b488d44c30eefee232a20a2143e05da4	Syndromes of @DISEASE$, @PHENOTYPICFEATURE$, cataracts, and joint contractures.	false
+61704f31127d7b10251e86501a6eed23c0d9bac7	We present two patients with a distinct facial phenotype, short stature, brachydactyly, @PHENOTYPICFEATURE$ deformities, cataracts, @DISEASE$, and normal intelligence.	false
+19969c10fae9ffc07181001685ccb536212c2503	We present two patients with a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, @PHENOTYPICFEATURE$, @DISEASE$, and normal intelligence.	false
+12f47b3dc1932a34ed1a08169660ea7ea75057e5	CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, @DISEASE$, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ @PHENOTYPICFEATURE$ and omphalocele.	false
+323182d21ba902eb78621a89086c493b94090c7d	CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, @DISEASE$, anotia/microtia, hypospadias, polydactyly, cleft palate, @PHENOTYPICFEATURE$/ microphthalmia and omphalocele.	false
+511a749a7b17050836684022055b69de28f788f5	Syndrome of @DISEASE$, @PHENOTYPICFEATURE$, cataracts, and intracranial calcification.	false
+6a0099ec2da2f5a01db47e318f01413ad4f06aed	Syndrome of @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$, and intracranial calcification.	false
+f0ff43755e809e2db836650ed87f95a34c75214c	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @DISEASE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of @PHENOTYPICFEATURE$.	false
+68bc067fa15e9b1412f278a63d6e761227d4ea44	A 2-year-old patient, diagnosed with congenital rubella syndrome including @PHENOTYPICFEATURE$, congenital heart disease, intellectual disability, @DISEASE$, microphthalmia, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+4af3e6b1a791b9bd764d19328765788d923b15a2	A 2-year-old patient, diagnosed with congenital rubella syndrome including sensorineural deafness, congenital heart disease, intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, and congenital cataract, presented to our clinic for the surgical treatment of cataract.	false
+efac5fbfd68201bc83e0aad09dbca7aa32e9eb4b	The occurrence of @PHENOTYPICFEATURE$, microphthalmia, @DISEASE$, intracranial calcification, and hydrocephalus was also recorded.	false
+aff43925a98381b28cb26b9b6ff19f5c515b460f	The occurrence of cataract, @PHENOTYPICFEATURE$, @DISEASE$, intracranial calcification, and hydrocephalus was also recorded.	false
+f4d7c0d409573d19138472c8f97e680d3565f4ff	The clinical features consisted of progressive @DISEASE$, central hypotonia, @PHENOTYPICFEATURE$, abnormal eye movements and delayed psychomotor development.	false
+1344d6ef77fccf40ce59112be3abd536d72bcd3e	The clinical features consisted of progressive @DISEASE$, central hypotonia, visual impairment, @PHENOTYPICFEATURE$ and delayed psychomotor development.	false
+2af73c592ace4b51e93e15916fe8f21edab2af80	Severe @DISEASE$, choreiform movements, cataracts and @PHENOTYPICFEATURE$ in two patients: a new syndrome?	false
+9733d257f4bcb70a2baa74e1251a995787ac371a	Severe @DISEASE$, choreiform movements, @PHENOTYPICFEATURE$ and sensorineural deafness in two patients: a new syndrome?	false
+07cd5261815c6972aabfae2b32d07d6da7ff96fd	@PHENOTYPICFEATURE$, @DISEASE$, and normal intelligence: new syndrome or Feingold syndrome?	false
+e30acdac3e8d1b38a060ba9d3d9bcc0a7cb0de68	Computed tomography (CT) was performed on 123 (77%) patients, namely all children with the exception of those with febrile seizures, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f52c3d94f851e111470ff56dc223550e4e521010	As a guideline, I would recommend that all patients, with the exception of those with absence seizures, @DISEASE$, febrile seizures, and @PHENOTYPICFEATURE$ have a CT scan with and without contrast enhancement.	false
+3a11e31e98c1865c48b369d4bd2c0d25e9944fcb	@DISEASE$ is a neurometabolic diseases characterized by symptoms include @PHENOTYPICFEATURE$, lens dislocation, long limbs and thrombosis.	false
+66f5832e865e0ae86659c7204a47f269f79a1cf5	A deficiency of CBS causes @DISEASE$ (MIM 236200), one of the most prevalent inborn errors, characterized by mental retardation, seizures, psychiatric disturbances, @PHENOTYPICFEATURE$ and vascular disorders.	false
+fb5021e904d1aa59ed41369814f638251ea5a71a	@DISEASE$ due to cystathionine synthase deficiency is an autosomal recessive error of sulphur amino acid metabolism characterized clinically by lens dislocation, mental retardation, @PHENOTYPICFEATURE$ and thromboembolic phenomena.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+ed7a0fad5c930d1ba9e4d1ad915af4e129112603	The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote cystathionine beta synthase-deficient @DISEASE$ (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, @PHENOTYPICFEATURE$, thromboembolic events, and sometimes mental retardation.	false
+01cc18bbf1685f6d193704ab89b98a007973d94e	@DISEASE$ (HCU) due to deficiency of cystathionine beta-synthetase is associated with increased plasma levels of homocysteine and methionine and is characterized by developmental delay, intellectual impairment, ocular defects, thromboembolism and @PHENOTYPICFEATURE$.	false
+69e4bdffef9e420a53425261f33573ec5d07e218	@DISEASE$ due to cystathionine-?-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, @PHENOTYPICFEATURE$ resembling Marfan syndrome, and thromboembolic events.	false
+fa3d195b3a2bd7a9865ff8363d668b6420257cde	We describe the case of a 30-year-old patient with @DISEASE$ who was treated with pyridoxine 1250-1750?mg/day for 20 years and developed progressive @PHENOTYPICFEATURE$ with ataxia and impaired sensation in the extremities.	false
+026eea1d128f2bcc83fa9935139f33ff9f47490f	@DISEASE$ (HC) is an inborn error of amino acid metabolism characterized by ectopia lentis, mental retardation, and @PHENOTYPICFEATURE$.	false
+2918f349eb9af5dbe06090cad82c34f267ddf5c7	@DISEASE$ usually presents with ectopia lentis, mental retardation, thromboembolic complications, and @PHENOTYPICFEATURE$.	false
+8c029dc77244fdd63122207b9359e75adcdb81b6	Silver-Russell syndrome (@DISEASE$) is characterized by pre- and post-natal growth restriction that spares head growth, feeding difficulties, and variable @PHENOTYPICFEATURE$ without major malformations.	false
+6977141657268077c70f71de9b46230bb567b75b	@DISEASE$ (SRS) is characterized by pre- and post-natal growth restriction that spares head growth, feeding difficulties, and variable @PHENOTYPICFEATURE$ without major malformations.	false
+33bcb69e4fb3d530903e799ff53ec1f584b3be39	The proband, aged 3 years, was suspected to have @DISEASE$ because of intrauterine growth retardation, postnatal growth retardation, typical @PHENOTYPICFEATURE$ features, macrocephaly, body asymmetry, and bilateral fifth finger clinodactyly.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+20f0ad4237170b1f2c6889a1b97a753d860295f6	SRS is listed in Mendelian Inheritance in Man as an autosomal dominant disorder because most described cases have been of sporadic occurrence, and most likely were caused by de novo autosomal dominant @PHENOTYPICFEATURE$, and because families with apparent dominant transmission of a @DISEASE$ phenotype have been described.	false
+02c5573c3b71f91ab47bc55385cace9b71af4097	Silver-Russell syndrome (@DISEASE$) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic @PHENOTYPICFEATURE$.	false
+5aad7fa4b6b7c4fee09df0cda74ee4f87f2dcf65	@DISEASE$ (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic @PHENOTYPICFEATURE$.	false
+2d60884879081d8ba22796a31ed6faa44b71e10d	Silver-Russell syndrome (@DISEASE$) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$ and body asymmetry.	false
+fff2a25ed85c46eea924d0304986a3b334233db1	@DISEASE$ (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, @PHENOTYPICFEATURE$ and body asymmetry.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+a20e842b9191c88e0694a7429ce2893d1cf794d3	Trisomy 13 (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+7f26b7af4d0c7f781c83d9fe664749d3b2d2e46a	@DISEASE$ (Patau syndrome) and @PHENOTYPICFEATURE$.	false
+7e911bc064cd2ac6d46a73abd5cd044360881186	Together with the recent reports on RAD51-associated congenital @DISEASE$ @PHENOTYPICFEATURE$, our results point to an important role for RAD51-mediated homologous recombination in neurodevelopment, in addition to DNA repair and cancer susceptibility.	false
+94318dfc2d25de74a7162a117403954d3c4bc636	Congenital @DISEASE$ @PHENOTYPICFEATURE$ is a rare condition characterized by mirror movements that persist throughout adulthood in subjects with no other clinical abnormalities.	false
+25df1980ddccfc60b46cefb04ec0d0e6e93e705c	@DISEASE$ neuron system dysfunction may underlie a self-other matching impairment, which has previously been suggested to account for @PHENOTYPICFEATURE$.	false
+a6a77f1c2b113bcea374ab10291c9de03140a9da	Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital @DISEASE$ @PHENOTYPICFEATURE$.	false
+b205cdd0436b42d17742e27d7dfaf2c4744bd366	Abnormal subcortical activity in congenital @DISEASE$ @PHENOTYPICFEATURE$ with RAD51 mutation.	false
+892df434bd1dbe0854d4617abba36c511dba4673	Assessment of the corticospinal fiber integrity in @DISEASE$ @PHENOTYPICFEATURE$.	false
+91a90f6c62bc93ff85c32a196817043e6e67bada	Congenital @DISEASE$ @PHENOTYPICFEATURE$ thus provides a unique paradigm for studying the lateralization of motor control.	false
+5b4ee1293fc617095e40b5a193b031c1ab5eecdd	Congenital @DISEASE$ @PHENOTYPICFEATURE$ (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body.	false
+bb0a3d1b790ce9edfe193020f21eaad075292102	Congenital @DISEASE$ @PHENOTYPICFEATURE$ designates involuntary movements on one side of the body that occur as mirror of the intentional movements on the contralateral side.	false
+951d59f88f350802e948bd67d8d2054d53ad8999	Congenital @DISEASE$ @PHENOTYPICFEATURE$ is a rare, typically autosomal-dominant disorder, although it has been suspected that some sporadic cases may be due to recessive inheritance.	false
+4efd19eafd2b8a95a00448706b7648932fdf7d1b	We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, @PHENOTYPICFEATURE$, keratopathy, myopathy, and mental retardation, the possibility of @DISEASE$ should be considered.	false
+ddd0ad9097aec922ca7888a0bc7ccbdbe758cb14	We report a patient with @DISEASE$ with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in @PHENOTYPICFEATURE$ and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia.	false
+2c89a4ec4699716e9cf1cbec857945bc6621bb09	We describe 475 patients from the Johns Hopkins Hospital inpatient records between January 1993 and December 2001 for the following discharge diagnosis codes: myoglobinuria, rhabdomyolysis, myopathy, toxic myopathy, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and @DISEASE$.	false
+dc3ff6f5110bfd5b9eab0060c53e0556339ac94f	We investigated the outcome of 12 patients with interstitial @PHENOTYPICFEATURE$ (IP) associated with @DISEASE$ and dermatomyositis (PM/DM).	false
+20595fadc8f4c68abb091aa8d069a3ef150aaf04	@DISEASE$/dermatomyositis, @PHENOTYPICFEATURE$ and Addison's disease, three conditions regulated by the HLA-B8-DR3 haplotype, were most strongly associated with MG, especially early-onset disease.	false
+c3f2a8e2dc403771884c2f5bfef3931db194abfb	Common CTDs with lung manifestations are rheumatoid arthritis, scleroderma or systemic sclerosis, Sj?gren syndrome, @DISEASE$/dermatomyositis, @PHENOTYPICFEATURE$, mixed connective tissue disease, and undifferentiated connective tissue disease.	false
+26411d2026bcedc82bfd7c779c3a031a683af857	Anti-synthetase syndrome: a new autoantibody to phenylalanyl transfer RNA synthetase (anti-Zo) associated with @DISEASE$ and interstitial @PHENOTYPICFEATURE$.	false
+c1b1f5446548c21c0b0256d2c34da5bb8120ccf5	Notably, these neoplasms shared significant associations with 5 ADs (immune thrombocytopenic purpura, @DISEASE$/dermatomyositis, rheumatoid arthritis, Sjogren syndrome and @PHENOTYPICFEATURE$).	false
+afed92f6da0e844a3395fb6c1e7a3c16e82c19e6	We present two cases of @DISEASE$ (PM) associated with interstitial @PHENOTYPICFEATURE$ (IP) whose sera contain autoantibodies to OJ (isoleucyl tRNA synthetase).	false
+b81a438c84242cffe7997578d9bf5eb81d4a71be	Pediatric-onset mixed connective tissue disease is among the rare disease entities in pediatric rheumatology and includes features of arthritis, @DISEASE$/dermatomyositis, @PHENOTYPICFEATURE$, and systemic sclerosis.	false
+046c1e8c86bca4487a6d276085a00429e22247e9	We report the case of a 49-year-old man who presented with pneumatosis cystoides intestinalis associated with @DISEASE$ and interstitial @PHENOTYPICFEATURE$.	false
+19885401f9c17ef03ce4d5d7eb2dfa69726db786	The distribution of underlying CTD was 17 patients with @PHENOTYPICFEATURE$; 15 with rheumatoid arthritis; 14 with systemic vasculitis; and nine with @DISEASE$-dermatomyositis.	false
+8591ca7619c9e3c102f1e5bd177d8bc9e0189a17	@DISEASE$ is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), @PHENOTYPICFEATURE$, and intellectual disability.	false
+6ddf9f7242c6bb8ac0878065e591282df0debb3e	Type 1: soft tissue defect reached incisive foremen region, Type 2 was hard and @DISEASE$, Type 3 soft cleft palate and Type 4 submucous @PHENOTYPICFEATURE$.	false
+1977e85e1a842612d871449193d86f75246493ab	Type 1: soft tissue defect reached incisive foremen region, Type 2 was hard and soft cleft palate, Type 3 @DISEASE$ and Type 4 submucous @PHENOTYPICFEATURE$.	false
+8023afa197fec18366e242618a77d02702ac0761	There were 16 cases of incomplete cleft palate and 32 cases of complete @PHENOTYPICFEATURE$; and 16 cases of @DISEASE$ and 32 cases of soft and hard cleft palate.	false
+82eb6c31eda971d959a865fb753aa169be5be721	There were 16 cases of incomplete cleft palate and 32 cases of complete cleft palate; and 16 cases of @DISEASE$ and 32 cases of soft and hard @PHENOTYPICFEATURE$.	false
+ce57eb47e7fa3948246bf6995cebae1707778657	There were 16 cases of incomplete @PHENOTYPICFEATURE$ and 32 cases of complete cleft palate; and 16 cases of @DISEASE$ and 32 cases of soft and hard cleft palate.	false
+c3e0f557872d0235bc793fe20f254bb550dc2ba0	The first patient, a male, was born at term by Cesarean section and manifests micrognathia, @DISEASE$, hypoplastic right ear, anotia on the left side, @PHENOTYPICFEATURE$, hydrocephalus, agenesis of the corpus callosum, and hypoplastic left heart.	false
+3adfa247e45f730609379ad5099609deaaca8544	A 10-year-old girl was referred with blue sclera, osteopenia, poorly-healing fragility fractures, Wormian skull bones, @DISEASE$, congenital fusion of cervical vertebrae, progressive scoliosis, bell-shaped thorax, restrictive and reactive pulmonary disease, protrusio acetabuli, short stature, and additional dysmorphic features without @PHENOTYPICFEATURE$.	false
+b25d5a6d13cc127650f171ca0728fdc9f4a7a39b	There were also significant differences in the rate of secondary pharyngoplasty according to type of cleft: 50% (6/12) for patients with bilateral cleft lip and palate, 44% (7/16) for those with hard and soft cleft palate, 21% (8/38) for those with unilateral cleft lip and palate, 20% (3/15) for those with submucous @PHENOTYPICFEATURE$ and 12% (4/33) for those with @DISEASE$.	false
+e84feac562fe442b3ac959f459f5f036f6dc92c9	There were also significant differences in the rate of secondary pharyngoplasty according to type of cleft: 50% (6/12) for patients with bilateral cleft lip and palate, 44% (7/16) for those with hard and @DISEASE$, 21% (8/38) for those with unilateral cleft lip and palate, 20% (3/15) for those with submucous @PHENOTYPICFEATURE$ and 12% (4/33) for those with soft cleft palate.	false
+8f5e6126c03e9d1cab8631f090c90bef47e9d5a0	Cleft types were unilateral cleft lip and palate (UCLP, 30.0%), bilateral cleft lip and palate (BCLP, 28.7%), @PHENOTYPICFEATURE$ (CP, 21.6%), @DISEASE$ (cleft velum, CV, 10.8%), cleft lip and alveolus (CLA, 5.8%) and submucous clefts (SUB, 3.2%).	false
+13602602a75ca1afd64d14a51034a30a142994d3	An inborn @DISEASE$ of purine metabolism, deafness and @PHENOTYPICFEATURE$.	false
+f6503885fd0a8f976851785de2257b492e258643	Children with inborn @DISEASE$ of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit cognitive deficits and @PHENOTYPICFEATURE$.	false
+76da5aba5fc6428040f802f134871bad75a65792	The Environmental Rating Scale (@DISEASE$): a measure of the quality of the residential environment for adults with @PHENOTYPICFEATURE$.	false
+c432b2f4d6797704da15313910b23086c7c6fae7	In conclusion, we describe an inborn @DISEASE$ of glutamate metabolism caused by a GLS @PHENOTYPICFEATURE$ variant, illustrating the importance of balanced GLS activity.	false
+7c47813c17e804ae046920784b38cfc41942c22c	The association between embryonic @DISEASE$ and the development of @PHENOTYPICFEATURE$ has been recognized in the literature, but the mechanism underlying this association remains unknown.	false
+a124bfff8093cac6d0d63617d13b4e593912dadf	beta-Ureidopropionase deficiency: an inborn @DISEASE$ of pyrimidine degradation associated with @PHENOTYPICFEATURE$.	false
+c53b0b38961cb7b5432f2e40e34a99fbeb64c5dd	This is of special interest since inborn @DISEASE$ of folate metabolism are often associated with severe @PHENOTYPICFEATURE$.	false
+1ee6dfb931221c3bdb22b1ca0c8e07c06f8bb6f9	@DISEASE$ @PHENOTYPICFEATURE$ disclosing Graves' disease and paralleling thyroid function but not autoantibody levels.	false
+8d3e74c399436ce4ceafb14a27b4f6612835543e	Seven patients, six boys and one girl, ranging in age from 2 years 7 months to 5 years 6 months at first contact, presented with severe @PHENOTYPICFEATURE$ and dysphasic @DISEASE$.	false
+01a5a556201bea6e5539c192119dc98b3f7687f9	This article provides an overview on @PHENOTYPICFEATURE$ present in childhood secondary to inborn @DISEASE$ of metal transport and neurotransmitter metabolism.	false
+5b52bc209d9240ccec92bee224ce76ed12dc6a6d	@DISEASE$: an early variant of @PHENOTYPICFEATURE$.	false
+4486096c49c75143537b7eb37923017fd4453807	Intravenous hypertonic saline is used briefly and administered in a highly controlled manner when patients with @DISEASE$ present with @PHENOTYPICFEATURE$ and coma.	false
+18c0a455d56f432168ee5c90249ef642159fee36	The T2 signal of the @PHENOTYPICFEATURE$ was isointense to gray matter in the majority of @DISEASE$ patients, but showed a significant increase in all but one patient with isolated HH.	false
+d845e8f240b2531b670435038008cd7c95413b91	However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a @PHENOTYPICFEATURE$, favoured the diagnosis of Pallister-Hall syndrome (@DISEASE$), which was then genetically confirmed by detection of a GLI3 mutation (Q717X).	false
+ee87c795173aa1e59b86c808911ee265a2a9725d	However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a @PHENOTYPICFEATURE$, favoured the diagnosis of @DISEASE$ (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X).	false
+879f71ac92d66609b32274a310fd67f8063fe227	One of the causes of the pituitary gland agenesis may be a formation of the primary hypothalamic ganglionic @PHENOTYPICFEATURE$ just at the time of occurrence of the pituitary primordium, as analyzed in cases of @DISEASE$.	false
+f1cbc243b96e0494f4e476004d3959baa85810b3	Their indications for use as initial therapy were mucormycosis (7/10), @PHENOTYPICFEATURE$ (7/10), @DISEASE$ (2/10) and aspergillosis (2/10).	false
+da3630303636a6767c08565a8faf1c11b1681df2	While the risks of @DISEASE$ are relatively low, focal or @PHENOTYPICFEATURE$ may be produced during programming of MCS systems.	false
+1b85d53548e603b3aa49485984c4302719823cf9	PSG measures of sleep disruption including stage changes, awakenings, time in N1 sleep, and @PHENOTYPICFEATURE$-hypopnea and total arousal indices were negatively associated (p<0.05) with @DISEASE$ scores (lower scores indicating poorer HRQoL).	false
+68ff4e62c2758f84ff7237d7c58be04e2320347b	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (@DISEASE$, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia.	false
+9ccf581ea757670f88b1ab5b740124462536461e	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of @DISEASE$ (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia.	false
+be4fa406d630737b8b0e2c46bfe309f8eb0ec841	Three features not previously associated with @DISEASE$ are reported: dementia, generalized muscle and @PHENOTYPICFEATURE$, and in one case neuropathological examination revealed atrophy of the inferior olives.	false
+61f849147d61f8055ccaf276a2ee287833ed1998	A 29-year-old man (Han Chinese, Hoklo) with @DISEASE$ experienced severe chronic pain in both feet, cutaneous thermal change, thermal hypersensitivity, focal @PHENOTYPICFEATURE$, and sweating and had a history of bone fracture.	false
+11c7ecf7292cba52a9e928e8db828486f1ccfeff	As early as the 1940s, erythema multiforme exudativum (@DISEASE$) and hemolytic anemia were associated with outbreaks of atypical @PHENOTYPICFEATURE$, a disease later found to be caused by Mycoplasma pneumoniae.	false
+fd1da8437b5e3a23ac2c37c8d813442796d91085	No severe adverse event including myelosuppression, congestive heart failure, liver functional impairment, intestinal @PHENOTYPICFEATURE$, or @DISEASE$ occurred, and the liver metastasis remained stable for 4 months.	false
+92b56300c43e2f502c7beca2ed0595c7f1216288	[@DISEASE$ associated with atypical @PHENOTYPICFEATURE$].	false
+814295dd7d7a678394ae2917e7b9f797b76030d7	Its use is associated with a myriad of adverse reactions, including: eosinophilia, selective IgA deficiency and panhypogammaglobulinemia, pseudolymphoma, @DISEASE$, and interstitial @PHENOTYPICFEATURE$.	false
+50b69f20c2e80436d3c54175a78ab6b43de1bcf2	Pustular @DISEASE$ associated with atypical @PHENOTYPICFEATURE$.	false
+a1f5cec087d74ada57c878f3235e0b57fb34c71e	Adverse events with a relatively high frequency included nausea, @PHENOTYPICFEATURE$, pancreatitis, hepatic failure, hypoglycemia, and increase in levels of alanine aminotransferase, bilirubin, alkaline phosphatase, aspartate aminotransferase, and gamma-glutamyltransferase. It is noted that cholestasis, jaundice, an increase in International Normalized Ratio, and @DISEASE$ were also, although they were infrequent.	false
+88caf4d9d6325d391af345012ac2eff114a70f98	Carbamazepine, widely used in the treatment of partial and @PHENOTYPICFEATURE$, has been associated with life-threatening @DISEASE$/toxic epidermal necrolysis among some Asians.	false
+a1d6a13b335da394cebe477a6512f67fa513fac8	Uncommon endocrine and paraendocrine syndromes include production of human chorionic gonadotropin by tumors other than those of germ cell origin, hyperthyroidism associated with struma ovarii and gestational trophoblastic disease, the carcinoid syndrome, the Zollinger-Ellison syndrome, @PHENOTYPICFEATURE$, Cushing's syndrome, hypoglycemia, hypertension related to renin or aldosterone production, hyperprolactinemia, inappropriate secretion of antidiuretic hormone, and virilization associated with Nelson's syndrome and @DISEASE$.	false
+41ecaaf227e61ea330daa207b7ee2b0241d552cc	These are the first MYO15A mutations reported to cause @DISEASE$ @PHENOTYPICFEATURE$ in the Iranian population.	false
+010db006e1cae243035cdb0ee10baed0548f54bf	Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney @PHENOTYPICFEATURE$: on the spectrum of kidney involvement in @DISEASE$.	false
+00f80294eb0b2a412cac697466f764349a295f81	One renal cell carcinoma tissue showed a somatic A3243G mutation, which is a known frequent cause of @DISEASE$ (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episode) and specific compensatory alterations of enzyme activities of the respiratory chain in the @PHENOTYPICFEATURE$ tissue.	false
+3d45d5ecc48272df6079ba32c84e464142f28cf9	The child also had moderate @PHENOTYPICFEATURE$ and @DISEASE$.	false
+524a231720b78daba2abb3049b9f1f7a4ea5d189	Social @PHENOTYPICFEATURE$ and @DISEASE$: what are we trying to explain?	false
+6f04db9c7bbb9975c40ad5741069d95bfc47c890	The specificity of hyperserotonemia for @DISEASE$ versus @PHENOTYPICFEATURE$ is also assessed.	false
+3aa8893f9ce0e4fedf14dc98d9d0034f5d448b75	He also had @DISEASE$ and severe @PHENOTYPICFEATURE$.	false
+7bbe0160f7e5b389636e72efe02d9a4768662614	Neurological manifestation includes cortical dysplasia, epilepsy, and @PHENOTYPICFEATURE$ such as mental impairment and @DISEASE$.	false
+66e8aeab206dbae6cfff58695896fadec0d6bf85	Neurological manifestation includes cortical dysplasia, epilepsy, and cognitive deficits such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0dee75e3d968c04b75dc29fe59e36d581ac1a8df	Communication disorders may be misdiagnosed as @PHENOTYPICFEATURE$ or @DISEASE$.	false
+c269427f1aa40a17e71e87546bf457be69547cc4	ICSI-conceived children may be at increased risk of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+07a3cf54cc1f32dd1fee7a7c6e4f37ec3206de0d	@DISEASE$, @PHENOTYPICFEATURE$, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients.	false
+77760d82b9c7bb392a502d323bfb64f2f7bac463	Clinical features included craniofacial dysmorphisms, @PHENOTYPICFEATURE$, and mental retardation, besides behavioral symptoms compatible with @DISEASE$.	false
+839c6c579121bde71c27e979a10cc48d56c3e6c0	@PHENOTYPICFEATURE$ was uniquely linked with p,p'-DDT, and @DISEASE$ with o,p'-DDT.	false
+1ea43fc48b6b5d5d48e1d5f85d8c289fcfc3e061	We present an HIV-infected woman in whom antiretroviral treatment with tenofovir disoproxil fumarate (TDF) induced severe skeletal @PHENOTYPICFEATURE$, synovial effusions and multiple fractures secondary to a @DISEASE$ with hypophosphatemia and osteomalacia.	false
+95e44f004ab6eb736e45e0be6ff643d82e295948	One hundred forty-eight children, aged 0 to 12, with nephropathic cystinosis before renal transplant, who had renal tubular @DISEASE$, failure to grow, corneal cystine crystals, and elevated leukocyte cystine; 34 patients, aged 9 to 29, after transplant, some with @PHENOTYPICFEATURE$, corneal erosions, pancreatic dysfunction, or neurologic deterioration.	false
+358fc869dee4d22cfae725d8102cdc1a0c8bbe3b	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral @PHENOTYPICFEATURE$, mental retardation, neonatal hypotonia, and renal @DISEASE$, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects.	false
+cbc75e429c0082ece27d4492308599e49b882035	Here, we report one case of a 5-year-old girl who presented with progressive deterioration of her clinical status, which included systemic electrolyte disturbance, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6898192f0d3dae60161a0417e2d301b8a927693d	Oculocerebrorenal Lowe syndrome is a rare X-linked disorder characterized by bilateral @PHENOTYPICFEATURE$, mental retardation and renal @DISEASE$.	false
+a81a49ccd32e19a299cd6abb3e7b51c7f92f4484	It presents @PHENOTYPICFEATURE$ and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal @DISEASE$.	false
+e6ed618f21bc77ae2c4f9f45fad74b76c7925e63	Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, @PHENOTYPICFEATURE$, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, @DISEASE$, lactic acidosis, and acute encephalopathy.	false
+c09278395120e4ae08a998632741beba99b45bd0	Subsequently he had episodes of @PHENOTYPICFEATURE$ and dyspnea, due to alveolar hemorrhage, and he also developed @DISEASE$.	false
+87f65edd673d45b9d0380bb99c59f2e422affa4d	A hitherto undescribed association of @PHENOTYPICFEATURE$ and @DISEASE$ (FS) is reported in a 10 year old black male.	false
+771120d7377cb614ca9ad80ff63e3353a8317fa0	This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; @DISEASE$; and keratitis, ichthyosis, and @PHENOTYPICFEATURE$ syndrome, all of which share some clinical features.	false
+6bbc8d88e2809ccbe2d3d3e02f474b5ba0245709	@DISEASE$ (CS) is characterized by increased photosensitivity, growth retardation, and neurological and @PHENOTYPICFEATURE$.	false
+a0d254092051cc0a9a55531f2de4b8b0b0100555	@DISEASE$ is a premature aging disease associated with numerous developmental and @PHENOTYPICFEATURE$, and elevated levels of reactive oxygen species have been found in cells derived from Cockayne syndrome patients.	false
+ff03e38eea4b28385a0f7024b8640c4b6ebf0f43	Cockayne syndrome is a premature aging disease associated with numerous developmental and @PHENOTYPICFEATURE$, and elevated levels of reactive oxygen species have been found in cells derived from @DISEASE$ patients.	false
+a97b400805d8dc02bc26a70fc253e30a9b440eef	@DISEASE$ without typical clinical manifestations including @PHENOTYPICFEATURE$.	false
+18831c1216e2bcb09823af813e75fbd7da27d57b	@DISEASE$ patients show UV sensitivity and severe @PHENOTYPICFEATURE$.	false
+44b8d1ec11658a9f32e3785175526bc18e6f6c16	@DISEASE$ patients exhibit severe developmental and @PHENOTYPICFEATURE$.	false
+dbd49803a5955401394e034a296a281c59103b91	Patients with @DISEASE$ should be evaluated carefully for @PHENOTYPICFEATURE$.	false
+24deffd5799d23047db2502bb5895ec89b2aafce	@DISEASE$ (CS) is a human disease characterized by sensitivity to sunlight, severe @PHENOTYPICFEATURE$, and accelerated aging.	false
+49771898b5a53c5103005093261baf898e720bad	@DISEASE$ manifests a spectrum of neurological dysfunction that includes medically intractable @PHENOTYPICFEATURE$.	false
+fa685de50d812374dce91a29c02a6c6c00bcdd4c	He has neither @PHENOTYPICFEATURE$ nor @DISEASE$.	false
+dcc61d7c6910c6c361f08238819acaac373bdbe6	These range from mild freckling to severe skeletal and @PHENOTYPICFEATURE$ characteristic of @DISEASE$.	false
+a6c269113d07f6ca01acb9562f73a3688aa1862d	We included RCTs of ACDF versus ACDA in adult patients with single-level cervical spondylosis reporting at least one of the following outcomes: functionality, neurological success, neck pain, arm pain, quality of life, surgery for adjacent level degeneration (@DISEASE$), reoperation and dysphonia/@PHENOTYPICFEATURE$.	false
+fc22615f39028c60be2c744401a226ed27464db7	A 43-year-old female with adrenoleukodystrophy (@DISEASE$) is described, who developed spastic tetraparesis, suffered @PHENOTYPICFEATURE$, and became stuporous and demented during the last 5 years of her life.	false
+df222f74a291d0fd008d0d6356a9c86c4c838940	@PHENOTYPICFEATURE$ C, either alone (442 [42%]) or in combination with alcohol-related liver disease (@DISEASE$) (228 [22%]), accounted for two-thirds of the cases.	false
+7741c4a515395957cb02d48864f93e04be3dc2a5	ACDA is associated with non-statistically significant higher improvement in the Neck Disability Index Score and lower incidence of @DISEASE$ requiring surgery, reoperation, and @PHENOTYPICFEATURE$/dysphonia.	false
+06ae44ee161eaaebf713cc4a4f099a249b60f52d	@DISEASE$ and thrombotic microangiopathy: favourable outcome despite advanced @PHENOTYPICFEATURE$.	false
+5adc19cb9555d4cc11537c9e0fe29c7a4b7027da	We report a 3 1/2-month-old infant with features of @DISEASE$, plus thoracic @PHENOTYPICFEATURE$ radiographically similar to those seen in spondylothoracic dysplasia, a condition in which block thoracic vertebrae with widely open neural arches and a fan-shaped thoracic cage are found.	false
+140f7af064df9a268bd1a5eaf4de344db4f0c4f2	According to the reviewed literature, the most common clinical presentation included females with median age of 48 years; presenting symptoms such as headache, weakness/@PHENOTYPICFEATURE$, seizure, and altered mental status (@DISEASE$)/confusion; multiple lesions mostly supratentorially located; poorly differentiated squamous cell carcinoma; and additional recurrences at other sites.	false
+665d387cabb4c8a6ea3fee68f8ce11158de3d515	Therefore, the present review summarizes the various pathological mechanisms and also explores the therapeutic strategies which could be useful to @DISEASE$ @PHENOTYPICFEATURE$ like Parkinsonism.	false
+c2de7a85c4e4588bd60eca074ec0f86d52bf34ac	Apparent mineralocorticoid excess (@DISEASE$) characterized by early-onset @PHENOTYPICFEATURE$ and hypokalemia is due to congenital deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD).	false
+d91bf5b82b75a69211422c8266b913c357268411	Essential @PHENOTYPICFEATURE$, lower hemoglobin and uric acid are risk factors of young women with @DISEASE$.	false
+226f12b89597905887b3511aaf1fb62df282c497	Arterial @PHENOTYPICFEATURE$ and hypercholesterolemia were more prevalent in @DISEASE$ (77 vs. 36% and 75 vs.	false
+aaa5fab7716ed74234f69c8ae8ff233f3382ac6a	Arterial hypertension and @PHENOTYPICFEATURE$ were more prevalent in @DISEASE$ (77 vs. 36% and 75 vs.	false
+4de8b0d1ea7c744afb62d95e83de400b2b40e100	The use of invasive procedures was associated with a lower risk of all-cause mortality, adjusting for type of AMI and @PHENOTYPICFEATURE$ disorder, age, gender, registration unit, history of @DISEASE$ and comorbidity score (HR 0.35, 95% CI 0.21-0.59),	false
+71d10dd1e20932aefee2ce16714fdfb9213cf52a	The use of invasive procedures was associated with a lower risk of all-cause mortality, adjusting for type of @DISEASE$ and @PHENOTYPICFEATURE$ disorder, age, gender, registration unit, history of AMI and comorbidity score (HR 0.35, 95% CI 0.21-0.59),	false
+d4e84898e116b2458491e7f6b0da37835ba93e45	Six North @DISEASE$ @PHENOTYPICFEATURE$ clinics.	false
+71f3681cda5b3a9f70196939971f7f712de1a506	We conclude that Tlr4- and/or C3-deficiency fail to @DISEASE$ @PHENOTYPICFEATURE$, and other pathways may be involved.	false
+f6e61a31c3030ea0e2fba68363b626b4e4e31c64	A monoclonal antibody to @DISEASE$ @PHENOTYPICFEATURE$ and improve survival in a murine model of human Enterovirus-A71 encephalomyelitis.	false
+ec074abfc12becdd203814baf620dadf4318b078	This report illustrates the difficulty in determining a strict genotype-phenotype correlation in @DISEASE$, and supports screening for oligosaccharides in children with @PHENOTYPICFEATURE$ with mild phenotypic signs and symptoms.	false
+ca597449354e7c3610d4cf8f19e894c3f70f49ed	The @DISEASE$ and low 1,25 (OH)2 D plasma levels frequently associated with the disease reflect a complex enzymatic disorder thought to be caused by a humoral mediator secreted by the @PHENOTYPICFEATURE$.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+dde04e28c3a6a6f941303587d562403b8bc27336	Fetal @PHENOTYPICFEATURE$ @DISEASE$ (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional nephroblastoma.	false
+67d2bd4a891e3311868af6b1fcf592c38c202c3b	Fetal @PHENOTYPICFEATURE$ nephroblastoma (FRN) is a rare variant of Wilms tumor with distinct morphologic features and biologic behavior compared to conventional @DISEASE$.	false
+e93fdf0477a13aeb16635740f5a3d3f473eb0622	Fetal @PHENOTYPICFEATURE$ nephroblastoma (FRN) is a rare variant of @DISEASE$ with distinct morphologic features and biologic behavior compared to conventional nephroblastoma.	false
+7c1ff02ea6ddc475f4415547a5a1d0c8eeccc4c8	The preoperative diagnosis of @DISEASE$ in adults is difficult because there are no specific radiographic findings that allow to distinguished it from the more common adult @PHENOTYPICFEATURE$.	false
+2a49314b99fc47be6b815d8782653aee6dd8954d	Previous data suggested an association of @PHENOTYPICFEATURE$ with @DISEASE$.	false
+bb6044c2457112ae0f3504fd1b63694da30720d0	Nephron sparing surgery is the standard of care for many adults with @PHENOTYPICFEATURE$ and has been described in some children with @DISEASE$.	false
+162dab47d58319b6f1e659f8fa71ab0925c5b026	One patient had bilateral @DISEASE$, and one patient had a metanephric @PHENOTYPICFEATURE$.	false
+ab04cc36b62262823f35536afdd264379024262a	@DISEASE$, cardiac @PHENOTYPICFEATURE$, persistent visceromegaly, and glomeruloneogenesis in a 2-year-old boy.	false
+c8c89a6fae614ab7edc14e50320522c1ddc71470	Occasionally, a renal mass may be malignant and correspond to congenital mesoblastic nephroma, @DISEASE$, or fetal @PHENOTYPICFEATURE$.	false
+778adba137fe75096196200378c6282ae9924ab7	This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and @PHENOTYPICFEATURE$ and eventually @DISEASE$.	false
+5a12d18397e714862368f62906650067ba9b0515	Simultaneous occurrence of congenital aniridia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+740e07fcb7e04c17352f9d04790fac5687055b95	BACKGROUND @DISEASE$ is an uncommon disease characterized by severe growth retardation, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+a049b52718b4cb06c2ec74c0f229e28cc41dd87f	@DISEASE$ is a rare autosomal recessive disorder that causes short stature, unusual facial features and @PHENOTYPICFEATURE$.	false
+f43215039447020aa585d03098b5b5f559669e7d	@DISEASE$ (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pre- and post-natal growth restriction, associated with minor @PHENOTYPICFEATURE$ and dysmorphisms.	false
+993c9462b88f583c359a0de2191ec45f3c9b9b37	The CCDC8 gene is mutated in @DISEASE$, a short-stature disorder with additional facial and @PHENOTYPICFEATURE$.	false
+ef70262b46b44a576a61be3789cfd42f8f15950e	An adolescent with 48,XXYY syndrome with @PHENOTYPICFEATURE$, @DISEASE$ and renal malformations.	false
+f9175da12e371f5efe91f57ae9cd5ade04fc6bd5	@PHENOTYPICFEATURE$ during childhood may be associated with academic underachievement and development of comorbidities such as @DISEASE$, learning disability, and mood disorders.	false
+11888749d0ee111c30b54aeddde044bf0a612b25	Background Resistance to thyroid hormone (RTH) commonly presents with goiter, @DISEASE$ (ADHD), @PHENOTYPICFEATURE$ and tachycardia.	false
+f190f916e4eca03d1d4bf3d358e60f6dc8cb39e0	This patient presented with @PHENOTYPICFEATURE$, @DISEASE$, and renal malformatons.	false
+b9ca07dc209a57abbed3cce470cd339e4a71cbe5	It is a report of the case of a 7-year-old boy with @DISEASE$ (ADHD), who developed bilateral @PHENOTYPICFEATURE$ when taking methylphenidate (MPH).	false
+394aaac9f20d859ea12c50a51997f834a21980f3	The authors conducted a literature review collecting published articles on @DISEASE$ and its relationship with @PHENOTYPICFEATURE$.	false
+175684eeb1bfe6a37369ae67ac42bc3e854be54d	The evidence in relation to @DISEASE$ (ADHD) is, however, nonexistent for @PHENOTYPICFEATURE$ and limited for infections.	false
+ae24d03aa868841711c32b252a417430446d2eae	The patients all have ID and share other clinical characteristics including @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic facial features, and Wormian bones.	false
+9c7e8ea4ea10a6a23a8eddc42a592b1f05dbf5fa	The patients all have ID and share other clinical characteristics including @DISEASE$, short stature, @PHENOTYPICFEATURE$, and Wormian bones.	false
+1d99c8b94cd4bfd2fd38ea541405c1497fd5d40d	causes a "partial Jacobsen syndrome phenotype" including congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability, and @DISEASE$.	false
+9117c90537b7da88290994ce02e07ca806d70a14	An 18-year-old female presented with @PHENOTYPICFEATURE$, obesity, developmental delay, speech delay, dyslexia, @DISEASE$, and intellectual disability.	false
+33a6c67959aaadd748e07dfb2d344a602942949b	We report on a 10-year-old girl with anhidrosis and insensibility to pain, but no @PHENOTYPICFEATURE$ or self-mutilation, diagnosed as @DISEASE$ (HSAN IV).	false
+9502ecc58576c3829d365722623cf7ec51d768bb	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and self-mutilation-related complications.	false
+1df2a4d006f310a2e824ca5a81f6389394511e60	In addition to the clinical features characteristic of trisomy @DISEASE$, the patient had Truncus arteriosus type A2, bilateral hydronephrosis, @PHENOTYPICFEATURE$, retrognathia, and laryngeal hypotonia, which are likely to be attributed to 22q11.2 deletion.	false
+834f870171fb27bd11e39b057f770ec47f414117	@PHENOTYPICFEATURE$ in @DISEASE$ can progress quickly unless the previously stable condition.	false
+4440cdd997a7a5207c6951c32db443529d8ac5dc	However, the features of @PHENOTYPICFEATURE$ in patients with an initial diagnosis of @DISEASE$ (EDMD) are poorly known.	false
+656d49fe61d5a59b813377e9e40dd41b6eb47868	However, the features of @PHENOTYPICFEATURE$ in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (@DISEASE$) are poorly known.	false
+b3376ba21835987dc0818140eb4e373335280fb6	@DISEASE$ (EDMD) is a distinctive form of muscular dystrophy which is often associated with @PHENOTYPICFEATURE$.	false
+e384d431809b23b8f51d4a23469ca69288e98138	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a distinctive form of muscular dystrophy which is often associated with @PHENOTYPICFEATURE$.	false
+61611368a9e3d8f5dcbd0eedf61180d5b51e519d	transient are possible therapeutic targets in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5290158c65c9bf9d9d0339b546dd594ddfc5d049	In conclusion, the present study identified three patients with @DISEASE$, exhibiting the same dominant LMNA mutation and presenting with a spectrum of severe @PHENOTYPICFEATURE$, including cardiac conduction system defects, cardiomyopathy and heart failure.	false
+4f1259d85c06addf2494f57b8dfd71653c80eafc	In conclusion, the present study identified three patients with @DISEASE$, exhibiting the same dominant LMNA mutation and presenting with a spectrum of severe cardiac abnormalities, including cardiac conduction system defects, cardiomyopathy and @PHENOTYPICFEATURE$.	false
+9182141a001346fa6124548ccd01b036d732035e	Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and @PHENOTYPICFEATURE$ in @DISEASE$: a long-term longitudinal study.	false
+71c949d21995b30e3626d7a3263c42e15899214a	Rather than the cardiac arrhythmias typical of @DISEASE$, a dilated cardiomyopathy may occur and present with severe @PHENOTYPICFEATURE$.	false
+47bd8f186091fb24ff0890e33bdca6fa665a0ce1	To report a sudden death in a female carrier of @DISEASE$ and to describe the @PHENOTYPICFEATURE$ associated with this disease.	false
+a83dfc5113d6b2e29fa6b2e6be96e22ade5a7985	@DISEASE$ (EDMD) is a late onset-disease characterized by skeletal muscle wasting and @PHENOTYPICFEATURE$ with associated risk of sudden death.	false
+cd35c375566e5aad818db8cbc6ba0e31eadde6cd	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a late onset-disease characterized by skeletal muscle wasting and @PHENOTYPICFEATURE$ with associated risk of sudden death.	false
+0fbf1014738dc8ec63a1e03af92548f50e66d9ed	@DISEASE$ (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and @PHENOTYPICFEATURE$ with conduction defects.	false
+2f3e8f49c6f80e524786aaf1ff1b1c793901426e	Emery-Dreifuss muscular dystrophy (@DISEASE$), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and @PHENOTYPICFEATURE$ with conduction defects.	false
+60304fd1b39ce4128b21944637269ae7a67eb624	Twelve other cases in CP and 9 reference cases showed some abnormal sleep EEG patterns as follows: (i) in CP cases absence of EEG patterns characteristic of wakefulness, NREM sleep and REM sleep without spindles (n = 3); porencephaly with @PHENOTYPICFEATURE$ (n = 1) and cytomegalovirus infection (n = 2), no characteristic EEG patterns of stages 1-4 without spindles (n = 2); cardiac arrest (n = 1) and agenesis of corpus callosum with lissencephaly (n = 1), absence of REM sleep (n = 1); kernicterus, spindles with an extremely low incidence (n = 5); perinatal anoxia (n = 2), kernicterus (n = 1), @DISEASE$ (n = 1) and cerebral palsy due to unknown etiologies (n = 1), and extreme spindles (n = 1); cerebral palsy due to unknown etiologies, (ii) in reference cases no spindles (n = 2), spindles with an extremely low incidence (n = 6), and extreme spindles (n = 1).	false
+8ff86c61e1bb6b9bbd10c36398be4767fe5ea200	-channel is associated with @DISEASE$ (LQT2) and increased risk of @PHENOTYPICFEATURE$.	false
+3ab6cdbc17511042be4ad9b8bbbde3c9a5eabce4	Defective functional PM expression of the human ether-a-go-go-related gene (hERG) K(+) channel leads to the prolongation of the ventricular action potential that causes @DISEASE$ (LQT2), with increased propensity for @PHENOTYPICFEATURE$ and sudden cardiac arrest.	false
+91376a119c0cff9a6432a6a36cc3875fa4939d91	Persistent developmental stuttering (@DISEASE$) is a @PHENOTYPICFEATURE$ that impairs communication skills.	false
+ddc2abb65c64202d33acfd4616e20003ca5642d3	It was shown that during the development of @PHENOTYPICFEATURE$ activity in an isolated cortical slab its neurons generate EPSP and paroxysmal depolarizing shifts (@DISEASE$) of the membrane potential (MP) accompanied by refractory periods.	false
+5b64a253867bbf9eaca4f09589fd3d26c6d6799f	Exposure to MMR is unlikely to be associated with Crohn's disease, @DISEASE$, @PHENOTYPICFEATURE$ or aseptic meningitis (mumps Jeryl-Lynn strain-containing MMR).	false
+ffca6976c00278f9ff907d49471e080c8bd951ef	For the vast and microbially dynamic gastrointestinal compartment, several disorders are considered, including obesity, atherosclerosis, Crohn's disease, @DISEASE$, drug toxicity, and even @PHENOTYPICFEATURE$.	false
+1424839c441ee532d067b52a8bd183d7821e6764	The impact of FMT on host microbial communities and subsequent disease states has also been explored in recent years for conditions as varied as inflammatory bowel disease especially @DISEASE$, metabolic diseases, such as diabetes, graft-versus-host disease in hematopoietic stem cell transplant recipients, and @PHENOTYPICFEATURE$ and autism spectrum disorders.	false
+ab0040aa9d96c20fe526ff9c27a694dc462a7a7f	The impact of FMT on host microbial communities and subsequent disease states has also been explored in recent years for conditions as varied as inflammatory bowel disease especially @DISEASE$, metabolic diseases, such as diabetes, graft-versus-host disease in hematopoietic stem cell transplant recipients, and autism and @PHENOTYPICFEATURE$ spectrum disorders.	false
+806736d643be06ae7a3a043e2bdf454efcc805d7	The sequences obtained from the patients with @DISEASE$ and children with @PHENOTYPICFEATURE$ were consistent with being vaccine strains.	false
+3acd089e879f390dadbbfae13fca7fdb67cfa4cd	In three patients, the tumor was associated with @DISEASE$; in one of these patients, @PHENOTYPICFEATURE$ was present.	false
+c1a0f749ccfdcd97c05e240b96b2d79fc0e81a25	A 44-year-old women developed marked @PHENOTYPICFEATURE$ one year earlier, when she was treated with intravenous prednisolone for acute severe exacerbation of @DISEASE$.	false
+3d89b10b20f9b0298e6e134e3ba7eca2a1fd6361	Some studies also proved that dietary supplement with fish benefited for treating many inflammatory - associated conditions, such as cardiovascular disease, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+06800fa4eb42af7ca64104a413e9095b11e37982	The onset of @DISEASE$ is characterized by diarrhea and bleeding, while granulomatous ileocolitis may be similar or more obscure with abdominal pain, bowel obstruction, loss of weight, iritis, arthritis or @PHENOTYPICFEATURE$.	false
+76069b7bda5e97a5e9b6b2fe584cb7af8e52dba8	One of eight patients with Crohn disease, one of three patients with @DISEASE$, and three of nine children with @PHENOTYPICFEATURE$, were positive.	false
+c9c6b8f52c680de96244fed3401f2db5fa95fbe7	Its application in treating Clostridium difficile infection is discussed and possible applications to other diseases such as @DISEASE$, obesity, necrotising enterocolitis, and regressive-type @PHENOTYPICFEATURE$ are reviewed.	false
+8a05a0e0fe2bac15f1eebed7efd88fd4b82990e2	Previous studies identified an independent relationship between red blood cell distribution width (RDW) and prognosis in patients with pulmonary @PHENOTYPICFEATURE$ of mixed etiologies and @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+fe0a14913689597b87548825aa70e29d8efbacb3	They exhibited multiple congenital anomalies, including @DISEASE$, cleft palate, fusion of the ribs, @PHENOTYPICFEATURE$, distal colon aganglionosis, abnormal migration and axonal projections of sympathetic neurons, and germ cell depletion, many of which are similar to abnormalities found in humans with CdLS.	false
+9144241fd5cc7cb88c77622e21e2aa3e4b0ffe82	There was a striking similarity in the defects produced by these agents, mainly hydronephrosis, @DISEASE$, and @PHENOTYPICFEATURE$ and tails.	false
+546454ae48c5f7742edfe2185deca97ea0eb2b65	We report on a female infant with mucometrocolpos, postaxial polydactyly, @DISEASE$, short @PHENOTYPICFEATURE$ ribs, and chest constriction.	false
+12b69d02e2b52e247c7ce0f468312a8153deaa7e	Variable features include @DISEASE$, @PHENOTYPICFEATURE$ and epilepsy.	false
+6a5d610f0ab1a3f73df1b67f4cdbe5eb38d3fea8	Assessing the neurodevelopmental @PHENOTYPICFEATURE$ of infants with @DISEASE$ before surgery provides a means of identifying those at heightened risk of developmental delay.	false
+d7032e85adc590725a836548a561b1e4c5621edb	Ellis-van Creveld (EvC) syndrome is a human autosomal recessive disorder caused by a mutation in either the EVC or EVC2 gene, and presents with @PHENOTYPICFEATURE$, polydactyly, and ectodermal and @DISEASE$.	false
+dd8ffb9cc8dec385603bc3fad1a427669fbf0c83	The proband was a 2.5 year-old girl with @PHENOTYPICFEATURE$, microcephaly, neurodevelopmental delay, @DISEASE$ and dysmorphic features.	false
+9a270015eebf75ffc8841512fade1a151e0f84ca	Prenatal detection of @DISEASE$ and renal abnormalities, in combination with certain additional findings (most notably, female external genitalia in the presence of a 46,XY karyotype, polydactyly, disproportionately @PHENOTYPICFEATURE$, or intrauterine growth retardation) and a normal karyotype, suggests the diagnosis of SLOS-II, and warrants further investigation.	false
+af64a0c5edb5ec07691df56d08e81fec362525a9	Characteristic features are @PHENOTYPICFEATURE$, dysmorphic face, and @DISEASE$.	false
+3b7090b4fa9440b8aad04b2db60d25bffd5ac4dd	The overall accuracy of the Rinne and Weber tuning fork tests in predicting @PHENOTYPICFEATURE$ associated with @DISEASE$ in children is poor.	false
+8b9cde39557355af332e5af239c98544777ebcf1	The update group made strong recommendations that clinicians (1) should document the presence of middle ear effusion with pneumatic otoscopy when diagnosing OME in a child; (2) should perform pneumatic otoscopy to assess for OME in a child with otalgia, hearing loss, or both; (3) should obtain tympanometry in children with suspected OME for whom the diagnosis is uncertain after performing (or attempting) pneumatic otoscopy; (4) should manage the child with OME who is not at risk with watchful waiting for 3 months from the date of effusion onset (if known) or 3 months from the date of diagnosis (if onset is unknown); (5) should recommend against using intranasal or systemic steroids for treating OME; (6) should recommend against using systemic antibiotics for treating OME; and (7) should recommend against using antihistamines, decongestants, or both for treating OME.The update group made recommendations that clinicians (1) should document in the medical record counseling of parents of infants with @DISEASE$ who fail a newborn screening regarding the importance of follow-up to ensure that hearing is normal when OME resolves and to exclude an underlying @PHENOTYPICFEATURE$; (2) should determine if a child with OME is at increased risk for speech, language, or learning problems from middle ear effusion because of baseline sensory, physical, cognitive, or behavioral factors; (3) should evaluate at-risk children for OME at the time of diagnosis of an at-risk condition and at 12 to 18 months of age (if diagnosed as being at risk prior to this time); (4) should not routinely screen children for OME who are not at risk and do not have symptoms that may be attributable to OME, such as hearing difficulties, balance (vestibular) problems, poor school performance, behavioral problems, or ear discomfort; (5) should educate children with OME and their families regarding the natural history of OME, need for follow-up, and the possible sequelae; (6) should obtain an age-appropriate hearing test if OME persists for 3 months or longer OR for OME of any duration in an at-risk child; (7) should counsel families of children with bilateral OME and documented hearing loss about the potential impact on speech and language development; (8) should reevaluate, at 3- to 6-month intervals, children with chronic OME until the effusion is no longer present, significant hearing loss is identified, or structural abnormalities of the eardrum or middle ear are suspected; (9) should recommend tympanostomy tubes when surgery is performed for OME in a child <4 years old; adenoidectomy should not be performed unless a distinct indication exists (nasal obstruction, chronic adenoiditis); (10) should recommend tympanostomy tubes, adenoidectomy, or both when surgery is performed for OME in a child ?4 years old; and (11) should document resolution of OME, improved hearing, or improved quality of life when managing a child with OME.	false
+8e9527a661817e6a06c0bd4e20d3bbfa7a74597d	Two young children with salt-losing @DISEASE$ developed profound @PHENOTYPICFEATURE$.	false
+b1d463eae2b3f1409277c4d3e0588e177ba837dd	We investigated seizures in 22 children with @DISEASE$ (CAH), eight of whom had seizures associated with @PHENOTYPICFEATURE$.	false
+d0a77b975621074a75f3ed94deec012ed9c43063	We investigated seizures in 22 children with congenital adrenal hyperplasia (@DISEASE$), eight of whom had seizures associated with @PHENOTYPICFEATURE$.	false
+365d7931b13b5fc699f2b996a7c972adf24e101b	@DISEASE$ with associated episodes of @PHENOTYPICFEATURE$.	false
+bb436b7d0461db5db924c704e21910ee013b14ac	In children younger than 2yr, @PHENOTYPICFEATURE$, dehydration and convulsions are frequently observed and in young girls, virilization is suspect of @DISEASE$ .	false
+be79c492cf89a71926f9a50f568d98447587f5df	We report the first case of maternal uniparental disomy for chromosome 6 (UPD6mat) ascertained through @DISEASE$ (CAH), which arose because of reduction to homozygosity of an autosomal recessive @PHENOTYPICFEATURE$.	false
+34b81a16a0276bdc578fdbefd3a833af017ab5d9	We report the first case of maternal uniparental disomy for chromosome 6 (UPD6mat) ascertained through congenital adrenal hyperplasia (@DISEASE$), which arose because of reduction to homozygosity of an autosomal recessive @PHENOTYPICFEATURE$.	false
+bc71d4d8e1b6953a2fee8e79b7f2c14b6d5256b5	Its measurement is also used in the investigation of adrenal incidentaloma, adrenal carcinoma, Addison's disease, @DISEASE$, @PHENOTYPICFEATURE$, and renal tubular channelopathies.	false
+2f439bad5cac11cf44c6dc53ccac4b44d50c89ea	@PHENOTYPICFEATURE$ during illness in children with @DISEASE$.	false
+122587325f7ec2659c693e44fd99969b47c561f2	In 65 informative meioses of @DISEASE$ families, no de novo @PHENOTYPICFEATURE$ was found.	false
+2f439bad5cac11cf44c6dc53ccac4b44d50c89ea	@PHENOTYPICFEATURE$ during illness in children with @DISEASE$.	false
+99c241076e407ce199b54c6d675b1c20f47528c2	Fetal @PHENOTYPICFEATURE$, like @DISEASE$, are the most common causes of female pseudohermaphroditism, however there is a low incidence of gestational hyperandrogenism caused by maternal pathology.	false
+9382ec16d8847d2f0025e3bf8112e188c81d6dad	Genetic hyperferritinemia is associated with iron overload, @DISEASE$, or @PHENOTYPICFEATURE$ that progress without iron overload (hereditary hyperferritinemia-cataract syndrome).	false
+f34e87f9cff58ea6005631a1ecc5579c53cd2f2d	An ultrasound examination at 26 weeks of gestation revealed multiple malformations of the presenting twin: the combination of an occipital encephalomeningocele, bilateral @PHENOTYPICFEATURE$ and postaxial polydactyly was suggestive of Meckel-Gr?@DISEASE$.	false
+0309311bba9c35a08d5a0f0e3a2348f23b785aa3	@DISEASE$ most often includes: corporal hemi-hypertrophia, gigantism of the extremities with hyperplasia of the palms and soles, @PHENOTYPICFEATURE$ and varied types of other hamartomatous tumours.	false
+9f29adb3590aa4630f5ee1de4c2320a765c7ac42	@DISEASE$ and unilateral congenital windblown @PHENOTYPICFEATURE$.	false
+2c737d1c278c917cfc4159b1ee19dd19f59c1507	However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third @PHENOTYPICFEATURE$ and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal @DISEASE$.	false
+8bdfd8caa74c93e9fc817e62861a84c0f4542ff2	@DISEASE$ and @PHENOTYPICFEATURE$: a case report.	false
+e70c6d422ff6685d0b82a4c04cc069f05001de9d	@DISEASE$ and @PHENOTYPICFEATURE$: a case report and review of the literature.	false
+7672817e65c647eec2a5a836bf42cd7dbcbf46d8	Development of methemoglobinemia in the setting of chronic skin discoloration and @PHENOTYPICFEATURE$ should prompt consideration of @DISEASE$.	false
+871ae193f4728b18ea0aa7b06531e4f43925ea67	The possible existence of a common genetic factor in the development of both @PHENOTYPICFEATURE$ and @DISEASE$ is discussed.	false
+ba39990ad04ecd1d2493ae4d02772bbef2233537	Hemolysis: a fatal complication of @DISEASE$ in a severe @PHENOTYPICFEATURE$ patient.	false
+6809d7c556e995dd555233c94ec6be3005a6c471	We describe a 46-year-old man with alkaptonuria and diabetic @PHENOTYPICFEATURE$ whose plasma HGA concentration was twice that of any other @DISEASE$ patient, and whose ochronosis progressed much more rapidly than that of his two alkaptonuric siblings.	false
+2a8553f659e14b2cea1454fd8cf4abf234be502f	We describe a 46-year-old man with @DISEASE$ and diabetic @PHENOTYPICFEATURE$ whose plasma HGA concentration was twice that of any other alkaptonuria patient, and whose ochronosis progressed much more rapidly than that of his two alkaptonuric siblings.	false
+d10387c2672f43c0a04b8d3a3200a4b769ead7a4	This work also highlights the presence of certain clinical features in patients with @PHENOTYPICFEATURE$ and development delay and should draw attention to the diagnosis of @DISEASE$, when hirsutism, particularly hypertrichosis cubiti is present.	false
+a81b94441698cec9b92000285fa77ae2cb0bd1c5	We also examined a separate collection of 11 cases presenting with @PHENOTYPICFEATURE$ and dystonia, two constituents of @DISEASE$, but found no pathogenic changes.	false
+f1c994f69634d8a4a24f874e699a4efcdd96b36f	Woodhouse-Sakati Syndrome (@DISEASE$) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+25cbb3b22be601fac8b86dcf23fc6f8fdf7b3af7	The @DISEASE$ phenotype evolves during early childhood and includes a generalized and excessive skin wrinkling, dental problems, herniae, foot deformities, hip dislocations, @PHENOTYPICFEATURE$, and a large anterior fontanelle.	false
+3e4fe4a88bb52d200c914c79f3864083688b60e0	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects.	false
+384b251d5000363470f3a26a1e6043af1118a822	Wiedemann-Steiner syndrome (@DISEASE$) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay.	false
+165b42f604b25a79f332b9a71e449b49440a67af	This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of @DISEASE$ such as @PHENOTYPICFEATURE$ and dystonia.	false
+9e5d7679db5197ce84dd7fa71e6e94fc0439e543	This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of @DISEASE$, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as @PHENOTYPICFEATURE$ and dystonia.	false
+9298d7dbab446bc389d6322116599626ce5d949d	Woodhouse Sakati syndrome (@DISEASE$, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, @PHENOTYPICFEATURE$, diabetes mellitus, learning disabilities and extrapydamidal manifestations.	false
+68de143f2b0d63998695b3988e3b0cf392577770	Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, @DISEASE$, @PHENOTYPICFEATURE$ and myasthenia.	false
+32b4fc5badd6a07e4d7b97d0006ae02d22d60ec0	Mutations in the progranulin gene (GRN) are a common cause of genetic @DISEASE$, causing either a behavioural presentation or, less commonly, @PHENOTYPICFEATURE$.	false
+a6a24cef1269ceaec103c92102c8a4a78648f8e4	Midline cerebral structural alterations reflect differential patterns of @PHENOTYPICFEATURE$ in AD and @DISEASE$, yielding morphometric indices that may facilitate the study of brain-behavior relationships and differential diagnosis of dementia.	false
+b9c57889cc31c74768c1bfdb86973c62df900c96	@DISEASE$ (FTLD) encompasses a spectrum of neurodegenerative disorders characterized by behavioral, executive and @PHENOTYPICFEATURE$, with a common overlap with parkinsonism and motor-neuron disease.	false
+7da506e6237f83059832be68040d80d07c8e27f8	The proband was a woman with clinical and neuroimaging features of atypical @DISEASE$ and @PHENOTYPICFEATURE$.	false
+681ec44d867cdc3ca45c7bc3227045f7ce5bbc70	Frontotemporal dementia (@DISEASE$) is clinically characterized by behavioral changes, @PHENOTYPICFEATURE$, and executive dysfunction.	false
+7cbbc71839ca44f5d9b7df310a891948126ee931	@DISEASE$ (FTD) is clinically characterized by behavioral changes, @PHENOTYPICFEATURE$, and executive dysfunction.	false
+be2dc6391b209685391ae62f78540263596a7311	@DISEASE$ (FTLD) refers to a focal, non-Alzheimer form of @PHENOTYPICFEATURE$ that encompasses the distinct clinical syndromes of frontotemporal dementia (FTD), progressive non-fluent aphasia (PNFA) and semantic dementia.	false
+68d214424c2e917f03da2f0180f60dbe0448d021	Frontotemporal lobar degeneration (FTLD) refers to a focal, non-Alzheimer form of @PHENOTYPICFEATURE$ that encompasses the distinct clinical syndromes of frontotemporal dementia (@DISEASE$), progressive non-fluent aphasia (PNFA) and semantic dementia.	false
+bef6f08322d017f9ccb63f63c238c593a70f6ede	Interestingly, C9ORF72 patients do not present with classic cerebellar symptoms, such as @PHENOTYPICFEATURE$, but have instead a higher incidence of psychiatric changes compared to sporadic @DISEASE$.	false
+eb2c8608b97f87f0b14280aa6ec5b815fb84e40f	@DISEASE$ (FTLD) comprises a highly heterogeneous group of disorders clinically associated with behavioral and personality changes, @PHENOTYPICFEATURE$, and deficits in executive functioning, and pathologically associated with degeneration of frontal and temporal lobes.	false
+a578cba4120105a95ecad1669cf9a712e54167de	Frontotemporal dementia (@DISEASE$) is a genetically and pathologically heterogeneous disorder characterized by personality changes, @PHENOTYPICFEATURE$, and deficits of executive functions associated with frontal and temporal lobe degeneration.	false
+b3a344d437e7640d2674945e5700d4682c9c4db4	@DISEASE$ (FTD) is a genetically and pathologically heterogeneous disorder characterized by personality changes, @PHENOTYPICFEATURE$, and deficits of executive functions associated with frontal and temporal lobe degeneration.	false
+1ba6b71a87cda60dc3712c0d60d0f8869bdca4f7	@DISEASE$ (FTD) is characterized by behavioural and @PHENOTYPICFEATURE$, accompanied by atrophic changes in fronto-temporo-insular cortices.	false
+20fab1a84101696bf057f68e642ea93e82666360	Frontotemporal dementia (@DISEASE$) is characterized by behavioural and @PHENOTYPICFEATURE$, accompanied by atrophic changes in fronto-temporo-insular cortices.	false
+c42d80793f3aae3adb56ca018dd30eeea8299bc3	Primary vitreolenticular interface abnormalities are often encountered during pediatric @PHENOTYPICFEATURE$ surgeries, especially when confronted with @DISEASE$ in a unilateral cataract.	false
+5d8c705816f4ee65dd19a19556495bc716631af8	Primary vitreolenticular interface abnormalities are often encountered during pediatric cataract surgeries, especially when confronted with @DISEASE$ in a unilateral @PHENOTYPICFEATURE$.	false
+732fc24c98a11b593d4490d0864b4a51f36428fa	The boy presented with shock, @DISEASE$ (PJP), disseminated tuberculosis, Herpes Simplex Type 1 (HSV-1) infection, @PHENOTYPICFEATURE$, malnutrition and oral candidiasis.	false
+033d6188f4272f2ecaa3ea972ba440e1418c0e76	In pediatric @PHENOTYPICFEATURE$ cases presenting with @DISEASE$ and anterior vitreolenticular interface dysgenesis, the primary PCCC procedure was surgically more demanding, often resulting in detectable breaks in the anterior hyaloid membrane (58.6%)	false
+b4a8166fdd748ae86c2a04989470bfd0f1343911	In addition to occurring in children with @PHENOTYPICFEATURE$, Bazex syndrome, basal cell carcinoma nevus syndrome, nevus sebaceus, radiotherapy-treated cancers, solid organ transplants, and @DISEASE$, childhood onset basal cell carcinoma has also occurred, albeit less commonly, de novo.	false
+c0b012b3c146cd240f760d56f37237180066cd28	Her skin was freckled, with @PHENOTYPICFEATURE$ and hyperpigmented areas (poikilodermia) typical of @DISEASE$.	false
+5d4ac8f407ba3f22539889d32d4fc21d72c3148f	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) malignant peripheral nerve sheath tumors, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) @DISEASE$, 1/3 (33%) @PHENOTYPICFEATURE$, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) Ewing sarcoma showed PD-L1 expression.	false
+c7e94ac3d9bb8350787ae338d0774f67cabb3277	All three diseases cause acute onset of neurological symptoms, but the predominant neurological manifestations differ with particularly early onset of hemiplegic/dystonic episodes and mental decline in @DISEASE$, ataxic @PHENOTYPICFEATURE$ and impairment of vision and hearing in CAPOS syndrome and late onset of dystonia/parkinsonism in RDP.	false
+a34bacf570b3d0d38212ae5a7b5ebc27c2b0e53e	The authors evaluated the skin and muscle biopsies from patients with @DISEASE$ for @PHENOTYPICFEATURE$.	false
+5d55208ed4cf5666908598497fb700275dd0e831	@DISEASE$, progressive muscular dystrophy, and @PHENOTYPICFEATURE$, in association with glycerol kinase deficiency, in male sibs.	false
+bd450e3c6ba8814d4faa23edaea78095a5de57d6	We examined the response of @PHENOTYPICFEATURE$ cells to treatment with extracellular sphingomyelinase or co-incubation with wild-type and @DISEASE$-deficient platelets.	false
+ea89ce568c42498d2b800e3b81a0d63c848a67df	Recent studies have identified acid sphingomyelinase (@DISEASE$), a central enzyme in the sphingolipid metabolism, as a regulator of several types of stress stimuli pathways and an important player in the @PHENOTYPICFEATURE$ microenvironment.	false
+1d78bca3bf8c5a5e50eda4bd1d0a16a0aeaf8ca9	Clustering of integrins by applying purified Asm or C16 ceramide to B16F10 melanoma cells before intravenous injection restored trapping of @PHENOTYPICFEATURE$ cells in the lung in @DISEASE$-deficient mice.	false
+c03d90034cf240f6ccafa447af6b232e66a97e8b	Cytokines such as interleukin-13 and @PHENOTYPICFEATURE$ necrosis factor-? promote a more contractile @DISEASE$ phenotype.	false
+4dec1b2e82254d839c4722ec2a44bb1cfea45df7	The in vivo effect of @DISEASE$ was likely due to enhanced cell death of the @PHENOTYPICFEATURE$ cells themselves, as well as the surrounding microvascular endothelial cells.	false
+23097b1ff9be18c50518630293306ca552326e4e	Likewise, @DISEASE$-deficient mice were protected from hematogenous MT/ret melanoma metastasis to the spleen in a mouse model of spontaneous @PHENOTYPICFEATURE$ metastasis.	false
+ed820a5872012af9166347c65c657222b6113177	In this study, an automatic three-level AdaBoost-guided active shape model (@DISEASE$) is proposed for the segmentation of the liver based on enhanced computed tomography images in a robust and fast manner, with an emphasis on the detection of @PHENOTYPICFEATURE$.	false
+06d11d40d70a165005c20eb0bdbeaa013039c9c2	Exosomes high in @DISEASE$ content were able to transfer the drug-resistant phenotype to chemosensitive cells, hereby suggesting a @PHENOTYPICFEATURE$-protective role for ASM.	false
+988439acf9a63c377eeb066dddf0b9cd4a1ba2ea	Treatment of ASM-overexpressing cells with @PHENOTYPICFEATURE$ necrosis factor ? induced secretion of @DISEASE$, and the secretion rate was highest for the most common ASM variant encoding 6 repeats compared to other naturally occurring variants.	false
+4f979691b3f1a535042176aec6724626096b6f98	Moreover, ponatinib was highly active against xenografted D816V KIT @PHENOTYPICFEATURE$ in nude mice and significantly prolonged the survival of mice with @DISEASE$ or mast cell leukemia by impeding the expansion and infiltration of mast cells with imatinib-resistant D814Y KIT.	false
+01eae15fab6ee7f6ef20566e8e9fc6385371d0c6	Due to the location of the @PHENOTYPICFEATURE$, the patient underwent resection of the auditory responsive precentral area which resulted in the post-operative expression of a characteristic articulatory disturbance known as apraxia of speech (@DISEASE$).	false
+8e14f457e24d596010427507d3f7433e9c2d7a43	We report a 7-year-old girl with @DISEASE$ who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and @PHENOTYPICFEATURE$ in addition to the classical scalp and limb defects.	false
+f79fcf92ba79bfd83fb02cd733e82d314bc676ca	Potential for @DISEASE$ @PHENOTYPICFEATURE$ protection was studied by thoracic irradiation of mice with Lewis lung carcinoma.	false
+fd96d467cd4d34675e6b7b3b06ea400a4025d07a	We report an infant with @DISEASE$ associated with @PHENOTYPICFEATURE$ in whom no evidence of intrauterine infection could be demonstrated.	false
+ca1666ec50b467c9c3e7d454e0da7d94b083e57f	To describe @PHENOTYPICFEATURE$ in a family composed by a father and two affected sibs with Adams Oliver syndrome (@DISEASE$) (OMIM 100300).	false
+90771d3a7b8aaa4b50e2491aab1b9672e8d677c2	To describe @PHENOTYPICFEATURE$ in a family composed by a father and two affected sibs with @DISEASE$ (AOS) (OMIM 100300).	false
+60d83b7ca52d22ff47d0f8dce6e81497ed6ae969	MRI of the brain in one of the studied cases revealed retrocerebellar cyst and mild asymmetrical @PHENOTYPICFEATURE$, which to our knowledge, were not previously reported in @DISEASE$.	false
+074e7b35bb08a43ded0e00a257efc5957bea3ea2	@DISEASE$: Description of a new phenotype with @PHENOTYPICFEATURE$ in a family.	false
+2ac7bc92f1f318ff4106c4af518255484c8d5163	Histological examination of the tissues did not provide any evidence of toxicity or @PHENOTYPICFEATURE$ induction that could be attributable to treatment with @DISEASE$.	false
+15442bafd23342a951d7abf00a5873861d1bf26b	@DISEASE$ @PHENOTYPICFEATURE$ with necrosis are to be considered WHO grade IV tumors (GBM).	false
+f1d4675ce3f6ae3cb1ba2f79a7960ed18e4169f1	@DISEASE$ tumors with necrosis are to be considered WHO grade IV @PHENOTYPICFEATURE$ (GBM).	false
+55c6808fe74f7164709d4b92121b45cc139d9857	We describe a mother and her 3 children with variable scalp defects and limb defects consistent with a diagnosis of @DISEASE$ also presenting with additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, and @PHENOTYPICFEATURE$.	false
+5caa8647f56df511bdc7790cfe58d84fe6000ecf	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+3a80ce19e13c8f0946139bb25c17f5ea736cf773	Additionally, we describe a de novo heterozygous @PHENOTYPICFEATURE$, affecting a critical catalytic residue in TREX1, that results in typical @DISEASE$.	false
+781bdf27aad6a1b0ba38dd8d667fc2173ecec17f	Complications, especially cytokine release syndrome (@DISEASE$) and CAR T?cell related @PHENOTYPICFEATURE$ syndrome (CRES), can be life threatening.	false
+9aadfd1a503fc5f46c8f726ed48428d5127955b9	Independently, caudal regression syndrome (@DISEASE$), @PHENOTYPICFEATURE$ (ACC) and partial lobar holoprosencephaly (HPE) have been reported in infants of diabetic mothers.	false
+e188ddc9748531728560a2b292bf11e1ea925c5f	We investigated the effect of chronic administration of fluoxetine "FLU" and imipramine "IMIP" on behavioral, metabolic and @PHENOTYPICFEATURE$ in diabetic and non-diabetic rats exposed to chronic restraint stress (@DISEASE$).	false
+1debb2af4dd9b4841deb56591e3c439195fcd641	Specific conditions included congenital syphilis, Rh hemolytic disease of the newborn, measles, Haemophilus influenzae type B @PHENOTYPICFEATURE$, congenital hypothyroidism, phenylketonuria, and @DISEASE$.	false
+c9a849551928a1839333586a08271b76be70be54	In this group with severe @DISEASE$, 13 patients had @PHENOTYPICFEATURE$, 12 required hemodialysis, and 11 were intubated.	false
+178fdf0b638a95766ab208b3feb23ffa29213b1c	@DISEASE$ was characterized by high fevers, @PHENOTYPICFEATURE$, hypotension, hypoxia, hepatic dysfunction, and evidence of coagulopathy, and resolved after infusion of the interleukin-6 inhibitor tocilizumab and corticosteroids.	false
+62fc268207a861506748412a03bd228fd551046c	Carisbamate (@DISEASE$) exhibits broad acute anticonvulsant activity in conventional anticonvulsant screens, genetic models of absence epilepsy and audiogenic seizures, and chronic spontaneous @PHENOTYPICFEATURE$ arising after chemoconvulsant-induced status epilepticus.	false
+068ee2ad1ca85f71ab8fed93df9211271173ddad	Autistic children commonly have hyperactivity and @PHENOTYPICFEATURE$, as do @DISEASE$ children.	false
+9e3793efda0c5a4c7cfb0c28327cce45ca4e297f	Cytokine release syndrome (@DISEASE$) and CAR-T-associated @PHENOTYPICFEATURE$ syndrome (neurotoxicity) are the most common adverse effects associated with CAR-T therapy.	false
+9fdcc39445c66263cca785781eee73e2e5a38a1c	Cytokine release syndrome (@DISEASE$) and neurotoxicities (CAR-related @PHENOTYPICFEATURE$ syndrome, CRES) are major adverse events limiting wide deployment of the CAR T cell treatment.	false
+ddf20b64880b15fedd3ad1338ac7fc506ed00cdd	Beside the facial dysmorphism and four main features of the @DISEASE$, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, @PHENOTYPICFEATURE$, and multiple polyps in the tongue.	false
+76a86a02088764d23fc336bf7e8b9ae2c927d742	The differential diagnosis for both @DISEASE$ and RP should include this rare molecular cause of autosomal @PHENOTYPICFEATURE$.	false
+0b4e4f4700eac918eceb6465c3a5154fd6392475	@PHENOTYPICFEATURE$ and ferropenia are frequent in children with @DISEASE$.	false
+8958f7db26d6b8905eb399e505db66c1b337c215	We did not observe the expected increases in plasma ghrelin levels associated with @PHENOTYPICFEATURE$, suggesting a mechanism by which subjects do not increase appetite with @DISEASE$.	false
+bf375b0f743b32bf5eeb2de53eda514d34a00129	In chronic renal disorder (@DISEASE$), anemia is a major subsequent symptom (renal @PHENOTYPICFEATURE$).	false
+ba2ea9ec16e556a109fd82e5376752c6291ce163	It was concluded, that @DISEASE$ as a model of visceral @PHENOTYPICFEATURE$, increases oxidative stress in animals, which could be prevented by prior administration of antioxidants; however, antioxidants did not attenuate signs of visceral pain caused by CRD.	false
+6e00478e49e35fc641be94c0a84be1555965d9b3	It was concluded, that CRD as a model of visceral @PHENOTYPICFEATURE$, increases oxidative stress in animals, which could be prevented by prior administration of antioxidants; however, antioxidants did not attenuate signs of visceral pain caused by @DISEASE$.	false
+ab9e283c5d1eb54700ef79b59c3b85aba6a75240	In order to improve growth in children with @DISEASE$ it is necessary to include: diet with optimal caloric intake, correction of fluid/ electrolyte imbalance, correction of acidosis, renal osteodistrophy and @PHENOTYPICFEATURE$.	false
+1128b1f40e945c1d011a5d3212b97d0ccaf9d514	Three more autosomal recessively inherited syndromes had @DISEASE$ (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and @PHENOTYPICFEATURE$ (without renal anomalies), and one further syndrome showed CRD and ectrodactyly (without cerebral defects).	false
+f616a3bf0ed4e807846dccb6ccf2536ec82a19f1	Three more autosomal recessively inherited syndromes had CRD (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and @PHENOTYPICFEATURE$ (without renal anomalies), and one further syndrome showed @DISEASE$ and ectrodactyly (without cerebral defects).	false
+3e16337dd4368746f27f65ffc8362417ec81b581	The precise cause of renal @PHENOTYPICFEATURE$ remains unclear, primarily owing to the lack of appropriate spontaneous animal models for @DISEASE$.	false
+0470e6dc31336c57a4db39e1014cf7ffada9801a	These observations confirm the analgesic activity of systemic clonidine on visceral @PHENOTYPICFEATURE$, support the translational value of the rat @DISEASE$ model to humans and show that manometry is more sensitive than electromyography detecting pain-related responses.	false
+4c1371d08fd661272d666d85abd7f815e9b22333	Cone-rod dystrophy (@DISEASE$) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous @PHENOTYPICFEATURE$.	false
+4cac4e496e3b56f5f5ec55bcb5e4cdc04e3411a8	[@PHENOTYPICFEATURE$ during lymphosarcoma and @DISEASE$].	false
+5d189feaa60b374e071e1fc6ebdd99a33c9cee49	She later developed @PHENOTYPICFEATURE$ nodules on her feet; results of a biopsy specimen revealed necrotizing extravascular granulomas and marked infiltration of the dermis with eosinophils consistent with a diagnosis of @DISEASE$.	false
+ece408d6dbca4e7ac0f0d0081bd05a27c58cc12b	We report the case of a patient with @DISEASE$ who developed @PHENOTYPICFEATURE$ and nephrotic syndrome while being treated with hydroxyurea and interferon-alpha.	false
+0a1bee4a9ef10eeb86ed5327cebb40b73b8a10dd	@PHENOTYPICFEATURE$ and recovery associated with second-generation Bcr-Abl kinase inhibitors in imatinib-resistant @DISEASE$.	false
+5ba6d51f78a461f719b1e84971018670b0b87d65	A 59-year-old woman, diagnosed with @DISEASE$ (chronic phase) and treated with interferon-alpha for 13 years, developed @PHENOTYPICFEATURE$.	false
+9e3c360594f70cb2593864f39075d2b397786048	[Graft vs. @PHENOTYPICFEATURE$ effect in @DISEASE$].	false
+a0c9ba0b09a47f6b272736bcf17b2273ee430bb5	[A case of @DISEASE$ with a parietal @PHENOTYPICFEATURE$].	false
+885ad146c50c72a1c91e579ee2e2b28f7f85329e	Bortezomib has little ex vivo activity in chronic myeloid leukemia: individual @PHENOTYPICFEATURE$ response testing comparative study in acute and @DISEASE$.	false
+7281f33fb952d6aae9b78aa67587150aeef53d90	Bortezomib has little ex vivo activity in @DISEASE$: individual @PHENOTYPICFEATURE$ response testing comparative study in acute and chronic myeloid leukemia.	false
+fb248c4bf1d4394fc62116e18a702816797d7117	We report a case of Candida @PHENOTYPICFEATURE$, which occurred in a patient with @DISEASE$ (CML) in blastic transformation.	false
+0600b9b4b78cce9199bb5b31ee47cfc7e9a639e1	Pathophysiologic observations in seven @DISEASE$ patients with @PHENOTYPICFEATURE$ formations.	false
+2522b54c0917bf53cb7746fc41b5d7d205d8d885	It's about time: lessons for solid @PHENOTYPICFEATURE$ from @DISEASE$ therapy.	false
+edc16a88e5d029231fb2ed18df208c354414c348	However, imatinib absorption is not significantly different in pediatric chronic myeloid leukemia or patients with gastrointestinal @PHENOTYPICFEATURE$ compared to adults with @DISEASE$.	false
+55aef17e51005e09c2fae48855b09a78970770f0	However, imatinib absorption is not significantly different in pediatric @DISEASE$ or patients with gastrointestinal @PHENOTYPICFEATURE$ compared to adults with chronic myeloid leukemia.	false
+5cfcefbcd2e2467b710488827b30407e5fd50f72	We report a 13-year-old girl with @DISEASE$ (LQTS) who developed a cluster of @PHENOTYPICFEATURE$ with post-ictal EEG abnormality.	false
+0dedaa30d2ecfa3c177ddefc15514ada86ae6db0	Volume overload leads to development of @DISEASE$ cardiac hypertrophy and @PHENOTYPICFEATURE$.	false
+57d583928082db69b9db4762085644e44d38109d	In addition, @PHENOTYPICFEATURE$ is associated with distinct cardiovascular hemodynamic alterations and development of @DISEASE$ myocardial hypertrophy.	false
+2ce1e343d1f8828a09bc2d54aa74da214c2c9ee9	Prevalence of @DISEASE$ hypertrophy in men increased with age, especially in the presence of hypertension and @PHENOTYPICFEATURE$.	false
+4ba6804db57403077b3dc19920a8f9ca52a7035d	The assessment of pressure-volume relationship during exercise stress echocardiography predicts left ventricular remodeling and @DISEASE$ hypertrophy in patients with @PHENOTYPICFEATURE$.	false
+3fdd6e3d853088dc105e3719672937ef8f5713cc	Ectopic expression of Cdk8 induces @DISEASE$ hypertrophy and @PHENOTYPICFEATURE$.	false
+9377d4e4bb0a0244078a75d22db4b07b2f8e0df4	The prevalence of @DISEASE$ hypertrophy in men increased with age, and with hypertension and @PHENOTYPICFEATURE$.	false
+bd0a72ea4c3c3f328faac468ddf2b7528998df1d	The @PHENOTYPICFEATURE$ was associated with @DISEASE$ myocardial hypertrophy.	false
+ca6ee2ca5794cc5f6ade22eca1577b2a9e8d1efb	To test if SB and LB dogs with CMVI and moderate @PHENOTYPICFEATURE$ have systolic dysfunction and if they have adequate @DISEASE$ hypertrophy.	false
+f1136795bc50fe575beb69a9c120ea98e72c29cf	Volume overload induces differential spatiotemporal regulation of myocardial soluble guanylyl cyclase in @DISEASE$ hypertrophy and @PHENOTYPICFEATURE$.	false
+0a1dca9bdba944215f67f1122cd733f095de0106	In women, the prevalence of @DISEASE$ hypertrophy and concentric remodelling was not related to age, hypertension or @PHENOTYPICFEATURE$.	false
+40c8f10142f1cf84f7048cf94bfcf2bcc7b6ee3f	@DISEASE$ (n.s.) is associated with numerous blood @PHENOTYPICFEATURE$ and a marked predisposition to thromboembolism.	false
+31d3a81aaf78fef562b659f4709057422984cd15	The @DISEASE$ is characterized by proteinuria, hypoalbuminemia and @PHENOTYPICFEATURE$.	false
+d8a5631cff3354ecc01056e9a8b1d24614643433	He presented with the @DISEASE$, pneumonia with bronchiectasis, and profound @PHENOTYPICFEATURE$.	false
+9992b0c8f95fe71fc1a031fd2d23d70c0b8cd04d	@DISEASE$ is associated with numerous blood @PHENOTYPICFEATURE$ and a marked propensity to thromboembolism.	false
+58a14a7a60ba541913e983059c7128d09baccfdc	@DISEASE$ (NS) is associated with numerous blood @PHENOTYPICFEATURE$ and a marked predisposition to thromboembolism.	false
+7f1b7b57507945f087942db0242c0a6daf8c7934	Clinical investigation disclosed severe intrahepatic cholestasis, @DISEASE$, erythrocytosis and @PHENOTYPICFEATURE$.	false
+eb794bb707024b51a79b698c02a7a2e6ec2cb2ef	@DISEASE$ (NS) associated with @PHENOTYPICFEATURE$ is not widely recognized or investigated as a cause of the NS.	false
+75f5bb1a5c96f69bfbd898956b9e928bd5ece467	Endovascular treatment of @PHENOTYPICFEATURE$ improves contralateral renal hypertrophy with @DISEASE$.	false
+15c2edd1a38fbde555e2851b322f912f4626b4b6	Proteinuria and @DISEASE$ induced by renin in patients with @PHENOTYPICFEATURE$.	false
+9cdcdb053ca2561516515e96b39d6c34a78641be	Moyamoya disease complicated with @PHENOTYPICFEATURE$ and @DISEASE$: reversal of nephrotic syndrome after nephrectomy.	false
+120b99b3c8ac3c115fa16d0b87c655cacf35cb4d	Among them, 29 eyes had early @DISEASE$ (drusen, hyperpigmentation, @PHENOTYPICFEATURE$), 5 had extrafoveal geographic atrophy, and 1 had exudative AMD.	false
+339196ac6ed50dac65d4b00b60ac3036366b77bc	Among them, 29 eyes had early AMD (drusen, hyperpigmentation, @PHENOTYPICFEATURE$), 5 had extrafoveal geographic atrophy, and 1 had exudative @DISEASE$.	false
+5f8c2d9ac1da5d7ac67325bb53431c24c410bc4b	All cases with BCVA less than 20/80 had ocular diseases like choroidal neovascularization @PHENOTYPICFEATURE$ or @DISEASE$, advanced glaucoma, or corneal opacity.	false
+7214fc38d086ac3a28e5d443ec43d1cb1a67d0d2	Sixteen patients had @DISEASE$ (AMD); 1 patient each had rod-cone dystrophy, oculocutaneous @PHENOTYPICFEATURE$, retinitis pigmentosa, or cerebrovascular accident.	false
+23dbb12f4451be70a9e741bcc17a68b9d474590c	Sixteen patients had age-related macular degeneration (@DISEASE$); 1 patient each had rod-cone dystrophy, oculocutaneous @PHENOTYPICFEATURE$, retinitis pigmentosa, or cerebrovascular accident.	false
+4498795187f62fb4b683322ebd04315ff3cc1fe1	However, knowledge about the relationship between @PHENOTYPICFEATURE$ and @DISEASE$ is still limited.	false
+026e24878317395ef578f819243e5ebf27bbd9e8	Changes in RPE pigmentation are seen with normal aging and in diseases such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+20d208da784783751cb81a686d74b9f54bcf9427	@DISEASE$ progression in patients is characterized by drusen, @PHENOTYPICFEATURE$, and geographic atrophy, which can be seen using fundus imagery.	false
+6495f0dd24d1a4b8d5aed2e6d60d9989d05c15fd	The commonest cause of low vision was retinitis pigmentosa (16.6%); 14.5% had age related macular degeneration (@DISEASE$); 9.8% had @PHENOTYPICFEATURE$; while only 1% had diabetic retinopathy.	false
+a3e751e0958fb6c9e01acf2ae942bef174c19b59	The commonest cause of low vision was retinitis pigmentosa (16.6%); 14.5% had @DISEASE$ (ARMD); 9.8% had @PHENOTYPICFEATURE$; while only 1% had diabetic retinopathy.	false
+55470355621631f648a17002d1fe13b3e98e800d	Eyes whose fellow eye had suffered from exudative AMD had more macular drusen and @PHENOTYPICFEATURE$ than eyes whose fellow eye had not suffered from exudative @DISEASE$.	false
+ed29381a733935dafcf6483337b4eb983f23260a	Eyes whose fellow eye had suffered from exudative @DISEASE$ had more macular drusen and @PHENOTYPICFEATURE$ than eyes whose fellow eye had not suffered from exudative AMD.	false
+fa19a9a95750fd8e75566075b1eed89a7f16213b	To determine the relation between alterations in the retinal topography and thickness, visual acuity, and retinal pigment epithelium @PHENOTYPICFEATURE$ in atrophic age related macular degeneration (@DISEASE$).	false
+f425471aad4c58dc1584d86872fe7dd5d77c7ab6	To determine the relation between alterations in the retinal topography and thickness, visual acuity, and retinal pigment epithelium @PHENOTYPICFEATURE$ in atrophic @DISEASE$ (AMD).	false
+4c1238b68ce3dd0b20e54dde5f853599718019c3	Analysis of OCT in discrepant cases showed better agreement with MC for all @DISEASE$ lesions, except hemorrhage and non-geographic atrophy @PHENOTYPICFEATURE$.	false
+7481a2ef5955d2c316197070f94f3b5bb624b53e	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), @PHENOTYPICFEATURE$ with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+f6b133fcc6db9db7bde7e12e349879b5716853ea	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with @PHENOTYPICFEATURE$ and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+068a95b3e4a2a6445f9a04a13d3d97b8c93e67e8	The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, @DISEASE$ (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, and in nonsyndromic X-linked mental retardation.	false
+ebf149e88524d6045fb0bfb324dbd38025861079	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, @DISEASE$ (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+8150a47280cc48c8fee6683a48b1df86b69917ff	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, @DISEASE$ (mental retardation, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+3502b35bb5c78d913b3f14fdbb56f441d574a8f6	@DISEASE$ is a congenital defect which can result in @PHENOTYPICFEATURE$.	false
+2aba9a6d86902873f1288bdc6f2f7d7d13bf127b	We report two patients with sagittal @DISEASE$, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia.	false
+996d0d4459f3a1a07a98764c1c5d516addb77cec	The patient showed @DISEASE$, radio-ulnar synostosis and @PHENOTYPICFEATURE$ and had previously been diagnosed with Antley-Bixler syndrome.	false
+7a294ee4bea27117b1ab96013929ad2874883fbe	Diffuse polymicrogyria associated with congenital hydrocephalus, @DISEASE$, severe mental retardation, and minor facial and @PHENOTYPICFEATURE$.	false
+9ee8482611990dd5aa0b20bae588042c439ff976	Activating mutations of FGFR3 also result in other forms of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+955631f8d7cd26c53c02edec89ccad7eeb1bf73b	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of @PHENOTYPICFEATURE$, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+c167264ffeb1cae44f43cd88ab5346483ff65545	In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and @DISEASE$ along with recognizable facial features and intellectual disability.	false
+4cff2743fa6fb00d387262fcab407dce0f537f1e	Activating FGFR3 germline mutations cause @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0514815e28d0a58f392663060ca7fd3faf4122fe	Patients frequently also have skeletal and connective tissue anomalies, @DISEASE$, congenital heart malformations, and @PHENOTYPICFEATURE$.	false
+d41ec84896d6a378594512b68977bd0027b41f3d	Ear infections, @PHENOTYPICFEATURE$, and hearing problems were more common in complex @DISEASE$ patients.	false
+d517c694ef11e27cedc32fa774e3cf130c516dad	In addition to the @DISEASE$ and joint ankylosis which are the clinical hallmarks of the condition, many patients, especially females, have @PHENOTYPICFEATURE$.	false
+993957a81a037f98207842f82ab1a3e37ab883c9	@DISEASE$, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, @PHENOTYPICFEATURE$, sensorineural deafness and retinal dysfunction.	false
+18e5b13a534f8ced6273da666a6b566361013b08	@DISEASE$ (ZS), the paradigm of human peroxisomal disorders, is characterised by neonatal hypotonia, severe neuro-developmental delay, hepatomegaly, @PHENOTYPICFEATURE$, senorineural deafness, retinal dysfunction, and facial dysmorphism.	false
+a9e4ec5d06e696e50173356d6220f142bf25089e	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, @PHENOTYPICFEATURE$ and skeletal anomalies in peroxysomal diseases (@DISEASE$), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+47ab68981a9821129bcf758737b4a27b303d36ea	Thus, TWA monitoring may be useful for ultra-short-term prediction of life-threatening @PHENOTYPICFEATURE$ risk upon emergent reperfusion in @DISEASE$ patients.	false
+73567a4b9b99b2e84e30714a8446b59a73a33b95	Allergic contact stomatitis (@DISEASE$) is an oral mucosal immunoinflammatory disorder variably characterized clinically by erythematous plaques, vesiculation, ulceration, and/or @PHENOTYPICFEATURE$ and by pain, burning sensation, or itchiness.	false
+5082fd460456e646bd4aee8ab7766bfe8fa27e15	Acute coronary syndrome (@DISEASE$) leads to clinical symptoms such as chest pain, dyspnea, and @PHENOTYPICFEATURE$.	false
+a8d75630d3a6b27e1ade7ebf8522369d1b395d03	The incidences of serious @PHENOTYPICFEATURE$, re-infarction and death were also higher in IGT+ACS patients and NIDDM +@DISEASE$ patients.	false
+f66c8cf5408a336609a073f267022b5cb89903a8	Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital proptosis, and midfacial hypoplasia and is related to the acrocephalosyndactylies (@DISEASE$) with @PHENOTYPICFEATURE$.	false
+1409179b54eb9ff85b2ec4180600d8abc06dbafa	To assess the incidence, types and management of @PHENOTYPICFEATURE$ and conduction abnormalities in patients with acute coronary syndromes (@DISEASE$) and renal dysfunction.	false
+e6730b66b9691e4d4548db5d55b4446d401dc3ce	Histologic examination revealed more @PHENOTYPICFEATURE$ in muscular tissue of animals treated with @DISEASE$ as compared with in QC-treated animals.	false
+1aaa207ef6898779158252f378baa1c7541d9b94	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by @PHENOTYPICFEATURE$, skull asymmetry, mild syndactyly, and facial abnormalities.	false
+1a418d1c203eb74159257bfd2e4e9eb53efeb9aa	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and @PHENOTYPICFEATURE$.	false
+e152a773412dc6c86b47dd7534ed88e35f4a73cd	The incidence of postoperative anal @PHENOTYPICFEATURE$ and delayed wound healing in @DISEASE$ group was lower than that in MMH group (P?<?.05).	false
+892a6290404c39ca27a1c52ea69bcae3d1897acc	Abdominal compartment syndrome (@DISEASE$) may complicate ECMO due to significant fluid shifts resulting in tense ascites and interstitial @PHENOTYPICFEATURE$.	false
+706775c1b49353933eec03b5bda2674d0da35b6d	[Spinal @PHENOTYPICFEATURE$ and @DISEASE$].	false
+69d483f50b9f29f3e56d238585ec7ce342a10105	[Internal frontal @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+6862e6e3441e6dc1e520ed76eeb3b0bcb0ab5237	Mutations in LMNA cause a spectrum of inherited diseases, including @DISEASE$ and related striated muscle disorders, partial lipodystrophies, a @PHENOTYPICFEATURE$ and progeria syndromes.	false
+021cadc9a177aa391275ea3c518a1670270f0f8f	By the end of forced alcoholization (the rats received 10% ethanol solution as the only source of fluid for 24 weeks; mean daily ethanol consumption was 5.0-6.5 g/kg), the rats developed @DISEASE$ @PHENOTYPICFEATURE$.	false
+7a03bd00b36c85356c47260d819693286fe716b2	Current information suggests that in patients with @PHENOTYPICFEATURE$ (CHF) who have asymptomatic ventricular arrhythmias, coronary artery disease (@DISEASE$ ischemic cardiomyopathy), and a positive signal-averaged electrocardiogram, electrophysiologic studies are useful for stratifying risk and guiding therapy.	false
+5c9a054357f8166154835817df5e6e44124857a4	Atrial synchronous pacing with short, nonphysiological atrioventricular (AV) intervals has been reported to increase cardiac output in selected patients with severe @DISEASE$ @PHENOTYPICFEATURE$.	false
+1ed0b3d49e7c1e8c9ff1f2b0c4bda2767463426f	Causes of end-stage heart failure were idiopathic @DISEASE$ myopathy (34%), ischemic @PHENOTYPICFEATURE$ (29%), congenital disorders (12%), amyloidosis (11%), and miscellaneous (15%).	false
+7971d9cae50779ead1563a5ebcebca4f22d024f7	Causes of end-stage @PHENOTYPICFEATURE$ were idiopathic @DISEASE$ myopathy (34%), ischemic heart failure (29%), congenital disorders (12%), amyloidosis (11%), and miscellaneous (15%).	false
+656a23e54bb7ad5fd2a2d9a8d02b9bec2d28c683	Despite optimal medical therapy, @DISEASE$ @PHENOTYPICFEATURE$ is associated with a dismal prognosis and relentless progression.	false
+ed61f71e8bacb6fb240aa1f3d6683949b14fb881	@DISEASE$ of the vestibular aqueduct/the association with @PHENOTYPICFEATURE$.	false
+60a327f5c9afd0a0c22c8065b9cfcd818db11892	Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with @PHENOTYPICFEATURE$, such as @DISEASE$ of the vestibular aqueduct or Mondini dysplasia.	false
+67a8ca8a29fdb9aad10f5a7ec2f01d335de161f4	However, cardiac binding is a simpler and less invasive procedure, which may be useful as an adjunct to prevent or delay progressive ventricular @DISEASE$ in @PHENOTYPICFEATURE$.	false
+d61b2c75eff253773d252c6ea8d66fc5b1f4acb2	Beneficial effect of the calcium-sensitizing drug EMD 57033 in a canine model of @DISEASE$ @PHENOTYPICFEATURE$.	false
+00d3b5333002cc8631c2f6b736b9e5a8333471ab	Dyssynchronous ventricular contraction, often associated with delayed electrical activation, contributes to worsened clinical status in patients with chronic @DISEASE$ @PHENOTYPICFEATURE$.	false
+46ed6763246d0641c5cd5df571f466cf948e8c50	To assess the effects of solitary, right-sided supratentorial intracranial @PHENOTYPICFEATURE$ on language and communication function patients were assessed preoperatively using the Western Aphasia Battery (@DISEASE$) and Boston Naming Test (BNT).	false
+91cf14e00d76d5f96fa945339569d3ef9f6e04e0	Branchio-oculo-@DISEASE$ with bilateral linear @PHENOTYPICFEATURE$ of the neck.	false
+2ea07fe5bc6a187c36727c97d8efb5a55dfd597a	Clinical findings led to the diagnosis of Branchio-oculo-@DISEASE$, characterized by branchial defects (@PHENOTYPICFEATURE$ cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum).	false
+39a7e83f2ebd59c876e2328fb38849b3272057d6	[@DISEASE$ ichthyosis, and @PHENOTYPICFEATURE$, what is the diagnosis?].	false
+f218889656d793f1b0905ca26530a1cc3cb7f69b	A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, @DISEASE$, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, @PHENOTYPICFEATURE$, and genital hypoplasia was observed in 4 children from 3 families of New Mexican Hispanic heritage.	false
+0f4d6a65c762437a8568c334be74d52ede1ee308	Pediatric @DISEASE$ may be associated with increased risk of @PHENOTYPICFEATURE$.	false
+b7919c3b293d713880dadcd872ec03eb4cb9ceff	To determine if @DISEASE$ is associated with an increased risk of a @PHENOTYPICFEATURE$.	false
+de61f66bd4001df9f0bd18acdf4fe1fa6d8c0eef	The pooled prevalence of @PHENOTYPICFEATURE$ in children with @DISEASE$ was 4.7% (95% CI 4.5%-5.0%)	false
+0b7819817cc5996b11c70742370049fea93894e1	In multivariate survey logistic regression models adjusting for sociodemographics and comorbid allergic disease, @DISEASE$ was significantly associated with higher odds of @PHENOTYPICFEATURE$ in 12 of 19 cohorts (P < .05).	false
+d82971b493f1995555b4160af4acc7651156211a	In pooled multivariate analysis, @DISEASE$ was associated with increased odds of @PHENOTYPICFEATURE$ (aOR [95% CI] 1.81 [1.57-2.05],	false
+d0e61660b91b44245a6722b535f5355d62d43bac	This article also lays out the ways this doctrine can be applied clinically and introduces examples of a variety of indications including some difficult cases, such as whiplash injury, intervertebral disc herniation, oculomotor nerve @PHENOTYPICFEATURE$, and @DISEASE$, etc.	false
+3a4da3ba55f797b2b2d4104c465138eccf9e14ad	We report a case of @PHENOTYPICFEATURE$ and methemoglobinemia after topical application of EMLA for curettage of molluscum contagiosum lesions in a 3.5-year-old girl with @DISEASE$.	false
+6bd96f6466b09e45bb931d5479d44c2e237f6f3e	Other complications were swelling, disability of mastication, @DISEASE$, hearing impairment and facial @PHENOTYPICFEATURE$.	false
+cc0455afdad1e6301bbd3cd6cec50827b70c9533	Atopy and @DISEASE$, asthma, connective tissue disorders, diabetes mellitus, @PHENOTYPICFEATURE$, and inflammatory bowel disease had no significant association with a positive keratoconus diagnosis.	false
+69f6f250ed817091cc349aec703f5400cf39f959	Infants with @DISEASE$ who developed hyponatremia and @PHENOTYPICFEATURE$ with raised aldosterone have been repeatedly described in the Japanese-language literature, but similar reports from other countries are scarce.	false
+5aecc1f19dd45f7a44c13d1e50fa3e3a5cfc3463	The ophthalmologist must first distinguish how much of the vision loss is due to the cataract versus the Fuchs corneal dystrophy (@DISEASE$) before determining the best surgical course, either cataract surgery alone or @PHENOTYPICFEATURE$ surgery combined with full thickness or lamellar keratoplasty.	false
+d24bda26a958b95ea83a5eeaa8ddb7f67593545d	The ophthalmologist must first distinguish how much of the vision loss is due to the @PHENOTYPICFEATURE$ versus the Fuchs corneal dystrophy (@DISEASE$) before determining the best surgical course, either cataract surgery alone or cataract surgery combined with full thickness or lamellar keratoplasty.	false
+ecf3275deab84a3d48389c4089f0d84dd22861a6	The ophthalmologist must first distinguish how much of the vision loss is due to the cataract versus the Fuchs corneal dystrophy (@DISEASE$) before determining the best surgical course, either @PHENOTYPICFEATURE$ surgery alone or cataract surgery combined with full thickness or lamellar keratoplasty.	false
+6bfe5346587943ba28b77a715a08069d16da9df2	Semiology, but not the age of onset, depended on the topography of the dysplasia, with @PHENOTYPICFEATURE$ in all cases of posterior @DISEASE$.	false
+150faafb581fe0ad2dd1e6b6238c7c26031018e8	Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (@DISEASE$), @PHENOTYPICFEATURE$, keratoconus, and dry eyes.	false
+b3916ed1bf40f7a62164e86c07aed5b819d16114	Considering that no exponential changes were aggravated after performing @PHENOTYPICFEATURE$ surgery alone, cataract surgery would be a preferable option in @DISEASE$ patients compared to an approach of "wait-and-do" penetrating keratoplasty combined with cataract surgery.	false
+8ab561bc734b624d4a496b95cbfdb4c3997dc444	Considering that no exponential changes were aggravated after performing cataract surgery alone, cataract surgery would be a preferable option in @DISEASE$ patients compared to an approach of "wait-and-do" penetrating keratoplasty combined with @PHENOTYPICFEATURE$ surgery.	false
+eb48ffe53cf8b81fdbc6dd95b68c0994920d74d7	Considering that no exponential changes were aggravated after performing cataract surgery alone, @PHENOTYPICFEATURE$ surgery would be a preferable option in @DISEASE$ patients compared to an approach of "wait-and-do" penetrating keratoplasty combined with cataract surgery.	false
+866aa9548cb33d82411dcf6eff5b7d0ef519a764	@DISEASE$ (CMT4A) is a severe, autosomal recessive @PHENOTYPICFEATURE$ linked to chromosome 8q13-q21.	false
+2eb05e1baf32f9d0a68e3136db3e4d764912f7ec	We present a case of a 12-year-old boy who presented with papilledema, @PHENOTYPICFEATURE$ and hydrocephalus who was found to have a @DISEASE$.	false
+3c0cbce601ce88431fe13a535761acb660408461	Two unrelated children (one male, the other female) had unusual craniofacial anomalies consisting of hemangiomatous @DISEASE$, lip pseudoclefts, and identical @PHENOTYPICFEATURE$.	false
+a97311d7b922618cff54f5e6bce06a8af799b123	Bilateral @DISEASE$ sinuses associated with intrauterine and postnatal growth retardation, premature aging, and @PHENOTYPICFEATURE$: a new syndrome with dominant transmission.	false
+004da3c692c73061f692d5f9a97a4e3b376eacba	Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by @DISEASE$ sinus defects, ocular anomalies and @PHENOTYPICFEATURE$, including lip or palate cleft or pseudocleft, and is associated with mutations in the TFAP2A gene.	false
+2afd925cd799ca6aa0938d48788d326a119d8f51	Brief clinical report: a new syndrome of hemangiomatous @DISEASE$, lip pseudoclefts, and @PHENOTYPICFEATURE$.	false
+f6f6f965b056cf61e02c00c1bc5ab4c1ed21ab5d	Encapsulating peritoneal sclerosis (@DISEASE$), a rare but serious complication of long-term PD, is characterized by nausea, @PHENOTYPICFEATURE$, weight loss, anorexia, and constipation.	false
+dcadaf438e83454dda218930ca373f5bb6e6681e	Both EPS and the newly found component FucNAc in @DISEASE$ from S. aquatilis extend the possible components of cyanobacterial EPS and the knowledge of @PHENOTYPICFEATURE$ of cyanobacterial metabolites.	false
+c794777253352363d01c79b2e02fa2ecb0f03d11	Both @DISEASE$ and the newly found component FucNAc in EPS from S. aquatilis extend the possible components of cyanobacterial EPS and the knowledge of @PHENOTYPICFEATURE$ of cyanobacterial metabolites.	false
+c1aa11b8636a7cbedc965e42dc34e6d62750859f	Based on these results, we suggest that there are significant changes in the microbial population in @DISEASE$, urine and seminal fluid of subjects with @PHENOTYPICFEATURE$ and BPH, indicating a possible role for these bacteria in these two conditions.	false
+0db36666ea70c2dec761ca10bc13595cc7d007a3	In order to understand the possible association between various bacteria and @PHENOTYPICFEATURE$, quantitative real-time PCR assay was performed to quantify the amount of strains of bacteria in urine, @DISEASE$ and seminal fluid.	false
+9ffa5d30165b43bcd09de13251387f69cc520826	We describe a patient with four types of tardive and persistent @DISEASE$ such as dystonia, dyskinesia, @PHENOTYPICFEATURE$ and myoclonus, induced by haloperidol.	false
+6f046359a82e76d606ca8589e1cb9d87c8268c88	@DISEASE$ in AD are associated with severe @PHENOTYPICFEATURE$ in attention and visuospatial function.	false
+3dd207357ee990078836bca7965a0965ff6f8378	We report a case of @DISEASE$ presented with blood-tinged effluents and @PHENOTYPICFEATURE$.	false
+0a94e0f82d4043c44fa25a47742edceab3cc3d2c	Mild cognitive impairment (MCI) may be accompanied by extra pyramidal signs (@DISEASE$), which are related to the severity and type of @PHENOTYPICFEATURE$.	false
+a1117191d1e6d2fbc06958a9cf90df65c400b63c	Extrapyramidal signs (@DISEASE$) are common in patients with mild @PHENOTYPICFEATURE$ (MCI).	false
+253ca1feffe29e30ac5b9654bfea641eccb66f99	The severity of @PHENOTYPICFEATURE$ was associated with BFI, as well as the dementia severity in the @DISEASE$ group.	false
+326869bc5ec4bf8aacecc8b5d47f13d4cc90db90	@DISEASE$ is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone @PHENOTYPICFEATURE$ loss, synkinesia, eye movement abnormalities, poor balance due to cerebellar ataxia, etc.	false
+14ca7ffff977b881a767e0f68f4fa4a420074499	ERCP examination was performed in 52 infants with @PHENOTYPICFEATURE$ (10 with infantile hepatitis, 5 with congenital biliary dilatation, 3 with paucity of intrahepatic bile duct, 2 with @DISEASE$, and 1 with postoperative jaundice of hepatoblastoma) aged from 8 days to 300 days (mean, 71 days).	false
+1813c1846a693890e3d74bcc385c660c79d07689	We wish to report two patients with gallbladder agenesis in association with @DISEASE$ without @PHENOTYPICFEATURE$.	false
+6709b4b932e09eb8ee0d6ebce36017ab05bdd447	Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic @PHENOTYPICFEATURE$, and esophageal and @DISEASE$.	false
+ee3b3816681ffa37a91a5da47f8b7d77880941fb	@DISEASE$, @PHENOTYPICFEATURE$, and intestinal infarct in truncal aplasia cutis congenita.	false
+8f1f64276dcd91eba956b1a39fc6fb8b8fbcf2e0	Autopsy results showed polysplenia, short pancreas, extrahepatic @PHENOTYPICFEATURE$, heterotaxy of liver, tracheoesophageal and @DISEASE$, right lung hypoplasia, cardiac defects with tetralogy of Fallot, axial skeletal defects, and minor genitourinary disorders.	false
+ae476720ea4e2e115250a7cca95c3b759039086b	Combined pure esophageal atresia, @DISEASE$, @PHENOTYPICFEATURE$, and pancreatic ductal atresia: prenatal diagnostic features and review of the literature.	false
+4310b4915dde8f27346fc8dd06090b578309b909	A newborn boy with aplasia cutis congenita had @PHENOTYPICFEATURE$, distal @DISEASE$, and a severe infarct of the intestine resulting in complete absence of the entire midgut.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+39d3d2aeea6b30eb677ae0489e6bd29e73bcf812	We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, @DISEASE$, extrahepatic @PHENOTYPICFEATURE$, hypoplastic pancreas, and hypospadias.	false
+5688ef9e4a8b0177b5398fd42d9f788874a8fd34	We report the first case of a child with extrahepatic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e4b0ee44ea29b5f2e92988c3338526e6d0961456	@DISEASE$ is characterized by heart failure and preserved left ventricular EF in the absence of significant @PHENOTYPICFEATURE$ and hypertrophy; typical, although not pathognomonic, echocardiographic features are atrial enlargement ad restrictive filling pattern.	false
+3439c1a9444b601ce32ccf97d4a74671795f70ff	[Bilateral phrenic nerve @PHENOTYPICFEATURE$, dysautonomia and @DISEASE$ in a case of POEMS syndrome].	false
+b1f9c3c3f96c8e6905d5c7e246f18fa02d82170b	Additionally, he had arterial hypertension, diabetes, hyperlipidemia, @PHENOTYPICFEATURE$, hyper-CK-emia, hepatopathy, atrial fibrillation, recurrent heart-failure, pulmonary hypertension, mitral insufficiency, and @DISEASE$.	false
+da2917a32b77ce8fe10896abb55ee1aa434739a3	@DISEASE$ in a patient with extrahepatic @PHENOTYPICFEATURE$.	false
+295c88cedf6e61ae97bc453eb84e9682a7431326	To characterize the nature and impact of @PHENOTYPICFEATURE$ on quality of life (QOL) in women with @DISEASE$ (IC/BPS).	false
+b541d20ee14a1b502f6b8ab65a5353bfce6333ab	To characterize the nature and impact of @PHENOTYPICFEATURE$ on quality of life (QOL) in women with interstitial cystitis/bladder pain syndrome (@DISEASE$).	false
+f2fad06574e9834df526c61a08ab7b5dfc195c88	@PHENOTYPICFEATURE$ and nocturnal symptoms: relationships with quality of life in a population-based sample of women with @DISEASE$.	false
+db750682d536141c5aca6f4f5bb2da8c2fd1091e	The capability of the developed video analytic tool to distinguish wild-type from transgenic zebrafish could provide a useful asset to screen for compounds that reverse the disease phenotype, and may be applicable to other @PHENOTYPICFEATURE$ besides @DISEASE$.	false
+aaeb02758c6206bc4bb82f1827dff63abdd62239	Among patients with @PHENOTYPICFEATURE$, those with @DISEASE$ and critical illness represent by far the largest group undergoing artificial nutrition.	false
+aa430b3e2f12ad33d5116c59c6779ae17038000f	Most cases of @DISEASE$ are expected to pre @PHENOTYPICFEATURE$/acute tubular necrosis (ATN) 70-80%.	false
+eb0890e1686ea7a8694ab84ffa5b4a3fceef4f2c	This movement disorder characterised by chorea, emotional lability and @PHENOTYPICFEATURE$, is one of the major criteria of @DISEASE$.	false
+4564e5843518eecb166e8ce70a1f9327dda02a85	Although ATN secondary to ischemic and toxic injuries is the commonest @DISEASE$ syndrome, urinary obstruction is a rare cause of severe @PHENOTYPICFEATURE$.	false
+1fd66cec928c39351d02e1f616b91218f32da62c	We then expand on the pathophysiologic mechanisms of @PHENOTYPICFEATURE$ and discuss the rationale for current therapeutic strategies in @DISEASE$ patients.	false
+fdd7c248de0aab2e9159175d5027a5cdf713a525	@DISEASE$ @PHENOTYPICFEATURE$ suppression in the nucleolus.	false
+afc7a533907e67fc2fbb075bf41706280e60f07b	The prevalence of ARF in studied population was 14%, but only 3.8% of @DISEASE$ patients with acute pancreatitis had isolated @PHENOTYPICFEATURE$.	false
+c9357c7b8736be02dacba0872e84bc5e0285fe70	The @DISEASE$ @PHENOTYPICFEATURE$ suppressor.	false
+e690976cc7b4232632e58b696449b374ef8fbd25	Continuous BV monitoring in the stable critically ill patient with @DISEASE$ could predict, and possibly prevent, development of @PHENOTYPICFEATURE$ episodes.	false
+908bcc045884a4cfe3eb932ab0380ed3df2b3767	The likely causes of @DISEASE$ in this patient are explored and the possible etiologies of @PHENOTYPICFEATURE$ in patients undergoing UAE are reviewed.	false
+f56d32ced63a1da37e9312a28f3abd8325b85a66	The objective of this article is to educate military physicians and providers about rare, endemic rheumatic diseases that may be encountered in deployments to the Middle East region, specifically Familial Mediterranean Fever (FMF), Behcet's disease (BD), and @PHENOTYPICFEATURE$ necrosis factor-associated periodic syndrome (@DISEASE$).	false
+7e7298945a993a0729ea1f88cffb21c74542a70c	cases among 16 @DISEASE$-negative @PHENOTYPICFEATURE$ had no mRNA and protein expression.	false
+7ab0b8da318b0842d81a906683c1acf06192cbaf	Mutations in the TNFRSF1A gene encoding the @PHENOTYPICFEATURE$ necrosis factor ? cell surface receptor, TNFR1, cause TNFR-associated periodic syndrome (@DISEASE$) and polymorphisms in TNFRSF1A, including rs4149570, rs767455 and rs1800692, are associated with inflammatory diseases.	false
+04e2ea789f9b7f96730700eafdcff2bbf38d6d0f	The @PHENOTYPICFEATURE$ necrosis factor (TNF) receptor-associated periodic syndrome (@DISEASE$) was suspected and confirmed by DNA analysis.	false
+e7d0ac8b992b9df081de794d29dfae262313cf54	Patients with @PHENOTYPICFEATURE$ necrosis factor (TNF) receptor-associated periodic syndrome (@DISEASE$) are hypersensitive to Toll-like receptor 9 stimulation.	false
+597c8508796872658e68eb8945f7c45e993ac7d1	Reactive systemic (AA) amyloidosis leading to @PHENOTYPICFEATURE$ is the most severe complication of tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$).	false
+be2a1f294e79eff1bd2c5d32d40624b59474e6c6	Successful treatment with infliximab of a patient with @PHENOTYPICFEATURE$ necrosis factor-associated periodic syndrome (@DISEASE$) who failed to respond to etanercept.	false
+a94a8c610f165ac1fa91a72f842048d391e7d923	The @PHENOTYPICFEATURE$ necrosis factor(TNF)-receptor-associated periodic syndromes (@DISEASE$) have been linked to mutations in theTNFRSF1A gene, encoding a TNF-alpha receptor, and the CIAS1 gene is mutated in familial cold autoinflammatory syndrome.	false
+fa84447018e7270627934d670720c9a35b9b3d6b	A further patient with the @DISEASE$ of @PHENOTYPICFEATURE$, unusual face, and intrauterine growth retardation.	false
+bff903c222540fcf37555c0f45d83c593a2c0352	@DISEASE$ (WHS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, craniofacial malformation, and defects in skeletal and heart development.	false
+1f8faceb922f898fb5f7c0a52ebbaa3c3fe1a13d	@DISEASE$ (WHS) is a well-known multiple congenital anomalies/@PHENOTYPICFEATURE$ syndrome, firstly described in 1961 by Cooper and Hirschhorn.	false
+e3f7a5a4068b7880f18c5651698f85c4195f5f7d	Tethered cord, @PHENOTYPICFEATURE$, and periventricular cysts in @DISEASE$.	false
+da380184a9fa9fdf55ad28767afdfa14ba654091	@DISEASE$ (WHS) caused by 4p16.3 deletions comprises growth and @PHENOTYPICFEATURE$, distinct facial appearance and seizures.	false
+1a7c6b32c442d48f6277af5ea307aa5deca43554	@DISEASE$ is defined by a collection of core characteristics that include @PHENOTYPICFEATURE$, epilepsy, growth delay, and craniofacial dysgenesis.	false
+049806e03e11215230aced7336c6a6eb7e2ac9cc	We report on a 21-year old woman with @PHENOTYPICFEATURE$, autistic features, severe obesity, and facial dysmorphisms suggestive of @DISEASE$ (WHS).	false
+0871a3a0f2a3fb1dae9fef1f03fab62ccb9ac9a1	The @DISEASE$ is characterized by prenatal and postnatal retardation of growth, @PHENOTYPICFEATURE$, microcephaly, convulsions and a peculiar facies.	false
+73ec01531f51c34119ad70b23c111bc399a8a1cb	@DISEASE$ (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental @PHENOTYPICFEATURE$, and seizures.	false
+5870bcc6558daa577fb417c1ac14fbe878b9e986	Deletions within HSA band 4p16.3 cause @DISEASE$ (WHS), which comprises @PHENOTYPICFEATURE$ and developmental defects.	false
+0f9b6afb0a95724833e2d5612a9320bd4d24f7e0	They reach from pruritus over tension in the female breast, marbled skin and pain in the joints to severe neurological @DISEASE$ like @PHENOTYPICFEATURE$ or hemiplegia.	false
+ecd9c870beec20ac2e6df7b630190968a8bf6c0d	@DISEASE$, a @PHENOTYPICFEATURE$ with mostly sweat gland, but also follicular infundibular elements, is described on the flank and head of two young cats.	false
+fbc3baa4a27f74f83777f00c93718cf72856cf78	@DISEASE$ is an infrequent @PHENOTYPICFEATURE$ of the sweat glands, usually of the scalp or temporal area.	false
+f4ade0498ba0e0947346d0497c7d1f8d480bfcf3	@DISEASE$ (SCAP) is a @PHENOTYPICFEATURE$ of apocrine sweat gland origin, occurring predominantly in children, in the head and neck region.	false
+8a99ef4dc97c32348cf74a039a25c61f73e0b9a3	@DISEASE$ (SCAP) is a rare @PHENOTYPICFEATURE$ with predominant apocrine differentiation.	false
+4f289e4361f31b4ea17788f9c1d7037a352ba7c6	We report a case of a 42-yr-old white male who presented 19 months post-cadaveric renal transplant (for @DISEASE$) with a 5 d history of nausea, @PHENOTYPICFEATURE$, abdominal cramping and diarrhea.	false
+15516bb21ef20fb7b3fbca175cba62747b12bc3b	With this software, we evaluated the range of GBM widths found in a cohort of Asian patients diagnosed with a spectrum of renal diseases including minimal change/IgM nephropathy, focal and segmental glomerulosclerosis, @DISEASE$, @PHENOTYPICFEATURE$ nephritis, diabetic nephropathy, pauci-immune crescentic glomerulonephritis, thin basement membrane disease, and tubulointerstitial nephritis.	false
+389027edb82048421d60a3293de92ebc88b450b1	Conversely, rituximab failed to show an effect for antiphospholipid syndrome, autoimmune hepatitis, @DISEASE$, inflammatory myositis, primary-progressive multiple sclerosis, @PHENOTYPICFEATURE$, and ulcerative colitis.	false
+ac09c759c1dfb5960b1dc529e76d6109a1796386	The clinical patterns of IgA nephropathy and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin purpura, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only @PHENOTYPICFEATURE$ in 3.2% children with @DISEASE$.	false
+5fcb794dcf2b718903306d28353a49e9c9415d88	The clinical patterns of @DISEASE$ and HSPN were similar, but extra-renal manifestations were more often in HSPN, all of them had skin purpura, 59% had gastrointestinal symptoms and 47% suffered from arthralgia, compared with only @PHENOTYPICFEATURE$ in 3.2% children with IgA nephropathy.	false
+bd5a7a9e5c3e4c230d52b0c173133c96cc7c90f1	@PHENOTYPICFEATURE$, endothelium dysfunction, and microvascular damage in patients with @DISEASE$.	false
+7d5f714bbb4a15ce2a09362be60fc48b74df7f8c	@PHENOTYPICFEATURE$: a complication of @DISEASE$.	false
+1b4971a58d4e7c1e7bfd281e2aa5d172063dc905	Trigeminal and @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and silicosis.	false
+fd63a81214c5346db63ee1e895aa91a04b6b1655	@DISEASE$ and @PHENOTYPICFEATURE$ as a paraneoplastic syndrome in non-Hodgkin's lymphoma.	false
+3e4ba621f2a9ee0977b5be75e3b46f090a9d448d	A transversal study was developed with systemic lupus @PHENOTYPICFEATURE$, @DISEASE$ and mixed connective tissue disease's patients.	false
+0948f6d146eaf5c317d9fbd504ecb467b929cf62	@PHENOTYPICFEATURE$ is frequent in systemic sclerosis and associated with severe disease: a study of the EULAR @DISEASE$ Trial and Research group.	false
+a7520eb4e3d06e316d13783172fda5898c9c5926	@PHENOTYPICFEATURE$ is frequent in @DISEASE$ and associated with severe disease: a study of the EULAR Scleroderma Trial and Research group.	false
+c1a603ac88c21fa2a65f5b7d13ac947b633f538c	Overlap myositis was associated with @DISEASE$ and systemic @PHENOTYPICFEATURE$ lupus.	false
+5b8a67a13974dc931fef2459cc8a9f3a6f15ad1e	@DISEASE$ @PHENOTYPICFEATURE$ definition, classification and treatment strategies our experience and review of the literature.	false
+e858f9228a6a3a0da8a716b4dea65b556aa38dc0	@PHENOTYPICFEATURE$ in course of @DISEASE$.	false
+eeeeabc6a4b0d7ff1d8925d697bb41a0b6c30f7e	Skin @PHENOTYPICFEATURE$ in @DISEASE$ have been known since the end of the last century.	false
+a7c8d080a3d7c9d8c7be35e59fae4ea75792f3b1	@DISEASE$: a new syndrome with cleft lip/@PHENOTYPICFEATURE$ retinopathy and cholestasis.	false
+7aa5ff90a21580a4912fcfc823cf7736041825da	He had severe @DISEASE$, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, @PHENOTYPICFEATURE$, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics.	false
+8be54b311bf457c803a89b5a3e5363e9170ffe7d	@DISEASE$, patent ductus arteriosus, intraventricular hemorrhage and @PHENOTYPICFEATURE$ were diagnosed at birth.	false
+fc0e8643761812394bb404d58ed8a4d754faf168	Fetal macrosomia and @DISEASE$, cardiomyopathy, hypoglycemia, @PHENOTYPICFEATURE$, hypomagnesemia, polycythemia, and hyperviscosity all can occur as a result of maternal hyperglycemia and are discussed in detail.	false
+7feaf1e146870342ec028f484db26b8b8df079b4	Fetal macrosomia and @DISEASE$, cardiomyopathy, hypoglycemia, hypocalcemia, @PHENOTYPICFEATURE$, polycythemia, and hyperviscosity all can occur as a result of maternal hyperglycemia and are discussed in detail.	false
+ca30ccd72cdf60b7ffc67e14911011c2756b00f9	Of the asphyxiated neonates, @PHENOTYPICFEATURE$, hypothermia, @DISEASE$, and seizures were significantly associated with an increased risk of death.	false
+e66ad0e23e4b0af8c436b49d8814eec67f69fcb2	[@DISEASE$ (idiopathic respiratory distress syndrome) in newborn infants with patent ductus arteriosus and @PHENOTYPICFEATURE$].	false
+209676fe3cc6c1d3c958deaa5a89c9b6910f0a57	Two unrelated individuals presented with severe hypotonia, bradycardia, respiratory insufficiency, and @PHENOTYPICFEATURE$; two sisters showed antenatal cerebellar hypoplasia, @DISEASE$, and epileptic encephalopathy.	false
+f637cf13a79655f12fcd85553eaa5a5f786cb833	One infant died early from intraventricular hemorrhage and @DISEASE$, one fetus had @PHENOTYPICFEATURE$, and the others were normal.	false
+872ac13d0847eb661ecb386923ccc7729a46820f	The aim of this study is to evaluate the impact of multiple pregnancies, maternal @PHENOTYPICFEATURE$, and preeclampsia on the effect of antenatal steroids on @DISEASE$ (RDS).	false
+4fd188a582d8a72b37cfc47932631070070b44a2	The neonatal variables studied were: polyhydramnios, gestational age at birth, prematurity, cesarean delivery, large for gestational age (LGA) newborn, macrosomia, Apgar score, @DISEASE$, hypoglycemia and @PHENOTYPICFEATURE$.	false
+c41732d6a767d06ee0a50c17cf4e60c3e43a2ba9	Successfully treated cases include post-operative @PHENOTYPICFEATURE$, @DISEASE$, massive meconium aspiration, and persistent fetal circulation.	false
+6b53f517e7de76825e233e82b48b21212c97fe82	give rise to hyperkalemic periodic paralysis, @DISEASE$, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2+ channel give rise to hypokalemic periodic paralysis and @PHENOTYPICFEATURE$.	false
+e868e54007488f063cac34dba6f0da344bbd05ef	Moreover, in vivo treatment of @DISEASE$ mice with the alpha2-adrenergic receptor agonist clonidine resulted in marked hypoinsulinemic @PHENOTYPICFEATURE$.	false
+81789030f966c53473e5d11f9e9ec26e8bb3b09f	Mutations in the CLRN1 gene cause @DISEASE$ (USH3), a human disease characterized by progressive blindness and @PHENOTYPICFEATURE$.	false
+94059bfa5805f77c855d0ecd652e966203b1f906	Snyder-Robinson syndrome (@DISEASE$, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, @PHENOTYPICFEATURE$, osteoporosis and unsteady gait.	false
+05c896d975695337b2fa3f95b7b3932839c277ee	@DISEASE$ (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, @PHENOTYPICFEATURE$, osteoporosis and unsteady gait.	false
+8366fc8d922bee8048f96b146364a2dad58317ca	A 13-yr-old girl affected by @DISEASE$, treated with etanercept, developed a bilateral and asymmetric @PHENOTYPICFEATURE$.	false
+c271106546eb7152f418b8a43d24e5f63d65dec8	@DISEASE$ and acquired @PHENOTYPICFEATURE$ in a teenager: is there an association?	false
+f2d7c1b240ad30ef52c12f5760988b513aacbe68	The @DISEASE$ (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of @PHENOTYPICFEATURE$.	false
+d0fd496153be42a286d316945a99b46788e94678	In the sixth treatment week, the patient developed an erythematous rash which after a week of solar exposure, presented temperature, general discomfort, and in the head, on the front and back part of the thoracic and upper and lower limbs, @PHENOTYPICFEATURE$ lesions with scabbed areas, loosening epidermis areas with a positive Nikolsky sign and severe mucous membrane involvement, being diagnostic of @DISEASE$.	false
+5c6ae6be66faa6edbbaac847401ecf0e60c5803f	Adolescents with mild @PHENOTYPICFEATURE$ (@DISEASE$) are overrepresented among youth with both externalizing and internalizing problems.	false
+eddff8b02cdf068e3509a0e64cf19144861cd3aa	This chromosomal aberration was associated with multiple congenital anomalies, including @DISEASE$-facial hypoplasia, arthrogryposis, and @PHENOTYPICFEATURE$.	false
+25cd1a3306596dfde9cd2720292ad46a07592a61	This study examined perceived credibility of youth with mild @PHENOTYPICFEATURE$ (@DISEASE$) who provide courtroom testimony.	false
+2d7f3b01ad11847c699eed793d17f80bb93cf0e7	Studies conducted on mild @PHENOTYPICFEATURE$ (@DISEASE$) in children are infrequent and the prevalence rates vary widely.	false
+221ead8cbc10b378fcee38aac1fa0bda148d61d6	His main features are: short stature, head circumference in the lower normal range, @DISEASE$-facial hypoplasia, radial defects, and @PHENOTYPICFEATURE$.	false
+d42094b6d8b30d4d4ea012cc0a7126dcc35ef9e8	To compare adaptive functioning in children with mild @PHENOTYPICFEATURE$ (@DISEASE$) with that of children with attention-deficit/hyperactivity disorder (ADHD).	false
+f8a786befbd5727dc9880b89c59b0d5350e01072	This paper analyses the conceptual reasoning ability of children with mild @PHENOTYPICFEATURE$ (@DISEASE$) by their achievements on the Wisconsin Card Sorting Test (WCST).	false
+eee67a48d4656ee908c4330c27fe391defb32734	Apert syndrome is a clinically distinctive condition characterized by craniosynostosis, @DISEASE$-face hypoplasia, and severe symmetrical @PHENOTYPICFEATURE$ of the hands and feet.	false
+c2b55f475338b7e8be03f49d11e6d4f68bcb4868	TBI subjects were compared with patients suffering from a health condition classified as mild @PHENOTYPICFEATURE$ (@DISEASE$).	false
+05625d1ce101d0186a1047a200f29156ccd32778	Thirty-five patients had MIDD, 8 were asymptomatic children of @DISEASE$ patients, and 3 had MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes).	false
+cb81b2357caae50548a0b4f45e688faed474b888	Uveitis associated with @DISEASE$ is the most common form of @PHENOTYPICFEATURE$ in children.	false
+3a12f9af223a60fd42d430024df049aa6d3fc0a8	Hemophagocytic lymphohistiocytosis associated with autoimmune diseases is seen in patients with systemic @DISEASE$, adult-onset Still's disease, and @PHENOTYPICFEATURE$, whereas it is rarely seen in patients with dermatomyositis.	false
+28d11b64a22fa664c17d29c9d48604ccd8b2c5ae	Almost 700 patients have been treated for a variety of autoimmune diseases, mostly multiple sclerosis, systemic sclerosis, also referred to as scleroderma, @PHENOTYPICFEATURE$, rheumatoid arthritis and @DISEASE$.	false
+faa33e02b05beb8e20f94e40161a3b1310f7ea85	@PHENOTYPICFEATURE$ and micrognathia in a patient with @DISEASE$.	false
+a0bdbca7bf2289123b0bf55379a79268d8a4ea18	Valvular, myocardial, and pericardial involvement causing morbidity and mortality can occur in association to rheumatic heart disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4933358d07702664e47731bdfedef96b5e7e4272	The disorders reviewed are @DISEASE$, @PHENOTYPICFEATURE$, Wegener's granulomatosis, juvenile dermatomyositis, juvenile scleroderma and autoinflammatory syndromes.	false
+0fee1ad58be6a88454fb69fc2072eb38c9c5f681	Twenty-two patients with rheumatoid arthritis, 3 with seronegative @DISEASE$, 4 with @PHENOTYPICFEATURE$, and 4 with psoriatic arthritis have undergone therapeutic pheresis at our institution over the last 3 yr.	false
+1e3afece086dd42430719cd905edda8ccfafb9ca	Of those, 71 patients had juvenile @PHENOTYPICFEATURE$ (47.3%), 64 had @DISEASE$ (42.7%), and 15 had juvenile dermatomyositis (10%).	false
+11323742f013ab7ad1f02e3d42654e860c2b7797	Children who take methotrexate for @DISEASE$ may experience side effects, including @PHENOTYPICFEATURE$, leading to anticipatory nausea in some children, and fear of injections or blood tests.	false
+93cb1fbd6115a20bce3f40d21bb9846cbd00d85f	Two patients had associated @PHENOTYPICFEATURE$, one had @DISEASE$ and one had Glanzman?s thrombasthenia.	false
+c7a83bad3fcba615578f85586d95168a049e534a	Most family members exhibited mild @PHENOTYPICFEATURE$ and low-grade @DISEASE$.	false
+40059601c87cef050321bc7134942e0c801242fe	A total of 16 members of a Japanese family with @PHENOTYPICFEATURE$ and @DISEASE$ underwent detailed clinical examinations.	false
+3ebe3fc4cc767024d9ee65565c462d2118910a90	Clinical evaluation showed bilateral superior coloboma, @DISEASE$, and inferior @PHENOTYPICFEATURE$.	false
+3e2fead36b9f6e5e11040bed8ca55f6a0127c43e	The expressions of COX-2, VEGF-A, and VEGF-D were significantly higher in IMC, MVD and @DISEASE$ @PHENOTYPICFEATURE$, but not PI.	false
+2a768e7b94cf31ecc13b409d3887be50ee88cc6b	Necrosis exhibited the lowest scatter power signature across all the tissue types considered, with about 55% lower median scatter power than @DISEASE$ @PHENOTYPICFEATURE$ cells.	false
+9917baa748f4ad53f672304c5eee8b033f1b1754	@DISEASE$, @PHENOTYPICFEATURE$ and the chromosome 13q deletion syndrome.	false
+18d1a5eeb1f9867bdf3f805da4c0f1d05e4b95a5	Major ocular abnormalities, such as anophthalmia, cyclopia, @DISEASE$, microphthalmia, corneal opacities, coloboma, cataracts, intraocular cartilage, retinal dysplasia and absent optic nerves; and, minor abnormalities, such as @PHENOTYPICFEATURE$, abnormal eyelid fissures, and Brushfield spots are present in individuals with abnormal chromosomes.	false
+c2ca1dddc1839d2ce68f95deb42def38a39a014d	Major ocular abnormalities, such as anophthalmia, cyclopia, @DISEASE$, @PHENOTYPICFEATURE$, corneal opacities, coloboma, cataracts, intraocular cartilage, retinal dysplasia and absent optic nerves; and, minor abnormalities, such as ptosis, abnormal eyelid fissures, and Brushfield spots are present in individuals with abnormal chromosomes.	false
+c9a055637639b8897cae28266029f0c30579e4d6	Major ocular abnormalities, such as anophthalmia, cyclopia, @DISEASE$, microphthalmia, corneal opacities, coloboma, @PHENOTYPICFEATURE$, intraocular cartilage, retinal dysplasia and absent optic nerves; and, minor abnormalities, such as ptosis, abnormal eyelid fissures, and Brushfield spots are present in individuals with abnormal chromosomes.	false
+cd52b79d13898d8dd32ebc6fd07c94a65185ec35	@DISEASE$ seen after surgery for traumatic @PHENOTYPICFEATURE$.	false
+919b55fe131b016c92319f9619c793218b9cefb1	A vascular @PHENOTYPICFEATURE$ was found incidentally in two infants whose eyes were enucleated because of the clinical suspicion of @DISEASE$.	false
+0d381cb79b399d0d99e8d774c27f04ba48fef9f1	The main differential diagnoses comprise @DISEASE$, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked @PHENOTYPICFEATURE$ and congenital retinal detachment.	false
+51da6e4e74b7ba1bebfd45684db451c0bdf5db3a	The main differential diagnoses comprise @DISEASE$, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked @PHENOTYPICFEATURE$, sex-linked cataract and congenital retinal detachment.	false
+e6625d156876ffe8f4e6e2cff5a52ca730b6090b	@DISEASE$, @PHENOTYPICFEATURE$, coloboma, and neuroepithelioma of the pineal body.	false
+0d7933223dcafadcb69d7df69ebf966064b3bf91	Unregulated or disrupted cell proliferation may lead to dysplasia, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+f1205b1edfc23a22c896ce0ab82e25d5023e6fe6	In the del(13q) syndrome @DISEASE$, coloboma, and @PHENOTYPICFEATURE$ may be present.	false
+09bf9bf552f5668cd4611ff3d3e1362e2c12a95c	Typical ocular associations include @DISEASE$, @PHENOTYPICFEATURE$, and colobomas.	false
+41275fb88f8712cb7ae9665ecbf7d214c7bd8419	Classically PFV presents with features that make it easily distinguishable from @DISEASE$, including @PHENOTYPICFEATURE$, retrolental fibrovascular membrane, central dragging of ciliary processes, and cataract.	false
+7ff69eff5b36eef80115e8446caed1715d7e92ea	Classically PFV presents with features that make it easily distinguishable from @DISEASE$, including microphthalmia, retrolental fibrovascular membrane, central dragging of ciliary processes, and @PHENOTYPICFEATURE$.	false
+c3ec879a54616e90d368cc2554569fe6c79ff549	4 weeks later he developed exfoliative skin lesions with haemorrhage, fever, eosinophilia and acute liver and @PHENOTYPICFEATURE$, typical for an allopurinol hypersensitivity syndrome (@DISEASE$).An orthotopic liver-transplantation was performed.	false
+4827bdff010b0cbfeb0e0ed9e453d68e6a545cc1	Twelve and four resected hippocampi in patients with @DISEASE$ and with @PHENOTYPICFEATURE$-related epilepsy (TRE), respectively, and 11 autopsy controls were immunostained for Ki-67.	false
+1f6963f7494de042aaffa03a016308c34d20a15c	In @DISEASE$, a planned STR (aimed at decreasing surgical morbidity) followed by SRS to a preplanned residual @PHENOTYPICFEATURE$ aids in harnessing advantages offered by both approaches.	false
+16afd9e07c1f1959b70ae4f3ad7c927519e8035e	In patients with a hematological malignancy and @DISEASE$, statistically significant differences were observed in terms of younger age at onset; shorter duration of exposure; higher starting and maintenance doses of allopurinol; lower incidence of eosinophilia, leukocytosis, and underlying @PHENOTYPICFEATURE$; and more frequent occurrence of fever compared to AHS patients without a hematological malignancy.	false
+fe7c1019d53c9958e4a9cfcf0a12819678659919	In patients with a hematological malignancy and AHS, statistically significant differences were observed in terms of younger age at onset; shorter duration of exposure; higher starting and maintenance doses of allopurinol; lower incidence of eosinophilia, leukocytosis, and underlying @PHENOTYPICFEATURE$; and more frequent occurrence of fever compared to @DISEASE$ patients without a hematological malignancy.	false
+b83a7c582141db6d87e977a70228355eadb88086	Radiomics related to @PHENOTYPICFEATURE$ gray-level intensity, size, and inhomogeneity were top-ranked features for @DISEASE$.	false
+46ef61f492bf75d634254efc6b8815ffedaf7ef4	The clinical course in both cases was most consistent with @DISEASE$, given the intractable seizures, developmental regression, and, ultimately, death due to liver and @PHENOTYPICFEATURE$.	false
+17d6bb2e69faf2b431c18951e57000c60752efc6	Anti-ssDNA and @DISEASE$ were frequently found together and both were associated with more extensive skin disease with @PHENOTYPICFEATURE$.	false
+de26812e02975c0a25887b60f2450bb8b2a4d0db	Knowing @DISEASE$ helps to prevent misdiagnoses (as especially bacterial osteomyelitis, spondylitis, osteoplastic @PHENOTYPICFEATURE$ and metastases) and interventional diagnostic procedures.	false
+ac96d3765d486a0102dcde434a3642e3ed62fe30	We recommend that a diagnosis of @DISEASE$ be considered in children with unexplained early developmental delay, @PHENOTYPICFEATURE$, or partial seizures, especially epilepsia partialis continua.	false
+f0603b198f29640660481621c32269d895559606	Based on ictal EEG patterns and MRI scans, Ammon's horn sclerosis (@DISEASE$) or an epilepsy-associated @PHENOTYPICFEATURE$ was included in the differential diagnosis.	false
+163d3e2c0e96f21c98c2a54ded64cccd43a40ff7	Excluding eyes with outer retinal changes, isolated inner nuclear layer (INL) cysts were found in 6 of 131 eyes with glaucoma (4.6%) (3 uveitis, 1 prior hydrocephalus, 1 uveitis and pars plana vitrectomy, and 1 @DISEASE$) and 21 of 70 eyes with nonglaucomatous optic atrophy (30%) (5 optic neuritis, 11 anterior visual pathway @PHENOTYPICFEATURE$, 2 papilledema, 3 other) (P < .0001).	false
+36073645d7fdbb41957a5bea2221671878458eea	The population with pulmonary NTM infections shares phenotypic features with @DISEASE$, such as elongated body habitus, scoliosis and @PHENOTYPICFEATURE$.	false
+ab7d6a72ff0e3d4875a1dbe594d183e5d198696f	Long-term survival in a child with severe @DISEASE$, @PHENOTYPICFEATURE$ and severe intellectual disability.	false
+1d80416cb1fdc02d8ea38d0355e9db82615ece80	Peripheral @PHENOTYPICFEATURE$ in patients with @DISEASE$: abnormal otoconial development?	false
+0ef80b97e2b5e7629d1f9074acd3a380cda9ca20	Profiles of membrane properties (alkyl-chain order, fluidity, oxygen transport, and hydrophobicity) across the @DISEASE$ were very similar for clear and @PHENOTYPICFEATURE$ membranes.	false
+67bcd8d1fa741d30765b0461165afaa66b04f217	Slight to mild CHL and all types of otitis media are prevalent among patients with @DISEASE$, and some of these children have @PHENOTYPICFEATURE$ (SNHL).	false
+5b0135a999d9499a44a2d25c5082e6f49616b005	His cerebellar symptoms were considered to be caused by the @DISEASE$, and the diplopia, @PHENOTYPICFEATURE$, and hyporeflexia were attributed to LEMS.	false
+88acd28e81da24a39db2d6c7f08d8dcc9136fb5a	The individual presented @DISEASE$ (PCD) and additional symptoms including @PHENOTYPICFEATURE$, kidney dysplasia, severe kidney function loss, and congenital heart disease which potentially linked to primary cilia deficiency.	false
+e27801f03dcfd5ef4766054aa4cc6303949d941d	The individual presented primary ciliary dyskinesia (@DISEASE$) and additional symptoms including @PHENOTYPICFEATURE$, kidney dysplasia, severe kidney function loss, and congenital heart disease which potentially linked to primary cilia deficiency.	false
+3960fe025ae7964a8b35f9f3a57f9fd59772c11e	Periventricular lucency in computed tomography of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+71300c05ee8b5d58486f6e5a6665a29666305fd7	Dandy-Walker malformation is an @PHENOTYPICFEATURE$, which leads to @DISEASE$ and is associated with other abnormalities.	false
+3e4a33717e6c26fe74dfd5c02ebe63d7230d856e	Recording of the lumbar csf pressure during encephalography in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1c8f524d54618045a6603af7ce72b03d2f03e87e	DWM is an @PHENOTYPICFEATURE$, which leads to @DISEASE$ and is associated with other abnormalities.	false
+f859f7f639585af668cc21952c1c4a1bbe6b8c68	External @DISEASE$: radiologic spectrum and differentiation from @PHENOTYPICFEATURE$.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+9509ad233d5ba95bd833e1d6f78dfbd3f38e2ed8	Ick null mouse embryos displayed cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+057164d65873e021474d7d8e3f9b1fcbbbb38404	Ick null mouse embryos displayed cleft palate, @DISEASE$, polydactyly, and @PHENOTYPICFEATURE$, closely resembling ECO syndrome phenotypes.	false
+8a719344dcf15ff8f3a7a9e9935c0b0830935d2e	[@PHENOTYPICFEATURE$ and @DISEASE$ in adults].	false
+3bf43a1612cc26e31740075879574240628905c6	[@PHENOTYPICFEATURE$ and @DISEASE$ in adults.	false
+792a05d39d04e22d355d9de149917918a69fb3e3	@PHENOTYPICFEATURE$ in mouse embryos with @DISEASE$ induced by hypervitaminosis.	false
+3b2f4dac48283629329477480a751646a82852c0	Currently, there is no effective general screening program for pancreatic cancer due to the low incidence and the lack of an accurate and inexpensive diagnostic method; however, in patients with a?positive history of @DISEASE$ or in patients with a?known sporadic germline @PHENOTYPICFEATURE$ that is associated with an increased risk of pancreatic cancer, frequent screening is highly recommended to detect and to treat early stage PDAC.	false
+a3e0a24eaca3bd60d2a85479ee130571c87c594c	In patients with concomitant @DISEASE$, hypercalciuria, hyperuricosuria, @PHENOTYPICFEATURE$ was observed in 9.4%, 26.7% and 42.5%, respectively.	false
+347dae13c02a342552bfeb98837fa86fd167980a	In patients with concomitant @DISEASE$, @PHENOTYPICFEATURE$, hyperuricosuria, hyperuricemia was observed in 9.4%, 26.7% and 42.5%, respectively.	false
+469487f41266b0378fc54b4fc95aaaa764c3bd7b	We report the case of a 66-year-old man, recently diagnosed with @DISEASE$, presenting with new-onset visual and auditory hallucinations, "@PHENOTYPICFEATURE$, and repeated peaks of hyperglycaemia without hyperketonaemia or increased serum osmolarity.	false
+c3cc1aacf10fb23cee20df8168f2e86ff1413494	Our case is the first description of a patient with adult-onset SMA (@DISEASE$ [KWD]) and malignant @PHENOTYPICFEATURE$.	false
+4873bd6f5b7f6867bef196c229525480f3d57ca6	Malignant @PHENOTYPICFEATURE$ in a case of adult onset of spinal muscular atrophy (@DISEASE$).	false
+200969ec733659282137b76959580677011eb8dd	TACs include short-lasting, unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing; @DISEASE$; and cluster headache.	false
+e8fcad795514b1b1756e10c70fee3b0ecc221b08	Hemicrania continua (HC), @DISEASE$ (PH) and short lasting neuralgiform @PHENOTYPICFEATURE$ attacks (SUNCT and SUNA) are rare syndromes with a difficult therapeutic approach.	false
+84a04bd626fa9283ca38a747604ab4b72aafec68	The TACs include cluster headache, @DISEASE$, hemicrania continua, and short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing syndrome.	false
+25db81dfc160dcc67853f39b164accac9d67329b	Trigeminal autonomic cephalalgias (TACs) are primary headaches including cluster headache, @DISEASE$, and short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing (SUNCT).	false
+4f206080306bb75249a44e303b66c8c582381b6a	Trigeminal autonomic cephalalgias include cluster headache, @DISEASE$, and short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection, tearing, and rhinorrhea (SUNCT).	false
+f143c0a1ac134eb3dd53be77abb2a81fbb31032a	They include cluster headache, @DISEASE$, and short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing.	false
+45950f43382c7fa349473da987adcc0614665520	Trigeminal autonomic cephalalgias (TACs) comprise cluster headache, @DISEASE$, short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks, and hemicrania continua.	false
+a35a6136af530487b34e72334a085b8a584a19b0	The group includes cluster headache, @DISEASE$, and short lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing.	false
+b55afe3387b0c8f5edc84f00d71d1101b308e985	The trigeminal autonomic cephalalgias include cluster headache, @DISEASE$, short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks, and hemicrania continua.	false
+1ce627c8b1b5532d2e066e59263a93082d95cd27	The trigeminal autonomic cephalgias include cluster headache, @DISEASE$, and short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing (SUNCT).	false
+f5335a71b414b8c9d4f43a2d6146c6e078f903e8	Clinical @DISEASE$ occurs not only in familial hyperproinsulinemia, but also in insulinoma, @PHENOTYPICFEATURE$, and even in non-insulin-dependent diabetes mellitus (NIDDM).	false
+4bc3e2aea74beac4f76d7967fb5490b71596b7c7	Clinical hyperproinsulinemia occurs not only in familial @DISEASE$, but also in insulinoma, @PHENOTYPICFEATURE$, and even in non-insulin-dependent diabetes mellitus (NIDDM).	false
+9eecb6080152834f7e6bc3f406d7744d77f77071	Insulinoma with @DISEASE$ during hypoglycemia and loss of expression of vacuolar-type H(+)-ATPase (V-ATPase) in the @PHENOTYPICFEATURE$ tissue.	false
+489e56239e96289a61989dffb8207d746e4efde0	In conclusion, chronic endogenous hyperinsulinemia (and @DISEASE$) in humans is associated with a defect in peripheral glucose utilization that is only partially resolved 2 years after @PHENOTYPICFEATURE$ removal.	false
+a2a32cace0c1ca043a287620bff3a09db66b5a6c	@DISEASE$ was diagnosed in an infant with @PHENOTYPICFEATURE$ and pancytopenia.	false
+1922a4df2bc8380307367510937662887ae15019	@DISEASE$ (AML) remains difficult to treat due to @PHENOTYPICFEATURE$ heterogeneity and the development of resistance to therapy.	false
+a9090d46868c5caf000c57fe23b40fdc474e2401	After 10 months he was readmitted because of @PHENOTYPICFEATURE$ and was diagnosed @DISEASE$ by bone marrow aspiration.	false
+10f959f84a68d6bb318f396399fb389cf491a2d4	@DISEASE$ presenting with complete paraplegia and bilateral total @PHENOTYPICFEATURE$ due to central nervous system involvement.	false
+434679e2df643228f733352f4370294c2fd012d9	Neutropenic @PHENOTYPICFEATURE$ and severe sepsis in adult @DISEASE$ (AML) patients receiving intensive chemotherapy: Causes and consequences.	false
+e3dce0c35a24e8e83e043f0a8528623e1e035634	Progression to @DISEASE$ or RAEB in transformation was noted in five patients, and increasing @PHENOTYPICFEATURE$ was noted in one CMMoL patient while on protocol.	false
+adbe32baa9376ab504e806843fb74d4d39b6b34b	All 3 patients had @DISEASE$, histories of neutropenic @PHENOTYPICFEATURE$, and prolonged hospitalization stays.	false
+6dcdf126120ec404c569bc3429ac9c344fcd356e	We present an 86-year-old @DISEASE$ patient with @PHENOTYPICFEATURE$, cough, and sputum production.	false
+a732ef0e76b79e6982280e7f63617fea38ff14cb	@PHENOTYPICFEATURE$ and circulating blasts in older adults with newly diagnosed @DISEASE$: are they valuable factors for therapeutic decision-making?	false
+97e4f4df8c8abbd75775477e7da97168028e4092	Three patients developed second malignancies: @DISEASE$ (AML), myelodysplastic syndrome, and a cutaneous @PHENOTYPICFEATURE$.	false
+bbac763c60f2b3bd76894e9cd501a9ca49a46abf	The primary altitude illnesses are @DISEASE$, high-altitude @PHENOTYPICFEATURE$ and high-altitude cerebral edema.	false
+36f32196d4bd2138c9c5ca09de207eafcbaaa2f8	These results showed that left @PHENOTYPICFEATURE$ is related to DD genotype of ACE gene after successful reperfusion therapy of anterior @DISEASE$.	false
+b7d6d43d1957bb173b6d6b2d3859363204f77724	The extremes of @DISEASE$ are high-altitude cerebral edema and high-altitude @PHENOTYPICFEATURE$.	false
+44e6518d12b45f0e8f29c362dc253e4755d93814	High-altitude @PHENOTYPICFEATURE$ (HAPE) is a non-cardiogenic edema that is often preceded by symptoms of @DISEASE$.	false
+bfcb4fedcf25b371f7a46ed127e222471c46a2a5	Mechanical or inflammatory injury to pulmonary endothelial cells may cause impaired pulmonary gas exchange in acute mountain sickness (@DISEASE$) and noncardiogenic pulmonary edema in high-altitude @PHENOTYPICFEATURE$ (HAPE).	false
+beef94276e4c723f7c11f9da3497157060426558	Mechanical or inflammatory injury to pulmonary endothelial cells may cause impaired pulmonary gas exchange in acute mountain sickness (@DISEASE$) and noncardiogenic @PHENOTYPICFEATURE$ in high-altitude pulmonary edema (HAPE).	false
+95b49ec48f4f7f0a7d8fa95f75399169f26ca740	These include acute mountain sickness (@DISEASE$), high-altitude cerebral edema (HACE) and high-altitude @PHENOTYPICFEATURE$ (HAPE).	false
+4ff377d3289ab7c094f8e5e79e4e981298071b90	The mechanisms underlying acute mountain sickness (@DISEASE$) and high-altitude @PHENOTYPICFEATURE$ (HAPE) are not fully understood.	false
+03622bcd804f24bf9680f2c4d2bdccc2171cf952	In a small percentage of patients, @DISEASE$ can lead to high-altitude @PHENOTYPICFEATURE$ (HAPE) or high-altitude cerebral edema (HACE).	false
+517baa60d4f708a32c1744787202cd02af5982c8	1. Acute altitude illness: acute mountain sickness (@DISEASE$), high altitude @PHENOTYPICFEATURE$ (HAPE) and high altitude cerebral edema (HACE).	false
+1b72ff9551b0d0f40ef69a848d7fdc185b587107	The adverse effects of hypoxic hypoxia include acute mountain sickness (@DISEASE$), high altitude @PHENOTYPICFEATURE$, and high altitude cerebral edema.	false
+3358deb491107ebf50b5bc4e3ccaed22018f6d9f	@PHENOTYPICFEATURE$ in sporadic @DISEASE$.	false
+2ac4c36e575982c6a3e95d06280a05ce1b107e3b	This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, @DISEASE$ secondary to thyroid agenesis, and @PHENOTYPICFEATURE$.	false
+44953ab094d1055cfea7d96264590b43014aac35	However, from the endocrinologist's point of view, the genetic testing is only reasonable in patients with @DISEASE$ due to dyshormonogenesis in association with sever to profound @PHENOTYPICFEATURE$.	false
+f4461f983d20f2ad341bd4dc16c4666d4fa3f7cd	It is important to underline that the association of @DISEASE$, blepharophimosis and @PHENOTYPICFEATURE$ allows an exact clinical diagnosis, since the majority of other clinical aspects are common to other disorders.	false
+b461701a9f4a90958521b505746a62a5e8c9cf3a	@PHENOTYPICFEATURE$ is common in children with @DISEASE$ and should be searched for carefully and systematically to avoid difficulties related to speech and language development.	false
+ce6e9a088ab0e4361c5bb19c200bd32421fb1373	Whereas the hallmark of PS is @PHENOTYPICFEATURE$, other forms of @DISEASE$ may also lead to hearing impairment.	false
+9d12e10746ce0184e34d4901a681987330fb0b04	Blepharophimosis @PHENOTYPICFEATURE$ Epicanthus Inversus Syndrome With @DISEASE$ and Brachydactyly in a 7-Year-Old Girl.	false
+b81f806cec4adea918c8b6f41e5230a89c749faf	A 7-year-old female presented with blepharophimosis @PHENOTYPICFEATURE$ epicanthus inversus syndrome with @DISEASE$ and brachydactyly.	false
+710ec61b16520e9ccab7e331127cd994b4dcb8a1	Even in the era of @DISEASE$ screening mild and subclinical @PHENOTYPICFEATURE$ remains a relatively common complication of severe congenital hypothyroidism.	false
+4e1adc2b939dc18f0588dd4931f0926c09dfec91	Even in the era of congenital hypothyroidism screening mild and subclinical @PHENOTYPICFEATURE$ remains a relatively common complication of severe @DISEASE$.	false
+c053bfc1b1e44737e7f416672d0fb0b9c6d435ae	To the best of our knowledge, this is the first reported case of blepharophimosis @PHENOTYPICFEATURE$ epicanthus inversus syndrome with @DISEASE$ and brachydactyly.	false
+b79accda3af3275158f615948d62eed5b4538371	Differentiation between @DISEASE$ (FCS, type 1 hyperlipoproteinemia), a rare metabolic disorder, and the more common multifactorial severe hypertriglyceridemia (sHTG, type 5 @PHENOTYPICFEATURE$) is challenging because of their overlapping symptoms but important in patient management.	false
+557f0c2d3558c89a5a3b6c54b142c2bcf9c3f7b8	[Clustering of familial occurrence of @PHENOTYPICFEATURE$ and Pelgerscher @DISEASE$ anomaly].	false
+efa49461e2537ead0f1e3609810426cb077e6ad3	Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, @PHENOTYPICFEATURE$, dysarthria and developmental delay-@DISEASE$ features of Troyer syndrome-and a novel mutation in the SPG20 gene, which is also mutated in the Amish.	false
+1eaf852c124b779c47c1c68090233c542feac19d	The differential diagnoses include anencephaly with spinal retroflexion, Klippel-Fiel syndrome, nuchal @PHENOTYPICFEATURE$ such as teratoma, goiter, and lymphangioma and @DISEASE$.	false
+daea4c143d74f9e7909640e9eb6ae41f12289933	@DISEASE$ (PPRCA) is an unusual @PHENOTYPICFEATURE$, and its performance on optical coherence tomography angiography (OCTA) is unclear.	false
+54e2c90d73e4847f20170d5a22e1bc4fec704d2f	Unusual cause of childhood @PHENOTYPICFEATURE$: @DISEASE$.	false
+80897732651aafee7573eefe3b4eef856276f79f	A 12-year-old patient with @DISEASE$ (WAS) was referred because of recurrent @PHENOTYPICFEATURE$ and bloody stools.	false
+82c92e6a5242d98a3186adbbf9a661f2804b2dcd	Facial nerve bifurcation is important to recognize in patients undergoing evaluation for @PHENOTYPICFEATURE$ and other congenital @DISEASE$.	false
+28451042a9335877242153126685a7497a7299b5	Presence of @PHENOTYPICFEATURE$ with recurrent meningitis should alert clinician for presence of middle and inner @DISEASE$.	false
+7b75f1022e1020c898a01eee3ccd731ce164a27d	LNSS can be associated with @PHENOTYPICFEATURE$ and inner @DISEASE$.	false
+c2dc47cf043a09a9115f338442b962c41ee421de	A three-year-old boy with coloboma, heart defects, atresia of nasal choanae, retarded growth, genital abnormalities, ear defects and @PHENOTYPICFEATURE$ was fitted with a bone-anchored hearing aid for severe conductive hearing loss and congenital @DISEASE$.	false
+6c447ed0795a707ac3c083e0c2043d140fb629ee	A three-year-old boy with coloboma, @PHENOTYPICFEATURE$, atresia of nasal choanae, retarded growth, genital abnormalities, ear defects and deafness was fitted with a bone-anchored hearing aid for severe conductive hearing loss and congenital @DISEASE$.	false
+369057a91040d85c1efc2e453af35a96ee38ba37	Universal newborn hearing screening programs should prompt a diagnostic work-up even in the case of unilateral @PHENOTYPICFEATURE$, in order to prevent inner @DISEASE$-related meningitis.	false
+253367ffe3896e5acd89537712aabc8a0c6d4164	The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral @PHENOTYPICFEATURE$ associated with inner @DISEASE$.	false
+909c993420c3503f161188840b5907775f3ad8a5	De novo variants in GREB1L are associated with non-syndromic inner @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1b6077a1afbc62f8aa15f39a06d1926c64ced4c2	Slc26a4-null mice are profoundly @PHENOTYPICFEATURE$, with severe inner @DISEASE$ and degenerative changes that do not model the less severe human phenotype.	false
+067e55a285657643674f1c6d6536d54b009d3d5d	To assess the hearing status of trisomy 21 patients by analyzing electrophysiological and radiological findings of any correlation between @PHENOTYPICFEATURE$ and major or minor inner @DISEASE$.	false
+9cf88ba7a819db529af1d6e2b37cf314842b48de	Surgeries of patients with congenital @DISEASE$ and aural atresia should be carefully designed according to the three-dimensional reconstruction of multislice spiral CT reconstruction, which can provide information about surgery approach and @PHENOTYPICFEATURE$.	false
+63bf817eb83da751a0f5a32f200697118ce3db62	We describe 3 young children with @DISEASE$, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete @PHENOTYPICFEATURE$ of fingers IV and V.	false
+3b48e4836bebdb97c1bfcbdaa339da83eb8ef759	@DISEASE$ associated with complete @PHENOTYPICFEATURE$.	false
+14d680373b9f215c55e080e1445486cd66b73cbb	Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (@DISEASE$ and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and @PHENOTYPICFEATURE$-jaw tumour syndrome).	false
+8313fba0f71e5be06f9b3c3ed9e9f1e71fd7a666	Defects in this splicing pathway have recently been linked to human disease, including a severe developmental disorder encompassing brain and @PHENOTYPICFEATURE$ known as Taybi-Linder syndrome or microcephalic osteodysplastic primordial dwarfism 1, and a hereditary intestinal polyposis condition, @DISEASE$.	false
+e629a6ddb5e9b9ee15cf765cb1600caecf27d265	Patients with @PHENOTYPICFEATURE$ were divided according to clinical, histologic, and immunofluorescence findings into those with @DISEASE$ syndrome (12 patients) and those with classic pemphigus vulgaris or pemphigus foliaceus with neoplasia (8 patients).	false
+662a9ebd78f36e4ef7fd98e836b2703a5e1a707c	Patients with neoplasia were divided according to clinical, histologic, and immunofluorescence findings into those with @DISEASE$ syndrome (12 patients) and those with classic pemphigus vulgaris or pemphigus foliaceus with @PHENOTYPICFEATURE$ (8 patients).	false
+11200632c71da813a4c18987958da2d7e41b1e5d	Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), @PHENOTYPICFEATURE$ and dyslipidemia caused by citrin deficiency (FTTDCD) and @DISEASE$ (CTLN2).	false
+2d619e1aa7557dd03710589d37855b58a257f767	Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), @PHENOTYPICFEATURE$ and dyslipidemia (FTTDCD), and @DISEASE$ (CTLN2).	false
+4f08764381eb7906d2265709682f1d95fda2047a	Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, @PHENOTYPICFEATURE$ and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in @DISEASE$ (CTLN2) in adults.	false
+69a0e32f96c035907f299926da5422512120224e	Two patients display clinical phenotypes unusual for liver Phk deficiency, with dysfunction of the kidneys (@DISEASE$) or of the nervous system (seizures, delayed cognitive and speech abilities, @PHENOTYPICFEATURE$), respectively, in addition to liver glycogenosis.	false
+99b05584c4c025a6f669de7f87eb69378f0e7a1e	Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and @PHENOTYPICFEATURE$), bilateral sensorineural deafness, dementia, cataracts, and @DISEASE$, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features.	false
+d26030736aea31e8635ec42c39ec4ee3cb8746c9	All four patients had @PHENOTYPICFEATURE$ and speech impairment and three of them showed variable signs of @DISEASE$.	false
+120b19be4d1b9812e128f028e818e77b8a2be95c	Diagnosis of @DISEASE$ is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced @PHENOTYPICFEATURE$ and deafness.	false
+35139e44e7095388afdae5012c6e13d1dfe532ae	One patient developed a @DISEASE$ crisis, characterised by hypotension and @PHENOTYPICFEATURE$, before operation.	false
+74d7e0d46cdf48834fb21bccbe571cb4c0f3fee3	The 24-h urinary excretion of albumin and AAT were assessed in 52 patients, 29 with essential hypertension and 23 with secondary hypertension, caused by renovascular hypertension, adrenal @DISEASE$ and obturative @PHENOTYPICFEATURE$ syndrome.	false
+5c098c09793f86fb1f163e2fed4cdf2d2862373b	@DISEASE$ as a cause of @PHENOTYPICFEATURE$.	false
+e2ada9acfca7e38e145ae86b6ed250f3b2225a8a	Catecholamines cause the @PHENOTYPICFEATURE$ and hypercalcaemia in @DISEASE$ and in hyperthyroidism.	false
+e6c973eccf25394d55824be59958a6b7921116b5	The latter included two patients with @PHENOTYPICFEATURE$ and one with @DISEASE$.	false
+c07335ff51c9fc6052bb227d2af2039e6a8b2bad	Complete primary repair of @DISEASE$ is associated with detrusor underactivity type of @PHENOTYPICFEATURE$.	false
+9e8e265d6225dec2ec46cd4b624f2bffe5330fa1	Two patients had a @PHENOTYPICFEATURE$, two a "nonneurogenic" neurogenic bladder and three a @DISEASE$.	false
+eb5494f3e37ce7440ec109e76086d59cf6790c6a	The indications for continent urostomy included bladder tumour (45.5% of cases), complex vesicovaginal fistula (31%), @PHENOTYPICFEATURE$ (11%) and @DISEASE$ (7%).	false
+f4b5c4dd5596daf4477ab665eb79e371ceeabc47	The indications for continent urostomy included bladder @PHENOTYPICFEATURE$ (45.5% of cases), complex vesicovaginal fistula (31%), neurogenic bladder (11%) and @DISEASE$ (7%).	false
+8accdc11ed2c285b340e4e580e87f29940c864eb	@DISEASE$, @PHENOTYPICFEATURE$, radiation injury, and marked urethral dysfunction) or to facilitate catheterization.	false
+3a9e342d0908035352e8e6e689e664895b4ce5e4	Primary diagnoses included @DISEASE$, cloacal exstrophy, rhabdomyosarcoma and @PHENOTYPICFEATURE$.	false
+9595f59d6cf0676fa81dd5d523b732966a243baa	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including club foot, @PHENOTYPICFEATURE$, hydrocephalus, spina bifida/encephalocele, cleft lip, @DISEASE$ and imperforate anus.	false
+b3a98640d39931caae6729bef46f5af36f1c4589	From 1973 to 1986 we performed 107 such operations (41 for vesicovaginal fistula, 40 for bladder tumor, 26 for @DISEASE$, @PHENOTYPICFEATURE$ and miscellaneous).	false
+2cb4ef50ddde0f3f68e19418775dc35541732e71	Of the patients 82 presented with @PHENOTYPICFEATURE$, 40 with @DISEASE$, 3 each with tuberculosis and posterior urethral valves, and 1 with female hypospadias.	false
+e9cdce26934b8acd9c830d3b4c836c537e1d6ea9	Twenty-one patients (13 M, 8 F) underwent enterocystoplasty by different reason, @PHENOTYPICFEATURE$ (NB) (10 p), @DISEASE$ (7 p), cloaca exstrophy (3 p) and posterior urethral valves (PUV) (1 p) are presented.	false
+0a98fea2763f155e6555aba6f03b4f1dcb1a527b	Successful therapy in @DISEASE$ @PHENOTYPICFEATURE$-bearing mice suggests that complement-dependent cytotoxicity does not play a major role.	false
+43e11415b778735fb7fd1fb68a48e8b47f0bc9f6	Hemolytically active normal mouse serum and @DISEASE$ mouse serum were used to deposit complement (C) on P815 @PHENOTYPICFEATURE$ cells, in the absence of exogenous antibody, by an alternative pathway mechanism.	false
+929218bd20b13cad459d5c0ae899a3ae1c98c561	Families with children diagnosed with @PHENOTYPICFEATURE$ reported more profound QOL effects than families of children with @DISEASE$/ADHD or unaffected controls.	false
+b3e643c375f7dd25a6fe164b559b283c2b77e092	@PHENOTYPICFEATURE$ and dementia care in Asia-Taiwanese experiences: elders with dementia in two different adult day service (@DISEASE$) environments.	false
+fe7296b261b0ca37b6d5098bac0a65cc605594f5	Therefore, there is an urgent need to identify effective and safe pharmacological treatments for efficiently treating agitation and @PHENOTYPICFEATURE$ in @DISEASE$ and dementia.	false
+4f83ec4c924d8b84242bee7d332df32d2315c6fc	Phase two showed significant associations between cumulative exposures to thimerosal and the following types of NDs: unspecified developmental delay, tics, attention deficit disorder (@DISEASE$), language delay, speech delay, and @PHENOTYPICFEATURE$ in general.	false
+287810ff36843d7c805860ef2a445567b6c63d23	Phase two showed significant associations between cumulative exposures to thimerosal and the following types of NDs: unspecified developmental delay, tics, attention deficit disorder (@DISEASE$), @PHENOTYPICFEATURE$, speech delay, and neurodevelopmental delays in general.	false
+54e8c32d3bdfe6623639409ce4ad489bd81d4da0	Parents of boys with @DISEASE$ only, without the additional problem of hyperactivity or aggressive symptoms, reported the highest level of family functioning, and a larger percentage of parents whose child had @PHENOTYPICFEATURE$ or hyperactivity plus aggression reported extreme family functioning.	false
+70053b936f5b08fbe6a5cf4d14691073cc8e8f3f	Parents of boys with @DISEASE$ only, without the additional problem of hyperactivity or aggressive symptoms, reported the highest level of family functioning, and a larger percentage of parents whose child had hyperactivity or @PHENOTYPICFEATURE$ plus aggression reported extreme family functioning.	false
+0d0052de27d9f2680576f22b02f2a5938c550b6d	It seems that "soft" neurological signs with hyperactivity, inattention and @PHENOTYPICFEATURE$ may be early clinical signs of ADD-ADHD as 80% of the children with these clinical features developed @DISEASE$-ADHD during early school age.	false
+95f2250f95861d8c76853aceec5009e7262d9473	It seems that "soft" neurological signs with hyperactivity, inattention and @PHENOTYPICFEATURE$ may be early clinical signs of @DISEASE$-ADHD as 80% of the children with these clinical features developed ADD-ADHD during early school age.	false
+dfb06fec7a0a3bd0234b2a636d254b797c06221d	A score of 46 or more strongly suggests diagnosis of a @PHENOTYPICFEATURE$ disorder during infancy; (2) Brown's (1996) Attention Deficit Disorders Scale (@DISEASE$) is a 40-item self-report.	false
+ad8d937b25f5c03ea54a7bef58c1df10ffbcc253	Inattention, hyperactivity and @PHENOTYPICFEATURE$ at 2-4 years of age as a predictor for @DISEASE$-ADHD syndrome.	false
+118c03186730e9ae3b7d81afe14c097029430af0	Inattention, @PHENOTYPICFEATURE$ and speech delay at 2-4 years of age as a predictor for @DISEASE$-ADHD syndrome.	false
+5ee0f2a4306856e3aabf7d6de9f499bde451105f	Adenosine deaminase (@DISEASE$) deficiency is a disorder of the purine metabolism leading to combined immunodeficiency and systemic alterations, including @PHENOTYPICFEATURE$.	false
+df6916d14ce3e0566e6ad230525f5dcd1661f005	Toxic stress increased the incidence of @DISEASE$/ADHD and @PHENOTYPICFEATURE$ in both the preterm and full-term samples.	false
+bb6cd487b5b0d14584c9d10d279accf8944a5d05	Two molecularly distinct atypical teratoid/rhabdoid tumors (or @PHENOTYPICFEATURE$ components) occurring in an infant with @DISEASE$.	false
+32762adad28ef5c8050c4b7ea3367d74af19f5ec	Scrotal, gluteal, and @DISEASE$ @PHENOTYPICFEATURE$ and ecchymosis were observed on physical examination.	false
+c8385010e3ad22c008becc899036656d9aae3986	@DISEASE$ inflammation, @PHENOTYPICFEATURE$ and demyelination are the pathological hallmarks of ADEM.	false
+1fd82813e8202c66fd77cbfedb2dca0c3f19623c	Statistical analysis indicated a significant relationship between the severity of AP with diffuse parenchymal edema, periparenchymal plastering, and/or diffuse retroperitoneal free fluid accumulation, and @DISEASE$-pancreatic @PHENOTYPICFEATURE$.	false
+907f9e55757237a6abc346c08a05f72ec714b041	Statistical analysis indicated a significant relationship between the severity of AP with diffuse parenchymal @PHENOTYPICFEATURE$, periparenchymal plastering, and/or diffuse retroperitoneal free fluid accumulation, and @DISEASE$-pancreatic edema.	false
+2651d2aec6204e61e25f5724bebe1224d102a609	Similar results were obtained for the absolute areas of periarterial and @DISEASE$ @PHENOTYPICFEATURE$.	false
+e47857f81fb5cdb796520fe45f988c6e63553597	@DISEASE$-tumor @PHENOTYPICFEATURE$ was evident in 11 meningioma cases.	false
+76c89af47513440234c088b5a3a0654b697d486f	@DISEASE$ @PHENOTYPICFEATURE$ measured as changes in skin altitude was continuously recorded by means of infrared reflection.	false
+75b0ddf171b2fa613b05da2aa2afa71db8e3f918	No peribronchial and @DISEASE$-septal @PHENOTYPICFEATURE$ was observed.	false
+de747e69e0cf154d5a8d26fb51dd75c76168974f	About 30 % of the patients develope fistulae, fissures, abscesses and @DISEASE$ @PHENOTYPICFEATURE$.	false
+71a2a89b922f2bfe56c860037e38375d3e72267c	ICH has 3 main pathophysiological phases: arterial rupture and haematoma formation, haematoma enlargement and @DISEASE$-haematoma @PHENOTYPICFEATURE$.	false
+8318ba7a9cd687b37992441af962ad93e7df5cea	Glioblastoma patients often require chronic administration of steroids due to @DISEASE$-tumoral @PHENOTYPICFEATURE$.	false
+cdfe4518d0f14e651c161beb45d9020aaeab2ff2	The mutations of SLC25 carrier genes involved in other cellular functions cause carnitine/acylcarnitine carrier deficiency, @DISEASE$, aspartate/glutamate isoform 1 and 2 deficiencies, congenital Amish @PHENOTYPICFEATURE$, neuropathy with bilateral striatal necrosis, congenital sideroblastic anemia, neonatal epileptic encephalopathy, and citrate carrier deficiency; these disorders are characterized by specific metabolic dysfunctions depending on the role of the defective carrier in intermediary metabolism.	false
+0f9246abafdf31633d8e5d78818fd07255cf0f7a	Its etiology is not clear, but a number of factors are linked to its pathogenesis including: repetitive trauma, dorsal instability of the carpus, @DISEASE$, @PHENOTYPICFEATURE$, gout, and steroid use.	false
+b3045b7dd42cbd6aad20796eacf5b0f28fac8266	To investigate the spectrum and prevalence of @PHENOTYPICFEATURE$ among children with type 3 (chronic neuronopathic) @DISEASE$ (GD).	false
+a889fb737df12d025b246b6686733b3e7a6ea8da	Hyposmia and @PHENOTYPICFEATURE$ in @DISEASE$ patients and carriers.	false
+39f201f058f3dca8ace476a24f6eb7bc6fbfccb3	Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with @PHENOTYPICFEATURE$ and constipation, it was hypothesized that Filamin A mutations could be one cause of @DISEASE$.	false
+b4bb058a0278869aff4de85cba4bc6b9f59429c2	We describe a severely mentally retarded boy with a history of severe constipation, truncal hypotonia, @PHENOTYPICFEATURE$, fetal pads, and joint laxity, leading to an initial diagnosis of @DISEASE$ at the age of 3 years.	false
+17dbd3935311752b343f54167a6f6129f846e500	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, sudden infant death, developmental delay, and abnormalities of the cardiac, gastrointestinal, and central nervous systems.	false
+35ab4872d878d7d1749db73381cc9dfb646a609c	@DISEASE$ (FGS) is an X-linked disorder characterised by mental retardation, hypotonia, particular @PHENOTYPICFEATURE$, broad thumbs and halluces, anal anomalies, constipation, and abnormalities of the corpus callosum.	false
+51ec0071c1cea593ad493c2329256bec05e47732	However, the typical extrapulmonary manifestations of @DISEASE$, including relative @PHENOTYPICFEATURE$, hyponatremia, hypophosphatemia and diarrhea, were not present in the 6 patients.	false
+0d126f941ba9557fd30a373c0033e56dc24d6bbc	Features included two episodes of disease, dual or sequential infections with Legionella pneumophila and other pathogens; transient @PHENOTYPICFEATURE$ with erythromycin therapy, and @DISEASE$ with a pleural effusion but no pulmonary infiltrate.	false
+0be62394d46f8c9e909a609ea9a12829ee97fa96	Other conditions more rarely misdiagnosed as epilepsy include hypoglycemia, panic attacks, paroxysmal @PHENOTYPICFEATURE$, @DISEASE$ disorders, TIAs, migraines, and TGA.	false
+86cb86974814827065700a9bdc3adf811956f65a	Deficient insulin release causes hyperglycemia and diabetes, whereas excessive insulin release can give rise to serious metabolic disorders, such as @DISEASE$ (Persistent Hyperinsulinemic Hypoglycemia of Infancy, PHHI) and might also be closely associated with development of type 2 diabetes and @PHENOTYPICFEATURE$.	false
+44ad4f0bda292fe2b7c6d057df45ac63ee3cf175	An unusual @PHENOTYPICFEATURE$ of the pigment epithelium and retina simulating choroidal melanoma and @DISEASE$.	false
+a3297225bbaa04aec2d361be3ec49f1ce6d41eb0	Although the lesions simulated @DISEASE$ clinically, each patient had ocular and systemic findings of TSC, supporting the diagnosis of astrocytic @PHENOTYPICFEATURE$.	false
+8c2f1c6b041620bf98d314a27b04b82f70b69d4b	Retinal tumors such as small @DISEASE$, astrocytic @PHENOTYPICFEATURE$, and hemangioblastoma arose abruptly adjacent to normal retina.	false
+4208aad7f0a0a29e3d720c89cdbdededadd3beb0	Performed ultrasound that remained a doubt with the following diagnostic hypotheses: persistent hiperplastic primary vitreous, granuloma (toxocara), astrocytic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+93926f4accd47a84a34992afc8924828a88ec591	The most important differential diagnosis that must excluded is @DISEASE$, which can closely resemble astrocytic @PHENOTYPICFEATURE$.	false
+08c85f2f8ffc91650cbf83fd3705aa3a1bfd00bf	Solitary astrocytic @PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+288a22d3777d5f6ccf615e1ac3bcf2d83b28336d	Fine-needle aspiration biopsy is diagnostically useful in unusual cases where the differential diagnosis between @DISEASE$ and astrocytic @PHENOTYPICFEATURE$ is difficult.	false
+ff8d2ed23432bd8bfffe67ea8b494870a009dfcb	Presumed solitary circumscribed retinal astrocytic proliferation appears to be a unique retinal lesion of adulthood that resembles astrocytic @PHENOTYPICFEATURE$ or @DISEASE$ but displays distinctive ophthalmoscopic features.	false
+44ad4f0bda292fe2b7c6d057df45ac63ee3cf175	An unusual @PHENOTYPICFEATURE$ of the pigment epithelium and retina simulating choroidal melanoma and @DISEASE$.	false
+44bb8f552f1aaed5f8631c40d2bc599626e9bac8	Physical examination and imaging studies of the retinal masses could not differentiate between @DISEASE$, @PHENOTYPICFEATURE$, or persistent hyperplastic primary vitreous.	false
+e0fdd0fc433885b39c0ba3d6de04f3d3a870d7bb	Sufficient evidence suggest that @PHENOTYPICFEATURE$ is related with a novel form of glomerulopathy @DISEASE$ obesity-related glomerulopathy (ORG) among adults, children, and adolescents.	false
+1bda1a6fd636ca9e6c06120cdd46b21e4a114e39	Sufficient evidence suggest that obesity is related with a novel form of glomerulopathy @DISEASE$ @PHENOTYPICFEATURE$-related glomerulopathy (ORG) among adults, children, and adolescents.	false
+243b68359f35f7c6f9c1b96b550fabfa207f11c8	Already, in those old days a physician from India @DISEASE$ Sushrut described diabetes mellitus as a disease characterised by the passage of large amounts of urine and its "honey-like" taste and, noteworthy, as a disease that is mainly associated with @PHENOTYPICFEATURE$ and a sedentary lifestyle, recommending physical activity as the primary treatment option.	false
+e64299c8c2e1704b4cdf54371dafbc145b6927e4	However, even in the absence of the hyperglycaemic state which characterizes type 2 diabetic patients, non diabetic individuals with a specific form of @PHENOTYPICFEATURE$, @DISEASE$ abdominal obesity, often show clustering metabolic abnormalities which include high triglyceride levels, increased apolipoprotein B, small dense low density lipoproteins and decreased high density lipoproteins-cholesterol levels, a hyperinsulinemic-insulin resistant state, alterations in coagulation factors as well as an inflammatory profile.	false
+55c217e4738eb6d611e80a95cb17f2bf68b274c0	This article reviews the eating disorders that occur in male children and teenagers, including anorexia nervosa, bulimia nervosa, binge eating disorder, a subtype of body dysmorphic disorder @DISEASE$ muscle dysmorphobia, and @PHENOTYPICFEATURE$.	false
+9676870d8a9f009a237784ab33b0ffd95f3ab989	The literature review shows the necessary evidence to introduce a new model of @PHENOTYPICFEATURE$ @DISEASE$ edorexia, and raise issues to be resolved in future research oriented from a multidisciplinary perspective.	false
+47aa8e6e85a1d6680102ea0fe94cc8f7880cbb54	@DISEASE$ early neonatal @PHENOTYPICFEATURE$ occurs in 24-48 h of life and it is usually observed in premature infants or infants of diabetic mothers.	false
+d93749e09dce1a3eb6b809673f3b52954a420a1b	However, even in the absence of the hyperglycaemic state which characterizes type 2 diabetic patients, non diabetic individuals with a specific form of @PHENOTYPICFEATURE$, @DISEASE$ abdominal obesity, often show clustering metabolic abnormalities which include high triglyceride levels, increased apolipoprotein B, small dense low dendity lipoproteins and decreased high density lipoproteins-cholesterol levels, a hyperinsulinemic-insulin resistant state, alterations in coagulation factors as well as an inflammatory profile.	false
+62d6098a2be0d95088cfa761dab48804d38eea4a	@PHENOTYPICFEATURE$, deafness, and progeroid features, with concomitant lipodystrophy, define a multisystem disorder @DISEASE$ MDPL syndrome.	false
+01a2852282a6b3234129250c2f4cd61a5f342ce1	Mandibular hypoplasia, @PHENOTYPICFEATURE$, and progeroid features, with concomitant lipodystrophy, define a multisystem disorder @DISEASE$ MDPL syndrome.	false
+4e52a919c6ccb3592f78f0c1528e2d6e10158770	These included seizures, @PHENOTYPICFEATURE$, @DISEASE$, Schilder's disease, cerebral palsy, hemiparkinsonism, Wilson's disease, vasculitis, spinocerebellar ataxia, motor neuron disease, nutritional amblyopia, tapetoretinal degeneration, catatonic schizophrenia, and malingering, among others.	false
+c10d177f354667fcbb20914dc855295ae8126f81	The diseases that required transplantation included @PHENOTYPICFEATURE$ (BA) (45%), metabolic liver disease (@DISEASE$) (9.9%), acute hepatic failure (6.9%), and Alagille's syndrome (AS) (5.4%).	false
+6f7c2fbd5089a321723343456a614ce12f2fb713	Duck-origin goose parvovirus (D-GPV) is the causative agent of beak atrophy and dwarfism syndrome (@DISEASE$), characterized by growth retardation, @PHENOTYPICFEATURE$, and persistent diarrhea.	false
+0dbc34f8f596ce458130d5d9ed75ee7020aabdf4	Our studies unveil the role of @DISEASE$ in the survival and self-renewal of CSC and propose BAD not only as an attractive target for cancer therapy but also as a marker of @PHENOTYPICFEATURE$ progression.	false
+9bfccad6902dbc7a21f722513c7e98f9d58b3274	Our studies unveil the role of BAD in the survival and self-renewal of CSC and propose @DISEASE$ not only as an attractive target for cancer therapy but also as a marker of @PHENOTYPICFEATURE$ progression.	false
+9ffe779b7be884d6a90fdd23f7a9797b3e855511	Thus, kinases that phosphorylate @DISEASE$ are plausible therapeutic targets; while monitoring BAD phosphorylation could be used to predict @PHENOTYPICFEATURE$ response to treatments.	false
+e36679437eeaf89e071118761cf8677135df3889	Over-expression of BCL-XL or knock down of BAX, BIM, @DISEASE$ or apoptosis inducing factor (AIF) protected @PHENOTYPICFEATURE$ cells.	false
+78588e78a98c1d2a2db9a5437ae97c05caf77991	Additionally, STK33 knockdown also inhibited @PHENOTYPICFEATURE$ growth and RPS6/@DISEASE$ activity in mice models.	false
+67ac1b75bd793e96200127921f3362b6a2f4de0f	Expression of BAD and @DISEASE$ phosphorylation patterns have been shown to influence @PHENOTYPICFEATURE$ initiation and progression and play a predictive role in disease prognosis, drug response and chemosensitivity in various cancers.	false
+e11909613fdc512328bd4d8e0c95d311c2d79b30	Expression of @DISEASE$ and BAD phosphorylation patterns have been shown to influence @PHENOTYPICFEATURE$ initiation and progression and play a predictive role in disease prognosis, drug response and chemosensitivity in various cancers.	false
+5ae9bc3adaf7bf89cd2e1f60a2f4dd55ffffdb8d	In addition, we also identified a positive correlation between @DISEASE$ expression and disease stage in prostate cancer, suggesting a role of BAD in @PHENOTYPICFEATURE$ advancement.	false
+f1654bef52665926aaa7a9402fe3ed588df02a6c	In addition, we also identified a positive correlation between BAD expression and disease stage in prostate cancer, suggesting a role of @DISEASE$ in @PHENOTYPICFEATURE$ advancement.	false
+fc24152df7cbd23ca854eae9659c4e5e748056a8	This model identifies a non-canonical role for @DISEASE$ and reconciles BAD-mediated @PHENOTYPICFEATURE$ growth with favorable outcomes in BAD-high breast cancer patients.	false
+586c678d9bcb03509e4285f78a50d1ec9a04d118	This model identifies a non-canonical role for BAD and reconciles BAD-mediated @PHENOTYPICFEATURE$ growth with favorable outcomes in @DISEASE$-high breast cancer patients.	false
+3e4954837662d4fdda9242ad1362ea9c5bc98004	Hence, we report a site-specific inhibitor of @DISEASE$ phosphorylation with efficacy in @PHENOTYPICFEATURE$ models.	false
+5fc9b6d38157b9ec06a036a8e088918ab8b3c695	We have partially purified IMPDH from @PHENOTYPICFEATURE$ cells and have examined the kinetics of inhibition of IMPDH by @DISEASE$.	false
+f94934810b990d9e6883d431fac7b8f5f30561a7	Three risk patterns of miscarriages were observed: a very high risk of miscarriages associated with gastroschisis, omphalocele, and @PHENOTYPICFEATURE$; only one miscarriage associated with spina bifida, and two or more miscarriages associated with @DISEASE$.	false
+3a3ddfc9bef8d7ed2366560c640d9f38d3a3b64e	CONCLUSION: The prenatal detection of intrauterine growth restriction, @DISEASE$ and @PHENOTYPICFEATURE$ should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.	false
+f5127fe5ada72c89c5e431ee98f7e69c83d21091	We report a case in which intrauterine growth restriction, @DISEASE$ and @PHENOTYPICFEATURE$ were detected by prenatal ultrasound examination at 29 weeks of gestation.	false
+6c8a6ed9ad41d1bf1ebd68df87d38fb142eaba25	On the other hand, the mean age at diagnosis of children with sporadic @PHENOTYPICFEATURE$ and @DISEASE$ was younger than the mean age of patients with or without other congenital malformations.	false
+44c28eb34182b7cf061135811e33e6291cd40684	He made contributions to operations as varied as tonsillectomy, pyloromyotomy, and @DISEASE$ repair, and provided fundamental insights into the proper treatment of @PHENOTYPICFEATURE$, congenital dislocation of the hip, and cryptorchidism.	false
+6d7fb9f59fb876f519556419488ce3db4465af54	This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d9ad38bf62c984d66682f8649ab2a223de3e52d6	Incidence rate ratios per year for @DISEASE$, cryptorchidism, @PHENOTYPICFEATURE$, and gastroschisis were 1.00 (0.99-1.01), 0.99 (0.98-1.00), 0.98 (0.97-0.99), and 1.04 (1.04-1.07),	false
+c731c4c716ebef0b70aed4e3993515fa539c4662	Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital @DISEASE$ and @PHENOTYPICFEATURE$.	false
+787512a39baeb1b97cecfa3f0cbb897bc08483d1	In an initial global analysis, three of the 24 congenital anomaly groups studied (ie, @PHENOTYPICFEATURE$, multiple anomalies, and @DISEASE$) had a significantly higher incidence of allylestrenol use.	false
+439ef22468420f33566732f2917dea793ad836f5	Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, @PHENOTYPICFEATURE$, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including @DISEASE$ and cryptorchidism.	false
+8153592668115b914057577ef4650b2572713d8f	Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, @PHENOTYPICFEATURE$, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including @DISEASE$ and cryptorchidism.	false
+2eb80eb23ea52e9fb54645a3b6a9e188b0cfcb37	Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, @PHENOTYPICFEATURE$, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including @DISEASE$ and cryptorchidism.	false
+1b6d7492ee9e7c65d170df2ec4caaad218a2406c	The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: (i) craniofacial dysmorphia; (ii) delayed growth; (iii) @PHENOTYPICFEATURE$ or learning difficulties; (iv) cardiac malformations (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy); (v) cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid tumors and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. NCFC subsumes neurofibromatosis type1, @DISEASE$, LEOPARD syndrome, Noonan syndrome, Costello syndrome and (cardiofaciocutaneous CFC) syndrome.	false
+5947f6339d89e5551a1941ca1a4cdd028543d09a	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and @DISEASE$ (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/@PHENOTYPICFEATURE$, and tumor predisposition.	false
+31d0917c1f59bc63f46792ea171f1fe2d378db70	Unlabeled serious reactions were found (17.4 %), including @PHENOTYPICFEATURE$, vasculitis or purpura with sorafenib or sunitinib and @DISEASE$ with imatinib.	false
+5788adeb4b6ba19722b665f2267938f469baffa2	@PHENOTYPICFEATURE$ is rarely the presenting manifestation of @DISEASE$.	false
+569fbb0ddb9c5a8224dc51390b077eac2808dad6	Hematologic disease (@PHENOTYPICFEATURE$ and @DISEASE$) was diagnosed in 482/1190 (40.5%) and metastases in 708/1190 (59.5%) cases.	false
+eb3a6b243b38e63cd868fe03fa77dd0163cdd948	We present a patient whose cause of @PHENOTYPICFEATURE$ was primary and isolated bilateral renal manifestation of centrocytic @DISEASE$.	false
+93b048d17f167a0091456ef29dcc010273539889	Five Non Hodgkin's Lymphoma (@DISEASE$) @PHENOTYPICFEATURE$ specimens were xenografted to nude mice.	false
+eff8374115a0a363c0f69feca9793c77ce54a7cf	Five @DISEASE$ (NHL) @PHENOTYPICFEATURE$ specimens were xenografted to nude mice.	false
+b8b57f6a1dda7322ebd80bb65fd04627e08e996c	Rapidly progressive @PHENOTYPICFEATURE$ in a patient with extranodal @DISEASE$.	false
+66cbd3df6f68f7460e80d4ee0727f0cda80cab34	We report a case of crescentic glomerulonephritis and @PHENOTYPICFEATURE$ which preceded the diagnosis of @DISEASE$.	false
+217cd1251b9fa61f93aa3cabdd0ad9a0768018fe	A case of @DISEASE$ presenting primarily with @PHENOTYPICFEATURE$.	false
+5da5a0e330aa6315d4a943c10f9240dd9032a31a	High cytokine expression and reduced ovarian reserve in patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+6eba70c74273d3d9a391fc3f934fc7a822b9d4d7	Congenital @PHENOTYPICFEATURE$, Williams Syndrome and @DISEASE$ all occur separately at low incidence, so their simultaneous presence in the same patient is exceptional.	false
+e655d6b9acfcb3df1bad06a602108944ada477aa	SMR due to infection, @PHENOTYPICFEATURE$, and @DISEASE$ rose with disease duration.	false
+c0c30ce1d73ee67d713a060c88620bab7576277e	There were 23 cases of @DISEASE$ (PML), 8 of toxoplasmosis (toxo), 3 of herpes simplex virus, 26 of lymphoma, 3 of HIV encephalitis, 1 of melanoma, 1 of @PHENOTYPICFEATURE$ and 10 of nonspecific changes (paraffin section).	false
+7fd880ef1fdd1b3c5ce8a603bdd869979d2aa1cf	We also provide an overview of the clinical findings in all @DISEASE$ patients reported to date and discuss the possible pathogenetic mechanism that may underlie this condition, including the role of LARP7 in @PHENOTYPICFEATURE$ susceptibility.	false
+b1746b11e496c4cda345622f7335281f48cb5ed5	Since thyroid cancer is rare among children and adolescents, we hypothesize that the LARP7 variants identified in our patient are responsible for both @DISEASE$ and @PHENOTYPICFEATURE$ susceptibility.	false
+3345b4e53c95fcf3564c1b01d9b1050937229be0	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with @DISEASE$ and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, deafness and @PHENOTYPICFEATURE$.	false
+716167e047edcb54986744cd141205456ab6db5f	Distinctive new form of @PHENOTYPICFEATURE$ with severe metaphyseal changes similar to @DISEASE$.	false
+5ade584e8a3ef5ea14ed1ada44f0070ced46c84b	ECHO failed to detect 8 @PHENOTYPICFEATURE$ with 2/8 in @DISEASE$/8 in LCX and 5/8 in RCA, and those included 4 small aneurysms.	false
+c15976ba0da5c379a8aaeed72a142b6ad037c9d0	@DISEASE$ (SMMD) is an autosomal recessive skeletal dysplasia, characterized by @PHENOTYPICFEATURE$ with a short and stiff neck and trunk.	false
+6eccb8887860f01c796e7f7b23f68db5d321d977	However, ischemic brain tissue changes such as cytotoxic @PHENOTYPICFEATURE$, in which cellular swelling decreases the fractional volume of the extracellular space, would be expected to significantly alter the distribution of neuroprotective agents delivered by @DISEASE$.	false
+26fcb92ef9c9ee58954b4fda2e380b19897d7cc6	We report on a 27-month-old Caucasian girl with @DISEASE$, pre- and postnatal growth retardation, @PHENOTYPICFEATURE$, hypoplasia of the posterior corpus callosum, photophobia, and aberrant calcium homeostasis.	false
+334cb6232c35021c957451853d52c3e6f36d5ca5	In this study the scientific literature on cumulative effective dose (@DISEASE$) of radiation accrued from medical imaging among specific cohorts of paediatric, non-oncologic chronic patients (inflammatory bowel disease, cystic fibrosis, congenital heart disease, shunt-treated hydrocephalus, hemophilia, @PHENOTYPICFEATURE$) was systematically reviewed.	false
+604d0d0809d6fb5510757d37b5771e81fe8d576b	While this phenotype has some resemblance to @DISEASE$, the radiographic and @PHENOTYPICFEATURE$ are different.	false
+9bf92523d2cdeca51915803a408f6076752b2be6	@PHENOTYPICFEATURE$ with narrow thorax, proximal limb shortness, and short fingers are typical of @DISEASE$ and ATD-JS.	false
+8c7a709343960f2daaa0c17abb6cbd4deac1b907	To investigate effects of local tissue pathology and associated @PHENOTYPICFEATURE$ on infusate distribution, @DISEASE$ was applied to the hippocampi of rats that underwent electrically-induced, self-sustaining status epilepticus (SE), a prolonged seizure.	false
+e22b4ed7cd627ae52a79015a7079681ef8732127	In-hospital mortality, mean hospital length of stay, incidence of DVT and @PHENOTYPICFEATURE$ were also significantly higher in @DISEASE$ patients.	false
+411cb40cf7baca1450fd6d0694bab8fbbd9e45a0	After further investigation, a diagnosis of @DISEASE$ with bilateral pneumonia and @PHENOTYPICFEATURE$ was made.	false
+3fbb83fdddbf36e4c9806149a2e295b04ccc61e3	After further investigation, a diagnosis of @DISEASE$ with bilateral @PHENOTYPICFEATURE$ and generalized tonic clonic seizures was made.	false
+1cb439f8b9d1961264d75d5b747f3f55f3c30d39	In children with @DISEASE$, @PHENOTYPICFEATURE$ and hypoplasia of the thymus in combination it is estimated that chromosome 22q11 deletion is present in almost 100%.	false
+cdef35f60da0769fb225a07cde1b32559417421f	Uterus size and ovarian morphology in women with @DISEASE$, @PHENOTYPICFEATURE$ and hypopituitarism.	false
+9eb23e47253ae6fb234a6a7b0fa24ec9054e3665	Three cases of panhypopituitarism and five of @DISEASE$ which occurred following previous external irradiation of @PHENOTYPICFEATURE$ distant from the adenohypophysis are described.	false
+14ca531ff49f6b7a465cd802635f102df3518b81	These observations suggest that severe @DISEASE$ does not protect completely from development of @PHENOTYPICFEATURE$.	false
+15a0e34f0c2dd688964ee44a6bd1763ce0968a32	Here, we report five cases of adult patients with severe and congenital isolated GH deficiency (@DISEASE$) due to the c.57+1G>A mutation in the GHRH receptor gene, who developed @PHENOTYPICFEATURE$.	false
+a5bffad9e27812a880741850dd4f52984c0c3c7c	Here, we report five cases of adult patients with severe and @DISEASE$ (IGHD) due to the c.57+1G>A mutation in the GHRH receptor gene, who developed @PHENOTYPICFEATURE$.	false
+83d341b30d774897fac7ff7fa0751e1eb81aee60	These included two patients with @PHENOTYPICFEATURE$ of the hypothalamus, as well as six with idiopathic @DISEASE$ or panhypopituitarism.	false
+75c2a8e861c0a637938d0aa3026d9a65007b45a0	The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with @PHENOTYPICFEATURE$); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (IGHD) and (7) GH1 (@DISEASE$).	false
+59405d2b5335601a41c9cb3bd4d0271bea3f5463	The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with @PHENOTYPICFEATURE$); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (@DISEASE$) and (7) GH1 (IGHD).	false
+9def21b2c2ba4eca32754bea32ed22fa18e8eec8	The examples given include endocrine-related tumours (pituitary @PHENOTYPICFEATURE$, cancers of the thyroid, prostate, ovary and breast, and insulinoma), @DISEASE$, and Frasier syndrome.	false
+a9ffebc99f6cad6820ee1e7cb07a5823ab162c03	The examples given include endocrine-related @PHENOTYPICFEATURE$ (pituitary tumours, cancers of the thyroid, prostate, ovary and breast, and insulinoma), @DISEASE$, and Frasier syndrome.	false
+09f15aae2d4df7df7a869ee716d2073af92ee02f	We identified one heterozygous 310-kb deletion of the PAX6 enhancer region in one patient showing isolated GH deficiency (@DISEASE$), @PHENOTYPICFEATURE$, and optic disc cupping.	false
+ce012e7750a9cb1c89d769c3cb5978121ba4988d	To assess a possible interface between GH and reproductive axes in determining the uterus size, we retrospectively evaluated 58 pelvic ultrasound scans in adult women with either @DISEASE$ (GHD; n = 12), @PHENOTYPICFEATURE$ (HH; n = 24) or hypopituitarism (HP; n = 22) of prepubertal onset.	false
+fc413de971ab0d012994b74f93059ce2d919ba21	On the contrary, purely functional abnormality is suggested in most patients with @DISEASE$, @PHENOTYPICFEATURE$, and precocious puberty with later onset of symptoms.	false
+9fd58720f5b8a0bfeae5822c42dd053357505891	PRES is associated with various clinical manifestations, like, seizures, @PHENOTYPICFEATURE$, headaches, vomiting altered mental status and @DISEASE$ focal neurological deficits.	false
+35871a931255f8f5171391fc1398174347dd49ae	Aquadynia (water-related cutaneous @PHENOTYPICFEATURE$) is a very @DISEASE$ disorder, recently described.	false
+9779456b9528d3e70524ec966ce6cdbc1203d505	Brachymetatarsia is a @DISEASE$ @PHENOTYPICFEATURE$ caused by the premature closure of the metatarsal physis.	false
+0b5b1baf10c5d36fcbb805ae3729eb464146c82c	It is well known that @PHENOTYPICFEATURE$ @DISEASE$ occurs after middle ear surgery.	false
+a14b213147aed6c5569274179d7ad5e630fdc209	Coloboma can be associated with @PHENOTYPICFEATURE$ frequently and macrophtalmia @DISEASE$.	false
+fb2fddf03bb080d6da9491a538569d40aedebffb	Deficient subjects had mild @PHENOTYPICFEATURE$ and hemolytic crisis @DISEASE$ occurred.	false
+73191dfa2a4659a3c11e3ddb74cd9d6062b3b674	Highly sensitive measurements of disease progression in @DISEASE$ disorders: Developing and validating a multimodal model of @PHENOTYPICFEATURE$ in Stargardt disease.	false
+19c26925734d1d33fefd3e2fefb62980df1e656c	The initial differential diagnosis of red eye, which includes iritis, acute @PHENOTYPICFEATURE$, keratitis and corneal ulcer, and @DISEASE$ disorders, must be reexamined.	false
+9c2a11678d56da55d82ed9758b8e2785810215cc	While antithyroid drugs have been linked to MPO-ANCA-associated small-vessel vasculitis, @PHENOTYPICFEATURE$ @DISEASE$ was noted.	false
+2b209ada2df3800cff6b44a9e53b54e1dca11e2c	@PHENOTYPICFEATURE$ occurs because of optic nerve compromise, and more @DISEASE$ retinal dysfunction (which may be a part of a primary neurodegeneration).	false
+5cef25cd6cf0c3325bee942aef8088bbc36cce9b	Beside @PHENOTYPICFEATURE$, botulinum neurotoxin is also highly valued for the treatment of sialorrhea affecting patients with @DISEASE$, cerebral palsy, amyotrophic lateral sclerosis, motor neuron disease, and other neurologic conditions.	false
+441f23b0659499ee4074f622e6d2c11046404193	Other conditions associated with @DISEASE$, which will not be reviewed here, but may benefit from botulinum toxin treatment include anterocollis (also known as dropped head syndrome), @PHENOTYPICFEATURE$, seborrhea and overactive bladder.	false
+c2c11ac1bcf6b929b5d7d110f0640ca02c02fcc2	Peri-lead @PHENOTYPICFEATURE$ after deep brain stimulation surgery for @DISEASE$: a prospective magnetic resonance imaging study.	false
+78d7da2d65fe28b11d23e69f1f4c224be087b609	BACKGROUND @PHENOTYPICFEATURE$ has been reported in patients with @DISEASE$ (PD).	false
+47e71bbe44740576431d8b11f1d64685e488b571	Elevated levels of homocysteine are correlated with heart disease, Alzheimer's and @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a55d2ff589f58575ad1537d60eceaaf3b7c9aecc	In women this was the case for @DISEASE$, morning stiffness, low vision, heart failure, @PHENOTYPICFEATURE$, diabetes, radiological osteoarthritis, stroke, COPD, osteoporosis, and fractures of the lower limbs, in that order.	false
+6098fa6b1878712bebdd22e45301fbaf498233a8	Sudden bilateral corneal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+4fa5f8af80c791bd5deb161e63880f6be95f6863	Mitochondria are essential cellular organelles for generation of energy and their dysfunction may cause diabetes, @DISEASE$ and multi-systemic failure marked by @PHENOTYPICFEATURE$, gastrointestinal problems, lactic acidosis and early lethality.	false
+aa14910ac021671ec0db0dfc21fbbc2f5adf2782	Risk factors for somnolence, @PHENOTYPICFEATURE$, and hallucinations in early @DISEASE$.	false
+4efccbdc0102fc0a6d5fb9970f3343116189adbe	[Low dose pergolide induced systemic @PHENOTYPICFEATURE$ and pleural effusion in a patient with @DISEASE$].	false
+8d5e60e5da6a152e1e063dd37407a2f0f6599f0c	Diffuse alterations in grey and white matter associated with @PHENOTYPICFEATURE$ in @DISEASE$: evidence from a multimodal approach.	false
+8e01c36d2827053daee8c487406e5d5feeb4239d	@PHENOTYPICFEATURE$ in @DISEASE$ subjects is associated with diffuse brain anomalies in the grey matter (verbal skills with BA44 and BA20 in the right hemisphere; perceptual skills with BA5, 37, 20, 21, 42 in the left hemisphere) and white matter connectivity (verbal skills with alterations in the fronto-occipital fasciculus and with the inferior-longitudinal fasciculus; perceptual skills with the arcuate fasciculus, limbic and ponto-cerebellar fasciculus; memory skills with the arcuate fasciculus; executive functions with the anterior cingulated and arcuate fasciculus).	false
+128653a452fffd3a0eb1ed036756d01f46e370fd	Patients with @DISEASE$ (mucopolysaccharidosis II) present with @PHENOTYPICFEATURE$ including short stature as well as CNS and visceral organ involvement.	false
+b2aaa14a1cb6e4b34334a3b236af37a7aa976a7a	The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to cholesteatoma, 3 cases due to chronic otitis media, 3 cases due to @DISEASE$, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to @PHENOTYPICFEATURE$.	false
+575a3103942da973329aba69d8243f6536b1d021	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6514a0241b67d6e4689a49385c7113a992a8cb6d	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+97dbb09739b9a11988328526d454ef0ecaaca8d4	To study the character of facial nerve palsy due to four different auris diseases including chronic otitis media, @DISEASE$, @PHENOTYPICFEATURE$ and physical or chemical factors, and to discuss the principles of the surgical management of otogenic facial nerve palsy.	false
+251ca5e7ea66e2e56244d082d575762652b2a07a	@DISEASE$ (CAKUT) are a frequent cause of @PHENOTYPICFEATURE$ in children, and their detection in utero is now common with fetal screening ultrasonography.	false
+7c3f0a2dfe759c2bf8e33ec341534701c35fe388	The high prevalence of CHD with @DISEASE$ (CAKUT) observed in mice was also corroborated with clinical studies that showed 20-30% of CHD patients have @PHENOTYPICFEATURE$.	false
+9f57853351960fec551cb417afca026aea82d991	This article is a comprehensive review of the development of kidneys, types of acro-renal syndromes, @DISEASE$ (CAKUT), syndromes associated with combined limb and @PHENOTYPICFEATURE$, and anomalies associated with URA.	false
+240bf1893c69bd2e120ae922838aa9afd6faf6a0	Because of these @PHENOTYPICFEATURE$, HNF1beta is classified as a CAKUT (@DISEASE$) gene.	false
+a3d8c66d1d814a90abee9d43bbbde09f3111a7f5	Public health records and other evidence were reviewed to assess the recent trends in infant @PHENOTYPICFEATURE$, the @DISEASE$ (CAKUT), and the sex ratio of these disorders.	false
+d129a742a6ecfe7374359918dff9762c4b4b856c	If chronic or terminal @PHENOTYPICFEATURE$ ensues in childhood or even in early infancy, however, improved medical care has led to encouraging results, ultimately influencing the motivation in the care of children with @DISEASE$.	false
+ae8a15ea0e66d7b515e1a48eb3543d261a733ffd	The treatment of brain tumors in childhood is frequently complicated by @PHENOTYPICFEATURE$ with a high proportion of irradiation (Irr)-induced GH deficiency (GHD) resulting in reduced adult final height (@DISEASE$) even after GH therapy (GHT).	false
+c7ae192711be6f6771dc57fb95705ceae4599119	Standardized and quantified muscle stretch reflexes, cutaneous reflexes, and developmental (primitive) reflexes were studied in normal older adults, in individuals with mild @PHENOTYPICFEATURE$, and in patients with AD, in all clinical severity stages as assessed with the Global Deterioration Scale (@DISEASE$), the Mini-Mental State Examination (MMSE), and the Functional Assessment Staging (FAST) procedure.	false
+b8387a05920b101dc765d9c20461a4312577a6c4	For all participants, we observed clinically significant reduction/improvement in @DISEASE$, PHS, and PSS scores and in symptoms (ESAS decrease ?1; means) of anxiety, fatigue, well-being, depression, appetite, @PHENOTYPICFEATURE$, and sleep.	false
+a68e2ed1acf49986cd03f986106f419a446c0425	This case report describes the evaluation and treatment of a 42-year-old male patient with @DISEASE$, @PHENOTYPICFEATURE$, undescended testis and maxillary odontogenic cyst (Jones Syndrome).	false
+4a6dd738b9e903b5e63b50c1df7800621b998455	@DISEASE$ and @PHENOTYPICFEATURE$ in a 42-year-old man with Jones syndrome.	false
+5f76b8ddc2ac6ea1a24eeb26f973841b8dd24b67	@DISEASE$ and @PHENOTYPICFEATURE$ in a 42-year-old man with Jones syndrome: Gingival fibromatosis is a rare disease, which can be seen as an isolated condition or associated with some uncommon syndromes.	false
+b514cea354e3f5f642bd3f7ceef2c4231086deff	All patients with MDS presented with @PHENOTYPICFEATURE$; additional cytopenias were present in patients with @DISEASE$ (RAEB), chronic myelomonocytic leukemia (CMML) and refractory anemia with excess blasts in transformation to ANLL (RAEB/Tr).	false
+3dc426bee389b6413def7a7820294cf3e93a505d	We report the case of a patient who developed @DISEASE$ and subsequently had @PHENOTYPICFEATURE$ and altered mental status after deceased donor liver transplantation.	false
+775b2acb39662559c3ee596de55db405f4f9d65f	A 46-year-old woman with Hodgkin's disease who underwent nonmyeloablative allogeneic stem cell transplantation developed cortical blindness, @PHENOTYPICFEATURE$, and left hemiparesis on day 100 while receiving tacrolimus (FK506) and prednisone for the treatment of graft-versus-host disease (@DISEASE$).	false
+f64e9b622dd78e7bc1e2b76b385f8c81043d1cef	This case suggests that anti-GAD antibody-associated @PHENOTYPICFEATURE$ may be a rare manifestation of chronic @DISEASE$.	false
+791fef84591aa38e1b3371f10318ff5e72beb338	We suggest that MTS may be a consequence of CSA neurotoxicity, which induces repeated @PHENOTYPICFEATURE$, associated with other predisposing conditions, as well as being a consequence of the underlying disease and its treatment, and of severe @DISEASE$ (GvHD).	false
+a595b15a6e7071b30e144e3db5cef6504c77ccb5	Patients with @DISEASE$ were included prospectively and those with @PHENOTYPICFEATURE$/obstruction, severe pancreatitis, and cytomegalovirus enterocolitis were excluded.	false
+389cda93a7fafb5013205d15b9119d38fc751040	During 20 days after @PHENOTYPICFEATURE$, 2 cases died due to infection and graft-versus-host disease (@DISEASE$), respectively.	false
+b6446706ed1cb2ea47c6b3c300e6d196598041f2	During 20 days after @PHENOTYPICFEATURE$, 2 cases died due to infection and @DISEASE$ (GVHD), respectively.	false
+e891727c1d2cffd6f9aa20b154e36928e81dfdba	@DISEASE$ may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal @PHENOTYPICFEATURE$.	false
+2dcfb8c129a8cdceac2309159fd815f6b9da27b4	@DISEASE$, a recessively inherited disorder, causes variable-but most often @PHENOTYPICFEATURE$, frequently accompanied by epilepsy and/or autism.	false
+e4b49eef588a91ffc35e42727aa454f60ed12009	@DISEASE$, which is associated with @PHENOTYPICFEATURE$ and autistic features, was discovered in 1984.	false
+3e5e29a4fdbf67f90e4ff7205c31cc5625140d15	Our preliminary results suggest that treatment with @DISEASE$ may improve ejaculatory control, thus ameliorating self-esteem and sexual performance in men with @PHENOTYPICFEATURE$.	false
+2d278d3b3a8c4588fe90e9403088bbaf485d85ce	Primary pulmonary hypertension, @PHENOTYPICFEATURE$, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-@DISEASE$?n syndrome or report of a new entity.	false
+5d792dfbacc1c3a924caf1f04dfe964eb76add74	Blount disease (tibia @DISEASE$): another skeletal disorder associated with childhood @PHENOTYPICFEATURE$.	false
+005d25410992ce7bc87ffed7a833d3293e707c82	The Yunis-@DISEASE$?n syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, @PHENOTYPICFEATURE$ and poor outcome.	false
+98e6562e114882184286062008a727f0e1010b3f	@PHENOTYPICFEATURE$ was associated with the presence of @DISEASE$.	false
+00a289e27c9efe4c9c768e17c7a2dced254088db	@DISEASE$ deformity, @PHENOTYPICFEATURE$, female incidence, patellar and medial femoral joint changes, and loss of range of motion are dominant in the clinical pictures of the gonarthritis.	false
+a28092ebb1b875e0b646234b2082d6ff9f0d8765	This review focuses on the physiological role of GRKs revealed by genetically modified animals but also develops the involvement of GRKs in human diseases as, @DISEASE$, @PHENOTYPICFEATURE$, hypertension or rhumatoid arthritis.	false
+beca7b792ca4846619a3fd876b9d1c68c4570c1c	X-linked @DISEASE$ and associated @PHENOTYPICFEATURE$, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.	false
+6506c181118092a7dfb18d1d1feea69279ebf474	PAX6 mutation in a family with aniridia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+772d8607aa8fb92af57f4e5e92846f39f49a3b6a	Overall, improvements in subscales of the Preschool Language Scale (@DISEASE$), Vineland Adaptive Behavior Scale (VABS), Aberrant Behavior Checklist (ABC) and @PHENOTYPICFEATURE$ symptoms questionnaire (ASQ) were seen.	false
+709ff2bcb34d21906ba5d06d187a7b44a9d7e5be	The reciprocal duplication leads to dup(17)(p11.2p11.2) associated with the Potocki-Lupski syndrome (@DISEASE$), a neurological disorder whose features include @PHENOTYPICFEATURE$.	false
+16b917ddb1140b4347a912d6ff6778b911c9a87d	We report this syndrome in a 12-year-old Malay girl with hemoglobin @DISEASE$, who underwent intensive transfusion and subsequently had headache, @PHENOTYPICFEATURE$, severe hypertension and seizures.	false
+2ef3c88d672dd5a0f079efb31fd9ce05df6d92e5	associated with both atherothrombotic cerebral infarction and intracerebral hemorrhage and that the -55C-->T polymorphism of the uncoupling protein 3 gene (UCP3), the -863C-->A polymorphism of the @PHENOTYPICFEATURE$ necrosis factor (TNF) gene (TNF), and the G-->A (Gly243Asp) polymorphism of the @DISEASE$-like gene (PKD1-like) were significantly associated with subarachnoid hemorrhage.	false
+5612cfb22f60d9ceefcd5209205fbba8831c0efc	Two main definable patterns of linguistic deficits tended to emerge that corresponded with identifiable patterns of @PHENOTYPICFEATURE$, and probably diseases: the S variant, which principally expresses the impact of a "deep" cognitive (semantic) disorder on language, and @DISEASE$/aph in which "peripheral" executive components play a significant role.	false
+f4c863abf178c22e94126cbfa2e7116ed774b9a0	Since @PHENOTYPICFEATURE$ and periventricular abnormal intensities are commonly seen in patients with idiopathic @DISEASE$ (INPH) on magnetic resonance imaging (MRI), dysfunction of white matter may have an important role in the mechanism causing symptoms of INPH.	false
+52b4f61517e8a259bf00d258535caf1cdd3e0710	The @DISEASE$ syndrome (NPH) is characterized by the presence of a clinical triad comprising dementia, motor @PHENOTYPICFEATURE$, and sphincter complaint, along with the presence of distinct dilatation of the ventricular system in the absence of major cortical atrophy.	false
+b704c66753db35c2462180a89f83ed817a850576	An uncommon malformative association is presented ((@PHENOTYPICFEATURE$, bilateral @DISEASE$, aplasia cutis) associated with neonatal gastrointestinal perforation.	false
+01f31d5108c2924171681587342b1d134f01d274	We present a patient with optic nerve hypoplasia, secondary strabismus, mild @PHENOTYPICFEATURE$, abnormal external ear helices, and @DISEASE$.	false
+9ed0e2455f2382fab7198877e7b6d84e100a5731	We report a case with @DISEASE$, polydactyly, @PHENOTYPICFEATURE$.	false
+31a4a0d606be4050d9594fb66345e26806aad283	The internal findings include oligopapillary @DISEASE$, severe @PHENOTYPICFEATURE$, cerebellar hypoplasia, pulmonary hypoplasia, hypoplastic larynx, and hypoplastic gallbladder.	false
+192e10b72d614b78bceb1748c7d8efc3f68d5ab9	Necropsy further revealed @PHENOTYPICFEATURE$, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with @DISEASE$, and kyphoscoliosis.	false
+af6d462f35f1978189ed6f0614e6325e83f31b8e	Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, @PHENOTYPICFEATURE$ (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, @DISEASE$, renal hypoplasia, and rarely renal cysts.	false
+7fd15ef3369f98edd988ab49933620ec233b31fc	Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, @PHENOTYPICFEATURE$ (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, @DISEASE$, and rarely renal cysts.	false
+e99a8aafc855e96be5e8fd1a30e19a0e6c11aad7	Internal @PHENOTYPICFEATURE$, microphthalmia, enlarged renal pelvis and @DISEASE$ were the main internal soft tissue anomalies.	false
+c9ce11bbfb3a60a4b26a1d5687c22b3003feebe2	A 10q24 microduplication was detected in two individuals with distal limb deficiencies associated with @PHENOTYPICFEATURE$, hearing problems and @DISEASE$.	false
+e23a0d3df38779d8178933e6a04fb42268b050b5	2,2,4-trimethyl-1,2-dihydroquinoline produced internal malformations (exencephale, @PHENOTYPICFEATURE$, anophthalmia, hydronephrosis and @DISEASE$) and skeletal malformations of ribs and vertebrae.	false
+fe7af7c330500e2f59b59e8e58ed9eaf6549d07f	A newborn infant is reported who had aganglionic megacolon, @DISEASE$, severe @PHENOTYPICFEATURE$, generalised hypotonia, and various dysmorphic features.	false
+2d4d60fa0bae5bfc89db53c5648dfee4c607efc4	FA deficiency (@DISEASE$) in maternal diet increases the risk of several defects among the progeny, especially, @PHENOTYPICFEATURE$.	false
+53ed3dacbb62098fde8a57c206bc91c581bb0f8e	Outcomes including all-cause mortality and the development of Fontan associated diseases (@DISEASE$, defined as protein losing enteropathy, cirrhosis, heart failure hospitalization, @PHENOTYPICFEATURE$, or thromboembolism) were assessed from longitudinal assessment.	false
+4adb21efed1efcbe91e21efc08821d83e3ddcf6b	We defined @DISEASE$ as cardiac thrombus, protein-losing enteropathy, @PHENOTYPICFEATURE$, and hospitalization for heart failure.	false
+f4960c8a0d208b1a14bc18af220752259f544d61	They contain a flavin adenine dinucleotide (@DISEASE$) as the cofactor and the enzyme in eukaryotes, except in yeast, is known to be allosterically regulated by S-adenosylmethionine. Some cardiovascular diseases, @PHENOTYPICFEATURE$, neuropsychiatric diseases and certain type of cancers in humans are associated with certain polymorphisms of MTHFR.	false
+6b99781e49dae0892beea5c960646b40c0b9eac5	Cases in this study involved diverse manifestations or complications, including encephalitis, @DISEASE$-like syndrome, meningitis, and @PHENOTYPICFEATURE$.	false
+152674d6286cdedf517a80d4429af0895d6894d4	In a small percentage of infants (aged 6 months to 3 years), HFMD was accompanied by acute neurological complications, such as serous meningitis, @DISEASE$-like syndrome (extremity pareses and muscle paralyses); brain stem encephalitis (myoclonic jerks, tremor, lethargy, swallowing and @PHENOTYPICFEATURE$, cardiopulmonary failure, pulmonary edema, shock, coma, death).	false
+542984ad96f281db7c35c95ef0f60f582b85e00b	In a small percentage of infants (aged 6 months to 3 years), HFMD was accompanied by acute neurological complications, such as serous meningitis, @DISEASE$-like syndrome (extremity pareses and muscle paralyses); brain stem encephalitis (myoclonic jerks, tremor, lethargy, swallowing and speech disorders, cardiopulmonary failure, @PHENOTYPICFEATURE$, shock, coma, death).	false
+4eb27a562664cc7f1e16fb8271bd848d17646b5c	Crude prevalence ratios (cases per 100,000) for others are 112 for neurological complications (including sciatica) of spondylosis, 15 each for @DISEASE$, motor neurone disease, development @PHENOTYPICFEATURE$, 10 each for syncope, hereditary neuropathies.	false
+faef504bd1f092603b0daeac477b5c87aa526bd5	The remainder were for patients with post-@DISEASE$ syndrome, @PHENOTYPICFEATURE$ and mixed disorders, such as Charcot-Marie-Tooth disease, myasthenia gravis and myotonic dystrophy.	false
+bb0da3f92901c5067e2cf106bf430761eb5a2710	Hemolytic anemia, recurrent metabolic acidosis, and incomplete @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+fc2c112dbc1b7d0b2bf5ea59a74fc9b9778c3a1e	@PHENOTYPICFEATURE$, clinical severity and MRI changes in @DISEASE$.	false
+0dc49cae2399a160cfd1970bbc643759f4d55bb2	General anesthesia has several potential hazards to patients with @DISEASE$, such as @PHENOTYPICFEATURE$, hypothermia, and metabolic acidosis.	false
+8f82b0734caabfbc9d74358799395df09fdadbc1	In the review scientific researches on studying biochemical and molecular cellular pathological processes in cybrid cells in various human diseases such as Alzheimer's disease and mild @PHENOTYPICFEATURE$, MERRF and @DISEASE$, Leber's optic atrophy and Parkinson's disease were considered.	false
+108786bd135228a779bcbedf3ad729f7786ae0cd	Myoclonic seizures, intractable @PHENOTYPICFEATURE$, and headaches resolved during the concomitant administration of sodium dichloroacetate and vita min B1 in two Japanese siblings with the @DISEASE$ (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike syndrome).	false
+655e77b40905b4f19f5923960470a4111db7bcbd	To examine clinical severity, @PHENOTYPICFEATURE$, and MRI changes in patients with @DISEASE$.	false
+43539201dbe5eac2f25a5622b92f260de96a4c4e	Hereditary @DISEASE$ associated with deafness and @PHENOTYPICFEATURE$.	false
+42d1077f0d43e7de2806b844e3ffe66c1a6aa2ea	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, @PHENOTYPICFEATURE$ and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+1784cffdc5b7d99713e03f3aac587eae88f6234d	Their phenotype @DISEASE$ media degeneration, aortic regurgitation, left @PHENOTYPICFEATURE$, reduced ejection fraction, and fractional shortening.	false
+7d32597edd15a74497778866f6d25e56b812aade	A distinct form of chronic pancreatitis occurring predominantly in and around the duodenal wall (near the minor papilla) has been reported under various names, @DISEASE$ dystrophy of heterotopic pancreas, pancreatic @PHENOTYPICFEATURE$ of duodenum, para-duodenal wall cyst, myoadenomatosis, and groove pancreatitis.	false
+78e6317557e318fb7c41c57de1ed5c277f491f6f	Two teratomas of the middle ear were first described in 1866 and since then, and to the best of our knowledge, 19 additional cases have been reported in the literature under different terms such as hairy congenital polyps, @DISEASE$, dermoid cysts, @PHENOTYPICFEATURE$, cutaneous teratoma and teratomas.	false
+87145485eafa79e70dae403e3d98196b115ac35b	We obtained DWI in 24 consecutive patients with @PHENOTYPICFEATURE$, (19 intra-axial: five abscesses, five gliomas, six metastases, two demyelinating lesions, one neurocysticercosis; five extraaxial: two arachnoid cysts, two @DISEASE$, one cholesteatoma).	false
+274c208ab4ddd3df5c99175cfc41d499cd9b2393	Ocular tumors addressed include: retinoblastoma, capillary hemangioma, lymphangioma, dermoid and @DISEASE$, teratoma, glioma, astrocytic @PHENOTYPICFEATURE$, neurofibroma, rhabdomyosarcoma and fibrous tumors.	false
+58cc46d26ef7dd93c8a8d9400c3caef4987d8519	There were 8 dermoid cysts, 2 @DISEASE$, 6 post-traumatic lesions including 3 calcified cephalhematomas and 3 pseudocysts, 5 vascular lesions including 3 capillary hemangiomas, 1 venous angioma and 1 lymphangioma, 2 cases of cranial fasciitis and 1 case each of benign teratoma, deep granuloma annulare, benign fibrous histiocytoma, congenital melanocytic nevus, @PHENOTYPICFEATURE$ with ectopic meningothelial elements, cutaneous hyalinised ectopic meningioma and a meningocele with a fibrohistiocytic reaction.	false
+f6a971d6f2e38f06dd0ba7894a0b0499e3e8043c	Here, we review the current knowledge on the biogenesis of microRNA, the mechanisms of translational repression and the use of miRNA as circulatory biomarkers in chronic paediatric liver diseases @DISEASE$ fibrosis associated liver disease, @PHENOTYPICFEATURE$ and viral hepatitis B.	false
+265ed1d2950390c5b2783cc585609275e876b48f	Eruptive @PHENOTYPICFEATURE$ and hyperlipemia in glycogen storage disease (@DISEASE$).	false
+d60969078c615fe67a1006a8186d844cd015139f	The Fanconi syndrome associated with @DISEASE$ and @PHENOTYPICFEATURE$ of galactose.	false
+db4db97407d2a901b3d6c98210b7eb8d06291e91	As well as @DISEASE$ abnormality, venous uniqueness should be noted in Apert @PHENOTYPICFEATURE$ surgeries.	false
+23271e8f2586ec1cbaf720a00d063bac3638a33a	Significant @PHENOTYPICFEATURE$ with @DISEASE$ hypertension were shown to be in patients with familial antecedents of MNDs.	false
+373273bef566f452399fcbd021d15b96bcf4dff0	Brain microbleeds, amyloid plaques, @PHENOTYPICFEATURE$, and @DISEASE$ stiffness.	false
+67c824c9fb9736baf9ae3f72972cfd952e59d6a2	@DISEASE$ @PHENOTYPICFEATURE$ and cold intolerance in relation to time after digital replantation.	false
+b565570f3e21f3e7633ea31be4072a475245dbc4	Cerebral @PHENOTYPICFEATURE$, especially @DISEASE$ ischemic stroke (AIS) is very rare and unusual in KD.	false
+222a9e18b20c0eafb66fe804917567869a263d3f	A Case of "Splenomegalic" or "Myelopathic" Polycyth?mia, with True Plethora and @DISEASE$ @PHENOTYPICFEATURE$, without Cyanosis.	false
+9c6b3e4ad68d3aaee55fa28532cf0ebed30372b1	In 2 of them @DISEASE$ hypoplasia in the posterior circulation was detected, in 2 cases supratentorial artery hypoplasia and a single venous @PHENOTYPICFEATURE$.	false
+ee87557af1dacf215abc4445279d36c7e626e2f9	[Woman with non-insulin dependent diabetes mellitus, @PHENOTYPICFEATURE$, hypocalcemia and @DISEASE$ hypertension].	false
+33db0e6e66283b44fd3ebc762f27ba0120311b02	Four out of 32 animals (12.5%) with an @DISEASE$ anomaly had another @PHENOTYPICFEATURE$.	false
+7251f45047b88b07d10b088d308c776709d87d4b	Artificial @DISEASE$ anastomosis introduces changes in the whole brain blood supply with the danger of developing of @PHENOTYPICFEATURE$ hematoma in previously ischemic-affected brain tissue.	false
+8daca19ba3a26e64d799efc5bb337c48409ddc94	@DISEASE$ arterial anastomosis introduces changes in the whole brain blood supply with the danger of developing of @PHENOTYPICFEATURE$ hematoma in previously ischemic-affected brain tissue.	false
+ab5c39798769ce2eabdc3c15cf2f4703064b7796	Bilateral @PHENOTYPICFEATURE$ and bitemporal swelling: A rare manifestation of @DISEASE$.	false
+ee7abb2664453f00de275e2cde289f4ccda52eb7	@PHENOTYPICFEATURE$ and @DISEASE$ in children and adolescents administered intensified chemotherapy for the Ewing sarcoma family of tumors.	false
+4554036b3977bbc3542f2b85e1903cf53c22dd73	As regards type of @PHENOTYPICFEATURE$, 40.4% had acute lymphoblastic leukaemia, 51.8% had @DISEASE$ and 7.8% were unclassified.	false
+dc374d03758aa595363046211e71ad350d400086	A child with bilateral @PHENOTYPICFEATURE$:  a sign of @DISEASE$?	false
+cce13c40ae6ceae6d45088c12970170e9280300a	We report the case of a 6-year-old girl who presented with bilateral @PHENOTYPICFEATURE$ revealing @DISEASE$.	false
+242657f064e32264953db2cfb8c2d0238c6da0dc	Pulmonary @PHENOTYPICFEATURE$ may be the cause of pulmonary infiltrates, even in non-hyperleucocytosic @DISEASE$ patients with low blast counts.	false
+705513eaf1658ae8db2611e2b70d104c54b6cec6	Sudden bilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a52448715b4cedfcec216c620b7c98c9757bd8d2	Subsequently, he developed marked @PHENOTYPICFEATURE$, thrombocytopenia, and @DISEASE$.	false
+18edc60bc77da77a580f1fefdb3dd86c25c31f1d	Our data suggested that in most Hong Kong Chinese @DISEASE$ patients, @PHENOTYPICFEATURE$ transformation may have occurred at a c-kit negative stage.	false
+fe8257c8901981b769531a5a432c212429118eb4	@PHENOTYPICFEATURE$ and facial palsy as an unusual clinical presentation of @DISEASE$.	false
+abad7be1056c24fb72bc0c9b6734b4751d42d7c8	This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of @PHENOTYPICFEATURE$), POU3F4 (mutated in @DISEASE$) and ITM2A (a gene involved in cartilage development).	false
+867b82d0247998aca8339d84e035aa1ad10aa1e9	Treatment with @DISEASE$ in both EAE models significantly improved EAE disease parameters (onset, severity, @PHENOTYPICFEATURE$, inflammation and demyelination).	false
+3cab7c40053312c86063a6f6485248fdf16ebb8d	@PHENOTYPICFEATURE$ versus overgrowth: Silver-Russell syndrome is genetically opposite to @DISEASE$.	false
+dadf6afbfef5ef91a6b28ccec891d037692920f2	@DISEASE$ (BWS) is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihyperplasia and @PHENOTYPICFEATURE$.	false
+9ee28699df9c9685e562e5337246a872a0403964	Beckwith-Wiedemann syndrome (@DISEASE$) is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihyperplasia and @PHENOTYPICFEATURE$.	false
+210d8edb60441e04f6c9e65ff6d01d7ef100baa1	This child has @DISEASE$ and is @PHENOTYPICFEATURE$.	false
+1040e5d4d8dff23953ff8aa8dbc7941e1465900f	Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine @PHENOTYPICFEATURE$, while @DISEASE$ (BWS) is a clinically heterogeneous overgrowth syndrome.	false
+82e18abb1fb2999969bcdab36ffcd3a5b891bf8a	Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine @PHENOTYPICFEATURE$, while Beckwith-Wiedemann syndrome (@DISEASE$) is a clinically heterogeneous overgrowth syndrome.	false
+38a3f4516b24dc2481f2b60946616212d3e9fae4	@DISEASE$ is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihypertrophy, omphalocele, macroglossia and @PHENOTYPICFEATURE$.	false
+015cea5573b0f5d0dfa484a10d35658973cb4c0d	CDKN1C mutations lead to Beckwith Wiedemann syndrome (@DISEASE$, overgrowth syndrome) and in IMAGe syndrome which associates @PHENOTYPICFEATURE$ and adrenal insufficiency.	false
+05f4dd97e4fefc6a67f5f5e66e6e40e857b6b87e	CDKN1C mutations lead to @DISEASE$ (BWS, overgrowth syndrome) and in IMAGe syndrome which associates @PHENOTYPICFEATURE$ and adrenal insufficiency.	false
+f193327a75c187cc7ca9e7719bf688af484ca39c	We performed an autopsy and a histological evaluation of the fetus, and searched the literature for @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+94aaa105386c30d8932f3d89ff9b5acdfd55b972	Introduction?Placental mesenchymal dysplasia is a rare vascular disease associated with @PHENOTYPICFEATURE$, fetal demise as well as @DISEASE$.	false
+58e64c88ea8f78acac1a29e7b4d570f8e30983b5	In five neonates, unrecognized by prenatal ultrasound were @PHENOTYPICFEATURE$ (2 cases), tracheoesophageal atresia with cardiac anomaly (1 case), and Beckwith-Wiedemann syndrome (@DISEASE$) (2 cases).	false
+338109bd826e8d13a1118f1ceea938ed9d4cb1eb	In five neonates, unrecognized by prenatal ultrasound were cardiac anomalies (2 cases), tracheoesophageal atresia with @PHENOTYPICFEATURE$ (1 case), and Beckwith-Wiedemann syndrome (@DISEASE$) (2 cases).	false
+010856fedfcfec0e288c1f8dff3a9d8c5a7390a5	In five neonates, unrecognized by prenatal ultrasound were @PHENOTYPICFEATURE$ (2 cases), tracheoesophageal atresia with cardiac anomaly (1 case), and @DISEASE$ (BWS) (2 cases).	false
+41ae87e6e35699d4559fae921d14ff7d83e92a37	In five neonates, unrecognized by prenatal ultrasound were cardiac anomalies (2 cases), tracheoesophageal atresia with @PHENOTYPICFEATURE$ (1 case), and @DISEASE$ (BWS) (2 cases).	false
+dfcefcabe94ed29ee4ebcfca2210f752dd3f6096	It causes more developmental delays and long-term sequelae than Down syndrome (trisomy 21), @PHENOTYPICFEATURE$, or @DISEASE$ combined.	false
+153e9de16db29bddca2de1679fb4d5bc90704aea	Nurses were more likely to know what constitutes binge drinking, @PHENOTYPICFEATURE$ associated with @DISEASE$, and criteria for diagnosis.	false
+c3ae8208eb4077052ac0961cba3d7f35a4e7652b	The new-born had the typical @PHENOTYPICFEATURE$ associated with @DISEASE$ and the mother had a history of heavy drinking.	false
+75abf3fe7292f82697dbda252b4e188cf713a163	These studies explain the rarity of @PHENOTYPICFEATURE$ despite the frequent craniofacial abnormalities in @DISEASE$.	false
+d960221a5925671ed87f1acc621377fd7968ebde	@PHENOTYPICFEATURE$ are similar to those reported in the @DISEASE$ (a typical neural crest syndrome).	false
+f535ddf22709af90b027c1032f24c070a2b0d986	A case of major @PHENOTYPICFEATURE$ due to the @DISEASE$ is described and the similarity to thalidomide-induced embryopathy is noted.	false
+9b9b27fe3aa94403c4dcd1785d78e1920045f4c5	The diagnosis of @DISEASE$ (FAS) associates three criteria: delay of pre- and postnatal @PHENOTYPICFEATURE$ development of the central nervous system, craniofacial abnormalities.	false
+b8d6129f20863d5f0c23611ea6152218fd8d0d06	Those afflicted with @DISEASE$ often have muscle weakness, @PHENOTYPICFEATURE$, and atrophy.	false
+37f64293d7a3b1d0ed0ccb4ff489380c9de48a71	Ethanol acts as a teratogen causing brain, craniofacial, and @PHENOTYPICFEATURE$ in those suffering from @DISEASE$.	false
+b09e7e22093b9b9d47a743eddc9ba2ba23086701	@DISEASE$ is characterized by specific @PHENOTYPICFEATURE$ and significant impairments in neurodevelopment and physical growth.	false
+c6657a088544d882a76ee40ea8f39c81eeeedab4	Cognitive deficits in patients with @DISEASE$ (OSAS) are well demonstrated, but the pathophysiology of these deficits is still controversial, as the relationship between OSA severity and @PHENOTYPICFEATURE$ is usually weak.	false
+6965a4d1619442807bf579d379d2fbfeba1955db	@PHENOTYPICFEATURE$ in patients with @DISEASE$ (OSAS) are well demonstrated, but the pathophysiology of these deficits is still controversial, as the relationship between OSA severity and cognitive deficits is usually weak.	false
+4bda37a6afc5df6acf612415b996dba5940653a0	@DISEASE$ (OSAS) is associated with @PHENOTYPICFEATURE$.	false
+1c7bd7e81020265337a7a7be681f0fd72c802c0d	@DISEASE$ (OSAS) may be associated with @PHENOTYPICFEATURE$ (CI).	false
+49d9f972b55bd7dd865f6866b53aac9c9cfe48e0	@DISEASE$ is associated with executive @PHENOTYPICFEATURE$.	false
+a3b09fa24b2fb5524a26236fb635399c6aefe9d7	@PHENOTYPICFEATURE$ and @DISEASE$ (OSAS) are one of the most common chronic respiratory diseases.	false
+969e17f66da91f2559f0588b1a15427f1cbbd588	There are currently no biomarkers that are associated with @PHENOTYPICFEATURE$ (CI) in patients with @DISEASE$ (OSAS).	false
+107db6f47fd6676db9df9831a435a36417f793ba	Nonspeech movements have a broad spectrum of clinical applications, including developmental speech and language disorders, motor speech disorders, feeding and @PHENOTYPICFEATURE$, @DISEASE$, trismus, and tardive stereotypies.	false
+fac436a7927c330c395a1836dfd7a6242d2c5137	@PHENOTYPICFEATURE$ is common among patients with @DISEASE$ (OSAS).	false
+3b710ce4df14e0650b240cfdf3f4437b3eab2ce4	Patients with @DISEASE$ (OSAS) show @PHENOTYPICFEATURE$, vigilance alteration and attentional decline.	false
+0a229ab90819c5eaa0c7114144f8ef78b000d0e4	Th1 and Th2 immune response was imbalance in non-allergic rhinitis and @PHENOTYPICFEATURE$ @DISEASE$ hypopnea syndrome children.	false
+e86c4d980cf5436eaaa31ff4b4eb0d001eba9c46	Seven of 68 patients with @PHENOTYPICFEATURE$ or mixed mitral valve disease had @DISEASE$.	false
+804b28732f291e3ce04e2cc026fc880cbdcdf321	Whether lifestyle changes shown to reduce @DISEASE$ risk (i.e., @PHENOTYPICFEATURE$, exercise, cholesterol reduction, etc.) can reduce PCa risk, warrants further study.	false
+a2b9f545a81a093e89bd0c32afd9fe680c88813b	One-year total disease-specific medical costs were highest for arrhythmias, osteoarthritis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f32cdff54021649405bde7628a5b7cb82c652c85	The recent developments in methods used in @DISEASE$ of ocular diseases (such as Diabetic Retinopathy, @PHENOTYPICFEATURE$, Age-related Macular Degeneration and Pathological Myopia) are investigated and summarized comprehensively.	false
+c2507ccc076045424127d7a49d48ffe3503ed685	To validate a new computer-aided diagnosis (@DISEASE$) imaging program for the assessment of nuclear @PHENOTYPICFEATURE$.	false
+63113eefc1ca472d08a387a026a37401ae13571f	Self-management interventions targeting cardiac pain in women compared with a control population reduced (1) cardiac pain frequency and cardiac @PHENOTYPICFEATURE$ proportion (obstructive and nonobstructive @DISEASE$), (2) fatigue at 12 months, and (3) dyspnea at 2 months.	false
+a8969d587a257b70c49cfb97e9d23ff606bd8c44	Self-management interventions targeting cardiac pain in women compared with a control population reduced (1) cardiac @PHENOTYPICFEATURE$ frequency and cardiac pain proportion (obstructive and nonobstructive @DISEASE$), (2) fatigue at 12 months, and (3) dyspnea at 2 months.	false
+52946dd31a32bce99842c5aefd557ce290b2cd5d	Self-management interventions targeting cardiac @PHENOTYPICFEATURE$ in women compared with a control population reduced (1) cardiac pain frequency and cardiac pain proportion (obstructive and nonobstructive @DISEASE$), (2) fatigue at 12 months, and (3) dyspnea at 2 months.	false
+f3cd5f7cfa3d398d8c73e0eaa7aa443432270b2a	The relation was independent of other risk factors, supporting the inclusion of @PHENOTYPICFEATURE$ and CKD in global risk assessment for patients with suspected @DISEASE$.	false
+a3b251c10e9bdc331aa120f5e9ab3f57a9c104f9	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and specific lesions.	false
+ade1f0e4f9a57cb6f4b403fb443dcea45b9cfacd	Therefore, a computer-aided detection (@DISEASE$) system is proposed to make an accurate, reliable and fast diagnosis of @PHENOTYPICFEATURE$ based on the optic nerve features of fundus imaging.	false
+ddfdbaf2dfd9fd3feed8ada77e8c0ecfa8c15560	This new @DISEASE$ imaging program assesses nuclear @PHENOTYPICFEATURE$ with results comparable to the manual grading using the Wisconsin System.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+fd382484401cbf8883ae689973683b0534b2b158	Cortical degeneration associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4a739895775e1b4011c805687049a1c107a8954a	A 62-year-old man with aleukemic Bence Jones type @DISEASE$ who developed @PHENOTYPICFEATURE$ is reported.	false
+ec856c3868f2f696fce59957f41489468aa0c0e3	@PHENOTYPICFEATURE$ may be associated with some connective tissue disorders or autoimmune diseases but coexistence of scleroderma with @DISEASE$ (MM) is an unusual finding.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+afa0c0a0184978777311a816f6d7a56de1208422	To determine the frequency of hypercalcemia and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+73ed419c46b733de682c71dea579ddab0643b14c	It is speculated that abnormal immunological reactions related to @DISEASE$ caused @PHENOTYPICFEATURE$-like lesions.	false
+a50de13546190c9b73ec0dda3248ec1a535cad06	We recommend cautious monitoring for patients with @DISEASE$ and @PHENOTYPICFEATURE$ to detect the onset of ectopic calcification.	false
+46dbdf366ebabb685fdda0a92dcd6edf3fb441dd	The relationship of the disorder to @DISEASE$ and plasmacytoma and the pathogenesis of the @PHENOTYPICFEATURE$ remain obscure.	false
+01e9f02c867deabae0aab22bd5b0463373ec5a64	Our secondary purpose was to compare such functional outcomes in patients with @PHENOTYPICFEATURE$ versus @DISEASE$.	false
+6d7a0b80c67816847c62e6e8661a18b86be56ad0	Report on two siblings having died during the first days of life who exhibited a syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and inter-sexual genitalia, and in one child an additional cleft palate and coarctation of the aorta with VSD.	false
+9fe9b0811250664f98b260b70e7a43bf5bcb1b0a	These were: vesicoureteral reflux (99 cases or 30,75%), hypospadias (62 cases or 19,26%), pelviureteric junction obstruction (42 cases or 13,04%), megaureter (35 cases or 10,87%), duplex pelvis and ureter (16 cases or 4,97%), bladder diverticulum (8 cases or 2,48%), ureterocoele (7 cases or 2,17%), stenosis of the external urethral opening (6 cases or 1,86%), ectopic kidney, duplex kidney and pelvis (each 5 cases or 1,55%), polycystic kidneys and urethral stricture (each 4 cases or 1,24%), multicystic kidney (3 cases or 0,93%), kidney agenesis, ureter agenesis, urethral diverticulum, ectopic ureter, horseshoe kidney and fetal kidney (each 2 cases or 0,62%), @DISEASE$, urethral atresia, @PHENOTYPICFEATURE$, urachal cyst, epispadias, bladder exstrophy, renal hypoplasia, renal malrotation and Prune-Belly syndrome (each 1 case or 0,31%).	false
+cd582678216ec33106e79f271b97776fb29055e5	We have found 169 cases of pelviureteral junction (PUJ) obstruction, 52 of vesicoureteral reflux (VUR), 48 of megaureter, 13 of ureterocele, 8 of ectopic ureter, 5 of urethral valves, 26 of multicystic dysplasic kidney, 35 of renal duplication, 4 of @PHENOTYPICFEATURE$, 2 of ectopic kidney, 2 of @DISEASE$, 3 of bladder diverticular, 1 of renal hypoplasia and 1 of Bolande's tumour.	false
+57579f836d80c6086bf2ad4d9dbfa029e9ce7b99	It is used in a variety of @PHENOTYPICFEATURE$ like hemi-facial spasm, focal dystonias like @DISEASE$, cervical dystonia, oromandibular dystonia, limb dystonias.	false
+091fcac4b16e427b0b3941706a0c03b3bd44e729	Risk for birth defects was substantially increased among some obese mothers (BMI ?30) (e.g., @PHENOTYPICFEATURE$, tetralogy of Fallot, @DISEASE$, hypospadias, and epispadias).	false
+53f5204f113e34f754b764df44891ab50e6df7e0	In addition, we observed modest increases in the risk for @PHENOTYPICFEATURE$, @DISEASE$, and limb reduction defects in offspring of women who showered ?15 compared to <15 minutes.	false
+f3d95df2318c334fb8ac84e51bfd32505bf1f69f	CCHD, anencephaly, @PHENOTYPICFEATURE$, congenial diaphragmatic hernia (CDH), omphalocele, gastroschisis, limb defects, @DISEASE$ (CL/P) and isolated cleft palate were evaluated.	false
+8ccaa414154d27677a36fb761fb157e88c8ffe8d	We examined whether early gestational exposures to pesticides were associated with an increased risk of anencephaly, @PHENOTYPICFEATURE$, @DISEASE$ (CLP), or cleft palate only.	false
+b656a71c365a9d6bf7f752a1b48c70ef54b654f1	Eight clusters of selected CAs with unusually high birth prevalence were identified: anencephaly, encephalocele, @PHENOTYPICFEATURE$, diaphragmatic hernia, talipes equinovarus, omphalocele, @DISEASE$ (CL/P), and Down syndrome.	false
+371c7edf619937bf6a4b4fa2ce392c70238b0370	PND and birth prevalence of selected congenital anomaly groups/subtypes (anencephaly, @PHENOTYPICFEATURE$, serious cardiac, diaphragmatic hernia, gastroschisis, exomphalos, bilateral renal agenesis, lethal/severe skeletal dysplasia, @DISEASE$ [CL + /- P]).	false
+4d5c0d0af3709a59089ea65a5dd0a4c1a574b2d7	The results of the present study suggest that mothers with "high" PCE exposure levels during the first trimester have increased odds of having a child with @PHENOTYPICFEATURE$, @DISEASE$, and hypospadias.	false
+0eea70d28c2c52a8383cd0a9334fab733af86fff	Risks were estimated for @DISEASE$, cleft palate alone, anencephaly and @PHENOTYPICFEATURE$ from data on frequency and heritability collected in France.	false
+cbc67085bb727f1642ccb8c15065bc3edb2e8a23	This study aimed to use social media for the recruitment and engagement of parents in research and to determine the research priorities of parents who have children with Down syndrome, @DISEASE$, congenital heart defects, and @PHENOTYPICFEATURE$.	false
+b989ca83ae959d85bc8ac5b1f3c477971cb206a4	Detection rates between both health insurance schemes (public and nonpublic) did not show significant differences, but anencephaly, @PHENOTYPICFEATURE$, renourinary defects, and @DISEASE$ were detected earlier in patients from nonpublic rather than in public hospitals.	false
+12440d64894e6d1fb8361ef1372efa86a50e858e	@DISEASE$ (TD) is an @PHENOTYPICFEATURE$ disorder predominantly the result of long-term neuroleptic administration.	false
+d28e745c5be377994fccf17d7c18e2cce3cab763	@DISEASE$ (TD) is a complex @PHENOTYPICFEATURE$ disorder affecting about 23% of neuroleptic-treated patients.	false
+cbb2bc505db6533907b9f3d730abbef31ba2f031	@DISEASE$ (TD) is an @PHENOTYPICFEATURE$ disorder induced by long-term antipsychotic treatments.	false
+33d379231518db75cbeb7434b64ba3a85bdefeaa	@DISEASE$ (TD) is an @PHENOTYPICFEATURE$ disorder associated with antipsychotic treatment.	false
+a81654c4dd8c66a4c3000026d0be9868e1a12942	@DISEASE$ (TD) is a potentially persistent and disabling abnormal @PHENOTYPICFEATURE$ disorder.	false
+6164325a101a8a41dd3f19bfd8cb68c8a3448ebe	@DISEASE$, the @PHENOTYPICFEATURE$ disorder that no one really understands.	false
+878ba89591b9e7e008038f8995a2e55b393235ca	@PHENOTYPICFEATURE$ and @DISEASE$ in chronic psychiatric patients--related disorders?	false
+7b62fc49d885b12cffd9d6c27f91fb89ce92657c	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder associated with the prolonged use of antipsychotic drugs.	false
+b1f5ca9a19b7a175ac41075ca7e078901f9772a3	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder that usually occurs after long-term neuroleptic treatment.	false
+679e079724785804ea22257bca6e4cddeace42f8	@DISEASE$ is an @PHENOTYPICFEATURE$ disorder developing following treatment with neuroleptics.	false
+be65eca48eae1c65d93f85bed66b76255816166a	This study shows that PHF21A haploinsufficiency results in intellectual disability and craniofacial anomalies and possibly contributes to susceptibility to autism spectrum disorder, epilepsy, and @PHENOTYPICFEATURE$, all of which are @DISEASE$ features.	false
+59b8ce3d3bdbbcba8c9542af3e28a4868e4379bc	The polygenic susceptibility score (@DISEASE$) was computed based on 11 SNPs derived from a published genome-wide association study for child @PHENOTYPICFEATURE$.	false
+708d158cc8d5a526230258fe6cbc946d534f38c1	This study consolidates the association between RA and @DISEASE$ with @PHENOTYPICFEATURE$.	false
+bbabaf296b56131bca9feab0a544a0a6a631af06	@DISEASE$ occasionally shows autism spectrum disorder, epilepsy, and @PHENOTYPICFEATURE$.	false
+5549ca875d7df413f9355179059ce4e38eca893b	Secondary outcomes were other physiological parameters (heart rate, blood pressure, respiratory rate, and NT-proBNP), subjective health status (SF-36), perceived stress (@DISEASE$), psychological well-being (HADS), social support (PSSS12) and a composite endpoint (all-cause mortality, @PHENOTYPICFEATURE$, symptomatic arrhythmia, cardiac surgery, and percutaneous cardiac intervention).	false
+196fa86b77cad834220a13f19203fe32fc2635d7	Arrhythmias, conduction disturbances, @PHENOTYPICFEATURE$ and coronaropathy were the cardiac manifestations of @DISEASE$ in 11 patients.	false
+39adce1c4a077c718a995bc300d098cf23acfac6	Five percent of @DISEASE$ patients experienced one or more CV events, including @PHENOTYPICFEATURE$ (8/408), transient ischaemic attack (6/408), stroke (4/408), angina (4/408), myocardial infarction (3/408) and peripheral obliterative arteriopathy (2/408).	false
+cc5731e7918df51d80ba51c5790f42a56057fc22	In patients with @DISEASE$, the glucose hydrogen breath test for detection of small intestinal @PHENOTYPICFEATURE$ was performed and various gastrointestinal symptoms were determined.	false
+aac29cc328d3921ee575177df9055669aae09afd	Reasons for drop-outs were very high liver transaminases in three cases, cardiac death in two, and drug allergy, alcoholic problems, suspected @PHENOTYPICFEATURE$, reactivation of tuberculosis, arteriosclerotic heart disease, and lethal progression of @DISEASE$ in one case each.	false
+10c9c99c677fdbb2a8f838bc229f8dfadc5aa215	To identify the occurrence of @PHENOTYPICFEATURE$ in adolescents who use personal sound systems (@DISEASE$).	false
+ee44f982222888774eb4d70843ad80bd8c028f41	A total of 19 data elements were associated with the presence of liver fat and 11 with severity of liver fat including @DISEASE$ and AST, plasma lipid, glucose, and iron metabolism variables, several medications and laboratory measures, and @PHENOTYPICFEATURE$.	false
+3653e997b76cc478556f0c547b766184f31665e9	Aspirin overdose may result in acid-base disturbances, electrolyte abnormalities, @PHENOTYPICFEATURE$, chemical hepatitis, seizures, and mental status @DISEASE$, but myocardial depression has not been reported following aspirin overdose in children.	false
+9f5de4b6237714ba2dbe75484d06c42fc292f014	Thus, lipomatous or fibrolipomatous @PHENOTYPICFEATURE$ should be considered as a possible diagnosis whenever @DISEASE$ lung tumors are encountered.	false
+fe0d15b6fea63c7ec7fb76a0af8e8e5d46fbb2bd	Grade 3/4 adverse events with a ?10% incidence were thrombocytopenia, @PHENOTYPICFEATURE$ and alanine transaminase (@DISEASE$) elevation.	false
+0eeab5287a2ba61fa92b7bc8452ca7e6281e6d70	23 lipomas, 1 fibrolipomatous @PHENOTYPICFEATURE$ (FLH) and 1 well differentiated lipoma-like liposarcoma/@DISEASE$ tumour (WDLLL/ALT) were identified.	false
+c1d64616be40242a00d2ec04c4ca4624b42ef3a8	Total bilirubin (T-bil) is used universally for monitoring post-portoenterostomy (PE) @PHENOTYPICFEATURE$ (BA) patients although other biochemical markers [BM; AST/@DISEASE$ and platelet count (PC)] are also prognostic.	false
+0604c8c6aedb3960399a44a3ee95165f67b26df1	How does @PHENOTYPICFEATURE$ @DISEASE$ metabolism, and are the changes compensatory or pathogenic?	false
+6df568ee867de67203e6d26d0c62265ce5b1a3a3	Chronic @PHENOTYPICFEATURE$ can @DISEASE$ bone metabolism and bone material structure.	false
+00d9b287bb3403bc94a90ca694a2b0a474100b47	Congenital trichomegaly, pigmentary degeneration of the retina and @PHENOTYPICFEATURE$ (@DISEASE$): 28-year follow-up of the first reported case.	false
+17cf6f45a83337123abc3480004f4e3d6fe3d29c	[@DISEASE$ and pulmonary @PHENOTYPICFEATURE$.	false
+ce36e40d3084bd1cb0ca8f0a5c2bdd05f1832c19	@DISEASE$ (PAN) is a medium vessel @PHENOTYPICFEATURE$ affecting systemic organs.	false
+615ce7d4c0961869c18ae174b9d1d4ee16e4bf21	@DISEASE$ (PAN) is a rare systemic @PHENOTYPICFEATURE$ affecting multiple organs.	false
+a84db0e5dd5e1616ad019043670f67a9483acda1	@DISEASE$ in the elderly is characterized by an increased frequency of the association with viral B hepatitis and skin @PHENOTYPICFEATURE$.	false
+34a0d673156cc2ecd31751dff6756a72e0e3e4ef	A 46-year-old woman with @DISEASE$ and chronic renal failure developed sudden loss of vision which was associated with orbital @PHENOTYPICFEATURE$.	false
+c33473da72359c43a98a50c9e4b331074278bf3e	@DISEASE$ presenting as an acute bilateral @PHENOTYPICFEATURE$.	false
+86b2ee4ab45a30ec4f89f084522baa9969b3a332	@DISEASE$ (PAN) is a rare form of systemic @PHENOTYPICFEATURE$, characterized by necrotizing inflammation of medium-sized vessels.	false
+d7c2fb2fca9e508f9c7c27cf5bccf2f4f62fd28b	@DISEASE$ presenting with acute anuric @PHENOTYPICFEATURE$.	false
+d21aff9041a063636901c71b69293a970913c2d9	We reported 5 patients with @PHENOTYPICFEATURE$ associated with @DISEASE$ (PN).	false
+32cde5bd82d4b3bafc229d9b5d2bc8a079420ea0	@DISEASE$ (PAN) is a vasculitis affecting elderly people and manifested by a general deterioration, unexplained fever and peripheral neuropathy or @PHENOTYPICFEATURE$.	false
+b4699a3a35fe1c6c9c5f8f88b218b64d70954100	Then the @PHENOTYPICFEATURE$ represented by those independent indices could be automatically classified into ES and @DISEASE$, and the most discriminative feature could be chosen.	false
+7feda252d716b765144fbdbef6e7e41be76d5a15	The lncRNA Wilms tumor 1 Antisense RNA (WT1-@DISEASE$) is a potential @PHENOTYPICFEATURE$ suppressor in some types of cancers.	false
+9f64109b6f985fbfbf57f0c34c757b1353910823	The lncRNA @PHENOTYPICFEATURE$ 1 Antisense RNA (WT1-@DISEASE$) is a potential tumor suppressor in some types of cancers.	false
+5be27acd6b68c666ba83402dc02aae8b45c25cec	Regional anaesthesia in a patient with @DISEASE$ for bladder @PHENOTYPICFEATURE$ resection.	false
+5c9ef5d8e4d01452e57926eefce5cd0490d3337a	Patients with @DISEASE$ accurately judged their global well-being before starting treatment with @PHENOTYPICFEATURE$ necrosis factor inhibition, even though substantial time had elapsed.	false
+a2bc81502f71bff45455df9587fb3aacad377e41	RP is a highly stable feature and well correlated with @PHENOTYPICFEATURE$ stage in CC, which suggests it could differentiate ES and @DISEASE$ with high accuracy.	false
+351c4dfe4749d7798241cce63108f528e806da5d	A comparison of the clinical manifestations caused by different types of mutations in COL4A5 suggested that large fragment mutations are relatively more severe than the other missense mutations and @DISEASE$ by some mutations may show inter- and intra-familial @PHENOTYPICFEATURE$.	false
+89b30c2c3b72877cb7a7a7d3d40da090d7bfcdd0	In breast cancer, we did not observe an association either to @DISEASE$ of individual exons or to specific TMEM16A isoforms, and induced expression of the most common isoforms present in @PHENOTYPICFEATURE$ in the HEK293 Flp-In Tet-ON system had no effect on cellular proliferation and migration.	false
+65386614b210aa7f6aa2bca5e1d26b68d3c8c87e	Slight @PHENOTYPICFEATURE$, pale optic disks at the fundus oculi and vertebral abnormalities, not earlier reported in @DISEASE$, were peculiar to this case.	false
+d4a883c74929e26f431b76ab0f64ec68a842cfbd	Patients with ocular adnexal @DISEASE$ who underwent surgery for radiation @PHENOTYPICFEATURE$ were seen more often in relatively young, female patients, and surgery was required about 3?years after RT.	false
+5d312cf22d014b811da9e4db355718c4aaaf8eda	As a dose of more than 40 Gy induced dry eye syndrome or @PHENOTYPICFEATURE$, the dose must not exceed 40 Gy in order to achieve safe treatment of orbital @DISEASE$.	false
+cc0bb5196b0fad220b01a6e976a029de1d92b471	We retrospectively reviewed the results of radiotherapy for localized ocular adnexal @DISEASE$ (OAML) to investigate the risk factors of @PHENOTYPICFEATURE$.	false
+935c19065e83fa08ffd8fbaa8af51ba6cc242d1f	Risk potentiality of frontline radiotherapy associated @PHENOTYPICFEATURE$ in primary ocular adnexal @DISEASE$.	false
+8afaad28bcb0fab17802f53ed7f9fc42153fb9ba	Authors performed by using various tests serial examinations of the circulating immune complex (IC) concentration in healthy persons, untreated rats, as well as in patients with multiple myeloma or @PHENOTYPICFEATURE$, and in @DISEASE$ bearing rats.	false
+80bb66ad3801bd3e11e6cb223d033456805af37b	To elucidate risk potentiality of frontline radiotherapy associated @PHENOTYPICFEATURE$ in primary ocular adnexal @DISEASE$ (OAML).	false
+5e48dbd224add5c073baef064d417eaab01b0d68	The clinical features of radiation @PHENOTYPICFEATURE$ in patients with ocular adnexal @DISEASE$.	false
+9e604d94641991e3a032bf3a2b68defc75a69043	Bilateral @PHENOTYPICFEATURE$ is a rare presentation with a broad differential diagnosis, and is most frequently is caused by cavernous sinus disease, thyroid ophthalmopathy or haematological malignancy.Hepatitis C may be associated with @DISEASE$ and presents mainly at non-gastric locations even with few hepatic manifestations of the infection.Long-term low-grade lymphoma may present with severe disseminated disease at diagnosis, but treatment response is generally good.	false
+f12ada6b4d256e511622c00759b05255b9e649b6	@DISEASE$ (XLA) is an X-linked genetic defect in maturation of B lymphocytes?that results in the absence of B lymphocytes in the peripheral blood and profound @PHENOTYPICFEATURE$.	false
+bca955a3249ba74bca564b21fbd048361546ec89	Two of three were affected by @DISEASE$ and one by common variable @PHENOTYPICFEATURE$ that, besides clinical features common to most of the immunodeficiencies, showed pre-existent physiopathologic conditions completely different from the features traditionally found in primary antibody deficiencies.	false
+6633c22ba7d2faf3b12884e1f5356eff9e17ae79	@DISEASE$ (XLA), characterized by the early onset of recurrent bacterial infections, profound @PHENOTYPICFEATURE$, and a markedly diminished number of peripheral B lymphocytes, is caused by mutations in the Bruton's tyrosine kinase (BTK) gene.	false
+456ba5269d92924e2763c80510eb621f94e67542	We compared the plasma gastrin responses to bombesin and to a standard test meal in 18 patients with late-onset hypogammaglobulinemia with those in patients with @DISEASE$, early-onset @PHENOTYPICFEATURE$, or hypogammaglobulinemia due to lymphoproliferative cancer, and in 30 normal control subjects.	false
+aeebf64857573eb0477e1418b33baa2a4ead9e04	Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for @DISEASE$ (XLA), which is characterized by recurrent bacterial infections, profound @PHENOTYPICFEATURE$, and decreased numbers of mature B cells in peripheral blood.	false
+732828f2209df78985139d26030b15810f09adfe	Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for @DISEASE$ (XLA), which is characterized by recurrent bacterial infections, profound @PHENOTYPICFEATURE$, and decreased numbers of mature B cells in the peripheral blood.	false
+16fbe1593977fec77b70fadaf8f13db2b9ce9ff6	The most important humoral immunodeficiency syndromes are the transitory @PHENOTYPICFEATURE$ of infancy, the pathological hypogammaglobulinemia with delayed maturation of immunoglobulin-synthesis, the infantile @DISEASE$ (Morbus Bruton) and the X-linked immunoglobulin deficiency syndrome with hyper-IgM.	false
+fb1ea7c0d8638bc4571b8e9fbc1be824dfe5f700	The patient is a 10-year-old girl with a history of @PHENOTYPICFEATURE$, learning disabilities, and @DISEASE$.	false
+d4dde3410b74877e1739c317d9f0a10086fbd762	We report a 17-year-old boy with @DISEASE$ (Schilder's disease) presenting with left leg paresis, @PHENOTYPICFEATURE$, and behavioral changes.	false
+5a5ccfd9639bb579ad804acd121f92a53e6f7e6e	We report here a case of Schilder's @DISEASE$ in a 14-year-old girl with sudden bilateral @PHENOTYPICFEATURE$.	false
+55f6011e11c21fcbf3a179edde1ddc90bdfd16ca	Even if @DISEASE$ is suspected in a fetus due to cerebral hyperechogenicity and a hypoplastic nose, cerebral hyperechogenicity without pulmonary hypoplasia does not always predict lethality or severe @PHENOTYPICFEATURE$.	false
+7dcdeb024dc26780732717002c912d1b5785be7d	Kohlschutter-T?nz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, @PHENOTYPICFEATURE$, epilepsy, and @DISEASE$.	false
+3259998043a0712e72faf30894530ddc26a1d4c6	Clinical features, including learning @PHENOTYPICFEATURE$, seizures and @DISEASE$, initially suggested a diagnosis of Kohlschutter-Tonz syndrome.	false
+a5b26e5687234714289f14238b423c22d716d714	Clinical features, including learning disability, @PHENOTYPICFEATURE$ and @DISEASE$, initially suggested a diagnosis of Kohlschutter-Tonz syndrome.	false
+8050d0c01964140138858a14fea48ce7ce58f6eb	Kohlsch?tter-T?nz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, @PHENOTYPICFEATURE$ and @DISEASE$ (AI).	false
+312cc157b3f84ac400ae9a89151b3143318452df	Key words:Kohlsch?tter-T?nz syndrome, @DISEASE$, seizures, @PHENOTYPICFEATURE$.	false
+1aded920052e7df40622a9cf26900e5bb1b35fe0	Key words:Kohlsch?tter-T?nz syndrome, @DISEASE$, @PHENOTYPICFEATURE$, mental deterioration.	false
+dd0aa5e3c2ab0d52bfa5d12ca7d7b14091d147da	Kohlschutter-Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, @PHENOTYPICFEATURE$, epilepsy, and @DISEASE$.	false
+ff843a4c8d946f94c54d3c15385c7419175bc240	Mutations in the STIM1 and ORAI1 genes result in CRAC channelopathy, an ensemble of diseases including immunodeficiency, @PHENOTYPICFEATURE$, ectodermal dysplasia with defects in sweat gland function and abnormal enamel mineralization similar to @DISEASE$ (AI).	false
+60401133f700cab6c074e623b552704e0776104f	Kohlsch?tter's syndrome is a combination of @DISEASE$, progressive mental retardation and @PHENOTYPICFEATURE$.	false
+bb818efacd12104aeb738ab8bf736b924b2bfd94	@DISEASE$, hearing loss, @PHENOTYPICFEATURE$, and intracerebral calcification are apparent in some affected individuals.	false
+26e3dcd602c2b67d1c46ef594c0ac46776aa256f	All affected individuals suffered @PHENOTYPICFEATURE$, were unable to speak, and had @DISEASE$.	false
+bbaffa5a55863b5449dcbcfa9bfe3578dd8c8109	Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, @PHENOTYPICFEATURE$, epilepsy, and @DISEASE$.	false
+1b4254b91b1f73cabe11b63c1a9271eff00c0347	We excluded all the known SCA loci by mutational and linkage analyses is an American family of British origin with @DISEASE$ and document that an additional @PHENOTYPICFEATURE$ locus must exist.	false
+91c3ecda0c87695390a0955fb3c8d5e3aed228c1	Approximately 10% of cases present at an age of onset before 65 years old, which in turn can be monogenic familial AD (FAD) or @PHENOTYPICFEATURE$ early-onset @DISEASE$ (sEOAD).	false
+2aef1192a4e6c0648a39d5da6d3c14fef7aaff48	Approximately 10% of cases present at an age of onset before 65 years old, which in turn can be monogenic familial @DISEASE$ (FAD) or @PHENOTYPICFEATURE$ early-onset AD (sEOAD).	false
+7ec047f6e7876020919d30197d1493eed1e6caec	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, intellectual disability, speech/language disorder, learning @PHENOTYPICFEATURE$, and @DISEASE$/ADHD.	false
+8ecf9b51526ad066f88a517c30318fa5e80f15b8	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (@DISEASE$), @PHENOTYPICFEATURE$ duration (MSD), stage 5 duration (S5D) and seizure duration (SD), but only the effect on ADD was dose-dependent.	false
+3715feeda6a008bfaa70fee24208d299b517be78	These results provided information on the potential pathological mechanisms underlying the elevated A?42/A?40 ratio in familial @DISEASE$ patients and in the local environment of @PHENOTYPICFEATURE$ AD brains.	false
+9676e8cb6e827ab335fe25f94f277f2375928891	These results provided information on the potential pathological mechanisms underlying the elevated A?42/A?40 ratio in familial AD patients and in the local environment of @PHENOTYPICFEATURE$ @DISEASE$ brains.	false
+7e127ed59b675a08782e7542451c887be1b31a63	The aim of this study was to determine whether the functional rs4880 SNP in the SOD2 gene is a risk factor associated with aMCI and @PHENOTYPICFEATURE$ AD. 216 subjects with aMCI, 355 with @DISEASE$, and 245 controls have been studied.	false
+6e383a27f6bc5d9ef0d1233f116d095dec4b57db	The aim of this study was to determine whether the functional rs4880 SNP in the SOD2 gene is a risk factor associated with aMCI and @PHENOTYPICFEATURE$ @DISEASE$. 216 subjects with aMCI, 355 with AD, and 245 controls have been studied.	false
+99be7ceca775b01e5dedfd14ab0dccf3a367abf2	Other outcomes studied included any reported learning @PHENOTYPICFEATURE$, a subset of learning disabilities reported as @DISEASE$/ADHD (attention deficit disorder) and use of psychotropic medications in the past month.	false
+37c41c5762a6f65f71e1601457c028775e211b42	Validity of the schizophrenia diagnosis of the psychiatric assessment schedule for adults with developmental @PHENOTYPICFEATURE$ (PAS-@DISEASE$).	false
+27663d00b786d1056f32dfcf7b02f69ce290dbc1	Recent genetic studies of @PHENOTYPICFEATURE$ cases of @DISEASE$ have identified a score of risk factors, as reported by Hollingworth et al. (Nat Genet 43:429-435, 2001) and Lambert et al. (Nat Genet 45:1452-1458, 2013).	false
+b319e81e8aa0c00b97fbadc696def978d130e4bc	This may lead to changes in brain development and formation of behavioural reactions, including learning and memory, and also increase the risk of development of the @PHENOTYPICFEATURE$ form of Alzheimer's disease (@DISEASE$)--one of the most common neurodegenerative diseases of advanced age.	false
+c02c6795cfafb46cf13e2148a66da3286d18855c	@DISEASE$ (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+b8051ef0d6b94a32491fe7071be6f8e0b0da5046	Individuals with Langer-Giedion syndrome (also known as @DISEASE$) exhibit several @PHENOTYPICFEATURE$, including multiple exostoses and cone-shaped epiphyses of the hands and feet.	false
+b8b07c2fb07a5dd3795599763472a248c55be2cc	@DISEASE$ is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, @PHENOTYPICFEATURE$, nystagmus, hypotonia, seizure and retinitis pigmentosa.	false
+79077044f8af9f9fa30eba05a46b84ce81cad88c	In both, only the proposita revealed the full pattern of the @DISEASE$ including lip pits, clefts, gingival synechiae, popliteal pterygia, @PHENOTYPICFEATURE$ and genital hypoplasia.	false
+31ab07c6906e0edcb7a9528369e4a9ea8461777a	Immediately following @DISEASE$, continuous video-EEG monitoring was used to record spontaneous neuronal activity and detect @PHENOTYPICFEATURE$.	false
+be83531ecfee33cd48877c0171998de1dd1a8144	Persistent physical symptoms (@DISEASE$), also known as medically unexplained symptoms are associated with profound physical @PHENOTYPICFEATURE$, psychological distress and high healthcare costs.	false
+e0f5996d9e3aa88d0c9a45863d33c5d7cbc3922d	High-frequency @DISEASE$ induces acute @PHENOTYPICFEATURE$, which can lead to neuron death and spontaneous epilepsy.	false
+b8b92a6835bc9f8b26e6350b85a3cf7bee559e4f	@DISEASE$ led to more severe @PHENOTYPICFEATURE$ in KO, as compared with WT mice.	false
+fedd32aecf5b4d7c6085ba50d2404c0af2b034fa	Thirty or sixty minutes @DISEASE$ induced SSSE characterized by continuous behavioral and electrographic @PHENOTYPICFEATURE$ lasting for hours.	false
+c28bc03ee00868068426e0bbdc9b7a4b90d649bf	@DISEASE$ may recruit amygdala into the epileptogenic circuit, resulting in "latent' kindling and development of spontaneous @PHENOTYPICFEATURE$.	false
+a2f6d15fb0f8f7703b7c4bcf0c6a13e2c2bfaa23	Peters Plus Syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by ocular defects, short stature, @PHENOTYPICFEATURE$, characteristic facial features, developmental delay and other highly variable systemic defects.	false
+a0f1377ecd7d334ca9fa67435473d27636e86a32	The @PHENOTYPICFEATURE$ threshold and number of subconvulsive stimulations were significantly lower with 50 @DISEASE$ compared with 200 PPS.	false
+90544348a6cc33a7971ef10d0d930d782f369886	Bartsocas-Papas syndrome is a rare @DISEASE$ with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, @PHENOTYPICFEATURE$, and other ectodermal anomalies.	false
+679dadb37ad850d398b14fa4971858c00e8b3c5b	We report this syndrome in a 12-year-old Malay girl with hemoglobin @DISEASE$, who underwent intensive transfusion and subsequently had headache, visual loss, severe hypertension and @PHENOTYPICFEATURE$.	false
+7ca0de77a0b47ef79cdb36b11aa6bb9952464964	We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset @DISEASE$, with acromutilations in upper and lower limbs, and @PHENOTYPICFEATURE$.	false
+2fe40c66b018683cf84a8c761f7bc7770bfa5521	Case 2 shows loss of sensation, mental retardation, and @PHENOTYPICFEATURE$, clinically similar to patients with @DISEASE$.	false
+4dd43df874c327622dc347aa980374e45bb79ea6	Biopsy of @PHENOTYPICFEATURE$ was consistent with @DISEASE$ with chomogranin A positivity.	false
+5f02045d2e6a3021c0ccb3071c86ae6043e53792	VIPoma is a rare @PHENOTYPICFEATURE$ but is well-described with MEN 1. Stroke as a presenting feature of @DISEASE$ is first reported with this case.	false
+959ee6742fa661589ccc6e11082c0ee6defcae9b	@DISEASE$ is a rare @PHENOTYPICFEATURE$ but is well-described with MEN 1. Stroke as a presenting feature of VIPoma is first reported with this case.	false
+86d877082c4707752e9ee5e0d521f02d60bee31d	[A case of @DISEASE$ type diarrheogenic @PHENOTYPICFEATURE$].	false
+7d0372475e5faed5740c4ca37bc71ed31b2eb779	Metastatic @DISEASE$ arising from colonic primary @PHENOTYPICFEATURE$.	false
+a49a50e339b25ce3f566a01c88cafbc2602c911a	[Myofibroblastic inflammatory @PHENOTYPICFEATURE$ simulating recurrence of pancreatic @DISEASE$].	false
+5bbee0cb11f43027b179f3af9ae6c8880dc425fb	[VIP and GIP-producing pancreatic @PHENOTYPICFEATURE$: relationship to the @DISEASE$].	false
+fe8571ac4097c3b4fc9a51763e73f4ea5f4cafc5	A pancreatic-polypeptide-producing @PHENOTYPICFEATURE$ associated with the @DISEASE$.	false
+429bdcee16e1586b8ab06a74fed4c145c101845b	We report a case of @DISEASE$ in an 83-year-old female patient, who presented with frequent and excessive diarrhoea, @PHENOTYPICFEATURE$, and severe hypokalaemia.	false
+00748c00d3940ab3330d51790c5a63b638cd2681	Vasoactive intestinal peptide-producing @PHENOTYPICFEATURE$ (@DISEASE$) or Verner-Morrison syndrome is a very rare neuroendocrine tumour.	false
+0f78ab5d018789588ca3e75063263e98bb09e4d9	Vasoactive intestinal peptide-producing tumour (VIPoma) or @DISEASE$ is a very rare neuroendocrine @PHENOTYPICFEATURE$.	false
+3768b4c4f4b1d54ae26d407d808077218697024a	Vasoactive intestinal peptide-producing tumour (@DISEASE$) or Verner-Morrison syndrome is a very rare neuroendocrine @PHENOTYPICFEATURE$.	false
+f824d6082c2391c822910dedd212c0b8ec7f73f7	Vasoactive intestinal peptide-producing @PHENOTYPICFEATURE$ (VIPoma) or @DISEASE$ is a very rare neuroendocrine tumour.	false
+216cf228f368c3d426bd6b4df774e682f894d5fb	Treatment with SMS may allow long-lasting remission of @DISEASE$ associated to VIPoma, though it does not arrest the progression of the @PHENOTYPICFEATURE$.	false
+7e8ac2f801df9b489735696ac71438ff0551daba	Treatment with SMS may allow long-lasting remission of Verner-Morrison syndrome associated to @DISEASE$, though it does not arrest the progression of the @PHENOTYPICFEATURE$.	false
+289336cd987ac072b47343c55560cdde141fbd58	@DISEASE$, specific @PHENOTYPICFEATURE$ and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence.	false
+233dacea3bf3ee452d660b50deff581e2d143e25	Here, we present two female siblings with @DISEASE$, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+9e9616af66955b2e502a303f91de7a55ca5901a5	We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of @DISEASE$, optic nerve hypoplasia, @PHENOTYPICFEATURE$, and vocal cord paralysis, thereby expanding the gene-related phenotype.	false
+a8bb0c7ad59d6a9725847439609cfdef32f979a9	The authors report case of an 8-mo-old infant with @DISEASE$, who presented with macrocephaly, @PHENOTYPICFEATURE$, recurrent pulmonary infections, nonketotic hypoglycemia, seizure and metabolic acidosis.	false
+a62edfba21e6a7a6973288d32d6709274bda9cd0	Atherosclerosis, hypertension, @PHENOTYPICFEATURE$, diabetic complications, cancer, benign prostate hyperplasia, Alzheimer and Parkinson diseases, age-related macular degeneration, osteoarthritis, osteoporosis, and @DISEASE$ are strongly associated with aging, implying a common underlying process.	false
+415bdd877eaa0a79e3378ec6f0b4cb3a21bc2c60	One of the children represents the third occurrence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+101ad3a1eeb09dc4c77e633ad755d591edbe92a6	Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and @DISEASE$ have an increased risk of @PHENOTYPICFEATURE$.	false
+adf65bab61d6c624eb8fe3410096a9527c5fca3e	@DISEASE$ (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and @PHENOTYPICFEATURE$.	false
+aea017f7c4afb292555c041616cf0f4e9b7db9a1	While searching the literature for all reported cases with @DISEASE$ and counting the cases with malignancy, we found that the frequency of @PHENOTYPICFEATURE$ or hematologic malignancy was 10.9%.	false
+d62d2b6ca50a794b35b096f802697700565cb772	A probable case of familial @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+bacd17c5052d94e2889ad1a549dc0344ff6ae691	We report on an infant with @DISEASE$, @PHENOTYPICFEATURE$ and cardiovascular anomalies.	false
+7143e43269b5e16af1535ff0f911e19cd5fe87fd	Our patient had VSD and PDA, and although several other patients with @DISEASE$ have had cardiovascular anomalies, they were shown not to have @PHENOTYPICFEATURE$.	false
+dff3c6b7c24523678df2cc7f824f3a3861fff2d5	Cervical spine anomalies and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8b4d79480a77d47a70f75288d922c274726815e2	Congenital lumbar spinal stenosis is probably an under-recognized cause of lower extremity @PHENOTYPICFEATURE$, including @DISEASE$ deformity.	false
+2bd466f70d129b2971b4b6670463846a0007cfad	Exposure increased the fetal malformations, namely, hydrocephaly, open eyelids, microphthalmia, exophthalmia, @DISEASE$, umbilical hernia, and @PHENOTYPICFEATURE$.	false
+9e21446e28344da915ffb4cec77e3033c7da65e8	Among the @PHENOTYPICFEATURE$, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral @DISEASE$ and unilateral dysplasia of the hip.	false
+bc3c8d78e0a4876fb2154fa6fff0255e90c2a457	Other @PHENOTYPICFEATURE$ such as hip dislocation and @DISEASE$ have also been reported in some individuals with NPS.	false
+5377f5aa57b408abff9413a815fd5d29da03d9bc	Among the cases of fetal malformation, the following malformations were observed to occur at a higher rate of incidence: acephalia, exencephaly, cerebral hernia, open eyelid, cleft palate, micromelia, ankylosis of the extremity, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1140cbae6da752ae90bad353bf3ed9df0ffc3a8e	Physical examination revealed @PHENOTYPICFEATURE$; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and @DISEASE$.	false
+5ec119b8d777eac85347b35e7cfb6939811ba88f	These results suggest an association between @PHENOTYPICFEATURE$ as demonstrated by SSEPs or motor electrophysiological studies and the severity of deformity in @DISEASE$ and its response to surgical treatment.	false
+5c902582d07efb0cd06d3b866af70b8c307a7cf6	Although associating liver partition and portal vein ligation for staged hepatectomy (@DISEASE$) has been advocated for treating advanced @PHENOTYPICFEATURE$, increased morbidity and mortality remain serious problems.	false
+ad2c54dd39bb8e0525fa5b05b9199ba4d7276b90	Although an early study suggested that cardiac autophagy is increased and that this increase is maladaptive to the heart subject to pressure overload, more recent reports have overwhelmingly supported that myocardial @DISEASE$ insufficiency results from chronic pressure overload and contributes to maladaptive cardiac remodeling and @PHENOTYPICFEATURE$.	false
+9491a450cd8fb323f833015d5341a2c758177941	This study was performed to assess whether ethnic differences in the prevalence of @PHENOTYPICFEATURE$ in African and European females are related to differences in pre-adipocyte lipid accretion and @DISEASE$ activity.	false
+9a32eefe2a36aff4b2ca26ff2db256a3a5d41713	A 67-year-old patient with newly diagnosed @DISEASE$ developed acute respiratory failure with high-grade fever and bilateral @PHENOTYPICFEATURE$.	false
+391afcf271e39e28ad04474ef1e779d1cfcdf5c6	A 33 year old man, with pre-existing psoriasis and a family history of multiple occurrence of @DISEASE$ and other myeloproliferative disorders, developed steroid-responsive ulcerating skin lesions, pancytopenia, marrow hypoplasia, @PHENOTYPICFEATURE$ and polyarthritis.	false
+6443ae2084750298df8db50f2479c9af6a00260a	[@PHENOTYPICFEATURE$ in pulmonary leukostasis in @DISEASE$].	false
+99f6524c9dab7e27a89562a879e252972bea2b18	Seventy-two adult patients with previously untreated @DISEASE$ received the CHA regimen as induction chemotherapy: CCNU 80 mg/m2 on day 1, Adriamycin 35 mg/m2 i.v. on days 1, 2 and 3, and continuous infusion of cytarabine 100 mg/m2/24 h from day 1 to 10. Forty-nine patients (68%) presented at least one of the following symptoms: acral erythema with dysesthesias in the palms and/or soles (39%); cholestatic hepatitis (39%); profuse sterile diarrhea associated with abdominal distention (33%); acute cerebellar dysfunction (32%) and non-cardiogenic @PHENOTYPICFEATURE$ (21%).	false
+98b4aa270417f323127fef5af2dbf423b73b84a9	A 21-year-old patient with @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+03a84ed3a20dc1e0557bed2e393f426b5eab74ea	Carcinogenic effects of cyclophosphamide, especially its toxic metabolite acrolein that is excreted into the urine, are responsible for the development of @DISEASE$ (AML) and @PHENOTYPICFEATURE$.	false
+f440ff7222efcf03b218212e1e9f193b24a256cf	Hypokalemia, @PHENOTYPICFEATURE$ and hypouricemia due to proximal renal tubular dysfunction in @DISEASE$.	false
+1ce54fcd438a2a049b6a2870f59ca8d3ff0bcc03	We report a case of @DISEASE$ receiving unrelated BMT to develop acute @PHENOTYPICFEATURE$ rapidly after intravenous injection of naloxone.	false
+7b58b52c6396562b970dcb26a004b79ed80b6d9d	Clinical features consistent with the diagnosis of Johanson-Blizzard Syndrome in a term neonate are described: intra-uterine growth retardation, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, @PHENOTYPICFEATURE$, and lethal congenital heart defects with @DISEASE$.	false
+c485e4d09a75f613046e4d0071604b04e3daab32	Clinical features consistent with the diagnosis of Johanson-Blizzard Syndrome in a term neonate are described: intra-uterine @PHENOTYPICFEATURE$, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, deafness, and lethal congenital heart defects with @DISEASE$.	false
+27e1ba8790b54cf601d74e846484e01f662cc379	@DISEASE$ is a rare condition frequently associated with multiple and complex @PHENOTYPICFEATURE$.	false
+f468c1a6eb096e43e1d9e83dbbcc6e5a92bcd679	Anesthetic management of labor in a patient with @DISEASE$, congenitally corrected transposition, Wolff-Parkinson-White syndrome, and @PHENOTYPICFEATURE$.	false
+3010cc3d7d5928aaa58654748d7319fd708eda55	In the case reported here respiratory symptoms and @PHENOTYPICFEATURE$ were present in a 1-month hypotrophic infant who also had ventricular septal defect and @DISEASE$ due to right lung hypoplasia.	false
+c5e2626727f21e236c389a95c0b96bbf761f6a5b	Peripheral opacities in @DISEASE$: the photographic negative of @PHENOTYPICFEATURE$.	false
+323d53f45dfbf64c6b90cb14dafde226571537b6	Because of peripheral eosinophilia and bilateral @PHENOTYPICFEATURE$ patient investigated comprehensive and @DISEASE$ determined histopathologically.	false
+dd938a0a53e99c7f21538b9d3a173a6a992fbe63	Acute illness characterized by @PHENOTYPICFEATURE$, cough, chest pain and pulmonary infiltrates on chest film is characteristic of patients witb @DISEASE$ and with sickle-C disease.	false
+a8b7618bb1d77e66ff2f84a15ae77dd08d5a9c8f	Its efficacy is documented in cognitive disorders and dementia, @PHENOTYPICFEATURE$, cortical myoclonus, dyslexia, and @DISEASE$.	false
+8cd5b9868136aa0a8aa4865bb3fed644b8347a77	Previous studies have suggested an association of zinc deficiency and @PHENOTYPICFEATURE$ in some children and adults with @DISEASE$ (SCD).	false
+e47bfece1bfe37ac1c4c7d2144c29d25749f1b43	Sickle retinopathy (SR) is a major cause of @PHENOTYPICFEATURE$ in @DISEASE$ (SCD).	false
+bd652845b196c72c9b2237d10a0162dc6794e8f1	Children with @DISEASE$ (SCA) frequently have @PHENOTYPICFEATURE$.	false
+079fa07fcabd280f54bc24b4f6cbf7fdbb76fe4c	There is a high incidence of delayed sexual development and @PHENOTYPICFEATURE$ during childhood in children with @DISEASE$ (SCA).	false
+64973a59bd3ef5074dbd3ce31ed9879c6110fa36	Acute chest syndrome in the patient with @DISEASE$ is characterized by @PHENOTYPICFEATURE$, leukocytosis, cough, chest pain, and pulmonary infiltrates in the chest radiograph.	false
+5198ad0bf03f098e8b69d523b8fefbeb37325658	Specific conditions discussed are rheumatoid arthritis, crystal deposition arthropathies, osteoporosis, diffuse idiopathic skeletal hyperostosis, diabetes mellitus, hypertrophic osteoarthropathy, Paget's disease, @PHENOTYPICFEATURE$, sarcoidosis, @DISEASE$, and acromegaly and their effects on the heel.	false
+becaeeb5492acf51f61238a028d2271833cdd8ef	@PHENOTYPICFEATURE$ in children with @DISEASE$ correlates with alterations in the IGF-I axis.	false
+5f5b6f948442b97297e64b55e3f0fff61376d04b	@DISEASE$ and monocular @PHENOTYPICFEATURE$ in Africans.	false
+c71ac9994e1ce9ce910b89d139316582be413f18	The SLX4/@DISEASE$ @PHENOTYPICFEATURE$ suppressor has emerged as a key player in the maintenance of genome stability, making pivotal contributions to the repair of interstrand cross-links, homologous recombination, and in response to replication stress genome-wide as well as at specific loci such as common fragile sites and telomeres.	false
+08f910fb4ae626a57f702c27c9ff8f27b48a1784	The @DISEASE$ protein is a @PHENOTYPICFEATURE$ suppressor that may act as a key regulator that engages the cell into specific genome maintenance pathways.	false
+a2f217f43a162ae1ec9e3d509fad39d780cd9841	Class III multidrug resistance P-glycoproteins, mdr2 in mice and MDR3 in human, are canalicular phospholipid translocators involved in biliary phospholipid (phosphatidylcholine) excretion.The role of a MDR3 (ABCB4) gene defect in liver disease has been initially proven in a subtype of progressive familial intrahepatic cholestasis called PFIC3, a severe pediatric liver disease that may require liver transplantation.Several MDR3 mutations have been identified in children with PFIC3 and are associated to low level of phospholipids in bile leading to high biliary cholesterol saturation index.MDR3 mutations are associated to loss of canalicular MDR3 protein and /or to loss of protein function.There is evidence that biallelic or monoallelic MDR3 defect causes or predisposes to 6 human liver diseases (PFIC3, adult biliary cirrhosis, @DISEASE$ syndrome, transient neonatal @PHENOTYPICFEATURE$, intrahepatic cholestasis of pregnancy, drug induced cholestasis).Some patients with MDR3 deficiency may benefit from ursodeoxycholic acid therapy and could be good candidates to a targeted pharmacological approach and/or to cell therapy in the future.	false
+c915df0aec1d0c8a3660d071aa5bb22647785be9	@DISEASE$ (CS) is a rare multiple congenital disorder caused by activating germline mutations in HRAS gene and is characterized by coarse facial features, severe feeding difficulties, failure to thrive, mild to severe @PHENOTYPICFEATURE$ postnatal growth retardation, cardiac abnormalities or cancer predisposition.	false
+0043a4ddf2c594539cbcb08572f06d8471c258c3	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, @DISEASE$, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+c642fc0cb46d5ff290765ad8c948403e772a2c42	A comparison of the hemodynamic data of children with Trisomy 21 with @DISEASE$, and children without Trisomy 21 of the same age with ventricular septal defect showed the pulmonary arterial resistances to be significantly higher in the group with Trisomy 21, suggesting that Trisomy 21 plays a role in the pathogenesis of severe early pulmonary @PHENOTYPICFEATURE$.	false
+ded22f8ad0dce25a41edc12ac3f90f71c3547c3f	In addition, various disorders are reported like ventricular septal defect (@DISEASE$), mitral and tricuspid valves defects, aortic septal defect (ASD), reduction of lung and lung vessels' resistance, pulmonary @PHENOTYPICFEATURE$, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot.	false
+d03e1360d0e0f87a5960ceae0c2e598c4e83bdd3	As the name suggests, the feature involves @PHENOTYPICFEATURE$ mainly involving upper limb, that is, upper-extremity malformations involving radial, thenar, or carpal bones; congenital heart diseases like, atrial-septal defect and @DISEASE$ and conduction problems.	false
+4f94216c8b2cfded546fe9b471123dcdd6e3b77d	@DISEASE$ investigators have published important studies demonstrating that childhood vaccines are not associated with @PHENOTYPICFEATURE$ or other developmental disabilities.	false
+9ee1a33350169b8ead79b158406707fdf0772af5	Congenital malformation of the heart associated with congenital anomalies of the urinary tract, including a syndrome of @DISEASE$, pulmonary @PHENOTYPICFEATURE$, mental retardation, and skeletal deformity.	false
+218d072fe0d04ff0f972ff1fe989c4e42a6b6fb4	A hypothesis testing case-control study evaluated automated medical records in the Vaccine Safety Datalink (@DISEASE$) for organic Hg exposure from Thimerosal in Haemophilus influenzae type b (Hib)-containing vaccines administered at specific times within the first 15?months of life among subjects diagnosed with @PHENOTYPICFEATURE$ (PDD) (n?=?534) in comparison to controls.	false
+08b92abba24f600d29e86921ef8fa66828435ad8	Autopsy revealed a 2mm area of @DISEASE$, agenesis of the right kidney and ureter, pancreatic and renal aberration into right adrenal gland, @PHENOTYPICFEATURE$ and an unfixed ascending colon without intestinal malrotation.	false
+00943ed172ca25166c0220f3724886dcb2ff9745	The cardiologic examination revealed a significant @DISEASE$, hypoplasia of the aortic arch, pulmonary @PHENOTYPICFEATURE$, decompensated circulatory failure and moderate left ventricle dysfunction.	false
+b713a822bf78854eb6cb2e0a067774081cbac0fd	The other patient had a @DISEASE$ with a mitral cleft, pulmonary @PHENOTYPICFEATURE$, and Down's syndrome.	false
+98331dd2a100473394632f1ccc7928779c429ea1	The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8ff7586d297b2c8d436b36242e8851cc227062bf	Six factors (age under 40, female, clenching habit, history of extrinsic trauma, @PHENOTYPICFEATURE$, and family history of TMD) were tested for their relative risk in precipitating and perpetuating each @DISEASE$ symptom by the use of its confidence interval to define significance.	false
+10bc8a6a77ad5315dc94770957b32b3a3e1acb66	Six factors (age under 40, female, clenching habit, history of extrinsic trauma, @PHENOTYPICFEATURE$, and family history of @DISEASE$) were tested for their relative risk in precipitating and perpetuating each TMD symptom by the use of its confidence interval to define significance.	false
+548ce1ebc3900f5b6d4c86ca1cb2274c95e38c2e	Respondents who most often reported CAM treatment as "very helpful" for their @DISEASE$ were likely to be healthier (i.e., reporting higher levels of exercise and fewer @PHENOTYPICFEATURE$).	false
+8b5ad65a99dfb1fd875bd11d42189ea3bf34f255	This article reviews recent studies on epidemiology, sex differences, pediatric TMD, classification systems, comparisons to other chronic pain disorders of uncertain etiology, psychological assessment, depression, central modulation and hypervigilance, @PHENOTYPICFEATURE$, stress, and the management of @DISEASE$ by conservative physical interventions and cognitive behavioral therapy.	false
+ea0c73712515bb3a6af47d77d1fbc8ec9c6c67b1	This article reviews recent studies on epidemiology, sex differences, pediatric @DISEASE$, classification systems, comparisons to other chronic pain disorders of uncertain etiology, psychological assessment, depression, central modulation and hypervigilance, @PHENOTYPICFEATURE$, stress, and the management of TMD by conservative physical interventions and cognitive behavioral therapy.	false
+8d9ab4476dd7e8fd7f0b9d18b70b7878d7f8f601	Overall, the nonresponding @DISEASE$ and IBS groups did worse in the neuropsychologic assessment than the responding TMD group, with higher memory deficits, levels of depression and fatigue, more @PHENOTYPICFEATURE$, and lower energy levels.	false
+06b98b795c022ce82b5a89f06e35fa33c2b0e947	Overall, the nonresponding TMD and IBS groups did worse in the neuropsychologic assessment than the responding @DISEASE$ group, with higher memory deficits, levels of depression and fatigue, more @PHENOTYPICFEATURE$, and lower energy levels.	false
+800b3a40b6ec1500d2faddbc01cd494f911713c4	To investigate the prevalence of @PHENOTYPICFEATURE$ and psychologic distress in a population of Chinese patients with temporomandibular disorders (@DISEASE$) and whether sleep disturbance and psychologic distress are risk indicators for TMD.	false
+1073fda0bbca7217bb761c6e6a5b619c31d8cace	To investigate the prevalence of @PHENOTYPICFEATURE$ and psychologic distress in a population of Chinese patients with temporomandibular disorders (TMD) and whether sleep disturbance and psychologic distress are risk indicators for @DISEASE$.	false
+c5963ca8410193bc35174c64311669e9dcac9704	Compared to TMD subtype 1, TMD subtype 2 patients reported intermediate scores, and the most vulnerable @DISEASE$ subtype 3 had the poorest general health, most elevated depression, somatization, worry and @PHENOTYPICFEATURE$, and poor coping ability (P < .05).	false
+98ac13713824310d37b3ce611fedabf7a12736b9	Compared to @DISEASE$ subtype 1, TMD subtype 2 patients reported intermediate scores, and the most vulnerable TMD subtype 3 had the poorest general health, most elevated depression, somatization, worry and @PHENOTYPICFEATURE$, and poor coping ability (P < .05).	false
+1de90ef867ae6746df7260e5324c11feeb1962c0	After Bonferroni corrections, a significant correlation was detected between the @PHENOTYPICFEATURE$ parameter and mechanical detection threshold (MDT) in @DISEASE$ pain patients (? = 0.427, P < .001).	false
+be2f0acc6b6ec554ee35263b6701364cd89d49aa	Subjects with aural symptoms were significantly more likely to be female; to consider themselves in poor health; to smoke; or to have @DISEASE$, orofacial pain, headaches (temporal, occipital, or frontal), neck and shoulder pain, altered vision and sensation, @PHENOTYPICFEATURE$, loss of appetite, memory loss, or low energy.	false
+8a440bafb9aad16de309d49d9bb7dbd01a7e68c5	Subjects with aural symptoms were significantly more likely to be female; to consider themselves in poor health; to smoke; or to have @DISEASE$, orofacial pain, headaches (temporal, occipital, or frontal), neck and shoulder pain, altered vision and sensation, sleep disturbances, loss of appetite, @PHENOTYPICFEATURE$, or low energy.	false
+1454e8821277732d1a01ba01030b439dab13552b	This study supports the frequent comorbidity of reported @PHENOTYPICFEATURE$, perceived pain severity, and psychologic distress in patients with @DISEASE$.	false
+c445c5124fe34dcc9703f1a360490602baf8c207	These results show that reported poor sleep quality in @DISEASE$ is better explained by depressive symptoms than by PSG-assessed @PHENOTYPICFEATURE$ or myofascial pain.	false
+968f0758c82fadeebb3bc4a6e424221312fc6133	Clinicopathological aspects in the treatment of infantile @PHENOTYPICFEATURE$ @DISEASE$.	false
+e563ca4a67539b5d132172aebb2377e40c40e92c	A prenatal finding of @DISEASE$ associated with @PHENOTYPICFEATURE$ and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS.	false
+098b9c656b0528a8170935a8adf86703ece63c42	@PHENOTYPICFEATURE$ were found in eight infants who had posthemorrhagic @DISEASE$ and two who had ventriculomegaly.	false
+2effe231777c703dac808a7b038c4c3c715b7062	Oculomotor nerve @PHENOTYPICFEATURE$ associated with acute @DISEASE$: case report.	false
+fa2633139d60e82ecd91e64a8f7507d5b50fa606	had craniofacial and @PHENOTYPICFEATURE$ and died at 8 months of @DISEASE$.	false
+a53d52abef1b48815433cbb753846ff3c04aa21a	Oculomotor nerve @PHENOTYPICFEATURE$ can cause acute @DISEASE$ and manifest as impaired consciousness.	false
+49326fb6120f9acbf53d3eb9fd70235b056814c8	Myomectomy during the first trimester associated with fetal @PHENOTYPICFEATURE$ and @DISEASE$ in a twin pregnancy.	false
+2566387eb41c03f22a432747b5638c71c9571936	@PHENOTYPICFEATURE$ @DISEASE$ developed in infancy.	false
+90692fc4b475d8486659a5eaf722e9763cdc554a	Successful ECT in a patient with @DISEASE$, shunt, @PHENOTYPICFEATURE$, and paraplegia.	false
+fb104f65cb3b3c07cdb6406b4c32a1146ea05ab7	[Peculiar relations between a paramyoclonic syndrome and @PHENOTYPICFEATURE$ @DISEASE$].	false
+207da4b7697df2d760208530973f8332668f132b	These @PHENOTYPICFEATURE$ overlap in terms of tumor @DISEASE$ presentation, and noradrenergic phenotype to a certain extent.	false
+6c5e2c3d1f0b7c14e8b513b493d7b513c4ad8ebc	These tumors overlap in terms of @PHENOTYPICFEATURE$ @DISEASE$ presentation, and noradrenergic phenotype to a certain extent.	false
+4de778cc540725c1f9cbc8dd383ae1262b25556a	There were 27 different pseudoretinoblastoma conditions, and the 10 most common included Coats' disease (n = 244; 40%), persistent fetal vasculature (PFV; n = 158; 28%), vitreous hemorrhage (n = 27; 5%), ocular toxocariasis (n = 22; 4%), @DISEASE$ (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%), combined @PHENOTYPICFEATURE$ of retina and retinal pigment epithelium (n = 15; 2%), and endogenous endophthalmitis (n = 10; 2%).	false
+2ea68fb94c5216f10d9345415258038c57630b38	There were 27 different pseudoretinoblastoma conditions, and the 10 most common included Coats' disease (n = 244; 40%), persistent fetal vasculature (PFV; n = 158; 28%), vitreous hemorrhage (n = 27; 5%), ocular toxocariasis (n = 22; 4%), @DISEASE$ (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic @PHENOTYPICFEATURE$ (n = 15; 2%), combined hamartoma of retina and retinal pigment epithelium (n = 15; 2%), and endogenous endophthalmitis (n = 10; 2%).	false
+0bec9b434adacb8c88673f5e7e5548d209cb53c1	Other studies had revealed heterozygous mutations in the sodium phosphate co-transporter NaPi-IIa as the cause of hypophosphatemia associated with hypercalciuria and @PHENOTYPICFEATURE$, and homozygous or compound heterozygous mutations in NaPi-IIc were shown to cause @DISEASE$.	false
+8ebc304344ad48612f58a5cf40867da46c401326	This overview details the clinical description of the @DISEASE$ and associated disorders, their diagnosis and molecular/genetic testing, as well as differential diagnosis for assessment of other @PHENOTYPICFEATURE$-associated syndromes.	false
+221f2b5babccab8d15a3b41b6efa7a267d229005	In the context of @DISEASE$ (PHTS), this AST is referred to as PTEN @PHENOTYPICFEATURE$ of soft tissue.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+658c32471c8f7579207bf50d0c75340f72db5221	@PHENOTYPICFEATURE$ in siblings with @DISEASE$: CT and MRI.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+df23985eef79d00444d14a525ad2859247b99fb9	[Familial @DISEASE$ with chronic hypernatremia and @PHENOTYPICFEATURE$].	false
+ac6284e63e54d6aea4a39496e6d050e6e4e77c68	@DISEASE$ presenting with developmental delay and @PHENOTYPICFEATURE$.	false
+c37b8b763778cd1a6ac512f3f97c23c02d8e26c5	A 6-year-old boy with @DISEASE$ (NDI) and @PHENOTYPICFEATURE$ is reported.	false
+c233bfb7b05cfe7d6872549a44915a4e3c3bd30a	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$ in children.	false
+f3238ea9afa31414b904c0d4b04e97f90220adcc	Prevention of @PHENOTYPICFEATURE$ and brain damage associated with @DISEASE$.	false
+02c4d645b3dbbbaccba65ba4a2a35dd9f8d13bb0	@DISEASE$ (TBS) is an autosomal dominantly inherited disorder characterized by ear, anal, limb, and @PHENOTYPICFEATURE$, and results from mutations in the gene SALL1.	false
+6a5cd36656de943138a3ce358fda486724c4911c	Townes-Brocks syndrome (@DISEASE$) is an autosomal dominantly inherited disorder characterized by ear, anal, limb, and @PHENOTYPICFEATURE$, and results from mutations in the gene SALL1.	false
+dd2ac032eed2e0e660275eb8d53b8302f2e30053	To investigate the effect of @PHENOTYPICFEATURE$ on @DISEASE$ and bone mineral density (BMD) in subjects with PHPT at baseline and through 2 years after parathyroidectomy.	false
+3e87835ccf79fdd261b8fa9b3cf030f7a91ff612	These severe @PHENOTYPICFEATURE$ have not previously been reported in a familial case of @DISEASE$.	false
+8a3991aeaee400e5d8403f6f8eb6efe14fcfe7b4	We report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a @DISEASE$ phenotype including external ear anomalies, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, @PHENOTYPICFEATURE$, and right preaxial polydactyly as well as an epibulbar dermoid.	false
+ee7a1c841deda563288eb750fc7e21455f9d0824	SALL1 plays a critical role during kidney development as mutations of the human SALL1 gene cause @DISEASE$, which is associated with @PHENOTYPICFEATURE$.	false
+64ccf20a9c59912a7898d0dc0107e93554f64ed7	@DISEASE$ is an autosomal dominant multiple malformations syndrome comprising of ear anomalies/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+6388b30ccdce5288ef14a201171918fd65d2afa2	It is proposed that the clinical spectrum of the @DISEASE$ must be extended to include @PHENOTYPICFEATURE$, auricular changes differing from those previously described, and anomalies of other internal organs.	false
+b3736be534f07d1c265f8a4a48e60db37c5b5661	The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and @PHENOTYPICFEATURE$ in addition to classical ear, radial, and anal findings of @DISEASE$.	false
+0246d17314937f124c12eaa5fe8e064db0a682f2	To report novel spectral domain optical coherence tomography (SD-OCT) findings and new mutational data in patients with '@DISEASE$', a recessive childhood onset @PHENOTYPICFEATURE$ consequent upon mutation in the KCNV2 gene.	false
+085b08696115f792c392a265f685174fdb7fed1b	Molybdenum cofactor deficiency (@DISEASE$) is a rare, @PHENOTYPICFEATURE$ disorder caused by sulphite oxidase enzyme deficiency.	false
+b4bc397b89fe49530931124ffdfdb5a6aad90fe4	We aimed to investigate the relationship of callosities of the forefoot with @PHENOTYPICFEATURE$, the Health Assessment Questionnaire Disability Index (HAQ-DI) and modified total Sharp score (@DISEASE$) in patients with rheumatoid arthritis (RA).	false
+ac8e74efe334dc42ffdeabb95f502fbd5aecc97f	Irradiation at any dose (?1000 Gy) did not affect passionfruit quality (overall fruit quality, colour, firmness, fruit shrivel, stem condition, @PHENOTYPICFEATURE$, total soluble solids level (@DISEASE$), titratable acidity (TA) level, TSS/TA ratio, juice pH and rot development), nor the total ascorbic acid concentration.	false
+a4ed3f4d840ababdf8288c0b32adf2f17d50646e	The results showed that uncoated fruits showed higher respiration rate, @PHENOTYPICFEATURE$, L* and b* values of arils, total soluble solids (@DISEASE$)/titratable acidity (TA), and pH than coated fruits during storage.	false
+7d6222f88c595cfcb8cc2a5b9770e061831dd9e8	@DISEASE$ @PHENOTYPICFEATURE$ overexpress HIF1alpha and hypoxia pathway genes.	false
+8e11cfb7b80b8d90b50b276cf725ecb5c7a3e69f	Wilms @PHENOTYPICFEATURE$ as a possible early manifestation of @DISEASE$?	false
+4ebac32f1f3b9de06152f1cdffdd9ce9068fa9ea	Cutaneous leiomyomasare rare @PHENOTYPICFEATURE$ of smooth muscle origin associated with disorders such as @DISEASE$ (HLRCC) syndrome.	false
+39d7a927bd14cb3bce5c8f95c85ec9d769c1d0c6	Cutaneous leiomyomasare rare @PHENOTYPICFEATURE$ of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (@DISEASE$) syndrome.	false
+e959bcfd26f3102d800409a80e93001ad5b1f88b	These findings suggest that increasing ROS level in HLRCC above a certain threshold can induce @DISEASE$-@PHENOTYPICFEATURE$ cell death.	false
+975e050bfe90ccc28ffda5a1f5ea84ff44feb32c	Recent findings have established an emerging group of fumarate hydratase (FH)-deficient @PHENOTYPICFEATURE$ related to hereditary leiomyomatosis and renal cell carcinoma (@DISEASE$-RCCs) syndrome within this morphologic spectrum.	false
+317fa58015f8b28eef852c03ae82cdcd2f52df72	Recent findings have established an emerging group of fumarate hydratase (FH)-deficient @PHENOTYPICFEATURE$ related to @DISEASE$ (HLRCC-RCCs) syndrome within this morphologic spectrum.	false
+3d00d1727259602d5b2661c9cee027c70d60186e	All 11 investigated @PHENOTYPICFEATURE$ displayed the papillary type 2 histopathology typical for @DISEASE$ renal tumors.	false
+dc1456e0b652132fbba6d81d9757c72e01f0e293	Furthermore, immunostaining for 2SC is a sensitive and specific biomarker for @DISEASE$ @PHENOTYPICFEATURE$.	false
+e7f463f99c52b51a70e10357126a68c571332065	Few FH mutations in sporadic counterparts of @PHENOTYPICFEATURE$ types observed in @DISEASE$ families.	false
+4b6650fc5cd85f1611cfccab70c04a8b9ba1fb2b	Bortezomib induced apoptosis in vitro in HLRCC cells and inhibited @DISEASE$ @PHENOTYPICFEATURE$ growth in vivo.	false
+04c25c84dfdfa7904d7a1157772fa5632deee23f	This regimen induced @DISEASE$ @PHENOTYPICFEATURE$ regression in vivo.	false
+d7cd540f5f9722b0a39211441e3d00686440b1f6	Alternative diagnoses included hepatitis B, C, and E, CMV, EBV, ischemic hepatitis, autoimmune hepatitis, primary biliary cirrhosis, primary sclerosing cholangitis, hemochromatosis, Wilson's disease, @DISEASE$, fatty liver, non alcoholic steatohepatitis, alcoholic liver diseases, cardiac and thyroid causes, rhabdomyolysis, polymyositis, postictal state, @PHENOTYPICFEATURE$, lymphomas, chlamydial and HIV infections.	false
+f0e12f87d6824e604a90a14ee93fc3cadcf054aa	Unconjugated hyperbilirubinaemia of an extreme degree should raise suspicion of additional factors, such as @DISEASE$, hepatocellular dysfunction or @PHENOTYPICFEATURE$.	false
+b89a19eef261de2ec21ad72261f4d4e7e2a7bcf6	We report a 39-year-old man with seven-year history of adult onset Still's disease (@DISEASE$) who developed left abducens palsy and @PHENOTYPICFEATURE$.	false
+a34999cdce31fd9cb26705fe745cc831ee808019	We analyzed the prognostic factors for the 2 groups, and found that pleuritis, interstitial @PHENOTYPICFEATURE$, elevated ferritin levels, and failure of fever to subside after 3 days of prednisolone at 1 mg/kg/day were unfavorable prognostic factors for patients with @DISEASE$.	false
+0720d05f698c918731f5fcd612ec55e8b6d89813	A 67-year-old Japanese woman had been treated with oral predonisolon and tacrolimus for @DISEASE$ and interstitial @PHENOTYPICFEATURE$.	false
+ca89ea0fe08f3c26a84c116f3720342161c03327	Six patients (60%, p < 0.01) with @DISEASE$ experienced side effects ranging from mild ones like abdominal pain, @PHENOTYPICFEATURE$, urticaria, and facial flushing to severe ones such as high fever, hypotension, and severe myelosuppression as well as fulminant hepatitis, which led to the death of one patient.	false
+2097445aba7d6209b7578e5cfe4fe73ab81cccca	@DISEASE$ (FXS) is the most common heritable form of @PHENOTYPICFEATURE$.	false
+d0f3cedde8581754a2257406d07516552a070dd5	Fragile X syndrome (@DISEASE$) is the most common heritable form of @PHENOTYPICFEATURE$.	false
+9aa0132c81acfe56c99aa021fc39d5f2d4072d6e	Fragile X syndrome (@DISEASE$) is the most commonly inherited form of @PHENOTYPICFEATURE$ and autism.	false
+e09afe285ac6dd71b39079940fe33e53e4f397f5	@DISEASE$ (FXS) is the most commonly inherited form of @PHENOTYPICFEATURE$ and autism.	false
+5479dbd096494b14892da51eb5db5edea2080b78	The @DISEASE$ is a common cause of @PHENOTYPICFEATURE$.	false
+b6f90f524d2ae38747e12549868a01795a2bcf45	@DISEASE$ (FXS), a trinucleotide repeat disorder, is the most common heritable form of @PHENOTYPICFEATURE$.	false
+a505009039ed3d758abd3fa66f61d7d062429a51	Fragile X syndrome (@DISEASE$), a trinucleotide repeat disorder, is the most common heritable form of @PHENOTYPICFEATURE$.	false
+dc6e0f4fb5e455960569df150e0fa9599779fbc1	@DISEASE$: panoramic radiographic evaluation of @PHENOTYPICFEATURE$, dental mineralization stage, and mandibular angle.	false
+b2d18179cc0dc0c83c811df00a5dad13c1180d40	@DISEASE$ is a common inherited form of @PHENOTYPICFEATURE$.	false
+9640886b07d610a995fe266f3e0480191b02591c	@DISEASE$ (FXS) is the most common inheritable form of @PHENOTYPICFEATURE$, including autism.	false
+acf570a80e4dcb8cbc27b86ffbb8aad07eb3fda3	Fragile X Syndrome (@DISEASE$) is the most common inheritable form of @PHENOTYPICFEATURE$, including autism.	false
+7535627a78c6483e4561a3a3e917c0256d24cef8	Fragile X syndrome (@DISEASE$) is characterized by immature dendritic spine architectures and @PHENOTYPICFEATURE$.	false
+87506a61518899b530fa19465c53a0aba84eaf70	@DISEASE$ (FXS) is characterized by immature dendritic spine architectures and @PHENOTYPICFEATURE$.	false
+28ed61061bea5661a98cf44e0c80af543bc042d7	Fragile X syndrome (@DISEASE$) is a neurodevelopmental disorder and a leading monogenic form of @PHENOTYPICFEATURE$ and autism.	false
+ab0f5f84058c6d23a2d3fa6a650977eb379eb434	@DISEASE$ (FXS) is a neurodevelopmental disorder and a leading monogenic form of @PHENOTYPICFEATURE$ and autism.	false
+118cbd2b881336e7cb4775daf4d822a00d2e054e	@DISEASE$ is the most common inherited form of mental impairment characterized by @PHENOTYPICFEATURE$, attention deficit and autistic behaviours.	false
+d8c719b73b6cf04a5d13a60817c2ca061f35d37a	@DISEASE$ is the most common inherited form of @PHENOTYPICFEATURE$ characterized by cognitive impairment, attention deficit and autistic behaviours.	false
+88bd3acc1865c3cf61d671ae89b6ee20b3b30243	In patients with @DISEASE$, uveitis was more frequent among younger patients, patients with earlier onset of HAM/TSP, and patients with severe motor @PHENOTYPICFEATURE$.	false
+43ee810956c9aeebf64a7ab69cc69cd10d2db217	It seems that repetitive transcranial magnetic stimulation could decrease @PHENOTYPICFEATURE$ and pain in patients with @DISEASE$, and this effect could persistently continue by 1 month, but it did not influence patients' muscle power and quality of life, and it could be used as an adjuvant therapy in patients suffering from human T-lymphotropic virus type 1-associated HAM/TSP.	false
+11d9a36a5413182995f8dee23036a8d63f02c4ca	Association of cytokines, neurological @PHENOTYPICFEATURE$, and disease duration in @DISEASE$ patients.	false
+c08236747736de5d0d51c6d9051533dcc39f9d85	The major manifestations in the patients with @DISEASE$ were weakness and @PHENOTYPICFEATURE$ of the lower limbs with upper motor neurone signs and minimal sensory loss and bladder dysfunction.	false
+2679919da4c2bca2a636995547caa7271a73ed15	Some infected subjects develop an @DISEASE$ (HAM/TSP), a condition characterized by @PHENOTYPICFEATURE$, weakness in lower limbs, and difficulty in walking long distances and going up and down the stairs, besides the history of falls.	false
+d40aed616bd464ef4897481180ebbfe7fa0d510c	Patients with @DISEASE$ exhibit a similar clinical pattern of muscle weakness and @PHENOTYPICFEATURE$, with a high risk of falls, requiring gait-assistance devices.	false
+9e600fe9d3e26589afecdc91bbbb54082eb78412	Using the International Classification of Functioning, Disability and Health as a tool for analysis of the effect of physical therapy on @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+ebafc5f00279bf4b3f6ec89b81972df65c997347	People with human T-cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis (@DISEASE$) develop @PHENOTYPICFEATURE$.	false
+6a2297b06ea27ff7fde02a2d2a1dba2d02a56c82	Coma, @PHENOTYPICFEATURE$, @DISEASE$, ataxia, nystagmus, miosis, hallucinations, convulsions, fasciculation and paralysis may then ensue.	false
+f4b578011aeb5d0e0eba421c3e561c1388a047ed	@PHENOTYPICFEATURE$, hypertonia, @DISEASE$, ataxia, nystagmus, miosis, hallucinations, convulsions, fasciculation and paralysis may then ensue.	false
+eb5f5f1a945e758e4dbe93a399a10631acc82a33	Coma, hypertonia, @DISEASE$, @PHENOTYPICFEATURE$, nystagmus, miosis, hallucinations, convulsions, fasciculation and paralysis may then ensue.	false
+b7d6f162ca47250cb7eaf77be9be0756a608db73	Drug withdrawal also left dose- and time-dependent sequelae like @PHENOTYPICFEATURE$, hypertonia, @DISEASE$ and alterations of balance.	false
+3669296ec958d738c40926c616645dce6d48b09b	Drug withdrawal also left dose- and time-dependent sequelae like ataxia, @PHENOTYPICFEATURE$, @DISEASE$ and alterations of balance.	false
+2b80d1ecaed9a6370503a0e5d17a1483d7cb002e	Principal features are microcephaly, facial disproportionality, cutis girata, @PHENOTYPICFEATURE$/spasticity, @DISEASE$, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	false
+4bfbaec2c678cb0f7dedc6fbccf760e8c19e6354	Principal features are microcephaly, facial disproportionality, cutis girata, hypertonia/@PHENOTYPICFEATURE$, @DISEASE$, and irritability; abnormal neuroimages include calcifications, ventriculomegaly, and lissencephaly.	false
+4ded8ab8b804015cfa41ee88dba5c3bd091c3af2	Neurotoxic features included coma, hypertonia, @DISEASE$, @PHENOTYPICFEATURE$, nystagmus, miosis, hallucinations, convulsions, fasciculation, and paralysis.	false
+af99432a62632bba344537226aab6191fde7dd03	Neurotoxic features included coma, @PHENOTYPICFEATURE$, @DISEASE$, ataxia, nystagmus, miosis, hallucinations, convulsions, fasciculation, and paralysis.	false
+0bdb10ce32d1f8a256db2d805be28caad6c454e8	After complete transection of the spinal cord, the tail became ventroflexed in a midline position and exhibited spasticity, i.e., @PHENOTYPICFEATURE$, @DISEASE$, and clonus.	false
+bf5d14001d64addc2cd7e1a3b17b6eab5757b4ff	After complete transection of the spinal cord, the tail became ventroflexed in a midline position and exhibited @PHENOTYPICFEATURE$, i.e., hypertonia, @DISEASE$, and clonus.	false
+ab802ec351f26fe3f22689bf3faa61a4d62df54e	One of this is the Bickerstaff syndrome, characterized by ataxia, @PHENOTYPICFEATURE$, @DISEASE$ and external ophthalmoplegia.	false
+f3e06888d1a4fc21fca6bdbb09bdd0d0e796b027	One of this is the Bickerstaff syndrome, characterized by @PHENOTYPICFEATURE$, encephalopathy, @DISEASE$ and external ophthalmoplegia.	false
+97617721375b296f2ab505fc3fca73ac8c54f1ae	There was @PHENOTYPICFEATURE$ and @DISEASE$ in the affected limbs.	false
+4f452e1d55342ac3f08005bc7bdeb0d1aaad11ea	Neurological examination revealed dementia, abnormal eye movement, @PHENOTYPICFEATURE$, spastic paraparesis with @DISEASE$, bilateral Babinski signs, cerebellar ataxia and dysuria.	false
+1a95bb8a51ccb6ff57dd9e7b8c2549bce0b857a8	Neurological examination revealed dementia, abnormal eye movement, dysarthria, spastic paraparesis with @DISEASE$, bilateral Babinski signs, @PHENOTYPICFEATURE$ and dysuria.	false
+6e60359c08e5158135063e80b5ba7ac4a6b5a6d1	A neurological examination showed mental retardation, dementia, cataracta, @PHENOTYPICFEATURE$, rigidity, spasticity, severe atrophy of the distal muscles of his extremities, paraparesis, @DISEASE$, positive Hoffmann reflexes and Babinski signs, pes cavus and hammer toes.	false
+e2d06cf8f785b4b94467649cccc3e2d9579e7f4e	A neurological examination showed mental retardation, dementia, cataracta, cerebellar ataxia, rigidity, @PHENOTYPICFEATURE$, severe atrophy of the distal muscles of his extremities, paraparesis, @DISEASE$, positive Hoffmann reflexes and Babinski signs, pes cavus and hammer toes.	false
+c53c7855e5df2f9514084aa4518658ad7d34155d	A neurological examination showed @PHENOTYPICFEATURE$, dementia, cataracta, cerebellar ataxia, rigidity, spasticity, severe atrophy of the distal muscles of his extremities, paraparesis, @DISEASE$, positive Hoffmann reflexes and Babinski signs, pes cavus and hammer toes.	false
+d48573f6622f8e0751f6c10167705270df2c0234	It is characterized by autism, dementia, ataxia, stereotypic hand movements, @DISEASE$, @PHENOTYPICFEATURE$, and seizures.	false
+9751e0b64e20eacf2bcbb6a821ccbf2f75abf436	It is characterized by autism, dementia, @PHENOTYPICFEATURE$, stereotypic hand movements, @DISEASE$, spasticity, and seizures.	false
+0c707580d3247bed3ef17cec23510e64ae2df429	It is characterized by autism, dementia, ataxia, stereotypic hand movements, @DISEASE$, spasticity, and @PHENOTYPICFEATURE$.	false
+29199930a86d964d100f3abb632f35f2ded5c2e2	In comparison with non-CHN patients (n = 99), more @DISEASE$ patients were female, had lower BMI, @PHENOTYPICFEATURE$, shorter duration of Chinese herb use, less severe proteinuria, smaller kidney size, lower levels of hemoglobin and higher serum chloride levels (all p values <0.01).	false
+d82361fa38946625adaadb04cb61bbce2ff735aa	The urinary LMWP/albumin concentration ratio was strikingly higher in @DISEASE$ patients than in patients with glomerular albuminuria (CHN1 vs. DN and NS, P < 0.01) or moderate @PHENOTYPICFEATURE$ with elevated S beta 2m level (CHN2 vs. GN, P < 0.01), confirming the existence of a tubular proteinuria independent of glomerular albuminuria or overflow proteinuria.	false
+8ffa80062bf48b867cb64c4f397bb96c8240f1f1	In @DISEASE$ patients, levels of urinary NEP were significantly decreased in those with moderate @PHENOTYPICFEATURE$ (26.7 micrograms/24 hr; N = 21; P < 0.05) and almost abolished in end-stage renal failure patients (4.35 micrograms/24 hr; N = 5; P < 0.05).	false
+29e07cf3f7400938f26bbd372c07600e3f547019	This study attempted to reproduce the main features of human @DISEASE$ (@PHENOTYPICFEATURE$, tubular atrophy, and interstitial fibrosis) in a rat model similar to that of cyclosporin-induced nephropathy.	false
+6e3069daf4ee3306dd718257dac803d6648d0d24	To date, many cases of @DISEASE$ have been reported mainly as progressive @PHENOTYPICFEATURE$ in western countries.	false
+fcb39f10049e05f599f67e8161a13aa23d6ba78f	@DISEASE$ (ESCC) is one of the most common malignancies in the world, marked by dysphagia and @PHENOTYPICFEATURE$, bringing great suffering to patients.	false
+047ee9d0b3c3a47cc38ac264cb955a32c84b75c9	Mutations of FIG4 result in juvenile lethality and spongiform neurodegeneration in the mouse, and are responsible for the human disorders Charcot-Marie-Tooth disease, @DISEASE$ and polymicrogyria with @PHENOTYPICFEATURE$.	false
+32180ed3c399c7969ff5b55da48b51e37915a7da	@PHENOTYPICFEATURE$ renal crisis occurs in 2 to 5% of patients with systemic sclerosis, particularly those with @DISEASE$ in the first years of disease evolution.	false
+d2798c3bffe3c5e2aca798ee77a19de3f76b6bba	A case of early onset normotensive @PHENOTYPICFEATURE$ renal crisis in a patient with @DISEASE$.	false
+62fe1f283383737757c0296bc07d47dcae263c80	A 28-year-old female with @DISEASE$ presented to Hikone Municipal Hospital with subacute onset of somnolence, @PHENOTYPICFEATURE$ and frequent vomiting.	false
+b66d9696d2752c23fdd953ecd2fa5bee416c4a4a	Approximately half of individuals diagnosed with @DISEASE$ present with global @PHENOTYPICFEATURE$ and developmental psychopathologies.	false
+82c7f05a010088f2c4d067055bc5cc4f1270a0da	[@DISEASE$ without @PHENOTYPICFEATURE$, diagnosed in adulthood].	false
+cb188db34f9bb3a32ef116e6561b8350030e9b37	Thirty-six families with @DISEASE$ (TS) including 49 affected persons and 68 apparently unaffected first-degree relatives were examined for @PHENOTYPICFEATURE$.	false
+b6f1ff318127a7f4bc0e7f637e6ea82748efbeb8	The monogenic disorder @DISEASE$ (TSC) has high rates of ASD, epilepsy and @PHENOTYPICFEATURE$.	false
+74eb2a04efcc51c15d22c96f96c7278a0410abf3	We report a 15-year-old patient with @DISEASE$ or Bourneville's disease with history of @PHENOTYPICFEATURE$ for last 2 years and was currently on antiepileptic medication.	false
+99b1a410a1dc2153033ec8403549893e4e153492	Hemimegalencephaly, an uncommon sporadic nonfamilial congenital dysplastic @PHENOTYPICFEATURE$, constitutes a pathological spectrum of neuronal migration disorders, but consistently includes abnormal large neurons similar to those in the cortical tubers of @DISEASE$.	false
+26e443e3dd40613b831b1d54faa3090de8bd7825	MR findings in @DISEASE$ and correlation with seizure development and @PHENOTYPICFEATURE$.	false
+d74f9522ad3b828e2f177a6d681c3e268dfe37aa	A 49-year-old woman with @DISEASE$ visited our hospital complaining of left @PHENOTYPICFEATURE$.	false
+9f063f45470c730328ffc4fbf4e5faf28f76fb48	A 38-year-old woman with @DISEASE$, who had a past history of left nephrectomy and tumorectomy of the right kidney for bilateral renal angiomyolipomas, was admitted because of headache and @PHENOTYPICFEATURE$.	false
+a00641873f871fd798f422075a3fbc491920c67d	The purpose of this study was to explore the prevalence and nature of @PHENOTYPICFEATURE$ in @DISEASE$ (sIBM).	false
+e8ed1c9296a2ef715c751be77696c43346819eb9	Two of these children, one of whom had a sibling with @DISEASE$, presented with @PHENOTYPICFEATURE$.	false
+71ec552c2e5698b63dbc1ecf667f8110a9b76a95	Therefore, the @PHENOTYPICFEATURE$ was considered a silent @DISEASE$.	false
+d62234c8450bfb5899386f99d0751299b14f4827	We suggest that the designation "composite silent @DISEASE$ with adrenocortical cells" is an appropriate name for this @PHENOTYPICFEATURE$.	false
+a1cf9dc5c39e5e083811b3a7306a9539cf56906d	@DISEASE$ is a basophilic or chromophobe @PHENOTYPICFEATURE$ composed of cells which remain regulated by cortisol.	false
+a889f32a48aa6c7f7f16b22f9e8be18c289351ab	The @PHENOTYPICFEATURE$ resected by transsphenoidal surgery was histologically diagnosed as an @DISEASE$.	false
+360ccd01e5b3c6c4b1e479a9712bd5eb7527c7f3	In most of them, the @PHENOTYPICFEATURE$ was combined with either pituitary @DISEASE$ or hyperplasia.	false
+2999e9757ec5b182276313d03ab762532f96e4bc	Complexity of treatments for the CD prior to NS diagnosis, possibly reflecting @DISEASE$ aggressiveness, predicts long-term @PHENOTYPICFEATURE$ prognosis.	false
+6a2d768c54ceacee76ba700e566fba6ff223e5da	Immunohistochemical analysis of the @PHENOTYPICFEATURE$ tissue obtained on repeat surgery proved it to be an aggressive @DISEASE$.	false
+3e4239553e536cf58d7629a57d0f92473033cb4b	Eight @PHENOTYPICFEATURE$ showed the characteristic histochemical profile of @DISEASE$--amphophilic to basophilic, and periodic acid-Schiff-positive to some extent.	false
+73cb0e0154fd42a5504486c788ae74f8da1c7372	Compared with other secreting pituitary tumors, the @DISEASE$ seems to be the most biologically active @PHENOTYPICFEATURE$.	false
+b21fafea6217157baff718be4359af61a9e9d495	Because of its size, the @PHENOTYPICFEATURE$ was resected and found to have immunoreactivity for corticotropin (silent @DISEASE$).	false
+6e9718dac9e59b74e64d9a5f3b8ef44363c39804	SACS-gene related disorders have been associated with complex neurological phenotypes of early-onset cerebellar ataxia, @DISEASE$, spastic paraplegia, demyelinating neuropathy and variable ophthalmological, cognitive and psychiatric disturbances, but never related to pure @PHENOTYPICFEATURE$ phenotypes.	false
+990cc4f593b4f153bfc6eb18081b0b414025c3a9	Final aetiologies were postsurgical infundibulo-hypophyseal impairment (n=7), cerebral @PHENOTYPICFEATURE$ (n=8), Langerhans cell histiocytosis (n=3), septo-optic dysplasia (n=1), @DISEASE$ (n=1), and idiopathic (n=7).	false
+ff178a6177a9f4ebb67d76f02470af6fbf146cab	@DISEASE$, the result of a mutation in the gene encoding @PHENOTYPICFEATURE$ protein p63, causes ocular surface disease.	false
+fed313474147b893cd800673fd071694ff918b57	One of the laminopathic diseases is Hutchinson-Gilford progeria syndrome (@DISEASE$), which is caused by a spontaneous @PHENOTYPICFEATURE$ and characterized by premature aging.	false
+71a2acb4ad36f21b451d0c8dcd6c7d1299b5de55	One of the laminopathic diseases is @DISEASE$ (HGPS), which is caused by a spontaneous @PHENOTYPICFEATURE$ and characterized by premature aging.	false
+781c05f6a7a80da49fa5f5e59f5cbd1f6b98e9ff	Hutchinson-Gilford Progeria Syndrome (@DISEASE$) is a rare disease with a combination of @PHENOTYPICFEATURE$, bone abnormalities, premature ageing, and skin changes.	false
+3b8257f55056c9273220344a37946cdecf6de8f8	@DISEASE$ (HGPS) is a rare disease with a combination of @PHENOTYPICFEATURE$, bone abnormalities, premature ageing, and skin changes.	false
+bb75e1c9802f6ad699fd51bef8e57c62039e43f6	Hutchinson-Gilford progeria syndrome (@DISEASE$) is characterized by accelerated senescence due to a de novo @PHENOTYPICFEATURE$ in the LMNA gene.	false
+3b2fec45b5b401363429a549a8b725343ea9db3e	@DISEASE$ (HGPS) is characterized by accelerated senescence due to a de novo @PHENOTYPICFEATURE$ in the LMNA gene.	false
+34aef90c0271fec723cdf5d90893b43ec0e65b81	We show that a recurrent de novo @PHENOTYPICFEATURE$ in LEMD2 causes a nuclear envelopathy whose prognosis in adolescence is relatively good in comparison to that of classical @DISEASE$, and we suggest that the application of artificial intelligence to the analysis of patient images can facilitate the discovery of new genetic disorders.	false
+6c573125efeaa981387bf552e66769cea2b3143b	@DISEASE$ (HGPS) is a rare precocious aging syndrome caused by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called progerin, that cannot be processed to mature lamin A. Most HGPS patients have a recurrent heterozygous de novo @PHENOTYPICFEATURE$ in exon 11 of LMNA, c.1824C>T/p.G608G; this synonymous mutation activates a nearby cryptic splice donor site, resulting in synthesis of the mutant prelamin A, progerin, which lacks 50 amino acids within the carboxyl-terminal domain.	false
+fc41d8dc78fcf4a6e39670db6cfd7a57a5f94b21	Hutchinson-Gilford progeria syndrome (@DISEASE$) is a rare precocious aging syndrome caused by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called progerin, that cannot be processed to mature lamin A. Most HGPS patients have a recurrent heterozygous de novo @PHENOTYPICFEATURE$ in exon 11 of LMNA, c.1824C>T/p.G608G; this synonymous mutation activates a nearby cryptic splice donor site, resulting in synthesis of the mutant prelamin A, progerin, which lacks 50 amino acids within the carboxyl-terminal domain.	false
+886e040ad1efd82ce76425c2a7833dd83a7a7376	Hutchinson-Gilford progeria syndrome (HGPS) is a rare precocious aging syndrome caused by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called progerin, that cannot be processed to mature lamin A. Most @DISEASE$ patients have a recurrent heterozygous de novo @PHENOTYPICFEATURE$ in exon 11 of LMNA, c.1824C>T/p.G608G; this synonymous mutation activates a nearby cryptic splice donor site, resulting in synthesis of the mutant prelamin A, progerin, which lacks 50 amino acids within the carboxyl-terminal domain.	false
+be726d00bbcf37d3d5ab66522a52f0db8a6a44eb	Particularly, a de novo @PHENOTYPICFEATURE$ at G608G position impairs lamin A processing to produce the mutant protein progerin, which causes the @DISEASE$.	false
+483ab4a77a0cdc7e9fda0945460df253cfd2e091	[@DISEASE$ as a cause of @PHENOTYPICFEATURE$].	false
+3affc498dece171e8b3a8e8711a5f982faa92ec6	Because of the differences in the treatment plans, it might be very helpful for neurosurgeons to intraoperatively establish a diagnosis of spinal @DISEASE$, differentiated from other spinal intramedullary @PHENOTYPICFEATURE$.	false
+5c5ddd3f11b9c3fdfd3bbbac9af3415cc67f5366	@DISEASE$ and dysembryoplastic neuroepithelial collision @PHENOTYPICFEATURE$ in the foramen of Monro: case report.	false
+86345bfdfcaac08340b7e48007b67599cb066fee	@DISEASE$ usually appears as an isodense, or even hypodense, intraventricular @PHENOTYPICFEATURE$ on plain CT scan and shows minimal or no enhancement in postcontrast studies.	false
+eb328ae8dceba35aa6a7ed0d65dc6a877b52c870	@DISEASE$ is a rare, benign intraventricular @PHENOTYPICFEATURE$ and a case of septum pellucidum origin examined with CT and MR is reported.	false
+38085234ba89cd5a5f37a7e20b5047872827cd45	@DISEASE$ is a rare, slow growing, rarely recurrent @PHENOTYPICFEATURE$.	false
+2044f7dd6cfe4acabcdbb41c4698c95afacd59e6	@DISEASE$ are indolent @PHENOTYPICFEATURE$.	false
+54b1b53e7c1f4ddffef57dedccc79169cf2fff85	Likewise, in an intracranial xenograft model, overexpression of GluR1 led to perivascular and @DISEASE$ cell invasion similar to patterns of @PHENOTYPICFEATURE$ dissemination described in human glioblastoma.	false
+f1be0608e76c71bb60e4b19816533735246d091c	Imaging appearance of @DISEASE$: a rare @PHENOTYPICFEATURE$ of the cord.	false
+87ec826d66945b03574262e6e7d5974e333ccd5f	@DISEASE$ is a rare benign slowly growing @PHENOTYPICFEATURE$ which usually appears as a well-defined lobulated entirely intraventricular mass, in the fourth or lateral ventricles.	false
+9606acb29b3a23d3cf21919346eb4ef9d7004d07	@DISEASE$ is a benign lesion, slow-growing neoplasm, representing 0.2 to 0.7 % of intracranial @PHENOTYPICFEATURE$.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+4fcb1a3b6421f5975a85a705c98297f3e8f97092	During dietary treatment, plasma levels of phytanic acid decreased to normal, and the patient's development evaluation showed slow progressive acquisition of new competences.This case report highlights the relevance of considering a @DISEASE$ in any child with developmental delay who manifests hearing and @PHENOTYPICFEATURE$ and of performing a systematic biochemical investigation, when plasma VLCFA are mildly increased.	false
+261c944078d4af300e776c558302d9647dd9325d	In this chapter, we highlight the clinical and genetic features associated with the rare inherited forms of neurodegenerative diseases, including ataxias, @DISEASE$, @PHENOTYPICFEATURE$ paraplegias, Parkinson's disease, dementias, motor neuron diseases, and rare metabolic disorders.	false
+e41e437435b64660d1744f3059e501df319799a0	We characterized baroreflex function and responses to vasoactive drugs in patients with idiopathic orthostatic intolerance, patients with essential hypertension, patients with monogenic hypertension and @PHENOTYPICFEATURE$, patients with @DISEASE$, and control subjects.	false
+eeb8f08d6bb439473bae36c5e2cc47dd9e872a05	Previous reports have suggested that expansion of the CGG repeat located in the fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene might be responsible for a significant number of patients with the @DISEASE$ (MSA) phenotype.	false
+68c55a3223a590db7b1a0c22145350ba2e8ae223	[Analysis of fragile X @PHENOTYPICFEATURE$ 1 gene premutation in @DISEASE$ patients].	false
+717b6c80a24421b09d6dff73dbcd6575fe3ef559	We investigated clinicopathologically the pyramidal signs, including @PHENOTYPICFEATURE$, hyperreflexia, and Babinski's sign, and the involvement of the pyramidal tract and primary motor cortex, in seven Japanese autopsy cases of @DISEASE$ (MSA).	false
+5c099c1a1aff261794930cb65986611ff975dc5b	Increased total tau levels in ADD/MCI, @PHENOTYPICFEATURE$, and @DISEASE$, and increased P181tau in ADD/MCI indicated that these biomarkers corresponded to neurodegeneration and tauopathy, respectively.	false
+dcf9c215d6c5daaffdefe65e4bf6fd0195d632c9	To clarify the factors relating to the prognosis of spinocerebellar degenerations (SCD), we performed a follow-up study on the survival of patients with Friedreich disease, familial @PHENOTYPICFEATURE$ paraparasis, sporadic olivopontocerebellar atrophy (OPCA), hereditary OPCA of Menzel type, sporadic late cortical cerebellar atrophy (LCCA), cerebellar atrophy of Holmes type, @DISEASE$, striatonigral degeneration, dentatorubropallidoluysian atrophy, or Joseph disease.	false
+2429bc88ec4757069ab51920ef76120f06e5c96a	His major symptoms were chronic and progressive gait disorder, weakness in his lower extremities and @PHENOTYPICFEATURE$, as well as autonomic failure and cerebellar ataxia suggesting possible @DISEASE$ (MSA).	false
+989379e7ef37b7e0791613f3f049577cca8c4040	Two groups of patients were studied: 22 patients without neurological disease considered as normal subjects; and 25 patients with neurological disease (three multiple sclerosis, six @PHENOTYPICFEATURE$, nine conus medullaris syndrome, three peripheral neuropathies, two lumbosacral lesions, one @DISEASE$, and one syringomyelia).	false
+49ffdec33e4e1c9b092c979db44f6ba09a146339	To investigate whether Chinese @DISEASE$ (MSA) patients have premutation of fragile X @PHENOTYPICFEATURE$ 1 gene(FMR1).	false
+e3898e7039f72c913dcab3a275803c371ca7ed5d	Moreover, the tumors may exhibit characteristic features, such as rapid tumor growth, hypopituitarism, or @PHENOTYPICFEATURE$, and these findings may represent helpful signs for the diagnosis of primary sellar @DISEASE$.	false
+909c83acc12a8d58ce8577e0c8b9dceca9909a4a	Bilateral @DISEASE$ in situ associated with @PHENOTYPICFEATURE$.	false
+32efa4c1e8fd63b4b9e561dd8b2a5a0b238a9d6f	Langerhans cell histiocytosis, cutaneous forms of cancer (such as leukemia cutis, @DISEASE$, and rhabdomyosarcoma), developmental abnormalities such as neural tube or @PHENOTYPICFEATURE$, and aplasia cutis congenita, nutritional deficiency, and immunodeficiency all have a range of cutaneous findings that will be reviewed herein to guide diagnosis and management.	false
+c356b8820dfaf334b1dcffe12019ff7c04850a3c	@DISEASE$, diaphragmatic hernia, @PHENOTYPICFEATURE$, broncho-pulmonary abnormalities, and congenital heart defects are conditions associated with partial trisomy of larger fragments of 2p.	false
+1fcb644f56255851ed1fcd8a492cc4c02b636327	Clinical applications of bioethical considerations are given to the patients with following diseases: spina bifida cystica and other @PHENOTYPICFEATURE$, congenital metabolic disorders such as cretinism and phenylketonuria, malignant tumors such as @DISEASE$ and retinoblastoma, and intractable epilepsy.	false
+9b5acc8aadd5875224852334ef5674c90d31f107	We describe a case of a solitary pelvic kidney coexisting with adrenal and pelvic @DISEASE$ in a child with multiple malformations, including @PHENOTYPICFEATURE$, hypertelorism, aortic coarctation and a bifid uterus.	false
+c61b61fb33d9c96e793bdda0cc37d527ac19c4dc	13-cis-retinoic acid-associated bone marrow @PHENOTYPICFEATURE$ in @DISEASE$.	false
+af8444d7d493c0586497da36cff04da2977527a0	We present an autopsy case of a two-day-old female infant with a very unusual combination of @DISEASE$ in situ in both adrenals and @PHENOTYPICFEATURE$.	false
+d47131066470b5cce7bf11b76e5b575cb27308af	Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, @PHENOTYPICFEATURE$, and with a stage 4 @DISEASE$ without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3),	false
+86f6503e6651db36bfb3ef9158d376b1ccc01de9	Neonatal @PHENOTYPICFEATURE$: cerebral primitive neuroectodermal tumor or @DISEASE$ as an infrequent cause--a case report and review of the literature.	false
+c4a4ab02fc1b205478f6489c8d875a196745b5bf	The definitive etiologies for central anemia were: congenital syphilis, neonatal @PHENOTYPICFEATURE$, type II congenital dyserythropoietic anemia (CDA), and @DISEASE$.	false
+ab5419541a539b5bd9d22c2541d5975a77184edf	Twenty-one cases (9%) were initially misclassified, including the following: 13 presenting with skin +/- peripheral blood involvement and misclassified as mycosis fungoides/@DISEASE$; 7 with lymphomatous disease, absence of @PHENOTYPICFEATURE$ involvement, and diffuse CD30 expression, misclassified as ALK- negative anaplastic large-cell lymphoma; 1 thought to represent T-prolymphocytic leukemia with TCL-1 gene rearrangement and diffuse marrow involvement.	false
+f37566a77144d6860ebdb03c41107de20c797109	We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (@DISEASE$) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and @PHENOTYPICFEATURE$, severe intellectual disability speech delay, microcephaly, and growth retardation.	false
+300b4580671355a2c18fc1fcf0cc3e98c2725d53	We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (@DISEASE$) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe @PHENOTYPICFEATURE$ speech delay, microcephaly, and growth retardation.	false
+c3185fbddf8fda1c8799f0bf7e6ed835cda7d6ee	Our findings expand the clinical spectrum associated with @DISEASE$ complex deficiency and the study illustrates the importance of MRI and WES in the diagnosis of patients with CP and @PHENOTYPICFEATURE$.	false
+71b935759ec57ee9cdab7cf6550518573a6f99db	@DISEASE$ deficiency causes severe @PHENOTYPICFEATURE$ and progressive spastic para- or tetraplegia, supporting an important role for AP-4 in brain function and development.	false
+10a1ed6b1a7d93f4d8d3677b11830078348a67ac	Hereditary @DISEASE$, olivopontocerebellar degeneration, @PHENOTYPICFEATURE$, and hypogonadism.	false
+cfd03d738a3f83e62de048e511b93394c848ec44	There were no associated anomalies, such as @DISEASE$, cleft lip/palate, @PHENOTYPICFEATURE$, malformations of the long bones or internal organs, and overt mental retardation.	false
+376cfe5774213fabc3b0b43ec177116142c2e367	@PHENOTYPICFEATURE$ is the most common in reticular dysgenesis, in autoimmune polyendocrinopathy candidiasis @DISEASE$ and in DNA repair disorders.	false
+567a25b002f5645df15b4100eec79500e0715e78	Syndrome of @PHENOTYPICFEATURE$, mental deficiency, microcephaly, @DISEASE$, and multiple skeletal anomalies.	false
+b028836bd6aa3a807313f98a972aa9293529b364	The father and two other sisters of the patient had normal facial features, but had @PHENOTYPICFEATURE$ and had dental anomalies, the latter suggestive of @DISEASE$.	false
+fe8aeeda365178f81761edd4b2d02a02d0137fa0	We propose that the most consistent and reliable features of CHH are @PHENOTYPICFEATURE$ of prenatal onset and @DISEASE$, and suggest that the diagnosis of CHH be considered and mutation analysis pursued even when typical radiographic findings are absent.	false
+37d4c8ec65dc06855f6ecac9fa5b2bbbc204bbea	Hereditary @DISEASE$ of the anhidrotic type associated with @PHENOTYPICFEATURE$.	false
+53c56327c6c0fba3de0ed3e8bc5ee07145b261a9	She had @PHENOTYPICFEATURE$, @DISEASE$, epiphora, cleft lip, cleft palate, and normal development.	false
+12b8a8501ef3337bbb87047ec8a5faf58753998f	Margarita Island @DISEASE$ (ED4) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate.	false
+8fb0e74a9e31ab4f0e18edd3b079dc687a361cf2	The characteristic clinical features of the 19q13.1 microdeletion syndrome include @PHENOTYPICFEATURE$, signs of @DISEASE$, growth retardation, neurologic features and genitourinary anomalies.	false
+fe9c3ef55c8e7349a18091ad304f2a152a0c502e	The effect of the analog on transit time suggests a potentially beneficial effect in patients with large-volume diarrhea in which no @PHENOTYPICFEATURE$ or circulating secretagogue can be identified, such as in pseudopancreatic @DISEASE$ syndrome.	false
+736f2408e03832d443ad7937a5db4625470e0596	@PHENOTYPICFEATURE$ characteristics proposed to be associated with @DISEASE$ include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor alpha (TGFalpha), and GRM1A, which encodes the type 1 metabotropic glutamate receptor alpha isoform.	false
+213b97188df8b03b909fe4e0f2a8254688e431b0	We provisionally propose to split @DISEASE$ in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe @PHENOTYPICFEATURE$.	false
+71088bba0c222fc4b31c02061a84bd323997420b	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+d90b15f6cbef7e9c62169a89c6539239f37c5015	@DISEASE$ (MWS) is a rare @PHENOTYPICFEATURE$-multiple congenital anomalies syndrome associated with typical facial dysmorphism.	false
+acd2294f797b0a0293691bba40dfc6a907afe639	@DISEASE$ (MWS) is a developmental disorder presenting with @PHENOTYPICFEATURE$, delayed motor development, and a wide spectrum of clinical features.	false
+180d70d3a11cf94d6e2d15ade94a31a1706b4f23	In the AGB of RS with @PHENOTYPICFEATURE$ suspected of having @DISEASE$, the density of intramuscular innervation was comparatively higher.	false
+8128de57aea379e8d72b38fed084d8f265ad2dba	@DISEASE$ (MWS) is characterized by severe @PHENOTYPICFEATURE$, absent or impaired speech and microcephaly, with a gradual post-natal onset.	false
+e6664c5a67860d32c6afba88ac8b903daf5e644e	We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, @PHENOTYPICFEATURE$ and variable MCAs which we propose be called the "@DISEASE$."	false
+bda915ba39a7b2eecde175bfc05f985d45029fb6	@DISEASE$ (MWS) is a relatively newly described multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome.	false
+eb438194d52e84dd51e805eae801e2d5f155158f	@DISEASE$ is a multiple congenital anomaly and @PHENOTYPICFEATURE$ syndrome characterized by a unique face and various other structural and functional anomalies.	false
+bf8b9b02d86e432c296afa158b6ed5d1c871d91d	@DISEASE$ (OMIM 235730) is a genetic condition characterized by moderate-to-severe @PHENOTYPICFEATURE$, a recognizable facial phenotype, and multiple congenital anomalies.	false
+4f35129e9f0d01c9e24764c6bfec83bb2b714d6a	@DISEASE$ (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe @PHENOTYPICFEATURE$, developmental delay and multiple congenital anomalies.	false
+a0389db5e662fc47de2e8bff628180f86b546429	@DISEASE$ (MWS) is a rare @PHENOTYPICFEATURE$/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene.	false
+7b1318562eb9a6908563b92c54e475e7300f5e38	@PHENOTYPICFEATURE$, calcification, or pathologic contrast enhancement has not been observed in @DISEASE$ to date.	false
+ab8ae928c2694d8298ea8d369e851a96df02f289	Here we show that reduction of brain tissue @DISEASE$ is an effective means of reducing brain tissue swelling and @PHENOTYPICFEATURE$ in rat and porcine cortical brain tissue in vitro.	false
+4aca54016f544189f5d66ed742d0f73ded6dce4b	In this experiment, pancreatic @DISEASE$ was underestimated due to pancreatic @PHENOTYPICFEATURE$.	false
+c46d0c4862bdfdb1fa9171aa1077748df86db1f3	A computer-assisted analysis system allowed measurement of the functional capillary density (@DISEASE$), vessel diameters, velocity of blood flow, and @PHENOTYPICFEATURE$ value expressed as extravasation index (EV).	false
+11925d651ec5a2ed6c234735fff3f81f516eccf6	We determined an optimal @DISEASE$ cut-off for combination with HC to detect all cases found with @PHENOTYPICFEATURE$ at birth (micB), while excluding the fetuses with normal head circumference at birth (NHCB), who were described postnatally as having an acrocephalic-like cranial deformation.	false
+76879f17ea3a8b020e8746d8433fe80b0a52ec1b	The eyes were classified into four stages; stage 0, without guttae; 1, guttata cornea without @PHENOTYPICFEATURE$; 2, mild Fuchs' corneal dystrophy (@DISEASE$); and 3, severe FCD, according to clinical records, and patient age and corneal endothelial cell density (ECD) were plotted.	false
+162bc99ea92e327d0084643c131669241d149613	The eyes were classified into four stages; stage 0, without guttae; 1, guttata cornea without @PHENOTYPICFEATURE$; 2, mild Fuchs' corneal dystrophy (FCD); and 3, severe @DISEASE$, according to clinical records, and patient age and corneal endothelial cell density (ECD) were plotted.	false
+10c95ddc985540b5c542824812893d6317406118	Except the cerulein-induced pancreatitis groups, other groups were found to have reduced pancreatic functional capillary density (FCD); when pancreatic @PHENOTYPICFEATURE$ was taken into consideration and calibrated @DISEASE$ was introduced (FCD weighted against pancreatic wet/dry ratio), all groups revealed increases in pancreatic functional capillaries when compared with normal control.	false
+3862126b7ea7bd84a45aa32cdec5f54fd077bb2c	Except the cerulein-induced pancreatitis groups, other groups were found to have reduced pancreatic functional capillary density (@DISEASE$); when pancreatic @PHENOTYPICFEATURE$ was taken into consideration and calibrated FCD was introduced (FCD weighted against pancreatic wet/dry ratio), all groups revealed increases in pancreatic functional capillaries when compared with normal control.	false
+2ba5fd51ae4a328f130c67e8e256b7cf2b3ce701	In this review we present the results of our recent studies aimed at improvement of accurate prenatal detection of microcephaly including: (1), application of two new reference ranges for fetal HC in cases with a prenatal diagnosis of @PHENOTYPICFEATURE$ based on the conventional reference; (2) assessment whether integration of additional parameters (stricter fetal HC cut-offs, small-for-gestational age (SGA), decreased HC/abdominal circumference and HC/femur length ratios, presence of associated malformations and family history) can improve prediction; (3), estimation of the difference between Z-scores of prenatal HC and the corresponding occipitofrontal circumference (OFC) at birth in order to propose an adjustment for better prediction of the actual OFC deviation at birth; (4), assessment whether micB diagnosis can be improved by accurate detection of false positive Fmic cases whose small HC is due to an acrocephalic-like head deformation by applying a new reference range of a vertical measurement of the fetal head: foramen magnum-to-cranium distance (@DISEASE$).	false
+caf11b9c1b772c46caca4216ce33c32c8e83042c	In both experiments the pancreatic erythrocyte velocity (EV), functional capillary density (@DISEASE$), leukocyte adherence (LA), histology and @PHENOTYPICFEATURE$ index were measured.	false
+7f9d23dff141b6ac3071aa5fa914e595380afed3	The ECO(2.0) cutoff line differentiated eyes with @DISEASE$ from those without @PHENOTYPICFEATURE$ with a sensitivity and specificity of >90%.	false
+1190e7c0bf732714df65310e205c1458b0b5d58f	An NVC of the cochleovestibular nerve might cause @PHENOTYPICFEATURE$ and/or vertigo; however, general acceptance of @DISEASE$ for this indication is lacking.	false
+def9a365c211e590c3bb9820ce7df201348eab54	@DISEASE$ for @PHENOTYPICFEATURE$ has lower success rate.	false
+137997ea3f919c7fc0f2ee9edff35fef1d038e2e	Postoperative complications in the @DISEASE$ group: 2 patients had short-term @PHENOTYPICFEATURE$ and drinking cough, 1 case had cerebrospinal fluid leakage, 1 case had intracranial infection, and 1 case had ipsilateral hearing loss, with no deaths.	false
+7a86b5d8b8d0b962ce50a30f45da3182b5a649bc	Cardiac disease, especially @DISEASE$ and LVOTO, was common in Bull Terriers in this study, and those with BTPKD had an increased risk of @PHENOTYPICFEATURE$.	false
+f86d400cd722bac02b52e2b6cff94549ad3c1bb9	The immediate effect of @DISEASE$ was observed in 22 patients with @PHENOTYPICFEATURE$ and 10 patients with vertigo.	false
+56d237cb16ac08d1acf0e413e0a1b5ec4b7e4f25	MVD is also an effective treatment for glossopharyngeal neuralgia (GPN), and recently @DISEASE$ has been shown to be an effective treatment for particular types of vertigo (disabling positional vertigo, DPV) and certain types of @PHENOTYPICFEATURE$.	false
+bddbca3ac6fab6876a603f3beac5a58b54c2c96a	@DISEASE$ is also an effective treatment for glossopharyngeal neuralgia (GPN), and recently MVD has been shown to be an effective treatment for particular types of vertigo (disabling positional vertigo, DPV) and certain types of @PHENOTYPICFEATURE$.	false
+2c982801b034fead5374a249f7eafa45c6b8319d	The follow-up data for the effect of @DISEASE$ showed complete resolution of @PHENOTYPICFEATURE$ in 14 patients and vertigo in 6 patients.	false
+22b08f52a19a98cc81b52879ad51ce26db94eead	In 28% of patients with @PHENOTYPICFEATURE$ and 32% of patients with vertigo, complete relief following @DISEASE$ was reported.	false
+bf50a098dd813d214a8f15ce190e85e8eab3688e	The infrafloccular approach in microvascular decompression (@DISEASE$) for hemifacial spasm (HFS) reduces the risk of postoperative @PHENOTYPICFEATURE$.	false
+214e54acfc82741eaaf9009f53560f0973b77243	The aim of this study was to focus on the potential association between @DISEASE$ and @PHENOTYPICFEATURE$ as a surgery-related complication.	false
+688a9b19e23b02236d352ec20738a0c7aa882820	@DISEASE$: @PHENOTYPICFEATURE$ may be induced by oxcarbazepine.	false
+fa630ed0321802d67b690a5d6d68437f30df2ba5	Our patient who met the diagnostic criteria for @DISEASE$ presented with @PHENOTYPICFEATURE$ that may have been induced by OXC.	false
+017e2b93ec4f3f878ec45009bf2fc45e1581e71b	The most common PNS are Lambert-Eaton myasthenic syndrome (LEMS), subacute @PHENOTYPICFEATURE$, limbic encephalitis (LE), opsoclonus-myoclonus (OM), retinopathies (cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR), Stiff-Person syndrome (SPS), chronic gastrointestinal pseudoobstruction (CGP), sensory neuronopathy (SSN), encephalomyelitis (EM) and @DISEASE$.	false
+1be4ee8d8d06d6cc57b2761fac82ce8b349ee62d	Diabetic nephropathy (DN) is one of the most significant long-term complications of diabetes mellitus (@DISEASE$), and it is a primary risk factor for @PHENOTYPICFEATURE$.	false
+54f1e65344fdc1ad385b28022e3484fd1fa9b174	Compared to HCs, patients with PM/@DISEASE$ more frequently had @PHENOTYPICFEATURE$ (LVDD) (12% versus 0%; P?=?0.02) and longer QRS and QT intervals (P?=?0.007 and P < 0.0001, respectively).	false
+81b73b187220cee6c6fc1445b8bc755a765958a7	Diabetic nephropathy (DN) represents one of the main causes of @PHENOTYPICFEATURE$ in type 2 diabetes mellitus (@DISEASE$) patients.	false
+cb9182162f8dd7640d55680ce40441047823e755	@DISEASE$, @PHENOTYPICFEATURE$, and inappropriate use of secondary references.	false
+ddd0d5e368cd099ea6a49c1d863978185277006d	Marked @DISEASE$ and progressive @PHENOTYPICFEATURE$ were found by computed tomography of the brain.	false
+10b51f218fe9642ff1237215e6e09fb1acf6d916	@DISEASE$ may be associated with posterior fossa cystic malformations, @PHENOTYPICFEATURE$, and a demyelinating neuropathy.	false
+e197f6e2801f5243caeeff50262c538974512739	Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, @PHENOTYPICFEATURE$, renal anomaly, seizure disorder and global developmental delay due to @DISEASE$.	false
+a7a94c43a30d5a20096e765ac76cf01f3e0b1c87	RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of @PHENOTYPICFEATURE$ even in the absence of @DISEASE$ on imaging.	false
+52eecfc85feed12cdee1b5aeb12f3a6d5c200b16	@DISEASE$ patients with @PHENOTYPICFEATURE$ have more frequent abnormalities of oVEMPs to impulsive stimulation than do those without, consistent with more frequent abnormalities of the utricle.	false
+9c1701eba961ffbb47c788f4bdd799282f43fbe1	Intrahepatic extension of renal cell carcinoma @PHENOTYPICFEATURE$ thrombus causing @DISEASE$.	false
+57fc9e813304c64d0dc7484224cdc8c2008b9fc0	In two children the intracardiac @PHENOTYPICFEATURE$ extension was asymptomatic, while the other two had @DISEASE$.	false
+9ed80090569aa6bca853d8c5fd0bef3797667a00	One patient underwent successful regrafting for recurrent @DISEASE$; one patient died of @PHENOTYPICFEATURE$ recurrence.	false
+a83310d26d1ed0c3a6cc4feea5c328ecebef5f17	One patient died at 1 month from @PHENOTYPICFEATURE$-related @DISEASE$.	false
+e5748733fa036243b8d25669e37916a9d614f469	If this regimen fails, non-compliance, spontaneous bacterial peritonitis, hyponatremia or additional complications such as renal failure, @DISEASE$ or @PHENOTYPICFEATURE$ should be considered.	false
+11317d2c3ae85a9e156ae1005bd5df480fb9b002	If this regimen fails, non-compliance, spontaneous bacterial peritonitis, hyponatremia or additional complications such as @PHENOTYPICFEATURE$, @DISEASE$ or tumor should be considered.	false
+638c830f666472e3435c00a6b884a4572824ee06	@DISEASE$ caused by a right atrial @PHENOTYPICFEATURE$.	false
+4442a61cab5af65675253b09632569ece5be11cd	@DISEASE$ and @PHENOTYPICFEATURE$ in Behcet disease.	false
+37cc8138efb5d0c7c0cc6411685ccdf9705d6653	[@DISEASE$ and splanchnic vein thrombosis: masked myeloproliferative @PHENOTYPICFEATURE$ and JAK2V617F].	false
+f8afcd1bfe5e93bd58c404a8efcd33cc6e546138	@DISEASE$ and @PHENOTYPICFEATURE$ in Behcet's disease.	false
+77ec85f535fe09af827985296746ef62b20cadcc	It behaves as malignant liver @PHENOTYPICFEATURE$ and rarely causes @DISEASE$ and variceal bleeding.	false
+06351bcbab57b126a038c6fae5ec4366e4f1effe	Essential @DISEASE$ @PHENOTYPICFEATURE$ and stone disease.	false
+889a138278a24178b452eb88a6bda5ef3ea1c1cf	The risk for erectile dysfunction is closely linked to cardiovascular morbidities such as coronary heart disease, @DISEASE$ @PHENOTYPICFEATURE$, hypercholesterolemia, and diabetes.	false
+68482133f43cbaa3e1735762084f95c421ccd938	The risk for erectile dysfunction is closely linked to cardiovascular morbidities such as coronary heart disease, @DISEASE$ hypertension, @PHENOTYPICFEATURE$, and diabetes.	false
+fc54b4c1975500c4ed704fe557030b50ea723e6d	@PHENOTYPICFEATURE$ and @DISEASE$ ventilation.	false
+71fe71f2b1bf1987671a069a19b5db16f77c0cb5	@DISEASE$ @PHENOTYPICFEATURE$ was produced by intravenous administration of synthetic TRH to ovariectomized sows.	false
+212d0d67d98104b59c79e8899f3efd02ebccf4be	[The neurohypophysis and neurogenic @DISEASE$ @PHENOTYPICFEATURE$].	false
+aa491413b49b48b448cfdc3673fc7fbe1c286f21	Risk factors contributing to the development of repeated MI were as follows: patients' age, concomitant polyvascular and multivessel disease, @DISEASE$ hypertension, @PHENOTYPICFEATURE$, excess weight and smoking, poor adherence to the recommendations of cardiologists and general physicians.	false
+50689c7bd7e5d9c0ef5223245506cfda5ead5fbf	Risk factors contributing to the development of repeated MI were as follows: patients' age, concomitant polyvascular and multivessel disease, @DISEASE$ @PHENOTYPICFEATURE$, hypercholesterolemia, excess weight and smoking, poor adherence to the recommendations of cardiologists and general physicians.	false
+a8bc65ecb33e11d2b3fbc7f1e17f610d642a77de	The prevalence of coronary heart disease, @DISEASE$ @PHENOTYPICFEATURE$, hypercholesterolemia, hypertriglyceridemia, hypo-alpha-cholesterolemia is shown to be similar in mental and manual workers.	false
+935b5c196df192ae9bd978d146e70a17c2e00d7f	The prevalence of coronary heart disease, @DISEASE$ hypertension, @PHENOTYPICFEATURE$, hypertriglyceridemia, hypo-alpha-cholesterolemia is shown to be similar in mental and manual workers.	false
+40db15c163a33b84917a21a18ba384f00c569cf0	Red wine elicits different metabolic, autonomic, and endothelial responses among individuals with @PHENOTYPICFEATURE$ or @DISEASE$ hypertension and healthy controls.	false
+0d123bd07f5d00b86ed50fa25feedac7eac1451a	Red wine elicits different metabolic, autonomic, and endothelial responses among individuals with hypercholesterolemia or @DISEASE$ @PHENOTYPICFEATURE$ and healthy controls.	false
+277fe5f2fee38557677d2a6573d63f9be898ffdc	This risk was of similar magnitude to that associated with diabetes and greater than that associated with @DISEASE$ @PHENOTYPICFEATURE$, hypercholesterolemia, and smoking.	false
+2ed44b705b619204d1c25f285575500ce7e1d834	This risk was of similar magnitude to that associated with diabetes and greater than that associated with @DISEASE$ hypertension, @PHENOTYPICFEATURE$, and smoking.	false
+8ac03a47b8632ecc437dea8cea062b9d75caf81c	[@DISEASE$ @PHENOTYPICFEATURE$ versus hypertensive heart disease].	false
+3796cb98f3dd61c8c56e9609e507dc78eb4c071a	@DISEASE$ (RCDP) is an autosomal recessive disease characterized clinically by a @PHENOTYPICFEATURE$ primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation.	false
+d1239f7a707edf354bf2633ccad68a62f0d5d6ad	Prior to @PHENOTYPICFEATURE$ surgery, 0.1mL to 0.2mL of AH was aspirated and analyzed for TAC and @DISEASE$ level using a colorimetric method.	false
+f2c3b9e094b030fcd1b223b5c4c471c2f8c7263f	In 1981, in Spain, the ingestion of an oil fraudulently sold as olive oil caused an outbreak of a previously unrecorded condition, later known as toxic oil syndrome (@DISEASE$), clinically characterized by intense incapacitating myalgias, marked peripheral @PHENOTYPICFEATURE$, and pulmonary infiltrates.	false
+9ea911f46c661de537dbab780f44ef159e369540	In reality, multiple factors can be entangled, with @DISEASE$ being one element within a multifactorial @PHENOTYPICFEATURE$ disorder; any musculotendinous pathology of the upper limb and any peripheral nerve entrapment require screening for potential concomitant TOS.	false
+66e70253ae92fff847153c992786f53e2b7c440d	@DISEASE$ is an extremely rare disorder at birth, that is, characterized by @PHENOTYPICFEATURE$ with short stature and midfacial hypoplasia, which has been reported to be caused by PDE4D and PRKAR1A gene mutations.	false
+a74af67537a059a8b93023b5acdd41f0ef22c06f	@DISEASE$ is a rare @PHENOTYPICFEATURE$, which has not been reported previously in patients of Chinese origin.	false
+77f4e437013b50b4f9e7dec95972b5a3e2311646	@DISEASE$ is a very rare congenital multisystem condition characterized by @PHENOTYPICFEATURE$ with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones.	false
+e555632ea332871c8e1f9ac5b55993e5223b5726	@DISEASE$ is a rare @PHENOTYPICFEATURE$ that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients.	false
+7f7db38970ede9b7151dfae931c47e32873348f6	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation.	false
+d2aeb09efcf8591e5a75a734bd2aa09353333d0f	In addition, two patients with prolonged @DISEASE$ and @PHENOTYPICFEATURE$ were shown by CT to have bronchiectasis as the likely explanation for the fever.	false
+6346b10cd962a1c5368759f23ffda0728054435d	Major cardiovascular complications included myocardial infarction, @DISEASE$, @PHENOTYPICFEATURE$ requiring treatment, and all-cause death.	false
+649cd1cc6818730309a2e619938cfbb2f4112a02	This may lead to the development of ascites, pleural effusions, pericardial effusion, anasarca, intravascular volume depletion, hemoconcentration, oliguria, @PHENOTYPICFEATURE$ and hypoproteinemia, electrolyte imbalances, acute renal failure, abdominal compartment syndrome, thromboembolic events, and @DISEASE$.	false
+fde4a466ea9ce375016808daaa91c97b315178eb	Methylxanthines are poised to escape the confines of their traditional role as these agents are applied in novel ways to surgical illnesses such as septic shock, the @DISEASE$, cancer @PHENOTYPICFEATURE$ and functional neutrophil disorders.	false
+10a374889464416955f09e0af5c37ccf74f32150	Most H5N1 patients present with @PHENOTYPICFEATURE$, cough and shortness of breath that progress rapidly to @DISEASE$.	false
+581429fad6860ffd6e7c2c78bfde932dfcd30a19	The signs and symptoms of the syndrome are hypoxemia, tachypnea, petechiae, @PHENOTYPICFEATURE$, altered sensorium, and chest roentgenograms similar to signs of the @DISEASE$ (ARDS).	false
+f024a81a52daace9940fae1d6c57d26f8986df3c	In the remaining 6015 patients, potential adverse outcomes analyzed included operative mortality, mediastinitis, stroke, renal failure, @DISEASE$, prolonged mechanical ventilation, sepsis, atrial arrhythmias, and @PHENOTYPICFEATURE$.	false
+181bc5b1cf73757848c6d62c58c28eb9f9a0b5f4	Three patients died as a result of adverse events believed to be possibly related to treatment: @PHENOTYPICFEATURE$, @DISEASE$, and pneumonitis.	false
+23fe1d426c0eae4249304b1017a565974fc8a8ff	After 3 hours, he developed paroxysmal supraventricular tachycardia, @PHENOTYPICFEATURE$, generalized tonic-clonic convulsions, disseminated intravascular coagulation, and @DISEASE$.	false
+ccb3d274d35d463f4323e392ea6a0697fd2f8c3e	@DISEASE$, 1.13 (1.0-1.2), and @PHENOTYPICFEATURE$, 1.05 (1.0-1.1).	false
+46a50c9abc3431b75c9ff5d636f3b9aa6284a7b9	not only allowed the identification of genes involved in the @DISEASE$ and in the vulnerability to bipolar disorders, but also the identification of genes implicated in tuberous sclerosis, in polycystic kidney disease, in @PHENOTYPICFEATURE$ with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of autism and mental retardation.	false
+667eb2f1acd7aa199764667afe3bacefc7823fb8	A case with various @PHENOTYPICFEATURE$, soft tissue masses and skin lesions diagnosed as @DISEASE$ is reported.	false
+9cb823d08f7760958536f7945120fa805ae26d0c	The study of the presented case and review of available literature show that there tends to be a highly characteristic pattern of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d16a396208c8c05f6e3f6e1686f78929f4e583d8	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, @DISEASE$, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+a8e82707b16ad799f0a62d083c5e9b1cda4277a6	Mosaic somatic variants have been lately described in several overgrowth disorders, such as @DISEASE$, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/@PHENOTYPICFEATURE$ and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-polydactyly-hydrocephalus syndrome.	false
+7383bb40495ea6e78343dc59789a0b60609dd903	We hypothesized that FHI, because of histologic overlap with mesenchymal overgrowth tumors seen in CLOVES (Congenital Lipomatous Overgrowth with Vascular, Epidermal, @PHENOTYPICFEATURE$) and @DISEASE$, may harbor mutations in signaling pathways associated with cellular proliferation.	false
+9d4aa46e5f808dff0eeae6e2d14aa7bc031a356f	In this article, which is part 2 of a two-part series, the authors review the most relevant clinical and sonographic features of arteriovenous, capillary, venous and lymphatic malformations as well as vascular malformations that are part of more complex conditions or associated with syndromes, including Parkes-Weber syndrome, phosphatase and tensin homologue (PTEN) hamartoma tumor syndromes, Klippel-Tr?naunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi and @PHENOTYPICFEATURE$) syndrome, fibro-adipose vascular anomaly and @DISEASE$.	false
+c310dfd68d1f6d5afe1999c9ad9f681cc55dcf75	The case of a 5-month-old male infant with 18p- mosaic, who has intractable @PHENOTYPICFEATURE$ and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the @DISEASE$, is reported.	false
+f08cabd0c2a17f12388df3bc3170ddd5048c7920	Based on these data, we propose a phenotype map for several clinical features of the @DISEASE$: Round face was tentatively mapped to the distal 1.6 Mb of 18p; post-natal growth retardation and @PHENOTYPICFEATURE$ to the distal 8 Mb and ptosis and short neck to the proximal half of 18p.	false
+bcaa1abf9d41fb76b5eae079c3d5a59724e9bcd7	These findings argue against an association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bdd7559bab142a1e1592542b371aa580771043d1	Clinical and electrophysiologic features of @DISEASE$: lack of evidence for an associated @PHENOTYPICFEATURE$.	false
+c46c8cf9bc023c31039caa2598652136b42c9046	@DISEASE$ may not be associated with a @PHENOTYPICFEATURE$, as has been previously suggested.	false
+12675595339391f799fe4067d46c5d61672a5a1f	To describe the clinical and electrophysiologic features of an unselected population of patients diagnosed clinically or genetically with oculopharyngeal muscular dystrophy (@DISEASE$), and to discern any association with a @PHENOTYPICFEATURE$.	false
+d2e1d43879105cf3059ceb75b3a618a8aafb4278	To describe the clinical and electrophysiologic features of an unselected population of patients diagnosed clinically or genetically with @DISEASE$ (OPMD), and to discern any association with a @PHENOTYPICFEATURE$.	false
+7506858c51539e6008bfdcf78e1e641c9c7f0ee2	We describe a case of an extremely rapid evolution of typical hypocalcemic cataracts in a patient with familial @DISEASE$ during acute idiopathic hepatic and @PHENOTYPICFEATURE$, while serum calcium and phosphorus were unbalanced.	false
+7c98f352e96a55447dafc822b102f8517233b1ac	A rapidly progressive cataract in a patient with @DISEASE$ and acute liver and @PHENOTYPICFEATURE$.	false
+dbc4b12a24df0d710af01a99b790619204878f63	We have studied a girl with fibrotic extrinsic eye muscles, @DISEASE$, @PHENOTYPICFEATURE$, mild hydrocephaly, and neurodevelopmental delay.	false
+90bad7eecfa5f4bfa84b749d9fc55d3b23799860	@DISEASE$ is prevalent in adults with @PHENOTYPICFEATURE$ (HF).	false
+ef66880688240d75057b15fde1d184f948c00ca5	Whether @DISEASE$ is associated with hsCRP and cardiac events in @PHENOTYPICFEATURE$ (HF) patients has not been examined.	false
+983994cdcebd5c9df5b9d62092375e240be64e4d	Maternal @DISEASE$ during pregnancy results in transient fetal and placental @PHENOTYPICFEATURE$ in guinea pigs.	false
+547dfbbd63831d71a19e4c093c90860518c60198	@PHENOTYPICFEATURE$ and rhythm disturbances with chest pain, hypotension, cardiac tamponade, and dyspnea are associated with @DISEASE$.	false
+be5c1f7c7e8aef0e5bc02d974b3c9cb67a4471b3	Microsymptoms of vitamin deficiency (mainly those of @DISEASE$) were detected in 64% of the examined subjects, excessive weight was found in 23-26% and @PHENOTYPICFEATURE$ in 11-16% of the women.	false
+682240ec75d41f7954ad122ba9aa716b241be5e2	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (@DISEASE$), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	false
+1e710a14deb4fa63777362fd0d84e50dfd4b571a	While biallelic mutations in the PALB2 @PHENOTYPICFEATURE$ suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and @DISEASE$.	false
+83d8255848174a04079b507977b49302e668be67	The p16 gene is frequently mutated in a variety of somatic @PHENOTYPICFEATURE$, as well as in familial melanoma and @DISEASE$.	false
+fd368dd13a74ba4dc3712bc6286988ec33037a74	Multiple small "imaging" branch-duct type intraductal papillary mucinous neoplasms (IPMNs) in @DISEASE$: indicator for concomitant high grade pancreatic intraepithelial @PHENOTYPICFEATURE$?	false
+d2f6434dff2a099e23099b343617b1067945ed14	In @DISEASE$, however, patients with Arg462Gln variants had more aggressive @PHENOTYPICFEATURE$ with more high grade cancers (OR = 15.40,	false
+2375079a35374f6f0b46d72f699c7af8e32ad142	@DISEASE$ (FPC) is a rare @PHENOTYPICFEATURE$ syndrome and its underlying major gene defect is still unknown.	false
+7a81a3dffd307a7410e1bdd5877d5e83b36654bb	Further, the current Johns Hopkins methodology used to screen for early pancreatic @PHENOTYPICFEATURE$ in @DISEASE$ patients and in patients with familial Peutz-Jeghers syndrome is discussed.	false
+4ca122d20733f0f1d5e2c873bd5630d316053b06	The obvious cost constraints of screening populations at risk but with a low @PHENOTYPICFEATURE$ yield will restrict screening protocols to only the highest risk groups (hereditary pancreatitis = age 50, certain @DISEASE$ kindreds).	false
+31bd98aa82c72ea1d3d1c03a8edba59dd9cd7b0f	Meanwhile, @DISEASE$ is an established hereditary @PHENOTYPICFEATURE$ entity that is responsible for approximately 3% of pancreatic cancer (PC) cases.	false
+31deab22e2bb302ee9846688275570d231d13eda	With this knowledge has evolved a better understanding of several high-risk clinical syndromes associated with pancreatic cancer, @DISEASE$, and the evolution of strategies to screen high-risk families for early pancreatic @PHENOTYPICFEATURE$.	false
+bc4e4b0d3a06c926f22d21ff4136bfd1217c9eae	To determine the genetic basis of susceptibility in these families, we sequenced the germline genomes of 638 patients with @DISEASE$ and the @PHENOTYPICFEATURE$ exomes of 39 familial pancreatic adenocarcinomas.	false
+d0a47d82b4b0f4100fbec786f04c00214b93a3b1	Mutation in DNA repair genes may results in rare genetic disorders, including Xeroderma pigmentosum, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, @PHENOTYPICFEATURE$ teleangiectasia, @DISEASE$, Bloom syndrome, Rothmund-Thomson syndrome.	false
+3c29089a64ab2e8310dd009b72f38a16be358f79	A comparative evaluation is reported of pro-oxidant states in 82 patients with @PHENOTYPICFEATURE$ telangectasia (AT), Bloom syndrome (BS), Down syndrome (DS), Fanconi anemia (FA), @DISEASE$ (WS), and xeroderma pigmentosum (XP) vs 98 control donors.	false
+e7363568e318774ba0c7564b6d9c1cadbb2879f2	Similar modification of dRp did not occur with extracts of cells of normal origin, nor those representing Fanconi's anaemia, xeroderma pigmentosum, Bloom's syndrome, @DISEASE$ or Friedreich's @PHENOTYPICFEATURE$.	false
+a5dd9d0c8a0b6d5efd9ab1ff18a1ff52dd470e8d	Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, @DISEASE$, Rothmund-Thomson syndrome, Cockayne syndrome, @PHENOTYPICFEATURE$ teleangiectasia, and Down syndrome) illustrate that among the most important biological processes involved in skin aging are alterations in DNA repair and stability, mitochondrial function, cell cycle and apoptosis, ubiquitin-induced proteolysis, and cellular metabolism.	false
+ba8d888f2d4ad2308ef10b6ae98dc9c1d4bc6166	This review briefly presents such syndromes, including Alzheimer disease, ataxia-telangiectasia, Down syndrome/trisomy 21, Friedreich @PHENOTYPICFEATURE$, Huntington disease, several disorders of mitochondria, myotonic dystrophy, Parkinson disease, Prader-Willi syndrome, @DISEASE$, Wolfram syndrome, mitochondrial disorders affecting oxidative phosphorylation, and vitamin B(1) deficiency/inherited thiamine-responsive megaloblastic anemia syndrome as well as their respective relationship to malignancies, cancer, and aging and the nature of their inheritance (including triplet repeat expansions), genetic loci, and corresponding functional biochemistry.	false
+840fd1a2db3f75fb9ce2a3d6bb143cb188ec5b82	These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, @DISEASE$, and alpha-thalassemia @PHENOTYPICFEATURE$ on the X chromosome.	false
+5c5c2887a2177dee2e7be7d81ddd97f569dd0cce	Fibroblasts derived from patients with diseases affecting DNA repair processes, such as Xeroderma Pigmentosum (classical and variant), Fanconi's anemia, Bloom's syndrome, @PHENOTYPICFEATURE$ Telangiectasica, Progeria and @DISEASE$, were assayed for the three DNA polymerases.	false
+6d4f59b7771410a83dade33901136189e529e427	The primary liver disease was hepatocellular carcinoma second to viral hepatitis in 15 patients, Wilson disease in 7 patients, cryptogenic cirrhosis in 3, @DISEASE$ in 3 patients, and 1 each patients of Byler disease, Caroli disease, tyrosinemia, Budd-Chiari syndrome, congenital hepatic fibrosis, alcoholic cirrhosis, and @PHENOTYPICFEATURE$.	false
+4974eeb2b4551f271396229dcef2e0400c94dcdd	@DISEASE$ is a rare, autosomal-recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, characteristic facial features, and in some cases severe renal phosphate wasting.	false
+e750503746928894af46b8db83ffe3f973d9da91	@DISEASE$ is an autosomal recessive skeletal disorder characterized by @PHENOTYPICFEATURE$, micromelia, platyspondyly and retarded bone maturation.	false
+719afb5742e870d5ac73b500b388d84d260ab33e	Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of @DISEASE$, which is characterized by short stature, short extremities, and @PHENOTYPICFEATURE$.	false
+72f0b9fad5b0c280d58bc27d7e8d5ada4106f9b3	Weill-Marchesani syndrome (WMS), @DISEASE$ (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and @PHENOTYPICFEATURE$.	false
+5bbd6e0114ead2f1287e37cddefbfcde13b542ae	This retrospective study identified cases with @DISEASE$ based upon abnormal radiographic and chondro-osseous morphological and clinical findings, as available, from the International @PHENOTYPICFEATURE$ Registry between 1987 and 2009.	false
+89405f176fcc49f6398e7dc5a7dbad3712db0323	Both children presented neurological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, @PHENOTYPICFEATURE$, @DISEASE$, and progressive cerebral cortical atrophy.	false
+a643411c4118a9d96c15caa18fdbb63f5ede530e	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive @PHENOTYPICFEATURE$ ataxia and lethal congenital @DISEASE$.	false
+3d3cff2f1cb3b0e92c96febc6af73f220ec87587	We were able to describe multifocal intussusceptive neoangiogenesis and vascular sprouting as the three-dimensional correlate of progressive @DISEASE$, a process dividing pre-existing vessels by intravascular pillar formation previously only known from embryogenesis and @PHENOTYPICFEATURE$ neoangiogenesis.	false
+90e8ac56e0b7a28eb4a4d698746b8107fa601935	An original article describes a sibship with early fatal @DISEASE$ of a yet unclassified type, with the accompanying features of polyhydramnios and neonatal @PHENOTYPICFEATURE$.	false
+024905f56397009653271288f71ee274362df60e	Finally VACTERL and non VACTERL association was considered in our patient in view of ventricular septal defect, tracheo esophageal fistula, anal atresia, @PHENOTYPICFEATURE$, seizure disorder and global developmental delay due to @DISEASE$.	false
+0292b2d51c84e0e79609eafb6d7efcbaf6c120d0	Mutations of the genes encoding several subunits of the voltage-gated Na+-channel and GABA(A) receptor, a ligand-gated ion channel, were also identified as underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with febrile seizures plus or generalized epilepsy with @PHENOTYPICFEATURE$ plus, @DISEASE$ and autosomal dominant juvenile myoclonic epilepsy.	false
+8170e7f83cbcaf89d614931883c72eaa2e7763ec	Mutations of the genes encoding several subunits of the voltage-gated Na+-channel and GABA(A) receptor, a ligand-gated ion channel, were also identified as underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with @PHENOTYPICFEATURE$ plus or generalized epilepsy with febrile seizures plus, @DISEASE$ and autosomal dominant juvenile myoclonic epilepsy.	false
+bbc92f0a9d12943cd971870a80063b7560280724	Mutations in SCN2A, the gene encoding ?2 subunit of the neuronal sodium channel, are associated with a variety of epilepsies: @DISEASE$ (BFNIS); genetic epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+); Dravet syndrome (DS); and some intractable childhood epilepsies.	false
+bce70f337b878b66672fec704a5070a341889e7a	Mutations of the genes encoding several subunits of the voltage-gated Na(+)-channel and gamma-aminobutyric acid (GABA)(A) receptor also were identified as the underlying causes of various epilepsy syndromes, such as autosomal dominant epilepsy with @PHENOTYPICFEATURE$ plus, @DISEASE$, and autosomal dominant juvenile myoclonic epilepsy.	false
+90ab89d591a7ad1097a740c6c6dfe072f0c562ea	Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with @DISEASE$, generalized epilepsy @PHENOTYPICFEATURE$ plus, and an early-onset infantile epileptic encephalopathy.	false
+2ea8e644d93c725ada05775b502a401fd54c46df	Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with @DISEASE$, @PHENOTYPICFEATURE$ plus, and intractable epilepsy of infancy.	false
+7e7ddee5e509ddd71689144f744d879183c88814	Voltage-gated Na+ channels are essential for action potentials, and their mutations are the substrate for generalised epilepsy with @PHENOTYPICFEATURE$ plus and @DISEASE$; Na+ channel inhibition is the primary mechanism of carbamazepine, phenytoin and lamotrigine, and is a probable mechanism for many other classic and novel AEDs.	false
+966fd2d742dc69ea5c038cf544e63fc32084630c	In addition to those included in the classification of the International League Against Epilepsy, new epilepsy syndromes comprise @PHENOTYPICFEATURE$ plus, @DISEASE$ (BFNIS), benign infantile focal epilepsy with midline spikes and waves during sleep (BFIS), malignant migrating partial seizures in infancy, devastating epilepsy in school age children and late onset cryptogenic spasms.	false
+e92a28547cc500b2873064b68794338283969865	We report @DISEASE$ in a previously-healthy 34-year-old Filipino man, who presented with third and sixth cranial nerve palsies, headache, vomiting and left @PHENOTYPICFEATURE$.	false
+c685414571984d8405ed83e7320dd1d34ee9efff	Frontotemporal lobar degeneration (FTLD) often overlaps clinically with @DISEASE$ (CBS) and progressive supranuclear palsy (PSP), both of which have prominent @PHENOTYPICFEATURE$.	false
+b5503f973b08d45c3dcebc31ce0f6abb2ec70bc3	Her brother had been diagnosed with @DISEASE$ (CBS) with right-hand limb-kinetic apraxia, aphasia, and a similar pattern of @PHENOTYPICFEATURE$.	false
+8c578d8b56e5b1791034ce6308989930639c2890	Recently, several attempts have been made to characterize clinical symptoms and @PHENOTYPICFEATURE$ patterns in pathology-proven corticobasal degeneration (CBD) and @DISEASE$ (CBS).	false
+dc380a7f0c1f1fbb81d418561f5cfcc697423363	Recently, several attempts have been made to characterize the clinical symptoms and @PHENOTYPICFEATURE$ patterns in pathology-proven corticobasal degeneration (CBD) and @DISEASE$ (CBS) with known histopathology.	false
+24825cbeb23eb8e6b19484fc8a8e66cd5fb53874	Despite the overlap with frontotemporal dementia and the observed regions of @PHENOTYPICFEATURE$, emotion processing has not been systematically explored in @DISEASE$.	false
+744d0cc3d7d44810d162b650de1bc603a507b4e6	To characterize cognitive and behavioral features, physical findings, and @PHENOTYPICFEATURE$ patterns in pathology-proven corticobasal degeneration (CBD) and @DISEASE$ (CBS) with known histopathology.	false
+cfc4d81adecd4bb7f0e07f0fa6f1814a591709b7	@DISEASE$, a rare primary lung malignancy, is considered to be distinct from other @PHENOTYPICFEATURE$ based on pathological features, clinical course, and prognosis.	false
+1141b286d27cc72479fe070e95994610932e3577	@DISEASE$ is a rare @PHENOTYPICFEATURE$ of uncertain histogenesis.	false
+6b6f0a151b95ab568a166df7e856e1a95522ae45	@DISEASE$ is a rare @PHENOTYPICFEATURE$ similar to fetal lung tissues.	false
+3e1a30405074856fbc52f766d5ae918174498cd8	@DISEASE$ is a rare primary @PHENOTYPICFEATURE$ with poor prognosis that commonly presents at a younger age than the non-small cell lung cancer.	false
+5067a0738d12ac0194363e1ebc147846023e25ed	@DISEASE$, a rare primary lung neoplasm occurring in both children and adults, is histologically distinct from other @PHENOTYPICFEATURE$.	false
+c39370ff81a51c92879385554b22aecdd16f723d	@DISEASE$ is a rare primary lung neoplasm, occurring in both children and adults, which is pathologically, clinically, and prognostically distinct from other @PHENOTYPICFEATURE$.	false
+dcab3cd4084cfa2893b32974b78fe3faa68c5d01	@DISEASE$ is a rare primary @PHENOTYPICFEATURE$ with poor prognosis that commonly presents at a younger age than the non-small cell lung carcinoma (NSCLC).	false
+16a664b86512984e626ca3f42eb1691e6833b0ab	@DISEASE$: an ultrastructural study emphasizing intestinal differentiation in @PHENOTYPICFEATURE$.	false
+fdfdfd0969fff528580e698b0ced580566f11d26	@DISEASE$ is a rare @PHENOTYPICFEATURE$ composed of immature mesenchyme and/or epithelium that morphologically mimics embryonal pulmonary structure.	false
+6ef1ab1f31c3c9bf6cd1631697284071bde7e123	@DISEASE$ is a rare primary @PHENOTYPICFEATURE$ with a poor prognosis, which commonly presents at a younger age than non-small-cell lung carcinoma.	false
+debf1e87257f0c57aa99bca6cef0c2b45679510e	[@PHENOTYPICFEATURE$ and tubular aggregates associated with @DISEASE$ and gyrate atrophy of the choroid and retina--report of two brothers].	false
+3d93df6f177263289971589f36356e40438767ee	[@PHENOTYPICFEATURE$ and tubular aggregates associated with hyperornithinemia and @DISEASE$ of the choroid and retina--report of two brothers].	false
+2ff57ca6b896acd576455065b2bdbd46799facc5	Dietary manipulation over a 5-month interval reduced the plasma ornithine levels 37% but did not halt the progression of the @DISEASE$ nor influence the cystoid @PHENOTYPICFEATURE$ or visual acuity.	false
+de2eb0c28bbaef39363f565af6109978ce81ef35	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to @PHENOTYPICFEATURE$, childhood hypotonia and facial dysmorphisms.	false
+49defc832495262d729bfa85b02811a47c6232fc	Thiamine deficiency secondary to anorexia nervosa: an uncommon cause of @PHENOTYPICFEATURE$ and @DISEASE$ in adolescence.	false
+e43ee7fb15c5fc0c8e842a5266db625651c5769a	One series from Brazil reported 4 patients (among 50 patients) with @DISEASE$; all presented with vomiting and concomitant @PHENOTYPICFEATURE$ at a median of 2.5 months (1.5 to 3 months) after bariatric surgery.	false
+9d9df913bf1a20225def054e0638bf5b782caa04	Clinical features mimicked those of various neurological disorders, especially multiple sclerosis, @DISEASE$, brainstem @PHENOTYPICFEATURE$, Fisher syndrome, disorders of amino acid metabolism and episodic ataxia.	false
+da8563494aeb9219b80def63014ea0b9b9d3b7b3	Nineteen patients with sudden onset of impaired recent memory, cerebellar ataxia, @PHENOTYPICFEATURE$, and other signs of @DISEASE$ (WKS) were treated and examined prospectively for 3 months.	false
+9cf0867ceb8b8728f522700eeb64de6e6ac599ff	Two patients with the clinic of @PHENOTYPICFEATURE$ and @DISEASE$ will be reported.	false
+765dee428404b50cb9556c716f739174b5be1311	This deficiency can cause congestive heart failure, @PHENOTYPICFEATURE$, Wernicke's encephalopathy, @DISEASE$ and gastrointestinal beriberi.	false
+4671cb450c777d51b992288a5324763342c8efd8	Clinical signs of nutritional deficiency were relatively uncommon but nine patients had @DISEASE$ and ten had @PHENOTYPICFEATURE$.	false
+faca2718dac5b87208f93965a198ce1969649d11	@DISEASE$ and @PHENOTYPICFEATURE$ are very uncommon in bariatric surgical practice.	false
+d0d8c27c90e9bdf4500530c4aae46f9676f1ef1e	Twenty-four per cent of the subjects showed three-or-more of the signs of the @DISEASE$ (ophthalmoplegia, nystagmus, ataxia, @PHENOTYPICFEATURE$ and global confusion).	false
+53d264e8b2cb9df7abc98d0c4c837eadb79e0fa3	Other patients may have retinal hemorrhages, optic disc edema, and @PHENOTYPICFEATURE$ without @DISEASE$.	false
+cf6bd79702c6d24c02e77e87bfd0d7f5c538cbb9	The etiology of @DISEASE$ hypertension and @PHENOTYPICFEATURE$, however, remains unclear.	false
+f5581ee4afcb0694951dfa4164c09f34e2bf617e	Cardinal features include hair @PHENOTYPICFEATURE$ dysmorphism, severe neurological impairment, hypothermia, @DISEASE$ anomalies, bone abnormalities and a fatal outcome.	false
+2fb22aca915a040276924d7c6e203fb3c7003447	The characteristic features, including neurological disturbances, @DISEASE$ degeneration and @PHENOTYPICFEATURE$, can be explained by the decrease in cuproenzyme activities.	false
+0f60390893cf597ac1e75642aefdf0db5feb6d03	[Cerebromeningeal @PHENOTYPICFEATURE$ caused by @DISEASE$ hypertension].	false
+801b309a53119e970a3c9f6a26a2ddf3d77d6be5	The clinical symptoms are caused by decreased activities of copper-dependent enzymes and include neurodegeneration, connective tissue disorders, @DISEASE$ changes and @PHENOTYPICFEATURE$.	false
+ce5f3ead26d50eacae572ed2146e6e1a1b8a799e	[@DISEASE$ @PHENOTYPICFEATURE$ with hemorrhage induced through strangulation and tapping].	false
+1103be0a8bfa6a6781396377ffbc8410f05bac98	D. Cyclosporine withdrawal might be considered in order to ameliorate nephrotoxicity, @DISEASE$ hypertension, lipid disorders and @PHENOTYPICFEATURE$.	false
+31032544901747159f1034dbe4847f82fa798f62	@DISEASE$ @PHENOTYPICFEATURE$ did not further contribute to this sensitization.	false
+eb6519e0737809030d183afff228b02a9c9d12a7	Patients with OSAS develop more frequently such disorders as arteriosclerosis, @PHENOTYPICFEATURE$ and @DISEASE$ hypertension.	false
+4945db46cbec04626e392fb7939417bc3abd1e4c	[Iontophoresis in @DISEASE$ circulatory disorders and post-traumatic @PHENOTYPICFEATURE$].	false
+34bb0d626cfc2333f251e6dfa4dea97980999a64	A 9-year-old female child who was a known case of @DISEASE$ was admitted to hospital because of @PHENOTYPICFEATURE$ and gastrointestinal symptoms.	false
+a2a36498fc7890397c35a4fe5afd8dc066ecdd0c	@DISEASE$ (FA) is characterised with multiple gene @PHENOTYPICFEATURE$, multiple types of genetic abnormalities, multiple organ involvements and multiple types of cancer risks.	false
+f61a54a597a2b55096d4abd7b970b2e670214877	Diabetes mellitus (DM) and other glucose @PHENOTYPICFEATURE$ are commonly observed in individuals with @DISEASE$ (FA).	false
+2662a26126f73629261b0e6fff687d8dfcaa20d5	We report here an Indian case with @DISEASE$ (FA) presented with @PHENOTYPICFEATURE$, pallor, short stature, hyperpigmentation and upper limb anomaly.	false
+30ee2c2d263e64c410004c7264c3ad168f930ee3	He had failure to thrive, and has microcephaly, slight @PHENOTYPICFEATURE$, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+3892910065ad6ff071f6384c4a4e790281d17851	In the present study, we downregulated FANCF expression by small interfering RNA (siRNA) in OVCAR ovarian cancer cells to address the effects of decreased FANCF expression on the function of the @DISEASE$ (FA)/@PHENOTYPICFEATURE$ susceptibility gene (BRCA) pathway.	false
+42db706d3135f7969e194842e72af7b8095d86a2	@DISEASE$ (PCH1b) is an autosomal recessive disorder that causes cerebellar hypoplasia and spinal @PHENOTYPICFEATURE$, leading to mortality in early childhood.	false
+25a9e8ac375d8da0ab700378a028a160007914ef	This retrospective study was performed on 34 eyes of 25 patients with severe complications of advanced @DISEASE$, including retinal detachment, @PHENOTYPICFEATURE$, shallow or flat anterior chamber, cataract, posterior pupillary adhesion, secondary glaucoma, vitreous hemorrhage, and preretinal hemorrhage.	false
+8a67bc76eb831817e52dccbeb8261acb92daac7e	In Group 1, @DISEASE$ was present in 7 eyes; retinopathy of prematurity was noted in 5 eyes; Marfan's syndrome was present in 3 eyes; mental and @PHENOTYPICFEATURE$ was present in 2 eyes.	false
+b6b2d4bb91cb0200330e54ca737c4e4d15facc2a	The latter involves potential applications to a whole host of diseases ranging from cancer to those that affect bones (osteoporosis), ears (hearing), eyes (macromolecular degeneration), the heart (@PHENOTYPICFEATURE$/cardiac arrest,), immune system (@DISEASE$), kidney (nephrotoxicity), lungs (cystic fibrosis), pancreas (diabetes and cystic fibrosis), skin (Darier disease), and stomach (ulcers).	false
+6587875ee6dc6646775ea0c8f153a855178122fe	The @DISEASE$ in a body with acute juvenile rheumatism and bilateral @PHENOTYPICFEATURE$.	false
+5cfcc097a9c49bf3872634fa99662ccc5974d940	Studies were analyzed and discussed as they pertained to the following categories of @DISEASE$ and sleep: (1) subjective measures of sleep dysfunction, (2) objective measures of @PHENOTYPICFEATURE$, and (3) outcomes on sleep quality following treatment of CRS.	false
+4222214b0fe383863175ad3befa9259eddaa366a	Studies were analyzed and discussed as they pertained to the following categories of CRS and sleep: (1) subjective measures of sleep dysfunction, (2) objective measures of @PHENOTYPICFEATURE$, and (3) outcomes on sleep quality following treatment of @DISEASE$.	false
+15b2457aa08cf7c64c47d4d4b2e021a72d09cf4b	Studies were analyzed and discussed as they pertained to the following categories of CRS and sleep: (1) subjective measures of @PHENOTYPICFEATURE$, (2) objective measures of sleep dysfunction, and (3) outcomes on sleep quality following treatment of @DISEASE$.	false
+67e3b465e11ed07e066a7191fe1aea9fbc5a931e	Studies were analyzed and discussed as they pertained to the following categories of @DISEASE$ and sleep: (1) subjective measures of @PHENOTYPICFEATURE$, (2) objective measures of sleep dysfunction, and (3) outcomes on sleep quality following treatment of CRS.	false
+51f2b88d41cafbb18d3f42285d9b090cdd90af4b	The etiology of @PHENOTYPICFEATURE$ in @DISEASE$ is most likely multifactorial.	false
+1deca4a6bec1d1d14dae9b0d4849cc9d04d93bf0	Depression, pain, and @PHENOTYPICFEATURE$ are interrelated in patients with @DISEASE$.	false
+f19bf8a29b259bb920d64c364f40968c21792eb2	To evaluate the risk of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c30f185fbc615c6e088c64dfc827abfca721691c	To evaluate sleep quality in patients with chronic rhinosinusitis (CRS) using a validated outcome measure and to compare measures of @DISEASE$ disease severity with @PHENOTYPICFEATURE$.	false
+27a6ee2661d23280a00ff820f7212081e5e2003b	To evaluate sleep quality in patients with chronic rhinosinusitis (@DISEASE$) using a validated outcome measure and to compare measures of CRS disease severity with @PHENOTYPICFEATURE$.	false
+1e2ddb97167d46feb23fbbe810f84dd154daa873	This study hypothesizes that @DISEASE$ may increase the risk of @PHENOTYPICFEATURE$.	false
+83b21cdb3b1776fd88b1c6dc9f6b75cfd58a5ef3	Non-serviceable hearing and @PHENOTYPICFEATURE$ were not significantly associated with @DISEASE$.	false
+75df201d999bcfe1d2c27e1b8a306959cb93a686	Further research is needed to investigate the complex relationship between depression, pain, and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+427a25145d3f11093e25ecc8efdd7f6705871395	Patients with @DISEASE$ have @PHENOTYPICFEATURE$ that is associated with their disease severity and overall quality of life.	false
+49abc55464b572025771d9844fc65e47aaf30140	Articles on the pathophysiology of @PHENOTYPICFEATURE$ in @DISEASE$ were separately reviewed.	false
+baefc1ab59d18e2e6d48883a7a9660ed1927a838	A case of 'central @PHENOTYPICFEATURE$' is presented in a 3-year-old male Caucasian child with @DISEASE$ (MMD); a rare, progressive and occlusive cerebrovascular disorder predominantly affecting the carotid artery system.	false
+4ec67b18684c201a1263541e029bb7a65d330994	Central @PHENOTYPICFEATURE$ in a young child with @DISEASE$: paternal linkage in a Caucasian family: two case reports and a review of the literature.	false
+b558ed13c45b463bec2bb79854faac4ef5165127	Noonan's syndrome is a multiple congenital anomaly syndrome with characteristic facial features, short stature, @PHENOTYPICFEATURE$ and a recently reported association with @DISEASE$.	false
+85a25532bb751b06b16fe44455d4a4e347aaa345	One brother had @PHENOTYPICFEATURE$, likely due to a combination of tracheostomy status and @DISEASE$.	false
+4631f6857da228b973d6206c451def80bea29b74	In the 3-OHDBTL-treated group, no external and @PHENOTYPICFEATURE$ were observed at 80 mumol/kg and cleft lower lip and @DISEASE$ were observed in only one fetus, but peaked mandible (the tip of lower jaw with acute angle) was specific at 160 mumol/kg.	false
+5395eb235de527f2943a679973d460b911fbf5c6	Technical considerations of endoscopic septostomy using a biportal approach in a case of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+2ccc37dd30f34a0349b45f5ad0c6d477502425c0	Bilateral objective @PHENOTYPICFEATURE$ in an infant with @DISEASE$.	false
+f6313d0a038cd23f7e143f326b277a46b15145e1	All patients (4 men and 3 women; age range, 6-27 years; mean, 13.6 years) had features of @DISEASE$ and obstructive @PHENOTYPICFEATURE$.	false
+fd7efb09bf719e25068ab98bb23e5266c74770e8	We report herein the technical considerations for endoscopic septostomy in a case of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+fb9beceb5f8cc98cd8f26fee1fda3aa676e60c5d	Occlusive @PHENOTYPICFEATURE$ complicating @DISEASE$: report of two cases.	false
+bbc341dad9f2cdc506a2292ab0e8f9716ba35f0a	Collagenoma in a child with @DISEASE$ causing carpal tunnel syndrome and thumb @PHENOTYPICFEATURE$: case report.	false
+3349b28fe557c872fca7e12f64554053bbf2e94f	On the treatment of subependymal giant cell astrocytomas and associated @PHENOTYPICFEATURE$ in @DISEASE$.	false
+eb73ef9b1ac35ff45abd21c6805a356eeb65af1c	Radiological and pathological aspects of @DISEASE$; with special reference to @PHENOTYPICFEATURE$.	false
+048a18b4fecba19bfcdd5c4e6397c1f6559a568d	Three patients with @DISEASE$ who had an enlarging SEGA and concomitant @PHENOTYPICFEATURE$ underwent surgical resection with this modified technique.	false
+281fa670e97924eb1f11d74557ecc0d2e818e3b1	Neonatal @PHENOTYPICFEATURE$ revealing a cardiac rhabdomyoma with @DISEASE$.	false
+84e2865d384d9c5b34866196750cad4bbcfe1613	These results demonstrate that @PHENOTYPICFEATURE$ in @DISEASE$ are secondary to abnormal nervous system control, which leads to increased persistent sodium current.	false
+5388dfee7c64bc4f7d596d4cce4b7f7c6d0e3e93	To assess the clinical effects and safety of Shencao Tongmai Granule (STG) in treatment of patients with @PHENOTYPICFEATURE$ (CHF) (NYHA functional class II - III) of qi deficiency blood stasis and water @DISEASE$ (QDBSWRS).	false
+70686ec16d6e8900ab32b3eda3b32d94b5085370	Fetal alcohol syndrome in association with @DISEASE$: We report on a girl with neonatal dystrophy, microcephaly, @PHENOTYPICFEATURE$, and the characteristic features of alcohol embryopathy.	false
+669d009b967162b7505931008d070c392e4ec6dc	In addition to @DISEASE$ and breast/ovarian cancer observed in other studies, we report evidence for the first time, to our knowledge, that overexpression of ubiquinol-cytochrome c reductase core protein I might affect mitochondrial morphology and/or physiology and lead to development of @PHENOTYPICFEATURE$ and related conditions.	false
+b7c620cfde6220fa77ef1796430009a8cf8250b3	Based on these aspects, we propose a contribution of imbalance between M1 and M2 polarization of microglia in bipolar disorder, @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis, and @DISEASE$.	false
+deb3faf6cae20faafec3d1dc63738fd07aca5cec	Genetic and metabolic alterations such as @PHENOTYPICFEATURE$, gestational diabetes mellitus (GDM), and thyroidism alter epigenetic mechanisms, thereby contributing to neurodevelopmental disorders (NDs) such as embryonic neural tube defects (NTDs), autism, Down's syndrome, @DISEASE$, and later onset of neuropsychological deficits.	false
+2cede025c200a2247fab60080ab1ec0e710c2145	An adult male presented with cerebellar ataxia, @PHENOTYPICFEATURE$, hearing loss, and @DISEASE$.	false
+1a308ae9335eb3565838c3b0b3a35f689dbc259e	Primary pulmonary hypertension, @PHENOTYPICFEATURE$, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Var?@DISEASE$ or report of a new entity.	false
+6888fc549fcb81421b20f2c0c9614d023538462e	The Yunis-Var?@DISEASE$ represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, @PHENOTYPICFEATURE$ and poor outcome.	false
+f744fb506bc9ca5bf2aa0330f3f56548371610ef	Recombinant human EPO has been used to treat various anemias including renal @PHENOTYPICFEATURE$, @DISEASE$, anemia in malignancies and secondary anemia.	false
+37c4d7a7cb984ba048a93c450fff3d70d6d087af	We report a 70-year-old male with a 3-month history of erythema, papules and pustules on the face, ears and neck and over a month history of @DISEASE$, anorexia, @PHENOTYPICFEATURE$, malaise, and fever.	false
+29084ae7cf053968e87143305cdf7156dc5e137a	Thirty-four patients had early @PHENOTYPICFEATURE$ (acute leukemia or lymphoblastic lymphoma in first remission, chronic myelogenous leukemia [CML], or @DISEASE$ [RA]), and 45 patients had more advanced disease.	false
+e0e0598980554a935ef96844539ff97ecf1c390a	Total heme catabolism has been studied through measurement of the endogenous production of carbon monoxide (VCO) in 8 patients with hemolysis, 7 with hypoproliferative @PHENOTYPICFEATURE$, 10 with @DISEASE$ and hypercellular bone marrow and 7 with splenomegaly, 6 of whom had myeloid metaplasia.	false
+14dc050e9dcff65845da9da7ccf112f97ad63540	Patient 2, who had @DISEASE$ with clonal monosomy 19, presented with bowel disease, hepatosplenomegaly, @PHENOTYPICFEATURE$ and non-organ-specific autoantibodies.	false
+c19b96b790b9e57f16097ab2f57b87b17d32c5c1	Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild @PHENOTYPICFEATURE$, inverted nipples, a @DISEASE$, and some neuroradiological features so far not described.	false
+bac023faa44eb065114e543e19ead03261891026	The causes of the @PHENOTYPICFEATURE$ were Perthes disease, avascular necrosis after treatment of @DISEASE$, septic arthritis and rheumatoid arthritis.	false
+958f789357da00a5025635ca4df5df8de7eee56e	One girl exhibited @DISEASE$ and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, @PHENOTYPICFEATURE$, and borderline intellectual disability.	false
+1bd6ab4875c033c9abe5eb3b4565c2d2733b9d06	We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, @DISEASE$, narrow chest with short ribs, and @PHENOTYPICFEATURE$.	false
+ebba4d95b2d30f443004cc3e1d1dc332e8330050	VATER association is the tendency for 5 specific anomalies (vertebral and vascular anomalies [V], @PHENOTYPICFEATURE$ [A], @DISEASE$ [TE], and radial and renal anomalies [R]) to occur together in one individual.	false
+b0047640ccd83beed5e095e73f4d8bca9d352c02	Mutations in Shh, Ihh, and downstream signaling molecules lead to a variety of gross malformations of the murine gastrointestinal tract including @DISEASE$, annular pancreas, midgut malrotation, and duodenal and @PHENOTYPICFEATURE$.	false
+3a5dd48c4d19848fcd58facb5bcefadecafc1a5f	Shenfu decoction (@DISEASE$) can be used to treat patients with sign of Yangqi decline or Yang exhaustion related to @PHENOTYPICFEATURE$ (CHF).	false
+744c40d013de9bc948d5772b4a9a559095e70737	All the patients received standard @PHENOTYPICFEATURE$ therapy, and the @DISEASE$ group patients were also treated with Shenfu granules for 14 days as an adjunctive therapy.	false
+5ea1dd03c0fb76434c252886b5f8c91400df107a	Shenfu decoction (@DISEASE$) is a well-known important traditional Chinese medicine prescription that has been used to treat @PHENOTYPICFEATURE$ (CHF) for many years in China.	false
+d61ef62d5d7f8cf04c3f4048bc1c5c8e69825bc9	Fetal parameters monitored included large-for-date babies (LGA), small-for-date babies (@DISEASE$), birth asphyxia, perinatal death, neonatal hypoglycemia, neonatal @PHENOTYPICFEATURE$ and congenital anomalies.	false
+d52d55630be2a6e80f3770d91840a1dd54698f19	Stroke-prone spontaneously hypertensive rats fed a high-salt, high-fat diet (@DISEASE$) developed @PHENOTYPICFEATURE$ characterized by left ventricular (LV) hypertrophy/pathology and hypocontractility.	false
+a7240dcd769a5fcab4ad16afd1bdce968311e499	frequency of congenital malformations, @PHENOTYPICFEATURE$ (@DISEASE$), intracranial hemorrhage, feeding problems and withdrawal symptoms.	false
+3501a2156e81ff26df7bb3997f8544264ad57e7c	Female C57Bl/6J mice were fed a standard fat diet (@DISEASE$) or a high fat diet (HFD) to induce nutritional @PHENOTYPICFEATURE$.	false
+36ee917ea8b75426b08fe4317c80f5d24384cfff	The results indicated that up to 9--12 months the body weights of rats consuming the CFD or the UFD increased generally faster than those fed the @DISEASE$, and that all rats developed moderate degrees of @PHENOTYPICFEATURE$.	false
+ba6bd20c8584d4565afd6fef8ddb64bea5e2cb44	1. Placental Na+, K+ -ATPase activities were measured in connection with the active transport of amino acid, intra-uterine @PHENOTYPICFEATURE$ (IUGR) or small for date infants (@DISEASE$) in salt-loaded pregnant SHRSP.	false
+a7d5f3e8230a0e8cfccba44fccad443fdfeff053	Resistive indices (RI) in the anterior cerebral artery (ACA), basilar artery (BA), middle cerebral artery (MCA) and descending aorta (DA) were obtained in 15 small-for-dates (@DISEASE$) infants who were, @PHENOTYPICFEATURE$ because of maternal pregnancy-induced hypertension and in 20 appropriate-for-dates (AFD) infants matched for gestational age between 24 h and 48 h after birth.	false
+3870c1386d2891e4c90c1adfc6727fac81a51fbd	Loss of function of the active zone protein Piccolo has recently been linked to a disease, @DISEASE$, which causes @PHENOTYPICFEATURE$.	false
+77cdf4450e907ce3c4aaa608c738ecfac60296fd	Hyperthermia and autonomic hyperactivity occur in patients with head trauma, @PHENOTYPICFEATURE$, neuroleptic malignant syndrome, and @DISEASE$.	false
+3f5b63480c2791ed9bae4e52af21e01c2e59e0f3	To determine the effects of the type and genomic location of UV-induced DNA damage on immunosuppression and acute skin reactions (@PHENOTYPICFEATURE$ and erythema) four congenic mouse strains carrying different defects in NER were compared: CSB and XPC mice lacking transcription-coupled or global genome NER, respectively, as well as XPA and TTD/@DISEASE$ mice carrying complete or partial defects in both NER subpathways, respectively.	false
+eb4f08576e0eb66efdc09919457ae66ed326e678	Seizures associated with calcifications and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d73b6b0ed6136d30476d8eb448b25216f038229	The purpose of this article is to document a case of @DISEASE$ that manifested clinically with bilateral disk @PHENOTYPICFEATURE$ and serous fluid accumulation in the macula of the left eye.	false
+76764d1ce1a6a151e055d858a55219abcb7c8faa	Small rounded hypodensities without mass effect were evident in a computed tomography scan of the head, confirmed by brain magnetic resonance imaging as multiple cystic lesions in both cerebral and cerebellar hemispheres, without perilesional @PHENOTYPICFEATURE$ or gadolinium enhancement, suggestive of @DISEASE$.	false
+f9153fed66ce71e674f378a8c16b660a71007205	Thus, postcontrast imaging is useful in a limited number of patients with @DISEASE$; it should be used selectively in those whose clinical or precontrast MR studies show meningitis, granulomatous lesions, or cysts with surrounding @PHENOTYPICFEATURE$.	false
+1db6eff436fa0da3962dae04543ff3b6743430dc	On univariate analysis, the number of @DISEASE$ lesions, number of bands on the baseline neurocysticercosis western blot, edema volumes on follow-up MRI scans, edema volume changes between baseline and follow-up images, and proportion of calcified lesions with perilesional @PHENOTYPICFEATURE$ were all significantly increased in subjects who had persistent seizures during the 18-month follow-up period.	false
+a59cf5a6db8f59f0e5efee55164e99421f430dd2	On univariate analysis, the number of @DISEASE$ lesions, number of bands on the baseline neurocysticercosis western blot, edema volumes on follow-up MRI scans, @PHENOTYPICFEATURE$ volume changes between baseline and follow-up images, and proportion of calcified lesions with perilesional edema were all significantly increased in subjects who had persistent seizures during the 18-month follow-up period.	false
+92e0fe02ab9c65a537752532330e50e86621b2ad	On univariate analysis, the number of @DISEASE$ lesions, number of bands on the baseline neurocysticercosis western blot, @PHENOTYPICFEATURE$ volumes on follow-up MRI scans, edema volume changes between baseline and follow-up images, and proportion of calcified lesions with perilesional edema were all significantly increased in subjects who had persistent seizures during the 18-month follow-up period.	false
+cf15a358fc2335f8253f6c7c8cc838d3483001fa	CT scan showed a single ring-enhancing lesion with perifocal @PHENOTYPICFEATURE$ in left thalamic area suggestive of @DISEASE$.	false
+80cf8cb75c3cfc7d5d087e2cc1ad2a87b75a5fe3	An 80 year old male with metastatic @DISEASE$ presented with @PHENOTYPICFEATURE$ and extraocular movement abnormalities, and was found to have a lesion of the orbit consistent with metastatic spread.	false
+63fca0d1ff633f2220b19089a68da725383e9a36	Clinical symptoms associated ocular dysfunction, @DISEASE$ due to hypothalamic disorders, @PHENOTYPICFEATURE$ and alveolar hypoventilation.	false
+eb2803f15afb268813154b6d604a9e48228784c8	Tumor-related major manifestations are visual impairment, oculomotor @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+5365a4a4301562e025ecfb3e77ee486716aa00e1	We describe a 6-year-old girl with multiple @DISEASE$, severe cognitive impairment, bilateral cleft lip and palate, midline facial capillary malformation, erythema of hands and feet and dysplastic cranial vessels, low anti-thrombin III activity, hemifacial overgrowth due to progressive infiltrating lipomatosis with @PHENOTYPICFEATURE$, marked vascular proliferation and erythema of hands and feet, and abnormal cranial vessels.	false
+83b64981cc1c05023c375b4b160d98cbde66bd3a	Of these, 28 patients had @PHENOTYPICFEATURE$, 11 had Alagille's syndrome, five had progressive familiar intrahepatic cholestasis and nine had different disorders such as @DISEASE$, alpha-1-antitrypsin deficiency, mitochondriopathy, congenital infections or cholestasis caused by unknown reasons.	false
+128f4b914ac0e1b0f053ee7fedc8e3d8ae177c2c	We present a case of MGCP with internal carotid aneurysm in a 57-year-old woman, who presented with oculomotor @PHENOTYPICFEATURE$, postorbital pain, and @DISEASE$ as onset symptoms.	false
+40c8826c66098408686ef964407b672efd624a6d	Our findings further suggest that a dosage effect of SOX3 may to be responsible for a @PHENOTYPICFEATURE$ in addition to short stature secondary to @DISEASE$.	false
+6e2d24ef8c45504a433fdacb205d24156b619b9c	@PHENOTYPICFEATURE$ as the first manifestation of multihormonal @DISEASE$ causing normovolemic hyponatremia.	false
+fc045f06f124faff8056b263667e90a67a9e4471	We herein report a case study of a female newborn with multiple @DISEASE$ who presented with @PHENOTYPICFEATURE$, hypoglycemia and hyperammonemia at 18?h after birth.	false
+365e25950ba340bf19aa3051780ea8877ac3d528	isolated hemihypertrophy; sporadic @PHENOTYPICFEATURE$, which is almost always associated with del(11p13); genital anomalies, particularly male pseudohermaphroditism and the Denys-Drash syndrome; and more weakly associated or uncommon conditions, such as neurofibromatosis and @DISEASE$, respectively.	false
+ed8584679b1dff2f9ee0124c003d39b829da902a	@DISEASE$ patients consistently showed electrical, functional, and characteristic morphological @PHENOTYPICFEATURE$ that translate into reduced exercise capacity.	false
+5bd12e29412a5948a0073aaa7f3b3ae27e49db13	We report on an 11-year-old boy with @DISEASE$ type I associated with cerebellar ataxia and nystagmus, but not with @PHENOTYPICFEATURE$.	false
+86e569a98435d0de31fa59896c3940e85fc503cd	Two patients with congenital @PHENOTYPICFEATURE$ type Cogan exhibited a newly recognized association with @DISEASE$, an autosomal recessive kidney disease.	false
+f5178f3322b5ff673326c754c823bcfdc98e234c	Fifty-seven @DISEASE$ ALS with the behavioral variant of frontotemporal dementia (FTD) (ALS-FTD), 12 FTD patients, and 35 control subjects were evaluated by 10 different tests for cognitive and behavioral (mini-mental state examination (MMSE), Hasegawa @PHENOTYPICFEATURE$ rating scale - revised (HDS-R), frontal assessment battery (FAB), Montreal cognitive assessment (MoCA), ALS-frontotemporal dementia-Questionnaire (ALS-FTD-Q), and anosognosia scale), affective (depression, apathy, and behavioral and psychological symptoms of dementia (BPSD)), and activities of daily living (ADL) assessments.	false
+2ccc55a80a64aeb161596d1f5c97cb2dd42335af	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), @DISEASE$ with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/@PHENOTYPICFEATURE$, and tumor predisposition.	false
+878c1765c7770464d8e28c2af7541eeebcba5817	@DISEASE$ with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of macrocephaly, loose anagen hair, growth hormone deficiency in some, and a higher incidence of @PHENOTYPICFEATURE$.	false
+ea8ae6b745c75573749c1d0c27e580e7ad40c3f2	The study included 112 children, with an average age of 12 ? 4.64 years, with various forms of myocardial disease: 63 children with hypertrophic cardiomyopathy (HCM), 9 with suspected myocarditis, 5 with history of myocarditis, 4 with dilated cardiomyopathy (DCM), 9 with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC), 6 with @DISEASE$ (LVNC), 9 with suspected restrictive cardiomyopathy (RCM) to be differentiated with constrictive pericarditis (CP), and 7 with cardiac @PHENOTYPICFEATURE$.	false
+07171334046f393c24d5192217ac00f974eece6d	This mutation had been previously associated with an adult-onset, isolated, @PHENOTYPICFEATURE$ @DISEASE$ (OMIM*605906.0007),	false
+fedb18d67a2cf143f91307b3b5a68d4140e639b7	The patients' diagnoses included amyotrophic lateral sclerosis, multiple system atrophy, @PHENOTYPICFEATURE$, @DISEASE$, Parkinson's disease, and Huntington's disease.	false
+f38a35299219b3d251e85eeeab3c7ce2aef79092	Etiologies of alien limb included @DISEASE$ (n = 108), stroke (n = 14), Creutzfeldt Jakob disease (n = 9), hereditary diffuse leukoencephalopathy with spheroids (n = 5), @PHENOTYPICFEATURE$ (n = 4), progressive multifocal leukoencephalopathy(n = 2), demyelinating disease (n = 2), progressive dementia not otherwise specified (n = 2), posterior reversible encephalopathy syndrome (n = 1), corpus callosotomy (n = 1), intracerebral hemorrhage (n = 1) and thalamic dementia (n = 1).	false
+1a6ef1e7f4a0f0b32c02b91cd6970f06791ff426	X-linked juvenile retinoschisis (@DISEASE$) is a @PHENOTYPICFEATURE$ caused by retinoschisin gene mutations.	false
+ffe0f694d46b641e39c1de78237df880a5268e86	@DISEASE$ (XLRS) is a @PHENOTYPICFEATURE$ caused by retinoschisin gene mutations.	false
+9b60552207a2b17a4fd216b5f30c0d24bb8dd245	@DISEASE$ and @PHENOTYPICFEATURE$: is ivabradine a useful drug?	false
+7965dd98171a14be4851c9de2fc6325377940309	An 82-year-old man with a history of @DISEASE$ and @PHENOTYPICFEATURE$ was admitted to the hospital with respiratory failure.	false
+0067bbb9cd7efdd54f84b7da5a3993f1ffe3e9af	The cardiovascular symptoms and the associated diseases are revised, and we discussed the diagnostic and therapeutic topics, pointing out the necessity to take it into account for any patient with thymoma or @DISEASE$ developing to @PHENOTYPICFEATURE$ or arrhythmias.	false
+e4e180a56177f68a70ca133a754ad9b063d03681	On long-term follow-up the cause of death was related to aggravation of @DISEASE$ in 6 cases, to @PHENOTYPICFEATURE$ in 2 cases (acute myocardial infarction and constrictive pericarditis) and in 2 cases to metastatic disease (thymoma related death - 20%).	false
+9ec549eebaf4b4a230a4570d6121cbc22ba56c2f	Fecal microbiota transplantation (FMT) is being studied and utilized for various medical conditions including Clostridium difficile colitis, inflammatory bowel diseases (IBD), @PHENOTYPICFEATURE$, @DISEASE$, and so on.	false
+a9807cd98795c2b0621c50b652b26f93d06154c7	Conditions as different as @PHENOTYPICFEATURE$, @DISEASE$, malignant hyperthermia, and skeletal muscle fatigue, may be examples of deteriorated control or function of the RyR.	false
+610aec42b5b9c877c2f6422f965a6639ab52e681	Although @DISEASE$ (MG) is frequently mentioned in standard textbooks and journal articles as a rare cause for pulmonary hypertension and right @PHENOTYPICFEATURE$, no case can actually be found in the literature.	false
+7cb36f57f9b1905fb8641d1ca90cf1ed3b4219c5	We propose that even when @DISEASE$ seems unlikely as underlying mechanism of isolated @PHENOTYPICFEATURE$ (because of lack of antibodies, normal repetitive nerve stimulation, and absence of extra-laryngeal involvement after years of follow-up), single-fiber electromyography should be performed and myasthenia gravis treatment should be tried.	false
+4334ce3efa743f2ef2f80d1aabda129623e539a4	We propose that even when myasthenia gravis seems unlikely as underlying mechanism of isolated @PHENOTYPICFEATURE$ (because of lack of antibodies, normal repetitive nerve stimulation, and absence of extra-laryngeal involvement after years of follow-up), single-fiber electromyography should be performed and @DISEASE$ treatment should be tried.	false
+ee0e8c8059ac0dd24c35655abeb7f27725091e7d	The case of an 84-year-old female patient with @DISEASE$, @PHENOTYPICFEATURE$, mitral valve regurgitation and myocarditis is described.	false
+98971c4c88f261297fafe1bd609003b964d76166	Some theories suppose a focal origin even for general pathology such as cancer, sarcoidosis, multiple sclerosis, amyotrophic lateral sclerosis, autism, Guillain-Barr? syndrome, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS), Tourette's syndrome, @DISEASE$, polycystic kidney disease, @PHENOTYPICFEATURE$, Alzheimer's disease and diabetes mellitus.	false
+0fcb4a49b5c89ad906eb9d379ec898ba9787017f	All cases were symptomatic, 2 having severe asphyxia, 1 lissencephaly, 1 Leigh encephalopathy, 2 @DISEASE$ multiple anomalies and 1 @PHENOTYPICFEATURE$.	false
+0eeb715bf646d8fd711d1ed8ee0e39e0504704d2	Skewed X-inactivation in carriers establishes linkage in an @DISEASE$-@PHENOTYPICFEATURE$ syndrome.	false
+8cd006fc0802acf39956241f235e771f6c257494	Physical fine mapping of genes underlying @DISEASE$ and non fra (X)-X-linked @PHENOTYPICFEATURE$ at Xq21.	false
+b48bb0df722dc1014909b32385b531346b58e39e	Genes for @DISEASE$ and @PHENOTYPICFEATURE$ were tentatively assigned to interval 2. Deletions of intervals 4 through 7 were not associated with any clinical abnormality.	false
+321bc617e44a857be50db4dd8bc2a3936d9ac797	@PHENOTYPICFEATURE$ masquerading as @DISEASE$ (DIP): report of 7 cases and review of the literature.	false
+42ab5c8edfa109845ca19ebc1ffb1aaedef19071	The following diseases were diagnosed: sarcoidosis (n = 10), bronchiolitis obliterans organizing pneumonia (n = 3), usual interstitial pneumonia (n = 4), radiation @PHENOTYPICFEATURE$ (n = 2), @DISEASE$ (n = 1), rheumatoid lung (n = 1), vasculitis (n = 1), alveolar proteinosis (n = 1), bronchioloalveolar carcinoma (n = 1), and chronic eosinophilic pneumonia (n = 1).	false
+ff746625bde461f70be44908667f6002b27d3737	The following search terms were used: (inhaled OR nebulised)/AND/morphine AND/Idiopathic pulmonary fibrosis/or/pulmonary fibrosis/or/idiopathic interstitial pneumonia/or/nonspecific interstitial pneumonia/or/non-specific interstitial pneumonia/or/usual interstitial pneumonia/or/@DISEASE$/or/cryptogenic fibrosing alveolitis/or/interstitial pneumonia/or/idiopathic interstitial lung disease/or/chronic interstitial @PHENOTYPICFEATURE$	false
+9b4a9c9d019c0dac95fa473b44233f53adfc00c6	Pulmonary involvement falls into two categories of different grades of clinical significance: (i) the ubiquitous 'lipoid pneumonia', the so-called 'amiodarone effect', which is usually asymptomatic; and (ii) the more appropriately named 'amiodarone toxicity', which includes several distinct clinical entities related to the differing patterns of lung inflammatory reaction, such as eosinophilic pneumonia, chronic organizing pneumonia, acute fibrinous organizing pneumonia, nodules or mass-like lesions, nonspecific interstitial pneumonia-like and idiopathic pulmonary fibrosis-like interstitial @PHENOTYPICFEATURE$, @DISEASE$, acute lung injury/acute respiratory distress syndrome (ARDS) and diffuse alveolar haemorrhage.	false
+f7b1064cecd7f55ca32651d8b9748c0bd4ef3681	The localization of HO-1 was studied in histopathologically healthy lung from nonsmoking patients with a carcinoid or other @PHENOTYPICFEATURE$ (5 cases), pulmonary sarcoidosis (13 cases), and chronic interstitial pneumonias (9 cases, usual interstitial pneumonia; 10 cases, @DISEASE$).	false
+2af06f1d3f7dfa72a008d95392bf7b903de6a402	This study reports an analysis of cells obtained from a college student with @DISEASE$, @PHENOTYPICFEATURE$, and a small penis.	false
+d7d0a471e6002f3532923e766218940ec7dacdfb	Deletions of the long arm of the Y chromosome have previously been associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+faa18fef0e4c18abf9cc4b17605012d02c474d3d	We report on six patients with variable signs of disorders of sex development (DSD) including ambiguous genitalia, @PHENOTYPICFEATURE$, primary amenorrhea, and male infertility with @DISEASE$.	false
+576a97a616f03fb245c0af205f20d71114b4028a	Klinefelter's syndrome is generally characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+15a8fb0f015f6d89e5b1f83bed61bb98a8837217	He had a normally developed musculature and pilose distribution, testicular volume of 15 mL and no gynecomastia but clinical stigmata of Turner syndrome (@PHENOTYPICFEATURE$, short neck and 4th metacarpal bones) and @DISEASE$.	false
+f7122077f06c7e966539fccaf49db0b73eefdfb3	Laboratory evaluation revealed growth hormone deficiency and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+9461064cb774b296b594e296b6fae59ba34ddb38	Usually considered as a variant of Klinefelter syndrome because of shared features (@DISEASE$, tall stature, @PHENOTYPICFEATURE$), it is a separate entity because diagnostic is currently made in prepubertal boy with neuro-psychological disorders.	false
+82ce3a9a153c0668137a5261b90712bfeb81367a	@PHENOTYPICFEATURE$ and @DISEASE$ in a patient with Y chromosome long arm deletion.	false
+1775902bd46fee0b59ffc7f95a6a3d6411e134fb	Based on the phenotype and the laboratory findings, the prognosis given to the patient was for @PHENOTYPICFEATURE$ and @DISEASE$ without an increased risk for gonadoblastomas.	false
+07d18872e0f8844061d12c97138aade5feaf8706	Four adult patients have come to clinical attention due to infertility, with typical features including @DISEASE$ and testis dysgenesis, whereas poorly developed secondary sexual characteristics and @PHENOTYPICFEATURE$ were main complaints of adolescence patients, and short stature was the sole symptom in a child patient.	false
+ec8f30e8b35e47a46ea9e2fa739a0b591bfb90e3	Four adult patients have come to clinical attention due to infertility, with typical features including @DISEASE$ and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and @PHENOTYPICFEATURE$ was the sole symptom in a child patient.	false
+ed1b5a6b1044e60a4333d3ade5e7ef80152fea4e	Constricted maxilla and mandible, scoliosis, bowed radii, @DISEASE$, acromicria and microcephaly with @PHENOTYPICFEATURE$--a new autosomal recessive syndrome?	false
+f022b0ac989904ebea0793a44a6da5473e29a6d4	Bilateral @DISEASE$, club feet, and @PHENOTYPICFEATURE$: a new mesomelic syndrome.	false
+51d28cb5ec62092194c1866befabf3d0890fde72	A @DISEASE$ initially mimicking a microprolactinoma: The case for long-term follow-up of patients with mild @PHENOTYPICFEATURE$?	false
+6589e553ddfb295c5b9b6acc6be9c5572a9430d7	Germline and de novo mutations in the HRPT2 @PHENOTYPICFEATURE$ suppressor gene in @DISEASE$ (FIHP).	false
+59ba2f3809cb19e75553e1802d2e50f7fdd35d8c	@DISEASE$ (FIHP) is an autosomal dominant disorder characterized by uniglandular or multiglandular parathyroid @PHENOTYPICFEATURE$ that occur in the absence of other endocrine tumours.	false
+db06da0bf5ad982b7466ca34e557ae2684bc50f2	@DISEASE$ (FIHP) is an autosomal dominant disorder characterized by uniglandular or multiglandular parathyroid tumours that occur in the absence of other endocrine @PHENOTYPICFEATURE$.	false
+a23d1285d10e37baf497f429f3bcf1376a73b476	Our clinical and genetic findings indicate that this previously reported @DISEASE$ family has hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome.	false
+53b3911037d74f1610cff02f6dfcd27915c2779c	Genetic analyses in patients with @DISEASE$ and hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome.	false
+29f96607c78c334635d33d91399cb876db66e97e	Our results indicate that mutations in genes other than MEN1 may cause @DISEASE$ and familial isolated pituitary @PHENOTYPICFEATURE$.	false
+69541f36b21e67b7b506f72aed78693861ec0ce6	Some patients with @DISEASE$ also have jaw @PHENOTYPICFEATURE$, and members of these families are more likely to have parathyroid carcinoma.	false
+69d63c0bc0a153457e0e7b0aef121edfa5e41fe3	@DISEASE$ (FIHP) is a rare cause of parathyroid (PT) tumors without other @PHENOTYPICFEATURE$ or endocrinopathies.	false
+85a97f9da95755c5d44b2e75bc52ee39d7b82170	@DISEASE$ (FIHP) is a rare cause of parathyroid (PT) @PHENOTYPICFEATURE$ without other neoplasms or endocrinopathies.	false
+dfe91bf6f8d2e8afe5e085e7d7a4c44b55834ecc	@DISEASE$ (FIHP) is another rare autosomal dominant disorder characterized by the development ofparathyroid @PHENOTYPICFEATURE$ as the sole endocrinopathy within a single family.	false
+9fc054ecd8c7c83f34c93f68ecf32d3040c63d20	To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with @DISEASE$ (FIHP), together with 31 parathyroid @PHENOTYPICFEATURE$ (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations.	false
+0b8ad7e20bfa950d9bc15cdb037bbbdd8d81c4f1	To investigate two patients with the hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome and three patients with @DISEASE$ (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations.	false
+b178445457a030ba79ef3b3e5af38a2dff149305	Germline mutations in the HRPT2 gene are associated with the hereditary hyperparathyroidism-jaw @PHENOTYPICFEATURE$ syndrome (HPT-JT) and a subset of @DISEASE$ (FIHP).	false
+f5bb41741e5ab13a1795a4ac5812f3dd9bf74168	@PHENOTYPICFEATURE$ is the most common @DISEASE$ observed world wide.	false
+fd6f4c595463cfc42c238ccfb921110e5d82249b	@PHENOTYPICFEATURE$ is a disease of unknown cause, characterized by the development of @DISEASE$.	false
+9ebe8cdfa38be97e657a478472bd2ca3fb4f7fc7	@PHENOTYPICFEATURE$ and overlying thrombus typically lead to a @DISEASE$ and heart failure.	false
+4a80344c3cfc77d3e0149fd83bb8db395d7d63af	@PHENOTYPICFEATURE$ is the most common @DISEASE$ worldwide.	false
+a9ef42f8e5d2cd37b6e1302b60d5c00ec630d098	@PHENOTYPICFEATURE$, which is a cause of @DISEASE$, is characterized by the deposition of fibrous tissue in the apical region of 1 or both ventricles.	false
+e01e68277510d5907ab46f4ea9c105767b31aeb2	Endomyocarditis (EMC) and left ventricular @PHENOTYPICFEATURE$ (LVEF), clinically known as "endomyocardial @DISEASE$," are important feline heart diseases suspected to have an infectious etiology.	false
+defdde058550862b54cb5cb609c4883d1da42c89	The @DISEASE$ (18q-) is a multiple-anomaly disorder associated with mental retardation, white matter anomalies in the brain, growth hormone deficiency, congenital aural atresia, orofacial cleft (OFC), and @PHENOTYPICFEATURE$.	false
+423ec615e2f13e25ea4b583fd6a133991fad0fbf	Deficiency type @DISEASE$ associated with precocious puberty, @PHENOTYPICFEATURE$ and phthisis bulbi.	false
+6473509eddadbf7bb10d61b47376aba0bb8131bd	Hypersecretion of prolactin persists in two cases; partial or @DISEASE$ is present in four, relevant @PHENOTYPICFEATURE$ remnant in another four and impairment of visual field is present in two cases.	false
+c73900aa959791511c4c4db6f22fa850f63b7a0c	[@PHENOTYPICFEATURE$, developmental retardation, speech delay and mildly dysmorphic features: @DISEASE$ syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].	false
+a315eb299d047e173ebef2d77de7999aedcf9a5f	@DISEASE$ (PMS) is a neurodevelopmental disorder characterized by varying degrees of @PHENOTYPICFEATURE$ delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3.	false
+098f21374c28213a44f417f85a456d162c412251	@DISEASE$ (PMS), also called 22q13.3 deletion syndrome, is a neurodevelopmental disorder characterized by global developmental delay, @PHENOTYPICFEATURE$ speech delays, poor motor tone and function, and autism spectrum disorder (ASD).	false
+dd1fc87cde06ea6b1b2b5cda69cd912e73cb748b	[@DISEASE$, @PHENOTYPICFEATURE$ and mixed connective tissue disease].	false
+f2229da93dbdebf6324f0c98559572ab8e173e96	Currently, adrenal venous sampling (@DISEASE$) is the only reliable method to distinguish unilateral from bilateral @PHENOTYPICFEATURE$ in primary aldosteronism (PA).	false
+ae0bc1dda660d6d4890adaef53e5fcfed25529a8	To determine the proportion of patients with primary aldosteronism whose CT or MRI results with regard to unilateral or bilateral @PHENOTYPICFEATURE$ agreed or did not agree with those of @DISEASE$.	false
+3972e26ac8e4f9ea6ab3f5857145a84ecdf9b66f	It has been suggested that children with @PHENOTYPICFEATURE$ orient towards audiovisual synchrony (@DISEASE$) rather than biological motion and that the opposite pattern is to be expected in typical development.	false
+3a8e728c16e0f845143505841e6ea04ad07f3827	It is present in three groups: (1) If it is associated with @DISEASE$, it occurs only in girls and is due either to an X-chromosomal gene causing the changes in the heterozygote (ie, in the female sex) and penatal death in the hemizygous state (ie, in the male sex), or to an autosomal dominant gene with expression almost wholly limited to the female sex; (2) If it is associated with Bazex's syndrome, it occurs in male and female persons in successive generations and is due either to an autosomal dominant gene or to an X-linked dominant gene; and (3) If it occurs in association with keratosis palmoplantaris dissipata, keratosis follicularis, and @PHENOTYPICFEATURE$ palmoplantaris, it may be due to a recessive gene or a mutation.	false
+93334b060166a19f79173cfb9f285e480dd881f3	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, @DISEASE$, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and @PHENOTYPICFEATURE$.	false
+19aae5f269bf1d354adb2497f8f58b47d1501609	Many patients with @DISEASE$ have the same underlying chromosomal etiology, however the same deletion results in severe dysmorphic features, immune defect, hypocalcaemia and in @PHENOTYPICFEATURE$.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+cb445e46048dc88a68c1e9c1db0852a8059c8eeb	Pulmonary renal syndrome refers to an association of pulmonary and glomerular disease and includes disorders, such as the ANCA-associated vasculitides, anti-glomerular basement membrane antibody disease, @PHENOTYPICFEATURE$, and @DISEASE$ (Henoch-Sch?nlein purpura).	false
+9bcf8473092e5b12792ff154674e48ac609554df	We report a case of an intracranial parasagittal @DISEASE$ in the left parietal lobe accompanied with significant peritumoral @PHENOTYPICFEATURE$ (an extremely rare phenomenon for this tumor), with a review of the literature, to clarify aspects in the diagnosis of this rare tumor.	false
+486b7ad1eb33782c82bec05f7c8fb16a05c61a10	We describe a patient with unexplained rash, @PHENOTYPICFEATURE$, and muscle weakness, who subsequently developed a cavernous sinus syndrome due to a central nervous system @DISEASE$.	false
+41c11e3c865174ae4577441d3693c89d941d7bc0	Peritumoral soft tissue @PHENOTYPICFEATURE$ was found by the STIR sequence only in malignant tumors (69%) of this series, and particularly in osteosarcoma (96%), @DISEASE$ (83%), and giant cell tumor (100%): this associate finding may further contribute to the diagnosis.	false
+c2bc29bc738b26ab108d6f806bf7087413ff9e1b	A total of 10 patients underwent TES (2000-2016) for primary (osteosarcoma, @DISEASE$, @PHENOTYPICFEATURE$ and chordoma) and secondary spinal tumours (lung, breast, thyroid, oesophagus, and meningioma metastases).	false
+16f4c4011b8851513c601257428c89c0c86636f7	A 71-year-old woman who had progressive dyspnea and @PHENOTYPICFEATURE$ two years after resection of a pulmonary trunk @DISEASE$ was diagnosed as severe obstruction to the pulmonary trunk due to the recurrent tumor.	false
+973d8ca928df4d81d5a3342c02395379ece34231	[Recurrent @DISEASE$ after surgery of chronic otitis media with @PHENOTYPICFEATURE$: a case report].	false
+6fa5c2e094ab011e2c1aee4fd773ddccce4db412	Chronic inflammation associated with otitis media with @PHENOTYPICFEATURE$ or surgical invasiveness might induce the recurrence of @DISEASE$.	false
+86c15168c58cada4a1b8de9bc96810323959935e	We analyzed the DAX-1 genes of two unrelated Japanese patients with @DISEASE$ and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic sequencing, and established that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo @PHENOTYPICFEATURE$ in the DAX-1 gene.	false
+4c91138c25990b69edd3a4a5367cf35bea587406	We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic sequencing, and established that @DISEASE$ and hypogonadotropic hypogonadism result from not only inherited but also de novo @PHENOTYPICFEATURE$ in the DAX-1 gene.	false
+51b9224b8a5dc184c0ac9fb6ecbdddb0dab78d4e	Tall stature is a feature in some patients with adrenocorticotropic hormone resistance syndromes and @PHENOTYPICFEATURE$ is recognized in the IMAGe (intrauterine growth retardation, metaphyseal dysplasia, @DISEASE$ and genital anomalies) association.	false
+872dd070cee19707caead35abd4418254eae49a5	Two unrelated boys with @DISEASE$ and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, @PHENOTYPICFEATURE$, psychomotor retardation, and muscular dystrophy.	false
+9d843bcd87ad53e1bbbb8337215828fd117b573a	[@DISEASE$ associated with myopathy with muscle hypotonia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+5906b50f8d0ba1e62fb21f45d35328e9153b6577	We report the case of a 12-year-old boy with a de novo @PHENOTYPICFEATURE$ in the DAX1 gene (for dosage-sensitive sex reversal, @DISEASE$ critical region on the X chromosome, gene 1; also called NROB1).	false
+e72de6212efd1a621156c3bc98c2323c69c5c744	The MOL1592 family included three affected subjects with crystalline retinopathy, skin ichthyosis, @PHENOTYPICFEATURE$ and @DISEASE$, and were found to harbour a homozygous nonsense mutation (c.682C>T, p.Arg228Cys) in ALDH3A2, reported to cause Sj?gren-Larsson syndrome (SLS).	false
+c710ae54ee33a77eb6d2bc80545d68bdd5632b73	These results clearly indicate that @DISEASE$ and hypogonadotropic hypogonadism result from not only inherited but also de novo @PHENOTYPICFEATURE$ in the DAX-1 gene.	false
+5fe3b839938419d1b03d98cf087b080b20cb90fa	We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), @DISEASE$, aniridia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and minor skeletal abnormalities.	false
+e15b05bd69f42d6e94b4874f6be8794bda9e75af	The differential diagnosis must be stablished with: a) congenital processes which present @PHENOTYPICFEATURE$, specially of the nose, b) congenital atrichias o hypotrichias associated to osteoarticular troubles of the growth and c) congenital syndromes with epiphyses in cone (@DISEASE$).	false
+7e81a807d4771b283b18bdcebbe36ea19dbe70f6	Hyperekplexia, also known as startle disease or @DISEASE$, is a neurological condition characterized by neonatal @PHENOTYPICFEATURE$ and a highly exaggerated startle reflex.	false
+d2cdce0b13d9d27e9cb1b803d24ca7f9be4876cf	@DISEASE$ (SPS) is a rare chronic neurological disease characterized by progressing muscle rigidity and painful @PHENOTYPICFEATURE$.	false
+48778bb6a6c83edc17dd4677dfbe69109f56a8a4	@DISEASE$ (SPS) is characterized by muscle stiffness and @PHENOTYPICFEATURE$.	false
+a5f50eeb6b7247c8e0da9b6e3e2f559ae0146f2d	Stiffness, @PHENOTYPICFEATURE$, or both: a case report of @DISEASE$.	false
+d275706063ffdbf922e8b9930e7550e2f77c75ee	The authors report a 71-year-old woman with amphiphysin-associated paraneoplastic @DISEASE$, opsoclonus, and @PHENOTYPICFEATURE$.	false
+7ffe7d5a42eea8cc7a8aa88b0adb86fad4bffd4d	Autoantibodies to GAD (GAD-Ab) are associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ed828e41f8efd9697510cc4dfb7c5395d6834ab7	Acute @PHENOTYPICFEATURE$, Graves' disease, and @DISEASE$.	false
+8cfe370cfe868727cb2786f1ca104cbc8b3d1370	Following surgery, both developed signs and symptoms of @DISEASE$ and later @PHENOTYPICFEATURE$.	false
+58b3cfa75565c1f1c0e7c0d2d60b202bc1e4ef86	Investigations confirmed the presence of an @PHENOTYPICFEATURE$ variant of @DISEASE$.	false
+2e09b483eab78077009460b3cc1874e3350e1142	LADA type diabetes, celiac diasease, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+77515b337fb2c494e10aaae0ae1b05a850e086d8	Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like ? thalassemia X-linked mental retardation syndrome, @DISEASE$, Cockayne syndrome, Rett syndrome, systemic lupus @PHENOTYPICFEATURE$, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others.	false
+933c88033dda3431211bd5c9d69a617686436067	More than 50% of children with @DISEASE$ experience @PHENOTYPICFEATURE$, with obstructive sleep apnea being one diagnosis.	false
+f640f020fac9dbd49e13fef1da38d68b99d98fc1	We describe a case of @DISEASE$ diagnosed because of a family history, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+ac71329da13a2ed112e5e6dd0c32319bb5e343b3	The child presented with a phenotype of @DISEASE$, revealed by acute and refractory @PHENOTYPICFEATURE$, finally leading to death within the first 4 months of life.	false
+1eaef8b419c4a632c1e3b5d0de36ce44ccf6a0d9	A newborn exhibited many typical characteristics of @DISEASE$, including arachnodactyly; contractures of both elbows, knees, and ankles; small-joint laxity; dilated cardiomyopathy; valvular dysplasia and insufficiency; @PHENOTYPICFEATURE$; and pulmonary emphysema.	false
+4035589eebde8ec05d0443f744d78f2f896c1e96	The most severe end of the phenotypic spectrum, the @DISEASE$ (nMFS), is characterized by pronounced atrioventricular valve dysfunction, and death often occurs within the first year of life due to @PHENOTYPICFEATURE$.	false
+4a56de2c7dff408861004e97b0a42e3c2059569e	@DISEASE$, in contrast to classical Marfan syndrome, is characterized by rapidly progressive multi-valvular cardiac disease and death from @PHENOTYPICFEATURE$, typically within the first year of life.	false
+20f86bb401a0b5d32bea26fb2e1cf1e43108c8cb	@PHENOTYPICFEATURE$ in boys with @DISEASE$ with and without ADHD.	false
+f15644fb3f5d1d5d63a022e9ef53a5efd690a3c7	A 14-year-old male is described with @DISEASE$, platyspondyly, a marked delay in bone age, growth retardation that is more expressed in the limbs and @PHENOTYPICFEATURE$.	false
+e1852775221fb87635b67287abd073edd95f079b	Given its rich connectivity and diverse physiologic role, recent studies have explored the CM as potential target for neuromodulation therapy for @DISEASE$, Parkinson's disease, generalized epilepsy, intractable neuropathic @PHENOTYPICFEATURE$, and in restoring consciousness.	false
+c26b3519cfa525a0ea373c22e3a6e9b5ea4bf9ae	Early onset epileptic auditory and @PHENOTYPICFEATURE$ with spontaneous recovery associated with @DISEASE$.	false
+4e873d5f5075f8af4426add0d7cba2a5be177243	We report for the first time a patient with childhood-onset @DISEASE$ (TS) who developed alexia without agraphia, acalculia, @PHENOTYPICFEATURE$ for objects and faces, and preserved mnesic functions in older age.	false
+4239b45accaeda34a3216976c3ead6c3bd4c0a57	Cannabidiol (CBD)-based treatments for several diseases, including @DISEASE$, multiple sclerosis, epilepsy, movement disorders and @PHENOTYPICFEATURE$, are proving to be beneficial and the scientific clinical background of the drug is continuously evolving.	false
+587ee7a85b57cf51c127b76bc019a03c4a593b38	@PHENOTYPICFEATURE$ in a case of @DISEASE$.	false
+666dd41ab6f1aeee68da53e1df9151924ae4325a	Antisaccade @PHENOTYPICFEATURE$ in @DISEASE$: evidence for cortico-striatal network dysfunction?	false
+5dcb9daa00457f5e8aee07f2072b0c7956d10eb9	A 59-year-old man, treated for Gilles de la @DISEASE$, presented with @PHENOTYPICFEATURE$ after an attack during which he punched his right eye with his fist.	false
+771bddd4053daba05621b967ef30fb56473440a8	In 2015, the Italian government authorized the use of cannabis to treat several diseases, including chronic pain generally, spasticity in multiple sclerosis, cachexia and anorexia among AIDS and cancer patients, @PHENOTYPICFEATURE$, @DISEASE$, and certain types of epilepsy.	false
+543cd744380363013b3811235f0dd819461918cb	@DISEASE$ @PHENOTYPICFEATURE$ extraction.	false
+76bec188f0611d4a31748604ae0c9b54d124f4e8	CA is a rare, inherited syndrome characterized by normolipoproteinemic acanthocytosis and progressive neurological disturbances (orofacial dyskinesia, limb @DISEASE$, lip and tongue biting, distal muscle wasting, @PHENOTYPICFEATURE$, absent or diminished tendon reflexes) with adult onset.	false
+b03bf28736e8b23965ceb2a9cbcc7193f41ee975	Four patients developed facial @DISEASE$, @PHENOTYPICFEATURE$, impaired tongue protrusion, abnormal saccades and intermittent eye pursuits, dysarthria and impaired Luria 3 hand test.	false
+dc7d0943091c9fbb72b17875d35817405f306e33	The patients were scanned using spin-echo (SE) sequences; the neurologist was looking for typical symptoms: dysarthria, tremor, @PHENOTYPICFEATURE$, rigidity/bradykinesia and @DISEASE$/dystonia.	false
+a2caf67f050412a29c6a5e355db36f5cdc2bb57a	Twenty-five patients had dystonia, 27 patients had @PHENOTYPICFEATURE$, 7 patients had @DISEASE$-athetosis, 8 patients had tremor, and 7 patients had hyperkinetic movements.	false
+7c03c1979993445295fa142ca9b5ce444dd41566	In addition, there are recent reports of dystonia, @DISEASE$ @PHENOTYPICFEATURE$, and dystonic choreoathetosis occurring as sequelae of streptococcal infection.	false
+708054313145a8853bc0f2da876307b909604c2f	Benign hereditary @DISEASE$ related to NKX2-1 with @PHENOTYPICFEATURE$ and dystonia.	false
+fb0bf89c267fce6b54b7ccd16f8bad14ad8ba1f9	A novel de novo mutation of the TITF1/NKX2-1 gene causing @PHENOTYPICFEATURE$, benign hereditary @DISEASE$, hypothyroidism and a pituitary mass in a UK family and review of the literature.	false
+326ebb55d833ab5ccea052c6d6fdb4acd09b138a	Further analysis showed that dystonia-athetosis-@DISEASE$ was closely associated with position sensory loss, whereas the tremor/myoclonic movements were related to @PHENOTYPICFEATURE$.	false
+ed6beefa38bcb0d8ad5b03d638b9583acd7d7da7	A 67-year-old previously healthy male presented with new onset @DISEASE$ and dystonia associated with headache, @PHENOTYPICFEATURE$, and postural instability 4 days after undergoing endoscopic sinus surgery for chronic sinusitis and nasal polyps.	false
+9122256109a2967422415338aefaac5ae0659067	Benign hereditary @DISEASE$ (BHC) is an autosomal dominant disorder that can be distinguished from Huntington disease by its early onset, stable or only slightly progressive course, and absence of @PHENOTYPICFEATURE$.	false
+85080205a57b97384df5dde483907b00277cb4cc	The @DISEASE$ and @PHENOTYPICFEATURE$ were replicated in all essential respects in all toluene-exposed groups with no appreciable differences attributable to the daily exposure schedules.	false
+14bd39e332e5637fbd018ce2da8fd5bd76be19d2	Laboratory work-up revealed panhypopituitarism (central hypothyroidism, @PHENOTYPICFEATURE$, adrenal insufficiency and @DISEASE$).	false
+cd51f1a991b0745d5dc1f37887b33b289ef9b9c1	In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated @PHENOTYPICFEATURE$, @DISEASE$, vertebral anomalies, eye anomalies, and cardiac malformations.	false
+bf27cde1e3301187e0f84fcbbdbde7e1f3574ff8	We report a child with @PHENOTYPICFEATURE$ complicating @DISEASE$.	false
+975adedf473b466a2519b1ddec4cb609bfd08baf	He had previously suffered from orbital myositis, @DISEASE$ (DI), peripheral neuritis, and @PHENOTYPICFEATURE$.	false
+8bff6ebdee196febf4dba93d31ad33c0e170618d	Laboratory tests revealed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+562272fc9e989809b34dda75ee248d234a31cc7f	To summarize our experience in the management of adipsic @DISEASE$(ADI) accompanied with @PHENOTYPICFEATURE$.	false
+0a0a12df46327e1c1616a2941fd37da0d07e8592	However, other unknown factors may be involved, because up to now there have been no reports of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+be196beff08bb8331868389d6efd98f2a2dd4933	This case illustrates that a beta hCG-germ cell tumour of the suprasellar region causing hypopituitarism can mask the presence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a7377676daa5aca29fbefda1e26a6f904cb1d429	This case illustrates that a beta hCG-germ cell @PHENOTYPICFEATURE$ of the suprasellar region causing hypopituitarism can mask the presence of @DISEASE$ and hypogonadotrophic hypogonadism.	false
+f2ec72e2251e92b9ef0fdfed2ebdc308fe8150ae	Postpartum hemorrhage complicated with irreversible @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fea27956171fdf8b6ce3d5d759f0aeafe7cbaeea	Wolfram syndrome (WS) is an @PHENOTYPICFEATURE$ neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), @DISEASE$ (CDI) and deafness (D).	false
+2da19410f6e9669d0b19933daafccbc352389086	Does an altered leptin axis play a role in @PHENOTYPICFEATURE$ among children and adolescents with @DISEASE$?	false
+ebf44c574d4a816ca99b8c997b9f1d43befa9d26	@PHENOTYPICFEATURE$ terminating in @DISEASE$.	false
+de5d4b0c2afe0adc7a222ed5131dcc705ddd50d8	COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, @PHENOTYPICFEATURE$, @DISEASE$, Cirrhosis and Interstitial Nephritis.	false
+9bd3cd80865f6104bc1284cf467f275ac4b65195	@DISEASE$, @PHENOTYPICFEATURE$, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.	false
+ee6b591369d78bcbc8a76993f785e3312d1e84a8	Of these patients, 53 had @PHENOTYPICFEATURE$, 6 aortic valvar stenosis, and 9 @DISEASE$.	false
+2964d124bde2e006c960418eac9e92a916c7a6bd	In the four index patients symptoms which led to diagnostic studies (whole exome sequencing and metabolomics) resulting in the diagnosis of MPS III; two patients presented with @PHENOTYPICFEATURE$, one with @DISEASE$ and one with neurocognitive decline.	false
+505a088ef950edec680994588c35d70a4605fce8	A male infant developed progressive neuromuscular disease, @DISEASE$ and @PHENOTYPICFEATURE$ since the birth.	false
+595c16dfd5679a94459d8e704366f38eef65e6d8	@DISEASE$ complicated with ventricular aneurysm and @PHENOTYPICFEATURE$.	false
+3ac4d5a165656e831fcc85facdef279ec47220be	@DISEASE$ (HCM) is a common genetic heart disease characterized by @PHENOTYPICFEATURE$, myocardial fibrosis, and impaired ventricular relaxation.	false
+95ea47c0cfccc30725c6ddc3e798389d946315ac	We present a case of subtotal replacement of myocardium by granulocytic sarcoma with minimal bone marrow involvement, representing the first reported case in a child manifested as @DISEASE$, as well as a case of a primary synovial sarcoma arising from the atrioventricular (AV) node, representing the fourth reported pediatric case of a cardiac @PHENOTYPICFEATURE$, and it is the first to arise from the AV node.	false
+81a1f09580f7cc749b6a7461a8534c288b08b462	We present a case of subtotal replacement of myocardium by granulocytic sarcoma with minimal bone marrow involvement, representing the first reported case in a child manifested as @DISEASE$, as well as a case of a primary @PHENOTYPICFEATURE$ arising from the atrioventricular (AV) node, representing the fourth reported pediatric case of a cardiac synovial sarcoma, and it is the first to arise from the AV node.	false
+785d49f774793468f98d277f4e4bf5ddc8d8fb50	@PHENOTYPICFEATURE$ heart disease presenting with features suggesting @DISEASE$.	false
+c114d8e2088732b2103bd79dba1e7278b10db154	Novel association of @DISEASE$, @PHENOTYPICFEATURE$, and a mutation in unconventional myosin VI (MYO6).	false
+9146e535f8c169c73bee9eaceae572467dae75c0	WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Sydenham's chorea is a rare but important @PHENOTYPICFEATURE$ often related to Group A streptococcus and @DISEASE$.	false
+6d73a0f43ece8591103f56b350a85853ee81a8b8	This study demonstrated that 4.5% of PAPS patients had chorea, predominately before PAPS diagnosis, and this @PHENOTYPICFEATURE$ was associated with @DISEASE$ and thrombocytopenia.	false
+bc3f606c02cc841d7e4a3967a6bbaef7c1b24bba	@DISEASE$, juvenile idiopathic arthritis, systemic lupus erythematosus, ankylosing spondylitis/spondyloarthritides, juvenile @PHENOTYPICFEATURE$, juvenile dermatomyositis/polymyositis, Kawasaki disease and other autoimmune vasculitides are the commonest pediatric systemic autoimmune diseases with heart involvement.	false
+9b01a1ca01793b52a3c357523154cf0154efa152	Sydenham's chorea is a @PHENOTYPICFEATURE$ seen in @DISEASE$ with basal ganglia pathology.	false
+284ffaae7ab73d2bb16aa17f6e8dbf865111427a	Among the many risk factors for this disease are age, @PHENOTYPICFEATURE$, hypertension, smoking, type-2 diabetes, @DISEASE$, and chronic kidney disease.	false
+c341e05edc9dfef030cea5c66948e949a5d8c51a	In this paper we summarize the phenomenological and treatment studies of OCD, attention deficit and @PHENOTYPICFEATURE$ disorder (ADHD), and tic disorders in subjects with @DISEASE$, with or without Sydenham's chorea.	false
+c112255606e7e57d4fb8f613f4f292da75bea79d	A major manifestation of @DISEASE$, Sydenham's chorea is commonly manifested by @PHENOTYPICFEATURE$ and psychiatric problems, and also may be a marker for a life-threatening carditis.	false
+e8388ba9f6beba887dd6efbd04a49fc9434124f1	The immunologic culprit receiving the most interest has been Group A Streptococcus (GAS), which began to receive attention as a potential cause of neuropsychiatric symptoms, following the investigation of the symptoms reported in Sydenham's chorea (SC) and @DISEASE$, such as motor tics, vocal tics, and both obsessive-compulsive and attention deficit/@PHENOTYPICFEATURE$ symptoms.	false
+08f173764dccd266a8ab91611d74050748a893fc	Other diagnoses included hypertension, arrhythmia, myocarditis/cardiomyopathy, pulmonary @PHENOTYPICFEATURE$, @DISEASE$/endocarditis, and heart transplant.	false
+10ffad293b21f9a38ca974a3cdd7b39007136ae6	This was a cross-sectional study where consecutive, newly diagnosed rheumatic heart disease patients were assessed and followed up for complications, such as heart failure, pulmonary @PHENOTYPICFEATURE$, atrial fibrillation, recurrence of @DISEASE$, and stroke.	false
+1b96fc4f6a9412f2c40fbbef6db9346e4ddd76b2	We here report the case of a young woman presenting with @PHENOTYPICFEATURE$ which led to diagnosis of a @DISEASE$.	false
+465f90ca4bc300b463b12e3384fe61842325dc0d	We present a case of @DISEASE$ in a 55-year-old male patient known to suffer from Myasthenia gravis, whose chief complaints were fatigability, @PHENOTYPICFEATURE$ and coughing.	false
+21a4d24990bd1f4258ba2ad23b06a04e06df09c1	We report an 86 year-old-man with pituitary metastasis of @DISEASE$ who complained of visual impairment and right @PHENOTYPICFEATURE$.	false
+44efca81f7d868303fac04d65f16c963b52fca5d	We report an 86 year-old-man with pituitary metastasis of @DISEASE$ who complained of @PHENOTYPICFEATURE$ and right ptosis.	false
+ddaa6ab54656df11db38498c6809fe5e0881214a	We herein report a 16-year-old Turkish girl with @DISEASE$, who was found to have total deletion of the TTPA gene as well as @PHENOTYPICFEATURE$, and we present her follow-up data after vitamin E therapy.	false
+ff5c2c8a46996918bc26faf7607195248465b55b	[A @DISEASE$ @PHENOTYPICFEATURE$].	false
+812cd437cbe862a616ee4265ba1c193624ad1f90	Case report of a @DISEASE$ @PHENOTYPICFEATURE$].	false
+12f20a4e0e69725790b7ed940258531fe4b28dd8	[The cytologic diagnosis of @DISEASE$ @PHENOTYPICFEATURE$ (author's transl)].	false
+8ea8a21862fb48fa56b6a699c08ea184d50b5b78	[Hemangiopericytoma--@DISEASE$ @PHENOTYPICFEATURE$].	false
+1f210416a34ee2c826d91ff089045bf92468e0c8	Presentation is classically with malaise, nausea and vomiting, @PHENOTYPICFEATURE$ and @DISEASE$ encephalopathy.	false
+5dafed1887d8c1074597e1f086b5d3820d784579	Presentation is classically with malaise, @PHENOTYPICFEATURE$, abdominal pain and @DISEASE$ encephalopathy.	false
+967a4e6a8d6499437a45fcb4bfbf5c30fc3306f1	Ingestion of drinking water with a high copper content may induce acute gastrointestinal effects, mainly nausea and vomiting, @DISEASE$ diarrhea and @PHENOTYPICFEATURE$.	false
+8e2bff1f8d022ca25837d02859d7099dd90792b8	Ingestion of drinking water with a high copper content may induce acute gastrointestinal effects, mainly @PHENOTYPICFEATURE$, @DISEASE$ diarrhea and abdominal pain.	false
+623dae1bdbd47e5c0c993f51c44acda607cbcba5	An infant with @PHENOTYPICFEATURE$ and renal anomalies: early diagnosis of a @DISEASE$ syndrome.	false
+bab0acc01bd241d2363c99325353d0dd6c21724f	[Diagnosis and treatment of @DISEASE$ @PHENOTYPICFEATURE$].	false
+7c8daa366d94ecc8e37b7ed9b8af389cc9ffe3c7	[Cytological findings in @DISEASE$ @PHENOTYPICFEATURE$].	false
+25061efe8d6a98592a6a13d9477d4cebd9295baa	[A @DISEASE$ @PHENOTYPICFEATURE$: leiomyosarcoma].	false
+731abc5f9dc05ea990509738326e1340933abf18	We review diagnosis and management of selected chronic pain conditions in pediatric patients, including headache, low back pain, hypermobility, chronic fatigue, @DISEASE$, @PHENOTYPICFEATURE$, fibromyalgia, and complex regional pain syndrome.	false
+10aa1998ee216af199045ce02b56c6cda3c6612c	We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of @DISEASE$, gastroparesis, anhidrosis, pupillary dysfunction, and @PHENOTYPICFEATURE$.	false
+975b0d16edcf26e85675e945a46dde12b19e4c2f	Gastrointestinal (GI) symptoms of nausea, @PHENOTYPICFEATURE$, and abdominal pain are common in patients with orthostatic intolerance (OI), including neurally mediated hypotension (NMH) and @DISEASE$ (POTS).	false
+2be8a0a7330623d622216c0ab88bff21b7773d80	Gastrointestinal (GI) symptoms of nausea, vomiting, and @PHENOTYPICFEATURE$ are common in patients with orthostatic intolerance (OI), including neurally mediated hypotension (NMH) and @DISEASE$ (POTS).	false
+26a717f9418cbf93c566657cb933b5e6b64f311d	The @DISEASE$: a potentially treatable cause of chronic fatigue, exercise intolerance, and @PHENOTYPICFEATURE$ in adolescents.	false
+85267f2465b4f1a8a89b71bc0226a897c2caf3b3	Dyggve-Melchior-Clausen syndrome without @PHENOTYPICFEATURE$ (@DISEASE$): morphological findings in the growth plate of the iliac crest.	false
+bd2c9dccb3d1f585377f91633e9c17eb7e1282f9	Dyggve-Melchior-Clausen syndrome without @PHENOTYPICFEATURE$ (@DISEASE$).	false
+e8b419c63f25c090bed7f1d24eb16b0317ee9ae1	Dyggve-Melchior-Clausen syndrome without @PHENOTYPICFEATURE$ (@DISEASE$) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for mental retardation.	false
+ae943b1e6fb6e6956fe270f906a136330e7bd1d1	Dyggve-Melchior-Clausen syndrome without mental retardation (@DISEASE$) (SM) has clinical and radiographic findings similar to those of Dyggve-Melchior-Clausen syndrome (DMC) except for @PHENOTYPICFEATURE$.	false
+e7aa18c561c428b205bc0b0f03e632a37da8a1a7	Dyggve-Melchior-Clausen syndrome without @PHENOTYPICFEATURE$ has clinical and radiographic findings similar to those of @DISEASE$.	false
+2f45c8d7f33ef46fcfed0d51cd73967f0991b03e	@DISEASE$, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, @PHENOTYPICFEATURE$, low IQ and behavioral problems.	false
+10b6f7b8c89896ff279198abbe1c9736eb252de9	Faciogenital dysplasia, also known as @DISEASE$ (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, @PHENOTYPICFEATURE$, low IQ and behavioral problems.	false
+2d1c5e0823abd9e3ba85cafe22a8d768209c9289	The new @PHENOTYPICFEATURE$-associated protein, neuronal growth regulator 1 (NEGR1), is implicated in @DISEASE$ (NPC2)-mediated cholesterol trafficking.	false
+371ce65f8b7f2424580ee101399f28f8d03d1596	Of 452,901 women screened, 17,435 (3.8%) were screen-positive for Down syndrome only; 433 (0.1%) for trisomy 18 only; 1,689 (0.4%) for both Down syndrome and trisomy 18; and 2,947 (0.7%) for @PHENOTYPICFEATURE$, @DISEASE$, or for multiple conditions.	false
+b63a65446d1133f5df062406d072a3553573866c	Smith-Lemli-Opitz (@DISEASE$) syndrome is an autosomal recessive disorder comprised of recognizable facial @PHENOTYPICFEATURE$ retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and cleft palate.	false
+ca8c9cdb269bf467e8fdec896de831244d0b313f	Risk assessment was provided for trisomy 21 and trisomy 18 in the first-trimester and trisomy 21, trisomy 18, @PHENOTYPICFEATURE$, and @DISEASE$ in the second-trimester.	false
+a8c3c0866d87232b2d50dad4e2f2cb4dca4f9745	Children with @DISEASE$ present with specific facial dysmorphism and have multiple congenital anomalies including cleft palate, congenital heart disease, genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+6a46cf1b9a3c3e24fce0a9fcadbb2df88924d9e2	@PHENOTYPICFEATURE$ polydactyly in @DISEASE$ Type II.	false
+485e6789444ec25578f12e976a750696a889af42	This study shows an overview of ocular abnormalities in @DISEASE$, including permanent visual impairment caused by binocular @PHENOTYPICFEATURE$ and nystagmus.	false
+5fbec40e94d40e48b622f492b079e578c481ceec	This study shows an overview of ocular abnormalities in @DISEASE$, including permanent @PHENOTYPICFEATURE$ caused by binocular optic nerve abnormalities and nystagmus.	false
+9ce0ba7ae87b207cab4a2861d7598c82d4a14ef7	Mutations in the ptpn11 gene cause @DISEASE$, LEOPARD syndrome and childhood @PHENOTYPICFEATURE$.	false
+28f3b52b4cb6bd1ef19103f234864e5de1d24dfc	A 9-year-old boy with @DISEASE$ was referred for evaluation of @PHENOTYPICFEATURE$.	false
+ae87de0cab724014a5e281206e88ae91c607a05c	This case highlights the possible association of @PHENOTYPICFEATURE$ formation with MAPK cascade protein upregulation in @DISEASE$.	false
+c2e1f5893f887a863b4b597bbcc01cb6a4176460	What is New: ? There seems to be a delay in the ophthalmological diagnosis and awareness of the broad variety ofophthalmological features including refractive errors and @PHENOTYPICFEATURE$ in @DISEASE$ is needed.	false
+2fd4fb6ed7e934659751e6e0a274958a77476b38	The authors would like to present an unusual case of unilateral retinal detachment, phacodonesis, dense @PHENOTYPICFEATURE$ and ocular coloboma in a 7-year-old Indian Muslim boy with @DISEASE$.	false
+68e6a17b221ee97cbdb8d714d86fed0d70fef495	The pathology of the cancer cases included Hodgkin's lymphoma, non-Hodgkin's lymphoma, osteosarcoma, @DISEASE$, acute lymphoblastic leukaemia (ALL), acute myeloid leukaemia (AML), testicular, @PHENOTYPICFEATURE$, and others.	false
+3001204839278338196584a7ab55f9edb95c9ce8	By clarifying markers and factors involved in @DISEASE$ hyporesponsiveness and their relationships with renal and CVD events, this ongoing study aims to improve evidence-based therapies for renal @PHENOTYPICFEATURE$ in non-dialysis CKD patients.	false
+f5440e97dc3ac43253ac164da12552019098bbdd	Case 2 was an 18-year-old woman with @DISEASE$ suffering from abdominal fullness and fentanyl patch-resistant cancer @PHENOTYPICFEATURE$.	false
+6b6ebc975face30d91de81fab60a4d14d5ff7872	Histologies included neuroblastoma (30%), osteosarcoma (18%), @PHENOTYPICFEATURE$/lymphoma (12%), rhabdomyosarcoma (12%), medulloblastoma/ependymoma (12%), @DISEASE$ (8%), and other (8%).	false
+1bcdc02ade3e49dc855321dce6ecf155c5581c38	A young man undergoing chemotherapy for @DISEASE$ presented with fever, neutropenia, @PHENOTYPICFEATURE$, thrombocytopenia, and a new infiltrate on the chest roentgenogram.	false
+e0641bd8b3ab309b84d9c519d4937bb8949e55b2	In this article, we describe a 12 years old girl with ALL who had @DISEASE$ when she was 8 years old and underwent successful treatment but after two and half years at 12 years old, she came back with pallor and muscular @PHENOTYPICFEATURE$.	false
+e869a8ca6263b010e1f2954ebc8de013e2cae05b	Idiopathic @DISEASE$ followed by progressive spastic cerebral @PHENOTYPICFEATURE$.	false
+e35ba7bdf736d1891e6e59074549445b0c8e7093	A neonatal hemorrhagic stroke, caused by an aortic coarctation, caused right lower limb paresis, swallowing @PHENOTYPICFEATURE$, and @DISEASE$ in a term infant.	false
+9360e78ba3b55bfd8f6cf418783a4957f34cbb24	Partial @DISEASE$ complicating nonketotic hyperglycemic hyperosmolar @PHENOTYPICFEATURE$.	false
+5ca39a8fd5cff6adafab1ea9521bc0d7d25b021e	Hypoxic @PHENOTYPICFEATURE$ is rarely mentioned as a cause of @DISEASE$ (DI) in children.	false
+ada5210a5a78f7efcf1b7fc79bd4ec0d9075c180	A rare syndrome of @DISEASE$ with spastic @PHENOTYPICFEATURE$.	false
+bb5b87b17c50580d29ecfc1cc28fa8278dc3d1ec	Within seven days, the following symptoms developed: akinetic parkinsonian syndrome, @DISEASE$ with hypernatremia and polyuria (6 l/die), hypothyreosis, adrenal insufficiency with adynamia, sopor, hypotension and even hypophyseal @PHENOTYPICFEATURE$.	false
+822b37ae4eaa2118eda60eed8819510abc139653	A 34-year-old male presented with @DISEASE$ accompanied by upbeat nystagmus and @PHENOTYPICFEATURE$.	false
+111c07906f5531b70dd702e4982ed646e8355b8c	[@DISEASE$ complicated with upbeat nystagmus and @PHENOTYPICFEATURE$].	false
+f2b6d4e510f53149be81b536dcb47a16307e50c0	We report the case of a 21-year-old patient who was diagnosed to have @DISEASE$ at the age of 7 years and presented to us at the age of 21 years with progressive spastic @PHENOTYPICFEATURE$ that evolved over four years.	false
+7c9b63d13b1fd61b908472548ffe64e3b874dabf	The syndrome of @DISEASE$ (cDI) and @PHENOTYPICFEATURE$ cerebellar ataxia is rare with only a few reports in the literature.	false
+d3d8aefb83e47fba2b070c90c5eaad32b3df6133	The syndrome of @DISEASE$ (cDI) and spastic @PHENOTYPICFEATURE$ is rare with only a few reports in the literature.	false
+de0cf43bd3e78c5bef68ffdbb668b757a4a735fe	In vivo, ER-37328 showed potent @PHENOTYPICFEATURE$ regression activity against MX-1 and @DISEASE$ tumors.	false
+47dd355e0209eadbd29509573d218293a3fffd0b	In vivo, ER-37328 showed potent tumor regression activity against MX-1 and @DISEASE$ @PHENOTYPICFEATURE$.	false
+3ebfb1b0e9b0f8a33250a420b4de6248049e8ead	@DISEASE$ in a patient with gastric cancer manifested by lower extremity @PHENOTYPICFEATURE$ and hydrocele.	false
+e1ca687db832c634c334b922dcd4e2d6e370352c	Bardet-Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily as renal insufficiency, @PHENOTYPICFEATURE$, @DISEASE$.	false
+b2f1e4e3d8a8351b5aafe34589bcd8dccec83050	A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, @PHENOTYPICFEATURE$, omphalocele, @DISEASE$, renal dilatation, and splayed symphysis pubis.	false
+09833ca9530bfcbe003183bf6411b14762d70d3f	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including @PHENOTYPICFEATURE$, hypospadias, hydrocephalus, spina bifida/encephalocele, cleft lip, @DISEASE$ and imperforate anus.	false
+8753a4261a99cc509c1e75e8d12d527b49e63b9d	Sons of opiate addicts with major depression were at increased risk for @DISEASE$ and global, social, and @PHENOTYPICFEATURE$ compared with sons of opiate addicts without major depression and/or sons of controls with neither drug dependence nor depression.	false
+56d996c80fec39d2176674f0de8a344993253452	Data on education and employment status, IQ, co-occurring symptoms of young adult disinhibited social engagement (DSE), autism spectrum disorder (ASD), @PHENOTYPICFEATURE$, @DISEASE$ (CD), callous-unemotional (CU) traits, anxiety, depression and quality of life (QoL) were also collected.	false
+44bbd0ce04acd4f1541998f188f0ab947598f5b8	The odds ratio for the diagnosis of ADHD increased as the number of Rutter's adversity index predicted ADHD-related psychopathology (depression, anxiety, and @DISEASE$), learning disabilities, @PHENOTYPICFEATURE$, and psychosocial dysfunction.	false
+2e974bb4ac65723ff21ebdd8a8621109731f732b	However, relatively little is known about the relationship between SHS exposure, @PHENOTYPICFEATURE$, and smoking-related psychopathology, specifically attention-deficit/hyperactivity disorder (ADHD) and externalizing disorders such as @DISEASE$ (CD) and oppositional defiant disorder (ODD) in preschool children.	false
+91e14de04d37835edee13f933c67c75c5e66e53c	@PHENOTYPICFEATURE$ of children often interact with bad social, especially familial conditions in the development of @DISEASE$; in the second part of this paper the nature of this interaction is discussed in detail.	false
+e71b0292a8f6a0d17f850edbbee73fd1b60fda41	However, features of systemic embolization, heart failure, atrial fibrillation, cyanosis, cardiac @PHENOTYPICFEATURE$, syncope, and @DISEASE$ have also been reported in the literature.	false
+a9fa0d05b23e464271161193f215e8a016ba80e1	In addition, the association between the following adverse cognitive and behavioral outcomes and such exposures is described: @DISEASE$, attention-deficit/hyperactivity disorder, poor academic achievement, and @PHENOTYPICFEATURE$.	false
+116c94c1814c6060929570a42e52c1432177b1c1	Compared with normal control females, ADHD women had higher rates of major depression, anxiety disorders, and @DISEASE$; and more evidence of school failure and @PHENOTYPICFEATURE$.	false
+563e4b2d3850b73053a2aa76d0a32f1296ecc594	Numerous problems are associated with ADHD: poor academic performance, learning disorders, subtle @PHENOTYPICFEATURE$, @DISEASE$, antisocial personality disorder, poor social relationships, and a higher incidence of anxiety and depression symptoms into adulthood.	false
+20469bccc8adc599dedabbbcbd17f6e7337fb7d1	This study investigated lifetime prevalence rates, demographic characteristics, childhood @DISEASE$ and adult antisocial features, suicide attempts, and @PHENOTYPICFEATURE$ in individuals with obsessive-compulsive disorder (OCD) uncomplicated by or comorbid with any other psychiatric disorder.	false
+324943ef71e832908db7a5a1735e1e99266db767	We report a 34-year-old patient with intractable, childhood-onset, genetic generalized epilepsy (GGE) with tonic, atonic, myoclonic and @PHENOTYPICFEATURE$ treated with @DISEASE$.	false
+24b2b73816b998f413012b0495fc961cf25603e7	Photocoagulation is an effective therapy to control retinal macroaneurysms and nonperfusions and to prevent @PHENOTYPICFEATURE$, particularly in the early stages of @DISEASE$ (stages 2 & 3).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+31069ac262fda827bcf5834cf7f1661bfe3cd3ba	Pernicious anemia, Crohn disease, @DISEASE$, @PHENOTYPICFEATURE$ and psoriasis were also associated with cancers at multiple sites.	false
+dbfaf353f169d0769dfcde051eb377ecc70aedbf	Interstitial @PHENOTYPICFEATURE$ accompanying @DISEASE$.	false
+533e0d158c50c03e86176ca893d9324d104b19bb	A young woman with @DISEASE$ developed @PHENOTYPICFEATURE$, which responded to corticosteroids.	false
+6cc41db74e1d13c2ac00b89f25e8632e518b99ba	Peak onset ages for aortitis syndrome, @PHENOTYPICFEATURE$, Behcet's disease, adrenoleukodystrophy, multiple sclerosis, @DISEASE$ and Crohn's disease were between 20 and 50.	false
+b6333d3bf365e21f7d9eb2a089d6f6bf39a4d8c0	A 15-year-old female with @DISEASE$ developed polyuria, polydipsia, @PHENOTYPICFEATURE$, and fatigue.	false
+84306a46d5a64b917102ae440fcce64669da6196	The most frequent inflammatory chronic bowel diseases are Crohn disease and @DISEASE$, which present extra intestinal manifestations, particularly, arthritis and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+301a4451e9a4c3540fa72132319d1c2f694303a9	@PHENOTYPICFEATURE$ and unexpected myasthenia gravis associated with primary biliary cirrhosis, @DISEASE$ and vitiligo.	false
+ad0ff288174cf3d3f82c9d09eb9afe7cc650d90f	Details of EN and @PHENOTYPICFEATURE$ were gathered by case-note review and questionnaire in 976 @DISEASE$ patients and 483 Crohn's patients.	false
+b36ced05e873a69db0dced0935111776e4f62f54	The @DISEASE$ clinical spectrum includes intellectual disability (ID), short stature, @PHENOTYPICFEATURE$, facial dysmorphisms, exostoses.	false
+6e8e5a049bc387457309c1e3995a0a97b6985def	Four of the five children diagnosed as West syndrome, @DISEASE$, or petit mal epilepsy also had cerebral palsy and @PHENOTYPICFEATURE$.	false
+de5603c6590bb33e883d3ebc7f9634c9cb53561f	Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of @DISEASE$ and suggest screening for this gene in cases of LGS with concomitant @PHENOTYPICFEATURE$ and clinical features overlapping with Rett syndrome.	false
+e3d40d380de2e20f6f2150dcdc9c0440e72b3e8e	Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of @DISEASE$ with concomitant @PHENOTYPICFEATURE$ and clinical features overlapping with Rett syndrome.	false
+4f4650152959c066df1510042a7c84ac48c90b44	Here, we report a patient with Lennox-Gastaut syndrome (@DISEASE$) who developed agranulocytosis associated with fever and @PHENOTYPICFEATURE$ with rufinamide.	false
+ebe2b31386b1333ca31f087a7c48787f115afbd6	Here, we report a patient with @DISEASE$ (LGS) who developed agranulocytosis associated with fever and @PHENOTYPICFEATURE$ with rufinamide.	false
+510347a3fb3e19d53a8d011db03ac835105ff2c4	Besides palmar and plantar @PHENOTYPICFEATURE$, botulinum toxin has demonstrated efficacy in different conditions associated with hyperhidrosis, such as dyshidrosis, multiple eccrine hidrocystomas, hidradenitis suppurativa, Frey syndrome, but also in different conditions worsened by hyperhidrosis such as @DISEASE$, Darier disease, inversed psoriasis, aquagenic palmoplantar keratoderma, pachyonychia congenital.	false
+688f0e5bb0451103df8fe30bd3bd770587ca975d	Clinically it is characterized by erythematous plaques surrounded by sterile pustules associated with @PHENOTYPICFEATURE$, diarrhea, sweating and increasing risk of stillbirth for @DISEASE$.	false
+60060111a791cd1312e422dc9a03a410f04b21c1	@DISEASE$ and intrauterine growth restriction (IUGR) are common obstetrical complications associated with fetal @PHENOTYPICFEATURE$ and hypoxia that reduce the ?-cell mass and insulin secretion.	false
+287fdb4a1c172a1e87c859d87b83e58e62b3d80e	In agreement with @PHENOTYPICFEATURE$ and hyperuremia observed at birth in hypotrophic lambs, with the litter size recorded for each experimental group and with previous results, @DISEASE$ linked to a large litter size gestation could be at the origin of low thyroid hormone levels.	false
+6988432c9aee4cbb1d6640425f764272bd9a6149	With @DISEASE$, there may be chronic or acute on chronic fetal hypoxia with birth asphyxia and hypothermia, neonatal @PHENOTYPICFEATURE$, polycythaemia and coagulopathy.	false
+47894f45216a54a0813859c1b66d32d386598287	@DISEASE$ is associated with fetal @PHENOTYPICFEATURE$, hypoxemia, and elevated plasma norepinephrine (NE) that become increasingly pronounced throughout the third trimester and contribute to intrauterine growth restriction (IUGR).	false
+1e2aaede91a75fb295aea7650be546e6c76c6fbe	@DISEASE$: In the late 1870s, Wernicke identified a clinicopathological condition with ophthalmoparesis, nystagmus, ataxia, and @PHENOTYPICFEATURE$, associated with punctate hemorrhages symmetrically arranged in the grey matter around the third and fourth ventricles and the aqueduct of Sylvius.	false
+af6bf74358b3ed8f06bd3cbf31643d9a080c9eb0	[Terminologic, etiologic, anatomic and clinical considerations on Gayet-Wernicke @PHENOTYPICFEATURE$; relations with Marchiafava-Bignami syndrome and @DISEASE$].	false
+9137b77a9f9a51f8c34758f357b4658caa960d94	@DISEASE$ in a non-alcoholic patient with metastatic CNS lymphoma and new-onset occipital lobe @PHENOTYPICFEATURE$.	false
+a2c9334a93de7efb41b89ca4a73baa1a755a57f3	Many patients with AWS have multiple management issues (withdrawal symptoms, delirium tremens, the @DISEASE$, @PHENOTYPICFEATURE$, depression, polysubstance abuse, electrolyte disturbances and liver disease), which requires a coordinated, multidisciplinary approach.	false
+5b566a32e2c30a59eecad3479f09076f447ea641	Pancreatic @PHENOTYPICFEATURE$ and @DISEASE$ in association with acute pancreatitis: a clinical study.	false
+f9496237588c67c745f060b44e7d6f5290bb5198	Neurobiological effects of alcoholism, such as intoxication, withdrawal @PHENOTYPICFEATURE$, delirium tremens, @DISEASE$, and fetal alcohol syndrome, can be understood as a spectrum of consequences of ethanol's effect on the glutamatergic system.	false
+6f2b3647a75ff0349caf0723a9f39e381614f3b1	The coexisting psychiatric disorders were schizophrenia in twelve patients, and @PHENOTYPICFEATURE$, @DISEASE$, and Alzheimer's dementia in one patient each, respectively.	false
+82c534e53030dbc859b99266b27aad71bcc48692	The differential diagnosis between several diseases characterized by @PHENOTYPICFEATURE$, alcohol ingestion and malnutrition are discussed (chronic alcoholism, acquired hepatocerebral degeneration, Marchiafava-Bignami's syndrome, Morel's lamilar sclerosis, Wernicke-@DISEASE$ and pellagroid encephalopathy).	false
+f59f702ec80537ffdbb612f27bbbb36239a8d8ac	The @PHENOTYPICFEATURE$ recurred with an increasing frequency, leading to a status-like condition associated with @DISEASE$.	false
+89e790b0a25599e2ed46b3bca47edea1aa780a3b	Our objective was to study the prevalence of previously unknown mild @PHENOTYPICFEATURE$ (MCI) in type 2 diabetic patients visiting a tertiary care center with the Montreal Cognitive Assessment (MoCA) test and to study the correlations of HbA1c, fasting blood sugar (@DISEASE$), postprandial blood sugar (PPBS), age, and duration of diabetes with the MoCA scores.	false
+68d11d96e4eca49556cf879e4e2e21dc12dc7ab6	Toxicity consisted of transient proteinuria in 11/15 patients, transient azotemia in 11/18 patients, marked reduction of creatinine clearance in 1 patient, burning pain at site of injection, @PHENOTYPICFEATURE$ in 20/22 patients, change of @DISEASE$ from pretherapy to post-therapy of at least 10 mg/100 ml in 11/17 patients, significantly decreased platelet count in 1/22 patients, decreased Hgb in 2/22 patients, and duodenal ulcer in 2/22 patients.	false
+d5af3cd6b447c98ed11ebf64bd127349b76cb310	The effects of human serum (HS), mouse serum (MS) and fetal bovine serum (@DISEASE$) on cellular delivery and retention of Photofrin were examined using human @PHENOTYPICFEATURE$ cells (A549) cultured in vitro.	false
+3945477d1dd0269d0f175c7fe369a2a1339ffa9d	Embryonic stem cells (ESCs) cultured in leukemia inhibitory factor (LIF) plus fetal bovine serum (@DISEASE$) exhibit @PHENOTYPICFEATURE$ in the expression of naive and primed transcription factors.	false
+394664f4838339a739c0c0822727085b37b4af09	@DISEASE$ (AK) is a rare but serious ocular infection that can result in permanent @PHENOTYPICFEATURE$ or blindness.	false
+11f10ea708763cb0c76bbd3ae821fdb4ca3a92be	@DISEASE$ (AK) is a progressive corneal infection that demands rapid and sensitive techniques for diagnosis to avoid risk of @PHENOTYPICFEATURE$.	false
+ef99ce7ccf86c5d05c4dcb7ff26affa40023b7c0	Seven patients had @DISEASE$, one had Pseudomonas @PHENOTYPICFEATURE$, and the remaining two were asymptomatic.	false
+960f4c88d00886eadcdbc872b7985af8fe267a55	@DISEASE$ has become an important cause of severe ocular inflammation and @PHENOTYPICFEATURE$ in the past two decades.	false
+2ddb30ced2f9f5e8ab244eeed221de09ab5af146	To report the outcomes of implantation of the Boston Type I keratoprosthesis in three patients with @DISEASE$ (AK), a severe infection that can lead to significant @PHENOTYPICFEATURE$.	false
+b398e17ad00c324ca1686739f285d0f9bc3b3f82	@DISEASE$ affects the uvea and posterior chorioretinal area and is associated with permanent @PHENOTYPICFEATURE$ resulting from macular and paramacular scarring, vascular occlusion, and optic atrophy.	false
+9b4c1feb8de3110d32d68fb4c5f03adca549cb3d	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), @DISEASE$ (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+507dcc322201b25e7cd47e16fe6d9309c10f853e	Using an assay that combines tRNA oxidation and circularization we have determined the relative amounts and states of aminoacylation of mutant and wild-type tRNAs in tissue samples from patients with MELAS syndrome (mito- chondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and @DISEASE$ (myoclonus epilepsy with ragged red fibers), respectively.	false
+a964e71f78df4fd2af48218241c0f78345cabddb	To report the clinical picture of the rare association of nanophthalmos and @DISEASE$ and its @PHENOTYPICFEATURE$ surgery outcome.	false
+40915a25e9288af195997e63d24a9c25d34202c6	Examinations of 1427 subjects (2848 eyes) on the Western Bank of the Jordan and in the Ghaza sector have revealed a high incidence of ophthalmic diseases, particularly of conjunctivitis, @PHENOTYPICFEATURE$ (nuclear among other ones), corneal opacities, @DISEASE$, diabetic retinopathies, congenital conditions.	false
+3f723d9007324995a60d527ef88a401127f3d12b	The eye disease may be congenital amaurosis of Leber type, pigmentary @PHENOTYPICFEATURE$ or @DISEASE$ and the electroretinogram (ERG) is of value in the diagnosis of these varieties of hereditary tapeto-retinal degeneration.	false
+f75bb1b7652ac7641629fe4c162c2b4206c9c657	In addition, respiratory distress, @DISEASE$ and @PHENOTYPICFEATURE$ are often seen.	false
+090011fcd514f1c44a2514b375b69d140ffa1380	Recurrent abdominal pain, failure to thrive or patients only with short stature and @DISEASE$ are prominent features in NCDC group whereas abdominal distension, @PHENOTYPICFEATURE$ and recurrent abdominal pain were noticeable features in CCD.	false
+efb75eb15bb0f7d97ecab9e8d333d12dc2357bd6	Recurrent abdominal pain, @PHENOTYPICFEATURE$ or patients only with short stature and @DISEASE$ are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD.	false
+720173afe309c5ba4ff80d5e68f11908b1ca8bd6	clinical data from 1527 patients admitted to hospital with a first-ever @DISEASE$ were prospectively evaluated from 1997 to 2005 assessing the presence of six VRF: diabetes, hypertension, @PHENOTYPICFEATURE$, ischemic heart disease, atrial fibrillation and peripheral arterial disease.	false
+e6ebc94f8ce43ca2b45a1208622ae2ac5a045876	We studied a female patient with a polyautoimmune @DISEASE$ syndrome resembling a mild form of IPEX syndrome but associated with recurrent bacterial infections and mild @PHENOTYPICFEATURE$.	false
+58c4a26843da5ca0c3e1395c8b4ba2b780769828	Autoimmune @PHENOTYPICFEATURE$ is more common in some countries than others and is most often due to autoantibodies to insulin (@DISEASE$).	false
+20eab979734dd5b05dcd6d6c84e9e3b36cb7f24c	Hallmark of autoinflammatory syndromes (@DISEASE$) is the periodic recurrence of 'sterile' inflammatory attacks characterized by @PHENOTYPICFEATURE$ and organ- or tissue-specific inflammation.	false
+4c6f6bb283a3815b506002b1ce52873361c309fb	@PHENOTYPICFEATURE$ and hyperosmolality are associated with poor outcomes among acute ischemic stroke (@DISEASE$) patients.	false
+55e7022d604b50f307b9f265f632e7436495b9bc	Aicardi syndrome (@DISEASE$), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant @PHENOTYPICFEATURE$, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae.	false
+e4255c4ea4c4ae3ecacc6aeed6b9d044e3e34c76	Our findings indicate that in nondiabetic @DISEASE$ patients with mild @PHENOTYPICFEATURE$, IV insulin therapy aimed at maintaining strict glycemic control (PGL 4.5-7.0	false
+b1f85a41407931dbfb9d2b5bdb5d2c6eaece4b63	Patients with @DISEASE$ are associated with @PHENOTYPICFEATURE$, taller stature, lower body mass index (BMI), and deranged bone quality.	false
+477d7f1de8177edd566a21d154a535fbaeba2549	Autoinflammatory syndromes (@DISEASE$) are characterized by recurring events of inflammation, leading to a variety of organ manifestations and @PHENOTYPICFEATURE$ attacks.	false
+b23a7947bd1dca764fedb05449ed1adc8c54572d	We evaluated the association between @PHENOTYPICFEATURE$ and hyperosmolality, as a combination measure, with poor outcome among @DISEASE$ patients.	false
+8cd69fa7a8ac7aec0c76a12789c6df6ff5c2da5a	We examined an infant who had prenatal onset of a @PHENOTYPICFEATURE$ that had many features in common with @DISEASE$, including the clinical and light and electron microscopic findings of both corneas.	false
+a42caa5aa0997a4f15f2b91e06cbcc709c6fdbf7	The autosomal recessive @PHENOTYPICFEATURE$ known as "@DISEASE$, type Maroteaux" (AMDM) maps to an interval that contains NPR2.	false
+65eaeb20052ccae4d7f8c7802f8b45f5eb9d02fe	Homozygous mutations in human NPR-B cause @DISEASE$, type Maroteaux (OMIM 602875), an autosomal recessive @PHENOTYPICFEATURE$.	false
+69539e5ace5d1795ebc55c38d4b1052b1663b903	Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause @DISEASE$ type Maroteux, a @PHENOTYPICFEATURE$ with extremely short stature.	false
+61af23e0b14cdfcca2682c1f3d644dab02669e39	Differential diagnosis should mainly out-rule @DISEASE$ that includes @PHENOTYPICFEATURE$, accelerated skeletal maturation, growth deficiency, and mental retardation.	false
+2e3ce9b4b11568b355ea3f53193c6ade6e7b1e28	These features prompted us to consider NFIX as a candidate gene for @DISEASE$ (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and @PHENOTYPICFEATURE$.	false
+ef541097f51bf9b36b8dfc0c5cc711e29f47fcbb	The @DISEASE$ (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and @PHENOTYPICFEATURE$, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.	false
+580ed0c3f61175cc18b57969c579d1d5a0ae8ab9	The @DISEASE$ is characterised by overgrowth, accelerated skeletal maturation, and @PHENOTYPICFEATURE$, often associated with mental retardation of variable degree.	false
+212f12b26ccf3a9e4fe521957e9b233473e16976	The child presented the typical manifestations of the @DISEASE$, with a narrow thorax, pectus excavatum, large hands and feet, long neck, @PHENOTYPICFEATURE$, high and arched palate, and accelerated osseous maturation.	false
+e98f30a778c29b46474df2a17172e19c157ca967	Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (@DISEASE$), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and @PHENOTYPICFEATURE$.	false
+45dacf5918080c9f4d9a863bdfc2182d177c708a	Five highest adjusted relative risks for birth defects among multiple births were: anencephalus, @PHENOTYPICFEATURE$, hydrocephalus without spina bifida, pulmonary valve atresia and stenosis, and @DISEASE$.	false
+120194de758297544b5229a68e1d9ecfaed665bb	Research included 56 patients hospitalized in Department of Rheumatology (Medical University of Bialystok), by the reason of rheumatic arthritis (RA), systemic lupus erythematosus (SLE), ankylosing Spondylitis (AS), systemic @PHENOTYPICFEATURE$, Churg-Strauss syndrome (@DISEASE$) and psoriatic arthritis (PA).	false
+73b58e7187b4e27505db5921a67f54ce93728cd1	Standardized calibrated severity scores (@DISEASE$) have been created for Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) Modules 1-4 as a metric of the relative severity of @PHENOTYPICFEATURE$-specific behaviors.	false
+eb1f191aa369940ff4987218573b8f8789753fb4	Syndrome of developmental retardation, facial and @PHENOTYPICFEATURE$, and hyperphosphatasia in two sisters: nosology and genetics of the @DISEASE$.	false
+6334913c5d8f99b3b78bf763eb61141df35d9d8c	mRNA expression of PD1, PDL1 and CD3 was measured by single step RT-qPCR and correlated to clinicopathological parameters, recurrence-free survival (RFS), progression-free survival (PFS) and @PHENOTYPICFEATURE$-specific survival (@DISEASE$).	false
+3b7f3f4b5bf809098a8828dea706a48b91f2c9c0	ARID1B haploinsufficiency has already been described in patients with intellectual disabilities with or without corpus callosum abnormalities, @DISEASE$ and @PHENOTYPICFEATURE$ (OMIM 614562 and OMIM 614556).	false
+4bf11346800c3e21b4fefb999deb952b342e9c58	ARID1B mutations in @DISEASE$ are a cause of intellectual disability (0.5-1%), with various degrees of @PHENOTYPICFEATURE$ and agenesis of the corpus callosum (10%).	false
+c764546a4554a16b8c8786298dc0a66ff034b1d5	ARID1B gene mutations have been associated with two hereditary syndromic conditions, namely Coffin-Siris (@DISEASE$, MIM#135900) and Nicolaides-Baraitser syndromes (NCBRS, MIM#601358), characterized by @PHENOTYPICFEATURE$, craniofacial dysmorphisms and skeletal anomalies.	false
+ee81699bb9848220d83c297676521d1a3e6f24fc	ARID1B gene mutations have been associated with two hereditary syndromic conditions, namely Coffin-Siris (@DISEASE$, MIM#135900) and Nicolaides-Baraitser syndromes (NCBRS, MIM#601358), characterized by neurodevelopment delay, craniofacial dysmorphisms and @PHENOTYPICFEATURE$.	false
+bcc023aba8c244c6c28e726b6875e198149ac6a6	Baseline clinical characteristics were similar between both groups, except for @PHENOTYPICFEATURE$ less frequently present in the @DISEASE$ group (P?=?.026).	false
+2247df7e75d34abd2050ca84cfa8e31208e9dd2b	It is characterized by prenatal @DISEASE$, facial dysmorphism, hypotrichosis, and variable @PHENOTYPICFEATURE$ including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+9f8e3106e6e18647bb237eec7c12895d3d4a2e77	Longitudinal analyses indicated overall stability of the @DISEASE$ over 12 to 24 months in children with @PHENOTYPICFEATURE$.	false
+98cd90936733005431bd0bb7b1a4bae708a83e8d	Seminoma, @PHENOTYPICFEATURE$, @DISEASE$, leiomyoma and Wilms tumor have been described in a few patients with 16p11.2	false
+8aa509712ba055bba66b605bf22182bf3b98dedc	Cutting balloon angioplasty of bilateral @PHENOTYPICFEATURE$ due to @DISEASE$ in a 5-year-old child with midterm follow-up.	false
+081a066792ee36e1119917f26391c45aa25471c5	A 26-year-old woman presented with painless vision loss secondary to hypertensive retinopathy in the setting of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a42b13d411f3a0bf2f8dc5ae5babc9f4d0e4dfd8	A patient with @DISEASE$ and stenoses of the left common carotid and subclavian arteries presenting with unilateral episodic @PHENOTYPICFEATURE$ and arm claudication was treated by transluminal angioplasty.	false
+028d6a0b202a3a5c496c82c396e7714be0fa3699	Acquired @PHENOTYPICFEATURE$ from bilateral frontoparietal infarcts associated with @DISEASE$.	false
+f56f8e596d251341741f489f4b5dfefd99cac67b	We report an interesting case of atypical Tolosa Hunt syndrome with bilateral Sclerokeratitis and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+600e7c3ab97d3b3256fe0407190b2f42f959341d	Proximal @PHENOTYPICFEATURE$, in association with stenoses and/or aneurysms of aorta and its branches, suggests a @DISEASE$ and is an important, treatable cause of hypertension in young people.	false
+5aaab5be1e868611659ae9bcb12c1ea9be635c97	Association of HLA-B52 and B39 with seven clinical manifestations--pulmonary infarction, ischemic heart disease, aortic regurgitation, systemic hypertension, @PHENOTYPICFEATURE$, cerebrovascular disease, and visual disturbance--in 132 HLA-typed patients with @DISEASE$ was studied.	false
+6fd110808c1b90e95cca302d586f3adfc82e0aac	We report the case of a 49-year old female patient with @DISEASE$ who presented with severe left pulmonary trunk stenosis resulting in pulmonary hypertension, severe aortic regurgitation due to the dilatation of the ascending aorta, mitral insufficiency, critical left @PHENOTYPICFEATURE$, and probably with left main coronary artery stenosis.	false
+692654a4c14718b149404d824d6def599900458d	Over 20 mutations in ?-cardiac myosin heavy chain (?-MHC), expressed in cardiac and slow muscle fibers, cause @DISEASE$ (MPD-1), a skeletal muscle @PHENOTYPICFEATURE$.	false
+ebebfd865855887c6e9e626b5f80c01a3b081c28	@DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$ and caused by mutations in the MYH7 gene, encoding the slow beta myosin heavy chain.	false
+5cae0e7ff4dc9b0ae641e69b6467c9f502a894e8	@DISEASE$, a type of gestational trophoblastic disease, is a rare @PHENOTYPICFEATURE$ composed of intermediate trophoblasts.	false
+efc57d4635f5bcff27a6f98a0226a5b849c90169	Because of this @PHENOTYPICFEATURE$'s poor response to chemotherapy, a diagnosis of nonmetastatic @DISEASE$ should be followed by prompt hysterectomy.	false
+2fce81a059e4062b62c55859befb735b7f83088c	In addition, @PHENOTYPICFEATURE$ cells from 5 choriocarcinoma and 5 @DISEASE$ cases were examined.	false
+2fe98447f3e8a33792d0b8f0ac581b7098159efb	A malignant @DISEASE$ of the uterus with multiple metastases: A case report of a rare @PHENOTYPICFEATURE$ showing an aggressive behavior.	false
+183885f49227e9e8e66251e154bb038777c72c9e	@DISEASE$ (PSTT) is @PHENOTYPICFEATURE$ of intermediate trophoblast, seen commonly in reproductive age group.	false
+494e73f9e3ee790a4465c8d418a9614f560fdafd	A @DISEASE$ is a rare @PHENOTYPICFEATURE$ that is derived from the cells of the intermediate trophoblast.	false
+449898a608bf2a890aa809c2bd80aea9269755b3	Though immunohistochemistry aids in distinguishing @DISEASE$ from choriocarcinoma, occasional @PHENOTYPICFEATURE$ show overlapping immunohistochemical profiles.	false
+81c0318e03051432184cc1e335b07fa73800df74	@DISEASE$ (PSTT) is a rare, mostly benign @PHENOTYPICFEATURE$, which in 10-15% of cases shows a malignant behavior.	false
+3c1604727a328f38c887e3292baf91b7eec4e37f	The @DISEASE$ specimen revealed to be rather chemoresistant in vitro whereas the other three @PHENOTYPICFEATURE$ were chemosensitive.	false
+67a1bcb319dd8a4634353c7dd70c38451bec775b	Immunostaining on choriocarcinoma and @DISEASE$ showed reduced expression of maspin in all the @PHENOTYPICFEATURE$ cells.	false
+d36b5e4f73ee5e4cf70528f2de87941ffbf186c2	[@DISEASE$ and laughing @PHENOTYPICFEATURE$].	false
+8bdef291278968a51ddd212874cd0b8119d2c03d	The main clinical features of @DISEASE$ were precocious puberty and gelastic seizures, some combine with other kinds of @PHENOTYPICFEATURE$, mental retardation or congenital abnormalities.	false
+e05a376725d7986b65faded963a6b1b7aec303f5	The main clinical features of @DISEASE$ were precocious puberty and gelastic seizures, some combine with other kinds of seizures, @PHENOTYPICFEATURE$ or congenital abnormalities.	false
+7ba10539e96654f83c256a9b36c291d9797df079	@DISEASE$ and @PHENOTYPICFEATURE$: a treatable epileptic encephalopathy.	false
+628453f40ad59dece777f25f690f480579606228	Giant @DISEASE$ and associated @PHENOTYPICFEATURE$ types.	false
+36bf9ae81965dbd29d4d0c23810012a14d210bb5	Gelastic epilepsy, @DISEASE$, precocious puberty, and @PHENOTYPICFEATURE$: a new association.	false
+5f8a0f86c14f0baef3d769f86e96eeb1fadb27e3	[A case of @DISEASE$ with gelastic seizures, precocious puberty, poly- and @PHENOTYPICFEATURE$].	false
+1e3abf6743c3c8bbcf89368ee7277be1b71fbe27	Endoscopic disconnection for @DISEASE$ with intractable @PHENOTYPICFEATURE$.	false
+b59955ada76d0684c65912f5d188af3613ea15ff	We describe a boy who has gelastic epilepsy, precocious puberty, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5abce2ad63cfa47f9b92bd6cc4083acc65915c6c	@DISEASE$ are non neoplastic lesions that may cause precocious puberty with or without complex seizures, personality disorders and @PHENOTYPICFEATURE$.	false
+942bc01fc29113fa8ee0ca44e9754bc2e154a25b	@DISEASE$ are non neoplastic lesions that may cause precocious puberty with or without complex @PHENOTYPICFEATURE$, personality disorders and mental retardation.	false
+75ca1f2c25347873f43f77a1283d486f45bded02	Cranial imaging studies revealed a very rare combination of @DISEASE$ and @PHENOTYPICFEATURE$, which was only reported once previously.	false
+80251ffa6c2ec40ddb87971ef13a64e92f3514fe	High-output @PHENOTYPICFEATURE$ in a fetus with @DISEASE$ associated with large placental chorioangioma: case report.	false
+49e3ddae91da0e07f8680855526174a4cb7f59cd	No @PHENOTYPICFEATURE$ were present in the remaining cases, which included @DISEASE$, osteogenesis imperfecta, and asphyxiating thoracic dystrophy.	false
+4a2922f6ddf62be2c4873a1dd9bfc7e72a06d9b5	In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of @DISEASE$ in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe @PHENOTYPICFEATURE$ and non-immune hydrops fetalis.	false
+8c7b6df4a47313b49a1b7885b3c615adcf6b5bfc	The purpose of this study was to compare the prevalence of overweight and @PHENOTYPICFEATURE$ in typically developing (@DISEASE$) children, children with developmental coordination disorder (DCD) and balance problems (DCD-BP), and children with DCD without balance problems (DCD-NBP).	false
+7c6ab9afbdf958917fb4ab784ef539c05953dddb	Prenatal US had shown severe @PHENOTYPICFEATURE$ and rhizomelic shortening of the limbs, raising the suspicion of @DISEASE$.	false
+cf396042da5cd80eb25a33988ce77c5120440909	BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, @PHENOTYPICFEATURE$ with ocular anomalies, and cardiac @DISEASE$.	false
+f904c26724be96a8348ab6909a3b090e7f9102fd	Accordingly, we report a case of a patient with constitutional @DISEASE$ syndrome and infantile spasms, who became @PHENOTYPICFEATURE$ free after treatment with adrencorticotropic hormone and clonazepam.	false
+1c5ab2da1ab7ad4bda1e79507be0dcbd93d1d60f	The @DISEASE$ is characterized by @PHENOTYPICFEATURE$, relatively specific facies, absent or dysplastic patellas, joint contractures, plantar/palmar furrows, distinctively abnormal toe posture, vertebral anomalies, narrow pelvis, ureteral-renal anomalies, or other abnormalities.	false
+5c5d8336da64c82bd5783f2204c0443733dd7adc	We report our successful experience with a 34-year-old woman, who was genetically affected by @DISEASE$, which causes @PHENOTYPICFEATURE$.	false
+5cd9505507970cd065751f807a655254329bab3f	We report a @PHENOTYPICFEATURE$ male known to have @DISEASE$ syndrome who presented with radial deviation of his right wrist.	false
+1ba13d0007d2db4c660f50ccdbc2305b0a411578	The aim of the study was to describe the prevalence and characteristics of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+dcbe553119bc86542802e3ece267daa25dd6d27f	Estimation of long-chain fatty acids is indicated in boys or young adult males with @PHENOTYPICFEATURE$ or @DISEASE$ of uncertain aetiology.	false
+241169e229b99e4b3c8d8d34feebd42af156b4fb	[Electrolyte concentrations in the sweat of children with pancreatic cystic fibrosis, @DISEASE$ and hypophyseal @PHENOTYPICFEATURE$].	false
+979d85d8b23539aaafa1645a644b3882ca72b319	Episodic @PHENOTYPICFEATURE$ in @DISEASE$: results from a telephonic cognitive assessment.	false
+327ff1647ee57264311d9eb8132d685ee74fa4e5	This can lead to a reduction of @PHENOTYPICFEATURE$ and fatigue in patients with @DISEASE$.	false
+0edb8bcfe60fd07e7d573377aecf9582f999a1ef	Varying combinations of leukodystrophy, myeloneuropathy, @PHENOTYPICFEATURE$, and primary @DISEASE$ were identified in 14 members of four generations of a kindred of 49 persons.	false
+db87770338f80f99e378a091489dfd31c6b70e5b	A family is reported in which there is one case of adrenomyeloneuropathy, one case of @DISEASE$ and at least three heterozygous females with spastic paraparesis and @PHENOTYPICFEATURE$.	false
+6b8488964378bdcec94aaed923c2374f29eded33	An association between celiac disease and other autoimmune disorders--such as insulin-dependent diabetes, @DISEASE$, systemic lupus @PHENOTYPICFEATURE$, rheumatoid arthritis, alopecia areata, and autoimmune endocrine diseases--has been described.	false
+4e3c268918671a06104d560503a7021fbc5dee92	We describe a 32 year old man who presented with contractures, @PHENOTYPICFEATURE$, @DISEASE$ adn secondary hypogonadism.	false
+7caea65829ad167def3d2af08ceb56fee09412f4	was significantly associated with kidney and @DISEASE$, multiple myeloma, and @PHENOTYPICFEATURE$, whereas proteinuria?? 1+ (vs?undetectable/trace) was related to a broader set of cancers (ie, stomach, rectal, liver, lung, ovarian, kidney, bladder, and multiple myeloma).	false
+95447b187a3fedea89866783091884beda71ae07	The purpose of this study was to identify the prevalence of cancer @PHENOTYPICFEATURE$ and its prognostic impact in patients with advanced @DISEASE$ (HNSCC).	false
+d8623f9a82bc310b407875d2b8b281bf0ae86da1	We therefore hypothesize that IL-6 may represent an important therapeutic target for @DISEASE$ patients with cancer @PHENOTYPICFEATURE$.	false
+a07f7be88c0632fed584b449060680d9cf4e5da0	Septin 9 (SEPT9) and @PHENOTYPICFEATURE$ homeobox 2 (SHOX2) methylation in circulating cell-free DNA (ccfDNA) are powerful biomarkers for colorectal cancer (CRC) screening, as well as @DISEASE$ staging and monitoring.	false
+014bed71311bb97f526889bda0581fceb9c18f12	Cancer @PHENOTYPICFEATURE$ is a devastating and understudied illness in patients with @DISEASE$ (HNSCC).	false
+f31bfb855c50dfe402330cd5cba6078ec03f6f74	Immunocompetent murine model of cancer @PHENOTYPICFEATURE$ for @DISEASE$.	false
+da3e892b57be4a782b258eb24a72bb2a37393493	A total of 38 patients with 81 multiple neck node metastases from @DISEASE$ were treated with radiotherapy alone or with radiotherapy plus @PHENOTYPICFEATURE$.	false
+f2a141449dc94a1252c48f016d1bdfe2171090f4	A total of 6 patients (46%) had @PHENOTYPICFEATURE$, 3 (23%) had renal cell carcinoma, 2 (15%) had @DISEASE$, 1 had bronchoalveolar carcinoma of the lung, and 1 had nodular sclerosing Hodgkin's lymphoma.	false
+1e3c1bb78fffbd94420cb80f71a197db8e094a56	A total of 6 patients (46%) had breast carcinoma, 3 (23%) had @PHENOTYPICFEATURE$, 2 (15%) had @DISEASE$, 1 had bronchoalveolar carcinoma of the lung, and 1 had nodular sclerosing Hodgkin's lymphoma.	false
+0dba45948127dd97d818f5eb847cd5ae75e3d620	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and @PHENOTYPICFEATURE$ familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and @DISEASE$.	false
+aee302e10987b2d076671808ef80f007d51fbcf2	Four patients had elevated IgG levels, and 1, with an IgG level >5,000 mg/dL, developed systemic @PHENOTYPICFEATURE$ (later confirmed as @DISEASE$).	false
+30d0f259e34f97fac5e6b05a49529488da27bda6	Abdominal @DISEASE$ with mixed histopathology in a patient with iron deficiency anemia, @PHENOTYPICFEATURE$ and peliosis hepatis.	false
+0382c7ce268a1a7f1b2f637a4696df4ffd1f507c	A mesenteric mass, histologically characterized as @DISEASE$ was found in an 18-yr-old man with at least 11 yr of @PHENOTYPICFEATURE$ and anemia.	false
+46fba062467196b9078fe3607d42ddd2f4a1a763	We report a case of hyaline-vascular @DISEASE$ associated with a cutaneous @PHENOTYPICFEATURE$, pemphigus vulgaris.	false
+cb9d8a64677b25679c0694e079fcaada1dcdb211	No increased prevalence of @PHENOTYPICFEATURE$/arthralgia or characteristics suggestive of @DISEASE$ other than a possible familial predisposition were found when these 31 hypermobile subjects were compared to an age and sex matched two-for-one control group.	false
+17bdaabfb40aa84d03e991c3c5f4d99ef8e67222	We present 6 children with @DISEASE$ (EDS) with concomitant @PHENOTYPICFEATURE$.	false
+45788f525ffa108a1f20c48ab207993903646e16	Mutations affecting both alleles of TNXB cause a severe, @PHENOTYPICFEATURE$ form of @DISEASE$ (EDS).	false
+b3666e5f814890f0415cd2cf3dc72550127cbb60	Mutations affecting both alleles of TNXB cause a severe, @PHENOTYPICFEATURE$ form of Ehlers-Danlos syndrome (@DISEASE$).	false
+3a65fd27a15c5b09127f71f4384a35fff0800f55	@DISEASE$ is a connective tissue disorder that results in joint and generalized tissue hyperlaxity, predisposing patients to early onset @PHENOTYPICFEATURE$.	false
+18230e4fe46692fc6f08f29056e78e6468f6283c	@DISEASE$ type VIB with characteristic facies, decreased curvatures of the spinal column, and @PHENOTYPICFEATURE$ in two unrelated girls.	false
+a0198d5c1ab474abe5a80ad26c45c2ea97b6185e	Although catastrophic vascular complications in vascular @DISEASE$ (EDS) are well recognized, other complications such as @PHENOTYPICFEATURE$ and tendon nodules are rarely reported and poorly characterized.	false
+6998d191912b7fa3cf20079a946c873c0e2a9865	Biallelic mutations in B3GALT6, encoding one of the linker region glycosyltransferases, are known to cause either @PHENOTYPICFEATURE$ (SEMD) or a severe pleiotropic form of @DISEASE$ (EDS).	false
+eca767c32a1dcbc155ab7fab4f8bec1125c51081	[@DISEASE$ with concomitant @PHENOTYPICFEATURE$].	false
+0fe6e3cff9a860b31d01542dd53ef8be2e4f81fc	Palmoplantar @PHENOTYPICFEATURE$ in childhood: a rare complication of vascular @DISEASE$.	false
+798aab0499c35adae60afa091373099830c7613a	At the postnatal stages, T1KO mice with severely reduced CS amounts showed malocclusion, general @PHENOTYPICFEATURE$ and skin hyperextension, closely resembling @DISEASE$-like connective tissue disorders.	false
+e87df90bad97d390cf742f979517628743a35370	The 1p36.3 @DISEASE$ was deleted in all but one of the 184 @PHENOTYPICFEATURE$ with 1p deletion.	false
+dc84d201d22b9f70f48965883d3e61ab1436a958	The @PHENOTYPICFEATURE$- and constitutionally-derived deletions together defined a smallest region of consistent deletion (@DISEASE$) between D1S2795 and D1S253.	false
+f7cf5d0f9179cb68816834db029c8f8c44ac359d	Polylactide (PLA)-based amphiphilic block copolymers and their nanoassemblies designed with stimuli-responsive degradation (@DISEASE$) hold great potential as promising candidates for @PHENOTYPICFEATURE$-targeting drug delivery.	false
+cdbfdd72d41057c6ddf6d899eac70054ee37d600	To evaluate the frequency of clinical indicators for sleep-related respiratory disturbances (@DISEASE$) and the polysomnographical manifestations of these disorders in children with @PHENOTYPICFEATURE$ caused by FGFR3 mutations.	false
+c823bedb286d3156aa0f05fc2568fb300685ea7b	Trisomy 13, or @DISEASE$ is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and @PHENOTYPICFEATURE$.	false
+83429006adf2eaa1ecae1faf0ab83d6345f25eb6	@DISEASE$ syndrome and @PHENOTYPICFEATURE$.	false
+0b81f887d9685c1d671c971857e5d5255dbe5fd3	Cholinergic neuromuscular @PHENOTYPICFEATURE$ in patients with @DISEASE$ seropositive for MuSK antibody.	false
+751fd5b7d1cd937a1c51bb7b61ae7153735953a9	Most notably, cholinesterase inhibitors are used to alleviate the symptoms of neurological disorders like @PHENOTYPICFEATURE$ and Alzheimer's disease and treat @DISEASE$ and glaucoma.	false
+66c94d9fa0312192b7f381b5a9c7c3fe9bf07bf4	In peripheral neuropathies, neuropathic pain syndromes, muscle diseases, migraine, @DISEASE$, depression, panic disease, anxiety, @PHENOTYPICFEATURE$, and software development is in progress.	false
+b471da082276d4043cb11773488f914de20d23cb	Fourteen patients with clinical manifestations of external ophthalmoplegia due to different causes (nine patients with @DISEASE$ and five with ocular @PHENOTYPICFEATURE$) were examined.	false
+c9d46235e521476e4c0ecc6c80fae135b4018b0c	Forty-four patients with diplopia caused by @DISEASE$, ocular @PHENOTYPICFEATURE$, and ocular motor nerve palsies underwent complete orthoptic evaluations before and after intramuscular injection of neostigmine (Prostigmin) methylsulfate.	false
+eaa0eeeb601fcd911d1f9b6b5a4b1307db12318c	Patients were excluded if they had renal failure (creatinine clearance <30 mL/min), heart rate >130 beats/min, hepatic failure, peripheral nerve disease or @PHENOTYPICFEATURE$, stroke, spinal cord damage, or @DISEASE$.	false
+b7b925cd408cf514f1fc54d5f2af2f7c51113f54	[Concurrence of acute autonomic and @PHENOTYPICFEATURE$ and @DISEASE$--a case report and pathogenetic considerations].	false
+17f9ee5d8c775574a02c56bb24852caa69986ce0	Although @DISEASE$ (MG) is frequently mentioned in standard textbooks and journal articles as a rare cause for pulmonary @PHENOTYPICFEATURE$ and right heart failure, no case can actually be found in the literature.	false
+2e3d11ccbbcf8a4f12d7759b610756583bc2f25b	The spectrum of neurological diseases were stroke 64.9%, central nervous system infections (21.8% ), HIV related neurological diseases 3.5%, @PHENOTYPICFEATURE$ encephalopathy (3.4%), dementia (3%), subarachnoid haemorrhage (2.2%), Guillian Barre syndrome (1.2%), Parkinson's disease (1.1%), @DISEASE$ (1.0%), motor neurone disease and peripheral neuropathy and accounted for 0.8% and 0.6% respectively.	false
+af2abac9f364ff58310296df9e32cacf388d0e5e	The spectrum of neurological diseases were stroke 64.9%, @PHENOTYPICFEATURE$ (21.8% ), HIV related neurological diseases 3.5%, hypertensive encephalopathy (3.4%), dementia (3%), subarachnoid haemorrhage (2.2%), Guillian Barre syndrome (1.2%), Parkinson's disease (1.1%), @DISEASE$ (1.0%), motor neurone disease and peripheral neuropathy and accounted for 0.8% and 0.6% respectively.	false
+5530a74eedb6aa60e5b27e6b8190e70294bf7820	Elevated levels were found in 93% of patients with myogenic myopathy, in 54% with @DISEASE$ and in 50% with neurogenic @PHENOTYPICFEATURE$.	false
+1275e4171c3269fc3981c11d271fe1e0675a95b5	Variants in the desmin gene (DES) are associated with desminopathy; a @DISEASE$ mainly characterized by @PHENOTYPICFEATURE$, conduction block, and dilated cardiomyopathy.	false
+311e49c5d5506e1b764270bb07c74dddf42dcd03	De novo truncating mutations in ARID1B, a chromatin-remodeling gene, cause @DISEASE$, a developmental disorder characterized by intellectual disability and @PHENOTYPICFEATURE$; however, how the genetic elimination leads to cognitive dysfunction remains unknown.	false
+19ed04495c14d28649f40e00b7ef704aa03b0f10	Affected individuals share common clinical features described in individuals with @DISEASE$, including coarse facial features, global developmental delay, intellectual disability, @PHENOTYPICFEATURE$, and hypoplasia of fingernails and toenails.	false
+5ba1bad996d65bf3121bb395b67d891a3caec498	@DISEASE$ (CSS) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+1687b696e54659c975e803d48c48817ac433b9b2	Coffin-Siris syndrome (@DISEASE$) (MIM 135900) is characterized by developmental delay, severe @PHENOTYPICFEATURE$, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum.	false
+2f24f650d51ad1aaeed2dd8e7dadd5784d8b73f2	Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of @DISEASE$ and is potentially a common cause of intellectual disability and @PHENOTYPICFEATURE$.	false
+f7ea746b7f6f5b97bea3a8256ec31cf368c97835	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and @PHENOTYPICFEATURE$.	false
+99d905f54b12638c29e1e3cb9617165fca66a87a	Mutations in creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like behavioral disturbances, language and @PHENOTYPICFEATURE$.	false
+16e5cb4651bce1b14c4aba35c84e180c288b2b2c	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement? and behavioral disturbances, language and @PHENOTYPICFEATURE$ ( OMIM #300352).	false
+842dc46958fa246a6684f428fd191904b08187ff	X-linked @DISEASE$ (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe @PHENOTYPICFEATURE$, seizures and behavioral problems.	false
+c89f43214c4c7053f1d9b52a5d22477c1e4a5fe6	The network biology data demonstrated the association of secreted protein acidic and rich in cysteine (SPARC/osteonectin) protein with Alzheimer's disease, Parkinson's disease, Huntington's disease and @DISEASE$ (NBIA) disease, whereas Coagulation factor V may have a role in Brunner Syndrome, Obsessive-Compulsive Disorder, @PHENOTYPICFEATURE$ and Schizophrenia diseases.	false
+6e17f1d3b8a89ba4f0419834b2452542c2ec5019	Mutations in PTEN have been reported in individuals with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b788177a199822b65d2cbfbb55ce787d8a51b92b	Neither @PHENOTYPICFEATURE$ nor macrocephaly were associated with @DISEASE$ (HR 1.06, 95% CI 0.94, 1.19 and 1.03, 95% CI 0.90, 1.19).	false
+65ee16eedbb446f58d30f7b798e0a438bc40e5f2	Neither microcephaly nor @PHENOTYPICFEATURE$ were associated with @DISEASE$ (HR 1.06, 95% CI 0.94, 1.19 and 1.03, 95% CI 0.90, 1.19).	false
+6547b983f5bb3aed8134f32efdf41343e127bcd4	@PHENOTYPICFEATURE$ (@DISEASE$) was detected clinically in affected cats ( n = 6).	false
+8e50be428387b6aa3ae4eb0aa2e5219ff682bf15	There was no association between the presence of @PHENOTYPICFEATURE$ and subtype of @DISEASE$.	false
+a89b49160c102dcb142a1f817064be4aad24c333	This review provides renewed insight regarding current autism research related to oxidative stress, @PHENOTYPICFEATURE$, and altered tryptophan metabolism in @DISEASE$.	false
+355b6ee13f41c4bf390fc4cd90eb8f17c7505433	@PHENOTYPICFEATURE$ (@DISEASE$) is a complex and poorly understood group of conditions.	false
+13a29a0de891e37ca475261203f1fa18c6f86e8b	Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased @DISEASE$ symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of @PHENOTYPICFEATURE$ was observed in the deletion carriers.	false
+30621135c0320fca9d3ca5136cb1c42a1a269f3a	Increased frequency of Autism Spectrum Disorder (@DISEASE$) diagnosis, increased ASD symptom severity, and increased prevalence of macrocephaly were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of @PHENOTYPICFEATURE$ was observed in the deletion carriers.	false
+d6ccafc039eab012a85f8ee3cf48ad412dbbe5ba	Increased frequency of Autism Spectrum Disorder (ASD) diagnosis, increased @DISEASE$ symptom severity, and increased prevalence of @PHENOTYPICFEATURE$ were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers.	false
+1a4f71b876e0600c3de61800d67e219542507c47	Increased frequency of Autism Spectrum Disorder (@DISEASE$) diagnosis, increased ASD symptom severity, and increased prevalence of @PHENOTYPICFEATURE$ were observed in the duplication relative to deletion carriers, whereas reciprocally increased prevalence of microcephaly was observed in the deletion carriers.	false
+8fae1bb2b4265245302a2e5289d62358403ad828	@PHENOTYPICFEATURE$ (@DISEASE$) is a spectrum of disorders that affect the anterior ocular chamber.	false
+d8d6c053c43679dee5db989ac8fe3ab120adce95	Heterozygous Bmp4 mutations in humans and mice cause severe @PHENOTYPICFEATURE$ (@DISEASE$).	false
+19448cba23953e840f95ef8c53d50cb25ca06289	Autism spectrum disorders (@DISEASE$) may present with @PHENOTYPICFEATURE$.	false
+d37d19dbd40bb507f0ae19ccd850b441cab31913	Laparoscopic splenectomy was carried out for the treatment of patients with splenic disorders; 20 idiopathic thrombocytopenic purpura, 1 @PHENOTYPICFEATURE$ and 3 @DISEASE$.	false
+9a0aec86cc7335e4130fef07c8ebd7160cbbdaf7	The complete remission rate is increased and survival time is prolonged in APL patients who receive chemotherapy plus ATRA, whereas @DISEASE$ and other ATRA-related adverse effects including pseudo tumor cerebri, headache, severe bone pain, mucosal and skin dryness, @PHENOTYPICFEATURE$, and cheilitis may be observed especially during induction phase of the treatment.	false
+676b9412a73124dcce2c22f39e4cf1c62473785c	@PHENOTYPICFEATURE$ and @DISEASE$: relationship to the internal carotid artery.	false
+bc5710b98f55edc666e7eccda16a6ae6604385d6	Radiotherapy is used in the treatment of plasmacytoma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+873a8e1b1c1111402f5f1654ad7bbbd8258a833f	Radiosurgery for @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d4ba94fb1357f8ba9e37430afb7c55b6b1ec6a15	Sixty-four patients had a @PHENOTYPICFEATURE$, and 26 had a @DISEASE$.	false
+0d9afb6800c621440f59578e4f836c4dc0a89ac1	There are number of reported cases mimicking malignant @PHENOTYPICFEATURE$ such as @DISEASE$.	false
+9edd19d369ceb4bf62589f5964579ef557ed94c6	@PHENOTYPICFEATURE$ and @DISEASE$ gene profile: implications for immunotherapy.	false
+7e6db40d38f7bd460b46b6f9cb22f40206d9363f	@PHENOTYPICFEATURE$ and @DISEASE$ patients were similar demographically.	false
+114dfae1f32518193b4a7c7729a9bf92b012a445	Management of @PHENOTYPICFEATURE$ and @DISEASE$ with Fractionated Stereotactic Radiotherapy.	false
+065ce894f667d9cdfdab0f34fb984bc9c9b38c4b	@DISEASE$ is a form of malignant @PHENOTYPICFEATURE$ of cartilaginous origin.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+c9ac8697a09fac3f67169f99549b6960cb99d800	@DISEASE$ @PHENOTYPICFEATURE$ expression was significantly more frequent and more intense in KAs than in SCCs (95% versus 63%; P < .01).	false
+92d445c84912789e482bc78ae8996d847aec16e9	Our findings demonstrate that SOCS-3 is a potent regulator of OSM response and suggest that dysregulation of SOCS-3 expression could provide a mechanism for @DISEASE$ resistance acquisition during @PHENOTYPICFEATURE$ progression.	false
+e6fe0112b7ef3dd323db00f3b47358e92375a19d	An inverse correlation was identified between @DISEASE$ @PHENOTYPICFEATURE$ labeling and the density of OSM-labeled tumor-associated macrophages for KAs (r = -.4;	false
+7ac6be6ed48f6ae50b4173686d578d228660f9b7	An inverse correlation was identified between @DISEASE$ tumor labeling and the density of OSM-labeled @PHENOTYPICFEATURE$-associated macrophages for KAs (r = -.4;	false
+914058e5c6e0db1655610e8235d3c3efba0b1f0d	Regressing KAs demonstrated a decreased level of @DISEASE$ @PHENOTYPICFEATURE$ expression compared with mature KAs (53% versus 95%; P = .001),	false
+aac7a51f5e3061f7a5db5d04553da84d2afcc3d0	In the aneuploid L-II @DISEASE$ @PHENOTYPICFEATURE$ suramin preferentially inhibited the growth of aneuploid cells, leading to a decrease in the ratio of aneuploid to diploid cells.	false
+57036ae23073a89e8b0d4a50a36f15bac0b8f8b1	Otospondylomegaepiphyseal dysplasia (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ accompanied by severe hearing loss.	false
+b242a223e0f31512d681c4f6a397460c081403c8	@DISEASE$ (OSMED) is an autosomal recessive @PHENOTYPICFEATURE$ accompanied by severe hearing loss.	false
+cc55f2beacacfa0a4895c6a65e85158858241fec	PDVC57 cells grafted in the skin of mice led to rapid cSCC development, associated with @DISEASE$ expression by @PHENOTYPICFEATURE$-infiltrating neutrophils.	false
+6696ed6a312844bf2892de3004ca8314f9179e26	The oto-spondylo-mega-epiphyseal-dysplasia (@DISEASE$) phenotype is an autosomal recessive trait that is a @PHENOTYPICFEATURE$ with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss.	false
+02b8e89f511ab9797e328d892646bf9fe7ee7d02	High-density coupling of SialylTn epitopes to mAb17-1A induced the strongest immune response against synthetic SialylTn and showed also the highest reactivity against natural targets, such as @DISEASE$ and @PHENOTYPICFEATURE$ cells.	false
+29a2cfeac8d0245c0ae2f5882b27ac09e8391a0d	In this study, we aimed to examine the enhanced antitumor activity of adenovirus-mediated IL-24/@DISEASE$ @PHENOTYPICFEATURE$ suppressor gene cotransfer in human melanoma cells.	false
+dcf2aa671b792e77a24e88c000b97e6eaf87d1fe	Presented here is a summary of three lines of research that have used classical eyeblink conditioning to study three different clinical conditions; @PHENOTYPICFEATURE$, fetal alcohol syndrome, and @DISEASE$.	false
+11e1803c58fd38f54d32ca819e178d174a67b5fb	The extended phenotype may include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dd6018bd1681e202834287355ae911ce535c395f	SERT Ileu425Val in @PHENOTYPICFEATURE$, Asperger syndrome and @DISEASE$.	false
+aff6e91f5bff9910394b28874000672687f1af39	Targeting bed nucleus of the stria terminalis for severe @DISEASE$: more unexpected lead placement in obsessive-compulsive disorder than in surgery for @PHENOTYPICFEATURE$.	false
+75b958a6b76c17dced4d07354d0a3cbeea38a11b	We found no evidence for increased risk of 13 emotional, behavioral, and learning disorders, including @PHENOTYPICFEATURE$, intellectual impairment, and @DISEASE$.	false
+848bad9513f16690f04f1d6867e68662ba8761b3	OPA was highest for @DISEASE$ (OCD) (0.89), Tic disorders (0.88) and @PHENOTYPICFEATURE$ (0.81).	false
+4a03be3510cf39389b004aaaf3e2760157ca92a3	A broad spectrum of psychiatric symptoms was identified across all subtypes of @PHENOTYPICFEATURE$, with depression, generalised anxiety disorder and @DISEASE$ being most common.	false
+3a07ade944c21de8449561c0d364f2e5198cca0e	The criterion validity of the AQ was examined in three matched patient groups (@PHENOTYPICFEATURE$ spectrum conditions (ASC), social anxiety disorder, and @DISEASE$).	false
+78b322fa063600ee5060a1ac7e8d4bedf202a503	The objective was to report a case of @DISEASE$ (OCD) with comorbid somatic symptoms that was complicated by @PHENOTYPICFEATURE$.	false
+e1979e4f4f5cd24b223eadee8c5b45c0c84ecfcf	The relationship between @PHENOTYPICFEATURE$ (PDD) and @DISEASE$ (OCD) has not been extensively studied despite having some phenomenological features in common.	false
+ec9d0e420f754950795018249963e71d34bc40e6	@DISEASE$ (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, @PHENOTYPICFEATURE$, delayed motor and mental development, and growth retardation.	false
+8a56f8d361030bb986e5397a81c082d0d4dab7a7	@DISEASE$ (AT) is a rare multisystem, neurodegenerative genetic disorder that is characterised by progressive @PHENOTYPICFEATURE$, oculocutaneous telangiectasias and immunodeficiency.	false
+af6b91ad93bffb2ea28d2747ec47ec62f34cf54f	The Atm-/- mice recapitulate most of the defects observed in @DISEASE$ (A-T) patients, including a high incidence of lymphoid tumors and immune defects characterized by defective T cell differentiation, @PHENOTYPICFEATURE$, and defective T-dependent immune responses.	false
+f8b638cd65bd4843b918be5bdc16146fb2963d47	Fetal thymus transplantation was performed in three patients with @PHENOTYPICFEATURE$ with abnormal immunoglobulin synthesis, one patient with @DISEASE$, and one patient with immunodeficiency with eczema and thrombocytopenia.	false
+a3256f9efee7ab313ad48b9622dab7274dbecaea	@DISEASE$ (AT), a genetic disorder due to mutation of gene atm characterized by progressive @PHENOTYPICFEATURE$ in combination with oculocutaneous telangiectasias, immunodeficiency, and increased frequency of malignant formations, is inherited according to autosome recessive mechanism.	false
+8cd40a92d432b17d50363cbab2dae42cc2c15fc4	Sleep disorders in those with genetic cerebellar disease, such as spinocerebellar ataxia, Friedreich ataxia, Joubert syndrome, and @DISEASE$, include excessive daytime sleepiness, restless legs syndrome, periodic limb movements of sleep, obstructive apnea, central apnea, and rapid eye movement @PHENOTYPICFEATURE$.	false
+13af97dbd17c72cdfa8a275426a738f1362d962d	@DISEASE$ (A-T) is characterised by progressive @PHENOTYPICFEATURE$, oculocutaneous telangiectasias and immunodeficiency (decreased serum IgG subclass and/or IgA levels and lymphopenia).	false
+24dc60d89910202ed83c0e9a75101d86124035d0	@DISEASE$ (AT), a genetic disorder due to mutations in both alleles of ATM gene, is characterized by numerous @PHENOTYPICFEATURE$, increased frequency of malignant tumors, premature ageing and increased radio sensitivity.	false
+eb7b1757630397db28c45536fc623ed996eb30f4	A genetic link between defects in DNA repair and @PHENOTYPICFEATURE$ has been well established through studies of inherited disorders such as @DISEASE$ and xeroderma pigmentosum.	false
+d0a7c4b134da0d64a2141047b8529ccebe098d21	The chromosomal breakage syndromes--@DISEASE$, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, @PHENOTYPICFEATURE$, immunodeficiency, and an increased incidence of malignancy.	false
+e38b5fa9b7f4caaf4933245268a605d1e8b657ea	@DISEASE$ (A-T) is a genetic disorder characterized by a progressive ataxia, immunodeficiency, @PHENOTYPICFEATURE$, hypersensitivity to ionizing radiation, and predisposition to cancer.	false
+21a96b28c7d35ee7afe7eee27389f346a23eab70	Although the high incidence of chronic rheumatic iridocyclitis is common in children with pauci-articular arthritis, none of this group had been handicapped by severe eye complications or @PHENOTYPICFEATURE$, in contrast to several early cases with systemic or non-@DISEASE$.	false
+c7c9a0a19d192a270646022ffa458739853ebf09	On histopathology, mesial temporal sclerosis (MTS) (24.8%) was the commonest lesion, followed by @PHENOTYPICFEATURE$ (19.6%) and @DISEASE$ (FCD - 15.11%).	false
+ae51b623f57c4d1b066cff3939b049b1b2683918	@DISEASE$ (SCA7) is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary @PHENOTYPICFEATURE$.	false
+af9dc8e5a1e3d47b831cdf20d4496e9d621a8afc	Polyglutamine (polyQ) expansion in Ataxin-7 (ATXN7) results in @DISEASE$ (SCA7) and causes @PHENOTYPICFEATURE$.	false
+d769d7aa65935f5a8867a2bb2279b856d6c47862	Specifically, in @DISEASE$ (SCA7), a neurodegenerative disorder caused by a CAG-repeat expansion in ATXN7 (which encodes an essential component of the mammalian transcription coactivation complex, STAGA), the factors underlying the characteristic progressive cerebellar and @PHENOTYPICFEATURE$ in patients were unknown.	false
+bef396d7076e069dfa8bcb8043eba3d163475650	Larger expansions correlated with areflexia in SCA 2, with pyramidal signs in SCA 3 and with early @PHENOTYPICFEATURE$ in @DISEASE$. Survival was similar among the different SCA subtypes.	false
+e37adb5936c4851f93074b0541b87d5dcab301c6	@DISEASE$ is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and @PHENOTYPICFEATURE$, described in various population groups in the literature.	false
+111caea6dad4b7193703dfbe09f789c22a21dc30	@DISEASE$ (SCA7), a neurodegenerative disease characterized by cerebellar ataxia and @PHENOTYPICFEATURE$, is caused by a CAG repeat expansion in the ATXN7 gene coding region.	false
+ec5d0703e678ef1cc9d2867951722376f9b1c9da	We have approached the role of cellular stress in neurodegenerative diseases caused by polyglutamine expansion (polyQ) in the context of @DISEASE$ (SCA7) that includes @PHENOTYPICFEATURE$.	false
+fa2acd1b6ee80d3300aebcbae912931efc7cd21c	The differential diagnosis of neonatal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+61ccd2e35a360625e9930332570a96514eebc569	Alphafetoprotein in @DISEASE$ and neonatal @PHENOTYPICFEATURE$.	false
+e73423c6e475589ab1edb39edaf38a1c97664a64	Characteristics of Malaysian infants with @DISEASE$ and neonatal @PHENOTYPICFEATURE$.	false
+958dea53ae2726957af6c96def7d58437080f794	These patients were initially labeled as suffering from extra-hepatic @DISEASE$ and neonatal @PHENOTYPICFEATURE$.	false
+b6b2f50e5137abe58af792f97b7a1b48670c4150	Pathology and pathogenesis of neonatal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6d0d323754d6190dffadf6d601dda9445fa9c83c	All infants with @DISEASE$ and neonatal @PHENOTYPICFEATURE$ were correctly identified.	false
+75eb5aee5f6a9517181e1491ebde629f724874db	Differential diagnosis of neonatal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8f6d46432721dd8972b70219578f645a9482c65f	[@DISEASE$ and neonatal @PHENOTYPICFEATURE$.	false
+a437bfe8f13e86816d02a48bc15c9c04741d8912	(The differential diagnosis between neonatal @PHENOTYPICFEATURE$ and @DISEASE$).	false
+d1aa7eabd7313250843a68f9abd4c750243ce831	Liver in @DISEASE$ and neonatal @PHENOTYPICFEATURE$.	false
+862712d3aaf3b5f7ba53422d2f200c8cd18e2964	@DISEASE$, or lateral meningocele syndrome, is characterized by @PHENOTYPICFEATURE$, multiple lateral meningoceles, and skeletal abnormalities.	false
+e7a2c4594f0924b50eb2813c77588ae9ff0bb727	Lehman syndrome, or @DISEASE$, is characterized by @PHENOTYPICFEATURE$, multiple lateral meningoceles, and skeletal abnormalities.	false
+72cc64098e55e9da5c8b547d82c9740756951c8d	@DISEASE$ (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific @PHENOTYPICFEATURE$, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness.	false
+0494c3c3cefb48915c8e48d64fdad93c26119171	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylocostal dysostosis), @DISEASE$, neurofibromatosis type I, Marfan syndrome, and @PHENOTYPICFEATURE$.	false
+8664947aa37df5e09ead3128bd0d91be23e7de03	In the case report described we had a case which developed sudden unilateral @PHENOTYPICFEATURE$ following @DISEASE$.	false
+712a1dc2d3d3c01e3002af8b8aeda074b775c9eb	In conclusion, @DISEASE$ should be included in the differential diagnosis in cases of fetal bradycardia without @PHENOTYPICFEATURE$ or maternal autoimmune diseases.	false
+8c4a85a40fd6c1c6d44b3a0c25bf79bddacbf7ee	Young-Simpson syndrome is a rare congenital disorder, characterized by @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation.	false
+d4154036549568e2c7a68b68658fcb426310a336	A nonsense thyrotropin receptor gene mutation (R609X) is associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6c65b19e3ac30c5101c1b42c5e6d23f0bf35be35	@DISEASE$ and early severe @PHENOTYPICFEATURE$.	false
+718b165de85e3f69719981b83ff88c44dbf4d349	An earlier adiposity rebound, suggestive of adult @PHENOTYPICFEATURE$, has been reported in children with @DISEASE$.	false
+42ee51c43d33c01ed98d8891d7705db6679bf8a4	Two newborn infants who had ACF associated with @PHENOTYPICFEATURE$ and @DISEASE$ are described.	false
+1940f1d8d33fd711b04aa76ba0283066122bb6b9	Young-Simpson syndrome: further delineation of a distinct syndrome with @DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism, and mental retardation.	false
+838194226caa390d43997f44863789ee737e01f3	Our goal is to examine rates of obesity and AR in @DISEASE$ (CHT) and analyze the risk factors of @PHENOTYPICFEATURE$.	false
+7b9d2bcad1dcdf573dee41733dd823eda24b4dc4	Our goal is to examine rates of @PHENOTYPICFEATURE$ and AR in @DISEASE$ (CHT) and analyze the risk factors of obesity.	false
+ad8eef959f195eeaff17228779fb829ea6eae1e0	Early adiposity rebound and @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+8d8b9e7010f412fd10e6375515e143c278e9ab2c	@DISEASE$ associated with neonatal tooth, Pierre-Robin syndrome and @PHENOTYPICFEATURE$.	false
+540f27d86b59675dea99ecfa089a627511a5051b	The GT genotype relative to the GG genotype had an age- and sex-adjusted odds ratio of 1.32 for @PHENOTYPICFEATURE$ [body mass index (BMI; in kg/m(2)) >or= 25; P = 0.014] and of 1.33 (P = 0.011) and 1.47 (P = 0.001) for MetS according to modified National Cholesterol Education Program and International Diabetes @DISEASE$ criteria, respectively.	false
+20cafce93e13b3409d6f1a94f3fff9869327c775	These include the: announcement of a @DISEASE$-Provincial-Territorial framework for action to promote healthy weights; implementation of the nutrition labeling initiative; launch of the CBC "Live Right Now" campaign; announcement of the Public Health Agency of Canada's innovation strategy funding related to @PHENOTYPICFEATURE$; publication of the Canadian Health Measures Survey physical activity findings; release of new Canadian physical activity and sedentary behaviour guidelines; launch of ParticipACTION's "Think Again" campaign; workshop on building trust to address the epidemic of obesity; start of the Canadian Pediatric Weight Management Registry; initiation of "Our Health Our Future: A National Dialogue on Healthy Weights"; release of the Active Healthy Kids Canada Report Card on Physical Activity for Children and Youth; National Obesity Summit; Nature Play Day and Sports Day in Canada; development of the Canadian Assessment of Physical Literacy; and the creation of Active Canada 20/20--A National Physical Activity Plan.	false
+b12745784064fe6dd6c6ec32869d4504844a676d	These include the: announcement of a @DISEASE$-Provincial-Territorial framework for action to promote healthy weights; implementation of the nutrition labeling initiative; launch of the CBC "Live Right Now" campaign; announcement of the Public Health Agency of Canada's innovation strategy funding related to obesity; publication of the Canadian Health Measures Survey physical activity findings; release of new Canadian physical activity and sedentary behaviour guidelines; launch of ParticipACTION's "Think Again" campaign; workshop on building trust to address the epidemic of @PHENOTYPICFEATURE$; start of the Canadian Pediatric Weight Management Registry; initiation of "Our Health Our Future: A National Dialogue on Healthy Weights"; release of the Active Healthy Kids Canada Report Card on Physical Activity for Children and Youth; National Obesity Summit; Nature Play Day and Sports Day in Canada; development of the Canadian Assessment of Physical Literacy; and the creation of Active Canada 20/20--A National Physical Activity Plan.	false
+0d429f63ee5afd974e4e931ebad5ba4d66c9c190	These include familial temporal lobe epilepsy, @DISEASE$, and generalized epilepsy with @PHENOTYPICFEATURE$ plus.	false
+f34a904704953c8e1b8573a6038cee78764d904b	Adenylyl cyclase drugs cAMP, cpt-cAMP, Sp-cAMP, Rp-cAMP, adenosine A? agonist, N?-cyclohexyladenosine (@DISEASE$) and GABA(A) agonist muscimol were directly microinfused into the cerebellum of CD-1 male mice to evaluate their effect on ethanol (2 g/kg; i.p.) @PHENOTYPICFEATURE$.	false
+23a91c844301e3d4ce1e325c6dcbdc10535ae35f	Finally, tolerance in chronic ethanol/?(9)-THC/-treated animals developed not only to ethanol/?(9)-THC-induced ataxia, respectively, but also to the @PHENOTYPICFEATURE$ potentiating effect of @DISEASE$ and muscimol, indicating modulation by cerebellar adenosinergic A1 and GABAA receptors.	false
+0fdf84210b7038069ecabdbe32ec3d0edb3fbace	Finally, tolerance in chronic ethanol/?(9)-THC/-treated animals developed not only to ethanol/?(9)-THC-induced @PHENOTYPICFEATURE$, respectively, but also to the ataxia potentiating effect of @DISEASE$ and muscimol, indicating modulation by cerebellar adenosinergic A1 and GABAA receptors.	false
+0926b44e14634b47399f999a1d5c072e32d99b6a	Cyclohexyladenosine (@DISEASE$), an adenosine A(1) receptor agonist, potentiated the effects of ANG III and ANG IV on the @PHENOTYPICFEATURE$ threshold and kindling, whereas DPCPX (an A(1) receptor antagonist) reversed peptide-induced effects on the PTZ kindling.	false
+99580ed8f0d58730193bd22659450bfad1aad20f	A proconvulsant effect of NECA was also detected following intracerebroventricular administration of 2.5 ug NECA, however the same doses of N6-cyclohexyladenosine (@DISEASE$) and 2-chloroadenosine (2 C1-ADO) did not precipitate @PHENOTYPICFEATURE$.	false
+28751aabce851ec602c944ad982053df89da4f06	The rank order of the potency of adenosine agonists in increasing the @PHENOTYPICFEATURE$ threshold was L-PIA greater than 2-ClAdo greater than @DISEASE$ greater than D-PIA, with L-PIA being 79 times more potent than D-PIA.	false
+74ee2bd94f7b250e6cefe50d526461cb228e53d7	The adenosine agonist cyclohexyladenosine (@DISEASE$), administered intraperitoneally at a dose that produced sedation, had no effect on the kindled @PHENOTYPICFEATURE$.	false
+a19219e36dc71d6840e39168746f8e6da6d45a99	The adenosine receptor agonists, 2-chloroadenosine (2-ClAdo), cyclohexyladenosine (@DISEASE$) and L- and D-phenylisopropyladenosine (L- and D-PIA), all produced dose-dependent elevations of the @PHENOTYPICFEATURE$ threshold for pentylenetetrazol in rats.	false
+e71ffc6700341f87941449a4f1a0e7dbd8f0990c	Results obtained showed that in kindled animals, bilateral injection of N(6)-cyclohexyladenosine (@DISEASE$), an adenosine A(1) receptor agonist, at doses of 0.1, 1 and 10 microM into the CA1 region of the hippocampus significantly decreased the afterdischarge duration and stage 5 @PHENOTYPICFEATURE$ duration and increased the latency to stage 4 seizure, but there were no changes in seizure stage.	false
+c0db35453de43e64e205dcc8b949680490b8615f	Results obtained showed that in kindled animals, bilateral injection of N(6)-cyclohexyladenosine (@DISEASE$), an adenosine A(1) receptor agonist, at doses of 0.1, 1 and 10 microM into the CA1 region of the hippocampus significantly decreased the afterdischarge duration and stage 5 seizure duration and increased the latency to stage 4 seizure, but there were no changes in @PHENOTYPICFEATURE$ stage.	false
+ec92a145dbbcf4239de611313569cdff7b865e0c	Results obtained showed that in kindled animals, bilateral injection of N(6)-cyclohexyladenosine (@DISEASE$), an adenosine A(1) receptor agonist, at doses of 0.1, 1 and 10 microM into the CA1 region of the hippocampus significantly decreased the afterdischarge duration and stage 5 seizure duration and increased the latency to stage 4 @PHENOTYPICFEATURE$, but there were no changes in seizure stage.	false
+ef287e9a1371581f297ea401d68028730e8f2833	Bisphosphonates are widely used for the treatment of osteoporosis, @PHENOTYPICFEATURE$, @DISEASE$, and osteolytic disease due to malignant tumor or its metastasis.	false
+3652496430c0098134ae5ca60cf05709498a438b	Bisphosphonates are drugs used to treat osteoclast-mediated bone resorption, including osteoporosis, @DISEASE$, multiple myeloma, cancer-related osteolysis, and malignant @PHENOTYPICFEATURE$.	false
+5069550481ff1fc27cf1a7ee77ffa5bfe9ab4a9d	Studies investigating the use of zoledronic acid in conditions other than postmenopausal osteoporosis, including malignant @PHENOTYPICFEATURE$, multiple myeloma, and @DISEASE$, were excluded.	false
+e0a91900cf4550dd260e8c6c001b7eee02881e65	Bisphosphonates are widely used in the treatment of nonmalignant bone disease like osteoporosis, @DISEASE$ and malignant disease like malignant @PHENOTYPICFEATURE$, osteolytic metastasis from breast and prostate cancer and multiple myeloma.	false
+de7a1543a2b2988b2639af6db887584509470a61	[Usefulness of bone remodelling biochemical markers in the diagnosis and follow-up of @DISEASE$, primary hyperparathyroidism, tumor @PHENOTYPICFEATURE$, and postmenopausal osteoporosis.	false
+1a91812ece2ea63cf7b43dc2a60e05e52bc4efde	@PHENOTYPICFEATURE$ and @DISEASE$: the effect of parathyroid hormone administration.	false
+3bbd135a98141104c23e0581812a2b4822961720	The EIA detected increased Pyd & Dpd concentrations in urine from postmenopausal women and patients with osteoporosis, hyperthyroidism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bce2e161011d615a472d017166d7eb862f01d1db	The bisphosphonates are stable inorganic pyrophosphate analogs that have demonstrated their efficacy in treatment of osteolytic lesions associated with bony metastases, and multiple myeloma, malignant @PHENOTYPICFEATURE$, @DISEASE$, and osteoporosis.	false
+e03b25c176072167c0195fc9ef35f17822bc27dc	Bisphosphonates are widely used to treat osteoporosis, bone complications of cancer, malignant @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c953f9440f60241f9f0528e69ba84905685e0a79	This mechanism also explains their role as the treatment of choice in patients with @DISEASE$ and cancer induced @PHENOTYPICFEATURE$.	false
+e2c350a868be31abfc150810026454f0a55b70de	Additional features not typically associated with @DISEASE$ were diagnosed only later, including skeletal and organ anomalies and mild @PHENOTYPICFEATURE$.	false
+89ad65661e500b3f0baf2f74c09c8eff6e4d9789	An unusual cause of @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+0c51de667419314d035266bcfedee09ab639bd61	We report the case of a 32-year-old woman with @DISEASE$ who presented with @PHENOTYPICFEATURE$, dyspnoea and persistent lung infiltrates despite antibiotic therapy.	false
+1cd82fa2fa9353c6fb4a259e9249af56e992b320	Long-term complications included bronchiectasis in 2 XLA patients, 2 CVID patients and 1 patient with selective immunodeficiency; @PHENOTYPICFEATURE$ in one of each XLA, SCID, and CVID patients respectively; poor school performance in 2 SCID patients and 1 XLA patient; and hemolytic anemia in 1 @DISEASE$ patient.	false
+3e1348b282286791d67fd6a35bc8f315c464fc39	Long-term complications included bronchiectasis in 2 XLA patients, 2 @DISEASE$ patients and 1 patient with selective immunodeficiency; @PHENOTYPICFEATURE$ in one of each XLA, SCID, and CVID patients respectively; poor school performance in 2 SCID patients and 1 XLA patient; and hemolytic anemia in 1 CVID patient.	false
+4e4f7d2146ab0656dcb69c485a5f95f36938d4e5	Long-term complications included bronchiectasis in 2 XLA patients, 2 CVID patients and 1 patient with selective immunodeficiency; @PHENOTYPICFEATURE$ in one of each XLA, SCID, and @DISEASE$ patients respectively; poor school performance in 2 SCID patients and 1 XLA patient; and hemolytic anemia in 1 CVID patient.	false
+b7a3d67fba771e37b1ff10c9198661b41109963b	Lethargy, @PHENOTYPICFEATURE$, and hyponatremia in a patient with @DISEASE$.	false
+ea1072a6a48ff74410a6d1de06fbef9b0d53653f	A 8 year old boy with @PHENOTYPICFEATURE$, low height velocity, mental retardation, cutaneous abnormalities, @DISEASE$ and increased chromosomal instability is described.	false
+49a1698c4b735e56685c362f96a519e3f0fc58d6	A patient in Pennsylvania, USA, with @DISEASE$ sought care for @PHENOTYPICFEATURE$, cough, and abdominal pain.	false
+24b66ffc39735f412851bbaf1042121021e3c331	Secondary outcome measures were the rate of deterioration of function assessed by the modified Norris limb and bulbar scales, manual muscle testing (BMRC), @PHENOTYPICFEATURE$ scale, ventilatory function and the Sickness Impact Profile (SIP @DISEASE$).	false
+7df6d70a5845f7903480ad2d25fb0dcf4bec87ba	results in congenital adrenal hypoplasia (@DISEASE$), whereas NR0B1 duplication in 46,XY individuals leads to @PHENOTYPICFEATURE$ and a female phenotype.	false
+a93d4239545ea270c5d998413f15c4175fd98e88	results in @DISEASE$ (AHC), whereas NR0B1 duplication in 46,XY individuals leads to @PHENOTYPICFEATURE$ and a female phenotype.	false
+aab118532caca26403fc8fc7c5ba5ab8eb7bd793	For this reason we separated protein fractions originating from different @PHENOTYPICFEATURE$ cell lines using 2-D PAGE and we compared the resulting patterns on a multivariate statistical level using correspondence analysis (CA) and ascendant hierarchical clustering (@DISEASE$).	false
+e741150fee380ccadee6578afc92a68a867542a0	Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in @DISEASE$ and hypogonadal @PHENOTYPICFEATURE$ without testicular carcinoma in situ.	false
+25c28fe5eda5d5bd6ac5450ceee8453cb672c2fb	Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in @DISEASE$ and @PHENOTYPICFEATURE$ hypogonadism without testicular carcinoma in situ.	false
+579b9141ec39dc5b1f805cbf0251ac19a5f9bc5a	Genetic analysis of NR0B1 in @DISEASE$ patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and @PHENOTYPICFEATURE$ hypogonadism without testicular carcinoma in situ.	false
+17cd5acf5a700b1b26e4088106be4f70e576576f	Genetic analysis of NR0B1 in @DISEASE$ patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal @PHENOTYPICFEATURE$ without testicular carcinoma in situ.	false
+ecf36cbc0db8dc95fc0ab95f589503258b6ad597	There have been few testicular histology reports of adult patients with @DISEASE$/hypogonadal @PHENOTYPICFEATURE$ (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation.	false
+c79b4769f95efe991861b20c395f8a7167975606	There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/@PHENOTYPICFEATURE$ hypogonadism (@DISEASE$/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation.	false
+6af54dea6d81a8a14a5a98f8fb605b47d2083d9e	There have been few testicular histology reports of adult patients with @DISEASE$/@PHENOTYPICFEATURE$ hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation.	false
+2a1b4fcbf9692851bf5fcbeab01c2e1c0c3a359e	There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal @PHENOTYPICFEATURE$ (@DISEASE$/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation.	false
+5c293955dc387135e2e470a939a65e95680ca4ad	It is distinct from the malignant, relatively more common, alternating hemiplegia of childhood (@DISEASE$), complicated by developmental deterioration, @PHENOTYPICFEATURE$, and permanent neurological deficits such as choreoathetosis.	false
+412b5ef480ce0628b16def59466b6c8228084c95	Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific (Na(+)/K+)-ATPase ?3 isoform cause different neurological diseases, including rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (@DISEASE$) with overlapping symptoms, including hemiplegia, dystonia, ataxia, hyperactivity, epileptic seizures, and @PHENOTYPICFEATURE$.	false
+df7da54bd8b27c793d647407fc914b34ee628fc3	X-linked adrenal hypoplasia congenita (@DISEASE$) is a rare disorder characterized by primary adrenal insufficiency and @PHENOTYPICFEATURE$ hypogonadism.	false
+a99f783d1104e753e84a8f5c62ced70958a4ca0b	X-linked adrenal hypoplasia congenita (@DISEASE$) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic @PHENOTYPICFEATURE$.	false
+db5ae7ed8fe11cb819916a2f226fade68ab4e4ef	Conjunctival hyperaemia was present in all patients, and subconjunctival haemorrhage, superficial punctate keratitis and preauricular @PHENOTYPICFEATURE$ were present in 24.0%, 11.7% and 9.3% of @DISEASE$ cases, respectively.	false
+47617954abfe0312af70e8f89ff65030437ddfa0	This paper discusses the present day understanding about the expression and role in various autoimmune diseases including rheumatoid arthritis, @DISEASE$, polymyositis/dermatomyositis, @PHENOTYPICFEATURE$, scleroderma, type I diabetis, and psoriasis.	false
+d0468caacd0b3072736c7a81e4d2b508c04c55d4	Notably, these neoplasms shared significant associations with 5 ADs (immune thrombocytopenic purpura, polymyositis/dermatomyositis, rheumatoid arthritis, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+9c58047d45ea02271a5281605ffe8f739d0fa061	They further emphasize the difficulty in classifying a patient as primary or secondary @DISEASE$ (ie, sicca symptoms associated with @PHENOTYPICFEATURE$, rheumatoid arthritis, or scleroderma), particularly early in the disease course.	false
+38884be49c5cc61c6441cbfbe7ae621af26c0dd5	The co-occurrence of endometriosis with multiple sclerosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d8f0537e4e346f9374e27bd4a9bc9b9ad57d9b6d	A typical case of @DISEASE$ with hypopigmentation, mental and psychomotor retardation, spasticity, bilateral @PHENOTYPICFEATURE$ and dental defects in a three-year-old boy is presented.	false
+411c339a805f40e98ecc28571ff45c44c010a2b8	In these seven patients, there were nine knees with patellar fragmentation, twelve knees with patella alta, nine with a @PHENOTYPICFEATURE$, five that were painful, and four with changes in the tibial tubercle resembling those found in @DISEASE$.	false
+836e22e4d3350d32aab4ee81b08582a6aa43b825	Benign bone @PHENOTYPICFEATURE$ of tibial tuberosity clinically mimicking @DISEASE$: a case series.	false
+d243e2ccad8a54a7f40f6e9528a16158fe081f9a	Leydig cell @PHENOTYPICFEATURE$ of the testis associated with Klinefelter's syndrome and @DISEASE$.	false
+8d0dc415390004ea4d02ab6b7f708483777e0cd4	Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as hydrocephalus, tuberous sclerosis, Friedreich @PHENOTYPICFEATURE$, mitochondrial encephalo-myopathies, @DISEASE$, convulsive disorders, syncope, central nervous system infections, etc.	false
+8fcb92e4f3abfa06f081230573d637d680036c16	General physical examination revealed features of @DISEASE$, goitre, hypertension, left @PHENOTYPICFEATURE$, and signs of cerebellar dysfunction.	false
+f6a98b3a154b9eb1a00c3eebf474e98efaf5654e	@DISEASE$ unique area postrema lesions: nausea, @PHENOTYPICFEATURE$, and pathogenic implications.	false
+5f487a7fa8a003e106b6967eefbf1f6fa17dcc2f	Progressive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7e43eea2dc6ddd1a69baf116c592a761c5edfb3f	@PHENOTYPICFEATURE$ and cortical degeneration in @DISEASE$.	false
+c29aebf83e5c8fbbf5f471317a365495276e9338	Nausea, @PHENOTYPICFEATURE$, and asymptomatic hyperCKemia should be recognized as rare presenting features of @DISEASE$.	false
+963bc1d5df3dcd71707069bcf30a455523bd6fb6	@PHENOTYPICFEATURE$ and whole brain diffusion in patients with @DISEASE$ after acute relapse.	false
+c0d866e3e8557b35c8a589068b3f949ca7f838cf	We report two cases of @DISEASE$ patients with progressive @PHENOTYPICFEATURE$.	false
+7e07179f377c39e5445ba5176a4eb283c58bce9b	[Area postrema lesion as a cause of intractable nausea, @PHENOTYPICFEATURE$ and hiccups in @DISEASE$ spectrum disorders].	false
+021e2451624befdaa4bb880d5dc83be93fa19898	Clinical analysis of @DISEASE$ presenting as intractable nausea, @PHENOTYPICFEATURE$ and hiccups.	false
+fdb419c3626caa588693125467115913c7606d92	However, severe intrathecal inflammation and massive destruction of neuroglia could cause a secondary progressive clinical course associated with @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+38616e760b476ac5abc4d2c3f2d0ed8a60304228	Intractable hiccup and @PHENOTYPICFEATURE$, neuropathic pruritus and tonic spasms in a case of @DISEASE$ spectrum disorder.	false
+8c8e9fa11974fba00de2ab84df25abed4e5210ad	@PHENOTYPICFEATURE$ and @DISEASE$: two slowly progressive causes of hearing loss treatable through corrective surgery.	false
+6544594b4c27a7ea61273ab86d17ad1f72f597d1	The novel dosage form is stable in vitro (t1/2 4 degree C = 187 days) as well as in vivo and, thus, may be successfully used in the therapy of @DISEASE$, for instance in patients with @PHENOTYPICFEATURE$ or liver disease.	false
+551aa273b55e5251f72022d8aa7fc6de1e6ec185	Men with lifetime CUD were more likely than women to be diagnosed with any psychiatric disorder, any substance use disorder and antisocial @PHENOTYPICFEATURE$, whereas women with @DISEASE$ had more mood and anxiety disorders.	false
+75c69bcb96ef8934b08a44595a6c372aea2f2a71	Men with lifetime @DISEASE$ were more likely than women to be diagnosed with any psychiatric disorder, any substance use disorder and antisocial @PHENOTYPICFEATURE$, whereas women with CUD had more mood and anxiety disorders.	false
+f50605e6e8929b4b9e27d127687b955e76ae19dd	In this study, myocardial function and substrate oxidation in conjunction with @DISEASE$ were investigated in experimental @PHENOTYPICFEATURE$.	false
+219b4c46cf950dc7bf549b76de69d95237b5a1fa	@DISEASE$ has been reported to cause erythropoietin refractory anemia in chronic hemodialysis patients and thrombocytopenia or leukopenia of cirrhosis, and carnitine supplementation can improve hematopoiesis in patients with hepatic or @PHENOTYPICFEATURE$.	false
+28eaa264559c8b87248efb8b9bc896e0974acd9a	@DISEASE$ induced during intermittent haemodialysis for @PHENOTYPICFEATURE$.	false
+9638b7bc4d6da295d6392549962a8f7b47335ba6	Correlations between, on the one hand, age, gender, @PHENOTYPICFEATURE$, history of surgery, antiplatelet and/or anticoagulation treatment, the surgeon's experience, surgery time, repeated lymph node dissection, and surgical indication (cancer, lymphocytic thyroiditis, Graves' disease or @DISEASE$) and, on the other hand, onset of postoperative complications (postoperative hypocalcemia, uni- or bi-lateral lesions of the recurrent laryngeal nerves, and premature compressive hematoma) were assessed.	false
+64bba2c68f9aab316708c3bff8462bd834003ac1	@PHENOTYPICFEATURE$, old age, @DISEASE$ and depression.	false
+0af9a202d26fcb5bcc0b0884dffde7cc975184d1	Prior chemotherapy and the development of @DISEASE$-like rash were associated with @PHENOTYPICFEATURE$ response but not survival.	false
+571729adfefbde6e94b8c7c31220d3bc2e310547	The detection of advanced colonic @PHENOTYPICFEATURE$ (@DISEASE$, cancer or advanced adenoma) was used as the main outcome variable.	false
+5f06f03fcb33934f3abf2f5c8470c195a612e75f	The primary outcome was 3-year sensitivity of an annual FIT versus colonoscopy at 3 years for detecting advanced colorectal @PHENOTYPICFEATURE$ (@DISEASE$) (CRC and/or AA).	false
+5eac599e6eb9c7fcafd10ca027b91b3902434004	To investigate the association between adherence to health recommendations and detection of advanced colorectal @PHENOTYPICFEATURE$ (@DISEASE$) in colorectal cancer (CRC) screening.	false
+75e8ba3c7b58c4da906504ead7c92bffa39b0e85	Acrylonitrile (@DISEASE$) exposure is associated with @PHENOTYPICFEATURE$ in rat brain, Zymbal gland, and mammary gland.	false
+63a94e06115d2ffff083a8b8ab6a1263e441a95b	To define the prevalence and location of presymptomatic advanced colorectal @PHENOTYPICFEATURE$ (@DISEASE$) among white and black persons undergoing screening colonoscopy, controlling for other epidemiologic risk factors.	false
+63c75d9bea5efb812682c108235d1a3826053a15	A unilateral loss of caloric response on the @PHENOTYPICFEATURE$ side was found in 75% of the @DISEASE$ patients with tumours larger than 20 mm, but not in any of the ACN patients with tumours smaller than 10 mm.	false
+5fb313977268792352d1552f4583329bc21cd9f5	A unilateral loss of caloric response on the tumour side was found in 75% of the ACN patients with tumours larger than 20 mm, but not in any of the @DISEASE$ patients with @PHENOTYPICFEATURE$ smaller than 10 mm.	false
+cdf9bd3f19c0a646e2952d4fd3b96422ee29a18f	A unilateral loss of caloric response on the tumour side was found in 75% of the @DISEASE$ patients with @PHENOTYPICFEATURE$ larger than 20 mm, but not in any of the ACN patients with tumours smaller than 10 mm.	false
+a1fb2975c68a70a3d6131bdeed37e29250fece46	A unilateral loss of caloric response on the tumour side was found in 75% of the @DISEASE$ patients with tumours larger than 20 mm, but not in any of the ACN patients with @PHENOTYPICFEATURE$ smaller than 10 mm.	false
+1293448a55680b0fbc51a8edb756b4ca2b25cf66	A unilateral loss of caloric response on the tumour side was found in 75% of the ACN patients with @PHENOTYPICFEATURE$ larger than 20 mm, but not in any of the @DISEASE$ patients with tumours smaller than 10 mm.	false
+ed6990f6d401bdec9f21f09b98b34ff2c43c2d45	A unilateral loss of caloric response on the @PHENOTYPICFEATURE$ side was found in 75% of the ACN patients with tumours larger than 20 mm, but not in any of the @DISEASE$ patients with tumours smaller than 10 mm.	false
+72bbc3ef784a27b1fc5d5982816d8ade7bb9884e	A highly significant linear relationship between @PHENOTYPICFEATURE$ size and caloric side difference was found for the group of @DISEASE$ patients who had normal oculomotor function.	false
+fb2c46fd957c993cb97c72d7a25f742c1af2868a	However, the caloric response on the @PHENOTYPICFEATURE$ side was significantly more impaired in the group of @DISEASE$ patients with OMD than in the o-CPA group.	false
+00f5dfbd9890f504ba0454aeb632a30a52ba511f	This study is aimed at determining the rate of advanced colonic @PHENOTYPICFEATURE$ (@DISEASE$) found by colonoscopy, and hence the need for routine colonoscopy after CT-diagnosed acute diverticulitis.	false
+faac58b1a8837f893a0cc409fc935777c7572155	In those patients, airway compromise may be related to @DISEASE$ cervical @PHENOTYPICFEATURE$ or hematoma.	false
+a0dac0719cd8f1e6ab541c5775ea4ec7ab958413	We present a case with Vogt-Koyanagi-@DISEASE$ with @PHENOTYPICFEATURE$, and describe its clinics aspects, and the diagnosis and therapeutics methods we used.	false
+68f37b4b2c6f139a77235776a0ec68f62d61050e	Five months later, the patient presented with complete criteria of @DISEASE$ including a 2?weeks history of @PHENOTYPICFEATURE$, alopecia, poliosis and vitiligo.	false
+22fb00b8aa05c823b41aa2456c884aaf30c8c09f	@DISEASE$ is an autoimmune disease against the melanocytes and involving tissues containing melanocytes such as uvea, meningea, skin and inner ear, etc.. Neurological complications except for meningitis and perceptive @PHENOTYPICFEATURE$ have been rarely reported in Japan.	false
+944d2b07337f0e63daa76165eff83117ee5b94d0	Here, we report a patient with wide spread uveal melanoma who had an exceptional response to treatment with ipilimumab and nivolumab, but suffered severe immune-related sequelae, including central serous retinopathy with retinal detachment, @PHENOTYPICFEATURE$, and vitiligo resembling @DISEASE$, and refractory enteritis.	false
+f494e8f48412e23de2095a42aa6d72866daf7169	In @DISEASE$, inflammatory disorders occur in multiple organs containing melanocytes, including uvea (resulting in acute bilateral panuveitis), skin (resulting in vitiligo and alopecia), central nervous system (resulting in meningitis) and inner ears (resulting in hearing loss and @PHENOTYPICFEATURE$).	false
+4832278e1aed61584b39dde2a8eccbbe5421f5c6	A case of uveitis with @PHENOTYPICFEATURE$; the @DISEASE$.	false
+ce321a7c2f0b3341f1a11188c3fe44f9626ba936	[On the causal genesis of the @DISEASE$ (non-traumatic uveitis and @PHENOTYPICFEATURE$)].	false
+c48b5fbc79e4bfd7dfd5953f01c1dd2c1a14e3c8	[Case of Ekman-Lobstein-@DISEASE$ with bilateral @PHENOTYPICFEATURE$ and right-sided thrombosis of the central retinal vein].	false
+70e8829b235bd0f2761793c50b742890cb411ba1	The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative @DISEASE$ in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and @PHENOTYPICFEATURE$.	false
+1e33dc70904fa4f5ff6dd3e318196266af78a0b2	Angioedema @DISEASE$ in patients with hypertension or @PHENOTYPICFEATURE$.	false
+5e5873121ce620e6cdc8ff89afb656411ed00298	Approximately 70% of infant deaths attributable to @PHENOTYPICFEATURE$ @DISEASE$ neonatally (age <28 days).	false
+1ec6c3a26b67a2f8bbca86e25167c866f8967001	Osteomas @DISEASE$ throughout the temporal bone and, depending on their location, may cause @PHENOTYPICFEATURE$, hearing loss, vertigo, and facial nerve paresis.	false
+db74ca2b5371a7e84601092bb5834c4f308c0303	In a cohort of healthy female subjects with a wide range of BMIs, ventricular hypertrophy occurs without associated cavity dilatation in overweight individuals, while in manifest @PHENOTYPICFEATURE$, both cavity dilatation and ventricular hypertrophy @DISEASE$.	false
+02ccac98be0997960f25c74f52f686bf1c0324c8	In a cohort of healthy female subjects with a wide range of BMIs, ventricular hypertrophy @DISEASE$ without associated cavity dilatation in overweight individuals, while in manifest @PHENOTYPICFEATURE$, both cavity dilatation and ventricular hypertrophy occur.	false
+d4d9ee3559d259b235b4b9c8cea7fb800bebba57	Hypocalcemia @DISEASE$ during endotoxemia in dogs and is associated with hypovitaminosis D. @PHENOTYPICFEATURE$, hypoparathyroidism, alkalosis, and increased calciuresis are not associated with hypocalcemia in endotoxemic dogs.	false
+a85118ea922b28aeb5abcedc826a81fcb88ff145	Hyperoxaluria @DISEASE$ in most patients after the conventional jejunoileal bypass procedure for @PHENOTYPICFEATURE$.	false
+0e639cc06ee2539c6763d211198231b95aa9f0c8	Patients present with ventricular arrhythmias or @PHENOTYPICFEATURE$, and sometimes sudden cardiac death @DISEASE$.	false
+b219c9656cbb92093f069a469b050de8f0361d86	Late neonatal @PHENOTYPICFEATURE$ @DISEASE$, with malabsorption of magnesium (Mg), increased exogenous phosphate loading, after alkali therapy of diarrheal acidosis, hypoparathyroidism, and vitamin D related disorders.	false
+db1003c75180683585b2db6e47bfe9cf493a8512	Hypoxia @DISEASE$ in white adipose tissue in @PHENOTYPICFEATURE$, modulating the expression and release of specific inflammation-related adipokines.	false
+e2321da5c6801e0236c2e0b9127f9bdfa7ccb43a	Pericardial pressure is equalized with that of cardiac cavities and severe @PHENOTYPICFEATURE$ @DISEASE$, most often rapidly.	false
+b34f346067219fcb4f3cbf15346924348f4d5b1c	Coinheritance of either neonatal severe @PHENOTYPICFEATURE$ or @DISEASE$ and alkaptonuria provided a candidate location for the mutated genes on chromosome 3. Homozygosity mapping with polymorphic loci identified a 16 centiMorgan region on chromosome 3q2 that contains the alkaptonuria gene.	false
+488abe17000054978b0521a7855f8779f67be5af	@DISEASE$ (WFS), a rare neurodegenerative disorder, is characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+82f4bc677f0196d04e6b56c3ffb425d793a4a0e5	Wolfram syndrome (@DISEASE$), a rare neurodegenerative disorder, is characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+298f40515b10bd8877d3d261985b39c0ed58905b	@DISEASE$ is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness).Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple @PHENOTYPICFEATURE$ early in the fourth decade.This study reports two siblings with late diagnosed wolfram syndrome with diabetes insipidus, diabetes mellitus, optic atrophy, deafness and severe urological abnormalities.In conclusion, cases having early onset insulin-dependent diabetes mellitus and optic atrophy together need to be evaluated with respect to Wolfram.	false
+6b235315e22541239b9ad76aa3b6011f681344e7	Wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness).Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple @PHENOTYPICFEATURE$ early in the fourth decade.This study reports two siblings with late diagnosed @DISEASE$ with diabetes insipidus, diabetes mellitus, optic atrophy, deafness and severe urological abnormalities.In conclusion, cases having early onset insulin-dependent diabetes mellitus and optic atrophy together need to be evaluated with respect to Wolfram.	false
+580f4448e98e3cffa61bd24433adc3f8d0a227b5	Wolfram syndrome(@DISEASE$, DIDMOAD syndrome) is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset, insulin-dependent diabetes mellitus and optic atrophy, often accompanied by other symptoms including diabetes insipidus, neurosensory deafness, urinary tract and @PHENOTYPICFEATURE$.	false
+821e79d1d93e7b7cd7e0ed2e412f8c4bf9920112	Wolfram syndrome(WFS, @DISEASE$) is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset, insulin-dependent diabetes mellitus and optic atrophy, often accompanied by other symptoms including diabetes insipidus, neurosensory deafness, urinary tract and @PHENOTYPICFEATURE$.	false
+c0472b41de9fab8a7cfed3e3540c73e0e70a0b6d	@DISEASE$(WFS, DIDMOAD syndrome) is an autosomal recessive neurodegenerative disorder characterized by juvenile-onset, insulin-dependent diabetes mellitus and optic atrophy, often accompanied by other symptoms including diabetes insipidus, neurosensory deafness, urinary tract and @PHENOTYPICFEATURE$.	false
+093c9bd9174ad1b57d87211aab0412234648d124	Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and @PHENOTYPICFEATURE$, Wolfram syndrome (@DISEASE$) is also associated with atypical brainstem and cerebellar findings in the first decade of life.	false
+5623821caaeb9d77203b674cf3ea8311b108849b	Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and @PHENOTYPICFEATURE$, @DISEASE$ (WFS) is also associated with atypical brainstem and cerebellar findings in the first decade of life.	false
+db967dfa1b76d2c97fb98694ca49b7d7d0aa59e8	We present two unrelated patients with @DISEASE$, both of whom had the four cardinal features and several other @PHENOTYPICFEATURE$.	false
+03f6dec81599bfd5055ccc5c47ec9fccbc3d0b52	@DISEASE$ (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and @PHENOTYPICFEATURE$, and primary gonadal atrophy.	false
+510e1d8534bcb78a8909be9fa941cf696e81f3ec	@PHENOTYPICFEATURE$ in children with gelastic seizures and @DISEASE$.	false
+7745fa409a7fb0471857f5f353f57cb2b2072df4	A familial syndrome of @DISEASE$, @PHENOTYPICFEATURE$, and SMO mutations: a clinical report of 2 cases.	false
+1010978627cb500af32850a1071e228acccd27d5	Asymptomatic large @DISEASE$ associated with @PHENOTYPICFEATURE$ in an adult.	false
+b124cb22110c6d12a9750736b1c85f3d647bf475	This report describes an asymptomatic adult with a large @DISEASE$ associated with @PHENOTYPICFEATURE$ in his feet.	false
+c8b6d62755be5946bfa69e85486c4c07e72cd084	The phenotypic features of the syndrome include @DISEASE$, @PHENOTYPICFEATURE$, imperforate anus, laryngeal clefting, and other anomalies.	false
+b57ac8cf7a1b2b7cc326eb21b5011ec7a18f0860	@DISEASE$ with gelastic epilepsy, precocious puberty and @PHENOTYPICFEATURE$.	false
+0309da8331ab60f9c690896bae57dda28007f004	PHS was first described as a lethal condition associating @DISEASE$, postaxial or central polydactyly, @PHENOTYPICFEATURE$ and bifid epiglottis.	false
+1a3509573a950dbf583be10e2ab1944765afe79d	Teaching NeuroImages: @DISEASE$ and @PHENOTYPICFEATURE$: Think Pallister-Hall syndrome.	false
+a10261595ad095c7ef657aa0300fc2191fb370be	Current diagnostic criteria include presence of @DISEASE$, post axial @PHENOTYPICFEATURE$ and positive family history, but the disease has variable manifestations.	false
+f13a3d8b7a0b895659ce500bff10b76a2a706761	The association between @DISEASE$ and other dysplasias, including @PHENOTYPICFEATURE$, is known to be a neonatal lethal syndrome.	false
+2624156685bd3a031d3fd8ed52ee6ea8f76d2790	The system of congenic strains of the laboratory rat carrying the mutant allele lx which is determining the @PHENOTYPICFEATURE$-luxate syndrome (@DISEASE$) was used for testing teratogenicity of six compounds from different pharmacological groups (cyclophosphamide, cyadox, carbadox, imipramine, verapamil, TIA).	false
+63cfe5429ca6c7fe8ee37dcd7e72dde936847280	K-means clustering using the 25 patients with complete datasets suggested that patients with @DISEASE$ can be classified into 2 groups based on clinical variables, namely @PHENOTYPICFEATURE$, objective bulbar signs, and urinary urgency.	false
+fa90f07df67597028de7372f70649d2bb304e365	Genetically controlled morphological variability of the @PHENOTYPICFEATURE$-luxate syndrome (@DISEASE$) of the Norway rat.	false
+d30b26c8c7af6fafc0fe4c9297df68a82f704ae8	Morphometric analysis of malformation manifestations of the mutant allele of the @PHENOTYPICFEATURE$-luxation syndrome (@DISEASE$) in the homozygous and heterozygous state.	false
+c2c7a98f7b4ae7d0ac13d5211ff1e5cab5dc7fd2	Ten PLS patients had abnormal scores in at least one neuropsychological test (@DISEASE$ with @PHENOTYPICFEATURE$, PLS-cd).	false
+e12c531ddaddac9d9c6001ad80eb1a47fc14c7d3	Ten @DISEASE$ patients had abnormal scores in at least one neuropsychological test (PLS with @PHENOTYPICFEATURE$, PLS-cd).	false
+909a626dcee48c00b29473804d8ec33156fdc9cc	Extensive studies point to the link between malignant lymphoma development and autoimmune or inflammatory diseases--@DISEASE$ rheumatoid arthritis, Sj?rgen's syndrome, coeliac disease, @PHENOTYPICFEATURE$ or thyroiditis.	false
+3f30aac8e58e0f02218c6b159ed2df9dbf75df02	@PHENOTYPICFEATURE$ represent a major clinical burden in patients affected by the lysosomal storage disorder @DISEASE$ (MPSII, OMIM #309900).	false
+86bc0b34e0abd969b0b8ec4b3cca77735fde30a7	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+e2d5b0dac5fc2e22ef41dc11d2410e830a2291fe	@DISEASE$ (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and @PHENOTYPICFEATURE$, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase).	false
+3d002eefb076ed4174303e96a7422b209b661544	@DISEASE$ (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to @PHENOTYPICFEATURE$ as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea.	false
+2e76cd505dac60ba12ec5c5a13fa600f7ba93b28	During treatment, 1 patient was diagnosed with @DISEASE$ and 2 patients developed bilateral @PHENOTYPICFEATURE$ of the femoral head.	false
+8c6d9fac017607d543f82632da6236245151995b	A 46-year-old woman with @DISEASE$ who underwent nonmyeloablative allogeneic stem cell transplantation developed cortical blindness, @PHENOTYPICFEATURE$, and left hemiparesis on day 100 while receiving tacrolimus (FK506) and prednisone for the treatment of graft-versus-host disease (GVHD).	false
+f86ea3ad387e8cee526a489c6c0bf2aa215df627	A 9-year-old boy receiving chemotherapy for @DISEASE$, developed headache, temporal lobe @PHENOTYPICFEATURE$, anxiety, hallucinations, short-term memory loss and autonomic disturbances.	false
+762b0d8c80ccf66359198c78de539d9e05276549	Nivolumab as salvage treatment in a patient with HIV-related relapsed/refractory @DISEASE$ and liver failure with @PHENOTYPICFEATURE$.	false
+2ca601d539ffc60b54f8459c3d4d092fa7e9b482	[Treatment of phobia of medical equipment in a @PHENOTYPICFEATURE$ patient with @DISEASE$].	false
+a084db266ce95958343ec215275671fd9d94a653	We present the case of an adolescent with refractory @DISEASE$ treated with nivolumab, a PD1 inhibitor, who developed Hashimoto thyroiditis, posterior reversible encephalopathy syndrome causing seizures, as well as urinary retention, truncal/appendicular @PHENOTYPICFEATURE$, dysphagia, and a progressive encephalopathy that was clinically consistent with a diagnosis of progressive encephalopathy with rigidity and myoclonus, a stiff-person-syndrome spectrum disorder.	false
+251d291eccf5a738dda4c89a48feb7f2cd077cc7	We present the case of an adolescent with refractory @DISEASE$ treated with nivolumab, a PD1 inhibitor, who developed Hashimoto thyroiditis, posterior reversible encephalopathy syndrome causing @PHENOTYPICFEATURE$, as well as urinary retention, truncal/appendicular spasticity, dysphagia, and a progressive encephalopathy that was clinically consistent with a diagnosis of progressive encephalopathy with rigidity and myoclonus, a stiff-person-syndrome spectrum disorder.	false
+f19e4bdd9371ab67f8a94ff6628de2813ef5a191	The Authors describe a case of generalised heterotopic ossification (HO) complicating the course of a 31 years old male patient, with a history of @DISEASE$ and a of long staying in an intensive care unit, where he had been placed on artificial @PHENOTYPICFEATURE$.	false
+70de68d95f99f7284d67653becc9d37109df9f6b	Actinomycotic bowel and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+128c39dcebb311c9e7ab94801b2148278c69e7ff	A 26-year-old woman with @DISEASE$ had recurrent episodes of @PHENOTYPICFEATURE$ caused by Salmonella enteritidis serotype poona, which responded well to antimicrobial therapy.	false
+fa93df55f1892b8c7daa538fb5c7396c099f87d5	Patient 3, born in 1990, has VSD, right embryo-toxon, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+41bb47eb6672306d8c4d29ab8b7cbccb2a3793a7	All patients have an abnormal palatine structure (cleft palate, @DISEASE$) and elevated serum transaminases, 4/7 have @PHENOTYPICFEATURE$ (<-2 SDS) and one was diagnosed with growth hormone deficiency.	false
+03044698ffcc6e49798ea8bff1ee6af34ce810d5	He presented with @PHENOTYPICFEATURE$, psychomotor retardation, microcephaly, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, @DISEASE$, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1.	false
+049282b21f493d82f3a7a7f95600f57de66dedfb	One also had mental retardation, an @PHENOTYPICFEATURE$, cleft palate with @DISEASE$, and gingival hyperplasia.	false
+4af97a2e6f555aeea61d0c889fb96577b4482cf1	The proband is of above average intelligence, but he has hydrocephalus, a @DISEASE$, premature puberty, @PHENOTYPICFEATURE$, and small testes.	false
+af7843f7882de7e6ae7f06199fc43f2bb9a9fee1	Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+be8dffd0f85f48180f9c7573cebdd1a0ff9a359b	He also had developmental delay, cardiovascular malformation, growth failure with microcephaly, @PHENOTYPICFEATURE$, and underweight, sensorineural hearing loss, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, @DISEASE$, single palmer creases, and distinctive facial features including straight eyebrows, ptosis, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate.	false
+fe310523ef172a42a59fb27fd361e4700bcacf10	He also had developmental delay, @PHENOTYPICFEATURE$, growth failure with microcephaly, short stature, and underweight, sensorineural hearing loss, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, @DISEASE$, single palmer creases, and distinctive facial features including straight eyebrows, ptosis, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate.	false
+f992143f81f7d0e6c2fd614c3bf5d1f8d2a91a4c	It is characterized by orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, @PHENOTYPICFEATURE$, cleft or @DISEASE$, syngnathia, narrow high arched palate, ankyloglossia and hyper nasal voice.	false
+8bdc0375326aa034ce02c5743593fece7280775e	It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, @PHENOTYPICFEATURE$, cleft or @DISEASE$, ankyloglossia and some extraoral anomalies involving hand, foot and genitalia.	false
+284a2a78c05d3279b6dce3316d8d9831e90178a3	Orofacial manifestations of Van der Woude syndrome (VWS) include cleft lip or palate, lower lip pits, @PHENOTYPICFEATURE$, hypernasal voice, cleft or @DISEASE$, syngnathia, narrow high arched palate, and ankyloglossia.	false
+9e40b8c3c5d5921e6d7623f8c6dd27d8a6da22e6	In each of the 16 patients included in our first study [6 idiopathic Raynaud's phenomenon (I), 4 associated with @PHENOTYPICFEATURE$ (SLE) and 6 with progressive systemic sclerosis (@DISEASE$)] digital vasospasm could be reproduced by immersion of both hands in cold water (4 degree C).	false
+337aa9f2b5ae999a5d13bde1c5211aaa20860268	@PHENOTYPICFEATURE$-mild or dementia-exists in patients with @DISEASE$.	false
+e98d30723d00ef4b1069f90ded9d26cb35f00a6f	In patients with @DISEASE$ and interstitial @PHENOTYPICFEATURE$, the overall extent of disease and extents of honeycombing and ground-glass opacity increase significantly on follow-up CT.	false
+fb7c742738c5a696558c63d73abc0fe9a4208f28	In this exploratory study, frontal region WM microstructure alterations accompanied cognitive symptoms and were associated with mild @PHENOTYPICFEATURE$ in @DISEASE$.	false
+14164785395c0fa956f3094c69d20d1a2081f082	The study included 40 patients with symptoms or signs of @DISEASE$ and interstitial @PHENOTYPICFEATURE$, who underwent serial high-resolution CT scans (mean follow-up period 39 months).	false
+1905cbcf2ca7bbea2d94097a3913fa110430506d	The patient developed hypotonia, hearing loss, mental retardation, @PHENOTYPICFEATURE$, cataracta, hypoparathyroidism, DeToni-Fanconi-Debr? syndrome and @DISEASE$.	false
+2c46b08393ddd5bda297e516f56e2bf96d01cc2e	The defective feeding response to fasting in @DISEASE$ JVS mice is due to the defective acyl-ghrelin and enhanced CRF signaling in the hypothalamus through fatty acid @PHENOTYPICFEATURE$.	false
+362306322e6e5b43a0e2b5feb320568a7f6ac19a	@DISEASE$ was suspected in study participants prior to data collection because of previously reported cardiac symptoms, muscle weakness, hypometabolism and/or @PHENOTYPICFEATURE$.	false
+bf8b82687f22f1cc5333e3954846632255b67777	@DISEASE$ juvenile visceral steatosis (JVS) mice, suffering from fatty acid @PHENOTYPICFEATURE$, have reduced locomotor activity after fasting.	false
+a9990ff62f206c58e1a85cb7217cd6bf14e84f8d	With extensive workup she was diagnosed with @DISEASE$ with progressive headaches, @PHENOTYPICFEATURE$ with papilledema, and repeated elevated lumbar puncture opening pressures despite treatment with acetazolamide and immunosuppressive therapy.	false
+7700d931a600fe410782e5b824dca7dfc35faddf	@DISEASE$ (RS), a neurodevelopmental disorder of unknown etiology occurring almost exclusively in females, is characterized by autistic-like behavior, motor dysfunction, loss of language skills, dementia, and @PHENOTYPICFEATURE$.	false
+2893bd8ffa4e8a8f0749dadeea2f9d1320d2398a	Syndrome of @PHENOTYPICFEATURE$, mental retardation, and tracheoesophageal fistula associated with features of @DISEASE$.	false
+ec2c168581f25dccff4bcacf479ddd7d9a663f0e	The patient was not affected with @PHENOTYPICFEATURE$ or hyperventilation, but had other features of @DISEASE$ including severe mental retardation and symptoms of autistic disorder.	false
+fe3530ba86f09f62457c4cd858e3d657a3b612e0	Later on recurrent washing movements of the hands, hyperventilation and @PHENOTYPICFEATURE$ were observed and the diagnosis of @DISEASE$ was established.	false
+6272cc3d22568bb97227e242c99ce0c949bd7683	Fetal alcohol syndrome in association with @DISEASE$: We report on a girl with neonatal dystrophy, @PHENOTYPICFEATURE$, heart defect, and the characteristic features of alcohol embryopathy.	false
+8acaaf1d0b1e9193686994362489e66ae97e11b3	Most patients with @DISEASE$ (RTT) have both gastrointestinal problems and somatic growth failure, including @PHENOTYPICFEATURE$.	false
+dbf0727bb6b54ce147ad7ffef3cee6d88f0aeeb5	@DISEASE$ (RTT) is a mostly sporadic disorder of developmental regression, with loss of speech and purposeful hand use, @PHENOTYPICFEATURE$ and seizures.	false
+6aefe67ece474b8fe62770fa4395aca69845588a	This article describes idiopathic edema, alias fluid @DISEASE$, cyclical edema, or orthostatic @PHENOTYPICFEATURE$.	false
+b16ee37a238c805c230bb280cda6f74bbcccd8aa	This article describes idiopathic @PHENOTYPICFEATURE$, alias fluid @DISEASE$, cyclical edema, or orthostatic edema.	false
+af6130aa15a859d95c2db3814533d6e253d1f6c6	This article describes idiopathic edema, alias fluid @DISEASE$, cyclical @PHENOTYPICFEATURE$, or orthostatic edema.	false
+aeeda07810dcf958de573e4be4a4ab43705a4482	@DISEASE$ (RTT) is a severe neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$, psychomotor regression, seizures and stereotypical hand movements.	false
+33223ee616713bad6e9766db9fa6fd7e2fcee475	These findings suggest that MeCP2 is essential to non-neuronal cell growth during brain development, which may be associated with @PHENOTYPICFEATURE$ of @DISEASE$ patients with MeCP2 mutations.	false
+e5e7268dc3be5399de6441c7f2ff61098d04a193	In view of the known role played by the PTH/PTHrP receptor in bone and cartilage development, these results strongly support the conclusion that the absence of functional PTH/ PTHrP receptors is responsible for the @PHENOTYPICFEATURE$ seen in @DISEASE$, abnormalities that are the mirror image of those observed in Jansen's chondrodysplasia.	false
+a3598d82fb12a938e746d25bec1dacaedac16453	We report a family carrying a @DISEASE$ caused by a de novo @PHENOTYPICFEATURE$.	false
+d962e9b0ca15c953de8ef4898ee1da962512377e	To evaluate subclinical endothelial inflammation markers, like Metalloproteinase 9 (MMP-9) and ultrasensitive C reactive protein (usPCR), before and after glucocorticoid treatment in family members with @DISEASE$ caused by a de novo @PHENOTYPICFEATURE$.	false
+5fe6fd6925877540e50c67704fa8a4b3ec034237	Downregulation is seen during immobilization, K+ deficiency, hypoxia, @PHENOTYPICFEATURE$, hypothyroidism, starvation, diabetes, alcoholism, myotonic dystrophy, and @DISEASE$.	false
+d923c2ec13d408fba04929f846bd7b1f2ba07604	Paroxysmal Dysarthria Ataxia-Tremor-@DISEASE$ Syndrome in Bickerstaff Brainstem Encephalitis: A Variant of Paroxysmal @PHENOTYPICFEATURE$ Ataxia Syndrome.	false
+76039bd9c347ccaea9363396b14aae9a29c01be9	Riga-@DISEASE$ disease: association with @PHENOTYPICFEATURE$.	false
+b5b0bb13140eb656832def475c59de123d512830	A case of @PHENOTYPICFEATURE$ associated with traumatic ulceration to the ventral surface of the tongue (Riga-@DISEASE$ disease) in a 12-month-old female is presented.	false
+d7397e57ad12e17f53d34aa1e5b89aca9188151e	Nonalcoholic steatogepatite is an independent disease, which should be remembered in differential diagnosis in patients with sustained ALAT and @DISEASE$ improvement in serum especially in presence of @PHENOTYPICFEATURE$, diabetes, hyperlipidaemia.	false
+a65f2f69e3497b438fabd5b16c0ca503813be779	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+fd1cc63786f2df92a89eaa6b40fcf799db552e05	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ heterogeneous in clinical appearance.	false
+a269b5b2a08db2b27742618576fd580d29a1bec4	The ectodermal dysfunction expresses itself with conoid teeth, enamel hypoplasia, @DISEASE$ and especially @PHENOTYPICFEATURE$, with following functional and aesthetic defects.	false
+f7208d46cc754446a4299b662ef97262dfb8b5e6	Patients with CS may present oral defects, such as cleft soft palate, @PHENOTYPICFEATURE$, hyperdontia, and delayed tooth eruption, but also unusual associations of major dental anomalies such as taurodontism, microdontia, multiple dens invaginatus, and @DISEASE$.	false
+2a7e1306879ead831da34aaf45a5adec685e3799	The @DISEASE$ is a rare autosomal dominant syndrome that involves optic nerve colobomas and @PHENOTYPICFEATURE$.	false
+05cb13be2e299f8eaea8db7c7dc8ecf388040372	Gene mutations that have dominant inheritance and cause RHD, @PHENOTYPICFEATURE$, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (@DISEASE$), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome).	false
+eb8ce269ca92fd216415d6ca51206ca540aed1a9	Although @DISEASE$ involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or @PHENOTYPICFEATURE$, consistent with the expression of PAX2 in these tissues during development.	false
+3fb4ead8b212dc01e88722f3d2c9287679686a7e	Although @DISEASE$ involves both ocular and @PHENOTYPICFEATURE$, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development.	false
+2270bbbe0c117ba64bd3fb478de960e58c8f2dc6	The @DISEASE$ is an autosomal dominant human disease, secondary to mutation of the PAX2 transcription factor, characterized by optic nerve coloboma, @PHENOTYPICFEATURE$ and vesicoureteral reflux.	false
+be09d0f04d2882e02156cf072bd7d40e54ca880b	@DISEASE$ (RCS) is characterized by @PHENOTYPICFEATURE$ and optic nerve colobomas.	false
+6080339c3a1404c301ca49a70b9cda0d153af618	The genetic bases of most forms of uveoretinal coloboma are elusive; mutations in PAX2 are found in only a few cases of coloboma of the retina and optic nerve that occur with @PHENOTYPICFEATURE$ as part of the @DISEASE$ (MIM#120330; #167409).	false
+00aeb4a20b2290c1b2ec7ca3a5bc806c2d0995fa	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, @DISEASE$, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+b10da3b67d3e052e2764e719a2bc5a3d0d7a5866	These disorders are seen primarily in males, who manifest the phenotypic effects of the deletion of the loci of various combinations of adjacent genes: Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal hypoplasia, optic @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism and anosmia (@DISEASE$), chondrodysplasia punctata and ichthyosis.	false
+966b44fb6c94e0ece7ad759017d893e4a965b531	@DISEASE$ is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-@PHENOTYPICFEATURE$, and broad and deviated thumbs and great toes.	false
+3e088678892d83a243cb85b0c5091e3120a6c396	Persistent airway obstruction symptoms in a 2?-year-old boy with @DISEASE$ were attributed to @PHENOTYPICFEATURE$, central and obstructive sleep apnea, and tracheomalacia from a vascular ring.	false
+f73b638a27e2fce5072a7c30b4b7b3d290e7a9c8	@DISEASE$ mimicking ischaemic @PHENOTYPICFEATURE$ and pulmonary embolism.	false
+a3fceaef78146f0ccfe4611a19bf36c40452db6b	Screening suspected @DISEASE$ heart disease involvement is important to characterize patients with a relatively high risk of clinical cardiac abnormalities such as complete atrioventricular block, @PHENOTYPICFEATURE$, congestive heart failure, and sudden death.	false
+2388e1454c90678233e03ed0abb55d9938b5a5b1	Late gadolinium enhancement identified with cardiac magnetic resonance imaging in @DISEASE$ patients is associated with long-term @PHENOTYPICFEATURE$ and sudden cardiac death.	false
+459a4891ac4fa924edaa130aec0d8f5a6f788af5	The @DISEASE$ (CLS) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, @PHENOTYPICFEATURE$, digit abnormalities and progressive skeletal deformations.	false
+4caf00a65f403e86d0875965ad6890b724a27638	The Coffin-Lowry syndrome (@DISEASE$) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, @PHENOTYPICFEATURE$, digit abnormalities and progressive skeletal deformations.	false
+26c9f1a77f06fdb51b882c2034a79ddc863d05ce	In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing @PHENOTYPICFEATURE$ in humans and mice known as @DISEASE$.	false
+ea2f1a03bea027e4a4a22e96daba76c6b5e020cd	Coffin-Lowry syndrome (@DISEASE$) is an X-linked disorder characterized by @PHENOTYPICFEATURE$, digit abnormalities and severe psychomotor retardation.	false
+02a82164da0cee04cdb4bb4cb40467f5454b1d00	@DISEASE$ (CLS) is an X-linked disorder characterized by @PHENOTYPICFEATURE$, digit abnormalities and severe psychomotor retardation.	false
+f1a1428308f655ed95ee1492828574432fe61f0f	Cenani-Lenz syndrome (@DISEASE$) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and @PHENOTYPICFEATURE$.	false
+a3e43cd2317620ac9c8f4353fc59d93046848991	Coffin-Lowry syndrome (@DISEASE$) is a rare disorder characterized by moderate to severe mental retardation, @PHENOTYPICFEATURE$, tapering digits, and skeletal deformity.	false
+7e2e0bb80014df784dea555a5eabdb1c5b872ed0	@DISEASE$ (CLS) is a rare disorder characterized by moderate to severe mental retardation, @PHENOTYPICFEATURE$, tapering digits, and skeletal deformity.	false
+02808af39a0ec9475740328c6d152907f21d0214	The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the @DISEASE$ (MIM 303600) characterized by severe mental retardation, @PHENOTYPICFEATURE$ and progressive skeletal malformations.	false
+5edc12cf639c503b3da2fd2d17c25b879e577da7	@DISEASE$ (CLS) is a rare inherited disease with specific clinical features, such as mental retardation, @PHENOTYPICFEATURE$, and cardiac abnormality.	false
+25c064569e3989682a22837b23946fc58b20acde	Coffin-Lowry syndrome (@DISEASE$) is a rare inherited disease with specific clinical features, such as mental retardation, @PHENOTYPICFEATURE$, and cardiac abnormality.	false
+0bc1856edff2e40760eedda51fc56c6bd6c31c9b	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, @PHENOTYPICFEATURE$, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and @DISEASE$.	false
+66cba3fd06e7ec17ceefc03bbc63c24b948552e4	Digital photographic analysis may allow clinicians to determine the @DISEASE$ of @PHENOTYPICFEATURE$ more accurately than echography.	false
+2c721b8676954ad2b1e7cfb3cd9f04062f2d3833	Metabolic liver diseases (@DISEASE$) are an important group of disorders presenting with neonatal @PHENOTYPICFEATURE$ (NC).	false
+d75710cbd5354b631cb9520f843b3cc740e13c8a	In a multivariate analysis, the total @PHENOTYPICFEATURE$ dose and @DISEASE$ were not associated with reductions of PFTs.	false
+e716e3a2d943d210eca367ad6ad077c4c6fc1432	Changes of PFTs were evaluated in relation to tumor dose, @DISEASE$, MpLD, @PHENOTYPICFEATURE$ regression, and parameters related to perfusion changes.	false
+3934a799493c5ceec74ee6937dcb67f945a00507	Changes of PFTs were evaluated in relation to @PHENOTYPICFEATURE$ dose, @DISEASE$, MpLD, tumor regression, and parameters related to perfusion changes.	false
+ac806db1d3c881393da0f4a1e3a9e4e6f0e73e60	These images can be used to measure @PHENOTYPICFEATURE$ maximal linear dimension (@DISEASE$).	false
+ede4ff9c4a232ad7bb7ab111cf3332ede2518042	Plans designed using the SA often lead to lower maximum achievable @PHENOTYPICFEATURE$ doses due to higher @DISEASE$ values.	false
+a5a2e7ad433faf537cdf498a7451cb04f3350873	High @DISEASE$ at @PHENOTYPICFEATURE$ borders is associated with metastasis.	false
+ee050e69d8a24699ebf9573629db920640b6c100	Data about the impact of peripheral neuropathy in @DISEASE$ patients are currently lacking, although in our experience peripheral neuropathy causes significant morbidity due to neuropathic pain, foot deformities and @PHENOTYPICFEATURE$ disturbances.	false
+91134213237a39ad10ad171249c68f4283cbddae	Significant differences of @DISEASE$ existed between those of @PHENOTYPICFEATURE$ region (39 ? 19) and tumor margin (53 ? 26, P < 0.01).	false
+0481da69c027b4731c4aaa38c9bf325f462a3926	Significant differences of @DISEASE$ existed between those of tumor region (39 ? 19) and @PHENOTYPICFEATURE$ margin (53 ? 26, P < 0.01).	false
+39ecc96363e86687d115acdf653ebfe8b7253544	Experimentally, we have observed high @DISEASE$ within PC-14 @PHENOTYPICFEATURE$ and its tendency toward lymph node metastasis.	false
+b78c1a833248d289258139a7873897e94cdfaed5	In PSVT patients, 75% of months were @PHENOTYPICFEATURE$ free; in @DISEASE$ patients, 64% of months were attack free.	false
+f53f3f371e54b16d94b4a6837ece4b904637c720	The first mutation in a gene associated with a @PHENOTYPICFEATURE$ was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and @DISEASE$.	false
+54efdf051933cc9189045838bdfa23cb10803227	The major functional sequelae were dental lost (17/24), @PHENOTYPICFEATURE$ of the trigeminal nerve (15/24), partial or complete loss of vision (10/24), pain (10/24), hypo- or @DISEASE$ (9/24), stenosis of the lacrimal ducts (8/24) and symptomatic deviation of the nasal septum (7/24).	false
+8b2721ccd5daabc899a703be6fa9663b6cc24c99	Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and @DISEASE$ (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+a93d4239545ea270c5d998413f15c4175fd98e88	results in @DISEASE$ (AHC), whereas NR0B1 duplication in 46,XY individuals leads to @PHENOTYPICFEATURE$ and a female phenotype.	false
+e741150fee380ccadee6578afc92a68a867542a0	Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in @DISEASE$ and hypogonadal @PHENOTYPICFEATURE$ without testicular carcinoma in situ.	false
+25c28fe5eda5d5bd6ac5450ceee8453cb672c2fb	Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in @DISEASE$ and @PHENOTYPICFEATURE$ hypogonadism without testicular carcinoma in situ.	false
+579b9141ec39dc5b1f805cbf0251ac19a5f9bc5a	Genetic analysis of NR0B1 in @DISEASE$ patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and @PHENOTYPICFEATURE$ hypogonadism without testicular carcinoma in situ.	false
+17cd5acf5a700b1b26e4088106be4f70e576576f	Genetic analysis of NR0B1 in @DISEASE$ patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal @PHENOTYPICFEATURE$ without testicular carcinoma in situ.	false
+ecf36cbc0db8dc95fc0ab95f589503258b6ad597	There have been few testicular histology reports of adult patients with @DISEASE$/hypogonadal @PHENOTYPICFEATURE$ (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation.	false
+6af54dea6d81a8a14a5a98f8fb605b47d2083d9e	There have been few testicular histology reports of adult patients with @DISEASE$/@PHENOTYPICFEATURE$ hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation.	false
+752756a35c97c2e4a289308a1d1f734c3e89db50	@DISEASE$ (AHC) is a rare disorder characterized by primary adrenal insufficiency and @PHENOTYPICFEATURE$ hypogonadism.	false
+f0bfaf80587157be5ad45d0aa6cabfc38516e29e	@DISEASE$ (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic @PHENOTYPICFEATURE$.	false
+e662d4182e2d5f11f02470bd0ead5abd18bbbedb	Knockout of ush2a gene in zebrafish causes @PHENOTYPICFEATURE$ and late onset rod-@DISEASE$.	false
+7a23200a2cf16c235c8fda368a7941393b7e58a6	Rod-@DISEASE$, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features.	false
+91ab1184878ba57ac69f904968962720c82c37bb	We report a novel truncating mutation in DFNB31 associated with severe rod-@DISEASE$ and varying degrees of @PHENOTYPICFEATURE$ in a consanguineous family of Portuguese origin.	false
+c4d1a58b98655aaccd8ec01e3e430894a14c7425	The proband presented with @PHENOTYPICFEATURE$, night blindness, decreased visual acuity, and electrophysiological features of a rod @DISEASE$.	false
+9cbc530699700c2a828221c0417596aea124d54e	The primary clinical features are renal abnormalities, rod-@DISEASE$, post-axial polydactyly, learning difficulties, @PHENOTYPICFEATURE$ and male hypogonadism.	false
+2a419ca0d4028e089b0e8e38bb701796d9bbde2d	A mutation in SDCCAG8 is also associated with Bardet-Biedl syndrome (BBS), characterized by NPHP, @PHENOTYPICFEATURE$, polydactyly, and rod-@DISEASE$.	false
+652d9849003ef976fc2a341573edff99331feb16	Principal features of Bardet Biedl Syndrome are red @DISEASE$, @PHENOTYPICFEATURE$, polydactyl, hypogonadism and renal anomalies.	false
+86ed6a03734142a87a3c70e703a3d6aa6c05f0cf	A familial syndrome of progressive @DISEASE$, degenerative liver disease, endocrine dysfunction and @PHENOTYPICFEATURE$.	false
+f124bd35bb95a3ff0767a2cbbee5e8ec9e44c5d3	BBS is predominantly characterized by dysmorphic distal extremities, @PHENOTYPICFEATURE$, structural abnormalities or functional impairment of the kidney, rod @DISEASE$, and varying degrees of mental retardation.	false
+9aec250da5528c075c6b5f9df1f2bef7a2f83817	Bardet-Biedl syndrome is an autosomal recessive disorder characterized by rod-@DISEASE$, postaxial polydactyly, @PHENOTYPICFEATURE$, hypogenitalism, mental retardation, and renal dysfunction.	false
+8503edbfc0f3ffc2ed7be0345b8ca523019a4a0f	We report on an 8-month-old girl with intra-uterine growth retardation, microcephaly, incomplete cleft lip, axial hypotonia, @PHENOTYPICFEATURE$, and @DISEASE$ (phalangeal agenesis and absence of nails).	false
+fd3d07b72d53bc1162aacf6ff26a13e91d739a14	We report on an 8-month-old girl with intra-uterine growth retardation, @PHENOTYPICFEATURE$, incomplete cleft lip, axial hypotonia, failure to thrive, and @DISEASE$ (phalangeal agenesis and absence of nails).	false
+bb91cd88c1d812484850881f65e1c4f51a15989c	The search for peripheral markers of @DISEASE$ disorders in children, which would be more simple method for differentiating between parasomnias and @PHENOTYPICFEATURE$.	false
+ac8e0c3cca355e5470926ff5205ec049a6273ec9	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, @PHENOTYPICFEATURE$, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling @DISEASE$.	false
+bf694715b2d16bdf3e8dfa949b9e36fccb21922c	In addition to CCA, all cases presented with additional features of @DISEASE$ including @PHENOTYPICFEATURE$ and macrocephaly or megalencephaly.	false
+e048a9f8411072117acc917cfe7854d40a820e52	Orofacial dyskinesia (@DISEASE$) is a disorder characterized by @PHENOTYPICFEATURE$ of the oral and facial muscles.	false
+37358e939e3e0f5cebfb5d3deb14139ce481de16	The presence and frequency of the @DISEASE$ was operationalized and prospectively evaluated in patients with Alzheimer's disease (AD), amnestic mild @PHENOTYPICFEATURE$ (MCI), and behavioral-variant frontotemporal dementia (bvFTD).	false
+549ecb0699632fd21eabcaa63f900219e4c8f6e4	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+4c90fe0629190a115dc07e59aa118ed75ff91bab	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and @PHENOTYPICFEATURE$, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+94c3ed3a1d72c68378e4331ac4bea8412a42242d	This report presents a sporadic case of the @DISEASE$, the findings in which include the characteristic ocular anomalies, shortness of stature, @PHENOTYPICFEATURE$, absent dental defects and a peculiar, heretofore unobserved, myopathy.	false
+3e18e56ac95a1f4de6988915646abe7c32818562	The first child had a large basal encephalocele, @PHENOTYPICFEATURE$, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had @DISEASE$.	false
+a6a54274df1a3f23645d6b5f40948c1c3e2d429a	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases @PHENOTYPICFEATURE$.	false
+82cb3c11bd270f4a61af5bcd9a2bff8b5acbfb9a	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, @PHENOTYPICFEATURE$, normal karyotype.	false
+c35080541488902d29c51b0e5f48631577c4be82	A 50-year-old African American male patient with sickle cell disease presented with @DISEASE$, recurrent bone pains and @PHENOTYPICFEATURE$.	false
+b215732ddaa896b19552b709fe90209f7d7f6dee	Congenital diaphragmatic hernia and a complex @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+3ab82df285823d01004355e49d62d7c774f8abfd	We report the case of a 39-year-old female who presented with @PHENOTYPICFEATURE$ and cirrhosis from previously unrecognized @DISEASE$.	false
+53a9c26d8e944448797700fb67bdc2741522b407	We report a case of @PHENOTYPICFEATURE$ in the setting of unrecognized @DISEASE$ successfully treated by the simultaneous administration of deferoxamine and deferiprone.	false
+23bdfce93b3a11ce12ab114dfa29353a3c04b698	This rare case of a patient with @DISEASE$ associated with a HJV mutation provides histologic evidence documenting the reversal of associated end-stage @PHENOTYPICFEATURE$, requiring emergent mechanical circulatory support, with iron chelation therapy.	false
+51d57304b285eac96a43f44907ce50c372b4e273	Three previously-reported cases of medallion-like dermal dendrocyte @PHENOTYPICFEATURE$ also have had a previous histological misdiagnosis of probable neurofibroma; other reported cases have been misdiagnosed as congenital atrophic @DISEASE$.	false
+5b8b868394d7528ff30b184e569bd662bd68ed75	Medallion-Like Dermal Dendrocytic @PHENOTYPICFEATURE$, @DISEASE$, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency.	false
+d877c42ec708f89fc6272411f2dc6121ec3cdd35	Medallion-like dermal dendrocyte @PHENOTYPICFEATURE$ (DH) and superficial (plaque-like) dermatofibrosarcoma protuberans (@DISEASE$) are CD34-positive dermal neoplasms with overlapping clinicopathologic features.	false
+c89fdeefcb1fd1d8a06cbbaaa59088f92d915cba	Medallion-like dermal dendrocyte @PHENOTYPICFEATURE$ (DH) and superficial (plaque-like) @DISEASE$ (DFSP) are CD34-positive dermal neoplasms with overlapping clinicopathologic features.	false
+3bb4e5491638970cd1e3b991c5c394f824282b55	We observed that the main diagnostic pitfall of medallion-like dermal dendrocyte @PHENOTYPICFEATURE$ is atrophic congenital @DISEASE$ due to clinical and histological similarities.	false
+9e04de4126ea169eca4db5e58fc7fe1ba48ac0c7	The differential diagnosis included @DISEASE$, giant-cell fibroblastoma, angiofibroma, Bednar tumor, other types of dermal dendrocytic @PHENOTYPICFEATURE$, and neurocristic cutaneous hamartoma.	false
+000622094a8b2a108f4c72a389464b833c71cfe8	Medallion-like dermal dendrocyte @PHENOTYPICFEATURE$: the main diagnostic pitfall is congenital atrophic @DISEASE$.	false
+8272dbbafc4490104f83c7ad2629eb3bd98403de	Plaque-like CD34-positive dermal fibroma ("medallion-like dermal dendrocyte @PHENOTYPICFEATURE$"): clinicopathologic, immunohistochemical, and molecular analysis of 5 cases emphasizing its distinction from superficial, plaque-like @DISEASE$.	false
+e7f3b17f942738cd607c8cb6f7198adc70ff1dc6	In particular, applications in neuro-oncology, Parkinson's disease, @DISEASE$, and @PHENOTYPICFEATURE$ are discussed.	false
+ad822ab10461ac98fa2f40ee66ab683497110bdc	Progressive @PHENOTYPICFEATURE$ epilepsy in young adults with neuropathologic features of @DISEASE$.	false
+5a986e89e7f3d715fbf06497d91802411c8fdc93	SPG4, SPG3A and SPG31 are the three leading causes of @PHENOTYPICFEATURE$ (@DISEASE$) HSPs.	false
+c063429440bd13394079167bfb8e63196dd9ac6f	@DISEASE$, Parkinson's disease, myoclonus epilepsy of the Unverricht-Lundborg type, @PHENOTYPICFEATURE$, tardive dyskinesia and Down's syndrome have been associated with several mitochondrial alterations.	false
+2775b8a720617bb83b7d62124e37dd0a2b2db958	@DISEASE$, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy of the Unverricht-Lundborg type, spinocerebellar degeneration, tardive dyskinesia and Down's syndrome have been associated with several mitochondrial alterations.	false
+f46f90f5f4ff3a7c066028ac5eba1688f5509ab4	Confusion between severe AD and @PHENOTYPICFEATURE$ may account for part of the increased risk of lymphoma in patients with @DISEASE$.	false
+ab059d35bf13770a2a114775c3d5cc16e61ad637	Confusion between severe @DISEASE$ and @PHENOTYPICFEATURE$ may account for part of the increased risk of lymphoma in patients with AD.	false
+8985cc9a4f616fd342b8d2cf20bc9ac96df8a69e	The most common neurodegenerative disorders are @DISEASE$, Parkinson's disease, @PHENOTYPICFEATURE$ and Huntington's disease.	false
+f5eea6cc39afba3a34ade216e7875c6ffb5b45ad	This study aimed to elucidate the natural history of senile @PHENOTYPICFEATURE$ epilepsy, a type of myoclonic epilepsy associated with @DISEASE$ in adult Down syndrome patients.	false
+999e3104b9d935c78fc31d08f098288b0eea4573	This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of @PHENOTYPICFEATURE$ epilepsy associated with @DISEASE$ in adult Down syndrome patients.	false
+7f8d60abb4d39affbaeeaa1af13812644babeb7c	Several diseases affecting older individuals, including @DISEASE$, @PHENOTYPICFEATURE$, Huntington's disease, Parkinson's disease, stroke, Multiple Sclerosis and many others, are the most relevant disorders associated with NDG.	false
+9cc0ae5ad486a572d589b750b5ac79a85baf1fd5	Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including @DISEASE$, @PHENOTYPICFEATURE$, Parkinson's disease, X-linked adrenoleukodystrophy, and Smith-Lemli-Opitz Syndrome.	false
+e08abed1c78b76ad83e2380abe74167d56c1e13d	The value of biomarker comparisons between @PHENOTYPICFEATURE$ and late-onset @DISEASE$.	false
+0a6e27ad597e954954051001ed113360ad893091	Type I lissencephaly in the Miller-Dieker syndrome (@DISEASE$) and the isolated lissencephaly sequence (ILS) is differentiated from type II lissencephaly in the Walker-Warburg (@PHENOTYPICFEATURE$, agyria, retinal dysplasia with or without encephalocele, HARD +/- E) syndrome and related conditions (e.g.	false
+d7cef713b32ccf74464e8dda5c4d9bbb1e24bf92	Type I lissencephaly in the @DISEASE$ (MDS) and the isolated lissencephaly sequence (ILS) is differentiated from type II lissencephaly in the Walker-Warburg (@PHENOTYPICFEATURE$, agyria, retinal dysplasia with or without encephalocele, HARD +/- E) syndrome and related conditions (e.g.	false
+102e7e1522d2dea1df4d0eb620655981dd1735ca	Constitutive heterozygous GATA2 mutation is associated with @PHENOTYPICFEATURE$, lymphedema, mononuclear cytopenias, infection, myelodysplasia (@DISEASE$), and acute myeloid leukemia.	false
+1d282f39be3f7aec3b0c2ff7edbd1187415d314d	Several studies have shown that adherence to the Mediterranean Diet measured by using the Mediterranean diet score (@DISEASE$) is associated with lower @PHENOTYPICFEATURE$ risk.	false
+cee4e75b28d3126ece47d70d09e5e9da87c221b3	In contrast, associations between @PHENOTYPICFEATURE$ and @DISEASE$ were observed only in females.	false
+c0333c0bd1c37fd2a17013c24636cf23e6992b3f	TD-@DISEASE$ was associated with new diagnoses of @PHENOTYPICFEATURE$ (CHF; incident rate ratio [IRR], 1.92; 95% CI, 1.41-2.60),	false
+39c2eeb6c90f28c8881209b113055d2812958dc5	The purpose of this study was to report a case of bilateral blindness, bilateral necrotizing scleritis, and bilateral @PHENOTYPICFEATURE$ in a patient with myelodysplastic syndrome (@DISEASE$).	false
+ccdea0b2fc29710b95edc2dfb4a7dee54722df4c	@PHENOTYPICFEATURE$ manifestations may be more common than previously recognized in patients with @DISEASE$.	false
+be139ec9e921957ecbd23c79aec5b15e697a1da4	DM and @DISEASE$ share some predisposing risk factors such as @PHENOTYPICFEATURE$.	false
+7c80951bb306a8b6ef8a72b2cbe5211e01d2efd2	@DISEASE$ patients who have @PHENOTYPICFEATURE$ or chronic obstructive pulmonary disease had significantly shorter survival than patients without those conditions, whereas diabetes did not appear to have an impact on survival.	false
+47fcc4e9e73ce5d255fdda0863326be40a6e3bf0	As LPD may contribute to infertility and early @PHENOTYPICFEATURE$, further research is warranted to elucidate how dietary factors, such as @DISEASE$, may influence LPD.	false
+e67c8ea740ac55f919e5b6c6fb9cdb94c0054d90	A family having one member with Norrie's disease, @DISEASE$ associated with hearing loss and @PHENOTYPICFEATURE$, was studied using DNA markers.	false
+db8191ac5a24cbf492a34d43a4cfb3101116a1a9	Norrie disease is an @DISEASE$ that presents with congenital blindness, sensorineural deafness, and @PHENOTYPICFEATURE$.	false
+84c07624c22e386b223fb266e516731685c422ea	Knowledge about association between @PHENOTYPICFEATURE$ and cardiovascular autonomic neuropathy (CAN) @DISEASE$ (T1DM) might give some insight into the pathogenesis of this condition in these patients.	false
+f712edb9ec324d1e26bde8e460d15b88b363c4b7	Therapeutic interleukin (IL) 1 blockade normalises increased IL1 beta and decreased @PHENOTYPICFEATURE$ necrosis factor alpha and IL10 production in blood mononuclear cells of a patient with @DISEASE$.	false
+2fbc4df5b2db69d92128e1cae78bae9058174c93	@DISEASE$ @PHENOTYPICFEATURE$ cells showed high PKA activity, and an increase in their cAMP signaling led to PKA-specific activation of caspase-1.	false
+773b540262c627c67637d3b9273abf1c56717e07	We have reviewed the CNS manifestations of SLE, Beh?et's disease, Henoch-Sch?nlein purpura, polyarteritis nodosa, juvenile idiopathic arthritis, juvenile ankylosing spondylitis, familial Mediterranean fever, scleroderma, sarcoidosis, Wegener's granulomatosis, Takayasu's arteritis, @DISEASE$, Kawasaki disease, and primary CNS @PHENOTYPICFEATURE$; and adverse CNS effects of anti-rheumatic drugs in pediatric patients.	false
+0e2d955d0c40634a74632712e72b5c26ead128fe	In @DISEASE$ @PHENOTYPICFEATURE$ cells, as in cells with defective PKA regulation, increased prostaglandin E2 (PGE2) led to increased cAMP levels and activation of Wnt signaling, like in other states of inappropriate PKA activity.	false
+7bc88998d1c4ca71687fe1d6c206d5a17016c3f7	The present study demonstrates that @DISEASE$ bone lesions are derived from the same osteoblast progenitor cells that form fibroblastoid @PHENOTYPICFEATURE$ in mice and humans with defects that lead to increased cAMP-dependent protein kinase A (PKA) signaling.	false
+0f3b204c48c675195a7cf98e3c1d226f547113a1	Patients with genetic defects of the cyclic (c) adenosine-monophosphate (AMP)-signaling pathway and those with @DISEASE$ (NOMID) develop @PHENOTYPICFEATURE$-like lesions of the long bones.	false
+ad616d63c94faa82b9375d3485d6a47081f2de8e	Patients with genetic defects of the cyclic (c) adenosine-monophosphate (AMP)-signaling pathway and those with neonatal-onset multisystem inflammatory disease (@DISEASE$) develop @PHENOTYPICFEATURE$-like lesions of the long bones.	false
+d4691bd7ab4b17c49c2a0f601e90bf6acb7feb0d	Two adult brothers presenting with the clinical phenotype of @DISEASE$ (one also with @PHENOTYPICFEATURE$), were shown to have a severe deficiency of both HEX A and HEX B activity (Sandhoff biochemical pattern).	false
+06461d3eeea8e14f32b07fda316e2899d4573dfc	Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar @PHENOTYPICFEATURE$, Friedreich ataxia, amyotrophic lateral sclerosis, @DISEASE$, Fazio-Londe disease, and Charcot-Marie-Tooth disease.	false
+d45c8b3b901a3ec094fb09be6ae9ea5da447c169	Individual cases have resembled Ramsey-Hunt syndrome, olivopontocerebellar ataxia, Friedreich @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis, @DISEASE$, Fazio-Londe disease, and Charcot-Marie-Tooth disease.	false
+0e872227be1e2b063d95d352989c4c408ada4821	The diagnosis and orthopaedic treatment of @DISEASE$, peripheral neuropathy, Friedreich @PHENOTYPICFEATURE$, and arthrogryposis.	false
+b2ea2b3d8f2fc8c1dad9afb5d8b80a8c63680bbb	Four patients, one with sympathetic ophthalmitis and three with @DISEASE$, are described, in whom optic disc swelling with @PHENOTYPICFEATURE$ was the predominent sign at one stage of the disease.	false
+da116f7ae7ea458067d1a7563b86ca3cf8db4fa8	Clinicians should consider @DISEASE$ in patients presenting with headache with acute profound @PHENOTYPICFEATURE$.	false
+286ca6dd3b5241e4d1284a0fc88eab65ba369cba	Lymphocyte T subsets are determined by system OKT in 20 patients with various types of uveitis (Beh?et disease 8, @DISEASE$ 5, anterior uveitis 4, Kirisawa type @PHENOTYPICFEATURE$ 1, uveitis associated with Psoriasis vulgaris 1, undetermined type uveitis 1).	false
+4407c21f028c5a859bbd9ee550d681acf32186bf	Among other non surgical conditions associated with uveal effusion are idiopathic (uveal effusion syndrome, @PHENOTYPICFEATURE$) and inflammatory diseases (scleritis, sympathic ophthalmia, pars planitis, @DISEASE$).	false
+eeebfb10411db8b6126b038b831b0a0c8f1c6f0b	@DISEASE$ (VKH) is an autoimmune disorder causing a bilateral diffuse granulomatous @PHENOTYPICFEATURE$, often with several associated extraocular manifestations.	false
+963cf0897ed6c6061cea2704fd24eed2ede8f3f4	Twenty-four patients diagnosed with @DISEASE$ were assessed for auditory and @PHENOTYPICFEATURE$.	false
+d38ee68cc839a31342ec1adb57b5f5f69463b0f2	A twelve-year-old girl with a diagnosis of @DISEASE$ syndrome and recurrent skin and mucosal infections since birth, presented with a two week history of fever, abdominal pain, @PHENOTYPICFEATURE$, weight loss and polyarthralgia.	false
+a7410a13321bf96eabf9ac4e13deb4d12f12bf5e	A twelve-year-old girl with a diagnosis of @DISEASE$ syndrome and recurrent skin and mucosal infections since birth, presented with a two week history of fever, @PHENOTYPICFEATURE$, vomiting, weight loss and polyarthralgia.	false
+8c2e13c5793f4278a62b786cf3e5437ceb0dae25	The average cost per @DISEASE$ across solid @PHENOTYPICFEATURE$ types based on the weighted average of inpatient and outpatient costs was ?2653 for radiation to bone, ?5015 for a vertebral fracture, and ?7087 for a non-vertebral fracture.	false
+a378713427d0670221f51570810ed6f1b01ff197	@DISEASE$ (FHS) is characterized by characteristic @PHENOTYPICFEATURE$, short stature with delayed bone age, and expressive language delay.	false
+c545aeb64063fc705e6f4d79fe3c86944825daa1	The @DISEASE$ (FHS) is a rare entity characterised by a clinical triad: @PHENOTYPICFEATURE$, retarded speech development and short stature with delayed bone age.	false
+dcaaf18f9d1abb63543237185158d4c1aebfb25e	The data from 44 patients with documented @DISEASE$ who received 1.5 g/m2 of misonidazole twice weekly in conjunction with whole brain radiotherapy (total dose 6000 rad) was analyzed for factors associated with the development of @PHENOTYPICFEATURE$.	false
+221c345eabe0f962e69e9f659b4a622722b38f77	These findings led to diagnosis of typical @DISEASE$ (CIDP) with notable feature of postural finger tremor and @PHENOTYPICFEATURE$ of unknown cause.	false
+c4bcb880c41f5544fbded45a28c97785189b431c	Rituximab (375 mg/m(2) intravenously each week for 4 weeks) was administered in a prospective, open-label design to two patients with @DISEASE$ (CIDP), two with multifocal motor neuropathy (MMN), one with neuropathy and anti-myelin-associated glycoprotein (MAG) antibody neuropathy, and one with Sj?gren syndrome (SS) @PHENOTYPICFEATURE$ neuropathy.	false
+8edcd32b28c9c6d7e496ba7b2fdf9056e25b3d4f	Anti-Neurofascin autoantibodies cause a specific type of @DISEASE$ (CIDP) often characterized by @PHENOTYPICFEATURE$ and tremor.	false
+5094e100e8945e2b66b377f5c7b5bd2eb5573012	Patients with @DISEASE$-MGUS had less severe weakness, greater imbalance, leg @PHENOTYPICFEATURE$, vibration loss in the hands, and absent median and ulnar sensory potentials, but were as likely as CIDP-I patients to respond to plasma exchange.	false
+ee2fc12bd71dec853488eeea377350e8ab1ff284	Prespecified adverse events included anaphylaxis, allergic reaction, appendicitis, Guillain-Barr? syndrome, @DISEASE$, injection site reaction, pancreatitis, @PHENOTYPICFEATURE$, stroke, syncope, and venous thromboembolism.	false
+136de4659a67649314de5395caebd9a03b983453	Lastly, IVIG are employed successfully in some autoimmune diseases as PTI and immune cytopenias, myasthenia gravis, acute and @DISEASE$, Kawasaki syndrome, childhood recurrent @PHENOTYPICFEATURE$, juvenile chronic arthritis.	false
+513cb207a24465116e4cab2b30f772e63d8bdf2a	Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (@DISEASE$) is a rare skeletal dysplasia characterized by platyspondyly, @PHENOTYPICFEATURE$, and metaphyseal changes.	false
+f95f55dc23371766a19db028b8a8e00b1bf815b2	We describe a fetus with @DISEASE$ (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+f7910825eca37c9e90cb423a682898bbae89058f	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare skeletal dysplasia characterized by platyspondyly, extremely short limbs, and mild @PHENOTYPICFEATURE$.	false
+3709bfa4a91e511a25d53329d55f0ad78003933e	Thus, spondyloperipheral dysplasia and @DISEASE$ constitute a novel subfamily within the type II collagenopathies, associated with specific mutations in the C-propeptide domain and characterized by distinctive radiological features including metaphyseal changes and @PHENOTYPICFEATURE$ that set them apart from other type 2 collagenopathies associated with mutations in the triple-helical domain of COL2A1.	false
+9d2b21e9a85cb4bb4b96a197825de0bdc4d0fa13	Pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+10ead0f8fa8d84c708207ca34dfc02f5b8044750	The role of laparoscopic @PHENOTYPICFEATURE$ ablation in giant symptomatic renal cysts and non-@DISEASE$ has been discussed.	false
+62abd1cd37226f5cf3abd09166c3950ab5183d3d	The role of laparoscopic renal cyst ablation in giant symptomatic @PHENOTYPICFEATURE$ and non-@DISEASE$ has been discussed.	false
+dcf55a859d7fff774f52a0a9b5c52a1f81a1b142	[Case of infected @PHENOTYPICFEATURE$ in @DISEASE$].	false
+490d9216d1fb81a145da90ed3f81f8a79cf82986	Novel methodology to evaluate @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e479c715bd6a477dda401cc45154cfc6f1f7a1a3	Calcified hepatic and @PHENOTYPICFEATURE$ in adult dominant @DISEASE$.	false
+5353f55ae7f3cdffbb3ec7c042fe818096f55c40	Pathogenesis of @PHENOTYPICFEATURE$ in dominantly inherited @DISEASE$.	false
+abef24a1b84bade2441f167393afdffd871de1ba	@DISEASE$: @PHENOTYPICFEATURE$ infection detected on F-18 FDG PET/CT.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+27bb8dfda2a514a022d960404598ca06f8306c42	MRI of hemorrhagic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a708a23d7d427e5900dcbf8e697c03ae5bfaa48d	Computed tomography of high density @PHENOTYPICFEATURE$ in adult @DISEASE$.	false
+e9f309e60ae4b91979901a72fc277b531aa166e2	@DISEASE$ patients show characteristic microcephaly, which is rare in association with AT and they do not develop @PHENOTYPICFEATURE$ and teleangiectasia.	false
+056f07e79958aa79a440f573cc23798bdfc454fd	@DISEASE$ was defined as one or more of the following: jitteriness, irritability, lethargy, hypotonia, @PHENOTYPICFEATURE$, hyperreflexia, apnea, respiratory distress, vomiting, poor feeding, or hypoglycemia.	false
+fbd2cc9a2003cc83285ae4bdc7c5eb61f13fde61	LCLs established from @DISEASE$ (NBS) could be distinguished from @PHENOTYPICFEATURE$ and normal cell lines by their intermediate level of survival following exposure to NCS.	false
+032d3995470d89a27861c5578c95db83dfc13a2d	LCLs established from Nijmegen breakage syndrome (@DISEASE$) could be distinguished from @PHENOTYPICFEATURE$ and normal cell lines by their intermediate level of survival following exposure to NCS.	false
+451dd586146af4112fe79dee6b519886b90f0060	Universal newborn screening (@DISEASE$) has virtually eliminated the static @PHENOTYPICFEATURE$ and devastating neurodevelopmental syndrome known as cretinism.	false
+c3ff14a7349ea391d6f6784655a1529693541046	While the cellular characteristics of @PHENOTYPICFEATURE$ teleangiectasia (AT) and @DISEASE$ are similar, the clinical findings are quite distinct.	false
+1c2d8ec2ce3dfcaf93c764a1e42806c1ebae0972	Bloom syndrome, @PHENOTYPICFEATURE$ teleangiectasia and @DISEASE$).	false
+93f129c312ae220d15b097866950954f7e852e64	Headache, dysarthria, @PHENOTYPICFEATURE$, and hemiparesis are the main clinical features of @DISEASE$.	false
+2b0e0078c95b13fd2bbd3571ba068b19e2fc45db	Patients with @DISEASE$ have a high degree of comorbid psychiatric illness, catastrophizing and @PHENOTYPICFEATURE$; comorbid substance abuse must also be considered among this population.	false
+b9bd68589583438061b4fd9cc659c6170badd5d4	As in @PHENOTYPICFEATURE$ teleangiectasia and other breakage syndromes, @DISEASE$ patients show inherited malignancy susceptibility and hypersensitivity to X and gamma radiation.	false
+501a981d27e30d34173bdc66901dea7107de6739	@DISEASE$ (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, microcephaly, cerebellar developmental defects and @PHENOTYPICFEATURE$.	false
+d17fa37165b585416c297ece92cf0411b605172c	Nijmegen breakage syndrome (@DISEASE$), ataxia telangiectasia and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, microcephaly, cerebellar developmental defects and @PHENOTYPICFEATURE$.	false
+790c32f2674f7909c5b19afd3ad61c5ec5e7ca0f	Biochemical analyses of the cells, isolated by the primary @PHENOTYPICFEATURE$ in alpha-CbT-treated mice, showed apoptosis features characterized by: (i) inhibition of BAD phosphorylation at Ser(112) and Ser(136); (ii) @DISEASE$ dissociation from 14-3-3; (iii) BAD association with BCL-XL; and (iv) cleavage of caspase-9.	false
+dcef47ae4d63ee1ad6a2d2b16065facc693cf045	Biochemical analyses of the cells, isolated by the primary @PHENOTYPICFEATURE$ in alpha-CbT-treated mice, showed apoptosis features characterized by: (i) inhibition of @DISEASE$ phosphorylation at Ser(112) and Ser(136); (ii) BAD dissociation from 14-3-3; (iii) BAD association with BCL-XL; and (iv) cleavage of caspase-9.	false
+6b117098c8d4f678c75557fc5869358eec2c8d2e	Indication for total hip arthroplasty was osteoarthritis (62.5% of patients), @PHENOTYPICFEATURE$ (25%), and @DISEASE$ (12.5%).	false
+7f7b8a7364fd43959bbde0929fd3b7bc83913763	Uncorrected @DISEASE$ (DDH) is associated with long-term morbidity such as @PHENOTYPICFEATURE$, chronic pain and degenerative arthritis.	false
+b645ac81f12cad1f1f8a60b65b515cfcab741011	Uncorrected @DISEASE$ (DDH) is associated with long term morbidity such as @PHENOTYPICFEATURE$, chronic pain and degenerative arthritis.	false
+cb4146780477adadb9d2a45aad511c621527bc7a	Ten patients had Perthes disease, 4 had @DISEASE$, and 4 had @PHENOTYPICFEATURE$ of the hip.	false
+c25df480829a40885a620ded7458e19ee12964fc	In addition, she had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+47076340eb169d4968f88b11b5852d223bae21a8	Thirty-three unstable hips in 27 children with @DISEASE$, cerebral palsy, or @PHENOTYPICFEATURE$ were studied.	false
+0967e45a3ec8e9906520d2efd3effa755d1759e1	We identified 10 common diagnoses in pediatric orthopaedics: brachial plexus injury, cerebral palsy, clubfoot, @DISEASE$, leg length discrepancy, osteochondroma, polydactyly, scoliosis, @PHENOTYPICFEATURE$, and syndactyly.	false
+a150d95483b78aa6f90f3a4d43407c9564fd504c	We identified 10 common diagnoses in pediatric orthopaedics: brachial plexus injury, cerebral palsy, clubfoot, @DISEASE$, leg length discrepancy, osteochondroma, polydactyly, scoliosis, spina bifida, and @PHENOTYPICFEATURE$.	false
+5a39d0c009a5f009550df974b8aa37ac06711cc5	Thirty patients with unilateral @DISEASE$ treated by the same operation before 3 years of age and who developed early signs of @PHENOTYPICFEATURE$, were studied.	false
+cb4146780477adadb9d2a45aad511c621527bc7a	Ten patients had Perthes disease, 4 had @DISEASE$, and 4 had @PHENOTYPICFEATURE$ of the hip.	false
+3f7354c0998947e59af1ebaf3ca89ac88aac5a8e	A lower expected value implies a greater risk for the development of osteoarthritis as a result of @DISEASE$ or @PHENOTYPICFEATURE$; thus, the optimum strategy was selective screening.	false
+35ae5b41d552a7af454fb8fd000fd798c9af2004	Duplications of BHLHA9 are associated with @PHENOTYPICFEATURE$ and @DISEASE$ inherited in non-Mendelian fashion.	false
+bbae8a73692db999f4d23dcd0e7a58098a8d2167	@DISEASE$ with @PHENOTYPICFEATURE$ is reported for the first time in monozygotic female twins with a positive family history for limb anomalies.	false
+a8ab4f1c5cc50cbdf69e0730cffc199c2b59732f	A subsequent similar headache attack was also associated with ipsilateral @DISEASE$ ataxia and @PHENOTYPICFEATURE$.	false
+e12424de52eb1473219aa03f6bf14aa6c503666d	@PHENOTYPICFEATURE$ are a characteristic feature of true @DISEASE$ patients.	false
+c387c587df127c720f08d412fbb1eebad1db1dad	@PHENOTYPICFEATURE$ is prevalent in at-risk mental states (@DISEASE$) for psychosis.	false
+456d4535e6f8878957a6318d6e90b86cf56750a2	@PHENOTYPICFEATURE$ and a high prevalence of depressive symptoms have been reported in at-risk mental state (@DISEASE$) for psychosis, but the relationships between these variables remain unclear.	false
+b41a3f329382869721c6d187ccec72e09394229d	Although clinical findings due to @DISEASE$ improved after glucocorticoid therapy there was no improvement in opthalmoplegia and @PHENOTYPICFEATURE$.	false
+2b667b76b367a5d15ed66457279b830e46cc8c6e	A variety of clinical presentations of pituitary apoplexy have been reported including absence of clinical symptoms or headache, sudden deterioration of mental status, visual changes, @DISEASE$, and ophthalmoplegia, including third cranial nerve palsy and/or @PHENOTYPICFEATURE$.	false
+76d8db66558445f5c45ae6af99160d302636affe	@DISEASE$ is characterized by developmental delay, growth failure, cryptorchidism, bilateral hand and foot syndactyly, and @PHENOTYPICFEATURE$.	false
+f8ca0443fdec09a75c2882800b0efdcab963287b	@PHENOTYPICFEATURE$ of infancy with prolonged survival--the variable course of @DISEASE$.	false
+d1a539e4a45dfebea722df7692d56790ba52a0e0	The human neuronal apoptosis inhibitory protein (NAIP) gene was originally discovered because of its deletion in @DISEASE$ (SMA), a childhood genetic disorder characterized by motor neuron loss and progressive paralysis with @PHENOTYPICFEATURE$.	false
+b6ec723d4e4b64451ca7a7eb9d30163d5e14e0d0	The basic lesions in the muscle biopsies of 11 cases of @DISEASE$ showed typical neurogenic fascicular @PHENOTYPICFEATURE$.	false
+1afd47738d1d77151ad44f8b0e77d5f76eeae3a2	Examination of the sensory nervous system in patients with @DISEASE$ appears mandatory to clarify the precise disease entity leading to infantile @PHENOTYPICFEATURE$.	false
+84a43da21025d0c2c5917f6e838b4fbdd76ae449	In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, @PHENOTYPICFEATURE$, dysmorphic features, and @DISEASE$ (CMT1A).	false
+1fc1923ac0863c84d5e8abe9304e66e7de16492c	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, @PHENOTYPICFEATURE$, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8c557e81cbc565064b503348fe9037ff48c850e4	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the @DISEASE$, and the VATER (vertebral anomalies, @PHENOTYPICFEATURE$, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+bb7d2365f9e312abdd5bc565f22fc0c751924a5d	Targets of the IFN-activated monocytic cells were either four human tumor cell lines (human osteosarcoma [@DISEASE$], LOX melanoma, A549 @PHENOTYPICFEATURE$, and SNB-19 glioblastoma) or two diploid cell lines (WI38 and MRC5).	false
+1a9de1e8b80e732b7c0912ca85eb420361d4210e	The most commonly described @DISEASE$ in patients with a history of seizure and patients with new-onset seizure was a @PHENOTYPICFEATURE$ (72 [33%]).	false
+7eed71b67aa199d186b8563718661269ee24ec85	This conventional genetic approach has succeeded in identifying the genes and molecular defects responsible for @DISEASE$, epidermolysis bullosa simplex of Koebner and Dowling-Meara, @PHENOTYPICFEATURE$ and piebaldism.	false
+0c20bf68d0daf18f97f5045022f3e33436517565	The results provide new insight into the functional role of WDR73 in brain development and show that perturbation of its function in an inherited disorder in humans is associated with @PHENOTYPICFEATURE$ as well as nephrotic disease, consistent with @DISEASE$.	false
+e87fef27257e22497b17176677ee72622ca4d26d	Among them are aortic dissection, ruptured abdominal aortic aneurysm, vertebral @PHENOTYPICFEATURE$, spinal epidural abscess and the cauda equina syndrome (@DISEASE$).	false
+f4ef66127917f367ba8e0aa8707123157dd155ce	In bivariate analyses, sleep complaints were associated with female gender, White race, older age, @PHENOTYPICFEATURE$, lower education, presence of chronic health conditions, poor self-rated health, and higher scores on a self-rated depression scale (the @DISEASE$-D).	false
+22d47afaad08b5449dbc212e3e3d18ec4017e7d0	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", Parry-Romberg syndrome, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (@DISEASE$-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+71fe3597a3603ce76bcc42eead75b765b698b24d	However, BID remains a good candidate for involvement in CES-related @PHENOTYPICFEATURE$, and its overexpression may subtly add to the phenotype of @DISEASE$ patients.	false
+dd5fc68429837d894194d7eb7f2b25b7a3100407	Depressed patients with suicidal ideation did not differ significantly from depressed non-suicidal patients on any of the following variables: age, gender, race, education, alcohol abuse, @PHENOTYPICFEATURE$, or mean @DISEASE$-D, HAM-D, or SIP scores.	false
+7c163886974239480c37c73a0181ed955fc63fe6	@DISEASE$ (MPE) is an exceedingly rare @PHENOTYPICFEATURE$ histology.	false
+cb1c34a762632e37fcf427c13ba5af25afebdd91	All of the @PHENOTYPICFEATURE$ demonstrated histologic features diagnostic of @DISEASE$.	false
+2c49d27c2ff59d195b1edabf5120925d9d6e6711	Laminectomy and total resection of the spinal @PHENOTYPICFEATURE$ were performed and a diagnosis of @DISEASE$ was made histologically.	false
+808ec473793f6ec24da059ba1d164bf0b040fbcd	@DISEASE$ (MPE) is a rare @PHENOTYPICFEATURE$ in children.	false
+11c2447b7ca7ebcf51106277c67ebb973560be7b	@DISEASE$ (MPE) is a slow-growing @PHENOTYPICFEATURE$, occurring most often in adults.	false
+68a43583021070963c50424cd37b97f63dd7422c	@DISEASE$ (ME) is a rare @PHENOTYPICFEATURE$ with a predilection for sacrococcygeal area of adults.	false
+fc3e43af9cb1b147d85ee65c592cd6953c7453cc	@DISEASE$ is a benign slow-growing @PHENOTYPICFEATURE$, arising predominantly in the region of the filum terminale.	false
+9d28a894125effcf814cfdbba96c854d555f7135	@DISEASE$ is the commonest @PHENOTYPICFEATURE$ at this location.	false
+6b956c980de01058c3b7ca5331474ffa4786f80d	Cerebrospinal @PHENOTYPICFEATURE$ dissemination in a patient with @DISEASE$.	false
+eb510bb4978b44134a6685a6b6b74f9730a81f34	@DISEASE$ (MPE) is a rare @PHENOTYPICFEATURE$ of the distal spinal cord.	false
+5c97e16bab45862117855adc15ddc6e074f92991	Our data show a high prevalence of @DISEASE$ in Northern Norway similar to Northern Finland, but with a much higher degree of @PHENOTYPICFEATURE$ heterogeneity.	false
+a883495e5e0a8b59f4b6a604732ee0a37dbd13c9	Four of the patients had MEM with lactic acidosis and strokelike episodes (MELAS), 2 had @DISEASE$ (KSS), 1 had @PHENOTYPICFEATURE$ epilepsy with ragged red fibers (MERRF) and 3 had cytochrome C oxidase deficiency (CCOD).	false
+5306a7a17925d4d0f9703cf7291852d0d3349be2	Fourteen patients had chronic progressive external ophthalmoplegia (CPEO) associated with a mild to moderate craniosomatic myopathy without any symptoms or signs of central nervous system (CNS) involvement, 2 @PHENOTYPICFEATURE$ epilepsy with ragged red fibers syndrome, and 1 @DISEASE$.	false
+41c6a4cef30c3f525c77c0e403ac9815b9256f65	Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmoplegia (n = 7), @DISEASE$ (n = 7), mitochondrial neurogastrointestinal encephalopathy (n = 6), and @PHENOTYPICFEATURE$ epilepsy with ragged red fiber myopathy (n = 1).	false
+6044b9d9f3f1c320dfe280a179f532c850ab84b2	The patients were classified into seven phenotypes: myopathy, chronic progressive external ophthalmoplegia, progressive ophthalmoplegia plus ataxia, @DISEASE$, mitochondrial encephalomyopathy with lactic acidosis and stroke episodes (MELAS), @PHENOTYPICFEATURE$ encephalopathy with ragged-red fibers (MERRF), and encephalopathies.	false
+0e1b4d0c78119013121b6f7f426b157e9d1ca274	The first group includes @PHENOTYPICFEATURE$ epilepsy with ragged-red fibres (MERRF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), @DISEASE$ (KSS), chronic progressive external ophthalmoplegia (CPEO) and a new entity, maternally inherited myopathy and cardiomyopathy.	false
+18a99ad07fc436496bc5cefbb9d2a6a7192c46b6	Specific syndromes were the presenting feature in 8 (13%), @DISEASE$ (KSS) in 4 and @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF) in 4. Myopathy was the presenting feature in 5 (8%) and 4 presented with infantile myopathy.	false
+45001cb2dc88e458f17bf14c6338a2b4cc81c3f0	The m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), @PHENOTYPICFEATURE$ epilepsy with ragged red fiber (MERRF), Leigh syndrome, or MELAS/KSS (@DISEASE$) overlap.	false
+1e005562f67364de19126deb7fb97720c363c663	Some MELAS patients have features of the @DISEASE$ (KSS) or @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome.	false
+46c77bf12c339c87c65b630e462c858f86783ff4	In single cases the A3,243G mutation may be associated with maternally inherited diabetes and deafness syndrome, @PHENOTYPICFEATURE$ epilepsy and ragged-red fibers (MERRF) syndrome, MELAS/MERRF overlap syndrome, maternally inherited Leigh syndrome, chronic external ophthalmoplegia, or @DISEASE$.	false
+aa6b82faf200cd62a7b2322d35b4045a172f6c7c	However, the investigation of the mtDNA mutations found in classic mt disorders (mt encephalomyopathy with lactic acidosis and stroke-like episodes, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, @DISEASE$, and Leber hereditary optic neuropathy) has not demonstrated any association.	false
+52e0d867659adcf1c0fb17171ae8280a4d7d71b7	Chronic @DISEASE$ associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent @PHENOTYPICFEATURE$ and without visceral and bone involvement.	false
+e7590b6a8518714e9deb5084e59ed9e157e8bcab	@DISEASE$ type 3, caused by a genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) in tyrosine catabolism, is characterized by convulsion, @PHENOTYPICFEATURE$, and mental retardation.	false
+188756dd0c0b835210c3b17d77d337a07e4abd90	@DISEASE$ type 3, caused by a genetic deficiency of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) in tyrosine catabolism, is characterized by convulsion, ataxia, and @PHENOTYPICFEATURE$.	false
+4763ea3a450e646247e460beec85d4c749bc6bed	[@DISEASE$ and Richner-Hanhart syndrome (an autosomal recessive hereditary metabolic disease of childhood with bilateral dendritic pseudokeratitis, keratosis palmaris et plantaris and @PHENOTYPICFEATURE$)].	false
+bf14a20d2a361f4aa45f581ab0f89b81ea9fd9f0	Type II @DISEASE$ (Richner-Hanhart syndrome) is a familial aminoacid disorder, clinically characterized by ocular changes (keratitis), palmo-plantar hyperkeratosis, no constant mental changes with @PHENOTYPICFEATURE$, abnormal urinary excretion and high serum tyrosine level in consequence of the absence of tyrosine-aminotransferase. Almost 20 families have been described in the literature of which 50% are of Italian origin, suggesting that this disorder is particularly frequent in our country.	false
+5c9a95fba4e0b5f11e13efec4be925c9caeeef7d	@DISEASE$ II has @PHENOTYPICFEATURE$, palmar hyperkeratosis and corneal ulcers.	false
+2fce0975422b3954ba2b20a0971e46548549b090	The Richner-Hanhart syndrome with @DISEASE$ was recognized in a @PHENOTYPICFEATURE$ adolescent boy.	false
+8791524f9d11e71d57f5b93609bddfc9651f11b7	A new hepato-pancreato-renal disorder resembling @DISEASE$ involving neuropathy and @PHENOTYPICFEATURE$ of polyunsaturated acids.	false
+d487aa6ee43fc2c16e6ceaf5658bc0a43bcafe0b	@DISEASE$ and intractable @PHENOTYPICFEATURE$.	false
+e631635e64935a73cc60e6927918924bd5718b55	We have restudied a patient with typical symptoms of @DISEASE$ II who in addition suffers from multiple congenital anomalies including @PHENOTYPICFEATURE$.	false
+dcefdd5dcafdceab4e94a270b775f7f36d5515f1	Along with bone and tooth symptoms, many neurological symptoms, seizure, encephalopathy, intracranial hypertension, @PHENOTYPICFEATURE$, deafness, and growth hormone deficiency (GHD), are frequently found in @DISEASE$ patients.	false
+63d0360bd8ecf97c04608f674bd6386c371a3da2	Along with bone and tooth symptoms, many neurological symptoms, seizure, @PHENOTYPICFEATURE$, intracranial hypertension, mental retardation, deafness, and growth hormone deficiency (GHD), are frequently found in @DISEASE$ patients.	false
+f76660295ed0e9e6bc3f40c685cc171b43f3d48e	For instance, deficiency in tissue-nonspecific alkaline phosphatase (TNAP) in mice (Alpl (-/-) mice) and humans leads to @DISEASE$ (HPP), an inborn error of metabolism characterized by epileptic seizures in the most severe cases, caused by @PHENOTYPICFEATURE$ of pyridoxal-5'-phosphate (the predominant form of vitamin B6) and by hypomineralization of the skeleton and teeth featuring rickets and early loss of teeth in children or osteomalacia and dental problems in adults caused by accumulation of inorganic pyrophosphate (PPi).	false
+0f734a42f6f1807b467f02e4b865ec6464e47362	For instance, deficiency in tissue-nonspecific alkaline phosphatase (TNAP) in mice (Alpl (-/-) mice) and humans leads to hypophosphatasia (@DISEASE$), an inborn error of metabolism characterized by epileptic seizures in the most severe cases, caused by @PHENOTYPICFEATURE$ of pyridoxal-5'-phosphate (the predominant form of vitamin B6) and by hypomineralization of the skeleton and teeth featuring rickets and early loss of teeth in children or osteomalacia and dental problems in adults caused by accumulation of inorganic pyrophosphate (PPi).	false
+08f91512ddec7acf8629f1ed5755982279b546ee	Fibrous dysplasia, Paget disease and @DISEASE$ are updated, as well as atypical femoral fracture and @PHENOTYPICFEATURE$ of the jaw.	false
+66aa851e110f3dcf6779828cdc9c46b328ee4310	@PHENOTYPICFEATURE$, deafness and GHD are more frequently found in Japanese @DISEASE$ patients.	false
+4a970d12aba84a4e1740f4a9c6779fb7e61cfbbe	There were no significant differences in subsequent rates of @DISEASE$, multiple organ failure, @PHENOTYPICFEATURE$, deep vein thrombosis, pneumonia, mechanical ventilation days, intensive care unit LOS, and death.	false
+874e617ab4e57444e38792412049f206b2f92e14	Two of the three patients had marked restrictive lung disease associated with the @DISEASE$ and the third patient had large bilateral @PHENOTYPICFEATURE$.	false
+9c06032f727405e62d82ad2423e8b1da68879533	Pediatric @PHENOTYPICFEATURE$ and @DISEASE$ disease.	false
+c949e710af14689eb87046fa070dde4b7e80fab0	[@DISEASE$ disease in children with @PHENOTYPICFEATURE$].	false
+2f8ac1ccb0ca1301962fb91679a3a6e6ec8ce4e2	The authors conclude that dieting does not account for the association between @PHENOTYPICFEATURE$ and @DISEASE$ disease.	false
+95c81fbc004c5b025e486dc1fd972c6b57e9039b	@PHENOTYPICFEATURE$ and @DISEASE$ in Chinese patients with hemoglobin H disease.	false
+d162fc0846a657092ca8c233f7cea94849160e87	@DISEASE$ disease has been regarded as an @PHENOTYPICFEATURE$-related disease.	false
+f2ee5746bfc0a178737debf413177dffda1d83e1	In this work, epidemiologic and pathophysiologic factors related with @PHENOTYPICFEATURE$ and @DISEASE$ disease are discussed.	false
+cd8e4350aed6b50f0622acc6f3e167e746c458b4	Moderate @PHENOTYPICFEATURE$ imposes at least a three-fold risk of @DISEASE$ disease in Caucasian women.	false
+287115c3cea651b2cfa873e16b55d5f86cb99d4f	@DISEASE$ disease was positively related to number of pregnancies, @PHENOTYPICFEATURE$, and economical status.	false
+abc2200332e5e60bd1b93f676be273a308ffd109	Small-intestinal bacterial @PHENOTYPICFEATURE$ may be one etiologic factor in pigment @DISEASE$ disease, previously shown to be prevalent in patients with juxtapapillary duodenal diverticula.	false
+576b2b3931c92499f21d9ff4b444756dbadd86e6	Age, female sex, and @PHENOTYPICFEATURE$ are considered to be risk factors for @DISEASE$ disease.	false
+f5b666c01db24a98d0aa5ab516deec502cba19b2	[Hypotrichosis, dystrophic onychopathy, and @PHENOTYPICFEATURE$ in a case of @DISEASE$].	false
+0e79c5b9062db492de17e22aaadbaf30914209bd	Basal iridectomy is a pupillary bypass having a prophylactic role, when made on an eye with @DISEASE$ @PHENOTYPICFEATURE$, and a curative role when performed on an eye with primary narrow angle glaucoma in the reversible stage of the disease.	false
+6cddf288c9c9a9098e256617641f4e934a516689	Over the last five years, we have treated 31 cases of ALHL, in about half of which neurotological examination showed @DISEASE$ peripheral @PHENOTYPICFEATURE$ on testing positional nystagmus (a) with closed eyes and (b) in a dark room with open eyes, and by finding laterality in the peripheral labyrinth system on caloric test.	false
+246bd23e5f3eac4b02e4095804c640a0648ec740	@DISEASE$ facial nerve abnormalities should always be considered in patients with inner-@PHENOTYPICFEATURE$.	false
+9426332f36a817fa7681e9ff2c9e388085e6dbef	Although @PHENOTYPICFEATURE$ is unequivocally the most common adult renal tumor, there is growing evidence that some "clear cell" renal neoplasms, such as exemplified by multilocular cystic clear cell renal neoplasm of low malignant potential (formerly multilocular cystic renal cell carcinoma), do not have the same potential for insidious progression and metastasis, warranting reclassification as low malignant @DISEASE$ tumors or benign neoplasms.	false
+96eb9c5d74dd375806f95ddfa8dd2505a290fb99	A study of whirlin isoforms in the mouse vestibular system suggests @DISEASE$ @PHENOTYPICFEATURE$ in DFNB31-deficient patients.	false
+a3498b5e85e14bbf30f7904fdbab643fcb77978a	Pseudoxanthoma elasticum (PXE) is an autosomal recessive metabolic disorder that results in calcification of elastic fibres of the skin, retina, and arteries, leading to skin lesions, eventual central @PHENOTYPICFEATURE$, and @DISEASE$ arterial insufficiency in most patients.	false
+310ad8ab198c0a93a8104ed8715db64666cd065f	Our results suggest that @DISEASE$ deficiency is not detrimental to the heart in @PHENOTYPICFEATURE$.	false
+ba4a1394fbd00246754f2c2915ae61eae782cf93	We include a discussion of available surgical options, describing our own experience with surgery for @DISEASE$ and the associated postoperative considerations including rates of seizure freedom, considerations for reoperation, and @PHENOTYPICFEATURE$.	false
+a79a22bf6966ee4e04065cb1e22851576b7a5e0b	Echocardiographic parameters of pts with @PHENOTYPICFEATURE$ and biopsy-proved @DISEASE$ or DC did not differ significantly.	false
+3b2045598b0fc23cc9fa2ab52c2d1cdc90887390	Phospho-AKT/total AKT ratio and pathways associated with antiapoptosis, inflammation, insulin resistance, and @PHENOTYPICFEATURE$ were also significantly reduced in NCKD relative to @DISEASE$ tumors.	false
+56edb03d3e8554eebf07a8ef4b930c2b3b84f94a	We sought to examine the relationship between coronary flow reserve (CFR) and myocardial capillary density (@DISEASE$) in patients with idiopathic dilated cardiomyopathy, @PHENOTYPICFEATURE$, and normal coronary arteries.	false
+390a373e15be76ce95db60a7c478f4f860d17bed	We report a case of @PHENOTYPICFEATURE$ in a female patient with @DISEASE$.	false
+781ed1af8c6974908b2f81fe39f29abfb08e2128	However, ~40% of patients with @DISEASE$ deficiency are diagnosed with @PHENOTYPICFEATURE$ during infancy.	false
+f0f0ec3791d114413702b09e7e642477b5cf8c5f	@DISEASE$ is associated with a 2.5% annual major adverse event rate that includes death, nonfatal myocardial infarction, nonfatal stroke, and @PHENOTYPICFEATURE$.	false
+68e3b0cb1d35b7240c1c8158cd476f264bd46820	Macular corneal dystrophy (@DISEASE$) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6.	false
+712f889ef0d86b59788f8d34ece2a68bdaefad17	 ) on glucose metabolism, @PHENOTYPICFEATURE$ and hepatic disease in mice exposed to a high-fat or methionine-choline-deficient (@DISEASE$) diet.	false
+578481db5c0a220d50c6e7957f507f41d2e3ff34	Distinguishing characteristics include @DISEASE$, isolated cleft palate, bilateral lip pits, @PHENOTYPICFEATURE$, normal intelligence, and an autosomal-dominant mode of transmission with a high degree of penetrance.	false
+d9844fdb95f410b79813a6a9f3ab8b275283b249	P = 0.015), controlled for potential confounder factors, such as maternal smoking, maternal @PHENOTYPICFEATURE$, first-degree malformed relatives with @DISEASE$, and maternal treatment with antiepileptics, benzodiazepines, metronidazole, or sex hormones during the first trimester of pregnancy.	false
+f310968270c6aa40499bad3f98028fb11d31b5dc	While patients with @DISEASE$ overexpressing @PHENOTYPICFEATURE$ had more frequent disease recurrence (P = 0.03), NEP overexpression correlated with improved disease-free survival (DFS) (P = 0.023) and less frequent metastasis (P = 0.046).	false
+46b449726b070e9b3c6433917ccb25c520f2037a	[Molecular mechanism of @DISEASE$ and @PHENOTYPICFEATURE$ antigens].	false
+b3167b6ba2eae5a23d815d53ee665d9d93946f25	Vaccination with recoverin, a @DISEASE$ antigen, induces autoimmune retinal dysfunction and @PHENOTYPICFEATURE$ cell regression in mice.	false
+5aa7ed57ad9d1f73e93f9298ec8f4ae0f8121009	Many @PHENOTYPICFEATURE$, not just those producing the clinical picture of @DISEASE$, have been shown to express recoverin.	false
+f475353cd33c83925264fc91f29fcc37e6c87ae0	Recoverin (Rec)-specific CTL present in peripheral blood recognize Rec-expressing @PHENOTYPICFEATURE$ cells of patients with @DISEASE$ (CAR), a paraneoplastic retinopathy syndrome.	false
+407763a351f6b0ef7b7ccc6a8f4c8bbe35927a5f	Recoverin (Rec)-specific CTL present in peripheral blood recognize Rec-expressing @PHENOTYPICFEATURE$ cells of patients with cancer-associated retinopathy (CAR), a @DISEASE$ syndrome.	false
+c3e5054e4974ec9d6795ba4111c5f043b30e12c9	Aberrant expression of recoverin by @PHENOTYPICFEATURE$ cells does not necessarily induce antirecoverin antibodies and @DISEASE$.	false
+baca84761f929e7f5bc55c6b121ea602a2f5a681	Recoverin, a photoreceptor-specific calcium-binding protein, is expressed by the @PHENOTYPICFEATURE$ of a patient with @DISEASE$.	false
+c6acbcafc6029425d78040fad9cd72f939d6dfd8	In humans, autoantibodies originally elicited against recoverin expressed in @PHENOTYPICFEATURE$ cells may damage retinal photoreceptors and play a role in the pathogenesis of @DISEASE$.	false
+960e6b58efe614be280bfcaddaa64af6d0ecac65	Patients with @DISEASE$ syndrome (CAR), a progressive blinding disease related to retinal degeneration and systemic @PHENOTYPICFEATURE$ outside the eye, develop autoantibodies against alpha-enolase.	false
+2a9d2ccc8a636253ff46824423b02642e738fc6f	@DISEASE$ (CAR), a paraneoplastic syndrome, is characterized by the degeneration of retinal photoreceptors under conditions where the @PHENOTYPICFEATURE$ and its metastases have not invaded the eye.	false
+921f51c6045ccb3f046340b9bab95acb1d16b0e0	Serum of patients with small cell carcinoma and @DISEASE$ contains immunoglobulins against several antigens in the retinal and @PHENOTYPICFEATURE$ cells.	false
+c0047e623f8349768f47dd1e8e7b91ac84d0b3dc	Bisphosphonate-associated @PHENOTYPICFEATURE$ of the jaw in patients with @DISEASE$ and breast cancer.	false
+da879f11ab35be0e26a291dc25501a8d69d1c506	Pomalidomide and @DISEASE$ @PHENOTYPICFEATURE$.	false
+078d41a78c545d1e248482fd552296669789c633	Clinical, radiographic, and biochemical characterization of @DISEASE$ patients with @PHENOTYPICFEATURE$ of the jaw.	false
+ec30ea96263dfad33ea311b26ee5b1da1f6bb9dc	[Bisphosphonate-associated @PHENOTYPICFEATURE$ of the jaw in patients with @DISEASE$].	false
+2611d0aed576638573a6d3b8cee608a0b6b775dc	Hyperammonemic @PHENOTYPICFEATURE$ is a rarely reported complication of @DISEASE$ (MM).	false
+516ee083f5db3cc7c9857ced431df96ec4227bf6	Both patients with @DISEASE$ had @PHENOTYPICFEATURE$.	false
+3d35c5e079fdc39d02f2300ea63548bf70d5cea2	Recent data confirm the predisposition of @DISEASE$ patients to develop @PHENOTYPICFEATURE$ of the jaw.	false
+8b4b0641429eb44bcc5bb622fe9fd72b6d652a04	Prevalence of bisphosphonate associated @PHENOTYPICFEATURE$ of the jaws in @DISEASE$ patients.	false
+3a72d51f0e982a4b35e40c1b4c4146e9fd4f77be	Current treatments for bisphosphonate-associated @PHENOTYPICFEATURE$ of the jaw (ONJ) in @DISEASE$ patients have limited efficacy.	false
+88620554ce82572bb6ba4e471d8f33817b8561ab	Myeloma @PHENOTYPICFEATURE$ : a rare presentation of @DISEASE$.	false
+374df17bd3d909cec66e8cd94fa8b8d73eeb1d33	@DISEASE$ @PHENOTYPICFEATURE$ : a rare presentation of multiple myeloma.	false
+78b5f9a9762a2b9f375da656a5d92ceb23fcec1f	@DISEASE$ is a rare, chronic disorder that is characterised by dimorphic features such as microcephaly, intracranial calcification, seizures, @PHENOTYPICFEATURE$, hepatosplenomegaly and coagulation disorders.	false
+61a93a7af5a0c307953ba88cda6da93672d600cb	A case of mitochondrial encephalomyopathy (@DISEASE$) demonstrating bilateral symmetric @PHENOTYPICFEATURE$ is reported.	false
+5ae6137229cc0f437ec2db0b4535850d1b6bdafe	The opportunity of search for GH deficiency in children with @DISEASE$ and @PHENOTYPICFEATURE$ is stressed.	false
+3aa590f505f2f78fc501b9d0e9ae6ca59160a498	A case of @DISEASE$ with @PHENOTYPICFEATURE$, cytochrome oxidase deficiency in muscle fibers, mtDNA deletion and deficient GH responses to stimulation tests is reported.	false
+2ab16a633e3a280d2c01bacebca7d303bada6275	A case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+d255e966e8d044c44e93c030e9d0895ab1c6fed9	The Authors report on a patient with @DISEASE$, large mtDNA deletion (7/kb), @PHENOTYPICFEATURE$ and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations.	false
+342b695ad420a0d1c01179e43483ae2da60a2fdb	The authors report on a patient with mild cranio-@PHENOTYPICFEATURE$ observed at birth and growth hormone deficiency, which later developed a typical @DISEASE$.	false
+df85ae0c0554d91ba4679a8b6bbbd63e42ccf651	@PHENOTYPICFEATURE$ in patients with @DISEASE$ from Northeast Brazil.	false
+116e4f0645556021f9970dba3b81e396cb0d095a	The risks associated with @DISEASE$, @PHENOTYPICFEATURE$, rubella, herpes, meningococcal disease, and scabies are generally acknowledged and methods of control have been suggested.	false
+545aee0b1a6dcda8d7010f47bebd492c60983540	Two of the siblings, sibling 1 and sibling 3, presented with cervical deep abscess and cervical @DISEASE$ @PHENOTYPICFEATURE$, respectively.	false
+2d3011f9abcc547527534179968d62cebaac7b5d	We report a patient with @DISEASE$ treated with a five-drug regimen who experienced severe acid-base and electrolyte abnormalities including hypomagnesemia, hypokalemia, @PHENOTYPICFEATURE$, and a hypochloremic metabolic alkalosis.	false
+d9cef470a11329ef6e2b130880359a56be65f2a3	We report a patient with @DISEASE$ treated with a five-drug regimen who experienced severe acid-base and electrolyte abnormalities including hypomagnesemia, @PHENOTYPICFEATURE$, hypocalcemia, and a hypochloremic metabolic alkalosis.	false
+52ce0c3832c02734217cf0ccd0a9b6abe8e64be6	@DISEASE$ with meningitis, myeloradiculitis, arachnoiditis and @PHENOTYPICFEATURE$: a case report.	false
+ba74c9aaa4a3f3d4eb712e4a36fb318a80db1257	In addition, they anticipated that the prevalence of @PHENOTYPICFEATURE$ assessments would increase with antiretroviral therapy (ART) use and treatment for @DISEASE$ (TB).	false
+da6219c6a81b4ace6c5f3e64baeced373cdc55cb	@DISEASE$ is a systemic disease, with cervical @PHENOTYPICFEATURE$ of the head and neck being the most common extrapulmonary manifestation of the disease.	false
+834585dcb5f923705a80b99eb0e0f5f9620b5307	[Surgical treatment of @DISEASE$ patients with @PHENOTYPICFEATURE$].	false
+ef00a9b9f7e3ff90b191e8762f94a42ad1ccff07	Addressing social determinants of health in the prevention and control of HIV/AIDS, @PHENOTYPICFEATURE$, sexually transmitted infections, and @DISEASE$.	false
+f054866c1b422e80df35db41bfb077ae369be522	Serologic abnormalities in systemic lupus erythematosus associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dd3c20535a80fa868d523dc05b2431ba8a0588a3	In the last few years, insight into their endogenous roles has come from two rare diseases: @DISEASE$, caused by mutations in CMG2, and growth retardation, alopecia, pseudo-anodontia, and @PHENOTYPICFEATURE$ (GAPO) syndrome, caused by loss-of-function mutations in TEM8.	false
+f7603bfb9d181d3d96defe2e8936804912ae18c4	We describe the outcome of a 5-year-old girl with @DISEASE$ who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, @PHENOTYPICFEATURE$, and hypotonia.	false
+792d0dc86eb12988039d63eb062a09551a500ad8	Advanced imaging techniques, in particular multiplanar MRI, are also increasingly requested in children with known congenital scoliosis associated with @PHENOTYPICFEATURE$ and developmental causes of scoliosis such as neurofibromatosis and @DISEASE$, as it allows superior delineation of the spinal column without the radiation risk.	false
+997cbcadbf3b80430c2670da0d4eac98c3ddb0c8	Fraser syndrome (cryptophthalmos [@DISEASE$ eye]-@PHENOTYPICFEATURE$ syndrome).	false
+0ee179e9da785fcea407bb37fb52d2e67df13c70	In the spine, odontoid apophysis aplasia was found with no ossification nucleus, vertebrae with central hump, disk protrusions, hypertrophy of the posterior common vertebral ligament, and @DISEASE$ @PHENOTYPICFEATURE$ at the S4 level.	false
+d8dd74e48dc1b0522301fb1e800ed631c08a8a04	To determine the reliability of radiological interpretation in the diagnosis of @DISEASE$ and to evaluate the most typical @PHENOTYPICFEATURE$.	false
+231409718b17f10bb139197a8ab345cab9608b00	Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting @PHENOTYPICFEATURE$ which suggested @DISEASE$.	false
+0120e152fd06c51e31e1a60c40736c16240dc10a	FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, @DISEASE$ and @PHENOTYPICFEATURE$ and review of the literature.	false
+7036b870d87c014289b6ae32b555bfe62ff3efbc	In most cases of @DISEASE$ there is an underlying genetic disorder that leads to overproduction of interleukin-1? (IL-1?); therefore, typical symptoms include inflammation reactions, such as repeated skin rash, fatigue, @PHENOTYPICFEATURE$, joint pain and conjunctivitis.	false
+91dede19a5b2111b8da6312ea0b405c7c4ca87ee	This retrospective claims-data analysis compared health services utilization and payments in a population of patients receiving either @DISEASE$ or CMM for treatment of cancer @PHENOTYPICFEATURE$.	false
+c2b5e242b9126841faaafbeedbb2f66292530ca9	Intrathecal drug delivery (@DISEASE$) continues to gain relevance as a beneficial tool for the treatment of cancer @PHENOTYPICFEATURE$, spasticity, and chronic nonmalignant pain.	false
+bc175da57773f6ed9321e860e92d1de052227c9d	Serum concentration of prohepcidin is related to the @PHENOTYPICFEATURE$ status, rather than to the current status of H. pylori infection, in @DISEASE$ patients.	false
+9f4bd0ad5be388db5d53289354fbe64eb3014020	The decreased threshold level of DPOAE at 4 kHz in @DISEASE$ patients should relate to @PHENOTYPICFEATURE$ directly.	false
+c6ad2a88c52ca0caf73ea56795979e2040aa2474	UBE2A deficiency is a syndromic condition of X-linked intellectual disability (@DISEASE$) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, @PHENOTYPICFEATURE$, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy.	false
+d8b681ec2dfa629f102990920ca1394fcc795825	Pregnant women having combined prevalence of IDD and anemia, @DISEASE$ and VAD, and VAD and @PHENOTYPICFEATURE$ was 15.1%, 0.18% and 2.69%, respecively.	false
+3d97c64a9e0ad15b675bc44b5fedc159749a7334	Pregnant women having combined prevalence of @DISEASE$ and anemia, IDD and VAD, and VAD and @PHENOTYPICFEATURE$ was 15.1%, 0.18% and 2.69%, respecively.	false
+68ce88dbc594f9061c1ac695e6932aa4a785b287	Patients with complete deletion of the @DISEASE$ locus often have atypical phenotypes including @PHENOTYPICFEATURE$, obstructive sleep apnoea, and the occurrence of seizures.	false
+cafb2240f108676347d56d63d87090dedf17a8c7	Also in terms of both CHr and CHCMr (Corpuscular mean hemoglobin concentration of reticulocyte), there is a statistically significant difference between controls and IDA; controls and mixed @PHENOTYPICFEATURE$; IDA and mixed anemia; @DISEASE$ and vitamin B12 deficiency anemia.	false
+78e498f933fe07b2c2ab344eb63ef1b530723a65	Also in terms of both CHr and CHCMr (Corpuscular mean hemoglobin concentration of reticulocyte), there is a statistically significant difference between controls and IDA; controls and mixed anemia; IDA and mixed @PHENOTYPICFEATURE$; @DISEASE$ and vitamin B12 deficiency anemia.	false
+5c75a0cf404604ed282553a2cb49ca666ed1be34	Also in terms of both CHr and CHCMr (Corpuscular mean hemoglobin concentration of reticulocyte), there is a statistically significant difference between controls and IDA; controls and mixed anemia; @DISEASE$ and mixed @PHENOTYPICFEATURE$; IDA and vitamin B12 deficiency anemia.	false
+caac77096bfb89dc5d361b524039947f7d536fb0	Also in terms of both CHr and CHCMr (Corpuscular mean hemoglobin concentration of reticulocyte), there is a statistically significant difference between controls and IDA; controls and mixed @PHENOTYPICFEATURE$; @DISEASE$ and mixed anemia; IDA and vitamin B12 deficiency anemia.	false
+ebc72d8079f7529ff9a80cc45876c5102f50e19f	There is a statistically significant difference of both MCV (mean corpuscular volume)/MCVr (Reticulocyte mean corpuscular volume) ratio and MCVr between IDA and controls; in controls and vitamin B12 deficiency anemia; in controls and mixed @PHENOTYPICFEATURE$; in IDA and vitamin B12 deficiency anemia; in @DISEASE$ and mixed anemia.	false
+7de6b162f3e1d70c48f2e7a805382aef9db92c7e	There is a statistically significant difference of both MCV (mean corpuscular volume)/MCVr (Reticulocyte mean corpuscular volume) ratio and MCVr between IDA and controls; in controls and vitamin B12 deficiency anemia; in controls and mixed @PHENOTYPICFEATURE$; in @DISEASE$ and vitamin B12 deficiency anemia; in IDA and mixed anemia.	false
+7a899a156e79443fc174d4c9321a5b19a3c001c7	Intrathecal drug delivery (@DISEASE$) and spinal cord stimulator (SCS) systems are implantable devices for the management of both chronic and cancer @PHENOTYPICFEATURE$.	false
+65187787be4ce07d0d5c4b52458c6be2634bdb93	We have used the appendix as a biliary conduit for cases of @PHENOTYPICFEATURE$ and choledochal cyst, adapting the urologic technique of a tunneled, nonrefluxing anastomosis for reconstruction of the biliary tree--biliary appendico-duodenostomy (@DISEASE$).	false
+ef4bd73717d2e1a848c5e61945087698b7a7ed17	@PHENOTYPICFEATURE$ of the bladder and a cardiac fibrous hamartoma have been reported previously in association with @DISEASE$.	false
+304cf49dce7f9c9307c06060df72966af9460ce5	To the best of our knowledge, this is the first reported case of liver transplantation in a patient with @DISEASE$ as definitive treatment for unresectable mesenchymal liver @PHENOTYPICFEATURE$.	false
+005e23682aac1cfd31b51d8bc3720b366166c9f0	Nesidioblastosis and mixed @PHENOTYPICFEATURE$ of the liver in @DISEASE$: case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting.	false
+6e38d92c4eba70e521fb0bc2cc606681c4eb249d	A girl born with a left chest wall @PHENOTYPICFEATURE$, macroglossia, nevus flammeus of the middle forehead, and a small umbilical hernia developed left lower extremity hemihypertrophy by 1 year of age and is assumed to have @DISEASE$.	false
+74dfbbd75fcc83d78e5e9bccdd6c3dba3cc8b56a	An infant with persistent hyperinsulinemic hypoglycemia, diffuse nesidioblastosis, and mixed @PHENOTYPICFEATURE$ of the liver (MHL), in addition to demonstrating clinical, pathologic, and molecular manifestations of Beckwith-Wiedemann syndrome (@DISEASE$), is the subject of this report.	false
+91b662a9d74bb0d89099eac8351a8f9136e23e53	An infant with persistent hyperinsulinemic hypoglycemia, diffuse nesidioblastosis, and mixed @PHENOTYPICFEATURE$ of the liver (MHL), in addition to demonstrating clinical, pathologic, and molecular manifestations of @DISEASE$ (BWS), is the subject of this report.	false
+2c432fc9bcfa8d807f2d710b6a15d78369a9f4d8	Chest wall @PHENOTYPICFEATURE$ with @DISEASE$: clinical report and brief review of chromosome 11p15.5-related	false
+6e04677030660c7e967d9053ac3e76853e008f9d	Liver transplantation as definitive treatment of an unresectable mesenchymal @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+9bb194db5802ad685382c8bdeab8cdaad3d9f892	However, the patient presented further clinical findings not typically associated with @DISEASE$, including nesidioblastosis, fibroadenoma, @PHENOTYPICFEATURE$ of the liver, hypoglycaemia and ovarian steroid cell tumour.	false
+50854b77095b034e78972c203a6a4cb1300018c4	@PHENOTYPICFEATURE$ of the urinary bladder in an infant with @DISEASE$.	false
+56a62c3994607f9b9dc4c2600401a2c8881fdb55	Mesenchymal @PHENOTYPICFEATURE$ of the liver associated with features of @DISEASE$ and high serum alpha-fetoprotein levels.	false
+088ea1a5d0ea3b1f80afee8e466251a5a3ffc0d9	Spinal cord stimulation has been utilized for decades in the treatment of numerous conditions such as failed back surgery and phantom limb syndromes, @DISEASE$, cancer @PHENOTYPICFEATURE$, and others.	false
+2794d4fce27575686870dfb7f4161d78fb408f15	The recovery of @PHENOTYPICFEATURE$ and tinnitus after release of arachnoid adhesions may indicate the clinical significance of these adhesions or @DISEASE$, which should also be considered and investigated in the etiology of other neurotological diseases.	false
+8a5795ca67d72b83652d860a798473995a5da5af	LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, @DISEASE$, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, myoadenylate deaminase deficiency, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich @PHENOTYPICFEATURE$.	false
+75ddf464857720a13a19e127e4affa430bc2195c	Several forms of pathologies, referred to as Yakut hereditary diseases, have been distinguished on the basis of the results of genetic epidemiological studies of Mendelian diseases in the population of the Republic of Sakha (Yakutia): spinocerebellar @PHENOTYPICFEATURE$ type I, myotonic dystrophy, @DISEASE$, hereditary enzymopenic methemoglobinemia, and 3-M syndrome.	false
+f99f7b8d8bb2336e708a9aa8d81bff429bac64dc	The growing list ofneurodegenerative and neuromuscular diseases caused by dynamic mutations includes Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), a number of spinocerebellar ataxias (SCAs), @DISEASE$ (OPMD), myotonic dystrophy Type 1 and 2 (DM1 and 2), Huntington's disease-like 2 (HDL-2), Friedrich's @PHENOTYPICFEATURE$ (FRDA), Fragile X associated tremor ataxia syndrome (FXTAS), Fragile XE (FRAXE) and Fragile XA (FRAXA).	false
+cfcd8fec0a740693af3cea9726db0fd80060a41a	The growing list ofneurodegenerative and neuromuscular diseases caused by dynamic mutations includes Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), a number of spinocerebellar ataxias (SCAs), oculopharyngeal muscular dystrophy (@DISEASE$), myotonic dystrophy Type 1 and 2 (DM1 and 2), Huntington's disease-like 2 (HDL-2), Friedrich's @PHENOTYPICFEATURE$ (FRDA), Fragile X associated tremor ataxia syndrome (FXTAS), Fragile XE (FRAXE) and Fragile XA (FRAXA).	false
+71557c5bb60594eca88cbb796c04da8e38932ce2	About 20% of patients with @DISEASE$ (FHM) develop progressive @PHENOTYPICFEATURE$.	false
+6ffcdcf9bacfcd8b5717989e2076682a5557ba1b	About 20% of patients with familial hemiplegic migraine (@DISEASE$) develop progressive @PHENOTYPICFEATURE$.	false
+f2c2fc3da3ba21a66a0de417bdfcea4b0754869a	Several other neurological signs and symptoms can be associated with @DISEASE$ such as @PHENOTYPICFEATURE$, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation.	false
+f46a89151cb17a3058eab66220276ada36dda213	Mutations in the neuronal voltage-gated sodium channel SCN1A are associated with a growing number of disorders including generalized epilepsy with febrile seizures plus (GEFS+),(7) severe @PHENOTYPICFEATURE$ epilepsy of infancy, and @DISEASE$.	false
+9eb56b355de283cb81dca65e53a96fea1324f176	Under light microscope, the @PHENOTYPICFEATURE$ cells exposed to 0.3 mmol/L ATP or ADO displayed morphological changes of apoptosis; a ladder-like pattern of DNA fragmentation obtained from HGC-27 cells treated with 0.1-1 mmol/L ATP or ADO appeared in agarose gel electrophoresis; ATP and @DISEASE$ induced the apoptosis of HGC-27 cells in a dose-dependent manner at concentrations between 0.03-1 mmol/L.	false
+7d92781a30f8f966af3561dd7833d5f1b62b5642	Under light microscope, the @PHENOTYPICFEATURE$ cells exposed to 0.3 mmol/L ATP or @DISEASE$ displayed morphological changes of apoptosis; a ladder-like pattern of DNA fragmentation obtained from HGC-27 cells treated with 0.1-1 mmol/L ATP or ADO appeared in agarose gel electrophoresis; ATP and ADO induced the apoptosis of HGC-27 cells in a dose-dependent manner at concentrations between 0.03-1 mmol/L.	false
+3fd07b3beeaf2b4645917311517dc298684b3cd3	In addition, @DISEASE$ can directly stimulate @PHENOTYPICFEATURE$ proliferation and angiogenesis.	false
+4fd39805643a724ef4495665e0cc6e3de2397bd9	Recent studies have also identified that @DISEASE$ pathway plays a critical role in @PHENOTYPICFEATURE$ immune surveillance, especially for some non-solid cancers.	false
+d53522341642a52ec9ca6bac0c1aa2190a3918dd	Acrodysostosis (@DISEASE$) refers to a heterogeneous group of rare @PHENOTYPICFEATURE$ that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia.	false
+3bf4ff0222e792123d8c813d29258e4149837512	Hypoxia- driven @DISEASE$ accumulation in the tumor microenvironment thus plays a critical role in @PHENOTYPICFEATURE$ growth and progression at multiple pathophysiological levels.	false
+fac80b2659d292479a90cec8f30466ae322d2c54	Hypoxia- driven @DISEASE$ accumulation in the @PHENOTYPICFEATURE$ microenvironment thus plays a critical role in tumor growth and progression at multiple pathophysiological levels.	false
+5a6b1eb64d05f633f12e8bf1104bbb56249b33c1	By studying the bioenergetic status we could show that the development of @PHENOTYPICFEATURE$ hypoxia is accompanied, apart from myriad other biologically relevant effects, by a substantial accumulation of adenosine (@DISEASE$).	false
+a24e9789711c9c15b33846c36bdbe62442a9b39d	The tumor microenvironment contains high levels of adenosine (@DISEASE$) generated by this enzymatic network, thus promoting @PHENOTYPICFEATURE$ growth by inhibiting anti-tumor immune responses.	false
+ebfa242f525ea708784ee56cc82a27d5bd74bacc	The @PHENOTYPICFEATURE$ microenvironment contains high levels of adenosine (@DISEASE$) generated by this enzymatic network, thus promoting tumor growth by inhibiting anti-tumor immune responses.	false
+f05e75b5fcc5ab3f0311bfebff5577e0de73e076	In patients with HNSCC, reduced expression of @DISEASE$ may contribute to excessive inflammation and @PHENOTYPICFEATURE$ growth.	false
+ebb8c0e39e52e767c524e1b4c3038331887d5006	@DISEASE$ has been shown to act as a strong immunosuppressive agent in @PHENOTYPICFEATURE$ by modulating the innate and adaptive immune system.	false
+5cac1b4a4d94fb8bab646faa47ab924afdcdf427	Under light microscope, the @PHENOTYPICFEATURE$ cells exposed to 0.3 mmol/L ATP or @DISEASE$ displayed morphological changes of apoptosis.	false
+ca48cd34c348e7c3a32b39c35684f132de020eb4	With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ABCG2) were associated with thrombocytopenia, nausea and neutropenia, whereas SNPs in the DNA repair pathway genes ERCC4 and @DISEASE$ were significantly associated with neutropenia and @PHENOTYPICFEATURE$, respectively.	false
+d4cc6ef314c4f7e438ce0b9b598383944c61bde6	The @PHENOTYPICFEATURE$ in patient XP21BE may be related to close consanguinity and simultaneous inheritance of other recessive genes or other gene modifying effects rather than the influence of @DISEASE$ gene itself.	false
+14e5631664e8bc1403d7aa0a83a22320b2068e8d	The sign also may be observed in many acquired conditions, include inflammatory and infectious diseases (allergic bronchopulmonary aspergillosis, broncholithiasis, and foreign body aspiration), benign neoplastic processes (bronchial @PHENOTYPICFEATURE$, lipoma, and papillomatosis), and malignancies (bronchogenic carcinoma, @DISEASE$, and metastases).	false
+54b3dbb6c91ad529b6ef04a15fe163cb9f10bfe5	All ten nodules were successfully resected, including @PHENOTYPICFEATURE$ (n = 1), @DISEASE$ (n = 2), granulomas (n = 3), adenocarcinoma (n = 1), fibrosis (n = 1), benign metastasizing leiomyoma (n = 1), and lymphoma (n = 1).	false
+ddb04883f383968ddbf35744bc80c7893c89f4dc	These have included 74 cases of @DISEASE$ tumour of the bronchus and 38 cases of @PHENOTYPICFEATURE$.	false
+7d4405b5b1f4fb34a9a240cf52b007e4f62df46e	Pulmonary neoplasms may be benign such as papilloma, @PHENOTYPICFEATURE$, and bronchial @DISEASE$ (low-grade malignancy), or they may be malignant as in sarcoma, carcinoma, and pulmonary blastoma.	false
+02c3304af6b3d73e8acf49b6d6e79676b31a6ba6	Histopathology: @PHENOTYPICFEATURE$: 11; fibrous nodule: 10; bronchiolitis obliterans: 1; pneumoconiosis: 1; mesenchymal tumor: 3; inflammatory pseudotumor: 14; mucormycosis: 1; tuberculoma:17; lymphoma: 1; @DISEASE$: 6; metastasis: 22; bronchogenic carcinoma: 95.	false
+7160ac988f1e841a098b130a353ab144af7d5720	This paper presents some uncommon thoracic lesions, including thymoma, pulmonary @PHENOTYPICFEATURE$, pulmonary pseudolymphoma, typical @DISEASE$, and spindle cell carcinoid mimicking oat cell carcinoma.	false
+52dcf951ef2110866ee9f8ad7d558d354f79f711	Histopathological examination of 7 bronchial masses revealed @DISEASE$ (2 typical, 1 atypical), inflammatory myofibroblastic tumor (1), mucoepidermoid carcinoma (1), @PHENOTYPICFEATURE$ (1), and synovial cell sarcoma (1).	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+6817eb9d055987b7e0e7b258541ec2f69b3ce68c	Etiologies of hepatic dysfunction included @PHENOTYPICFEATURE$ (n=5; 24%), cryptogenic cirrhosis (n=4; 19%), portal or hepatic vein thrombosis (n=4, 14%), @DISEASE$ (n=3; 14%), primary sclerosing cholangitis (n=2; 10%) and others (n=3, 14%).	false
+df3bef9553af00fd68df423c7789acdb51e83048	A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and dental abnormalities.	false
+74ac50cd578a1ec70e8b443f6f4d09b9809255f2	A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, @PHENOTYPICFEATURE$, dysmorphic facial features, @DISEASE$, and dental abnormalities.	false
+cf58d290db11e3ce86db92233a10d91f8bbdd54d	A brother and sister from the island of Rodrigues had mental retardation, @PHENOTYPICFEATURE$ owing to severe ocular malformations, short stature, dysmorphic facial features, @DISEASE$, and dental abnormalities.	false
+5b37600cd2bac96981eb927579b2a2f201ee6a89	It is characterized by a partial or complete absence of sweat glands, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7798563bef7ab309e674524c045486f5990cc802	It is characterized by @DISEASE$, hypohidrosis and @PHENOTYPICFEATURE$.	false
+b9f4cdc5962b109d01ff955983051493cbf00593	Clinically, XHED is characterized by @DISEASE$, hypohidrosis and @PHENOTYPICFEATURE$.	false
+a9bbcb587b023fae0824826ca488ab1f23d3b355	[Ectodermal dysplasia with hypohidrosis, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+e50fece88c6a4622c004e177d41466fa3c674f1b	Short stature, onychodysplasia, @PHENOTYPICFEATURE$, and @DISEASE$ syndrome is caused by a POC1A mutation.	false
+7713895f50629edc0146068254ccfde6c04f1e93	@PHENOTYPICFEATURE$, onychodysplasia, facial dysmorphism, and @DISEASE$ syndrome is caused by a POC1A mutation.	false
+6c3139995624222d5bbef3e6ae5628a42b84e124	Eyelid cysts, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dde45f2d0cfe958817c70d26bd7e9f259cda1d88	[Hereditary ectodermal dysplasia with anhidrosis, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+9e50383d12e5be135846c1b52a149293eb54fea9	The common clinical findings include @PHENOTYPICFEATURE$, hypohydrosis, @DISEASE$, and onychodysplasia.	false
+7dfd531b1de63e4a904038b4b99bd7ddc3abac6d	Hereditary @DISEASE$ (Marie-Unna type) and juvenile @PHENOTYPICFEATURE$ (Stargardt's maculopathy).	false
+956a3d1d03049f1a66dd8434491fba182c621a73	Neural tube defect and microcephaly associated with maternal cabergoline use; Down syndrome and @PHENOTYPICFEATURE$ associated with maternal bromocriptine use; unilateral congenital cataract, craniosynostosis and microcephaly associated with maternal @DISEASE$ were detected for the first time.	false
+640661ebbf4c72d7767c2ec0d65a28b764ba15a7	We performed cytogenetic profiling of pituitary adenomas obtained from 39 patients with @DISEASE$ and four patients with @PHENOTYPICFEATURE$ gigantism by using array comparative genomic hybridization analysis.	false
+f51fc67a6aacf93a55b6576e1e5f826dcdbac299	We detected chromothripsis-related CNA profiles in two adenoma samples from an AIP mutation-positive patient with @DISEASE$ and a patient with @PHENOTYPICFEATURE$ gigantism.	false
+971840107b08c8cd7dde7435a34aee0a30ba0a73	The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, @PHENOTYPICFEATURE$, dysmorphic features, and @DISEASE$.	false
+a0db694cb2e096ff3aeb5d2b5e92e7065de4eb14	Peripartum cardiomyopathy (PPCM) is an idiopathic cardiomyopathy presenting with heart failure (HF) secondary to @PHENOTYPICFEATURE$ towards the end of pregnancy or in the months following delivery, where no other cause of @DISEASE$ is found.	false
+9a1e1eca795f6abce987138056bfe5ea89a897e1	In the short stature group, Coffin-Lowry syndrome (CLS), @DISEASE$, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 Meier-Gorlin syndrome were identified.	false
+9da4ffc8a6d39f772cca17683e60e4c85e55f2c2	We describe here a patient with ichthyosis, keratitis, @PHENOTYPICFEATURE$, and recalcitrant cutaneous bacterial and fungal infections, who was previously described as having hereditary @DISEASE$.	false
+908c24adba9bd2ce203f222244a8bdb4f5a60b57	C-hydroxyephedrine (@DISEASE$) positron emission tomography (PET) in patients with @PHENOTYPICFEATURE$ with preserved left ventricular ejection fraction (HFpEF).	false
+4ad5c99a54d58ef9bd447988ce90619924c77c8c	Offering large portions of high energy dense (@DISEASE$) foods increases overall energy intake in children, a potentially important contributing factor to childhood overweight and @PHENOTYPICFEATURE$.	false
+7059cae011219a2d679453efdce6e3e9ad7ff6e6	We evaluated the variation of cardiac adrenergic activity in patients with idiopathic @PHENOTYPICFEATURE$ (IHF) disease (NYHA III-IV) after CRT using (11)C-hydroxyephedrine (@DISEASE$) PET/CT.	false
+d63604ec1cd4e24b77c5a59e535e54766099401d	The rats with @DISEASE$ diet developed @PHENOTYPICFEATURE$ until week 13 of treatment.	false
+46f116d0996bc36808b2e21ac5b2a066ea37bf04	We determined the clinical-epidemiological characteristics and prognostic factors of early mortality and re-consultation in an elderly population attending the hospital emergency department (@DISEASE$) for acute @PHENOTYPICFEATURE$ (AHF).	false
+cc23d04e0f463c94b5601465e1c8d1361238c902	@DISEASE$, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and @PHENOTYPICFEATURE$.	false
+b8b77b578f710fa5fe6244dcb55023ff385fa658	We found substantially greater achievement of childhood @PHENOTYPICFEATURE$ @DISEASE$ measures in the CDS arm (adjusted odds ratio, 2.28 [95% CI, 1.15-4.53])	false
+07397b4561052c5b2d96bb98a2959240afe9aa88	This review describes the mechanism of action, radiosynthesis, and application of @DISEASE$ in the assessment of the cardiac sympathetic nervous system in @PHENOTYPICFEATURE$, myocardial infarction, and arrhythmias.	false
+2a5a2a100c2b3b11233d0fe8b9100e9a4bcee3a4	A syndrome of @DISEASE$ with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and @PHENOTYPICFEATURE$, bilateral nuclear cataract, and other signs.	false
+f00c0fb7f4b56548884930cc30f7575e040accba	Diagnosis of children with @DISEASE$ included essential tremor (n=7), Tourette syndrome (n=5), primary dystonia (n=2), chronic motor tics (n=2), viral cerebellar ataxia (n=2), drug-induced @PHENOTYPICFEATURE$ (n=1), thyrotoxicosis related tremor (n=1), autosomal inherited dystonia (n=1), poststreptococcal chorea (n=1), and benign head tremor (n=1).	false
+4f684bab8b712e269035782f0713b10c97922654	Diagnosis of children with @DISEASE$ included essential tremor (n=7), Tourette syndrome (n=5), primary dystonia (n=2), chronic motor tics (n=2), viral @PHENOTYPICFEATURE$ (n=2), drug-induced ataxia (n=1), thyrotoxicosis related tremor (n=1), autosomal inherited dystonia (n=1), poststreptococcal chorea (n=1), and benign head tremor (n=1).	false
+351698753c7d79304db66cc06513b42db5260659	While IUGR is probably associated with trisomy 16 mosaicism, @PHENOTYPICFEATURE$ is more characteristic for @DISEASE$( 16).	false
+5da6687ae82a037659b532767eba6d35d04903a8	Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as @DISEASE$) that include short stature, @PHENOTYPICFEATURE$, and heterotopic calcifications.	false
+590c112d2493de3c5ab70b2aeec1a0a2133d6084	We suggest that the morphologic phenotype found in patients with pseudopseudohypoparathyroidism, also known as @DISEASE$, has an associated risk for spinal cord compression due to congenital @PHENOTYPICFEATURE$.	false
+9b03d9395907def3b3fcd2e500afefc7a21a1761	Cowden syndrome (CS) and @DISEASE$ (BZS) are two inherited @PHENOTYPICFEATURE$ syndromes characterized by distinct phenotypic features.	false
+af230e3f4d1d5388771bc67b6a700a7fd0bf42af	Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) are autosomal dominant @PHENOTYPICFEATURE$ syndromes.	false
+ad43d883067c9ad588896c2f527163ae5998360e	Cowden syndrome (CS) and @DISEASE$ (BRRS) are autosomal dominant @PHENOTYPICFEATURE$ syndromes.	false
+6b391603e5261cc5fce0d2b66e74808bc6e2b5d0	Mutation spectrum and genotype-phenotype analyses in Cowden disease and @DISEASE$, two @PHENOTYPICFEATURE$ syndromes with germline PTEN mutation.	false
+017984f3b2be044912e49941003f9a906945cc09	@DISEASE$ is a inheritable autosomal dominant association of @PHENOTYPICFEATURE$ (usually hemangioma and lipoma) and macrocephaly with other inconstant features.	false
+ba6883b7edde0cfb4038e2ffe00da20ea880337a	Germline mutations in PTEN, that encodes a dual-specificity phosphatase, have been implicated in two @PHENOTYPICFEATURE$-tumor syndromes that exhibit some clinical overlap, Cowden syndrome and @DISEASE$.	false
+0a9ff658eaba5ea3196d9df3316d673ccfdaa5f7	Germline mutations in the tumour suppressor gene PTEN have been implicated in two @PHENOTYPICFEATURE$ syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and @DISEASE$ (BRR).	false
+ffd8c6e7c98394494736fa8265286ecd2bf6d9a4	Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+00a09681ca4d727a618070325ae5990b77b472f1	Cowden syndrome (CS), @DISEASE$ (BRRS) and proteus syndrome are disorders known as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations.	false
+39ff67c622ba5f22bb99da707cdbca903eff2d2b	Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) is a rare autosomal, dominantly-inherited, @PHENOTYPICFEATURE$ syndrome with distinct phenotypic features.	false
+e4711d0f9933f60c96e284e2b31a080f3c974f8e	@DISEASE$ (BRRS) is a rare autosomal, dominantly-inherited, @PHENOTYPICFEATURE$ syndrome with distinct phenotypic features.	false
+d7d370df37b51dfa48c3cf2c90b1729e7d54862b	Germline mutations in PTEN cause Cowden syndrome and @DISEASE$, which are hereditary @PHENOTYPICFEATURE$ syndromes.	false
+03ffa88cc5b306cd40ab7d2dbc68bfef8525bf9d	JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited @PHENOTYPICFEATURE$ syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (@DISEASE$) and Cowden syndrome (CS).	false
+bfc0a9bd624c055075640db5e75f13b4cf29d887	JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were identified, JPS could easily be confused with other inherited @PHENOTYPICFEATURE$ syndromes, such as @DISEASE$ (BRRS) and Cowden syndrome (CS).	false
+c4c54fc148bb0112ec6ecf7ba5f5c6dc8676f015	Our studies also found NSD1 expression to be profound in human fetal brain and cerebellum, accounting for prenatal onset and @PHENOTYPICFEATURE$ vermis seen in @DISEASE$.	false
+e86c4d980cf5436eaaa31ff4b4eb0d001eba9c46	Seven of 68 patients with @PHENOTYPICFEATURE$ or mixed mitral valve disease had @DISEASE$.	false
+804b28732f291e3ce04e2cc026fc880cbdcdf321	Whether lifestyle changes shown to reduce @DISEASE$ risk (i.e., @PHENOTYPICFEATURE$, exercise, cholesterol reduction, etc.) can reduce PCa risk, warrants further study.	false
+14027c68dfda9c31942a7a8928e0a8fb114bfb7b	Animal models of @PHENOTYPICFEATURE$ (CHL) show altered structure and function in the central auditory system (@DISEASE$), particularly following unilateral deprivation.	false
+a2b9f545a81a093e89bd0c32afd9fe680c88813b	One-year total disease-specific medical costs were highest for arrhythmias, osteoarthritis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c2507ccc076045424127d7a49d48ffe3503ed685	To validate a new computer-aided diagnosis (@DISEASE$) imaging program for the assessment of nuclear @PHENOTYPICFEATURE$.	false
+63113eefc1ca472d08a387a026a37401ae13571f	Self-management interventions targeting cardiac pain in women compared with a control population reduced (1) cardiac pain frequency and cardiac @PHENOTYPICFEATURE$ proportion (obstructive and nonobstructive @DISEASE$), (2) fatigue at 12 months, and (3) dyspnea at 2 months.	false
+a8969d587a257b70c49cfb97e9d23ff606bd8c44	Self-management interventions targeting cardiac pain in women compared with a control population reduced (1) cardiac @PHENOTYPICFEATURE$ frequency and cardiac pain proportion (obstructive and nonobstructive @DISEASE$), (2) fatigue at 12 months, and (3) dyspnea at 2 months.	false
+52946dd31a32bce99842c5aefd557ce290b2cd5d	Self-management interventions targeting cardiac @PHENOTYPICFEATURE$ in women compared with a control population reduced (1) cardiac pain frequency and cardiac pain proportion (obstructive and nonobstructive @DISEASE$), (2) fatigue at 12 months, and (3) dyspnea at 2 months.	false
+8e40a397eb630ffd6a8c95e18705c62932937305	Real-time cerebral oximetry with near-infrared spectroscopy (NIRS) could detect episodes of cerebral @PHENOTYPICFEATURE$ due to vasospasm and facilitate intervention for prevention of hypoxic brain injury during neuro-intervention procedures such as @DISEASE$.	false
+f3cd5f7cfa3d398d8c73e0eaa7aa443432270b2a	The relation was independent of other risk factors, supporting the inclusion of @PHENOTYPICFEATURE$ and CKD in global risk assessment for patients with suspected @DISEASE$.	false
+a3b251c10e9bdc331aa120f5e9ab3f57a9c104f9	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and specific lesions.	false
+f715d9048063df813602165970e1c8890313443e	Thus, careful attention is needed for these patients during the perioperative period, and immediate evaluation and management are required for patients with post-@DISEASE$ @PHENOTYPICFEATURE$.	false
+0d5850670bdfb6ade97d4596bf4c2f6eb8d7bab7	(1) Sodium channelopathies: familial generalized epilepsy with @PHENOTYPICFEATURE$ plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, @DISEASE$; (3) calcium channelopathies: episodic ataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine, hypokalemic periodic paralysis, central core disease, malignant hyperthermia syndrome, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia.	false
+a1c5d4a7bc77205d5e8a8a2b2a8931cdc5a8f70d	Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with @PHENOTYPICFEATURE$, autosomal dominant nocturnal frontal lobe epilepsy, benign familial neonatal convulsions and @DISEASE$ with partial seizures) have been identified, shedding new light on the pathophysiology of epilepsy as these diseases are caused by ion channel mutations.	false
+1f8272a54d19bb3b6a5d7453e81607166091abf3	An increasing number of epileptic syndromes belongs to this group of rare disorders: Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in a neuronal nicotinic acetylcholine receptor (affected genes: CHRNA4, CHRNB2), benign familial neonatal convulsions by mutations in potassium channels constituting the M-current (KCNQ2, KCNQ3), generalized epilepsy with @PHENOTYPICFEATURE$ plus by mutations in subunits of the voltage-gated sodium channel or the GABA(A) receptor (SCN1B, SCN1A, GABRG2), and @DISEASE$-which is associated with epilepsy in a few patients--by mutations within another voltage-gated potassium channel (KCNA1).	false
+513263c00b81af3ebfd61c1ccd9e09380c19eb7d	In this group of patients, 10 had @DISEASE$ and 6 had hypothalamic @PHENOTYPICFEATURE$; 2 patients had both conditions.	false
+3395349d17077dd3d3985f772ffc53489697df8f	We report four patients, three boys and one girl, with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0e5b4a32b1ab1a7166d8b17c14400afc3ea1e476	A review of the literature revealed 17 patients with hot flashes and @DISEASE$ and another 5 patients with hypothalamic @PHENOTYPICFEATURE$.	false
+b193492017cd69ffa654b498ef988c69c84e784f	The levels were low in patients with @DISEASE$, @PHENOTYPICFEATURE$ and acromegaly.	false
+ac5dfde7f6601cec8eb0aca6b6ae8fc2baa5c03f	@DISEASE$ and @PHENOTYPICFEATURE$; the relation of the pituitary gland to sexual differentiation.	false
+f098cfa9531962ddf19605e2d2fe350178061da2	Investigations showed @DISEASE$, unilateral @PHENOTYPICFEATURE$ and inflamed cerebrospinal fluid.	false
+423d1b27b544accacee25a07cdb6b00280c6d18e	He was later diagnosed with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ffacdccc529fa671eaa38e1a1adc96decb90c470	We report a patient with congenital complex @DISEASE$ (CPHD) with intestinal malrotation and @PHENOTYPICFEATURE$.	false
+327d75456f50a26fb5c53acdc4ca7ad346e10358	Hyperreninemia and hypertension observed during Kaufmann therapy of patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+de9632a6a75f2ac8aa4fc4d053eff8be1cbfb17e	He also developed @DISEASE$ after the resection with hypothyroidism, hypoadrenalism and @PHENOTYPICFEATURE$.	false
+611e32a8f9df444081ee9e97e7d43d913ff2be0d	The possibility of @DISEASE$ should be considered in patients with @PHENOTYPICFEATURE$ and intellectual disability.	false
+6f98555c0f2469e014559d33b15e4c82bad1118e	The possibility of @DISEASE$ should be considered in patients with seizures and @PHENOTYPICFEATURE$.	false
+4dc05d6d25f1a848722c4ac8de67e051b29c095f	Both children presented with early-onset refractory @PHENOTYPICFEATURE$, hypotonia, and profound global developmental delay, reminiscent of other @DISEASE$ phenotypes.	false
+5aabc9e64633769640145b863450b58751eeb846	Both mevalonic aciduria, characterized by psychomotor retardation, @PHENOTYPICFEATURE$, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-@DISEASE$) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase.	false
+a47a033f5f83a40bd810023925a2e0147893939c	Recently, many cases of inherited GPI deficiency(@DISEASE$) are found among individuals with intellectual disability and intractable @PHENOTYPICFEATURE$.	false
+cd19d91b49f4d91826c266c7d647ec684df527d6	Recently, many cases of inherited GPI deficiency(@DISEASE$) are found among individuals with @PHENOTYPICFEATURE$ and intractable seizures.	false
+ea45e69705793af9606ee0857d66b99b3be61a73	@DISEASE$ is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone abnormalities, hearing loss, synkinesia, eye movement abnormalities, poor balance due to @PHENOTYPICFEATURE$, etc.	false
+d7a7e510378d71a30f8adad7199724ffe47e22b1	@DISEASE$ (HIES, or Job syndrome) is a rare primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eosinophilia, recurrent skin and pulmonary infections, dermatitis, and connective tissue and @PHENOTYPICFEATURE$.	false
+ab0f8519818748ff6cccc77dca61ee8869143004	Autosomal dominant hyperimmunoglobulin E syndrome (HIES, or @DISEASE$) is a rare primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eosinophilia, recurrent skin and pulmonary infections, dermatitis, and connective tissue and @PHENOTYPICFEATURE$.	false
+a371b115c563be8a0b7f751913aa1744013ce498	@DISEASE$ (HIES), also known as Job's syndrome, is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+c72ead40b9f0ccc0e188a2e628ded53b75cb90ea	Hyperimmunoglobulin E syndrome (HIES), also known as @DISEASE$, is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+836f9e965799bbe982d462810a1afc6951f69e88	@DISEASE$ (HIES) is a rare primary immunodeficiency disorder defined by high serum immunoglobulin E titers that is associated with recurrent respiratory infections, formation of pneumoatoceles, recurrent skin abscesses, and characteristic dental and @PHENOTYPICFEATURE$.	false
+d22b38d4bf0db9fbb5b67e6b46518c16698d5516	@DISEASE$ (HIES) is an inborn disorder characterized by recurrent skin and respiratory tract infections, @PHENOTYPICFEATURE$, chronic eczema and elevated serum IgE.	false
+1a6539c31a844d2daafef004595e5341393f9309	Hyperimmunoglobulin E (Hyper IgE) syndrome, also described as @DISEASE$, is a rare primary immunodeficiency disease characterized by recurrent skin and respiratory tract infections, chronic eczematous dermatitis, @PHENOTYPICFEATURE$ associated with markedly elevated serum IgE levels.	false
+5c571eb6be150b47ccd7390d2a2e20991d7c7122	@DISEASE$ (AD-HIES), characterised by eczema, increased susceptibility to skin and lung infections, elevated IgE and @PHENOTYPICFEATURE$ is associated with heterozygous STAT3 mutations.	false
+e550aa9f139a74f01af54286b0106862f7dbe251	Autosomal dominant hyper-IgE syndrome (@DISEASE$), characterised by eczema, increased susceptibility to skin and lung infections, elevated IgE and @PHENOTYPICFEATURE$ is associated with heterozygous STAT3 mutations.	false
+df2d0ad09972979ccea359653e28973509340487	He had @PHENOTYPICFEATURE$ and @DISEASE$ and also showed features of Potter's (renal nonfunction) syndrome, including bilateral renal agenesis, pulmonary hypoplasia, and the typical facies.	false
+38ed83502ad0957d62b526b3eca8b088694adb89	We report on a girl with growth and @PHENOTYPICFEATURE$, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and @DISEASE$.	false
+f3c9b034ef9849f7599d4b5333fbbd45fc54230c	@PHENOTYPICFEATURE$, club foot, exencephaly and @DISEASE$ were also observed frequently.	false
+37e5dc96e2cd93d44647c7dd04396ee43a9e7418	To highlight this difficult issue and its emergency management and repair, we present this report of a 46-year-old man, who was known to have @DISEASE$ and who was hospitalised for incarcerated inguinal hernia, massive chylous ascites, severe lower limbs oedema, hypoproteinaemia, hypoalbuminaemia and @PHENOTYPICFEATURE$.	false
+c7564c389d9936cbc93b107ea3a9a9b800bc4b77	We report a 3-year-old girl with autosomal dominant inherited @DISEASE$ showing circumscribed @PHENOTYPICFEATURE$, heterochromia iridis, sensorineural deafness, and dental aberrations.	false
+45449cadde0aa1f7c54cfda2125fdaa921844c15	@DISEASE$ with heterochromia iridis and circumscribed @PHENOTYPICFEATURE$.	false
+cf17249f079cc1ca430b50b36ed220b9adfd140f	The article provides an overview of @DISEASE$ (ALSP), focusing on the clinical presentations of cognitive impairment and symptoms of @PHENOTYPICFEATURE$.	false
+8e63d09fae7cb12f0aa99c78dd61ac5b9e812183	The cardinal motor symptoms of @PHENOTYPICFEATURE$ @DISEASE$ were gait disturbance and bradykinesia, which may appear as the initial symptoms.	false
+e0d4866087ba4ffe471f8ac2a0bca5f3c02fa3cb	@DISEASE$ (HDLS) is an early-onset @PHENOTYPICFEATURE$ that predominantly affects the cerebral white matter.	false
+e8d85874465e41134fde2bb9518aff5640cba2ae	Hereditary diffuse leukoencephalopathy with spheroids (@DISEASE$) is an early-onset @PHENOTYPICFEATURE$ that predominantly affects the cerebral white matter.	false
+0d679d6520c47fc17e6cb8e485f32e03054f6ae3	Cognitive dysfunction and symptoms of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1e278a42ddb15a5bb2eb295fcbad2f45bee8d501	CSF1R gene mutations cause @DISEASE$ (HDLS), an autosomal-dominantly inherited microgliopathy, leading to early onset @PHENOTYPICFEATURE$ with high lethality.	false
+477c5e3f412867edb8dd9020d7c42b6b18f7ba2d	CSF1R gene mutations cause hereditary diffuse leukoencephalopathy with spheroids (@DISEASE$), an autosomal-dominantly inherited microgliopathy, leading to early onset @PHENOTYPICFEATURE$ with high lethality.	false
+31c2eedd6e15c0b80a131f059d1886615a597779	@DISEASE$, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young @PHENOTYPICFEATURE$, leukoencephalopathy and brain calcifications.	false
+2e566c582fe9ef2585738df9f9a44d942a2fbf59	Cholestasis, @DISEASE$, and total parenteral nutrition were common topics from 1970 to 1989 and @PHENOTYPICFEATURE$, nonalcoholic fatty liver disease, and eosinophilic esophagitis were common topics after 1990.	false
+ea2bce3945dadc0e36d37e0ee07eb4c8bc6c8f46	We herein report an end-stage case of @DISEASE$ that was associated with multiple bone fractures and severe @PHENOTYPICFEATURE$.	false
+4f991d4d117ffe8f047d969c28671e26ba1c250a	Associations between pediatric choledochal cysts, @DISEASE$, and congenital @PHENOTYPICFEATURE$.	false
+efdea9c1135e3148990a8518c5e31e5a1131578b	An 8 1/2-month-old girl with @DISEASE$ and polysplenia syndrome having multiple vascular anomalies without @PHENOTYPICFEATURE$ is reported.	false
+92dc4e2f733a1057eb850aa5347e1b4da006209f	A child is reported with green hypoplastic teeth in both dentitions, resulting from @PHENOTYPICFEATURE$ @DISEASE$.	false
+4c57f738a1d5a9c20c8256efe38c40fcfbf8df25	@DISEASE$ is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and @PHENOTYPICFEATURE$.	false
+a35f71bbc5a90dfb84d2e8d59d0a014a842337e9	@DISEASE$ is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and @PHENOTYPICFEATURE$.	false
+a032ef2574e5df26a41a14fd5c2e5d41e2f7b6c7	@DISEASE$ (MWS) is a rare mental retardation-multiple congenital anomalies syndrome associated with typical @PHENOTYPICFEATURE$.	false
+640aa6fff266cbab2175ad9a89178735847a084c	Because @DISEASE$ has been caused by de novo @PHENOTYPICFEATURE$ in ZFHX1B, germ-line mosaicism should be considered if recurrence in siblings is observed.	false
+761be0b4ea824583b029772cb398cd2b0e503361	@DISEASE$ (MWS) is a rare autosomal dominant genetic disease caused by zinc finger E-box-binding homeobox 2 (ZEB2) gene mutation and has various clinical manifestations including intellectual disability/global developmental delay, @PHENOTYPICFEATURE$ and multiple congenital malformations.	false
+8fb37169ea6b39a169908880f761848577034c89	@DISEASE$ (MWS) is characterized by severe mental retardation with seizures, specific @PHENOTYPICFEATURE$, Hirschsprung disease, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+05ace0e4581dbbfee6c4d46135028f9cb1bfd3ac	To address the question of clinical and @PHENOTYPICFEATURE$ variability, we analysed a large number of patients with suspected @DISEASE$ (MWS).	false
+0ddaf8bb407ab77fa6bdf4bc266d6d395d4ba9a2	The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and @DISEASE$ (mental retardation, @PHENOTYPICFEATURE$ and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.	false
+f2671a6db9ec2462d2eef83ea97ce6d8d5fc0d2d	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and @DISEASE$, distinctive of Pitt-Hopkins syndrome are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+23402fcfb69dd3650d3dbc6cc23647fe139564e4	At birth he had @PHENOTYPICFEATURE$, widely open metopic suture, ocular hypertelorism, cleft palate, apparently low-set ears, cerebellar vermis hypoplasia and ventricular septal defect (@DISEASE$) with pulmonary hypertension.	false
+332b09e5477f0053aa406eea381c7caf736ea674	Three were paediatric cases with @PHENOTYPICFEATURE$, developmental delay, ASD, @DISEASE$, pulmonic stenosis, congenital and behavioural abnormalities.	false
+c24018ec9e13910a65927f48093505b859e0a6ab	Complications included infection (n = 4), hemorrhage (n = 4), pneumothorax (n = 1), @PHENOTYPICFEATURE$ (n = 4) and residual shunt (n = 1) of @DISEASE$.	false
+86f4c03efa4e903882dc5aed61d8a55195cd966a	A one month old boy presented with @PHENOTYPICFEATURE$, jaundice, ventricular septal defect (@DISEASE$) and dysmorphic face.	false
+eebd75be8e0ce620b91d81afc695fd74d58cbad1	Holt-Oram (HO) is a syndrome characterized by congenital cardiovascular malformations, specifically atrial and @DISEASE$, and skeletal @PHENOTYPICFEATURE$ bones.	false
+104d1322a7608579bf15412f8cf085791ac14024	The patient presented with @PHENOTYPICFEATURE$, velopharyngeal insufficiency, dysmorphism, mental retardation and a muscular @DISEASE$.	false
+606a8610fe8b22eec25ab64999d8eb62b0415f23	Patient 2 was born with IUGR, significant craniofacial and body asymmetry, asymmetric @PHENOTYPICFEATURE$, unilateral hearing loss, scoliosis, @DISEASE$, unexplained dilated cardiomyopathy, feeding difficulties, failure to thrive, and recurrent respiratory tract infections.	false
+b31f4807d8ccc5884d5ae3a5440fb13ee20db35c	Patient 2 was born with IUGR, significant craniofacial and body asymmetry, asymmetric skin hyperpigmentation, unilateral hearing loss, scoliosis, @DISEASE$, unexplained dilated cardiomyopathy, feeding difficulties, @PHENOTYPICFEATURE$, and recurrent respiratory tract infections.	false
+d5d445f4a5f189cb27cd2cd7f158ecaaa2ff7e0e	@PHENOTYPICFEATURE$ was the most frequent complication for @DISEASE$ (5.8%), TOF (8.9%), and AVSD (14.7%) repairs.	false
+78d329b76ba9586597ecf38efdf5a03bb5594315	It is also well known that ventriculotomy for closure of @DISEASE$ sometimes causes postoperative ventricular dysfunction or @PHENOTYPICFEATURE$.	false
+c8531817fe8a6e804d4ad250d59ed8d8cffc14cd	A common mutation in the COG7 gene with a consistent phenotype including @PHENOTYPICFEATURE$, adducted thumbs, growth retardation, @DISEASE$ and episodes of hyperthermia.	false
+e0e55e3bb3108d83c552cce4b9f6e0d2e511d862	A male in his early thirties with a history of hyperparathyroidism and a transsphenoidal prolactinoma resection presented years later with abdominal symptoms concerning for @DISEASE$: worsening epigastric @PHENOTYPICFEATURE$, nausea, vomiting, and diarrhea.	false
+098d82dbee7e2e9464eed4c7e106d0b8d2d3a316	A male in his early thirties with a history of hyperparathyroidism and a transsphenoidal prolactinoma resection presented years later with abdominal symptoms concerning for @DISEASE$: worsening epigastric abdominal pain, nausea, @PHENOTYPICFEATURE$, and diarrhea.	false
+f72d624baa0ac7a300db2560b700840c01651f05	We report the case of a 32-year-old Indian man with symptoms suggesting @DISEASE$ including @PHENOTYPICFEATURE$, esaphagitis, duodenal stenosis that did not improve with antisecretory medication, elevated fasting gastrin serum levels that increased after intravenous secretin injections, elevated chromogranin A serum levels and tumoral aspect of pancreatic uncus on CT scan examination.	false
+cff0389982401a709d6e674e397155483c878daa	Furthermore, various lung cancers synthesize and release a number of peptides such as gastrin and gastrin-releasing peptide that could cause acid hypersecretion; however, @DISEASE$ (ZES), because of a @PHENOTYPICFEATURE$, has never been described.	false
+548a229d695933b0b313bd34a3232797f12d7def	Symptoms included the @DISEASE$ (4 patients), the carcinoid syndrome (1 patient), mechanical obstruction (3 patients), bleeding (1 patient) and @PHENOTYPICFEATURE$ (1 patient).	false
+d31a89845cefb416823bb325bc6afd4cbea4b349	@DISEASE$ (ZES) results in hypersecretion of gastric acid (via gastrinoma) leading to peptic ulcers, diarrhea, and @PHENOTYPICFEATURE$.	false
+a97fc2eeda606013392b5e0fb2fcc99f7db37a3c	The authors describe the case of a 51-year-old male with @DISEASE$ manifested by epigastralgia, nausea, @PHENOTYPICFEATURE$, hypergastrinemia and multiple endocrine neoplasia type 1. History included a Billroth II procedure for a perforated duodenal ulcer.	false
+cb3a05cd8f0dcef203b85807349361f4233445bc	However, significant differences were observed between patients with idiopathic gastric acid hypersecretion and patients with @DISEASE$ with regard to percentage of males: 77% compared to 64% (P = 0.008), mean serum gastrin: 60 pg/ml compared to 3679 pg/ml (normal < 100 pg/ml) (P < 0.001), mean basal acid output: 15.4 meq/hr compared to 47.0 meq/hr (P < 0.001), mean age at onset of symptoms: 33 years compared to 41 years (P < 0.001), mean duration of symptoms before diagnosis: 11 years compared to five years (P < 0.001), percentage with @PHENOTYPICFEATURE$: 67% compared to 82% (P = 0.00004), percentage with diarrhea: 12% compared to 75% (P < 0.000001), percentage with pyrosis: 58% compared to 40% (P = 0.003), percentage with duodenal ulcer: 53% compared to 74% (P < 0.000001), and percentage with esophagitis: 31% compared to 42% (P = 0.0004).(ABSTRACT	false
+3820aa17ddd3252ffdb36e1a3519de32f94f695d	The esophageal rupture and subsequent hypotension was likely secondary to the combination of her @DISEASE$ and recent @PHENOTYPICFEATURE$ episodes.	false
+52d10e799cff196bfe66dd958ba88597b760140f	@DISEASE$ (IU), a subtype of @PHENOTYPICFEATURE$, has been associated with systemic autoimmune disorders, specifically with multiple sclerosis (MS).	false
+c7a2cee669ddb7a27ee8066e68cc5c2a32c93289	@DISEASE$-induced @PHENOTYPICFEATURE$: A neglected public health and social burden.	false
+7ae2cd52e29e943f367262bb830e37890cff95c9	@PHENOTYPICFEATURE$ from @DISEASE$ infections can occur in both acute and convalescent stages and is probably induced by an immune response.	false
+9e051387e27ef119db91901f11358001950fb325	Early-onset @PHENOTYPICFEATURE$ in @DISEASE$.	false
+253be81467c69a194d504b8d19fdaedae4f50991	Acute @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9bae46aebc06eb143f383736d89eb5d4bf7bbe41	@DISEASE$ virus (LASV) is endemic in West Africa and causes severe hemorrhagic fever and @PHENOTYPICFEATURE$.	false
+24f79972bf7a1e1b3a16c85adba07b16874ec083	Although an association between @DISEASE$ (LF) and sudden-onset @PHENOTYPICFEATURE$ (SNHL) was confirmed clinically in 1990, the prevalence of LF-induced SNHL in endemic countries is still underestimated.	false
+92126b67f56c2798817c6fa77fc5cf37e56bd8e9	A recently published prospective study on acute @PHENOTYPICFEATURE$ in @DISEASE$ among a West African population showed the audiometric pattern of a known virally induced hearing loss.	false
+b34411d0e12d1c79c5010586a54043c4d8a7c751	@PHENOTYPICFEATURE$ in @DISEASE$: two case reports.	false
+241887e833224b99c876e2a50d8f2d35926ccc10	@PHENOTYPICFEATURE$ are uncommon and are usually associated with Dandy-Walker continuum, Joubert syndrome, rhombencephalosynapsis, lissencephaly, @DISEASE$, Walker-Warburg syndrome, muscle-eye-brain disease, congenital cytomegalovirus infection to name a few.1,2	false
+cf066f07ae3b34ea6b62e9f509d32a979a164bc9	The purpose of the current study was to determine the relative prevalence of posterior and anterior tibialis dysfunction with use of gait analysis in a large group of patients with cerebral palsy and @DISEASE$ @PHENOTYPICFEATURE$.	false
+f4cb3cfbab94c8ffa9716462c49de63a45e943cc	According to traditional teaching, the posterior tibialis is the main cause of @DISEASE$ @PHENOTYPICFEATURE$ in patients with cerebral palsy.	false
+28c569c83f3378a4664e313e154fe35c97b143b6	Split tendon transfers for the correction of spastic @DISEASE$ @PHENOTYPICFEATURE$: a case series study.	false
+b5602441f0cf939559f6b4e59609f4dd005fdea8	Yunis-@DISEASE$?n syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, @PHENOTYPICFEATURE$, and severe neurological involvement.	false
+6519d1e2086075a8cf3274551dffb47eadb38eaf	Overactivity of anterior and/or posterior tibial tendon may be a causative factor of spastic @DISEASE$ @PHENOTYPICFEATURE$.	false
+f3013eac917a5d9d511d6b4e1ed4dfa8b261a08c	A case report is presented in which tissue expansion is used to provide the additional skin needed during an opening wedge mid-foot osteotomy to correct a @DISEASE$ @PHENOTYPICFEATURE$ in a patient with arthrogryposis multiplex congenita.	false
+7c49012ce7ee19e357d72f3caeb82443fef92545	Improvement of @PHENOTYPICFEATURE$ and optic nerve disease by cyclosporine in a patient with @DISEASE$.	false
+d1512f5fe4a955704787f1ec05d1787eb1a96f1a	Quantification and clinical relevance of @PHENOTYPICFEATURE$ in @DISEASE$: a review.	false
+e03aa1b06a2f426b05e5e00388c6e65f70071bf3	[@PHENOTYPICFEATURE$ tonic seizures in @DISEASE$.	false
+48bf4ed8ea47f8cb0530c52d238e8d2e67e29dc3	@DISEASE$ associated with pembrolizumab in a patient with @PHENOTYPICFEATURE$.	false
+763d8ac4fae96c53f4a7a7b4842d5362c7f9d2d0	[@PHENOTYPICFEATURE$ and neurological impairment in patients with @DISEASE$].	false
+02f41401fbe2ff41f89748138414c1012fdf69af	@PHENOTYPICFEATURE$ tonic seizures in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+04085f23e1e55d8a66d7c5fe99b1b7ac8facc4fa	@PHENOTYPICFEATURE$ and cognitive impairment in @DISEASE$: a review.	false
+7b3a2d1d8e0cdd97191965da82150e47978983b7	Reliable measurements of @PHENOTYPICFEATURE$ in individual patients with @DISEASE$.	false
+765e602a2a842bf004a202d7be70b5fb0dfd64b3	Reduced fingolimod dosage treatment for patients with @DISEASE$ and @PHENOTYPICFEATURE$ or neutropenia.	false
+f9f861001815ee219434a36e36fe6fd83f929fd2	The available data suggest that many patients with @DISEASE$ are asymptomatic and that the risk of stone formation is increased by an associated metabolic abnormality such as hypercalciuria or @PHENOTYPICFEATURE$.	false
+10edefb3c3a54ed7ba32afcb6b1f99b51808ba1d	Among the conditions associated with @DISEASE$ are Beckwith-Wiedemann syndrome/hemihyperplasia (13%), horseshoe kidney, congenital small kidney, @PHENOTYPICFEATURE$, Caroli syndrome, congenital hepatic fibrosis, Ehlers-Danlos syndrome, Marfan syndrome, immotile cilia syndrome, and arterial fibromuscular dysplasia.	false
+a7ed2a028d03685fb345440b91730e6f273c3999	Taken together our data demonstrate a differential ability of painful versus non-painful human @DISEASE$ tumor cells to secrete factors that augment sensory neuron responsiveness, and thus identify a potential determinant of @PHENOTYPICFEATURE$ heterogeneity in schwannomatosis.	false
+e3de116ce5a343591e056e5e55e1e945b020d8ad	Abnormalities in cilia structure or ciliary dysfunction can have devastating consequences ranging from diabetes and obesity to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+de66ce94b2d9d2df09d907705561f84f1facce83	In 18-years-old girl the features of @DISEASE$ with end-stage renal failure, epilepsy, @PHENOTYPICFEATURE$, calcifications of structures in central nervous system and skin abnormalities coexist.	false
+ccd3ff68219a53b4e4014d9682da911ab91a40d7	This band is rich in deletion mutants of genes involved in several human diseases, notably @DISEASE$, alpha-thalassemia, tuberous sclerosis, @PHENOTYPICFEATURE$, and cancer.	false
+61e4fdd6f4e332e464da7107bdde196726dc3b5f	We have refined MKS3 mapping to a 12.67-Mb interval (8q21.13-q22.1) that is syntenic to the Wpk locus in rat, which is a model with @DISEASE$, @PHENOTYPICFEATURE$ and hydrocephalus.	false
+e57daa6e02ebfefc38013f6d485c135f4f5fdeea	Wnt4 expression is induced throughout the collecting ducts in four murine models of renal injury that produce tubulointerstitial fibrosis: folic acid-induced nephropathy, unilateral @PHENOTYPICFEATURE$, renal needle puncture, and genetic @DISEASE$.	false
+8bdfef387c7fc6123e17ac96d17f23365c54ae89	In renal tubular diseases, apoptosis may be associated with tubular atrophy after @PHENOTYPICFEATURE$, tubular damage after ischemia-reperfusion or toxic drugs, and the development of @DISEASE$.	false
+6336bcb2f408b00379874ca2e108f86328345154	@DISEASE$ (PKD) is associated with mutations in PKD1 and PKD2 and @PHENOTYPICFEATURE$.	false
+d67d5eb5522254afdfb32c4743a827a0e68b6873	In three couples, genetic counselling revealed a high recurrence risk for a monogenic disease (myotonic dystrophy, hereditary @PHENOTYPICFEATURE$ and @DISEASE$).	false
+e2be76be998ec4811b32f0a1d16af048d3bf6117	Abnormalities in ciliary structure or function can have devastating pathological consequences ranging from sinusitis and obesity to @DISEASE$, retinal degeneration, and @PHENOTYPICFEATURE$.	false
+bc28fb5f87437734cbb4cab7f3db952a8049f807	Deletion of Lgr4 in mouse led to aniridia, @DISEASE$, genitourinary anomalies, and @PHENOTYPICFEATURE$, similar to the pathological defects of AGR syndrome.	false
+bde9fc1f8adc805fbad4b2817ff758eae169a1a3	Partial defects of COX have been shown in muscle of patients with progressive external ophthalmoplegia, either alone (ocular @PHENOTYPICFEATURE$) or as part of @DISEASE$.	false
+9775a9f87939b646065257ba26a41bcfe59be0d4	@DISEASE$ (KSS) and progressive external ophthalmoplegia (PEO) are related neuromuscular disorders characterized by ocular @PHENOTYPICFEATURE$ and ophthalmoplegia.	false
+ea83d8cf9aefdce6f2e51811e2cc6c0a4017bee4	Specific syndromes were the presenting feature in 8 (13%), @DISEASE$ (KSS) in 4 and myoclonus epilepsy with ragged-red fibers (MERRF) in 4. Myopathy was the presenting feature in 5 (8%) and 4 presented with infantile @PHENOTYPICFEATURE$.	false
+6426a184afd5be31f4f8d33b4fa53c751145b20b	@DISEASE$ (KSS) is a multisystem disorder with a confounding variety of clinical manifestations, including ocular @PHENOTYPICFEATURE$, pigmentary retinopathy, heart block and ataxia.	false
+5a10e5a1e0f59d2247fedfd515951ac7f2fa7ef1	We studied mitochondrial mutations and cardiac changes in 17 patients with @DISEASE$; ocular @PHENOTYPICFEATURE$; myoclonus epilepsy with ragged red fibers (MERRF); and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).	false
+aff2bfcb5f15b061c938b7b15028278f12596c6c	Three subgroups are described: pure ocular @PHENOTYPICFEATURE$ (14 cases), ophthalmoplegia "plus" or @DISEASE$ (10 cases).	false
+01c59679adaba7b2b0d0f22200b131a537f260e3	We studied seven patients with @DISEASE$ or isolated ocular @PHENOTYPICFEATURE$ who harboured a sub-population of partially-deleted mitochondrial genomes in skeletal muscle.	false
+36b907f16251ecf8916dc6429af588f368ec9d9a	We studied lactate and pyruvate concentrations in CSF and blood of a patient with @DISEASE$ (KSS), 3 patients with ocular @PHENOTYPICFEATURE$ and 11 normal control subjects.	false
+e016429c67cd3c9efe2ca13ce32f8c3ad63fae11	Large deletions of mtDNA have been found in patients with ocular @PHENOTYPICFEATURE$ and @DISEASE$: the deleted mtDNA appear to be transcribed but not translated, thus explaining the partial COX deficiency.	false
+3d2408844d95a7ac4387f2afa5a12c60539622d6	Some patients had only ocular @PHENOTYPICFEATURE$, whereas others had @DISEASE$, a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia.	false
+6d3b1c5fec1e9acad01c0374674343895d56662a	The incidence of @DISEASE$ and cardiac anomalies in patients presenting with @PHENOTYPICFEATURE$.	false
+c1a771084540e130d2974b4c7bd72056f7e7ce22	Concomitant mitral valve replacement and re-re-repair of severe @PHENOTYPICFEATURE$ correction in a patient with @DISEASE$.	false
+ee16a6236a47356821ac1a4edab3af002baafb6d	Concomitant aortic root and @PHENOTYPICFEATURE$ repair in @DISEASE$ patients.	false
+f52afc8a3d6bcf876d69414769faa8971cefa771	One patient with @DISEASE$ had a @PHENOTYPICFEATURE$ and an unstable sternum after emergent reoperation for a false aortic aneurysm.	false
+18591ccf3cba4984281dc540fdcc53fa163f9858	We reviewed the records of 28 patients with Marfan syndrome and 30 age-matched control patients with presumed isolated pectus excavatum to determine the outcome of surgical repair of the @PHENOTYPICFEATURE$ in @DISEASE$.	false
+63e7f77f9b753dfe5aed8047fd85269fcc12376b	We reviewed the records of 28 patients with @DISEASE$ and 30 age-matched control patients with presumed isolated pectus excavatum to determine the outcome of surgical repair of the @PHENOTYPICFEATURE$ in Marfan syndrome.	false
+1cbb700a79ffa2e1d8e8f7aae19c77bf0e8b79da	Two-thirds of patients with @DISEASE$ have concurrent @PHENOTYPICFEATURE$.	false
+c80ebe9d0a36dbadf212534933357c921be1c25e	Ocular @PHENOTYPICFEATURE$ and @DISEASE$.	false
+938dc2168f07433d97bcd31468fdca1e8edf663a	Musculo-@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+9021ddba292c29565598beb8b870b327828d062b	Referral of patients with @PHENOTYPICFEATURE$ for evaluation for @DISEASE$ and cardiac abnormalities is appropriate.	false
+44414fa04e8c69f06c896b5c053db1a1d196d91c	However, incidence of @DISEASE$ and cardiac abnormalities in patients presenting with an isolated @PHENOTYPICFEATURE$ remains unknown.	false
+1b96d6ae14f848ee59f81b92734729f405869b5c	Mutations in analogous loop regions of pyrin and midline-1 SPRY domains have been shown to cause Mediterranean @PHENOTYPICFEATURE$ and @DISEASE$, respectively.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+6941739251fd3990b07fa3e454d14bc76825180c	@DISEASE$ is a disease of early pregnancy, a form of incomplete @PHENOTYPICFEATURE$, but is expressed late in pregnancy.	false
+4338bb5bb632276c2322eed9b460888f8bad910c	Gestational diabetes and @DISEASE$ disorders are associated with offspring @PHENOTYPICFEATURE$, but the role of maternal adiposity in these associations remains unclear.	false
+aa3c0315343a7c680fe4ad822206d0c32ea6ffa6	The effect of prepregnancy @PHENOTYPICFEATURE$ and sFlt-1-induced @DISEASE$-like syndrome on fetal programming of adult vascular function in a mouse model.	false
+1235e6601a666dca994f0e49baac3a0ce212feff	The development of @DISEASE$ syndrome in primiparous women is associated with family history and @PHENOTYPICFEATURE$, factors that can be used as screening for early identification of patients at risk of PE development.	false
+fb7919049eb5354bf12f7b5bffb22c3afeda2069	@DISEASE$ is associated with ACE I/D polymorphism, @PHENOTYPICFEATURE$ and oxidative damage in Mexican women.	false
+ecd13a9446ebf622aa200408c7ce69191f50dce7	The other 7 women were in the last trimester when @PHENOTYPICFEATURE$ developed; in 4 women, the heart failure was precipitated by severe @DISEASE$ and in 2 women was precipitated by sepsis.	false
+39ca2e0a4c1e4b9024734b683f4c5d4c7802bded	The other 7 women were in the last trimester when heart failure developed; in 4 women, the @PHENOTYPICFEATURE$ was precipitated by severe @DISEASE$ and in 2 women was precipitated by sepsis.	false
+96e6730bbd10c701d9b9886eda612c9dba4e2104	Current oral contraceptive use, heavy cigarette smoking, treated hypertension and diabetes, @DISEASE$, and @PHENOTYPICFEATURE$ were all reported by, and type II hyperlipoproteinaemia was found more often in, patients with myocardial infarction than their controls.	false
+8f99669a7a168c5075d2e734e7e13e35cec25ac8	@DISEASE$ is associated with stage B @PHENOTYPICFEATURE$ (asymptomatic left ventricular dysfunction/hypertrophy), a high prevalence of essential hypertension and an increased cardiovascular risk status within few years postpartum.	false
+75d585d4ddff9e2819b079fa55576a8ce0422135	@DISEASE$ and @PHENOTYPICFEATURE$ are two closely related syndromes.	false
+100ab7e989bec80f1686bf69dee38d5289be22dd	Cochlear implants for @DISEASE$ @PHENOTYPICFEATURE$.	false
+03176299e01c170974eb60321f5281a55c934dd3	Inherited mutations in the Myh9 gene have been linked to non-syndromic hereditary hearing impairment @DISEASE$ as well as 'MYH9-related disease' characterized by macrothrombocytopenia, leukocyte inclusions, and in some patients @PHENOTYPICFEATURE$.	false
+bc82d6d01869c9d4879870b52d1c3cd19f1be049	Thus, cochlear implants should be strongly considered for clinical management of patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+a20aaeb8ea86cef32f88300ef337eb6966cc1ada	Sepiapterin reductase deficiency (@DISEASE$) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive @PHENOTYPICFEATURE$.	false
+9069895f780f83c920698593ae068cb6378fe1af	@DISEASE$ (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive @PHENOTYPICFEATURE$.	false
+ac143b5de10204a29de0f38d328f49ef70cdad22	Dopa-responsive hypersomnia and mixed @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+137fe690be3220f6aede5e971abdb1d28a9dfea6	Based on IHC profiles @DISEASE$ @PHENOTYPICFEATURE$ did not form a single, exclusive cluster.	false
+9fbed9e414206887ce7d3dab9c96469909fccbcf	The morphological features associated with Lynch syndrome, that is, right-sided @PHENOTYPICFEATURE$ location, poor differentiation, expansive growth pattern, tumour-infiltrating lymphocytes, peritumorous lymphocytes, Crohn-like reactions, and lack of dirty necrosis, were significantly less often observed in @DISEASE$ tumours.	false
+a987bf40d8c4fea5690eecbd5122348beeccaf61	The morphological features associated with Lynch syndrome, that is, right-sided tumour location, poor differentiation, expansive growth pattern, tumour-infiltrating lymphocytes, peritumorous lymphocytes, Crohn-like reactions, and lack of dirty necrosis, were significantly less often observed in @DISEASE$ @PHENOTYPICFEATURE$.	false
+95968ba638b1d44e4ad4310b85ce37acc288fc34	The morphological features associated with Lynch syndrome, that is, right-sided tumour location, poor differentiation, expansive growth pattern, @PHENOTYPICFEATURE$-infiltrating lymphocytes, peritumorous lymphocytes, Crohn-like reactions, and lack of dirty necrosis, were significantly less often observed in @DISEASE$ tumours.	false
+9b5ec2cbe76388c503fbf7039adc1e3ed95f3d38	@DISEASE$ @PHENOTYPICFEATURE$ showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p and 15.	false
+75c174c6c48b96ea3939b6ed2eca026a1869c655	We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the @DISEASE$ (FCCTX) syndrome with the aim to delineate @PHENOTYPICFEATURE$ characteristics that may contribute to refined diagnostics and optimized tumor prevention.	false
+753b801c8cc2f4027bbe7e1e6cd4969ef85ff378	We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (@DISEASE$) syndrome with the aim to delineate @PHENOTYPICFEATURE$ characteristics that may contribute to refined diagnostics and optimized tumor prevention.	false
+85c7e7f1b2ea166695184969bd93f14bfac34ac9	We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the @DISEASE$ (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized @PHENOTYPICFEATURE$ prevention.	false
+ffed29cba42d600e6f2b5fed899443c2aeccea49	We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (@DISEASE$) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized @PHENOTYPICFEATURE$ prevention.	false
+1bf12e2645e0069394cb0a4d9c103dadda37f36d	Genome-wide linkage analysis and @PHENOTYPICFEATURE$ characterization reveal heterogeneity in @DISEASE$.	false
+f028a632cf050bd980c480c224797e0d42dc53ac	New molecular features were found: the majority of @DISEASE$ @PHENOTYPICFEATURE$ (13/18; 72%) presented TSG loss.	false
+fb232e3debe2e3181bb14d614a6f836beeeeedac	was identified in 65% of the @DISEASE$ @PHENOTYPICFEATURE$.	false
+038dfda9d1152e62cced0139bed7b1b6f30b8de7	We aimed to identify susceptibility loci and gain insights into carcinogenic pathways involved @DISEASE$ @PHENOTYPICFEATURE$ development.	false
+b4daed589d84e11badec38963edf741850315030	Additionally, we screened for BRAF/KRAS mutations and determined CpG island methylator phenotype (CIMP) status for all @DISEASE$ @PHENOTYPICFEATURE$.	false
+02f61df5eb7c0ed7ce17f59df2a93167797f7b85	Our results highlight the heterogeneity of @DISEASE$ @PHENOTYPICFEATURE$ and call into question the utility of using only clinical criteria to identify FCCTX cases.	false
+b6dda36866637a9022952823137f50177d797a39	Aicardi-Gouti?res syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid.	false
+f34cc89284859ec0b2eb948c00e32dbfbb1e137b	Imaging findings included @PHENOTYPICFEATURE$, cerebral atrophy, and @DISEASE$.	false
+72f83afbde0ed641536240f6122ce515dfbe2072	A distinct phenotype of childhood @DISEASE$ presenting as @PHENOTYPICFEATURE$.	false
+3ea7047762976e103ce9455db72fe14a0a514a34	Neuropathological findings in this case revealed @PHENOTYPICFEATURE$, tigroid @DISEASE$, bizarre reactive astrocytes, severe cerebellar atrophy with loss of Purkinje cells, and arteriolar/neuronal calcifications in the hypothalamus.	false
+4b6c059c752fdc0d9df19225cb7ce179ebf26b51	A case of a complete Kearns-Sayre syndrome, of early onset, associated with cerebral and cerebellar @DISEASE$ and @PHENOTYPICFEATURE$ is reported.	false
+44136affb2c2bd4e4e42966f5290734943632a15	A clinical situation involving the coexistence of high             interferon?? levels and lymphocyte activation is the Aicardi-Gouti?res syndrome,             a progressive encephalopathy arising usually during the first year of life characterized             by intracranial @PHENOTYPICFEATURE$, @DISEASE$ and microcephaly.	false
+7a5605c4e698cdd20337931fa4e2b28cd68ca863	Aicardi-Gouti?res syndrome is a rare progressive encephalopathy characterized by a typical clinical picture, bilateral @PHENOTYPICFEATURE$, @DISEASE$ and brain atrophy, lymphocytosis, and elevated interferon-alpha in the cerebrospinal fluid.	false
+586e4b1ff9da9bf6699c87de3ddb702e4a2d9286	We recently encountered a case of an intracranial @DISEASE$ in a 53-year-old man who presented with persistent headaches and a @PHENOTYPICFEATURE$.	false
+2c4b559814f24f88d4ae701de9216fb52775a25a	A 55-year-old woman presented with an extremely rare primary central nervous system mucosa-associated lymphoid tissue (MALT) lymphoma manifesting as @PHENOTYPICFEATURE$ and was subsequently diagnosed with dural @DISEASE$ in the cranium.	false
+048aa7110700b45e9f8d78345684ffd55fd44d8e	Rare case of cerebral @DISEASE$ presenting with stroke-like symptoms and @PHENOTYPICFEATURE$.	false
+b995bd84cea28da5e3ff23e219c8bfb0768afc5e	We report two unusual presenting manifestations of @DISEASE$ (WAS), recurrent acute hemorrhagic @PHENOTYPICFEATURE$ of infancy (AHEI); a form of cutaneous vasculitis and hyperostosis of the tibia.	false
+7bdda0e9b8e901b8c623a8ce4a73dfcb63068bb6	@DISEASE$ presenting with early onset recurrent acute hemorrhagic @PHENOTYPICFEATURE$ and hyperostosis.	false
+aed87cbb058f698a76be47298b1e222cbf28adef	The patient had alcoholic neuropathy, mild @PHENOTYPICFEATURE$, and @DISEASE$ cerebellar disorder.	false
+78f297f7b272e5320ddf5fd9e04db646d8d77a7c	Peripheral neuropathy, @PHENOTYPICFEATURE$, and intellectual impairment was investigated in 46 males with @DISEASE$ nervous system damage.	false
+4d4ef5793c6d5c555b1d27e291a231e6441ee6e6	Peripheral neuropathy, cerebral atrophy, and @PHENOTYPICFEATURE$ was investigated in 46 males with @DISEASE$ nervous system damage.	false
+222df9ef897625580a0c5a926e96d269e897425a	Patients with @PHENOTYPICFEATURE$ have lifestyle risk factors, especially tobacco and @DISEASE$ consumption, that play an etiological role in the development of their cancer but also places them at risk for reflux.	false
+13d0279f48874e88f37fc114e1920692de18cabb	[Treatment of @PHENOTYPICFEATURE$ with imaging-guided percutaneous catheterization drainage and @DISEASE$ sclerosis].	false
+dec84c35f1c7ae3bc70761e25a00b1a4505b4d74	Many Japanese patients with @PHENOTYPICFEATURE$ experience episodes or exacerbation of asthma after @DISEASE$ consumption.	false
+cb5e0f468adaebad6bf26beb3bd0eb294ce4d614	[Confusion, @PHENOTYPICFEATURE$ and ophthalmoplegia in a patient with chronic @DISEASE$ consumption].	false
+a5799453885a7a4ccf95d29aaba21dd8d39b0da0	CT imaging criteria for definition of @DISEASE$ @PHENOTYPICFEATURE$ are proposed, discussed and compared with those previously reported.	false
+7cf950add003343b17c40600bdfd9f81d8e84c8c	@DISEASE$ Korsakoff's syndrome: some unresolved issues concerning etiology, neuropathology, and @PHENOTYPICFEATURE$.	false
+9433702058c937433792d57cf1c36391cf0938a8	Group 5. 19 patients without cirrhosis but with @DISEASE$ @PHENOTYPICFEATURE$.	false
+b76f47574ab10827f8aa8f61dddc02734338acca	Hypercortisolemia could be responsible for @DISEASE$ @PHENOTYPICFEATURE$ and is also associated with enhanced NMDA neurotoxicity.	false
+18a5f550bc5282e89b6d3ea90929cc07e2a9262e	@DISEASE$ with @PHENOTYPICFEATURE$: a rare association.	false
+2b4e7c773e2ec9aefc8aaaef578621cccd6af0e4	@DISEASE$; report of kindred with ocular abnormalities and @PHENOTYPICFEATURE$.	false
+9c2f163bae3ad7b7d46418746b8d854c009414ae	@PHENOTYPICFEATURE$, @DISEASE$, and radio-ulnar synostosis have been suggested as additional features.	false
+15842e37d88c0d3e33dd770d8b5eefc938f6446e	Ellis-van Creveld syndrome (EVC) is a chondral and @DISEASE$ characterized by short ribs, polydactyly, @PHENOTYPICFEATURE$, and ectodermal and heart defects.	false
+2194292d6395730edfadf7edaeb8586a2b2ce5e0	Ellis-van Creveld syndrome (EVC) is a chondral and @DISEASE$ characterized by short ribs, polydactyly, growth retardation, and ectodermal and @PHENOTYPICFEATURE$.	false
+e4eac08287454b487d2b435da434a5ee7411b846	More recently, @PHENOTYPICFEATURE$ and @DISEASE$ have been suggested as additional features of this syndrome.	false
+e9a755d3b22276876cbcc70e5fa4434d474358cd	This entity must be distinguished from numerous other forms of @DISEASE$, especially those forms that can be associated with @PHENOTYPICFEATURE$ and/or ankyloblepharon.	false
+2c07a09f3a529d45a91ee29535c6fa1d8c937b6a	Ellis-van Creveld syndrome (EVC) is a chondro-@DISEASE$ characterized by short ribs, polydactyly, @PHENOTYPICFEATURE$ and ectodermal and heart defects.	false
+d385df2e78b15d071478b82cf148a9a11904c32e	Ellis-van Creveld syndrome (EVC) is a chondro-@DISEASE$ characterized by short ribs, polydactyly, growth retardation and ectodermal and @PHENOTYPICFEATURE$.	false
+861fff9e5f6439342984b5402cfe112f3daf9049	The four principal characteristics are chondrodysplasia, polydactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f63ba145bc1cf4ef783c1306390ca100993a6525	Patients with this condition normally have chondrodysplasia, postaxial polydactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c8d1710cfab8b2597008196bd1e042d62bc29433	The KID syndrome is a rare @DISEASE$ associating erythrokeratodermia, @PHENOTYPICFEATURE$ and keratitis.	false
+f6d1a19ca28a02bd64a9e123aa515b32299086e6	Data on demographic factors, presence of foot eczema, hand @PHENOTYPICFEATURE$ @DISEASE$ and severity, and whether the hand eczema was work-related or not were available, as well as patch-test results.	false
+9c4be7e34bbd18076b4836e7ce5fb9859a191057	Data on demographic factors, presence of foot @PHENOTYPICFEATURE$, hand eczema @DISEASE$ and severity, and whether the hand eczema was work-related or not were available, as well as patch-test results.	false
+577a45ee9ac454d20d33403638815d40a7d03b70	AAD use was significantly higher, @PHENOTYPICFEATURE$ @DISEASE$ shorter and more diabetic patients underwent repeat procedures.	false
+1d789a0f0dad75c1115106660e9411e18c467e3d	Recurrence can be predicted using clinical variables such as left ventricular dilatation, @PHENOTYPICFEATURE$ @DISEASE$, and previous cardioversion.	false
+25b089c49a095174f784939ded08ec8af41ce757	Factors associated with @PHENOTYPICFEATURE$ "chronic state" (PAP and arrhythmia @DISEASE$) are negative predictors of procedural success.	false
+520369c714280ce78f9da51fa3d0ea2ae21d4bc6	Four significant risk factors for foot ulcers have been identified: retinopathy, poor psychosocial status, @PHENOTYPICFEATURE$, and diabetes @DISEASE$.	false
+b9b9ad889935cc973867afdc617d4aa0fb9f7fdb	In multivariate regression analysis including patch position, @PHENOTYPICFEATURE$ @DISEASE$, type of waveform, testing order and session, only waveform was associated with successful defibrillation (p < 0.02).	false
+3870c7e9a7ffcc43f4b0e3d6213e84abcb4c68c2	Patients with longer AF duration were older and had more advanced heart failure than patients with short @PHENOTYPICFEATURE$ @DISEASE$.	false
+2cc3bfd5d23b563170605aa83ba431061e243715	The process was unilateral and often associated with nontender pitting @PHENOTYPICFEATURE$ in cases of short @DISEASE$.	false
+2a4cd3ed4c120bbc4760d72bbcfb82dc8b0b251c	Electrocardiogram traces were recorded throughout the experiment and were subsequently analyzed for QT interval duration, left ventricular pressure, arrhythmia incidence and @PHENOTYPICFEATURE$ @DISEASE$.	false
+bc88b970c2eb00ac55722b549a01e0a439837bff	A stronger association is seen in patients with short @PHENOTYPICFEATURE$ @DISEASE$, reflecting either rapid remodelling or pre-existing changes in those who relapse to AF.	false
+b81454ecfc0ea1e849d07ee3250594815001477a	Loss of @DISEASE$ (ATRX), a chromatin regulator, is associated with worse prognosis in pancreatic neuroendocrine @PHENOTYPICFEATURE$.	false
+9ef64d1a0b991fc57c23896d8e3638323f52466d	Specific mutational events influence ALT activation and maintenance: a unifying frequent feature of @PHENOTYPICFEATURE$ that acquire this phenotype are the recurrent mutations of the @DISEASE$ (ATRX) or Death-Domain Associated Protein (DAXX) genes.	false
+fcbc9f1cd6ca6c55a052d3eed95258265027a47d	Loss-of-function of @DISEASE$ (ATRX) protein leads to a phenotype called alternative lengthening of telomeres (ALT) in some @PHENOTYPICFEATURE$.	false
+4349b59daaf90e18c96132e6ed998ebe67de555d	Mutations in the ATRX gene cause @DISEASE$, an X-linked recessive developmental disorder resulting in severe mental retardation and mild alpha-thalassemia with facial, skeletal and @PHENOTYPICFEATURE$.	false
+c7b02da73ae406287b72aef26f79ce77f1606751	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and @PHENOTYPICFEATURE$, as well as a wide spectrum of other pathological features.	false
+dedc93cc44e6dadf4739be6f57e52996cd5bad24	Most frequently mutated genes included @PHENOTYPICFEATURE$ protein P53 (TP53; 6/19; 33%), @DISEASE$ (ATRX; 5/19; 26%), and mediator complex subunit 12 (MED12; 4/19; 21%).	false
+37b4e5683ca01ff1cf413ae87523448d7e7db925	Those @PHENOTYPICFEATURE$ that lacked LOH 1p19q showed a high frequency of IDH1 mutations and loss of @DISEASE$ gene (ATRX) immunoreactivity, indicating a possible phenotypic convergence of true oligodendrogliomas and gliomas of the alternative lengthening of telomeres (ALT) pathway.	false
+ac546b82a57a8c9cbcbd35ca4a1e512fa9ec377e	In particular, mutations of the telomere binding proteins @DISEASE$ (ATRX) or death-domain associated protein (DAXX) have been shown to underlie a telomere maintenance mechanism not involving telomerase (alternative lengthening of telomeres), and point mutations in the promoter of the telomerase reverse transcriptase (TERT) gene increase telomerase expression and have been shown to occur in melanomas and a small number of other @PHENOTYPICFEATURE$.	false
+131000c12c3d162cba8298583239acd4cfdc0895	The @DISEASE$ is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, @PHENOTYPICFEATURE$, and alpha-thalassemia.	false
+9989646339fe6ab45e9dbbb8dac6f64626c23fea	By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic @PHENOTYPICFEATURE$, we unexpectedly identified a homozygous nonsense variant, p.Arg1066*, in AHI1, a gene associated with @DISEASE$ (JBTS), a severe recessive ciliopathy.	false
+ff3436d46e3173798ac2b232671cf47d44e0242d	@DISEASE$ has been associated with various airway abnormalities such as a high and arched palate, a large or protruding tongue, laryngomalacia, a variable epiglottis and @PHENOTYPICFEATURE$.	false
+0405cd4cc0f272d52eef70cc4d786fad959461da	A girl with @PHENOTYPICFEATURE$ and eye movements: @DISEASE$ (2005:3b).	false
+20cd3a9baf5f02d60704455bfabfd31f9145985c	Identification of a novel ARL13B variant in a @DISEASE$-affected patient with retinal impairment and @PHENOTYPICFEATURE$.	false
+687b88bf2d475409dc5526f1355ab34355825777	Hyperpnoeic episodic breathing (HEB), a cyclic waxing and waning of breathing, has been widely reported in pre-term neonates, patients with @DISEASE$ and adults (Cheyne-Stokes respiration) with @PHENOTYPICFEATURE$ and brainstem infarction.	false
+7c5fefb529c34250c707250133e17c58ae9e1b1b	A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or @PHENOTYPICFEATURE$) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and @DISEASE$.	false
+1862d24116fcd717f76aef1c960985d9fc62b65e	A patient with the CHARGE association (Coloboma of the eye, @PHENOTYPICFEATURE$, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and @DISEASE$.	false
+7dc190f226010912ab759f3fc1424153be6f77d1	A mouse model for @DISEASE$ reveals early onset @PHENOTYPICFEATURE$ and neuropathology associated with brain aging.	false
+b847c0f96f32cf9f125db2251def3355218c0c5e	Electromagnetic fields, age, male sex, @DISEASE$, @PHENOTYPICFEATURE$, alcoholism seem to be associated with lower melatonin secretion.	false
+b0d3093a314588fd6e494f8e144b10a2bcb8492f	@DISEASE$ caused by cortisol-producing adrenal adenomas is a rare condition, associated with high morbidity due to weight gain, diabetes mellitus, osteoporosis, hypertension, @PHENOTYPICFEATURE$, mood disturbance and others.	false
+2eb465578e98d1e94987b33d4409943af0728abe	@DISEASE$ due to adrenal cortical @PHENOTYPICFEATURE$.	false
+9e8b6823699eb87e2a0972f8fac7518e300a81f5	PCO and PCOS are common in women with Cushing's syndrome; women with @DISEASE$ and only moderately elevated cortisol secretion maintain gonadotrophin stimulation to the ovary with normal oestradiol levels, in contrast to women with Cushing's syndrome and higher cortisol secretion who develop @PHENOTYPICFEATURE$.	false
+4704bec13c13f48428ca6479f4c34302c6cf6a64	PCO and PCOS are common in women with Cushing's syndrome; women with Cushing's syndrome and only moderately elevated cortisol secretion maintain gonadotrophin stimulation to the ovary with normal oestradiol levels, in contrast to women with @DISEASE$ and higher cortisol secretion who develop @PHENOTYPICFEATURE$.	false
+3aea233b571d51917e7b4c46241ed87e7d73151e	The diurnal rhythm is absent or abnormal in certain disease states, including diabetes mellitus, @DISEASE$, hyperaldosteronism and @PHENOTYPICFEATURE$.	false
+1ddff86a5174f8faf57a686701adf5114d42de21	databases using the keyword "metformin" plus the following terms: "thyroid cancer," "thyroid nodules," "parathyroid," "hyperparathyroidism," "adrenal adenoma," "@DISEASE$," "hyperaldosteronism," "adrenocortical cancer," "neuroendocrine tumor (NET)," "pancreatic NET (pNET)," "carcinoid," "pituitary adenoma," "pituitary neuroendocrine tumor (PitNET)", "prolactinoma," "pheochromocytoma/@PHENOTYPICFEATURE$."	false
+9e94b0f92f1bb3a9d6ff34d5e72bb925c766887e	databases using the keyword "metformin" plus the following terms: "thyroid cancer," "thyroid nodules," "parathyroid," "hyperparathyroidism," "adrenal adenoma," "@DISEASE$," "hyperaldosteronism," "adrenocortical cancer," "neuroendocrine tumor (NET)," "pancreatic NET (pNET)," "carcinoid," "pituitary adenoma," "pituitary neuroendocrine tumor (PitNET)", "prolactinoma," "@PHENOTYPICFEATURE$/paraganglioma."	false
+26c8e268e21e331ec2a543b551f74a32dbf39664	@DISEASE$ associated with an adrenal @PHENOTYPICFEATURE$.	false
+13df461fec9f43c75fc63f6c214be2b513dca6ee	This case report describes the diagnosis of @DISEASE$ due to macronodular adrenal hyperplasia in an elderly woman who presented with fatigue, @PHENOTYPICFEATURE$ and oedema, and recent excessive bruising.	false
+eb9f6b3261cc3262bba8de2f2cd3b835485bdd69	She consulted with us because of general fatigue, facial edema, and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$.	false
+7f67dfc5647bd54c97c33cc286eb79244f2b9598	A 34-year-old female presented with a constellation of symptoms of @DISEASE$, including facial swelling, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+b77f49539122ace127e89646e631e328a733860a	Eleven patients with acquired cerebellar degeneration (10 of whom had paraneoplastic cerebellar degeneration [PCD]) were evaluated using neuropsychological tests and 18F-fluorodeoxyglucose/positron emission tomography to (1) quantify motor, cognitive, and @PHENOTYPICFEATURE$; (2) determine if characteristic alterations in the regional cerebral metabolic rate for glucose (rCMRGlc) are associated with @DISEASE$; and (3) correlate behavioral and metabolic measures of disease severity.	false
+5b73a73a33db5268af647ae303f2055edfa38a1e	Eleven patients with acquired cerebellar degeneration (10 of whom had paraneoplastic cerebellar degeneration [@DISEASE$]) were evaluated using neuropsychological tests and 18F-fluorodeoxyglucose/positron emission tomography to (1) quantify motor, cognitive, and @PHENOTYPICFEATURE$; (2) determine if characteristic alterations in the regional cerebral metabolic rate for glucose (rCMRGlc) are associated with PCD; and (3) correlate behavioral and metabolic measures of disease severity.	false
+7cce9098f40ec30d4d15d51d7779acf268b15ab1	Some physicians often perform diagnostic evaluations for plasma cell disorders (@DISEASE$) in African American patients on the basis of hematological abnormalities (thrombocytopenia, leucopenia, etc.) even in the absence of traditional triggers such as anemia, renal impairment, @PHENOTYPICFEATURE$, hyperglobulinemia, and lytic bone disease.	false
+65106440b56c7d4a8ac12a92b701c3dba0950e0c	Paraneoplastic cerebellar degeneration (@DISEASE$) is a paraneoplastic syndrome which destroys Purkinje cells of the cerebellum and causes trunk and limb ataxia, dysarthria, diplopia, and @PHENOTYPICFEATURE$, which often precede the diagnosis of cancer.	false
+761a742026d1a0d3620595577511136588781997	On the basis of our study we concluded that patients with clinical suspicion of @DISEASE$, especially those with LCD are referred to a special Protein Laboratory too late, it means at the time of significant nephrological risk in the form of low glomerular filtration rate, @PHENOTYPICFEATURE$ and hyperuricemia.	false
+ff0a47d2411649ab020e3ab722423bb6f34aeb93	Although @DISEASE$ has been associated with over 50 different drugs including imatinib, it has never been reported in association with imatinib treatment in solid @PHENOTYPICFEATURE$.	false
+acf7eb9f7dbc6b0b2593d5765f0975cf4d9fc3b4	Carcinoid @PHENOTYPICFEATURE$ in a @DISEASE$: role of cardiac surgery in a challenging patient and brief review of the literature.	false
+283be7f35f9c2a35a25841e81d106eaee116b890	The virus-positive cases of mixed-cell @DISEASE$ are characterized by increased number of @PHENOTYPICFEATURE$ and plasma cells (p < 0.05).	false
+571f27a3a33dd7c9c4e58954adb1b92873c980ea	The strong additional prognostic information obtained by serum LD within @DISEASE$ lymphomas is assumed to be due to an association with the @PHENOTYPICFEATURE$ burden.	false
+2cef42f0caa871f07ad4e5efe22994920d95aab8	DOI: 10.1177/1078155218791309: Sunitinib-associated @DISEASE$ in patients with neuroendocrine tumors: drug-effect or @PHENOTYPICFEATURE$ transformation?	false
+7959d416f080301ba5143438e9dd80531f4ac664	Limited value of 18F-F-DOPA PET to localize pancreatic insulin-secreting @PHENOTYPICFEATURE$ in adults with @DISEASE$.	false
+d5c5e1e620e86e23e5474d1ffff3756a36710679	Here, we review the recent published evidence suggesting that pharmacological chaperones represent promising avenues for the treatment of endocrine and metabolic diseases such as @DISEASE$, @PHENOTYPICFEATURE$ and nephrogenic diabetes insipidus, and might become a general therapeutic strategy for the treatment of conformational diseases.	false
+5d058f10bfed23e9d982044e7bd574f6949992da	(18)F-fluorodihydroxyphenylalanine (FDOPA) PET seems to be of limited value to localize pancreatic insulin-secreting @PHENOTYPICFEATURE$ in adult with @DISEASE$.	false
+18c3faa1e314d7d56ceca7494b914c909bd9c3f2	Multiple microadenomas are a rare cause of @DISEASE$ and localization, and resection of these @PHENOTYPICFEATURE$ may be facilitated by multimodal imaging.	false
+fe5cd1fbe30f799f483566e771545ee2c8da4820	On the later course of the disease, the humoral manifestations of the @PHENOTYPICFEATURE$ were supplemented by the secretion of insulin, leading to recurrent severe @DISEASE$.	false
+9bd90fbbf666db9ef7b57df79d0150cafdd1b82a	We provide evidence that GLP-1 secretion from the @PHENOTYPICFEATURE$ was the cause of @DISEASE$.	false
+24e8dda1d13ab6cd5148dcdc78fbc769e40cd829	In conclusion, improvement of @DISEASE$ by octreotide in Japanese insulinoma patients was associated with SSTR2 expression in the @PHENOTYPICFEATURE$.	false
+ec273db763cff9c373aa0566d1553a23cf02b558	We present here three unique patients with long-standing pNETs who developed life-threatening @DISEASE$ along with @PHENOTYPICFEATURE$ progression.	false
+ea847234e2aa3226954ff470514dd84de4512dba	We prospectively studied 10 patients with confirmed @DISEASE$ and presumed insulin-secreting @PHENOTYPICFEATURE$ using 18F-DOPA PET.	false
+3a42186d2f38e0f25154422b2833539993b629df	Radial ray defects and associated anomalies; unique nature of the radial deficiencies and @PHENOTYPICFEATURE$ in the @DISEASE$.	false
+b5a971f5b7c66eb3529e029076aeb752eb9a5eb2	Heimler syndrome (HS) is a rare recessive disorder characterized by @PHENOTYPICFEATURE$ (SNHL), @DISEASE$, nail abnormalities, and occasional or late-onset retinal pigmentation.	false
+27ae0729a7769ccc539ac9599f525a8b273228e8	A large X-chromosomal deletion is associated with @PHENOTYPICFEATURE$ with linear skin defects (MLS) and @DISEASE$ (XAI).	false
+b5a971f5b7c66eb3529e029076aeb752eb9a5eb2	Heimler syndrome (HS) is a rare recessive disorder characterized by @PHENOTYPICFEATURE$ (SNHL), @DISEASE$, nail abnormalities, and occasional or late-onset retinal pigmentation.	false
+7c3fe927981a0ee3fdb561c642eb0e96f1ca502d	Heimler syndrome (HS) consists of recessively inherited @PHENOTYPICFEATURE$, @DISEASE$ (AI) and nail abnormalities, with or without visual defects.	false
+57211ec39fe385a7eef4b05402f94e906234bf47	@DISEASE$, @PHENOTYPICFEATURE$, and Beau's lines, a second case report of Heimler's syndrome.	false
+d15f1ec8274be4aa4ee4f6661b9d34fc444033a1	We report a case of a 14-month-old boy with a primary intraventricular @DISEASE$ and obstructive @PHENOTYPICFEATURE$.	false
+41f41cb90d41383b02c2f2d85ce1e1a934ca1dcc	The diagnostic spectrum in both series included pyogenic arthritis, rheumatoid arthritis, brucellar and tubercular @PHENOTYPICFEATURE$, gout, @DISEASE$, synovial chondromatosis and acute rheumatic fever.	false
+c5cc3f84afe42f53f4c1507cb3fd86cc75b0dad4	@DISEASE$ (PVNS) is a synovial @PHENOTYPICFEATURE$-like lesion that frequently causes osteolysis.	false
+0857496a79f17e1b391e7512464fd603a5989843	Dupuytren's disease, heterotopic ossification, keloid scarring, @DISEASE$) to benign @PHENOTYPICFEATURE$ (e.g.	false
+eec7d031866e856cc1640fb43d8f2e3090839cac	@DISEASE$ is a rare benign @PHENOTYPICFEATURE$.	false
+eb71f85845b5a696b0a38992bb5ae4741ad680af	@DISEASE$ (PVNS) is a rare locally aggressive @PHENOTYPICFEATURE$.	false
+cf8703a608fdb4e2aabe059663e3fa4f86c45802	Metastasizing tenosynovial giant cell @PHENOTYPICFEATURE$, diffuse type/@DISEASE$.	false
+4a8c7ec9985b4f8662a25404b36ab0312f182c4f	@DISEASE$ is an unusual benign @PHENOTYPICFEATURE$ of the joint lining.	false
+f246c5261b5510b313efec5a21f129d8c710e0bd	Diffuse @DISEASE$ is a rare @PHENOTYPICFEATURE$ in the temporomandibular joint region.	false
+df883b483dd06adb4dfae45142ebfbeadff1113f	Only 1 @PHENOTYPICFEATURE$ had the classic villiform architecture of @DISEASE$.	false
+b9c16363ba731ee4b1d6fa8bcc64cd7cb9ad14ef	[The @PHENOTYPICFEATURE$ form of @DISEASE$].	false
+f712f41416d149eca7edbc79ce420581b39e129d	Twenty-three patients had West syndrome (WS), 13 had @PHENOTYPICFEATURE$ with continuous spike-waves in slow sleep (@DISEASE$), and six others had miscellaneous epileptic encephalopathies.	false
+6fe0a7a4828268346222deb29f86bdaa07714cec	Four patients with unilateral hemispheric DCD (pachigyric or 'poligyric') showed: Congenital hemiparesis, mild intellectual deficiency, @PHENOTYPICFEATURE$ (orofacial, hemiclonic, generalized) beginning in the third year of live, atypical absences with focal phenomena, frequent focal rhythmic SW discharges during wakefulness, and continuous SW status during sleep (@DISEASE$).	false
+f863e705c3d7b9d96b28de3fdee587ccf7a01251	The recurrence risk in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b02a645e7d72d7f5e9701e94b89f9c47d3bce48a	Vertebral and other abnormalities in parents and sibs of cases of @PHENOTYPICFEATURE$ and of @DISEASE$.	false
+7e52798048955805b5c9b59312e8089be7022f0f	This is additional evidence to support the hypothesis that multiple vertebral anomalies and @DISEASE$-@PHENOTYPICFEATURE$ are aetiologically related.	false
+0a7a63733435dfce21ec75cbcda92c3e4083322d	A review of the developmental abnormalities seen in utero include ventriculomegaly, @DISEASE$, encephalocele, meningomyelocele, Dandy-Walker syndrome, holoprosencephaly, craniosynostosis, microcephaly, and @PHENOTYPICFEATURE$.	false
+425a6280f0abdfce4934d912fd6e8ac092ee75ef	Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, @PHENOTYPICFEATURE$, @DISEASE$, hydrocephalus, and seizures.	false
+23bf57aa0b3528be20ed474a03afe85e55ee46a6	Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, @DISEASE$, hydrocephalus, and @PHENOTYPICFEATURE$.	false
+87041cbfacff3590e1b7665144ab8fff74524d89	Fetal abnormalities included @DISEASE$, imperforate anus and urethral meatus, severe talipes, @PHENOTYPICFEATURE$, cardiac defects and other anomalies.	false
+3eb1d041fc83c280781cd753711ebbd324c474cc	The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformation--@PHENOTYPICFEATURE$ and @DISEASE$.	false
+09ff9bb8c01badb10950728874c33797b14687ec	@PHENOTYPICFEATURE$ (myelomeningocele, meningocele) represented 71%, followed by encephalocele (21.1%) and @DISEASE$ (5.4%).	false
+e84a7dcee1762cadec088a1504ea29c443a13812	@DISEASE$ and @PHENOTYPICFEATURE$ were observed in 1.65% of sibs of children with hydrocephalus, a 2- to 8-fold increased over the population frequencies.	false
+4bdb286c34d5f9e3f3a00e41e2aff8517d096597	Eight cases of fetal abnormality, including @DISEASE$, exencephaly, cervical myelomeningocele, cystic hygroma, omphalocele, posterior fossa cyst and @PHENOTYPICFEATURE$, were diagnosed by using the transvaginal sonographic approach.	false
+c544939cc6cb82ce75ec84fa0910c2ac7da00522	Toxicities were moderate and manageable with 18.2% grade (G) 4 neutropenia, 24.2% G3 @DISEASE$.1% G3 @PHENOTYPICFEATURE$, and 3% G3 asthenia.	false
+c615723853eb498e16f66494069d43eee64db23f	Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ "plus"), neurotransmitter receptors (Angelman syndrome), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (@DISEASE$).	false
+46c4e537233efb2615f76727709b61ae10637f1a	There are also reports describing a @DISEASE$ phenotype in a subset of patients with full mutations in the FMR1 (fragile X @PHENOTYPICFEATURE$ 1) gene.	false
+1b46e84f5d72a0e29309ef6a47354fba095328ef	The duplication was between 11.1 and 14.4 Mb in length and overlaps with three loci to which @PHENOTYPICFEATURE$ with @DISEASE$ features have been previously mapped, showing the utility of array CGH in helping to identify candidate genes.	false
+0ac9cb61309264ce679f53d0e5d5279f2fad2c1c	MAGEL2 mutations, first reported to be the cause of the @DISEASE$ with autism by Schaaf et al. (2013) Nature Genetics, 45: 1405-1408 show the wide range of phenotypic spectrum from lethal arthrogryposis multiplex congenital to autism spectrum disorder (ASD) and mild @PHENOTYPICFEATURE$ (ID).	false
+c60ed1f05eef89d8d6476f35b8363c69a5b4cdce	We report a female patient with @DISEASE$, presenting with the congenital form of the disease with thrombocytopenia, pulmonary interstitial thickening, and transient secondary neonatal @PHENOTYPICFEATURE$.	false
+c4577a646f268a8e14baea8b0c56763bb457b822	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (@DISEASE$), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia.	false
+2fcb0ec04229dd7f618d2e4a448e7e47bd607bfc	Neurosurgical treatment for @PHENOTYPICFEATURE$, subdural hematomas, and arachnoid cysts in @DISEASE$.	false
+bda41bd30cb0c085c5ef501a22830fa6f0e645b5	@DISEASE$ syndrome in a fetus associated with microtia, hemivertebrae, and @PHENOTYPICFEATURE$ on prenatal ultrasound.	false
+57debd416737bb1f62da3185ea7492d8e3cd45be	@DISEASE$ (DEH), or Trevor disease, is a rare @PHENOTYPICFEATURE$ characterised by an osteocartilaginous mass arising from an epiphysis.	false
+5e2d410954e8652683097ec652fb83d7691ab90f	Dysplasia epiphysealis hemimelica (DEH), or @DISEASE$, is a rare @PHENOTYPICFEATURE$ characterised by an osteocartilaginous mass arising from an epiphysis.	false
+1884ae141079f7974f61e7729a8c76d64bbfd806	@DISEASE$ is a rare skeletal developmental disorder representing an osteocartilaginous @PHENOTYPICFEATURE$ arising from 1 or more epiphyses during childhood.	false
+516988b58d544b596b6d1fcbe11725d4d4d22aae	@DISEASE$ - an epiphyseal developmental disturbance of the skeleton - is combined with exostose-like, @PHENOTYPICFEATURE$-simulating cartilaginous hypertrophy of bone tissue, mainly located at the epiphyses of the lower extremities and at the tarsal bones.	false
+7874a3098468223185a2190ad0d2bd94e44f5b94	@DISEASE$ is a rare developmental bone dysplasia characterized by an osteocartilaginous @PHENOTYPICFEATURE$ arising from an epiphysis.	false
+0adc950a3f6df9f36957c18de5b017aced05e3b0	We report a patient with severe varus deformity and tibial shortening caused by @DISEASE$ (DEH), a rare skeletal developmental disorder characterized by an osteocartilaginous @PHENOTYPICFEATURE$ arising from an epiphysis in young children.	false
+68cd95916cd3e8085df9c4dbb125795ef5613824	@DISEASE$ (DEH) is a rare @PHENOTYPICFEATURE$ with epiphyseal involvement first described by Mouchet and Belot in 1926.	false
+42416deb033fe3e97ed35e96b2b02bf5a4567298	Ten patients with progressive encephalopathy, bilateral @PHENOTYPICFEATURE$ and @DISEASE$ were described.	false
+76a440000d2e481143178e563d818ae8036e43aa	These include @PHENOTYPICFEATURE$, L1 syndrome, Joubert syndrome and related disorders, @DISEASE$, Kallmann syndrome, albinism, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+40eea444e4602752d159bce3b1e22553d0a63796	Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via @DISEASE$ to spastic ataxia and pure hereditary spastic paraplegia; (2) Muscular/cardiac presentations; (3) Skin symptoms mostly represented by syndromic (neurocutaneous) and non syndromic ichthyosis; (4) Retinal dystrophies with syndromic and non syndromic retinitis pigmentosa, Leber congenital amaurosis, cone rod dystrophy, Stargardt disease; (5) Congenital bone dysplasia and segmental @PHENOTYPICFEATURE$ disorders with congenital lipomatosis; (6) Liver presentations characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations.	false
+b7171af7713cca4989b51d1ea0e7b0534c93b435	The phenotype differences from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, @DISEASE$, @PHENOTYPICFEATURE$ type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary heart-hand syndrome.	false
+9ea80010f4e6ff3e32bde9eea751de1fa102ddac	@DISEASE$ with dysmorphic facies and @PHENOTYPICFEATURE$ caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.	false
+4b9618d138ed4f224ffa44b447c103900ccd73e6	We suggest that the @DISEASE$ phenotype in conjunction with the characteristic facial changes and @PHENOTYPICFEATURE$ observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes.	false
+b275f9c7e97834d91b7fb362be3775c564c6b2ce	We report on a girl presenting with an @DISEASE$ like phenotype, a dysmorphic facies, and @PHENOTYPICFEATURE$.	false
+bc5cc3687e4fde0dab19adb76257c78bc7fdda9c	Three patients had developmental @PHENOTYPICFEATURE$ accompanying @DISEASE$.	false
+7f8812678f0a9f48e4d31f6b095e0a8b23837ca5	To evaluate the effect of distraction osteogenesis in correction of @PHENOTYPICFEATURE$ accompanying @DISEASE$ (OSAS).	false
+e64216a5f7a633c58a809abfcde7d4fc53d9d7bc	Temporomandibular joint (TMJ) ankylosis in pediatric patients is rare and may cause severe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ffc7b735e13b5e81c7093039f037cfc21fc37e1c	Distraction osteogenesis in correction of @PHENOTYPICFEATURE$ accompanying @DISEASE$.	false
+f2554756cea7fa3ce39f6db9915874551261d8c3	Observation revealed severe @PHENOTYPICFEATURE$ as the major cause for @DISEASE$.	false
+36a141439994290c5b2a5ac1a33aa36b9257d3fd	Therefore, the authors conclude that mandibular distraction osteogenesis is an effective method for correcting @PHENOTYPICFEATURE$ accompanying @DISEASE$.	false
+3eca721920dc4f8bbbbf91e33575543936a22def	Orthognathic surgery correction of @PHENOTYPICFEATURE$ accompanying @DISEASE$.	false
+6f39bc996d1ee33ce036d6011de7c0c98f7d2f82	Fifteen patients with @PHENOTYPICFEATURE$ and @DISEASE$ (OSAS) are presented.	false
+21f7e15fa26e6cc37596093ef50d7f998fbd7afe	[Treatment of distraction osteogenesis in the patients of @DISEASE$-hypopnea syndrome with @PHENOTYPICFEATURE$].	false
+456ea3baf622b66c601b953f00d1e474093d7595	To examine the surgical correction methods for treating cases of severe @PHENOTYPICFEATURE$ accompanying @DISEASE$ (OSAS).	false
+d31f5abd870971d9f008fd165ed7affe8d2cfc02	A young male with @DISEASE$ who had previously required a left leg amputation died in @PHENOTYPICFEATURE$ and sepsis.	false
+3d0ff7afa241ed52cfbbf65153914a079d7f0421	@PHENOTYPICFEATURE$ and mesenteric ischemia associated with @DISEASE$ progression was diagnosed.	false
+89e50c913ca84d85010d4547ab57838463199883	Dominant mutations in STIM1 are a cause of three allelic conditions: @DISEASE$, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, @PHENOTYPICFEATURE$ and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome.	false
+187ca316da1db1c070502c512690f9e3ea20c5c6	A Thai girl with @DISEASE$ and @PHENOTYPICFEATURE$ was seen.	false
+3ffeee0058628f67c59551bb5d3b019402f60f1c	Cleidocranial dysplasia (CCD) is an autosomal dominant @DISEASE$ associated with cranial, clavicular, and @PHENOTYPICFEATURE$.	false
+d01d0560995eab9e9a9773f83241054c46902711	Short-rib @PHENOTYPICFEATURE$ dysplasia (SRP) is an autosomal recessive, lethal @DISEASE$.	false
+40121b781bed6425ada7b219cff7eebafaf3ae85	Cleidocranial dysplasia (CCD) is an autosomal dominant @DISEASE$ associated with clavicle hypoplasia and @PHENOTYPICFEATURE$.	false
+fbee1e4b56851a1a0fa159e21f5dd7aa167269ac	Ellis-van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of @DISEASE$, @PHENOTYPICFEATURE$, ectodermal dysplasia, and cardiac anomalies.	false
+ec0e30137919e01a81303981fe199bd196d5f2b3	Ellis-van Creveld syndrome (EVC), a very rare genetic @DISEASE$, is clinically characterized by a tetrad consisting of chondrodystrophy, @PHENOTYPICFEATURE$, ectodermal dysplasia, and cardiac anomalies.	false
+5f8499e2f09481b91d1c9e82868e1bac35ab3392	We present a previously undescribed @DISEASE$ with @PHENOTYPICFEATURE$ and ectopic neural tissue in the internal auditory meati.	false
+f05672af67e533d29957881bbe7e69d74cbcb735	Classical EVC syndrome comprises a tetrad of clinical manifestations of @DISEASE$, @PHENOTYPICFEATURE$, ectodermal dysplasia, and cardiac defects.	false
+9f4f37cda8b85e484342a48ca3e1fc024dc5d83f	Hug mutants exhibit multiple birth defects typical of ciliopathies, including @DISEASE$, @PHENOTYPICFEATURE$, craniofacial anomalies, kidney cysts and eye defects.	false
+b4759ef527560aaf4754c736be66d13c0cec077d	Hug mutants exhibit multiple birth defects typical of ciliopathies, including @DISEASE$, polydactyly, craniofacial anomalies, @PHENOTYPICFEATURE$ and eye defects.	false
+2e213a9a4b1fd86ba98f84a2068e69e4bac4b66f	Diagnostic problems in a case with mucometrocolpos, @PHENOTYPICFEATURE$, congenital heart disease, and @DISEASE$.	false
+552f9135443b60df342137a03b7fb4e6833e7126	Short-rib @PHENOTYPICFEATURE$ syndrome is an autosomal recessively inherited lethal @DISEASE$.	false
+80a1c7cfd2607e3d1fa50ce67ee845e9d104e15d	We present a case report on a woman with hereditary @DISEASE$ exclusively treated with UPA for myoma-related menorrhagia and @PHENOTYPICFEATURE$, who subsequently underwent a hysterectomy because of clinical worsening.	false
+5248b143875a2518758c35fb30086c844e55028c	Chronic @PHENOTYPICFEATURE$ in women can have adverse effects on reproductive function, such as @DISEASE$, but it has been difficult to dissociate the effects of epilepsy from the role of antiepileptic drugs.	false
+3b089365645a259685078a2799764dbdddf30033	Low serum SHBG levels are considered a biomarker of @PHENOTYPICFEATURE$ and are related to insulin resistance (IR), compensatory hyperinsulinemia and abnormalities in glucose and lipid metabolism in @DISEASE$ patients.	false
+3f6caeb1a5d4f54d6f504f9ba91ccfe55cdc5bdd	A putative relationship between valproic acid and @DISEASE$: implications for treatment of women with @PHENOTYPICFEATURE$ and bipolar disorders.	false
+53fc1ba06e9aed05883f703a1c25d4a841107bc0	As a result of @PHENOTYPICFEATURE$ changes in hypothalamic and pituitary hormone secretion occur, resulting in hyperprolactinemia, menstrual disorders, premature ovarian failure as well as occurrence of @DISEASE$ (PCOS).	false
+79b16f488f430cf9a85f107f6ac544b6238caa6a	Presence of @DISEASE$ is described in a @PHENOTYPICFEATURE$ woman who later developed features of manic-depressive illness.	false
+ccc3219c9ce7db7da33a1ef5d4542a5ea5b83815	@DISEASE$, manic-depressive illness and @PHENOTYPICFEATURE$.	false
+eef89572d18cb73e6545d67f0c890bdd82725571	The relationship between @PHENOTYPICFEATURE$, hormones and anticonvulsant medication in women is explored, focusing on issues such as catamenial epilepsy, the menopause, hormone replacement therapy and the @DISEASE$.	false
+720fa08b8c73217b9541c638cbb1be92656cbeb1	[@DISEASE$: an unusual cause of lower limb @PHENOTYPICFEATURE$].	false
+5d015a2282e1c34048d7f558eaa84af731f5efaf	The phenotypic spectrum is likely to expand and includes @PHENOTYPICFEATURE$ of the lower extremities in addition to nuchal @DISEASE$.	false
+1b2373acfabb6075a342fa5d55adb583fc957830	All of the patients had underlying conditions that predisposed to SP: @PHENOTYPICFEATURE$, anatomic abnormalities (one with an intrathoracic @DISEASE$ and one with a cystic adenomatoid malformation of the lung), bronchiolitis, and two patients with Pneumocystis carinii pneumonitis.	false
+c83ec9672d067a8ea83a37d09e75e47addb6135c	nodules, @PHENOTYPICFEATURE$ and @DISEASE$ in the lateral neck.	false
+cf02ae07e4267625bebf6b8a3c11edf209e7ec1d	In the second pregnancy, @PHENOTYPICFEATURE$ and fetal @DISEASE$ were noted on ultrasound at 17 weeks' gestation.	false
+de3353930753157f6dfa5d14fccf140bfe687829	In contrast with the most severe phenotype of classical Lesch-Nyhan disease (LND), the least severe phenotype is characterized by hyperuricemia without any neurological or @PHENOTYPICFEATURE$, and designated @DISEASE$ (HRH).	false
+3861f75b9ffef014eff655a5a1db2467dc122f11	Of 89 patients receiving nightly subcutaneous deferoxamine for transfusion-dependent thalassemia major or @DISEASE$ presented with visual loss or @PHENOTYPICFEATURE$ of acute onset or both.	false
+33af42c72e67ddd7d014c304d14c2ea4333bce73	A new case of @DISEASE$ with mild mental retardation, asymmetry of limbs, and @PHENOTYPICFEATURE$.	false
+23078b86920406dc692d35709569afca2f5c9e8d	@DISEASE$ (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+13d5ac95db73dc74e67100fe02d69c723a3e44bc	We report a case with features of @DISEASE$ and congenital marked @PHENOTYPICFEATURE$, suggesting overlap between these two genetic disorders.	false
+96c3ca7f276c78a9769b71a72ddcaff5e8f57931	Congenital marked hypertrichosis and @DISEASE$ in a child: overlap between the gingival fibromatosis-@PHENOTYPICFEATURE$ and Laband syndromes.	false
+c0d755523c6cab4741ef75cf18de9319a16d2e1f	Congenital marked @PHENOTYPICFEATURE$ and @DISEASE$ in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.	false
+68e19eb7d60b3e863712b26dbabbe3eb3d5a0dd9	presented with gingival hyperplasia, @PHENOTYPICFEATURE$, unusually large ears and marked hypertrophy of the nose, characteristic of the @DISEASE$ (ZLS).	false
+29ad66ca5d0b5f2ffc7c8e4de5e05de7ec7892aa	@DISEASE$ (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, @PHENOTYPICFEATURE$ and intellectual disability.	false
+2e6fd09631361445592d0f91ef9d470005040e44	@DISEASE$ (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and @PHENOTYPICFEATURE$.	false
+c95e41d94cf5ef42b469294f7f37fe1e12e4298b	@PHENOTYPICFEATURE$ has not yet been described in @DISEASE$ as far as we know.	false
+c2450bc8308e607d7498742910b29900a21820f0	@DISEASE$ features craniofacial and skeletal anomalies, @PHENOTYPICFEATURE$, and neurobehavioral abnormalities.	false
+9afc9c6ce855b392427f4be15e99b7d0c3b2e329	involving PITX3 in a 17-year-old male with a @DISEASE$-like phenotype, including mild @PHENOTYPICFEATURE$, sleep disturbance, hyperactivity, and aggressive and self-destructive behavior.	false
+306c304248a7db81c96454e02e72e0c90b0fc6ff	@DISEASE$ (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, @PHENOTYPICFEATURE$, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behaviors.	false
+e46c8fbd2dc2df16b0a4105d832ceea1522be449	@PHENOTYPICFEATURE$ in a boy with @DISEASE$.	false
+f4cd3f6382f8c24767b500bf1cb5c883530699c6	The purpose of this study was to describe the auditory phenotype of a large cohort with @DISEASE$ (SMS), a rare disorder including physical anomalies, @PHENOTYPICFEATURE$, sleep disturbances, and a distinct behavioral phenotype.	false
+0ea04c871b302b5e490afa3f61d9dedbe2e912f0	interstitial microdeletion commonly seen in @DISEASE$ (SMS), which is characterized by developmental delay, @PHENOTYPICFEATURE$, and facial and behavioral phenotype.	false
+7cd8105082e82552805327d92cb1f2f7869816dc	Clinical features of @DISEASE$ are non-specific and can range from being asymptomatic to symptoms of congestive heart failure, @PHENOTYPICFEATURE$, and systemic thromboembolism.	false
+aef60b9765612b09761e28007ee9f34e60b85df0	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, @PHENOTYPICFEATURE$ of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+d30ef1ac6433f90020180277b1dcbb0ef3d9d23c	Facial features of @DISEASE$ include hypertelorism and telecanthus, high arched eyebrows, @PHENOTYPICFEATURE$, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance.	false
+9c8afa09278d85bb5f21436b42ffb1b1f497a6c9	Lenz microphthalmia syndrome (@DISEASE$) is a genetically heterogeneous X-linked disorder characterised by @PHENOTYPICFEATURE$/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+b3f287e290da9ba58f9dc137376ec514d15fc154	Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (@DISEASE$) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+ccd34b5a9b664a8d7074e966b1de03aa53d62921	Hemianopia and @PHENOTYPICFEATURE$ due to @DISEASE$ in natalizumab-treated multiple sclerosis.	false
+6292f4ee7b23e9c25cd85d766c02f463e6c19c3b	Though progressive multifocal leucencephalopathy (@DISEASE$) may manifest with visual impairment, including bilateral @PHENOTYPICFEATURE$ as the presenting manifestation, in single patients, it has not been described in association with left ventricular hypertrabeculation/noncompaction (LVHT).	false
+953563b0b1ed2fa101a70b09222afec2103d0af4	Docetaxel (DTX) is an effective commercial anticancer agent for chemotherapy in non-small cell lung cancer (NSCLC), breast cancer, @DISEASE$, and prostate cancer, but its adverse effects including @PHENOTYPICFEATURE$, neurotoxicity, and hair loss limit its application.	false
+094f03806655e2de955c980443bb9011e1e983d5	We encountered a patient in whom pericardial effusion caused subcutaneous @PHENOTYPICFEATURE$ in the trunk and lower limbs after percutaneous pericardial drainage was applied to treat carcinomatous pericarditis associated with @DISEASE$.	false
+4ef3a343a6aec3350c531bc372097cbe629b5cde	M?n?trier's disease, a rare hyperproliferative disorder of the stomach, is associated with chronic abdominal pain, vomiting, weight loss, and @PHENOTYPICFEATURE$, as well as an increased risk of @DISEASE$.	false
+a4bb1383c562395a3fec18c7ba2e3f1286189529	A case of a stage IB @DISEASE$ associated with spontaneous @PHENOTYPICFEATURE$ of both hands is reported.	false
+cdabf3e4f2a69a7c2fd40a95c1a433d5a513562b	Although the association of @DISEASE$ with @PHENOTYPICFEATURE$ may be coincidental, it may be part of a paraneoplastic syndrome.	false
+33cf31f7dd165433405d9aacba97064af2b4daa7	Retroperitoneal fibrosis in a patient with @DISEASE$ manifested by lower extremity @PHENOTYPICFEATURE$ and hydrocele.	false
+b65de901e92acd08357f13d87d1388c629a82f4c	The symptoms and signs in each syndrome type of @DISEASE$ were ranked in order of priority as follows: distended pain, stringy pulse, eructation, mood-related pain, susceptibility to anger, acid regurgitation, hiccup, fullness sensation or distension after eating just a little, dizziness, thin pulse, abdominal enlargement, obstruction sensation after eating, moving pain, and uneven pulse in disharmony between liver and stomach; dark red tongue with little fur or a smooth surface, burning pain, rapid pulse, associated burning heat in anus, dry mouth, fissured tongue, thin pulse, tidal fever in the afternoon, nausea and vomiting, and night sweating in impairment of yin due to stomach heat; slender tongue fur, obstruction after eating, slow pulse, moderate pulse, rapid and irregular pulse, normal mood, abdominal pain, diarrhea, cold extremities, lower-extremity @PHENOTYPICFEATURE$, cold intolerance, pale complexion, dizziness, emaciation, hiccup, silence, nausea, uneven pulse, acid regurgitation, fullness sensation or distension after eating just a little, vomiting, and constipation in deficiency-cold in spleen and stomach; uneven pulse, stabbing pain, tortuous sublingual vein, blue or purplish tongue, fixed pain, tarry stool or dark red stool, vomiting of dark red fluid, pale complexion, dry mouth without desire to drink, stringy pulse, white tongue fur, nausea, thin tongue fur, colic pain, hiccup, dizziness, acid regurgitation, bitter taste in mouth, slow pulse, rapid and irregular pulse, thin pulse, and pain relief by pressing in interior retention of toxin stagnation; slippery pulse, greasy and thick tongue fur, dry mouth without desire to drink, vomiting of bilious fluid, nausea, bitter taste in mouth, fullness sensation or distension after eating just a little, colic pain, and hiccup in stagnation of phlegm-dampness; abdominal pain relief by pressing, map-like tongue, thin pulse, weakness, yellowish complexion, dizziness, spontaneous sweating, fissured tongue, epigastric discomfort, night sweating, emaciation, cold intolerance, constipation, nausea, and dry tongue in deficiency of both qi and blood.	false
+223212240344f2e08739192b917aa4f52e939e16	Massive @PHENOTYPICFEATURE$ due to @DISEASE$: another variety of diffuse low attenuation on CT scans.	false
+0bac51a98e9888dc760d60341190b676cebd19c2	Ulmus macrocarpa Hance (Ulmaceae) has been used as a traditional oriental medicine for the treatment of @PHENOTYPICFEATURE$, mastitis, @DISEASE$ and inflammation.	false
+f0e0afa098e14fc5fece0a33f28e96d061fda199	@DISEASE$ (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and @PHENOTYPICFEATURE$.	false
+0535bab460db57289e908ba44270ac8b221eb3fc	@DISEASE$ is a congenital disease that combines microspherophakia and @PHENOTYPICFEATURE$.	false
+2c87a26a5b5108fcf25f188c7dc29195d3aaa1c1	@DISEASE$ (WMS) is a well-characterized disorder in which patients develop eye and @PHENOTYPICFEATURE$.	false
+b6e38b07c8b613f7386eb3b8a42bfe2d03b30f12	Association of the ADAMTS17 mutation with possible pedal @PHENOTYPICFEATURE$ in MBTs supports PLL in this breed and @DISEASE$-like disease in humans as being homologous diseases.	false
+03b62a696474598b2a74e90c26e2ef2d4fd0e853	Cells positive for @DISEASE$gamma were found only in semen samples from patients diagnosed a priori with testicular neoplasms and, surprisingly, in a 23 year old control subject with oligozoospermia and no symptoms of a germ cell @PHENOTYPICFEATURE$.	false
+acacc4ad727c2184fb38f1707c885fedf6bf5580	In experimental systems @DISEASE$ factors possess tumor suppressor-like activities, and alterations in the AP-2 expression pattern have been described for some @PHENOTYPICFEATURE$ entities.	false
+a241f091553719d377acc43ce373ff5c4439f00d	In experimental systems @DISEASE$ factors possess @PHENOTYPICFEATURE$ suppressor-like activities, and alterations in the AP-2 expression pattern have been described for some tumor entities.	false
+88fbd1fd6f9da9df651e9c59243e0010cb3cacea	Expression of @DISEASE$ transcription factors in breast cancer cells supports proliferation and contributes to chemo- and radiation-resistance of @PHENOTYPICFEATURE$ cells by impairing the ability to induce apoptosis.	false
+750c899a655e737c8dc62bfc299c3e8b60751f0b	In conclusion, our data provide evidence that AP-2alpha is an important in vivo negative regulator of MUC4 expression in human pancreatic tissue and that @DISEASE$alpha may play a @PHENOTYPICFEATURE$-suppressive role in pancreatic DAC.	false
+c3981802076eca7af36b86381772563ff3e42c65	@DISEASE$gamma overexpression negatively influenced @PHENOTYPICFEATURE$ incidence, as reflected by a reduced tumor number and a prolonged tumor latency.	false
+ea15a5df7f8bf8cd9a442253d9318345b77a209b	@DISEASE$gamma overexpression negatively influenced tumor incidence, as reflected by a reduced @PHENOTYPICFEATURE$ number and a prolonged tumor latency.	false
+af27f3e6629e5ba3ea5b64bf63dd4a72886bb740	@DISEASE$gamma overexpression negatively influenced tumor incidence, as reflected by a reduced tumor number and a prolonged @PHENOTYPICFEATURE$ latency.	false
+f1db4bd03b1c3d686a3ef747080e97634d359688	We present the case of a germline heterozygous NRAS mutation producing a severe phenotype involving @DISEASE$, severe @PHENOTYPICFEATURE$, and numerous melanocytic nevi in addition to more typical manifestations of Noonan syndrome.	false
+b101b39177d398c7fdae2cf246c9a928ec5f1210	Interestingly, hnRNPK has been found to associate with the Kabuki-like syndrome and @DISEASE$ with prominent @PHENOTYPICFEATURE$.	false
+b8d611b3d4f172c6376c9bc64b99a86d1c9e5ee2	@DISEASE$ or Brunauer-Fohs-Siemens syndrome is an autosomal dominant condition that presents with linear @PHENOTYPICFEATURE$ on the palms and fingers and focal plaques on the plantar aspects of the feet.	false
+5f5860df851513891c8e708b6b47046641ddb738	@DISEASE$ (SPPK; OMIM #148700) is a rare autosomal dominant genodermatosis characterized by linear hyperkeratosis on the digits and @PHENOTYPICFEATURE$ on the palms and soles.	false
+33b11119bd6872512c8305ed7964b33f2e4c0ec5	@DISEASE$ (SPPK; OMIM #148700) is a rare autosomal dominant genodermatosis characterized by linear @PHENOTYPICFEATURE$ on the digits and hyperkeratosis on the palms and soles.	false
+3d5fbcfe5d700fa647b857d45acfc5ad715ec198	Sensitivity of adrenal glands to adrenocorticotropic hormone in animals with @DISEASE$ @PHENOTYPICFEATURE$.	false
+3ed6e48d1ba3f627e133098882b33033e29e5270	[The characteristics of the psychoprophylaxis, treatment and rehabilitation of patients with @DISEASE$ @PHENOTYPICFEATURE$ at an industrial enterprise].	false
+d7144c4c6891dc2326897052694cd73d2d2181c6	[Work capacity and characteristics of homeostasis in patients with metabolic-@DISEASE$ @PHENOTYPICFEATURE$].	false
+ebad9793127079bc46309fae8999243d99f68cd5	This fall was even more pronounced in patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+69a38fb194d60bccf4c2b1fc27b4e13430dc4eb7	Emotional and behavioral reactions in experimental animals with @DISEASE$ @PHENOTYPICFEATURE$.	false
+45a415a7bf3e3026d4ffe83952c63ccdef6f04f8	A total of 150 patients with @DISEASE$ @PHENOTYPICFEATURE$, stage I-IV, were investigated.	false
+e801c651456806def0b19359cae7ecca7d50534d	@DISEASE$ @PHENOTYPICFEATURE$ (AO) is considered as an independent risk factor for preeclampsia (PE).	false
+e7abf24a362916b6902c5676d6781d3d92fb9162	Under observation were kept 150 patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+46bd8219c9bc8c432e7a6d7fe9d36e56258df650	Protein metabolism was studied in patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+6075398fef0ab3e70f8448995cd35624d1d1a9c3	[Reducing-diet therapy of patients with arterial hypertension associated with @DISEASE$ @PHENOTYPICFEATURE$].	false
+36ea84dc2600bf0e55d8c07d945c189a01bab70b	@PHENOTYPICFEATURE$ and respiratory infections in the first decades of life are recognized as risk factors for development of COPD, but when patients present with COPD as adults, underlying primary @DISEASE$ may be unrecognized.	false
+d527e5a91ab0884763b2b7e85a47d6d003c3173f	Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause @PHENOTYPICFEATURE$ and retinitis pigmentosa in @DISEASE$ (USH1F).	false
+a7a519eb4d377668d7d0ec08aae71e47aecdb68c	The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause @DISEASE$ (USH1F) and two missense mutations have been previously associated with isolated @PHENOTYPICFEATURE$ (DFNB23).	false
+76dbf0afd58a08af86964346592d0442fb41e46a	Loss of function variants in the PCDH15 gene can cause @DISEASE$, an autosomal recessive disease associated with profound @PHENOTYPICFEATURE$, vestibular dysfunction, and retinitis pigmentosa.	false
+29560e6e8b9018a32f951cf83b62e752597c0ac1	In humans, mutations in PCDH15 cause @DISEASE$ (USH1F) and non-syndromic @PHENOTYPICFEATURE$ DFNB23.	false
+101b22dab5527eaaa0e2efbaf8bb7ed8cf675d01	Mass spectrometric and Western blot analyses identify the tip-link antigen, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye, as an avian ortholog of human protocadherin-15, a product of the gene for the @PHENOTYPICFEATURE$/blindness @DISEASE$/DFNB23 locus.	false
+1a2c99308bbc24160b42719e6c701f547b45a125	The patient, a 19-year-old woman, has a multiple congenital anomaly syndrome with severe developmental and @PHENOTYPICFEATURE$, muscular hypotonia, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and @DISEASE$.	false
+8ae3b1be6f6991a6032c6cf91590e79b938e5f2b	Description of type 2 @DISEASE$ affecting hands and feet, a bilateral, @PHENOTYPICFEATURE$, alterations such as keloid-like scarring, congenital heart disease, and cryptorchidism with no relevant family history.	false
+40e3b32a87891598dccd7d301ab6e33713a2b68e	Main clinical features were mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, @DISEASE$, white hairlock, and @PHENOTYPICFEATURE$.	false
+9bf56c9cceb22ec1d17e730db0e96a433c9874b5	Main clinical features were mental retardation, peripheral neuropathy, @PHENOTYPICFEATURE$, Hirschsprung disease, @DISEASE$, white hairlock, and growth retardation.	false
+1553c32a57b2d75af1c7dc9088177cda81907c1f	@DISEASE$ with double compartment @PHENOTYPICFEATURE$.	false
+da495f0a936129a12fb6e1b938fbcdf5fa7a5d0b	Pregnancy was terminated at week 21; autopsy of the fetus revealed bilateral @PHENOTYPICFEATURE$, brain microcalcifications and @DISEASE$.	false
+68b9104949d5b0ef03c5e69d13320a6916ee220c	To define the mutation type in a clinically suspected Egyptian child with @DISEASE$ (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with @PHENOTYPICFEATURE$, long philtrum, small pinched nose and pursed mouth.	false
+a9e54a6fafd9baa039679548e25240ee255a5277	micro duplication characterized by micro array CGH in a dysmorphic infant with @PHENOTYPICFEATURE$, developmental delay and @DISEASE$.	false
+7b20c8266363f4dd42b8b6ee2569129db11d33ae	Dravet Syndrome is a rare @DISEASE$ characterised by epileptic seizures, @PHENOTYPICFEATURE$ and motor disorders.	false
+d8c70f67114f9cf3eb6d41c5e484bd664ff2e6e1	High-frequency electrocoagulation is effective for treating @DISEASE$ through coagulating the aberrant blood vessels in the tumor, interrupting the vascular endothelial cell, blocking the aberrant blood flow, as well as leading to atrophy and absorption of @PHENOTYPICFEATURE$ mass.	false
+fc191410a1d8a6b11b883409d1b183aebf12db85	High-frequency electrocoagulation is effective for treating @DISEASE$ through coagulating the aberrant blood vessels in the @PHENOTYPICFEATURE$, interrupting the vascular endothelial cell, blocking the aberrant blood flow, as well as leading to atrophy and absorption of tumor mass.	false
+b51fae08561f1143914181d4163fd36c7ec73088	In IH-P, IH-NP, and @DISEASE$ @PHENOTYPICFEATURE$ sections, both ADBR1 and ADBR2 were co-localized in both endothelial cells (ECs; GLUT1(+) in IH; CD31+ in NICH) and pericytes (smooth muscle actin).	false
+ce00ab61fee26332308ecf5d5568f3a01d46d1af	Postnatally, the @PHENOTYPICFEATURE$ either involutes quickly (i.e., rapidly involuting congenital hemangioma [RICH]) or partially regresses and stabilizes (i.e., @DISEASE$ [NICH]).	false
+ae0e06e963459fd3ea656657d38889f11e2a972c	These rare congenital @PHENOTYPICFEATURE$ have been designated rapidly involuting congenital hemangioma (RICH) and @DISEASE$ (NICH).	false
+7fa93aced3e8b94f14d05ccdea585a2741050a6c	Though spinal @DISEASE$ is the most common spinal @PHENOTYPICFEATURE$, the intramedullary neurinoma is extremely rare.	false
+fc99012b797e47ba9f56f7424c2d1d1a4e112da8	Though spinal neurinoma is the most common spinal @PHENOTYPICFEATURE$, the intramedullary @DISEASE$ is extremely rare.	false
+d681cf1e46d80574ab360bb1c91eeb65b3900239	Tracheal @DISEASE$: a rare tracheal @PHENOTYPICFEATURE$.	false
+af2db58203a66bc1b30b681458da37af3c974fae	[@DISEASE$, a rare retroperitoneal @PHENOTYPICFEATURE$].	false
+6b44638b7ffcc15ce11cf7de0487b19c2fa1ec5d	Diaphragmatic @DISEASE$ (schwannoma) is an extremely rare @PHENOTYPICFEATURE$ that is often discovered incidentally.	false
+d2b21851b4a75e2ffc7dc9b794b332579d6c462c	Diaphragmatic neurilemmoma (@DISEASE$) is an extremely rare @PHENOTYPICFEATURE$ that is often discovered incidentally.	false
+79c2161ed9c45b03c551d4832a3de42691b3f8e4	It was caused by a benign @PHENOTYPICFEATURE$, originating in the nerve sheath, called @DISEASE$ (schwannoma, neurinoma).	false
+84e56bd0fa6e85762e889aff8e38404f516f2990	It was caused by a benign @PHENOTYPICFEATURE$, originating in the nerve sheath, called neurilemmoma (@DISEASE$, neurinoma).	false
+ba214209c61c03587141a1775328b0d51f47bdab	It was caused by a benign @PHENOTYPICFEATURE$, originating in the nerve sheath, called neurilemmoma (schwannoma, @DISEASE$).	false
+807d2b2f5de91f573c1fd1cc0a2599c04784c40a	The ultrastructural aspect of these @PHENOTYPICFEATURE$ was @DISEASE$ or schwannoma.	false
+0d907a514fa54b01c4232b96f9f6474c00652b62	The ultrastructural aspect of these @PHENOTYPICFEATURE$ was neurinoma or @DISEASE$.	false
+0d334caa532a6aeaedb20e9fa0de3347efc83b69	It was caused by a neurilemmoma (schwannoma, @DISEASE$), a benign @PHENOTYPICFEATURE$ originating in a nerve sheath.	false
+b79e90c07a31bae5cc8c0914f6f054f86fb34421	It was caused by a neurilemmoma (@DISEASE$, neurinoma), a benign @PHENOTYPICFEATURE$ originating in a nerve sheath.	false
+64e51b26eebbe0312149965cc86810dbf77fae5b	It was caused by a @DISEASE$ (schwannoma, neurinoma), a benign @PHENOTYPICFEATURE$ originating in a nerve sheath.	false
+7bd6d638ff2ca108e1992c280f1037c1f3fdbe9a	Neurilemmoma are benign @PHENOTYPICFEATURE$ of the nerve-sheath, also known as @DISEASE$.	false
+0d29454befb500fb8469487fb4d647eb753a771f	@DISEASE$ are benign @PHENOTYPICFEATURE$ of the nerve-sheath, also known as schwannoma.	false
+5b27c0192171f0a02e262f8ead5df0fb6effe480	@DISEASE$, neurinoma or schwannoma is a benign @PHENOTYPICFEATURE$ of neurogenic origin, arising from the myelin sheath of a neuron.	false
+89fa0c21ee7a01101f495f4dfdb967c145691be3	Neurilemmoma, neurinoma or @DISEASE$ is a benign @PHENOTYPICFEATURE$ of neurogenic origin, arising from the myelin sheath of a neuron.	false
+472e5b95232d50f962b2100111169fff98a926ab	Neurilemmoma, @DISEASE$ or schwannoma is a benign @PHENOTYPICFEATURE$ of neurogenic origin, arising from the myelin sheath of a neuron.	false
+de8ef11b738ab14871818bdbdd474a1720b17d80	Schwannoma or @DISEASE$ is a neurogenic @PHENOTYPICFEATURE$.	false
+33bfdc6dd4b8bf1b8c197f1ff8eeed6aa632837e	@DISEASE$ or neurilemmoma is a neurogenic @PHENOTYPICFEATURE$.	false
+7ef130e8dbb0f558387e186d4a49aa813c58bf11	Five other potentially affected family members had @PHENOTYPICFEATURE$ or facial palsy of uncertain aetiology in the absence of other stigmata of @DISEASE$.	false
+f85f47347f568fa1cd1a30fe158523aa12b354a5	Relatively low severity of tinnitus, normal hearing, fluctuating @PHENOTYPICFEATURE$, and some signs and symptoms of @DISEASE$ are believed to constitute predictors of successful treatment outcome.	false
+c899e0b482aa5770908f2abb2c03c84fa0eefb57	Relatively low severity of @PHENOTYPICFEATURE$, normal hearing, fluctuating tinnitus, and some signs and symptoms of @DISEASE$ are believed to constitute predictors of successful treatment outcome.	false
+4d6f788b4fa318b7c56e6cf97dbddd7df7bbf5c8	Report on a patient with @DISEASE$, @PHENOTYPICFEATURE$, Dandy-Walker malformation and leukodystrophy.	false
+5673f2b7e840a56634dff7b5e72b94953e41edd3	No significant correlation was established between the groups receiving treatment and the control group that would validate a link between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3a41dac2dd0b3933bb48a8678fedbb77ab10fb4f	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or tinnitus, investigates the correlation between specific diagnoses of @DISEASE$ with otalgia or @PHENOTYPICFEATURE$, and estimates the effects of treatment of CMD on these ear symptoms.	false
+6258cb02dd716a9b33697d83cd388e642645c88d	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or @PHENOTYPICFEATURE$, investigates the correlation between specific diagnoses of @DISEASE$ with otalgia or tinnitus, and estimates the effects of treatment of CMD on these ear symptoms.	false
+4a30255c95128e9cb78105fbfae5b60a76133808	The present study evaluates the connection between craniomandibular disorders (@DISEASE$) and otalgia or @PHENOTYPICFEATURE$, investigates the correlation between specific diagnoses of CMD with otalgia or tinnitus, and estimates the effects of treatment of CMD on these ear symptoms.	false
+5c2eeb0ea3cf4b300430decc08bfe7e7b1dbe2a7	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or tinnitus, investigates the correlation between specific diagnoses of CMD with otalgia or @PHENOTYPICFEATURE$, and estimates the effects of treatment of @DISEASE$ on these ear symptoms.	false
+7c54e68083953172e6374d71cee0c58f932522ff	The present study evaluates the connection between craniomandibular disorders (@DISEASE$) and otalgia or tinnitus, investigates the correlation between specific diagnoses of CMD with otalgia or @PHENOTYPICFEATURE$, and estimates the effects of treatment of CMD on these ear symptoms.	false
+4cd748132a3df24655be7b92b767847bc8af1aed	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or @PHENOTYPICFEATURE$, investigates the correlation between specific diagnoses of CMD with otalgia or tinnitus, and estimates the effects of treatment of @DISEASE$ on these ear symptoms.	false
+bd12232481c4d4bc5b5f5220149f9af5df3ae1c9	Several findings indicating a relatively strong relationship between @DISEASE$, @PHENOTYPICFEATURE$ and subjective hearing loss were noted.	false
+8283f98e50cb86350b4b22786b836ef2270da015	A case of Fukuyama-type @DISEASE$ (FCMD) associated with @PHENOTYPICFEATURE$ was reported.	false
+8392b1114a207246a680164bceff24841389885b	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) @DISEASE$ patients with @PHENOTYPICFEATURE$ (n = 8 = 3.8%) (one patient with tinnitus and otalgia).	false
+411e17a0c529816266110fa77133ea7460ea89e4	According to their complaints, the patients could be divided into three groups: (1) @DISEASE$ patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) CMD patients with @PHENOTYPICFEATURE$ (n = 8 = 3.8%) (one patient with tinnitus and otalgia).	false
+4ac6e4ee9e2d07169c03f3ab19ec4b01de71884f	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) @DISEASE$ patients with otalgia (n = 80 = 37%), and (3) CMD patients with tinnitus (n = 8 = 3.8%) (one patient with @PHENOTYPICFEATURE$ and otalgia).	false
+77a0300e7261ff47ed7d62a8537584943417c85f	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) @DISEASE$ patients with otalgia (n = 80 = 37%), and (3) CMD patients with @PHENOTYPICFEATURE$ (n = 8 = 3.8%) (one patient with tinnitus and otalgia).	false
+9a9e3a22c554c8e69e6ec635c3835be22ca87c5f	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) @DISEASE$ patients with tinnitus (n = 8 = 3.8%) (one patient with @PHENOTYPICFEATURE$ and otalgia).	false
+659f6481c14e1184dbebe000f87478800fe2f42e	According to their complaints, the patients could be divided into three groups: (1) @DISEASE$ patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) CMD patients with tinnitus (n = 8 = 3.8%) (one patient with @PHENOTYPICFEATURE$ and otalgia).	false
+27e54fd1037d52ca2930ed5318962b93d374748c	[A case of @DISEASE$ associated with @PHENOTYPICFEATURE$--CSF dynamics and surgical treatment].	false
+d1bdbe45d94fe89a7a703d24a7a3435a6540c922	A theoretic model of causal connections between @PHENOTYPICFEATURE$ and signs and symptoms of @DISEASE$ in some tinnitus patients is suggested.	false
+7eb4a03934c208dddfcf751aedbb125eef2334ee	@DISEASE$ is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects, and @PHENOTYPICFEATURE$.	false
+34032fb6eef19146b38641dfa4d36cf9be62ec40	@DISEASE$ presenting with rapidly progressing muscle weakness and @PHENOTYPICFEATURE$.	false
+00b054649bbe156d0f2a6e0d40b42ed5bfee7a0f	The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by @PHENOTYPICFEATURE$, congenital cataracts and renal @DISEASE$.	false
+cfc807611a7b10e78508a108e8cf02eb71dc4ad0	The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, and renal @DISEASE$.	false
+755ed96016379718111133fa79701dca43b30026	Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, @PHENOTYPICFEATURE$ and renal @DISEASE$.	false
+9a779c50194d29cb8247d3f05cfeceaed2042fe9	Oculocerebrorenal Lowe syndrome is a rare X-linked disorder characterized by bilateral cataract, @PHENOTYPICFEATURE$ and renal @DISEASE$.	false
+8188149456ae61f517fe111fb7824ec115cec6b4	Lowe (oculocerebrorenal) syndrome (LS) is an X-linked disorder characterized by congenital cataracts, generalized hypotonia, @PHENOTYPICFEATURE$, and renal @DISEASE$.	false
+38d14710dedf4addc62620de6d88cb70496d1ea5	Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, @PHENOTYPICFEATURE$, and @DISEASE$ of the proximal renal tubules.	false
+0a492527bef88bc95dee71b4ef3234c40aa5a476	Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts, renal @DISEASE$, and @PHENOTYPICFEATURE$.	false
+fb5dbf848d1e1b4dd99428727da016dfbf322af3	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include @PHENOTYPICFEATURE$ and renal @DISEASE$.	false
+993c2b47221b227acf7b2429fac6d4eaa0e1ab5a	The Lowe oculocerebrorenal syndrome (OCRL; McKusick 309000) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$ of the renal tubules.	false
+8684c4c9c0fbd33738a204725b913218d714ed9c	The Lowe oculocerebrorenal syndrome (OCRL; McKusick 309000) is an X-linked disorder characterized by congenital cataracts, muscular hypotonia, @PHENOTYPICFEATURE$, and @DISEASE$ of the renal tubules.	false
+e32661f734577aeada68255ea195d2da8da3001e	The @DISEASE$ associated with hepatic glycogenosis and @PHENOTYPICFEATURE$ of galactose.	false
+bf3fdf92c27205eb9a97208840e2062b1a351629	However, ICP and @DISEASE$ were only modestly changed even after severe ICH and @PHENOTYPICFEATURE$.	false
+4f3b5c1caa46babafe382ad14fa569b20c54567a	It shows similarities to Bardet-Biedl syndrome and @DISEASE$, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', @PHENOTYPICFEATURE$ and small penis without testicular anomalies.	false
+66c7a44491271f17a02ae52da7e3b1fd86c86471	@DISEASE$ is an inevitably lethal genetic disease characterized by a progressive hyperkinetic @PHENOTYPICFEATURE$ and cognitive and behavioral abnormalities as well as acanthocytosis.	false
+c744282a08588cab7d4785f95e92fb560d85a073	@DISEASE$ (ChAc) is an uncommon basal ganglia disorder, in which the @PHENOTYPICFEATURE$ element may be obscured by the predominance of seizures.	false
+d50ceb88658232233015c95d6151278b491ccc95	Differential diagnosis, medication management of the @PHENOTYPICFEATURE$, and pathophysiological mechanisms in tardive dyskinesia and @DISEASE$ are discussed.	false
+556ca3a0fb91f69b60a9a5cbd42aa508d9a92dfb	Loss of function mutations of the chorein encoding gene VPS13A lead to @DISEASE$, an autosomal recessive genetic disease characterized by @PHENOTYPICFEATURE$ and behavioral abnormalities.	false
+9c6f4c4591b25c9d92a6909094c977e7b7341c8c	The term "neuroacanthocytosis" is normally used to refer to autosomal recessive @DISEASE$ and X-linked McLeod syndrome, but there are other @PHENOTYPICFEATURE$ in which erythrocyte acanthocytosis may also be seen, such as Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration.	false
+cf48699b6134de2643699f6e6c9ae6d2501d029e	Self-mutilation in @DISEASE$: Manifestation of @PHENOTYPICFEATURE$ or psychopathology?	false
+5b54939249a82ebf965597a5a931aec9c1744681	@DISEASE$ (ChAc) is one of the neuroacanthocytosis syndromes which form a group of disorders characterized by the association of @PHENOTYPICFEATURE$ and spiculated red blood cells called acanthocytes.	false
+125a27980bb4a870facd4eaefca6e5066f1b562a	@DISEASE$ is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, @PHENOTYPICFEATURE$, neuropathy, seizures, and acanthocytosis.	false
+92d4b6101a20e28243ebc842559801ea93067832	The findings in the patients without acanthocytes indicate that the biochemical abnormalities may be related to a @DISEASE$-like, amyotrophic extrapyramidal @PHENOTYPICFEATURE$ with axonal neuropathy.	false
+cf022f5d7b2877bb12b7447537b0bbf2080873fa	A 37-year-old female with a hyperkinetic @PHENOTYPICFEATURE$ due to @DISEASE$ developed severe painful degenerative arthritis of her left knee as a consequence of repetitive involuntary flexion and extension dystonic and ballistic movements.	false
+104c5d6f154754d61f06150d636337f81b1d9a5a	Magnetic resonance imaging volumetric findings in children with @DISEASE$, nonverbal learning @PHENOTYPICFEATURE$, or healthy controls.	false
+37db4870d89b3e5ca1a1bcfc64c7d2932f4568b4	@DISEASE$ (AS) is characterized by social deficits and restricted interests in the absence of @PHENOTYPICFEATURE$ and language delay.	false
+1a323457e34ca09f6d2231d8d01262233372e295	Persons with "@PHENOTYPICFEATURE$" may suffer from @DISEASE$].	false
+be4ba9888b35e1a5d4bb27878a9aab5313005440	Belief term development in children with autism, @DISEASE$, specific @PHENOTYPICFEATURE$, and normal development: links to theory of mind development.	false
+918aec477b5fbc06c244a566aea77e441a1ed393	Some patients demonstrated additionally @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a4dd28e1322966d474e183fe55f4a4b463fae258	Differences in assertive speech acts produced by children with autism, @DISEASE$, specific @PHENOTYPICFEATURE$, and normal development.	false
+c8a3078fcbd9154d22d1ff8b1a8c6fb968f18976	Sleep disorders can affect daytime functioning in a variety of neurodevelopmental @PHENOTYPICFEATURE$ as autism, attention deficit hyperactivity disorder and @DISEASE$.	false
+20dc4d6fd66d76da6a006cf3309e7de4fcd9fc92	This is the case not only for children diagnosed as having impairments such as autism spectrum disorder, @DISEASE$ (AS), or mental retardation but also for children falling into diagnostic categories traditionally considered to be primarily language based (e.g., @PHENOTYPICFEATURE$, learning disability).	false
+ba216a5613e7c8ef6037c0bc5142521769c1ce8e	This is the case not only for children diagnosed as having impairments such as autism spectrum disorder, @DISEASE$ (AS), or @PHENOTYPICFEATURE$ but also for children falling into diagnostic categories traditionally considered to be primarily language based (e.g., language impairment, learning disability).	false
+ba5f95cbc8810d190d791ab1943d860c913510ef	In the family with GEFS+, one individual was affected with panic disorder and @PHENOTYPICFEATURE$, and another individual was diagnosed with @DISEASE$ and seizures.	false
+c84238ccd8a9cb63827e8ec374f3e11bac742232	In the family with GEFS+, one individual was affected with panic disorder and seizures, and another individual was diagnosed with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dd2cce08c0359672d68ea7668cb5c95d07585eb0	Frequency discrimination is important with regard to basic sensory processing affecting phonological processing, dyslexia, measurements of intelligence, auditory memory, @DISEASE$, and specific @PHENOTYPICFEATURE$.	false
+0fc263a48c0bee7077882ae85280ce88b7a18577	@PHENOTYPICFEATURE$, bone change and @DISEASE$ are often observed.	false
+8f19019a4550fe78862d15e734de6717d61921f7	The @DISEASE$ is an entity in its clinical presentation, distinct from other syndromes with proximal symphalangism and @PHENOTYPICFEATURE$.	false
+e7792f6aa65815f122bb7074809d6b70793a41e7	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized @DISEASE$ changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+8fa2f33a0f7e63b9ed9e1c1ad864f9ac2d8607e3	The following postictal changes of the @DISEASE$ were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+535f70691ebcd24392675a27a972153e65eca2f3	A hallmark of @DISEASE$, a rare autosomal recessive disorder, is @PHENOTYPICFEATURE$ characterized by a silver-gray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft.	false
+efd07a7d88eb4d3f9e0bcaf1c4a2bceafd7a6adc	Some diseases such as those resulting in bleeding and pigmentation disorders (@DISEASE$), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (tuberous sclerosis), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+68d44313d26a40555d378f56ee63549743befbcb	@DISEASE$ (GS) is a rare autosomal recessive disorder associated with skin or @PHENOTYPICFEATURE$, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities.	false
+79963f8c2dc51af4e6f92faa5c48dccf0fde260f	To report the case of a girl with @PHENOTYPICFEATURE$ and hypertension, ultimately diagnosed with Cushing syndrome due to @DISEASE$.	false
+52d97aeaa6ccae37b18f2ac0c5d9001be7edbf16	While the coexistence of @DISEASE$ and a @PHENOTYPICFEATURE$ may have been purely coincidental, it is plausible that the isolated lesion in this patient was due to ischemic changes from underlying rheologic conditions, possibly in association with a variation in the neural or nutrient vessel supply to the EHL.	false
+682c7460e953cd8766b0d5a4ee64498668e6cca3	Wilson disease (9.3%), tyrosinemia (7.4%), neonatal @PHENOTYPICFEATURE$ (4.7%), congenital hepatic fibrosis (3.7%), and @DISEASE$ (1.9%).	false
+246db756b754a225e0d62f6f43d989b8c12a1b42	The indications were primary sclerosing cholangitis (PSC, n?=?4), congenital hepatic fibrosis (CHF, n?=?2), alpha-1 antitrypsin deficiency (A-1 ATD, n?=?2), progressive familial intrahepatic cholestasis (PFIC, n?=?2), cystic fibrosis (n?=?1), primary biliary cirrhosis (PBC, n?=?1), neonatal @PHENOTYPICFEATURE$ (n?=?1), embryonal sarcoma (n?=?1), @DISEASE$ (n?=?1), hepatocellular carcinoma (HCC, n?=?1), and chronic rejection after liver transplantations for PSC (n?=?1).	false
+a649b06b5f43354476c2778e8a97574f86ab7d25	Nonspecific cutaneous xanthomas have occasionally been reported with a variety of leukemias, mostly in the pediatric literature, but the first report (to our knowledge) of @DISEASE$ presenting with specific cutaneous @PHENOTYPICFEATURE$ lesions appeared in 1982.	false
+0f962e2d15e2fd325a90531435cf7780a2398b7f	In a family with ataxia and pancytopenia, the proband had @PHENOTYPICFEATURE$, developed hypoplastic anemia at age 3 years, and died of @DISEASE$ at age 7. Serial cytogenetic studies of the proband's hypoplastic bone marrow over a 25-month period revealed progressive expansion of a clone of cells with C(6 - 12 + X) monosomy from 33% to 94% of metaphases.	false
+3a7793668c3231215ca9e32d42848444cd494e27	In a family with @PHENOTYPICFEATURE$ and pancytopenia, the proband had cerebellar ataxia, developed hypoplastic anemia at age 3 years, and died of @DISEASE$ at age 7. Serial cytogenetic studies of the proband's hypoplastic bone marrow over a 25-month period revealed progressive expansion of a clone of cells with C(6 - 12 + X) monosomy from 33% to 94% of metaphases.	false
+1b99aff7cc02d1ad78441bee8044e5d3baeb7886	Both genes are hemizygous in @DISEASE$, an 11q contiguous gene deletion disorder involving thrombocytopenia, @PHENOTYPICFEATURE$, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated with recurrent ear infections.	false
+3a62aa38d236ee91c93421aa1b1cdb8382aaf798	Clinical features of @DISEASE$ include @PHENOTYPICFEATURE$, congenital heart defects, digit anomalies and mild to moderate psychomotor retardation.	false
+107a6896dc6a1c3758924d57d8092cb81c50f358	deletion, associated with malformations, hematologic features, and typical @PHENOTYPICFEATURE$, observed in @DISEASE$ (JS), except for intellectual disability (ID).	false
+e600a459267017eb340d7c2d6eb179ff2b2c7dc6	11q23 deletion syndrome, also known as @DISEASE$, is characterized by growth retardation, psychomotor retardation, @PHENOTYPICFEATURE$, multiple congenital abnormalities, and thrombocytopenia.	false
+abb3a82fba3cbbc96ca56fd6445740bbd7be433a	causes a "partial @DISEASE$ phenotype" including congenital heart disease, @PHENOTYPICFEATURE$, intellectual disability, and attention deficit hyperactivity disorder.	false
+a7bedd95215ee346c61a728b17e22ac27d76118c	To our knowledge, sexual ambiguity has not previously been reported in @DISEASE$ so far, and @PHENOTYPICFEATURE$ is also apparently rare in the syndrome.	false
+f14a80eeecaeea39ed42bcfc3755f053ea5c1b05	Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of @PHENOTYPICFEATURE$, and deficient growth in Proteus and Elattoproteus syndromes, @DISEASE$ of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica.	false
+4bebf571f3accab3f7cceb71068bbbde44c12859	In the presence of @PHENOTYPICFEATURE$, the need for diagnosis and therapy is just as great in children with @DISEASE$ as in children with combined cleft types.	false
+94b98594270cfc3375d4c8f2687e91d0392ad2ce	New phenotype of adult @DISEASE$ (mucopolysaccharidosis I) masquerading as Friedreich's @PHENOTYPICFEATURE$ with cardiopathy.	false
+477200e0a3a91cf3eecd21e6ba0ac41c14084efb	Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and @DISEASE$-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, @PHENOTYPICFEATURE$, and ocular abnormalities as well as arthrogryposis in the infected fetuses.	false
+87e19236c5f3ff3bb1a60a4d634a0ef43167242c	The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, @DISEASE$, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 @PHENOTYPICFEATURE$.	false
+47679281fdc2d354820ddf786c1945e7faa74a85	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and @DISEASE$ (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and @PHENOTYPICFEATURE$, developmental delay/mental retardation, and tumor predisposition.	false
+81ffeeec7760a02e74acd5e69a76d2f602134675	@DISEASE$ (peroneal muscular atrophy) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral @PHENOTYPICFEATURE$.	false
+35d18b15422d9206a55bf57a786b2337ba344b35	Charcot-Marie-Tooth disease (@DISEASE$) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral @PHENOTYPICFEATURE$.	false
+cff0173f76bad0e49b8a53c419f9aac46865dd5f	@PHENOTYPICFEATURE$ and @DISEASE$: combination of two independent genetic diseases?	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+5db5f53aaaeb546342098caa5488ba63344a6f3b	Charcot-Marie-Tooth (@DISEASE$) disease is a well-known neural or spinal type of @PHENOTYPICFEATURE$.	false
+2f371e9f2377a37c69a0a766f0a4db8a73dc20e0	@DISEASE$ is a slowly progressive @PHENOTYPICFEATURE$ affecting the distal parts of the lower limbs.	false
+a0d76c05d0d082f3f2044e636a10d9f2d26b9a1a	[Deafness as a symptom of neural @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+77abe8b47ccb75aee5ac6e8f08030abe97600df9	@PHENOTYPICFEATURE$, nail dystrophy, and @DISEASE$: an autosomal dominant trait.	false
+b743894d39d07adeaf8299ad0473595273f08d99	@PHENOTYPICFEATURE$ and @DISEASE$ during anesthesia.	false
+d640e2ae04fa3ac9a19cb2bd99ded4b279ce0e88	[The nosological situation of hereditary motor and sensory neuropathies (HMSN, @DISEASE$, neural @PHENOTYPICFEATURE$)].	false
+33ec3b946349040b7d05eaa5cd28743826d05de2	[The nosological situation of @DISEASE$ (HMSN, Charcot-Marie-Tooth disease, neural @PHENOTYPICFEATURE$)].	false
+e913ddede8d446ef6fb8bc90dc19b18e81e1111c	Risk factors for @PHENOTYPICFEATURE$ in survivors with severe @DISEASE$.	false
+04712c6d8b8b21e9116fd3bd8dd9e541cceeca5c	Infants with @DISEASE$ (CDH) are at high risk of @PHENOTYPICFEATURE$ (SNHL).	false
+fcbe85859b78e0df2c0f9da4287f4426d89d363f	We report on a 6-year-old male child displaying an association of @DISEASE$ (CDH), lung hypoplasia, corneal clouding and coarse face in the absence of distal digital/@PHENOTYPICFEATURE$.	false
+5461fe83e390a9faa519c81d19b71ff51a368879	The fetus in the second case presented bilateral choroid plexus cysts, @DISEASE$, and @PHENOTYPICFEATURE$ on ultrasound at 18 gestational weeks.	false
+b064da36e7bc9848e8434a01a8b324769eddbc88	Our series revealed a lower prevalence of @PHENOTYPICFEATURE$ in high-risk congenital diaphragmatic hernia survivors than in other studies, suggesting that the association between hearing loss and @DISEASE$ has yet to be accurately defined and fully elucidated.	false
+5f90f8e9310bc87dd4228c8c95751a19c4ff8361	@PHENOTYPICFEATURE$ (CHL) is also known to occur in @DISEASE$ patients, but has been less widely studied.	false
+dab678a6d22c7d04549cc069832f24ef700676f6	@PHENOTYPICFEATURE$ (SNHL) is a significant neurologic morbidity in survivors of neonatal @DISEASE$ (CDH), with a reported incidence of up to 60%.	false
+fca19de8f4371919bdd57b7fef26a178a56ab905	Although congenital diaphragmatic hernia (@DISEASE$) may be associated with @PHENOTYPICFEATURE$ (SNHL), to our knowledge, no studies have yet identified the pattern of this hearing loss or definitive independent risk factors that may place this population at higher risk.	false
+8fa33c3bb1f28644844ab9297aa88f6cde974ba7	An individual preoperative severity scale was established for AHASIT patients, with one point for each of the following preoperative complications: prematurity, low body weight, cyanosis, intolerance to drug therapy, failed interventional treatment prior to admission, mechanical ventilation prior to the procedure, chronic respiratory failure and non-cardiac, mainly congenital malformations (@DISEASE$, lower extremity agenesia, duodenal atresia) and acquired problems (newborn edema, necrotic enterocolitis, intracranial hemorrhage, liver and renal failure, @PHENOTYPICFEATURE$ and thrombocytopenia, infections or colonization with drug-resistant pathogens).	false
+8492488a2e8b29d6f6e93592086d9648c298aea1	An individual preoperative severity scale was established for AHASIT patients, with one point for each of the following preoperative complications: prematurity, low body weight, cyanosis, intolerance to drug therapy, failed interventional treatment prior to admission, mechanical ventilation prior to the procedure, chronic respiratory failure and non-cardiac, mainly congenital malformations (@DISEASE$, lower extremity agenesia, duodenal atresia) and acquired problems (newborn edema, necrotic enterocolitis, intracranial hemorrhage, liver and renal failure, anemia and @PHENOTYPICFEATURE$, infections or colonization with drug-resistant pathogens).	false
+5a70b094cd1bf27e12ef4dea6ebee0758f48d5d7	A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with @DISEASE$ (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, cleft palate, congenital heart defect, @PHENOTYPICFEATURE$, and dysmorphic facial features.	false
+1c63bc5f1c3a1168d9f0ec099b00fbb9acc7b8c7	@DISEASE$ is a disorder that is characterized by attacks of @PHENOTYPICFEATURE$, cyanosis, redness, and numbness in the upper extremities caused by vasospasm of digital arteries due to cold or emotional stress.	false
+5a8e5656a0cf4b196cb394455b01b5270550b0eb	In this patient, intense non-paroxysmal facial @PHENOTYPICFEATURE$ caused by TSN, subjectively dominated over other manifestations of SS, including @DISEASE$, for at least 1.5 years, thus hampering the diagnosis of the primary disease.	false
+227a80817540ed8aa4b80075ad415bd763fb8236	This supports previous data regarding Leigh syndrome being on the severe end of a phenotypic spectrum including @DISEASE$, childhood-onset dystonia, bilateral striatal necrosis, and @PHENOTYPICFEATURE$, depending on the proportion of mutant heteroplasmy.	false
+d6bee0be9ebdf56d9a10176878bd40f6754f3b7a	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and @DISEASE$.	false
+41c518907bffce6df50831e2119a3a9726ce8884	Owing to a wide @PHENOTYPICFEATURE$ spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of @DISEASE$ is often delayed in pediatric cancer patients.	false
+7d6335f43669818ac7a8343d551c02cf5ea6ee4c	@DISEASE$-associated @PHENOTYPICFEATURE$ harbored more somatic mutations compared to LS cases, especially in the TP53 gene and in POLE and POLD1, where novel mutations were additionally identified.	false
+03590192936f9a4a164501aa87dfae8f63398ed8	One example of such a syndrome is constitutional mismatch repair-deficiency, (@DISEASE$) which carries an increased risk of various tumors including childhood hematologic malignancies and Lynch syndrome associated @PHENOTYPICFEATURE$.	false
+68a422fe4ae355d613449cad48d0b8f98b80144d	One example of such a syndrome is constitutional mismatch repair-deficiency, (@DISEASE$) which carries an increased risk of various @PHENOTYPICFEATURE$ including childhood hematologic malignancies and Lynch syndrome associated tumors.	false
+6c964f25b28955c9d5eea589c4c1ad7e8656679b	MSI-target gene analysis revealed mutations in @DISEASE$-associated @PHENOTYPICFEATURE$, some of them known to be frequently hit in LS, such as RNaseT2, HT001, and TGF?R2.	false
+5a7a39ef37cfe79ec213f1cc2de4565d6185b6db	In addition to classical LS/HNPCC @PHENOTYPICFEATURE$, these families present with a high incidence of central nervous system (CNS) tumors normally associated with Turcot or constitutional mismatch repair deficiency (@DISEASE$) syndromes.	false
+771aa417a6d5998be0e348c4e6ff8fcc3f54b805	In addition to classical LS/HNPCC tumors, these families present with a high incidence of central nervous system (CNS) @PHENOTYPICFEATURE$ normally associated with Turcot or constitutional mismatch repair deficiency (@DISEASE$) syndromes.	false
+4c927b649177f4d15159a1701c3ef91c1955a0d9	The @PHENOTYPICFEATURE$ spectrum of @DISEASE$ includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours.	false
+bbb458fd387354fe36b944390d6eb295f29aa691	The tumour spectrum of @DISEASE$ includes haematological neoplasias, brain tumours and Lynch syndrome-associated @PHENOTYPICFEATURE$.	false
+0db862194973274448517ccfee14e568164f2760	By contrast, @PHENOTYPICFEATURE$ arising in @DISEASE$ patients are thought to display a somatic mutation pattern differing from LS.	false
+94532a2f37735f61cd845dd588552722b074e957	High mutational @PHENOTYPICFEATURE$ burden is typical of glioblastoma in @DISEASE$ patients and could be a reason why this type of glioblastoma responds well to immunotherapies, including those that employ checkpoint inhibitors.	false
+3cf749534a94eef6b0ea827124797988eb6b5dec	Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic @PHENOTYPICFEATURE$, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of @DISEASE$.	false
+b374738a99a8f12c35427270af3206e585a80020	Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the @PHENOTYPICFEATURE$ spectrum of @DISEASE$.	false
+578cd877831cba48c888f19654ded62b5bbe30ab	Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm @PHENOTYPICFEATURE$, belong to the tumour spectrum of @DISEASE$.	false
+b2ce53be8bb4358dc44f9fed4cc8828a1ae936f2	First reported case of alveolar soft part sarcoma in @DISEASE$ @PHENOTYPICFEATURE$ spectrum - diagnosed in one of the siblings with constitutional mismatch repair deficiency.	false
+c2ba88e73f4eef9c6bce70e776d030a624bb403c	To investigate the value of dynamic examination of duodenal fluid in the differential diagnosis of infantile hepatitis syndrome (@DISEASE$) and extrahepatic @PHENOTYPICFEATURE$ (EHBA).	false
+489bae725a1d6dd71c8dd42fd002b84ce965d996	This study aimed to investigate the value of the liver function test in the differential diagnosis of infantile hepatitis syndrome (@DISEASE$) and @PHENOTYPICFEATURE$ (BA) by analyzing seven conventional serological markers in this test using receiver operating characteristic (ROC) curves.	false
+8fa729c26b59123968e7ae7f286a1ff75fe872ad	To evaluate the ultrasonographic (US) features distinguishing @PHENOTYPICFEATURE$ (BA) from infantile hepatitis syndrome (@DISEASE$).	false
+fb238138aa5e91dc2c55c976213d1b40bfa6ecce	At CT, SPE and @DISEASE$ are characterized by single or multiple nodules with a surrounding ground-glass-opacity halo, AEP mimics radiologically hydrostatic @PHENOTYPICFEATURE$, and CEP is characterized by nonsegmental airspace consolidations with peripheral predominance.	false
+3648906ea37d85ac9115e25b549169108c06072b	In order to evaluate the value of magnetic resonance cholangiography (MRC) and dynamic examination of duodenal fluid in the differential diagnosis between extrahepatic @PHENOTYPICFEATURE$ (EHBA) and infantile hepatitis syndrome (@DISEASE$), 52 patients with infantile cholestatic jaundice were examined by MRC and duodenal fluid examination.	false
+756d359270b22e39bc2c88747bc5f205a9f3e36c	The most common causes of neonatal cholestasis are infantile hepatitis syndrome (@DISEASE$) and @PHENOTYPICFEATURE$ (BA).	false
+70f3ff4d7964a702324a42c72171c9690b588028	@PHENOTYPICFEATURE$ may be caused by @DISEASE$.	false
+6726f47b50cc770e00989d45aaa1bd2298902c9a	Labs showed @DISEASE$ and isolated @PHENOTYPICFEATURE$ (hemoglobin 7?g/dL).	false
+ea67022a4873c1b6fd9df2620c772c2f13e40ee4	"Idiopathic" POTS must be distinguished from other conditions that can reduce venous return to the heart and produce similar signs and symptoms such as dehydration, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+19d2a89f2c495425ce64f29e8b1e1e609b323354	Noncardiac diseases associated with DRVO in older cats included high cardiac output states (@DISEASE$, @PHENOTYPICFEATURE$, and inflammatory disease) and chronic renal failure with and without systemic hypertension.	false
+772ea39af2eab5f788ebff68057e4507ab51c63d	However, a number of medical disorders have symptoms that overlap with panic disorder symptoms, and elevated panic disorder prevalence is comorbid with a number of medical illnesses, including respiratory disorders, @PHENOTYPICFEATURE$, and @DISEASE$ and hypothyroidism.	false
+7bb54f6e6cb2af901f6c4f299ed97d234bf6e704	A patient with @DISEASE$ Graves' disease presented with @PHENOTYPICFEATURE$, leading to a workup for myasthenia gravis.	false
+b83712522f57b60c8c42e5ebb7b289a369337b72	Presenting with fever, cervical @PHENOTYPICFEATURE$ and subtle signs of @DISEASE$, subacute thyroiditis (De Quervain) represents often a challenge for an early recognition and an appropriate treatment.	false
+d6845f0461736475cf6f2a94748808d1e93c550e	These 6 patients had presented with @PHENOTYPICFEATURE$ symptoms and signs when @DISEASE$ was relieved with thiamazole therapy.	false
+f528f1dbd7a7840e56514959beddf100454bb0ed	Clinically, they may present with @DISEASE$, hypothyroidism, hypopituitarism, or @PHENOTYPICFEATURE$.	false
+1295c2149ec1e458d9ae1bc6f02b83fcef7ddb7f	This condition can be a result of overcorrecting @PHENOTYPICFEATURE$, @DISEASE$, and other causes.	false
+5c432baed4b540faa63fcc5aad0fc8db5b709e85	Correlates of the primary safety endpoint were age, anemia, @PHENOTYPICFEATURE$, multivessel disease, number of stents implanted, and use of a @DISEASE$ rather than a DCS.	false
+24da6350145508cd178b6b64f45906750d23283e	Evaluation of influence of @PHENOTYPICFEATURE$ on the coronary atherosclerosis development and clinical outcome in patients with STEMI treated by PCI with @DISEASE$ implantation.	false
+de256f1d22e075509f26196b0dc85bd5a3af9daa	We suggest that these genera are the candidates contributing to @PHENOTYPICFEATURE$ and diabetes improvement mechanism after @DISEASE$.	false
+a73942e80c7174a431a7c0d6978c5dacef426667	Recent studies have shown that thiazolidinediones reduce neointimal hyperplasia after bare metal stent (@DISEASE$) implantation, but this drug group sometimes cause fluid retention that may lead to @PHENOTYPICFEATURE$.	false
+882397e6c6273dd537f5a4ba57e6549ab11d58cf	This weight loss along with direct metabolic effects of @DISEASE$, result in a substantial and lasting improvement in many @PHENOTYPICFEATURE$-related comorbidities, notably metabolic ones, sometimes with complete remission.	false
+be23de040e770dc738d5cf67e14ea2292242e2ff	Multivariate cox regression analysis showed that older age, history of diabetes, history of @PHENOTYPICFEATURE$, history of stroke, and DES vs. @DISEASE$ were independent significant predictors of MACE.	false
+f7c50b8a9bc519c6f47ff801c298608899ce628b	@DISEASE$ and DES groups had similar baseline characteristics except for small but significant differences with BMS patients being somewhat older, having more males and African Americans, and a higher percentage of peripheral artery disease and @PHENOTYPICFEATURE$ while DES patients had a higher percentage of diabetics and patients with prior revascularization procedures.	false
+e8ed12a087249c4657dc2722cc15b4adc27636a1	BMS and DES groups had similar baseline characteristics except for small but significant differences with @DISEASE$ patients being somewhat older, having more males and African Americans, and a higher percentage of peripheral artery disease and @PHENOTYPICFEATURE$ while DES patients had a higher percentage of diabetics and patients with prior revascularization procedures.	false
+4cf1732ae4f1460e159db103c11a4d5707aec7b1	Cardiomyopathic hamsters with @PHENOTYPICFEATURE$ were administered vehicle or one of the following (30 mumol/kg i.v.): the ACE inhibitor enalaprilat; the NEP inhibitor SQ-28603; or @DISEASE$.	false
+2bdd85b01bff49de9e3aa09bc47c476b0896bfea	Despite consistently supportive evidence of clinical effectiveness and economic advantages compared with currently available non-surgical @PHENOTYPICFEATURE$ treatments, patient access to bariatric and metabolic surgery (@DISEASE$) is impeded.	false
+c67f54ae6fe73cf493ab6470d7bf5b7ca091be92	There is high-quality evidence that bariatric-metabolic surgery (@DISEASE$) generates positive health outcomes in patients with @PHENOTYPICFEATURE$ and type 2 diabetes (T2D).	false
+7fe75bfd1e39bb893c69d23f0b8824d704997617	These findings are consistent with @DISEASE$ being a developmental @PHENOTYPICFEATURE$.	false
+baa27c1dfca22f7cddf277fc0cbdc6be649003af	These children appear to have a distinct variant of @DISEASE$ with infantile cataracts, unusual facies, @PHENOTYPICFEATURE$, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.	false
+82e9df290797510bb18b45b5ed022faa98b3e727	The objective of this study was to analyse SWI and CE-SWI characteristics, i.e. the relationship between contrast-induced phase shifts (@DISEASE$) and intratumoral susceptibility signals (ITSS) and their association with @PHENOTYPICFEATURE$ volume in patients with glioblastoma multiforme (GBM).	false
+2db39f6c7c8705d07d45a3c9fe986d65a4cd8e0f	Mitochondrial cytopathy presenting as @DISEASE$ with progressive external ophthalmoplegia, ataxia and fatal @PHENOTYPICFEATURE$ epileptic status.	false
+ef245b3b691b1f576b15e5a146afac69a104867c	An 11-year-old girl with @DISEASE$ (type II) presented with @PHENOTYPICFEATURE$ disease.	false
+fdf78ffde63a8a2d6392a3988574eda17ee79c64	Histology identified the area with @DISEASE$ as the @PHENOTYPICFEATURE$ invasion zone, while the area with ITSS represented micro-haemorrhage, highly pathological vessels and necrosis.	false
+17efa170a917e6b618df960fa6b5ec39c913b719	In the multivariate model, we found that the increase in mortality associated with @DISEASE$ was only seen in patients with adenocarcinoma @PHENOTYPICFEATURE$ histology.	false
+ffe047be303a7c7e1d79aba05180338e00579aba	Differential diagnosis includes the other @DISEASE$ (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin @PHENOTYPICFEATURE$ like amelanotic melanoma.	false
+0e897ebaa0514d59dc5b541ab5c3359bea5c580c	ABNORMALITIES OF TYROSINE METABOLISM ARE DISCUSSED UNDER FOUR HEADINGS: (1) accumulation of tyrosine and its metabolites secondary to severe liver damage, @DISEASE$, etc.; (2) transient neonatal tyrosinemia; (3) hereditary tyrosinosis with hepatorenal dysfunction where elevation of tyrosine and methionine levels in the plasma may be a secondary manifestation of an unknown disease process; and (4) "essential tyrosinemia" or tyrosinosis without hepatorenal dysfunction which may represent a kkrimary fault in the metabolism of tyrosine.A new case of tyrosinosis without hepatorenal dysfunction in a 13-year-old @PHENOTYPICFEATURE$ girl is reported.	false
+5639d2346d1e22607fced04cd97cab49fc6a9b46	[Relation between @PHENOTYPICFEATURE$ and @DISEASE$].	false
+dddcb2bee0e492cbe4d1f98df9e918284c7b048a	The only patient with @DISEASE$ was a young girl with a history of @PHENOTYPICFEATURE$.	false
+16e86b23cc7b96f79bbcd25f61edddd3603d3fea	The causes of liver cirrhosis among @DISEASE$ patients were autoimmune hepatitis (n=3), cryptogenic (n=3), Wilson (n=1), PBC (n=1), @PHENOTYPICFEATURE$ (n=1), and HBs (n=1).	false
+232a85d77066c72c7225ca86473e65a592b9f67b	Her clinical course was further complicated by recurrent tamponade, atrial fibrillation, stress induced cardiomyopathy, @DISEASE$ and cardiogenic @PHENOTYPICFEATURE$.	false
+424156f19d8c8538e430ad3df68fe3bdd0c6c33e	However, additional important untoward effects of heparin therapy include @DISEASE$, heparin-associated osteoporosis, eosinophilia, skin reactions, allergic reactions other than thrombocytopenia, alopecia, transaminasemia, @PHENOTYPICFEATURE$, hypoaldosteronism, and priapism.	false
+24f7baf429cc82931da3b6c1f244f28ef26d3663	An 81-year-old man with previous syncopal episodes, progressive shortness of breath, @PHENOTYPICFEATURE$, severe calcific aortic stenosis, and a history of @DISEASE$ required aortic valve replacement.	false
+72e7ddd129a87526b73fe8cabb0f53651394978c	This girl has the multiple congenital anomalies that defines the WAGR syndrome (@DISEASE$, @PHENOTYPICFEATURE$ and severe mental retardation).	false
+375654f2352e6aca40825b1d83e352c3c7ff8498	Here, we report on an 8-year-old boy with @DISEASE$, polar cataract, and lens subluxation along with neuropsychomotor and @PHENOTYPICFEATURE$.	false
+25e1ae82c656e9c4cec234a961663f2834372463	Pax6 3' deletion results in @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+3364368f971fcbdacd7bc57104fff31284953def	While the Wilms tumor/genitourinary anomalies and @DISEASE$ are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and @PHENOTYPICFEATURE$ in WAGR syndrome remains unknown.	false
+007cbf7b8e912e724b60180b4dc6b2b066e724e1	We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, @DISEASE$, dysmorphic facial features, intrauterine growth retardation, and minor @PHENOTYPICFEATURE$.	false
+218a2a8294821f582f8e0ccddb196a5a5ae10173	We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral @DISEASE$), scrotal hypoplasia, undescended testes and @PHENOTYPICFEATURE$ who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene.	false
+8479c9e1af99ef3d9df12ccacba916d0025aa6a3	Two siblings with 46,XY DSD, congenital adrenal hypoplasia, @DISEASE$, craniofacial, and @PHENOTYPICFEATURE$ and intrauterine growth retardation: a new syndrome?	false
+797c5562458a8507ce1996dcca36fd3b1f04181d	Of the clinical reports currently published examining patients with intact PAX6 genes but harboring deletions identified in genes downstream of PAX6, 100% indicate phenotypes which include @DISEASE$, whereas approximately half report additional eye deformities, @PHENOTYPICFEATURE$, or intellectual disability.	false
+0c7152ef95cdcbe4833591346fe60422748f9395	This report emphasizes the association between @DISEASE$ and brain anomalies with or without functional impact, such as @PHENOTYPICFEATURE$ or auditory dysfunction.	false
+b331dee27619755fcef76009f65433e263ecd064	Here, we present mutation analysis of a patient with @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+1c1fe5c02487f57fd2078f8a4f673189bcf9f632	In closing, we replace non-islet-cell tumor @PHENOTYPICFEATURE$, an outdated and misleading label, with IGF-2-@DISEASE$, self-explanatory and consistent with names of other hormone-secreting tumors.	false
+de603fd8706457c56c26ee5ead8db094ec8a28e1	The different diseases of the transplants were: biliary atresia (9), Alagille syndrome (4), deficit alpha 1-antitrypsin (3), autoimmune hepatitis (2), neonatal @PHENOTYPICFEATURE$ (1), Byler disease (1), @DISEASE$ (1).	false
+fb38b6f5ca9a54c611f7d0360ba8be90c2316e38	Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-@PHENOTYPICFEATURE$-cleft lip or palate, ankyloblepharon-ectodermal defects-cleft lip and palate, Clouston syndrome, Goltz syndrome, Schopf-Schulz Passarge syndrome, and @DISEASE$) and 41 unaffected controls.	false
+287ee576645a76a7ca0e69964f676c0e05f39999	@DISEASE$, a rare condition displaying congenital craniofacial deformities and @PHENOTYPICFEATURE$, has been associated with over 20 known human connexin43 (Cx43) mutations.	false
+91e183dcf9688c92cee2e2db0c355c93f4ac4683	@DISEASE$ (ODDD) is a rare developmental disorder characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+45592aac97ea7ec9d6b90a6733a0690996142d4a	@DISEASE$ (ODDD) syndrome is an uncommon inherited disorder with eye and @PHENOTYPICFEATURE$, syndactyly, and defects in tooth enamel.	false
+901cf1bcce4408bc9c74ab5fc1a711199a88943e	@DISEASE$ (ODDD) is an autosomal dominant disorder involving eye and @PHENOTYPICFEATURE$, syndactyly, and enamel hypoplasia.	false
+6e082088098f6c9e0a47c48acea4345f790043fd	@DISEASE$ (hereditary motor @PHENOTYPICFEATURE$ type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues.	false
+2ff5817b35e15fb4faef14463e828ab6da95b9b7	@DISEASE$ (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, @PHENOTYPICFEATURE$, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues.	false
+bc6da85debcdb03bb682ee569486421080c853a1	@PHENOTYPICFEATURE$ in @DISEASE$ (heredopathia atactica polyneuritiformis).	false
+77bc1febcb9d6129d77378098d6a965084afb37f	@PHENOTYPICFEATURE$ in Refsum's disease (@DISEASE$).	false
+f89382e78931950d1c0436ff72acc63d3ae44fa9	@DISEASE$ (RD), a neurological syndrome characterized by adult onset retinitis pigmentosa, anosmia, @PHENOTYPICFEATURE$, and phytanic acidaemia, is caused by elevated levels of phytanic acid.	false
+7b378b3a97752e274ba59da7c12464ce15d2e232	@DISEASE$ (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, @PHENOTYPICFEATURE$, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes.	false
+520ae13a42653458dfe040fb0240cce51ba17f2f	@DISEASE$ is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, anosmia, @PHENOTYPICFEATURE$, ataxia, and an accumulation of phytanic acid in plasma and tissues.	false
+39019375731d9e04ec3c7ad1f16e74fed74d027d	Here, we utilized deep sequencing of 16S rRNA to implicate Actinomadura madurae as the cause of @DISEASE$ in a diabetic patient when culture and conventional molecular methods were overwhelmed by @PHENOTYPICFEATURE$ of other organisms.	false
+285ccd9850317780c771f5dc03586e2a6e5eef85	@PHENOTYPICFEATURE$ (@DISEASE$) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2.	false
+2bce7bf3bc03effc0a6bfd3d036f1e44d19c5344	@PHENOTYPICFEATURE$ distal renal tubular acidosis in salt-losing @DISEASE$.	false
+dbc24a1a77af9f949f5c33a34fe83c355a9fb7ec	@PHENOTYPICFEATURE$ (@DISEASE$) is an uncommon condition.	false
+690ca247e82239ed13703985408e7de98f6e9903	@PHENOTYPICFEATURE$ (@DISEASE$) is an autosomal recessive disorder associated with inborn errors of steroid metabolism.	false
+862c67e61fe0b16e26cd9cbfd4bec379dbbefa65	Testicular adrenal rest tumours (TARTs) are benign testicular masses that are found in inadequately treated patients with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+b88192d7b82b1b879b29a5cd5af07468477f037f	The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, @DISEASE$, trisomy 13, and the short rib-@PHENOTYPICFEATURE$ syndromes.	false
+0a3b94d776841cdde984eb60feaccc44a53510dd	This treatment might have resulted in some congenital malformations, such as ectrodactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+017823d85a28f52d133c8e0d5bf1a2aeecd6bb1f	Split hand/split foot malformation associated with      sensorineural deafness, inner and @PHENOTYPICFEATURE$, @DISEASE$, congenital vertical talus,      and deletion of eight microsatellite markers in      7q21.1-q21.3.	false
+a314e711aafa2383f8df8f8be710e51df7d55f00	Here, we report an extremely rare case of non syndromic occurrence of dental manifestations like multiple dens invaginatus, generalised microdontia, generalised hypoplasia, @DISEASE$, pulp stones and widening of pulp chamber along with skeletal findings of bilateral syndactyly of legs and @PHENOTYPICFEATURE$ of hands and legs.	false
+a7559fc16eeaf4e836d0a9113c755ee393b48054	Here, we report an extremely rare case of non syndromic occurrence of dental manifestations like multiple dens invaginatus, generalised microdontia, generalised hypoplasia, @DISEASE$, pulp stones and widening of pulp chamber along with skeletal findings of bilateral @PHENOTYPICFEATURE$ of legs and brachydactyly of hands and legs.	false
+9aa1dad6eaf087050d569e38a31dab680e0fc424	Cleft lip/palate-@DISEASE$-@PHENOTYPICFEATURE$-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.	false
+b4b68e04aa8cd9f5750291450589a7ac7517d1a8	Leukoencephalopathy with @PHENOTYPICFEATURE$, @DISEASE$, and hypomyelination.	false
+29a222bd4ec6ab4723b3d78ea57b618bdbfb4240	ADULT syndrome is characterized by ectrodactyly, @PHENOTYPICFEATURE$, and excessive freckling, in addition to more typical ectodermal defects, including @DISEASE$, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	false
+a65a21f4855ee375639669c382b3006b67ac619a	Characterization of the first intragenic SATB2 duplication in a girl with @PHENOTYPICFEATURE$, nearly absent speech and suspected @DISEASE$.	false
+dc113af164298a987d0a34f6fde7f4478e16a0ce	Topic areas included dental disability; initial diagnosis; global @PHENOTYPICFEATURE$; oral health aspects of dental treatment (orthodontics, @DISEASE$, anodontia, implants); and case studies of selected treatment options.	false
+b53785fe8fa480e6f4627c3f7eef8ca81529ba64	Topic areas included dental @PHENOTYPICFEATURE$; initial diagnosis; global disability; oral health aspects of dental treatment (orthodontics, @DISEASE$, anodontia, implants); and case studies of selected treatment options.	false
+7436a45e64ee060eb95f6d9e8c0d28525bf9ccef	Micrognathia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6a728304161820eb7b2da8df5dc30a5b3c72db08	The most commonly diagnosed anomalies were @DISEASE$, retinopathy, and @PHENOTYPICFEATURE$.	false
+f4a6ed63cd57d8dd3d785fe2f9535f16c25ee1ea	A male infant with ornithine transcarbamylase (@DISEASE$) deficiency is described who was relatively symptom free for 4 months, gradually developed severe spasticity due to @PHENOTYPICFEATURE$, and died at 13 months of age.	false
+c60bf7f44287d51541167c07b3d5196c2c3553d9	In this report we review the present state of knowledge regarding the use of bisphosphonates during childhood to ameliorate the @PHENOTYPICFEATURE$ associated with osteogenesis imperfecta, @DISEASE$, fibrous dysplasia of bone and cerebral palsy.	false
+f5bb7c01341ae6de8f5f8edf86bb7e2148d7a46c	A patient with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and porencephalic cysts.	false
+009d808473f6f16f16ed724fa806a0036e90eddf	We reported an autopsy case of panencephalopathic type of @DISEASE$ (CJD), one of whose early clinical signs, @PHENOTYPICFEATURE$, had been documented by magnetic resonance imaging (MRI).	false
+a84d96c57be6b587e8ca027a29baad0fcdd7d68e	We reported an autopsy case of panencephalopathic type of Creutzfeldt-Jakob disease (@DISEASE$), one of whose early clinical signs, @PHENOTYPICFEATURE$, had been documented by magnetic resonance imaging (MRI).	false
+645a3cf0dcf8cf9b2c72cb71cd6261b52a51cdaa	Progressive @PHENOTYPICFEATURE$ and areas of high signal intensity in the cerebral cortex and basal ganglia are well-known features of @DISEASE$ depicted on T2-weighted magnetic resonance (MR) images.	false
+cfdbe5c486a9c29e4683e82bbe348de9ba65040f	A case of @DISEASE$ following @PHENOTYPICFEATURE$ surgery: sporadic versus iatrogenic cause.	false
+3c355c081b1c757807c7791f8e9ddbed2456a7d3	A case of early @DISEASE$ presenting with acute bilateral @PHENOTYPICFEATURE$.	false
+c1c2dccc7fb84c504364741acf756fd8c0616f80	We report a 64-year-old man diagnosed with @DISEASE$ three months after @PHENOTYPICFEATURE$ surgery.	false
+c0b83c09e57e3d85b9cd710066fa61f0b3cf2a40	Preceding @PHENOTYPICFEATURE$ surgeries have been reported with @DISEASE$, but there is no proven causality.	false
+77259092f81ed310e71975debe7d9634ff62d713	Dysfunction of ?B is closely related to @PHENOTYPICFEATURE$, and many neurodegenerative diseases including Alzheimer's, Parkinson's, and @DISEASE$.	false
+04efb1a72edd7208e679d750bd1f993825ea8f5c	@DISEASE$ presenting with visual blurring, diplopia and @PHENOTYPICFEATURE$: Heidenhain's variant.	false
+91209301dea1fe28ff3902e235d6994aa00f400e	Oligodontia (severe partial @DISEASE$) is a developmental @PHENOTYPICFEATURE$.	false
+fd8ffde8df6f657e4b564ac5c4b641f0e1a8443e	In this group, supernumerary deciduous teeth (2.83%), giroversion of permanent teeth (2.31%), and partial @DISEASE$ (1.82%) were the most frequent @PHENOTYPICFEATURE$.	false
+99b6a9bb338b1d068574d121c687d9d099f98d10	He was 4 years old, yet undiagnosed with short bones, @PHENOTYPICFEATURE$, partial @DISEASE$ and ventricular septal defect.	false
+6bbb6057a01d83e7f5c727828d0aa1daf7d46100	Pseudocystic radiolucent lesions, thinning of cortex, @DISEASE$ and @PHENOTYPICFEATURE$ were more prevalent in type III Gaucher patients.	false
+fd3e0c1e09ba4c18e6a5c4209ae2b995bad697bd	Reports of oral involvement have been few ranging from papillomatous growths of the tongue, gingiva, palate to @PHENOTYPICFEATURE$ such as @DISEASE$ and dysodontia.	false
+903b811f61f18f53646daa8ff35953839211ebbb	These results are discussed with reference to the cardiac and @PHENOTYPICFEATURE$ that occur in @DISEASE$-deficient animals.	false
+f97f2d36363ec68cb1087cf725ce6811e02f52e4	Copper-64 metabolism in two patients with non-Wilsonian @PHENOTYPICFEATURE$ and @DISEASE$ deficiency.	false
+638345ed04d261636c27c3224d39d7862a26c650	@DISEASE$ deficiency can result in anemia, neutropenia, @PHENOTYPICFEATURE$, and other clinical manifestations.	false
+489e467276cce34442e3c9c5785f5871f8a51e42	@DISEASE$ deficiency can present as a combination of hematological and @PHENOTYPICFEATURE$ and it may masquerade as a myelodysplastic syndrome.	false
+67a057e9ba98c99e658a8a972dbc0085a52c96de	D-penicillamine-induced @DISEASE$ deficiency in suckling mice: @PHENOTYPICFEATURE$ and brain mitochondrial enzyme activities.	false
+f3ea5a19ec329bc30e062ac261a803e32ef15fd1	Over the last couple of decades, dietary @DISEASE$ deficiency has been shown to cause a variety of metabolic changes, including @PHENOTYPICFEATURE$, hypertriglyceridemia, hypertension, and glucose intolerance.	false
+58e9ff6bed221e45bb65641366eab7be96a2ab41	At the age of 9?years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+fe730f5db7969112180508bf60ba07b4370444d4	Biological results were similar to previously described patients, including @PHENOTYPICFEATURE$, elevated alkaline phosphatases and defects in @DISEASE$ metabolism.	false
+48606164c72c87097506448103c6d85bb954b4d9	Osteochondrosis, @PHENOTYPICFEATURE$ and enzootic ataxia associated with @DISEASE$ deficiency in a farmed red deer (Cervus elaphus) herd.	false
+cc1853c63ea016f08eed71ed0323db05ae5164ab	Persistent hyperzincemia without an identifiable external source appears to be a primary metabolic defect, while @DISEASE$ deficiency is a secondary phenomenon, causing hematologic and @PHENOTYPICFEATURE$.	false
+2bcfa6e252bc5900517af01a9e7efb9207ebeb53	Functional integrin antagonism does not contribute significantly to efficacy; rather, this therapy recruits both an innate and adaptive immune response, @DISEASE$ in either arm result in reduced @PHENOTYPICFEATURE$ control.	false
+c5d24f23bdfafd688784f97d822825b38c26e379	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and @DISEASE$), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+4516022730ee674da52a590704b9991cc7a3b28f	A 54-year-old man who had received intravesical instillation of bacillus Calmette-Guerin(BCG) after transurethral resection for @DISEASE$ suffered from multiple arthritis, bilateral @PHENOTYPICFEATURE$, miction pain and high fever.	false
+07ab6121028057c224e704a8f2333f4b399d079f	There were 89 786 cases of @DISEASE$, 36 802 cases of brain cancer, 21 773 cases of hepatobiliary cancer, 37 812 cases of adult leukaemia and 3973 cases of childhood @PHENOTYPICFEATURE$.	false
+450b2f5c8768fc8440a2dfb69ebb4d701235a17c	Preoperative @PHENOTYPICFEATURE$ is associated with disease recurrence and progression in patients with non-muscle-invasive @DISEASE$.	false
+96b64829ccaa08a8ebb6794a1b64c668b9900f25	Ring finger protein 1 (Ring1) have recently been reported to be closely related to aggressive tumor features in multiple cancer types, including prostate cancer, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d44405fd66815d74b3f0f70c5a9e65d8dbd8224b	A 69-year-old male with @DISEASE$ developed @PHENOTYPICFEATURE$ and diplopia 4 days after the completion of a treatment regimen with intravesical BCG weekly for 6 weeks.	false
+6800de708dbe8573f3bce9adb28bef159f4f63f3	Four series of cases were identified: males aged 40-75 years, with first hospital admission for @PHENOTYPICFEATURE$, lung or @DISEASE$; and women aged 18-39 years, admitted for miscarriage.	false
+cebb70bf4a5b0397957ac24b45a14f3b22d77c28	Further investigation of patients with abnormal results revealed one case of @DISEASE$, one case of @PHENOTYPICFEATURE$ and one patient with polycythaemia.	false
+523d205715aae96fd775c7e6d1938cb8e92a9ebf	A causal relationship has been established between alkylating agents and @PHENOTYPICFEATURE$ and between cyclophosphamide and @DISEASE$.	false
+1ec48f34c489beb71d08ac92f6adb8c66b3a28da	In addition, @PHENOTYPICFEATURE$, lymphoma/multiple myeloma and @DISEASE$ were more frequent, the last-named especially in males.	false
+0658fb18ba84fc75fccd42111cea31326f3190f1	Several studies have reported an association between malignant melanoma and breast cancer, @DISEASE$, colorectal cancer, neuroectodermal tumours, non-Hodgkin's lymphoma, @PHENOTYPICFEATURE$ and renal cell carcinoma.	false
+d05c02eee55ef654f1a36c66285997aab2353f69	After 3 months of immunosuppressive treatment with cyclosporin because of a @DISEASE$, a 13-year-old female developed marked gingival hyperplasia, @PHENOTYPICFEATURE$ of the arms and papulo-vesicular skin lesions on the left leg.	false
+7fa3d07d6f858402d9f99bd3c5cee1b38e9ce6b9	The FG syndrome (@DISEASE$) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, @PHENOTYPICFEATURE$, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personality with behavior abnormalities, and disturbances of gastrointestinal function.	false
+4683c1aead5f62a497ff4c821636fcd7f8e45d75	We report four patients in a consanguineous family with @DISEASE$ (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and @PHENOTYPICFEATURE$ or brain atrophy without hiatus hernia.	false
+6cfc6624108c37302ac3abe887c0357dc8203d2a	We report four patients in a consanguineous family with focal segmental glomerulosclerosis (@DISEASE$), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and @PHENOTYPICFEATURE$ or brain atrophy without hiatus hernia.	false
+da96e136a7c19a10edcd494223800d8e8e1e1596	We report two brothers with @PHENOTYPICFEATURE$, cerebellar atrophy, and @DISEASE$.	false
+023160614309358e727925b192c8c41b7ca495ff	We reviewed the previous literature and extended earlier observations about an unusual association between the nephrotic syndrome due to @DISEASE$-like lesion, mental retardation, infantile spasms, and/or @PHENOTYPICFEATURE$ in children.	false
+c54e6e70ddd8ff924abb6f9b82e71ba855a3749d	Activating antibodies directed at the extracellular calcium-sensing receptor (CaSR) have been described in @DISEASE$ in the setting of isolated @PHENOTYPICFEATURE$ or autoimmune polyglandular syndrome type 1.	false
+3770680f96f2214b3753b0ecd1ca04f412464c96	Mutations in POLG are a major cause of mitochondrial disorders including hepatic insufficiency, @DISEASE$, progressive external ophthalmoplegia, @PHENOTYPICFEATURE$ and ataxia.	false
+d8ed1acae49ef3e5a5f82b77671db9f7e9d8e897	Proteinuria, hypoproteinemia, @PHENOTYPICFEATURE$, and reduction in body weight were significantly greater in nephritic SHR than in nephritic SHR treated by @DISEASE$ or nephritic WKYR, whereas BUN and serum creatinine were unchanged in all the nephritic rats.	false
+6080b0a83e1a6a42af7394abe076b3b5c2ac2410	Many mutations in POLG, the gene that encodes pol ?, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, @DISEASE$, myoclonic epilepsy @PHENOTYPICFEATURE$ sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO).	false
+22346cb9cb6bd41424742a9ce03c4b0e8c2858f6	The six leading disorders caused by POLG mutations are @DISEASE$, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; myoclonic epilepsy @PHENOTYPICFEATURE$ sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia.	false
+51e56f3931d5e8993096d852a1403c8019e4acbe	Both the patients also had @PHENOTYPICFEATURE$, and one patient had an ileal duplication and @DISEASE$.	false
+bd85be8996660507e48b26c1c58b81eca0ea201a	Efficacy variables included Response Ratio (RRatio), responder rate, and percentage change in frequency (PCH) for all partial seizures; @DISEASE$ and RRatio for individual types of partial seizures; and investigator and parent/guardian global assessments of @PHENOTYPICFEATURE$ frequency and patient well-being.	false
+78e6799a94acf6b84028e6c16fd754ca4a774009	Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase gene (RARS2) have been recently associated with @DISEASE$ type 6, which is characterized by early-onset @PHENOTYPICFEATURE$ with signs of oxidative phosphorylation defect.	false
+19d0b881e760cc8288253768f5686a3d185b2d1b	BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, @PHENOTYPICFEATURE$, craniofacial and skeletal abnormalities (including @DISEASE$), and autism spectrum disorder.	false
+f86a18402ceb4c1dec12b0878f4c227c4162232b	@DISEASE$ is characterized by delayed bony maturation, unique facial features, and @PHENOTYPICFEATURE$.	false
+e7019658d085ecf8f9fe40ec98a630ab436cf63a	@DISEASE$ (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and @PHENOTYPICFEATURE$.	false
+f553e93fc9881a68a8bc460ecbc0b3f033dea57a	@DISEASE$ (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with @PHENOTYPICFEATURE$ and skeletal and craniofacial abnormalities.	false
+81bc0b0ad2a5ef48bd005f322eb3ca14a74a4b2b	@DISEASE$ (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive @PHENOTYPICFEATURE$, and unique facial dysmorphology.	false
+c494a6b6330ffb0293fbac98908a3fb53d870c77	@DISEASE$ is a rare autosomal dominant short stature syndrome with retarded speech development, @PHENOTYPICFEATURE$ and dysmorphic facial features.	false
+f3b571a7a1a836479fdbb6a0c6bc2ccde917ae8a	Bardet-Biedl Syndrome (BBS) is an autosomal recessive @DISEASE$, and @PHENOTYPICFEATURE$ is among its defining characteristics.	false
+d1b1750c841ad9295674603be0bb2129df1631a5	A novel form of @DISEASE$ underlies hyperphagia and @PHENOTYPICFEATURE$ in Ankrd26 knockout mice.	false
+e756d6719d6c0fefd6410f7d90df75022691b39b	We generated a germline CETN2 knock-out (KO) mouse presenting with syndromic @DISEASE$ including dysosmia and @PHENOTYPICFEATURE$.	false
+281357dafc5256f71c6435023650fa57b0e6f5d8	Polydactyly and @PHENOTYPICFEATURE$ - the clinical manifestation of @DISEASE$: a boy with Bardet-Biedl syndrome.	false
+d60df954a2c0d3120621aa49c481b110caa8edf8	Extra @PHENOTYPICFEATURE$, including encephalocele, polydactyly and heart malformations, consistent with @DISEASE$ phenotypes, were frequently detected.	false
+0d730e140f720d9189e9b371f7de99b2b65382cc	ULK4 deficiency may be implicated in human @PHENOTYPICFEATURE$ and other @DISEASE$-related disorders.	false
+5928e184804423b4b8947b6e469d58dbc77decdf	In addition, @DISEASE$-associated developmental defects, such as small eyes, curved body axis, @PHENOTYPICFEATURE$, and shortened cilia in Kupffer's vesicle, were observed as well.	false
+80da935ab1eaf24c6647314ae87100ba492a9b23	Bardet-Biedl syndrome (BBS) is an autosomal recessive @DISEASE$, presenting with early @PHENOTYPICFEATURE$ onset.	false
+8412d04ffc7262da32dad50fddb838c2b209eabf	@DISEASE$ disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and @PHENOTYPICFEATURE$.	false
+ad66939bc028dfcbf0c28e4a901eb8f8ce0aeb8f	Genetic causes of @PHENOTYPICFEATURE$ include the @DISEASE$ Alstr?m syndrome and Bardet-Biedl syndrome.	false
+064b064e481185de2db6d3378c432cb8dcd79aff	@DISEASE$ @PHENOTYPICFEATURE$ cells grew robustly in every dog injected.	false
+09494604935c218a0c8500ab6892977088b10b6d	@DISEASE$ tumors were visualized on transrectal ultrasound in all 10 subjects within 2 weeks of @PHENOTYPICFEATURE$ injection.	false
+d89f5bdf2ad541ef0d7737f4a1783a09673a7658	@DISEASE$ @PHENOTYPICFEATURE$ were visualized on transrectal ultrasound in all 10 subjects within 2 weeks of tumor injection.	false
+8d344d3f6d638b1926379c87819cb8298f6c92c9	@DISEASE$ (EF) is a rare disease characterized by scleroderma-like skin, inflammation of deep muscle fascia, @PHENOTYPICFEATURE$, peripheral eosinophilia, and elevated erythrocyte sedimentation rate.	false
+d14a667eab42d4f1b14854c1d9a6e03728a71fd3	@DISEASE$ is a syndrome characterized by exertion related scleroderma-like skin changes, peripheral eosinophilia, @PHENOTYPICFEATURE$ and diffuse faciitis.	false
+6cd8dd4539ef8359cc7fe910345537cb308d3968	Aggressive desmoid fibromatosis in @DISEASE$: Expanding the @PHENOTYPICFEATURE$ spectrum.	false
+97f9c47cafba4d9d99124937e4b1f1220e8c13b0	Daily oral administration of CHIR-258 at doses that inhibited FGFR3 signaling in @DISEASE$-11-luc tumors in vivo resulted in a significant inhibition of KMS-11-luc @PHENOTYPICFEATURE$ growth, which translated into a significant improvement in animal survival.	false
+73c460b49ad075e4da0c017eb7feb19a956a6be8	Daily oral administration of CHIR-258 at doses that inhibited FGFR3 signaling in @DISEASE$-11-luc @PHENOTYPICFEATURE$ in vivo resulted in a significant inhibition of KMS-11-luc tumor growth, which translated into a significant improvement in animal survival.	false
+437367d1f8212ef6ba9d565685f7a5dabac9e454	Daily oral administration of CHIR-258 at doses that inhibited FGFR3 signaling in KMS-11-luc @PHENOTYPICFEATURE$ in vivo resulted in a significant inhibition of @DISEASE$-11-luc tumor growth, which translated into a significant improvement in animal survival.	false
+ca4dfe9d3183e9b0bc19f1e78a3d25f208a01d15	Daily oral administration of CHIR-258 at doses that inhibited FGFR3 signaling in KMS-11-luc tumors in vivo resulted in a significant inhibition of @DISEASE$-11-luc @PHENOTYPICFEATURE$ growth, which translated into a significant improvement in animal survival.	false
+b73d655dec934566e846e560a5368a20f781bed4	We report a case of a 12-year-old girl with @DISEASE$ who developed a @PHENOTYPICFEATURE$ on the right side of her neck.	false
+0af9b71818fdc09d7c9d5b1ef096d7a99fb166c7	Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic @PHENOTYPICFEATURE$: a variant of @DISEASE$ or a new syndrome?	false
+16aacbdbe75f66de5f8351d1399c29374d5f319f	None of the patients had the large ecchymotic and inflammatory @PHENOTYPICFEATURE$ seen in @DISEASE$.	false
+5e8dac89dd41217011450998a5d19899f12feb98	It also showed antitumor activity towards multiple myeloma @DISEASE$34 @PHENOTYPICFEATURE$ xenografts in lcr/scid mice in vivo.	false
+5a92eae87bfc62750866ca7e33d2d127c257f005	The literature suggests a specific histological pattern of vascular @PHENOTYPICFEATURE$ responsible for @DISEASE$, excluding capillary haemangioma [1].	false
+6bd049a38694fa046ff15a7091007df930b638bd	Nonetheless, a number of @PHENOTYPICFEATURE$ have been reported in patients with @DISEASE$.	false
+6385523523f63a9bfc6b0ece6b30e9b8e56eed93	We conclude that increased platelet production in this model of @DISEASE$ resulted in an antivascular @PHENOTYPICFEATURE$ effect via platelet trapping.	false
+f9deab380b7282ac3227ee02b0e2517c5eadf70e	So far, few @PHENOTYPICFEATURE$ have been reported in patients with @DISEASE$.	false
+85431b12f50529d411d88d649c8009d7eb3b8d5a	Uncommon findings encountered included @DISEASE$, patent ductus arteriosus and @PHENOTYPICFEATURE$.	false
+9f5e93b815476e16a149f195109cd2265f8eea50	The abnormalities identified by prenatal ultrasound included @PHENOTYPICFEATURE$, heart defects, @DISEASE$, holoprosencephaly, and myelomeningocele.	false
+241d49e415fc7e1c7bb711f82df437dcd53f7a3d	The abnormalities identified by prenatal ultrasound included renal malformations, @PHENOTYPICFEATURE$, @DISEASE$, holoprosencephaly, and myelomeningocele.	false
+ca4107b6c087ff382443577f58cb7685f24f4ab5	Additional malformations included @DISEASE$, hypertelorism, aplasia of the gall bladder, heart defects and @PHENOTYPICFEATURE$.	false
+ca49d597781338d9d7b0347596b23d6fb5b83d1b	Additional malformations included @DISEASE$, hypertelorism, aplasia of the gall bladder, @PHENOTYPICFEATURE$ and kidney malformations.	false
+bdabd8669c945bb0d299f254c5fd2f1ac21e1503	Additional malformations included @DISEASE$, @PHENOTYPICFEATURE$, aplasia of the gall bladder, heart defects and kidney malformations.	false
+122b71fd394c1c9bbd59c72fc6250ccd8dd88066	This mutation results in calcified heart valves, @PHENOTYPICFEATURE$, alteration of oculomotricity and @DISEASE$.	false
+a4ff064a2c86c31705b1eb2e5179e237b622ef6c	Hydranencephaly is one of the causes of @PHENOTYPICFEATURE$ enlargement in children often confused with @DISEASE$.	false
+bc0aa483929bbb941f4ec42c0b1c906ea27e2d24	The newborn showed @DISEASE$, occipital encephalocele, @PHENOTYPICFEATURE$, interventricular defect, hallucal duplication.	false
+34f6fd6fd9ad4f535c4c961074b7c11ca14d7829	The fetus had @PHENOTYPICFEATURE$, @DISEASE$, exophthalmos, and micrognathia.	false
+22189a40aa787bb85ebb486d2c718d2158527d71	The fetus had growth retardation, @DISEASE$, exophthalmos, and @PHENOTYPICFEATURE$.	false
+f80ada12e07746983f69ee41cf75188ce3634f7a	Malformations, such as @PHENOTYPICFEATURE$, @DISEASE$, short tail, oligodactyly, syndactyly, cleft lip, micromelia, and heart defects occurred, but no skeletal malformations were noted.	false
+256e228ef3debe86f89db32d21ab5c51af908920	Malformations, such as micrognathia, @DISEASE$, short tail, oligodactyly, syndactyly, cleft lip, micromelia, and @PHENOTYPICFEATURE$ occurred, but no skeletal malformations were noted.	false
+b68c8d8e6c538ada134a64cfd3c77f25e13c186c	Malformations, such as micrognathia, @DISEASE$, short tail, oligodactyly, syndactyly, cleft lip, @PHENOTYPICFEATURE$, and heart defects occurred, but no skeletal malformations were noted.	false
+86a7a0e644f43c86dd13c12a5ddab62dec95d96c	Of 114 children with oesophageal atresia, 6 had cleft palate and other craniofacial anomalies present included cleft lip, micrognathia, @PHENOTYPICFEATURE$, microcephaly, and @DISEASE$.	false
+086ef0aa4fe76767ef20c2d748e19fdfc5fba410	Of 114 children with oesophageal atresia, 6 had cleft palate and other craniofacial anomalies present included cleft lip, @PHENOTYPICFEATURE$, hypertelorism, microcephaly, and @DISEASE$.	false
+c2d928025081c375ba68caff653019c6c2adc5f6	Underlying co-morbidities and secondary conditions included @DISEASE$, Chiari II malformation, tethered cord, scoliosis, and @PHENOTYPICFEATURE$.	false
+93154e3a717903c5665327795d4bbc033c6d2fb0	Therefore, we investigated whether vulnerability to BD, dimensionally assessed by the hypomanic personality scale (@DISEASE$), is associated with @PHENOTYPICFEATURE$ in healthy subjects.	false
+19082772c600a41ea7b3d8d6011bea86830d0531	WCST random errors (RE), @PHENOTYPICFEATURE$ scores and HAMA scores correlated with this connectivity measurement in both HP and @DISEASE$ groups.	false
+11cf99f5742e1ea9625f573cae3ac2a59e8d9c74	A new formulation of hydrogen peroxide stabilised (@DISEASE$) in monoglycerides cream (Crystacide 1%), indicated in the topical treatment of superficial @PHENOTYPICFEATURE$, is now available as an alternative treatment.	false
+43ecf7acdfdf2bded310390832eb02525254940f	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+a6bcaf03b70c91740cbfc8fc182f682eabb20f9a	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+6a597c2546589d4f69ccc6909deecd10452a3117	Growth and development failure, hypotonia, seizures and @PHENOTYPICFEATURE$ are the common characteristics of patients with @DISEASE$.	false
+09e48027633232374a8e52137cf2d16e06ebed8c	The patient was treated with prednisolone and leukocytapheresis and the @PHENOTYPICFEATURE$ nodules on the skin, as well as the abdominal symptoms and endoscopic findings of @DISEASE$, immediately improved.	false
+242e477dbeee5d4c729c6c4c6bef70b17ba51f2c	We present a case of @PHENOTYPICFEATURE$ in a young man on infliximab therapy for @DISEASE$.	false
+e5d6106d5323e97a5d6b43c580d90dea50a9ed25	We present a case of @PHENOTYPICFEATURE$ with Mycobacterium chelonae in a 60-year-old Caucasian woman with @DISEASE$ who had been treated with corticosteroids and azathioprine.	false
+076081649f3a4cb923885098778783dc00599b95	@PHENOTYPICFEATURE$ is an unusual event in @DISEASE$ in childhood, and an autoimmune pathogenesis is suspected.	false
+2dc550275fae7f422c86446261761b727dbd0b68	A 45-year-old woman on steroids for an @DISEASE$ (UC) exacerbation presented with sore throat and multiple @PHENOTYPICFEATURE$ on her left forearm and right foot.	false
+04dfc742ec2c5870b7cf7b38a4850b310e2aeda2	We report two women aged 57 and 68 years who presented with a lower limb @PHENOTYPICFEATURE$ 8 and 20 years after a diagnosis of CIBD (Crohn's disease and @DISEASE$), respectively.	false
+59d114339fc61e89f34d712a03c8e24ade4d1686	We describe a case of a 47-year old Japanese man with steroid-dependent, refractory @DISEASE$ complicated by non-tuberculous mycobacterial @PHENOTYPICFEATURE$.	false
+b0abd38d33eb53bec7f8395bd4b872029f77deae	Omalizumab therapy in a patient with cronic spontaneous @PHENOTYPICFEATURE$, @DISEASE$, hypereosinophilia and prurigo Besnier: a case report.	false
+ff5a7e62731177d7c2f7a7ef9be233c00bcf4a19	@PHENOTYPICFEATURE$ with perineuritis may be an immunologically mediated extraintestinal manifestation of @DISEASE$.	false
+0536f7312cabd56261ca32864a5e2d8afb3c742e	@PHENOTYPICFEATURE$ as first sign of @DISEASE$ in a child.	false
+a6aef8be8ef6507c9488c904444681bcbcc8b965	We report a 31-year-old woman with sickle @DISEASE$ zero who presented at 21 weeks gestational age with multiple bilateral @PHENOTYPICFEATURE$ and no hemodynamic instability.	false
+1378345b80903bd96118e56e4aaf9c2968fd9293	@PHENOTYPICFEATURE$ of the spleen (splenoma) with calcifications in a child with @DISEASE$: A case report.	false
+131d7467867da2e338ea3d8a1e30088f291136a3	These studies resulted in various levels of correction of the disease phenoypes in small and large animal models of hemophilia B (F.IX deficiency), @PHENOTYPICFEATURE$, obesity, age-related atrophy, and @DISEASE$ (8,12,13,15,17,18,20-25).	false
+d231636c7b1c1303beed68b3b2e4d63c6ead9c1f	The @DISEASE$ cardiomyopathy is mainly characterized by 2 distinct phenotypes, a dilated phenotype, with left @PHENOTYPICFEATURE$ and impaired contractility and a restrictive phenotype, with restrictive left ventricular filling, pulmonary hypertension, and right heart failure.	false
+33f14ea1f7f97280b5e718ad8fd1bc5bc0391d09	We report a case of a 15-year-old girl with iron-deficiency anemia and @DISEASE$, who had a large (10 ? 8 ? 7 cm) splenic lesion with calcifications, incidentally found during follow-up for splenomegaly and histologically characterized as @PHENOTYPICFEATURE$ with calcified areas.	false
+4053e9cb96c0e1095e05d89dcfc0716f1fac97fd	This study was undertaken to evaluate the number of the immunoglobulin producing cells in the lamina propria of the small intestine by immunocytochemical techniques, using peroxidase-antiperoxidase (PAP) complex in normacid patients with @DISEASE$. 25 patients were studied including 13 patients with bacterial @PHENOTYPICFEATURE$, where the bacterial concentration was higher than 10(4) colony forming units/ml, and 12 subjects with normal bacterial concentration, served as control.	false
+549721dec25591751fb8e4cd0d775c5f2ef3abdb	We studied a patient with partial and secondarily @PHENOTYPICFEATURE$ and a hemiparesis due to a malformation of cortical development (@DISEASE$) in the right hemisphere by using EEG-triggered functional MRI (fMRI), diffusion tensor imaging (DTI), and chemical shift imaging (CSI).	false
+4707f01b80da7876644efb2e7add29d43ed8185f	An additional phenotype of @PHENOTYPICFEATURE$, with anterior pituitary hypoplasia and @DISEASE$, has been reported in patients carrying SOX2 alterations.	false
+1fda63353d5c9d42eb2de551801e24055c202afb	Unusual premature ovarian failure with @DISEASE$ @PHENOTYPICFEATURE$ and 46, XX, 13ph+.	false
+3d4368330c80d33fb37b5a897c5936e9bf890da5	The biochemical tests showed hypotonic urine, mild @PHENOTYPICFEATURE$, @DISEASE$, central hypothyroidism.	false
+af4854de3e4415835d3dedc6a2c2033b2b8ccf1e	One patient had partial @PHENOTYPICFEATURE$ (GH deficiency and @DISEASE$) and none of the controls showed any hormonal dysfunction.	false
+9c1328ff89e5fc9aba18fa7bf4e5c44f6c33a93b	Endocrinological investigation at presentation revealed only mild @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b15b1c297cdbb5e06f1488e41e8de6386ecadc5a	The hyperprolactinemia, @DISEASE$, @PHENOTYPICFEATURE$ and hypokalemia subsided with the administration of bromocriptine 5 mg/day.	false
+202b9a17e4e544aa30a81fe2075feebeef715e88	Gigantism developed and @PHENOTYPICFEATURE$, @DISEASE$, and hyperparathyroidism were diagnosed throughout the adult period.	false
+1f2581bc90eb091652adb82ed75f7a55042f80a4	She had @DISEASE$, @PHENOTYPICFEATURE$ and growth hormone deficiency.	false
+eb423b711d4ded54f5a20794eff3a385f4407ac4	A case of primary hypogonadism obscured by @PHENOTYPICFEATURE$ @DISEASE$.	false
+7dbdd8f6c210f4f15e642b9c7136bb84d11cf3ba	Endocrine and radiologic evaluations revealed a cystic tumor in the sella turcica causing partial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1a6122999a42118f4d50f5525ce1e12964f2560d	The gamma-GT/ASAT (aspartate aminotransferase) and gamma-GT/ALAT (alanine aminotransferase) ratios were examined in 6 children with neonatal hepatitis (NH), 14 children with extrahepatic @PHENOTYPICFEATURE$ (EHBA), and 8 children with intrahepatic cholestasis (IHC) (of which 3 with the @DISEASE$).	false
+89fa6a3de40dadea0deca005fa92fb810a843c05	This, in turn, might cause @PHENOTYPICFEATURE$ via reduced @DISEASE$ insulin uptake, followed by peripheral hyperinsulinemia, insulin resistance and, perhaps, diabetes mellitus and hypertension.	false
+f492d8ea3f435d8853ddf84767d0aa78d3f6dcc0	This, in turn, might cause hyperinsulinemia via reduced @DISEASE$ insulin uptake, followed by peripheral @PHENOTYPICFEATURE$, insulin resistance and, perhaps, diabetes mellitus and hypertension.	false
+6fc7452beb9ee41284dfbcf09a4b7a701e5ebef0	2-Deoxy-2-[(18)F]fluoro-D-galactose has been developed to assess liver function and diagnose @DISEASE$ @PHENOTYPICFEATURE$.	false
+26665a74d38c34113c19d7d6ac142e65ada7057d	Ten of the 13 surviving patients with @DISEASE$ insufficiency and @PHENOTYPICFEATURE$ at OLT showed significant neurological improvement.	false
+408e8c9d7e723ca1a934aa24eea234738fe55717	Fever, organomegaly, @PHENOTYPICFEATURE$, @DISEASE$ abnormalities, and cutaneous signs were very common.	false
+a0dc704b8757d27d6b3ca322ea8b865d6bb4afec	Jeune syndrome, a rare autosomal recessive disorder characterized by skeletal @PHENOTYPICFEATURE$ and extremities, is associated with respiratory distress in infancy, @DISEASE$ fibrosis in some instances, and renal failure that may develop later.	false
+0d85f5d20941fe22e7f5da31dd53b9f7488fe04b	Endocardial fibroelastosis, medullar and @PHENOTYPICFEATURE$, and @DISEASE$ hemosiderosis are frequently present.	false
+a3d739aa56879f3f2bb70831952b38a436d33987	Juvenile nephronophthisis associated with @PHENOTYPICFEATURE$ and @DISEASE$ fibrosis.	false
+de9b9d4e3b4455b62e8d21933c96c5ccee3b6e7a	@DISEASE$ clear cell carcinoma associated with hypoglycemia and @PHENOTYPICFEATURE$.	false
+0c5b590928583f2f17a50800445ad5fb1738224c	Adverse events included fatigue as well as cardiovascular, gastrointestinal and @PHENOTYPICFEATURE$, hematologic and @DISEASE$ laboratory abnormalities.	false
+3da8d51eea96ae4a109072a256153663c5864a6e	Previously described @PHENOTYPICFEATURE$ and @DISEASE$ fibrosis were not seen in any of our patients.	false
+59d705196a1be44c73a5f0021f889051cf284312	Bone marrow failure of variable severity due to @DISEASE$, historically characterised by associated physical anomalies and early @PHENOTYPICFEATURE$, may be present in otherwise phenotypically normal adults, and can masquerade as acquired aplastic anaemia.	false
+3175de0beb300b9cc0ed9039eca8b66fee2e2ada	@DISEASE$ is a complex of morphologic abnormalities of unknown cause and includes posterior fossa @PHENOTYPICFEATURE$ and neck infantile hemangiomas; arterial, cardiac, and eye anomalies; and sternal or abdominal wall defects.	false
+5ec8d14d2bbaa1ef4adb95c4c1c13fadaac88be7	Functional concerns included ulceration (29.5%), periocular location with potential for visual interference (28.6%), airway interference (4.8%), @DISEASE$ (3.8%), auditory interference (0.95%) and visceral location with @PHENOTYPICFEATURE$ (0.95%).	false
+a86a32aeaf97d61d88baa27cd0b1b91611dac41b	The diagnoses of @DISEASE$, edematous systemic @PHENOTYPICFEATURE$ and a fortuitous association may be also discussed.	false
+9548d4a453c03919e4b16930dcaf79e41f35f8c7	Recommendations for use of IVIG were made for 14 conditions, including acute disseminated encephalomyelitis, chronic inflammatory demyelinating polyneuropathy, dermatomyositis, diabetic neuropathy, Guillain-Barr? syndrome, Lambert-Eaton myasthenic syndrome, multifocal motor neuropathy, multiple sclerosis, myasthenia gravis, opsoclonus-myoclonus, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, polymyositis, Rasmussen's encephalitis, and stiff person syndrome; IVIG was not recommended for 8 conditions including adrenoleukodystrophy, amyotropic lateral sclerosis, @PHENOTYPICFEATURE$, critical illness polyneuropathy, inclusion body, myositis, intractable childhood epilepsy, paraproteinemic neuropathy (IgM variant), and @DISEASE$.	false
+2a4b990e641083d837ceb8474dbd77368f61adf7	A case of @DISEASE$ in a 43-year-old male with polyneuropathy, osteolytic lesion of the basin due to solitary IgA-lambda plasmacytoma, cutaneous @PHENOTYPICFEATURE$-like changes, diffuse lymphadenopathy and hepatosplenomegaly is described.	false
+b8c9fb435dac090272cfec84693beb6eac61bbed	Calciphylaxis in a patient with @DISEASE$ without renal failure and/or @PHENOTYPICFEATURE$.	false
+a02f9d4384b37c96fb4693f872c88cd7bd320356	To examine the relationship between microvascular characteristics (central retinal artery equivalent [CRAE], central retinal vein equivalent [CRVE], arteriole-to-venule ratio [AVR], focal retinal arteriolar narrowing, arteriovenous [A/V] nicking, and retinopathy) associated with @PHENOTYPICFEATURE$ and ocular disease (age-related maculopathy [ARM], three types of cataract, and @DISEASE$).	false
+09f2fa9e76aa2a8815e06c0bce6f7a98c5f95616	The association between ODHs and various patient-related variables (diabetes, systemic hypertension, heart disease, @PHENOTYPICFEATURE$, migraine, hypothyroidism, use of platelet antiaggregant agents) and eye-related variables (mean and range of intraocular pressure, refractive error, and severity of disease) was investigated using multivariate time-to-event analyses in patients with @DISEASE$.	false
+e7b03d7fe52531a8401e38d6fe388ede5bd2cae2	A case of ocular @PHENOTYPICFEATURE$ and chronic @DISEASE$: merely coincidental?	false
+49da88c9f8e3c869d3ef40412d69c5d33e734b63	35 patients (65 eyes) were examined; 10 patients (18 eyes) were without glaucoma or ophthalmic @PHENOTYPICFEATURE$, and 25 patients (47 eyes) had an @DISEASE$ of stages I-III.	false
+ad411df816ab67964fca7ac12cc49b351ad4aba4	A 62-year-old woman, who had undergone steroid therapy for refractory @DISEASE$ and had a history of diffuse large B cell lymphoma, developed a deep @PHENOTYPICFEATURE$ complicated with lymphangitis.	false
+fc886ef8aba2a3fa8b953aaa9b2b39805ea418cd	A 21-year-old woman developed @DISEASE$ (ITP), subclinical Graves disease and @PHENOTYPICFEATURE$ without typical chronic graft-versus-host disease (GVHD) 5 years following an allogeneic bone marrow transplantation from an HLA-identical sibling.	false
+5f601e9d1b76e93b6146311e4ed6471c1e39412c	Associated autoimmune diseases include rheumatoid arthritis, pernicious anemia, @DISEASE$, and systemic lupus @PHENOTYPICFEATURE$.	false
+ff6e438e192eadd8ef039e48c7600d802c7a0604	Concurrent association of @DISEASE$ (ITP) and @PHENOTYPICFEATURE$ is a rare condition.	false
+e3b7d4592a48111aa8520742c5e5942bdd0f560b	Other medical conditions affecting the children are summarized as follows: autonomic dysfunction in 10 patients (43%), recurrent hypoglycemia in 9 (39%), asthma in 9 (39%), cholecystitis in 7 (30%), low serum carnitine level in 6 (26%), urinary dysfunction in 6 (26%), pancreatitis in 5 (22%), behavioral problems in 5 (22%), myopathy in 2 (9%), @DISEASE$ in 2 (8%), velopharyngeal insufficiency in 1 (4%), oculocutaneous @PHENOTYPICFEATURE$ in 1 (4%), Pierre-Robin syndrome in 1 (4%), and protein C deficiency in 1 (4%).	false
+4af6f4eb3939d986999010e823ed90888bc1e4e9	Four groups of patients were studied: AIDS with opportunistic infections, AIDS with Kaposi's sarcoma, AIDS/ARC patients with @PHENOTYPICFEATURE$ and a patient with AIDS-related @DISEASE$.	false
+ac4175d549fdf2c2ccbb1a2350a4b3094e9b9e65	@PHENOTYPICFEATURE$ is an uncommon complication of @DISEASE$ (ITP).	false
+26eb1ba4d9f7a260a923d1fd56c60f6c01f41bdb	The outcome studied was as follows: 28% died of which 4% were @PHENOTYPICFEATURE$ positive, 12% were diabetics with severe rhinorbital involvement, 2% had @DISEASE$ (ITP), 6% had advanced cancer and 4% had no predisposing illness.	false
+8161ffcaba461fda7edb86412daaf1c26636a8c5	ROS and @DISEASE$ are also associated with @PHENOTYPICFEATURE$ promotion and progression.	false
+d873cfccef5e2b7bb4c8b0d6e54e93c358714577	These include renal artery aneurysm (RAA), fibromuscular dysplasia (FMD), @DISEASE$ (RNS), renal arteriovenous malformation, renal @PHENOTYPICFEATURE$, and renal artery or vein thrombosis.	false
+736973780ef860ae63d2817607eade27e5160126	We report a 34-year-old patient with intractable, childhood-onset, genetic generalized epilepsy (GGE) with tonic, atonic, @PHENOTYPICFEATURE$ and absence seizures treated with @DISEASE$.	false
+7fa79f7b462595021e2e8b504643a8e66074c349	Incidence of abdominal @PHENOTYPICFEATURE$ in syndromic and idiopathic hemihypertrophy/@DISEASE$.	false
+f175815635c6bf514ad850da4f548afae9cfb3bf	Epigenotype, phenotype, and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+5899389be76b2af18835f962934f8c6230cd706d	Constitutional UPD for chromosome 11p15 in individuals with @DISEASE$ is associated with high @PHENOTYPICFEATURE$ risk and occurs following assisted reproductive technologies.	false
+12dedcdd32b4f0165be1dd810147e68cf6240df3	Diagnostic criteria and @PHENOTYPICFEATURE$ screening for individuals with @DISEASE$.	false
+9c811c649bdf3f37f034aeaf37cde52db0f2d6ba	The study presented here retrospectively evaluated the clinical data and the risk for @PHENOTYPICFEATURE$ development in the cases with @DISEASE$.	false
+f64281852ccec13ff222372ae2a89bdca410dc2e	We critically review the evidence for @PHENOTYPICFEATURE$ surveillance in Beckwith-Wiedemann syndrome and @DISEASE$ and suggest local practice guidelines.	false
+4fa24265bf5adbbfaf54d69cc7f8983eb867d702	Various @PHENOTYPICFEATURE$ are also associated with @DISEASE$.	false
+2eea91f136fcf12deaf3e9a833ff4ce16d6b4645	For this reason, molecular diagnostics are not helpful in identifying the subset of @DISEASE$ patients with @PHENOTYPICFEATURE$ risk and all isolated hemihyperplasia patients should undergo tumor screening.	false
+5b6573891c75115519213995eeacd3da0000c1f4	For this reason, molecular diagnostics are not helpful in identifying the subset of isolated hemihyperplasia patients with tumor risk and all @DISEASE$ patients should undergo @PHENOTYPICFEATURE$ screening.	false
+1602a1693fc41dfb9ab91d786f1340fa00e0ee98	For this reason, molecular diagnostics are not helpful in identifying the subset of @DISEASE$ patients with tumor risk and all isolated hemihyperplasia patients should undergo @PHENOTYPICFEATURE$ screening.	false
+821b1df77c27764e1e68754567d2c823de5368ec	For this reason, molecular diagnostics are not helpful in identifying the subset of isolated hemihyperplasia patients with @PHENOTYPICFEATURE$ risk and all @DISEASE$ patients should undergo tumor screening.	false
+72697a2eabace0195a99d9dc8e726e71b08784dd	To investigate whether epigenotyping of patients with @DISEASE$ (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of @PHENOTYPICFEATURE$ risk and tumor type of individual patients.	false
+2b46c68d2bb64521865ddbb920a32bc3ec847776	To investigate whether epigenotyping of patients with @DISEASE$ (IH) can, analogous to genetic screening of patients with Beckwith-Wiedemann syndrome, be used for the prediction of tumor risk and @PHENOTYPICFEATURE$ type of individual patients.	false
+ab7d3ffd22edea9d2fbf7ca2e8fe2ec22336f731	We report here a female patient with severe manifestations of @DISEASE$ including @PHENOTYPICFEATURE$ and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity.	false
+557932dd647ea7ae60bd499ad9bdb77afcbca5d2	@DISEASE$ (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+eb4c21625b82ca49074facdf2a9af49609c26026	@DISEASE$ tumor regrowth, involving the cavernous sinus, caused neurapraxia of cranial nerves III, IV, or VI, with associated @PHENOTYPICFEATURE$ or ophthalmoplegia.	false
+a2f1fe021effd04423233dd7ad16fd3c76ca3dbf	Multiple extramacular drusen was associated with @PHENOTYPICFEATURE$ abnormalities in 88% of autopsy cases, in contrast to 2% of cases in a control population without @DISEASE$ or RDPE.	false
+dd489440d49948dc6c00454cb08e8b21d0f1390e	Unclassified @PHENOTYPICFEATURE$, possibly spondyloepiphyseal dysplasia, possibly @DISEASE$, in father and daughter.	false
+97672bbcc7e63c95984831e200157ba5c51246ed	This mutation produced a severe @DISEASE$ phenotype with marked @PHENOTYPICFEATURE$, early onset osteoarthritis, and remarkable radiographic changes.	false
+6d8f894d19b4ba3658dc75a0e7936065b811477d	To obtain a better outcome, multiple factors such as comorbid @DISEASE$ diseases, @PHENOTYPICFEATURE$, and osteoporosis should be carefully considered.	false
+73e326003a663ec829c750a75177fa2e9dce1966	We identified 18 trials including assessment of QOL (4 Asthma, 4 Rhinitis, 2 Dermatitis, and single studies of Eczema, Cystic fibrosis, Otis @DISEASE$, Amblyopia, Diabetes, Obesity associated with a brain tumour, Idiopathic @PHENOTYPICFEATURE$, and Congenital agranulocytosis).	false
+6ba0217ffb08d53ef781a4c4aeb04ab273b262ba	We identified 18 trials including assessment of QOL (4 Asthma, 4 Rhinitis, 2 Dermatitis, and single studies of Eczema, Cystic fibrosis, Otis @DISEASE$, Amblyopia, Diabetes, Obesity associated with a brain tumour, Idiopathic short stature, and @PHENOTYPICFEATURE$).	false
+b27162e9ee45167c1a6aeae870ec1f696cf662a2	Pseudoachondroplasia (PSACH) and @DISEASE$ (MED) are dominantly inherited chondrodysplasias characterized by @PHENOTYPICFEATURE$ and early-onset osteoarthrosis.	false
+9e3a3dc245c2022c6e242c0dda5519349af06226	Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$) are dominantly inherited chondrodysplasias characterized by @PHENOTYPICFEATURE$ and early-onset osteoarthrosis.	false
+3397095a1bd866d9ded6bc2a7f2b4403a63b9e15	during panic attacks and were more likely to have @DISEASE$ disorders like chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, and Parkinson's disease.	false
+c38ee382d819e303407cff19e674e94752206d83	Evidence indicates that nonionic media have less propensity to cause @PHENOTYPICFEATURE$ and bradycardia than ionic @DISEASE$.	false
+82c19a1e6bd58d018535c1674baf45c9e6f3f06d	Congenital cataracts and other ocular @DISEASE$ opacities are a leading cause of preventable childhood @PHENOTYPICFEATURE$.	false
+5f32a33822f9a36a016545db1b6427cd230742ab	A large inbred Lebanese pedigree with congenital @DISEASE$, microcephaly, optic atrophy, @PHENOTYPICFEATURE$, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied.	false
+2dc892ae4acb93e8242df456a938204babd04106	A large inbred Lebanese pedigree with congenital @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied.	false
+134d8e8bdc5aece333bc317667a385ee956850a4	The clinical abnormalities are bilateral @PHENOTYPICFEATURE$, extrapyramidal signs, @DISEASE$, dysarthria and mild cognitive deficit.	false
+962e423341bb8fe10177e238c783a954e9735b7c	The p.N478D missense mutation in human mitochondrial (polyA) polymerase (mtPAP) has previously been implicated in a form of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+fe2d0a2f78240a5ef251b1592277f34617c2e869	, encoding mitochondrial (polyA) polymerase (MTPAP), was first reported in six individuals of Old Order Amish descent demonstrating an early-onset, progressive @DISEASE$ with @PHENOTYPICFEATURE$ and learning difficulties.	false
+b8fb18757f41f1afe4c0d36cc5adddaf11a79493	@PHENOTYPICFEATURE$ was present most frequently in @DISEASE$ (five of 22 patients) and myoclonic ataxia (two of eight patients), followed by Friedreich's ataxia (three of 26 patients).	false
+992ba04cbf56bd28986bdc00d8ea9831f066a760	We report a novel m-AAA-associated phenotype characterized by early-onset @PHENOTYPICFEATURE$ with @DISEASE$ and L-dopa-responsive parkinsonism.	false
+90e330f5cce7f64aec7a045487ac0aa61d527121	We report an early onset @DISEASE$-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, @PHENOTYPICFEATURE$, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy.	false
+da9758f7b67c0bed809a5a8a42b862b165c72170	Clinical abnormalities in decreasing order of frequency were bilateral @PHENOTYPICFEATURE$, extrapyramidal signs, @DISEASE$, dysarthria and cognitive deficit.	false
+b4f7e91db8b67de2502690e8609152163285fbb3	In nine patients with MS, seven with unilateral hearing loss and two with bilateral impairment, accompanying symptoms and signs included facial numbness, hemifacial paresis or spasms, ipsilateral limb ataxia, nystagmus, @PHENOTYPICFEATURE$, tinnitus, and @DISEASE$ gait.	false
+61604905e4548e3c3d19784a2cfe3afe38fd6a14	Intellectual deterioration, dysarthria, @DISEASE$, @PHENOTYPICFEATURE$ and an increase of lymphocytes in the cerebrospinal fluid, were the main clinical signs.	false
+5e2f7309e3b183f90c80664cded9485ce0cf6722	Diagnosis was made of renovascular hypertension with combination of unilateral @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+3caecb474f62790a2f64c23502d1380b6c66f0c3	A five-year-old girl presented with mental retardation (MR), microcephaly, @PHENOTYPICFEATURE$, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, @DISEASE$, nonobstructive ureteral stasis, pyelonephritis, and renal failure.	false
+5ccb70784f25a1eb432cceaa8494b20758973039	She also had unilateral @DISEASE$ and relative @PHENOTYPICFEATURE$, but at 2 years of age, she scored within the low normal range on neurodevelopmental examinations.	false
+717d35b77d1d277ae81d6f5701f9d23941e107c4	The fetus presented with typical @PHENOTYPICFEATURE$ features, unilateral cleft lip and palate, severe @DISEASE$, consistent with the 4p-(Wolf-Hirschhorn) syndrome.	false
+d0e461791d49bfe0d81c90f5114f40a4d65f2bc7	Renal vein renin ratios were determined in hypertensive patients, 19 with @PHENOTYPICFEATURE$, 7 with renal artery occlusion and 13 with unilateral @DISEASE$.	false
+696443009d5209ef7cda432be38726f72824e706	Cenani-Lenz syndactyly with @PHENOTYPICFEATURE$, hypothyroidism, and @DISEASE$: a case report.	false
+bd4c827c8cc2109dcbb4de1f4220381d70ada636	In addition, the patients exhibited mild-to-moderate intellectual disability and @PHENOTYPICFEATURE$ coupled with microbrachycephaly, scoliosis, and cerebellar and @DISEASE$.	false
+151414780a468b51df9e34954837b12148c40c7b	Here, we report a newborn with Potter sequence, bilateral @DISEASE$ and cystic dysplasia, multiple @PHENOTYPICFEATURE$, long large ears, frontal bossing, small lips, partial simple toe syndactyly, and cleft palate.	false
+7b9ae769a1c085778d56e1c595e03eae5d854a35	@PHENOTYPICFEATURE$ and nephrocalcinosis in a patient with @DISEASE$.	false
+4963f37b158c2d5f99a8c42888e68249d72d28ef	We describe a patient with @DISEASE$ who exhibited @PHENOTYPICFEATURE$ and nephrocalcinosis.	false
+f1c13d2ea201de6caa45ea3ac2eb7acb50509a98	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, @PHENOTYPICFEATURE$, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and ataxia.	false
+1fe08a2b03b95f12e3ef64e5f4ed5cfee6eed304	[@DISEASE$ hypothermia and @PHENOTYPICFEATURE$].	false
+a39da878c785b11620cf72093e998a8cbe63e5b6	@PHENOTYPICFEATURE$ and @DISEASE$ hypotension occurred in 0.07% and 0.24% of the patients.	false
+2af45b8c2071eb0ca3527a8cbeb4989252a2f8b5	Many risk factors have been reported, including @PHENOTYPICFEATURE$, hypocholesterolemia, high-dose glucocorticoid therapy, @DISEASE$ hypertension, and infections.	false
+5231c46fa5eff21b268f3fd3211cd3cda82e990f	Pregnancies with @PHENOTYPICFEATURE$ were more often complicated by threatened abortion, polyhydramnios, and @DISEASE$ hypertension.	false
+b18a70da06de65975e0ac3468bc01fcf6fb178fc	We also performed an ethylenediaminetetraacetic acid (EDTA) infusion to induce @DISEASE$ @PHENOTYPICFEATURE$.	false
+b4d93d9cdbfa940517348c44c4b1f58861f14d8b	This 24 hr ECG monitoring study included 226 patients with isolated @PHENOTYPICFEATURE$, @DISEASE$ hypertension and coronary heart disease.	false
+a14a893c67fcfd3b634e7d2e23c5e124c18badf5	The @DISEASE$ hypoxia suggests hypoventilation while the hypocapnia suggests @PHENOTYPICFEATURE$ of the lungs.	false
+09411042bb7ab5cf5cf7b7e465f5b8983240b643	@PHENOTYPICFEATURE$, masked hypertension, and @DISEASE$ stiffness in men.	false
+5a930047d2e1df13debf69f9edd0b6549ae013bc	@PHENOTYPICFEATURE$ is independently associated with @DISEASE$ stiffness in ischemic stroke patients.	false
+f2715ea8a66571859706e132d7bae7eb93b10dd8	@PHENOTYPICFEATURE$ and @DISEASE$ stiffness in female overactive bladder patients and antimuscarinics related effects.	false
+40380dc7fe094d95159f306645af3f93bd370e0b	SPG79 is characterized by spasticity, paraplegia, @DISEASE$, @PHENOTYPICFEATURE$, and other variable clinical features.	false
+46307e0e12b65c780bd9dcb96fac2b13bb59b4ef	@PHENOTYPICFEATURE$, epilepsy, and @DISEASE$ associated with metaphyseal dysplasia: a case report.	false
+1ad0a9f44f78b76929cb038163ed79deac72c024	[@PHENOTYPICFEATURE$, @DISEASE$, epilepsy, myoclonus and mitochondrial myopathy: a case report (author's transl)].	false
+1c4a8044ff7529dcb88b37672a5dec1c28f6f991	Neurologic examination disclosed right @DISEASE$, an absence of touch sensation, pain, and @PHENOTYPICFEATURE$ in all her extremities.	false
+c6ce470c921c4ac6e451d661a6190cab952d8019	Gait disturbance, limb spasticity, @PHENOTYPICFEATURE$, and @DISEASE$ are other common features associated with INAD.	false
+dde65a0074fea5773ad9c38894ff4730d9e4bd7b	MMND variant has the additional features of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a9013fe824b4771d6fb0b1ba431e6fc50dd32e83	He showed severe ID, spasticity, @DISEASE$, @PHENOTYPICFEATURE$, growth failure and progressive cerebellar atrophy.	false
+e8a739bb9ab961516bc679b712c8cfda74c8c35b	Skeletal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, hearing impairment, and mental retardation: nosology of dysosteosclerosis.	false
+0fff12cca4d06145124eb48d5b744db8dee3eafc	@PHENOTYPICFEATURE$, intracerebral calcifications, @DISEASE$, hearing impairment, and mental retardation: nosology of dysosteosclerosis.	false
+e904d1195e5e227bf44baff6485c981bc53cc063	Additional anomalies, including @PHENOTYPICFEATURE$, gray matter heterotopia, cerebellar hypoplasia, @DISEASE$, hippocampal under-rotation, and white matter lesions, may coexist.	false
+b649090f71721cd833342e699516cbd7b5766efc	Additional anomalies, including cleft palate, gray matter heterotopia, @PHENOTYPICFEATURE$, @DISEASE$, hippocampal under-rotation, and white matter lesions, may coexist.	false
+aa8fb3907c1534fdae7cc66776ec5d736316c241	Physical examination revealed bilateral @PHENOTYPICFEATURE$, and @DISEASE$.	false
+36b6bac21f9037385e17a5299c3f718c7dc6d638	Although other digital anomalies have previously been described with @DISEASE$, the absent digit, atypical @PHENOTYPICFEATURE$ and marked asymmetry in this child make this case a good illustration of the clinical heterogeneity that can be associated with this type of brachdactyly.	false
+04e7d51c2fa8810631845afd3b269e49a0939419	@DISEASE$, an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into @PHENOTYPICFEATURE$ type B1 (BDB1) and brachydactyly type B2 (BDB2).	false
+16801503acdd6e8ef76697bc9bd2eb7a7fd0ac6a	@DISEASE$, an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into brachydactyly type B1 (BDB1) and @PHENOTYPICFEATURE$ type B2 (BDB2).	false
+22ae4e415d664d592768ecd4c74f9d4d8c55fc2f	@DISEASE$, an uncommon chronic intra-cerebral arteriopathy asymmetrically affecting the proximal vasculature, is rarely associated with clinical features pertaining to @PHENOTYPICFEATURE$.	false
+ee1486c0c7e8b33b9b68ca66080006e2faade1d4	The aim of this study was to define the clinical characteristics of patients who developed @PHENOTYPICFEATURE$ in association with @DISEASE$ (MMD).	false
+d79baba69ea6fe2284c57cd6e1d5edef980963a8	Two cases were of multiple aneurysms, one was associated with @PHENOTYPICFEATURE$ intracerebral hematoma (putaminal hemorrhage), and the other with @DISEASE$.	false
+cd98f8331a9255d956080246f6999fa39f6b2b7a	From a clinical standpoint, cerebrovascular or pulmonary vascular investigations may be warranted in patients with pulmonary @PHENOTYPICFEATURE$ or @DISEASE$, respectively.	false
+607e37c6fcf23e41592121d39d0bdba846db0211	Among 446 patients (118 pediatric) with @DISEASE$ surgically treated by the senior author, 4 pediatric patients had presented with @PHENOTYPICFEATURE$.	false
+e72b33c92c039c49d1807add4d1603b7adb67b48	Patients with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+f6234eb8a814721b44b138c5a8080819624c8716	Ki-67 analysis indicated that @DISEASE$-deficient tumors have higher proliferation rates compared with Aip-proficient @PHENOTYPICFEATURE$, suggesting a more aggressive disease.	false
+f69dd6b95427b50687dea05b3d1b057417b9467a	Ki-67 analysis indicated that @DISEASE$-deficient @PHENOTYPICFEATURE$ have higher proliferation rates compared with Aip-proficient tumors, suggesting a more aggressive disease.	false
+6cd9094eacde7011275032e3af088e874d5b0d7f	Ki-67 analysis indicated that Aip-deficient @PHENOTYPICFEATURE$ have higher proliferation rates compared with @DISEASE$-proficient tumors, suggesting a more aggressive disease.	false
+fc8562d0b8bd3cf4d63f48eb83bcfa1a336d1d12	Ki-67 analysis indicated that Aip-deficient tumors have higher proliferation rates compared with @DISEASE$-proficient @PHENOTYPICFEATURE$, suggesting a more aggressive disease.	false
+0667e5a8a00289f79a81878ef421d45a98567514	Children with pancreatic mass and biliary obstruction are more likely to have @DISEASE$ than @PHENOTYPICFEATURE$.	false
+74f770eeeed34af8bb461eb3dcc1582353793150	Five @DISEASE$ patients had permanent quadriplegia and @PHENOTYPICFEATURE$ after severe attacks.	false
+c80ab3ee40d6d0160953c8e07f84a711e89cf39b	Although pituitary tumors occurring in association with @DISEASE$ mutations are predominantly somatotropinomas, other @PHENOTYPICFEATURE$ types are also seen.	false
+f35030900ccb5111fde97959c5f062ec35e5bafb	In all of 3 @DISEASE$ patients who developed accompanying PaC, the clinical remission of AIP was achieved with maintenance steroid therapy, when @PHENOTYPICFEATURE$ were discovered.	false
+29dfb7f85b3b4b1466c879f300b9d0d0558446a0	We illustrate the first described case of a patient with @DISEASE$ in association with leucocytoclastic and renal @PHENOTYPICFEATURE$.	false
+613f98356b1d26738498319ce20059a2777871b1	Although there can be multisystem involvement, rarely, the cholangitis associated with @DISEASE$ can present radiologically in a manner similar to that of Klatskin @PHENOTYPICFEATURE$.	false
+7b5402feeb6c525f7f8d97b652e5938e6d59513f	These findings in the @DISEASE$ patients were compared with those in 12 patients with chronic alcoholic @PHENOTYPICFEATURE$-forming pancreatitis (CAP).	false
+27e721a8fffbc36c7ee08af0b5adf5531b829916	However, progressive renal insufficiency aggravates porphyria attacks and increases the PBG/ALA ratio, which should be considered a warning sign for potentially life-threatening impairment in @DISEASE$ patients with signs of @PHENOTYPICFEATURE$.	false
+50835534ff09525b5aa20de1b07cc6c8bce138df	However, progressive @PHENOTYPICFEATURE$ aggravates porphyria attacks and increases the PBG/ALA ratio, which should be considered a warning sign for potentially life-threatening impairment in @DISEASE$ patients with signs of renal failure.	false
+35e2e5e4a7ab73105cc601fd8c41b68a283333fe	In all patients with @DISEASE$ mutation, macro- and invasive @PHENOTYPICFEATURE$ was detected and repetitive surgery or postoperative medical therapy was needed.	false
+84f9095c5b100582100e5d3f846328132d444ef4	She has @DISEASE$ and anemia, with suspected @PHENOTYPICFEATURE$.	false
+32b55634e2b3b857ca55c240508f0a02e8c1d3f3	Bilateral @PHENOTYPICFEATURE$ and cerebral infarction after spleen embolization in a trauma patient with @DISEASE$: A case report.	false
+7cb3692e379412c9e51a24bd52c7d10886ff858a	To estimate the incidence of @PHENOTYPICFEATURE$ in an adult idiopathic thrombocytopenic purpura (ITP) and in a comparable non-ITP population, stratified by age, gender and medication use in order to determine whether the risk of cataracts is greater in @DISEASE$ patients.	false
+4c2d42ddc433e0d8caf6bca8e269f167c0e1a471	To estimate the incidence of cataracts in an adult idiopathic thrombocytopenic purpura (ITP) and in a comparable non-ITP population, stratified by age, gender and medication use in order to determine whether the risk of @PHENOTYPICFEATURE$ is greater in @DISEASE$ patients.	false
+0c6566c04687763c94366532b9fa84ccca282bae	Limited utility of @DISEASE$ deficiency to predict early @PHENOTYPICFEATURE$ in HCV patients with advanced fibrosis receiving Telaprevir.	false
+70da0149e6c1afa84827d776d94afe216c5a9641	Risk of @PHENOTYPICFEATURE$ among @DISEASE$ patients in the UK general practice research database.	false
+e31babc94ad47c8d6db13dd31ad32c50fb1492fb	However, the TPO levels were slightly higher in myeloproliferative disorders (n = 12; 1.99 +/- 1.47 f mol/ml) and lower in acute myelogenous leukemia (n = 8; 2.27 +/- 1.25 f mol/ml), hypoplastic @PHENOTYPICFEATURE$ (n = 3; 2.76 +/- 2.23 f mol/ml), myelodysplastic syndrome (n = 2; 0.42 +/- 0.60 f mol/ml), liver cirrhosis (n = 2; 1.50 +/- 0.92 f mol/ml) and @DISEASE$ (n = 12; 2.08 +/- 1.41 f mol/ml), when compared to the regression line for the combined group with normal individuals and postchemotherapy group.	false
+90133b31ac8e6c374e1d4496b6c656b1e054fee6	We report five patients with history of MDS who manifested different spectrums of autoimmune phenomena including: pyoderma gangrenosum (PG), vasculitis, Coombs negative @PHENOTYPICFEATURE$, @DISEASE$, and chronic inflammatory demyelinating polyneuropathy (CIDP).	false
+f1366f85582ca69fc6d18ec0457753b5a533cd51	Seven drugs are used in the treatment of non-malignancies: baricitinib, rheumatoid arthritis; fostamatinib, chronic @DISEASE$; ruxolitinib, myelofibrosis and polycythemia vera; nintedanib, idiopathic pulmonary fibrosis; sirolimus, renal graft vs. host disease; netarsudil, @PHENOTYPICFEATURE$; tofacitinib, rheumatoid arthritis, Crohn disease, and ulcerative colitis.	false
+e5847969a583c0b7d77f761965074b074bf76f9c	[A case of neurogenic proximal @PHENOTYPICFEATURE$ associated with Ig A kappa type @DISEASE$ (author's transl)].	false
+187e9cb3c749aa3ccdae5ebf0d63e4f41e182d9b	Serum lipoprotein-paraprotein complexes have been demonstrated in at least 20 other cases of cutaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+126d9c753c47a5e7c49d9b83290ababf081df2b9	When LDL form a complex with an IgA from a @DISEASE$ serum with mixed hyperlipidemia and @PHENOTYPICFEATURE$, they no longer function as a regulator, and the result is excess production of free intracellular cholesterol.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+09b63e78d0d2714dde39a11f3bc106266de464ce	Resurgence of thalidomide began as an immunomodulator when it was shown to be effective in the management of @DISEASE$ and many conditions like @PHENOTYPICFEATURE$ leprosum, graft versus host disease, recurrent aphthous ulcers etc.	false
+12bb2d545a0f9118365c325255e4d38e278148e6	[Condensing @DISEASE$ with polyradiculoneuritis, hyperpigmentation and @PHENOTYPICFEATURE$].	false
+2015e793a7048f9d34bde460a001e3836aedbaa2	In this article, we describe an elderly woman with @DISEASE$ who had unusual manifestations of cutaneous @PHENOTYPICFEATURE$, temporal arteritis, and retinal vasculitis.	false
+1c035cb000b7c1b0b06164df2a61e48096199133	This report describes rare oral manifestations of @DISEASE$ like oral @PHENOTYPICFEATURE$ and gingival swelling presented in a 40-year-old male patient.	false
+7682fdeaf9b42cb1545d3c916d14c6994429f929	Only three statistically significant elevated risks were found, i.e., with combined disc disease @DISEASE$ among patients with prior @PHENOTYPICFEATURE$ and disk and other musculoskeletal conditions, and NHL following tuberculosis.	false
+fd0c60fe9f681116d7e9e14d390535574e25c463	[A necropsy case of @DISEASE$ (IgA, lambda type) with skin pigmentation, @PHENOTYPICFEATURE$, edema and polyneuropathy.	false
+b36e1b0ffb3d7ada4a6b71af067bb32a58fdc1d7	[A necropsy case of @DISEASE$ (IgA, lambda type) with skin pigmentation, hypertrichosis, @PHENOTYPICFEATURE$ and polyneuropathy.	false
+a371b115c563be8a0b7f751913aa1744013ce498	@DISEASE$ (HIES), also known as Job's syndrome, is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+86d4507bd5e224bef7debde31f6e5f7d793747ed	Hyperimmunoglobulin E syndrome (@DISEASE$), also known as Job's syndrome, is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+11517acf2db2fab5544c18b709b84bd2b787933d	The autosomal dominant (AD) form of @DISEASE$ results from mutations in STAT3 and is characterized by disordered inflammation, connective tissue, and @PHENOTYPICFEATURE$.	false
+a47ee6de7160ee95ac94e4bd187b6484d2cec8cb	Coccidioides should be included in the differential diagnosis for @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+836f9e965799bbe982d462810a1afc6951f69e88	@DISEASE$ (HIES) is a rare primary immunodeficiency disorder defined by high serum immunoglobulin E titers that is associated with recurrent respiratory infections, formation of pneumoatoceles, recurrent skin abscesses, and characteristic dental and @PHENOTYPICFEATURE$.	false
+b2d015cc66cb47f9126dfd354b055524e8b3760e	Hyperimmunoglobulin E syndrome (@DISEASE$) is a rare primary immunodeficiency disorder defined by high serum immunoglobulin E titers that is associated with recurrent respiratory infections, formation of pneumoatoceles, recurrent skin abscesses, and characteristic dental and @PHENOTYPICFEATURE$.	false
+a814d9e9e43e314d87dd4dc2902957ddb48284cb	Hyperimmunoglobulin E syndrome (@DISEASE$) is an inborn disorder characterized by recurrent skin and respiratory tract infections, @PHENOTYPICFEATURE$, chronic eczema and elevated serum IgE.	false
+d22b38d4bf0db9fbb5b67e6b46518c16698d5516	@DISEASE$ (HIES) is an inborn disorder characterized by recurrent skin and respiratory tract infections, @PHENOTYPICFEATURE$, chronic eczema and elevated serum IgE.	false
+63a4f071dcad6cc5bcaa6a45f4032025aeef6aab	Analphoid marker chromosome in a patient with @DISEASE$, @PHENOTYPICFEATURE$, and mild mental retardation.	false
+3067272d827ae2815bc1f1f406e08417641b1d0d	Hyper-immunoglobulin E syndrome (@DISEASE$) is a compound primary immunodeficiency characterized by a highly elevated serum IgE, recurrent staphylococcal skin abscesses and cyst-forming pneumonia, with disproportionately milder inflammatory responses, referred to as cold abscesses, and @PHENOTYPICFEATURE$.	false
+f22c795742ee528a4a711f5d0a79613dbf692617	@DISEASE$ is also associated with @PHENOTYPICFEATURE$.	false
+11a875dd313b5cdc2e93ecd3485749704b6fc59a	Hyper IgE syndrome (@DISEASE$) is a primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+217aa90e8a46a01ffdc42ac5f0a806f18cffff12	@DISEASE$ (HIES) is a primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+dd684219d64510cf379df16a7ca3e15767429bf4	Autosomal dominant hyper IgE (@DISEASE$ or Job's) syndrome is a rare primary immune deficiency characterized by eczema, recurrent skin and lung infections, extremely elevated serum IgE, and a variety of connective tissue and @PHENOTYPICFEATURE$.	false
+51243898c9c2497e4be2db3324d68238b0dc1f0d	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by @DISEASE$ (PNDM) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	false
+f6a3c07e045a9b78bdbe1123a7a1d21d23ad77e8	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (@DISEASE$) associated with @PHENOTYPICFEATURE$, growth retardation and liver dysfunction.	false
+d11ec0fd0f868086b4916c1686645ead19906d2a	Programmed electrical stimulation, also known as electrophysiologic studies (@DISEASE$), is a cardiologic technique used to help guide physicians in their management of selected patients with @PHENOTYPICFEATURE$.	false
+079a6eaf185a3d68eab42d404c201af6bb932771	@DISEASE$ also provided an explanation about the mechanism of @PHENOTYPICFEATURE$ and successfully guided the management of these patients, as well as enhanced improvement in the quality of life.	false
+dba677d72d88652c6877a512c22c4f7bd6199e11	Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-@DISEASE$-@PHENOTYPICFEATURE$ and mental retardation ranging from mild to severe.	false
+93573041a1b1f21687d638633f286427890bb3de	Indications for @DISEASE$ were Wolff-Parkinson-White (WPW), documented @PHENOTYPICFEATURE$, or suspected arrhythmia.	false
+fbae3049e6814e537aa349693d01b9a73fcc5746	This very fast VT incurs at least a similar risk of @PHENOTYPICFEATURE$ or death as inducible standard VT (CL>230 ms) and a significantly higher risk than patients with a negative @DISEASE$.	false
+3747f1fb60df0f118b8e63baa5d67710bd44966a	We present the case of a 20-year-old girl with Down's syndrome, hypothyroidism, acne and @PHENOTYPICFEATURE$, who had a 2-year history of multiple atrophic lesions with an arciform pattern on the distal extensor portions of both thighs, histologically showing the typical features of @DISEASE$.	false
+8aa66007d455aae682cd09ce2b208394b3b2aea0	It is characterized by the association of a progressive spondylo-@DISEASE$-@PHENOTYPICFEATURE$ and mental retardation ranging from mild to severe.	false
+cee2c3a0ee61a08088dcaee9ef4e8490e6d5552e	Electrophysiologic studies (@DISEASE$) are often useful in managing patients with @PHENOTYPICFEATURE$, while transcatheter ablation, an investigational technology, holds promise as a cure for many of these disorders.	false
+3fba38561564315b424b56b8f8919d91baf05b95	During follow-up, 916 spontaneous @PHENOTYPICFEATURE$ episodes occurred in 16 of 25 @DISEASE$ patients (64%) and 967 episodes occurred in 31 of 42 ENDO patients (74%) (P = NS).	false
+9def8629bc6c9c36179d20393d84135bcdc94f34	During follow-up, 875 spontaneous @PHENOTYPICFEATURE$ episodes (AE) occurred in 15 of 25 @DISEASE$ patients (60%), versus 652 in 28 of 42 ENDO patients (67%; P = NS).	false
+bf6600480450034b62e922e5e8288b7766b9b760	Clinical studies of gabapentin in @PHENOTYPICFEATURE$, such as Parkinson disease, essential tremor and atrophic @DISEASE$ are discussed in the paper.	false
+772d8607aa8fb92af57f4e5e92846f39f49a3b6a	Overall, improvements in subscales of the Preschool Language Scale (@DISEASE$), Vineland Adaptive Behavior Scale (VABS), Aberrant Behavior Checklist (ABC) and @PHENOTYPICFEATURE$ symptoms questionnaire (ASQ) were seen.	false
+5db54093625fe958b2103de0bba765f286f9888d	There is much hope that those peptides may prove to be useful in the treatment of serious neurological diseases such as Alzheimer's disease, amyotropic @DISEASE$, Parkinson's disease, AIDS related neuropathy, diabetic neuropathy, @PHENOTYPICFEATURE$, stroke and nerve injury.	false
+709ff2bcb34d21906ba5d06d187a7b44a9d7e5be	The reciprocal duplication leads to dup(17)(p11.2p11.2) associated with the Potocki-Lupski syndrome (@DISEASE$), a neurological disorder whose features include @PHENOTYPICFEATURE$.	false
+60f272930251a4bcb37084943ef8fa679c5257dd	Recommendations for use of IVIG were made for 14 conditions, including acute disseminated encephalomyelitis, chronic inflammatory demyelinating polyneuropathy, dermatomyositis, diabetic neuropathy, Guillain-Barr? syndrome, Lambert-Eaton myasthenic syndrome, multifocal motor neuropathy, multiple sclerosis, myasthenia gravis, opsoclonus-myoclonus, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, polymyositis, Rasmussen's encephalitis, and stiff person syndrome; IVIG was not recommended for 8 conditions including adrenoleukodystrophy, amyotropic @DISEASE$, @PHENOTYPICFEATURE$, critical illness polyneuropathy, inclusion body, myositis, intractable childhood epilepsy, paraproteinemic neuropathy (IgM variant), and POEMS syndrome.	false
+9aa5fbdbc36f2a70e94145aec8478962335f59a2	We conclude that the @DISEASE$ analysis can successfully summarize the correlations between a large number of variables, and that @PHENOTYPICFEATURE$, neck size, and certain cephalometric measurements may be used together to evaluate OSA severity.	false
+0c22546a295dfafa368c5c0ea4713779b33f15d2	Cochlear implantation in children with @PHENOTYPICFEATURE$ less than 12 months of age was associated with better @DISEASE$-AC than in children implanted over 12 months of age up to 2 years after implantation.	false
+e6c88a3a2129199a5b5ebcc53196096e8ca553f4	Perceived life stress (@DISEASE$) and cognitive restraint are associated with increased comfort food intake under stress and lead to weight gain and @PHENOTYPICFEATURE$, but the mechanisms by which they do so remain unclear.	false
+d5ddd3572d5eb1f9bad48d32e74ee0864707587f	The use of metoclopramide in the treatment of neurogenic bladder, orthostatic hypotension, tumor-associated gastroparesis, nonprolactinemic amenorrhea, @PHENOTYPICFEATURE$, @DISEASE$, anorexia nervosa, and hiccups, as well as an adjunct to migraine therapy, has been investigated, but sufficient evidence has not been accumulated to advocate the use of metoclopramide in these disorders.	false
+97fa763d77159e7f2d5f0e3ae6808d2984b734e4	Issues in differential diagnosis are discussed for the following findings: internal gallbladder echoes (calculi vs tumefactive sludge, air, hematobilia, parasitic infestation, cholecystosis, neoplasia, and artifacts), gallbladder wall thickening (acute cholecystitis vs acalculous cholecystitis, artifacts, ascites, hypoalbuminemia, hepatitis, and sclerosing cholangitis), pericholecystic fluid (cholecystitis vs ascites, perforated ulcer, and trauma), bile duct dilatation (biliary obstruction vs sclerosing cholangitis, biliary air, anomalous portal system, @PHENOTYPICFEATURE$, @DISEASE$, and cholangiocarcinoma), perinatal and neonatal biliary disease, and sclerosing cholangitis.	false
+1961f30aab4229f9733257c985c6f30d792ee957	Among four congenital cholestatic syndromes (@PHENOTYPICFEATURE$, Alagille syndrome, @DISEASE$ and congenital hepatic fibrosis, and progressive familial intrahepatic cholestasis), the published data on outcomes of the syndromes into adulthood suggest that a spectrum of severity of liver disease can be expected, from cirrhosis (almost universal in adults with biliary atresia who have not required liver transplantation) to mild and subclinical (eg, in the previously undiagnosed affected parent of an infant with Alagille syndrome).	false
+1dcf48b410c4373df12db833a1fdc3111f260d03	The primary liver disease was hepatocellular carcinoma second to viral hepatitis in 15 patients, Wilson disease in 7 patients, cryptogenic cirrhosis in 3, familial hypercholesterolemia in 3 patients, and 1 each patients of Byler disease, @DISEASE$, tyrosinemia, Budd-Chiari syndrome, congenital hepatic fibrosis, alcoholic cirrhosis, and @PHENOTYPICFEATURE$.	false
+3212ec361bbdb49a0c644ccb754be2ecb8116c59	Family physicians may have the main role in managing patients with @DISEASE$ with early @PHENOTYPICFEATURE$.	false
+dca6ff6e8afe6e1019a505962617edb4b6d94354	Here, a patient with @DISEASE$ and liver cirrhosis was hospitalized for vomiting, @PHENOTYPICFEATURE$, and melena.	false
+f397fbe69abbb76f6cc200c2f7b1ee90508377c1	Here, a patient with @DISEASE$ and liver cirrhosis was hospitalized for @PHENOTYPICFEATURE$, abdominal pain, and melena.	false
+d24e9df0c8907dd2307428809465aa328247dbb6	@PHENOTYPICFEATURE$ and subnormal total testosterone levels in men with @DISEASE$.	false
+834aec9489e4f940531cc13b8817e62cbb68aefb	Substantial evidence showing an association between @DISEASE$ (T2D) and @PHENOTYPICFEATURE$, cognitive impairment, and dementia is accumulating.	false
+5cb6816bf8545d16cdca2c8d40f5e2bc4fc64b48	Substantial evidence showing an association between @DISEASE$ (T2D) and cerebral atrophy, @PHENOTYPICFEATURE$, and dementia is accumulating.	false
+b3e94dee8ac84195c19683349e61c15748ede245	A 76-year-old woman with a history of @DISEASE$ presented with severe @PHENOTYPICFEATURE$, vomiting, and fever requiring hospital admission.	false
+4735e18202928fc60a056bb539b2fcc0b8a9fdd9	A 76-year-old woman with a history of @DISEASE$ presented with severe abdominal pain, @PHENOTYPICFEATURE$, and fever requiring hospital admission.	false
+258ab8c03ab622607e5d5567da697186effd353d	What are the effects of treatments in people with @DISEASE$ and early @PHENOTYPICFEATURE$?	false
+67f1dd901ab33aabf591c658540b82397ee527c0	Transferrinuria in @DISEASE$ patients with early @PHENOTYPICFEATURE$ and tubulointerstitial injury.	false
+f2362c2c2c47b5f5811f5ff522ffdf5bf1d54942	A 49-year-old woman with poorly controlled @DISEASE$ was admitted to hospital complaining of fever, vomiting, and lower @PHENOTYPICFEATURE$.	false
+e53cc51f2550a7283ffa4c176c7cf22c9efec29a	A 49-year-old woman with poorly controlled @DISEASE$ was admitted to hospital complaining of fever, @PHENOTYPICFEATURE$, and lower abdominal pain.	false
+976461883d95d2d6c0e23bea98e7efce3406c184	Does @DISEASE$ delay renal failure in autosomal dominant @PHENOTYPICFEATURE$ disease?	false
+258ab8c03ab622607e5d5567da697186effd353d	What are the effects of treatments in people with @DISEASE$ and early @PHENOTYPICFEATURE$?	false
+f06a8c983abc1289c7b5fb6d63e127e29f373232	He published over 40 articles on topics of neurology and neuropathology, including megalencephaly, @PHENOTYPICFEATURE$, progressive paralysis, @DISEASE$, dengue fever, and narcolepsy.	false
+d643dbe4407e219d006911e4fe31c79521dfe690	Three siblings from this family with @DISEASE$, in which the parents were consanguineous, had megaduodenum, long-segment Barrett's esophagus, and different @PHENOTYPICFEATURE$.	false
+e098135670d0876ab1d1dfb7622eef4156e96888	Tender @PHENOTYPICFEATURE$ nodules and plaques developed on the abdomen and legs of two women, 45 and 48 years of age, with @DISEASE$ as a result of chronic renal failure caused by polycystic kidney disease.	false
+655721a758836c44c7316815a6ebafd253a039f6	The causes of pruritus in uremic patients are still unknown: xerosis, intradermic microprecipitation of divalent ions, @DISEASE$, @PHENOTYPICFEATURE$, allergic reactions and hypersensitivity, histamine and others have been considered as pathogenetic factors.	false
+9a95af653157b309230b236c56adcac0cd3d2cc9	Renal @DISEASE$ or renal rickets, renal @PHENOTYPICFEATURE$, renal infantilism, renal osteitis fibrosa cystica.	false
+3ee13a423dd0b510f4aa29c74512f1bd6df22a34	@DISEASE$, osteomalacia and @PHENOTYPICFEATURE$ in a patient on anticonvulsant therapy.	false
+4125c6071f1a4a0bf104538ad28c1f28850a7e69	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, @DISEASE$, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+67474407321486c43968cbf52fa7ad8b4b354261	Rather than a genuine hypertensive disease, preeclampsia is mainly a systemic endothelial disease causing activation of platelets and diffuse ischemic disorders whose most obvious clinical manifestations involve the kidney (hence the proteinuria, edema and @PHENOTYPICFEATURE$), the liver (hence the hemolytic elevated liver enzymes and low platelets, or @DISEASE$), and the brain (hence eclamptic convulsions).	false
+4f4a649eb47a6a30b77b8ead959a52164630cff7	At 29 gestational weeks, a 35-year-old Japanese woman was diagnosed with @DISEASE$ based on bilateral @PHENOTYPICFEATURE$, diminished sensation and reflexes, and laboratory findings.	false
+a06336c73d631c546ca44c4f355bbb675b29d05e	We reviewed 28 articles (case reports, original articles and reviews) describing PRES as well as a case of a severe, immediate postpartum @DISEASE$ (haemolysis, elevated liver enzyme levels, low platelet count) with PRES without @PHENOTYPICFEATURE$.	false
+6cc70cafbda894d6d557c078944b4079d7d87acc	We describe a case of a severe, immediate postpartum @DISEASE$ (hemolysis, elevated liver enzyme levels, low platelet count) with reversible posterior leukoencephalopathy (RPLS) characterized by @PHENOTYPICFEATURE$, altered mental status, and visual loss in a 37-year-old primigravid woman.	false
+f1b8acb4ff58f7758c3f7f7e3e8d70ee46057c9e	Interestingly, the patients in 7/8 families had a complex phenotype, with peripheral neuropathy, severe upper limb amyotrophy (@DISEASE$-like), mental impairment, parkinsonism, @PHENOTYPICFEATURE$ and/or retinitis pigmentosa as variably associated features.	false
+0eeb715bf646d8fd711d1ed8ee0e39e0504704d2	Skewed X-inactivation in carriers establishes linkage in an @DISEASE$-@PHENOTYPICFEATURE$ syndrome.	false
+8cd006fc0802acf39956241f235e771f6c257494	Physical fine mapping of genes underlying @DISEASE$ and non fra (X)-X-linked @PHENOTYPICFEATURE$ at Xq21.	false
+b48bb0df722dc1014909b32385b531346b58e39e	Genes for @DISEASE$ and @PHENOTYPICFEATURE$ were tentatively assigned to interval 2. Deletions of intervals 4 through 7 were not associated with any clinical abnormality.	false
+fd1b2f0dcac6e6efcd83af8c9f59cd7de4a895fd	Among a series of 10 patients with @DISEASE$, several had peripheral @PHENOTYPICFEATURE$ and 3 had acroosteolysis.	false
+3dfefe4bdac23e23b4a096efd4e07c6232e3d9d3	Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and @DISEASE$ (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of @PHENOTYPICFEATURE$ at young age.	false
+3d3ca660e5ee96c9b993d3c383b3e41ae7f38435	@PHENOTYPICFEATURE$ and acroosteolysis in @DISEASE$.	false
+d1baece6b50c09fdbb6a92479125285c133cf5bf	@DISEASE$ (AESD) is a childhood encephalopathy following severe @PHENOTYPICFEATURE$.	false
+94374e0bed3516f15542ef8421e45b88678f377d	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is a childhood encephalopathy following severe @PHENOTYPICFEATURE$.	false
+638ca350e6425f0d5683aba901ce9b260848364b	Outcomes after prolonged @PHENOTYPICFEATURE$ are usually good, but mental deficit and/or epilepsy often remain in @DISEASE$.	false
+7b0830775d06030647fb7037dd49a4bee158c50f	@DISEASE$ (AESD) is a childhood encephalopathy following severe @PHENOTYPICFEATURE$, leaving neurologic sequelae in many patients.	false
+3ba126530ffb7b3c81fea752b2b57e35fb37d573	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is a childhood encephalopathy following severe @PHENOTYPICFEATURE$, leaving neurologic sequelae in many patients.	false
+bf1424159bbddaaada443896dc00fb74231aa44a	The initial neurologic symptom of @DISEASE$ is typically a @PHENOTYPICFEATURE$ that frequently lasts longer than 30 minutes.	false
+9d13340e713ebf97ba1f8f55601fee527acc5438	@DISEASE$ is characterized by a prolonged @PHENOTYPICFEATURE$ on day 1 followed by secondary seizures and MRI abnormality on days 4-6, resulting in high incidence of neurological sequelae.	false
+81c37d7861968821c341b90d60e384e401bbd1e2	The pathogenesis of @DISEASE$ is considered to be @PHENOTYPICFEATURE$ susceptibility and excitotoxicity, which may be caused by sodium channel dysfunction in some cases.	false
+b7aa8aa7566331dbbe8c04c18e5393d922bf0a63	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is reported only in East Asian infants, characterized by a @PHENOTYPICFEATURE$ (usually >30 min) as the initial neurological symptom on day 1, followed by secondary seizures at day 4 to 6; affected children display variable levels of neurological sequelae.	false
+51ff311812a1812272ea274bee6833c5e67b9f3a	@DISEASE$ (AESD) is reported only in East Asian infants, characterized by a @PHENOTYPICFEATURE$ (usually >30 min) as the initial neurological symptom on day 1, followed by secondary seizures at day 4 to 6; affected children display variable levels of neurological sequelae.	false
+2857c2bf8b020d02a3b955e95f5c0ad8cb75e031	Furthermore, we found 18 "atypical" cases (20.5% of all FCD cases and 26.6% of FCDs associated with a principal lesion): 10 cases of associated @DISEASE$-hippocampal sclerosis (HS) and 8 cases associated with FCD II-epilepsy-associated @PHENOTYPICFEATURE$ (EATs).	false
+76fc2f4f810a982ae8e684abc76f5581ba0f4652	In contrast, a new @DISEASE$ is introduced, which occurs in combination with hippocampal sclerosis (FCD Type IIIa), or with epilepsy-associated @PHENOTYPICFEATURE$ (FCD Type IIIb).	false
+d833e0bb203806c01e3c1f4a628dcbd4f06852d1	Abnormal cortical layering, overall, represents the kind of FCD more commonly associated with seizure-related low-grade @PHENOTYPICFEATURE$, whereas @DISEASE$ is more frequently associated with GG.	false
+6e061488ac4859aa6974bfe5a0a68b2d4123b3c8	Presence of CoA in the neocortex of 9 patients was associated with hippocampal sclerosis (FCD type iiia, 7 cases), disembryoplastic neuroepithelial @PHENOTYPICFEATURE$ (FCD type iiib, 1 case), and cavernous angioma (@DISEASE$, 1 case).	false
+0e225d6f3c7b3f3ca8ba1ff139567632f0912fb9	Presence of CoA in the neocortex of 9 patients was associated with hippocampal sclerosis (@DISEASE$, 7 cases), disembryoplastic neuroepithelial @PHENOTYPICFEATURE$ (FCD type iiib, 1 case), and cavernous angioma (FCD type iiic, 1 case).	false
+3d1740bad7e0cdd57ff6031bffb2a55f9a69c9ab	To compare the clinical aspects of @PHENOTYPICFEATURE$ associated with Wegener's granulomatosis (WG), Churg-Strauss syndrome (@DISEASE$) and microscopic polyangiitis (MP).	false
+d950ec59a840b3f79ec8eb31af5c95cf13cd3d4d	The present study aimed to evaluate the associations between MHE, clinical characteristics and questionnaire items regarding @PHENOTYPICFEATURE$ and cirrhosis-related symptom score (@DISEASE$).	false
+a9752752d06d3a50fc9d98c198343657b3343834	A @PHENOTYPICFEATURE$ may be the initial manifestation of @DISEASE$.	false
+fdd2e846a4710a01dcd2af40ac97de955369c83e	Correlations were found between the @DISEASE$ and: the total PSQI score, the components C1 sleep quality, C5 @PHENOTYPICFEATURE$, C7 daytime dysfunction.	false
+306b3078e9ca581445d9187e8bb713316749c1c3	Herein, we report a patient with @DISEASE$, who initially presented a skin eruption of @PHENOTYPICFEATURE$ urticarial-plaques, vesicles, and blisters.	false
+4c4892e6506630a42020e645e094b26a9d0a69f5	Four years ago, she was diagnosed as having @DISEASE$ based on asthma, hypereosinophilia and @PHENOTYPICFEATURE$, and corticosteroid therapy achieved a remission.	false
+45ea37d546ba64bf1452f214e7240b42506a7409	We report a case of Churg-Strauss syndrome (@DISEASE$) complicated by severe cardiac failure and @PHENOTYPICFEATURE$.	false
+ed43a5bc5e8c93372894d7eacdea69ccb9270e25	@PHENOTYPICFEATURE$ occurred in 27/64 patients: six with WG, 15 with @DISEASE$ and six with MP.	false
+677b08e801a328ceaca6a2f33240304fdf28ccaf	@PHENOTYPICFEATURE$ in WG occurs less frequently, later in the disease course and in a milder form than in @DISEASE$ and MP.	false
+382c7e370e310ba510c0c0dc1eb8a3367a3e413e	In these diseases, the frequency of concomitant @PHENOTYPICFEATURE$ is particularly high in MPA and @DISEASE$.	false
+7960ccb21aea959e48680d218743b523768c118b	A case of @DISEASE$ and type V @PHENOTYPICFEATURE$.	false
+573767fcb1b081fcb235e13ae5a728a7a70a0e02	A 29-year-old woman developed @DISEASE$ following removal of a pituitary chromophobe adenoma, and this was complicated by type V @PHENOTYPICFEATURE$ and obesity.	false
+2fefbcd4aa391240f5e2bac6af8e1a999de2d439	All symptoms but monocular @PHENOTYPICFEATURE$ and @DISEASE$ remitted.	false
+6efdd5cac2281490d35357bfe0ff6f1f9bbca280	A 41-year-old man with a past medical history of pituitary adenoma and @DISEASE$ presented with imbalance and @PHENOTYPICFEATURE$.	false
+a8636d2d517e3c90513f2b77460f95828fb436a4	In the 2nd case, the amyotrophic affection of the pelvic girdle was associated with progressive @PHENOTYPICFEATURE$, diabetes insipidus, and anterior @DISEASE$.	false
+7a553be6ba8eb627774b9e2706d9cab076814644	A young woman developed sinusitis, otitis media, asymptomatic pulmonary density, @PHENOTYPICFEATURE$, and anterior @DISEASE$ over 7 years.	false
+f92ade2d59a2c05a78e6c242e554b4ca63166942	Endocrine disorders observed in HIV-positive patients include adrenal abnormalities, hyporeninemic @PHENOTYPICFEATURE$, @DISEASE$, pancreatic abnormalities, thyroid and parathyroid disorders, and testicular abnormalities.	false
+cd49621cb3089c9b2daecff6175da45737afb7fd	A 13-year-old boy presented with bilateral progressive proptosis, abduction deficit, @PHENOTYPICFEATURE$ and features suggestive of @DISEASE$ secondary to a sphenoid sinus mucocele.	false
+8973d316d865736ad923016f3c88437591c4286e	3. The development of diabetes mellitus in a patient with @DISEASE$ and renal @PHENOTYPICFEATURE$.	false
+d5c91f569c0d834acd056cae3dc20f1b1761c682	Laboratory examination showed @DISEASE$ (decreased ACTH, TSH), renal dysfunction and @PHENOTYPICFEATURE$.	false
+f03cf6a21d1b916e2a7d15995e549414d69d5b36	Trichothiodystrophy (TTD), also known as @DISEASE$, is a rare autosomal recessive multisystem disorder, which manifests with brittle hair, @PHENOTYPICFEATURE$, ichthyosis and decreased fertility.	false
+ac5c757f3214d4e3e902df89af12e81e974c2152	@DISEASE$ is a rare monogen-inherited ektodermal dysplastic syndrome with ichtyosis, fragility of the hair and physical and @PHENOTYPICFEATURE$.	false
+c143e6f7ef44d95d5a504cae6334e5b3952518e5	Previous studies suggest that obsessive-compulsive disorder (@DISEASE$) is associated with moderate @PHENOTYPICFEATURE$.	false
+b3c920ebe793e4231bed9961cee43be211c24e4a	Obsessive-compulsive disorder (@DISEASE$) causes neural dysfunction associated with @PHENOTYPICFEATURE$ and emotional dysregulation.	false
+5ea9bf51994dbad3b48f796322188ca5bea0a8ca	Patients with @DISEASE$ appear to have wide-ranging @PHENOTYPICFEATURE$, although their impairment is not so large in general.	false
+0831a6d7cf2ce03366a8de32a7f89bf72d1a2559	@PHENOTYPICFEATURE$ during activities of daily living was assessed with the Oxygen Cost Diagram (@DISEASE$).	false
+b3ba3480bc9933bcfc3523155300ea4baebe416c	This literature review aimed to examine the relationship between @PHENOTYPICFEATURE$ and obsessive-compulsive disorder (@DISEASE$).	false
+4f4afe67ac3719266befe1a0014d6aed10a29cfc	Compared to patients without comorbid OCD, those with comorbid @DISEASE$ had more severe @PHENOTYPICFEATURE$, with medium to large effect sizes.	false
+3d42d2b0f66c1eff9134155bc134af1e42a58a3f	Error monitoring and response inhibition is a key @PHENOTYPICFEATURE$ in obsessive-compulsive disorder (@DISEASE$).	false
+530733f41625aca3d5a9f2a7d8e19a7a569cb841	The aim of our study was to examine the association between @PHENOTYPICFEATURE$ and current source density markers in patients with @DISEASE$.	false
+86413f7e0f7d63ade56fb6a361bd370d7f20691c	@PHENOTYPICFEATURE$ are a matter of emotional context: inflexible strategy use mediates context-specific learning impairments in @DISEASE$.	false
+4555d388adffe39602f3d998d8fa3b09444c9d04	The nature of @PHENOTYPICFEATURE$ in obsessive-compulsive disorder (@DISEASE$) is characterized by contradictory findings in terms of specific neuropsychological deficits.	false
+b2df414244e91f9afa763bcac3eafb4ae161200b	The 2001 Nosology of the International @PHENOTYPICFEATURE$ Society (Hall CM, Am J Med Genet 2002: 113: 65) classifies NAO as a variant of Torg syndrome, while @DISEASE$ is considered as a separate disorder.	false
+caa69211be6ad869beef1270e7d92d14768a0a6a	@DISEASE$ (WS, MIM #277950) is an extremely rare autosomal recessive @PHENOTYPICFEATURE$ characterized by progressive joint destruction and osteolysis.	false
+9e566246ac97e3a424852813486a4e5d86455f01	The Authors report a case of Oral-Facial-Digital syndrome type II (@DISEASE$); three cephalometric tracings and a clinical study were carried out, in order to evaluate the oro-@PHENOTYPICFEATURE$.	false
+bd263188cd4f56a42fbcaa4e1f0be6b69add5d88	Opercular syndrome, also known as @DISEASE$, is a @PHENOTYPICFEATURE$ of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles.	false
+91a4f7d9b54c83b7dbe0dc9996506ef8bbaaf6ca	Opercular syndrome, also known as @DISEASE$, is characterised by @PHENOTYPICFEATURE$ of the facial, masticatory, pharyngeal, laryngeal, brachial and tongue muscles.	false
+0bda48b3b9de5e9b36e2981a11e22119f6d75670	To compare the results of penetrating and non-penetrating corneal grafting procedures in @PHENOTYPICFEATURE$ @DISEASE$ patients.	false
+261764c6a2a2f08d55a1989d555abd17e9c65643	One case has been reported previously with pseudohypoparathyroidism and @DISEASE$ without @PHENOTYPICFEATURE$.	false
+9268796a6e4383540e75de6dcc79321726c9e233	Hypokinetic dysarthria (HD) is a frequent @PHENOTYPICFEATURE$ associated with idiopathic @DISEASE$ (PD).	false
+b22c4e06773a5f6a9396f0d2873d0be47811cdd0	@DISEASE$ (PD), a common @PHENOTYPICFEATURE$ disorder, is characterized by progressive loss of dopaminergic (DAergic) neurons in the subtantia nigra pars compacta (SNpc) and gliosis.	false
+e9f18adf1ee27ff055edc44f521bd3583ffb577e	@DISEASE$ and @PHENOTYPICFEATURE$: prevalence and clinico-radiological correlations.	false
+6d4121856c93958e862811ff1e563df4751fb4b7	[Nature of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+ee7056090984b310df23bc97a8ded84e664c0484	@DISEASE$: @PHENOTYPICFEATURE$ and released infantile oroneuromotor activity.	false
+972e8bb78f97121e8fde24631b0536767488d7ec	Progression of voice and @PHENOTYPICFEATURE$ in the course of @DISEASE$: a longitudinal study.	false
+1e041a1fe7c0b12e6e3b1f08d490a93844b8087f	Clinical @PHENOTYPICFEATURE$ in @DISEASE$, progressive supranuclear palsy, and multiple system atrophy.	false
+942f3fcc6616a428a3d2153ab4888c0fdc56a157	Hypophonia is a common @PHENOTYPICFEATURE$ associated with @DISEASE$ (PD).	false
+93856fd78da38b89898314d8791639550163d950	Evidence-based treatment of voice and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b7ded8f546593e931efbb2a249fb59b2895d51f6	Endovascular or surgical therapy has to be considered in patients with flash @PHENOTYPICFEATURE$ or @DISEASE$.	false
+2e32c219c45555ef53821c821eacc3e33747aa94	A rare association of @DISEASE$, renal agenesis, renal arteriovenous fistulae, and @PHENOTYPICFEATURE$: expanding the V in VACTERL association.	false
+3bc8d1fea7a945ec53e692eea59ab5ded1420415	Dominant mutations in GJB2?can be responsible for isolated @PHENOTYPICFEATURE$ as well @DISEASE$ hearing loss associated with various skin abnormalities.	false
+d11d269070883600e4461645606831962743d254	Hereditary forms of hearing loss are classified @DISEASE$, when deafness is associated with other clinical features, or non-syndromic, when @PHENOTYPICFEATURE$ occurs without other clinical features.	false
+080dff550c4304363c4937a2db53c8e3df2fe389	Hereditary forms of hearing loss are classified @DISEASE$, when @PHENOTYPICFEATURE$ is associated with other clinical features, or non-syndromic, when deafness occurs without other clinical features.	false
+315348c5ac254286fcb44f7dd1b8bd4b240eda4c	@PHENOTYPICFEATURE$ can be classified @DISEASE$ or non-syndromic.	false
+56bdc688d294bc8dcb421fb89310465034c3fb48	We describe 2 patients with @DISEASE$ who also developed myocarditis, depressed biventricular function, and @PHENOTYPICFEATURE$.	false
+d43f5e817e8a0766686425300047de2565b1d27c	We here describe an unusual clinical presentation of @DISEASE$, beginning with right-sided cardiomyopathy associated with right @PHENOTYPICFEATURE$.	false
+4f5a26b6b39a4a132c6986a61ba987c647b0aa68	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and @PHENOTYPICFEATURE$, manifested @DISEASE$ (Pendred syndrome) and non-syndromic hearing loss with an enlarged vestibular aqueduct (ns-EVA).	false
+c73588d2be5dfbb64d5c20d1746b0e5a131db410	@PHENOTYPICFEATURE$, facial anomalies, and brachydactyly (Fr?@DISEASE$): a second family.	false
+48259fbc8e85a8530f095281ab0020cf5d797417	@DISEASE$ short stature and @PHENOTYPICFEATURE$ are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping.	false
+909a8644191c1145491f34fa7ea3eda531e8aebb	Given the potentially fatal consequences, myocarditis should be considered in patients with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+c0cfdee45cb02f4f9d56d255e2116f1d5e8ac990	To the authors' knowledge, this is the first report to provide evidence that acute @PHENOTYPICFEATURE$ may lead to @DISEASE$.	false
+cb5fbfa4e41ff56ac648b71ec5a88132c180534b	Finally, @PHENOTYPICFEATURE$ @DISEASE$ expression status was strongly correlated with sFRA levels.	false
+456c9cfa1b5ee5a1f1af945106919157829706aa	Further study is needed to further define the @DISEASE$, delineate its phenotype and determine whether there is some component @PHENOTYPICFEATURE$ associated with it.	false
+3d1d5e3814e08b19b7e0bd9a20a378992f119f20	The relapsed, androgen-insensitive @DISEASE$ @PHENOTYPICFEATURE$ shows a dedifferentiated morphology.	false
+671f12ba5acf94ac827919d4fd48b55230af82ad	Values for the @PHENOTYPICFEATURE$ markers in serum, except for SCC, exceeded cut-off values in some @DISEASE$ patients.	false
+a908cf3389f7104b20f9d93c8d66373a4ea113ab	This study shows no significant difference in FRA expression after chemotherapy, strengthening the rationale for @DISEASE$ targeted diagnostics and therapeutics in FRA expressing @PHENOTYPICFEATURE$, whether newly diagnosed or at recurrence.	false
+7c4bd47d982c1323d4d7b0dd4c3619b02a9b4c0b	This study shows no significant difference in FRA expression after chemotherapy, strengthening the rationale for FRA targeted diagnostics and therapeutics in @DISEASE$ expressing @PHENOTYPICFEATURE$, whether newly diagnosed or at recurrence.	false
+acac4bb09831520da06504f363289da43b5ee11d	The Dunning R3327 @DISEASE$ @PHENOTYPICFEATURE$ contains high levels of TGF-beta 1, which are further increased by combined castration and estrogen treatment.	false
+78ec522f4096d22ac40143ac617e099c1b726117	A companion @DISEASE$ describes @PHENOTYPICFEATURE$ pathology and long-term recurrence and survival.	false
+e2e5a73517b9e5494edee14a219a0f57ec81856e	There have recently been three reports of malignant solid @PHENOTYPICFEATURE$ associated with @DISEASE$(X) syndrome.	false
+372699d04b8ef3e356a2e74757b04893b62eba45	Elevated serum @PHENOTYPICFEATURE$ marker levels were found in @DISEASE$ patients.	false
+69e515d5c253401b9350ce47520d811c32c585cc	Loss-of-heterozygosity (LOH) analysis revealed that AIP is lost in @DISEASE$ @PHENOTYPICFEATURE$, suggesting that it acts as a tumour-suppressor gene.	false
+8dafd6c84783809f7fa2961bef7aef509afd009f	Loss-of-heterozygosity (LOH) analysis revealed that AIP is lost in @DISEASE$ tumours, suggesting that it acts as a @PHENOTYPICFEATURE$-suppressor gene.	false
+091d022cfec54b4446077ebea276693a9a0810a3	Arteriohepatic dysplasia (@DISEASE$, Alagille's syndrome) is presumed to be one of the six known familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or @PHENOTYPICFEATURE$, or both.	false
+d4a217f86271106354a2f3c2c6ee47df2ee2099e	The @DISEASE$ patients with second- or third-stage chronic alcoholism and periodic alcohol consumption typically exhibited recurrent chest pains, @PHENOTYPICFEATURE$, signs of heart failure after an alcoholic bout, and those given to regular drinking had somato-vegetative complaints.	false
+742391f73c2a825b4bd79d581562632ca69ac9d5	@DISEASE$ (RTS) is a multiple congenital anomaly syndrome characterized by @PHENOTYPICFEATURE$, broad thumbs and toes, and mental retardation.	false
+041729bc553ef8cd0f1cdc9b55fef5db5672a971	@DISEASE$ (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and @PHENOTYPICFEATURE$.	false
+bb7126fed8501b991a4e9bbae3fd8951fbc1eb3c	[@DISEASE$ with @PHENOTYPICFEATURE$].	false
+9ff0f2b112614308032c1b5b30231bd7dafe9678	@DISEASE$ (RTS) is a malformation syndrome characterised by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and mental retardation.	false
+bec4a6c4ef69e5de1fc243c543b0e8ba2c131e9e	The @DISEASE$ (RTS) is a well-defined complex of congenital malformations characterized by @PHENOTYPICFEATURE$, broad thumbs and big toes, and mental retardation.	false
+c6c99a4e5bae544b8e4db86fa448d1ed8283843e	@DISEASE$: broad thumbs and great toes, @PHENOTYPICFEATURE$ and mental retardation.	false
+7f90e2da72ddf7c53bcc9ffe01f54fa0f3d28d94	@DISEASE$ (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by @PHENOTYPICFEATURE$, broad thumbs, and broad big toes.	false
+9e569299be56df9c1a9f941360b557ddd5abc060	The @DISEASE$ (RTS) is a well-defined syndrome with @PHENOTYPICFEATURE$, broad thumbs, broad big toes and mental retardation as the main clinical features.	false
+755cc04664864e19ee9daedff9b47d4073b3ec71	@DISEASE$ 2 with cerebellar abnormality and @PHENOTYPICFEATURE$.	false
+403a21a7dac0b2226179d0bac04a5095a86c7c90	@DISEASE$: broad thumbs and toes, @PHENOTYPICFEATURE$ and mental retaradtion.	false
+5f6802cab59ad29588f367a7f963fc5ee026f1d9	In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, @DISEASE$ syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous @PHENOTYPICFEATURE$, and cutaneous-skeletal hypophosphatemia syndrome.	false
+17b309f424a2882498eb73f01f4dd28381387ab5	In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic @PHENOTYPICFEATURE$, nevus comedonicus, @DISEASE$ syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome.	false
+2d5965bb2c844a3868c68541733fb657651bde20	@DISEASE$ with linear eruptions, @PHENOTYPICFEATURE$ bands, and verruciform xanthoma.	false
+2f139b4dceb13b7a14a513f0bb2da2e507b92092	With regard to psychosomatic diseases, irritable colon syndrome, @DISEASE$, mild diabetes mellitus, @PHENOTYPICFEATURE$ and borderline hypertension were good indications for this therapy.	false
+7c60eb3b9a2ef061d02858dd5f2f8876dcd4276e	In addition, sympathetic neural activity during neurally mediated (pre)syncope, the @DISEASE$ (POTS), @PHENOTYPICFEATURE$, the Polycystic Ovary Syndrome (PCOS), gestational hypertension, and preeclampsia, chronic essential hypertension, heart failure, and myocardial infarction in women are also reviewed briefly.	false
+09aa9e600b740e9d70f7040782386327e09b3d4d	In addition, sympathetic neural activity during neurally mediated (pre)syncope, the @DISEASE$ (POTS), obesity, the Polycystic Ovary Syndrome (PCOS), gestational hypertension, and preeclampsia, chronic essential hypertension, @PHENOTYPICFEATURE$, and myocardial infarction in women are also reviewed briefly.	false
+64426c41a67fc1ccce42a110696e9e92c99baffe	Cardiovascular @PHENOTYPICFEATURE$ may present as Orthostatic Intolerance, Orthostatic Hypotension, @DISEASE$, or Neurally Mediated Hypotension.	false
+022af8cda65eb85367903f0c47c35d2d95a61e7f	It is used in adults for management of @PHENOTYPICFEATURE$ and angina, but promising results have been obtained in @DISEASE$ (POTS).	false
+0cd81af1d0c88277c0971b3fce64ca68759cfc5d	Preliminary results of a further study conducted in 48 patients have confirmed the high frequency of early TP involvement (2/3 of the cases) in temporal lobe @PHENOTYPICFEATURE$, the clinical characteristics of which did not differ from ictal clinical findings usually described in the mesio-@DISEASE$ syndrome.	false
+991a4a2b1b8a83c5525cc994d15289f5711ddac6	Persistent neuroinflammation is implicated in the pathogenesis of @PHENOTYPICFEATURE$ and neuronal degeneration of @DISEASE$ (TLE).	false
+e3ac1fae534fb56672e11253084f26e330c69a6c	A total of 17 patients had a unilateral TL seizure onset, 11 of these patients had a mesial @DISEASE$ syndrome (MTLE), with mesial gliosis and a mesial TL @PHENOTYPICFEATURE$ origin.	false
+0f4ba2233841c96324b962e3e352dd63882ad51c	A total of 17 patients had a unilateral TL @PHENOTYPICFEATURE$ onset, 11 of these patients had a mesial @DISEASE$ syndrome (MTLE), with mesial gliosis and a mesial TL seizure origin.	false
+1a0e2e32c5b8193619c3a81a9e1d1e3fc8470b1b	In this review, we examine current information about the pathology and physiology of mesial @DISEASE$ syndrome, with special emphasis on the distribution of the changes and patterns of @PHENOTYPICFEATURE$ onset.	false
+c243db712d75f7337b2d3b86c5a2b1fee235f701	Surgery for the mesial @DISEASE$ syndrome is highly effective in controlling @PHENOTYPICFEATURE$ in as many as 80% of the patients who undergo this procedure.	false
+7103dde7189fbac83d9d6858f4bb5e4acb90e759	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of renal failure or @PHENOTYPICFEATURE$; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/thrombotic thrombocytopenic purpura (@DISEASE$) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+0e9430980a1ecdc0560289d9243a22237c4dd985	We conclude that "true" SRC diagnosed by restrictive criteria is still a rare life-threatening syndrome, and, unfortunately, no clear predictive biochemical or clinical signs could be identified; vascular renal involvement correlates to the duration of PSS independently of previous clinical evidence of renal failure or @PHENOTYPICFEATURE$; a glomerular pattern similar to that reported for hemolytic-uremic syndrome (HUS)/@DISEASE$ (TTP) syndrome is directly related to the degree of acute renal involvement; SRC may occur even in the absence of hypertension, mainly if cardiomyopathy is present: in our experience.	false
+cc2ee8d76b0c7be18b6288b4f068fbfb281ace58	The patient had multiple organ involvement resulting from thrombotic microangiopathy that mimicked so-called normotensive @PHENOTYPICFEATURE$ renal crisis, and died mainly of massive pulmonary hemorrhage caused by @DISEASE$.	false
+913cd4243ae76ee6739b2e98d5866720c9ba2a82	TMA comprises a spectrum of microvascular thrombosis syndromes associated with multiple pathogenetic factors, that is, typical and atypical haemolytic uraemic syndrome (HUS), @DISEASE$ (TTP), malignant @PHENOTYPICFEATURE$, drugs or systemic autoimmune diseases or antibody-mediated rejection.	false
+8076a1793fd2ff45db201b052d9b4f951cfc94e1	Early detection of thrombocytopenia and insidious hemolysis might be essential for starting effective plasmapheresis treatment in a part of patients with @PHENOTYPICFEATURE$ kidney who present with @DISEASE$ (TTP) like disorder.	false
+18076db68496858f3e34d10807b7279c2c754dac	Early detection of thrombocytopenia and insidious hemolysis might be essential for starting effective plasmapheresis treatment in a part of patients with @PHENOTYPICFEATURE$ kidney who present with thrombotic thrombocytopenic purpura (@DISEASE$) like disorder.	false
+29b30953d856e3d2789dbf042cdb113afe02e3bc	Among the 36 TMA patients, their clinical diagnoses of renal TMA were as followings: 2 patients combining with @DISEASE$-hemolytic uremic syndrome, 2 patients combining with anti-phospholipid syndrome, 2 patients with malignant @PHENOTYPICFEATURE$, 1 patient with scleroderma and the other 29 patients presenting with isolated renal TMA.	false
+0e88273d4edcd6756b51f951a2782455fd19d678	@PHENOTYPICFEATURE$ renal crisis or @DISEASE$: seeing through the masquerade.	false
+fa2341ee1529baab622051ee6cdd10d6ac2ddcfe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6e6e39b649a0dee331d83fee4e3a0aa82b5792fa	@DISEASE$ is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, @PHENOTYPICFEATURE$ and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume.	false
+01b9a27ce754fc2dc76b6557573477fa82474126	Chronic mountain sickness (@DISEASE$) is considered to be a loss of ventilatory acclimatization to high altitude (>2500m) resulting in marked arterial @PHENOTYPICFEATURE$ and polycythemia.	false
+c08a9734182f275fda41e4f06599761f67d10151	The broad phenotypic spectrum ranging from malodor, intellectual disability, to epilepsy, @PHENOTYPICFEATURE$, or @DISEASE$ is presented, highlighting the central role of choline within human metabolism.	false
+3e1204ab0a92e462e071d50855835f096889c45c	The major new findings were that in patients with @DISEASE$, (1) SDB and nocturnal @PHENOTYPICFEATURE$ was more severe (P < .01)	false
+88405c1771eae00ef2530e42b1bbf562588db2dd	@PHENOTYPICFEATURE$ Severity Staging had the highest correlation with changes in macular vascular microcirculation metrics (r=0.734 for BFI; r=0.647 for VAD) and VF @DISEASE$ had highest correlation with macular vascular microcirculation metrics (r=0.887 for BFI; r=0.903 for VAD).	false
+b580a9eace919918fb01aa63a2d7e4d0956a488b	The clinical phenotype ranges from the classical presentation of a @DISEASE$ in one patient (p.Pro210Leu), to severe neurodevelopmental delay with @PHENOTYPICFEATURE$ (p.Ser94Arg) and extend the clinical outcomes to a more severe spectrum with infantile lethality (p.Val112Glu).	false
+8886751429084f907dabc9ec623234e5d61731bd	Ten subjects were healthy controls,with hematocrits lower than 61%, and ten had chronic mountain sickness (@DISEASE$), a syndrome of maladaptation to altitude, characterized by polycythemia (hematocrit > 61%), profound @PHENOTYPICFEATURE$, and neurologic symptoms.	false
+cf0c9855b724fdaea3726e16939a0d543b774949	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 @PHENOTYPICFEATURE$, 156 follicular thyroid carcinoma [FTC], 50 @DISEASE$, 65 medullary thyroid carcinoma, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+1b3a8c8ced9673217a8688c6c9fae2c90c467081	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 follicular thyroid carcinoma [FTC], 50 @DISEASE$, 65 @PHENOTYPICFEATURE$, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+c462ce19371f94ea131cd0ba448ff92f9a40710c	When evaluated by histologic type, @PHENOTYPICFEATURE$ was significantly positively related to papillary, follicular and @DISEASE$, whereas it revealed an inverse association with medullary thyroid cancer.	false
+176a283781611bd3f480cb4bcdb49e9fb9f784ae	Nephronophthisis (NPHP) is a renal @DISEASE$ that causes chronic kidney disease and is characterized by @PHENOTYPICFEATURE$ at the cortico-medullary border.	false
+504dd7e19d0ce91ef192b34ed856587df5116940	Loss of cilia and ciliary protein causes various abnormalities (called @DISEASE$), including situs inversus, renal cystic diseases, @PHENOTYPICFEATURE$ and dysgenesis of the nervous system.	false
+e29a1b7bd9224602adef49abd061fcc36fb688fa	Loss of cilia and ciliary protein causes various abnormalities (called @DISEASE$), including situs inversus, @PHENOTYPICFEATURE$ diseases, polydactyly and dysgenesis of the nervous system.	false
+372a955d042e94f5e2ffad4193466d1d2e4fed8c	Bardet-Biedl syndrome is a rare @DISEASE$ characterized by retinal dystrophy, obesity, intellectual disability, @PHENOTYPICFEATURE$, hypogonadism and renal impairment.	false
+1bf9d1b0098d38a662a65c90e547a362a41c83db	Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive @DISEASE$ characterized by progressive retinal degeneration, obesity, cognitive impairment, @PHENOTYPICFEATURE$, and kidney anomalies.	false
+46f801c9b952df593609a839f80ddf244d4ede24	Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive @DISEASE$ characterized by progressive retinal degeneration, obesity, @PHENOTYPICFEATURE$, polydactyly, and kidney anomalies.	false
+2df5bd95f263a814bd18fc1ac467b39e2c149685	@PHENOTYPICFEATURE$ and obesity - the clinical manifestation of @DISEASE$: a boy with Bardet-Biedl syndrome.	false
+a73bc1d18026b4661607188a6acbde9c1ed02cfa	Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe @DISEASE$ characterised by early lethality, occipital encephalocele, @PHENOTYPICFEATURE$, and polycystic kidney disease.	false
+2c51aece6c181e90853f8a071a8b74864e9d9ced	@PHENOTYPICFEATURE$ can be associated with @DISEASE$.	false
+2917b963d74e3a0a4099154e1f679de99450ab59	Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive @DISEASE$ that displays retinal dystrophy, obesity, @PHENOTYPICFEATURE$, cognitive impairment, urogenital anomalies and renal abnormalities as primary clinical features.	false
+10772ba35abf0388d492f3909557d745fe9d1fd7	Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive @DISEASE$ that displays retinal dystrophy, obesity, polydactyly, @PHENOTYPICFEATURE$, urogenital anomalies and renal abnormalities as primary clinical features.	false
+1d2cf7786d641e65695cb36015799ac2fee25dd9	Extra renal malformations, including encephalocele, @PHENOTYPICFEATURE$ and heart malformations, consistent with @DISEASE$ phenotypes, were frequently detected.	false
+e25597c244cf0d0d9ad500b5007e0d088912d503	Short-rib @PHENOTYPICFEATURE$ syndrome type III is an autosomal recessive lethal skeletal @DISEASE$, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy.	false
+1ba46a266280606f161c23ec5eeb94e0ac7754d9	@DISEASE$: atopic dermatitis, low birth weight dwarfism and @PHENOTYPICFEATURE$.	false
+46b8edd5549586f061e727e73aea8140db62c8ca	Two own cases of @DISEASE$ in two sisters are described, one of them with @PHENOTYPICFEATURE$ and neuroblastoma, the other one with complete Ig A deficiency and malignant lymphoma.	false
+0e36cf2dddf9d30470107d31246ad5bb7c57a55e	@DISEASE$ is a rare, autosomal recessive disorder characterized by intrauterine growth retardation, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, and psychomotoric retardation.	false
+b51e74e0f49b113a046d9be3cc2dcd726178c082	Autosomal recessive inheritance, intrauterine growth retardation, short stature, microcephaly, distinct @PHENOTYPICFEATURE$, psychomotoric retardation, and often uncharacterized eczematous skin lesions distinguish the rare @DISEASE$.	false
+cc364878e1688ab991630b4090774702f80377d8	One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, @PHENOTYPICFEATURE$, @DISEASE$, and joint laxity.	false
+a02bdb15ed6755e0331889df1e3bf91d916a03dd	We report a male patient with craniosysnostosis, bilateral radial and @DISEASE$, absent thumbs, poikiloderma, and @PHENOTYPICFEATURE$.	false
+18e272b183b7a33ed6dc5a2a1c8e77fdc8c1f5ef	Yet, limited data exist regarding surgical indications and outcomes when BAV is accompanied by left @PHENOTYPICFEATURE$, systolic dysfunction, or left ventricle non-compaction (@DISEASE$) syndrome.	false
+c7a2f1a47234e76c9498c546f13f32fddd4598eb	Heterozygous mice mimic @DISEASE$ patients by displaying high-frequency sensorineural hearing loss, @PHENOTYPICFEATURE$ hypoplasia and wrist bone abnormalities.	false
+e869a8ca6263b010e1f2954ebc8de013e2cae05b	Idiopathic @DISEASE$ followed by progressive spastic cerebral @PHENOTYPICFEATURE$.	false
+e35ba7bdf736d1891e6e59074549445b0c8e7093	A neonatal hemorrhagic stroke, caused by an aortic coarctation, caused right lower limb paresis, swallowing @PHENOTYPICFEATURE$, and @DISEASE$ in a term infant.	false
+9360e78ba3b55bfd8f6cf418783a4957f34cbb24	Partial @DISEASE$ complicating nonketotic hyperglycemic hyperosmolar @PHENOTYPICFEATURE$.	false
+5ca39a8fd5cff6adafab1ea9521bc0d7d25b021e	Hypoxic @PHENOTYPICFEATURE$ is rarely mentioned as a cause of @DISEASE$ (DI) in children.	false
+ada5210a5a78f7efcf1b7fc79bd4ec0d9075c180	A rare syndrome of @DISEASE$ with spastic @PHENOTYPICFEATURE$.	false
+bb5b87b17c50580d29ecfc1cc28fa8278dc3d1ec	Within seven days, the following symptoms developed: akinetic parkinsonian syndrome, @DISEASE$ with hypernatremia and polyuria (6 l/die), hypothyreosis, adrenal insufficiency with adynamia, sopor, hypotension and even hypophyseal @PHENOTYPICFEATURE$.	false
+822b37ae4eaa2118eda60eed8819510abc139653	A 34-year-old male presented with @DISEASE$ accompanied by upbeat nystagmus and @PHENOTYPICFEATURE$.	false
+111c07906f5531b70dd702e4982ed646e8355b8c	[@DISEASE$ complicated with upbeat nystagmus and @PHENOTYPICFEATURE$].	false
+f2b6d4e510f53149be81b536dcb47a16307e50c0	We report the case of a 21-year-old patient who was diagnosed to have @DISEASE$ at the age of 7 years and presented to us at the age of 21 years with progressive spastic @PHENOTYPICFEATURE$ that evolved over four years.	false
+7c9b63d13b1fd61b908472548ffe64e3b874dabf	The syndrome of @DISEASE$ (cDI) and @PHENOTYPICFEATURE$ cerebellar ataxia is rare with only a few reports in the literature.	false
+d3d8aefb83e47fba2b070c90c5eaad32b3df6133	The syndrome of @DISEASE$ (cDI) and spastic @PHENOTYPICFEATURE$ is rare with only a few reports in the literature.	false
+3534b0d08bb5806fb065efb2589216ad6635a5b7	@DISEASE$ (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or @PHENOTYPICFEATURE$.	false
+1ab7c5692b9d6d6f42c4cbd5cbae019581913432	The Cox proportional hazards model showed that MID was an independent variable for recurrence when adjusted for @DISEASE$, depth of @PHENOTYPICFEATURE$ invasion, severity of inflammatory reaction, and use of adjuvant radiotherapy.	false
+644db0fb286e1f954ca406a39f16c096cae536a4	Mandibuloacral dysplasia (@DISEASE$) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive osteolysis of the mandible and clavicles, cutaneous atrophy, @PHENOTYPICFEATURE$, and diabetes mellitus.	false
+c201f070e42a191d34eb7ff18fd245542750c0fe	One of these @DISEASE$ related proteins (DPC4) has been cloned as a candidate @PHENOTYPICFEATURE$ suppressor in pancreas carcinomas, suggesting a role for DPC4 in growth regulation by TGF-beta related proteins.	false
+be33ebddf744a96aebca9b8616815ce1c2113d1c	Mandibuloacral dysplasia (@DISEASE$) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, lipodystrophy, and mottled cutaneous pigmentation.	false
+6439d389c97d811b238975c205b8244edbf6c314	Parameters for vasculature (rate constant between extravascular extracellular space and blood plasma [k(ep)] and volume transfer constant [K(trans)]), extracellular space (v(e)), @PHENOTYPICFEATURE$ size (the maximal axial diameter of each included lesion [@DISEASE$]), and metabolism (glucose metabolic rates [MR(glc)]) were derived, and changes during treatment were correlated.	false
+ec385b3b4a1d940fc5146b6dfb57bea3ec2b328d	Mandibuloacral dysplasia (@DISEASE$) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, and mottled cutaneous pigmentation.	false
+0439eea2d78e4dd352e25b59f6e34bd4ac0da28c	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (@DISEASE$), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+3ccd7aaebaff6f5a997b766211bfd08fed8c6521	Mandibuloacral dysplasia (@DISEASE$) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, @PHENOTYPICFEATURE$, and mottled cutaneous pigmentation.	false
+0439eea2d78e4dd352e25b59f6e34bd4ac0da28c	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (@DISEASE$), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+4702f3dbf7364a39a5cb75bfc137e3ba7d4888d8	Mxi1 is a member of the @DISEASE$ family of proteins that functions in terminal differentiation, inhibition of cell cycle progression and @PHENOTYPICFEATURE$ suppression, while the Myc protein, which is antagonized by Mxi1, causes renal cystogenesis.	false
+12cff563369c05cf410a0717d6a363cc53ad2958	We report a cast of @DISEASE$ in a 13-year-old south Indian boy who presented with oral features, incomplete median cleft of upper lip, and @PHENOTYPICFEATURE$ of both hands and left foot.	false
+36c1373dcb0309cab7d74732b802e95fe145157c	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, @DISEASE$, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+378b83b16aa74d77424b391b957836d62bdfbcdc	The @DISEASE$ (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, @PHENOTYPICFEATURE$ and occasional mental retardation.	false
+e5613ad4834372eea9975fea76e18eddc273b26e	Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with @DISEASE$-face hypoplasia, dental anomalies, @PHENOTYPICFEATURE$, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+8c2c26cc258714aac923c9ad60ca1b7a48fb160a	Associated clinical features include a characteristic facial appearance (@DISEASE$-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, @PHENOTYPICFEATURE$, and corneal opacities.	false
+a57ce1784eb424d4b7b05073724763a28e9daccf	His main features are: @PHENOTYPICFEATURE$, head circumference in the lower normal range, @DISEASE$-facial hypoplasia, radial defects, and mental retardation.	false
+8014b0c03e16863f2dbea1f7466e02e5abca400f	The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, @PHENOTYPICFEATURE$, ear creases, nevus flammeus, and @DISEASE$-face hypoplasia.	false
+e37038000b6b67569e1fa11e802176fce1f413ed	Affected individuals exhibit @PHENOTYPICFEATURE$ caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and @DISEASE$-face hypoplasia, genu varum, and trident hand.	false
+c47fef7d8d9e34293062cb63952aa867e3923467	Here, we present a family with @DISEASE$ (MIDD), the proband of which exhibits hearing loss, diabetes mellitus, cardiomyopathy and @PHENOTYPICFEATURE$.	false
+ec90ac010b06597d1aea6db4db6c33b29305d730	We report here the case of a patient with @DISEASE$ who developed hyporeninemic @PHENOTYPICFEATURE$.	false
+18819506c3d452bd5495a7e79531e95f68810af8	Recently, mutations in copper-zinc superoxide dismutase (SOD1) have been linked to @DISEASE$ (fALS), a @PHENOTYPICFEATURE$ disease involving motor neuron loss, paralysis and death.	false
+5030cb4701398f808ef621d4d6e2a076a4e08c0f	[@DISEASE$ and glaucomatous @PHENOTYPICFEATURE$.	false
+649f9b6d325674c71e4311e683660a1d7ccb84db	@DISEASE$ following @PHENOTYPICFEATURE$ surgery in a case of anterior megalophthalmos.	false
+e3c0c3253d216598f56fa17e335822223641b6df	A 34-year-old woman with history of penetrating keratoplasty (PKP) for advanced keratoconus and subsequent @DISEASE$ (UZS) underwent phacoemulsification and hydrophilic acrylic IOL implantation for her @PHENOTYPICFEATURE$.	false
+03e0c81e0f4cc5fdcc93591e89357ccf6d48d305	Herein we describe the case of a 53-year-old male with anterior megalophthalmos who developed unilateral @DISEASE$ following @PHENOTYPICFEATURE$ surgery.	false
+bd0ff1539941ab80c2c672faa5ddbcc3b1b024e3	To report the largest cluster of @DISEASE$ (UZS), which occurred as a sequel of toxic anterior segment syndrome (TASS) after uneventful @PHENOTYPICFEATURE$ surgery, and to evaluate the possible causes and risk factors to prevent additional cases.	false
+491921f4d05dee1b0dfae68478e3f323c4a49401	Materials for studies were obtained from 150 patients with @PHENOTYPICFEATURE$: 10 with @DISEASE$, 30 with malignant and benign liver cancers, 60 with primary colorectal cancer, and 50 with metachronous colorectal cancer liver metastases.	false
+9c608c7febc1e4814e23b3f30b2bcfb2abff943d	Acute @PHENOTYPICFEATURE$ is a rare initial presenting feature of neoplastic meningitis (NM), particularly in @DISEASE$.	false
+5f8a510fe7ba74bd8bff99066b2cd559a389add1	Two human @DISEASE$, H-111 and SC-6-JCK, and one human colon cancer, Co-4, were transplanted serially into nude mice and used as @PHENOTYPICFEATURE$ with stable tumor growth.	false
+4a007d7b2dce5396d68171d8a1b675f2bea30949	While most @DISEASE$ are @PHENOTYPICFEATURE$, ~1%-3% can be attributed to inherited cancer predisposition syndromes.	false
+f4499ce87c87c10e859cfb5e0f636264e6bef0f9	Upregulation of microRNA-132 in @DISEASE$ promotes cell proliferation via @PHENOTYPICFEATURE$ 1 targeting.	false
+a00bf94bfcb3d12faa50cbd4d68e65fa4905eb05	Dietary salt intake remains much higher than recommended, @PHENOTYPICFEATURE$, cardiovascular disease and @DISEASE$.	false
+bcc6620098552ed18f86860f2ce8e9b7cb5747bc	To date, in @PHENOTYPICFEATURE$, collagenase-3 expression has been reported only in esophageal carcinoma; the presence and possible implications of this enzyme in the progression of @DISEASE$ are unknown.	false
+7d605091ee90bd1651896164c09c6e2de5aa474a	Case 2. A 50-year-old male patient who was diagnosed as having @DISEASE$ was referred to our clinic in a state of deep @PHENOTYPICFEATURE$.	false
+ac4b6b24a03492bca62327d041de888ff846a3d4	These 13 cases consisted of 2 esophagojejunal varices after total gastrectomy for @DISEASE$, 1 stoma varices after abdominoperineal excision for rectal cancer, 2 mesenteric varices with @PHENOTYPICFEATURE$, 1 gastric variceal rupture, 1 gastrorenal and gastroazygos shunt with encephalopathy, 3 giant bar-type esophageal varices, 2 isolated gastric varices with gastropericardiac shunts, and 1 isolated gastric varices with gastrophrenic shunt.	false
+036810ec9c4128b4aef36a4b4d2851aed70bdee0	These 13 cases consisted of 2 esophagojejunal varices after total gastrectomy for @DISEASE$, 1 stoma varices after abdominoperineal excision for rectal cancer, 2 mesenteric varices with encephalopathy, 1 gastric variceal rupture, 1 gastrorenal and gastroazygos shunt with @PHENOTYPICFEATURE$, 3 giant bar-type esophageal varices, 2 isolated gastric varices with gastropericardiac shunts, and 1 isolated gastric varices with gastrophrenic shunt.	false
+8a52eb8698f0bcd266f2a2efe71ddb62399d58c7	Materials for studies were obtained from 170 patients with @PHENOTYPICFEATURE$: 10 with @DISEASE$, 20 with pancreatic cancer, 30 with primary liver cancer, 60 with primary colorectal cancer and 50 with metachronic colorectal cancer liver metastases.	false
+987d4b6e30e9bc396d926d06a3ffd50e79973ff8	@PHENOTYPICFEATURE$ and idiopathic intracranial hypertension in children with @DISEASE$.	false
+587d727176eee9c4f0aae34e2c1521be4f3cb9e9	Systematic examination of four children suffering from @DISEASE$ and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, @PHENOTYPICFEATURE$, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve.	false
+14bcb73ad119ac090907ac06811a4511d194bb11	Deregulated Notch signalling leads to various diseases, such as T cell @PHENOTYPICFEATURE$, @DISEASE$ and a stroke and dementia syndrome known as CADASIL, and so strategies to therapeutically modulate Notch signalling are of interest.	false
+000eb36a756f0e6fff1ba62e08605efb619f6122	A male patient with @DISEASE$ was referred from the pediatric hepatology department for investigation of @PHENOTYPICFEATURE$ in the right eye.	false
+af8372326c0d374e6853696414c0c6870d30ce61	We found a significant correlation between vestibular symptoms, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+eb3e41715cc8469f348fe696850a1d30ef71a8ee	In children with @DISEASE$, @PHENOTYPICFEATURE$ appears to be acquired and unilateral.	false
+a4ae0a9a2ee8773cb5ef3a5c5a5484b5a89d06b4	To identify the molecular defect causing Schnyder crystalline corneal dystrophy (@DISEASE$) in a Chinese family with bilateral @PHENOTYPICFEATURE$.	false
+1ac67dba667eba95f53b019e1e355754e86d74f7	To identify the molecular defect causing @DISEASE$ (SCCD) in a Chinese family with bilateral @PHENOTYPICFEATURE$.	false
+808ce8a944399f3e426e0bce805323f04f88f04e	Twenty healthy adult controls without history of auditory or @PHENOTYPICFEATURE$ and 5 preoperative and postoperative patients with confirmed superior canal dehiscence (@DISEASE$) participated.	false
+ee88b814d929e3b3fd3056ca28dfc122cb697595	We determined a significant correlation between vestibular complaints, @PHENOTYPICFEATURE$ and @DISEASE$ but there was no correlation between mixed, sensorineural hearing loss and SCD.	false
+12420d455642fc860a77dd7174a55d6405df7525	We determined a significant correlation between vestibular complaints, conductive hearing loss and @DISEASE$ but there was no correlation between mixed, @PHENOTYPICFEATURE$ and SCD.	false
+27dab8e6415054142ae56bd105ae8bc454812b03	We determined a significant correlation between vestibular complaints, conductive hearing loss and SCD but there was no correlation between mixed, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d08feaf1d67143251f8f76e27d5437b3ce04c560	We determined a significant correlation between vestibular complaints, @PHENOTYPICFEATURE$ and SCD but there was no correlation between mixed, sensorineural hearing loss and @DISEASE$.	false
+251394948c484f53e4c0927ad841d1206a2c7607	Variability exists in opioid prescription practices after discharge in children with @DISEASE$ and @PHENOTYPICFEATURE$ episodes.	false
+679437591eeb3c4dca4343e96c4a1481db8e37bd	The systematical evaluation revealed an intimate association between acute @DISEASE$ complications, associated with @PHENOTYPICFEATURE$, and psychotic symptoms worsening.	false
+7898b7ad15dab7dcc59c4c524447410cf65b058b	Sickle cell disease (@DISEASE$) is associated with @PHENOTYPICFEATURE$ (SNHL).	false
+e43d606f84b4ccdfabc02de4ca42886f9ff157ce	We evaluated vWF profiles in children and adolescents with @DISEASE$ and sleep @PHENOTYPICFEATURE$.	false
+fdc68874c82bf385019c818918abf0ddabdf38d1	Two rank-sum outcome variables (@DISEASE$ and @PHENOTYPICFEATURE$) were then created.	false
+1c0e847a2e223492dcbdd4aa797772f82639bd0f	Corrective repair of @DISEASE$ defects and major associated @PHENOTYPICFEATURE$.	false
+cd3401b5b60e46181be77f8d747dca3cc316614f	@DISEASE$ defects (CAVC) are a common @PHENOTYPICFEATURE$, but few epidemiologic studies have evaluated non-syndromic CAVC.	false
+6c3934bb0e938392e51f421dd01e38fe13c351fb	@PHENOTYPICFEATURE$ with @DISEASE$ defect is a rare combination of defects.	false
+5a00bc9af09590bd6ed939af57ddeab40a0d0b4f	@DISEASE$ defect is a serious and complex @PHENOTYPICFEATURE$ that is frequently associated with other congenital cardiac defects.	false
+44c49e64e5357befce045084013ef3c1bac81be4	It is usually associated with other anomalies like @DISEASE$ defect, polysplenic syndrome, isolated @PHENOTYPICFEATURE$, Ellis-van Creveld syndrome, or persistent left superior vena cava.	false
+a04c782bd6ef2610280645b18b0b25de677458d8	Preoperative diagnoses included: Ebstein's anomaly of tricuspid valve (TV) in two, inlet ventricular septal defect (VSD) in association with straddling/overriding TV in two patients, pulmonary atresia-intact ventricular septum in one, tertralogy of Fallot in association with @DISEASE$ defect in one, @PHENOTYPICFEATURE$ in one and heterotaxy syndrome with VSD and anomalous systemic venous return in one.	false
+a04c782bd6ef2610280645b18b0b25de677458d8	Preoperative diagnoses included: Ebstein's anomaly of tricuspid valve (TV) in two, inlet ventricular septal defect (VSD) in association with straddling/overriding TV in two patients, pulmonary atresia-intact ventricular septum in one, tertralogy of Fallot in association with @DISEASE$ defect in one, @PHENOTYPICFEATURE$ in one and heterotaxy syndrome with VSD and anomalous systemic venous return in one.	false
+771564a982f06538fdf973d6923121abbfe540cc	Repair of @PHENOTYPICFEATURE$ and @DISEASE$ defect.	false
+38b65222fe8a3877d491d3b8633c8867bd46031e	We present our experience with five patients with @PHENOTYPICFEATURE$ and @DISEASE$ defect who underwent single ventricular palliation.	false
+70eca9bb46fbe3caf5ea05460395ffac76846ca7	Three patients had a partial anomalous pulmonary venous connection, one had a @DISEASE$ defect, and one had another major complex @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b7c216cf4ff093045fba3c644cd96b237e17577a	The etiologies of early onset nephrocalcinosis in consanguineous families include five major inherited recessive disorders: @DISEASE$ (PH), familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (FHHNC), distal renal tubular acidosis (dRTA), hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and antenatal Bartter syndrome.	false
+620c69e6b9a4abaad807dcecb2b0a7d6294a2d05	Specific problems of living kidney donation associated with certain systemic (chronic hypercalcemia due to CYP24A1 gene mutations, @DISEASE$, APRT deficiency) and renal (medullary sponge kidney, cystinuria, distal renal tubular acidosis, Dent's disease, Bartter syndrome, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis) Mendelian disorders that cause nephrolithiasis are also addressed.	false
+a6b64db25b6f7ef7a9f5c3412cc908ae67641e45	Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis, hypocitraturia, cystinuria, @DISEASE$ and renal hypouricemia.	false
+172e659c48adfefe614822a15033f36e3ceec1e5	Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (FHHNC), and @DISEASE$ (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children.	false
+29347f9d7c7db232bda5c439116f7bc66a64e7d2	Serial bone scanning was performed on a 23-year-old man with type 1 @DISEASE$, renal failure, oxalosis, and @PHENOTYPICFEATURE$.	false
+2a74402277449c7bf66eaea231ac37b34c9bd743	TBX22 mutation associated with cleft lip/palate, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+fea3092f317b130a5cc5a538ca2c19d51785ead4	On further assessment @PHENOTYPICFEATURE$, mild mental retardation, retinitis pigmentosa, polydactyly and syndactyly, obesity, micropenis, maldescended testis, @DISEASE$ and high-arched palate were noted and subsequently a diagnosis of BBS was made.	false
+a13662d76f03d449d293ba7257fbcf0e8ecdbf6b	When compared to available literature, frequently reported features like @DISEASE$, hypoglossia, microstomia, protruded maxilla and @PHENOTYPICFEATURE$ were present in our case.	false
+41f9a036d57426868ac6c7c59abc2dce24288a04	Eighteen liver biopsies and 14 liver explants from pediatric patients with extrahepatic @PHENOTYPICFEATURE$ (EHBA), Alagille syndrome (AGS), primary sclerosing cholangitis (PSC), inborn @DISEASE$ of bile acid synthesis, and progressive familial intrahepatic cholestasis (PFIC) were examined along with 5 histologically normal control liver biopsies.	false
+8e14249a26d89adcd62cc2c159f478fc5a9bdc39	Younger children with VCFS demonstrated greater @PHENOTYPICFEATURE$ than older children with VCFS or the children without VCFS, such as smaller consonant inventories, greater number of developmental @DISEASE$, greater severity of articulation disorder, and higher frequency of glottal stop use.	false
+dc8c5941ac3ca0dcd9f266b609e2c43b2ae744ce	Hydrogen could significantly reduce HALI by reducing @PHENOTYPICFEATURE$ and apoptosis, inhibiting the elevating of @DISEASE$ and increased SIRT1 expression.	false
+6d3125fbab65fcc88a530ffb1fb9c4ec1fb3639d	In children, the major causes were @PHENOTYPICFEATURE$ (40%) and inborn @DISEASE$ in metabolism (27%).	false
+0a24934bc205b9ebee668a132f38cd6e631708a5	The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn @DISEASE$ of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and @PHENOTYPICFEATURE$ variants.	false
+cd4fcf78fd8ce0989c7fd915f3cadbc11807c166	@PHENOTYPICFEATURE$ (CAH) is an autosomal recessive disorder associated with inborn @DISEASE$ of steroid metabolism.	false
+9559c8f7b5531c56656d5e851041e4cf56968438	The nasal @PHENOTYPICFEATURE$ is a rare non-neoplastic malformation or inborn @DISEASE$ of tissue development, characterized by a mix of several tissue types.	false
+d9f9b806160ef760fc68733c3b588a80a604bbe1	To determine the efficacy of rifampicin as a treatment for refractory pruritus, the medical records of 33 children (median age 25 months, range 4-135; 19 boys) with chronic cholestasis liver disease (21 with Alagille's syndrome, eight with progressive intrahepatic cholestasis, one with extrahepatic @PHENOTYPICFEATURE$, one with an inborn @DISEASE$ of bile acid metabolism, and one with cryptogenic cirrhosis) were reviewed retrospectively.	false
+34076147272bf6bf6aa85a25e28df2a15e7dce9c	[@DISEASE$ associated with @PHENOTYPICFEATURE$ and pyramidal signs].	false
+337cb9e4fa69b72908e2d13cc6e5e4c8381ad381	@DISEASE$ (MPS) is a rare X-linked disorder characterised by deafness, @PHENOTYPICFEATURE$, short stature and distinct craniofacial dysmorphisms, among other features.	false
+170e1131a514331809a6354208f6fe5c3ec67758	Patients fell into 7 phenotypic categories: neonatal-onset lactic acidosis (10%), Leigh syndrome (18%), nonspecific @PHENOTYPICFEATURE$ (32%), mitochondrial (encephalo)myopathy (19%), intermittent neurologic (5%), visceral (11%), and @DISEASE$ (5%).	false
+7ae314340edee16de6e1bd4fc3bb1775e19d47ec	The maternally inherited @DISEASE$ (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with @PHENOTYPICFEATURE$/dystonia was a high T2 signal in the putamen bilaterally.	false
+af35fcc4f93ee0a532cf7809b5671d5feb02e1d0	Mitochondrial DNA (mtDNA) genome mutations can lead to energy and respiratory-related disorders like myoclonic epilepsy with ragged red fiber disease (MERRF), mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis and stroke (MELAS) syndrome, and @DISEASE$ (LHON).	false
+d910b47116e184ad55311d8e62c4a29e8b6ce55a	However, RRF and lactic acidosis are absent in @DISEASE$ (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, @PHENOTYPICFEATURE$, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene).	false
+5e92f433ca889a897ec5b7b102b42fe75bba2ded	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and @DISEASE$ (LHON).	false
+2ba5b45cc68b11dca143bb78d7bef7a77082f8a9	In this report we present a new constellation of findings in a patient with @DISEASE$, namely, an @PHENOTYPICFEATURE$, ectopia cordis (sternal agenesis) with median abdominal raphe, and tricuspid atresia.	false
+e6a56d7d3464c1d72422662b4d0a04837ca8d315	Familial partial lipodystrophy (@DISEASE$) and @PHENOTYPICFEATURE$ are both associated with increased risks of type 2 diabetes and cardiovascular disease.	false
+43a181e6a8373c02e3223f625b650bed4c68a0ce	@DISEASE$ (FPLD) and @PHENOTYPICFEATURE$ are both associated with increased risks of type 2 diabetes and cardiovascular disease.	false
+2d33ee09145c8cb0820e0afbafdeb72a293446c5	Common @PHENOTYPICFEATURE$ and inherited lipodystrophies, rare disorders characterized by a partial (familial partial lipodystrophy; @DISEASE$) or complete (congenital generalized lipodystrophy; CGL) lack of adipose tissue, are both associated with metabolic complications such as insulin resistance and type 2 diabetes.	false
+10541fae26d330aade100b17c0be196bf791fbf1	Common @PHENOTYPICFEATURE$ and inherited lipodystrophies, rare disorders characterized by a partial (@DISEASE$; FPLD) or complete (congenital generalized lipodystrophy; CGL) lack of adipose tissue, are both associated with metabolic complications such as insulin resistance and type 2 diabetes.	false
+c69936cefe90e140696ff6761e08c9420de71519	@DISEASE$: complications of @PHENOTYPICFEATURE$ in the non-obese?	false
+20b3d7b8b95749caea48c1575b9aa13c935ca424	On the other hand, affected subjects from three @DISEASE$ pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of @PHENOTYPICFEATURE$, dilated cardiomyopathy and conduction system disturbances.	false
+45bd5f27858b4c280d1d9d58dd6fb3c559feea64	Its efficacy as hormone replacement therapy suggests broader applications in diseases also characterized by leptin abnormalities, such as @DISEASE$ (FPLD), non-alcoholic fatty liver disease (NAFLD), and common @PHENOTYPICFEATURE$.	false
+9e8bb34d81d7eced8d5910a33cc30a6c2e3708b2	Its efficacy as hormone replacement therapy suggests broader applications in diseases also characterized by leptin abnormalities, such as familial partial lipodystrophy (@DISEASE$), non-alcoholic fatty liver disease (NAFLD), and common @PHENOTYPICFEATURE$.	false
+e50797b2975dd96f32697e10cc3419dbf6890c56	Because @DISEASE$ is an extreme example of genetically disturbed adipocyte differentiation, it is possible that common variation in LMNA is associated with @PHENOTYPICFEATURE$-related phenotypes.	false
+a6df397221578f62d17b8140fa47d106b0efa5ab	Novel subtype of @DISEASE$ with @PHENOTYPICFEATURE$, sensorineural deafness and short stature of unknown genetic origin.	false
+d92389539fea37814f2d25b327605dc3b2e7e09c	Clinical symptoms and signs in our patient attributable to @DISEASE$ include muscular hypotonia, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate @PHENOTYPICFEATURE$.	false
+e42f41be5082111c5441144b091153f6bc21f55a	Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and @PHENOTYPICFEATURE$, but the risk of sudden death in @DISEASE$ is unknown.	false
+d4ff9267e33ae6107b045903cd1924f96e186db4	Primary carnitine deficiency (@DISEASE$) affects fatty acid oxidation and is associated with cardiomyopathy and @PHENOTYPICFEATURE$, but the risk of sudden death in PCD is unknown.	false
+d85813a761ab7d39c76f6b18dc7e6097ec95b076	Exposure to antibiotics containing pivalic acid was associated with encephalopathy and progression to lethal @PHENOTYPICFEATURE$ in patients suffering from @DISEASE$.	false
+de53908bfaaf48827ba9ecf3caaf4568612cb4dd	In the present study the prevalence of @DISEASE$ and the clinical presentation at TE onset, including neonatal @PHENOTYPICFEATURE$ fulminans, in a cohort of children are reported.	false
+aba2ea76759c0d3395b5a30a16d880a1fabf0406	POEMS syndrome is characterized by peripheral neuropathy (PN), a clonal plasma cell disorder (@DISEASE$), organomegaly, endocrinopathy, skin changes, @PHENOTYPICFEATURE$, sclerotic bone lesions, and thrombocytosis.	false
+bce8651fdc3629c058a815832b0d4b1e00be1a34	Although rare, @DISEASE$ should be ruled out as a cause of @PHENOTYPICFEATURE$ since oral carnitine supplementation is readily available and efficient.	false
+dab3927256fc7183ccd6e19b50e63bc9801a439f	Moreover, severely affected @DISEASE$ mice, with marked ataxia, @PHENOTYPICFEATURE$ and shortened life-span showed a significant improvement after continuous IGF-I microsphere therapy as determined by enhanced motor coordination, marked weight gain and extended survival.	false
+4b8e8aaca388a485368e8c1481d304cafd76d6a2	Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with @DISEASE$ may be a clinically recognizable syndrome with major phenotypes being mental retardation, @PHENOTYPICFEATURE$, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.	false
+9c5588b7f9e5cbcde5c1e76021236295fa3ea04e	The present findings also suggest that the normal progress of @DISEASE$ in the hand and foot plates of rodent fetuses may prevent the formation of some limb malformations such as webbing fusion of digits, polydactyly, or @PHENOTYPICFEATURE$/foot.	false
+bcf216272ad8d0ffff204768d6aa7e2f0867c298	For these reasons PCD pathways are promising targets for interventions in aging and aging-related diseases: reactivation of PCD may be beneficial in clearing cancerous and senescent cells, whereas inhibiting @DISEASE$ may help prevent @PHENOTYPICFEATURE$ and nervous system degeneration.	false
+433fbac551eacf36ab2ed4ff75b0c58c17b10753	For these reasons @DISEASE$ pathways are promising targets for interventions in aging and aging-related diseases: reactivation of PCD may be beneficial in clearing cancerous and senescent cells, whereas inhibiting PCD may help prevent @PHENOTYPICFEATURE$ and nervous system degeneration.	false
+e4353fdeaa1aba4cd8a1741f10b98bf01299997a	For these reasons PCD pathways are promising targets for interventions in aging and aging-related diseases: reactivation of @DISEASE$ may be beneficial in clearing cancerous and senescent cells, whereas inhibiting PCD may help prevent @PHENOTYPICFEATURE$ and nervous system degeneration.	false
+7f628ce4ce58e451758911d9e46d34f57b002582	Syndrome of @PHENOTYPICFEATURE$, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (@DISEASE$): report of a new case and review of the literature.	false
+12cf9e239aa64cfe655ebde8cc144e6ae7dbb041	Desbuquois dysplasia (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay.	false
+f481932c20e6afbdacab95bbaa8829fd985d3fd1	@DISEASE$ (DBQD) is a rare @PHENOTYPICFEATURE$ characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay.	false
+49d85d8c4698e59c9cae788acaa8f1781c68bec6	@DISEASE$ is a heterogeneous rare type of @PHENOTYPICFEATURE$ with a prevalence of less than 1 in 1,000,000 individuals.	false
+08d5204cb1009a2b1308e101c79e7d5f625ca00e	Three new cases of @DISEASE$ in two brothers and a sporadic male, all of whom died in early infancy, are presented to emphasize the high rate (33 %) of lethality in this variable, but serious @PHENOTYPICFEATURE$.	false
+0d92892e4ca1fb350bb985c65388b48d940a60f4	Desbuquois dysplasia (@DISEASE$) is a severe @PHENOTYPICFEATURE$ of autosomal recessive inheritance.	false
+b5e5894c4e2d8cccc470833e679586df960eb1c6	@DISEASE$ (DBQD) is a severe @PHENOTYPICFEATURE$ of autosomal recessive inheritance.	false
+a6fb21b588542bf2ecb4b430dfde9522de36118a	Key words: bilateral congenital knee dislocation, patella, @DISEASE$, siblings, @PHENOTYPICFEATURE$, case report.	false
+219f208892ef464c73edb2958f3a243c5818ad85	On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a @PHENOTYPICFEATURE$ resembling @DISEASE$.	false
+8429dda76b8f4add872c48205102b0e36ea398a0	Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a @PHENOTYPICFEATURE$ resembling @DISEASE$.	false
+7c738561478edad9d67e6acd32b8e2f25c74f56e	A case of @PHENOTYPICFEATURE$ with advanced carpal ossification and "monkey wrench" appearance of the femora: mild @DISEASE$?	false
+c99b93b629d7a97682f368b99d5614a1e1761fd9	@DISEASE$ (DD) is a recessively inherited condition characterised by short stature, generalised @PHENOTYPICFEATURE$ and advanced bone maturation.	false
+fc1763ba216eb232d5736b1b761156eed54faffa	Hence, the familial form (BS) and the sporadic form (@DISEASE$) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo @PHENOTYPICFEATURE$.	false
+10f65835f58229ea6d89ff79a3228869b7e83b4a	The XP-A (XP12BE) and @DISEASE$ (XP18BE) patients exhibited @PHENOTYPICFEATURE$ with sensorineural hearing loss.	false
+659bbfbe3ebd4d959854243a24609aba85754483	The proband had @DISEASE$ with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral @PHENOTYPICFEATURE$, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas.	false
+76b9894d61db23fc522bfc006eb9b6c88bbd636d	Comparing malaria with @DISEASE$, jaundice, nausea, @PHENOTYPICFEATURE$, and reports of fever were more prevalent in the malaria group.	false
+8d02b16bd642bf0f2891e3bd8b16718cb2a4c011	The study cohort had broad working diagnoses of complete gonadal dysgenesis (@DISEASE$) (n = 27) and partially virilized 46,XY DSD (pvDSD) (n = 25), a group that included partial @PHENOTYPICFEATURE$ and those with a broad "partial androgen insensitivity syndrome" label.	false
+9e9ffd53ce6c366c13bee916fc78ff9dda21a9ec	In this report, the estimated minimal incidence of @DISEASE$ was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, @PHENOTYPICFEATURE$ Rica, and Uruguay and the incidence of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively.	false
+6c2855f4e9d7eea407c60ec7eff5f2c16d84452e	GI involvement should be sought in patients who have @DISEASE$ with @PHENOTYPICFEATURE$, growth delay, or hypoalbuminemia.	false
+56ff14aa87804c3ff861539ab645be743f069dff	A total of 8 male patients with @DISEASE$ (ages 2-23 years) from 2 Japanese institutions underwent colonoscopy for the evaluation of their fever, diarrhea, bloody stool, and @PHENOTYPICFEATURE$.	false
+8c239fe4066c0cee8e2745c85a1a10383b296f85	Twenty-two patients with @DISEASE$ were referred to Immunology, @PHENOTYPICFEATURE$ and Allergy Research Institute (IAARI) and enrolled in this study based on defect in NADPH oxidase activity, demographic data and clinical histories.	false
+78844697979e950c86b181f9b97f75fbb495b9b0	We present 2 @DISEASE$ patients with severe Nocardia @PHENOTYPICFEATURE$ whose pulmonary status worsened despite appropriate antimicrobials, but then improved clinically and radiographically with the addition of corticosteroids.	false
+ca9ec8901338135d590850b2e08dec98b84c25f0	Clinically, patients with @DISEASE$ usually have recurrent bacterial and fungal infections causing abscess and granuloma formation in the skin, lymph nodes and visceral organs.In this report, we present a boy from Libya with a rare autosomal recessive trait of CGD (defect of p22-phox) who has chronic lung disease following multiple severe @PHENOTYPICFEATURE$ attacks.	false
+cdf659da431cad7ada02aa19faf741ce0f5f1f36	Clinically, patients with CGD usually have recurrent bacterial and fungal infections causing abscess and granuloma formation in the skin, lymph nodes and visceral organs.In this report, we present a boy from Libya with a rare autosomal recessive trait of @DISEASE$ (defect of p22-phox) who has chronic lung disease following multiple severe @PHENOTYPICFEATURE$ attacks.	false
+be50345282275952d7067264d62ebee6dae6d181	These cases demonstrate that in patients with @DISEASE$, 1) multiple episodes of Aspergillus @PHENOTYPICFEATURE$ can occur; 2) effective immunity to the organism does not develop after infection; and 3) some survivors of Aspergillus pneumonia experience only minimal morbidity.	false
+3e7b3829b5e58910cce6769bccd2bc14b8d8c427	Three had complete gonadal dysgenesis (@DISEASE$) with normal female phenotype, while the other three had partial @PHENOTYPICFEATURE$ (PGD).	false
+81f69c50d686c5601e383ec4d313de00693dc0f4	Complete gonadal dysgenesis (@DISEASE$) and @PHENOTYPICFEATURE$ (MGD) were the most common pathogenic subtypes, accounting for 48.0 and 36.0%,	false
+95e7035379e6ba3379092e8f5842d5b661166c14	@DISEASE$ with epileptic @PHENOTYPICFEATURE$.	false
+613557dcdfc0ee0c697d7c3414107e252de4676c	@DISEASE$ (HSP) is a neurological disorder characterized by a progressive spasticity and @PHENOTYPICFEATURE$ of the lower limbs.	false
+cdde2e04eb745ff34d199adbab8e62bcf50e069d	@DISEASE$ is characterized by progressive spasticity and relatively mild @PHENOTYPICFEATURE$ of the lower limbs.	false
+2019b30d6de581c9bb0c9dd3fb95419684849157	Mast syndrome (SPG21) is a childhood-onset, autosomal recessive, complicated form of @DISEASE$ (HSP) characterized by dementia, thin corpus callosum, @PHENOTYPICFEATURE$, and cerebellar and extrapyramidal signs in addition to spastic paraparesis.	false
+275bf8a5faa47027ef210086725769d13f27e5e5	Mast syndrome (SPG21) is a childhood-onset, autosomal recessive, complicated form of hereditary spastic paraplegia (@DISEASE$) characterized by dementia, thin corpus callosum, @PHENOTYPICFEATURE$, and cerebellar and extrapyramidal signs in addition to spastic paraparesis.	false
+51abe26b5498ddba90c08044e871fb35d3bf4fae	These findings suggest that the origin of urinary abnormalities in patients with @DISEASE$ may not always be due to the renal involvement of @PHENOTYPICFEATURE$.	false
+cf538928ec02b7ce2cf81ad90fd5e38655bc91fa	High frequency of SPG4 in Taiwanese families with @PHENOTYPICFEATURE$ @DISEASE$.	false
+0e6a3cf314983e380a2b4c79548afc6d10e0187b	We used a combined approach of whole-exome sequencing and candidate mutation validation to identify the disease-causing gene in a @DISEASE$ (HSP) patient with lower motor neuron involvement, mild @PHENOTYPICFEATURE$ and dysgenesis of the corpus callosum.	false
+67043151237b396ef73cc88c5c001cbff1ad5501	We used a combined approach of whole-exome sequencing and candidate mutation validation to identify the disease-causing gene in a hereditary spastic paraplegia (@DISEASE$) patient with lower motor neuron involvement, mild @PHENOTYPICFEATURE$ and dysgenesis of the corpus callosum.	false
+568840556e98c8d337d8eff58b06a7b1af064435	Herein the authors describe the case of a 10-year-old girl with @DISEASE$ who had a typical rash, seizures secondary to central nervous @PHENOTYPICFEATURE$, and gastrointestinal involvement.	false
+776e90319162e2c1cd93854ad843e2ee18bbf7ce	Mast syndrome (SPG21) is an autosomal-recessive complicated form of @DISEASE$ characterized by dementia, thin corpus callosum, @PHENOTYPICFEATURE$, and cerebellar and extrapyramidal signs in addition to spastic paraparesis.	false
+4978da198fd0de3530826d5a736347a7555a6bde	@DISEASE$ (8q24), and benign adult familial @PHENOTYPICFEATURE$ epilepsy (8q23.3-q24.1).	false
+0cf52e2ec5170f5794afe1d9bea4c6bc30a05883	@DISEASE$ and @PHENOTYPICFEATURE$ further expand the spectrum associated with selenoprotein biosynthesis deficiency.	false
+9e5896555b9b005edef7ab20cdf8e9929d2c9438	@DISEASE$ anomaly, congenital heart disease, and @PHENOTYPICFEATURE$: Goldenhar complex or Lambert syndrome?	false
+13cabb0a9f6bbfd8a4d7b6e583ffc1ac85898fc2	An @DISEASE$ syndrome with hepatic fibrosis and @PHENOTYPICFEATURE$.	false
+5ff506985c1b5512ae78400540b26f84684efcc9	Frontometaphyseal dysplasia, or Gorlin-@DISEASE$, is an X-linked disorder primarily characterized by @PHENOTYPICFEATURE$, such as hyperostosis of the skull and abnormalities of tubular bone modeling.	false
+409d01c64053d68c0762fa6d9dd8108d6483e83a	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, @DISEASE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+d8e35014665bab36f3ff76424c7e31a625267d4d	Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-@DISEASE$ with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome (DMC) but with normal intelligence and no @PHENOTYPICFEATURE$.	false
+3396d6c29195923177bdc3c4f8a642762408bda1	Spondylo-@DISEASE$ Sutcliffe type is a rare disease characterised by oval vertebral bodies, @PHENOTYPICFEATURE$ and metaphyseal irregularities.	false
+ba728b656e44817f6269e14e1f6b326a935baa04	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-@DISEASE$ associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, @PHENOTYPICFEATURE$, and limb deformities), facial dysmorphism, and intellectual disability.	false
+0dedaa30d2ecfa3c177ddefc15514ada86ae6db0	Volume overload leads to development of @DISEASE$ cardiac hypertrophy and @PHENOTYPICFEATURE$.	false
+57d583928082db69b9db4762085644e44d38109d	In addition, @PHENOTYPICFEATURE$ is associated with distinct cardiovascular hemodynamic alterations and development of @DISEASE$ myocardial hypertrophy.	false
+2ce1e343d1f8828a09bc2d54aa74da214c2c9ee9	Prevalence of @DISEASE$ hypertrophy in men increased with age, especially in the presence of hypertension and @PHENOTYPICFEATURE$.	false
+4ba6804db57403077b3dc19920a8f9ca52a7035d	The assessment of pressure-volume relationship during exercise stress echocardiography predicts left ventricular remodeling and @DISEASE$ hypertrophy in patients with @PHENOTYPICFEATURE$.	false
+3fdd6e3d853088dc105e3719672937ef8f5713cc	Ectopic expression of Cdk8 induces @DISEASE$ hypertrophy and @PHENOTYPICFEATURE$.	false
+9377d4e4bb0a0244078a75d22db4b07b2f8e0df4	The prevalence of @DISEASE$ hypertrophy in men increased with age, and with hypertension and @PHENOTYPICFEATURE$.	false
+bd0a72ea4c3c3f328faac468ddf2b7528998df1d	The @PHENOTYPICFEATURE$ was associated with @DISEASE$ myocardial hypertrophy.	false
+ca6ee2ca5794cc5f6ade22eca1577b2a9e8d1efb	To test if SB and LB dogs with CMVI and moderate @PHENOTYPICFEATURE$ have systolic dysfunction and if they have adequate @DISEASE$ hypertrophy.	false
+f1136795bc50fe575beb69a9c120ea98e72c29cf	Volume overload induces differential spatiotemporal regulation of myocardial soluble guanylyl cyclase in @DISEASE$ hypertrophy and @PHENOTYPICFEATURE$.	false
+0a1dca9bdba944215f67f1122cd733f095de0106	In women, the prevalence of @DISEASE$ hypertrophy and concentric remodelling was not related to age, hypertension or @PHENOTYPICFEATURE$.	false
+b95a918f08b6659001578f478477c087c13a074f	[Subclinical endothelial inflammation markers in a family with type I @DISEASE$ caused by a de novo @PHENOTYPICFEATURE$].	false
+d6e079ead2cd06f9bcf0b9df2607f5fad08badbe	The younger brother has celiac disease, cryptorchidism, inguinal herniae, and @PHENOTYPICFEATURE$, while the older brother has @DISEASE$, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy.	false
+9489107a5643ab7968307fa0557f190d626566cb	Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-@PHENOTYPICFEATURE$-cleft lip or palate, ankyloblepharon-ectodermal defects-cleft lip and palate, @DISEASE$, Goltz syndrome, Schopf-Schulz Passarge syndrome, and oculodentodigital dysplasia) and 41 unaffected controls.	false
+d2de3457308b956033b7eb06d698bcf32e68cc01	Letters:Structural @PHENOTYPICFEATURE$ in @DISEASE$ (HED).	false
+e0b61a0560f8275cd230fac2ffd185519891f8c0	In @DISEASE$, however, alopecia can be severe, palmarplantar @PHENOTYPICFEATURE$ is usually present, and hypo/oligodontia is not a prominent feature.	false
+aecdd0644388c99806c21c8e4c711baefe29ee97	Prominent findings included @DISEASE$ with virtually complete absence of body hair, ichthyosiform @PHENOTYPICFEATURE$ of the skin over the lower legs, dysplasia of toenails; small hands and feet with with short fifth fingers and toes complete cutaneous syndactyly between toes 4 and 5; in X-rays, fusion of several vertebral bodies, humero-radial ankylosis, fusion between talus and navicular bone, lunate and triquetral, and proximal fusion between metacarpals 4 and 5; and luxation of the right femoral head.	false
+31ce3eb87294d3093e37fc230f26142726c83145	Although melanoma has also been associated with some forms of ectodermal dysplasia, such as @PHENOTYPICFEATURE$--ectodermal dysplasia--clefting (EEC) syndrome, the incidence of melanoma in patients with @DISEASE$ is unknown.	false
+b75fc6fd65bd4adc425c21cc952d8b1534e3bf30	In this study we present a patient with @DISEASE$, who had abortive features of oculo-dento-digital dysplasia, extensive @PHENOTYPICFEATURE$ of the skin.	false
+b5fbf6395a5591319578aec0eef424b5c762cd28	Silver-Russell syndrome (@DISEASE$) is a genetically heterogeneous syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, and variable dysmorphic features.	false
+4b50c7f298b94e673ec2f15ec28b0ea68946b7db	Compared with MtF, FtM had a significantly lower @PHENOTYPICFEATURE$ age (before 12 years of age) and lower age when permission for @DISEASE$ was granted.	false
+3c25945fd289be4990dba65605750b05e60d4e5e	Post-SRS treatment results (i.e., median survival time; neurological death-free survival times; and cumulative incidence for local recurrence, repeat SRS for new lesions, @PHENOTYPICFEATURE$, and SRS-related complications) were not inferior (neither less effective nor less safe) for patients in Group B than for those in Group A. We conclude that carefully selected patients with 10 or more tumors are not unfavorable candidates for @DISEASE$ alone.	false
+23775d59419d923ce6d93c6ba51965b914604350	The 11 students were classified as having @DISEASE$. None had a critical visual deficit, and all had partial heterochromia irides and retinal @PHENOTYPICFEATURE$.	false
+f71d643b357472e39966b434aa2486238eef283b	@DISEASE$ (WS2) is a dominantly inherited disorder characterized by a @PHENOTYPICFEATURE$ and hearing impairment due to lack of melanocyte.	false
+dd4a9021a572bfb4b0f5fa91de2b085dd68df496	Mutations in MITF (microphthalmia transcription factor) cause @DISEASE$ (WS2A) in humans, an autosomal dominant disorder consisting of deafness and @PHENOTYPICFEATURE$.	false
+104b1d2e8c77c274a161b775f9fa76e59073f735	Melanocyte-specific MITF isoform (MITF-M) is of particular interest, because a heterozygous mutation in the MITF gene is associated with @DISEASE$ (WS2) that is characterized by deafness and @PHENOTYPICFEATURE$ because of lack of melanocytes in the inner ear and skin.	false
+3bae4636e6812e6ae0811f07df744dac57227060	Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate mental retardation, hypospadias and characteristic craniofacial morphology, which includes brachycephaly, facial asymmetry, exotropia, @PHENOTYPICFEATURE$/telechantus, broad nose, concave nasal ridge, underdeveloped midface, prognathism, and @DISEASE$.	false
+55dad56e57d607962fa395c92af87dfa310a81a8	@DISEASE$ and major aortopulmonary collaterals (PA/VSD/MAPCAs) is a complex form of @PHENOTYPICFEATURE$.	false
+e38175733b977aa6fc24ee95ef5e10495d65505a	kg); 14/19 patients underwent post surgical repair of tetralogy of Fallot, one patient received post surgical repair of @DISEASE$, one patient underwent post surgical repair of pulmonary atresia with intact septum, one with native left BPAS, and one was after surgical repair of aortopulmonary window and the other @PHENOTYPICFEATURE$.	false
+db761e4e7700eafde2cd946acfe84088ad81a1d2	@DISEASE$ (PA/VSD) and major aortopulmonary collateral arteries (MAPCAs) is a complex form of @PHENOTYPICFEATURE$.	false
+fb2331333d093720ab705bd331d70a8988c63ce9	@DISEASE$ and major aortopulmonary collaterals (PA/VSD/MAPCAs) is a complex and diverse form of @PHENOTYPICFEATURE$.	false
+0334edce0968b30e4746df8389597743669589b6	@DISEASE$ (PA-VSD) is a rare complex @PHENOTYPICFEATURE$.	false
+aa013f8206b98142af14b980ddcaa075e7012c3e	@DISEASE$ is an autosomal recessive condition that associates @PHENOTYPICFEATURE$ and cerebellar ataxia.	false
+efde0a8a896b5f7765a2c6ed19961f0c4959482f	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused @DISEASE$ characterized by cerebellar ataxia and @PHENOTYPICFEATURE$, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo mutation, c.796A>C (p.Asn266His) which associated multiple anomalies.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+0798df7fbeb0e79e7ca1c675e62e701e5bb346d9	One patient each had @DISEASE$, Pierre Robin syndrome, adrenogenital syndrome, @PHENOTYPICFEATURE$, and rickets.	false
+a8482820359ceddf5fb37d5fa401ed5a60cac18a	Our patient had all the major characteristic features consistent with @DISEASE$ including post-axial polydactyly, teeth and nail abnormalities, congenital heart defect and @PHENOTYPICFEATURE$.	false
+289eb44b431e5672dda8ba49d85a620333157e15	Ellis-van Creveld syndrome also known as @DISEASE$ or mesoectodermal dysplasia; a rare genetic disorder of the @PHENOTYPICFEATURE$.	false
+c2227ebe3a377d0f2ea2498543dc1d8eae284dde	@DISEASE$ also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the @PHENOTYPICFEATURE$.	false
+ffd358bb6f60d56ae325b6c8b1b9900cf66a6732	The clinical manifestations of @DISEASE$ are short-limbed dwarfism, postaxial polydactyly, fingernail dysplasia, @PHENOTYPICFEATURE$ and lips, and heart defects.	false
+7048ed5a5ff4f2d0d276d142ecad8854f7cbd9c5	@DISEASE$ (EVC), a very rare genetic @PHENOTYPICFEATURE$, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies.	false
+e8eaf3095d8273c1324761ca1d8d2e8cd5369381	@DISEASE$ (EvC) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth.	false
+0d9c9d54146be4da14c316dd56fa763757c62707	@DISEASE$ (EvC, MIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+81522e8d9344d332b7f7ce6fc0dabf0c4f5625a1	@DISEASE$ (EVC) is a relatively rare, usually non-lethal, autosomal recessive @PHENOTYPICFEATURE$ characterized by short stature, polydactyly, cardiac and renal anomalies.	false
+2b71045d54178ceabf410ecf6a1c99af9a789a0b	Ellis-van Creveld syndrome (EvC, @DISEASE$; OMIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ with associated multisystem involvement.	false
+cb748f986b72704aedd9c72a0926cb2ba3a4bb93	@DISEASE$ (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive @PHENOTYPICFEATURE$ with associated multisystem involvement.	false
+97a6ac9149a9a189cac88ad845851e28e08ac0a7	@DISEASE$ (EvC) is an autosomal recessive @PHENOTYPICFEATURE$.	false
+8078fc5a80bce105c3f9ab3af9cd01c78e3d494b	Neonates undergoing operative repair of congenital diaphragmatic hernia and @DISEASE$ develop intraoperative @PHENOTYPICFEATURE$ and hypercapnia, regardless of the approach used.	false
+b3fc2a79cc06c22934cd70fac74328f96a0efa0e	Most masses are mature teratomas, @DISEASE$, and stromal @PHENOTYPICFEATURE$.	false
+21a0f7d2ccff0a3c5ba5afed26b87c9bbc94862e	Intracranial @DISEASE$ are relatively rare @PHENOTYPICFEATURE$.	false
+c466c5700291ff1d0d795db08a45ca2a8f86b182	Dynamic changes of CS can be related to treatment of several diseases @DISEASE$ fibrosis, Chronic @PHENOTYPICFEATURE$, Neonatal hypothyreosis, Menopause or Osteoporosis.	false
+890171a89bbe17ef4d2cae487bfe74f054c2b9aa	Intracranial epidermoid cysts are uncommon benign @PHENOTYPICFEATURE$ of developmental origin; malignant transformation of benign @DISEASE$ is rare, and their prognosis remains poor.	false
+9cfb8408f5c8bc151d455cdc6a072a1009bc1274	Intracranial @DISEASE$ are uncommon benign @PHENOTYPICFEATURE$ of developmental origin; malignant transformation of benign epidermoid cysts is rare, and their prognosis remains poor.	false
+ff40585a487f4a9ce862f16e1c5f6a311651edd6	Spinal @DISEASE$ are benign @PHENOTYPICFEATURE$.	false
+151d4d23a55b5d9cc05034fe24e0fcf2e97bcb51	@DISEASE$ or @PHENOTYPICFEATURE$ are uncommon.	false
+62394e371b0cf380862f0b418495781a6ae034db	@DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+f178ba282ebf5d03f8619deb5bf8befd93ade872	@DISEASE$ of the spine are rare @PHENOTYPICFEATURE$.	false
+d35b5a6776ceb3ef8242a8cec161a55b0acb0e98	Clinicians should maintain a high index of suspicion for fourth ventricular @DISEASE$ in patients presenting with @PHENOTYPICFEATURE$ and visual disturbances.	false
+5c5d6ce3cf254bbb0a8a7096045fcfc29e0744f0	The pathology of @DISEASE$ and @PHENOTYPICFEATURE$ in the jaws.	false
+44eba0fadd4a5a8110dd0539c4029ad792adde3c	The histological diagnosis was different in each case : @DISEASE$, @PHENOTYPICFEATURE$, osteochondroma, osteoma, osteoblastoma and an aneurysmal bone cyst.	false
+3016d4c161d57a895bcd77826d15044f09abd1dc	The main differential diagnosis includes hypertrophic @PHENOTYPICFEATURE$, dermatofibroma (fibrous histiocytoma), pilar leiomyoma, @DISEASE$, adult myofibromatosis, extra-abdominal fibromatosis and plaque-stage dermatofibrosarcoma protuberans.	false
+14f19a919037bc27e0c7e51ff38fd21af9259910	Differential diagnoses include congenital causes such as teratoma or @PHENOTYPICFEATURE$, neurological causes such as neurilemoma or @DISEASE$ or other malignancies such as lymphoma or sarcoma.	false
+6354617ebb54fdebab5639dc6b44db47f0113f32	A cervical @PHENOTYPICFEATURE$, confirmed at surgery, presented on plain spine films as a focal enlargement of the intervertebral foramen and mimicked the characteristic appearance of cervical @DISEASE$.	false
+29d3cf1ae7a780c09dd9406db506660767eb0d10	Multiple caf?-au-lait spots and @DISEASE$ was found on her skin,and she was diagnosed with neurofibromatosis type 1. Ultrasound examination demonstrated bladder wall thickening,and cystoscopy revealed an irregular and @PHENOTYPICFEATURE$ mucosa.	false
+dfd2687e01cb82199bfb35dca06ff0050d0313f7	The differential diagnosis for this lesion included myxoid @DISEASE$, schwannoma, soft tissue perineurioma, low-grade @PHENOTYPICFEATURE$ and low-grade fibromyxoid sarcoma.	false
+ab26825d60e65ccd5c9950af95e53d6e8d419326	Although this CT appearance is not specific for cervical @PHENOTYPICFEATURE$, it is unusual for @DISEASE$.	false
+d4336dfaf754e1af9846a68c94e9a464f8be662e	Patients with @DISEASE$ mutations may suffer from two forms of xeroderma pigmentosum (XP): XP-F patients show mild photosensitivity and proneness to skin cancer but rarely show any @PHENOTYPICFEATURE$, whereas XFE patients display symptoms of severe XP symptoms, growth retardation and accelerated aging.	false
+4237801109f73c99e1f11af70ca73b8ece516600	A review of the 16 reported @DISEASE$ patients indicated mild skin manifestations, no @PHENOTYPICFEATURE$, and more delayed skin carcinogenesis at a lower frequency than that in XPA patients.	false
+a65adcc0d35ef95cb9d15d9c233c92063c869194	Clinicopathologic case report of a boy aged 17 with a ring melanoma of the iris with endothelial @PHENOTYPICFEATURE$ and glaucoma, with reference to the first case of the @DISEASE$ reported from the same laboratory by Rochat & Mulder in 1924.	false
+9f7e338d3e3f6b530784abb9ad63e8c812fd7dea	@DISEASE$ (PN) is an autosomal recessive genodermatosis characterized by early-onset poikiloderma, pachyonychia, @PHENOTYPICFEATURE$, bone anomalies and neutropenia, predisposing to myelodysplasia.	false
+723e1169716cdd42307ab1582c7f0e032b071fdc	@DISEASE$ (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and @PHENOTYPICFEATURE$.	false
+51c090b11fc9d57577d76ce5d509d9e0031cf5aa	However, large @PHENOTYPICFEATURE$ early in gestation may result in placentomegaly, hydrops and fetal death and a @DISEASE$-like syndrome in the mother.	false
+4719a82ead9df8c6945531b8ac6d40c4fe69b72e	However, large @PHENOTYPICFEATURE$ early in gestation may result in placentomegaly, hydrops, and fetal death and a @DISEASE$-like syndrome in the mother.	false
+3242406f519be8d3cc9a74bc236d653d749ac1b6	@DISEASE$ is associated with innate inflammatory response resulting in elevated @PHENOTYPICFEATURE$ necrosis factor-?, agonistic autoantibodies to the angiotensin II type I receptor, and activation of endothelin 1 (ET-1).	false
+830675a8300f679c998e5116bb334f79e6bab62d	The outcome of fetal SCT can be unpredictable, with some cases with slow growth during fetal life, whereas others grow rapidly, causing multiple complications; also, some of these @PHENOTYPICFEATURE$ will develop triggering fetal (preterm delivery, high-output cardiac failure, hydrops fetalis, intrauterine death) or maternal complications (distocia, placentomegaly, maternal mirror syndrome-@DISEASE$).	false
+8145ff8c3dd2cbbf33a7f081097e24c79312a488	@DISEASE$ is one of the most serious complications during pregnancy, defined as development of hypertension during late pregnancy affecting other organ systems (proteinuria, thrombocytopenia, @PHENOTYPICFEATURE$, liver involvement, cerebral symptoms or pulmonary edema).	false
+55f69e6c6f25719b003255dcd7e48ebbefd55107	In the first case, a patient with @PHENOTYPICFEATURE$ and blast lung, haemofiltration was performed at 500 ml/h over a four hour journey; in the second, a woman with severe @DISEASE$ who developed acute renal failure after caesarean section, haemofiltration was performed at 200 ml/h over a 14 hour flight.	false
+83ac832ca9e03f388da6669902cb79a4ed8641ae	We studied a young patient suffering from @DISEASE$ who presented with Horner's syndrome, peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+adede2e1367edd66f02222063374b5214dea4cbf	We describe two patients with @DISEASE$ (HES) presenting with multiple @PHENOTYPICFEATURE$ patches and plaques on the lower extremities and Raynaud's phenomenon.	false
+466af3019d3178019d816e8d5ecef79b6ef64a65	Uterine anomalies associated with congenital @DISEASE$ and @PHENOTYPICFEATURE$ represent an uncommon pathology that often presents important diagnostic problems.	false
+5ec692b49a227c90afccd19d0f7c45d4ec84a3fe	mutations can cause @DISEASE$ as part of the @PHENOTYPICFEATURE$, renal dysplasia, deafness (HDR) syndrome that includes mesangioproliferative GN.	false
+e0bb709d06b771e7500dd26623beb3aad736b668	Four patients with @DISEASE$ (PBC) and Sjogren's syndrome presented with pulmonary disease manifested by @PHENOTYPICFEATURE$, cough, and dyspnea.	false
+9e57bdaf90152572f804c4f366a87a02f520df46	A 43-year-old woman with spontaneous episodes of neuroglycopenic @PHENOTYPICFEATURE$ was found to have immune-mediated thrombocytopenic purpura and @DISEASE$.	false
+2e7e1045ed105fbedc5de8cd74dc142f5f657ede	A 60-year-old woman was admitted to our hospital in June 1985, complaining of @PHENOTYPICFEATURE$, cough and right lower chest pain, with a five-year history of asymptomatic @DISEASE$.	false
+a02d3fb8e91ac10484e630ce9bfc7a3bc12f6f79	Considering that the amount of visceral fat plays an important role in development of metabolic syndrome and cardiovascular diseases, we concluded that the lower amount of visceral fat in @DISEASE$ patients could be related to lower incidence of cardiovascular events, despite @PHENOTYPICFEATURE$.	false
+dfff3a676b83a694a582b7ad516b589806120c05	Distal tubular @PHENOTYPICFEATURE$ is the main renal complication of @DISEASE$.	false
+ba69c027a148a1dba8573025d478402db792ac57	Initially used for the treatment of acute gout, it has been utilized for a wide variety of diseases, including mediterranean familial @PHENOTYPICFEATURE$, alcoholic, posthepatitic and primary @DISEASE$.	false
+ba935c9a07235884b5421b26d260589ce6bfb213	In @DISEASE$ patients with non-specific clinical symptoms, such as vomiting, abdominal pain, ascites, weight loss, and @PHENOTYPICFEATURE$, tuberculous peritonitis must be considered in the initial differential diagnosis, although these symptoms may be attributed to cirrhosis of the liver with spontaneous bacterial peritonitis.	false
+db00454bea66df66171cc7e6f499d5d3cf0d4144	Included were cases of Schnitzler syndrome, Still disease, systemic lupus erythematosus, Sj?gren syndrome, cryopyrin-associated periodic syndrome, @DISEASE$, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, @PHENOTYPICFEATURE$, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+79a9baa27bed7fa4bf707bf286ba2ac480586510	Wiedemann-Rautenstrauch syndrome (@DISEASE$) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and @PHENOTYPICFEATURE$.	false
+3f57dfeee715638a8d81594b9558f7ef4b5d81f8	Smooth muscle @PHENOTYPICFEATURE$ (SMH) is a rare benign congenital or acquired lesion sometimes associated with @DISEASE$ (Becker's melanosis).	false
+57878bd5df33d68c09d1eec85465cf3eeea059b3	@DISEASE$ (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, @PHENOTYPICFEATURE$, and tumor predisposition phenotypes, which often overlap.	false
+6e43ddb6266c7892eaf3c60160eec78f164d9946	When germline mutations are present as in patients with @DISEASE$ (PHTS), benign and malignant neoplasias occur as well as cerebral @PHENOTYPICFEATURE$ and neurodevelopmental abnormalities.	false
+5eac4a77ab58b41f9c82dcbd84fbb38947c71558	@DISEASE$ is an autosomal dominant condition characterized by renal lesions and @PHENOTYPICFEATURE$.	false
+1525d4147f7cd721698dfe0018ffd39063616c52	Disease duration was longer and the erythrocyte sedimentation rate was higher in the @DISEASE$ patients, who also had less severe FIQ and lower @PHENOTYPICFEATURE$ visual analogue scale scores.	false
+ab42bf28374855a3732300403fffbd1ae877f954	The methadone starting dose (@DISEASE$) at referral, the maximum dose of methadone (MMD), the days of methadone treatment, the use of other nonopioid analgesics, symptoms associated with methadone therapy, pain intensity, and @PHENOTYPICFEATURE$ mechanism were recorded.	false
+c3cb5f66a9d6ca5aacf6b1eaeb5c0ebbd3b98869	The most common N/S @DISEASE$ was somatic @PHENOTYPICFEATURE$ syndrome.	false
+2e173b7653f78ff2ffa566e97698d7485ee8de9a	This condition can be linked to different comorbidities: autoimmune and inflammatory disease, hormone-related disorders, @PHENOTYPICFEATURE$ and the metabolic syndrome, as well as rare syndromes such as Bazex-Dupr?-Christol, Down's, KID, PAPASH, PASS, PASH, and SAPHO syndromes, or @DISEASE$.	false
+7dbf0496c8596ea0143deacd5640103c7da2aae3	There are several reports in the literature of the coexistence of HS with other diseases, including pyoderma gangrenosum, PASH syndrome, Adamantiades-Behcet's disease, spondylarthropathy, Crohn's disease, SAPHO, pachyonychia congenita, @DISEASE$, and the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome.	false
+31a024a30912f75bbd087a83258ff7074b7b21c0	Sporadic @DISEASE$ caused by mutant FUS/TLS: possible association of @PHENOTYPICFEATURE$ with this mutation.	false
+a89bc9f71b7f19f9e38ad7449d2e1c401cc534c6	@DISEASE$ (JALS) refers to a form of amyotrophic lateral sclerosis (ALS) in which a progressive upper and lower @PHENOTYPICFEATURE$ begins before 25 years of age.	false
+1147d09b29ed386b4956d7aa580cf8aab7e9f1db	The most striking clinical features of @DISEASE$ which appear within the first 2-3?years of life are: moderate @PHENOTYPICFEATURE$ and short stature, a waddling gait, and increasing shortness of stature with age.	false
+447e94ca612ab12b8e9bb9b8de699b036cc46b6f	We undertook a clinical trial of growth hormone (GH) therapy for patients with skeletal dysplasia accompanying @PHENOTYPICFEATURE$ caused by achondroplasia (ACH), hypochondroplasia (HCH), pseudoachondroplasia (PSACH), spondyloepiphyseal dysplasia congenita (SED), or @DISEASE$ (MD).	false
+ba0b1010153d93337c70379ccc85a63291c50665	Characterisation of @PHENOTYPICFEATURE$ in @DISEASE$: a polysomnography-based study.	false
+b0cb68387c9a0dea49ff87f43847ac189919ea9d	@PHENOTYPICFEATURE$ and autonomic dysfunction in patients with @DISEASE$.	false
+8984e3301450d8a47f32fdbe72cf258e8a5f4905	@DISEASE$ (PoTS) has been frequently associated with @PHENOTYPICFEATURE$ but objective sleep data are lacking.	false
+80112f396c53ebd9117c2d9a5b08df81bcf325a3	We report a 3-year-old girl with autosomal dominant inherited @DISEASE$ showing circumscribed hypopigmentation of the skin, heterochromia iridis, @PHENOTYPICFEATURE$, and dental aberrations.	false
+d5e10f8e51713b6893a964c27b33e261b27ad9b3	@DISEASE$ (WS1) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum.	false
+85bce7eae5a078c4e5543f0c185fd1262ec6ce15	@DISEASE$ (WS1) is an autosomal dominant genetic condition characterized by @PHENOTYPICFEATURE$ and pigment abnormalities, and is caused by variants in the PAX3 homeodomain.	false
+66206b02eeee5be274eee0a1cc798558b1e0fee1	@DISEASE$ (WS-I) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, dystopia canthorum, pigmentary disturbances, and other developmental defects.	false
+c192c587d87521dee5d714725b8f9cc11f11de1a	The second boy had also an infantile epilepsy-@PHENOTYPICFEATURE$ syndrome and the third child (a girl) had a @DISEASE$; an association of either syndromes with myocardial noncompaction has not been reported earlier.	false
+4f638358aaf68616ee4464849c608927309226b8	A 57-year-old man, previously well except for dental caries and a history of @DISEASE$, presented with marching right-sided @PHENOTYPICFEATURE$ of sudden onset.	false
+110917ffc49201b0049fbff9bcbffae9f0286dbe	Development of @DISEASE$ in a patient with Friedreich's @PHENOTYPICFEATURE$.	false
+d0fc766adfa889689081d9d6223e28ebb9c8db4a	@DISEASE$ in a child with recurrent @PHENOTYPICFEATURE$.	false
+bb9b2b8fe5653d44c0f4eced4fc877d9991478cc	Six patients had associated diseases: Ebstein's anomaly in 4, epilepsy in 1 and @PHENOTYPICFEATURE$ with scoliosis in 1. Follow-up periods ranged from 2.0 to 13.0 y (mean +/- SD: 8.0 +/- 3.3 y) for 23 first-graders with @DISEASE$ syndrome, and from 2.0 to 13.0y (mean +/- SD: 7.3 +/- 4.2y) for 34 seventh-graders, respectively.	false
+1e15dfdd052826114834700e9161ca0671d07fbb	Patients with @DISEASE$ syndrome and neurologic abnormalities consistent with MELAS syndrome, such as @PHENOTYPICFEATURE$, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+9b3102d594855cd276bd075059f5af9dee925fa0	The further examination found that the hallmark signs of this patient included progressive myoclonus epilepsy, @PHENOTYPICFEATURE$, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy and bifascicular heart block (@DISEASE$).	false
+b3e39e3e62007284495b3a21a3f158836d357071	Delayed diagnosis and treatment of affected patients can lead to corneal complications and @DISEASE$ @PHENOTYPICFEATURE$.	false
+70c3a2f912dab19107df39279dc5901035da7237	Depending on the invading organism, bacterial keratitis can progress rapidly, leading to corneal destruction and @DISEASE$ @PHENOTYPICFEATURE$.	false
+bb16e01ca97d0bf82dd008453dc08aa3f27b5230	@DISEASE$ @PHENOTYPICFEATURE$ in children of patients with hereditary bone disease.	false
+e475370cda6d90492703b83befe6a66c83851ef5	Protection of the ocular surface in patients with facial nerve injury is of paramount importance to prevent corneal injury and @DISEASE$ @PHENOTYPICFEATURE$.	false
+605653c75b9234557f43693aecbbf0d07dfeb1ed	Hemophagocytic lymphohistiocytosis (HLH) is a rare, @DISEASE$ fatal disorder characterized by @PHENOTYPICFEATURE$, pancytopenia, hepatosplenomegaly, and increased serum ferritin.	false
+3ebf69aafa5d30fe32bb4e1adac97802149f55b9	The developed magnetic scaffold fulfills the requirements of a promising biomaterial for @DISEASE$ cancer @PHENOTYPICFEATURE$ therapy.	false
+1996697a5b7a9d8c2573160c7d1471cc85fce509	for @DISEASE$ cancer @PHENOTYPICFEATURE$ therapy.	false
+6f9e552ba8cadc255ab8a2008f850876a4a1c5e6	Injection in this area is not without risk, including @DISEASE$ @PHENOTYPICFEATURE$.	false
+8336e5415da9b8b2df7a8c96d765834acfa4f5a6	To elucidate local illness concepts involving childhood @PHENOTYPICFEATURE$, cough and difficult/fast breathing and how these concepts' influence management of children with @DISEASE$ pneumonia.	false
+deabce737351c02077c8a6d33809606575ae3c62	This observational study aimed to investigate the presence of @DISEASE$ vestibular system subclinical dysfunction among migraineurs without a history of @PHENOTYPICFEATURE$ and dizziness compared with healthy controls.	false
+dbbe71c1518054154714e1b6df7549e12ecdeb38	We identified 218 patients with @DISEASE$; 139 (64%) had no history of @PHENOTYPICFEATURE$.	false
+4634f2a4d2d8e7bab29e944cf056bcea9bc1d9e4	The phenotype differences from other reported genetic abnormalities and linkage exclusion of @DISEASE$, ulnar-mammary syndrome, @PHENOTYPICFEATURE$ type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary heart-hand syndrome.	false
+002e3194bed2626336062aceda17b63bdf9c80bc	The phenotype differences from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, @PHENOTYPICFEATURE$ type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary @DISEASE$.	false
+8ea45844a3fbe18928d1449483182b751e6c4123	@DISEASE$ IV: a second family with LMNA-related cardiomyopathy and @PHENOTYPICFEATURE$.	false
+54730cbe99d7d13a5513b36e2287b738c32082b2	The most commonly described @DISEASE$ in patients with a history of @PHENOTYPICFEATURE$ and patients with new-onset seizure was a generalized tonic-clonic seizure (72 [33%]).	false
+2b825a5e2706e1060b1b0e7c334437798e4de7d4	The most commonly described @DISEASE$ in patients with a history of seizure and patients with new-onset @PHENOTYPICFEATURE$ was a generalized tonic-clonic seizure (72 [33%]).	false
+e0d8c2a7eae0b327741042020848cba80fa124c6	To describe demographic and clinical characteristics of patients with hospital-onset @PHENOTYPICFEATURE$ (@DISEASE$) and to explore current practices in their management.	false
+69ba2f94786c5c894cddae0217ccfe554b63191f	This patient presented with a @PHENOTYPICFEATURE$-like episode attributed to hypoxia during asystole from an underlying cardiac conduction defect associated with @DISEASE$.	false
+0ae8158ce846ca8a2e7799f266681cc73c387a4b	She had bilateral @PHENOTYPICFEATURE$, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in @DISEASE$.	false
+996c3e145658c3ac78ffa75cec9b9e89e9973024	This LMNA mutation segregates with a new type of @DISEASE$ in a previously reported family suffering from adult onset progressive conduction system disease, atrial and ventricular tachyarrhythmias, sudden death, dilated cardiomyopathy, and @PHENOTYPICFEATURE$ with predominant foot involvement.	false
+23b284e32ba3df0c2045830d234d8fdd9d5b9f08	Thenar hypoplasia can be an isolated defect, as in Cavanagh's syndrome, can be present with cardiac (@DISEASE$) or eye (Okihiro's syndrome) disorders, or can be associated with @PHENOTYPICFEATURE$, as in Haas's malformation.	false
+8ee96424e8689f79a7f83399cab635ca92353b2a	Microduplications of the @DISEASE$ region containing NSD1 on 5q35 have recently been proposed to cause a syndrome of @PHENOTYPICFEATURE$, short stature and developmental delay.	false
+259e29c71cb6194219b90fe3c1745a877e52ce7e	A syndrome of short stature, @PHENOTYPICFEATURE$ and speech delay is associated with duplications reciprocal to the common @DISEASE$ deletion.	false
+5932958e4a153eb25c0d25e2cd8e571045fe54e1	Subtracting the symptoms of @DISEASE$ from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, @PHENOTYPICFEATURE$ with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+b736587a29eb1c28d551df57b7d489737c2e7414	Reversed clinical phenotype due to a microduplication of @DISEASE$ region detected by array CGH: @PHENOTYPICFEATURE$, developmental delay and delayed bone age.	false
+7d01522f18cfb4bf03bcd2ea574b87839346d05c	@DISEASE$, @PHENOTYPICFEATURE$ and parotitis.	false
+ebc2bf9f8e31e1034782a11e390cda1077090710	Diseases need to be differentiated from @DISEASE$ include fragile X syndrome, arrested @PHENOTYPICFEATURE$, Canavan disease and Alexander's disease.	false
+362787ae3394b21dfa87ce445cfcde51c05e707d	@DISEASE$ is characterized by tall stature, advanced bone age, typical @PHENOTYPICFEATURE$, and developmental delay.	false
+9960eb72611190a7721d365f9f5812643106d5d4	@DISEASE$ is a rare disorder, and the diagnosis is clinical by unusual facial features and @PHENOTYPICFEATURE$.	false
+aea91146bcc566bcab912292e56a7fe5b5f42d3a	Freeman-Sheldon syndrome (also known as whistling face syndrome, @DISEASE$, cranio-carpo-tarsal dysplasia and distal arthrogryposis type 2) is a rare congenital disorder defined by facial and @PHENOTYPICFEATURE$.	false
+01d0fc73eebbda3ac1cf2f940ecc475aecc91862	@DISEASE$ (also known as whistling face syndrome, Windmill-Vane-Hand syndrome, cranio-carpo-tarsal dysplasia and distal arthrogryposis type 2) is a rare congenital disorder defined by facial and @PHENOTYPICFEATURE$.	false
+bff87c322d51cade4b2dae9487f12840defdcf77	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, @DISEASE$, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive @PHENOTYPICFEATURE$, craniofacial syndrome, and distal arthrogryposis.	false
+bded8e876b21bc4d021648b6ba2c383c8b72e46d	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as @DISEASE$ (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive @PHENOTYPICFEATURE$, craniofacial syndrome, and distal arthrogryposis.	false
+a71e383a0b7429428ab1a5153d72e3824431e377	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed @DISEASE$, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive @PHENOTYPICFEATURE$, craniofacial syndrome, and distal arthrogryposis.	false
+6d45b76323765025648efe372b2cc91e8320b1f6	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and @DISEASE$ and classified at different times as a skeletal dysplasia, nonprogressive @PHENOTYPICFEATURE$, craniofacial syndrome, and distal arthrogryposis.	false
+c0447a650871adad84d69888fadb015a5f617ed3	Trinucleotide repeats in neurologic diseases: an hypothesis concerning the pathogenesis of Huntington's disease, @DISEASE$, and spinocerebellar @PHENOTYPICFEATURE$ type I.	false
+1321efaee31afd0fb421ad52ad2422e9adbe46d5	Pathogenic repeat expansions were initially identified as causing either a loss of gene product, such as in fragile X @PHENOTYPICFEATURE$, or an expansion of a polyglutamine region of a protein, as was first shown in @DISEASE$ (Kennedy's disease).	false
+bd3c0380ae67a9dc185e88a6206d08f8088b95bc	Expansion of trinucleotide repeats has now been associated with eight inherited diseases: @DISEASE$, two fragile X syndromes, myotonic dystrophy, Huntington's disease, spinocerebellar @PHENOTYPICFEATURE$ type I, dentatorubral pallidoluysian atrophy and Machado-Joseph disease.	false
+bfaad391f8a1721b719c736e767122dfc9aaaa09	@DISEASE$ (SBMA) is characterized by adult-onset muscle weakness and lower @PHENOTYPICFEATURE$.	false
+431e18772eee16ab33b095e2515bdd2848f327d9	@PHENOTYPICFEATURE$ (SMA), amyotrophic lateral sclerosis (ALS), and @DISEASE$ (SBMA) are devastating diseases characterized by the degeneration of motor neurons.	false
+d49b7ef246d818ec3cc70eb0584f842f84356974	Data on patients with the polyQ diseases Huntington's disease (HD), @DISEASE$ (SBMA), and hereditary @PHENOTYPICFEATURE$ (HA) in Sweden were linked to the Swedish Cancer Registry.	false
+304aba923029e6c26e6ede344d9de67a886d3270	However, expansion of trinucleotide repeats is associated with a number of disorders, including Huntington disease, @DISEASE$ and spinocerebellar @PHENOTYPICFEATURE$.	false
+72f1aee99da3b7f58bf3d2603dfcd51568218cdb	To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of @PHENOTYPICFEATURE$ both FRAXA and FRAXE loci), myotonic dystrophy, @DISEASE$, Huntington's disease, spinocerebellar ataxia type I, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease.	false
+2d98325f168b04ab5b6f0243091bed69532ca888	To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of mental retardation both FRAXA and FRAXE loci), myotonic dystrophy, @DISEASE$, Huntington's disease, spinocerebellar @PHENOTYPICFEATURE$ type I, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease.	false
+38284ce93bbeee2787adcc4b5d2b5e2b94e19576	Today, disorders such as Huntington's disease, spinocerebellar ataxia type 1, fragile X @PHENOTYPICFEATURE$, @DISEASE$ and myotonic dystrophy are all known to be caused by the expansion of trinucleotides.	false
+bd82297f83c65a309aa86a20c24faa30e44a4e3a	They include Huntington's disease, @DISEASE$, dentatorubral-pallido-luysian atrophy and six types of spino-@PHENOTYPICFEATURE$.	false
+2f086dfef44eb46e500489d83d8f14c07b61e182	@DISEASE$ in a patient with bilateral @PHENOTYPICFEATURE$ nodules.	false
+acf2a373d88f26de5ea40def099540a47b06e8e8	@DISEASE$ that has received great attention is the Williams-Beuren syndrome, which courses with mental retardation, @PHENOTYPICFEATURE$, characteristic facies, and supravalvular aortic and pulmonary stenosis.	false
+fe033731bd440d1389d0cfddcad1cf5819c2b9dd	This infant illustrates the principle that holoprosencephaly and @PHENOTYPICFEATURE$ together are a symptom complex that may be part of @DISEASE$ rather than a disease in its own right.	false
+0f36fbbed01edd32a7c59894febbdc500fdcd522	@DISEASE$ angiomas associated with @PHENOTYPICFEATURE$.	false
+91aecca13db0e2809e011736f71e484367273057	Clinical abnormalities such as @PHENOTYPICFEATURE$ micromelia, increased lumbar lordosis, barrel chest, @DISEASE$ anomalies, and clumsy movements may be present.	false
+3f63777be7e52b383206e6b564d593ee6e949ebb	The boy had global developmental delay and dysmorphic @DISEASE$ features, digital and @PHENOTYPICFEATURE$.	false
+03df491cbe9ee525b12913297f9494ede9f28ca4	Congenital oculomotor nerve palsy, @PHENOTYPICFEATURE$, and @DISEASE$ capillary hemangioma.	false
+61c50ef4904219872e8d565acde475172af40833	@DISEASE$ anomalies, microphthalmia, @PHENOTYPICFEATURE$, small penis, and flexion contractures of large joints were noted.	false
+d679a432693a826cbb00e6fe4da135b8bba39a5c	@DISEASE$ anomalies, microphthalmia, cleft palate, small penis, and @PHENOTYPICFEATURE$ of large joints were noted.	false
+877d00e4e2ac3467299a486b1d0197d1a695e324	Weaver syndrome is a human overgrowth condition characterised by @PHENOTYPICFEATURE$, dysmorphic @DISEASE$ features, learning disability and variable additional features.	false
+554eeaaf20839c4db056487a67a156c9bb843838	Bilateral hemimelia with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9da645b97924cebc4886cf7f28ed4ec98ca729d8	such as developmental delay, cardiac defects, dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, hypocalcemia, and immune deficiency.	false
+3d38d320ba0bb66832088e5e6d2eb1044df2be3b	@DISEASE$ hemangioma with cerebrovascular anomalies and @PHENOTYPICFEATURE$.	false
+1c1fb69322a8f708ed718ace7af250015f617744	Associated @DISEASE$ dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, @PHENOTYPICFEATURE$, and small mandible.	false
+32eba81cb6f01ba45ed135e323add60864a13d16	@DISEASE$ (6.2%) and @PHENOTYPICFEATURE$ (5.2%).	false
+e883c53c5a56e069e57230bf6ce306b85b3e56e7	Childhood @PHENOTYPICFEATURE$ and @DISEASE$ in relation to proximity to railways.	false
+c4ff3c2159638ea3b585e797485d9d509afe9c67	Incidence of childhood @PHENOTYPICFEATURE$ and @DISEASE$ in France: National Registry of Childhood Leukaemia and Lymphoma, 1990-1999.	false
+69c2fc01df217ddb94c1d3a6490358f1d0176a7d	Incidence of childhood leukaemia and @DISEASE$ in France: National Registry of Childhood @PHENOTYPICFEATURE$ and Lymphoma, 1990-1999.	false
+29fc9e315cb9e2b6ddf399c08e19c94b7274e224	Childhood @PHENOTYPICFEATURE$ and @DISEASE$ in young people living close to nuclear reprocessing sites.	false
+5f272c72c4c6de2a85b7638a0401d161974f0f71	Skeletal manifestations of @PHENOTYPICFEATURE$, Hodgkin disease, and @DISEASE$.	false
+7a02b9438f19d8484c4dd563581ca49d961a51b9	Population mixing and childhood @PHENOTYPICFEATURE$ and @DISEASE$ in census wards in England and Wales, 1966-87.	false
+6fdcae4b182849fa29600bbf8f957e983e1e977d	The Npr2(pwe/pwe) mouse is a model for the human @PHENOTYPICFEATURE$ @DISEASE$ (AMDM).	false
+36a6733e17a3941ba785624ab7aebeebc8aa088c	Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive @PHENOTYPICFEATURE$, @DISEASE$ (AMDM).	false
+b1cc38df2f2740c4aa3c4c6ceaf8dc5ad8cbfc70	The gene mutation corresponds to that in the human @PHENOTYPICFEATURE$ @DISEASE$ (AMDM).	false
+9a9ae7ae540b060e731b620057e8c55136ab0c81	From apneic spells to the development of hypertensive @PHENOTYPICFEATURE$: a case report of @DISEASE$ with early onset.	false
+a44fb7a37f344547db9dddf3fce3e544704fcc3b	Diseases considered included myocardial infarction, ischemic heart disease, angina, @PHENOTYPICFEATURE$, cardiomyopathy, aortic aneurysm, hypertension, and @DISEASE$.	false
+fbe4bfca9d2a44104123f948130e85554fb6ebc3	In conclusion, we want to remember the necessity to perform a complete metabolic workup in a patient with clinical manifestations suggestive for @DISEASE$, and the importance of early recognition of the signs and symptoms of hypertensive @PHENOTYPICFEATURE$, a possible complication of this condition.	false
+2e06b324e0827f136f55f4a7c2b54cfbb145b098	@PHENOTYPICFEATURE$, neurologic changes, hemolysis, thrombotic microangiopathy, and low complement levels all suggested @DISEASE$.	false
+a3d06b7ae6f93a02db7a39ed49b0e06cc1cd0d4b	This leads to thrombotic microangiopathy and finally causes @PHENOTYPICFEATURE$ (@DISEASE$ [aHUS]).	false
+b0af6f066a8347da2377e787e2e940d28b8a9b08	@DISEASE$ (aHUS) has gained increased visibility over several years as an important cause of @PHENOTYPICFEATURE$.	false
+8676d3c15149b68dc1b579af0e7d3f3988a23de2	@DISEASE$ (aHUS) is characterized by endothelial damage leading to @PHENOTYPICFEATURE$ and is highly associated with abnormal alternative pathway regulation.	false
+aa2e80825e835aff1d2be68c650382f9f2dffdf0	Mutations in FH and MCP are linked to @DISEASE$, a type of thrombotic microangiopathy (TMA) that causes @PHENOTYPICFEATURE$.	false
+c83a46d32c76b4422860c37baa357902b306220c	@DISEASE$ (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and @PHENOTYPICFEATURE$.	false
+17d6bb2e69faf2b431c18951e57000c60752efc6	Anti-ssDNA and @DISEASE$ were frequently found together and both were associated with more extensive skin disease with @PHENOTYPICFEATURE$.	false
+5611efae4fabbe06ca8e0bccfd703133b56e087e	@DISEASE$ is a rare disease associated with genetic or acquired defects in complement regulation which frequently leads to @PHENOTYPICFEATURE$.	false
+bbce97fc061a07dd04ffb2a09d93cd37ba9ca849	@DISEASE$ (aHUS) is a rare disease characterized by hemolysis, thrombocytopenia, and @PHENOTYPICFEATURE$.	false
+1f35dc9b7db51999a122067db7b16a3cef3724d8	@DISEASE$ is a disease characterized by nonimmune hemolytic anemia, thrombocytopenia, and @PHENOTYPICFEATURE$.	false
+b14b92587ba496a025661735ea3752010332e41a	Siren-equipped probe alerts surgeons to @DISEASE$ @PHENOTYPICFEATURE$.	false
+c1da5dc9701a2aa75611b8df9c683d8d5816e656	Ephraim McDowell and the @DISEASE$ @PHENOTYPICFEATURE$.	false
+1db3501cee46bff23f23ed5f547814544bb11299	[@DISEASE$ @PHENOTYPICFEATURE$ and drug prescription in hospitalized patients].	false
+1a903ac62f5f8bb42a4294a1d228b8a52ddfd753	@DISEASE$ hypernephroma simulating right atrial @PHENOTYPICFEATURE$.	false
+33657d8d52304412df37f2147b6ee5291f942eec	A high rate of association between supernumerary nipples (SNNs) and @DISEASE$ @PHENOTYPICFEATURE$ has previously been reported.	false
+6d1ff23e92cdbf243a1efb3c05b86656443c5bfb	A search for the @DISEASE$ @PHENOTYPICFEATURE$ should also be part of the diagnostic investigation.	false
+11c08e1195185f714eb49e00994064303d9bf09e	Endoscopy is helpful to visualize @DISEASE$ @PHENOTYPICFEATURE$ remnants and maximize safe tumor removal.	false
+0eefc61afa1d1372308c7b546b6368d97fe78b93	Endoscopy is helpful to visualize @DISEASE$ tumor remnants and maximize safe @PHENOTYPICFEATURE$ removal.	false
+cc10a027974eb86f609797c645d7a9ed483e077d	Using the Cockcroft-Gault equation 11.2% of study population had @DISEASE$ renal failure and 12% when using MDRD, and 16.3% of patients with hidden @PHENOTYPICFEATURE$ using Cockcroft-Gault equation had coronary events.	false
+b845d568a17de58d956416531d0f2b6c13e54573	Using the Cockcroft-Gault equation 11.2% of study population had hidden @PHENOTYPICFEATURE$ and 12% when using MDRD, and 16.3% of patients with @DISEASE$ renal failure using Cockcroft-Gault equation had coronary events.	false
+7c59081044609c433a2b62b7e966e6373d501654	Using the Cockcroft-Gault equation 11.2% of study population had hidden renal failure and 12% when using MDRD, and 16.3% of patients with @DISEASE$ @PHENOTYPICFEATURE$ using Cockcroft-Gault equation had coronary events.	false
+b1b999d3372b60198c1815925304aad364afae43	Using the Cockcroft-Gault equation 11.2% of study population had @DISEASE$ @PHENOTYPICFEATURE$ and 12% when using MDRD, and 16.3% of patients with hidden renal failure using Cockcroft-Gault equation had coronary events.	false
+319f78a192b1e07c9c66472129345357477f0c49	[@DISEASE$ @PHENOTYPICFEATURE$ in diabetics with no known cardiovascular disease].	false
+095b47177a217be2923b496674bfe69a284f2e90	A deceitful stroke, a @DISEASE$ @PHENOTYPICFEATURE$.	false
+1154181470402a807377997cf6d5e4b76c2628a1	Abnormal lipid metabolism causes neurological disorders such as @DISEASE$ and contributes to @PHENOTYPICFEATURE$ formation.	false
+959fec05b614cb8f7a753f0e8c7a439c9047a004	Therefore, it is presumed that impairment of the electron flow through the respiratory chain and inhibition of (Na(+), K+)- ATPase that is crucial for synaptic function may be involved in the pathophysiology of the @PHENOTYPICFEATURE$ manifested as ataxia in @DISEASE$ and in other peroxisomal disorders in which brain Phyt accumulates.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+0dbd936412323aa53a7232bacb1f941f4934778e	[@DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+7a4ef634073bee395599feb7b18f0f8b7756781b	Rarer but reversible neurological manifestations include cerebellar ataxia, psychosis, dementia and @DISEASE$ @PHENOTYPICFEATURE$.	false
+4768cf6951700532c8933fd2000fda0a3dbd1d1f	Rarer but reversible neurological manifestations include @PHENOTYPICFEATURE$, psychosis, dementia and @DISEASE$ coma.	false
+c79d534d6421166262f087dbe34ffea256741b40	Treatment of myxedema and @DISEASE$ @PHENOTYPICFEATURE$.	false
+2e1796d780d758cecb1a593aeb9fe372ab2bd90a	Treatment of @DISEASE$ and myxedema @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+0351841045bce561986956e1750485ae3efe3657	@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of abnormalities, including @PHENOTYPICFEATURE$, velopharyngeal insufficiency, craniofacial anomalies and learning disabilities.	false
+0d50a2f4bcee490731d50d29591ab61bb1f41d29	Microdeletion of 22q11 is responsible for DiGeorge syndrome, @DISEASE$, congenital @PHENOTYPICFEATURE$, and related disorders.	false
+ad1cc8d8e30231b7266cda16f1ee27d24fee2a6a	@DISEASE$ (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	false
+1b903bde06859aa502a5d3b25cac900fb110d2c8	@DISEASE$ (VCFS) is a developmental disorder characterized by @PHENOTYPICFEATURE$, craniofacial anomalies, and learning disabilities.	false
+fbf30b35c49cd7c2c621ded24f95b2e332908af7	@DISEASE$ is a relatively common developmental disorder that is characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	false
+0d50a2f4bcee490731d50d29591ab61bb1f41d29	Microdeletion of 22q11 is responsible for DiGeorge syndrome, @DISEASE$, congenital @PHENOTYPICFEATURE$, and related disorders.	false
+39f2dca00e89bbd41b62dba3a7db6fa8bfd38fa4	We describe a family with a new disorder characterized by congenital @DISEASE$ and @PHENOTYPICFEATURE$ that results in mild rhizomelic short stature.	false
+7d77332bcc555c8bfef5aaa18ca4ae96f35a19ab	We describe a family with a new disorder characterized by congenital @DISEASE$ and spondyloepimetaphyseal dysplasia that results in mild @PHENOTYPICFEATURE$.	false
+7d6a318e4f7e4c721739be03b52412f73426b989	@DISEASE$ with @PHENOTYPICFEATURE$ in three generations: a new autosomal dominant syndrome.	false
+efa3216944ce9a798f473d8f5d72e269c8ff0859	The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse @PHENOTYPICFEATURE$, enamel dysplasia, and @DISEASE$.	false
+9772ed23db7f711a25b0407fb3614da47d146b8d	The following symptoms were still present in the boy: dys- and @DISEASE$, oligodontia, enamel and dentin hypoplasia, @PHENOTYPICFEATURE$ and uvula, concomitants strabismus (left eye), and cryptorchidism.	false
+19e0799918b6b07bf29ea301209499d2a4622ff0	ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse @PHENOTYPICFEATURE$, enamel dysplasia, and @DISEASE$.	false
+617005c183dce171cabe7d42b552c0f756f2e203	It is characterized by classical triad of @DISEASE$, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$.	false
+a7705c88cb37cf0b9b18032749a09aed47645588	Key features consist of: (i) early-onset poikiloderma, @DISEASE$ and hypohidrosis; (ii) multiple @PHENOTYPICFEATURE$, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation.	false
+c5a0076a4dfdc254f646d8b0e07398118290df88	Key features consist of: (i) early-onset poikiloderma, @DISEASE$ and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle @PHENOTYPICFEATURE$; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation.	false
+28c73386463d11cc3e26ebefdd5ffa93e1dd31fa	Less common features include @DISEASE$, @PHENOTYPICFEATURE$, and conductive deafness secondary to recurrent otitis media.	false
+0163549ef71dd482d04073032e622cc3ce0b1a27	He had a high-pitched voice, hoarseness, a characteristic bird-like facies, bilateral cataracts, generalized osteoporosis, @DISEASE$, atrophic and poikilodermic skin, @PHENOTYPICFEATURE$ of hands, feet and knees, and soft tissue calcifications.	false
+954383b6792eb8d1104b7722fc98f4c4756ba32f	Recently, many agents from @DISEASE$ have shown powerful anti-angiogenic activities against @PHENOTYPICFEATURE$.	false
+16ef8a4ccfc09307a5f9cfd74d9717195f222f09	When @DISEASE$ was given to rats bearing the BA1112 @PHENOTYPICFEATURE$, it had no protective effect on radiocurability.	false
+36b717ff9e4f5d5e61ef677563e3829b7fdb75ff	However, as compared to singleton @DISEASE$, patients having a multiple conception with CHM and coexisting fetuses were diagnosed at a later gestational age, had higher preevacuation beta-human chorionic gonadotropin levels and had a greater propensity to develop persistent @PHENOTYPICFEATURE$.	false
+9289246bb94d16b4aaffad2c9d44875407d0dfe2	However, as compared to singleton CHM, patients having a multiple conception with @DISEASE$ and coexisting fetuses were diagnosed at a later gestational age, had higher preevacuation beta-human chorionic gonadotropin levels and had a greater propensity to develop persistent @PHENOTYPICFEATURE$.	false
+232dce1fdfbb99acae191d77f25022fc4212b850	On the other hand, seven (70%) of 10 patients with @DISEASE$ showed liquefaction without any evidence of @PHENOTYPICFEATURE$ size reduction.	false
+4fd2d61328f5493579eac3945a946046d64eeac9	Proteins from control and @DISEASE$-1-treated animal @PHENOTYPICFEATURE$ specimens were analyzed by two-dimensional electrophoresis and MALDI-TOF mass spectrometry.	false
+98a4eb05464d225aa5979a5b1c4baf952bc0bccf	Together, these results suggest @DISEASE$ as a candidate @PHENOTYPICFEATURE$ suppressor gene that warrants further investigation.	false
+79613d0a7b2e845bcf1007a9825826052307c214	In contrast, very few T cells bound to @PHENOTYPICFEATURE$ vessels in @DISEASE$.	false
+bbde8a26ce8f6a14d19d11c0b1bd199b9dafbd5b	Up to 50% of patients with active acromegaly have @DISEASE$ impairment which correlates with @PHENOTYPICFEATURE$ size.	false
+58484c991c098f8e2a4e0f167e819eadfbaaa420	After oral and intravenous administration, @DISEASE$-1-P induced a dose-dependent inhibition of @PHENOTYPICFEATURE$ growth.	false
+96d5dd7e0c26a6023d2503fe6d7a975b84438dd4	CHM may significantly inhibit OS growth in mice, as assessed using the @PHENOTYPICFEATURE$ weight [20 studies, n=443; 290 for @DISEASE$ and 153 for the control: pooled mean difference (MD)=-2.90;	false
+6da4c4195baadcec21d1319165d9dfc973137e5e	@DISEASE$ may significantly inhibit OS growth in mice, as assessed using the @PHENOTYPICFEATURE$ weight [20 studies, n=443; 290 for CHM and 153 for the control: pooled mean difference (MD)=-2.90;	false
+75848a98baa3c95a4342298c5637e7d6dbd1153b	We described a white, 75-year old man with diagnosis of @DISEASE$ that in 11 years of treatment developed many cutaneous lesions: @PHENOTYPICFEATURE$, atrophic lesions on forearms, longitudinal melanonychia of 20 nails, right forearm ulcer, cutaneous xerosis, ichthyosis and auricular spinocellular carcinoma.	false
+123d70640bcad95300bed8b2cb577fb1e19b3109	Considering that both @DISEASE$ and interferon have possible influences on vascular occlusion and optic disc @PHENOTYPICFEATURE$, we stopped interferon treatment and immediately attempted to treat the polycythemia vera empirically with pentoxifylline and any interferon-associated inflammation with prednisone.	false
+1ccdd38ef6471e2b163c7099caa6d8bfe760408b	The patient was admitted to the hospital with cutaneous @PHENOTYPICFEATURE$ and progressive renal failure after having received 700 mg of ranimustine over a 29 month period as therapy for the @DISEASE$.	false
+8d94e5238396ce6ad417d0fa79acbd07502fc8de	@DISEASE$ is a neurologic disorder characterized by orthostatic hypotension, Parkinsonian signs, and @PHENOTYPICFEATURE$.	false
+f92f5782994d9571b194622d47d47f2aa2b7b528	Systolic blood pressure, mean R-R interval, and R-R interval variance were studied in patients with Parkinson's disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1d55dfd568f96c7b120722d6142e3a1ea7587788	@DISEASE$ (MSA) is an atypical parkinsonian disorder characterized clinically by the development of parkinsonism, autonomic dysfunction, corticospinal degeneration, and @PHENOTYPICFEATURE$.	false
+2ea7e86c50f8ab0a10169fe363228c8a2a43da01	@DISEASE$ (MSA) is a sporadic adult-onset neurodegenerative disorder of unknown etiology clinically characterized by a combination of parkinsonian, pyramidal, and @PHENOTYPICFEATURE$.	false
+59fbad94d3ff356dca61f2c9f00daafb17b3e881	The mean loge coefficient of variation of 100 R-R intervals was significantly reduced in groups with Parkinson's disease, @PHENOTYPICFEATURE$, @DISEASE$ and diabetes mellitus, compared with a normal control group.	false
+5e5c81c0f0c1785fdfd00f5b38dd4895fbc22562	@DISEASE$ (MSA) is a neurodegenerative disorder characterized by dysautonomia in combination with parkinsonian and @PHENOTYPICFEATURE$.	false
+ccfb3485341a1ce036bbcbd6259058d4eefb7c74	The patients' diagnoses included amyotrophic lateral sclerosis, @DISEASE$, @PHENOTYPICFEATURE$, corticobasal syndrome, Parkinson's disease, and Huntington's disease.	false
+6a1ed45b2d3cefd1c1b2601eec79d2a6ef0d26aa	@DISEASE$ (MSA) is a sporadic neurodegenerative disease clinically characterized by @PHENOTYPICFEATURE$, parkinsonism, and autonomic dysfunction.	false
+af3c43346d34d4ef3ef3e8bf848384c55e6d0fcb	In the @DISEASE$ group, eight patients had mainly @PHENOTYPICFEATURE$, seven extrapyramidal and 15 had combinations of cerebellar and extrapyramidal signs.	false
+4b3239bd69f3a23c7a544c8902f9235598609b04	Among spinocerebellar degeneration, syndromes categorized as @DISEASE$ (MSA) are commonly associated with @PHENOTYPICFEATURE$, and urinary disturbances change with the disease progression.	false
+07874362d52855a619a4e77991b8437e1f462d2f	The most common PNS are Lambert-Eaton myasthenic syndrome (LEMS), subacute @PHENOTYPICFEATURE$, limbic encephalitis (LE), opsoclonus-myoclonus (OM), retinopathies (@DISEASE$ (CAR) and melanoma-associated retinopathy (MAR), Stiff-Person syndrome (SPS), chronic gastrointestinal pseudoobstruction (CGP), sensory neuronopathy (SSN), encephalomyelitis (EM) and dermatomyositis.	false
+2d3d6860381ffac2d9811d59b977206355e10e34	Antiepileptic drug-induced exacerbation of @PHENOTYPICFEATURE$ is a common, often unrecognized clinical problem, which can be avoided by a @DISEASE$ diagnosis and by using broad spectrum antiepileptic drugs.	false
+b9f8c5c8685c4008f539c8d2cc4ef5c40e3733ab	Since a concurrence of @DISEASE$ and malignant @PHENOTYPICFEATURE$ could not be ruled out, an excision of both lesions and the adjacent plantar aponeurosis was made for biopsy examination.	false
+a96611ad0e5cec142879f543a537d88e31c55323	In the future, however, it may be possible to stimulate or inhibit the activity of lipoprotein lipase in specific tissues and to alter metabolic processes so as to improve the quality and length of life in patients with metabolic diseases such as hypertriglyceridemia, @DISEASE$ deficiency, and @PHENOTYPICFEATURE$.	false
+5b0c40db55573dd2407deadfa6f25def71e6c59d	Marked hyper-@DISEASE$-cholesterolemia associated with premature @PHENOTYPICFEATURE$.	false
+731588d7ae8e77ab6c9e9b142103a7acc9fd8177	An X;17 translocation breakpoint was characterised in a 5-year-old female with hypomelanosis of Ito (HI) who exhibits characteristic @PHENOTYPICFEATURE$ lesions, psychomotor retardation, and @DISEASE$.	false
+209fc19a454c790ccadbd57e82a76cb391e2600f	Deletions in mentally retarded patients without @PHENOTYPICFEATURE$ and in normal individuals ()" and the diagnosis of coexisting @DISEASE$ in a patient with 16p11.2	false
+764a5e7ebd3b78b697a50234b2163b33cb1b2553	We report a patient with mixed connective tissue disease (@DISEASE$) who suddenly developed pulmonary distress with bilateral @PHENOTYPICFEATURE$.	false
+2db874d93d7913acb7b87e2eedc7b917cda076d9	The @DISEASE$ patients had @PHENOTYPICFEATURE$ more often than did those with SLE and scleroderma, but had less skin ulceration, serositis, nephritis, central nervous system disease and hypocomplementemia than the SLE patients.	false
+4f6ce80ecead4d8da5e633d6dced3214011fabea	@DISEASE$ (NPS) is a @PHENOTYPICFEATURE$ with patellofemoral dysfunction as a key symptom.	false
+a4578d9ac7f8a2de08333738f8d582a894c16b34	We focus on two common @PHENOTYPICFEATURE$ (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (Darier disease and @DISEASE$), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus).	false
+41e699b54852daf364118d99fcf9a851998db518	Brown @PHENOTYPICFEATURE$ diagnosed three years after parathyroidectomy in a patient with @DISEASE$: A case report.	false
+936301fd82532c30f16738f1b0241de252098556	We and others have shown that a @PHENOTYPICFEATURE$, @DISEASE$ (NPS), results from mutations in LMX1B.	false
+cff9038b1522efa930f6079ecc0dc2c46d0c4ecb	Major indications of video-assisted sympathectomy (VAT) include @PHENOTYPICFEATURE$, Raynaud's disease, causalgia, and @DISEASE$.	false
+39d67300b0f7f3db7edacad0b7fc9842a6838ac2	Complications included 1 case of deep vein thrombosis, 2 cases of scrotal @PHENOTYPICFEATURE$, 5 cases of hemarthrosis, and 2 cases of @DISEASE$.	false
+c78b063135b54fda6610099bad1723c2f2303461	Severe complications of @DISEASE$: infection, ulcers, chronic @PHENOTYPICFEATURE$, dystonia, and myoclonus.	false
+568869a6f37d93cc76669f0d59f8b4d79837294b	Prediction of @DISEASE$ in hemiplegia by evaluation of hand @PHENOTYPICFEATURE$.	false
+489e2d7edc5d80956cf5a6eabf2f7556dd7270ce	Indications for surgery were causalgia/@DISEASE$ in nine patients, Raynaud's/vasculitis in six, hyperhidrosis in five, and medically refractory @PHENOTYPICFEATURE$ in one.	false
+a0ce357f648d60f53736f3bee1835443fbe324c2	To determine the predictive value of measurements of hand @PHENOTYPICFEATURE$ for the development of @DISEASE$ (RSD).	false
+7fe58a93ead4cc9238b8d94127444751f20222ba	Seven of the nine patients had @DISEASE$ and two had bilateral upper extremity @PHENOTYPICFEATURE$.	false
+b2329db18b2b1d889695e914bd124f26586fd353	Electrical injuries of the extremities may cause paralysis, @PHENOTYPICFEATURE$, sensory deficit, causalgia, and @DISEASE$ (RSD).	false
+448b59166bef587dda14e8a5f4119c34f58bef71	@DISEASE$: occurrence of chronic @PHENOTYPICFEATURE$ and nonimmune bullous skin lesions.	false
+9afa3804d861dd4471c95b6328e0e0c14299cddf	Of the 18 patients with @DISEASE$, 9 (50%) had @PHENOTYPICFEATURE$, while hypohidrosis was present in 2 patients (11.1%).	false
+63cf09dd5710fbfe340a05679645750a2a2faf2b	Of the 18 patients with @DISEASE$, 9 (50%) had hyperhidrosis, while @PHENOTYPICFEATURE$ was present in 2 patients (11.1%).	false
+0d8b828a158939e3685a2dfd788296d585e2f7a2	@DISEASE$, ciprofloxacin, and @PHENOTYPICFEATURE$.	false
+09fba14243b7bba57790984bc7e01e93bd577e01	Although isolated @PHENOTYPICFEATURE$ and hepatitis with hepatomegaly and deranged liver enzyme values have been reported previously in @DISEASE$, their occurrence simultaneously in the same patient in distinctly rare, having been reported only twice in the English language literature.	false
+a6bb57c04f19d2e37701656b29556bc4f2a6ed88	To investigate effects of mandibular advancement device (@DISEASE$) therapy for obstructive @PHENOTYPICFEATURE$ hypopnea syndrome (OSAHS) on the genioglossus contractile properties and fibre-type distribution.	false
+69cc4a74968fcad0757089956f581d767bfe6833	We report on a 7-year-old girl with a phenotype combining mandibuloacral dysplasia (@DISEASE$), progeria, and rigid spine @PHENOTYPICFEATURE$.	false
+468d290587a93f75fdf6ec807e7e2cdfda595887	To establish a methodology for magnetic resonance imaging (MRI) assessment in the diagnosis of @PHENOTYPICFEATURE$ using signal intensity on BLADE diffusion-weighted MRI (BLADE-DWI) and apparent diffusion coefficient (@DISEASE$) mapping.	false
+aa2cc50e2b33507315d2840c0ae3d333edee2544	MR DWI with @DISEASE$ combined with MDCT has high sensitivity, specificity, accuracy in detecting recurrent @PHENOTYPICFEATURE$.	false
+8d5905fddca5658a612cf161fc2cafadd39270cc	There was good accuracy (area under the ROC curve, 0.97) and interobserver agreement for detecting postoperative @PHENOTYPICFEATURE$ with @DISEASE$ threshold less than 1300 ? 10(-6) mm(2)/sec.	false
+b224f6a30d219192f7ee2f6b8870b73af5a99559	To evaluate the accuracy and sensitivity of diffusion-weighted magnetic resonance imaging with @DISEASE$ value combined with MDCT in evaluating recurrent @PHENOTYPICFEATURE$.	false
+3655a12ea7412cbc73d6e55f4e21f29d7f27ed26	Antitumor responses were noted in patients with brain tumors, melanoma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1dfe84eb792abb8cefb1a5f5bc4c5633f669bcd4	In patients with @DISEASE$, the incidence of @PHENOTYPICFEATURE$ varies with histology and is often unrelated to bone metastases.	false
+fb7e24edda56ececbe46914d2d3d39091559ec4c	It appears that women smokers are more aware of their increased risk for developing @DISEASE$ than their increased risk for developing heart disease or @PHENOTYPICFEATURE$.	false
+b745f8a96e98a5315ab298a360733ced6034a8cb	Relationships have been found between vitamin A and @PHENOTYPICFEATURE$, and beta-carotene and increased risk of @DISEASE$ in smoking males.	false
+29ac1c6dd38a09d370bb33ac217012c8b5d6f162	Surgical indications included @DISEASE$, breast cancer, chest wall tumors, and severe @PHENOTYPICFEATURE$.	false
+063cc0b714f178b51059f65aacd427ad9462daf8	@PHENOTYPICFEATURE$ and leukocytosis are often associated with primary @DISEASE$ as a paraneoplastic syndrome.	false
+7fa74cd2b68e7001623d6f8e7a5701f2cabcbca7	[Pineal metastatic tumor from @DISEASE$ initially caused by @PHENOTYPICFEATURE$ of pineal body tumor].	false
+31d35081f4190b5a02f625398a7e615fd4677533	@PHENOTYPICFEATURE$ (42%) and @DISEASE$ (22%) accounted for the majority of afflicted patients.	false
+a7ea780ad1a390ab0044af3a899950178ae931f6	When @DISEASE$ patients complain of @PHENOTYPICFEATURE$, it is important to consider gastrointestinal metastases in diagnosis and treatment.	false
+63ccaf0e9201405369d0fa04c06a1998291cc9e8	[A case of @DISEASE$ combined with ocular @PHENOTYPICFEATURE$ and idiopathic thrombocytopenic purpura which was presumed to be caused by heart catheterization].	false
+a37876aa0144eeee0cac8e89e893e23066f5f59e	We present the clinical features, diagnostic studies und treatment in patients with acromegaly, Paget's disease, @PHENOTYPICFEATURE$, (@DISEASE$), hypothyroidism and Graves' disease.	false
+732722dfbedb48aa2356b1d80ef2e62776f1a6bc	Ophthalmo-acromelic syndrome (@DISEASE$, OMIM %206920) is a rare autosomal recessive disease, presenting with clinical anophthalmia and @PHENOTYPICFEATURE$.	false
+b2eb3a778d5e7df05958467068e3840569e3fa11	In addition, PPP 5-HT levels were inversely correlated with @DISEASE$ scores among subjects with @PHENOTYPICFEATURE$ (r = -0.64,	false
+af23b7363845b6a9350ab89bf661093b2c2ad278	ABSTRACT Two female patients, aged 23 and 25 years-old diagnosed with Familial Mediterranean fever (@DISEASE$) were presented with @PHENOTYPICFEATURE$ and headache.	false
+6172bb5619fd3d915d80d96bb1f0138b0ebf4921	ABSTRACT Two female patients, aged 23 and 25 years-old diagnosed with @DISEASE$ (FMF) were presented with @PHENOTYPICFEATURE$ and headache.	false
+c51aab4bea75f26d0240ea6ecc4b30763d351f1e	A 30-year old man diagnosed with @DISEASE$ (FMF) 2.5 years ago presented with numbness in his left lower extremity and @PHENOTYPICFEATURE$.	false
+e1d57b9225d85d7ccde4492d71f90cb966d97661	A 30-year old man diagnosed with Familial Mediterranean fever (@DISEASE$) 2.5 years ago presented with numbness in his left lower extremity and @PHENOTYPICFEATURE$.	false
+3a41b1d10ae5318c28c2e71e3ff71516142151e5	Interestingly, both families show a clinical phenotype different from classical @DISEASE$, and in some patients the phenotype is also different from distal HMN V. Patients in the first family had marked @PHENOTYPICFEATURE$ in the lower limbs and very striking distal amyotrophy that always started in the legs.	false
+ed11646de18695057eb21a4fe12c2f2ebfc1c716	whereas 14.5% showed typical @DISEASE$ with amyotrophy of the small hand muscles and @PHENOTYPICFEATURE$ of the lower extremities.	false
+37cb061e41214544785ab044ab01876dd96a4c59	Hemihypotrophy is often associated with scoliosis, @PHENOTYPICFEATURE$, and chromosomal mosaicism and occasionally associated with the @DISEASE$.	false
+e5967faa1c90bc98a465edaedbf295bd4dbc8654	@DISEASE$ is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and @PHENOTYPICFEATURE$ in the lower limbs.	false
+4010cc7b23d95dc0168f1c5009390e220275f4cd	@DISEASE$/1F (CMT2E/1F) is a @PHENOTYPICFEATURE$ caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo.	false
+91730274746b4856c4e2def817d17ea51eab4682	Heterozygous missense mutations of transient receptor potential vanilloid 4 channel (TRPV4) cause a spectrum of skeletal disorders, including brachyolmia, @DISEASE$, metatropic dysplasia, parastremmatic dysplasia, and @PHENOTYPICFEATURE$ Maroteaux type.	false
+78f38f0ab4655020066564d2efdda46e6c07b33a	Transthyretin @DISEASE$ (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or @PHENOTYPICFEATURE$.	false
+57c3429b08f0203809006b7cd4eb84d86af759e8	The findings of this study suggest that the distribution of @DISEASE$ in South Korea is due to de novo @PHENOTYPICFEATURE$ and/or related to the other countries in East Asia.	false
+52d370eca3943a1ba4a63591a9f48186eab494c8	Here, we report on three human individuals, from two unrelated families, who presented with recurrent episodes of @DISEASE$ in early infancy and are affected by cerebellar vermis atrophy, ataxia, and @PHENOTYPICFEATURE$.	false
+aefbd401bc21b2a7c5b1bc9b663fda9150cb179e	Patients with Morquio A syndrome are at high risk of neurological complications because of their @PHENOTYPICFEATURE$; many patients are in danger of cervical myelopathy due to @DISEASE$ and ligamentous laxity leading to atlantoaxial subluxation.	false
+7e34ffd6c52f7eea8139a07cbc70c84a5d928a1f	It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, @DISEASE$, @PHENOTYPICFEATURE$, spine deformities, hepatomegaly, and restrictive lung disease.	false
+01dc613ef204af903ba19bd0cb28f2acd8150bca	@DISEASE$ (CMT1A), a demyelinating neuropathy characterised by progressive length-dependent @PHENOTYPICFEATURE$ and atrophy, is thought to affect the foot and leg first followed some time later by hand weakness and dysfunction.	false
+6625a09c8b6f72540c3f6f8853156db01e45e34c	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+24f88c2bdd21126905c063f4b7fcc71a92668890	Moreover, given its allelic association with leukoencephalopathy @DISEASE$ and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia.	false
+516adfcadc122cb70035884079b1b99724ba636b	Although clinical features overlap with findings of the original report (@DISEASE$, cleft palate, maxillary and mandibular hypoplasia, and microtia), @PHENOTYPICFEATURE$ was present in two of three patients and cognitive impairment was milder in those with head circumference proportional to height.	false
+bf8777ed80c236dc5e9584991239071d9a30b8f9	We present a case of complete bony fusion of the maxilla and mandible associated with a cleft palate, hypoglossia, micrognathia, unilateral @DISEASE$, and @PHENOTYPICFEATURE$ as a feature of oromandibular limb hypogenesis syndrome.	false
+a9b51e8436e81fb60096da826841bff8efe7fc42	Autosomal recessive primary @PHENOTYPICFEATURE$ (MCPH), @DISEASE$ disease Seckel syndrome (SCKS) and microcephalic osteodysplastic primordial dwarfism type II (MOPD-II) are often connected to mutations in centrosomal genes.	false
+13139a02d2825160e4f5a86170e8c6cb248c83af	The clinical data of one @DISEASE$ patient accompanied with @PHENOTYPICFEATURE$ who was treated in our hospital since December 2011 were retrospectively summarized.	false
+a0a29d161b0cc9df82e46846048319bd483f56f9	Purging of @DISEASE$ epithelial @PHENOTYPICFEATURE$ cells from ovarian tissue with BIS-1 is possible in vitro.	false
+5cff9e26610d51bd959369bec904145ff4f656f0	Forty-eight patients (39 males, 81.3%) had @DISEASE$; complete @PHENOTYPICFEATURE$ resection and lymphadenectomy was accomplished in all patients.	false
+89c6b74c890301cbb77e8004b632c6621a93bbf7	These findings provide a novel mechanism by which @DISEASE$ inhibits @PHENOTYPICFEATURE$ angiogenesis through modulating endothelial tip cells.	false
+57836f52545d683874fae96dd6b31360d1c4f50b	Such @PHENOTYPICFEATURE$ suppressor function of AR is lost in androgen depletion independent (@DISEASE$) prostate cancers.	false
+33c9a238e0eaa531c37917b419c533cc994a567b	Autogenous dialysis access (@DISEASE$) may improve outcome for @PHENOTYPICFEATURE$ patients.	false
+73f6ab6aa99878c63c16731682613dbd83dcdb99	The aim of this study was to investigate and describe basic features of Pan_02 murine pancreatic @DISEASE$- nocarcinoma @PHENOTYPICFEATURE$ model.	false
+f46f90f5f4ff3a7c066028ac5eba1688f5509ab4	Confusion between severe AD and @PHENOTYPICFEATURE$ may account for part of the increased risk of lymphoma in patients with @DISEASE$.	false
+ab059d35bf13770a2a114775c3d5cc16e61ad637	Confusion between severe @DISEASE$ and @PHENOTYPICFEATURE$ may account for part of the increased risk of lymphoma in patients with AD.	false
+695dd66c597b9c006198f76f56527532b842f560	To summarize our experience in the management of adipsic central diabetes insipidus(@DISEASE$) accompanied with @PHENOTYPICFEATURE$.	false
+dccb157dda00fe5c7272aa7ec7d3ecedaab4d355	Disease progression was associated with a rise and @PHENOTYPICFEATURE$ resection with a decline in lymphocyte @DISEASE$ activity.	false
+b1b971ece1f4437f9b8f08443e7e45dda2eff210	The phenotypes are not restricted to severe infantile juvenile polyposis but include childhood-onset cases with @PHENOTYPICFEATURE$, retardation, mild gastrointestinal symptoms and possibly early-onset @DISEASE$.	false
+2b437e6fbd7a447750d201a0448bafe31ca6fda0	The risk of developing @DISEASE$ (CRC) in patients with chronic @PHENOTYPICFEATURE$ (UC) is increased.	false
+f7e871f375f3f176955134880ff201b089cc05c0	Laboratory testing for KRAS (v-Ki-ras2 Kirsten rat @PHENOTYPICFEATURE$ viral oncogene homolog) mutations in metastatic @DISEASE$ (mCRC) is performed by various methods in China, but there is no standardized system for proficiency testing or assay performance evaluations.	false
+6f8f451f756513bd93e764900052e86658fb51fe	Although the risk of @DISEASE$ mirrors that in ulcerative colitis, there are no published community-based studies that exclusively assess the effects of surveillance on the early detection of cancer, and the benefits of 5-ASA compounds in treatment seem less certain than in @PHENOTYPICFEATURE$.	false
+267ed7eca58f60a439fbc9eb8f28e90c7ba5f88b	Although the risk of @DISEASE$ mirrors that in @PHENOTYPICFEATURE$, there are no published community-based studies that exclusively assess the effects of surveillance on the early detection of cancer, and the benefits of 5-ASA compounds in treatment seem less certain than in ulcerative colitis.	false
+40653d3a849d34a8daafd0a7809fe993195bdb4b	Patients with longstanding @PHENOTYPICFEATURE$ undergo regular dysplasia surveillance because they have an increased @DISEASE$ risk.	false
+b8ce3ebf62c84462c8746dade3b5764faf7afc39	Hereditary gastro-intestinal polyposis syndromes account for approximately 1% of all cases of @DISEASE$ and are associated with a broad spectrum of extra-@PHENOTYPICFEATURE$.	false
+f80bc60dbc633496ddf5dd1e83952c0718159b79	Due to the large, varied and often conflicting data reported on MTHFR, these polymorphisms have been weakly associated with multiple conditions, including autism, schizophrenia, cardiac disease, fetal @PHENOTYPICFEATURE$, poor pregnancy outcomes and @DISEASE$.	false
+2aac5f30617b311a4de49412e111d49cfd81d240	Considering all studies, the strongest evidence for a relationship between drinking water nitrate ingestion and adverse health outcomes (besides methemoglobinemia) is for @DISEASE$, thyroid disease, and @PHENOTYPICFEATURE$.	false
+37160ded7f0a281b01a3ecd84fd8fa83b8f3a994	There are association of high iron body stores with @PHENOTYPICFEATURE$, carotid atherosclerosis, myocardial infarction, liver and @DISEASE$ but minor iron deficiency may impair the physical fitness.	false
+11772067354720769d41577a68577d44c719953a	A case of a 57-year-old male being treated with FOLFOX chemotherapy for stage 3B @DISEASE$, who developed bilateral optic disc @PHENOTYPICFEATURE$ and associated left sided optic neuropathy is described.	false
+b551fb38c1e2da4e13a917e7faec68018769dfa8	A 3-year-old Arab boy with a history of @DISEASE$ was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by @PHENOTYPICFEATURE$ pigmentation and silvery-grey hair, eyebrows, and eyelashes.	false
+da157180c7415606e3310a60b33db7c5a3769ee6	Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with @PHENOTYPICFEATURE$, cleft lip without cleft palate, anencephaly, spina bifida, @DISEASE$, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6).	false
+73d23388b709f6a64e17566d564d29e6024f43ef	Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without @PHENOTYPICFEATURE$, anencephaly, spina bifida, @DISEASE$, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6).	false
+600cad0cb18b52090ecbf300cb5c877d9f222c55	Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, @PHENOTYPICFEATURE$, cleft lip with cleft palate, cleft lip without cleft palate, anencephaly, spina bifida, @DISEASE$, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6).	false
+80f1344ecf8f02820d2a8823a91c001f3a561ce2	whereas use of both opioids and NSAIDs was associated with gastroschisis, @PHENOTYPICFEATURE$, spina bifida, @DISEASE$, and pulmonary valve stenosis (aOR range, 2.0-2.9).	false
+3b77a562ebbd71a22f0685f736910a39f24b7cbd	Two infants with large left ventricular @PHENOTYPICFEATURE$ diagnosed in utero developed univentricular physiology, acting like @DISEASE$ at birth.	false
+6b61dfd83d61dc5595d55f912d596c54a43ee34b	Instrumental variable regression techniques were used to estimate the predicted probability of in-hospital mortality, @PHENOTYPICFEATURE$, and survival to 24 months of age for infants with @DISEASE$ who received a hybrid or Norwood procedure.	false
+8be984cbac81fa779db537c7f5cf10d7768e0426	Results show a direct dose-response relationship between maternal pre-pregnancy BMI and 10 defects under study (@PHENOTYPICFEATURE$ without cleft lip, diaphragmatic hernia, hydrocephalus without spina bifida, @DISEASE$, pulmonary valve atresia and stenosis, pyloric stenosis, rectal and large intestinal atresia/stenosis, transposition of great arteries, tetralogy of Fallot, and ventricular septal defects) and the 'any birth defect' category.	false
+f9a692b9a42575d101b82031613ed40aeef7e9b5	These birth defect groups were anencephaly, spina bifida, total neural tube defects, @PHENOTYPICFEATURE$, cleft lip with or without cleft palate, anomalies of the pulmonary valve, anomalies of the aortic valve, @DISEASE$, and congenital dislocation of the hip.	false
+d33a063bfbeda9e75e9fdb3daed43e705138b90a	Indications for transplantation included @DISEASE$ (63%), other complex structural anomalies (29%), myopathy (6.5%), and @PHENOTYPICFEATURE$ (1.5%).	false
+86205e762b94d8c54a4efd926f7651ed0bf87fc1	Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, @DISEASE$, @PHENOTYPICFEATURE$ without cleft lip, and esophageal atresia/tracheoesophageal fistula.	false
+2b586f301dcdca3dc5bdcba4e86da8720ccb0aec	For a child with dystonia with @PHENOTYPICFEATURE$, @DISEASE$ should be considered in the differential diagnosis.	false
+f238ab07ed226fa27b3f71f52169d333723a14d2	We examined the right temporal bone of a 17-year-old boy with recessive @DISEASE$ and a @PHENOTYPICFEATURE$ and describe the histopathologic characteristics.	false
+6943b66b8deb30eb6439afae4c5c858202a25f6a	This case points to the importance of a full evaluation of the skull base foramina in the diagnostic workup of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+d209157a710c0e989fbe647f7297a86c0def7f1f	They mostly affect pigmentation and hearing, whereas in mice, they may additionally cause @PHENOTYPICFEATURE$ and @DISEASE$.	false
+187b9e3d07c0a33cde88c5c46535bf24ba8e670d	Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, @PHENOTYPICFEATURE$, hearing loss, @DISEASE$ and mast cell defects.	false
+46aee31e77554fcf95125f6178b16ec01ee5371f	The outcome of two patients with @PHENOTYPICFEATURE$ from @DISEASE$ who underwent an optic nerve sheath fenestration (ONSF) is reported.	false
+b3b5bfb6b0684f19366f636e8c2507826dc1fd06	Pathogenesis of @DISEASE$ in mice homozygotic for @PHENOTYPICFEATURE$ (symbol mi) mutant gene has been studied.	false
+e3fa3fd0584dd056f3465e647625c742cc9686fc	We suggest that retinal degeneration may be a common finding in @DISEASE$ and a major cause of @PHENOTYPICFEATURE$.	false
+a7710099249eb550782f8883c7dc2d1df5a1d4af	Blindness and @PHENOTYPICFEATURE$ in marble-bone disease (@DISEASE$).	false
+bf7a2debcdf111619aec6441b09901a3d941b362	Blindness and @PHENOTYPICFEATURE$ in @DISEASE$ (osteopetrosis).	false
+3a7672f6f97143d39f924b87ed0976c6b7d5548f	In three of the cases, the patients required enucleation following @PHENOTYPICFEATURE$ surgery, while the fourth involved a fatal infection in a pediatric patient hospitalized for @DISEASE$.	false
+a21ee27e41c1ecb4a8fbd9e8d604a99f311ed5c7	Such changes appeared to be the pathogenesis of one form of facial nerve paralysis and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+57f95aa663a971097894b27dc1e630a7cf41f817	Severe anomalies of the forebrain together with radial @PHENOTYPICFEATURE$ have been reported in @DISEASE$, XK aprosencephaly, and partial monosomy 13q.	false
+fb991c7eca4f339a02776cec59fd45b882a2b4de	Facial @PHENOTYPICFEATURE$ or facial pressure at entry are negatively associated with outcomes and may reflect causes other than @DISEASE$.	false
+bdf7c8e2df7b8dad71e65cef9a3b651bf3b9810a	A diagnosis of @DISEASE$ is strongly suggested by a history of symptoms (eg, congestion and/or fullness; nasal obstruction, blockage, discharge, and/or purulence; discolored postnasal discharge; hyposmia/@PHENOTYPICFEATURE$; facial pain and/or pressure) and their duration for > 3 months.	false
+82f92f8c35678e842b7a387e7abfaed8de7a2072	A diagnosis of @DISEASE$ is strongly suggested by a history of symptoms (eg, congestion and/or fullness; nasal obstruction, blockage, discharge, and/or purulence; discolored postnasal discharge; hyposmia/anosmia; facial @PHENOTYPICFEATURE$ and/or pressure) and their duration for > 3 months.	false
+1c711c6bce4fed3b0868a435036b84dd1a4cacfe	Further, facial @PHENOTYPICFEATURE$ in CRS significantly correlated to quality of life and @DISEASE$-specific disease severity measures.	false
+2ad95d7b29cc4f1f4ba06152a47f810c54a85337	Further, facial @PHENOTYPICFEATURE$ in @DISEASE$ significantly correlated to quality of life and CRS-specific disease severity measures.	false
+662a397192eeeba50837dd6c56ca22e7a8f6abed	Individually, only dysosmia, dental @PHENOTYPICFEATURE$, and fatigue were predictive for @DISEASE$ (odds ratios, 1.29 [p = .032],	false
+797990eb84ab814ca055e5d658243822de72f4ab	Disease severity was judged from the duration of symptoms, level of physical disability using the Columbia Rating Scale (@DISEASE$), and the degree of @PHENOTYPICFEATURE$.	false
+0935380269430842e62d30e876bfdcef5204bae1	Nasal polyps typically present with nasal congestion, nasal obstruction, and @PHENOTYPICFEATURE$ or hyposmia, and occur more frequently in patients with persistent asthma, aspirin-exacerbated respiratory disease (AERD), @DISEASE$, and cystic fibrosis.	false
+bc8ddad3866485964e884d5a8ddd1802f9d039f8	Commonly attributed to chronic rhinosinusitis (@DISEASE$), facial @PHENOTYPICFEATURE$ is a frequent present-ing complaint in otolaryngology clinics.	false
+626efc460390aaa8f15420346f8a705721f0bfaf	In both study phases, facial @PHENOTYPICFEATURE$, but not facial pressure, was negatively predictive for @DISEASE$ (p < 0.05).	false
+092a74ae026f88033e5c4ab3d45c38617eb1b8f2	Women reported more problems with postnasal drainage (CRS overall, CRSsNP, and CRSwNP), embarrassment (@DISEASE$ overall and CRSwNP), and facial @PHENOTYPICFEATURE$ (CRSwNP).	false
+a68d6dafecf07859ecff1664a11891f238de5e68	Women reported more problems with postnasal drainage (@DISEASE$ overall, CRSsNP, and CRSwNP), embarrassment (CRS overall and CRSwNP), and facial @PHENOTYPICFEATURE$ (CRSwNP).	false
+508ba433ce63875e464b4afa8145b3146e5836d9	Neuropathic @PHENOTYPICFEATURE$ is quite frequent in CRS, and QST reveals sensory loss as a frequent abnormality in patients with @DISEASE$.	false
+ac3890118926f7edad9591584c6b92a7efda4e08	Neuropathic @PHENOTYPICFEATURE$ is quite frequent in @DISEASE$, and QST reveals sensory loss as a frequent abnormality in patients with CRS.	false
+0c43c2292be81c9e3e7691a7b740dd73b7ad984d	The motor disorders of @DISEASE$ have been ascribed to @PHENOTYPICFEATURE$, and sometimes there is ample supporting evidence of neuropathy.	false
+4545b7d56088e12531ab60eaccd4a6560151d5b8	@DISEASE$ and @PHENOTYPICFEATURE$ in a patient with Hodgkin's disease.	false
+b5cad12cca23ee47570ba46551ae8656d7498b11	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, @DISEASE$, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+97a8a93c3d3618ae2f0b6fa56541fbc6f66e1dde	[Spirochetes isolated from the blood of three cases of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+100ad8232ed8297934ba3784fc20ded71997f3f3	In both populations, @DISEASE$ is commonly associated with @PHENOTYPICFEATURE$.	false
+800794b4507aa7fcf88765a346b57bece8436ffc	Twelve patients were treated with high-dose intravenous penicillin for @PHENOTYPICFEATURE$ of @DISEASE$.	false
+0618dc5536d952d650b90f980cf81ce04e46a2bb	@PHENOTYPICFEATURE$ and ApoE deficiency result in severe infection with @DISEASE$ and relapsing-fever Borrelia.	false
+a05d43bf93774a55289ddab03b4ce507e9eb90a6	The clinical features in eight patients with @PHENOTYPICFEATURE$ typical of @DISEASE$ and elevated titers of antibody to the spirochete, Borrelia burgdorferi, its causative agent, are described.	false
+40acc2617f64b1890c71be55acae21f655a6e8d8	@PHENOTYPICFEATURE$ of @DISEASE$: successful treatment with high-dose intravenous penicillin.	false
+b6ffcf9fd15ed3d23992d6a0a9c9f34db6011f97	We aimed to gain insights into the pathogen-specific differences in early adaptive immune responses following @PHENOTYPICFEATURE$ with @DISEASE$ burgdorferi and viral pathogens by studying the immunophenotypic patterns of T-cell activation.	false
+9cbd47d0acc90c5e85aa036fbd28fe2f02f172fb	@PHENOTYPICFEATURE$ of @DISEASE$.	false
+fe1aa0bfd2ad8b8067bffb84b57779f666318ab6	Cognitive symptoms, occurring either during (encephalopathy) or after infection (posttreatment @DISEASE$ syndrome) are rarely, if ever, due to @PHENOTYPICFEATURE$.	false
+6b916b4ffce78c098bae7062f9b21059cb86623a	We conclude that high-dose intravenous penicillin is effective therapy for @PHENOTYPICFEATURE$ of @DISEASE$.	false
+4212bc0280cd8a5f471db91cbbed9bc5317d6dc5	Two female sibs aged 15 and 18 years with microcephaly, @PHENOTYPICFEATURE$ and marfanoid habitus who developed focal @DISEASE$ leading to renal failure are described.	false
+5ac312eac73e03bbaa7212e7fe0bf5a4c54432d4	Serum calcium (Ca) and inorganic phosphate (Pi) concentrations and calcium-phosphate product (CPP) levels are positively associated with worse outcomes in patients with chronic kidney disease, but there are few data for Pi or Ca and none for @DISEASE$ in patients with @PHENOTYPICFEATURE$ (CHF).	false
+bf4058294fad7269cd4c438aefa7f46e647a3c37	We describe a 7.4 year-old Brazilian girl with @DISEASE$ who also presented @PHENOTYPICFEATURE$, limitation of lateral neck rotation and synkinesis of the hands.	false
+6c36108f887c43215453fb2d5c76c7a59b2e190a	decrease in severity of @DISEASE$ and deep @PHENOTYPICFEATURE$ was observed in both groups with no difference between them.	false
+53e1d7f05a1a089572090c564828b21a1586eaf1	rate was higher in @DISEASE$ patient; @PHENOTYPICFEATURE$, bacterial infections and rheumatic diseases were the most common misdiagnoses.?Corticosteroid	false
+1bcf2548b80acabbc1a6344fce0d477aad64515c	In particular, Erythema Nodosum, Panniculitides in Sarcoidosis, Pancreatic Panniculitis, Lupus Panniculitis, Erythema Induratum/Nodular @PHENOTYPICFEATURE$ and @DISEASE$/Rothman-Makai Pannicultis will be analyzed.	false
+c8e3974033ba39b3152f7e6e949fa9baf5de4403	Surgical treatment for Brown superior oblique tendon sheath syndrome, now called @DISEASE$, has been advocated for patients with @PHENOTYPICFEATURE$ posture or manifest hypotropia in primary gaze.	false
+4af1ef0005950f7b69bba8df11ac3252af2aba0a	Surgical treatment for Brown @DISEASE$, now called Brown syndrome, has been advocated for patients with @PHENOTYPICFEATURE$ posture or manifest hypotropia in primary gaze.	false
+93c7ecbeac5f13f23db688a89bf404064c8b79a9	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and @DISEASE$.	false
+1a7d4627532373265ec35a49735a52857c90e5f7	@DISEASE$ (DI) is a hereditary condition that can cause discoloration of teeth in addition to other @PHENOTYPICFEATURE$.	false
+1755d9df34f620e9ca6982e374c463f7a574a204	We showed that duplication at 4q21.2q21.3 is associated with moderate ID, @PHENOTYPICFEATURE$, developmental delay, language impairment, memory and attention problems, facial dysmorphisms, congenital heart defect and @DISEASE$.	false
+e4aba04404d0b3a6dccffc0ed7cb1cca73a2fc06	@DISEASE$ was observed in 75% of patients with OI, and this group showed a high prevalence of @PHENOTYPICFEATURE$ in comparison with controls (P < .05).	false
+bd8e3609ffb168a941a5788fe03822cc99a6222f	The lesions included primary bone tumors (10 cases: 1 osteosarcoma, 1 periosteal sarcoma, 1 @DISEASE$, 1 chondrosarcoma, 2 non-ossifying fibromas, 1 chondroma, 1 chondromyxoid fibroma, 1 desmoplastic fibroma and 1 bone cyst), metastases (7 cases: 3 prostate, 3 breast, 1 lung-squamous cell carcinoma), infections (12 cases: 9 osteomyelitis, 3 spondylodiscitis), sacroiliitis (1 case) and posttraumatic bone bruise (2 cases of bone marrow @PHENOTYPICFEATURE$).	false
+4f142c4a83d8cedbedaec547b459004756888643	All MR images were examined with a traditional morphologic approach and, upon comparison with surgical macroslides and with pathology samples, some MR distinctive patterns were identified: the bulky appearance of osteosarcoma surrounded by muscle edema, the multilobular high signal intensity (SI) chondroid lesions, the subtle infiltration of @DISEASE$, rarely accompanied by muscle @PHENOTYPICFEATURE$ and prone to MR underestimation, the well defined "multiple shells" pattern of giant cell tumor, and the ill defined "storiform" appearance of malignant fibrous histocytoma are all typical MR features strictly corresponding to pathologic findings.	false
+7facfaf8b04be67ef54612aca87d91246dd2e277	All MR images were examined with a traditional morphologic approach and, upon comparison with surgical macroslides and with pathology samples, some MR distinctive patterns were identified: the bulky appearance of osteosarcoma surrounded by muscle @PHENOTYPICFEATURE$, the multilobular high signal intensity (SI) chondroid lesions, the subtle infiltration of @DISEASE$, rarely accompanied by muscle edema and prone to MR underestimation, the well defined "multiple shells" pattern of giant cell tumor, and the ill defined "storiform" appearance of malignant fibrous histocytoma are all typical MR features strictly corresponding to pathologic findings.	false
+c1d4552b64328f4f329d00dda9b756b8a6b9fc4c	The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, @DISEASE$ of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, @PHENOTYPICFEATURE$, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, syndactyly, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings.	false
+35e9338c515b17c650c8d8599bc83de73c55004f	Characterization of wild type and @DISEASE$ epithelial @PHENOTYPICFEATURE$ cells.	false
+5bdb59e6ebb2bcec0c1a4f56b53980e906592019	Our results show that Sca-1 null mice (Sca-1(-/-)) fed high-fat diet developed @PHENOTYPICFEATURE$ equally well as wild-type mice, suggesting either an indirect in vivo effect of Sca-1 or a compensatory response to @DISEASE$ deficiency.	false
+1ed19ac55a6d1453fe549955cc2cb40103e181a8	These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type @PHENOTYPICFEATURE$, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and @DISEASE$.	false
+a73feb74a63db4fb4e472ec450a8b04248892418	Later, dwarfism, @PHENOTYPICFEATURE$, @DISEASE$, and retinal degeneration became apparent.	false
+7377901f329eb6f19da73dc9e9adab66f54b6f44	Visual involvement in Friedreich's @PHENOTYPICFEATURE$ and hereditary @DISEASE$.	false
+de5f89bceee5c7f90e4a77804950957ddf05b275	The older girl developed @PHENOTYPICFEATURE$ first, then progressive @DISEASE$.	false
+db6a8935838ad83fc485fa0a9cb2bbf06d3898ce	Friedreich @PHENOTYPICFEATURE$ with minimal GAA expansion presenting as adult-onset @DISEASE$.	false
+c6bfe296c690fa469ce09ebd72c914b709d886bc	We have encountered three patients with a definite or presumptive diagnosis of congenital rubella, in whom a progressive neurologic illness developed that began in the second decade and was characterized by @DISEASE$, @PHENOTYPICFEATURE$, and seizures.	false
+3fd3b97a4e076b367f0e5ef39ba4f2c78c9c19c4	We have encountered three patients with a definite or presumptive diagnosis of congenital rubella, in whom a progressive neurologic illness developed that began in the second decade and was characterized by @DISEASE$, intellectual deterioration, and @PHENOTYPICFEATURE$.	false
+3cc68ef7a1e3572ddf3ccbb371a4127414af7095	By reviewing the clinical manifestations of SPG76 patients, we validated the "@DISEASE$" phenotype and emphasized the association between spasticity and @PHENOTYPICFEATURE$, indicating the importance of CAPN1 screening in HSP patients.	false
+b9abbccbd0a88fce7789b1a6f2981f95a8d10fac	By reviewing the clinical manifestations of SPG76 patients, we validated the "@DISEASE$" phenotype and emphasized the association between @PHENOTYPICFEATURE$ and ataxia, indicating the importance of CAPN1 screening in HSP patients.	false
+f154f2a0da4b8eb74836a1238df4c133a992e818	Seventeen patients with Friedreich's @PHENOTYPICFEATURE$ or @DISEASE$ were subjected to an urodynamic evaluation.	false
+5ae1505062f91d587c3b9201a427107095a44a04	Progressive limb @PHENOTYPICFEATURE$ and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure @DISEASE$ or as complex spastic ataxia with additional neurological signs.	false
+fe7d89d81e36ba35650e82d68139cf0e0099da2d	Progressive limb @PHENOTYPICFEATURE$ and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex @DISEASE$ with additional neurological signs.	false
+acd01c8cf24576c9d40ec9e4d35b4f29fb97b730	Progressive limb spasticity and @PHENOTYPICFEATURE$ are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure @DISEASE$ or as complex spastic ataxia with additional neurological signs.	false
+903690ca97ca4300f0719fca0dbf14a804da90bc	Progressive limb spasticity and @PHENOTYPICFEATURE$ are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex @DISEASE$ with additional neurological signs.	false
+f37d496c205a2f924ee4558c90696886269a357a	[An autopsy case of hereditary @PHENOTYPICFEATURE$ (hereditary @DISEASE$)].	false
+f5aebc2449f6d94126c4476ad3a923ad477bc33e	In all patients, rapidly progressive @DISEASE$ and @PHENOTYPICFEATURE$ were found.	false
+770ec3c1cadf70c3f115ee5fd91c4f6e2092c859	A combination of congenital central nervous, ocular and @PHENOTYPICFEATURE$ is characteristic of @DISEASE$ (MEB), of Fukuyama congenital muscular dystrophy (FCMD), and of Walker-Warburg syndrome (WWS).	false
+4951efbbc61b5563a95c6748d422cdba71d55c2b	HL deficiency is an autosomal recessive inborn @DISEASE$ in man leading to episodes of @PHENOTYPICFEATURE$ and coma.	false
+6287c33a824fa9ef752a9357512069ca176c2d0f	Compared with @DISEASE$ patients without fever at disease onset, patients with @PHENOTYPICFEATURE$ had significantly more painful joints (3.5 vs. 2.8), more swollen joints (1.1 vs. 0.8), and more enthesitis (1.0 vs. 0.4) (p<0.05 for all comparisons).	false
+443f23ad1cc6ac26858c4b9437dd0775dabb29c5	According to three major clinical presentations observed in 218 neonates with inborn @DISEASE$ of intermediary metabolism (neurological distress 'intoxication' type, neurological distress 'energy-deficiency' type and @PHENOTYPICFEATURE$ with liver dysfunction) and according to the proper use of few laboratory investigations, we propose a method of diagnosis which groups these children into five categories.	false
+02ff21ff62c2ffc3b5cc9d1d41c67dcfd53d555a	Both these @DISEASE$ positive cancer cells were killed by ?3 fold higher efficiency than that of ER negative MDA-MB-231 (advanced @PHENOTYPICFEATURE$ cell) and HeLa cells that are deprived of estrogen receptors.	false
+98ffea1f99fae128abc88c68b1df2f35a2b61573	Whole-exome sequencing was used to identify a de novo @PHENOTYPICFEATURE$ (c.629G>A; p.Arg210His) in KCNQ2 in a 7-year-old patient whose neonatal seizures showed a response to pyridoxine and who had a high plasma to CSF pyridoxal 5'-phosphate ratio, usually indicative of an inborn @DISEASE$ of vitamin B6 metabolism.	false
+9b872e6eea5f469d11f26a13c4743f8f9c50dc65	@DISEASE$ @PHENOTYPICFEATURE$ was associated with failures to engage sufficient autonomic reactivity.	false
+5c3c1c58272ced24d986d9a5ebf051cef64e0496	Hyperammonemia and @PHENOTYPICFEATURE$, cardinal features of many inborn @DISEASE$ of acyl-CoA metabolism, occurred spontaneously in some HLLKO mice and were inducible by administering KIC.	false
+ae0bf8a669c32559939c9d4c6f494e89312734ba	Mevalonic aciduria is a rare, inborn @DISEASE$ of isoprene biosynthesis characterized by severe, periodic attacks of @PHENOTYPICFEATURE$ and inflammation, developmental delay, ataxia, and dysmorphic features.	false
+cb835da3c74f3b27a34ba79de050391e578aacfb	@DISEASE$ @PHENOTYPICFEATURE$ and motivational significance: Shifts in networks centering on anterior insula co-vary with error awareness and pupil dilation.	false
+927cc3daee2f8f2155b814ce6c19000d593e55d9	Clinical features were collected including discolored nasal discharge, facial pain, @PHENOTYPICFEATURE$, double sickening, symptoms persisting longer than 10 days, and elevated serum C reactive protein (CRP) and erythrocyte sedimentation rate (@DISEASE$).	false
+592be6936693e2330d3aef1d38ac33d818f082e3	Miller-Dieker syndrome (@DISEASE$; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic @PHENOTYPICFEATURE$.	false
+2a388a320c034b86a9be98f7cfd4f54958232f27	Furthermore, the activities reported here indicate a potential role for rhG-CSF in the treatment of patients with @DISEASE$, @PHENOTYPICFEATURE$, radiation-induced myelosuppression, and after bone marrow transplantation.	false
+7568745066e1f1ab9c1169982bcc71c39c2db963	Besides lissencephaly, @DISEASE$ patients exhibit @PHENOTYPICFEATURE$ and frequently additional birth defects, e.g.	false
+ca6c453ea7043c60e079f20ce93c5bf4d321b7e0	Bilateral necrotizing scleritis and @PHENOTYPICFEATURE$ in the @DISEASE$ presumably due to relapsing polychondritis.	false
+21b8f05a5bd754f8de7fe5c1c93a8e5c26e2a34d	The purpose of this study was to report a case of bilateral @PHENOTYPICFEATURE$, bilateral necrotizing scleritis, and bilateral deafness in a patient with myelodysplastic syndrome (@DISEASE$).	false
+79f1599fe2b08e0201676ce7beaaaedb64e58335	The purpose of this study was to report a case of bilateral @PHENOTYPICFEATURE$, bilateral necrotizing scleritis, and bilateral deafness in a patient with @DISEASE$ (MDS).	false
+355814826f09c1b6d73e17ee4b7cd00de498274b	A 6-year-old girl presented with pancytopenia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f00e498451c385f79786bb06bb3cc1e87cd2b724	Furthermore, the activities reported here indicate a potential role for rhG-CSF in the treatment of patients with @DISEASE$, @PHENOTYPICFEATURE$, radiation-induced myelosuppression, and bone marrow transplantation.	false
+f5bd7bd854efc87af8126b7c47d57ab58d9aafc0	A 70-year-old male known with @DISEASE$ (MDS) was admitted with effort angina and @PHENOTYPICFEATURE$, which developed into unstable angina.	false
+03b9c16f4ede2cdd6e9c87b44186c3ea868e66a6	A 70-year-old male known with myelodysplastic syndrome (@DISEASE$) was admitted with effort angina and @PHENOTYPICFEATURE$, which developed into unstable angina.	false
+967fd01067ee5d9f246bb9c7a095375d834035ee	Three patients developed second malignancies: acute myelogenous leukemia (AML), @DISEASE$, and a cutaneous @PHENOTYPICFEATURE$.	false
+291f018c2ee9411cd676ebcf5db88bff31357412	A dog with @DISEASE$ had microcytic @PHENOTYPICFEATURE$, with siderocytes, poikilocytosis, hypersegmented neutrophils and giant platelets in peripheral blood.	false
+412043b1fbcc669694baa575dd0ed6859f6e3bfe	Originally described as a gene responsible for idiopathic @PHENOTYPICFEATURE$, it has become clear that SHOX mutations can also cause mesomelic short stature and @DISEASE$ in L?ri-Weill syndrome.	false
+0189c5233ed3d37dc6cdde726ee28032691531b3	SHOX gene deletion screening by FISH in children with @PHENOTYPICFEATURE$ and @DISEASE$ and their characteristics.	false
+1a3664949995914f656390a7edc9fb805ba45d8d	Methods Between 2010 and 2017, we evaluated 86 patients (70 females, 16 males; age 4.3-18 years) with clinical diagnoses of @PHENOTYPICFEATURE$ and @DISEASE$ (MD).	false
+40cd2e1541128285f6620559a47ce515d42bde11	@PHENOTYPICFEATURE$ homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short stature and @DISEASE$, but also presentations without evident malformations.	false
+ea5029f07a995c96731006d973f3c4f3a207290a	This report describes a 16-year-old girl with @PHENOTYPICFEATURE$ (-5 standard deviations), normal puberty, panic attacks, absence epilepsy, some stigmata of Turner syndrome, and a @DISEASE$.	false
+37b13ee4e52a3dff7696a4df46e6de6a12848476	Although originally described as causing idiopathic @PHENOTYPICFEATURE$, SHOX mutations are also responsible for mesomelic growth retardation and @DISEASE$ in L?ri-Weill dyschondrosteosis and Langer mesomelic dysplasia.	false
+e13fbf734403bd2f2cc72a685b274fc38d9e8431	A female patient of normal intelligence with @PHENOTYPICFEATURE$ and @DISEASE$ is reported with L?ri-Weill dyschondrosteosis and a de novo pseudodicentric X;Y translocation chromosome.	false
+7c9f2d81c5e6cedd7b9b399c842c6d97bbcff003	@PHENOTYPICFEATURE$ is present in mother and son, but both also had bilateral @DISEASE$, a key finding in the L?ri-Weill syndrome.	false
+a1d7a6e4c97fed9ce1956636216462d3a868f7b1	At 7 years of age, he exhibited @PHENOTYPICFEATURE$ (-3.9 SD) with a reduced growth rate (3.8 cm/year), short 4th metacarpals, and mild @DISEASE$.	false
+1bacee5b977df2a5706b1ee06db13676ecb2aafc	Defects in SHOX or its enhancers have been observed in ?60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by short stature and/or the characteristic @DISEASE$, and in 2-5% of idiopathic @PHENOTYPICFEATURE$ (ISS).	false
+5eb55dac334e74f6a598dcb3eb527373cefaf1e1	Defects in SHOX or its enhancers have been observed in ?60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by @PHENOTYPICFEATURE$ and/or the characteristic @DISEASE$, and in 2-5% of idiopathic short stature (ISS).	false
+62b74282c2459d833c32ad6f885b9dcac0577af2	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and @DISEASE$, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+2b77c2733a5392760c6049cde6bec6307355c540	Both aging and @PHENOTYPICFEATURE$ were the risk factors for @DISEASE$, hypertension and CHD.	false
+40b703664ae7e78e5e51fc8580555febf0fe0e1c	Abnormal glucose metabolism (@DISEASE$) adversely impacts morbidity and mortality in patients with @PHENOTYPICFEATURE$.	false
+49a9e4a8ed533dd3a5f06eaebd9e14a64627c3b2	Severe or high-grade myopia is a leading cause of blindness because of its associated ocular morbidities of retinal detachment, macular @DISEASE$, premature @PHENOTYPICFEATURE$, and glaucoma.	false
+141b6734bd4bc8a0cf753b63525ccaf60effd225	High amounts of myopia are associated with an increased risk of sight-threatening problems, such as retinal detachment, @DISEASE$, @PHENOTYPICFEATURE$, and glaucoma.	false
+20dd8ead583920bd00579687d5c92ae134de5040	Severe or high-grade myopia is a leading cause of blindness because of its associated ocular comorbidities of retinal detachment, macular @DISEASE$, premature @PHENOTYPICFEATURE$, and glaucoma.	false
+5f4277d27cd5ff59cf258c47b240e02fb67a6d49	We report a male with FS with an unusual phenotype characterized by normal penis size with perineal hypospadias, end-stage renal failure at the age of 19 yr, normal adult male serum T levels, extremely elevated gonadotropin levels, para-testicular leiomyoma, unilateral @DISEASE$, bilateral gonadoblastoma, and absence of @PHENOTYPICFEATURE$.	false
+ee6736a9e86508ca2f3089c99132824879b62bc5	Mitochondrial dysfunctions link to various syndromes and diseases including @PHENOTYPICFEATURE$ epilepsy and ragged-red fiber disease (MERRF), @DISEASE$ (LS), and Leber hereditary optic neuropathy (LHON).	false
+df46b81b65d3037a0cef84ed28d0a92b80b03da0	The subunit pattern of COX is normal by immunoblot in patients with fatal myopathy and @DISEASE$; a disproportionate decrease of subunit II was seen in a patient with @PHENOTYPICFEATURE$ epilepsy with ragged red fibers.	false
+ace553689026f8815d6acaad82d90cb8216c9d96	Late-onset @DISEASE$ with @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers.	false
+daceac8ac4a21955d73756d689e02df786020d0a	Syndromes which have been culled out include congenital lactic acidosis, @DISEASE$, intermittent ataxia, Kearns-Sayre-Shy syndrome (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged red fibers (MERRF), and mitochondrial myopathy-encephalopathy-lactic acidosis-stroke (MELAS).	false
+04ffdbb67fa0947f625242ef5e1c4cfed8a610d0	The neuroimaging spectrum ranges from classical @DISEASE$ with symmetrical lesions in basal ganglia and/or brain stem to structural abnormalities including @PHENOTYPICFEATURE$ and corpus callosum dysgenesis.	false
+fe03d00bb3f12181e8e37c200c9d4557f725093e	A novel presentation of inappropriate antidiuretic hormone secretion in @DISEASE$ with the @PHENOTYPICFEATURE$ epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.	false
+a50e68ff19b165f3b237beb98cad559bd96992f2	The more profound neurologic abnormalities include @DISEASE$, @PHENOTYPICFEATURE$, and atypical Charcot-Marie-Tooth disease.	false
+4dddb7964927d1d8ff0ed61e8e9d57d1d1714fe5	There are two major syndromes, one characterized by muscle involvement (fatal infantile or benign infantile myopathy), the other dominated by brain disease (@DISEASE$, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, Menkes' disease).	false
+e2ebfb3dc9897731e70f9bc3dc374828c1be7000	Although this mutation has been identified in approximately 30 individuals with these disorders, to our knowledge, this is the first reported case of overlapping @DISEASE$/@PHENOTYPICFEATURE$ epilepsy with RRF in an adolescent patient, and the largest reported pedigree of mitochondrial DNA A8344G mutation.	false
+7db298642014e62677bfe6c17609ccf82c3f794a	The A8344G mitochondrial DNA mutation may present with @DISEASE$ or other different atypical clinical features without @PHENOTYPICFEATURE$ epilepsy and ragged red fibers.	false
+18bcca0f9f4a075024fa29a257ee7c3e956aff53	@DISEASE$ (CS) is characterized by multiple vascular and cardiac abnormalities including vascular dilation and tortuosity, systemic @PHENOTYPICFEATURE$, and cardiomegaly.	false
+5f51717c510e8165b1dc2a14be4db95d627a8432	She developed progressive spastic paralysis of the @DISEASE$ and lower limbs and @PHENOTYPICFEATURE$.	false
+e7e15b8b54b3f160aaece9d771befe60da93c6eb	In the @DISEASE$ motor neuron syndrome, hypertonia could be caused by a combination of @PHENOTYPICFEATURE$, spastic dystonia, and soft tissue stiffness (rheologic changes).	false
+0f2a78d9d0bf1c79fbc556dbd56c19e51f753ab2	In the @DISEASE$ motor neuron syndrome, hypertonia could be caused by a combination of spasticity, @PHENOTYPICFEATURE$ dystonia, and soft tissue stiffness (rheologic changes).	false
+2d62cd8b3c90176fa3ccefe4abacbd5a6f9f55a9	In the @DISEASE$ motor neuron syndrome, @PHENOTYPICFEATURE$ could be caused by a combination of spasticity, spastic dystonia, and soft tissue stiffness (rheologic changes).	false
+db94ad5ccf7d811d3c4fc2145b32f22d95a4a72d	@DISEASE$ @PHENOTYPICFEATURE$ is pathologically characterized by brain iron accumulation.	false
+fce1dc51819d8369b3180764f2c0f6a19626e034	@PHENOTYPICFEATURE$ of @DISEASE$ jaw.	false
+348aa84c65a61b9bb5c524f9676f5d8a2c570a2b	@PHENOTYPICFEATURE$ presents muscular hypertonia and hyperexcitability of the stretch reflex, which are typical of @DISEASE$ motoneuron syndrome.	false
+c624fadee34a6c0a51a615b6fc30dd558ff8c529	Spasticity presents muscular @PHENOTYPICFEATURE$ and hyperexcitability of the stretch reflex, which are typical of @DISEASE$ motoneuron syndrome.	false
+58d8099316c835bccdb068124090b36a07827971	The patients also showed clinical and electrophysiological signs of @DISEASE$ and/or lower @PHENOTYPICFEATURE$.	false
+bd57323f3f55d87adddb79b5c97280e036a8ba22	On neurological examination, he had bilateral external ophthalmoplegia, @PHENOTYPICFEATURE$ dysarthria, dysmetria and tremor in the @DISEASE$ extremities, and marked gait ataxia.	false
+68dfe56edb28043fc6c69170f71f826889c696a0	On neurological examination, he had bilateral external ophthalmoplegia, ataxic @PHENOTYPICFEATURE$, dysmetria and tremor in the @DISEASE$ extremities, and marked gait ataxia.	false
+fce1dc51819d8369b3180764f2c0f6a19626e034	@PHENOTYPICFEATURE$ of @DISEASE$ jaw.	false
+2338223e3c5413bcb4723007af776e86ad327cb0	Endosonography and endosonography-guided biopsy of @DISEASE$-@PHENOTYPICFEATURE$ using a curved-array echoendoscope.	false
+c4e01dbab020364cc7c9c97529bfbade5ef9311e	Focality of @DISEASE$ and lower @PHENOTYPICFEATURE$ at the clinical onset of ALS.	false
+5dd4dcf14a50da56a9d63cce7d28be623dd6fa17	@PHENOTYPICFEATURE$, even when combined with exercise, decreases hip @DISEASE$ in obese older adults.	false
+28e25f0bb2b11bb827dd661275b86d0373a62c30	The purpose of this study is to examine the relation of low bone mineral density (@DISEASE$) with @PHENOTYPICFEATURE$.	false
+5637ffae1cc2a2c90d54d172ba18904e041798c8	All patients diagnosed with ARB or @DISEASE$ should be examined for narrow angles and @PHENOTYPICFEATURE$, given their frequent association with these conditions.	false
+803353db593f894770f5b80b5044d0d087f1b904	@DISEASE$ loss is persistent over time and predominantly situated at the femoral level, and strongly associated with @PHENOTYPICFEATURE$.	false
+d33b85e2392adbc438450616c262abf177160fb8	Changes in beta-CTX and total hip @DISEASE$ were significantly associated with @PHENOTYPICFEATURE$, which is known to increase bone resorption markers and decrease BMD.	false
+ed27578846716e771b0af91107f62389d36e10a7	Changes in beta-CTX and total hip BMD were significantly associated with @PHENOTYPICFEATURE$, which is known to increase bone resorption markers and decrease @DISEASE$.	false
+a14f93e8a08bcd6d7680a2f1d975507245a55b14	This study found that Hb and @PHENOTYPICFEATURE$ status were associated with @DISEASE$ scores.	false
+caa6101a8f72861c2dd46eb492dc1871720c2a57	Patients with DMD and @DISEASE$ should be screened systematically for @PHENOTYPICFEATURE$.	false
+8c47bdf999a00125b4b4c7a31f9ced46b78f97a0	In young women with amenorrhea associated with @PHENOTYPICFEATURE$, @DISEASE$ loss will be occurring soon after the amenorrhea develops.	false
+3f21252c52b5c9fd6c4c8f4592cefa45bd261b4e	Mutations in bestrophin-1 (Best1) cause Best vitelliform macular dystrophy (@DISEASE$), a dominantly inherited @PHENOTYPICFEATURE$ disease.	false
+0954879f301b93bfe0f9e58b337c1ecf8ce69f2d	Lumbar spine @DISEASE$ had negative correlations with BASDAI, BASFI, spine @PHENOTYPICFEATURE$, ESR, and CRP (P?<?0.05).	false
+a0c7c75b5817b29b76337405b533fd8f70a96dc9	Patients who had unfavorable @PHENOTYPICFEATURE$ characteristics had the greatest improvement in @DISEASE$.	false
+d83b3a1a056eebe6c1cd9dafb947ee1a8bd2410c	Thus, the present study successfully established @DISEASE$ patient-derived xenografts and subsequently generated two CDS cell lines from the grafted @PHENOTYPICFEATURE$.	false
+a8593fa112e5844e255f52c6ff54bcb0d490bba3	B-flow detects hepatic @PHENOTYPICFEATURE$ blood flow with sensitivity as high as that of @DISEASE$.	false
+554ce789b18e56eab50a004b7835e03ba4fbe994	To evaluate the predictive value of radiotherapeutically relevant @PHENOTYPICFEATURE$ hypoxia by contrast-enhanced color duplex sonography (@DISEASE$).	false
+be2b07b070d568c0142e2349fd0836d57f318fbf	The patients with spinal @DISEASE$ present with meningitis and/or mass effect from the associated inclusion @PHENOTYPICFEATURE$.	false
+badf219d4d5f704466f84a1750cce553793be90f	No patient developed local infection nor local @PHENOTYPICFEATURE$ recurrence after treatment with @DISEASE$.	false
+53cb16d09c5bebc15d7a8452a807e96a1fdf45a3	Multivariate regression was used to identify predictors of receipt of @DISEASE$ in each @PHENOTYPICFEATURE$ group.	false
+d564aa45ad8ef00dddb487748d75ab71e30cb205	Contrast-enhanced color duplex sonography (@DISEASE$): an alternative for the evaluation of therapy-relevant @PHENOTYPICFEATURE$ oxygenation?	false
+28bb8e83ddd91a99e9432189b5d206961eafb1cd	By using colour Doppler sonography (@DISEASE$), it is possible to detect and assess vascularisation of @PHENOTYPICFEATURE$ of the nerve.	false
+e0f86d1f6708895a9a8bcf64c8cf2c8025d1fa4f	Renal artery disease can cause both hypertension and @PHENOTYPICFEATURE$, and color Doppler sonography (@DISEASE$) may be a good screening method to detect it.	false
+a5d7f1dea1d86a6e048338782252d7b1e211e0b8	Several studies delineated structural and functional @PHENOTYPICFEATURE$ in @DISEASE$ patients and mouse models, yet the abnormalities have been primarily attributed to autonomic dysfunction.	false
+2d7c6223c51ae383b2d2fc9da28b97a2cb0cf1fe	A review of the literature revealed a total of 12 patients with central nervous system @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a928994853a882c4e99e460dc117dbfb4e894845	Other causes are benign hepatic lesions (hemangioma, adenoma, focal nodular hyperplasia, nodular regenerative hyperplasia, biliary cystadenoma and angiomyelolipoma), malignant hepatic tumours (angiosarcoma, haemangioendothelioma, hepatoblastoma and @DISEASE$), peliosis hepatis, amyloid, @PHENOTYPICFEATURE$, polyarteritis nodosa, HELLP syndrome and acute fatty liver of pregnancy.	false
+0d88053200823cd3413513be04ecd14346d4d6c2	@DISEASE$ is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and @PHENOTYPICFEATURE$.	false
+d84bf2e191ded6325b08bdae8dde7d8ecc0457d4	@DISEASE$ (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and @PHENOTYPICFEATURE$.	false
+540e60ce030f27af27c832c02f41995b8eb55253	@DISEASE$ is an autosomal dominant disorder characterized by acroosteolysis of the distal phalanges associated with digit abnormalities, distinctive craniofacial changes, dental anomalies, and a @PHENOTYPICFEATURE$.	false
+a846b795e0ed8f819a863d81f6e4052b750b69b4	[Unspecific skin manifestations of the @PHENOTYPICFEATURE$ exsudativum multiforme type in @DISEASE$].	false
+bbedab7631775bb51de7f35e97a7a852554045d3	[A case of congenital @DISEASE$ with @PHENOTYPICFEATURE$ as an initial manifestations (author's transl)].	false
+0f225fda0dc2dda48fc7623d33de1c4f46c9385f	In humans, mutations in HOXD13 have been associated with type II @PHENOTYPICFEATURE$ or synpolydactyly, and, in HOXA13, with @DISEASE$.	false
+f6e937a0a87f69ec883eb4c4c9b086dc5e042db3	Bardet-Biedl syndrome (BBS) and @DISEASE$ (LMS) have a similar phenotype, which includes @PHENOTYPICFEATURE$, obesity, and hypogenitalism.	false
+a06937c7e88fbde0673dd01bce34636aade6b097	Intracerebroventricular (i.c.v.) injection of rutin dose-dependently affected minimal clonic seizures (@DISEASE$) and generalized tonic-clonic seizures (GTCS) induced by PTZ, through increments in @PHENOTYPICFEATURE$ onset.	false
+07e695c851c506cbf03d47229a9abaf7494c5d18	Persons who met the criteria for @DISEASE$/IEI more often reported the following than did other subjects: more than 12 days in bed due to disability, Veteran's Affairs @PHENOTYPICFEATURE$ status, Veteran's Affairs disability compensation, medical disability, and unemployment.	false
+0b3fd8341cfb9ae4992f9719417e1d2c1524b420	In PTZ test, latency to the first minimal clonic seizure (@DISEASE$), latency to the first generalized tonic-clonic seizures (GTCS), the total duration of @PHENOTYPICFEATURE$ and protection against mortality were evaluated.	false
+b86375f551ed5f0df305eb9451325311c0c60553	In contrast to patients in VS, a third of patients in @DISEASE$ improved more than 1 year after @PHENOTYPICFEATURE$ onset.	false
+976f3032fce99f4753f520f3402bebd1947d2766	Technical problems during stimulation occurred in three patients (13.6%), no motor response was elicited in two (9.1%), and @DISEASE$ induced @PHENOTYPICFEATURE$ occurred in three (13.6%).	false
+0e07b1a9318a74c36192ad0763a9858d21add2ef	To assess the efficacy of epidural motor cortex stimulation (@DISEASE$) on dystonia, @PHENOTYPICFEATURE$, pain, and quality of life in patients with dystonia secondary to a focal basal ganglia (BG) lesion.	false
+bdf5478954c925c204a64a633ccb879ade125bb4	The final recommendations of the jury, based on the best available evidence combined with clinical expertise and the experience of persons with disabilities and other stakeholders, cover 13 topics: 1) Management of paroxysmal manifestations (sympathetic storms); 2) management of neuroendocrine problems; 3) nutrition; 4) swallowing; 5) ventilation/respiration, 6) clinical and instrument diagnosis and prognosis of vegetative state (VS) and minimally conscious state (@DISEASE$), 7) rehabilitative and pharmacological facilitation of renewed contact with surroundings; 8) neurosurgical complications and hydrocephalus; 9) sensorimotor impairment and @PHENOTYPICFEATURE$; 10) rehabilitation methods; 11) assessment and treatment of cognitive-behavioural impairment and disability; 12) methodology and organization of care; 13) involving family and caregivers in rehabilitation.	false
+e69ad3bfff65b88ba72cbef45ca6fdda87386964	The neuropathology of the vegetative (VS) and minimally conscious (@DISEASE$) states and the pathophysiology of @PHENOTYPICFEATURE$ are reviewed.	false
+2ef78972394010af829e7f85a642dc8187a905be	Latency to first minimal colonic @PHENOTYPICFEATURE$ (@DISEASE$) and the first generalized tonic-clonic seizures (GTCS) as well as the mortality rate were recorded.	false
+31cdeaf71e74ccd180bf6e0a2a8a41c202d9a147	We compared the MMPI-2 profiles of adults with multiple chemical sensitivity (@DISEASE$), epileptic seizures (ES), and nonepileptic @PHENOTYPICFEATURE$ (NES).	false
+c698d9c7b952f35cc0726eb71896e0ab4c48880b	We compared the MMPI-2 profiles of adults with multiple chemical sensitivity (@DISEASE$), @PHENOTYPICFEATURE$ (ES), and nonepileptic seizures (NES).	false
+74ff92356bf24ebe6e0ba260937b21c8be96cc1e	HERS may be severe and its manifestations include @PHENOTYPICFEATURE$, intoxication, hemorrhages and @DISEASE$.	false
+27b11a38de4b8e192b6adbf8b3915c9f1f66fffc	Criteria of efficacy were clinical, laboratory and instrumental data (rate of stool, hemodynamics, @PHENOTYPICFEATURE$, @DISEASE$, hemoglobin, level of leukocytes and albumin, results of endoscopy and roentgenoscopy).	false
+4f39ff4905bd62f5becc04bde109acd3ecdb110a	Specific chronic postsurgical pain syndromes evaluated include complex regional pain syndrome, phantom @PHENOTYPICFEATURE$, chronic donor site pain, post-thoracotomy pain syndrome, and postmastectomy @DISEASE$.	false
+88d32b21e0d3b5363e1517191b93b07c13f5c9ac	The author analyzes the features of the @DISEASE$, arthritis, @PHENOTYPICFEATURE$, and other manifestations of the disease.	false
+0736339b487dce14ea26fd03865b023ffb84a982	[Generalized @DISEASE$, @PHENOTYPICFEATURE$ and somnolence in an 81-year-old patient].	false
+4001ccb31c365ec60732182a1ebfca97aba5728c	@DISEASE$ is a rare, recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+9741580fd575c5bf7e297b0e7452769eca534276	The evolution after resection by distal pancreatectomy was remarkable for the successive occurrence of a Zollinger-Ellison syndrome which was resistant to a gastric resection, then a hyperglycemia @PHENOTYPICFEATURE$ with ketoacidosis and finally a @DISEASE$.	false
+2fae35714ccfd8b47c30e5e047be7dc71d31470c	A 69-year-old woman with classic @DISEASE$ had associated progressive neurologic disease manifest as dementia, @PHENOTYPICFEATURE$, optic atrophy, and lower limb weakness.	false
+326869bc5ec4bf8aacecc8b5d47f13d4cc90db90	@DISEASE$ is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone @PHENOTYPICFEATURE$ loss, synkinesia, eye movement abnormalities, poor balance due to cerebellar ataxia, etc.	false
+90ae98d7f5f004c7344d67995a2678a54e4e5c40	To assess the impact of manual lymphatic drainage (@DISEASE$) on the health-related quality of life (HRQoL) of adults with @PHENOTYPICFEATURE$ or mixed oedema, through a systematic review of randomised controlled trials (RCTs).	false
+57e80760f2dfc6cfb59eb0d64ce84a2d04893677	We studied 5/200 @DISEASE$ patients addressed to us for behavioral abnormalities and @PHENOTYPICFEATURE$.	false
+1e417bd3f2fba86b549d6d4d5b633d8a24218082	95% CI=-9.1 to -0.15, P=0.04) and @PHENOTYPICFEATURE$ (d =-9.2, 95% CI=-17.4 to -1.0, P=0.03), and a number of altered sensations, such as pain and heaviness, were also significantly improved by @DISEASE$.	false
+ad548f65e180122a178bb6e2d17507e3f39622aa	The radiologist is rarely directly confronted with contrast medium-induced renal impairment or @DISEASE$ @PHENOTYPICFEATURE$.	false
+6f4714e5351af8ed34a85ed9beecf7c8cbf60644	The absence of dystrophin leads to myofiber membrane fragility and necrosis, with @DISEASE$ muscle atrophy and @PHENOTYPICFEATURE$.	false
+3451a03ac01cd510319acb8a71c416302c38e5c7	In experimental animals, a reduction in renal mass leads to glomerulosclerosis of the residual parenchyma and @DISEASE$ @PHENOTYPICFEATURE$.	false
+76d4735a240c13240c2ade16d9ff998f97bcdf9a	Risk factors for 1-year mortality among patients with @DISEASE$ included @PHENOTYPICFEATURE$, worse functional class, and bleeding requiring transfusion.	false
+5da80341f26c03062abeefd1901eca333c091ee5	When left untreated, hypercalcemia leads to nephrocalcinosis, impairment of kidney function, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+acf6ac81c31d759272058f2431c9c3e18da022e9	ADPKD is characterized by progressive replacement of kidney tissue by epithelial cysts and @DISEASE$ @PHENOTYPICFEATURE$.	false
+63293ca18e171a9a6453addaaa8fa9fb37e8c573	Ureteropelvic junction obstruction is a well-recognized cause of pain and @DISEASE$ @PHENOTYPICFEATURE$.	false
+1124e02ff0c0544ca3198398c8897a3908704c64	This can ultimately result in upper tract deterioration and @DISEASE$ @PHENOTYPICFEATURE$.	false
+52f3a77178543ac4eb5ad14bb1f6172afcca0b24	Dent's disease is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and @DISEASE$ @PHENOTYPICFEATURE$.	false
+fe702becc0d2cb58bb2f3f1105945e8dd08f0ff7	Forty-three symptomatic patients with bilateral @PHENOTYPICFEATURE$ were studied in which one limb was randomly assigned to receive EVA without SFJ ligation, and the other limb received @DISEASE$ with SFJ ligation.	false
+633317a978ddfbe7edee87b878052f24d49292df	Their polysaccharides covalently attach to the serine residues on specific core proteins through the common linker region tetrasaccharide, -xylose-galactose-galactose-glucuronic acid, which is produced through the stepwise addition of respective monosaccharides by four distinct glycosyltransferases. Mutations in the human genes encoding the glycosyltransferases responsible for the biosynthesis of the linker region tetrasaccharide cause a number of genetic disorders, called glycosaminoglycan linkeropathies, including @DISEASE$, @PHENOTYPICFEATURE$, Ehlers-Danlos syndrome, and Larsen syndrome.	false
+29bc034636dcd7e97acbce606ea6edc5116bf0a3	Furthermore, recent evidence suggests that @DISEASE$ such as constipation, olfaction, rapid eye movement @PHENOTYPICFEATURE$, fatigue, and depression may be markers of a preclinical stage of PD.	false
+35180127bdb14009313d8e812c4f63b95cbf6589	Neuroleptic malignant syndrome (@DISEASE$) is an uncommon potentially fatal side effect of neuroleptic drugs, characterized by @PHENOTYPICFEATURE$, altered mental status and autonomic instability.	false
+b21ab0bf8df4abe5b3efe6fe9891dfb8e8f0303d	@DISEASE$ (NMS) is an uncommon potentially fatal side effect of neuroleptic drugs, characterized by @PHENOTYPICFEATURE$, altered mental status and autonomic instability.	false
+cb8f7965f105cc171094d6491e9561371ee53e86	@DISEASE$ can develop at all stage of PD and rapid eyeball movement sleep @PHENOTYPICFEATURE$ (RBD), constipation, depression, and olfactory dysfunction are considered prodromal signs of PD.	false
+927b52fa345e81dd1dde291f21f6be72a643db80	Such symptoms include delirium, dementia, @DISEASE$, @PHENOTYPICFEATURE$, psychosis, and depression.	false
+31f4e46d88967d9f9d3737b87cddd56f0a6af6c8	Neuroleptic malignant syndrome (@DISEASE$) is the rarest and most serious of the neuroleptic-induced @PHENOTYPICFEATURE$.	false
+4a892ba1d408ddef4a3d7f19fd0b0cd71e61ebf9	@DISEASE$ (NMS) is the rarest and most serious of the neuroleptic-induced @PHENOTYPICFEATURE$.	false
+949dc51ae14532195b51758da248bd291048611b	The @DISEASE$ is an uncommon but occasionally fatal reaction to antipsychotic medication characterized by fever, @PHENOTYPICFEATURE$, and stupor.	false
+e8422c8a8eea6ab8093c94eec3fe00ea64e9be38	ECT is part of the treatment of @PHENOTYPICFEATURE$, @DISEASE$ and even in the treatment of severe conversions.	false
+0abdc737e0ca360d0c29396e26f32431275c84cf	Less frequent neurological complications were metabolic encephalopathy, @DISEASE$, reversible posterior leukoencephalopathy syndrome, brain infarct and @PHENOTYPICFEATURE$.	false
+5e0e0739e8e5c2ecf1565ca992fcb5cb2b3ad80e	@DISEASE$ is the rarest and the most serious of the neuroleptic induced @PHENOTYPICFEATURE$.	false
+3ab664e6a4b5200c057de75e53b8bd87b1ab32e4	It was of interest that neuroleptic-induced @PHENOTYPICFEATURE$ and @DISEASE$ were common.	false
+d88c81ff1fc7b96aa23537c6e4998db1e2039769	[Cetuximab-associated @PHENOTYPICFEATURE$ in patient with metastatic @DISEASE$: a case report].	false
+acce7208abc0d0c6ad0dae9de94d3479dd509ff7	@PHENOTYPICFEATURE$ in @DISEASE$ survivors: the influence of oxaliplatin administration.	false
+69c3ea001ac175cfbe1e16d5aa3bf662d4718994	Rechallenge with oxaliplatin and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+d454a2576b8b6a80f96da6fbc0c92a1963f3db7f	Oxaliplatin, a chemotherapeutic drug for @DISEASE$, induces severe @PHENOTYPICFEATURE$.	false
+a4214355b81be4759f68220ed89d18cd5391b85a	Furthermore, even in cases of widespread @DISEASE$ metastases, excision of the @PHENOTYPICFEATURE$ is required to establish a histological diagnosis for the selection of appropriate treatments.	false
+b66d064bff17d9288775ec74fefe5ffad1284b94	@PHENOTYPICFEATURE$ in patients with @DISEASE$ receiving oxaliplatin.	false
+3937fb7152256fdd159a27628a240dad3c2ee85f	@PHENOTYPICFEATURE$ is a common complication for patients undergoing surgeries for prostate, bladder, and @DISEASE$, due to damage of the nerves associated with the major pelvic ganglia (MPG).	false
+e33297327a29ba736812ca460eec368ea2d129dd	Tumor @PHENOTYPICFEATURE$ and metastasis is the main cause of death in @DISEASE$ (CRC).	false
+7f4a43b5017a62781067a53278c196779b8144b3	Subclinical @PHENOTYPICFEATURE$ is a common finding in @DISEASE$ patients prior to chemotherapy.	false
+bfeb18c07449c419307d675b02d2310cd4d5ae2e	A descriptive study of persistent oxaliplatin-induced @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+20757a1caec0bf689f488e58a89354d9a5365319	A multigenerational family with @DISEASE$ characterized by clubfoot and mild hand @PHENOTYPICFEATURE$ was identified, and exome sequencing was performed on DNA from one of the affected family members.	false
+553d51bc40d2ad1c7b41e73b2ed13a7e2bda5017	The results show that many children have a family history of autoimmune diseases (psoriasis, rheumatoid arthritis, celiac disease, @DISEASE$), allergies and food intolerances, suggesting a putative involvement of the immune system in @PHENOTYPICFEATURE$ etiopathogenesis.	false
+275cde66e7b706865e612294e3e550a2a02f7938	The radiologist must be aware of the associated clinical signs: oral and @PHENOTYPICFEATURE$ lesions in the Beh?et syndrome; finger necrosis in a young male smoker in Buerger disease; hip and shoulder arthropathy and headache in a 70 Year old female and Horton disease; pulseless upper limbs and inflammatory syndrome in a young adult for the @DISEASE$.	false
+85d39cdf4abf6fd6c807d58fc54ac9c2585e3ec3	Cerebellar swelling with obstructive @PHENOTYPICFEATURE$ is a rare but life threatening condition, associated with different etiologies, @DISEASE$ (HLH) being rarely one of them.	false
+f7ea72258e8d44bffe6247a978b80104709b6437	In contrast, the pregnant @DISEASE$ patients had higher risks for hypertension, proteinuria, @PHENOTYPICFEATURE$, urinary tract infection, renal dysfunction and preeclampsia during their pregnancies.	false
+9d0ec44d5f72ef75219804cbd1558a52acfff4cf	A 51-year-old female patient with renal transplantation due to @DISEASE$ and diabetic nephropathy was admitted to our hospital with facial pain and minimal @PHENOTYPICFEATURE$ of the left half of her face on the 8th month of transplantation.	false
+4dbf1343423d600dd583ae351d2721826c8a2d83	A 47-year-old woman with family history of @DISEASE$ (ADPKD), who underwent living-donor kidney transplantation in 2000, presented with recurrent @PHENOTYPICFEATURE$, hyperreninemia, and hyperaldosteronism.	false
+de0397850573dd8ddd60f8656fd47ed759009cbe	A 47-year-old woman with family history of autosomal-dominant polycystic kidney disease (@DISEASE$), who underwent living-donor kidney transplantation in 2000, presented with recurrent @PHENOTYPICFEATURE$, hyperreninemia, and hyperaldosteronism.	false
+9b3646e273fcf1611d2769ea7dd42972d3a6cc92	@DISEASE$ is associated with progressive retinopathy characterized by the development of angioid streaks, which may be complicated by choroidal neovascularization, the predominant cause of @PHENOTYPICFEATURE$.	false
+e07b416a79da13379bafde2d93c60c1ab45cbe1e	Patients affected by @DISEASE$ usually manifest severe mental retardation and convulsions, whereas beta-ketothiolase-deficient patients present encephalopathic crises characterized by metabolic acidosis, @PHENOTYPICFEATURE$ and coma.	false
+842b6a57b19db5d15b36df9cce8b44c1260dd221	A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal @PHENOTYPICFEATURE$ dysplasia resembling @DISEASE$.	false
+e107b5ade7502136728abb1688432800436d103e	Twenty-five patients (14 women) suffering from chronic poststroke leg spasticity with @PHENOTYPICFEATURE$ deformity (Modified Ashworth Scale [@DISEASE$] score, >/=1), aged 38 to 77 years (mean +/- standard deviation, 58.5+/-10.4	false
+f81c8305a82b82c3768bd0d22cf440e0b607b7b4	Systemic glucocorticoids are used mainly for severe JIA-associated complications such as macrophage activation syndrome (@DISEASE$), myocarditis, pericarditis, pleuritis, peritonitis, and severe @PHENOTYPICFEATURE$; as bridging therapy while waiting for the full therapeutic effect of DMARDs; and in certain occasions for patients with severe refractory uveitis.	false
+c094236c6cc1829f42a28f599b1216e4051fcc60	@PHENOTYPICFEATURE$ during pregnancy, PIH and GDM were important risk factor associated with @DISEASE$.	false
+a960d2a59e248767381a7c4982043644ba118ecc	Hematopoietic traits of red and white blood cells (like erythrocytosis and myeloproliferative disease), autoimmune disorders (like type 1 diabetes, coeliac disease, juvenile idiopathic arthritis, rheumatoid arthritis, thrombotic antiphospholipid syndrome, lupus erythematosus, multiple sclerosis, hypothyroidism and vitiligo), also vascular pathology (like kidney glomerular filtration rate deficits, serum urate levels, plasma beta-2-microglobulin levels, retinal microcirculation problems, diastolic and systolic blood pressure and hypertension, cardiovascular infarction), furthermore @PHENOTYPICFEATURE$, neurodegenerative conditions (like the polyglutamine-expansion disorder @DISEASE$, Parkinson's disease, the motor-neuron disease amyotrophic lateral sclerosis, and progressive supranuclear palsy), and finally longevity were reported.	false
+4083869b55bf9a229433fb6215e67ac1bbda0125	Genetic variance in the @DISEASE$ (ATXN2) gene in children with severe early onset @PHENOTYPICFEATURE$.	false
+5f35b9dab2bee1475bc25fcb7a7d8f45b040e072	We report on a stem cell-transplanted patient with B cell @DISEASE$ who presented with a subacute onset of focal neurological deficits, @PHENOTYPICFEATURE$, emotional lability and dementia.	false
+25e8f37742482d7ecb4fdc5bb74074599f1d6006	We describe a case of a 79-year-old man with @DISEASE$ (CLL) who presented with @PHENOTYPICFEATURE$; falls; vision loss; and numerous mobile erythematous nodules on the chin, neck, scalp, and trunk.	false
+29db8f5cdc791c5b023df2d3e5bd911fd8127672	In this case report, a 61-year-old man developed severe @PHENOTYPICFEATURE$, vertigo, and occipital headaches 4 weeks after diagnosis with otherwise asymptomatic @DISEASE$.	false
+62bc959de8423b3697535bc100012409c43f42db	@PHENOTYPICFEATURE$ led to investigation of a broader differential diagnosis (cyclosporine intoxication, post-transplant lymphoproliferative disorder, infectious disease, @DISEASE$).	false
+89672967f7b134df8f7e16b078d77e25e11044d8	@PHENOTYPICFEATURE$ and diplopia in a patient with @DISEASE$.	false
+102a268423863a9b5981037aa14f5808677cc739	We present the case of a 75-year-old male patient who was admitted to a rural hospital with @PHENOTYPICFEATURE$, disorientation, and signs of progressive @DISEASE$ disease.	false
+05eb92d829ee6d0c2d3042b4ee4c05428975e584	A 63-year-old man with a history of @DISEASE$ and a prosthetic aortic valve was hospitalized because of a mastoiditis, complicated by meningitis and @PHENOTYPICFEATURE$.	false
+cc9f6f188d35e2a36881a875928d23ce7c5fe738	Monoclonal B-cell lymphocytosis was detected in one relative of a patient with @PHENOTYPICFEATURE$ @DISEASE$ in a frequency similar to the one reported in general population.	false
+adbd70a76f1e5ebaf4a153549bb140c2c80d5798	The behavior of this hematologic entity is unknown therefore its frequency in @PHENOTYPICFEATURE$ @DISEASE$ patient relatives was determined.	false
+84067aeb4e427744ee2fa72a88ffe81d38a201f1	Our patient had refractory @DISEASE$ and PVB19 in bone marrow and serum; he presented with 6-week history of progressive pan-@PHENOTYPICFEATURE$.	false
+3835cef592a2789fdac81589701665ab6cb4d569	SPC24 is an important component of the mitotic checkpoint machinery and its carcinogenic roles have been shown in several cancers, including @DISEASE$, @PHENOTYPICFEATURE$, and osteosarcoma.	false
+ccd576368a6efb36679ca2ad72659cc9dd432fda	This is the first report of PSEN1 mutation (Gly206Asp) with features of @PHENOTYPICFEATURE$ and a rapid progressive cognitive decline in a pathologically confirmed case of @DISEASE$.	false
+635492804aeff0e302c0f23760d5c80d844c8706	This investigation shows for the first time CA1 neuronal depopulation in a subpopulation of patients (five of eight) bearing the PS1[E280A] mutation with @PHENOTYPICFEATURE$, indicating a relation between hippocampal neuronal loss and epileptic seizures in @DISEASE$ patients.	false
+3f04391d948dc4d02cf95d38df93150d169876b8	This investigation shows for the first time CA1 neuronal depopulation in a subpopulation of patients (five of eight) bearing the PS1[E280A] mutation with epileptic seizures, indicating a relation between hippocampal neuronal loss and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+666a3c6ecbe4bf5fd0aa81dadfeb3cf8d63eb59b	Approximately 10% of cases present at an age of onset before 65 years old, which in turn can be monogenic familial AD (@DISEASE$) or @PHENOTYPICFEATURE$ early-onset AD (sEOAD).	false
+ba8a5315253c07b79c3c38904ee39f7488fdfa65	The Vineland Adaptive Behavior Scales, the Family Assessment Device (@DISEASE$), and the Brief Symptom Inventory (BSI) were administered to 60 parents of children with cerebral palsy, 34 parents of children with @PHENOTYPICFEATURE$, and 27 parents of children with limb deficiencies.	false
+85ef802092ce280e4f19257f00b815980afa8da0	We suggest that the clinical presentation in DS (prominent memory decline and behavioral symptoms, and early development of myoclonus and @PHENOTYPICFEATURE$) are similar to the clinical features associated with APP mutations that is known to have an increased A?42/ A?40 ratio, and highlight the relative lack of vascular complications associated with cerebral amyloid angiopathy in DS in comparison with those rare individuals with @DISEASE$ due to duplication APP.	false
+cac36e9e73529bdf177038652b513abf25bb9947	When age, disease duration, and MMSE scores were controlled in a logistical regression model, @DISEASE$ patients were more likely to have significant headaches, myoclonus, @PHENOTYPICFEATURE$, and pseudobulbar affect than those with NF-EAD.	false
+aa4e1f4557b6172fa7891485c039ac0f78aea134	Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cases of @DISEASE$, with some of these patients presenting cerebellar damage with amyloid plaques and @PHENOTYPICFEATURE$ with unclear pathophysiology.	false
+2f5c07b9914e616a6402b7764061ed8bed1b3b22	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, @PHENOTYPICFEATURE$, hepatosplenomegaly and cerebral calcifications), respectively.	false
+b9bc3bc890220316020dcd275b6d767d8f802cf4	We studied a 62 year-old woman with a clinical phenotype characterized by @PHENOTYPICFEATURE$, @DISEASE$, and prominent intestinal pseudo-obstruction.	false
+0740e0fa29d119c82d9ee18a1f8dd003d0448376	There are a total of five types of amyloidosis: (1) Primary systemic amyloidosis, (2) secondary systemic amyloidosis, (3) Senile amyloidosis, (4) Hereditary amyloidosis, and (5) Hemodialysis-related. Cardiovascular manifestations can be fourfold and include congestive heart failure due to @DISEASE$, @PHENOTYPICFEATURE$, autonomic dysfunction, and conduction abnormalities.	false
+700bbebb856639fe1c837e322d05e553160be17e	Conversely, @DISEASE$ and III should be excluded in patients with mitral or tricuspid valve prolapse, great vessel dilatation, and @PHENOTYPICFEATURE$.	false
+338284988b0d34ed4b66ce4ecb2c64e1a7a99fd8	We found that currently available evidence is sufficient to support the use of BNP and NT-proBNP in four cardiovascular settings outside of the @DISEASE$) evaluation of patients with suspected @PHENOTYPICFEATURE$ (HF) referred from primary care, ii) risk stratification in patients with HF, iii) risk stratification in stable coronary artery disease, and iv) risk stratification in pulmonary artery hypertension.	false
+b795c0eb528b287ab98cd00db102ddcd08354b07	Since RAS is an underlying cause of hypertension and @PHENOTYPICFEATURE$, it is important to consider the presence of RAS in patients with severe @DISEASE$.	false
+b75f44a630fcff1617d71b8c6b27152216ae3315	[Levels of the @DISEASE$ @PHENOTYPICFEATURE$ marker during the menstrual cycle].	false
+a53f4288a138bbb8753ed91c77da152802a23d89	Thus, @DISEASE$ may be a target for the elimination of @PHENOTYPICFEATURE$.	false
+d0b7f93dbc8d69fbb1d7155444c72ccbac619e4c	Higher expression of @DISEASE$ protein is found in HCC tissues,and the intensity of CAS protein expression is related closely to @PHENOTYPICFEATURE$ differentiation.	false
+2bbf4e8a615875d42c9755c8eae4a62612776791	Higher expression of CAS protein is found in HCC tissues,and the intensity of @DISEASE$ protein expression is related closely to @PHENOTYPICFEATURE$ differentiation.	false
+72cf30bd7fba5f6f30c2bd764a6a5d0e6fb4b63c	Nontumor CAS showed higher collagen content while @PHENOTYPICFEATURE$ @DISEASE$ were characterized by higher lipid, nucleic acid, protein, and glycogen content.	false
+c510f2977702aae6cde978b6368dc4f6ad27b303	Nontumor @DISEASE$ showed higher collagen content while @PHENOTYPICFEATURE$ CAS were characterized by higher lipid, nucleic acid, protein, and glycogen content.	false
+f2b43cc11f564a8d1a133c43b9b8811e7b017189	P<0.0001) and significantly increased among patients with @PHENOTYPICFEATURE$ at randomization, diabetes mellitus, stroke as the qualifying event, left-side stenosis, and if patients were treated at centers routinely using filter-type protection devices during @DISEASE$.	false
+d85b364bff8034edccfb7ff40a20fad1c349b175	Transluminal percutaneous carotid angioplasty and stenting (@DISEASE$) carries a risk of @PHENOTYPICFEATURE$, hemorrhage, or edema due to relative hyperemia and hemodynamic instability during and after the procedure.	false
+2cd94c49133178a584c45f287e0bc8d5929001d6	Cadaveric knee models were then used to test the correlation between isolated and combined ligamentous @PHENOTYPICFEATURE$ and identified @DISEASE$ deformity curves.	false
+9bdd90cd1c619dfbb7b85c9903f3ee1e263da1fd	Cutaneous angiosarcomas (@DISEASE$) are uncommon, aggressive @PHENOTYPICFEATURE$.	false
+c832a082623e47e34c3efed41cb4a57936aea489	Five randomized controlled trials concerning CAS versus CEA and 14 case series of @DISEASE$ were reviewed, and the rates of periprocedural complications of CAS including death, stroke, myocardial infarction, @PHENOTYPICFEATURE$ and bradycardia, cranial nerve palsy, major vascular injury, cholesterol crystal embolization and hyperperfusion syndrome were summarized.	false
+fef180271e7782ca001cc69f0a8f678bf214e847	Five randomized controlled trials concerning CAS versus CEA and 14 case series of CAS were reviewed, and the rates of periprocedural complications of @DISEASE$ including death, stroke, myocardial infarction, @PHENOTYPICFEATURE$ and bradycardia, cranial nerve palsy, major vascular injury, cholesterol crystal embolization and hyperperfusion syndrome were summarized.	false
+1112f38f19aa0d25517de9f4fd401c82863fe27c	Five randomized controlled trials concerning @DISEASE$ versus CEA and 14 case series of CAS were reviewed, and the rates of periprocedural complications of CAS including death, stroke, myocardial infarction, @PHENOTYPICFEATURE$ and bradycardia, cranial nerve palsy, major vascular injury, cholesterol crystal embolization and hyperperfusion syndrome were summarized.	false
+1835674aea1bef5a5dd00020961c0d52b66b9cfe	One patient in the @DISEASE$ group died due to @PHENOTYPICFEATURE$ on day 2 postoperatively.	false
+14b8c840f95f87faf62ebebadf1105b9c270e6da	@PHENOTYPICFEATURE$ and @DISEASE$ were significantly correlated in women (odds ratio?=?1.509, 95% confidence interval, 1.106-2.057,	false
+01ff1c3bb9c073266f4266f590615eb1afb79da5	Moreover, L/H(net) was found to be a significant predictor of higher-risk @DISEASE$, superior to myocardial perfusion images, transient @PHENOTYPICFEATURE$ measurements, and clinical and exercise testing variables (ROC analysis and logistic regression).	false
+81576462631726d18d872777a74b16b5b73ff741	However, the risk of cardiovascular morbidity is also related to hypercholesterolemia, @PHENOTYPICFEATURE$, hyperglycemia, hyperfibrinogenemia and obesity; all aggravate the risk of @DISEASE$ in the patient with high blood pressure.	false
+3e52888e6980d049b0509ea0feddbfd9decddbd7	The following report highlights a new relief procedure for the mental foramen using a CT double scan technique on the @DISEASE$/CAM dentures fabricated for the patient with @PHENOTYPICFEATURE$ of the left lower lip and chin during mastication.	false
+6d47df5ac889776f02eb206363be2801ae5f75e4	Perioperative mortality after RYGB appears to be affected by sex, BMI, age, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b0b73009a3f9d31e774b2a96b647e8b1948cc006	Patients with ESRD require aggressive management of traditional risk factors for @DISEASE$, which include hypertension, hyperlipidemia, @PHENOTYPICFEATURE$, and hypercoagulability.	false
+be89db8b93dd57becb120bd9a2892f0b35da4905	The impact of @PHENOTYPICFEATURE$ and rib deformity on @DISEASE$ was examined.	false
+3924030cffe3bf0e034f8735730a9d2555b87efa	Multivariate discriminant analysis identified left @PHENOTYPICFEATURE$, reversible defects, the size of perfusion abnormality, and the extent of @DISEASE$ as independent predictors of increased lung thallium uptake.	false
+572b433e8123207547d19a018961b2a3ee552f81	In the models of regression analysis, a strong association was found among patients with @DISEASE$ and sex, renal failure, @PHENOTYPICFEATURE$, number of plaques, and size of plaques.	false
+c49a7795b52247f0befa7392673299ae5eaa14b0	We initially focus on the skeletal muscle channelopathies (the periodic paralyses, @PHENOTYPICFEATURE$, @DISEASE$ and myotonia congenita).	false
+9a1f54f3da52f6a95ce9ad8a680621caf3d75cea	Adie's syndrome (@DISEASE$) and paraneoplastic sensorimotor neuropathy with @PHENOTYPICFEATURE$ (PSN CA) are extremely rare, rapidly progressive, autoimmune diseases associated with the development of antibodies against neuronal-specific Hu proteins that are abnormally expressed in small-cell lung cancer (SCLC).	false
+fe1dd7caab8c23255ec5df84b414d120208957d1	Since early treatment is important in preventing permanent @PHENOTYPICFEATURE$ and the other complications of ocular brucellosis, examination of the eyes in @DISEASE$ patients must always be noticed by clinicians working in this field.	false
+8b01a0cab3534830d807df5e92cd4a0eedcd22c1	Congenital adrenal hyperplasia (@DISEASE$) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and @PHENOTYPICFEATURE$.	false
+5f8cce0c8c9946dabca34ebe358b2795eedc645e	Twenty-one-hydroxylase deficient congenital adrenal hyperplasia (@DISEASE$) causes glucocorticoid and mineralocorticoid deficiency, hyperandrogenism and @PHENOTYPICFEATURE$.	false
+6b0b2fe18b8597036ed2f18f0a82420a5ffcc5e1	@PHENOTYPICFEATURE$ in the adult patient with congenital adrenal hyperplasia (@DISEASE$) is commonly seen, even among patients in excellent adrenal control during childhood and puberty.	false
+d0a77b975621074a75f3ed94deec012ed9c43063	We investigated seizures in 22 children with congenital adrenal hyperplasia (@DISEASE$), eight of whom had seizures associated with @PHENOTYPICFEATURE$.	false
+6ff033caf9b4ff2ca30ea7a003280e142427a65a	Severe hirsutism, virilization, early onset of symptoms, @PHENOTYPICFEATURE$, familial occurrence, and regular menses were identified as the clinical characteristics associated with late-onset @DISEASE$.	false
+6e4290e99fdd86c931bf0a4e985102eefebce059	Adolescents and adults with @DISEASE$ experience a number of complications, including @PHENOTYPICFEATURE$, obesity, infertility, impaired bone mineral density, and reduced quality of life.	false
+ae0aa84071b2c24081af3c74ad5bbcef9e503335	@DISEASE$ was suspected based on the history of precocious puberty, @PHENOTYPICFEATURE$ and a profound suppression of cortisol production by dexamethasone.	false
+6dcbd254ed3bfb6ffca507692de8b8c3f03c9dab	Adolescents and adults with @DISEASE$ experience a number of complications, including @PHENOTYPICFEATURE$, obesity, infertility, tumor, osteoporosis, and reduced quality of life.	false
+8436f44b7d9934da383822150be8dcd568ce460c	Whereas the latter mutation could be traced to the father, the exon 4 aberration represents a de novo @PHENOTYPICFEATURE$ (accounting for 1% of @DISEASE$ alleles) harbored on an unaffected allele, which was inherited from the mother.	false
+122587325f7ec2659c693e44fd99969b47c561f2	In 65 informative meioses of @DISEASE$ families, no de novo @PHENOTYPICFEATURE$ was found.	false
+0f53b28bdbe2ae96672be50adbf45037516355a9	Although the microvessel number was low in common nevi, it increased significantly in @DISEASE$ with varying degrees of melanocytic atypia (termed 'nevi with ADMA'), and these changes persisted during @PHENOTYPICFEATURE$ development.	false
+20cc7b12951a138cb23d20bd2d2b942515cea5cd	This case can be categorized as a typical example of speckled @DISEASE$ syndrome, a recently recognized phenotype characterized by a speckled lentiginous nevus of the papular type and ipsilateral neurological abnormalities in the form of dysesthesia, @PHENOTYPICFEATURE$ or hyperhidrosis.	false
+9f7146da60de3a7557f649e0055d673a2625c1e0	We report the singular case of a young adult diagnosed with two primary melanomas in the context of @DISEASE$ syndrome who presented several flares-up associated with MP in both benign and malignant melanocytic @PHENOTYPICFEATURE$.	false
+2d5901197d7e1eb8015a2ce1ac5dde90928ab80f	Melanomas in situ with features of @PHENOTYPICFEATURE$ regression and a majority of @DISEASE$ and cytological atypia also contained bFGF mrNA.	false
+5356d8137084dbc0e2fd616636e9dc3856f1c1b4	In the second family, the couple had undergone several unsuccessful pregnancies where a de novo @PHENOTYPICFEATURE$ PTPN11 c.923A>C causing @DISEASE$ was identified.	false
+f991edad72b7c7bae0ff88973e46a21c6d1ea1bb	Here, we report on a 2 month-old girl with @DISEASE$ associated with a de novo @PHENOTYPICFEATURE$ in KRAS (p.P34Q) and premature closure of the sagittal suture.	false
+62c8770d6d360d06d73ad02492b873affb96e592	We report an 11-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$, and an ultrasound depicting hypertrophy of the ventricular septum with subaortic stenosis.	false
+b34356a35036a698c594ad454aa1c40d85ee8fbd	Insulin dysregulation (ID) with basal or postprandial @PHENOTYPICFEATURE$ is one of the key findings in horses and ponies suffering from the equine metabolic syndrome (@DISEASE$).	false
+75f8f60a2cf744c77bd183b20ee075237cc585ba	Four patients among a cohort of 57 individuals with @DISEASE$ followed prospectively were identified to have objective @PHENOTYPICFEATURE$.	false
+da1518eb351cb601f50037fa9cc4a02df2e58042	Thiamine deficiency has been associated with @PHENOTYPICFEATURE$ in lake trout that lead to early mortality syndrome (@DISEASE$) in salmonine swim-up fry, and EMS-related mortality at the swim-up stage is a factor that contributes to the reproductive failure of lake trout populations in the Great Lakes.	false
+cfee2771093070c263770c793af2b28783fed178	Two daughters had lactic acidosis and @DISEASE$, mild dementia, ataxia, weakness and @PHENOTYPICFEATURE$.	false
+f583bdd9b8c31cd4cf32cd9c50bbba148aa16fd6	Eosinophilia-myalgia syndrome (@DISEASE$) is a newly recognized disorder, characterized by myalgia, weakness, @PHENOTYPICFEATURE$-like changes, and eosinophilia.	false
+e42cfde12f8b07830d3b684b23534650a4e635b0	The eosinophilia-myalgia syndrome (@DISEASE$) is a recently described systemic disorder distinguished by the development of characteristic muscle spasm, myalgia, neuropathy, and @PHENOTYPICFEATURE$-like cutaneous induration.	false
+d7f63fae805851c09e012c7e19eb040bf4da5848	The efficacy of 0.02% vitamin C (VC; l-ascorbic acid) and 0.05% beta-carotene (BC) at the rate of 1 ml/100g of body weight in amelioration of ethyl methane sulphonate (EMS)-induced genotoxicity has been studied in an Indian endemic fish, Anabas testudineus by using several cytogenetical endpoints like chromosome aberrations, micronuclei (MN) and abnormal nuclei (AN), and @PHENOTYPICFEATURE$ at 6, 24, 48, 72 and 96 h after treatment, as compared to suitable controls (distilled water (DW)-treated control for @DISEASE$ and VC-treated fish, and 1% alcohol-treated control for BC-treated fish).	false
+4b5a9c9d590c6852e3c5becd6ab5cb5c1286edf2	In horses, equine metabolic syndrome (@DISEASE$) is characterized by insulin resistance, hyperleptinemia, @PHENOTYPICFEATURE$, inflammation and usually by pathological obesity.	false
+ef087d9648cf88b3c7e1268cfeadf4265125a790	Many mutations in POLG, the gene that encodes pol ?, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, @DISEASE$ @PHENOTYPICFEATURE$ sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO).	false
+d9d1cd590f5f8fbecdedd42552d521ababa49b7f	The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; @DISEASE$ @PHENOTYPICFEATURE$ sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia.	false
+3a03aa39e6ffd5f821e10358739f3f45d5620c1b	@PHENOTYPICFEATURE$, atypical @DISEASE$, and cleft lip and palate are the principal manifestations of ectrodactyly-ectodermal dysplasia-clefting syndrome.	false
+d322ad1e29d5ea4738166dbba800a7cc826e58da	@DISEASE$ (EAD) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and oligodontia.	false
+7e2a109a95c98451bf6743f29fe0657089125b28	Hidrotic ectodermal dysplasia (@DISEASE$), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and @PHENOTYPICFEATURE$.	false
+3962071ef158e00f62a0280b321db3b6fb70e0c7	Most were male patients (44 [64%]), and most had @DISEASE$/hypohidrotic ED (42 [61%]), with the remaining having Hay-Wells, Clouston, and @PHENOTYPICFEATURE$ ED clefting syndromes and unclassified types of ED.	false
+fb38325f6bede968d1fda72e9387b7b54881ac00	Letters:Structural @PHENOTYPICFEATURE$ in hidrotic ectodermal dysplasia (@DISEASE$).	false
+c16b348e688a2bfab80610248840db6e6c679819	It is characterized by classical triad of hypotrichosis, @PHENOTYPICFEATURE$/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with @DISEASE$ and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+78f708bf335c94da410c6d9c21d652866f950cb9	@DISEASE$ is a hereditary disease with autosomal dominant inheritance and has the clinical features of dysplasia of the fingernails and toenails, @PHENOTYPICFEATURE$, and sparse or absent hair or body hair.	false
+9939ce6175b7344b0d1b1702435eaa7c10c422f2	@PHENOTYPICFEATURE$ with Metarhizium anisopliae in a patient with @DISEASE$ and immune deficiency.	false
+a5dd4cc48e3782c72cc6793a995c2d8ce73056d2	Hidrotic ectodermal dysplasia (@DISEASE$) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and @PHENOTYPICFEATURE$, which maps to chromosome 13q11-q12.1.	false
+db13d7d29a2caf811a6e39b759f960d489fe016e	@DISEASE$ (EDA) is a disorder of ectodermal differentiation characterized by sparse @PHENOTYPICFEATURE$ or missing teeth, and inability to sweat.	false
+795c41b89a630715c150ce426d796dcfd8b841ca	Agglomerative hierarchical cluster analysis showed that total DEMSS scores largely differentiated clusters of children with @DISEASE$ vs. mild CAS vs. other @PHENOTYPICFEATURE$.	false
+de6231237ce3416a033e0e63e8e3ed484f771fca	Agglomerative hierarchical cluster analysis showed that total DEMSS scores largely differentiated clusters of children with CAS vs. mild @DISEASE$ vs. other @PHENOTYPICFEATURE$.	false
+e1bf285a250fbbab35437dd31d0e5bcfc6e67acb	Comparing literacy skills in @DISEASE$ with other developmental @PHENOTYPICFEATURE$ is critical for understanding the complexity of the disorder.	false
+f6f52e9554612f2ff8a8d7d77c4f9c36f98f6506	Conclusion These results suggest that CAS, which is more generally considered a motor @PHENOTYPICFEATURE$, may have a perceptual component of @DISEASE$ related to vowel duration discrimination.	false
+b35a2e5920f4cfd2f48dca75b2b91b9dd6563ffd	Conclusion These results suggest that @DISEASE$, which is more generally considered a motor @PHENOTYPICFEATURE$, may have a perceptual component of CAS related to vowel duration discrimination.	false
+14b8c840f95f87faf62ebebadf1105b9c270e6da	@PHENOTYPICFEATURE$ and @DISEASE$ were significantly correlated in women (odds ratio?=?1.509, 95% confidence interval, 1.106-2.057,	false
+019c7e40fb6c39f559451499cfcfae3de3622698	This study compared the phonological awareness and reading development of children with @DISEASE$ and children with inconsistent @PHENOTYPICFEATURE$ (ISD).	false
+6d47df5ac889776f02eb206363be2801ae5f75e4	Perioperative mortality after RYGB appears to be affected by sex, BMI, age, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b0b73009a3f9d31e774b2a96b647e8b1948cc006	Patients with ESRD require aggressive management of traditional risk factors for @DISEASE$, which include hypertension, hyperlipidemia, @PHENOTYPICFEATURE$, and hypercoagulability.	false
+90eac8e77bc6b901a1814bff655c0cc2287eb3fd	Three children, two diagnosed with @DISEASE$ and one not diagnosed with a motor @PHENOTYPICFEATURE$, had vocal tremors.	false
+be89db8b93dd57becb120bd9a2892f0b35da4905	The impact of @PHENOTYPICFEATURE$ and rib deformity on @DISEASE$ was examined.	false
+209d8aab10d311c882bb017fd75bec3c294e5cd9	These findings imply that children with suspected @DISEASE$ may present with differences in sensory processing in addition to @PHENOTYPICFEATURE$.	false
+25a475c94136841a5c85664960b89f6ae813879b	We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from @DISEASE$ (AD HIES) because of @PHENOTYPICFEATURE$ with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels.	false
+d67dde135532894726ad7b13fa67d60ce1724df4	We describe an adult female patient with severe lung disease who was phenotypically diagnosed as suffering from autosomal dominant Hyper IgE syndrome (@DISEASE$) because of @PHENOTYPICFEATURE$ with Staphylococcus aureus, recurrent pneumonia and elevated serum IgE levels.	false
+9d8fa0e9ee7791c8c956a8952fbdf1fa3f574dff	@DISEASE$ (HIES) is a rare primary immunodeficiency characterized by @PHENOTYPICFEATURE$ with abscesses, recurrent pneumonias with pneumatoceles, and immunoglobulin E levels of >10 times the upper limit of normal.	false
+cef8386ded4aaba5996643084c2d1441c08f61c3	@DISEASE$ (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+bb33fae1e3d6fbff2312784ae20b3393e584a9b6	We hope that this report of coinheritance @DISEASE$ and @PHENOTYPICFEATURE$ will initiate further investigations to disclose other possible variations that may enhance our knowledge on gene mutations of this intriguing syndrome.	false
+bc7f0f490eeb5339baf83acbc8945cfe8f9b4aa7	To our knowledge the present study constitutes the largest field survey on phantom limb pain carried out in Europe and corroborates the high prevalence and intensity of PLP, unusual @DISEASE$ and amputation-related @PHENOTYPICFEATURE$.	false
+ef377a2a3447c0460ff2ba712b4c14eda63400a1	These include balloon cell melanoma, sebaceous carcinoma, @DISEASE$, @PHENOTYPICFEATURE$, parachordoma, tricholemmal carcinoma and clear cell squamous cell carcinoma.	false
+c1cdf0a385b1257187bdff0d9827771904920e3d	The patients exhibited the typical clinical features of @DISEASE$ with type 1 oculocutaneous @PHENOTYPICFEATURE$ (OCA1).	false
+f68418c32861e1a1a4ee5085b537c9bc755a765c	The objective was to present the first report, which describes the concurrence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3b569c88fa3257ae158ae746314f869e766e3fb3	Patients with @DISEASE$ may exhibit mental retardation, intracranial @PHENOTYPICFEATURE$, nail dystrophies and a tendency to various infectious disorders, in addition to skin and oral findings.	false
+1f1c6974ca91a0318316a000e87e6bea5856aa8b	A 40-year-old Latin American woman presented for evaluation with a 5-week history of redness, thickened skin, and itching of the knees, as well as persistent redness and @PHENOTYPICFEATURE$ of the palms and soles consistent with Papillon-Lef?vre syndrome (@DISEASE$).	false
+26a40867be64dec7616526dfe6988b41e32b6ba1	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.	false
+3d91907034ac1fdf2b33b1e65600b8f14d25a5a7	@DISEASE$ has an adverse prognosis, with early onset of @PHENOTYPICFEATURE$, obesity, hypertension, and diabetes mellitus.	false
+3aa780aeb7f5fd7ba9fe89efab951c4bf6c5cb76	Mouse experiments demonstrate that the most debilitating complication of @DISEASE$, @PHENOTYPICFEATURE$, can be rescued by topical gene therapy.	false
+1eb4aefb838b7e2898f04ce03da238c7fe60f41a	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, @DISEASE$, and Usher syndrome.	false
+b265bcf03a8cbcfa394d03bc926d6ad54c00d667	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, @DISEASE$, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, @PHENOTYPICFEATURE$, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+984a71a3635154af47b4a30251c276f2dbda214e	An unusual case of @DISEASE$ which presented with sudden @PHENOTYPICFEATURE$ in both eyes is documented.	false
+4cc7ee12941ba6b4aaab7a7eb42cc6dc1a1b9eb8	Although both probands had polydactyly and the characteristic ocular signs of @DISEASE$ on both ophthalmological examination and electro-retinography, neither of them had @PHENOTYPICFEATURE$, obesity, hypogonadism, cognitive impairment, or renal anomalies.	false
+9faf2f6d8d79ef7f44734ead2c40f7feec3e9597	In this article, which is part 2 of a two-part series, the authors review the most relevant clinical and sonographic features of arteriovenous, capillary, venous and lymphatic malformations as well as vascular malformations that are part of more complex conditions or associated with syndromes, including @DISEASE$, phosphatase and tensin homologue (PTEN) @PHENOTYPICFEATURE$ tumor syndromes, Klippel-Tr?naunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi and skeletal anomalies) syndrome, fibro-adipose vascular anomaly and Proteus syndrome.	false
+3e4afa42314f29b70956b6be95de3c9a60a84693	Subcutaneous edema detected sonographically in the forms of nuchal @PHENOTYPICFEATURE$, cystic hygroma (@DISEASE$), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+5297d1651fc162f59bc32ef1e38c993b38d1ed0d	Subcutaneous @PHENOTYPICFEATURE$ detected sonographically in the forms of nuchal edema, cystic hygroma (@DISEASE$), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+73921e805b1a93b645816de8a947a2e27455dcd8	[Voluminous parapharyngeal @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+3530c7e6bbb72c751d15d092dd87c12378d1dd06	@DISEASE$ is a rare @PHENOTYPICFEATURE$ in adults.	false
+b1327185b9ca8ffa022aee4325486324f300c015	Histopathological examination of @PHENOTYPICFEATURE$ was reported as @DISEASE$.	false
+58934d71201d63f3dac3ef361969ab2bad6d5a9e	Cervical @DISEASE$: clinical and radiological features of a rare @PHENOTYPICFEATURE$.	false
+da605da49df55fbd490c24ae62be9d34bbce4c8e	[Retroperitoneal @DISEASE$: an infrequent @PHENOTYPICFEATURE$].	false
+d3733ee980c5d05a94fbe756698f3eb7ad72b520	Ganglioneuroblastoma and @DISEASE$ are the commonest @PHENOTYPICFEATURE$.	false
+4dd06be49a77ca99e16a8afb9a77df34d94ff9bf	Mediastinal @DISEASE$: a rare and often asymptomatic @PHENOTYPICFEATURE$.	false
+0122169a62f22079e59bac188b9824b7bc6be716	@DISEASE$ is a benign neurogenic @PHENOTYPICFEATURE$.	false
+be0521e0dacd05186a5650437222f79d0eb41c40	@DISEASE$ and ganglioneuroblastoma were the commonest @PHENOTYPICFEATURE$.	false
+eec7d031866e856cc1640fb43d8f2e3090839cac	@DISEASE$ is a rare benign @PHENOTYPICFEATURE$.	false
+4ca0c9dc1063961add316638b1ce4e91172f1aa1	Computerized tomography brain @DISEASE$ @PHENOTYPICFEATURE$ volume determinations.	false
+6fc9ce481895995d1c47198f77ee3b9885526676	Thirty-five patients showed CT brain @DISEASE$ abnormalities: @PHENOTYPICFEATURE$ (twelve); widening of the subarachnoid spaces (eight); isolated dilatation of ventricular spaces (three) and with frontal periventricular hypodensity (two); dilatation of ventricular and subarachnoid spaces (nine); and a hypodense area (one).	false
+061f2ceeea74011f45b937c53e4fbb9407cf2aa7	Comparing early and late start delay time @DISEASE$ @PHENOTYPICFEATURE$ assessment in the early phase was better in 58%, less in 16% and equal in both scans in 26%.	false
+4ac354ac45caf9a5ac6a53ced5331dfd5f829fbe	Brain CT @DISEASE$: @PHENOTYPICFEATURE$-like lesion in the splenium of the corpus calosum, measuring 3.5 x 1.4 cm, with heterogeneous enhancing pattern, suggesting a primary CNS tumor.	false
+f8cfd0eec78c932bd067d581b9b59676d421022b	On the other hand, in vivo experiment demonstrated the potential of targeted theranostic system in CT-@DISEASE$ @PHENOTYPICFEATURE$ imaging as well as cancer therapy.	false
+a72cdb10283322c87ed4f08991987bd1f39aa653	Marrow @DISEASE$ abnormalities caused by @PHENOTYPICFEATURE$ replacement were present in four patients despite normal bone scans and radiographs.	false
+ca321bb11435b065daeaac1a75899f559828a8e5	Immunoscintigraphy accurately @DISEASE$ @PHENOTYPICFEATURE$ spread in 7 out of 9 patients with known ovarian cancer.	false
+5aff0636ff8051ff1a13774e5891b66be7c71f47	In four patients, despite normal bone scans and radiographs, marrow-@DISEASE$ abnormalities due to @PHENOTYPICFEATURE$ replacement were present and confirmed by needle aspiration and/or biopsy.	false
+daf235b8a7ed33d9740e991381b0bca461f56926	Eight patients with a favourably predicted outcome by CT @DISEASE$ plus serum @PHENOTYPICFEATURE$ marker but a positive positron emission tomography prior to high-dose chemotherapy, failed treatment.	false
+f11cd8c9665343821a8bd413f7dd6c86eb2ee668	According to the bone @DISEASE$ data metastatic tumor mass in G3 carcinomas was virtually equal to cancer burden in G2 @PHENOTYPICFEATURE$.	false
+c193b062c484f2957e773f17609c69583974cce0	The aim of this study was to assess whether @PHENOTYPICFEATURE$ is a feature of @DISEASE$ (GSD IIIa) in adult patients.	false
+5b71d1117cd13cad6974ad8a238afdb6857eacb2	@PHENOTYPICFEATURE$ in @DISEASE$: Fact or myth?	false
+930b720451d7524bea9ee96c78a01b34005de1c0	Null mutations in the ABHD12 gene lead to @DISEASE$, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset @PHENOTYPICFEATURE$.	false
+024eab3cf7188071d5819df604191bdf7ac55d8f	Genetic polymorphism of nonsyndromic @DISEASE$ is associated with developmental @PHENOTYPICFEATURE$ in Chinese school-aged populations.	false
+a4e2f7a13fd5e26eedd49344fa75211baea65c54	The histological similarity of the @PHENOTYPICFEATURE$ and the femoral tumor led to the diagnosis of @DISEASE$ arising in her right medial femoral condyle with metastasis to the upper lobe of her right lung.	false
+1898ef96332cb2a0590358455af23bf05250fa00	Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), @DISEASE$ (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), @PHENOTYPICFEATURE$ (1) and pineal cyst (1).	false
+95225c9154bcdde7cc0dd0f9d7dbb79365dabb58	During the natural course of idiopathic @DISEASE$, deformation of the outer plexiform layer progresses and is associated with @PHENOTYPICFEATURE$.	false
+581426d4e8ef6add75634d1d754af2f58445cf9c	These genomic tools, particularly transcriptomic analyses using DNA microarray and RNA sequencing platforms, have now become widely used in zebrafish cancer models to uncover novel biology and common molecular pathways underlying @PHENOTYPICFEATURE$, intrahepatic cholangiocarcinoma, melanoma, @DISEASE$ (ERMS), T cell acute lymphoblastic leukemia (T-ALL), Ewing's sarcoma and glioma.	false
+487482b2b53644c24c51212b373c22f7cfc0cee5	The 20 patients comprised 13 cases of idiopathic @DISEASE$, six cases in which ERM was associated with @PHENOTYPICFEATURE$ and one case of combined hamartoma of the retina and retinal pigment epithelium (RPE).	false
+a72abbae1e3328229b952337be940a942aa1c5db	An 8-year-old boy with history of @DISEASE$ resected 2 years ago presented with @PHENOTYPICFEATURE$ and elevated pancreatic enzymes.	false
+d90ccbf18288078b3cc4ccf7fff7bb85577cc5b7	Case report: selective occipital lobe @PHENOTYPICFEATURE$ and agenesis of the left lobe of the liver in @DISEASE$.	false
+248db068e7042f8dfb8f1b810b1b232d455206af	Cardiac fibrosis, @PHENOTYPICFEATURE$ and sudden death in @DISEASE$: could TGF-?1 improve the predictive accuracy of patients at risk, opening new therapeutic challenges?	false
+b8a9c0df2b3eda0ecd6a515c5065b7a2ac0a0bcf	Occlusive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0b2034bc17c3a6365dfa97a17a47c79044979cac	@PHENOTYPICFEATURE$ or conduction disorders are frequent during the course of @DISEASE$ patients.	false
+7a6830ab25c69ce2e976de2652a8012724274f0d	A case of @DISEASE$ is reported which was complicated by the development of a @PHENOTYPICFEATURE$ that needed ventricular-peritoneal shunting at the age of 4 months.	false
+4e244ab0455b4d556564e1f495e20b799aa6e166	[Internal & external @PHENOTYPICFEATURE$ with @DISEASE$].	false
+672d34d604c9499684d9862e76de67fa963d149f	We report a patient with @DISEASE$ who had progressive @PHENOTYPICFEATURE$ and hypoproteinemia.	false
+61a1ed3afbaf283d81e844350e33f95d3a988524	@DISEASE$ with progressive @PHENOTYPICFEATURE$ and hypoproteinemia.	false
+e27a608a2f00ac9b0f1f550f77172fc04164931d	@DISEASE$ (CMD) is characterized by @PHENOTYPICFEATURE$ myopathica, feeding and respiratory problems, skeletal deformities and polyhydramniosis.	false
+1522dd191d2130eab2e8897fb22839e07286aded	Steinert disease, also known as @DISEASE$, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, @PHENOTYPICFEATURE$ and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	false
+096a46e3b5ac05b1dc374e5acbdc57b789202ba7	@DISEASE$, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, @PHENOTYPICFEATURE$ and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	false
+bbabaf296b56131bca9feab0a544a0a6a631af06	@DISEASE$ occasionally shows autism spectrum disorder, epilepsy, and @PHENOTYPICFEATURE$.	false
+e0ff6c49e0f90b2bcc652e15856c01acfd47e3d6	There is limited data on heart rate turbulence (HRT) in @DISEASE$ (SSc) patients, potentially threatened with cardiac @PHENOTYPICFEATURE$.	false
+6057e5867814214e1d3a8bc3b380e47a61ece4bd	@PHENOTYPICFEATURE$ are frequent in patients with @DISEASE$ (SS).	false
+1c12eaf7e6a5ef0c7d4249a7c8a678896e461747	@PHENOTYPICFEATURE$ and microvascular damage in @DISEASE$.	false
+fabba66eef841d87511f20f25fa0e0b93a32356b	@DISEASE$ is a disorder involving oral and facial tissues, with skin hardening, @PHENOTYPICFEATURE$, deep wrinkles, xerostomia, tongue rigidity, and microstomia.	false
+bd66b3b5a0c24bf584122adcbbcd8ce01ac59249	Hypomagnesaemia and @PHENOTYPICFEATURE$ in a patient with @DISEASE$: role of proton pump inhibitors.	false
+f4ddd4474cb365ac28ef1eb37ca0bd781f06a18e	Raynaud's phenomenon and @PHENOTYPICFEATURE$ are frequent in patients with @DISEASE$.	false
+be2f575f6a769fa83869303cb73ef62cc7862c0d	@DISEASE$ (SSc) is a systemic @PHENOTYPICFEATURE$, with ambiguous pathogenesis.	false
+03f86e72529440a4fefd21f82e35ac4d14546902	[Cold-induced @PHENOTYPICFEATURE$ in @DISEASE$].	false
+1144e87006660553b9e411e216b5b2f425b44f0b	Echocardiographic identification of @PHENOTYPICFEATURE$ in @DISEASE$ and related disorders.	false
+e4ad3e1385c2175f31b7ab252510944546905143	@DISEASE$ is a disproportional @PHENOTYPICFEATURE$ featuring light pressure-induced or spontaneous pain.	false
+59250b31d5a9231520b32e29bfc57124f1c770db	In contrast to @PHENOTYPICFEATURE$, patients with @DISEASE$ have a lower risk of diabetes mellitus.	false
+7823bd830c6e9c5306eeca559aa9b5eebc7cce10	@DISEASE$ is a disproportional @PHENOTYPICFEATURE$ due to unknown pathomechanism.	false
+f5e3c96818ed61e0715c3df2511fa7f29b96f826	The high prevalence of hypothyroidism in @DISEASE$ patients could be related to the frequently observed lipedema-associated @PHENOTYPICFEATURE$.	false
+1f21bdc463bde0de39595e94e51aa2a6151f4758	The high prevalence of hypothyroidism in lipedema patients could be related to the frequently observed @DISEASE$-associated @PHENOTYPICFEATURE$.	false
+7017bb77aaeab362306428477c6ee0f237115fb0	@DISEASE$ is an entity distinct from obesity, but may be wrongly diagnosed as primary @PHENOTYPICFEATURE$, due to clinical overlap.	false
+5ec187fdaf8f3b8f2673a9b5cf044992f482e47e	@DISEASE$ is an entity distinct from @PHENOTYPICFEATURE$, but may be wrongly diagnosed as primary obesity, due to clinical overlap.	false
+2a3037c803d31d9dbb0c1052c17b2d63784f148c	Patients with @DISEASE$ (@PHENOTYPICFEATURE$) scintigraphically showed no alteration in lymphatic transport.	false
+bd8f4e55095ed34a587b7203254fd035f55c9893	@DISEASE$ differs from @PHENOTYPICFEATURE$ because it does not respond to diet and exercise.	false
+a601e769a44d97528c8d39aab50d7724dae0a21c	@DISEASE$ is a disproportional @PHENOTYPICFEATURE$ featuring frequent hematoma formation due to even minor traumatic injuries.	false
+f32488b5b67a639b6b86b3656aff2c24b13ff442	@DISEASE$ is a common but rarely diagnosed disease or frequently confused with @PHENOTYPICFEATURE$.	false
+aca18d52880127aab0cac0f5114923e368479f89	@DISEASE$ is a common, but often underdiagnosed masquerading disease of @PHENOTYPICFEATURE$, which almost exclusively affects females.	false
+cb4a8a9a61552ac692d26662f0ae24451cecb05f	Multiple regression analyses examined the relationships between GM, age of first word/phrase, and @PHENOTYPICFEATURE$ diagnostic observation schedule (@DISEASE$) scores.	false
+076f8ad2ce5f1f66a13869d03900c5a57ae47e5c	Most children with an educational classification of @PHENOTYPICFEATURE$ meet ADOS/@DISEASE$-2 criteria, but results differ by site and by ADOS version and/or recency of assessment.	false
+6678bd32a8b8349dbe196618628cd969760278f1	Most children with an educational classification of @PHENOTYPICFEATURE$ meet @DISEASE$/ADOS-2 criteria, but results differ by site and by ADOS version and/or recency of assessment.	false
+b9af25943e74928428b1901b2096a3d8aa7f52d6	Greater connectivity between these regions was related to lower @DISEASE$ (Autism Diagnostic Observation Schedule) scores (i.e., lower impairment) in @PHENOTYPICFEATURE$.	false
+fdeea6e240754fa81c3269d25dcb8673ce96e60f	In the SLI group, 41% met @PHENOTYPICFEATURE$ or autism spectrum cut-offs for social or communication domains either on the ADI or @DISEASE$ or both.	false
+8991e2113068f70bc2069068ec177cfa670651c2	@PHENOTYPICFEATURE$ was diagnosed at 24 months of age with the @DISEASE$-2.	false
+41a83742b98be409fcf72d3f7c8aec02112108f9	OXTRrisk-allele dosage was associated with more severe @PHENOTYPICFEATURE$ diagnostics observation schedule (@DISEASE$) scores only in the OXTRA group.	false
+dbcaea15b20b87b59d68bd2e26cd37fcbdeb2857	The Autism Diagnostic Observation Schedule (@DISEASE$), a standardized protocol for observation of social and communicative behavior associated with @PHENOTYPICFEATURE$, is described.	false
+18bc288f43a120205d1f6ca55dcdf9b9970d8fb7	In ASD subjects, volume asymmetry was negatively associated with @DISEASE$ and @PHENOTYPICFEATURE$ severity score symptom measures, with a subset of rightward asymmetric patients being most severely affected.	false
+3a4b8b15d1e002e995b2c1113bdc6d3ffb346093	Restricted and repetitive behaviors in toddlers and preschoolers with autism spectrum disorders based on the @PHENOTYPICFEATURE$ Diagnostic Observation Schedule (@DISEASE$).	false
+bd04054f9cf8a7157d9b6c4ace2d8de65cb3969a	In addition, we examined the relationship between FFG asymmetry and ASD severity using the Autism Diagnostic Observation Schedule (@DISEASE$) and Gotham @PHENOTYPICFEATURE$ severity scores.	false
+65568d7bd84bfba135764b3e7cfd3097b9b00274	Six outcomes associated with use of antipsychotics included: diabetes, obesity, hyperlipidemia, hyperprolactinemia, cardiovascular disease (CVD) (including hypertension, @PHENOTYPICFEATURE$, and other CVDs), and extrapyramidal symptoms (@DISEASE$) (including dystonia, akathisia, parkinsonism, and tardive dyskinesia).	false
+51009f1fca767dc9c21ce59857aa7c31347dde37	Six outcomes associated with use of antipsychotics included: diabetes, obesity, @PHENOTYPICFEATURE$, hyperprolactinemia, cardiovascular disease (CVD) (including hypertension, ventricular arrhythmia, and other CVDs), and extrapyramidal symptoms (@DISEASE$) (including dystonia, akathisia, parkinsonism, and tardive dyskinesia).	false
+2188be8ea815ffe4c1bcfded16aa7b429ae96e88	In a large population of patients hospitalized for @PHENOTYPICFEATURE$, blacks had significantly lower rates of utilization for @DISEASE$ and ICD procedures and higher subsequent mortality rates.	false
+331e3351bb3b5a43bf789d4d9c4fdd7c19090467	Pre- and postoperative electrophysiologic study (@DISEASE$), intraoperative cardiac mapping, and extended endocardial resection of scar (EER) has enabled us to identify subgroups among 94 patients who have had operation to control or prevent malignant @PHENOTYPICFEATURE$.	false
+7d2559af5a28ff996613a9d03b066bd759cc9f8f	MTWA may be considered as a first-line screening test for patients with @PHENOTYPICFEATURE$ history, in order to discriminate the high risk / low risk subgroups, prior to invasive @DISEASE$ and/or treatment.	false
+78e49812049f32204d155c97c4727619206d746d	All patients underwent electrophysiological study (@DISEASE$) with induction of sustained @PHENOTYPICFEATURE$ ICD implantation.	false
+14ab726957302fad9755dde050d0c15d4f4a970b	The EF also emerged as a predictor of induction of VT / VF: for each point increase in EF, there was a 4% reduction in the rate of sustained @PHENOTYPICFEATURE$ on @DISEASE$.	false
+75dfb71c3b36cf2a3e24644cca06f0fe90e3a523	We analyzed 75 @DISEASE$ patients with @PHENOTYPICFEATURE$ and reduced growth velocity.	false
+1306785ae67a147e9b2913dfdb428bbcacbfff0c	The aim of our study was to assess the effectiveness of the nonlinear analysis (NLA) of ECG in predicting the results of invasive electrophysiologic study (@DISEASE$) in patients with @PHENOTYPICFEATURE$.	false
+685a02f557ca2ddc7313b400b78ab1313853322a	No significant difference was observed between suppression of spontaneous @PHENOTYPICFEATURE$ on Holter monitoring and suppression of inducible ventricular arrhythmias by electrophysiologic study (@DISEASE$) in terms of the ability to predict the success of drug therapy.	false
+4079c149f226054bf71f38fdc10978684bfcba80	Patients chose between competing hypothetical scenarios characterized by improvements in positive symptoms, negative symptoms, and social functioning; incidence of weight gain, extrapyramidal symptoms (@DISEASE$), hyperprolactinemia, and @PHENOTYPICFEATURE$; and medication formulation.	false
+975c82a660cc55cf04388a1e1c2fd01e18bbbb80	The probands were ascertained for a variety of reasons: hypotonia and features of @DISEASE$, Leri-Weill dyschondrosteosis (LWD), and a family history of @PHENOTYPICFEATURE$.	false
+1c2b7e36bad922e691fe1d0488910270de8c4e4d	Our study is based on a family history interview of the parents of 59 children with SLI and of 100 matched control children, exploring the prevalence of problems related to language, reading, attention, school achievement and social communication as well as diagnoses such as attention-deficit hyperactivity disorder (ADHD), autism, @DISEASE$, dyslexia, mental retardation, @PHENOTYPICFEATURE$ and stuttering.	false
+d25de2d0ed8d964637d895b1eb7b5bc703ea804b	In addition to cranial nerve dysfunction, two had a hearing impairment, one @DISEASE$ and one a @PHENOTYPICFEATURE$.	false
+bd895517e41ef2e209b42a0e0b4acf59cb8440de	The parents/guardians filled a simple related questionnaire, then serum concentrations of @PHENOTYPICFEATURE$ necrosis factor-a (TNF-a), interleukin-1 (IL-1) and interleukin-6 (IL-6) were measured in 65 autistic, 8 attention deficit disorder, 2 children with Rett`s syndrome and 2 children with @DISEASE$.	false
+a4a2a41fe2ed61ae86b135df37957618f852aa9f	@DISEASE$ (JMML) is a distinct myeloproliferative malignancy of early childhood with a varied clinical presentation that may include failure to thrive, malaise, @PHENOTYPICFEATURE$, bleeding, pallor, lymphadenopathy, and hepatosplenomegaly.	false
+c4f1db7fb1cc815a4a53576f51fdf6b096432ffb	We describe a 32-year-old female patient with a history of systemic sarcoidosis and @DISEASE$ with recurrent, multiple, soft, @PHENOTYPICFEATURE$ and violaceous nodules on the back of her left hand.	false
+85b6d449d527169b90cdeb4e638a63c7d1c6b035	Based upon the clinical presentation and histopatholic findings the patient was diagnosed as @DISEASE$ enteropathy and treated with intravenous antibiotics and 3-4 wkly intravenous immunoglobulin infusion and he had responded poorly to gastrointestinal symptoms but the frequency of respiratory and @PHENOTYPICFEATURE$ reduced.	false
+68017ee2a89a48dde7357360f52837fa28b70b3b	Abnormal proportions (higher or lower than an interval containing 95% of our normal values) of Fc-IgA receptor-bearing T cells (TA) were found in @DISEASE$, systemic lupus @PHENOTYPICFEATURE$, ataxia-telangiectasia, and selective IgA deficiency.	false
+934ba7b5b5628d5875f4ec47ee577ce300654458	Among the 34 patients evaluated, X-linked agammaglobulinemia (XLA) (29.4%) and @DISEASE$ diseases (CVIDs) (29.4%) were the most common disorders presented with respiratory and @PHENOTYPICFEATURE$.	false
+371db5cb061523f841711691afffaabcc61b0e18	The underlying diseases motivating IVIG infusion were neurologic diseases in 35% of cases (Guillain Barre syndrome = 2, @PHENOTYPICFEATURE$ = 2, neurolupus = 1, myasthenia = 1), multiple myeloma with hypogammaglobulinemia (n = 2; 12%), @DISEASE$ (n = 2; 12%), autoimmune cytopenias (n = 2; 12%), graft versus host cutaneous disease after allogeneic hematopoietic stem cell transplantation for acute myeloid leukaemia (n = 1), anti-HLA antibodies after lung transplant (n = 1), cancer-associated thrombotic thrombocytopenic purpura-haemolytic uremic syndrome (n = 1), Kawasaki disease (n = 1) and in experimental essay (n = 1).	false
+9b3f783e2036b31b1aa380a86733cd4daddddf36	Here we report the diagnosis of CHH in a woman who presented with @PHENOTYPICFEATURE$ and a full-blown antibody deficiency, clinically resembling @DISEASE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+fbea99b0779c7ef163314920912bbefec965a049	A mother and her newborn with the characteriestic facial features, congenital dislocations and other associated @PHENOTYPICFEATURE$ of the hands, feet and vertebras associated with the @DISEASE$ are described.	false
+263b14294b43aca2f9583a3522447b0948e14348	In two children, the deformity was idiopathic, in two it was associated to @PHENOTYPICFEATURE$ and in one to @DISEASE$.	false
+982984c46eed47969fd04d64eeabb9d064bc1cae	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), @DISEASE$ (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+b5f3a21ec0598d43598223a8faaf608561172996	Further 3D examination at 36 weeks confirmed the lower @PHENOTYPICFEATURE$ and revealed facial anomalies that led to the diagnosis of @DISEASE$.	false
+ce222c25d6475de169e1680e04139cd9cf7368f8	The detection of precocious development of a capital femoral ossific nucleus in infants being screened for @PHENOTYPICFEATURE$ may warrant further evaluation for the possibility of the presence of @DISEASE$.	false
+73f935e0abf090adfeab1afdcdc1d7c37f9dfb29	Postnatal diagnosis of @DISEASE$ should be suspected in neonates with multiple @PHENOTYPICFEATURE$ following oligohydramnios.	false
+65478a714019fddfaffeaaad59d4faebcddeaf44	These include desmosterolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hemidysplasia with @DISEASE$ and limb defects (CHILD syndrome), hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$ (HEM dysplasia), and some cases of Antley-Bixler syndrome.	false
+a128f1d75fcf763db50b140d52d4223ea3a40602	@DISEASE$ (LI) is an @PHENOTYPICFEATURE$ disorder rarely associated with systemic organ involvement and development of carcinoma.	false
+37572513baf3f833c76efd2b7d22d78b41a1cf41	Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal disorders, Conradi-H?nermann-Happle syndrome and congenital hemidysplasia with @DISEASE$ and limb defects (CHILD), and at least three extremely rare autosomal recessive disorders, Greenberg @PHENOTYPICFEATURE$, lathosterolosis, and desmosterolosis.	false
+4045fbf187a5ce01245c75b7de18e26d9cbfc1eb	However, multiple cutaneous @PHENOTYPICFEATURE$ have not been previously described in people with @DISEASE$.	false
+3765eaa839fa60d76896daa774aa41c6e5ce87f0	@DISEASE$ type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, facial dysmorphism, @PHENOTYPICFEATURE$ (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation.	false
+5824135a7daadf5ed6efed478eba79d9a3c32273	In our series, clinical presentation at diagnosis were: recurrent respiratory infections in selective IgA deficiency and common variable immunodeficiency (CVID) patients, @PHENOTYPICFEATURE$ and opportunistic infections (mainly viral infections) in patients with severe combined immunodeficiency (SCID), skin abscesses (Staphylococcus aureus, Serratia spp.) and complicated pneumonia (Aspergillus spp., Rhodococcus equi) in chronic granulomatous disease, congenital heart disease and consistent phenotype in 22q11 deletion syndrome, skin abscesses and ecthyma gangrenosum in @DISEASE$ and opportunistic infections and sepsis (Pseudomonas aeruginosa) in children with X-linked agammaglobulinaemia (XLA).	false
+7a113e6c166e8ec63f60146bac6ee0e20f81e0a2	"Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (@DISEASE$) by short distal phalanx of the thumb, upper @PHENOTYPICFEATURE$ and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges.	false
+873395fa17717ccca4a8790842d55bc9c1b7dddf	Patients with associated cranial nerve palsy (including bilateral abducens palsies), orbital disease, @DISEASE$, Horner syndrome, hemiplegia, @PHENOTYPICFEATURE$, arteritis, or previous strabismus surgery were excluded.	false
+429e84eb25ee184ec198b8d3d3ac762f94379ddd	Postoperative complications included transient @PHENOTYPICFEATURE$, @DISEASE$, cholecystitis, premature atrial contractions, atrial fibrillation, and vocal cord paralysis.	false
+0f70764632c19fd202de6e840c02def76b29ff6c	We describe unexpected autopsy findings in an elderly woman with @DISEASE$ (MG) who had myocarditis of the working and conducting myocardium and coronary and renal @PHENOTYPICFEATURE$.	false
+4c3fea7287293443a963d45fbc56734da7b8cea1	@DISEASE$-associated systemic @PHENOTYPICFEATURE$ and myocarditis with involvement of the cardiac conducting tissue.	false
+2b81fd85959a7d404c999213526698fa341190a9	Intrapleural thymic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3faf714617f5eee1e8937608a6d24f3d92ba1695	Treatment of velopharyngeal inadequacy in a patient with submucous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+135b9e9ed6523d56bb6298e7ab59ca132ccdb7ba	Symptoms suggesting possible @DISEASE$ are seen in speech therapy and @PHENOTYPICFEATURE$ clinics, and often labeled "palatal insufficiency" without a more specific diagnosis.	false
+d85a2361e9afcc57007efc88b7f0b8f7f2cf3796	The search for new molecules that may influence neurotransmission systems is an open field with possible impact on several pathophysiological conditions or diseases: Alzheimer's disease, @PHENOTYPICFEATURE$ and @DISEASE$, etc.	false
+992717af08778f37b9f8960d98effbea6b2f4d90	Increasingly, these complications have been recognized as including diverse neuromuscular presentations, such as demyelinating and axonal length-dependent peripheral neuropathies, @PHENOTYPICFEATURE$ neuropathy, @DISEASE$, and myopathy.	false
+6b004eebd5f64ec5b161bd934c10da34fbafc9ff	@PHENOTYPICFEATURE$ episodes occurred in 2.3% of patients with inflammatory neuropathy, 1.2% of patients with @DISEASE$, and 1.2% of patients with all other medical diseases.	false
+90264bab3721a0f95286e46744eb7f2ac6830230	Mitochondria have a central role in the energy metabolism, and the literature suggests energy @PHENOTYPICFEATURE$ are widespread in the brains of subjects with MDD, @DISEASE$, and SZ.	false
+a0d9d153972ecbf759d2e57f6ac388ed3aad2b0b	The incidence of co-morbidities, such as diabetes, sleep apnea, hypertension, @PHENOTYPICFEATURE$, joint problems, and chronic obstructive pulmonary disease was reduced after @DISEASE$/DS.	false
+5018937faf0ef16881f028182129735a994c782e	Primary outcomes included the Bayley Score of Infant Development Version II (BSID-II), presence of deafness, @PHENOTYPICFEATURE$, cerebral palsy, @DISEASE$ and death.	false
+42185e4043ced7ec9e8ccca1384593e8dbf1a46e	SPB is also the leading cause of long-term morbidity, including neurodevelopmental handicap, cerebral palsy, seizure disorders, @PHENOTYPICFEATURE$, deafness and non-neurological disorders, such as @DISEASE$ and retinopathy of prematurity.	false
+d13ff44677b17c9508bcdc0c4afa502c6ac25ed3	Rates of PCS use, rates of @DISEASE$ (oxygen dependency at 36 weeks' corrected age), death before 2 years of age, CP and major disability (any of moderate/severe CP, developmental quotient <-2 SD, @PHENOTYPICFEATURE$ or deafness) were contrasted between cohorts.	false
+4ff11438b0749d52155af9c6d72e496f619b2996	Early gestational age increases a woman's risk of having an abnormal measured:expected FL ratio, whereas @PHENOTYPICFEATURE$ increases a woman's risk of having an abnormal @DISEASE$:FL ratio at later gestational ages.	false
+52a9df2717393455f8004de4567afab1efe4d25f	CNM included 5-minute Appearance, Pulse, Grimace, Activity and Respiration (APGAR) score of <4, neonatal intensive care unit (NICU) admission, respiratory distress syndrome, mechanical ventilation, intraventricular hemorrhage grade III/IV, necrotizing enterocolitis stage II/III, @PHENOTYPICFEATURE$, hypocalcemia, @DISEASE$, sepsis, seizures, hyperbilirubinemia, and death.	false
+d2ec218cb2e4fcdb9ee38bdf9e4c46f2b7b1d921	At 1 and 2 years, the proportion of patients requiring oral @PHENOTYPICFEATURE$ postoperatively was 39% and 34% for LAGB; 22% and 13% for RYGB; and 11% and 13% for @DISEASE$/DS (p = NS).	false
+910423458ae73c772d531cd0abba33e96ef65c90	Consequences of @PHENOTYPICFEATURE$ and steroid therapy in severe @DISEASE$.	false
+5c917f4ac715e8233e838e2397ae91d17482a45c	In our population of VLBW infants born to mothers with histological chorioamnionitis, @PHENOTYPICFEATURE$ after birth is associated with a decrease in mortality but an increase in @DISEASE$.	false
+354ac81ac193d32abd576399106dfb78455dd9de	@DISEASE$: a new case with @PHENOTYPICFEATURE$.	false
+5e932dcd5c03d895c0a07a00ea8130b06633abe0	Multiple dental and @PHENOTYPICFEATURE$ in an individual with @DISEASE$.	false
+d143222e6c556d64ef076d47170fbb68144f1877	Other features include marked hand arthropathy, @PHENOTYPICFEATURE$, hearing loss, and ocular abnormalities (myopia, abnormal vitreous, and high risk of developing @DISEASE$).	false
+beecb007a27cded74444cf83114aa911650855f3	An eight-year-old boy with trisomy 6q13----q21 is described with growth retardation, severe mental retardation, unusual facies, @PHENOTYPICFEATURE$, joint contractures and bilateral @DISEASE$.	false
+0507b082af0d43e54e570fdd6879763648f640ab	An eight-year-old boy with trisomy 6q13----q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, @PHENOTYPICFEATURE$ and bilateral @DISEASE$.	false
+6cb9c69b3a643fbbc3126374badb27436572d0d0	A dominantly inherited syndrome of myopia with hyaloidopathy, @DISEASE$, @PHENOTYPICFEATURE$ and flattening of the midface is described.	false
+340e548a0369264e1c5a79e0ec0c331dc69845bc	Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, @PHENOTYPICFEATURE$, myopia, @DISEASE$, and hearing loss.	false
+bf2822dd573839e0c8fbfdd2d76b78fb95df7259	Treatment included cryotherapy and laser therapy for @DISEASE$, repair of @PHENOTYPICFEATURE$, use of hearing and mobility aids, and joint replacements.	false
+d966679465168939705f6f699627ae85b4b26410	@DISEASE$ and @PHENOTYPICFEATURE$ recurrence have not been observed.	false
+fcec5d6181ac7d18b825c9b0bcc50309a0b46ffc	Bullous @DISEASE$ associated with @PHENOTYPICFEATURE$: case report.	false
+457cfe54980d45877af35c8aa91357744abf36f2	She was found to have several focal brain infarcts, exudative @DISEASE$, bilateral adrenal hemorrhage, @PHENOTYPICFEATURE$, hypertension and subsequently hypotension.	false
+319ecf27cb57579c1a904305fdee07ef88a9b781	Many cases variously reported as Wagner's disease, familial @DISEASE$, hyaloideoretinopathy with @PHENOTYPICFEATURE$, and the Pierre Robin syndrome probably were the Stickler syndrome.	false
+6d29e961791a37702d9c4d50d7d3c41c6fd03249	[Secondary @DISEASE$ accompanying intraocular @PHENOTYPICFEATURE$].	false
+2e30a794d943bcd13f4eabc6f4d07c591d15814b	This syndrome consists of characteristic features such as bilateral postaxial polydactyly, @DISEASE$, @PHENOTYPICFEATURE$ and hypoplastic nails and teeth.	false
+8d1b3a5f635d355c88e4afaded76b65d8d102972	@DISEASE$ (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and @PHENOTYPICFEATURE$.	false
+3b25c490ffc32cd0de0492e0a1b5ea3cc0f66d54	@DISEASE$ (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, @PHENOTYPICFEATURE$, and ectodermal and heart defects.	false
+0d830219522d90361ac691d01a718587d7ada44d	@DISEASE$ (EvC) is a ciliopathy with @PHENOTYPICFEATURE$, disproportionate short stature, polydactyly, dystrophic nails and oral defects.	false
+02dd056aadc16b3598f20238257d488e0386352b	@DISEASE$ is a rare genetic disorder, characterized by chondral dysplasia, ectodermal dysplasia, polydactyly and @PHENOTYPICFEATURE$.	false
+be0652267c0dfc3baaca3ef1ddd2fbcc8c13052f	The clinical manifestations of @DISEASE$ are short-limbed dwarfism, postaxial polydactyly, fingernail dysplasia, cleft palate and lips, and @PHENOTYPICFEATURE$.	false
+31bb8514c39519f187b970a05b15f658690687cc	@DISEASE$ and profound @PHENOTYPICFEATURE$ resulted by sequence variants in the EVC/EVC2 and TMC1 genes.	false
+6954c1cd6bbb04a4cb0696e301a3f9c295e5e100	Dental management of patients with @DISEASE$ can be complicated by the associated skeletal and @PHENOTYPICFEATURE$.	false
+10fa0ac62c101525ff9064adea97887e4b6c5624	@DISEASE$ (EVC) is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, @PHENOTYPICFEATURE$ and ectodermal and heart defects.	false
+39053b1785cef7abee65877f62fd7d279ba75507	@DISEASE$ (EVC) is a chondro-ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation and ectodermal and @PHENOTYPICFEATURE$.	false
+35e31143707e14a932c57bee5c9984ac3b2ec3f6	Ellis-van Creveld syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and @PHENOTYPICFEATURE$.	false
+3c6bbc69b3c8ececfbb4492f8446969f60b34506	@DISEASE$ (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with polydactyly, and @PHENOTYPICFEATURE$.	false
+27fb49714dda8c6e2abaad1a04bd080552986cff	@DISEASE$ (EVC) is an autosomal recessive disorder characterized by chondrodystrophy, polydactyly, ectodermal dysplasia, and @PHENOTYPICFEATURE$.	false
+e6feac4b0eba52f5cf9051d48d47109726f5dc48	Objective To observe the clinical efficacy and effect of Astragalus Granule (AG) , auricular point sticking combined with aerosol inhalation on the levels of @PHENOTYPICFEATURE$ necrosis factor-? (TNF- a), interleukin-4 (IL-4), interleukin-10 (IL-10), eosinophil cell count (@DISEASE$), and immunoglobulin E (IgE) in cough variant asthma (CVA) children.	false
+cb60dc75cb7959b3456ffd28dbfa30efadd9c6c1	The histologic response in 8 @PHENOTYPICFEATURE$ without @DISEASE$ was poor.	false
+ebd9b1731d40fad61ae560bba6ec2f39967010af	The purpose of this study was to determine if a radiolabeled murine monoclonal antibody (@DISEASE$) directed against eosinophil peroxidase would localize specifically to @PHENOTYPICFEATURE$ sites in patients with lymphomas infiltrated by eosinophils.	false
+e9e164e6593eb1738e01e4e9f882bddea15712f9	The objective of this study was to investigate single nucleotide polymorphism (SNP) in the interleukin (IL)-1? -31 T/C, IL-6 -174 G/C, @PHENOTYPICFEATURE$ necrosis factor ? (TNF-?) -308 G/A, and interferon ? (IFN-?) +874 A/T genes for their possible association with susceptibility to early onset sepsis (@DISEASE$) in Saudi newborn infants.	false
+3571e7eabf7305f26dea8555177260a2aa7ee160	A primary extraskeletal osteosarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+ec7ace0e2eb27bf7f4e1960b8c0a4310be402d4a	This Blau syndrome/@DISEASE$ patient presented with the unpainful soft swelling of the dorsal side of the wrist and ankles, as well as @PHENOTYPICFEATURE$ at the proximal interphalangeal joint that gradually appeared during their clinical course.	false
+0759c1514f341a9bd949d071a1d1cc40938eef2c	It has been observed by several institutions that the end-of-exhale (@DISEASE$) @PHENOTYPICFEATURE$ position is more reproducible than other phases of the breathing cycle, so the gating window is often set there.	false
+59977aae97b9dd25cf7e381eb694ac4aa08f9475	Animal experiments showed that acupuncture could function in (1) improving pulmonary function; (2) reducing accumulation of the peripheral eosinophile granulocytes (@DISEASE$), relieving the infiltration of inflammatory cells in the air-passage mucosa and promoting the apoptosis of EOS in the lung and air-passages; (3) down-regulating the expression of air-passage remodeling-related protein insulin growth factor-1; (4) suppressing the secretion of @PHENOTYPICFEATURE$ necrosis factor and endothelin; (5) attenuating allergic reaction; (6) regulating neuroendocrine activity; and (7) modulating intracellular second messenger activities.	false
+ae37b4c7c4ad75948c7de7c188001b6fe4e50b4d	@DISEASE$ patients with musculoskeletal conditions were 7.9x more likely to have concurrent cardiovascular and @PHENOTYPICFEATURE$.	false
+e949227e6b443e7796723160d55c1673dd9e3a40	[A case of adult-onset spike-wave stupor associated with @PHENOTYPICFEATURE$ and @DISEASE$ (HFI)].	false
+929b8c0cc94e12b6712eeb30c0f22c90ed6f1789	The patient had @PHENOTYPICFEATURE$, mental retardation, seizures, lactic acidosis and @DISEASE$.	false
+76831b42fdd3ff47ea9fe761d626ba3cb5844aae	The patient had muscle hypotonia, @PHENOTYPICFEATURE$, seizures, lactic acidosis and @DISEASE$.	false
+252251816633b6d66b7a19f4ae4c53259e52f189	A syndrome resembling Friedreich's @PHENOTYPICFEATURE$ with relapsing polyneuropathy and @DISEASE$.	false
+452f9066ffcb1e5242fede733c8d7a9f81764fb0	Report of a case with relapsing polyneuropathy and @DISEASE$ and with manifestations resembling Friedreich's @PHENOTYPICFEATURE$.	false
+ced9c23c34692a313b2d4ac55110f37c022d372c	Mutations in apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) cause X-linked @PHENOTYPICFEATURE$ (@DISEASE$, CMT4X); however, more recently a cerebellar presentation has been described.	false
+9e2fcb517db432f548d4a047ee57673733aaf0eb	@DISEASE$ (Milroy disease) is a rare autosomal dominant disease resulting from mutations of FLT4 encoding the vascular endothelial growth factor receptor-3. Patients develop @PHENOTYPICFEATURE$ of the legs and feet, resulting in chronic swelling of the lower extremities from the neonatal period.	false
+bd7b071211d5bfa9886d084bdc9730f329c9c491	To describe a patient with Meige syndrome in whom we observed the coexistence of @DISEASE$ of the lower legs, conjunctival @PHENOTYPICFEATURE$ and alopecia of the lateral third of the eyebrows.	false
+0b026799b2f29dede853ddeef68bceb9567e2d85	Persistent hereditary @PHENOTYPICFEATURE$ of the legs; @DISEASE$.	false
+6a1b736fce028af8a6e60808470825ad6823b87a	@DISEASE$ syndrome should be considered in cases of nonimmune hydrops fetalis/fetal @PHENOTYPICFEATURE$ after ruling out the more common etiologies.	false
+ff3e265fe7296a499746c45d04b231482a592923	[@DISEASE$, a frequently unrecognized form of chronic @PHENOTYPICFEATURE$; clinical study in 2 families with Meige's disease].	false
+67c88ab4701ac06c3b08c40e03150e108bc9b248	@DISEASE$: an aggressive renal medullary @PHENOTYPICFEATURE$ of childhood.	false
+8626ba8a4088f27c6a489f7479a8ff3ecba18535	Extrarenal @DISEASE$ (MRTs) are rare @PHENOTYPICFEATURE$ with a poor prognosis.	false
+99972dc2bcf26c36986766c467a1363f18bfe243	Based on these findings, the @PHENOTYPICFEATURE$ was diagnosed as @DISEASE$.	false
+2d62474b268a80651bcc3d8f93aeb7f233377c9a	@DISEASE$ have been reported in many different anatomic sites as an aggressive @PHENOTYPICFEATURE$ and usually present with a rhabdoid tumor component (a composite tumor) rather than a pure rhabdoid tumor.	false
+dcc9039078291257c15c1c5569d40d8294429e23	Rhabdoid tumors have been reported in many different anatomic sites as an aggressive @PHENOTYPICFEATURE$ and usually present with a @DISEASE$ component (a composite tumor) rather than a pure rhabdoid tumor.	false
+76eb9e36dedc6422ae91d9e3d0a8ecc6eae17313	@DISEASE$ have been reported in many different anatomic sites as an aggressive tumor and usually present with a rhabdoid tumor component (a composite @PHENOTYPICFEATURE$) rather than a pure rhabdoid tumor.	false
+796ef4fe785eb6c5725965135a7ee17efbcc80df	Rhabdoid tumors have been reported in many different anatomic sites as an aggressive @PHENOTYPICFEATURE$ and usually present with a rhabdoid tumor component (a composite tumor) rather than a pure @DISEASE$.	false
+fb8d2ceaf71f489cb78ec0d6b7e4e8c8e1451667	Rhabdoid tumors have been reported in many different anatomic sites as an aggressive tumor and usually present with a rhabdoid tumor component (a composite @PHENOTYPICFEATURE$) rather than a pure @DISEASE$.	false
+37cb3fe77fe0ab4f4fd6163d37996db0af6c7f6f	Rhabdoid tumors have been reported in many different anatomic sites as an aggressive tumor and usually present with a @DISEASE$ component (a composite @PHENOTYPICFEATURE$) rather than a pure rhabdoid tumor.	false
+5fdcb6282e2bf877346ddc8c88c99a994807c299	Cranial @DISEASE$ with marginal @PHENOTYPICFEATURE$ cystic component and extraaxial extension.	false
+b922f346ca739600e28770f832bbce0d78a8169b	@DISEASE$ are a heterogeneous family of aggressive @PHENOTYPICFEATURE$ affecting young children.	false
+fd964f59be825545b4547bdb0aa0b161dddffb14	@DISEASE$ are rare and aggressive @PHENOTYPICFEATURE$ of pediatric age.	false
+d1edbea1f31e1573f4434be818dd9fcd43c981b9	The @PHENOTYPICFEATURE$ exhibited the light microscopic features of a typical @DISEASE$.	false
+5e3813ee9d73136de3d558c4d5077beeb20d86fe	The pathological report revealed the @PHENOTYPICFEATURE$ was @DISEASE$.	false
+64257683605975fb2c000e4bd560157e4a0cd3ff	Composite rhabdoid tumors are typically adult @PHENOTYPICFEATURE$ that contain a component of rhabdoid cells, which are characteristic of the aggressive childhood @DISEASE$.	false
+a3324dbc22427547d1a8824179d6c3276d839de2	Composite @DISEASE$ are typically adult @PHENOTYPICFEATURE$ that contain a component of rhabdoid cells, which are characteristic of the aggressive childhood malignant rhabdoid tumor.	false
+8b9df27a69b385aca003246d7d2fe91d9fd24892	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, @DISEASE$ (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+40dcd853ac0f01d5b41cd0969d143db801c4b951	Clinical presentations with an isolated hyperkinetic @PHENOTYPICFEATURE$ in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (@DISEASE$, ataxia-telangiectasia).	false
+a4374ed0f1efaeefe8eb721c97c98ae0c674c147	Postmortem examination revealed severe internal @PHENOTYPICFEATURE$, and a definitive diagnosis of @DISEASE$ attributable to internal hydrocephalus was made.	false
+9d43adbe20d2357793fcee119f845823bb5a57dc	Postmortem examination revealed severe internal hydrocephalus, and a definitive diagnosis of @DISEASE$ attributable to internal @PHENOTYPICFEATURE$ was made.	false
+89d7629dc89d834182d1413dd6c63a5015c7ccdb	[Acute encephalopathy, @PHENOTYPICFEATURE$ and @DISEASE$ as the first signs of Listeria monocytogenes meningitis].	false
+4756a03e4d19b39817d067c15b373ecbe8958f24	@PHENOTYPICFEATURE$ due to panhypopituitarism and @DISEASE$ following Russell's viper bite.	false
+cff5ca6bec2af4650c95e69225b5bbe86612a9c1	A 14-year-old girl weighing 32 kg was diagnosed with suprasellar tumor causing @PHENOTYPICFEATURE$, hypothyroidism, adrenal dysfunction and @DISEASE$.	false
+6dd9810a79ad28fc4d1b4de96f4c7cebe78100cf	We present two cases of transient @DISEASE$ in preterm neonates with post-hemorrhagic @PHENOTYPICFEATURE$.	false
+3cd0cd4e4daeccdf283a6980cb160ad80e6b3318	Hypothalamic @PHENOTYPICFEATURE$ complicated by adipsic @DISEASE$ following surgical resection of a craniopharyngioma.	false
+539a851a47a26e28a243c356048d4b2977621563	Recently, @PHENOTYPICFEATURE$ was found to be associated with @DISEASE$ and was suggested to represent an independent risk factor for it.	false
+50e50bfc2819fa367ea2bb8e3235fd9cf327396a	The patient with occlusive @PHENOTYPICFEATURE$ developed a postoperative cerebrospinal fluid leak (subsequently revised), two patients developed temporary, one permanent @DISEASE$, and one of them transient hyponatremia.	false
+1f26c7195476801655aefcfac5ff395704ebb8ff	These data suggest that @PHENOTYPICFEATURE$, as described by BMI, may not be a risk factor for @DISEASE$ in all populations.	false
+0083f7d5b2fa823134633fd288de7148b0660d18	We report the case of a newborn with aHPE, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+533eca44efe3a665e3ee51d59b557e28d1543ce9	and a new congenital abnormality syndrome including @DISEASE$/microtia, poly/@PHENOTYPICFEATURE$ and caudal (genital and anal) defects (OR with 95% CI: 3.0, 1.3-27.4).	false
+a6776f6945d02aae17903978c732cde5de8de7ac	However the prevalence of some malformations such as Down syndrome, Polydactyly, @DISEASE$-microtia, @PHENOTYPICFEATURE$ and cleft palate have increased.	false
+4821b4a5a8703dd221ea16f96002b00fd4447795	Despite early dietary therapy, many patients with @DISEASE$ show a neurodegenerative disease specially evident in speech impairment and @PHENOTYPICFEATURE$.	false
+7bcb05e7b5c30032d471050fbc8f4ccc530f7cd5	However, despite early and lifelong dietary treatment, many @DISEASE$ patients go on to experience serious long-term complications including cognitive disability, speech problems, neurological and/or @PHENOTYPICFEATURE$ and, in girls and women, ovarian dysfunction.	false
+70e5c411c4407ea74570d84790429d68f008e268	We hypothesize that a deficit of UDPGal is responsible for the late onset clinical manifestations in @DISEASE$ which include ovarian failure, speech defect and @PHENOTYPICFEATURE$.	false
+ce7fb9d4c40921616af2f5ed249ed8eacb90258f	Kaposi sarcoma herpesvirus (KSHV)-associated multicentric Castleman disease (MCD) is a rare, polyclonal @DISEASE$ characterized by flares of inflammatory symptoms, @PHENOTYPICFEATURE$, cytopenias, lymphadenopathy, and splenomegaly.	false
+7cadbcc223c18c7745cfd11b598289171ac5a883	The following rules of thumb may be helpful: Radiographic opacities seen during the first week are usually due to reperfusion @PHENOTYPICFEATURE$: persistent or progressive opacities beyond the first week suggest infection or acute rejection: infection in the first month is usually bacterial, and opportunistic pneumonia is more common thereafter, nodular opacities are usually due to infection or posttransplantation @DISEASE$ but can also be due to transbronchial lung biopsy; and progressive bronchial dilatation and air trapping seen on expiratory CT are useful signs of BOS.	false
+50719586a552c51139a3315c3fa552d8ee21b573	In addition, cyclosporine has been associated with hypertension, hemolytic-uremic syndrome, increased incidence of intravascular thrombotic events, @PHENOTYPICFEATURE$, gum hyperplasia, pericardial effusion, and @DISEASE$.	false
+284eac7a90a9dbec2eb9b9e2f0ccc0a5fce657ee	The clinical characteristics were progressive cardiomyopathy with a poor vital prognosis, late onset, @PHENOTYPICFEATURE$ case, bilateral carpal tunnel syndrome, hypothyroidism, and @DISEASE$ fiber neuropathy.	false
+0342b40b30e679966fddec8a33eb3f6ec0397775	Patients with @PHENOTYPICFEATURE$ have @DISEASE$ kidneys than healthy individuals.	false
+3eb4290c95c5640fa4b7102dbd7bd171f78e8e7a	A 65 year-old woman with @DISEASE$ lymphocytic leukemia presented with subacute @PHENOTYPICFEATURE$.	false
+a4ebd166e9c7b28439b6462484675a2e7cb38af6	@DISEASE$ @PHENOTYPICFEATURE$, such as the telangiectatic lesion described in this report, comprise about 40-60% of such cases.	false
+73d9f4d6ef07b32e191eb3e06c9b65f2334e0fc1	@DISEASE$ tumor size and frontal resection were associated with an increased risk of postoperative @PHENOTYPICFEATURE$.	false
+312cfe4730799ac5a15d9119d13936914ac413f7	Mixed sclerosing bone dysplasia, @DISEASE$ stature, seizure disorder, and @PHENOTYPICFEATURE$: a syndrome?	false
+1cfcf3c12cca8e1351a9a6f7d6798100c23deb4f	Large-fiber abnormalities (weakness and @PHENOTYPICFEATURE$) predominate, whereas @DISEASE$-fiber abnormalities (autonomic and pain) are less common.	false
+b5b42ab66f93cbaa7e25bca2edbf5e3c777ac727	The long-pulse diode laser at 980 nm is effective for treating a wide variety of @DISEASE$ @PHENOTYPICFEATURE$, for deep and thick vascular lesions and leg veins.	false
+f0a65cffe730fce122ada1f1369935b501801623	Higher angiotensin-converting enzyme (ACE) activity might increase the risk of Alzheimer's disease by @PHENOTYPICFEATURE$, and subsequent development of cerebral @DISEASE$ vessel disease (CSVD).	false
+3c76b8b8b97c0f970c3e509ff706ab2e81460663	Preoperative @PHENOTYPICFEATURE$ and @DISEASE$ tumor size were independent risk factors.	false
+5516e8f57a3d3b61653f644ee4d065a095a0fa32	Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, @DISEASE$, and limb girdle muscular dystrophies; hypertrophic in Friedreich @PHENOTYPICFEATURE$, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies.	false
+a9418567c599b83e7acb6c8d4285ce94c4ff2634	Laminopathic diseases affect the distribution of the SUN-KASH complexes, and mutations in KASH-domain proteins can cause @DISEASE$ and recessive @PHENOTYPICFEATURE$.	false
+467684bb9b669cdf5b2332f8cd96c520aa174e4d	Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich @PHENOTYPICFEATURE$, and @DISEASE$), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments.	false
+0678bf20e650c69d207e99a2d5b33df165194575	This article summarizes the cardiac features seen in patients with Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy, Friedreich's @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2e801a1021f14a0c53ec80e4f4d399b1596d992c	Mutations in Nesprin-1 and 2 (also called Syne-1 and 2) are associated with numerous diseases including autism, @PHENOTYPICFEATURE$, cancer, and @DISEASE$.	false
+7d7fbea2d93cb9d73fc48dcca2d369cace7dbbd6	Mice were inoculated with implants of Glasgow osteosarcoma (n = 16 with SCN lesions, n = 12 sham-operated) or pancreatic adenocarcinoma (n = 13 with @DISEASE$ lesions, n = 13 sham-operated) tumors to determine the effects of altered circadian rhythms on @PHENOTYPICFEATURE$ progression.	false
+bd16727883a8ce049266fbc220c1a2a2d3492760	Mice were inoculated with implants of Glasgow osteosarcoma (n = 16 with SCN lesions, n = 12 sham-operated) or pancreatic adenocarcinoma (n = 13 with @DISEASE$ lesions, n = 13 sham-operated) @PHENOTYPICFEATURE$ to determine the effects of altered circadian rhythms on tumor progression.	false
+fdd631ad032f08c0e1c231e1e4d0547c97c26f37	Median OS and median disease-free survival for @PHENOTYPICFEATURE$ with @DISEASE$ involvement and N0/1 disease was 49.0 months and 51.6 months, respectively, compared to 14.2 months and 8.2 months, respectively, in patients with N2/3 disease.	false
+83ef47b60cea338e1cc1a63af266feb4c17b6705	Both types of @PHENOTYPICFEATURE$ grew two to three times faster in mice with @DISEASE$ lesions than in sham-operated mice (two-way ANOVA: P<.001 for lesion and for tumor effects; P =.21 for lesion x tumor effect interaction).	false
+e74f55ec5f781b0163aecfc9dbef2570590df2ae	Both types of tumors grew two to three times faster in mice with @DISEASE$ lesions than in sham-operated mice (two-way ANOVA: P<.001 for lesion and for tumor effects; P =.21 for lesion x @PHENOTYPICFEATURE$ effect interaction).	false
+e6c5096fccab70dfee5138d3c4742eaf1ff5f979	Both types of tumors grew two to three times faster in mice with @DISEASE$ lesions than in sham-operated mice (two-way ANOVA: P<.001 for lesion and for @PHENOTYPICFEATURE$ effects; P =.21 for lesion x tumor effect interaction).	false
+4dc8214e9d6ec11c237a0404ee468dd7ac1f3a7e	This observation shows that the @DISEASE$ is not a private syndrome, and confirms that it is due to an autosomal dominant @PHENOTYPICFEATURE$.	false
+bef381d0f25e20c24ad0170ec368c23ca96602ae	In this concise study, we report a novel missense mutation within the SLC12A1 gene, causing a severe form of ABS type I, the first to be described in Israeli Bedouins, with unusual clinical features of hypernatremia caused by @DISEASE$ and putatively related @PHENOTYPICFEATURE$ with upper airway abnormalities .	false
+b8b44e50d9e903005da2dc92784ae175a0cf1f18	Aquaporin 2 mutations cause @DISEASE$; increased aquaporin 2 activity is implicated in the pathophysiology of @PHENOTYPICFEATURE$, cirrhosis, and nephrotic syndrome.	false
+259304bdc4a3a66f73b89049e2536e7c986ebd9b	Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked @PHENOTYPICFEATURE$ with @DISEASE$.	false
+4af2fc1d19adef8b2b5274a282f3f61cbee178a6	Modulation of AQP function is desirable in several pathophysiological situations, such as @DISEASE$, Sj?gren's syndrome, Meni?re's disease, @PHENOTYPICFEATURE$, or tumors to name a few.	false
+dd70a5c45ab3ba2182ae60bea6adacae92d015c8	Clinical manifestations of AmB nephrotoxicity include renal insufficiency, @PHENOTYPICFEATURE$, hypomagnesemia, metabolic academia, and polyuria due to @DISEASE$.	false
+c89946563f0b885aee14a62568d9ebeebfc39f5f	Clinical manifestations of AmB nephrotoxicity include renal insufficiency, hypokalemia, @PHENOTYPICFEATURE$, metabolic academia, and polyuria due to @DISEASE$.	false
+fec3db779832829195f9dd06e6ee575955ff8953	@DISEASE$ in a female infant with @PHENOTYPICFEATURE$.	false
+3e4b998c1a67101a41d33398c901ada8a4f588fb	Disregulation or malfunctioning of AQP2 can lead to severe diseases such as @DISEASE$, @PHENOTYPICFEATURE$, liver cirrhosis and pre-eclampsia.	false
+250ebace81e1d10ad434cdb26f9f386c032dae7d	In the collecting ducts, antibiotics can cause a diverse range of disorders, including hyponatremia, @PHENOTYPICFEATURE$, hyperkalemia, renal tubular acidosis, and @DISEASE$.	false
+b1c315dd6327c38c3961796eca003a71208eacce	We report on 4 children from 2 unrelated families who appear to have the lethal ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of @DISEASE$ and cerebral anomalies, including @PHENOTYPICFEATURE$.	false
+6212039740e78c07d63e879e1edc66cd191ea59a	Central diabetes insipidus (CDI) can arise as a consequence of resultant hypothalamic dysfunction from @PHENOTYPICFEATURE$ and must be distinguished from @DISEASE$ (NDI) by exogenous vasopressin response.	false
+8d4986f8b7f93808ae71d62fa04ffcab42234734	The discovery of NLRP3 gene mutations in autoinflammatory diseases such as @DISEASE$ has led to the association of NLRs in the pathogenesis of many non-microbial diseases that include arthritis, neurodegenerative disorders, metabolic disorders (@PHENOTYPICFEATURE$ and diabetes), cardiovascular disease (atherosclerosis, myocardial infarction), inflammatory bowel disease, kidney disease and hypersensitivity dermatitis.	false
+26d0c693b69c7db2486361e0895a7d9908f9ad88	We describe the case of a 12-year-old boy with @DISEASE$ associated with an abdominal @PHENOTYPICFEATURE$.	false
+376700e4169260a582ad233bf09f43e326bd4d01	The syndromes include @DISEASE$, Peutz-Jeghers syndrome, and the PTEN hamartoma @PHENOTYPICFEATURE$ syndrome.	false
+3f0c342b5ba36f0f9cb04009127c50bd365a68c7	Juvenile polyposis syndrome (@DISEASE$) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of @PHENOTYPICFEATURE$ in these tissues.	false
+dc147c1c9527c9537b83674a9429d5934dddf931	@DISEASE$ (JPS) is an autosomal dominant cancer predisposition syndrome characterized by congenital anomalies, hamartomatous polyps in the gastrointestinal tract, and the development of @PHENOTYPICFEATURE$ in these tissues.	false
+ca30c0401d57c637a75e70625a3740effec0a1df	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral @PHENOTYPICFEATURE$, and @DISEASE$ was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+f41d3de56b0c5c9b7756415df7d9f7ed0e9249e5	HPS include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (@DISEASE$), and phosphatase and tensin homolog hamartomatous @PHENOTYPICFEATURE$ syndromes (PHTS).	false
+931ae4f5fef915e549ec8a95fc99f5449d284bc1	HPS include Peutz-Jeghers syndrome (PJS), @DISEASE$ (JPS), and phosphatase and tensin homolog hamartomatous @PHENOTYPICFEATURE$ syndromes (PHTS).	false
+6cff50e7cfa7e4ab19d026f4cfa844187824dc8b	Colorectal @PHENOTYPICFEATURE$ in @DISEASE$ or juvenile polyps.	false
+b0622482ce47b0e3ae6cb941a785079921ac3b59	This type of @PHENOTYPICFEATURE$ was not previously reported in association with @DISEASE$, 10q23 microdeletion syndrome, or infantile polyposis.	false
+3846e8fb0ee9a69e403417ba16287efc401d6406	There is increased risk of gastrointestinal @PHENOTYPICFEATURE$ in patients with @DISEASE$, but the molecular mechanisms are not known.	false
+2e22bc7c17bc2a2de5e0275d5e2f055eb4582c9a	Juvenile polyps occur in several Mendelian disorders, whether in association with gastrointestinal cancer alone (juvenile polyposis syndrome, @DISEASE$) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) in association with developmental abnormalities, dysmorphic features, or extraintestinal @PHENOTYPICFEATURE$.	false
+01ec5e33ec1a2668a83556d90196e26aae10f435	Juvenile polyps occur in several Mendelian disorders, whether in association with gastrointestinal cancer alone (@DISEASE$, JPS) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) in association with developmental abnormalities, dysmorphic features, or extraintestinal @PHENOTYPICFEATURE$.	false
+df6937038bd012ce0853759aa68daf026758649d	It is also a gene for @DISEASE$ @PHENOTYPICFEATURE$ predisposition syndrome.	false
+e857c320993b66c74eb0a8ee16c3f4873cab65bd	In this study, TCRalphabeta and TCRgammadelta-positive @DISEASE$ mice (homozygous TCRa and TCRd-gene knockout mice) and the background wild-type mice were administered azoxymethane, and the formation of macroscopic @PHENOTYPICFEATURE$ and microscopic aberrant crypt foci in colorectal mucosa were compared among the three types of mice.	false
+f4beff8e92c80975504133ceb84175268b7a4417	Chemotherapy of human @PHENOTYPICFEATURE$ in @DISEASE$ mice.	false
+e46c0489b40952f2a2c28ec29a14d1ed4e1c7983	The effect of @DISEASE$ on @PHENOTYPICFEATURE$ induction and growth.	false
+7bb24d65d339ece7711d9b1b8726ba067dd46f0f	We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, @PHENOTYPICFEATURE$ and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of @DISEASE$, a suspected ciliopathy.	false
+3d8c2510ef67a4e89e0f0771d733b300222e5251	Inherited mutations of ATRX cause syndromal @PHENOTYPICFEATURE$ (ATR-X Syndrome) whereas acquired mutations are associated with myelodysplasia, acute myeloid leukemia (@DISEASE$ syndrome), and a range of solid tumors.	false
+ab2201994480a939e6a6debaee91564d4e914840	Of the rBO children in remission, 48.4% had @PHENOTYPICFEATURE$ symptoms, medication use and/or BHR compared with 26.7% with @DISEASE$ asthma (p<0.001).	false
+8be5ef294bfc2c53b9c47e3f07b8eaad535a9c04	The most prevalent @PHENOTYPICFEATURE$ were excessive transverse ridging of the occlusal surface, the presence of diastemas and third @DISEASE$ dental overgrowths (M3DO) in cadaver heads.	false
+297ea8d15ab3ca3503e469a8fd2c3ac5f157aa0b	Mild cognitive impairment is often a precursor to dementia due to Alzheimer's disease, but many patients with mild @PHENOTYPICFEATURE$ @DISEASE$ develop dementia.	false
+6c6cdd48d18d6b449ccb921e5dde00567c2cccfb	Signs or symptoms of @PHENOTYPICFEATURE$ @DISEASE$ occurred.	false
+24c03b5ff09689ac433702492e1c62872550e8f2	Although other auto-inflammatory disorders such as, Blau syndrome, Muckle-Wells syndrome, and Behcets disease have been associated with various forms of uveitis, Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis has @DISEASE$ been reported to be associated with any type of @PHENOTYPICFEATURE$.	false
+197089cd1a1342feef80f477669397f8f1450e3f	At age 16 years BHR, assessed by metacholine bronchial challenge, and airway inflammation, assessed by FE(NO), were compared between the groups of asthma with or without the two comorbidities, to a reference group with no @DISEASE$ @PHENOTYPICFEATURE$, and subsequently stratified by gender.	false
+b84c761bfb65fcc2f16920b327b1b61744452fdc	A clinically functioning @DISEASE$ presenting with @PHENOTYPICFEATURE$, ovarian hyperstimulation and fibromatosis.	false
+beb15f9298af41ef81f22b937745d89cdf513472	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-@DISEASE$.	false
+4bb947da8b521cbbae6bc2763d18284f754fb59c	Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or @PHENOTYPICFEATURE$; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-@DISEASE$ (n = 1).	false
+c833a277f3a8aceacc911f6bedd3c7e565efcaa0	The malformations included: anencephaly (22), severe hydrocephaly (4, one with a @PHENOTYPICFEATURE$), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-@DISEASE$ type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I).	false
+ebc496759c9dc253e15cf5bb8abc146547193396	The second case of @DISEASE$ (congenital total permanent alopecia, psychomotor epilepsy, @PHENOTYPICFEATURE$ and pyorrhea) is described in a Hungarian boy.	false
+56bd5fcd10062abadddbb42118de13a85b966620	They include genetic conditions like the epidermal nevus syndrome, the @DISEASE$, Fabry disease and others, as well as certain inflammatory disorders like @PHENOTYPICFEATURE$ lupus, Bechet disease.	false
+9d01343775efb13db6d104c0ab9657bcc505b954	@DISEASE$ and @PHENOTYPICFEATURE$ in a Dutch man after a trip to Gambia.	false
+226cc17d9dfddcbaf7fdd81ee68c65c2c0cb4a66	By univariate analysis, the following clinical features are associated with septicemic melioidosis: male patients; age below 45 years; underlying diabetes mellitus or @PHENOTYPICFEATURE$; pulmonary infection, impending respiratory failure and multiorgan involvement, while abdominal pain and urinary tract infection were more common in non-@DISEASE$ septicemia.	false
+ba256af2d2e3fd396ac0050fd1c19661912c10d4	Results in our patient 2 years after correction demonstrate that @PHENOTYPICFEATURE$ release in @DISEASE$ can be accomplished effectively, with improvement in both function and appearance.	false
+5052ff03551f08393b5aa2e5deaa0081df6f50c6	@PHENOTYPICFEATURE$ repair in @DISEASE$.	false
+df1fa6af662cf2c05decc6b5b5628a29e4c9f1f0	@DISEASE$ (EDMD) is a genetically heterogeneous muscular disease that presents with @PHENOTYPICFEATURE$, joint contractures, and cardiomyopathy with conduction defects.	false
+0b0a17e12760e6ee8249ecc9b18fe28703f7d2c8	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a genetically heterogeneous muscular disease that presents with @PHENOTYPICFEATURE$, joint contractures, and cardiomyopathy with conduction defects.	false
+5b6e636a212c63284328875b42c981537c1ef560	Diagnoses included Duchenne muscular dystrophy (n=25), Fukuyama @PHENOTYPICFEATURE$ (n=2), and @DISEASE$ (n=1).	false
+868c1e1062b451347edc94cf3faf3774b5533d12	@DISEASE$ should therefore be considered in the differential diagnosis of cases of early onset @PHENOTYPICFEATURE$, even in the absence of the typical clinical features.	false
+f856250666a0c080c25ca7faa8c84178655c56fa	@DISEASE$, caused by EMD gene mutations, is characterized by humeroperoneal @PHENOTYPICFEATURE$, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms.	false
+2ca3afc48ba01aab7abf11fd0495c859fedb6f0e	@DISEASE$ (EDMD) is a hereditary myopathy characterized as triad of @PHENOTYPICFEATURE$, joint contractures, and conduction cardiomyopathy.	false
+256312fa8e5754c2f16582248e7405d0a4da0db9	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a hereditary myopathy characterized as triad of @PHENOTYPICFEATURE$, joint contractures, and conduction cardiomyopathy.	false
+c566302377b51a1e6450b29fc5f9f37511bca611	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a common form of @PHENOTYPICFEATURE$ frequently involving cardiac muscle, thus leading to dilated cardiomyopathy.	false
+ea59e8b04d01d8a780937d287055188bf074d473	@DISEASE$ (EDMD) is a common form of @PHENOTYPICFEATURE$ frequently involving cardiac muscle, thus leading to dilated cardiomyopathy.	false
+e38da241a3a5ad162c31f9a5fd67584e2dd7ef62	@DISEASE$ is a @PHENOTYPICFEATURE$ where joint contractures and spinal limitation occur before any overt muscle weakness, and the syndrome may be combined with serious cardiac pathology.	false
+c03c3c6bc1a74dc0b36e598fca03a40415ffa4f6	Gene localizations are known for @DISEASE$, facioscapulohumeral muscular dystrophy, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive muscular dystrophy and Fukuyama @PHENOTYPICFEATURE$.	false
+548e7f7673a26a17546724ba16bf6972cd4a3d24	Gene localizations are known for @DISEASE$, facioscapulohumeral muscular dystrophy, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive @PHENOTYPICFEATURE$ and Fukuyama muscular dystrophy.	false
+84005ba1a00a5b6687fc71907b0ffdcf081b2af2	Despite the apparent lack of uveal pigmentation, patients with oculocutaneous @PHENOTYPICFEATURE$ can develop @DISEASE$.	false
+66e2e924ecfc2411aa54b6c797ff6c09b8f5dfb5	Commonly accepted indications for referral include @PHENOTYPICFEATURE$ and chondrosarcoma, @DISEASE$, and solid tumours in children and adolescents who have the greatest risk for long-term sequelae.	false
+bf47fae05ff6cda3ea0a258443bbf3fa65114e6e	@DISEASE$ is a rare congenital @PHENOTYPICFEATURE$.	false
+5ee5a4d1cad1999d543743b092aea8b82b1e94b7	Expanding occult intrasacral meningocele associated with @DISEASE$ and multiple @PHENOTYPICFEATURE$.	false
+0623ae743023ab89b2a7520191b678486c52497a	Formation of syrinx cavity within the hemicord, @PHENOTYPICFEATURE$ and lipomas is known to be associated with @DISEASE$.	false
+c6a5bdbdb34059e61966af8e648663e513e89084	Caudal regression syndrome with @DISEASE$, multiple @PHENOTYPICFEATURE$, and rotoscoliosis in an adult.	false
+081bd8f0808b4ae3cc9df1637c1ec6c34ab36d66	In 1994 there was a single report of a girl with TAR syndrome and @PHENOTYPICFEATURE$ and corpus callosum and in 2003 another case of @DISEASE$ with cerebellar dysgenesis has been reported.	false
+d2ceaa2d75186675e279c46a3c62c071ba985080	In 1994 there was a single report of a girl with @DISEASE$ and @PHENOTYPICFEATURE$ and corpus callosum and in 2003 another case of TAR syndrome with cerebellar dysgenesis has been reported.	false
+9d1a9abb8b0a26eab7c506bb77c279665a5169db	An abortive type of @DISEASE$ virus infection with @PHENOTYPICFEATURE$, headache and other general symptoms of infection is presented.	false
+a8be91902e923024ead3a71b5461ea39a31f7980	We describe severe @DISEASE$ in a patient who presented with @PHENOTYPICFEATURE$ and altered mental status after a tick bite and a specific antibody response to TBE.	false
+84ba10be660d758f144244e939496db4cf3b3f3d	Two unrelated individuals presented with severe hypotonia, bradycardia, respiratory insufficiency, and heart failure; two sisters showed antenatal @PHENOTYPICFEATURE$, @DISEASE$, and epileptic encephalopathy.	false
+9ba5e50a956b4006372a141203678484ef93bbcd	The therapeutic effects of dexamethasone treatment in @DISEASE$ may be mediated, at least in part, by reduced production of pulmonary @PHENOTYPICFEATURE$ necrosis factor.	false
+7aa51d644cc2bed5b3d41ce8dd0188188292e295	The indications included diffuse pulmonary infiltrates in the immunocompromised patient, severe @DISEASE$, @PHENOTYPICFEATURE$, and lung transplant.	false
+c1c0e959f28bb42125216a056792669d272ff484	Among the 39 cases with identified etiologies, inherited metabolic diseases were on top of the list, including 6 kinds and 27 cases in total, i.e., @DISEASE$ (NICCD, 21 cases), transient galactosemia, tyrosinemia type I, galactose kinase deficiency, ornithine carbamoyl transferase deficiency and glycogen storage disease type I, followed by acquired causes (7 cases in total), such as total parenteral nutrition associated cholestasis (TPNAC), congenital syphilis and CMV hepatitis; and then biliary tract malformation (5 cases in total), including @PHENOTYPICFEATURE$, Caroli's disease and gallbladder polyp, were the third.	false
+26a61026063b942b50f4f860c66e4d680bf3574e	As a proof of concept, the analytical method was applied to patients with neonatal intrahepatic cholestasis caused by citrin deficiency (@DISEASE$), @PHENOTYPICFEATURE$ (BA), and necrotizing enterocolitis (NEC), and distinct bile acids profiles were demonstrated.	false
+c605680b294d97b5c5dbf03ac38a8ba51fa7c009	As a proof of concept, the analytical method was applied to patients with @DISEASE$ (NICCD), @PHENOTYPICFEATURE$ (BA), and necrotizing enterocolitis (NEC), and distinct bile acids profiles were demonstrated.	false
+4ad2ddfb142d6cf32905c596537aea26c48ac0f9	Stress cardiomyopathy (SCM) also referred to as the "@DISEASE$" is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac @PHENOTYPICFEATURE$.	false
+bbfedca5e28f1d3c78913141f39cf76268b7c581	@DISEASE$ (SCM) also referred to as the "broken heart syndrome" is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac @PHENOTYPICFEATURE$.	false
+a9ec130b904b5973a92d0d314083c0eeb1cb7302	Exclusion criteria were age?<?70?years, severe aortic stenosis, myocardial infarction <30?days, @DISEASE$, @PHENOTYPICFEATURE$, sepsis, active neoplastic disease.	false
+10173053630af87eadfcc546a3cbb93fc49c2349	[Postoperative @DISEASE$ caused by an ectopic paraganglinoma after gastric submucosal @PHENOTYPICFEATURE$ resection].	false
+23334b6db2abc29db58c7cbf556d5aca080e8048	These @PHENOTYPICFEATURE$ can present as transient, reversible cardiomyopathy similar to @DISEASE$ (TCM).	false
+f431d85283fd4772e884f2a5e59e9f6d7731e8bb	To our knowledge, this is the first published report of multiregional @PHENOTYPICFEATURE$ embolizations except for cerebral artery and @DISEASE$ in patients with left atrial myxoma.	false
+0f7094f524a69a7697c492f7871443ecea7fb781	@DISEASE$ has been described across a wide variety of hyperadrenergic states; the description of the reverse-type Takotsubo cardiomyopathy in the setting of embolization of recurrent neuroendocrine with serotonergic positivity @PHENOTYPICFEATURE$ is novel.	false
+7a99cdf38e36214cc830c9ddf0f4d8bbfe88abdb	Takotsubo cardiomyopathy has been described across a wide variety of hyperadrenergic states; the description of the reverse-type @DISEASE$ in the setting of embolization of recurrent neuroendocrine with serotonergic positivity @PHENOTYPICFEATURE$ is novel.	false
+85cd4c65063f569e6d15c879cf6cd93a6042df58	@DISEASE$ reflects merely a single aspect of a much wider range of neurocardiogenic injury, which encompasses cardiac dysfunction associated with subarachnoid hemorrhage, intracranial hypertension and @PHENOTYPICFEATURE$.	false
+726933c84c34cf4de0d120f7c43c0f0f120cb7ed	We encountered an 80-year-old woman with an ectopic paraganglioma of the bladder who developed @DISEASE$ after gastric submucosal resection performed for an unrelated @PHENOTYPICFEATURE$.	false
+a02bb3e2ad8e6fe7362559532446527f839d9e59	@DISEASE$ (TTS) is characterized by acute heart failure with a distinctive regional left ventricular @PHENOTYPICFEATURE$ profile.	false
+c20b41bdec0c59ee688421de129c9829fbb72ea3	The case confirmed that @DISEASE$ could be the first manifestation of @PHENOTYPICFEATURE$ secreting catecholamines and that pheocromocytoma should be considered in patients with hypertension and acute stress-induced cardiomiopathy without evidence of acute coronary disease and with negative coronarography.	false
+7252a64541c02eb8876d37e2eb09647a6557a328	X-linked recessive @DISEASE$ (XLMTM) is a severe neonatal neuro-muscular disease characterized by @PHENOTYPICFEATURE$, hypotonia, and respiratory problems.	false
+858622aa490e2011594cdad1de65d059dfaf27e5	X-linked recessive @DISEASE$ (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by @PHENOTYPICFEATURE$, hypotonia, and respiratory problems.	false
+1894397ecf18e381dee316f73d1e81116f676117	Mutations in specific myotubularins result in @DISEASE$ and Charcot-Marie-Tooth peripheral neuropathy; and loss of PTEN function through mutation and other mechanisms is evident in as many as a third of all human @PHENOTYPICFEATURE$.	false
+d5cad877cbd3218324627d07a618b47fcb2906f2	This severe perinatal form of @DISEASE$ has to be considered in male fetuses and newborns with polyhydramnios and respiratory failure due to @PHENOTYPICFEATURE$ or in infants who died of unexplained postnatal asphyxia.	false
+857e0d652a04c056cd39c82cd810850e1333ee10	@DISEASE$ (CNMs) are a subtype of congenital myopathies (CMs) characterized by @PHENOTYPICFEATURE$, predominant type 1 fibers, and increased central nuclei.	false
+3a9270dfab480c790f5dba5513fa52a8426a10b1	@DISEASE$ (CNM) are congenital disorders associated with @PHENOTYPICFEATURE$ and abnormally located nuclei in skeletal muscle.	false
+7e61dc5547305affa571af27ac179ca4fb55711e	Tumor location, pathologic N stage of the @PHENOTYPICFEATURE$, number of metastatic lymph nodes, diameter of metastatic lymph node and the presence of @DISEASE$ were significantly associated with ECS (P < 0.05).	false
+83c988836eba9c37365f9f6a6ab6644eae25bc47	Association of @DISEASE$, hypothyroidism and @PHENOTYPICFEATURE$.	false
+2acefd2515c1e6fc82ad75aa4a54e9bde385d22b	The long-term follow-up of a homozygous variegate porphyria patient revealed severe photosensitivity accompanied by mild @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9d724659176b87029e7196ede2e666e404a2f5c8	Dynamic pituitary testing in a female with @DISEASE$ and associated @PHENOTYPICFEATURE$.	false
+c6d778b61feef578b04d3e95cbb4a7dcaac0d7a8	We have described unilateral renal aplasia, coloboma of iris, @PHENOTYPICFEATURE$, midline anomalies, oculomotor apraxia and Moebius anomalad as features that were associated with @DISEASE$ in our group of subjects.	false
+b01ac836ac3ef7f53c5a05faff6da2b1323dd59d	[@DISEASE$ with @PHENOTYPICFEATURE$ caused by SOX10 mutation: Advances in research].	false
+f8fc6143d01ba5e985421bfaa51a8bc537dd15bc	The 7 previously reported patients with Kallmann syndrome and @PHENOTYPICFEATURE$ were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of @DISEASE$ (6/6), and were mentally retarded (4/4).	false
+d0ea37a65b7bde6d4f0671bfa243776ddde081f9	The 7 previously reported patients with @DISEASE$ and @PHENOTYPICFEATURE$ were short with height > or = 2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were mentally retarded (4/4).	false
+a42c2ea38e82fd2b71f11f5a0de112caa96ee336	@PHENOTYPICFEATURE$ in female @DISEASE$.	false
+96812d50b15ddaaac91a1b0b810263ad5276abd3	@DISEASE$ and @PHENOTYPICFEATURE$: an uncommon combination: A case report and a literature review.	false
+25409dfb642330d75abcfa424a5284885e4a485c	Loss-of-function mutations in SOX10 cause @DISEASE$ with @PHENOTYPICFEATURE$.	false
+20f66bbac84736cb6328d033a2866f504cbf7e1f	In addition, this is the first report of the association of a @PHENOTYPICFEATURE$ with @DISEASE$.	false
+faf1667c2ab26799f49f2cfcc625d61af564f015	Patients presenting with @DISEASE$ and @PHENOTYPICFEATURE$ appear to represent a distinct subgroup of patients with Kallmann syndrome.	false
+1e76c8622e967069cb796fee2722e775487cec67	Patients presenting with Kallmann syndrome and @PHENOTYPICFEATURE$ appear to represent a distinct subgroup of patients with @DISEASE$.	false
+008e23f0afe5f411f6417b53952b3a7f57d64096	@PHENOTYPICFEATURE$ in a female patient with @DISEASE$.	false
+f3ce3ba5bc014f2a88f5ab3a6dfbb89885a287d8	@DISEASE$ (KdS) is a rare genetic condition characterized by typical @PHENOTYPICFEATURE$, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level.	false
+21a41a893a8a138e8716d9926ac435bd5c87df8e	The @DISEASE$ is characterized by intellectual disability, epilepsy, @PHENOTYPICFEATURE$ and friendly behavior.	false
+679ad178f27c24292c777aafa25667d32bd664dd	The @DISEASE$ is characterised by intellectual disability, epilepsy, distinctive @PHENOTYPICFEATURE$, and congenital anomalies.	false
+16dddbe8de3cd9737538845a4c7593a5b8f1723a	Short rib dysplasia syndromes with or without @PHENOTYPICFEATURE$, osteogenesis imperfecta type II, @DISEASE$, campomelic dysplasia, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed.	false
+9b90c9c65cf1ffcafe19275510007fbaaa390772	We found that it was a non-random feature of three skeletal dysplasias and groups comprising @DISEASE$ and the chondrodysplasia punctata and short rib (@PHENOTYPICFEATURE$) groups.	false
+dd2e53979dd560abd436bd007b98b943b47d87cf	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), @PHENOTYPICFEATURE$ (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral cataract.	false
+edd9932d4b2ee934c5f313e1d31a82e34e22f93b	The BCAP31 gene is located between SLC6A8, associated with X-linked @DISEASE$, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe developmental delay, @PHENOTYPICFEATURE$ and dystonia.	false
+b1a38bb13eb6e6ec719ef3bfc715f1bde32c243d	A case of Brachman @DISEASE$ with @PHENOTYPICFEATURE$.	false
+ad279558f22f2e9ea7be5b2d64a02d33ddde24be	Septo-optic dysplasia with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9c28ce8c6e3eab7de066001fb0263d3dcc20fd61	@DISEASE$ associated with Wilms' @PHENOTYPICFEATURE$ and infantile haemangioendothelioma of the liver: report of two autopsy cases.	false
+c3f544456ec79fc8726075f17911b868e8bc0949	Including the current cases, of 65 reported cases of horseshoe adrenal gland 34 (52%) were associated with asplenia, 24 (37%) with neural tube defects, 19 (29%) with @PHENOTYPICFEATURE$, and 2 (3%) with @DISEASE$.	false
+e99514675e174c8259bf3e21c39dae338c6eabcc	Brachmann-@DISEASE$ with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the @PHENOTYPICFEATURE$.	false
+8fbc558190d3292821e5399de912ee75649b819a	microcephaly, @PHENOTYPICFEATURE$, abnormal cortical development) in patients with @DISEASE$.	false
+d05984e18043bc26b9ed2d8c41ae41212b6f80e6	Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps @DISEASE$ (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and @PHENOTYPICFEATURE$).	false
+5dec5c4de1a3d58e24168d741a244c276cd600d8	Two cases of @DISEASE$ associated with infantile haemangioendothelioma of the liver and Wilms' @PHENOTYPICFEATURE$ are reported.	false
+633736c43267a7362751e0a0520cc6b54b16065b	@PHENOTYPICFEATURE$ in a patient with @DISEASE$, encephalopathy, lactic acidosis and strokelike episodes (MELAS).	false
+071c7d00e478c875c2b0f7520999feeb6d19d704	Epileptic seizures in a patient with @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis and strokelike episodes (MELAS).	false
+ebe33ae1f9dda67119baca0ef0ad6d4d6b3f533f	Friedreich's @PHENOTYPICFEATURE$ associated with @DISEASE$: clinicopathologic report.	false
+02efb793152da81d076e28a046b05dae92000e4e	Cerebral blood flow in @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes.	false
+e173db18cb1e437caf71a3f697ecc2dd412af237	@DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.	false
+8a95a2f17a8e67ea2056bf48738e43a101c8a73b	Late-onset @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes with bitemporal lesions.	false
+c870a5616320625d40fecc57948721c9cad18ea2	The proband case had MELAS (@DISEASE$, @PHENOTYPICFEATURE$, lactacidosis, stroke) phenotype.	false
+a4aa29a9969f0458811cc7a86e58d5abca55892d	Focal hyperperfusion in a patient with @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes.	false
+1373c053c2a7e7433e6d85f42c53e54e12aa61e7	@DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes (MELAS): current concepts.	false
+57a8a07b5c2128241bdf8517acb24e065966245f	MELAS is a distinctive syndrome manifested by @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and recurrent stroke-like episodes such as seizures, alternating hemiparesis, hemianopsia, or cortical blindness.	false
+c66f4c67156e6a090eec7d99ec093d48e2729a41	MELAS is a distinctive syndrome manifested by @DISEASE$, encephalopathy, lactic acidosis, and recurrent stroke-like episodes such as @PHENOTYPICFEATURE$, alternating hemiparesis, hemianopsia, or cortical blindness.	false
+48c5458dc74fa48b63d0c11ccac1a7f540589872	A male with @DISEASE$, @PHENOTYPICFEATURE$, lactic acidemia, and strokelike episodes is reported.	false
+db80eee09bb3ceb68ed7469015434bdcd9aa03ab	On admission, leg ulcers had larger surface area (P <0.05), more @PHENOTYPICFEATURE$ (P <0.01), more granulation (P <0.05), and higher total @DISEASE$ scores (P <0.05) than foot ulcers, which had more infections (P <0.05).	false
+a14453ec706cc730862a3a6e417af4eadda21dc2	Greater attentional bias away from dental pictures among @DISEASE$ patients was associated with higher levels of fear of pain, fear of dental @PHENOTYPICFEATURE$, and stress.	false
+8808fcbbb97a78eadd9682db31960a5295ff4bb4	Abnormal gene products are most commonly detected in patients within a narrow spectrum of isolated @PHENOTYPICFEATURE$ (minimum 5%-10% of subjects), and far less commonly in isolated laterality or @DISEASE$ patients (approximately 1% for each).	false
+37388064d517675a8f87f0fee442879fe37d18ea	The results concluded that @DISEASE$ suppress recurrent @PHENOTYPICFEATURE$, and improves its associated behavioral impairments and cognitive deficit in rat model of TLE.	false
+d63043569c80762dac3c4f19ad7606b3b5175f6a	RESULTS also indicated that whereas delayed M100 is a marker for ASD severity, @DISEASE$ delay is more associated with @PHENOTYPICFEATURE$.	false
+91d09208f2bbb98a8eb7ca4912f8e936ac759b0d	The proportions of relapse, motor @PHENOTYPICFEATURE$, and mortality were significantly lower in treatments of @DISEASE$ and AZA than in NIT (all P?<?0.001), while no significant difference was found between the CS and NIT groups.	false
+313e51ca7043fa7c78dfcf0b5fedd8134f739e88	Pathologic variations in T1 signal hyperintensity may be related to clotting of blood (in hemorrhagic pituitary adenoma, pituitary apoplexy, @DISEASE$, or thrombosed aneurysm) or the presence of a high concentration of protein (Rathke cleft cyst, craniopharyngioma, or mucocele), fat (lipoma, dermoid cyst, lipomatous meningioma), calcification (craniopharyngioma, chondroma, @PHENOTYPICFEATURE$), or a paramagnetic substance (manganese, melanin).	false
+7a41fe9a0111e6b18eacccc294fff2a67112e8a5	Its deficiency causes @PHENOTYPICFEATURE$, neuronal degeneration, and @DISEASE$.	false
+6340948abc4da4bb1df16a1dbf54c838640b7de2	Individuals with BS manifest @PHENOTYPICFEATURE$, @DISEASE$, and a predisposition to cancer.	false
+633b7ded9ed0a9e8d6fbbc5fdff778f79fb6252c	[@PHENOTYPICFEATURE$, facial anomalies and @DISEASE$].	false
+cf74cd88ff92bb6f238ffc1b1ec4f6310238428b	deletion in patients with @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+540607b14c4d137dd540e07a531571a3e5972ab8	NBS is characterized by microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, and cancer predisposition.	false
+17f92135ecad0d84b04b78aef8df67bf076eac50	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, @PHENOTYPICFEATURE$, hypocalcemia, @DISEASE$, and cognitive and neuropsychiatric symptoms.	false
+f67ae824d0e737613e46304ab985ee6d63246a07	The 22q11.2 deletion syndrome (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, palatal anomalies, congenital heart defects, @PHENOTYPICFEATURE$, @DISEASE$, and cognitive and neuropsychiatric symptoms.	false
+33b0d2c3faf55bcb0b13327e001b9ecb9eb6e454	deletion syndrome have heterogeneous clinical presentations including @DISEASE$, @PHENOTYPICFEATURE$, and hypocalcemia.	false
+186fd8f0d6baa7016d1c46000d79c8513a6dc15d	It is characterized by microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ and cancer predisposition.	false
+721c66e48ef65ad08000764150f38b32067f4e7e	We report on a male with @PHENOTYPICFEATURE$ and an interrupted aortic arch, @DISEASE$, and hypocalcemia.	false
+4a9a34918db80770d92830fbab7261b98136667a	None of the patients had @PHENOTYPICFEATURE$, malnutrition, or @DISEASE$.	false
+52853e87f8963056ec8ee637e8c098df4016e07e	Mucosal, cutaneous and @DISEASE$ (EV)-related human papillomaviruses (HPVs) were searched by broad-spectrum PCR in 86 conjunctival @PHENOTYPICFEATURE$ biopsies and 63 conjunctival non-neoplastic control tissue from Ugandan subjects.	false
+19651556ec990502a02df32f573fc14956b538d4	The heterogeneity of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+f85c8b561afa38fd7b037606917917bf4da0330e	[@DISEASE$, human Papillomavirus infection, genital epithelial @PHENOTYPICFEATURE$ and possible immunodeficiency].	false
+1989130d5cc9024d2ae4c60afb24b78530a17225	Isolation of a human papillomavirus from a patient with @DISEASE$: presence of related viral DNA genomes in human urogenital @PHENOTYPICFEATURE$.	false
+5d9d06dc823aaf003c20dfa757d78d886e4004c3	Benign and malignant hybrid adnexal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+02f94d9d29a17faa354ace267f7a6c8771a4b017	Characterization of beta papillomavirus E4 expression in @PHENOTYPICFEATURE$ from @DISEASE$ patients and in experimental models.	false
+c8bea5a6037667aed60ab58a5d15f35ce68dee7c	@DISEASE$ is a rare, heritable disease characterized by an unusual susceptibility to infection with specific types of human papillomavirus and a propensity for developing malignant skin @PHENOTYPICFEATURE$.	false
+86cd4324b2c671187b25df10b66bd1d72093d1a6	Of special interest is the recently discovered association of cutaneous tumors with HPVs, previously known only for @PHENOTYPICFEATURE$ in @DISEASE$ (EV).	false
+11a0be0f2dc47c5553dab26dc88974b50fef381d	Of special interest is the recently discovered association of cutaneous @PHENOTYPICFEATURE$ with HPVs, previously known only for tumors in @DISEASE$ (EV).	false
+dc960d884f91d6e630f88413d1c8f12dea10634e	DNA of @DISEASE$ (EV)-associated human papillomaviruses (HPVs) has been widely detected in lesions of malignant skin tumours, benign @PHENOTYPICFEATURE$ and other proliferative diseases of epithelial origin.	false
+033ac6be9575ad512ad0ba2f10c4680825704861	DNA of @DISEASE$ (EV)-associated human papillomaviruses (HPVs) has been widely detected in lesions of malignant skin @PHENOTYPICFEATURE$, benign tumours and other proliferative diseases of epithelial origin.	false
+bbb04d298b699eb8b4deb276d3ea7980f2e84e77	Here we address this problem in the light of recent insights into (1) the association of low-risk ?-HPVs with skin SCCs in the rare genetic syndromes of @DISEASE$ and xeroderma pigmentosum, (2) the frequent recovery of post-transplant @PHENOTYPICFEATURE$ control on substituting calcineurin-inhibitory with mTOR-inhibitory immunosuppression, (3) the unexpectedly favorable prognosis of node-positive SCCs containing high-risk ?-HPVs originating in the activated immune niche of the oropharynx, (4) the rapid occurrence of HPV-negative SCCs in ultraviolet (UV)-damaged skin of melanoma patients receiving Raf-inhibitory drugs, and (5) the selective ability of ?-HPV E6 oncoproteins to inhibit Notch tumor-suppressive signaling in cutaneous and mesenchymal tissues.	false
+b820d52f7ffa1bc3b9ba581fb896876e75211626	Here we address this problem in the light of recent insights into (1) the association of low-risk ?-HPVs with skin SCCs in the rare genetic syndromes of @DISEASE$ and xeroderma pigmentosum, (2) the frequent recovery of post-transplant tumor control on substituting calcineurin-inhibitory with mTOR-inhibitory immunosuppression, (3) the unexpectedly favorable prognosis of node-positive SCCs containing high-risk ?-HPVs originating in the activated immune niche of the oropharynx, (4) the rapid occurrence of HPV-negative SCCs in ultraviolet (UV)-damaged skin of melanoma patients receiving Raf-inhibitory drugs, and (5) the selective ability of ?-HPV E6 oncoproteins to inhibit Notch @PHENOTYPICFEATURE$-suppressive signaling in cutaneous and mesenchymal tissues.	false
+83acd3999b775e7208ee2dbbe6e97b1a312d567b	In this article, we analyze primary and secondary osteoporosis, rickets, osteomalacia (nutritional and hereditary vitamin D-dependent, hypophosphatemic and that due to renal tubular abnormalities), renal osteodystrophy, sclerosing bony disorders, and some genetic bone diseases (hypophosphatasia, fibrous dysplasia, @PHENOTYPICFEATURE$, @DISEASE$, familial expansile osteolysis, and osteoporosis pseudoglioma syndrome).	false
+16de14fc286258c12bc2289f68406a17477a5136	Mutations in MFN2 are associated with @DISEASE$ (CMT2A), a neurological disorder characterized by a wide spectrum of clinical features, primarily a motor @PHENOTYPICFEATURE$.	false
+07bfb3c035b06d9d336b0fd09145f6d1cc94fe45	Mutations in the DSL (Delta, Serrate, Lag2) Notch (N) ligand Delta-like (Dll) 3 cause @PHENOTYPICFEATURE$ in @DISEASE$, which is consistent with a critical role for N signaling during somitogenesis.	false
+3419d54107add5ee95d4d202113fad8084f2dff4	However, unlike achondrogenesis there was an associated severe @DISEASE$ and major non-@PHENOTYPICFEATURE$, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations.	false
+33d20ba966e95b2457d805190f6f0aa5fcf4a271	Reported findings associated with @DISEASE$ include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper @PHENOTYPICFEATURE$, and neural tube defects.	false
+8eb4334a8f692af7886c8bbe26577a9af3aea62e	Underlying diseases were the following: neoplasia, infections, polytrauma, penicillin administration, nephrotic syndrome @DISEASE$, and left @PHENOTYPICFEATURE$ (1 case, each); 2 patients had no underlying disease.	false
+6bf0a8d72329c90c3920da746e9db982de57f17b	The @PHENOTYPICFEATURE$ arising in patients suffering from the @DISEASE$ represents a so far not described symptom of that illness.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+e8397d3b8c7866eac5f1204172156f6bf2b63f30	@DISEASE$ is a pregnancy-specific disorder, associated with @PHENOTYPICFEATURE$ and proteinuria, and in extreme cases it can also cause liver and kidney problems.	false
+0f6b37ff8840050d7bc883b1f731cabaa323c2a8	@DISEASE$ is a serious disorder of pregnancy characterized by hypertension, proteinuria, edema, and coagulation and @PHENOTYPICFEATURE$.	false
+390855da4648e76f0f96b2683402e79f35e14bfe	Magnetic resonance imaging has allowed us to identify posterior @PHENOTYPICFEATURE$, characterized by headache, seizures, visual disturbances and hypertension, as a frequent complication of @DISEASE$ syndrome in the perinatal and postpartum period.	false
+be20055377666c17573325a9e0c352ef2ee5e4f3	Zmpste24-deficient (Zmpste24(-/-)) mice exhibit retarded growth, alopecia, micrognathia, @PHENOTYPICFEATURE$, osteolytic lesions in bones, and osteoporosis, which are phenotypes shared with @DISEASE$, a human disease caused by the synthesis of a mutant prelamin A that cannot undergo processing to lamin A. Zmpste24(-/-) mice also develop muscle weakness.	false
+43c09209dfc85811651898e51d9459ab6b0ed764	Hutchinson-Gilford progeria syndrome (@DISEASE$) is a rare accelerated senescence disease, manifesting @PHENOTYPICFEATURE$ and several symptoms suggestive of premature aging.	false
+29a40c0d592b64614eaaf3800c5e44bccc0213e5	@DISEASE$ (HGPS) is a rare accelerated senescence disease, manifesting @PHENOTYPICFEATURE$ and several symptoms suggestive of premature aging.	false
+e92c9b233fcab757ffa72c0d92ddaa70020e4552	Hutchinson-Gilford progeria syndrome (@DISEASE$) is a rare premature aging disorder with significant oral and @PHENOTYPICFEATURE$.	false
+402511a9caca0fc384a8e970059c68de050ff6dc	@DISEASE$ (HGPS) is a rare premature aging disorder with significant oral and @PHENOTYPICFEATURE$.	false
+ae1340d5fc40b64c99cb6ce9af98ec29ace18be6	Associated abnormalities were @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d980a12028d56a97faa0332dda90ce91803d93bd	Ocular colobomata, @PHENOTYPICFEATURE$, @DISEASE$ and panhypopituitarism: a new syndrome.	false
+e026eb913e706af387c19bf4781cc8be7ac7343c	The process leading to affirmation of life with @PHENOTYPICFEATURE$ and @DISEASE$: the importance of acquiring coherence.	false
+366251231cdb8d488f13cdf48889c180a6b5ecb9	Gli3-deficient mice exhibit @DISEASE$ associated with @PHENOTYPICFEATURE$ development.	false
+77e73cfd04bc32572c249cf5855327756458355e	Mice lacking the Foxf2 gene were found to develop @DISEASE$ and an @PHENOTYPICFEATURE$.	false
+e040912ffe78f89af01db9377a7e9ad3c34ac08f	Multiple anomalies including occipital encephalocele, bilateral @PHENOTYPICFEATURE$, cleft lip, @DISEASE$, and polydactyly were also detected in the obstetric ultrasonography.	false
+4a08b30b55c7dee4b879b4c49e8848e668dd4dbf	Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, @DISEASE$, and @PHENOTYPICFEATURE$ were also detected in the obstetric ultrasonography.	false
+7397d7aaa9aad6d88b30740ef05da464159c3718	Ick null mouse embryos displayed @DISEASE$, hydrocephalus, polydactyly, and @PHENOTYPICFEATURE$, closely resembling ECO syndrome phenotypes.	false
+8523a3b52247e67e2efb9426b24fac291a4f727e	Ick null mouse embryos displayed @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, and delayed skeletal development, closely resembling ECO syndrome phenotypes.	false
+75822eff5f6a0d182505c9ff0acd80374eadbb6e	There were 42 children with @DISEASE$ (CP) (26 girls/16 boys), 13 with unilateral cleft lip and palate (UCLP) (eight girls/five boys), eight children with cleft lip (CL)(two girls/six boys) and seven with @PHENOTYPICFEATURE$ (BCLP) (two girls/five boys).	false
+f7924e67c9ac9faa7b52a49055cb223d01b0b5b7	There were 42 children with @DISEASE$ (CP) (26 girls/16 boys), 13 with unilateral cleft lip and palate (UCLP) (eight girls/five boys), eight children with @PHENOTYPICFEATURE$ (CL)(two girls/six boys) and seven with bilateral cleft lip and palate (BCLP) (two girls/five boys).	false
+44cbfe23ac32ac4e83d77d221397597dbe32e245	Affected females have malformations of the oral cavity (@DISEASE$, lip and @PHENOTYPICFEATURE$ dentition, and hamartomas), face (hypertelorism and milia), and digits (syndactyly, brachydactyly, and polydactyly).	false
+35d5aecaf50416fd0ae3de459dbacffeba8b6255	Affected females have malformations of the oral cavity (@DISEASE$, lip and tongue, abnormal dentition, and hamartomas), face (hypertelorism and milia), and digits (syndactyly, brachydactyly, and @PHENOTYPICFEATURE$).	false
+1dd1f40b4e5abf05fd3525dbabe7e413b046d239	Micrognathia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c29cb7c4aad2246b39129dfee511ee31894ac51e	The results from the observation of 49 patients with complete and incomplete AV block are reported, 33 of them with attacks of @DISEASE$; asystolia 25, ventricular tachycardia and @PHENOTYPICFEATURE$--8.	false
+6b01c25018fd1734a6a11564a4d2ed6955b43850	@DISEASE$ has also been associated with @PHENOTYPICFEATURE$, insulin resistance, and hypertension.	false
+d7f0984c2a2f25dee3f23be487e84db87e33d692	Congenital adrenal hyperplasia (@DISEASE$) patients are at a higher risk to develop @PHENOTYPICFEATURE$.	false
+6eb174082e4f087e888a2f396f0332eae4c81c2d	Bariatric surgery was a safe and effective treatment of @PHENOTYPICFEATURE$ in this patient with @DISEASE$ and should be considered for patients with CAH and multiple obesity-related comorbidities.	false
+23bdf34e682f03e7780f8ba6834672499ba62839	Bariatric surgery was a safe and effective treatment of obesity in this patient with @DISEASE$ and should be considered for patients with CAH and multiple @PHENOTYPICFEATURE$-related comorbidities.	false
+d5f8ae8891c611f881e08603adad518684621178	Bariatric surgery was a safe and effective treatment of obesity in this patient with CAH and should be considered for patients with @DISEASE$ and multiple @PHENOTYPICFEATURE$-related comorbidities.	false
+e65df6bae6dfc8b363d4506f5d5fc4a157ca7e9a	Bariatric surgery was a safe and effective treatment of @PHENOTYPICFEATURE$ in this patient with CAH and should be considered for patients with @DISEASE$ and multiple obesity-related comorbidities.	false
+27fbefb2143ffa95032468e84333c5f0d948e439	Children and adolescents with @DISEASE$ have a higher risk of @PHENOTYPICFEATURE$.	false
+5b394630c73a22334743d5cc413345bd85a7a62e	We examined CIMT and its relationship with androgens and @PHENOTYPICFEATURE$ in adolescents/young adults with @DISEASE$.	false
+9daf72a715ce54744d0095f2083ef8ea5d0b7934	@DISEASE$ patients presented a higher prevalence of @PHENOTYPICFEATURE$ and MetS, which were not correlated with the GC treatment.	false
+5c95654f11af9ecd33d120d28325df468420e368	In @DISEASE$ patients CIMT and AIMT are influenced by androgens and @PHENOTYPICFEATURE$ independent.	false
+7f388cb8734f2b9c56618de2fdaeff9bf8a3d1bb	Additional difficulties associated with @DISEASE$, including risks of @PHENOTYPICFEATURE$ and hypertension, will be discussed.	false
+7ac0261dea33ab82cb79e584b4d304e618269827	There are few studies reporting on higher rates of overweight and @PHENOTYPICFEATURE$ among children with @DISEASE$.	false
+5818d7a939752adc18ea8c59e45325e9eee79355	Gross appearance and histologic lesions seen in 15 newborn lambs in an outbreak of congenital arthrogryposis with @PHENOTYPICFEATURE$ or hydranencephaly (@DISEASE$) in Texas are described.	false
+c2400bfb4c5486ade67ae8814f3e7e6637b795fc	@DISEASE$ is characterized by the proliferation and spreading of an abnormal corneal endothelial membrane across the iridocorneal angle and iris surface, resulting in iridocorneal adhesions, glaucoma, pupillary distortion, varying degrees of iris atrophy, and occasionally corneal decomposition with @PHENOTYPICFEATURE$.	false
+555fdd784b3e91c719daec8a8dd72942f5ebfbcf	Asymptomatic vestibular disorders are common in patients with @DISEASE$ when a @PHENOTYPICFEATURE$ is also present.	false
+14e0a4a289540d1c15839664d20ac9e852a8d737	The molecular forms of the N-terminal fragment (hNT) of proopiomelanocortin were studied in cerebrospinal fluid (CSF) from normal subjects, methadone-addicted patients, patients with @PHENOTYPICFEATURE$, and a patient with @DISEASE$.	false
+726e7de4ac18ec207f217d007e6fb4516108f9e5	The mean immunoreactive hNT (IR-hNT) levels in samples of CSF from normal subjects, patients with @PHENOTYPICFEATURE$, methadone addicts, and the patient with @DISEASE$ were 410 +/- 158 (+/- SE), 435 +/- 137, 328 +/- 183, and 85,700 pg/mL, respectively.	false
+249514051c6cd42cd842a9d3ce85aabd6bba71c3	Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic @PHENOTYPICFEATURE$ @DISEASE$.	false
+645e680b71e71dc89d28948f8b8675232c548c1e	@DISEASE$ and unilateral Wilms @PHENOTYPICFEATURE$ in a child with Beckwith-Wiedemann syndrome.	false
+2df2ccc89d9b4f8d77abeceb0cdde24dc15450fb	This article discusses the technical aspects of DWI, particularly the quantitative and qualitative interpretation of images in @DISEASE$ @PHENOTYPICFEATURE$.	false
+cbadfaf0190c2e27615a6b79e5c8016df5cc553f	Where possible, GeMRI should be used in the assessment of @DISEASE$ @PHENOTYPICFEATURE$ residual or recurrence.	false
+d89a219f48a7548eca6d59e7e95e48d3d806f2e5	Evaluate if gadolinium enhanced MR imaging (GeMRI) improves confidence, changes the final diagnosis, or improves accuracy in the assessment of musculoskeletal (@DISEASE$) @PHENOTYPICFEATURE$ residual or recurrence following surgical resection.	false
+4ab45ade84ff71372856a376293f1f0b3b92a3b0	[Renal xanthogranulomaosis simulating a @PHENOTYPICFEATURE$ of the collum associated with @DISEASE$ and so-called solitary cysts of the kidney].	false
+823bb63811207f327b552eeb438ade8e232fb5cb	Surgery for @DISEASE$ @PHENOTYPICFEATURE$: 1971-2011.	false
+6ea3c6024de97b49b3d685f4ecc4c5d70f06d22f	These include methods to depict, displace, or monitor critical structures adjacent to targeted @DISEASE$ @PHENOTYPICFEATURE$.	false
+9edb2bc90a9b3a42427cd9bad4b81b9da7c3c8d3	In the last decade, percutaneous treatment of musculoskeletal (@DISEASE$) @PHENOTYPICFEATURE$ has become more established in routine clinical care while also undergoing a number of advancements.	false
+e9618a7c17a411cc04618a34f6c5da569951bcb1	? Ablation techniques can treat painful malignant @DISEASE$ lesions and provide local @PHENOTYPICFEATURE$ control.	false
+2888b7d2917dfa0eca611fda43c566c8be1c7fe6	Most respondents reported high value from Alliance activities, such as attending @DISEASE$ @PHENOTYPICFEATURE$ boards (94%) and lecture series (96%), among those who reported them applicable.	false
+9f98a413f0e74b99db32a92476484dce2ae7729d	encompassing the APC gene, associated with adenomatous polyposis and early colorectal cancer, hepatoblastoma, @DISEASE$, @PHENOTYPICFEATURE$ mild dysmorphic signs and lower limb venous thrombosis.	false
+159c0d268ac8f3466ad1dffe768b7b12da7a2e28	Congenital @DISEASE$ are more commonly associated with spinal dysraphic states such as syringomyelia, dermal sinus and @PHENOTYPICFEATURE$ whereas the acquired cysts are associated with repeated lumbar punctures.	false
+65d18c50259a46a4567ffd7c760cfebd831fb96f	We examined the effects of rTMS treatment on the rest-activity cycle and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+33e3ca8d9ef9e1b376d3095cd8a61102a1555459	@PHENOTYPICFEATURE$ are very common in @DISEASE$ and may constitute forerunners of relapse.	false
+d71da55e7673dc3506d43699909896f5de1e522e	Findings provide objective and subjective evidence of sleep disturbance in children and adolescents with anxiety disorders and replicate findings of limited objective @PHENOTYPICFEATURE$ in those with @DISEASE$.	false
+7c30044a9183cc58efed7eb3086503174b1a17bc	Findings provide objective and subjective evidence of @PHENOTYPICFEATURE$ in children and adolescents with anxiety disorders and replicate findings of limited objective sleep disturbance in those with @DISEASE$.	false
+5dbd030061fc6eda154ecbe6dc863c0c10356897	Future studies are needed to further explore the relationship between residual @PHENOTYPICFEATURE$ and relapse in @DISEASE$.	false
+423167ed559da5a1241048443bd9d0458a1bbe3c	The results demonstrate that Lasea? reduces some of the anxiety related symptoms and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+05b3191faa197802b4dff570a934425868bc5d12	@PHENOTYPICFEATURE$ are frequently observed in major depressive (@DISEASE$) and bipolar disorder (BD).	false
+7b5d44b0504bea148289b88b3d57afb8304a9ab2	@PHENOTYPICFEATURE$ are persistent residual symptoms following remission of major depressive disorder (MDD) and are associated with an increased risk of @DISEASE$ recurrence.	false
+f0fc7e050fde1e56d9ffbec45ff78d6d8eb95ee9	@PHENOTYPICFEATURE$ are persistent residual symptoms following remission of major depressive disorder (@DISEASE$) and are associated with an increased risk of MDD recurrence.	false
+8f82be191517286aab863571dba9e9adb64163fa	Other associations were found between @DISEASE$ and @PHENOTYPICFEATURE$, respiratory illness, ulcer, hypotension, and diabetes.	false
+e868892f355e48bdc1cd48a340cc41c3bd629b06	Persistent @PHENOTYPICFEATURE$ are one of the most common symptoms of Major Depressive Disorder (@DISEASE$) in adolescence.	false
+aafa74e85fe997a3eacef4b2f29bf9f2f7f7db58	@PHENOTYPICFEATURE$ are a common symptom of major depressive disorder (@DISEASE$).	false
+e1d8bce91c003beb910679f320e26ffe7dd9e4ec	New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with @DISEASE$, mental and neurological retardation, and @PHENOTYPICFEATURE$.	false
+c55ffa561de3d5d3b3bd83c13e8382b3353fc6e0	Our patient cases highlight that basal ganglia hypoplasia is an interesting clue to the very rare and frequently unsuspected diagnosis of recessive @DISEASE$ type II, that may explain the associated @PHENOTYPICFEATURE$.	false
+1e6c0322b46da3be9cb0dc078695f290d0727132	A Japanese man with cytochrome b5 reductase (b5R) deficiency in various blood cell lineages (red cells, platelets, and lymphocytes) and in cultured fibroblasts demonstrated @DISEASE$ associated with mental and neurological retardation, and various @PHENOTYPICFEATURE$, such as spondylosis deformans and finger joint deformations, which have never been described in association with this enzyme deficiency.	false
+223aeb26bbcb5f2d231314392905f12725e35ba8	His past medical history was significant for @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+c849ed76754230ed6aa6eb28e798ecf12a1e9e3f	He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral @PHENOTYPICFEATURE$, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, @DISEASE$, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux.	false
+425729cc271c2bdbe78b6a3b6ac47ff4cd976250	He showed the following clinical features: microcephaly, @PHENOTYPICFEATURE$, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, @DISEASE$, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux.	false
+81eb861d2919c7d89c9cf58935dd8d35b1a6dca8	We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, @DISEASE$, congenital scoliosis, @PHENOTYPICFEATURE$ and coarctation of aorta.	false
+f36812799d950f10601e8fedc40e4587ffcc26fb	We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral @PHENOTYPICFEATURE$, @DISEASE$, congenital scoliosis, hypoplastic nails and coarctation of aorta.	false
+391acace7deb0f06467331ebdc0d557e3d35dd65	Chronic nephritis, @PHENOTYPICFEATURE$, growth and developmental retardation, hyperkinesis, and @DISEASE$ in a 5-year-old boy.	false
+7711e061116d756532ac23dbaf01f0aa5b983453	Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, @DISEASE$, bifid uvula, @PHENOTYPICFEATURE$ and double upper lip.	false
+ffd67c904ea3391a8f4cd0a02e3a078f5cc0691b	We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, @PHENOTYPICFEATURE$, brachycephaly with widely separated sutures, @DISEASE$, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation.	false
+3201e9c4eb0f1c183ca4b6464deec7a1388f154e	Manifestations include severe developmental delay, rounded face, sparse hair, @PHENOTYPICFEATURE$, hypertelorism, @DISEASE$, a thin vermilion border of the upper lip, and left renal dysgenesis.	false
+f53df1cc0b0e56dd52b9ca87ecb31101149192db	@DISEASE$ (Pi SZ) and @PHENOTYPICFEATURE$.	false
+9dcb404217fca3ee9f091c2278e0847ace5d339a	Underlying disorders included extrahepatic @PHENOTYPICFEATURE$, choledochal cysts, and @DISEASE$.	false
+c89a46550fa4aa9671168e101cd50ddd0d72bea8	The most common diagnosis was extra-hepatic @PHENOTYPICFEATURE$ (59%) followed by @DISEASE$ and acute liver failure (14% each).	false
+09c926331c5de6ffb99dab271d62984550e91a66	Serum gamma GT was raised in all children with @PHENOTYPICFEATURE$, sclerosing cholangitis, paucity of interlobular bile ducts, and @DISEASE$ with jaundice.	false
+e4927a68d5d3356d2761c00672a62f7fbc7bafbc	@PHENOTYPICFEATURE$ was the most common indication (41.9%) followed by @DISEASE$ (8.1%),	false
+da63c4e14123397d6830b28fd664eb24e8b4a0a1	Serum alpha-fetoprotein levels in extrahepatic @PHENOTYPICFEATURE$, idiopathic neonatal hepatitis and @DISEASE$ (PiZ).	false
+d435768956eb1aed94e65e8845039cccfa7b6674	Twelve patients had neonatal hepatitis, 12 @PHENOTYPICFEATURE$, and one each Alagille syndrome and @DISEASE$ liver disease.	false
+7c9a249c8d9af816ce52ccdf2a2ef1aa65c5256e	Concurrence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+52c8cc97da3d8affb1039377afb8f4b6a47978d8	Indications for transplantation were: @PHENOTYPICFEATURE$ (9), Byler's disease (1), tyrosinemia (3), and @DISEASE$ (1).	false
+13b36af4e357e12c48ba7bfbb4d1c8e0a5295c72	Two brothers showed cirrhosis of the liver, the sister showed extrahepatic @PHENOTYPICFEATURE$, and in all three patients there was an @DISEASE$.	false
+af06a03cd54adab6debdcc30782b7436cb9afb65	Only large vessel vasculitis is associated with pulmonary @PHENOTYPICFEATURE$; primary forms include Takayasu arteritis and @DISEASE$.	false
+990f96d500893a529d239f8d45135b24c3f7b8bc	The radiologist must be aware of the associated clinical signs: oral and @PHENOTYPICFEATURE$ lesions in the Beh?et syndrome; finger necrosis in a young male smoker in Buerger disease; hip and shoulder arthropathy and headache in a 70 Year old female and @DISEASE$; pulseless upper limbs and inflammatory syndrome in a young adult for the Takayasu arteritis.	false
+6a86c9e475c4e015a72344d597478481ac661980	These complications include @PHENOTYPICFEATURE$ (measles vaccine), multiple sclerosis (hepatitis B vaccine), meningoencephalitis (Japanese encephalitis vaccine), Guillain-Barr? syndrome and @DISEASE$ (influenza vaccine), and reactions after exposure to animal rabies vaccine.	false
+955625a51782b1d4426b23412921c3ead67bd478	@DISEASE$ is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or @PHENOTYPICFEATURE$, lactic acidosis, and characteristic magnetic resonance imaging findings.	false
+fd658eb61932287b33d239098acda009bb3c13b7	To analyze clinical and imaging features and genetic characteristics of @DISEASE$ with emergent @PHENOTYPICFEATURE$.	false
+ec4703e88750c84a4559c26353312374cbcc617a	A case report on a novel MT-ATP6 gene variation in atypical mitochondrial @DISEASE$ associated with bilateral @PHENOTYPICFEATURE$.	false
+b7cc082d060d333b041448191cde2fa0f3a75a50	To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to @PHENOTYPICFEATURE$, showing an @DISEASE$ (EOCA) phenotype.	false
+d04d596b9112080fb29989d45ea0bfa22e5eabb8	@PHENOTYPICFEATURE$ is one common comorbid condition seen in men with @DISEASE$, and its presence significantly impacts treatment considerations.	false
+95be1246e8782a55b90e177d75a7286123c7cb0b	? Men with penile disease (including phimosis and @DISEASE$) had slightly reduced penile length (pendulous -3.3 mm, P= 0.014; penopubic -2.3 mm, P= 0.029; stretched -5.1 mm, P < 0.001) compared with other referral groups (@PHENOTYPICFEATURE$, testicular disease, prostate and bladder disease).	false
+80516cbdd45d385d434c63125dbdf755285eb005	In the second case, vertigo, pulsatile tinnitus and @PHENOTYPICFEATURE$ @DISEASE$.	false
+e3324e7d5a0c84d6c67a0f9fe89a42e43c33fcb1	It is well known that @PHENOTYPICFEATURE$ rarely @DISEASE$ after middle ear surgery.	false
+873e4aa30301ce47d81d7eff14a5c453e5aa7e2d	We have to look for it when dyspepsia with @PHENOTYPICFEATURE$, pancreatic pain or impaired glucose tolerance @DISEASE$.	false
+2a2cde7f2ef87d7b4ae21eece09193223bdb963e	@PHENOTYPICFEATURE$ @DISEASE$ due to damage to the inner and outer hair cells of the peripheral auditory system.	false
+8beab3eba4af27048efdded45c8aefa1ee708a2b	Optic neuritis is clinically suspected when painful, rapidly progressive central @PHENOTYPICFEATURE$ @DISEASE$ in a young patient who has a relative afferent pupillary defect.	false
+a3c5edf630b5719dd2c779c682c76eafa2717066	In retinal migraine unilateral decreased vision or complete @PHENOTYPICFEATURE$ @DISEASE$.	false
+f7c8540917c53ebe598f22ef36043d14ff091ef0	@PHENOTYPICFEATURE$ and immunity impairment usually @DISEASE$ during cancer therapy.	false
+893c37190542c79de7f6e983241965548747dd5d	Lately, progressive @PHENOTYPICFEATURE$ @DISEASE$.	false
+44098f9b6bf38138d5bc588f26444117d6682ac8	Conventional chemotherapy and radiation are efficacious for some lymphoma and @PHENOTYPICFEATURE$, however relapse and progressive disease often @DISEASE$.	false
+951807b3c38cac11ee9a0c779a2f278329e35cbf	About 5 million new cases of @PHENOTYPICFEATURE$ blindness @DISEASE$ each year.	false
+cfce82f852ea4bcfe451ccf1e0ef59e7274c2b96	In these last years, several traditional risk factors for cardiovascular disease, like @PHENOTYPICFEATURE$, dyslipidaemia, hypertension and post-transplant diabetes mellitus have been also identified as important non-immunological risk factors leading to the development of @DISEASE$, the first cause of graft loss in transplanted patients.	false
+06ef6fca92eb4d062f9dbf587150b1e297d0860b	This review focuses on the actual status and recent advances in the treatment of immune-mediated neuropathies, including: Guillain-Barre syndrome (GBS) with its subtypes acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy, acute motor and sensory axonal neuropathy, Miller Fisher syndrome, and acute pandysautonomia; chronic inflammatory demyelinating polyneuropathy (CIDP) with its subtypes classical CIDP, CIDP with diabetes, CIDP/monoclonal gammopathy of undetermined significance (MGUS), sensory CIDP, @DISEASE$ (MMN), multifocal acquired demyelinating sensory and motor neuropathy or Lewis-Sumner syndrome, multifocal acquired sensory and motor neuropathy, and distal acquired demyelinating sensory neuropathy; IgM monoclonal gammopathies with its subtypes Waldenstrom's macroglobulinemia, myelin-associated glycoprotein-associated gammopathy, polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome, mixed cryoglobulinemia, @PHENOTYPICFEATURE$, late-onset polyneuropathy syndrome, and MGUS.	false
+85e39c033cd1dade524b580c8126baffe8206297	Two of the patients developed @PHENOTYPICFEATURE$, one chronic inflammatory demyelinating polyneuropathy (CIDP), one @DISEASE$, one both cognitive impairment and CIDP, and one cognitive impairment and sensory axonal neuropathy.	false
+9cb58a3872273070ef8a345e5bd5f09aab5b0ae2	The aim was to evaluate the mismatch negativity (@DISEASE$) component, a correlate of the automatic detection of changes in the acoustic environment, in healthy adults, and adults with amnestic mild @PHENOTYPICFEATURE$ (aMCI).	false
+b8708a634e19a9649316ed963af2ad7d32b924b5	Initial studies of @DISEASE$ predicted clinical utility for this measure in identification of infants at risk for developmental @PHENOTYPICFEATURE$.	false
+667aa66cd9c2fd2601f83484fd2eea318f1a34e6	@PHENOTYPICFEATURE$ and Hirschsprung disease, so far described only in @DISEASE$ (CHH), were documented during the first months of life in our patient.	false
+61e31c90c94d610e07716d9c545962d498bab4a7	We present a 12-year-old girl with @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+b5edb96e905295a48c43bb45b6de8edd3b73222c	The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of @DISEASE$, characterized by microcephaly, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+5072e94e042492523040b1da1e3cc7e30191cfc3	Bilateral @DISEASE$ and recurrent @PHENOTYPICFEATURE$ as initial presentation of idiopathic hypoparathyroidism in an infant.	false
+49320620c7f1273f4a86e9723e98a9e87d7c345c	Other variable clinical features include hypergammaglobulinemia, hepatosplenomegaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e2672735aad8defd428e2d9df5d9d9f8d3eaa890	@PHENOTYPICFEATURE$ and @DISEASE$: A possible association?	false
+2ede2d4f20e8691a15db35a18004f12ccff36c11	Excess levels of FGF23 cause renal phosphate wasting and suppression of circulating 1,25(OH)2 D3 levels and are associated with several hereditary hypophosphatemic disorders with @PHENOTYPICFEATURE$, including @DISEASE$ (XLH) and autosomal recessive hypophosphatemic rickets (ARHR).	false
+311da2b0a9a651bcae676de2cbea0397848806cf	Excess levels of FGF23 cause renal phosphate wasting and suppression of circulating 1,25(OH)2 D3 levels and are associated with several hereditary hypophosphatemic disorders with @PHENOTYPICFEATURE$, including X-linked hypophosphatemic rickets (@DISEASE$) and autosomal recessive hypophosphatemic rickets (ARHR).	false
+704f989ee6b1c06cf164f198cd68a8b0ac0c7a31	Hyperparathyroidism occurs frequently in @DISEASE$ (XLH) and may exacerbate phosphaturia, potentially affecting @PHENOTYPICFEATURE$.	false
+fbab36f0d515c11e7f36c5f3df483577f9e56ca7	Hyperparathyroidism occurs frequently in X-linked hypophosphatemia (@DISEASE$) and may exacerbate phosphaturia, potentially affecting @PHENOTYPICFEATURE$.	false
+9597abce3fa4f9f6a6d45adc7ef7daec9e1e8fd7	We describe a patient with @DISEASE$ caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant @PHENOTYPICFEATURE$, hypercalcemia, renal failure, and hypertension.	false
+0aeac70fbdb5e917b2bca18b5e52a28f5074fbdf	The @DISEASE$ (Hyp) mouse presents with biochemical and @PHENOTYPICFEATURE$ similar to those of human vitamin D-resistant rickets and hence is considered as a model of the human disease.	false
+23c7de474d837c6da03de83ce4a66c2c51a8a397	Of great interest is the recent identification of novel Pi regulating genes, PHEX and FGF23, that play a role in the pathophysiology of inherited (@DISEASE$ and autosomal dominant hypophosphatemic rickets) and acquired (oncogenic hypophosphatemic rickets) disorders characterized by renal Pi wasting and associated @PHENOTYPICFEATURE$.	false
+92dfedb2386faa90a35be34c14d8aa58eb62176a	@DISEASE$ 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, @PHENOTYPICFEATURE$, facial dysmorphism, episodic hypoglycemia, and neurological symptoms.	false
+c8eb8c0b835bff40f1810db6bd4ac8df30a8ff78	@DISEASE$ is a rare multiorgan disorder with prolonged QTc interval, @PHENOTYPICFEATURE$, syndactyly, typical facial features and neurodevelopmental problems.	false
+5715cc2e826d993803171f057d491d66dddb15e5	@DISEASE$ (TS) is a rare genetic condition that associates long QT syndrome, structural @PHENOTYPICFEATURE$, dysmorphic facial features, syndactyly, seizures, developmental delay, and autism.	false
+7584a71d06523bf5397f2910ba042327a37217da	Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and @PHENOTYPICFEATURE$ annotated as cardiac-only @DISEASE$.	false
+6b9052160b4fbf0596f583abe824059419a46d35	@DISEASE$ of the middle ear are very rare and can develop behind an intact tympanic membrane, just like congenital @PHENOTYPICFEATURE$.	false
+c7fc282c2c9bf949d31dd12dff3037fb846a389f	[A case of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+a94d89631406cd93985bf3da1f9ed8d3f4e09039	A 10-year-old female patient with @DISEASE$ and congenital glaucoma treated with trabeculectomy and ocular @PHENOTYPICFEATURE$ medications was examined.	false
+56405e11e803966915936401e1dbc3d8e8a3d94f	@PHENOTYPICFEATURE$ occurred in nearly all mice homozygous for the @DISEASE$ mutation C342Y in the mesenchymal splice form of Fgfr2.	false
+2d67ac2a31ac25040b8d1cd2d96b1bb0efaf22e9	An ultrasonic device (Mectron) was employed in different craniofacial surgical procedures: a) to perform 144 Le Fort I osteotomies, 140 palatal expansions after Le Fort I osteotomies, and 134 bilateral sagittal osteotomies; b) to perform a Le Fort III osteotomy for treatment of @DISEASE$ in 2 patients; c) to perform 5 segmental osteotomies and 3 osteotomies of the inferior edge of the mandible for facial asymmetry; d) to perform 12 cases of unicortical calvarial bone grafting; e) to remove the superior orbital roof in 20 cases of craniofaciostenosis and the frontal bone in 5 cases; f) to remove the external wall of the orbit or the anterior and posterior wall of the frontal sinuses in 10 cases of orbital cavity @PHENOTYPICFEATURE$; g) to approach the skull base through the frontal sinuses in 4 cases.	false
+fbf9bea471060afaa366cbd43f7207f39e08cedf	All the 50 patients (hemifacial microsomia, Romberg syndrome, mandibular condyle hyperplasia, secondary @PHENOTYPICFEATURE$, and @DISEASE$) received surgeries, and their facial appearance improved significantly.	false
+62efe57ee2787c169cf16d26acc0170d10d1c127	Patients with @DISEASE$ have higher incidence of @PHENOTYPICFEATURE$.	false
+2a2305e7011628a49d031844bf113a8fd1796f2b	To evaluate the association between cataract and @PHENOTYPICFEATURE$ surgery and risks of @DISEASE$ and fracture.	false
+5351c8b4e45fd193ea75a1bccb2caa8630b853ca	To evaluate the association between @PHENOTYPICFEATURE$ and cataract surgery and risks of @DISEASE$ and fracture.	false
+66f4b417e049cef03fe5d106c0c5a17fccbac72b	The associations of @DISEASE$/osteopenia with @PHENOTYPICFEATURE$ have not been well evaluated and conflicting results have been reported.	false
+77eb131e5099bb678e3c35db0bf9289ed0e56a6a	These investigations indicated atypical celiac disease with malabsorption, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6f977a7647941770d5877d41d044224fb8c6177e	@PHENOTYPICFEATURE$ and osteopenia or @DISEASE$ may develop as a consequence of vitamins malabsorption.	false
+2cac3d49d95d6c9623d87b203605b877146132cd	The index case subjects were two brothers, individuals 1 and 2, who presented with @DISEASE$, cataracts, @PHENOTYPICFEATURE$, and mild learning defects.	false
+6acc0da1a88b84008b1ddebba6f6705d5362393a	The index case subjects were two brothers, individuals 1 and 2, who presented with @DISEASE$, @PHENOTYPICFEATURE$, sensorineural hearing loss, and mild learning defects.	false
+037d111839eeb28527872a5888db3515810e72ad	@PHENOTYPICFEATURE$, arrhythmias or @DISEASE$)."Geriatric	false
+136729d7476b6ec6fe7b4a158fcf6d541f4d0ce3	@DISEASE$ or osteopenia were associated with an increased risk of @PHENOTYPICFEATURE$ among South Korean adults, especially in older ones.	false
+a0e68a61227ba774ecdc1c7c51572edabd47ad0d	@PHENOTYPICFEATURE$ and @DISEASE$ are common in patients with newly diagnosed CD.	false
+c1960279a4619470f58ad7271baee9ad296a4ab6	However, hyperchromic @PHENOTYPICFEATURE$, serum vitamin B12 deficiency, and @DISEASE$ were noted in some patients.	false
+d9b4d681d4cf66739bff1d8ec5f4a8be73cfceb5	Congenital lateral @PHENOTYPICFEATURE$ with unilateral craniofacial microsomia and lateral @DISEASE$.	false
+b2f25345c8479188310b98702e8f17ee92f486fa	@DISEASE$ is of various types and may be associated with other syndromic features like @PHENOTYPICFEATURE$.	false
+f5bb4300fdd08c8334193b617af6b70268be6807	A functional haplotype variant in the TBX22 promoter is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c5ea7d646fef7233cc297b01db4d0d427caa9c1f	Mutations in the TBX22 gene underlie an X-linked malformation syndrome with @PHENOTYPICFEATURE$ (CP) and @DISEASE$.	false
+a8056cc46219527aad9a45c3e498ca86d68a5b5b	Mutations in human TBX22 cause X-linked @PHENOTYPICFEATURE$ with @DISEASE$ syndrome (CPX; OMIM 303400).	false
+823eb45509332549ccdb02a33daddc9ff30a7d9f	Localization of a mutant gene for @PHENOTYPICFEATURE$ and @DISEASE$ in an X-linked Icelandic family.	false
+fda48b1f0050dbb421e3484f3b7a38005d9f6762	Congenital median cleft of the lower lip, bifid tongue with @DISEASE$, @PHENOTYPICFEATURE$, and submental epidermoid cyst: report of a case.	false
+96ceea905e37ff73359e75e57598bfb50ded90d7	@DISEASE$ has previously been associated with X-linked @PHENOTYPICFEATURE$ in an Icelandic kindred in which a gene responsible for cleft palate (CPX) was assigned to the Xq21.3-q22	false
+2bc2b4c18bb959f300538ad6cfe926ef249866cc	@DISEASE$ has previously been associated with X-linked cleft palate in an Icelandic kindred in which a gene responsible for @PHENOTYPICFEATURE$ (CPX) was assigned to the Xq21.3-q22	false
+cf7f2f3d3d6a0d29ba4ec0b7233540483608d5a2	We experienced surgery for a case of KFS complicated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9b46652c40334e266618601f8c249bcef925f8c7	X-linked CHARGE-like Abruzzo-Erickson syndrome and classic @PHENOTYPICFEATURE$ with @DISEASE$ result from TBX22 splicing mutations.	false
+05eb6c9360b091c6123e213f53a8c56e73cde2e3	Epigastric auras (p = 0.04) and @PHENOTYPICFEATURE$ (p = 0.025) occurred significantly less frequently in patients with FCD type 2 without HS compared to @DISEASE$ type 3a.	false
+ed23c3e05496e1d473bf1f1885ee03456ba551c2	Epigastric auras (p = 0.04) and @PHENOTYPICFEATURE$ (p = 0.025) occurred significantly less frequently in patients with @DISEASE$ type 2 without HS compared to FCD type 3a.	false
+9ba7ca0ec09555d3ae2e5d08cf8a788f7e6b21d5	To investigate Fallopian canal dehiscence (@DISEASE$) during @PHENOTYPICFEATURE$ surgery.	false
+a08e4f93271c16fe04ce32cc0625f57a8744b835	Statistically significant differences were seen in a history of @PHENOTYPICFEATURE$ and the occurrence of auras more common in @DISEASE$ type 3a.	false
+7e1f210d90d48c0e6fe9f2ee6924fa6065eedebe	This study investigates whether a combined rotating dipole (RD) and moving dipole (MD) solution enhances three-dimensional electroencephalography (EEG) source imaging (3D-ESI) localization in magnetic resonance imaging (MRI)-negative pediatric patients with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+e55361c79e85f9a876de503a48890c4b473e7401	We demonstrate the importance of the underrated interictal (rather than ictal) surface EEG in informing decision-making in epilepsy surgery for children with epileptic encephalopathy caused by subtle @PHENOTYPICFEATURE$ (@DISEASE$).	false
+2899f66ac797c36cf6c2cc20fe59ba6b33b523b4	A surgeon is more likely to encounter @DISEASE$ during @PHENOTYPICFEATURE$ surgery than in stapes surgery.	false
+e80025fa0a7c27112d15f80868e70769161ef630	Intra-operative incidence of (i) FCD during @PHENOTYPICFEATURE$ surgery versus otosclerosis surgery was statistically very highly significant (P?<?0.0001, OR?=?5.43); (ii) @DISEASE$ during revision versus primary cholesteatoma surgery was not statistically significant (P?=?0.83); and (iii) encountering a fistula in the presence of FCD during cholesteatoma surgery was statistically very highly significant (P?<?0.0001, OR?=?6.71).	false
+70ae2bb3091acac6b2a7b2e94e8e5e161340f2c3	Intra-operative incidence of (i) FCD during cholesteatoma surgery versus otosclerosis surgery was statistically very highly significant (P?<?0.0001, OR?=?5.43); (ii) @DISEASE$ during revision versus primary @PHENOTYPICFEATURE$ surgery was not statistically significant (P?=?0.83); and (iii) encountering a fistula in the presence of FCD during cholesteatoma surgery was statistically very highly significant (P?<?0.0001, OR?=?6.71).	false
+67a32dc53d5d4b4d48741c215eebe7dd09cfb604	Intra-operative incidence of (i) FCD during @PHENOTYPICFEATURE$ surgery versus otosclerosis surgery was statistically very highly significant (P?<?0.0001, OR?=?5.43); (ii) FCD during revision versus primary cholesteatoma surgery was not statistically significant (P?=?0.83); and (iii) encountering a fistula in the presence of @DISEASE$ during cholesteatoma surgery was statistically very highly significant (P?<?0.0001, OR?=?6.71).	false
+ae770d2c11dda12658b1c2b9f2be683219ad825f	Intra-operative incidence of (i) FCD during cholesteatoma surgery versus otosclerosis surgery was statistically very highly significant (P?<?0.0001, OR?=?5.43); (ii) FCD during revision versus primary @PHENOTYPICFEATURE$ surgery was not statistically significant (P?=?0.83); and (iii) encountering a fistula in the presence of @DISEASE$ during cholesteatoma surgery was statistically very highly significant (P?<?0.0001, OR?=?6.71).	false
+0f6ebc25cb0c521d344de1ca7a77c896019752d4	Intra-operative incidence of (i) FCD during cholesteatoma surgery versus otosclerosis surgery was statistically very highly significant (P?<?0.0001, OR?=?5.43); (ii) FCD during revision versus primary cholesteatoma surgery was not statistically significant (P?=?0.83); and (iii) encountering a fistula in the presence of @DISEASE$ during @PHENOTYPICFEATURE$ surgery was statistically very highly significant (P?<?0.0001, OR?=?6.71).	false
+ae96dcf203ee6bb7daf149067fbd5c5974ebd449	Intra-operative incidence of (i) FCD during cholesteatoma surgery versus otosclerosis surgery was statistically very highly significant (P?<?0.0001, OR?=?5.43); (ii) @DISEASE$ during revision versus primary cholesteatoma surgery was not statistically significant (P?=?0.83); and (iii) encountering a fistula in the presence of FCD during @PHENOTYPICFEATURE$ surgery was statistically very highly significant (P?<?0.0001, OR?=?6.71).	false
+01b634f0780440ec73d189c32ce62fc1f7ecb901	About a third of patients with epilepsy are refractory to drug treatment, mainly as a result of @PHENOTYPICFEATURE$ (@DISEASE$).	false
+d0d18a3eefbec31a037c0e10aa1f3012a2871333	Only @PHENOTYPICFEATURE$ (p = 0.025) and an aura (p = 0.03) were significantly more frequently reported in patients with @DISEASE$ type 3a.	false
+54afcf0c5c9e93391b1ca9986adeceeff2b7141f	(i) Intra-operative incidence of @DISEASE$ during (a) surgery for @PHENOTYPICFEATURE$ versus a homogeneous control group (patients with otosclerosis); (b) revision surgery for cholesteatoma as compared to primary surgery.	false
+3083e671403a5c2810f4521fe05f47627a88f2d1	(i) Intra-operative incidence of @DISEASE$ during (a) surgery for cholesteatoma versus a homogeneous control group (patients with otosclerosis); (b) revision surgery for @PHENOTYPICFEATURE$ as compared to primary surgery.	false
+55e4cef25c722f47572e19983bca472599324d1a	Primary @DISEASE$ of the petrous temporal bone: an exceptional cause of facial palsy and @PHENOTYPICFEATURE$ in a nursling.	false
+034dc2f6e090569a69e2d45582b888c360128e96	A 4-year-old boy with primary cardiac @DISEASE$ presenting with congestive @PHENOTYPICFEATURE$ is reported for its rarity.	false
+e363a388f7de0eebd6539ada84d07bac662749f9	A 20-year-old man with metastatic @DISEASE$ developed severe @PHENOTYPICFEATURE$.	false
+1d9d370f8c894f665dbc01a5480cff2ab5c79d05	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) malignant peripheral nerve sheath tumors, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) extraskeletal myxoid chondrosarcoma, 1/3 (33%) @PHENOTYPICFEATURE$, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) @DISEASE$ showed PD-L1 expression.	false
+2b8480fe6ca10aa1a45f4d7f014831c4976ad661	However, its association with @PHENOTYPICFEATURE$ and sudden cardiac arrest (@DISEASE$) remains controversial.	false
+4fa7a96b9763b4d45314c7599c76ec83e4323702	We report the case of a 56-year-old woman with multivessel coronary artery disease, significant left subclavian (@DISEASE$) and bilateral @PHENOTYPICFEATURE$.	false
+4bf404db10afa8379f34ed3caef18aab4d623611	Post-MI patients are highly susceptible to sudden cardiac arrest (@DISEASE$) and sudden cardiac death (SCD) resulting from @PHENOTYPICFEATURE$ (VA).	false
+5259c66159e67a5aeeb5b9054b1c68188d74117b	Children with sickle cell anemia (@DISEASE$) frequently have @PHENOTYPICFEATURE$.	false
+0826c1a3750b65bf59cba7c830625e5e14a2884f	There is a high incidence of delayed sexual development and @PHENOTYPICFEATURE$ during childhood in children with sickle cell anemia (@DISEASE$).	false
+d190f61b58680150bfaa7df5900ac597f40fab74	Sudden cardiac arrest (@DISEASE$) can be the first sign of @PHENOTYPICFEATURE$ in teenagers.	false
+51645167924635e9f5b7c72f8b9cc7bf2d8149ff	We describe the case of an 81-year-old woman who presented with @DISEASE$ exanthema, @PHENOTYPICFEATURE$ and perianal fistulation.	false
+aa1ad63793bb38855a354e6d00879ab73f4d4fbd	Blood tests were negative for Leber's hereditary optic neuropathy, dominant @PHENOTYPICFEATURE$, and for expansions in @DISEASE$ genes including SCA-1.	false
+79fbdf2b14afa3014b6086f6f3153368c09982fb	There was an unexpectedly high overall prevalence of established cardiovascular risk factors (obesity, diabetes mellitus, hypertension, @PHENOTYPICFEATURE$, smoking) with ?1 risk factors in 58% of @DISEASE$ cases.	false
+0039c3c31b91ac4b43b86efe91ca93441df91bf2	To examine the association between individual antidiabetic sulfonylureas and outpatient-originating sudden cardiac arrest and @PHENOTYPICFEATURE$ (@DISEASE$/VA).	false
+76060ae443f442c3f645644438a7a5310582c8fe	The purpose of this cross-sectional study was to examine the clinical and pathological characteristics and influencing factors associated with renal @PHENOTYPICFEATURE$ in patients with @DISEASE$, which is the most common aetiology of chronic kidney disease.	false
+1308296c74bef657597012d052a898df2b22787c	Familial @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cfbbbdbde05a1f71e613b1082c58d51bb5d62420	Although the clinical course is generally gradual in patients with @DISEASE$, progression to renal hypertension, renal @PHENOTYPICFEATURE$, and end-stage kidney disease is not as rare as originally thought.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+c8d48ba608cb10d098d54ea635f80cb1df32b435	Relationship between renal @PHENOTYPICFEATURE$ and prognostic stages of @DISEASE$.	false
+0c3c3c1c67ed8b02036f579915545472758cbd43	Hereditary nephritis (with or without @PHENOTYPICFEATURE$) was found to be the most common cause of asymptomatic microscopic hematuria (25/30), followed by isolated C3 deposits disease (3/30), @DISEASE$ (1/30) and IgM nephropathy (1/30).	false
+3e4e213563ef6baea211e4e24cd7daf59211030b	[Acute, bilateral @PHENOTYPICFEATURE$ in a?patient with @DISEASE$].	false
+42e4abff18f96ae99573e662d773f2c7216a8d2d	A case of established @DISEASE$ with subsequent onset of @PHENOTYPICFEATURE$ is described.	false
+ca67711d617f84c5056ec9080666edd594e362df	A 42-year-old patient, who was treated for @DISEASE$ syndrome previously, presented with chronic somatic @PHENOTYPICFEATURE$.	false
+f705fd601ead5cb8379c18068ef0086cab3a38d7	Patients harboring this mutation typically present with @PHENOTYPICFEATURE$ and cardiac conduction abnormalities, particularly @DISEASE$, and have a late clinical onset, which contrasts with the typical infantile form.	false
+3ec7f2df4f73662ce2ad0c20b5e9471b85521766	He had various symptoms caused by insulin-dependent diabetes mellitus, @PHENOTYPICFEATURE$, @DISEASE$ and cardiomyopathy associated with mitochondrial DNA point mutation A3243G.	false
+5d57b601fc8902dded3d7f69ecff9d8481b540e8	We studied a female patient with a polyautoimmune AIE syndrome resembling a mild form of @DISEASE$ syndrome but associated with recurrent bacterial infections and mild @PHENOTYPICFEATURE$.	false
+a8c19415d466fc965ebb2486b38878528f1287a5	@DISEASE$ diabetes mellitus, autoimmune interstitial lung disease and autoimmune cytopenias), lymphoproliferation, @PHENOTYPICFEATURE$ and, less frequently, severe recurrent infections.	false
+0c698da5b685ab6d9b5a8459726c820eeadeb7ec	Its efficacy is documented in cognitive disorders and dementia, vertigo, cortical myoclonus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2baf9df9abf843b15f5b103683244cbc9c744634	Asymptomatic multinodular splenoma (splenic @PHENOTYPICFEATURE$) in a child with @DISEASE$.	false
+a44cc51b87dde3273bfa436d7055b92bd96958f1	We report a case of an 11-year-old girl with @DISEASE$ who had a single splenic 1.8 cm nodule incidentally found during splenectomy and histologically characterized by disorganized red pulp tissue without interspersed white pulp leading to the diagnosis of @PHENOTYPICFEATURE$.	false
+e8daf445cf64e17d8649286db1cd39484449d0e0	This procedure was used in a 13-year-old male with @DISEASE$, who presented with bilateral @PHENOTYPICFEATURE$, respiratory distress, and hypoxemia, unresponsive to antibiotics and other means of conservative therapy.	false
+d0a877709fe0356859152ce13310745d53cb5f90	A 14-year-old girl with @DISEASE$ and nephrotic syndrome developed bone pain, followed by @PHENOTYPICFEATURE$, seizures, coma, and bilateral flaccid paralysis.	false
+b4f8e5df348ae339424affc758d198e9c5ae2bcd	We describe a case of a 16-year-old female with homozygous @DISEASE$ who presented to the emergency room with fatigue, malaise, dark urine, @PHENOTYPICFEATURE$, scleral icterus and jaundice.	false
+8a70a7bf8d06e5c16aded8397e370d5c1d89ff7e	Pathologic conditions of the spleen can be classified into the following categories: congenital diseases (accessory spleen, polysplenia, and asplenia); trauma; inflammation (abscess, candidiasis, histoplasmosis, and sarcoidosis); vascular disorders (infarction, diseases affecting the splenic vasculature, and arteriovenous malformation); hematologic disorders (sickle cell disease and extramedullary hematopoiesis); benign tumors (cysts, hemangioma, diffuse hemangiomatosis of the spleen, and @PHENOTYPICFEATURE$); malignant tumors (sarcoma, lymphoma, and metastases); and other disease processes that affect the spleen diffusely (portal hypertension, Gaucher disease, and @DISEASE$) or focally (Gamna-Gandy nodules).	false
+6eed74c757f1c109fff4c8c5df55145e7c3a4527	The prevalence rates of hypertension, dyslipidemia, obesity, diabetes mellitus, migraine, heart disease, carotid stenosis, @PHENOTYPICFEATURE$, peripheral cascular disease, ischemic eye disease, high homocysteine level (HHE) and @DISEASE$ among stroke patients were 89.3%, 39.7%, 25.4%, 25.4%, 21.4%, 23.7%, 13.2%, 6.4%, 6.5%, 5.9%, 0.3%, 0.3%, respectively, all higher than those without the disease.	false
+3a411b77546521d147e44eeb6c666fc60588123e	Because the present therapeutic regimens of NPH/Lente insulin given at suppertime cause overnight hyperinsulinemia, excessive fasting hyperglycemia @DISEASE$ follows nocturnal @PHENOTYPICFEATURE$, except when excessive glucose is ingested to correct hypoglycemia.	false
+3ebea4b989ebb5fcd6423fcd4ddb387f714f82ec	Because the present therapeutic regimens of NPH/Lente insulin given at suppertime cause overnight hyperinsulinemia, excessive fasting @PHENOTYPICFEATURE$ @DISEASE$ follows nocturnal hypoglycemia, except when excessive glucose is ingested to correct hypoglycemia.	false
+33b454e9aba72d9ba3a316c146bdf7c71abf3f0c	In some cases, @PHENOTYPICFEATURE$ or more @DISEASE$ retinitis pigmentosa is noted.	false
+55585331da455eb1ecb555fbf7038072db17fa60	Benign intracranial hypertension (BIH) may lead to @PHENOTYPICFEATURE$ and @DISEASE$ deafness.	false
+64de35f54937f66ac862de471afe6d4f2ea36393	Painless legs and moving toes syndrome is a very @DISEASE$ syndrome characterized by continuous and @PHENOTYPICFEATURE$ of the toes.	false
+095a8f08d2927c0f8573e9dfc56eed8365087c99	@PHENOTYPICFEATURE$ and microdontia: clinical features of a @DISEASE$ syndrome.	false
+1ff8993e75ae06968605cb6274e2130895deecfd	In comparison, acute or progressive bilateral @PHENOTYPICFEATURE$ is a very @DISEASE$ disorder.	false
+5ec369b4b0fec373e339e9eefd8fdd22c0e7eade	Acute radioneumonitis is characterized by dyspnea, cough, and, @DISEASE$ @PHENOTYPICFEATURE$ and chest pain.	false
+d74409b5884fe6186f723577f1b4373fadd2bac0	Hemangiopericytomas are @DISEASE$ vascular tumors that may be associated with profound @PHENOTYPICFEATURE$.	false
+aada9c7e7a460588339943565e00e2c1cb2c38a4	Atheromatous @PHENOTYPICFEATURE$ @DISEASE$ causes renal failure.	false
+42d668df1a26e4bd76f23ffa6004ada367fca351	@PHENOTYPICFEATURE$ episodes @DISEASE$ occurred, and the rate of kidney calcifications was remarkably low (12%).	false
+67cc5da9629dbe36e2c473ca6697683437b8da45	Oral, facial, digital, @PHENOTYPICFEATURE$ with psychomotor delay: a mild form of @DISEASE$ type Gabrielli?	false
+8bbb93e05f254b072c5d60fc13b7d3c01a1f9f70	Lingual leiomyomatous @PHENOTYPICFEATURE$ with bifid tip and ankyloglossia in a patient without @DISEASE$: a case report and literature review.	false
+aa6673bf94ab225feac5946eb26316d96796366c	Based on the literature and this study we suggest as diagnostic criteria for @DISEASE$ VI: MTS and one or more of the following: 1) tongue @PHENOTYPICFEATURE$(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.	false
+45b0b4fe97cc43ca45e09a2de00e06f7874f0c0f	Here is a rare case of lingual leiomyomatous @PHENOTYPICFEATURE$ (LLH) with bifid tongue tip and tongue-tie in a patient with non-@DISEASE$ (OFDS).	false
+d79fc8d504ec208f6d885f5e033ba934c1649af3	Oral-facial-digital syndrome type VI (@DISEASE$ VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue @PHENOTYPICFEATURE$ (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma.	false
+b9da6ae67d17a81e4f74784751e1222ec57cea14	@DISEASE$ type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue @PHENOTYPICFEATURE$ (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma.	false
+4c9f8f2c49c4c7024df5c25212ea071ffb6840bc	We identified a negative correlation between the frequency of PT and @DISEASE$ scores as well as the presence of muscle @PHENOTYPICFEATURE$.	false
+64f95f689a105f2d64b58fdf756275f71ca75cca	We introduce a new multi-atlas segmentation (@DISEASE$) framework for MR @PHENOTYPICFEATURE$ brain images.	false
+764f2e0fa95693c1b3c28797d1630a1be7218707	Ninety percent of @DISEASE$ patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, @PHENOTYPICFEATURE$, and compromised oral health.	false
+4bdd03613eabe1b0a5b5da37b135f17d2797d6cb	Glycerophosphocholine and PGE2 levels, measured by HR @DISEASE$ MRS and EIA, respectively, were lower in treated @PHENOTYPICFEATURE$ after 2 days of treatment.	false
+a230401fc95429f90f3b25faf0df00e30d4cb47e	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (@DISEASE$) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+73ad2736fca42133c1c83231795cde31c460f63d	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (@DISEASE$, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+92628eec09a6880b0041d7d5f9dbdc505c2d1b4a	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (@DISEASE$, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+06d229e28e548d6bf4fa96650b666f62b06d34f4	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (@DISEASE$) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+a91ec3fd234a7204c0142f4b20a2538dd45b5347	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, @DISEASE$, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+eb62205183413902072c6c27c313818c758f718b	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (@DISEASE$, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+52ba86d02f89bd361d92e7e02f4b5ba262ea34cb	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (@DISEASE$, 6.94; MPI, 6.80%).	false
+6eddd6cab75708c0e228b09afadc52ff006f2c84	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (@DISEASE$, 6.94; MPI, 6.80%).	false
+553d4f8e319dcc5248f55a17ef13006eccfd3709	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (@DISEASE$, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+cb41f179e2815fe78df741cc649d93ced20c46db	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, @DISEASE$, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+974c4bc41bcdcc1fc6f3b731dd008ad864935209	Milk-alkali syndrome (@DISEASE$), characterized by @PHENOTYPICFEATURE$, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism.	false
+e3c2ea08eefc56ddf5ffebe15bd93a915052f3f4	Milk-alkali syndrome (@DISEASE$) consists of hypercalcemia, various degrees of @PHENOTYPICFEATURE$, and metabolic alkalosis due to ingestion of large amounts of calcium and absorbable alkali.	false
+9cf83d1b04251c3cfec601f990918209ab5e7dac	@DISEASE$ is caused by increased calcium and alkali ingestion, causing hypercalcemia accompanied by metabolic alkalosis and @PHENOTYPICFEATURE$.	false
+2720193dc0bfff4c82a742577cbb4604d44a57c0	The milk-alkali syndrome (@DISEASE$) was a common cause of hypercalcemia, metabolic alkalosis, and @PHENOTYPICFEATURE$ in the early 20(th) century.	false
+0b31e0ed2d69d2e3da28c7661019639467ff25ea	Metabolite estimates and PCA of @DISEASE$ spectra were influenced by the percentage of @PHENOTYPICFEATURE$ cells in the investigated specimens.	false
+7638aaa6e401f4b4e83082caee1ca2b3289b3870	@DISEASE$ and @PHENOTYPICFEATURE$ were uncommon.	false
+a590536b38ff602649a4c6eb9a36ffeca5836850	Laboratory evaluation demonstrated central @PHENOTYPICFEATURE$, hypothyroidism, and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+119f7f07ebd037bd21844c714e8964ce5bf4d2c7	We report two cases with ichthyosis vulgaris, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f5278da9965f709239f081afe32b0d7589314a7b	She had hypogonatropic @DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+130d0a2807833ce2303b09f163e80afd7e91033c	@PHENOTYPICFEATURE$ and @DISEASE$ were documented.	false
+45a351aa53a27c0e92ffd4a8d052fe0d73f78ba0	The pathological findings include a facial aspect featuring fetal Down's syndrome, hypogenitalism and @DISEASE$ with excessive reduction of germ cells and also @PHENOTYPICFEATURE$ that may be interpreted as early changes, preceding phalangeal shortening V and radioulnar synostosis.	false
+e8349d921625e396d63afb386abb7a489cda2c2d	The pathological findings include a facial aspect featuring fetal Down's syndrome, @PHENOTYPICFEATURE$ and @DISEASE$ with excessive reduction of germ cells and also skeletal abnormalities that may be interpreted as early changes, preceding phalangeal shortening V and radioulnar synostosis.	false
+e4e707c375c88d69271787f852f7508d8d448f1d	All patients had @DISEASE$, @PHENOTYPICFEATURE$.	false
+1d186bc3b566c42dd74fc794674681a9854926c7	@PHENOTYPICFEATURE$-@DISEASE$ syndromes.	false
+08b093ee90e96c7016a780237ab1aa2d897d47d7	MEHMO is characterized by Mental retardation, Epilepsy, @DISEASE$/@PHENOTYPICFEATURE$, Microcephaly, and Obesity.	false
+07571478c0b0aca3ca2022bc41fa537ca419b329	We selected nine clinical markers (sex, severity of @DISEASE$, parental consanguinity, family history, behavioral problems, head size, @PHENOTYPICFEATURE$, non-facial anomalies and neurological deficits) and looked into the likelihood of finding an underlying etiology during follow-up.	false
+787dd1b260f7094e562ae74ef4b58acadbe18b5a	@PHENOTYPICFEATURE$ was more commonly seen after @DISEASE$ than trabeculectomy, typically a noncomitant restrictive hypertropia.	false
+7c36b2a83af8d85580aae5ebc5d6601c4f432437	SYT2 mutations cause a novel and potentially treatable complex @DISEASE$ characterized by motor neuropathy causing lower limb wasting and @PHENOTYPICFEATURE$, with reflex potentiation following exercise and a uniquely prolonged period of posttetanic potentiation.	false
+e5c779f626fe7e16f0425c8a0189329620f507ea	Keywords: @PHENOTYPICFEATURE$; @DISEASE$; Mullerian agenesis; primary amenorrhea; 46,XX.	false
+6be61380e0c5c856784ed1f316f19b04cb576c47	A 25-year-old patient with @DISEASE$ who presented with lower @PHENOTYPICFEATURE$.	false
+244e1f30a3e537bdcbd2b56d966067e8542fd6b9	The association of @PHENOTYPICFEATURE$ and @DISEASE$ is very rare and appears to be coincidental.	false
+575d5c934d057997d5952844bcadd8e2c44adabe	A rare case of 46,XX @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a8b1cd809407bfe68316cb4df787ff840a8955f2	The association of @PHENOTYPICFEATURE$ and @DISEASE$ is very rare.	false
+076b90f2c5479229015c3d8c72c2014e00ec7751	Three teenage girls, 2 with the Mayer-@DISEASE$ and 1 with @PHENOTYPICFEATURE$, underwent this procedure without any postoperative complications.	false
+921bcdc79b1e83943fec5928149b24b7d341ae76	@PHENOTYPICFEATURE$ and the @DISEASE$ in a girl with 46,X,del(X)(pter-->q22:).	false
+2256ce2a0e2ded17d186d523a54ba130b3d784e1	A 47-year-old woman with @DISEASE$ with lower @PHENOTYPICFEATURE$ and pelvic tumescence.	false
+4bc857cf110d20801da884e0944a08b8f2565151	@PHENOTYPICFEATURE$ and the @DISEASE$ in a girl with a 46, XX karyotype: A case report and review of literature.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+d7ea03c7294d9386555c3539687b69a9c0209e42	Ankyloglossum superius (or @DISEASE$ superior) is a rare congenital craniofacial condition characterized by tongue tip adherence to the hard palate and associated @PHENOTYPICFEATURE$.	false
+9b5038eeae638fff2cda1a45d0ea0d103d7205ad	The patient, a 19-year-old woman, has a multiple congenital anomaly syndrome with severe developmental and growth delay, @PHENOTYPICFEATURE$, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and @DISEASE$.	false
+5641eb3e48fce3c488072ea94f0561534a4db997	We report the autopsy case of a boy with @DISEASE$, associated with @PHENOTYPICFEATURE$ and dentato-olivary dysplasia.	false
+ec9a3882be77294ace3b3e51daab01af51203c71	We thus aimed to establish the genetic basis of an @DISEASE$ subtype that is associated with multiple dysmorphic features and @PHENOTYPICFEATURE$ (ID).	false
+846cd8f386f8c1fa0d08a68ab939bab5985aed75	Here, we present two female siblings with @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$.	false
+ca65d398db6612777e2fa598325e09392de397de	A term male infant with @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+ca13bf0728bf0c5e0097202a2a9235b97ee82e71	Ten of 18 children in a highly inbred Arab kindred suffered from either ataxia telangiectasia (AT) or a variant syndrome consisting of @PHENOTYPICFEATURE$, microcephaly, and congenital cataract (@DISEASE$).	false
+be433fd13a47eeb9fb9b38e6a4e4a17379c65cdf	Part II: peripheral neuropathies, Friedreich's @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5fa11cea16b6064ec7cccb518dcbe9e514bb2804	@DISEASE$ in an infant with posterior @PHENOTYPICFEATURE$.	false
+5896a5f815969bed30ff45cba62eea24f9eb6e56	@DISEASE$ with @PHENOTYPICFEATURE$ and dentato-olivary dysplasia.	false
+bb27427b2338d83ff0d0302649179a6af1a9996f	@DISEASE$, the occurrence of multiple joint contractures at birth, can in some cases be accompanied by insufficient myelination of peripheral nerves, @PHENOTYPICFEATURE$, reduced tendon reflexes, and respiratory insufficiency.	false
+1fabaccafe937c665331f0e11898a705b77f2e8f	The new @DISEASE$-2 criteria, compared with the old ones, have positive effects on the clinical practice being more sensitive to the early @PHENOTYPICFEATURE$ and having a better prognostic yield.	false
+7478fb7b6926a17f3f909f9929afd4fb8f597027	Interstitial @PHENOTYPICFEATURE$ and focal myocarditis in @DISEASE$.	false
+216be52f966fae318ad05936a480f7e78d8697f6	@DISEASE$ syndrome (PTCS) refers to the primary and secondary disorders that cause elevated intracranial pressure without an intracranial mass lesion, ventriculomegaly, or @PHENOTYPICFEATURE$ or malignancy.	false
+749bb988bba629965c0b8f7d2270213d4512da4e	Idiopathic intracranial hypertension (@DISEASE$), a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF) pressure, has been described in children with hypercortisolism, adrenal insufficiency, and @PHENOTYPICFEATURE$, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis.	false
+246e18c739b0622815230368c56637ec57023d2d	@DISEASE$ (USH3), characterized by progressive deafness, variable balance disorder and @PHENOTYPICFEATURE$, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein.	false
+915d9b50428fb8149b067985459721482da7a7f3	Mutations in whirlin cause either @DISEASE$ (USH2), a deafness-@PHENOTYPICFEATURE$ disorder, or nonsyndromic deafness.	false
+1a7fa5a5facaf4fe355550cbc0c6f3e9ffcb9fd4	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+22f725bc76bd186148d9eb4cd7cfa71bfcdde7b4	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+4efcbf70c2ac234df5f4c229009a7f85572224d1	[Development of @PHENOTYPICFEATURE$, therapy and therapy monitoring in glutaric aciduria type I (@DISEASE$)].	false
+5b722e5390b448367efcfa3b4016501e99f1a2ee	@DISEASE$ (FD) is the best-known and most common member of a group of congenital sensory/autonomic neuropathies characterized by widespread sensory and variable @PHENOTYPICFEATURE$.	false
+257b3c099d703dcd10ac75718335219648d9a6c8	Electrocardiographic repolarization intervals were evaluated to determine the extent of cardiac @PHENOTYPICFEATURE$ in patients with @DISEASE$ (FD) and to determine if any of these intervals could serve as a possible predictor of clinical symptoms.	false
+2fe40c66b018683cf84a8c761f7bc7770bfa5521	Case 2 shows loss of sensation, mental retardation, and @PHENOTYPICFEATURE$, clinically similar to patients with @DISEASE$.	false
+bf2753767c56436006a694c371e7ee041dfcb0d4	@DISEASE$ (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable @PHENOTYPICFEATURE$.	false
+a7991761fc1b59569dadc53e7c8a9aa1ddb43ff5	@PHENOTYPICFEATURE$ are prominent in the genetic disorder, @DISEASE$ (FD).	false
+7c81d10a31c377a64feca965e4c4bb1a5ccc1fd0	Electrocardiographic repolarization abnormalities in @DISEASE$: an indicator of cardiac @PHENOTYPICFEATURE$.	false
+5648a2d3e42b394ca1b34440a97b2f6792f94621	Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid @PHENOTYPICFEATURE$, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by @DISEASE$.	false
+0aa8bd675df6e0db7c13f06082ccd58e3c588451	A 20-year old patient with @DISEASE$ presented with facial asymmetry, broad nasal root, @PHENOTYPICFEATURE$, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region.	false
+303b05ac757bb2f52376c2963417b066f828f83a	@DISEASE$ associated with @PHENOTYPICFEATURE$ and hypertension.	false
+766aa01e34b1a1e5a8c9ee728bc303cdee49ea34	Mental retardation, deafness, @PHENOTYPICFEATURE$, and coarse face with full lips: confirmation of the @DISEASE$.	false
+cef162d881da1ecedf3eb4e93e912cc5206b71c6	On the other hand, regardless of the background strain, ASP-deficient mice demonstrate reduced body weight, reduced leptin and reduced adipose tissue mass, suggesting that @DISEASE$ deficiency results in protection against development of @PHENOTYPICFEATURE$.	false
+658125e89a4a5a78876777f03a2cd6b31617a53d	The protective potential of @DISEASE$ deficiency against @PHENOTYPICFEATURE$ and involvement of the leptin pathway were examined in ob/ob C3(-/-) double knockout mice (2KO).	false
+2aa23ffdf24b711018db2dbfcedd5ea74b19b6b0	ASP stimulates the synthesis of triacylglycerol in adipocytes, and @DISEASE$-deficient mice are resistant to diet-induced @PHENOTYPICFEATURE$.	false
+cb11347e96ed619907c6e09517680d7a1bec11af	The present study investigated ASP levels in mouse models of @PHENOTYPICFEATURE$ and leanness and the effect of @DISEASE$ deficiency in C3 knockout (C3KO) mice on adipose tissue morphology.	false
+2a2fc728f7fd933b5aaa805e0c9c93df0befda4f	Chronic inflammatory diseases (CID) of the temporal bone with or without @PHENOTYPICFEATURE$ account for most adults scheduled for an active @DISEASE$.	false
+51b5f8cc8e04212e778813049e8597751f6a3dd6	Among the genes identified, the @DISEASE$ 5 gene, DFNA5, promoter was found to be methylated in primary @PHENOTYPICFEATURE$ tissues with high frequency (65%, 65/100).	false
+d15fc64437a2d97670d317ccd57e457ee783a08b	The Hb S carriers (Sickle cell trait) leads a normal life but the @DISEASE$ patients show certain clinical manifestation like @PHENOTYPICFEATURE$, anaemia and jaundice.	false
+6bc39e22bb3ce55642892ebd7cb1882651357c75	Headache and scalp @PHENOTYPICFEATURE$ in @DISEASE$.	false
+67fd92a69ac7d02de578f70c2fe0f47523fca2f3	Known causes include monogenic and chromosomal disorders, fetal head constraint, teratogens (aminopterin, diphenylhydantoin, retinoic acid, valproic acid), metabolic diseases (hyperthyroidism, rickets, mucopolysaccharidoses, mucolipidoses), hematologic disorders (thalassemias, @DISEASE$, congenital hemolytic icterus, polycythemia vera), and malformations (@PHENOTYPICFEATURE$, encephalocele, shunted hydrocephaly, holoprosencephaly).	false
+f862149b9c7fed46ae8c22fdddaee7a1c8fb46c7	We report a rare case of two young male siblings with @DISEASE$ who presented with bilateral lower limb deformities, @PHENOTYPICFEATURE$, polyuria, and polydipsia.	false
+d98ca69ba5e00f6e98cb95bd232943971b7c4f20	We report a rare case of two young male siblings with @DISEASE$ who presented with bilateral @PHENOTYPICFEATURE$, failure to thrive, polyuria, and polydipsia.	false
+c689d8e6d0e3982a8061c89ce3037cc8ef1c90c3	We report a case of massive ovarian @PHENOTYPICFEATURE$ in a teenage girl with @DISEASE$.	false
+87dc759d323f67bc6a9e04848e4767eefd34290e	In addition to the more common intracranail vaso-occlusive complications, skull infarction should be considered as a cause of newonset headache in patients with @DISEASE$, especially if scalp @PHENOTYPICFEATURE$ is present.	false
+948ddbcf93b3320154bcd12659c17f25e6475858	These include Walker-Warburg syndrome, @DISEASE$, and Fukuyama @PHENOTYPICFEATURE$.	false
+e807bd3517e8643c84a2bc51e4cf8152f90a65af	Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and @PHENOTYPICFEATURE$, or @DISEASE$.	false
+183c27c50d33e44bbc66d2e9ff21ed074711fae5	Among the group of CMDs with abnormalities of brain formation and mental retardation, genetic, immunohistochemical, and clinical differences are now beginning to emerge to help in the distinction between Fukuyama @PHENOTYPICFEATURE$, the Walker-Warburg syndrome, and @DISEASE$.	false
+10267ce76492217cc0fb70d987b5ef44fa9ce131	A similar but much milder phenotype with pachygyria of the brain, various degrees of eye changes and milder @PHENOTYPICFEATURE$ that is compatible with achievement of simple motor milestones has been described under the name of @DISEASE$ (MEB) in Finland.	false
+7f2b4e6edb8c16e42bd541ce0ca4587d7b57f473	Cobblestone (type II) lissencephaly is most commonly seen in patients with the Walker-Warburg syndrome, and also occurs in a group of disorders associated with congenital muscular dystrophy, including Finnish '@DISEASE$ and Fukuyama @PHENOTYPICFEATURE$.	false
+75a90c362b8adaf5129d841a218fe6576c5a4198	Clinical variability of the @DISEASE$ phenotype is associated with a @PHENOTYPICFEATURE$ heterogeneity.	false
+535b430fd9b93a1182d8cdb826a41c32d5ca5f8b	Nine other patients with an association between partial monosomy 22 and a @DISEASE$ have been reported earlier, and this combination probably constitutes a deletion syndrome similar to the Prader-Willi and the aniridia-Wilms' @PHENOTYPICFEATURE$ syndromes.	false
+d628bbbfda34273952d587adbd920a78503a37cf	Velocardiofacial syndrome (VCFS, or @DISEASE$) is the most common syndrome associated with @PHENOTYPICFEATURE$ and is characterized by the following major features: cleft palate, cardiac anomalies, typical facies, and learning disabilities.	false
+73dc322aed7804e850cceabbdb0caed75b5e4c20	Pachygyria and @PHENOTYPICFEATURE$ in Goldberg-@DISEASE$.	false
+06ea31a95bc6aaf1384e35b4f55808dfd6f55aa7	The @DISEASE$ (DS) is associated with variable phenotypic expression as findings range from severely affected individuals with the classical triad of DiGeorge and velocardiofacial syndromes, including congenital heart disease, immunodeficiency, hypocalcemia, and @PHENOTYPICFEATURE$, to subtly affected adults who only come to attention following the diagnosis of a more severely affected child.	false
+e3bda5ae2a2b3948a0a901016edb3b6683cf5f06	He had a unique facial appearance, similar to those with @DISEASE$, and hypertonicity, limitation of extension at major joints, and @PHENOTYPICFEATURE$ of all fingers.	false
+41693709ccdca6fa67bbcf971df24bd9f509e3dd	Partial @DISEASE$ (pDGS), which is characterized by a number of gene deletions in chromosome 22, including the chicken @PHENOTYPICFEATURE$ virus number 10 regulator of kinase (Crk)-like (CrkL) gene, is one of the most common genetic disorders in human subjects.	false
+b96d2866e4db96039359866931065fe3667f784b	The @DISEASE$ (22q11.2DS) is a congenital multisystem anomaly characterized by typical facial features, @PHENOTYPICFEATURE$, congenital heart defects, hypocalcemia, immunodeficiency, and cognitive and neuropsychiatric symptoms.	false
+de2a6556d9f20faa21c428bdbe9f0b9b966fd4d8	Pax8Cre-mediated conditional loss of @DISEASE$ critical region 8 (Dgcr8), an essential component of the nuclear machinery that is required for microRNA biogenesis, resulted in severe hypothyroidism, massively reduced body weight and ultimately led to @PHENOTYPICFEATURE$ and death of the animals.	false
+5d37e459bfea350105dd41d08f1266305056c201	This observation confirms the previous finding of @PHENOTYPICFEATURE$ in @DISEASE$, and suggests an overlap between the VCFS and 3C syndrome.	false
+1a4529aeb7eaeab6629edc9c57a32f9ce7bde3bb	@DISEASE$ (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, @PHENOTYPICFEATURE$, and early-onset osteoarthropathy.	false
+5ba7c1ed7234200238689eaa6081db2306728905	Multiple Epiphyseal Dysplasia (@DISEASE$) is a relatively mild skeletal dysplasia characterized by mild short stature, @PHENOTYPICFEATURE$, and early-onset osteoarthropathy.	false
+ace96a62bb7ad7f4a8449d087dc4f4a4614ea70f	All histology sections had mild intimal and @DISEASE$ @PHENOTYPICFEATURE$.	false
+c164e16b165f00c553ecb2e1aca00def10262a32	Isosmotic @DISEASE$ prevent @PHENOTYPICFEATURE$ in amphibian larvae without cardiac function.	false
+7de34a775faae9c78e5edbcbd0eee656a344b4e9	We have previously described an autosomal recessive syndrome of @PHENOTYPICFEATURE$, @DISEASE$ (MED), and distinctive facies in a large, extended Omani family.	false
+971ea687ff353c56401e04e8a8bb94fef1f2d058	We have previously described an autosomal recessive syndrome of @PHENOTYPICFEATURE$, multiple epiphyseal dysplasia (@DISEASE$), and distinctive facies in a large, extended Omani family.	false
+4e3ece4cefc01e4d25dc084e6d83fae61bcf1316	Lowry-Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (@DISEASE$), @PHENOTYPICFEATURE$, and congenital nystagmus.	false
+541e21ce62e7d74909133a5ab5880296f0c7b784	Lowry-Wood syndrome (LWS) is a rare condition characterized by @DISEASE$ (MED), @PHENOTYPICFEATURE$, and congenital nystagmus.	false
+7e9bcff0e3c1b950777229103adfa7d9af04344d	A mutation in KIF7 is responsible for the autosomal recessive syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and distinctive facial appearance.	false
+7ebb5f6f77dd22791b611be7f5d9c2c6356f80bc	Characteristic features include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9e5d57e9e2c3263181dc32f827d5905ec1ea1e69	We have identified a gene locus for a recessive syndrome of @PHENOTYPICFEATURE$, @DISEASE$, and distinctive facies in a large Omani family.	false
+386e457a3af4c523266fcd8e201af08ad5122d44	Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, @PHENOTYPICFEATURE$, and stiffness.	false
+a381cce1779fb99cd09fa68e16a377f0c0af7bf5	Pseudoachondroplasia (PSACH) and @DISEASE$ (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, @PHENOTYPICFEATURE$, and stiffness.	false
+9de15b971a36e692e97b307448c14f3400d5b123	Autosomal recessive syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and distinctive facial appearance.	false
+beef2545fdc0388e81f90c6252ea8c5d4cd30a86	Deficiency of CAII gives rise to a syndrome of @DISEASE$, renal tubular acidosis (RTA), and @PHENOTYPICFEATURE$ with associated developmental delay.	false
+a8a45379a9851981b95603b1cc0acb54d9d1fe92	The syndrome of @DISEASE$ associated with renal tubular acidosis and @PHENOTYPICFEATURE$, inherited as an autosomal recessive disorder, as seen in two sisters, is described.	false
+8e980e7985c43fcbae1c0f8272fe8ac6ab75c1ed	Carbonic anhydrase II deficiency syndrome (@DISEASE$ associated with renal tubular acidosis and @PHENOTYPICFEATURE$).	false
+3a364972ae01a0c1e1afb1f8d444c779b30b6e2c	Several mutations in the carbonic anyhdrase II gene are associated with the autosomal recessive syndrome of @DISEASE$, renal tubular acidosis, and @PHENOTYPICFEATURE$.	false
+d8f21c4326b9902235a8bd048d6fff33d4fd8425	The syndrome of @DISEASE$, renal acidosis and @PHENOTYPICFEATURE$ in two sisters.	false
+600c4b9d70fd89d8da85a59eb3948ba077120f9e	Symptoms of metabolic acidosis respond to therapy, but no specific treatment is available for the @DISEASE$ or @PHENOTYPICFEATURE$.	false
+c338e53c2725cd4401b627772ff91aca0a32096e	@DISEASE$ causes short stature, @PHENOTYPICFEATURE$ and mental retardation.	false
+cb6810fb1de1a94ec848505f65c2fe53bebc4a7f	Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of @DISEASE$, renal tubular acidosis, and @PHENOTYPICFEATURE$.	false
+6175b4f3e58b5b77b1f974b2ef144262df9f7b9a	@PHENOTYPICFEATURE$ in children with @DISEASE$ caused by carbonic anhydrase II deficiency.	false
+df8e04d77bd424b65a5bc04a1f5bf21bbf8f59ef	The radiographic combination of @DISEASE$ and @PHENOTYPICFEATURE$ should suggest the diagnosis, which can be confirmed with a blood sample demonstrating carbonic anhydrase II deficiency.	false
+1054963ac67d0e84a3cef93d27c95fa01c34db57	Outcomes included a binary composite variable of any @DISEASE$ and the following 8 individual malformations: @PHENOTYPICFEATURE$, diaphragmatic hernia, renal agenesis, other urogenital anomaly, tracheoesophageal fistula/esophageal atresia, omphalocele/gastroschisis, cardiac defect, and cleft lip/palate.	false
+ee2e85d2755adb5659cc365e51315faa8e9d60c4	Prenatal overlap of feature of severe Noonan syndrome and @DISEASE$ is confirmed, with dysmorphological similarities, due to @PHENOTYPICFEATURE$ of fetal skin in face and extremities.	false
+6b56baaa4d54cc8cec4f13fec929b541bb6f5384	Fetal @PHENOTYPICFEATURE$, not overgrowth, is associated with neonatal lethal @DISEASE$ due to the HRAS p.Gly12Val mutation.	false
+3dbeaa5ccfc0dacb3434180db97b53f86d4d1a33	In randomized order, @PHENOTYPICFEATURE$ surgery with combined PPC/POBH was performed in one eye; in the other eye, cataract surgery was performed with @DISEASE$ and in-the-bag implantation of the intraocular lens (IOL).	false
+0b27bcc13fc9ceebdae7620200ae1c594dcd2de0	In randomized order, cataract surgery with combined PPC/POBH was performed in one eye; in the other eye, @PHENOTYPICFEATURE$ surgery was performed with @DISEASE$ and in-the-bag implantation of the intraocular lens (IOL).	false
+83372874e3251bd66ba0083639af222baf9d3f3b	I describe an intraoperative method for the consistent anchoring of the intraocular lens (IOL) and @PHENOTYPICFEATURE$ surgery and on the patient's visual axis using coaxial microscope optics, surgeon-guided patient fixation, the precision pulse capsulotomy (@DISEASE$) device (Zepto) and utilizing the first (and fourth) Purkinje images.	false
+630e7fa49ce71d67947067e7b6d105bd8935a7a5	The performance of a primary posterior capsulorhexis (@DISEASE$) with and without posterior optic buttonholing (POBH) may significantly influence the intraocular pressure (IOP) after @PHENOTYPICFEATURE$ surgery in age-related cataract patients.	false
+56ccbf496b79a734861be80ae0c7f5241a87e034	Posterior polar cataracts (@DISEASE$) have always been a challenge for @PHENOTYPICFEATURE$ surgeons due to their inherently higher propensity for posterior capsule rupture.	false
+4bf32f68a7989b50c7c991679b67e45f4f3fb917	To report our operative experience with precision pulse capsulotomy (@DISEASE$) for anterior capsulotomy in a paediatric @PHENOTYPICFEATURE$ series.	false
+11523a97687c8885cd90e59ae0dbcc9e367d50d3	Visual axis opacification (VAO) occurs in up to 40% of pediatric patients after @PHENOTYPICFEATURE$ surgery withintraocular lens implantation(IOL) even with a primary posterior capsulotomy (@DISEASE$).	false
+ca089b7bd0f4665d66dcf00fc38a0cb5dacd9fc3	Ophthalmologic abnormalities are reported in @DISEASE$ children, and range from pupillary and iris abnormalities to @PHENOTYPICFEATURE$, strabismus and convergence deficiency.	false
+220123ec214e827e518c165e3da103b80741e818	The onset of hair cell degeneration in Ildr1 null mice was earlier than that in the reported Tric mutant mice, which mimic one of the tricellulin mutations in @DISEASE$ @PHENOTYPICFEATURE$.	false
+a8c948906d2de0460080bce9d8f71d174a8a5bdc	These included epidermolysis bullosa (EB) in two, oesophageal atresia with distal trachea-oesophageal fistula in one, @DISEASE$ in one, @PHENOTYPICFEATURE$ and dysplastic kidney in one patient.	false
+ca4bd49e76521c26bbeb4e85ff4056ba99a1d243	Female C3Hf/Kam mice bearing syngeneic ovarian @DISEASE$ @PHENOTYPICFEATURE$ were injected with either [3H]TXL or PG-[3H]TXL at an equivalent TXL dose of 20 mg/kg.	false
+b599a54c00bffb04cdde7f462ead5675d8e2daf7	This change was significant for MCa-4 and @DISEASE$ @PHENOTYPICFEATURE$ (p < 0.001), but not for SCC-VII (p = 0.054).	false
+61551ed9876b719e1f6af69582a523c5e705bd26	@DISEASE$ @PHENOTYPICFEATURE$ reproduced granulocytosis up to 640,000/mm3 in nude mice, and CSF production was demonstrated by colony-forming assay using tumor extract and mouse bone marrow cells in vitro.	false
+c2a545ec122066166b6e76805a9dbed893ce1492	@DISEASE$ tumor reproduced granulocytosis up to 640,000/mm3 in nude mice, and CSF production was demonstrated by colony-forming assay using @PHENOTYPICFEATURE$ extract and mouse bone marrow cells in vitro.	false
+5b2989fb5dd616d14a6e44773523c4d986cd0cb2	Mice bearing 8-mm syngeneic ovarian carcinoma @DISEASE$ @PHENOTYPICFEATURE$ implanted intramuscularly were treated with i.v.	false
+f933f9adb59736fdea558f8dffd6e6b29ebe593f	BEZ235 significantly inhibited tumor growth in mice bearing OVISE and TU-@DISEASE$ cell @PHENOTYPICFEATURE$.	false
+aceba583adc7f29b5c7220fb14a1b5b08ac9160c	BEZ235 significantly inhibited @PHENOTYPICFEATURE$ growth in mice bearing OVISE and TU-@DISEASE$ cell tumors.	false
+1edbd93b233742dae8bef59855c9f68f43944dc5	Similarly, mice bearing syngeneic @DISEASE$ ovarian carcinoma (mean size, 500 mm3) were @PHENOTYPICFEATURE$-free within 2 weeks after a single i.v.	false
+35618756c2f286913d896200e350fb766bfcb73c	Two different solid @PHENOTYPICFEATURE$ models, human Colo-205 xenograft and syngeneic murine @DISEASE$ ovarian tumors, were used in this study.	false
+3526c18bb472eb9c566da2ca58ea4bff8c0190f2	Biodistribution of paclitaxel and poly(L-glutamic acid)-paclitaxel conjugate in mice with ovarian @DISEASE$ @PHENOTYPICFEATURE$.	false
+c142b2da318e32399d970e330181da0844ea981b	We found that exposure to venous shear (shear rate, 200/s) induced internalization of E-cadherin in adherent metastatic oesophageal tumor cells (@DISEASE$ @PHENOTYPICFEATURE$ cell line).	false
+9ecff283cea222613609ce754d750bc2f2821d46	We found that exposure to venous shear (shear rate, 200/s) induced internalization of E-cadherin in adherent metastatic oesophageal @PHENOTYPICFEATURE$ cells (@DISEASE$ tumor cell line).	false
+41f0c2a65a32e99838bc4bab03f416156aa0f6b5	Here we report that local @PHENOTYPICFEATURE$ irradiation enhanced the distribution of PG-TXL given 24 h later to ovarian @DISEASE$ carcinoma implanted i.m. in C3Hf/Kam mice.	false
+d94db5617056c75c02c81836163c0d506dff5374	This case expands the clinical spectrum of @DISEASE$ by presenting in adulthood with subtle @PHENOTYPICFEATURE$; no visceromegaly and profound dementia.	false
+73b72e3e376caee87282be0c19f96d3ee79f7356	Sixty-nine @DISEASE$ patients: 60 were males and 12 had recurrent @PHENOTYPICFEATURE$.	false
+c0a200a5f5e9775485e610d80f3fa1f4094a0303	The possible etiology of @DISEASE$ includes a primary @PHENOTYPICFEATURE$ or metastatic lesion that directly invades the base of the skull.	false
+12e30e34b71e13f20f70b33736ba395499a70bb8	Ovarian carcinosarcomas (@DISEASE$), also known as malignant mixed m?llerian @PHENOTYPICFEATURE$, are uncommon malignancies that carry a poor prognosis.	false
+5e9ab7e9624eaa1a4a2c9c92bae3ff2971e279fb	Two murine @PHENOTYPICFEATURE$ syngeneic to C3H/HeJ mice were used: an ovarian carcinoma @DISEASE$-I, and a hepatocarcinoma HCa-I.	false
+bb109adab9e3916775398d7f9191361fead08a0c	C3Hf/Kam mice bearing @DISEASE$-I @PHENOTYPICFEATURE$ received paclitaxel and cisplatin.	false
+baf2ddf995212a2e111d2a35f977cc3622ffebba	The presence of @DISEASE$ was visualized by ultrasonography in all 25 patients and serum @PHENOTYPICFEATURE$ markers were negative in 22.	false
+e47468f19ee6b7247693b59e63197b731a37b350	Positive @PHENOTYPICFEATURE$ CD8+ T lymphocytes and mesenchymal PD-L1-negative expression seem to be associated with better survival in @DISEASE$.	false
+0be2b717516ec2ce2844c97aa09c67bc831dd84a	The index then declined to a baseline of 1%-3% at 3 days for MCA-4 @PHENOTYPICFEATURE$ and 1 day for @DISEASE$-I tumors.	false
+d83a7142f58b6536fec894b64429cf3b95a134f0	The index then declined to a baseline of 1%-3% at 3 days for MCA-4 tumors and 1 day for @DISEASE$-I @PHENOTYPICFEATURE$.	false
+de6e793613b1a4e0fc7bf980913abe81e75b2d84	Ovarian carcinosarcomas (@DISEASE$) are rare @PHENOTYPICFEATURE$ composed of both malignant epithelial and mesenchymal elements.	false
+f0a09fb5880823f7138d6eb2f6ae2ca0ed64cb16	Tumor treatment endpoints included growth delay, cure, and spontaneous lung metastases (@DISEASE$-I @PHENOTYPICFEATURE$).	false
+c53637202ad9ca4fcc4fbeef8fc3206cf76d84e4	(1) The hearing and vestibular disturbances in @DISEASE$ is more prevalent than previously recognized; (2) Hearing loss in high frequencies in Behcet's patients is an indicator of cochlear involvement in this disease; (3) There is a higher prevalence of central vestibular syndrome in Behcet's patients than it was thought before; (4) HLA-B51 antigen may be able to be a prognostic factor for @PHENOTYPICFEATURE$ in Behcet's patients.	false
+4a885bab42adfcefd891e8abccee9043f188d0fe	Generally, pyoderma gangrenosum is known to be common among patients with systemic diseases such as inflammatory bowel diseases, polyarthritis, diverticulosis, paraproteinaemia, myeloma, @PHENOTYPICFEATURE$, active chronic hepatitis, and @DISEASE$.	false
+d350210806453ddeb87fa9cc75bf89940e1d02c6	Salient results included: 1) linear pressure-flow relations (r greater than or equal to 0.99); 2) mean transit times for PMN on the order of 10-20 milliseconds at a pressure gradient of 4 cm H2O and thus transit times at least 10-fold longer than for RBC under the same conditions; 3) broad distributions with marked skewness toward longer transit times, indicating a wide range of rheologic properties; 4) increased transit times in either hypotonic or @PHENOTYPICFEATURE$ @DISEASE$) marked increases of transit times following activation with FMLP; 6) considerable differences between the volume distribution and the transit time distribution of PMN.	false
+0171eafc666993dd636d505bb601e61386a257cc	@DISEASE$ (GA1) is a metabolic inborn error and is characterized by increasing excursion of glutaric acid and its derivates, presented in @PHENOTYPICFEATURE$ and dystonia.	false
+46cc01a22534bcd206026e101894127683bd764a	We have cases of achondroplasia, @DISEASE$, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+9aaafbd3edd91d71a3ad2020b48741286fe2792d	@DISEASE$ (N = 7), @PHENOTYPICFEATURE$ (N = 5) and dyschondrosteosis (N = 5) were the most frequently represented specific skeletal dysplasia subgroups.	false
+80d7870f353e58e634e0ab4a5ec7c672203f9090	Erythroderma in Omenn syndrome may be caused by either mutations in genes associated with severe combined immunodeficiency (SCID) in which the generation of some T cells is possible, which results in potentially autoreactive lymphoid clones, or by selective proliferation of revertant CD8 T cells in the skin due to clonal expansion in response to infections or autoantigens.The newborn eczematous eruption, which occurs mainly in the signal-transducer-and-activator-of-transcription-3 (STAT3) variant, helps to differentiate STAT3 from Dedicator of Cytokinesis 8-related Hyper-IgE-syndrome (HIES).Impaired T helper 17 cell (TH17) immunity [HIES and defects of autoimmune regulator element (AIRE), STAT-1, and interleukin17 receptor(IL17(R))] may give rise to localized chronic mucocutaneous candidiasis, whereas a defective innate immune system predisposes to systemic candidiasis [congenital neutropenia, neutrophil dysfunction, and caspase recruitment domain 9 (CARD9) deficiency].Noninfectious granulomas may be the presenting symptom in innate immunity defects [such as @DISEASE$ (CGD) or in predominantly humoral immunodeficiencies such as common variable immunodeficiency], as well as @PHENOTYPICFEATURE$ teleangiectasia or rare recombination-activating gene-deficient cases.	false
+2bd449c3765440baef7e5765ef5da5a85846cc7f	Erythroderma in Omenn syndrome may be caused by either mutations in genes associated with severe combined immunodeficiency (SCID) in which the generation of some T cells is possible, which results in potentially autoreactive lymphoid clones, or by selective proliferation of revertant CD8 T cells in the skin due to clonal expansion in response to infections or autoantigens.The newborn eczematous eruption, which occurs mainly in the signal-transducer-and-activator-of-transcription-3 (STAT3) variant, helps to differentiate STAT3 from Dedicator of Cytokinesis 8-related Hyper-IgE-syndrome (HIES).Impaired T helper 17 cell (TH17) immunity [HIES and defects of autoimmune regulator element (AIRE), STAT-1, and interleukin17 receptor(IL17(R))] may give rise to localized chronic mucocutaneous candidiasis, whereas a defective innate immune system predisposes to systemic candidiasis [congenital neutropenia, neutrophil dysfunction, and caspase recruitment domain 9 (CARD9) deficiency].Noninfectious granulomas may be the presenting symptom in innate immunity defects [such as chronic granulomatous disease (@DISEASE$) or in predominantly humoral immunodeficiencies such as common variable immunodeficiency], as well as @PHENOTYPICFEATURE$ teleangiectasia or rare recombination-activating gene-deficient cases.	false
+2f6fab827e7c05e2ad42e23c385ea23c020d3d72	Liver involvement in @DISEASE$ includes @PHENOTYPICFEATURE$, which may lead to noncirrhotic portal hypertension.	false
+5c559352aeec516d348284a9b852f14a615c6412	A young man recently presented with bilateral mid @PHENOTYPICFEATURE$ and renal insufficiency secondary to inflammation due to @DISEASE$.	false
+8ef6dd5c693cdf5f15200d30b5749637501f0edc	In the present report, we describe the first case of a phaeohyphomycotic brain abscess in a 5-year-old boy with chronic granulomatous disease (@DISEASE$) admitted to hospital with @PHENOTYPICFEATURE$.	false
+5d536555715520eaf8952542fd0ec814384e2714	In the present report, we describe the first case of a phaeohyphomycotic brain abscess in a 5-year-old boy with @DISEASE$ (CGD) admitted to hospital with @PHENOTYPICFEATURE$.	false
+0d266c7f2b7f559c124c685106973e1f7e5da834	Intentional communicative acts were assessed in 13 children with @DISEASE$ (CdLS) with a severe @PHENOTYPICFEATURE$ and compared to a control group of Down and 5p (Cri-du-Chat (CdC)) syndrome children.	false
+fa4638aec04fd692abcdc6fbf25435ef7d6d85ed	@DISEASE$ (CdLS) is a rare congenital disease characterized by typical facial dysmorphism, developmental @PHENOTYPICFEATURE$, and limb deficiency defects.	false
+d01cf8b89eb52f23926051688196f311f0e39b4f	@DISEASE$ (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive @PHENOTYPICFEATURE$, global developmental delay, and anomalies involving multiple body organs.	false
+6a6c994e1face771d398ae5939fb215597581d94	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, @DISEASE$, and microphthalmos.	false
+83784ae1e19843233910f4770ba5691af0b41455	A literature review has been done on Medline with the following keywords: neuromuscular disease, @PHENOTYPICFEATURE$, myopathy, fatigue assessment, exercise intolerance, force assessment, fatigue scale and questionnaire, then with the terms: Fatigue Severity Scale, Chalder Fatigue Scale, Fatigue Questionnaire, Piper Fatigue Scale, electromyography and the combination of the word Fatigue with the following terms: Amyotrophic Lateral Sclerosis (ALS), Post-Polio Syndrome (PPS), Guillain-Barre Syndrome, Immune Neuropathy, Charcot-Marie-Tooth Disease, Myasthenia Gravis (MG), Metabolic Myopathy, Mitochondrial Myopathy, Muscular Dystrophy, @DISEASE$, Myotonic Dystrophy.	false
+6f2a432ef40efef287888f6c5881b3de85b07ef3	The present study described a "tripe trouble" with @DISEASE$, @PHENOTYPICFEATURE$, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype.	false
+f88ef302a9b2ba3ccac40c66a6c71d0286a55796	The avoidance of hypoxemia, @DISEASE$ hypotension, intracranial hypertension, hyperthermia, @PHENOTYPICFEATURE$, hypoglycemia and thromboembolic complications is essential in preventing this cascade.	false
+f5db1516611f457fd0991b0fff583cc82505e40f	The avoidance of hypoxemia, @DISEASE$ hypotension, intracranial hypertension, @PHENOTYPICFEATURE$, hyperglycemia, hypoglycemia and thromboembolic complications is essential in preventing this cascade.	false
+6840d71de3eb28e45c49e0bcd720b325b744c66c	Treatment of neurosyphilis with penicillin combined with @DISEASE$ @PHENOTYPICFEATURE$.	false
+e99d837b8df05f8b23cc4807c44c531e520ebd2a	A study was made of the indices of hemodynamics, the immune status and thiol-disulfide system of the blood of cancer patients subjected to @DISEASE$ total @PHENOTYPICFEATURE$-hyperglycemia.	false
+d318b908aeef85859d621944c30d39d534ba37f1	A study was made of the indices of hemodynamics, the immune status and thiol-disulfide system of the blood of cancer patients subjected to @DISEASE$ total hyperthermia-@PHENOTYPICFEATURE$.	false
+a9812b70130d2677e74282b2e123465883807470	Following the formation of @DISEASE$ @PHENOTYPICFEATURE$ lesion, participants wore enamel slabs for an in situ remineralisation study.	false
+615eccab7903684d1dc9b6e0daa3cd379143bad4	@PHENOTYPICFEATURE$ and @DISEASE$ cholesterol accumulation are primary causes of cardiovascular events.	false
+b36db56716fa0ff8ee59025e01fadf0c563bee72	[Modification of doxorubicin action with @DISEASE$ @PHENOTYPICFEATURE$].	false
+82f262200e7e97d357e670fd65b364e366fcbbc3	@PHENOTYPICFEATURE$ in patients with @DISEASE$, venous, and combined arterial and venous thromboses.	false
+4b85342f4a8f726cfcc954622700e1136e5aa57f	We tested the hypothesis that preventing severe arterial acidemia prevents cerebral @PHENOTYPICFEATURE$, whereas augmenting @DISEASE$ acidemia augments cerebral acidosis.	false
+91ff30fcc5c4ed3c3ef2fee7475de20808378854	We tested the hypothesis that preventing severe @DISEASE$ acidemia prevents cerebral @PHENOTYPICFEATURE$, whereas augmenting arterial acidemia augments cerebral acidosis.	false
+f294e687b7edf105cbf6089585b43b34791e9c6f	[Thyroid gland function and @DISEASE$ @PHENOTYPICFEATURE$].	false
+64e9debaec55515c4db341cdc6f192c9c8c5fe1a	We combined the WBH with 300-400 mg/dl @DISEASE$ @PHENOTYPICFEATURE$.	false
+6ac3563174358cac3757bc0662976a1e8523ec4d	@DISEASE$ and @PHENOTYPICFEATURE$ in a rare case of torsion of wandering spleen.	false
+319a0719bd213714d02f86f8c0db7429898f2ec5	@DISEASE$ is characterized by massive painless cervical lymphadenopathy, but can also include nasal obstruction, tonsillar enlargement, or @PHENOTYPICFEATURE$.	false
+eb97919f77e4cea342ab0d4d7d8fcaf9fa58bc1d	We present a case of @DISEASE$ affecting the pulmonary arteries in a 22-year-old woman with severe, symptomatic right @PHENOTYPICFEATURE$.	false
+7da4f8d5449db606e96747706a57ee78ec55ccc2	Case presentation commentary on "@DISEASE$ and left ventricular noncompaction cardiomyopathy: A @PHENOTYPICFEATURE$ conundrum."	false
+19136daaf85882768e8ea37463ecb8fc0041bd5d	@DISEASE$ and left ventricular noncompaction cardiomyopathy: A @PHENOTYPICFEATURE$ conundrum.	false
+2676ded93fe28e607eac967fe4d9157a7a32c339	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial @DISEASE$, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+a00fe50a1ea0fc8d4ed715ba7132435369702b0d	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and @DISEASE$ (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+0fd76d39373ce9b3a8a1ec55bd6ed6cc808e9fe9	@DISEASE$ with an enlarging @PHENOTYPICFEATURE$-like lesion: immunohistochemical study.	false
+2ec59cc69f9b6c6e166042496ecdddf8e468a2be	Pathology examination revealed that the @PHENOTYPICFEATURE$ was @DISEASE$ and was composed of fibroblast-like spindle cells, macrophages, lymphoplasma cells, and collagen fibers.	false
+d4aa6635788d1742ffced63f6a61591456c7ad97	@DISEASE$ co-existing with carcinoid tumour: complete resolution with bronchoscopic @PHENOTYPICFEATURE$ resection.	false
+3886e7cdb4d6c615af4762b97333c292df43576c	Postoperatively, pathological examination of the @PHENOTYPICFEATURE$ showed an @DISEASE$.	false
+1462ff29520de8b54c69e604f8ece163d4e0a741	Bronchoscopic relief of obstruction was performed by mechanical debulking of the @PHENOTYPICFEATURE$, with subsequent complete resolution of bilateral opacities, consistent with resolution of @DISEASE$ without the need for steroid therapy.	false
+cfc9021dedb7519686a930955fd3d50024d55661	and maximum @PHENOTYPICFEATURE$ dimension was significantly large for lung cancer mimicking @DISEASE$ (30 vs. 23.6?mm, P =?0.001).	false
+c21cb20dd62bf9480eaa50d4b58b68dc995167a4	Causes of death were primary liver graft failure (1), @DISEASE$ syndrome (2), and solid @PHENOTYPICFEATURE$ malignancies (2).	false
+af9e67114cde836523b55308c2617f60edf44368	A cyclosporine-based immunosuppressive regimen was initially employed in all patients; 24 were subsequently switched to tacrolimus because of central nervous system toxicity, cyclosporine-related myopathy, or @PHENOTYPICFEATURE$, @DISEASE$ syndrome, gingival hyperplasia, or hypertrichosis.	false
+999cd623b55b112ef7fb8d514028a1f215924348	Refractory sweet syndrome with autoimmune @DISEASE$ treated with monoclonal antibodies to @PHENOTYPICFEATURE$ necrosis factor.	false
+cc66414e4392e40daa67784feba426897ad6c31d	In order to assess the frequency of peripheral @DISEASE$ (OP) in patients with resected lung @PHENOTYPICFEATURE$ and to describe its differential features, a cross-sectional study with prospective data collection was realized in a community teaching hospital.	false
+ce52cf415b1f72b2859f1e6cd67fe172b77056af	Exposure to valproic acid monotherapy was recorded for a total of 180 registrations, with 122 registrations in the case group, 45 in control group 1, and 13 in control group 2. As compared with no use of an antiepileptic drug during the first trimester (control group 1), use of valproic acid monotherapy was associated with significantly increased risks for 6 of the 14 malformations under consideration; the adjusted odds ratios were as follows: spina bifida, 12.7 (95% confidence interval [CI], 7.7 to 20.7); atrial septal defect, 2.5 (95% CI, 1.4 to 4.4); @PHENOTYPICFEATURE$, 5.2 (95% CI, 2.8 to 9.9); hypospadias, 4.8 (95% CI, 2.9 to 8.1); polydactyly, 2.2 (95% CI, 1.0 to 4.5); and @DISEASE$.8 (95% CI, 1.8 to 18.8).	false
+36627829a580c77a626941972c7ef422b89fdea0	Emir S, Hac?saliho?lu ?, ?zy?r?k D, Ka?ar D, Erdem A, Karaku? E. Squamous cell carcinoma associated with @DISEASE$: an unusual presentation with a tremendously huge mass over the face and paraneoplastic @PHENOTYPICFEATURE$-hyperleukocytosis.	false
+26905ccc2c72e761a6ad7641cc189c768cd23b79	Squamous cell carcinoma associated with @DISEASE$: an unusual presentation with a tremendously huge mass over the face and paraneoplastic @PHENOTYPICFEATURE$-hyperleukocytosis.	false
+2dba394c71c0d7623c8dd0dd867909ab49b0b290	Eighteen patients had antibodies limited to Ma2: they developed limbic, hypothalamic, and brainstem @PHENOTYPICFEATURE$, and 78% had @DISEASE$.	false
+f92d5fbbefaad2d8e8fed85263944a1e26097dfb	(1) Among the 40 cases, 15 (38%, 15/40) were diagnosed isolated ACC, while 25 (63%, 25/40) were non-isolated ACC.In the non-isolated ACC cases, 18 (72%) had central nervous system abnormalities, including cerebellar vermis hypoplasia,@DISEASE$, cerebellar cyst, holoprosencephaly, etc.Extra-CNS abnormalities were identified in 16 cases, including 5 cardiac abnormalities, 3 facial abnormalities, 2 congenital anomalies of urinary system, 1 limb @PHENOTYPICFEATURE$ and 5 other congenital anomalies.(2)	false
+ef538271b77c1bb56026fbbf95f09ad7c7862957	Since the @DISEASE$ was first described by Dandy and Blackfan, Taggart and Walker, the many variants of @PHENOTYPICFEATURE$, the appropriate management of these malformations and the clinical outcome have been the subjects of controversy.	false
+d2dccfc38bd97923414b7df6d9437198e90dd693	The indications were @PHENOTYPICFEATURE$ in five (polysplenia in one), biliary hypoplasia in one, alpha-1-antitrypsine deficiency in one and @DISEASE$ in one.	false
+95731a6487cb6c3b0606baa8ca8d5b270be6c5fc	@DISEASE$ (FDFM): a novel @PHENOTYPICFEATURE$.	false
+5a432aafb0e4a2f34995382b722dc71c7ba3b495	A total of 94 salivary gland carcinomas with a prominent clear cell component included 51 cases of clear cell myoepithelial carcinomas de novo (CCMC), 21 cases of CCMCs ex @DISEASE$ (CCMCexPA), 11 cases of epithelial-myoepithelial carcinoma (EMC), 6 cases of EMC with solid clear cell @PHENOTYPICFEATURE$, and 5 cases of hyalinizing clear cell carcinoma of minor salivary glands.	false
+cb1baa08f385457012f89f036ff1b7df0346e51c	Neoplasia was diagnosed within 3 years of neurologic onset in 6 of 16 patients (38%): prostate and gastroesophageal adenocarcinomas, myeloma, @PHENOTYPICFEATURE$, colonic carcinoid, parotid @DISEASE$, and teratoma.	false
+e8829d1e418d6a1550d8d163cd8c75c0e12e8b54	[Sever @PHENOTYPICFEATURE$ hypopnea syndrome caused by parapharyngeal @DISEASE$: a case report].	false
+a092b449fb8268bf80399060715ff3945680a82d	Among all cases, 6 were misdiagnosed as @PHENOTYPICFEATURE$ (2.23%), 5 as epilepsy (1.86%), 2 as @DISEASE$ (0.74%), and 2 as developmental retardation (0.74%).	false
+7c74cdb2e81707acb4062e7512cd41a6ff2a57d2	@PHENOTYPICFEATURE$ and @DISEASE$ were the most frequent malignancies and were responsible also for the largest number of deaths.	false
+fdd3273bbd75dcdfc09dcb63ce1d7536278f8366	@PHENOTYPICFEATURE$ or @DISEASE$) was in remission.	false
+4c4ae6e43a5ad69a27d081b5a90d23e2f917b6a0	@PHENOTYPICFEATURE$ and @DISEASE$ were weakly associated.	false
+9cfd40693cd151b115365130a434447c214f2bf9	@DISEASE$ IV-S in a patient with bilateral @PHENOTYPICFEATURE$.	false
+ab148b763909aa63501d183bd3d4488e3e7bc3f2	There is no @PHENOTYPICFEATURE$ which can be considered pathognomonic of a paraneoplastic disorder, but opsoclonus-myoclonus of infancy is often associated with @DISEASE$.	false
+7c79955979903841aa32d65ddd011c6571ed0449	We report a 28-month-old female presenting with @PHENOTYPICFEATURE$ and muscle weakness, diagnosed as having a @DISEASE$.	false
+07595afb4b3888f1e3d4c647d55b447c6eb9ed7d	Two patients who presented with @PHENOTYPICFEATURE$ had @DISEASE$.	false
+f60aa40955d211e17142f5183c6b279cee42d284	SETIL is a population based case-control study on childhood @PHENOTYPICFEATURE$, conducted with two companion studies on non-Hodgkin Lymphoma (NHL) and @DISEASE$.	false
+059557be7d5f6440f7de6c15a4ac779598b0d9d5	We report a case of @DISEASE$ (NB) stage IV-S (2) in an infant with bilateral @PHENOTYPICFEATURE$ and other ocular malformations.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+42721d2c8bd9ff3a5bd0513437f682b6c5663d99	Case of meningothelial @PHENOTYPICFEATURE$ with dermal melanocytosis in a patient with @DISEASE$.	false
+24df35b9399a4ff5b8ae0a0b171b03e5f4bc0e28	Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-linked recessive @PHENOTYPICFEATURE$, thoracoabdominal syndrome, @DISEASE$, and Borjeson-Forssman-Lehman syndrome).	false
+5a4617c24ff3e2c552a092f8d82fe019ae548cb5	Further delineation of @DISEASE$ (multiple @PHENOTYPICFEATURE$ with anterior segment anomalies of the eye and early lethality) in a Malaysian family.	false
+a7cfdb884d7b4cdc170de035e56114880cc14e73	Radiographs revealed generalized @PHENOTYPICFEATURE$, including wide bones and cortical and trabecular bone thickening in keeping with @DISEASE$, except that long bone ends were also affected.	false
+be96f888f3e06bdd09fd0016b9243db7adfa2884	Cranioectodermal dysplasia (@DISEASE$), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, @PHENOTYPICFEATURE$, and ectodermal features.	false
+67f1ebd3dc6263cd3896520aeeac2fae53af3004	Cranioectodermal dysplasia (CED), also known as @DISEASE$, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, @PHENOTYPICFEATURE$, and ectodermal features.	false
+6cb2dd1c3e8cdd11eff9190ec645bc2c13632eba	@DISEASE$ (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, @PHENOTYPICFEATURE$, and ectodermal features.	false
+027eca8299fda0d36ccebca9fce5ffe9a0f118b5	@DISEASE$ is a rare syndrome characterized by craniofacial and @PHENOTYPICFEATURE$ and ectodermal dysplasia.	false
+732f44326a106db6a98ef470596ee0e0d7598ef0	@DISEASE$/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and @PHENOTYPICFEATURE$.	false
+7204a633d2321f7bfc10187800a3da75ee4265b1	Sensenbrenner syndrome/@DISEASE$ (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and @PHENOTYPICFEATURE$.	false
+468640cb8e732bf289aaa8985da06e0449d52a00	Sensenbrenner syndrome/cranioectodermal dysplasia (@DISEASE$) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and @PHENOTYPICFEATURE$.	false
+993215a0ec1fe495f51f094d7d2a343405f84181	We have applied real time convection-enhanced delivery (@DISEASE$) of therapeutic agents with iMRI across a number of different clinical trials settings in neuro-oncology and @PHENOTYPICFEATURE$.	false
+db93b946e0e8c5e4facfb55329ed81ce5c9726c9	Cranioectodermal dysplasia (@DISEASE$) is an infrequently described autosomal recessive disorder characterized by craniofacial, ectodermal and @PHENOTYPICFEATURE$, and associated with increased risk of chronic renal failure.	false
+f72a9a7ef864b99ab36f55d916455f694a2b43ec	@DISEASE$ (CED) is an infrequently described autosomal recessive disorder characterized by craniofacial, ectodermal and @PHENOTYPICFEATURE$, and associated with increased risk of chronic renal failure.	false
+06f290a76660e371a9246e2639fc951b3b10a3eb	Surgery in the acute phase of injury (<4 months), in the presence of a @DISEASE$, could result in delayed corneal reepithelialization and @PHENOTYPICFEATURE$ prognosis.	false
+19ae0fa32b0d826c5afc117d57d693b2e9110991	A retinal pigment epithelial (RPE) tear is a well-known complication of retinal pigment epithelial detachments (@DISEASE$) and may cause a significant @PHENOTYPICFEATURE$.	false
+6dbe74b66bf247e5c291be9e1748ea1efaf7587a	All patients had @PHENOTYPICFEATURE$ due to AMD (n = 5 classic membranes, n = 14 occult, n = 2 mixed, n = 16 pigment epithelial detachment (@DISEASE$), n = 5 subretinal hemorrhage, n = 3 geographic atrophy).	false
+17135d98410a6e909a292b85a5b8d143299a5402	In conclusions, IRCs and @DISEASE$ are associated with @PHENOTYPICFEATURE$ improvement in nAMD in a real-world setting.	false
+0d1413656e31c28e0e620ca78b29c7dfdbe1fb4c	Patients with occult CNV with serous PED in the first eye have a significantly higher risk of @PHENOTYPICFEATURE$ in the second eye than patients with CNV without @DISEASE$.	false
+a283d92bbb4921901eb3c198c31b818fb0d92d33	Patients with occult CNV with serous @DISEASE$ in the first eye have a significantly higher risk of @PHENOTYPICFEATURE$ in the second eye than patients with CNV without PED.	false
+4e6b77e0249d15773c34a64440458999c05e0547	Subfoveal @DISEASE$ occurs less commonly and may have a @PHENOTYPICFEATURE$ prognosis.	false
+c62977330171d63696ea1475a48bd042ede48113	An Unusual Cause of Dyspnea, @PHENOTYPICFEATURE$ and @DISEASE$ Edema in an 85-Year-Old Woman.	false
+4890f1b18488ccbef07c4bbd684bddbdbb256f2c	Volumetric quantitative computed tomography (vQCT) facilitates the assessment of @DISEASE$ bone osteopenia, which, in the presence of peripheral neuropathy, may well be an early sign of diabetic @PHENOTYPICFEATURE$.	false
+7f4c03b05807ce8d304ea92205f396710e70b70d	CSC with subfoveal PED can be associated with a @PHENOTYPICFEATURE$ prognosis especially when the @DISEASE$ becomes chronic.	false
+8ae84f6c58821792c66c3422082e6410e60aa9d6	CSC with subfoveal @DISEASE$ can be associated with a @PHENOTYPICFEATURE$ prognosis especially when the PED becomes chronic.	false
+a2b118e25da22b6b9fa5a41c76b323cfd4371202	To assess the efficacy of intravitreal aflibercept in treating @PHENOTYPICFEATURE$ and structural changes in patients with pigment epithelial detachments (@DISEASE$) secondary to neovascular age-related macular degeneration (nAMD).	false
+415a25c774b53cc0f5ee3de25067a112c37898a2	There are numerous other diseases which go along with AE or show a very similar clinical picture and represent important differential diagnostic considerations including parasitic diseases, @DISEASE$, nutritional diseases, certain neoplastic disorders and various @PHENOTYPICFEATURE$.	false
+16eb61b3683116251621ee0f79e26d3760ad5552	The boy presented with early-onset @PHENOTYPICFEATURE$ and secondary @DISEASE$.	false
+4c73de13d7b2214ff9fab106cfa7f73c14cc2a5b	Persistent infection with parvovirus (B19) causing severe anaemia has been reported in patients with @PHENOTYPICFEATURE$ and congenital @DISEASE$.	false
+e980e7f3d19ad4169ffc2c1b98907dc08e95dcc1	Parvovirus infection, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+af5e749f885b159df39fad2638a3d980f509d244	Besides the @DISEASE$, our patients exhibited progressive @PHENOTYPICFEATURE$.	false
+e980e7f3d19ad4169ffc2c1b98907dc08e95dcc1	Parvovirus infection, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+2265781a04612d2fab616f006288cb2a320055bc	Leucocyte adhesion deficiency is an @DISEASE$ of autosomal recessive inheritance characterized by @PHENOTYPICFEATURE$, impired pus formation and delayed wound healing.	false
+0d23fb0e98006f54dbe63fef914effeb5e715ee7	However, extraskeletal features including @DISEASE$, @PHENOTYPICFEATURE$, and hair hypoplasia are absent, despite the severe skeletal involvement.	false
+721b802ebb6e4bfc5054d7260991f421e6411a81	@PHENOTYPICFEATURE$ and @DISEASE$ will result in severe clinical outcomes in renal transplant recipients.	false
+fe3f9161137d6b34ca1ef65eab6947921af11e14	The 2 families described here with father-to-son transmission strongly support the hypothesis that some cases of @DISEASE$ occur in individuals who are heterozygous for dominantly expressed, autosomal @PHENOTYPICFEATURE$.	false
+2eb57bea5c007d14af094d5ef7859546c6a0abe9	Fetal thymus transplantation was performed in three patients with @PHENOTYPICFEATURE$ with abnormal immunoglobulin synthesis, one patient with ataxia telangiectasia, and one patient with immunodeficiency with @DISEASE$ and thrombocytopenia.	false
+98c6633daf1ad97ea1f0e053d5f91b521ff069de	Hyperimmunoglobulin E syndrome (HIES) is an inborn disorder characterized by recurrent skin and respiratory tract infections, @PHENOTYPICFEATURE$, chronic @DISEASE$ and elevated serum IgE.	false
+1ed87e4dbb5906e05b3609ab102e1d67240b1259	(encoding GP130 p.N404Y) who presented with recurrent infections, @DISEASE$, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as @PHENOTYPICFEATURE$ including craniosynostosis.	false
+0499409f1264791d74bf24c4ef1a8a258dacb9b7	As weight increased so did the prevalence of diabetes mellitus, hypertension, @PHENOTYPICFEATURE$, diverticular disease, dyspepsia/gastroesophageal reflux disease (GERD), alcohol issues, asthma, depression, coronary artery disease, and @DISEASE$.	false
+7e9b195501f2700b1cdde6924e8aeabae1919468	Atopic dermatitis (AD), one of the most common chronic @DISEASE$ skin disorders, is associated with cutaneous @PHENOTYPICFEATURE$ as a response to environmental triggers.	false
+ae80c91f731b205a166165a615bc3484a8bebde4	@DISEASE$ (AD), one of the most common chronic eczematous skin disorders, is associated with cutaneous @PHENOTYPICFEATURE$ as a response to environmental triggers.	false
+cefecd465c2b7c741f921cbdf184a31cbbecfe6f	Moreover, we compared the fraction ratios of monomeric periostin to total periostin in IPF with those in other periostin-high diseases: @DISEASE$, systemic @PHENOTYPICFEATURE$, and asthma.	false
+d3da3e9047359f876b92184b4499670f2a6e3120	6 years after surgery for epidermoid lung cancer, a 58-year-old man presented with @DISEASE$ and a high level of IgE, primary hypothyroidism of autoimmune origin, slight @PHENOTYPICFEATURE$ and adrenal insufficiency of pituitary origin.	false
+3cea1938150e3a464434a97189e70bd065948880	In our view, it is doubtful whether treatment with CyA alone is indicated in alopecia areata, lichen ruber, dermatomyositis, @DISEASE$, systemic @PHENOTYPICFEATURE$, bullous diseases, and lupus erythematosus, and in the last two it should be given only in combination with systemic steroids.	false
+ad5bf3fe911a64a1a5f116a2104a600fe907b99a	Hyper IgE syndrome (HIES) is a primary immunodeficiency characterized by @DISEASE$, recurrent skin and lung infections, elevated serum IgE, and connective tissue and @PHENOTYPICFEATURE$.	false
+49c92e86ce5ed983cb9d09fe1e9922742cd9c281	However, it is expressed at higher levels in the dermis of lesional skin of those with @DISEASE$, scars, systemic/limited @PHENOTYPICFEATURE$, melanoma, and cutaneous T cell lymphoma; expression is also increased by damage caused by allergic/autoimmune responses.	false
+159579c6f7bba1a1022e9ed4a181a983f0379c42	Meige's disease, @DISEASE$ praecox, is lymphedema with onset in the first or second decade, often presenting with inflammation, and may have a number of associated related anomalies including distichiasis, extradural cysts, @PHENOTYPICFEATURE$, cerebrovascular malformation, yellow nails, and sensorineural hearing loss.	false
+42fe55b14ba42275c147adc666b40fed42a9dbf5	Transcortical frontal approach for surgical resection of @DISEASE$ has certain long-term influence on patients' life quality, vulnerable to anxiety, depression and @PHENOTYPICFEATURE$, the severity of which was correlated to age.	false
+3fb85f4c600c5f665cf736e0d14e2a278eff4af0	We report a case of an intraventricular tumor with features of atypical @DISEASE$ with a sarcomatous component in a 44-year-old woman who presented with headaches and @PHENOTYPICFEATURE$.	false
+5019d6f3a776a9de3a87e476a96c90e6d038720c	Dental caries and periodontal disease are the most prevalent @DISEASE$ among @PHENOTYPICFEATURE$ children worldwide.	false
+2558950b9ba56035bd5d4ad385499cc8c14fe572	The effectiveness of instructional programming on the reduction of @DISEASE$ in @PHENOTYPICFEATURE$ individuals.	false
+ce073084c01a5f5508f3d4505fd6207484ba0a67	Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral cataracts, @PHENOTYPICFEATURE$, neonatal hypotonia, and renal Fanconi syndrome, and for @DISEASE$, another X-linked condition characterized by kidney reabsorption defects.	false
+414ac4c4f25303fd6f425533745072333c1069d7	Thus, radiologists play a role in diagnosing @DISEASE$ and complications such as chronic periodontitis and abscesses, nonhealing fractures and osteomyelitis, oroantral fistulas, tumoral diseases, @PHENOTYPICFEATURE$ of the jaw, and other conditions.	false
+1c6c9633571be7c83773ccfe99bf53ee9f8c1837	The clinical presentation of BON often mimics that of other conditions, such as routine @DISEASE$, osteoradionecrosis or @PHENOTYPICFEATURE$; therefore, diagnosis can be difficult.	false
+1db663f04e8c15ff8298fbc457468353bb15e1f1	All patients were previously treated with intravenous bisphosphonates (zoledronic acid) for 1-3 y, were negative for @DISEASE$ at clinical examination, and had suspected @PHENOTYPICFEATURE$ of the jaw.	false
+f65c0c7f919d5a20b6614ffdb6ae33f22c9a6d3d	Lenz microphthalmia syndrome and oculo-facio-cardio-@DISEASE$ (OFCD) are allelic X-linked syndromes and similarly characterized by ocular, distinctive facial morphology, cardiac, dental malformations and @PHENOTYPICFEATURE$.	false
+f0a397dfd51b29cbf1618ed659b56d6ca00c9414	Evidence suggests that patients with epilepsy actually have higher risks of @DISEASE$ and increased oral health needs, but the frequency and consequences of poor controlled @PHENOTYPICFEATURE$ on dental and periodontal health have not been reported before.	false
+ebeee47a5dd39aad1598e1375083ae4db2d17296	Chronic-degenerative @DISEASE$, including periodontal diseases and oral @PHENOTYPICFEATURE$, are widespread in human populations and represent a significant problem for public health.	false
+e4895c6d16e51d686c2eb9b412e9d77080eeb9d1	Nance-Horan Syndrome (NHS) or X-linked cataract-@DISEASE$ is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, @PHENOTYPICFEATURE$.	false
+5b1d820ad4aee064462c7a785fb1cb9ab4c565f3	This is also the general region into which several disease genes have been mapped, including diastrophic dysplasia, Treacher Collins syndrome, hereditary @DISEASE$, the myeloid disorders that are associated with the 5q-syndrome, autosomal-dominant forms of hereditary @PHENOTYPICFEATURE$, and limb girdle muscular dystrophy.	false
+8afedd590f879ea4e5d0b08b470daebc3f39f4cd	Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the @DISEASE$, delayed milestones, mental deficiency and @PHENOTYPICFEATURE$.	false
+713ff86892669da72fda5485a5e45cb9ab6ed55f	In this study, we reported the identification of a novel pathogenic mutation causing @DISEASE$ @PHENOTYPICFEATURE$ in a five-generation Chinese family.	false
+4d54195642ceae8a9f2d648a8559e39a9f61dbcf	Also addition, other features seen in @DISEASE$ such as camptodactyly, @PHENOTYPICFEATURE$ and dry skin were absent in these children.	false
+a36bbf89d6e5a5a40d22d341000feb52f9216a44	@PHENOTYPICFEATURE$ and hypoproteinemia in infants with @DISEASE$.	false
+13a08086a6a461058ec9724bc814bb30d2749456	Insulin @PHENOTYPICFEATURE$ in a patient with @DISEASE$-related diabetes.	false
+43db29943e8c7161364c4e6bfa53c71f89f00c8d	Cotransporter 1 and @DISEASE$ Transmembrane Conductance Regulator-Potential Role in Pulmonary Inflammation and @PHENOTYPICFEATURE$ Formation.	false
+46ad8f3b86ea35f46e102d9fdef8126add18e14a	Mycobacterium abscessus is a pathogenic, rapidly growing mycobacterium responsible for pulmonary and @PHENOTYPICFEATURE$ in immunocompetent patients and in patients with Mendelian disorders, such as @DISEASE$ (CF).	false
+c9330fe2c4bc0ede46ab398d3fe016e38d2157bb	Anemia and @PHENOTYPICFEATURE$ as presenting signs in @DISEASE$: case report.	false
+43db29943e8c7161364c4e6bfa53c71f89f00c8d	Cotransporter 1 and @DISEASE$ Transmembrane Conductance Regulator-Potential Role in Pulmonary Inflammation and @PHENOTYPICFEATURE$ Formation.	false
+7e2ddbaf66a49064d8fe3b934498386ec202f056	The existing literature has demonstrated cost-effectiveness of screening and diagnosis of @PHENOTYPICFEATURE$, Down syndrome, and @DISEASE$ in the general population.	false
+5b37fbd94fc47626df4ed65241ed64703552b66e	Hemolytic anemia and @PHENOTYPICFEATURE$ as the initial signs in infants with @DISEASE$.	false
+eb8dfe488741daa28fb41491bdbbb896c69e85d6	@DISEASE$ with @PHENOTYPICFEATURE$ and falsely negative sweat test.	false
+ce8eee590da29467c8766ca38f205a882f822efd	Anemia, hypoproteinemia and @PHENOTYPICFEATURE$ in an infant with @DISEASE$.	false
+0f93c60ace3d9513617e4ad498b7ddaab4b3fef1	The wearable cardioverter defibrillator (@DISEASE$) is increasingly used for SCD prevention both in patients awaiting ICD implantation or with an estimated high risk of @PHENOTYPICFEATURE$ though to be transient.	false
+db92e97e5747c522a081a807b994f5cd2695ed98	Patients with @PHENOTYPICFEATURE$ events during @DISEASE$ use had a higher 1-year mortality (10%?vs 3%, P?=?0.042).	false
+9ce43afa5c1c4e89e21852ebe3361f01d9717e54	Nine patients (8.8%) had a sustained @PHENOTYPICFEATURE$ that was successfully resuscitated by the @DISEASE$.	false
+4dfb3b26ba06a58508102248ecc5262dc1fb8aa9	We aimed to evaluate @PHENOTYPICFEATURE$ (VA) occurrence rate and compliance with the @DISEASE$ during the first 90 days following myocardial revascularisation with percutaneous coronary intervention (PCI) in patients with left ventricular ejection fraction (LVEF) <30%.	false
+7b3c170fe4345ac794a9c7985cc9cc4093192cc3	The wearable cardioverter-defibrillator (@DISEASE$) has established itself in treatment of potentially life-threatening @PHENOTYPICFEATURE$, when implantation of an implantable cardioverter-defibrillator (ICD) is not warranted.	false
+33ed88dc70b3e64055527f356d61247eff596b08	Older patients had good compliance with the WCD, presented with more frequent @PHENOTYPICFEATURE$, and were more likely to receive an ICD at the end of @DISEASE$ use.	false
+4ce62844aa984dccbfbae8ed28f0d9bc615d287a	Older patients had good compliance with the @DISEASE$, presented with more frequent @PHENOTYPICFEATURE$, and were more likely to receive an ICD at the end of WCD use.	false
+928a84e4de975022168e9b8640e6dbe500595ab5	In WEARIT-II, patients with extended @DISEASE$ use >90?days remain at risk for @PHENOTYPICFEATURE$ events.	false
+ba74aed7540d89a1c20e09a6f38c959b4d0d284e	The case of a 16-month-old female infant with bilateral cystic nephroblastomas, @DISEASE$, microcephaly, bilateral @PHENOTYPICFEATURE$, and cerebellar heterotopia is reported.	false
+dd6231d701f49ffcc50fb35965c7c2a74c6a3111	We report an autopsy case of an 8-month-old male infant with bilateral cystic nephroblastomas, a botryoid sarcoma involving the urinary bladder, microencephaly, the @DISEASE$, bilateral @PHENOTYPICFEATURE$, hypospadias, and male pseudohermaphroditism.	false
+fa804a539cc761b48e7508e2a978ff83cdb808fd	Old age presentation of the @DISEASE$ associated with unilateral sudden @PHENOTYPICFEATURE$ and vertigo.	false
+2bc1f1bb7a8e0973119e99cc1063ca8f820b5d9d	Dosing, augmentation strategies, and treatment scenarios specifically for painful FGIDs, FD with @DISEASE$, and chronic @PHENOTYPICFEATURE$ syndrome are outlined.	false
+f16db16ba6706717a1649dadbc38f9e895377f94	Primary outcome was responders based on overall treatment efficacy (OTE) recorded on a seven-point Likert scale for postprandial distress syndrome (@DISEASE$; postprandial fullness, early satiety and upper abdominal bloating), epigastric pain syndrome (EPS; upper abdominal pain and upper abdominal discomfort) and associated symptoms (nausea, @PHENOTYPICFEATURE$ and excessive belching) at the end of 2 and 4?weeks.	false
+639a897068693c083f733441fcfc0d445e2cdf8b	Most of the tumors (22) in the cynomolgus monkeys were seen in endocrine organs (adrenal cortical adenoma, adrenal hemangioma, @DISEASE$, follicular adenoma), respiratory system (nasal cavity adenoma, pulmonary squamous cell carcinoma, bronchio-alveolar carcinoma, bronchiolar papilloma, chondromatous @PHENOTYPICFEATURE$) and female genital system (uterine polyp, uterine adenoma, uterine leiomyoma and teratoma of the ovary).	false
+ce150961aebc2064be09222c9d1bcdab912afdaa	The consultations concerned the following histopathological types (WHO terminology): 136 malignant epithelial tumours(intraductal carcinoma: 11; invasive ductal carcinoma: 100; invasive lobular carcinoma: 8; @DISEASE$: 3; mucinous carcinoma: 8; papillary carcinoma: 3; tubular carcinoma: 2); one cystosarcoma phyllodes; 19 benign tumours; 15 mammary dysplasias (fibrocystic disease); one tumour-like lesion(@PHENOTYPICFEATURE$); one fibromatous lesion.	false
+25e8b1ce7a5a352be25c9a6e769a8edac404e8a9	@PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+95cbb3a411e937304048482a16b1fe3684cc3a85	This syndrome is characterized by a tetrad of @DISEASE$, post axial @PHENOTYPICFEATURE$, and hidrotic ectodermal dysplasia, mostly involving teeth and nails and a high frequency of congenital cardiac anomalies, most frequently a common atrium.	false
+f05672af67e533d29957881bbe7e69d74cbcb735	Classical EVC syndrome comprises a tetrad of clinical manifestations of @DISEASE$, @PHENOTYPICFEATURE$, ectodermal dysplasia, and cardiac defects.	false
+f05672af67e533d29957881bbe7e69d74cbcb735	Classical EVC syndrome comprises a tetrad of clinical manifestations of @DISEASE$, @PHENOTYPICFEATURE$, ectodermal dysplasia, and cardiac defects.	false
+b762007081e62ce074bb872614b87adaf7f228cc	@DISEASE$ associated with epilepsy and @PHENOTYPICFEATURE$.	false
+ce7c5ad742426feedf5f833fa1691dd58c3020f7	The presence of clinical features of the Marfan syndrome (@DISEASE$) spectrum associated with @PHENOTYPICFEATURE$ has been described in only 2/4 patients.	false
+0f35a6e8b752a5c346a4d4556aff5171b6221d76	The presence of clinical features of the @DISEASE$ (MFS) spectrum associated with @PHENOTYPICFEATURE$ has been described in only 2/4 patients.	false
+e6f41650aabbb46f47460959374cfa857e3b97b9	Spherophakia with @PHENOTYPICFEATURE$; comparison with @DISEASE$.	false
+eef99c5e31b23b8d0806f99485535e8edafaf2b1	The simultaneous diagnosis of polycystic kidney, @DISEASE$ and silent @PHENOTYPICFEATURE$ in a young woman is described.	false
+8fc33e3f5ccf9e9ab572e04bf47185cfbb33db55	Mouse models of Marfan Syndrome (@DISEASE$) provide insight into the type and extent of @PHENOTYPICFEATURE$ manifested in this disease.	false
+3f7f7d6e3f8aca87ef0dadfe2167ddec9fc2ce7c	Lower cranial nerve variants of GBS, atypical @DISEASE$ and @PHENOTYPICFEATURE$ neuropathies may overlap, and are thought of as variant forms of MFS.	false
+c4521a582ada8aaaecfeb0b512517d0ae5bedfe6	Lower cranial nerve variants of GBS, atypical MFS and @PHENOTYPICFEATURE$ neuropathies may overlap, and are thought of as variant forms of @DISEASE$.	false
+2e4d81346be5b373161f57536d1d9e3104547590	Miller-Fisher syndrome (@DISEASE$) typically presents with ophthalmoplegia, @PHENOTYPICFEATURE$, and areflexia.	false
+7e0522dc5517fa87b464abb697d04708971bcdc5	Miller Fisher syndrome (@DISEASE$) is characterised by ophthalmoplegia, @PHENOTYPICFEATURE$ and areflexia.	false
+76f514703d47a3fdf95e2316c81b9a3b2ac8f3c4	Pain is a significant and persistent problem in @DISEASE$ and is associated with profound @PHENOTYPICFEATURE$ and psychological burden.	false
+c61977745c2c3b1ef872fad19f0f0fd55c4ecba5	Ophthalmoparesis without @PHENOTYPICFEATURE$, without areflexia, or with neither have been attributed as atypical forms of @DISEASE$.	false
+d13821fd5d9060eac5f8084f579c0c9db4060517	Fisher-Bickerstaff syndrome (@DISEASE$) was recently proposed to help to diagnose the conditions that overlap Fisher syndrome and Bickerstaff?s brainstem encephalitis, as well as the unclassified conditions that had ophthalmoplegia and @PHENOTYPICFEATURE$ with clear consciousness, flexor plantar response and preserved tendon reflexes.	false
+5d736bf2c9e8bd779435b3c305775931439da344	Spark Therapeutics recently reported positive phase III results for SPK-RPE65 targeting the treatment of @PHENOTYPICFEATURE$ caused by RPE65 gene mutations (often referred to as @DISEASE$, or LCA2, but may include other retinal disorders), marking an important inflection point for the field of gene therapy.	false
+35f1d8cdd24755bc2fa44f844abf614b8ebadf67	Investor interest in gene therapy has increased substantially over the past few years, and the next major catalyst for the field is likely to be Spark Therapeutics's phase III trial for the treatment of @PHENOTYPICFEATURE$ caused by RPE65 gene mutations (often referred to as @DISEASE$, or LCA2, but may include other retinal disorders).	false
+9c0e6b20a0f312f341f8c6703ffb8d0a25f73bbc	A patient with advanced @DISEASE$ (GIST) receiving second-line treatment with sunitinib developed @PHENOTYPICFEATURE$, increase of the serum creatinine, weight gain, nephrotic syndrome with proteinuria of 12 g/24 h, dyslipidemia, hypoalbuminemia and also presented with hypertension.	false
+c6d486a0b76cfa307bcba7e6549386e871addf5d	@DISEASE$ is a rare congenital anomaly characterized by split foot, split @PHENOTYPICFEATURE$ in association with congenital nystagmus.	false
+eaf2be745dbd3d3e51d387ee5f81574d19a4ea9c	We report on 2 sisters with @DISEASE$ comprising split foot and split @PHENOTYPICFEATURE$ in association with congenital nystagmus.	false
+389a72b656ea10ed71e3bd464bc7273274078170	Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and @PHENOTYPICFEATURE$: the @DISEASE$.	false
+ed538033cb59ffc1ca74a237d713b7ef12f03306	These are; ple21 in limbic encephalitis; PCD17, CDR62, CDR34, and CZF in paraneoplastic cerebellar degeneration; one of the anion transporters band 3 in chorea-acanthocytosis; visinin-like substance in cancer-associated retinopathy (CAR syndrome); myelin basic protein (MBP) and proteolipid protein (PLP) in acute disseminated encephalomyelitis; MBP, PLP and myelin-oligodendrocyte glycoprotein (MOG) in multiple sclerosis; glutamic acid decarboxylase in stiff-man syndrome; GM1 ganglioside in amyotrophic lateral sclerosis; peripheral nerve K+ channel in Isaacs syndrome; synaptotagmin in @DISEASE$; acetylcholine receptor in myasthenia gravis; GM1 ganglioside in Guillain-Barr? syndrome; GQ1b ganglioside in Fisher syndrome; myelin-associated glycoprotein in IgM paraproteinemic neuropathy; HuD in paraneoplastic @PHENOTYPICFEATURE$; and tRNA and HSP65 in polymyositis.	false
+a951c1a8b4729778038b47fa69eb29999eeb11f9	Patient 1 showed paraneoplastic limbic encephalitis (PLE), paraneoplastic @PHENOTYPICFEATURE$ (PSN) and @DISEASE$ (LEMS) associated with SCLC.	false
+690aa174069aef627c4e19a9580bab9f5deb4d66	Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, @PHENOTYPICFEATURE$, encephalopathy, @DISEASE$, and seizures.	false
+e1b860bbb4b733da6bcae10e45d61189b9c07608	Recommendations for use of IVIG were made for 14 conditions, including acute disseminated encephalomyelitis, chronic inflammatory demyelinating polyneuropathy, dermatomyositis, diabetic neuropathy, Guillain-Barr? syndrome, @DISEASE$, multifocal motor neuropathy, multiple sclerosis, myasthenia gravis, opsoclonus-myoclonus, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, polymyositis, Rasmussen's encephalitis, and stiff person syndrome; IVIG was not recommended for 8 conditions including adrenoleukodystrophy, amyotropic lateral sclerosis, @PHENOTYPICFEATURE$, critical illness polyneuropathy, inclusion body, myositis, intractable childhood epilepsy, paraproteinemic neuropathy (IgM variant), and POEMS syndrome.	false
+7d08bd1331cf0d98b7dd60a979cfebdb2de3ff1d	Two patients had the @DISEASE$ (LEMS) and one had subacute @PHENOTYPICFEATURE$ (SSN).	false
+353b24ce2bde2f660722e073227c5be36521c214	Anti-cancer therapy and immunological treatments are relatively effective for @DISEASE$, but often disappointing for subacute cerebellar degeneration or @PHENOTYPICFEATURE$.	false
+a1c79d4ff358d9397e97f6c9471a4725aa7c6e16	Spectrum of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e0e4a40191fd34075872b58a59eed32688e1e59d	@DISEASE$ (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive @PHENOTYPICFEATURE$ caused by mutations in the ferritin light chain gene (FTL1).	false
+736c6ae2b178014b7752d1608a095a9d4eff4b95	Neuroferritinopathy (MIM 606159, also labeled @DISEASE$ and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive @PHENOTYPICFEATURE$ caused by mutations in the ferritin light chain gene (FTL1).	false
+5b5658d13c878901821388a17803d66bd4316043	@DISEASE$ is a recently recognised genetic disease resulting in a dominantly inherited @PHENOTYPICFEATURE$.	false
+02fb4245b6210858355c630c008430b1a6d8ba6a	@DISEASE$ is a rare, late-onset, dominantly inherited @PHENOTYPICFEATURE$ caused by mutations in L-ferritin gene.	false
+ede4d7e91879573f1d1c8ea2620b7192134c6a3f	@DISEASE$ (NF) is a @PHENOTYPICFEATURE$ caused by alterations in the L-ferritin gene that generate cytosolic free iron.	false
+16113d7ff766cc8f7b2fc64915503ca093f323e9	@DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$ caused by mutations of the FTL gene.(1)	false
+f39a61f73d4d9849d6a462466db3e07a4f35835f	Mutations in L-ferritin have been associated with @DISEASE$, a rare and severe @PHENOTYPICFEATURE$ with abnormal brain iron storage.	false
+02e840c955ae4bd5c3066369199a7a54a58a18f9	@DISEASE$ is a rare, adult-onset, dominantly inherited @PHENOTYPICFEATURE$ caused by mutations in the ferritin gene.	false
+56cf3e3ed33ab025daedfd09ba5bdba349e01538	@DISEASE$ is an autosomal dominant extrapyramidal @PHENOTYPICFEATURE$, caused by FTL gene mutations.	false
+b802f2e545284e8d7252935631bb14241569ed50	@DISEASE$ is a recently recognized, dominantly inherited @PHENOTYPICFEATURE$ caused by a mutation of the ferritin light chain gene.	false
+903c7d8d2b4a92a389a2e202639522a755887957	Patients with @DISEASE$ present with global developmental delays, mental retardation, @PHENOTYPICFEATURE$ especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder.	false
+d157968544000f8e421efd1ac956f38ea2989b1a	Unlike our study population, we expect more frequent @DISEASE$ among children with severe developmental delay, @PHENOTYPICFEATURE$, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors.	false
+2a507c3087b84398798fa63c29c14b4685278db7	@PHENOTYPICFEATURE$ and @DISEASE$ are the most common causes of pathological basal ganglia calcification.	false
+847cfbc4121713f4215b4b61a4c30e841caee6bd	Since parathyroid hormone (PTH) has been reported to release PRL in normal humans, we studied the effects of exogenous PTH infusion (150 U) on the secretion of PRL, TSH, and calcitonin in 10 normal subjects, 5 with @PHENOTYPICFEATURE$, and 10 with @DISEASE$, type I (PHP).	false
+0d47bb8f4b74f7b55eea97b015191aa4613f0cf0	@PHENOTYPICFEATURE$ and @DISEASE$ in childhood.	false
+2a507c3087b84398798fa63c29c14b4685278db7	@PHENOTYPICFEATURE$ and @DISEASE$ are the most common causes of pathological basal ganglia calcification.	false
+2a507c3087b84398798fa63c29c14b4685278db7	@PHENOTYPICFEATURE$ and @DISEASE$ are the most common causes of pathological basal ganglia calcification.	false
+d8da455c9165c21c187d2afb89e2e0f56c43ab01	@PHENOTYPICFEATURE$ and @DISEASE$ are associated with reduced plasma 1alpha,25-(OH)2D while patients with primary hyperparathyroidism have significantly elevated sterol hormone levels.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+9104ad6fc26e04b1530dca9a37194b041aa0d0aa	Although @DISEASE$ (JE) has been reported to be associated with @PHENOTYPICFEATURE$, there is no report on its frequency, pattern and severity and their correlation with electroencephalography (EEG) and radiological findings.	false
+b3fcf4342d83b692210ac40cb9aaa4063fe571e6	The mosquito-borne @DISEASE$ (JE) virus is the major etiological agent of viral encephalitis in children living in South-East Asia, causing comas, @PHENOTYPICFEATURE$ and Parkinson's disease-like movement disorders.	false
+deebedc53d1ff894787a6e5180e58951103871b3	A case report is given of a 37-year-old patient suffering from @DISEASE$ and hypertrophic non-obstructive @PHENOTYPICFEATURE$.	false
+f854629f1f142c92140ccece9db39b00c76f67ef	A 28-year-old male with a @DISEASE$ who had congenital @PHENOTYPICFEATURE$ of sinus venosus defect was described.	false
+1a57cd2f74fbdca84685a3120147b410113771e0	Very-long-chain acyl-CoA dehydrogenase (@DISEASE$) deficiency is a severe defect of mitochondrial fatty acid oxidation characterized by hypertrophic cardiomyopathy, pericardial effusion, steatosis, and @PHENOTYPICFEATURE$, often resulting in death by 4-5 months of age.	false
+8282a81d32066885aa4117bbcfeadbfa6f87cbab	We report on a mouse model of @DISEASE$ with a phenotype induced by the stresses of fasting and cold, which includes @PHENOTYPICFEATURE$, hypothermia, and severe bradycardia.	false
+c322b5732f3a591180654234b4c8c5d3dd96429e	Very long chain fatty acid dehydrogenase (@DISEASE$) deficiency is a rare but treatable cause of cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, @PHENOTYPICFEATURE$, and sudden death.	false
+8dc159d1c122421e5bd4584aceb556a43a6c61a5	@DISEASE$ is a genetic disorder that commonly presents in infancy or childhood with episodes of hypoketotic @PHENOTYPICFEATURE$, cardiomyopathy and liver dysfunction.	false
+b475e71d3a672e2b72d46dd919f1610664ea0907	Here we report a newborn with @DISEASE$ with a severe neonatal onset type who presented with @PHENOTYPICFEATURE$, cardiomyopathy, mild hepatomegaly and slight hypoalbuminemia.	false
+51ff8f9e3c71b4bb9b1594b71e70143048779cd7	Here we report a newborn with @DISEASE$ with a severe neonatal onset type who presented with hypoglycemia, cardiomyopathy, mild hepatomegaly and slight @PHENOTYPICFEATURE$.	false
+45bf746e55d3badfd0ad6c08f75944e60e41aa74	Mitochondrial very-long-chain acyl-CoA dehydrogenase (@DISEASE$) deficiency is associated with severe @PHENOTYPICFEATURE$, cardiac dysfunction, and sudden death in neonates and children.	false
+d35dd6e7d7aa701ae5be741d942cb5ba2493eb9a	Hexanucleotide repeat expansions in C9ORF72 are a common cause of familial and apparently @DISEASE$ (ALS) and frontal temporal @PHENOTYPICFEATURE$ (FTD).	false
+441a7ccfceda4bc47ddb512cc630133ce89bc1cc	Blood pressure changes in response to intravenous drug administration were examined in a respirator-dependent 49-year-old patient with @DISEASE$ (ALS) who developed severe @PHENOTYPICFEATURE$ attacks.	false
+2b7709a43fe69d51594264c355202b76e628b883	Features of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+c8e08c0d21d9efb58562e672fa93ff02e014f479	Stressful life events are associated with @PHENOTYPICFEATURE$ and decreased quality of life in @DISEASE$ (MS).	false
+84fd65736cd407fdfbeb3a58b9159dce1278e648	A 54-year-old woman with @DISEASE$, prolonged fever, and @PHENOTYPICFEATURE$.	false
+a6dea376fde334c05e32e08a2ab393525758a5af	CD24v has been associated with @DISEASE$ and systemic lupus @PHENOTYPICFEATURE$ in other populations.	false
+373bb4ca379784e59a8505ab6562aefb915c28f5	Balance disorders of central origin may be due to other immuno-mediated disorders such as @DISEASE$, brainstem @PHENOTYPICFEATURE$ and vasculitidis.	false
+f6305a4c1edfda99e064e754a9ca0d7bc0f64ed1	Primary Sj?gren's syndrome manifested as @DISEASE$ and cutaneous @PHENOTYPICFEATURE$ lesions: a case report.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+49abfc1ef86236d2b85e40532d2fb8344dd24dd3	Intracavernous injection of papaverine was tested in a group of 29 patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+68aac3cf588f8ea8c107aaaf351c02815218d308	Episodic @PHENOTYPICFEATURE$ is a common but poorly-understood phenomenon in @DISEASE$ (MS).	false
+fe5be155300b9d5f82980f97775c552f43ff7979	Here, we characterize the transcriptional activity and protein stability of ?Np63 mutants (that is, mutants of a p63 isoform that lacks the N-terminal transactivation domain) that are found in @DISEASE$ (EEC), @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting syndrome (AEC) and nonsyndromic split-hand/split-foot malformation (SHFM).	false
+48d42217350c851f50064404c3528868b0c365db	Sweating deficiency has been reported to represent a cardinal symptom of @DISEASE$ and @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate syndrome, two rare p63-associated disorders.	false
+49c7fcd66cd8c4e0c68d8ff1879d6ab773e99248	RHS has obvious phenotypic overlap with other ectodermal dysplasia-clefting syndromes (EDCS), such as @DISEASE$ (EEC) and @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting syndrome (AEC), all of which show MCT.	false
+e91da0b2657c3e5506612f7bd81be99ce792bdf3	These individuals (9 with @DISEASE$, 3 with @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate syndrome) produced sufficient sweat volumes (??20??l) in response to pilocarpine.	false
+ee37238341a2f1e00bf2408ef3ede7c263fd4efe	We describe a case of an unusual tongue @PHENOTYPICFEATURE$ associated with @DISEASE$ in a 3-month-old white female infant.	false
+b03775351d4c1a38f8c416831e9c2e6c2471e3c8	An analysis was made of three different syndromes associated with p63 gene mutations, known as @DISEASE$ (EEC), @PHENOTYPICFEATURE$-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS).	false
+0740404a674feaaa97c802633dd936a943c3bc7a	We investigated 14 individuals with @DISEASE$ (age range 2-48?years) and 9 individuals with @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate syndrome (0.5-60?years of age) by confocal laser scanning microscopy to determine their palmar sweat duct density and by quantification of pilocarpine-induced sweating.	false
+5066f600d88960f2797eb974c29c5745cc9ab319	A 34-year-old male with @DISEASE$ lost function of his deceased donor allograft after 12 years and presented with @PHENOTYPICFEATURE$, pain over his allograft and hematuria.	false
+bd0a0f5fca7512a74d74abad9d27457e421a3e00	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, @DISEASE$, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+574526f06996bbd8da330e24c0cd5c7c92c67463	In comparison with hemodialysis, renal transplantation in @DISEASE$ may have deleterious effect on hearing, when associated with plasma hyperviscosity and @PHENOTYPICFEATURE$, but may lead to regression of retinal hyperpigmentation.	false
+95d36fd41a564d00cebf4b6ddb4eec12a55ee08d	Aldosterone synthase deficiency, salt-wasting forms of congenital adrenal hyperplasia, and @DISEASE$ all cause aldosterone deficiency, signs of which include hyponatremia, @PHENOTYPICFEATURE$, hypovolemia, elevated plasma renin activity, and sometimes shock and death.	false
+14f983b7e830284dee15bdf3404a4b4f4cde4af6	We report on a patient with genetically confirmed @DISEASE$ (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, @PHENOTYPICFEATURE$ (CAH).	false
+c15c76875738b025a5187f9e249182804780d5d5	@PHENOTYPICFEATURE$ in @DISEASE$: expanding the nonmotor phenotype.	false
+1c63f8ce8d6af712a7bac94d8dfb1c8040628b16	@DISEASE$ and @PHENOTYPICFEATURE$-like symptoms.	false
+e61ec36065bcf24062af3347cac26e6eb12735f2	@PHENOTYPICFEATURE$ in @DISEASE$ and Parkinsonism.	false
+c6dfda3b872332c9bebcec7e900d1a5ec0ad33f4	Small intestinal bacterial @PHENOTYPICFEATURE$ in @DISEASE$: Tribulations?of a trial.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ea287964ee3a96d8a407568228093a6a9a76b44	@PHENOTYPICFEATURE$ and @DISEASE$: characteristics and associated factors.	false
+a02309a7252f9970843f2ef7fe4fb794ed3ac806	A 75-year-old woman with @DISEASE$ developed asthenia, delirium, aggravated parkinsonian symptoms, and hypotonic @PHENOTYPICFEATURE$ along with the diagnostic criteria for SIADH during dose escalation of pramipexole.	false
+0df578f8ed0cbd8b950313c2cb20bb7b01cc4209	Sixty to 90% of patients with idiopathic @DISEASE$ (IPD) developed early @PHENOTYPICFEATURE$ and subtle speech impairment, which is usually related to orofacial muscular dysfunctions.	false
+7b6fd190a1e82c2e5d3c5c5a9b9eb22960033472	Liquid melevodopa versus standard levodopa in patients with @DISEASE$ and small intestinal bacterial @PHENOTYPICFEATURE$.	false
+572013eeab0ef0a94faf8a5aa82404a45204e878	The authors report on a case of @PHENOTYPICFEATURE$ suppression following deep brain stimulation (DBS) for @DISEASE$.	false
+0d8b465b0339d0008110d154167f1fd870a94287	Four morphological forms were identified: plaques (18 patients), diffuse non-pitting @PHENOTYPICFEATURE$ of both lower legs (five), nodules (five), and @DISEASE$ lesions (two).	false
+1e1de5950632d35ea070c7b688df2e105485d553	[@DISEASE$ @PHENOTYPICFEATURE$ of the face].	false
+c648f59a619951c6742288ecc02d74d45e3af05f	[Surgical therapy of scrotal @PHENOTYPICFEATURE$ in @DISEASE$ congenita hereditaria (Meige type)].	false
+28d258f6a890fca85e147445745ef311c0ddfdb0	We report for the first time electroretinographic (ERG) evidence of progressive retinal abnormalities in a girl who presented in infancy with ocular features of @PHENOTYPICFEATURE$ and gradually developed choroidal sclerosis and patchy retinal atrophy leading to a diagnosis of @DISEASE$ (KS, OMIM 267750, COL18A1).	false
+98f4bf5f8fde48305d36d785d89c82bda878b9d5	The duplication belongs to the @DISEASE$ (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like autism, hypotonia, @PHENOTYPICFEATURE$, language delay and epilepsy.	false
+bf2c74d6da4ea00024699c9fe791a2dc83622393	Pneumocystis jirovecii pneumonia (17.8%), @PHENOTYPICFEATURE$ (8.9%), and @DISEASE$ (8.9%).	false
+6b7bda7a8363fb036808c537676c5db98e07e8ed	The @DISEASE$-deficient rats exhibited increased mortality and enhanced pulmonary toxicity as evidenced by increased pathologic damage and @PHENOTYPICFEATURE$ during the normobaric exposure to 85% O2.	false
+885edde6de797842e98c3fb8e4c5d693c66319c3	There are other entities that mainly affect the peribronchovascular interstitium without a predominant perilymphatic distribution, such as hydrostatic @PHENOTYPICFEATURE$, @DISEASE$, Kaposi's sarcoma, interstitial pulmonary emphysema, and interstitial hemorrhage.	false
+3d8462aa258ee1fc3572023b098a8913e1ee57a0	Systemic involvement may be present and lung involvement in Sweet's syndrome has been reported in the form of bilateral @PHENOTYPICFEATURE$, @DISEASE$ and pleural effusion.	false
+6de0a4c0f6a30929b8b6cb06c63f5ec94500d0d8	The final diagnoses were tuberculosis, aspergilloma, @DISEASE$ (BOOP), sarcoidosis, sequestration, anthracosis and @PHENOTYPICFEATURE$.	false
+11b7a3a8f7c63a8114fe1df8ae520dca41a11f36	A number of non-infectious conditions, including neoplastic lesions, @PHENOTYPICFEATURE$, pulmonary embolism, drug-induced pneumonitis, diffuse alveolar haemorrhage syndromes, @DISEASE$ and acute eosinophilic pneumonia, may present in a similar way and mimic CAP.	false
+6317d1c9e9651c1d9d10503ae0d01a0e4374d469	Although most entities show non-specific HRCT findings including ground-glass opacity and air-space consolidation, characteristic findings are observed in several pulmonary complications including Pneumocystis carinii pneumonia, fungal infections, miliary tuberculosis, leukemic infiltration, @PHENOTYPICFEATURE$, bronchiolitis obliterans, and @DISEASE$.	false
+f16d189e5dbae574bb076185def7dc1dde1f49c1	The most common patterns are: non specific interstitial pneumonia and fibrosis, pulmonary eosinophilia, hypersensitivity pneumonitis, @PHENOTYPICFEATURE$ with or without diffuse alveolar damage, @DISEASE$, pulmonary hemorrhage and vasculitis.	false
+add08b87f44e66dc1e2981cffb3033db30149ff2	The non-infection pulmonary complications most frequently found were: bronchiolitis obliterans, @DISEASE$, @PHENOTYPICFEATURE$, idiopathic pneumonia syndrome, delayed pulmonary toxicity syndrome, diffuse alveolar hemorrhage, engrafment syndrome and pulmonary cytolitic thrombi.	false
+7729f8745f77d7167c3df8e91e52aa46180cf387	The pictorial includes images of normal anatomy, emphysema, idiopathic pulmonary fibrosis, Langerhans cell histiocytosis, sarcoidosis, @DISEASE$, desquamative interstitial pneumonia, nonspecific interstitial pneumonia, lymphocytic interstitial pneumonia, @PHENOTYPICFEATURE$, tuberculosis, cytomegalovirus pneumonia, bronchiectasis, and panbronchiolitis.	false
+7e43b3ab58bc122cdad3c035cc1dd3fe0a448a5c	The typical CT findings of @DISEASE$ (dysplastic gangliocytoma of the cerebellum) are a hypodense nonenhancing unilateral posterior fossa mass, with or without adjacent occipital thinning, @PHENOTYPICFEATURE$, and calcification.	false
+6c6f95e30c45ee3f0f8f3f4fa0bd8253039f743c	A new case of @DISEASE$ was recognized as an accidental finding during the autopsy of a 58-year-old male who had died because of acute enteritis and shock-induced @PHENOTYPICFEATURE$.	false
+b8ceb26d45fbdcab34ccfd9ca0185726aab0704c	A case of @DISEASE$ (LDD) in a 54-year-old female leading to local compressive symptoms and obstructive @PHENOTYPICFEATURE$ is presented.	false
+60120280eb9851beb85510ce4bcc43cd59a3f627	Their phenotype associates classical manifestations of @DISEASE$ and congenital dysmorphisms including segmental @PHENOTYPICFEATURE$, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus reminiscent of the diagnosis of Proteus syndrome.	false
+d01284005ad92e228a58be4a3cf8edde48bb8c18	Occasionally, individuals with @DISEASE$ (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as @PHENOTYPICFEATURE$ and macrocephaly.	false
+18f10be78a47766ffa1308a5cd80368ed8cb4a39	@DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+93cbb7755968e416d79d066b876b3e9c7c85df18	@DISEASE$ (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous @PHENOTYPICFEATURE$ disorder.	false
+2d531c1e558ecd11ec47a1072b497afaffc87cbc	A wider classification of 'PIK3CA-related pathology spectrum' is presented which includes cancer, benign skin lesions/tumors, @DISEASE$, isolated vascular malformations and various @PHENOTYPICFEATURE$ syndromes.	false
+9dc66ab1eb7627da240c6aac9e7e7c29aac42b32	@DISEASE$ lesions are polymorphous: verrucous, nodular, @PHENOTYPICFEATURE$, plaque-like, and atrophic.	false
+751792af80e789c1cb70af26a0fac6be3d6937a4	@DISEASE$ is characterized by the slow development of polymorphic skin lesions (nodules, verrucas, @PHENOTYPICFEATURE$, plaques and scar tissue).	false
+29b57b57fcbb4c30522c67dcd7ad15a4c8823d91	@DISEASE$ displays tumor promoting or @PHENOTYPICFEATURE$ suppressing activities depending on the types of tumor cells.	false
+6eab2522abf80fbaec139aee25e183bc964be6ae	@DISEASE$ displays @PHENOTYPICFEATURE$ promoting or tumor suppressing activities depending on the types of tumor cells.	false
+42b56e4d8cf6aea4cfa5a7a8f28eb24bd76299ec	@DISEASE$ displays tumor promoting or tumor suppressing activities depending on the types of @PHENOTYPICFEATURE$ cells.	false
+edf9cb813863c1302a25fbd6ac368f1ad5cf010e	However, the molecular mechanism by which FOXK1 synergizes with @DISEASE$ @PHENOTYPICFEATURE$ proliferation, EMT and metastasis is not well defined.	false
+1d65509b6b2a8d78583021ea356ca75801ca9534	This finding may provide a mechanistic basis for @PHENOTYPICFEATURE$ suppression by @DISEASE$ deficiency.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+d3ceff852c28390f71c186153f83648cb21befe7	Although the most significant clinical consequences of this syndrome are associated with catastrophic failure and impaired healing of soft tissues, several studies have documented @PHENOTYPICFEATURE$ in vascular @DISEASE$ patients.	false
+dec462bc1a848aa137709bd47b841ae1d7f2d60c	The aim of the study was to assess the short-term effect of diet as well as short- and long-term effect of simvastatin on @DISEASE$ in patients with @PHENOTYPICFEATURE$ and ischemic heart disease.	false
+fdc437be43cae09a7c4fc8377e6e40dac0bba4d9	Motor abnormality, @PHENOTYPICFEATURE$/hypoactivity, inattention, speech/language, social interaction, behavioral, sleep, feeding and emotional problems are ESSENCE difficulties for which there is some evidence of an association with @DISEASE$-HT/JHS.	false
+98af6835fca3fd5106ffc301b2f3f6d8f0de9a7e	A 28-year-old woman was evaluated for 4 months of excessive daytime sleepiness (@DISEASE$), after an overnight polysomnogram (PSG) revealed neither sleep disordered breathing nor a sleep related @PHENOTYPICFEATURE$.	false
+522b0f898ecef1b2c66f9885bf4bc30d3670a817	Among the conditions associated with MSK are Beckwith-Wiedemann syndrome/hemihyperplasia (13%), horseshoe kidney, congenital small kidney, @PHENOTYPICFEATURE$, Caroli syndrome, congenital hepatic fibrosis, @DISEASE$, Marfan syndrome, immotile cilia syndrome, and arterial fibromuscular dysplasia.	false
+706ddd544eeb1e9f667f6280be65aac75cb0bfa0	We describe a patient with type IV @DISEASE$ who had multiple systemic and bilateral renal arterial aneurysms and @PHENOTYPICFEATURE$.	false
+5a97135b1b8b7723007c21b8bcf99d7a13cafa8a	ReHo analysis controlling for gray matter volume, age, gender, general cognition, depression, postural instability gait difficulty, and rapid eye movement sleep @PHENOTYPICFEATURE$ showed decreased ReHo in the left cerebellum and inferior frontal gyrus, but increased ReHo in the left paracentral lobule in PD-@DISEASE$ patients, compared with patients without EDS.	false
+f062c713c14674685cddf72362eed9f660241f03	Two unrelated girls, aged 11 and 14 years, with clinical manifestations of @DISEASE$ (EDS) type VIB, characteristic facies, @PHENOTYPICFEATURE$, and other features are described.	false
+4cc6cab535c77acae98612320219beb380b3777a	The observation related by the authors shows: 1) @DISEASE$ (not described previously), 2) @PHENOTYPICFEATURE$, 3) medullary tyroid carcinoma and 4) pheochromocytoma symptoms.	false
+6f52d7e4ef788757882990b336babadd787c2a00	In Danio rerio embryos, isocyanide caused "wavy" notochords, hydrocephalus, pericardial @PHENOTYPICFEATURE$, poor blood circulation, and defects in pigmentation and hematopoiesis, which phenocopied @DISEASE$ deficiency.	false
+df0fe7ba783dc0e0686ab23060c358440eb4eb84	The present study examined possible changes in the @DISEASE$-deficient mast cell which may account for increased macromolecular leakage and @PHENOTYPICFEATURE$ formation.	false
+7696d53143563f6a965603fc11022584ec62a01a	Loss-of-function mutations in the ATP7A gene result in Menkes disease, a fatal neurodegenerative disorder resulting in seizures, hypotonia and @PHENOTYPICFEATURE$, due to systemic @DISEASE$ deficiency.	false
+fd081d0ac14fab5f7d916555da194b39d07813b9	Signal abnormalities on magnetic resonance imaging might therefore, at least in the early stages, represent reversible myelinolisis or cytotoxic @PHENOTYPICFEATURE$ associated with @DISEASE$ toxicity.	false
+ad9143df2538e4298f52559149ec529307636204	However, recovery from foot @PHENOTYPICFEATURE$ was impaired in @DISEASE$-deficient animals, while marginally copper-deficient animals recovered at the same rate as did controls.	false
+0b57ec3011a5389dd87076ab9d3a2815a0a347cd	However, recovery from foot @PHENOTYPICFEATURE$ was impaired in copper-deficient animals, while marginally @DISEASE$-deficient animals recovered at the same rate as did controls.	false
+4da79e9d4e0981450e889fb0d8a82021b1ac91b1	The effects of nutritional @DISEASE$ deficiency on carrageenin @PHENOTYPICFEATURE$ in the rat were investigated with emphasis on studying the correlation between the degree of copper deficiency and the degree of edema.	false
+ed4e30599e6bc544df0072c5c7002a7e1a63eabf	The effects of nutritional copper deficiency on carrageenin @PHENOTYPICFEATURE$ in the rat were investigated with emphasis on studying the correlation between the degree of @DISEASE$ deficiency and the degree of edema.	false
+c8c36bb0a0c62c82baa2dfdaa820197da2ca99ac	The effects of nutritional copper deficiency on carrageenin edema in the rat were investigated with emphasis on studying the correlation between the degree of @DISEASE$ deficiency and the degree of @PHENOTYPICFEATURE$.	false
+6094b6bdd49cd15bcb68e60b13c91839804fb018	The effects of nutritional @DISEASE$ deficiency on carrageenin edema in the rat were investigated with emphasis on studying the correlation between the degree of copper deficiency and the degree of @PHENOTYPICFEATURE$.	false
+a8aa1f2ad21a69bba4d1dba9bccec33ade6a0e35	Effect of nutritional @DISEASE$ deficiency on carrageenin @PHENOTYPICFEATURE$ in the rat.	false
+6b4b57493581fde1599d55a2cc171d2409979763	The characteristic features of MNK are progressive neurological degeneration, connective tissue disorders and @PHENOTYPICFEATURE$, which are caused by a reduction in the activity of several copper-dependent enzymes, due to concomitant @DISEASE$ deficiency.	false
+1fdc3510700c2452d3a4e6389b3246b1d73f335d	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+d03d101eb3b50938f2960704d0acc5663f65accd	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+9052737009ba568e0b1e99e3a27a12bf329e301b	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+03199c3e8ffb4d93a7c5f248f8412325b5fc9d0e	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+b2b96501fd5404a42addd1b3283006a2387e096c	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+445f97ed462d904438e1a6afd912662a440acedc	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+b7aa04f954bbc2df5e6bea95db28c0e070264df8	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+5fa4caf77c8d1be247be6659b3c711c4a6980fb7	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+10775fb35ab2a2b7264618e1f1817b288736fd58	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+1c6c9f8278a63ada31e3bebcb172f2ed9657fca6	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+b7c9c71647fb92f5d5d03ae294c441e215b3ced5	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+67dc6a228d383aab7e6f91e8202d287115b16aed	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+79c3825d2e8a6825f0f4b7a444d164b6cfafddd4	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+6865a7733c29c56f5dd447228fcf09d2bd4721d9	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+32b12036a7a260cd747068d20d02d7b714580926	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+9c4b76b568ec0b388a07bef9d5c20f7f4e8728fd	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+015a1c0f550223bac849a482d108833ae55d2bb6	Common findings included periductal fibrosis and inflammation, portal @PHENOTYPICFEATURE$ and fibrosis, focal proliferation of bile ducts and ductules, focal bile duct obliteration and loss of bile ducts, @DISEASE$ deposition, and cholestasis.	false
+eb5f7b2f091422fc663e47668896acc614f01a9a	PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset @PHENOTYPICFEATURE$ and developmental delay syndrome, and @DISEASE$, respectively.	false
+e2fde01c549fa01f7b26bb6c9ae9e381c398d925	In anesthetized dogs ethchlorvynol (ECV, 9 mg/kg) was selectively administered into the right pulmonary circulation to produce unilateral @DISEASE$ (ALI) characterized by nonhydrostatic @PHENOTYPICFEATURE$ and systemic hypoxemia.	false
+040cdaaf10cdd2d182ce259d690529066c00b674	Breaching of endothelial barriers is a key event in the development of @PHENOTYPICFEATURE$ during @DISEASE$ (ALI).	false
+8cb66fd930fe207850e0a15f6d7636a36a4b896e	A de novo CASK mutation in @DISEASE$ with early @PHENOTYPICFEATURE$ epilepsy and tetralogy of Fallot.	false
+aae4b604979977f2def49c067bbb39f9ec234f34	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, @PHENOTYPICFEATURE$, congenital cardiac defects, and genital anomalies in boys.	false
+f149d4e6be71c285712bd735a3fe75d42b3aa086	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and @PHENOTYPICFEATURE$ in boys.	false
+21dea5b538d564f4d3f2021eb7f70ea28b02b6cb	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, @PHENOTYPICFEATURE$, hypotonia, and mental retardation are the main features of the syndrome.	false
+41ce2964798a5f5dc1260f77acda9f47a1b64de7	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and @PHENOTYPICFEATURE$ in males.	false
+f37bf39acf92516fdf5c8849ce0c243b053d2fb8	The concept of epigenetics considers mood disorders, Alzheimer's disease, attention deficit and @PHENOTYPICFEATURE$ disorder, @DISEASE$, multiple endocrine neoplasia type I and II, breast and prostate cancers, carsinoid tumors, cerebrovascular and cardiovascular diseases and metabolic syndrome together.	false
+2b1f77d2785fe1dee7e2d831d684a342328e3f2d	Ovine hereditary chondrodysplasia, or spider @DISEASE$ (SLS), is a genetic disorder that is characterized by severe @PHENOTYPICFEATURE$ and has resulted in substantial economic losses for sheep producers.	false
+69d17f81ae4bdad380b3b4f8d7d1eed68ad9d066	There were positive findings in 56 cases: phenylketonuria (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), @DISEASE$ A (1), hyperglycinemia with hyperglycinuria (1), renal @PHENOTYPICFEATURE$ (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type.	false
+e20f4879797dc344faa68455294abfff16a35802	Less than 33% had witnessed acute psychosis, diabetic ketoacidosis, @DISEASE$, status epilepticus, near drowning, hypertensive encephalopathy, acute haemolysis or child abuse.Acute surgical/obstetrics cases, seen by >90% students, included fracture of long bones, head injury, acute @PHENOTYPICFEATURE$, malpresentation and foetal distress.	false
+760ce7ff8cc4ea9236911e462561e432f17e566c	Sickle cell intrahepatic cholestasis, a potentially fatal complication of sickle cell disease, can present with @PHENOTYPICFEATURE$, acute hepatomegaly, coagulopathy, hyperbilirubinemia, and @DISEASE$.	false
+edb6388001f13f55a91ef61198dc3fb9d0ff567e	@DISEASE$ and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as @PHENOTYPICFEATURE$, headaches, fever, weakness or behavioural changes).	false
+2adaa092bdc65da5c665ac9142f371d6df694d01	Clinical examination and biological studies showed encephalitis, interstitial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+41aab8f032eccd04324c0a875f2179655b52fda4	@DISEASE$ is present when any type of rapid-onset liver insult results in a common systemic pathophysiologic picture: altered mental status, vasodilation, renal and pulmonary failure, @PHENOTYPICFEATURE$, and poor outcome without transplantation.	false
+788d78eaf0372d7fc6b7fdc37f49499d9d1df818	A 44-year-old female initially presented with fever, @PHENOTYPICFEATURE$ and was subsequently diagnosed with @DISEASE$.	false
+7618f804437600989e3f22cc4a493b52cb5c1369	In severe cases, hospitalization may be necessary for intravenous rehydration if the patient is unable to maintain adequate oral intake due to @PHENOTYPICFEATURE$ or if there is any alteration of mental status to suggest evolving @DISEASE$.	false
+1cea833796b4dd792592f68a0b8689b8ba3a269c	The use of iMRI during @DISEASE$ can lead to increased extent of resection for large @PHENOTYPICFEATURE$.	false
+4b5c08d0e47c61c0bd89c6d826b0f87d7ff60750	Two patients elected to undergo repeat @DISEASE$ with histology confirming a corticotroph @PHENOTYPICFEATURE$ in each case.	false
+3b012499e8324515e1963e325ecd69552a1ee8f9	Extended @DISEASE$ resulted in complete @PHENOTYPICFEATURE$ removal.	false
+d3917863f49b7d97c260796e9a2aa7989234800a	Indications of @DISEASE$ are tumors???2 cm in solitary testis or bilateral @PHENOTYPICFEATURE$ and no rete testis invasion.	false
+46d2c993b2ec32126036c165e1d6b12f0d88e7b6	Indications of @DISEASE$ are @PHENOTYPICFEATURE$???2 cm in solitary testis or bilateral tumors and no rete testis invasion.	false
+c2d348e2c45524e14f618f267bcaa31f113f7650	Recurrence appears to be more frequent and earlier after @DISEASE$ in patients with USP8 mutant corticotroph @PHENOTYPICFEATURE$.	false
+2e8d1fbc77e4a35a7b7288bda0f89244ad52bdea	Results were matched with clinicopathologic variables and @PHENOTYPICFEATURE$-specific survival (@DISEASE$).	false
+1bc02dfacabf16907dd2ef0254a05b9ba7dc90bb	OXR1 had specific @DISEASE$ in brain and @PHENOTYPICFEATURE$ tissues, and so on.	false
+5b0894a3c8577e7439f32de167912c458eee68e4	Undetectable @PHENOTYPICFEATURE$ on MRI before @DISEASE$ and high Ki-67 immunopositivity were found as risk factors for tumor recurrence.	false
+59f37d8b7b7a85f323b326ce018d2979297f977f	Undetectable tumors on MRI before @DISEASE$ and high Ki-67 immunopositivity were found as risk factors for @PHENOTYPICFEATURE$ recurrence.	false
+a2d5efdbfe7d8dfbe1b4e01f72ac2da5b976ba2c	Ulceration of the primary @PHENOTYPICFEATURE$ was significantly associated with both impaired PFS and @DISEASE$.	false
+6f32319fda3cf20824397c86961b3789eaba7cb5	She underwent an extended @DISEASE$, and the @PHENOTYPICFEATURE$ was totally resected.	false
+95d55e0ae9b7167b2d2e70672b77e32f6a132493	A 14 year old boy with proximal focal femoral deficiency (@DISEASE$) on left side, contralateral hip dysplasia in association with ulnar hypoplasia and @PHENOTYPICFEATURE$ was seen our clinic one year ago.	false
+c8d5881caa90669b180e854956e4f518534f7ecf	It is frequently combined with @PHENOTYPICFEATURE$, also with deep acetabula and occasionally with developmental hip dysplasia and children with @DISEASE$.	false
+ccc299798a9e3eec4225dea4ce927b15ee50fb77	We evaluated families with 2 or more cases of idiopathic interstitial pneumonia among first-degree family members (familial interstitial @PHENOTYPICFEATURE$, or FIP), and identified 111 families with @DISEASE$ having 309 affected and 360 unaffected individuals.	false
+e52710392f0f8bc36f41c2b8d5eddc503d20b9e6	Identifying these mechanisms has shed light on typical human neuronal migration disorders such as periventricular heterotopias (disorder of migration initiation linked to filamin), type I lissencephaly (cytoskeletal abnormality linked to Lis1, a microtubule-associated protein), @DISEASE$ (cytoskeletal abnormality linked to doublecortin, a microtubule-associated protein), or lissencephaly plus @PHENOTYPICFEATURE$ (reelin defect).	false
+7e356a0bbb51c95181f470b583fadf5db159641a	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, motor delay, autistic-like behaviors, and a distinctive craniofacial phenotype.	false
+19bee401e5364bdd02d361082ccf7b0f75ab12aa	Here, we report two unrelated girls with prenatal onset @PHENOTYPICFEATURE$, short neck, cervical vertebral anomalies, @DISEASE$, and mild intellectual disability.	false
+07b818e135c6ed6f7a6624107bd4b9263129f45c	The most common complications are secondary to acute liver failure and include severe coagulopathy, @PHENOTYPICFEATURE$, @DISEASE$, acute renal failure, and sepsis.	false
+55f6172049f02823858eff823303ebbb76a907b2	The clinical course is highly variable, with a few patients developing severe disease with bleeding, @DISEASE$, @PHENOTYPICFEATURE$ and hypovolemic shock.	false
+5328bccf86af625070f4a21e331a5d84e4a9a271	Spontaneous delivery and maximal supportive therapy contributed to successful recovery of the patient in spite of severe haemorrhage, @PHENOTYPICFEATURE$, acute ranal failure, polyserositis and @DISEASE$.	false
+db67b9230a11d390fed43bfb8d06922b9656c234	Nursing and medical management focus on controlling or preventing potentially serious complications, such as @DISEASE$, renal failure, electrolyte imbalances, disseminated intravascular coagulation, @PHENOTYPICFEATURE$, and cardiomyopathy.	false
+4bf19e9636327816436f5eec022e6484e3ca91ea	A 17 year old male developed @DISEASE$ (ARDS), @PHENOTYPICFEATURE$, intravascular hemolysis and peripheral neuropathy following self-poisoning with a pesticide containing 14.5% indoxacarb.	false
+21ccc19e6e2ec08866af60c4700f77aea15acaf4	@DISEASE$ (ARDS) after tricyclic antidepressant (TCA) overdose has been reported, but has not received as much attention in the literature as hemodynamic instability, cardiac arrhythmias or @PHENOTYPICFEATURE$.	false
+f2a709badd46d29a1ebd533874d72ed80f4e6b3e	Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and @DISEASE$) or endocrine system (multiple endocrine neoplasia type 2b and @PHENOTYPICFEATURE$-jaw tumour syndrome).	false
+653f3403ef1be7e82ab4fc9d251a94dcb0be8780	Today mothers are not endangered vitally (exception: @DISEASE$), but @PHENOTYPICFEATURE$, thromboembolic complications and rhythm disturbances may occur.	false
+09cd7bc3e271c0e4ee0bac1ab31a6d46acbe6410	The exceptional and far-flung manifestations of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ee6251bcc407277f7a7481864e56908ef0056a2d	@DISEASE$ in adults: ventricular septal defect, @PHENOTYPICFEATURE$, univentricular heart.	false
+283d7682c0c2fa67b80f8ba3c08ec57be0605d20	@DISEASE$ (p<0.001) and more severe @PHENOTYPICFEATURE$ symptoms (NYHA III/IV vs. NYHA I, p<0.001;	false
+fa537400a50bd7b3504dab83521b09e80d88bdda	Signs and symptoms of @PHENOTYPICFEATURE$ predict mortality in patients with @DISEASE$.	false
+e6cfd9495b3c7f4a8aba62543abe9ed11ef32d72	Progressive @PHENOTYPICFEATURE$ and sudden cardiac death are the common causes of death in @DISEASE$.	false
+248ead75ec73426bc68a6c1c4e548a9615cda537	The complications noted were elevated pulmonary vascular resistance, @DISEASE$, bacterial endocarditis and @PHENOTYPICFEATURE$.	false
+625106fe0f4424998234c3672427f4cf631087b8	: In this image focus, we describe the case an old woman with persistent unrepaired @PHENOTYPICFEATURE$ type III and @DISEASE$.	false
+8ee16d898dcb811cc907bb03d18aebec8016d650	SIR 2005 Annual Meeting Film Panel Case: hemoptysis and bronchial artery embolization in an adult with uncorrected @PHENOTYPICFEATURE$ and @DISEASE$.	false
+821d18540de91dcb393fb92d09940a50cd89605c	The main complications of @DISEASE$ are @PHENOTYPICFEATURE$ and arrhythmias.	false
+12bd9d572ee1b4139a2d6338b35435ef80265b8c	@DISEASE$ (TRPS) is an autosomal dominant @PHENOTYPICFEATURE$ caused by defects involving the TRPS1 gene.	false
+d3b6a0ae1d64795fe6d2144b0b9c6d3957d3f767	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$ caused by defects involving the TRPS1 gene.	false
+135bd26855d5fbf99dab94e94b9f8ceab4b684c7	@DISEASE$ type 1 is a rare @PHENOTYPICFEATURE$ of autosomal-dominant inheritance due to defects in the TRPS-1 gene.	false
+04b753a8bda9a1ca0086d8af5d86399920631a2a	Tricho-rhino-phalangeal syndrome (@DISEASE$) is an autosomal dominant craniofacial and @PHENOTYPICFEATURE$ that is caused by mutations involving the TRPS1 gene.	false
+c90467ffff37efd9207354bf11bacff117782bf1	The trichorhinophalangeal syndrome (@DISEASE$) is a hereditary, @PHENOTYPICFEATURE$ which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype.	false
+49f4a67a8ac9886829ef5f97735635bc6d374b38	The @DISEASE$ (TRPS) is a hereditary, @PHENOTYPICFEATURE$ which has a characteristic clinical presentation and is classified in types 1, 2 and 3, based on phenotype and genotype.	false
+bcc9ef5582a64733d0c020bf588b0851fa59e5dc	Collectively, these data suggest that @PHENOTYPICFEATURE$ in @DISEASE$ is caused by dysregulation of chondrocyte and perichondrium development partially due to loss of Trps1 repression of Runx2.	false
+702b189506cb8546294e9f12d29f4ca095f090d1	This is the first case of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+69a81edcea61ad04fb3ff811e720f316a63aae3f	@DISEASE$ (TRPS), a type of @PHENOTYPICFEATURE$, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	false
+79ae7b9b68c857c48a89bea14bfab302e88a35ce	Trichorhinophalangeal syndrome (@DISEASE$), a type of @PHENOTYPICFEATURE$, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up.	false
+d905c659f4583e94b083b07788ff7d60207fb29d	A wide range of TRPS-1 QS was found among the sample set with higher @DISEASE$-1 QS significantly associated with @PHENOTYPICFEATURE$ ER? (p?=?0.023 for QS and p?=?0.028 for Allred score), progesterone receptor (p?=?0.009), and GATA-3 (p?<?0.0001).	false
+2fa974d79dd1d572fc43c9a0a7824a5f70c447fa	We further subdivided the autism group into those with IHI behaviours (autism @DISEASE$) and those without (autism non-IHI) and explored similarities and differences between @PHENOTYPICFEATURE$ subgroups.	false
+4aecd405dc283b2cba023acfe2ba9cad0c4f248e	Comparison of autism @DISEASE$ and @PHENOTYPICFEATURE$ non-IHI groups showed that those with IHI behaviours were significantly more likely to have past (but not current) exposure to stimulant medication.	false
+f7654fd60424b76f4f19a8035f9e313e4b5e2fd3	All cases of @DISEASE$ were diagnosed according to the following criteria: 1) history of exposure to FLD antigen, 2) clinical symptoms (cough, @PHENOTYPICFEATURE$, breathlessness), 3) radiologic feature (diffuse small nodular pattern) and functional pattern of interstitial lung disease and 4) evidence of antibodies against Micropolyspora faeni.	false
+232a2adbff7239ecef975a4c455dbf00f1a6feff	All cases of FLD were diagnosed according to the following criteria: 1) history of exposure to @DISEASE$ antigen, 2) clinical symptoms (cough, @PHENOTYPICFEATURE$, breathlessness), 3) radiologic feature (diffuse small nodular pattern) and functional pattern of interstitial lung disease and 4) evidence of antibodies against Micropolyspora faeni.	false
+8c1cc0e454a34fba2b2b6743414aad6c8336912b	Clinically, Heshouwu was used for treating fatty liver disease (@DISEASE$), @PHENOTYPICFEATURE$, cirrhosis and hepatitis B. In contrast, both drug forms could lead to drug-induced liver injury and even death in?vitro, in?vivo and in clinical settings.	false
+ead7d399f47e3771bcd2934be37fdfda548b7174	[@PHENOTYPICFEATURE$ in a patient treated with minocycline for @DISEASE$].	false
+81975f8072ece781db220fbd02e5d62b2a887bca	Minocycline is recognized as an effective, well-tolerated therapy in @DISEASE$ (RA), although its use has been associated with the development of @PHENOTYPICFEATURE$.	false
+00aa3c5ab1c3913129f3861f4821fd3fb3b16bdb	Significance of bone marrow @PHENOTYPICFEATURE$ in pathogenesis of @DISEASE$.	false
+9e5f914c69065fdbee4c9424a4d0a69b63a38a7a	Bone marrow @PHENOTYPICFEATURE$ and osteitis in @DISEASE$: the imaging perspective.	false
+01dad93550be854e17a72bcfb3226f355759594f	We conclude that steroid therapy significantly influences the mechanism of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+dd5987c1c253d469c2c93fcf9f5c3e94747971dd	Is remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ (RS3PE) a subset of @DISEASE$?	false
+e2360289e73b3980363f3e3713b216f001c910d3	[Study of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+864141446a3bfa1b655ca2311b5400e28cab5443	@PHENOTYPICFEATURE$ is common in patients with @DISEASE$ (RA).	false
+29367533f046132af4144d9ece5c35a69a27e49f	MRI-detected bone marrow @PHENOTYPICFEATURE$ in early @DISEASE$.	false
+d3583099d8cb314e098a97f6b900a72ee12ec900	@PHENOTYPICFEATURE$ hyperglobulinaemia in association with @DISEASE$ and ulcerative colitis.	false
+39991ffd8506b7d88ba55d634ead81a54755fdce	@DISEASE$ (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or @PHENOTYPICFEATURE$.	false
+6bc156bc779f97b4b61c7ea32b8cca90ac43d2d2	Autosomal dominant cortical tremor, myoclonus, and epilepsy (@DISEASE$) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare @PHENOTYPICFEATURE$.	false
+4951efbbc61b5563a95c6748d422cdba71d55c2b	HL deficiency is an autosomal recessive inborn @DISEASE$ in man leading to episodes of @PHENOTYPICFEATURE$ and coma.	false
+6287c33a824fa9ef752a9357512069ca176c2d0f	Compared with @DISEASE$ patients without fever at disease onset, patients with @PHENOTYPICFEATURE$ had significantly more painful joints (3.5 vs. 2.8), more swollen joints (1.1 vs. 0.8), and more enthesitis (1.0 vs. 0.4) (p<0.05 for all comparisons).	false
+443f23ad1cc6ac26858c4b9437dd0775dabb29c5	According to three major clinical presentations observed in 218 neonates with inborn @DISEASE$ of intermediary metabolism (neurological distress 'intoxication' type, neurological distress 'energy-deficiency' type and @PHENOTYPICFEATURE$ with liver dysfunction) and according to the proper use of few laboratory investigations, we propose a method of diagnosis which groups these children into five categories.	false
+02ff21ff62c2ffc3b5cc9d1d41c67dcfd53d555a	Both these @DISEASE$ positive cancer cells were killed by ?3 fold higher efficiency than that of ER negative MDA-MB-231 (advanced @PHENOTYPICFEATURE$ cell) and HeLa cells that are deprived of estrogen receptors.	false
+98ffea1f99fae128abc88c68b1df2f35a2b61573	Whole-exome sequencing was used to identify a de novo @PHENOTYPICFEATURE$ (c.629G>A; p.Arg210His) in KCNQ2 in a 7-year-old patient whose neonatal seizures showed a response to pyridoxine and who had a high plasma to CSF pyridoxal 5'-phosphate ratio, usually indicative of an inborn @DISEASE$ of vitamin B6 metabolism.	false
+9b872e6eea5f469d11f26a13c4743f8f9c50dc65	@DISEASE$ @PHENOTYPICFEATURE$ was associated with failures to engage sufficient autonomic reactivity.	false
+5c3c1c58272ced24d986d9a5ebf051cef64e0496	Hyperammonemia and @PHENOTYPICFEATURE$, cardinal features of many inborn @DISEASE$ of acyl-CoA metabolism, occurred spontaneously in some HLLKO mice and were inducible by administering KIC.	false
+ae0bf8a669c32559939c9d4c6f494e89312734ba	Mevalonic aciduria is a rare, inborn @DISEASE$ of isoprene biosynthesis characterized by severe, periodic attacks of @PHENOTYPICFEATURE$ and inflammation, developmental delay, ataxia, and dysmorphic features.	false
+cb835da3c74f3b27a34ba79de050391e578aacfb	@DISEASE$ @PHENOTYPICFEATURE$ and motivational significance: Shifts in networks centering on anterior insula co-vary with error awareness and pupil dilation.	false
+927cc3daee2f8f2155b814ce6c19000d593e55d9	Clinical features were collected including discolored nasal discharge, facial pain, @PHENOTYPICFEATURE$, double sickening, symptoms persisting longer than 10 days, and elevated serum C reactive protein (CRP) and erythrocyte sedimentation rate (@DISEASE$).	false
+720c894fdcdb8bb4a2f540fedd28b76c0b9fe91e	The common symptom of pediatric @DISEASE$ was productive cough and significant @PHENOTYPICFEATURE$.	false
+29e70a46fc81c8900a8301c29201542e1ff17bdd	@PHENOTYPICFEATURE$ in PKD involve hypertension, mitral valve prolapse, intracranial aneurysms and pulmonary abnormalities include @DISEASE$ and bronchiectasis.	false
+56c87c1c8a6bed8625f20f972ee0d4776800e69e	Sixty percent of the @DISEASE$ patients had mild @PHENOTYPICFEATURE$ syndrome in home sleep testing.	false
+27a1a0b08579533bd538a8a515f831ed9a9de365	The key clinical features of unexplained neonatal respiratory distress, early onset @PHENOTYPICFEATURE$, situs inversus and a productive cough are highlighted, which, especially when occurring in combination, makes early referral for specific testing for @DISEASE$ mandatory.	false
+6ee01ab037e7df64cfafa3a81ab715f2163085bf	Comparison of patients with @DISEASE$ and OHD revealed a significantly lower incidence of the following clinical variables in the PCD patients (p less than 0.001): exertional angina, dyspnea, @PHENOTYPICFEATURE$, cardiomegaly, functional class I (all by study design), left bundle branch block and premature ventricular contractions.	false
+cb815a5b9609f5a20d4ccc310be1f4b92b48e5d9	Comparison of patients with PCD and OHD revealed a significantly lower incidence of the following clinical variables in the @DISEASE$ patients (p less than 0.001): exertional angina, dyspnea, @PHENOTYPICFEATURE$, cardiomegaly, functional class I (all by study design), left bundle branch block and premature ventricular contractions.	false
+6661cb57b506f431c7e8fd452b4032d247bf95ec	These data support the development of a prospective study to examine the utility of adding an automated @DISEASE$ algorithm to IHM-based management strategies to prevent decompensated @PHENOTYPICFEATURE$.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+5e19fa1991f56e344b449944e643a81774549796	Thus, apoptosis/@DISEASE$ may be a critical mechanism involved in the progressive loss of cardiac myocytes, which ultimately results in end-stage @PHENOTYPICFEATURE$.	false
+34fe57d0556a2e4bd32312aafb9105cf5e68bbdb	Patients with @DISEASE$ are risk for sudden @PHENOTYPICFEATURE$ upon fasting or illness if they are not treated with daily l-carnitine.	false
+b0fc658c6fc4858260a82e3bc13a3b6d53475a11	The performance?characteristics of the @DISEASE$ algorithm were defined in all patients who developed a @PHENOTYPICFEATURE$-related event (HFRE); patients without HFRE served as controls.	false
+6776eab5e61ca2412a1c44b1bb6d4b7585c86e0e	The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular vitelliform dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrophy, @PHENOTYPICFEATURE$, posterior staphyloma) syndrome, and @DISEASE$.	false
+f02e14d282e78a81d3adb13664ef866db63f488a	We describe a distinct retinal disorder, @DISEASE$ (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central @PHENOTYPICFEATURE$, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram.	false
+f382c649a85632b3cd8c44b5d77c82d338f0f856	We have determined the linear dynamic range in signal detection by Fluorescent Differential Display (@DISEASE$) using conditionally induced mRNA expression of the p53 @PHENOTYPICFEATURE$-suppressor gene as a control.	false
+30cb931dc6b672fb18d8ec6f2462ff100880dc54	Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's disease, drug-resistant tumors, @DISEASE$, Byler's disease, progressive familiar intrahepatic cholestasis, X-linked sideroblastic anemia and ataxia, persistent hyperinsulimenic @PHENOTYPICFEATURE$ of infancy, and others.	false
+7265aa80f35b8bebc98189f396874f138c602e73	SEN1 is an ortholog of human SETX (senataxin), which has been implicated in the neurological disorders ataxia-ocular @PHENOTYPICFEATURE$ type 2 and @DISEASE$.	false
+689ccbb3f6e957d45b8741a4f9e9ffb3c0bcdd5a	Both subtypes are associated with variable degrees of night blindness or photophobia, @PHENOTYPICFEATURE$, high @DISEASE$, and nystagmus.	false
+9900c8d0cb01fb4dd831035066a42f5588e09eea	Posterior staphyloma is typically associated with @DISEASE$ degeneration and has not been recognized as a cause of @PHENOTYPICFEATURE$ in albinism.	false
+c816d5ca315cdcee8122df0f6e9c607ed04aeb14	Increases in the prevalence of @PHENOTYPICFEATURE$ and @DISEASE$ in Chinese children in Guangzhou over the past 20 years.	false
+dd860fd1faa30e7ca210803682ef93c5d12e2021	@PHENOTYPICFEATURE$ @DISEASE$ and sexual abdication among women: examining the moderating effect of child sexual abuse.	false
+56171bd03b8c09a31b7da874fa4cc767bc211a73	Other complaints included recurrent @PHENOTYPICFEATURE$, urge incontinence and @DISEASE$.	false
+2b74178be963af6297322d20a3b3d9d707490156	Idiopathic ERMs were associated with @DISEASE$, @PHENOTYPICFEATURE$, and inversely associated with smoking.	false
+662d45bd5588fba6425e218bc8eff0d39787a1ef	Additional ocular signs can be @DISEASE$, hyperopia, strabismus, nystagmus and @PHENOTYPICFEATURE$.	false
+bc1f48a0dc6e1c2d4e6c612dee98b667d1fd7bb6	The major clinical features were @PHENOTYPICFEATURE$, nystagmus, and @DISEASE$.	false
+88a8f1dc025dc2b5593a97846a310ae55e8b952e	Clinical variability in night blindness, @PHENOTYPICFEATURE$, @DISEASE$, nystagmus and strabismus was examined.	false
+3e96bc2f58b357472da0fdfd604e93e60490edde	Because myopia is incriminated as the main cause of @PHENOTYPICFEATURE$, these results suggest that @DISEASE$ progression would be influenced by the circumstances of exposure to light.	false
+9d91bcfb227b54c87290fec7c69dc24a450fae68	Because @DISEASE$ is incriminated as the main cause of @PHENOTYPICFEATURE$, these results suggest that myopia progression would be influenced by the circumstances of exposure to light.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+f1d3a6d5f5dc7030e4a3ca123ddd9bf9ce10561c	Mutations in DAX1 cause @DISEASE$ with associated @PHENOTYPICFEATURE$.	false
+fe36b8e07ffb3b955420ae5765a68eadbb1f3f4d	In humans the DAX1 mutations cause @DISEASE$ (AHC) and @PHENOTYPICFEATURE$ (HHG) in boys.	false
+bfa6641f3e88599ecf739b7c887e54e8d1b0b8a3	In humans the DAX1 mutations cause congenital adrenal hypoplasia (@DISEASE$) and @PHENOTYPICFEATURE$ (HHG) in boys.	false
+057047f60fa991fd45491831d0d7f08a15c139ae	@DISEASE$ (AHC) is a hereditary disorder that leads to adrenal insufficiency and @PHENOTYPICFEATURE$ (HHG) in childhood.	false
+5f91b25b7eb7ef555eb376ea0399a97db078ad03	Adrenal hypoplasia congenita (@DISEASE$) is a hereditary disorder that leads to adrenal insufficiency and @PHENOTYPICFEATURE$ (HHG) in childhood.	false
+f03a4b077c65e24072c8e6a65b1fe8dac63b1d93	Gene deletion causing @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b46039c9cdcd1330d8bc2494b02c1510ce5427ef	The main clinical features of X-linked @DISEASE$ are adrenocortical hypofunction and @PHENOTYPICFEATURE$.	false
+28f358128170ce6780a4be4742a23533d39595f9	Mutations in NR0B1 lead to @DISEASE$ (AHC), @PHENOTYPICFEATURE$ (HH) and azoospermia in men.	false
+f33ad0264dd83c1cb77a52925ee1a7e45b349df8	Mutations in NR0B1 lead to adrenal hypoplasia congenita (@DISEASE$), @PHENOTYPICFEATURE$ (HH) and azoospermia in men.	false
+a0d3f3ed803c435f3126a9f7a84176631404ab55	@PHENOTYPICFEATURE$ is frequently associated with @DISEASE$.	false
+408288d9e5eef8dc0cf4483c6f45ca01c06fc00d	Mutations of this gene determine @DISEASE$ (AHC) and @PHENOTYPICFEATURE$.	false
+ab4668b307a6dbc9bfa7f678c49a6245301c5e32	Mutations of this gene determine adrenal hypoplasia congenita (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+1e07dce6230b59f9d222c7890cf1062bfd0a6171	Adrenal hypoplasia congenita (@DISEASE$) is a rare inherited condition characterised by primary adrenal failure and @PHENOTYPICFEATURE$.	false
+abf1fe2b2c26e6537867f2f6be53ae0b39c37978	@DISEASE$ (AHC) is a rare inherited condition characterised by primary adrenal failure and @PHENOTYPICFEATURE$.	false
+a8e5a10c8436a8a4324745731c50eeb022b3731d	Hypersomnia can result from several primary sleep disorders, including narcolepsy, @PHENOTYPICFEATURE$, restless legs syndrome, @DISEASE$, and periodic limb movement disorder.	false
+f00606bcdaa3842acd8c00fe9d86ed5adafd8554	In this article, the causes of hypersomnia are detailed following the conventional classification of hypersomnic syndromes: narcolepsy, @DISEASE$, recurrent hypersomnia, insufficient sleep syndrome, medication- and toxin-dependent sleepiness, hypersomnia associated with psychiatric disorders, hypersomnia associated with neurological disorders, posttraumatic hypersomnia, infection (with a special emphasis on the differences between bacterial and viral diseases compared with parasitic diseases, such as sleeping sickness) and hypersomnia, hypersomnia associated with metabolic or endocrine diseases, breathing-related sleep disorders and @PHENOTYPICFEATURE$ syndromes, and periodic limb movements in sleep.	false
+26cda8e70a8838cd7e2e5ed1b74bc0b87ab6fb39	Common causes of excessive daytime sleepiness include circadian rhythm disorder/shiftwork, @PHENOTYPICFEATURE$ syndrome, psychiatric disorders, restless leg syndrome, medication effect, narcolepsy and @DISEASE$.	false
+a704d0fb17d04afe0ff9ac3d2fbe9b4bc576ff14	Results for the sleep disorders that have been studied (narcolepsy @DISEASE$, @PHENOTYPICFEATURE$/hypopnea syndrome, restless legs syndrome, periodic limb movement disorder, and circadian sleep disorders) show strong evidence for an association with mood disorders.	false
+200b5753f86815b2ab8ca9b691454074d55afaa0	To better define the clinical spectra of narcolepsy and idiopathic hypersomnia, we retrospectively compared clinical and polygraphic findings and questionnaire results in groups of subjects with narcolepsy with or without cataplexy, @DISEASE$, insufficient sleep syndrome, mild @PHENOTYPICFEATURE$, and excessive daytime sleepiness not otherwise specified.	false
+5919cef4e8ab2ca6ec76c74bb26c50655333de42	To better define the clinical spectra of narcolepsy and @DISEASE$, we retrospectively compared clinical and polygraphic findings and questionnaire results in groups of subjects with narcolepsy with or without cataplexy, idiopathic hypersomnia, insufficient sleep syndrome, mild @PHENOTYPICFEATURE$, and excessive daytime sleepiness not otherwise specified.	false
+b4f90169acc3f6e1498c3a374d477a484e6c7abc	First, the main birth defects were congenital heart disease, total harelip(cleft lip; cleft lip with palate), polydactyly, @PHENOTYPICFEATURE$, @DISEASE$ and limb reduction defect in turn.	false
+15d4f9064ba9229d30556949724ce44fb765b49e	Selected birth defects--anencephaly, spina bifida, encephalocele, @PHENOTYPICFEATURE$, @DISEASE$, Down syndrome, were investigated.	false
+40f1066b0d63f65a7e5780d910ce0804372f49fc	@DISEASE$ and/or open @PHENOTYPICFEATURE$ was present in at least one individual of 98 families out of the 2,000 Palestinian Arabic families who have visited the Genetic clinic at the Hadassah Medical Center.	false
+9eccf34185bf469a8d781bce3140f13bb477605b	We report the first described association of natal teeth with @DISEASE$ and congenital glaucoma, @PHENOTYPICFEATURE$ with non-attachment of the retina.	false
+f688640ad4b2f3af87bb62102ddf9d34a13e96fc	During the observational period, the prevalence of @PHENOTYPICFEATURE$, anencephaly, spina bifida, encephalocele, and @DISEASE$ was 19.1, 4.9, 6.2, 1.2, and 9.3 per 10,000 live births, respectively.	false
+b1b70fbd401b3ffedf451d309601fbd7af964e1f	They had 453 siblings of whom 5 (11.1 per 1,000) had @DISEASE$ and 9 (19.9 per 1,000) had @PHENOTYPICFEATURE$.	false
+e933a10c885fefca0f757d5a067214c1b1b09ad4	To elucidate the role and clinical spectrum of congenital lymphocytic choriomeningitis virus infection as a cause of chorioretinopathy, @DISEASE$, and macrocephaly or @PHENOTYPICFEATURE$ in the United States.	false
+e426898fe499667e1361cf592b01ad05726f305d	In @DISEASE$, this space appeared notably enlarged and occupied by an electron transparent, nonproteinaceous interstitial @PHENOTYPICFEATURE$ fluid, due to abnormal accumulation of cerebrospinal fluid.	false
+2d72f4cea319cfc824d9364f3eff7eb28d5e3d48	The most frequent cerebral anomalies were primary @PHENOTYPICFEATURE$ (26.5%) and @DISEASE$ (17.3%).	false
+86ae4fabfd0d395db0b687d775bf1251981e443a	Myelomeningocele, @DISEASE$, anencephaly and true @PHENOTYPICFEATURE$ were more frequent in girls, while multiple anomalies and corpus callosum malformations were more frequent in boys.	false
+3601772da19515e4f7e3c6ac5f05230c92062255	Abnormalities of endogenous somatostatin have been implicated in several gastrointestinal disorders, including the @DISEASE$ syndrome, antroduodenal D-cell hyperplasia, peptic ulcer, @PHENOTYPICFEATURE$, and liver cirrhosis.	false
+834e2ab220bc972e8550566b47b3c46b61b6018d	Subjects with @DISEASE$ (DS) are known to be affected by various @PHENOTYPICFEATURE$.	false
+83d095c9a8b56396d39277577a52e631ff306980	@PHENOTYPICFEATURE$ are common in individuals with @DISEASE$ (DS).	false
+5e0b15e112aaa04bb0f18cdf8b19347657a06307	Breastfeeding and early infection in the aetiology of childhood @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9ce6fa2266a1b1503e601ef9e662017ae8e80b2d	Among the malignancies associated with @DISEASE$, @PHENOTYPICFEATURE$ is the most common.	false
+58a880743e48d55ee9baba339a7598807a205045	@PHENOTYPICFEATURE$ in newborn infants with @DISEASE$.	false
+e05bb63d93999d635909cef2814ef35ffb57347f	Inner @PHENOTYPICFEATURE$ seen on CT images in people with @DISEASE$.	false
+ad2d902f57b1e3d2b82d30551cb86614ecdb9eef	A podoscopic and descriptive study of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+0c85615d4f64bbead138e97c6414657fe2684af7	Trying to see, failing to focus: near @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+e4828b13df6f46e95b6974be9a14e8864df51835	It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against @PHENOTYPICFEATURE$ susceptibility, was found in a patient with @DISEASE$ with co-existing epilepsy.	false
+f56c644ed7c80339f509a3bda9dca1c446bbf179	Classic nephropathic cystinosis (@DISEASE$) is an autosomal recessive and infrequent inborn metabolic disease that should be suspected in all children who show @PHENOTYPICFEATURE$ and renal Fanconi syndrome (RFS).	false
+468d290587a93f75fdf6ec807e7e2cdfda595887	To establish a methodology for magnetic resonance imaging (MRI) assessment in the diagnosis of @PHENOTYPICFEATURE$ using signal intensity on BLADE diffusion-weighted MRI (BLADE-DWI) and apparent diffusion coefficient (@DISEASE$) mapping.	false
+aa2cc50e2b33507315d2840c0ae3d333edee2544	MR DWI with @DISEASE$ combined with MDCT has high sensitivity, specificity, accuracy in detecting recurrent @PHENOTYPICFEATURE$.	false
+8d5905fddca5658a612cf161fc2cafadd39270cc	There was good accuracy (area under the ROC curve, 0.97) and interobserver agreement for detecting postoperative @PHENOTYPICFEATURE$ with @DISEASE$ threshold less than 1300 ? 10(-6) mm(2)/sec.	false
+b565d6e7d604f3e7176857fe14f126534d999456	The MJD/SCA3 mutation was identified in nine families with @DISEASE$ type I, and a further family in which affected members had parkinsonism, @PHENOTYPICFEATURE$, dystonia, and spasticity, but little evidence of cerebellar disease.	false
+06b330b8deeda3d51024c752474f32d108c0e468	Three patients manifested typical AIDS dementia complex (@DISEASE$) (initially without retinitis and with slowly progressive cognitive, motor and behavioral abnormalities which were zidovudine-responsive, and relatively preserved CD4+ T cells), and seven patients presented with AIDS dementia complex complicated by CMV encephalopathy (ACE) (with CMV retinitis, @PHENOTYPICFEATURE$, altered sensorium, and rapidly declining clinical and immunological status).	false
+b224f6a30d219192f7ee2f6b8870b73af5a99559	To evaluate the accuracy and sensitivity of diffusion-weighted magnetic resonance imaging with @DISEASE$ value combined with MDCT in evaluating recurrent @PHENOTYPICFEATURE$.	false
+1f8242022a0ed80f6bc4608b4ebaf77a51fc7de7	@DISEASE$, @PHENOTYPICFEATURE$, single palmar crease and arched palate in a patient with neurofibromatosis type I.	false
+6a1772b49b5e71296ced77f2bc868532846ca3ce	Nestin expression in @DISEASE$ delineates @PHENOTYPICFEATURE$ infiltration.	false
+42c07d9edae03d5566a81a2fbb5c88ed0f036e93	@DISEASE$ are the most common intracranial @PHENOTYPICFEATURE$.	false
+ee863ac06f82f10ec9d09003a522d1666abed048	MPG mRNA expression in RT-PCR was slightly higher in astrocytic tumor tissues than in brain tissues adjacent to @PHENOTYPICFEATURE$ and in @DISEASE$ tissues, regardless of the tumor grades.	false
+5fe27150059397317de3e6141883ff2da81c1574	MPG mRNA expression in RT-PCR was slightly higher in @DISEASE$ tissues than in brain tissues adjacent to tumor and in astrocytic tumor tissues, regardless of the @PHENOTYPICFEATURE$ grades.	false
+3bce8daac1656a225ec0272d15ab0ae1e570a3fa	MPG mRNA expression in RT-PCR was slightly higher in astrocytic tumor tissues than in brain tissues adjacent to tumor and in @DISEASE$ tissues, regardless of the @PHENOTYPICFEATURE$ grades.	false
+b7cf5532296d1215b9668faa12e4af7244f85720	MPG mRNA expression in RT-PCR was slightly higher in @DISEASE$ tissues than in brain tissues adjacent to @PHENOTYPICFEATURE$ and in astrocytic tumor tissues, regardless of the tumor grades.	false
+78feb79e1d29043a2dda44a743053eeb66b1271f	More often, the @PHENOTYPICFEATURE$ pattern is seen to emerge in infiltrative @DISEASE$.	false
+51a52ba3ffeca44d99be5535601cbfcc958e7b04	HNK-1 glycan functions as a @PHENOTYPICFEATURE$ suppressor for @DISEASE$.	false
+139d47defae982dea9b20d135ca87cb175b8ab11	In astrocytic tumors, expression of VEGF may be correlated to @PHENOTYPICFEATURE$ neovascularization, and can be considered as an indicator of malignancy potential in @DISEASE$.	false
+fa4e3f7e828ff7b31607fcb8ec5f3c658728cb78	In @DISEASE$, expression of VEGF may be correlated to @PHENOTYPICFEATURE$ neovascularization, and can be considered as an indicator of malignancy potential in astrocytic tumors.	false
+3ccfb195c4b1d62a35fa1de90121ea43138843fa	@DISEASE$ were the most frequently noted intra-axial @PHENOTYPICFEATURE$.	false
+87e6d311f5965556fc898abb790c1437011307aa	These included 11 of 12 nonastrocytic @PHENOTYPICFEATURE$ and 8 of 13 @DISEASE$.	false
+24e2396d7b3688b30c486b5a3414a9bba346b0a4	Traditional prognostic indicators for @DISEASE$ include @PHENOTYPICFEATURE$ size, type, and histologic grade.	false
+5a44b49e8f348d75345807a210e5e4be15fd54a9	PR positive @DISEASE$ had higher Ki-67 LI than PR negative @PHENOTYPICFEATURE$.	false
+df81bd34b40aa72bdc16df872a1282178f5bf0e8	Dilated cardiomyopathy made up 58.6 percent of cases, @DISEASE$.5 percent, restrictive cardiomyopathy 2.5 percent, and @PHENOTYPICFEATURE$ 9.2 percent of cases.	false
+8123611fbcfb657670a4a2a53c64044a6fff2238	The literature pertaining to @PHENOTYPICFEATURE$ @DISEASE$ is reviewed.	false
+d066861e568283f118ba71e75c068fe9353974e3	A case of @PHENOTYPICFEATURE$ @DISEASE$.	false
+a32b59f7957544b49dc4c1ac992467517eb1df34	Annular @PHENOTYPICFEATURE$ @DISEASE$: a novel ringed variant.	false
+2dee4c4c54ebd7c9fdf667f598d8acf7d89198fa	Phototherapy for @PHENOTYPICFEATURE$ @DISEASE$ in Asians.	false
+7425d21ac6491e8f69d319ca988b5f9472853fda	Childhood @PHENOTYPICFEATURE$ @DISEASE$: a commonly delayed diagnosis.	false
+030d2a30cefb0e2ffaa1eeef257609658c935824	The immunopathology of @PHENOTYPICFEATURE$ @DISEASE$.	false
+4f1b94c08f8cfe951224cf65ab5624c111b81bc0	Frequency of @PHENOTYPICFEATURE$ @DISEASE$ in Egyptian patients presenting with hypopigmented lesions of the trunk.	false
+ce4c21f9fcb1cea2afa2026539e333ed1687c95f	Frequency of hypopigmented @DISEASE$ in Egyptian patients presenting with @PHENOTYPICFEATURE$ lesions of the trunk.	false
+c1c73ab2979ed71de6ae129645016a540c510c98	Inflammatory vitiligo-like macules that simulate @PHENOTYPICFEATURE$ @DISEASE$.	false
+6d34360931dbdc18d04aad7be7ad8cb635c9a2b0	Minimal residual disease in @PHENOTYPICFEATURE$ @DISEASE$.	false
+81101ff04b67d3b7ac4c2c331a93cb34612dab38	Clinicopathologic profile of @PHENOTYPICFEATURE$ @DISEASE$ in India.	false
+5695da4c887b6f4c41bb4681014546d395144f76	We report the first Palestinian child manifesting with @DISEASE$ psychomotor delay, @PHENOTYPICFEATURE$, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome.	false
+8e76a79c56927c5107211d4c3397ecce66ff7fc0	@DISEASE$, dystonia-deafness, hepatopathy, @PHENOTYPICFEATURE$, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.	false
+1839eebe6c24dd143559e82177bb03eae91003bf	@DISEASE$ associated with carcinoid endobronchial @PHENOTYPICFEATURE$.	false
+e6fa26544017256614fb89363b77ceac19e08c4b	Although hemangiomas, benign @PHENOTYPICFEATURE$ of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called @DISEASE$.	false
+8af5f7b1247bcd75a60baa60d41ace0fe17a3e57	Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign @PHENOTYPICFEATURE$ at that age, their association with other malformations constitutes a rare neurocutaneous disorder called @DISEASE$.	false
+10d2ff60534e09e115c784182751cce8af37cf71	Posterior fossa @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	false
+a6b6b3c1aab1f8e3248e769f6ee8e4e166d8484d	@PHENOTYPICFEATURE$ and diabetes insipidus with localized hypertrophic pachymeningitis (Tolosa-Hunt syndrome) associated with @DISEASE$.	false
+cf97664428947de9b78d08ab7c663bb70217d06e	We report a 69-year-old woman with intracranial pachymeningitis showing @PHENOTYPICFEATURE$, diabetes insipidus, and Tolosa-Hunt syndrome associated with @DISEASE$ confirmed by autopsy.	false
+404982a3668bbe5c03c84a0f0f43c10dd3908d50	However, sporadically these antibodies were found also in about 20% of patients with @DISEASE$, Lupus erythematosus or @PHENOTYPICFEATURE$.	false
+a46e1eba0effb145622a4a06ff40434ddba08d37	Seven patients with organic CNS lesions--three with histiocytosis X, one with @DISEASE$, one with neonatal @PHENOTYPICFEATURE$, one with an anterior encephalocele and meningitis, and one with neurofibromatosis who had normal growth hormone concentrations (greater than 7 ng/mL) despite a subnormal growth rate--were studied.	false
+2ed9d2e03c15c74b96dde9acbaac5f3137b24a5a	We showed a significantly increased blood vessel density in IBD and dextran sulfate @DISEASE$ @PHENOTYPICFEATURE$.	false
+e94fca212770b905a8b541b47c8a1063930ff9a8	Pentobarbital @DISEASE$ @PHENOTYPICFEATURE$ is a second-tier treatment that can be used to treat RICH.	false
+017897f90f5ded8fe1de5e33bdea447d1cd3a5b8	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, @DISEASE$, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+2fc6666f8da29d90644bf6106a5851a1def91a33	This cohort is the largest described with a variable @DISEASE$-channel @PHENOTYPICFEATURE$ phenotype caused by a single SCN4A mutation.	false
+6eeae83b4419669d0304a07dc373624d7ca6262a	Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, @DISEASE$, hydrocephalus, and @PHENOTYPICFEATURE$.	false
+e89bb698185e068a8058ee0cf145e16eaf41a55a	After partial unilateral @PHENOTYPICFEATURE$, a nephrectomy was performed to determine the blood and tissue levels of superoxide dismutase (@DISEASE$), malondialdehyde (MDA), protein carbonyl (PC), and nitric oxide (NO).	false
+57454b6453c103e35e5be51c5140bc098b830d84	Vasoactive compounds, including nitric oxide (NO) and @PHENOTYPICFEATURE$ @DISEASE$, may diffuse from venous endothelial cells and blood to the arterial wall during intestinal absorption.	false
+56b06c4f4a5e8005c2a2449a3d7d3f0dc30b6c53	These data indicate that women with @DISEASE$ have significantly lower vestibular @PHENOTYPICFEATURE$ thresholds compared with control women.	false
+ecde8c4887a3d8a96079561bdb3ee981c56bcb0f	Within the @DISEASE$ group, post-capsaicin spontaneous @PHENOTYPICFEATURE$, punctate hyperalgesia and dynamic allodynia were similar in the forearm and foot.	false
+47e175dcc5378b1376f89316487c79d4618024d0	Vulvar vestibulitis syndrome (@DISEASE$) is a chronic, persistent syndrome characterised by vestibular @PHENOTYPICFEATURE$, tenderness, and erythema.	false
+cb34d6388321908b4fcec5a5283523b10e337056	The results of this prospective open clinical trial (N = 76) indicate that a cognitive-behavioral group program for women with vulvar vestibulitis syndrome (@DISEASE$) affects sexuality, pain control, vaginal muscle control, and vestibular @PHENOTYPICFEATURE$ and that these changes may mediate changes in pain during intercourse.	false
+6d18d7eb032f0ec4c2acb8b7d565ca74389f34d2	Vulvar vestibulitis syndrome (@DISEASE$) is associated with enhanced @PHENOTYPICFEATURE$ sensitivity.	false
+c2524e85e72aa83e246387c44ff3b12af036a3ba	We present a primary B-cell @DISEASE$ affecting palatine tonsils with interfollicular pattern in a 54 year-old man that clinically presented with symmetric / bilateral tonsillar enlargement and @PHENOTYPICFEATURE$.	false
+4f93176fb30f3b8dbbec6c3f340f96a7918b8f99	We identified elevated serum FGF23 levels in one patient with @DISEASE$ (CLL) and @PHENOTYPICFEATURE$, prompting us to examine FGF23 concentrations in other patients with B-cell neoplasms.	false
+565abd583b4c39cabbf798b026e82e811982d6a4	A 55 year old patient with @DISEASE$ is reported in whom hypercalcemia occurred associated with @PHENOTYPICFEATURE$ and elevated parathyroid hormone levels (C-terminal assay).	false
+24e141bf25890ac4102dc7cef7b0a9cff80aae96	In the studied model, there was neither @DISEASE$ @PHENOTYPICFEATURE$ nor neuropathy.	false
+5fa07b18ea02e5986fb6b72e7342910e9a8e7dbf	P<0.001) after adjusting for monthly income, geographic location, urbanization level, hypertension, diabetes, coronary heart disease, @PHENOTYPICFEATURE$, obesity, and alcohol abuse/@DISEASE$ syndrome.	false
+649eaa3aab9b11ed5a4bbe1eb019ac7e924435a2	The aetiologies found were: @PHENOTYPICFEATURE$ heart disease alone in six cases; hypertensive and @DISEASE$ heart disease in two cases; alcoholic heart disease alone in five; alcoholic and pulmonary heart disease in one; alcohol with possible hypertensive heart disease in one.	false
+48402592eccbc82806d756a913ba08fc47ca7e14	The aetiologies found were: @PHENOTYPICFEATURE$ heart disease alone in six cases; hypertensive and alcoholic heart disease in two cases; @DISEASE$ heart disease alone in five; alcoholic and pulmonary heart disease in one; alcohol with possible hypertensive heart disease in one.	false
+8ea5600700673cb2422bc14428c59d8d950700a6	In addition, male sex, low body mass index, absence of @PHENOTYPICFEATURE$, low income, low educational status, smoking, and heavy @DISEASE$ consumption were associated with elevated high frequency hearing thresholds.	false
+dfebf3d3c6da9a09ccbb1660828674f83afe6522	It was confirmed, inter alia, in post-traumatic stress disorder, depression, @PHENOTYPICFEATURE$, schizophrenia, and @DISEASE$ syndrome.	false
+c217b50135686ec1d8a5ae996864ead0ee7a7390	when compared with controls after adjusting for monthly income, geographical location, hypertension, diabetes, coronary heart disease, @PHENOTYPICFEATURE$, obesity and alcohol abuse/@DISEASE$ syndrome.	false
+f044758adc8c8bcb12eca33b44be69de4ee20681	compared to controls after adjusting for hypertension, diabetes, coronary heart disease, @PHENOTYPICFEATURE$, obesity, prostatitis, gonorrhea or chlamydia infection, testitis or epididymitis, and alcohol abuse/@DISEASE$ syndrome.	false
+8a18cfdf8e427beb6e4dcd82c2f5eb5ccf57bd00	cerebral palsy, @PHENOTYPICFEATURE$, foetal @DISEASE$ syndrome and attention deficits) were identified and summarized.	false
+2c53f52d4da9bfb7b9ae10165c75af5fc3e9072f	Two patients with signs of @DISEASE$ brain disease of the Wernicke-Korsakoff type were found to have an unusual @PHENOTYPICFEATURE$ manifested basically as a resting tremor.	false
+0ad3f1d7c132e0dad98d128059e61213a29b1a23	Serum carnosinase activities in patients with @DISEASE$ chronic skeletal muscle @PHENOTYPICFEATURE$.	false
+58f1151fcec573ce761ae2b56f54b3ae7af44d55	Side effects were observed in 25% of patients: 6% required suspension of therapy due to pro-arrhythmic effects in one patient on intravenous administration, @PHENOTYPICFEATURE$ in one case and hypotension in two postoperative @DISEASE$ patients.	false
+e4f899f8b817d7b375757b67310aa9170c6c3d98	@DISEASE$ (AOA2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, @PHENOTYPICFEATURE$, loss of Purkinje cells and elevated ?-fetoprotein.	false
+289d9a6c279f2d641f22e0eccaf41865fdbc0ca3	Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as @DISEASE$ (AOA2) and characterized by generalized incoordination, cerebellar atrophy, @PHENOTYPICFEATURE$, "oculomotor apraxia" and increased alpha-fetoprotein (AFP).	false
+55b831ff74365b6ab75fabdcda1685ed214bee64	We describe a two-generation family with combined clinical features of @DISEASE$ external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive @PHENOTYPICFEATURE$, basal ganglia calcification, and ragged-red fibers in a muscle biopsy specimen.	false
+6102b8e2fe6653ef4ee27df8989866063cbbc387	[Endoscopic triple neurectomy for @PHENOTYPICFEATURE$-induced inguinal @DISEASE$].	false
+a49e3cee87777dc912e73643e791202c719e3722	During the following 3 years she developed severe and complex post-traumatic @DISEASE$, which consisted of neck pain, lumbar pain, sensory-motor dysfunction, and @PHENOTYPICFEATURE$ muscular contractions.	false
+46d5c20c7fbffdbfc3d5b387d75f97d6afe83e8f	[Conversion from peridural to transdermal opiate analgesia in abdominal @PHENOTYPICFEATURE$ @DISEASE$].	false
+cda13d42224a7a896d8cfc3ca5c2fc57793be32c	Acute @DISEASE$ at @PHENOTYPICFEATURE$ site in neoplastic patients treated with vinorelbine: report of unusual toxicity.	false
+400f7cd958f5ee875de7cb3fa46d17021ecef359	It augments diagnoses, including stress or occult fractures, musculoskeletal @PHENOTYPICFEATURE$ or infection, and chronic regional @DISEASE$, in patients presenting with normal results on radiographs.	false
+bad46d604105c1150b64b6d0a76c9c0d53df4e87	Breast cancer is a common neoplastic @PHENOTYPICFEATURE$ in women, and the postmastectomy @DISEASE$ has been reported frequently after surgical treatment.	false
+7f367c36891779554d876df65f1c00b7857338cd	Sm-153 EDTMP therapy should be considered for patients with early @PHENOTYPICFEATURE$ from prostate cancer even if their BS only indicates a few metastases before the initiation of a severe @DISEASE$.	false
+6d195b2f2ec115b336fefa601dc89f8d2a546924	Changes in this microbiome have been observed in certain urologic disorders such as urinary incontinence, urologic cancers, interstitial cystitis, @PHENOTYPICFEATURE$ dysfunction, sexually transmitted infections, and chronic prostatitis/chronic pelvic @DISEASE$.	false
+51ad23be368e6f269a23d2ff8bb30f988179b52a	Shorter survival time was found to be associated with @DISEASE$ and @PHENOTYPICFEATURE$-produced skin symptoms as well as in cases of tumor misdiagnosed as hematoma.	false
+84fd6289add5c2c4b2d4833b3071a75f60123305	Shorter survival time was found to be associated with @DISEASE$ and tumor-produced skin symptoms as well as in cases of @PHENOTYPICFEATURE$ misdiagnosed as hematoma.	false
+355ae0eb2c56628d7f8c265656ccfb989adf85b9	Central post-stroke pain (CPSP), one of the complications of @PHENOTYPICFEATURE$ and neuropathic @DISEASE$, is associated with specific somatosensory abnormalities.	false
+f957854d76c1e6935f56dd390ef484ec91c5381c	@PHENOTYPICFEATURE$ rarely occur in @DISEASE$ (MM).	false
+a885e84c81cf6e1c34ed726f68f5170e545709e2	@PHENOTYPICFEATURE$ was more pronounced in patients with @DISEASE$.	false
+aea8d8698869d44c98151f9fa493b00e14be3f57	Symptomatic @PHENOTYPICFEATURE$ and renal impairment associated with bisphosphonate treatment in patients with @DISEASE$.	false
+50711d097f6c848937b6d30d4cf605dd5c09057a	A case of meningeal @DISEASE$ presenting as obstructive @PHENOTYPICFEATURE$--a therapeutic challenge.	false
+78bff7283e8942b6c9214be06d3e602c6577da24	Patients having hypercalcemia, @PHENOTYPICFEATURE$, @DISEASE$ and on long-term steroids were also excluded.	false
+8ee60810fb401399da6f0f98f91398db9571da04	An antibodylike paraprotein has been isolated from a patient with @DISEASE$ and @PHENOTYPICFEATURE$ hyperlipoproteinemia.	false
+35add144470ee6e3351434786ef924d84fbb0bd1	@PHENOTYPICFEATURE$ associated with the use of Bortezomib in @DISEASE$.	false
+e849acbb417e48eb607f3ed8bf00601c9bc1e59d	Neoplasia was diagnosed within 3 years of neurologic onset in 6 of 16 patients (38%): prostate and gastroesophageal adenocarcinomas, @DISEASE$, @PHENOTYPICFEATURE$, colonic carcinoid, parotid pleomorphic adenoma, and teratoma.	false
+49a6786afd99415d398e9c5da224814dd9370a55	High-output @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+eb43e7fb4325176704be3d0c9184d2de849eb28a	We present a 57 year old female patient with IgG @DISEASE$ and marked @PHENOTYPICFEATURE$.	false
+8b9b681bf89124a952d83c7ed9a9cabde26131b9	We hereby report a case of @DISEASE$ manifesting with encephalomyopathy, @PHENOTYPICFEATURE$ and hypertropic cardiomyopathy due to a missense p.R20C mutation in the COX6B1 gene, which encodes an integral, nuclear-encoded COX subunit.	false
+443414740ae13d5047caa5647a9712f7a0789c29	@DISEASE$, caused by mutated COX6B1, is associated with encephalomyopathy, @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+f8829f6486953ec09d308ed907c646f24464be30	Successful treatment of @PHENOTYPICFEATURE$ with enoximone in a patient with @DISEASE$.	false
+90dc4d03686f0de110d420e97b5060d87d922b0f	In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, @PHENOTYPICFEATURE$, cystic renal disease (@DISEASE$ dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis.	false
+f053004991f94cdadba5f19fed481843d37da444	In addition to features more commonly described in MVA such as microcephaly, @PHENOTYPICFEATURE$, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, @DISEASE$, ventricular septal defect, and subaortic stenosis.	false
+b2076b9bfcf9e6126492b940e0815bff18bb7d09	As well as colorectal polyps, these individuals can present with extra-colonic symptoms, among which are particularly: gastro-duodenal polyps, dermoid and @DISEASE$, desmoid tumours, congenital hypertrophy of the retinal pigment epithelium, disorders of the maxillary and skeletal bones and @PHENOTYPICFEATURE$.	false
+c42b6efb88422e02f37593d8f94994c601362df4	GS is a variant of familial adenomatous polyposis characterized by extracolonic manifestations including osteomas, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8c6cf4191a68328c986b584e292561cca430f6cb	Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, @PHENOTYPICFEATURE$, @DISEASE$ and ocular abnormalities.	false
+4765cac6ff11402ced91dd3222610f8c64d921cc	The same applies to a variety of associated manifestations including @DISEASE$, osteomas, @PHENOTYPICFEATURE$, desmoid tumours, retinal pigmentation and upper gastrointestinal polyps.	false
+2e7170e0d45d7a241e6b386c7e00073fd39ec59d	@PHENOTYPICFEATURE$ in @DISEASE$: a lesson from an autopsy case.	false
+699c0a279cee4540b03b2ffcf3b65dbbe4e22883	However, the patient still suffered many complications after the severe metabolic insult with hypoxic ischemic encephalopathy, @PHENOTYPICFEATURE$, global developmental delay and @DISEASE$.	false
+760c83e99749fe2ede74274c5784b0d84c958b92	@DISEASE$ (CVI) was found in 27.2% (97% @PHENOTYPICFEATURE$), albinism in 8.0%.	false
+2bcb0441928b670276b6b1aff8e79da25ecf1acb	The clinical features consisted predominantly of @PHENOTYPICFEATURE$, dysarthria and horizontal nystagmus, which was generally consistent with @DISEASE$ type 3. However several new clinical features were found in some patients: dramatic anticipation, rapid disease progression, severe ataxia associated with action tremor or action myoclonus, and very early onset, which are not described as the classical features of ADCA type 3.	false
+084662f00ea92adf3a6f64cadd58ab5c60a129e0	The clinical features consisted predominantly of @PHENOTYPICFEATURE$, dysarthria and horizontal nystagmus, which was generally consistent with ADCA type 3. However several new clinical features were found in some patients: dramatic anticipation, rapid disease progression, severe ataxia associated with action tremor or action myoclonus, and very early onset, which are not described as the classical features of @DISEASE$ type 3.	false
+59af0acca0901bf47d418dbf515f28d74c55b230	The clinical features consisted predominantly of cerebellar ataxia, dysarthria and horizontal nystagmus, which was generally consistent with @DISEASE$ type 3. However several new clinical features were found in some patients: dramatic anticipation, rapid disease progression, severe @PHENOTYPICFEATURE$ associated with action tremor or action myoclonus, and very early onset, which are not described as the classical features of ADCA type 3.	false
+7fd98119a761be174c82a1becc866934df3cca03	The clinical features consisted predominantly of cerebellar ataxia, dysarthria and horizontal nystagmus, which was generally consistent with ADCA type 3. However several new clinical features were found in some patients: dramatic anticipation, rapid disease progression, severe @PHENOTYPICFEATURE$ associated with action tremor or action myoclonus, and very early onset, which are not described as the classical features of @DISEASE$ type 3.	false
+d075b6fa37f0344946604fbe65b0fea46d80cb84	We now have screened a large series of patients with @DISEASE$ or isolated cases with @PHENOTYPICFEATURE$, for the presence of proteins with polyglutamine expansions.	false
+8e190b5d4b8a804a8e43ca1f134ba0798efead7d	Common clinical signs in this family include @PHENOTYPICFEATURE$, dysarthria and severely impaired vision with the phenotype @DISEASE$ type II.	false
+c2be3bfbb9afb577e11719db12d23f3fbf9c434d	Autosomal-dominant cerebellar ataxia (@DISEASE$) type II is a neurodegenerative disorder presenting with @PHENOTYPICFEATURE$ and retinal degeneration.	false
+44cbd6a921d000b82c5b65415d788fa644d996bb	The presence of any early DWI/@DISEASE$ lesion and increasing lesion volume were associated with worse Hunt-Hess grade, Glasgow @PHENOTYPICFEATURE$ Scale score and Acute Physiology and Chronic Health Evaluation II physiological subscores (all p<0.05).	false
+a06752852c606beff0dd075a5da8a606cbe8b445	We used our recently developed normative, age-specific ADC atlases to quantitatively identify @DISEASE$ abnormalities, and correlated presymptomatic ADC abnormalities with risks for @PHENOTYPICFEATURE$.	false
+cb366b865b9169570d24bf322541535fe3ec765b	We used our recently developed normative, age-specific ADC atlases to quantitatively identify ADC abnormalities, and correlated presymptomatic @DISEASE$ abnormalities with risks for @PHENOTYPICFEATURE$.	false
+4c08a749557ad1ccd3b35cb00701b2c334520d13	In our rabbit model of CP, the MRI biomarker, apparent diffusion coefficient (@DISEASE$) on diffusion-weighted imaging, predicted which fetuses will develop postnatal @PHENOTYPICFEATURE$.	false
+4de9b78b5f4effb774ce38a9fa9ce5b3f62689e0	@DISEASE$ showing pure @PHENOTYPICFEATURE$.	false
+7e38e1515859db48c4c0568ecb87d809cfb88cd9	We investigated 64 families of German ancestry with @DISEASE$ and 55 patients with sporadic @PHENOTYPICFEATURE$ for the SCA2 mutation.	false
+7b8a7ded8039ac3d31e3b102ca160ace41fa439c	We report a family with six individuals affected with @DISEASE$-DN; specifically, patients first developed hearing loss and @PHENOTYPICFEATURE$, followed by narcolepsy, and cognitive decline.	false
+a726afd6b93bb4efa5b4bf83e904a79258a6b527	The authors recently experienced a case of @DISEASE$ in a patient who developed sinusitis, yellowish nails, bilateral @PHENOTYPICFEATURE$ of the extremities, and subclinical rheumatoid arthritis after the implantation of a cardiac pacemaker made from titanium.	false
+4e437c5d3efe3b66a249407adf8e6dbb05fcf2e1	A 70-year-old woman with @DISEASE$ and right-sided pleural effusion, lower extremity @PHENOTYPICFEATURE$, and hypoalbuminemia was followed for 18 months.	false
+b6f9347f4874fa43f0ea395eb29271caaaa32162	Occular involvement is infrequent and @PHENOTYPICFEATURE$ rare in @DISEASE$.	false
+5a21c0e533c50d7fe5ccce23d68df306f78dae80	We describe a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$.	false
+44b58707b74beb327ccb1ff90526b477fe77e587	Relationship between the development of @PHENOTYPICFEATURE$ in @DISEASE$ and anti-myeloperoxidase antibodies.	false
+9a31fa4d46d5f562f84b7eb96d5a9e7e88fb12b0	We describe the case of a patient who presented with monocular @PHENOTYPICFEATURE$ due to central retinal artery occlusion, as the first symptom of @DISEASE$.	false
+0871cdb7e0432a7ad6ddf57c47c42957b24e5908	Reversible monocular @PHENOTYPICFEATURE$ complicating @DISEASE$.	false
+1359e9efafc9857ce390cc8432f5fadc57934080	[@DISEASE$, @PHENOTYPICFEATURE$ and skin pigmentary abnormalities: Waardenburg syndrome].	false
+b04eba84f1070a491767677ca5d80f209775a346	We report a 31-year-old female with @PHENOTYPICFEATURE$ and pulmonary stenosis who developed a @DISEASE$: this combination of anomalies has not been described previously.	false
+51960f5028c8fbe811a9ae47d406a9e1d92e8ade	@DISEASE$ in association with pulmonary stenosis and @PHENOTYPICFEATURE$.	false
+563bc9533c8cd45ed16a901a2d61fdaa35986c79	At the end of follow-up, incidence of @PHENOTYPICFEATURE$ (47.6% vs 19.5%), hypertension (69.6% vs 16.3%), hypertriglyceridemia (39.1% vs 16.3%), hypercholesterolemia (24.5% vs 17.3%), impaired fasting glucose (IFG) (25.1% vs 11.6%), diabetes mellitus (20.3% vs 5.2%) and multiple metabolic disorders (@DISEASE$) (56.3% vs 16.3%) were significantly higher in the fatty liver group than the control group.	false
+a2d5a2517661d5d5586f51d8550a1adb113d0a06	@DISEASE$ is characterized by progressively worsening muscle loss and weakness, cardiac conduction abnormalities, cardiomyopathy, restrictive lung disease, @PHENOTYPICFEATURE$, and delayed gastric emptying.	false
+92a98312cee417ec4a0945febe3e7dfec39cb5b4	A case of 'central @PHENOTYPICFEATURE$' is presented in a 3-year-old male Caucasian child with Moyamoya disease (@DISEASE$); a rare, progressive and occlusive cerebrovascular disorder predominantly affecting the carotid artery system.	false
+3c2f89aefb86d105e7ae666eb9a32b6d59895bdf	A structured PA program reduced the risk of @DISEASE$ even in older adults with extreme @PHENOTYPICFEATURE$.	false
+6636b2df3b48cef8152de1bd6920716a4372a0fd	To our knowledge, this represents the first documented case of paternal linkage in @DISEASE$ with central @PHENOTYPICFEATURE$ in a Caucasian child with no apparent Japanese ancestry.	false
+82db5c6017e0066688a09e581095015904a04957	This study tested the homogeneity of the effect of a physical activity intervention on major mobility disability (@DISEASE$) across baseline @PHENOTYPICFEATURE$ classifications in the Lifestyle Interventions and Independence for Elders (LIFE) Study.	false
+cf19d39652d5c98fb8fdc7584c49ac50682d926e	Patients with @DISEASE$ and NSTEMI were older than patients with STEMI or UA, had more comorbid conditions (diabetes, prior myocardial infarction, @PHENOTYPICFEATURE$), and were less likely to receive aspirin, unfractionated heparin, or revascularization therapies during the index hospitalization.	false
+d783e4fa017ca3bf166cb874a716186cc2cd566b	[@DISEASE$ with pulmonary and @PHENOTYPICFEATURE$ caused by acute pneumonia--a case report].	false
+bf916498ebb52f666c992d9d92903d90e9e4a88b	The propositus is a 14-month-old boy presenting with @DISEASE$, distal limb transverse defects, @PHENOTYPICFEATURE$, and a wide atrial septal defect.	false
+39d40a48ee2362b8d65305cfaf79791675826818	All patients with Adams-Oliver syndrome (@DISEASE$ and terminal digital anomalies) should be evaluated for @PHENOTYPICFEATURE$.	false
+7c4d9006c4d913116a95c4eb1ffe4753385e935e	Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by @DISEASE$, terminal transverse limb defects and cutis marmorata with vascular anomalies such as @PHENOTYPICFEATURE$.	false
+7d2846341b81a01079359dfffafeaff5326aae75	The anomalies and physical features that are discussed include birth parameters, @DISEASE$, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, @PHENOTYPICFEATURE$, ventral wall defects, and polydactyly.	false
+9fceee0c675eb1654bb70ccf754ad6f0cd113dcd	Clinical examination of the 33-year old proband, initially diagnosed as @DISEASE$, revealed widespread blistering, particularly on pretibial areas, poikiloderma, nail dystrophy, loss of teeth, early onset @PHENOTYPICFEATURE$, and esophageal webbing and strictures.	false
+623c7b4aa996efced709e2f49b40335ff4fdb7c0	The proband exhibited a typical phenotype of SCA7, which includes @DISEASE$ and spinocerebellar @PHENOTYPICFEATURE$.	false
+694c1186e4f5aeb00c4ab5a228f172c2ee2589be	Prominent features include rod-@DISEASE$ leading to blindness, postaxial polydactyly, central obesity, learning @PHENOTYPICFEATURE$, hypogonadism in males and renal dysfunction.	false
+069753e565d4a72ea483b208488f296651c5a2e5	Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal @DISEASE$, and @PHENOTYPICFEATURE$: the M syndrome.	false
+70561b18c7c3db855c8ec4d1e3ccc200ef4b03dd	Primary clinical features include rod-@DISEASE$, polydactyly, central obesity, genital abnormalities and @PHENOTYPICFEATURE$ often presenting as learning difficulties.	false
+d7d6bd03d9526305e57ff91b19e9153709308861	Other clinical signs and symptoms of BBS are: polydactyly, hypertension, hyperlipidemia, hypogonadotrophic hypogonadism, @PHENOTYPICFEATURE$, rod-@DISEASE$, genitourinary and renal abnormalities.	false
+d2f9938d4ed609b11cdbfe4f93953d9b98940b59	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, @PHENOTYPICFEATURE$ or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+155796b9745bdcf0b8156e5ba88a50e43d1dccb9	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, @PHENOTYPICFEATURE$ or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+c07dace6c9b20f97590f519f372516ec9bb25ee5	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or @PHENOTYPICFEATURE$, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+bab8a44961789f3c2206f3ee0d1bb545eb60bf03	The principal manifestations are rod-@DISEASE$ (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, @PHENOTYPICFEATURE$, hypogonadism, and renal dysfunction.	false
+233eb1a7f055d451b03521fe6607d01400361709	BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of the kidney, rod @DISEASE$, and varying degrees of @PHENOTYPICFEATURE$.	false
+7700817d11137c7d96fa424434c07f95554bc43c	Bardet-Biedl syndrome is an autosomal recessive disorder characterized by rod-@DISEASE$, postaxial polydactyly, obesity, hypogenitalism, @PHENOTYPICFEATURE$, and renal dysfunction.	false
+df059bfe2ec8601ad799cea655e6c7b981df9b2e	Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-@DISEASE$, postaxial polydactyly, central obesity, @PHENOTYPICFEATURE$, hypogonadism, and renal dysfunction.	false
+262a541de89977f603d79004f00f5f9c4003d442	Distributions of @DISEASE$ as well as age, gender, income, region of residence, and medical comorbidities, such as diabetes mellitus, hypertension, renal disease, @PHENOTYPICFEATURE$, and ischemic heart disease, in the 2 groups were examined by ?(2)-tests.	false
+bf8db91fe44c96baae00ee324ebe2aecb4a1d4c0	CASE REPORT A 54-year-old male with past medical history of poorly controlled diabetes mellitus type II, @PHENOTYPICFEATURE$, gastroesophageal reflux disease (@DISEASE$), and remote history of DVT presented to our emergency department with 2-week history of progressively worsening left calf pain and swelling.	false
+aab2255524ceabb6aff0d815e4cdc68656f5870a	How is the autonomic nerve function different between gastroesophageal reflux disease alone and @DISEASE$ with @PHENOTYPICFEATURE$ neuropathy?	false
+ed7e3515f29292ea0e4279bf28c7df9fe117f1e0	Peripheral @PHENOTYPICFEATURE$ was present in 93 of 120 (77.6%) patients with @DISEASE$ compared to 33 of 126 (26%) patients without GERD (?(2)=9.016,	false
+b8922d409e16c33c81c4a1a76ba0ed2a6e0c712d	We report on a female infant with short stature and @PHENOTYPICFEATURE$, multiple congenital abnormalities, developmental delay, and @DISEASE$.	false
+966d488e652aeafb7256e51780eb09c410c867e1	We describe a mother and her son with short stature, progeroid facies, @DISEASE$, teething delay, and mild developmental retardation, particularly @PHENOTYPICFEATURE$, which are characteristic features of the SHORT syndrome.	false
+5a8786517b7bb78065d4c9cf09ac8b47e8ddbd43	@DISEASE$ associated with @PHENOTYPICFEATURE$ and hearing loss.	false
+42b97bb32f33f7cb9388430af404288a72762513	@DISEASE$: a case associated with bilateral interstitial @PHENOTYPICFEATURE$ and hypothyroidism.	false
+0c622c4f0f7182a0541358713d6b9837530f19e4	This mouse line is an excellent model for studying @DISEASE$-type @PHENOTYPICFEATURE$ in humans.	false
+966a3e35bf821c910b5413e8a8f1c2799c3bb4a7	Identification of a novel homozygous mutation in MYO3A in a Chinese family with @DISEASE$ non-syndromic @PHENOTYPICFEATURE$.	false
+94e198ee0d4f3a8a2e6f3ca7e6e78cec699d9528	To investigate the mechanism of @DISEASE$-type @PHENOTYPICFEATURE$, we established a mouse model of Myo3a kinase domain Y137C mutation by using CRISPR/Cas9 system.	false
+32b531c93385a6ab0cd53e644f808b05bff640d4	Patients with @DISEASE$ frequently develop mood disorder, reversible brain atrophy with transient @PHENOTYPICFEATURE$, rarely delirium or psychosis.	false
+51f234ab12ce9775f1a2cc72a54db1300347c50f	Systemic side effects include growth suppression in children, osteoporosis, osteonecrosis, adrenal insufficiency, @DISEASE$, hypertension, glucose intolerance, diabetes, gastritis, gastroesophageal reflux, peptic ulcer disease, weight gain, emotional lability, behavioral changes, opportunistic infections, cataracts, glaucoma, myopathy, myalgia, dysaesthesia, pseudotumor cerebri, hyperlipidemia, malignancy, thrombosis, skin atrophy, @PHENOTYPICFEATURE$, and rebound flaring.	false
+5fb1d9440af0a724a932287abb34d84a0f12c38d	Adults with @DISEASE$ frequently develop brain atrophy, @PHENOTYPICFEATURE$, and depression, with partial to complete resolution after cure.	false
+196a225c404b4cf0ee2207bd0c98422a6da6990f	To evaluate the sleep disturbances of patients with @DISEASE$ and to examine the relationship between the @PHENOTYPICFEATURE$ and plasma levels of delta-sleep-inducing peptide-like immunoreactivity (DSIP-LI), we performed three polysomnographic/endocrinological studies in patients with Cushing syndrome.	false
+02ca9e53a74bfe5f81e7918f032ecb5adbe7459a	To evaluate the sleep disturbances of patients with Cushing syndrome and to examine the relationship between the @PHENOTYPICFEATURE$ and plasma levels of delta-sleep-inducing peptide-like immunoreactivity (DSIP-LI), we performed three polysomnographic/endocrinological studies in patients with @DISEASE$.	false
+87ad9b51033c54748f3d9e5baace99a72d296884	Mental disorders are one of the causes of @PHENOTYPICFEATURE$, for example insomnia due to depression in @DISEASE$.	false
+7517c2c9fd664fb753fbdf5ced027a24fe21e405	@DISEASE$ (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and @PHENOTYPICFEATURE$.	false
+00ae5b1218977822dda7d53bb3bb4ea4cf1e2ea9	Pontine and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+80b43401fed3bcaeec9cd88d98f5ff0b0e0c7eb3	Lennox-Gastaut syndrome (@DISEASE$) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and @PHENOTYPICFEATURE$.	false
+30afae2c0b23cac13cc0199e77dc990dd2c885cd	@DISEASE$ (LGS) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and @PHENOTYPICFEATURE$.	false
+11db275ca02ae8689499eb1820ab5ad05b13f064	Lennox-Gastaut syndrome (@DISEASE$) is a chronic and severe form of epilepsy characterized by intractable seizures, @PHENOTYPICFEATURE$, and abnormal electroencephalogram findings with slow spike-wave complexes.	false
+debf7c3cc5e18312288185dc2069bb5c3691fbb9	@DISEASE$ (LGS) is a chronic and severe form of epilepsy characterized by intractable seizures, @PHENOTYPICFEATURE$, and abnormal electroencephalogram findings with slow spike-wave complexes.	false
+ba79106d4d6cf2137fe93a7b22586e21c86a7f36	@DISEASE$ is characterized by variable etiology, multiple types of intractable seizures, and @PHENOTYPICFEATURE$ in most patients.	false
+245c3e86d54063063068fc326185d963bbc0d1f9	@DISEASE$ is a severe form of childhood epilepsy which is characterized by multiple seizures and @PHENOTYPICFEATURE$.	false
+57683e8b68056637cad6439920c4d3be6c003d60	Late-onset @DISEASE$ represents a rare, treatment-resistant generalized epilepsy that is disabling and may be associated with progressive @PHENOTYPICFEATURE$.	false
+056772d810197f89a088c476d8c1619b48a12a7b	Lennox-Gastaut Syndrome (@DISEASE$) is a category of severe, disabling epilepsy, characterized by frequent, treatment-resistant seizures, and @PHENOTYPICFEATURE$.	false
+b61a5590073cb36361dd126b6a76a0128ef6ae35	Lennox-Gastaut syndrome (@DISEASE$) denotes a refractory epileptic encephalopathy of childhood onset with the triad of generalized slow spike-wave (GSSW) on interictal scalp electroencephalogram (EEG), multiple seizure types, and @PHENOTYPICFEATURE$.	false
+5dd4ff67cadc4090cd175e15c09da2950bce9387	@DISEASE$ (LGS) denotes a refractory epileptic encephalopathy of childhood onset with the triad of generalized slow spike-wave (GSSW) on interictal scalp electroencephalogram (EEG), multiple seizure types, and @PHENOTYPICFEATURE$.	false
+b4030cd1e19a442a7f078363ef583f61ad7d9311	Chronic atypical absence seizures are a component of the @DISEASE$, a disorder invariably associated with severe @PHENOTYPICFEATURE$ in children.	false
+8b25e54263c39d08997a5037a2087e45d6e91953	@DISEASE$ is characterized by a slow spike-wave pattern on electroencephalogram (EEG), @PHENOTYPICFEATURE$, and multiple seizure types.	false
+4918ee3b0eca44dee50ce7790a45446e0b13f753	Subjects discussed include multifocal Purkinje cell tumors, benign congenital polycystic @PHENOTYPICFEATURE$ of the AV node, several types of congenital heart block, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the Wolff-Parkinson-White syndrome, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, familial atrial fibrillation, @DISEASE$, and apoptosis of the heart.	false
+a694433375532ab134f5afc82566d336fa8d1c0e	Subjects discussed include multifocal Purkinje cell @PHENOTYPICFEATURE$, benign congenital polycystic tumors of the AV node, several types of congenital heart block, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the Wolff-Parkinson-White syndrome, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, familial atrial fibrillation, @DISEASE$, and apoptosis of the heart.	false
+ba34f0bd295bfd567f5a7a713b6a6cc3182737c0	This may be cardiomyopathy, mitral valve prolapse, sometimes congenital heart defects or occasionally rare anomalies such as @DISEASE$, @PHENOTYPICFEATURE$, or right ventricular dysplasia.	false
+b2b7f7007da8f2ec889d7bce18c49e869a309158	A 48-year-old woman with @DISEASE$ (a hereditary long QT syndrome), asthma and an automatic implantable cardioverter defibrillator presented for laser surgery for debulking of a massive nasopharyngeal @PHENOTYPICFEATURE$ prior to radiotherapy.	false
+15a9fecba88a4b741c34f4591c42d11078b8ef29	Most likely, our patient had an acquired @DISEASE$, elicited by the combination of flecainide, hypomagnesemia and adrenergic stimulation during manipulation of the @PHENOTYPICFEATURE$.	false
+db9346b8f55cb936902394d4e17e7206112b2686	Infant VT can be a devastating arrhythmia, with high mortality for those presenting with myocarditis, @DISEASE$, or cardiovascular collapse with rapid VT due to @PHENOTYPICFEATURE$.	false
+0c8336e3d08f60e96dbe8f5c00b9c459e5375f02	Diagnoses included complex CHD, intracardiac @PHENOTYPICFEATURE$, cardiomyopathy, idiopathic VT, LV noncompaction, and @DISEASE$.	false
+87b28e825019e8a2813f536b927e905ded66121d	Genetic studies have proposed that beside @PHENOTYPICFEATURE$, Cavs may play a role in the development of atherosclerosis, cardiomyopathy, @DISEASE$, pulmonary fibrosis, and muscular dystrophy.	false
+1e6989e2f40f1db568b0d601dfa3c4c7182e0e50	Mutations in the ATRX gene cause @DISEASE$, an X-linked recessive developmental disorder resulting in @PHENOTYPICFEATURE$ and mild alpha-thalassemia with facial, skeletal and genital abnormalities.	false
+0b07f1e482867c30062fed0548a3ab720a59f2e0	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by @PHENOTYPICFEATURE$, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+68a877d115b3dbf81f1032acdaabb5c763a12d71	We have examined seven pedigrees that include individuals with a recently described X-linked form of @PHENOTYPICFEATURE$ associated with alpha-thalassemia (@DISEASE$).	false
+419a636bee2dd44489a36f4d80494a32d8a5d19d	Children born prematurely had 2.3 times higher odds of @PHENOTYPICFEATURE$/@DISEASE$.9 times higher odds of development delay, and 2.7 times higher odds of intellectual disability than term children.	false
+dc775b59e9aec8a37966620bef1a7776048b0482	Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, @PHENOTYPICFEATURE$, ambiguous genitalia, @DISEASE$, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities.	false
+eda16327b1dab64e5c43fc162449a5aaaec48a26	This study shows that improvement in diagnosis of NMIBC, mainly CIS and Ta @PHENOTYPICFEATURE$, obtained with @DISEASE$ with hexaminolevulinate as an adjunct to WLC vs WLC alone can be shown in routine clinical practice.	false
+8cca4b56c1fb7d00971094bfc1c9903410191e42	@DISEASE$: a lethal sclerosing @PHENOTYPICFEATURE$.	false
+217873e3eea3627b6969c5ee16c177e4e567afe8	Blomstrand osteochondrodysplasia (@DISEASE$) is a rare autosomal recessive sclerosing @PHENOTYPICFEATURE$ characterized by accelerated chondrocyte differentiation.	false
+2d33bab90790d00bc72b837af55dd4fd98855ebd	@DISEASE$ (BOCD) is a rare autosomal recessive sclerosing @PHENOTYPICFEATURE$ characterized by accelerated chondrocyte differentiation.	false
+742add88a6953413e19dbd5121acb4efa2826bb0	@DISEASE$: microcephaly, esophageal atresia, type III laryngeal cleft, malrotation, @PHENOTYPICFEATURE$.	false
+bd24a6bc8563dc2d41ae3bb2b471c58dc113ed21	We report a patient with the McCune-Albright syndrome and @DISEASE$, who developed secondary hypothyroidism and @PHENOTYPICFEATURE$, in whom surgical removal of the pituitary tumour was technically difficult.	false
+44cef06c9cc33e87c4800f76932dd0c3acfe3210	Controversial results have been reported in @DISEASE$, @PHENOTYPICFEATURE$, diabetes mellitus and steroid-induced (iatrogenic) RM myopathy.	false
+a60ac52befd91bf44a3408a7a64e2dd0435b236a	Urinary excretion of GH in healthy individuals and patients with @DISEASE$, @PHENOTYPICFEATURE$ and dwarfism.	false
+6eb41b82e3db3c17fe3ff209e3854f866bf88893	We present the clinical features, diagnostic studies und treatment in patients with @DISEASE$, Paget's disease, @PHENOTYPICFEATURE$, (Addisonian crisis), hypothyroidism and Graves' disease.	false
+5efc5431bd1c8844ec5b411aad9e3707eb036dfe	Muscle weakness in @DISEASE$ is common and may result from a combination of the direct effect of GH excess on muscle and other metabolic derangements (hypothyroidism, @PHENOTYPICFEATURE$, or diabetes).	false
+7102523f14670289809b40a2793ad0bb8cc92051	The Cox regression analysis revealed that, in the whole population, both general risk factors (age and physical status) and specific factors for @DISEASE$ (macroadenoma, @PHENOTYPICFEATURE$ and uncontrolled disease) were associated with death.	false
+0d7b41b127e686caa481cc9a5b2c9c6010bef0ce	Robotic SRS is a safe and effective treatment for @DISEASE$: radiation-induced visual complications and @PHENOTYPICFEATURE$ is rare.	false
+919fee798448c9365289dcddf99801b8fb4b620a	A computed tomography (CT) scan at admission revealed pituitary haemorrhage and the blood test confirmed the clinical suspicion of @DISEASE$ and an associated @PHENOTYPICFEATURE$.	false
+aff8a8d546ff263eb0754a7d3dd128cd8822d8cf	The mean (+/- SEM) IRSM concentrations in sera from normals and patients with @DISEASE$, @PHENOTYPICFEATURE$, GH deficiency before/after treatment, and Laron dwarfism were 1.45 +/- 0.17, 5.49 +/- 0.48, 0.19 +/- 0.07, 0.10 +/- 0.02/0.64	false
+db3428ca8fdda0cc511f7504e70a4e75fa3c771e	Pulmonary function was investigated in eight patients with hypopituitarism in order to determine if the lung is affected by the generalized visceral atrophy of @PHENOTYPICFEATURE$; six patients with @DISEASE$ and trophic hormone deficiencies were studied for comparison.	false
+30b0e1ab073f26941111a7dbd288680a1c37ac17	SLC26A4 mutation spectrum associated with @DISEASE$ @PHENOTYPICFEATURE$ and Pendred's syndrome in Pakistanis.	false
+7b6edf08a80951d7807f9387e019617032542744	Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or @DISEASE$ - non-syndromic hearing loss (NSHL) with @PHENOTYPICFEATURE$ such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).	false
+b3058d0e1b56df1616a2b1878a4b60251e7172cb	Pendred's syndrome and non-syndromic @DISEASE$ @PHENOTYPICFEATURE$ associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.	false
+a95fbf27131080bcfeace7ebad05113bcafcc58a	As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for @DISEASE$ @PHENOTYPICFEATURE$ and PDS in Pakistanis.	false
+02197514f1cf59b55bc7120f2f762a2afba83998	The patients included are with hypertrophic cardiomyopathy associated with left @PHENOTYPICFEATURE$, a patient with @DISEASE$ (MELAS), and a patient with fatal infantile cardiomyopathy.	false
+be2d7f38c2b9bd7841268df02e384a02c7da2d1f	A?41-year-old Caucasian female with @DISEASE$, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+3d888d8688569baef1bc87fe10e3c62815d86e4d	Acupuncture @DISEASE$ and facial @PHENOTYPICFEATURE$.	false
+e20e2e2a7ef82d11caa0f8d7fd6ec38aa72f5a0f	A strong relationship between @DISEASE$ and cervical spine @PHENOTYPICFEATURE$ exists, and widespread hyperalgesia is common in TMD.	false
+17e7987e42c29b4e88fe1241c2c3684e3ce386f5	A strong relationship between TMD and cervical spine @PHENOTYPICFEATURE$ exists, and widespread hyperalgesia is common in @DISEASE$.	false
+7312168bdf628d693ca2c3a8c1698a84aa423d91	Moreover, subjects with dental @PHENOTYPICFEATURE$ in addition to @DISEASE$ had increased prevalence of tinnitus than TMD alone.	false
+9410d63c2a527ef3a121da29666b49d2241846f5	Moreover, subjects with dental @PHENOTYPICFEATURE$ in addition to TMD had increased prevalence of tinnitus than @DISEASE$ alone.	false
+827aa2fcb7fc9e0727ad1f90c3d2793f0b23f240	Clinical and radiological investigations ruled out odontogenic pain, @DISEASE$ and other more common types of facial @PHENOTYPICFEATURE$.	false
+a4bae7171e03944af2af6af9d07ba15baaf6330f	Clinical and radiological investigations ruled out odontogenic @PHENOTYPICFEATURE$, @DISEASE$ and other more common types of facial pain.	false
+98ce734e57211abb5ad39748be3e10116532950e	However, sensitive @DISEASE$ patients had a short @PHENOTYPICFEATURE$ duration arguing against a transition from TMD to FMS over time.	false
+604e8f0afe778dddcd433e9042c57ae8df948a32	However, sensitive TMD patients had a short @PHENOTYPICFEATURE$ duration arguing against a transition from @DISEASE$ to FMS over time.	false
+011376ef49a876542ab602b814da9147e02e9fbf	Relationship between craniofacial @PHENOTYPICFEATURE$ and @DISEASE$ disorders: an epidemiological investigation.	false
+56b40d027ea4ed474775f57bc7ffeae693bc5b69	The role of the dental school in teaching @DISEASE$ and orofacial @PHENOTYPICFEATURE$.	false
+b4e483e7f720a7a46f8d98202f24b59f5c827386	Curriculum outline for adjunctive predoctoral education in @DISEASE$ and orofacial @PHENOTYPICFEATURE$.	false
+96c8c8d03c6d5e6ad121c8ecd9d13b465139c314	Overview of @DISEASE$ and orofacial @PHENOTYPICFEATURE$.	false
+13290e35d0889781c9cd33c95ef12059205da398	A female patient with Down Syndrome (DS) had neonatal @PHENOTYPICFEATURE$ with platelet counts exceeding 2,000 x 10(3)/microL and transient myeloproliferative disorder (@DISEASE$).	false
+95cb504fb1273226060acad1ff95a0eaad984e17	We present this rare case to highlight the association of @DISEASE$-Reilly anomaly and bilateral @PHENOTYPICFEATURE$ in Hurler's syndrome even in neonates.	false
+f5846ed00d5dc5a60ced368affa02c1724c17ee0	With the continued ethanol consumption, alcoholic fatty liver disease (AFLD, the earliest and reversible form of @DISEASE$) can further develop to more serious forms of alcoholic liver damage, including alcoholic steatohepatitis, fibrosis/@PHENOTYPICFEATURE$, and even eventually progress to hepatocellular carcinoma and liver failure.	false
+0acebf71b75adf59d06f162ba3939686685ab13f	HCT alone does not correct @PHENOTYPICFEATURE$ in MPSs and may not prevent development or progression of the peripheral neuropathy in sphingolipidoses and @DISEASE$.	false
+884c411ec39338e719a1eed41efa371f2a3bd7a4	Importantly, the impact of @PHENOTYPICFEATURE$ was less marked in patients with @DISEASE$ (HR = 1.31,	false
+33075474623e75cdd23d44561b33d89260ef5d1a	@DISEASE$, a rare genetic disorder, is associated with a total body increase in long chain fatty acids caused by defective degradation, and includes various nervous system abnormalities, @PHENOTYPICFEATURE$, in addition to adrenal insufficiency.	false
+b7a88711f0c6def1cb090a3c61223070bb17c2c0	Chronic and excessive alcohol consumption can lead to alcoholic liver disease (@DISEASE$), which is characterized by a spectrum of liver disorders, including fatty liver, alcoholic steatohepatitis (ASH), fibrosis/@PHENOTYPICFEATURE$ and hepatocellular carcinoma (HCC).	false
+f9ea00f7bc7fb354dd911e3d1a893c8793bd1253	Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including Alzheimer's disease, @PHENOTYPICFEATURE$, Parkinson's disease, @DISEASE$, and Smith-Lemli-Opitz Syndrome.	false
+facca7eb506bb34f952e907e778587232afe6964	@PHENOTYPICFEATURE$ and steatohepatitis represents the early phase of @DISEASE$ and are precursor stages for fibrosis/cirrhosis.	false
+a2d470dbc2fbd810074f006d4814314b9c5953bd	No T1 stage @PHENOTYPICFEATURE$ showed stenosis or @DISEASE$.	false
+4929b0ad86deff615aabb196fe7996f565dd491f	However, @PHENOTYPICFEATURE$ has less impact on the outcome of patients with @DISEASE$ than that of patients with non-alcoholic liver disease after LT.	false
+fdc5ad6befb2b5525b1cf9de31e0c078c67538d3	We report on a boy with severe @DISEASE$ hypoplasia, absent thumbs and patellae, @PHENOTYPICFEATURE$, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.	false
+aa40148a1813bb5b63f3d94b625a7cb4bce9152d	The significance of time-dose relationships in the use of local tumor @PHENOTYPICFEATURE$ (LTH) when combined with radiation (@DISEASE$) was studied in a murine fibrosarcoma.	false
+8b980636e34a4e32e9988344e29485b5cb02ddcb	Autosomal dominant asymmetrical @DISEASE$ dysplasia, @PHENOTYPICFEATURE$, and conductive hearing loss (facioauriculoradial dysplasia).	false
+e9d5c31c7fd7c8da0827884b3116388b64eefb63	We report on a neonate with deletion 22q11 (del22q11) presenting with @PHENOTYPICFEATURE$, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral @DISEASE$ aplasia.	false
+dc3d6c0a9f8c15cf559b27a52ffd3ee2b5e6672b	The tumoricidal activities of single dose x-irradiation (@DISEASE$) and concomitant Actinomycin D (AMD) with or without local tumor @PHENOTYPICFEATURE$ (LTH) on an in vivo Methylcholanthreme-induced fibrosarcoma (Meth-A) are described.	false
+a04ffe4aa05ccff463f1b717c2273d9f3f5ac0b6	@DISEASE$ ray defects and associated anomalies; unique nature of the radial deficiencies and @PHENOTYPICFEATURE$ in the TAR syndrome.	false
+7eb4508c1bd6a10ed2604589ce0549e4267ec911	Patients with FA may present with certain dysmorphic features, such as @DISEASE$ ray abnormalities, @PHENOTYPICFEATURE$, typical facies, bone marrow failure, or certain solid malignancies.	false
+38478de6f80e913396d541f4b118b83f69ada500	The objectives of this study were to quantitate the effects of local tumor @PHENOTYPICFEATURE$ (LTH) and concomitant x-irradiation (@DISEASE$) on a moderately radioresistant murine fibrosarcoma in situ.	false
+ec821fd8a40bd3a5226b339e53bb2858a097eb8c	Thus it is postulated that an association of @PHENOTYPICFEATURE$, inflammation, and atherosclerosis (@DISEASE$ syndrome) might exist in CKD.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+ca505b0b7bc7ce22024b735ae81ac4fd31ff10da	The aim of this study was to investigate @PHENOTYPICFEATURE$ in adults with @DISEASE$ (OI).	false
+ac5e783790eb7cc6afbdd0e03cacd85d19263b60	A girl manifesting a false median cleft lip associated with @PHENOTYPICFEATURE$, anophthalmos, hydranencephaly with holoprosencephaly, and @DISEASE$, among other disorders, survived and was fed mainly milk products up to the age of 11.	false
+9d4944c6ddc026f5a2b93c5380733264fa8121c3	Hypertrophic callus formation leading to high-output @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+0a7bb3a0d92dc721c4b243dc6a1c798f8d640c9b	@PHENOTYPICFEATURE$ in adults with @DISEASE$.	false
+394b474c1df3c0a210c3620e98e737e976eded49	UMN-D ALS and @DISEASE$ outpatients experiencing gait disturbances, secondary to moderate-to-severe @PHENOTYPICFEATURE$ despite optimized oral medication, were offered BoTox-A treatment.	false
+1948e7d15c94bdf1f631ff81befc60090be377cb	Peak incidence of @PHENOTYPICFEATURE$ for @DISEASE$ rats (547 seizures) was 1645 (95% CI = 1448,1830) and for MTLE subjects (774 seizures) was 1500 (95% CI = 1324,1636).	false
+3b15778662cb0d3a46bef965adca071a95065597	Peak incidence of seizures for @DISEASE$ rats (547 @PHENOTYPICFEATURE$) was 1645 (95% CI = 1448,1830) and for MTLE subjects (774 seizures) was 1500 (95% CI = 1324,1636).	false
+1149307711d8458289cd248677330a02f08a339b	Peak incidence of seizures for @DISEASE$ rats (547 seizures) was 1645 (95% CI = 1448,1830) and for MTLE subjects (774 @PHENOTYPICFEATURE$) was 1500 (95% CI = 1324,1636).	false
+697aaf2872e34ce44bb37e74e132fc80713003d3	Primary lateral sclerosis (@DISEASE$) is a diagnosis of exclusion in patients with progressive spinobulbar @PHENOTYPICFEATURE$ and could be part of the clinical spectrum of ALS.	false
+b9ae43d26e686e69ec767bace310b5dfc7b29a2c	In @DISEASE$ there is progressive spastic paresis but in contrast to ALS there is no lower @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+d5166b069328ba1357332c88418aff58c84acc2f	The aim of this study was to investigate if mutation in these genes is associated with upper @PHENOTYPICFEATURE$ in primary lateral sclerosis (@DISEASE$) or selected motor neurone disease (MND) cases.	false
+36dcd2990a1e5829e1d79aa8b5d75bc5593286f6	Primary lateral sclerosis (@DISEASE$) is a rare form of motor neuron disease characterized by @PHENOTYPICFEATURE$.	false
+adcacc70dff065e99210c50c2ccd9dcc47c4eb84	Primary lateral sclerosis (@DISEASE$) is the designation for the syndrome of progressive @PHENOTYPICFEATURE$ when no other etiology is identified.	false
+a4ba4a7533ab2d1f3f4c7a8cafda0d0d837c7b02	A factor analysis comparison of the ITPA and @DISEASE$ with @PHENOTYPICFEATURE$ children.	false
+175eae19768dcab641f89783175f9a3896fdcc48	Primary lateral sclerosis (@DISEASE$), the upper motor neurone variant of motor neurone disease, is characterized by progressive spinal or bulbar @PHENOTYPICFEATURE$ with minimal motor weakness.	false
+9dddeac85b0f991fc8c6ca06fa792f4e5b963a9e	Our discussion focuses on the importance of understanding this disease while considering the differential diagnosis of a patient presenting with @PHENOTYPICFEATURE$ and thrombocytopenia because the common pitfall of rapidly administering platelets to a patient with @DISEASE$ may lead to a disastrous outcome.	false
+89a4a7d866878ae0cb4d3d5f6b40817f3f3d3877	Tacrolimus (FK506)-induced hematological toxicity, which has rarely been reported in transplant recipients, may result in @PHENOTYPICFEATURE$ episodes, reported mainly in kidney and heart transplant recipients, sporadic cases of @DISEASE$/hemolytic uremic syndrome, red cell aplasia (4 reported cases), and generalized bone marrow suppression (only 1 reported case).	false
+890d2254353406ed01674c8836b960aa983b4ae9	It shows similarities to @DISEASE$ and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the visual impairment, the lack of characteristic facies, skin or gingival infection, @PHENOTYPICFEATURE$, 'mottled retina', polydactyly and small penis without testicular anomalies.	false
+c783780f2dc9bf6f4bdd455f3b9d79bc47e388d0	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, @DISEASE$, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+89073a66d00dcb55bc348fd4e7f8705dee32f53f	Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (@DISEASE$), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, @PHENOTYPICFEATURE$ and disrupted cochlear stereociliary bundles.	false
+585c049e0462e6ce21128b146273cf5a1220b972	Here we show that mice with mutations in genes involved in @DISEASE$ (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, @PHENOTYPICFEATURE$ and disrupted cochlear stereociliary bundles.	false
+ba40fec3f8283790bf6c36fe8665bcba2c6aae92	This new appreciation of primary cilia as cellular antennae that sense a wide variety of signals could help explain why ciliary defects underlie such a wide range of human disorders, including retinal degeneration, polycystic kidney disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a1b1720168ef9b4366831b7786ba08796eb9fed4	(1) Four cases were confirmed to meet @DISEASE$ diagnostic criteria (male: female = 1: 1): first diagnosis age was 10 y, 9 y 8 m, 10 y 10 m, 8 y 2 m. (2) Cases 1, 2, and 3 had a history of polyuria and polydipsia, cases 4 began with @PHENOTYPICFEATURE$ and oliguria.	false
+6db30ad79600a6ed93e4c7a350b1ddce6fd267b7	Tafamidis (Vyndaqel) is a novel specific stabilizer of TTR which, in the very early stages of met30 TTR @DISEASE$, slows the progress of @PHENOTYPICFEATURE$.	false
+926df51af1a1f45941e6a47bffc191855a466034	Liver transplantation can halt the progression of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+8aba566210fc6e83dee08140527d3b106bb3e209	An Arg283Stop mutation in exon 8 was found in 5 members in another family; 4 of them had @DISEASE$ and all had small @PHENOTYPICFEATURE$ white lesions, probably a new type of CHRPE.	false
+fc95b945e7ca0216fdc359289f2f3d675cbe79e9	Primary axonal degeneration and ganglionopathy due to amyloid deposition appear to be the pathogenetic mechanisms for @PHENOTYPICFEATURE$ in this type of @DISEASE$.	false
+324e70077b2e755be2c86b1a89940da61e3c063c	A large-scale study on CHRPE and APC mutations in Chinese @DISEASE$ patients is required to affirm their inter-relationships and the significance of the @PHENOTYPICFEATURE$ white lesions.	false
+dfc5999886c62648c73a80ab3fd6910c28fcfd2a	The hereditary amyloidoses are usually associated with @PHENOTYPICFEATURE$ and, for this reason, they have been called familial amyloidotic polyneuropathy (@DISEASE$).	false
+3a0fa6d7d2831f552dc5cdff4b7694a48a4284b1	Familial amyloidotic polyneuropathy (@DISEASE$) is a @PHENOTYPICFEATURE$ caused by the extracellular accumulation and deposition of insoluble transthyretin (TTR) aggregates.	false
+fc104c88799986dee2c7edaf01e41d7e69c5e0ed	In this type of @DISEASE$, amyloid deposition causes organ failure including @PHENOTYPICFEATURE$, autonomic disorders, gastrointestinal symptoms, and cardiac and renal failure.	false
+d069d4bb06f8f5f49300d0091f0c9dfbd7c0d77f	Familial amyloidotic polyneuropathy (@DISEASE$) is an autosomal inherited disease, characterized by extracellular amyloid deposits and by @PHENOTYPICFEATURE$.	false
+efe632daee7d18427e2832e406d5b0ee534fe9f2	Congenital @PHENOTYPICFEATURE$ in a child carrying a gene mutation for @DISEASE$.	false
+39bbcbbb1b88869731901ec5c637c364fbaaca37	@DISEASE$ and embryonal carcinoma: (2) those which were either negative or positive with distinctive patterns of staining--basal cell carcinoma, embryonal tumours: and (3) non-epithelial tumours that were consistently positive--epithelioid sarcoma, synovial sarcoma, osteosarcoma, @PHENOTYPICFEATURE$ and myeloma--or positive in a significant minority of cases--leiomyosarcoma, malignant fibrous histiocytoma, clear cell sarcoma of tendon sheath, various neuroectodermal tumours.(ABSTRACT	false
+5613bf8ec04e6fe878cf5e1cebde05f627647525	AbTG: Anti-thyroglobulin antibodies; AbTPO: Anti-peroxydase antibodies; AML: Acute myeloid leukemia; APRIL: A proliferating-inducing ligand; BAFF: B-cell activating factor; CAPA: Canadian Arthritis Patient Alliance; CI: Confidence interval; CIN: Cervical intraepithelial neoplasia; CT: Computed tomography; DLBCL: Diffuse large B cell lymphoma; dsDNA: Double-stranded DNA; EBV: Epstein-Barr virus; EULAR European League Against Rheumatism; IBD: Inflammatory bowel disease; HBV: Hepatitis B virus; HCV: Hepatitis C virus; HIV: Human immunodeficiency virus; HR: Hazard ratio; HSIL: High-grade cervical squamous intraepithelial lesions; HSV: Herpes simplex virus; HL: @DISEASE$; HPV: Human papillomavirus; MALT: Mucosa-associated lymphoid tissue; MDS: Myelodysplastic syndrome; MESNA: 2-mercaptoethane sodium sulfonate; NHL: Non-Hodgkin lymphoma; OR: Odds ratio; Pap: Papanicolaou; RA: Rheumatoid arthritis; SLE: Systemic Lupus @PHENOTYPICFEATURE$; SLICC: Systemic International Collaborating Clinics; SNPs: Single-nucleotide polymorphisms; SOGC: Society of Obstetricians and Gynaecologists of Canada.	false
+c66f341a855dd5b123bf9161d5fc880ae43d9ead	A case of multiple pulmonary @PHENOTYPICFEATURE$ carcinomas arising in a 53-year-old woman with @DISEASE$ is reported.	false
+bb447d33f256948049e8609ce7b03f43b59e94b0	@DISEASE$ is a well-described condition with a recognizable phenotype, including @PHENOTYPICFEATURE$, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL).	false
+550e0459c42e09bf70559aad7c609b20f398b7df	We studied 21 patients, from 18 families, with @DISEASE$ (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and @PHENOTYPICFEATURE$, seizures, and subcortical leukoencephalopathy.	false
+789c5e79e8311da04323ef3968aa69e96e3f24db	There may be abnormal development of the "vertebrae" in this region, ranging from hypoplasia to developmental failure and/or abnormal ossification of the cervical vertebrae; associated or unassociated @DISEASE$; poor ligamental fixation of C2 resulting in C1-2 subluxation; abnormal development of the posterior processes; abnormal ligamental development or laxity with abnormal cervical kyphosis or @PHENOTYPICFEATURE$; and, in the case of more fragile/brittle bone development (osteoporosis or increased bone density), fractures can lead to cervical spine problems.	false
+2cd78a313bbabb437ffcecb097d7aafb5f8567eb	@DISEASE$ with bilateral congenital @PHENOTYPICFEATURE$: a previously undescribed association.	false
+dc32ea98d8ca00108c61781d2938174791f7df59	Retinal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a811e894e9b6b1f11ad6f6eabea91098d9a007c7	Here, we reported a case of Sturge-Weber Syndrome (@DISEASE$) manifesting cutaneous vascular malformations (hemifacial Port-wine stain), cerebral and ocular @PHENOTYPICFEATURE$ (including epilepsy and glaucoma) and harboring a c.548G>A (p.R183Q) somatic mosaic mutation in GNAQ.	false
+224f521c57da8e7097ee806e0e114407cce97ac5	Here, we reported a case of @DISEASE$ (SWS) manifesting cutaneous vascular malformations (hemifacial Port-wine stain), cerebral and ocular @PHENOTYPICFEATURE$ (including epilepsy and glaucoma) and harboring a c.548G>A (p.R183Q) somatic mosaic mutation in GNAQ.	false
+46f5a3c8e9e4097438a66bda3228856771a69b54	The spike-wave discharges and @PHENOTYPICFEATURE$ of systemic penicillin epilepsy were always most frequent during @DISEASE$ and during drowsiness after awakening.	false
+41482bf7e8204651a4327a5cc1dc6cdde8b29727	@DISEASE$ (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral @PHENOTYPICFEATURE$, and potential eye involvement.	false
+eda20519e040f5aba1dadc0280bfe6200aaa1d49	Sturge-Weber syndrome (@DISEASE$) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral @PHENOTYPICFEATURE$, and potential eye involvement.	false
+786f2d3c9dee495964f34ca4cdd74af6a81acfce	A diagnosis of VHL carries substantial cancer risk, while the clinical issues in @DISEASE$ are primarily related to the consequences of the intracranial @PHENOTYPICFEATURE$.	false
+26b044b56fef3bcd0ef379c498fe468660bd4161	Further study of this transient ICMRGIc increase may be important in disclosing the pathogenesis of unilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+071e1821836c1e799685effb3e1d5bfc793c2a06	There was no disruption in the latency to @DISEASE$ and mild @PHENOTYPICFEATURE$ was evident only upon awakening.	false
+675f65dcae3906c27e37ff02aaec8958cd874e7b	Sturge-Weber syndrome (@DISEASE$), Klippel-Trenaunay syndrome (KTS), and Parkes-Weber syndrome (PWS) represent a wide range of congenital @PHENOTYPICFEATURE$ syndromes.	false
+e8c26db78cc8a48bc3901de99661977d5e57b566	@DISEASE$ (SWS), Klippel-Trenaunay syndrome (KTS), and Parkes-Weber syndrome (PWS) represent a wide range of congenital @PHENOTYPICFEATURE$ syndromes.	false
+85c6e40f348fbff4dc5490d1e0736dbbcd222eb6	I report the case of a child with typical @DISEASE$ who had a previously undescribed association with bilateral congenital @PHENOTYPICFEATURE$.	false
+aa99b38a67ffdeb5fbc7da38b0443c910389da38	We hypothesized that @DISEASE$ lesions would be characterized by vasogenic @PHENOTYPICFEATURE$ due to the potential reversibility of the disease.	false
+ab94b78e4ab32367152d64b0217adff4d561e7ec	Vasogenic @PHENOTYPICFEATURE$ characterizes pediatric @DISEASE$.	false
+571b6f0a82340e09365e0cded3fa3e376360ab4f	@DISEASE$ affects males and females equally, and is most commonly a result of de novo @PHENOTYPICFEATURE$, but can be inherited in an autosomal dominant fashion.	false
+2cabb9570cd300fb7549e085487b4791d1d484e9	@DISEASE$ is an autosomal dominant disorder classically characterized by craniosynostosis, @PHENOTYPICFEATURE$ and limb anomalies.	false
+e1adc92b4b44a70920a91a08201d5c2749071af4	We describe a fetus in whom sonographic findings (including 3D ultrasound) suggested a @DISEASE$ type II and in which subsequent molecular analysis verified the diagnosis by identifying a de novo @PHENOTYPICFEATURE$ in the FGFR2 gene.	false
+71f2e0941e7ef2a85fb11578a113d4f01ede2b0a	Richner-Hanhart syndrome (@DISEASE$ type 2) is an inborn error of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including @PHENOTYPICFEATURE$ and keratosis palmoplantaris.	false
+4b5e1dd64f29eb8d574a488dfec47aef66d934c8	The clinical presentation and biopsy findings were held to be indicative of @DISEASE$/malignant atrophic papulosis (MAP) but with unusual clinical features including @PHENOTYPICFEATURE$ and severe respiratory insufficiency.	false
+09562976df672e4b33f992759d242238f5ca4823	The clinical presentation and biopsy findings were held to be indicative of Degos disease/@DISEASE$ (MAP) but with unusual clinical features including @PHENOTYPICFEATURE$ and severe respiratory insufficiency.	false
+66d12a66505f7d96c7a28945f3ed14a2564415d1	Additional immune-mediated conditions, such as diverticulitis, bowel-associated dermatosis-@PHENOTYPICFEATURE$ syndrome, Henoch-Sch?nlein purpura, dermatitis herpetiformis, and @DISEASE$, in which the skin and GI system are mutually involved, will also be discussed.	false
+54b64e6f837a61f703e2f755e2f55e82f0892c5d	@DISEASE$ is a rare disorder characterized by systemic @PHENOTYPICFEATURE$ involving various organs.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+d54f51210fb4dac3ad2d79f8f8d303aae5494415	The core of MCTD is an appearance of symptoms of several other inflammatory diseases of connective tissue - systemic lupus erythematosus, systemic @PHENOTYPICFEATURE$, poly- or @DISEASE$, rheumatoid arthritis at the same time, accompanied by a high level of anti-ribonucleoprotein antibodies (anti-U1RNP).	false
+ebdbec252c635d0182301c5ae57fe77b02e50e69	@PHENOTYPICFEATURE$/@DISEASE$ overlap syndrome with anti-centromere and U1 RNP antibodies during chemotherapy for gastric cancer.	false
+9e9616f07720266203eca7f31cd6fdf0b34e71fc	Experience with ASCT for childhood SLE, @PHENOTYPICFEATURE$, or @DISEASE$ is very limited.	false
+6df098c2f3c86958f30ef4dfc561e9de99187633	@PHENOTYPICFEATURE$ and @DISEASE$ were enriched among mono-Ro52 reactive serum samples (34.2% and 10.5% respectively).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0db24f0c9153bb215b04a0539619a685156a2b69	The underlying diseases included mixed CTD (MCTD), systemic @PHENOTYPICFEATURE$, primary Sjogren's syndrome (pSS), systemic lupus erythematosus (SLE), undifferentiated CTD, @DISEASE$ and Behcet disease.	false
+307abc761d8e209a6059f539b3883f420c74382a	The incidence and manifestation forms of lung changes show certain differences dependent on the underlying illness (e.g., rheumatoid arthritis, systemic lupus erythematosus, @PHENOTYPICFEATURE$, @DISEASE$ and polymyositis, Sj?gren syndrome, and mixed connective tissue disease).	false
+24898a9d734f59aa549dccfd375c5be951f239e0	However, in four patients (with @DISEASE$, phosphorylase deficiency, carnitine deficiency, and ocular @PHENOTYPICFEATURE$ with "ragged-red fibers") exercise cardiac output was excessive and delta Q/delta VO2 high, resulting in an abnormally high level of cardiac work for a given level of exercise.	false
+2520c5eb9d134a2454a82a78035e1173a8d2f727	The typical abnormalities are also found in patients with @DISEASE$ and those findings are useful for the assessment of vascular injury and the evaluation of therapeutic effect in patients with @PHENOTYPICFEATURE$ spectrum disorder and dermatomyositis.	false
+f8d0cc899278d12d9da66ca7e6103d835c83f8ac	The typical abnormalities are also found in patients with dermatomyositis and those findings are useful for the assessment of vascular injury and the evaluation of therapeutic effect in patients with @PHENOTYPICFEATURE$ spectrum disorder and @DISEASE$.	false
+7da0a996b321969b9f6b52b95391ddef2b18ba6f	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, @DISEASE$, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+5d16ad4fae82f51a49cf7690a9ec621899be8273	CHANNELOPATHIES ARE RESPONSIBLE: For muscular diseases (myotonia, familial periodic paralysis, @PHENOTYPICFEATURE$ and congenital myasthenia), but also for central nervous system disorders such as @DISEASE$, hereditary paroxystic ataxia and certain forms of Mendel's law hereditary epilepsy.	false
+513ec8f02ba75f8b49f0d303858540b72404aaaa	@PHENOTYPICFEATURE$ in a family with @DISEASE$ persisted, but without marked progression.	false
+7406563a67f36c87dc8ca169a7f9fe3762a4718a	The clinical course of the patient fully complied with the diagnostic criteria of acute encephalitis with refractory, repetitive partial seizures (@DISEASE$), as follows: i) The acute phase of encephalitis lasted >2 weeks; ii) partial seizures accompanied with @PHENOTYPICFEATURE$ occurred throughout the acute and convalescent course; iii) frequent seizures, a number of which resulted in a sustained state, were more prominent in the acute phase; iv) seizures were difficult to control; and v) known viral encephalitis and systemic metabolic disorders were excluded from the diagnosis.	false
+47cdc076f297be00cf9bcbcbff19ba2e6f19045c	@DISEASE$ represent a disorder with the onset of frequent @PHENOTYPICFEATURE$ during the first weeks of life.	false
+0a952c52925a2132dbc50814b781ce4bf6035c00	Seizure manifestations and ictal electroencephalography indicated that she had not experienced @PHENOTYPICFEATURE$ but partial seizures, although international classifications of epilepsy define @DISEASE$ as generalized epilepsy.	false
+8ebff07c65609ebbf2235c4a07cb82b030741a32	A @PHENOTYPICFEATURE$ disorder with caudate atrophy in CT and MRI has been reported in @DISEASE$ later in the course of the disease.	false
+367f356af323b2ce30c5db3dae53310465596d2b	The core NA syndromes include autosomal recessive chorea-acanthocytosis and @DISEASE$ which have a Huntington's disease-like phenotype consisting of a @PHENOTYPICFEATURE$ disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy.	false
+02511d6789138227694480996de1740985cc767c	The @DISEASE$ belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a @PHENOTYPICFEATURE$ disorder, cognitive alterations, and psychiatric symptoms.	false
+08980943f500f56e520a950e6c5db5bc6b4ae395	@DISEASE$ is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, @PHENOTYPICFEATURE$, psychiatric disturbances, seizures, and sensorimotor axonal polyneuropathy.	false
+24cb0592e09caf13881644560a4157699fa75cd6	An 82-year old, elderly woman who had been found to have myelodysplastic syndrome (MDS)-@DISEASE$ three years previously, complained of fever and @PHENOTYPICFEATURE$, and was hospitalized.	false
+54f2986c2e4d1f622e246666dab02fbbe2ab8b7d	The disease course was severe with diarrhea, @PHENOTYPICFEATURE$, inanition, @DISEASE$, rectal bleeding, hypoalbuminemia, and exudative enteropathy.	false
+9b23ae3794da6a9a69259a93be55f4937324fb44	We describe an ultrasound antenatal diagnosis of the @DISEASE$ with @PHENOTYPICFEATURE$ during the first trimester of pregnancy.	false
+fb9e46d9c4f0b149e9ca84d4567bc076a65651a4	SCM can be associated with other spinal abnormalities such as @PHENOTYPICFEATURE$, Arnold-Chiari malformation, hemivertebra, butterfly vertebra, or kyphoscoliosis and also can be seen as part of @DISEASE$.	false
+3bc7e3eb8e6bdbe446db3c2e7d1d89ef02b431ff	Sclerotic fibroma (SF) is an uncommon, benign fibrous neoplasm that may present either as a sporadic, small, solitary cutaneous mass, in otherwise healthy individuals, or as solitary or multiple, discrete @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+b9c9e7cbf174c9294f9d7b21d8d051714d9bbe7d	Other entities are symmetrical gingival fibromatosis; Zimmermann-Laband syndrome with bone, ear, nose and nail defects and hepatosplenomegaly; Murray syndrome with multiple hyaline dermal tumors; Rutherfurd syndrome with corneal dystrophy; @DISEASE$ with hypertrichosis, oligophrenia and giant fibroadenomatosis of breasts and Cross syndrome of @PHENOTYPICFEATURE$, oligophrenia and athetosis.	false
+ea5d08bb7bad162676c1c71acb09957de67364d6	Several external and visceral malformations and variations such as domed head, bent tail, abdominal @PHENOTYPICFEATURE$, and @DISEASE$ were observed in all 3 species.	false
+6fc1c95d73ad6c1445451b6bd68e1ca84b2b07cd	Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, @PHENOTYPICFEATURE$, facial dysmorphism, ambiguous genitalia, @DISEASE$, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities.	false
+ed23ecd249046340d98bde979be39aa2db8b2856	Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (@DISEASE$) and split hand-foot malformation (SHFM) dysplasias.	false
+0641d15d429858779890410b119e6e8dc3dcda37	Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), @DISEASE$ (LMS) and split hand-foot malformation (SHFM) dysplasias.	false
+81b306fa97757e7150b01e1d08b3730d1afebe01	p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (@PHENOTYPICFEATURE$-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in @DISEASE$ syndrome and in ADULT syndrome (acro-dermato-ungual-lacrimal-tooth syndrome).	false
+8944c80928072218f01c8e8bf7a5c8a4ab067e86	Since patients with the NF1 large-deletion syndrome have a significantly increased risk of @DISEASE$ development and @PHENOTYPICFEATURE$, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA272195 (centaurin-alpha2), NF1, OMGP, EVI2A, EVI2B, WI-9521, HSA272196, HCA66, KIAA0160, and WI-12393) may contribute to the severe phenotype of these patients.	false
+380a629c14b8c29d47ac81d9b1e0a8fd76297c0b	Diverse pathologic processes can occur within this region, including benign tumors (lipoma, @DISEASE$, lymphangioma), malignant tumors (sarcoma, neuroblastoma, metastases), @PHENOTYPICFEATURE$ (aortic aneurysm, hematoma, azygos and hemiazygos continuation of the inferior vena cava), and abscesses.	false
+d95ca59095b92a4fa386eb2a6942bfd5d4266cb5	Other motives included: first-degree relative with NF1, cutaneous @DISEASE$, plexiform neurofibroma, tibia's pseudarthrosis, headaches, @PHENOTYPICFEATURE$, failure to thrive and learning disabilities.	false
+4513a401293ba0af9d3eea71d8f2f0969a65cf92	Clinical features included macroglossia, @DISEASE$, cutaneous @PHENOTYPICFEATURE$ and carpal-tunnel syndrome.	false
+406869ea463ebd66b91f533b99f27201167daa89	The clinical manifestations of cardiac amyloidosis may include @DISEASE$, characterized by progressive diastolic and eventually systolic bi-ventricular dysfunction; @PHENOTYPICFEATURE$; and conduction defects.	false
+ffab3d7bf668bea8ec05d7aacd9256437c1741a1	Acute fatal @DISEASE$ was characterized with extreme sensitivity to volume overload, myocardial @PHENOTYPICFEATURE$ and a rapidly fatal course.	false
+177a9f2a1e81a4ad465fe727a5ea633b80bea03a	@PHENOTYPICFEATURE$, characteristic of true @DISEASE$, was absent.	false
+ba5cb0a47888562c0381a9741a5ed323fe64c84f	As a hallmark for glioblastoma (GBM), high @PHENOTYPICFEATURE$ causes a variety of phenotypes and therapeutic responses among @DISEASE$ patients, and it contributes to treatment failure.	false
+fd3fcc12134cbe4071061329d55ef899f37674cd	As a hallmark for @DISEASE$ (GBM), high @PHENOTYPICFEATURE$ causes a variety of phenotypes and therapeutic responses among GBM patients, and it contributes to treatment failure.	false
+39ca3f3d48aa99e6f0b2aaa823e068d69c63c92d	Here, we review current knowledge on recurrent glioblastoma and ask whether and how therapies change intra-tumor @PHENOTYPICFEATURE$, molecular traits and growth pattern of @DISEASE$, and to which extent this information can be exploited for therapeutic decision-making.	false
+69f66f4cd994cde05d030d49d180fc45340420c0	Here, we review current knowledge on recurrent @DISEASE$ and ask whether and how therapies change intra-tumor @PHENOTYPICFEATURE$, molecular traits and growth pattern of glioblastoma, and to which extent this information can be exploited for therapeutic decision-making.	false
+616d1108166d5ec6f0c8b530732b58ddf3c601b7	In case 1, a 71-year-old patient with a history of sphenoid wing meningioma presented with headache, @PHENOTYPICFEATURE$ and was found to have a mass with meningioma and @DISEASE$ (GBM) characteristics.	false
+a83a3c8d86c640f51ae3770ebea386908f854cb6	Significant increases in levels of protease bands at M(r) 92,000, 123,000, and 240,000 were observed in @DISEASE$ and metastatic @PHENOTYPICFEATURE$.	false
+970fb3ddd91bfb4e2b99f8b9d01a8d343c9d86a6	Genomic @PHENOTYPICFEATURE$ is characteristic of @DISEASE$ (GBM).	false
+d5d510c11986085b78cdfd85235faa135d79e6ba	A glioma can develop into a very aggressive tumor, the @DISEASE$ (GBM), characterized by a highly @PHENOTYPICFEATURE$ cell population (including tumor stem cells), extensive proliferation and migration.	false
+73db42cd3f547396613708766ca3cc22caf8640b	Authors report a rare case of supratentorial @DISEASE$ in a 13-year-old boy, who had headache, @PHENOTYPICFEATURE$ and left sided hemiparesis for last 6 months.	false
+b76f282ae95868072d5a76d3d7ff98aa36616211	In summary, these results identify a functional role for SOX1 in regulating glioma cell @PHENOTYPICFEATURE$ and plasticity, and suggest SOX1 as a potential target in the GSC population in @DISEASE$.	false
+f5fd657ed3c91eb9692cb9fdd8c4780ef6f5b361	For many @DISEASE$ patients, @PHENOTYPICFEATURE$ are part of the disease process.	false
+6269d2d1d5a8571e2e044d2ff05cdb88bb43508c	A 28-year-old woman with a history of brain metastasis from spinal cord @DISEASE$ presented with several @PHENOTYPICFEATURE$ without restored consciousness.	false
+8586477fd9b5c25b0c23c05fa777b277d5ecd86a	The @DISEASE$ (22q11.2DS) is associated with very high rates of schizophrenia-like psychosis and @PHENOTYPICFEATURE$.	false
+df65729f18f7fb25cca9f3be3d3d8bcb882361a3	A five-year-old girl diagnosed with @DISEASE$ and a prolonged primary VZV infection was admitted due to abdominal pain, increasing diarrhoea, @PHENOTYPICFEATURE$, and poor general condition.	false
+a909f3ea12670af7919d23652364ddf76b343b51	This article presents the case of a 32-year-old woman who was diagnosed with @DISEASE$ after a @PHENOTYPICFEATURE$ due to hypocalcaemia.	false
+0c2faf1d4d106b3eff6085b025733c1586b577c0	The phenotype of patients is extremely variable, ranging from multiple defects to mild learning difficulties, sharing features with @DISEASE$/VCFS, including heart defects, @PHENOTYPICFEATURE$, velopharyngeal insufficiency with or without cleft palate, and with some individuals being essentially normal.	false
+391459c693153973d85221340e79dd47934a54ad	One brother had findings suggestive of @DISEASE$, while the other had milder anomalies, including @PHENOTYPICFEATURE$.	false
+47e83924ffa18ded357e839c49f9201be3571e73	@DISEASE$ may be of focus to a psychiatrist as it is associated with @PHENOTYPICFEATURE$, high rates of schizophrenia and anxiety disorders.	false
+c8eb56b3b36489bfb42150c2a0d24ea11afaa20e	The @DISEASE$ (22q11DS) is associated with increased rates of psychotic disorders and @PHENOTYPICFEATURE$, but large scale studies are needed to elucidate their interaction.	false
+be757869ad654fb31c9b0809f333e1e375db9a26	Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (@DISEASE$/VCFS), including heart defects, @PHENOTYPICFEATURE$ and velopharyngeal insufficiency.	false
+6b848b0c131ac1c2977b3332686b84e06a3908b5	An NVC of the cochleovestibular nerve might cause tinnitus and/or @PHENOTYPICFEATURE$; however, general acceptance of @DISEASE$ for this indication is lacking.	false
+7915eca4d8b4918963201dc40f9bb922f20c28e4	We investigated if sKlotho levels are decreased in type 2 diabetes and associate with @DISEASE$ in the absence of diabetic nephropathy, and whether @PHENOTYPICFEATURE$ affects renal Klotho production in vitro and in vivo.	false
+c61a5f7fecb9219a2533e23526d7c9f9656b15da	@DISEASE$ patients were older and more often had diabetes, @PHENOTYPICFEATURE$, hypertension, prior stroke, and prior MI.	false
+c2a3b1e92c93ac1ec22fd995ec5a5db319bc5419	The immediate effect of @DISEASE$ was observed in 22 patients with tinnitus and 10 patients with @PHENOTYPICFEATURE$.	false
+422b3f6e3a71f90e85ed3ab3678a237219da0b33	MVD is also an effective treatment for glossopharyngeal neuralgia (GPN), and recently @DISEASE$ has been shown to be an effective treatment for particular types of vertigo (disabling positional @PHENOTYPICFEATURE$, DPV) and certain types of tinnitus.	false
+04926bee3bd14f6fe76e482be06f5d68fc9e4502	@DISEASE$ is also an effective treatment for glossopharyngeal neuralgia (GPN), and recently MVD has been shown to be an effective treatment for particular types of vertigo (disabling positional @PHENOTYPICFEATURE$, DPV) and certain types of tinnitus.	false
+3ffcfe41fff16bc8b4d6f68dfffd38d16ff90ace	@DISEASE$ may be a safe and effective surgical procedure for treatment of severe tinnitus and/or @PHENOTYPICFEATURE$ in patients.	false
+ed211dd35f372c44a56fe791f141346ff295ddf3	In 28% of patients with tinnitus and 32% of patients with @PHENOTYPICFEATURE$, complete relief following @DISEASE$ was reported.	false
+6c852c06ddf6b09bff4692e124015dc92ca13275	The prevalence of coronary artery disease, hypertension, @PHENOTYPICFEATURE$, type 2 diabetes mellitus, and @DISEASE$ did not differ between patient subgroups.	false
+26820aadbe359b2d06790a25138cccea37a10fad	This report describes a patient with @DISEASE$ (NLE) in whom there was multisystem involvement including neonatal @PHENOTYPICFEATURE$.	false
+668894496ff484db32da26193b3d46b723f515cc	This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich @PHENOTYPICFEATURE$ (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and @DISEASE$ (1/100,000).	false
+ce162d0243f34d36936cb7ffacd49f24eb632b26	@DISEASE$: a clinical and genetic study of a disorder distinct from Friedreich's @PHENOTYPICFEATURE$.	false
+d9816dad7e5c9d23487cb92fe00f47389b27cbbc	There were 2 cases of Friedreich's @PHENOTYPICFEATURE$ (FA), 1 of @DISEASE$ (EOCA), 1 of autosomal dominant cerebellar ataxia (ADCA), 8 of sporadic idiopathic late onset cerebellar ataxias, and 5 of HSP.	false
+4f4f73be1465558915062800bbfa35ba599be922	Depending on whether the muscle stretch reflexes in the legs were positive or negative, two groups were distinguished, that of @DISEASE$ (EOCA) (13 P.) and that of Friedreich's @PHENOTYPICFEATURE$ (FA) (59 P.).	false
+a403d78c8b440e821b20fac16dcc4693e5ff9d73	@DISEASE$ comparison with Friedreich's @PHENOTYPICFEATURE$ and olivopontocerebellar atrophy : an evoked potential study.	false
+c9c7271afe8e4373ff6ffc8b1f79cdd7f63763a8	This case was compared with EOCA (@DISEASE$) and other juvenile onset @PHENOTYPICFEATURE$ and dystonia.	false
+d64339b57deeee4c2a638b424b9ed86267c6b25d	In this article, we aimed to call attention for the diagnosis of @DISEASE$ as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich @PHENOTYPICFEATURE$, and also to perform a clinical spectrum study of this syndrome.	false
+7c4a5e3a67c4842fa62709ab16faf8645d84a89a	Clinical spectrum of @DISEASE$: an autosomal recessive @PHENOTYPICFEATURE$ not to be missed.	false
+1d4d211c527902e859d14c218acc803d993bd6d1	Fourteen patients with the clinical diagnosis of @DISEASE$ (EOCA) were examined and compared with 11 patients with Friedreich's @PHENOTYPICFEATURE$ (FA).	false
+c877c850f8356e720ce8e0e26ee83ee9d0736aee	This prospective study was undertaken to characterize better electrophysiologically the newly described clinical entity of "@DISEASE$ (EOCA)" and compare it with Olivopontocerebellar atrophy (OPCA) and Friedreich's @PHENOTYPICFEATURE$ (FA).	false
+f6ca263b7eafda96926b6c216230f982b25cc26d	After adjustment, five @DISEASE$ were significantly associated with @PHENOTYPICFEATURE$ (OR 0.33-0.65,	false
+9e53c19e1fd12d1e8099f4316c148d5155a935c7	@DISEASE$ @PHENOTYPICFEATURE$ occurred in 2.7% of homeless subjects and in 1.1% of OP (Si); infiltrative TB in 95.5% of HP and in 97.5% of OP (Si).	false
+d2b2a7cc22813dce0f101fd0ed0fb55dc8e498a6	@DISEASE$ @PHENOTYPICFEATURE$ and Tubercle.	false
+08b027ee84f9f1d4ee38fb35ba296c7a0c8d5c53	The objectives of the present study were to assess the association between severe carotid artery stenosis (@DISEASE$) and @PHENOTYPICFEATURE$, frequency of depressive symptoms and status of HRQoL.	false
+255c188eef3aaee0d991cc3f77e9aaa2c7725706	presented cerebral complications: hydrocephalus 20 cases (71.4%), ventriculitis 5 cases (17.9%), abscess and ventriculitis 2 cases (7.1%) and @PHENOTYPICFEATURE$ 1 @DISEASE$ (3.6%).	false
+adf0343d097258379aec312fb531c080845de7df	The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, @PHENOTYPICFEATURE$ or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+5e6f8e42971db93d4ff9d4b96c8bf63eb1b7b3f2	The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, @PHENOTYPICFEATURE$ or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+cc8032f975360e5359897249887664220c21e590	The first signs are gastro intestinal symptoms (recurrent nausea, @PHENOTYPICFEATURE$ or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+d843bf0acd918f0bf32463c174a1c351abc52548	@DISEASE$ @PHENOTYPICFEATURE$ was diagnosed in 8.4% of all patients treated for tuberculosis in 1977, while in 1991 this proportion was 14.5%.	false
+178b0c3555516eca8b6e414a779e9804cf09b2d2	The results of the tests before and after treatment, including the Constipation Assessment Scale (@DISEASE$), @PHENOTYPICFEATURE$, and number of defecations per week, were assessed.	false
+e96801c0a694faac079cadb2c683e31ab6c7aa16	The clinical changes were dynamically compared with those of 50 other patients in another group (including 39 patients with @DISEASE$ @PHENOTYPICFEATURE$), who were treated by small-volume plasmapheresis.	false
+40807e81cdf8990c86623b3ac8974f1cd8065b62	Logistic regression analysis was carried out to examine the associations between the frequency and variety of @DISEASE$ and @PHENOTYPICFEATURE$, adjusted for covariates.	false
+1f47c70a8e47e86c837c8ee16c5904e2cf1ecb00	They include cranial and intracranial manifestations (orbitosphenoid dysplasia, bone defects of the skull, acoustic neuroma, glioma of the optic nerve and chiasm, meningioma), spinal lesions (scoliosis, vertebral scalloping, meningocele, neuroma, @DISEASE$), @PHENOTYPICFEATURE$ (pseudarthrosis), cardiovascular manifestations, pulmonary fibrosis, tumors of the gastrointestinal and urinary tract and different endocrinopathies.	false
+9021cae6fd49d4e700dd8d2d96dc82fad67c7be9	Beh?et's disease associated with a @PHENOTYPICFEATURE$, @DISEASE$, and an immune complex mediated vasculitis.	false
+7da8e111dd4f3b547a65dd901493c76cf03356b4	Aristolochic acids are known for causing @DISEASE$, a @PHENOTYPICFEATURE$ often associated with urothelial carcinoma.	false
+129f68614f71e3d39578f58d9502f74064ce5ad2	@PHENOTYPICFEATURE$ and @DISEASE$: a sheer coincidence, a consequence of long lasting D-penicillamine therapy or a plausible relationship of both diseases?	false
+264876e77e591ca08d91781d02f53043cdc3a280	A 39-year-old male diagnosed as @DISEASE$, had no @PHENOTYPICFEATURE$.	false
+101012d8606829f9601b82584caadf20ffaaef16	We compared telomere length in donor leukemic cells and corresponding established cell lines from three patients with @DISEASE$ (CML) and three with acute lymphoblastic leukemia (ALL) to study the relation between the immortalization capacity of @PHENOTYPICFEATURE$ and telomere length.	false
+e8de8825f1eee4967c0227ff4296533d5f331dcd	Furthermore, the plasma nm23-H1 levels were investigated in 70 patients with other @PHENOTYPICFEATURE$, including 6 with acute lymphoblastic leukemia, 13 with @DISEASE$, and 12 with myelodysplastic syndrome.	false
+e866862e6b60c6e556371b25d395d69a2120ab80	@DISEASE$ (CML) and chronic lymphocytic leukemia (CLL) are two different and common @PHENOTYPICFEATURE$.	false
+5665cd509266f9a648b65cfea658a4e8435ee227	Furthermore, to determine whether we can apply the results observed in AML to other hematologic malignancies, we investigated the relative levels of nm23-H1 and nm23-H2 transcripts in 149 patients with @PHENOTYPICFEATURE$, including 110 with de novo AML, 9 with de novo acute lymphoblastic leukemia, 14 with myelodysplastic syndrome, 16 with @DISEASE$ (CML), and 5 normal subjects by the reverse transcriptase-polymerase chain reaction.	false
+9d76c41caace37508c37a91d9a1d8191498ee990	We describe a 62-year-old woman with @DISEASE$ who developed characteristic features of BD, including a positive skin @PHENOTYPICFEATURE$ test, during treatment with hydroxyurea.	false
+dd80e5e13e90cfc717ac0005aeb84bef47bc2999	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ of the skin of palms and soles.	false
+14d504d521090985b396a14da65b162bb150f914	A recurrent de novo @PHENOTYPICFEATURE$ in TMEM106B causes @DISEASE$.	false
+e325202401e66c628e0ec606cd0da25a562fb71a	ClC-2 molecular role is not clear, and Clcn2 knockout mice develop @PHENOTYPICFEATURE$, sterility, and @DISEASE$ by unknown reasons.	false
+0676e8a838dbace0a7d073af406ada212fbc481b	The 4H syndrome (hypomyelination, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism) is a newly recognized @DISEASE$.	false
+5599f8173672faa1df95033e5bec78f15f28a15b	To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism) @DISEASE$ caused by mutations in POLR3A or POLR3B.	false
+96ddc47c1cfb924ae137afd8cf15344b8a47f799	Complete postmortem examination, including histopathology and electron microscopy, delineated a @DISEASE$ resembling human Canavan's disease, but amino acid and organic acid @PHENOTYPICFEATURE$ were not detected.	false
+0676e8a838dbace0a7d073af406ada212fbc481b	The 4H syndrome (hypomyelination, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism) is a newly recognized @DISEASE$.	false
+94092273b05586bc9fae0913d7e5819ddc4a1123	Canavan disease is an autosomal recessive @DISEASE$ characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and @PHENOTYPICFEATURE$.	false
+6d233ec5b2e6aa37a24fa1e52a80dc26a993e425	These pathologies include neurodegeneration, @DISEASE$, mental retardation, deafness, @PHENOTYPICFEATURE$, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and osteopetrosis.	false
+625eb207a604526933b6470496697ce61478951c	These, along with five other disorders, including @DISEASE$ with polyol @PHENOTYPICFEATURE$, demonstrate that an increasing number of protein and metabolic abnormalities can cause primary myelin disorders.	false
+ae1d6c0dc95df47e4082f0cc79062ce245673517	POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with @DISEASE$ disease, also known as 4H syndrome, characterized by congenital Hypomyelination with thinning of the corpus callosum, @PHENOTYPICFEATURE$ and Hypogonadotropic Hypogonadism.	false
+e4e5f499dcdccfc68e98cf43f13baa17874ad9cf	@DISEASE$ (FD) patients suffer from multiple fractures and have reduced @PHENOTYPICFEATURE$, which defers the diagnosis.	false
+258e68ace560afed42a0fe2e7e90a0507102b57c	We reviewed the charts of all patients with @DISEASE$ (n = 631) and found that 2% had been diagnosed with @PHENOTYPICFEATURE$.	false
+6a1736ecd33d98ca263321fd138ec6f4680919f6	Inactivating mutations in GC-B cause @DISEASE$ type Maroteaux dwarfism and chromosomal mutations that increase CNP concentrations are associated with Marfanoid-like skeletal @PHENOTYPICFEATURE$.	false
+36310d7a2d6a3b86d336b9f0119a73600071be4f	Loss of function mutations at NPR2 cause @DISEASE$, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain-of-function mutation at NPR2 have been reported to be responsible for an @PHENOTYPICFEATURE$ syndrome in three cases and one family, respectively.	false
+74b133637a1ace7cd8b99696efd6d4d68b8241c2	Anesthesia for a patient of @DISEASE$ with associated @PHENOTYPICFEATURE$, Arnold Chiari malformation and syringomyelia.	false
+9d00da3cfd4900abbe74bf8260fcbbe056474814	Single allele-inactivating mutations in the promoter of human NPR-A are associated with hypertension and @PHENOTYPICFEATURE$, whereas homozygous inactivating mutations in human NPR-B cause a form of short-limbed dwarfism known as @DISEASE$ type Maroteaux.	false
+9f8e90ef19924f66a304a49bdbea7217096ef643	Three had global developmental regression, 6 movement disorders, 4 dysarthria, 3 @PHENOTYPICFEATURE$, 1 @DISEASE$, 1 painful red feet, 2 insomnia, 2 gastrointestinal dysmotility, and 2 small fiber neuropathy.	false
+63b320e51053dda579a370441401c437e66ad5df	CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, @PHENOTYPICFEATURE$, congenital heart disease, and a predisposition for cancer, most commonly @DISEASE$ (ERMS).	false
+f086ddbaf95b5e80f6d57e0afefc824cac910b0b	The second group includes neoplastic diseases as acute leukemia, non-Hodgkin lymphoma, and Hodgkin's lymphoma with myelofibrosis, malignant histiocytosis and non-@PHENOTYPICFEATURE$, like the neuroblastoma and the @DISEASE$.	false
+eeb114810552c8b0ebdcea4616babf304cb83665	PDKs are pharmacological targets for several human diseases including cancer, diabetes, obesity, @PHENOTYPICFEATURE$, and inherited @DISEASE$ deficiency.	false
+74e071f5010191d5f8ffdadbe76a79b0a898a7d1	PDKs are pharmacological targets for several human diseases including cancer, diabetes, @PHENOTYPICFEATURE$, heart failure, and inherited @DISEASE$ deficiency.	false
+cdebd5b3e09bc22dcab129cd5e746a7cd1e7ab70	We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (@DISEASE$) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual disability speech delay, @PHENOTYPICFEATURE$, and growth retardation.	false
+c947694a0998c7b15980dc0152afe94820c96931	Adaptor protein complex-4 (@DISEASE$) deficiency causes a novel autosomal recessive cerebral palsy syndrome with @PHENOTYPICFEATURE$ and intellectual disability.	false
+510c1849d7a7efbca46ce442cb013f09210e99f2	[Akinetic mutism and @DISEASE$-like syndrome after the shunt of an obstructive @PHENOTYPICFEATURE$.	false
+b6bda9102efd543f85c750c1c296d071f07b1f1e	Thyroid-related symptoms are sometimes comparable to physiological manifestations of the aging process, and hypothyroidism may be related with many symptoms which can be present in critical patients, such as @PHENOTYPICFEATURE$, cardiovascular, gastrointestinal, and hematological alterations, and eventually @DISEASE$ coma which is a severe and life-threatening condition in older adults.	false
+e0b62d8ffcb45cbd7af0ae28429ac534884578ab	At this point, we feel reasonable to consider this family as expressing a "new" syndrome related but different from @DISEASE$, associating @PHENOTYPICFEATURE$ and abdominal wall defect, and compatible with dominant inheritance with variable expressivity, although recessively inherited omphalocele occurring in a family showing independently some dominant craniofacial peculiarities cannot be ruled out.	false
+06141db8989b91407c9621a9a90eb474144611b9	@PHENOTYPICFEATURE$, brachydactyly, and @DISEASE$ (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.	false
+b7d0debc5e5c9723b0b861e3cd69c8f1d293d7e5	Peters'-Plus syndrome is a disorder in which patients with @DISEASE$ are also found to have @PHENOTYPICFEATURE$, brachymedia, abnormal ears, cleft lip and palate, and mental retardation.	false
+346c4b6b560bd4f2115dda79fc82bce03789d608	@DISEASE$ is a rare developmental @PHENOTYPICFEATURE$ and is one of the main causes of congenital corneal opacities.	false
+4dfe662153dd1f5457aec5cdad5d5ae17b50f8a1	Two sibs with a phenotype characterised by @PHENOTYPICFEATURE$, brachydactyly, and ocular anomalies (@DISEASE$) are reported (Peters'-plus syndrome).	false
+c0e64896415370037a95d66a3c861752b214b8f5	Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly @DISEASE$), @PHENOTYPICFEATURE$, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+4970b04d25c6b967eb214322c51a82cec915fe23	'Kivlin' syndrome is a similar disorder involving @DISEASE$, @PHENOTYPICFEATURE$, short limbs, delayed development, facial clefting in some, ear abnormalities and a characteristic facial appearance attributable mainly to a 'cupid's bow' shape of the upper lip.	false
+3a11362fdc91885bd753c9d5d1cec81c38c073f6	Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with @DISEASE$, @PHENOTYPICFEATURE$, disproportionate short stature, retarded skeletal maturation, and a variable degree of mental retardation.	false
+e16a100b6b18e9e7098f4d139252a8d8dfcffb03	The authors present 11 patients with @DISEASE$, @PHENOTYPICFEATURE$, brachymorphy, mental retardation, abnormal ears and cheilo(gnatho)palatoschisis.	false
+7db63d32915485da97007145b963e255632e82ec	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+8dead7bcd58aca34e2441991fdab43be3e83822c	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+7573ba49c5c68254637d48d42043577ed871bf28	Manifestations of Peters'-Plus syndrome include @DISEASE$, @PHENOTYPICFEATURE$, small hands, mental retardation, abnormal ears and cleft lip and palate.	false
+5b29d58a8d7097c0f8474eb3df7ed2c83a38209a	To characterise the phenotype and identify the underlying genetic defect in a family with @PHENOTYPICFEATURE$ segregating with a North Carolina-like macular dystrophy (@DISEASE$).	false
+cf3b822d7c21c23c6a8c3138327827be98b32ae6	Of the 13 disorders, 6 (prehypertension, general @PHENOTYPICFEATURE$, @DISEASE$, diabetes mellitus, and irritable bowel syndrome [IBS]) had a significantly different prevalence by SCT.	false
+bc9bdd26fa9c9d4139906c0a2383bf8a85307a72	This cross-sectional study included 192 cases in which the evaluated CVD risk factors were hypertension, diabetes mellitus, impaired fasting glucose, @PHENOTYPICFEATURE$, overweight, @DISEASE$, and dyslipidemia.	false
+6fa81843dda11eb848aced1b0b5eede9d3f9dc28	Increased EMPs may be defined in several cardiovascular diseases, such as stable and unstable coronary artery disease, acute and @PHENOTYPICFEATURE$, hypertension, arrhythmias, thromboembolism, asymptomatic atherosclerosis as well as renal failure, metabolic disorders (including type two diabetes mellitus, @DISEASE$, insulin resistance) and dyslipidemia.	false
+14fab8a32f470a1106699e53d9877ae836eb6713	In this report, the cervical syringomyelia in these cats may have been due to formation of a secondary syrinx (enlargement of the central canal) as a result of blockage of flow in the outlet of the fourth ventricle caused by @DISEASE$ encephalomyelitis or secondary cerebellar tonsillar herniation caused by increased intracranial pressure due to intracranial masses or may have been due to caudal compression of the cerebellum caused by increased intracranial pressure due to @PHENOTYPICFEATURE$.	false
+9a7bc16272d37bc210a70665b3891583350b1d29	This study aimed to clarify the characteristics of acute encephalopathic episodes in patients with congenital adrenal hyperplasia (@DISEASE$), which we termed "CAH-associated @PHENOTYPICFEATURE$ (CAHE)."	false
+265afcafd217e9dabd8cbfb0c1845ba2c474baa0	This study aimed to clarify the characteristics of acute encephalopathic episodes in patients with @DISEASE$ (CAH), which we termed "CAH-associated @PHENOTYPICFEATURE$ (CAHE)."	false
+ca68c0d76e7a0e76c12882db88640a0d96878ce5	@DISEASE$ presenting as nonepileptic @PHENOTYPICFEATURE$.	false
+5de5f80c8a7cf6796a6b96dff10b49be2a76459b	She had @PHENOTYPICFEATURE$ due to @DISEASE$ with 21-hydroxylase deficiency.	false
+4c68a56175349e56ea57ab3ca9679241fd8ec45c	We describe @PHENOTYPICFEATURE$ and neuropsychological outcome obtained after @DISEASE$ in patients with TLE and normal MRI evaluated in the modern imaging era.	false
+d016b5d884e9a93fe6d3829839ce35c3dc819a19	Corticoamygdalohippocampectomy (@DISEASE$) improves @PHENOTYPICFEATURE$ control, quality of life, and decreases mortality for refractory mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS).	false
+009e3b5998980d95c94d85e6cafbc4d04a5179d6	After an extensive evaluation we eliminated precocious puberty, hypothyroidism, @DISEASE$, X-linked @PHENOTYPICFEATURE$ and bilateral malignant testicular neoplasms from consideration.	false
+8c5da6ee617159dd6d490db5b6f1bcb201b083ad	We investigated @PHENOTYPICFEATURE$ in 22 children with congenital adrenal hyperplasia (@DISEASE$), eight of whom had seizures associated with fever.	false
+1933664ebe4e14d03269dd43a1937e9cf2bbeb85	We investigated seizures in 22 children with @DISEASE$ (CAH), eight of whom had @PHENOTYPICFEATURE$ associated with fever.	false
+a509c3a83df9d5d2a3e85e96cdd56925a76d72f5	We investigated @PHENOTYPICFEATURE$ in 22 children with @DISEASE$ (CAH), eight of whom had seizures associated with fever.	false
+96d5f4ffe88500b92e6475696c56ca468cfebbf7	We investigated seizures in 22 children with congenital adrenal hyperplasia (@DISEASE$), eight of whom had @PHENOTYPICFEATURE$ associated with fever.	false
+cac58cf1761bec0a9aadf6ce95769095316aeb30	In adults with @DISEASE$, dexamethasone use was associated with lower androgens but greater insulin resistance, and increasing glucocorticoid dose associated with @PHENOTYPICFEATURE$, poor disease control and mutation severity.	false
+946dad5bf4657c6d69decbe57d437909ed0e858c	A shorter isovolumetric relaxation time in patients with @DISEASE$ may be a sign of mild @PHENOTYPICFEATURE$.	false
+74be351445e48b0fd2bfa3c827d5240e6887e837	Unlike in patients with @DISEASE$, the presence of IEDs after SAH was not a predictor of @PHENOTYPICFEATURE$ recurrence.	false
+acbabc09ceda6386a6639f47c38cbb25393f6b53	IARS2 mutations are reported to cause @DISEASE$ or cataracts, growth hormone deficiency, @PHENOTYPICFEATURE$, sensorineural hearing loss, and skeletal dysphasia syndrome (CAGSSS).	false
+c6e2a73e24f35d14930f72400c9b8ff8ef93b1e6	In our previously published study, we cared for 165 thiamine deficient @DISEASE$ (LS) patients who presented in acute life threatening conditions with severe @PHENOTYPICFEATURE$.	false
+18cfc944ca450be82e74a5663de60f708c2cbe56	Other problems included hypotonia, hypoglycaemia, @PHENOTYPICFEATURE$ (including @DISEASE$) and cataracts.	false
+c63c9a69c4016db2172caa539e2add9e6f3e2a78	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, @DISEASE$ @PHENOTYPICFEATURE$, and sporadic colorectal cancers from TCGA.	false
+a26f25e8504f354cf1a3db1ef4994fb38695b3f9	The large family of a 21-year-old man who died of @DISEASE$ was investigated for evidence of @PHENOTYPICFEATURE$ and presence of the adenosine triphosphate-thiamine diphosphate phosphoryltransferase inhibitor factor.	false
+4120cb09773e45b482ae91c05d66f7ba9e67cdab	The more profound @PHENOTYPICFEATURE$ include @DISEASE$, spinocerebellar degeneration, and atypical Charcot-Marie-Tooth disease.	false
+52a4aae60eb36239db3b9733cf84a1ff7c3d9de7	There were 5 @PHENOTYPICFEATURE$, 1 esthesioneuroblastoma, 1 chondrosarcoma, 1 lymphoma, 1 craniopharyngioma, 1 @DISEASE$, 4 meningioma, 1 schwannoma, and 2 metastatic carcinoma.	false
+dfd168ee879823e925fa84f6cd88b5a145ea32ac	Brachyury: a diagnostic marker for the differential diagnosis of @PHENOTYPICFEATURE$ and @DISEASE$ versus neoplastic histological mimickers.	false
+29ba8e476abebedaeec94589fba4bc0b3843d110	[G?lineau's syndrome and @PHENOTYPICFEATURE$ @DISEASE$].	false
+66253e05a9574f0314051ae550c09b05a7318b16	The report of a collision tumor of intracranial @PHENOTYPICFEATURE$ and @DISEASE$ is not found in the previous literature.	false
+17dbd20a37c5714aeb84a85d70530bdecd52530c	Later, he developed hydrocephalus due to a @PHENOTYPICFEATURE$ @DISEASE$.	false
+5628605cde7ba6b3c4cfd0056cae61e1d55803d5	This is the first report of a purely endoscopic cure of the @PHENOTYPICFEATURE$ @DISEASE$ in a 28-year-old with an unfavourable location of the vascular node in the proximity of brainstem structures.	false
+a78170e35fe0631ba2b072efb83beb43f77e3d17	Immediate magnetic resonance imaging disclosed a large @PHENOTYPICFEATURE$ from @DISEASE$ causing cerebellar tonsillar herniation.	false
+7bae973358683fdbc74893c4ad574befa58cc5dc	Microscopic examination of the specimen which was obtained at the time of the second operation in February 9, 1973, disclosed a coexistence (collision) of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f4be8726a3edd8f514a6218e63fdcab73848b71b	Mutations in SH3PXD2B cause @DISEASE$, a rare condition characterized by congenital glaucoma, as well as craniofacial, skeletal, and @PHENOTYPICFEATURE$.	false
+6e01d73f7a454f9d405c413fe29e2a375e42a407	@DISEASE$ is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, @PHENOTYPICFEATURE$, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia.	false
+bfea034d604115196378beffa45b70b8c8c29c3a	@DISEASE$ (FTHS), Winchester syndrome (WS), and multicentric osteolysis, nodulosis, and arthropathy (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and @PHENOTYPICFEATURE$, and dermal fibrosis.	false
+a128b276cf2c563a682f792882b805519165d74a	Massive @DISEASE$-like @PHENOTYPICFEATURE$ after retinal detachment.	false
+dbae917710f68f56acbea35a71282af9ccae08fc	We report two children with bilateral @DISEASE$ associated with @PHENOTYPICFEATURE$ in the basal ganglia and deep white matter, asymptomatic at the time of their discovery.	false
+f354454dbc34a992bb557fcc631c1f3eb2a5204b	To describe two patients with peripheral @DISEASE$-like @PHENOTYPICFEATURE$ reaction years after surgical repair for rhegmatogenous retinal detachment.	false
+b96911367445ea1dfb48cfa5564b21c1185c3c8e	Bilateral @DISEASE$ in children should prompt systematic CT scan in search of @PHENOTYPICFEATURE$.	false
+4d472fc938fabd5acfac63a558b549515a6fe89e	The patient was diagnosed with malignant phase hypertension based on the presence of marked hypertension with left ventricular hypertrophy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1b0ae9478d1fe8aeb453ebbe02c2062ebfa4430d	These findings may be related to a @DISEASE$-like vascular response (telangiectatic vessels and vasoproliferative @PHENOTYPICFEATURE$) secondary to chronic inflammation.	false
+156cc0db8892ebfb5215cdc21b0e86ae56b876cc	The association of @DISEASE$ with intrauterine growth retardation, @PHENOTYPICFEATURE$, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1.	false
+bc79408feff8a9c043bee7c80d19d7712a344c86	In 1988 we reported two sisters with bilateral @DISEASE$, sparse hair, dystrophic nails, and primeval splashes of @PHENOTYPICFEATURE$.	false
+688a2602f666fbfe3fc2716676d729e6b5605a26	Coats' plus: a progressive familial syndrome of bilateral @DISEASE$, characteristic @PHENOTYPICFEATURE$, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.	false
+522d5a4c427e08aa5e30492b7cfcb8a6ab48248d	Ultrasonography showed no evidence of intraocular @PHENOTYPICFEATURE$ in the right eye and a clinical diagnosis of bilateral @DISEASE$ was made.	false
+7881eb3eb00b7a83cdd05513b36c3ab1356395b4	@DISEASE$ (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, @PHENOTYPICFEATURE$, and cardiac defects.	false
+34b674f2ae783e2de3f63af6829632b3e39fcb2f	Grade 2 toxicities included fatigue, constipation, anemia, hand-foot @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5bf327cc3c1b0c26fa03f89aab5b356970be6982	@DISEASE$ (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, @PHENOTYPICFEATURE$, opisthotonus, camptodactyly, and typical facial features.	false
+714a7b5329daa3b2b7f7bc3f74f86b9cc803e49c	The @DISEASE$ is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, @PHENOTYPICFEATURE$, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long philtrum).	false
+79652a7b4314910508a9d8fab82efcd034c1a396	Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is most often characterized by multiple lentigines and cardiac conduction defects.	false
+3f30aac8e58e0f02218c6b159ed2df9dbf75df02	@PHENOTYPICFEATURE$ represent a major clinical burden in patients affected by the lysosomal storage disorder @DISEASE$ (MPSII, OMIM #309900).	false
+86bc0b34e0abd969b0b8ec4b3cca77735fde30a7	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+e2d5b0dac5fc2e22ef41dc11d2410e830a2291fe	@DISEASE$ (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and @PHENOTYPICFEATURE$, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase).	false
+3d002eefb076ed4174303e96a7422b209b661544	@DISEASE$ (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to @PHENOTYPICFEATURE$ as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea.	false
+3a753b3990ec2c7ca30f2d6eaaafdfb51ad250e4	Subdural hematomas or effusions with profound @PHENOTYPICFEATURE$ was found in Alpers disease and @DISEASE$.	false
+bf2b9b00c9d991b3f469b8a65e8b8a38c105cc66	Patients with @DISEASE$ exhibit a high prevalence of several ocular findings, including some (very @PHENOTYPICFEATURE$, myopia, strabismus) that may warrant special care.	false
+d37ce289ff8cfca945b79ba9c5e1324d3b4bdd61	Mitochondrial diabetes (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder characterized by a chronic hyperglycemia and is maternally transmitted.	false
+78c9c9aaedd2624f0f1b9d86da885f155f6a86c3	A patient affected by @DISEASE$ presents some @PHENOTYPICFEATURE$, such as enamel defects, delayed eruption and a biconically shaped incisor.	false
+66a3ce170240dbe84864f77e70c0ae9e61c0873c	@PHENOTYPICFEATURE$ in @DISEASE$: Report of two cases.	false
+468ca0c3d93187fe1195312635f5ed71f456dbc0	Although recent findings implicate the major role of GJA1 during cardiac organogenesis, @PHENOTYPICFEATURE$ are infrequently reported in @DISEASE$.	false
+65826c9ee663ecbafe60b1242013929e4bde9a53	A 41-year-old man presented with significant @PHENOTYPICFEATURE$, leading to a diagnosis of @DISEASE$.	false
+23640fcd701ba833af17ee7e119f96fc67a9e6a8	A 35 year old man presented with a 2 month history of hearing and @PHENOTYPICFEATURE$ and was found to have @DISEASE$ (CML) in chronic phase with 700,000 WBC/?L.	false
+23513a3b0ffc3957d4324a0562f0982d9e970c80	This procedure was examined in samples from 3 normal volunteers and 29 patients with acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL), lymphosarcoma cell @PHENOTYPICFEATURE$ (LSCL), blastic phase of @DISEASE$ (CML-BC), or other unclassified leukemias.	false
+19c18f9b2a9275b482be3ede7735ce75de56df00	[Case of pediatric @DISEASE$ with bilateral @PHENOTYPICFEATURE$ onset].	false
+522ed611974fed6e409ae9d55774ca1ec627ad50	Thirty-four patients had early @PHENOTYPICFEATURE$ (acute leukemia or lymphoblastic lymphoma in first remission, @DISEASE$ [CML], or refractory anemia [RA]), and 45 patients had more advanced disease.	false
+bf10b999e25f94be99d328d2f94aedc355e68372	We report a case of bilateral irreversible @PHENOTYPICFEATURE$, in a 19-year-old male patient of @DISEASE$ after 3 months of Imatinib therapy.	false
+8c70d552b85009f19748fdded2a31a6cf37f9c07	We report a case of a 45-year-old man who presented with bilateral hypopyon @PHENOTYPICFEATURE$ and was subsequently diagnosed as having @DISEASE$.	false
+7a46e93a157c25f77fac5342cffc2613833ba24b	A 56-year-old woman with diabetic retinopathy and @DISEASE$ had phacoemulsification @PHENOTYPICFEATURE$ removal and hydrophilic acrylic intraocular lens (IOL) (Akreos MI-60) implantation in both eyes.	false
+0215ae37ce726afd7b11d9db91c7cf1090935a03	@DISEASE$ patients who received CY-TBI had an increased risk of @PHENOTYPICFEATURE$ formation, and patients treated with Bu-CY had an increased risk of irreversible alopecia.	false
+6477360bbfe5207df4f6aaf891c8820713c875ba	Permanent @PHENOTYPICFEATURE$ in a patient with @DISEASE$ secondary to intracranial hemorrhage.	false
+8137d3f5fd84e4f9bec229c1ebdb8fd449d21ed0	The associated @PHENOTYPICFEATURE$ and hypodontia were consistent with the clinical diagnosis of @DISEASE$.	false
+edb0ee3f0081ace22d0249403726499df7a3b5ce	@DISEASE$ is a rare and distinct leukodystrophy characterized by hypomyelination, @PHENOTYPICFEATURE$, and hypodontia.	false
+71f3eb79089471ddb4e71e71a4c8aba8728c027d	Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with @PHENOTYPICFEATURE$ and hypodontia (@DISEASE$).	false
+2d03bb44b4bcee962d419fb1019aac0fc359381d	The @DISEASE$ (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+713a4284e68fb7b4982fed583d8124869179a220	To report a novel clinical and genetic presentation of a patient with @DISEASE$, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and @PHENOTYPICFEATURE$.	false
+2d03bb44b4bcee962d419fb1019aac0fc359381d	The @DISEASE$ (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+b7d3e5703f0ab869cf27cc995cda3452ca505de0	MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of @DISEASE$ (hypomyelination, hypodontia, @PHENOTYPICFEATURE$).	false
+a725d9b173d85c7ee7abebb60add5b587dd98da8	[1] classifying a patient with non-specific white matter abnormalities, cerebellar atrophy, @PHENOTYPICFEATURE$ and absent lower median incisors as @DISEASE$.	false
+240fa96419cd47b8bf76d1b99cfdd6f8ca564c3f	To report one patient with slowly progressive encephalopathy, ataxia, central hypomyelination, hypodontia and @PHENOTYPICFEATURE$, the @DISEASE$.	false
+32368cb3bc2c0c094738497b20467a11d062e08e	A case with central and peripheral hypomyelination with @PHENOTYPICFEATURE$ and hypodontia (@DISEASE$) plus cataract.	false
+d347c5ae286fd9a247132438abc3ae3112364725	@DISEASE$ are described as softer, more compressible, bluish nodules and they occur with less frequency than solitary @PHENOTYPICFEATURE$.	false
+87dcc3962b7935da1e01b82d9d199c6ec4e6795a	The authors report a case of @DISEASE$ of the right hand in a 65-year-old man, its treatment, and a review of the features of this uncommon @PHENOTYPICFEATURE$.	false
+fc8c845c04203c8cad1dcdf8eb3a7d7ddc727a4b	@DISEASE$ are uncommon cutaneous @PHENOTYPICFEATURE$.	false
+c581932876e6c50f3f2bc0bfd14f2e2e5e0fa3f0	While @DISEASE$ in the whole body are thought to represent only 10% of all cases, instances of multiple @PHENOTYPICFEATURE$ in the neck have not yet been reported in the literature.	false
+dd1e923c09eab56c0818038b1bd4d051fc4730c9	We report the case of a 60-year-old man who presented with a lentigo maligna melanoma, which led to the discovery of a malignant endobronchial @PHENOTYPICFEATURE$ and who had noticed the appearance of disseminated @DISEASE$ about 10 years before.	false
+a58dcf2399c7c725d5276d032334a5c1790cb953	In contrast to MTC in the rat and in humans with @DISEASE$, the @PHENOTYPICFEATURE$ in hamsters were not associated with C-cell hyperplasia.	false
+4485b24751406f77065f30168e71fd903b4ea1d1	These include multiple endocrine neoplasia (MEN), familial non-MEN @PHENOTYPICFEATURE$, Von Hippel-Lindau's disease and @DISEASE$, pheochromocytoma and paraganglioma.	false
+ed6442fbe41c5c934f13360348b3869c63479483	Although some patients undergo early prophylactic surgical management, particularly in the setting of @DISEASE$, many develop @PHENOTYPICFEATURE$ later in life.	false
+63b1d778feddd57f7c0158e488ccbcdaabaed6b3	The best characterized @PHENOTYPICFEATURE$ of this type is @DISEASE$.	false
+42b57a9ce87d3a2776bf7435fc0fb87223d4df02	Patients with @DISEASE$ were more frequently associated with neoplastic CCH than sporadic MTC (P < 0.001), were younger (P < 0.001), and had more often bilateral and multifocal @PHENOTYPICFEATURE$ (P < 0.001).	false
+2af4daa7326661a0917b960fa5dd914c3cea3508	Therefore, we attempted to determine whether the @PHENOTYPICFEATURE$ suppressor genes SDHB, SDHC and SDHD are involved in sporadic and @DISEASE$.	false
+0c9e67bb92767e63d2ea2e6e1664ddcbd6c0ef7e	We report a 42-year-old man with hereditary medullary thyroid cancer (multiple endocrine neoplasia, MEN2A/@DISEASE$, FMTC), which was diagnosed at the time of @PHENOTYPICFEATURE$ recurrence.	false
+130734f2fce6f6b3b72ca4c2382fc25e8b30725b	The results indicate that sustentacular cells are commonly found in @DISEASE$ and their presence in any MTC may be regarded as an indirect indicator that the @PHENOTYPICFEATURE$ might be of the familial type.	false
+3c5085d00700f5458996029d88b166536083cd93	Presurgical assessment of the @PHENOTYPICFEATURE$ burden of @DISEASE$ by calcitonin testing.	false
+13c521f920f5f1273651e73086281312d04de060	Of  13 patients treated surgically for @DISEASE$ in whom parathyroid tissue was availabe, the majority showed parathyroid abnormalities (hyperplasia in sis, @PHENOTYPICFEATURE$ in five).	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+b8d8dc4c00463aa5e1bbd7da2c11ae0c7bbae0a5	Fifteen percent of infants with @DISEASE$ (CDH) are born with a coexisting @PHENOTYPICFEATURE$.	false
+4b1bc04658020206159d3218bed2d64483aa655e	46,XY disorders of sex development and @DISEASE$: a case with dysmorphic facies, @PHENOTYPICFEATURE$, bifid thymus, gut malrotation, rhizomelia, and adactyly.	false
+eddffb742bf41f6b1ac1e56a7d3f771129c15752	New onset @DISEASE$ was associated with baseline headache frequency and @PHENOTYPICFEATURE$.	false
+27f9ba8f349bf23a1d8afa0f1dd538ee8a5012e5	Patients with @DISEASE$ (CDH) are known to have associated @PHENOTYPICFEATURE$.	false
+a920e2923a1cba1164864cb835ca18cf375e70cb	Survival is significantly lower in patients with @DISEASE$ and major heart defects compared with patients with minor or no @PHENOTYPICFEATURE$.	false
+1b0c2e57681517bb58f7ea187032c00bf2ee1e6e	Survival is significantly lower in patients with @DISEASE$ and major @PHENOTYPICFEATURE$ compared with patients with minor or no heart defects.	false
+d26f36b1635f090ec357094d05cb500e1eb9c421	Since the introduction of neonatal extracorporeal membrane oxygenation (ECMO) in Canada, the authors have treated three infants with congenital diaphragmatic hernia (CDH) who had serious congenital @PHENOTYPICFEATURE$ (among 26 infants with @DISEASE$ treated with ECMO).	false
+d869892915e54939956143cc8080c8c7097fe948	Since the introduction of neonatal extracorporeal membrane oxygenation (ECMO) in Canada, the authors have treated three infants with @DISEASE$ (CDH) who had serious congenital @PHENOTYPICFEATURE$ (among 26 infants with CDH treated with ECMO).	false
+5bc82147e03977569b344bb522ee7dc77aabb76f	However, the association with minor @PHENOTYPICFEATURE$ and/or structural anomalies did not affect mortality and morbidity of @DISEASE$ patients.	false
+613e5f1350a71ff9845a3e51658917aaee6eabb6	@PHENOTYPICFEATURE$ in patients with congenital diaphragmatic hernia and their prognosis: a report from the @DISEASE$ Study Group.	false
+26171abdd743e521b02a74b953403be37ca331e0	Fetal echocardiography (ECHO) in assessment of structural @PHENOTYPICFEATURE$ in @DISEASE$ patients: Is early postnatal ECHO necessary for ECMO candidacy?	false
+f5590a2e64b8f0efd5a10b103265de50fc0005dd	Ambulatory outpatients suffering from one of the following chronic pain conditions: painful @PHENOTYPICFEATURE$ @DISEASE$ diabetic neuropathy, chronic Low-Back Pain.	false
+75fef6dc1c66a951eb94fcc90f3f3011eba9f46d	The clinical features and visual prognosis after vitrectomy for endophthalmitis which had developed after @PHENOTYPICFEATURE$ surgery were compared in two groups with or without background factors, including malignant tumor, diabetes, oral steroid administration, @DISEASE$, dacryocystitis, and lid closure disturbance.	false
+bbdee5d4453efb02a5cd371c056709128f5f16df	Various diseases have been induced by these agents such as malignancies, severe adult atopic dermatitis, complication of @PHENOTYPICFEATURE$ and retinolysis with atopic dermatitis, skin cancer, male infertility, severe @DISEASE$, and lung fibrosis.	false
+e11ebf09c41d343064ad47d7e92047f5ed9acf6d	Profound @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+918c89da16d5d027b7a4113c0fd86c6381493255	@PHENOTYPICFEATURE$ are common in association with @DISEASE$, specially Systemic Lupus Erythematosus and include anemia, neutropenia, thrombocytopenia with alterations in lymphocyte subpopulations.	false
+161385117483da14d2fd680a3ade7e295ad33e32	No @PHENOTYPICFEATURE$ is known to have been entirely composed of embryoid bodies, the unit upon which the diagnosis of @DISEASE$ is based.	false
+db779ad607eb17861a90992c5732f1a36f7287d1	@DISEASE$, late onset hypocalcaemia, and recurrent @PHENOTYPICFEATURE$.	false
+e10bd2a9cbb78f1623b6edd7548d451685a9c80d	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and @PHENOTYPICFEATURE$ familial tumoral calcinosis; (2) interferonopathies (@DISEASE$); and (3) others, including Keutel syndrome and Gaucher disease type IIIC.	false
+082efc13e586d7abab1d187f24cabc7336fbb2f9	@DISEASE$ is a neurocutaneous disorder characterized by craniofacial nevus sebaceus that fall along embryonic cutaneous lines and tend to be associated with neurological, ocular, skeletal, and @PHENOTYPICFEATURE$.	false
+d4fe8aef35caafbacc08396d37eea0c9f152ac24	This high prevalence of @PHENOTYPICFEATURE$, particularly hypodontia, in children with @DISEASE$ is a novel and clinically important finding.	false
+a5cd4d4728312ece44000fd3a4b3355e7cbd981b	In the differential diagnosis of cervical lymphadenopathy in patients with frequent episodes of @PHENOTYPICFEATURE$, @DISEASE$ should be taken into account.	false
+21d822f872374e2607b8dbec715a42bdfea3cc2f	The transformation of human cells was examined by transfection of cloned oncogenic DNAs derived from the @PHENOTYPICFEATURE$ virus simian virus 40 and from the human bladder carcinoma cell line EJ into diploid fibroblasts derived from foreskin (@DISEASE$ cells).	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+52a7298f950851cf881c05807a2f1a70dcaf5566	Whirlin mutations cause retinal degeneration and hearing loss in @DISEASE$ (USH2) and non-syndromic @PHENOTYPICFEATURE$, DFNB31.	false
+a5e3e38b39fc471c29cf97414222c36990d7dd8e	Usherin is a basement membrane protein encoded by the gene associated with @DISEASE$, the most common @PHENOTYPICFEATURE$/blind disorder.	false
+9480d4140e25589bc8cdbefdc07ee7ff34bbec1a	@DISEASE$ is characterized by partial @PHENOTYPICFEATURE$ and retinal dystrophy that occurs in late adolescence or early adulthood.	false
+dbb41617d69ca8b7a18cccd001cb47c99b848367	@DISEASE$ (MIM: 27601) is an autosomal recessive disorder characterized by moderate to severe @PHENOTYPICFEATURE$ and progressive retinitis pigmentosa.	false
+06daf53647bc7047fe8e18fe2eeb000cbb003b77	Mutations in whirlin cause either @DISEASE$ (USH2), a deafness-blindness disorder, or nonsyndromic @PHENOTYPICFEATURE$.	false
+f2d829cd5fc0ce27121ebad3389f09ed18c719fc	Mutations in whirlin cause either @DISEASE$ (USH2), a @PHENOTYPICFEATURE$-blindness disorder, or nonsyndromic deafness.	false
+80d02591f73b9546b0c3e7626688afcfa8cc7854	WHRN (DFNB31) mutations cause diverse hearing disorders: profound @PHENOTYPICFEATURE$ (DFNB31) or variable hearing loss in @DISEASE$.	false
+bf7967681c19a1e551836932591c421953e04ebe	The results of psychophysical measurements revealed similarities to other conditions involving a sensory type of @PHENOTYPICFEATURE$, such as @DISEASE$ and presbyacusis.	false
+38fa62e9f6bcad102723d661bb8c11c5c5708f50	Whirlin is a gene responsible for @DISEASE$ (USH2) and @PHENOTYPICFEATURE$.	false
+b6baca9f75308ee52d2886eb395c2ec811603b57	@DISEASE$ (USH2A) combines moderate to severe congenital @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+ec5162335118e71bf10effdfbdd0125b5d45a192	@PHENOTYPICFEATURE$ and fibular a/hypoplasia (EFA, MIM# 113310) share the full phenotypic spectrum of @DISEASE$, whether they are allelic disorders or represent two variable presentations in the spectrum of the same disorder is not an established fact.	false
+d762c7fc7797fc33810938cc34ec6b7e97b74086	@DISEASE$ has been demonstrated in various clinical conditions ranging from generalized gangliosidosis with @PHENOTYPICFEATURE$ to clinical pictures resembling Morquio's disease and normal intelligence.	false
+5ef642b422d8916925cc8491cb482a64296a5d34	Clinical and biochemical findings in a patient affected by chronic @DISEASE$, presenting as progressive dystonia and @PHENOTYPICFEATURE$, are reported.	false
+b83530b2356b9732932482a5d38f34f7bb821ab4	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+775f0917afe136253f8e832841c8904b8d7c144c	Generalized gangliosidosis: acid @DISEASE$ with early onset, rapid @PHENOTYPICFEATURE$ and minimal bone dysplasia.	false
+d6a2e42a5a1b603933284ef14f22f1abe90f7345	Although SNESO (P < 0.05) and perhaps plasma NE (P < 0.06) were raised to a greater extent during @DISEASE$ than during @PHENOTYPICFEATURE$ euglycemia, FNESO was not.	false
+c7af6a94c283e644394f7c73df2f1bbd91592c7c	Four groups of male Sprague-Dawley rats were used: 1) normal controls (N) had 4 days of sham antecedent treatment; 2) an antecedent hypoglycemia group (AH) had 7 episodes of @DISEASE$ over 4 days; 3) an antecedent hyperinsulinemia group (AE) had 7 episodes of @PHENOTYPICFEATURE$ euglycemia; and 4) an antecedent corticosterone group (AC) had 7 episodes of intravenous corticosterone to simulate the hypoglycemic corticosterone levels in AH rats.	false
+5097d6d6cd2f565c6a9f2ab85dbe2d24568d5e3b	Children with @DISEASE$ tend to be heavier than their peers; however, the relationship between the magnitude of @PHENOTYPICFEATURE$ and the severity of limb deformities in Blount disease has not been well studied.	false
+390b3d0386af3098081d9ff6a88c480ceb3cd13b	Children with Blount disease tend to be heavier than their peers; however, the relationship between the magnitude of @PHENOTYPICFEATURE$ and the severity of limb deformities in @DISEASE$ has not been well studied.	false
+7e8152fa3367882b9b3bcfec006b3f35cfe77ca2	Slipped capital femoral epiphysis (SCFE) and tibia vara (@DISEASE$) are associated with childhood @PHENOTYPICFEATURE$.	false
+8d75ff3e65608e0ab51ae7386f7a3769728b06da	@DISEASE$ is a developmental disorder associated with childhood @PHENOTYPICFEATURE$.	false
+09745be9f7356f0b0240bc84440f7226392e6126	Although the etiology of @DISEASE$ may be multifactorial, the strong association with childhood @PHENOTYPICFEATURE$ suggests a mechanical basis.	false
+3fc1bc549ffbd8e4f5f1ed7d035e63c05a46a5b5	To describe the relationships between pediatric @PHENOTYPICFEATURE$, MBS, SCFE, and @DISEASE$.	false
+a8cc80b22d5c3c20b74889adb50e34a6033f5fdc	@DISEASE$ has not been reported in the literature in association with PWS despite excessive @PHENOTYPICFEATURE$.	false
+e4c431e7fdeb5ea8fbecf0de31312259944f844e	@DISEASE$ (tibia vara): another skeletal disorder associated with childhood @PHENOTYPICFEATURE$.	false
+65d956b11785d83c0bc9105d10b7342537fd12af	The incidence of infantile @DISEASE$ is rising in parallel to the increasing @PHENOTYPICFEATURE$ in children.	false
+6f451ae9abef49d1bd36d0639df7ab36fd4ef898	Although @PHENOTYPICFEATURE$ has been associated with precocious puberty, whether children with @DISEASE$ have advanced skeletal maturity has not been previously investigated.	false
+eb79e2add8166ea69ea7a7367a3a0eeb71cd1972	The rates of SCFE and @DISEASE$ in children with and without @PHENOTYPICFEATURE$ are .46%	false
+768da184fed2acd2823196e81e3277b532c5be86	@PHENOTYPICFEATURE$ after @DISEASE$.	false
+c4e77dc41c40a1d5b943decea738e1ce94a0281c	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of ovarian hyperstimulation syndrome (@DISEASE$), abdominal pain, @PHENOTYPICFEATURE$ and diarrhoea.	false
+458b12ced62ca1d7a57d48faf3a5a828510c283c	A 39- year-old woman, who conceived following in vitro fertilisation (IVF) treatment, presented at 12 weeks gestation with symptoms of @DISEASE$ (OHSS), abdominal pain, @PHENOTYPICFEATURE$ and diarrhoea.	false
+31f965d2c61ab3b9f3888c84650b38ee5b922e69	We report a case of severe @DISEASE$ associated with a spontaneous normal singleton pregnancy in a 23-year-old woman presenting with severe abdominal pain, @PHENOTYPICFEATURE$, and dyspnea.	false
+0081a1df3d93c7cb85c74663e940e5ca2019745e	No adverse effect was observed in group A, while in group B, varying degrees of nausea, @PHENOTYPICFEATURE$, headache and dermatitis were observed in 29 cases, ovarian hyperstimulation syndrome (@DISEASE$) like polycystic ovary was observed in 14 cases under the B ultrasound.	false
+523838957fb277120aca1945b72ae15a97a6e8e9	No adverse effect was observed in group A, while in group B, varying degrees of nausea, @PHENOTYPICFEATURE$, headache and dermatitis were observed in 29 cases, @DISEASE$ (OHSS) like polycystic ovary was observed in 14 cases under the B ultrasound.	false
+4b005e86024450ada7ef5d282bbc406675c90ae2	A case is presented of a 30-year-old, @PHENOTYPICFEATURE$ and epileptic patient, with a progressive @DISEASE$ since birth.	false
+304b878c12de39b6327820116309df083505343d	No significant differences were found in terms of type of @PHENOTYPICFEATURE$, whilst Paroxysmal Exertion-induced Dyskinesia (@DISEASE$) is confirmed to be the most characteristic movement disorder type in GLUT1DS.	false
+33d0281a3648cdc275c759daad3257b7df2eaf13	No significant differences were found in terms of type of movement disorder, whilst Paroxysmal Exertion-induced Dyskinesia (@DISEASE$) is confirmed to be the most characteristic @PHENOTYPICFEATURE$ type in GLUT1DS.	false
+da809cc02d383d2c672167b895bfa390da5b6af6	A special form of transient @PHENOTYPICFEATURE$, the paroxysmal exertion-induced dyskinesia (@DISEASE$), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect.	false
+89c605e9ee4bb37e0d9f95c26af28902ec2ba73d	Forty-nine subjects with metabolic syndrome and @PHENOTYPICFEATURE$, aged 25-80, entered a randomized, 2-arm, 12-week intervention trial; 23 randomized to the MED arm; 26 to the @DISEASE$ arm.	false
+83ee8272890afafb950bfa9062492244cc53fc6d	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including paroxysmal exercise-induced dystonia (@DISEASE$), as well as seizures, mental retardation and hypoglycorrhachia.	false
+04de771ca308eadafec598fc7b80f03d36bc54ce	GLUT1-DS is characterized by @PHENOTYPICFEATURE$, including @DISEASE$ (PED), as well as seizures, mental retardation and hypoglycorrhachia.	false
+8647d5452dc8f86760927344a65bd52d5fa2b183	Paroxysmal dyskinesias (PDs), a clinically and genetically heterogeneous group of episodic @PHENOTYPICFEATURE$, include kinesigenic PD (PKD), exercise-induced PD (@DISEASE$) and non-kinesigenic PD (PNKD).	false
+e1bfd2de2a7e5386fb40c737ba7ab98f4cb8aa5e	Familial paroxysmal exercise-induced dyskinesia (@DISEASE$) is a rare @PHENOTYPICFEATURE$ that is mostly caused by mutations in the solute carrier family 2, member 1 (SLC2A1) gene and inherited in an autosomal dominant manner.	false
+2b462c1e5dd9857445404511bcb8fbbb692b2bc0	These results support the hypothesis that patients with @DISEASE$ and early onset @PHENOTYPICFEATURE$ may have large deletions of 4p that include a gene(s) that may be responsible for a dominant form of congenital glaucoma.	false
+2d8deae3c8ab89f2012760c88bcbea7cd9777556	However, analysis of the morphological data on the @DISEASE$ revels that association of typical external features and abnormalities ofthe brain (shortening of the H2 area of Ammon's horn, dystonic dysplastic gyrae in the cerebellum), eyes (colobomata, @PHENOTYPICFEATURE$, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.	false
+d9c93faf3d213fd01d431bf4f87b264a92ca5152	Five other patients with Wolf-Hirschhorn syndrome and early onset @PHENOTYPICFEATURE$ or ocular anomalies associated with early onset glaucoma have been previously described, suggesting that the association with @DISEASE$ is not coincidental.	false
+00631c27263baa2e4467ec697e176399a1f1e07a	Five other patients with @DISEASE$ and early onset @PHENOTYPICFEATURE$ or ocular anomalies associated with early onset glaucoma have been previously described, suggesting that the association with Wolf-Hirschhorn syndrome is not coincidental.	false
+86f017230545743e011fc7d4cc6db66e23508620	Five other patients with Wolf-Hirschhorn syndrome and early onset glaucoma or ocular anomalies associated with early onset @PHENOTYPICFEATURE$ have been previously described, suggesting that the association with @DISEASE$ is not coincidental.	false
+7ca35e590d14189fef1eebf76e81d8b1611a33e1	Five other patients with @DISEASE$ and early onset glaucoma or ocular anomalies associated with early onset @PHENOTYPICFEATURE$ have been previously described, suggesting that the association with Wolf-Hirschhorn syndrome is not coincidental.	false
+9035efd98483e69709503facea57017ddfbf9c72	We have identified a patient affected with @DISEASE$ and early onset @PHENOTYPICFEATURE$.	false
+4d6d0003de1848bcfccf57ab1f6e29c8f7a8aeb4	Bilateral @PHENOTYPICFEATURE$ with orbital cysts in @DISEASE$.	false
+65f289e591e213e510e627c5fb9f48ea99d78b0b	However, there is a growing body of research employing EPG to diagnose and treat articulatory impairment associated with acquired motor @PHENOTYPICFEATURE$ (@DISEASE$) in adults.	false
+04fecd0c9293c40863bac6531abf5ea96d1acbac	Moreover, medical and rehabilitation interventions for PD-associated motor @PHENOTYPICFEATURE$ (@DISEASE$) have a poor long-term prognosis.	false
+08eca0ae284e71ca2dafe749c99df6c116aca997	All showed characteristics of the disease, including malformations, stunted growth, microcephaly, @PHENOTYPICFEATURE$, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (@DISEASE$) activity.	false
+5e5cdab6c7d99c9f0760e25da2452166860890cf	All showed characteristics of the disease, including malformations, stunted growth, @PHENOTYPICFEATURE$, skin hyperpigmentation, high incidence of chromosomal breaks in lymphocyte cultures, and hematological and biochemical abnormalities: pancytopeny, increased fetal hemoglobin levels and significantly decreased superoxide dismutase (@DISEASE$) activity.	false
+d05228d208b391ba1ed395c6a8597747e3bab749	The @PHENOTYPICFEATURE$ was suppressed partially by repeated injection of superoxide dismutase (@DISEASE$).	false
+0189f9713e57054a0dde6df8ee7e121603c793bb	Histologic examination showed that the degrees of atelectasis and @PHENOTYPICFEATURE$ in the @DISEASE$ treatment group were milder than those of the control group.	false
+53390aa08d5959c8d8893c4ada88c2f92bdcc41e	Tissue @PHENOTYPICFEATURE$, neutrophil density, superoxide dismutase (@DISEASE$) activity and malondialdehyde (MDA) levels were evaluated.	false
+2877ec235850fb71cef965273d85645e0879450e	After 66 h, lung tissue was assessed for @PHENOTYPICFEATURE$, myeloperoxidase (MPO), and superoxide dismutase (@DISEASE$).	false
+f5c0721d870619ad312bd52b63f55751e6d9efea	However, additional continuous injection of superoxide dismutase (@DISEASE$) into the external jugular vein completely suppressed the hemorrhage and relieved the @PHENOTYPICFEATURE$.	false
+c9f0ff51f791e89399c73464e9ddc923ee551cc0	Major adverse reactions include reflex activation of the adrenergic nervous system, renal @DISEASE$ retention, and @PHENOTYPICFEATURE$.	false
+5f9f304ab9c5739705a52d8864cd301721ed1044	The skin purpura, macroscopic hematuria, hypertension and @PHENOTYPICFEATURE$ subsidence time, 24 hrs urinary protein content, serum levels of immunoglobulins (IgA, IgG, IgM), superoxide dismutase (@DISEASE$) activity and malonyldialdehyde (MDA) content were observed before and after treatment.	false
+24a4fa29d6e03dc283786f592493112d2f948759	The skin @PHENOTYPICFEATURE$, macroscopic hematuria, hypertension and edema subsidence time, 24 hrs urinary protein content, serum levels of immunoglobulins (IgA, IgG, IgM), superoxide dismutase (@DISEASE$) activity and malonyldialdehyde (MDA) content were observed before and after treatment.	false
+9f5d5e7c1f27d8ac00cb85adaad18f670788bb68	Treatment 30 min after hypertension with @DISEASE$ or polyethylene glycol-conjugated SOD reduced @PHENOTYPICFEATURE$ caused by hypertension.	false
+9f3930299beae06d5118b2a70e1645a571b9f69c	Heritable cardiac-@DISEASE$ channel dysfunction is associated with various @PHENOTYPICFEATURE$ syndromes, some predisposing to ventricular fibrillation.	false
+cf81761ae375b648a8d678c1916cffd53f8ac784	@PHENOTYPICFEATURE$ and @DISEASE$ in bilinguals.	false
+e1a1bb6585e07825204165c32cbf03d1af3b57fd	VN and MS manifest two different types of reading disabilities, @PHENOTYPICFEATURE$ and @DISEASE$, respectively.	false
+c670f22f6ab392b7f0291a95bca753c102c39b6b	These findings suggest subtypes of high functioning @DISEASE$, one showing language deficits characteristic of dysphasia and one showing patterns similar to visual spatial @PHENOTYPICFEATURE$.	false
+aa61e3e91f8a9dceb605a93d41b1b7f1405bc067	Friedreich's @PHENOTYPICFEATURE$ (FRA) is an autosomal recessive disease of the central nervous system that is associated with @DISEASE$.	false
+77f23d82cc27ca357104f3399420b5ac2db1203c	Here we report a patient presenting with a complex phenotype consisting of severe, adult-onset, dilated cardiomyopathy, hearing loss and @PHENOTYPICFEATURE$, in which exome sequencing revealed two genetic variants that are inherited from a healthy mother: a novel missense variant in the CASK gene, mutations in which cause a spectrum of neurocognitive manifestations, and a second variant, in MYBPC3, that is associated with @DISEASE$.	false
+468e32755c2df1803a1dfa5df1cec0a9b98e5785	@DISEASE$, @PHENOTYPICFEATURE$ and myopathy associated with desmin-type intermediate filaments.	false
+55f6d99411f9d6b4ef16ef316c542308ab208a66	Sairei-to, one of the Japanese-Chinese herbal medicines has been used for the treatment of various diseases, especially @DISEASE$ and @PHENOTYPICFEATURE$ in nephrotic syndrome.	false
+3ea61302b85ed6cdb3eb74ebd750cf564ccc7576	The recognized causes of eosinophilia, such as allergy, parasite, and @DISEASE$, and the causes of @PHENOTYPICFEATURE$, such as heart, kidney, and liver diseases, were ruled out.	false
+552b6c5014ce4275fa24c544811e20b6e6d0af3f	Underlying disorders causing @PHENOTYPICFEATURE$, such as heart, kidney, and liver diseases, and the recognized causes for hypereosinophilia, such as allergy, parasites, and @DISEASE$, were ruled out.	false
+579e7cbffcb2f233b4eab5af10c5dd5732143814	The first, associating cerebellar and pyramidal signs, @PHENOTYPICFEATURE$ and finally pseudo-bulbar palsy, may be called @DISEASE$ encephalopathy.	false
+1bf59fc11e83d99eb7dfed0d16532c0c8c670a40	Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause @PHENOTYPICFEATURE$ (@DISEASE$) when this mutation is present.	false
+43a3f21253148f06755167060724250f82eaa727	To describe the ocular findings, @PHENOTYPICFEATURE$, and association of structural complications of uveitis with visual impairment in a cohort of survivors of @DISEASE$ (EVD) in Monrovia, Liberia.	false
+846861eec792fe753d426e09e10b913efad09060	To describe the ocular findings, visual impairment, and association of structural complications of uveitis with @PHENOTYPICFEATURE$ in a cohort of survivors of @DISEASE$ (EVD) in Monrovia, Liberia.	false
+1d1910319de5cd7727b626354675d614ae3df3f9	Since @DISEASE$ virus (EBOV) may persist in the ocular fluid of EVD survivors for an unknown duration, there are questions about the safety and feasibility of vision restorative @PHENOTYPICFEATURE$ surgery in EVD survivors.	false
+c14c119286451d5a76a4971d9b094a871b3e970b	The imagings of the @PHENOTYPICFEATURE$ resemble @DISEASE$.	false
+07edf58405002689ebb043f908b6ebb33556e12e	The @PHENOTYPICFEATURE$, a @DISEASE$, was partially removed.	false
+4fd80e2e88df2aa925a25e2bfcd50f8ecfd178a0	Genetic reduction of Serpine2/Pn-1 interferes with @DISEASE$ development in Ptch1?/+ mice, as ~60% of the pre-neoplastic lesions (PNLs) fail to develop into medulloblastomas and remain as @PHENOTYPICFEATURE$ nodules.	false
+3caf8f96b0f8162ea9abf56c625920ffdac22523	Genetic reduction of Serpine2/Pn-1 interferes with medulloblastoma development in Ptch1?/+ mice, as ~60% of the pre-neoplastic lesions (PNLs) fail to develop into @DISEASE$ and remain as @PHENOTYPICFEATURE$ nodules.	false
+dcd1dc0f8b2ea75c59372c167610d305882b0348	Histologically, the former proved to be a large metastasis of the @PHENOTYPICFEATURE$ @DISEASE$, which infiltrated and compressed the chiasm.	false
+9be602bfcffb9b3a590790a5a678097682112808	Disappearing cystic cerebellar @DISEASE$: the ghost @PHENOTYPICFEATURE$.	false
+b0abe60e0daa7dbaedc848391d7f799e63f35e8a	@PHENOTYPICFEATURE$ and learning disabilities following cranial irradiation for @DISEASE$.	false
+1a42dd220d1c5089f22aff636229a6d95dddbfda	We retrospectively reviewed cranial CT studies of 56 patients diagnosed with @DISEASE$ from 1983 through 1997 for the presence of @PHENOTYPICFEATURE$.	false
+87999b74354082fa69f54da1609d0dd7a2735ebd	@DISEASE$ @PHENOTYPICFEATURE$ suppressor locus.	false
+3d4e1188f18a64d9849516bac123498eec3551ba	A @DISEASE$-like @PHENOTYPICFEATURE$ with melanin formation.	false
+10e38505ab7758ab982f8935e42db34a5ff2641c	Our purpose was to document the frequency, location, and time of occurrence of @PHENOTYPICFEATURE$ in cranial CT studies of children with @DISEASE$.	false
+42d180065ab729b78b55b6d394dc4b8e662209e6	@DISEASE$ with multiple primary amelanotic melanomas in oculocutaneous @PHENOTYPICFEATURE$.	false
+aec28908d0adf961a99a92d716bad4e12725a4d0	Three groups of familial malignant melanoma may be distinguished: malignant melanoma without additional skin disorders, melanoma associated with disturbances in the pigmentation system (including @PHENOTYPICFEATURE$, congenital nevi, and the @DISEASE$), and malignant melanoma in other forms of genodermatosis.	false
+5c8df4650b7caded740411812b140c2c877d35bb	A history of corneal refractive surgery in the donor eye, @PHENOTYPICFEATURE$, @DISEASE$, and malignant tumors of the anterior segment are contraindications to keratoplasty.	false
+8d8e351fa25c0f53f5e410e55a2a00b31783d1f4	Abnormalities of @DISEASE$ gene structure in human @PHENOTYPICFEATURE$.	false
+4120df0977b1fcd24088cd4f98f30247fa8d582f	"13q-"syndrome is known to have widely variable manifestations, including @DISEASE$, mental & growth retardation, malformation of brain & heart, @PHENOTYPICFEATURE$, and anomalies of the face and limbs.	false
+128913e05cfee45b9f0c26c64e1611e64ca35d51	Upregulation of microRNA-132 in @PHENOTYPICFEATURE$ promotes cell proliferation via @DISEASE$ 1 targeting.	false
+fa1207bfb583a64f8d5813acc637e541c735c3b4	Mechanism of @DISEASE$ gene inactivation in the spectrum of neuroendocrine @PHENOTYPICFEATURE$.	false
+94d9f76dc2c6340b452ab1618cc007c05790adf9	We report a case of an 11-month old child with @PHENOTYPICFEATURE$ with this presentation of @DISEASE$.	false
+057320b49c1f02d59720d2613a08eb823b148c93	Immunohistochemistry demonstrated that phosphorylated @DISEASE$ (Rb) protein was decreased in @PHENOTYPICFEATURE$ of the treatment groups, compared with the control group.	false
+e409080e2d07f5c3965d6aa90cc627f424084878	@DISEASE$ with an unusual presentation in a child with @PHENOTYPICFEATURE$.	false
+6775d607a82d178ecf6401b11eadb6a798969a35	We also discuss possible factors having a link to both @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1b23c816691243027091b2feb0a03c9fd1390d1f	Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, @PHENOTYPICFEATURE$, eye malformations, @DISEASE$, and hand, foot, and toe abnormalities.	false
+23f507e02ac8ef1ceb5bcfab1c528d6b447e3072	Male, 0 FINAL DIAGNOSIS: @DISEASE$ Symptoms: Decidious tooth ? flattened nasal bridge ? frontal bossing ? grooved palate ? low-set ears ? mid-@PHENOTYPICFEATURE$ ? nuchal fold thickening ? right inquinal testis ? shortened upper extremities ? undescended left intraabdominal testis ? widely spaced nipples	false
+fabf6e632e4c4ffbf85203f75f6db1b5c3a5f39f	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal @PHENOTYPICFEATURE$, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+1ea307190a29f1f33f6696289361d38dce7f3804	The Korean Obesity Index, which contains standard reference data (@DISEASE$) of @PHENOTYPICFEATURE$, was established in 2016 and revised in 2017 based on national health screening data to provide the distribution of the body mass index (BMI) of the whole population of Korea as a reference.	false
+b3ef4435bb9e0e6310757631002f6986e5572794	The purposes of this qualitative/descriptive study were to (a) explore experiences and decision-making behaviors associated with adoption of a sodium-restricted diet (@DISEASE$) among older women with hypertension or @PHENOTYPICFEATURE$ and (b) identify healthcare system and contextual factors that facilitate or impede adherence to SRD.	false
+ee96307d79e4ddd662e5b0fd03ed0322f73ed538	Despite the importance of the sodium-restricted diet (@DISEASE$) to @PHENOTYPICFEATURE$ (HF) management, patient adherence is poor.	false
+164b15aa2fa6d9e719a5aa2f5ca8b01efa7c4cdb	There were no significant differences in @DISEASE$, TMD, and SPD between the tinnitus-affected ears (TEs) and non-@PHENOTYPICFEATURE$ ears (NTEs) in Groups 1 and 2 (p > 0.05).	false
+87bd1cac836f31e5cbc452e69a4bcd24431da6c8	Linear regression models of sleep disturbance revealed all mental disorders except @DISEASE$ (??=?0.038) had independent associations with @PHENOTYPICFEATURE$, with generalised anxiety disorder (GAD) (??=?0.173), major depressive disorder (MDD) (??=?0.117) and post-traumatic stress disorder (PTSD) (??=?0.111) making the greatest contribution.	false
+6fe0fe4bead6e8fcc700cc7a91eac323e4c674a6	Disorders of anxiety vary in severity to a wide extent, and @DISEASE$ (OCD) persists as the fourth most common form of mental illness and is reported to be associated with @PHENOTYPICFEATURE$, necessitating effective means of treatment.	false
+7d2936073a2203d4bc5ee3f22096908f993ab8e6	Well-known cutaneous side effects of interferon (IFN)-alfa therapy include dry skin, pruritus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c6d98a7529e8679074180088fc5afcf610c19a2e	Characteristic for the disease are diffuse, @DISEASE$-like, acral erythema, distal @PHENOTYPICFEATURE$ and onychodystrophy.	false
+9e58b505ae85d60acae7416921bb2bd496b114ab	Nitric oxide release accounts for the reduced incidence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5b282ec97d3b7ccb0de6cf6d96d479dcbbff0a70	Alopecia and other @PHENOTYPICFEATURE$ occurring in patients with @DISEASE$ were first recognized over four decades ago, yet psoriatic alopecia is not a well-known concept among clinicians.	false
+e867ae6dc7989bb57fbff091a0202db7b356cd4a	The patient complained deteriorating symptoms (erythrodermia, skin pruritus, and pain) of @DISEASE$ and obvious pitting @PHENOTYPICFEATURE$ on his legs.	false
+dcc5b09add77935f1ed2d8a8e3c7706847bfc92b	The patient complained deteriorating symptoms (erythrodermia, skin @PHENOTYPICFEATURE$, and pain) of @DISEASE$ and obvious pitting edema on his legs.	false
+377005ab8345415e8f6401bfcdaccc176e15be4b	Patient global assessment of @DISEASE$, @PHENOTYPICFEATURE$, and joint disease scores were improved by means of 2.2 (2.15-2.34),	false
+b846369fe02a1f3b2fd693d9720de830eacb6372	@PHENOTYPICFEATURE$ and @DISEASE$ were of similar frequency in male and female patients, while a higher number of female patients had eczema of the hands.	false
+4526c83ddf2be682378257e494a83779e56f7b3a	Eczema and @DISEASE$ were of similar frequency in male and female patients, while a higher number of female patients had @PHENOTYPICFEATURE$ of the hands.	false
+1d2cd91436db7d03c07ec80541a67b27b0d1d064	Fifty-seven (28.21%) patients had palmoplantar @DISEASE$ (PPP), 35 (17.32%) had @PHENOTYPICFEATURE$ (PPK), and 26 (12.87%) had hand eczema (HE) with mean DLQI scores 8.60, 8.53, 8.60, and CDLQI scores 8.40, 8.28, and 8.26, respectively.	false
+4ff543a4b20f14071beb317a567536dd0983198d	Fifty-seven (28.21%) patients had palmoplantar @DISEASE$ (PPP), 35 (17.32%) had palmoplantar keratoderma (PPK), and 26 (12.87%) had hand @PHENOTYPICFEATURE$ (HE) with mean DLQI scores 8.60, 8.53, 8.60, and CDLQI scores 8.40, 8.28, and 8.26, respectively.	false
+7ec5edc78163a18e968c777b9b378259e214cd9e	Rheumatologists recommended dermatologists ask @DISEASE$ patients about @PHENOTYPICFEATURE$, stiffness, swelling, and fatigue to evaluate for psoriatic arthritis.	false
+a5fb08852408294ee13e422e0c0fccb1b835561e	HLA-C expression pattern is spatially different between @DISEASE$ and @PHENOTYPICFEATURE$ skin lesions.	false
+4cdc4517ad9be67d0f6f0d1d9d08ddadf134cea4	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and @DISEASE$, and @PHENOTYPICFEATURE$ like neuropsychiatric, hyperactivity and autism spectrum disorders are closely associated with neurobiological deficits.	false
+9463cf8ff1156482633474663b29989916aecf1b	Neurodegenerative disorders like Alzheimer's disease, Huntington's disease, Parkinson's disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich's ataxia, hereditary spastic paraplegia and @DISEASE$, and behavior disorders like neuropsychiatric, hyperactivity and @PHENOTYPICFEATURE$ spectrum disorders are closely associated with neurobiological deficits.	false
+e9a4b7ff44d27e8c3bcf940f7a2cad30fd1b57b0	This is the first description of infantile @DISEASE$ due to a maternally transmitted T10191C substitution in ND3 and not due to a de novo @PHENOTYPICFEATURE$.	false
+604d5d402a19915ed1bca9be5e29ab92ccea6da1	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with @PHENOTYPICFEATURE$, partial sensorineural deafness, and peripheral neuropathy or with @DISEASE$.	false
+8b53fa5e22f80ce5bbc2e105c6c430dbbe324b85	The patient's older brother also was diagnosed as PDHC deficiency with @DISEASE$, suggesting that PDHC deficiency in these two brothers was not a de novo @PHENOTYPICFEATURE$.	false
+f22951f49ac24f31ede5ee3aa703c704b28cdb09	The neurological features of @DISEASE$, with special reference to @PHENOTYPICFEATURE$.	false
+98d79d8af8ca16ba1a127d03261015ba70b3b7d9	Associated systemic abnormalities were @PHENOTYPICFEATURE$, congenital rubella, cleft lip and palate, facial hemangioma, inguinal hernia, clinodactyly, @DISEASE$, Goltz-Gorlin syndrome and Hallermann-Streiff syndrome.	false
+5ee87edaf44d38f761bfa2133a6ee330e47837d6	A female patient with known @DISEASE$, who underwent hematopoietic cell transplantation, presented with @PHENOTYPICFEATURE$ and delayed puberty.	false
+ce3b98845e240ec7b545ed66830d1c28eaa6eb59	We describe two cases of neonatal onset @PHENOTYPICFEATURE$ eventually diagnosed as @DISEASE$ (MPS I).	false
+1d2d9cbd80003cb0946b79d84ede84def5416cb0	@DISEASE$ and @PHENOTYPICFEATURE$: expanding the 11q-- chromosomal deletion phenotype.	false
+75c8f261ac925861dcc5356a42866e58ce25882f	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+9aa79dc6b1966069ec2e01ae3ec8a0c261978561	Saethre-Chotzen syndrome, a common autosomal dominant @DISEASE$ in humans, is characterized by brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura.	false
+c2b742aa4ffc69c9cc5402e74a8530e7caa97ab1	Neonatal hyperthyroidism with accelerated skeletal maturation, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+71894a44da69b9421efe14476f1270f1f7ae08d7	Bilateral or unilateral coronal @DISEASE$, @PHENOTYPICFEATURE$, tarsal and carpal coalitions are the typical clinical findings.	false
+05dba99d921a7a9b05b6f9c63e49ec83f3aa1851	Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural @DISEASE$ and hand and foot anomalies consisting principally of brachydactyly, @PHENOTYPICFEATURE$, and polydacytly.	false
+bad5aa4c9b75a166d1f3e21d4d7e37114bd205dc	Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural @DISEASE$ and hand and foot anomalies consisting principally of @PHENOTYPICFEATURE$, syndactyly, and polydacytly.	false
+e0cb0db2925b585c1f1fa4bcab03dfb5908d6864	The craniofacial and @PHENOTYPICFEATURE$ are reminiscent of several @DISEASE$.	false
+09bc01623190d372cb66d315afe8c461548ea518	The inherited forms of @DISEASE$ can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and @PHENOTYPICFEATURE$, and craniosynostosis with other somatic abnormalities.	false
+ae5eb0528d08db12656d9ef96c8cb7f158d6dbb9	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, @DISEASE$ with polydactyly and @PHENOTYPICFEATURE$, and craniosynostosis with other somatic abnormalities.	false
+5f5bed670225c98c6063a90fcda56c3291522427	The inherited forms of @DISEASE$ can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with @PHENOTYPICFEATURE$, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities.	false
+217b8c975e14f719cac04b7cbddd9aa5157b802a	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with @PHENOTYPICFEATURE$, @DISEASE$ with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities.	false
+21b2c201f83004e75d0031ceee2aabeea8df3d4b	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and @PHENOTYPICFEATURE$, and @DISEASE$ with other somatic abnormalities.	false
+377c3aced8e428fcc47383609742617303319b6f	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, @DISEASE$ with syndactyly, craniosynostosis with polydactyly and @PHENOTYPICFEATURE$, and craniosynostosis with other somatic abnormalities.	false
+99faa00ce2eb4831194ea7104ef6f3da943d126c	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, @DISEASE$ with @PHENOTYPICFEATURE$, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities.	false
+0330129b592ba93b670686e24be030b37f01616e	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with @PHENOTYPICFEATURE$, craniosynostosis with polydactyly and syndactyly, and @DISEASE$ with other somatic abnormalities.	false
+32ede639fe6a540e6b1c0a645457d187ee0fc0b5	Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the IHH locus have recently been described in patients with mild @PHENOTYPICFEATURE$ and @DISEASE$.	false
+504584466697b1983e22eddec2f933e1b5c60093	Although missense mutations in IHH cause @PHENOTYPICFEATURE$ type A1, small tandem duplications involving the IHH locus have recently been described in patients with mild syndactyly and @DISEASE$.	false
+2783ba78fa8c4434817bbb88999151d8b7a5d90f	A distinct autosomal dominant @DISEASE$-@PHENOTYPICFEATURE$.	false
+5c3d2f7f6307cacb051675dbe7cf6158bc79ffcf	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+95915f09cd117a378a8db9c85a97a864508cc33e	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant @DISEASE$ with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+f259a6165d84871e327ed968b399f677532a30c4	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant @DISEASE$ with @PHENOTYPICFEATURE$, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+2bba2d4a80fc0144571161529055e485bf5ca913	The two patients described elsewhere who have MYO5A mutations and neurological complications but no immunologic defects may not have GS but instead may have @DISEASE$, a condition characterized by mild hypopigmentation and severe, primary @PHENOTYPICFEATURE$.	false
+f92e2a04f190b14b3503cb5714e3cdcc37c50a82	The neurological deficits in @DISEASE$ were reported as severe @PHENOTYPICFEATURE$, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems.	false
+6305f8732399565ff6868e9619b67e4c5c2ee2a9	She had a history of @DISEASE$ (a peripheral motor neuron disorder), congenital heart disease (ASD and VSD), treated Hashimotos thyroiditis, @PHENOTYPICFEATURE$ and a family history of haemachromatosis.	false
+d048330189de0fd3959e9f84b3c229164f1c736a	These include @DISEASE$, episodic ataxia type-1, hereditary @PHENOTYPICFEATURE$ syndromes, benign familial neonatal convulsions and hypokalaemic periodic paralysis.	false
+04d8ccf0bd39a6f508a91b1aff84bbc695c36c44	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, @DISEASE$, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+ba20d7b554b1a799d4490bbbb5d97e45ffac8cfb	@DISEASE$ (RS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, genital hypoplasia, and craniofacial/orodental abnormalities.	false
+d4808fe4edb0d12fd00597d7cb9802293e4f8c9c	We describe a case of a young black woman with gradually progressive lower extremity paresthesias, weakness, and @PHENOTYPICFEATURE$ as the primary presenting symptoms of @DISEASE$.	false
+e3b4f979836519ea19875de45bf5fe4061710360	The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (Alzheimer's disease and Huntington's disease, @DISEASE$ and hepatic encephalopathy, epilepsy, Parkinson's disease, Creutzfeldt-Jakob disease); behavioral disorders due to psychoactive substance use (alcoholic intoxication, abuse of morphine); schizophrenia and other schizotypal disorders (puerperal psychosis); mood (affective) disorders (depressive episode); neurotic, stress-related and somatoform disorders (posttraumatic stress disorder, obsessive-compulsive disorder); behavioral syndromes associated with physiological disturbances and physical factors (anxiety disorders, anorexia nervosa, narcolepsy); @PHENOTYPICFEATURE$ (Cohen syndrome, Down syndrome, Hunter syndrome); behavioral and emotional disorders (attention deficit hyperactivity disorder).	false
+a506a5e70648470ba0e7903ebd3cd25bad5ae879	A 61-year-old woman with a history of @DISEASE$ presented with progressive muscle weakness and @PHENOTYPICFEATURE$.	false
+8cdf4f2101d2874e582e365c9a80a20009736e7a	The outcome was rapidly marked by febrile pancytopenia and @PHENOTYPICFEATURE$ leading to the diagnosis of @DISEASE$.	false
+08939ddf433a1b6d38aa4d5ae32a02bb86a81570	@DISEASE$ lymphoma was the most common intestinal @PHENOTYPICFEATURE$ identified, followed by adenocarcinoma and smooth muscle tumors.	false
+c8d52960b42982bb57a639dacd325947264dfb05	The perioperative blood transfusions have been associated with @PHENOTYPICFEATURE$ recurrence and decreased survival in various types of @DISEASE$ tract cancer.	false
+9accf2883f9737a811101a5b92e41bc44e26a578	[Surgical approach to abdominal aortic aneurysm with malignant @DISEASE$ tract @PHENOTYPICFEATURE$: report of three cases].	false
+d2d0103012479093165553ea18f9e512a3318b02	Viral proteins of bovine papillomavirus type 4 during the development of @DISEASE$ canal @PHENOTYPICFEATURE$.	false
+54217f2b30c9e8737c2fb5a8b5824c38adb07ba6	@DISEASE$ hand syndrome is a rare condition that can result from neurodegenerative disorders, @PHENOTYPICFEATURE$, or strokes.	false
+d379d5f9f60e911ab5ae9b6b307473be72cf8b52	We show that the expression of two mRNP factors, THOC1 and @DISEASE$ are altered in several @PHENOTYPICFEATURE$ tissues.	false
+fb0e516bc697d3f821880bf49592181f5531e5e5	Initial observations on the administration of thymus extract (TFX) in patients with @DISEASE$ tract @PHENOTYPICFEATURE$.	false
+6f83b25e62487ffbf54823e2c66a9b6c1515c8de	Materials were obtained from patients with @DISEASE$ tract @PHENOTYPICFEATURE$ (stomach, liver; colon), diagnosed by routine histopathological examination.	false
+4efda1d411f250b638e66b023a7f014928da4344	Pattern of @DISEASE$ tract @PHENOTYPICFEATURE$ in Plateau State: a middle belt area of Nigeria.	false
+b390a4145080ad29c85cc4ce2fdc8051da2bc4e2	This case report describes a young male child with left temporal @DISEASE$, who demonstrated a constellation of autistic behaviors meeting DSM-III-R criteria for @PHENOTYPICFEATURE$.	false
+5fa0dade2e2e13de1c08900de16f16f9a9404131	@DISEASE$ due to TWIST1 mutations is characterized by coronal synostosis, @PHENOTYPICFEATURE$ and additional variable anomalies.	false
+4bdddc64e89234e7cdd24049f43465018e064afd	The diagnosis of the @DISEASE$ in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, @PHENOTYPICFEATURE$, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet.	false
+f5ee7a14480f00ec3701007b1fa61c879c1161d5	Saethre-Chotzen syndrome (@DISEASE$) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and congenital heart malformations.	false
+0e7147aced7c26280625078ea131adb1ab07346d	@DISEASE$ (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and congenital heart malformations.	false
+c9c868a82c69ad3ae2ae897d2ed3fbb00b7c1185	No patient developed @DISEASE$ or @PHENOTYPICFEATURE$.	false
+2107488a2b4d0731c4888201ab41b6cd67c56b44	No patient in either cohort developed hepatic @DISEASE$ or @PHENOTYPICFEATURE$ attributable to Bu.	false
+6c86cd8c21a5e5686b5443597857b876bb521bec	Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, @PHENOTYPICFEATURE$ and hyperreninaemic @DISEASE$.	false
+b0caa83bfd01e5825adee7748a046c4a242d9a6c	Specifically, RH is related to several conditions, including obesity, @PHENOTYPICFEATURE$, diabetes, metabolic syndrome and @DISEASE$, characterized by an overexpression of humoral and hormonal factors that are involved in the development and maintenance of TOD.	false
+5f58469e5595cb38c92fabd9a4b84c9b7b54bcf9	However, corticosteroids have a considerable number of side effects, including hypertension, diabetes, lipid disorders, @PHENOTYPICFEATURE$, osteoporosis, myopathy, and disorders of coagulation and fibrinolysis, which are components of @DISEASE$ (CS).	false
+3ae5430b5c0940f50084fcbf723c58bebf1d825f	PHA 2: The association of @PHENOTYPICFEATURE$/@DISEASE$ with high blood pressure should suggest PHA 2 or Gordon's syndrome, still called familial hyperkalemic hypertension.	false
+e20509e41e0529cd9ec26465b6acd838639817ab	Deletions or mutations in the gene encoding the basolateral chloride channel CLC-Kb (CLCNKB) cause classic Bartter syndrome (MIM 602023), which is characterized by hypokalemic metabolic alkalosis, hyperreninemic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+221c92cdaeb2b9a6638a7a368a642fdbc760ce20	In our case, her @PHENOTYPICFEATURE$ was proven to be a consequence of @DISEASE$ in relation to DSM.	false
+c4431de7aaa617a588c1961fcf7aec833b4691fd	@DISEASE$ (SFD) is an autosomal dominant @PHENOTYPICFEATURE$ caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene.	false
+dde6d2093f6cdfb586e196d05973c989a00c5f9a	Sorsby's fundus dystrophy (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$ caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene.	false
+aba6874880aa9b13a33b9e793c4be6922df2f7b8	as a convex protrusion of macula within a staphyloma in highly myopic eyes that cause @PHENOTYPICFEATURE$ associated with serous foveal detachment (@DISEASE$).	false
+bc6607663b7fcdbbf9f8119f6423787516e23010	Terminal @PHENOTYPICFEATURE$ was the rule in cases of @DISEASE$, which is a much rarer disease; this occurrence was secondary to hypertension.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+b3c0d996ccfb24a6ad14ee58f70f581bab857e05	@DISEASE$ causing @PHENOTYPICFEATURE$ in an adult.	false
+84e595cf49043703c4afe35c1e37464ad6485f79	Although @PHENOTYPICFEATURE$ is recognised as being associated with @DISEASE$ (PAN) only very rarely does it herald the disease.	false
+ed03c3c30d25d40908b13b5b60ba7431a009b2ff	We reported a case of a 22-year old female with a microscopic form of @DISEASE$ (PN) who initially manifested Beh?et's disease-like symptoms, such as fever, arthralgia, oral aphtha and @PHENOTYPICFEATURE$, and rapidly progressive glomerulonephritis (RPGN).	false
+3bfbb2021235ca6b04177aa3a0810637c5938314	@DISEASE$ with pulmonary manifestations and @PHENOTYPICFEATURE$.	false
+56aff180475be60fc8bae81aad1bb3fd1dd34ec5	@DISEASE$ (PAN) is a systemic vasculitis affecting the small- and medium-sized arteries that may present with @PHENOTYPICFEATURE$.	false
+bb3c8879850e8f9a65c67d99e1f603851aa6d7c9	@DISEASE$ (PAN), first described by K?ssmaul and Maier, is a well-known form of necrotizing angiitis whose manifestations are weight loss, fever, asthenia, peripheral neuropathy, renal involvement, musculoskeletal and cutaneous manifestations, hypertension, gastrointestinal tract involvement, and @PHENOTYPICFEATURE$.	false
+26c20adc87a3e32c2b4ba7ce30e8e2923bc07bb9	@DISEASE$ (PAN) is a necrotizing vasculitis affecting medium-sized vessels whose main manifestations are weight loss, fever, peripheral neuropathy, renal, musculoskeletal, gastrointestinal tract and/or cutaneous involvement(s), hypertension and/or @PHENOTYPICFEATURE$.	false
+40421a9eaefe5aa197142c3a7757d9514a1a7bf7	The typical symptoms of @DISEASE$ are behavioural disorders, affective symptoms and @PHENOTYPICFEATURE$.	false
+5458e3236360c0ce5dff1dc387c966be4ebf0b45	Limited data are available on motor @PHENOTYPICFEATURE$ in the behavioral variant of @DISEASE$.	false
+aed7c9752e2a5fbbf23ac57709ac5658a7667481	Language disorders, such as echolalia, verbal @PHENOTYPICFEATURE$ or aggramatism, dominate in the cognitive profile of @DISEASE$.	false
+3305f7d974b19f651633b65f665adda6e0ef4b87	To evaluate and characterize differences in dietary and eating behavior among patients with early @PHENOTYPICFEATURE$ (@DISEASE$) versus Alzheimer's disease (AD).	false
+5833478b050b95d161c18c6294553876845f0714	Patients with the following were studied; Alzheimer's disease (n=28), frontal variant @PHENOTYPICFEATURE$ (fvFTD, n=18), and semantic dementia-the temporal lobe variant of @DISEASE$ (n=13).	false
+ccff7c87bc17650ab62e13f93f6beb2291703548	Neuromyotonia(NMT) or @DISEASE$ is a rare syndrome characterized by continuous spontaneous muscle fiber contraction resulting from hyperexcitability of peripheral nerves often associated with autoimmune disorders and @PHENOTYPICFEATURE$.	false
+ad8c3c480615482559fc7a2e46f4f36a606631b8	It should be differentiated from conditions such as @PHENOTYPICFEATURE$ epilepsy, psychogenic movement disorder, @DISEASE$, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine.	false
+48da54d81e1d6373586c1337cf4ae4a47f70a85a	Particular attention was paid to @DISEASE$ and Morvan's syndrome, as well as their relationship to @PHENOTYPICFEATURE$.	false
+09ccfd34b1006efdab62ff97fd15b77caf34f9ca	Cerebral edema in @DISEASE$ is predominantly due to cytotoxic @PHENOTYPICFEATURE$.	false
+b5521dca37b0fe6d50af8ff055e65fe5236b43c6	Cytotoxic @PHENOTYPICFEATURE$ is responsible for raised intracranial pressure in @DISEASE$: in vivo demonstration using diffusion-weighted MRI in human subjects.	false
+5f08b1ec7fe5461ca2a42065f02f7f7849cb9979	Brain edema is a critical component of hepatic encephalopathy (HE) associated with @DISEASE$ and such edema appears to be principally due to astrocyte swelling (cytotoxic @PHENOTYPICFEATURE$).	false
+42d223d5f37a4468c89cd0c83ec0e89492759514	Brain edema is a critical component of hepatic encephalopathy (HE) associated with @DISEASE$ and such @PHENOTYPICFEATURE$ appears to be principally due to astrocyte swelling (cytotoxic edema).	false
+238ebb7373ac2801acc96129163579d03cfbe015	Our findings implicate glutamine and the peripheral-type benzodiazepine receptor in the pathogenesis of the @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+77e6ab8d8547723d00b1f5ebc419aae25286c718	It is not clear whether cerebral edema in @DISEASE$ is predominantly vasogenic or cytotoxic, though cytotoxic @PHENOTYPICFEATURE$ due to astrocyte swelling is more likely.	false
+f019b592fc8b7458234985c515fa10912515ce4b	Brain swelling in @DISEASE$ is produced by a combination of cytotoxic (cellular) and vasogenic @PHENOTYPICFEATURE$.	false
+4502a5452526fd5227197e9dd10f173cfe8ea3e5	Indications for liver transplantation in infants and children include @DISEASE$ (ALF), chronic liver failure with pruritus, complications of cholestasis and @PHENOTYPICFEATURE$.	false
+04034fd06ea0d28c108f2629e9691ae2ad4a923c	Matrix metalloproteinase-9 contributes to brain extravasation and @PHENOTYPICFEATURE$ in @DISEASE$ mice.	false
+99341287b6f355706d3dea52eaa073ddd2e3467f	Factors responsible for in hospital mortality were altered mental status at presentation (p0.018), @PHENOTYPICFEATURE$ (p 0.046), HE(0.018), @DISEASE$(0.018).	false
+3c46b60bbc8c03d32a607ac6063275727532fe5a	@DISEASE$ (ALF) produces cerebral dysfunction and @PHENOTYPICFEATURE$, mediated in part by elevated ammonia concentrations, often leading to coma and death.	false
+3ad7f99c65af12d5520a236a173ac30ee91d6808	A 37-year-old woman with breast cancer, @DISEASE$, an hamartomatous intestinal polyp, papillomatosis of the tongue and @PHENOTYPICFEATURE$ was diagnosed with Cowden's syndrome.	false
+d5541969778592a2b1252cfdc735b7c7f13af701	@DISEASE$ is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, defective growth of the cranial bones along with complete or partial absence of the clavicles (cleidocranial dysplasia), characteristic facial features, and/or abnormalities of the fingers and/or toes.	false
+4d45db6298331070805294acece91a4a317ba5cb	The oculocerebrorenal syndrome of Lowe (@DISEASE$) is a rare X-linked disorder characterized by @PHENOTYPICFEATURE$, congenital cataracts and renal Fanconi syndrome.	false
+2e4c55fd219b43c1f9b7b3b11f2891003e454693	The @DISEASE$ (OCRL) is a rare X-linked disorder characterized by @PHENOTYPICFEATURE$, congenital cataracts and renal Fanconi syndrome.	false
+0a71fd764543b0af3afd8b9b22f4a63de3c25733	Lowe oculocerebrorenal syndrome (@DISEASE$) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, areflexia, mental retardation, maladaptive behavior, renal tubular dysfunction, vitamin-D-resistant rickets, and scoliosis.	false
+c88cde8156295d18893ca9026b5310bd3df16b42	@DISEASE$ (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, areflexia, mental retardation, maladaptive behavior, renal tubular dysfunction, vitamin-D-resistant rickets, and scoliosis.	false
+e88d6f441742522e686dbcb74e8c55b7663366a2	We found that younger patients, those with higher education level, those who were employed, and with @DISEASE$ progression and lower @PHENOTYPICFEATURE$, had better HRQoL.	false
+6a6d494062206bf41c1b2c0c43b90f4499619ff0	Analogies with the Lowe-Terrey-Mac-Lachlan @DISEASE$ (hyperaminoaciduria, psychomotor retardation and @PHENOTYPICFEATURE$ with cataract and glaucoma)].	false
+724a6a65e56197bf435788018df86add728e1245	Although it is well known fact that patients with @DISEASE$ have a delay in developmental milestones, @PHENOTYPICFEATURE$ and weakness, no detailed pathologic study to explain the muscle symptoms is available.	false
+fb8d3efeacae2739fbca497d3d3461241b037ca1	The @DISEASE$ (OCRL; McKusick 309000) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, mental retardation, and Fanconi syndrome of the renal tubules.	false
+ccd1448cfab9547de16fd8ac22bf5e8798d8dba6	The Lowe oculocerebrorenal syndrome (@DISEASE$; McKusick 309000) is an X-linked disorder characterized by congenital cataracts, @PHENOTYPICFEATURE$, mental retardation, and Fanconi syndrome of the renal tubules.	false
+4dbdca7986f2deae9d044c264cd9ee1ef23ab275	The Lowe syndrome, or @DISEASE$, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and @PHENOTYPICFEATURE$), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria).	false
+7292aa08ccd2bb7e66d213c4dd54c7af2bd24bb1	The @DISEASE$, or oculocerebrorenal syndrome, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and @PHENOTYPICFEATURE$), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria).	false
+0a1e13fecbfb1a4db603e662afdd3e32aa0969d8	It is postulated that microscarring from neonatal venous sinus thrombosis, history of @PHENOTYPICFEATURE$, and @DISEASE$ are factors predisposing him to epilepsy.	false
+6c985bde0cce99b92e7a83d5a272e87af0f9cae5	A Chinese girl with oculocutaneous @PHENOTYPICFEATURE$ has the @DISEASE$ and a normal karyotype.	false
+2580c91da868b8cc62dd0ed6781d682c0204ac73	[@DISEASE$ and @PHENOTYPICFEATURE$; diagnostic attentiveness advised].	false
+20813d8de17e04b67652651a3e3719d8db0f4d3b	@DISEASE$ (PWS) is a genetic disorder characterised by @PHENOTYPICFEATURE$ obesity, body composition abnormalities and behavioural problems.	false
+620f5b7c30ec1102afbd782cfb351414693d479b	@DISEASE$ (PWS) is characterized by extreme floppiness at birth, impaired sexual development, @PHENOTYPICFEATURE$ over-eating, characteristic physical features and learning disabilities (LD).	false
+55fd0910240871777305487bf89e515ec076af61	In Angelman and @DISEASE$, @PHENOTYPICFEATURE$ occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple.	false
+965a23228c2618deeb506a8cd5417eb9048f030c	Misrouting of retinal fibers was also thought to occur in dissociated vertical deviation, @DISEASE$, and perhaps carrier states of @PHENOTYPICFEATURE$.	false
+e1a7ef1b5ffd784722ce53ab47b5af7a14575e43	Synchrony of oculocutaneous @PHENOTYPICFEATURE$, the @DISEASE$, and a normal karyotype.	false
+faf97f74c994c4b1c0ffd9035979b34c77b85864	Mutations of the P gene within the Angelman/@DISEASE$ critical region at 15q11-q13 cause oculocutaneous albinism type 2. Comorbid oculocutaneous @PHENOTYPICFEATURE$ and Angelman syndrome were suspected and confirmed by cytogenetics.	false
+249bf81847c75dcd75565fd5dfd959a1a0966461	Mutations of the P gene within the Angelman/@DISEASE$ critical region at 15q11-q13 cause oculocutaneous @PHENOTYPICFEATURE$ type 2. Comorbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics.	false
+5afbdc72a9770cf299414b0154e644145507caf6	The aim of the study was to characterize epilepsy, @PHENOTYPICFEATURE$, electrographic features, and brain abnormalities in a large, national cohort of individuals with @DISEASE$ (PWS).	false
+71d7ffc0c6e93b09bdb8f35e766393ce236cd314	Dermatomyositis associated with generalized subcutaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f36c7e110d4ef7f0c633f9655f6289593d93c625	We report the case of a 52-year-old Korean woman who presented with generalized subcutaneous @PHENOTYPICFEATURE$, an erythematous rash, dysphagia, and proximal muscle weakness, and subsequently developed features of @DISEASE$.	false
+b2ba220366e4ff069f344ad1d78e4d49daefa64f	Treatment with high-dose glucocorticoids and an immunosuppressive agent controlled the DM, the generalized subcutaneous @PHENOTYPICFEATURE$, and the @DISEASE$.	false
+3993f3f650e23c0d43cca0248ac7f29b7662a81d	@DISEASE$: @PHENOTYPICFEATURE$ clonality and malignancy-associated large X-chromosomal deletions.	false
+c06c4ecf351cbe0404107cf5197de199cfc81a4a	@DISEASE$ (g-NENs) are a heterogeneous group of @PHENOTYPICFEATURE$.	false
+98355789ebdafe0d4b5a11e567c7c6f74fe9e894	@DISEASE$ (NENs) are a heterogeneous group of @PHENOTYPICFEATURE$ showing different clinicopathological features and behaviour, implying a wide spectrum of therapeutic options.	false
+98355789ebdafe0d4b5a11e567c7c6f74fe9e894	@DISEASE$ (NENs) are a heterogeneous group of @PHENOTYPICFEATURE$ showing different clinicopathological features and behaviour, implying a wide spectrum of therapeutic options.	false
+9fd030bab0c23d7b615e9a8ddf3a79963f1f44ba	Benign glandular downgrowth in @DISEASE$: a potential mimic of composite @PHENOTYPICFEATURE$.	false
+f865f4244ead464d7a8f7ebf173f3e47c30ff24f	@DISEASE$ (gastric carcinoids) are on the rise: small @PHENOTYPICFEATURE$, small problems?	false
+2518dd0f3114cfddd4f23767fe3b9b97914c74b8	@DISEASE$ (NENs) are very heterogeneous, ranging from mostly indolent, atrophic gastritis-associated, type I neuroendocrine tumors (NETs), through highly malignant, poorly differentiated neuroendocrine carcinomas (pdNECs), to sporadic type III NETs with intermediate prognosis, and various rare @PHENOTYPICFEATURE$ types.	false
+c1fd486edb0c125eb5f76d5a7bbbd67c7678ba1f	The @DISEASE$ and duodenum constitute only minority of @PHENOTYPICFEATURE$ in this localisation.	false
+68b6ef2136a147fce4aec7b3a78bfe4bae9c4eb2	Patients with @DISEASE$ exhibit significant motor impairments such as @PHENOTYPICFEATURE$, associated with multiple neuropathological changes including mutant ATXN3 inclusions, marked neuronal loss and atrophy of the cerebellum.	false
+119d85f29dd5a0112c76c46a0b18e4d3cdb121ec	@PHENOTYPICFEATURE$ in @DISEASE$ correlate with hypoperfusion of visual system areas.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+e561233ae343443365ae455b17e5fcea161fb4f7	The majority of @DISEASE$ patients presented with an @PHENOTYPICFEATURE$ as the initial symptom.	false
+f03d5d077a9555024fde4ce0f0a98e0f6b6eb9fe	The aim of the present study was to evaluate the correlation among rCBF, @PHENOTYPICFEATURE$, and olfactory dysfunction in SCA3/@DISEASE$.	false
+19fc0be56cf0d03a081b97023952bc53fbafaed3	Although methotrexate is a highly effective treatment for @DISEASE$, @PHENOTYPICFEATURE$ may be dose-limiting side effects.	false
+d80b95934b0c2dc8cb2ac7fba5cb89048354e3bf	Feverfew has also been used for @DISEASE$, allergies, asthma, tinnitus, dizziness, @PHENOTYPICFEATURE$.	false
+fffa8bc3ba0c4bcf324bec1bb4eb96c38c53ef7f	Pernicious anemia, Crohn disease, ulcerative colitis, @PHENOTYPICFEATURE$ and @DISEASE$ were also associated with cancers at multiple sites.	false
+253b6b9e424af72c873e0040651fc6a8e0ad3807	Hyperhomocysteinemia may play a very important role in many cutaneous and systemic diseases including, chronic cutaneous wounds, @PHENOTYPICFEATURE$, Behcet's disease and @DISEASE$.	false
+45f140469fbc535d1a88c5d0266b30595ef68703	@PHENOTYPICFEATURE$ was associated with the elevated risk of @DISEASE$.	false
+aa68978495ef779121ee7ce1260bc3d36b60390e	p?=?0.002) were found to be independently associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$ and control subjects.	false
+cae72d56906301cfcac4fc3703eb3fc6dcf1fba6	Childhood @PHENOTYPICFEATURE$ was associated with a significantly increased risk of @DISEASE$.	false
+fddfab9b3d9bf513c19c3653f4c148cedef2a7a0	Patients with other liver diseases, @PHENOTYPICFEATURE$, or @DISEASE$ or receiving hemodialysis had rates of infection similar to those in unselected patients.	false
+f9594a02e4f2dc45b1c21cd38a50a467c8f8eae3	Altered inflammatory response characterizes chronic immunemediated inflammatory diseases (IMID) such as rheumatoid arthritis, inflammatory bowel disease, multiple sclerosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+50f7533b1d10311a3c035b9ff855a84b343312a0	Moreover, infliximab treatment has resulted in effective suppression of ankylosing spondylitis, @DISEASE$ and @PHENOTYPICFEATURE$ in patients with refractory uveoretinitis due to Beh?et's disease.	false
+274872008ee9cd037049812ce624cc288445282f	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and subclinical impairments in cognitive ability.	false
+5d508aa50fd84ab03b87024f5ee8c93f660d5965	A 22 year-old Saudi patient is reported who had Darier-White disease (@DISEASE$), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, @PHENOTYPICFEATURE$, epilepsy, cataract and corneal opacities.	false
+fa999d0ba7a6dd4a77b440a2b2077e9f3e64d199	A 22 year-old Saudi patient is reported who had @DISEASE$ (Keratosis follicularis), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, @PHENOTYPICFEATURE$, epilepsy, cataract and corneal opacities.	false
+d88a3a5babf76a8a1deac5a3d2799106d8941c57	[Familial @DISEASE$ and @PHENOTYPICFEATURE$ in mother and her two sons].	false
+c9a1995da256cfb392b1915ecb8cfd9c9bd8a6ec	To examine the risk of @PHENOTYPICFEATURE$ and subclinical impairments in cognitive ability in @DISEASE$.	false
+d383ba6b3711c0c559cbcdcc5e7a340e2c860e33	For conscripted individuals with @DISEASE$ but no diagnosed @PHENOTYPICFEATURE$, mean cognitive ability scores were about half a standard deviation lower than for comparison subjects.	false
+2dfe4cd7ccb317a7bdab5aa3bc9ecfc914e69446	A 36-year-old female developed bone marrow failure diagnosed as @DISEASE$ (MDS) (Sidebar), followed shortly by a @PHENOTYPICFEATURE$ and a gait disturbance.	false
+2bf9c9d3d525129dc95b522630a1a6d64378d94f	A 36-year-old female developed bone marrow failure diagnosed as myelodysplastic syndrome (@DISEASE$) (Sidebar), followed shortly by a @PHENOTYPICFEATURE$ and a gait disturbance.	false
+6972b77d134600b41bec6c217ea1c5ffed8523f9	The syndrome of ataxia-pancytopenia is an autosomal dominant disorder characterized by cerebellar ataxia, @PHENOTYPICFEATURE$, pancytopenia and a predilection to @DISEASE$ and acute myeloid leukemia.	false
+6bd7e71af9892873cdfcf46ebdbd28abda093684	A 72-year-old immunocompromised man with @DISEASE$ who developed multiple @PHENOTYPICFEATURE$, scaly abscesses like lesions on his left foot and lower leg is described.	false
+6349fd3c1d06a28825e15b42b02f57b88623b3df	Neither the prevalence of @PHENOTYPICFEATURE$ nor its association with fatigue and overall survival (OS) are well understood for patients with myelodysplastic syndromes (@DISEASE$).	false
+34041f19e4bfe4f038f0894ebfa128a48ef3d274	Serum Epo titer was inversely correlated with hemoglobin concentration in iron deficiency anemia, aplastic anemia, myelodysplastic syndromes (@DISEASE$), acute leukemia, malignant lymphoma, multiple myeloma and @PHENOTYPICFEATURE$, but there was no correlation between serum Epo titer and hemoglobin concentration in chronic myelogenous leukemia or polycythemias.	false
+d0737842e643a72eb999f07b5972d92509fc1d29	Here, we describe a case of catheter-related T. asahii bloodstream infection with multiple septic @PHENOTYPICFEATURE$ in both the arms and legs of the patient who was in the neutropenic period after allogeneic stem cell transplantation for @DISEASE$ treated with prophylactic ciprofloxacin and itraconazole.	false
+9b0e567d37229aa2114dab0a2311b475ebff344d	Skin @PHENOTYPICFEATURE$ with leukocytoclastic vasculitis and elastophagocytosis as the presenting features of an underlying @DISEASE$.	false
+ab49d34dc051b2423fb6e76aec46d5ec226c3c09	Clinicians should aggressively evaluate patients with fever and @DISEASE$ for infection, especially pneumonia and @PHENOTYPICFEATURE$.	false
+14a7b333ea11f42fc95e258215677b1289faf21a	A 63-year-old Japanese man with @DISEASE$ was admitted to our hospital because of a large @PHENOTYPICFEATURE$ on his neck in November 2001.	false
+2a2a364f0004aff38c279fda0cfcd50d6dac004b	Profound @PHENOTYPICFEATURE$ with bone involvement due to Nocardia asteroides in a patient with @DISEASE$.	false
+310d6caf11c9526961921230ca42b94aa0cfa946	@DISEASE$ in a patient with congenital @PHENOTYPICFEATURE$.	false
+68741faaaf53f460a22e402dd8affdf749958ba7	The authors report @DISEASE$ in a patient with congenital @PHENOTYPICFEATURE$.	false
+2a8ddb7ec3ad3fcd73edd9a63ef7c60be1a1a0e3	For example, a large rib mass in a child with @PHENOTYPICFEATURE$ and malaise indicates a @DISEASE$, a mass with a calcified matrix is likely a chondrosarcoma or osteosarcoma, and a pulmonary artery mass is likely a leiomyosarcoma.	false
+5c33955d1cd298e5bf012749fb080ab58e6f7366	In this article, a 16-year-old girl with dominant @PHENOTYPICFEATURE$ and @DISEASE$ is described.	false
+554f43ce3281561a2a575ec072b1e172bab809f8	We hereby report a case of metastatic @DISEASE$ presenting with rapid-onset total ophthalmoplegia, @PHENOTYPICFEATURE$, and right temporal hemianopia.	false
+eed5b3c0f0e113aa4f65a95363b6eacc056ff3da	A young man undergoing chemotherapy for @DISEASE$ presented with @PHENOTYPICFEATURE$, neutropenia, anemia, thrombocytopenia, and a new infiltrate on the chest roentgenogram.	false
+91ebdfd0189ba3fad0393e45561d811b8e1fd9d4	SHOX haploinsufficiency has been demonstrated in @DISEASE$ (LWD), a skeletal dysplasia associated with @PHENOTYPICFEATURE$, as well as in a variable proportion of cases with idiopathic short stature (ISS).	false
+d9e6fa6a2a4059a50c64711f0e53b81eeea9e005	Children were enrolled in 38 French pediatric endocrinology centers and were either diagnosed with @DISEASE$ (LWS), idiopathic short stature (ISS), or @PHENOTYPICFEATURE$ (DSS).	false
+45f35ded5cc8cc70128df1cda52937f3640ba918	SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as @DISEASE$ (LWD), Turner syndrome, and @PHENOTYPICFEATURE$ (DSS).	false
+be2ba7e984b58a02e12965493569575447c39b23	@DISEASE$ (LWD) is a pseudoautosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and a characteristic curving of the radius, known as the "Madelung deformity."	false
+edfd351eb77920657c82fb1484ad56ba26316622	SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as @DISEASE$ (LWD) and @PHENOTYPICFEATURE$ (DSS).	false
+ef8d16f60712e553336952411da367b7af5db9cc	A 60-year-old man with nephrotic syndrome and @PHENOTYPICFEATURE$ was found to have a @DISEASE$-lambda myeloma.	false
+7bb862d258f7fbb33b092287768fe6b86a92ed29	A 21-year old male patient with isolated @PHENOTYPICFEATURE$ (@DISEASE$) is described.	false
+9ff5acc5f47f94914e5326d41a31a590165ee809	Severe @PHENOTYPICFEATURE$ was associated with advanced myeloma stage and light-chain/@DISEASE$ paraproteinaemia.	false
+358f3a22f563a2b1d2d09745172d974048963c89	@PHENOTYPICFEATURE$ (@DISEASE$) and constitutional delayed puberty (DP) share a common pathophysiologic process, i.e.	false
+7c335f03dd6dda6b8fda3741fbcca9a22c0d6bb4	[Maintenance hemodialysis in @DISEASE$- lambda -type multiple myeloma associated with severe @PHENOTYPICFEATURE$].	false
+ce3071bf7e5dd944fdca42610e5def2069242406	More than 50% of patients with @DISEASE$ had arthralgia or @PHENOTYPICFEATURE$, and less commonly other rheumatic disorders.	false
+b53df18097022998f8e8e13535c53ef2076955e2	Unilateral hyperhidrosis associated with intrathoracic @DISEASE$ lambda myelomatous @PHENOTYPICFEATURE$.	false
+3c2c7d8afe4866eab3b47ca355eb74fd2a398abc	We herein report a case of @DISEASE$ myeloma presenting with @PHENOTYPICFEATURE$ and bicytopenia.	false
+e936fc66d954ab0b3e39984d1d70d9622ccc6537	Male patients with @PHENOTYPICFEATURE$ (@DISEASE$, n = 6), constitutional delayed puberty (DP, n = 6), and Klinefelter's syndrome (KS, n = 5) before and during testosterone replacement therapy were studied.	false
+948e340290e5127525048dd87faddda0d013a4f0	We found that @DISEASE$ myeloma was associated with higher frequencies of anaemia, @PHENOTYPICFEATURE$, and hypercalcemia and higher levels of serum LDH compared with non-IgD myeloma.	false
+980963c9749b790fad413705a680669641766817	We found that IgD myeloma was associated with higher frequencies of anaemia, @PHENOTYPICFEATURE$, and hypercalcemia and higher levels of serum LDH compared with non-@DISEASE$ myeloma.	false
+7e3c1ec40c436abc73a44e705bf5eb9556bdbcfd	A case of @PHENOTYPICFEATURE$ associated with partial @DISEASE$.	false
+ce6beefac84bdfe5feddfc86259d44db750e5bad	We report a male individual with partial @DISEASE$ and severe mental retardation, who met ICD-10 criteria for @PHENOTYPICFEATURE$.	false
+2e7389cc4b355478415ace07773c1500f82dc293	@DISEASE$ (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and @PHENOTYPICFEATURE$ and hypothalamic hypogonadism.	false
+25cfc0442d9c6848d931aa4f909ac88e1637882e	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), @DISEASE$, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome.	false
+76738a7296caccfcdcc938bcaecd74198bf91860	The long-term relationship between @PHENOTYPICFEATURE$ and sleep apnoea in @DISEASE$ (DM1) is unknown.	false
+5a75e93852ba8d7ef12688505cf000a964629654	@DISEASE$ is a genetic muscular disease that is frequently associated with @PHENOTYPICFEATURE$.	false
+ba0cf39683324674b90a247c1b3f392646102284	@DISEASE$ is a rare genetic disorder characterized by @PHENOTYPICFEATURE$ and weakness.	false
+d54c07316d1e9fe2070e322e1faa60b6c9a034ce	@DISEASE$ is an autosomal dominant disease that shows myotonia, progressive @PHENOTYPICFEATURE$, and other various symptoms.	false
+07b3d98d34df9c7848b4080e66c045b8df772587	[A case of @DISEASE$ resembling early stage @PHENOTYPICFEATURE$].	false
+4af689a047dd1865807dafd6c2d878b9520794b8	We present a?case of @DISEASE$ type?I and its complications including cholangitis and @PHENOTYPICFEATURE$.	false
+f97a5f1cf8771552596f01164bc3b7ddd679a758	Relationship between @PHENOTYPICFEATURE$ and sleep apnoea in permanently paced patients with type I @DISEASE$.	false
+ad35659a597b7c1f7e92a35706d63db4b85b82d3	@DISEASE$ (MyD) is a multisystemic disorder characterized by @PHENOTYPICFEATURE$, myotonia and cataract.	false
+9792a43d41456ffe37ad817e8685ed592f1fca9f	To describe mental retardation and @PHENOTYPICFEATURE$ as initial clinical signs in @DISEASE$ (MD) with high trinucleotide repeats.	false
+9b2d9dad8b0e4a282f9c3b8da4eb70be56f2035b	Left ventricular dysfunction and @PHENOTYPICFEATURE$ are frequent in type 2 @DISEASE$: a case control study.	false
+1e7c9b1e8c9961916b83ea406920d027c2ddf07c	It is involved in ocular diseases, including keratoconus, Fuchs endothelial corneal dystrophy, and @DISEASE$, @PHENOTYPICFEATURE$, age-related macular degeneration, primary open-angle glaucoma, retinal light damage, and retinopathy of prematurity.	false
+b1b9e18a6ebaa26a43f2722f5dbc3c5d4f173df9	The purpose of this study was to evaluate visual function and postoperative refractive errors in patients with @DISEASE$ (GCD2) and cataracts who underwent photorefractive keratectomy (PRK) instead of phototherapeutic keratectomy (PTK) following cataract surgery to avoid PTK-induced central island formation and reduce refractive errors after @PHENOTYPICFEATURE$ surgery.	false
+f1728f3035eec52257d112714dcc3b816780dcd2	The purpose of this study was to evaluate visual function and postoperative refractive errors in patients with @DISEASE$ (GCD2) and @PHENOTYPICFEATURE$ who underwent photorefractive keratectomy (PRK) instead of phototherapeutic keratectomy (PTK) following cataract surgery to avoid PTK-induced central island formation and reduce refractive errors after cataract surgery.	false
+6d0b166f0eea9d0fad8ead0ea6193e0e1026bca4	The purpose of this study was to evaluate visual function and postoperative refractive errors in patients with @DISEASE$ (GCD2) and cataracts who underwent photorefractive keratectomy (PRK) instead of phototherapeutic keratectomy (PTK) following @PHENOTYPICFEATURE$ surgery to avoid PTK-induced central island formation and reduce refractive errors after cataract surgery.	false
+8c675f2accc8daa1d06410f7f730c018c720eb2f	Ocular contraindications to LRS include unstable refractive error, corneal ectatic disorders, a history of herpetic keratitis, @DISEASE$, significant @PHENOTYPICFEATURE$, and uncontrolled glaucoma.	false
+89856bce1fbffc00405e07d531997bfd1125472a	Intraocular lens power calculations for @PHENOTYPICFEATURE$ surgery after phototherapeutic keratectomy in @DISEASE$.	false
+b37e85943f177d7e56da85500106884e7bb85051	@DISEASE$ or first division trigeminal neuralgia associated with @PHENOTYPICFEATURE$.	false
+adfad51a235ca82e250f6d3bba5c5201ba365fa5	@DISEASE$, a rare form of primary headaches, may be secondary to pituitary @PHENOTYPICFEATURE$.	false
+f1c2dd5ba02cf0d1fe8d7c38c3c8983d15c36405	In this paper the authors present a patient with a growth hormone-secreting pituitary adenoma who experienced resolution of @DISEASE$ after transsphenoidal @PHENOTYPICFEATURE$ resection.	false
+a87b147645c355fd005bacfc53a4321a8c641c64	[@DISEASE$ and @PHENOTYPICFEATURE$ in the central nervous system.	false
+5fd114b52c90255a817f890426322c573d66570c	Shortlasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing (@DISEASE$) and @PHENOTYPICFEATURE$ of the cavernous sinus.	false
+462db39a59cf305e978561065682ecda02ff1189	These features include: histologic confusion with desquamative interstitial pneumonitis, diffuse @DISEASE$, @PHENOTYPICFEATURE$ pneumonia; cysts filled with air and/or fluid; radiographic onset in the eighth decade of life; intratracheal mass; and focal parenchymal consolidation.	false
+1e135905e24128a4b4d74258589bf83df3ecf5ab	A case of malignant lymphoma @DISEASE$ in a 42-year-old woman who had bilateral @PHENOTYPICFEATURE$ and vitreitis and neurologic manifestations is reported.	false
+cf0a0317166a4f8007bbc4801842369723efa616	A more precise classification instead of the diagnosis 'reticulosarcoma' and '@DISEASE$ cell @PHENOTYPICFEATURE$' is required, and the use of the term 'hairy cell' leukemia is suggested stead of the misleading term 'leukemic reticuloendotheliosis'.	false
+ea5aefad7f082164bc2fcc8b45c773838e1b2b44	A more precise classification instead of the diagnosis '@DISEASE$' and 'reticulosarcoma cell @PHENOTYPICFEATURE$' is required, and the use of the term 'hairy cell' leukemia is suggested stead of the misleading term 'leukemic reticuloendotheliosis'.	false
+41bf22018fcf802a402d118cab87ad4d33098d95	Cytochemical and electron-microcopic studies have been carried out on leukemic monocytes and 'hairy cells' (HC), '@DISEASE$' (RS) cells and cells of cases of 'reticulosis' and 'reticulosarcoma cell @PHENOTYPICFEATURE$'.	false
+8bf011acf9a520ee4ad91a1e2e48a9b1464c73c1	Cytochemical and electron-microcopic studies have been carried out on leukemic monocytes and 'hairy cells' (HC), 'reticulosarcoma' (RS) cells and cells of cases of 'reticulosis' and '@DISEASE$ cell @PHENOTYPICFEATURE$'.	false
+7046b5445b42844df9ebf9036efc6d368385a910	@DISEASE$ associated with generalized neurodermatitis (atopic), atopic @PHENOTYPICFEATURE$ of the left eye and dermatopathic lymphadenitis, considerably improved by treatment with potassium paraaminobenzoic acid (KPAB).	false
+f16408d2901c021f1c6891066d9cf303ab8a33a5	@PHENOTYPICFEATURE$ and hyperleptinemia may therefore partially explain the adiposity association with @DISEASE$ in postmenopausal women.	false
+a858eb96f0871205111b146cac5aabc34de682ea	We describe a 56-year-old male with metastatic @DISEASE$ treated with oxaliplatin and capecitabine who developed a rapidly ascending motor and @PHENOTYPICFEATURE$, which rendered him wheelchair-bound.	false
+5e37800a198c873a8f3a4b66438e6e585700fe6d	This study has attempted to assess the effectiveness of quantitative faecal immunochemical tests (FIT) for triage of people presenting with lower @PHENOTYPICFEATURE$, where a referral to secondary care for investigation of suspected @DISEASE$ (CRC) is being considered, particularly when the 2-week criteria are not met.	false
+ed0aa5ad7a79ec14a55432eb6ddccea768c688cd	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, LS @PHENOTYPICFEATURE$, and sporadic @DISEASE$ from TCGA.	false
+624270ea92e232c1a421fe51a00803a220b6c548	Our findings are supportive of the hypotheses that glucose metabolism @PHENOTYPICFEATURE$, insulin resistance, and metabolic abnormalities associated with it may play a significant role in the etiology of @DISEASE$.	false
+4ded3801f07a8b0d39438b1da74f21babdf17a2f	In a group of 30,676 @DISEASE$ patients who received surgery, 5230 had mild @PHENOTYPICFEATURE$ (<?35 and?>?=30?g/L) and 21,310 had normal albumin levels (>?=?35?g/L).	false
+0e4328411bb4c52401f4e9a66b7b1b44bb177bba	Patients with familial adenomatous polyposis who undergo surgery to prevent @DISEASE$ experience various @PHENOTYPICFEATURE$ that may affect their physical and mental health.	false
+ecd2bab1c51d2f087101374e1318403d4219c801	Since @PHENOTYPICFEATURE$ is implicated in the development of @DISEASE$, determinants of serum insulin levels, like the glycemic load and the glycemic index of the diet, could influence cancer risk.	false
+053124c00e696e0410ae9fd488b028d22959c1a6	Intense diagnostic effort and treatment aimed at mild @PHENOTYPICFEATURE$, encouraged by some patients and some medical care settings, could increase the detection and removal of gallstones and the early detection of @DISEASE$.	false
+a71982be206420e2669a9c4908c4ef1b26c13357	diarrhoea of various origin, irritable bowel syndrome, inflammatory bowel disease, allergies, @PHENOTYPICFEATURE$, bacterial vaginosis, and @DISEASE$, is increasing.	false
+e770abc6ab4a743851c07f68f9e63c5bcbd666fb	A case of @DISEASE$ with hypoalbuminemia and @PHENOTYPICFEATURE$.	false
+300cad8139be9be0aacf8a4bbf67f4db3c618ef3	The main causes of visual loss were congenital and early onset degenerative eye disease (@DISEASE$%, @PHENOTYPICFEATURE$ 10%).	false
+5707912435543279457a8e676cf096e8781d372c	@DISEASE$ (DM1) has been associated with an increased risk of sudden death, either by heart block or malignant @PHENOTYPICFEATURE$.	false
+e012a27b7176bf1a592149b9a10df7fc4a436a1c	Cardiac involvement in classical Steinert muscular dystrophy (@DISEASE$, MD1) is characterised by atrial arrhythmias, AV conduction disturbance, @PHENOTYPICFEATURE$ and heart failure.	false
+2c1c6af62010f9a892b89b59f4ca99729b335c24	This article presents a patient with @DISEASE$ who had @PHENOTYPICFEATURE$, hypotonia, talipes, feeding and respiratory difficulties in the neonatal period and later presented to us with developmental delay and had percussion myotonia.	false
+bc1cacf9e545dfe123387e90233497130bb15f7a	Auditory and @PHENOTYPICFEATURE$ are quite common in patients with @DISEASE$.	false
+79b48f3a4433701eef7037ea84d7cda6060c2765	Mortality was higher in those with DM and was related to treatment status: multivariate adjusted hazard ratio during a median follow-up period of 78?months was 1.41 (95% CI 1.11 to 1.80, p?= 0.006) for diet only-treated @DISEASE$.63 (95% CI 1.51 to 1.77, p <0.001) for DM treated with oral @PHENOTYPICFEATURE$, and 2.50 (95% CI 2.20 to 2.85, p <0.001) for DM requiring insulin therapy.	false
+ad6a60d963c5717003a5df54204c7e66fb667a16	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (@DISEASE$), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+f2f6d32e19089c674aa7c437c73adb91dd47ee58	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as @DISEASE$ (ASPED), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+4c611f03ca291ba6bbd60d13820575f27a8bf865	Therefore, the patient was diagnosed with distal-type cervical @DISEASE$ @PHENOTYPICFEATURE$ complicated with Dupuytren contracture.	false
+6548b2e7b26139e5775c1e221588d0fff8a4dae6	@PHENOTYPICFEATURE$ patients present with @DISEASE$, demonstrated a significantly higher frequency of delay in language development as compared with cleft palate patients present with VPI without CAD.	false
+98009916470da12721901c90506e35a55c5cb1ce	Cleft palate patients present with CAD, demonstrated a significantly higher frequency of delay in language development as compared with @PHENOTYPICFEATURE$ patients present with VPI without @DISEASE$.	false
+e5d96399f76f3aa504f64303544cf13ba87217d2	Cleft palate patients present with @DISEASE$, demonstrated a significantly higher frequency of delay in language development as compared with @PHENOTYPICFEATURE$ patients present with VPI without CAD.	false
+de7b95b2ba9e5a9ea8c3210a360c4c5856bfc2d1	@PHENOTYPICFEATURE$ patients present with CAD, demonstrated a significantly higher frequency of delay in language development as compared with cleft palate patients present with VPI without @DISEASE$.	false
+5ea9a54c74f8d266a7a6b5dd8d2cd17ffe0ee25f	To compare two modalities of speech intervention (SI) in @PHENOTYPICFEATURE$ children with compensatory articulation disorder (@DISEASE$).	false
+33ef506e07dedba054ee09258b21bf6a2d6100be	Naturalistic based SI did not reduce the time necessary for correcting @DISEASE$ in @PHENOTYPICFEATURE$ children.	false
+caa2a6fa81c9a1e21e9f976d71a6b9124544368c	A matched control group of 45 children with repaired @PHENOTYPICFEATURE$ who also exhibited @DISEASE$ were identified.	false
+04ddf89eafb7258b7da13cfdbbbfa940e01971f9	Phonologic based SI significantly reduced the time necessary for correcting @DISEASE$ in @PHENOTYPICFEATURE$ children.	false
+e970212cfb370a41f71080e546a6c2e23645797d	Thus, the presence of RBBB does not suggest more severe or extensive @DISEASE$; however, RBBB does predict more left ventricular @PHENOTYPICFEATURE$ abnormalities.	false
+268a806779d62edd8ae20bd3e807630d4ece8e77	The second group was assembled with 29 @PHENOTYPICFEATURE$ patients with residual VPI without @DISEASE$, matched by age and sex (control).	false
+5eb26d1241f79ac34f5e7c82164e97c71f580eb7	Compensatory articulation disorder (@DISEASE$) severely affects speech intelligibility of @PHENOTYPICFEATURE$ children.	false
+5ea9a54c74f8d266a7a6b5dd8d2cd17ffe0ee25f	To compare two modalities of speech intervention (SI) in @PHENOTYPICFEATURE$ children with compensatory articulation disorder (@DISEASE$).	false
+9ef5f58d6ab1a71dfa8282e188163f9bcf0bad3d	Patients with @PHENOTYPICFEATURE$ (PCP) frequently show compensatory articulation disorder (@DISEASE$).	false
+fc3f77bddcdf66a304697f90d46b4e1382ca3afa	AFA identifies young SSc patients with frequent internal organ involvement, especially pulmonary @PHENOTYPICFEATURE$, @DISEASE$ and renal disease.	false
+42e9204f3bd4921811aef4fd8815cd1078414c04	MRI can assist in 'pattern recognition' of muscle involvement across numerous @PHENOTYPICFEATURE$, including @DISEASE$.	false
+1b7000b172a1e458150402c1ab4fa453bde161c4	Cutaneous direct immunofluorescent findings were examined in 78 patients who had either vascular @PHENOTYPICFEATURE$ (group 1, 52 patients) or scleroderma with features of @DISEASE$ or lupus erythematosus (group 2, 26 patients).	false
+59b27817b862036614aeb4e50601e2db410a6cd4	Findings of the electrophysiological examinations were consistent with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+400ce6954537a53889f643d3b6100cb6843a09a5	A 61-year-old man with early diffuse cutaneous @PHENOTYPICFEATURE$ with @DISEASE$ and progressive interstitial pneumonia developed generalized erythema with high fever 3 weeks after taking sulfamethoxazole/trimethoprim.	false
+0aa0c9a0e2718ad3a8c041d47c4beb02aae2981a	Patients having ACA, CENP-A, and/or CENP-B resembled each other and differed from the remainder of the cohort in the following respects: older chronologically and at disease onset; more commonly women; more likely to have limited disease and lower skin scores; less likely to have finger ulcers, digital tuft resorption, or finger contractures; more likely to have pulmonary hypertension; less likely to have interstitial lung disease, @PHENOTYPICFEATURE$ renal crisis, inflammatory arthritis, and inflammatory @DISEASE$; and having lower overall disease severity.	false
+bad530af673cd684ee5a0517f4955b6dd8e33dc7	About 10-15% of the patients with acute symptoms developed a chronic disease with @PHENOTYPICFEATURE$-like skin manifestations, polyneuropathy and @DISEASE$.	false
+e1ec5c881f576a4b11310b0ecf5fe472ee1b9ff9	Camptocormia is most frequently encountered in @PHENOTYPICFEATURE$ (PD and dystonia) and muscles diseases (@DISEASE$ and myopathy, mainly facio-scapulo-humeral muscular dystrophy (FSHD)).	false
+aa8b663ec1ac0d2cef82d713d3aa64d5070736b4	Such manifestations include lupus nephritis, CNS lupus, ARDS, massive alveolar hemorrhage, @PHENOTYPICFEATURE$ renal crisis, pulmonary hypertension, severe @DISEASE$, and diffuse vasculitis.	false
+454f17fee4906ac303bafc83a0d529d50f9a9b9e	Such manifestations include lupus nephritis, CNS lupus, ARDS, massive alveolar hemorrhage, scleroderma renal crisis, pulmonary @PHENOTYPICFEATURE$, severe @DISEASE$, and diffuse vasculitis.	false
+0a793e3c7c5e2b88d9f551264dd277564d198215	Camptomelic dysplasia (@DISEASE$) is a congenital @PHENOTYPICFEATURE$ skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+434d350bf68cd2f41712a3c08cd0e7b023f0a139	Mutations within the FKRP gene can result in @DISEASE$ associated with mental retardation and @PHENOTYPICFEATURE$.	false
+56e7df1fdcd22103c1919e802790f0686531c3db	These patients constituted a particular form of @DISEASE$ with a combination of severe motor delay, mental retardation, partial merosin deficiency and @PHENOTYPICFEATURE$.	false
+bf4540bfbb76fe504728cfaa92972717abec2ca4	Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and @DISEASE$ with severe mental retardation and @PHENOTYPICFEATURE$ are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system.	false
+604d3f6d4f9d58079bf0dd083f5e258bed3204d6	Walker-Warburg syndrome, @DISEASE$ with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and @PHENOTYPICFEATURE$ are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system.	false
+5630871387bc33ec183929a27439abeba479a4e5	Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and @PHENOTYPICFEATURE$ are nosologically distinct and have been excluded from the known @DISEASE$ loci with structural changes of the central nervous system.	false
+0d1e9c073eb527b1665344b409e0ee88403e0097	We report a patient with @DISEASE$ (CMD), developmental brain defects, and @PHENOTYPICFEATURE$.	false
+395304416078dd56595ab8ea6f642e7ceb43b8aa	We report a patient with congenital muscular dystrophy (@DISEASE$), developmental brain defects, and @PHENOTYPICFEATURE$.	false
+7d334ae0dff05be9e6e463e29e25e2701909e6c8	Merosin-deficient @DISEASE$ with mental retardation and @PHENOTYPICFEATURE$ unlinked to the LAMA2, FCMD and MEB loci.	false
+6133ef43dfbaf961bc13614029a12d5023fdd431	Diffuse white matter changes on brain imaging and @PHENOTYPICFEATURE$ are associated features of merosin-deficient congenital muscular dystrophy (@DISEASE$).	false
+aa2d0490df24127b75fef6ed7bb5abb770778460	Diffuse white matter changes on brain imaging and @PHENOTYPICFEATURE$ are associated features of merosin-deficient @DISEASE$ (CMD).	false
+1a85d34aaed902df57adeedd6719e59bdb44c4cf	Merosin-deficient @DISEASE$ with mental retardation and @PHENOTYPICFEATURE$, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.	false
+02fcf1320db26e7ff68a19720e2e4e16238b2d2e	FKRP gene mutations cause @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+717f2d1d7dc8fbd000212bb302dc9cfe7ecdbefd	We report three Tunisian patients affected by @DISEASE$ with mental retardation and @PHENOTYPICFEATURE$ on cranial magnetic resonance imaging.	false
+cba9fec7bb936e4c0adb415b0a48aa3ebf7d8f05	This rare cause of @PHENOTYPICFEATURE$ is examined, and @DISEASE$ and angioedema are reviewed.	false
+7333340449ae832e8241aca7216aeff5b6f2ffd8	Hereditary angioedema (HAE) due to @DISEASE$ is clinically characterized by relapsing skin swellings, @PHENOTYPICFEATURE$ attacks, and life-threatening upper airway obstruction.	false
+aa1d6ce96f7b9b4df596fd8c2976247a9fe5bf43	Hereditary angioedema due to @DISEASE$ (C1-INH-HAE) is a rare autosomal dominant disease characterized by recurrent life-threatening oedemas and/or @PHENOTYPICFEATURE$ and caused by mutations affecting the C1 inhibitor gene, SERPING1.	false
+7333340449ae832e8241aca7216aeff5b6f2ffd8	Hereditary angioedema (HAE) due to @DISEASE$ is clinically characterized by relapsing skin swellings, @PHENOTYPICFEATURE$ attacks, and life-threatening upper airway obstruction.	false
+a7ed65462ed881a2e4151159e80238bcf87314e7	Hereditary angio-oedema due to @DISEASE$ (HAE-C1-INH) is a rare inherited disorder characterised by recurring and debilitating episodes of cutaneous swelling and @PHENOTYPICFEATURE$ and less frequent episodes of laryngeal oedema.	false
+9a8fe313b1cdb4ae0ada6ecf1ac31eeb85382982	Hereditary angioedema due to @DISEASE$ (HAE-C1-INH) is characterized by relapsing skin swellings, @PHENOTYPICFEATURE$ attacks, and, less frequently, potentially life-threatening laryngeal attacks.	false
+60e44f0ac88f019366def6408ee6ee754ab79b69	Chronic sinusitis, mild @PHENOTYPICFEATURE$, severe obstructive impairment and the pathological findings of bronchiolitis led to a diagnosis of sinobronchial syndrome caused by @DISEASE$.	false
+91a8825f54e924d95c4a1ce14f4a927cf70dcc69	The main features of the @DISEASE$ are syndactyly, pre-axial @PHENOTYPICFEATURE$, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel.	false
+40f638022cb092f988762c51cabfcaa7428bc987	Atrial septal defect (@DISEASE$) is one of the commonest @PHENOTYPICFEATURE$ in children.	false
+b0fee9495a776918fc8a9bd899b09da02e743a0c	@DISEASE$ (ASD) is one of the commonest @PHENOTYPICFEATURE$ in children.	false
+6cf78ccf969114ef8c18b3fdce2bebd5f1b80bef	Atrial septal defect (@DISEASE$) is one of the most common congenital @PHENOTYPICFEATURE$.	false
+ed3545252d151f6283ca79a98a6f9ae68bf1470c	@DISEASE$ (ASD) is one of the most common congenital @PHENOTYPICFEATURE$.	false
+90affa15daa3bf0fbc1e0ba225eb5f911b05ad74	The most common associated anomaly is @PHENOTYPICFEATURE$, with @DISEASE$ being the most common cardiac anomaly.	false
+ffa59df6c3561b313f876deae0f211772db59b71	The most common associated anomaly is cardiac anomaly, with @DISEASE$ being the most common @PHENOTYPICFEATURE$.	false
+6ae168feb51e9cdd1b6b4258b3b1ec57bde98f79	To identify novel genes associated with ASD and abnormal head circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with @DISEASE$ and @PHENOTYPICFEATURE$ circumference.	false
+72a19e829347de2baa9af2756023a1d40368f186	To identify novel genes associated with @DISEASE$ and @PHENOTYPICFEATURE$ circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with ASD and abnormal head circumference.	false
+da6808e8e7fdcebe0c5b1f05bcff8ce752ba23d1	To identify novel genes associated with ASD and @PHENOTYPICFEATURE$ circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with @DISEASE$ and abnormal head circumference.	false
+e66907bee9df30b7ac35258cd68aa7e6a73c9668	To identify novel genes associated with @DISEASE$ and abnormal head circumference using a phenotype-to-genotype approach, we performed whole-exome sequencing on 67 families with ASD and @PHENOTYPICFEATURE$ circumference.	false
+345111dd10c167a81ee4790515846cd6c1e95ce7	Our data highlight 16q24.2 as a region of interest for @DISEASE$, ID and congenital @PHENOTYPICFEATURE$.	false
+62c59b14f11f190b3d3513508fa6fc66b961a6fa	@DISEASE$ (ASD) is a common @PHENOTYPICFEATURE$.	false
+6e932e006214250d7575f996460fe923c4c22267	Atrial septal defect (@DISEASE$) is a common @PHENOTYPICFEATURE$.	false
+8feb28649d7834a74423cd2b6dc130c1501a6703	The last patient had borderline LV with large atrial septal defect (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+848e5e629b7cac118e52e09f9744e5f9314b6c66	@DISEASE$ (ASD) is a common congenital @PHENOTYPICFEATURE$.	false
+7968630f163eaca4f8c64f5a718b11d860b17ac3	Atrial septal defect (@DISEASE$) is a common congenital @PHENOTYPICFEATURE$.	false
+f56e64d1e2a8938491ebe664ad2c2f6fd53d7faf	Atrial septal defect (@DISEASE$) is the most frequent @PHENOTYPICFEATURE$ observed in adulthood.	false
+47f2dfa2d7c32e51d83f14d7f98a9102bddda41d	@DISEASE$ (ASD) is the most frequent @PHENOTYPICFEATURE$ observed in adulthood.	false
+62c59b14f11f190b3d3513508fa6fc66b961a6fa	@DISEASE$ (ASD) is a common @PHENOTYPICFEATURE$.	false
+6e932e006214250d7575f996460fe923c4c22267	Atrial septal defect (@DISEASE$) is a common @PHENOTYPICFEATURE$.	false
+17453905e32334759abb9c3a9b7c0854fb6ad9c2	[A case of @DISEASE$ complicated with Crohn's disease, @PHENOTYPICFEATURE$ and Hashimoto disease].	false
+289227b99f6d85826087c3940c5456d19c6cd524	We report on an individual with XY @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, growth retardation, and multiple pterygia.	false
+7708835aa0b8be8ab97d976b285935504d0bf8d7	Here, we report on a 46,XY female who presented with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c92809dd9db06e031f59f42519baeaa8ba8e06a2	Essential @PHENOTYPICFEATURE$ in @DISEASE$.	false
+34f08fe981f4c5f0163aa5f7f5f29c5e897ffb26	A foot path to diagnosis: prenatal sonographic identification of dorsal foot @PHENOTYPICFEATURE$ suggests @DISEASE$.	false
+97e690d1b2ec3548662407bc7a0116027a4b347a	The patient presented with @PHENOTYPICFEATURE$, muscular hypotonia, and minor facial anatomic anomalies, all concerning for @DISEASE$.	false
+3d1401223d2f84462b0368afe110774023913a9d	Jugular lymphatic maldevelopment in @DISEASE$ and trisomy 21: different anomalies leading to nuchal @PHENOTYPICFEATURE$.	false
+87de47de4a44ad0b7d30916102bfcce9f2974414	A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d313fa14d3a1386e0028d9e50e6a632e561bf805	A 26-year-old woman, who had had @DISEASE$ from age 10 years old, had diarrhea, fever, @PHENOTYPICFEATURE$, and erythema in the lower left leg.	false
+c97bf0e67b945976bb24f18a28c2ea7a6a4d050a	These findings suggest that @DISEASE$ mosaicism (where there are two abnormal cell lines) is associated with @PHENOTYPICFEATURE$.	false
+c89c9e80959b21c804cf698f8ea08b42fc74c12b	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in Maffucci syndrome were glial; other tumors included pituitary adenoma, olfactory neuroblastoma, malignant @PHENOTYPICFEATURE$, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their Maffucci syndrome counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with @DISEASE$ and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+95e5947170a6ce92e6abf0166755bce45a6f83d3	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in Maffucci syndrome were glial; other tumors included pituitary adenoma, olfactory neuroblastoma, malignant @PHENOTYPICFEATURE$, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their @DISEASE$ counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with Maffucci syndrome and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+adaf7f9cdc3b3fa140c30270d55f24ec1203208d	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in @DISEASE$ were glial; other tumors included pituitary adenoma, olfactory neuroblastoma, malignant @PHENOTYPICFEATURE$, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their Maffucci syndrome counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with Maffucci syndrome and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+430c50373d09b05fcac22da19beff60214526d0f	@DISEASE$ is a disease of unknown etiology causing conductive or @PHENOTYPICFEATURE$.	false
+069682d4cee44a3f6e355a5196a58ec88360cff1	@DISEASE$ is a disease of the bony labyrinth manifesting clinically as a progressive conductive hearing loss, a mixed-type hearing loss, or a @PHENOTYPICFEATURE$.	false
+1d69b7de6ce049d01859d5232e994c7de91b9563	@DISEASE$ is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or @PHENOTYPICFEATURE$.	false
+56ce1bc8adfa33a7587bf34424bc7cfcc8576ec9	We therefore conclude that stapedectomy does not increase the risk of @PHENOTYPICFEATURE$ for patients with @DISEASE$ and Meniere's disease who have bone conduction levels of 35 dB o better at 500 Hz and no high-tone loss, but it is contraindicated for patients with 45 dB at 500 Hz or worse and with high-tone loss.	false
+9aff76874ba690b21ceab587f872bf46e9e3f0c7	@DISEASE$: vestibular symptoms and @PHENOTYPICFEATURE$.	false
+cc8b07c22b2935e7139d6fb80854f66c77473e63	@DISEASE$ is primarily a disease of the otic capsule that progresses slowly from a focus of soft bone to a dense bone, resulting in either a conductive or a @PHENOTYPICFEATURE$.	false
+89cd18b2b59f9156c73e0572ee114e993b3b2eab	@DISEASE$ is a disease of complex unknown etiology causing progressive conductive and/or @PHENOTYPICFEATURE$ (HL).	false
+adb50ac029434821bb36f3fb080759b23b69dc3f	The findings suggest that @DISEASE$ may be an example of an X-linked @PHENOTYPICFEATURE$ syndrome (XLMRS).	false
+fac70cb609dc90b0da8cfb0ef6ac130f5089d474	The results confirmed a stable pattern of @PHENOTYPICFEATURE$, and indicated that @DISEASE$ may be associated with major structural neuro-anatomical abnormalities.	false
+8d21c0cfa6888497b0787dafada387e5174dd297	We report a case of anterior uveitis and unilateral recalcitrant glaucoma in an immunocompromised 6-year-old boy diagnosed with @DISEASE$ who presented with elevated intraocular pressure (IOP), mild anterior uveitis, and unilateral acute @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+19fe117e326160b2a0bc54f0d7b8fcd23e11f46f	@DISEASE$ (WAS) is a rare X-linked recessive trait, characterized by thrombocytopenia, eczema, immunodeficiency and a high risk of malignancy, usually @PHENOTYPICFEATURE$ or lymphoma.	false
+c2594aee3d1c2b299a39567355c82433682e7951	Cord blood has been used successfully for stem cell transplantation in several haematological conditions: Fanconi's anaemia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a9e038f566b11d494b0bb24aa228acd1f9920fe3	Lung diseases associated with @PHENOTYPICFEATURE$, such as @DISEASE$ lung syndrome and acute lung injury, affect alveolar claudin expression, which is frequently associated with impaired fluid clearance due to increased alveolar leak.	false
+15954bc7ab24931590e164839f17e7441d08b553	Apoptosis may have role in the pathogenesis of cholestasis, @PHENOTYPICFEATURE$, the "vanishing bile duct syndrome", and @DISEASE$ liver injury.	false
+1af4cb71e83726c2a073b51ab86383cda0a4d78a	e., L-NAME) and L-arginine, and that this has some physiologic importance (NO-generation), later, practically supports its beneficial effects illustrating BPC 157 and NOsystem mutual (with L-NAME/L-arginine; alone and together) relations in (i) gastric mucosa and mucosal protection, following @DISEASE$ lesions, in cytoprotection course, NO-generation, and blood pressure regulation; (ii) alcohol acute/chronic intoxication, and withdrawal; (iii) cardiovascular disturbances, chronic heart failure, pulmonary hypertension, and arrhythmias; (iv) disturbances after hypokalemia and @PHENOTYPICFEATURE$, and potassium-cell membrane dysfunction; and finally, in (v) complex healing failure, proved by the fistulas healing, colocutaneous and esophagocutaneous.	false
+e60d0635d0094443e2fcf34b6d4f8206c37c864d	By contrast, lung diseases that affect claudin expression and impair barrier function, including @DISEASE$ lung syndrome and sepsis, prime the lung for @PHENOTYPICFEATURE$.	false
+251792f726fda3596539ad4b50a0254f67d9d2fb	Both clinically evident @DISEASE$ heart disease and @PHENOTYPICFEATURE$ have a poor prognostic significance.	false
+a762c0b3f7051a409963bd255c68637dd24712e0	According to the ocular symptoms and systemic signs, including low body weight, a @PHENOTYPICFEATURE$, a bird-like face, atrophic and @DISEASE$-like skin, in addition to the juvenile cataracts, the clinical diagnosis of Werner's syndrome was made.	false
+6b1d306a76ab998042c6e90848ba101c426a68cf	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of @DISEASE$ renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+8fd20d44c55117d3fedcac3039a3a76188708dec	Twenty-five @DISEASE$ @PHENOTYPICFEATURE$ were incorporated into a validated TRUS prostate biopsy simulator.	false
+748d50aad3caadebc159ac4ceea5df2691737c87	Here, we investigated these antitumor effects for @DISEASE$ @PHENOTYPICFEATURE$ in vivo.	false
+04501821eed1e25b4fc870516193ad90715976bc	The findings of the patients that underwent detailed neurological and neurophysiological testing were not suggestive for the presence of progressive @DISEASE$, but one patient showed mild @PHENOTYPICFEATURE$ without worsening over time.	false
+f57cbce0b84a9b560c87c3d872aef779980a1518	To assess the prognostic value of @DISEASE$ @PHENOTYPICFEATURE$ volume.	false
+333bf4c3090c830928b1ec5b958e591396309943	These findings make V-ATPases attractive targets against early and advanced @DISEASE$ @PHENOTYPICFEATURE$.	false
+996563bfd7a20b9e37732189e6fe8214122a7e5b	The complex microenvironment of @DISEASE$ @PHENOTYPICFEATURE$ has been shown to complicate drug delivery thus decreasing the sensitivity of PCa tumors to chemotherapy.	false
+622dcdc8ce816968440084d95caf201b844df27d	The complex microenvironment of @DISEASE$ tumors has been shown to complicate drug delivery thus decreasing the sensitivity of PCa @PHENOTYPICFEATURE$ to chemotherapy.	false
+6a90982b804ebfbb4b8954d18ca3f79e2b07c22c	The complex microenvironment of PCa @PHENOTYPICFEATURE$ has been shown to complicate drug delivery thus decreasing the sensitivity of @DISEASE$ tumors to chemotherapy.	false
+408a494279708e31a084792805b3d87c3aa3e2cc	The complex microenvironment of PCa tumors has been shown to complicate drug delivery thus decreasing the sensitivity of @DISEASE$ @PHENOTYPICFEATURE$ to chemotherapy.	false
+825545200deada5d3ea6c06aec22a5245997bba1	Recruitment in the diagnosis of small @DISEASE$ @PHENOTYPICFEATURE$.	false
+9f185f2dd35c004ab7ff6581351697480e05d019	Moreover, organoids retain genetic integrity of @DISEASE$ @PHENOTYPICFEATURE$.	false
+258e8b0e1b5c2b6713ae2747a65faf1e4d81ad44	Importantly, ST1926 potently inhibited @DISEASE$ @PHENOTYPICFEATURE$ growth and progression in vivo.	false
+02b1b22986498911bdade82376cfbef35e8dc40c	In high-complexity tumours @DISEASE$ was associated with a @PHENOTYPICFEATURE$ size-driven increased risk of post-procedural complications.	false
+e3c813876da0a1557ea023fade671022359c277b	In high-complexity @PHENOTYPICFEATURE$ @DISEASE$ was associated with a tumour size-driven increased risk of post-procedural complications.	false
+6f3a960c09505de3a3b692fffb041e32c504d77d	The others were @PHENOTYPICFEATURE$ 15 (18.5%), encephalocele 10 (12.4%), subgaleal inclusion dermoid cyst 7 (8.6%), and @DISEASE$ (7.4%), neurofibroma 4(4.9%), and anencephaly 2 (2.5%).	false
+242d80b4809e34edf6d0607183592c536a3b7e7a	Exposure to valproic acid monotherapy was recorded for a total of 180 registrations, with 122 registrations in the case group, 45 in control group 1, and 13 in control group 2. As compared with no use of an antiepileptic drug during the first trimester (control group 1), use of valproic acid monotherapy was associated with significantly increased risks for 6 of the 14 malformations under consideration; the adjusted odds ratios were as follows: @PHENOTYPICFEATURE$, 12.7 (95% confidence interval [CI], 7.7 to 20.7); atrial septal defect, 2.5 (95% CI, 1.4 to 4.4); cleft palate, 5.2 (95% CI, 2.8 to 9.9); hypospadias, 4.8 (95% CI, 2.9 to 8.1); polydactyly, 2.2 (95% CI, 1.0 to 4.5); and @DISEASE$.8 (95% CI, 1.8 to 18.8).	false
+c567cb76afecc2606c9302695cd3a2b9ab71d9a7	In addition to CS, subsets of such disparate syndromes as @DISEASE$, Proteus syndrome, and possibly VATER with @PHENOTYPICFEATURE$ and megencephaly with autistic features have been found to have germline PTEN mutations.	false
+822891117c825bf62c61bdd0c712c14ba54ee626	@DISEASE$ (BRRs) is an @PHENOTYPICFEATURE$ disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps).	false
+2ca740e0df7f4e2ecaab15caacdeabf89b479906	Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as @DISEASE$, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as @PHENOTYPICFEATURE$ and macrocephaly.	false
+89792a87e990d044aad583b1bc67bac8d2e87d3a	Primary @DISEASE$ in the foot can mimic infection or @PHENOTYPICFEATURE$ from a traumatic event.	false
+a66276306408ade9c8fa17223c3b3d1716e734da	Because of the subtle early features, @DISEASE$ can be mistaken for other pathologic entities that present with clinical signs of erythema, warmth, @PHENOTYPICFEATURE$, and pain.	false
+496d28ddb34d95bd2c25ab2292e63e9d16e9ccc7	[Phlebectasic @PHENOTYPICFEATURE$ caused by @DISEASE$].	false
+619bf8d2c1c3d27571b9ae0feb86cb205df8d686	The second patient had @DISEASE$ in the same lymph node together with pleural involvement clinically and evidence of @PHENOTYPICFEATURE$.	false
+53865585767e0bfed67da37b187d882bda0e91c2	@PHENOTYPICFEATURE$ in older adults diagnosed with @DISEASE$: A population-based study.	false
+f9b8ad65f95b300ccbc3b999781e60439194a515	Physical activity, @PHENOTYPICFEATURE$ and survival in diffuse large B-cell and @DISEASE$ cases.	false
+67e0eb7ff99fb53d0ebb1463c3bf930dfde75117	In a population-based case-control study, @PHENOTYPICFEATURE$ was associated with elevated odds ratios (ORs) for non-Hodgkin lymphoma (NHL), and the two major subtypes, diffuse large cell (DLCL) and @DISEASE$ (FL).	false
+fac43794bc1f0b7379402e1c8fd06c1196cfbe3f	To the authors' knowledge, there is limited information regarding the long-term risk of @PHENOTYPICFEATURE$ (CHF) among patients with @DISEASE$, a prevalent non-Hodgkin lymphoma diagnosis among those aged >65 years, especially within the context of therapeutic exposures and preexisting comorbidities.	false
+10bfaf6e7ad4b7c405a5eb77fb30aa0098f9d81b	These included: headache (28 patients); @PHENOTYPICFEATURE$ (7); epilepsy (5); lacunar stroke (1); white matter disease (1); intraspinal @DISEASE$ (3); facial palsy (1); radiculopathy (5); and polyneuropathy (2).	false
+4d3395ec7aee65b5fe928478cd7a18633bc8fea8	Findings previously unreported in NF1 included an aqueductal web resulting in @PHENOTYPICFEATURE$, intraocular @DISEASE$ resulting in retinal detachment, and asymptomatic enlargement of the septum pellucidum.	false
+cf753ce2c0d855da3540e99e85cee721de3b1733	Although massive soft tissue @DISEASE$ may be present early in life, massive tumor @PHENOTYPICFEATURE$ may take years.	false
+6475a1e098a83ac2e42e5406ef5a03e14fa0000d	Occult infratemporal fossa @DISEASE$ presenting with persistent unilateral @PHENOTYPICFEATURE$ and middle ear effusion: More than meets the eye.	false
+9b69d3ba08cc950024e1c08b02b903752a2f46a8	@PHENOTYPICFEATURE$ @DISEASE$ sensory axonal neuropathy and painful small fiber neuropathy are the most frequent neurological manifestations.	false
+e589f60c8593163f6ed962578e77fecd1891fc94	This review focuses on the molecular differences and similarities of the major fibrosing skin disorders @DISEASE$ systemic sclerosis, localized scleroderma, keloid and hypertrophic @PHENOTYPICFEATURE$, Eosinophilic fasciitis, Lichen sclerosus and graft-versus-host-disease. Abnormalities in ECM turnover and the impact of matrix-metalloproteases were closely examined.	false
+ed2e865d1d06ba0cb449896ecc06178845a66200	IMAGe, a new clinical association of intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and genital anomalies.	false
+903187fd2216afd92e44300f8dc42c31421695a8	He was suspected as IMAGE (Intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and Genital anomalies) syndrome.	false
+e7e268c1409c96e121b83f3ca88233e710802a8d	Components of the syndrome are intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies.	false
+3254f5c0a07722f61ef5b0de434964f8a5512b2f	Though variable, this disorder mainly consists of Intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and Genital abnormalities.	false
+b43380eedd1a505da03c6eb2dd088a962ada9fc1	IMAGe syndrome (intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies) is an undergrowth developmental disorder with life-threatening consequences.	false
+e7311752cd38abb380238e6a1fada74262ed59b1	The IMAGe (intrauterine growth retardation, metaphyseal dysplasia, @DISEASE$, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, adrenal hypoplasia, and genital anomalies.	false
+e6f8ee21b19e4c2c9ec5366d8b80e53b9ba6b5cb	The IMAGe (intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies.	false
+6413975ec154745899b3193c4f9c35ded0ab1d2c	IMAGe is a mnemonic acronym that stands for Intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and Genital anomalies (OMIM 300290).	false
+2409fac74547dd4692eb4a180917c691ee273a62	Recently, an association between Intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described.	false
+517220061ba517c0093583f36f3c7a2cc930860f	IMAGe is a newly reported syndrome characterized by the association of intra-uterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies.	false
+7ddb0694b16afb0afe5540be51a5d1f30750dc10	We report three boys with @DISEASE$ (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, @PHENOTYPICFEATURE$, AHC, and Genital anomalies.	false
+a121d1f94f40fa2e8beb6721068cf77778dab3a5	We report three boys with adrenal hypoplasia congenita (@DISEASE$) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, @PHENOTYPICFEATURE$, AHC, and Genital anomalies.	false
+0ef80b97e2b5e7629d1f9074acd3a380cda9ca20	Profiles of membrane properties (alkyl-chain order, fluidity, oxygen transport, and hydrophobicity) across the @DISEASE$ were very similar for clear and @PHENOTYPICFEATURE$ membranes.	false
+67bcd8d1fa741d30765b0461165afaa66b04f217	Slight to mild CHL and all types of otitis media are prevalent among patients with @DISEASE$, and some of these children have @PHENOTYPICFEATURE$ (SNHL).	false
+d81b10b779058c1032f19178ac9e5c5f8aa4b999	Otitis media with effusion (OME) is the most common cause of @PHENOTYPICFEATURE$ in children and is strongly associated with primary ciliary dyskinesia (@DISEASE$).	false
+5b0135a999d9499a44a2d25c5082e6f49616b005	His cerebellar symptoms were considered to be caused by the @DISEASE$, and the diplopia, @PHENOTYPICFEATURE$, and hyporeflexia were attributed to LEMS.	false
+e27801f03dcfd5ef4766054aa4cc6303949d941d	The individual presented primary ciliary dyskinesia (@DISEASE$) and additional symptoms including @PHENOTYPICFEATURE$, kidney dysplasia, severe kidney function loss, and congenital heart disease which potentially linked to primary cilia deficiency.	false
+3e709826aeec80a8e62245502085ca53f2b9d095	Clinico-pathological studies were made on rats with @DISEASE$ (PCK), a congenital renal disorder transmitted as an autosomal recessive trait and characterised by facial and @PHENOTYPICFEATURE$, with the results summarised as follows: 1) Affected animals had a poor weight gain and slightly increased urinary excretion of low molecular weight protein from 2 months after birth, and developed polyuria and hypocalciuria 5 months postnatally.	false
+2c086a05d01de960cf1c4fe6695b36fe06def463	not only allowed the identification of genes involved in the alpha-thalassemia and in the vulnerability to bipolar disorders, but also the identification of genes implicated in tuberous sclerosis, in @DISEASE$, in cataract with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of @PHENOTYPICFEATURE$ and mental retardation.	false
+8729d714f0a8160b7aa95d3ef5a6beb8b1638ae7	Numerous clinical descriptions and some familial studies on linkage suggested a possible relationship between tuberous sclerosis, @DISEASE$, cataract with microophtalmia, ATR-16 syndrome, asthma, epilepsy, certain forms of @PHENOTYPICFEATURE$, mental retardation and bipolar disorder, given the closeness of these vulnerability genes on the short arm of the chromosome 16.	false
+54f32ecf768d5af2adf03444dffb81faee5e2f51	Different diseases and disorders that affect the kidneys include, but are not limited to, glomerulonephritis, diabetic nephropathy, @DISEASE$, kidney stones, @PHENOTYPICFEATURE$, sepsis, and renal cell carcinoma.	false
+1c8af70e307abf9458dffcf66e8a73bff2abc660	[@DISEASE$, @PHENOTYPICFEATURE$ and duodenal carcinoid].	false
+04cc9588aecfbb3201719b4205a8f6e2bc45b1f8	She has been diagnosed with @DISEASE$ (PCKD) with no detectable mutations in PKD1 or PKD2, spina bifida occulta, thoracic @PHENOTYPICFEATURE$, a uterus didelphys and a patent foramen ovale (PFO).	false
+cf7c3c87e36a0ade4218e3da464bb91987b88cee	Some theories suppose a focal origin even for general pathology such as cancer, sarcoidosis, multiple sclerosis, amyotrophic lateral sclerosis, @PHENOTYPICFEATURE$, Guillain-Barr? syndrome, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS), Tourette's syndrome, myasthenia gravis, @DISEASE$, obesity, Alzheimer's disease and diabetes mellitus.	false
+d3227228604e0368063339693a20618018ee7825	@DISEASE$ is a rare syndrome of bone dysplasia, @PHENOTYPICFEATURE$, retinal dystrophy and humeral immunodeficiency.	false
+644dd17b0ee3ae65a763d3f375c5e77e36faa400	@DISEASE$ is a constellation of antibody deficiency, spondyloepiphyseal dysplasia, facial dysmorphism, @PHENOTYPICFEATURE$, and retinal dystrophy.	false
+ea8fa13596330188364cf287b8cf61a791f4311e	@DISEASE$ is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia.	false
+9e9d7d3240abdf6f962ba8462d810658bfe29bbb	Sudden death in a case of @DISEASE$ capillary malformation associated with a de novo @PHENOTYPICFEATURE$ in AKT3.	false
+75424f3f386a559631b3885b71e8fce961b4023a	@PHENOTYPICFEATURE$ in @DISEASE$ by MRI.	false
+80f7de2554b6423acf5c15912e61f0b019da06a2	[The clinical and computed tomographic criteria of the diagnosis of multiple systemic @PHENOTYPICFEATURE$ with progressive autonomic insufficiency (the @DISEASE$)].	false
+f99fd9ad459044a900cca0973c8a85e4d8a276f3	Gastrointestinal symptoms such as nausea, @PHENOTYPICFEATURE$, and bloating are frequent complaints in patients with Parkinson disease (PD) and in patients with @DISEASE$ (MSA), and may be associated with delayed gastric emptying (GE).	false
+e234d1f9e7679511ca249dd268f2a177785f8b5e	Sleep-related stridor due to dystonic vocal cord motion and neurogenic @PHENOTYPICFEATURE$/tachycardia in @DISEASE$.	false
+5fec1d1d7fabd976e04b36f589ff330bfce34347	[An autopsied case of @DISEASE$ with remarkable @PHENOTYPICFEATURE$].	false
+5f487a7fa8a003e106b6967eefbf1f6fa17dcc2f	Progressive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+159fc8bd78214a18a45e7a13e9b878de62f6cd90	[Quantitative MRI study of progressive @PHENOTYPICFEATURE$ in @DISEASE$].	false
+6b2c60a187db20557980835e64e2be55b1a665f9	We investigated @PHENOTYPICFEATURE$ in @DISEASE$ (MSA) by quantitative analysis of MRI.	false
+c4b4e0bc0df7252f1da6d2f9992446ad6c7cfde2	This observation provide new information on the possible ocular findings in patients with @DISEASE$. Based on this report, we suggest that careful coagulation screening should be considered in children who possess idiopathic @PHENOTYPICFEATURE$ aiming at identifying the possible coagulation disorder.	false
+7242647389a0941d4dbb25205ec5b16f055ea35f	At presentation they manifested clinical features of MPS, severe developmental retardation, radiological features of dysostosis mutiplex, as well as neurophysiological findings suggestive of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7c4b5ba407316fed7916fd898ee44ed52845f0ee	These include radiation safety issues and concerns about the possibility of developing latent diseases, such as eye @PHENOTYPICFEATURE$ or cancer; pregnant workers and radiation safety issues; biohazard concerns associated with patient body fluids; possible low-back pain from moving heavy equipment and performing patient transfers; and possible repetitive trauma disorders, such as @DISEASE$, from computer work.	false
+05700576280a0a2059bac30571e4d7e340752b48	We quantified depressive symptoms using the Center for Epidemiologic Studies Depression (CES-D) scale and performed multivariable analyses on 2 outcome measures: (1) @DISEASE$ (CTS) symptoms (Boston Carpal Tunnel Questionnaire [BCTQ]) and (2) palmar @PHENOTYPICFEATURE$, focusing on preoperative CES-D and BCTQ score, sex, age, alcohol use, diabetes, and severity of nerve conduction abnormalities.	false
+41c68719af8936475e24218b07b747218c5bde16	We calculated univariate statistics and used bivariate chi-square tests and multivariate logistic regression models to assess the relation between FI and risk of neurologic symptoms including seizures, extremity weakness, extremity numbness, tremors/ataxia, aphasia, @DISEASE$, vision dysfunction, and spinal @PHENOTYPICFEATURE$.	false
+4c05a0571933d240dab7bed2e6b41d02dc48ed3b	The weight of evidence is in favor of BTX type A as a treatment in: pelvic pain, plantar fasciitis, temporomandibular joint dysfunction associated facial @PHENOTYPICFEATURE$, chronic LBP, @DISEASE$, joint pain, and in complex regional pain syndrome and selected neuropathic pain syndromes.	false
+4d75981a6035b3a2a6ad499d771a14e2dd8f07f7	Laterality judgment impairment was shown in CPRS1, upper limb pain, hand and wrist pain, @DISEASE$, facial @PHENOTYPICFEATURE$, knee osteoarthritis, and leg pain.	false
+8001b93bd1846147a6337afc3e506b5ea29d70d9	Neural mobilization techniques studied include cervical lateral glides for cervico-brachial @PHENOTYPICFEATURE$, nerve gliding exercises for the treatment of @DISEASE$, cervical lateral glides for lateral epicondalalgia and the slump as a neural mobilization technique in the treatment of low back pain.	false
+9c4c4c58cf1a1ca4797ebc0bbe463d899d5e5aa6	The 17 patients receiving workers' compensation were divided into two groups: workers with carpal tunnel syndrome only and workers with @DISEASE$ and associated musculoskeletal @PHENOTYPICFEATURE$ syndromes.	false
+7d7ffd48093ee5c56e341cc44921deb72ef9c55e	Pulsed radiofrequency, peripheral neuropathic @PHENOTYPICFEATURE$, radicular pain, postherpetic neuralgia, trigeminal neuralgia, occipital neuralgia, pudendal neuralgia, meralgia, @DISEASE$, review.	false
+53745bd2645a74903c559e788a72e3e20c597c41	BMI was most strongly associated with admissions with diabetes, knee-replacement, gallbladder disease and venous thromboembolism, but marked associations were found with many other common categories of admission including @PHENOTYPICFEATURE$, @DISEASE$ and diverticulitis.	false
+75800924055b1b14521165d004f6860e5ac43fe7	We present a @DISEASE$ in a 28-year-old man with one side @PHENOTYPICFEATURE$.	false
+9a1b62ca1720dc66221c6be056f3cb66e2f49e92	We report a case of primary renal @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+a221472b2e0cdfe576d38dad7970bbe5d61ffe39	Therapeutic options include pharmacotherapy for @PHENOTYPICFEATURE$, control of the systemic @DISEASE$ disease and in selected individuals cardiac valve replacement.	false
+937554e8b6d22c77f098cde339970cce9651db7c	There are very few reports in the literature of ovarian @DISEASE$ and even fewer on @PHENOTYPICFEATURE$ due to carcinoid.	false
+bd4678161ad198df36c3c05148bc1660c957041f	The present report describes a woman with unrecognized primary ovarian @DISEASE$, unexpectedly exhibiting @PHENOTYPICFEATURE$.	false
+2b7d818ab6ac32be6421c2ee66560ccf20effc55	In patients with malignant midgut @DISEASE$, characteristic @PHENOTYPICFEATURE$ can be demonstrated by cardiac ultrasound in 60-70%.	false
+212b480542442e3a239ee7418eb0f79252b1d108	A rare case of ovarian @DISEASE$ causing @PHENOTYPICFEATURE$.	false
+2db2b2e2b2b66600baabd6e7fca96c9adca03338	A rare clinical occurrence, @PHENOTYPICFEATURE$ in the setting of tricuspid stenosis should immediately trigger a search for underlying systemic @DISEASE$ disease.	false
+15a91af5846fbccac9269c3b7660e8f000b9b204	In our patient with metastatic @DISEASE$, treatment with zoledronic acid and interferon alfa was associated with symptomatic @PHENOTYPICFEATURE$ and acute renal failure.	false
+c7828ddb0bc75300ba70c33dc843a41033da95af	@PHENOTYPICFEATURE$ is often associated with major morbidity and mortality in @DISEASE$ disease.	false
+a633ff002000f904e514a868e29cb80bf1f98eb5	We experienced a case with @DISEASE$ and congenital @PHENOTYPICFEATURE$, in which the EEG findings improved after the resolution of shunt complications.	false
+f1be51ad90a51ec2d38424a7fafeaa98cef82f87	Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic @DISEASE$, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and @PHENOTYPICFEATURE$.	false
+d1168a902443b35b9d5020bef4a7dbccfa220eb1	Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, @PHENOTYPICFEATURE$, @DISEASE$, Partington syndrome, and X-linked intellectual disability with or without epilepsy.	false
+7be32736a72a4e93105ce8af7310b4e0059510d5	However, in persons with @DISEASE$ or @PHENOTYPICFEATURE$, it might be impossible to unravel whether CVI is caused by the seizure disorder or increased intracranial pressure or by the underlying disorder (that in itself can be acquired or genetic).	false
+31f8e21a7faa1b519bbdac64bedd686894857a92	@DISEASE$ and/or hydrocephalus was identified in 21 patients (7%), and in 17 patients (6%) both an acquired cause and West and/or @PHENOTYPICFEATURE$ was present.	false
+079cea2cf17cf5524df2d419ffa94f9d712ed339	@DISEASE$ and/or @PHENOTYPICFEATURE$ was identified in 21 patients (7%), and in 17 patients (6%) both an acquired cause and West and/or hydrocephalus was present.	false
+298d2e76c2f2f2d3f8967adba47ffedd131acc63	The origin of hypsarrhythmia and tonic spasms in @DISEASE$: evidence from a case of porencephaly and @PHENOTYPICFEATURE$ with focal hypsarrhythmia.	false
+f5e8bcba1bef7dabeb32a863ceab1e1a93cc21de	The course of this case implied the pathogenesis of West syndrome associated with congenital @PHENOTYPICFEATURE$, as well as the origin of the seizures and that of the EEG findings in @DISEASE$.	false
+106109d9298c4a1e880ecde4f335a5d0c7526003	In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had other possible risk factor (acquired, preterm birth, @DISEASE$ or @PHENOTYPICFEATURE$), making differentiation between acquired and genetic not possible.	false
+c557f869818a05332ebdbee4f0e353370bb55960	@DISEASE$ (TAPVR) is a rare @PHENOTYPICFEATURE$, and patients are usually symptomatic at a very young age.	false
+2f6a0c44cee29eae22db52de448d5307b26a0e69	The unique anatomy, physiology, and surgical repair of a patient with features of three rare @PHENOTYPICFEATURE$ (@DISEASE$ to the coronary sinus, cor triatriatum, and unroofed coronary sinus with persistent left superior vena cava to the left atrium) is described.	false
+84a7463ad7148c1cbcb3c09ab04bf73466a9175a	@DISEASE$ (TAPVR) is a rare condition, accounting for 1% of all congenital heart diseases, and an atypical @PHENOTYPICFEATURE$ in Williams syndrome (WS).	false
+abc117f51e97794e5a41804b3d100b59a977a394	@DISEASE$ (TAPVR) is a @PHENOTYPICFEATURE$ inherited via complex genetic and/or environmental factors.	false
+a27665dcb9058046196078da28613ea0f06e4c22	@DISEASE$ (TAPVR) is a cyanotic @PHENOTYPICFEATURE$ that, without surgical correction, has a high mortality rate in the first year of life.	false
+9f68462127c076c69275326ea92d4c1faa0ddc48	@DISEASE$ (TAPVR) is a rare @PHENOTYPICFEATURE$ that occurs when all four pulmonary veins connect to the systemic venous circulation.	false
+ba408b7cfa17a508fed636aaa3a6194ab549068d	@DISEASE$ (TAPVR) is an uncommon @PHENOTYPICFEATURE$.	false
+e7d32a5f3cee93eba8e93de0c587c55b10f7b2cf	@DISEASE$ is an uncommon cyanotic @PHENOTYPICFEATURE$.	false
+59a947cdaa32740acf5f09379fc0283c02d0d623	@DISEASE$ (TAPVR) is a @PHENOTYPICFEATURE$ in which the pulmonary veins fail to enter the left atrium and drain instead into the right atrium or one of its venous tributaries.	false
+d5a9d12b4763da97f98467fc0223e1450dc2e478	We describe a child with downslanting palpebral fissures, preauricular malfunctions, @PHENOTYPICFEATURE$ (@DISEASE$), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q.	false
+20b534592cf0b8395000d8b0c76d2768577bd9af	Human harp maps to chromosome 16, and its mouse homologue to chromosome 7. Sequences with similarity to harp include the sans gene, mutations of which are responsible for @PHENOTYPICFEATURE$ in the Jackson shaker 2 (js) mutant mouse and in human @DISEASE$.	false
+1f5a7bc08f1cd09280fd58baeb2f993081b1dc76	We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of @DISEASE$, characterized by congenital profound @PHENOTYPICFEATURE$ and balance disorders.	false
+404512211b7cda424f4b0868977b03021f916dad	@DISEASE$ is a rare disorder that, on imaging studies, may simulate stress fracture, chronic infection, bone-forming @PHENOTYPICFEATURE$, or a systemic metabolic or endocrine disorder.	false
+b7f9cfcdba8b8986bb716d302a1a45ca832b3110	These data suggest that the mutational events leading to @DISEASE$ are analogous to those reported for @PHENOTYPICFEATURE$ suppressor genes in malignancies.	false
+ddf56c2d73d9965555ead55b459313cd3537e400	@DISEASE$ in cultured mouse mammary @PHENOTYPICFEATURE$ FM3A cells resistant to 4-carbamoylimidazolium 5-olate.	false
+3a2f1d58c12fda1707adce62e740b95ee4923e68	the feasibility of this model has been illustrated, first, by showing that @DISEASE$ mice are viable and, second, by demonstrating that the minority of Aprt+ cells within a chimeric @PHENOTYPICFEATURE$ growing in an Aprt+ mouse can be selectively labeled following IP injection of [14C]-adenine and can be identified by autoradiography.	false
+85f16f9e4f1787260058dc4c1bf2a78f32dc649f	@DISEASE$ may be associated with chronic recurrent @PHENOTYPICFEATURE$.	false
+bcb1d9ebd3efa4b18dd78c12d14d25084dfed1ae	Chlamydia trachomatis is responsible for many million cases of blindness, pelvic inflammatory disease, urethritis, epididymitis, infertility and ectopic pregnancy annually; it also causes lymphogranuloma venereum, @DISEASE$, ophthalmia neonatorum and infantile @PHENOTYPICFEATURE$.	false
+c33ba25555e8c199a9bfd7a5e19a0867b7fcd702	@DISEASE$, a triad of @PHENOTYPICFEATURE$, inflammatory oligoarthritis, and sterile urethritis, has been associated with enteric infections.	false
+2bb0f8523f1cf999b7ff9fb6e235f96b87b8d5c9	One month after surgery, severe @DISEASE$ developed in conjunction with recurrent ascites and lower extremity @PHENOTYPICFEATURE$.	false
+d2c95ef0e039fc35946cb73fd4967dca6647fdcb	Acute interstitial nephritis (AIN) is a form of acute kidney injury (@DISEASE$) characterized by a rapid deterioration of renal function, inflammatory infiltration of interstitial tissues, and renal @PHENOTYPICFEATURE$.	false
+253e82e0cc237bcf35837be92a8bd8ecd8524e1a	We demonstrate that zebrafish larvae injected with gentamicin show morphological features consistent with @DISEASE$: @PHENOTYPICFEATURE$, loss of cell polarity in proximal tubular epithelial cells, and morphological disruption of the tubule.	false
+5d34e515cd1774b2e1c0c6e346cb5c4cd58789c8	A significant pulmonary interstitial and alveolar space @PHENOTYPICFEATURE$, which showed a typical pathological change in acute lung injury, was found in @DISEASE$ and sepsis group 8 h after the experiment.	false
+b95fc94762b3badc65f19b52970905df3b306e2f	To investigate enlargement of prostate volume by @PHENOTYPICFEATURE$ during brachytherapy seed implantation and develop a nomogram model to calculate air-kerma strength (@DISEASE$) required for implantation of the enlarged transient prostatic volume.	false
+93f6ee35e62956ed912162a2f16366e9738ad656	A review of this literature suggests that there are 4 causes of pulmonary edema leading to respiratory failure in patients with @DISEASE$: (1) volume overload (cardiogenic edema), (2) left ventricular dysfunction (cardiogenic @PHENOTYPICFEATURE$), (3) increased lung capillary permeability (noncardiogenic edema), and (4) acute lung injury (noncardiogenic edema with inflammation).	false
+f3adf2dcaee4b45267586ad817f5cd9429c1e7de	A review of this literature suggests that there are 4 causes of pulmonary edema leading to respiratory failure in patients with @DISEASE$: (1) volume overload (cardiogenic @PHENOTYPICFEATURE$), (2) left ventricular dysfunction (cardiogenic edema), (3) increased lung capillary permeability (noncardiogenic edema), and (4) acute lung injury (noncardiogenic edema with inflammation).	false
+df46a533110007a17dc0b04c1eeccf2f463dad8d	A review of this literature suggests that there are 4 causes of pulmonary edema leading to respiratory failure in patients with @DISEASE$: (1) volume overload (cardiogenic edema), (2) left ventricular dysfunction (cardiogenic edema), (3) increased lung capillary permeability (noncardiogenic edema), and (4) acute lung injury (noncardiogenic @PHENOTYPICFEATURE$ with inflammation).	false
+c309c79e16468fcdd6f01a18ce24ee4ec03c11c5	A review of this literature suggests that there are 4 causes of pulmonary edema leading to respiratory failure in patients with @DISEASE$: (1) volume overload (cardiogenic edema), (2) left ventricular dysfunction (cardiogenic edema), (3) increased lung capillary permeability (noncardiogenic @PHENOTYPICFEATURE$), and (4) acute lung injury (noncardiogenic edema with inflammation).	false
+3df64763c91bf52d02cdf866b8d04aca089b9470	Renal ischemia reperfusion injury leads to acute kidney injury (@DISEASE$) and is associated with tissue @PHENOTYPICFEATURE$, inflammatory cell infiltration, and subsequent development of interstitial renal fibrosis and tubular atrophy.	false
+83c1931f2c4810cdcb4099cffa64ceb65c315481	The combination of @DISEASE$ associated with lower extremity @PHENOTYPICFEATURE$, abnormal monophasic hepatic vein flow on Doppler ultrasound, and a low urinary sodium excretion after liver transplantation should evoke the possibility of inferior vena cava stenosis as the etiologic factor.	false
+29ea12a00569813cdf601855845ebe25f4ca8443	Although volume overload is a well-accepted mechanism of pulmonary edema in patients with @DISEASE$, the purpose of this review was to highlight the evidence showing that noncardiogenic @PHENOTYPICFEATURE$ and acute lung injury also occur.	false
+b95fc94762b3badc65f19b52970905df3b306e2f	To investigate enlargement of prostate volume by @PHENOTYPICFEATURE$ during brachytherapy seed implantation and develop a nomogram model to calculate air-kerma strength (@DISEASE$) required for implantation of the enlarged transient prostatic volume.	false
+b06de5a9f2dec20aaa05b866e3c04870ef718838	@PHENOTYPICFEATURE$ have not been previously reported in @DISEASE$.	false
+074c3134fb4047b2483609c40b82bbcf126b7455	Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (@DISEASE$ [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, @PHENOTYPICFEATURE$, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described.	false
+39e891455912f4c45440dcf78d50096ab93a966f	We report the clinical presentation and laboratory findings of a 69-year-old man with @DISEASE$ (FXTAS), a @PHENOTYPICFEATURE$ disorder, who was noted to have monoclonal gammopathy of undetermined significance (MGUS), a plasma cell proliferative disorder and a precursor disease of multiple myeloma.	false
+e73a7920d3547b2ec3860ef0390435a9e1d30b81	@DISEASE$ is characterized by sudden and strong headache, accompanied by vomiting, acuphenos and @PHENOTYPICFEATURE$, triggered by abrupt movement of the head and can produce deep coma and death.	false
+e6762f123aed543b36b31c7c964826fadd100693	Here, we report a 38-year-old woman with relapsing attacks of headache, @PHENOTYPICFEATURE$, nausea, vomiting, and ataxia provoked by head rotation corresponding to the classical @DISEASE$.	false
+421799da2712a75aaa9192974c1e3c1286f9a135	@DISEASE$ is an unusual phenomenon, characterized by attacks of sudden and severe headache, vomiting, and @PHENOTYPICFEATURE$, triggered by abrupt movement of the head.	false
+c7dfed0bc5bcafcde61d2de2132000dfb09ab7d4	The @DISEASE$ is an unusual phenomenon, characterized by attacks of sudden and severe headache, vomiting and @PHENOTYPICFEATURE$, triggered by abrupt movement of the head.	false
+e6762f123aed543b36b31c7c964826fadd100693	Here, we report a 38-year-old woman with relapsing attacks of headache, @PHENOTYPICFEATURE$, nausea, vomiting, and ataxia provoked by head rotation corresponding to the classical @DISEASE$.	false
+c7dfed0bc5bcafcde61d2de2132000dfb09ab7d4	The @DISEASE$ is an unusual phenomenon, characterized by attacks of sudden and severe headache, vomiting and @PHENOTYPICFEATURE$, triggered by abrupt movement of the head.	false
+45e0b85fa3633ecb17a4ad1b47750cccd0933c95	Mobile ventricular mass can produce episodic hydrocephalus on changing head posture with attacks of headache, vomiting, and @PHENOTYPICFEATURE$, triggered by abrupt movement of the head, a phenomenon called @DISEASE$ (BS).	false
+3e0fd6d9bf61c2f3b09212a9cc17d3fa31e44f90	@DISEASE$ are distal @PHENOTYPICFEATURE$ because they are genetic disorders with progressive loss of muscle tissue.	false
+ef7fdfe251907421fa44a60504282d05517b817c	The differential diagnosis included rimmed vacuole type myopathy, Miyoshi type @DISEASE$, Welander type @PHENOTYPICFEATURE$, adult type acid-maltase deficiency, and lysosomal glycogen storage disease with normal acid maltase.	false
+1413bf80f174191dfa24e249ad92ce54755d63ab	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, congenital adrenal hypoplasia, and @DISEASE$.	false
+64d577e624722d6b466d905ae1f5c9a24c6bff79	We have analyzed one patient with a syndrome of @DISEASE$ (GKD), adrenal hypoplasia (AH), mental retardation (MR) and @PHENOTYPICFEATURE$ (HH).	false
+03bcd0f5eddeb7aac86b35b9df36e89cbd64c9c5	These disorders are seen primarily in males, who manifest the phenotypic effects of the deletion of the loci of various combinations of adjacent genes: Duchenne muscular dystrophy, @DISEASE$, adrenal hypoplasia, optic albinism, @PHENOTYPICFEATURE$ and anosmia (Kallman syndrome), chondrodysplasia punctata and ichthyosis.	false
+54bdfbc8b714a6f6a270504805396b22036bf15e	Two unrelated male patients with clinical manifestations of @DISEASE$ and @PHENOTYPICFEATURE$ are presented.	false
+593aaf5b0d8868c4f1dcc218c9c72e9ec5bbb1bc	Mean mandibular length and posterior height were significantly smaller in @DISEASE$ and @PHENOTYPICFEATURE$, compared with unilateral incomplete cleft lip.	false
+f280eb038c285f756369a647b2c9cef2f285c97a	Nonsyndromic @PHENOTYPICFEATURE$ are common craniofacial anomalies classified into two subgroups: cleft lip with or without cleft palate and @DISEASE$.	false
+c4bfc913509b2aaf93ed933a08ac996f82846dee	We found the highest rates for any @PHENOTYPICFEATURE$, @DISEASE$, and cleft lip with and without palate in the white (non-Hispanic) population.	false
+5c28f9c3041cebc20d3649df7c55059dadd1a60d	The males all exhibited the triad of anomalies, while the females both had @PHENOTYPICFEATURE$, only 1 had @DISEASE$, and neither had any genitourinary anomalies.	false
+4409538afb65601cf2c772370c8a110b735dc4a9	[The relationship between cleft severity and incidence of associated @PHENOTYPICFEATURE$ in children with @DISEASE$].	false
+42d00ccbf539f51b6bf0d1984d05628ed0bc6f57	No significant association was found between alcohol use and @DISEASE$ @PHENOTYPICFEATURE$ in children with multiple birth defects.	false
+e4f53bb9f4c1b82b4191b0551a435f92f0b5e732	@DISEASE$ (CPO) is the rarest form of @PHENOTYPICFEATURE$.	false
+564ee6da977c651c2f9cce82567d9cd52d3a02ac	Five infants (7.3/1,000) had @PHENOTYPICFEATURE$: @DISEASE$ (3), isolated cleft lip (1), and cleft lip and palate (1).	false
+20f0531918f92b8526007ae1054f8dfef740059f	The study sample consisted of 334 case-parent trios of nonsyndromic @PHENOTYPICFEATURE$ from Taiwanese population, separated into nonsyndromic cleft lip/palate (NSCL/P) and @DISEASE$ only (NSCPO) groups.	false
+f3d3b2d9664910db334bcdc34f44fdb31b613dc4	Few studies have been performed with @DISEASE$ only (NSCPO), limiting the knowledge of the genetic risk factors related to this type of @PHENOTYPICFEATURE$.	false
+e091c41461ea4ace320b53fc231ca40c84f22cd3	Less than 10 reports of adult-onset non-insulin-dependent diabetes mellitus (NIDDM) due to heterozygous NEUROD1 mutations and 2 cases with @DISEASE$ (PNDM) and @PHENOTYPICFEATURE$ due to homozygous NEUROD1 mutations have been published.	false
+34260fef9c0a1ebd931a3e17ed79d9316362d44b	@DISEASE$ and @PHENOTYPICFEATURE$ due to a novel homozygous missense mutation in NEUROD1.	false
+8acbde7e0ef8eddf3be65d0369ad7796b048b06c	Moreover, @DISEASE$ due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with @PHENOTYPICFEATURE$ has been described so far.	false
+8f8c51ed51c9e8881e865578d9a60cf22b2a7363	Characteristic CT findings, peripheral @PHENOTYPICFEATURE$, lymphocytic CSF pleocytosis, elevated CSF IgG, positive oligoclonal bands, antibody-positive ELISA, and Western blot results with Taenia solium antigen, and a favorable response to albendazole led to the diagnosis of @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+e1f0716919b50d044561b29117a1e152cc53dbfe	The most frequent cause of seizures was @DISEASE$ (28%) followed by cerebral infarct (11%) and @PHENOTYPICFEATURE$ (11%).	false
+31c0abadc4638242d1bda06f95e5c22e812753c3	@DISEASE$, @PHENOTYPICFEATURE$ and amelogenesis imperfecta.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+94dc65be67e3a6a2f552ebf08b389a3d4f600e56	[@DISEASE$ type I with progressive ophthalmoplegia and @PHENOTYPICFEATURE$].	false
+86828150f78517cacf7db53562e4a5c1ef65a8a5	encoding the immunoglobulin micro-binding protein 2. In contrast to the @DISEASE$ type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, @PHENOTYPICFEATURE$, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation.	false
+8b1602be4844550e744b4d5c4f8c85fa7eb14c8c	encoding the immunoglobulin micro-binding protein 2. In contrast to the infantile spinal muscular atrophy type 1 (SMA1; @DISEASE$) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, @PHENOTYPICFEATURE$, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation.	false
+4a3d8ad11c5594259025197733890320ee0a6b01	In the JHD-MRL-Faslpr strain (@DISEASE$/lpr), a B-cell-deficient version of the lupus-prone MRL-Faslpr (MRL/lpr) mouse, spontaneous @PHENOTYPICFEATURE$ and dermatitis is abrogated, demonstrating that B cells have a primary role in disease.	false
+8e25b94012c7e0ea0b035ddf821ecd0fd9d00912	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from soft tissue sarcoma (1 case each of osteosarcoma, @DISEASE$, @PHENOTYPICFEATURE$ and pleomorphic spindle cell sarcoma).	false
+4fed87ec429827e7aeed56bda9e8191d0df1e17a	He was found to have a @PHENOTYPICFEATURE$ that was first thought to be a pseudoaneurysm but was later shown to be a @DISEASE$, presumably metastatic.	false
+de43f943e063f3c550e1799c517fcb3f934e7d5e	@DISEASE$ syndrome with incomplete transverse facial cleft and @PHENOTYPICFEATURE$ of the lips.	false
+0086c9edb11171b9bae8a85d4eab8d30d49021c0	This syndrome should be separated from that of Sch?pf-Schulz-Passarge, which manifests multiple small eyelid apocrine cysts and other ectodermal dysplasias without any association with neoplasia, and from that of @DISEASE$ (Goltz-Gorlin) syndrome with apocrine cysts but again without @PHENOTYPICFEATURE$.	false
+90338ecd6640590557ae36ec1ebba7e4da626759	This syndrome should be separated from that of Sch?pf-Schulz-Passarge, which manifests multiple small eyelid apocrine cysts and other ectodermal dysplasias without any association with @PHENOTYPICFEATURE$, and from that of @DISEASE$ (Goltz-Gorlin) syndrome with apocrine cysts but again without neoplasia.	false
+5ee8b089204c7838667f9c75b5b9e0213b5abb9e	She also had @PHENOTYPICFEATURE$, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of @DISEASE$.	false
+1433c2f7ba851d3dc6efa461d7a8143587e9a096	Dermatologic symptoms can be associated with posttraumatic stress disorder (PTSD) in several situations: (1) as features of some core PTSD symptoms, such as intrusion symptoms manifesting as cutaneous sensory flashbacks, as autonomic arousal manifesting as night sweats and idiopathic urticaria, and as dissociation manifesting as numbness and dermatitis artefacta; (2) the cutaneous psychosomatic effects of emotional and physical neglect and sexual abuse (eg, infantile eczema, cutaneous @PHENOTYPICFEATURE$, and body-focused repetitive behaviors such as @DISEASE$ and skin picking disorder) and eating disorders, which can have dermatologic effects; (3) the direct effect of physical or sexual abuse or catastrophic life events (eg, earthquakes) on the skin; and (4) as a result of significant alterations in hypothalamic-pituitary-adrenal and sympatho-adrenal medullary axes, which can affect neuroendocrine and immune functions, and can lead to exacerbations of stress-reactive inflammatory dermatoses such as psoriasis, chronic urticaria, and atopic dermatitis.	false
+ffea8f025b12ed27f4642d89a78a590e44e46ad1	Jacobsen syndrome (@DISEASE$) is a rare chromosomal disorder leading to multiple physical and @PHENOTYPICFEATURE$.	false
+e7d3c8a54601c9ce87c3b1e56fdd37c5ba3dfff2	In patients with congestive CMP and AHI coupled with @PHENOTYPICFEATURE$, antibodies to nerve fibers of the myocardium could be demonstrated in the presence of @DISEASE$ and high titers of antibodies to Epstein-Barr virus.	false
+0feab9d0166ac48d9a1a084f36acb2ffd82b1b6c	This is the first case report of @DISEASE$, pulmonary hypertension, right heart failure and bilateral @PHENOTYPICFEATURE$.	false
+c45941aff25251fcb003a1831de66eec8612f8f5	Neurological diagnoses (stroke, TIA, Parkinson's disease, @DISEASE$, space occupying lesions, seizures, cerebral trauma, @PHENOTYPICFEATURE$, chronic headache) occurred in 4.577 patients.	false
+63bb501594aa122363f6719e461a8fdfd6d7d0e1	It is thought that the combination of extracellular glutamate accumulation and mitochondrial damage is involved in neuronal death associated with brain ischemia and @PHENOTYPICFEATURE$, and some neurodegenerative diseases such as @DISEASE$.	false
+ff1ef4a3473056e5d5d0626365abf7e22af19cc2	Abnormally enhanced glutamatergic neurotransmission may cause excitotoxic cell damage and lead to the neuronal death associated with olivopontocerebellar atrophy, @DISEASE$, status epilepticus, hypoxia/ischemia, and @PHENOTYPICFEATURE$.	false
+b982052227a785d951d41215e34b2ae6e92a0a86	The current study presents the case of a 67-year-old female @DISEASE$ patient with autosomal dominant polycystic kidney disease (ADPKD) and @PHENOTYPICFEATURE$ (RCC), manifesting polycythemia with elevated sEPO levels.	false
+eb493a154e0cb21425fd110da35058585c74d87c	Although links with skeletal muscle loss have been found in diseases with disparate aetiologies, for example both in @DISEASE$ (HD) and cancer @PHENOTYPICFEATURE$, the outcome is a similar impairment and mortality.	false
+9fe5dd994a735260f7180d2bcaa08f1591d2be7e	We report on a high level of octapeptide matching between HCV, HIV-2, MPV, MUV, EBV, HHV-6, and CMV, and human brain antigens that, when altered, have been specifically associated with neuropathologies such as amyotrophic lateral sclerosis, spinocerebellar ataxia, frontotemporal degeneration, @DISEASE$, Parkinson disease, cognitive impairment, aphasia and @PHENOTYPICFEATURE$.	false
+276eae261bd85a255e101fa49dc12431c3dd59cc	Dysfunction and mutations in dynamin have been implicated in the pathophysiology of various disorders, such as Alzheimer's disease, Parkinson's disease, @DISEASE$, Charcot-Marie-Tooth disease, heart failure, schizophrenia, epilepsy, cancer, dominant @PHENOTYPICFEATURE$, osteoporosis, and Down's syndrome.	false
+67a0b408ba7c66e56b2e6229ec509422a4711f8f	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$ (BT), cerebral palsy (CP), dystonia, epilepsy, @DISEASE$ (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (MD), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+f5cd14a1cff925d0dfd27b605e9421f63df30a4d	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$ (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (@DISEASE$), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (MD), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+ac93a2bc1bc9fbf5c8fd0ddac2a051ebe526bb7d	Excitotoxic cell death is hypothesized to contribute to numerous neuropathologic conditions, including hypoxic/ischemic encephalopathy, @PHENOTYPICFEATURE$, Parkinson's disease, and @DISEASE$.	false
+7b890588a65d41a7b313a3214168f43706cde04e	This review summarizes the current state of regenerative stem cell transplantation divided into seven conditions for which trials are currently active: demyelinating diseases/spinal cord injury, amyotrophic lateral sclerosis, stroke, Parkinson's disease, @DISEASE$, @PHENOTYPICFEATURE$ and peripheral nerve diseases.	false
+f9208c315808b6c6b0f8e2682538a1f7267b4556	The @DISEASE$ is characterized by trigonocephaly and associated anomalies, such as @PHENOTYPICFEATURE$, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies.	false
+c0926a5bdee11b675652080a2053a62a4e3b65ef	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$ disorder caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase.	false
+959a4b36b16601243afa1b8b8ff73a253b279447	The proportion of these two tissue types relative to body mass provides an indication of the extent of muscle tissue destruction, i.e., the progression and severity of the disease.In this study we use @DISEASE$ as an example to report the new possibility of using bioimpedance analysis (BIA) to assess the relative proportion of fatty and muscle tissue in diseases associated with @PHENOTYPICFEATURE$, thus enabling the assessment of disease progression and the effectiveness of treatment.	false
+0254a747e66462d53b67da8fa6ef200dac90ad1b	Infantile @DISEASE$ (IPD) is a fatal, autosomal recessive @PHENOTYPICFEATURE$ disorder.	false
+d7af04fe5ac5b89c39d8acd901d094715cc32cb6	Impaired autophagy contributes to @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+56a45893f3f9214fe7cbe3e05150b178f5db2ddd	Moreover, the failure of autophagy in @DISEASE$ could contribute to @PHENOTYPICFEATURE$ and disease progression and is thought to compromise the efficacy of enzyme replacement therapy (ERT).	false
+f6335cb2b626e90ca0247c5bb93a57141f53b8cf	To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with @PHENOTYPICFEATURE$, in others with myotonia congenita, in others with infantile @DISEASE$, in others with Prader-Willi syndrome, and in 4 age-matched controls.	false
+77d726445b167b0207decdc924b3cc346481510d	Nine patients (6%) with infantile-onset @DISEASE$ experienced an @PHENOTYPICFEATURE$ or cardiopulmonary arrest soon after the induction of general anesthesia.	false
+ead9175011fb234b3765006edc3630c958c08b81	These microRNAs are known to modulate the expression of genes involved in relevant pathways for @DISEASE$ pathophysiology (autophagy, muscle regeneration, @PHENOTYPICFEATURE$).	false
+b2376f3e430f1893ca67cbb1842238ba0924ecc2	The purpose of this study was to characterize a possible association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fa925ce6e73b77ffe551b1142bde0727dbfcdb37	We identified three children with @DISEASE$, atrioventricular (AV) block and simple @PHENOTYPICFEATURE$.	false
+e0ece8fa861888493aceec0c1ea0fff1cb1f7e7f	@DISEASE$ associated with @PHENOTYPICFEATURE$ in a female.	false
+82299d7a5784b9ce49700d7c373d664bf9dcebef	@PHENOTYPICFEATURE$ and @DISEASE$ (CaV1.2	false
+9acd591f7519f183c68fc96ca9b9c3b679a5d493	A rare association of @DISEASE$ and @PHENOTYPICFEATURE$: Timothy syndrome (LQT 8).	false
+98d03a0313f7fc632559e3b555a8fada8c6d739f	@DISEASE$ associated with @PHENOTYPICFEATURE$ identified in females.	false
+98630feb2fe106c6ab855da1f759655e326e3e57	A new form of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+8c78af1c8418603b6d6faa831a5fde7e87a1a781	The association of @PHENOTYPICFEATURE$ with @DISEASE$ may provide insight into the mechanisms underlying both disorders.	false
+700e35dbd52a6be0ba6e6d513a0bcab615e99b7b	Endocardial implantation of a cardioverter-defibrillator in a 13-month-old child affected by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fc8fbae5e8e5c387c67dcb05816d8f0ed1c79fcc	deletion: @DISEASE$, renal hypoplasia and @PHENOTYPICFEATURE$.	false
+d8b54ca9065b40405ae595621dd7444cf42e342b	Mycobacterium tuberculosis infection complicated by @DISEASE$ with @PHENOTYPICFEATURE$.	false
+af58aa42ddd9f8934c567592995ba1fb9a526414	We describe the first patient, to our knowledge, to receive a diagnosis of active tuberculosis and concurrent, severe neurological @DISEASE$, including @PHENOTYPICFEATURE$.	false
+18571972705b857cf3547535020f69bd42610568	These included trisomy 21, @DISEASE$ type II, persistent M?llerian duct syndrome, supernumerary digits and segmental @PHENOTYPICFEATURE$.	false
+f17fc038f8cc042893757c22c2238f9087708f7d	The @DISEASE$ of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with @PHENOTYPICFEATURE$, except for one patient with pulmonic stenosis.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+b0e4d4ae89ae3f0e996e00276165615f75f00145	@DISEASE$ in a patient with @PHENOTYPICFEATURE$ position.	false
+9529632062a70394b573176f2d2f3820de6a0f53	The long and the short of long and short @DISEASE$ @PHENOTYPICFEATURE$.	false
+a9e881762d8bae914c8a944634dd4afb4c9dbf8d	Bilateral recession of medial rectus muscles has resulted in improvement of deviation, @PHENOTYPICFEATURE$ position, and globe retraction in patients with unilateral esotropic @DISEASE$.	false
+430adc3138018dbf5bb4a2de40fe24fda07f71c4	@PHENOTYPICFEATURE$ were the most frequent craniofacial features in both @DISEASE$ and RRS.	false
+052355cbd9f84798a03ac81d84baaca0e36f2617	In this article, we present a one-and-a-half-year-old male patient who had @PHENOTYPICFEATURE$ position, and was diagnosed as having @DISEASE$.	false
+18b8038188148da2e914ab739cf129a95ff5b594	We report on the case of a patient with @DISEASE$, developmental delay and particular facial features (horizontal and flared eyebrows, long and smooth philtrum, @PHENOTYPICFEATURE$, full lower lip and full cheeks).	false
+51f4841d007570c5029e126142dde2eb7cb8f109	In the presence of diabetes, serum adiponectin is positively associated with @PHENOTYPICFEATURE$ and diabetes @DISEASE$.	false
+30c953dfe6e104ccf65c5b4927976313f4232338	A young age, small polyps, and short @DISEASE$ of @PHENOTYPICFEATURE$ may increase the possibility of benefiting from VT.	false
+34b35575da5c7491ae83a31291eb60005b493229	were strongly associated with @PHENOTYPICFEATURE$ @DISEASE$.	false
+d752753dc8aa728a28dd3023c5ddddcc01328f4a	Data collected included type of @DISEASE$, gender, family history for strabismus, @PHENOTYPICFEATURE$ position, versions, strabismus measurements, associated ocular and/or nonocular abnormalities, and amblyopia status.	false
+c829a2638f119c3773172700036908aceb733b5c	This family demonstrates phenotypic variability of FGF14 deletions (@DISEASE$), @PHENOTYPICFEATURE$ sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis.	false
+cae4f782531e7d7212fd05979d4ca9114c9216ef	Richard Cornall and collaborators recently developed a mouse model of Ligase @DISEASE$ with @PHENOTYPICFEATURE$ and immunodeficiency due to a defect in nonhomologous end-joining (NHEJ) of DNA double-strand breaks.	false
+a07be9ec0f271ea9f6b79977cde9d7d09ba38338	The clinical phenotype of Ligase @DISEASE$ (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, @PHENOTYPICFEATURE$, developmental delay, and immunodeficiency.	false
+0a793e3c7c5e2b88d9f551264dd277564d198215	Camptomelic dysplasia (@DISEASE$) is a congenital @PHENOTYPICFEATURE$ skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+434d350bf68cd2f41712a3c08cd0e7b023f0a139	Mutations within the FKRP gene can result in @DISEASE$ associated with mental retardation and @PHENOTYPICFEATURE$.	false
+9e5aaefcaf34aad19ed9195fbc12f2ea3203a623	After adjusting for sociodemographic and clinical factors, @PHENOTYPICFEATURE$ during pregnancy is associated with persistent @DISEASE$ (RR?=?1.36, 95% confidence interval: 1.01-1.84).	false
+a079988b1b514cbc1717aead583e70e1e5d60730	The relationship between @PHENOTYPICFEATURE$ in pregnancy and persistent common mental disorder in the perinatal period (sleep disturbance and persistent @DISEASE$).	false
+9d0edbb97185f43191e2599e2997067cca17106c	The @DISEASE$ prevalence ratios were from 4 to 5 times higher among those who reported @PHENOTYPICFEATURE$, which was the only factor associated with the occurrence of CMD.	false
+cf0288731898d40e06108e25c4fa460d7245e0dc	The CMD prevalence ratios were from 4 to 5 times higher among those who reported @PHENOTYPICFEATURE$, which was the only factor associated with the occurrence of @DISEASE$.	false
+395304416078dd56595ab8ea6f642e7ceb43b8aa	We report a patient with congenital muscular dystrophy (@DISEASE$), developmental brain defects, and @PHENOTYPICFEATURE$.	false
+843146ba83ef802efa27bce8ecf1cdef5d1e076b	The aim of this study is to examine the relationship between @PHENOTYPICFEATURE$ in pregnancy and persistent @DISEASE$ among low-income pregnant women living in Brazil.	false
+6133ef43dfbaf961bc13614029a12d5023fdd431	Diffuse white matter changes on brain imaging and @PHENOTYPICFEATURE$ are associated features of merosin-deficient congenital muscular dystrophy (@DISEASE$).	false
+849476353387841792ff9a271a37072a05c39347	The incidence of symptoms of @DISEASE$ were: 11% for distress, 28% for anxiety/depression, 12% for @PHENOTYPICFEATURE$, 11% for eating disorders and 22% for adverse alcohol use (13% for two simultaneous symptoms of CMD).	false
+97253efc6725dfaf38e1f070b4eeb34b02489d44	The incidence of symptoms of CMD were: 11% for distress, 28% for anxiety/depression, 12% for @PHENOTYPICFEATURE$, 11% for eating disorders and 22% for adverse alcohol use (13% for two simultaneous symptoms of @DISEASE$).	false
+c9e9468e9db18a7f3689031b6aebf132200aa2cd	Symptoms of @DISEASE$ included in the study were related to distress, anxiety/depression, @PHENOTYPICFEATURE$ and adverse alcohol use.	false
+57e0b8f631de7c6e8f5502eb7449feb3e800a4d7	From these observations, @DISEASE$ seems like a lethal rhizo/mesomelic @PHENOTYPICFEATURE$, early-onset dysplasia with autosomal-recessive inheritance.	false
+8c496ca32bdc677578abc4bafa9312c7a8d0ec3f	The hallmarks of this affection, also called @DISEASE$, are @PHENOTYPICFEATURE$, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and a remarkable advance in skeletal maturation.	false
+71eabad04bdc1673a6108b40913d59c35d099ca7	@PHENOTYPICFEATURE$ with @DISEASE$ and Polydactylism.	false
+f5e7c95355e73444ed5fd3dccdcc645ff75231b9	@DISEASE$, @PHENOTYPICFEATURE$, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?	false
+5025782331a87755b2b3ca1c623f5ccdb9145530	Typically, NARP syndrome is characterized by developmental delay, seizures, dementia, @DISEASE$, ataxia, @PHENOTYPICFEATURE$, and proximal weakness.	false
+d3199f087ac8c030bf146757ece34ec3831405e6	Using next-generation sequencing for the diagnosis of rare disorders: a family with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4df0bcd80b08295f1ae1a9b6289da047e5e2221d	Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, @DISEASE$, @PHENOTYPICFEATURE$, intellectual impairment and varying degree of renal abnormalities.	false
+e520237b7e4523814dbe94f3d6e51b001c4d094b	The patient presented with @DISEASE$, polydactyly, mental retardation, obesity and @PHENOTYPICFEATURE$.	false
+e520237b7e4523814dbe94f3d6e51b001c4d094b	The patient presented with @DISEASE$, polydactyly, mental retardation, obesity and @PHENOTYPICFEATURE$.	false
+c224569a9d6c9a57cae32e97ed11fea70616c305	Refsum's disease is a neurological syndrome characterized by adult-onset @DISEASE$, anosmia, @PHENOTYPICFEATURE$ and phytanic acidaemia.	false
+a08b57dad5d52306cb97089eeb3ff9ff792cf10a	The Laurence-Moon-Biedl syndrome is characterized by features of familial occurrence, @DISEASE$, obesity, polydactyly, @PHENOTYPICFEATURE$ and mental retardation.	false
+2e1856e14576915d8e479d3feda4043d76f60204	Familial nephropathy associatdd with @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+4a69bcd41c7805f290a7226970c4a698dda73967	This is the largest study of the natural history of @DISEASE$, adding valuable clinical information to the care of these individuals including behavioral and @PHENOTYPICFEATURE$ data, vision changes, and hearing loss.	false
+5225040dbf7c4f13d3945e2c932726932fff6394	We also report on feeding and @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+dcdcc655410669c64c068e411be0eb50a25addd1	MRI abnormalities associated with sSAH were prior hemorrhages, microbleeds, severe leukoencephalopathy and hemosiderosis suggesting @DISEASE$ (CAA; n = 9), vasogenic @PHENOTYPICFEATURE$ in parieto-occipital areas compatible with a posterior reversible encephalopathy syndrome (PRES; n = 3), cortical venous thrombosis (n = 2) and concomitant acute cortical stroke (n = 3).	false
+d96c7848cbc16f90759347397c0a885d98b419ff	@DISEASE$-related inflammation (CAA-ri) is characterized by vasogenic @PHENOTYPICFEATURE$ and multiple cortical/subcortical microbleeds, sharing several aspects with the recently defined amyloid-related imaging abnormalities (ARIA) reported in Alzheimer's disease (AD) passive immunization therapies.	false
+66e8449b82b4e3a1aa1a8671e4bf33b3603e7781	Oculo-facio-cardio-@DISEASE$ (OFCD) is an uncommon multiple congenital anomaly syndrome that is characterized by congenital cataracts, multiple minor @PHENOTYPICFEATURE$ features, congenital heart defects, and dental anomalies including canine radiculomegaly and oligodontia.	false
+6866b7b286d23776fd63ee52cee62cc697c21ecc	Here, we present clinical and molecular findings in a male patient with clinical signs of @DISEASE$, developmental delay, short stature, microcephaly, and @PHENOTYPICFEATURE$.	false
+73a053199de587e6fb8d02371111263d800855d9	When the @DISEASE$ muscle is cut, subcutaneous @PHENOTYPICFEATURE$, muscular superficial hemorrhage, pallor, adherence, and increased thickness and density are observed.	false
+0d79d7ad6387c0fd27f28df41c17878201ad8a36	@PHENOTYPICFEATURE$ and oxidative damage cooperatively fuel axonal degeneration in @DISEASE$.	false
+2983b3aef2d8895546ccc8f6b3a71a4b286f8254	Aerobic cultures, obtained with the @DISEASE$-Senturia middle ear @PHENOTYPICFEATURE$, yielded Pseudomonas aeruginosa in 98%, enteric gram-negative bacilli in 33%, staphylococci in 25%, and Haemophilus influenzae in 12%.	false
+a03a86f657e05ddce32f0a7f087a674813a988c3	The role of @PHENOTYPICFEATURE$ in @DISEASE$ and other leukoencephalopathies.	false
+4d3f1c557e6b8e85e68c0dee6e698ebb26735581	Postural stability, @DISEASE$ and developmental @PHENOTYPICFEATURE$.	false
+ad3b5e8bf3fd0b8ba75272af3b37c95e9b4e8589	@DISEASE$ in @PHENOTYPICFEATURE$ children, adolescents, and young adults: North Carolina and Michigan studies.	false
+ddd114e054d48319ccd027745d875f408a957c80	The @DISEASE$ and/or @PHENOTYPICFEATURE$ groups also showed a shift to a lower modal frequency of physiological tremor.	false
+03861b4b9ecc77c57fbae2ce1e427d3b337d47be	The prevalence of @DISEASE$ in a @PHENOTYPICFEATURE$ population.	false
+af9663daef5bdbaadf06f37650bcd4704c8c1b78	It has a well-known side effect profile, including agranulocytosis, decreased @PHENOTYPICFEATURE$ threshold, and @DISEASE$.	false
+585622afccff0367c354bd4744f178201ef214fe	Facial stereotypic movements and @DISEASE$ in a @PHENOTYPICFEATURE$ population.	false
+a4c358687f6a8d39e4cfd4de133429bce8296670	@DISEASE$: probing @PHENOTYPICFEATURE$ with promethazine.	false
+b932b815a6bf7bc7985fd17630f233b648fca8fe	An assessment was made of the orientation and variability in postural center of pressure patterns in individuals with @DISEASE$ (TD) and/or developmental @PHENOTYPICFEATURE$ during quiet standing.	false
+ec7c036d424454c894f55fe1679e209a5f0441cb	@DISEASE$ in young @PHENOTYPICFEATURE$ individuals.	false
+b95e3fb398fbe95b0445938f3ee38c05f3193daf	Arm tremor, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+34d41274a5b1d1bd18ca579e5785ee340deb6435	We studied a child who presented at birth with @PHENOTYPICFEATURE$ and was subsequently found to have a @DISEASE$.	false
+d409d1d97c6d5e32d6eea026b2884b84db888902	rechallenge with @DISEASE$4 @PHENOTYPICFEATURE$ cells.	false
+23eb0a49f6c79f3fa2f7e4b84cfe1c8934929f2a	We compared the incidences of @PHENOTYPICFEATURE$ (RF) in patients treated with colistimethate sodium (@DISEASE$) or PMB for ?48 h.	false
+73fd116d13ac5c2538919d51c920cf6d4c34be6d	Phenotypic features not previously described for DPAGT1 @DISEASE$ included restricted ocular abduction and long finger flexor @PHENOTYPICFEATURE$.	false
+4339692e2166ccd1da09ce280d009cc278d90b44	Addition of @DISEASE$ to TNM-stratified tumours showed a prognostic effect in stage 2 tumours; CMS3 @PHENOTYPICFEATURE$ had a significantly lower overall survival (P?=?0.006).	false
+b3f13b08d2198dec60578f60dc23cfaffa34b327	Addition of CMS to TNM-stratified tumours showed a prognostic effect in stage 2 @PHENOTYPICFEATURE$; @DISEASE$3 tumours had a significantly lower overall survival (P?=?0.006).	false
+7924070d0dd048d97c12647c86ef5234cc2cf96e	Addition of CMS to TNM-stratified @PHENOTYPICFEATURE$ showed a prognostic effect in stage 2 tumours; @DISEASE$3 tumours had a significantly lower overall survival (P?=?0.006).	false
+056659498f1aa54e8add9a6beb7dd9f265c2d03a	Addition of CMS to TNM-stratified tumours showed a prognostic effect in stage 2 tumours; @DISEASE$3 @PHENOTYPICFEATURE$ had a significantly lower overall survival (P?=?0.006).	false
+afa69d41756f5ca16700e86c08bd1dc12d6056d4	Addition of @DISEASE$ to TNM-stratified @PHENOTYPICFEATURE$ showed a prognostic effect in stage 2 tumours; CMS3 tumours had a significantly lower overall survival (P?=?0.006).	false
+cb9d70e8052ed96424c1c9f5d5d6f7c4af889752	Addition of @DISEASE$ to TNM-stratified tumours showed a prognostic effect in stage 2 @PHENOTYPICFEATURE$; CMS3 tumours had a significantly lower overall survival (P?=?0.006).	false
+a9badbd13f140f1c2f05b94c8f2bc75f8f7a2542	@DISEASE$ are clinically diagnosed by a history of fatigability and @PHENOTYPICFEATURE$ since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies.	false
+0a9661dbdacd0591e037b71c31f887caa186ac0b	@DISEASE$ and PET for solid @PHENOTYPICFEATURE$.	false
+e0cb942540aa192e15172b11715ff562875e6bca	Primary PPs include entities such as hyperkalemic PP, hypokalemic PP, paramyotonia congenita von Eulenburg, Andersen's syndrome, thyrotoxic PP, distal renal tubular acidosis, X-linked episodic @PHENOTYPICFEATURE$ syndrome and @DISEASE$.	false
+2ade272e709b475e2b7ce3b83820faa89ccf5485	The QCP group was significantly older with a statistically significant higher prevalence of @PHENOTYPICFEATURE$ and higher @DISEASE$ risk scores.	false
+4f5370b5b62ae166ab7fcc34083f3869354453cd	Despite obvious pulmonary arterial hypertension and right heart @PHENOTYPICFEATURE$, @DISEASE$ patients did not show any symptom or echocardiographic parameter of heart failure.	false
+b99fab43b9aae5388b336951f295523b3acb3130	The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral @PHENOTYPICFEATURE$, and mild @DISEASE$.	false
+982e65b6816da19c2bf01940696979e05fef07fc	@DISEASE$ with postaxial polydactyly associated with @PHENOTYPICFEATURE$ and bone abnormalities.	false
+9d2d4cfc6531154c970689e4aef1bb3325dd27a0	@DISEASE$ @PHENOTYPICFEATURE$ basal ganglia syndrome (CHBG) is a rare condition that manifests within the setting of uncontrolled nonketotic diabetes mellitus.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+75e48229ddf70df1bf18bd4e7379ce91ded10a28	The utility of such applications for diagnosis, prognosis and follow-up are illustrated here by a number of examples: feline AIDS resulting from FIV infection, @DISEASE$ in Irish setters, deep pyoderma in German shepherds, Immune-mediated Thrombocytopenia, canine Systemic Lupus Erythematosus and Leishmaniasis, @PHENOTYPICFEATURE$ and Lymphoma.	false
+0e461032a379a9a5d743e68e85725e688194b7d5	The aim of the study was to investigate psychosocial function in patients with @PHENOTYPICFEATURE$/hypopnea syndrome (OSAHS), before and after mandibular advancement splint (@DISEASE$) therapy.	false
+bd068284b945602d80d88810b7eafa395f72de85	@PHENOTYPICFEATURE$ in young broiler chicks due to poor nutrient metabolism, commonly known as malabsorption syndrome (@DISEASE$), is a widespread problem caused by enteric infections with a combination of pathogens mainly viruses.	false
+5cde4d5df36c3671561c221ac066e2b98a5d1a72	Macrophage activation syndrome (@DISEASE$) was present in 11.9%, @PHENOTYPICFEATURE$ in 11.3% patients.	false
+519462fc0855301bd6831da108e9185bc4a6365e	We report here the first case of a patient with an undiagnosed @DISEASE$ presenting with an acute @PHENOTYPICFEATURE$.	false
+06277c1685d2f59f27f75268482e6a907e98c02e	Various causes of malabsorption syndrome (@DISEASE$) are associated with intestinal stasis that may cause small intestinal bacterial @PHENOTYPICFEATURE$ (SIBO).	false
+33b14de113fb01a933d984bced5f9e366098a860	ECMO has been used in treatment of neonates with a variety of cardio-respiratory problems, including meconium aspiration syndrome (@DISEASE$), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis/pneumonia, respiratory distress syndrome (RDS), air leak syndrome, and @PHENOTYPICFEATURE$.	false
+b6bf726097dc56cff1f220e133ac311622e93025	ECMO has been used in treatment of neonates with a variety of cardio-respiratory problems, including @DISEASE$ (MAS), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis/pneumonia, respiratory distress syndrome (RDS), air leak syndrome, and @PHENOTYPICFEATURE$.	false
+d131215810997eb05a01dee4f2b3f1df51bfa737	ECMO has been used to treat a variety of cardio-respiratory problems, including @DISEASE$ (MAS), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis, and @PHENOTYPICFEATURE$.	false
+89064bbcf60fa1693d0e2390fb30c7b99110bb3b	ECMO has been used to treat a variety of cardio-respiratory problems, including meconium aspiration syndrome (@DISEASE$), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis, and @PHENOTYPICFEATURE$.	false
+6d6991c0eedf1e8c4208d07dffa3480b9a74a7b4	It is also often complicated with @PHENOTYPICFEATURE$, osteoporosis, and sometimes macrophage activation syndrome (@DISEASE$) develops, a potentially fatal disease.	false
+fdead5567e2a38b1c192a8ed6f636bbc2ace0669	Myopericarditis with signs of @PHENOTYPICFEATURE$ associated with @DISEASE$ is a rare clinical presentation of systemic juvenile idiopathic arthritis.	false
+ff45307c8aa5ebd4aed6e89437bc260b13b69684	Malabsorption syndrome (@DISEASE$) is an economically important disease of young, commercially reared broilers, characterized by @PHENOTYPICFEATURE$, defective feather development and diarrheic faeces.	false
+d3516e4c786e0df40dc49b166e79c999fef22a8b	The UPF3B gene, implicated in intellectual disability, @DISEASE$, ADHD and childhood onset @PHENOTYPICFEATURE$ regulates neural progenitor cell behaviour and neuronal outgrowth.	false
+06a81fdef0b155b722f4f0bfe49a5fa93ce2f538	Beyond Epilepsy and @DISEASE$: Disruption of GABRB3 Causes Ocular @PHENOTYPICFEATURE$.	false
+bb975f9bfcb649ca487a6cf6c78b2658280b0249	The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+07afd8b8049d7567355f79c76a57e8c0b0d19e24	The observation in this case report and in two previous reports which documented association between oculocutaneous @PHENOTYPICFEATURE$ and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and @DISEASE$.	false
+c2cfaea0ffb31fdb77319bdade72b64eb8386ca4	The observation in this case report and in two previous reports which documented association between oculocutaneous @PHENOTYPICFEATURE$ and childhood autism both in the affected individuals and families of individuals with @DISEASE$, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism.	false
+ec3f721d97c0e6168504ebe9d04f91286524f57b	The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with @DISEASE$, raises the question of a possible genetic and clinical association between oculocutaneous @PHENOTYPICFEATURE$ and childhood autism.	false
+e9325233454abaa60a7da0adbc8de87c9e858043	Clinically, TSC manifests with epilepsy, intellectual disability, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9eea030357333f6186d606b70d192c71ae9315a1	DYRK1A-haploinsufficiency in mice causes @DISEASE$-like features and @PHENOTYPICFEATURE$.	false
+56b36938a668ad33b8c9a81ca3777c8cb6481676	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), @DISEASE$, childhood onset @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder.	false
+9c1f50b7f3f033fc898f2189fb2f13eb8e63f5b6	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), @DISEASE$, childhood onset schizophrenia and @PHENOTYPICFEATURE$.	false
+5a7c07309b62db03069917a64c46d580bc87e0e4	Recent reports in the literature have suggested a link between @PHENOTYPICFEATURE$ and the behavioral syndrome of @DISEASE$.	false
+1b2fc25f21e02cb942c8a711e7a76fc48d40b56e	WHAT THIS PAPER ADDS: There is a bidirectional interplay between @DISEASE$ symptoms and @PHENOTYPICFEATURE$.	false
+887c5419afc8aaa9bfc01c83c1a0a61cc9d9aaa5	The impaired social cognition can be manifested in behavioral problems like @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0ec00e8d55ac32bc17a83e981d0b86a291760181	@PHENOTYPICFEATURE$ are associated with specific sensory sensitivities in children with @DISEASE$.	false
+499b9833e2d590a70d24651aec7e110f2b3314a1	@PHENOTYPICFEATURE$ and urolithiasis in a case of @DISEASE$.	false
+ef48340c408de54e2775f5b39a709b1a30acfb53	Over the past couple years, items to the Outcomes Measurement System (@DISEASE$) Interview included questions such as "primary language" and boxes to indicate if the participant was "@PHENOTYPICFEATURE$."	false
+e70b7aac975b071ed7e052f5634458e692f31f58	Patients suffering from @PHENOTYPICFEATURE$ and metabolic syndrome (@DISEASE$) manifest a dysregulation in hemodynamic response during exercise, with an exaggerated systemic vascular increase.	false
+9d930f3e4090498e1bc17874e738b06481f72770	The results of the present investigation suggest that @DISEASE$ patients have an exaggerated vasoconstriction in response to metaboreflex activation and that this fact is not due to @PHENOTYPICFEATURE$ per se.	false
+13d28bad1254535810b076d5537b8cee55c7a183	Too great a release into the general circulation because of diminished trapping of fatty acids released from chylomicrons appears to be critical in the pathogenesis of the dyslipoproteinaemias associated with hyperapo B or FCHL and @DISEASE$ @PHENOTYPICFEATURE$.	false
+42b0b34fbc3ca15b41960b08ca4bd6c314ad8e43	thoracicus into major veins of systemic circulation are associated with pathogenesis of isolated @DISEASE$ obesity syndrome and metabolic syndrome, which wet by @PHENOTYPICFEATURE$.	false
+0202989ea6f9f4100175c4e1a5bb763fbcfaf294	thoracicus into major veins of systemic circulation are associated with pathogenesis of isolated @DISEASE$ @PHENOTYPICFEATURE$ syndrome and metabolic syndrome, which wet by obesity.	false
+b09c3197010cbe0faca404e33ca5bb87d13cdde4	A high-fat diet was associated with @DISEASE$ and may represent a confounding factor between @PHENOTYPICFEATURE$ and OME.	false
+28d7fbf2ae5a87f363da5d5dce86b40054b3d78a	This study identify alterations of the gut microbiota in a sample of healthy Mexican women (CO), women with @PHENOTYPICFEATURE$ (OB), and women with obesity plus metabolic syndrome (@DISEASE$).	false
+588df102d0c862f1cac1b871251c590423872844	This study identify alterations of the gut microbiota in a sample of healthy Mexican women (CO), women with obesity (OB), and women with @PHENOTYPICFEATURE$ plus metabolic syndrome (@DISEASE$).	false
+040c0a26b58188b9f42a2620ad7aef9101af1c64	It is possible to validly consider that difference in outflow from enterocytes to veins of portal system (which includes veins of omentum) of medium chain fatty acids in the form of short triglycerides can directly input into pathogenesis of syndrome of isolated @DISEASE$ @PHENOTYPICFEATURE$ and metabolic syndrome.	false
+d78377d7b37b67efcc321733dfa42c6fbdd61c78	The purpose of this paper is to establish the frequency of overweight and obese patients in an urban inner city oral and maxillofacial surgery (@DISEASE$) center, to provide an overview of the commonly applied standards and methods of establishing obesity, and to discuss the clinical and surgical implications that @PHENOTYPICFEATURE$ has on the dispensing of office oral and maxillofacial surgical and anesthetic care.	false
+f60586baf5d4a684c5013eb87e7ad88632809c2e	The purpose of this paper is to establish the frequency of overweight and obese patients in an urban inner city oral and maxillofacial surgery (@DISEASE$) center, to provide an overview of the commonly applied standards and methods of establishing @PHENOTYPICFEATURE$, and to discuss the clinical and surgical implications that obesity has on the dispensing of office oral and maxillofacial surgical and anesthetic care.	false
+668061839f3526159b8b8e6b17eb64dc086d8700	@PHENOTYPICFEATURE$ in three patients with @DISEASE$ (CDG Ia).	false
+0d0977e0a73fa2845df8668a89536099d45f43ce	Aortic valve stenosis (@DISEASE$) is associated with significant morbidity and mortality, especially in the presence of symptoms and echocardiographic signs of left ventricular remodelling (i.e. increase in left ventricular mass, left @PHENOTYPICFEATURE$, and systolic dysfunction).	false
+fd29dff886036d1ee3c68664a7081e590c235713	Our results indicate that metabolic reprogramming resulting from @DISEASE$ enhances the ability of ECs to stimulate @PHENOTYPICFEATURE$ cell proliferation and metastasis through stimulation of lysosome-anchored Rab7 activity.	false
+9119a205230a26dbc94c1c2d00cd27563f6bd2d2	One major manifestation in @DISEASE$ (Lipa(-/-)) mice is an increase of @PHENOTYPICFEATURE$ growth and metastasis associated with expansion of myeloid-derived suppressor cells.	false
+79182fbce4196b413b6acea1f4a15eacf5597370	Dental management of @DISEASE$ associated with @PHENOTYPICFEATURE$ and hypodontia.	false
+94563a2a8fb86ffc34e3386804edcddea3be6bd7	Our findings also clarify the mechanism underlying NADK2 deficiency and suggest that this disease should be ruled out in cases of @DISEASE$, especially those with @PHENOTYPICFEATURE$, and neurological phenotypes.	false
+8a6465b57356e6f0e301ee3f12b769dae7a431f6	The mixed motor and sensory disturbance which is characteristic of 'critical illness polyneuropathy' could be explained by a combination of the pure @DISEASE$ and the mild @PHENOTYPICFEATURE$.	false
+7736a829d85a817959cc2d05302cf4761c49d951	Long-term outcome of patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+953e82e876b5c15f10e2e4ad00012c0fa1de6432	Giant osteoma of the cranial vault with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e1bf9dd49845923c00396ea40223056b9fe976f3	High blood pressure and hyperinsulinaemia in @DISEASE$ and in @PHENOTYPICFEATURE$.	false
+2b61ebc3f592ad6b1c28379682f449995d508f86	Left ventricular hypertrophy (LVH) is the most common @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2c81882a7e099db4583dfed25ad3ee5a0dd4f81d	Growth hormone excess causes @DISEASE$, a disease characterized by @PHENOTYPICFEATURE$ of some tissues and multiple metabolic abnormalities.	false
+097efad35e96db715f4c8c7f1e449d4341faf68a	The most constant radiological features of @DISEASE$ include soft tissue hyperplasia, and increased joint spacing, especially in the limbs by articular cartilage @PHENOTYPICFEATURE$.	false
+254ac2b15cf9ad60d32b767ff9994631fcc27076	The most common manifestations of @DISEASE$ are acral and soft tissue @PHENOTYPICFEATURE$, diabetes mellitus, hypertension, and heart and respiratory failure.	false
+40262516315b502cfe05f45fa9d685f0e96f79cf	@PHENOTYPICFEATURE$ frequently are present in cats with @DISEASE$, and a complete cardiac evaluation should be considered in these patients.	false
+60ace2dda8a7be0e977bd1fa0f9bb1b281ec9551	Diabetes mellitus with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5dd28a53bffefe5076f50d9a86456976923a90e8	The diagnosis of @DISEASE$ and congestive @PHENOTYPICFEATURE$ were based on standard criteria.	false
+ab0b8468c4c899bc1523cfd573c485c3aea1a59a	Arthrogryposis multiplex congenita (@DISEASE$) is a spectrum syndrome of multiple persistent @PHENOTYPICFEATURE$ often accompanied by associated anomalies, including cleft palate, genitourinary defects, gastroschisis, and cardiac defects.	false
+9416d79d61034ff8450eac7761365f38ea5f6e7d	@DISEASE$ (AMC) is a spectrum syndrome of multiple persistent @PHENOTYPICFEATURE$ often accompanied by associated anomalies, including cleft palate, genitourinary defects, gastroschisis, and cardiac defects.	false
+edc6fe4e7df99dbab413c76af28b8fdbee953222	A 2-year-old boy was diagnosed with @DISEASE$, severe @PHENOTYPICFEATURE$, torticollis, vocal cord paralysis, and diminished lower limb movement.	false
+4d652e1c89fd892858229dc1cc3d7f682c592a63	We report the use of continuous spinal anesthesia in conjunction with intravenous nitroglycerin for the ex utero intrapartum treatment procedure in a woman with @DISEASE$, a rare syndrome characterized by rigid joints and @PHENOTYPICFEATURE$.	false
+bc0ab8679d7b76e3248ab27ccfc7a6fe34b00a89	Second child, currently 4-years-old, was ascertained at the age of 30 months with mild @DISEASE$ phenotype with cognitive and @PHENOTYPICFEATURE$.	false
+0479ebc8b1166659a6f1e29e2677c4e6cf596f7e	Amyoplasia, the most common @DISEASE$ condition, seems to be a nongenetic syndrome, leading to very characteristic upper and lower @PHENOTYPICFEATURE$.	false
+20afd60a05edce03d031c6707fd8b1887d5738f5	@DISEASE$ (AMC) is a syndrome with multiple persistent @PHENOTYPICFEATURE$, often accompanied by associated anomalies.	false
+8ec8bc7a29f8b2870259d66014c6102886f986a1	Arthrogryposis multiplex congenita (@DISEASE$) is a syndrome with multiple persistent @PHENOTYPICFEATURE$, often accompanied by associated anomalies.	false
+21c76e4d6528bc5f6e119b57c76253c564ee3a36	Lower @PHENOTYPICFEATURE$ and muscle weakness are common in children with arthrogryposis multiplex congenita (@DISEASE$).	false
+e7e496d0ee6ee9e7e276315bc96360fa19bd53ad	Lower @PHENOTYPICFEATURE$ and muscle weakness are common in children with @DISEASE$ (AMC).	false
+f9cc9f984a3e0a6f44a4e2e63de2562d238f1d56	The functional results after ileocystoplasty were studied in seven patients with @DISEASE$, irradiated bladder and @PHENOTYPICFEATURE$ dysfunction.	false
+5e8f54535a49f165161e71b54fd545ed82c818e5	Data from the final review suggests that common benign indications for cystectomy are @DISEASE$ (IC/PBS), @PHENOTYPICFEATURE$, hemorrhagic/radiation cystitis, infectious diseases of the bladder and miscellaneous conditions of the bladder such as endometriosis and total refractory incontinence.	false
+3f0b1912f7066e8e0e309e3ce2fe706685dd92cb	Data from the final review suggests that common benign indications for cystectomy are interstitial cystitis/painful bladder syndrome (@DISEASE$), @PHENOTYPICFEATURE$, hemorrhagic/radiation cystitis, infectious diseases of the bladder and miscellaneous conditions of the bladder such as endometriosis and total refractory incontinence.	false
+1d10230b1383bde7a9ef9cb9f20c7700fe50006d	Although the etiology of @DISEASE$/interstitial cystitis is still not known, there is increasing evidence showing that afferent hyperexcitability as a result of @PHENOTYPICFEATURE$ inflammation and urothelial dysfunction is important to the pathophysiological basis of symptom development.	false
+c4ae69a4c619b67867d0cf5fbe029a7bdf5a007a	While joint pain is characterized by a well-defined inflammatory process mediated by @PHENOTYPICFEATURE$ necrosis factor-? and interleukin, chronic muscle pain presents with enigmatic physiopathologic mechanisms, being considered a functional pain syndrome similar to fibromyalgia, irritable bowel syndrome, @DISEASE$ and chronic fatigue syndrome.	false
+69518ccb2469458153137bcaed012be156e7c981	The bladder lesions include bladder outlet obstruction, bladder pain syndrome, @DISEASE$, @PHENOTYPICFEATURE$ and diabetes.	false
+0bde631d6a8987bb03339ce2a2460f7efea506c0	The bladder lesions include bladder outlet obstruction, @DISEASE$, interstitial cystitis, @PHENOTYPICFEATURE$ and diabetes.	false
+21a6e06b01bd2fe7c8d1fba1e73d9b27236e9eda	The @DISEASE$ (PBS) is a progressive and painful disease of the bladder that may lead to fibrosis, @PHENOTYPICFEATURE$ and reduction of bladder capacity.	false
+0453e29645ac2cdd042153654b038d39e93dd736	Urinary diversion is the final therapeutic approach in several bladder pathologies including selected cases of bladder cancer, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5e8d75c089167001ce71e84394ad522761b2ba60	Percutaneous Tibial Nerve Stimulation (PTNS) has been proposed for the treatment of overactive bladder syndrome (OAB), non-obstructive urinary retention (NOUR), @PHENOTYPICFEATURE$, paediatric voiding dysfunction and chronic pelvic pain/@DISEASE$ (CPP/PBS).	false
+2c038edf6d2f9d1040ab1ba0c0d11a9d3951c835	Efficacy of cystectomy in patients with @DISEASE$ is greater than 80%, while efficacy in patients with @PHENOTYPICFEATURE$ is greater than 90%.	false
+e3c7b27cb45305fe4ba4a52848a41da03161b5ae	IPG efficiency rate for OAB, @DISEASE$, idiopathic urinary retention, and @PHENOTYPICFEATURE$ were 42.5, 72.4,	false
+c0a9c0428d8a79c52e9b1b5f291ca5c225ef2c5f	Conditions commonly treated in the pediatric pain clinic, including headache, abdominal pain, fibromyalgia, juvenile arthritis, @DISEASE$, cancer @PHENOTYPICFEATURE$, as well as perioperative pain studies are reviewed and discussed.	false
+d350fbe5f5cf466bd862af8f4cad9bcd9f7bedb5	@DISEASE$ (CRPS) is a chronic, progressive, and devastating pain syndrome characterized by spontaneous @PHENOTYPICFEATURE$, hyperalgesia, allodynia, altered skin temperature, and motor dysfunction.	false
+6016ffca7d6afc39131a1c677de28d672c48ec86	The largest symptom groups were (number of patients): Fibromyalgia (48); Spinal pain (20); @DISEASE$ (CRPS, 11); Peripheral neuropathic pain (12); and Atypical odontalgia or atypical facial @PHENOTYPICFEATURE$ (11).	false
+7f3e4fb319c6369fc4e67feb54b15090a8831808	Potential indications for SCS include @DISEASE$ (CRPS), postherpetic neuralgia, traumatic nerve injury, failed back surgery syndrome, refractory angina pectoris, peripheral vascular disease, neuropathic pain, and visceral @PHENOTYPICFEATURE$ (Guttman et al.	false
+f2483e9638691d5ef003b488bb03f92f2b468668	Potential indications for SCS include @DISEASE$ (CRPS), postherpetic neuralgia, traumatic nerve injury, failed back surgery syndrome, refractory angina pectoris, peripheral vascular disease, neuropathic @PHENOTYPICFEATURE$, and visceral pain (Guttman et al.	false
+f5a69425d9fc9996ca41f18027e7caefe30322d9	@DISEASE$ (CRPS) is characterized by a variety of clinical features including spontaneous @PHENOTYPICFEATURE$ and hyperalgesia.	false
+13ab5a033ab1f56abe5118452b4ecc7e14caef46	@DISEASE$ is an infrequently reported differential diagnosis that can be considered in patients with persistent facial @PHENOTYPICFEATURE$.	false
+4cf38452f8d4eba3c15b1a580858a342f8f5aa6c	@DISEASE$ (CRPS) is a chronic progressive disease characterised by severe @PHENOTYPICFEATURE$, swelling and changes in the skin.	false
+59c9acf97a28eee6c93351c027bd3e8bc1fa9903	@DISEASE$ (CRPS) is a chronic neuropathic @PHENOTYPICFEATURE$ disorder, and the incidence of CRPS is greater in women than in men by ~4:1.	false
+1b25692031bf040cd01be46361670f760264642d	A case report of ventriculoperitoneal shunt infection caused by Candida lusitaniae in a 6-year-old patient with @DISEASE$ and obstructive @PHENOTYPICFEATURE$ is presented briefly with emphasis on the course of antifungal treatment.	false
+0c79b2a2bed917e21f750cbc1939423197a2d93b	@DISEASE$ presenting as @PHENOTYPICFEATURE$ and severe bronchorrhea.	false
+794c6349344ad6f50807063d956356f7801f2761	@DISEASE$-like state in a patient with Down syndrome and @PHENOTYPICFEATURE$.	false
+406cfc1fe7153135934a99e22faa77ddd40051bd	Clinical features of @DISEASE$ in @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0bf7d6c498bff1fb0cee1eba7d807f7753868c32	The availability of the selective aromatase inhibitors letrozole and anastrozole--currently approved as adjuvant therapy for breast cancer--have stimulated off-label use of aromatase inhibitors in pediatrics for the following conditions: hyperestrogenism, such as aromatase excess syndrome, @DISEASE$, McCune-Albright syndrome and functional follicular ovarian cysts; hyperandrogenism, for example, testotoxicosis (also known as familial male-limited precocious puberty) and congenital adrenal hyperplasia; pubertal gynecomastia; and @PHENOTYPICFEATURE$ and/or pubertal delay in boys.	false
+bd2ab9b124cdeb1eb0ed5536ffeaaea128ab1d5d	A 29-year-old male diagnosed as having @DISEASE$ developed frequent @PHENOTYPICFEATURE$ attacks and was admitted to our hospital.	false
+d1308460369ab5b9c01c7e75d1984d34ab2fdb24	The results presented here enlarge the spectrum of mutations of the STK11 gene by identifying a de novo @PHENOTYPICFEATURE$ in a @DISEASE$ patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS.	false
+73f92e5d40ec1ae4225ee8c4f95e20ce9e1b2357	The results presented here enlarge the spectrum of mutations of the STK11 gene by identifying a de novo @PHENOTYPICFEATURE$ in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for @DISEASE$.	false
+42ce9f097d5b54fefc6c8e46c3fdcb7f8d74b847	The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo @PHENOTYPICFEATURE$ in a PJS patient and further support the hypothesis that STK11 mutations are disease-causing mutations for @DISEASE$ with or without a positive family history.	false
+971591a6c5f21bbaf2dec2e52160e2b22ba8358d	The results presented herein enlarge the spectrum of mutations of the STK11 gene by identifying a novel de novo @PHENOTYPICFEATURE$ in a @DISEASE$ patient and further support the hypothesis that STK11 mutations are disease-causing mutations for PJS with or without a positive family history.	false
+95590e1304da365a6cd09917a91da2f004b109b4	We report an adult case who presented @PHENOTYPICFEATURE$ attacks due to subclavian steal syndrome associated with the right aortic arch in a patient with @DISEASE$.	false
+55483b5e9b42facca7530343a69a23faf5503c0b	Analysis of DNA from both parents of the @DISEASE$ patient did not show this mutation, which is therefore a de novo @PHENOTYPICFEATURE$.	false
+b37952044131f64eab498a4df063012a55c09717	Furthermore, fractional anisotropy in a white matter network comprising frontal, thalamic, brainstem and left cerebellar white matter strongly and negatively correlated with @DISEASE$ @PHENOTYPICFEATURE$ scores.	false
+4fec8267adc2028502498d6a81ebf754c7f2acbf	Cannabinoid hyperemesis syndrome (@DISEASE$) is characterised by unrelenting nausea, recurrent vomiting, @PHENOTYPICFEATURE$ and compulsive, hot bathing behaviour.	false
+290f137c3e9742cb4c4ef6afe7c9ae8e9f771549	Cannabinoid hyperemesis syndrome (@DISEASE$) is characterised by unrelenting nausea, recurrent @PHENOTYPICFEATURE$, abdominal pain and compulsive, hot bathing behaviour.	false
+7d8297daad6ca1b1655da8b90e94e0b57a652f8c	Three women and 3 men, chronic consumers of cannabis, presented with typical features of the @DISEASE$, but the syndrome remained undiagnosed until then: nausea, vomiting, @PHENOTYPICFEATURE$ with morning ascendancy and loss of weight occurring in adult's of less than 50 years.	false
+6d036d001d212c9931872179558c4ff051e8f9af	Three women and 3 men, chronic consumers of cannabis, presented with typical features of the @DISEASE$, but the syndrome remained undiagnosed until then: nausea, @PHENOTYPICFEATURE$, abdominal pain with morning ascendancy and loss of weight occurring in adult's of less than 50 years.	false
+59d9e68e0b458aeddf0bb93e8e21af99d6f0a701	The cannabinoid hyperemesis syndrome (@DISEASE$) is characterized by cyclic episodes of nausea, @PHENOTYPICFEATURE$, and abdominal pain, and occurs in young adults with long-term cannabis use.	false
+fb067584b5a184dd9c81603421398772f9a9f18a	The cannabinoid hyperemesis syndrome (@DISEASE$) is characterized by cyclic episodes of nausea, vomiting, and @PHENOTYPICFEATURE$, and occurs in young adults with long-term cannabis use.	false
+6b491c0d2514f137169d7be09c72a654187722ad	@DISEASE$ is characterized by cyclical @PHENOTYPICFEATURE$, abdominal pain, and an unusual compulsion to take hot showers in the presence of chronic use of cannabinoids.	false
+203cb94b34401644a3e8f98533fdb2cf193ba426	@DISEASE$ is characterized by cyclical nausea and vomiting, @PHENOTYPICFEATURE$, and an unusual compulsion to take hot showers in the presence of chronic use of cannabinoids.	false
+52640c1eadf1b5bd3d783977b15818e719302504	Cannabinoid hyperemesis syndrome (@DISEASE$) consists of intractable emesis, @PHENOTYPICFEATURE$, and weight loss.	false
+7d691fb7273f27e9d8bd0ed479475d78040c1b83	Patients with @DISEASE$ often present multiple times to the emergency department (ED) with cyclical nausea, vomiting, and @PHENOTYPICFEATURE$, and are discharged with various misdiagnoses.	false
+2d59971c69cdb0cc6449dfb7d2f83b848f58e902	Patients with @DISEASE$ often present multiple times to the emergency department (ED) with cyclical nausea, @PHENOTYPICFEATURE$, and abdominal pain, and are discharged with various misdiagnoses.	false
+cc0061370b90e0101848f33950a350e08143fecd	Cannabinoid hyperemesis syndrome (@DISEASE$) is a rare constellation of clinical findings that includes a history of chronic heavy marijuana use, severe abdominal pain, unrelenting nausea, and intractable @PHENOTYPICFEATURE$.	false
+97d0f010e32ae6ffe875f8b66aa066d0824837e3	Cannabinoid hyperemesis syndrome (@DISEASE$) is a rare constellation of clinical findings that includes a history of chronic heavy marijuana use, severe @PHENOTYPICFEATURE$, unrelenting nausea, and intractable vomiting.	false
+56d5a2fcbd1f2f03348753e5d91c259129eec3bf	The cannabinoid hyperemesis syndrome (@DISEASE$) and the cyclic vomiting syndrome in adults (CVS) are both characterized by recurrent episodes of heavy nausea, vomiting and frequently @PHENOTYPICFEATURE$.	false
+4a2a788d0131bce2fbebe544eb063a2fc5fab74f	The cannabinoid hyperemesis syndrome (@DISEASE$) and the cyclic vomiting syndrome in adults (CVS) are both characterized by recurrent episodes of heavy nausea, @PHENOTYPICFEATURE$ and frequently abdominal pain.	false
+43b216b2ae6f135b825faf3ab483c34219c881e4	@DISEASE$ is an underappreciated cause of recurrent @PHENOTYPICFEATURE$ and is frequently misdiagnosed.	false
+0d563d119f527d9de3643b944abb721533d90aac	@DISEASE$ typically presents with cyclical vomiting, diffuse @PHENOTYPICFEATURE$, and relief with hot showers.	false
+aef0389add969c2816e9ac0bef284c509548e457	The @PHENOTYPICFEATURE$ was histologically an extranodal @DISEASE$.	false
+198889f4897f8be4c54b5c809e28587c85397eb6	Conjunctival @DISEASE$ is the most frequent @PHENOTYPICFEATURE$ of ocular adnexa.	false
+3b48236e6ef5e5c7220663f756a4b795e7517212	The latter patient was found to have high-grade @DISEASE$ with low-grade MALT lymphoma abutting the @PHENOTYPICFEATURE$.	false
+6421a17b75e35a65e3e0ea5df142e36330649298	The latter patient was found to have high-grade MALT lymphoma with low-grade @DISEASE$ abutting the @PHENOTYPICFEATURE$.	false
+204f3009d27cbcc1241760a2c289080bc6c62ab9	These results indicated that the @PHENOTYPICFEATURE$ were @DISEASE$.	false
+28f1f813db6ab3102a3ed11c394441a177e51424	Overall, the @PHENOTYPICFEATURE$ was diagnosed as a @DISEASE$.	false
+f74ddc924c0214c26868cbe5de74e8341bd1f0c7	@DISEASE$ is the most common orbital @PHENOTYPICFEATURE$.	false
+f1f60c27916141ad6d7023b271cf48144fbdc427	The primary @PHENOTYPICFEATURE$ was classified into four groups: MALT lymphoma, @DISEASE$ with a minor large B-cell lymphoma (<20%), large B-cell lymphoma with MALT lymphoma, and large B-cell lymphoma without MALT lymphoma.	false
+e9b43ecd57740893bf394143b59dc8f601cc8ee5	The primary @PHENOTYPICFEATURE$ was classified into four groups: MALT lymphoma, MALT lymphoma with a minor large B-cell lymphoma (<20%), large B-cell lymphoma with MALT lymphoma, and large B-cell lymphoma without @DISEASE$.	false
+bef0838836849151640ad1ebff277eb2023966b4	The primary @PHENOTYPICFEATURE$ was classified into four groups: MALT lymphoma, MALT lymphoma with a minor large B-cell lymphoma (<20%), large B-cell lymphoma with @DISEASE$, and large B-cell lymphoma without MALT lymphoma.	false
+ed5206b76184b0d804e43e0bfb7bf452c1e5dc84	The primary @PHENOTYPICFEATURE$ was classified into four groups: @DISEASE$, MALT lymphoma with a minor large B-cell lymphoma (<20%), large B-cell lymphoma with MALT lymphoma, and large B-cell lymphoma without MALT lymphoma.	false
+62d387558d5a7c14614f8e2bb4edb52497613850	@DISEASE$ of thyroid: a rare thyroid @PHENOTYPICFEATURE$.	false
+386af546a6774bea814a93cb4dc0431f06e3b9a0	Sixty-three IgE-secreting @DISEASE$ @PHENOTYPICFEATURE$.	false
+7958faba2008c5ad14462e291b203ad701f35317	A "soap bubble" @PHENOTYPICFEATURE$ in the brain: isolated cerebral @DISEASE$.	false
+50534464dc04c896ab489fe7260bb43289736f58	We report on a case of @DISEASE$ (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue @PHENOTYPICFEATURE$ of the fingers and toes.	false
+e55d08f4993d69902476c8f4231338efd0515971	Ring infiltrates and stromal @PHENOTYPICFEATURE$ are frequently associated with @DISEASE$, as well as in Acanthamoeba coinfections.	false
+c4aaae0605a59cd544c4d253efac5c27b649f0c4	The characteristic dense, white ring-like infiltrates, stroma @PHENOTYPICFEATURE$, keratic precipitates, and the chronic nature of the infections were similar to those observed in human @DISEASE$.	false
+8f2b7e17b1dddf5bcc47665a27d6cd08f234f7d2	parasites are the causative agents of @DISEASE$, fatal granulomatous amoebic encephalitis, and @PHENOTYPICFEATURE$.	false
+5288666879b67d1df4ae6e9179ab6e97840c558a	Observational studies in general support an association between maternal use of multivitamins containing folic acid and a reduction in the occurrence of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fe79844e9f5c09a59458bc0a2c8886880ae83ffd	No significant increased risk for major malformations, @PHENOTYPICFEATURE$, @DISEASE$, genitourinary malformations or hypospadias were identified in our primary analysis.	false
+87c218b2eeb4ce7d00ec5e5aef8a9b14946cc097	Our results support the relation between maternal @PHENOTYPICFEATURE$ and @DISEASE$, and confirm two previous meta-analyses that considered fewer studies.	false
+b8c135b59adb015b387d7331bcc0bf32c3e116f8	Folic acid supplementation and the occurrence of @PHENOTYPICFEATURE$, @DISEASE$, multiple births, and miscarriage.	false
+eec3cffdb6188a6c60e2ba350b29d2d88922f9b4	Paternal smoking is found to be associated with an increase in SGA, birth defects such as @PHENOTYPICFEATURE$, and @DISEASE$, cancers, brain tumours and acute lymphoblastic leukaemia.	false
+534d9e1774e1d2446ff9e4fff24df72a685c3c9f	Isolated and non-isolated birth defect cases of critical @PHENOTYPICFEATURE$, @DISEASE$, and spina bifida were identified from the Florida Birth Defects Registry.	false
+1f6ef08e95771cddbcda8721705ee919673cfd7c	The most prevalent conditions include @PHENOTYPICFEATURE$, @DISEASE$, Down syndrome, and neural tube defects.	false
+d451f290f5d8f0789c4413af8f47b750f5c0b6af	There is an association between maternal occupational exposure to solvents and congenital anomalies in the offspring, including neural tube defects, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+14603d98245fbcfad467a02fa0e21ccbca7a9d00	However, the results are inconsistent and most studies have only focused on the association of air pollution with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+38c517e49349842b6d72de35a4e35076bd1d7106	Since the 1960s, multiple studies have reported a tendency toward @PHENOTYPICFEATURE$ in individuals with nonsyndromic @DISEASE$ (OFCs).	false
+605dc6f7a9c151f5d12564a7133ffa1528508cc5	Tibia fracture in rats results in chronic vascular and nociceptive changes in the injured limb resembling @DISEASE$ (CRPS) and up-regulates expression of interleukin 1? (IL-1?), interleukin IL-6 (IL-6), @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?), and nerve growth factor-? (NGF-?) in the hindpaw skin.	false
+ee6da1d593368eb5c7bbda27b7c24f1cb42d4ef1	@DISEASE$ (CRPS) type I may occur as complication after any type of surgery for basal joint @PHENOTYPICFEATURE$ of the thumb.	false
+56553cfb67cd61508055f962505052c8a482c307	More patients in the control group developed patellofemoral complications compared to the celecoxib group (P = 0.001) including anterior knee pain (14/96; 15%) vs (4/95; 1%), @DISEASE$ (7/96; 7%) vs (1/95; 1%), @PHENOTYPICFEATURE$ (9/96; 9%) vs (2/95; 2%), and scar tissue requiring re-arthroscopy (8/96; 8%) vs (2/95; 2%) respectively.	false
+920bae5bbe7c69b6c5b480b36d827bb41c0ac10b	Other indications for thoracic and lumbar sympathectomy include @DISEASE$ (CRPS), chronic @PHENOTYPICFEATURE$ associated pain and hyperhidrosis.	false
+8bc71c0bd46931029d4147865e7eb038bd2dd77a	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (@DISEASE$).	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+b1b33d667f60f90ae76665fa635c232b22968a97	Stratified models showed that the determinants of the trajectories were largely similar for those with CMD compared to those without @DISEASE$ except that @PHENOTYPICFEATURE$ was a somewhat stronger predictor of the high/increasing trajectory among employees with CMD.	false
+71677df7518b2d595b7b0ce2c969738f0871343e	Stratified models showed that the determinants of the trajectories were largely similar for those with CMD compared to those without CMD except that @PHENOTYPICFEATURE$ was a somewhat stronger predictor of the high/increasing trajectory among employees with @DISEASE$.	false
+10695b1632cf0e6190e7d6ae8c4f9bc7140905af	Stratified models showed that the determinants of the trajectories were largely similar for those with @DISEASE$ compared to those without CMD except that @PHENOTYPICFEATURE$ was a somewhat stronger predictor of the high/increasing trajectory among employees with CMD.	false
+f85f47347f568fa1cd1a30fe158523aa12b354a5	Relatively low severity of tinnitus, normal hearing, fluctuating @PHENOTYPICFEATURE$, and some signs and symptoms of @DISEASE$ are believed to constitute predictors of successful treatment outcome.	false
+c899e0b482aa5770908f2abb2c03c84fa0eefb57	Relatively low severity of @PHENOTYPICFEATURE$, normal hearing, fluctuating tinnitus, and some signs and symptoms of @DISEASE$ are believed to constitute predictors of successful treatment outcome.	false
+dd0b5a009a78d5a703e3e8d1ec49079817c94cd1	The study sought to investigate the relationship among @PHENOTYPICFEATURE$, @DISEASE$, and adverse outcomes.	false
+5673f2b7e840a56634dff7b5e72b94953e41edd3	No significant correlation was established between the groups receiving treatment and the control group that would validate a link between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3a41dac2dd0b3933bb48a8678fedbb77ab10fb4f	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or tinnitus, investigates the correlation between specific diagnoses of @DISEASE$ with otalgia or @PHENOTYPICFEATURE$, and estimates the effects of treatment of CMD on these ear symptoms.	false
+6258cb02dd716a9b33697d83cd388e642645c88d	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or @PHENOTYPICFEATURE$, investigates the correlation between specific diagnoses of @DISEASE$ with otalgia or tinnitus, and estimates the effects of treatment of CMD on these ear symptoms.	false
+4a30255c95128e9cb78105fbfae5b60a76133808	The present study evaluates the connection between craniomandibular disorders (@DISEASE$) and otalgia or @PHENOTYPICFEATURE$, investigates the correlation between specific diagnoses of CMD with otalgia or tinnitus, and estimates the effects of treatment of CMD on these ear symptoms.	false
+5c2eeb0ea3cf4b300430decc08bfe7e7b1dbe2a7	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or tinnitus, investigates the correlation between specific diagnoses of CMD with otalgia or @PHENOTYPICFEATURE$, and estimates the effects of treatment of @DISEASE$ on these ear symptoms.	false
+7c54e68083953172e6374d71cee0c58f932522ff	The present study evaluates the connection between craniomandibular disorders (@DISEASE$) and otalgia or tinnitus, investigates the correlation between specific diagnoses of CMD with otalgia or @PHENOTYPICFEATURE$, and estimates the effects of treatment of CMD on these ear symptoms.	false
+4cd748132a3df24655be7b92b767847bc8af1aed	The present study evaluates the connection between craniomandibular disorders (CMD) and otalgia or @PHENOTYPICFEATURE$, investigates the correlation between specific diagnoses of CMD with otalgia or tinnitus, and estimates the effects of treatment of @DISEASE$ on these ear symptoms.	false
+bd12232481c4d4bc5b5f5220149f9af5df3ae1c9	Several findings indicating a relatively strong relationship between @DISEASE$, @PHENOTYPICFEATURE$ and subjective hearing loss were noted.	false
+8392b1114a207246a680164bceff24841389885b	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) @DISEASE$ patients with @PHENOTYPICFEATURE$ (n = 8 = 3.8%) (one patient with tinnitus and otalgia).	false
+411e17a0c529816266110fa77133ea7460ea89e4	According to their complaints, the patients could be divided into three groups: (1) @DISEASE$ patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) CMD patients with @PHENOTYPICFEATURE$ (n = 8 = 3.8%) (one patient with tinnitus and otalgia).	false
+4ac6e4ee9e2d07169c03f3ab19ec4b01de71884f	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) @DISEASE$ patients with otalgia (n = 80 = 37%), and (3) CMD patients with tinnitus (n = 8 = 3.8%) (one patient with @PHENOTYPICFEATURE$ and otalgia).	false
+659f6481c14e1184dbebe000f87478800fe2f42e	According to their complaints, the patients could be divided into three groups: (1) @DISEASE$ patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) CMD patients with tinnitus (n = 8 = 3.8%) (one patient with @PHENOTYPICFEATURE$ and otalgia).	false
+77a0300e7261ff47ed7d62a8537584943417c85f	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) @DISEASE$ patients with otalgia (n = 80 = 37%), and (3) CMD patients with @PHENOTYPICFEATURE$ (n = 8 = 3.8%) (one patient with tinnitus and otalgia).	false
+9a9e3a22c554c8e69e6ec635c3835be22ca87c5f	According to their complaints, the patients could be divided into three groups: (1) CMD patients without ear symptoms (n = 134 = 61%), (2) CMD patients with otalgia (n = 80 = 37%), and (3) @DISEASE$ patients with tinnitus (n = 8 = 3.8%) (one patient with @PHENOTYPICFEATURE$ and otalgia).	false
+16f930e95ac8c346bb7a06f2c83ba823bc5b5918	While non-endothelial dependent CMD may be related to diastolic dysfunction, further investigation is needed regarding links between @DISEASE$, diastolic dysfunction and the development of @PHENOTYPICFEATURE$ with preserved LVEF.	false
+55415bb217ae58fb1468895c8342ad1c7ab6c691	While non-endothelial dependent @DISEASE$ may be related to diastolic dysfunction, further investigation is needed regarding links between CMD, diastolic dysfunction and the development of @PHENOTYPICFEATURE$ with preserved LVEF.	false
+d1bdbe45d94fe89a7a703d24a7a3435a6540c922	A theoretic model of causal connections between @PHENOTYPICFEATURE$ and signs and symptoms of @DISEASE$ in some tinnitus patients is suggested.	false
+7e931e6aff90cfcb2f5bba4f4352b1ab7b063a4d	They examine emerging data highlighting the significance of @DISEASE$ in specific populations, including @PHENOTYPICFEATURE$ and insulin resistance, myocardial injury and heart failure with preserved ejection fraction, and nonobstructive and obstructive coronary artery disease.	false
+114562a38c5200c8e055e56a682aad11aa2096ca	They examine emerging data highlighting the significance of @DISEASE$ in specific populations, including obesity and insulin resistance, myocardial injury and @PHENOTYPICFEATURE$ with preserved ejection fraction, and nonobstructive and obstructive coronary artery disease.	false
+41ce5fe8c0e2fe969ce2a5b3d4b0a6123c42ede1	In a patient with @PHENOTYPICFEATURE$ traits, growth deficiency, mental retardation but without cardiovascular anomalies, detection of hemizygosity at the elastin locus by FISH analysis confirmed diagnosis of @DISEASE$ (WS).	false
+985dae55fb73d6f5705f8859f47486f251396a26	Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and @PHENOTYPICFEATURE$ suggestive of @DISEASE$.	false
+7cca62977ca3f6620500843f1893e6efe7dd5a78	Targeted mutation of Cyln2 in the @DISEASE$ critical region links CLIP-115 haploinsufficiency to @PHENOTYPICFEATURE$ in mice.	false
+c6849c3d9bc1e27464306383766d71d94a9da3ee	@DISEASE$ (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and @PHENOTYPICFEATURE$.	false
+893da130b1124607f9f0e6e352a7f9062f964f38	Because of hypotonia, myopia, soft pale skin, joint hypermobility, and mild @PHENOTYPICFEATURE$, either Noonan syndrome- or @DISEASE$-spectrum disorders were suspected clinically.	false
+e18e35a3d63f0a1a4190a884dae7c8a773c7ea72	@DISEASE$ is a rare contiguous gene syndrome, characterized by intellectual disability, @PHENOTYPICFEATURE$, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia.	false
+ae33478ead469763286b2a5118a3e50dc6c884c9	@DISEASE$ is a rare congenital developmental disorder characterized by a constellation of distinctive @PHENOTYPICFEATURE$, mental retardation, cardiovascular anomalies, infantile hypercalcemia, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits.	false
+c415c555bcd2d517ea5482ba01d1f53e167cbcf9	The phenotype of @DISEASE$ is extremelly variable but the most common findings include cardiovascular disease, @PHENOTYPICFEATURE$, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities.	false
+ef4be044d315cde1826ceff758e18d149f9751a8	Williams-Beuren syndrome (WBS) or @DISEASE$ (OMIM 194050) is a multisystem disorder manifested by @PHENOTYPICFEATURE$ and is caused by a hemizygous deletion of ? 1.5-1.8	false
+afbccb737f4437845c488fead7b45d679fdb157c	@DISEASE$ (WBS) or Williams syndrome (OMIM 194050) is a multisystem disorder manifested by @PHENOTYPICFEATURE$ and is caused by a hemizygous deletion of ? 1.5-1.8	false
+70366783fc4a1784019316df7e44342432180a64	@DISEASE$ is a genetic syndrome involving an @PHENOTYPICFEATURE$, short stature, developmental delay and heart defects.	false
+0279b2df86d484fd5420d3907569842d5d73075f	@DISEASE$ (EL) describes an encephalitis with psychiatric, sleep, and extrapyramidal @PHENOTYPICFEATURE$.	false
+c67e2f390576def705918123faef51f6b3c055f5	Both cases satisfied the published diagnostic criteria for @DISEASE$, with neuropsychiatric features including complex @PHENOTYPICFEATURE$, hypoventilation and altered conscious state.	false
+0e0189bdcc9e25d9c59cdf7b251cd43ffb82c998	Epidemics of @DISEASE$ (EL), from 1917 to the 1930s, are an important milestone in the history of @PHENOTYPICFEATURE$.	false
+a1d089fdb64932b0363ce77728721d4ba48c6d75	Risk of CVST has been documented in patients with numerous conditions including @PHENOTYPICFEATURE$, however, Japanese encephalitis (JE, @DISEASE$ type B) with CVST has not been reported previously.	false
+33b220f7f7b195944656be70a884abcb75d9149d	@DISEASE$ (EL; epidemic encephalitis; von Economo's disease) often presented with a @PHENOTYPICFEATURE$, and the motor consequences of postencephalitic parkinsonism (PEP) were characteristic of the chronic sequelae of this condition.	false
+1664c8c83caa0b7bab67b94c97e8c08da77af15e	Encephalitis lethargica (EL; epidemic encephalitis; @DISEASE$) often presented with a @PHENOTYPICFEATURE$, and the motor consequences of postencephalitic parkinsonism (PEP) were characteristic of the chronic sequelae of this condition.	false
+189b19cd5fc81abb94806c04e9a7cfc56a97410e	@DISEASE$ is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and @PHENOTYPICFEATURE$.	false
+23f0e80386b75fda2442103a0d399382059f9a8d	@PHENOTYPICFEATURE$ as a result of intra-uterine growth retardation is one of the characteristics of @DISEASE$.	false
+bc11234c4e4da5ffc7ea0c96648ff8fea51a6656	ANT1 has also been associated with a third condition, autosomal dominant facioscapulohumeral muscular dystrophy (@DISEASE$), an adult onset disorder characterized by variable @PHENOTYPICFEATURE$ in the face, feet, shoulders, and hips.	false
+655357cc701779c707eed8a1a2445f8201dea2d1	ANT1 has also been associated with a third condition, autosomal dominant @DISEASE$ (FSHD), an adult onset disorder characterized by variable @PHENOTYPICFEATURE$ in the face, feet, shoulders, and hips.	false
+60fc13672c1cea6d7c27102bd1add1c1e3410132	@DISEASE$ (FSHD) is a muscular disease usually spreading from upper to lower body and characterised by asymmetric @PHENOTYPICFEATURE$.	false
+6844f27255de6fc9cc24e02762373893aa4be7bb	Facioscapulohumeral dystrophy (@DISEASE$) is a muscular disease usually spreading from upper to lower body and characterised by asymmetric @PHENOTYPICFEATURE$.	false
+ebdd08236c7654dc7bad3e4b3f6ab0c7422246a8	@DISEASE$ causes @PHENOTYPICFEATURE$ of the face, shoulder girdle, and upper arm with selective sparing of the deltoid muscle.	false
+7c502e4079c47333bc5377c18bf73f6961fe9c12	A "Triple Trouble" Case of @DISEASE$ Accompanied by Peripheral Neuropathy and @PHENOTYPICFEATURE$ Epilepsy.	false
+9c6cd077c30bf85e59e3c501c56c08a8ff74dbba	Here, we have searched for a link between facioscapulohumeral dystrophy (FSHD) and cancer by comparing published transcriptome signatures of FSHD and various malignant @PHENOTYPICFEATURE$ and have found a significant enrichment of cancer-related genes among the genes differentially expressed in @DISEASE$.	false
+b61bfce4da6405212ca7bcb2ef1d8a1c17dc4c7d	Here, we have searched for a link between facioscapulohumeral dystrophy (@DISEASE$) and cancer by comparing published transcriptome signatures of FSHD and various malignant @PHENOTYPICFEATURE$ and have found a significant enrichment of cancer-related genes among the genes differentially expressed in FSHD.	false
+9145e09f62880fa94dda409ecad23da232a8266f	Here, we have searched for a link between @DISEASE$ (FSHD) and cancer by comparing published transcriptome signatures of FSHD and various malignant @PHENOTYPICFEATURE$ and have found a significant enrichment of cancer-related genes among the genes differentially expressed in FSHD.	false
+68967cd68db67ab05ef387e66f363e9e1af10824	Here, we have searched for a link between facioscapulohumeral dystrophy (FSHD) and cancer by comparing published transcriptome signatures of @DISEASE$ and various malignant @PHENOTYPICFEATURE$ and have found a significant enrichment of cancer-related genes among the genes differentially expressed in FSHD.	false
+cf6630c6e6ec88fb0aecd31b9bb6dbf48899c26e	Facial muscle involvement, scapular winging, asymmetrical involvement, funnel chest, and the absence of @PHENOTYPICFEATURE$ were typical of @DISEASE$.	false
+187bf014e9135f80fb8e0485c6e4875c51121a69	Autosomal dominant @DISEASE$ (FSHD), the third most common muscular dystrophy, is characterised by asymmetric and highly variable @PHENOTYPICFEATURE$.	false
+8f7eed838430fb4ebc46f0d00219fb05ec536026	Autosomal dominant facioscapulohumeral dystrophy (@DISEASE$), the third most common muscular dystrophy, is characterised by asymmetric and highly variable @PHENOTYPICFEATURE$.	false
+eebaeae5cfa634ada355cb1536f70adebdad6508	We report a 26-year-old woman who had respiratory dysfunction and @PHENOTYPICFEATURE$ at birth and was diagnosed with @DISEASE$ at the age of 5.	false
+ab3e69a98ea6f3a0349c59830befcb3d2a4eb75c	@DISEASE$ affects about one in 20-400,000 people, and no effective therapeutic strategies are known to halt disease progression or reverse @PHENOTYPICFEATURE$ or atrophy.	false
+5cbece28eaebef18e72075e347d4c324e2df8360	The present study described a "tripe trouble" with @DISEASE$, peripheral neuropathy, and @PHENOTYPICFEATURE$ epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype.	false
+ccc55606da36c3ba3571f93c365d81d90cb9aa35	Other comorbidities were @DISEASE$, pterygium, @PHENOTYPICFEATURE$, macula diseases, vitreous haemorrhage, retinal detachment and pseudoexfoliation (0.70%-1.60%).	false
+ae49512f1391bc2676ac78355d690061c724090a	The prevalence of cataract, diabetic retinopathy, @DISEASE$, @PHENOTYPICFEATURE$, blepharoptosis, and pterygium was similar to or even higher in group 2 compared to group 1.	false
+b48f5b83225e5716013e8fa1e29822cc41ea2f1c	Maculopathy, PCO, @PHENOTYPICFEATURE$, degenerative myopia and @DISEASE$ may contribute to unfavorable outcomes in cataract surgery.	false
+270d682b1e56ca962b55a6197b2009a765d69843	Binocular blindness was mainly due to cataract, glaucoma, diabetic retinopathy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e07bb084ec06020a01ff150c27907b31c9809ffa	Exclusion criteria were represented by any other ocular diseases other than @DISEASE$, tear film abnormalities, systemic @PHENOTYPICFEATURE$, diabetes mellitus, and a body temperature higher than 37.5?C.	false
+c3432b2e1dadaa4596425f2724ce5f5e5b9d8191	Cataract was the leading cause of visual impairment and blindness, which was followed by @DISEASE$, @PHENOTYPICFEATURE$, glaucoma, and macular scar.	false
+cdc60d0bcad36218e7b720c40b5cc301e2c8b2aa	Evidence for an association between age-related macular degeneration (@DISEASE$) and @PHENOTYPICFEATURE$ is inconsistent.	false
+4b507d5bad61c230ff4f595706868939377d9f6b	Evidence for an association between @DISEASE$ (AMD) and @PHENOTYPICFEATURE$ is inconsistent.	false
+a7a35894e08d5b7631717fe947d52d8d57892c20	To evaluate the association between @DISEASE$ (ARMD) and sensory neural @PHENOTYPICFEATURE$ (SHI).	false
+1279d8266f640de4fc39230e59b34d82e0ebd157	To evaluate the association between age-related macular degeneration (@DISEASE$) and sensory neural @PHENOTYPICFEATURE$ (SHI).	false
+533b29a048453ee51298ae75a002be9ce5a0d1df	In early AMD, age and triglyceride, and in late @DISEASE$, age and systolic BP elevations increased the risk of concurrent AMD and @PHENOTYPICFEATURE$.	false
+f20770de0c5c840ebd3d4218ceef4070d3258d5b	In early @DISEASE$, age and triglyceride, and in late AMD, age and systolic BP elevations increased the risk of concurrent AMD and @PHENOTYPICFEATURE$.	false
+18733685e25b091b798fd01924749c8cc211264d	In early AMD, age and triglyceride, and in late AMD, age and systolic BP elevations increased the risk of concurrent @DISEASE$ and @PHENOTYPICFEATURE$.	false
+83227e8934d486ee8187cacdcbd9d437bf50772f	Elsewhere, ginkgo is used for cognitive impairment  and dementia, acute ischaemic stroke, intermittent claudication,  @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6c6f95e30c45ee3f0f8f3f4fa0bd8253039f743c	A new case of @DISEASE$ was recognized as an accidental finding during the autopsy of a 58-year-old male who had died because of acute enteritis and shock-induced @PHENOTYPICFEATURE$.	false
+c856c5b24f70f5966e1c90536cb654e4ef596cab	In this paper, we report a case of @DISEASE$ presenting with @PHENOTYPICFEATURE$, and postulate a probable mechanism for this unusual presentation.	false
+aeb50c15591e63a34c31391e3e8e6239e42324f0	Only two cross-sectional studies investigated the relationship between @PHENOTYPICFEATURE$-related measures and @DISEASE$ accounting for familial factors, and the results were conflicting.	false
+ad43f2a15e868a95123ccd0f0ca65f92d9e33db0	Lhermitte-Duclos disease (@DISEASE$), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous @PHENOTYPICFEATURE$ disorder.	false
+93cbb7755968e416d79d066b876b3e9c7c85df18	@DISEASE$ (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous @PHENOTYPICFEATURE$ disorder.	false
+d254f61faf3c1851abbcac1fbd1e6dd5c460730a	Lhermitte-Duclos disease (LDD), or @DISEASE$, is an unusual hamartomatous @PHENOTYPICFEATURE$ disorder.	false
+97c0f2a357bc16110c08be87e80560c588142593	The relationships between @PHENOTYPICFEATURE$ and low back pain (LBP) and lumbar disc degeneration (@DISEASE$) remain unclear.	false
+16a79dff48af13ea6d3570180b4141eccf15e0fd	Click and galvanic stimulations of vestibular-evoked myogenic potential (c-VEMP and g-VEMP) were applied to measure the interaural difference (@DISEASE$) of saccular responses in patients with acute low-tone @PHENOTYPICFEATURE$ (ALHL).	false
+843a45b8b4971bd47537aeea222e85e083ed125d	Phacoemulsification in total white @PHENOTYPICFEATURE$ with @DISEASE$.	false
+bca39d190415e9179997cdec683b113d1016a0af	New surgical approach in cases of @PHENOTYPICFEATURE$ with ocular @DISEASE$.	false
+e52cff356bd779214c7b708e4e32cfbf71455f7c	To assess the outcome of @PHENOTYPICFEATURE$ surgery in patients with chronic sequelae of @DISEASE$ (SJS).	false
+a10226802987e2db3a1c157d63f55b738cfee79d	@DISEASE$ following @PHENOTYPICFEATURE$ surgery.	false
+a2124ab792f085f09d1d425f07f5b9d718b3012e	The usefulness of this new methodology has been described in patients with tear instability, undergoing laser-assisted in-situ keratomileusis surgery, with @DISEASE$, Sj?gren syndrome and mild @PHENOTYPICFEATURE$ opacities.	false
+c66a43904cedd341854bff76290b4f6b3db8660d	Lenalidomide cutaneous adverse event: a case of @DISEASE$ (SJS) in a primary plasma cell @PHENOTYPICFEATURE$ patient treated with lenalidomide and dexamethasone.	false
+e46492ff5dd1d8852d3514ccf68c9ad70cc93200	Cataract surgery can be safely performed in patients with @DISEASE$ (SJS) with visually significant @PHENOTYPICFEATURE$.	false
+cf0af99485186dd7e829cf2ba419c480dc428de3	Indications for fitting included limbal stem cell deficiency, post-photorefractive keratectomy (PRK) decentred ablation, pellucid marginal degeneration, @DISEASE$, keratoconus, dry eye, neurotrophic keratitis, exposure @PHENOTYPICFEATURE$ from facial nerve paralysis, and post-radial keratotomy (RK) symptoms.	false
+79b9ba38663070667423b0d139481c7bef97ffa4	Bilateral microbial @PHENOTYPICFEATURE$ in highly active antiretroviral therapy-induced @DISEASE$ and toxic epidermal necrolysis: a case series.	false
+4d36626e408ecd00fd0f5120f4ca20a618e84ef3	To report three cases of bilateral microbial @PHENOTYPICFEATURE$ in eyes with @DISEASE$ (SJS) and toxic epidermal necrolysis (TEN) induced by highly active antiretroviral therapy (HAART) in patients of acquired immune deficiency syndrome (AIDS).	false
+8aec92c9bf9c83c2d11eb9717bef95ceae5769f4	[The @DISEASE$: diabetes mellitus, hypacusis, optic atrophy and @PHENOTYPICFEATURE$ in STH deficiency].	false
+3edfed78e61507a3c38a66baedd7cbcf9cffa6da	@PHENOTYPICFEATURE$ is a common feature in @DISEASE$.	false
+1f1a207f054519849238ca5da95bd6ac1a2e84a1	When a patient presents with @PHENOTYPICFEATURE$ and petechiae, @DISEASE$ must be considered, even when the patient has a non-toxic appearance.	false
+7f580f4e350477bd3d996033d37af832b3df1bd1	We report here the case of a 45-year-old woman referred to our centre because of diarrhoea and @PHENOTYPICFEATURE$, who had already received a diagnosis of @DISEASE$, Sj?gren's syndrome and renal tubular acidosis.	false
+66d27f592d87c3d0f3edecf77720b9c32f56b780	A wide range of seemingly unrelated disorders, such as schizophrenia, bipolar disease, dementia, Alzheimer's disease, epilepsy, migraine headaches, strokes, neuropathic @PHENOTYPICFEATURE$, Parkinson's disease, ataxia, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and @DISEASE$, have underlying pathophysiological mechanisms in common, namely reactive oxygen species (ROS) production, the accumulation of mitochondrial DNA (mtDNA) damage, resulting in mitochondrial dysfunction.	false
+0087069e171e176a190c6be2ae1102d209443791	Damage to mitochondria is now understood to play a role in the pathogenesis of a wide range of seemingly unrelated disorders such as schizophrenia, bipolar disease, dementia, Alzheimer's disease, epilepsy, migraine headaches, strokes, neuropathic @PHENOTYPICFEATURE$, Parkinson's disease, ataxia, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and @DISEASE$.	false
+e38f6903978566198107677ec9b8b8e87ba6b6b7	@DISEASE$ presenting with gastritis, hyperlipidemia and marked @PHENOTYPICFEATURE$.	false
+ca6a928d294df7838e6e33ba85deff52986e46cd	Pioderma gangrenosum (PG) is an uncommon ulcerative cutaneous dermatosis associated with a variety of systemic diseases, including inflammatory bowel disease (IBD), arthritis, @PHENOTYPICFEATURE$, hepatitis, and @DISEASE$.	false
+418cbdd28bfcceebe73ff59c158ac96dae7cfb50	The GABA(A) receptor ?2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome @DISEASE$, which includes a spectrum of @PHENOTYPICFEATURE$ types from febrile seizures to Dravet syndrome.	false
+70381d9b372755f0994ff364088254847edca1bb	@DISEASE$ (GEFS+) is a benign Mendelian syndrome characterized by childhood-onset febrile and afebrile @PHENOTYPICFEATURE$.	false
+6dbbd0ca67d28b0cd711c0133179e550a59b17ce	Phasic GABA-pathies comprise mostly @DISEASE$ and Dravet syndrome, thus long-lasting @PHENOTYPICFEATURE$ with mild interictal spiking.	false
+2df6d13b7143d8e1dace0aba6720f0a85b91ff3c	The syndrome of @DISEASE$ (GEFS+) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile @PHENOTYPICFEATURE$.	false
+c66383b1cf6c100d3476d9b23721174d8014af08	A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile @PHENOTYPICFEATURE$ including @DISEASE$ (GEFS+) was also noted.	false
+5276ddf79e1916d2624e1f9455cc74510c5f1447	The family history of @PHENOTYPICFEATURE$ in SMEI is in keeping with the spectrum of seizure phenotypes seen in @DISEASE$ (GEFS+).	false
+ba415dcfb7e7144ccb595d8dfba6d9b95556890e	The family history of seizures in SMEI is in keeping with the spectrum of @PHENOTYPICFEATURE$ phenotypes seen in @DISEASE$ (GEFS+).	false
+338a96d02c4b6988bc2627dfb07d755918701ba5	The most notable, @DISEASE$ (GEFS+), is characterized by heterogeneous phenotypes including FS persisting beyond the usual age of remission or coexisting with afebrile @PHENOTYPICFEATURE$.	false
+83ba6ff1588cf2c2266189e343a89acc20cb72d2	Several case reports have described oral changes in DC, which include oral leukoplakia, increased dental caries, @PHENOTYPICFEATURE$, thin enamel structure, @DISEASE$, intraoral brown pigmentation, tooth loss, taurodontism and blunted roots.	false
+2b4630543c127f87b93b26dfa6fca1bfcbb7f730	Because both @DISEASE$ and HO induction reduce cyst number and cyst areas, these two factors define an injury-stimulated cystogenic pathway that may provide therapeutic targets to slow the formation of new @PHENOTYPICFEATURE$ and the growth of existing cysts.	false
+cb73d952cde4de50282ce39a9cc3764970471b5d	@PHENOTYPICFEATURE$ in a patient with @DISEASE$ (SIOD).	false
+670f22aacef92404584056335050d62fa44d535b	This article explores treatment options at the disposal of primary care physicians and hand surgeons for early thumb @DISEASE$ @PHENOTYPICFEATURE$.	false
+545c61c44a66f494106d42f149f262c0811c697e	No significant association between a thenar insertion and thumb @DISEASE$ @PHENOTYPICFEATURE$ was observed.	false
+0998e99b7c0ca7d439ec93638ddf3bff2dd1e500	(2) Can a survey on expectations developed from patient-derived data quantitate expectations in patients with thumb @DISEASE$ @PHENOTYPICFEATURE$?	false
+a87899665b0b14fea6d119f178e44c045904e6d8	Using microcytotoxic assays of 51Cr release from labeled EL-4 @PHENOTYPICFEATURE$ cells, C'DC, ADCC, and @DISEASE$ were measured at 14 intervals during the 77-day course of the experiment.	false
+e4993b084f112d97a31d700666e572e9a490fae2	Central muco epidermoid carcinomas (@DISEASE$) are rare @PHENOTYPICFEATURE$, representing about 2 to 3% of all mucoepidermoid carcinomas.	false
+65ae7c245d7fab61918ac5c3044e2e4a2bcd7859	Decreasing pinch strength, especially key pinch, is associated with early @DISEASE$ @PHENOTYPICFEATURE$ before the development of extensive radiographic disease.	false
+e2ef56996444f399a84bf06484f010ad129e1907	Lymphoid cells from normal untreated A.SW mice showed a cell-mediated cytotoxicity (@DISEASE$) towards Rous sarcoma virus-induced @PHENOTYPICFEATURE$ lines in a 48-hr microcytotoxicity assay in vitro, using 3[H]-thymidine prelabeled tumor cells.	false
+9480ab719bf2310bb2e245a8bf21c48102abf3f5	Lymphoid cells from normal untreated A.SW mice showed a cell-mediated cytotoxicity (@DISEASE$) towards Rous sarcoma virus-induced tumor lines in a 48-hr microcytotoxicity assay in vitro, using 3[H]-thymidine prelabeled @PHENOTYPICFEATURE$ cells.	false
+ceea13c9dfb4a10cc7d47176b98cff9ca2fc9fcf	Concerns exist regarding the safety of sodium hyaluronate-carboxymethylcellulose (HA-CMC, Seprafilm) adhesion barrier in regard to cancer survival as a result of in vitro data demonstrating that hyaluronan, a component of HA-@DISEASE$, may promote @PHENOTYPICFEATURE$ growth.	false
+7f16668bc1443e09bdbbd33ea92f3a710f639a16	To determine the innervation pattern to the thumb carpometacarpal (CMC) joint and assess the safety and efficacy of selective joint denervation for the treatment of pain and impairment associated with thumb @DISEASE$ @PHENOTYPICFEATURE$.	false
+61b9e8ef4ad39bbe3d33454723f1e1424e535b86	Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, and @PHENOTYPICFEATURE$, suggestive of @DISEASE$ (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias.	false
+abf63204fe1e1046a1ff96db3ff5a5799cd3e1d7	Joint contractures, generalised myotonia, skeletal anomalies, and @PHENOTYPICFEATURE$ are common features; @DISEASE$ is a potentially lethal complication during anaesthesia.	false
+3f7d213f5fa55692c8c4d09ed7f998ae6e8367e5	In 1973, King described a subgroup of @DISEASE$ patients with slowly progressive myopathy, @PHENOTYPICFEATURE$, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance.	false
+719feb799dd531b2e83642e87ad68c73d1799696	Identical de novo @PHENOTYPICFEATURE$ in the type 1 ryanodine receptor gene associated with fatal, stress-induced @DISEASE$ in two unrelated families.	false
+9cafd51e3f4deecff32bd637021e7717d54c2ef8	Features of NAM include congenital weakness, cleft palate, ptosis, @PHENOTYPICFEATURE$, and susceptibility to @DISEASE$ provoked by anesthesia.	false
+1b86ad5abacbd808443a7e22a34c72246358595a	@DISEASE$ and @PHENOTYPICFEATURE$ occurred in the patient who expired.	false
+cb55b6efe4bb768e1d4bf7315da9919c33edeea8	@DISEASE$ caused by intravenous lidocaine for @PHENOTYPICFEATURE$.	false
+9115730ca0f45349a8c2387717ebc238f289c643	We encountered a case of @DISEASE$ caused by intravenous lidocaine which had been administered as treatment for a @PHENOTYPICFEATURE$.	false
+9efcd3bdf0d62086c5abfd32dc04c186d22e01f6	In @DISEASE$, dantrolene, a drug assumed to possess calcium channel blocking properties, effectively suppresses supraventricular and @PHENOTYPICFEATURE$.	false
+7e3dc96870b73b1ef7c9368674dbfa38d78135f9	The RyR is currently used as a therapeutic target in @DISEASE$ where dantrolene is effective and to relieve @PHENOTYPICFEATURE$, with the use of JTV519 and flecainide.	false
+39b8a3b9e7044191ee3795aeabe5cf3bf20b44c6	NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH) provoked by anesthesia.	false
+6b49c5d06db6dc881983b7bcc0d4f04f64905649	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+ffd610fde32fd2a80528f6c3aee2603647f3eeb6	We report on a baby presenting with @PHENOTYPICFEATURE$, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (@DISEASE$).	false
+54929d8422c0d5254bf854927d54e8dc1b9e5086	A female neonate presented with @PHENOTYPICFEATURE$, cleft palate and congenital heart disease was diagnosed as @DISEASE$.	false
+1eaa33518e901dd39df13b710e0a803630798b21	We report on a previously apparently undescribed @DISEASE$-like self-limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, fever, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with @PHENOTYPICFEATURE$ or blindess in three of the five affected sibs.	false
+0f2a5195ef9536416993ae97028d559070d78792	A new 48, XXYY/@DISEASE$ associated with multiple @PHENOTYPICFEATURE$, congenital heart disease and mental retardation.	false
+39fd168d0eb18a9f57729e3245bc20ab0b8bad01	Severe encephalopathy with @PHENOTYPICFEATURE$ and hypomyelination due to @DISEASE$--MRI, clinical, biochemical and neuropathological findings of Polish patients.	false
+d4ee57fc939493f2c23c120c109107902f838228	We describe an autopsy case of @DISEASE$ in a patient who showed serum @PHENOTYPICFEATURE$ and overexpression of PTHrP and PTH/PTHrP receptor in the metastatic tumor cells.	false
+a0176d85d1a95677f6218b84318a700e45e2d9d1	The mortality from gastric cancer remains high especially in Western countries where, arguably, the index of suspicion of @DISEASE$ in patients presenting with upper @PHENOTYPICFEATURE$ is lower than in high prevalence countries.	false
+c4d4b384d254bcfa9e106f3f783f24aada8bd51b	The mortality from @DISEASE$ remains high especially in Western countries where, arguably, the index of suspicion of gastric cancer in patients presenting with upper @PHENOTYPICFEATURE$ is lower than in high prevalence countries.	false
+3afc059163006bdc3fff96d2fccf9abaca973bec	Galectin-1 mediates TGF-?-induced transformation from normal fibroblasts into @PHENOTYPICFEATURE$-associated fibroblasts and promotes tumor progression in @DISEASE$.	false
+7d17b59475004f313cddb8403296c6c94a0eeb24	@PHENOTYPICFEATURE$/dermatomyositis overlap syndrome with anti-centromere and U1 RNP antibodies during chemotherapy for @DISEASE$.	false
+e46d1b8d9a510ce3c1d99018df5b76881b00d112	[Incidence of spontaneous @PHENOTYPICFEATURE$ in breast and @DISEASE$].	false
+1d5558bf117e156ff1642cb7aa267264b3cfa0de	In this large cohort study, preoperative MetS, especially @PHENOTYPICFEATURE$, was predictive of significant @DISEASE$ mortality in patients with radical gastrectomy, especially for early stage of gastric cancer.	false
+8cffc2c1d8ce08ecf001663281ef15d57823f6e0	In this large cohort study, preoperative MetS, especially @PHENOTYPICFEATURE$, was predictive of significant gastric cancer mortality in patients with radical gastrectomy, especially for early stage of @DISEASE$.	false
+2a8437c12a1c9beeb11a6778fcfaf1d71dc19a95	Increasing evidence also suggests that salt intake is related to obesity through soft drink consumption, associated with renal stones and @PHENOTYPICFEATURE$ and is probably a major cause of @DISEASE$.	false
+d7dd080358022c1ebf50de1c6eb9abfd1cf9968f	The risk factors for oxaliplatin-induced @PHENOTYPICFEATURE$ and thrombocytopenia in advanced @DISEASE$.	false
+ee2b66cc915d4ea971642165a0db747acee9574c	Differential diagnoses included @DISEASE$, lymphoma, metastatic melanoma, systemic @PHENOTYPICFEATURE$, or heterotopic mesenteric ossification.	false
+28cd01bf0d0169c18c56780904956e68e1767d63	Interestingly, our patient also presented with aortic valvular "dysplasia" and @PHENOTYPICFEATURE$ similar to those seen in @DISEASE$, both of which may also be part of this syndrome.	false
+a72c94a4953a8f27f3649874c85047f39509f5fd	Motor unsteadiness, @PHENOTYPICFEATURE$, weight loss and micturition disorders in a 46-year-old female (Shy-Drager syndrome or @DISEASE$?)].	false
+adb5ad7450c3ad51e31238bebdc8c6308314ff9f	Retrobulbar neuritis and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6f760f8e56d8069ababf2bed3397ee71e4d5676a	The discovery of a patient with coexistent lymphoid interestitial pneumonia, @DISEASE$, and common variable @PHENOTYPICFEATURE$ focused attention on the possible autoimmune nature of this pulmonary disease.	false
+b41ad9b532130aeb37e42d309a095bd4473eb16e	[@PHENOTYPICFEATURE$ with @DISEASE$].	false
+73fcd569bcef3525c1b2f500beea76210c1eb537	We suggest that for a patient with multiple system disorders including dyskinetic @PHENOTYPICFEATURE$, psychiatric symptoms, polyneuropathy, and elevated CPK, a genetic test for XK gene mutation is highly indicated to confirm the @DISEASE$ and to guide the possible therapy.	false
+2e0e1333662b9bef74b3751724cfbaf538962d7b	The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and @DISEASE$, but there are other @PHENOTYPICFEATURE$ in which erythrocyte acanthocytosis may also be seen, such as Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration.	false
+994b90999972c3be61473da116fac90685bcfa27	Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a @PHENOTYPICFEATURE$: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, @DISEASE$).	false
+62f1461b90fe27ccb3414a16e042445ce8a16db5	This possibly life-threatening condition should be added to the clinical spectrum of @DISEASE$, and serum creatine kinase levels should be carefully monitored in patients with this syndrome, particularly if a hyperkinetic @PHENOTYPICFEATURE$ is present or neuroleptic medication is used.	false
+1c2102a72d3ed19b21e7225fa55901bdf3fd589c	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of Seckel syndrome, including intrauterine dwarfism, microcephaly with memory impairment, ossification defects, and ocular and @PHENOTYPICFEATURE$, thus providing clear confirmation that specific mutations of CENPJ can cause @DISEASE$.	false
+2e1fac1503a4276e13ffca5083da1667c4fc2534	By generating a hypomorphic allele of Cenpj, we have developed a mouse (Cenpj(tm/tm)) that recapitulates many of the clinical features of @DISEASE$, including intrauterine dwarfism, microcephaly with memory impairment, ossification defects, and ocular and @PHENOTYPICFEATURE$, thus providing clear confirmation that specific mutations of CENPJ can cause Seckel syndrome.	false
+f4180ed10a96818c38552036a9633321937f8082	@DISEASE$ is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and @PHENOTYPICFEATURE$.	false
+02ad57773acdd8ff184df87f2c5e14c34adb9eee	@DISEASE$ is an autosomal recessive disease presenting with microcephalic dwarfism, mental retardation and facial and @PHENOTYPICFEATURE$.	false
+10d191cfa046d36b32e50b1ec1d63a5cd8c96604	@DISEASE$ is an autosomal recessive disease presenting with marked growth retardation, microcephalic dwarfism, some facial and @PHENOTYPICFEATURE$.	false
+d71461c87dadb7b41ca297998fd7009c3a1d51af	We report a 19-year-old male with @DISEASE$ (bird-like dwarfism) who presents with malignant hypertension associated with @PHENOTYPICFEATURE$ nephrosclerosis, dilated cardiomyopathy, and a ruptured cerebral artery aneurysm.	false
+4a09785d9820d027c65b48b4a1655f42ef1f87c2	@DISEASE$ is a rare, recessively inherited disorder of severe growth retardation with low birth weight and distinct craniofacial, orodental and @PHENOTYPICFEATURE$.	false
+db3e76373116d6b6f4875b42fec7d6909ed6edf8	@DISEASE$ (NLE) is characterized by complete congenital heart block (CCHB), cutaneous rash, and @PHENOTYPICFEATURE$ in infants born to mothers with autoantibodies directed against SSA/Ro, SSB/La, or both.	false
+1d2089e808ee67a86ac377cc53505ce4b54b5476	After exclusion of closely mimicking conditions like congenital infections, neonatal onset multisystem inflammatory disease (NOMID), @DISEASE$ (NLE) diagnosis of SOJIA may be entertained even in a neonate where arthritis, @PHENOTYPICFEATURE$ and rash are the presenting features.	false
+9b96f2cd1231db11b0ae4b63668b21f428ec9b02	@DISEASE$ (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, @PHENOTYPICFEATURE$ and genitourinary defects in affected males.	false
+a1f3791b380ba4e71ce723dfbfd325416993507f	Previously, we demonstrated that when two human @DISEASE$ cell lines, Hep3B and HepG2, were exposed to gemfibrozil, a @PHENOTYPICFEATURE$ drug, a 2-fold induction in apolipoprotein A-I (apoA-I) mRNA levels resulted.	false
+349adf398b8bccbe07bb7772a2b45ff3ac07f5d9	MR features of peritumoral @PHENOTYPICFEATURE$, present in six of 21 patients with @DISEASE$ and in seven of 25 patients with metastases, were exclusively associated with malignant tumors.	false
+01cbdfeb1c167e89ec19783de7ff511e5c07ce90	Clinical features includes acute or chronic liver disease with increased risk of @DISEASE$, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, @PHENOTYPICFEATURE$, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism.	false
+d0a8a3db10055b7f7fd1aaa2115498463719cd73	The above changes depend on the size of @DISEASE$ and @PHENOTYPICFEATURE$ of the cerebral hemispheres and on secondary lesion of the brain mesodiencephalic and truncal regions.	false
+8f862b1b6aa5bbd47eee8672c6becd48de7d6d34	We report the case of a patient with @DISEASE$ who was admitted to our hospital with fatigue and @PHENOTYPICFEATURE$ of lower extremities.	false
+f7824970b39c2b6674e07846374ba85d1940e7c3	Remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ syndrome associated with cryptogenic @DISEASE$.	false
+b67c3598dd06a58822231c5af1d928d0a209f776	The clinical consequences of HHC if undetected and untreated can be severe and include liver cirrhosis,@DISEASE$, diabetes mellitus, @PHENOTYPICFEATURE$ and failure, arthritis, and hypogonadism.	false
+683e8cf481d252691da132aab94c0ea0f82393b5	@DISEASE$-Associated Polymyositis Presenting With Unilateral Upper Limb Subcutaneous @PHENOTYPICFEATURE$.	false
+74845409a9c096774838ed96e51a7fd53771f30e	It is important to recognize that @DISEASE$-associated PM may initially present itself with localized non-pitting @PHENOTYPICFEATURE$.	false
+c9c56105209db9be61cbea15e5e87b0157701d7b	Affected individuals may present with any of a number of signs and symptoms, including @PHENOTYPICFEATURE$, fever, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and @DISEASE$.1	false
+2772bd8091ca2410c454f2d8f66c834469d9d0ef	The authors describe a case of @DISEASE$ with involvement of the cervical spine and severe @PHENOTYPICFEATURE$ which was also present in many relatives of the maternal side.	false
+9819b0148c20fed3e71bf252f9ed2f72ce3f2dad	Short stature, @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies.	false
+a42354fa41f32072f776ccd4f9534b84c0a6a3f2	We have now treated two cases with unilateral @PHENOTYPICFEATURE$ in patients with known @DISEASE$.	false
+17459f86b01fc5178ea744c719d5a805539c3f03	@DISEASE$ (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and @PHENOTYPICFEATURE$ and has autosomal dominant inheritance with variable expression.	false
+3547a1340684c4b450979d688387d0b9a5ff2c1c	In few cases mutations in the @DISEASE$ gene have been found to result in X-linked recessive isolated @PHENOTYPICFEATURE$.	false
+85890984505667ac9523ba83d85b4dc8f12e3b8e	We herein report a case of a 50-year-old female with @DISEASE$-hypermobility type who presented with a 15-year history of migraines, @PHENOTYPICFEATURE$, and tinnitus.	false
+3c51e0d8292aab417d1ac615593c5e21c99fa8bb	@PHENOTYPICFEATURE$, hypohidrosis, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (@DISEASE$) deficiency.	false
+943de51d6067d29116482776b5c7666d5570f286	In this study, a high concentration of glucose (0.2?mmol per egg) was injected into the air sac of chick embryos on embryo development day (@DISEASE$) 1 to develop a @PHENOTYPICFEATURE$ model.	false
+af6d5268ed6049fd421ec41efd9a0503361eb517	In the present study, we aimed at elucidating the genetic basis of a new form of @DISEASE$ featuring @PHENOTYPICFEATURE$, scalp hypotrichosis and hypodontia.	false
+48f6c93a66eb0e067e8c01d8e2bf0ee95da30082	In the present study, we aimed at elucidating the genetic basis of a new form of @DISEASE$ featuring facial dysmorphism, scalp hypotrichosis and @PHENOTYPICFEATURE$.	false
+2d37e7b73d9108f65419750c6090ad7aaa164965	Although there was no abnormality in the hemostasis screening test, or any suspicious hereditary problem in his pedigree, genetic gene testing for vascular @DISEASE$ was recommended, and showed a de novo @PHENOTYPICFEATURE$ in the COL3A1 gene.	false
+2c7974d2494dd5362dc9c8e0a360ecbbe5f56862	Using a rat model, this is the first study to characterize the consequences of CKD in the onset and development of @DISEASE$ associated with differential regional @PHENOTYPICFEATURE$ and circulatory changes.	false
+610b9c71ea9a9ca6f46f26b6b7b14af1ecb22177	Two methods have been used to confirm de novo @PHENOTYPICFEATURE$ in families with @DISEASE$ and to trace their origin.	false
+708b112d95e98b463d152e4ca278096d651932c9	This study reveal an association between TAB2 mutations and a phenotype resembling @DISEASE$ with severe polyvalvular heart disease and subtle @PHENOTYPICFEATURE$.	false
+dd0a135a5861803b015ddaf00b9450d05dbdfcdd	@DISEASE$ type IV is a rare disorder of type III collagen synthesis that is characterized by @PHENOTYPICFEATURE$, thin translucent skin with a venous vascular pattern, easy bruising, and hypermobility of the small joints.	false
+58b2be83dbf08065f4d63ab44d9af9b9db587cf3	Disappearance of the @DISEASE$ or the cortical cysts and @PHENOTYPICFEATURE$ was demonstrated in 9 of 14 children treated by ventriculo-abdominal shunt and in 4 of 7 less seriously affected untreated children.	false
+b060e521d604dcb552d0004ec1b8db617335348e	A spectrum of histologic findings and multiple theories of pathogenesis have resulted in numerous names for the lesion, including multilocular cyst, benign cystic nephroma, cystic @PHENOTYPICFEATURE$, @DISEASE$, cystic Wilms tumor, and Perlmann tumor.	false
+566b25c39b58dc871695e8f5fdd1c0acac4ed48b	@DISEASE$ reconsidered: @PHENOTYPICFEATURE$ or neoplasm?	false
+2fd0e03a46a596546cd8cbc2d1694fbe17f367fd	@DISEASE$ is a congenital lymphatic @PHENOTYPICFEATURE$ of the lymphatic system that usually appears at childhood like a big mass at soft tissues that has a tendency to grow unless a completed excision is performed.	false
+479b005d052299ce1a8d1f6dafa371d89dae2368	Other findings not generally associated with trisomy 13 but present in this series included a large cisterna magna (six [18%]), mild @PHENOTYPICFEATURE$ (three [9%]), nuchal thickening or @DISEASE$ (seven [21%]), and a hypoplastic left side of the heart (seven [21%]).	false
+d90a7c1b37445eab7762b259ef0638d5599b8fca	@DISEASE$ is a congenital lymphatic @PHENOTYPICFEATURE$ known as lymphatic malformation.	false
+ecbf056712ac302acf13773cf234e14beb2aa07f	A case of Lhermitte-Duclos disease is reported in a 16-year-old girl with craniomegaly, choroidal @PHENOTYPICFEATURE$, and conjunctival papilloma of the right eye, and a history of bilateral multinodular adenomatous goiter and @DISEASE$.	false
+c243cbeac67de320b0aa3b9b324d622467a29065	A 34-year-old woman was referred for amniocentesis at 22 weeks of gestation because of an irregular-shaped skull, bilateral @PHENOTYPICFEATURE$, and nuchal @DISEASE$.	false
+a55a00736276fdd7e3a6f0a703aa8e4aa4277595	A case of @DISEASE$ (CH), a congenital lymph-filled multicystic @PHENOTYPICFEATURE$ of the neck, with a holistic approach to patient management is presented.	false
+b6fba7d681c02cea87d2eedf37aea651591439f7	@DISEASE$ is a rare form of a rare @PHENOTYPICFEATURE$.	false
+f845e5542c7062f478229cc45397f013a4f203f2	Atypical teratoid/rhabdoid tumor (@DISEASE$) is an uncommon and aggressive @PHENOTYPICFEATURE$ that often affects infants.	false
+7f8862e6b2ec51bc7dfd93791a4ae7e725bd4e4c	@DISEASE$ (AT/RT) is an uncommon and aggressive @PHENOTYPICFEATURE$ that often affects infants.	false
+0c018ec5964b66546dd9bd93982b184a54ddcffe	Histology showed an atypical teratoid/rhabdoid @PHENOTYPICFEATURE$ (@DISEASE$).	false
+4de3217457396a21b5f14d42d6cf4f9e90d6759a	Atypical teratoid/rhabdoid tumors (@DISEASE$) are aggressive @PHENOTYPICFEATURE$ that afflict infants and young children.	false
+070c27248f5ef7edffaea33f5fbb407dcf3a5628	@DISEASE$ (AT/RT) are aggressive @PHENOTYPICFEATURE$ that afflict infants and young children.	false
+cade3d547ee05f2af49c6a37107a694dd949f460	Atypical teratoid rhabdoid tumor (@DISEASE$) is a rare and aggressive @PHENOTYPICFEATURE$ usually occurring at younger ages.	false
+19a584a436b78b5416db09b9ac0e8f2351b42a07	@DISEASE$ (AT/RT) is a rare and aggressive @PHENOTYPICFEATURE$ usually occurring at younger ages.	false
+452becfe6e4d2457eafda989ce39a3f8adc13aca	Atypical Teratoid/Rhabdoid tumors (@DISEASE$) of the central nervous system are rare but aggressive @PHENOTYPICFEATURE$ of childhood.	false
+ec31f1f36c6193ab70d772636439109eef834b44	@DISEASE$ (AT/RT) of the central nervous system are rare but aggressive @PHENOTYPICFEATURE$ of childhood.	false
+b70cce5b53b2f35ac888057b254cfd888e5e63cd	An atypical teratoid/rhabdoid tumor (@DISEASE$) is a highly age-specific @PHENOTYPICFEATURE$ that occurs in infants and young children.	false
+89b3ad5915327fb84c6ac3194a20917c67246e1c	An @DISEASE$ (AT/RT) is a highly age-specific @PHENOTYPICFEATURE$ that occurs in infants and young children.	false
+7e49cf31f705e8bdc256d0accfaeaed009a9df9a	In the brain, these @PHENOTYPICFEATURE$ are known as @DISEASE$ (AT/RT).	false
+1382b75c8aaddf13fd952ad13ecdab0f6d88c4e8	In the brain, these @PHENOTYPICFEATURE$ are known as atypical teratoid/rhabdoid tumors (@DISEASE$).	false
+dd35c406e90b96a845438a0a29010d618aa4e878	The vast majority of AT/RT are recognized as primary tumors; however, rare @DISEASE$ or INI1-deficient RT arising from other primary @PHENOTYPICFEATURE$ have been reported.	false
+e809a9e25bca99fa615a470a16e4f160798b5355	The vast majority of @DISEASE$ are recognized as primary tumors; however, rare AT/RT or INI1-deficient RT arising from other primary @PHENOTYPICFEATURE$ have been reported.	false
+342c1af4c21a5d640743f592c0a574b574c19c30	The vast majority of @DISEASE$ are recognized as primary @PHENOTYPICFEATURE$; however, rare AT/RT or INI1-deficient RT arising from other primary tumors have been reported.	false
+985e948605361cbd21e01d05a67d32b392a73c47	The vast majority of AT/RT are recognized as primary @PHENOTYPICFEATURE$; however, rare @DISEASE$ or INI1-deficient RT arising from other primary tumors have been reported.	false
+7e64ddc47bf0f548b18db9a6bbde7206da333923	@DISEASE$ is a very aggressive and rapidly progressing @PHENOTYPICFEATURE$.	false
+8a2e0d37074179f5e77777d82268d4df45dadfa8	INI expression, which is not observed in atypical teratoid/ rhabdoid tumor (@DISEASE$), was found in this @PHENOTYPICFEATURE$.	false
+6632ccbcc81f2a76ced96fdaeed4eb8979dce537	INI expression, which is not observed in @DISEASE$ (AT/RT), was found in this @PHENOTYPICFEATURE$.	false
+adeae78f44fb5271e4f72d3af313b7304151eee5	Clinical analysis of the treatment of spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$ with umbilical cord mesenchymal stromal cells.	false
+f85b4350aa25a9c18f2c927adecfae82a764a515	There were 109 patients with sporadic @PHENOTYPICFEATURE$ (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-@DISEASE$ sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia.	false
+08e4de9dfdd47a2e2d060d34bb956c40a4c44bc7	There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-@DISEASE$ sporadic @PHENOTYPICFEATURE$) and 31 patients with familial cerebellar ataxia.	false
+da2226613e3770c314b3e22985e655534c472ce2	There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-@DISEASE$ sporadic cerebellar ataxia) and 31 patients with familial @PHENOTYPICFEATURE$.	false
+727aea0f8054718236d7b8ea8e7b75ed126b8543	Gene abnormalities were found in 57% of non-@DISEASE$ sporadic @PHENOTYPICFEATURE$ cases.	false
+951de46cb76d429ca55de85bcff6a51c0f3549ef	Sporadic ataxia affecting multiple systems, such as cerebellar, extrapyramidal, and autonomic systems, is known as @DISEASE$ (MSA-C), while similar multisystem involvements are seen in certain types of hereditary @PHENOTYPICFEATURE$, such as spinocerebellar ataxia type 3 (SCA3).	false
+77ecbeb3d7397e6488fdf431222472834e571e45	Sporadic @PHENOTYPICFEATURE$ affecting multiple systems, such as cerebellar, extrapyramidal, and autonomic systems, is known as @DISEASE$ (MSA-C), while similar multisystem involvements are seen in certain types of hereditary ataxia, such as spinocerebellar ataxia type 3 (SCA3).	false
+a8b26242d8c7da5b41ce10b1fcdf1efb353aa8c3	In fact spinal atrophy is observed in Friedreich ataxia, cortical cerebellar atrophy in Ataxia Telangectasia, gluten ataxia and Sporadic Adult Onset @PHENOTYPICFEATURE$ and olivopontocerebellar atrophy in @DISEASE$.	false
+618e52d57e7e1e9ec01a375e4745f5354eb9aff8	In fact spinal atrophy is observed in Friedreich @PHENOTYPICFEATURE$, cortical cerebellar atrophy in Ataxia Telangectasia, gluten ataxia and Sporadic Adult Onset Ataxia and olivopontocerebellar atrophy in @DISEASE$.	false
+5cadb3f92364e8ed13840d27af86f54c77938745	In fact spinal atrophy is observed in Friedreich ataxia, cortical cerebellar atrophy in Ataxia Telangectasia, gluten @PHENOTYPICFEATURE$ and Sporadic Adult Onset Ataxia and olivopontocerebellar atrophy in @DISEASE$.	false
+e4cf098e9f9bc600565fdada39c01979d3e0a0df	In fact spinal atrophy is observed in Friedreich ataxia, cortical cerebellar atrophy in @PHENOTYPICFEATURE$ Telangectasia, gluten ataxia and Sporadic Adult Onset Ataxia and olivopontocerebellar atrophy in @DISEASE$.	false
+9b54fb8c1b474799822a0be874b37df47ac3e8a9	Spinocerebellar @PHENOTYPICFEATURE$ (SCA) and @DISEASE$ (MSA-C) often present with similar clinical manifestations in the beginning.	false
+4e838602e7f9a842367985e119f3c4c8e6d40510	The aims of this study were to observe the safety and effectiveness of umbilical cord mesenchymal stromal cells (UC-MSC) in the treatment of spinocerebellar @PHENOTYPICFEATURE$ (SCA) and @DISEASE$ (MSA-C).	false
+4f6ab9c790ff0428a964bcc123c117f4078c0801	The purpose of this study was to examine a new MRI technology, dynamic cerebrospinal fluid (CSF) flow, to examine sporadic @PHENOTYPICFEATURE$ patients with cortical cerebellar atrophy (CCA) and @DISEASE$ (MSA-C).	false
+01954f1dc157f41d265b699478b24c4e91ad6859	Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-@DISEASE$ sporadic @PHENOTYPICFEATURE$.	false
+71e31fb281ded4ae13b07edbfac539fc17212b1a	@DISEASE$ (MSA-C) and spinocerebellar ataxia type 3 (SCA3) demonstrate similar manifestations, including @PHENOTYPICFEATURE$, pyramidal and extrapyramidal signs, as well as atrophy and signal intensity changes in the cerebellum and brainstem.	false
+ef8cee3906c57793c55b2382872b9e6fd7e5aaba	@DISEASE$ is a rare inheritable disorder characterized by @PHENOTYPICFEATURE$, nails and oral mucosa.	false
+559856265ef0e97d3bcecb3b5390a11ff62726df	@DISEASE$: oral @PHENOTYPICFEATURE$ in association with lichenoid reaction.	false
+234303f5f7fb74fda84b51972756d9ffcd0629c3	@DISEASE$ (DKC) is a rare syndrome characterized by @PHENOTYPICFEATURE$, nail dystrophy, leukoplakia, and pancytopenia.	false
+86cb5b7871ae469f619575999704e34ef3bf72f5	@DISEASE$ (DKC) is a rare, inherited disorder classically known by the triad of nail dystrophy, mucosal leukoplakia, and lacy reticulated @PHENOTYPICFEATURE$.	false
+1c7dc25a91b0fdb05a3e658008cf1cfc1a285353	@DISEASE$ (DC) is a rare inherited bone marrow failure syndrome associated with @PHENOTYPICFEATURE$, fingernails, and tongue.	false
+8bedc8ea2ebc2b59576b92b9c13202d27898f199	@DISEASE$ (DC) is a rare disorder characterized by @PHENOTYPICFEATURE$, nail dystrophy, and leukoplakia of mucous membranes.	false
+edfd2ed60ec76ef2c3ea31b632cc52c53646b2cf	@DISEASE$ (DC) is a multi-system disorder which in its classical form is characterised by @PHENOTYPICFEATURE$, nails and mucous membranes.	false
+0c41dc45f476d319634bc50a9df8c34a6d100296	Lingual @PHENOTYPICFEATURE$ in @DISEASE$: ultrastructural findings.	false
+fd678bd1c9c85cef101bd94e27ebb37c6c5cef66	@DISEASE$ (DC) is a rare condition characterized by reticulate @PHENOTYPICFEATURE$, mucosal leukoplakia, and nail dystrophy.	false
+b59a43a7b30853c1f4fc2c6250d813895c9c3d00	@DISEASE$ is a rare multisystem bone marrow failure genetic disorder characterized by reticular @PHENOTYPICFEATURE$, nail dystrophy, and oral leukoplakia.	false
+4d663052c42f978df928301c060930b0ee9fd887	@PHENOTYPICFEATURE$ in @DISEASE$: A literature review and assessment.	false
+27d03f05f351cc945d953c2bce605ead054ae683	@DISEASE$ (deficiency of high density plasma lipoproteins) is characterized clinically by: low levels of plasma cholesterol; enlarged, orange-yellow to yellow-gray tonsils and, frequently, @PHENOTYPICFEATURE$.	false
+e2daa9e9b5d87d868194aa6589317759720945dd	@DISEASE$ is a rare, autosomal recessive disorder caused by mutations in the ABCA1 gene and is characterized by near absence of plasma high-density lipoprotein cholesterol, accumulation of cholesterol in multiple tissues, @PHENOTYPICFEATURE$, and accelerated atherosclerosis.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+847ae6210a2ba4fb30860313efd28cddb6f1e0c2	A typical clinical manifestation of @DISEASE$ is @PHENOTYPICFEATURE$.	false
+76f04bf39680533217ebdce1aef971c00c8bca7b	@DISEASE$ is a rare familial disorder characterized by enlarged orange tonsils, transient @PHENOTYPICFEATURE$, hepatosplenomegaly, and lymphadenopathy, as well as striking reductions in plasma high density lipoproteins (HDL) and their major protein constituents, apolipoproteins (apo)A-I and A-II.	false
+ae8b881ee8153f43b8531cbe1f5cf613f4c4fd7e	We describe a patient with @DISEASE$ and a @PHENOTYPICFEATURE$ with an unusual acute onset.	false
+d6c27e6a932fdcb6cbf5c2bd20e2cd4fb365dc67	@DISEASE$ (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, @PHENOTYPICFEATURE$ and premature coronary heart disease (CHD).	false
+474dca793a4a54df50961cc271e654c259f69873	She had most of the clinical symptoms typically associated with @DISEASE$, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of @PHENOTYPICFEATURE$, but had no splenomegaly.	false
+96da3573a746113f791335e758df075561dd8394	However, none of the other features of @DISEASE$, including hepatomegaly, anemia and @PHENOTYPICFEATURE$, were present.	false
+5f54f2a6f051d2bced46e11dda737d058ffa0ac8	Actigraphy therefore would be particularly good for aiding in the diagnosis of delayed or @DISEASE$, non-24-hour-sleep syndrome and in the evaluation of @PHENOTYPICFEATURE$ in shift workers.	false
+3eed011e0e236c33adae5f66fe96c4cf300fa056	A @DISEASE$(DSRCT)is a very rare malignant tumor that mainly occurs in the intra-abdominal cavity in young adults.This neoplasm has an extremely poor prognosis, with a clinical course characterized by rapid progression and metastasis.We present a 31-year-old man who presented with chief complaints of dysphagia, @PHENOTYPICFEATURE$, and hoarseness.He first underwent surgical resection of a tumor in the medulla oblongata; however, the lesion was suspected to be a metastatic neoplasm.Following a thorough medical examination, the patient was diagnosed with retroperitoneal DSRCT with multiple metastatic lesions.He received multidisciplinary treatment including debulking surgery for the primary lesion; radiotherapy for metastatic lesions in the brain, abdomen, and cervical lymph nodes; hepatic artery embolization for liver metastasis; and systemic chemotherapy.The patient died of progressive disease 17 months after the initial diagnosis.	false
+82c45a2834949f0a3ef98474f3cd16a4c98912d5	Complex regional pain syndrome is a neuropathic @DISEASE$ that is characterized by: severe pain beyond the area of injury; autonomic dysregulation; neurogenic edema; @PHENOTYPICFEATURE$; and atrophy and dystrophy.	false
+fcb9768f2cdf6c842ede977f524e16f7d4f2733e	The study is based on clinical examination of @PHENOTYPICFEATURE$ in 126 patients (men--103, women--23) with lumbosacral @DISEASE$.	false
+d01f9420cd7157cb6c132b13740438f869665b58	Other gastrointestinal toxicities, asthenia, acute @DISEASE$ and @PHENOTYPICFEATURE$, were mild to moderate.	false
+b8a43387fd5c96dd8f98efc875a4caf1e7126809	[Late isolated form of chronic trophic @PHENOTYPICFEATURE$ of the skin or Nonne-Milroy-@DISEASE$].	false
+6b3227eefc4cc2d316daf3c9643535338660e362	All snakes in the infected group (n = 8) developed gross and microscopic lesions identical to those observed in wild snakes with @DISEASE$; snakes in the control group (n = 7) did not develop @PHENOTYPICFEATURE$.	false
+a88d965f6fc808b382b319035e24a2f529e6765e	@DISEASE$, associated with paternal chromosome 15q11-q13 silencing, is characterized by neonatal/infantile hypotonia, growth failure, and @PHENOTYPICFEATURE$ in the first 1 to 2 years of life, typically followed by hyperphagia and obesity.	false
+f96bb63f5fe9c852d4ecf5d61024d33bee01872c	@DISEASE$ (PWS) is a syndrome characterized in babies by small birth weight, hypogonadism, flaccid muscle tone, and @PHENOTYPICFEATURE$, and in older children by intense food cravings leading to morbid obesity, hypoxemia, and right heart failure.	false
+fb674ee12dd7c5e08639751266e602c0bafb33b6	Global @PHENOTYPICFEATURE$ is a prominent characteristic of individuals with @DISEASE$ (PWS).	false
+f0033ea272b75c64177bca9564d9f756c5686df5	@PHENOTYPICFEATURE$ in the brainstem of prenatal mice lacking the @DISEASE$ gene Necdin.	false
+43d3a1c083837ce2a4b260c0fbc0fe2d05eb8697	Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting in complications such as corneal ulcerations and retinal @PHENOTYPICFEATURE$, a distal @DISEASE$, delayed puberty, swallowing difficulties, pancreatic deficiency and central nervous system involvement.	false
+7301cf4bf947ba4f5e3a176e1da935e43421cc7a	A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with ventricular dilatation, a persistently open fontanelle, lymphadenopathy, @PHENOTYPICFEATURE$, developmental delay, failure to thrive, persistent @DISEASE$, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs.	false
+c37c13e54e7e2acbb8321146174df14bb72fd1a8	@DISEASE$ and @PHENOTYPICFEATURE$ were present in all the patients.	false
+eda289564f1597e38fbdcb75c96532ecebacc549	A 43-year-old woman presented with headache, nausea, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5ce6afacb2ce08c6d20dd3c39357505fab03442d	She presented with recurrent ovarian cysts, menstrual disturbances, headaches, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5cad06c88076c413f3efdc3602fe045ec9457741	A 73-year-old female presented with a large empty sella with herniation of an elongated third ventricle concomitant with herniation of the surrounding subarachnoid space into the sella, manifesting as @PHENOTYPICFEATURE$ and amenorrhea without @DISEASE$.	false
+56bcd7e3909041a37aae96c23166507978659a1c	First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and @PHENOTYPICFEATURE$, hypoglycemia, amenorrhea, and @DISEASE$, the patient was then diagnosed with PGA-II.	false
+932ed227dbb7b9c191f9611d32b0f1b352d0fdc6	This trend is associated with @PHENOTYPICFEATURE$ and the occurrence of @DISEASE$ in young individuals.	false
+47d638c2a38bf97d6be59639cbb90d40d420c741	Diabetic autonomic neuropathy is a possible link between @PHENOTYPICFEATURE$ in @DISEASE$ (T2DM) and risk for atrial fibrillation (AF) and heart failure (HF).	false
+f4a709062e1dbc81ab5279de9fe09038f66eb0ce	Renal disease and cardiovascular complications in @DISEASE$ are associated with @PHENOTYPICFEATURE$ and fibrosis, both of which may occur with impaired fibrinolysis.	false
+823a7124ecfcd0c43c80cfcda6ba30ad7b15afb3	New-onset @DISEASE$, hyperosmolar non-ketotic @PHENOTYPICFEATURE$, rhabdomyolysis and acute renal failure in a patient treated with sulpiride.	false
+4859e2bf170998304d9aae34e9eeb412bbb46fd3	@PHENOTYPICFEATURE$ in @DISEASE$ identified by arterial waveform analysis.	false
+981bdd48cefbea6fa516375b49d36c5d86cd46a3	A common SGK1 gene variant ( approximately 3 - 5% prevalence in Caucasians, approximately 10% in Africans) is associated with @PHENOTYPICFEATURE$, obesity and @DISEASE$.	false
+eac70008ee42b768b5dc7d73c4c69a17d16d158d	[Woman with @DISEASE$, @PHENOTYPICFEATURE$, hypocalcemia and arterial hypertension].	false
+d18dc9eaf918f86b9d6407081a33857c92781344	Diabetic nephropathy (DN) represents one of the main causes of @PHENOTYPICFEATURE$ in @DISEASE$ (DM) patients.	false
+d6eefa9702c42ca27fb16d2edf66e2221567cf70	Our objective was to determine whether hyperinsulinemia is associated with @PHENOTYPICFEATURE$ among middle-aged adults without @DISEASE$, dementia, or stroke in the Atherosclerosis Risk in Communities (ARIC) cohort.	false
+a869542890ec0814c8875c3f99db8fe2ff333136	@PHENOTYPICFEATURE$ and @DISEASE$ are two common conditions considered to be multifactorial.	false
+0e6ea510073dae9f98865342259fdfd3c4b55644	More than 30 cutaneous paraneoplastic syndromes have been identified; this article reviews some of the more common syndromes--acanthosis nigricans, Paget's Disease, @DISEASE$, telangiectasia, @PHENOTYPICFEATURE$ lanuginosa acquisita, erythroderma, Bazex's Syndrome, and necrotizing migratory erythema.	false
+008b4f14ecc3e59567129f7f99304ea05435b28d	Above all, dermatomyositis, figurate erythemas, erythroderma and a number of bullous dermatoses (e.g., bullous pemphigoid, pemphigus vulgaris and dermatitis herpetiformis, Sweet' syndrome, pruritus, prurigo, acanthosis nigricans, Leser-Tr?lat sign, alopecia mucinosa, @DISEASE$, Bazex' syndrome, @PHENOTYPICFEATURE$ aquisita lanuginosa) are among the paraneoplastic dermatoses.	false
+60496ac9706d01207c670cb958e31811e0851d43	Paraneoplastic cutaneous dermatoses have been reported as markers of breast malignancy and include erythema gyratum repens, @DISEASE$, dermatomyositis, multicentric reticulohistiocytosis, and @PHENOTYPICFEATURE$ lanuginosa acquisita.	false
+0f26bcf0172bb519550781aa4e714081dd188a9c	This contribution presents the morphologic aspects and the differential diagnosis of the main paraneoplasias, which include acanthosis nigricans, tripe palms, Leser-Tr?lat sign, @DISEASE$, acquired @PHENOTYPICFEATURE$ lanuginosa, pityriasis rotunda, erythema gyratum repens, palmo-plantar keratoderma, Bazex syndrome, and dermatomyositis, hoping to contribute to the familiarity of dermatologists with the identification and early diagnosis of this group.	false
+4e1d9179a9ea4f45ed2e7e7ba21652f37ac08e0b	Eighteen liver biopsies and 14 liver explants from pediatric patients with extrahepatic @PHENOTYPICFEATURE$ (EHBA), Alagille syndrome (AGS), primary sclerosing cholangitis (PSC), inborn errors of bile acid synthesis, and @DISEASE$ (PFIC) were examined along with 5 histologically normal control liver biopsies.	false
+8e097db9e9b7c5820a0b78c4cfc2bacb7a8c990e	The most common indications were @DISEASE$ and @PHENOTYPICFEATURE$ (45 cases each).	false
+9f35ee70f155dd0d9f8a0b3fca596eab8fe43c66	The diagnoses included 32 patients with extrahepatic cholestasis (@PHENOTYPICFEATURE$ (BA) and choledochal cyst), and 8 patients with intrahepatic cholestasis (@DISEASE$ and Alagille syndrome).	false
+4eab468a56fc2d45cc20ebac66c88c69699a0ddb	Poor growth is a typical feature of @PHENOTYPICFEATURE$, cystic fibrosis, @DISEASE$ and Alagille syndrome.	false
+ecaffae1c3039e0499d4c712cac6bcab8be66d48	Intrahepatocellular accumulation of bile acids, as seen in patients with @DISEASE$ and @PHENOTYPICFEATURE$, was associated with diminished apoA-I serum levels.	false
+c3a9b174fe73fcf597595d05530f9c448bfae575	The main indications were Wilson's disease (20.3%); cryptogenic cirrhosis (16.7%); autoimmune cirrhosis (14.5%); @PHENOTYPICFEATURE$ (13.8%); tyrosinemia (9.4%); and @DISEASE$ (8.7%).	false
+24fb110a031c8f802985f0e1b7f1fd311fe8a2f3	Highlights include new understanding of the role of Mrp4 in bile acid homeostasis in cholestasis, new insights into the pathogenesis of specific cholestatic syndromes including primary biliary cirrhosis, primary sclerosing cholangitis, @PHENOTYPICFEATURE$, and @DISEASE$, and clinical trials of therapies for primary biliary cirrhosis, primary sclerosing cholangitis and intrahepatic cholestasis.	false
+34f54f7c1058c0281a7180eb9ff20be260e1e91a	@DISEASE$ associated with recurrent otitis media and @PHENOTYPICFEATURE$, and identification of male carrier with Klinefelter syndrome.	false
+9e07093920e6d29fb384728b919946278158853d	A child with Down syndrome and a history of @DISEASE$ resected at age 1 year presented at age 7 years with @PHENOTYPICFEATURE$ of subacute onset.	false
+84bff5a522618957d0e7cd8d0670c226466fffb6	Clinically, these patients presented with minimal @PHENOTYPICFEATURE$ and @DISEASE$ and had normal intelligence.	false
+438aef0b338c00f1d4023337b7e3309d49a8361b	No mutations were found in the epilepsy, @PHENOTYPICFEATURE$ or @DISEASE$ samples.	false
+b18d9f35f4840c0b8ef7cc64fb334316577fb0b8	@DISEASE$ (DCM) is a common disorder characterized by cardiac @PHENOTYPICFEATURE$ and reduced systolic function.	false
+3b33b074e0cde98d0a3051290a6959d1595840e5	Previously reported LGMD2M patients had mild or minimal @PHENOTYPICFEATURE$ in addition to @DISEASE$.	false
+6b616c7cdc6bdab9a59133045c4721ae82a4a8df	@DISEASE$ (DCM) is characterized by cardiac @PHENOTYPICFEATURE$ and systolic dysfunction.	false
+77adf8fb2c7226b83fed61715e296a2128efced6	We reported a girl with mitochondrial encephalomyopathy, who had various neuromuscular symptoms including @DISEASE$, generalized convulsions, myoclonus, @PHENOTYPICFEATURE$ and growth retardation.	false
+0a1fabb4cd7334dc3ce0382cbe7ae6e2f9f92b90	@DISEASE$ (DCM) is characterized by @PHENOTYPICFEATURE$ of left ventricular cavity with systolic dysfunction.	false
+52ad44f7916d73a53d7746cb5a43d28c15be54df	@DISEASE$ (DCM) is characterized by a @PHENOTYPICFEATURE$ left ventricular cavity with systolic dysfunction manifested by heart failure.	false
+03f535a8d375bd52c4a09477168b8aed5f9716ca	In addition, the patient had severely delayed gross motor milestones, marked @PHENOTYPICFEATURE$, and @DISEASE$ that progressed to congestive heart failure.	false
+405cef78e161714bab419364cdb58ef954af5240	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, @PHENOTYPICFEATURE$, and cardiac defects that include arrhythmias and @DISEASE$.	false
+640305f94d5463bf4e60ba554d1d44fe1ad1669f	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal @PHENOTYPICFEATURE$, joint contractures, and cardiac defects that include arrhythmias and @DISEASE$.	false
+75a40d68c8bb535080824c751dbb67f5e341261a	Some neuromuscular disorders, such as Duchenne muscular dystrophy, @DISEASE$, @PHENOTYPICFEATURE$, alcoholic myopathy and mitochondrial myopathies are characterized by oxidative stress and loss of muscle fibres due to apoptosis.	false
+424e3d9d6e6c0f4a228168a368cf74a369f4e094	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with @DISEASE$ (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even @PHENOTYPICFEATURE$.	false
+a154d985e239822c7da7413861bc9dda026315cb	A platelet count of 1,000,000/microliter or less was maintained by the use of repeated plateletpheresis over a period of three months in a patient with @DISEASE$, who had frequent @PHENOTYPICFEATURE$ episodes.	false
+329e593f65a411bc8981eaadbd6611c3038ba90f	@DISEASE$, hypothyroidism, cleft palate, and @PHENOTYPICFEATURE$.	false
+a667d67eaaef4611e0aa13980ba745dfdaf5e2ea	We also found 31 scientific articles resulting in 23 records of @PHENOTYPICFEATURE$, 12 of leucism, 71 of @DISEASE$ and 92 records classified as undetermined pigmentation.	false
+9f121c84555c7326e2c1f754bda03eb6ac92c773	@DISEASE$ is an uncommon autosomal dominantly inherited @PHENOTYPICFEATURE$ characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities.	false
+05b412e26e76b5e9c5901e7cb93a379c68e75a53	Full-thickness and epidermal autografts of normally pigmented skin were transplanted within @PHENOTYPICFEATURE$ areas in each of two patients with @DISEASE$.	false
+07411665c0ad6ff0c7a913f7c445d0431e4357a4	Localized @PHENOTYPICFEATURE$ can be found in @DISEASE$, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+2d4b36accc5f2bdb79f781dc4120225b6c33ea2e	Localized hypopigmentation can be found in @DISEASE$, Waardenburg syndrome and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+fa2e5790db94b678aff5755c88bdfb8bdb51d073	Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, @DISEASE$, congenital @PHENOTYPICFEATURE$, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus.	false
+1de6aa9224896aae526b0a4847d287787aa417ab	Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, @DISEASE$, congenital albinism, Hypomelanosis of Ito, post-inflammatory @PHENOTYPICFEATURE$, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus.	false
+9233e1c19dc3187905688c165ad3a73b7d18f422	[Partial familial @PHENOTYPICFEATURE$ (@DISEASE$): ultrastructural study].	false
+f747801a798a974c3e6ddc35497c98592c1643e1	@PHENOTYPICFEATURE$, leucism and @DISEASE$).	false
+80e1258204d7e458c8f6ab6f93f350a823913154	@DISEASE$ is a disorder in which the major clinical features are patchy @PHENOTYPICFEATURE$ and a white forelock.	false
+a11175a73437a1ed3b8a281dc5f869fa3f9b2f9b	@DISEASE$ is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing @PHENOTYPICFEATURE$ areas.	false
+94f42c948a47e6de21870c420bdba0e77f7cd040	Disorders of @PHENOTYPICFEATURE$ may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., albinism, @DISEASE$, tuberous sclerosis, hypomelanosis of Ito).	false
+a20ba3ff7f70f439977d9ad2893fd845f818c564	Disorders of hypopigmentation may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., @PHENOTYPICFEATURE$, @DISEASE$, tuberous sclerosis, hypomelanosis of Ito).	false
+6f264bf4cccd2cf94b9d9582966a0e54d4130e6d	Causes of VOI included @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7d5ac94efbd52c732555f4f34fc52f8ee6b7c0de	@DISEASE$ (BCS) is defined by clinical and laboratory signs associated with partial or complete impairment of hepatic venous drainage in the absence of right @PHENOTYPICFEATURE$ or constrictive pericarditis.	false
+4cafbabb24995019f81f8698d4fee5c24c95e315	To attempt to reduce the incidence of hepatic and @PHENOTYPICFEATURE$ after radical surgery for the @DISEASE$.	false
+a29b34ffe7a2160b4eb6aa78d1eb624c105662db	A case is reported of hepatic vein thrombosis (@DISEASE$) complicating ventriculoatrial shunt for tumoral @PHENOTYPICFEATURE$.	false
+9b504ef956b9eeac53c86c49867eab308f38c805	@DISEASE$ (BCS) is a disorder with numerous causes that is a result of hepatic outflow obstruction, in the absence of right @PHENOTYPICFEATURE$ or constrictive pericarditis.	false
+37e4e7222e13d5e16fcc37b0a4f77e03c661f379	@DISEASE$ is a rare disorder characterized by hepatic venous outflow obstruction at any level from the small hepatic veins to the atrio-caval junction, in the absence of @PHENOTYPICFEATURE$ or constrictive pericarditis.	false
+3359b88f1e6e66e63d02e3d0609b9dd11e75e424	Laparoscopic transhepatic measurement of pressures in the branches of the portal vein (and hepatic vein) were performed in 42 patients with hepatitic cirrhosis of the liver and compared with those obtained in patients with other defined causes of cirrhosis (alcohol, pigment, @DISEASE$, right @PHENOTYPICFEATURE$).	false
+aacf09e943bd891d6bc31f5985de888380f5a911	In this setting, hepatic sinusoidal dilatation can be related to pericardial disease, @PHENOTYPICFEATURE$, compression or thrombosis of the hepatic veins or inferior vena cava (i.e., @DISEASE$) or central veins/sinusoids involvement (i.e., sinusoidal obstruction syndrome).	false
+930c2a3d96ce217a8b3f8a29ca550fb60461df41	This condition has some differential diagnoses such as liver cirrhosis, @DISEASE$, @PHENOTYPICFEATURE$, and idiopathic portal fibrosis.	false
+7419c92a7c60dfbcdd31f32e006e6ac20d107cad	The most commonly reported complications of giant haemangiomas are rupture with intraperitoneal haemorrhage that is either traumatic or non-traumatic, consumption coagulopathy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+65527ac37d48d0afebb42c88e29bc546f45da0fc	This study demonstrated that resuscitation with @DISEASE$ and especially with HES could reduce lung tissue damage and @PHENOTYPICFEATURE$ after severe uncontrolled HS.	false
+61bc5021f3e460c4a6cce0f024514d09ca820adb	Resuscitation with @DISEASE$ attenuates the @PHENOTYPICFEATURE$ and tissue injury due to lower-torso ischemia-reperfusion and maintains a more benign immunologic profile.	false
+bcdc6fdcb6d7e93c7b21f105e594c37262117c34	Combined treatment of magnolol and @DISEASE$ further suppressed the @PHENOTYPICFEATURE$, iNOS, and TNF-? expressions, and plasma peroxynitrite, compared with the results of a single treatment of magnolol or HTS.	false
+a93f629f5bf4127b3fa22c05d067dbf2ed5741dd	Combined treatment of magnolol and HTS further suppressed the @PHENOTYPICFEATURE$, iNOS, and TNF-? expressions, and plasma peroxynitrite, compared with the results of a single treatment of magnolol or @DISEASE$.	false
+b2455abbb352ad9532bb68402c0c6fffd3b2804e	The combined treatment of estrogen and @DISEASE$ further significantly diminished p-I?B? and iNOS expression, @PHENOTYPICFEATURE$, and MPO activity and improved the inflammation of the lung and the morphology of the gut in histology compared with the results of a single treatment of estrogen or HTS.	false
+2e18d79afc27cc059ca6daf61dd9b0d090e72329	The combined treatment of estrogen and HTS further significantly diminished p-I?B? and iNOS expression, @PHENOTYPICFEATURE$, and MPO activity and improved the inflammation of the lung and the morphology of the gut in histology compared with the results of a single treatment of estrogen or @DISEASE$.	false
+46427ebc4233576f89008846cb22b86e197b8610	Multiple squamous cell carcinomas can be related to: xeroderma pigmentosum, Ferguson-Smith, Muir-Torre syndrome, Mibelli-type @DISEASE$, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Rothmund-Thomson syndrome, Bloom syndrome, and epidermodysplasia verruciformis.	false
+53d89733469370db517f7fb844063226173acf18	A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse @PHENOTYPICFEATURE$, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to have @DISEASE$ on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i antibodies) findings.	false
+331a45e70768ccb94026a9a70554167fe62dcdc5	63 patients were studied, including 14 with encephalitis, 12 with neuritis, nine with cerebral vasculitis, six with multiple sclerosis (MS), five with severe cephalgia, five with psychiatric symptoms, three with hearing loss, two with seizures, three with white matter diseases, two with @PHENOTYPICFEATURE$, one with @DISEASE$ and one with sinus venous thrombosis.	false
+3e12930348126ca9d7750d965e1cfc9d57129dae	Here, the effect of rhythmic auditory cueing on movement is discussed and representative findings of cued movement rehabilitation are considered for several movement disorders, specifically post-@PHENOTYPICFEATURE$ motor impairment, Parkinson's disease and @DISEASE$.	false
+af2d01a53e6050679bdc449b92a09fcfe147ec2b	We report an adult-onset case of @DISEASE$ presenting with @PHENOTYPICFEATURE$ and cerebellar ataxia.	false
+654a2736e7d97eac1eb5d63d60c7211b9b9422f9	The assay was additionally validated for SNF472, an experimental formulation of phytate being developed for the treatment of calciphylaxis and CVC in patients with @PHENOTYPICFEATURE$ (ESRD) undergoing hemodialysis (@DISEASE$).	false
+af38a91fa815c8127d7e31d6d014fe72306a0a9a	For example, increases in the number of trinucleotide repeats have been associated with human genetic disease, including Fragile-X @PHENOTYPICFEATURE$ and @DISEASE$.	false
+719415898dbaf4c9b4b95d7662f4febe0a520332	Correlates of early @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b924557cf53519896b37f339cf986249cb164f5b	@DISEASE$ (HD) is a neuropsychiatric disorder characterized by choreiform movement of the limbs, cognitive @PHENOTYPICFEATURE$, psychosis and dementia.	false
+d3d81dc2f805ed9a23bfa60c56843517a5d0ae75	Aggressive behavior has been associated with numerous neurologic conditions including traumatic brain injury, @PHENOTYPICFEATURE$, developmental disorders, @DISEASE$, and several dementias.	false
+54151024ceb36b4f30af58a304077b5bd32b47ca	This case confirms the rare coexistence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8572a427525804eda8005645ac17f27ec4a30abd	[A case of adult-onset @DISEASE$ presenting with @PHENOTYPICFEATURE$ and cerebellar ataxia, mimicking spinocerebellar degeneration].	false
+3b82820cfbd350a3c6782f0160f756576c690899	PAK in Alzheimer disease, @DISEASE$ and X-linked @PHENOTYPICFEATURE$.	false
+3186113b2f9b7aca75cc6d0b2d03e0ddedf373ec	@PHENOTYPICFEATURE$ and naproxen pharmacokinetics in a patient with @DISEASE$.	false
+5300d4b8170d0a51d48d7c362e012c34dd8e2cdc	We did not find an association between risk of psoriasis and antecedents of stress, diabetes, hypertension, @PHENOTYPICFEATURE$, cardiovascular disease, or @DISEASE$.	false
+a40c060d404b577ecea023251283b6bdc77286e3	Discriminative function was assessed by having patients with one of six painful conditions (postherpetic neuralgia, phantom @PHENOTYPICFEATURE$, @DISEASE$, ankle fracture, appendicitis, or labor pain) complete the questionnaire.	false
+3c9d510c75ea1b22ac557b97c3a53dd724f25cfa	Currently, inhibitors to some of these inflammatory substances are used therapeutically in other chronic illnesses such as @DISEASE$ and cancer @PHENOTYPICFEATURE$.	false
+6a05e145962b21646b3dff2a5a0243da718a1f10	We have described a patient with severe @DISEASE$ and a history of mefenamic acid nephropathy in whom hyperkalemia and inappropriate @PHENOTYPICFEATURE$ were caused by both indomethacin and naproxen, without major decline in renal function.	false
+4abc8372998d65354c2fe7be6e3079539704ea3c	[Spontaneous @PHENOTYPICFEATURE$ in a patient with uremia and @DISEASE$].	false
+dc0282ba4f85314d9a9557a9aa575bf80fc5a733	We describe the development of a cutaneous @PHENOTYPICFEATURE$ in a patient with @DISEASE$ who was treated with methotrexate.	false
+b1910200b53d67c2175d2307b77a9bd59fe0c3fa	Relapsing polychondritis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d982b44e3d3974ae35f058ea1af35369dcc93dec	@PHENOTYPICFEATURE$ and adiposity in @DISEASE$.	false
+5c0dd7b9bc7fed5115cb2dbc16150c01cd0d9186	@PHENOTYPICFEATURE$ and Lytic Bone Lesions Masquerading Inflammatory Arthritis Treated as @DISEASE$.	false
+179f16468b7bf0ae6321ed82ee48bffc500651fd	The study was performed in 45 volunteers (aged <1 month-72 years) who comprised 1 subject with @PHENOTYPICFEATURE$, 1 subject with @DISEASE$ and 43 subjects with normal growth.	false
+917c77b81a3bdace3ddf398eff183d1f485b2273	Underlying medical and ocular conditions were as follows: upper eyelid hemangioma with oblique myopic astigmatism, Pelizaeus-Merzbacher leukodystrophy with nystagmus, @DISEASE$ with glaucoma, incontinentia pigmenti with unilateral @PHENOTYPICFEATURE$, and Goldenhar syndrome with unilateral optic nerve hypoplasia.	false
+a8b0f69324ed58079807106cf048ae9d677c8914	@DISEASE$ variety was diagnosed in a twelve year old male child with cutaneous @PHENOTYPICFEATURE$ and dystrophic changes in nails of hands and feet.	false
+6a3beba9a81b1d14928bca5594e718e391f41b11	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+487c67c6dfcc059f2b1efa92f99e3444ce65e9ac	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+2329de07b74ff4594e343029aa5ff5aea75ee8a8	The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary '@DISEASE$' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and '@PHENOTYPICFEATURE$-capillary malformation'.	false
+1c54cefb1b6665ddc50b174e0558ece1f25c7b6b	Factors identified in these patients that may have been linked to liver toxicity included diabetes, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3913bf237040bc62c007465f3607fbd8dcc1b9b3	Six patients had @DISEASE$, about 12 patients had @PHENOTYPICFEATURE$, and the patient under discussion had subacute bacterial endocarditis.	false
+3920f57789a675325e1155e72b40dda6a3313f52	Patients with confirmed cirrhosis should be assessed for potential complications (ascites, @PHENOTYPICFEATURE$, oesophageal varices or @DISEASE$).	false
+9f2026e58c744cf872096c8f03260bbdaba42381	Liver-related events (ascites, @PHENOTYPICFEATURE$, oesophageal varices or @DISEASE$) appeared in 53 patients (10%).	false
+f2bcd22897160a995c96a3a63b7e69b288e5383e	Severe complications were defined as death or liver transplantation, ascites, bleeding from esophageal varices, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+cf501a44e07f25f5e01e015c990ef6ad326d2374	@DISEASE$ in young, @PHENOTYPICFEATURE$ HBsAg carriers without cirrhosis.	false
+038093a26fc09e010ae0e503dde021eee11e6a73	A young patient with @DISEASE$ receiving chemotherapy presented with @PHENOTYPICFEATURE$.	false
+6ca5f9375e2d8690e2fba7a44f093a196107c1f9	Hypercalcemic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+f35d61bb816aa2add3deb7a6c4f3155789db5cbe	Patients with @PHENOTYPICFEATURE$, @DISEASE$ were excluded.	false
+041ae8547522e26c821e0d9f4020601669ed2b90	Ascites, @PHENOTYPICFEATURE$, haemorrhage, @DISEASE$, and death were considered liver-disease-related events.	false
+fee627e715cd0216bd807d70f8d240f646e99dde	Those that do are at risk of decompensated liver disease including GI bleeding, @PHENOTYPICFEATURE$, severe lab abnormalities, and @DISEASE$.	false
+9c1fa357ccbbf06e07b117e2ae484283dffe1ba3	@DISEASE$ (HCC) is a worldwide malignance and displays marked @PHENOTYPICFEATURE$ and active metastasis.	false
+7e3cbae5a670f3b4ea9d3d454e3c96e4a7a79736	Eight children had partial and 8 had @PHENOTYPICFEATURE$; 4 of the latter had Lennox-Gastaut syndrome (@DISEASE$).	false
+297a96d06cc99e72bdb7357e9dd87148e82db70c	Eight children had partial and 8 had @PHENOTYPICFEATURE$; 4 of the latter had @DISEASE$ (LGS).	false
+e53893a3dab63ec45c1aadd9267e40f2a2c86100	Rufinamide for @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+a799a453e8079c21ff92d69738b7979689162f75	Lamotrigine was particularly effective in generalised seizures, especially @PHENOTYPICFEATURE$ and those related to the @DISEASE$.	false
+aefe173a13ea4291dcea0d122835ea5020c02e01	Lamotrigine was particularly effective in @PHENOTYPICFEATURE$, especially absence seizures and those related to the @DISEASE$.	false
+07487bb239841192fdde08dee88ff4b2a5213fdc	Among nonsymptomatic epilepsies exhibiting several types of @PHENOTYPICFEATURE$ in children two syndromes were progressively identified: epilepsy with myoclonic-astatic seizures (MAE) and nonsymptomatic @DISEASE$ (LGS).	false
+26937013342f1045a846c9d940fbd15b7b764b43	Among nonsymptomatic epilepsies exhibiting several types of @PHENOTYPICFEATURE$ in children two syndromes were progressively identified: epilepsy with myoclonic-astatic seizures (MAE) and nonsymptomatic Lennox-Gastaut syndrome (@DISEASE$).	false
+3998b5580a7f7859263116bd3e99251136461661	However, Madopar seemed to have aggravated @PHENOTYPICFEATURE$ in the patient with @DISEASE$.	false
+803162693725d6587524128f22b7ae41a95dfdbf	Lamotrigine for @PHENOTYPICFEATURE$ associated with the @DISEASE$.	false
+803162693725d6587524128f22b7ae41a95dfdbf	Lamotrigine for @PHENOTYPICFEATURE$ associated with the @DISEASE$.	false
+7f769f0ef1c03dde600f93ee1842ee325d66a4bd	Other epileptic conditions identified requiring implantation included @PHENOTYPICFEATURE$, generalized-atonic seizures, @DISEASE$, CPS or generalized seizures, and tuberous sclerosis (with generalized characteristics).	false
+74fcc3ee03329ff8ab6934181af9373536ab6d75	Other epileptic conditions identified requiring implantation included generalized seizures, generalized-atonic seizures, @DISEASE$, CPS or @PHENOTYPICFEATURE$, and tuberous sclerosis (with generalized characteristics).	false
+9d0d540408192777f050a376a4fb1c10c21c93d1	Both simple and complex partial seizures and secondarily generalised tonic-clonic seizures are reduced by lamotrigine, with @PHENOTYPICFEATURE$ (particularly absence seizures, atonic seizures and @DISEASE$) tending to be more responsive than partial seizures.	false
+7c0abb4f7caebb831270d184f1b2accc778d531d	Both simple and complex partial seizures and secondarily generalised tonic-clonic seizures are reduced by lamotrigine, with generalised seizures (particularly @PHENOTYPICFEATURE$, atonic seizures and @DISEASE$) tending to be more responsive than partial seizures.	false
+94604996a76eed47013dfac90025791ba2d63090	Lamotrigine has demonstrated efficacy from published randomized clinical trials for childhood partial seizures, @PHENOTYPICFEATURE$, and for the generalized seizures associated with @DISEASE$.	false
+95f3fdfdc54b41ea95388c97d407c26589408242	Lamotrigine has demonstrated efficacy from published randomized clinical trials for childhood partial seizures, absence seizures, and for the @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+e96fcca9b9b4bd2c0377fbeabae0b8c61e7bdbba	@PHENOTYPICFEATURE$ was the most common diagnosis (41%), followed by idiopathic cases (13%), progressive familial intrahepatic cholestasis (PFIC, 10%), cholestasis in preterm infants (10%), ?1@DISEASE$, Alagille syndrome, portocaval shunts, mitochondriopathy, biliary sludge (all 2%), and others.	false
+9b18e07d03571551899f40234e7d2ab473a77d5b	@DISEASE$ hamartoma associated with @PHENOTYPICFEATURE$ in an elderly patient is an extremely rare clinical presentation.	false
+2b86305ecd8a27941ecff2bd47a95711d46e8e40	Nonimmune hydrops fetalis, hydramnios, @PHENOTYPICFEATURE$, and intracranial @DISEASE$ hemangioendothelioma.	false
+0fafb8c25ab25fd4ffeb8f88c7e2519e90d8a820	[Certain obstetrical factors in @DISEASE$ @PHENOTYPICFEATURE$ and hemorrhage in newborn infants].	false
+b47d742e0e6c3566a0de451de5ee70c3683fd1c0	The Gd infusion showed enhancement in cysts with adjacent inflammatory reaction or @PHENOTYPICFEATURE$ and in cases with @DISEASE$ inflammation.	false
+a5dcf829ac91bb42c43248f9470cf4eca4959de5	@DISEASE$ hamartoma associated with @PHENOTYPICFEATURE$ should be kept in mind, even in adult cases.	false
+290b93fa693670518c830e2c1dc2e0eb724a6649	Otitic hydrocephalus @DISEASE$ @PHENOTYPICFEATURE$; case report.	false
+fc84be6090d799d6b6c8ca48d42f6c34e8afd0fa	There were hyperaemia, edematisation, and blood leakage in the lungs, perivascular and pericellular @PHENOTYPICFEATURE$ in the brain, and severe hyperaemia of the @DISEASE$ (pia mater) and thyroid gland.	false
+7c6027bd9a76975fbbc340129491b2784ec062fc	The principal cause of mortality was aspiration pneumonia, but myocardial degeneration and necrosis, renal tubular damage, gastritis, enteritis, and @DISEASE$ @PHENOTYPICFEATURE$ and hyperemia were also observed.	false
+4183d665df5c0d621db3ffdff3f785024ee5892d	Gross lesions included skin rash, lymphadenopathy, splenomegaly, @DISEASE$ @PHENOTYPICFEATURE$, hydropericardium and enlarged friable livers.	false
+7cf7038d280fcf0856e398721f2185d13618f689	1293 genetic events were identified, involving potentially avoidable cases of Down's syndrome, @PHENOTYPICFEATURE$, cystic fibrosis, beta thalassaemia major and late onset medullary carcinoma of the thyroid (@DISEASE$).	false
+40050f42810b352ffb57b4f0760391106c32b4c0	She showed hypotricosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+efe98ce3ed5fd970ba6df9c0d23bddd0c66b0690	@DISEASE$ as the sole clinical sign of the @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip (EEC) syndrome.	false
+f0ea4f985fc0dd1acf08de6c53fa2889cbbe24d7	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or @DISEASE$, hypotrichosis, @PHENOTYPICFEATURE$, and specific facial appearance.	false
+9169cda9ca4b8b2af862de73ce8d3656fe016aa2	Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or @DISEASE$, @PHENOTYPICFEATURE$, hypohidrosis, and specific facial appearance.	false
+fe8826d994de2f6a8cc2c292cf6731ee8a45e7f7	Early in life, affected boys present a typical appearance, with @PHENOTYPICFEATURE$ or atrichosis, hypohidrosis or anhidrosis, and hypodontia or @DISEASE$ with conical incisors.	false
+99d57f4140a440f5569fc34a2673649b68dbeea6	Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, @PHENOTYPICFEATURE$ or anhidrosis, and hypodontia or @DISEASE$ with conical incisors.	false
+d5239c09fb313f956aa8c93bb3bc2fa6e3135d1f	Early in life, affected boys present a typical appearance, with hypotrichosis or atrichosis, hypohidrosis or @PHENOTYPICFEATURE$, and hypodontia or @DISEASE$ with conical incisors.	false
+143c0ac6e010849848be88e278f2d423da4684f8	Ectodermal dysplasias (ED) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures, such as hypohidrosis, @PHENOTYPICFEATURE$, onychodysplasia and hypodontia or @DISEASE$.	false
+08c85cb478de50c93bca728ea5ca66d7d3098a5a	All patients had facial dysmorphy, @PHENOTYPICFEATURE$ and hypo/@DISEASE$ (respectively 8/10 and 2/10).	false
+8ae4279204d1b676dc07a9952ca88f76860096af	Congenital @PHENOTYPICFEATURE$ with @DISEASE$ in cattle: a genetic, clinical and histological analysis.	false
+25294119a0a4a3a7bd03223b3e7e36be65599baf	It is characterized by classical triad of hypotrichosis, @PHENOTYPICFEATURE$/hypohidrosis, and hypodontia/@DISEASE$. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+009cdf304b110d9f8574ae214d5b3933484be009	It is characterized by classical triad of hypotrichosis, anhidrosis/@PHENOTYPICFEATURE$, and hypodontia/@DISEASE$. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.	false
+b457bf0b76a845548c3db45fb055803fcf373429	This study anhidrotic ectodermal dysplasia in quadruplets, allows the authors to recall the principal signs of this affliction, which are anhidrosis, or hypohidrosis, @PHENOTYPICFEATURE$ and @DISEASE$ or hypodontia.	false
+8b53988d40c9703372b4f932085db1d7084f5fc4	Depending on the variety, @PHENOTYPICFEATURE$, hypotrichosis, hypodontia, oligodontia, and/or @DISEASE$ may be exhibited.	false
+4389822c17f1a6a83cbb9a2cf6af80ff4413a6ee	Depending on the variety, hypohidrosis, @PHENOTYPICFEATURE$, hypodontia, oligodontia, and/or @DISEASE$ may be exhibited.	false
+1d19cafcfcfeee1860f2fe6c03746ce306add42a	The covariates included in the final model were creatinine clearance for the relative fraction of @DISEASE$ converted into colistin and the presence of @PHENOTYPICFEATURE$ for the turnover rate constant of CMS converted into colistin.	false
+c88d2c3db2bb24289c7f4f901223dd175c34555e	The covariates included in the final model were creatinine clearance for the relative fraction of CMS converted into colistin and the presence of @PHENOTYPICFEATURE$ for the turnover rate constant of @DISEASE$ converted into colistin.	false
+82726c1c33a5f30827b07745836b5820e9513580	Preoperative MR images showed no differences in tumor size, hydrocephalus, or peritumoral @PHENOTYPICFEATURE$ in patients with and without @DISEASE$.	false
+db569b887b7a2986f0cb0bc5ff97407eb1bb1b31	Patients who met the following criteria were excluded from this study: (1) under 65 years of age; (2) residence outside of the 50 United States or the District of Columbia; (3) no Part-B coverage or with HMO coverage that was not processed by Centers for Medicare & Medicaid Services (@DISEASE$); (4) concomitant diagnosis of diabetic @PHENOTYPICFEATURE$ (ICD-9: 362.07) or central retinal vein occlusion (ICD-9: 362.35); and (5) received both or none of the above two treatments.	false
+0d286bbfaef973a7542961931b04a648ec69d10f	We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) mutation type @DISEASE$ who has global developmental delay, @PHENOTYPICFEATURE$ and respiratory failure.	false
+984de96d709f2032c503c2ce938271499ef56676	We have reviewed the literature regarding COLQ-type @DISEASE$ and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with @PHENOTYPICFEATURE$.	false
+7b3d9093621520d5187763e42c63aa7e9ecd09b6	This study points to new specific hallmarks for this CMS.-Sigoillot, S. M., Bourgeois, F., Karmouch, J., Molg?, J., Dobbertin, A., Chevalier, C., Houlgatte, R., L?ger, J., Legay, C. Neuromuscular junction immaturity and @PHENOTYPICFEATURE$ are hallmarks of the ColQ-deficient mouse, a model of @DISEASE$ with acetylcholinesterase deficiency.	false
+f557bdbd11bb896ffeb5a9c9e37d8e37a28b668e	Neuromuscular junction immaturity and @PHENOTYPICFEATURE$ are hallmarks of the ColQ-deficient mouse, a model of @DISEASE$ with acetylcholinesterase deficiency.	false
+4af18b3de2d78f9d0d41dd170a02faa06b0797ba	Images obtained immediately postoperatively showed cerebellar edema in 92% of all patients; there were trends for more middle and superior cerebellar peduncle @PHENOTYPICFEATURE$ in patients with @DISEASE$ (p = 0.05 and 0.07, respectively).	false
+02f438daeaf6d22315e004f723877bd5bf530a63	In those patients with severe @DISEASE$, three showed signs of generalized weakness, including @PHENOTYPICFEATURE$, frequent apneas, and aspirations.	false
+59224713876e0792deec23a4f22edd220319f1e5	In an effort to reduce the incidence and severity of @DISEASE$ in our population, our institution adopted surgical practices that minimize tissue trauma and mitigate postoperative @PHENOTYPICFEATURE$.	false
+215958df2f1203e61ebbc423b4567d6c6dd56c56	Joubert syndrome (JS) is an autosomal recessive @DISEASE$ characterized by hypotonia, ataxia, @PHENOTYPICFEATURE$, and intellectual disability.	false
+558287631cd38465cf108fe9aa0f15f9883480cc	This disease mechanism of reduced expression for a syndromic @DISEASE$ gene causing isolated @PHENOTYPICFEATURE$ is reminiscent of CEP290 intronic mutations that cause Leber congenital amaurosis, and we speculate that reduced dosage of correctly spliced ciliopathy genes may be a common disease mechanism in retinal degenerations.	false
+f7c27ed4a3268b83aab682ff0f786b357409a882	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive @DISEASE$ characterised by @PHENOTYPICFEATURE$, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism.	false
+8816d1035d4deabf3adefe4d3b6c0c4938740f60	Joubert syndrome (JBTS) is an inherited @DISEASE$ giving rise to NPHP with cerebellar vermis aplasia and @PHENOTYPICFEATURE$.	false
+00a64ad14ed9eb47c0705d86242c3c7303b7d9da	In our search for novel ciliopathy-linked genes through the study of unmapped ciliopathy phenotypes, we have identified two simplex cases with a severe @DISEASE$ phenotype consistent with oro-facio-digital syndrome type IX featuring midline cleft, microcephaly, and colobomatous microphathalmia/@PHENOTYPICFEATURE$.	false
+53baee659bb46dc90ab00324a4136a0c688e26b0	When polyhydramnios is observed, additional fetal findings such as overlapping fingers, @PHENOTYPICFEATURE$, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest @DISEASE$.	false
+2a36e46c82c13cd1066734a83389bfaae155ab7a	@DISEASE$ were identified and quantified, inflammatory activity was assessed using @PHENOTYPICFEATURE$ imaging, DCE and DWI.	false
+a3a793870019a3948f8526b8401de0847753af92	The @DISEASE$ is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and @PHENOTYPICFEATURE$.	false
+bc42a60e6c953f1b08b26a15d5ba13c5dce4a0ec	Here, we report a male child with @DISEASE$ associated with intramyelinic @PHENOTYPICFEATURE$ detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face.	false
+c7adaac6d16c65e03bd9f9b6ab3fff7d26f0966f	Histological lesions - mesangial proliferation (MP), leukocyte permeation (LP), fibrinoid necrosis and crescents (FNC), interstitial infiltrate (II), segmental glomerular sclerosis (@DISEASE$), glomerular obsolescence (GO), tubular atrophy (TA) interstitial fibrosis (IF) and interstitial @PHENOTYPICFEATURE$ (IE) - were graded according to extension and severity as normal (0%), mild (<25%), moderate (>25% <50%), and severe (>50%).	false
+0906754fa2e724603b829f4731c2a544f49ac2aa	@DISEASE$ is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and @PHENOTYPICFEATURE$.	false
+2150c155637827958553cc42514c08308b174066	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, @DISEASE$, Huntington's disease, neuropathic @PHENOTYPICFEATURE$, and spinocerebellar ataxia.	false
+8a5c6eaa0b0b64a718f84b548c324d5c7a8db261	A 70 year old woman underwent an anterior rightsided temporal lobectomy for a mixed @DISEASE$-fibrosarcoma. Six months later, she presented with rightsided zygomatic and maxillary swellings, associated with rightsided @PHENOTYPICFEATURE$, chemosis, and nerve palsies of the III, IV, VI, and VII cranial nerves.	false
+7d28fdaf2a25c37c3e1cc5d51ba4c547cdb57099	In the clonogenic assay, anti- cancer activity of AMT was most active in cervical and uterine tumours, in colon cancer, @DISEASE$, @PHENOTYPICFEATURE$, melanoma and pancreatic cancer.	false
+1f45d1a9d6650a4626fceb536221684a6e033fbc	In a whole transcriptome analysis of BS149 @DISEASE$ cells overexpressing the teneurin-1 ICD, several @PHENOTYPICFEATURE$-associated transcription factor (MITF) target genes were found to be up-regulated.	false
+477fbb0f431f21182e7cc1149597f54ef168c5fd	In this study, we proposed a strategy, which combined the statistical algorithm with the gene-pathway bipartite networks, to generate the reliable lists of cancer-related DEGs and constructed the models by using support vector machine for predicting the prognosis of three types of cancers, namely, breast cancer, acute myeloma @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d77bc3570df9748cb10dca7897113d3df611a4da	The aim of the study was in vitro characterization of the anticancer activity of betulin in a range of human tumour cell lines (neuroblastoma, rhabdomyosarcoma-medulloblastoma, glioma, thyroid, breast, lung and colon carcinoma, @PHENOTYPICFEATURE$ and multiple myeloma), and in primary tumour cultures isolated from patients (ovarian carcinoma, cervical carcinoma and @DISEASE$).	false
+0625885f54b9337d17efaa31dc51fc162efd79f3	Clinical features, including learning @PHENOTYPICFEATURE$, seizures and amelogenesis imperfecta, initially suggested a diagnosis of @DISEASE$.	false
+fe8f5f538756115f493ea836a9333da9aafe3b5d	Chitayat-@DISEASE$, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and @PHENOTYPICFEATURE$, in particular growth hormone deficiency.	false
+ccfc9a93a7d1a006be7538395d2d2708f9cd08c4	We report a male 20-day-old baby with @DISEASE$ (CDH), horseshoe kidney, butterfly vertebra, @PHENOTYPICFEATURE$, distal finger hypoplasia, left inguinal hernia, typical facial appearance for Fryns syndrome, and cecal duplication cyst.	false
+9d596551ad7cdf87382e62f5d5c76cf0e83f308a	We report a male 20-day-old baby with @DISEASE$ (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left @PHENOTYPICFEATURE$, typical facial appearance for Fryns syndrome, and cecal duplication cyst.	false
+4c42aeb60673f18eae1575e87db6567f55b656c6	Fryns syndrome is a lethal autosomal recessive syndrome which includes @DISEASE$ (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a @PHENOTYPICFEATURE$ / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies.	false
+edf477979f2139f60cedeb029e2def9d7816cb91	As expected, mean LW/BW of infants with @DISEASE$ or severe @PHENOTYPICFEATURE$ was <1.5% (0.98% and 1.40%, respectively).	false
+0dde786ab683d382757dd6b491c2aebdb4905e34	Effects of extracardiac conditions on the cardiac function such as volume overload (in the recipient in twin-twin transfusion syndrome), a hyperdynamic circulation (arterio-venous malformation), cardiac compression (@DISEASE$, lung @PHENOTYPICFEATURE$) and increased placental resistance (intrauterine growth restriction and placental insufficiency) can be studied by ultrasound and may guide decisions for intervention or delivery.	false
+37e6f55490dd42a49e208f4b8fbb456bc2fd346e	A microdeletion of 2.6 Mb on distal 4p associated with @DISEASE$ and multiple congenital malformations (i.e., @PHENOTYPICFEATURE$) is reported for the first time.	false
+643d39ed915239f9a0ceda73ad56c664a8f41c2f	In humans, recessive mutations in FREM1 cause eye defects, @DISEASE$, @PHENOTYPICFEATURE$ and anorectal malformations including anteriorly placed anus.	false
+b87edc2745542340dae5ffb52d240d625d6fac11	A newborn female infant born to a woman on immunosuppressive medications including mycophenolate mofetil (MMF) for a renal graft secondary to lupus nephritis presented with @DISEASE$ (CDH) and additional findings of microtia, esophageal atresia with tracheoesophageal fistula, @PHENOTYPICFEATURE$, congenital heart defect, digital anomalies, and dysmorphic facial features.	false
+53cbb8f8049fff8665651daf097ccb487c56a7ce	An individual preoperative severity scale was established for AHASIT patients, with one point for each of the following preoperative complications: prematurity, low body weight, cyanosis, intolerance to drug therapy, failed interventional treatment prior to admission, mechanical ventilation prior to the procedure, chronic respiratory failure and non-cardiac, mainly congenital malformations (@DISEASE$, lower extremity agenesia, duodenal atresia) and acquired problems (newborn edema, necrotic enterocolitis, intracranial hemorrhage, liver and @PHENOTYPICFEATURE$, anemia and thrombocytopenia, infections or colonization with drug-resistant pathogens).	false
+cdb12ba11757cb8123daa53d33b6a30d698c2550	Apert syndrome can be associated with congenital left @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c652b6218a0a2469ade093dfbecfd76c1635a49c	Mutations in TRPS1 cause @DISEASE$ and III, which are characterized by sparse scalp hair in addition to craniofacial and @PHENOTYPICFEATURE$.	false
+4e818d67cb71b2f510dfda681e287d5e31d4a348	@DISEASE$ (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and @PHENOTYPICFEATURE$.	false
+b6633d5c68d87402f99353d21a4b955f26fd3edb	@DISEASE$: a defect in the urocanase activity in the liver of a @PHENOTYPICFEATURE$.	false
+74656be48ffb162f816b07fc9693c7d4a3e00847	Meat allergy associated symptoms as reported by the patients ranged from contact @PHENOTYPICFEATURE$ of the oral mucosa (oral allergy syndrome, @DISEASE$) to anaphylactic reactions.	false
+7ffdb44136a270410a68246654d9edfd9aa7cb4c	The main clinical manifestation of pollen-related food allergy is the oral allergy syndrome (@DISEASE$), a contact @PHENOTYPICFEATURE$ of the oral mucosa.	false
+6d0b6162221c1993921f28439d94e4b6d4948d0c	In three of the four cases reported here, the diagnoses were @PHENOTYPICFEATURE$ of the tuber cinereum; lobar holoprosencephaly; and @DISEASE$ type I, grade 2. In the fourth, radiographic investigation gave a normal result; a genetic etiology was suggested because of bilateral familial idiopathic epilepsy.	false
+2e06e7566ab5c6e7c0a2baebec47e4395daac40c	Verheij syndrome, also called @DISEASE$, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	false
+dc595b51c67467b6ade91e0748c778fe305fdd6c	@DISEASE$, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features.	false
+48e65173d89ed3a59db26499b3d318ffb5c0135f	Jaccoud's arthropathy (JA) is a chronic, non erosive, rheumatoid-like deformity associated with rheumatic fever (RF) and systemic lupus erythematosus and with other diseases such as psoriatic arthritis, connective tissue diseases, @DISEASE$, infections, sarcoidosis and @PHENOTYPICFEATURE$.	false
+a563052dca0a0081baf5318cb5355ebe7b0493fb	Quantification of @PHENOTYPICFEATURE$ in patients with myotonic dystrophy and @DISEASE$: a controlled 3-dimensional magnetic resonance imaging study.	false
+07eb065f2316a2f22e29564a5ff20bd2c9a6a8a4	Myotonic dystrophy type 2/@DISEASE$ (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, myotonia and musculoskeletal @PHENOTYPICFEATURE$.	false
+a63052cca18bfbfbcb8e05b59cd2fbed1799e7d4	@DISEASE$/proximal myotonic myopathy (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, myotonia and musculoskeletal @PHENOTYPICFEATURE$.	false
+4fca1e3f4b71bd36ae7bfe84ce97647d4e82d007	Congenital @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+cfae5c9071a60e79d64ab040c7d251fbeb9ccdf8	@DISEASE$ with loose anagen hair (NS/LAH; OMIM 607721) is a developmental disorder clinically related to Noonan syndrome (NS) and characterized by @PHENOTYPICFEATURE$, postnatal growth retardation, cardiac anomalies (in particular dysplasia of the mitral valve and septal defects), variable neurocognitive impairment, and florid ectodermal features.	false
+718348faf951c292a3af9da2243e9965d618a5d6	Coronal craniosynostosis, hypertelorism, @DISEASE$, broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations.	false
+394d80566e11af80b554190ab4af0b42e377a22b	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, @DISEASE$, a broad grooved nasal tip, @PHENOTYPICFEATURE$, mild syndactyly, and broad thumbs.	false
+2d99cfe1c28535237aa6a0834064c41b504bf2d3	Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, @DISEASE$, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, @PHENOTYPICFEATURE$, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.	false
+70bf3a9c50075b8db0f5cec4a2b35a1d80604a4c	Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe @PHENOTYPICFEATURE$; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, @DISEASE$, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge.	false
+a0b94b7a01d7eee38782ce9a645c31b02c43f9fc	Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, @DISEASE$, micropenis with cryptorchidism, @PHENOTYPICFEATURE$, stenosis of the colon, and a cleft alveolar ridge.	false
+96171336bc023bd5ae1896fe67c46c0f40dcf2ed	In addition, she had @PHENOTYPICFEATURE$, hypertelorism with @DISEASE$, infraorbital skin furrows, ear-lobe grooves, prominent maxilla and teeth, large carp mouth, short fifth fingers with limited flexion, generalized hypotonicity, and severe psychomotor retardation.	false
+cb899547310f33d49de1896f53d0b21ab97c6b85	Duchenne muscular dystrophy (@DISEASE$) is a neuromuscular disease characterized by a progressive skeletal @PHENOTYPICFEATURE$.	false
+bac2a6feafdda68a2d49c5798d431aeaf5229494	@DISEASE$ (DMD) is a neuromuscular disease characterized by a progressive skeletal @PHENOTYPICFEATURE$.	false
+37c65daceb685abf08b4a99565da73dcbec6fcb9	The fatal X-linked Duchenne muscular dystrophy (DMD), characterized by progressive muscle wasting and @PHENOTYPICFEATURE$, is caused by mutations within the @DISEASE$ gene.	false
+b605e8d5d697ca51f3b376dce6bf1a7e99357e47	The fatal X-linked @DISEASE$ (DMD), characterized by progressive muscle wasting and @PHENOTYPICFEATURE$, is caused by mutations within the DMD gene.	false
+80c283cba58da9e7cf1a40564f99f78f0631f850	The fatal X-linked Duchenne muscular dystrophy (@DISEASE$), characterized by progressive muscle wasting and @PHENOTYPICFEATURE$, is caused by mutations within the DMD gene.	false
+3e58741335bd425ddd2680ffdf50279f93ab4ba7	In one @DISEASE$ subject in @PHENOTYPICFEATURE$, cystatin C was elevated.	false
+15becc01e00a0165d00b01e3760002104f45c368	The @PHENOTYPICFEATURE$ was observed in one @DISEASE$, one LG and seven MyD.	false
+a9056456309744cdcbdc9dcc79c06c2425ac1d93	Antifilamin and antivinculin antibody activities are significantly higher in MG patients compared with normal controls and patients with @DISEASE$ (DMD), Parkinson's disease, and @PHENOTYPICFEATURE$.	false
+fcb9a75e624d7969ca1dc802b410ac883db85d7b	Antifilamin and antivinculin antibody activities are significantly higher in MG patients compared with normal controls and patients with Duchenne muscular dystrophy (@DISEASE$), Parkinson's disease, and @PHENOTYPICFEATURE$.	false
+3dcffa8e8d1012ece450f4b25f74d69994bbc282	'Double trouble': diagnostic challenges in @DISEASE$ in patients with an additional hereditary @PHENOTYPICFEATURE$.	false
+49f488809891e7e410865842b2b295fc24322ba5	In addition to @PHENOTYPICFEATURE$, one-third of patients suffering from @DISEASE$ exhibit mental retardation.	false
+05bc46f2211e83ea6ad6ea7f0caa4c57ad74ab87	Duchenne muscular dystrophy (@DISEASE$) is characterized by variable alterations of the dystrophin gene and by @PHENOTYPICFEATURE$ and cognitive impairment.	false
+407a8a50ee1b640fec9fb36850fd79b850e5e0ae	@DISEASE$ (DMD) is characterized by variable alterations of the dystrophin gene and by @PHENOTYPICFEATURE$ and cognitive impairment.	false
+64a58421057ed77d8a6777e757936722d7665cae	Duchenne muscular dystrophy (@DISEASE$) is an X-linked genetic disorder that causes progressive skeletal and cardiac @PHENOTYPICFEATURE$ in boys.	false
+17d76f59dbde424b3aabeccefa39710381a8ff34	@DISEASE$ (DMD) is an X-linked genetic disorder that causes progressive skeletal and cardiac @PHENOTYPICFEATURE$ in boys.	false
+9a14479dec5ea34817b5e523137c20e716e9d97f	Duchenne muscular dystrophy (@DISEASE$), an X-linked disorder due to lack of dystrophin, is associated with @PHENOTYPICFEATURE$ and myocardial dysfunction.	false
+c80a3eccc058f014958d9646cd8155293ca27469	@DISEASE$ (DMD), an X-linked disorder due to lack of dystrophin, is associated with @PHENOTYPICFEATURE$ and myocardial dysfunction.	false
+bb83604e8869597ca08e727d32e0adb19f3ff769	@DISEASE$ prevented @PHENOTYPICFEATURE$-associated cardiac steatosis and insulin resistance, and reduced NADPH oxidase-dependent ROS production.	false
+eecb823e29b6e751514a21f046afe9fb8291c640	Even though our patient had type I @DISEASE$, BMIPP was uptaken by the myocardium during @PHENOTYPICFEATURE$, suggesting a variant pathway on the human myocardial membrane for LCFA uptake.	false
+ae819d31e421b88623c55061a5beb56990465e71	We report a case of @DISEASE$ initially diagnosed as Proteus syndrome, revealed by infection of a dorsal lipomatous @PHENOTYPICFEATURE$.	false
+5cc15ebee79b3cc7918f4bb9ed56f43d0c6583f3	Imaging of the dorsal lipomatous @PHENOTYPICFEATURE$ associated with capillary as well as underlying venous-lymphatic malformations and syringomyelia resulted in subsequent correction of the earlier diagnosis of Proteus syndrome to that of @DISEASE$.	false
+238a84bcf515565a6f505bbb85cf192b3be14106	@DISEASE$ (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal nevi, Skeletal anomalies) is a sporadic malformational syndrome that has recently been described (mutation of PIK3CA), with asymmetric body hypertrophy, lipomatous @PHENOTYPICFEATURE$ of the trunk and numerous malformations.	false
+ee60ee95398b482494784337808470d1a397c299	Our case underlines the importance of considering a diagnosis of @DISEASE$ in the presence of lipomatous hamartoma with hemi-hypertrophy and epidermal @PHENOTYPICFEATURE$, in order to enable adequate follow-up with specific monitoring for the possible complications associated with this disease.	false
+53016b1a9fc1af0da230fcb3758adcec97269821	Our case underlines the importance of considering a diagnosis of @DISEASE$ in the presence of lipomatous @PHENOTYPICFEATURE$ with hemi-hypertrophy and epidermal hamartoma, in order to enable adequate follow-up with specific monitoring for the possible complications associated with this disease.	false
+3cec021dde461f24cfc3fb0fd50afe2ccca449e1	In particular, myotonic dystrophy (Curschmann-Steinert syndrome), also characterized by the presence of ptosis and a pathognomic star-shaped @PHENOTYPICFEATURE$, should be taken into account since a @DISEASE$ could be observed, resulting in a visual impairment of various degrees.	false
+2bc07802e1bb8df3171481607561765dde362af0	In particular, myotonic dystrophy (Curschmann-Steinert syndrome), also characterized by the presence of @PHENOTYPICFEATURE$ and a pathognomic star-shaped cataract, should be taken into account since a @DISEASE$ could be observed, resulting in a visual impairment of various degrees.	false
+27a4a054b1c9cccd800f05fe93fd75e3fa790b11	Timothy syndrome (TS) is a @DISEASE$ that is associated with @PHENOTYPICFEATURE$ and mutations in CACNA1C, encoding an L-type voltage-dependent calcium channel, Cav1.2.	false
+1cbea4c52763ad58ba99a6a7e8d0cb6d5e21e419	Other anomalies were vertically oval corneas, high mixed astigmatism, amblyopia, horizontal nystagmus, microcephaly, maxillary hypoplasia, @PHENOTYPICFEATURE$, low set large ears, and @DISEASE$.	false
+ca07cd80f120ba04556743337b494cadeb16a3be	The likelihood of detecting a molecular genetic diagnosis was highest for patients with urinary stone disease (three out of three individuals), followed by @PHENOTYPICFEATURE$ ciliopathies (seven out of nine individuals), steroid-resistant nephrotic syndrome (nine out of 21 individuals), @DISEASE$ (ten out of 55 individuals), and chronic glomerulonephritis (one out of seven individuals).	false
+8ee4cc6a67a5d74f6a5d0b544560cd1d83c0a269	The objective of this article is to investigate whether sonographic identification of the fetal anal mucosa (AM) can assist in the diagnosis of @PHENOTYPICFEATURE$ (AA) in fetuses referred for @DISEASE$ (CAKUT) malformation.	false
+aa0f471b94e9b07a5f7fb139c99021d78cf8af9f	In the USA the most common diagnostic groups of renal disease that manifest before the age of 25 years are @DISEASE$, steroid-resistant nephrotic syndrome, chronic glomerulonephritis and @PHENOTYPICFEATURE$ ciliopathies, which together encompass >70% of early-onset CKD diagnoses.	false
+da8184c047b9a7074ae9ccae25a69f34d7eca6a6	In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, @PHENOTYPICFEATURE$, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of @DISEASE$ (CAKUT).	false
+4c3fdf11e4ab98ce568918fda4e9a875d232cd42	@PHENOTYPICFEATURE$ was firstly diagnosed during adolescence, followed in adulthood by a diagnosis of @DISEASE$, a rheumatologic disorder characterized by corneal and inner ear inflammation.	false
+486683bf4dedae26d2a2f6e354dc56d68e4895b6	Etiology included @PHENOTYPICFEATURE$ with/without glioneuronal tumor in 19 patients (83%), sole glioneuronal tumor in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+36c9a6079173d37465ba17865edc41c8128d8e4d	[Autopsy case of @DISEASE$ accompanied by @PHENOTYPICFEATURE$ and systemic angiomyolipoma].	false
+7e479bb4cad4beb8ca9d6a17a861d1b74befce45	Two cases of @DISEASE$ with different neurological fenotype, with bilateral renal angiomyolipomatosis and heavy @PHENOTYPICFEATURE$, are presented.	false
+1b232409a88b38f149d0c263d2b5ef76b1b37a13	A patient with @DISEASE$ presented with @PHENOTYPICFEATURE$ secondary to bilateral angiomyolipoma.	false
+a34505c63d313921b79a9b6f4dd6b7cf12c6eda2	[Infantil @PHENOTYPICFEATURE$ hypsarrhythmia encephalopathy and @DISEASE$].	false
+82b6187a86c37a6460987425277025a2af507a80	The risk of @PHENOTYPICFEATURE$ in patients with @DISEASE$ in the UK has not been defined.	false
+b21d455c4a82dc2426d1481088bf23ce8bd6a565	The second successful kidney transplant in a patient with @DISEASE$ and @PHENOTYPICFEATURE$ is reported.	false
+70e5f6d4b7aad3d8b0284f1fb3e98fde06a9ce79	Hypertension and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+addc80c77475bd5501c53f6028bd288da7c05c07	Renal cysts are relatively common in @DISEASE$, occasionally causing severe cystic disease with @PHENOTYPICFEATURE$.	false
+6ee8d9516dbddf488b089559228fa78351199bfd	Polycystic kidney disease, renal carcinoma and @PHENOTYPICFEATURE$, although rare, occur in @DISEASE$.	false
+bfdd862bedc5d3a1ba480ea925654989e87c6df1	The authors present a novel case of a hemangioblastoma of the optic nerve producing bilateral optic tract @PHENOTYPICFEATURE$ in a patient with @DISEASE$ (VHL).	false
+54a847117a8b4cad58e7efeaa902627ebe655ea9	The authors present a novel case of a hemangioblastoma of the optic nerve producing bilateral optic tract @PHENOTYPICFEATURE$ in a patient with von Hippel-Lindau disease (@DISEASE$).	false
+4542b52227a29c9205053d1025dedec0af90872c	Retinal capillary hemangiomas are the most common manifestation of @DISEASE$ disease, which can occur in the optic nerve, where it may simulate disc @PHENOTYPICFEATURE$, or in the retinal periphery, which is characterized by massive retinal exudation.	false
+f3b13cefc66e439c4a8f87fac80c479a7316c29c	Symptoms and signs caused by cerebellar hemangioblastomas in @DISEASE$ disease are associated with @PHENOTYPICFEATURE$ and peritumoral cyst formation/propagation and are treated safely and effectively with resection.	false
+a82a0d9ff18e43473cc38af1f15f3533bd35fdca	The authors report a case of NPE occurring in a patient with @DISEASE$ and a dorsal medullary syrinx with postoperative dorsal medullary @PHENOTYPICFEATURE$.	false
+b8a833785b1ef4382a55dff2f7149bfdb2e5abba	The observed constellation of @PHENOTYPICFEATURE$, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a @DISEASE$ mutation A451G in a patient with negative family history has not previously been described in the literature.	false
+0e97fe724e4532e4465d5ebf6d29b4397fe1f06e	Moreover, @DISEASE$ deletion status was associated with presence/absence of peritumoral @PHENOTYPICFEATURE$.	false
+a9423ea69f52dcf64c3b388e2cda3d260be1db5e	Hemangioblastoma of the optic nerve producing bilateral optic tract @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+6e7e9e83ba6b41427dcc29b2c75c86ee5e67553d	These benign tumors occur frequently in patients with @DISEASE$ disease and produce symptoms by mass effect either by the tumor itself or an accompanying cyst or @PHENOTYPICFEATURE$.	false
+1b6125a9c912bf53995d8eff0e814e8f4f467145	@PHENOTYPICFEATURE$ are common in @DISEASE$.	false
+1945db8be8db099f78b1c0ab5958cc3eae84104d	@PHENOTYPICFEATURE$ and @DISEASE$ (SCD) impair endothelium-dependent vasodilation by dissimilar mechanisms.	false
+67fa96810260793edc46aed4a4dd9bf1752ca43b	@DISEASE$ (SCD) is characterised by abnormal @PHENOTYPICFEATURE$ and angiogenesis although their relationships in two common genotypes, homozygous (HbSS) SCD and sickle-haemoglobin C disease (HbSC), are unexplored.	false
+e9014d52bc28640748b1b64a4874115a99290307	The @DISEASE$ is an infrequently described malformation syndrome, mainly characterized by a profound mental deficiency, a typical face including a midface hypoplasia, @PHENOTYPICFEATURE$, and minor radiographic features.	false
+f7c588580c5bda168f0bceed427a97f479a35ca5	Schinzel-Giedion syndrome (@DISEASE$) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial @PHENOTYPICFEATURE$.	false
+bc53c6653fe5012937dc3e78cbdfe637b4e454b7	@DISEASE$ (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial @PHENOTYPICFEATURE$.	false
+7ca9846a348de1e65a45952b97d7dc2b24a45c94	@DISEASE$ (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and @PHENOTYPICFEATURE$ of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity.	false
+35e4b1a0e425f9b734afe87dfeae3ee5c30a6bf6	In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides and subacute cutaneous lupus erythematosus), papulosquamous/papulokeratotic dermatoses (lichen planus, pityriasis rosea, papulosquamous sarcoidosis, guttate psoriasis, pityriasis lichenoides chronica, classical pityriasis rubra pilaris, porokeratosis, lymphomatoid papulosis, papulosquamous chronic GVHD, parakeratosis variegata, Grover disease, Darier disease and BRAF-inhibitor-induced acantholytic dyskeratosis), facial inflammatory skin diseases (rosacea, seborrheic dermatitis, discoid lupus erythematosus, sarcoidosis, cutaneous leishmaniasis, lupus vulgaris, granuloma faciale and demodicidosis), acquired keratodermas (chronic hand eczema, palmar psoriasis, keratoderma due to mycosis fungoides, keratoderma resulting from pityriasis rubra pilaris, tinea manuum, palmar lichen planus and aquagenic palmar keratoderma), sclero-atrophic dermatoses (necrobiosis lipoidica, morphea and cutaneous lichen sclerosus), @PHENOTYPICFEATURE$ macular diseases (extragenital guttate lichen sclerosus, achromic pityriasis versicolor, guttate vitiligo, idiopathic guttate hypomelanosis, progressive macular hypomelanosis and postinflammatory hypopigmentations), hyperpigmented maculopapular diseases (pityriasis versicolor, lichen planus pigmentosus, Gougerot-Carteaud syndrome, @DISEASE$, erythema ab igne, macular amyloidosis, lichen amyloidosus, friction melanosis, terra firma-forme dermatosis, urticaria pigmentosa and telangiectasia macularis eruptiva perstans), itchy papulonodular dermatoses (hypertrophic lichen planus, prurigo nodularis, nodular scabies and acquired perforating dermatosis), erythrodermas (due to psoriasis, atopic dermatitis, mycosis fungoides, pityriasis rubra pilaris and scabies), noninfectious balanitis (Zoon's plasma cell balanitis, psoriatic balanitis, seborrheic dermatitis and non-specific balanitis) and erythroplasia of Queyrat, inflammatory cicatricial alopecias (scalp discoid lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia and folliculitis decalvans), nonscarring alopecias (alopecia areata, trichotillomania, androgenetic alopecia and telogen effluvium) and scaling disorders of the scalp (tinea capitis, scalp psoriasis, seborrheic dermatitis and pityriasis amiantacea).	false
+901d46b2d24903430da4fa395ceb4f22ad4a260d	Generalized @DISEASE$ with @PHENOTYPICFEATURE$ lesions: A diagnostic challenge.	false
+905a78a36ae2a943abff27187ac44a8aca26ac4e	with @DISEASE$ and severe @PHENOTYPICFEATURE$ in a double blind, dose-response trial.	false
+e352c516220989138af760abdef32df325e62e8b	Although permanent DM has not been reported in any of the rhGH trials in renal patients, it cannot be excluded that some patients with @DISEASE$ or after RTx may develop impaired glucose tolerance and/or permanent DM during long-term rhGH therapy, particularly those with risk factors such as familial type II DM and @PHENOTYPICFEATURE$.	false
+a9772f966998859046f772e240f15d301a8f44a4	Compared with patients with normal renal function, standard therapy for AMI including thrombolysis, aspirin, angiotensin-converting-enzyme inhibitors, beta-blockers and lipid lowering agents was underutilized in @DISEASE$ patients and these patients were more likely to have in-hospital complications such as heart failure, atrial or @PHENOTYPICFEATURE$, cardiogenic shock, sepsis, worsening of renal function and death within 30 days [odds ratio (OR) = 3.3; 95% confidence interval (CI) = 2.0-4.8].	false
+d1960ffea6c21334bf795415044ee1dec86f57bc	Compared with patients with normal renal function, standard therapy for AMI including thrombolysis, aspirin, angiotensin-converting-enzyme inhibitors, beta-blockers and lipid lowering agents was underutilized in @DISEASE$ patients and these patients were more likely to have in-hospital complications such as @PHENOTYPICFEATURE$, atrial or ventricular fibrillation, cardiogenic shock, sepsis, worsening of renal function and death within 30 days [odds ratio (OR) = 3.3; 95% confidence interval (CI) = 2.0-4.8].	false
+cc2ff45b59391fc39e046d5a6107e4291c98c62c	@DISEASE$ syndromes may be associated with @PHENOTYPICFEATURE$.	false
+fb78cbf8e7b9bbb4cd3c029dcb3d74dca8cc786a	Newly developed @PHENOTYPICFEATURE$ after @DISEASE$ occurred in 8 patients (2.0%), five of whom developed the seizures in relation to new brain lesions.	false
+989936421fea7a381464457b7ac76c6419c75249	Newly developed seizures after @DISEASE$ occurred in 8 patients (2.0%), five of whom developed the @PHENOTYPICFEATURE$ in relation to new brain lesions.	false
+8ef53ded164b9916fe0c0eec177d66c15e4b2135	: A critical review of the literature indicates that idiopathic opticochiasmatic @DISEASE$, once considered an important consideration in patients with otherwise unexplained @PHENOTYPICFEATURE$, is not a valid disease entity.	false
+4335e80c868126da6190574ba0ae90450947e374	Despite these treatment measures, some patients develop @PHENOTYPICFEATURE$, mainly as a result of progressive optochiasmatic @DISEASE$.	false
+f942b2c9b80ca3de9ef4aa78fb077c4a5de13054	[Effectiveness of the ultrasonic therapy of @PHENOTYPICFEATURE$ after optic chiasm @DISEASE$].	false
+00ba643cbd7a7c7d51510055ec15f07a772a3b12	Patients with @PHENOTYPICFEATURE$ at disease onset had a significantly higher probability of developing @DISEASE$ (p < 0.05).	false
+ec5217ce23129645aa4ece66e9f13c09ccb83091	[Jaundice, vomiting and @PHENOTYPICFEATURE$ (@DISEASE$): intussusception (with lipoid nephrosis)].	false
+c097dca3acea262ccb245c0663f0c3bbb60cc47a	Glutamyl ribose-5-phosphate storage disease: @DISEASE$ and @PHENOTYPICFEATURE$.	false
+db1b7999674df846f7a7fc54f7d9f314d283071a	@PHENOTYPICFEATURE$, arthritis, and @DISEASE$ in a Syrian patient.	false
+f7018163c3c5dc39d09535fccccfe9d1282371f1	A 62-year-old woman was admitted for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+592b3cad85b9c5ef97d15060538cfbf65d8fd6be	@DISEASE$, hyperreninemia and multiple transplant renal @PHENOTYPICFEATURE$ in a patient with diabetes.	false
+254e6eff341605d8bc4ee8fed86de45368eec3f0	Unusual course of @DISEASE$ associated with atypical @PHENOTYPICFEATURE$.	false
+8c2684fdd9ea426af49eee66e00e5cda28efbbaf	A 38-year-old man with @DISEASE$, episodic fever and @PHENOTYPICFEATURE$.	false
+142987735c05814caf70f590ef48864dce42ee7b	Steroid therapy induced a remission of the @DISEASE$, with no recurrence of the @PHENOTYPICFEATURE$.	false
+a008bdd4c6eb029cad16daecebe7234149cccc8b	[Urticaria, @PHENOTYPICFEATURE$, arthritis, pseudotumor cerebri and @DISEASE$ in a 20-year-old patient].	false
+f57538bbe8c20ab6b9321ba87b8ddb08941d1d21	No new cases of amblyopia developed after surgical repair of the @PHENOTYPICFEATURE$, suggesting early surgery for severe nonocclusive @DISEASE$ may decrease the incidence of amblyopia.	false
+bb542ce2b93dbdaa8603db69637dea941108afb9	The levator resection surgery was observed to be an effective treatment for @DISEASE$, including severe @PHENOTYPICFEATURE$ with poor LF.	false
+c3508c82b15214bbe2d06508b89ec7812a98da73	Levator aponeurosis disinsertion is an accepted etiologic factor in some acquired @PHENOTYPICFEATURE$ cases, but it has not previously been reported as a cause of @DISEASE$.	false
+3da4be19bfa5ed4fc034c8ec802f25d9034c17df	The mean height of the vertical palpebral fissure in patients with @DISEASE$ and aponeurotic @PHENOTYPICFEATURE$ were 6.5 mm (range 5-9 mm) and 6.1 mm (3-9 mm), respectively.	false
+b3563db64ce1f0fb2fac50b7488a53bb573234bb	@DISEASE$ is often associated with @PHENOTYPICFEATURE$.	false
+039d640d6baa70235c4595f3f54486713c3ecabc	Of these, 37 eyelids had acquired @PHENOTYPICFEATURE$ and 8 had @DISEASE$.	false
+44a08c888c0154ec686775f317264931f8c2667f	Thirty-three eyelids had acquired @PHENOTYPICFEATURE$ and 1 eyelid had @DISEASE$.	false
+8ebde14bd40e211a5fa6124706f43fcb5ccfedd9	We report a case of unilateral @DISEASE$ which is associated with ocular and systemic congenital malformations including mild @PHENOTYPICFEATURE$, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect.	false
+20b7cd5fc5d417b7e6e1e585207a71979483ed4d	We report a case of unilateral @DISEASE$ which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, @PHENOTYPICFEATURE$, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect.	false
+e7a581299b47b3badd67a5b8f22df8e9fbce9eaa	The most frequent malformations were congenital lacrimal duct obstruction (66.66%), congenital cataract (10.9%), congenital glaucoma (10.9%), @PHENOTYPICFEATURE$ (5.03%), and @DISEASE$ (3.77%).	false
+ffacb32090dad15f46ad013f039c19c8fe724f6f	The amount of @PHENOTYPICFEATURE$ was mild in 5 (6%), moderate in 26 (31%), and severe in 52 (63%) of 83 eyes with @DISEASE$.	false
+e2a191591fef28f541ef1f8cd4bfaf35d1e4ee6b	Prader Willi Syndrome (PWS) is characterized by typical appearance, obesity, short stature, hypothalamic @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, behavioural abnormalities and mental retardation.	false
+899ff6c88a8385b626270efef8f64aa8bd269d11	Standardized indications for laparoscopic urological surgery are benign nephrectomy, nephroureterectomy, @DISEASE$, adrenalectomy, @PHENOTYPICFEATURE$, lymphocele and bilateral or relapsing varicocele.	false
+6485284166b1827783ac92ede7a5475421cf3790	These 'red flags' comprise findings indicating lack of prior 'mini-puberty' (such as @DISEASE$ or micropenis), or the presence of non-reproductive congenital defects known to be associated with specific @PHENOTYPICFEATURE$ syndromes, e.g.	false
+09543934c33864596fe34f4abc796b4844665932	Some well-established risk factors prevail, such as @DISEASE$, familial association, @PHENOTYPICFEATURE$ (intersex) and germ cell tumor in the contralateral testis.	false
+609bd4a38d8aaf0c9b34b18e5ec52b30c11908d1	Postmortem examination confirmed prenatal findings and showed aniridia, low-set ears, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+88d61cc50f022fe84f168fcee6111cc638734300	Diagnostic laparoscopies were performed for the differential diagnosis of cholestasis, chronic @PHENOTYPICFEATURE$, intersex and @DISEASE$.	false
+176ced57bf9e2b4c63884ce94b3dbe264bec063e	Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with @DISEASE$, @PHENOTYPICFEATURE$, stenosis of the colon, and a cleft alveolar ridge.	false
+ae41febee2f093e4def20d86fe9d2008ccbf3f66	Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe @PHENOTYPICFEATURE$; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with @DISEASE$, renal cysts, stenosis of the colon, and a cleft alveolar ridge.	false
+3cced55f3d2ff385e5cda8725aa9ce283993fe98	Intra-tubular germ-cell neoplasia and gonadoblastoma, are pre-invasive lesions associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d48392b8bca55fc5fdb8ca2ccd0f330f57b6b894	In a consanguineous Jewish family originating from Bombay, India, the propositus presented with @PHENOTYPICFEATURE$, micropenis, urethral obstruction with secondary prune belly, omphalocele, patent urachus, and @DISEASE$.	false
+b2bc1c5af66508d128a47942179f8fe52ef186d1	This male infant had a lethal condition with features of large fontanelle, pachygyria with incomplete opercularization, varus @PHENOTYPICFEATURE$ and feet, small palpebral fissures, hypertelorism, a small penis, @DISEASE$, camptodactyly and a sandal gap deformity.	false
+87fed05609902d2541833bd6a380ef27a2c86b9d	@DISEASE$ (TGN) causes severe unilateral facial @PHENOTYPICFEATURE$.	false
+4f455d59d617b31c0cb3c1aa1a9245753ae1fa10	@DISEASE$ and persistent idiopathic facial @PHENOTYPICFEATURE$.	false
+9302a0e205287f0500287a0d5703540c89a11987	[@DISEASE$ and facial @PHENOTYPICFEATURE$].	false
+5d3dc4c459974dbaa26cae6eae8b67645da400ca	Classic @DISEASE$ (TN) causes severe facial @PHENOTYPICFEATURE$.	false
+50a474cbe516a467551001cabec0830f07fcd835	@DISEASE$: unilateral episodic facial @PHENOTYPICFEATURE$.	false
+f8337565dd7655ebcdfc26c4fa42383fdbd806c7	@DISEASE$ and atypical facial pain are common conditions of facial @PHENOTYPICFEATURE$.	false
+d10b29b349cc201997aa5fda23315c9af8b8e563	@DISEASE$ and atypical facial @PHENOTYPICFEATURE$ are common conditions of facial pain.	false
+f1485a56f4eb6c5588a9b421789a5efcd3b950ad	@DISEASE$ is the most common facial @PHENOTYPICFEATURE$.	false
+d122c7e98ec33f7deaf555d2082fd48677eb92f4	@DISEASE$ and facial @PHENOTYPICFEATURE$ imaging.	false
+1b3cc71f3b3df3a7c3f7aed68197252437206a82	@DISEASE$ mimicking odontogenic @PHENOTYPICFEATURE$.	false
+5ec172a6b30264934c601e49993d3a7d4d0256fa	@DISEASE$ or atypical facial @PHENOTYPICFEATURE$.	false
+0a5adcc71ec0927013a4038499afcfb74afa4cd5	Ulnar nerve @PHENOTYPICFEATURE$ or weakness and mild @DISEASE$ are frequently present.	false
+4834e2f02552e82ad839852e290055927d834787	Hyperostotic macrodactyly and lipofibromatous @PHENOTYPICFEATURE$ of the median nerve associated with @DISEASE$.	false
+5ea587f49de8f1c5847f83f3e4de861631b85f26	@DISEASE$ due to lipofibromatous @PHENOTYPICFEATURE$ of the median nerve.	false
+69dfc897ed151755efcd971de43076c987d4030b	Patients may also develop @DISEASE$, @PHENOTYPICFEATURE$, seizures or mental retardation.	false
+d1fa9f8bf846f0b8110b9addd6618554c61da900	One condition associated with @DISEASE$ is a lipofibromatous @PHENOTYPICFEATURE$.	false
+71cdd4528c27d6683992307fb7babb3bbacfb09c	@DISEASE$ due to fibrolipomatous @PHENOTYPICFEATURE$ of the median nerve in Klippel-Tr?naunay syndrome.	false
+7fcdfbecf593630eb9ef826bfa4b58578c5506b5	@DISEASE$ caused by a fibrolipomatous @PHENOTYPICFEATURE$ of the median nerve treated by endoscopic release of the carpal tunnel.	false
+207cc8c3af014ce9b6d2abcad2078aac5f51d5f8	@DISEASE$ due to fibrolipomatous @PHENOTYPICFEATURE$ of the median nerve.	false
+bc9fdb909040b2b4168a3cd04ef36840afb7b5b3	Lipofibromatous @PHENOTYPICFEATURE$ of the median nerve in patients with macrodactyly: diagnosis and treatment of a rare disease causing @DISEASE$.	false
+9ac8441eefb0792a39f2b65d57553640734eba7e	@PHENOTYPICFEATURE$-dominant and pain-dominant subgroups have been noted in @DISEASE$ (CTS), a peripheral neuropathic disorder characterized by altered primary somatosensory/motor (S1/M1) physiology.	false
+38beef756db9ceab498049ab8177cf5fcc762f6e	Family testing revealed the same variant in his father who also had muscle @PHENOTYPICFEATURE$ testing diagnostic for susceptibility to malignant hyperthermia and @DISEASE$ diagnosed histologically.	false
+0438d872861772a905dd4b55b10986b894c56746	We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrophy, Bethlem myopathy, congenital muscular dystrophy with joint hyperlaxity, multi-minicore disease, @DISEASE$, and limb girdle muscular dystrophy 2E with joint hyperlaxity and @PHENOTYPICFEATURE$.	false
+ced7b1ecd27f4a05ee3f190add3afdd6556e74b1	However, no new cases of adrenal insufficiency, @PHENOTYPICFEATURE$, or @DISEASE$ were found.	false
+7def1f3eab3085f405e256507f6f94799150ad9f	In a series of postmenopausal women previously studied by our group, @DISEASE$ was associated with @PHENOTYPICFEATURE$ of the spine and with vertebral fractures.	false
+73c0cacc248f28268875126b89fcb4c831e415f6	A 10-year-old girl with multiple endocrinopathies, @PHENOTYPICFEATURE$, and @DISEASE$ subsequently developed pure red cell aplasia, which responded only temporarily to cytotoxic therapy.	false
+370b9786ef9eee5937b284d7b7818f172c1c6ada	Some patients with @DISEASE$ who were intermittently treated with cyanocobalamin were found to have elevated serum levels of methylmalonic acid while free of hematologic and @PHENOTYPICFEATURE$.	false
+e569a35e0f61ba49dbc4833abbc91d5d640022b4	Familial @PHENOTYPICFEATURE$ with @DISEASE$, steatorrhea and adrenocortical insufficiency: a variant of mucoviscidosis.	false
+7012bd119ac470953693cab76243c1a07656a797	24 consecutive patients with refractory and symptomatic PN from diabetes, chronic inflammatory demyelinating polyneuropathy (CIDP), @DISEASE$, mercury poisoning, paraneoplastic syndrome, tarsal tunnel, and idiopathic @PHENOTYPICFEATURE$ were enrolled in this nonplacebo pilot study.	false
+348c9c4a20edee43857aaa1ac7f2f2ae362540c1	Because of the higher "analogue" levels, the assay done with R binder failed to register low cobalamin levels in 33 of 76 patients with low cobalamin levels and primarily neurologic abnormality (compared with only two of 19 with hematologic abnormality) and in 10 of 20 patients with @DISEASE$ who had @PHENOTYPICFEATURE$ (compared with only two of 12 without such abnormalities).	false
+2d363c216e605e92bf14bbec869d85573eaa52c2	Because of the higher "analogue" levels, the assay done with R binder failed to register low cobalamin levels in 33 of 76 patients with low cobalamin levels and primarily @PHENOTYPICFEATURE$ (compared with only two of 19 with hematologic abnormality) and in 10 of 20 patients with @DISEASE$ who had neurologic abnormalities (compared with only two of 12 without such abnormalities).	false
+58d1c184112f82f1d2e8eaa0f54de388f732433e	Some lesions and topics covered during the symposium include eosinophilic crystalline pneumonia in a transgenic mouse model; differentiating adrenal cortical cystic degeneration from adenoma; atypical eosinophilic foci of altered hepatocytes; differentiating cardiac @PHENOTYPICFEATURE$ from cardiomyopathy; diagnosis of cardiac papillary muscle lesions; intrahepatocytic erythrocytes and venous subendothelial hepatocytes; lesions in Rathke's cleft and pars distalis; @DISEASE$ and megaloblastic disorders; embryonic neuroepithelial dysplasia, holoprosencephaly and exencephaly; and INHAND nomenclature for select cardiovascular lesions.	false
+1a7cee2f4604c598573ebe154bef08267f3675bc	Associated autoimmune and endocrine abnormalities were common and included atrophic gastritis (67%), @DISEASE$ (58%), hypothyroidism (39%), diabetes (19%), Addison's disease (6%), and @PHENOTYPICFEATURE$ (6%).	false
+c4712c89289d0d8b7da3dd8fbec77d0b5cff988b	Some patients with @DISEASE$ who were intermittently treated with cyanocobalamin were found to have elevated serum levels of total homocysteine while they were free of hematologic and @PHENOTYPICFEATURE$.	false
+1b79e094c9b542ab59ef11e144f9e1686f87ec72	After adjustment for alcohol-related diseases, gallstone disease, @PHENOTYPICFEATURE$, hypercalcemia, and @DISEASE$, the odds ratio was slightly decreased to 0.5 (95% confidence interval, 0.1-2.5).	false
+939a06127961bd8fbd8feadce53037198f752dee	In conclusion, 25(OH)D deficiency is common in pediatric renal transplant recipients and correlates with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+918864b4497d6d0dfd8020be62cc051ab6dc709d	The high prevalence of cardio- and cerebrovascular death may be explained by multiple factors present in patients with progressive renal disease, including hypertension, @PHENOTYPICFEATURE$, hyperhomocysteinemia, diabetes mellitus, and @DISEASE$.	false
+7ded38f203bbd684c730b5481d0a3ed0bfc61af7	Two patients had gallstones and hyperlipidemia; four had gallstones alone; seven had @PHENOTYPICFEATURE$ alone; one had gestational diabetes mellitus; one had @DISEASE$ and pregnancy-induced hypertension alone; and one had Hashimoto's thyroiditis.	false
+6f4aad8a69569dba570175c598a357896eaf1cdd	Two patients had gallstones and @PHENOTYPICFEATURE$; four had gallstones alone; seven had hyperlipidemia alone; one had gestational diabetes mellitus; one had @DISEASE$ and pregnancy-induced hypertension alone; and one had Hashimoto's thyroiditis.	false
+108762972ed5f70d170e05e4d916689bf246cbdd	The available data suggest that many patients with MSK are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as hypercalciuria or @DISEASE$.	false
+49eb942b96d0da23d2aae5bbcef9d42b9fb1ae49	We hypothesized that 25(OH)D deficiency is common in pediatric renal transplant recipients, and may be associated with @DISEASE$, @PHENOTYPICFEATURE$, renal function, and blood pressure control.	false
+aa39281dd215bfd17fb74150bcb0a70571a4bae3	The development of obstructive CMP in a patient with @DISEASE$ indicates a possible pathogenetic role of endocrine factors and calcium @PHENOTYPICFEATURE$.	false
+9755ef87cb41a41fa7c2d2ef5a1d34f2472b338b	Hypercalcaemia (increased plasma total calcium concentration, [Ca]) has been associated with serious @PHENOTYPICFEATURE$ and sudden cardiac arrest in patients with @DISEASE$.	false
+a8313d906e42910ed8ff6517b73384531d4ecbbb	Anamnesis revealed signs of fetal respiratory distress, previous surgically removed subdural hematoma, recurrent episodes of @PHENOTYPICFEATURE$, arthralgia, polyserositis, hepatosplenomegaly, chronic interstitial nephritis with hypertension, microprotenuria, normocytic anemia, @DISEASE$ and secondary amyloidosis.	false
+75942ec51dad9ad3f7d045345dfc52bf309fe70e	There was a correlation between CRI and several co-morbid clinical factors: low hematocrit, @PHENOTYPICFEATURE$, hypocalcemia, hyperphosphatemia, and @DISEASE$, and the rate of progression to ESRD.	false
+8be4eddcc2cd830b3d27e23c3a59ced549e88a28	Arterial steal syndrome (@DISEASE$) causes distal hypoperfusion, resulting in hand ischemia or extremity pain and @PHENOTYPICFEATURE$.	false
+6bbb7a3c47f50ed8a061e36e48ad27b93328f438	In @DISEASE$ patients, we found that the total @PHENOTYPICFEATURE$ score correlated with CK, but 23% of the patients with normal CK had score?>?18.	false
+05facb0b2e932b9b56505e523bafadf49ab6ec95	Adverse reactions (urticaria, angio-@PHENOTYPICFEATURE$, bronchoconstriction, purpura) to Aspirin (@DISEASE$) and food-and-drug additives such as the yellow dye tartrazine and the preservative benzoate are observed all over the world.	false
+8dc2a1b4178369161a815e2161677c9ff38b0dd5	Muscle compartment analyses in @DISEASE$ patients showed that muscle @PHENOTYPICFEATURE$ was most pronounced anteriorly, while fatty replacement dominated posteriorly.	false
+5e6a6e37872eb33d23ff18b8f551353c99973cd9	Muscle @PHENOTYPICFEATURE$ was more frequent in @DISEASE$ patients than controls (38% versus?12%), as was fatty replacement (42% versus 4%).	false
+4d9363701ce9d85357a94513bb8ff78c6e442145	The differential diagnosis of unexplained @PHENOTYPICFEATURE$ should include @DISEASE$ and requires either a full-field or multifocal ERG.	false
+3b1eb99e53702e8c6f24deec1fb0ac57dc57ec56	Rapid and severe anterior capsular contraction following @PHENOTYPICFEATURE$ surgery is rare but appears to be associated with rod-@DISEASE$.	false
+fb4950dad27b05609c55f2b2a174185dae7861b3	A novel syndrome of progressive @DISEASE$ and @PHENOTYPICFEATURE$ is described in both siblings.	false
+bf5d80070e1bc053731623eef67da908458d18bd	Evidence of genetic heterogeneity in MRCS (microcornea, rod-@DISEASE$, @PHENOTYPICFEATURE$, and posterior staphyloma) syndrome.	false
+681b2589457b1a54d1ee4563f5f96396819e3d15	This syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, @PHENOTYPICFEATURE$ pigment epithelium, and rod-@DISEASE$) and a particular cleft ear lobule.	false
+caf55147f22556d6052369910071e529910be30d	This syndrome is characterized by ophthalmic anomalies (microcornea, @PHENOTYPICFEATURE$, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-@DISEASE$) and a particular cleft ear lobule.	false
+eba11b700d67581bbdf865db1cd6d64cb44d0a48	This syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, @PHENOTYPICFEATURE$, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-@DISEASE$) and a particular cleft ear lobule.	false
+8ee10e6f1a0bf99602ac67d8dd9fa66c4fb491e1	Newfoundland rod-@DISEASE$, an early-onset @PHENOTYPICFEATURE$, is caused by splice-junction mutations in RLBP1.	false
+7f443e3e5c9f503cf8334641c2984a56fcaf943e	Progressive @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8dfc161ac438471eca03f1f406b557c68c8d8e43	Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, @PHENOTYPICFEATURE$, chorioretinal colobomas and rod-@DISEASE$.	false
+b4c5ee6d84af6ca6b5123e73c3d12e8eff85a21e	Affected individuals had bilateral microcornea, pulverulent-like @PHENOTYPICFEATURE$, a rod-@DISEASE$ and posterior staphyloma (MRCS).	false
+5d31957c14813e2889da8e2ce53b92aa90b2ab2e	Rod-@DISEASE$, @PHENOTYPICFEATURE$, and renal dysfunction: an autosomal recessive syndrome?	false
+a4a7cf5db309c9599f42b104ee400c783799cd98	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, @DISEASE$, and posterior microphthalmos), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and telecanthus, familial retinal arterial macroaneurysms, and spherophakia with @PHENOTYPICFEATURE$).	false
+9d4b9066b2aa06245fd0be48ddc0260fb168fe12	@DISEASE$ (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing progressive visual loss and @PHENOTYPICFEATURE$.	false
+a6d5213b0e8d82ac11802292870b7df4d83fb4f7	Two patients have since required enucleation: 1 due to @PHENOTYPICFEATURE$ and 1 due to @DISEASE$.	false
+7bebb1ad858785f2a27685c34a672386cbdc75a2	Seven eyes have been enucleated: three due to neovascular glaucoma, one due to uveitic @DISEASE$, and three due to progressive @PHENOTYPICFEATURE$ enlargement.	false
+42cbfa633b5899c951eeff3da9e0dfacc8dbd7c4	Seven eyes have been enucleated: three due to @DISEASE$, one due to uveitic neovascular glaucoma, and three due to progressive @PHENOTYPICFEATURE$ enlargement.	false
+3a8746015eb5c7e2641701c541c6ca65c8cdcb84	Eleven patients (17.2%) required enucleation for either @PHENOTYPICFEATURE$ growth or @DISEASE$.	false
+40ce6294beea8f50394d61dd1e87578c2f4f9883	@DISEASE$ after radiotherapy of a small, pigmented, ciliary body @PHENOTYPICFEATURE$ raises the possibility of adenocarcinoma.	false
+bdb29f3d4379039b6f94bcea76dff766ab00a8a1	To determine the long-term results of carbon ion radiation therapy (C-ion RT) in patients with @PHENOTYPICFEATURE$, and to assess the usefulness of CT-based 2-port irradiation in reducing the risk of @DISEASE$ (NVG).	false
+a4b633ba42b63b4b49e528837e26b56c081093ff	Indications for secondary enucleations for uveal melanoma were @PHENOTYPICFEATURE$ recurrence, @DISEASE$, and tumor nonresponse.	false
+185be64beb2f5e3f7f3f8c87208368328eb11816	Indications for secondary enucleations for uveal melanoma were tumor recurrence, @DISEASE$, and @PHENOTYPICFEATURE$ nonresponse.	false
+874f05c3c8b3c59578c609459c942dca755ec6aa	was the height of the @PHENOTYPICFEATURE$; for @DISEASE$ the TNM class (RR 6.2, 95% CI 2.7-13.8);	false
+c9e64c04fd92071ba08d7c56a515e76a7d9811e8	Incidence of @DISEASE$ was dependent on @PHENOTYPICFEATURE$ size and site.	false
+5ba17ba1826628ac9542fb73592132e3733e03bf	In the brachytherapy group, two eyes were enucleated owing to @PHENOTYPICFEATURE$ recurrence and two because of @DISEASE$.	false
+0ecbe03af9b65fb65f098b169b7ca25222664ff8	Secondary enucleation was performed in 5 eyes because of @PHENOTYPICFEATURE$ recurrence or @DISEASE$.	false
+0aec93f4f76571e37356e582a791d8b310022ffc	Here, we compared etoricoxib, a specific COX-2 inhibitor, with other cyclooxygenase inhibitors on articular incapacitation, @PHENOTYPICFEATURE$, leukocyte migration, and gastric damage, in a model of LPS-induced @DISEASE$ in rats.	false
+0004507fb97cb4c336977e3621baeb5bbde236bb	The protective effect of anti-CINC-1, -TNFalpha and -IL-1beta antisera on articular inflammatory incapacitation, articular diameter and synovial fluid cell content, which are correlated to nociception, @PHENOTYPICFEATURE$ and cell migration, respectively, were evaluated in a rat model of LPS-induced @DISEASE$.	false
+9627714fa556e2ca38f2d8d304adef3f5a55e1c2	Contribution of TNFalpha, IL-1beta and CINC-1 for articular incapacitation, @PHENOTYPICFEATURE$ and cell migration in a model of LPS-induced @DISEASE$.	false
+092160b2fc0ed9eed7ca974f77a2082cd838be5a	Rupioid manifestations have been clinically observed in a variety of disease settings, including rupioid psoriasis, @DISEASE$, disseminated histoplasmosis, keratotic scabies, secondary syphilis, and @PHENOTYPICFEATURE$ lesions in association with aminoaciduria.	false
+10e81f2ced0dce1eea247f164bc783c3050739b5	Our investigation showed for the patients with @DISEASE$ typical is hyperkinetic type of haemodynamic, and also structural changes of the heart which manifestate by interventricular partition's thickness as a result of inflammatory @PHENOTYPICFEATURE$ and it's valve consolidation frequently whithout expressed blood regurgitation, and diastolic dysfunction's development of the left and right heart ventricles in hypertrophic type with disorders of their active relaxation and growth their chamber's rigidity.	false
+da01d6e15581ebc851ee85543c1a7bad3d99dd69	Intrathecally injected tramadol reduces articular incapacitation and @PHENOTYPICFEATURE$ in a rat model of lipopolysaccharide (LPS)-induced @DISEASE$.	false
+4ccf403532cb8f0f006cf06f92b25232621c7e9d	This study aimed to evaluate the effect of intrathecal thalidomide, in comparison with that of intraperitoneal treatment, on articular incapacitation, @PHENOTYPICFEATURE$, synovial leukocyte content, and spinal cord glial activation in a model of Escherichia coli lipopolysaccharide (LPS)-induced @DISEASE$ in rats.	false
+d8014e62893afb3bb599747e88e6d62286f68931	These include @DISEASE$ (A-T); ataxia telangiectasia like disorder (ATLD); ataxia @PHENOTYPICFEATURE$ type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+f35ca8be224bd9c33c54f3f5aee46bf9f62e742c	@DISEASE$ (A-T) is an autosomal recessive inherited disease characterized by progressive childhood-onset cerebellar ataxia, @PHENOTYPICFEATURE$, choreoathetosis and telangiectasias of the conjunctivae.	false
+d55d70f06876c0e40484113239d6ce34585be1c8	@DISEASE$ (A-T) typically presents with early-onset progressive cerebellar ataxia, @PHENOTYPICFEATURE$ and later, oculo-cutaneous telangiectasia.	false
+4f53c029bad7684bc8d823eb7c43de5607871891	Although the disease had early onset and the clinical picture was initially severe, suggesting @DISEASE$, neurological impairment, @PHENOTYPICFEATURE$ and neuropsychological tests showed very slow deterioration in adult age.	false
+de7d633f9b89d69bb0847697ef2aaa759c731c00	Ataxia and oculomotor apraxia are seen in @DISEASE$, type 1 ataxia with @PHENOTYPICFEATURE$, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation.	false
+1c5e1f018a65d04d3d89ee447304c00dc95eb3ef	Ataxia and oculomotor apraxia are seen in @DISEASE$, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with @PHENOTYPICFEATURE$; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation.	false
+505ecb8e6e08e54ea6726a6f01836c22690bf702	Ataxia with oculomotor apraxia (@DISEASE$-like syndrome [AOA]; MIM 208920) is an autosomal recessive disorder characterized by ataxia, @PHENOTYPICFEATURE$, and choreoathetosis.	false
+a0dc10e03546ce19663a77ae27360ef68bc415c6	Ataxia-@PHENOTYPICFEATURE$: a syndrome mimicking @DISEASE$.	false
+da5cebab8c79ee9b8b0c5c3f9e740e6c504a1f69	@DISEASE$ presenting as an extrapyramidal movement disorder and @PHENOTYPICFEATURE$ without overt telangiectasia.	false
+053e1ccd7851f3df00bcfa76f92d4603ca10fa25	@PHENOTYPICFEATURE$ and thermal tolerance in normal and @DISEASE$ human cell strains.	false
+12dadd22720b02a0f160e9905e096e7a1044164a	@DISEASE$ (Bloch-Sulzberger syndrome) manifesting as painful periungual and subungual @PHENOTYPICFEATURE$.	false
+e49d6df856b62d47ef12a5c63071ccab03c1d3c3	Incontinentia pigmenti (@DISEASE$) manifesting as painful periungual and subungual @PHENOTYPICFEATURE$.	false
+839db4b74c0f4986df352f0bb83fcbd0244d73e0	We report 2 cases of painful subungual dyskeratotic @PHENOTYPICFEATURE$ occurring in a mother and daughter with @DISEASE$ (IP) as a late manifestation of the disease.	false
+cd98d70082d12bd83664beb1c9bbd2de3edf3393	The present study confirmed that there is a negative association of head posture and @DISEASE$ whereas, cervical @PHENOTYPICFEATURE$ was present in Group I only.	false
+2d4ead9c17ed7821bab4291cb92bcbfdab70746f	Temporomandibular disorder (@DISEASE$) pain, @PHENOTYPICFEATURE$, migraine and tension-type headache are more prevalent in women than in men.	false
+5846be9fe68d937e8da445f2ea647a1753678959	This study assessed the relationship of back pain, headache, @PHENOTYPICFEATURE$, @DISEASE$ pain, and the presence of multiple pain conditions to gender and pubertal development in a cross-sectional, population-based survey of adolescents.	false
+633dc393a6280cc9b195173982526037a7090918	Results showed a tendency for subjects with more severe @DISEASE$ to exhibit cervical spine @PHENOTYPICFEATURE$.	false
+1033643b7a4bc7ea624f21c5bfa11a2221920407	These subgroups were not significantly different, but the subgroup with more severe @DISEASE$ showed a tendency to cervical spine @PHENOTYPICFEATURE$ prevalence.	false
+96afec861a2de42a18761c60596d050c1ac4daa9	Subjective oral evaluations were carried out for each subject, including oral pain (Melzack scale) for glossodynia, throbbing, aching, etc.; temporomandibular joint dysfunction (@DISEASE$); xerostomia (including intake of fluids, functional problems, etc.); dysphagia; dysgeusia; and information about frequent @PHENOTYPICFEATURE$ or lesions.	false
+f69ffa4da9d413d927a2b8c410d9df1e01e88564	Over the three year follow-up interval, rates of first onset were: 17.7% for back pain; 4.2% for severe headache; 3.0% for chest pain; 3.1% for @PHENOTYPICFEATURE$; and 6.5% for @DISEASE$ pain.	false
+e148f8daf59ef006ab52afb948433ca63ea653b6	There were not significant differences in onset rates of back pain, @PHENOTYPICFEATURE$ or @DISEASE$ pain by severity or chronicity of depressive symptoms.	false
+5e4ca6cc6eb125355adf077127714abf267dae57	Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, @PHENOTYPICFEATURE$ nephropathy) or non-metabolic (nail-patella or @DISEASE$) diseases.	false
+1edc6468ffeee1dd2a74eda5fbd7da2fd4340fd8	The Arab Genetic diseases include @DISEASE$, Meckel syndrome, autosomal recessive severe childhood @PHENOTYPICFEATURE$, osteopetrosis and renal tubular acidosis, Sanjad-Sakati syndrome and others.	false
+95cc1006ac3ba02d0b71618f786ccb8a29cf3415	Since the comorbid spectrum of @DISEASE$ phenotypes spans diabetes, renal disease, obesity, @PHENOTYPICFEATURE$, cardiovascular disease, and cognitive disorders, a broad spectrum of collateral oral disease may be encountered.	false
+78542d7032936fe744a5a293724f29e59d9a6a4b	By initiating physical activities twice a week, therapeutic control of both diabetes and @DISEASE$ improved, but @PHENOTYPICFEATURE$ persisted.	false
+8f379ee118c632e490f86ed2cea2a00667fdc2a8	@PHENOTYPICFEATURE$ is not affected by high peak blood ammonia level at onset; however, 32% of male and 52% of female @DISEASE$ patients over 1 year old were plotted under the 10th percentile, and showed growth failure.	false
+3f2f5b38726eedff20b07f680174cc7f076fef33	Besides an increasing concern for traditional CAD in young patients due to @PHENOTYPICFEATURE$ and other chronic pediatric diseases, there is also a growing population of adolescents and young adults with "at risk" coronary arteries due to: reimplanted coronaries in congenital heart disease, anomalous origin of the native coronary arteries, coronary abnormalities in @DISEASE$, and posttransplant coronary vasculopathy.	false
+e4a1946ea919de9ef2584f29f5a99b4b08d44749	The endothelial function in cardiomyopathic children remains unclear because of the lack of data; nevertheless, the known dysfunctions in children with @PHENOTYPICFEATURE$, type 1 diabetes and @DISEASE$ may influence the severity of the cardiovascular symptoms, the prognosis, and the mortality rate.	false
+b2cadf858ee4c99b8570efd458e1e0fca2bbe70f	Similar types of mutation (plus eight alanines) have recently been found in another @DISEASE$ family and also in the human HOXD13 gene (plus seven up to plus 14 residues) where it leads to synpolydactyly (SPD), a further congenital limb malformation rarely associated with @PHENOTYPICFEATURE$.	false
+23d601e5b5c3f13584510e57a1bbb276124111fd	Hypomagnesaemia @DISEASE$ most often in patients treated with intravenous fluids or diuretics, and hypermagnesaemia in patients with @PHENOTYPICFEATURE$.	false
+fff17ad8c3f749dcbd0093d35ee1d6ad8c9d6e64	Occasionally unilateral hypertrophy @DISEASE$, suggesting parotid @PHENOTYPICFEATURE$.	false
+d1bd86376683e60e1ae896e52fd387162b7ef113	Cavernomas @DISEASE$ several years after radiotherapy for brain @PHENOTYPICFEATURE$.	false
+aea4e6cf0776121a8c6c5a44aaf7b63f91c5d0ff	Later @DISEASE$ fever, difficulties with breathing, cough, fast progressing paresis of tree limbs, thinning and nephrotic syndrome with fast growing @PHENOTYPICFEATURE$.	false
+54c6f42a2da43ecd91ce4b086eed4d46c216e075	Sensory symptoms begin in the hands and feet (numbness, pins and needles), certain reflexes are lost and, with severe exposure, @PHENOTYPICFEATURE$ and atrophy @DISEASE$ in the extremities.	false
+f3c537b068044aee17b7098091defffd41d760d6	Hypoxia @DISEASE$ in two forms in @PHENOTYPICFEATURE$.	false
+d0ab43d361b3f4448338f8357304bfc176fff914	With recurrent hemarthrosis, recurrent synovitis @DISEASE$, which eventually leads to the formation of articular @PHENOTYPICFEATURE$.	false
+024403db97c8260cfef575e7a11c172799ed1541	If significant bone lesions, @PHENOTYPICFEATURE$, or hypercalcemia @DISEASE$, chemotherapy or transplant is recommended.	false
+3c12aefd29fcb023164814d856744a26d7fd030d	Once @PHENOTYPICFEATURE$ @DISEASE$, early dialysis may increase the chances of recovery in these critically ill patients.	false
+ef16334c503c5e1671a823f3e2191f218d1399ee	Joint stiffness, corneal clouding, , umbilical hernia, abnormal facies, hepatomegaly, @PHENOTYPICFEATURE$, and cervical myelopathy @DISEASE$.	false
+d015833ad6805217441b137860ff163f168377df	Atypical ocular side effects include branch or central retinal artery occlusion, central retinal vein occlusion, anterior ischemic optic neuropathy, optic disc @PHENOTYPICFEATURE$, @DISEASE$ and vitreous hemorrhage.	false
+31e168542039394369fa4110460540c4442662e8	A patient with neurosarcoidosis presenting with compressive ischemic optic disc @PHENOTYPICFEATURE$ and @DISEASE$ is described, increasing the diversity of clinical presentations and confirming the diagnostic challenge of neurosarcoidosis.	false
+f308f0208b7e1a1bd7aff706899fab840fc57ff7	Chronic hyperglycemia is linked to development of several ocular pathologies affecting the anterior segment, including diabetic corneal neuropathy and keratopathy, @DISEASE$, @PHENOTYPICFEATURE$, and cataracts leading to significant visual defects.	false
+28b1a9efad86efbac1496883daeee2556cabf917	Postoperative complications were microcorneal @PHENOTYPICFEATURE$ (4 eyes), anterior chamber hyphema (3 eyes), posterior capsular opacity (3 eyes), fibrinous pupillary membrane (2 eyes), iris posterior synechia (2 eyes), @DISEASE$ (1 eye), and retinal detachment (1 eye).	false
+b8ea850bdbef87fb0709ac5d75ffbf71fb00e184	The metabolic complications associated with PN in adult patients include hyperglycemia, @PHENOTYPICFEATURE$, hyperlipidemia, hypercapnia, refeeding syndrome, acid-base disturbances, liver complications, manganese toxicity, and @DISEASE$.	false
+c3dbd75c9a4e397c5e0a5134898abfa1d11e95f2	The metabolic complications associated with PN in adult patients include hyperglycemia, hypoglycemia, @PHENOTYPICFEATURE$, hypercapnia, refeeding syndrome, acid-base disturbances, liver complications, manganese toxicity, and @DISEASE$.	false
+a9f47ec13205dc208131ebdf782d5b1c8e347a64	The metabolic complications associated with PN in adult patients include @PHENOTYPICFEATURE$, hypoglycemia, hyperlipidemia, hypercapnia, refeeding syndrome, acid-base disturbances, liver complications, manganese toxicity, and @DISEASE$.	false
+167c579519f8d1788c4d92ff8bcaa445fadc9149	Bisphosphonates currently are the most important class of antiresorptive agents used in the treatment of @DISEASE$, including tumor-associated osteolysis and @PHENOTYPICFEATURE$, Paget's disease, and osteoporosis.	false
+9a9630b3b1af8fd56a9f3c90e4331a9da43b2164	Four patients with thyrotoxicosis, @PHENOTYPICFEATURE$ and @DISEASE$ are described.	false
+45fe71087424312f11f24620e9454ce3fb576fa5	The value of radioimmunoassay of parathyroid hormone in diagnosis of hyperparathyroidism, renal calculi, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b8ea850bdbef87fb0709ac5d75ffbf71fb00e184	The metabolic complications associated with PN in adult patients include hyperglycemia, @PHENOTYPICFEATURE$, hyperlipidemia, hypercapnia, refeeding syndrome, acid-base disturbances, liver complications, manganese toxicity, and @DISEASE$.	false
+c3dbd75c9a4e397c5e0a5134898abfa1d11e95f2	The metabolic complications associated with PN in adult patients include hyperglycemia, hypoglycemia, @PHENOTYPICFEATURE$, hypercapnia, refeeding syndrome, acid-base disturbances, liver complications, manganese toxicity, and @DISEASE$.	false
+a9f47ec13205dc208131ebdf782d5b1c8e347a64	The metabolic complications associated with PN in adult patients include @PHENOTYPICFEATURE$, hypoglycemia, hyperlipidemia, hypercapnia, refeeding syndrome, acid-base disturbances, liver complications, manganese toxicity, and @DISEASE$.	false
+f12107bfcda4e4af07677bbf8b36f99e9effec53	Disturbances in mineral metabolism, namely @PHENOTYPICFEATURE$-@DISEASE$, became more profound with impairment of renal function.	false
+070ca8c3691dc6b4a02f2c86f552f4b94d7faf3a	Progression of CKD is associated with a number of serious complications, including increased incidence of cardiovascular disease, @PHENOTYPICFEATURE$, anemia, and @DISEASE$.	false
+f2bb8600a78201ee5da82221461e9d972d9333de	Among these complications, saltwater retention, thromboembolism, @PHENOTYPICFEATURE$, @DISEASE$, infections are important for management of nephrotic syndrome.	false
+6e053b17291bdaed78d7474601c7f068129a2645	Care of kidney transplant recipients could be substantially improved, particularly in regard to @PHENOTYPICFEATURE$-@DISEASE$, when regular check-ups for calcium-phosphate balance are implemented and proper treatment could be introduced to prevent further chronic kidney disease-metabolic bone disease.	false
+bf43e63ccbfc2cc3b972dd56058ed99aad33ec9a	Care of kidney transplant recipients could be substantially improved, particularly in regard to @PHENOTYPICFEATURE$-metabolic bone disease, when regular check-ups for calcium-phosphate balance are implemented and proper treatment could be introduced to prevent further chronic kidney disease-@DISEASE$.	false
+8bd05417f31e667d1ab6131598905509a691704d	We describe a new familial @DISEASE$ characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic @PHENOTYPICFEATURE$.	false
+3cf5bebcae34f890ad79d959905651f845baff81	We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, @PHENOTYPICFEATURE$, bilateral retinopathy similar to that seen in @DISEASE$, with de novo duplication of a subtelomeric region of chromosome 4q35.	false
+3006a6d313de3b3ff9b1423c1ec2e76a7f6709bb	Like the aggressive form of astrocytic @PHENOTYPICFEATURE$ it can lead to @DISEASE$ and exudative retinal detachment.	false
+2600efe02f71ba195fd5c3912f6207ea0c11f95c	There were 27 different pseudoretinoblastoma conditions, and the 10 most common included @DISEASE$ (n = 244; 40%), persistent fetal vasculature (PFV; n = 158; 28%), vitreous hemorrhage (n = 27; 5%), ocular toxocariasis (n = 22; 4%), familial exudative vitreoretinopathy (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic @PHENOTYPICFEATURE$ (n = 15; 2%), combined hamartoma of retina and retinal pigment epithelium (n = 15; 2%), and endogenous endophthalmitis (n = 10; 2%).	false
+624c567499553bec9d1f6d91ba73b2989ab064da	There were 27 different pseudoretinoblastoma conditions, and the 10 most common included @DISEASE$ (n = 244; 40%), persistent fetal vasculature (PFV; n = 158; 28%), vitreous hemorrhage (n = 27; 5%), ocular toxocariasis (n = 22; 4%), familial exudative vitreoretinopathy (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%), combined @PHENOTYPICFEATURE$ of retina and retinal pigment epithelium (n = 15; 2%), and endogenous endophthalmitis (n = 10; 2%).	false
+58ff592c4e8e5f6130496f0354c87a4f8b616c99	In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (@DISEASE$), sparse hair, and @PHENOTYPICFEATURE$ without cyst formation.	false
+26eecda205064b941e52733168de6b025d7058ba	Clinical diagnoses included retinoblastoma in 10 (23%) eyes, @DISEASE$ in 4 (9%) eyes, retinal capillary hemangioma in 3 (7%) eyes, astrocytic @PHENOTYPICFEATURE$ of the retina in 3 (7%) eyes, toxocara granuloma in 2 (5%) eyes, and others.	false
+8d9bdac0dc58f0b625014f005e96029d3bce032f	In the group with an autosomal dominant mode of inheritance we include benign familial infantile @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7eced61c59f98de5c127b83f7a14cdb3680628b6	Mutations in the voltage-gated sodium channel alpha2 subunit (SCN2A) gene on chromosome 2 were recently identified in families affected by neonatal and infantile @PHENOTYPICFEATURE$ (@DISEASE$, BFNIS) with typical onset before 4 months of life.	false
+fa69fdbca5c98cfe621fbc3c96341c3e455006b1	We report two new cases of @DISEASE$ which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue @PHENOTYPICFEATURE$, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma.	false
+18549f475ea735fcbb6a1a088cc434dd06707e0e	Additionally, @PHENOTYPICFEATURE$, keloids and various congenital anomalies including congenital heart defects have been reported in @DISEASE$ patients.	false
+9c4efe7bad623df3c9c969c7f67585ea4a1544e5	We report the case of a 63-year-old male with @DISEASE$ who developed multiple cutaneous @PHENOTYPICFEATURE$ (three basal cell carcinomas, three squamous cell carcinomas and Bowen's disease) over the previous 15 years.	false
+9b761d0998725263dae68bc968e1594b1a910670	@DISEASE$ (RTS) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), @PHENOTYPICFEATURE$, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies such as osteosarcoma and hematological neoplasms.	false
+c7ba2d19a36bd6975c5d2ec94eacdab96edadee2	Rothmund-Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by skin rash (poikiloderma), @PHENOTYPICFEATURE$, small stature, juvenile cataracts, sparse or absent hair, and predisposition to specific malignancies such as osteosarcoma and hematological neoplasms.	false
+97b82b9f4e7badd4702f58cbbbfe489b5db1f274	Inherited mutations in genes involved in HR are associated with gene rearrangement and may be a prerequisite for @PHENOTYPICFEATURE$ development in some cancer-prone hereditary diseases like Bloom, Werner and @DISEASE$.	false
+5bff7b40597d37a9758bc393f4b94fce336d5138	Multiple cutaneous @PHENOTYPICFEATURE$ in a patient with @DISEASE$: case report and published work review.	false
+88b758cfd9f7775f62f512c273583d83388120cb	We describe the radiological features of @DISEASE$, a rare condition of autosomal recessive inheritance, which is commonly associated with a generalised @PHENOTYPICFEATURE$.	false
+378a0b70134dcbe258a329822d082442f0740efb	It would be important to know whether there is a correlation between DNA repair and development of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2ab32da77160ba2e1fe03b86420ed02e5b13853f	We report a case of @DISEASE$ in a two and a half year old female Nigerian associated with unusual @PHENOTYPICFEATURE$ and acral blisters at birth.	false
+4bb749b830e9b6ef92fec6e51934cd195603ef14	@DISEASE$ (RTS; also known as poikiloderma congenitale) is a rare, autosomal recessive genetic disorder characterized by abnormalities in skin and skeleton, juvenile cataracts, premature ageing and a predisposition to @PHENOTYPICFEATURE$.	false
+c605f105008be5fe9c3b06adb3fdd2f994ef068a	Adult-to-adult LRLT was performed using whole left lobar grafts in 13 patients (5 with primary biliary cirrhosis, 6 with @DISEASE$, 1 with @PHENOTYPICFEATURE$, and 1 with citrullinemia).	false
+7c871e7e35e2d5b52d01cfe9e212054f6584b1df	@DISEASE$ in a child previously described with brachydactyly, extrahepatic @PHENOTYPICFEATURE$, patent ductus arteriosus and seizures.	false
+45421f216cafdf710472b4baa189e4f96c9e30b4	The @DISEASE$ (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, @PHENOTYPICFEATURE$, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation.	false
+08598f11e8394fa44aa72492aa79e69aa7a34bf6	We propose to expand the acronym of this syndrome and name it as @DISEASE$-hypothyroidism-ichthyosis-@PHENOTYPICFEATURE$ or dysmorphic features syndrome.	false
+f54aef1021fac4c6041c0a0259c0e04484937870	We report on 4 children from 2 unrelated families who appear to have the lethal @DISEASE$ (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of nephrogenic diabetes insipidus and cerebral anomalies, including @PHENOTYPICFEATURE$.	false
+31d6a99944178b5e89b9d3750eeeef505ed2b3bd	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, growth retardation, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and @DISEASE$, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+ac52e9dc26cda59fda060e3cce0f0b9be6ebf265	In the present study, we established models of @DISEASE$ and late cancer @PHENOTYPICFEATURE$ (LCC) and compared different stages of cancer cachexia using two cancer cachectic mouse models induced by colon-26 (C26) adenocarcinoma or Lewis lung carcinoma (LLC).	false
+2f90837a3f769ea75ad1bbac2698989188e99c0c	Aortic regurgitation (AR) in horses can lead to left ventricular (LV) @DISEASE$ hypertrophy, @PHENOTYPICFEATURE$ and heart failure.	false
+43d018faa2d19303be91eb908826bf7a11b33971	The results indicate that @PHENOTYPICFEATURE$ is a common complication after pneumonectomy for @DISEASE$ surgery.	false
+aea539ecfa62c44c7f7a969d52de12d78d0b933c	Although breast @PHENOTYPICFEATURE$ has been reported with other systemic etiologies, it has not been described in patients with @DISEASE$.	false
+95c42e5e7e42db74e6828fc927b62c1f754b6f72	Cardiotoxicity was not observed except for an episode of @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and prior radiation.	false
+1dfd1d6a2f962c300ff1ebb3e1a78943e74bfb1c	The patient then showed no sign of an @PHENOTYPICFEATURE$ attack during therapy for @DISEASE$.	false
+816931293f69293e9cae1f920c99176d7ae0f3ad	The incidences of pulmonary infection and @PHENOTYPICFEATURE$ were high for patients who underwent @DISEASE$ surgery.	false
+09cdf921ee9e569e150f827b3e76ce739b4e8203	A case of @DISEASE$ with unilateral anhidrosis and contralateral @PHENOTYPICFEATURE$ as the first clinical manifestation.	false
+8af90f0e5e635452e591eae057e27681d261eeb2	Remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ syndrome complicated with primary @DISEASE$.	false
+16375ed6b1639a29cddfaa0a0c0b9d6411220eee	We here report a case of remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ syndrome complicated with @DISEASE$.	false
+cc32eda7b52e9879014979da439902f2c76d828a	A very rare case of a large-sized brain metastasis of @DISEASE$ without perifocal @PHENOTYPICFEATURE$ is reported.	false
+76cc27c8b9f5c1eda2337c376a72d1b21a256c42	[Retrospective analysis on risk factors of postoperative @PHENOTYPICFEATURE$ in 352 cases @DISEASE$ with senile patients].	false
+5a00402289266c3ca405bdf14bd1ede8e3673730	@DISEASE$ is characterized by hypotonia, developmental delay, dysmorphic features, @PHENOTYPICFEATURE$, and so forth.	false
+71cce38c638fb4f4f141356ff5c08e5bb356fdb5	Cenani-Lenz syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ that results in malformations of the distal limb, renal anomalies, and characteristic facies.	false
+d2c76fbb1774562b950a6d262b644cf8a7367a31	Cenani-Lenz syndrome (@DISEASE$) is an autosomal recessive skeletal dysplasia that results in malformations of the distal limb, @PHENOTYPICFEATURE$, and characteristic facies.	false
+ffcbe7196d37e9a3da47e060427a9b1d410a016c	This novel technology has great potential for application in @DISEASE$ because it enables generation of accurate depictions of small target @PHENOTYPICFEATURE$ and increases the surgeon's confidence during the procedure.	false
+29c1d60b4f274868d7c7d14207196fe5ee28ed6a	Familial multiple cafe au lait spots (CLS) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple @DISEASE$ seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest @PHENOTYPICFEATURE$.	false
+551404265677d7360c9ad8d74ffe163a25ac376a	Familial multiple cafe au lait spots (@DISEASE$) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest @PHENOTYPICFEATURE$.	false
+b163f98dbc6637b0c77d3061e0f9b677a9c74a28	There were no significant differences in age, gender, disease stage, @PHENOTYPICFEATURE$ location or tumour size between the SILS and @DISEASE$ groups.	false
+e7843064b32f6551cc201764ae2c36839a8da1ad	There were no significant differences in age, gender, disease stage, tumour location or @PHENOTYPICFEATURE$ size between the SILS and @DISEASE$ groups.	false
+c275904ac63395029bb5c038ee925c68ec53e53d	Clinical @PHENOTYPICFEATURE$ size, @DISEASE$, and depth of tumor invasion were independent prognostic factors.	false
+6699f071c4a491934e914c9f2322e1a26e766c91	Clinical tumor size, @DISEASE$, and depth of @PHENOTYPICFEATURE$ invasion were independent prognostic factors.	false
+136980dc50e7ecca27aa565308c892857a5d08a5	We evaluated the invasiveness of LECS in comparison to conventional laparoscopic surgery (@DISEASE$) for endoscopically unresectable colorectal @PHENOTYPICFEATURE$.	false
+6849d0a80995e74561bcc6eb00c623750213288e	The implementation of @DISEASE$ to determine cochlear deficits linked to vestibular schwannoma seems to be medically sensible if the @PHENOTYPICFEATURE$ size exceeds 5?mm.	false
+376822ccdbcee0c9864ef581463802f0bb3c94c1	The groups were matched 3:1 for @PHENOTYPICFEATURE$ size (+/-5 mm), histology, depth of invasion (+/-2 mm), and presence of capillary lymphatic space invasion (@DISEASE$).	false
+e7c0e801f23c458edb98e5035fb95215b5b4842f	In contrast, @DISEASE$ is a well-known side effect of high-dose interleukin-2 (IL-2) therapy in solid @PHENOTYPICFEATURE$.	false
+118e8451ee84581ca905a52effce12d4b1de76dc	Intratumoral injection of @DISEASE$ is safe even with CLS leaks in surrounding normal lung tissues and may be a potent therapy for controlling mediastinal lymph nodes metastasized from lung cancer as well as the primary @PHENOTYPICFEATURE$.	false
+8940ca1e71c64850a89433f0f43fae58b64fe1c9	Intratumoral injection of CLS is safe even with @DISEASE$ leaks in surrounding normal lung tissues and may be a potent therapy for controlling mediastinal lymph nodes metastasized from lung cancer as well as the primary @PHENOTYPICFEATURE$.	false
+edf0123ce2d9fc9869daeb0542990a308e36f41e	We describe a 32-year-old female patient with a history of systemic @DISEASE$ and common variable immunodeficiency with recurrent, multiple, soft, @PHENOTYPICFEATURE$ and violaceous nodules on the back of her left hand.	false
+b394e57279d24a6c3dfc4779460a5773c26e0731	We report the development and spontaneous resolution of annular @PHENOTYPICFEATURE$ skin lesions consistent with @DISEASE$ dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2	false
+3f928b3cebd76c31e35c7983154a31be854ded63	We hypothesized that @DISEASE$ patients would report more severe @PHENOTYPICFEATURE$ than healthy controls and that relationships would be found with sleep disturbance and the severity of other symptoms.	false
+2a1e0e7d3e2626bae9dac170a9dc1e967a0bff82	In the differential diagnosis, metastases, lymphoma, multiple myeloma, @PHENOTYPICFEATURE$ @DISEASE$ and rare spinal infections such as brucellosis and fungal disease were considered.	false
+5bc73ccf386a71175a4e6d85958fd10ef6c23bc6	Traditional measures of @DISEASE$ disease severity or activity were not associated with @PHENOTYPICFEATURE$.	false
+4a48ca85ca74e2c6423f932600aecea099946817	A mother with complete absence of the permanent teeth had two children with split hand/split @PHENOTYPICFEATURE$, as typically seen in the @DISEASE$.	false
+f5ccd91677c9905c0daa1e3ab845009519e64e7a	The cause of @PHENOTYPICFEATURE$ in @DISEASE$ appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency.	false
+7cc875400c92b2606da29f5bb6c15d6dcf43d6a5	Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/@PHENOTYPICFEATURE$, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus @DISEASE$.	false
+5678a90f24b02ddde13a74161b3f4eff03b93f5e	We report     an 18-year-old female patient who presented to us with history of headache and     @PHENOTYPICFEATURE$ and was observed to have @DISEASE$ with cervical cord     syrinx on imaging.	false
+d5a1ac48e02ba2cfcb06d0c24dfbebf3c73af5ad	@PHENOTYPICFEATURE$ and Neck Swelling in a Case of Undiagnosed @DISEASE$ and Cowden Syndrome.	false
+bab2ad3041f93d0ee5a10e2fb6ddcf4275a496c7	Frequent @PHENOTYPICFEATURE$ attacks in a patient with @DISEASE$: a rare pathophysiology of cerebellar lesions?	false
+725d806d205c4f46a65fcc94fef9fe94793956ba	De novo germline PTEN mutation in a man with @DISEASE$ which arose on the paternal chromosome and was transmitted to his child with @PHENOTYPICFEATURE$ and Wormian bones.	false
+fb756eddd81bc50be7760eb25af82f0ed2117453	@PHENOTYPICFEATURE$ has previously been described in two patients with @DISEASE$ and CS and is thus likely to be a rare sign of PTEN mutations.	false
+44b591f36bcff5ecefe0333fb43b292104fb9a30	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and @DISEASE$), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+1223cad4d192b161992d35c31ce8f2bf3ef99e2a	Upper @PHENOTYPICFEATURE$ in @DISEASE$ syndrome.	false
+f2235a96f21df37e5f4fbe5b483ef928e9d54763	@DISEASE$ is associated with polycystic kidney disease in 50 percent of the cases, and the prognosis depends on the degree of @PHENOTYPICFEATURE$.	false
+5b8ca33847a0f521284864a375fdcecf02ecae76	Before the TIPS procedure, these procedures are used to exclude contraindications such as @DISEASE$, hypervascular hepatic @PHENOTYPICFEATURE$, and portal vein thrombosis.	false
+5f1cf6c07e521162e3904e0a989c759db406d717	A total of 102 patients (67 with simple cysts, 31 with @DISEASE$ [PCLD], four with cystic @PHENOTYPICFEATURE$) underwent 62 laparoscopic deroofings, 15 open deroofings, 36 resections and one liver transplant between June 1985 and April 2006.	false
+9bc44514f393ab39f7d44eb6db5fcd8ac2c3b1df	Among benign @PHENOTYPICFEATURE$, @DISEASE$ (PLD) is the most common indication for OLT alone, or combined liver-kidney transplantation.	false
+6809d84828975be0950a8c1d4b6d92d0ab8e7089	Benign @PHENOTYPICFEATURE$ discussed include hemangiomas, focal nodular hyperplasia, hepatocellular adenoma, and simple cysts, as well as cysts associated with @DISEASE$.	false
+91adf83dec46f4f29373afd2774628d2e0ad7ecb	The differential diagnosis of such cystic liver @PHENOTYPICFEATURE$ includes simple cyst, @DISEASE$, hydatid, liver abscess, haematoma and biloma.	false
+451afd0ef65b54fa0d494877d3750ad7da9d1b9e	Accordingly, if liver function tests are abnormal, an attempt should be made to identify complications of @DISEASE$ such as @PHENOTYPICFEATURE$, cyst infection, and biliary obstruction.	false
+d15f40daed52670876dad91ac74498adc15ae21d	There is no known association between @DISEASE$ and neuroendocrine or other @PHENOTYPICFEATURE$.	false
+cec8836a53959fa635d0239554330085afbfa19c	The laparoscopic approach is indicated in patients with symptomatic or atypical benign solid @PHENOTYPICFEATURE$, giant solitary cyst and @DISEASE$, located anteriorly on the liver.	false
+f34db55320c470a78055167492d35a116d950d3e	Endocrine @PHENOTYPICFEATURE$ can be mistaken for @DISEASE$.	false
+b780cabdbc3e4bdd08bb7d77b30ab081b63f4471	Of six pairs of temporal bones from patients with Paget disease in the temporal bone collection of a research institution, two pairs have abnormalities not previously associated with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+b73e0e74000a371b4705b605c91a2b6517cedd98	Of six pairs of temporal bones from patients with @DISEASE$ in the temporal bone collection of a research institution, two pairs have abnormalities not previously associated with @PHENOTYPICFEATURE$ or Paget disease.	false
+31afc658f28ca2b1c9685f7fa2eb6e9b17c5b50e	MRI of @DISEASE$ with temporal bone involvement presenting with @PHENOTYPICFEATURE$.	false
+c6c3b67b5a78d0c17ffd7394d3bf38b5a10ddef1	@DISEASE$ and @PHENOTYPICFEATURE$ associated with spiral ligament degeneration.	false
+b0e86345de645c0829149d20b77231aa4af1bbbd	A large mass in the right orbit, causing proptosis, @PHENOTYPICFEATURE$ of the right upper eyelid, and limitation to eye movements, was surgically removed from a 51-year-old woman suffering from @DISEASE$ (PBD).	false
+9749065d3590e167b8941002877375a096b91033	We report the case of a 78-year-old female patient with @DISEASE$ of the forehead who presented with rapidly increasing bilateral proptosis and @PHENOTYPICFEATURE$ for several months.	false
+f6c9d4d6c143f7c59c0327c9e73bf66c7d25d8d2	We report a 50-year-old woman with @DISEASE$ who had progressive bilateral sensorineural hearing loss and right @PHENOTYPICFEATURE$.	false
+538e42beeeeb0654df2c923eb7466e3283a15424	Immunoprecipitation was used to identify adenovirus type 2 (@DISEASE$) @PHENOTYPICFEATURE$ antigens synthesized in vivo.	false
+de0fbe0eeba67a8e52acf3183887e16a46928b22	A 5-year-old boy with @DISEASE$ who exhibited marked involvement of the cranial bones developed marked disk @PHENOTYPICFEATURE$ in a one-year period.	false
+321df126d646bf3d03b257981994f9c70357407b	Transcriptional profiling of @DISEASE$ (MBEN) reveals two clinically relevant @PHENOTYPICFEATURE$ subsets with VSNL1 as potent prognostic marker.	false
+43a180fbdb72fd1baaf27247726472b2c48a026b	All of these @PHENOTYPICFEATURE$ have regions resembling medulloblastoma; this finding suggests that @DISEASE$" represents one form of medulloblastoma.	false
+c99c7af8ea40b007e7a2a907a1815d4ceb8e6c88	The @DISEASE$, all of the medulloblastomas, and all of the non-neuronal intracranial @PHENOTYPICFEATURE$ were negative.	false
+fc1988061e18e7a30dfa68ed99c7db10e5deebc2	Additionally, desmoplastic @PHENOTYPICFEATURE$ lacking detectable LOH each showed histological features of so-called @DISEASE$, a subgroup of desmoplastic medulloblastoma with extensive neuroblastomatous differentiation.	false
+375efe1db2c67e9ff3a385d2ed104d401042e755	@DISEASE$ (MBEN) is the only type of medulloblastoma (MB), an aggressive CNS @PHENOTYPICFEATURE$ of childhood, that is connected with favourable prognosis.	false
+2717db7590fb57d5cfd9491cd19513f79685c968	If a given @PHENOTYPICFEATURE$ has an evidence of a different clinical features, genetic profile or prognostic behavior, it was considered to be histological variants; these included pilomyxoid astrocytoma, @DISEASE$, and anaplastic medulloblastoma.	false
+9821a18d10efc889f44737bab47c3a30f0744efb	@DISEASE$: a @PHENOTYPICFEATURE$ exclusively of infancy?	false
+ab281264c6c7ce74559b3fd39a339b9c952d5957	In patients with @DISEASE$ @PHENOTYPICFEATURE$ resection and chemotherapy are sometimes sufficient.	false
+a98ceaf03511adc5c2d60e50b9ba0fa71d51cbbc	It is suggested to call this @PHENOTYPICFEATURE$ cerebellar neurocytoma, distinguishable from medulloblastoma or @DISEASE$ as most important differential diagnoses.	false
+7b7f3e9f707c80ae0c7d5cfa670c4f2b0bb08cc1	@DISEASE$ (MBEN) is one of the few central nervous system (CNS) @PHENOTYPICFEATURE$ entities occurring in infants which is traditionally associated with good to excellent prognosis.	false
+df453be80a2427da2ee0e47237508520f1cffce4	We examined PF-06463922 activity in ALK-driven neuroblastoma models in vitro and in vivo In vitro kinase assays and cell-based experiments examining ALK mutations of increasing potency show that PF-06463922 is an effective inhibitor of ALK with greater activity towards @DISEASE$ @PHENOTYPICFEATURE$.	false
+41e761ee9bbbb18a381a71e381851c0257f35589	@DISEASE$ is an unusual type of @PHENOTYPICFEATURE$ with megalocornea and developmental delay.	false
+2b7ac1343ca4059725004efe6f17766e98d196c7	Deprivation of pantothenic acid elicits a @PHENOTYPICFEATURE$ and @DISEASE$ in a mouse model of pantothenate kinase-associated neurodegeneration.	false
+51ee7280844321e30e811d460ef77c52e69264db	A case report is presented of a young @PHENOTYPICFEATURE$ man with a large pituitary adenoma with suprasellar extension, normal visual fields, decreased libido, impotence, hypogonadism and @DISEASE$.	false
+90c88f5c8e424b628ee6e7cc46a52f2342f58b03	@DISEASE$ (HPC) of the orbit is a rare tumor presenting with slowly progressive proptosis, ocular motility impairment and @PHENOTYPICFEATURE$.	false
+e882cba802280367e01358e5f192689aa90ea205	Prenatally detected umbilical cord @PHENOTYPICFEATURE$ as a sign of @DISEASE$.	false
+bb6923e5bef710e3bcf6e25e1064f83d258bf7a7	The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has @DISEASE$, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and @PHENOTYPICFEATURE$.	false
+dd859c46ff31fbd3f417a1e1436204296c1d5310	We report the case of a 3-year-old Korean girl with @DISEASE$ who presented with status epilepticus associated with @PHENOTYPICFEATURE$ and pneumonia.	false
+8d2d6d8c382c5dd180baba2347d613adf3cee40e	Finally, the molecular pathogenesis as well as the clinical significance of @DISEASE$- and @PHENOTYPICFEATURE$-associated carcinogenesis is addressed.	false
+c06a3d0e09d1b11c75976388cdd9163de65d8c1e	The molecular pathophyiology is still incompletely understood but association with other auto-inflammatory diseases such as inflammatory bowel disease (@DISEASE$), psoriasis, Wegener's disease, arthritis and synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome is interesting.	false
+2004c3354ec4f45348e92b204dc6640ccf7fa931	The molecular pathophyiology is still incompletely understood but association with other auto-inflammatory diseases such as @DISEASE$ (IBD), psoriasis, Wegener's disease, arthritis and synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome is interesting.	false
+89cb540fc275c4d5062bc6dac41a65c05df24c54	Major diagnoses were: functional abdominal pain (n = 22), @DISEASE$ (n = 26), @PHENOTYPICFEATURE$ (n = 17) and miscellaneous gastrointestinal conditions (n = 35).	false
+332bcf910f6379e9bfd7456befcba06ef11fb5c7	Causes included adhesions, internal @PHENOTYPICFEATURE$, incarcerated incisional hernia, and @DISEASE$.	false
+a857847d97ce40118f1a68ba4980e8f6a9dc7540	Atopy and eczema, asthma, connective tissue disorders, diabetes mellitus, @PHENOTYPICFEATURE$, and @DISEASE$ had no significant association with a positive keratoconus diagnosis.	false
+46cb69787940add98b78554ba04bd66c6d3abd04	Long-term prognosis is generally favourable, but complications such as renal disease, @DISEASE$, @PHENOTYPICFEATURE$, inguinal hernias, spermatoceles and male subfertility are possible.	false
+09d4520ed7ca8391855040508f66c6f5824d5ad8	Thirty-nine percent of the patients with @DISEASE$ had clinical articular manifestations: 30% had inflammatory @PHENOTYPICFEATURE$, 10% had synovitis, and 7% had a peripheral enthesopathy.	false
+2825f8106052f678701b863222d756c5e82d63df	The dysregulation of NF-kappaB is associated with many disease states such as AIDS, atherosclerosis, asthma, arthritis, cancer, diabetes, @DISEASE$, @PHENOTYPICFEATURE$, stroke, and viral infections.	false
+83dcbbb3aca6763504091bdc63a58d7df45ad1f9	Secondary pediatric nonneoplastic HOA is associated with cystic fibrosis, congenital heart disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3d91dafebc12e41e788fa6fa8be59cc898374bc7	Peripheral arthritis (14 vs. 0?%, p?<?0.001), @DISEASE$ (10 vs. 2?%, p?=?ns), and @PHENOTYPICFEATURE$ (29 vs. 4?%, p?=?0.001) were more common in CNO.	false
+8836009e75af84af02b4d7761d46a98de5c32423	@DISEASE$: those little @PHENOTYPICFEATURE$.	false
+b69fba276a44544968463f512a996d80039910a3	Steatocystoma is a benign adnexal @PHENOTYPICFEATURE$ originating from the pilosebaceous duct junction which can be classified into two groups (steatocystoma simplex and @DISEASE$).	false
+b27c5a703aa4f6ab4a50663090022cb09743ba92	Histology of these @PHENOTYPICFEATURE$ revealed the typical features of @DISEASE$.	false
+c19ee2c317a0ebf550cb0dfbfaa0b07a7b43b5b0	We describe an infant with @DISEASE$ with the DBT gene mutation who had @PHENOTYPICFEATURE$ and poor appetite as well as abnormal findings upon head magnetic resonance imaging (MRI), plasma amino acid analysis and urine organic acid analysis.	false
+aa8a493e28c0e32f45439af035cd02585467466f	@DISEASE$ patients die within a few months of life due to recurrent metabolic crises and @PHENOTYPICFEATURE$, often precipitated by infection or other stresses.	false
+c1e173b5a45bcb052e0d501f58f69f6c84e52a57	Risk factors for @PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$: a retrospective cohort study.	false
+0c7db8e20ce4aae68f6bdb47299a79077e2cf4e2	[@DISEASE$ with multiple cutaneous @PHENOTYPICFEATURE$].	false
+8cf697f4f67827dcb743f1c72c0fa49a9919a06a	Successful treatment with micafungin of invasive pulmonary aspergillosis in @DISEASE$, with @PHENOTYPICFEATURE$ due to amphotericin B therapy.	false
+47f7202286cbe0d5e816278935b9822f18131d03	No interference was observed in specimens from patients with pernicious anemia, chronic or @DISEASE$, or @PHENOTYPICFEATURE$.	false
+3279a336b596b81d1de036b43a890a549ea7a6f6	[An unusual course of @PHENOTYPICFEATURE$ in a patient with @DISEASE$].	false
+f5b721a5d1c82a919005d5975f1d36f0c1992ac5	@DISEASE$ @PHENOTYPICFEATURE$ about the mouth.	false
+c89c6efed2586b8e3e98daa3517315d05dd1deb7	P = 0.008) compared with @DISEASE$ @PHENOTYPICFEATURE$.	false
+d946bdbbd394d747f825a5efa19b8dd0b8eae3dc	@DISEASE$ (AML) is a complex hematological disease characterized by genetic and @PHENOTYPICFEATURE$.	false
+e6260d28601b643f1eacafa1bb9ad5845c31ec33	A patient with @DISEASE$ (AML) developed septicemia due to Bacillus cereus with subsequent rhabdomyolysis and myoglobinuric @PHENOTYPICFEATURE$.	false
+de556b54d20077f9e055ef924a3f0d30f2e86445	Benign @DISEASE$ @PHENOTYPICFEATURE$: a very unusual neck mass.	false
+3e5f5ecbe01767d56f3143eb27b0f498fa1ea7fd	[@DISEASE$-leukonychia-@PHENOTYPICFEATURE$].	false
+c9d88f8f25ebf58789427c5fd9cc67eee3e0512c	The finding of a single heterozygous mutation at the @DISEASE$ gene in a further eight was strongly suggestive of a critical role for pendrin, the protein product of the PDS gene, in the generation of @PHENOTYPICFEATURE$ in at least 86% (49/57 cases) of patients with this radiological malformation.	false
+9803a49558e0a587656017925a4b921ed864efc6	The finding of a single heterozygous mutation at the PDS gene in a further eight was strongly suggestive of a critical role for pendrin, the protein product of the @DISEASE$ gene, in the generation of @PHENOTYPICFEATURE$ in at least 86% (49/57 cases) of patients with this radiological malformation.	false
+a37fb50ecb67f9a70d8df4f7466832a94ac35b08	Non-syndromic hearing loss associated with @PHENOTYPICFEATURE$ is caused by @DISEASE$ mutations.	false
+0e0034f1ec24e9e4afca396db7985d2b61ead566	Pendred syndrome and non-syndromic recessive deafness associated with @PHENOTYPICFEATURE$ (NSRD with EVA) are caused by mutations in the SLC26A4 (@DISEASE$) gene.	false
+934124e45330b9922809a64be75dd8fc458ba9ea	In the present study, PDS mutation analysis confirmed that @DISEASE$ mutations were present and significantly responsible in 90% of Pendred families, and in 78.1% of families with nonsyndromic hearing loss associated with @PHENOTYPICFEATURE$.	false
+715576172412fe3dec814d1c26d3cadd1d7ef67b	Patients had an @PHENOTYPICFEATURE$ and biallelic @DISEASE$ mutations.	false
+de2e2277f3fcb537355627f527075ba1ff59bf93	Hearing loss associated with @PHENOTYPICFEATURE$ and Mondini dysplasia is caused by splice-site mutation in the @DISEASE$ gene.	false
+ce54261aa53e3341dfae1be2a747b46fd8e406d6	A screen of 20 individuals from the midwestern USA with non-syndromic hearing loss and @PHENOTYPICFEATURE$ identified three people (15%) with @DISEASE$ mutations.	false
+b2595e4c60b3d0ea25ca703b2c07fd6f2ac8992d	Pendred's syndrome with goiter and @PHENOTYPICFEATURE$ diagnosed by @DISEASE$ gene mutation.	false
+d3bacad5077cc5756257b54724289b9cd69150bb	We studied @DISEASE$ mutations in members of four Japanese families, among which five affected members showed bilateral @PHENOTYPICFEATURE$.	false
+cf07e9dc77bcd2c5a072a8441c0e7e7b30f5b3e4	Can magnetic resonance imaging provide clues to the inner ear functional status of @PHENOTYPICFEATURE$ subjects with @DISEASE$ mutation?	false
+ced9743d3fcb375ac38d9a910762b879786259bc	The @DISEASE$ patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in functionally significant neurologic, LTE, anal, and @PHENOTYPICFEATURE$.	false
+240f9b17939f966d3a3d29dfdb36cd09847ab3c1	By reviewing all the MID1-mutated OS patients so far described, we confirmed that @PHENOTYPICFEATURE$ and hypospadias are the most frequent manifestations, being present in almost every @DISEASE$ individual.	false
+e17f63b2c7d9ae8bf2a9c44035c397e0072f018c	@DISEASE$ results from lack of ?-L-fucosidase activity, with accumulation of fucose-linked substrates in the nervous system and viscera leading to progressive motor and @PHENOTYPICFEATURE$, and death.	false
+440ab21391ff2a80132f7dd873650084c9fd6d8e	Ramsay Hunt syndrome (@DISEASE$) is an acute peripheral facial nerve paralysis typically accompanied by @PHENOTYPICFEATURE$ vesicular lesions of the auricular skin.	false
+b99c62d901056b2d0eef772722a9b525f8673ffc	Ramsay Hunt syndrome (@DISEASE$) is the reactivation of herpes zoster in the geniculate ganglion and typically presents the triad of ipsilateral peripheral type facial paralysis, ear pain, and @PHENOTYPICFEATURE$ vesicles in the external auditory canal and auricle.	false
+09d1ea64517b145896f975becb65c3d5f2070906	@DISEASE$ is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and @PHENOTYPICFEATURE$.	false
+ccccf5585f4dc9b3d834aa251b79716f85ed1e44	@DISEASE$, a dominant inherited disorder, is characterized by cholestatic liver disease, associated to interlobular bile duct paucity combined with; cardiac, skeletal, ocular and @PHENOTYPICFEATURE$.	false
+b9832d693999eecf7c624f1709fd30139d00e2fa	@PHENOTYPICFEATURE$ and coproporphyrin abnormalities in the @DISEASE$.	false
+86623dc3bda23713adc91e05e2515b86879b22e0	@DISEASE$ (AGS) is a dominantly inherited disorder characterized by bile duct paucity and resultant liver disease in combination with cardiac, skeletal, ocular, and @PHENOTYPICFEATURE$.	false
+cb5f18f6a791c20917c1817b6d97bdb60d8cedae	@DISEASE$ is an autosomal-dominant disorder characterized by hepatic, cardiac, ocular, skeletal, and @PHENOTYPICFEATURE$.	false
+10eb556e535ac67c8558685f738c858f97a73378	The GABRG2 588 C?>?T polymorphism may decrease the duration of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+2fe278b6586cf72cd57101f5d4592009c8eb95e2	Detailed information on the @PHENOTYPICFEATURE$ types in @DISEASE$ patients and their family members was collected.	false
+b207ff23efed204d3c96a07e49ce6e56c5b02871	Within a brief period of time an effective response was obtained in the case of epilepsy with myoclonicastatic @PHENOTYPICFEATURE$ @DISEASE$ (impulsive petit mal), classical absence and photosensitive epilepsy.	false
+3da5eae4d3ff5508b72371342df2d8f58414797c	Cognitive dysfunction in otherwise healthy siblings of patients with @DISEASE$ and a high heritability support the concept of a genetically determined thalamo-frontocortical network dysfunction, accounting for the cognitive impairment and cognitively triggered "@PHENOTYPICFEATURE$."	false
+e0e07a6267f98295b00642345cbe8e877b02c4ff	There was a subset of @DISEASE$ patients who had complete @PHENOTYPICFEATURE$ control on other AEDs besides valproate.	false
+544d99624fe58dd6e40844439164414e819e237a	We conclude that analyzing the affected subnetworks may provide new insights into understanding @PHENOTYPICFEATURE$ generation, as well as the cognitive deficits observed in @DISEASE$ patients.	false
+271e2870dffe24fa60547cc14304097c8fa14af0	Evidence for independent inheritance of absence and myoclonic seizures in @DISEASE$ families reinforces a model in which combinations of loci confer susceptibility to the component @PHENOTYPICFEATURE$ types of IGE.	false
+a3a8d777280f67baa9752dbf08715438e992da7d	The majority of @DISEASE$ patients responded well not only to sodium valproate in dosages lower than usually prescribed but required very small dosages for maintenance after a @PHENOTYPICFEATURE$ free period of 2 years.	false
+7b3416241a2efe497246b643de2d02d9f429aaa6	All of @DISEASE$ patients were receiving antiepileptic therapy and their @PHENOTYPICFEATURE$ were well controlled.	false
+f2a0f221e09640fe6830f6911694d081946a45fd	@PHENOTYPICFEATURE$ in @DISEASE$ (JME) are dependent on the sleep-wake cycle and precipitant factors, among which sleep deprivation (SD) is one of the most important.	false
+79601fdae761f9b68dfe250033c04547ea725b89	[@DISEASE$ and duplicate @PHENOTYPICFEATURE$].	false
+802b66be2bbf158337a9fd4a341c1c634264ca23	Irreversible @PHENOTYPICFEATURE$ in a patient with @DISEASE$ treated with fludarabine.	false
+7add1ea7302a407d7584b7794134fb1174d43837	Solid @PHENOTYPICFEATURE$ after @DISEASE$.	false
+95d0b0ace73a26335189e7364065ba5cf23bcd4c	Five neoplasms were DLBCL and one @PHENOTYPICFEATURE$ was B-cell small lymphocytic lymphoma/@DISEASE$.	false
+bdca0d3e0062abed716e780110ec0c058c13022b	Five neoplasms were DLBCL and one @PHENOTYPICFEATURE$ was B-cell @DISEASE$/chronic lymphocytic leukemia.	false
+aab5f3f7c98820c829f12f8e495c4bc10507cca9	A 62-year-old African American male with @DISEASE$ and small lymphocytic lymphoma was admitted for tumor lysis syndrome and @PHENOTYPICFEATURE$.	false
+87d95ed947fcb61c90e1a2da315d8ab5314900e7	A 62-year-old African American male with chronic lymphocytic leukemia and @DISEASE$ was admitted for tumor lysis syndrome and @PHENOTYPICFEATURE$.	false
+ddf57401c6e3a646ec197bd0a58db4e66c8fc337	@PHENOTYPICFEATURE$ with granulomatous interstitial nephritis and diffuse leukemic renal infiltration in @DISEASE$.	false
+482a2494b9cba38ef0afeef41938e5f6d41758be	The impact of @DISEASE$ (CLL) @PHENOTYPICFEATURE$ burden on the autologous immune system has already been demonstrated.	false
+f5cfacdbca24dfb3c4ca6771c56eb86d413083a2	The impact of chronic lymphatic leukemia (@DISEASE$) @PHENOTYPICFEATURE$ burden on the autologous immune system has already been demonstrated.	false
+58a9ebf207656c3c2d63a9511e5dd0d9604c3280	[@DISEASE$ accompanied by @PHENOTYPICFEATURE$].	false
+8205e508e52ca598eb2b0c27ef920bdf1c87147a	@DISEASE$ (CLL) in association with glomerulonephritis (GN) and @PHENOTYPICFEATURE$ is a serious problem in terms of therapy.	false
+5848a38c712ecfc9f6505248f8bd1df82fe131fb	Subsequent @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ea4a3fc5afdf375481bb2ff9279f4d68761575af	The newborn had multifocal @DISEASE$ involving the head, trunk, and limbs with @PHENOTYPICFEATURE$ changes demonstrated by imaging.	false
+833157350749f04d7871753d802542d6ad224044	Cutaneous lesions associated with spinal disraphysm are: areas of atrophic skin, @DISEASE$, congenital skin scars, dermal pits, dermal sinuses, dyschromic lesions, hyperpigmented lesions, abnormal pilifications, vascular lesions, subcutaneous lipomas, polipoid lesions simulating tails, neurofibromas, melanocitic nevus and some lesions of @PHENOTYPICFEATURE$ origin.	false
+6d994fa078c440074d06d6471640ccadb9d914ba	Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, @DISEASE$, pigmentary changes following Blaschko lines, bony @PHENOTYPICFEATURE$-like lesions, and others.	false
+1538ac67ae2a9c70acdd4f813e560cb452a7ab1f	@DISEASE$, @PHENOTYPICFEATURE$, epidermolysis bullosa, and ectrodactyly: a new syndrome?	false
+577358c87fab29e64bb9ba175cf5eb74af59c904	These included epidermolysis bullosa (EB) in three, hereditary multiple intestinal atresias (HMIA) in two including a duplication cyst in one of them, esophageal atresia in one, Down's syndrome in one, congenital heart disease in one, @PHENOTYPICFEATURE$ in one and @DISEASE$ (ACC) in one.	false
+a5de4c33ef65c97555c7290c772549e11c1e98ab	@DISEASE$ associated with ipsilateral combined @PHENOTYPICFEATURE$ of retina and retinal pigment epithelium.	false
+53083349a1abc74d2e60f3e876f5fdf49127f141	A 41-year-old Caucasian man with @DISEASE$ on the right side of his body presented to our hospital with a secondary @PHENOTYPICFEATURE$ and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere.	false
+d4c6ae2b94939630da0d11c3864bf5ab9a8554c0	Hypophosphatemia due to the increased excretion of Pi can be observed in various diseases, including Fanconi syndrome, @DISEASE$/osteomalacia, and @PHENOTYPICFEATURE$-induced hypophosphatemic osteomalacia.	false
+ba84565413ddf6710f556c194ae6ae36c75e4204	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, @DISEASE$, Kallmann syndrome, @PHENOTYPICFEATURE$, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+8308ea4863a7e04545ab80dc50067954c8bbd5ff	The cardinal features of the syndrome are @DISEASE$ or anophthalmos, narrow shoulders, other @PHENOTYPICFEATURE$, and dental and urogenital malformations.	false
+741d2c224dd31d1557224de69483e6f49c052c63	This syndrome is different from the Lenz syndrome, which includes @DISEASE$ or anophthalmia with narrow shoulders, double thumbs, @PHENOTYPICFEATURE$ such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.	false
+783564a1d2d50dd2c45e2179ae2d25d1742038d3	This is the case of a 4-year-old male with bilateral @DISEASE$, short stature, @PHENOTYPICFEATURE$, genital anomalies, and maternal exposition to glyphosate during pregnancy.	false
+23563686f44df6d7382169272dca61ee5dd6a703	We describe two unrelated female patients with congenital single focal skin defects, unilateral @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bb9f5248aaa2bd795a11d99252284c34b82f8a58	Lenz microphthalmia syndrome comprises @DISEASE$-anophthalmia with mental retardation, malformed ears and @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+2d4c3feb10fceeb2520b7fa93852cb2b7daaed73	Focal skin defect, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4e9ae33ec3ce4e9b9bf7d8931968fdc872fe0a42	A fetal case of @DISEASE$ and @PHENOTYPICFEATURE$ with abnormal neuronal migration associated with SMOC1 biallelic variants.	false
+17e29acb37595b001e637e8384ddfc8e312ba4e4	Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by @DISEASE$/anophthalmia, @PHENOTYPICFEATURE$, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+b080c2c5f3d02dc1103c068caf722160925aa441	Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked @DISEASE$ disorders characterized by ocular, dental, cardiac and @PHENOTYPICFEATURE$ and mental retardation.	false
+cc9004b28fe2f1d36ca9abeef1e71a3edaec76d0	Cell cycle-related kinase (CCRK) is a conserved regulator of ciliogenesis whose loss in mice leads to a wide range of developmental defects, including exencephaly, preaxial polydactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b8f5e4438844f721e8f23906a4400d2cb1deeeed	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often respiratory failure.	false
+208fc4ba6bdcbf0325cbbe564341e8d590519a79	[Paraneoplastic @PHENOTYPICFEATURE$ syndromes in @DISEASE$: role of TNF-alpha and IL-6?].	false
+a2523c58fb9494ea7ac65f71714fe3004b2588da	When she was 27 years old, she had severe general fatigue, persistent fever, systemic @PHENOTYPICFEATURE$, gingival bleeding, and breathlessness and was diagnosed with @DISEASE$.	false
+d95b6915e3d2d0eb6e69f5ed39f2130226321577	We describe a patient who developed a @PHENOTYPICFEATURE$, histologically compatible with dermatomyositis, which during the course of the disease switched to leukocytoclastic vasculitis, which was accompanied with peripheral blood pancytopenia in the absence of any specific pathological manifestation from the bone marrow three years prior to the diagnosis of @DISEASE$ (AMML).	false
+5f5c0f030469a0df52070cf0dcf4646ace518d0c	Interestingly, 119 proteins were found to differentiate patients with cysts (all?patients with @DISEASE$ and the two ICN with @PHENOTYPICFEATURE$) from ICN without cysts.	false
+0188f01cc2a96729c35aa730ebdd7e1586bb4329	@DISEASE$ (HSS) is a rare disorder characterized primarily by head and @PHENOTYPICFEATURE$, with dental abnormalities also present in 50-80 percent of cases.	false
+cb800ed66675b299d28189c46ce783080741ce4e	We describe a child with extensive @DISEASE$ and a congenital @PHENOTYPICFEATURE$ who developed acute lymphoblastic leukaemia and suggest a possible common aetiology.	false
+99736ba2d78407b784c3b029f898e66b3e669f8e	We have monitored early transcriptional alterations in a Drosophila model for @DISEASE$ (DRPLA) and reported the critical downregulation of the fat @PHENOTYPICFEATURE$ suppressor gene.	false
+e75fae6b0fdadd3a175b8389ebde5705dba183d0	In the other patient (case 2), cerebral ischemia and @PHENOTYPICFEATURE$ developed in the setting of previously documented @DISEASE$ (type II), membranoproliferative glomerulonephritis, and hypocomplementemia.	false
+07a99f754f2a150ded724e0550e99ef726e5ceb2	Other features that were reported in two or more patients include autism spectrum disorder, @DISEASE$, @PHENOTYPICFEATURE$, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms.	false
+1ff65fa870bef474003b4e263d858353db4e1844	He had a history of speech delay, cognitive deficits, @DISEASE$ and a posterior lenticonus @PHENOTYPICFEATURE$ removed at 5 yr of age.	false
+3ba5f28661b1886fc13e1a096e18cd479aea6afd	In common with the 17q22 patients reported previously, the disease phenotype of our patients includes intellectual disability, @DISEASE$, conductive hearing loss, @PHENOTYPICFEATURE$, low set ears, facial dysmorphology and limb anomalies.	false
+e6f61b3c71ddb75ed1e79bffb1c00699808525b1	In common with the 17q22 patients reported previously, the disease phenotype of our patients includes intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, visual impairment, low set ears, facial dysmorphology and limb anomalies.	false
+71e8b4fb0f7e23efeb87656ad8ccf28adef375ee	We estimated prevalence and YLDs for epilepsy, intellectual disability, hearing loss, @PHENOTYPICFEATURE$, autism spectrum disorder, and @DISEASE$.	false
+18628e05abbd68a09928a22e61a05a024e57f8ba	@PHENOTYPICFEATURE$ in @DISEASE$: a preliminary study.	false
+b1b77ce9c234122040b6c97d21c8fec8a579f322	Patients with 9p13 deletion appear to have mild to moderate developmental delay, social and interactive personality, behavior issues such as @DISEASE$, short stature, prominent antihelices, @PHENOTYPICFEATURE$, and precocious/early puberty.	false
+fcaf037dd20ee50b994b0f6d5a1c36c73dfdf013	Independently related to SIB were: lower ability level, not living with a family carer, having @DISEASE$, @PHENOTYPICFEATURE$, and not having Down syndrome.	false
+dcaa0516b35b7bc0aaedbcd315980ad71e5d9240	All fragile X patients had mental retardation, @DISEASE$, hand biting and @PHENOTYPICFEATURE$ contact.	false
+f1e14f705a04bf6c4d1a8819d49544eec1daacc6	At 5?years, 13 of 39 children had a confirmed diagnosis of a neurodevelopmental disorder: eight had @DISEASE$, three autism spectrum disorder, one cerebral palsy and one @PHENOTYPICFEATURE$.	false
+f4edf21f58e1c151d85b3303cb350f93c871c0a0	Extreme prematurity and perinatal asphyxia are common conditions associated with poor neurodevelopmental outcomes including cerebral palsy, mental retardation, hearing or @PHENOTYPICFEATURE$, and @DISEASE$.	false
+46b46d1f7729299253c9024e398057c8fd3c381f	The main purpose of the present study was to determine listening preference for child-directed speech (@DISEASE$) over static (white noise, WN) and dynamic (time-reversed speech, TRS) nonspeech stimuli in both normal-hearing (NH) infants and @PHENOTYPICFEATURE$ infants with cochlear implants (CIs).	false
+cdaededbbdd35bf661a7ff004aadd9bd02fe55f2	To compare the performance of the health-related quality of life-comorbidity index (HRQoL-CI) with the diagnosis-based Charlson, Elixhauser, and combined comorbidity scores and the prescription-based chronic disease score (@DISEASE$) in predicting HRQoL in Agency of Healthcare Research and Quality priority conditions (asthma, breast cancer, diabetes, and @PHENOTYPICFEATURE$).	false
+1de33071833c656d13e738db676bc846b4430ea4	Subsidiary aims were to compare percentage registrations of these children with those of a similar age in the general population and to investigate the involvement of the Hospital Dental Service (HDS) and Community Dental Service (@DISEASE$) in providing dental care for children with @PHENOTYPICFEATURE$.	false
+aa80a9b72b2ebf9bde7c2570028ac36892c4ddb4	@DISEASE$, @PHENOTYPICFEATURE$, and short stature: a further observation.	false
+803663faa09504504cc444127d7ff7fe3c706556	The purpose of this pictorial review is to assess the role of three-dimensional spiral CT in the evaluation of craniofacial abnormalities including craniosynostosis, hypertelorism, @DISEASE$, @PHENOTYPICFEATURE$, encephalocele and trauma in paediatric patients.	false
+dfe60849eda3809d6736afed447a3f98ade4eb1e	The authors present a case of an 11-month-old girl with the @DISEASE$ and the following malformations: ocular hyperterolism, primary telecanthus, cleft nose with absent tip, broad nasal root, complete absence of the left upper lid, and abnormal hair-line implantation in the corresponding frontal region, high arched palate, neurosensorial @PHENOTYPICFEATURE$ and agenesia of the right kidney.	false
+8921a676fed191cde6707c621db4480812733957	@DISEASE$ or frontonasal dysplasia: a case report with associated @PHENOTYPICFEATURE$.	false
+3c58e6ce0304117629145cfd116217a2e94d8cef	Median cleft face syndrome or @DISEASE$: a case report with associated @PHENOTYPICFEATURE$.	false
+6572466ec61345347aa9547bcc188db20dd51abf	The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with @PHENOTYPICFEATURE$, PNH with microcephaly, PNH with @DISEASE$, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+d3f24e9a70a067678690b9564000b36fb67a0373	@DISEASE$ in association with @PHENOTYPICFEATURE$, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.	false
+738acb678197e0ed3dd6862837a334bcb918a620	A premature female infant had the characteristic features of the @DISEASE$ in association with holoprosencephaly, agenesis of the corpus callosum, @PHENOTYPICFEATURE$ and choanal atresia.	false
+fdd4fe876e5850da4af5dc79374a9a82b00a587f	We report generalized dystonia and @PHENOTYPICFEATURE$ in association with @DISEASE$-related disease.	false
+ae92a129b62c436327496d2411056b7947f9aa32	Based on the clinical features and laboratory findings (the overgrowth syndrome, red hair, @PHENOTYPICFEATURE$ and hypocortisolism) the patient was diagnosed as @DISEASE$ and the diagnosis was confirmed by genetic studies.	false
+fdf0271a1c8974691eb09658697ce79a04d2639d	For CDH23, encoding cadherin 23, non-syndromic @DISEASE$ @PHENOTYPICFEATURE$ is associated primarily with missense mutations hypothesised to have residual function.	false
+a9af3ef831a662f2cc610ac2b8000796460f7c95	Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and @DISEASE$ nonsyndromic @PHENOTYPICFEATURE$.	false
+fb9881d17198ecd5494164875a99aadbf75cdd28	Based on clinical features, histological and immunohistochemical profiles, 195 cases of @PHENOTYPICFEATURE$ were divided into three diagnostic categories: definitive synovial sarcoma, probable synovial sarcoma and possible @DISEASE$.	false
+310ba7e965eee4a784ac7ee8676df7e854554b9c	Based on clinical features, histological and immunohistochemical profiles, 195 cases of @PHENOTYPICFEATURE$ were divided into three diagnostic categories: definitive @DISEASE$, probable synovial sarcoma and possible synovial sarcoma.	false
+4c90e642d109e8521c79a201cf151a305ea48b14	Based on clinical features, histological and immunohistochemical profiles, 195 cases of @PHENOTYPICFEATURE$ were divided into three diagnostic categories: definitive synovial sarcoma, probable @DISEASE$ and possible synovial sarcoma.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+f8ef2067c7c5225fea3fd80c3136671b7c0fc91d	Pharyngeal @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+b9b0036fb0fb724ba25385a6c1c1477b755cff3b	The @PHENOTYPICFEATURE$ was resected and diagnosed as primary pleural @DISEASE$.	false
+30626078ed303dbae7d8d802a873f71e1db53066	Consistently positive tumours included solitary fibrous @PHENOTYPICFEATURE$, haemangiopericytoma, schwannoma and @DISEASE$.	false
+8ab3d571b163ea9b86f8187c9e03723715cd10ab	Consistently positive @PHENOTYPICFEATURE$ included solitary fibrous tumour, haemangiopericytoma, schwannoma and @DISEASE$.	false
+d6230e5c5c0aa3cd186ca83577a8a7ca216e3bc9	The @DISEASE$ is a @PHENOTYPICFEATURE$ of the soft tissues.	false
+de2b098be618ffc2727046f38bd5bb4c110d2b63	@DISEASE$ (SS) is a rare @PHENOTYPICFEATURE$.	false
+3ba5059cea03d158261717b1d1ea8da285e51a2a	@DISEASE$ is a rare @PHENOTYPICFEATURE$, of difficult diagnosis.	false
+52432750d6947e8bd6c3e8925c3c9189eb141d0b	@PHENOTYPICFEATURE$ biopsy and molecular study confirmed the diagnosis of @DISEASE$.	false
+d88f7d2e5bf77d6cf9ee73aa619137bba02da454	Primary pleural synovial sarcoma is a malignant @PHENOTYPICFEATURE$ and thought to be more aggressive than @DISEASE$ which occurs in extremities.	false
+a25e8f8925a1e7cee49e04bee030d4b7d773bba8	Primary pleural @DISEASE$ is a malignant @PHENOTYPICFEATURE$ and thought to be more aggressive than synovial sarcoma which occurs in extremities.	false
+e1ef3382a1cd107b03ce7cfea47213e31c5bbb54	On the other hand, @DISEASE$ has additional signs, which distinguish it clearly from Parkinson's disease including supranuclear vertical gaze palsy, myoclonic jerks, pyramidal signs, and @PHENOTYPICFEATURE$.	false
+986ad29cc8f729c1057d242462ab3fc0dc3bc1d5	The A-ZIP/F-1 transgenic mouse is a model of @DISEASE$ with severe insulin resistance, hyperglycemia and @PHENOTYPICFEATURE$.	false
+c474a1bb6ca97b2a6c44385544e640a580ce7b8d	The A-ZIP/F-1 transgenic mouse is a model of @DISEASE$ with severe insulin resistance, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+e8b854a2067e89f524fff5bf83745479dcd7571a	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, @PHENOTYPICFEATURE$, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+89329e83fd110afdc9fe7cbe3c59124e966fede5	The A-ZIP/F-1 phenotype strikingly resembles that of humans with severe @DISEASE$, including the lack of fat, marked insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, and fatty liver.	false
+f6b5c1c715267aef2a9ec2f91aef1cb0a28f0977	The A-ZIP/F-1 phenotype strikingly resembles that of humans with severe @DISEASE$, including the lack of fat, marked insulin resistance and hyperglycemia, @PHENOTYPICFEATURE$, and fatty liver.	false
+7f8e6f6fc680727c15758e169dd40ed5771c6e80	Pathological examination of the @PHENOTYPICFEATURE$ was consistent with the diagnosis of @DISEASE$.	false
+f8c10c78d71fb96086604f8ec7678d66340d6eca	To present a case of @DISEASE$ associated with kidney epithelial @PHENOTYPICFEATURE$.	false
+53a0a5e3cfcf566e0f237117f1647b52452abcb1	Renal epitelial @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+4dce976e4d7626043fa70d883be7e1d5d837a4ff	@DISEASE$ should be included in the differential diagnosis of a pulmonary hilar @PHENOTYPICFEATURE$.	false
+d1c200d102d02ef4c87ec7edbe86261ea6cbd2e7	Eosinophil chemotactic factor in @PHENOTYPICFEATURE$ tissue from a patient with @DISEASE$.	false
+06072fc72fb11fea4017aac3866ed314de620df2	@DISEASE$ presenting with a giant suspensory @PHENOTYPICFEATURE$ and associated with membranoproliferative glomerulonephritis.	false
+0a2be3389c198605a461a855780487bf08bbf356	@DISEASE$: an unusual cause of cervical @PHENOTYPICFEATURE$.	false
+2d310e63453f1cce17a5bd1ba4dda86c50781429	Other conditions, like @DISEASE$, may mimic a @PHENOTYPICFEATURE$ when they present as a parotid mass.	false
+171aae573a13561aa15f01dc9d42855d665ec983	Patients with @DISEASE$ presented with multiple or solitary large @PHENOTYPICFEATURE$ occurring in the thigh, arms as well as parotid gland.	false
+cbe9bc703b6c041f0f1dbc377026b32369eba956	Pranlukast regulates @PHENOTYPICFEATURE$ growth by attenuating IL-4 production in @DISEASE$.	false
+3141256e1e82df418ce0a270b0a359f519ef1116	We here describe a male patient with @PHENOTYPICFEATURE$, speech and language impairment, @DISEASE$, malformed teeth, and oligodontia.	false
+700ce2cfcf2a9128f97c2ee1a5a94496829a9a3c	We here describe a male patient with intellectual disability, speech and @PHENOTYPICFEATURE$, @DISEASE$, malformed teeth, and oligodontia.	false
+dc1fea38f73e524234b7a9ee0d24a0f088e2ddb6	Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, @PHENOTYPICFEATURE$, @DISEASE$ and dental agenesis.	false
+b19d4daeaedd1bc8a9bc21e7d3b9760b756d98ad	Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or @PHENOTYPICFEATURE$, agenesis of corpus callosum, @DISEASE$ and dental agenesis.	false
+c33ac2cad2e32604ff0a714c004ea9826d3ec85e	Monoallelic deletions of 20p12 are variably associated with @DISEASE$, short stature, and @PHENOTYPICFEATURE$.	false
+64f68c212f48eb1a0bcea89aef2c1b7660e88077	All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+62f94f7df7b8943ba116ea9376b0ca3ada15fcce	All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had @PHENOTYPICFEATURE$, cortex anomalies, @DISEASE$ and syndactyly.	false
+3ce51974166b2c3678aa88d82dcd01c69bdce4ec	We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, @DISEASE$, soft tissue @PHENOTYPICFEATURE$ of fingers and toes, and moderate to severe mental retardation.	false
+bb28e4a77f20097c28f51e69b2eeeec4a0e7606c	We describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, @DISEASE$, soft tissue syndactyly of fingers and toes, and moderate to @PHENOTYPICFEATURE$.	false
+2e3344dba3eb44a9b46dcb9164f74934e452f81e	The main clinical features of the patient included @PHENOTYPICFEATURE$, postnatal developmental delay, ventricular septal defect (VSD), and craniofacial anomalies including @DISEASE$, frontal bossing, hypertelorism, and a broad nasal bridge.	false
+f1da861aa31e5d0e44e46b27c4e44271cbc2f1a0	The main clinical features of the patient included severe mental retardation, postnatal @PHENOTYPICFEATURE$, ventricular septal defect (VSD), and craniofacial anomalies including @DISEASE$, frontal bossing, hypertelorism, and a broad nasal bridge.	false
+bf21371d636be342c479d19a14817c7b696a9489	Affected females have malformations of the oral cavity (@DISEASE$, lip and tongue, abnormal dentition, and hamartomas), face (hypertelorism and milia), and digits (syndactyly, @PHENOTYPICFEATURE$, and polydactyly).	false
+4a1fdfaf77a2d0a650a70d0fccf8a8d7959225cb	Affected females have malformations of the oral cavity (@DISEASE$, lip and tongue, abnormal dentition, and hamartomas), face (hypertelorism and milia), and digits (@PHENOTYPICFEATURE$, brachydactyly, and polydactyly).	false
+ff08f1db279871e3d5a743e29ff00cab4155432b	t(11;20)(p15.4;q13.2) presenting with severe mental retardation, @PHENOTYPICFEATURE$, seizures, bilateral sensorineural hearing loss, submucous @DISEASE$, persistent ductus Botalli, unilateral cystic kidney dysplasia and frequent infections.	false
+3021bd956d6ee2992e300384ceba87dbe3ba9463	t(11;20)(p15.4;q13.2) presenting with @PHENOTYPICFEATURE$, muscular hypotonia, seizures, bilateral sensorineural hearing loss, submucous @DISEASE$, persistent ductus Botalli, unilateral cystic kidney dysplasia and frequent infections.	false
+70ca8f5c3782bba4c96ebecbdc66c9f743eff2cc	Unusual presentation of gastroesophageal reflux with @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+fa332bc72a3e4b472bcc4eb73609cd26b358cb2e	Unusual presentation of gastroesophageal reflux with corpus callosum agenesis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5043c38954807a66cf780f5ba14e3396e999ddfa	Dandy-Walker malformation, cranial @PHENOTYPICFEATURE$, ocular abnormalities, and @DISEASE$: Walker-Warburg syndrome?	false
+667f633abe05e3e8fcc7cd5ae5714dafde362cc1	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (@DISEASE$, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+91bd3ceddb2786fb440cbc431e45937cdb25ad0c	@DISEASE$ (NDI) is a rare disease whose complications include polyuria, renal dysfunction, growth disorder and @PHENOTYPICFEATURE$.	false
+03f3b5b3867f93037c5b6eeea100515a23087410	@PHENOTYPICFEATURE$ (MR) is generally considered one of the main complications of congenital @DISEASE$ (NDI).	false
+87f63b0660b320151657fd1fb6214db41b0d80eb	Release of bilateral @PHENOTYPICFEATURE$ (BUO) is associated with @DISEASE$ (NDI) and a reduced abundance of the vasopressin-regulated aquaporins.	false
+d551797ddda27c920981a707b11af5c04665a616	We report a case of @DISEASE$ associated with @PHENOTYPICFEATURE$ caused by ileal leiomyosarcoma in a 32-year-old man.	false
+928e16dbe8f58d391abe8577c67a3cc47e161f61	A case of @DISEASE$ caused by partial bilateral @PHENOTYPICFEATURE$ due to advanced stage ovarian carcinoma.	false
+b0fa4c3bbe57eecfe40dc9d4359b873c5e28efc4	Some endocrine disorders, particularly hypothyroidism, @DISEASE$, and hypoglycemic conditions, are frequently associated with @PHENOTYPICFEATURE$.	false
+328b8a056cacd66663bd5a94ec389403691b80a9	This case suggests that ureteral obstruction may cause an increase in urine output to 8 L/day and that surgical treatment for ureteral obstruction is effective in reducing urine output in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+c10c60199f743eacc181da2a73e598b10daf414b	@DISEASE$ associated with bilateral @PHENOTYPICFEATURE$.	false
+31dc4f9b4b70fda43d76806e102e2d4feee6dc1e	@DISEASE$ associated with @PHENOTYPICFEATURE$ is rare.	false
+54397cba03cf208cac8e88be835821e5ff401fe9	[Familial @DISEASE$ and @PHENOTYPICFEATURE$].	false
+7dc71fb0cd6fc2f6e6e7b110e9c1fc9eb60850a2	Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with @DISEASE$, @PHENOTYPICFEATURE$ and occipital encephalocele, was recently confirmed as autosomal recessive.	false
+c3a44408520660156eb8cd2233a42852d419e1c4	Mutations in the collagen XVIII gene lead to the Knobloch syndrome, which is characterized by high myopia, vitreoretinal degeneration with @DISEASE$, @PHENOTYPICFEATURE$ and occipital encephalocele.	false
+bbf90b3cf7986912c48e30c55e4c8c93f1714d02	Hypomelanosis of Ito and other similar neurocutaneous syndromes are known to be associated with abnormal retinal pigmentation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+909b203e830eb5ddde2935f8e81c21ee52f73e00	To determine the molecular pathology and clinical severity of two pedigrees with a history of early @DISEASE$ and peripheral retinal @PHENOTYPICFEATURE$.	false
+bc96c0f7de7c51e77992654617a3f34160d7f883	Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with @DISEASE$, @PHENOTYPICFEATURE$ and occipital encephalocele.	false
+9cf5d840d092455e0a7c916748797f9091fbe730	Knobloch syndrome is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with @DISEASE$, @PHENOTYPICFEATURE$, and midline encephalocele, mainly in the occipital region.	false
+7046e2c88e910e3f1d4bca1533c0bb0ee80c2074	Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, @DISEASE$, @PHENOTYPICFEATURE$, and cataract.	false
+7ebb582d314aea47956fa2cc2cb0d36e458a756d	Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had @DISEASE$, and 2 showed skeletal abnormalities of the hands, ie, polydactyly or @PHENOTYPICFEATURE$ or missing a hand digit.	false
+fca2cc20c38098c95312ec09e54d6a70269c75bb	Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had @DISEASE$, and 2 showed skeletal @PHENOTYPICFEATURE$, ie, polydactyly or syndactyly or missing a hand digit.	false
+444d5e9301967fe465cb157691582ffcc69f3393	@PHENOTYPICFEATURE$ (p < 0.0001), maculopathy (p = 0.002), @DISEASE$, and retinal neovascularization (p = 0.02) decreased over time, with no difference between genders, concomitant with an increase in the use of immunosuppressive drugs (p = 0.003).	false
+86d42f0fb43ba8ed4c330c1fb02132b47d248d54	To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of @DISEASE$ and visual @PHENOTYPICFEATURE$.	false
+a0d31dca8efcd23b01a4e6e76173cfa3d3e6f1d6	Acute febrile neutrophilic dermatosis (@DISEASE$; Sweet syndrome) is characterized by a constellation of symptoms and findings: fever, neutrophilia, and tender @PHENOTYPICFEATURE$ skin lesions that typically show an upper dermal infiltrate of mature neutrophils.	false
+810551e6da3d4d881204b0245154895fce7045b6	It is important to distinguish this syndrome from that of @DISEASE$ in order to: 1) insure early detection of myopia and monitor for signs of retinal detachment, @PHENOTYPICFEATURE$, and glaucoma; and 2) provide definitive recurrence counseling for families (50% vs 2.3%).	false
+15368b393754e47d5c01a508b7f68f5f81695719	It is important to distinguish this syndrome from that of @DISEASE$ in order to: 1) insure early detection of myopia and monitor for signs of retinal detachment, cataract, and @PHENOTYPICFEATURE$; and 2) provide definitive recurrence counseling for families (50% vs 2.3%).	false
+b72d272fb14d4ef0dfc0cb3610e248c240d57924	@DISEASE$ (OFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, @PHENOTYPICFEATURE$, and mild intellectual disability.	false
+20b3c07fd8b196a636676f4acf59a5fd8e2636b5	These include subacute sclerosing panencephalitis, lead @PHENOTYPICFEATURE$, tuberous sclerosis, Down syndrome, @DISEASE$, and lipofuscinosis.	false
+3bfe59e54927eefe51b411ce36efa961f02caea0	Six of 23 biochemically and morphologically re-examined children got a new and definite diagnosis: 1 myoclonic @PHENOTYPICFEATURE$ with ragged red fibres, 2 carbohydrate-deficient glycoprotein syndrome, 1 neuroborreliosis, 1 @DISEASE$ and 1 leucodystrophy.	false
+71aca267bb13adad3445d3db718d33b5183a01e9	Key manifestations include @PHENOTYPICFEATURE$, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+d2f2be73e639ab832f2603fc35f47dbb944dbf50	According to these clinical features the diagnoses ranged between intermediate autosomal recessive @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fa3b1f26b7786a3d6a51cce8646a091351715846	[Each one case of @DISEASE$ with vestibular and @PHENOTYPICFEATURE$, and multiple cranial nerve palsies].	false
+1b95a16aa5e690dc2721b676bf60046b6b8c4d26	Two cases of @DISEASE$ with rare neurological complications were reported, which are one case with vestibular and @PHENOTYPICFEATURE$, and one with multiple cranial nerve palsies.	false
+99945080a6247737d447c8635c91d2fc72511bb4	F-fluorodeoxyglucose (F-18 FDG) positron emission tomography (PET) and software-fused PET-magnetic resonance imaging (MRI) in @DISEASE$ with @PHENOTYPICFEATURE$.	false
+31115fbcec8effbf81bfe54f993bedca3e44e4b5	Using radio-labelled immunoprecipitation and previously validated ELISAs we examined the presence of myositis specific autoantibodies in 380 patients with juvenile-onset myositis in addition to, 318 patients with @DISEASE$, 21 patients with juvenile-onset SLE, 27 patients with @PHENOTYPICFEATURE$, and 48 healthy children.	false
+d4a6cf6a9d13cf3fb56ee1e336e53a5c6714f84f	@PHENOTYPICFEATURE$ and hematuria in @DISEASE$.	false
+5b6e7b531dad4e136c7b3da396f8a5de87cb0c96	The patients were divided into two groups: those with congenital @PHENOTYPICFEATURE$ alone (fusion or structural defects, or both) and those with cervical anomalies and systemic disorders (dwarfism, @DISEASE$, Down syndrome, and cerebral palsy).	false
+5ac4b7ee31297fe5bfec5013e740b07fa37f2d07	Eight (23%) of 35 children with acute pericardial effusions due to infection or @DISEASE$ (JRA) had associated transient @PHENOTYPICFEATURE$ demonstrated on plain chest radiographs.	false
+012679e3824ad50db0d665b84d4c0cbdf21c18a5	We report the case of a 17-year-old male with a history of liver transplantation at 4 months for @PHENOTYPICFEATURE$ who was initially diagnosed with @DISEASE$ but later developed features of classic hypertrophic osteoarthropathy.	false
+3bbb81bb8e0071f35226d98e2fc2f099074a08b9	One patient with @DISEASE$ and a de novoGNAO1 mutation was found to have an additional de novo @PHENOTYPICFEATURE$ in HESX1 that is associated with optic atrophy.	false
+ddb59970d0e4ecdb7e8f0e4da2a279ef7fabb6cd	Esophageal cancer is one of the most malignant @PHENOTYPICFEATURE$ in digestive system, but the pathogenesis of @DISEASE$ is still unclear.	false
+a7a302de4a63a64f83ceaacaf798baea37d71758	@DISEASE$ is one of the most malignant @PHENOTYPICFEATURE$ in digestive system, but the pathogenesis of esophageal cancer is still unclear.	false
+e13f4a886a7170bd2af6f5b0391f27511b7f4aca	MicroRNAs contribution in @PHENOTYPICFEATURE$ microenvironment of @DISEASE$.	false
+473ef53089b456f26304d7cde7a229426e6d287e	[Metastatic intrapelvic @PHENOTYPICFEATURE$ from @DISEASE$: a case report].	false
+9afba82ed4f696295fcbff245dc7c705e82d1a06	Integrative @PHENOTYPICFEATURE$ board: @DISEASE$.	false
+59d169de7f569919b2a41fc8e03c3e8939305b2a	Immunological studies on @DISEASE$ --cellular immunocompetence and histological responses in main @PHENOTYPICFEATURE$ and regional lymph nodes in esophageal cancer patients.	false
+ee4c6bffdf7d912c34c91acfce237a34ca87d4ca	Immunological studies on esophageal cancer --cellular immunocompetence and histological responses in main @PHENOTYPICFEATURE$ and regional lymph nodes in @DISEASE$ patients.	false
+2578d786715d472bade524b8ee899153778dd2e2	Patient-derived @PHENOTYPICFEATURE$ models of @DISEASE$.	false
+a04a2ccbd9e27415d08e39369546f03748a4b45f	[Multivisceral and extended resection in @PHENOTYPICFEATURE$ surgery--@DISEASE$].	false
+17a329dc9993d0f58da18d474060b3e3cc0253ac	Surgical specimens from @DISEASE$ patients were classified into esophageal cancer tissues, @PHENOTYPICFEATURE$-adjacent tissues and normal esophageal tissues.	false
+bce4034db72302a3b774c9b4137c13e4ce05bd0e	Surgical specimens from esophageal cancer patients were classified into @DISEASE$ tissues, @PHENOTYPICFEATURE$-adjacent tissues and normal esophageal tissues.	false
+e729b8871ceb7ed74f11b16b39a3c6472df87c16	@DISEASE$ in California 1942-1969: the California @PHENOTYPICFEATURE$ Registry experience.	false
+2c92b5a6f4eb5307bf5889b6579c06565c200b91	The @PHENOTYPICFEATURE$ microenvironment in @DISEASE$.	false
+ea55eaf2b1a1e822ebd0c05251e2a9d05ceffae9	Seventy percent of the patients had @DISEASE$ and had greater @PHENOTYPICFEATURE$, lower Z scores for all anthropometric indicators analyzed, lower serum albumin and higher C-reactive protein than those without vitamin C deficiency, but these differences were not statistically significant.	false
+ada71ef4cd400f074dc17079bad3cdaacea82db9	The @DISEASE$ disease scurvy is characterised by musculoskeletal pain and recent epidemiological evidence has indicated an association between suboptimal vitamin C status and spinal @PHENOTYPICFEATURE$.	false
+b2ec02b5201da12e09831176873f414670dc4d17	The liver alpha-tocopherol concentrations were increased by supplemental vitamin C in vitamin E-deficient dietary groups which indicates a sparing or regenerating effect of vitamin C on vitamin E. Fish fed @DISEASE$ diets (-C-E and -C+E) exhibited severe deficiency symptoms, such as scoliosis, lens @PHENOTYPICFEATURE$, anorexia, and haemorrhages.	false
+a37497130d098badd84f67de20e69be2868e897c	Juvenile hyaline fibromatosis (JHF) and @DISEASE$ (ISH) are autosomal recessive conditions characterized by multiple subcutaneous @PHENOTYPICFEATURE$, gingival hypertrophy, joint contractures, and hyaline deposition.	false
+4c0860a45f4dfe8160754002ba7a9dc5732d96f6	@DISEASE$ and @PHENOTYPICFEATURE$ were not present.	false
+7427701fe0aa3ec7015e4da2453849b64414c64f	We report on a patient with unilateral @DISEASE$, @PHENOTYPICFEATURE$, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias.	false
+f041b7c67e26595585d688c886de98d81aa61b0e	Dermatologic findings of @PHENOTYPICFEATURE$-ectodermal defects-@DISEASE$ (AEC) syndrome.	false
+3c422e27ab9e6c31e0fcd746ee9d59c43c57b611	Novel variant in the TP63 gene associated to @PHENOTYPICFEATURE$-ectodermal dysplasia-@DISEASE$ (AEC) syndrome.	false
+14f05ed00c4774a5c4c3c3f5ede5266c4afdfc5e	A clinical diagnosis of @PHENOTYPICFEATURE$-ectodermal defects-@DISEASE$ or Hay-Wells syndrome resulted in TP63 sequence analysis.	false
+2fddad998b79705ff0c179e51b489e1f4be98ead	Cervical @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a0d71fedad95db225af3026e37750146f5143000	@DISEASE$ repair in Hay-Wells/@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting syndrome.	false
+a053c2c36d32acd9c28a9f3ad150c65576c4c02b	Case report: unusual dental morphology in a child with @PHENOTYPICFEATURE$-ectodermal defects-@DISEASE$ (AEC) syndrome.	false
+242ff9a8e3ed40b1030cd12c06f02389dc8cfb89	After surgically correcting deformities in children with @DISEASE$ (CLP), 88% still had @PHENOTYPICFEATURE$,	false
+e1c4dc569faf83e5ea1ad15587bd35e403602bc8	Evaluation of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+826cfe43c1b0a4591f0f17ceb9f6b8605967331c	The present study deals with electrophysiological findings 3 months after the patient fell into an apallic state during the course of @DISEASE$ (CJD), when periodic @PHENOTYPICFEATURE$ synchronizing with periodic synchronous discharge (PSD) began to diminish.	false
+f4eb5a18d4b6a39522dfe6da5e5ee3e2e1a89a4b	The present study deals with electrophysiological findings 3 months after the patient fell into an apallic state during the course of Creutzfeldt-Jacob disease (@DISEASE$), when periodic @PHENOTYPICFEATURE$ synchronizing with periodic synchronous discharge (PSD) began to diminish.	false
+cc7386e7d6d4a814ee1d551f5fa73ab7db3d9b21	Fever, painful @PHENOTYPICFEATURE$ cutaneous plaques, prominent musculoskeletal involvement (@DISEASE$, fasciitis), a sterile pulmonary infiltration and intercurrent proteinuria characterized the clinical course of all-trans retinoic acid-associated Sweet's syndrome.	false
+41a4c14a30712066299421bc5b179ad74dab0e57	[@PHENOTYPICFEATURE$ and @DISEASE$ in idiopathic hypereosinophilic syndrome: case report].	false
+cf9199fad8bf037ac599e189f2151a5e55baa958	Immunohistochemical detection of HCV in nerves and muscles of patients with HCV associated @PHENOTYPICFEATURE$ and @DISEASE$.	false
+84637006b4b149b7211f8c6d372b35a0b2572c7d	AZT can cause bone marrow toxicity or @DISEASE$ with prolonged use, ddC can cause @PHENOTYPICFEATURE$ at high doses, and ddI can cause sporadic pancreatitis and peripheral neuropathy at high doses.	false
+b66a20d1eae94f8af0a9712accdba86120c07efb	AZT can cause bone marrow toxicity or @DISEASE$ with prolonged use, ddC can cause peripheral neuropathy at high doses, and ddI can cause sporadic pancreatitis and @PHENOTYPICFEATURE$ at high doses.	false
+50ca5abce44e76998b3c29c1aac6f5970441789b	Human T-cell lymphotropic virus type 1 @DISEASE$, @PHENOTYPICFEATURE$, and cerebral white matter lesions in the absence of spastic paraparesis.	false
+378840d969dfbcb430aaea16f6ce7ea9954345c8	Idiopathic hypereosinophilic syndrome with eosinophilic @DISEASE$, @PHENOTYPICFEATURE$ and central nervous system involvement.	false
+beea69abf141d4a66460c73e20f637b49d4b3829	The study was conducted on 17 cases of HCV infected patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a86690d33f49d96695313cacdf723a6734602a68	Central nervous system involvement is more frequent in the acute forms of this illness, whilst @DISEASE$ and @PHENOTYPICFEATURE$ are more common in chronic sarcoidosis.	false
+e92803bdc1dcf18131fe6664c087aa5dba269832	Other acute manifestations included pericarditis, pleural effusions, @PHENOTYPICFEATURE$, seizures, @DISEASE$ and peripheral neuropathy.	false
+832b9155288d1b9547f721bac9e693e882b30c88	Other acute manifestations included pericarditis, pleural effusions, skin ulceration, seizures, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4abf82ebb9503351979d0f7a50333eadb6af95f2	Myocarditis successfully treated with intravenous immunoglobulin in a patient with systemic lupus @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e16e05b0e402e78b537f012c148b71473034f128	Characteristic features include cleft palate, @DISEASE$, thymus hypoplasia, @PHENOTYPICFEATURE$, a characteristic facial phenotype and learning difficulties.	false
+f3233503407b1f7803ff4c1045e58a487034c5c0	Characteristic features include cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, hypoparathyroidism, a characteristic facial phenotype and learning difficulties.	false
+518f8bdb2757e7f5e2f2b790538724305985a2e5	Craniometaphyseal dysplasia (@DISEASE$) is a genetic craniotubular bone disorder characterized by early progressive @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones.	false
+387b98b1d2c56adc7f8d370ef4476b0ae9092cc5	Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (@DISEASE$) associated with defects in alpha-DG O-glycosylation, which comprises Walker-Warburg syndrome, Fukuyama cerebral and @PHENOTYPICFEATURE$, or muscle-eye-brain disease.	false
+5eaef33da60aedf46b1fa080cb85a09a48d536a6	Craniometaphyseal dysplasia (@DISEASE$) is an osteochondrodysplasia of unknown etiology characterized by @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.	false
+fa26b3ed0212682e108aec22443715f163cc39c5	Associations among several orofacial dysfunctions such as articulatory speech disorders, craniomandibular disorders (@DISEASE$) and problems in coordinating the orofacial muscles were examined in two groups of Finnish first-graders, i.e. children with and without @PHENOTYPICFEATURE$.	false
+89176ca735c8a5cc87164c9214c4c5657f1623ed	Associations among several orofacial dysfunctions such as articulatory @PHENOTYPICFEATURE$, craniomandibular disorders (@DISEASE$) and problems in coordinating the orofacial muscles were examined in two groups of Finnish first-graders, i.e. children with and without speech disorders.	false
+3be2a12883dd680e51c5a701cf8d5e564c56d5cf	Craniometaphyseal dysplasia (@DISEASE$) is a rare genetic disorder of bone modelling characterised by @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses.	false
+cf9e782ffc08ae9056f50e8eaaec1695332b9e63	We studied 36 patients with @PHENOTYPICFEATURE$ and either mental retardation, structural brain changes or abnormal alpha-dystroglycan immunolabelling, unlinked to any reported @DISEASE$ loci.	false
+c16732cd54a4387b6ba4f529667bf45d72157c1d	Central nervous system manifestations in childhood @PHENOTYPICFEATURE$ (@DISEASE$).	false
+466f177abfa1709a4b93de47a593477c7c698f1e	Craniometaphyseal Dysplasia (@DISEASE$) is a sclerosing osseous dysplasia characterised by @PHENOTYPICFEATURE$ of craniofacial and long bones, resulting in distortion and cranial nerve palsies.	false
+2f65d370a2aeaede8fc67eaf6877c89e5ace3c02	Congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of muscle disorders characterized by early onset @PHENOTYPICFEATURE$ and a variable involvement of the CNS.	false
+ae70386fc92df039ad594896edcd59cf27130034	Craniometaphyseal dysplasia (@DISEASE$) is a rare hereditary disorder characterized by @PHENOTYPICFEATURE$ of the craniofacial bones and flared metaphyses of the long bones.	false
+d8928ab612ae94cb759b971eae6a33578c3aec90	This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, @PHENOTYPICFEATURE$, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	false
+adb01bfa3beed1bfb1ed4e048f1d5b5c697dfd32	@DISEASE$ syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal @PHENOTYPICFEATURE$ in a mother and features of VATER association in her child.	false
+bf05330b86cc043cba496c67f9e9e9bfe9960e24	Recent infection, but not the mechanical factors cough, sneezing, or @PHENOTYPICFEATURE$, was independently associated with @DISEASE$ in multivariate analysis.	false
+42514670515c683166e4b91143ac03390f7a6739	HTN and @DISEASE$ are independent risk factors for the development of intracranial @PHENOTYPICFEATURE$.	false
+2224b35e2c2d58b0204f976c5444d2bb89f3f760	Recent studies have shown @PHENOTYPICFEATURE$ between @DISEASE$ patients with sufficient and insufficient collateral vessels.	false
+7938051c26765d991cc0f2037d033b337b947417	There are conflicting reports regarding the association between coronary artery disease (@DISEASE$) and mild @PHENOTYPICFEATURE$ (MCI).	false
+22aebba67a0ef4fbc814e3cda293734c3e0080dc	Search terms included: ED combined with coronary artery disease (@DISEASE$), metabolic syndrome and @PHENOTYPICFEATURE$, hypogonadism and ED, hypogonadism, ED and mortality.	false
+dd5e02ed4dac2fb292e490f300ee913e41685e07	Multivariate analysis showed HTN and @DISEASE$ are independent risk factors for intracranial @PHENOTYPICFEATURE$.	false
+bb2fd6dd85f64d11cfe7929ffac93bc6733666cc	Chemotherapy treatment may lead to delayed gastric emptying, early satiety, anorexia, @PHENOTYPICFEATURE$, described collectively as the cancer-associated dyspepsia syndrome (@DISEASE$).	false
+4e79b2f8e77a2ae5798ba275c6a512522391ca23	Analysis of the ethnic subgroups revealed a significantly higher risk of @DISEASE$ in the East Asian population carrying this SNP, and the @PHENOTYPICFEATURE$ among the studies regarding the East Asian population was decreased after subgroup analysis.	false
+86efac02dfb9a91244ea3b00906b4416f64e8492	The novel @DISEASE$ tool could be used to measure the volume of not only solid but also part-solid and nonsolid @PHENOTYPICFEATURE$.	false
+1d436e86829008f15d261d98fdd27c056a3f1f1c	Recent studies have shown that intake of n-3 polyunsaturated fatty acids (PUFAs) is associated with reduced risk of @PHENOTYPICFEATURE$ and coronary artery disease (@DISEASE$); however, it is currently unknown whether reduced serum n-3 PUFA is associated with cognitive impairment in patients with CAD.	false
+447016007da1aab4058e4559a02dd6071dac103f	Recent studies have shown that intake of n-3 polyunsaturated fatty acids (PUFAs) is associated with reduced risk of cognitive impairment and coronary artery disease (CAD); however, it is currently unknown whether reduced serum n-3 PUFA is associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+408acfdc3a6b41522e800ed858d25504b393d840	Recent studies have shown that intake of n-3 polyunsaturated fatty acids (PUFAs) is associated with reduced risk of cognitive impairment and coronary artery disease (@DISEASE$); however, it is currently unknown whether reduced serum n-3 PUFA is associated with @PHENOTYPICFEATURE$ in patients with CAD.	false
+d0720123f8aa9324fe9fe7fcd17faa9be6eed2d9	Recent studies have shown that intake of n-3 polyunsaturated fatty acids (PUFAs) is associated with reduced risk of @PHENOTYPICFEATURE$ and coronary artery disease (CAD); however, it is currently unknown whether reduced serum n-3 PUFA is associated with cognitive impairment in patients with @DISEASE$.	false
+99f9130ecac3e92517f6772b28f825739d2d9b2a	@DISEASE$ (SLOS), a multiple congenital anomaly with @PHENOTYPICFEATURE$, is caused by decreased activity of 7-dehydrocholesterol reductase.	false
+5705d42804e29c4b08d219eb1c3aab91f96dbd31	Patients with @DISEASE$, a genetic disorder associated with @PHENOTYPICFEATURE$, are unable to convert 7-dehydrocholesterol to cholesterol.	false
+0549151130021b520ed9215183580f8fbee8cfb3	We report three individuals with profound developmental delay, brain abnormalities, 2-3 @PHENOTYPICFEATURE$ of the toes, and facial dysmorphisms, resembling @DISEASE$, the most common cholesterol biogenesis defect.	false
+e78c3864fc18312836ea8bbcdea52cf77296fdcd	Metatarsal bony @PHENOTYPICFEATURE$ in 2 fetuses with @DISEASE$: An under-recognized part of the clinical spectrum.	false
+4c94172442ed6fa0c931da57177855a1e4523afa	Altered oxysterol levels have been described in patients with numerous neuropsychiatric disorders, including Alzheimer's disease, @PHENOTYPICFEATURE$, Parkinson's disease, X-linked adrenoleukodystrophy, and @DISEASE$.	false
+0b36687664369f10f6fb5979949b87e5c3b7e0e1	Smith-Lemli-Opitz (@DISEASE$) syndrome is a congenital disorder characterized by @PHENOTYPICFEATURE$.	false
+95fd7f35d926b8eae72234e5a1bdf3cadc8d53b9	@DISEASE$ is a recessive autosomal genetic disease characterized by malformations (microcephaly, @PHENOTYPICFEATURE$, holoprosencephaly, and mental retardation), male pseudohermaphroditism, finger anomalies, and failure to thrive.	false
+8a4593e9fee05585bf6c5e58322bd8b71bd78933	The behavioral phenotype of @DISEASE$ demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, @PHENOTYPICFEATURE$, sleep cycle disturbance, self-injurious behavior, and autism spectrum behaviors.	false
+1e25f5853387b42016a64a7200886b49a2f67178	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	false
+de77a51120b82081dee4f3a82c70ec9153bcacc5	Here we show that reduced expression (knockdown) of mouse Zic2 causes neurulation delay, resulting in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e672d2c02528c50434826bfd624ca6114481f84a	Because the Zic2 knockdown mouse is the first mutant with @DISEASE$ and @PHENOTYPICFEATURE$ to survive to the perinatal period, the mouse will promote analyses of not only the neurulation but also the pathogenesis of human HPE.	false
+2888a02ff39539ab60115b49942da68bb2a19f91	We mapped the breakpoints of a de novo 7q inversion in a child with features of a holoprosencephaly spectrum (@DISEASE$) disorder and severe upper limb @PHENOTYPICFEATURE$ with lower limb synpolydactyly.	false
+3aa2f257890e704cbd20958bb76fae515cc1fb05	Virtually all children with @DISEASE$ have some developmental @PHENOTYPICFEATURE$ and the severity correlates with the severity of the brain malformation on neuroimaging.	false
+a4303e912511d21adb37170adf0b76c079703c34	Although @DISEASE$ (PEL) is usually associated with human herpes virus-8/Kaposi sarcoma herpes virus (HHV-8/KSHV) and human immunodeficiency virus (HIV), there are several reports of HHV-8/KSHV and @PHENOTYPICFEATURE$ negative cases, mainly in the setting of immunodeficiency.	false
+faeca16920ba4741ce6ae6afde43a5214bf947a4	When the clinical features and outcome of 11 @DISEASE$ patients were compared with the other three groups of patients affected by NHL, at the onset of the disease, no statistically significant differences were observed in demographic data, CD4 absolute number, @PHENOTYPICFEATURE$ viremia plasma levels, and clinical characteristics.	false
+3eea85a98954061c488f16d1536310f43cc8578d	The @DISEASE$ is a relatively rare condition with autosomal dominant inheritance, characterized by decreased ability to open the mouth (trismus), interphalangeal flexion deformity with wrist extension (pseudocamptodactyly), various @PHENOTYPICFEATURE$, and slightly less than normal stature.	false
+807717521119057d39a751ec8ffbd3c5738893f4	@DISEASE$ (TPS) is a rare autosomal syndrome characterised by the inability to open the mouth fully, pseudocamptodactyly, short stature and @PHENOTYPICFEATURE$.	false
+5afc5a68965e4ec975ebe483bd53ad88a433d916	Common toxic effects include neurological abnormalities; ataxia, @PHENOTYPICFEATURE$, coma, cardiorespiratory problems; dysrhythmias; @DISEASE$; respiratory depression; and eye abnormalities, such as nystagmus and ophthalmoplegia.	false
+0d733863cb11d04ed41c6be046f6101e1ab76049	Common toxic effects include neurological abnormalities; @PHENOTYPICFEATURE$, seizures, coma, cardiorespiratory problems; dysrhythmias; @DISEASE$; respiratory depression; and eye abnormalities, such as nystagmus and ophthalmoplegia.	false
+0767e77755eb194bb37bde7674af6f24847edb9c	Long-QT syndrome (LQTS) may result in syncope, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+93e816401992f1934988d3a6ff32fe6ca5484818	[Prevalence of @PHENOTYPICFEATURE$ in teenagers with dissocial @DISEASE$].	false
+f2c2bcca80163545c82e5eb4639592580a6de032	The authors report a case of an elderly man who presented with @DISEASE$ and myxedema @PHENOTYPICFEATURE$ and who was successfully revived.	false
+2671b2a24439991804321cfe63a8e3fbfc5fdbd1	Diagnosis demanding larger clinical activity for out-patients were: epilepsy/@PHENOTYPICFEATURE$ (38%), mental retardation (17%), headaches (17%), hyperactivity/@DISEASE$ (12%), and cerebral palsy/permanent motor sequela (10%).	false
+5659349f1ec24e4a6c4cd74fec38a3c1e5726a5d	Diagnosis demanding larger clinical activity for out-patients were: epilepsy/seizures (38%), @PHENOTYPICFEATURE$ (17%), headaches (17%), hyperactivity/@DISEASE$ (12%), and cerebral palsy/permanent motor sequela (10%).	false
+44cce4b049455dc43a36d5c51c69a5db1b77a268	It was highest in cases of @PHENOTYPICFEATURE$, psychosis, hyperactivity, and @DISEASE$.	false
+b1b6566b7457db2fdac85af9018b66cc0a84a46e	The violence risk may be increased by the occurrence of comorbidities as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dede8c859f822da32f7bbb99b0958f9463cbcb6a	In some types of pathology (hyperactivity, @DISEASE$, @PHENOTYPICFEATURE$ with agressiveness...), their impact is purely symptomatic, generally sedative.	false
+44dbeb2ab4c6e6bcb565607fd058c8c4295e42fe	Treatment should be individualized to the patient's condition and level of intellectual functioning (e.g., @DISEASE$, @PHENOTYPICFEATURE$).	false
+14a62dbdcdc5937746fd7b6b689aa1bfb45e58b1	Psychopathological risk, particularly in terms of mood disorders, @DISEASE$, and @PHENOTYPICFEATURE$, is analyzed, with the distinction made between "excited" and "inhibited" forms.	false
+f0c0b519dec365dad93255c37d1f967316d73878	A new type of rare bone dysplasia is described, which shares some common features with spondylo-meta-epiphyseal dysplasia: short @PHENOTYPICFEATURE$ calcification type and lethal @DISEASE$.	false
+03091d3eb4ea67a42700e1e235794a0bd18e91ff	Successful chemotherapeutic treatment of @DISEASE$ with continued @PHENOTYPICFEATURE$ presence.	false
+c740abedb0943a2918f501dc1fb5a4b8a3960eac	In the course of the illness, the patient developed the @DISEASE$ associated with arterial hypertension and early puberty, right-handed central hemiparesis, @PHENOTYPICFEATURE$, partial motor aphasia, and a decrease of the intellect.	false
+7766f85e8873902c5b0af14178fbb4db47c09ced	Some specific @PHENOTYPICFEATURE$, such as neuroblastoma and those resulting in the @DISEASE$, can be exceptions.	false
+b5eed08696767e8a96a555438225f99e3799ed1f	This case broadens the etiologic differential diagnosis of @DISEASE$ in addition to the traditional hypothalamic region @PHENOTYPICFEATURE$ location.	false
+1526d7f5ca8b3617330090a206ca1e2825dc6124	Complete MRI scan should be a standard diagnostic procedure in young children with hypothalamic-chiasmatic @PHENOTYPICFEATURE$ especially if presenting with @DISEASE$.	false
+cb515e055ff0bce6d4c19ed8da5ae5c54f952e27	@DISEASE$ (DS) related to hypothalamic/chiasmatic region @PHENOTYPICFEATURE$ has mainly been reported with low-grade glioma.	false
+52acd0ce3f6492eaac435dea1be22de4d409a60b	This curable @PHENOTYPICFEATURE$ should be added in the differential diagnosis of @DISEASE$.	false
+f724fa3d66bf3b706ff83bf9b15af9b5c58f604e	@DISEASE$ or Russell's syndrome is a diencephalic @PHENOTYPICFEATURE$ induced disease, which sets in the first time of life.	false
+3c59370d6bf7b7c9c088650b7453f43640423a4d	@DISEASE$ or Russel's syndrome is a diencephalic @PHENOTYPICFEATURE$ induced disease, which sets in the first three years of life.	false
+e02a259d2d03d73bfb397b90661c4fa398ad9ebe	Treatment of @DISEASE$ with chemotherapy: growth, @PHENOTYPICFEATURE$ response, and long term control.	false
+4a0d1a86174cce844fc9894ff40f9a6e95fd3f60	Mutations within the genes encoding some myosin isoforms have been found to be responsible for @PHENOTYPICFEATURE$ (myosins III and VIIA), deafness (myosins I, IIA, IIIA, VI, VIIA and XV) and @DISEASE$ (beta cardiac myosin heavy chain and both the regulatory and essential light chains).	false
+2edcf777f1a63c937774e9a3356b3d1aac051475	We describe a patient with the unusual association of @PHENOTYPICFEATURE$, bilateral choanal atresia, curly hair, and @DISEASE$.	false
+38b6403cd16240ad2e52d05ea00acea53d81d9c9	Here we report on a newborn with facial dysmorphism, @PHENOTYPICFEATURE$, spiky hair, @DISEASE$ and that are observed with Bamforth syndrome.	false
+05083d509bdd3424b4872e1b0f8cc3fa4729ec98	One girl presented additionally with tetralogy of Fallot and the other with @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+297cb737ac041badadb4e50e65cc09ba0022fbd6	A novel loss-of-function mutation in TTF-2 is associated with @DISEASE$, thyroid agenesis and @PHENOTYPICFEATURE$.	false
+3c6baff812a8c1606a8afd706769ba3d449ad480	Syndromic association of @PHENOTYPICFEATURE$, bilateral choanal atresia, curly hair, and @DISEASE$.	false
+84e3ebbe1885f8eaa47eec51c3820d1f33d5e3a1	Craniofacial anomalies, severe @PHENOTYPICFEATURE$, psychomotor and growth delay in a child with @DISEASE$.	false
+7ef25f31d9f16d2f9a0f327009de6362a8104185	@DISEASE$, spiky hair, and @PHENOTYPICFEATURE$.	false
+7f9cc7a846e792da9cd9504d2064f705b2985c24	Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and @PHENOTYPICFEATURE$, @DISEASE$, or isolated cleft palate.	false
+bd9cfa50b7f51f9b53447f9f4396bcdf5cfdcefd	Genetic analysis of TTF-2 gene in children with @DISEASE$ and @PHENOTYPICFEATURE$, congenital hypothyroidism, or isolated cleft palate.	false
+3cc7329f2aa457e4f29c5589c0dbcb9cc353aee4	Other features included @PHENOTYPICFEATURE$, malabsorption, joint hypermobility and dislocation, @DISEASE$, idiopathic thrombocytopenic purpura, and in one patient, autoimmune hemolytic anemia and hypogammaglobulinemia.	false
+121601bf2f531160f58399fb3ce72d0944ec4bc5	Increased prevalence of renal and @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+b783807adfea7d9f934879347500e6095bb7fbe6	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and @PHENOTYPICFEATURE$, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with @DISEASE$ (LKS) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+6ac82655abd4935ebedd37b3371e36e84ca8079a	We found that (1) neural generators of synchronous EEG oscillations--including tonic background slow waves and phasic "arousal" events (sleep EEG transients such as sleep spindles and k-complexes)--combine to promote electrographic seizure propagation during NREM and @PHENOTYPICFEATURE$, and antigravity muscle tone permits seizure-related movement; (2) neural generators of asynchronous neuronal discharge patterns reduce electrographic seizures during alert waking and REM sleep, and skeletal motor paralysis blocks seizure-related movement during REM; (3) there are a number of similarities between amygdala-kindled kittens and children with Landau-Kleffner Syndrome (@DISEASE$) that suggest a link among seizures, sleep disorders, and behavioral abnormalities/regression.	false
+9129482e4d3cd4da6c9e75fc478541e91b767a11	The Density Test provides a valuable clue in the differentiation of @DISEASE$ from @PHENOTYPICFEATURE$.	false
+f43ea832f14bca97dce7580934b37d91ba61669f	We investigated the secretion of chromogranin A by peptide hormone-producing human @PHENOTYPICFEATURE$ in studies of patients with the following neoplastic disorders: pheochromocytoma, parathyroid adenoma, @DISEASE$, medullary thyroid carcinoma, thyroidal C-cell hyperplasia, carcinoid tumor, oat-cell lung carcinoma, pancreatic islet-cell tumor, and aortic-body tumor.	false
+e3c40e03abf639114ab111f23236761746797129	High-resolution thyroid and parathyroid ultrasonography can play an integral part in the diagnosis and management of patients with clinically undifferentiated cervical masses, thyroid carcinomas or adenomas, and @DISEASE$ or @PHENOTYPICFEATURE$.	false
+914f2f33559d2b74783af3da831097b717c6c1d8	@DISEASE$ (Caffey disease) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+4e5a1193fdbf6430a7b60189555c7f821cfc026e	Infantile cortical hyperostosis (@DISEASE$) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+0052658fd909ddd76870d62bd3afd5d3e7053c81	Prenatal cortical @PHENOTYPICFEATURE$ (@DISEASE$).	false
+01477b4148a11590be27b1fa5d91a24c8025b9c9	[Neonatal cortical @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+e57d50cc5b9ac8f32c9bc5ffa016151ae952fa03	Antenatal onset of cortical @PHENOTYPICFEATURE$ (@DISEASE$): case report and review.	false
+563c67ea24088338102b88aa9b67e5b8257320f6	Caffey disease, also known as @DISEASE$, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and @PHENOTYPICFEATURE$ of the outer cortical surface in early infancy.	false
+f04021a4d3113b3eca53c8e625bbe88581867785	@DISEASE$, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and @PHENOTYPICFEATURE$ of the outer cortical surface in early infancy.	false
+1db7e4045a63cbfd06658a2100dbf7f8f9278fa0	Face swelling in infants may have several causes including @DISEASE$ (Caffey disease), an inflammatory process with swelling of soft tissues and periosteal @PHENOTYPICFEATURE$ of some bones.	false
+c993673885d649ea48fbb1cccdb3ba1e84f2114f	Face swelling in infants may have several causes including infantile cortical hyperostosis (@DISEASE$), an inflammatory process with swelling of soft tissues and periosteal @PHENOTYPICFEATURE$ of some bones.	false
+fdd5506c954b9adc1757e11c14a5797a7697fef2	Prenatal cortical @PHENOTYPICFEATURE$ (@DISEASE$) with Down syndrome.	false
+914f2f33559d2b74783af3da831097b717c6c1d8	@DISEASE$ (Caffey disease) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+4e5a1193fdbf6430a7b60189555c7f821cfc026e	Infantile cortical hyperostosis (@DISEASE$) is characterized by radiological evidence of cortical @PHENOTYPICFEATURE$, soft tissue swellings, fever and irritability.	false
+926c148c305fb2681635ed80f5c6c82ae566ebd0	Cortical @PHENOTYPICFEATURE$ are usually most prominent in the lower extremities in cases of familial @DISEASE$.	false
+20951721b6a36aeca40d7f60d2e929a0a9197dd6	Prenatal @DISEASE$ (prenatal cortical @PHENOTYPICFEATURE$): severe forms with favorable outcome.	false
+5136e55d00ed7e8f5cbcc16ba74d5bb141f3bee6	@DISEASE$ with posterior column degeneration and @PHENOTYPICFEATURE$: a case report.	false
+e757009652af8cd3b370bfc972a6a9851e6fcec8	@DISEASE$ is known to be associated with various @PHENOTYPICFEATURE$; however, hematological findings in MOPD II patients have not been previously reported.	false
+06dcc9d910d9eed890be05c82b190ba60ba88691	Severe, early onset, bilateral @PHENOTYPICFEATURE$ with severe myopia and astigmatism may be associated with @DISEASE$.	false
+6524e94043305259c43a683af5d8964ca8e5db64	ASAH1 variants cause both the severe and early-onset @DISEASE$ and rare cases of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by childhood onset of proximal muscle weakness and atrophy due to spinal @PHENOTYPICFEATURE$ followed by occurrence of severe and intractable myoclonic seizures and death in the teenage years.	false
+6915af3b68baac87fe4106c7402b07ab02d6ea99	[Clinical characteristics and prognosis of @DISEASE$ in patients with @PHENOTYPICFEATURE$--renal involvement and therapy].	false
+d46da7c0c6b7583442ca6dc50e767e5b9dbfa63d	@PHENOTYPICFEATURE$ and nephrotic syndrome associated with gastrointestinal stromal tumour (GIST)-a rare cause of @DISEASE$.	false
+aaf11490e7b8d738c0243b77fc943b517f7f2a68	Renal failure and nephrotic syndrome associated with gastrointestinal stromal @PHENOTYPICFEATURE$ (GIST)-a rare cause of @DISEASE$.	false
+fbb469130e3b29c01f7b008ee8e1ce4092047c3b	Giant cell arteritis "causing" @DISEASE$ with rapid @PHENOTYPICFEATURE$.	false
+1d163f6b222b4a41621f3c8c81af50061b16e2ef	Renal @DISEASE$ was the predominant cause of @PHENOTYPICFEATURE$ in 50% of patients.	false
+38850e86114ab9d99375bf9d0b5c66bc56f02076	Severe cases suffers from deafness, meningitis, articular @PHENOTYPICFEATURE$ and @DISEASE$.	false
+be0ba351bfb40bc7cb17a3281c2cf8ed49e64635	@DISEASE$ has been thought to have a poor prognosis, with progression to @PHENOTYPICFEATURE$.	false
+27c91eb7ba57a5dacb3c9059ea13b5c6b0f282cf	Secondary amyloidosis (@DISEASE$) is a well known cause of nephrotic syndrome and @PHENOTYPICFEATURE$.	false
+4fb7d1cec8b06d4ed968b9d7796bbb9cdf307417	@DISEASE$ (AA amyloidosis) is a well known cause of nephrotic syndrome and @PHENOTYPICFEATURE$.	false
+fbebda17264aaed1d18286d86b735235642122b4	In @DISEASE$, eprosidate slows the rate of progression of @PHENOTYPICFEATURE$.	false
+2491177a0f2c6e40539c4c3ab3fdd0015566d3a4	Cholestasis and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+d817ef017b073713968fb63903e23e2174c32659	@DISEASE$ and @PHENOTYPICFEATURE$ in a captive California sea lion (Zalophus californianus).	false
+b6904db947e35ccd6c9819f92527ee45ab10644a	The Leopard Syndrome, also known as multiple lentigines syndrome, @DISEASE$, lentiginosis profusa syndrome and the cardiocutaneous syndrome, refers to an inherited @PHENOTYPICFEATURE$, often associated with cardiomyopathy.	false
+8fa457a7c5d6106a48f276e8bafd6ac2b492bee7	The Leopard Syndrome, also known as multiple lentigines syndrome, progressive cardiomyopathic lentiginosis, @DISEASE$ and the cardiocutaneous syndrome, refers to an inherited @PHENOTYPICFEATURE$, often associated with cardiomyopathy.	false
+bb7e05bf2ac10aa81159733717847c20b02cd39d	The Leopard Syndrome, also known as multiple lentigines syndrome, progressive cardiomyopathic lentiginosis, lentiginosis profusa syndrome and the @DISEASE$, refers to an inherited @PHENOTYPICFEATURE$, often associated with cardiomyopathy.	false
+92fbc8f74a63924c7b07bda03e81809a0b30e679	Zebrafish injected with Shp2Thr468Met mRNA showed cardiac @PHENOTYPICFEATURE$, whereas those depleted of EphA2b showed less phenotype, suggesting that EphA2 might partly account for the phenotype of @DISEASE$.	false
+8a806fb73a7ce35074da21afcc6bc7edeb3e8695	The hyperimmunoglobulinaemia D and periodic fever (hyper-@DISEASE$) syndrome is typified by recurrent unpredictable febrile attacks with @PHENOTYPICFEATURE$, joint involvement (arthralgias/arthritis), headache, skin lesions and a polyclonal elevation of serum IgD (> 100 U mL-1).	false
+5371a031158829cd594f8ad8249fc2bd3fbb680f	We further consider some conditions associated with metabolic syndrome as possible causes of Tycho Brahe's final symptoms (urinary retention, renal failure and @PHENOTYPICFEATURE$), including diabetes, alcoholic ketoacidosis and @DISEASE$.	false
+9aa7478c995407062b39a4a80c5288eeecabe4b5	Injection of BTX appears to have a positive therapeutic effect in multiple urological conditions, including detrusor hyperreflexia and detrusor external sphincter dyssynergia, and nonneurogenic conditions such as pelvic floor @PHENOTYPICFEATURE$, refractory overactive bladder and, possibly, @DISEASE$.	false
+c859a9220f8774be615fe188a0899cb57f70c9f5	The use of this pluripotential agent has extended to a plethora of conditions including: focal dystonia; @PHENOTYPICFEATURE$; inappropriate contraction in most sphincters of the body such as those associated with spasmodic dysphonia, esophageal achalasia, chronic anal fissure, and vaginismus; eye movement disorders; other hyperkinetic disorders including tics and tremors; autonomic disorders such as hyperhidrosis; genitourinary disorders such as overactive and neurogenic bladder, non-bacterial prostatitis and @DISEASE$; and aesthetically undesirable hyperfunctional facial lines.	false
+aa3d32dc62d50cb7f69efb90f2e1eef02f1e6bb4	Bilateral @PHENOTYPICFEATURE$ revealing a @DISEASE$: a case report and review of the literature.	false
+e56e4fa7e1aebcc5c1ed4ac44c0ec4142e316b63	@PHENOTYPICFEATURE$ is a widely accepted biological signature of prostatic diseases, including prostate cancer and @DISEASE$.	false
+80de69d64fcb4086f46024260e518c6c37bd23e6	Two patients were excluded for confounding variables, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c065326ba9bc74c57d17857490c590c5acf31eb6	His medical history included atrial fibrillation, peripheral vascular disease, @DISEASE$, and chronic @PHENOTYPICFEATURE$ secondary to antibiotic therapy in the 1970s.	false
+5811480ed23376a97282d9391b9dd3853531216f	A number of congenital and acquired urological anomalies including posterior urethral valves, @DISEASE$, and neurogenic bladder secondary to @PHENOTYPICFEATURE$/spinal cord injury can result in pathologic tissue remodeling leading to impaired compliance and reduced capacity(1).	false
+4c0185b06867a2146bb13b07f46e98ec30772b5c	Conclusion Urethral catheterization adversely impacts uroflow in patients with @DISEASE$, female stress incontinence, spinal injury or @PHENOTYPICFEATURE$.	false
+bab138fe5bb55a1c67e550150effa8ada48d895a	EJC components have been implicated in several developmental disorders including TAR syndrome, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+160f739c790662900fad62ba7f7b944aac7bef68	Improved management of @DISEASE$ patients has resulted in better five-year survival for rectal cancer compared with @PHENOTYPICFEATURE$.	false
+afb1090c725767f61d5da7d773bb12cddd042648	Somatic mutation of a candidate tumour suppressor MGA gene and its @PHENOTYPICFEATURE$ heterogeneity in @DISEASE$.	false
+8c605122396722038508acc7fe0188e70c3f9b8d	Results from the recent meta-analysis suggested a moderate favorable effect of coffee consumption on @DISEASE$ risk, especially for @PHENOTYPICFEATURE$.	false
+cef1f20afdf2ed42062101d0c5cf221eec81ea27	Multivariable logistic regressions were conducted to examine knowledge deficit explanations for responding DKPR to @PHENOTYPICFEATURE$ risk perception questions (adjusting for demographics and family @DISEASE$ history).	false
+f2eed85c963ddb99da1ec33db8fe307619137ff8	Future studies will determine whether strategies aimed at preventing bone loss can also improve outcomes and survival in @DISEASE$ @PHENOTYPICFEATURE$.	false
+0787c26fd508045681a52fdfd90d04d8e8f17a75	Impact of KRAS, BRAF, PIK3CA, TP53 status and intraindividual @PHENOTYPICFEATURE$ heterogeneity on outcome after liver resection for @DISEASE$ metastases.	false
+32fe38da558912f2b9efc330fa10c5c62e5fd4ae	Symptoms related to @DISEASE$ were the most expensive to investigate with @PHENOTYPICFEATURE$/dizziness and tiredness/fatigue examined separately.	false
+bb15a627a65cd3901aad3c78151334bb4a8011e2	Deep @PHENOTYPICFEATURE$ with radiofrequencies in patients with liver metastases from @DISEASE$.	false
+b4ffee9c0e21cd91ef3d22f47c10c91ca7c44d85	Targeting HER2 in @DISEASE$: The landscape of amplification and short variant @PHENOTYPICFEATURE$ in ERBB2 and ERBB3.	false
+969913879d34a791e2d04dcf7f41d258afbe1b1e	Predominant histologies were @DISEASE$ (n?=?213 pts.; 300 lesions) and @PHENOTYPICFEATURE$ (n?=?57; 81 lesions).	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+593a8216ceddc035a32fae4c8cbce5fcae991f58	Retinal @PHENOTYPICFEATURE$ were studied in 194 patients with @DISEASE$ (SLE).	false
+478e9a95b6d6baaf406fc2e8d5b8df105c168cdf	Bilateral calcaneal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+bbc695d8976b7bf98c65a34591bccfe99f27b3fa	Ileal ureteral substitution for the treatment of bilateral @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+ab24630f9b3bfe145a3e29ecc6aeb4c71c52ee8d	Ten patients with @DISEASE$ @PHENOTYPICFEATURE$ were studied.	false
+04793bfa209a3a3fa571d42b35ea2e0cf2749058	Bilateral @PHENOTYPICFEATURE$ of the navicular and medial cuneiform in a patient with @DISEASE$: a case report.	false
+784ad72f3eba1e9898eecc0b23ee399c8ebf309a	Hypothermic myxedema @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c1633717d94784d9626b4c9567e9645640316c3e	Immune-mediated cerebellar ataxias include cerebellar ataxia associated with anti-GAD antibodies, the cerebellar type of Hashimoto's encephalopathy, primary autoimmune @PHENOTYPICFEATURE$, gluten ataxia, Miller Fisher syndrome, ataxia associated with @DISEASE$, and paraneoplastic cerebellar degeneration.	false
+6bd9beead9a60ea2f1e77b096e9e62dfc6674546	Immune-mediated cerebellar ataxias include @PHENOTYPICFEATURE$ associated with anti-GAD antibodies, the cerebellar type of Hashimoto's encephalopathy, primary autoimmune cerebellar ataxia, gluten ataxia, Miller Fisher syndrome, ataxia associated with @DISEASE$, and paraneoplastic cerebellar degeneration.	false
+4c988cad9ed3e59c6289c04f864ab309f51b196d	Immune-mediated cerebellar ataxias include cerebellar ataxia associated with anti-GAD antibodies, the cerebellar type of Hashimoto's encephalopathy, primary autoimmune cerebellar ataxia, gluten @PHENOTYPICFEATURE$, Miller Fisher syndrome, ataxia associated with @DISEASE$, and paraneoplastic cerebellar degeneration.	false
+c151da7e7606a376e29a3613733e7cedd5eb1c20	Immune-mediated cerebellar ataxias include cerebellar ataxia associated with anti-GAD antibodies, the cerebellar type of Hashimoto's @PHENOTYPICFEATURE$, primary autoimmune cerebellar ataxia, gluten ataxia, Miller Fisher syndrome, ataxia associated with @DISEASE$, and paraneoplastic cerebellar degeneration.	false
+fce65d8c714b1d0754d24f10bfb92464a14c8a31	Immune-mediated cerebellar ataxias include cerebellar ataxia associated with anti-GAD antibodies, the cerebellar type of Hashimoto's encephalopathy, primary autoimmune cerebellar ataxia, gluten ataxia, Miller Fisher syndrome, @PHENOTYPICFEATURE$ associated with @DISEASE$, and paraneoplastic cerebellar degeneration.	false
+3a02c9da46c38b4790b5955a3270391fbdefc3df	@PHENOTYPICFEATURE$ of the talus, scaphoid, and metatarsal head in @DISEASE$.	false
+2d397e9af46542153c102670491be6d63691ab2b	Additionally, we conclude that @PHENOTYPICFEATURE$ might be more common in @DISEASE$ patients than previously suggested.	false
+f0a57142e036f132570e54135368249ac4696848	@PHENOTYPICFEATURE$ is already seen when after @DISEASE$ the diagnosis is confirmed, but NBS leads to a diagnosis before respiratory symptoms have developed.	false
+5f65bfba5b8e733cc4ec9d818849d8bb5c560552	@PHENOTYPICFEATURE$ is already seen when after NBS the diagnosis is confirmed, but @DISEASE$ leads to a diagnosis before respiratory symptoms have developed.	false
+2648cdca14ced4c66adad5f5f70a72eea097b076	However, earlier diagnosis through @DISEASE$ might further minimize and prevent @PHENOTYPICFEATURE$, by reducing the duration of symptoms before treatment.	false
+a630a8b02762bce7d45416f14d43d3c24c10d353	@DISEASE$ (NBS) is a chromosomal-instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+ef4b575a383412fa9f3a3741b38cc8625a2e2298	Nijmegen breakage syndrome (@DISEASE$) is a chromosomal-instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+bfd98dbd9b617c4f56252b383d51d5951e39cef5	@DISEASE$ is characterized by microcephaly, @PHENOTYPICFEATURE$, immunodeficiency, and cancer predisposition.	false
+a630a8b02762bce7d45416f14d43d3c24c10d353	@DISEASE$ (NBS) is a chromosomal-instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+ef4b575a383412fa9f3a3741b38cc8625a2e2298	Nijmegen breakage syndrome (@DISEASE$) is a chromosomal-instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+29409365b8876a7a7c82e4ff3d307b32f8375358	The @DISEASE$ (NBS; MIM 251260), is an autosomal recessive disease characterized by microcephaly, @PHENOTYPICFEATURE$, immuno-deficiency and cancer predisposition.	false
+34c5ed0ef249446680f1d483d414be3879cde81a	The Nijmegen breakage syndrome (@DISEASE$; MIM 251260), is an autosomal recessive disease characterized by microcephaly, @PHENOTYPICFEATURE$, immuno-deficiency and cancer predisposition.	false
+86743aef84b495d1ada146ce7daa58ea6a9ee29b	Nijmegen breakage syndrome (@DISEASE$) is a chromosomal instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+559fd0f136932a7f2a6996bc06388afe855ffdea	@DISEASE$ (NBS) is a chromosomal instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+e58244c46538c78648dd2b942c0e176f2245f636	@DISEASE$ (NBS) is a severe chromosomal instability disorder characterized by microcephaly, @PHENOTYPICFEATURE$, immune deficiency, and predisposition for malignancy.	false
+d85b4cbe479f0904f36d58c1386016053c16e01e	Nijmegen breakage syndrome (@DISEASE$) is a severe chromosomal instability disorder characterized by microcephaly, @PHENOTYPICFEATURE$, immune deficiency, and predisposition for malignancy.	false
+86743aef84b495d1ada146ce7daa58ea6a9ee29b	Nijmegen breakage syndrome (@DISEASE$) is a chromosomal instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+559fd0f136932a7f2a6996bc06388afe855ffdea	@DISEASE$ (NBS) is a chromosomal instability syndrome associated with cancer predisposition, radiosensitivity, microcephaly, and @PHENOTYPICFEATURE$.	false
+b2ea79e815d33bc842de9a923f42bd058b9462b4	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+977c17ac8380b46069e29f85b798c507ceeae68d	GLUT-1 deficiency syndrome (@DISEASE$) is a disorder of cerebral glucose transport associated with early infantile epilepsy and @PHENOTYPICFEATURE$.	false
+eff6f52bf23e819b10688a7c05f154f0dc22af0e	@DISEASE$ (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and @PHENOTYPICFEATURE$.	false
+4ab484a88d69a917474040bb7d0f9ac87af0ce92	Cerebral 18F-fluorodeoxyglucose positron emission tomography in 14 patients with @PHENOTYPICFEATURE$, developmental delay, seizures, and mutations of the glucose transporter Glut1 (@DISEASE$) showed distinct abnormalities.	false
+71e079c63b6defeea9f5cd9f063b4e0f8eacd930	@DISEASE$ is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, @PHENOTYPICFEATURE$ and seizures.	false
+8463682120b43307ab8d3404564790a4bc8a395a	We report a girl with confirmed LAMB2 mutation who presented with early onset @DISEASE$ (CNS) with renal failure and ocular findings of bilateral microcoria, persistent hyperplastic primary vitreous, right microphtalmia and left eye @PHENOTYPICFEATURE$.	false
+60f4ea8830390bf65510d5c9f599c8a9ea89b980	A case of @DISEASE$ with diffuse mesangial sclerosis and bilateral @PHENOTYPICFEATURE$ without other ocular anomalies is presented.	false
+4a5e1a7f6ec51d1bb8f1d2bc023d98aec870a730	This report describes a family with three affected members who demonstrate a composite of types III and V. Their features include progressive @DISEASE$, dementia, @PHENOTYPICFEATURE$ with retinal pigmentation, dysarthria, ophthalmoplegia, and chorea.	false
+341e09f14e5c94d3a69648c612cbe8c3e45831fa	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder with symptoms of @DISEASE$, neuropathy, pyramidal sign, finger and @PHENOTYPICFEATURE$, and hypermyelination of retinal nerve fibers.	false
+147d9a3a1f19fb8d3e7752fcd27772982a6d282f	A 50 year old woman presented with a subacute onset of vertigo and diplopia followed by an encephalopathy with confusion, @DISEASE$, myoclonus, and multiple branch retinal arteriolar occlusions and unilateral @PHENOTYPICFEATURE$.	false
+362fadfb1b1bb74d1fc9f95c7e57e0bc5de5e684	This disease is a neurodegenerative disorder characterized by early-onset @DISEASE$, dysarthria, nystagmus, distal muscle wasting, finger and @PHENOTYPICFEATURE$, and retinal hypermyelination.	false
+61e4c9089e3d789e315f9a0a409e0228b4a09155	Two thirds of the patients with Friedreich's ataxia had some degree of @PHENOTYPICFEATURE$ and an abnormal VER, whereas only three of the 17 patients with @DISEASE$ showed abnormalities.	false
+07208715e54101abdd117219eceed7d48f5a908c	The propositus, a 28-year-old woman with congenital partial lipodystrophy and @PHENOTYPICFEATURE$, presented with a @DISEASE$ gait and lower extremity paresthesiae at age 18. Laboratory investigation revealed a type V hyperlipidemia pattern, insulin resistance, and high alpha-tocopherol levels.	false
+2652089a21f0f7fc4e95c7d8f8be73ed9c27df54	@DISEASE$ (NMIHBA) (OMIM #617481) is an autosomal recessive disease characterized by progressive microcephaly, plagiocephaly, hypotonia, spastic quadriparesis, global developmental delay, @PHENOTYPICFEATURE$, optic features and abnormal brain magnetic resonance imaging (MRI).	false
+0ab43ab48e76bf986e553c1980ffc6db81f74e34	Extraoral manifestations include @PHENOTYPICFEATURE$, popliteal webs, accessory nipples, congenital heart defects, and @DISEASE$.	false
+98f1bbc4ae0437419db720e44d089101afd78ec5	Dysregulation of BMP10 has been observed in several diseases, including @PHENOTYPICFEATURE$ cardiac hypertrophy, @DISEASE$ and blood vessel formation.	false
+685319fca5350b52e4d95d92e2dad82472861ce2	Congenital muscular dystrophy with @PHENOTYPICFEATURE$: association with @DISEASE$.	false
+6ef3d1144878040bad31b96750796bf9736a78b9	A Japanese male patient presented with sensory deafness, blue irises, and anosmia, but no hair/skin hypopigmentation, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+9f3597c7b193331207acda65c4010e3a677cd2a4	We describe a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bd00ded0f8c5500578c675ab2d680a4906d0df2f	There are many other associated minor clinical signs including diabetes, blood @PHENOTYPICFEATURE$, congenital cardiopathy or @DISEASE$.	false
+1168756f1f1ec5947661426ee26d903cf203f802	One child had duodenal atresia and @PHENOTYPICFEATURE$, one with intestinal malrotation and the other with a rare combination of intestinal malrotaion and total colonic @DISEASE$.	false
+e0b188442e13e682a5f9c31d574d139997fb6ecb	This region of 20p has not yet been implicated in @DISEASE$ or @PHENOTYPICFEATURE$.	false
+484f8016df9401abe335939945722fbccbc95550	We report on a baby girl with congenital muscular dystrophy (CMD) with @PHENOTYPICFEATURE$ ("CMD Plus" condition), who also had @DISEASE$.	false
+74dfcba47962f10ca49a1c4c83c26cda61290c55	Intersitial deletion of 20p: new candidate region for @DISEASE$ and @PHENOTYPICFEATURE$?	false
+4e6ed2ab073cf1761ecde483899efc7c6a2ac98f	Reported neurological features of @DISEASE$ include ischaemic and haemorrhagic stroke, subdural effusion, seizures, neuropathy, transverse myelitis, and @PHENOTYPICFEATURE$.	false
+b01af0f091c132fecc12e9890305710c23f15291	Posterior subcapsular cataract may be associated with @DISEASE$ in addition to previously reported findings, including visual field defects, third cranial nerve palsies, blepharoptosis, and @PHENOTYPICFEATURE$.	false
+6f8a80d474186f5821a898a9a367c367614e0d66	HPMRS or @DISEASE$ is a @PHENOTYPICFEATURE$ glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI-anchor.	false
+3b9e2075d305dd36b64ffec0aaf0a02b25b7e786	Good evidence exists for @PHENOTYPICFEATURE$, glaucoma and primary eye care EOS that: with appropriate training, accredited optometrists manage patients commensurate with usual care standards; genuine partnerships can exist between community and hospital providers for cataract and glaucoma EOS; patient satisfaction with all three types of service is high; cost-effectiveness of services is unproven for cataract and primary eye care, while glaucoma @DISEASE$ cost-effectiveness depends on service type; contextual factors may influence service success.	false
+c99b339363b7de4dee8d8412ad086be3c75c4afc	Good evidence exists for cataract, glaucoma and primary eye care EOS that: with appropriate training, accredited optometrists manage patients commensurate with usual care standards; genuine partnerships can exist between community and hospital providers for @PHENOTYPICFEATURE$ and glaucoma @DISEASE$; patient satisfaction with all three types of service is high; cost-effectiveness of services is unproven for cataract and primary eye care, while glaucoma EOS cost-effectiveness depends on service type; contextual factors may influence service success.	false
+82b5dcc1a4bbe8a31fb9fdeabea6854ccd67f4f6	Good evidence exists for cataract, glaucoma and primary eye care EOS that: with appropriate training, accredited optometrists manage patients commensurate with usual care standards; genuine partnerships can exist between community and hospital providers for cataract and glaucoma EOS; patient satisfaction with all three types of service is high; cost-effectiveness of services is unproven for @PHENOTYPICFEATURE$ and primary eye care, while glaucoma @DISEASE$ cost-effectiveness depends on service type; contextual factors may influence service success.	false
+1f5760501f7057066af0cd1391a64fe264a421d2	Good evidence exists for @PHENOTYPICFEATURE$, glaucoma and primary eye care EOS that: with appropriate training, accredited optometrists manage patients commensurate with usual care standards; genuine partnerships can exist between community and hospital providers for cataract and glaucoma @DISEASE$; patient satisfaction with all three types of service is high; cost-effectiveness of services is unproven for cataract and primary eye care, while glaucoma EOS cost-effectiveness depends on service type; contextual factors may influence service success.	false
+1739a931895d2f979241bfd05181a81f9d5f19f7	Good evidence exists for cataract, glaucoma and primary eye care EOS that: with appropriate training, accredited optometrists manage patients commensurate with usual care standards; genuine partnerships can exist between community and hospital providers for @PHENOTYPICFEATURE$ and glaucoma EOS; patient satisfaction with all three types of service is high; cost-effectiveness of services is unproven for cataract and primary eye care, while glaucoma @DISEASE$ cost-effectiveness depends on service type; contextual factors may influence service success.	false
+0e98d743ec668ca94fb447cfd7308a70fca1739f	Good evidence exists for cataract, glaucoma and primary eye care EOS that: with appropriate training, accredited optometrists manage patients commensurate with usual care standards; genuine partnerships can exist between community and hospital providers for cataract and glaucoma @DISEASE$; patient satisfaction with all three types of service is high; cost-effectiveness of services is unproven for @PHENOTYPICFEATURE$ and primary eye care, while glaucoma EOS cost-effectiveness depends on service type; contextual factors may influence service success.	false
+0a50be7d5f378a83c5d65254866571f2b087e780	Main clinical features were mental retardation, @PHENOTYPICFEATURE$, deafness, Hirschsprung disease, @DISEASE$, white hairlock, and growth retardation.	false
+5136e55d00ed7e8f5cbcc16ba74d5bb141f3bee6	@DISEASE$ with posterior column degeneration and @PHENOTYPICFEATURE$: a case report.	false
+6ba117cf7945195412f09e6c871dba32a5b8b790	In addition, she had bilateral @PHENOTYPICFEATURE$, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of @DISEASE$ type IX.	false
+4a39fd7ca5ff1b9333a4d9bc4ca4255b2499d592	By virtue of its mapping assignment to the Xp22 region, Cxorf5 represents a candidate gene for at least four human diseases, namely spondyloepiphiseal dysplasia late, @DISEASE$, craniofrontonasal syndrome, and a nonsyndromic @PHENOTYPICFEATURE$.	false
+4ef3c162901808b2e5df35ff9445e9e05c1c9f8a	The study of two X-linked dominant male-lethal disorders, such as the @PHENOTYPICFEATURE$ with linear skin lesions (MLS) syndrome and the oral-facial-digital type I (@DISEASE$) syndrome, offers the opportunity to discuss this intriguing topic.	false
+e098a478ef8113f3f99503c830e8e27b97ae2c13	We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (@DISEASE$) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and @PHENOTYPICFEATURE$ of the right foot respectively.	false
+cf2ad27c5d8c636991262779b862b21a68ea2aa0	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+60932ac7646342fa9e966a2174f542cfae8fdac7	The oral-facial-digital (@DISEASE$) syndromes comprise a group of related disorders with a combination of oral, facial and @PHENOTYPICFEATURE$.	false
+71cb06302e1172392d7e2c11891e548fb92e9635	Oral-facial-digital (@DISEASE$) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and @PHENOTYPICFEATURE$.	false
+6032c359ead64e1c42c0a7e741abac84e5023104	A number of human genetic disorders have been mapped to the region where STK9 has been localized including Nance-Horan (NH) syndrome, @DISEASE$ (OFD1), and a novel locus for nonsyndromic @PHENOTYPICFEATURE$ (DFN6).	false
+43e0899f2f5826739f91e7c33f520ca77b15568c	His brother, Patient 2, had @DISEASE$ features with @PHENOTYPICFEATURE$ and normal psychomental development.	false
+911af9923543fcd2109d84103f76ae12c4954342	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with @PHENOTYPICFEATURE$, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+37f105b1dacef86232217e5c465698512c6bdc1c	Parry-Romberg syndrome is a rare condition characterized by @DISEASE$, @PHENOTYPICFEATURE$, enophthalmos, retinal vasculopathy occasionally associated with hemicranial pain syndrome (secondary trigeminal neuralgia).	false
+b5d35e8520d02ca2e19fa8671ebd141a7a695e5c	@DISEASE$ is a rare condition characterized by progressive, hemifacial atrophy, @PHENOTYPICFEATURE$, enophthalmos, retinal vasculopathy occasionally associated with hemicranial pain syndrome (secondary trigeminal neuralgia).	false
+000923ac0ed3f8d3f8b79f0b54b30eeb201563b8	[A case of unilateral lingual atrophy and ipsilateral @PHENOTYPICFEATURE$ supplied by trigeminal nerve--in relation to @DISEASE$].	false
+ae8541dfd997160a0399cb051d1a6393bad2f12c	The retinal nerve fiber layer @PHENOTYPICFEATURE$ and the hyperreflectivity of the retinal surface indicate abnormalities and thickening of the vitreoretinal interface, as shown on OCT, and may further contribute to the retinal involvement in @DISEASE$.	false
+70967e80a8197bbe4f109bbc82b6f0b674da52d3	Fusion of the jaws in the neonate is a very rare congenital anomaly which may be associated with other congenital defects such as aglossia, @DISEASE$ or @PHENOTYPICFEATURE$.	false
+abbd2037db32f744b3d9be7bc0e840de7c956601	The profound hypotony concomitant with ciliary body @PHENOTYPICFEATURE$ in two patients with @DISEASE$ provides a clue linking the systemic disease to the ocular findings.	false
+2263016d07c67a866493926c8ff3cc0ee9dd9e66	[@DISEASE$ with atrophy of the breast & homolateral muscular atrophy of the arm & contralateral @PHENOTYPICFEATURE$ of the leg].	false
+32f0680e4d88d1ebb6c437e1a5b038b7cf45121f	Of the four cases, one showed fetal growth restriction, one neonatal @PHENOTYPICFEATURE$, one twin pregnancy, and what seems to be the first case of @DISEASE$ associated with a newborn child infected by this virus.	false
+c0e6a20f801b423168f91d305dcdc87c246facce	@DISEASE$ presents with acute respiratory failure, mild-moderate @PHENOTYPICFEATURE$, thrombocytopenia, and reactive lymphocytosis.	false
+bb0ffb045e01f0770f15c474a062361f6fd04f76	We present a 13-year-old girl with Griscelli syndrome type 2, who developed a @DISEASE$ along with marked @PHENOTYPICFEATURE$ and elevated plasma creatine kinase.	false
+e26348e12a3c0043a87b031ecaa6428de74a420f	Both, HFRS and @DISEASE$ share some clinical aspects, however, hemorrhage and @PHENOTYPICFEATURE$ are the hallmark of HFRS, while respiratory problems are distinctive signs and symptoms of patients with HPS.	false
+c1d701c56bc550bf0562478df3ef6379dafdcd2a	Both, HFRS and HPS share some clinical aspects, however, hemorrhage and @PHENOTYPICFEATURE$ are the hallmark of HFRS, while respiratory problems are distinctive signs and symptoms of patients with @DISEASE$.	false
+485a69577f8a6f99dba06ce46e52cfaf8aca6925	The patient's clinical course had many similarities to that of other @DISEASE$ patients in North and South America but was complicated by acute severe @PHENOTYPICFEATURE$.	false
+7ac90a03ffbc0016c79aa9c50549a900226aa71a	Coincidence of immunotherapy-associated @DISEASE$ and rapid @PHENOTYPICFEATURE$ regression.	false
+f2131846d46c7fd6c1e90086e74286107097b90c	He also had oliguric @PHENOTYPICFEATURE$ requiring dialysis on presentation and later found to have @DISEASE$ secondary to severe ehrlichia sepsis.	false
+7ac90a03ffbc0016c79aa9c50549a900226aa71a	Coincidence of immunotherapy-associated @DISEASE$ and rapid @PHENOTYPICFEATURE$ regression.	false
+ffa7b5e2ec0158fdff11a9a85c39e3d66eced152	They were divided into infection-associated @DISEASE$, @PHENOTYPICFEATURE$-associated HPS and rheumatological disease-associated HPS according to cause of diseases.	false
+675a88489c30ffdf4437a8ead798daf3781745a3	They were divided into infection-associated HPS, @PHENOTYPICFEATURE$-associated @DISEASE$ and rheumatological disease-associated HPS according to cause of diseases.	false
+98a0faf9d8be7b79b2d94d2d62298e6a7a6dcaad	They were divided into infection-associated HPS, @PHENOTYPICFEATURE$-associated HPS and rheumatological disease-associated @DISEASE$ according to cause of diseases.	false
+90b91f6c158aff3e07f35b72cffd81cee4a661ab	Acute brucellosis with typical @DISEASE$ accompanying elevated @PHENOTYPICFEATURE$ markers.	false
+7c1b849d80cd13096d76c81a32393a399dcaddf8	The results showed that HFD-STZ treatment induced obesity, hypertriglyceridemia, hypercholesterolemia, @PHENOTYPICFEATURE$, hyperglycemia and insulin resistance, characteristics of @DISEASE$.	false
+98e55c0baeef26b75795aa5b27ef3ad13d7cd2ef	The results showed that HFD-STZ treatment induced obesity, hypertriglyceridemia, @PHENOTYPICFEATURE$, hyperinsulinemia, hyperglycemia and insulin resistance, characteristics of @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+b1d1cde80de5706459e8d1e1c7866ec479500318	This study investigated the prevalence and determinants of hyperuricemia in Chinese @DISEASE$ (T2DM) patients with @PHENOTYPICFEATURE$.	false
+5eefb7160bbd80e8ffa730cd279d9470b142cf40	@PHENOTYPICFEATURE$ and @DISEASE$: impact on cancer.	false
+2123f7b0766723ff7970e7a72049f98bce2ec3ac	NAFLD is associated with @PHENOTYPICFEATURE$, insulin resistance, @DISEASE$, hypertension, and obesity-related dyslipidemia.	false
+a19626b469867b77b865186087298f3735292c25	@PHENOTYPICFEATURE$ is associated with increased risk of @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+5de14efe6b4681132982ba60d9cca56f64d6a4c9	Prevalence and determinants of hyperuricemia in @DISEASE$ patients with @PHENOTYPICFEATURE$ in Guangdong Province in China.	false
+32ed30d4b128e2fde589bbf2a986f20c83c52bb0	Obesity plays a central role in the insulin resistance syndrome, which is associated with hyperinsulinemia, @PHENOTYPICFEATURE$, hyperlipidemia, @DISEASE$, and an increased risk of atherosclerotic cardiovascular disease.	false
+745cd8870a9249a12ab11a748487ede165931e89	Obesity plays a central role in the insulin resistance syndrome, which is associated with @PHENOTYPICFEATURE$, hypertension, hyperlipidemia, @DISEASE$, and an increased risk of atherosclerotic cardiovascular disease.	false
+5ba68db99db757d790192772dcaa09bdea32b665	A 45-year-old woman with @DISEASE$ and multiple diabetic complications was diagnosed with hypoparathyroid @PHENOTYPICFEATURE$.	false
+e5b548dd251c4d86c7202426e163a0c70e86ae03	A 45-year-old woman with @DISEASE$ and multiple diabetic complications was diagnosed with @PHENOTYPICFEATURE$ hypercalcaemia.	false
+c374cbd625fadc98539f7be948d16399dcb553ed	Stress @PHENOTYPICFEATURE$ and acute graft-versus-host disease (@DISEASE$), the major early complication of hematopoietic stem cell transplantation (HSCT), are both associated with excessive release of inflammatory cytokines.	false
+c59d4a16aca7b6216007f96f7c58cd383e481762	In one patient with early relapse of a lymphoma PIIIP peaks correlated with episodes of @PHENOTYPICFEATURE$ and graft versus host disease (@DISEASE$).	false
+079487d63da53a94d8fa683b61cbbd205cc92a41	A significant correlation between IL2R and the occurrence of @PHENOTYPICFEATURE$ and/or graft-versus-host disease (@DISEASE$) could be shown.	false
+909987e52cd8bd7c8a46685bb2f017f4769a1e12	disease (@DISEASE$), i.e. weight loss, diarrhoea, @PHENOTYPICFEATURE$ and thymic hypoplasia.	false
+e82bd201f62dafcfb05b01a9b4bd03e3cea581eb	We report a patient with @DISEASE$ who suffered a fatal @PHENOTYPICFEATURE$ shortly after bone marrow transplantation.	false
+10645e23f4821288b0f695a2301173f28a586f9c	We must consider GVHD in renal transplant recipients without homozygous or identical HLA, who had only watery diarrhea without other typical @DISEASE$ symptoms such as skin rash and @PHENOTYPICFEATURE$, although GVHD is rare in renal transplant recipients.	false
+e849eefb39a8047ead30289a0a551ccdb8b55ec5	We must consider GVHD in renal transplant recipients without homozygous or identical HLA, who had only watery diarrhea without other typical GVHD symptoms such as skin rash and @PHENOTYPICFEATURE$, although @DISEASE$ is rare in renal transplant recipients.	false
+fdc92554f23c22c35176b550a4385d2dde240148	A 73-year-old man developed graft-versus-host disease (@DISEASE$) after blood transfusion; he developed hepatitis, @PHENOTYPICFEATURE$, rash, and pancytopenia.	false
+b23aafc2e40c1e7dacc4cfda4a959b2c554992e2	@DISEASE$ occurred 35 days after LDLT and was characterized by @PHENOTYPICFEATURE$, diarrhea, maculopapular rash, and leukopenia, which led to the development of fatal pneumonia.	false
+6ebd7eda152ec9bde9c17df791e9b9ab1ad50e7c	We report on a male pediatric patient with chronic @DISEASE$ who developed a fatal @PHENOTYPICFEATURE$ caused by coronary artery obstruction after HSCT.	false
+3eb07a456a44626c877fecd2ca3d97ae5242c961	Anemia, lymphopenia, @PHENOTYPICFEATURE$, profound anti-F1 cytotoxicity, and the loss of cytotoxic potential against third party alloantigen is seen in acute lethal @DISEASE$ disease.	false
+ca430e389223c08f9b49147345e0c25f42e1ff1c	The EEC syndrome, a rare congenital syndrome is characterised by ectodermal dysplasia, distal @PHENOTYPICFEATURE$, cleft lip and palate and lachrymal duct anomalies although the term oligosymptomatic EEC syndrome has been suggested for cases in which ectrodactyly may be absent and that such cases should not be deprived of the @DISEASE$ diagnosis.	false
+ec6a4b177813aae8e0b35009e13c3b07b4b0e8a4	The @DISEASE$, a rare congenital syndrome is characterised by ectodermal dysplasia, distal @PHENOTYPICFEATURE$, cleft lip and palate and lachrymal duct anomalies although the term oligosymptomatic EEC syndrome has been suggested for cases in which ectrodactyly may be absent and that such cases should not be deprived of the EEC syndrome diagnosis.	false
+0d5524cb310fb1a94f2e81ad8d60eaa28bb1429f	In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to @DISEASE$, and 30 with other syndromic orofacial clefts and/or @PHENOTYPICFEATURE$.	false
+b03d02abbb0b8cf9fa0c5cc8e1c9137958ff8296	In this study, we screened 39 syndromic patients, including four with @DISEASE$, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or @PHENOTYPICFEATURE$.	false
+1596547738a428e80d932a0f4ff10b2c87ce3280	The @DISEASE$ (ectrodactyly-ectodermal dysplasia -clefting) is defined as a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal @PHENOTYPICFEATURE$, cleft lip/palate, and lacrimal duct anomalies.	false
+e79c0cafa3d2d077c758fcba58c604cf6d859b8d	@DISEASE$ is a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal @PHENOTYPICFEATURE$, cleft lip and palate and ocular adnexia anomalies.	false
+2018b06e99470a2c713ddcb4bc93e29ec011eb85	The SETD2-related overgrowth syndrome is also called "@DISEASE$" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, @PHENOTYPICFEATURE$, and autism spectrum disorders.	false
+19612c4a30ad8003ba5e957843dc4ec1e2c14e7e	This article reports a full-term infant with Hirschsprung disease (HD) who was diagnosed to have hypertrophic pyloric stenosis (@DISEASE$) and @PHENOTYPICFEATURE$ (ACC).	false
+640a1330d578cf2166bc91f0a5a05812df5f5e3f	A patient with an unusual series of uncommon sarcoidosis complications, including cirrhosis with @DISEASE$, brain abscess and finally Nocardia @PHENOTYPICFEATURE$, is reported.	false
+93bd2639f026722c0d448ead6f4eb43f69e13b30	Those patients for whom SLE fever could not be suppressed by a higher dose of steroids usually had severe lupus @PHENOTYPICFEATURE$ or @DISEASE$.	false
+f5c28a0e4618b5bdd9a067d099d9e22a013c73bc	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+ecbf1f06e52fa847c395afa6a76a1ae280b9a935	However, the therapy is often limited by the appearance of adverse events (AEs), including nausea/vomiting, hepatic impairment, hand-foot @DISEASE$, @PHENOTYPICFEATURE$ and oral mucositis.	false
+e67356991a9f2ea39a1344037340da3fc4a6b68a	Grade 3 to 5 adverse events were more frequent among patients treated with EC/CMF (90.9%) than among those treated with nPX (64.8%) (P<.001), with hematological toxicities being more frequent with EC/CMF (88.4% vs 22.3%; P<.001), but nonhematological toxicities (hand-foot @DISEASE$, mucositis, fatigue, @PHENOTYPICFEATURE$, thromboembolisms, and metabolic disorders) being more frequent with nPX (58.5% vs 18.7%; P<.001).	false
+d8e88dd6a4a0af80bb51945a984c97cd392784f1	Ipsilateral @PHENOTYPICFEATURE$ of the @DISEASE$ (more than 3 centimeters difference in circumference) developed in five patients.	false
+2772456d6019036df12686cbe033215513262ba9	Early complications included thrombosis, nonmaturation, and upper @DISEASE$ @PHENOTYPICFEATURE$.	false
+934e5e66b2fb7d403dbea39a06cbc71206a988ff	Clinical manifestations include @PHENOTYPICFEATURE$ of the @DISEASE$, stasis acrocyanosis, tugor of the neck and shoulder veins, and severe headache.	false
+8a1c87f3f6fc60b3dbab971eb99dca871981a5e7	Plexopathy and @DISEASE$ @PHENOTYPICFEATURE$ grade II were observed in one patient and two patients, respectively.	false
+eb993f380cebaaa9ab83d7f0723332ee9fbea9eb	Complications of axillary lymph node dissection may include upper @DISEASE$ @PHENOTYPICFEATURE$, glenohumeral joint excursion obstacles, and neuropathy.	false
+ae8f62809cc4af853256264c708db656a7c06a4b	For ten years she has presented face, neck and @DISEASE$ @PHENOTYPICFEATURE$, for five years, arm actinic porokeratosis, and for two years back and face carcinomas.	false
+b6c3f49413b69cd205af775f1e943203e84ad304	In December 2016, she complained of pain in the fistula arm during dialysis, and in January 2017, she developed @PHENOTYPICFEATURE$ of the @DISEASE$.	false
+14359f85221e8356a02299ed54039cec5351bfdd	The occurrence of central vein total occlusion results in upper @DISEASE$ @PHENOTYPICFEATURE$, pain, and hemodialysis access failure in uremic patient.	false
+0d9f5b4f764038731a4d04333459a4bc20996ae5	Chronic @DISEASE$ @PHENOTYPICFEATURE$ is a common finding after modified radical mastectomy and its pathophysiology is unclear.	false
+a81c5feb7a8ba358deb1ca49229bdea09e2a788a	The presentation may be acute, clinically characterized by dyspnea and a characteristic triad (facial, neck and @DISEASE$ @PHENOTYPICFEATURE$, cyanosis and collateral circulation).	false
+e37e4d8aab6d6801416f086497285b7ae3828669	Myhre-@DISEASE$ syndrome is characterized by progressive systemic fibrosis and patients are diagnosed by characteristic findings of prognathism, short stature, abnormal facies, and @PHENOTYPICFEATURE$ among other abnormalities.	false
+c72d662d2747d648ec8fec6891fd467bd13351ac	Other complications(e.g., puncture site complications, side effects due to the contrast medium, radiation injuries, @DISEASE$, perianeurysmal @PHENOTYPICFEATURE$, hydrocephalus, and aseptic meningitis)must also be explained to the patient.	false
+ee15f8b2d406ccc0c8bc1b6a518d39cded810e9f	Associating liver partition and portal vein ligation for staged hepatectomy (@DISEASE$): an analysis of @PHENOTYPICFEATURE$ activity.	false
+ad96ff04c02b10efd7bb4052f98ff8d59986695b	In extensive metastatic disease the combination of PSA and @DISEASE$ reflects the @PHENOTYPICFEATURE$ activity.	false
+ed7d7058fdda4cce0ad84d5e79870ea479374dc2	This report describes clinical evidence regarding a possible effect of @DISEASE$ on @PHENOTYPICFEATURE$ recurrence.	false
+8ceaf4fdefbbf71b37a23899230e48a8ec9ed8b9	Mutations in the homologous receptor Fas (also named CD95; Apo-1) are observed in malignant lymphomas, solid @PHENOTYPICFEATURE$ and the @DISEASE$ type I (ALPS I).	false
+4027fe0bed12193e0a3fcabbfbea7e7aaa39c2e8	Mutations in the homologous receptor Fas (also named CD95; Apo-1) are observed in malignant lymphomas, solid @PHENOTYPICFEATURE$ and the autoimmune lymphoproliferative syndrome type I (@DISEASE$ I).	false
+f347aeb5200710fc24d6f7b69feea33b10646043	We compare the ability of @DISEASE$ versus PVE or PVL for complete @PHENOTYPICFEATURE$ resection.	false
+d48a428cafbb642a94f223d5bb6422d19adfe4a0	Activin and follistatin were associated with @PHENOTYPICFEATURE$ activity, as both correlated with @DISEASE$ and/or GGT levels.	false
+beeddd21f911f29583689d052b33ce774e7317c3	Hypothetically, @PHENOTYPICFEATURE$ actively producing bone should be specifically positive for @DISEASE$ staining.	false
+4bbf7cb0c4e02e0bcb131332bfc470bb53d6db2c	We report on a patient with @DISEASE$ who had been splenectomized for giant splenomegaly and progressively developed a voluminous abdominal @PHENOTYPICFEATURE$.	false
+e13ac75ed89b49df37d21f1a85772f65e5f16b2e	Alkaline phosphatases (@DISEASE$) contribute to immunosuppression in solid @PHENOTYPICFEATURE$, but they, unfortunately, are "undruggable".	false
+c38b7744107dbc743cb110aa7810c4f056b70ba5	To overcome the problem, a simultaneous resection of the primary @PHENOTYPICFEATURE$ and step one of @DISEASE$ were performed.	false
+29e1006b46be5e955dd0fbf9e313110f165b9715	Patients with central precocious puberty or @DISEASE$ rarely show morphologic abnormalities (@PHENOTYPICFEATURE$ of the tuber cinereum, partially empty sella).	false
+31f9334f82a495e22a7e81fda310967192443cfc	In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated @DISEASE$, central diabetes insipidus, @PHENOTYPICFEATURE$, eye anomalies, and cardiac malformations.	false
+a1942417cd77a8888a95d6ba099878d05a11a5ea	The first mutation in a gene associated with a @PHENOTYPICFEATURE$ was identified in patients with Kallmann Syndrome, characterized by @DISEASE$ and anosmia.	false
+5d91002620f2876ad01e1f66016005b2bc42efcc	MR imaging and spectroscopy of a tuber cinereum @PHENOTYPICFEATURE$ in a patient with growth hormone deficiency and @DISEASE$.	false
+c9931dff0cd1bad4cf03fb650cd313a70a5f0f9d	At least 10 well-defined clinical entities, including Ohtahara, Partington, and @DISEASE$, X-linked infantile spasms, X-linked lissencephaly with ambiguous genitalia, X-linked @PHENOTYPICFEATURE$ epilepsy and nonsyndromic intellectual disability have been ascertained from among the patients with ARX mutations.	false
+72721713f598773f8528e4fd20bd144c4a2a16e0	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of @DISEASE$ is characterized by congenital hypothyroidism, @PHENOTYPICFEATURE$, postaxial polydactyly, and mental retardation.	false
+8a497f54cbd85a3111fd7e8a343a4f1a0611dee5	Bioinformatic analysis of C9ORF72 using the Gene Expression Omnibus database showed expression differences in patients with @DISEASE$, @PHENOTYPICFEATURE$, and schizophrenia.	false
+c06ff137aba5ac6f91804fb66541741781249242	To study and compare the surgical outcomes of @DISEASE$ (MD) and spinal @PHENOTYPICFEATURE$ (SMA).	false
+c1d52242eac1f5d464a5b3e0d8da9049c6d88d78	The @DISEASE$ are commonly associated with cardiovascular complications, including cardiomyopathy and @PHENOTYPICFEATURE$.	false
+05ac85a1512398caf9b13b651ed98b399ac9e0f1	Heredofamilial juvenile @PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+0984143f280253b4d5aed59e8682b4727451b99b	@PHENOTYPICFEATURE$ and cardiomyopathy frequently accompany @DISEASE$.	false
+ebc17a388f6849fcafd71c45e10c4c6c20fc76c4	@PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+23f0c8e5081ea61bbc2344020f3a661f272e593e	Some specific forms are associated with other cutaneous signs (nail involvement, alopecia, hyperpigmentation, @PHENOTYPICFEATURE$) or extracutaneous involvement (@DISEASE$ or pyloric atresia).	false
+f0ca3dbf1b2feca406de35c8456ce32c7e849d7e	Linkage analysis excluded the loci for autosomal-dominant scapuloperoneal @DISEASE$ and scapuloperoneal @PHENOTYPICFEATURE$.	false
+e7870a4c04f3dc6d59b50bac5b2e9a7cfe5aac33	@DISEASE$ is a progressive disease of muscle weakness, @PHENOTYPICFEATURE$ and cardiac dysfunction.	false
+9617b4a803db53241c567c614d4488cea2919cab	[Spinal facioscapulo-peroneal (or facioscapulo-crural) @PHENOTYPICFEATURE$ and facioscapulo-peroneal @DISEASE$].	false
+e10178ec1a84c0ba02517a91692fd93750384540	Pili torti with @PHENOTYPICFEATURE$ (@DISEASE$): a case report.	false
+9fc816489f0d54e6d5b983c92a91a05564eb06c8	All 4 patients with AC NETs had neuroendocrine carcinoid (@DISEASE$) @PHENOTYPICFEATURE$.	false
+ab8bd693143ce3b5a57ce350c4a2b492ea21528a	In @DISEASE$ @PHENOTYPICFEATURE$, integrins, especially alpha2, decrease with dedifferentiation.	false
+a4c778243f12ac5ea3a6aa234acf6a8612d109ae	Primary hepatic NET and @DISEASE$ are very rare @PHENOTYPICFEATURE$.	false
+70b6ae16698208f90103cbdf5055a35b024da8a3	Rectal poorly-differentiated @DISEASE$ carcinomas are thought to be a @PHENOTYPICFEATURE$ with a high malignant potential.	false
+159c0d98ce4ec58f167dce6cab5ce55c239a260a	Prostates with @DISEASE$ tend to be larger and involve a greater number of cores than acinar @PHENOTYPICFEATURE$.	false
+c8ed5d7c8b3a3f6a6d540802b68981774972a35d	Mixed HCC/@DISEASE$ @PHENOTYPICFEATURE$ have been rarely reported in the literature with generally poor outcomes.	false
+b668ac0f1af7e6c1fc6477db6301ebf97a85af9e	When @PHENOTYPICFEATURE$ stabilization was evaluated, aflibercept shows higher ability to stabilize @DISEASE$ tumors than bevacizumab.	false
+0e5329d8d2db40fb4d8440c97ef87a4a6da82c93	When tumor stabilization was evaluated, aflibercept shows higher ability to stabilize @DISEASE$ @PHENOTYPICFEATURE$ than bevacizumab.	false
+59d05501e0108a37cea10c3dc84c9e9e3d7b1053	As compared with 23 patients with non-@DISEASE$ @PHENOTYPICFEATURE$, the patients with NECs had a worse prognosis.	false
+defc6e1d969c78f25a3e9d4abd7ffedc0e9db7a1	Oncogenetic pathways of colorectal @DISEASE$ are still poorly understood, and no treatment standards are available for these rare @PHENOTYPICFEATURE$.	false
+b39885bafceba075a5434af3b010565ca1323132	Seven @DISEASE$ @PHENOTYPICFEATURE$ samples were analyzed, three of them showed HPV type 18.	false
+6430f11ce1ff56ee1b70c828f5ad52b59afcd465	The evolution after resection by distal pancreatectomy was remarkable for the successive occurrence of a @DISEASE$ which was resistant to a gastric resection, then a @PHENOTYPICFEATURE$ coma with ketoacidosis and finally a glucagonoma syndrome.	false
+d027b83b0deadadf018beaf25344b3cf84ef091e	A pancreatic tumor that displayed bihormonal activity is described: the tumor elaborated insulin, resulting in a hyperinsulinism syndrome (spontaneous @PHENOTYPICFEATURE$) as well as a second hormone, apparently gastrin or a gastrin-like polypeptide, which led to the development of @DISEASE$.	false
+d58c4318d88015a8328bef9aa5d33f7bcb679b29	Endogenous hyperinsulinemia is suggested in the presence of non-suppressible insulin and proinsulin levels during @PHENOTYPICFEATURE$, whereas high fasting or stimulated gastrin levels along with elevated gastric acid output are diagnostic for the @DISEASE$.	false
+7eeb25ebf30d6e13acc71d41c102f1f470d9c42f	Between 1967 and 2003, 39 patients ages 19 to 58 years (mean age, 37) had abdominal operations for their pancreatoduodenal NENs: 26 with @DISEASE$, 4 with hypoglycemia, 3 with both Zollinger-Ellison syndrome and @PHENOTYPICFEATURE$, and 6 with nonfunctional neoplasms.	false
+410f040ee44f8e08075b9216e8042c2738ec2f93	Between 1967 and 2003, 39 patients ages 19 to 58 years (mean age, 37) had abdominal operations for their pancreatoduodenal NENs: 26 with Zollinger-Ellison syndrome, 4 with hypoglycemia, 3 with both @DISEASE$ and @PHENOTYPICFEATURE$, and 6 with nonfunctional neoplasms.	false
+f17313b88027e6f8e4e1a79846105e0156be162c	CONCLUSIONS This is the first case described in the literature of chronic otitis media associated with @PHENOTYPICFEATURE$ in a patient with the SBBYS variant of @DISEASE$.	false
+fee0b22197b58b8e35bcaba2fbbaba39ae33cdc9	A case is presented of chronic otitis media associated with @PHENOTYPICFEATURE$ in a six-year-old boy with the SBBYS variant of @DISEASE$.	false
+af6f874148222f2f40817bb0015f6cc0db4f3c6d	We suggest that schizophrenic patients with a history of delayed motor development, early onset of the disorder, history of learning disability, @PHENOTYPICFEATURE$, congenital cardiac anomalies and/or hypernasal speech should be screened for the velo-cardio-@DISEASE$ deletion.	false
+30f2f9282a2c1d1bf4c1210484483d7c018c4fad	We suggest that schizophrenic patients with a history of delayed motor development, early onset of the disorder, history of learning @PHENOTYPICFEATURE$, mental retardation, congenital cardiac anomalies and/or hypernasal speech should be screened for the velo-cardio-@DISEASE$ deletion.	false
+d8dab2ec623221f497a335625be0e348a774a798	Velo-cardio-@DISEASE$ is a developmental disorder characterized by heart defects, specific facial features, cleft palate and learning @PHENOTYPICFEATURE$.	false
+67dd8a1d847eeabae32641378bcaf35dc6d26a70	Blepharo-naso-@DISEASE$, described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and stenosis of lacrimal puncta, bulky nose, mask-like facies, trapezo?dal upper lip, torsion dystonia and @PHENOTYPICFEATURE$.	false
+5927ccbdd018a53efbc23419fd896876e465efa1	Microdeletions of the 22q11 region, responsible for the velo-cardio-@DISEASE$ (VCFS), are associated with an increased risk for psychosis and @PHENOTYPICFEATURE$.	false
+3c9c9381db58219923e09024060d01aa091887db	Children with a 22q11 deletion versus children with a speech-@PHENOTYPICFEATURE$ and learning disability: behavior during primary school age: Common behavioral features described in children with the Velo-Cardio-@DISEASE$ (VCFS) (del 22q11) are problems with attention and concentration, extremes in behavior and social problems, especially in relationship with peers.	false
+92968daed518bd12dcc6bba71aecd7044352fef1	First @PHENOTYPICFEATURE$ as late presentation of velo-cardio-@DISEASE$.	false
+14f29311a16a68ec2049283ddf9bb6be0acce13d	Velo-cardio-@DISEASE$ (VCFS) is associated with deletions on the long arm of chromosome 22, mild @PHENOTYPICFEATURE$, poor social interaction and a high prevalence of psychosis.	false
+3604e630a2f706675162a5795b27901b6d75b103	The primary diagnoses of these patients included distal arthrogryposis, cerebro-oculo-@DISEASE$, ischemic contracture and @PHENOTYPICFEATURE$.	false
+5d2db04118eb793008478e6d50b59bcdf3e826e2	Oto-@DISEASE$ and esophageal atresia, @PHENOTYPICFEATURE$ and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.	false
+99969ce7589eb69a5a49166cb500e81bf049a2dd	Velo-cardio-@DISEASE$ (VCFS), a syndrome of multiple congenital abnormalities including characteristic dysmorphology, congenital heart defects and learning @PHENOTYPICFEATURE$, is associated with small interstitial deletions of chromosome 22qII.	false
+77c8c58d574af67abf054e06869402af447409d2	Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9a5ce7bcd0a24eae43bd536ee05eae4981209ba8	Diagnoses of infertility include hypogonadotrophic @DISEASE$ (compartments I and II), @PHENOTYPICFEATURE$ (III), and obstructive disorders (compartment IV).	false
+327f05b0475f0687a2ee689fe5b696c723ffac96	@PHENOTYPICFEATURE$ and @DISEASE$ are extremely frequent in patients with thalassemia.	false
+7ee66981e723c4829c065a8c85ab74ed755eb9f4	@PHENOTYPICFEATURE$ and @DISEASE$ are the classical clinical findings.	false
+9ad349605a1142fdf3abd86b1df96e2f6362bed7	Familial coexistence of diabetes mellitus, hyperlipemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a8b492b5e0142b43da5449f9472c750ba2fb5afd	Young male with headache, @PHENOTYPICFEATURE$, and @DISEASE$	false
+9519bf67da6d119fec75ba5369960d0c585d8c25	Physical examination demonstrated @PHENOTYPICFEATURE$, hearing loss, photophobia, murmur, and @DISEASE$.	false
+509d92917b864080509e737763b6cc72fbffcfc3	@PHENOTYPICFEATURE$ and @DISEASE$ patients were significantly older.	false
+b2c025be21c5f20d9c480775ab2eba05ea979f5e	@PHENOTYPICFEATURE$ and @DISEASE$ patients were older.	false
+90d2242d962f40f5d0f196c856857ad505025966	Young male with headache, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+56cce0b6c53da260d321cc35741ddbf868d8b3fa	Loss of heterozygosity in sporadic oesophageal @PHENOTYPICFEATURE$ in the @DISEASE$ oesophageal cancer (TOC) gene region of chromosome 17q.	false
+882b00dfd10c0f563fb1cce295a0726658fb93b9	Each of these conditions is associated with an increased incidence of certain @PHENOTYPICFEATURE$: Wilms' tumor, adrenocortical carcinomas, pancreatoblastomas, and hepatoblastomas in Beckwith-Wiedemann syndrome; intraocular malignant melanoma, pancreatic carcinoma, and noncolorectal gastrointestinal cancers in familial atypical multiple mole melanoma syndrome; and squamous cell carcinoma of the esophagus in hereditary @DISEASE$.	false
+678a6d0c830048163c2007a06dc134e9987e37b5	The locus for a syndrome of focal palmoplantar keratoderma (@DISEASE$) associated with squamous cell oesophageal cancer (TOC) has been mapped to chromosome 17q25, a region frequently deleted in sporadic squamous cell oesophageal @PHENOTYPICFEATURE$.	false
+5f0465738f3a5eee7635f31189f425329e89b6b8	Late-onset @DISEASE$ as a Friedreich @PHENOTYPICFEATURE$ phenocopy.	false
+ea06a65273139b936698f9e2ef04d4c7d4cfc360	Adult onset supranuclear ophthalmoplegia, @PHENOTYPICFEATURE$, and neurogenic proximal muscle weakness in a brother and sister: another @DISEASE$ syndrome.	false
+f4f67142907afa36aa06389ddd4c010a4fe0ff67	They were first diagnosed as having atypical spinal muscular atrophy and, subsequently, spinocerebellar @PHENOTYPICFEATURE$, but, recently, the diagnosis of late-onset @DISEASE$ was confirmed based on reduced plasma hexosaminidase A activity and the G269S/InsTATC1278 genotype.	false
+e6e31c55215fefd0e9c9f3108eb77826793e27c1	The typical features of @DISEASE$ are muscle weakness, @PHENOTYPICFEATURE$, speech, and mental disorders.	false
+5e361f3e198e1e9711b84add4b227919938e2195	Conditions studied were breast and ovarian cancers, colon cancers, Alzheimer disease, cystic fibrosis, hearing loss, hereditary hemochromatosis, long QT syndrome, spinocerebellar @PHENOTYPICFEATURE$, @DISEASE$, and Canavan disease.	false
+b342e78464f7f7b6b2e843d08170393722f493ec	An example of such a hereditary condition is @DISEASE$, which leads to degeneration of nerve cells in the brain, resulting in @PHENOTYPICFEATURE$, blindness and early death.	false
+c0d56f4fde137bae9f7c2573a3e02a03d549f751	The clinical manifestations of @DISEASE$ include progressive developmental delay, seizures, deafness, blindness, @PHENOTYPICFEATURE$, and dystonia, which are caused by the accumulation of gangliosides in the central nervous system.	false
+be8ea44b7de32c1a0732dad12f4deb9ea0f1f265	The authors report on nine children with solid @PHENOTYPICFEATURE$ (hepatoblastoma [1], neuroblastoma [2], adrenal cortical carcinoma [2], liver adenoma [1], primitive neuroectodermal tumor [PNET] [1], and stage V @DISEASE$]) for whom tumor resectability was questioned because of the tumors' close proximity to major blood vessels (noted through conventional radiographic imaging).	false
+b98c9a82366dd662d92b6d80aabc6bf31e3d851d	The authors report on nine children with solid tumors (hepatoblastoma [1], neuroblastoma [2], adrenal cortical carcinoma [2], liver adenoma [1], primitive neuroectodermal tumor [PNET] [1], and stage V @DISEASE$]) for whom @PHENOTYPICFEATURE$ resectability was questioned because of the tumors' close proximity to major blood vessels (noted through conventional radiographic imaging).	false
+dc9becc56e8d710314bc8b3a1d018998ffa4b294	The authors report on nine children with solid tumors (hepatoblastoma [1], neuroblastoma [2], adrenal cortical carcinoma [2], liver adenoma [1], primitive neuroectodermal tumor [PNET] [1], and stage V @DISEASE$]) for whom tumor resectability was questioned because of the @PHENOTYPICFEATURE$' close proximity to major blood vessels (noted through conventional radiographic imaging).	false
+fbe4ab84a3ff5db7618b64594bf4680730ca6321	The original @PHENOTYPICFEATURE$ were 3 @DISEASE$ neuroblastomas, and 1 lymphoma.	false
+3e48b71948f891b35b9e700a16218963f71f5766	The incidence of loss of p16 expression may increase with increasing @PHENOTYPICFEATURE$ stage, i.e., 1/10 (10%) with stage I/II FH @DISEASE$/10 (20%) with stage III FH Wilms tumor, and 4/10 (40%) with stage IV FH Wilms tumor.	false
+4ab0d2a63dd192dce0f15f93e07cc6fbb235f595	Of the 8 patients with UPD, 4 had tumors (3 hepatoblastomas, 1 Wilms tumor); 0/3 patients with hypomethylation at KCNQ1OT1 had a tumor; of the remaining 40 with no molecular alterations, 6 had @PHENOTYPICFEATURE$ (3 @DISEASE$ neuroblastomas, 1 adrenocortical adenoma).	false
+99b6f47e4f2a7f3e1fc3c3b8bd9cd1b886647236	Of the 8 patients with UPD, 4 had @PHENOTYPICFEATURE$ (3 hepatoblastomas, 1 Wilms tumor); 0/3 patients with hypomethylation at KCNQ1OT1 had a tumor; of the remaining 40 with no molecular alterations, 6 had tumors (3 @DISEASE$ neuroblastomas, 1 adrenocortical adenoma).	false
+82233dffdfc3a4714684e17274f31ed615cc5547	Of the 8 patients with UPD, 4 had tumors (3 hepatoblastomas, 1 Wilms tumor); 0/3 patients with hypomethylation at KCNQ1OT1 had a @PHENOTYPICFEATURE$; of the remaining 40 with no molecular alterations, 6 had tumors (3 @DISEASE$ neuroblastomas, 1 adrenocortical adenoma).	false
+a46aa0496957b04538916b90bc42a37d4c0f5d6a	The radiological picture of @DISEASE$ closely resembles sclerosteosis, although in the latter patients, @PHENOTYPICFEATURE$, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with van Buchem disease.	false
+679fa75567c753ab5ff0d11e17306b705d131a0c	The radiological picture of van Buchem disease closely resembles sclerosteosis, although in the latter patients, @PHENOTYPICFEATURE$, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with @DISEASE$.	false
+126cdb937410b9ea928baa003c7d3619c3445540	The features also overlap with @DISEASE$, another rare but well-defined @PHENOTYPICFEATURE$ for which the genetic etiology has not been identified.	false
+78e3526578d2e82c97cb464154621688bf514392	@DISEASE$ (LWS) is a @PHENOTYPICFEATURE$ characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement.	false
+3144630d3536dfacc9055b3c125adca28b322aba	There is limited literature on the management of @PHENOTYPICFEATURE$ in @DISEASE$ (JXG).	false
+54d43abf8aa8c90bb104f56033587d3a36a8920e	Spontaneous hyphema in a neonate has been associated with @DISEASE$, @PHENOTYPICFEATURE$, and retinoblastoma.	false
+a2d99038ced042b2c55254e6ee7dcf721b858a74	Iron-deficiency anemia (@DISEASE$) is prevalent in patients with advanced @PHENOTYPICFEATURE$ (CHF).	false
+14d8fbb2e4e8db388c96a3700564c3ca00603037	Individuals with @DISEASE$ were significantly more likely to carry diagnoses of epilepsy, constipation, osteoporosis, @PHENOTYPICFEATURE$, and hyperlipidemia; but were significantly less likely to bear diagnoses of hypertension, diabetes, osteoarthritis, heart failure, coronary heart disease, and COPD.	false
+6f4ccd2951fd070b4a059335b6a128ece4492c1e	Individuals with @DISEASE$ were significantly more likely to carry diagnoses of epilepsy, constipation, osteoporosis, obesity, and hyperlipidemia; but were significantly less likely to bear diagnoses of hypertension, diabetes, osteoarthritis, @PHENOTYPICFEATURE$, coronary heart disease, and COPD.	false
+97cc6a7c0ce5964ff4807f3546b427bc1a197d76	To explore the prevalence of obesity and related secondary conditions associated with @PHENOTYPICFEATURE$ in adolescents with intellectual/developmental disabilities (@DISEASE$).	false
+0bb65c241ee4d3411180aafcc8b53877cd99aa0a	To explore the prevalence of @PHENOTYPICFEATURE$ and related secondary conditions associated with obesity in adolescents with intellectual/developmental disabilities (@DISEASE$).	false
+f75a4fdd148b546e391af2d1e4ea07b9e412fb99	Adolescents with intellectual and developmental disabilities (@DISEASE$) have high rates of @PHENOTYPICFEATURE$.	false
+ae74c869761dc23470b87e90d57ff699f6124eda	There is only few information in the current literature, on clinical and particularly dentofacial findings due to recent @DISEASE$ of the syndrome and its clinical overlap with other @PHENOTYPICFEATURE$ syndromes.	false
+c66d1e1ab704693794f770b8c01e2d9f3c6728a6	The authors present a case of H.D.C. (hydrocephalus-dementia-complex) in Paget's disease with an @DISEASE$ syndrome, but with obstructive @PHENOTYPICFEATURE$, causing a triventricular dilatation.	false
+d6b64991c101768fdae024fe7a0f40b6300bfaac	The authors present a case of H.D.C. (@PHENOTYPICFEATURE$-dementia-complex) in Paget's disease with an @DISEASE$ syndrome, but with obstructive hydrocephalus, causing a triventricular dilatation.	false
+f205325080f0cfb5c88e96025f4f0048f3e9f159	Half of the @DISEASE$ patients have been found out to develop the @PHENOTYPICFEATURE$ syndrome of both systolic and diastolic variant.	false
+a67a3b5f544083c1093edd79cb1490ae0cc52ae1	The mechanistic basis of @PHENOTYPICFEATURE$-associated intervertebral disc degeneration (@DISEASE$) is unclear.	false
+e994793897c0dcf250477dcebbb91439f3c36083	Several conditions, such as occupational activities, gender, age, and @PHENOTYPICFEATURE$, have been associated with @DISEASE$.	false
+02a0adfdec99a635bc35d995ddf100a251499267	The lowest rates of obesity @DISEASE$ occurred among children <5 years of age and those with milder degrees of @PHENOTYPICFEATURE$.	false
+e3dcde7443ad200438c3284d78188a49487c934b	The lowest rates of @PHENOTYPICFEATURE$ @DISEASE$ occurred among children <5 years of age and those with milder degrees of obesity.	false
+a4b461646779fd90e7e0337f3dfa22edf93df93a	@DISEASE$ (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, @PHENOTYPICFEATURE$, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation.	false
+e09acea4b411d3a1ac681a7b114612d4df3a282e	@DISEASE$ (FS) is an autosomal dominant disorder characterized by microcephaly, short stature, digital anomalies, esophageal/duodenal atresia, @PHENOTYPICFEATURE$, and various learning disabilities.	false
+19854796e34c03437235fd5c93ad27fdadf146cd	Defects in human calpain 3 are responsible for @DISEASE$, an autosomal-recessive disorder characterized mainly by late-onset proximal @PHENOTYPICFEATURE$.	false
+4f2a6c413ca6c27c39ed6471e459466e33ff79ab	It is shown on the model of mouse @DISEASE$ @PHENOTYPICFEATURE$ metastases in the liver that platinum(II) complex compound Platin in phosphatidylcholine-cholesterol liposomes, stored for 7 years after lyophilization, causes complete cure of 40% animals, while free Platin prolongs the lifespan of mice with tumors by only 31.7% vs. control (no treatment).	false
+a72a868e944ad39840401e731fac5ac8e64806ee	It is shown on the model of mouse @DISEASE$ tumor metastases in the liver that platinum(II) complex compound Platin in phosphatidylcholine-cholesterol liposomes, stored for 7 years after lyophilization, causes complete cure of 40% animals, while free Platin prolongs the lifespan of mice with @PHENOTYPICFEATURE$ by only 31.7% vs. control (no treatment).	false
+c0519b692814a545b84c13599726eda245e1a542	Antimetastatic effect of the liposomal form of recombinant lactaptin RL2 (a proteolytic fragment of human breast milk ?-casein; 8.6 kDa) was studied in A/Sn mice after intravenous transplantation of @DISEASE$ @PHENOTYPICFEATURE$ with high rate of liver metastases.	false
+9052b6629ee56721ffb1142da8bf9a7d69733e78	[Effectiveness of cycloplatam in the free form and included in liposomes during metastasis of @DISEASE$ @PHENOTYPICFEATURE$ in A/He mice].	false
+0e8da04e5bd6e63d532e96e53dbedd44e6cd54ed	A single intravenous injection of RL2 lactaptin in liposomes prolonged lifespan of animals with liver metastases of @DISEASE$ @PHENOTYPICFEATURE$ by 1.5 times in comparison with that in untreated animals.	false
+e0ecd816d401cf7018218bb8f0c69bbfe8843cf4	Loss of Norrin signalling due to mutations in the @DISEASE$ pseudoglioma gene causes severe vascular defects in the retina, leading to @PHENOTYPICFEATURE$ and ultimately blindness.	false
+17a7a8da7ba5bd6896edf1c32e4f64134e939742	@DISEASE$ is a rare, but devastating cause of pediatric retinal detachment, universally portending a @PHENOTYPICFEATURE$ prognosis.	false
+8d000754dd638c6a8cfb2ede30a1a2a728210dec	X-linked @PHENOTYPICFEATURE$ (@DISEASE$) was suspected.	false
+db4e2a32cdac859f014d23059d16a1f2885d57ae	Unfortunately, patients with @DISEASE$ may develop nephrocalcinosis, secondary or tertiary hyperparathyroidism, and in some situations also hypertension and @PHENOTYPICFEATURE$.	false
+ad6bbee6240ea46bd83f0d7c06772b90559e9425	Gene(s) for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+97bb4be0337e3bd1f9788aefa7ef385bd8ddedff	We present the two siblings with X-linked @PHENOTYPICFEATURE$ (@DISEASE$) and discuss the clinical features and genetical analysis of them.	false
+d7a144dcefde9986ed5ee3dda6871a1bbcd937bd	@PHENOTYPICFEATURE$ in familial @DISEASE$.	false
+5441fd8c09b96a92c2d9a8c1bb3c971cdb2b7df1	X-linked @PHENOTYPICFEATURE$ (@DISEASE$) is characterized by increased intracranial ventricle size and head circumference secondary to aqueduct of Sylvius congenital stenosis.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+7d465240e9bdb10f0d81b9e0d9fb90cfb8db7cfe	@PHENOTYPICFEATURE$ occur in association with these complications, but have not been reported in @DISEASE$.	false
+d6dcc46b3b4d5254fd6a50dd05dd8ba4938187ed	We report on a woman with four successive pregnancies affected with X-linked @PHENOTYPICFEATURE$ (@DISEASE$).	false
+4a9fdcc1baca11a3023f5577da5b75d31d815489	The aim of this study was to evaluate the feasibility of prenatal L1CAM gene testing for X-linked @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a4290009dd09ff09bd24d14c7b70b66b681b1da2	Here we report on a newborn with @PHENOTYPICFEATURE$, cleft palate, spiky hair, congenital hypothyroidism and that are observed with @DISEASE$.	false
+6d7acc67778d42a18ab86ebde4ab3438e9a36ba6	In recent years, findings from studying the LCAT knockout mice began to suggest that @DISEASE$, in spite of its unfavorable high triglyceride/low HDL lipid phenotypes, may confer protection from the development of insulin resistance and @PHENOTYPICFEATURE$.	false
+3af22594ffedc3753d94398201c407a1278a3ab6	@DISEASE$ protects from diet-induced insulin resistance and @PHENOTYPICFEATURE$--novel insights from mouse models.	false
+8d456a683d97a3cd5a550c7f53d6403371dbf0e5	Here, we report that @DISEASE$ mice (DKO and Lcat(-/-)) are protected against high fat high sucrose (HFHS) diet-induced @PHENOTYPICFEATURE$ without hypophagia in a gender-specific manner compared with their respective (SKO and WT) controls.	false
+6117f81d3c943da36445d80e2d27c5763a2f6e12	Our findings suggest that @DISEASE$ confers gender-specific protection against diet-induced @PHENOTYPICFEATURE$ and insulin resistance at least in part through regulation in UPR, white adipose tissue adipogenesis, and brown adipocyte partitioning.	false
+a40bfcee2bed4f9edf9ffe10e44177eed53cb93f	In conclusion, as the increased LDL oxidability and structural and functional abnormalities of HDL particles have been reported in patients with @PHENOTYPICFEATURE$ and diabetes, the results suggested that the adverse coronary risk profile, and not being @DISEASE$, may be responsible for the CVD found in our proband, and for the early atherosclerosis observed in the two heterozygotes and in the wild?type family members.	false
+80da1b7c958d652c0f0b9fe239e708fbf46c2512	@DISEASE$ is an X-linked disorder with minimal expression in carrier females and comprises typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes, @PHENOTYPICFEATURE$, and impaired survival.	false
+3c78e55ebfaa805f56492f1c76ced5ff3b552c99	Anti-GQ1b antibodies are present in the Miller Fisher syndrome (@DISEASE$), a monophasic neuropathy characterized by ataxia, areflexia, ophthalmoplegia, and sometimes cranial @PHENOTYPICFEATURE$.	false
+5ceb565f7651db2dcc232e57d18f0ffafe642f0d	We provide the clinical details of two autosomal dominant families with this specific FBN1 variant, which was previously associated with @PHENOTYPICFEATURE$ @DISEASE$.	false
+b74404c7e04f2a9e48aeea13c27ecd455d41a4d1	In these patients with @DISEASE$ with aortic dissection, open TAAA repair incurred reasonable operative risk, but improvements are needed to reduce rates of @PHENOTYPICFEATURE$.	false
+a9e38338a93c377610cc561f0915479810518e51	Multivariate survival analyses further indicated that @PHENOTYPICFEATURE$ size was the most significant independent prognostic factor for OS and MFS and the histological grade was also significant for @DISEASE$.	false
+d0e37681ae8b3b39841dba182456f6041a348b92	Multivariate survival analyses further indicated that @PHENOTYPICFEATURE$ size was the most significant independent prognostic factor for OS and @DISEASE$ and the histological grade was also significant for MFS.	false
+8f081d4d2f798866d678c3e13e67e40137dfbff8	The pain, @PHENOTYPICFEATURE$, muscle atrophy, and sensory disturbances illustrate the severe neurological complications which may occur in @DISEASE$, especially at later age.	false
+54d4eb682e3555b08b9f303d50e9ce22411f481d	These data suggest that children with @DISEASE$ and hypertension need to be evaluated carefully for the presence of @PHENOTYPICFEATURE$.	false
+e453d329b1833675a37d5cd178e711d495da800b	S.?typhimurium A1-R arrested the @DISEASE$ PDOX @PHENOTYPICFEATURE$.	false
+838e77097097aa422612a5eb77f28070084c21e9	Surgical margins and @PHENOTYPICFEATURE$ grade prognostically influenced LRFS, @DISEASE$ and OS.	false
+b85265023576f1b62353ffb8439c01846fb81959	Moreover, several families with @PHENOTYPICFEATURE$ @DISEASE$ caused by pathogenic variants in FBN1 have been described.	false
+fff6ad8b33ca122a1212e352ca76a9c9a0b177ce	In multivariable analysis, @PHENOTYPICFEATURE$ diameter, pT stage and tumour necrosis were independent predictors of @DISEASE$ and DFS.	false
+b1f21b105d3ffa9a3220ef5138ee10aed64030ba	In multivariable analysis, tumour diameter, pT stage and @PHENOTYPICFEATURE$ necrosis were independent predictors of @DISEASE$ and DFS.	false
+1794c0857b5c02fe1f22987bf8766a746efab915	Although the @PHENOTYPICFEATURE$ incidence was lowest in @DISEASE$ (57%) it was not statistically different from either pure (75%) or mixed (80%) oligodendroglial tumours.	false
+11b57deecbc65f543e7ddcac3d5038905112e31c	In addition to the genetic conditions reviewed in Part I of this article, sclerosteosis, @PHENOTYPICFEATURE$, lipoid proteinosis, @DISEASE$ and various haematological disorders also occur in high frequency in the Afrikaner community.	false
+0eaed66bc6c1219172a8b6eb14f21c7a5dd2db44	Over the last ten years, an increasing number of authors have used the theta burst stimulation (@DISEASE$) protocol to investigate long-term potentiation (LTP) and long-term depression (LTD)-like plasticity non-invasively in the primary motor cortex (M1) in healthy humans and in patients with various types of @PHENOTYPICFEATURE$.	false
+0db5c75b48e1ce287026442fe414010057024f3a	? Co-occurrence of ARMs and upper @PHENOTYPICFEATURE$ is seen in disorders such as @DISEASE$, Fanconi anemia, and VACTERL association.	false
+ad98e11e604e4718624d52692a7ab1534da22c81	@DISEASE$ (GHIS) is caused by a defective growth hormone receptor (GHR) and is associated with insulin-like growth factor-I (IGF-I) deficiency, severely short stature and, from adolescence, fasting hyperglycemia and @PHENOTYPICFEATURE$.	false
+d0098b623b3f82453e1bd571e6db238389d7abf2	@DISEASE$ (GHIS), a genetic disease characterized by @PHENOTYPICFEATURE$ combined with high serum concentration of growth hormone (GH) and low insulin-like growth factor 1 (IGF-1) levels, can be caused by mutations in the GH receptor (GHR) gene.	false
+5f5ad648d224d31d7c020b9d0edc6a1355f11e95	@DISEASE$ (GHIS) is a rare cause of @PHENOTYPICFEATURE$ characterized by high serum GH levels, and low serum insulin-like growth factor I (IGF-I) levels associated with a genetic defect of the GH receptor (GHR) as well post-GHR signaling pathway.	false
+b42ddaf14644288940913ad2ea933d083a10a58b	The present results indicate that @DISEASE$ is an excellent biological wound dressing for improving wound conditions so that they are suitable for subsequent autologous skin grafting as well as for shortening the treatment duration for skin ulcers and full-@PHENOTYPICFEATURE$ defects.	false
+b8c7556fba99bee8b96049b498963ad6f8289974	20-fold increase in @PHENOTYPICFEATURE$-cell kill for both @DISEASE$/CDDP and CTX/Carbo.	false
+b7aae734d1d7ea1deb914b0c55c18de1a9bc260d	20-fold increase in @PHENOTYPICFEATURE$-cell kill for both CTX/CDDP and @DISEASE$/Carbo.	false
+79555700c348e894f3c7b6039c99503c159cb6d2	[A case of familial type IIa @PHENOTYPICFEATURE$ with the clinical features similar to @DISEASE$].	false
+6cce38badb79a890b4f4c35f922676333c8cfe67	CAIBG, @DISEASE$, and combined use of CAIBG and CTX could down-regulate the @PHENOTYPICFEATURE$ growth and prolong the survival time.	false
+30016e1594f3028478fdd13262ff9bf4b40e4104	CAIBG, CTX, and combined use of CAIBG and @DISEASE$ could down-regulate the @PHENOTYPICFEATURE$ growth and prolong the survival time.	false
+16342cae139baa4cf2af2aeba4601ecda34b3458	Thus, both UTI and CTX can significantly inhibit xenograft @PHENOTYPICFEATURE$, and the UTI + @DISEASE$ combination exhibited an additive effect that was superior to both CTX and UTI monotherapy.	false
+0fe5379a82b1820e8ef324cdc6c173106f624234	Thus, both UTI and CTX can significantly inhibit xenograft @PHENOTYPICFEATURE$, and the UTI + CTX combination exhibited an additive effect that was superior to both @DISEASE$ and UTI monotherapy.	false
+89fb064005d9b60f567c8aec26b637c0f484951d	Thus, both UTI and @DISEASE$ can significantly inhibit xenograft @PHENOTYPICFEATURE$, and the UTI + CTX combination exhibited an additive effect that was superior to both CTX and UTI monotherapy.	false
+73bd221ef39bb95c619a524a3ef295f54a0d6a63	A substantial proportion of @DISEASE$ patients with severe neonatal @PHENOTYPICFEATURE$ may die or need liver transplantation.	false
+35882838ff787704477de1097e0e7166a40ec153	Compared to untreated negative controls, @PHENOTYPICFEATURE$ sizes were decreased in the CTX alone, SLBZP (M)+@DISEASE$ and SLBZP (H)+CTX groups (-52%,-53% and -58% respectively).	false
+848318361a9acf4858bdc11d87db4c89d25cec87	Compared to untreated negative controls, @PHENOTYPICFEATURE$ sizes were decreased in the @DISEASE$ alone, SLBZP (M)+CTX and SLBZP (H)+CTX groups (-52%,-53% and -58% respectively).	false
+03492e249246f0f09386ac976242c4b6de2fb5aa	Compared to untreated negative controls, @PHENOTYPICFEATURE$ sizes were decreased in the CTX alone, SLBZP (M)+CTX and SLBZP (H)+@DISEASE$ groups (-52%,-53% and -58% respectively).	false
+013d050fd9e20b1a061a0e5494f76080ecb236b9	We describe an adult patient with type IIa @PHENOTYPICFEATURE$, presenting with Achilles tendon xanthomas, cataracts, dementia, ataxia, pyramidal tract signs, and peripheral neuropathy, which are commonly seen in cerebrotendinous xanthomatosis (@DISEASE$).	false
+21836356cc5d203f2ed7dee8c1952f5732c00b01	We describe an adult patient with type IIa @PHENOTYPICFEATURE$, presenting with Achilles tendon xanthomas, cataracts, dementia, ataxia, pyramidal tract signs, and peripheral neuropathy, which are commonly seen in @DISEASE$ (CTX).	false
+73324d553f06db118696d7bd5556c464f57de24a	In @DISEASE$, the cerebellar symptoms and cerebellar @PHENOTYPICFEATURE$ are usually seen in adult patients.	false
+18395a72f39dcd6b0dce450e46f81eb59f9b3b75	Within 2 weeks after CTX treatment, the speed of tumor shrinkage had a positive relationship with the dose of CTX used; but the survival rate of the @PHENOTYPICFEATURE$-bearing mice had a negative relationship with the dose of CTX used in 2 months after @DISEASE$ treatment.	false
+9c90065920324f20008ba5af6357a84806585589	Within 2 weeks after CTX treatment, the speed of @PHENOTYPICFEATURE$ shrinkage had a positive relationship with the dose of @DISEASE$ used; but the survival rate of the tumor-bearing mice had a negative relationship with the dose of CTX used in 2 months after CTX treatment.	false
+c6cd1ba3d25484fd5db724a64c64a9881bcfd6b4	Within 2 weeks after @DISEASE$ treatment, the speed of tumor shrinkage had a positive relationship with the dose of CTX used; but the survival rate of the @PHENOTYPICFEATURE$-bearing mice had a negative relationship with the dose of CTX used in 2 months after CTX treatment.	false
+ef31b9b7595ff2caea1846bf82883657dd17edd3	Within 2 weeks after CTX treatment, the speed of tumor shrinkage had a positive relationship with the dose of @DISEASE$ used; but the survival rate of the @PHENOTYPICFEATURE$-bearing mice had a negative relationship with the dose of CTX used in 2 months after CTX treatment.	false
+5d8d872f67537662b92f7ed70e43b07b2434478a	Within 2 weeks after CTX treatment, the speed of @PHENOTYPICFEATURE$ shrinkage had a positive relationship with the dose of CTX used; but the survival rate of the tumor-bearing mice had a negative relationship with the dose of @DISEASE$ used in 2 months after CTX treatment.	false
+db7289d8bfd31ee2ca642211bc534ec023702c4f	Within 2 weeks after @DISEASE$ treatment, the speed of @PHENOTYPICFEATURE$ shrinkage had a positive relationship with the dose of CTX used; but the survival rate of the tumor-bearing mice had a negative relationship with the dose of CTX used in 2 months after CTX treatment.	false
+3081cb6b897430becc28dcf0e08faf4340a707b2	Within 2 weeks after CTX treatment, the speed of @PHENOTYPICFEATURE$ shrinkage had a positive relationship with the dose of CTX used; but the survival rate of the tumor-bearing mice had a negative relationship with the dose of CTX used in 2 months after @DISEASE$ treatment.	false
+01eaf0d094788ff899022c4040b30d519792c881	Within 2 weeks after CTX treatment, the speed of tumor shrinkage had a positive relationship with the dose of CTX used; but the survival rate of the @PHENOTYPICFEATURE$-bearing mice had a negative relationship with the dose of @DISEASE$ used in 2 months after CTX treatment.	false
+46bdf60708fdce3f31c60bb39217ada7cc611600	Caffeine @PHENOTYPICFEATURE$ was inhibited in the muscle with a previous elicitation of @DISEASE$ contracture.	false
+3159d9e002510df9b9993fcbfe6b459f5fcc3c0d	Further analysis showed that major hepatectomy (lobectomy) in @DISEASE$ patients carried higher risks of septicemia and @PHENOTYPICFEATURE$.	false
+a1d148669bebe13c869f93b1d5e54e4d7ed52dce	These similarities can be used in the search for and design of effective pharmacotherapy for AD, since potent therapeutic agents such as insulin, incretins, oral @PHENOTYPICFEATURE$ agents and antioxidants used in the management of @DISEASE$ may play a key role in the treatment of patients with AD.	false
+5bd074ce7105e2992e2a3ad48d2a758c57520a29	@DISEASE$ is a multisystem disease manifesting as an idiopathic inflammatory myopathy, characterised predominantly by cutaneous and @PHENOTYPICFEATURE$.	false
+3913c2cfe9ec8668a264c9e34d319b3de725b79e	@DISEASE$ is associated with a significantly high risk of septicemia and @PHENOTYPICFEATURE$, but not with other major complications or mortality, after hepatectomy for HCC.	false
+d36a60360349e219b645ebdd32c2293fbba3a8e1	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (@DISEASE$), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+e3b569a1cf4bf7952dcd1d3d03b1334894384846	Coinheritance of either neonatal severe @PHENOTYPICFEATURE$ or sucrase-isomaltase deficiency and @DISEASE$ provided a candidate location for the mutated genes on chromosome 3. Homozygosity mapping with polymorphic loci identified a 16 centiMorgan region on chromosome 3q2 that contains the alkaptonuria gene.	false
+443ba8bfcd7ffc63bd764d3a17590e50ade472af	Coinheritance of either neonatal severe @PHENOTYPICFEATURE$ or sucrase-isomaltase deficiency and alkaptonuria provided a candidate location for the mutated genes on chromosome 3. Homozygosity mapping with polymorphic loci identified a 16 centiMorgan region on chromosome 3q2 that contains the @DISEASE$ gene.	false
+439a3fe00f0616ed84b5c7af2392a85dc7aa5e8c	Mixed connective tissue disease (@DISEASE$) is a rare connective tissue disorder with clinical features that overlap with systemic lupus @PHENOTYPICFEATURE$, systemic sclerosis, and polymyositis.	false
+c3dc3fa5ebdfa10462677cde984f437cf2239110	Mixed connective tissue disease (@DISEASE$) is a complex overlap disease with features of different autoimmune connective tissue diseases (CTDs) namely systemic sclerosis, poly/dermatomyositis and systemic lupus @PHENOTYPICFEATURE$ in patients with antibodies targeting the U1 small nuclear ribonucleoprotein particle.	false
+494279be565ca24ad9cb5e1bca3d98182076a9ad	The @DISEASE$ patients had hypergammaglobulinemia more often than did those with SLE and scleroderma, but had less @PHENOTYPICFEATURE$, serositis, nephritis, central nervous system disease and hypocomplementemia than the SLE patients.	false
+e2b137c86a5af461b7c27163121b1f0037da3e32	Mixed connective tissue disease (@DISEASE$) refers to a disease process with combined clinical features characteristic of systemic lupus @PHENOTYPICFEATURE$, scleroderma, and polymyositis-dermatomyositis.	false
+add77bd8aed65ad09116c21477e041b65f14ac4b	Later, his general state gradually deteriorated,with biochemical disturbances (metabolic acidosis, @PHENOTYPICFEATURE$ and hyperglycaemia) and, eventually, a @DISEASE$, with no response to cardiopulmonary resuscitation manoeuvres.	false
+831965dd818f95617b063b351c319612d40357d8	We found a distinctive spectrum of congenital disorders of glycosylation type 2-associated anomalies including sudden hearing loss, brain malformations, wrinkled skin, and epilepsy in combination with @PHENOTYPICFEATURE$, dilated cardiomyopathy, @DISEASE$, abnormal copper and iron metabolism, and endocrine abnormalities in our patients.	false
+33b9e5663d4ea2d8600bdab7464b3d9a58e0f208	Arrhythmias and @DISEASE$ have been described with these tumors, although most electrocardiographic abnormalities will resolve over time, concomitant with the resolution of the @PHENOTYPICFEATURE$.	false
+86fef301782c1cb4721753a8b967ce9123aae103	Arrhythmias and @DISEASE$ have been described with these @PHENOTYPICFEATURE$, although most electrocardiographic abnormalities will resolve over time, concomitant with the resolution of the tumor.	false
+f66317064ff9c9c08792093e47ec7eda51cea67b	The prevalence of @DISEASE$ in patients with early @PHENOTYPICFEATURE$ was 12.5%, which is similar to the general population and was not associated with changes in inflammation markers.	false
+9193ba052425e9915451912892c2459d43b25802	At the end of resection of the @PHENOTYPICFEATURE$, @DISEASE$ occurred after ST segment elevation.	false
+268cf30c0b1504bb22dddd45c93137fc3f76fb62	The men were younger, presented more often with severe left ventricular dysfunction, and had a greater rate of previous myocardial infarction, coronary revascularization, peripheral artery disease, @PHENOTYPICFEATURE$, and @DISEASE$ than the women.	false
+728d88c7a25c1f79f5a1f0c7b822f5e968ea748c	Disseminated microvascular pulmonary @PHENOTYPICFEATURE$ embolism from non-small cell lung cancer leading to pulmonary hypertension followed by @DISEASE$.	false
+fb3420efb79e721fb7c80fd3345ddb7f02dd76e4	MRI studies of children with Attention-Deficit Hyperactivity Disorder (ADHD) have consistently attributed core deficits of inattention and impulsivity to frontal-striatal-@PHENOTYPICFEATURE$; however, no study has investigated the neuroanatomical characteristics of children with ADHD and @DISEASE$ (CD).	false
+35d3204209febd9497beb5f6e8e716ebbfab2f97	The @PHENOTYPICFEATURE$ rapidly enlarged despite accepted therapeutic modalities, and the child died after a @DISEASE$.	false
+11aa84cab15dcfc434c441562321db8eb9851454	To investigate the prevalence of @DISEASE$ in patients with early @PHENOTYPICFEATURE$ and the relationship with inflammation and traditional cardiovascular (CV) risk factors.	false
+2b0a4f58ea59ec0197dcb8f324c6c2fe710bcc29	Liver cyst material was collected through laparoscopic cyst fenestration from 8 patients with @DISEASE$ who had a heterozygous germline @PHENOTYPICFEATURE$ in PRKCSH.	false
+c6808af59c980714a8afb425f4691c799b0ae884	A 59-year-old woman with polycystic liver (@DISEASE$) and kidney disease (PCKD) presented with jaundice, @PHENOTYPICFEATURE$, and abdominal pain.	false
+dd2f2de3a314be733af38fd423c1e7be25db4f29	A 45-year-old man who had undergone splenectomy 20 years earlier for @DISEASE$ (ITP) presented with a fever, arthralgia and vesicular @PHENOTYPICFEATURE$.	false
+910857ee8817bb90b5a3a0fbc825fa5c0710ecb0	Bilateral optic tract @PHENOTYPICFEATURE$, left optic tract haemorrhage and subarachnoid haemorrhage occurred in a 70-year-old man with pituitary apoplexy associated with @DISEASE$.	false
+f5da2aac63aaaf7dc8b5cbe4b7438cdb09f672d9	In our article, we described a clinical case of a patient with an acute periostitis of the maxilla with a comorbidity (primary @DISEASE$, resistant form) who was treated using laser technology allowing us to provide good results: an intensive regeneration process and a decreased risk of developing infection complications and unpleasant signs for the patient, such as postoperative @PHENOTYPICFEATURE$ and intraoperative and postoperative pain syndrome.	false
+4b3253be826c1df80bc44bc28f0fc33e821dbb46	Primary splenic histiocytic @PHENOTYPICFEATURE$ complicated with prolonged @DISEASE$ and secondary bone marrow involvement: a unique surgical case presenting with splenomegaly but non-nodular lesions.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+e3abf00ed13695db82fb8f0fcdc68b9d4760f498	They both presented with severe psychomotor delay, behavioral problems, no speech, @PHENOTYPICFEATURE$, feeding problems with frequent regurgitation, @DISEASE$, obesity, deep set eyes, down turned corners of the mouth, dysplastic ears, and small chin.	false
+32b943d964c679ae6973d3730d3a6f529fefd582	Twenty-three (50%) patients with BD had abnormal sleep, of whom 12 (52%) had @DISEASE$ and 29% had obstructive @PHENOTYPICFEATURE$.	false
+7d9b99f22eae08db1f69ebd9b7f44631d63746d5	Male gender, older recipient age, pretransplant renal dysfunction and hyperuricemia, posttransplant in-hospital renal dysfunction and @PHENOTYPICFEATURE$, and renal dysfunction during the first 6 months after OLT were each significantly associated with the development of @DISEASE$.	false
+2c5a57a2e25337715e4f619f70ef22d65e9d66f9	Male gender, older recipient age, pretransplant renal dysfunction and @PHENOTYPICFEATURE$, posttransplant in-hospital renal dysfunction and hyperuricemia, and renal dysfunction during the first 6 months after OLT were each significantly associated with the development of @DISEASE$.	false
+303d8776411118e0cbd0f2c9a16939b7ba40db69	Recently, experience with this treatment has also been favorable with small numbers of children who have Wiskott-Aldrich syndrome, several types of inherited storage diseases, Fanconi's anemia, thalassemia, @DISEASE$, and selected cases of lymphoma and other solid @PHENOTYPICFEATURE$.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+f9ac51a0101a6362dac00e49f4e032547501c7de	@DISEASE$ (USH1C/harmonin) is associated with profound retinal, auditory and @PHENOTYPICFEATURE$.	false
+cc9532c3b025136122cbb889c21698929dcba57d	We have recently shown that USH1C underlies @DISEASE$ (USH1C), an USH1 subtype characterized by profound deafness, retinitis pigmentosa, and @PHENOTYPICFEATURE$.	false
+52c27e685851dd8c327e33db9c668a67a75ce916	We conducted a French nationwide retrospective study of patients with @DISEASE$ (n=40) and a literature review of cases (n=22) and analyzed the efficacy of disease-modifying anti-rheumatic drugs (DMARDs) and @PHENOTYPICFEATURE$ necrosis factor ? (TNF-?) antagonists.	false
+4ea3cc7ac11bf7fe0292d351d4b528f26ec024f9	Most patients with @DISEASE$ have a benign course, but severe neurological?dysfunction due to bulbar involvement and cranial and @PHENOTYPICFEATURE$ may occur.	false
+d6a581378a044cab9aebb5bc5065124ccb658051	People affected by @DISEASE$ are predisposed to severe infections such as cerebral abscesses, typical of patients with pulmonary arteriovenous malformations, and extra-cerebral infections such as bacteraemia, septic arthritis, osteomyelitis, hepatic abscesses, @PHENOTYPICFEATURE$ and infective endocarditis.	false
+819a0f30570f69bdd337bce102aa64fd6c8042dc	The main condition in the differential diagnosis includes syndromes with telangiectasia such as @DISEASE$ of Rendu-Osler, unilateral nevoid telangiectasia, and neonatal lupus @PHENOTYPICFEATURE$.	false
+6677dfe53ceb406b6e23294dc038c70e2144e1ce	Intra-abdominal @DISEASE$, or mesenteric fibromatosis, are often associated with Familial Adenomatous Polyposis @PHENOTYPICFEATURE$ in a syndrome known as Gardner's Syndrome.	false
+3a546d2697096b09482a1031cf874621a10e6e1e	Accumulation of altered beta-catenin associated with a somatic heterozygous activating @PHENOTYPICFEATURE$ in codon 41 was detected in the typical @DISEASE$ and at the ossifying focus.	false
+750a3f3abe8905988afcae98362011d3f598fd56	Teratoma, @PHENOTYPICFEATURE$ or @DISEASE$ were suspected and the surgical treatment was performed.	false
+2a89f13e3339e243a0bd11ff1faaf4c70090e2a0	An internal examination revealed severe @PHENOTYPICFEATURE$ and hemorrhagic @DISEASE$ arising from the choroid plexus of the right lateral ventricle.	false
+197f91c35b0ad66c256e062fec2733fa3b22610e	This is the first report of a @DISEASE$ invading the brain that was associated with paraneoplastic @PHENOTYPICFEATURE$ and osteomalacia.	false
+56f546b918d52c15a51453f7bc10d2268f13eb8e	But these expressions were not decisive in the differentiation between @DISEASE$ and pancreatic @PHENOTYPICFEATURE$, because CD34 was positive for both tumors, and CD99 and bcl-2 expressions were not elucidated in the previous cases of pancreatic hamartomas.	false
+2ab5c9d7f0aaf9e36dc4482a1d2572da9aed2963	The cause of death was thought to be neurogenic @PHENOTYPICFEATURE$ caused by the rapid growth of a @DISEASE$, with intratumoral hemorrhage.	false
+7bf36d7df76f0538663ab23afedc4996023e17a1	We report a case of giant @DISEASE$( SFT) of the pleura postoperatively complicated with probable reexpansion @PHENOTYPICFEATURE$ and atrial fibrillation.	false
+223f8e559e1d4ff55b549da13ddae19bdc37f71d	The benign primary vascular tumors include hemangioma, @PHENOTYPICFEATURE$, and lymphangioma, whereas those of variable or uncertain biologic behavior include littoral cell angioma, hemangioendothelioma, and @DISEASE$.	false
+4ba49563a9d401d6866f67237ca64b6d25691740	In conclusion, detection of NAB2-STAT6 fusion has a great diagnostic value for pancreatic @DISEASE$ with @PHENOTYPICFEATURE$-like features.	false
+bdb388ca1cecdaa5f704c67edc717b1a24816bd3	During a recent pathologic review, four were seen to have had hemangioma, six @DISEASE$, one @PHENOTYPICFEATURE$, seven fibromatosis, eight fibrosarcoma, and eight unclassified sarcomas.	false
+63df11c22a0182b05bdc829144b61c7c3da57fd4	We report a case of pancreatic hamartoma-like @DISEASE$ which was differentiated from pancreatic @PHENOTYPICFEATURE$ with the detection of NAB2-STAT6 fusion, a specific mutation for solitary fibrous tumors.	false
+742471f7b06dbfd0a58deda8f0a615caff69b015	We report a case of pancreatic hamartoma-like solitary fibrous tumor which was differentiated from pancreatic @PHENOTYPICFEATURE$ with the detection of NAB2-STAT6 fusion, a specific mutation for @DISEASE$.	false
+b13bf307f27d364827a9241855cbe9c2a2da061e	We report a case of pancreatic @PHENOTYPICFEATURE$-like @DISEASE$ which was differentiated from pancreatic hamartoma with the detection of NAB2-STAT6 fusion, a specific mutation for solitary fibrous tumors.	false
+3e9760826a38dfd8b4fdae1f599dbead0400cdce	We report a case of pancreatic @PHENOTYPICFEATURE$-like solitary fibrous tumor which was differentiated from pancreatic hamartoma with the detection of NAB2-STAT6 fusion, a specific mutation for @DISEASE$.	false
+bddae33c6cc53380cf7fbc17a143f8ef5b515d0a	Two cases with a unique association of Rathke's cleft cysts and a @DISEASE$ in the same @PHENOTYPICFEATURE$ tissue are reported.	false
+276218407e964cc42cafbdb85a1fa22227c58901	Histologically, the @PHENOTYPICFEATURE$ was a prolactin-@DISEASE$.	false
+2cf648c690e6c0a53defc6bcc3a346162366c38b	The diagnosis was @DISEASE$, and the @PHENOTYPICFEATURE$ was removed through a transsphenoidal approach.	false
+262091d8254638d3ffc8b3c339c54af5be19eb9c	Collision @PHENOTYPICFEATURE$ composed of meningioma and @DISEASE$ in the sellar region: Case reports and a literature review.	false
+c1c65d209f0cbf2db19cfd13d3510b02f7c2700a	Pathology confirmed a mammo-@DISEASE$ but immunocytochemistry study of the @PHENOTYPICFEATURE$ showed only positivity for PRL but not GH.	false
+b0307d533844519d0223088330b966f9ef853906	Morphologic study revealed a collision @PHENOTYPICFEATURE$; one was a @DISEASE$, the other a gonadotroph adenoma.	false
+8b67cf66563658186a666c23e00688bcb4e003ea	Morphology disclosed a mostly chromophobic @PHENOTYPICFEATURE$, immunoreactive for GH with ultrastructural characteristics of sparsely granulated @DISEASE$.	false
+5b8434f4ba6a0610eebb49ca66f7e02c2652edbc	@DISEASE$ (GHSPA) is a benign @PHENOTYPICFEATURE$ with a high incidence and large economic burden, which greatly affects quality of life.	false
+8820917a7111c1b734093d697c9202104992b4a3	@DISEASE$ regrowing as pituitary adenoma with neuronal choristoma 14 years after @PHENOTYPICFEATURE$ removal.	false
+9da32a1e1f53514dd7ac2d01d0505e5d0ca3f432	Thus it is possible that the tumor was originally a @DISEASE$ that began to produce ACTH as a result of mutations that occurred during @PHENOTYPICFEATURE$ progression.	false
+fe2166ef717a2f446cd80dae067871cf615f41af	Thus it is possible that the @PHENOTYPICFEATURE$ was originally a @DISEASE$ that began to produce ACTH as a result of mutations that occurred during tumor progression.	false
+0149e0a231920938b8d889d010961c94b46f1332	Here we identify PNPLA6 mutations in childhood @PHENOTYPICFEATURE$ in seven families with retinal degeneration, including Leber congenital amaurosis and @DISEASE$.	false
+de2750f3fa3ed742951d80fea092ad0564a112e7	[X-linked @DISEASE$/@PHENOTYPICFEATURE$ (ATR-X) syndrome].	false
+6622638e86067256cb350fb9d5f74b7da296131d	He showed multiple minor anomalies including characteristic facial abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+2bbd796a7dccd5d4accdda513ccc5408d8921985	Although she never had @DISEASE$, she showed characteristic clinical features including @PHENOTYPICFEATURE$, characteristic facies and behavior.	false
+6f50c9fc9516e21ce44d10fb7827958ea946c24c	X-linked @DISEASE$/@PHENOTYPICFEATURE$ (ATR-X) syndrome.	false
+5f890b925034fc5d3b0ce55de6d13efccf718a00	@DISEASE$-@PHENOTYPICFEATURE$, X linked.	false
+d7bc6187e4fe299bc7b5b84159d6c3017cd4ef40	Mutations in the @DISEASE$ mental retardation X-linked (ATRX) gene cause a spectrum of abnormalities including @PHENOTYPICFEATURE$, developmental delay, seizures, and microcephaly.	false
+97e18d6431234c4376e4ddf10e0d75519d8e21e1	Mutations in the @DISEASE$ @PHENOTYPICFEATURE$ X-linked (ATRX) gene cause a spectrum of abnormalities including intellectual disability, developmental delay, seizures, and microcephaly.	false
+ab14f0be9090fc15be84a7f94b13f3ab9cf4299f	Mutations in the @DISEASE$ mental retardation X-linked (ATRX) gene cause a spectrum of abnormalities including intellectual disability, developmental delay, @PHENOTYPICFEATURE$, and microcephaly.	false
+1672c8fd4a926cf29ee8eacbb3cf86aedfe41251	@DISEASE$ @PHENOTYPICFEATURE$ (ATR-X): an atypical family.	false
+0202ed23352220a58f92cc146fa158de5fb9beca	X-linked ATR-X (@DISEASE$, @PHENOTYPICFEATURE$, X-linked) syndrome in males is characterized by mental retardation, facial dysmorphism, alpha thalassemia and urogenital abnormalities, including small testes.	false
+4a1dac793861c926ef578933334fa996b8e5a974	X-linked ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome in males is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, @DISEASE$ and urogenital abnormalities, including small testes.	false
+e81bebb814cf7bcdbd2988b9d9d011b13857f689	X-linked ATR-X (alpha thalassemia, @PHENOTYPICFEATURE$, X-linked) syndrome in males is characterized by mental retardation, facial dysmorphism, @DISEASE$ and urogenital abnormalities, including small testes.	false
+c79aee5b11fb50780295195990dea068edf7dff8	X-linked ATR-X (@DISEASE$, mental retardation, X-linked) syndrome in males is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, alpha thalassemia and urogenital abnormalities, including small testes.	false
+486b597c7941021fa9ad1278198e113bb6afea75	X linked @DISEASE$/@PHENOTYPICFEATURE$ (ATR-X) syndrome.	false
+6b68aead65eb1837d9201f500c7188fc3f92f3e1	The rare association of @DISEASE$ and @PHENOTYPICFEATURE$ has been described previously.	false
+2944a689f8134c0082e899e028843dd945796f02	The evolution after resection by distal pancreatectomy was remarkable for the successive occurrence of a @DISEASE$ which was resistant to a gastric resection, then a hyperglycemia @PHENOTYPICFEATURE$ with ketoacidosis and finally a glucagonoma syndrome.	false
+3acf757cfe2b7aa076c7e4c3524d8ca974e472e2	A 49-year-old woman treated with cimetidine 300 mg tid for more than 18 months for @DISEASE$ experienced lethargy, dizziness, @PHENOTYPICFEATURE$, and auditory and visual hallucinations after receiving triazolam 0.375 mg hs for sleep.	false
+d6ead472063d91fbd34511d20d71d3aeb2ab4074	@DISEASE$ is a rare cause of tumoral @PHENOTYPICFEATURE$; 1 of 5 patients with this syndrome also has multiple endocrine neoplasia type 1.	false
+2f90763099fb120b44d3c126ccb866fa7b771458	An associated syndrome, most commonly the vertebral, anal, tracheosophageal, renal, and @DISEASE$ @PHENOTYPICFEATURE$ association or Holt-Oram syndrome, was present in 44%.	false
+62677857788b9efef6a557cef7bcd40bcf2a27e2	The VACTERL spectrum defects covered vertebral/costal, anorectal, cardiovascular, TEF, and renal- or @DISEASE$-type @PHENOTYPICFEATURE$.	false
+dcb6213be3fbad36c8247eca47aabdb9aef12ebc	VACTERL association is an acronym made of associated defects including vertebral anomalies, anal atresia, cardiac, tracheal-esophageal fistula, and renal/@DISEASE$ @PHENOTYPICFEATURE$.	false
+4f5676f353e2bfff90ff846fd2cd9999e8464533	The possible relationship of such minor features to the @DISEASE$ @PHENOTYPICFEATURE$ in the proposita provides further evidence that the Nager syndrome can be the manifestation of a dominantly inherited disorder with very variable expressivity.	false
+50de85922891b18f321288e9086b1a17c0eb6caf	In total, 13 children with @DISEASE$/DSED met criteria for @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+c98e04b06250fa111b5d89a390ec0fe99623bea0	The most prevalent upper @PHENOTYPICFEATURE$ were @DISEASE$ dysplasia (n?=?12) and hypoplastic thumb (n?=?11).	false
+1c592146ec3979400d76e46b1ad7270e599e5b37	Severe anomalies of the forebrain together with @DISEASE$ @PHENOTYPICFEATURE$ have been reported in Steinfeld syndrome, XK aprosencephaly, and partial monosomy 13q.	false
+92b64e74a519679327c920d519652720112e7a78	Severe @PHENOTYPICFEATURE$ with @DISEASE$ aplasia and hypodactylia are reported in a male newborn with 4p deletion syndrome.	false
+722acc8694dae487c4e97c7abf41cec9edd8b4f9	Vertebral and radial anomalies are prominent features of VATER (vertebral defects, @PHENOTYPICFEATURE$, tracheoesophageal fistula with esophageal atresia, and @DISEASE$ dysplasia) association.	false
+f5c4e7fecfa0e9784755e9c3c8e1c11fef2b3439	We sought to determine whether chronic fetal @PHENOTYPICFEATURE$ @DISEASE$ left ventricular (LV) function in adulthood.	false
+6702c459e9669bcdf18f5ba79894801de3d975a8	Since IgM ELISA, which is diagnostic of scrub typhus may not be widely available, any febrile child coming from rural area with hepatosplenomegaly, pallor, eschar, generalised / regional lymphadenopathy, @PHENOTYPICFEATURE$, leucocytosis, thrombocytopenia and increased Aspartate transaminase (AST) /Alanine aminotransferase (@DISEASE$) should be started on empirical Doxycycline or Azithromycin in order to prevent life threatening complications secondary to delay in therapy.	false
+d2b7b5dcfa2ccc95d03b53207b96eecf0536c7a0	The present study examines the impact of @PHENOTYPICFEATURE$ on visual disability (VD) and how cataract surgery @DISEASE$ VD.	false
+2829fa73851252d6e5aded6abc58a0dd9c8731ff	The present study examines the impact of cataract on visual disability (VD) and how @PHENOTYPICFEATURE$ surgery @DISEASE$ VD.	false
+dd23ddd4c0d2f8a1abef304dbf9555e7197552ff	@PHENOTYPICFEATURE$, a rise in @DISEASE$, peripheral neuropathy and/or gastrointestinal symptoms should prompt healthcare workers to assess for SHLA, especially at between 6 and 18 months on ART.	false
+35251b3875b93b995890d0ce9b66606eaca04178	Sellar hematoma was suspected clinically (worsening headaches, @PHENOTYPICFEATURE$, and mental status @DISEASE$) and confirmed radiographically in 23 patients (18/279 with macroadenomas and in 5/92 with RCC).	false
+223b9192100b0e2e4f4198cd164ed966c81eb5d6	All eight had been treated with @DISEASE$ or with glaucoma filtering surgery prior to the @PHENOTYPICFEATURE$ operation.	false
+c126738087b791b177c1d1bd5526f7d617b4835c	Lenticular @PHENOTYPICFEATURE$ were evaluated using the unaided eye and a slit lamp, and hepatotoxicity was evaluated by determination of peak plasma concentration of alanine aminotransferase (@DISEASE$).	false
+a0b5b69c75ffd55cef082159d6f136a66c9a9882	We used a single session of footshocks in rats, an animal model with a high degree of validity for PTSD, to study whether transient colonic inflammation @DISEASE$ local and distal visceral sensitivity, and whether reactivity to the open-field (low (LA) or high (HA) active) predicts long-term stress-induced behavioural and cardiovascular sensitisation and altered visceral @PHENOTYPICFEATURE$ sensitivity.	false
+612d17ee4585ebb7b3996e51a0ab898efd141446	When the night periods urine in patients with adrenal disorders such as virilizing @DISEASE$, pituitary adenoma, adrenocortical hydroxylase deficiency, Addison's disease, @PHENOTYPICFEATURE$, Cushing's syndrome, pheochromocytoma was analyzed, the respective urinary hormone level corresponding to each disease was significantly changed from the reference interval.	false
+9bc2e5e67733aed094d008d8c73c62b65c5cb2b8	@DISEASE$ (ACC) is a rare and @PHENOTYPICFEATURE$ tumor.	false
+c5ffbff87408e18fa7118e4e8325610ddb19e419	Clinically, the newborns with @DISEASE$ showed dwarfism, midface hypoplasia, bowed extremities with contractures and had severe problems with respiration, feeding, and swallowing as well as episodes of @PHENOTYPICFEATURE$.	false
+6c0a778a46aad2dc5294abc7d5ed1f4b42f708cf	We report the first case of PPV associated with @DISEASE$ and naevus of Ota presenting with malignant hypertension secondary to bilateral @PHENOTYPICFEATURE$.	false
+90f99f2a4a6ed09db27678e168989ab1193755a4	Patients reported as having either neonatal SJS or @DISEASE$ presented a combination of a severe, prenatal-onset neuromuscular disorder (with congenital joint contractures, respiratory and feeding difficulties, tendency to @PHENOTYPICFEATURE$, and frequent death in infancy) with a distinct campomelic-metaphyseal skeletal dysplasia.	false
+c23afd39a1b22f2efe78c9f08dfd42ad0c0d68b1	St?ve-Wiedemann syndrome (@DISEASE$) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from @PHENOTYPICFEATURE$ or apnea.	false
+37cd71a401992503819ad68306a19ee37e10ffc0	The St?ve-Wiedemann syndrome (@DISEASE$) comprises @PHENOTYPICFEATURE$, congenital bowing of the long bones, respiratory distress, and recurrent episodes of unexplained hyperthermia.	false
+8dddff4de245a87631350876c3005b1bf83b9396	Stuve Wiedemann syndrome (@DISEASE$) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, @PHENOTYPICFEATURE$, hypotonia, feeding and swallowing difficulties, and respiratory distress.	false
+eef023aa5ae1fd88978478e83c0a0bd11f5dd69f	Evolution of cortical @PHENOTYPICFEATURE$ and their clinical correlates in @DISEASE$.	false
+bfc5218b69893eb90475dff8e33eda6a3af86a38	Intraventricular lipid A administration enhanced SWS, did not suppress REM, and induced a monophasic @PHENOTYPICFEATURE$; the @DISEASE$ effect had a 3-h latency, whereas temperature started to rise during the second hour.	false
+3c6de4a5314d8c86441448e6eca947536cd6fd0e	The TNFalpha-induced @DISEASE$ enhancement, @PHENOTYPICFEATURE$ and anorexia were all blocked by co-infusion of diclofenac, a non-selective cyclooxygenase (COX) inhibitor, and by pretreatment with NS-398, a COX-2-specific inhibitor.	false
+a7b5b60932b1af54b295be2c0958645d06d0334a	Central nervous system perfusion and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+73aa6382f0fe88f2889da26d6c1a0b45ea1636f5	@DISEASE$ and @PHENOTYPICFEATURE$, which generally abate after cessation of treatment, are the most clinically significant toxicities.	false
+83fbdf6da5723bcdb94c46c216e4165c9290d545	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, @DISEASE$ and Martsolf syndrome).	false
+adf2aa1a3243f0218da59190e16d9926f7e4441a	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (Choroideremia, @DISEASE$ and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+dc1c3fb0901935a4c32ef457f1cd0e2eecce33cf	Effect of oral cortisone on water diuresis in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b2cb306ba683bc2a5ea7135ad52e53bde9f5e74d	Myelolipoma has been found in patients affected by Cushing's syndrome, @PHENOTYPICFEATURE$, @DISEASE$, virilization.	false
+572a6e5b49dde8d758022064f937be8470e5713a	Plasma 17-hydroxycorticosteroids (steroidal dihydroxyacetones) in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e7e95e083ffc7527e33c8acfd4b1bfcab6e6291c	A 22-year-old man was seen with @DISEASE$, psychosis, and @PHENOTYPICFEATURE$.	false
+c0033a19232b4edc214a2b4f6ba47032dfdad403	[@PHENOTYPICFEATURE$ in a 10-years-old boy with @DISEASE$].	false
+933ddd66d3c52c707c27a5c2e2d413fbc5628ef3	Gastric acid secretion and mucosal appearances in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4ddf2363cd609e89481174b732621a450a09128d	Flexion contractures: a forgotten symptom in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bc474c2f8954d661b5130f9e28c32c4563a7b380	They may be associated with an endocrine disorder such as Cushing's disease, @DISEASE$, or @PHENOTYPICFEATURE$; however they are most often discovered incidentally.	false
+d32078012174476036d686bcbd873b8eabccfe63	The following morbidities were analyzed: hypo/hyperthyroidism, hypo/hyperparathyroidism, @PHENOTYPICFEATURE$, Cushing disease, @DISEASE$, diabetes insipidus, diabetes mellitus (DM), pituitary adenoma, acromegaly, and osteoporosis.	false
+17595f64b438342f760f9a3729eb23595cb6c99d	The following morbidities were analyzed: hypo/hyperthyroidism, hypo/@PHENOTYPICFEATURE$, hyperprolactinemia, Cushing disease, @DISEASE$, diabetes insipidus, diabetes mellitus (DM), pituitary adenoma, acromegaly, and osteoporosis.	false
+330b7804e6bdcdde22a5ca11559bb3e2c18b2b03	Discussion on some aspects of renal function in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f30a2ab77758296c968ceba4fbffe076cbaf6067	PNKP and PCDH15 mutations have been reported in autosomal recessive @PHENOTYPICFEATURE$ with early-onset seizures and developmental delay syndrome, and @DISEASE$, respectively.	false
+cd7941869bd4a542dd594e0f92f9052e886c831a	The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, @DISEASE$ and Johanson-Blizzard syndrome), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, hypercholesterolemia, @PHENOTYPICFEATURE$ and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis.	false
+6e9bd668b7785f4142b135d045b49b3b83362d02	The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, @DISEASE$ and Johanson-Blizzard syndrome), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, @PHENOTYPICFEATURE$, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis.	false
+aab8b1ba8a7e9f27368125eded69ff5b5ec71ffc	The mutation analysis of the boy identified a novel de novo @PHENOTYPICFEATURE$ in PSTPIP1, the gene responsible for @DISEASE$.	false
+1a9cc180af196d6998de91cb4ebb33acb615bb7e	On bivariate analysis, fundal fluid size was associated with larger @PHENOTYPICFEATURE$ size (p?=?0.005) but not changes in postoperative PTA (p?=?0.45) or @DISEASE$ (p?=?0.17).	false
+79984a42cd7511c0475e0796f6c5fe5877bcf7b8	Using multivariate linear regression models adjusting for patient age, sex, @PHENOTYPICFEATURE$ nerve of origin, neurofibromatosis type II status, and preoperative PTA and WRS, superior vestibular nerve tumor origin but not increasing fundal fluid size was associated with preserved postoperative PTA or @DISEASE$.	false
+0ced40d01318fe3dd021a50e6853f32d020deae4	Using multivariate linear regression models adjusting for patient age, sex, @PHENOTYPICFEATURE$ nerve of origin, neurofibromatosis type II status, and preoperative PTA and @DISEASE$, superior vestibular nerve tumor origin but not increasing fundal fluid size was associated with preserved postoperative PTA or WRS.	false
+6ab1efb1d423c4c800f830cc6f26417b910eb061	Both @PHENOTYPICFEATURE$ size and pre-operative @DISEASE$ were related to post-operative WRS (p<0.01).	false
+4b797d757ac848465530c02cf70462112a89012e	Patients with word recognition scores (@DISEASE$) of 50% or poorer had @PHENOTYPICFEATURE$ with a larger volume (P?=?.0002), larger linear size (P?=?.032), and NF2 (P?=?.045).	false
+51cba08796dc0f5f5900d57ced00417aabfe1635	Two-way analysis of variance found significant differences in AHDR, risk of significant hearing loss, and risk of critical difference in @DISEASE$ based on baseline hearing level (abnormal or normal) and IAC @PHENOTYPICFEATURE$ volume (greater or less than 200 mm).	false
+a274f97fa463165005234d966e29abf2aab17d8c	We present the case of a child who underwent a combined liver, pancreas and double kidney transplant following complications of @DISEASE$ (WRS) a rare genetic disorder that causes infantile insulin-dependent diabetes mellitus (IDDM) and often @PHENOTYPICFEATURE$ from fulminant liver and concomitant kidney failure.	false
+56e06c32d4cfe0d31405b89ff7f06ac11762501c	We present the case of a child who underwent a combined liver, pancreas and double kidney transplant following complications of Wolcott-Rallison syndrome (@DISEASE$) a rare genetic disorder that causes infantile insulin-dependent diabetes mellitus (IDDM) and often @PHENOTYPICFEATURE$ from fulminant liver and concomitant kidney failure.	false
+8c59d1b6688922893d7de28b0e5ec1ffea89c094	@DISEASE$ enhances Wnt/?-catenin signaling and @PHENOTYPICFEATURE$ burden in colon cancer.	false
+aa4f26206dea0c7b509a9053af508ab56c081fdb	Different phenotypes of sleep-related problems may mimic several sleep disorders, including @DISEASE$, narcolepsy without cataplexy, sleep apnea syndrome, and periodic leg @PHENOTYPICFEATURE$.	false
+8df3c63aacb448ecd713de3de27f9828a60c9bfd	This article provides eight vignettes on patients with sleep disorders including narcolepsy, @DISEASE$, obstructive sleep apnea, restless legs syndrome, and rapid eye movement @PHENOTYPICFEATURE$.	false
+ab0380848a17e3c90902cd802cbd61977cda70af	Comorbidities, which were multiple in some subjects, included anxiety (8/15), attention deficit disorder (10/15), nonspecific developmental delay (6/15), Smith-Magenis syndrome (1/15), @PHENOTYPICFEATURE$ (1/15), narcolepsy (1/15), @DISEASE$ (1/15), and Moebius Syndrome (1/15).	false
+a2c2163a8bc35fac3df31079377fd6be5ef95518	This review details most of those disorders, including narcolepsy with and without cataplexy, @DISEASE$ with and without long sleep time, recurrent hypersomnia, behaviorally induced insufficient sleep syndrome, hypersomnia due to medical condition, hypersomnia due to drug or substance, hypersomnia not due to a substance or known physiologic condition, and also sleep-related disordered breathing and periodic leg @PHENOTYPICFEATURE$.	false
+ad6a8758073db7e663954a625926dd2bffd325c6	Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to defects in epidermal cornification in lamellar ichthyosis and acral peeling skin syndrome, respectively; loss of TG3 crosslinking in hair-cuticle formation leads to uncombable hair syndrome; the predicted loss of TG6 crosslinking leads to spinocerebellar @PHENOTYPICFEATURE$-35; and loss of the structural erythrocyte membrane protein, protein 4.2, leads to @DISEASE$.	false
+11a0a988a7a6e5d8ae027ea1ee4b1f7635148c0e	4 men aged 35, 36, 48 and 62 years are described with different stages of @DISEASE$ and loss of peripheral vision, which progressed to tunnel vision and partial @PHENOTYPICFEATURE$.	false
+2d083e74cb0412e6b0173d705141f82023a455cd	The inward rectifier current I(K1) is tightly regulated regionally within the heart, downregulated in @PHENOTYPICFEATURE$, and genetically suppressed in @DISEASE$.	false
+d331c3ffa1cf6f37bdaf6eea41bdd4d9b93549c6	@PHENOTYPICFEATURE$ in patients with @DISEASE$ can be considered as a feature of this disease.	false
+706ca0dbf7a1704718847287e5805d87e031868a	Here we present evidence that the MTS is seen together with polymicrogyria, V?radi-@DISEASE$ (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical @PHENOTYPICFEATURE$.	false
+407d90e4909fb5f66ed464157d205717c32b70f2	[Ciliary hypertrichosis and @PHENOTYPICFEATURE$ associated with diffuse, congenital hypertrichosis: @DISEASE$?].	false
+cc093463b38dd8611123dd9a7767745049f945ba	Bilateral disc @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+cf4c5761c0cbdabbccadf22a57eedd860da664e0	@DISEASE$, a severe bilateral granulomatous intraocular inflammation associated with serous retinal detachments, disk @PHENOTYPICFEATURE$, and vitritis, with eventual development of a sunset glow fundus, is an autoimmune inflammatory condition mediated by T?cells that target melanocytes in individuals susceptible to the disease.	false
+5c51667ad490572ce801e53331c5af7c52b51c02	Surprisingly, we were unable to restore spine morphology or @PHENOTYPICFEATURE$-associated social behavior in NOMA-@DISEASE$-deficient animals by Cre-mediated deletion of Cdc42 alone.	false
+7be380a763ac2882a0d7a77bd2897e9f2cbb5479	The preparation and consumption of bone broth is being increasingly recommended to patients, for example as part of the gut and psychology syndrome (@DISEASE$) diet for @PHENOTYPICFEATURE$, attention-deficit hyperactivity disorder, dyslexia, dyspraxia, depression and schizophrenia, and as part of the paleolithic diet.	false
+dbc292d5ac7f33a6558d93d3eb507abfed4065db	Whereas the nervous system is rarely affected in patients with the @DISEASE$, @PHENOTYPICFEATURE$ has been reported in three previously published cases and is suggested in our own patient.	false
+d6e7e8663690f0c0c9d66d0b6cff7e518b82ef97	It is characterized by brachycephaly, @DISEASE$, palate/lip defects, dental malocclusion, short neck, split nails, @PHENOTYPICFEATURE$, toe and finger defects, and minor skeletal defects.	false
+8db7750540fcef028027b539aabb523412a3437f	Bitemporal hemianopsia in @DISEASE$, callosal agenesis, basal @PHENOTYPICFEATURE$ and eye abnormalities.	false
+2c14534e3ba41fd0f9b558cebacba27be399a5fe	Our patient has a FLNA missense mutation (c.220G?>?A) and presented with cerebral @DISEASE$, @PHENOTYPICFEATURE$, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius.	false
+01096fcd9850cec7ebe8c1f520f8c40718cb3538	Only patients with @DISEASE$ and cutaneous lesions different from typical @PHENOTYPICFEATURE$ were included.	false
+112e7b9606c857191a87a74d65b21432ebbd05a4	Autosomal dominant myoclonus-dystonia syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ and/or dystonic movements with onset as early as infancy.	false
+b652d648d4ffccf32ea587dac4ae8038ff2582a2	We used massively parallel sequencing to examine @PHENOTYPICFEATURE$ samples collected from 87 patients with @DISEASE$ before HSCT for coding mutations in 40 recurrently mutated MDS genes.	false
+0e863c9f89dea55f3fe0e6b50d75f3e514d208b3	We used massively parallel sequencing to examine @PHENOTYPICFEATURE$ samples collected from 87 patients with MDS before HSCT for coding mutations in 40 recurrently mutated @DISEASE$ genes.	false
+d7328eaf5dac8b4f133ce7489c7e974f6f11e4c4	Myelodysplastic syndromes (@DISEASE$) and MDS/myeloproliferative @PHENOTYPICFEATURE$ (MDS/MPN) can be associated with giant cell arteritis (GCA).	false
+23f88a057ff182c4a0c5bbd9490670f5868e891a	Myelodysplastic syndromes (MDS) and @DISEASE$/myeloproliferative @PHENOTYPICFEATURE$ (MDS/MPN) can be associated with giant cell arteritis (GCA).	false
+5c7321805f2e7ce07b3ffdda862ce2b5405283f6	Myoclonus-dystonia syndrome (@DISEASE$) is an autosomal dominant disorder characterized by bilateral @PHENOTYPICFEATURE$.	false
+7bafa925e075e9104264a6212c147f14bb97e64b	Several reports revealed that about 10% of @DISEASE$ patients have clinical autoimmune disorders like skin @PHENOTYPICFEATURE$, rheumatic disease, or autoimmune hemolytic anemia.	false
+51de85fe0bb1499cf08d700c14c947cdb6b28d3a	MDS subtypes were distributed as follows: MDS with single-lineage dysplasia (n = 10); MDS with multi-lineage dysplasia (n = 10); MDS with ringed sideroblasts (n = 4); MDS with excess blasts-1 (n = 9); MDS with excess blasts-2 (n = 13), MDS unclassified (n = 5); 5q-syndrome (n = 6); and @DISEASE$/myeloproliferative @PHENOTYPICFEATURE$ (n = 3).	false
+f17cbdeafd3c5defd34944aa8bd5cd3079da953f	MDS subtypes were distributed as follows: MDS with single-lineage dysplasia (n = 10); MDS with multi-lineage dysplasia (n = 10); MDS with ringed sideroblasts (n = 4); MDS with excess blasts-1 (n = 9); @DISEASE$ with excess blasts-2 (n = 13), MDS unclassified (n = 5); 5q-syndrome (n = 6); and MDS/myeloproliferative @PHENOTYPICFEATURE$ (n = 3).	false
+c3f8fdbc596f599a9b0c5d349b9543d4ded5367e	MDS subtypes were distributed as follows: MDS with single-lineage dysplasia (n = 10); @DISEASE$ with multi-lineage dysplasia (n = 10); MDS with ringed sideroblasts (n = 4); MDS with excess blasts-1 (n = 9); MDS with excess blasts-2 (n = 13), MDS unclassified (n = 5); 5q-syndrome (n = 6); and MDS/myeloproliferative @PHENOTYPICFEATURE$ (n = 3).	false
+f539952238096dd5a7c74d3e04f9bd6128fc148f	MDS subtypes were distributed as follows: MDS with single-lineage dysplasia (n = 10); MDS with multi-lineage dysplasia (n = 10); MDS with ringed sideroblasts (n = 4); @DISEASE$ with excess blasts-1 (n = 9); MDS with excess blasts-2 (n = 13), MDS unclassified (n = 5); 5q-syndrome (n = 6); and MDS/myeloproliferative @PHENOTYPICFEATURE$ (n = 3).	false
+e385bd11cab9d655c3f249b3d994816beb2cb833	MDS subtypes were distributed as follows: MDS with single-lineage dysplasia (n = 10); MDS with multi-lineage dysplasia (n = 10); @DISEASE$ with ringed sideroblasts (n = 4); MDS with excess blasts-1 (n = 9); MDS with excess blasts-2 (n = 13), MDS unclassified (n = 5); 5q-syndrome (n = 6); and MDS/myeloproliferative @PHENOTYPICFEATURE$ (n = 3).	false
+390059a852ef945763bb04217ef4e4d8ca7f4941	We describe a case of acquired monosomy 7 myelodysplastic syndrome (@DISEASE$) in a boy with congenital adrenocortical insufficiency, @PHENOTYPICFEATURE$, growth delay, skin hyperpigmentation, and chronic lung disease.	false
+2dd75cf2d455de20e7ed4dc4bd21991acf1f7c7f	Two groups of subjects were admitted to the study: (A) 20 adult clinically healthy subjects, and (B) 20 patients with @DISEASE$ without @PHENOTYPICFEATURE$.	false
+7d19428e4224cef61ca9549c278eae13acf2f6f7	Clinical trials using clofarabine in MDS and @DISEASE$/myeloproliferative @PHENOTYPICFEATURE$ have produced overall response rates of 31 - 43% including complete responders.	false
+018d79908d9eb3d82fcf13a3595b186a4af4b431	Clinical trials using clofarabine in @DISEASE$ and MDS/myeloproliferative @PHENOTYPICFEATURE$ have produced overall response rates of 31 - 43% including complete responders.	false
+ff2db9ea867ced5144c040d77a2da3d924640f92	Assessment (baseline and 12-week endpoint) included peripheral MAPK assay, awake magnetic resonance imaging spectroscopy (MRS; GABA and glutamate+glutamine (Glx)), arterial spin labelling (ASL), apparent diffusion coefficient (@DISEASE$), resting state functional MRI, and @PHENOTYPICFEATURE$ outcomes (Aberrant Behaviour Checklist and Clinical Global Impression).	false
+6726e8a7020f367e1490432e9234c399df0fc18b	Patients were treated by "Jin's three-needling" as the main measure with the assistance of behavior intervention, and the changes were compared among the three groups (29 cases in combination group, 15 cases in acupuncture group and 10 cases in intervention group) before and after treatment of various factors and scores estimated by the autism behavior checklist (ABC) and @PHENOTYPICFEATURE$ development checklist (@DISEASE$).	false
+438bbee09636824263b3e7509e6e6c9dea45e109	@DISEASE$ type 1 (SCA1) is a genetic @PHENOTYPICFEATURE$ with neuronal loss in the cerebellum, brainstem, and other cerebral regions.	false
+2e5d18075169990babcbacf48ea097d2a4d10c14	These results show that CSF HIV-1 RNA concentrations correlate well with @DISEASE$ severity but may also be increased by @PHENOTYPICFEATURE$, such as cryptococcal meningitis.	false
+25d3275498f4d1308667d3cd1349a091e7c7d1ac	A case of @DISEASE$ with respiratory chain defect and @PHENOTYPICFEATURE$ is reported.	false
+e8013f3660645040666911bca346844fb5cfbd32	[@DISEASE$ with @PHENOTYPICFEATURE$: a neurocristopathy].	false
+dc759b7f2f216f64cd8fc9622f8f6d769767ca10	Because most of the facial skeleton originates from the neural crests, which are strictly connected with the Central Nervous System development, the authors speculate that the @PHENOTYPICFEATURE$, observed in Leigh syndrome, are dependent on neural crest development disturbances (dysneurulation) and related to neurological features and that @DISEASE$ is a neurocristopathy.	false
+258b1f933769eaba74c0acf14eb70fcaeaf7f591	Because most of the facial skeleton originates from the neural crests, which are strictly connected with the Central Nervous System development, the authors speculate that the @PHENOTYPICFEATURE$, observed in @DISEASE$, are dependent on neural crest development disturbances (dysneurulation) and related to neurological features and that Leigh syndrome is a neurocristopathy.	false
+3c80d21a6dd6fb88b605f1119b6abc4c6a1091e4	Mutations in thiamine transporter, TDP synthesizing enzyme or?carrier, including solute carrier family 19 member 3 (SLC19A3), thiamine pyrophosphokinase (TPK1) and solute carrier family 25 member 19 (SLC25A19), have been associated with developmental neurological disorders, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1ab65ab622f0967718eeb97d5fc14dc58d4f1921	Other common features include @DISEASE$, @PHENOTYPICFEATURE$, and liver disease (Robinson et al. 1998).	false
+9f0e2353e21d0e5f16e668c1118b597eb0db77e0	Patients with @DISEASE$ and SURF1 mutation often have skin and @PHENOTYPICFEATURE$.	false
+544aade22213e50052e83bd7e77697c776c3896e	Neuropathologic evaluation reveals a striking spongiform degeneration of the cortex and specific brain stem nuclei associated with gliosis and intramyelinic vacuolization similar to that observed in cytotoxic @PHENOTYPICFEATURE$ and disorders associated with mitochondrial abnormalities such as @DISEASE$ and Canavans disease.	false
+69c2de93531c8beb945d682cd9a8f4c1fa0b4459	In case of @PHENOTYPICFEATURE$ in infancy @DISEASE$ with respiratory chain defect should be investigated.	false
+4b22aed32b4543867f3646a048699874d3a56fd0	Side-effects of therapy included hepatic transaminase elevations, myalgias, thrombocytopenia, nausea, @PHENOTYPICFEATURE$, decrease in performance status, and @DISEASE$.	false
+e456c0ca51ec861edbd658d6834a94244eeb168e	Here we report a case of pediatric idiopathic @DISEASE$ with an episode of cough and fever followed two days later by myalgia, livedo, acrocyanosis, and five days later by edema, tachycardia, hypotension, and @PHENOTYPICFEATURE$.	false
+426a90c64bf688d4e52e150251291ba4a886cf65	Coffin-Lowry syndrome (@DISEASE$) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with @PHENOTYPICFEATURE$ and skeletal malformations.	false
+d00ca1bf6f2b1b01dacb6b2504f368dd343dbc64	Toxic symptoms noted at the second dose level included nasal congestion, diarrhea, @PHENOTYPICFEATURE$, fatigue, anorexia, headache, dyspnea, and @DISEASE$ (median weight gain, 6.1%; range, 3.4% to 11.7%).	false
+a19fa39ca37e96f2a301e496bc65466f83e49bee	The main toxicities were severe neuropathic pain, fever, nausea/@PHENOTYPICFEATURE$, urticaria, hypotension, mild to moderate @DISEASE$, and neurotoxicity.	false
+f5210c378899f5db684639b14215b19f7a84a19d	No other toxicity, including @DISEASE$, @PHENOTYPICFEATURE$ and fever, were significantly influenced by the concomitant treatment with MLT.	false
+d1e530f481cf302b0650138317b335a707917153	Coffin-Lowry syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, characteristic facial and digital findings and skeletal anomalies.	false
+10fbeb662e57491b9b6dc4415ebc623390137325	It should be noted that hyponatremia induced by renal @DISEASE$ @PHENOTYPICFEATURE$(RSWS)was considerd to be the cause, and we report our case with the literature cited.	false
+282a01910b774f867c1830d6ba6287d96f3806a1	Optic nerve hypoplasia (ONH), a leading cause of pediatric @PHENOTYPICFEATURE$, is associated with brain malformations and hypopituitarism in the constellation known as @DISEASE$.	false
+08c7abe738ba34afeb62c14c7743a395428dd977	Maternal @PHENOTYPICFEATURE$ delayed prostate maturation, and increased mast cell number catalase (CAT), superoxide dismutase (@DISEASE$), glutatione-s-transferase (GST-pi), and cyclooxygenase-2 (Cox-2) expression in the offspring of hyperglycemic dams.	false
+7fbd70564e8f32cda1911b1a59211c1634625935	Myocardial I/?R treatment induced significant cardiac dysfunction, including @PHENOTYPICFEATURE$ (VA) and a reduction of left ventricular systolic pressure (LVSP), cardiomyocyte apoptosis and oxidative stress, manifesting as an increase in malondialdehyde (MDA) production and a decrease in superoxide dismutase (@DISEASE$) activity.	false
+e0d338ced6dc80945293c200d21ffe14d73e752f	However, the expression levels of bcl-2 and KATP and superoxide dismutase (@DISEASE$) activity were decreased by @PHENOTYPICFEATURE$; the expression level of Nox4 and the ADP/ATP ratio were increased by hyperglycemia.	false
+9ff277642db9205e06abb39fd06174362d1293b8	The presence of bilateral @PHENOTYPICFEATURE$ in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of @DISEASE$ with limb anomalies.	false
+88757c5ea6e8ebbcdb76d99d73ec219457704f37	The congenital Long QT Syndrome (LQTS) is characterized by abnormally prolonged ventricular repolarization due to inherited defect in cardiac @DISEASE$ and potassium channels, which predisposes the patients to syncope, @PHENOTYPICFEATURE$, and sudden cardiac death.	false
+faf6f403ce48765476cdc82f3cf1777b9089477e	The congenital long QT syndrome (LQTS) is characterized by abnormally prolonged ventricular repolarization due to inherited defects in cardiac @DISEASE$ and potassium channels, which predispose the patients to syncope, seizure like activity, @PHENOTYPICFEATURE$, and sudden cardiac death.	false
+8eedf929f3a01ed2250278fdbd9bf1dd35212fd9	@PHENOTYPICFEATURE$ affects @DISEASE$ and potassium excretion, likely via the pH sensitivity of ion transporters.	false
+bbf4d8c09518f9c5db141062b845e77106d259eb	The mean arterial pressure (MAP), heart rate (HR), ST-segment, @PHENOTYPICFEATURE$, and CK-MB, cTnI, and superoxide dismutase (@DISEASE$) activity were measured after 0 and 30 min of ischemia and after 120 min of reperfusion.	false
+074fceb121b4153a375b6df7a6b39393a267d79e	Congenital @DISEASE$, associated in this case with mental retardation, seizure disorder, and @PHENOTYPICFEATURE$.	false
+44a4234407354a88dc3263f779cd42a6725bf2e4	A case of idiopathic @DISEASE$ with @PHENOTYPICFEATURE$.	false
+c29c65365b088685e0c39629bf24cdbe1c877ac5	It is characterized by congenital @DISEASE$, severe prenatal and postnatal growth retardation, and distinct @PHENOTYPICFEATURE$.	false
+f77f159e458230481ef0fe62c17d53c26183758e	A patient of @PHENOTYPICFEATURE$ with idiopathic @DISEASE$ round face and metacarpal signs.	false
+9ba1c53580b9fb0607f1fbc9a59024ce8c6fb531	Common features are @DISEASE$, deafness, renal anomalies, @PHENOTYPICFEATURE$, and mental retardation, with phenotypic variability.	false
+1ef726e0a768e7a8b3207d999a6883fe25cefcad	Autosomal dominant @DISEASE$ associated with @PHENOTYPICFEATURE$ and premature osteoarthritis.	false
+f942b17be9a12e498a52d014ef5dc55880b19578	deletion, and include hypocalcaemia due to primary @DISEASE$, @PHENOTYPICFEATURE$ and thyroid dysfunction.	false
+cff6cc95d847df2cf13fffac01cab1f22493aa61	@PHENOTYPICFEATURE$, mental retardation, and @DISEASE$: a new syndrome.	false
+1a4e133b8a354257e97c6373f0d9b20a45e30e25	We report 13-year-old Hindu boy with @DISEASE$, tetany, @PHENOTYPICFEATURE$ and developmental delay, compatible with HRD syndrome.	false
+e247fe94cb9cbd30937624a06b3596a98d382702	To determine the frequency and expression of @DISEASE$ and the factors of @PHENOTYPICFEATURE$ in 22q11.2	false
+6327a10109a693483ecfe85216168c125c1aed70	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, microcephaly, hypotonia, epilepsy, @DISEASE$, pontocerebellar abnormalities, failure to thrive, liver dysfunction, lower extremity @PHENOTYPICFEATURE$ and dysmorphic features.	false
+21169cd4059eb758f6809da8cdb2f7d8e50b6acf	By exome sequencing, we have identified compound heterozygous mutations in the gene encoding the shared GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, microcephaly, hypotonia, epilepsy, @DISEASE$, pontocerebellar abnormalities, @PHENOTYPICFEATURE$, liver dysfunction, lower extremity edema and dysmorphic features.	false
+01cd015969552c0231392b13224db5d7b23dd4b7	We describe a girl who was diagnosed with split foot-split @PHENOTYPICFEATURE$ prenatally, in whom at birth the diagnosis of Van Allen-@DISEASE$ was made, and who at 8 months of age was recognized to have Goltz syndrome.	false
+3cea7f67568b79b912feda6ecdd96af26b336002	To assess the relative impact of various cardiac magnetic resonance (CMR) imaging variables, such as infarct size, LVEF and @DISEASE$, on pre- and post-discharge @PHENOTYPICFEATURE$ (HF).	false
+74bca73079e7b796936e9bb5c4db54ecb1f67102	We report a case of a 17-month-old child affected by @DISEASE$ who had unusually rapid @PHENOTYPICFEATURE$ of the left frontal, temporal, orbital, and maxillary regions.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+7b98edfa1d1501e551b49e2fc41b615448015213	Subcutaneous AT @DISEASE$ was positively associated with scAT fibrosis and @PHENOTYPICFEATURE$-related co-morbidities such as hypertension, glycemic status, dyslipidemia and liver dysfunction.	false
+1eda790621f9ea1c97a4784ee55476d1cdf46d1e	@DISEASE$: soft-tissue and skeletal @PHENOTYPICFEATURE$.	false
+ffba6547dc71ae58965f6fbb249833f547f6830d	In conclusion, facial hypertrophy is a major component of @DISEASE$; these patients should be counseled about the risk of @PHENOTYPICFEATURE$ and about the types of possible operative correction.	false
+d2562e44ed38219aa1fba00d023418079741b24c	Somatic overgrowth conditions, including Proteus syndrome, @DISEASE$, and PIK3CA-related overgrowth spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous @PHENOTYPICFEATURE$.	false
+7b1e8fdb0662a440e8b247f11f87998e02021154	Somatic overgrowth conditions, including Proteus syndrome, @DISEASE$, and PIK3CA-related @PHENOTYPICFEATURE$ spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth.	false
+07083440b8cdb8838a94affd96411f7d50a215ab	In group 2, 47 patients with @DISEASE$ were treated at our center: 83% had facial @PHENOTYPICFEATURE$, either a localized cutaneous lesion (18.0%), soft-tissue enlargement (70.0%), or bony hypertrophy (45.0%).	false
+ca86e668c83a954f7a8cfeb189054fbf3769017a	@DISEASE$ (SWS) is characterized by capillary malformation, glaucoma, leptomeningeal vascular anomalies, and variable facial @PHENOTYPICFEATURE$.	false
+88d6400a5f27ae9a27b769d4920b8524ea6b4b20	Sturge-Weber syndrome (@DISEASE$) is characterized by capillary malformation, glaucoma, leptomeningeal vascular anomalies, and variable facial @PHENOTYPICFEATURE$.	false
+af3e126af089584748681d5c4e1675a97e408bc7	The relation between @PHENOTYPICFEATURE$ and Social Withdrawal Syndrome (@DISEASE$) was examined using the data gathered by Rotenberg, Bharathi, Davies, and Finch (2013).	false
+9249fa5a1871db3c9f054df8c817872e8e65ac72	There was a significant @PHENOTYPICFEATURE$ in the patients with @DISEASE$.	false
+6a99162a51ebda45ffe7f3eff2850eb3b4c06925	A young primigravida, with sickle cell (Hb SS) disease and @DISEASE$ presented at 37 weeks of gestation with fever, chills, and lower @PHENOTYPICFEATURE$ in the presence of intact fetal membranes, 10 days after recurrent marsupialization of a Bartholin abscess.	false
+6b81f18edb8e7011c8461734308207c74e623825	A 7 year-old boy with homozygous @DISEASE$/hemoglobin E presented with recurrent @PHENOTYPICFEATURE$.	false
+fcd2bf359dee61bf86c1f61743723630ca576f95	An extraordinary form of the @DISEASE$ successfully treated with the @PHENOTYPICFEATURE$ necrosis factor-? blocker adalimumab.	false
+b20965a486ea6b63a9ca42d655dba66b8643c02e	The aetiology was as follows: idiopathic (Bell's palsy) in 60 cases, viral in 29, traumatic in 18, postoperative in 4, in connexion with chronic otitis media in 6, diabetes mellitus in 4, positive rheumatological tests in 3, disturbed lipid metabolism in 2, the @DISEASE$ in 1, as a complication of pregnancy in 2, and in association with a @PHENOTYPICFEATURE$ in 1 case.	false
+ad10f681288f78c6b1f389574254e454d97432c6	Facial palsy concerning cranial nerve VII can also be caused by other conditions such as mastoid fracture, acoustic neurinoma, @PHENOTYPICFEATURE$ spread to the temporal lobe (e.g., cholesteatoma), neoformation of the parotid gland, @DISEASE$, and Ramsay-Hunt syndrome.	false
+b58072c8343a565f7025e6dcf9c5883760d27dfc	Under adalimumab, total remission of all symptoms was achieved, indicating that @PHENOTYPICFEATURE$ necrosis factor-? blockers are a promising therapeutic option for patients with @DISEASE$.	false
+93c1371fe8ae32296a64bc912c01d1d157e90950	@DISEASE$ is a rare form of hereditary angioedema characterised by a triad of symptoms of which incomplete (oligo- or monosymptomatic) forms have been described, frequently associated with dysreactive diseases or @PHENOTYPICFEATURE$.	false
+f44ebce489cfbacf7453f1e2428586a5230f3e14	otitis media/mastoiditis, and @PHENOTYPICFEATURE$, trauma, congenital facial palsy, chickenpox, @DISEASE$, enlarged lymph nodes, and familial Mediterranean fever (each 1; 1.2%).	false
+4b4c709bf288d564304d29b2be64548f7b060837	It is already becoming apparent that pathological protein aggregation may be a common link in the neuronal degeneration underlying such diverse entities as spinocerebellar @PHENOTYPICFEATURE$, @DISEASE$ and Parkinson's disease.	false
+cb632292883ef8b9c62b8fbf9f201e99c4c3d5b2	Lack of C9orf72 expansion in 406 @PHENOTYPICFEATURE$ and familial cases of @DISEASE$ in Japan.	false
+a74ea56be8c24f0164d5b362228ece77b6854d75	genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, @DISEASE$, epilepsy, and @PHENOTYPICFEATURE$, therefore revealing cis-genetic effects leading to complex phenotypes.	false
+7f5a1bff7700af9d349a09360e3f4e696286db93	[Syndrome of @DISEASE$ with @PHENOTYPICFEATURE$ and retinitis pigmentosa].	false
+078eb152faee555474e5bc5678640bc71599ccc4	Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, familial dysautonomia, @DISEASE$, Marfan's syndrome, and Ehlers-Danlos syndrome.	false
+481a2ae3405f50ff0dee0d6299e76dcebfe23092	Children with allergies, very low birth weight, developmental delay, diabetes, @PHENOTYPICFEATURE$, @DISEASE$, birth abnormality, speech problems, intellectual disability and attention-deficit/hyperactivity disorder had lower numeracy scores than those without any of these conditions (P?<?0.05).	false
+f7fd7b3394ec9bec134717faa19a6f48f15c58d8	Children with allergies, very low birth weight, developmental delay, diabetes, spina bifida, @DISEASE$, birth abnormality, speech problems, @PHENOTYPICFEATURE$ and attention-deficit/hyperactivity disorder had lower numeracy scores than those without any of these conditions (P?<?0.05).	false
+61ff2d69093bd6531ab43d37bbf6d34dc225cd51	The sample included children with cerebral palsy (19), @PHENOTYPICFEATURE$ (23), and @DISEASE$ (27).	false
+1409ffe65717291e9344d3c3c1bc0d72265b05bf	The neurological status of each child was assessed as normal or impaired (cerebral palsy, seizures, @PHENOTYPICFEATURE$, spasticity), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, @DISEASE$, bronchopulmonary dysplasia, asthma, etc), and congenital malformations and syndromes were identified.	false
+9476f8a71f056dde6fffc3a8a5c7134adf7b9ac3	The neurological status of each child was assessed as normal or impaired (cerebral palsy, seizures, mental retardation, @PHENOTYPICFEATURE$), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, @DISEASE$, bronchopulmonary dysplasia, asthma, etc), and congenital malformations and syndromes were identified.	false
+12a87a998dafa8fd86acb796300b784e0c16941b	The neurological status of each child was assessed as normal or impaired (cerebral palsy, @PHENOTYPICFEATURE$, mental retardation, spasticity), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, @DISEASE$, bronchopulmonary dysplasia, asthma, etc), and congenital malformations and syndromes were identified.	false
+5d3a82736e0b3bd93c6f2229b692598fdf06c34c	Mutations in ABC transporters genes cause seriuos deseases like @DISEASE$, adrenoleucodystrophy or @PHENOTYPICFEATURE$.	false
+43110c7bd01c4a5dab80fa6707a866f6374b7ac5	Sport and recreation activities and opportunities for children with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ba89a57f5e4f50af8082da2a290a5b04c94b3bc2	Participants comprised 62 school-aged children (16 with diabetes, 16 with @DISEASE$, 15 with @PHENOTYPICFEATURE$, and 15 with no chronic illness).	false
+2aea5f57ef908c9ccd6e3454ad7e8c59fe38571c	Case 6. Abnormal facies and @PHENOTYPICFEATURE$ in a patient with @DISEASE$ of the pancreas.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+f13627549facd22130d363c19919ec1935710159	Family resources and stress: a comparison of families of children with @DISEASE$, diabetes, and @PHENOTYPICFEATURE$.	false
+c5584b07a0853e15eb04a74924d011472a0d52fe	Qualitative data were collected during home interviews with the mothers of children with diabetes, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+7be5dc78fcdc07acdcc93a9a89b90e792939f9d6	To assess the utility of urinary @PHENOTYPICFEATURE$ antigen 3 (PCA3) as both a one-time and longitudinal measure in men on active surveillance (@DISEASE$).	false
+452a6a668c5820e6b781c48fe0793bca29ea66df	Long-term (LT) androgen suppression (@DISEASE$) with radiation therapy (RT) is a standard treatment of high-risk, localized @PHENOTYPICFEATURE$ (PCa).	false
+307634425cbaa6df3870e765919b8cafcaf77ad4	Active surveillance (AS) is a treatment option for men with very low-risk @PHENOTYPICFEATURE$ (PCa); however, favorable outcomes achieved for men in @DISEASE$ are based on cohorts that under-represent African American (AA) men.	false
+f7fbcb4f39111baa128f8023b0a80b8a49ba2096	Active surveillance (@DISEASE$) is a treatment option for men with very low-risk @PHENOTYPICFEATURE$ (PCa); however, favorable outcomes achieved for men in AS are based on cohorts that under-represent African American (AA) men.	false
+1134b7c36f3e470071feeb26bc3a81d7325c86d6	Active surveillance (@DISEASE$) is a management strategy for addressing the widely acknowledged problem of over diagnosis and over treatment of clinically indolent @PHENOTYPICFEATURE$.	false
+2a3f20d8158f9d4b95fe9bfad91990672dcc3977	The Johns Hopkins @DISEASE$ program monitors men with favorable-risk @PHENOTYPICFEATURE$ with serial PSA, digital rectal examination (DRE), prostate magnetic resonance imaging and prostate biopsy.	false
+01e0325bf97c4ded805ecce1ea12fa3c53de8994	We aimed to validate Decipher to predict adverse pathology (AP) at radical prostatectomy (RP) in men with National Comprehensive Cancer Network (NCCN) favorable-intermediate risk (F-IR) @PHENOTYPICFEATURE$ (PCa), and to better select F-IR candidates for active surveillance (@DISEASE$).	false
+0e36eec51eff62d99d6b3cf273994eb421719c5f	Active surveillance (@DISEASE$) has become the recommended management strategy for men with low-risk @PHENOTYPICFEATURE$.	false
+c807e5957551d74416355ebe41ce0fa5d4cefc96	This report describes two cases of @DISEASE$ with perifocal @PHENOTYPICFEATURE$.	false
+59cac557186eb4ce7d7b87c5e78c8a76bfdfc440	He had been suffering chronic heart failure and @PHENOTYPICFEATURE$ due to mitral valve insufficiency, and panhypopituitarism after the first craniotomy for @DISEASE$.	false
+d53bb243a41abc0f2a551b2c8dfb1111df2ef846	Two patients with @DISEASE$ presenting with the "optic tract @PHENOTYPICFEATURE$ sign" are described.	false
+3accdd6234acd3ae0f3316c4f3f2870a33eb08d1	Vibrotactile perception threshold measurement has been widely used to diagnose the severity of @PHENOTYPICFEATURE$ associated with hand-@DISEASE$ vibration syndrome and sensory losses in stroke and diabetic patients.	false
+1e02117aaddbc71632a3af4ad53f60dae33e6545	Stereo macular photographs were graded for AMD (neovascular maculopathy and geographic atrophy) and early @DISEASE$ lesions (soft drusen, reticular drusen, hyperpigmentation, and @PHENOTYPICFEATURE$).	false
+ed70ead6a0805ec7c32a2b8a970850bdf21daee0	This is a case in which a patient presented with left-@DISEASE$ @PHENOTYPICFEATURE$, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Hennekam syndrome.	false
+01540bccc9da2d3d71c411efb2f372ac6c7106bd	Cerebral metastases of @DISEASE$ in an infant with multiple @PHENOTYPICFEATURE$.	false
+727a6a4669783e926ce6eee38a5b837a4bf22805	To compare patterns of sleep and the presence of @PHENOTYPICFEATURE$ in individuals in at-risk mental states (@DISEASE$) for psychosis and bipolar disorder (BD) with a healthy control (HC) group.	false
+198df78e7f2166023970f833cbe6f913491e1da3	@PHENOTYPICFEATURE$ is one of the principal clinical disorders in workers with hand-@DISEASE$ vibration syndrome.	false
+866290a74dc9132aaaf4b9178bb3fd22782185e0	A dog was presented with @DISEASE$ erythema, scaling, crusting, severe @PHENOTYPICFEATURE$ and digit loss.	false
+b7a517c1d534d9ee562595a34e36a427d6f0b5c2	Retreatment was allowed if evidence of clinical deterioration was noted or spectral domain optical coherence tomography at the 1-month follow-up showed intraretinal @PHENOTYPICFEATURE$, subretinal fluid, or recurrent @DISEASE$.	false
+32ec5e0b0dfe05ec3ef10264b3c2ac3dcec1e949	Their eyes were treated with a single intravitreal injection of 1.25 mg bevacizumab followed by as-needed dosing indicated by the presence and recurrence of intraretinal @PHENOTYPICFEATURE$, subretinal fluid (SRF), or pigment epithelial detachment (@DISEASE$), based on optical coherence tomography (OCT) performed monthly.	false
+22814e2df33e5760af658b647afc47c5f0132734	All lesions were in the cicatricial stage of CNV at 12 months of follow-up, with no leakage of fluorescein in the late phase of fluorescein angiography and no intraretinal @PHENOTYPICFEATURE$, SRF, and/or @DISEASE$ detected by OCT.	false
+e834f35d7c221a978e73d0edc3d61e9972e3b5ab	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (@DISEASE$) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+426aff7b61ebcb238becd4af2de72ca1d0244030	A starting dose of a monthly ranibizumab injection in the first 3 months is followed by retreatment in case of intraretinal @PHENOTYPICFEATURE$, subretinal fluid, or pigment epithelium detachment (@DISEASE$) in OCT, increased leakage in FA, or a hot spot in ICG.	false
+62f43166e5520684e461501d9820b7a6c757d650	Nine of 21 eyes were associated with serous neurosensory retina detachment, 6 eyes with hemorrhagic pigment epithelium detachment (@DISEASE$) and 14 eyes with @PHENOTYPICFEATURE$ and thickening of sensory retina.	false
+13f7c76d1d4d30070fad5a2a3727425d84238e4a	Primary electrical disease (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, which can lead to sudden cardiac death in the absence of detectable structural heart disease.	false
+ebc518a02df421fe222abee1652ca5daa29fe0d1	Before treatment, metamorphopsia was noted in 51% of the cases, intraretinal @PHENOTYPICFEATURE$ (IRE) was present on OCT scans in 71%, serous retinal detachment (SRD) in 85%, and pigment epithelial detachment (@DISEASE$) in 10%.	false
+ca65a328e46fbcae1ae2546ded4c78074d906eab	Cross-sectional study of patients utilizing the ODYSA instrument, evaluating the probability of 12 functional/autonomic diagnoses, CVS, migraine, orthostatic intolerance (OI), reflex syncope, interstitial cystitis, @DISEASE$, complex regional pain syndrome (CRPS), irritable bowel syndrome, functional dyspepsia, functional @PHENOTYPICFEATURE$, fibromyalgia, and chronic fatigue syndrome.	false
+46add750cf62c35dc043216be5e0faeea8129662	@PHENOTYPICFEATURE$, oral telangiectasia, and @DISEASE$.	false
+d446a80bc391d406e20d4ed1bdfbc37a4f5261ef	@DISEASE$ are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from mental retardation to @PHENOTYPICFEATURE$ and epilepsy.	false
+3f4559cdb2a65081759dac2bd0d2349a49bf7f0a	Malformations of cortical development (@DISEASE$) are frequently associated with neurological conditions including mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+046ae9b00e9eac7824a63ea8987f1ef850e9bdd4	Malformations of cortical development (@DISEASE$) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, @PHENOTYPICFEATURE$ and motor dysfunction.	false
+d3b9e56a073cebbc33fefc4f5353c405991d7abe	Malformations of cortical development (@DISEASE$) are one of the most common causes of neurological disabilities including @PHENOTYPICFEATURE$ and epilepsy.	false
+41b502297eb88ef67859eb0207183f1d91b5de4f	The renal tissue from patients with MGN, @DISEASE$, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, @PHENOTYPICFEATURE$ nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.	false
+513e0b5bb2adfc1014a3ea5873fbb106c32eb1cb	encephalopathy is also frequently associated with @PHENOTYPICFEATURE$, cortical visual impairment and @DISEASE$ revealing novel phenotypic consequences of channelopathies.	false
+3c4a865aaaa6678872289f2e75ebcc7bb755f2e8	Cardiac @PHENOTYPICFEATURE$ and its consequent metabolically induced coronary vasodilation (@DISEASE$) were studied in isolated, perfused, electrically paced rat hearts.	false
+cac5ddedd5b8fea72e1d55e2fc7c1a4a41d7fd48	Inherited mutations in voltage-gated sodium channels (VGSCs; or Nav) cause many disorders of excitability, including epilepsy, chronic @DISEASE$, and @PHENOTYPICFEATURE$.	false
+e4faca6c8868b41188de317481528f5a58b114b2	@DISEASE$-like @PHENOTYPICFEATURE$ of the mesovarium.	false
+2655dcaa621691ab34e5cd145e82847b383fca53	@DISEASE$ of cauda equina is the most common @PHENOTYPICFEATURE$.	false
+57ac7f4ef394d42fd63fc5db65e3afb79d3cad48	@DISEASE$ is the most frequently encountered intramedullary @PHENOTYPICFEATURE$.	false
+a1656e6bdc27eed31f4b9a459389f22bb388ed92	The @PHENOTYPICFEATURE$ was sufficiently mature for classification as @DISEASE$.	false
+7097e4490112396c107542bf272ad6afc17f26bb	@DISEASE$ is the most common @PHENOTYPICFEATURE$.	false
+156c32fc5995bfa8a8661f2cec12a41eb6389742	@DISEASE$: Unusual differential for a totally extramedullary intraspinal @PHENOTYPICFEATURE$.	false
+9f7e2068914d03ab54b0b999b8a0867250eb5912	Pure ovarian @DISEASE$ is an extremely rare @PHENOTYPICFEATURE$.	false
+e4a2a2af454ab8a1aef69b0ff5981e6a55adbe4a	@DISEASE$ is a rare @PHENOTYPICFEATURE$ entity.	false
+abd33941c4c44c10f4c21785d00ecc6c11672417	This @PHENOTYPICFEATURE$ was removed and diagnosed histologically as @DISEASE$.	false
+6b4b4c2f9cf01145a0dab897ba6b3950aaf609d4	@DISEASE$ in adults: Local experience with an uncommon @PHENOTYPICFEATURE$.	false
+48774c359fdda6ab3b56b161ebcf942d0aa7fcd4	The differential diagnoses of the following dermatoses with an erythematous and a hyperkeratotic component are discussed: erythrokeratodermia variabilis (Mendes da Costa), progressive symmetric erythrokeratoderma (Gottron), loricrin keratoderma, erythrokeratoderma en cocardes (Degos), Netherton syndrome, keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, erythrokeratolysis hiemalis (@DISEASE$), and nonbullous congenital ichthyosiform erythroderma.	false
+d86721c72d223a90e7b0da199d5fd278a5358fbc	Fractal geometry could be useful in the diagnosis of @DISEASE$ peripheral @PHENOTYPICFEATURE$.	false
+5ffa43dc1ecc16125b8bf0aaee407f94dd15bac4	Multivariate analysis was also used to evaluate variables for predicting @DISEASE$-volume @PHENOTYPICFEATURE$.	false
+5b951b8d428f2ff54ebd553fab3100abbab88ea6	[The usefulness of fractal geometry for the diagnosis of @DISEASE$ peripheral @PHENOTYPICFEATURE$].	false
+615ead6d80af035580881d56b80c7855b7af55ce	[@DISEASE$-cell @PHENOTYPICFEATURE$: is a more accurate staging possible and useful?].	false
+71c46abf78e80bab58e08a7438dd951be7639630	Particle therapy for non-@DISEASE$ cell @PHENOTYPICFEATURE$: where do we stand?	false
+84bb72f91d43088c13620ef29e20e16376a8e25e	Molecular characterization of @DISEASE$ peripheral @PHENOTYPICFEATURE$ based on the analysis of fine needle aspirates.	false
+3d36bd21400519671b04a307dd9108e57ba33231	and @DISEASE$ @PHENOTYPICFEATURE$ (16.09 mm vs 27.38 mm; P = .001).	false
+10a73ea152dbf458247474bff400a49d32c693c7	which suggests better results with a @DISEASE$ peripheral @PHENOTYPICFEATURE$.	false
+ab9372cf8d263c30e17a4828753c114fc4bbd5b3	colon and non-@DISEASE$ cell @PHENOTYPICFEATURE$).	false
+43ab13cf17191146592655d98430d4b583e11e64	We investigated the presence of cerebral @DISEASE$ vessel disease (SVD) in patients with @PHENOTYPICFEATURE$ (NAION) compared to control subjects without NAION to identify the association between NAION and cerebral SVD.	false
+41e0def7895232654566d6e0fa63641252d12cab	@PHENOTYPICFEATURE$ associated with @DISEASE$: a case report and review of the literature.	false
+b552780bf65eb1fd4eed4720c170c6013a601582	A fetal echocardiogram at 27-weeks gestation showed severe aortic stenosis with evolving @DISEASE$, significant endocardial fibroelastosis, a dysplastic tricuspid valve with moderate regurgitation, right atrial and @PHENOTYPICFEATURE$, and signs of fetal congestive heart failure.	false
+008d9427724da6f2dc474223edc50b67379110c0	A severely restrictive atrial septal defect (ASD) in neonates with @DISEASE$ (HLHS) results in pulmonary venous hypertension, @PHENOTYPICFEATURE$, and intractable hypoxia.	false
+8c5bba9ef8761970869916c55e13660e46d52028	A severely restrictive atrial septal defect (ASD) in neonates with hypoplastic left heart syndrome (@DISEASE$) results in pulmonary venous hypertension, @PHENOTYPICFEATURE$, and intractable hypoxia.	false
+b7c03df04f44cd58c2930a04669b880ff73c501d	@DISEASE$: progression of left @PHENOTYPICFEATURE$ and dysfunction to left ventricular hypoplasia in utero.	false
+b49eb9057ab5d5526d740e05603ee125335f54d3	This case demonstrates the possibility that a @PHENOTYPICFEATURE$, such as a rhabdomyoma, occasionally can mimic the @DISEASE$.	false
+1c164f032ef564c71501f81fa0e06231aa768d85	The authors describe an infant with both @PHENOTYPICFEATURE$ and @DISEASE$ (HLHS) in the absence of a laterality defect or evidence of any other morphologic defect.	false
+895e0e2d115ffd27ae9f497ae70ec09de92b8272	Finally, as an example of a combination of diseases, the clinical course and intelligence sharing during treatment of a patient with @PHENOTYPICFEATURE$ requiring living-donor liver transplantation and @DISEASE$ is reported.	false
+a9209ec43ec88d1cc034eec6aef52120435630a9	Infants with @DISEASE$ (HLHS) and restrictive or intact atrial septum (rAS) present with cyanosis, @PHENOTYPICFEATURE$, and are critically ill.	false
+bba963409b4abc74c4f53134a47b8040d6f3f18f	Infants with hypoplastic left heart syndrome (@DISEASE$) and restrictive or intact atrial septum (rAS) present with cyanosis, @PHENOTYPICFEATURE$, and are critically ill.	false
+74f9f7b91ee2e8f8697d2a5525f28efd966cb87f	From January 2006 to October 2011, 17 high-risk patients with @DISEASE$ (defined as having ?4 of the following PCMs: prolonged mechanical ventilation; older age; sepsis; necrotizing enterocolitis; hepatic, renal, or heart failure; coagulopathy; @PHENOTYPICFEATURE$; high inotropic requirements; anasarca; weight?<2.5 kg; and cardiac arrest) were identified.	false
+45fe62788b0c1d409f3bcd44a116d2d0902d8958	@DISEASE$, interrupted inferior vena cava, @PHENOTYPICFEATURE$.	false
+04da733b993cab9ba6bb4fe94f8b89daa186587c	Affected @DISEASE$ patients show a disorganized appearance of the phalanges with some degree of @PHENOTYPICFEATURE$/oligodactyly, in addition to metacarpal and carpal fusions.	false
+0e4749909059c53dcf97778e08fad36e6c22e5ac	Each brother presented with @PHENOTYPICFEATURE$ and clinical and radiographic features consistent with @DISEASE$.	false
+2372c5926b1e4986eab9da8e2dfc14944551f866	Coffin-Lowry syndrome (@DISEASE$) is an X-linked dominant condition characterized by moderate to @PHENOTYPICFEATURE$, characteristic facies, and hand and skeletal malformations.	false
+b1f5c9e4aff7b77424357cf30d2398a9934658d0	Cenani-Lenz syndrome (@DISEASE$; MIM 212780) is a rare autosomal recessive @PHENOTYPICFEATURE$/synostosis syndrome.	false
+8d3f5070d4b2c4ba5dc7dc825d897eda4ece3141	The patients in this family, a mother and her three children (a male and two females), all have @PHENOTYPICFEATURE$ with the typical @DISEASE$ phenotype.	false
+e404170eea9cce66367263d7a1f2bc424f40d63e	The large majority of patients with @DISEASE$ reported in the literature have splicing and missense mutations, which result in @PHENOTYPICFEATURE$, oligodactyly, and minor renal malformations.	false
+2881a676f201bcf3c2a82173feb3f4112db46f67	The moderate phenotypic expression of this mutation extends the @DISEASE$ phenotype to include less @PHENOTYPICFEATURE$ and minor, hitherto unreported signs.	false
+c05f0f044581170f33264c5f55ec868f5e6848ec	Coffin-Lowry syndrome (@DISEASE$) is a rare disorder characterized by moderate to @PHENOTYPICFEATURE$, facial dysmorphism, tapering digits, and skeletal deformity.	false
+1876c7e889be19ddc19dacdd4ba40831b2c6d5e9	This recessive mutation in LRP4 confirmed the diagnosis of @DISEASE$ syndrome in two patients present with isolated hand @PHENOTYPICFEATURE$.	false
+c377c58b992185d6ba657b3d914542004c4b1b2c	Our findings suggest that a defect in AMPA neurotransmission and plasticity contribute to @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+657a39819ab8d389b0a700f5cf3655bbac6a2ad3	@DISEASE$, as with other @PHENOTYPICFEATURE$/short-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified.	false
+5ab59ca44fe5760a6e8012f2949fd3ebeaa3ee1c	While immune deficiency occurs in other @PHENOTYPICFEATURE$/short-limb skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with @DISEASE$.	false
+d6876cdf6b408069334d11808dba70b9d79d989c	@DISEASE$ (A-T) is a recessively inherited neurodegenerative disorder with prominent progressive ataxia and cerebellar degeneration, as well as manifest abnormalities of tone, posture, and movement suggesting @PHENOTYPICFEATURE$.	false
+14dc9e8bd42a57de0b4ff390d5f8bbc5fb41d69a	@DISEASE$ (A-T) is an autosomal recessive disease characterized mainly by @PHENOTYPICFEATURE$, oculocutaneous telangiectasia, and immunodeficiency.	false
+887b14788f3b69873880cfb58089ad0f76ea1e49	@DISEASE$ scroti: A rare @PHENOTYPICFEATURE$.	false
+67cc325715d263fbb85c67748abf32fcfd75b86b	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ in childhood.	false
+de64d6e81d8252bb7ee154cf05d88db484f80df6	Metastatic intracardiac @PHENOTYPICFEATURE$ from @DISEASE$.	false
+25ea0c68d09c19998b26f67bb58910615baf0fec	Orbital @DISEASE$ is an extremely rare @PHENOTYPICFEATURE$.	false
+667e804ed518d5d8537da0d6f807fbc744024ad7	Retropharyngeal @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+263c1c677482064a6a922a22266f61b430d8cc7a	Giant retroperitoneal @DISEASE$: The silent @PHENOTYPICFEATURE$.	false
+fe2b65382995e44f35772d1e6bb0c6c9d1615d88	@DISEASE$ resulted the most frequent @PHENOTYPICFEATURE$.	false
+fc63768b15ea820e6a7f9b9fc9e693341f112385	@PHENOTYPICFEATURE$ from patient diagnosed with @DISEASE$.	false
+90b509e4e8e8e416b77e7ba9e672a8357ccdbd83	The @DISEASE$ (18qDS) is frequently associated with @PHENOTYPICFEATURE$.	false
+abf1e31426dac15da348454f0aefab5a1fb559a7	The @DISEASE$ is associated with @PHENOTYPICFEATURE$ in 50-80 per cent of cases.	false
+f88a1335401f2896564d2b79772ea583fb61bb04	The patient is a 42-year-old woman with metastatic @DISEASE$ and known brain metastases, who subsequently developed cauda equina syndrome after presenting with @PHENOTYPICFEATURE$, lower extremity weakness, and bowel and bladder incontinence secondary to leptomeningeal metastasis after treatment with neoadjuvant chemotherapy, surgical debulking, and adjuvant chemotherapy.	false
+7b35f4691580c86e0926fe994846531b003917ad	Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; @DISEASE$, characterized by papulonodular skin lesions, gingival hypertrophy, @PHENOTYPICFEATURE$, osteolytic bone lesions and stunted growth.	false
+1563c3c905aacf444f18a5a538f1f453311f666d	@DISEASE$ is a rare autosomal recessive disease characterized by the presence of @PHENOTYPICFEATURE$ and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy.	false
+5c4959db67954a0eead537b0d34a6c0c26ae0bb6	We report the case of an eight-year-old Moroccan male patient with typical features of @DISEASE$: multiple recurring subcutaneous @PHENOTYPICFEATURE$, gingival hypertrophy, joint contractures and other anomalies carrying a homozygous mutation in the CMG2 gene.	false
+9aeb2e7f86a9d933b0737b44449959fe150d07ef	We report the case of an eight-year-old Moroccan male patient with typical features of @DISEASE$: multiple recurring subcutaneous tumors, gingival hypertrophy, @PHENOTYPICFEATURE$ and other anomalies carrying a homozygous mutation in the CMG2 gene.	false
+df23414c5420f4192f1239a047bf36851a08c513	Some unsolved problems--late onset of anemia and @PHENOTYPICFEATURE$ (at age 7 years), healthy siblings showing very low transferrin (TF) level, and unexplained mode of inheritance--were found in family members of a @DISEASE$ already reported in 1972.	false
+e8640c15c650cb188d89688b57bcd6258ad7f9ad	As in human @DISEASE$, the MBD5 (+/GT) mouse model exhibited abnormal social behavior, @PHENOTYPICFEATURE$, and motor and craniofacial abnormalities, supporting a causal role for MBD5 in 2q23.1 microdeletion syndrome.	false
+0d7dc944b089e2e46128b0671d1e5e82c9b7e1c9	As in human 2q23.1 microdeletion syndrome, the MBD5 (+/GT) mouse model exhibited abnormal social behavior, @PHENOTYPICFEATURE$, and motor and craniofacial abnormalities, supporting a causal role for MBD5 in @DISEASE$.	false
+9e09c5b07b162a65eef8708e550c4eafe1fd2170	Infants or children with torticollis, dystonic posturing or atypical @PHENOTYPICFEATURE$ should be evaluated for @DISEASE$, Exhaustive and expensive neurologic examinations may be unnecessary.	false
+9da0cc10deb649a79dc83911dee600008758f706	The disorder is also frequently mistaken for @PHENOTYPICFEATURE$ (@DISEASE$).	false
+bc7279fc64f1fba96e7052743585c0c9650cb086	Children with torticollis, dystonic episodes or atypical @PHENOTYPICFEATURE$ should be evaluated for GERD and @DISEASE$.	false
+52d859408b1a0814aa4e637e05ab7d4dc1156cf0	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: @DISEASE$; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+6f0237a940e2032c544fcda81bfdebbe1a77d1de	@DISEASE$ severity was associated with male sex, Apgar score and the occurrence of neonatal @PHENOTYPICFEATURE$.	false
+01322d08d5d54cebf462577511bc7b4d66207b5f	Among children without radiographic evidence of @DISEASE$, family history of asthma was associated with childhood @PHENOTYPICFEATURE$ and bronchodilator use.	false
+399402efeb6cceb0f43500152a497a961c0ca0e7	Specific comparisons of @PHENOTYPICFEATURE$ and ventricular size between patients with schizophrenia and BPD have not been definitive, making it difficult to draw conclusions about structural brain abnormalities that might be specific to @DISEASE$.	false
+df73ec59982e9917e560d49eee90262c79afa0b5	Specific comparisons of @PHENOTYPICFEATURE$ and ventricular size between patients with schizophrenia and @DISEASE$ have not been definitive, making it difficult to draw conclusions about structural brain abnormalities that might be specific to BPD.	false
+6ef763487eba7fb0ba6b23e2d2c2478898f684d6	The etiology of neonatal @PHENOTYPICFEATURE$, complicated by @DISEASE$.	false
+0334fd4d20adb3fb91a8fe031ecff32ed710d67b	The incidence of respiratory distress syndrome (RDS), @DISEASE$, meconium aspiration syndrome, and neonatal @PHENOTYPICFEATURE$ was compared with anticipated rates for gestational age and birth weight.	false
+39a83e014f62447fa58c3c293ad04b2b5b7d4ac0	Five infants were studied: two had @DISEASE$ (BPD), 2 had associated congenital anomalies, and one had tracheomalacia and @PHENOTYPICFEATURE$; none had a tracheoesophageal fistula.	false
+324f66312c0704abe43d047bc54e30062f77b12a	Five infants were studied: two had bronchopulmonary dysplasia (@DISEASE$), 2 had associated congenital anomalies, and one had tracheomalacia and @PHENOTYPICFEATURE$; none had a tracheoesophageal fistula.	false
+163aa2f9c21261fb58817f64f334c7a6a71ad831	Severity of @DISEASE$ was associated with gestational age, 1 min Apgar score, very low birth weight and the presence of neonatal @PHENOTYPICFEATURE$/sepsis.	false
+2e0f5961b30f33b45ef986bf21fa7f42eb51212b	ADHD and @DISEASE$ share some symptoms of behavioural dysregulation without common @PHENOTYPICFEATURE$, at least in the attentional realm.	false
+8d9205840d127b2f939ed89151b7361be76dc323	@PHENOTYPICFEATURE$ was associated with absent fidgety movements; the motor optimality score was lower in infants with pneumonia and/or @DISEASE$.	false
+d7d0cb97bed6da70464d2b16784d3e5b3a5006fd	The neonatal morbidity included respiratory distress syndrome, intraventricular hemorrhage (grade III-IV), necrotizing enterocolitis, periventricular leukomalacia, @DISEASE$, neonatal @PHENOTYPICFEATURE$ and sepsis.	false
+cc3916228c141a9a1b06f09a334b898e6662d4f5	Almost all cases reported have the cardinal features of @PHENOTYPICFEATURE$, cataract, cardiomyopathy, @DISEASE$ and hypopigmentation.	false
+37c7b57d71c845f42ecab912d76ee3bf6a30719a	She had @DISEASE$, and @PHENOTYPICFEATURE$, but had no oculocutaneous telangiectasia.	false
+26b107ee9f63d57acf90312ae61a9361afa6793f	Here we report on a 5-year-old girl who presented with global developmental delay, @PHENOTYPICFEATURE$, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and @DISEASE$ with a low CD4 count and recurrent infections.	false
+d3b1c5ba89661affc5a3c008e1d55803a3a48b4e	Here we report on a 5-year-old girl who presented with global developmental delay, seizures, @PHENOTYPICFEATURE$, cataracts, sensorineural hearing loss, hypopigmentation, and @DISEASE$ with a low CD4 count and recurrent infections.	false
+aaa0d7261034b57319c850c5099136984e01fef6	The most important clinical symptoms include severe growth and @PHENOTYPICFEATURE$ and severe @DISEASE$.	false
+e494a91d61d275a1447bcedcdefc2951415c0935	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, @PHENOTYPICFEATURE$, seizures, behavioural abnormalities, @DISEASE$, and hypoglycaemia.	false
+02dfdacda91980c9e7fdb19348c488f10607e5b3	Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, @PHENOTYPICFEATURE$, behavioural abnormalities, @DISEASE$, and hypoglycaemia.	false
+9571a71b9259724d7e1c2f55959252c2d9e070cd	Intermittent @PHENOTYPICFEATURE$ and @DISEASE$ with multiple carboxylase deficiencies: a biotin-responsive disorder.	false
+3cfed17f51803c4eac030b96165921a09e45bad2	Inactivating mutations in TRNT1 have been previously shown to cause a severe congenital syndrome of sideroblastic anemia, B-cell @DISEASE$, recurrent fevers and @PHENOTYPICFEATURE$ (SIFD).	false
+ac288974eee7bfc0d1efa980ba2863552367974b	Dysequilibrium/@PHENOTYPICFEATURE$ diplegia with @DISEASE$.	false
+c767899e51b821332be538f7e9db91116472aaa2	Primary @DISEASE$ with early @PHENOTYPICFEATURE$ in two siblings.	false
+fc6c9d46bee2c03c3fd708b6f1660fd0c59d8a70	Features like atrophic rhinitis, nasal and aural myiasis, @PHENOTYPICFEATURE$, cleft lip and/or palate, mental retardation and @DISEASE$ are uncommonly seen in this syndrome.	false
+5f4b9c03d0e1aee60c8a455c8214fdb849ece5f8	Features like atrophic rhinitis, nasal and aural myiasis, syndactyly, cleft lip and/or palate, @PHENOTYPICFEATURE$ and @DISEASE$ are uncommonly seen in this syndrome.	false
+024f3e2945b320dbaa7a4af9e1af06cbfdd35250	Three compound 7d (NSC code 761448/1), 7e1 (NSC code 767161/1), and 7e3 (NSC code 767160/1) were found to exhibit higher anticancer activity than 5-fluorouracil against @PHENOTYPICFEATURE$, Melanoma, @DISEASE$, and Breast cancer subpanels.	false
+95fe5e7af9cb6159ab92a6d18eddb5280eae52f9	Nonsense and frameshift mutations that are putative breast/@DISEASE$ @PHENOTYPICFEATURE$, were detected in 7 of the 25 Norwegian and 9 of the 20 Swedish patients.	false
+13c81594e33b1c023930db71966d33b95d76f316	Introduction of a dominant negative @PHENOTYPICFEATURE$, IkB?M, which resulted in decrease of NF-kB function in @DISEASE$ cell lines.	false
+032407c5dc0d583cd5f6f1f228480c271f6accbe	@PHENOTYPICFEATURE$ heterogeneity in non-serous @DISEASE$.	false
+0af438f15c661369eb7d0b6e03e1bf74808271cb	In adjusted models, osteoporosis, heart disease, hypertension, @PHENOTYPICFEATURE$, diabetes, @DISEASE$, and thromboembolic disease were positively associated and dementia and breast cancer were negatively associated with ERT use.	false
+9aa32bd6bd419859d64c26b7aa12dacf4b7703a3	Growth of @DISEASE$ xenografts causes loss of muscle and bone mass: a new model for the study of cancer @PHENOTYPICFEATURE$.	false
+6caf98c9d0dbd0a5dfb0dd26251cd0bca86e5eb9	per week in advanced breast or platinum-resistant @DISEASE$ patients with a BRCA1/2 germline @PHENOTYPICFEATURE$, who had progressed after??1 previous line of chemotherapy.	false
+8ffbe349528e23a4e7109d2a2cc6dcbc4682f898	Population pharmacokinetics of cisplatin in patients with advanced @DISEASE$ during intraperitoneal @PHENOTYPICFEATURE$ chemotherapy.	false
+e3b2e349637af483675cf25fda4e331f9f8d7a55	A woman with stage IV metastatic papillary serous @DISEASE$ presented with @PHENOTYPICFEATURE$, altered mental status, difficulty with vision and right knee pain.	false
+951573a267cf2fa6d0a2a4cfe9ad406262aedf13	An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/@DISEASE$ @PHENOTYPICFEATURE$.	false
+3b72cb2edee38f24a6c3a8e48358e700e8f77d5c	hearing loss/damage, @PHENOTYPICFEATURE$ (OR, 16.3); hyperlipidemia, hypertension, diabetes (OR, 9.8); @DISEASE$, Raynaud phenomenon (OR, 5.5); cardiovascular and related conditions (OR, 5.0); thyroid disease, erectile dysfunction (OR, 4.2); and depression/anxiety, hypogonadism (OR, 2.8).	false
+b6786f35307ede7dce45b9cf45eda294580d5440	ATX is a multifunctional ectoenzyme and is involved in many patho-physiological conditions such as cancer, @DISEASE$, lymphocyte tracking in lymph nodes, @PHENOTYPICFEATURE$, diabetes and embryonic blood vessel formation.	false
+b563f8c365430d159032651effa75dc7feab9c29	Mutations in DAX1 cause @DISEASE$, and mutations in SHP lead to mild @PHENOTYPICFEATURE$ and insulin resistance, but the mechanisms are unclear.	false
+0bee77361bcbf92c5226a83b5684e9c12c0080e6	HH occurs in DAX1 mutations when associated with adrenal insufficiency (@DISEASE$), and is also linked with @PHENOTYPICFEATURE$ in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1. Rarely, HH has resulted from kisspeptin receptor (GPR54) mutations, a gene implicated in the regulation of pubertal onset.	false
+eaac7f4d6dad0b283ceccb2142dc69b32496f200	IMAGe is a newly reported syndrome characterized by the association of intra-uterine @PHENOTYPICFEATURE$, metaphyseal dysplasia, @DISEASE$ and genital anomalies.	false
+9dd6b10f1bb9e10b74cd7ba561acd0204c7fbf21	Important life threatening causes in infancy include congenital intestinal obstruction, atresia, malrotation with volvulus, necrotizing enterocolitis, pyloric stenosis, intussusception, shaken baby syndrome, @PHENOTYPICFEATURE$, inborn errors of metabolism, @DISEASE$, obstructive uropathy, sepsis, meningitis and encephalitis, and severe gastroenteritis, and in older children appendicitis, intracranial mass lesion, diabetic ketoacidosis, Reye's syndrome, toxic ingestions, uremia, and meningitis.	false
+302abc026081ade311864ee760b5e82998cb007c	overweight and @PHENOTYPICFEATURE$ are growing public health problems and around 13% of women assigned to antenatal health care (@DISEASE$) in Sweden have obesity (Body Mass Index, BMI ?30).	false
+4a4e88e9a403f72dbc233a227cc8345a6c3d6929	overweight and obesity are growing public health problems and around 13% of women assigned to antenatal health care (@DISEASE$) in Sweden have @PHENOTYPICFEATURE$ (Body Mass Index, BMI ?30).	false
+09c26fab4d4143218ade6df5cf729d569be13bd8	Recently, truncating mutations in the SRCAP gene have been shown to cause @DISEASE$ (FHS, OMIM#136140), a rare disorder characterized by peculiar facial features, short stature with delayed osseous maturation and @PHENOTYPICFEATURE$.	false
+f82b1a71d958130fd57b52a79a9f1fc5c26e59e7	@DISEASE$ (FHS) is a rare condition typified by short stature, @PHENOTYPICFEATURE$, delayed bone age, and characteristic facies.	false
+6843f78cfa51045b9ad1244f22721fcc42b5cdb3	@DISEASE$ is a rare condition marked by short stature and delayed bone age, characteristic facial features, and @PHENOTYPICFEATURE$.	false
+7849eb5d79b66ed85df2675887c62e576332688b	The @DISEASE$ is a rare genetic disease characterized by a triad of clinical signs: specific dysmorphic facial features, short stature with delayed bone age, and language and @PHENOTYPICFEATURE$.	false
+1178cc501e17d7455c7aab762a9bc4f55d0d00f4	A unique association of short stature, dysmorphic features, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f55e68efd96144d9cf5cac7914798d4678031ff5	We report on a 17-year-old young woman with a @PHENOTYPICFEATURE$, developmental delay, short stature, and facial anomalies consistent with the @DISEASE$ (FHS).	false
+a7c1b3c6b3a008e672b78b8a8e4677448de6b979	Untreated, @DISEASE$ leads to mental retardation, sometimes profound, as well as @PHENOTYPICFEATURE$.	false
+f8982e7802e9061f8061340f22ed9f6ed74ad62a	The ocular @PHENOTYPICFEATURE$ of patients with @DISEASE$ did not have the same results; all seeing patients were orthophoric.	false
+47e8d46e5cf288f9461c755d380918ab0757b3cc	Whereas with congenital disorders, such as @PHENOTYPICFEATURE$ and @DISEASE$, no causal therapy has been established up to now, several treatment options for acquired hypopigmentary disorders have been investigated.	false
+dd178a36aa52710b861703ce81e4f4829ff8c443	Although eye abnormalities are common in @DISEASE$ except for @PHENOTYPICFEATURE$, none can be considered a direct effect of the inborn error of metabolism.	false
+28fce3fa22edb4727e498985aa5e227185293278	Untreated @DISEASE$ causes severe mental retardation, musty odor, hyperactivity, seizures, eczema and @PHENOTYPICFEATURE$.	false
+5318ff1633390ad8ea2109c1783c8854d776003b	Patients with @DISEASE$ show increased L-phenylalanine in blood, which leads to mental retardation and @PHENOTYPICFEATURE$ of skin and hair.	false
+ef72f4b01ecae1887c4ef12f0a5124a332ca18fc	The hyperphenylalaninemic and @PHENOTYPICFEATURE$ phenotypes of female @DISEASE$ mice were completely corrected after 10 weekly administrations of mPAH cDNA.	false
+7929787f5f4b4b36d9b127d2ace6f22e931deed8	The current study is the first to demonstrate the reversal of @PHENOTYPICFEATURE$, one of the major clinical phenotypes of PKU in mice as well as in humans, by adenovirus-mediated gene transfer, suggesting the feasibility of gene therapy for @DISEASE$.	false
+3c304b77ca25524718df32c7ff7f10041564b0f3	The current study is the first to demonstrate the reversal of @PHENOTYPICFEATURE$, one of the major clinical phenotypes of @DISEASE$ in mice as well as in humans, by adenovirus-mediated gene transfer, suggesting the feasibility of gene therapy for PKU.	false
+2971e88d4e8f0435130ebad68b06049d31f7ea43	This paper discusses the relevance of the findings of @PHENOTYPICFEATURE$, neuropsychological problems and brain imaging in adults with @DISEASE$.	false
+f49de9c25cd0c782ad46926b3743bf29abba7f44	Reversal of @PHENOTYPICFEATURE$ in @DISEASE$ mice by adenovirus-mediated gene transfer.	false
+446c7e1816041bc04c14456d5ae80d66cc69cdfe	Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited @DISEASE$ presenting as isolated hypomegakaryocytic @PHENOTYPICFEATURE$ at birth without other characteristic physical anomalies.	false
+188f501697f999401a72523be038e039f66894e8	Diamond-Blackfan anemia (DBA) is a congenital @DISEASE$ characterized by hypoproliferative @PHENOTYPICFEATURE$, associated physical malformations and a predisposition to cancer.	false
+d42dbced959579184bf1d6e870f5bb687965d835	Congenital amegakaryocytic thrombocytopenia (CAMT) is a very rare @DISEASE$ presenting with isolated hypomegakaryocytic @PHENOTYPICFEATURE$ at birth developing into a pancytopenia during the first years of life.	false
+3d094b326270f3a1b8a95c918124a5edef9ebd14	CAMT is a @DISEASE$ that usually presents with isolated @PHENOTYPICFEATURE$ soon after birth.	false
+4a654734bf33cd25b66f37b5c901fab10b3cc576	Diamond Blackfan anemia (DBA) is a lineage-selective inherited @DISEASE$ characterized primarily by @PHENOTYPICFEATURE$ and physical malformations.	false
+b8daa3229829eee6147fce1b218eeb36f27044b4	This study evaluated the effects of nerve growth factor administration in protecting visual function in patients with @DISEASE$-related @PHENOTYPICFEATURE$.	false
+f49f9555ef93b72249fa297dd8bbdc19ff70450c	Mutations of the FGD1 gene are responsible for a significant proportion of patients with @DISEASE$ (AAS), an X-linked disorder characterized by short stature, brachydactyly, @PHENOTYPICFEATURE$, and a typical dysmorphic facial appearance.	false
+57b40811b6d656355024073dd6550e71bd962042	@DISEASE$ [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and @PHENOTYPICFEATURE$.	false
+7654bbcb92169f643f442e1c382401f32cd19a1b	Faciogenital dysplasia, also known as @DISEASE$ (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and @PHENOTYPICFEATURE$, ocular manifestations, congenital heart defects, low IQ and behavioral problems.	false
+923dab0bb6b313cc7f8aca777072d94381bab764	@DISEASE$, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and @PHENOTYPICFEATURE$, ocular manifestations, congenital heart defects, low IQ and behavioral problems.	false
+4dd1ea9db9fa7c4715189d4235911f67fa0a8686	Disabling mutations in the FGD1 gene cause @DISEASE$ (also known as Aarskog-Scott syndrome), a human X-linked developmental disorder that results in disproportionately short stature, facial, skeletal and @PHENOTYPICFEATURE$, and in a number of cases, mild mental retardation.	false
+fa6cb5ce6f75ede0788fd9c8031a99ada8c54d0c	Disabling mutations in the FGD1 gene cause faciogenital dysplasia (also known as @DISEASE$), a human X-linked developmental disorder that results in disproportionately short stature, facial, skeletal and @PHENOTYPICFEATURE$, and in a number of cases, mild mental retardation.	false
+eb327469a5e76fa495a7e364cf40339eda3bd9c8	The patient had cerebral infarction, cardiac hypertrophy, old myocardial infarction and @PHENOTYPICFEATURE$ without diabetes mellitus, hyperlipidemia and @DISEASE$.	false
+b264b6a7360d0b8ba39270f984dbd5746af3163d	[On the essential nature of @DISEASE$ and @PHENOTYPICFEATURE$].	false
+77fda1b9fe1cd18bb2c38cc14309eeca5d48f21d	Their underlying diseases were heterogeneous, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cd5c17526ed9281e8bb58eec3362b0f71bfbcfd6	It usually occurs due to respiratory infections, @PHENOTYPICFEATURE$ or @DISEASE$, traumas, immunosuppression.	false
+00efa66590857e15fd10b2dd3cd5c2e3c9b33d63	We looked for spinal @PHENOTYPICFEATURE$, myelitis, @DISEASE$, vitamin deficiency and malignancy but could not find out any disorder.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+87c4eb7eac2c552a0c90d5ff7c04bc279bf7aabf	In this paper, we reviewed this subject focusing on a series of our genetic studies of murine models of @DISEASE$, MRL strains of mice with a deficit in Fas-mediated apoptosis, which spontaneously develop glomerulonephritis, systemic @PHENOTYPICFEATURE$, polyarthritis and sialoadenitis.	false
+b339951f7714487fd01cf1f64bff7053e38bad4f	In the differential diagnosis septicaemia was considered, including tuberculous septicaemia, @DISEASE$, @PHENOTYPICFEATURE$ and lymphoproliferative diseases.	false
+fa6ddde85b014ad20ced1ddef5e8cd0d7cd5389f	The exclusion criteria were predominant voiding and storage symptoms suggestive of detrusor overactivity, the presence of grade >1 urogenital prolapse, previous pelvic radiotherapy or other clinical contraindications for surgical procedures, @PHENOTYPICFEATURE$ dysfunction, and @DISEASE$.	false
+ab5b0701ddc8982f12b3a9bc4c15cfe0990f0651	Detailed blood examination and other radiographical imaging studies denied the presence of @PHENOTYPICFEATURE$, @DISEASE$, encephalitis and other entities.	false
+9e0210b152519467fee47dfbc1e5ade6d1d8959e	Syndrome characterized by lingual malformation, @PHENOTYPICFEATURE$, tachypnea, and psychomotor retardation (@DISEASE$).	false
+bd4f70cb806cbc2a609cf6fe7a60563cc85516a4	Syndrome of @PHENOTYPICFEATURE$, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the @DISEASE$ or a new syndrome?	false
+1e946ceed6b2bf7783e7c2af24caeb13ba0f20b5	We report on a patient with manifestations typical of @DISEASE$ and of the short rib (@PHENOTYPICFEATURE$) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune.	false
+edb330cdf89c0c036743eb9f806da7cefa49ea7e	@DISEASE$ is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and @PHENOTYPICFEATURE$ of hands and feet.	false
+cd5ee202db7994930ab5fb934859092a1b060e3f	Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-@PHENOTYPICFEATURE$ skeletal dysplasia with orofacial findings almost identical to those of the @DISEASE$.	false
+ae58f23a198e879ca2b51a2ceee7cb64edea8381	@PHENOTYPICFEATURE$, the most commonly studied aspect of @DISEASE$, is common and increases with age and with certain comorbid conditions.	false
+8aa9b85744f13af7230d4e6320555d451d0701c4	Different degrees of limitations among patients of @DISEASE$ in carrying out specific activities were: Dressing 9.5%, washing hair 11.6%, rising from bed 50%, feeding themselves 6%, walking 39%, taking bath 10%, toilet 37%, rising from chair 47%, rising from floor 55%, boarding bus 30%, and @PHENOTYPICFEATURE$ 47%.	false
+dd9068d8b0edbd486ed76332158cef020d49c931	Using validated         questionnaires, we assessed pain intensity and interference with work and sleep, region-specific disability due to @DISEASE$,         self-rated general health, health-related quality of life (measured via EuroQol), productivity loss, depression, and         @PHENOTYPICFEATURE$ at baseline, 1, 3, 8, 12, and 52 weeks.	false
+26dacaf35f549a4cdf6600daccece48999726888	We studied QOL ascertained by limitations of activities of daily living, impact on family and social relationships, and @PHENOTYPICFEATURE$ among patients with @DISEASE$.	false
+60070689d1fb49aedc60781502feb808585670ec	We report on a boy who had @DISEASE$, an autosomal dominant disorder characterized by progressive symphalangism, multiple joint fusions, conductive deafness, and mild @PHENOTYPICFEATURE$.	false
+defa5bdcbe2b0959fd68d9cb617a398ff2fd150b	The different diseases of the transplants were: @PHENOTYPICFEATURE$ (9), Alagille syndrome (4), deficit alpha 1-antitrypsin (3), autoimmune hepatitis (2), neonatal hepatitis (1), Byler disease (1), @DISEASE$ (1).	false
+651700a5f45acbb3123267c1addc1d9b6122c43b	In the absence of macular or @PHENOTYPICFEATURE$, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient beta-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of GM1 gangliosidosis type 2. This is a rare, late infantile onset, progressive gray-matter disease in which @DISEASE$ is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts.	false
+bf60a2bc56c3f014e375c45e3e0e6c85ccf76003	WTX is an X-linked @PHENOTYPICFEATURE$ suppressor targeted by somatic mutations in Wilms tumor, a pediatric kidney cancer, and by germline inactivation in @DISEASE$, a bone overgrowth syndrome.	false
+5307e7eb8d084de80c8e16c6395839a75be17dcf	@DISEASE$ (OS-CS) is a rare @PHENOTYPICFEATURE$ characterized by linear striations of the long bones, osteosclerosis of the cranium, and extraskeletal anomalies.	false
+357f290783752e9b94d833544f0bf8f4bce09f43	@DISEASE$ (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, @PHENOTYPICFEATURE$, hearing deficits, and mental retardation.	false
+06d2b09fb6554748ebd2445830649fd717ff2a66	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, @PHENOTYPICFEATURE$, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation.	false
+e71ebd89d3eaf288fc32c488b46ee6bc907467a5	@DISEASE$ (OSCS) is a rare X-linked @PHENOTYPICFEATURE$ characterized by linear striations of the long bones, osteosclerosis of the cranium, and extraskeletal anomalies.	false
+98b4fe3f22a68c5bc129cfa4de80f7a31beb64a1	@DISEASE$ (OS-CS) is a rare @PHENOTYPICFEATURE$ characterized by linear striations of the long bones, osteosclerosis of the cranium, and extra-skeletal anomalies.	false
+7b0afc0a8b29142fa50ae763e7c7a8ff1686beaa	A case of @DISEASE$ with typical periodic @PHENOTYPICFEATURE$ and bulimia was diagnosed.	false
+6563e913b657322b0a57dea97d338988576ecf28	@DISEASE$ (KLS) is a rare sleep disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$.	false
+73afc2927e09ae06f041bdab1710af1db54f2ec8	[Periodic @PHENOTYPICFEATURE$ with megaphagia in adolescent males: @DISEASE$.	false
+4ae0f67df77159bfcb48c1a99b642cae13d67d76	@DISEASE$ (KLS) is a disorder characterized by a triad of periodic @PHENOTYPICFEATURE$, hyperphagia, and hypersexuality.	false
+610983a70cef361d0f80c78b6cd19029134a588a	Psychopathological investigation of a case of periodic @PHENOTYPICFEATURE$ and Bulimia (@DISEASE$).	false
+5ea5c34d3ca6c0f3391dfea9c6b61191840e031b	@DISEASE$ (KLS) is a rare periodic @PHENOTYPICFEATURE$ with associated behavioural abnormalities but with often favourable prognosis.	false
+68154769144418e25d81563ef60ae57335e9e1aa	@DISEASE$ is characterized by periodic @PHENOTYPICFEATURE$, hyperphagia, sexual disinhibitions and behavioral disturbances.	false
+67e9f23f7da10127080a186692ff7c7713543006	@DISEASE$ (KLS) is condition characterised by @PHENOTYPICFEATURE$, hyperphagia and hypersexuality.	false
+ba80bcad16a0b08bbfd24070d56bafebf11eb41d	[Report on a case of periodic @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+b6dd4c67ccbe88a1e14d1b4a7d480c9a8b5c90dd	Multiple sleep latency test and polysomnography in diagnosing @DISEASE$ and periodic @PHENOTYPICFEATURE$.	false
+03fb7511d8596845b65987c3940e03acc84d4b1e	Sixty-five had clinical evidence of spinal cord involvement resembling that in males with @DISEASE$ (AMN), two had clinical evidence of cerebral involvement, and nine showed no @PHENOTYPICFEATURE$.	false
+bdebd93ffdf7d85d7d3b031af032ef713bbfa687	We concluded that auditory brain-stem response testing provides a simple, valid, reliable method for demonstrating @PHENOTYPICFEATURE$ in @DISEASE$ even prior to evidence of clinical signs.	false
+d0ddc0870a2054593e3ae7bb628d7e81ef6b01e6	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, @DISEASE$, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+273f94b9b2f7bd6ed854996dd28c3fbecbab8260	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, @DISEASE$, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+c9639d056fefc2a998cbbaa9302172667bac3ea9	Specific final diagnoses included thanatophoric dysplasia (8), osteogenesis imperfecta (6), Roberts syndrome (2), achondroplasia (3), @DISEASE$ (1), @PHENOTYPICFEATURE$ (1), spondyloepiphyseal dysplasia (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1).	false
+c7d2f411020ab51a1c5be53d8d2bc3028489829c	The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, Shwachman-Diamond syndrome and @DISEASE$), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (@PHENOTYPICFEATURE$, hypercholesterolemia, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis.	false
+9023894de10c86b5416fa69e04fc07010649b973	On the basis of clinical and postmortem findings, @DISEASE$ should be considered as a differential diagnosis in aged harbor seals exhibiting clinical signs of regurgitation, decreased appetite or anorexia, @PHENOTYPICFEATURE$, and/or abnormal posturing.	false
+05e879531d0ef5ff3bd6bf8921e7e14439ead3bb	22q11.2 deletion in patients with @PHENOTYPICFEATURE$ and @DISEASE$22q syndrome phenotype.	false
+d83189091442263a558144e4cd83df851600be28	They include multiple hyperpigmented and @PHENOTYPICFEATURE$ areas, brain malformations, pilomatricomas, a second childhood malignancy, a @DISEASE$ (LS)-associated tumour in a relative and parental consanguinity.	false
+9da1a3451d12eab8a42d14c41d6f864f5038d909	The experts discuss several factors potentially predictive for poor disease outcome (such as severe perianal fistulizing disease, severe stricturing/penetrating disease, severe @PHENOTYPICFEATURE$, @DISEASE$, persistent severe disease despite adequate induction therapy), which may incite to an anti-TNF-based top down approach.	false
+105dbc6301bc74957989ee1579d610a6ebb57871	"Any" maternal alcohol diagnosis demonstrated a higher attributable fraction for @DISEASE$ (1.53%), with the highest attributable fractions for microcephaly (7.31%), ptosis (3.75%), atrial septal defect (2.86%), and @PHENOTYPICFEATURE$ (2.01%).	false
+3180d2f404c1df2fbd12314968f8800fa1b61301	Ethanol inhibition of insulin signaling pathways may contribute to impaired central nervous system (CNS) development in the @DISEASE$ and @PHENOTYPICFEATURE$ associated with alcoholic neurodegeneration.	false
+44db459ee566a8f5a68a42698ba22c84d0a02480	The present study sought to (a) evaluate possible central hearing loss; (b) verify and extend previous observations on sensorineural and @PHENOTYPICFEATURE$; (c) evaluate possible vestibular disorders; (d) examine the relationships between hearing, speech, language, vestibular, and dentofacial disorders in @DISEASE$ patients; and (e) evaluate the influence of patient age, race, and gender on the expression of these morbidities.	false
+42c907d803df6cdb223219ff89ec8cfc69e0ed6d	@PHENOTYPICFEATURE$ and ocular abnormalities in children with @DISEASE$.	false
+5e58dc7996e67109af8b4a93ee7edf2494cbe24d	In addition to alcohol-induced ocular anomalies among children with @DISEASE$, epidemiologic studies in the past two decades have demonstrated that chronic alcoholism is associated with a significantly increased risk of @PHENOTYPICFEATURE$, keratitis, color vision deficiencies and corneal arcus.	false
+65b1f22690e2e0fc3ae8aa66bfa000d5379cd745	Two other children had @DISEASE$ and unrecognized multiple congenital abnormality including @PHENOTYPICFEATURE$, deformation type, and four minor anomalies.	false
+0658adb93c7c809b8220b4362fd76044b76509e3	Of the 22 @DISEASE$ patients, 17 (77%) had intermittent conductive hearing loss due to recurrent serous otitis media that persisted from early childhood into adulthood, whereas 6 (27%) had sensorineural hearing loss in addition to the @PHENOTYPICFEATURE$.	false
+2916be5ed6896e59690b1a61f60afeacc361116a	Of the 22 @DISEASE$ patients, 17 (77%) had intermittent @PHENOTYPICFEATURE$ due to recurrent serous otitis media that persisted from early childhood into adulthood, whereas 6 (27%) had sensorineural hearing loss in addition to the conductive hearing loss.	false
+033b70f3bd41e8ea18afd15b6c1f38d5908fd252	Of the 22 @DISEASE$ patients, 17 (77%) had intermittent conductive hearing loss due to recurrent serous otitis media that persisted from early childhood into adulthood, whereas 6 (27%) had @PHENOTYPICFEATURE$ in addition to the conductive hearing loss.	false
+7f3a426c0d3caa108223caa25f050081ca4e285d	Following diagnosis of @DISEASE$, serial fetal echocardiography was employed to follow the normal twin for signs of @PHENOTYPICFEATURE$, including right atrial dilation, tricuspid regurgitation and pericardial effusion.	false
+81dc06eacc90b477a6cab6d1e79e1eeea56f8b5c	Abdominal pain, nausea, @PHENOTYPICFEATURE$, and ascites in a 14-year-old girl with @DISEASE$: Answers.	false
+41c48949b642fc1e90a40a43cd986cc2487de5ad	@PHENOTYPICFEATURE$, nausea, vomiting, and ascites in a 14-year-old girl with @DISEASE$: Answers.	false
+2b0afb5e9c9872a46da1d219ffb5c4808a401e6a	Anorexia, nausea, @PHENOTYPICFEATURE$, abdominal pain, malabsorption may affect patients suffering by rheumatoid arthritis, @DISEASE$ and other collagenophaties.	false
+4b40ae9a46d2b8a148a35cda1c921bfa7251097d	Anorexia, nausea, vomiting, @PHENOTYPICFEATURE$, malabsorption may affect patients suffering by rheumatoid arthritis, @DISEASE$ and other collagenophaties.	false
+596ab5df393cf7a1bb96ede053dd0cdb88b768df	Abdominal pain, nausea, @PHENOTYPICFEATURE$, and ascites in a 14-year-old girl with @DISEASE$: Questions.	false
+b26824eb23eadfc1aac7b8d170cd0cdf3ad003a4	@PHENOTYPICFEATURE$, nausea, vomiting, and ascites in a 14-year-old girl with @DISEASE$: Questions.	false
+6d4cd16e318f0eae002ef877c3aac0223cf5dd53	@PHENOTYPICFEATURE$ in @DISEASE$: steroid- or disease-induced phenomenon?	false
+bd18fd34cc63068277ddc8531b8fdbaf12442de7	BMSCs from @DISEASE$ patients are @PHENOTYPICFEATURE$.	false
+946beecd1986747d9be72dbaeb77e3a4bf5982f9	A 52-year-old woman with a 6-year history of @DISEASE$ (SLE) developed acute @PHENOTYPICFEATURE$, nausea, vomiting, and diarrhea accompanied by hypocomplementemia.	false
+2de1da0a317d38615b404002306c709e95e42604	A 52-year-old woman with a 6-year history of @DISEASE$ (SLE) developed acute abdominal pain, nausea, @PHENOTYPICFEATURE$, and diarrhea accompanied by hypocomplementemia.	false
+f6753d99978a1f417ec3ab5fb2d1e77bf3f0e601	Rapid development of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0d1514415e90393d92e4832f71208135dca65d38	Rapid progressive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+a625b07df907049d0f769fea1e4b40c640b36f71	@DISEASE$ (SLE) is a complex systemic autoimmune disease associated with multiple @PHENOTYPICFEATURE$.	false
+d38b9af3ae56839b37bb0fc2024a552c8f451506	In another patient presenting with @DISEASE$ and proximal ureteric stenosis combined with mental retardation, macrocephaly and @PHENOTYPICFEATURE$, a duplication of 2.73?Mb was detected in 1q21.1.	false
+eef3d698ba01d3df134e9e9c0f02785324957e8e	Scalp defect, absence of nipples, @PHENOTYPICFEATURE$, @DISEASE$: another case of Finlay-Marks syndrome.	false
+98f7bd00bba00d0a0e755dcc7bc236db6626ae97	Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of @DISEASE$/dysplasia and @PHENOTYPICFEATURE$.	false
+97427d7eae40a65626f9f1838cf7cbab0ad1aac4	However, there was one child with severe malformations including @PHENOTYPICFEATURE$, cleft lip and palate, @DISEASE$, low-set ears, hearing deficit, bilateral cryptorchidism, and micropenis.	false
+25b9a5321fab95b8fb3653381afca86226382501	Internal hydrocephaly, @PHENOTYPICFEATURE$, enlarged renal pelvis and @DISEASE$ were the main internal soft tissue anomalies.	false
+2f190445c09dc9c0ef2753d720aecc8adefc0121	These include: (i) consanguineous siblings with a combination of bilateral @PHENOTYPICFEATURE$, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and @DISEASE$; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning.	false
+237a412638ac0b7be9b5e7f88b31f8a3d394b9ca	These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral @PHENOTYPICFEATURE$, pulmonary agenesis, cardiac malformation, and @DISEASE$; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning.	false
+81dd38b48471c843faae29a573c0d4a549c546cd	These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and @DISEASE$; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral @PHENOTYPICFEATURE$, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning.	false
+cecc75f4135fd7b74fe62edd8408e460411c882e	Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), @PHENOTYPICFEATURE$, choroid coloboma, microcephaly, @DISEASE$, and spastic paraplegia.	false
+35b6b1d1473399c65e68588cc9d1aaf7c3b02821	The most common malformations were hydrocephaly, exencephaly, anophthalmia, @PHENOTYPICFEATURE$, hydronephrosis and @DISEASE$.	false
+7bf1ea0db0c8766fd6062e2a49c41db3d9ec3688	Autopsy findings revealed a patent foramen ovale with persistent left superior vena cava, left @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bf75b026a532a0237c43fee4e99d4ffb35d70de5	We report a 7-year-old boy who complained of severe headaches and @PHENOTYPICFEATURE$ 2 years after hemodialysis for @DISEASE$.	false
+a3b77ab4936ad63cea74ae10c2efbe29d8b6894d	[@DISEASE$ plus @PHENOTYPICFEATURE$].	false
+784db2cf8bd49f6b88ec2333190f51341f21f6c6	In contrast to most children with CMTC, patients with M-@DISEASE$ syndrome have a high risk of @PHENOTYPICFEATURE$, such as hydrocephalus, megalencephaly, developmental delay and mental retardation.	false
+3aa5da24827c2720a2bbc08d582c5842b06b90d1	There are only a few reported cases of @DISEASE$ presenting in combination with @PHENOTYPICFEATURE$.	false
+0ff7de943f92924b24b14d42ea45b18361082b14	@DISEASE$ associated with @PHENOTYPICFEATURE$: a report of two cases.	false
+fdeb8cb08454feca513d8bf8578dbce168384912	Case of @DISEASE$ with @PHENOTYPICFEATURE$ successfully treated with low-dose warfarin.	false
+81212760a54d78d23d5d5438441ac56965cfde5f	These include livedo reticularis, necrotizing vasculitis, @DISEASE$, thrombophlebitis, cutaneous ulceration and necrosis, erythematous macules, purpura, ecchymoses, painful @PHENOTYPICFEATURE$, and subungual splinter hemorrhages.	false
+2694017d041127fb040070a3461001e8b73c1974	Cartilage-hair hypoplasia is an @DISEASE$ with short-limbed @PHENOTYPICFEATURE$, hypoplastic hair, and defective immunity and erythrogenesis.	false
+7fb3f41d5e17c571ddf3f86c613e4a7f71c4e86d	@DISEASE$ is an autosomal recessive metaphyseal chondrodysplasia with short-limbed @PHENOTYPICFEATURE$, hypoplastic hair, and defective immunity and erythrogenesis.	false
+c9b56eef6b8dc42b53bec2ec09105053e2908f69	@DISEASE$ (CHH) is a metaphyseal chondrodysplasia with short-limbed @PHENOTYPICFEATURE$.	false
+06032df62efc4a5b618e41e80797be6dad7d957f	@DISEASE$ is a metaphyseal chondrodysplasia with short-limbed @PHENOTYPICFEATURE$.	false
+4a3d942d991e9fbeb066d61883e2dbc02e79c545	@DISEASE$ (CHH), is a rare cause of metaphyseal chondrodysplasia and @PHENOTYPICFEATURE$.	false
+cd3933197daa2272335b3029c74002bfc1650751	@DISEASE$ (CHH) is an autosomal recessive disorder resulting in @PHENOTYPICFEATURE$ and hypoplasia of hair.	false
+987e917841b798385f05f0d5d574f745576251be	Cartilage-hair hypoplasia (CHH) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$ and hypoplasia of the hair.	false
+73c603ca9d4209d142f2fd98e7f66923694d92c6	@DISEASE$ (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by @PHENOTYPICFEATURE$ and hypoplasia of the hair.	false
+2c596995fcce6300b361cbb2fce63bc8306fcf8a	@DISEASE$ (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by severe short-limb @PHENOTYPICFEATURE$ and hypoplastic hair.	false
+8d8772a227e03f5cb956694d3a4c9a8c9fb5c618	Cartilage-hair hypoplasia (CHH) is an @DISEASE$ characterized by severe short-limb @PHENOTYPICFEATURE$ and hypoplastic hair.	false
+4c334ef7ccf284dd056c877ad875ce4126b279fa	@DISEASE$ is an osteochondrodysplasia with short-limbed @PHENOTYPICFEATURE$.	false
+d8390e571400b732d39dbd618598e751511ddbbf	The work up of malabsorption and @PHENOTYPICFEATURE$ led to the diagnosis of celiac disease in three previous cases of @DISEASE$.	false
+4b9fba2db4971cd4036749d052f2abd4e39f750c	@PHENOTYPICFEATURE$ and metaphyeal dysplasia due to @DISEASE$.	false
+067d537cde957b37633a70399ac2accd4c8294b5	An adult female with congenital @DISEASE$ (RTS) and @PHENOTYPICFEATURE$ is described, who presented with symptoms of severe over-activity, short attention span, mood lability, and aggressive outbursts in a cyclical pattern, suggestive of recurrent manic-like episodes.	false
+c2eaf71cc9f4f008642fad914dc52f22eb33aec6	@DISEASE$ (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to @PHENOTYPICFEATURE$ (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990).	false
+f1720bd3f8ae88123ecc2d1a856da7e1d912c0aa	In addition to these drug combination approaches, HDACIs alone have demonstrated effectiveness in the treatment of Parkinson's disease, Alzheimer's disease, @DISEASE$, Rett syndrome, Friedreich's @PHENOTYPICFEATURE$, Huntington's disease, multiple sclerosis, anxiety, and schizophrenia.	false
+9605015d7e9a487fffd1bc7a66dc2718973c1c0f	A patient with @DISEASE$ is presented with the characteristic clinical features including small and short stature, @PHENOTYPICFEATURE$, and small maxilla with a dental malocclusion.	false
+6df44df584eeb0fac9e0a4e50504934ba23ef6b9	But the patient did not have @PHENOTYPICFEATURE$ as in @DISEASE$ and had no microdeletions on chromosome 16 by FISH-based assay.	false
+b450803c77314bd6d12bc4c199394a306c16fe10	Here we report on a 39-year-old woman with @PHENOTYPICFEATURE$, short stature, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the @DISEASE$.	false
+d5eceabb319b5439d6832c6710b63bb1cc6949ad	Here, we summarize the current state of development of HDAC therapeutics and their application for the treatment of human brain disorders such as @DISEASE$, Rett syndrome, Friedreich's @PHENOTYPICFEATURE$, Huntington's disease and multiple sclerosis.	false
+9108564e679331d87b5bbc45acd7fb5569144fd3	Paraneoplastic encephalitis comprises several diseases such as paraneoplastic cerebellar degeneration (@DISEASE$), limbic encephalitis (LE), paraneoplastic encephalomyelitis (PEM), brainstem @PHENOTYPICFEATURE$, opsomyoclonus syndrome, in addition to other even less frequently occurring entities.	false
+7f1afe41f96d2230b068b9c1d081709d6d036655	@PHENOTYPICFEATURE$ should be considered as a potential cause of otorrhea in @DISEASE$.	false
+bd533e81b227b5ba8bcee530c95035cf685b37b1	To evaluate whether impairment of middle ear mucociliary migration would influence @PHENOTYPICFEATURE$ formation, a retrospective chart review evaluating cholesteatoma occurrence in a sizable population of patients with either primary ciliary dyskinesia (@DISEASE$) or cystic fibrosis (CF) was performed.	false
+e542254e805b003e4da72b95adb2cb5c18fd2383	To evaluate whether impairment of middle ear mucociliary migration would influence cholesteatoma formation, a retrospective chart review evaluating @PHENOTYPICFEATURE$ occurrence in a sizable population of patients with either primary ciliary dyskinesia (@DISEASE$) or cystic fibrosis (CF) was performed.	false
+0a0e904f91a62e529e467b24b99c1a62a776199c	This cohort was used to investigate whether children with @DISEASE$ and OME not treated with VT were predisposed to @PHENOTYPICFEATURE$ formation in the setting of a paediatric quaternary referral centre.	false
+963136fd9378d5435e7d051ccf43cd10e190b479	By examining the fate of nuclei in various anther cell layers, we demonstrated that the kinetics of @DISEASE$ in anthers differed between the barley cultivars Igri and Cork that show a low and a high rate of @PHENOTYPICFEATURE$, respectively.	false
+bdb21a386711905233577f7e6b7d8b4f0cfddc2f	However, no direct correlation between @DISEASE$ in the anther cell layers and the rate of @PHENOTYPICFEATURE$ was observed and copper had no influence on the PCD kinetic in these cultivars.	false
+0ca0d998ab3e4c2481598101609736820b2e5a4b	However, no direct correlation between PCD in the anther cell layers and the rate of @PHENOTYPICFEATURE$ was observed and copper had no influence on the @DISEASE$ kinetic in these cultivars.	false
+0da4f3af9ca864260e7966bf2965057d1fb01a84	We examined programmed cell death (@DISEASE$) during microspore development to determine whether PCD may interfere with the induction of ME and/or the occurrence of @PHENOTYPICFEATURE$.	false
+4b05ae9e60264cf7e0aeed57d08c3855f8eed9b9	We examined programmed cell death (PCD) during microspore development to determine whether @DISEASE$ may interfere with the induction of ME and/or the occurrence of @PHENOTYPICFEATURE$.	false
+cdc464e087a9c3c0b83c5806118ac5b425204aa7	No cases of @PHENOTYPICFEATURE$ were found in this cohort of @DISEASE$ children with OME managed without VTs.	false
+1e422f9b7f44824db2a6e9187ff59f6d5697a3cb	Recently, it has been suggested that misprojections of the temporal retina to the contralateral hemisphere might not be specific for patients with @PHENOTYPICFEATURE$ and might also be associated with the Kartagener syndrome (i.e., with situs inversus totalis in the presence of primary ciliary dyskinesia [@DISEASE$]).	false
+abd0577f6d38678bbac2e9ca858a204e782a5284	No child with OME and @DISEASE$ was diagnosed with a @PHENOTYPICFEATURE$ during the follow up period.	false
+3f723d9007324995a60d527ef88a401127f3d12b	The eye disease may be congenital amaurosis of Leber type, pigmentary @PHENOTYPICFEATURE$ or @DISEASE$ and the electroretinogram (ERG) is of value in the diagnosis of these varieties of hereditary tapeto-retinal degeneration.	false
+0d4499be7a9d642e76fadf2be0f5faca2d4d2ab7	To explore the correlation of various influencing factors with the extent of peritumoral @DISEASE$ @PHENOTYPICFEATURE$.	false
+17225f36b40626f6613bd38baa054fd17b00f5b9	3D multimodal MRI @DISEASE$ tumor and @PHENOTYPICFEATURE$ segmentation: a graph cut distribution matching approach.	false
+0fabd4ce78c119e8bf87db0cb9d00e1c7f5c077c	[Correlation of influencing factors with the extent of peritumoral @DISEASE$ @PHENOTYPICFEATURE$].	false
+f356f569aa2741f562db5ac4743ba5b9b9ff7666	[To the mechanism of @PHENOTYPICFEATURE$ around malignant @DISEASE$].	false
+f4095d3a69584a17ea9bfd8acd4fe91c73d94831	Based on the results of a comparative study (magnetic resonance imaging and/or computed tomography with a morphological study) in 11 patients with malignant @DISEASE$, the authors have ascertained that the extent of perifocal edema cannot fully reflect the degree of impairment of the blood-brain barrier (BBB) in the tumor vessels: the signs of BBB impairment were found in 47.1% of the tumor vessels in patients with insignificant edema and in only 15% of the vessels in those with significant @PHENOTYPICFEATURE$.	false
+4a10d47b03a8a4fd96458429177218b0381a3714	Based on the results of a comparative study (magnetic resonance imaging and/or computed tomography with a morphological study) in 11 patients with malignant @DISEASE$, the authors have ascertained that the extent of perifocal edema cannot fully reflect the degree of impairment of the blood-brain barrier (BBB) in the tumor vessels: the signs of BBB impairment were found in 47.1% of the tumor vessels in patients with insignificant @PHENOTYPICFEATURE$ and in only 15% of the vessels in those with significant edema.	false
+72c684b76e9f8b443edcf021b8f98400fc9b030a	This study investigates a fast distribution-matching, data-driven algorithm for 3D multimodal MRI @DISEASE$ tumor and @PHENOTYPICFEATURE$ segmentation in different modalities.	false
+46e9dbf0edd327929cc06595c1c6133b7b58d51d	Radiographic findings of chronic @DISEASE$ were seen in 9 patients (75%) and included consolidation, ground-glass opacities, pleural effusions, lymphadenopathy, @PHENOTYPICFEATURE$, and lung pseudotumor.	false
+423c52fd707d264e80014afc8c0afab46d4f5e36	Our results demonstrate that pulmonary manifestations are uncommon in Q fever but include cough and consolidation for acute Q fever and radiographic findings of @PHENOTYPICFEATURE$ with pleural effusions, consolidation, and pseudotumor in those with chronic @DISEASE$.	false
+5c239b484cd248289d6ffc500d589842c1c0b625	@PHENOTYPICFEATURE$, fever and prolonged length of hospital stay in seronegative PCR positive patients as compared to seropositive patients with early acute @DISEASE$ pneumonia.	false
+a385bd206a91ea62b3c12619660851fdc065c5c6	Four fetuses were diagnosed with male pseudohermaphroditism (1 with @DISEASE$, 1 with presumed @PHENOTYPICFEATURE$ dysplasia, and 2 undetermined).	false
+c70bdeea6d71c5abdd0eb7f1f798f976a1f2917f	Mutation analyses of the ASPM gene for autosomal recessive primary @PHENOTYPICFEATURE$ and STS gene of @DISEASE$ were conducted revealing a co-occurrence of a novel homozygous splice site mutation of ASPM gene (c.2936+1G>A) and a partial deletion of STS spanning from exon 7-10.	false
+32d3c12533c1c56e030bdc058aedfea8e59eb357	We generated induced pluripotent stem (iPS) cells from individuals with @DISEASE$ and @PHENOTYPICFEATURE$ and used them to produce functional neurons.	false
+75e00fa22d66bf3963a5a6b1d680e7a716593e8b	Although SHANK3 is considered to be the most likely candidate gene for the @PHENOTYPICFEATURE$ in @DISEASE$ patients, the cellular and molecular phenotypes associated with this syndrome in human neurons are unknown.	false
+322c1807fe7f6c6a42f2b048a1b1f8267b65ed58	Because MEN 2b frequently appears as a spontaneous @PHENOTYPICFEATURE$, and because the characteristic phenotypic features are absent in the early life of most affected patients, both MEN 2b and its @DISEASE$ may elude diagnosis for years.	false
+9c96a6b3cba76b1950b82c67d1aeb06ecaadc71c	The case of a twelve years old boy with unilateral @DISEASE$, whose main symptoms were cough, hemoptisis, @PHENOTYPICFEATURE$ and weight loss is reported.	false
+59272f26d80b7ae58bd0407016b6b1f6e59bf15a	The following diseases were associated: @DISEASE$ (TMC) in one case, diabetes mellitus (5), cholelithiasis (3), contralateral nonfunctioning adrenal adenoma (2), and @PHENOTYPICFEATURE$ (1).	false
+bbf90b96ff876987f8b9c198da4deecc0042c6ed	@DISEASE$ (IgAN) is a common cause of @PHENOTYPICFEATURE$ worldwide.	false
+6ad5dfa067b0ad25fc4d12665ef761d647e639a4	@DISEASE$ presenting with @PHENOTYPICFEATURE$ and pulmonary hemorrhage.	false
+1c160d23e53aed31879fff9d4686af69a1cb5357	Ocular findings in @DISEASE$ with @PHENOTYPICFEATURE$ and hypertension.	false
+fb1aa776210ba9ccb12e7fb5c10ff57954cf0b75	Recurrent resolving @PHENOTYPICFEATURE$ in @DISEASE$.	false
+736724b88b393ad5889400b75316e22568fe2faf	Histomorphometric correlates of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+01a37bdab510fcfe7b73ea5fdb54aa102ebe9355	Less frequently, an @DISEASE$ may occur and induce @PHENOTYPICFEATURE$.	false
+50ca6231fc42f29d0b0abc0d50636f7932a45286	Acute myoglobinuric @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+4a6b2a000d658ba9e3389dcb54f5161c09140a63	Renal function in @DISEASE$ with established @PHENOTYPICFEATURE$.	false
+9e935e37e970d0bdde171a3f1ff61370f330ec34	He had a history of @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+2d7be82f962d3f10538679a25f5a783d807b11b3	[Mesangial @DISEASE$: a frequent case of terminal @PHENOTYPICFEATURE$ (author's transl)].	false
+b1e201d56ec2183135d919e77fcd73fc7f6ab166	Up to 40% of macroprolactinemic patients may present with @PHENOTYPICFEATURE$ symptoms, infertility, and/or @DISEASE$.	false
+a4428d83a5594f746ae32721ac3459f1e78a3512	We describe the clinical features, radiologic characteristics, and pathologic findings of 45-year-old man who presented with @DISEASE$, @PHENOTYPICFEATURE$, and hyperprolactinemia who had a pituitary adenoma with extensive spherical amyloid deposits.	false
+672573d80275b1b566aed3776a599ceef707b599	Risperidone-induced polydipsia and polyphagia associated with @DISEASE$, @PHENOTYPICFEATURE$, and rapid weight gain in an adolescent Hispanic female.	false
+4590afd4a49ed28c93df922c45b1619c31654f8f	This report describes a 38-year-old woman who initially presented with a variety of symptoms including headaches, light sensitivity, @PHENOTYPICFEATURE$, acute visual changes, cold intolerance, amenorrhea, decreased libido, fatigue and @DISEASE$.	false
+4f0030381ca51574eecce842785f06c90a47a9dc	The hormonal consequence of hypeprolactinemia is @PHENOTYPICFEATURE$; in women, this is manifested as amenorrhea/oligomenorreha, anovulation and @DISEASE$, whereas in men the main complaints are a diminished libido and erectile dysfunction.	false
+ddce6d4233aaaf708556f68069e065548d53d932	Hyperprolactinemia causes @PHENOTYPICFEATURE$, infertility and @DISEASE$.	false
+367d2e497c7e89ce069b93302f8b95dcbbceaee7	She did not complain of recent headaches, @PHENOTYPICFEATURE$, visual difficulties, or @DISEASE$ and was clinically euthyroid.	false
+3b6c04731838f10a746822bed8905b9f6fcddfe9	@PHENOTYPICFEATURE$ caused by levofolinate treatment in patients with liver metastases from @DISEASE$.	false
+beecde332d915c8430ffb27af29ddef5f651bae4	p53 and beta- catenin play a role in the early stage of @PHENOTYPICFEATURE$- adenoma-carcinoma sequence but have a different mechanism in inducing @DISEASE$.	false
+cab75a281c1550243db3d3820afee6516e1d3870	A 69-year-old woman presented with arterial hypotension, @PHENOTYPICFEATURE$ and a severely depressed left ventricular ejection fraction (LVEF) of 25% only 3?days after having received her first treatment for @DISEASE$ with 5-fluorouracil (5-FU)-based therapy.	false
+1cbd9803753ce44cc92943d0a88bfe3ee3fc19aa	@PHENOTYPICFEATURE$ repair, abdominal compartment syndrome, pancreatic and @DISEASE$, as well as haemorrhoids, confirm this reality.	false
+6a2b8f8b853ed0c56fc724dd2e8c21643686dca9	Here we report the potential usefulness of new, easily applicable, non-invasive and relatively low-cost clinical biomarkers, based on @PHENOTYPICFEATURE$ spectral reflectance and fractal geometry of the vascular networks in several different tissues, for identification of hereditary non-polyposis @DISEASE$ carriers as well for detection of other tumors, even at an early stage.	false
+11266ca9bd35eecd691252ae124aec70726c9b84	We report the results of genetic analyses of a kindred inheriting a unique autosomal-recessive @PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+ee0a351538053fd13d8b15b751d1e28dacc176b7	We report on a 5-year-old boy with spondylocarpotarsal synostosis (@DISEASE$) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral @PHENOTYPICFEATURE$ and mild facial dysmorphisms.	false
+f4c119a5478d2636bee3ad5387b71a6e30e719f7	We report on a 5-year-old boy with @DISEASE$ (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral @PHENOTYPICFEATURE$ and mild facial dysmorphisms.	false
+521d76c2e0b7f72dd6875a97310cc4f125694a18	Each patient had osteopetrosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8a7c00fc04a7da242ebb42a17de343528f12067a	Urinary tract obstruction, @PHENOTYPICFEATURE$, voiding dysfunction, temporary or indwelling urinary catheters, @DISEASE$ and medullary sponge kidney are considered the main risk factors for developing infection stones.	false
+88f79402c6e69e9267e729ff956e844e3a70517d	Four children are described from three Saudi Arabian families suffering from osteopetrosis, @DISEASE$ and @PHENOTYPICFEATURE$ associated clinically with mental retardation, stunted growth, abnormal teeth and a similar facial appearance.	false
+d470edc31fd1f3cc6abc6b4d76bc0f785cdec067	Aminoglycoside (AMG)-induced renal toxicity is well-known and may manifest with non-oliguric @PHENOTYPICFEATURE$ or renal tubular dysfunction like Fanconi-like syndrome, Barter syndrome-like syndrome or @DISEASE$ (RTA).	false
+05e024ae5b2085240264e7524565728a789a750e	[@DISEASE$ or only @PHENOTYPICFEATURE$ and diuretics-induced hypokalemia?].	false
+358c8b724998ba010ff07f44d64d6ebf4ec149bc	These results demonstrate that the V-ATPase in renal cells is a putative target for the toxins in C. collinus and the inhibition of this important proton pump probably plays a role in the development of @DISEASE$ and subsequent @PHENOTYPICFEATURE$ seen in poisoned patients.	false
+d8c27755d27bc9ce57949a96dfdf5565bc0de573	Mutations occurring in the gene encoding this protein can give rise to @DISEASE$ (dRTA), a disease characterized by an impaired urine acidification, nephrocalcinosis, and @PHENOTYPICFEATURE$.	false
+75d850a9e578a43a78eb16e868a3a93dfe0be549	@DISEASE$ (CLL) is the most frequent lymphoproliferative disease and @PHENOTYPICFEATURE$ in western countries.	false
+4aeb9b1fe1a7f3793925aa43fe3501e71fe27c63	We report on two presentations on ?-thalassemia and myelodysplastic syndromes, three presentations on @DISEASE$, and others on perioperative oral anticoagulation, sickle-cell anemia, diffuse large B-cell lymphoma, and @PHENOTYPICFEATURE$.	false
+f35855ea330ba475ab135002074e75a84625eeac	We describe a 62-year-old patient with newly diagnosed @DISEASE$ of the B-cell-lineage who did not respond to several chemotherapy regimens including chlorambucil, fludarabine and cyclophosphamide, developing a marked neutropenia and @PHENOTYPICFEATURE$ with life-threatening infections.	false
+e0f4c55cde19e17daaa5358f42110d6e948f0f8a	We present a rare manifestation of @DISEASE$ with progressive bilateral @PHENOTYPICFEATURE$ and the typical fundoscopic picture of anterior ischemic optic nerve neuropathy (AION).	false
+64dc0036be178754f3a8dce9927b4d525939d480	@DISEASE$ (CLL) is a very common form of @PHENOTYPICFEATURE$ among middle-aged and elderly persons in Western countries.	false
+c533200a0a054cb0e2c3daa39295a2330a110b9a	A 65-year-old woman with a 7-year history of @DISEASE$ presented with acute @PHENOTYPICFEATURE$, pain, and redness in her right eye.	false
+eac63ff0c31cbb6b7a0522881acd7a341b2761b3	We describe a patient with early stage @DISEASE$ who developed @PHENOTYPICFEATURE$ and transient paresthesias.	false
+3bd25f9f90f0b5f00bc69cab6a7ef259696cffa0	A 70-year-old woman with a history of @DISEASE$ presented in 2005 with bilateral COM and @PHENOTYPICFEATURE$ meeting CI candidacy.	false
+523bc3121f7cafb04dc8461da8e2bb15be6c7394	Three cases demonstrated morphologic and clinical features consistent with @DISEASE$ (CLL), and one case presented as a lymphosarcoma cell @PHENOTYPICFEATURE$.	false
+4f47253777488a459444fc3450d993f9e77d6194	@PHENOTYPICFEATURE$ cell proliferation and death in @DISEASE$ patients on therapy with the BTK inhibitor ibrutinib.	false
+b60bc1806480f751a279a8fa8b512b5f09bc68bb	LAL-D should be suspected in patients with hepatomegaly, @PHENOTYPICFEATURE$ and /or elevated transaminases found during routine checks or testing for other conditions, and in patients with @DISEASE$.	false
+6aa6bffc9c74c5c848607a8713e6b5acd8c261bb	This article provides a brief discussion of the major 2016 updates to the WHO CNS classification scheme and reviews typical MR imaging findings of adult primary CNS neoplasms, including diffuse infiltrating gliomas, ependymal tumors, neuronal/@PHENOTYPICFEATURE$, pineal gland tumors, meningiomas, nerve sheath tumors, @DISEASE$, and lymphoma.	false
+1704b334431cbdb7dc902f859b1631d2f6d51a1a	We are reporting a giant pelvic neoplasm, a rare @DISEASE$ that presented with a large bowel obstruction and bilateral @PHENOTYPICFEATURE$ because of its size and location.	false
+de0ff3c644e636d074d091f41c0acc706cb19fb6	This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with @PHENOTYPICFEATURE$; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as @DISEASE$ (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions).	false
+cfcc36cf6915ea1b45a78155bb78913d09ce1beb	We report the first known case of malignant @DISEASE$ of the tongue in a 57-year-old female patient who experienced rapid growth of a longstanding right anterior tongue mass, with associated dysphagia and @PHENOTYPICFEATURE$.	false
+3de57fae1e1415362fad1cadd939e5d043615374	Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with @DISEASE$, a nephropathy associated with deafness and @PHENOTYPICFEATURE$, mutations in COL4A6 alone have not been related to any hereditary disease so far.	false
+78c8f0209107dc495abd33acd4c0571bd11c193d	Additional ocular features described in @DISEASE$ include other corneal dystrophies, microcornea, arcus, iris atrophy, @PHENOTYPICFEATURE$, spontaneous lens rupture, spherophakia, posterior lenticonus, a poor macular reflex, fluorescein angiogram hyperfluorescence, electrooculogram and electroretinogram abnormalities, and retinal pigmentation.	false
+b26fb6ceee1ffe6f8fe259c7d0ff47ce3eadba9d	@DISEASE$ (PS) is a rare autosomal recessive condition characterized by @PHENOTYPICFEATURE$ and gonadic dysgenesis.	false
+19847f86be53a17a72e543d41d0813fe117c07b6	@DISEASE$ is a rare genetically heterogeneous autosomal recessive group of disorders described in 1951 by Perrault as gonadal dysgenesis with @PHENOTYPICFEATURE$.	false
+db5577a5b7657cb70c53bfb66b42e1a04a7a7349	We conclude that this condition, which we propose to designate the @DISEASE$, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative @PHENOTYPICFEATURE$ in male and female homozygotes.	false
+885fd0a9894a9a1c221509f7015edbe8329ba87f	@DISEASE$ (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and @PHENOTYPICFEATURE$ in affected males.	false
+2fcab00aaafb3ae268724fc07793936e989ee36c	In 1951, Perrault reported the association of gonadal dysgenesis and @PHENOTYPICFEATURE$, now referred to as @DISEASE$.	false
+901541d01b5ceed224c7ef14471d4dcf83510667	@DISEASE$ is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only @PHENOTYPICFEATURE$.	false
+24bdeb4e2bb5f43168721025be94d612965ab899	The @DISEASE$ evaluated in two families in Montana and one in Sicily for familial @PHENOTYPICFEATURE$, primary amenorrhea and neurologic impairment (progressive in some), turned out to be heterogeneous.	false
+97d7815ea3b550dc876391fde003da764b92ed42	@DISEASE$ with amenorrhea, infertility, @PHENOTYPICFEATURE$, and degenerative disc.	false
+580fa5b5dc5609f45429700d77b221b63c5fd212	@DISEASE$ is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and @PHENOTYPICFEATURE$ alone in affected males.	false
+c6eaca6250f6281926cf9f9ff1401046a7a17573	Hearing loss and ovarian dysfunction are key features of @DISEASE$ (PRLTS) but the clinical and pathophysiological features of @PHENOTYPICFEATURE$ in PRLTS individuals have not been addressed.	false
+6d332a61776e4cce65a39d55245543e1525b0fe5	@PHENOTYPICFEATURE$ due to optic neuropathy in @DISEASE$: report of case and review of the literature.	false
+c235d3d285e4373cd02318ecd9579b39b7259f86	Macrocytosis, mild @PHENOTYPICFEATURE$, and delay in the diagnosis of @DISEASE$.	false
+e67e70ee0d0c401d28746dd9b06cb9b5976d74b8	A female patient with @DISEASE$ had clinical findings of @PHENOTYPICFEATURE$, diplopia, proximal leg weakness, areflexia and a positive edrophonium test as well as the classic patterns initially of MG and later of LEMS on successive repetitive nerve stimulation (RNS) tests.	false
+508ca7d78b6a068ac747ff39e37a338d773bdd7b	Macrocytosis, mild @PHENOTYPICFEATURE$ and delay in the diagnosis of @DISEASE$.	false
+74e181269c90a00790ebf85b9dbd006b69a7d1d4	The third patient presented with symptomatic @PHENOTYPICFEATURE$ and diagnosed with @DISEASE$ without other autoimmune disorders.	false
+492d677c908db4ea6e0844d8ab7c64b58d6b2b16	In addition to the previously reported features of @DISEASE$ this report also describes some additional findings including hyperextensibility at the distal interphalageal joints, bilateral thumb duplication, bifid toenails, symptoms of urinary retention, vesicoureteric reflux, prominent ears, @PHENOTYPICFEATURE$, and an overgrowth of a patch of hair in the midline of the neck.	false
+49ca88c375d31979384be35184910ccb3337c84e	@DISEASE$ is characterized by mental retardation, loose skin, coarse facies, @PHENOTYPICFEATURE$, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia.	false
+6c7f010e564112a4a8547cde7d708c787662472e	@DISEASE$ is a multiple congenital anomaly associated with growth and mental retardation, cardiac and @PHENOTYPICFEATURE$, and a predisposition to develop neoplasia.	false
+b930087a5d4392a5e9af548cd86d15be91e60c9b	@DISEASE$ (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, cognitive impairment, skin and musculo-@PHENOTYPICFEATURE$, and predisposition to certain cancers.	false
+8ac45b619950200e42275248f60c3a22d654930f	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and @PHENOTYPICFEATURE$ and a predisposition to develop neoplasia, both benign and malignant.	false
+02aa72c90ae8a433950586380c3b83742d451695	@DISEASE$ is a distinctive multiple congenital anomaly syndrome, characterized by loose soft skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features, @PHENOTYPICFEATURE$, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation.	false
+ceabad0e035e515d33c7283338d24b2f8dbd6a76	To determine whether these phenotypes are recapitulated in humans, we generated induced pluripotent stem (iPS) cell lines from patients with @DISEASE$ (CS), a developmental disorder caused by abnormal Ras signaling and characterized by @PHENOTYPICFEATURE$, such as cognitive impairment and autism.	false
+9d76af6aa01150e3011d05ab5c9f9b4e3f05022c	To determine whether these phenotypes are recapitulated in humans, we generated induced pluripotent stem (iPS) cell lines from patients with @DISEASE$ (CS), a developmental disorder caused by abnormal Ras signaling and characterized by neurodevelopmental abnormalities, such as cognitive impairment and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+de716e85416e782c8bf913b3f347473064367ef6	Heterozygous germline mutations in the proto-oncogene HRAS cause @DISEASE$ (CS), an intellectual disability condition with severe failure to thrive, cardiac abnormalities, predisposition to tumors, and @PHENOTYPICFEATURE$.	false
+df36faf1d6acb266a55d2b9b07588d477e847632	@DISEASE$ is a rare congenital disorder typically characterized by severe failure-to-thrive, cardiac abnormalities including tachyarrhythmia and hypertrophic cardiomyopathy, distinctive facial features, a predisposition to papillomata and malignant tumors, @PHENOTYPICFEATURE$, developmental delay, and mental retardation.	false
+c85589042dc5f307cbfc58ab3e6987f566ffe881	@DISEASE$ (CS) is a complex developmental disorder involving characteristic craniofacial features, failure to thrive, developmental delay, cardiac and @PHENOTYPICFEATURE$, and a predisposition to develop neoplasia.	false
+f3af512e0f673ca0318217f6a6b4d5d63ff78d27	@PHENOTYPICFEATURE$ and @DISEASE$ disease: an epidemiological investigation.	false
+970e9d0087da1ea74d366468681f7b25a1758b5f	Female gender, obesity, diet, hypertension, @PHENOTYPICFEATURE$, diabetes may be the risk factors of @DISEASE$ disease.	false
+f421f81916afd9b616fcc1a72deccba5990593a0	Genetic variations in the CYP7A1 gene have been associated with metabolic disorders of cholesterol and bile acids, including @PHENOTYPICFEATURE$, hypertriglyceridemia, arteriosclerosis, and @DISEASE$ disease.	false
+20f627977741ec526cc7ad0f17da67ef2e51d30d	For cholesterol @DISEASE$ disease, moreover, a strong link exists between this disease and highly prevalent metabolic disorders such as obesity, dyslipidemia, type 2 diabetes, @PHENOTYPICFEATURE$, hypertriglyceridemia and the metabolic syndrome.	false
+bd3b7c16f57bb70314b78cb3045ae1fa723a527c	Benzene is a widely distributed environmental contaminant known to cause leukemia, particularly @DISEASE$, and perhaps other @PHENOTYPICFEATURE$ and disorders.	false
+6d3f1d5baef136d4803dd30cf5dbfcfcf585bf85	Myelodysplastic syndromes (MDS) are a varied set of @PHENOTYPICFEATURE$ and a high risk of progression to @DISEASE$ (AML).	false
+3b353a394315f0c92acdc7700c50c4fba49f68e2	@PHENOTYPICFEATURE$, particularly @DISEASE$ (AML) and myelodysplastic syndromes (MDSs), have been commonly reported in association with SS.	false
+eb83b79aedb936388f57650084e788ac416a46bb	Mithramycin A is an antitumor compound used for treatment of several types of cancer including chronic and @DISEASE$, testicular carcinoma, @PHENOTYPICFEATURE$ and Paget's disease.	false
+4a95d57dc71f66fc71398d99b51c062b7bd14b9b	Bone marrow mastocytosis may be associated with many clonal non mast cell @PHENOTYPICFEATURE$ and its association with @DISEASE$ especially with t (8; 21) has been described.	false
+cadd00f8db574957a1ce38a4236b6cd840ecf15c	Various genome-wide associated studies have linked human Vwa8 to both neurological and oncological pathologies, which include @PHENOTYPICFEATURE$, bipolar disorder, comorbid migraine, and @DISEASE$, however, the function and role of the VWA8 protein remain poorly understood.	false
+29ddaf196a0bd0c8d605967db40e5e84b354592b	Fanconi anemia is a rare, autosomal recessive genomic instability disorder characterized by congenital @PHENOTYPICFEATURE$, panmyelopathy and a high risk of malignancy, principally @DISEASE$.	false
+a9c56e7ee488b8c033541765931d07a97981e9eb	@PHENOTYPICFEATURE$, particularly @DISEASE$ and myelodysplastic syndromes, are the most commonly associated malignant conditions.	false
+b8956fd62de17d7f2ed283cf7ae6aef54071f5c4	@DISEASE$ is a multisystem sporadic genetic diagnosis characterized by facial dysmorphia, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, seizures, diaphragmatic hernia, and other systemic abnormalities.	false
+8ed86761240a2791714087d93c3924fdf540aacf	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+4cd7b14dcd8f1bf634af7d12cbf1bb1079476545	@DISEASE$ (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe @PHENOTYPICFEATURE$, characteristic facial features, and variable structural anomalies.	false
+b5929e5ecd2e4dab21f95b4a63e8b1c4184c4912	The clinical manifestations of @DISEASE$ are variable with the most common findings including craniofacial dysmorphia, hypotonia, @PHENOTYPICFEATURE$, hearing loss, skin pigmentary differences and epilepsy.	false
+2089b1ce88e2981f2fe461fcd1027ce7d1a9b153	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and @PHENOTYPICFEATURE$, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+8f05600ac53398f564c1ac50a7176662a19ccec0	[Renal lesions in a case of @DISEASE$: association of angiomyolipoma, bilateral @PHENOTYPICFEATURE$ and renal clear-cell carcinoma].	false
+62fe1f283383737757c0296bc07d47dcae263c80	A 28-year-old female with @DISEASE$ presented to Hikone Municipal Hospital with subacute onset of somnolence, @PHENOTYPICFEATURE$ and frequent vomiting.	false
+82c7f05a010088f2c4d067055bc5cc4f1270a0da	[@DISEASE$ without @PHENOTYPICFEATURE$, diagnosed in adulthood].	false
+d276d226cce7f809bba4069bbaca15011ee2d159	This convergence was observed despite the high comorbidity between ASD and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cb188db34f9bb3a32ef116e6561b8350030e9b37	Thirty-six families with @DISEASE$ (TS) including 49 affected persons and 68 apparently unaffected first-degree relatives were examined for @PHENOTYPICFEATURE$.	false
+6f1ba19cc5675a280235138ad2a34e88ec49c841	A contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with @DISEASE$ and @PHENOTYPICFEATURE$ at birth.	false
+99b1a410a1dc2153033ec8403549893e4e153492	Hemimegalencephaly, an uncommon sporadic nonfamilial congenital dysplastic @PHENOTYPICFEATURE$, constitutes a pathological spectrum of neuronal migration disorders, but consistently includes abnormal large neurons similar to those in the cortical tubers of @DISEASE$.	false
+33756f103c543340c5bee647fa28a8aee3f9befe	In infants with @PHENOTYPICFEATURE$ without VACTERL, the incidence of @DISEASE$ is much lower than in those with VACTERL.	false
+2fc742bf12675398b95303f2ab3b29ae2c3d9423	We report a case of successful renal transplantation in a patient of @DISEASE$ with bilateral @PHENOTYPICFEATURE$ presenting with renal failure who also underwent bilateral native nephrectomies on follow up.	false
+d74f9522ad3b828e2f177a6d681c3e268dfe37aa	A 49-year-old woman with @DISEASE$ visited our hospital complaining of left @PHENOTYPICFEATURE$.	false
+86c15168c58cada4a1b8de9bc96810323959935e	We analyzed the DAX-1 genes of two unrelated Japanese patients with @DISEASE$ and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic sequencing, and established that congenital adrenal hypoplasia and hypogonadotropic hypogonadism result from not only inherited but also de novo @PHENOTYPICFEATURE$ in the DAX-1 gene.	false
+4c91138c25990b69edd3a4a5367cf35bea587406	We analyzed the DAX-1 genes of two unrelated Japanese patients with congenital adrenal hypoplasia and hypogonadotropic hypogonadism using PCR amplification of genomic DNA and complete exonic sequencing, and established that @DISEASE$ and hypogonadotropic hypogonadism result from not only inherited but also de novo @PHENOTYPICFEATURE$ in the DAX-1 gene.	false
+5e5c83cf37b7c41727350229af525a77003f7415	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, @PHENOTYPICFEATURE$, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+51b9224b8a5dc184c0ac9fb6ecbdddb0dab78d4e	Tall stature is a feature in some patients with adrenocorticotropic hormone resistance syndromes and @PHENOTYPICFEATURE$ is recognized in the IMAGe (intrauterine growth retardation, metaphyseal dysplasia, @DISEASE$ and genital anomalies) association.	false
+872dd070cee19707caead35abd4418254eae49a5	Two unrelated boys with @DISEASE$ and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, @PHENOTYPICFEATURE$, psychomotor retardation, and muscular dystrophy.	false
+9d843bcd87ad53e1bbbb8337215828fd117b573a	[@DISEASE$ associated with myopathy with muscle hypotonia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+5906b50f8d0ba1e62fb21f45d35328e9153b6577	We report the case of a 12-year-old boy with a de novo @PHENOTYPICFEATURE$ in the DAX1 gene (for dosage-sensitive sex reversal, @DISEASE$ critical region on the X chromosome, gene 1; also called NROB1).	false
+38df4ff9aa49a0c7c3daa12f1d50564470cdd9ea	We report a typical case of @DISEASE$ harboring a de novo @PHENOTYPICFEATURE$ in the ATP1A3 gene, together with a duplication and insertion in the SLC2A1 gene who exhibited marked clinical improvement following ketogenic diet.	false
+c710ae54ee33a77eb6d2bc80545d68bdd5632b73	These results clearly indicate that @DISEASE$ and hypogonadotropic hypogonadism result from not only inherited but also de novo @PHENOTYPICFEATURE$ in the DAX-1 gene.	false
+5fe3b839938419d1b03d98cf087b080b20cb90fa	We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), @DISEASE$, aniridia, @PHENOTYPICFEATURE$, intrauterine growth retardation, and minor skeletal abnormalities.	false
+e500255c78fdedaf8bed09e0230bf4ade2944386	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, @PHENOTYPICFEATURE$, and Sensorineural hearing loss).	false
+b3e72650e2cab9d42888377d5da996827a2104cd	deletion syndrome (DiGeorge syndrome/@DISEASE$) typically exhibit @PHENOTYPICFEATURE$, conotruncal cardiac defects, and hypoparathyroidism.	false
+a07b2351f24c27e6c0835bd71a791e9f0a48aa64	Chromosome @DISEASE$ (22q11DS) is a congenital anomaly characterized by cardiovascular, oropharyngeal, immunologic, endocrine, and @PHENOTYPICFEATURE$.	false
+6a644a8547f66d56527edf73b0f7c66e846efd9e	@DISEASE$ (22q11DS) represents a common genetic disorder causing immunodeficiency from @PHENOTYPICFEATURE$ or aplasia, heart defects, a characteristic facial appearance, and velopharyngeal dysfunction.	false
+5a482ba69923dc64000cb829974b130603f8ef0a	deletion, also known as DiGeorge/@DISEASE$, has common features that include cardiac abnormalities, @PHENOTYPICFEATURE$, characteristic face, hypocalcemia, cognitive delay, palatal defects, velopharyngeal insufficiency, and other malformations, the microduplication syndrome is largely undetected.	false
+f2f5e4400dfd02e518315f321cce8db1a96e3ceb	Three had nonspecific @PHENOTYPICFEATURE$ and were diagnosed later in life with underlying disorders (myotonic dystrophy, CHARGE association, @DISEASE$).	false
+52ff617a714fffbe375b427dd56d6bbd8e9a0005	DS) is characterized by cardiac defects, abnormal facial features, @PHENOTYPICFEATURE$, cleft palate, and hypocalcemia, including DiGeorge syndrome (DGS), @DISEASE$ (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+96d7df253dc60398b842bac68bec26f0471b1477	The DiGeorge/22q11-deletion syndrome (22q11DS), also known as @DISEASE$, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and @PHENOTYPICFEATURE$, and mental disorders.	false
+8f1c660fb3b9123d6805b58a526f82558cc0edc3	The DiGeorge/@DISEASE$ (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and @PHENOTYPICFEATURE$, and mental disorders.	false
+03c704ec297d0e6165298efcb48e8524592a21c7	@DISEASE$ and @PHENOTYPICFEATURE$: report on two Brazilian patients.	false
+89f52919337b900fac75f0c7ca5a2f991940db66	Deletion of chromosome 22q11 (@DISEASE$) is associated with early @PHENOTYPICFEATURE$ and with schizophrenia in adults.	false
+af9bf9cacaf16568d3d602c8283fdc29c8ab4343	It is well known that typical cases of @DISEASE$ have a cardiac anomaly, @PHENOTYPICFEATURE$ and a cleft palate.	false
+3cb30e4810f6489f830247995a654f6561b78189	The combination therapy of radiation, @PHENOTYPICFEATURE$ and IA carboplatin is safe and well-tolerated for locally recurrent @DISEASE$.	false
+c6116c8b07d1d0e29389cf3945a97d53eeda44e7	@PHENOTYPICFEATURE$ and radiotherapy with or without chemotherapy in locally advanced @DISEASE$: a systematic review with conventional and network meta-analyses.	false
+aac30f7b30b7ca64d8528c2a5bee08532a9eb9e5	RF-power and temperature data analysis of 444 patients with primary @DISEASE$: deep @PHENOTYPICFEATURE$ using the Sigma-60 applicator is reproducible.	false
+b768c5cddcc91da18c0f313643483228be917566	Few of the @PHENOTYPICFEATURE$ reviews referenced research and data from LMICs themselves; @DISEASE$ reviews were more likely to do so.	false
+277d201ba9f9292efbacd58c993936592a470166	Through our systematic search, 63 out of the 94 identified @DISEASE$ reviews met our selection criteria and 36 of the 54 in @PHENOTYPICFEATURE$.	false
+5706baa2eb44eadde67917f299243c32c646cbdb	Based on literature reviews, we selected six innovations with proven effectiveness against @DISEASE$, Hodgkin's disease, @PHENOTYPICFEATURE$, testicular cancer, and leukaemia.	false
+c8727802aa9ca061ffda26f0b5d69fe72f8810a7	Phase I study of combined radiation, @PHENOTYPICFEATURE$ and intra-arterial carboplatin for local recurrence of @DISEASE$.	false
+8dee3d7beb4a6b37cdd60b35369d5f7d3c42c19d	Four quality measures were defined to evaluate physician practices: annual @DISEASE$ screening, influenza vaccination and @PHENOTYPICFEATURE$ screening, and biennial mammography.	false
+8d4d49e7e3bf38bb0d0ebfd82d684ff988d6edd7	@DISEASE$ reviews were more likely to focus upon prevention and screening, while @PHENOTYPICFEATURE$ reviews were more likely to focus upon treatment and survivorship.	false
+bcbc2563cb5bc92b116e3e904c7ed33ec68341fd	A 52-year-old woman with a history of advanced @DISEASE$ developed a @PHENOTYPICFEATURE$ and was diagnosed with a left uretero-colic fistula.	false
+0fda35165569d596fb7c28bf3a5fb24e80db4358	Temtamy and McKusick (1978) introduced the term "terminal transverse defects with orofacial malformations (TTV-OFM)" as a formal genesis syndrome (etiologically undefined) to include the following clinical entities: (1) aglossia-adactylia syndrome; (2) ankyloglossum (superius) syndrome; (3) @DISEASE$; (4) @PHENOTYPICFEATURE$ with OFM; and (5) M?bius syndrome with digital malformations (including the Charlie "M" syndrome).	false
+96d944e61212b96c11a8fe5909535bb58f5c1789	Temtamy and McKusick (1978) introduced the term "terminal transverse defects with orofacial malformations (TTV-OFM)" as a formal genesis syndrome (etiologically undefined) to include the following clinical entities: (1) @DISEASE$; (2) ankyloglossum (superius) syndrome; (3) Hanhart syndrome; (4) @PHENOTYPICFEATURE$ with OFM; and (5) M?bius syndrome with digital malformations (including the Charlie "M" syndrome).	false
+17db6bc76d07176f1fba732b5ce3046787ec9af3	We report a case of @DISEASE$ that in addition to features already described also had supernumerary nipples, @PHENOTYPICFEATURE$ and micropenis with cryptorchidism.	false
+455043d01d3df0908755d8ff7565802a49f2e409	@DISEASE$ (DM) is the most common form of adult onset @PHENOTYPICFEATURE$.	false
+7cc7daad63f2cdb979c1975d25359b7bffb5f58d	[Excessive daytime sleepiness, central type @PHENOTYPICFEATURE$ and @DISEASE$].	false
+a15604351db398fcd4504f2add7afd314eb0c93e	@DISEASE$ (MyD), the most common adult form of @PHENOTYPICFEATURE$, is often complicated by diabetes.	false
+dd4770bf9403fc77ac3e6c9fad0f9f45a7bb6f7d	We report the case of a 46-year-old male with @DISEASE$ who developed daytime @PHENOTYPICFEATURE$ and dyspnoea.	false
+b66dee9dc41e639263e2c06bc33ddbae747920ee	Relationship between cardiac arrhythmias and @PHENOTYPICFEATURE$ in permanently paced patients with type I @DISEASE$.	false
+18df265f54ecf4b48285ace0d1abb5846c5484bc	@DISEASE$ is a relatively common type of @PHENOTYPICFEATURE$, associated with a variety of systemic complications.	false
+019b26aed764ebf734ad4673d6ae3edc318e6936	Internal auditory canal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ad0381fd0f2f56671f61aae8fe715d2251020377	These conditions occur in chronic progressive external ophthalmoplegia, oculopharyngeal muscular dystrophy, mitochondrial myopathy, @DISEASE$, and ocular @PHENOTYPICFEATURE$, among others.	false
+ad19e2502ba15410e67e366eeefa8ec6e15f81a9	@DISEASE$, the most common form of adult @PHENOTYPICFEATURE$, comprise at least two forms, clinically and genetically heterogeneous.	false
+30d9301198c2ba552224f390d0b5b879d4b4bcf6	@DISEASE$ is the most frequent, autosomal dominantly inherited @PHENOTYPICFEATURE$.	false
+6f8ebfa0e1b880af7985fa54f4d3d62ad43143bd	@DISEASE$, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, @PHENOTYPICFEATURE$, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.	false
+b7cab4acb5243e752a35574e17445794292bc3f4	@DISEASE$ was initially described as a syndrome including obesity, hypotonia, mental deficiency, and facial, oral, ocular and @PHENOTYPICFEATURE$.	false
+0712eb507cae2a304120be409cf3bac176e7576f	As proof of principle, we apply the proposed methods to VPS13B, a gene mutated in the rare neurodevelopmental disorder called @DISEASE$, and recently reported with recessive variants in @PHENOTYPICFEATURE$.	false
+0e2a61427f547d75cd90e90b47fc53641c392c97	Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+951d4c75fc77272d112f649235b395b76fd1941f	The authors report a case with features of the @DISEASE$: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, @PHENOTYPICFEATURE$ associated with other clinical expressivity present among the previous reported cases.	false
+9908f9e7a243486163ea2045a599850f39c0b542	The @DISEASE$ is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and @PHENOTYPICFEATURE$.	false
+7942d294c9ea080e35e1c6a76f403e1d2b1c6c4a	Although autistic-type behaviour was observed, an increased prevalence of @PHENOTYPICFEATURE$ in @DISEASE$ was not confirmed.	false
+ebe5f6b5fd4b01c1dc5906d510820118d9fceedf	This paper describes several genetic diseases consistently associated with @PHENOTYPICFEATURE$ (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, @DISEASE$, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them.	false
+d6e93dd61862c143a4b66d8a1e9635b42507817e	This treatment also produces a marked inhibition of both hepatic and renal 4-hydroxyphenylpyruvate dioxygenase (@DISEASE$) activity, an induction of hepatic but not renal tyrosine amino transferase activity, and a marked @PHENOTYPICFEATURE$ in the plasma and aqueous humor.	false
+5dd4dcf14a50da56a9d63cce7d28be623dd6fa17	@PHENOTYPICFEATURE$, even when combined with exercise, decreases hip @DISEASE$ in obese older adults.	false
+28e25f0bb2b11bb827dd661275b86d0373a62c30	The purpose of this study is to examine the relation of low bone mineral density (@DISEASE$) with @PHENOTYPICFEATURE$.	false
+8e0115331041285dd11a8320b1011f3058ef7054	@PHENOTYPICFEATURE$ and @DISEASE$ often occur earlier in the course of DKD than with other forms of chronic kidney disease.	false
+803353db593f894770f5b80b5044d0d087f1b904	@DISEASE$ loss is persistent over time and predominantly situated at the femoral level, and strongly associated with @PHENOTYPICFEATURE$.	false
+d33b85e2392adbc438450616c262abf177160fb8	Changes in beta-CTX and total hip @DISEASE$ were significantly associated with @PHENOTYPICFEATURE$, which is known to increase bone resorption markers and decrease BMD.	false
+ed27578846716e771b0af91107f62389d36e10a7	Changes in beta-CTX and total hip BMD were significantly associated with @PHENOTYPICFEATURE$, which is known to increase bone resorption markers and decrease @DISEASE$.	false
+1ae17a4c120c0c14463ed81ce10dec2eaf674e80	Consistent with histological analyses, the @PHENOTYPICFEATURE$ observed in EAE mice was inhibited with BMD treatment, indicating the functional significance of the neuroprotective effect of @DISEASE$.	false
+5ab018c0a6a961b07d784e2a5175e34f00f629a5	Consistent with histological analyses, the @PHENOTYPICFEATURE$ observed in EAE mice was inhibited with @DISEASE$ treatment, indicating the functional significance of the neuroprotective effect of BMD.	false
+a14f93e8a08bcd6d7680a2f1d975507245a55b14	This study found that Hb and @PHENOTYPICFEATURE$ status were associated with @DISEASE$ scores.	false
+caa6101a8f72861c2dd46eb492dc1871720c2a57	Patients with DMD and @DISEASE$ should be screened systematically for @PHENOTYPICFEATURE$.	false
+8c47bdf999a00125b4b4c7a31f9ced46b78f97a0	In young women with amenorrhea associated with @PHENOTYPICFEATURE$, @DISEASE$ loss will be occurring soon after the amenorrhea develops.	false
+0954879f301b93bfe0f9e58b337c1ecf8ce69f2d	Lumbar spine @DISEASE$ had negative correlations with BASDAI, BASFI, spine @PHENOTYPICFEATURE$, ESR, and CRP (P?<?0.05).	false
+6761f15ffca160bf0b1bab7131613a137a1d8227	The phenotypes of the described individuals are mainly characterized by axial @DISEASE$, oligodontia, short stature, and mild @PHENOTYPICFEATURE$.	false
+2256944e75a4a204141eeef974bcfce5182c0682	The phenotypes of the described individuals are mainly characterized by axial @DISEASE$, oligodontia, @PHENOTYPICFEATURE$, and mild facial dysmorphisms.	false
+77bc71250d35119c936d522dad116dbd44363ad6	Commonly reported CDs included Down syndrome, @DISEASE$, talipes equinovarus, neural tube defects and @PHENOTYPICFEATURE$.	false
+904b97ecf768ca6ba8961da8f4c238d6cb9ccd5c	An/micr-ophthalmia, @DISEASE$, and @PHENOTYPICFEATURE$: a new syndrome simulating a short rib syndrome.	false
+a58a1cbf903b5811798819843a03ee16b6b2cc47	Affected individuals are short in stature and have @PHENOTYPICFEATURE$, and may have @DISEASE$, defects in the central nervous system, heart, and various other organs.	false
+88efcb7fb4cb251c30da41dd328d7be004fe80e4	This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline @DISEASE$, hypoplastic chest with short ribs, slightly protuberant abdomen, @PHENOTYPICFEATURE$, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer).	false
+46341e0214474d9912ad031979da308fc0c0c6c8	A 32-year-old woman underwent amniocentesis at 22 weeks of gestation because of bilateral @DISEASE$ and @PHENOTYPICFEATURE$ on prenatal ultrasound.	false
+9d0aaf5047858127df0427e11ca243067806d4c9	@PHENOTYPICFEATURE$ in @DISEASE$: a population-based follow-up study of children after ventilation tubes.	false
+6ba87ecc1855bf8c93cf89fbdeff585d9148f654	Acquired @PHENOTYPICFEATURE$ was 3 times more common in @DISEASE$ than cleft palate alone (p=0.002,	false
+47b3e20bc009b2440c05a75ef9748e2ed038af10	A case is described which, at birth, had a bizarre pattern of @PHENOTYPICFEATURE$ (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral @DISEASE$.	false
+284a7a6aab4c53483d8061189efa8dc7a847ea5a	Other clinical features were frontal bossing, kyphoscoliosis, rib anomalies, coalitio, @DISEASE$, eye anomalies, @PHENOTYPICFEATURE$ and syndactyly.	false
+1654719ea84cb310ea4ae24408635e1c80fc9968	We report on two sibs, born to consanguineous parents, with defects of the midline including @DISEASE$, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to @PHENOTYPICFEATURE$, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism.	false
+d351570a6450be7a71543071d24203e62e0f67b3	Cytogenetic evaluation of peripheral blood lymphocytes and @PHENOTYPICFEATURE$ cells showed premature centromere separation, which is characteristic of @DISEASE$.	false
+4bb400c0890779830709c44aaa1bb00250279110	Clinical heterogeneity of @PHENOTYPICFEATURE$ in @DISEASE$: a review.	false
+e8a51d22af270a57127db8882750454ea2b75a9d	Cultured lymphocytes from both patients, and skin fibroblasts, Epstein Barr virus-transformed lymphocytes, and @PHENOTYPICFEATURE$ cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe @DISEASE$.	false
+fad37b1ce36b169f3454f5ff414d676760bdd3f9	Other applications that have either been considered or are undergoing clinical trial are based on the ubiquitous tissue-building properties of IGF-I and include chronic liver disease, cystic fibrosis, wound healing, AIDS muscle wasting, burns, osteoporosis, Crohn's disease, anorexia nervosa, @DISEASE$, X-linked severe combined immunodeficiency, Alzheimer's disease, @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis, hearing loss prevention, spinal cord injury, cardiovascular protection, and prevention of retinopathy of prematurity.	false
+2297f287ca8e73110f45930204a69d382996dc8e	The biological significance of these metal ion-catalyzed reactions is highlighted by the demonstration: (i) that oxidative modification of proteins "marks" them for degradation by most common proteases and especially by the cytosolic multicatalytic proteinase from mammalian cells; (ii) protein oxidation contributes substantially to the intracellular pool of catalytically inactive and less active, thermolabile forms of enzymes which accumulate in cells during aging, oxidative stress, and in various pathological states, including premature aging diseases (progeria, @DISEASE$), @PHENOTYPICFEATURE$, rheumatoid arthritis, cataractogenesis, chronic alcohol toxicity, pulmonary emphysema, and during tissue injury provoked by ischemia-reperfusion. Furthermore, the metal ion-catalyzed protein oxidation is the basis of biological mechanisms for regulating changes in enzyme levels in response to shifts from anaerobic to aerobic metabolism, and probably from one nutritional state to another.	false
+e0c32fb3454105c682b0ceda1ff7c439640012cc	The first group, syndromic-associated tumors, includes phosphase and tensin (PTEN)-@PHENOTYPICFEATURE$ tumor syndrome/Cowden syndrome, familial adenomatous polyposis/Gardner syndrome, Carney complex type 1, @DISEASE$, and Pendred syndrome.	false
+95d51b124a2b71d524c503937c1ec72bd8d987c3	Wolfram syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+43e2e1bac84c6957c4fbb7c09ac6797f8a600144	@DISEASE$ in a patient with hemophilia, common variable @PHENOTYPICFEATURE$, and the acquired immunodeficiency syndrome.	false
+a6c42a08b8edf8af8014b373eaeea02310f7f7b4	The main symptoms associated with @DISEASE$ include @PHENOTYPICFEATURE$, vomiting and abdominal pain with propensity for prolonged duration of diarrhea.	false
+20715da6e5c2ec35c89000f55549c17bdee22b88	It has been proposed that this variability is due to a combination of the apo E2/2 phenotype and additional genetic factors implicated in diseases like familial @DISEASE$ combined @PHENOTYPICFEATURE$, and familial hypertriglyceridemia.	false
+4793f9ac64824a401acf11d4a26deef5482572be	Changes in ultracentrifugally separated plasma lipoprotein subfractions in patients with polygenic @DISEASE$ combined @PHENOTYPICFEATURE$, and familial hypercholesterolemia after treatment with atorvastatin.	false
+dd731929e48beb042f0bcb6fa5cadc36afc1804f	@DISEASE$ (PS) is a rare autosomal recessive condition with ovarian dysgenesis, hearing deficit and @PHENOTYPICFEATURE$ in female patients.	false
+442a76b4f3bf0782ef5bad4a4bce578af58485f6	We report a child with @DISEASE$ glomerulonephritis who presented with fever, gastrointestinal symptoms, @PHENOTYPICFEATURE$, hypertension and abnormal urine findings including microscopic hematuria and proteinuria.	false
+0bc137c6fdbb02347dcec72a6be5c5b79e7268a7	Characteristic features of @DISEASE$ myocarditis are inflammation of the heart intramural vessels, microcirculatory disturbances, @PHENOTYPICFEATURE$ and lymphocytic-macrophogeal infiltration of the stroma, sometimes with formation of granulomas, dystrophic and necrotic changes of cardiomyocytes.	false
+f7b90479a98c26b1f5901e5a1a36eb1dff3b851a	We present the case of a 27 year-old male patient who was admitted for elective scoliosis correction surgery and who represented after an uncomplicated discharge with headache and @PHENOTYPICFEATURE$; because of a gaze palsy he underwent brain imaging that confirmed a brainstem abnormality, consistent with the syndrome of horizontal gaze palsy with progressive scoliosis (@DISEASE$), a rare autosomal recessive human disease.	false
+eb52720ff5c6425f166c589405dbf79e1b0cd388	We also describe a 39-year-old man with @DISEASE$, who was initially diagnosed as having @PHENOTYPICFEATURE$ masses, but was later proved, by magnetic resonance imaging, to have extramedullary erythropoietic tissue.	false
+fc2dc4f1f22b1215135bcb6e2259520267e06b3f	Extramedullary hematopoiesis with multiple @PHENOTYPICFEATURE$-simulating mediastinal masses in a patient with @DISEASE$.	false
+715b1c4033af6c4a07bbe488a957e6429baff0f1	The outcome measures were the presence and characteristics of @DISEASE$, enophthalmos, @PHENOTYPICFEATURE$ and keratometry values.	false
+23516053764b59e6fbd02db8396cc3a1c92752ea	To investigate the feasibility of the Zucker fatty (ZF) rat as a model for research in to @PHENOTYPICFEATURE$-associated erectile dysfunction (@DISEASE$) and to determine the effect of low-intensity extracorporeal shockwave therapy (Li-ESWT) on penile tissue and function in these rats.	false
+13213211deeeacf359a7af646dae959772b6cc54	Most clinical features of our patient were consistent with those previous reported for (UPD@DISEASE$ cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild @PHENOTYPICFEATURE$, but our patient showed more severe intellectual disability and no sign of precocious puberty.	false
+d1f328fc1a459fc8f5b812583ce914228068c56a	Risk factors included hypertension (HTN), diabetes, and hyperlipidemia (@DISEASE$) and CV events included myocardial infarction, angina, @PHENOTYPICFEATURE$, and stroke.	false
+7400cca92b0040718e77ab4e7431439fb680e873	Report on a patient with congenital muscular dystrophy, @PHENOTYPICFEATURE$, Dandy-Walker malformation and @DISEASE$.	false
+fd24be86acfaed05b3aad1ff17a7ec51984c9bf4	Type 2 diabetes (T2D), obstructive sleep apnea (OSA), hypertension (HTN), and hyperlipidemia (@DISEASE$) are common co-morbidities that are strongly associated with @PHENOTYPICFEATURE$.	false
+5e16cb5f353a7dfaa16be70b788ef24b567862a6	The first, autosomal dominant @DISEASE$, is characterized clinically by early @PHENOTYPICFEATURE$ and genetically by LMNB1 (lamin B1 gene) duplication.	false
+8d09313e6acd21b3f6ef6e3d90a6cc115a488ef5	Childhood @PHENOTYPICFEATURE$ is a risk factor for @DISEASE$ and many other diseases, which increases its importance as a public health priority.	false
+ae540a9af73c008a9d381e6a80eaa88e86d49c2e	We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of @PHENOTYPICFEATURE$, Dandy-Walker malformation and @DISEASE$.	false
+5278f92a081f96111b90c5ae646c4c9c78c709c3	There were no statistically significant differences in bacterial abundance levels for Bacteroides or Prevotella when comparing patients with and without DM, @PHENOTYPICFEATURE$ (BMI?>30), HTN or @DISEASE$.	false
+1a6478548d5976f44ff58051202c3cd330228d7e	In humans, the CD syndrome is marked by early onset, @PHENOTYPICFEATURE$, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive @DISEASE$.	false
+cdbf003385ce6da3afc7f3b3c2c6966565a98928	We report here a family with @DISEASE$ clinical features of which are characterized as adult onset, probably autosomal dominant inheritance, hyperreflexia, cerebellar ataxia, @PHENOTYPICFEATURE$ and no peripheral nerve involvement.	false
+ee8f2d0234aa1cb6b5e564296d955b33bf1bae7d	Increased prevalence of DM-2, @DISEASE$, HTN, and @PHENOTYPICFEATURE$ (OR 1.7, 1.5, 1.5, 1.5 respectively) was noted in the PsA group.	false
+9ae20608551c6ffac5fe2f785d1aea9c829779d3	The percentages of chemotherapy recipients who were hospitalized or visited the emergency room during the year after their breast cancer diagnosis were 8.4% for fever or infection; 5.5% for neutropenia or @DISEASE$.5% for dehydration or electrolyte disorders; 2.4% for nausea, emesis, or diarrhea; 2.2% for @PHENOTYPICFEATURE$; 2% for constitutional symptoms; 1.2% for deep venous thrombosis or pulmonary embolus; and 0.9% for malnutrition.	false
+54d218168be8e6a296b6e9a9ea50544c9facdab0	AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, @PHENOTYPICFEATURE$ susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, @DISEASE$-deficiency, mitochondrial disorders, or myopathy with tubular aggregates.	false
+ae8c5177d5a7ba05cc65a5809fa470e2cb4f00cf	@DISEASE$ and @PHENOTYPICFEATURE$ in the absence of maternal connective tissue disease.	false
+903960e0d020b9b1d298044c3a7169586757783a	The prognosis of infants with @DISEASE$ is reviewed and the possible association with @PHENOTYPICFEATURE$ discussed.	false
+d072fd6cf475c25ddd8df68a2201bc987c11ea9c	The principal @PHENOTYPICFEATURE$ were tetralogy of Fallot (two), double outlet right ventricle (one), subaortic stenosis (one), transposition of the great arteries and ventricular septal defect (one), atrial septal defect and @DISEASE$ (one), and congenital mitral regurgitation (one).	false
+dd1f0d7bfb2059ed015d0d4c63a9a33ffb63840d	Structural @PHENOTYPICFEATURE$ indicative of primary myocardial maldevelopment are reported in a newborn girl with @DISEASE$.	false
+34a7a43f156020b40caa1b38b0c1e3740b337174	@DISEASE$ (CHB) can result in intrauterine @PHENOTYPICFEATURE$ leading to fetal or neonatal loss.	false
+3f4cc9843ca2404853a3fe8f693ae24711b246f3	Neonatal lupus erythematosus with @DISEASE$ and severe @PHENOTYPICFEATURE$ due to myocarditis and endocardititis of the mitral valve.	false
+ef4fbff03a7716f500f64e5cfeb66d55e6fcd6f8	Complete @DISEASE$ in a neonate with a complex @PHENOTYPICFEATURE$ in Africa.	false
+f5a9c67f34ad33095b859fef9b0568922e904304	@DISEASE$ (CHB) is rare disorder that has a higher mortality when associated with structural @PHENOTYPICFEATURE$.	false
+298ac99acea7bff2a513d7b0e73c9e5a1a42d4c9	The efficacy of maternal administration of ritodrine in cases of @DISEASE$ (CAVB), especially with fetal @PHENOTYPICFEATURE$, is not yet determined.	false
+a8ffc718a1912b8d801877c16da0f68f0bac39bd	We report an extremely low-birth-weight infant affected by @DISEASE$, due to positive anti-RO/SSA and anti-LA/SSB antibodies of the mother, with progressively increasing respiratory distress syndrome and @PHENOTYPICFEATURE$.	false
+955dfc89f1e44517a60dea9cdf0b7c6337d50104	However, these two cases suggest that patients with @DISEASE$ and presenting with @PHENOTYPICFEATURE$ should have biopsies performed to confirm the diagnosis.	false
+be524c0e739c80ffe7476dc3416c4239c08f6b2a	Association of adjuvant antiviral therapy with risk of cancer @PHENOTYPICFEATURE$ and deaths in patients with hepatitis-B-virus-related @DISEASE$ following curative treatment: a nationwide cohort study.	false
+0a73186974e6eabe01df42ab373a50b1e38f0a90	This study found that adjuvant antiviral therapy did not reduce the risk of HCC progression or mortality in HBV-related @DISEASE$ patients after cancer @PHENOTYPICFEATURE$ adjusting.	false
+1cd945f376580c7f3ce2b4a16a1a173c235123ea	The results showed that fatigue and @PHENOTYPICFEATURE$ were the most severe symptoms experienced by patients with @DISEASE$.	false
+c6482619289fcf6b249c4c4d128bde01b481afa3	Comparison of differences and determinants between presence and absence of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+d71f2f42f936b42a6d70f3f41e208839952a2e7e	Typical clinical and electrodiagnostic features of a paraneoplastic @PHENOTYPICFEATURE$, not previously reported in @DISEASE$, were found on investigation.	false
+8fa8230f7c36326d1d16f730ca73eb2600777520	On @DISEASE$ in South America and early-age @PHENOTYPICFEATURE$ of the disease.	false
+9b57bfa811525658914f75ab82680a7ca85d15a1	The objectives of this study were to (1) examine and compare symptom distress, depression, and sleep quality in @DISEASE$ patients undergoing TACE with @PHENOTYPICFEATURE$ versus without sleep disturbance and (2) examine the determinants of sleep disturbance in these patients.	false
+13a7bbaa12df5467e31abb62850c376b0cb6bc25	The objectives of this study were to (1) examine and compare symptom distress, depression, and sleep quality in @DISEASE$ patients undergoing TACE with sleep disturbance versus without @PHENOTYPICFEATURE$ and (2) examine the determinants of sleep disturbance in these patients.	false
+3e65dc2b7e13e5b011bbb0dbe1a4438120fd7cc2	Poorly differentiated @DISEASE$ accompanied by anti-Hu antibody-positive paraneoplastic @PHENOTYPICFEATURE$.	false
+0123b019aac79b18b3bbf4af30a2a9f664bfd54a	The authors describe a case of a patient with a solitary @DISEASE$ @PHENOTYPICFEATURE$ post transarterial chemoembolization.	false
+e000a15875d9a30ccd02782c3421af986833a190	The patient presented a @PHENOTYPICFEATURE$ with hydrocephaly and mental retardation associated with a @DISEASE$.	false
+38bb540a339e52a32d86acaadbd71d41d27d7a9e	Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, @PHENOTYPICFEATURE$, visceromegaly, nephroblastomatosis and predisposition to @DISEASE$.	false
+5c752cbcc69c9ec1fcca6cadcdeee65f160882c6	Delineated features of this syndrome include visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchidism in males, @PHENOTYPICFEATURE$, polyhydramnios, fetal ascites, and @DISEASE$ but do not include hemihypertrophy, omphalocele or umbilical abnormalities, aniridia, or other conditions known to be associated with Wilms tumor.	false
+6b6293a4da3554296e28b7c4bc3d014a80815451	Delineated features of this syndrome include visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchidism in males, @PHENOTYPICFEATURE$, polyhydramnios, fetal ascites, and Wilms tumor but do not include hemihypertrophy, omphalocele or umbilical abnormalities, aniridia, or other conditions known to be associated with @DISEASE$.	false
+71d211925ecf00ff204e497f65deb0d6b4b7f442	In @DISEASE$ several distinct paraneoplastic syndromes have been reported: hypertension, erythrocytosis, @PHENOTYPICFEATURE$, Cushing syndrome, and acquired Von Willebrand disease.	false
+a54bfb5c7127ddc18407cb18f4c0802d80ffaf28	@PHENOTYPICFEATURE$ and elevated parathyroid hormone levels in association with @DISEASE$.	false
+34e7bcda06fb795ad7b7c8e6189822d71edce84a	Although histopathological findings showed end-stage kidney, isolated @PHENOTYPICFEATURE$ (IDMS) was suspected because of his clinical course, and was confirmed by the presence of WT1 (@DISEASE$ suppressor gene) mutation.	false
+1f8f9d83a43bf50784ca6b0488724effddb33772	Thirty episodes of @PHENOTYPICFEATURE$ were observed in 20 children with solid tumors: principally 9 cases of non Hodgkin's lymphomas, 4 cases of rhabdomyosarcomas and 4 cases of @DISEASE$.	false
+e9e178b58b3ca7b8cdb3147f3f26f586d48b209b	Aminoglycoside (AMG)-induced renal toxicity is well-known and may manifest with non-oliguric @PHENOTYPICFEATURE$ or renal tubular dysfunction like @DISEASE$, Barter syndrome-like syndrome or distal renal tubular acidosis (RTA).	false
+15ba573287b5d7bd3525b1d872a8abd7e3958f2f	@DISEASE$ (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, @PHENOTYPICFEATURE$, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis.	false
+bba89227bf553f6f7449b1646a697dcb5b32d2ad	@DISEASE$ is an X-linked @PHENOTYPICFEATURE$ syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types.	false
+7dbbbf540de43f60107a5eb377809b9521374dff	@DISEASE$ is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to @PHENOTYPICFEATURE$, and early onset seizures of variable types.	false
+bab283fbf75f6ca5f022978cb4bee37b6ff10b7b	@DISEASE$ (CS) is caused by mutations in SLC9A6 and is characterized by severe @PHENOTYPICFEATURE$, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities.	false
+5a21f5600344d32914585093ba276291ea1343cd	@DISEASE$ (CS) is a X-linked neurodevelopmental disorder, including severe @PHENOTYPICFEATURE$ (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy.	false
+dad76f1d066cc7944aeecb7ef6f448d993b833e9	@DISEASE$ (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe @PHENOTYPICFEATURE$ with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy.	false
+03825a934572c647904ba216b115bd4908c7daa8	Mutations in SLC9A6 are associated with @DISEASE$ (OMIM 300243), a syndromic form of X-linked @PHENOTYPICFEATURE$ (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.	false
+ec58e61ce510b04f10a849ed061a217e38a2224e	@DISEASE$ (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and @PHENOTYPICFEATURE$, developmental regression, epilepsy, microcephaly and impaired ocular movements.	false
+c467ad2da05d82b4c271f6eeaaf27440bf883df2	Subsequently, other mutations were found in a male with @PHENOTYPICFEATURE$ (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having @DISEASE$.	false
+448d59c7b37e07cbc4eba7b57f15476d5952bbb8	Indirect effects include intoxication, withdrawal, brain trauma, @PHENOTYPICFEATURE$, hypoglycemia, hepatic failure, and @DISEASE$.	false
+7a965f2271b6239d75576383ff77b0794d1ef3f5	@DISEASE$ such as rickets, osteomalacia, renal osteodystrophy, @PHENOTYPICFEATURE$, and osteoporosis often lead to subtle alterations in the patient's clinical status and to severe and disabling changes in the patient's bone structure.	false
+9aee0c8c1002bd7bbb0a9a1497653f7525012de9	On the basis of the results of radiological studies, postmortem examinations, peripheral quantitative computed tomography scanning and four-point bending tests, it was concluded that the @PHENOTYPICFEATURE$ were probably due to @DISEASE$.	false
+065da25efcc075d639958b703464bd3baa77c7d3	So far global and regional organisations in geriatrics/internal medicine, orthopaedics, @PHENOTYPICFEATURE$/@DISEASE$, rehabilitation and rheumatology were contacted as well as national organisations in five highly populated countries (Brazil, China, India, Japan and the United States), resulting in 81societies endorsing the CtA.	false
+8bf09f1ca896d42f7de8556f5e005c2b9325a378	In addition to @DISEASE$, patients with aluminum toxicity are also prone to other complications such as @PHENOTYPICFEATURE$ and cholestasis.	false
+d9e5b9f5857edacc7507bcc154c6c524405c08aa	@PHENOTYPICFEATURE$ and Paget's disease of bone are the most common @DISEASE$.	false
+af00b7b775499aef5d119ca2ad61e87dc6141463	Postmenopausal @PHENOTYPICFEATURE$ is the most frequent @DISEASE$; it is characterized by a rapid loss of mineralized bone tissue.	false
+6facbf185c8fc32e38f97e7223766412e082f6a8	Other @DISEASE$ like @PHENOTYPICFEATURE$, hyperparathyroidism and pseudohypoparathyroidism are rarely encountered in pregnancy.	false
+6c71840cad62eb6d697752711345283b0231fe24	This paper is a review of the methods of measurement, their precision and methods of calibration, and the relationship of calcaneal mineral content to age, height, weight, other bone sites, degree of spinal @PHENOTYPICFEATURE$, @DISEASE$ and the effects of therapeutic drugs.	false
+32917c9b99b922eda099bbdbf794049331a70064	Conventional radiography can detect most fractures, evaluate their healing, and visualize characteristic @PHENOTYPICFEATURE$ for some @DISEASE$.	false
+45820a15967f57002dff20c2121848f52a6e723a	Fuchs' endothelial corneal dystrophy (@DISEASE$) was initially described by Fuchs in 1910 as a combination of epithelial and stromal @PHENOTYPICFEATURE$ in older patients.	false
+d41e96423ff87ff8eae3177751163fa43be3545e	@DISEASE$ (FECD) was initially described by Fuchs in 1910 as a combination of epithelial and stromal @PHENOTYPICFEATURE$ in older patients.	false
+201b51afeff0954cb541aec583303b58cb9baba8	more @PHENOTYPICFEATURE$ in the @DISEASE$ group after 3 hours (P < 0.001).	false
+8b12ce929a81854c515fe76a3599c669eeceee25	Advanced @DISEASE$ involves a thickening of the cornea from stromal @PHENOTYPICFEATURE$ and changes in Descemet membrane.	false
+6a0a7c8ace4685469ca1fdbd3e985c11d13d4d6a	Re: Sun et?al.: Determining subclinical @PHENOTYPICFEATURE$ in @DISEASE$: revised classification using Scheimpflug tomography for preoperative assessment (Ophthalmology.	false
+23a81bbfb4cb9ea67e26a33683844b79f7816c48	@DISEASE$ was classified into early (without edema) and late stage (with @PHENOTYPICFEATURE$).	false
+0f600a4a713edfececb9ed01b49a988ea1bb6e4e	@DISEASE$ was classified into early (without @PHENOTYPICFEATURE$) and late stage (with edema).	false
+975a7813fa057198f7ba03321da75f883f7aa382	more @PHENOTYPICFEATURE$ in the @DISEASE$ group after 2 hours (P < 0.001) and 19.9% (8.6-31.3)	false
+6fdf13a10e430e63d7b88125b9fa5c7c8fa9c189	@DISEASE$ causes corneal stromal and epithelial @PHENOTYPICFEATURE$ and progressively develops into bullous keratopathy, which can eventually lead to blindness.	false
+786380a0b448623fc3221d290fa4d39fe832a8db	Stromal analysis revealed honeycomb @PHENOTYPICFEATURE$ areas, and the endothelium showed a strawberry surface configuration typical of @DISEASE$.	false
+ab1c520ba36fbc30ccb30bf0f7d03f9435d35b80	Intersession reproducibility tended to be worse in the central area than the periphery in FECD without @PHENOTYPICFEATURE$ (CR ? 24.37; CV ? 1.48) and @DISEASE$ with edema (CR ? 36.74;	false
+a7a876c8839f6f7a6d953c4f24eaa1efe4efae30	Intersession reproducibility tended to be worse in the central area than the periphery in FECD without edema (CR ? 24.37; CV ? 1.48) and @DISEASE$ with @PHENOTYPICFEATURE$ (CR ? 36.74;	false
+327e96636631a166422a60105eda6477a2702b32	Intersession reproducibility tended to be worse in the central area than the periphery in @DISEASE$ without edema (CR ? 24.37; CV ? 1.48) and FECD with @PHENOTYPICFEATURE$ (CR ? 36.74;	false
+3ebeb5ff2326555be5b8699c713c56b5bacff219	Intersession reproducibility tended to be worse in the central area than the periphery in @DISEASE$ without @PHENOTYPICFEATURE$ (CR ? 24.37; CV ? 1.48) and FECD with edema (CR ? 36.74;	false
+80f330351e27025c3d8e31829e31d69c72a2eb3b	@DISEASE$ is a severe disease characterized by slowly progressing bilateral asymmetric corneal @PHENOTYPICFEATURE$ usually seen in elderly patients.	false
+0fb5c577772506881b0fdaaeec9b6ecf8bc8559e	There are only 5 cases of @DISEASE$ syndrome associated with @PHENOTYPICFEATURE$ in the literature.	false
+2830d7442619d6a52e966209cd48d159c1d839c8	To assess the frequency and types of @PHENOTYPICFEATURE$ observed among patients with trisomy 18, or @DISEASE$ (ES).	false
+97649a9f4591f445540d10ff1c10f072c3f002e3	The most common malformations associated with @DISEASE$ were @PHENOTYPICFEATURE$ and intrauterine growth restriction.	false
+10b6fa4be51a40dc8b5aff8088407ca961277d22	We present a case of @DISEASE$ syndrome with unilateral @PHENOTYPICFEATURE$ of the left foot, which is an infrequent association.	false
+0f1f23708e2a2309e7668bc2bd42339e86a4bfa9	The case of a newborn male with @DISEASE$ syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral @PHENOTYPICFEATURE$ of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.	false
+35ae0af038f474028839f96582d67c56f509ffa6	@PHENOTYPICFEATURE$ during sleep in @DISEASE$.	false
+851f7a4fd75b4d123c49b6231dac9ec7bd2a67ae	@DISEASE$ patients in late disease stages should, thus, be regularly examined to detect asymptomatic retinal abnormalities and prevent @PHENOTYPICFEATURE$.	false
+a9983fc3b80fcf46661098f74df391b59793bf3d	We administered 20 mg of clomipramine hydrochloride before sleep to two @DISEASE$ patients with periodic nocturnal @PHENOTYPICFEATURE$.	false
+40d8515df4572ecc5dd1b1c9e14ce535169e58b2	There are different approaches to treat @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9cd547b275f0b19172c887129b13cbbaafb85d0e	@PHENOTYPICFEATURE$ in the mdx mouse: a model of @DISEASE$.	false
+668ffbdfd02b68e0fd266c60230f01a20dc027be	Patients with @DISEASE$ and BMD should be screened systematically for @PHENOTYPICFEATURE$.	false
+dba1db834e4ad447bc1f60d52bd487025aa3d6fc	[Treatment of @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+a95494d2cc8b5716abf22ad2df2504e3bedb4c9b	These changes were considered to be the result of @PHENOTYPICFEATURE$ equinus and waddling gait, which are commonly demonstrated in patients with @DISEASE$.	false
+164a8545ce9bdb5b96b7f52fcb8a0293b849092d	The absence of functional dystrophin in @DISEASE$ (DMD) and in one of its animal models, the mdx mouse, leads to a reduction of alpha- and beta-DG in muscle, and is often associated with mental retardation and @PHENOTYPICFEATURE$ synaptic transmission in DMD.	false
+94534e24cd25b4f96f0d2f4c15683a9d929c3493	The absence of functional dystrophin in Duchenne muscular dystrophy (@DISEASE$) and in one of its animal models, the mdx mouse, leads to a reduction of alpha- and beta-DG in muscle, and is often associated with mental retardation and @PHENOTYPICFEATURE$ synaptic transmission in DMD.	false
+36b477639e6252e39ecc5b0a0716d038d47dd4f0	The absence of functional dystrophin in Duchenne muscular dystrophy (DMD) and in one of its animal models, the mdx mouse, leads to a reduction of alpha- and beta-DG in muscle, and is often associated with mental retardation and @PHENOTYPICFEATURE$ synaptic transmission in @DISEASE$.	false
+fa616694902001657c3e4af25de8bf825b4d1510	A second family with nonsyndromic @PHENOTYPICFEATURE$ linked to Xp21.2: refinement of the DFN4 locus within @DISEASE$.	false
+a42fc265fe97b19431ae507a5fec07d9fbb26c24	C5 inhibition prevents @PHENOTYPICFEATURE$ in a mouse model of lethal @DISEASE$.	false
+a2fdede7d22bae9c5dd7fcc7e9c026d6df4cfc8d	In @DISEASE$, uncontrolled complement C3 activation via the alternative pathway results in glomerular C3 deposition and, in many cases, progressive @PHENOTYPICFEATURE$.	false
+af80ffffb5c57df10eee88e1f13d21ef33a5a45b	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, @PHENOTYPICFEATURE$, umbilical hernia and bony abnormalities.	false
+93edb6eaff2330fa45e044b28b6f37a29356f9f5	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, mental retardation, congenital heart disease, syndactyly, preaxial polydactyly, @PHENOTYPICFEATURE$, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+ecedf5e11af68241b1dd55709e73c3e8fd2b4344	Linking @PHENOTYPICFEATURE$, regression and @DISEASE$: integrative role of nerve growth factor.	false
+009056d32ecbacd194d1b6597182c65b8bc1508c	Nevertheless, there are several early epilepsies (late infantile spasms, partial complex epilepsies, epilepsies with CSWS, early forms of @DISEASE$) and with different etiologies (tuberous sclerosis is an important model of these situations) in which a direct relationship between epilepsy and some features of @PHENOTYPICFEATURE$ may be suspected.	false
+d09463e815a4fa0af387f0b7f640ac7bbbe001dd	Neurologic disorders such as @DISEASE$, electrical status epilepticus during slow-wave sleep, infantile spasms, Lennox-Gastaut syndrome, tuberous sclerosis, @PHENOTYPICFEATURE$, and developmental language disorders are useful clinical models in the investigation of this complex relationship.	false
+e451d66f004875e9abfe497a0fceb47768825f50	In the presented @DISEASE$ case rapid improvement in @PHENOTYPICFEATURE$ symptoms was observed in response to antiepileptic drug treatment.	false
+f0c76c8855056c65c92b69f32d6a6a5ae4f348ab	This case is unique for being, to our knowledge, (1) the first in which a lesion located in the right, rather than left, temporal lobe resulted in secondary falsely localizing left temporal lobe electrical status epilepticus with a clinical picture of Landau-Kleffner syndrome and @PHENOTYPICFEATURE$, and (2) the fourth reported patient with lesional @DISEASE$ to respond to resective surgery.	false
+49fa0db3f29a0672189f1682e9cebc034729e86f	This case is unique for being, to our knowledge, (1) the first in which a lesion located in the right, rather than left, temporal lobe resulted in secondary falsely localizing left temporal lobe electrical status epilepticus with a clinical picture of @DISEASE$ and @PHENOTYPICFEATURE$, and (2) the fourth reported patient with lesional Landau-Kleffner syndrome to respond to resective surgery.	false
+6fe956b1497842766009ec3832d411db6c63029f	Mean IgM AA EC titers detected by immunocytochemistry were higher in @PHENOTYPICFEATURE$, PDD-NOS, epilepsy, and @DISEASE$ (p < or = 0.005) compared to HC and NNI.	false
+6e4868f3ebef7ca1a83bfe0362f2b702be278bb9	BDNF levels and IgG/IgM autoantibodies to BDNF, ECs, MBP, and histones were measured in children with @PHENOTYPICFEATURE$, childhood disintegrative disorder (CDD), pervasive developmental delay-not otherwise specified (PDD-nos), acquired epilepsy, Landau-Kleffner syndrome (@DISEASE$); healthy children (HC), and children with non-neurological illnesses (NNI).	false
+db7fa879cbb5a021ef54cef3e8fe4a01724362d8	BDNF levels and IgG/IgM autoantibodies to BDNF, ECs, MBP, and histones were measured in children with @PHENOTYPICFEATURE$, childhood disintegrative disorder (CDD), pervasive developmental delay-not otherwise specified (PDD-nos), acquired epilepsy, @DISEASE$ (LKS); healthy children (HC), and children with non-neurological illnesses (NNI).	false
+796eb4a13398c9b7c524bee37d7c8771b5f8a032	The CSWSS and @DISEASE$ patients can also have behavioral manifestations that overlap the spectrum of @PHENOTYPICFEATURE$ disorders (ASD).	false
+c229aa29f068eef4e69645b8f7800b5de9c0b885	A link has been postulated between regressive @PHENOTYPICFEATURE$ and the spectrum of epileptic encephalopathic conditions including @DISEASE$ with the suggestion that subclinical epilepsy may be causative of regression in autism.	false
+55edc56505140dcda9d7e311bb11155e829ce24d	In addition, there are conditions of suspected autoimmune etiology such as @DISEASE$ (FIRES) and rapid-onset @PHENOTYPICFEATURE$, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome that are rare, but when they do present, it is often to the ICU.	false
+1e82e81bbe091de1dcc67cff60e0578234b7642d	In addition, there are conditions of suspected autoimmune etiology such as febrile infection-related epilepsy syndrome (@DISEASE$) and rapid-onset @PHENOTYPICFEATURE$, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome that are rare, but when they do present, it is often to the ICU.	false
+79f477753068fcb4e7e2400d9c55c563370fee75	We present a fetus with typical manifestations of distal monosomy 13q (oligodactyly, @PHENOTYPICFEATURE$, @DISEASE$, hypoplastic kidneys) and der( 13)t( 1 ; 13)(q42;q21)pat.	false
+59caa3391467c2cb574498fa44ff05891139b235	We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bed3e73593798c8080d991aeb68e932cccf2e046	Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, vision problems and conductive hearing impairment.	false
+9e8f6bff4470864acc867a124fc96ef60a2a4dd6	Expanded extracolonic @PHENOTYPICFEATURE$ spectrum in @DISEASE$.	false
+ea072515324834dbf78963b147e9aaa0df8a57e2	@DISEASE$ @PHENOTYPICFEATURE$ may then progress to cancer along a distinct genetic pathway.	false
+0d0b9199a11b337aea2de3b56bd9ebcbea4376f8	Loss of HLA class I expression is thus a frequent event in @DISEASE$ carcinomas, similarly to MMR-deficient colorectal @PHENOTYPICFEATURE$.	false
+9037a5c4042fbf80eccc9e4cf7edd2b071300b47	Extra-intestinal cancers have also been reported in patients with @DISEASE$; however the @PHENOTYPICFEATURE$ spectrum is still evolving.	false
+e18e2ff3edb27dd319755456a2c13cece4b09ec8	We have studied the frequency of HLA class I expression defects in @DISEASE$ carcinomas and have compared it to those observed in MMR-deficient and -proficient colorectal @PHENOTYPICFEATURE$.	false
+c49457b9a227ce2a428764f0b4f8fba60af11346	Concerning the measurement of @PHENOTYPICFEATURE$ extent, excellent and nearly excellent agreement was achieved only for E and PS @DISEASE$, respectively.	false
+b276e57997ab0baff58a15a5aa3d91ac2d136d5f	The distribution of MRI-invisible @PHENOTYPICFEATURE$ was consistent with the asymmetry of @DISEASE$ tumors.	false
+8804cd9f34583e353f37dc63732c6670af828837	The distribution of MRI-invisible tumors was consistent with the asymmetry of @DISEASE$ @PHENOTYPICFEATURE$.	false
+b0f6f2874af7b14876a21bfd5566660e668365d1	The spectrum of somatic mutations in @DISEASE$ @PHENOTYPICFEATURE$ reflects both selection and hypermutation to which certain guanine residues are particularly prone.	false
+fe31ebb941b2c9f30fc0c8117ed0cd36c190d665	These will likely continue to evolve as the @DISEASE$ @PHENOTYPICFEATURE$ spectrum is better understood as a result of future case reports and research.	false
+c9db22c7e9e136921353d62879bb0ad7054ddb13	@DISEASE$ @PHENOTYPICFEATURE$ appear to follow a distinct genetic pathway, with some features of both the CIN and MSI pathways.	false
+becdeba1aa83c5d7666d4104a6f9d0bf6b1029d9	Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: @PHENOTYPICFEATURE$, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype-phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and @DISEASE$22q11 syndrome.	false
+fcc02fa30189381c295986af0bcb134747810950	@DISEASE$ with retinitis pigmentosa (PCARP) is an autosomal recessive disorder characterized by severe sensory ataxia, @PHENOTYPICFEATURE$ and atrophy, and progressive pigmentary retinopathy.	false
+cdebc6af3b5aeb791fa99ac5065e18238d26e0dc	@DISEASE$ is a paraneoplastic neuromuscular disorder in which an immune response directed against a small-cell @PHENOTYPICFEATURE$ crossreacts with antigens in the neuromuscular junction.	false
+a6920f1d89223a82e8d824df5a24be24d9067d93	The @DISEASE$ (LEMS) is typically recognized as a paraneoplastic syndrome associated with a small cell lung carcinoma (SCLC), whereas LEMS with other neuroendocrine @PHENOTYPICFEATURE$, including carcinoids or large cell lung carcinoma, are highly unusual.	false
+ae29765ca21cfa8ea053ca37f9520faaefd16b25	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and @DISEASE$.	false
+d26ebb5dae7ce1fb7474e73900d8f75c19b242e8	Among the systemic diseases responsible for OH are diabetes, alcoholism and chronic liver diseases of other causes, porphyria, lead poisoning, Biermer's disease, amyloidosis, several connective tissue diseases, including @PHENOTYPICFEATURE$, and some cancers associated or not with @DISEASE$.	false
+22c22ca411cca675d087eddfdf1adf7aba15f3c1	The main factors which contributed to poor prognosis were superior vena cava (SVC) syndrome, massive pleural effusion, tracheal stenosis due to lymph node swelling, pericardial effusion and pulmonary fibrosis (causing dyspnea in combination), brain metastasis resulting in neurological disturbance, cachexia, @DISEASE$ causing muscle weakness, retroperitoneal lymph node metastasis causing @PHENOTYPICFEATURE$, peritoneal effusion due to abdominal lymph node swelling, vertebral metastasis causing paraplegia, and dermatomyositis/polymyositis (DM/PM) causing muscle weakness.	false
+02ddbeb2a9ec3e736df5e12875357eadf1cecca3	Alteration of Ca channels cause muscle dysfunction periodic paralysis with or without potassium changes, myasthenia or myasthenic disorders, like @DISEASE$, amyotrophic lateral sclerosis, Central Core disease, @PHENOTYPICFEATURE$.	false
+ee3039beb84aabba197d75d8cb9eef6b87f6f46d	In the majority of @DISEASE$ patients, those having detectable tumor, the disease is thought to occur as a result of immune response directed initially against voltage-gated Ca2+ channels found on the @PHENOTYPICFEATURE$ cells.	false
+97e78e45d761dcab201bade57e4c2866f8dff9c9	The underlying causes were: primary lung cancer (6 cases), metastatic cardiac tumors (3 cases), tuberculosis (4 cases), complicated interventional procedures with cardiac chamber or vessel perforations (2 cases), dissecting aortic aneurysm (1 case), systemic lupus @PHENOTYPICFEATURE$ (1 case), idiopathic pericarditis (1 case), bacterial pericarditis (1 case), and @DISEASE$ heart disease (1 case).	false
+820643e332cf279236fed0cdd59bc424372d3b55	Clinical, cytogenetic and molecular characterization of a patient with combined @DISEASE$ and incomplete WAGR syndrome with @PHENOTYPICFEATURE$.	false
+5bdad417a797cfa31efbb773b3a62b3903a692d6	@DISEASE$ is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of @PHENOTYPICFEATURE$ and patches of de-pigmented skin, hair, and irides.	false
+d1336983138e45ff08452efbcd1cec7f056ab046	A mother and her son with albinism and @PHENOTYPICFEATURE$ compatible with @DISEASE$ (MIM 103500) are reported.	false
+e9d50f10ba380a64225290d9fc08769cf85d03e5	The presence of even a single @PHENOTYPICFEATURE$ in a child with @DISEASE$ is an indication for further follow up examinations.	false
+2ebe5987baec46950f0a7f0785514eba10f8603a	The most common abnormalities that were diagnosed during the first and/or second trimester and that were also observed at 35-37?weeks included ventricular septal defect, talipes, unilateral renal agenesis and/or pelvic kidney, hydronephrosis, duplex kidney, unilateral multicystic kidney, @DISEASE$, ventriculomegaly, cleft lip and palate, @PHENOTYPICFEATURE$ and abdominal cyst or gastroschisis.	false
+ed408b0cedd1c9d2ab8ca6ba8f30489010706afb	The very firm conclusion has been reached that, taking into account efficiency, complication rate and cost of treatment, at this stage, women with @PHENOTYPICFEATURE$ or polycystic ovary syndrome should be offered accepted methods of ovulation induction and that couples with 'unexplained' or 'multifactorial subfertility' should still be exposed to COH with @DISEASE$ and only after the failure of these therapies, be offered IVF.	false
+4f331651f4c081cc73268a24d24b58d37a9db223	The ocular conditions related to vasoproliferative @PHENOTYPICFEATURE$ in children include @DISEASE$, retinitis pigmentosa, ocular toxocariasis, Coats disease, neurofibromatosis, retinal toxoplasmosis, retinopathy of prematurity, familial exudative vitreoretinopathy, and other rare conditions.	false
+09942dff53ef6010f36b79ac2ba1f1fb6e01bce8	ARG1-deficient patients exhibit @DISEASE$ with spastic paraparesis, progressive neurological and @PHENOTYPICFEATURE$, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders.	false
+336ed785cb688f7435833d1fc6da3fdc8be72d15	Deficiency of liver arginase (AI) causes @DISEASE$ (OMIM 207800), a disorder characterized by progressive @PHENOTYPICFEATURE$, growth retardation, and spasticity and punctuated by sometimes fatal episodes of hyperammonemia.	false
+30516d9dbcd283053dbe7209027976d7e6522e4b	Patients generally develop @DISEASE$, spastic paraparesis, progressive neurological and @PHENOTYPICFEATURE$, and persistent growth retardation.	false
+d659cff32b70ff0db94758a58a697ebc9799c82a	Deficiency of liver arginase (AI) is characterized clinically by @DISEASE$, progressive @PHENOTYPICFEATURE$, growth retardation, spasticity, and periodic episodes of hyperammonemia.	false
+605c5ab857623c273c367e05dc18dd3ea84a8c4a	The diagnosis results were glioma in 15 cases, cerebral vascular diseases (aneurysm, arteriovenous malformation, and cavemous angioma) in 8 cases, meningioma in 7 cases, arachnoid cyst in 7 cases, acoustic neurinoma in 5 cases, @PHENOTYPICFEATURE$ in 3 cases, primary trigeminal neuralgia in 5 cases, cerebral abscess in 3 cases, hypophysoma in 2 cases, craniopharyngioma in 2 cases, metastatic tumor in 2 cases, radiation encephalopathy in 2 cases, medulloblastoma in 1 case, ependymocytoma in 1 case, germinoma in 1 case, atypical teratoma/@DISEASE$ in 1 case, facial spasm in 1 case, and subdural hematoma in 1 case.	false
+59c0c2409ab5d5952cf8e35a290f8e33a26db0f4	An adult @DISEASE$ is unusual, and its association with @PHENOTYPICFEATURE$ and the coexistence of an M-component of IgA in this case appears to be unique.	false
+2dbe2b3e19c4c1f82c0517fc764016c0d0fbc2d0	A case of @DISEASE$ (MRT) arising from the soft tissue of the right thigh in a 49-year-old Chinese female with @PHENOTYPICFEATURE$ is reported.	false
+c2ec7def2ad1ce53df80346efe87b00e8abff86c	Aneurysm involving a CMT is an even @DISEASE$ @PHENOTYPICFEATURE$, and, to our knowledge, only eight cases of CMT aneurysm have been reported in literature.	false
+15a8c0efeb0a70e680a3e8eb9983cdfe51d9c84c	Congenital shortness of extensor tendons: a very @DISEASE$ @PHENOTYPICFEATURE$.	false
+b429a2062a5f1ac36441646ee2b78c853908cd16	@PHENOTYPICFEATURE$ is a very @DISEASE$ bone tumor, especially in the mandible, that can be associated with metabolic diseases such as hyperlipidemia.	false
+ded10905c3d7edc5065f25daae2eb53a5d304816	More @DISEASE$ @PHENOTYPICFEATURE$ can be found in AD-CPEO, AR-CPEO, MNGIE, DIDMOAD, CoQ-deficiency, ADOAD, DCMA, or PDC-deficiency.	false
+2648661302af37b9f466ad4a3ecdf8d1afdc2ee1	Lesch-Nyhan syndrome is a very @DISEASE$ X-linked recessive disorder characterized by mental retardation, @PHENOTYPICFEATURE$ resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia.	false
+ab60361aff54b2b75d6a95cc907acac18502e9c7	Lesch-Nyhan syndrome is a very @DISEASE$ X-linked recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity resembling cerebral palsy, choreo-athetosis, self-mutilation and hyperuricemia.	false
+4d0f3f406252af07bfcf0cc2dd537b66d3164a36	They are mainly in the form of @PHENOTYPICFEATURE$, retinopathy and @DISEASE$ polyneuropathy.	false
+1953ab573d5034665b7b321dd34b998623659532	@PHENOTYPICFEATURE$ of bone is a @DISEASE$ bone disorder characterized as a lytic lesion, often with cortical expansion or disruption.	false
+eaa7cedfe61242f05f1806d7cb44380ac392f18c	Alopecia with @PHENOTYPICFEATURE$ (APMR) is a very @DISEASE$ disorder.	false
+3b98c3e6fa3c8b20e139ebe6b623fb109583361a	Clinical features are presented of this "benign" cerebellar @PHENOTYPICFEATURE$, which occurs preferably in association with viral infections, neuroblastomas or @DISEASE$ carcinomas.	false
+5ce93cbbdebf9720e5aec0c7035b3af79b5d0840	In Von Recklinghausen disease, patients @DISEASE$ demonstrate @PHENOTYPICFEATURE$, but several reports have noted massive bleeding from vascular rupture.	false
+0e905dfa707c407ea6a93f3dd8fc8a8a7ee30eca	To characterize and distinguish the types of @PHENOTYPICFEATURE$ (SNHI) that occur in hereditary motor and sensory neuropathy Type 1a (HMSN-1a) and @DISEASE$ (HNPP), which are caused by deletion or frameshift mutation.	false
+dc6e2289aea107d9f580830cc280e503bb28d82d	Three patients with @DISEASE$ had a mild @PHENOTYPICFEATURE$ on examination, controls were clinically normal.	false
+65ff3127d827b54791ffe2dbc01f6b8970509c1c	@DISEASE$ is characterized by severe symptomatic excessive erythrocytosis (EE; Hb ?19?g/dL for women and Hb ?21?g/dL for men) and accentuated hypoxemia, which are frequently associated with pulmonary @PHENOTYPICFEATURE$.	false
+7705791d2a837cf7971644b54f7f41dd356c4cfd	Excessive erythrocytosis, caused by a lower oxygen saturation and hypoxic ventilatory response and/or ventilatory inefficiency, is the outstanding sign of @DISEASE$, and right ventricular enlargement, pulmonary @PHENOTYPICFEATURE$, and remodeling of pulmonary arterioles are hallmarks of HAPH.	false
+cbb17969dbd2b7b9079c3e411e2a71cde251eba3	Tourette syndrome (TS) and primary complex motor stereotypies (@DISEASE$) are two relatively common, distinctly different @PHENOTYPICFEATURE$ of childhood.	false
+c17df670db1dd24e0815fe43ebadc956c54ef725	Plexiform neurofibromatosis is a autosomal dominant disease characterized by multiple cafe aulait spots, cutaneous neurofibromatosis, @DISEASE$ tumours and @PHENOTYPICFEATURE$.	false
+2ba4f60f59946d4643ebfc80958a64b194ffcf62	Brain abnormalities are striking, but despite these brain malformations, individuals with @DISEASE$ do not present significant @PHENOTYPICFEATURE$.	false
+80bc96ca01be4975923041dcf8a36dcd09c5ebad	Despite these striking brain malformations, individuals with @DISEASE$ generally do not present with significant @PHENOTYPICFEATURE$, except for hearing loss.	false
+94b41504e9c53a74f4044bb2f8632dd20382c45e	Individuals with chronic mountain sickness (@DISEASE$) show severe hypoxemia, excessive polycythemia, and marked pulmonary @PHENOTYPICFEATURE$.	false
+4c7bf1a88e1a9c9b94d2b45f7da5f9fdbe335adb	Apart from well recognised symptoms and signs of @DISEASE$, the study has shown that such patients may also exhibit a mild @PHENOTYPICFEATURE$.	false
+92e6c557e3a3e159920b2a56d41b8706ca97f374	The clinical phenotype ranges from the classical presentation of a @DISEASE$ in one patient (p.Pro210Leu), to severe @PHENOTYPICFEATURE$ with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to a more severe spectrum with infantile lethality (p.Val112Glu).	false
+41bcbc016e7f7daf304bd0d21f834b66c076160d	@DISEASE$ associated with @PHENOTYPICFEATURE$ and electrical myotonia.	false
+bfe893808e6db62352ad8e2b435cead8cb63cd96	Surgery for @PHENOTYPICFEATURE$ in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and @DISEASE$).	false
+991d49f2261ae86c1dea715a170d89707219958c	A case of @DISEASE$ is described which is unusual because of bilateral @PHENOTYPICFEATURE$ and prominent myotonic-like discharges on the EMG.	false
+f2e740b553949c915ab81cfa81d61555d2c47e5a	@DISEASE$, @PHENOTYPICFEATURE$, and electrical myotonia: a new case.	false
+2a668aac648097723a313fecab358b2961c8fbc9	@DISEASE$ (ACS) is a craniofacial malformation syndrome characterized by external @PHENOTYPICFEATURE$, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia.	false
+ab218a2429333933644bee04ac400a29eef3a7e9	@PHENOTYPICFEATURE$ were reported in 54/2322 (2.3%) of the NF1 patients, only 4 of whom had @DISEASE$ or NF1-Noonan syndrome.	false
+ce2d1956f866291e14f92ab51764ecf6dd594809	A novel mitochondrial MTND5 frameshift mutation causing @DISEASE$, @PHENOTYPICFEATURE$ and myopathy.	false
+71dc8db4700905c5df1ca4fdd7afecf635086574	These findings and other similarities between @DISEASE$ and diabetic @PHENOTYPICFEATURE$ suggest that a neuropathic process may be an underlying source of BMS in some patients who have no apparent oral abnormality.	false
+589342a48ab43c80b710d1c0004743de5cbece87	These findings and other similarities between BMS and diabetic @PHENOTYPICFEATURE$ suggest that a neuropathic process may be an underlying source of @DISEASE$ in some patients who have no apparent oral abnormality.	false
+9c6e0a50e6381a7472907e9ad2aebf335e1d3447	The CCI gives rise to a painful @PHENOTYPICFEATURE$ that is characterized by allodynia, hyperalgesia, and, probably, spontaneous pain (@DISEASE$).	false
+9943fa7ad174c5de168be1614765763c258c84f3	Furthermore, @DISEASE$ may be related to a more generalized, yet subclinical @PHENOTYPICFEATURE$.	false
+0374acea922271249634b5c275c3e2fd6fcc7eb0	Multivariate analyses of the 12 T1DM subjects with @DISEASE$ found significant associations for female gender (P=.042) and a diagnosis of diabetic @PHENOTYPICFEATURE$ (P=.024).	false
+e2696e4aafde9920cae5f5089b06e07b45556da7	In the remaining cases, new interesting associations have recently emerged between @DISEASE$ and either @PHENOTYPICFEATURE$ or dopaminergic system disorders, emphasizing the neuropathic background in BMS.	false
+31ed246632df40408447526a2c489422e0511159	In the remaining cases, new interesting associations have recently emerged between BMS and either @PHENOTYPICFEATURE$ or dopaminergic system disorders, emphasizing the neuropathic background in @DISEASE$.	false
+1d2c82c37b5cbfc54efd41adf9fc8dc7fd37deae	The demonstrated safety of meningococcal @DISEASE$ in humans and the data in mice presented here suggest that proteosome vaccines have potential for augmenting the immunogenicity of amphipathic @PHENOTYPICFEATURE$ antigens in humans.	false
+ab774830b943d0dc4374d9880b28fed6ba2a52f9	@DISEASE$ @PHENOTYPICFEATURE$ volumes were statistically smaller than tumor volumes as defined by FLAIR (Paired t test, P = 0.0084), averaging a difference of approximately 14 mL or 24 %.	false
+1c356b9008154551dfb2f296678c3bf3b03ca4e9	@DISEASE$ tumor volumes were statistically smaller than @PHENOTYPICFEATURE$ volumes as defined by FLAIR (Paired t test, P = 0.0084), averaging a difference of approximately 14 mL or 24 %.	false
+eccfbb6ca79047148bdc538b4591011bfd13c638	Antitumor response was demonstrated by elevation of blood glucose, reduction in plasma and @PHENOTYPICFEATURE$ IRI, and histopathologic changes in the @DISEASE$.	false
+8794649f2271da400d6e0cd31bb2d53688d0913c	The dissociation of tumor-induced weight loss from hypoglycemia in a transplantable pluripotent rat islet @PHENOTYPICFEATURE$ results in the segregation of stable alpha- and @DISEASE$ phenotypes.	false
+686d21d592cc180a2b51ecb3a2ecebf19635fab2	The dissociation of @PHENOTYPICFEATURE$-induced weight loss from hypoglycemia in a transplantable pluripotent rat islet tumor results in the segregation of stable alpha- and @DISEASE$ phenotypes.	false
+19486d2c6182e535b25ff434f4e4fa81b7e1f310	Here we show in a @DISEASE$ model that activation of Myc in vivo triggers rapid recruitment of mast cells to the @PHENOTYPICFEATURE$ site-a recruitment that is absolutely required for macroscopic tumor expansion.	false
+5985bf20c33d5154d397aafb9af9f65ec17efd14	Here we show in a @DISEASE$ model that activation of Myc in vivo triggers rapid recruitment of mast cells to the tumor site-a recruitment that is absolutely required for macroscopic @PHENOTYPICFEATURE$ expansion.	false
+e648ca0c38dcf8dd18d84934716c903a2149e05b	Tumor-associated hypoglycemia has been reported in dogs with @DISEASE$, hepatic @PHENOTYPICFEATURE$, and, rarely, with other neoplasms.	false
+2b4d0a7b2729d2a396bb02a5e7d529fb6a61b137	Tumor-associated hypoglycemia has been reported in dogs with @DISEASE$, hepatic tumors, and, rarely, with other @PHENOTYPICFEATURE$.	false
+7de11ed5ce3ce2c100a534ad53dc82ad35974f00	Defective glucose utilization in patients with functioning @DISEASE$ persists after @PHENOTYPICFEATURE$ excision.	false
+277c6b5cc022fad847ac119176bf7bffa943dc2e	A subtraction library was constructed from human insulinoma (@DISEASE$) and glucagonoma (alpha cell @PHENOTYPICFEATURE$) cDNA phagemid libraries.	false
+e6f68187c351217bf228e9e99d5f8690b3000948	In addition, treatment of established @DISEASE$ with a mast cell inhibitor rapidly triggers hypoxia and cell death of @PHENOTYPICFEATURE$ and endothelial cells.	false
+71fd6d447099285f04fc0c9df3af11f994af2074	Whereas the incidence of beta tumor cell apoptosis is unaffected, their proliferation rate is reduced in p53-deficient @DISEASE$ in vivo and in cell lines established from these @PHENOTYPICFEATURE$ in vitro.	false
+aabc1207ae7162f17fdb8c3bb20db754d9f05b43	Whereas the incidence of beta @PHENOTYPICFEATURE$ cell apoptosis is unaffected, their proliferation rate is reduced in p53-deficient @DISEASE$ in vivo and in cell lines established from these tumors in vitro.	false
+3b57047b40477d427d151e8dc52607b9836f957a	We demonstrate here that FGF-1 is constitutively exported by @PHENOTYPICFEATURE$ cell lines derived from highly angiogenic @DISEASE$ of transgenic mice.	false
+34af292b3c866e63b31f1651a5b2ecdeb0dada9b	In a minority of patients, the @PHENOTYPICFEATURE$ (hepatomas, fibromas, and fibrosarcomas are the most common among many) release into the circulation enough IGF-2-related peptides to mimic the fasting hypoglycemia characteristic of patients with @DISEASE$.	false
+e2e6db1f9d1627b674db34247a286ae9c2cedfb0	The majority of these patients were diagnosed with @DISEASE$, characterized by optic atrophy, ataxia and @PHENOTYPICFEATURE$.	false
+050e8c04bbc32dc20b7cd16ba8a355dc42b57110	@DISEASE$ is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, @PHENOTYPICFEATURE$ and mental retardation.	false
+db16d2a42113e573806f11497b116aa8d1e576b1	@DISEASE$ is a rare neurodegenerative lysosomal storage disorder that usually presents during the first year of life with @PHENOTYPICFEATURE$, delayed motor milestones and corneal opacities.	false
+f4af369c2b2feb83444d74498a8bc0c4af85698d	@PHENOTYPICFEATURE$ and disorders of pubertal development such as @DISEASE$ are common in Prader-Willi Syndrome (PWS).	false
+7fe5d551281a49411024e7f1d21bbe17b0970bd1	Primary, @PHENOTYPICFEATURE$ (HypoH) and compensated @DISEASE$ were observed in 7.56, 31.56 and 12.44 per cent males, respectively.	false
+42630caf3839fd649f6c339b20cce480d0c5370f	The subgroups studied included @PHENOTYPICFEATURE$, delayed puberty, idiopathic oligospermia, and primary @DISEASE$.	false
+ee50650d7bd2644b1c4792d2456fd988fa2e49d6	The patients were separated into three groups according to orthonasal olfaction: anosmic idiopathic @PHENOTYPICFEATURE$, hyposmic idiopathic hypogonadotrophic hypogonadism and normosmic idiopathic hypogonadotrophic @DISEASE$.	false
+a3fe5ce5a58ae2bf5004183118506a5db9d0b69a	The patients were separated into three groups according to orthonasal olfaction: anosmic idiopathic @PHENOTYPICFEATURE$, hyposmic idiopathic hypogonadotrophic @DISEASE$ and normosmic idiopathic hypogonadotrophic hypogonadism.	false
+143136e52e340108edc2751f11c12c439361dc93	cases of hypergonadotrophic @DISEASE$, 30 (47.6%) @PHENOTYPICFEATURE$, and 2 (3.2%) hyperprolactinemia.	false
+7eed77561ee6029231e75e85a3951854b379a14c	@DISEASE$ and @PHENOTYPICFEATURE$: An update.	false
+eb4149bd1a521049310d1bc715e6968025191973	There were 60 women with PCOS, 11 with @PHENOTYPICFEATURE$, 6 with eugonadotrophic @DISEASE$, and 12 with unexplained infertility.	false
+edba18b52c7bbad655ab5252fed5c6e41cf2dbe0	@PHENOTYPICFEATURE$ (HH) is a form of @DISEASE$ which also known as secondary or central hypogonadism.	false
+2499b4138da81c22842cb4dad4843828c94850b0	Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+57ce10ebbadf800b337830ca4cf52c9ea2cf9834	@PHENOTYPICFEATURE$ is a complex developmental disorder characterized by @DISEASE$.	false
+1f5fcd80e2b680a079de6647122f54d3f567dea7	The primary causes for requiring APD were acute tubular necrosis (n?=?36, 69.2%), inborn error of metabolism (n?=?10, 19.2%), @DISEASE$ (n?=?2, 3.9%), bilateral @PHENOTYPICFEATURE$ (n?=?2, 3.9%), renal agenesis (n?=?1, 1.9%), and obstructive uropathy (n?=?1, 1.9%).	false
+64cc4352ddb22faa69bb1fbf7110b86657001ccc	[Bicarbonate @DISEASE$ (proximal or type II renal tubular acidosis) as a cause of marked @PHENOTYPICFEATURE$, nephrolithiasis, osteoporotic rickets and delayed somatogenital and skeletal development].	false
+a37a597f09433f54ddc50a6230501e30f6b7c984	He also presented with hyperaminoaciduria, @DISEASE$, phosphaturia, @PHENOTYPICFEATURE$, hypokalemia, hypouricemia, and hyperchloremic metabolic acidosis, supporting a diagnosis of Fanconi syndrome.	false
+a49358fa0cbaf3892550a1b36e28f5034d99f0fc	We performed a systematic review of studies examining different types of treatment and their outcomes, including avascular necrosis (AVN), nonunion, @PHENOTYPICFEATURE$, premature physeal closure (@DISEASE$), and Ratliff's clinical criteria.	false
+dfdcd88cb783cb558fad5b51791d90f94bbca380	MYBPC3 dysfunctions have been proven to induce dilated cardiomyopathy, hypertrophic cardiomyopathy, and/or @PHENOTYPICFEATURE$; however, the genotype-phenotype correlation between MYBPC3 and @DISEASE$ (RCM) has not been established.	false
+452d0a8765daeb5f1b6770cca5c0dceb0725e706	Mutations in various genes encoding Z-line proteins have been associated with different cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, @DISEASE$, and @PHENOTYPICFEATURE$, and mutations even within the same gene can cause widely different pathologies.	false
+a925a5ecc15bbc289361ce007e73cc83f34c0693	Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, @DISEASE$, @PHENOTYPICFEATURE$ and arrhythmogenic right ventricular cardiomyopathy.	false
+d15ecfa756ebe665ca6e833abb26cecd1d390c92	Here we report the first pediatric case of @DISEASE$ secondary to a de novo @PHENOTYPICFEATURE$ in the cardiac myosin heavy chain gene MYH7.	false
+6029650333e9c5f38df843d74a36d91c7b4368ce	Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+66bdcf768806ac89179c630e6319bb70b4ae61ea	Additionally, he had arterial hypertension, diabetes, @PHENOTYPICFEATURE$, hyperuricemia, hyper-CK-emia, hepatopathy, atrial fibrillation, recurrent heart-failure, pulmonary hypertension, mitral insufficiency, and @DISEASE$.	false
+a4cd76e43446d5b92e36282151f3864c471b070f	Dilated cardiomyopathy made up 58.6 percent of cases, hypertrophic cardiomyopathy 25.5 percent, @DISEASE$ 2.5 percent, and @PHENOTYPICFEATURE$ 9.2 percent of cases.	false
+b812ede90a730bf1464b6468663d8d16efa4dd4e	@DISEASE$ in a patient presented with @PHENOTYPICFEATURE$, vomiting, and consciousness disorder.	false
+8a9535896592b855b9137c1c0be97f3bd0efbe43	This review summarizes the genetics, current guideline recommendations, and evidence supporting the genetic evaluation framework of five hereditary forms of cardiomyopathy: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), @DISEASE$ (RCM), and @PHENOTYPICFEATURE$ (LVNC).	false
+c08f289754c707e0d5119fdf6276eee8958f83d1	Several types of amyloid can infiltrate the heart resulting in a @DISEASE$, heart failure, and atrial and @PHENOTYPICFEATURE$.	false
+30d717bb691fada2aa9b703c66b4d80f4dad31d1	The reassessment of the phenotypic features confirmed that the patient fulfilled the proposed diagnostic criteria for @DISEASE$, although complicated by early-onset isolated @PHENOTYPICFEATURE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+344704a2b135400a0b8739f4cfe49d5569d4ae4e	The case for further research into the @PHENOTYPICFEATURE$ in @DISEASE$ is also strengthened by the findings.	false
+f77f01453c96728ef95f0565a29e5501193f7931	Severe progressive neurological disorder associated with @PHENOTYPICFEATURE$ in a man with @DISEASE$.	false
+f96f7351d35efa1833adb42bc00108aafb5512cf	Aortic hypoplasia and cardiac @PHENOTYPICFEATURE$ in a boy with @DISEASE$.	false
+a63df9b37b2d6c75494979961647e10cb1042f5d	Deletion of 8.5 Mb, including the FMR1 gene, in a male with the @DISEASE$ phenotype and @PHENOTYPICFEATURE$.	false
+3f8e62854020551e1c8d6c96cce4e89b8da4fa19	Diseases need to be differentiated from Sotos syndrome include @DISEASE$, arrested @PHENOTYPICFEATURE$, Canavan disease and Alexander's disease.	false
+f460f015c29431fec0a60bf443593dc0b25e3efb	From this study it appears that @PHENOTYPICFEATURE$ in @DISEASE$ develop in late childhood and adolescence.	false
+ae58469851b9a11079af9dcb79daa7f360cc193a	Prenatal screening for @PHENOTYPICFEATURE$, @DISEASE$ and recessive genetic disorders is underutilized and public health planners should considered a more widespread application of available methods.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+d913f31c0343cde788e61f938786622e5aa7b89b	Thirteen cases of PWP and @DISEASE$ are reported here that were identified by @PHENOTYPICFEATURE$ and hyperphagia.	false
+24e31b5da220eb96ffeced835fe52015e3a07af9	to establish how well postnatal ward neonatal @PHENOTYPICFEATURE$ guidelines facilitate breast feeding and adhere to UNICEF UK Baby Friendly Initiative (@DISEASE$) recommendations, and to compare compliance with different recommendations.	false
+a7c77f44e5c360c149eb2787f39b4eb24eed1c7b	The pathogenesis of eye disease in EVD survivors likely involves @DISEASE$ virus persistence, severe inflammation and tissue @PHENOTYPICFEATURE$, which present as acute, rapidly progressive disease or chronic, smoldering disease.	false
+ee23fbd91d2dfdb78330cde4b685c483c22a25e3	About 95% of individuals with @DISEASE$ have an affected parent and about 5% have a de novo @PHENOTYPICFEATURE$.	false
+9f970425a15e6cca44977cc8963ea6c394270fad	A 64-year-old Japanese man with renal dysfunction caused by @DISEASE$ (ADPKD) was admitted to our hospital for evaluation of right back pain, @PHENOTYPICFEATURE$, inflammation, and pleural effusion.	false
+3c74c347810c7043d75d8ca18117c43ffc608aef	A 64-year-old Japanese man with renal dysfunction caused by autosomal dominant polycystic kidney disease (@DISEASE$) was admitted to our hospital for evaluation of right back pain, @PHENOTYPICFEATURE$, inflammation, and pleural effusion.	false
+5c33e99b90909c044e908acd9cc763851d1dbc3c	To determine in patients with @DISEASE$ the relationship between total renal volume (the sum of both kidneys, TRV) as measured by magnetic resonance and renal function; and its behaviour according to sex and the presence of arterial hypertension, hypercholesterolaemia and @PHENOTYPICFEATURE$.	false
+bfbcf5473b8b0dcde1a0ec2ce45044abd86ea6f5	Three mutations in Chinese @DISEASE$ patients are described and all of them are de novo @PHENOTYPICFEATURE$.	false
+a9f94d8c59df532f56be7225069706dfb6fa0d83	The current study presents the case of a 67-year-old female HD patient with autosomal dominant polycystic kidney disease (@DISEASE$) and @PHENOTYPICFEATURE$ (RCC), manifesting polycythemia with elevated sEPO levels.	false
+93e8d499c9858b44115794890c3c89e2cf259f65	The current study presents the case of a 67-year-old female HD patient with @DISEASE$ (ADPKD) and @PHENOTYPICFEATURE$ (RCC), manifesting polycythemia with elevated sEPO levels.	false
+f5dd1541fdd634ceb4a21dc6f5f9a1d51eb45c4e	We report a case of adult polycystic kidney disease (@DISEASE$) with end stage renal disease and episodes of @PHENOTYPICFEATURE$ and cervical lymphadenopathy.	false
+77e39910f464596836dfc7d3d59287fd26c9f192	This case is unique in that we did not find any previously reported cases of TCC associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ef9a51fd583c84492aefa65ea66c354305632ae0	Erythropoietin production in @PHENOTYPICFEATURE$ and renal cysts in @DISEASE$ in a chronic dialysis patient with polycythemia: A case report.	false
+9d6c2ca2f39f11be0a9663c3891bfd70edeae344	@DISEASE$ knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, @PHENOTYPICFEATURE$ and hypercorticosteronaemia.	false
+5256cce706363f0ac0541f5bb4b2dba0ad01a04c	Therefore, the objective of this study was to screen a large mixed-breed canine population for the presence of mutant alleles associated with five autosomal recessive disorders: hyperuricosuria and @PHENOTYPICFEATURE$ (HUU), cystinuria (CYST), factor VII deficiency (FVIID), @DISEASE$ (MYC) and phosphofructokinase deficiency (PKFD).	false
+7b2b2855f7fb28d0cfc3fb90fb6b071e2c9e4602	Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant @DISEASE$ (Thomsen's disease) (MC) are characterized by skeletal @PHENOTYPICFEATURE$ that is a result of muscle membrane hyperexcitability.	false
+60d6418c9019a7bd7024d15539ee7bfeca0285e7	We hypothesized that in severe @DISEASE$ type Becker @PHENOTYPICFEATURE$, prolonged transient weakness and muscle hypertrophy might finally result in morphologic skeletal muscle alterations reflected by MRI signal changes.	false
+414a7f69e933966088b6ddad4e879c5aee32bada	@DISEASE$ (SoS) is characterized by overgrowth of prenatal onset, learning @PHENOTYPICFEATURE$, and characteristic facial appearance; it is usually due to haploinsufficiency of NSD1 gene at chromosome 5q35.	false
+d756bb713e9c2aa3ef41d573c7e6149cec840b48	Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of @DISEASE$ characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning @PHENOTYPICFEATURE$, and possible susceptibility to tumors.	false
+10b876fa1fb0e10a1ed027b2c3ddd97e3be90ccd	We conclude that microduplication of 19p13.2 is a novel genomic disorder characterized by variable neurocognitive @PHENOTYPICFEATURE$, overgrowth, and facial dysmorphism similar to @DISEASE$.	false
+9ac65ce825b6f3f2f656a8c489d516defaa8903f	NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of @DISEASE$, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning @PHENOTYPICFEATURE$, seizures, distinctive facial phenotype.	false
+ccc983056958b2c9e4c013d8c159226daaba2395	We reported here a 5-year-old girl with @DISEASE$ who developed acute shock @PHENOTYPICFEATURE$ syndrome (ASES), and differentiated ASES from Reye syndrome (RS).	false
+81cdd0f2bc2dc3b8f7ed9c1e61ea065dc8bd2895	@DISEASE$ (SS) is an overgrowth syndrome characterized by typical facial appearance, learning @PHENOTYPICFEATURE$, and macrocephaly as cardinal diagnostic features.	false
+f3557ce53d0ebf100d89bd4aa5cd27fb3ce1ced3	To examine language and behavior in children with @DISEASE$, an overgrowth syndrome involving advanced bone age, characteristic facies, and developmental @PHENOTYPICFEATURE$.	false
+035a51419842f91fd750c028461f2c6296b5e7b5	disease (@DISEASE$), i.e. weight loss, diarrhoea, hypogammaglobulinemia and @PHENOTYPICFEATURE$.	false
+339a9dadaef6e91befae70a4c132bff415f46387	@PHENOTYPICFEATURE$ may be one of the most severe forms of chronic graft-versus-host disease (@DISEASE$).	false
+3cba55a286f6fbc445baf8d1c8869afc07d31630	Mice in the @DISEASE$ group developed clinical and histological lesions of TA-GVHD, including pancytopenia, marked splenomegaly, wasting, engraftment with donor derived T cells, and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4763b067b805c33021fe1d89c795df69a7898620	@PHENOTYPICFEATURE$ among children with severe @DISEASE$.	false
+3c2c139ddd0cb267f683bb51d6f64e25567a02c0	Fifty-two consecutive patients with @DISEASE$ and @PHENOTYPICFEATURE$ were followed in a prospective 5-year study.	false
+c79078f6cb28ce0b0e29019619b14c50c181ed6b	@PHENOTYPICFEATURE$ and arrhythmias, caused by myocardial siderosis, are the most important life-limiting complications of iron overload in @DISEASE$ patients.	false
+13dd7ed4a3c64adbe1e590ac9ab270add52d20a6	Cardiac events, including @PHENOTYPICFEATURE$ and arrhythmias, are the leading cause of death in patients with @DISEASE$.	false
+7d77dc1000a5008242652b7993d56e4911e9229c	To evaluate the survival of patients with @DISEASE$ and @PHENOTYPICFEATURE$ who were treated with iron chelation therapy.	false
+92a2934c025da84ce1e27a99d596abcae73c8b18	In patients with iron overload associated with severe, transfusion-dependent @DISEASE$, @PHENOTYPICFEATURE$ develops during the second decade of life.	false
+a95d1b640430d093a0fafc065f3cf09efc8d2436	We describe a patient affected by intermedia @DISEASE$ who presented a severe @PHENOTYPICFEATURE$ when she was 27 years old.	false
+ac0826257e7dc2e23bf7be158c13d3bd2a63defb	The 5-year survival rate in patients with @DISEASE$ with @PHENOTYPICFEATURE$ was greater than previously reported.	false
+dc1993cd99d4a2251509ec5f76c929f3663a945a	Forty-five consecutive unrelated Greek patients with homozygous @DISEASE$ and left-sided @PHENOTYPICFEATURE$ were studied.	false
+cd64a72024d06e83b14d6ed1d3026228defe056c	Clinical examination and laboratory investigations excluded viral hepatitis, @DISEASE$, granulomatous disease, primary biliary disease, extrahepatic biliary obstruction, and @PHENOTYPICFEATURE$.	false
+fb509ae778d73b44dbab7ef1113fad0dc5d4ba6a	We report the clinical, biochemical, histopathological, and immunological findings, mainly @PHENOTYPICFEATURE$ profile, in addition to response to treatment, of Bahraini children with @DISEASE$.	false
+e77ec24c527e441deb782ffea848dd36c17cbe46	Main causes for fibrosis stage ? F2 were (non)-alcoholic steatohepatitis, chronic viral or @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d43cf1481fec198f3e21d66c28d7a9789999e0cc	So far, it remains elusive to which extent @PHENOTYPICFEATURE$ modulates immune responses during hepatotropic virus infections as well as in @DISEASE$.	false
+bcdef287e8267e6f71861d99c69ab6d89fc51649	Aire deficiency in humans and mice manifests as spontaneous @PHENOTYPICFEATURE$ against multiple organs, and 20% of patients develop an @DISEASE$ (AIH).	false
+7629e96c049489c48af32293ed748653eb863b3a	Other causes of cholestasis, including @PHENOTYPICFEATURE$, @DISEASE$, and viral infection, were excluded.	false
+cd64a72024d06e83b14d6ed1d3026228defe056c	Clinical examination and laboratory investigations excluded viral hepatitis, @DISEASE$, granulomatous disease, primary biliary disease, extrahepatic biliary obstruction, and @PHENOTYPICFEATURE$.	false
+5a01357be63198b9b235276b7c1d4d0bdb21d839	Other causes of liver failure, such as viral hepatitis, @DISEASE$, toxins, and @PHENOTYPICFEATURE$, were excluded by appropriate diagnostic means.	false
+c82773b09c4d4a66bb6596d26226c0ae2da4d046	Patients with decompensated cirrhosis, severe depressive illness, @DISEASE$, hyperthyroidism, pregnancy, @PHENOTYPICFEATURE$, uncontrolled diabetes, obstructive pulmonary disease, children less than three years and patients who had previously received treatment were excluded.	false
+f758bf0ce1b63c3f3b81d61f76e7ad96242d0953	Outcome of @DISEASE$ was good with corticosteroids and azathioprine but two months later, the patient died from a refractory global @PHENOTYPICFEATURE$.	false
+e770c9fa19a9e7807dcdbf556d240949a36530c6	@DISEASE$ is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, @PHENOTYPICFEATURE$, and mild facial dysmorphism.	false
+233bae894a01a007861c7499cc1673c921b602a8	In both the @DISEASE$ and the less severe proximal symphalangism @PHENOTYPICFEATURE$ syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.	false
+9bec424460e83fa46f0da48242539ba01ccef03b	Recent studies demonstrate that SHP2-deficiency leads to skeletal abnormalities including scoliosis and cartilaginous benign @PHENOTYPICFEATURE$ @DISEASE$, suggesting that growth plate cartilage is a key tissue regulated by SHP2.	false
+f2800b2e0a40abd4ec3f74b1f63453cc3d4b800d	@DISEASE$ is an inherited @PHENOTYPICFEATURE$ characterized by multiple cartilaginous exostoses, multiple enchondromas, and periarticular calcification or ossification.	false
+3a07a3a1192a269686367302f49dca70137f6feb	Associated systemic abnormalities were @PHENOTYPICFEATURE$, congenital rubella, cleft lip and palate, facial hemangioma, inguinal hernia, clinodactyly, Hurler syndrome, Goltz-Gorlin syndrome and @DISEASE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+850eb1988a6ddc983807549b42166ae4d2c7512e	@PHENOTYPICFEATURE$ in a patient with the @DISEASE$.	false
+7ab1883145837822932df33eb56cc57fffe164d6	Single cases each of anophthalmos, Beh?et's disease, @DISEASE$, @PHENOTYPICFEATURE$, macular degeneration and optic atrophy were recorded.	false
+da137af5b12add81a8c839a8b32cfc08453b2792	X linked @DISEASE$ (SEDL) is heritable osteochondrondysplasia characterized in affected males by @PHENOTYPICFEATURE$ with short neck and trunk resulting from a growth defect of the vertebral bodies, accompanied by barrel chest and degenerative osteoarthropathy of hip joints.	false
+9605328d43ad8a2f119e30c7450124127ce29a16	@DISEASE$ is an inherited skeletal dysplasia involving the spine and epiphyses of long bones with onset in childhood, giving rise to @PHENOTYPICFEATURE$ and degenerative spine and hip disease.	false
+967a2137362c11474fb6aaaab339f305b944696e	X-linked @DISEASE$ (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by @PHENOTYPICFEATURE$ with a short trunk, barrel chest and absence of systemic complications.	false
+b216616a096616d4a21a5cfd5ae7e7f328cd293e	@DISEASE$ (SEDT) is an X-linked recessive disorder, characterized by @PHENOTYPICFEATURE$ and degenerative joint disease, which manifests in the early teens.	false
+c0bd4accc827139a6c2283a4ad26dcaa59b682ba	@DISEASE$ (SEDT), an X-linked recessive skeletal disorder, presents with @PHENOTYPICFEATURE$ and "barrel-chest" deformity in affected (hemizygous) adolescent boys.	false
+d658774cbc87d7f0b3c88549274797fa8c9036f5	@DISEASE$ (SEDT) is an X-linked recessive osteochondrodysplasia characterized by @PHENOTYPICFEATURE$ and degenerative joint disease.	false
+bd2cbc7514f3b76e54a3a4843860b7d6fba5edb8	Neurological examination revealed bilateral @PHENOTYPICFEATURE$ cavus, spasticity in all extremities with general @DISEASE$ and pathological reflexes.	false
+931ed682db57dd4eb3b835dba92bf3b9b34f3271	The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, @PHENOTYPICFEATURE$, parkinsonism, @DISEASE$, orthostatic hypotension, central hypoventilation, and mild dementia.	false
+be6cbe951498b3144e13263d0d4fac27f57b431f	Clinically the phenotype is very variable but lower limb hypertonicity and @DISEASE$ are early and prominent generally preceded by @PHENOTYPICFEATURE$, an impaired vertical downward saccade and a typical involuntary head jerk.	false
+95a6b83bfd5a20a13fcdfc9a8043f37b627ca1a4	Neurologic examination revealed normo- to @DISEASE$ and absence of deep @PHENOTYPICFEATURE$ sensation in the hind limbs and thoracolumbar spinal hyperesthesia.	false
+3fcd94641c6c80bd17a07aa4a616ac0ed50d3cdf	Problems during pregnancy included autonomic @DISEASE$, decubitus ulcers, urinary tract infections, water retention, bladder and bowel problems, @PHENOTYPICFEATURE$, spotting, fatigue, cardiac irregularity and toxemia.	false
+8c10f3a047de898172b43b175ee1ccadbceb70cf	Over the first year of life she was noted to have progressive global developmental delay, @PHENOTYPICFEATURE$, microcephaly, hypertonia, @DISEASE$, and seizures.	false
+c2faf350003d85d5651da4e869380a63b877097a	Complications of pregnant patients with medullary injury include urinary infection, renal stones, @PHENOTYPICFEATURE$, decubitus ulcers, muscle spasms, sepsis, uterine hyperactivity and autonomic @DISEASE$.	false
+60c99a15f63c36c93c6f80b37f92438931903115	Neurological examination revealed dementia, @PHENOTYPICFEATURE$, dysarthria, spastic paraparesis with @DISEASE$, bilateral Babinski signs, cerebellar ataxia and dysuria.	false
+70ea4d92e72358caba27d5bd656dbfbcf5784858	A patient with Fuch's corneal dystrophy, @PHENOTYPICFEATURE$, diabetes, cardiac conduction defects, ataxia, and @DISEASE$ is described.	false
+09590482ad4fab3b88a7e12ff395b55a7caf97d5	However, other common SCA28 features like pyramidal tract signs (lower limb @DISEASE$, positive Babinski sign), ophthalmoparesis or @PHENOTYPICFEATURE$ were absent.	false
+d4db47a280b57e3cf44e1eaef931f703b1961bcb	@DISEASE$ caused by intraventricular @PHENOTYPICFEATURE$.	false
+73f9215fb305b09ada4521ad1663d73487b08e47	Although the old neurological literature recognized @PHENOTYPICFEATURE$ as well as neurocysticercosis as causes of the @DISEASE$, during the last 60 years only intraventricular neurocysticercosis was reported to cause this symptom-complex.	false
+c870295967ec7236753e0b3af5ef951c18c97bc8	Intraventricular @PHENOTYPICFEATURE$ have been associated with @DISEASE$; however, few cases of intraventricular neurocysticercosis have been reported to present with Bruns syndrome.	false
+2d29875f5399ee9febebf7ca28144e5060409c6d	Intraventricular @PHENOTYPICFEATURE$ have been associated with Bruns syndrome; however, few cases of intraventricular neurocysticercosis have been reported to present with @DISEASE$.	false
+73f9215fb305b09ada4521ad1663d73487b08e47	Although the old neurological literature recognized @PHENOTYPICFEATURE$ as well as neurocysticercosis as causes of the @DISEASE$, during the last 60 years only intraventricular neurocysticercosis was reported to cause this symptom-complex.	false
+d4db47a280b57e3cf44e1eaef931f703b1961bcb	@DISEASE$ caused by intraventricular @PHENOTYPICFEATURE$.	false
+ecb30ac7cfd4205d3ece190a678205c8162a0d1c	Mucopolysaccharidosis VI, also called as @DISEASE$, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, @PHENOTYPICFEATURE$, and central nervous system deterioration.	false
+6566cd03df7ca3f06c243d6febf47321f99e7bc1	General characteristics of the @DISEASE$, such as a large head, a short neck, @PHENOTYPICFEATURE$, an open mouth with macroglossia, enlargement of the skull and a long anteroposterior dimension, were observed.	false
+eda36992402d23c924fc9f1f061daf822f238842	@DISEASE$ (mucopolysaccharidosis type VI, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, @PHENOTYPICFEATURE$ and stiff joints.	false
+623ae8fa2be28e6d89d1786c066cb38160b85aa6	Maroteaux-Lamy syndrome (@DISEASE$, MPS VI) is a rare progressive metabolic disorder characterized by coarse facial features, hepatosplenomegaly, restrictive pulmonary function, @PHENOTYPICFEATURE$ and stiff joints.	false
+2d9e34182e80d6c90e5fe5816e5dec3f2a8fafb8	@DISEASE$ presenting in infancy with endocardial fibroelastosis and @PHENOTYPICFEATURE$.	false
+9e7050b38cdfba1c02e0e5eae2c5a1b9005ff696	Mucopolysaccharidosis type VI or @DISEASE$ is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, @PHENOTYPICFEATURE$, and facial dysmorphism, with intelligence usually normal.	false
+1658cc1e54baad376aacb624d896871d4a409ef1	@DISEASE$ or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, @PHENOTYPICFEATURE$, and facial dysmorphism, with intelligence usually normal.	false
+4fe2af2bc37b0324bef72a095bfaef9877b90a52	We report on a child with @DISEASE$ whose cardiac condition deteriorated and eventually led to @PHENOTYPICFEATURE$ at the age of 7 years due to severe mitral regurgitation.	false
+8a1b6d79972b240fae147e955ba16aab74a0fc1f	A case of @DISEASE$ characterized by intrauterine growth retardation, ocular and @PHENOTYPICFEATURE$, but no cutaneous lesions is reported.	false
+cab2475895a89f0905b204dc6f53b76d25c9bc6b	We report a case of @PHENOTYPICFEATURE$ which turned out to be paraneoplastic cerebellar degeneration, a subtype of PND that develops cerebellar symptoms, that was caused by @DISEASE$.	false
+8607ad8cb54405c667d8ecc48a7a99cc97991f2d	@DISEASE$ (RTD) is a recently recognized congenital disorder of renal tubular development associated with oligohydramnios, Potter phenotype, and neonatal respiratory and @PHENOTYPICFEATURE$.	false
+0dcda94f9d4cfcb9e0666b5867d0d19ff6e07238	Thirty-two (34%) infants had bilateral renal agenesis, 30 (34%) had bilateral cystic dysplasia, eight (9%) had unilateral agenesis with unilateral cystic dysplasia, four (4%) had renal histology characteristic of a recessively inherited disorder (two cases of @DISEASE$ and two cases of autosomal recessive (infantile) polycystic disease), nine (10%) had minor @PHENOTYPICFEATURE$, and three (3%) had morphologically normal renal tracts.	false
+762447ed36ab49f0535b8ddbd8a74af3bf049a17	@DISEASE$ (RTD) is a disorder characterized by neonatal @PHENOTYPICFEATURE$ and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death.	false
+415650e4b97af49c6c3073a232fc19eea512daf7	The TrkC antibody also significantly and specifically reduced @PHENOTYPICFEATURE$ in a mouse model of acute @DISEASE$.	false
+034e33e0c00ef38f96cf5a04665326b6c5bff825	We conclude that pulmonary artery should be thoroughly examined for thrombi in @DISEASE$ patients who present with signs and symptoms of right @PHENOTYPICFEATURE$.	false
+d55e00d4a5303a95598338ff25ed737f06d10419	In this study we evaluated the incidence and severity of obstructive sleep apnea and @PHENOTYPICFEATURE$ syndrome in patients with @DISEASE$ for reduction of crisis.	false
+d513cd6a8589c6f3632c118533b51475b4ae66c8	Congenital anomalies associated with @DISEASE$ syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe @PHENOTYPICFEATURE$, congenital heart disease, and cleft lip and/or palate.	false
+67c21bc243663103e8a94ead35f44f2b50ba32c8	Our results indicate that @DISEASE$ patients experience @PHENOTYPICFEATURE$, lower endurance performance, and decreased QoL compared to a healthy reference population.	false
+a7987d0a8c4f16100636e27ef37880d9614f2d92	Renal failure in patients with @DISEASE$ may be multifactorial: related to the patients and their comorbidities, direct @PHENOTYPICFEATURE$ compression or the toxicity of cancer treatments and other associated medications.	false
+ad6308b9253ad5f38008c8b45fd18ebae0bec4f4	@PHENOTYPICFEATURE$ in patients with @DISEASE$ may be multifactorial: related to the patients and their comorbidities, direct tumor compression or the toxicity of cancer treatments and other associated medications.	false
+db16fd6fb319fd77363f9fc899caa849a7e4e6cc	This represents the first reported case of capsular @PHENOTYPICFEATURE$ from partial breast implant radiation following SBRT for @DISEASE$.	false
+e4e10e5630647e3e8ac7c0bdfbb33e7dc20077b6	[A case of @DISEASE$ with hypercalcemia and @PHENOTYPICFEATURE$ responsive to pamidronate].	false
+699838bda4a05f8e9f55e1cce95c9e32233c88ab	@PHENOTYPICFEATURE$ and death in a 60-year-old man with @DISEASE$.	false
+ca33e274ce9c99462ec82c2bf68a976d27faaee5	We report a 74-year-old man with a @DISEASE$, who developed right leg weakness, @PHENOTYPICFEATURE$, and multiple cranial nerve palsies.	false
+1a2a512126f489e103f94fef208c9e727f221e73	Capsular @PHENOTYPICFEATURE$ of subcutaneous breast implant following hypofractionated stereotactic body radiotherapy for early stage @DISEASE$.	false
+9243f6d6f17cb4636cff46bf49a7df29054cf124	Bone metastasis is a common occurrence in human malignancies, including breast, prostate, and @DISEASE$, and is associated with a high morbidity rate because of intractable @PHENOTYPICFEATURE$, pathological fractures, hypercalcemia, and nerve compression.	false
+cf74af3935670b9c564d1b80ccab3419fbbe52cc	@PHENOTYPICFEATURE$ was significantly more frequent in patients with @DISEASE$ than in controls (30.1% vs 8.8%, p < 0.0001).	false
+4652c6106024cd719acbd98e67c2c4e93f0cbe31	@PHENOTYPICFEATURE$ and haematuria are frequently present in patients with @DISEASE$.	false
+a9407650278ae94580b93f36aaf7dd7444d57a3a	Children with inborn @DISEASE$ of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit @PHENOTYPICFEATURE$ and neurologic abnormalities.	false
+cf03dae508632eb956dbb58b953bc2cd8c7da7e4	Most inborn @DISEASE$ of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, @PHENOTYPICFEATURE$, comas, hypertonia, abnormal movements and frequent humoral disturbances (organic acidaemias, congenital urea cycle defects); (2) those which lead to a neurological distress 'energy deficiency' type.	false
+8bf0c580d101a43894f57ddcdee9b2c3a52a3bb6	@DISEASE$ (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other @PHENOTYPICFEATURE$, including hypodontia and unerupted teeth with large dental follicles.	false
+877e9d44259088673de25f7827f4df00394cb693	This article reviews current concepts in pathologic classification of lung cancer based on the 2004 World Health Organization classification of @PHENOTYPICFEATURE$ and the 2011 International Association for the Study of Lung Cancer (IASLC)/American Thoracic Society (ATS)/European Respiratory Society (@DISEASE$) classification of lung adenocarcinoma.	false
+339ae954a09f92fae2794c44355c3abe8d998873	Methylmalonic acidemia (MMA) is an inborn @DISEASE$ of organic acid metabolism that occurs in infancy with hypotonia, @PHENOTYPICFEATURE$, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia.	false
+33d20ba966e95b2457d805190f6f0aa5fcf4a271	Reported findings associated with @DISEASE$ include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper @PHENOTYPICFEATURE$, and neural tube defects.	false
+b2547cafd46bf562992b8adbcc295dca3ccd1aa4	@DISEASE$ is hypothesized to result from calcineurin-induced vascular changes that disturb bone perfusion and permeability, leading to intraosseous vasoconstriction and bone marrow @PHENOTYPICFEATURE$.	false
+ee9d40071375b18d392053643f53965208e2bf1e	Post-transplant distal limb bone marrow @PHENOTYPICFEATURE$ syndrome or calcineurin inhibitor-induced pain syndrome (@DISEASE$) is generally a self-limiting but debilitating acute pain syndrome that has been reported in 2-14?% of renal transplant recipients.	false
+1c71fd8111a450fab0cec5b6948abe282df37de0	Neuropathic @PHENOTYPICFEATURE$, seen in patients with @DISEASE$ in literature, is thought to be due to small fiber involvement.	false
+1300d57442f8965fac84a2cf3a031e9bc89a72b2	Manifestations of @DISEASE$ include progressive renal and cardiac insufficiency, neuropathic @PHENOTYPICFEATURE$, stroke and cerebral disease, skin and gastrointestinal symptoms.	false
+e694928a7f38b7f931c25d51132913267420a981	@DISEASE$ (FD) is an X-linked lipid storage disorder showing a high prevalence and early occurrence of @PHENOTYPICFEATURE$ neuropathy.	false
+25e63a97e8b2d1dc7670e245e5e38de0aa7f5259	Neuropathic @PHENOTYPICFEATURE$, hypohidrosis, and recurrent abdominal pain in childhood or adolescence should include @DISEASE$ in the differential diagnosis to facilitate earlier diagnosis and treatment of these patients.	false
+201cda352002867cafc0b772e621aee1e297514b	The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder @DISEASE$, with ventricular hypertrophy and neuropathic @PHENOTYPICFEATURE$.	false
+27f480f9bf5fd47b19c746250b7f7291e067786d	The genotype Y222X is associated with classic @DISEASE$, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic @PHENOTYPICFEATURE$.	false
+7d1279aa7d347a6e9ee1cd48bd746102af5ad766	Also, Fabry ko mice showed spontaneous @PHENOTYPICFEATURE$ protective behavior and developed orofacial dysmorphism resembling patients with @DISEASE$.	false
+1300d57442f8965fac84a2cf3a031e9bc89a72b2	Manifestations of @DISEASE$ include progressive renal and cardiac insufficiency, neuropathic @PHENOTYPICFEATURE$, stroke and cerebral disease, skin and gastrointestinal symptoms.	false
+66ece4a1f750f580626e2342387f3dd6db2f6d63	Is @DISEASE$ associated with @PHENOTYPICFEATURE$?	false
+089da3ea3d5432cac548f982b3ea07b784839c1b	@DISEASE$ is a progressive multiorgan, multisystem disorder that is caused by a deficiency in the lysosomal enzyme ?-galactosidase A. Serious renal, cardiac, and cerebrovascular involvement are responsible for much of the morbidity and premature mortality associated with Fabry disease, and neuropathic @PHENOTYPICFEATURE$, gastrointestinal problems, and hypohidrosis negatively affect quality of life of patients with Fabry disease.	false
+2a1b22703e4cec724cf3c890187a684cdff7bacd	Fabry disease is a progressive multiorgan, multisystem disorder that is caused by a deficiency in the lysosomal enzyme ?-galactosidase A. Serious renal, cardiac, and cerebrovascular involvement are responsible for much of the morbidity and premature mortality associated with @DISEASE$, and neuropathic @PHENOTYPICFEATURE$, gastrointestinal problems, and hypohidrosis negatively affect quality of life of patients with Fabry disease.	false
+7e449eaa551b2a3020dbcc1b14b19fe419cf8b63	Fabry disease is a progressive multiorgan, multisystem disorder that is caused by a deficiency in the lysosomal enzyme ?-galactosidase A. Serious renal, cardiac, and cerebrovascular involvement are responsible for much of the morbidity and premature mortality associated with Fabry disease, and neuropathic @PHENOTYPICFEATURE$, gastrointestinal problems, and hypohidrosis negatively affect quality of life of patients with @DISEASE$.	false
+ab9d1b044b82479e52624cf4f7746bc157811119	Manifestations of @DISEASE$ include progressive renal and cardiac insufficiency, neuropathic @PHENOTYPICFEATURE$, gastrointestinal symptoms, cerebral infarction and skin and pulmonary symptoms.	false
+d51138183ce957c11b831216d0e553263bb3ef7a	The animals showed spike, spike and wave complex, and secondary @PHENOTYPICFEATURE$ (@DISEASE$) with high frequency components on EEG within 1 hr after the gel application.	false
+d6f3cf994acbca829030a36d4fb0b5cb6255d407	Secondary end points were the length of hospital stay and the proportion of patients with secondarily @PHENOTYPICFEATURE$ (@DISEASE$) during video-EEG, postsurgical seizure outcome, and hospital cost.	false
+e11073088df98c0c97da15fa67c015fe6d081534	One is partial epilepsy with complex partial seizures (CPS) and the other one with secondarily @PHENOTYPICFEATURE$ (@DISEASE$).	false
+cb0522cbc841b9868fe8dcc08e8fdb86b9b0e818	To analyze occurrence of falls among patients with partial seizures, with/without secondarily @PHENOTYPICFEATURE$ (@DISEASE$), and primary generalized tonic-clonic seizures (PGTCS) in the perampanel phase III clinical studies.	false
+74133138d50fe4a9285a61807c54075f41db4413	We tested the hypothesis that secondary @PHENOTYPICFEATURE$ (@DISEASE$) are not truly generalized and may involve selective regions.	false
+6f469684b4616e03fbe5ef48f21fe3bff6853bef	BPEI was defined as epilepsies with complex partial seizures (CPS) or secondary @PHENOTYPICFEATURE$ (@DISEASE$), or both, compatible with the following characteristics: normal development before and after onset, no underlying disorders, normal interictal electroencephalograms (EEGs), and good response to treatment.	false
+eb09ddf4dff97a5a4ad9ae4983cbbbeded399501	AD-810 suppressed both interictal spikes and secondary @PHENOTYPICFEATURE$ (@DISEASE$), induced by cortical application of tungstic acid gel, in intact and decerebrated rats.	false
+5d79e46ea5ed6a0a31d514cfb14cc2a2e7309451	All of them had complex partial seizures (CPS), besides EDA, and half of them had secondarily @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f0ee5b771fdc89b3fefaa502fcef8c1d9a175e1e	We distributed patients in subgroups based on seizure type (focal seizures [FS], secondarily @PHENOTYPICFEATURE$ [@DISEASE$], primarily generalized seizures [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+14a32797f47be79896240bc93090fb1d8ca0ec46	We distributed patients in subgroups based on seizure type (focal seizures [FS], secondarily generalized seizures [@DISEASE$], @PHENOTYPICFEATURE$ [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+b115b4db499e75c5fdb97cd0fad10b5ad32697d7	MT-I/II levels did not correlate with any clinical variables, but MTLE patients with secondary @PHENOTYPICFEATURE$ (@DISEASE$) had less MT-I/II than MTLE patients without SGS.	false
+8ad4cb1b3fd6f53aa76a4db2f4764bdc99602c36	Multiplication of neurotropic @DISEASE$ virus in Ehrlich ascites @PHENOTYPICFEATURE$ cells.	false
+a6a0be299123346f69d71818575e1003bc3ca429	These include: bluetongue which may be responsible for porencephaly and hydranencephaly; Akabane disease, @DISEASE$ (mouse brain attenuated virus) and Wesselsbron disease (wild-type and mouse brain attenuated viruses) which can give rise to porencephaly, hydranencephaly, micrencephaly and @PHENOTYPICFEATURE$, and bovine viral diarrhoea-mucosal disease which results only in cerebellar hypoplasia.	false
+c2de262d6e1da7786c2d2e3846f174cd9a731b01	These include: bluetongue which may be responsible for porencephaly and hydranencephaly; Akabane disease, @DISEASE$ (mouse brain attenuated virus) and Wesselsbron disease (wild-type and mouse brain attenuated viruses) which can give rise to porencephaly, hydranencephaly, micrencephaly and cerebellar hypoplasia, and bovine viral diarrhoea-mucosal disease which results only in @PHENOTYPICFEATURE$.	false
+30c3b901f41d126178703f92ccf65fe58e949609	We conclude that @DISEASE$ is a neurodevelopmental disorder with consistent features of profound @PHENOTYPICFEATURE$, choreoathetosis, and deafness.	false
+cbe5a4019fac37203582f304f64e189660b3ff2e	A 20-year-old woman with @DISEASE$ (type I), presented with @PHENOTYPICFEATURE$ due to severe mitral regurgitation.	false
+a478dd0eaa2906c4751a48aaf90e69c7e3a1250f	We reviewed the frequency of @PHENOTYPICFEATURE$, in particular, cardiovascular malformations (CVMs), among 2322 patients with definite NF1 in the National @DISEASE$ Foundation International Database from 1991-98.	false
+e5cc60f93015031078d9124dee7203f18781635a	In spite of these shortcomings and often conflicting observations, it appears that especially younger children and children with @DISEASE$ (NF) are at risk of endocrinopathies in terms of @PHENOTYPICFEATURE$ and developmental abnormalities, as well as neurocognitive dysfunction expressed as problems in the psychosocial environment such as in education and occupation.	false
+efbd31d18c044c1f77eed63cd923bc302eac3934	Two patients with von Recklinghausen disease (@DISEASE$) were admitted to the hospital because of progressive @PHENOTYPICFEATURE$.	false
+614492673b74ccb68557c6524fff9d6108b65215	Two patients with @DISEASE$ (neurofibromatosis type 1) were admitted to the hospital because of progressive @PHENOTYPICFEATURE$.	false
+b6769a20025665bae78f23003b606d173f1a6509	Various forms of symptomatic and idiopathic epilepsy and other psychoneurological disorders (disorders of behavior and emotions, obsession-compulsion syndromes, stereotypias, aggression, compulsive ideas and movements, anorexia or hypothalamic @PHENOTYPICFEATURE$) coincident with one or more endocrine disorders such as precocious or delayed puberty, multihormonal pituitary deficiency, panhypopituitarism and secondary hypothyroidism were detected in 42 patients with suprasellar arachnoid cyst (7 patients), septo-optic dysplasia (8 patients), craniopharyngioma (15 patients), glioma of the optic chiasm in @DISEASE$ (NF-1) (12 patients).	false
+25732669fb690c3454e62c3bd5d6010b58d08901	@DISEASE$ type II (NF II) is rare and most commonly presents with hearing loss, @PHENOTYPICFEATURE$ and/or vestibular disturbance in the third decade of life.	false
+d47c8d86c3f4cd45522ffa1d92eee79f6a33fa93	The distinct cytoplasmic and nuclear upstream and downstream effectors of mTOR are involved in many cancers and human genetic diseases, such as tuberous sclerosis, Peutz-Jeghers syndrome, von Hippel-Lindau disease, @DISEASE$, polycystic kidney disease, Alzheimer's disease, cardiac hypertrophy, @PHENOTYPICFEATURE$ and diabetes.	false
+1f0976e5066d2072d4f5f03899c47d7f1339c24d	While @PHENOTYPICFEATURE$ and short stature are well-known features of patients with classical @DISEASE$ (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion.	false
+7901a57a1a7b4ee5e01fb6513e7c5ff3c32fa149	A 4-year-old boy had severe hypertension, @PHENOTYPICFEATURE$, and signs of @DISEASE$.	false
+b35c5aa197397a1a1d14d81789b271134e7c5014	To study prevalence of clinical features among Brazilian patients diagnosed with @DISEASE$(NF1), comparing these features with international data to evaluate the severity and visibility of the disease and quantify less frequent manifestations such as short stature, macrocephaly, muscle strength, @PHENOTYPICFEATURE$ and oral motor disorders.	false
+57129b023db0f8aa23882eeb34138bd2f9a3d1b4	Poor independent functioning by parental report at 18 months in children with @DISEASE$ was associated with childhood @PHENOTYPICFEATURE$.	false
+067d449546d5a4fe0a7ed3128d5f4994d4d9362d	There were @PHENOTYPICFEATURE$ in 25 patients with @DISEASE$.	false
+44d5f3b96c3f6f6a8265a48a3ab289a0fa5f7939	Fifty-two term infants who presented at birth with a neonatal @PHENOTYPICFEATURE$ consistent with @DISEASE$ and who had neonatal brain MRI were entered into the study.	false
+c1108b9f3bbe5b8c37ce459ae0b0da7d634dda7b	The patient was a 75-day old male infant with sequelae of severe @DISEASE$ who had highly delayed development of intelligence and movement and @PHENOTYPICFEATURE$.	false
+d244a48f5e98da9f58fa2b1a1e0bdcfd0b9b0381	In this small group of infants with neonatal @DISEASE$ and @PHENOTYPICFEATURE$, there was a trend for a reduction in seizure duration when clinical and subclinical seizures were treated.	false
+b74bcf12491f088db5ffce0d7b4ec81d93b06b78	In this small group of infants with neonatal @DISEASE$ and seizures, there was a trend for a reduction in @PHENOTYPICFEATURE$ duration when clinical and subclinical seizures were treated.	false
+e1c132bc55956bfeee2d17281d209afe31cefdc5	In this small group of infants with neonatal @DISEASE$ and seizures, there was a trend for a reduction in seizure duration when clinical and subclinical @PHENOTYPICFEATURE$ were treated.	false
+2c921e94b786765abee382885f07abd3de7a0f2e	PPHN is common among infants with moderate/severe @DISEASE$ and is associated with severe @PHENOTYPICFEATURE$, lung disease, sepsis, systemic hypotension, and increased mortality.	false
+0b9ca2d4aaeb0764815e518193add0ccd0897cba	@PHENOTYPICFEATURE$ in @DISEASE$ patients were reviewed with Medline and Google Scholar-based searches.	false
+92f32cd97053c5a65d9fc72bcfc926c50703311d	The cohort under analysis included 23 infants with @DISEASE$ and @PHENOTYPICFEATURE$ defined by multi-channel EEG recordings.	false
+79ece62fe821c026b2859d1b422284e9c844a45e	Twenty five percent of neonates with @DISEASE$ develop severe and permanent neuropsychological sequelae, including @PHENOTYPICFEATURE$, cerebral palsy, and epilepsy.	false
+036a8aa0af4368ff42cc30266b83ae4f62bb4e57	Four infants with @DISEASE$ suffered from CP or @PHENOTYPICFEATURE$, and the other five infants exhibited normal neurodevelopment.	false
+18462a9986d9941db4a42ebb07ee13bd5f607a25	In this review, we summarize advances in the genetic investigation of stuttering, speech-sound disorder (SSD), specific @PHENOTYPICFEATURE$ (SLI), and @DISEASE$ (DVD).	false
+82db629d528f0dad333e8c5351df5e6235626e49	Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have been shown to cause @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1d3ed4c3f0e914880906545174f9ffc0bd1980a5	However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (@DISEASE$), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, @PHENOTYPICFEATURE$, and speech/language impairment.	false
+9a7ac5883fe24a1bda0e50438bb6793ec8394417	However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (@DISEASE$), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability, and speech/@PHENOTYPICFEATURE$.	false
+965b3f9d9c5957dfbabf16dc8d036abed1d5b1f6	Two participants, 1 of whom was among the 8 with @DISEASE$, met criteria for @PHENOTYPICFEATURE$ or hyperkinetic dysarthria.	false
+8a3c7c06986b273e27ca7f8762fb624874ad0ea0	To characterize the presenting characteristics, preoperative clinical activity score (@DISEASE$), surgical approach, and visual outcomes in patients with thyroid eye disease undergoing repeat orbital decompression for recurrent or recalcitrant compressive @PHENOTYPICFEATURE$ (CON).	false
+cc6f8765e45a4cb4474811ab5a223629e1db6bfc	In 12 (1/49,925) of the 27 PMD @DISEASE$ hypoplasia and/or @PHENOTYPICFEATURE$ of the ipsilateral hand was also diagnosed.	false
+62a69caba08f3f9f2ad644949e5ce17e8094e098	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	false
+cf2e746616e5ba90cf6c49462cd1a9f3c465b809	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed @DISEASE$-dysarthria.	false
+514531549d161407f74ea6ba9e5079a5a64901f0	This effect did not depend on the presence or intensity of audiogenic @PHENOTYPICFEATURE$ during @DISEASE$.	false
+df35265cc8e085bde309431b9a00f49c228f3f58	Three new copy number variant hotspots are reported linking epilepsy and speech or @PHENOTYPICFEATURE$; and the links between two known genes for @DISEASE$, FOXP2 and SRPX2, begin to be elucidated.	false
+45738e63877d11202c1c68daf065b4ba129c736c	This study examined speech perception abilities among children with @DISEASE$ with and without language impairment compared to those with @PHENOTYPICFEATURE$, speech delay, and typically developing peers.	false
+eb9430685f0091b1673ac087213dd405fb598376	Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with @DISEASE$ are susceptible to complications such as rhabdomyolysis, @PHENOTYPICFEATURE$ cardiac arrest, and hyperthermia during the perioperative period.	false
+9dfa069d3dd4a9c91069ee40be3949fa2fe6a878	Duchenne muscular dystrophy (@DISEASE$) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as rhabdomyolysis, @PHENOTYPICFEATURE$ cardiac arrest, and hyperthermia during the perioperative period.	false
+ae5535e9d75fefe689f327586115888548f8a814	@DISEASE$ (DMD) is the most common childhood muscular dystrophy that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as rhabdomyolysis, @PHENOTYPICFEATURE$ cardiac arrest, and hyperthermia during the perioperative period.	false
+773f9536bf2075ca588c12dcd90608463908ce23	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, @DISEASE$, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+fac6693b62d6faa1959675f1633c340b55691923	The @DISEASE$ children were significantly impaired in reading non-words, suggesting reading disability similar to dysphonetic dyslexia, the most frequent subtype of developmental @PHENOTYPICFEATURE$.	false
+bcf653f5900e99bf1f98139ff3a0ae21991e85f0	The results confirmed the high incidence of literacy problems in boys with @DISEASE$ and revealed a profile less severe than, but qualitatively similar to, that of Italian children with developmental @PHENOTYPICFEATURE$.	false
+06474a7a02f50c402d8e0258c0c8e926f533bee5	Reading impairment in @DISEASE$: A pilot study to investigate similarities and differences with developmental @PHENOTYPICFEATURE$.	false
+b5c3854937e5a78f3618de1c842fee89982f2b2f	Here we report a case of a manifesting carrier of @DISEASE$ with skeletal muscle weakness and cardiac abnormalities such as deterioration of cardiac function and left @PHENOTYPICFEATURE$, who successfully underwent cardiac surgery.	false
+d1dc8474211147118c5cbe02c11a21d3eedb365a	In this study, the presence and characteristics of literacy deficits in boys with DMD were investigated through a comparison with typically developing children and with children affected by developmental @PHENOTYPICFEATURE$, with the aim of clarifying whether @DISEASE$ and developmental dyslexia have overlapping profiles of literacy deficits and whether these deficits are associated, as in children with dyslexia, with impairments in phonological processing and rapid lexical access.	false
+13178f6f0b97e837a64e103359a5be559353dc5d	In this study, the presence and characteristics of literacy deficits in boys with @DISEASE$ were investigated through a comparison with typically developing children and with children affected by developmental @PHENOTYPICFEATURE$, with the aim of clarifying whether DMD and developmental dyslexia have overlapping profiles of literacy deficits and whether these deficits are associated, as in children with dyslexia, with impairments in phonological processing and rapid lexical access.	false
+a5424ebb6ee19df8a397c8ae1a3fefa5f9a364ee	We show here that, like @DISEASE$ patients, mice that lack dystrophin and have shortened telomeres (mdx/mTR(KO)) develop severe functional cardiac deficits including @PHENOTYPICFEATURE$, contractile and conductance dysfunction, and accelerated mortality.	false
+9ce069b911f31e3f6310080f0efbc09f4c10f63e	The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: (i) craniofacial dysmorphia; (ii) delayed growth; (iii) @PHENOTYPICFEATURE$ or learning difficulties; (iv) cardiac malformations (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy); (v) cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid tumors and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. NCFC subsumes neurofibromatosis type1, Legius syndrome, @DISEASE$, Noonan syndrome, Costello syndrome and (cardiofaciocutaneous CFC) syndrome.	false
+3243035d4497e12e037e644106311bd462c9b95f	A 53-year-old Japanese man presented with generalized lentigines, arrhythmia, gonadal hypoplasia, endocrine abnormality, @PHENOTYPICFEATURE$ and skeletal abnormalities, and was consequently diagnosed as @DISEASE$.	false
+3cdf5900b35d704713e9f911e590ed21b47eda7d	So far, they have been shown to investigate the molecular mechanisms of many cardiac disorders, such as long-QT syndrome (LQT), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), @DISEASE$ (LS), arrhythmogenic cardiomyopathy (ACM), Friedreich @PHENOTYPICFEATURE$ (FRDA), Barth syndrome (BTHS), hypoplastic left heart syndrome (HLHS), Marfan syndrome (MFS) and other CHD.	false
+cb34f7b42e92ebbec826b5c8d8e1498e86ee85cc	In addition, iPSC-CMs have shown some features of the respective phenotypes for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), @DISEASE$, Pompe's disease, and Friedriech's @PHENOTYPICFEATURE$.	false
+4a3eb8a8732f26b47bea15fe27b9702b83dcf25e	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [@DISEASE$ (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/@PHENOTYPICFEATURE$, and tumor predisposition.	false
+e76de06e0b22d9e31368773072b9e8504928cb89	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called @DISEASE$; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/@PHENOTYPICFEATURE$, and tumor predisposition.	false
+3f91e576a92363517dc1599de84f7463cc893c63	Muscle training-induced bilateral brachial plexopathy in an adolescent with @PHENOTYPICFEATURE$ @DISEASE$.	false
+59352755990815ec62889c14844a3cf7f1ba9246	The series included cases with Friedreich's @PHENOTYPICFEATURE$, HSAN I, HMSN I-III, HMSN VI, @DISEASE$, metachromatic leukodystrophy, ceroidlipofuscinosis, dysproteinemic neuropathies, and myotonic dystrophy, in addition to several neuropathies less-specifically classified as either of a predominantly demyelinating, axonal, or neuronal type.	false
+13cc1cf6785885ac136df53f4da1d6f8b7d2d63a	Disorders known to be caused by molecular and cytogenetic abnormalities of the proximal short arm of chromosome 17 include Charcot-Marie-Tooth disease type 1A (CMT1A), @DISEASE$ (HNPP), Smith-Magenis syndrome (SMS), and @PHENOTYPICFEATURE$ and congenital anomalies associated with partial duplication of 17p.	false
+287217136aab125e5721d85924fe4b36d44012d8	These findings will be useful to further elucidate neurovascular interaction in general and to understand pathologies of the blood vessel system such as intracerebral haemorrhages, hereditary haemorrhagic telangiectasia, Alzheime?s disease, @DISEASE$ or @PHENOTYPICFEATURE$ biology.	false
+c889d93c5d778808cd3070acc5ffb7300e401ed6	Cerebral microbleeds are common among patients with hypertension, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+a609ca0de21207c5f2cbde545d9bd2648e17e15b	Here, for the first time, we describe in detail the clinical and neuroimaging findings in 3 patients with early onset symptomatic amyloid-? @DISEASE$ following childhood exposure to cadaveric dura (by neurosurgical grafting in 2 patients and @PHENOTYPICFEATURE$ embolization in a third).	false
+4b5420d5544f3294a47b6ce9d4f30e1cae656bed	We suggest that the clinical presentation in DS (prominent memory decline and behavioral symptoms, and early development of @PHENOTYPICFEATURE$ and seizures) are similar to the clinical features associated with APP mutations that is known to have an increased A?42/ A?40 ratio, and highlight the relative lack of vascular complications associated with @DISEASE$ in DS in comparison with those rare individuals with FAD due to duplication APP.	false
+7f0579c15153437ae945369b508bd32d3e9aee50	Risk factors for sICH include hypertension, advanced age, leukoaraiosis, prior ICH, @PHENOTYPICFEATURE$, use of anticoagulant drugs, and @DISEASE$.	false
+c2f1bc31cecb0b72460f7816048f4efa8176fcd1	In this clinical review (Part 2), we present a variety of neurovascular and neurodegenerative disease applications for SWI, covering trauma, stroke, @DISEASE$, venous anomalies, multiple sclerosis, and @PHENOTYPICFEATURE$.	false
+da7bc9bea85759f7cab9670d692fc23c88455389	Simultaneous occurrence of multiple intracerebral haemorrhages (ICHs) in different arterial territories is a rare clinical event which has been reported to be associated with @DISEASE$, venous sinus thrombosis, coagulopathy, vasculitis, haemorrhagic transformation of cerebral infarcts and multiple intracranial pathologies such as vascular anomalies or @PHENOTYPICFEATURE$.	false
+24cd086515c18a1c40fa8a41b86c1eac3be63972	Fifty-five patients with epilepsy, 18 patients with mild traumatic brain injury, 11 patients with known or suspected multiple sclerosis, 9 patients with amyotrophic lateral sclerosis, 4 patients with intracranial @PHENOTYPICFEATURE$, 2 patients with orbital melanoma, 2 patients with cortical infarcts, 2 patients with cavernous malformations, and 1 patient with @DISEASE$.	false
+a07cda47b02fa8b5dc94a073d3f5bfdb342e68d0	Primary causes such as arterial hypertension or @DISEASE$ can be differentiated from secondary pathologies, such as @PHENOTYPICFEATURE$, arterio-venous malformations, coagulopathies, hemorrhagic ischemic strokes, and cerebral venous and sinus thrombosis.Here, the authors first provide some general information on epidemiology, clinical presentation, and imaging appearance of ICHs followed by a detailed discussion of the different underlying pathologic entities and their imaging presentation.	false
+61f57ec3bd2ee024afbaa6a0e620291a6cfbd7d9	[Inflammation as part of @DISEASE$ disguised as a @PHENOTYPICFEATURE$].	false
+b92dd62fc0466c9bd8b68b06018534136ff7b47d	A combination of congenital central nervous, ocular and @PHENOTYPICFEATURE$ is characteristic of muscle-eye-brain disease (MEB), of @DISEASE$ (FCMD), and of Walker-Warburg syndrome (WWS).	false
+bc36505e1cbff02b8a01f1e5c8a5fc5d44e69a07	A combination of congenital central nervous, ocular and @PHENOTYPICFEATURE$ is characteristic of muscle-eye-brain disease (MEB), of Fukuyama congenital muscular dystrophy (@DISEASE$), and of Walker-Warburg syndrome (WWS).	false
+f02d70e2bc3a0bdb9c3f0c6da43f0cc536930c30	We describe an 18-year-old girl with ovarian dysgenesis, @DISEASE$, mild mental retardation, broad nasal base, blepharoptosis, and minor @PHENOTYPICFEATURE$.	false
+9ee9ef82defc4ca2696fe20c0e16778b6c8c2420	Pheochromocytoma underlying @PHENOTYPICFEATURE$, stroke, and @DISEASE$.	false
+5605102bfaee0c5e4f94b4363f82993f25425d18	Certain mutations in lamin A/C cause conduction system disease and @DISEASE$, whereas other mutations cause in addition skeletal muscle @PHENOTYPICFEATURE$.	false
+0073b7aeb81eb2cbf9f7d2c6cb63920e937816f2	@DISEASE$-mediated heart failure induces a unique skeletal muscle @PHENOTYPICFEATURE$ with inflammation.	false
+a8c5f69f9f4c6ade4d3b210c3311473aeec4db60	Other features that are more variable in expressivity include @DISEASE$, hypertriglyceridemia, @PHENOTYPICFEATURE$, scoliosis, developmental delay and pulmonary and urological dysfunctions.	false
+484ad511027a614adb1b9db14a5e03e3bed0901a	Echocardiography had shown @DISEASE$, with a preponderance of right heart findings and pulmonary @PHENOTYPICFEATURE$.	false
+79b1a3a5179a521646a5059aa1b53204481a6db7	Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle @PHENOTYPICFEATURE$ and severe @DISEASE$ in nearly 40% of cases.	false
+cab78f6f83779f0366af53dd00ca8cead170517e	@PHENOTYPICFEATURE$ and reversible @DISEASE$.	false
+d437f90f9041d59698d450742de19a42ce95f8d4	An unusual case of @DISEASE$ associated with partial @PHENOTYPICFEATURE$.	false
+c979bc975e0dfe4e0a77b24e163783c44c018654	Commonest causes of HF were hypertensive heart disease, pulmonary @PHENOTYPICFEATURE$ and @DISEASE$.	false
+98351cc6c2bcb1ef495557358af1e8e72f1b871d	All patients had urinary dysfunction requiring drainage from etiologies that included @DISEASE$ (n?=?2), Noonan syndrome (n?=?1), Lennox-Gastaut syndrome (n?=?1), and @PHENOTYPICFEATURE$ (n?=?2).	false
+c1c7f83f67f1e8770b43007e119ca530bf71e13c	Were included, for this study, patients suffering from posterior urethral valves (n= 49), @PHENOTYPICFEATURE$ (n=21), central neurogenic bladder (n=13), bladder exstrophy (n=14), @DISEASE$ (n=12), Hinman syndrome (n=6), urogenital sinus (n=4) and other pathologies (n=4).	false
+67c8589da65573321f308fb8420b3038820d9a16	The selected anomalies include renal anomalies, tumors, the exstrophy complex, urogenital anomalies, ambiguous genitalia, posterior urethral valves, scrotal anomalies, @PHENOTYPICFEATURE$, and common urologic syndromes such as the @DISEASE$.	false
+df543cac2ef994240803910449a5a4eb56361738	It is difficult to establish whether the Ile538Val substitution is rare in hypochondroplasia patients or whether the individuals, who have a moderate degree of short stature, rarely seek medical help for the @PHENOTYPICFEATURE$ and consequently are rarely diagnosed as affected by @DISEASE$.	false
+5033d74b36912a631cccd1c088087965facff139	It is difficult to establish whether the Ile538Val substitution is rare in @DISEASE$ patients or whether the individuals, who have a moderate degree of short stature, rarely seek medical help for the @PHENOTYPICFEATURE$ and consequently are rarely diagnosed as affected by hypochondroplasia.	false
+4279fa70e6915a6a37272cf4d7edfb1469398736	It is difficult to establish whether the Ile538Val substitution is rare in @DISEASE$ patients or whether the individuals, who have a moderate degree of @PHENOTYPICFEATURE$, rarely seek medical help for the short stature and consequently are rarely diagnosed as affected by hypochondroplasia.	false
+f7de587b3ddae0ba00979894421001ebe140de86	It is difficult to establish whether the Ile538Val substitution is rare in hypochondroplasia patients or whether the individuals, who have a moderate degree of @PHENOTYPICFEATURE$, rarely seek medical help for the short stature and consequently are rarely diagnosed as affected by @DISEASE$.	false
+8248e9a4257effbba55d1c93904d89dfcb9a1652	@DISEASE$ (HCH) is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$ with disproportionately short arms and legs.	false
+486405869eaf2a7f9a4bd327df59d3f885b35135	@DISEASE$ represents a greater clinical and genetic heterogeneity, possibly being confused with "idiopathic @PHENOTYPICFEATURE$".	false
+21f5c85c09fdc695dee02e030427920cf4999e67	An allelic disorder, @DISEASE$, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopathic @PHENOTYPICFEATURE$.	false
+811182f3be89c8c67a841194d0da8d568105ea18	Achondroplasia and @DISEASE$ are the most common forms of @PHENOTYPICFEATURE$.	false
+a9a124cee2618ebfbd9eb94ba297df5054e12104	We report a child who presented with extensive acanthosis nigricans, @PHENOTYPICFEATURE$, and radiographic evidence of @DISEASE$.	false
+3afa2d604f086daf4a9ce0d3f7ed8148408f7d08	Limb lengthening has been undertaken in patients with @PHENOTYPICFEATURE$, including achondroplasia, @DISEASE$ and other skeletal dysplasias.	false
+ac2e71dbb49ac11e1bb36b38298cfc51c118d8ba	@DISEASE$ (HCH) is an autosomal dominant condition characterised by @PHENOTYPICFEATURE$, micromelia, and lumbar lordosis.	false
+7af4dcc84955c2acaf6ea9336baa4667179e0594	@DISEASE$ (HCH) is a skeletal dysplasia, characterized by @PHENOTYPICFEATURE$ and macrocephaly.	false
+b84f33bfdd09df1599c4428381a1a5b7cb0ab060	@DISEASE$, a heterogeneous and usually mild form of chondrodystrophy, is a common cause of @PHENOTYPICFEATURE$.	false
+09f7c76fc29352e0b52be8ffcdd28ad3d6c1a6d1	My findings accounted for epigenetic mechanism in the regulation of alternative APP pre-mRNA splicing as well as for epigenetic control of genomic rearrangements of APP gene may provide therefore new directions not only for investigating the role of APP in neuropathology associated with HGprt-deficiency in LNS and LNVs patients but also for the research in neurodevelopmental and neurodegenerative disorders by which APP gene involved in the pathogenesis of the diseases such as @PHENOTYPICFEATURE$, fragile X syndrome (FXS), and Alzheimer's disease (AD) with its diversity and complexity, especially for sporadic form of AD (@DISEASE$).	false
+448418d1fe9f7b43d7d783a244c3f70e12f80ea8	Among 1754 consecutive first ever stroke patients admitted to our department, we analyzed age, gender, vascular risk factors (hypertension, diabetes, ischemic heart disease, arterial peripheral disease, @PHENOTYPICFEATURE$, smoking, alcohol, or illicit drug use), clinical data (motor or sensitive deficit and presence of dysarthria), and outcome (hospitalization length, in-hospital medical complications rate, need of rehabilitation, treatment at discharge, in-hospital mortality, and modified Rankin Scale at discharge) of those patients classified as LI associated with LAD as compared with those with @DISEASE$.	false
+552c872ea0f2b4359de7d7acabdfcd0056ddc1aa	@PHENOTYPICFEATURE$ onset is around 40 years for DS, 40-60 years for FAD, and usually over 60 years for @DISEASE$.	false
+29f3958c20eecc45e9eec8c5cec43b6dba63f350	When 1K1C hypertension was combined with @DISEASE$ an additional increase in MAP and HR occurred, whereas IHR was reduced compared with renal @PHENOTYPICFEATURE$ alone.	false
+e5a60c171b3724eeafeab9805a69632ce05d08f8	Three clusters were identified: fatigue/anorexia-cachexia/depression (FAD), sleep/@PHENOTYPICFEATURE$/drowsiness (@DISEASE$), and pain/dyspnea (PD).	false
+177611cc0a5655d00d53ddc252669f07f32ca92f	Demographic data and comorbid psychiatric symptoms were compared between the two groups using self-rating scales measuring insomnia (Athens Insomnia Scale, AIS), depression (Beck Depression Inventory, BDI), anxiety (State-trait Anxiety Inventory, STAI), attention deficit hyperactivity disorder (ADHD) (Adult ADHD Self-report Scale, ASRS), @PHENOTYPICFEATURE$ (Autism Spectrum Quotient, AQ), obsessive-compulsive disorder (OCD) (Obsessive-Compulsive Inventory, OCI), social anxiety disorder (@DISEASE$) (Liebowitz Social Anxiety Scale, LSAS), alcohol abuse, and impulsivity (Barratt Impulsive Scale, BIS).	false
+44ed4c79b5a4c364bd191870257f213f4d820f1d	Approximately half the @DISEASE$ mice that survived to adulthood had an identifiable respiratory phenotype including baseline tachypnea at 7-8 months of age, restrictive lung disease, pulmonary @PHENOTYPICFEATURE$, cardiac enlargement, lower total lung capacity, and pulmonary vascular congestion.	false
+308038df30777012884f69e1fc29e9ec8c030d57	The findings of proteinuria, renal failure, and @DISEASE$ on renal biopsy, in conjunction with an elevated c-ANCA titer, confirmed the diagnosis of Wegener's granulomatosis with associated intestinal @PHENOTYPICFEATURE$.	false
+cdb6d658d0116a9f819733110d937e629e3b4147	We report 4 cases of renal @PHENOTYPICFEATURE$ or @DISEASE$ after checkpoint inhibitor therapy.	false
+9054a774609a2aa000c7e28dbad1592ea2924142	Diagnoses included complex regional pain syndrome, @PHENOTYPICFEATURE$, Buerger's disease, @DISEASE$, and peripheral vascular disease.	false
+1b42a3db030b0f6eeca5aafc39aa16815ddae908	Disturbances of blood flow can be due to compression of the blood vessel (@PHENOTYPICFEATURE$, hematoma, compartment syndrome), structural changes within the vessel (atherosclerosis), vasospasm (@DISEASE$), vasodilatation (sepsis, distributive problems), or blood clot (thrombus or embolus).	false
+d254b7d29535998926212f17447605b45e0cade0	Several factors were associated with lower-than-average risk, including the presence of ILD, arthritis/@PHENOTYPICFEATURE$, @DISEASE$, or anti-Jo-1 antibody.	false
+f2245eb2f1e11d06a86fd6f59a180efc0078c05e	From 1993 to 2003 we performed 53 videoscopic thoracic sympathectomies in patients with @DISEASE$ and upper limb @PHENOTYPICFEATURE$.	false
+852a6ad5a44bf722e2e68764d6071de0be5827d2	This paper discusses selected paraneoplastic rheumatologic syndromes that often occur in older people, including carcinomatous polyarthritis, remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ (RS3PE), palmar fasciitis-polyarthritis syndrome, hypertrophic osteoarthropathy, tumor-induced osteomalacia, cancerassociated myositis, paraneoplastic scleroderma like syndrome, paraneoplastic vasculitis and paraneoplastic @DISEASE$.	false
+9fc610e2b34468529af3bf53e73c4317b8538ce8	In 20% of the patients a systemic @PHENOTYPICFEATURE$, a hepatomegaly as well as a @DISEASE$ were stated.	false
+6962303ee6ab22d6394d5fb2118674867affbdec	An 81-year-old male patient was admitted to the Saitama Medical School for treatment of gross hematuria, leukocytosis and @PHENOTYPICFEATURE$ and diagnosed as having advanced @DISEASE$.	false
+007ad6c01f3d03e24b19b15da95cac9cd7b10b3f	While men have a higher risk of developing @DISEASE$, women tend to present at a later stage of disease and with more @PHENOTYPICFEATURE$ tumors.	false
+ceef940ca3351eb73fd7c2091aeab5a169282e9a	Of the 608 patients 529 (87%) presented with de novo @PHENOTYPICFEATURE$ or chronic voiding symptoms without a diagnosis of @DISEASE$.	false
+61785e5f6d1f2c85cb6971b38c2b9fc3fba4f6ae	The present review provides information on 63 miRNA genes shown to be epigenetically regulated in association with 21 diseases, including 11 cancer types: cardiac fibrosis, cardiovascular disease, preeclampsia, Hirschsprung's disease, rheumatoid arthritis, systemic sclerosis, systemic lupus erythematosus, temporal lobe epilepsy, @PHENOTYPICFEATURE$, pulmonary fibrosis, melanoma, acute myeloid leukemia, chronic lymphocytic leukemia, colorectal, gastric, cervical, ovarian, prostate, lung, breast, and @DISEASE$.	false
+b92926831ef1a48b742283ce21a9925fe50c4b7c	In contrast, none of the 72 patients who had never had nonglomerular @PHENOTYPICFEATURE$ developed @DISEASE$.	false
+526adbb0ed08151462641649919475052e585c90	Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss @DISEASE$ in humans, and @PHENOTYPICFEATURE$ and circling behavior in shaker 2 mice.	false
+310ad8ab198c0a93a8104ed8715db64666cd065f	Our results suggest that @DISEASE$ deficiency is not detrimental to the heart in @PHENOTYPICFEATURE$.	false
+ba4a1394fbd00246754f2c2915ae61eae782cf93	We include a discussion of available surgical options, describing our own experience with surgery for @DISEASE$ and the associated postoperative considerations including rates of seizure freedom, considerations for reoperation, and @PHENOTYPICFEATURE$.	false
+a79a22bf6966ee4e04065cb1e22851576b7a5e0b	Echocardiographic parameters of pts with @PHENOTYPICFEATURE$ and biopsy-proved @DISEASE$ or DC did not differ significantly.	false
+3b2045598b0fc23cc9fa2ab52c2d1cdc90887390	Phospho-AKT/total AKT ratio and pathways associated with antiapoptosis, inflammation, insulin resistance, and @PHENOTYPICFEATURE$ were also significantly reduced in NCKD relative to @DISEASE$ tumors.	false
+56edb03d3e8554eebf07a8ef4b930c2b3b84f94a	We sought to examine the relationship between coronary flow reserve (CFR) and myocardial capillary density (@DISEASE$) in patients with idiopathic dilated cardiomyopathy, @PHENOTYPICFEATURE$, and normal coronary arteries.	false
+390a373e15be76ce95db60a7c478f4f860d17bed	We report a case of @PHENOTYPICFEATURE$ in a female patient with @DISEASE$.	false
+781ed1af8c6974908b2f81fe39f29abfb08e2128	However, ~40% of patients with @DISEASE$ deficiency are diagnosed with @PHENOTYPICFEATURE$ during infancy.	false
+f0f0ec3791d114413702b09e7e642477b5cf8c5f	@DISEASE$ is associated with a 2.5% annual major adverse event rate that includes death, nonfatal myocardial infarction, nonfatal stroke, and @PHENOTYPICFEATURE$.	false
+68e3b0cb1d35b7240c1c8158cd476f264bd46820	Macular corneal dystrophy (@DISEASE$) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6.	false
+f580fb95f708007791197ae139894f1e96b56ede	@DISEASE$ (MCD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6.	false
+712f889ef0d86b59788f8d34ece2a68bdaefad17	 ) on glucose metabolism, @PHENOTYPICFEATURE$ and hepatic disease in mice exposed to a high-fat or methionine-choline-deficient (@DISEASE$) diet.	false
+950223441dbfc5b380dd5f61c6bc5b24a5b2a3c5	We suggest that these cells may be involved in the integration of afferent baroreceptor information; may possibly be concerned with the generation and/or processing of central cardiac @PHENOTYPICFEATURE$ in humans; and that their derangement may possibly contribute to the lethal cardiovascular disturbances which occur in @DISEASE$.	false
+a9034d4a42536939973778605939e6e303f65690	@PHENOTYPICFEATURE$ onset is around 40 years for DS, 40-60 years for @DISEASE$, and usually over 60 years for SAD.	false
+38f768899e77afc95aa1845b4b9fe2439310e3ac	Mutations in Amyloid ? Precursor Protein (APP) and in genes that regulate APP processing--such as PSEN1/2 and ITM2b/BRI2--cause familial @PHENOTYPICFEATURE$, such Familial Alzheimer disease (@DISEASE$), Familial Danish (FDD) and British (FBD) dementias.	false
+e8a171fcffa31bed90c9dfd88bcea433ec855315	A health questionnaire based on parental observations of clinical signs of fatty acid deficiency (@DISEASE$) showed that patients with @PHENOTYPICFEATURE$ and Asperger's syndrome (ASP) had significantly higher FAD scores (6.34+/-4.37 and 7.64+/-6.20,	false
+3037dc575dd4826e16301e6ece8ef6db8f0fcb43	A health questionnaire based on parental observations of clinical signs of fatty acid deficiency (FAD) showed that patients with @PHENOTYPICFEATURE$ and Asperger's syndrome (ASP) had significantly higher @DISEASE$ scores (6.34+/-4.37 and 7.64+/-6.20,	false
+9d2056eb39d347eb0360a3a1ed03a7995f669996	Three clusters were identified: fatigue/anorexia-cachexia/depression (@DISEASE$), sleep/@PHENOTYPICFEATURE$/drowsiness (SAD), and pain/dyspnea (PD).	false
+695f01e7598ea3a779fd54946b8742429b0ad116	Mutations in PSEN1 are responsible for familial Alzheimer's disease (@DISEASE$) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset @PHENOTYPICFEATURE$ cases.	false
+dd9995bfe851061b1eb81c5240080eb9a4c11fb8	Family 2 showed the C634R mutation only in the index case, who presented with cutaneous @DISEASE$ in addition to MTC, pheochromocytoma and @PHENOTYPICFEATURE$.	false
+2881cfb085ce0efe0a53a42db4c289f83d44faf0	Autopsy revealed a second primary @PHENOTYPICFEATURE$ in 21% of the cases; 12% of these were oropharyngeal-laryngeal (@DISEASE$) carcinomas, and 9% were visceral carcinomas or malignant lymphomas.	false
+d2c70148b854249bc804ee9bdd9742daa0c6d2d8	Here we show that the @DISEASE$ is also affected by non-anatomical factors in patients with @PHENOTYPICFEATURE$ and complete commissurotomy where interhemispheric transfer must be subcallosal.	false
+a7d90047a85a7f2cc1032b4b1a8f064e7ed95c5f	@DISEASE$ presenting as intractable @PHENOTYPICFEATURE$.	false
+2163608c1e24cd4d6c80c6a8e2e93c87e428a351	Risk factors for VHE include VPA-drug interactions, @PHENOTYPICFEATURE$, @DISEASE$ and presence of urea cycle disorders.	false
+3d9a3ed41a614a9086d46b14c8ef35ae3ec8eba1	@DISEASE$ is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, @PHENOTYPICFEATURE$, diet and enteral or parenteral feeding.	false
+6356c2ef4552b45a5d669b42511c7b971b18760c	Both the substances function as inhibitory transmitters in the brain and should be considered when @PHENOTYPICFEATURE$ activity in patients with systemic @DISEASE$ is discussed.	false
+91e7fadbcf3842af60058df776b3218d6eb365cf	The patient developed hypotonia, hearing loss, @PHENOTYPICFEATURE$, short stature, cataracta, hypoparathyroidism, DeToni-Fanconi-Debr? syndrome and @DISEASE$.	false
+7664c0d84550e58c93cb170979452a4a82a90558	A newborn with @PHENOTYPICFEATURE$ born to a mother diagnosed with @DISEASE$.	false
+6d63076ab52e41952749c6f9c4792f9443080cd2	Previous studies suggest a significant decrease in carnitine concentrations and changes in the ratio of acylcarnitine to free carnitine in @PHENOTYPICFEATURE$-disoriented patients treated with valproic acid (VPA), which may lead to clinical manifestations of @DISEASE$.	false
+1c92f1a07e7b37b99a11e21c704d61fd481a9e96	We present a case of systemic @DISEASE$ who presented with @PHENOTYPICFEATURE$ due to hypoketotic hypoglycemia.	false
+3787b84927493f963d2905954e64ff56b55472cc	CP, @PHENOTYPICFEATURE$, autism spectrum disorder, and @DISEASE$ are the most common pathologic diagnoses identified in our population.	false
+f4f9127551a955a4f1744e88fafdbfdcf287e150	Previous reports have shown the association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+51ebe0c59b4089406941dbd1e884e4335cef0c13	Hereditary spastic paraparesis (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder, characterized by progressive lower limb weakness and spasticity.	false
+0154aacea5ca212c7058d6f43fc075f743169499	Mutations in the KIF5A showed a wide phenotypic spectrum from @DISEASE$ (HSP) to axonal Charcot-Marie-Tooth @PHENOTYPICFEATURE$ type 2 (CMT2).	false
+f0fa960d1148cd28ccc8c2a6657605cd2b7e3c2a	Mutations in the KIF5A showed a wide phenotypic spectrum from hereditary spastic paraplegia (@DISEASE$) to axonal Charcot-Marie-Tooth @PHENOTYPICFEATURE$ type 2 (CMT2).	false
+3038029e1ad6561cebf16475a14e63bd661fad02	@PHENOTYPICFEATURE$ in @DISEASE$ caused by REEP1 variants.	false
+df3f4abd258d3630942258dcc9d3afc165adb205	@DISEASE$, peroneal neuropathy, and crural @PHENOTYPICFEATURE$: a new neurocutaneous syndrome.	false
+7bdb4f0503ac3eeb9fba71bdd46c552b1577e512	[@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+97dee5319cf8ac88a70ff1ec594144146f33d3eb	@DISEASE$ associated with @PHENOTYPICFEATURE$: a distinct clinical and genetic entity.	false
+27bfc81299cb13b30c0da0e4757e9c60d7443673	[@DISEASE$ associated with congenital cataracts, mental retardation and @PHENOTYPICFEATURE$].	false
+dd543b62ac2d5b78df712f7a57727e66e301c074	Identification of two novel KIF5A mutations in @DISEASE$ associated with mild @PHENOTYPICFEATURE$.	false
+7337c69de39a0f32c453cd324875e79d8a776315	Three children had another condition enhancing the risk of cholestasis (@DISEASE$, @PHENOTYPICFEATURE$, perinatal asphyxia, and total parenteral nutrition).	false
+3dd69e37c1075ae105a9ffb9c384176e50d0f17e	Children with @DISEASE$ complain of @PHENOTYPICFEATURE$ more frequently than other children and quite early in the course of the disease.	false
+dba54aab3ab73fc62a47d8c896478c708353b42e	@PHENOTYPICFEATURE$ are common in patients with @DISEASE$, and may be the only clinical manifestation of the disease in some patients.	false
+e15c17c2905cebce760c03a346a8ef4d5f2dd21f	@PHENOTYPICFEATURE$ in @DISEASE$ and Fabry's cardiomyopathy.	false
+7ffdbf8ca317ec98b6bd1e3725ac3a1811b76771	The possibility of @PHENOTYPICFEATURE$ should be considered in heterozygous women with @DISEASE$.	false
+0ee6535017a21a416c287044d7d49dbbd572883e	Studies involving large groups of patients have improved our understanding of hearing impairment and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+965c0237431494f7630b4d1b9931b90b22dcf68b	@PHENOTYPICFEATURE$ in patients with @DISEASE$ were first described in the 1960s.	false
+15ac93b8220783296c72006d1aeafb46b7200129	Hearing loss and @PHENOTYPICFEATURE$ are common symptoms in @DISEASE$ and increase in prevalence with age.	false
+5222366cca92a80e9a2445bedd3b066f819dd415	@DISEASE$ (FD), an X-linked recessive lysosomal storage disorder caused by a deficiency of ?-galactosidase A (?-Gal A) activity, is associated with cardiac manifestations including arrhythmias, @PHENOTYPICFEATURE$, and cardiomyopathy.	false
+5d67f21a5c6f96d0e8657885f0a4ba7b436b8fde	Up to 60% of males with classic @DISEASE$ have @PHENOTYPICFEATURE$, including left ventricular hypertrophy, valvular dysfunction and conduction abnormalities.	false
+22841d20a4b693d8b33f736dd94c6c525ed907a9	The degree of right ventricular involvement in @DISEASE$ is related to the left ventricular @PHENOTYPICFEATURE$ stage.	false
+1d47f5a2bcb530d386411fb28bce8e3135a02d70	This finding was present in four neonates who were born with severe "floppy" hypotonia due to @DISEASE$ (two cases), nonspecific neonatal @PHENOTYPICFEATURE$, and congenital muscular dystrophy.	false
+5fa2af836d2a0247bde33ae9f25836d3bb93f1a8	Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as hydrocephalus, tuberous sclerosis, Friedreich ataxia, mitochondrial encephalo-myopathies, @DISEASE$, convulsive disorders, syncope, @PHENOTYPICFEATURE$, etc.	false
+c1647f71aa9dbea49c7801cd926d17eb8e8a405b	@DISEASE$, a rare autosomal recessive disorder characterized by skeletal @PHENOTYPICFEATURE$ and extremities, is associated with respiratory distress in infancy, hepatic fibrosis in some instances, and renal failure that may develop later.	false
+f6f16ad9f3fc864121247cff9958b68ec8cc6921	@DISEASE$, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic @PHENOTYPICFEATURE$, and variable renal, hepatic, pancreatic, and retinal complications.	false
+584ec2365e9372bf286cbc203ba01af16786aa86	@DISEASE$ typical hallmarks include @PHENOTYPICFEATURE$ such as narrow chest, shortened ribs, limbs shortened bones, extra fingers and toes (polydactyly), as well as extraskeletal manifestations (renal, liver and retinal disease).	false
+c9e65259bc09be79f61ae076cd9565159e8b056e	Neither of the four components of the MetS (hypertension, diabetes mellitus, overweight/@PHENOTYPICFEATURE$ and dyslipidemia) was an independent predictor of @DISEASE$.	false
+e109c66492c6f0c842bcf5ae4dc564c92b9726de	@DISEASE$ with caf?-au-lait spots, @PHENOTYPICFEATURE$ and hyperinsulinism caused by a mutation in the ARID1B gene.	false
+be13326752286e2f2208109d8f2d1d8f09926bb1	It may be difficult to determine myocardial disease activity status versus tissue damage in @DISEASE$ with prolonged duration of @PHENOTYPICFEATURE$ symptoms.	false
+de7b240e2e400742c7e98974c7066ded60b998e6	A case of @DISEASE$, presenting with fever and progressive @PHENOTYPICFEATURE$ due to pericarditis, eosinophilic endomyocarditis, and myocardial necrotizing vasculitis, is reported.	false
+3931153564d2baa67985035e2a2a94dd43456690	Considering the pathophysiologic mechanism of cardiac involvement in CSS, immunosuppressive therapy to control the disease activity of @DISEASE$ should be taken into account, besides usual management for @PHENOTYPICFEATURE$.	false
+370ec639215d1a3380f58922a41e70a619e68960	Considering the pathophysiologic mechanism of cardiac involvement in @DISEASE$, immunosuppressive therapy to control the disease activity of CSS should be taken into account, besides usual management for @PHENOTYPICFEATURE$.	false
+bef7258502b0142efc8d24601f6c97a7522011bc	We report a case of Churg-Strauss syndrome (@DISEASE$) complicated by severe @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+5ca3a66f1b1da58bd562b85420ebc9948fc21589	Tumor size >5 cm, mitotic rate ?10/10 HPF, stromal @PHENOTYPICFEATURE$ and cellularity (all p < 0.05) predicted DFS, whereas @DISEASE$ was associated with the latter three variables.	false
+76e782306d0d9d9fd57385049e27fb8b399e5963	After anticoagulation therapy, treatments for @PHENOTYPICFEATURE$, and immunosuppressive therapy including parenteral steroids and cyclophosphamide to control @DISEASE$, the symptoms and signs of heart failure and cardiac function of the patient were improved.	false
+6f26d820e33bc15b9b080b9a5e2ae726986ad086	After anticoagulation therapy, treatments for heart failure, and immunosuppressive therapy including parenteral steroids and cyclophosphamide to control @DISEASE$, the symptoms and signs of @PHENOTYPICFEATURE$ and cardiac function of the patient were improved.	false
+0faed1e21acb5cbf7ae9f84f458d1e971b0255b1	Here we report a case of @DISEASE$ presenting with acute myocarditis and @PHENOTYPICFEATURE$ and review the literature on CSS with cardiac involvement.	false
+afc03e14ab882c0517b50a58e01dfb01469f866d	We report a case of @DISEASE$ masquerading as a non-ST elevation myocardial infarction with @PHENOTYPICFEATURE$.	false
+7a015ce21cd9ddd429349f45a7c0c735c0ec3a49	Idiopathic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+03e339418c90285196071790be8e9bde216722e6	@DISEASE$ (HCM) is a common cardiovascular disorder with @PHENOTYPICFEATURE$ and incomplete penetrance.	false
+84b5210330400c3d4cff2a28b819049272011c0e	@DISEASE$ (HCM) is a common cardiovascular disorder with variable expressivity and @PHENOTYPICFEATURE$.	false
+8f110bb466543fd1d2bc1bceee890a022c27db26	In addition to neuropathological disabilities such as ataxia, sensory loss, and @PHENOTYPICFEATURE$, common signs are scoliosis, foot deformity, and @DISEASE$.	false
+8366db16d11f73c5222a375150c61b039ff7b0e8	We report a 20-year-old man with gigantism syndrome, @DISEASE$, @PHENOTYPICFEATURE$, exercise intolerance, and severe psychomotor retardation since childhood.	false
+af14930e458ffa055d0c58d121d94f2f255409ff	The neonate had distinct signs of congenital cytomegalovirus infection including petechiae, jaundice, @PHENOTYPICFEATURE$, cerebral ventriculomegaly and chorioretinitis together with @DISEASE$.	false
+8f286cbb85dd806e61be37fafb3d3a82828b9925	We describe a new Italian case with persistent hyperCKemia, exercise intolerance and @DISEASE$ but with no @PHENOTYPICFEATURE$ or mental impairment.	false
+c2abedf7141933d22bf2c069659d2b9761d5a152	Regional left ventricular myocardial @PHENOTYPICFEATURE$ abnormalities and asynchrony in patients with @DISEASE$ evaluated by magnetic resonance spatial modulation of magnetization myocardial tagging.	false
+fe18dceeb9f32c489a3e1bfeac6dc4fa62b26d79	@PHENOTYPICFEATURE$ and @DISEASE$ in a novel FHL1 mutation.	false
+a7422106feb295cb11a9d55dd86d097553377757	The etiology of the DCM was idiopathic DCM in 49 patients, and @PHENOTYPICFEATURE$ @DISEASE$ in seven patients and others in 18.	false
+79a85823a8e058154af765f12d13f7bb76d52cf1	Men were severely affected with cognitive disabilities (100%), @DISEASE$ (88%), and @PHENOTYPICFEATURE$ (80%).	false
+267ed6875af25bd486ae32619c554483c9e2b01d	@DISEASE$ with severe urolithiasis occurring in infancy as renal tubular acidosis and @PHENOTYPICFEATURE$.	false
+760ed76b99ef48c08beae16dc73df1713337c0f3	One case belongs to the benign form of the congenital muscular dystrophies; in the other cases however, the severity and the distribution of the muscular process, associated with @PHENOTYPICFEATURE$, seems to correspond to a unique variant of @DISEASE$.	false
+be633017661c5d5fe33af544c3f79e1a963b1cc5	One case belongs to the benign form of the @DISEASE$; in the other cases however, the severity and the distribution of the muscular process, associated with @PHENOTYPICFEATURE$, seems to correspond to a unique variant of congenital muscular dystrophy.	false
+32348a5eb238ff7463c0c48462efa3eeb88442d8	Complex @PHENOTYPICFEATURE$ (@DISEASE$; including tremor, dystonias, choreoatheosis, and myoclonus) following infarcts in the posterior and posterolateral thalamic nuclei have been reported.	false
+a916532b1d61076efb6d0a841695e66866042ebd	@DISEASE$ with @PHENOTYPICFEATURE$: association with Hirschsprung disease.	false
+489c97b917ad7f573c16a1e82dddef0820d07b8c	A subsequent skeletal survey revealed other @PHENOTYPICFEATURE$, which led to the diagnosis of @DISEASE$.	false
+adc559e5e6daef65bb515e5c74668c82504776ee	This finding was present in four neonates who were born with severe "floppy" hypotonia due to Werdnig-Hoffmann disease (two cases), nonspecific neonatal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a42d789cbca273dc76e23e513b097bc9c023d3c0	Logistic regression was used to compare prevalence of any @DISEASE$ disorders (diabetes, hypertension, @PHENOTYPICFEATURE$ or coronary artery disease) across groups.	false
+6a485816423a799235af376ab481c0c28c95deda	[Early @PHENOTYPICFEATURE$ and @DISEASE$: a clinical case].	false
+1141e8ec62fda06435350c46f5d8a1d27fb30c90	Cerebral CT scan abnormalities have been seen to be afflicted with some cases of classic occidental type @DISEASE$ (CMD) with normal or borderline intelligence without @PHENOTYPICFEATURE$.	false
+90ef3461437910f607002c2d816f800216e4774b	Cerebral CT scan abnormalities have been seen to be afflicted with some cases of classic occidental type congenital muscular dystrophy (@DISEASE$) with normal or borderline intelligence without @PHENOTYPICFEATURE$.	false
+4160591db53fab808184c5793fd3aabc02a6cacc	We report on a baby girl with congenital muscular dystrophy (@DISEASE$) with @PHENOTYPICFEATURE$ ("CMD Plus" condition), who also had Hirschsprung disease.	false
+3204afc9d4bcc9df34f909ba3f359ebf8f2888cc	We report on a baby girl with @DISEASE$ (CMD) with @PHENOTYPICFEATURE$ ("CMD Plus" condition), who also had Hirschsprung disease.	false
+19c600fc5c0b0667c3ff66aae43139755c5759b9	RSS is classified as a @DISEASE$, and is characterized by early rigidity of the spine, @PHENOTYPICFEATURE$, and restrictive respiratory dysfunction.	false
+a2715686d14e7e33467f05038babc481617dbe48	[Rapidly progressing facio-scapulo-humero-femoro-peroneal @DISEASE$ with @PHENOTYPICFEATURE$].	false
+922c4749182124bc58eb458e1ff27fb9ba5112db	@PHENOTYPICFEATURE$ and ophthalmoplegia may occur early in epidermolysis bullosa simplex associated with @DISEASE$ and aid in diagnosis.	false
+27bd051caa824fb980d379af1f7420b4d9f4fa1c	Primary conditions causing deformity were: spina bifida, @PHENOTYPICFEATURE$, poliomyelitis, trauma and @DISEASE$.	false
+8e4e7150daf969efa2b6c94813567a4c6b2cf6cd	Management of @PHENOTYPICFEATURE$ in Duchenne's pseudohypertrophic @DISEASE$.	false
+581e23e0e8870d2bf6bc87082b455792ad1165de	Preoperative and postoperative dynamic gait electromyography (EMG) weas performed on 15 patients 8 to 13 year of age with Duchenne's @DISEASE$ who underwent Achilles tendon lengthening and posterior tibial tendon transfer anteriorly through the interosseous ligament for correction of equinus and equinovarus @PHENOTYPICFEATURE$.	false
+9a07b8ad1b60071f419580c36320b283df4c0859	Preoperative and postoperative dynamic gait electromyography (EMG) weas performed on 15 patients 8 to 13 year of age with Duchenne's @DISEASE$ who underwent Achilles tendon lengthening and posterior tibial tendon transfer anteriorly through the interosseous ligament for correction of equinus and @PHENOTYPICFEATURE$ foot deformities.	false
+4527e9c52f3568b4f6702ae32b67a2a87d7e993e	@PHENOTYPICFEATURE$ is found in many inherited forms of @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+d596969f269d4c23778a4249e01411e63a6cb9ee	@PHENOTYPICFEATURE$ and ophthalmoplegia associated with epidermolysis bullosa simplex-@DISEASE$.	false
+289ade891e41c402d03bf12132dd759ca79d6349	After connatal @PHENOTYPICFEATURE$ with or without involvement of other bulbar muscles the different types of @DISEASE$ are mentioned.	false
+eab4dbcb57a3158b70489219bdcbeb3bf39022a2	In a series of 6 patients with epidermolysis bullosa simplex associated with @DISEASE$, 3 demonstrated @PHENOTYPICFEATURE$, ophthalmoplegia, or both.	false
+b8b7333f088b910ab490ddd066fedf19290d9c86	Automatic detection of @DISEASE$ @PHENOTYPICFEATURE$: toward a monitoring device.	false
+fb18fb9547bf9e92536177d1a966866bb83de585	Inborn errors of CACNA1A-encoded P/Q-type calcium channels impair synaptic transmission, producing early and lifelong neurological deficits, including @DISEASE$, @PHENOTYPICFEATURE$ and dystonia.	false
+8c1d5ec7e994b0fd5b97d8b49ec8c97c0bce81b8	Patients with @DISEASE$ (CAE) often demonstrate impaired interictal attention, even with control of their @PHENOTYPICFEATURE$.	false
+9d483ba300e2116162cf31cd97e286baf87bcf1c	Absences are one of the most often seen type of @PHENOTYPICFEATURE$ in the first and second decade and the prominent feature in infantile, juvenile and @DISEASE$.	false
+fbeb938ccaa264adb9c3c59876ecc87be84ec90b	A 4?-year-old girl with @DISEASE$ and global developmental delay was treated with different antiepileptic drugs and ketogenic diet but failed to become @PHENOTYPICFEATURE$ free over a 2-year period.	false
+89d3da82d385e16a93e62f510053ce0c9e29c90b	@DISEASE$ (CAE) is a common pediatric epilepsy syndrome with distinct @PHENOTYPICFEATURE$ semiology, electroencephalography (EEG) features, and treatment.	false
+669ee45d6e0b654b50fa2f5852fce4406d4aeebe	@DISEASE$ is an epilepsy syndrome responding relatively well to the ketogenic diet with one-third of patients becoming @PHENOTYPICFEATURE$-free.	false
+c2f2f315d4c8e60ea576bf3c657473295b111ff4	However, for @DISEASE$, a nonconvulsive type of epilepsy, direct evidence for corticosteroid @PHENOTYPICFEATURE$ modulation is lacking.	false
+5696999194a70ee048e54ec35112a42b0283f7ce	patients with @DISEASE$ (CAE), 11 (18.6%) with juvenile absence epilepsy (JAE), 10 (16.9%) with isolated primary GTC @PHENOTYPICFEATURE$, and 17 (28.8%)	false
+e85da40850c3c3bc34fcab4b6db1a8f1b5f0ac62	@DISEASE$ (CAE) is an epilepsy syndrome with @PHENOTYPICFEATURE$ occurring in the early childhood, highlighting that seizures susceptibility in CAE is dependent on brain development.	false
+98cc9c3deec6b24d187ddc77f69bffea9c8c206a	@DISEASE$ (CAE) is an epilepsy syndrome with seizures occurring in the early childhood, highlighting that @PHENOTYPICFEATURE$ susceptibility in CAE is dependent on brain development.	false
+7036b870d87c014289b6ae32b555bfe62ff3efbc	In most cases of @DISEASE$ there is an underlying genetic disorder that leads to overproduction of interleukin-1? (IL-1?); therefore, typical symptoms include inflammation reactions, such as repeated skin rash, fatigue, @PHENOTYPICFEATURE$, joint pain and conjunctivitis.	false
+502055891da70d15e9adeaf1fed3c9c4fad2e2a6	We report a child born to a mother with poorly controlled PKU and suggest that the @PHENOTYPICFEATURE$ seen in this child could be part of the specturn of @DISEASE$ embryopathy.	false
+7bdb4f0503ac3eeb9fba71bdd46c552b1577e512	[@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+6ea440f1e306d21dfc4acb9e7f08d458d51b6b49	@PHENOTYPICFEATURE$ in @DISEASE$: a nerve biopsy study.	false
+cdaaa0743e97b886b4d8ea80454a4a6bb4137d86	A literature review has been done on Medline with the following keywords: neuromuscular disease, @PHENOTYPICFEATURE$, myopathy, fatigue assessment, exercise intolerance, force assessment, fatigue scale and questionnaire, then with the terms: Fatigue Severity Scale, Chalder Fatigue Scale, Fatigue Questionnaire, Piper Fatigue Scale, electromyography and the combination of the word Fatigue with the following terms: Amyotrophic Lateral Sclerosis (ALS), Post-Polio Syndrome (PPS), Guillain-Barre Syndrome, Immune Neuropathy, Charcot-Marie-Tooth Disease, Myasthenia Gravis (MG), Metabolic Myopathy, Mitochondrial Myopathy, Muscular Dystrophy, Facioscapulohumeral Dystrophy, @DISEASE$.	false
+a6b5208cfd8bfc98fd204c7a8133469fff5b7ebe	@PHENOTYPICFEATURE$ is linked to a severe form of @DISEASE$ in transgenic mice.	false
+422d41f6eab05eeba2b892cba332ce107a167e58	@PHENOTYPICFEATURE$ was investigated in thirty-one patients with @DISEASE$ (MyD) and sixteen relatives.	false
+b965779984f1e2e02ba3d83e4505f82975755745	@PHENOTYPICFEATURE$ in @DISEASE$: electrophysiological and clinical features.	false
+7841b2d61de4529e9d7a65ec3728a252552db124	Association of @PHENOTYPICFEATURE$ with sleep-related breathing disorders in @DISEASE$.	false
+96f2c7048ea549e20ac05c94d73ad9705635dc43	@DISEASE$ are strongly associated with @PHENOTYPICFEATURE$.	false
+f8b0a62a7c171cbb405967b01593ecf7f29b4bc0	Accordingly, we studied nonspecific CBs found in the muscle biopsies of 15 patients with the following diseases: @PHENOTYPICFEATURE$ (n = 5), polymyositis (n = 3), @DISEASE$ (n = 2), sarcoidosis (n = 1), inclusion body myositis (n = 1), hereditary inclusion body myopathy (n = 1), hypothyroidism (n = 1), and muscle atrophy in a patient with multiple brain infarctions (n = 1).	false
+97819c58f3d51cbbc3d9ad0b65e72e7e181df7e0	Moreover the ARP was modified in 2/9 patients with Steinert's @DISEASE$ without clinical or electrophysiological signs of @PHENOTYPICFEATURE$.	false
+ca649fe2a5290f1425de4fbcee85307b082cad91	@DISEASE$ of @PHENOTYPICFEATURE$, joint hypermobility, genital anomaly and short stature.	false
+32672dccfe6bc02a30d1472191f40ce23bf87d16	We report on @DISEASE$ in male dizygotic twins with an identical de novo @PHENOTYPICFEATURE$ in FGD1 that resulted from germline mosaicism in the phenotypically normal mother.	false
+1fe8b20a78307d1d6fcd55c15b75b103c4a803f1	In this report we document the concurrence of a large omphalocoele and @PHENOTYPICFEATURE$ in a female newborn with EEC syndrome (Ectodermal dysplasia-@DISEASE$-Cleft palate).	false
+2456517001e20ba2fb3517e2bef63cd1fc7fd8b2	The deficiency in @DISEASE$ patients can also be accompanied by other distal limb anomalies including @PHENOTYPICFEATURE$ and/or syndactyly.	false
+6cd19c09008b919900e1ed39554abb5790a83414	Greig cephalopolysyndactyly syndrome (@DISEASE$) is an autosomal dominant disorder with polydactyly and @PHENOTYPICFEATURE$ of the limbs and a broad spectrum of craniofacial abnormalities.	false
+b0b9fa9e6ca9d79da8050878c0102e858a42bd46	@DISEASE$ (GCPS) is an autosomal dominant disorder with polydactyly and @PHENOTYPICFEATURE$ of the limbs and a broad spectrum of craniofacial abnormalities.	false
+809516a444f44b77d54237234d6df7da64dc513d	Thus, this boy combined the @PHENOTYPICFEATURE$-macrocephaly phenotype of @DISEASE$ with a severe form of spondyloepiphyseal dysplasia caused by the structural defect in type II collagen.	false
+3e2c907e5d9d5b502d304ef4522518e9855c7468	involving three chromosomes in a 7-year-old boy with severe psychomotor retardation, neonatal muscular @PHENOTYPICFEATURE$, congenital heart defect, polysyndactyly of hands and feet, and dysmorphic features resembling @DISEASE$.	false
+79f1c51ddd0d29d066d83db05c10a400e4f3ee55	We present two families, with @DISEASE$ with a non-syndromic phenotype, without the characteristic craniofacial anomalies and with the presence of complex digital anomalies including various types of polydactyly and @PHENOTYPICFEATURE$ of the fingers and toes.	false
+42a1a60b2e981fc80370d1718048a6d50581676a	Our results also show a correlation between the location of the mutation and @PHENOTYPICFEATURE$ observed in some patients with @DISEASE$.	false
+21a3d01dd8e9b9067f9015df845a00be89bdb097	The @DISEASE$ in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and @PHENOTYPICFEATURE$ of fingers and toes.	false
+a9d55d09ad3fbe1525fddb3050c6f18e6a4073c4	In advanced @DISEASE$, concomitant radiotherapy with cisplatin and/or cetuximab is frequently combined with cisplatin-based induction chemotherapy, which can cause severe hypomagnesemia, @PHENOTYPICFEATURE$, and hypokalemia.	false
+c4d81855f03444350ade738359610cdec5860b43	To see whether the karyotypic features of @DISEASE$ differ depending on exact tumor site, we added to the present series our previously published 23 karyotypically @PHENOTYPICFEATURE$ and neck squamous cell carcinomas that had been cultured in the same way as the tumors of the present series.	false
+d618b27353d1fee6199ca1506dc28427827a4220	@DISEASE$ (HNSCC) is a multistage process during which adverse genetic alterations accumulate resulting in loss of cell cycle control, selective cell @PHENOTYPICFEATURE$, and ultimately formation of malignancy.	false
+ff78be23874a568bb08e552641b46e9528196852	Body mass index (BMI), sarcopenia, and @PHENOTYPICFEATURE$-related comorbidities have been associated with @DISEASE$ (HNSCC) progression.	false
+2fccb1ec32ced574437be8b01e7e446f4ccb0707	Previous studies examining the association of body mass index (BMI) with risk of and survival from @DISEASE$ (HNSCC) have been inconsistent, although an inverse association has been noted for @PHENOTYPICFEATURE$ and risk of HNSCC in several studies.	false
+f0879b386c20442d39681dc71399f33cdb8736ed	MFAP2 has been reported to play a significant role in @PHENOTYPICFEATURE$, diabetes, and osteopenia, and has been shown to be upregulated in @DISEASE$.	false
+819df9bf16a4c5f1d1af14f699fdda701bc5c9be	The prognostic role of @PHENOTYPICFEATURE$ in @DISEASE$ (HNSCC) is not well defined.	false
+3aa050f9730bfb04b69a7da210b94324b567a419	In contrast, secondary CoQ10 deficiencies, due to mutations in genes not directly related to ubiquinone biosynthesis (APTX, ETFDH, and BRAF), have been identified in patients with @PHENOTYPICFEATURE$, pure myopathy, and @DISEASE$.	false
+8e3ed0c6618232ef84df03dc73bd69f5f0164edf	They then evaluated the effects of 8 weeks of treadmill training in Tx mice that received @DISEASE$ or BCD + clenbuterol, a monoaminergic agent with anabolic properties, on locomotor function, @PHENOTYPICFEATURE$, adipose tissue loss, and bone density measures.	false
+d714904dc0e159ff83c094b2005391d00f73d3cc	The physiology of the epidermis is maintained by a balance of protease and antiprotease activities, as illustrated by the rare genetic skin disease @DISEASE$ (NS), in which impaired inhibition of serine proteases causes severe skin @PHENOTYPICFEATURE$ and scaling.	false
+a2696164180b438876e29c2834caf09b9507e301	We confirmed that @DISEASE$ and KID syndrome patients have a higher risk of allergy to food or environmental allergens and of @PHENOTYPICFEATURE$, respectively.	false
+a6715335eb9da19ebfe34dc52707b4a377663363	We examined the compartmentalization of bioactive @PHENOTYPICFEATURE$ necrosis factor (TNF) and interleukin 6 (IL-6) to the subarachnoid space and systemic circulation in patients with @DISEASE$ and septic shock/bacteraemia.	false
+16be88dc27d7c5b22478b9c35839c99c66842e42	@DISEASE$ results in a severe early onset epileptic encephalopathy with development arrest, neurologic deterioration, drug-resistant seizures, movement disorders, @PHENOTYPICFEATURE$, and autistic-like behavior.	false
+31d101cc2848940ac07e5a72066d2fbe0b837795	Rheumatologists should be aware of the possibility that Rhupus may be accompanied by progressive or life-threatening conditions such as APS, severe @DISEASE$ with digital ulcers, pulmonary @PHENOTYPICFEATURE$, or malignancies.	false
+15ff03695656cde3defac7bd8adbc91d8362101d	Eight patients had @DISEASE$ or @PHENOTYPICFEATURE$.	false
+71d2116fe72ae74252b96948a3fa28ad4dd6b1bb	3) Propranolol (bradycardia, chest pain, hypotension, worsening of AV conduction disturbance, @DISEASE$, mental depression, @PHENOTYPICFEATURE$, etc.).	false
+58c4bc51dc0118f6b06630f32e6799a834da1cdf	With respect to the antihypertensive differential therapy the author recommends CCBs based on studies with the evidence grade 1-3; especially for elderly hypertensives (with isolated systolic neuhypertension and a high risk of stroke), for patients with COPD and asthma bronchiale, @DISEASE$ or Prinzmetal-angina, patients with diastolic function disturbances including diastolic heart failure or @PHENOTYPICFEATURE$ with massive left ventricular hypertrophy (in combination with ACE or AT1 inhibitors).	false
+7b9d632dd0913d4c5fe0b11125574119eb48108f	Associated autoimmune diseases include rheumatoid arthritis, @DISEASE$, idiopathic thrombocytopenic purpura, and systemic lupus @PHENOTYPICFEATURE$.	false
+59090b54d42574ddc0a148103aa992152bbaed9b	CSB or @DISEASE$ can cause the severe congenital cerebro-oculofacioskeletal (COFS) CS-like syndrome with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+e3b71662aeae4d31f8b79a1b4d957701da3e4cd5	Interaction of MEF2C with the deleted @PHENOTYPICFEATURE$ (FEB4) and juveline myoclonic epilepsy (EJM4) loci plus the G-protein receptor (GPR98/MASS1/@DISEASE$) gene may moderate the phenotype, perhaps through common regulation by calcium.	false
+cd4a21f060a277c41be1c5f25365ec0f5e8c6256	All pediatric cochlear implantation recipients with Waardenburg syndrome, @DISEASE$, Dandy-Walker syndrome, or @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+cffe5818f7990f60088560867e76be75b38057ff	The relationship between visual @PHENOTYPICFEATURE$ and visual scores in patients with @DISEASE$.	false
+647a0ecb89bf7c74284972d8cb47c1b5474b5a47	He had @PHENOTYPICFEATURE$, triplegia, epilepsy, @DISEASE$, and chronic renal failure.	false
+ab45020ab63f63b475063d005cf85ce8dda2b55f	[A case of spinocerebellar ataxia with @DISEASE$, deafness, @PHENOTYPICFEATURE$ and EEG abnormality (author's transl)].	false
+7655fe7b56a0fc4fdbe33575b916e16091233d0f	[A case of spinocerebellar @PHENOTYPICFEATURE$ with @DISEASE$, deafness, seizure and EEG abnormality (author's transl)].	false
+c7cd8589c45a4f0a78bdaff1b1e4ce7c798d0bb8	@DISEASE$, mental retardation, marked short stature, and @PHENOTYPICFEATURE$ in two sibs.	false
+b4fe41f45e00e87ea0b827e4108bfa0d87de7357	A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, @PHENOTYPICFEATURE$, seizures, cataracts, @DISEASE$, mental deterioration, and hypothyroidism.	false
+2523eac466e8edb2b55b605deacc2c2b851e5371	A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, ataxia, seizures, cataracts, @DISEASE$, @PHENOTYPICFEATURE$, and hypothyroidism.	false
+9b5f1d8b85c2c0ac9bf93c133e99e45118fc8d68	A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, ataxia, @PHENOTYPICFEATURE$, cataracts, @DISEASE$, mental deterioration, and hypothyroidism.	false
+0ae35cd9734d5689121fd6edd1eca17f11b15d7c	@PHENOTYPICFEATURE$ in Italian patients with @DISEASE$.	false
+7cefeea32550f2d42d992cd8f9ba5c65350b6296	@DISEASE$, metaphyseal chondrodysplasia, and @PHENOTYPICFEATURE$: an affected brother and sister.	false
+c106f3270dd691958e3f2dcdc248f7d64bbb3e0c	poly or @PHENOTYPICFEATURE$, mental retardation, obesity, hypogenitalism and @DISEASE$.	false
+76c1ef0f7837d2a09974658e1216eb739b151877	@PHENOTYPICFEATURE$ in patients with @DISEASE$: prevalence on OCT examination and outcomes of vitreoretinal surgery.	false
+e687391f9e4f37c0469a1e3d7c55d0160e910610	We present two siblings with @DISEASE$, mental retardation, markedly short stature, and @PHENOTYPICFEATURE$.	false
+2d3b0b22a714213e0ef2d2affb0fd03ee8b9fba2	Acrodysostosis is characterized by nasal hypoplasia, @DISEASE$, variable short stature, and @PHENOTYPICFEATURE$.	false
+137a7e35adf99dfc9a6055a15711dedaf8cc4700	Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the @DISEASE$, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, @PHENOTYPICFEATURE$, and a severe degree of mental retardation.	false
+69a570e3328eb84c81b3fc34b9b536f63043e1de	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having @DISEASE$, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of @PHENOTYPICFEATURE$.	false
+2ef1c36aae89c0c78de094199f3f97142cb98613	We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic @PHENOTYPICFEATURE$, diagnosed at birth as having @DISEASE$, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia.	false
+b48799d75c906d37873f7ba0b41008203ad2e81a	@DISEASE$ (PTHS) is a rare developmental disorder associated with severe mental retardation, @PHENOTYPICFEATURE$, and intermittent hyperventilation.	false
+b2f50a8727fdc7081e40c57a2e539b6c4dbfde6d	The deletion of the transcription factor 4 gene suggested a possible contribution of the deletion to the patient's @PHENOTYPICFEATURE$, as observed in @DISEASE$.	false
+d6157e27ce43b9e727b59bb1c069d26092aaa50d	Comorbidities are common in CCMs, especially ophthalmological issues in cerebellar hypoplasia and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+966863302076785b960f895284aeb64fc2936b57	The most common ophthalmologic and radiologic abnormalities were @PHENOTYPICFEATURE$, retinal detachment, periventricular white matter abnormalities, ventriculomegaly, @DISEASE$, and multiple cerebellar cysts.	false
+418117eccb46bf168924c663d626a8ee33ad7acb	On the basis of these anatomic findings, pathologic changes such as lymphoma, @DISEASE$, metastatic lesions, dilated vessels, and @PHENOTYPICFEATURE$ could be detected in 15 patients.	false
+efa95b6b4cee322cfdc86361e0b6165cb15b9dc0	Economic Impact of Centralized Histological Reviews in Patients with @PHENOTYPICFEATURE$, Gist, and @DISEASE$.	false
+5e8538117405b52d300d7afca665cea6ef6c605a	Among 12 patients with local and distant control, one patient (who had multiple wide resections of an extensive @DISEASE$ preceding irradiation) lost over 50% use of her limb, but no patients required amputation for @PHENOTYPICFEATURE$ or pain control.	false
+f19ddbde732554499319fa09e896d7cab0278dca	The most common ones are lymphoma, well-differentiated liposarcoma, peritoneal carcinomatosis, carcinoid tumor, retroperitoneal fibrosis, lipoma, mesenteric @DISEASE$, mesenteric inflammatory pseudotumor, mesenteric fibromatosis and mesenteric @PHENOTYPICFEATURE$.	false
+a8aa73bc0bbc996e23ad55f19fafe895fcef7a21	This pathway has been extensively investigated as its deregulation is linked to different diseases, including various types of cancer, skeletal defects, birth defect disorders (including @PHENOTYPICFEATURE$), metabolic diseases, neurodegenerative disorders and several fibrotic diseases like @DISEASE$.	false
+e27db3c77a276b0e3514e5c597902d54b05f38dd	CT plays an important role in suggesting the diagnosis in the proper clinical setting and can be useful in distinguishing sclerosing mesenteritis from other mesenteric diseases with similar CT features such as carcinomatosis, carcinoid tumor, lymphoma, @DISEASE$, and mesenteric @PHENOTYPICFEATURE$.	false
+ad1e18bd1b6c1b1f30dd3acefb36f67e065ceeed	We present a case of @DISEASE$ with uncommon clinical manifestations including alopecia areata, eyebrow @PHENOTYPICFEATURE$, flat nose, reticular pigmentation, and short sharpened distal phalanges with fingernails that were wider than they were long.	false
+9084edcc2f4580c507fcc1a8aac6f79f83502cb0	Rehabilitation and treatment by movement of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+bfff95a941dea648c4c9dacd315be9efd7a2260e	Low serum creatine kinase activity is associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+7624f83e5f82567dd427bb6f82f21986013de21f	In rare cases, @PHENOTYPICFEATURE$ is associated with systemic disease such as ankylosing spondylitis, @DISEASE$, and psoriasis.	false
+0b7652270c6e1ecb6e4094e4b6f681f4803725ee	The causes of shoulder subluxation include @DISEASE$ and previous injury, but subluxation may be no more than a reflection of the aging process, lax musculature, or an intrinsic mild @PHENOTYPICFEATURE$ structure.	false
+8274a2502d144c38d41afe9c9541fd3b649c768f	Ability of foot radiographs to predict @DISEASE$ in patients with early @PHENOTYPICFEATURE$.	false
+a87b47e7584f0fb0dd3d3f4f44eeeb2511dc5397	Treatment delays for patients with new-onset @DISEASE$ presenting to an Australian early @PHENOTYPICFEATURE$ clinic.	false
+c7cffd7218f99ed05bbb746ab27eca6a6d3dcdfa	In the patient with @DISEASE$, muscle weakness and @PHENOTYPICFEATURE$ and deformity develop, despite the most carefully directed programs of medical care.	false
+21087a8dfc6e85d228b61e11262af6e072a87c5f	In the patient with @DISEASE$, @PHENOTYPICFEATURE$ and joint contracture and deformity develop, despite the most carefully directed programs of medical care.	false
+1e9a62acddfa74d4f976596d7e6938d94ee3ecef	@DISEASE$ and cancer @PHENOTYPICFEATURE$.	false
+aeadadfcd29d165c1824bb5be6e999b99e511da6	Role of erosions typical of rheumatoid arthritis in the 2010 ACR/EULAR @DISEASE$ classification criteria: results from a very early @PHENOTYPICFEATURE$ cohort.	false
+d6747e044bd49dcf9cd6f84632894f0bd1a47f0e	Role of erosions typical of @DISEASE$ in the 2010 ACR/EULAR rheumatoid arthritis classification criteria: results from a very early @PHENOTYPICFEATURE$ cohort.	false
+831b420e4fed03382b5723bed05d70eb2cdeb5ad	[Prevention and therapy of @PHENOTYPICFEATURE$, deviations and deformations in @DISEASE$].	false
+ab978fa6b1d04e1dd5d3dd1bd90103f2fd33c101	@DISEASE$ (LI) is an autosomal recessive disorder rarely associated with systemic organ involvement and development of @PHENOTYPICFEATURE$.	false
+42f0c00d2e1f834d9c0e4af54316432bf0497bc8	TTD phenotype has greatly varied from very subtle forms to severe alterations such as @PHENOTYPICFEATURE$, blindness, @DISEASE$ and gonadal malformations.	false
+ffd28190e43834451847ceae214fd36f2a4ddbe4	To describe the clinical and radiologic findings in a case of @DISEASE$-like syndrome and discuss management of hearing loss, congenital external auditory canal (EAC) stenosis, and EAC @PHENOTYPICFEATURE$.	false
+6131ebbbf2d2f668689a0a1ff8bfaf8edf455466	To investigate the use of peripapillary optical coherence tomography for monitoring @PHENOTYPICFEATURE$ in pediatric @DISEASE$.	false
+5ebda1557d54ae3c35dfaef8a26ff0e2d17889fc	@PHENOTYPICFEATURE$ in pediatric @DISEASE$ patients treated with radiation therapy.	false
+0be44179321b81c7e8b9fe7da128eadd2d703ef5	Patients with @DISEASE$ treated with RT have a high prevalence of stroke and @PHENOTYPICFEATURE$, particularly those with low HDL and longer duration of time since RT.	false
+fc5acc7bbe01dc61fe1861ddda035e41b499cd23	Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause @DISEASE$ type Maroteux, a skeletal dysplasia with extremely @PHENOTYPICFEATURE$.	false
+489991800d8991ef4f0a6c892ad4bb1edcac83fe	Based on the stature observed in relatives of patients with @DISEASE$, type Maroteaux, homozygous for mutations in natriuretic peptide receptor B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some children with idiopathic @PHENOTYPICFEATURE$ (ISS).	false
+c3e241660687584cd02f756b4eaa35ab716221fa	We report a family with a unique combination of radiological manifestations of @DISEASE$ and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital @PHENOTYPICFEATURE$ in four generations.	false
+f7dae576da3fb8b4076b3ef1592549ba3da7d5c6	Homozygous and/or heterozygous loss of function mutations in the natriuretic peptide receptor B (NPR2) have been reported in causing @DISEASE$, type Maroteaux with variable clinical features and idiopathic @PHENOTYPICFEATURE$ with nonspecific skeletal deformities.	false
+4e678b96de89de259318ea6b93a981480a81fa7c	@DISEASE$ is genetically heterogeneous group of skeletal disorders characterized by @PHENOTYPICFEATURE$ and acromelia and mesomelia of limbs.	false
+274909a86db3d60000ee2e2d98853835f186319e	It is suspected that sudden nocturnal death in @DISEASE$ patients is caused not only by abnormal respiration resulting from impairment of the respiratory center, but also by glottic obstruction caused by sputum or by @PHENOTYPICFEATURE$ of the vocal folds.	false
+1f76fd455a68544ca3267e01910a93066a787690	Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and @PHENOTYPICFEATURE$, and subdivided in @DISEASE$ I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1.	false
+c0de8cd75e69858ee494886c75bcbb499f8d4729	Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and @PHENOTYPICFEATURE$, and subdivided in TRPS I, caused by mutations in TRPS1, and @DISEASE$ II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1.	false
+890f879dd67ecae1f3acc9d88ce223c4aea0486a	Tricho-rhino-phalangeal syndrome (@DISEASE$) is characterized by craniofacial and @PHENOTYPICFEATURE$, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1.	false
+2ebfda791f18d1abeb4f0d784cd6cc30854e66fe	Trichorhinophalangeal syndrome (@DISEASE$) is characterized by its unique facial features and @PHENOTYPICFEATURE$.	false
+90dcc172af50cadb0ddd06142b7db8c9341ef8b3	@DISEASE$ (TRPS) is characterized by its unique facial features and @PHENOTYPICFEATURE$.	false
+6953e4d47c231223e2c04ce15947ff8098de2dbe	Type 1 Trichorhinophalangeal syndrome (@DISEASE$) is characterized by typical facial and @PHENOTYPICFEATURE$.	false
+48ff66810226c987846c7744a0939d0c523170d4	Type 1 @DISEASE$ (TRPS) is characterized by typical facial and @PHENOTYPICFEATURE$.	false
+b26e8f4c192924fc6e7d825e2eae928b44a4b679	@DISEASE$ (TRPS) is a rare genetic disorder with typical craniofacial and @PHENOTYPICFEATURE$.	false
+d4a9f8fd9078b463f7749d8bdf8204ef867cf473	Trichorhinophalangeal syndrome (@DISEASE$) is a rare genetic disorder with typical craniofacial and @PHENOTYPICFEATURE$.	false
+170c86ff03626554f5ddec0f64e4d8e9af69258b	The @DISEASE$ I is characterized by variable clinical expression of the triad of hair, craniofacial, and @PHENOTYPICFEATURE$.	false
+ef85b9836000ddc9f316d9a06250799a095f2bd9	@DISEASE$ (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and @PHENOTYPICFEATURE$.	false
+2ce4fe54f8db9015adbfcd6044be666207934667	Trichorhinophalangeal syndrome (@DISEASE$) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and @PHENOTYPICFEATURE$.	false
+dc1b4a8717d5d56b4f7e57c5019dc15e69c70a6f	Tricho-rhino-phalangeal syndrome (@DISEASE$) is characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+1d145c70367ec0f5d15a0530a54864621a28295b	Type I @DISEASE$ is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as @PHENOTYPICFEATURE$.	false
+2944def4742d4b0168dee75033092d1d4cd8a374	@DISEASE$ (TRPS) is a rare, autosomal dominant malformation syndrome characterized by hair, craniofacial and @PHENOTYPICFEATURE$, skin laxity, deformation of phalanges and anomalies of pelvis, femurs, and tibias.	false
+06e2f77e1dc274697e1052e318b06c964a41da22	Trichorhinophalangeal syndrome (@DISEASE$) is a rare, autosomal dominant malformation syndrome characterized by hair, craniofacial and @PHENOTYPICFEATURE$, skin laxity, deformation of phalanges and anomalies of pelvis, femurs, and tibias.	false
+20936d31d1b8eae98b4e77219c5e6eb3b35aba93	@DISEASE$ (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and @PHENOTYPICFEATURE$.	false
+c7da324f42e8e96f4264de54f7de6f5b9d6a6f14	Trichorhinophalangeal syndrome (@DISEASE$) is the collective name of three rare congenital conditions characterised by craniofacial and @PHENOTYPICFEATURE$.	false
+39d2d225c76ecd25d285735021d8cdb47121fa1f	A 55-year-old woman presented with @PHENOTYPICFEATURE$ and type B symptoms and was diagnosed with @DISEASE$.	false
+611dc98a4c290c795d59bfadf9a4ffab1002b3a0	The fourth patient with relapsed @DISEASE$ died because of severe bilateral @PHENOTYPICFEATURE$, caused by pseudomonas and candida, despite receiving appropriate antibiotics.	false
+46d25a7b2a682f860ddb30a5b1128a6082a74317	The most common significant side effects observed with @DISEASE$ were altered taste (39%) and @PHENOTYPICFEATURE$ (19%).	false
+d6ff788e613f5c7520cf73ad9121295c870db778	Patients with @DISEASE$ could be asymptomatic or may present with @PHENOTYPICFEATURE$, obstruction, diarrhea, or gastrointestinal bleeding.	false
+a7038346f953f8caab3b73919c36744e86db34c9	The number of AEs significantly associated with @DISEASE$ increased with increasing dose: one at 200 mg/day (dizziness); six at 400 mg/day (dizziness, vertigo, abnormal coordination, abnormal vision, nausea, and vomiting); nine at 600 mg/day (dizziness, vertigo, ataxia, balance disorder, diplopia, fatigue, nausea, @PHENOTYPICFEATURE$, and tremor).	false
+f69cffe9257054a5486ddda3a53eb1ebe5b34ff0	The number of AEs significantly associated with @DISEASE$ increased with increasing dose: one at 200 mg/day (dizziness); six at 400 mg/day (dizziness, vertigo, abnormal coordination, abnormal vision, @PHENOTYPICFEATURE$); nine at 600 mg/day (dizziness, vertigo, ataxia, balance disorder, diplopia, fatigue, nausea, vomiting, and tremor).	false
+605b70788472d75a1c3a3f86908d4b7f80869cd9	The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, @DISEASE$, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 @PHENOTYPICFEATURE$).	false
+ec3588fee0e0d43f96b239419c50a6cea55a6439	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, @DISEASE$, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and glycogen storage disease type III.	false
+ca65236c0b27353fcad5c42b101a36ed19c82811	Features of @DISEASE$ (FA) are well known, including bone marrow failure, congenital anomalies such as radial anomalies, renal and @PHENOTYPICFEATURE$, tracheo-esophageal fistula, imperforate anus, and elevated risk for cancer.	false
+f0856a8be53e7960f1d4496541e023832c85937f	The aim of the study was evaluation of kind and frequency of @PHENOTYPICFEATURE$ in patients with familial adenomatous polyposis (FAP) and @DISEASE$ (HNPCC), and analysis of dento-osseus abnormalities on panoramic views.	false
+1fdf6e1c28038216eef6fb74ca6148f9ac7f8da4	After adjusting for all covariates, subjects with @DISEASE$ had @PHENOTYPICFEATURE$ 1.6 times more than subjects without TMD.	false
+42c04bab297b1afb97e5ff82d13cb8abeb297e6e	After adjusting for all covariates, subjects with TMD had @PHENOTYPICFEATURE$ 1.6 times more than subjects without @DISEASE$.	false
+22b062931b86a6140bfe3eed6b9a2fa2c519f62e	Associations between @PHENOTYPICFEATURE$ and CSD or @DISEASE$ were expressed as odds ratios.	false
+a444c76706b42c8c667b7add5381988b26213075	Dysregulated psychophysiologic interactions may affect the development of @PHENOTYPICFEATURE$ in patients with chronic @DISEASE$.	false
+a341c500f452a9c51ee0d7a49f6ea3bb9d53bdc2	Any correlation patterns were shown between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+21dec4eaa5b1f6e8eea43f1fdaf7414ed237db1c	A relationship between @PHENOTYPICFEATURE$ and @DISEASE$ was established in both examinations.	false
+c8566f6b798190708b18de71d3846b53469b8432	There is weak evidence for an association between subjective @PHENOTYPICFEATURE$ and CSD and a bidirectional association between tinnitus and @DISEASE$.	false
+1725b5933a9bf82d6b653026e078bba11682d693	There is weak evidence for an association between subjective tinnitus and CSD and a bidirectional association between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8b352b34b540f806b9c04d5a22fadccb2d1ea5af	The finding that @PHENOTYPICFEATURE$ is more common in patients with @DISEASE$ means that it can be regarded as a comorbidity to TMD.	false
+2371810f54f4a05977810abe600866715804ca91	The finding that @PHENOTYPICFEATURE$ is more common in patients with TMD means that it can be regarded as a comorbidity to @DISEASE$.	false
+5976649abebcc8c448b3f9e082d9763a8773555d	TMD alone and both dental pain and @DISEASE$ were associated with @PHENOTYPICFEATURE$ (OR?=?1.389 and 95% CI 1.054-1.832	false
+4939d48b464019e571b3ae27d7f97a8e3d5c6de8	@DISEASE$ alone and both dental pain and TMD were associated with @PHENOTYPICFEATURE$ (OR?=?1.389 and 95% CI 1.054-1.832	false
+51411723c201a33c8206df4aafcd6928dfa8b767	The presence of painful @DISEASE$ without SB was significantly associated with @PHENOTYPICFEATURE$ (OR=6.7;	false
+6ee6e09f49db46759cf7e8b59945c3ab80a6ab14	The results showed an association between painful @DISEASE$ and @PHENOTYPICFEATURE$ (OR=7.3;	false
+f4ce59156ee983c7340a0c0a4508caf59abe0afc	Situs inversus is associated with other congenital malformations including splenic malformations, left-sided liver and @PHENOTYPICFEATURE$; it is rarely associated with @DISEASE$.	false
+331b7675888dcc12d95d3901db34a5c7d52ac15d	More recently, cases of TA have been reported with associated anomalies described as TACRD (tracheal agenesis/atresia, complex congenital @PHENOTYPICFEATURE$, radial ray defects, and @DISEASE$) association/syndrome.	false
+2a1df67c5ea4b7832f476ed7c9cfd50ff457506e	Antenatal diagnosis of @DISEASE$ in dizygotic twins associated with congenital @PHENOTYPICFEATURE$.	false
+f0c2fcd563cccce1795b2b598b601be115c70b4e	@DISEASE$ (DA) is not uncommon, either as an isolated anomaly or associated with trisomy 21, malrotation, or @PHENOTYPICFEATURE$.	false
+8570831499892968b67733eaf7f06528dc1b6276	Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, @DISEASE$, @PHENOTYPICFEATURE$, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported.	false
+e2228f3e318e9a08554e8686a1cc2e1321ef32cd	Radial ray defects, renal ectopia, @DISEASE$ and @PHENOTYPICFEATURE$: the extended spectrum for Fanconi anaemia.	false
+5d475a8afc770c1f8c188b907781d0d9a54b2a4c	ULTRASOUND MARKERS AT 15-22 WEEKS OF PREGNANCY: There are a number of ultrasound markers of Down's syndrome at 15-22 weeks, including nuchal fold thickness, @PHENOTYPICFEATURE$, @DISEASE$, femur length, humerus length, pyelectasis, and hyperechogenic bowel.	false
+26090364d002e8b403a5224f9f4b3e77c0708c09	A 1-day-old female weighing 1.8 kg having @PHENOTYPICFEATURE$, lateral facial cleft, and bilateral microtia suggestive of Goldenhar syn- drome complicated with total anomalous pulmonary venous connection was scheduled for surgical repair of @DISEASE$.	false
+9aa261aa9918be551fb49aaf85bec33b747cbd8e	The influence of trisomy 21 on the incidence and severity of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+17802453280ae60ede0658780360fb8a01bbc456	However, the frequency and spectrum of @PHENOTYPICFEATURE$ in infants with @DISEASE$ and a normal karyotype has not been outlined in the literature.	false
+43e2594105cc9cb1671ae3d36b7e6ae3ced0fbba	Papillon Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder, which is characterized by palmar-@PHENOTYPICFEATURE$, periodontitis, and premature loss of dentition.	false
+0fabe0723b29a4790b00c7d575897364c267d5b9	Six Iranian patients with @DISEASE$ experienced premature tooth loss and palm @PHENOTYPICFEATURE$.	false
+dc10a3aac0c71f4a20fba809dd56ccbe0da23f0d	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder which is characterized by palmar-@PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+2c63c733d280a54b78343b372cba64a3646e1469	Papillon-Lef?vre syndrome (@DISEASE$) is a rare autosomal disorder characterized by severe periodontitis and palmar @PHENOTYPICFEATURE$ (PPK).	false
+4125a190e71b981e6f9ee2489e82ede39717c0a2	To analyse the microflora of subgingival plaque from patients with Papillon-Lef?vre syndrome (@DISEASE$), which is a very rare disease characterised by palmar-@PHENOTYPICFEATURE$ with precocious periodontal destruction.	false
+af21060d1db142737d072bc67057069951859e10	Papillon-lef?vre syndrome (@DISEASE$) is described as the association of palmar-@PHENOTYPICFEATURE$ with precocious periodontal disease which results in exfoliation of primary and permanent dentitions.	false
+1ac0db98b578f3ff798785f94b69e15107d4d78c	Papillon-Lefevre Syndrome (@DISEASE$) is a rare autosomal recessive genodermatosis characterized by palmar-@PHENOTYPICFEATURE$, and destructive periodontitis.	false
+9f1756633fa3a07af96d9c9dfe35759db39ef3dc	@DISEASE$ is characterized by the association between palmar @PHENOTYPICFEATURE$ (PPK) and severe precocious periodontitis that results in the premature loss of both the primary and secondary dentitions.	false
+4ec150322010c683b657d41cf7eba7d94d91f5a5	Papillon-Lefevre syndrome (@DISEASE$) is a very rare, autosomal recessive syndrome characterized by palmar-@PHENOTYPICFEATURE$ and severe destructive periodontitis.	false
+0601ee810ddf483d529e3aadb84cf60279943655	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by palmar- @PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+c8c9f1f76039877084a1681c99005e64d5cb448e	The clinical features include trichilemmomas, verrucose lesions of the skin, @PHENOTYPICFEATURE$, intellectual disability, cerebellar @DISEASE$, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps.	false
+585eeb0da6789849e178427d83ea1bf80772f0b9	This is the first report of a six-year follow-up of cyst formation of @DISEASE$ supporting the concept that @PHENOTYPICFEATURE$ is a precursor to central nervous system peritumoral cyst formation based on the similar observation of hemangioblastomas.	false
+8b0170b5d706b673660cc557e8f7b08d3617dc69	The present patient appeared to have an @DISEASE$ and Chiari 1 malformation with co-existing functional and behavioral disorders (i.e., @PHENOTYPICFEATURE$, mental retardation, and deviant electroencephalography [EEG]).	false
+133e5b37dbf834838e9e770a71482d1c8076cd82	@DISEASE$ is characterized by varying degrees of oculocutaneous @PHENOTYPICFEATURE$, recurrent infections, bleeding disorders and variable neurological involvement.	false
+140c9cf4bdda2701cd4022f5f9f76500640a7bc7	@DISEASE$ is characterized by oculocutaneous @PHENOTYPICFEATURE$, a bleeding tendency and severe recurrent infections.	false
+a24c4aab8c6975dc6e431079e03927ef4c1b383b	Chediak-Higashi syndrome (@DISEASE$) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis, and progressive neurologic deterioration.	false
+18e4685633ccbafe436f442b7f9490e439c0db35	@DISEASE$ (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis, and progressive neurologic deterioration.	false
+75821a986256e9c4457de04ce5276806674fcaa4	Chediak Higashi syndrome (@DISEASE$) is an autosomal-recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, recurrent infections and a progressive primary neurological disease.	false
+96ec497a77ff3dab12922b10581a006d0426f058	@DISEASE$ (CHS) is an autosomal-recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, recurrent infections and a progressive primary neurological disease.	false
+55c704a66bcb644674d6299763a503f8c132a0d9	Chediak-Higashi Syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by immunodeficiency, oculocutaneous @PHENOTYPICFEATURE$, neurological dysfunction, and early death.	false
+d009ef3dcb5c780a403b638679a6a557a34584bf	@DISEASE$ (CHS) is a rare autosomal recessive disease characterized by immunodeficiency, oculocutaneous @PHENOTYPICFEATURE$, neurological dysfunction, and early death.	false
+2ae9715dda2b8a6ca28a26612877c109d9a79b1c	Partial oculocutaneous @PHENOTYPICFEATURE$ in Mystromys albicaudatus: nonhomology with the @DISEASE$.	false
+52944f0a357e99aee7f99c57aa5d32876f71938f	Ocular melanin @PHENOTYPICFEATURE$ in cats, cattle, mink, and mice with @DISEASE$: histologic observations.	false
+78b35d892dea1e341904d453c3fa0ec6b433ddcf	Chediak-Higashi syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction.	false
+bf94d7317e9891bcb5bd68413da9a2a878b80932	@DISEASE$ (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction.	false
+318e32784deec70477adda8ab02c24599c48a0f0	There are seven forms of oculo-cutaneous @PHENOTYPICFEATURE$, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, @DISEASE$, Cross syndrome, Bergsma's albinism).	false
+5dcfcfb70a547f7be9a814b6b02115c517b6dcd5	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, @DISEASE$, Cross syndrome, Bergsma's @PHENOTYPICFEATURE$).	false
+c9d0060b1f106566a3f1410c1d71a3f3260849c4	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous @PHENOTYPICFEATURE$, @DISEASE$, Cross syndrome, Bergsma's albinism).	false
+c88406f4b0e0a901dbf6766f50b42d540af96f8a	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous @PHENOTYPICFEATURE$, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, @DISEASE$, Cross syndrome, Bergsma's albinism).	false
+8daeeada2680cd9a7aa1f66643b29dd4bf98ef38	There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, @DISEASE$, Cross syndrome, Bergsma's albinism).	false
+62187e4507ab0ea0b69c38d00581530fd4f0bd79	@DISEASE$ (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, recurrent bacterial infections and progressive neurological dysfunction.	false
+7f21dda61d8c43005f4992177de890a2f25c7e30	Chediak-Higashi syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$, recurrent bacterial infections and progressive neurological dysfunction.	false
+f2fabacdb37f8776f65e60aca6fa4324e2b9408c	Paired digests of genomic DNA (EcoRI only and EcoRI/BlnI double digest), followed by pulsed field gel electrophoresis (PFGE), were used to establish the molecular diagnosis of @DISEASE$ in 82 unrelated index cases (46 familial, 24 proven sporadic with de novo @PHENOTYPICFEATURE$, and 12 with uncertain family history).	false
+43b6661ee63cc0023186bb381a577a752fb1c991	Adverse health outcomes independently associated with HP disorders included @PHENOTYPICFEATURE$ (GHD, TSHD), severe bone mineral density deficit (GHD, LH/@DISEASE$), obesity (LH/FSHD), frailty (GHD), impaired physical health-related quality of life (TSHD), sexual dysfunction (LH/FSHD), impaired memory, and processing speed (GHD, TSHD).	false
+4b06fc4f79ed033a7dcad2d832c8cdb0ceeafdf7	Adverse health outcomes independently associated with HP disorders included @PHENOTYPICFEATURE$ (GHD, TSHD), severe bone mineral density deficit (GHD, LH/FSHD), obesity (LH/FSHD), frailty (GHD), impaired physical health-related quality of life (TSHD), sexual dysfunction (LH/@DISEASE$), impaired memory, and processing speed (GHD, TSHD).	false
+eaff74bde924e032c8148bc6fd09fee600a45974	Adverse health outcomes independently associated with HP disorders included @PHENOTYPICFEATURE$ (GHD, TSHD), severe bone mineral density deficit (GHD, LH/FSHD), obesity (LH/@DISEASE$), frailty (GHD), impaired physical health-related quality of life (TSHD), sexual dysfunction (LH/FSHD), impaired memory, and processing speed (GHD, TSHD).	false
+cbd93965ac86c207a0cd8c1af900861d05b63eda	Chorea triggered by hyperglycemia in a @DISEASE$ (MIDD) patient with the A3243G mutation of mitochondrial DNA and @PHENOTYPICFEATURE$.	false
+eef6622b37bc9a74fddf4d6090570c825b45fb01	The girl also had mild intellectual disability, psychomotor developmental delay, @PHENOTYPICFEATURE$, high-arched palate, hypertelorism and @DISEASE$-face hypoplasia.	false
+605903c8e009c0483310c59b3ea2e49527420ada	MR imaging showed cerebellar atrophy in seven out of ten @DISEASE$ patients (versus 3 mild/8 in T1D controls) and @PHENOTYPICFEATURE$ in one MIDD patient.	false
+a96751ad9750ffe6fa60f39ed55464ca9e0b6aab	MR imaging showed cerebellar atrophy in seven out of ten MIDD patients (versus 3 mild/8 in T1D controls) and @PHENOTYPICFEATURE$ in one @DISEASE$ patient.	false
+5fa2491369de32b10bbdde14eb2f1fe2f4f79950	Nine cases were bronchiectasis, 7 bronchial cyst, 7 tuberculoma, 11 inflammatory pseudotumor, 6 sclerosing hemangioma, 4 @PHENOTYPICFEATURE$, 2 atelectasis with bronchial stenosis, 2 pulmonary aspergillosis, 2 pulmonary sequestration, 8 multiple bullae and 2 cases of @DISEASE$-lobe syndrome.	false
+65bad2cb0ff4f18ac075506fb500a251e9251062	Ocular @PHENOTYPICFEATURE$ (OM) and mitochondrial disorder (@DISEASE$) may be easily mixed up, if the MID presents with similar manifestations as OM and if MID manifestations progress only slowly.	false
+79523199d8d0479f318c257b23070a018a24de9b	These symptoms (dementia, gait disturbance, urinary incontinence) and computed tomographic findings (bilateral @PHENOTYPICFEATURE$, periventricular lucency), as is often the case in NPH, are at times similar to those of MID or Binswanger's disease and it is difficult to distinguish NPH from @DISEASE$ or Binswanger's disease.	false
+c472a1e6904a631587c0181244353d3617b58117	These symptoms (dementia, gait disturbance, urinary incontinence) and computed tomographic findings (bilateral @PHENOTYPICFEATURE$, periventricular lucency), as is often the case in NPH, are at times similar to those of @DISEASE$ or Binswanger's disease and it is difficult to distinguish NPH from MID or Binswanger's disease.	false
+e74b9bfb814fc9cfd008b3368eed7e5629b1d96a	Of the patients 24 (15 male) had posthemorrhagic aqueductal stenosis, 16 (8 male) intracranial @PHENOTYPICFEATURE$, 9 (6 male) Chiari II malformations, 5 (4 male) other congenital malformations including malformations of the Dandy Walker spectrum, 9 (3 male) idiopathic aqueductal stenosis, 7 (5 male) arachnoidal cysts and 10 (8 male) other disorders, such as post-infections, macrocephaly cutis marmorata telangiectatica congenita (M-@DISEASE$) syndrome, mesencephalic arteriovenous malformation (AVM), Langerhans cell histiocystosis.	false
+3c6ffda699099063d9bc0264fa44af3c6f8616f2	The association in young girls of flexion spasms of early beginning, partial or total agenesis of the corpus callosum, severe chororetinopathy and frequent @PHENOTYPICFEATURE$ is known as the @DISEASE$.	false
+8516fd1798fb51ed8f848e218fc9faefa3fdd22c	In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with @PHENOTYPICFEATURE$ (n=59), patients with epileptic encephalopathy (n=33), patients with @DISEASE$ (n=7) and other patients with intellectual disability with or without seizures (n=54).	false
+fa02d49ac1e779a29e756057d2ba4843d9e7f8df	[Modern views on regulation of calcium and phosphorus metabolism and ossification; relations between calcium and phosphorus metabolism, Krebs' cycle and steroid metabolism; studies of several cases of rachitism, a case of glucophospho-aminic @DISEASE$ (de Toni-Debr?-Fanconi syndrome) and tetany with hyperadrenalism and @PHENOTYPICFEATURE$].	false
+6d29fbc3b0fac2c809868ad391d4ea64fbfd0cf5	Diseases in which osteoclast formation or activity is increased, such as familiar expansile osteolysis and @DISEASE$, are associated with @PHENOTYPICFEATURE$ such as root resorption and premature tooth loss.	false
+8c888355cd447871d9b41803ad0d0336ae0706ed	In patients presenting with an FSHD-like clinical phenotype with a negative molecular testing for FSHD, consider (1) detailed genetic testing including D4Z4 contraction of permissive hybrid D4Z4 repeat arrays, p13E-11 probe deletions, and D4Z4 hypomethylation in the absence of repeat contraction as observed in FSHD2; (2) mutations in CAPN3 even in the absence of protein deficiency on western blot analysis; and (3) VCP mutations even in the absence of @PHENOTYPICFEATURE$, @DISEASE$ and typical inclusion in muscle biopsy.	false
+734dd9a8caaae916e8ae6dbada6e0c901f6d46ad	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called @DISEASE$. In this paper we describe an 18-year-old girl with borderline mental impairment, seizures, @PHENOTYPICFEATURE$, short stature, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+6dddd50f8f4153f1cdd3722e722ec922bc17d2d4	Notably, our screen for highly transcribed retrocopies also uncovered a retrogene linked to a human recessive disorder, @DISEASE$, a form of @PHENOTYPICFEATURE$.	false
+5425f8cb62a4c08c689ac181d738e73c40b895a0	To evaluate the effects of mannitol on aqueous flare (aqueous protein concentration), we administered an intravenous clinical therapeutic dose to normal young adults (average age 20.1 years), to normal older adults (average age 61.5 years), and also to patients with diabetes mellitus, @PHENOTYPICFEATURE$, or @DISEASE$ who were about to undergo intraocular surgery (average age 66.4 years).	false
+7fec8ea453547bb369b87a4d8c7c56a0e943dc01	To evaluate the effects of mannitol on aqueous flare (aqueous protein concentration), we administered an intravenous clinical therapeutic dose to normal young adults (average age, 20.1 years), to normal older adults (average age, 61.3 years), and also to patients with diabetes mellitus, @PHENOTYPICFEATURE$, or @DISEASE$ who were about to undergo intraocular surgery (average age, 66.4 years).	false
+558ff35185544f9d27c5579ba8d3dd9b19442a93	In recent years our understanding of the changes in the endocrine pancreas in persistent @DISEASE$ in infancy, a form of congenital @PHENOTYPICFEATURE$, has increased considerably, in terms of both morphological classification and molecular pathogenesis.	false
+19bea46fabafadd5c2a2e4994010c369620422ae	Here, a 12-year-old boy is presented with diagnosis of @DISEASE$ who had recurrent attacks of @PHENOTYPICFEATURE$ and seizures from infancy.	false
+c1a6f57738f20f978fe7a795e0fd390c8aa1e151	In this study, we compare serum glucagon responses to @DISEASE$ versus nonhyperinsulinemic @PHENOTYPICFEATURE$.	false
+c0966ad6b20af70ee09faf12da6fba594ab47532	Generally, nesidioblastosis occurs in beta-cell and causes neonatal @DISEASE$ or adult noninsulinoma pancreatogenous @PHENOTYPICFEATURE$ syndrome.	false
+35d920da080a2caf173691e8570137a9fbbfafc6	In particular, brain glycogen was not increased 24 h after the last of recurrent episodes of @PHENOTYPICFEATURE$, when a significant counterregulatory defect could be documented during a @DISEASE$ clamp study.	false
+2a941a3a1ae718aec7deb77c66379805121ba68a	When her son presented with @PHENOTYPICFEATURE$ in the neonatal period, he underwent routine genetic testing for @DISEASE$, which revealed a specific mutation in HNF4A.	false
+77998755b1eb22d76af88e84419dc34d06827b63	The causes of endogenous @DISEASE$ include insulinoma, post-bariatric hypoglycemia and noninsulinoma pancreatogenous @PHENOTYPICFEATURE$ syndrome.	false
+1a4742cb962b4e942406b1ff450de7e1f344eab0	The causes of endogenous @DISEASE$ include insulinoma, post-bariatric @PHENOTYPICFEATURE$ and noninsulinoma pancreatogenous hypoglycemia syndrome.	false
+ec7b495318a3c71253e67c690d41b4b0529ce6fa	repeated seizures, neuroglycopenic symptoms, noninsulinoma pancreatogenous @PHENOTYPICFEATURE$ syndrome (NIPHS), endogenous @DISEASE$, nesidioblastosis.	false
+4f5312fa0dc9a8a391a6cef1724bf6ba85696ce6	Noninsulinoma pancreatogenous @PHENOTYPICFEATURE$: a novel syndrome of @DISEASE$ in adults independent of mutations in Kir6.2 and SUR1 genes.	false
+f71678b21a23f6482677cb007eec103904aabd01	Persistent @DISEASE$ of infancy (PHHI) is the most frequent cause of @PHENOTYPICFEATURE$ in infancy.	false
+38055278078ffce07650b3382f137ec3191d0fab	Growth hormone deficiency, @PHENOTYPICFEATURE$, and juvenile rheumatoid arthritis in a patient with @DISEASE$: case report and brief review of the literature.	false
+b2c00c3bd2483efad01ff9ea699b305fdc8ac339	@DISEASE$ (MGS) is an autosomal recessive disorder characterized by microtia, primordial dwarfism, small ears, and @PHENOTYPICFEATURE$.	false
+d4a6157fcfb26da9a1f462b76e31221c4af03bfd	Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause @DISEASE$ (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and @PHENOTYPICFEATURE$.	false
+90d346668df4e9bf5e1e7325893ad59db9d774b9	@DISEASE$ (CTS) in children represents a complex challenge for the hand surgeon because of its rarity, poor patient cooperation, frequently associated malformation syndromes and @PHENOTYPICFEATURE$, atypical symptoms and nuanced and poor sensitivity of instrumental tests.	false
+7d2d70612485a82434456c6ffbec727fb3000857	Patients may also develop @DISEASE$, sleep apnoea, seizures or @PHENOTYPICFEATURE$.	false
+f514b8ac5d50cb6a050180ed7112d48126e30ced	Patients may also develop @DISEASE$, sleep apnoea, @PHENOTYPICFEATURE$ or mental retardation.	false
+6d887e16657430660e2d0d0299a30d4b4e297cd1	In summary, there is level A evidence for established efficacy in postherpetic neuralgia and adult @PHENOTYPICFEATURE$; level B evidence for probable efficacy in trigeminal neuralgia and post-traumatic neuralgia; level B evidence for probable lack of efficacy in @DISEASE$; level C evidence for possible efficacy in diabetic polyneuropathy; and level U (insufficient) evidence in complex regional pain syndrome, phantom limb and stump pain, and occipital neuralgia.	false
+39715c93177aa81628d0a18b0242bcbf4415883e	Less common presentations include stroke, @PHENOTYPICFEATURE$, optic neuritis, brachial plexitis, Guillain-Barr? syndrome and @DISEASE$.	false
+aeb2cec4361318662a0c08b753fd0561fd0fb029	@DISEASE$ secondary to wrist and finger flexor @PHENOTYPICFEATURE$.	false
+4077eb4e453939c235aee432ab29c0e558ab18d2	@DISEASE$ in amyotrophic lateral sclerosis and late onset @PHENOTYPICFEATURE$.	false
+22a38da42ff7d9cfdcd32210cf222c8712422fa2	We calculated univariate statistics and used bivariate chi-square tests and multivariate logistic regression models to assess the relation between FI and risk of neurologic symptoms including @PHENOTYPICFEATURE$, extremity weakness, extremity numbness, tremors/ataxia, aphasia, @DISEASE$, vision dysfunction, and spinal pain.	false
+ceedb27d66d21485f9be8c5bcebc58a393f49d4d	We calculated univariate statistics and used bivariate chi-square tests and multivariate logistic regression models to assess the relation between FI and risk of neurologic symptoms including seizures, extremity weakness, extremity numbness, tremors/@PHENOTYPICFEATURE$, aphasia, @DISEASE$, vision dysfunction, and spinal pain.	false
+177f4183d18dfb57d0c726f48106fe9abc1d1878	It is successful in treating diseases such as the adult-onset Still's disease, amyloidosis, @DISEASE$, multiple myeloma, polymyalgia rheumatica, relapsing polychondritis, remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$-syndrome, systemic lupus erythematosus, systemic sclerosis, and Takayasu arteritis.	false
+9040869b088cf4c4d4cb7c49af1cf3c3ee3c3b92	[@DISEASE$ with with right orbital @PHENOTYPICFEATURE$].	false
+1b51f14e88d57fdddaf12ae1ca9d605f58e38692	The authors report a @DISEASE$ case associating trismus and hemifacial @PHENOTYPICFEATURE$ in a febrile context.	false
+72f63279ce20ae6d952cd3a5acaa418c97e2255d	Arsenic-related anomalies include arsenicosis, hyperkera-@DISEASE$, gastric complications, liver fibrosis, @PHENOTYPICFEATURE$, and cancer.	false
+2b98b9706b04bd8079b364a3e4724b05347e9fd0	The essential features of @DISEASE$ were peripheral eosinophilia, pulmonary oedema and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and @PHENOTYPICFEATURE$, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+a6329454fb734f092415178357a37a0bf07b93d6	Serum total oxidant status (@DISEASE$) and oxidative stress index (OSI) levels were significantly increased in the patient groups with or without @PHENOTYPICFEATURE$ compared with the control group.	false
+311375d011c87fcf7e15ec89905ff39e6f4d388a	Apparent myocardial hypertrophy due to reversible regional myocardial @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5465eec14e5a8cae455dcf1ca40d0039ecee0b29	T-wave/QRS complex amplitude correlations with myocardial @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c3fe499ec904fff465e6bdad245d8660d13e087e	Relationship between repolarization abnormalities and myocardial @PHENOTYPICFEATURE$ in atypical @DISEASE$.	false
+53a07fefea9d4e74c7dccad11cb483ee92e7ba8e	Reply to the letter- electrocardiogram correlates of myocardial @PHENOTYPICFEATURE$ with @DISEASE$.	false
+bf8f2cef19e4efd85f0f8a89c5b666fc1b84269b	To the Editor- Electrocardiogram correlates of myocardial @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+0e78f261fffb594ca83e870d8016a885e37ac31a	Myocardial @PHENOTYPICFEATURE$ is one of the characteristic features in the pathogenesis of @DISEASE$.	false
+423a3210a6c6bb2c82feb6e58a8048373d10504f	Transient apical pseudohypertophy due to myocardial @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+6356b798391597668807291afe470973a6100bed	Echocardiographic correlate of myocardial @PHENOTYPICFEATURE$ in complicated @DISEASE$.	false
+993918970e1e2a8bdf2e71f7db6acde1311a0c9a	Electrocardiogram in myocardial @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+1afb9b94599a56cede4b3ba50f474a67de5e759f	We investigated if myocardial @PHENOTYPICFEATURE$ is a feature of @DISEASE$ (TTC).	false
+b122ac7887170803338c100ba7b3f1d9af2cfbc3	@PHENOTYPICFEATURE$ of the external auditory canal in @DISEASE$ (hyperplasia).	false
+a4b50caf2f907e4739f73ef76a86f83d4a17bf80	@PHENOTYPICFEATURE$ of the external auditory canal (EAC) in @DISEASE$ has not been reported before.	false
+890244290227becdc275c5bd483b8d87d90e5305	We conducted a hospital case-control study by genotyping four potential functional single nucleotide polymorphisms (SNPs) to assess the association of @DISEASE$ complementation group F (XPF) with @PHENOTYPICFEATURE$ susceptibility, and role of XPF polymorphisms in combination with H.pylori infection in risk definition.	false
+9fad788dbdbf992f672fb81dc9f1d3d35dd29ec8	Developmental tumor was found in 14 cases, malformation of cortical development (@DISEASE$) in 26, isolated hippocampal sclerosis (HS) in 5 and gliosis in 7. Dual pathology (DP) affected 18 patients and the main extrahippocampal lesion consisted of microscopic sub-cortical heterotopias (HS-HT) for 15 patients who shared a particular clinical pattern: a history of @PHENOTYPICFEATURE$ (FS) and/or brain injury, early onset of epilepsy without latent period from FS to the first temporal seizure, and a particularly good outcome following surgery.	false
+2de21c790c55e8c0fef080e6dbba4dd6127cd326	Chi square test revealed no signi cant difference between the @DISEASE$ and IHI groups across the patients in different age groups, gender, type of seizure, duration and onset of seizure, seizure frequency, clustering, status epilepticus, EEG, @PHENOTYPICFEATURE$, and family history.	false
+9f4e3e215cf1193020371a4105ab174eca48d5c9	X-linked @DISEASE$ (ATR-X), which was first reported by Wilkie, et al. in 1991, is a disorder with severe mental retardation, characteristic facial appearance, @PHENOTYPICFEATURE$, and mild form of alpha-thalassemia.	false
+95e5a4abb848c21fda9864a06a763a8a3a881580	This entity includes familial lipoprotein lipase (LPL) deficiency, @DISEASE$, primary type V @PHENOTYPICFEATURE$, and idiopathic hyperchylomicronemia. Idiopathic hyperchylomicronemia is caused by an LPL inhibitor or autoantibody against LPL.	false
+cb11210222032fd7a96b20082e8c17e5479befbb	The authors report a case of a patient presenting with ECG findings consistent with @DISEASE$ that was later found to have Takotsubo cardiomyopathy with angiographically normal coronary arteries on cardiac catheterization after a @PHENOTYPICFEATURE$.	false
+c5dbe6837819dc628b90476635d7ce01727e7029	@DISEASE$, @PHENOTYPICFEATURE$, and abnormal body habitus were likely inherited as a dominant syndrome in this family in which eosinophil involvement was striking.	false
+d1569514eb1004585992a44e88b142f7b1bce506	Familial @DISEASE$, dysmorphic habitus, and @PHENOTYPICFEATURE$.	false
+f8fce5e710d68cb1a307bfa41a38f8061bdf82f3	Possible presentations include perinatal asphyxia; neonatal withdrawal syndrome; sepsis; @DISEASE$; hypoglycemia; neuroimaging abnormalities (corpus callosum and cerebellar abnormalities, hemorrhage, white matter lesions); biochemical abnormalities (lactic acidosis, electrolyte disturbances, neurotransmitter abnormalities); and @PHENOTYPICFEATURE$ response to pyridoxine, pyridoxal-phosphate, and folinic acid dietary interventions.	false
+35e5595d54abc73a5305bbc68cbde7ff26517009	Patients with GVHD were included prospectively and those with @PHENOTYPICFEATURE$/obstruction, severe pancreatitis, and cytomegalovirus @DISEASE$ were excluded.	false
+dcec16f7dbf642c800b4ed9fc54ce6e493358583	@DISEASE$ presenting as @PHENOTYPICFEATURE$ in a child.	false
+eb32b94bda7324bfb088f78bdbe6ee20c8455797	Finally, there other less-prevalent gluten-related diseases such as wheat allergy, gluten @PHENOTYPICFEATURE$, and @DISEASE$ (with an overall prevalence of less than 0.1?%).	false
+2442d742a94d2f9500dda3d37e0424e9f922cc42	Gluten T cell epitope targeting by TG3 and TG6; implications for @DISEASE$ and gluten @PHENOTYPICFEATURE$.	false
+9da2556dac382c059cbbde00575e1d49bd132a1a	Previous studies have shown a very low incidence of @DISEASE$ (DH) (<0.001%) and gluten @PHENOTYPICFEATURE$ (GA) in this area.	false
+33a871baaef5d0ab95d1af8c998c2b97c3288925	@PHENOTYPICFEATURE$ and sensory neuropathy associated with @DISEASE$.	false
+e77dd3e2c2cea6f8dc9b4bfc68444af7ef36729e	Other presentations include iron-deficiency anemia, osteoporosis, @DISEASE$, and neurologic disorders, mainly peripheral neuropathy and @PHENOTYPICFEATURE$.	false
+6df55b0fe0fc564c8c22f4e10f0a8eae5af1b0a3	Three conditions are triggered by gluten consumption: celiac disease, the skin rash @DISEASE$ and gluten @PHENOTYPICFEATURE$.	false
+109349a1bfbf0e9d4915a5dc6f4505919994f5bd	Extra-intestinal symptoms and associated diseases are increasingly recognized including diabetes mellitus type 1, thyroid disease, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+41125bd535b4e50ce168ad336cd93ce4076d7ae0	This finding strengthens the contention that gluten @PHENOTYPICFEATURE$ is immune mediated and belongs to the same spectrum of gluten sensitivity as celiac disease and @DISEASE$.	false
+ec5451a1da5596e029350afa6d0b48daa4d8211c	In @DISEASE$ (DH), TG3 appears to be the target autoantigen whereas in gluten @PHENOTYPICFEATURE$ (GA) autoantibodies reactive with TG6 are present.	false
+3f142ebebab0473129420d22cd946cf32ad2cece	A further 75 patients (18%) had neuropathic pain, 66 (17%) suffered from cancer pain, several types of headache were found in 57 patients (15%), 19 patients (5%) had phantom @PHENOTYPICFEATURE$, 11 (3%) suffered from @DISEASE$, and we diagnosed psychogenic pain in 11 patients (3%).	false
+04464cf230ab014cfad55e1e0564000acf1e7265	Salmon calcitonin (especially intranasal) provides an interesting analgesic effect in a series of painful conditions including @DISEASE$, adhesive capsulitis, ankylosing spondylitis, rheumatoid arthritis, vertebral crush fractures and metastasis, phantom @PHENOTYPICFEATURE$, etc.	false
+8c9bf79ee3068c15f4252104f6fdfb43916b211a	Some examples of this condition are phantom @PHENOTYPICFEATURE$, post-stroke pain and complex regional pain syndrome type I (@DISEASE$) and type II (causalgia).	false
+eff2676b687c13b385d76c98a6d0cd9cc6fc39a4	Calcitonin (especially intranasal) provides an interesting analgesic effect in a series of painful conditions including @DISEASE$, adhesive capsulitis, ankylosing spondylitis, rheumatoid arthritis, vertebral crush fractures and metastasis, phantom @PHENOTYPICFEATURE$, etc. Exogenous calcitonin is thought to cross the blood-brain barrier and to accumulate slowly in the brain, inducing analgesia once sufficient receptors are occupied.	false
+50fea52a558e39c22ed325a7e83d7671dda6578b	@PHENOTYPICFEATURE$ such as hypertrophic callus formation and "popcorn" calcifications are rare radiological findings of @DISEASE$, causing tumor-like appearances on imaging.	false
+3101db87e27c1b7d03a95d8f03de831f4aa515f3	@DISEASE$ (OI) is a heterogeneous heritable connective tissue disorder associated with @PHENOTYPICFEATURE$ and skeletal fragility.	false
+aab1ff7c75232971c28a03a60f265669b8c5a573	With use of strict standards for the diagnosis of type II @DISEASE$, this disease can be distinguished from other fetal @PHENOTYPICFEATURE$.	false
+b100e06c32ae19cdd0440760525d0e24682b6db7	In this report we review the present state of knowledge regarding the use of bisphosphonates during childhood to ameliorate the @PHENOTYPICFEATURE$ associated with @DISEASE$, idiopathic juvenile osteoporosis, fibrous dysplasia of bone and cerebral palsy.	false
+8c37b54736b8a5424ddf8b2cdc110d15497de25d	@DISEASE$ is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar @PHENOTYPICFEATURE$ causing bone fragility and deformity.	false
+d7c074fb7889ef0914f42537414592d30e5dfa0b	Such an approach is particularly desirable in cases where measurements of other biometric parameters are precluded, for example, in diseases such as @DISEASE$, hydrocephalus, and @PHENOTYPICFEATURE$ dysplasia.	false
+d72fdb8c2383bc00ba6b22ea541d233f36fbc79e	Fetal foot length is a reliable parameter for use in the assessment of gestational age and is particularly useful when other parameters do not accurately predict gestational age, for example, hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$ dysplasia.	false
+dbdd591d4e69806640b764c9cea57ff5097cad95	The most common malformations were persistent yolk plug, bifid spine, reduced body size, delayed development, asymmetry, microcephaly and @DISEASE$, tail and body flexures toward the irradiated side, agenesia or partial gill development, @PHENOTYPICFEATURE$ distribution, and hypermotility.	false
+4778459b849c9ed2876a0a752b3eb96d21bef41f	These measurements are particularly useful when other parameters do not accurately predict gestational age in some cases such as hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$ dysplasia.	false
+137794317d335db92fee724edf31422a17abb073	hydrocephalus, @DISEASE$, @PHENOTYPICFEATURE$ dysplasia.	false
+8d1f63ab267108376c1a94a41a830b83925cad18	Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, @PHENOTYPICFEATURE$ and myelodysplasia (@DISEASE$) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML).	false
+18587008abbb964d1d8df68868c0c017c41ad3f0	Some patients additionally show syndromic features such as @PHENOTYPICFEATURE$ and lymphedema (originally defining the @DISEASE$) or pulmonary disease and vascular problems.	false
+392c07737c88bf9362c6263883b3a82602ca3f85	In multivariate analysis, factors consistently associated with @DISEASE$ were @PHENOTYPICFEATURE$, low CD4+ T-lymphocyte count, abnormalities on chest radiograph, and signs or symptoms of abdominal illness.	false
+5512b4e038aa8ee2b56e470968f294a8053a1b64	In this group of patients with MTB @DISEASE$, @PHENOTYPICFEATURE$ and multiple organs involvement were common, the outcome was poor and timely diagnosis and treatment might favor outcome.	false
+bdaec251d43f0bb1894b4d1069b9a124444b27b1	Ocular signs of @DISEASE$ previously described are blue sclera, band keratopathy, conjunctival calcification, cataract, @PHENOTYPICFEATURE$ and the complications of craniostenosis.	false
+adbd7dae8f200c537244d811a1967c907d50b630	Eighty-six samples contained sufficient @PHENOTYPICFEATURE$ for analysis, including 38 classic, 30 nodular desmoplastic, and 18 large-cell anaplastic (@DISEASE$) medulloblastomas.	false
+50ca12884f98ba88ef1c64284af24c8d483ec93f	ERBB2 was detected in 40% (n=32 of 81) of @PHENOTYPICFEATURE$, most frequently in @DISEASE$ disease (P=.005), and was independently associated with a poor prognosis (P=.031).	false
+d220c8cc9727c90edeff02372122b0b9c3ef3918	Diagnosis was established as @PHENOTYPICFEATURE$ cerebellar dyssynergy with spastic hereditary ataxia and @DISEASE$.	false
+06da4f66b680bd1ce65d9beb41b4cacac9a14299	This case suggests an overlap syndrome with central and peripheral nervous system features of @DISEASE$, @PHENOTYPICFEATURE$ and peroneal muscular atrophy.	false
+aef934ce55e3d09730a129b4db6a9c7ddd5c6a27	The results indicate that measurement of the reactivity of AAT with @DISEASE$ can be a useful marker for the diagnosis of HCC and carcinoma metastatic to the liver, especially when serum concentrations of alpha-foetoprotein or other @PHENOTYPICFEATURE$ markers are within the normal ranges.	false
+1a92dd710bb82e2394250e1460c86a8fcd5c391c	The majority of @DISEASE$ @PHENOTYPICFEATURE$ are benign, but given their malignant potential, splenectomy and long-term follow-up should be the gold standard for their management.	false
+9f2e6df8a744f02f9ab058c827ecba6b860387c3	Simultaneous resection of multiple @PHENOTYPICFEATURE$ and closure of the portosystemic shunt are strongly recommended in a patient with @DISEASE$ associated with IHPSS.	false
+48731bcbbbb4d1b6ad627f9624431af13a670157	Large cell anaplastic (@DISEASE$) lymphomas are a newly defined @PHENOTYPICFEATURE$ entity, which has recently been integrated in the updated Kiel classification.	false
+8b6ce6cd213a0a045418af67e5b0d56328139207	Results show that the onset of @PHENOTYPICFEATURE$ in patients with IQCB1 mutations is highly variable, and that mutations are also found in @DISEASE$ patients without nephronophthisis, rendering IQCB1 a new gene for LCA.	false
+17bc7c33aea8edfbd45259fe5b690198a174fe4c	The fact that Myc - Tp53 @PHENOTYPICFEATURE$ arose only in Tp53(-/-) mice, coupled with the inefficient germline transmission of the Tp53-null allele, made retroviral transfer of Myc + Bcl-2 a more practical method for generating @DISEASE$ medulloblastomas.	false
+3ec11ae641df1be379bc9e13a0fd3ad12074c4f7	The risk of death declined over time when the initial AIDS-defining illness was @DISEASE$ only [adjusted hazard ratio (AHR) = 0.91, P < 0.0005]; other opportunistic infections (AHR, 0.88; P < 0.0005); Kaposi's sarcoma only (AHR, 0.92; P = 0.025); and central nervous system conditions (@PHENOTYPICFEATURE$ encephalopathy, cryptococcosis, toxoplasmosis) (AHR, 0.92; P = 0.012).	false
+d2a67bf3af38bdd7fd5441ab99d24e10868216f1	All of the patients had underlying conditions that predisposed to SP: @PHENOTYPICFEATURE$, anatomic abnormalities (one with an intrathoracic cystic hygroma and one with a cystic adenomatoid malformation of the lung), bronchiolitis, and two patients with @DISEASE$ carinii pneumonitis.	false
+5bb753d4c03f449e0d5708fe2cc0e9fa746664a1	Annual incidence in most of AIDS-defining diseases rose over the period 1988-1993, although the proportion of cases in which the respective conditions appeared as AIDS-diagnostic diseases exhibited declining trends (p < 0.05) in: invasive candidiasis, Herpes simplex virus infection, isosporidiasis, @DISEASE$, extrapulmonary tuberculosis, Salmonella (non-typhoid) septicemia, @PHENOTYPICFEATURE$ encephalopathy and wasting syndrome.	false
+af541915c8302ae64eb8fd3f954ab88836b47a6f	Skin involvement with @DISEASE$ despite dapsone prophylaxis: a rare cause of @PHENOTYPICFEATURE$ in a patient with AIDS.	false
+54d472109e4c7f14314a3ca44371cb90a1f20644	Pneumonia (p < 0.005), @PHENOTYPICFEATURE$ (p < 0.05), @DISEASE$ (p < 0.05), fungal infections (p < 0.05), cytomegalovirus infections (p < 0.05) and herpes simplex virus infections (p < 0.01) were identified infections at high risk for patients with ATL.	false
+dca0e15f4040d7d46803bae255322633015a3747	Although chest pain was the most prevalent pain location (22%), presumably because of the high incidence of @DISEASE$, other possible AIDS-related entities, such as @PHENOTYPICFEATURE$ and thrombophlebitis, were also found.	false
+f5255d99615eae9fcfcbb97a56d15b98e7521f79	@PHENOTYPICFEATURE$ and pancreatitis are the predominant dose-limiting adverse events and didanosine therapy should be withdrawn in patients developing signs or symptoms of pancreatitis and during acute treatment of @DISEASE$.	false
+a83c91ab2f03b78a9e8ec59fd4d3e1e886478241	14 acute toxic effects (hypersensitivity to asparaginase, hyperlipidaemia, osteonecrosis, asparaginase-associated pancreatitis, arterial hypertension, posterior reversible encephalopathy syndrome, seizures, depressed level of consciousness, methotrexate-related stroke-like syndrome, @PHENOTYPICFEATURE$, high-dose methotrexate-related nephrotoxicity, sinusoidal obstructive syndrome, thromboembolism, and @DISEASE$) that are serious but too rare to be addressed comprehensively within any single group, or are deemed to need consensus definitions for reliable incidence comparisons, were selected for assessment.	false
+a782e071c86180a619c7049632f47679e1f20eb1	@DISEASE$ (WMS) is a rare form of acromelic dysplasia that is characterized by distinctive skeletal, ocular, and @PHENOTYPICFEATURE$.	false
+387b973f8806d99dd6b86ffbf823a02231944afd	@DISEASE$ (WMS) is characterized by the association of short stature; brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of the lenses; and, occasionally, @PHENOTYPICFEATURE$.	false
+3f2cf23c3962b58368d0ea401d31e4cbd0a08386	@DISEASE$ (WMS) is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, glaucoma and occasionally @PHENOTYPICFEATURE$.	false
+a7be0f6d7625f13135a261a16b139f25192bf574	@DISEASE$ is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional @PHENOTYPICFEATURE$.	false
+8d57d3337a1a6815c926c5ff2beba5d65a53b38b	He had previously suffered from orbital myositis, @DISEASE$ (DI), @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+0b9b42d57b5a8463daa2297689411c9d27326b4b	This study further confirms genetic heterogeneity in @DISEASE$ and points to a clinically different subtype including significant @PHENOTYPICFEATURE$.	false
+a60b47a96409597ac28024376616db3502d11d94	Angiography is recommended in any patients with CT demonstration of a @PHENOTYPICFEATURE$, whether or not a mural nodule is apparent, and in patients with @DISEASE$ who have an abnormal cranial CT scan.	false
+90e0c998ad9f78a3d43d13083292c3f0ffbb7cfe	Variants in LRP4 have been previously associated with @PHENOTYPICFEATURE$ in Cenani-Lenz syndactyly syndrome and @DISEASE$, but have not been reported in individuals with isolated syndactyly.	false
+dfcceac4066d6083022e381fd2508043c85c03b3	Variants in LRP4 have been previously associated with syndactyly in Cenani-Lenz syndactyly syndrome and @DISEASE$, but have not been reported in individuals with isolated @PHENOTYPICFEATURE$.	false
+2bc6241ce15743309659a64d04953631bc734d8d	@PHENOTYPICFEATURE$ and @DISEASE$ were most common causes of symptomatic seizures in childhood.	false
+615d71bce2f27c789248a5b28a994c7bb08038e2	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying @DISEASE$, a multisystemic disorder characterized by obesity, blindness, @PHENOTYPICFEATURE$, renal abnormalities and cognitive impairment.	false
+cb42e4d56b37bb555991d5bb706f859edc549235	Using a bioinformatic screen for ciliary genes in combination with mutational analyses, we identified ARL6 as the gene underlying @DISEASE$, a multisystemic disorder characterized by obesity, blindness, polydactyly, renal abnormalities and @PHENOTYPICFEATURE$.	false
+a1dd067c7cfa624276d2e24ca1e209069ad1d174	These reports led to a narrowed redefinition of @DISEASE$ based on the exclusion of cytogenetic and hematopoetic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper @PHENOTYPICFEATURE$.	false
+b0908dbe2e06121c9040c6aa3fc16632af4b53f6	We present a new case of the @DISEASE$ (BGS) in an infant with prenatally apparent severe hydrocephalus, growth retardation, and cardiac and @PHENOTYPICFEATURE$ detected by ultrasound at 26 weeks of gestational age.	false
+77049edcaf06a72d8f4049a69fbf54f693fd7791	The neonate had distinct signs of @DISEASE$ including petechiae, jaundice, intracranial calcifications, cerebral @PHENOTYPICFEATURE$ and chorioretinitis together with hypertrophic cardiomyopathy.	false
+3cb871d25e47d4aaecc7db2ac2ca9953e6b3dd95	Evaluation of secondary causes, especially @PHENOTYPICFEATURE$, is important, as they can play a significant role in the development of @DISEASE$ in men.	false
+9e650e33dfe1ff32bc1b61307d0e9e1c1d95e764	@DISEASE$ in men is frequently related to alcohol abuse, @PHENOTYPICFEATURE$, hypercalciuria, or the use of glucocorticoids.	false
+eaa0adb23a692f22894c48ab420869f419c9abae	Lower calcitonin levels in young @PHENOTYPICFEATURE$ men with @DISEASE$.	false
+525f76e8bfd125f348d1a9fe97c7905aaf460b79	The burden of TDS includes depression, sexual dysfunction, mild @PHENOTYPICFEATURE$, and @DISEASE$.	false
+154fe0f48e9ce2c29a25529729bad9f94b37e371	@PHENOTYPICFEATURE$ hypogonadism and @DISEASE$ in men.	false
+774da7e0e9387a74ddf255453e65c693281af4a1	Hypogonadal @PHENOTYPICFEATURE$ and @DISEASE$ in men.	false
+94bb6b75eafb6294834ffd060a3320fbca383233	@PHENOTYPICFEATURE$ was significantly overrepresented in osteopenic and osteoporotic subpopulations while decreased weight only in patients with @DISEASE$.	false
+d9b0b809ccc49a321b1f11bd9a068a7d41efb0fe	Moreover, @DISEASE$ was more prevalent in postmenopausal women, and in those who had intestinal calcium @PHENOTYPICFEATURE$, which was present in 80% of osteoporotic patients but in only 18% of nonosteoporotic patients (p = 0.03).	false
+7c33231082882c5096b1b848b6e1a769c35e0113	After gluten free diet, diarrhea, @PHENOTYPICFEATURE$, anemia and @DISEASE$ were improved.	false
+50517359e69e8a9d67f94c95b530ca1fa7d475d6	@PHENOTYPICFEATURE$ and chronic obstructive airway diseases are associated with @DISEASE$ and fractures: a literature review.	false
+f00e11ab98a8761b87b85a9a38d345f41e64e9a4	Patients with @DISEASE$, recent spondylodiscitis, subchondral sclerosis, visual and @PHENOTYPICFEATURE$ and all other types of spondylolisthesis.	false
+63a07b9e1f0b5081ad54b639d0a80f77d3ae5795	Two individuals with Asperger's syndrome, a rare @PHENOTYPICFEATURE$, developed recurrent episodes of hypersomnia and abnormal behavior (@DISEASE$) during adolescence.	false
+d32c24b875e21ce84de6cf705c098d82ac09bd92	@DISEASE$ (KLS) is a rare disorder characterized by recurrent episodes of hypersomnia, cognitive or @PHENOTYPICFEATURE$, compulsive eating behavior, and hypersexuality.	false
+b4dfae099232176a36ece14745eca031436ed59c	@DISEASE$ is an uncommon disorder with recurrent episodes of hypersomnia, clearly associated with @PHENOTYPICFEATURE$ like binge eating, hypersexuality and abnormal behavior.	false
+23aab36b20cfbc0c4de4ab43950297b508ae41c5	Retrospective studies suggest that @DISEASE$ might progress more rapidly in patients with post-transplant anemia, but whether correction of @PHENOTYPICFEATURE$ improves renal outcomes is unknown.	false
+8353bb4fa8c65dad603bbe78684fe8b39b728076	Posttransplant @PHENOTYPICFEATURE$ may be a major determinant of @DISEASE$.	false
+f855b51abefb6549e7a71fee4e3ef3d38df1ab19	@PHENOTYPICFEATURE$ was frequent among RTRs displaying microalbuminuria, which may reflect EPO deficiency due to the tubulointerstitial injury of @DISEASE$.	false
+f6f156cea578abd747b8c7c2ba8b0667524dc91e	In addition, recent data in @DISEASE$ pheochromocytomas point to a 'second hit' mechanism as a trigger for @PHENOTYPICFEATURE$ formation.	false
+dbbbac289a45a036c05a62867905a46b6857e6ac	Molecular abnormalities in @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+3636edd6a5fb21fb9f1217b19279e414e5b564ca	@DISEASE$ and RET: from @PHENOTYPICFEATURE$ to neurogenesis.	false
+ef014a0067eaa7b99a6103ee78a3b265864cbf8e	Genetic events in @PHENOTYPICFEATURE$ initiation and progression in @DISEASE$.	false
+579368d1261cb8a8378674f2df1cf691a617845d	The rate constant for baseline catecholamine secretion was 20-fold higher in VHL than in @DISEASE$ tumors (0.359 +/- 0.094 vs. 0.018 +/- 0.009 day(-1)), but catecholamine release was responsive only to glucagon in MEN 2 @PHENOTYPICFEATURE$.	false
+1d3d0b0916720c4f4a8574904441f9dac128acbc	The rate constant for baseline catecholamine secretion was 20-fold higher in VHL than in MEN 2 tumors (0.359 +/- 0.094 vs. 0.018 +/- 0.009 day(-1)), but catecholamine release was responsive only to glucagon in @DISEASE$ @PHENOTYPICFEATURE$.	false
+9a984bcd9d7b77ebbe607a25130f908afb3e7f77	The rate constant for baseline catecholamine secretion was 20-fold higher in VHL than in @DISEASE$ @PHENOTYPICFEATURE$ (0.359 +/- 0.094 vs. 0.018 +/- 0.009 day(-1)), but catecholamine release was responsive only to glucagon in MEN 2 tumors.	false
+cb479413c5e43d33939859e19a2f0073c7d154cb	The rate constant for baseline catecholamine secretion was 20-fold higher in VHL than in MEN 2 @PHENOTYPICFEATURE$ (0.359 +/- 0.094 vs. 0.018 +/- 0.009 day(-1)), but catecholamine release was responsive only to glucagon in @DISEASE$ tumors.	false
+bb5b6a6848b382da862e8da303c46ae118a0e604	Main outcome measures were @DISEASE$-associated @PHENOTYPICFEATURE$.	false
+337b3a6173a05a8f7b9bbd370fda27bf52a3c463	48 out of them had @DISEASE$ @PHENOTYPICFEATURE$ and 236 subjects were at risk.	false
+33e69d543693f194f9b448208300bdd6931c7036	This review summarizes the morphology and clinic of @DISEASE$-associated @PHENOTYPICFEATURE$ and their respective precursor lesions.	false
+d4db9b3f34257f4e4283e1113b2248945f329602	In patients with @DISEASE$ syndrome phaeochromocytomas are usually benign adrenal @PHENOTYPICFEATURE$ with high risk of bilateral development.	false
+d1438d4ad42b3c5bedb2bffb0a9b79171d8b65bb	Additional studies are needed to elucidate the correlation between the S409Y mutation and @DISEASE$-specific @PHENOTYPICFEATURE$.	false
+105ebaa09165f01a35a138d60c0008e6fe381d14	Other associated clinical features include hypothyroidism, abnormal dentition, behavioral issues, @DISEASE$, @PHENOTYPICFEATURE$, and cardiac anomalies.	false
+c6aecc7af3ac9dd9d41e19dfdce1db0a49c1457d	Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, @DISEASE$, @PHENOTYPICFEATURE$, poor eye contact, and outburst of aggressive behavior with autism-like features.	false
+ce9d715058c43dc63c379fe78dacc8b7149768e9	Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, @DISEASE$, speech delay, poor eye contact, and outburst of aggressive behavior with @PHENOTYPICFEATURE$-like features.	false
+8c1525a7a205c36ad849e7704dd7382e3be7077f	In 1973, King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, @PHENOTYPICFEATURE$, @DISEASE$, and a characteristic facial appearance.	false
+47c61f5ae1f4b1b6125e88cde4054d84c35b19db	The prevalence of other congenital heart malformations, short stature, @PHENOTYPICFEATURE$, @DISEASE$, and developmental delay did not differ between the two groups.	false
+ba8248e993b398717a2dbb12c66e4f34068145b3	We describe a 4-year-old boy with an accessory right thumb, short and broad toes, @DISEASE$, micrognathia, abnormally modeled ears, and @PHENOTYPICFEATURE$.	false
+83e16bb1a03d88b246f5e60c78a86718a27eba12	This extremely rare anomaly occurs more often in the male where the abnormality may be associated with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+1ae886faa5b35beaad3d1ba4f775fb9089c1d334	49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+55b9026ab9a23e7f95659aa742dda09ee0d61bff	Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, obesity, umbilical hernia and mental retardation.	false
+60b96aaf985ae6bf5d5fc91230c0f2a790c2211d	The clinical features were short stature, obesity, delayed mental development, bilateral @DISEASE$, @PHENOTYPICFEATURE$, hypopigmentation, and bilateral moderate vesicoureteral reflux with a history of muscular hypotonia.	false
+66e116071c5081f9b9797743938e74c4113607f0	Splenogonadal fusion is frequently associated with @DISEASE$ and/or congenital orofacial/@PHENOTYPICFEATURE$.	false
+35849dea42b2de98ab35e9144fa7c63f2bfceeac	However the prevalence of some malformations such as Down syndrome, Polydactyly, @DISEASE$-microtia, syndactyly and @PHENOTYPICFEATURE$ have increased.	false
+a268d12ca9ef85de08fd722d37df8c8af354e52f	We proposed that features of @DISEASE$ are present in infants with cirrhosis due to @PHENOTYPICFEATURE$ (BA) as early as the time of evaluation for liver transplant and will correlate with mortality and postoperative morbidity.	false
+c12e18213f80cc07b12f29991d58f9b5ef2cd56c	@DISEASE$ (MRCL) is a specific histological subtype that accounts for 30-35% of liposarcomas and whose virulence depends on the quantity of round-cells within the @PHENOTYPICFEATURE$.	false
+2fb0bcb499226c5615f2069a741480960df7c2d6	The association between @PHENOTYPICFEATURE$ progression and vascularity in myxofibrosarcoma and @DISEASE$.	false
+bafb3e635683c109141103c2cb78f8111f48f824	Unique to sarcomas, the @DISEASE$ is remarkably sensitive to radiation therapy in the pretreatment setting, owing to the @PHENOTYPICFEATURE$ morphology and vascular distribution.	false
+1af5d3e75c5607b30a0c350ee8cc5067c353000f	Cases like these, combined with the occurrence of mixed-type liposarcoma (well-differentiated/myxoid liposarcoma) and the vicinity of chromosomal regions involved by specific karyotypic aberrations in these @PHENOTYPICFEATURE$, suggest that @DISEASE$ and well-differentiated liposarcoma (including its dedifferentiated variant) are more closely related in biological terms than is generally believed.	false
+22c30bc9095c81f130998c99a9f815376df23a1a	Two patients with @DISEASE$ died of @PHENOTYPICFEATURE$ after 4 months and 3 years, respectively.	false
+4c3f589f6bed0cdf95ffd485ba4f67e852bbba42	We review other reports of @DISEASE$ previously described with @PHENOTYPICFEATURE$, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of Adams-Oliver syndrome is suspected in the differential diagnosis.	false
+74ee627916ec4375211baf2b3b93df75d287780b	We review other reports of Adams-Oliver syndrome previously described with @PHENOTYPICFEATURE$, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of @DISEASE$ is suspected in the differential diagnosis.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+31b587ecd38e1f0ca22c1b5f3e7fa8f86cd27663	To study the participation of these three mechanisms in the effects of bulbectomy + light deprivation, we compared, in 28-day-old male rats, the effects of olfactory bulb deafferentation (peripheral anosmia) with those induced by either olfactory bulbectomy or blocking the @DISEASE$, alone or associated with @PHENOTYPICFEATURE$.	false
+8c56b3ee4d5be82f885dc4b1ee89b536a1df504c	The treatment of NASH with hepatoprotectors and antioxidant I in the sufferers of the Chornobyl accidentincreased the level of antioxidant defense products (catalase and superoxide dismutase) with the normalization ofthe integral index of the @DISEASE$, and a significant decrease in the number of patients with reduced AOS status (from42.6% to 24, 2%, p <0.05), positive dynamics of biochemical parameters of blood with decreasing frequency ofdetection of cholestasis syndrome, hypercholesterolemia and @PHENOTYPICFEATURE$ were established as well as the positivedynamics of structural changes in the liver according to ultrasound data.	false
+ea81b6eeb19a0aa9cc61494c499584f82614ad1c	The treatment of NASH with hepatoprotectors and antioxidant I in the sufferers of the Chornobyl accidentincreased the level of antioxidant defense products (catalase and superoxide dismutase) with the normalization ofthe integral index of the AOS, and a significant decrease in the number of patients with reduced @DISEASE$ status (from42.6% to 24, 2%, p <0.05), positive dynamics of biochemical parameters of blood with decreasing frequency ofdetection of cholestasis syndrome, hypercholesterolemia and @PHENOTYPICFEATURE$ were established as well as the positivedynamics of structural changes in the liver according to ultrasound data.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+6b53876b440316fe1b2c1285586853ce397a7140	Nuclei of @DISEASE$ cells have a pattern of delicate uniform, linear, longitudinal, excentric grooves @PHENOTYPICFEATURE$, usually single, involving the nuclear membrane and extending at least half the nuclear diameter, producing a notched mitten-shaped nuclear outline, forming a pattern not seen in other neural tumors.	false
+f5c6faa84f9034c5556402fa0adc2294ef640e92	@DISEASE$ brain abnormalities in boys with @PHENOTYPICFEATURE$.	false
+9872b44f62203da2ef9a154109238ce72d0ad9fa	Cilia function as critical sensors of extracellular information, and ciliary dysfunction underlies diverse human disorders including situs inversus, @DISEASE$, @PHENOTYPICFEATURE$, and Bardet-Biedl syndrome.	false
+6f3acc7e44023309f9b7d649e2b98ae1540092d1	We then discuss the clinical features of selected ciliopathies, with an emphasis on primary ciliary dyskinesia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+747346aaf67fa4f7e72b3f4a40dafcce611ab973	In mice, mutations in IFT proteins have been shown to cause several ciliopathies including @PHENOTYPICFEATURE$, @DISEASE$, and hearing loss.	false
+87d5a82d32bdee490f84667ed243fbca94333945	Ciliary defects are associated with several human diseases, including @DISEASE$, primary ciliary dyskinesia, left-right axis patterning, hydrocephalus and @PHENOTYPICFEATURE$.	false
+eb50aa7415e3e4477836e68c8ccdf2f70d921feb	In the 14 TSC cases, 9 had AMLs, 9 had RCCs, 5 had @DISEASE$ and 8 had @PHENOTYPICFEATURE$ cysts (EC) lined by large eosinophilic cells.	false
+5eab76a6295f9fc6d04b03b4c1c40d9ceb035a2b	Furthermore, new applications may include the treatment of arterial hypertension, @DISEASE$, @PHENOTYPICFEATURE$ and Meniere's syndrome.	false
+62329e3021cb693a0e90aecbd5999f8d0cce0b2e	A truncated polycystin-2 protein causes @DISEASE$ and @PHENOTYPICFEATURE$ in transgenic rats.	false
+77c431cdb9d2f4f50eeb64110fbab0512fe617b6	Renal @PHENOTYPICFEATURE$ in @DISEASE$ mouse.	false
+1bb6315c8ce587e1f51d0784ace668d214ce7041	Genetic defects in cilia produce a host of disease symptoms, including @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$, chronic bronchiectasis, infertility, and polydactyly.	false
+7333521f8a04423719f8c84144219d2ebd65e936	Abnormalities in ciliary structure or function can have devastating pathological consequences ranging from sinusitis and obesity to @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+d9b0d3eda6e6258755a4ef9d854ee5c353e239ac	Developmental eye diseases, including @PHENOTYPICFEATURE$/microcornea, @DISEASE$ and coloboma/microphthalmia/anophthalmia, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+fe0fdbb0f4fc5a2b18bdfa30fea5eb2293bbd176	Developmental eye diseases, including cataract/microcornea, @DISEASE$ and coloboma/microphthalmia/@PHENOTYPICFEATURE$, are caused by mutations encoding many different signalling and structural proteins in the developing eye.	false
+77e8292933be61f847b91b620d031955d116493a	Mutations in the human PAX6 gene produce various phenotypes, including aniridia, @DISEASE$, autosomal dominant @PHENOTYPICFEATURE$ and familial foveal dysplasia.	false
+90616febb790881ed07663958a093a98336074dc	Cases of @PHENOTYPICFEATURE$ surgery without penetrating keratoplasty in patients with @DISEASE$ are very rare.	false
+909d20b4ac24e2739354f60f2ce3e9907959d125	These variants were detected in the @PHENOTYPICFEATURE$/microcornea and @DISEASE$ patients.	false
+c258ff3a18e338f4f99ee8dbc58d8234ba4cf582	@DISEASE$ with post axial polydactyly, bilateral camptodactyly and @PHENOTYPICFEATURE$ in a Kenyan neonate: a case report.	false
+70357e14b3a761438e2bab93317d0f89105cf7a6	Ocular abnormalities include @PHENOTYPICFEATURE$, microphthalmia, buphthalmos, and @DISEASE$.	false
+59ad70eeda327409e9165ca2ffdaef2b46d39062	Bilateral microphthalmos, @DISEASE$ with @PHENOTYPICFEATURE$, and posterior chambers without evident pathology, were found.	false
+fbdab1572633c1fa1420e299d1e600328916290b	Severing of the synechia between the cataract and iris, during @PHENOTYPICFEATURE$ surgery, in a patient with @DISEASE$ type 2 resulted in favorable postoperative visual acuity.	false
+210c77057e34ece8ac144e16e421f8c63cf0b2fc	Severing of the synechia between the @PHENOTYPICFEATURE$ and iris, during cataract surgery, in a patient with @DISEASE$ type 2 resulted in favorable postoperative visual acuity.	false
+961b7431c63676ec0077cf5b4f46069f5113be9d	Eighteen family members had microcornea and a @PHENOTYPICFEATURE$, and an additional six had sclerocornea or @DISEASE$.	false
+3dae5625b70a164eb643c708d18da6a6e4fc5abe	Low-incidence anomalies include corneal opacities (@DISEASE$ in one), @PHENOTYPICFEATURE$, tortuosity of retinal vessels, and long eyelashes.	false
+61c4b371e527df43001e2cdfe262816c7d0ece53	X-linked @DISEASE$ (OASD) is an autonomous disorder that poses significant clinical problems, causing affected individuals to be blind and @PHENOTYPICFEATURE$ by early middle age.	false
+e8ceef5666b081c25188af445a76caecd82db250	An accurate evaluation in our sample highlights different degrees of ID, variable @PHENOTYPICFEATURE$, and a preservation of communicative skills among remaining adaptive areas, as the neuropsychiatric hallmark of @DISEASE$.	false
+fcfbb19739df601da883ca8349f7e3474ad9f3cb	In these formerly forgotten, but now famous, dissertations, Garrod first used the expression, 'inborn errors of metabolism', to describe four rare disorders: @PHENOTYPICFEATURE$, alkaptonuria, cystinuria, and @DISEASE$.	false
+8b29007cbc77db61775743dedcd6dd4af7591dce	Mendelian, biochemical and molecular genetics together have revealed what lies behind the four canonical inborn errors described by Garrod (@PHENOTYPICFEATURE$, alkaptonuria, cystinuria and @DISEASE$).	false
+1e55a5f7eccaa3f63784f9a418613d522c9fd15f	Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and @DISEASE$ (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of @PHENOTYPICFEATURE$, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin.	false
+8e3416728d422df9f696af4980b608acf7bc6e80	@PHENOTYPICFEATURE$, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in @DISEASE$.	false
+99dca4ffeed7d09c8b25134746f1df0c6ec9efc5	Syndrome of retardation with urogenital and @PHENOTYPICFEATURE$ (@DISEASE$): clinical features and mode of inheritance.	false
+7eef7bfe96f61a94c6cee58a6ce18672dc38910a	The RSH/@DISEASE$ (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and @PHENOTYPICFEATURE$.	false
+6e4c71e9a9e7d0375408fac82efdc64d5ebb71bd	@DISEASE$ (SLOS) is a hereditary, autosomal recessive @PHENOTYPICFEATURE$, leading to malformations of multiple organs.	false
+f4132ddc6247c6b3d0e9dd4dd83cff4da1b61cf4	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	false
+49a3a56b9c46142d333f48ffa776a3745e84ceaa	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (@DISEASE$) syndrome.	false
+8395b8798fbab7c4839864f977e8968245ce5b68	@DISEASE$ is independently associated with @PHENOTYPICFEATURE$.	false
+1a6d073211ce21d580578d46f39d9886110a207a	Stroke and @PHENOTYPICFEATURE$ in chronic @DISEASE$ patients: A new theory proposition.	false
+ed4e94f8afebc1da5b4d03c4f7db5c8fb4690909	The most frequent diagnoses were @DISEASE$, @PHENOTYPICFEATURE$, latent tuberculosis infection, intestinal parasitosis, hepatitis B virus (HBV) infection, and human immunodeficiency virus (HIV) infection.	false
+ba03ae2916be81dae83e519ad18787afb6ae20d4	@PHENOTYPICFEATURE$, rather than multiple infarcts, may represent the main anatomical substrate of cognitive impairment in @DISEASE$.	false
+91dd8ec1b784627d47f8237256da4040a3258b37	@DISEASE$ is associated with @PHENOTYPICFEATURE$ independent of structural cardiac disease related to cardiomyopathy.	false
+3fcd04322edfe7bc89cf6bd510d0d969abe092c6	Investigation of the patients by questionnaire revealed such complications as obesity, striae atrophicae, abdominal pain, headache, @PHENOTYPICFEATURE$, @DISEASE$, and cardiac complication in some patients.	false
+b659e867146337a9674163f4645c9ff25cfff4f1	Three-dimensional computed tomography (CT) and gait analysis were performed for 9 patients with late-presenting unilateral @DISEASE$, who recently developed out-toeing (n = 5) or in-toeing (n = 4) gaits without torsional problems or @PHENOTYPICFEATURE$.	false
+dfad1a643a169cf8830dd2e3f0eaadce2aaace10	Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology domain (PH), have been identified in @DISEASE$ (CNM) and in the intermediate and axonal forms of the Charcot-Marie-Tooth @PHENOTYPICFEATURE$ (CMT).	false
+3f5273c98101d140f412030f7082875277b7aff9	Dynamin 2 (DNM2) mutations cause @DISEASE$, a rare form of congenital myopathy, and intermediate and axonal forms of Charcot-Marie-Tooth disease, a @PHENOTYPICFEATURE$.	false
+9a14470da400a1a88bd5a7e8655194726b20c5d0	Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and @DISEASE$, they have a different mode of inheritance and lack @PHENOTYPICFEATURE$, one of the most characteristic findings of the Schwartz-Jampel syndrome.	false
+76ab8a2ed78456f7c72b17bd112a6e06df90a6ae	All three patients present the cardinal features of @DISEASE$ including extreme microcephaly, congenital cataracts, @PHENOTYPICFEATURE$ and arthrogryposis.	false
+bcb5818b97a867312c9a2f2dd580e635a901cd1f	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, @PHENOTYPICFEATURE$, neurogenic arthrogryposis, growth failure and severe psychomotor retardation.	false
+09ed9c0b9a372fdeff398aab1bced1bb1fd48037	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+3512d5147a01e0ec2d7e069b3d4893e1b586904a	@DISEASE$ spectrum disorders (NMOSD) occasionally develop in patients with @PHENOTYPICFEATURE$ in relation to aquaporin-4 IgG (AQP4-IgG), representing a new paraneoplastic phenomenon.	false
+7c7a2524e8131b9a24757bb0677d5e9894638a4f	We were able to rule out all other causes included in the differential diagnosis, namely, vascular disease, @PHENOTYPICFEATURE$, and autoimmune conditions, especially those associated with @DISEASE$ spectrum disorders.	false
+5a007db7c286a49b2f98424f1b128e22d35514b1	A patient with myasthenia gravis and thymoma developed @DISEASE$ (NMO) and necrotizing myositis 4 months after treatment of the @PHENOTYPICFEATURE$.	false
+dcc19a88f377a26af89209cb7cd143d0bd192c1d	Axial @PHENOTYPICFEATURE$ in Devic @DISEASE$.	false
+14d35c8e7b8a4ae3e585365b6f813af616d94e7c	Altered aquaporin-4 (AQP4) expression has been reported in brain edema, @PHENOTYPICFEATURE$, muscular dystrophy, and @DISEASE$.	false
+2f14559b698ddf3df86d22e914abb2015121aad3	Reports of @DISEASE$ spectrum disorder (NMOSD) occurring in the setting of @PHENOTYPICFEATURE$ suggest that aquaporin-4 autoimmunity may in some cases have a paraneoplastic basis.	false
+f97d284e1be7cd6f56df1e3e984f108c4d843a3d	The role of @PHENOTYPICFEATURE$ in @DISEASE$--a comparison with multiple sclerosis and healthy controls.	false
+9a49fa56b1d16a3e664b1ff83a2d08725d4cf5df	@DISEASE$ mimicking intramedullary @PHENOTYPICFEATURE$.	false
+cb5a7102229c30b2814d5840e8ddb8af083ee429	Few cases reported the coexistence of @PHENOTYPICFEATURE$ and @DISEASE$ spectrum disorder (NMOSD), which is generally considered idiopathic.	false
+4ba1522c8ea7cf8e57c9e0a8001a247e92d23e8a	Longitudinally extensive transverse myelitis is characteristic but not pathognomonic for @DISEASE$ spectrum disorders (NMOSDs) and may mimic local @PHENOTYPICFEATURE$.	false
+bbf7669eb4019d9cc63413c5218b286d11935cea	Clinical differential diagnoses included nevus, @DISEASE$ and adnexal @PHENOTYPICFEATURE$.	false
+3374dfd8e2bc4fc07fd2d6d8839734b9acbdd952	@DISEASE$ is the most frequent benign @PHENOTYPICFEATURE$.	false
+eec7d031866e856cc1640fb43d8f2e3090839cac	@DISEASE$ is a rare benign @PHENOTYPICFEATURE$.	false
+6b1cb911109871d3fc2f2778d741d567eaa1d351	@DISEASE$ development in NF1--insights into @PHENOTYPICFEATURE$ initiation.	false
+ea84ed6b6e1fd3eb3ce9a03bfa285b094405b46b	Mandibular @DISEASE$: Case report of a rare @PHENOTYPICFEATURE$.	false
+d501bb580cb787dc266fd033e69a217ace189b8a	This @PHENOTYPICFEATURE$ represents a @DISEASE$ with portions that have undergone melanocytic differentiation (melanocytic neurofibroma).	false
+6749dc4d673a9d915fd3d74957e118d2d6c45c5a	This @PHENOTYPICFEATURE$ represents a neurofibroma with portions that have undergone melanocytic differentiation (melanocytic @DISEASE$).	false
+5f1b00f2f41b7e5b6f863df600bf6a5cd25e2c66	Among a total of 31 tumors, 19 @PHENOTYPICFEATURE$ (61%) showed schwannoma-like nodules within a @DISEASE$-like tumor, corresponding to hybrid neurofibroma/schwannoma.	false
+ae2ef6d21e8a3f6a97ed1181fd5a88dbc88eab1b	Among a total of 31 tumors, 19 tumors (61%) showed schwannoma-like nodules within a neurofibroma-like @PHENOTYPICFEATURE$, corresponding to hybrid @DISEASE$/schwannoma.	false
+bde0352c3cdf8d0adc3f8e572507be3a39cccd61	Among a total of 31 tumors, 19 tumors (61%) showed schwannoma-like nodules within a @DISEASE$-like @PHENOTYPICFEATURE$, corresponding to hybrid neurofibroma/schwannoma.	false
+43f352b47d0fcd367b0f25abe7388649fe7cd447	Among a total of 31 tumors, 19 @PHENOTYPICFEATURE$ (61%) showed schwannoma-like nodules within a neurofibroma-like tumor, corresponding to hybrid @DISEASE$/schwannoma.	false
+728d63f8034dacf192f4fb04d3509ed1a4bb3bc7	Among a total of 31 @PHENOTYPICFEATURE$, 19 tumors (61%) showed schwannoma-like nodules within a @DISEASE$-like tumor, corresponding to hybrid neurofibroma/schwannoma.	false
+5aa52f67e68d0b03c6453f3860f19000d49653a8	Among a total of 31 @PHENOTYPICFEATURE$, 19 tumors (61%) showed schwannoma-like nodules within a neurofibroma-like tumor, corresponding to hybrid @DISEASE$/schwannoma.	false
+32bfb0609afe09c3ebc4a6ccff884d837be3f888	The @PHENOTYPICFEATURE$ was a @DISEASE$.	false
+6090c303bb6b40f2d5cd677b890d730f4390b359	Histologically, the @PHENOTYPICFEATURE$ was diagnosed as @DISEASE$.	false
+158a476e76efc65bf23f22736520bac49a286859	@DISEASE$ is a kind of aggressive benign @PHENOTYPICFEATURE$.	false
+c73ff76f7abdb9e6afb489df28df633294791442	Cerebro-oculo-facial-skeletal (@DISEASE$) syndrome is a rare autosomal recessive disorder with microcephaly, @PHENOTYPICFEATURE$, and death in childhood.	false
+90b5de89ee79854e7aae83b21feffe2105aa507a	Associated anomalies and diseases included 3 cases of immature infant, 2 of myelomeningocele, and single cases of Arnold-Chiari malformation, cerebral palsy, hydrocephalus, laryngomalacia, William's syndrome, Wiedemann-Beckwith syndrome, hypoxia, esophageal hiatus hernia, gastroesophageal reflex, @PHENOTYPICFEATURE$, @DISEASE$, and cerebral atrophy.	false
+cbb95d24db86f149880f5968d3a09268777d15fd	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rare autosomal-recessive disorder that includes microcephaly, @PHENOTYPICFEATURE$, and multiple congenital anomalies.	false
+e17e36d9fa807236109d1e80140f0fdedeb7b3ca	We report on three members of a Brazilian family with @DISEASE$ D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal @PHENOTYPICFEATURE$.	false
+ede7cc1f54dce0fbd117e1a41c30eb095b5bb26c	Novel mutations in PXDN cause @PHENOTYPICFEATURE$ and @DISEASE$.	false
+91f896187be78b51ab924d26a85c255a6fa55330	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), @DISEASE$ where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to @PHENOTYPICFEATURE$ or blindness.	false
+bc75bb27e8d225ad7fe91b9fd5af1e197423b897	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), @DISEASE$ where there may be pupillary and iris anomalies, and associated cataract and @PHENOTYPICFEATURE$, often lead to visual impairment or blindness.	false
+7972167566e599dc6e595650db2e665d45019a8c	Disorders of eye development such as @PHENOTYPICFEATURE$ and anophthalmia (small and absent eyes respectively), @DISEASE$ where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to visual impairment or blindness.	false
+43cdffd983144d966c7dbba47e08349f33e31568	Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), @DISEASE$ where there may be pupillary and iris anomalies, and associated @PHENOTYPICFEATURE$ and glaucoma, often lead to visual impairment or blindness.	false
+c8cf42181429b74ae10d0185a9a10627c160206a	This mutation causes severe @DISEASE$ and @PHENOTYPICFEATURE$ resembling the manifestations in patients with PXDN mutations.	false
+5ecde333c7c68f8759017d2f4ea843fc267e2579	gene in mice leads to complex ocular abnormalities, including microphthalmia, corneal fibrosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+97da2e0610d70aae22f1561321a075d559f16257	gene in mice leads to complex ocular abnormalities, including @PHENOTYPICFEATURE$, corneal fibrosis, @DISEASE$, and cataract.	false
+ff179f915b892e6f79ff89d30905391800428405	Disruption of Gpr48 causes a wide spectrum of @DISEASE$ (ASD), including microphthalmia, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis, and @PHENOTYPICFEATURE$.	false
+7059442d470700b2ca7efe316173f42ee3273b4b	Disruption of Gpr48 causes a wide spectrum of @DISEASE$ (ASD), including @PHENOTYPICFEATURE$, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis, and cataract.	false
+45d0ba86e7faa4123dadee55adbd0770ade37f8f	deletion syndrome and ocular features of right @PHENOTYPICFEATURE$ and left @DISEASE$.	false
+2f9f74930c34d99f897ea9109f230e0f0d274ab3	Eyes of nee mice exhibit @DISEASE$ and early-onset @PHENOTYPICFEATURE$.	false
+7e8b96aa8b250c89d7e979d9054d769c58340c13	We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular defects ranging from @DISEASE$ and cataract to anophthalmia/@PHENOTYPICFEATURE$.	false
+7bc3b88f8738b42802cf1994da345a390de08245	We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular defects ranging from @DISEASE$ and @PHENOTYPICFEATURE$ to anophthalmia/microphthalmia.	false
+866ce7297e7d9dbd1ecf9965ab94466dfba9803e	We conclude that PXDN sequencing should be considered in @PHENOTYPICFEATURE$ with @DISEASE$.	false
+273282084a32645f60ab93044ced5a3c99bbb1fa	The major underlying aetiology of BL/SVI was undetermined/unknown in 32.7% (mainly microphthalmia, @DISEASE$ and @PHENOTYPICFEATURE$), hereditary factors 31.9%	false
+ecfc856b65e936d3532d1804dd14f63aff762d09	The major underlying aetiology of BL/SVI was undetermined/unknown in 32.7% (mainly @PHENOTYPICFEATURE$, @DISEASE$ and cataract), hereditary factors 31.9%	false
+492258e29dbc1f7f2bdc817622db650704757f58	@DISEASE$ (CLD) is an autosomal recessive @PHENOTYPICFEATURE$ (cld) in mice which impairs post-translational processing of LPL and HL.	false
+73b103cc96a6b15f0a3b150df8f528171222f3e0	@DISEASE$ mimicking @PHENOTYPICFEATURE$-like lesion--case report.	false
+fc7c03b4ec694266a0e69cccfbae1fca33b7740a	In an orthotopic pancreatic xenograft mouse model, mice bearing @DISEASE$-1 @PHENOTYPICFEATURE$ were treated with Pao and Gem, either alone or in combination.	false
+8c2504e5aa39786ce6bc443d5c62cf733b36c254	To describe the clinical, laboratory, and imaging features and course of patients with @DISEASE$ (PCNSV) presenting with an intracranial @PHENOTYPICFEATURE$-like mass (TLM).	false
+7c2e69c35b59b884a66b9866be46b4cca18890c9	The category of single-organ vasculitis, suggesting the limited expression of a systemic vasculitis, includes @DISEASE$ and nonsystemic peripheral nervous system @PHENOTYPICFEATURE$.	false
+5e87cd9e73f606fc844083f3602892a8632c9fa3	One is associated with MYCN single-@DISEASE$ @PHENOTYPICFEATURE$ and maps distal on 1p36.3.	false
+646ee58ce7cdf96a6808cfa6e031f9fd7538e6d1	@DISEASE$ deficiency started at a young age causes @PHENOTYPICFEATURE$.	false
+2c84da2b3ed0f08760808dc770f672811a6ef328	The number of @DISEASE$ number abnormalities does not correlate with the latency or pathology of the @PHENOTYPICFEATURE$.	false
+746c21b9deff7ffca00781b0dbd3f15225aa7f08	A patient with @DISEASE$ deficiency and @PHENOTYPICFEATURE$ was suffering from pancytopenia.	false
+6d5fd4fdf0ce82eef60b0d9e93b50c05af411692	The average number of @DISEASE$ number abnormalities in individual @PHENOTYPICFEATURE$ was 76 (range 1-318).	false
+b23554ab631fee29909d1e4875a6411f81adbbdc	@DISEASE$ deficiency induced by tetrathiomolybdate suppresses @PHENOTYPICFEATURE$ growth and angiogenesis.	false
+7d9c0a6f3aabfd62a64b03e58cacbf83b9d7f90a	Molecular study on @DISEASE$-mediated @PHENOTYPICFEATURE$ proteasome inhibition and cell death.	false
+43c910ae2ecc025153c70798f131b8b4e450674c	Short-term dietary @DISEASE$ deficiency does not inhibit angiogenesis in @PHENOTYPICFEATURE$ implanted in striated muscle.	false
+713f91df2b070292faefc9eca233c29a702caf66	Additionally, it has been demonstrated that @DISEASE$ affects @PHENOTYPICFEATURE$ growth and promotes metastasis.	false
+1a2850e58810cbe6efd81e9f798329a5cf534e94	A total of 223 genes were significantly differentially expressed between MYCN-amplified and single-@DISEASE$ @PHENOTYPICFEATURE$.	false
+a32c6585241bdc55d4a5c6deca396254da5d7496	The present disorder overlaps phenotypically with Lenz-@DISEASE$; nevertheless, the absence of diaphyseal @PHENOTYPICFEATURE$ and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.	false
+e3358565d92ac08fd74625677726c8b976f47168	The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal @PHENOTYPICFEATURE$ and proximal symphalangism in the present patient was not consistent with Lenz-@DISEASE$.	false
+b61f70259f1072ba5ebc3e57e881f594c38314cd	Mutations in the CRB1 gene cause severe retinal degenerations, which may present as Leber congenital amaurosis, early onset @PHENOTYPICFEATURE$, retinitis pigmentosa, or @DISEASE$.	false
+f9537aaa185fcc2ffc4af43157fcfb998e6b706f	CEP250 mutations associated with mild @DISEASE$ and @PHENOTYPICFEATURE$ in a Japanese family.	false
+b858b2436626e4cf00af7c29af7ee05ecc32eb97	Diagnostic criteria were: severe @DISEASE$ leading to severe visual impairment in early childhood, @PHENOTYPICFEATURE$, moderate overall obesity and normal intelligence.	false
+950f1d14779466fea8b48c59e6bd837b1ec13c31	Alstr?m Syndrome (AS) is a rare ciliopathy characterized by @DISEASE$, @PHENOTYPICFEATURE$, obesity, type 2 diabetes mellitus and cardiomyopathy.	false
+aad725d4b75d54518328b0e4930355ab497ede05	This case shows that a CDH3 mutation besides macula dystrophy can cause widespread @DISEASE$ with hypotrichosis without any other pathology besides @PHENOTYPICFEATURE$.	false
+64b5b1a3c972550fe4f32163bd6a6bf1ec74891d	Mutations in C8ORF37 were previously associated with severe autosomal recessive @PHENOTYPICFEATURE$ (retinitis pigmentosa RP64 and @DISEASE$ CORD16) but not BBS.	false
+dfef608d91fdc06e62f7273abc488cf5ce1239db	Both affected siblings had @DISEASE$ with impaired visual acuity, @PHENOTYPICFEATURE$ and truncal obesity.	false
+3905120f4a101c2f18feaeff4cbc2d7e8abdfb05	Clinically, patients with Alstr?m syndrome develop @DISEASE$ leading to eventual blindness, @PHENOTYPICFEATURE$, and normal intelligence.	false
+eb2e2e66567bbf29bf7751f51ac8df7507121154	@DISEASE$ (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous @PHENOTYPICFEATURE$.	false
+598c476829dff15f34e251b176ec0b38d17f3b8e	The syndrome is characterized by @DISEASE$, dilated myocardiopathy, childhood obesity and @PHENOTYPICFEATURE$.	false
+be126ad43860cf6c871f87b24c5cfe39cef1ec81	We report on an 11-year-old boy with @DISEASE$ type I associated with @PHENOTYPICFEATURE$ and nystagmus, but not with ocular motor apraxia.	false
+ce14d6ea52a14e0a093956da0325f4af06ed10d8	The incidental finding in two patients of heterozygosity for the 250 kb recurrent deletion at the NPH1 locus, associated with autosomal recessive @DISEASE$, which was inherited from a healthy parent, highlights the fact that inherited aberrations might be disease-related even though not causal for @PHENOTYPICFEATURE$.	false
+245bd75edc7633f01d5dbb04104ad01a4fd3c1e2	The combination of TQ and @DISEASE$ caused a significant decrease in @PHENOTYPICFEATURE$ size with a percentage cure of 60%.	false
+180b7ad88e4fce3b8ac6236cee0c41cf509a1a86	Recognition of CPDC pretreated LCL in the in vitro mixed lymphocyte @PHENOTYPICFEATURE$ (@DISEASE$) cell assay for the activation phase of cellular immunity is reduced.	false
+a0cd386fd5b46bcabfc7b7e9087e59f7e1a89a45	These preliminary results would suggest that the pineal hormone @DISEASE$ may be successfully associated with IL-2 in the immunotherapy of human @PHENOTYPICFEATURE$.	false
+0aa072c747d1e5c79898de3368ff565ab81b336b	The overall @PHENOTYPICFEATURE$ regression rate achieved in patients concomitantly treated with @DISEASE$ was significantly higher than that found in those treated with chemotherapy alone.	false
+ec6b745d1dd0b05ec636c5050eeba72d17d47a2e	In a second study, we evaluated TNF serum levels in 10 metastatic solid @PHENOTYPICFEATURE$ patients under therapy with @DISEASE$ alone (20 mg/day orally in the evening for at least 1 month).	false
+7978d676cc92cd4cd7641e47c175889132c02a25	On this basis, a phase II study with TMX plus @DISEASE$ has been performed in untreatable metastatic solid @PHENOTYPICFEATURE$ patients.	false
+ce66862c72fcf4c790095f43c754963044f1e61e	The association of lL-2 with @DISEASE$ provided a further improvement in the percentage of @PHENOTYPICFEATURE$ regressions and of 3-year survival with respect to MLT alone.	false
+740ffd8dad72941cc47020a554f237cdd286c3b9	Furthermore, tumor growth was significantly inhibited when the DNA vaccine was combined with @DISEASE$ and the survival time of TC-1 @PHENOTYPICFEATURE$ bearing mice was also significantly prolonged.	false
+2b7a1fbe0c0902d4a2fc4ef138d5bbe7c14a1e5f	Furthermore, @PHENOTYPICFEATURE$ growth was significantly inhibited when the DNA vaccine was combined with @DISEASE$ and the survival time of TC-1 tumor bearing mice was also significantly prolonged.	false
+0d23bd6d72c1e9b0be7a0f353d9391afeff46b45	This pilot phase II study would suggest that the concomitant administration of the pineal hormone @DISEASE$ may induce objective @PHENOTYPICFEATURE$ regressions in metastatic breast cancer patients refractory to TMX alone.	false
+80b0fed4ee3c97e77b5e045cda7802ae35a78117	This phase II study would suggest that the neuroendocrine combination with TMX plus @DISEASE$ may have some benefit in untreatable metastatic solid @PHENOTYPICFEATURE$ patients, either in controlling cancer cell proliferation or improving the PS.	false
+dd42d8fbd8096a16ba5199a89e87e4e2f9f1302a	Conjunctival biopsies from 11 patients with @DISEASE$ (AKC) and from 13 age-matched healthy individuals undergoing @PHENOTYPICFEATURE$ surgery were analyzed by light microscopy and immunohistochemical techniques.	false
+5c81219753a3c393b0388bac638b876d0e13c275	Five events, potentially linked to HCV infection, occurred in our anti-HCV positive patients: 2 cases of porphyria cutanea, 1 case of unexplained @PHENOTYPICFEATURE$, 1 @DISEASE$, 1 death for non-Hodgkin's lymphoma.	false
+57b94125d21bb1e55d2ad70fb1b69869099d4095	Hypocomplementemic urticarial vasculitis (HUV) is a rare form of @DISEASE$ characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant @PHENOTYPICFEATURE$.	false
+f0c4609e6a8d7c3b6902b6b4796f468ec2b41df4	The inclusion/exclusion criteria were histologically documented @DISEASE$, elective surgery, laparotomic surgery, no second @PHENOTYPICFEATURE$, age 20-80 years, no cardiovascular, hepatic or renal failure.	false
+54b02185e822958f0b34a0de2f5556c1ce5a1d30	The inclusion/exclusion criteria were histologically documented @DISEASE$, elective surgery, laparotomic surgery, no second tumour, age 20-80 years, no cardiovascular, hepatic or @PHENOTYPICFEATURE$.	false
+ad0c2950b64cdb18ebf94c4165404c7ba8476540	Studies in patients with @DISEASE$, noncolonic @PHENOTYPICFEATURE$, and conditions predisposing to colorectal cancer.	false
+5bdeb2c1a2f8fbfab82aca632d8f6446c266d21e	Studies in patients with colorectal cancer, noncolonic @PHENOTYPICFEATURE$, and conditions predisposing to @DISEASE$.	false
+8bff81f51ca3430449626469ce2d562bfd800a3e	The same methods were used to examine associations between smoking and methylation data from a case-control study of @DISEASE$, and we also explored the effect of cell-type adjustments on associations between @PHENOTYPICFEATURE$ cases and controls.	false
+bf01c2f168e6f0a9bb0e4caa9b9bd2803779b9b7	[@DISEASE$ - personalized, stage-adjusted @PHENOTYPICFEATURE$ therapy].	false
+d8121b7c4888cc57ce3c7a18438a213b7319faeb	The @PHENOTYPICFEATURE$ microenvironment dilemma in @DISEASE$.	false
+7d48869eb630c524e8cf47aa0e855c955be915ef	By univariate analysis, site of primary @DISEASE$, preoperative carcinoembryonic antigen (CEA) level, size of metastases, number of metastases, length of operation time, percentage mean arterial pressure, number of @PHENOTYPICFEATURE$ episodes, duration of hypotensive episodes, and whole blood transfusion significantly affected recurrence rate following resection.	false
+a21bdc5ca0aaf8d97fda4cc2aa3459015ebc4914	By univariate analysis, site of primary @DISEASE$, preoperative carcinoembryonic antigen (CEA) level, size of metastases, number of metastases, length of operation time, percentage mean arterial pressure, number of hypotensive episodes, duration of @PHENOTYPICFEATURE$ episodes, and whole blood transfusion significantly affected recurrence rate following resection.	false
+0b222b85e3f026491036741912990e49b22e0727	Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (@PHENOTYPICFEATURE$, @DISEASE$).	false
+035ac365ed7540e9c5bf5c59cfe8571dca02d3b9	Feasibility of using cetuximab and bevacizumab in a patient with @DISEASE$ and terminal @PHENOTYPICFEATURE$.	false
+fb168aa3261bf7343296f31638ca7b27440863a2	All @PHENOTYPICFEATURE$ were @DISEASE$.	false
+4de7efbc38b5bd3c0d713cfb38cfe64903cd5fe1	@DISEASE$ is a refractory tumour in digestive tract @PHENOTYPICFEATURE$.	false
+f559d360091cf991a4cbc085667a0d96844c3e7a	@DISEASE$ is a refractory @PHENOTYPICFEATURE$ in digestive tract tumors.	false
+963a558057d2e5138d214adbcb4381b6874bb242	@DISEASE$ and @PHENOTYPICFEATURE$ in Ebf2-null mice.	false
+1e7c98d584bb37df3b6e2de5d649103c1e2567f4	The syndrome of M?bius sequence, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+537310f2b5bd6077f2330f52d208402f0c034248	He had previously suffered from orbital myositis, central diabetes insipidus (DI), @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0481eab348ed8dd20cd8ae405560d23bc508882e	We report on a 17-year-old Japanese boy with M?bius sequence, @PHENOTYPICFEATURE$, and @DISEASE$, the fourth such case known to us.	false
+d4963e1465a1cac9cbae47050e6a7f88e0de2af9	However, considering the high rate of association of isolated @DISEASE$ and Moebius syndrome with @PHENOTYPICFEATURE$, the present case may indicate a causal relationship between isolated ACTH deficiency and Moebius syndrome, reflecting the disorders in the organ systems derived from a common ectoderm.	false
+ec5cff6d9f381f47a9b2ce5155f7b47567459bc8	Ebf2-null mice reveal a novel genetic cause of @DISEASE$ and @PHENOTYPICFEATURE$ in the mouse, disclosing an important role for Ebf2 in neuronal migration and nerve development.	false
+b8fd06bca81060d4400e2ff5151f2a829d66c215	The association of @PHENOTYPICFEATURE$ and @DISEASE$ in M?bius sequence seems to be more than coincidence.	false
+dfa303c2d1dd83451708108618cc1ee54c56478d	We describe a 32 year old man who presented with contractures, @PHENOTYPICFEATURE$, primary adrenocortical insufficiency adn @DISEASE$.	false
+635be0d0d46982546733040abbfa3199212f247a	Manifestation of Neurosarcoidosis includes partial- and grand-mal seizures, low-grade fever, headache, increased intracranial pressure, visual disturbances, diabetes insipidus, amenorrhea- galacterorrhea syndrome and pituitary failure, @DISEASE$, hyperprolactinemia, unilateral and bilateral facial palsy, infiltration of meninges (aseptic meningitis) and nerve roots, leptominingitis, pachymeningitis with cranial neuropathies, pseudotumor, mild cognitive disorder, psychosis, delirium, dementia, disorientation, amnesia, progressive visual deterioration and proptosis, axonal polyneuropathies, mononeuropathies, chronic polyradiculoneuritis, peripheral neuropathy, cranial nerve abnormalities, radiculopathies, @PHENOTYPICFEATURE$, mononeuritis multiplex, progressive numbness and deep sensation disturbance in bilateral lower extremities, hemiplegia, hyperreflexia with pathological reflexes and hypesthesia, upward gaze palsy, spinal cord compression, dysarthria, dysphagia, weakness, episodes of blurred vision, diplopia, intracerebral hemorrhage, neuro-ophthalmic manifestations, intranuclear ophthalmoplegia, dysorientation, vasculitis presenting with strokes, intracranial hypothalamic lesion, paresthesis, hemiparesis, myelopathy in the cervico-thoracic region, lumbar pain, sensory level and inability of lateral gaze (Tab.	false
+07af786946f2cc0e8d44e32c46944b53247d83b1	Manifestation of Neurosarcoidosis includes partial- and grand-mal seizures, low-grade fever, headache, increased intracranial pressure, visual disturbances, diabetes insipidus, amenorrhea- galacterorrhea syndrome and pituitary failure, @DISEASE$, hyperprolactinemia, unilateral and bilateral facial palsy, infiltration of meninges (aseptic meningitis) and nerve roots, leptominingitis, pachymeningitis with cranial neuropathies, pseudotumor, mild cognitive disorder, psychosis, delirium, dementia, disorientation, amnesia, progressive visual deterioration and proptosis, axonal polyneuropathies, mononeuropathies, chronic polyradiculoneuritis, @PHENOTYPICFEATURE$, cranial nerve abnormalities, radiculopathies, peripheral neuropathy, mononeuritis multiplex, progressive numbness and deep sensation disturbance in bilateral lower extremities, hemiplegia, hyperreflexia with pathological reflexes and hypesthesia, upward gaze palsy, spinal cord compression, dysarthria, dysphagia, weakness, episodes of blurred vision, diplopia, intracerebral hemorrhage, neuro-ophthalmic manifestations, intranuclear ophthalmoplegia, dysorientation, vasculitis presenting with strokes, intracranial hypothalamic lesion, paresthesis, hemiparesis, myelopathy in the cervico-thoracic region, lumbar pain, sensory level and inability of lateral gaze (Tab.	false
+e00f4dd7f471c1ac874cfd0caf211030bc62e4ac	These disorders are seen primarily in males, who manifest the phenotypic effects of the deletion of the loci of various combinations of adjacent genes: Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal hypoplasia, optic @PHENOTYPICFEATURE$, @DISEASE$ and anosmia (Kallman syndrome), chondrodysplasia punctata and ichthyosis.	false
+6607c03d71f02d3019802d30a104dca1d9b1f751	This is a report of a 13-month-old girl with cleft palate, short stature, @PHENOTYPICFEATURE$, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, @DISEASE$ with cystic dysplasia of the kidneys, and developmental delay.	false
+d1690c8a2b7f85e5af5db8230b2b32cc3d3d5ad5	Age-matched controls were also identified with @PHENOTYPICFEATURE$ not related to a diagnosis of @DISEASE$ and CT imaging of the temporal bones.	false
+714e9e8392b0565de6985e30b51dd3f5ee2a2c67	The major features of the @DISEASE$ (BOR syndrome), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, deafness and renal dysplasia.	false
+d9b3fd50503c227b594b61bad1d16a9cdf76730b	Attentiveness to other malformations in newborns with @PHENOTYPICFEATURE$ is important, as they often appear as part of syndromes such as Goldenhar syndrome, Treacher Collins syndrome and @DISEASE$.	false
+b9d0a6c179354f4bd0173882f3d329e8d8fa009e	Inner @PHENOTYPICFEATURE$ are frequent but nonobligatory features of the @DISEASE$.	false
+71cd1c2533c85e35ae78d7b4a3d9a8218ef3ba59	The presence of a widened vestibular aqueduct and progressive @PHENOTYPICFEATURE$ in the @DISEASE$.	false
+434e212cb2c16a91040fe97fcb8afbb864f779dd	Congenital or developmental cervical kyphosis is a serious orthopaedic abnormality, which is associated with several syndromic associations such as @DISEASE$, diastrophic dysplasia, chondrodysplasia punctata, @PHENOTYPICFEATURE$ dysplasia, and neurofibromatosis.	false
+1b23797f0a3555e46f7bd68b91c16585633e85ba	Among our patients, @PHENOTYPICFEATURE$ was not more frequent than in patients without @DISEASE$.	false
+2c414d43a2267f0f2678a19b2ded5f42167fdd75	Other diseases, such as @DISEASE$, achromatopsia, colobomatous @PHENOTYPICFEATURE$, Dubin-Johnson syndrome, and congenital myasthenia gravis, were frequent in both the Iranian and Iraqi Jewish communities.	false
+dcfb3499b0c5a9ac801165ffd0b0401d8699ec10	Soon after the diagnosis of pellagra in a 20-year-old patient with @DISEASE$, bilateral intumescent @PHENOTYPICFEATURE$ rapidly developed.	false
+e828370293c48600fe4ebe8720d5f6cd8e3b2364	Rapidly progressing bilateral @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and pellagra.	false
+607a697404d6bff6936339c6465d067b7953f35a	[The mechanism of @PHENOTYPICFEATURE$ formation in persons with @DISEASE$].	false
+a5d7674f76077fc26170d569f9751af0c868db8f	@DISEASE$: An unusual cause of proximal @PHENOTYPICFEATURE$ in Saudi Arabia.	false
+be5989e128bbdab40d4d09c32f72e08afd282c88	On neurological examination, she had proximally dominant @PHENOTYPICFEATURE$, consistent with @DISEASE$ (LGMD2B); serum CK level was also markedly elevated.	false
+51783c0da441492e1460f086874dc8231ac793ce	Adult patients with psoriatic arthritis are at increased risk for @PHENOTYPICFEATURE$ and metabolic syndrome, but data regarding adiposity in children with @DISEASE$ (JPsA) are limited.	false
+fe5420f901d998401182dad8b974d177c0ccf4d5	As a result, it is suggested that another factor may be involved in the pathogenesis of the Charcot foot: an abnormal vasomotor reflex, analogous to @DISEASE$, occurring against a background of severe @PHENOTYPICFEATURE$.	false
+c8992a0501be75b3a613dbd48144a5479fec9328	Indications for SCS included failed back syndrome (114 patients), peripheral vascular disease (39 patients), @PHENOTYPICFEATURE$ (30 patients), multiple sclerosis (13 patients), @DISEASE$ (13 patients), and other etiologies of chronic intractable pain (26 patients).	false
+23310d6dcdcb4abe91d1b86ab3720193ad4880ee	As a result of @PHENOTYPICFEATURE$, @DISEASE$ (RSD) may occur in patients with electrical injuries.	false
+fed73f301dbb29d7eb58248d8ab62672b06abf27	These include excessive inflammation, hematoma, ischemic skin necrosis, infection, granuloma formation, transient paresthesia, @PHENOTYPICFEATURE$ contracture, persistent proximal interphalangeal (PIP) flexion contracture, distal interphalangeal (DIP) hyperextension deformity, joint stiffness, poor flexion and grip strength, pain, and @DISEASE$ (RSD).	false
+90a1429d07369006a715d90d78f566f5f80cc72e	Pain attributable to failed back syndrome, @DISEASE$, peripheral vascular disease of lower limbs, multiple sclerosis, and @PHENOTYPICFEATURE$ responded favorably to spinal cord stimulation.	false
+765d5c354c8d02eac52becb2904f8ff61c5149bf	Antineuronal autoantibodies are associated with the @PHENOTYPICFEATURE$ disorder Sydenham chorea (SC) and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) which are characterized by the acute onset of tics and/or obsessive compulsive disorder (@DISEASE$).	false
+fb7aba1488a145d8911d30afac36f5145a702a2b	Novel findings of @DISEASE$, microform cleft lip and @PHENOTYPICFEATURE$ in patient with SMC1A-associated Cornelia de Lange syndrome.	false
+3a0a58e6453eb2e0b997d4147b5a806b389f2942	The disease becomes symptomatic during childhood and is characterized by progressive @DISEASE$, progressive @PHENOTYPICFEATURE$, growth retardation, and periodic episodes of hyperammonemia.	false
+7d5555318d3044eb375ea5957b2bce6d413ee10d	An 11-year-old female with @DISEASE$ was seen in the emergency room with @PHENOTYPICFEATURE$, vomiting and anorexia.	false
+bb24ea830ad94f4acfd4e883e5aabf84e6dfe02a	An 11-year-old female with @DISEASE$ was seen in the emergency room with abdominal pain, @PHENOTYPICFEATURE$ and anorexia.	false
+952ee2b2c3a2377705c6ed83cf1d049267843d45	A 44 year-old woman with @DISEASE$ (AML, FAB, M4E) developed @PHENOTYPICFEATURE$ during treatment with anthracyclines for AML.	false
+28a2245501ad01a2794dcdc65b02605b8ede6950	Four patients eventually died (2 of infection, 1 of @DISEASE$, and one of @PHENOTYPICFEATURE$).	false
+bd717ae8761f8bedb82aefeda05d1a5259c28d22	@PHENOTYPICFEATURE$ and @DISEASE$ occurred in less than 2 percent of the patients in each group.	false
+777ca3e5ccc3325e3f6768f2f619fe4f44f5f441	We hypothesized that @PHENOTYPICFEATURE$-induced myelopoiesis would promote the transition of myelodysplastic syndrome to @DISEASE$ and accelerate mortality in obesity.	false
+d6f9fba1b1bac3d6cca7c936c924b856ade9bd12	We hypothesized that obesity-induced myelopoiesis would promote the transition of myelodysplastic syndrome to @DISEASE$ and accelerate mortality in @PHENOTYPICFEATURE$.	false
+d3f8591441be392e65ada574e8ee9bf9a19e7423	Constitutive heterozygous GATA2 mutation is associated with @PHENOTYPICFEATURE$, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and @DISEASE$.	false
+258548e5d7bf72d0c058f678e9bb587dff5a48cb	FA displays bone marrow failure, @DISEASE$, and head and neck cancers, whereas BS is characterized by @PHENOTYPICFEATURE$, immunodeficiency, and a wide spectrum of cancers.	false
+730b7ec75a461b8d947d4d38395269210efb3835	The most frequent electrolyte abnormality was @PHENOTYPICFEATURE$, observed in 41 patients (63%), namely in 34 patients with @DISEASE$, and 7 with ALL; the main underlying pathophysiologic mechanism was inappropriate kaliuresis.	false
+f0b067dc4948210cfa7535092d0c58155d2c2bdb	A 68-year-old male presented with @DISEASE$, renal failure, @PHENOTYPICFEATURE$, and enlarged kidneys on renal ultrasound.	false
+0f42f6363a33bc3f1308eff77ce4458e37f83650	Impact of @PHENOTYPICFEATURE$ in favorable-risk @DISEASE$ patients receiving intensive chemotherapy.	false
+35e2930b7a560a10c824c39c199bec6c471be6d6	Clinical manifestations range from neutropenia, lymphedema, @PHENOTYPICFEATURE$, to severe viral and mycobacterial infections, bone marrow failure, and @DISEASE$.	false
+518a977ca302b8cb82b9359bf8642144b9e179e6	All 4 patients (15?%) had strong expressions of 4 @PHENOTYPICFEATURE$ markers (OCT 3/4, PLAP, ?-catenin, CD117), as did 5 other patients (19?%, ages 2-14 months) without GCT: 4 had XY GD, 1 had 46,@DISEASE$. ?-catenin was expressed in 96?% of patients in a cytoplasmic pattern, CD117 in 78?%, OCT 3/4 in 55?%, PLAP in 37?%, and AFP in 1 patient (4?%).	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+1e3354b40880085b8e70d54ee934bcdd33d4cb79	Congenital @DISEASE$-sylvian syndrome presenting with intractable @PHENOTYPICFEATURE$.	false
+41bde964467c25619786751f0dc1a2eef4491cca	Key therapeutic approaches include pharmacotherapy or cognitive behavioral therapy for most forms of interictal anxiety and better @PHENOTYPICFEATURE$ control for @DISEASE$-ictal anxiety.	false
+9df0520e39d985a106dde9a01bfea78e05add2bc	Congenital unilateral @DISEASE$-Sylvian syndrome in a patient with recurrent seizures, left @PHENOTYPICFEATURE$, and cognitive impairment.	false
+5719a26a6b30eeafc041b4bd3157e5ff739594ae	Congenital unilateral @DISEASE$-Sylvian syndrome in a patient with recurrent @PHENOTYPICFEATURE$, left hemiparesis, and cognitive impairment.	false
+e587927db77fd83da9ab585eb09d3c1d05543fbc	A variety of anxiety symptoms are seen in epilepsy, including symptoms exclusively before, during or after @PHENOTYPICFEATURE$ (@DISEASE$-ictal anxiety), symptoms resembling primary anxiety disorders, and anxiety directly related to epilepsy or its treatment.	false
+0f24d1ca2395f1542e90fba320ce9475a63c2998	We report a case of Congenital @DISEASE$-sylvian syndrome with intractable @PHENOTYPICFEATURE$, hypotonia and feeding problems since birth.	false
+9e79cd97c6207dd953cb4ee6b7c1704ce5417b3b	Total annual cost @DISEASE$ disorder (in billion ? 2010) was as follows: addiction 65.7; anxiety disorders 74.4; brain tumor 5.2; child/adolescent disorders 21.3; dementia 105.2; eating disorders 0.8; epilepsy 13.8; headache 43.5; @PHENOTYPICFEATURE$ 43.3; mood disorders 113.4; multiple sclerosis 14.6; neuromuscular disorders 7.7; Parkinson's disease 13.9; personality disorders 27.3; psychotic disorders 93.9; sleep disorders 35.4; somatoform disorder 21.2; stroke 64.1; and traumatic brain injury 33.0.	false
+b80bb68061c1b1435518f0a836ca7992556929e2	This case also expanded the presentation or typical phenotype of @DISEASE$ as the patient also presented with hypoventilation and skin @PHENOTYPICFEATURE$.	false
+8467f9647b888bb4434c30fde4fab274640e328b	Non-systematic review of the literature, searching articles since 2000 in PubMed with the terms "growth", "growth disorders", "failure to thrive", or "@PHENOTYPICFEATURE$" AND "immunologic deficiency syndromes", "@DISEASE$", or "immune deficiency" NOT HIV.	false
+8c1430aac847c9e7b9b2a353b2a91a38bb741fb9	The types of renal failure were similar to those described in @DISEASE$ and @PHENOTYPICFEATURE$--namely, functional renal failure in five patients and acute tubular necrosis in seven.	false
+735fbdb3038384be6f9d16372b06db2e29b05488	The types of @PHENOTYPICFEATURE$ were similar to those described in @DISEASE$ and cirrhosis--namely, functional renal failure in five patients and acute tubular necrosis in seven.	false
+556af288180d11016b8273cb85cea1e92db1a5d3	The types of renal failure were similar to those described in @DISEASE$ and cirrhosis--namely, functional @PHENOTYPICFEATURE$ in five patients and acute tubular necrosis in seven.	false
+d868d138a9d9de6cad560825601655b7fc52769d	This approach was used to study @PHENOTYPICFEATURE$ accumulation in rabbits with @DISEASE$ and acute hyperammonemia.	false
+5894ea0246ef15b81a1e0d1536ff1eee2236a8c7	Pathogenesis of @PHENOTYPICFEATURE$ in cirrhosis and @DISEASE$.	false
+8170ee267f09018c039fb9f568eaf31d303a42ed	WRS should be suspected in any infant who presents with permanent neonatal diabetes associated with @PHENOTYPICFEATURE$ and/or episodes of @DISEASE$.	false
+b99c6ca5dd858d7571b49251ebd335d8fd1d1286	Here, we present a similar patient who developed @DISEASE$ and hepatic encephalopathy after an uncomplicated @PHENOTYPICFEATURE$ surgery.	false
+810772cf03c63c6e7c540e97503b4bb88816c3e9	Shortly afterwards, she developed lactate acidosis and @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+ea088b3fc041217c362be2e7ee440adbf7477cf7	A fatal case of propylthiouracil-induced ANCA-associated vasculitis resulting in rapidly progressive glomerulonephritis, @DISEASE$, and cerebral @PHENOTYPICFEATURE$.	false
+17757586e6140b42001e4b8d64a862fb84aa89c8	Propylthiouracil (PTU)-induced antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis presenting with @PHENOTYPICFEATURE$, @DISEASE$, and cerebral angiitis is a rare yet fatal disease.	false
+2f0eedc7d9f7c0982672e3c96b269487845517b3	Propylthiouracil (PTU)-induced antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis presenting with renal failure, @DISEASE$, and cerebral @PHENOTYPICFEATURE$ is a rare yet fatal disease.	false
+f6feeedb256b0874e6e3b24560279a0232f32d63	@DISEASE$ following @PHENOTYPICFEATURE$ repair: a case of therapeutic acetaminophen toxicity.	false
+b01b5e6aa81c05f74ad0b6a1de4407ef832a8446	She presented with @DISEASE$, hemolysis, and acute anuric @PHENOTYPICFEATURE$.	false
+f32f05a69fd1bcd086ecec557b6f4fe7689379e8	Familial @DISEASE$ complicated with unconjugated hyperbilirubinemia and @PHENOTYPICFEATURE$.	false
+37da7181de0d35893ca8038509ff33c76af9ec72	A comparison of children with LGS and those with multiple seizure types without slow spike-wave complexes demonstrated that those with @DISEASE$ were more likely to have MR, history of IS, and multiple disabilities (MR, cerebral palsy, blindness, @PHENOTYPICFEATURE$).	false
+75ac37252baccd4ee3e30d44700797d09f749c3e	A comparison of children with @DISEASE$ and those with multiple seizure types without slow spike-wave complexes demonstrated that those with LGS were more likely to have MR, history of IS, and multiple disabilities (MR, cerebral palsy, blindness, @PHENOTYPICFEATURE$).	false
+5604dbd79457bf9215054d299a645d1ab3d32be9	We describe a patient who was classified as late-onset @DISEASE$, with evidence of mild @PHENOTYPICFEATURE$ on CT.	false
+8810c455eb5fd49254c3c316a209bd091148c821	Here we describe the case of a 45-year-old female patient with @DISEASE$, severe @PHENOTYPICFEATURE$, mental retardation and focal seizures.	false
+a8dbe1630a3990bc5620c2825460121e0f8d28a4	Patients with @DISEASE$ may be at high risk for @PHENOTYPICFEATURE$.	false
+a1421e553fd00cc9fe38c55ed379edd31f88588a	Major malformations such as cleft palate, @DISEASE$ and @PHENOTYPICFEATURE$ were observed in 11 out of 16 newborns from 3 pregnant sows which received 3.6 mg/kg/day.	false
+2e50cf61799404a85a19b18b9694cbba79b5e475	We present a male infant with @PHENOTYPICFEATURE$, cleft lip/palate, micrognathia, @DISEASE$, laryngeal stenosis and ostium secundum type atrial septal defect.	false
+1a500e96c5c912c25536725718a4c2256125699e	We present a male infant with hydrocephalus, cleft lip/palate, @PHENOTYPICFEATURE$, @DISEASE$, laryngeal stenosis and ostium secundum type atrial septal defect.	false
+28d91e92881862a342435064a8824a9423cf7255	Major anomalies missed in the oligohydramnios group included @PHENOTYPICFEATURE$, @DISEASE$, small ventral hernia, limb reduction defect, and anal atresia.	false
+732ae0b2868eb57f5fade10e071afa89868634cb	demonstrating typical clinical signs like craniofacial abnormalities, @PHENOTYPICFEATURE$, @DISEASE$, seizures, and a severe delay of psychomotor development.	false
+13307ca4f65b8cb151ceaa43b764e39c8cffa396	Polyhydramnios, intrauterine growth retardation, @PHENOTYPICFEATURE$, enlarged lateral ventricles, @DISEASE$ and cardiac defect were found.	false
+3dbc94bbce1195f4029d8f73068a39fd8e58aba1	The dead male fetus was aborted spontaneously, and had a @PHENOTYPICFEATURE$, a right @DISEASE$, and a constriction ring on the left lower leg.	false
+fb5aa1b2eeecf8872984404b4875477f6923fb24	The first patient was ascertained prenatally with ultrasound abnormalities, including ventriculomegaly, a single umbilical artery, a unilateral @DISEASE$, a ventricular septal defect, and intra-uterine @PHENOTYPICFEATURE$.	false
+e3c15dca0b2b9d3157f0b8988037ccf9cd69e2ec	A Kenyan baby girl of African descent who was born through a caesarean section presented in the new born unit of our hospital with bilateral @PHENOTYPICFEATURE$, bilateral polydactyly, camptodactyly and @DISEASE$.	false
+ce40c355cc311e299de96de2436b88694f390933	The parents opted for termination and in post mortem physical examination, a hydrocephalus fetus with marked Intra-Uterine Growth Retardation (IUGR) in addition to syndactyly of third and fourth digits, low set malformed ears, @PHENOTYPICFEATURE$ and @DISEASE$, was seen.	false
+5d413ead20f6f9711dac44a62da566e42f56e21a	The parents opted for termination and in post mortem physical examination, a @PHENOTYPICFEATURE$ fetus with marked Intra-Uterine Growth Retardation (IUGR) in addition to syndactyly of third and fourth digits, low set malformed ears, micrognathia and @DISEASE$, was seen.	false
+740b1469e4fb4575ad8ccdca0a1a641df44117b1	Additional abnormalities, such as @PHENOTYPICFEATURE$, holoprosencephaly, hydrocephalus and @DISEASE$, were found in 6 out of the 20 fetuses with no chromosomal abnormality.	false
+36f77eb160854f45cf0eebd79cba6376f3566e9c	Additional abnormalities, such as growth retardation, holoprosencephaly, @PHENOTYPICFEATURE$ and @DISEASE$, were found in 6 out of the 20 fetuses with no chromosomal abnormality.	false
+ee90cbcfd92a4893e47aa872844ea23001e8c93a	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, renal agenesia or hypoplasia, renal failure) with @DISEASE$-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+806fb5a32b7bc442943560e51ed4e4d9ef0803e0	Furthermore, we showed that this cell death machinery is involved in Eiger's physiological function, because decreasing the energy production-related genes suppressed @DISEASE$-dependent @PHENOTYPICFEATURE$ suppression, an intrinsic mechanism for removing tumorigenic mutant clones from epithelia by inducing cell death.	false
+6b49a370b232d0e4bb87e11a2b07b2db39743267	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+b48e1fd5570d5cce043a80b0c380ed5cb73bec95	@DISEASE$ (HSAN1) is a rare autosomal dominant inherited @PHENOTYPICFEATURE$ caused by mutations in the SPTLC1 and SPTLC2 subunits of serine palmitoyltransferase (SPT).	false
+aadb3c8616d64625cd3818cef7f0269f47d507d6	This review showed a moderate evidence of the association between hearing disorders and @DISEASE$, which is characterized by @PHENOTYPICFEATURE$.	false
+0febd840a5e7842054fc226815b33ccb0bbb0ce3	[Ocular malformations (microphthalmos, bandelette keratitis, @PHENOTYPICFEATURE$, optic subatrophy and cicatricial chorioretinitis) in a case of @DISEASE$].	false
+8d6ad2eb798d6e3e5a80da11a2b5063f252e8616	To determine the prevalence of @PHENOTYPICFEATURE$ and to develop evidence-based guidelines for audiologic monitoring of children born with @DISEASE$ infection.	false
+014d69c7fbb11122c2c57085b6200e063ae0017b	Epistaxis, petechial hemorrhages, subcutaneous hematomas, and @PHENOTYPICFEATURE$ resolved after treatment with corticosteroids; however, the owners requested that the mare by euthanatized because of infection with @DISEASE$ virus.	false
+252b36e9ccad02bf698fcbc92fb0cca64b9a0ebb	Hearing @PHENOTYPICFEATURE$ was significantly associated with @DISEASE$ after adjustment for age, noise exposure, and diabetes mellitus (odds ratio 1.97 95% confidence interval 1.04-3.75).	false
+d2a98165c31323648dcbee7d9a7dd5efbc91e2c7	To investigate a possible association between @DISEASE$ (FECD) and hearing @PHENOTYPICFEATURE$.	false
+354833484fefa4e8fbda9c58c8ebbd75bf7f5c7f	To investigate a possible association between Fuchs' endothelial corneal dystrophy (@DISEASE$) and hearing @PHENOTYPICFEATURE$.	false
+67023b5aaa6299f8e29a282aa6ca227df2733d03	V?FUCHS allows for standardized quantification of visual @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+855fc5eede108c9e58bc3cc4f2f90b4208755091	The V-FUCHS instrument is valid and reliable for assessing visual @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a70d5d90e13bdefe84e8274c2bff1b4a83727eb3	@DISEASE$ should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple @PHENOTYPICFEATURE$ syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and for the worry of being diagnosed with a cancer susceptibility syndrome.	false
+2eb1b225c9d243368d54e204c4bbfcb399efaeda	Pure CA can be due to @PHENOTYPICFEATURE$ as (hereditary or non-hereditary) cerebellar hypoplasia, @DISEASE$, or occasionally supratentorial abnormalities.	false
+ddfc7c334e6341d61421824775f590bb205bfd26	[Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+0ce375e77f9cc04f23e8d527a9472134e0d2bc59	@DISEASE$ and @PHENOTYPICFEATURE$ in 5p deletion.	false
+cf8c448737bb40bfa88b1bcfe84eeac1b8f48566	Therefore, the cerebellar hypoplasia in this puppy was consistent with diagnosis of primary @PHENOTYPICFEATURE$ comparable to @DISEASE$ in humans.	false
+e9ded088c9aa4252323cdfb9409b96d558c3a510	[Study of the evolution of a case of surgically-treated @DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+46f7e6fe105862b3555280f68951d968645383af	Association of severe autosomal recessive osteopetrosis and @DISEASE$ with @PHENOTYPICFEATURE$.	false
+06cedd9e9bb37c9915742a4e56dfe00e0a975371	Cranial ultrasonogram and computed tomography scan showed @DISEASE$, @PHENOTYPICFEATURE$ and hydrocephalus.	false
+814c1f267d23c6ca199a64cdd5b91c8d6bd2d7d3	Prognosis is excellent unless associated with other comorbid conditions such as @DISEASE$, holoprosencephaly, or @PHENOTYPICFEATURE$.	false
+67986b0d6c8f882a43511708d00c1942f2e73d22	Medical problems with increased risk of SS included spina bifida or meningomyelocele, @DISEASE$, brain tumor, cerebral palsy, epilepsy, impaired vision, @PHENOTYPICFEATURE$, and pulmonary disorders.	false
+5376339f6b08296e93796e7cac246d1bd85aea62	Medical problems with increased risk of SS included @PHENOTYPICFEATURE$ or meningomyelocele, @DISEASE$, brain tumor, cerebral palsy, epilepsy, impaired vision, mental retardation, and pulmonary disorders.	false
+fc5d00ea7e337ab43cfedf1109b236213a052072	Other findings were: Arnold-Chiari malformation, septo-optic dysplasia, @DISEASE$, @PHENOTYPICFEATURE$, migration disorders.	false
+876457e61429fc8ec48593b49eee0028e3e2cd28	We report on an 8(1)/(2)-year-old girl with severe pre- and postnatal growth retardation, @DISEASE$, facial asymmetry, oculocutaneous @PHENOTYPICFEATURE$ without misrouting and subluxation of the radial heads.	false
+891d041c10930534bb38daa116f726e1a61c0f92	@DISEASE$: a neurodegenerative disorder with @PHENOTYPICFEATURE$.	false
+16240eef8aaae1367b42942ed89039d357f3cde4	This review focuses on the actual status and recent advances in the treatment of immune-mediated neuropathies, including: Guillain-Barre syndrome (GBS) with its subtypes acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy, acute motor and sensory axonal neuropathy, Miller Fisher syndrome, and acute pandysautonomia; @DISEASE$ (CIDP) with its subtypes classical CIDP, CIDP with diabetes, CIDP/monoclonal gammopathy of undetermined significance (MGUS), sensory CIDP, multifocal motor neuropathy (MMN), multifocal acquired demyelinating sensory and motor neuropathy or Lewis-Sumner syndrome, multifocal acquired sensory and motor neuropathy, and distal acquired demyelinating sensory neuropathy; IgM monoclonal gammopathies with its subtypes Waldenstrom's macroglobulinemia, myelin-associated glycoprotein-associated gammopathy, polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome, mixed cryoglobulinemia, @PHENOTYPICFEATURE$, late-onset polyneuropathy syndrome, and MGUS.	false
+ea0a70802eea9ba43dbf60a29c7d33d5587f563e	Investigations for children with growth failure are required to distinguish between idiopathic @PHENOTYPICFEATURE$ due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such @DISEASE$ and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases.	false
+8e64fed43b1650d882209eb27900132ca626a15e	Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of @PHENOTYPICFEATURE$, such @DISEASE$ and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases.	false
+e593d774ec03af3a733073ee08e7d7f507d186d6	Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial @PHENOTYPICFEATURE$, and constitutional delays of growth and puberty, or both), primary causes of short stature, such @DISEASE$ and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases.	false
+468f350325f0aa2e8a1148b8fc93e61a238b1579	Accordingly, pendrin mutations with reduction or loss of transport function result in thyroid and inner ear abnormalities, manifested @DISEASE$ (Pendred syndrome) and non-syndromic hearing loss with an @PHENOTYPICFEATURE$ (ns-EVA).	false
+b0516202aee3132dd1f2022f576dd8702b62c304	@DISEASE$ @PHENOTYPICFEATURE$ and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping.	false
+ec63244d99173359614b98f739e4b3b969cccf72	He had a micropenis, small soft testes with @DISEASE$, and sensory-motor @PHENOTYPICFEATURE$.	false
+8c8b0b45de8798a2b5ca38366b53e4e37ca9717c	[Likely degenerative affection with predominant sensory systems involvement (@DISEASE$, agueusia, @PHENOTYPICFEATURE$) (author's transl)].	false
+71e5e21e1791280959c03881f40f2ee53da2401a	A newly recognized neuroectodermal syndrome of familial alopecia, @DISEASE$, @PHENOTYPICFEATURE$, and hypogonadism.	false
+8bf70d2b030da05145f5394ec550e4f07d302774	On detailed evaluation he had @PHENOTYPICFEATURE$, features of hypothalamic hypogonadism as evidenced by endocrimological tests and @DISEASE$ since birth.	false
+51628c329a2b0b62a91ac5bf0bf31852092ad885	Additionally, he showed @DISEASE$, sensory @PHENOTYPICFEATURE$, and blue irises.	false
+acdc5b72bc8f03696927594a9858280eaa2aacac	Later on, amaurosis, @PHENOTYPICFEATURE$, @DISEASE$ and generalized muscular hypotonia developed.	false
+82a16c0c95abd91300aa05d4f5a10d1339254114	Typical ring-scotomas, retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$, and high plasma phytanic acid level were present in extensive examination.	false
+a27b5f130878127ccb9c9220d4eab544ff8944cb	Parkinsonism, myoclonus, @DISEASE$, insomnia, speech, and @PHENOTYPICFEATURE$ were identified.	false
+9512d16f46a14b4fb242c7114cbb7d67690740e4	One patient had @DISEASE$ and one @PHENOTYPICFEATURE$.	false
+ed2edf2f3c2b88de35d5c747a3487021debc8a18	[Bilateral @PHENOTYPICFEATURE$ with vestibular disorders and @DISEASE$ after blunt skull trauma].	false
+7f867e0124c5d5028b02bfcecad782a930c30107	@DISEASE$ (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-@PHENOTYPICFEATURE$.	false
+6169057de4f28847fd47fc15f06c5325b9d5f239	A 2-year-old spayed female Whippet with @DISEASE$ and nephrotic syndrome was treated with a specific thromboxane synthetase inhibitor (3-methyl-2[3-pyridyl]-1-indoleoctanoic acid), resulting in decreased proteinuria and resolution of ascites and @PHENOTYPICFEATURE$.	false
+3bdb2122c776b762475a1e140cedc5f4aa877af5	[@DISEASE$ associated with "chronic polyneuropathy with skin hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$ and abnormal immunoglobulins" (author's transl)].	false
+b1e828eac0f30d4dbee31811d9313143efcab633	[@DISEASE$ associated with "chronic polyneuropathy with @PHENOTYPICFEATURE$, hypertrichosis, edema and abnormal immunoglobulins" (author's transl)].	false
+60aac761ce8b41315347ae3cd6fa1f9f986a32d4	[@DISEASE$ associated with "chronic polyneuropathy with skin hyperpigmentation, @PHENOTYPICFEATURE$, edema and abnormal immunoglobulins" (author's transl)].	false
+b72a717b4ac5089500b48bc226625f6192042f9e	We report on a patient who suffered from progressive @PHENOTYPICFEATURE$ and renal insufficiency caused by cryoglobulinemic @DISEASE$ (MPGN), probably due to chronic hepatitis C virus (HCV) infection.	false
+ab8cbb34719609fb9dcac8fbd21f9e031a3fea8e	The purpose of this study was to determine whether young males with @DISEASE$ display atypical auditory brainstem function compared to typically developing males when conductive and @PHENOTYPICFEATURE$ are ruled out as possible contributors to atypical findings.	false
+a0fa837b225ec02fbe40486094ec8270dc1df8f0	Sequence alterations in untranslated regions (UTRs) of genes are important contributors to human diseases, including hereditary thrombophilia, hereditary hyperferritinaemia-@PHENOTYPICFEATURE$ and @DISEASE$.	false
+f0fdd46a987f8c84630417e4dc33436467528937	Only one of 86 females had @DISEASE$: Her most relevant findings were a long face and high forehead, an attention deficit, hyperactivity and @PHENOTYPICFEATURE$ contact.	false
+4f9b0309fe1016a06309e25fd39e66649c7ba46d	Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with @PHENOTYPICFEATURE$ in males of normal intelligence and the pre-mutation carrier state of the @DISEASE$.	false
+3e93c08030da548080fe45e7da54d24ea4e27b79	Apart from @DISEASE$ and Prader-Willi syndrome (with in general mild to moderate ID), the other syndrome groups contained one or more subjects with @PHENOTYPICFEATURE$ or blindness.	false
+db013faf1608fc59d276f477838d09b875e538b0	We report a case of a 17-year-old institutionalised male with a medical history of @DISEASE$, bilateral congenital glaucoma, @PHENOTYPICFEATURE$ and pica disorder.	false
+5889ed2906763d91b07bf26a49f55f6b203136a8	Total ocular symptom score (TOSS), total naso-ocular symptom score (@DISEASE$), Allergic Rhinitis and Its Impact (ARIA) on @PHENOTYPICFEATURE$ classification, and safety were the main secondary end points.	false
+970c3f3a2ead5f9ed3b12e595e5f838f0ab2a501	The aim of this study was to examine the effect of toki-shakuyaku-san (@DISEASE$) on mild @PHENOTYPICFEATURE$ (MCI) and Alzheimer's disease (AD) using single-photon emission computed tomography (SPECT).	false
+512f91877bf32ded68a3cf8764253c7cf47a42ef	The resting arterial plasma MHPG concentration mirrored sympathetic function in the patients with @PHENOTYPICFEATURE$ (sympathetic activation) and @DISEASE$ (sympathetic denervation), with mean MHPG plasma concentrations being 180 and 40% of those in healthy subjects.	false
+f301c71febcd7e349d9b5af68804a55a6d3ea913	A platelet-activating factor (@DISEASE$) receptor deficiency exacerbates diet-induced obesity but PAF/PAF receptor signaling does not contribute to the development of @PHENOTYPICFEATURE$-induced chronic inflammation.	false
+6a74f0fa61ccb93a90a9f0c674c42e47618f6d91	Sixteen patients with chronic @PHENOTYPICFEATURE$ (CHF) and 6 patients with @DISEASE$ (PAF) were also studied to investigate possible effects of sympathetic nervous system overactivity and underactivity on peripheral HVA production and plasma HVA concentration.	false
+efc7672db7f1b35ca84cd13595b01b2e7cd4bb31	Dermal melanocyte @PHENOTYPICFEATURE$ and @DISEASE$A.	false
+cb9c545c629153f9b9d3d91d055b8d855cdd57d2	Based on clinical criteria, hereditary forms have been traditionally divided into distinct entities, such as familial amyotrophic lateral sclerosis, hereditary motor neuropathy, spinal muscular atrophy, familial spinal @PHENOTYPICFEATURE$, and @DISEASE$, also known as hereditary motor and sensory neuropathy II.	false
+da5f671d99ed5cb23efdda4590cba16259fcd91e	@DISEASE$ with solitary crossed renal ectopia, vesicoureteric reflux, and @PHENOTYPICFEATURE$.	false
+8561e2411a519a61e32098206dcaa5d1579c44d5	Conditions that are often associated with an increased incidence of @PHENOTYPICFEATURE$ include imperforate anus, congenital vertebral abnormalities, and @DISEASE$; excretory urography should be done if such a condition is present.	false
+b2da5bf199f8e4aceed8073b447d5d31ee40ccf8	Although characterized by seizures, @PHENOTYPICFEATURE$, and loss of motor skills, the first presenting symptom of @DISEASE$ is vision loss.	false
+ad2b3bb51464c075f90db7a875a00d631c5d91b1	Morphological and glucose @PHENOTYPICFEATURE$ in alcoholic @DISEASE$: group comparisons and individual analyses.	false
+f44d3b7c36c93741956e58a36b95872312ebc23a	In contrast, analogous to the @DISEASE$, ocular motor and @PHENOTYPICFEATURE$ may show only partial improvement.	false
+c4d0562b8aa6c5dcd8953d4a6b7c18fd3e73c85c	[Anosognosia of blindness caused by @PHENOTYPICFEATURE$ during @DISEASE$ due to bilateral necrosis of the hippocampus].	false
+6aa67a9391af195af53ab0150adf6d18df7cc300	Examination disclosed that there were bilateral @PHENOTYPICFEATURE$, left hemiplegia with hyperreflexia and pathological reflexes, hypesthesia in the left side of the face and @DISEASE$, chiefly consisting of confabulation.	false
+f92bafafd2a236cc26cb53cd85f5c627ac1f53fe	Bi-allelic CSF1R Mutations Cause @PHENOTYPICFEATURE$ of @DISEASE$-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.	false
+2664e9bba0952d39b4126a792d4388c879063b92	@DISEASE$ is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by osteosclerosis and platyspondyly.	false
+7f78c2bf70083f74d7c368e16d5befec702d26b7	@PHENOTYPICFEATURE$, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of @DISEASE$.	false
+172a645b97735b2eb16aee4033234d7b9f3977de	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with @DISEASE$/osteosclerosis/multiple @PHENOTYPICFEATURE$ spectrum Previously, radiographs only have assessed the skull base pathology in patients with dysosteosclerosis, here we further characterize the pathology via 3DCT scan.	false
+8d1a41026133979b23e4471ded27ef3049263b2a	3DCT scanning of the skull base and the vertebrae could be useful tools for early recognition of the pathophysiological mechanism in patients with dysosteosclerosis/osteosclerosis/multiple @PHENOTYPICFEATURE$ spectrum Previously, radiographs only have assessed the skull base pathology in patients with @DISEASE$, here we further characterize the pathology via 3DCT scan.	false
+2bd3112496ac88e1eebb63032b44090aeb86b41d	The following prevalence of cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; @DISEASE$, 7/17; retarded growth and development, 11/13; genital abnormalities, 5/18; ear anomalies, 15/17 and @PHENOTYPICFEATURE$, 14/15.	false
+024ef83e9e51a781a6be875fa7d94aeda4b01534	The following prevalence of cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; @DISEASE$, 7/17; retarded growth and development, 11/13; genital abnormalities, 5/18; @PHENOTYPICFEATURE$, 15/17 and sensorineural hearing loss, 14/15.	false
+a38ba00c3a4c1399d54e8c3333c902c3dd113627	Mutations in chromosome-helicase-DNA-binding protein 7 (CHD7) are identified as the main cause for CHARGE syndrome (coloboma, heart anomaly, @DISEASE$, retardation, genital and @PHENOTYPICFEATURE$).	false
+119972b42c4400824019a26d45fb29348cd18900	We describe a term baby girl with (CHARGE syndrome coloboma, heart anomaly, @DISEASE$, retardation, and genital and @PHENOTYPICFEATURE$ association) who had persistent complete absence of the Moro reflex but preservation of other primary neonatal reflexes.	false
+9b1ef8febec98b946729c763852b4a973dd30578	This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, @DISEASE$, mental retardation, genitourinary, and @PHENOTYPICFEATURE$ (CHARGE) syndrome.	false
+cb853ac25dd0676c6753b2afaaf49598e11366a9	This paper describes the CT findings that characterize the middle and inner @PHENOTYPICFEATURE$ in coloboma, heart defects, @DISEASE$, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome.	false
+668967da94ea7aa5f156c34fa314a54ba5750c95	CHARGE association is a recently described cluster of congenital defects including ocular coloboma, heart disease, @DISEASE$, retarded development and/or CNS abnormalities, genital hypoplasia, and @PHENOTYPICFEATURE$.	false
+6b4240af57e43507ff325aa0eeec998de17d9e8d	CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, @DISEASE$ or stenosis, retarded growth and development, genital hypoplasia, and inner and outer @PHENOTYPICFEATURE$ including deafness.	false
+803b333dc4a506da512be3fbe34eb10566feef9b	Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, @DISEASE$, retardation, genital and @PHENOTYPICFEATURE$ syndrome has been considered in differential diagnosis.	false
+5d875dc59e95686f033212cc986018c9c15fbcd8	Clinical examination showed atypical CHARGE syndrome, with @DISEASE$, a heart defect, and @PHENOTYPICFEATURE$.	false
+7314363e7d153e2323d3af5866da6f0d8c9ce8c1	CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, heart defects, @DISEASE$, mental retardation, genitourinary and @PHENOTYPICFEATURE$ that can affect almost any part of the auditory pathway.	false
+3bfb09d203c1934f3bff5c4701be5458d1e3fa20	Previous studies have reported that patients with the CHARGE association have congenital anomalies including: Coloboma; heart defects; @DISEASE$, retarded growth and development; genital hypoplasia; and @PHENOTYPICFEATURE$.	false
+bb18ffb448917be9105fa351e378cf6911a314a1	Ten children with disorders of keratinization (ichthyosis, 4, pityriasis rubra pilaris, 2, @DISEASE$, and @PHENOTYPICFEATURE$, 2) were treated with etretinate for 0.5 to 9.6 years.	false
+f9b5df56576b099f78510beb7c5e05a03c7a2d09	Cerebral magnetic resonance showed significant descent of the tonsils, @PHENOTYPICFEATURE$ hydrocephalia and a lesion in the left cerebellum, apparently laminar hyperintensity in DP and T2, with thickening of some folia, not enhanced by intravenous contrast and suggestive of a dysplasic @DISEASE$.	false
+52e40d22e0cf0529072a954e56f54282cfda5b46	Two patients who showed acromegaly and @PHENOTYPICFEATURE$ had a @DISEASE$ and a growth hormone (GH)-prolactin cell adenoma in close proximity.	false
+a8d3bda0772fe823152668a81de4728194e3f349	Increased ChT activity was detected in 8 (of 108) patients with various aetiologies, including NP-C, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0fb8a0fcb04461663eda6cd079ef85d3e41c334c	The different diseases of the transplants were: @PHENOTYPICFEATURE$ (9), Alagille syndrome (4), deficit alpha 1-antitrypsin (3), autoimmune hepatitis (2), neonatal hepatitis (1), @DISEASE$ (1), Wolman disease (1).	false
+385a31283280950a94d996f7e5f792cd4da2b04c	Sixty-two percent were cholestatic diseases (32 @PHENOTYPICFEATURE$, 3 sclerosing cholangitis and 2 biliary paucity), 25% metabolic hepatic-based diseases (6 glycogen storage disease, 4 @DISEASE$, 3 tyrosinaemia and 2 alpha-1-antitrypsin deficiency) and 13% miscellaneous diagnosis (2 post-hepatitic cirrhosis, 2 autoimmune hepatitis, 2 fulminant hepatitis and one case of cholesteryl ester storage disease and one case of Budd-Chiari disease).	false
+02d8cb9d099f60a9640c48795266a5b043cbd2fd	The primary liver disease was hepatocellular carcinoma second to viral hepatitis in 15 patients, Wilson disease in 7 patients, cryptogenic cirrhosis in 3, familial hypercholesterolemia in 3 patients, and 1 each patients of @DISEASE$, Caroli disease, tyrosinemia, Budd-Chiari syndrome, congenital hepatic fibrosis, alcoholic cirrhosis, and @PHENOTYPICFEATURE$.	false
+aa490900083cd87972d47dfeb5f08daacfaf96f0	From december 1984 to december of 1991, 12 children underwent on orthotopic liver transplantation (OLT): 6 had extrahepatic @PHENOTYPICFEATURE$ (EHBA), 2 had @DISEASE$, 2 hepatocellular carcinoma (HCC), 1 Alagille Syndrome and 1 had a hyperacute Wilson disease.	false
+2f3ecdf67be48f0ed3dc7a420d2ab4af58bfe8f3	Highlights include new discoveries for the role of the farsenoid X receptor and sodium-dependent taurocholate cotransporting polypeptide; new insights into the pathogenesis of @DISEASE$, @PHENOTYPICFEATURE$, intrahepatic cholestasis of pregnancy, and primary biliary cirrhosis; new information for assessing prognosis in biliary atresia and primary biliary cirrhosis; and important clinical trials in intrahepatic cholestasis of pregnancy, primary biliary cirrhosis and primary sclerosing cholangitis.	false
+e8658afc72597c4d30645127c3810beb0d572226	Thus far @DISEASE$ has been reported in three other patients with a variety of @PHENOTYPICFEATURE$.	false
+f665ac1f325296994dbd31fd428380f5f4747448	While MNGIE presents with gastrointestinal dysmotility, cachexia, and leukoencephalopathy, pyrimidinuria and @DISEASE$ may show symptoms of epilepsy, @PHENOTYPICFEATURE$, mental retardation, and dysmorphic features.	false
+08235d83a1e9375a35428fdcf75fe4cdbe82e3ba	The @DISEASE$ is a probably autosomal recessively inherited disorder characterized by mental retardation, dwarfism, and @PHENOTYPICFEATURE$ especially of the spine, pelvis and hands.	false
+8e6afe7b7d150f6e38b58ad5c99d96e7c6294526	These features include: histologic confusion with desquamative interstitial pneumonitis, diffuse @DISEASE$, eosinophilic @PHENOTYPICFEATURE$; cysts filled with air and/or fluid; radiographic onset in the eighth decade of life; intratracheal mass; and focal parenchymal consolidation.	false
+ab78162df63d54ac5dc46f6272c8b600a2f192d3	[Cytological study of the lymph nodes in @DISEASE$ and undifferentiated microcellular @PHENOTYPICFEATURE$].	false
+84378c7aeb9c57c70f49afee08398f5abf7d5f4b	Out of three patients with @DISEASE$, one patient had severe visual impairment caused by @PHENOTYPICFEATURE$ and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had Rieger's anomaly.	false
+f8fc1a951921dadabaf2b692e00f76cc1a780f72	Bilateral congenital @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a8b03081bffc042628deb244fe330e22acd7205a	Although described classically in @DISEASE$ and bipolar disorder, physical disorders including migraine, @PHENOTYPICFEATURE$ and trauma have also been associated with the syndrome.	false
+c9bd567c41d12721ff46fafb27284c8a690f5a0f	The author predicted that if the pathophysiology of @DISEASE$ confers protection from cancer, then the immunology of schizophrenia should reflect a state of tumor suppression, ie, the opposite of @PHENOTYPICFEATURE$ escape.	false
+87f4289b001e5ae7dbeec4b42b93cac500d0e7d2	The author predicted that if the pathophysiology of @DISEASE$ confers protection from cancer, then the immunology of schizophrenia should reflect a state of @PHENOTYPICFEATURE$ suppression, ie, the opposite of tumor escape.	false
+43cc53f30aae055f668a17b118da7d19312dedd0	Disordered central nervous system development may produce evidence of cortical neuronal migration abnormalities in autism, smaller cortical structures in Down syndrome, frontal lobe deficits and larger basal ganglia in @DISEASE$, hypoplastic basal ganglia in Tourette's syndrome, aberrancies of the planum temporale in dyslexia, and @PHENOTYPICFEATURE$ structures in numerous developmental disorders.	false
+6a9744c463d8d1dbc97210aac9b59cf58a0b75a2	Apoptosis and @DISEASE$: is the @PHENOTYPICFEATURE$ suppressor gene, p53, a candidate susceptibility gene?	false
+54db9f77f832b694aa9464918247e7e1c4d183c6	The expression pattern of a variety of different microRNAs was investigated in patients (N = 6) suffering from schizophrenia termed control, patients with a solid @PHENOTYPICFEATURE$ (N = 10) and patients with both @DISEASE$ and tumor (N = 8).	false
+41a6c9a0533945cfa3d0a9055c365e05ec19a2cf	The expression pattern of a variety of different microRNAs was investigated in patients (N = 6) suffering from schizophrenia termed control, patients with a solid tumor (N = 10) and patients with both @DISEASE$ and @PHENOTYPICFEATURE$ (N = 8).	false
+c7ca895768932e914ffa58cff286a1e74ff0a61f	Our             results are in agreement with the theory that patients with @DISEASE$ may             have a @PHENOTYPICFEATURE$ suppressor gene or enhanced neuronal apoptotic activities.	false
+1a39a7c671672b6175dee451519b32b3e566638d	In an earlier interview study, we found that more men with familial schizophrenia had undergone @PHENOTYPICFEATURE$ operation, than men with sporadic @DISEASE$.	false
+b91a44b1d4d8977d51efc467de3be18ec80d3e97	They were selected for inclusion in the study if they fulfilled any of the following criteria: psychotic disorder (@DISEASE$ or affective disorder), family history of psychotic disorder, @PHENOTYPICFEATURE$ and/or lip, congenital heart disease, broadly defined facial dysmorphism or a history of hypocalcaemia.	false
+ffadb1328a76d59b1dc01441f57c8f9d812a3651	If @PHENOTYPICFEATURE$ in individuals with @DISEASE$ are associated with fundamental mechanisms and symptoms of the disorder, as suggested by the cognitive dysmetria model, then cerebellar-targeted treatments may provide a novel approach to treatment for schizophrenia.	false
+b0d3a1b92937ceb6fc8b9d8076df4829365d1d25	Association of @PHENOTYPICFEATURE$ necrosis factor -308G/A promoter polymorphism with @DISEASE$ and bipolar affective disorder in a Polish population.	false
+74bacfff6e720be05d049fc64251f4e74479c0dd	The clinical phenotype to some extent overlaps that of @DISEASE$ (PS), which comprises congenital nephrotic syndrome and distinct ocular abnormalities but which may also include neurodevelopmental deficits and @PHENOTYPICFEATURE$.	false
+adf5e234d0a4de176944333818520994200d9731	This study estimated the expected cost-effectiveness ratio expressed as the incremental cost per @PHENOTYPICFEATURE$-free day (@DISEASE$) gained and the incremental cost per quality adjusted life year (QALY) gained when using levetiracetam (LEV) as add-on therapy from a third-party payer perspective.	false
+0c02deb9d1f10294663c2a544e9c22f7c228f4f4	The endpoints of interest were "responder rate" (where response was defined as at least a 50% reduction from baseline in the number of seizures) and "change from baseline in @PHENOTYPICFEATURE$-free days over the last 28 days (@DISEASE$)".	false
+2b5742bebc77633b4b07fe457c4411c6b7d957ff	The endpoints of interest were "responder rate" (where response was defined as at least a 50% reduction from baseline in the number of @PHENOTYPICFEATURE$) and "change from baseline in seizure-free days over the last 28 days (@DISEASE$)".	false
+c2c73baf9b146c4962134f3948bb172fff42b385	When the resection of SMA gliomas is limited to the radiographic @PHENOTYPICFEATURE$ boundaries, the incidence and severity of @DISEASE$ syndrome may be minimized.	false
+202ee503ebbf899c0360010b4827decb7f3b60a2	When the resection of @DISEASE$ gliomas is limited to the radiographic @PHENOTYPICFEATURE$ boundaries, the incidence and severity of SMA syndrome may be minimized.	false
+46283bf41df1e125ca165ff8d529b4308f2c2a3e	Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-@PHENOTYPICFEATURE$ type 1 is a different entity from typical @DISEASE$.	false
+70bb3aecd509d8c01702f6128324157a55560b74	Biphasic intra-abdominal desmoplastic small cell @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+c2c73baf9b146c4962134f3948bb172fff42b385	When the resection of SMA gliomas is limited to the radiographic @PHENOTYPICFEATURE$ boundaries, the incidence and severity of @DISEASE$ syndrome may be minimized.	false
+202ee503ebbf899c0360010b4827decb7f3b60a2	When the resection of @DISEASE$ gliomas is limited to the radiographic @PHENOTYPICFEATURE$ boundaries, the incidence and severity of SMA syndrome may be minimized.	false
+39ba0c98d2638b6657b30d60e8e412ca8a5605f1	[Surgical treatments for the patients with @DISEASE$ @PHENOTYPICFEATURE$].	false
+9b0601195c6472119ddfb39146b55821140a0003	This series demonstrates that recurrent @DISEASE$ syndrome occurs in patients undergoing repeat resection of @PHENOTYPICFEATURE$ involving the SMA.	false
+a2a62ddbd451293dd6f0e1b847b97a7d3e679b55	A case is reported of intra-abdominal desmoplastic small cell @PHENOTYPICFEATURE$ (IDSCT) with biphasic histologic features in a patient with @DISEASE$.	false
+ded0abfcc1865ae553009c76f510851d28438758	The supplementary motor area (@DISEASE$) syndrome affects adults after @PHENOTYPICFEATURE$ resection in SMA neighbouring motor cortex.	false
+7f67c77fe7c0dd690c2e39902ec6ff592f1cad59	To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, Addison's disease, @DISEASE$, steroid myopathy and neurosis special diagnostic indices have been developed based on specific muscular weakness (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between @PHENOTYPICFEATURE$ and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis.	false
+4c18dcf622b21724041ec2af395629ab743cc697	To differentiate between thyrotoxic myopathy and myodystrophy (of the limb-girdle type), severe myasthenia, polymyositis, Addison's disease, @DISEASE$, steroid myopathy and neurosis special diagnostic indices have been developed based on specific @PHENOTYPICFEATURE$ (and atrophy) pattern early in the disease, the sequence of separate muscles involvement as the pathological process progresses, disproportion between muscular weakness and atrophy, excessive folds of the skin above the affected muscles and the presence of deep reflexes, purposeful analysis of the anamnesis.	false
+3e3c6513b86100bd48824ac2d4a60d6156ee9a8c	During awake surgery for SMA @PHENOTYPICFEATURE$, the above-mentioned motor symptoms could occur in area without positive mapping and might be predictors for reversible @DISEASE$ syndrome.	false
+f5dde8790edb96b7fbad1b4c83f841a55a89012a	During awake surgery for @DISEASE$ @PHENOTYPICFEATURE$, the above-mentioned motor symptoms could occur in area without positive mapping and might be predictors for reversible SMA syndrome.	false
+2a36e46c82c13cd1066734a83389bfaae155ab7a	@DISEASE$ were identified and quantified, inflammatory activity was assessed using @PHENOTYPICFEATURE$ imaging, DCE and DWI.	false
+60d28f6dd1cdfbcdcecf9be44d08aed54b38f281	Schinzel-Giedion syndrome (@DISEASE$, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, @PHENOTYPICFEATURE$ and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities.	false
+c7adaac6d16c65e03bd9f9b6ab3fff7d26f0966f	Histological lesions - mesangial proliferation (MP), leukocyte permeation (LP), fibrinoid necrosis and crescents (FNC), interstitial infiltrate (II), segmental glomerular sclerosis (@DISEASE$), glomerular obsolescence (GO), tubular atrophy (TA) interstitial fibrosis (IF) and interstitial @PHENOTYPICFEATURE$ (IE) - were graded according to extension and severity as normal (0%), mild (<25%), moderate (>25% <50%), and severe (>50%).	false
+ea005af9892789e75e94ff410e3c23cd3f2255e0	New syndrome of hydrocephalus, endocardial fibroelastosis, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a2fa86f76fea1945aa19497757bbbee983f6bb56	Hormonal contributions to the sex-dependent development of both @DISEASE$ (OCD) and @PHENOTYPICFEATURE$ have been described, but the underlying mechanisms are incompletely understood.	false
+df2e53d8983b3983163b3b81c5c0e60a8144ea06	Importantly, studies conducted in individuals suffering from mental disorders associated with abnormal emotional regulation, such as major depression, bipolar disorder, schizophrenia, post-traumatic stress disorder, anxiety and panic disorders, specific phobia, @PHENOTYPICFEATURE$, and @DISEASE$, have found structural and functional changes in the somatosensory cortex.	false
+057521903c9916d999c9eb1ee1c1665097b3ce0a	The clinician must also be aware of various effects of psychologic, sociologic, and biologic aspects of aging on the development of headache and atypical facial @PHENOTYPICFEATURE$ as components of @DISEASE$ in the geriatric patient.	false
+4e09155152af4a6848e7e7d5a8abe8863e363161	Painful craniomandibular dysfunction (@DISEASE$) is often misinterpreted as atypical facial @PHENOTYPICFEATURE$.	false
+929f3c43028a59361fdd32c372f44b8cc92a41a0	Analyses were conducted for six subtypes (ALL, AML, @DISEASE$, HL, NHL and BL) of @PHENOTYPICFEATURE$ and lymphoma.	false
+d6b9a01b0e8a0ebb551f1f45c7337da8a10a1092	Congenital muscular dystrophy with adducted thumbs, @PHENOTYPICFEATURE$, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of @DISEASE$.	false
+49cbc4d6e0db165e5efbd567ad6a816c1998c8fd	We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as @PHENOTYPICFEATURE$ and MR that were particularly emphasized during the 50th ENMC International Workshop on @DISEASE$ [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy.	false
+43de8bdb6d25e8c7e060c7d193e7b9195e5e0609	We consider these cases as corresponding to the rarer syndromes of merosin-positive @DISEASE$ with associated features such as @PHENOTYPICFEATURE$ and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy.	false
+661f23483fcb801420b645ed49438f5972b7fc60	While ocular malformations (@PHENOTYPICFEATURE$, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of @DISEASE$ (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known.	false
+7465c773e01ddf696fc2c6a906464fa4412598aa	While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and @PHENOTYPICFEATURE$) and damage to the Central Nervous System are described in some subtypes of @DISEASE$ (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known.	false
+356af52b8ca15f1af289df2ec2c7694fd4902cf7	The differential diagnosis of craniomandibular dysfunction (@DISEASE$) is of central importance for the therapy and diagnosis of chronic facial @PHENOTYPICFEATURE$.	false
+0ee08e80010b2899b63ba7fb1b3829cf04468e6d	We report on two brothers and an unrelated girl with congenital muscular dystrophy (@DISEASE$), brain malformation and ocular changes (strabismus, myopia, glaucoma, @PHENOTYPICFEATURE$, retinal dystrophy).	false
+cf99b14de281d662632e362a58025437731f5e86	To employ magnetic resonance imaging (MRI) to measure the volume of the inner ear endolymphatic space (ELS) in patients with acute low-tone @PHENOTYPICFEATURE$ (ALHL), sudden deafness (SD), cochlear Meniere's disease (@DISEASE$), and unilateral MD (uMD) compared with control subjects (CS) with chronic rhinosinusitis.	false
+c585df5417fa44855feddafc50fb166df80b797e	Craniomandibular disorders (@DISEASE$) and atypical facial @PHENOTYPICFEATURE$ (AFP) represent a clinical challenge.	false
+9eaf137f976d95f4157c577030f65119c6dfd34c	Meige's disease, @DISEASE$ praecox, is lymphedema with onset in the first or second decade, often presenting with inflammation, and may have a number of associated related anomalies including distichiasis, extradural cysts, vertebral anomalies, cerebrovascular malformation, yellow nails, and @PHENOTYPICFEATURE$.	false
+352da1f9aac9ee5346cc4315c5acbcd5da0791f7	The oral findings comprise @PHENOTYPICFEATURE$, @DISEASE$, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility.	false
+c5e424d157ca712de4060d6eb423bd48709b6863	Limb malformations have been associated with a spectrum of oral facial anomalies consisting of @PHENOTYPICFEATURE$, hypoglossia, microstomia, @DISEASE$, oral bands, and dysarthria.	false
+2048525841cf2ccb1c2af912b709bc06f466edb8	Oral and dental manifestations include @PHENOTYPICFEATURE$, retrognathia, @DISEASE$, and malocclusion based on cephalometric analysis.	false
+f5310353a7002837c0f669e1d6e3bc03f9bfdc52	Three-dimensional ultrasound evaluation revealed @PHENOTYPICFEATURE$ in 5 of the 6 fetuses with @DISEASE$.	false
+7f5b76a9127bac4c1ef9900b21376c3413676f7f	The dental anomalies include @PHENOTYPICFEATURE$, @DISEASE$, agenesis of permanent teeth, conic-shaped incisors, and taurodontic molars.	false
+20f00933df70fa7c8b2901c374586977e7a10694	@DISEASE$ and @PHENOTYPICFEATURE$: A rare defect caused by combination therapy.	false
+c9c67b4add7db4512ead4a8cd49ec14927650f80	Findings, such as @DISEASE$, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and @PHENOTYPICFEATURE$, are rarely associated with the syndrome.	false
+b6f368583d1bb68c21095f1d828178bb18f314f2	Additionally, the degree of @DISEASE$ was correlated with the grade of @PHENOTYPICFEATURE$ (p = .024).	false
+91c1b6628daf2a206d4f9cde9b0aef035f903ba7	Microglossia, @DISEASE$, @PHENOTYPICFEATURE$, situs inversus.	false
+015da8b50fd26e34a2238b4a169d2ee11e56673c	Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3086dff9812d2ee68cfd4cf2384513c33d6230f6	In 10%-20% of cases, there are additional features of a @DISEASE$ syndrome, such as retinal defects, liver fibrosis, @PHENOTYPICFEATURE$, and brain developmental disorders.	false
+0638cdd0800a539fffa1235892154fcb02e0383f	In around 15% of cases, there are additional features of a @DISEASE$ syndrome, including retinal defects, liver fibrosis, @PHENOTYPICFEATURE$, and brain developmental disorders.	false
+1948e7d15c94bdf1f631ff81befc60090be377cb	Peak incidence of @PHENOTYPICFEATURE$ for @DISEASE$ rats (547 seizures) was 1645 (95% CI = 1448,1830) and for MTLE subjects (774 seizures) was 1500 (95% CI = 1324,1636).	false
+3b15778662cb0d3a46bef965adca071a95065597	Peak incidence of seizures for @DISEASE$ rats (547 @PHENOTYPICFEATURE$) was 1645 (95% CI = 1448,1830) and for MTLE subjects (774 seizures) was 1500 (95% CI = 1324,1636).	false
+1149307711d8458289cd248677330a02f08a339b	Peak incidence of seizures for @DISEASE$ rats (547 seizures) was 1645 (95% CI = 1448,1830) and for MTLE subjects (774 @PHENOTYPICFEATURE$) was 1500 (95% CI = 1324,1636).	false
+04c57dfe19f07384c7aa92606676e3717377e78e	Using a data-driven, multivariate method, @DISEASE$, we describe patient phenotypes that are associated with @PHENOTYPICFEATURE$-freedom following resective surgery for TSC.	false
+29644c60dac8c3c4660cb20177ae92702063b473	We applied whole-exome sequencing (WES) and MND and @PHENOTYPICFEATURE$-related genes filtering strategies to discover the genetic factors in a Chinese @DISEASE$ family.	false
+b9ae43d26e686e69ec767bace310b5dfc7b29a2c	In @DISEASE$ there is progressive spastic paresis but in contrast to ALS there is no lower @PHENOTYPICFEATURE$.	false
+c00194729e7d56079601ef17cf48b7224bdb7087	Criteria for diagnosis of ABPE/@DISEASE$ were the occurrence of generalized minor @PHENOTYPICFEATURE$ as previously described for ABPE/PLS and the detection of focal sharp waves indistinguishable from those of rolandic epilepsy (RE) with generalization during slow sleep.	false
+00d2ef3237028e7ccb1b1e3f9bcd91b27779fffc	Criteria for diagnosis of ABPE/PLS were the occurrence of generalized minor @PHENOTYPICFEATURE$ as previously described for ABPE/@DISEASE$ and the detection of focal sharp waves indistinguishable from those of rolandic epilepsy (RE) with generalization during slow sleep.	false
+d5166b069328ba1357332c88418aff58c84acc2f	The aim of this study was to investigate if mutation in these genes is associated with upper @PHENOTYPICFEATURE$ in primary lateral sclerosis (@DISEASE$) or selected motor neurone disease (MND) cases.	false
+04a85760ebc625042710c08e8b1ade6f283faa83	The aim of this study was to investigate if mutation in these genes is associated with upper @PHENOTYPICFEATURE$ in @DISEASE$ (PLS) or selected motor neurone disease (MND) cases.	false
+a4ba4a7533ab2d1f3f4c7a8cafda0d0d837c7b02	A factor analysis comparison of the ITPA and @DISEASE$ with @PHENOTYPICFEATURE$ children.	false
+91e5c12eaaea1491ce7b79e63af66457572ee474	The mean fraction +/- SD of @PHENOTYPICFEATURE$ recorded during light was 63 +/- 17% in @DISEASE$ animals and 60 +/- 21% in humans.	false
+61f1acdf7980daf879d8d9803ddcaa3d50c149c3	Reversible posterior leukoencephalopathy syndrome (@DISEASE$) is characterized by headache, clouding of sensorium, visual disturbances and @PHENOTYPICFEATURE$.	false
+5cbcb9ba48f5294cff7f41140362d606190aeeca	Diagnoses of the participants included cerebral palsy, undifferentiated developmental @PHENOTYPICFEATURE$, head and neck cancer, amyotrophic lateral sclerosis and @DISEASE$.	false
+f22916676832f6f24d9ba890013abc7ce27c4b75	Adults with @DISEASE$ present with chronic musculoskeletal pain and stiffness, short stature, @PHENOTYPICFEATURE$, fractures, and pseudofractures due to osteomalacia, accelerated osteoarthritis, dental abscesses, and enthesopathy.	false
+ae56357ffaf52766dfd8b792ad75d63e4060ec1d	X-linked hypophosphataemia (@DISEASE$) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, @PHENOTYPICFEATURE$, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults.	false
+d27f95382c9f24174ca22225cacb302c0c0301f6	@DISEASE$ is a disease of generalized defect in collagen formation including multiple disorders of the joints and @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+c3d89c463eeeac9eb544f9ac4f15d31125a6cb15	In summary, patients with the @DISEASE$ are likely to have cardiac lesions similar to those classically associated with the Marfan syndrome; these patients deserve a careful investigation for @PHENOTYPICFEATURE$.	false
+27446e5780352c78b7510a6add18dd00eec09f88	Severe @PHENOTYPICFEATURE$ in sibs with @DISEASE$.	false
+bc1f7ccd7d274996929ec142cc3538ab5a9a5d5c	Part I reviews the relationship between pain and sleep disorders in the context of four diagnostic categories of chronic craniofacial @PHENOTYPICFEATURE$: 1) primary headaches: migraines, tension-type headache (TTH), trigeminal autonomic cephalalgias (TACs) and hypnic headache, 2) secondary headaches: sleep apnea headache, 3) temporomandibular joint disorders (TMD) and 4) painful cranial neuropathies: trigeminal neuralgia, post-herpetic trigeminal @DISEASE$ post-traumatic trigeminal neuropathy (PTTN) and burning mouth syndrome (BMS).	false
+4cdbe875908e70fd7a57c244ea2f582c60647fa1	We tested the hypothesis that a murine model of @DISEASE$, caused by reduced expression of ERCC1-XPF DNA repair endonuclease, develops @PHENOTYPICFEATURE$.	false
+1bfd0805a5865af7d900129afdee86348f3c3144	The father had a cleft palate, bilateral colobomas of the iris and retina, a @DISEASE$, @PHENOTYPICFEATURE$, and unilateral congenital hearing loss.	false
+f4d895bea25e175318d0f1458e8882eb1079487e	Less frequent findings include lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohydrosis, hypodontia, and cleft palate with or without @DISEASE$.	false
+02d224011c09398701c78e084ea75742ef07faf3	We report the case of a boy with @DISEASE$ who presented with mild microcytic @PHENOTYPICFEATURE$ and recurrent leg ulcers that had been present since childhood.	false
+6fc99f9102a12b888570641f2036003650d0f1bb	Band 3Tamba?: a de novo @PHENOTYPICFEATURE$ in the AE1 gene associated with @DISEASE$.	false
+74547d0bc02abbbe09545e89ec1bf1af57cc3271	We describe a brother and sister with mental retardation, @PHENOTYPICFEATURE$, delayed puberty, @DISEASE$, and an abnormal facial appearance.	false
+1288d262b51199243ded003e7ca156c9a1bbd128	Infants with @DISEASE$ can display additional manifestations within the spectrum of caudal dysplasia sequence, including @PHENOTYPICFEATURE$ and renal agenesis.	false
+6175de979cc0b430cdbc743e5797d89d671f3e1d	We have proposed a primary classification of skin disorders, regarding thyroid involvement, into two main groups: 1) dermopathies associated with thyroid abnormalities, mainly with autoimmune thyroid diseases, like melasma, vitiligo, Sjogren's syndrome, alopecia, idiopathic hirsutism, pre-menstrual acne, bullous diseases, connective tissue diseases, @PHENOTYPICFEATURE$ syndrome, atopy, leprosy and @DISEASE$; and 2) dermopathies depending on the nature of the thyroid disorder, in which the evolution and outcome of the skin disorder depend on the thyroidal treatment in most cases, such as trophism and skin blood flow, myxedema, alopecia, onychodystrophy, hypo- and hyperhidrosis, xanthomas, intraepidermal bullae, carotenodermia, pruritus, flushing, pyodermitis, palmoplantar keratoderma, ecchymosis, etc.	false
+f6940dd03264643468c8940ca363311c0d5cf48b	This case is unique in two aspects; first, the finding of @PHENOTYPICFEATURE$ via CT of the brain in patients with @DISEASE$ has rarely been reported in the literature.	false
+f416f55727fcdb4813e4d8f682324052ddd48b8b	Moreover, Tbx1-/- mice displayed a wide range of developmental anomalies encompassing almost all of the common @DISEASE$/VCFS features, including hypoplasia of the thymus and parathyroid glands, cardiac outflow tract abnormalities, abnormal facial structures, @PHENOTYPICFEATURE$ and cleft palate.	false
+d4f809d1fa04d6792ce282c949cd6378da7f9dad	The three cases with abnormal brain @DISEASE$ had long term neurological sequelae (@PHENOTYPICFEATURE$, personality change, altered affect).	false
+c9e6c676848da9b955eee7ab23bca4814e47dd0b	We report the case of a 60-year-old man who presented with sudden @PHENOTYPICFEATURE$, a history of postprandial abdominal pain, malabsorption, and skin lesions typical of systemic @DISEASE$.	false
+302946d73e85586515e5e7f416b2ff1bc48de41f	An unknown etiology differing from other cases of @DISEASE$ type 3 might have caused not only @PHENOTYPICFEATURE$ and hypoplasia of the cerebellum and brainstem, but also cerebral and visceral malformations.	false
+bebf388550a75448f582e9f2a3df9dfb1e8c9785	In addition, he made significant contributions to surgery of the pituitary gland for control of cancer, treatment of cerebral and spinal @PHENOTYPICFEATURE$, application of the intracarotid Amytal test for lateralization of speech and memory function, and characterization and treatment of epilepsy accompanied by chronic encephalitis, now referred to as @DISEASE$.	false
+31f8dd574db7b628a31fea71cfdcce4ee37e0301	@DISEASE$ (AK) is a rare but serious ocular infection that can result in permanent visual impairment or @PHENOTYPICFEATURE$.	false
+b3682de96029b3993e27a97ccdec1e88809808e7	Acanthamoeba species are free-living amoebae that constitute an etiological agent of @DISEASE$, an illness that may cause severe ocular inflammation and @PHENOTYPICFEATURE$ and has a very difficult treatment.	false
+f3f673b1f2cbd56f4cd183ce9be7f723bf9c9b58	@DISEASE$ (AK), a severe and painful eye infection, must be treated as soon as possible to prevent ulceration of the cornea, loss of visual acuity, and eventually @PHENOTYPICFEATURE$ or enucleation.	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	false
+e7e678da07741344436a44f9656482fbd680cb4b	@DISEASE$ @PHENOTYPICFEATURE$ may negatively impact the quality of life.	false
+aedf67046bc242c724c4fef17091e0052cdcd902	as an ipsilateral miosis, subtle ptosis, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+cc127654ed9282b3855e83d0553611831edf51e2	The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor @DISEASE$ dysmorphisms, @PHENOTYPICFEATURE$, and hypertrichosis.	false
+651f24089b71031fdf0e2e77742a8e4d23939f57	The ultrasound scanning confirmed the findings and furthermore, the 3-D examination revealed minor @DISEASE$ dysmorphisms, limb abnormalities, and @PHENOTYPICFEATURE$.	false
+df8bacacef5aef85ed2136e2462ec5d078c8b026	23 of these had hand @PHENOTYPICFEATURE$ and 1 @DISEASE$ eczema.	false
+0b0c8dd4774ae511b952c9491d1024e13449dab8	23 of these had hand eczema and 1 @DISEASE$ @PHENOTYPICFEATURE$.	false
+2c638e3a8d9a335bcad44188f179609eb7c0f191	Unilateral @DISEASE$ @PHENOTYPICFEATURE$.	false
+05775f1e6af11776b5ab5e01496cd6b9da7a4b9f	@PHENOTYPICFEATURE$ acuminata with @DISEASE$ sebaceous hyperplasia.	false
+94822b1d1e2b26e2e14c8469aaca014a74f7476b	Further, he had slight @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a30eec3cb8b80f15436f0f6ea5f2586cc2765e1a	Transthoracic endoscopic T-2, 3 sympathectomy for @DISEASE$ @PHENOTYPICFEATURE$.	false
+916a515187e8941489d6cd0d20d310f77376fcfd	Topical glycopyrrolate for patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+ab5b02435c8052fd7c13878897ead7c98c29609b	Classically, the clinical triad consists of ipsilateral blepharoptosis, pupillary miosis, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+ca91c38c6912ec86dfd1100bbc00b7473ba1aefd	Cell proliferation assays revealed that while IFN-alpha did not exert an antiproliferative effect on this cell line, it was capable of prolonging the survival of STAT1-competent C57BL/6 mice bearing 1 x 10(6) @DISEASE$ @PHENOTYPICFEATURE$ cells in the intraperitoneal position (n = 20, P < 0.05), as compared to PBS-treated controls.	false
+04585ae716fc8bd7c6fc960526d7bce870717861	Obesity is a serious risk factor for chronic disease, and commonly prescribed oral glucocorticoids (@DISEASE$) may be contributing to the prevalence of @PHENOTYPICFEATURE$.	false
+87e2ce988472d1b80facb1af2b63cf1a80374d0a	Patients aged 60 years or younger with high oral corticosteroid (@DISEASE$) exposure had greater odds of osteopenia, osteoporosis, glaucoma, dyspeptic disorders, chronic kidney disease, cardiovascular disease, cataracts, hypertension, and @PHENOTYPICFEATURE$ (P < .01)	false
+73703e6699c1649fd012924c054875f7b196ca75	In advanced cases of the panencephalopathic type of @DISEASE$, in which both @PHENOTYPICFEATURE$ and astrocytosis were marked, the increase of reactive microglia was small.	false
+f89b74299eb765c3febdd0859a24a974f6459ffa	A patient with progressive neurological deterioration characterized by @PHENOTYPICFEATURE$, myoclonus, Parkinson's syndrome, an abnormal electroencephalogram and fasciculations was considered for brain biopsy for suspected @DISEASE$.	false
+76bf9b7f03806251a4f21a60085c2c06de1be73d	An acute clinical course of @DISEASE$ may explain this latter histological finding which, in turn, probably provides an explanation for the absence of @PHENOTYPICFEATURE$.	false
+263ec7a406887e4dd44b2a457641b19f3d8819c4	@DISEASE$ was first suspected in this patient with no previous medical history, who developed acute and rapid @PHENOTYPICFEATURE$, L-dopa-non-responsive parkinsonism, and delusion.	false
+c890801191641ea1b53a3f99296778d70db34b54	For example @DISEASE$ is associated with aggregation of prion protein, Lewy body dementia and Parkinson disease with ?-synuclein and forms of frontotemporal dementia with tau, TDP 43 and host of other proteins, Alzheimer disease (AD), the most common cause of dementia, and its prodromal syndrome mild @PHENOTYPICFEATURE$ (MCI) are an increasing public health problem and a diagnostic challenge to may clinicians.	false
+419f42d52392461df697074f8fac713d9fc612ee	In the case of 77-year-old woman with @DISEASE$ lasting 1 year, there was extensive @PHENOTYPICFEATURE$ white matter in addition to severe loss of neurons and hypertrophic astrogliosis in cortex and striatum.	false
+00a1f2b17126dc2a3919899ec57bdd740bc1302a	As dementia progresses, several BPSDs become more severe, including 1) apathy and @PHENOTYPICFEATURE$ in AD, DLB, and VaD, 2) all of the BPSDs except euphoria in @DISEASE$) AMB, agitation, irritability, disinhibition, and euphoria in DLB, and 4) depression and anxiety in VaD.	false
+54268bafc99260266e3cb47e0418d1f0308c5cf1	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, developmental delay, and renal defects.	false
+8d29e71e1e518b8baaa5d9fb632104eb49348fb0	Examinations of 1427 subjects (2848 eyes) on the Western Bank of the Jordan and in the Ghaza sector have revealed a high incidence of ophthalmic diseases, particularly of conjunctivitis, cataracts (nuclear among other ones), @PHENOTYPICFEATURE$, @DISEASE$, diabetic retinopathies, congenital conditions.	false
+c3ccca914398a06ef65853ceb7325289ce4414ce	To determine the nature, extent, and severity of renal involvement in Laurence-Moon-Biedl syndrome (@PHENOTYPICFEATURE$, mental retardation, polydactyly, hypogonadism, and @DISEASE$), we evaluated 20 of 30 patients with the disorder identified from ophthalmologic records in Newfoundland.	false
+193b7622e6aae946bf3261ec484e42412c3dfe68	@DISEASE$ (EPPK) is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles associated with histologic findings of @PHENOTYPICFEATURE$ and epidermolysis.	false
+8b4d1983e8dcef42113a8dd4399d43571ddf83d6	Gene mutations in desmosomal components cause striate keratoderma, Naxos disease, @DISEASE$ and plakophilin deficiency, which first show skin fragility and blisters and later @PHENOTYPICFEATURE$.	false
+1abf204f4b47046d125a87a19a10fb80f28ef39a	@DISEASE$ (EPPK) is an autosomal dominant inherited skin disorder characterized by @PHENOTYPICFEATURE$ of the skin over the palms and soles.	false
+3606fedb41d7e90e9ec390bc262cf008620ad03c	@DISEASE$ (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse @PHENOTYPICFEATURE$ on the palms and soles.	false
+bc6b1796d35d4b007022f7ad64781a07f97c7fe5	Adverse effects and toxicities of the inhaled anesthetics include nephrotoxicity, hepatotoxicity, cardiac arrhythmias, neurotoxicity, postoperative @PHENOTYPICFEATURE$, respiratory depression and irritation, @DISEASE$, and postanesthesia agitation.	false
+8312034921f37c6459d6506af5cf63aa7a20c6f5	We also compared the incidence of adverse events (cardiac arrest, dental trauma, direct airway injury, dysrhythmias, epistaxis, esophageal intubation, hypotension, hypoxia, iatrogenic bleeding, laryngoscope failure, laryngospasm, lip laceration, main-stem bronchus intubation, @DISEASE$, medication error, pharyngeal laceration, pneumothorax, endotracheal tube cuff failure, and @PHENOTYPICFEATURE$).	false
+4bc21fdb04634c47583c94c62c4705b476221918	Most departments provide an explanation of dental damage, @DISEASE$, and nausea/@PHENOTYPICFEATURE$.	false
+91fafc30d91cc9b9a49cec4a284e426466314f4a	Multi-channel cochlear implantation was successfully performed in three cases with congenital inner @DISEASE$ accompanied @PHENOTYPICFEATURE$.	false
+98adb9fe9b63618cc7c70763c152fa0c4a16df27	[Multi-channel cochlear implantation in patients with congenital inner @DISEASE$ accompanied @PHENOTYPICFEATURE$].	false
+794b983542e7d79676f68a8aca9a2f11348556c4	To report the multi-channel cochlear implantation in three patients with congenital inner @DISEASE$ accompanied @PHENOTYPICFEATURE$, including CI surgery and postoperative outcomes of hearing and speech recovery.	false
+a7026bed59f83270399865b77574a7c9e653832b	Multi-channel cochlear implantation surgeries have been performed in three cases with congenital inner @DISEASE$ accompanied @PHENOTYPICFEATURE$ in our hospital from May 1995 to May 2002.	false
+5d1b17e9d259b934fe90d437954785ce7428f66f	CONCLUSION Multi-channel cochlear implantation could be performed in the cases with congenital inner @DISEASE$ accompanied @PHENOTYPICFEATURE$ through the transmastoid approach.	false
+9fdba47775fb0a75e2fe8d4c5754ae907a041443	The transmastoid approach was performed to the cases with congenital inner @DISEASE$ accompanied @PHENOTYPICFEATURE$.	false
+27a50f8e46a07e3b34b05e1430e053092141786a	Among the 184 patients with congenital hearing loss, HRCT showed that 26 cases (14.1%) were associated with external ear malformation, and 21 cases (11.4%) were associated with @PHENOTYPICFEATURE$, 31 cases (16.8%) associated with inner @DISEASE$.	false
+4114baca67fc0b89d8c613d9eb9dacdc97c6c417	De novo pericentric inversion of chromosome 5 in a girl with @PHENOTYPICFEATURE$ and unilateral @DISEASE$.	false
+fe034c60ff67accd35a342fe19d0fcecb9728f8f	With the positive outcomes after cochlear implantation and the improvements in technology and surgical techniques, candidacy for cochlear implantation in children has been expanding to include hearing-impaired children with significant residual hearing, severe inner @DISEASE$, multiple handicaps such as @PHENOTYPICFEATURE$ or visual impairment, and auditory neuropathy.	false
+cba0f8c41425ac198b2c5e47b7204bf3e204d8ab	Next, we determined the @PHENOTYPICFEATURE$ chromosomal composition, and validated the presence of a @DISEASE$ in all examined cell types from this patient.	false
+ee797a8a7005012fb09afbfacb8fa91af0406747	: Pregabalin (PGB) is an L-type, voltage-dependent, calcium-channel blocker, useful for the treatment of @DISEASE$ and some forms of @PHENOTYPICFEATURE$.	false
+a376a83c13518650a1042b81abf6faeac05668d3	Metoclopramide can precipitate extrapyramidal symptoms (@DISEASE$)/drug-induced @PHENOTYPICFEATURE$ (DIMD).	false
+931dc7e7122b8ae37cbccf77231feb6c218b234f	Unfortunately, these drugs may cause a variety of distressing acute and delayed @PHENOTYPICFEATURE$, collectively known as 'extrapyramidal symptoms' (@DISEASE$).	false
+b71b0bd3169e8794b2ed7ad5ab2d16ba6ec3031a	However, there is general agreement that pre-existing extrapyramidal signs (@DISEASE$) increase the vulnerability of the patient to developing significant drug-induced @PHENOTYPICFEATURE$.	false
+51780a03df6d485cc75ef5002f9b1d3d23320701	This study aims to further evaluate the impact of family history of primary @PHENOTYPICFEATURE$ (FHpMD) and a candidate genetic variant on risk of antipsychotic-induced extrapyramidal symptoms (@DISEASE$).	false
+5f67576fe62584ffb5cdb859863b88634dc992ec	Neuroleptic-induced @PHENOTYPICFEATURE$, or extrapyramidal side effects (@DISEASE$), can be classified into acute and tardive syndromes.	false
+b8bd28477bd13bdcd107b105df65103cf1c1c4d0	We recently reviewed our cohort with @DISEASE$ in FTD and identified 22 patients with the @PHENOTYPICFEATURE$ as a first syndrome and another larger group of 48 patients who developed EPS after an initial onset with a cognitive disorder: aphasic, behavioral or both.	false
+997ad69b10d702a629e3928360495dbf61f62ef9	We recently reviewed our cohort with EPS in FTD and identified 22 patients with the @PHENOTYPICFEATURE$ as a first syndrome and another larger group of 48 patients who developed @DISEASE$ after an initial onset with a cognitive disorder: aphasic, behavioral or both.	false
+22072583a5881faf7aa11fb0f22e91adcec5e542	This article reviews the mechanisms of neuroleptic-induced @DISEASE$ and tardive dyskinesia and discusses the relationship between these @PHENOTYPICFEATURE$ and atypical antipsychotic agents.	false
+478731e73c70553996cb1d286cc36b87350402a4	Anticholinergic treatment of neuroleptic extrapyramidal @PHENOTYPICFEATURE$ (@DISEASE$) has been associated with induction of tardive dyskinesia.	false
+75d68087b67d45254a62807033fc0256a8f08391	Data from clinical trials reviewed in this article fulfill predictions based on preclinical findings that atypical antipsychotic drugs are associated with a reduced potential for inducing extrapyramidal symptoms (@DISEASE$) and other @PHENOTYPICFEATURE$.	false
+14aa817b2c0c55056edc80a2ee2bdc78d70201b2	It is well known that multiple classes of drugs used to treat psychiatric diseases produce extrapyramidal side (@DISEASE$) effects and consequent @PHENOTYPICFEATURE$ in humans.	false
+e3076f6d4f9a3984a337172c45c8d3082af14756	Absence of @PHENOTYPICFEATURE$ in mice homozygous for the Polr3a G672E @DISEASE$ mutation.	false
+e91936f2ac873644e9a83585182e87b5a2c45139	We describe the rare condition known as Alexander's disease or Alexander's @DISEASE$, which is essentially a childhood @PHENOTYPICFEATURE$.	false
+ff32f71beff6483a87bdc9277941d7fa55f0aaf2	variants in brothers with different neurological disorders - @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7c927fa305b712b0bcfb7a16598d51ca6ec9cbb8	In the current study, we described a patient with psychomotor and @PHENOTYPICFEATURE$, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, @DISEASE$, and congenital deafness.	false
+8a47becdc14dbfa53201760ec03bb3c6efcaf5ba	Autosomal dominant childhood onset slowly progressive @DISEASE$--a Japanese family with spastic paraparesis, ataxia, mental deterioration, and @PHENOTYPICFEATURE$.	false
+5471b58e857ce6aaf522d67d7d50efca8c07e60d	@DISEASE$ is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, @PHENOTYPICFEATURE$, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia.	false
+74ce2eb6b70bb9235e1359a6eebc509ee91bd6df	@DISEASE$ is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, @PHENOTYPICFEATURE$, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+3781310b9baa68f67d383f4f0180737dcc6fab86	@DISEASE$ is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system alterations, facial abnormalities, ichthyosis, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+70d897ddf2b9a2df6b7c6dcdd4bb722cf73ee14d	@DISEASE$ is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked @PHENOTYPICFEATURE$ with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations.	false
+98675b8d2de97afa4a8be930570f69d36112e90c	@DISEASE$ is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including microcephaly, marked intrauterine growth restriction, limb deformities, central nervous system malformations and @PHENOTYPICFEATURE$ features, consisting of severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, malformed ears, and gaping mouth.	false
+edc6ae8c49fd1be5b6faae833b64074949e77306	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; @DISEASE$; Lenz microphthalmia syndrome; and Smith-Lemli-Opitz syndrome.	false
+c0ba9448594b68b2ad9dff8b432f0d8fa88b173e	@DISEASE$ (NLS) is a severe disorder with intrauterine growth retardation, @PHENOTYPICFEATURE$, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia).	false
+81af6ea2b05fc60366a78d69f905cb154bc6d714	@DISEASE$ is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, @PHENOTYPICFEATURE$, polyhydramnios, and short umbilical cord.	false
+f6a1d2897cb75bb8dbb0065d816a9f82674380b2	@DISEASE$ disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early @PHENOTYPICFEATURE$, caused by mutations in the N-myc downstream regulated gene 1 (NDRG1).	false
+3eedc217a905bb14f94950e381d30f6478a13807	@DISEASE$ associated with @PHENOTYPICFEATURE$, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?	false
+acb1d4787600b0ff147d6f9ad83149b03a8a694f	We showed that duplication at 4q21.2q21.3 is associated with moderate ID, cognitive deficits, developmental delay, language impairment, memory and attention problems, @PHENOTYPICFEATURE$, congenital heart defect and @DISEASE$.	false
+f08eba8d9618eebb3eb67feed6a176cea07f636a	Osteogenesis imperfecta (OI) is a heritable disorder with bone fragility that is often associated with @PHENOTYPICFEATURE$, tooth abnormalities (@DISEASE$), and blue sclera.	false
+59e8fa6102d6325d85304a80dffb93c5dd8cbbd5	Mandibuloacral dysplasia (@DISEASE$) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive @PHENOTYPICFEATURE$ of the mandible and clavicles, cutaneous atrophy, joint contractures, and diabetes mellitus.	false
+6281f9695a49efe1126377a6ad3460a35bc29bb6	Sixty individuals, aged 60?years and older, were distributed in three different groups: mild Alzheimer's disease (@DISEASE$), amnestic mild @PHENOTYPICFEATURE$, and healthy controls.	false
+b043f3f3292f7645164a6c7add77bdb05777020d	To evaluate the total number of synapses in the stratum radiatum (str rad) of the human hippocampal CA1 subfield in individuals with mild Alzheimer disease (@DISEASE$), mild @PHENOTYPICFEATURE$ (MCI), or no cognitive impairment (NCI) and determine if synapse loss is an early event in the progression of the disease.	false
+066fe2943ab73dc63aa83bf94aa0f01bd5631ce5	The differential diagnosis includes Meckel syndrome, short rib @PHENOTYPICFEATURE$ syndromes, and @DISEASE$. The molecular basis for this syndrome remains unknown.	false
+a003e370e649bf05d82da40d0d0d1142d6275e2c	This phase I/II randomized clinical trial examined the feasibility of using a modified Atkins diet (@DISEASE$) to induce ketogenesis in persons with mild @PHENOTYPICFEATURE$ (MCI) or early AD, and the effect of this diet on memory and other clinical outcomes.	false
+9f453e956356338aa2bae8b4dd10012b6c9d7d5b	We evaluated frontal cortex histone deacetylase (HDAC) and sirtuin (SIRT) levels in tissue obtained from subjects with a premortem diagnosis of no-cognitive impairment (NCI), mild @PHENOTYPICFEATURE$ (MCI), mild to moderate AD (@DISEASE$), and severe AD (sAD) using quantitative western blotting.	false
+1d19cb6678a0206ef7decb2f49783277f38c61b9	Most AA favoring omphalocele had parallel frequencies with gastroschisis, whether by system/region-for example, cardiac AA (10% of cases), contractures (4.7%), limb (3.7%), CNS (3.2%) for @DISEASE$ versus cardiac (35%), contractures (14%), digestive-excretory-trunk-axial (all ?11%), CNS (9.9%) for omphalocele-or for particular minor/major AA-for example, micrognathia (0.72% versus 3.3%), spina bifida (0.59% versus 3.9%), @PHENOTYPICFEATURE$ (0.73% versus 6.4%), two-vessel cord (0.22% versus 5.6%).	false
+d911d593c25f05dd8be4c13b2292dedec8fee6ea	The number of patients that could benefit from bioenergetic modulation therapy (BIOMET) is therefore very important and includes individuals with pathologies as diverse as mitochondrial diseases, acute coronary syndrome, chronic kidney disease, @PHENOTYPICFEATURE$ or @DISEASE$ cancer.	false
+7d611905b7a87e3902a0763bcb7acf39b9b7461b	The most common possibly GMCI-related adverse events included Common Terminology Criteria for Adverse @DISEASE$ grade 1-2 fever, fatigue, and nausea/@PHENOTYPICFEATURE$.	false
+a6ec74ee7b5dcdabf8796faa193976a405cacd8c	MPS IIIA is an inherited neurodegenerative lysosomal storage disorder characterized by @PHENOTYPICFEATURE$, sleep-wake cycle disturbance, speech difficulties, @DISEASE$ mental regression and early death.	false
+35e9e12f918a887130c1f6cc9633298eba60aa92	Postoperative abdominal wall hernia was reported in 7 cases with omphalocoele and in 6 with gastroschisis; postoperative intestinal stoma occurred in 1 child with omphalocoele associated with @PHENOTYPICFEATURE$, and in 1 with gastroschisis and postoperative intestinal obstruction in 4 cases with omphalocoele and in 1 with @DISEASE$.	false
+1e7829555b024e492b9d002d2e3ce0b03ca1ed1b	Postoperative abdominal wall hernia was reported in 7 cases with omphalocoele and in 6 with gastroschisis; postoperative intestinal stoma occurred in 1 child with omphalocoele associated with @PHENOTYPICFEATURE$, and in 1 with @DISEASE$ and postoperative intestinal obstruction in 4 cases with omphalocoele and in 1 with gastroschisis.	false
+31959464a5ee73f88db5e7a643db62d6ee3cf570	Parkinson's Disease (PD) is classified as a motor disorder, but most patients develop @PHENOTYPICFEATURE$, and @DISEASE$ dementia (PDD).	false
+23a3c9d510b31abb120e13ed6017e497075ff0b4	Mutations inactivating the cilia-localized Pkd1 protein result in autosomal dominant polycystic kidney disease (ADPKD), a serious inherited syndrome affecting ? 1 in 500 people, in which accumulation of @PHENOTYPICFEATURE$ @DISEASE$ destroys kidney function.	false
+563b207825fe73b700fe79b6d94242c03ef3ba7c	Endoscopy is currently not standardly recommended to evaluate diarrhea, @PHENOTYPICFEATURE$, or abdominal pain associated with @DISEASE$ due to potential risks, but may be considered for endoscopic therapy for active, life-threatening, GI hemorrhage.	false
+17200a06e946654dbf67cefe06262fc9b1280596	Instability in carotid vulnerable plaque can generate cerebral micro-emboli, which may be related to both stroke and @DISEASE$ @PHENOTYPICFEATURE$.	false
+bf2afdf5a9c1407bbc8f7af96f1a98ef7a9db921	Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder resulting in large @PHENOTYPICFEATURE$ and @DISEASE$ kidney failure.	false
+32197e668ba2c49111ad9443b89c8d6dc6715e9c	This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with @PHENOTYPICFEATURE$ (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, @DISEASE$, and sirenomelia), as well as ADPK, and ARPK.	false
+144be764be891eb57287f98cf06819a8c97d4a62	The 20 patients comprised 13 cases of idiopathic ERM, six cases in which ERM was associated with @PHENOTYPICFEATURE$ and one case of @DISEASE$ (RPE).	false
+5c13e4c42f1956c0af4370bfaaabff60a86086db	To document @PHENOTYPICFEATURE$ secondary to pulmonary disease in @DISEASE$.	false
+56723d72abeb98833919bcb200fcab8b23216a5e	Several other PID such as common variable immunodeficiency (@DISEASE$), Good syndrome and hyper-IgM syndrome are associated with a wide variety of @PHENOTYPICFEATURE$ manifestations, mainly autoimmune cytopenias.	false
+9c793f21d90c8347900c1cb68802c2d48e2ea3af	Several other PID such as @DISEASE$ (CVID), Good syndrome and hyper-IgM syndrome are associated with a wide variety of @PHENOTYPICFEATURE$ manifestations, mainly autoimmune cytopenias.	false
+7ab5a1e2e537c50b03946125eec3a5147222782f	To determine the HRQOL of patients with common variable immunodeficiency (CVID) requiring IVIG therapy, to compare these patients with patients with diabetes mellitus (DM) and @PHENOTYPICFEATURE$ (CHF), to determine the factors that affect HRQOL, and to develop normative data on the HRQOL of these @DISEASE$ patients, which can be used to follow the effects of future therapies.	false
+3cfdb10fb3259ab703f6d8c4a2641a199d11b0f5	To determine the HRQOL of patients with @DISEASE$ (CVID) requiring IVIG therapy, to compare these patients with patients with diabetes mellitus (DM) and @PHENOTYPICFEATURE$ (CHF), to determine the factors that affect HRQOL, and to develop normative data on the HRQOL of these CVID patients, which can be used to follow the effects of future therapies.	false
+462d32e60aebb6871bc10d97ceb19888743b1113	In addition identification of hypomorphic mutations in RAG1 and RAG2 has led to an expansion of the spectrum of disease to include Omenn syndrome, early onset @PHENOTYPICFEATURE$, granuloma, chronic cytomegalovirus- or EBV-infection with expansion of gamma/delta T-cells, idiophatic CD4 lymphopenia and a phenotype resembling @DISEASE$.	false
+8506a878299e287a5a4f4213cef55413acc687cf	RNF216) have recently been identified in patients suffering from @DISEASE$ (GHS), characterized by cognitive decline, dementia, and @PHENOTYPICFEATURE$.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+66acb06219f1e26facbf801226320fc40c8edc1d	@PHENOTYPICFEATURE$ associated with neuroendocrine @DISEASE$ and GAD antibodies.	false
+59ebf55a3ea12d51b16374035265326470ed0c40	Previous reports have shown that neurological symptoms, similar to opsoclonus or @PHENOTYPICFEATURE$, deteriorated in cases of @DISEASE$ that could not be controlled.	false
+f19a1164c8ca356d234799fdc6e0994d552133d7	A 54-year-old man suffered from multiple neurologic disturbances (polyneuropathy, @PHENOTYPICFEATURE$, dysautonomia) associated with myasthenia gravis and @DISEASE$.	false
+08810fc0d13c80ccf8959245c7e4dbfc78c1d7ed	A 47-year-old man with a history of Hodgkin lymphoma and @DISEASE$ presented with headache, nausea, and @PHENOTYPICFEATURE$.	false
+329ef3c94fcfd74156d4abfca47f271ba4030a95	Paraneoplastic @PHENOTYPICFEATURE$ (PCA) is most frequently observed in gynaecological cancers, small cell lung cancer, breast cancer, Hodgkin's lymphoma, cancer testis or @DISEASE$.	false
+9e619e51d8b1fec256758bf77db4684979220ed5	He had been diagnosed with @DISEASE$ identified during genetic analysis for @PHENOTYPICFEATURE$ at birth.	false
+3ef5ed0501a3fab49f7c84b9cd423f1a1b1155a0	The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover @DISEASE$ associated with a de novo @PHENOTYPICFEATURE$ in exon 14 of the SLC4A1 gene, which would have been impossible to diagnose clinically due to the advanced nature of the kidney disease when it was discovered.	false
+1ca6c88bda8d1999060433bd4ff01789d414d489	The primary diagnoses included alcoholic liver disease, various forms of cirrhosis, @DISEASE$, @PHENOTYPICFEATURE$ and sclerosing cholangitis.	false
+6f8bed707a558fe9e2b7929057a75f163bc54b05	@DISEASE$ of the thorax with chest wall involvement presenting as a dumbbell @PHENOTYPICFEATURE$.	false
+0e8a6a40020bffcdaa32a3522296dd86fa5c8ec4	Primary muscular @DISEASE$ mimicking soft tissue @PHENOTYPICFEATURE$: a report of five cases.	false
+70cf11334a97b20a3d69d7013d7ca64a04ad00ab	@DISEASE$ is a parasitic disease with @PHENOTYPICFEATURE$-like development of a cystic mass.	false
+83bef72d6bfeedf21ad24e5174758e8eb757df8c	A 39-year-old Kurdish male patient presented with the previous diagnosis of @DISEASE$ and disseminated cysts in the liver, lung, and left kidney, leading to @PHENOTYPICFEATURE$ and the need for hemodialysis.	false
+b6c8f18577b5d2aaa52cfe48dd75603c7170d617	Bronchobiliary fistula is a rare pathology mainly caused by hepatic @PHENOTYPICFEATURE$, bile duct obstruction, or hepatic @DISEASE$.	false
+61aa0bc126d92641bb266d60540405310bddd72c	Serologic tests are used in @DISEASE$ and serum @PHENOTYPICFEATURE$ markers (CEA, CA 19-9) are measured to aid in differential diagnosis of suspected neoplastic cysts.	false
+80e2ec588734e8a755e3b1ee505314629d97e40c	We hypothesized that solid @PHENOTYPICFEATURE$ rarely occur in patients with @DISEASE$.	false
+d9a6b26bb6621b88d707af360ba7186607099ee3	Musculoskeletal @DISEASE$, presenting with a variety of patterns, may resemble a @PHENOTYPICFEATURE$ or an inflammatory process.	false
+e3cfbf98246c6a6042b21ef2ec39c72621f19f03	Primary muscular @DISEASE$ is rare and usually presents as an asymptomatic, slowly growing mass mimicking a soft tissue @PHENOTYPICFEATURE$.	false
+e249f723c5df1b2821fe82807c312b5c26f505f1	Leg muscle imaging investigations were performed in a cohort of patients with LMNA gene alterations who were suffering from @DISEASE$, limb-girdle muscular dystrophy type 1B, isolated cardiac disorders or a phenotype of cardiac disorders, and lipodystrophy, including one individual with @PHENOTYPICFEATURE$.	false
+cadd3173f98f17e864463604d7fb2fbfaf9cbdef	We studied a family with @DISEASE$: the mother, a 36-year-old woman with a height of 149 cm, had mild bilateral @PHENOTYPICFEATURE$.	false
+31b639ccf21e305a2c465db49407786b3f3f240a	To assess the clinical evidence of Chinese herbal medicine (@DISEASE$) for @PHENOTYPICFEATURE$-related hypertension.	false
+a81029cc964fc5c858382d28c1a4c3d97d97f746	@DISEASE$, @PHENOTYPICFEATURE$, and congenital deafness.	false
+a720199d4d6a4a4c6ba16004bbf66509eca0abee	@DISEASE$, obesity, and @PHENOTYPICFEATURE$.	false
+3d100bf6451df85ef6a854b7a5bf47431ac604b7	The X-chromosomal breakpoint was located within a region where both the @DISEASE$ locus and a @PHENOTYPICFEATURE$ locus (DFN3/POU3F4) have been mapped.	false
+7f63d9c5cfc406d3d955ca65ed7206ac9b9de0d2	Almost all of the deletions spanning part of Xq21 are associated with @DISEASE$ and mental retardation, with @PHENOTYPICFEATURE$ being another common feature.	false
+c15e3e3e89ffdc582e3d09892eec2eccc7a4ae34	Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked @PHENOTYPICFEATURE$ type 3 (DFN3), mental retardation (MRX), and @DISEASE$ (CHM).	false
+7c2a336d500402f160b7b8bc91e4c9880a767123	Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked @PHENOTYPICFEATURE$ type 3 (DFN3), mental retardation (MRX), and choroideremia (@DISEASE$).	false
+79387cf391d303443c827c99a7f5db8f27d34074	@DISEASE$ and @PHENOTYPICFEATURE$ with stapes fixation: a contiguous gene deletion syndrome in Xq21.	false
+6c38634a4b6149b8d09015bab82954f3473a0c57	Our study confirms the causative effect between the Xq21 deletion in males and @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+2852fada595083462a2fb8bb486249eaa56d1f59	Syndromic @DISEASE$: sublocalization of phenotypes associated with Martin-Probst @PHENOTYPICFEATURE$ mental retardation syndrome.	false
+74dd63532673768f3fc59aeeca7cb571c87f2120	@DISEASE$, @PHENOTYPICFEATURE$ and mental retardation in a family with an X chromosomal deletion.	false
+027adbe257ca8709da8b1f5c3230783f8f225c0c	We have recently identified two families in which @DISEASE$ is inherited with mental retardation and @PHENOTYPICFEATURE$.	false
+cc149a66c648b8c7672c76a8188885c9386bf762	[@DISEASE$ (Castelman's @PHENOTYPICFEATURE$) in the mediastinum.	false
+659369c588fd886ece8223696b87f9731d07b1dc	@DISEASE$ (GLNH) is a rare @PHENOTYPICFEATURE$.	false
+26fa8d636ccbf0334bd24bd9071001b4850ea6d7	Retroperitoneal @DISEASE$ mimicking soft tissue @PHENOTYPICFEATURE$.	false
+de725621e8c63fe373c335584f2fefc6d38e520a	@DISEASE$: a rare presacral @PHENOTYPICFEATURE$.	false
+10274dc1f150f51a94eb8a7b13f0b8666aeeb445	Pelvic @DISEASE$ mimicking an adnexal @PHENOTYPICFEATURE$.	false
+9312635654eac27e719a59a5624b5b9dd7340bf7	Cytoplasmic immunoglobulins in @DISEASE$ (Castleman's @PHENOTYPICFEATURE$).	false
+d4f0e5f74ab3a47a0ba949d8e4a6a54ff66427f7	@DISEASE$ with retroperitoneal location: a malignant-appearing benign @PHENOTYPICFEATURE$.	false
+a15574d34d50124c7e6f89eb1497893ee0ce67ed	The @PHENOTYPICFEATURE$ was accompanied by @DISEASE$.	false
+bcc1ef66acf63d6a1c98a99de582f27524fd114c	@DISEASE$ reproperitoneal @PHENOTYPICFEATURE$.	false
+5878a35040f6001eb8bd700137627b01e98df2e9	@DISEASE$: retroperitoneal @PHENOTYPICFEATURE$, lichen planus and erythema multiforme.	false
+2fda7a59c05b91794dff6e995007c506bbe230ef	She had a normal neurologic examination, including no clinical evidence of @DISEASE$ or @PHENOTYPICFEATURE$.	false
+b42259d3192943a0bc99dbb57af448e2e7f8c67e	They may present with diplopia, @PHENOTYPICFEATURE$, and/or @DISEASE$.	false
+c926f409788256882337da919f783e8c13de7d8c	A 5-month-old male neutered domestic shorthair cat was evaluated for spinal @PHENOTYPICFEATURE$, ataxia, and @DISEASE$.	false
+a3a323f3b0b00f794d5e91addae2d3552ce35e89	@DISEASE$ greater than 1.3 mm is unlikely to be physiologic in a child; therefore, he or she should be carefully evaluated for other localizing signs, such as @PHENOTYPICFEATURE$, anhidrosis, and neck mass.	false
+bf7ccbefc76b834fc9f69f890dc6d0c08d2e5451	Right upper lid @PHENOTYPICFEATURE$, right miosis and @DISEASE$ were recognized on the first postoperative day.	false
+30d21667fe0b37570534276722bdcbf322c0dd01	Other typical anomalies, i.e. hypoplastic limbs with muscular atrophy and @PHENOTYPICFEATURE$, intrauterine atrophy, dysphagia and @DISEASE$ were also found.	false
+f38aec7f68ea49df07117817a278e3e180213b03	Based on the clinical presentation of @DISEASE$ and one-sided @PHENOTYPICFEATURE$,	false
+e65cf0c38051739d939a68f3d5fff43863b61301	Optimal ICL sizing is important as too high vault/clearance is associated with problems such as angle closure glaucoma, pupil dilatation and @DISEASE$ and too low vault/clearance to increased risk of @PHENOTYPICFEATURE$ formation.	false
+09f94dd1ffb7629448211b2b0375382d8f7f010d	@PHENOTYPICFEATURE$ and @DISEASE$ in a child may be subtle indications of occult pathology, and making the observation acutely in the emergency department (ED) is important in guiding patient management and treatment.	false
+4cfd4dc71ea26a2d3baebda4543972e4f8498169	Initial manifestation was an incomplete paresis in all 5 cases; 2 patients presented initially with exotropia, 2 with @PHENOTYPICFEATURE$, and 3 with @DISEASE$.	false
+bb29571f7c40df5a55b5f264ec0a13deaf9443f5	The causes of blindness were @PHENOTYPICFEATURE$, congenital eye anomaly, cataract, retinopathy of prematurity, and @DISEASE$.	false
+ffb89dfb80db393d3218528cf75f38da61bbbcd1	expression, reduced phosphorylation of @DISEASE$ protein (RB), cell cycle G1 arrest and cell @PHENOTYPICFEATURE$.	false
+49f41543ce33fa61405a7f0b3ea6ef8fb41c023d	Orbital @PHENOTYPICFEATURE$ in patients with @DISEASE$ after radiotherapy is influenced mainly by the age at which irradiation is given and is defined at 6 months.	false
+509d019f3a85e0d81cdc3240c8b2cae6c1bcf8f5	@DISEASE$, pinealoma, and mild @PHENOTYPICFEATURE$ in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14.	false
+e4c6ad6f36511cfde0e26f975007edd45c3f3b54	Interestingly, @DISEASE$ is not generally associated with @PHENOTYPICFEATURE$ syndromes, and its occurrence in this patient suggests that M-CMTC is also a tumour-prone syndrome.	false
+c9d48d644b046d17ed7372fde1d38c12d1763b2e	Orbital @PHENOTYPICFEATURE$, after enucleation and/or external beam radiation for @DISEASE$ (RB), is a serious late effect.	false
+51adc9a7a596762827da07b3c41e6389d4e4a71f	Orbital @PHENOTYPICFEATURE$ in @DISEASE$ survivors: work in progress.	false
+8e17a340acdb5729e9cfb2caad0b1fdb820b9f9f	Phenotype of the fetus after delivery revealed some anomalies, including hyponasal bridge, @PHENOTYPICFEATURE$, ambiguous genitalia with huge clitoris, low-set ear, neck edema and webbing.Deletion of the long arm of chromosome 13 is associated with a wide spectrum of abnormalities, including @DISEASE$, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities.	false
+229c61ec32331bb73a3e338569477db8ee2ceb2f	Phenotype of the fetus after delivery revealed some anomalies, including hyponasal bridge, hypertelorism, ambiguous genitalia with huge clitoris, low-set ear, neck edema and webbing.Deletion of the long arm of chromosome 13 is associated with a wide spectrum of abnormalities, including @DISEASE$, mental and @PHENOTYPICFEATURE$, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities.	false
+bdfcccaa164f68978d998a71012ce3dd0ea6e0c2	Phenotype of the fetus after delivery revealed some anomalies, including hyponasal bridge, hypertelorism, ambiguous genitalia with huge clitoris, low-set ear, neck edema and webbing.Deletion of the long arm of chromosome 13 is associated with a wide spectrum of abnormalities, including @DISEASE$, mental and growth retardation, brain malformations, @PHENOTYPICFEATURE$, distal limb deformities, and digestive, urogenital, and other abnormalities.	false
+533c484655b32d0711f2e14939f3bb196292158f	Clinical manifestations include @DISEASE$, brain anomalies, mental and @PHENOTYPICFEATURE$, as well as renal, cardiac, gastrointestinal, facial, lip and digital defects.	false
+c6b7b7f184cb639c321578b92d7ffcc875b1dc47	The late side effects of external beam irradiation in patients with @DISEASE$ such as orbital bony @PHENOTYPICFEATURE$, are a serious problem in adolescence.	false
+5c63c7db5a022f8961b10fe81d1ac59fba49ccad	Cornelia de Lange syndrome (CdLS) and @DISEASE$ are two distinct developmental pathologies sharing common features such as intellectual disability, psychomotor delay, and some craniofacial and @PHENOTYPICFEATURE$.	false
+dbcb73d14fb9050fea2127f512add996892c524c	In patients with intractable spine/@PHENOTYPICFEATURE$, @DISEASE$ was associated with increased odds of reducing pain medication consumption.	false
+8ac991950fde1aa760a4d17c704ad64e280393eb	Indications for @DISEASE$ included failed back syndrome (114 patients), peripheral vascular disease (39 patients), @PHENOTYPICFEATURE$ (30 patients), multiple sclerosis (13 patients), reflex sympathetic dystrophy (13 patients), and other etiologies of chronic intractable pain (26 patients).	false
+6f8e186cfa846bb4b192d0a939f9b3f52ba15107	Spinal cord stimulation (@DISEASE$) is a common therapeutic technique for treating medically refractory neuropathic back and other @PHENOTYPICFEATURE$ syndromes.	false
+7246f1aa358bfa7d3cfcd6ead7a1df23d242b452	The criterion validity of the SCS was supported by the finding that in both genders, the @DISEASE$ scores were significantly (p < 0.05) and inversely associated with psychological distress and @PHENOTYPICFEATURE$ in crude and in multivariable analyses that adjusted for demographics, organization-based self-esteem, work engagement, effort-reward ratio, workplace bullying, and procedural and interactional justice.	false
+33753f345e1dbb58e3246161db26ccab5819d5c1	Spinal Cord Stimulation (@DISEASE$) has become an accepted therapeutic modality for the treatment of intractable pain syndromes, primarily used today in the settings of failed back surgery syndrome, neuropathic back and @PHENOTYPICFEATURE$.	false
+fcce92d7883da27aeca645bd4695e86be4e20fdc	The results suggest that @DISEASE$ may provide a suppressive action on dorsal horn neuronal hyperexcitability associated with signs of @PHENOTYPICFEATURE$.	false
+efe7f4e8ac29c3e7847ba20fb1fdba663e971da2	@DISEASE$ (AHO), a disorder characterized by @PHENOTYPICFEATURE$ and obesity, is associated with heterozygous inactivating mutations in the gene for Gsalpha.	false
+233fceea6dfc7eb5832a0ea993f918408f3bb43a	Pseudopseudohypoparathyroidism is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and @PHENOTYPICFEATURE$ (referred to as @DISEASE$) that include short stature, short digits, and heterotopic calcifications.	false
+8a141804befee7499bd23feb49a4bccc5ae13369	@DISEASE$ (AHO) is a rare inherited disease characterized by @PHENOTYPICFEATURE$, short stature, and, in some cases, resistance to parathyroid hormone, resulting in pseudohypoparathyroidism (PHP).	false
+0092b3456ba0e3b68a3dced750bd920d374728ad	Here, we report a case of polyglandular autoimmune syndrome III with type 1 diabetes mellitus, autoimmune thyroiditis, and primary @PHENOTYPICFEATURE$, accompanied by clinical features similar to @DISEASE$.	false
+fd2072143c9804119fde6ddccdd499e813fe446a	The mutated subunit impairs the protein kinase A response to stimulation by cAMP; this explains our patients' hormone resistance and the similarities of their @PHENOTYPICFEATURE$ with those observed in patients with @DISEASE$.	false
+40d0fb67643313aa064c5e9fbe1f68c455f2b2e8	@DISEASE$ is clinically characterized by xanthomas and atherosclerosis, arthritis, @PHENOTYPICFEATURE$, hemolysis and macrothrombocytopenia even in early childhood.	false
+ea7e1a74ce2e5a4cb4240aeb024b0b51ab88d6ce	As these symptoms are similar to those seen in @DISEASE$, adrenal and pituitary insufficiency should be taken into account to achieve the correct diagnosis and treatment in patients with @PHENOTYPICFEATURE$ and muscle stiffness.	false
+1b084309b159d66549901d18afd5e62594817f31	They include anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, which may cause dyskinesias, chorea, ballismus or dystonia (NMDAR antibodies), the spectrum of @DISEASE$/muscle rigidity (glutamic acid decarboxylase, amphiphysin, (GABAA)-receptor-associated protein, or glycine receptor antibodies), neuromyotonia (Caspr2 antibodies), and opsoclonus--@PHENOTYPICFEATURE$--ataxia (unknown antigens).	false
+1d9a80472f093e90b3f03dd16def82bde91fd75d	The risk for an underlying @PHENOTYPICFEATURE$ was higher if the presentation was a classic PNS, if it was different from @DISEASE$ or cerebellar ataxia (odds ratio, 10.5; 95% CI, 3.2-34.5),	false
+7704f63cfa026cb952125108551dae429e9237b1	Spinal-generated movement disorders (SGMDs) include spinal segmental @PHENOTYPICFEATURE$, propriospinal myoclonus, orthostatic tremor, secondary paroxysmal dyskinesias, @DISEASE$ and its variants, movements in brain death, and painful legs-moving toes syndrome.	false
+cf9eb86628cc50b06a3295a6bb6f10ce9f124ac1	Pediatric @DISEASE$ with @PHENOTYPICFEATURE$.	false
+a3ecc74dcc7a77ebbab11ab2f1990a5a41635f96	Paraneoplastic @DISEASE$: no @PHENOTYPICFEATURE$ progression over 5 years.	false
+c404d470f4fd6a204aacca16a9e503b0719446ff	We describe the successful treatment of the neurogenic symptoms of @DISEASE$ and the progressive anemia associated with pure red blood cell aplasia by @PHENOTYPICFEATURE$ excision.	false
+21dbe8e2f64ec2f211110a9dea392bba2a817766	Common paraneoplastic movement disorders include cerebellar syndrome, opsoclonus @PHENOTYPICFEATURE$, basal ganglia disorders, @DISEASE$, and neuromyotonia.	false
+3cf9827a3b27403c33b6372c176184e03ef8936b	Thirteen of 17 patients had phenotypes more typically associated with glutamic acid decarboxylase (GAD65) antibody syndromes, consisting of @DISEASE$ (SPS) with parkinsonism or @PHENOTYPICFEATURE$.	false
+820e200d09a2bf6f8022fd7362b63dfb1fea2505	PNS can involve any part of the nervous system and can present as limbic encephalitis, subacute cerebellar ataxias, opsoclonus-@PHENOTYPICFEATURE$, retinopathies, chronic intestinal pseudo-obstruction (CIPO), sensory neuronopathy, Lambert-Eaton myasthenic syndrome, @DISEASE$, and encephalomyelitis.	false
+9447a357551edfa2cfd16ee8e46e43333b971280	Latanoprost, a prostaglandin F2 alpha analogue, has been shown to be an effective ocular @PHENOTYPICFEATURE$ agent when used alone on ocular hypertensive or @DISEASE$ patients.	false
+d58d4eb83a956be37491f4da46fa336c3fc2a157	In a 3-month, double-masked, randomized clinical trial, the ocular @PHENOTYPICFEATURE$ efficacy and systemic safety of 0.5% levobunolol and 2% carteolol were compared in 59 patients with @DISEASE$ or ocular hypertension.	false
+725e4db6272f1700a678ac9c0f3a8c2503578d29	After a washout of ocular @PHENOTYPICFEATURE$ medication, 286 patients with @DISEASE$ or ocular hypertension were randomly assigned in a 2:1 ratio to receive 0.5% timolol GS in both eyes once daily or 0.5% timolol solution in both eyes twice daily.	false
+3c3f83f5505f78f908fd79dcaa4d9e45a34a44e7	Timolol, a beta-blocker, has been shown to be an effective ocular @PHENOTYPICFEATURE$ agent when used alone or with carbonic anhydrase inhibitor on ocular hypertensive or @DISEASE$ patients.	false
+ed11066ea5c6e79ca45c759b9399af1896cd8f29	The safety and ocular @PHENOTYPICFEATURE$ efficacy of twice-daily administration of brimonidine 0.2% solution or betaxolol 0.25% suspension were compared in subjects with @DISEASE$ or ocular hypertension.	false
+1b7375c5175c8295301fafbccedfb16cb9080fd7	Bimatoprost, a synthetic prostamide analogue, is a new ocular @PHENOTYPICFEATURE$ agent indicated for the second-line treatment of @DISEASE$ and ocular hypertension.	false
+9ce15e0cba2e30f90c37457b94c2f7c619a72f17	Latanoprost, a prostaglandin F2 alpha analogue prodrug, has been shown to be an effective ocular @PHENOTYPICFEATURE$ agent when used alone on ocular hypertensive or @DISEASE$ patients.	false
+98aaef3a619e81be3590934ff61ce0c2b78974b7	The objective of this 28-day study was to evaluate the ocular @PHENOTYPICFEATURE$ efficacy and safety of AR-13324 ophthalmic solution compared with a positive control, latanoprost ophthalmic solution, in patients with @DISEASE$ (OAG) or ocular hypertension (OHT).	false
+493c0c215bc5688eee8c80ba7af130308e57f6a1	In selected patients, however, latanoprost shows an impressive ocular @PHENOTYPICFEATURE$ effect, comparable with that obtained when this drug is used in adults with @DISEASE$.	false
+d6d6087aaa66909b824d331e4d179aed80c5f429	In a 24-hour clinical study, the ocular @PHENOTYPICFEATURE$ activities of 0.5% diacetyl nadolol, 2% diacetyl nadolol, 2% nadolol, and 0.5% timolol maleate in subjects with @DISEASE$ or ocular hypertension were compared.	false
+03fd0ab1f28eb6e897cd9aa3ddd73b63d0b50b04	A 35-month-old black boy with @DISEASE$ (HSS) was evaluated for anterior hypopituitarism when he presented with ketotic hypoglycemia, microgenitalia, and @PHENOTYPICFEATURE$.	false
+2f8b65bc9bf37f88aeb686eb899483293031ec82	Clinically, patients with @DISEASE$ show typical craniofacial dysmorphism, eye malformations, a distinctive facial appearance, abnormalities of hair and skin, @PHENOTYPICFEATURE$, and, interestingly, they might also present with aspects of premature aging.	false
+f5fcaa5ea3ec75d1ad50442bd1b087cef726b3de	@DISEASE$ is a rare genetic disorder characterized by craniofacial malformations, sparse hair, eye abnormalities, dental defects, degenerative skin changes, and @PHENOTYPICFEATURE$.	false
+33e79bd218913e36913e320ddc6ff3691958a9b2	@DISEASE$ is a rare congenital anomaly characterized by a peculiar bird facies, mandibular and maxillary hypoplasia, dyscephaly, cataracts, microphtalmia, hypotrichosis, skin atrophy, and @PHENOTYPICFEATURE$.	false
+fb11b30d101e7333d3cc00a8d2dc49d3581a18d9	Single cases each of anophthalmos, Beh?et's disease, @DISEASE$, hydrocephalus, @PHENOTYPICFEATURE$ and optic atrophy were recorded.	false
+4e70cdbd0d0dc24fc555e60bcfd354fbe7cb16fc	Single cases each of anophthalmos, Beh?et's disease, @DISEASE$, hydrocephalus, macular degeneration and @PHENOTYPICFEATURE$ were recorded.	false
+d4b5b08727b275b170b201f746e9119749f26753	The @DISEASE$ is characterized by a dual predisposition to melanoma and neural system @PHENOTYPICFEATURE$, commonly astrocytoma.	false
+4516de657b2a60d4dccfe5442443ec17c4e6dc94	The presence of germline <italic>CDKN2A/B</italic> inactivation together with the presence of multiple anatomically, histologically, and genetically distinct astrocytic @PHENOTYPICFEATURE$, both with accompanying somatic loss of heterozygosity for the <italic>CDKN2A/B</italic> deletion, led to a diagnosis of familial @DISEASE$.	false
+1f67d145ee9615bb65b47f41d8953e4717c225c4	Association of melanoma, neural system @PHENOTYPICFEATURE$ and germ line mutations at the 9p21 region in the CDKN2A, CDKN2B and CDKN2BAS genes has been reported in a small number of families worldwide and described as a discrete syndrome in melanoma families registered as a rare disease, the @DISEASE$.	false
+4df3f4d6eb6f6a7dfc85f4f25c717d82bcfc2765	Familial @DISEASE$ is a tumor predisposition syndrome caused by inactivating germline alteration of the <italic>CDKN2A</italic> @PHENOTYPICFEATURE$ suppressor gene on chromosome 9p21.	false
+d3e42e4a4c97e39b2b70b4460fdcd78876d309dc	Familial @DISEASE$ is a @PHENOTYPICFEATURE$ predisposition syndrome caused by inactivating germline alteration of the <italic>CDKN2A</italic> tumor suppressor gene on chromosome 9p21.	false
+c43ad163583edfa3512ebc0c017e009bb0830b0d	@DISEASE$ infection presenting with thoracic spinal @PHENOTYPICFEATURE$.	false
+35e655f9864aa9c659e15e0b1b4ba0d43d6b3cbc	Hemorrhagic onset of @DISEASE$ located in the dorsal medulla oblongata presenting with tako-tsubo cardiomyopathy and neurogenic @PHENOTYPICFEATURE$: a case report.	false
+891c3d461c7329ee7f55c81cb57374872bf10114	Using EDI-OCT, retinal tumors such as small retinoblastoma, astrocytic @PHENOTYPICFEATURE$, and @DISEASE$ arose abruptly from the retina, immediately adjacent to normal retina.	false
+797a54d81e40aea7a42d2ab25f092b6137bb20a0	Retinal tumors such as small retinoblastoma, astrocytic @PHENOTYPICFEATURE$, and @DISEASE$ arose abruptly adjacent to normal retina.	false
+d45cc7d93cd696043494585162651a3eaf4e9d64	In contrast, glioblastoma, astrocytoma, oligodendroglioma, ependymoma, meningioma, neurinoma, pituitary adenoma, craniopharyngioma, @DISEASE$, @PHENOTYPICFEATURE$, lymphoma and mesenchymal tumor were all negative.	false
+106e0696694f3f87161bc7d2cdfe5451b817ff5a	[Study of angio-@PHENOTYPICFEATURE$ and @DISEASE$ of the breast (12 observations)].	false
+18f10be78a47766ffa1308a5cd80368ed8cb4a39	@DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+f58edafb1454f08d0bbf08b70f866b5423668acb	These include @PHENOTYPICFEATURE$, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, albinism, @DISEASE$ type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+118bc0b907cd5be6480bdf9387f98cc01337b144	[The gene mutation screening of a family with @DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+cfaa6608188f99f1580fe88f2356cdb94b301afd	Associated systemic abnormalities were @PHENOTYPICFEATURE$, congenital rubella, cleft lip and palate, facial hemangioma, inguinal hernia, clinodactyly, Hurler syndrome, @DISEASE$ and Hallermann-Streiff syndrome.	false
+d04a3afa19313c894bfe023b7141c76ccd6ef8b0	@PHENOTYPICFEATURE$ and other lethal internal anomalies in @DISEASE$.	false
+6e82cabc07fafed7515236edbd4decf2eb7bf417	It is a cost-ineffective treatment for @DISEASE$ patients who have @PHENOTYPICFEATURE$ in their affected better-seeing eyes.	false
+67d823805cc5295dba581f43fe6755310f0e1d42	There were no significant differences in statin use between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+29ca001afb4b50671109b3dd378415c25890a660	Data support the hypothesis of a possible association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8be7a3f1419a2947a5f7188d43b9459b7860ff24	Those with @DISEASE$, @PHENOTYPICFEATURE$, and macular FAF abnormalities are at greater risk.	false
+4ae18012dafcdfa6d39f8f845487aec5b261619a	In this study, we investigated the correlation between @PHENOTYPICFEATURE$ and VECP in volunteers with normal corrected visual acuity and in patients suffering from inherited macular degeneration or from age related macular degeneration (@DISEASE$).	false
+8f161c0259c9aec0b7d413c695b20043b4b6b74d	In this study, we investigated the correlation between @PHENOTYPICFEATURE$ and VECP in volunteers with normal corrected visual acuity and in patients suffering from inherited macular degeneration or from @DISEASE$ (ARMD).	false
+1a2c9f72785e7ef7d602e01dd423cfef0bd55e1d	The aetiology of @DISEASE$ (AMD) and @PHENOTYPICFEATURE$ is poorly understood.	false
+4df47d615255e07497852b77f74e06c0b275f29e	The aetiology of age-related macular degeneration (@DISEASE$) and @PHENOTYPICFEATURE$ is poorly understood.	false
+21716105a33a6253350071b8b840e415fd5abe03	Age-related macular degeneration (@DISEASE$) is a disease that causes @PHENOTYPICFEATURE$ and blindness.	false
+2f12107c6b2e96afd810b6b6de8a7e8f72b5d242	@DISEASE$ (AMD) is a disease that causes @PHENOTYPICFEATURE$ and blindness.	false
+919f0af3a7162b4e66fbd1eaeca6cdf406f784cd	Current smoking is associated with a @PHENOTYPICFEATURE$ improvement after intravitreal ranibizumab therapy in patients with exudative @DISEASE$.	false
+ddff9001050f4418669d1ee3aea0d5e63b8b2e72	Cases were more likely to have cataracts, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+57e11d997763fdf523d11006972b2d2f4957ff09	Clinical features included @DISEASE$, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, @PHENOTYPICFEATURE$, deafness, and peripheral neuropathy.	false
+0b61b90f20b44df715881b2f52662df8c8808af6	We report a child with congenital ataxia, @PHENOTYPICFEATURE$ and developmental delay who presented severe attacks of @DISEASE$ triggered by minor head traumas and associated with hemispheric swelling and seizures.	false
+de6aa334770b424981240c89703efec5cddc27d0	The diagnosis of 'neonatal @DISEASE$' was entertained; the infant remained stable and @PHENOTYPICFEATURE$-free with normal serum biochemistry during 3 months of follow-up.	false
+5725cfb255f8c8e39987db8246206623e13f735f	Two patients (two sisters) presented with @DISEASE$, mental retardation, and posterior fossa malformation including cysts, and @PHENOTYPICFEATURE$ at Brain MRI.	false
+4e09155152af4a6848e7e7d5a8abe8863e363161	Painful craniomandibular dysfunction (@DISEASE$) is often misinterpreted as atypical facial @PHENOTYPICFEATURE$.	false
+929f3c43028a59361fdd32c372f44b8cc92a41a0	Analyses were conducted for six subtypes (ALL, AML, @DISEASE$, HL, NHL and BL) of @PHENOTYPICFEATURE$ and lymphoma.	false
+2395c49db2a9497f312dc1fa686fc0ecee0c102a	Merosin-positive @DISEASE$ in two siblings with @PHENOTYPICFEATURE$ and slight mental retardation.	false
+3ca1c16e4ca93c56f9c418c88aa0d31338a5c93d	@DISEASE$ with adducted thumbs, @PHENOTYPICFEATURE$, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.	false
+d6b9a01b0e8a0ebb551f1f45c7337da8a10a1092	Congenital muscular dystrophy with adducted thumbs, @PHENOTYPICFEATURE$, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of @DISEASE$.	false
+8edcce3288e4c622fa019450492c434db066b0ff	Recently, pathogenic variants in INPP5K have been reported in families with @DISEASE$, intellectual disability, and @PHENOTYPICFEATURE$.	false
+2029da11f1c688b9c27a98fa3e3080b49751991a	[A case of non-Fukuyama type @DISEASE$ with progression in early adulthood, ocular involvement, and @PHENOTYPICFEATURE$].	false
+356af52b8ca15f1af289df2ec2c7694fd4902cf7	The differential diagnosis of craniomandibular dysfunction (@DISEASE$) is of central importance for the therapy and diagnosis of chronic facial @PHENOTYPICFEATURE$.	false
+c585df5417fa44855feddafc50fb166df80b797e	Craniomandibular disorders (@DISEASE$) and atypical facial @PHENOTYPICFEATURE$ (AFP) represent a clinical challenge.	false
+3d6531f9d397724372f0badc85396890a196cac6	Merosin-positive @DISEASE$ with mental retardation and @PHENOTYPICFEATURE$: a new entity in two families.	false
+141f442cf8fb9cde59ed7bf5537490e9a0e62029	A subset of patients with CMTC have @PHENOTYPICFEATURE$, the M-@DISEASE$ syndrome.	false
+a4cab04f4420887575860fc67bdffa6605fb9158	Macrocephaly-@DISEASE$ (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, @PHENOTYPICFEATURE$, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly.	false
+f11878b1ebbf3d8b19e25873a4c2d7651bcbcc6b	A new case of @PHENOTYPICFEATURE$-cutis marmorata telangiectatica congenita (M-@DISEASE$) syndrome is described.	false
+dcd41703df2716705c7015551ec43074b89f458b	We present the clinical history and findings in 4 children and adolescents with the association of @PHENOTYPICFEATURE$ and @DISEASE$ (Macrocephaly-CMTC syndrome).	false
+83438223e03c7e98dbddd2b338821e2c3cacc0cb	We present the clinical history and findings in 4 children and adolescents with the association of @PHENOTYPICFEATURE$ and cutis marmorata telangiectatica congenita (Macrocephaly-@DISEASE$ syndrome).	false
+5e26a4bd7022b1cf1eff0f48ca0ae72a8a83c3f2	One case of @DISEASE$ (CMTC) is reported with cutaneous signs, corporal asymmetry, @PHENOTYPICFEATURE$ and cerebral vascular malformation.	false
+79122e7cb711558aa215ad8bece6c4c0c5a0aca7	Macrocephaly-@DISEASE$ is a multiple congenital anomaly syndrome first described in 1997 in children with @PHENOTYPICFEATURE$, cutis marmorata telangiectatica congenita, and several other abnormalities.	false
+a8962313c71fb7d90fd53175f92694583d55c592	Macrocephaly-@DISEASE$ is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with @PHENOTYPICFEATURE$, cutis marmorata telangiectatica congenita and several other abnormalities.	false
+f326ae84aa01def1bc6a5c484c92f5b8f16e6240	Macrocephaly-@DISEASE$ (M-CMTC) is characterized by @PHENOTYPICFEATURE$, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth.	false
+079b2f69810c4d8c67acd749b44c0bf62d2e5cfe	Patients with M-@DISEASE$ associated with severe postnatal growth failure and @PHENOTYPICFEATURE$ may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death.	false
+82f542d10bffb82f4d2aff8196f194bac2041a87	Macrocephaly-@DISEASE$ (M-CMTC) is a newly described condition characterized by @PHENOTYPICFEATURE$ (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations.	false
+8dc99c8df6675cce7871d17e6de9bebc3f7cc06b	We report a boy with @PHENOTYPICFEATURE$, melanotic patches ("coast-of-Maine" type), myelofibrosis, recurrent femoral fractures, and widespread @DISEASE$.	false
+522a769269831b6233d95ff5c2987467c17e70e2	We describe a boy with a molecularly confirmed MAS, clinically evident with congenital caf?-au-lait spots, bone @DISEASE$, hyperthyroidism, and renal phosphate @PHENOTYPICFEATURE$.	false
+6ca10f76f7fd8054bab3ecb0b2f710f71931c331	Fronto-orbital @DISEASE$ can have a devastating outcome with high recurrence rates and @PHENOTYPICFEATURE$, especially following incomplete resection.	false
+c19d4297bb295776536e2e85ec73e4d5137fce4a	The patient of Case 1 had @DISEASE$ on the upper and lower limbs, thorax, face and cranium, early puberty, @PHENOTYPICFEATURE$, hyperthyroidism and high serum alkaline phosphatase levels.	false
+439a6d629f042183870a2c796b6c4055f6e51001	We report a case of a previously healthy forty-year-old man with bilateral @PHENOTYPICFEATURE$ secondary to bilateral medial @DISEASE$.	false
+88551607f23e309267b8b4085b57c1349f8e53b1	We report a 3-year-old boy with extreme @DISEASE$ involving the skull base, who presented with @PHENOTYPICFEATURE$.	false
+dedd22465111bff8f6c395cb49c69390c47dd5a5	As @DISEASE$ of the orbital bones can be a cause of significant dysfunction and a treatable cause of @PHENOTYPICFEATURE$, early diagnosis is very important.	false
+1590dce05d5386ae71899678fea0e7a1de9a95a5	Long-term outcome of optic nerve encasement and optic nerve decompression in patients with @DISEASE$: risk factors for @PHENOTYPICFEATURE$ and safety of observation.	false
+da39d781aa4e9031bb9d0cba836209531d5afc9c	Medial @DISEASE$ was present as often with bilateral as with unilateral @PHENOTYPICFEATURE$, while perimedial elastic dysplasia was seen exclusively in patients with bilateral renal artery disease.	false
+51d14842998400f419d1dfaeade8e26250b8d8ca	Some patients have an associated @PHENOTYPICFEATURE$, either parkinsonism, as in progressive supranuclear palsy and corticobasal syndrome, or motor neuron disease (@DISEASE$).	false
+1d3ed4c3f0e914880906545174f9ffc0bd1980a5	However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (@DISEASE$), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, @PHENOTYPICFEATURE$, and speech/language impairment.	false
+9a7ac5883fe24a1bda0e50438bb6793ec8394417	However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (@DISEASE$), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability, and speech/@PHENOTYPICFEATURE$.	false
+965b3f9d9c5957dfbabf16dc8d036abed1d5b1f6	Two participants, 1 of whom was among the 8 with @DISEASE$, met criteria for @PHENOTYPICFEATURE$ or hyperkinetic dysarthria.	false
+8a3c7c06986b273e27ca7f8762fb624874ad0ea0	To characterize the presenting characteristics, preoperative clinical activity score (@DISEASE$), surgical approach, and visual outcomes in patients with thyroid eye disease undergoing repeat orbital decompression for recurrent or recalcitrant compressive @PHENOTYPICFEATURE$ (CON).	false
+cc6f8765e45a4cb4474811ab5a223629e1db6bfc	In 12 (1/49,925) of the 27 PMD @DISEASE$ hypoplasia and/or @PHENOTYPICFEATURE$ of the ipsilateral hand was also diagnosed.	false
+62a69caba08f3f9f2ad644949e5ce17e8094e098	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed CAS-dysarthria.	false
+cf2e746616e5ba90cf6c49462cd1a9f3c465b809	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with @PHENOTYPICFEATURE$ dysarthria, and 3% with mixed @DISEASE$-dysarthria.	false
+1eaea5d1ecc00b4cd3555d5102fc750bfc6936c5	In the present study of 33 children with classic galactosemia, 21% were diagnosed with CAS, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed @DISEASE$-dysarthria.	false
+b4931f0dc437d37382b048cfb5784f7646da85ac	In the present study of 33 children with classic galactosemia, 21% were diagnosed with @DISEASE$, 3% with ataxic @PHENOTYPICFEATURE$, and 3% with mixed CAS-dysarthria.	false
+439cb2b1ff4cbd7234b615e0d6b4898ec71bda6f	The BEAUTIFUL trial demonstrated the benefits of ivabradine on prognosis (only on ischemic endpoints) in patients with coronary artery disease (@DISEASE$) and @PHENOTYPICFEATURE$ (LVSD) and HR ? 60 bpm.	false
+514531549d161407f74ea6ba9e5079a5a64901f0	This effect did not depend on the presence or intensity of audiogenic @PHENOTYPICFEATURE$ during @DISEASE$.	false
+37662e3e25645a3a68fe30ccb19b0c4a9daa7d87	Increased cluster genetic risk scores were associated with distinct clinical outcomes, including @PHENOTYPICFEATURE$, coronary artery disease (@DISEASE$), and stroke.	false
+43e1109bbee2411decd85a929669b2c98aed63a7	A diligent search for such clinical markers, namely xanthelasma, @PHENOTYPICFEATURE$, arcus juvenilis, acanthosis nigricans, skin tags, ear lobe crease, nicotine stains, premature graying in smokers, hyperpigmented hands in betel quid sellers, central obesity, and signs of peripheral vascular disease may prove to be a rewarding exercise in identifying asymptomatic @DISEASE$ in high risk individuals.	false
+3a79f31a1bd9dcb93b644f82a0ecd54901125182	A diligent search for such clinical markers, namely @PHENOTYPICFEATURE$, xanthoma, arcus juvenilis, acanthosis nigricans, skin tags, ear lobe crease, nicotine stains, premature graying in smokers, hyperpigmented hands in betel quid sellers, central obesity, and signs of peripheral vascular disease may prove to be a rewarding exercise in identifying asymptomatic @DISEASE$ in high risk individuals.	false
+45738e63877d11202c1c68daf065b4ba129c736c	This study examined speech perception abilities among children with @DISEASE$ with and without language impairment compared to those with @PHENOTYPICFEATURE$, speech delay, and typically developing peers.	false
+2f34b47e65a0255950dc64340a88eaa9c0b9563d	Thirty five patients were recruited with @DISEASE$ from dermatology clinics at St Mary's Hospital, London and Queen's Medical Centre, Nottingham and investigated for evidence of @PHENOTYPICFEATURE$.	false
+9563644e38920b95cf44498f8378caa95a538e2f	Conditions in this category include @DISEASE$ (DH), irritable bowel syndrome (IBS), and neurologic diseases such as gluten-sensitive ataxia and @PHENOTYPICFEATURE$.	false
+abfe470ef2619e225b0764e470155ab9873f2391	Search terms included: pediatric multiple sclerosis OR pediatric onset multiple sclerosis OR @DISEASE$ AND health behavior OR physical activity OR sleep OR diet OR nutrition OR @PHENOTYPICFEATURE$.	false
+d40a5996eccaaefd115515437b270428d344d46b	In contrast, the only independent risk factor associated with @DISEASE$ due to MSSA was @PHENOTYPICFEATURE$ (OR, 2.49; 95% CI, 1.25-4.96).	false
+18b6556c6c009a8f56ff62efc2ac75f8e3267e1f	Due to the unique association of GH deficiency with intestinal, genital, and @PHENOTYPICFEATURE$, we believe that our patient may represent a further case of @DISEASE$.	false
+aad131eefbe778a7d8b738811edd01350620515e	Nucleotide insertions that modify the C terminus of ferritin light chain (FTL) cause neurodegenerative @PHENOTYPICFEATURE$ @DISEASE$ neuroferritinopathies, which are inherited with dominant transmission.	false
+2d19000d3da545508f6a85e9a39aaf2a3a9235c7	Mutation in low density lipoprotein (LDL) receptor gene causes an inherited primary @PHENOTYPICFEATURE$ @DISEASE$ familial hypercholesterolemia (FH).	false
+04063a9d89597c2b968ac1e49a5fef68f9b73c8c	A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and @PHENOTYPICFEATURE$ @DISEASE$ Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause.	false
+d23ee12b5efb7a450b0fe9c2c0cfddf4d6c4130c	Treatment of @DISEASE$ caused by SLC2A1 de novo @PHENOTYPICFEATURE$ with ketogenic diet: A case report.	false
+3962071ef158e00f62a0280b321db3b6fb70e0c7	Most were male patients (44 [64%]), and most had @DISEASE$/hypohidrotic ED (42 [61%]), with the remaining having Hay-Wells, Clouston, and @PHENOTYPICFEATURE$ ED clefting syndromes and unclassified types of ED.	false
+c4d7477191e6d3c3f0558374b1fa1c01a010ed21	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, @DISEASE$, Pfeiffer syndrome, and Jackson-Weiss syndrome.	false
+6b9f8b23ab566744af59e9ed8aef098882a41d21	We report here the identification of a mutation in the transmembrane region of FGFR3, common to three unrelated patients with classical @DISEASE$ and acanthosis nigricans, a dermatological condition associated with thickening and @PHENOTYPICFEATURE$ of the skin.	false
+32e9ff070aa30f7251cb4c0d55389b470c8fd9ed	We present the first reported case of @DISEASE$ associated with a bilateral con- genital @PHENOTYPICFEATURE$ of the temporal bone and discuss about the potential pathogenesis.	false
+0c9085152e96e60e929f5c809a12e058e7193483	Bilateral congenital @PHENOTYPICFEATURE$ of the temporal bone in @DISEASE$.	false
+bcf5c11bd30ea864f751ce9171d9f2ea23c3c9ee	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of osteosarcoma, @DISEASE$, alveolar soft part sarcoma and pleomorphic spindle cell sarcoma).	false
+f34ae3f0dffc990feab8a64c8ccdbf0e8d53257c	@DISEASE$ is a devastating disease and can occur in patients with a variety of risk factors, the most important of which are immunosuppression, anatomic barrier breakdown, iron overload, and hyperglycemia/@PHENOTYPICFEATURE$.	false
+31c76168b405615c07f33cb588c1526353565495	@DISEASE$ is a devastating disease and can occur in patients with a variety of risk factors, the most important of which are immunosuppression, anatomic barrier breakdown, iron overload, and @PHENOTYPICFEATURE$/acidosis.	false
+4ce10f7fe5233590ec20b9e3cd4d743138c21560	MRI findings of rapidly progressive ophthalmoplegia and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cf24fb1035a3b313ce5c21ba168255123d1c3916	The most common toxicities of all grades were anemia (81.8% of patients), asthenia (81.8%), anorexia (79.6%), hand-foot syndrome (79.6%), acneiform skin eruption (77.2%), and @PHENOTYPICFEATURE$ (75.0%), and they were mostly grade 1 or 2. Grade 3-4 hematologic toxicities were uncommon (anemia, 6.8%; @DISEASE$.3%).	false
+28d519791a010a8f0a2b6c0b1fba973e9f8ceed8	Rates of grades 3 or 4 adverse effects for TH and TCH, respectively, were neutropenic-related complications, 29% and 23%; @DISEASE$% and 15%; anemia, 5% and 11%; @PHENOTYPICFEATURE$, 3% and 0.8%; fatigue, 5% and 12%; peripheral edema, 3.8% and 1.5%; and diarrhea, 2% and 10%.	false
+34e855e254f8121a7725f834d470b9eb74dcd79c	Recombinant adeno-associated viral vectors (rAAVs) have been widely used for gene delivery in animal models, and are currently evaluated for human gene therapy after successful clinical trials in the treatment of inherited, degenerative or acquired diseases, such as @DISEASE$, Parkinson disease or @PHENOTYPICFEATURE$.	false
+94f55a8d58165d8cbc084c37a0da35637da694c5	In contrast, @DISEASE$ @PHENOTYPICFEATURE$ that were not encapsulated had extrathyroidal spread in 67% and had distant metastases in 87% of patients.	false
+7549ab134fed450b46ccac789ec885c674757a25	The two patients described elsewhere who have MYO5A mutations and neurological complications but no immunologic defects may not have GS but instead may have @DISEASE$, a condition characterized by mild @PHENOTYPICFEATURE$ and severe, primary neurological abnormalities.	false
+578fa7cc5c3e7e2906671eeed3c888c0ca669c50	An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and @PHENOTYPICFEATURE$ consistent with @DISEASE$ (neuroectodermal melanolysosomal disorder).	false
+a9e6be516d414393cdba0a2f36f9338dff897641	We describe a fourth case of Elejalde's syndrome (@DISEASE$) in an 18 week fetus which had the typical features of craniosynostosis, gross oedema, @PHENOTYPICFEATURE$, postaxial polydactyly, redundant connective tissue and cystic renal dysplasia.	false
+8a9f9d3c0a548dcc7c05ef2403288577afa8f006	We report a rare case of @DISEASE$ with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral @PHENOTYPICFEATURE$.	false
+b90cca9bdce21565e2fa5d6c5b172a1c91a29a8c	We report a rare case of @DISEASE$ with autoimmune diabetes (requiring insulin therapy), bilateral @PHENOTYPICFEATURE$ and unilateral glaucoma.	false
+78c8f5c4b765b06ca7a0b998336c9bc58ab6371e	@DISEASE$ (SCT) is a rare group of skeletal dysplasias, characterized by @PHENOTYPICFEATURE$ with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild facial dysmorphisms.	false
+e574e1737e40090ad56b0a4c7d8cb73c08e9607f	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, vertebral anomalies and fusion of carpal and tarsal bones.	false
+9c91fc91114598964e92dd49d03696a0546132a7	@DISEASE$ is characterized by disproportionate short stature, @PHENOTYPICFEATURE$ and fusion of carpal and tarsal bones.	false
+3223c6aac1cd76605b70d7774e32714ae21b7c25	We report on a 5-year-old boy with @DISEASE$ (SCT) syndrome who presents with @PHENOTYPICFEATURE$, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild facial dysmorphisms.	false
+435575dd4e22ba0098b2bb742f921b02b1a4e8f0	We report on a 5-year-old boy with spondylocarpotarsal synostosis (@DISEASE$) syndrome who presents with @PHENOTYPICFEATURE$, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild facial dysmorphisms.	false
+33771e7400d7eed527b6b68277002df929bfd6aa	Several other comorbidities, lower educational level, lower income, and @PHENOTYPICFEATURE$ were also independently and significantly associated with lower scores of PCS and/or @DISEASE$ and several generic and kidney disease-targeted scales.	false
+03ac2637e7756d6f2897104e90bce16136425b77	We have also found that post-stroke @PHENOTYPICFEATURE$ and motor weakness can sometimes be controlled by motor cortex stimulation (@DISEASE$).	false
+fac8bc79c278f63a277befce121227d195195ef1	Since initial reports in the early 1990s, stimulation of the M1 region of the cortex (@DISEASE$) has been used to treat chronic refractory pain conditions and a variety of @PHENOTYPICFEATURE$.	false
+47053f9f8deead96123c761366c0fb883e9f6db4	The reversibility of DBS and @DISEASE$ makes them an important option for the control of post-stroke @PHENOTYPICFEATURE$ and post-stroke pain.	false
+010477732e857bd12b666ab33f6950dc3bd98600	In this article, we review the mechanism of action of @DISEASE$ in @PHENOTYPICFEATURE$, the predictive factors of MCS efficacy in PD, the indications, particularly in the elderly who are not suitable for DBS, the adverse effects, and the technique for localization of the central sulcus and for performing the procedure.	false
+6a1780f316ebc810f859db38167eefe98a35c129	Our experience of deep brain stimulation (DBS) and motor cortex stimulation (@DISEASE$) in patients with post-stroke @PHENOTYPICFEATURE$ and post-stroke pain is reviewed.	false
+d3b7c542566ead9a8d5ee5bb6c61c7bc77a0a0eb	Motor cortex stimulation (@DISEASE$) is a treatment option for various disorders such as medically refractory pain, poststroke hemiplegia, and @PHENOTYPICFEATURE$.	false
+4997896357d79a52f503045fbf0f91199fbf0836	Progression of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d06bb0c0c3e03dc9719f802602080ba8c3bb9920	The rate of @PHENOTYPICFEATURE$ and its relationship to clinical disease progression in progressive supranuclear palsy (PSP) and @DISEASE$ (MSA) is not clear.	false
+ddf3fd6cdf9499de5dcdca242ad9712ee1e0aeea	Reduced orexin immunoreactivity has been reported in various neurologic conditions such as narcolepsy, Alzheimer's disease, Lewy body disease and @DISEASE$ (MSA); however, there has been no report investigating orexin in Perry syndrome, a rare hereditary neurodegenerative disease characterized by four clinical cardinal signs (parkinsonism, depression/apathy, @PHENOTYPICFEATURE$, and central hypoventilation).	false
+eff3723502942d808ff9a66897109ce6af0081b7	In the OFF condition, subjective and objective @PHENOTYPICFEATURE$ thresholds were significantly lower in @DISEASE$ patients than in healthy controls (43.8??C???1.3 vs 45.7??C???0.8; p?=?0.0005 and 7.4?mA???3.8 vs 13.7?mA???2.8; p?=?0.002, respectively).	false
+7f378e981584632d13c5cd3b252b9b2f32b79b74	Chronic spontaneous @PHENOTYPICFEATURE$ is a clinically relevant non-motor symptom in @DISEASE$ (MSA) and Parkinson's disease (PD).	false
+254d2252d8bab50f6ebab62349fe2ba4c2ddfd12	Patterns of @PHENOTYPICFEATURE$ in Parkinson's disease, progressive supranuclear palsy and @DISEASE$.	false
+8d6dbe8e431e1b2b174f7e737130186a7224e1e8	Quantitative analysis of @PHENOTYPICFEATURE$ may be useful in differentiating Parkinson's Disease (PD) from Progressive Supranuclear Palsy (PSP) and parkinsonian variant of @DISEASE$ (MSA-P); the aim of this study was to identify the volumetric differences of subcortical structures in patients with PD, PSP and MSA-P using a novel and validated fully-automated whole brain segmentation method.	false
+2de66e5b0e7e0e3bc565a11cc366adae84305565	Compared to HC, @DISEASE$ patients had lower heat @PHENOTYPICFEATURE$ sensitivity, whereas PD patients had reduced NFR threshold.	false
+90943cc8012735e2bb26d43515bb9ff88451c46e	We investigated a progression of @PHENOTYPICFEATURE$ and somatosensory system dysfunction in @DISEASE$ (MSA).	false
+fa1722c24ccb4fc12c41faea0f8516910740d17b	Progressive supranuclear palsy (PSP) and multiple system (@DISEASE$) atrophy are associated with progressive @PHENOTYPICFEATURE$.	false
+916cfb8b335f6ac0a7827953c912bf86d76e7a95	Reversibility of corticosteroid-associated @PHENOTYPICFEATURE$ in children with the @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+0dd8d070115ddd3eb1b5f367cf6a681b85b3222b	One case showed associated @DISEASE$ and two cases were associated with peripheral blood @PHENOTYPICFEATURE$.	false
+4efc0628f77807f292eb23a6d83166a14941434c	A 14-year-old boy presented with fever, @PHENOTYPICFEATURE$, hepatosplenomegaly, generalized lymphadenopathy and @DISEASE$.	false
+e5e9acadb101f4077207e4d344c6f2cc5daf285a	Quiz page December 2013: @PHENOTYPICFEATURE$, bowed elbows, and @DISEASE$.	false
+a52526444338601c289dff8ba1f4a8527eacb261	A 39-year-old woman presented with hypertension, @DISEASE$, @PHENOTYPICFEATURE$, microscopic hematuria and progressive renal dysfunction.	false
+2deef37185327fe7988b9f2255a9cb928f7bf46c	Long courses of oral corticosteroids are commonly used in children in the management of conditions such as @DISEASE$, @PHENOTYPICFEATURE$, asthma and others.	false
+765a8e03b7d68fd9a52138659e0458be6f39bb16	@PHENOTYPICFEATURE$ and @DISEASE$ related to autoimmune hypothyroidism.	false
+191cbb36633089020e05d3dc0ed744c9ad050eb6	Among patients with urinary tract infection (UTI), 2.6% had febrile seizures, 11.1% of those with glomerulonephritis had encephalopathy, and 3.7% of those with @DISEASE$ had cerebral @PHENOTYPICFEATURE$.	false
+3d9f485079ed2acc5758937c4907982a866cb7e8	Cortisone @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+ce3dce62b9c9b6de5de052d40060915ad3b31eb4	@DISEASE$ that has received great attention is the Williams-Beuren syndrome, which courses with @PHENOTYPICFEATURE$, hypercalcemia, characteristic facies, and supravalvular aortic and pulmonary stenosis.	false
+4b132efb676b39358ad3e95c79ade212915b378e	Diagnostic difficulties result from a fact that symptoms of acute hematoma such as headache, nausea, @PHENOTYPICFEATURE$, apathy, sleepiness, paresthesia and seizures may also suggest @DISEASE$, dialytic dementia as well as hypertensive encephalopathy.	false
+c366bf736001a06bb48dde208299294e18048c21	The younger daughter and son had newly recognized findings of the @DISEASE$ including @PHENOTYPICFEATURE$ and supernumerary flexion creases of the fingers.	false
+28677de40b15303b64616f449121576d3dc7f359	Our previous investigations demonstrated that the Belgian Waterslagers (@DISEASE$) canary (Serinus canarius) was affected by an inherited @PHENOTYPICFEATURE$.	false
+900f08853be41db68cb1d7120884fdb229860979	In patients with @DISEASE$, a progressive @PHENOTYPICFEATURE$, caused by stapedial footplate fixation, may develop after birth.	false
+1e6cb0167b487f6fd757f5e92c3e5ff62ae8f046	Two patients with @DISEASE$, a woman and her younger brother, who presented with @PHENOTYPICFEATURE$ caused by middle ear anomaly are reported.	false
+492ceced6a4ab427727f0ba5fa9578554c9cf848	Beckwith-Wiedemann syndrome (@DISEASE$) is an overgrowth syndrome associated with macroglossia, abdominal wall defects, @PHENOTYPICFEATURE$, and an increased risk for embryonic tumors.	false
+b37b232da8dcec39cb73f6db4ab7378d3e0cd5eb	@DISEASE$ (BWS) is an overgrowth syndrome associated with macroglossia, abdominal wall defects, @PHENOTYPICFEATURE$, and an increased risk for embryonic tumors.	false
+13dab0288eb9e1af569c2d0aee24fc1ad2f728df	We describe a patient with @DISEASE$ having a progressive @PHENOTYPICFEATURE$ caused by a stapedial footplate fixation occurring during preschool age.	false
+2ab16a633e3a280d2c01bacebca7d303bada6275	A case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+f5d98e0b76702b348ef7bc7b3859c9701d2be526	A case of @DISEASE$ with @PHENOTYPICFEATURE$ due to fixation of the stapes is described.	false
+db8c9685e86aec3e774148a9a16882df5558c9f3	Nephrogenic rests are associated with many syndromes, including @DISEASE$, hemihypertrophy, and sporadic @PHENOTYPICFEATURE$.	false
+892ac0ff88ccf2c813d3d1afbd239c8285597e61	@DISEASE$ (BWS) is a distinct overgrowth condition characterized by macroglossia, abdominal-wall defects, visceromegaly, embryonic tumors, hemihyperplasia, @PHENOTYPICFEATURE$, renal anomalies, and neonatal hypoglycemia.	false
+9a8dabdff900636f4d4f7eb377917f06123465dd	Beckwith-Wiedemann syndrome (@DISEASE$) is a distinct overgrowth condition characterized by macroglossia, abdominal-wall defects, visceromegaly, embryonic tumors, hemihyperplasia, @PHENOTYPICFEATURE$, renal anomalies, and neonatal hypoglycemia.	false
+cd5814030fea96a4871bde3efac8e1721bf5716a	Male sex, lower creatine kinase levels, slower rate of progression, and @PHENOTYPICFEATURE$ were also more common in inclusion body myositis and unresponsive polymyositis than in responsive polymyositis and @DISEASE$ patients.	false
+2f84c2c70c4feb778d8d7ae7f1849742a2823eef	Patients were categorized prebiopsy into six groups: M (myopathy and muscular dystrophy), MM (mitochondrial or metabolic myopathy), N (neurodegenerative, @PHENOTYPICFEATURE$ or spinal muscular atrophy disorder), D (@DISEASE$), C (cardiomyopathy), or S (seizure disorder).	false
+813b09c049c5d6e6a4a25775b8b1ddbe4c4215ce	We discuss the indication of plasmapheresis in Guillain-Barr? syndrome, multiple sclerosis, chronic inflammatory demyelinating polyneuromyelopathy, HTLV-1 myelopathy, HIV @PHENOTYPICFEATURE$ and myelopathy, paraproteinemias, polymyositis, and @DISEASE$.	false
+cacdce1fd48c20b79e8891f24c533aecfc839172	Main features of @DISEASE$ are @PHENOTYPICFEATURE$ concomitant with premature loss of primary and permanent dentition due to progressive periodontitis.	false
+2bae1fb7ec84a0f672857adb2ccfef317f4fda69	Papillon-Lef?vre syndrome (@DISEASE$), @PHENOTYPICFEATURE$ with periodontitis, has been genetically characterized.	false
+d5f75f0dfb56e152c9136dcdf260099dd0c78ee8	Papillon-Lef?vre syndrome (@DISEASE$) is an autosomal recessive disease, characterized by severe periodontitis and @PHENOTYPICFEATURE$.	false
+f1742e99d17cffb5e2de5def40a50ffa7b7842fa	Papillon-Lef?vre Syndrome (@DISEASE$) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and severe periodontitis affecting both primary and secondary dentitions.	false
+b64e764277598b095b7acb9d08cf7cf8a3d9402f	Papillon-Lef?vre syndrome (@DISEASE$; OMIM 245000) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ and periodontitis.	false
+f2d4b5c6f4c598708f52ea8d66fe0f50edd436cf	Papillon-lefevre syndrome (@DISEASE$) belongs to a heterogeneous group of skin diseases that are characterized by @PHENOTYPICFEATURE$.	false
+f303473b640b49a288d0d015d1f04ff53cf9a430	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder of keratinization, characterized by @PHENOTYPICFEATURE$, periodontal involvement and precocious loss of dentition.	false
+801f1c35bd099263eb47541bf049c41efd6e549b	Papillon-Lef?vre syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ caused by cathepsin C (CTSC) gene mutations.	false
+3009742f6662e5a467e7ba427c34df6a0b2ac845	Papillon-Lefevre syndrome (@DISEASE$) is an autosomal recessive disorder characterised by severe early onset periodontitis and @PHENOTYPICFEATURE$.	false
+1c6d676cb1f0ae4e504e2643754805059babcebf	Papillon- Lef?vre syndrome (@DISEASE$) is a rare autosomal recessive disorder of keratinization characterized by @PHENOTYPICFEATURE$, periodontopathy and precocious loss of dentition.	false
+08a0b2e381265c2a081e83295c810af084f8019f	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and @DISEASE$.	false
+f3e1cbebda964a15b312509e8171c7ae38f07eee	Histologic measurements and fine structure of biopsied sural nerve: normal, and in @DISEASE$, hypertrophic neuropathy, and congenital @PHENOTYPICFEATURE$.	false
+e25cbbab73d21e40b6a43dab7482322e8f2f7308	A small number of similar cases of @DISEASE$ with various @PHENOTYPICFEATURE$ in the literature suggest that the association is not incidental, but of clinical significance.	false
+f7da0ec4a21367aad51d8cc6140cb9e98221eefd	Mutations in GDAP1 lead to severe forms of the peripheral motor and @PHENOTYPICFEATURE$, @DISEASE$ (CMT), which is characterized by heterogeneous phenotypes, including pronounced axonal damage and demyelination.	false
+7e2a0fcab5bddae43e7e69b6d62baf0ae909b70e	@DISEASE$ associated with 'essential tremor' and normal and/or slightly @PHENOTYPICFEATURE$ conduction velocity.	false
+f1aab7e8797e843a21aa73c96b0a0609dd616ac9	@DISEASE$ type V is a very rare disease in which hereditary spastic paraplegia is associated with peripheral motor and @PHENOTYPICFEATURE$.	false
+0189598a0e409fc7db38c5f4db519c2b0e0e2c4c	The more profound @PHENOTYPICFEATURE$ include Leigh disease, spinocerebellar degeneration, and atypical @DISEASE$.	false
+e4a7a4c40d0a11d994cda6da5553448464d5e9b6	Hypertrophic motor and @PHENOTYPICFEATURE$ type I (@DISEASE$): ultrastructural study of sural nerve biopsy in members of a family.	false
+8687e1ad9efe44dc10cdd8a79fa0b29a3413edf9	@DISEASE$ (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and @PHENOTYPICFEATURE$.	false
+6c89eef873c681d2add496b5d0db07275abcbbc8	Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor @PHENOTYPICFEATURE$ type II (HMSN-II), one form of @DISEASE$.	false
+f3d76452587d42c43814f5952e2a519c3253b673	Differential diagnosis of this syndrome include other forms of neuromuscular disorders with @DISEASE$ like hereditary motor @PHENOTYPICFEATURE$ (HMSN) and distal myopathies, which need exclusion before confirming this rare entity.	false
+9e9ef663eef9b7e8bb1f77d8be2a55029d75cd47	It is common for arm pain to cause @PHENOTYPICFEATURE$ and in such cases it is worth considering cervical causes, @DISEASE$ and the thoracic outlet syndromes.	false
+fd5cc8477f381fb5d9d7d858cf40a5c9e1c049fd	@PHENOTYPICFEATURE$ are common in patients with @DISEASE$ (CTS).	false
+f87ffee209dd40bd7f8d88d3c8ce7eba12e1d8c2	Childhood @DISEASE$ have a wide clinical spectrum, motor @PHENOTYPICFEATURE$ and are variably inherited.	false
+527323ce66588f67c8d0f47bb04a08f314622605	Autosomal recessive, fatal infantile @PHENOTYPICFEATURE$ @DISEASE$ among Canadian Natives.	false
+d9fbb445feb914b19e7995dc2430a91eeb7f69fc	Hypertrophic @DISEASE$ was diagnosed in a 10-month-old male Rat Terrier with hypersalivation, dysphagia, @PHENOTYPICFEATURE$, and generalized weakness.	false
+bcdffec1456da547f66ed721ad2d48e66c0edac1	Association of schizophrenia and @PHENOTYPICFEATURE$ with facio-scapulohumeral @DISEASE$.	false
+0437f496b5d2c97d11c6a6738f3059de322a3553	Myotonic @DISEASE$ is a genetic disease characterized mainly by muscle atrophy and @PHENOTYPICFEATURE$, a repetitive electrical activity of muscle.	false
+a28496cfd0738547310cbd2bc0d6386f040a5d56	[@DISEASE$, congenital with @PHENOTYPICFEATURE$, Fukuyama type].	false
+00a8b4b2f188c024ca5415832f3a92e556f6eb21	Diagnoses included cerebral palsy (61), @PHENOTYPICFEATURE$ (22), @DISEASE$ (10), and other neurological etiologies (7).	false
+92170cb0afb49a4ceab75a4506d7ca58856b0a94	Myotonic Dystrophy type 1 (DM1) is the most common form of adult-onset @DISEASE$ primarily characterized by muscle @PHENOTYPICFEATURE$, weakness and atrophy.	false
+89353158e52ae831af6f265510858e2ab7965b77	Inflammation and cardiac dysfunction during @PHENOTYPICFEATURE$, @DISEASE$, and myocarditis.	false
+6c5839b7d5f30689f770a050b133c839eec651f9	[Autosomal recessive pseudohypertonic @DISEASE$ with @PHENOTYPICFEATURE$.	false
+2aaf1b0594b6158b7541b25ff29876985305547c	Through clinical exome sequencing (@DISEASE$) of an 8-year-old girl with a clinical history of global developmental delay, microcephaly, microtia with hearing loss, @PHENOTYPICFEATURE$, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c.205C>T; p.(Arg69*)) in the integral cohesin structural protein, STAG2.	false
+2f4652035fe420c07a5e4bef030867e02e2a4c4d	@PHENOTYPICFEATURE$ sleep, depressive symptoms (Center for Epidemiological Studies-Depression scale [@DISEASE$-D]), and number of chronic medical conditions (hypertension, diabetes, chronic lung disease, heart disease, stroke, cancer, and arthritis) were measured in 1986, 2001, and 2011.	false
+d495648157b1d042dd65839f3f808802be11696a	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, @PHENOTYPICFEATURE$ and frequently mental and physical retardation.	false
+cc4a504ebb671db7a6dd99da1236bd9a0124cae3	However, a number of other lesions can mimic the CT appearance of pancreatic neuroendocrine tumors, including pancreatic metastases, acinar cell carcinoma, @DISEASE$, solitary fibrous tumor, pancreatic @PHENOTYPICFEATURE$, serous adenoma, intrapancreatic splenules, exophytic gastrointestinal stromal tumors, and peripancreatic paragangliomas.	false
+f31b2c55245f07770cd950462a06c8a4b6f8a22b	The antitumor effect of OBP-702 was further assessed using an orthotopic OBP-301-resistant MNNG/@DISEASE$ osteosarcoma xenograft @PHENOTYPICFEATURE$ model.	false
+fb52bfbae59a0f0ad28caf8c6a8343282b3c55eb	Moreover, OBP-702 suppressed @PHENOTYPICFEATURE$ growth in an orthotopic OBP-301-resistant MNNG/@DISEASE$ xenograft tumor model.	false
+63617929afe6d73b4213930a8e86c78af6b44022	Moreover, OBP-702 suppressed tumor growth in an orthotopic OBP-301-resistant MNNG/@DISEASE$ xenograft @PHENOTYPICFEATURE$ model.	false
+4f97b54806b76a88a10b6c41ab297d238ca1c043	rAd-RASSF1A injection significantly inhibited the growth of xenograft MNNG/@DISEASE$ @PHENOTYPICFEATURE$ in mice.	false
+77413e30e0d8f2a4a40eba0ebafedffb4544dc9d	Likewise, oxymatrine significantly suppressed @PHENOTYPICFEATURE$ growth in female BALB/C nude mice bearing MNNG/@DISEASE$ xenograft tumors.	false
+6c0e49c50617701bca5416fde6eb899c2cc6ba70	Likewise, oxymatrine significantly suppressed tumor growth in female BALB/C nude mice bearing MNNG/@DISEASE$ xenograft @PHENOTYPICFEATURE$.	false
+5b48400c503944db7a28250953d9d2a807b2a598	MZ-4-71 treatment of either SK-ES-1 or MNNG/@DISEASE$ tumor-bearing animals decreased @PHENOTYPICFEATURE$ tissue IGF-I levels.	false
+0586fecb27e12cd7a73cd253c0d5345b724c5571	MZ-4-71 treatment of either SK-ES-1 or MNNG/@DISEASE$ @PHENOTYPICFEATURE$-bearing animals decreased tumor tissue IGF-I levels.	false
+e146bcf88d3ec1da11027028ad0118301b107e4f	In addition, MNNG/@DISEASE$ xenograft @PHENOTYPICFEATURE$ were established in nude BALB/c mice to evaluate the anticancer capacity of GA in vivo.	false
+64460e75a921ad875949e1f6c3ad3fff77383d3f	In those 11 cases in which both HOS and FS were positive, specificity for significant @PHENOTYPICFEATURE$ was 100% but sensitivity decreased to 25% (less than @DISEASE$ alone, P < 0.05).	false
+1f081e99950075ec076c647f3eac08799c32d314	In those 11 cases in which both @DISEASE$ and FS were positive, specificity for significant @PHENOTYPICFEATURE$ was 100% but sensitivity decreased to 25% (less than HOS alone, P < 0.05).	false
+39d7bf67b7c95ba833959876b61250328f4c28f3	In vivo experiment, baicalin significantly suppressed tumour growth in female BALB/C nude mice bearing @DISEASE$ @PHENOTYPICFEATURE$.	false
+634e2110649a5b78bece3b9b9208e24fc7d43494	In vivo experiment, baicalin significantly suppressed @PHENOTYPICFEATURE$ growth in female BALB/C nude mice bearing @DISEASE$ tumours.	false
+77650c76f4884c8cc1ea32f7b888e46e8aaa2657	They include @DISEASE$/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH deficiency/TBX19 and @PHENOTYPICFEATURE$ with ankyloglossia/TBX22.	false
+1418488776efdaa280866fafdd387e4685a07c5c	In vivo, BALB/c mice were inoculated subcutaneously osteosarcoma cell @DISEASE$ for developing hypodermal @PHENOTYPICFEATURE$.	false
+d0009815659c76c084f3255f756eb9a04fff8e64	@DISEASE$ is an X-linked recessive condition characterized by skeletal myopathy, cardiomyopathy, @PHENOTYPICFEATURE$, and recurrent neutropenia, but with normal cognitive function.	false
+c9af3c880de41c2179feb757f642bc89063e5e9a	The spectrum of neurological diseases were stroke 64.9%, central nervous system infections (21.8% ), HIV related neurological diseases 3.5%, hypertensive encephalopathy (3.4%), dementia (3%), subarachnoid haemorrhage (2.2%), Guillian @DISEASE$ (1.2%), Parkinson's disease (1.1%), myasthenia gravis (1.0%), motor neurone disease and @PHENOTYPICFEATURE$ and accounted for 0.8% and 0.6% respectively.	false
+64904be0d7c059d406840bb174b745ce883dab74	Unlike autosomal dominant polycystic kidney disease (@DISEASE$), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with @PHENOTYPICFEATURE$.	false
+7cb6e17f0650f635b609a593ac10fd3987151878	Unlike @DISEASE$ (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with @PHENOTYPICFEATURE$.	false
+ae10d24df8dfea5dd596f3a7317c7929c2641fbc	Patients with @DISEASE$ also have @PHENOTYPICFEATURE$; intracranial aneurysms (IAs) are found in ?10% of asymptomatic patients during screening and in up to 25% of those with a family history of IA or subarachnoid haemorrhage.	false
+b607e4703d521bbab831cacb7772aac0eba4fe06	@PHENOTYPICFEATURE$ in patients with @DISEASE$--the influence on arteriovenous fistula creation.	false
+77e4570e3e37fb9c4243f67ceeb552236860b8f3	The genetic mutation in @DISEASE$ also causes @PHENOTYPICFEATURE$, mainly aneurysms but also medial dissection.	false
+022eb39389785a96d580ca52eb0b6bbd9ff09710	Patients with @DISEASE$ have a high prevalence of hypertension and structural @PHENOTYPICFEATURE$, such as intracranial aneurysms.	false
+9e09762b4049d35345e8afed71b99bcce979c897	Autosomal dominant polycystic kidney disease (@DISEASE$), characterized by renal cyst formation, is known to cause such @PHENOTYPICFEATURE$ as arterial dilatation and dissection.	false
+165db4d7533a2faf4cec86ceac71e143b2d5bbf7	@DISEASE$ (ADPKD), characterized by renal cyst formation, is known to cause such @PHENOTYPICFEATURE$ as arterial dilatation and dissection.	false
+a360468537fb619a7514a9639dd902d1f3902042	At birth he showed bilateral buphthalmos with aniridia and congenital @PHENOTYPICFEATURE$, agreeing with @DISEASE$.	false
+5e4a4454e7ff4d09d2a1a3b898648879763a727c	In some cases, anteroposition of the iris and lens can lead to corneolenticular contact and @PHENOTYPICFEATURE$, masquerading as @DISEASE$.	false
+18a9f639e0e022dc9ce0384c5ef8d5b0f50908c1	Congenital @PHENOTYPICFEATURE$ (@DISEASE$) combined with buphthalmos and aniridia.	false
+4c7e9b25360be0db3aee7e65953de5c0a274e716	@DISEASE$ is the most common cause of congenital @PHENOTYPICFEATURE$.	false
+620989d562c8a3db971e069019b8894510e9083b	Bilateral central @PHENOTYPICFEATURE$ with iridocorneal strands indicated @DISEASE$.	false
+351f6192c79bdc2514768fea8de1c78e4cc9f146	She also had bilateral posterior embryotoxon, left @PHENOTYPICFEATURE$ (@DISEASE$), and cutis aplasia of the left scalp.	false
+106249223332f7b84c6d267e1ecf971f581707ca	A third of the animals showed @DISEASE$ including @PHENOTYPICFEATURE$ and iridocorneal adhesions.	false
+d0668d4a8af380ff927b5a475569b50d6baa3519	A report is given on two sisters with arhinia, @PHENOTYPICFEATURE$, @DISEASE$ and deformities of the maxilla.	false
+64609024423e688efc18bacbe0410da08357477b	An infant born with bilateral @PHENOTYPICFEATURE$ diagnosed clinically as congenital anterior staphyloma and @DISEASE$ was confirmed histopathologically.	false
+531627a57bc8e1e24adf8c353ed7c7ff647db68a	Incidence of @DISEASE$ and congenital @PHENOTYPICFEATURE$ interfering with vision in the United States.	false
+c4b624da7bfe544f8bb61093de38644cb1defeaa	Acute tumor lysis syndrome (ATLS) is an entity consisting of combinations of hyperuricemia, lactic acidosis, hyperkalemia, @PHENOTYPICFEATURE$, and hypocalcemia and occurring generally in aggressive, rapidly proliferating @DISEASE$ with high tumor burdens.	false
+53fd3b8f8ef6ce1c433f8e8a39ec9780817e3bb4	Acute tumor lysis syndrome (ATLS) is an entity consisting of combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia, and @PHENOTYPICFEATURE$ and occurring generally in aggressive, rapidly proliferating @DISEASE$ with high tumor burdens.	false
+d157bc5ea9377c2159edf0fa3ed464d3c6c01ad9	Fifteen patients died, 4 from infection, 7 from relapse of leukemia, 2 from @PHENOTYPICFEATURE$, one from severe aGVHD, and one from @DISEASE$.	false
+ed22f43e585312102a5052120bf781ca108aa001	In 1996, however, her @DISEASE$ underwent a more malignant course, with renal and @PHENOTYPICFEATURE$ and increasing articular problems, requiring treatment with melphalan and prednisolone, following the protocol for myelomatosis.	false
+dc059d07e6192270cc21dd5482a6dccd781c0d35	Complications such as graft dysfunction and bronchiolitis obliterans occur similarly in children as in adults, but others such as posttransplant @DISEASE$, @PHENOTYPICFEATURE$, respiratory tract infections, and medical nonadherence appear to be more common in pediatric lung transplant recipients.	false
+15af4c404fbe3866cef5e86b0993634c51defce8	Of these nine children, two had @DISEASE$; one had immunoglobulin subclass deficiency; one had severe congenital heart disease, with @PHENOTYPICFEATURE$; two had cerebrospinal fluid leaks; and two were premature neonates whose mothers had prolonged rupture of amniotic membranes.	false
+36da4917e256ad9c46c5f6cabcc2b2af5f74e58f	A 6-week-old girl presenting with severe weakness, hypotonia, gastroesophageal reflux, and microcephaly as well as dysmorphic features including @PHENOTYPICFEATURE$ and high arched palate was also found to have @DISEASE$.	false
+12eb77bd8e827481c0a5b47201faaf7f53478a7d	Available neuroimages (CT/MRI) showed either normal findings (N.=6) or white matter abnormalities (N.=6), cerebral and/or cerebellar cortical atrophy (N.=11), @PHENOTYPICFEATURE$ (N.=1), corpus callosum hypoplasia (N.=2), @DISEASE$ (N.=1), gliosis in trigone area (N.=4).	false
+7e69a497c3644b36858a4d36ea474cc94ba4051a	A brain MRI obtained after birth revealed type II lissencephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c30e1231ee56f1bcde23cbb55a7a9ebc6feff6ba	Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain @PHENOTYPICFEATURE$ syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of @DISEASE$.	false
+c0bf7ac5d761ee17e003887d6b9a19f62014c5e9	@DISEASE$ is a rare syndrome including Potter sequence, @PHENOTYPICFEATURE$, heart defects, cleft palate with other oropharyngeal anomalies.	false
+f32812985c7f37dd50c394c22b0ef4578dfd0703	Toxicity was manifested by arterial hypotension, @PHENOTYPICFEATURE$, and @DISEASE$ hypoxemia.	false
+96b8e97c4842b718529c82d629d26fbc7212cdf4	Toxicity was manifested by @DISEASE$ hypotension, @PHENOTYPICFEATURE$, and arterial hypoxemia.	false
+c86341648d329e696890f3a7f436f8b872f5aa8b	During hospitalization his condition was complicated by severe bilateral @PHENOTYPICFEATURE$ and left lower limb @DISEASE$ acute thrombosis.	false
+df6b6e6acb8e7e82b461d1d0a4f34a53646bdbc6	The third boy presented acute symptoms consisting of @PHENOTYPICFEATURE$, progressive left-sided hemiparesis, and also vertebral and @DISEASE$ malformations.	false
+2558d0ab702fd4ddf8a333c4af9c50559cb7bf1f	Obstructive @PHENOTYPICFEATURE$-hypopnoea syndrome and @DISEASE$ hypertension.	false
+54e17a96ac57516164325af62db9bd9136c1c6d6	Strong interplay between metabolic syndrome, obstructive @PHENOTYPICFEATURE$, oxidative stress and @DISEASE$ dysfunction.	false
+104e0d468cfd5be07d74ec63f5563900b76ecb9d	[Internal frontal @PHENOTYPICFEATURE$, @DISEASE$ hypertension & pseudobulbar syndrome with cerebral atrophy].	false
+ca70139d8914e3ba797c84de7d90049a3927bea7	During deep sedation with etomidate, episodes of @PHENOTYPICFEATURE$, hypoxia or @DISEASE$ hypotension requiring therapeutic intervention did not occur.	false
+3b0b5a3c27a915905e4aa1397fe6eb6fa338dfd3	The presence of @DISEASE$ hypertension, @PHENOTYPICFEATURE$ or hypercholesterolaemia is associated with a poorer renal function.	false
+90cc26b6edc082541ccb8becf1966c8a2da809e9	@PHENOTYPICFEATURE$ and @DISEASE$ stiffness are associated with increased cardiovascular risk.	false
+71389082ca0f669663c243b9f562cc1273648805	Clinical signs of @PHENOTYPICFEATURE$ associated with moderate @DISEASE$ hypoxemia subsequently developed.	false
+bf921e000a1dfd0b8fb7b40e7900583dc72d025e	@DISEASE$ is a heterogeneous autosomal recessive disorder characterized by hearing and visual @PHENOTYPICFEATURE$.	false
+49ddf6aa34a258233de01359720ad8d365843a23	@DISEASE$ (USH) is an autosomal recessive disorder characterized by a dual @PHENOTYPICFEATURE$ affecting hearing and vision.	false
+1c27afd2d26bb57c68807d7374cc99f085b3ba86	Individuals with @DISEASE$ may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and @PHENOTYPICFEATURE$ or hemorrhage.	false
+388050d77da0d204f39a2fb4503009d72d193e38	The incidence of @DISEASE$ was 12.9 per cent, while cardiac complications (myocardial infarction, congestive heart failure, and @PHENOTYPICFEATURE$) were present in 9.8 per cent.	false
+a874d878798bd8f1aa7f5672024b1c4263353734	In all, 171 patients with breast cancer who had HER2 FISH that had increased mean CEP17 copy numbers (> 2.6) were selected for additional chromosome 17 studies that used probes for @DISEASE$ (SMS), retinoic acid receptor alpha (RARA), and @PHENOTYPICFEATURE$ protein p53 (TP53) genes.	false
+5e4c3ed4cbbe4e9cb4769ee8111050870c488d82	Furthermore, the map will contribute to positional cloning of aberrant genes responsible for inherited diseases such as Miller-Dieker syndrome (MDS), @DISEASE$ (SMS), and familial early-onset breast cancer, as well as putative @PHENOTYPICFEATURE$ suppressor genes on this chromosome.	false
+2edadaa9c9768d6eedaedd2b04ebaf8173f1c68e	Event-related @DISEASE$ abnormalities have been shown in the vicinity of @PHENOTYPICFEATURE$ foci in epilepsy.	false
+f93694cf2878bb8afb4e60a9577a3ec782a00065	Later treatments lead to decreased response to BZD, longer @PHENOTYPICFEATURE$, greater need of continuous infusions, @DISEASE$ brain injury and increased in-hospital mortality.	false
+70deaeb76822e9a3f2eac5bee8d796f14cd5f2e8	"Multicystic dysplastic kidney (@DISEASE$ type II syndrome) and @PHENOTYPICFEATURE$ (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero".	false
+02812d12151152399653f8d16d2c32cf57cf2203	Visual evoked @DISEASE$ abnormalities in Charcot-Marie-Tooth disease and comparison with Friedreich's @PHENOTYPICFEATURE$.	false
+0fb6c8c690871cf0b4e7870e1d8ad1b9f658b216	Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral @PHENOTYPICFEATURE$, and @DISEASE$ eye involvement.	false
+9f34cb57a2e526a5544ec5635ba5895fcae0535d	Occurrence of each of seven @DISEASE$ vital sign abnormalities (threat to airway, abnormal respiratory rate, oxygen saturation, systolic blood pressure, heart rate, low Glasgow Coma Scale and @PHENOTYPICFEATURE$) was collected and added up to generate the vital sign score (VSS).	false
+94bcff48706be21e4f7d459e63e1c80d649c214b	@DISEASE$ @PHENOTYPICFEATURE$ symptoms were common in the outpatient cohort irrespective of CrAg-status, with only fever and altered mental status statistically more common in CrAg-positive compared to CrAg-negative persons (P<0.05),	false
+d3007a21d1ee7025c01601c60f25edf783d8f613	To elucidate the presence and @DISEASE$ involvement of brain inflammation and cell death in neurological morbidity and intractable @PHENOTYPICFEATURE$ in childhood epilepsy, we quantified cell death, astrocyte proliferation, microglial activation and cytokine release in brain tissue from patients who underwent epilepsy surgery.	false
+ec2c40a4680f9b6d91a60a687c603fe4feee5814	Fatty acid oxidation defects encompass a spectrum of clinical disorders, including recurrent hypoglycemic, hypoketotic @PHENOTYPICFEATURE$ or Reye-like syndrome in infancy with secondary seizures and @DISEASE$ developmental delay, progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, and progressive cardiomyopathy.	false
+2f58245cd84bd78a75ab480410808474de0df090	Fatty acid oxidation defects encompass a spectrum of clinical disorders, including recurrent hypoglycemic, hypoketotic encephalopathy or Reye-like syndrome in infancy with secondary @PHENOTYPICFEATURE$ and @DISEASE$ developmental delay, progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, and progressive cardiomyopathy.	false
+df6a37685827be204f3009fbe404da901acc3d1c	Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include @DISEASE$, @PHENOTYPICFEATURE$, obesity, developmental delay, and renal defects.	false
+c5d6cf8ecdeaf2dbc91666dc58ff8ca5ef04563f	To determine the nature, extent, and severity of renal involvement in Laurence-Moon-Biedl syndrome (obesity, mental retardation, @PHENOTYPICFEATURE$, hypogonadism, and @DISEASE$), we evaluated 20 of 30 patients with the disorder identified from ophthalmologic records in Newfoundland.	false
+d911d593c25f05dd8be4c13b2292dedec8fee6ea	The number of patients that could benefit from bioenergetic modulation therapy (BIOMET) is therefore very important and includes individuals with pathologies as diverse as mitochondrial diseases, acute coronary syndrome, chronic kidney disease, @PHENOTYPICFEATURE$ or @DISEASE$ cancer.	false
+7d611905b7a87e3902a0763bcb7acf39b9b7461b	The most common possibly GMCI-related adverse events included Common Terminology Criteria for Adverse @DISEASE$ grade 1-2 fever, fatigue, and nausea/@PHENOTYPICFEATURE$.	false
+a6ec74ee7b5dcdabf8796faa193976a405cacd8c	MPS IIIA is an inherited neurodegenerative lysosomal storage disorder characterized by @PHENOTYPICFEATURE$, sleep-wake cycle disturbance, speech difficulties, @DISEASE$ mental regression and early death.	false
+31959464a5ee73f88db5e7a643db62d6ee3cf570	Parkinson's Disease (PD) is classified as a motor disorder, but most patients develop @PHENOTYPICFEATURE$, and @DISEASE$ dementia (PDD).	false
+23a3c9d510b31abb120e13ed6017e497075ff0b4	Mutations inactivating the cilia-localized Pkd1 protein result in autosomal dominant polycystic kidney disease (ADPKD), a serious inherited syndrome affecting ? 1 in 500 people, in which accumulation of @PHENOTYPICFEATURE$ @DISEASE$ destroys kidney function.	false
+563b207825fe73b700fe79b6d94242c03ef3ba7c	Endoscopy is currently not standardly recommended to evaluate diarrhea, @PHENOTYPICFEATURE$, or abdominal pain associated with @DISEASE$ due to potential risks, but may be considered for endoscopic therapy for active, life-threatening, GI hemorrhage.	false
+17200a06e946654dbf67cefe06262fc9b1280596	Instability in carotid vulnerable plaque can generate cerebral micro-emboli, which may be related to both stroke and @DISEASE$ @PHENOTYPICFEATURE$.	false
+bf2afdf5a9c1407bbc8f7af96f1a98ef7a9db921	Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder resulting in large @PHENOTYPICFEATURE$ and @DISEASE$ kidney failure.	false
+26d0b8e14aac45ba29f5e1f769cfcf25497decbc	Supplementary motor area (@DISEASE$) syndrome occurs after surgery involving the SMA and is characterized by contralateral @PHENOTYPICFEATURE$ with or without speech impairment (dependent on involvement of the dominant SMA), which is transient and characteristically resolves over the course of weeks to months.	false
+2a45a934be345dfd242d9ec6e3ef1978d9d25001	To characterize the development of @DISEASE$ syndrome and to analyze @PHENOTYPICFEATURE$ outcomes after surgery in the medial frontal lobe for medically intractable epilepsy.	false
+acffe3a334caf40dd43e40d849c21a6a9752fc45	Children with @DISEASE$ are prone to develop spontaneous @PHENOTYPICFEATURE$ especially if they are not fed both frequently and regularly.	false
+3d066553c5a59a308daed37b4724ef5f2983d559	Although most cases of @DISEASE$ are sporadic, at least 25 families have been reported with familial RSS and inheritance patterns of RSS consistent with an X-linked dominant @PHENOTYPICFEATURE$.	false
+89ee9ec7b43ca74e28f71d4ac8905714b1976ede	It is a primary, @DISEASE$, which is commonly associated with @PHENOTYPICFEATURE$, diet rich in carbohydrates, decreased physical activity and excessive use of coffee and some drugs.	false
+30080919a6e2ae57ffc41b09be2d6591793ec345	In addition to BTHS, CL is linked to other cardiovascular diseases (CVDs), including cardiomyopathy, atherosclerosis, myocardial ischemia-reperfusion injury, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+39c81ab8f4751d632b50403e2d220018e7e5e67c	@PHENOTYPICFEATURE$ and @DISEASE$-like disorders.	false
+94d8b611ee4c225b5f75afddf67a0ae4e215c3f9	Scleroderma @PHENOTYPICFEATURE$ renal crisis and the changing pattern of mortality in @DISEASE$ (scleroderma)	false
+92f2bc992137aa00cf8b9bc81dc24b02d8bdac86	@PHENOTYPICFEATURE$ hypertensive renal crisis and the changing pattern of mortality in @DISEASE$ (scleroderma)	false
+e30a094f2f1d82969f584f5f821e1f43569f366c	An epigastric aura preceded @PHENOTYPICFEATURE$ in five patients with @DISEASE$ (31.3%) and none with ETS (P = 0.0135, Fisher's exact test), while an aura with experiential content was recalled by nine patients with ETS (47.4%) and none with HTS (P = 0.0015), Fisher's exact test).	false
+3077b77bfed91f25788392e070aa313e69b5f567	An epigastric aura preceded @PHENOTYPICFEATURE$ in five patients with HTS (31.3%) and none with ETS (P = 0.0135, Fisher's exact test), while an aura with experiential content was recalled by nine patients with ETS (47.4%) and none with @DISEASE$ (P = 0.0015), Fisher's exact test).	false
+c95744afce4a3738d24215b5419bb71a36a0ad88	Pharmacological high-throughput screening (@DISEASE$) represents a powerful strategy for drug discovery in genetic diseases, particularly when the full spectrum of pathological dysfunctions remains unclear, such as in Friedreich @PHENOTYPICFEATURE$ (FRDA).	false
+5848c5011ad27e26251d668ebd360bf4ac1cdee5	Two groups were differentiated for statistical analysis: 16 patients had hippocampal temporal lobe @PHENOTYPICFEATURE$ (@DISEASE$) and 19 patients had extrahippocampal temporal lobe seizures (ETS) associated with a small tumour of the lateral or inferior temporal cortex.	false
+b97026bda206e8dc86ee80740cf3dda3bdc0c33c	Two groups were differentiated for statistical analysis: 16 patients had hippocampal temporal lobe seizures (@DISEASE$) and 19 patients had extrahippocampal temporal lobe @PHENOTYPICFEATURE$ (ETS) associated with a small tumour of the lateral or inferior temporal cortex.	false
+a81e56f42d4928f49be48da5d6e220091464a4a9	To comparatively evaluate hypertonic sodium (@DISEASE$) and mannitol in patients following acute traumatic brain injury (TBI) on the outcomes of all-cause mortality, neurological @PHENOTYPICFEATURE$, intracranial pressure (ICP) change from baseline, ICP treatment failure, and serious adverse events.	false
+5977ff40844efba9db160a82a9b5ed6dc3ef91ff	Abnormal findings in finger-to-nose (FN), heel-to-shin (@DISEASE$), and rapid alternative movement (RAM) tests were significantly higher in ACI or ACI/SOL group, while gait disturbance, tandem @PHENOTYPICFEATURE$, and Romberg's test were not.	false
+f891766c516e98315aa349cb2666c140116140f4	Abnormal findings in finger-to-nose (FN), heel-to-shin (@DISEASE$), and rapid alternative movement (RAM) tests were significantly higher in ACI or ACI/SOL group, while @PHENOTYPICFEATURE$, tandem gait abnormality, and Romberg's test were not.	false
+c5eaadc8f5bb5fb13584f2579709d84fa6d39b37	[Features of the development and course of acute @PHENOTYPICFEATURE$ under @DISEASE$-and hypothermic conditions and ether anesthesia].	false
+5670d153d74487567d6480866017a5b8c83f94ba	A?41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, @DISEASE$-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and @PHENOTYPICFEATURE$ at age 32?years.	false
+a1d0f807c6cb7217ef8784d7a3b65bd0efcbda9e	Further work-up showed @PHENOTYPICFEATURE$ and hyperphosphaturia, hypouricemia and hyperuricosuria, and @DISEASE$ aminoaciduria, consistent with Fanconi syndrome.	false
+3fc0ba81adfd661985f7bb99d95d2d7ab6585323	We report a case of 39-year-old male with combined deficiency of natural anticoagulants (protein C, S and anti thrombin) along with @DISEASE$ homocystenemia and factor V Leiden mutation, presenting with life threatening bilateral @PHENOTYPICFEATURE$.	false
+8eae78f6cf27929aca8f09f281ddfde34915c5c4	A regional technique for the study of curare sensitivity has been applied to patients with Duchenne type @PHENOTYPICFEATURE$, myotonic disorders, certain lower motor neurone disorders, to patients with weakness in the arm after hemiplegia, to patients with @DISEASE$-reflexia and hypertonia without weakness, and to Parkinsonism.	false
+f4345f29d12c3e63869f49ddb0e5755796197492	Of those with no local predisposing factors, 3 patients had antiphospholipid antibodies, 3 had raised fibrinogen levels, 4 had @DISEASE$-@PHENOTYPICFEATURE$ and 1 was heterozygous for the Leiden mutation.	false
+dccec7c2875de87e68684b0f324fd619a27206e4	We have identified 14 common and clinically relevant conditions of contemporary nature that are related to the kidney bone disease, including calcitriol (active vitamin D) deficiency, 25(OH)-vitamin D deficiency, biochemical hyperparathyroidism, relatively low parathyroid hormone (PTH) level, increased serum alkaline phosphatase (hyperphosphatasemia), elevated fibroblast growth factor (FGF)-23, high turnover bone disease, adynamic bone disease, uremic osteoporosis, vascular calcification, hyper- and @PHENOTYPICFEATURE$, and @DISEASE$- and hypocalcemia.	false
+30684ac2f8a42faa4d2d39f05283d77079b78563	[Episodic adynamia (@DISEASE$ Gamstorp), a familial hyperkalemic @PHENOTYPICFEATURE$, Clinical and experimental investigation].	false
+75c8c4e25260567ae2bf458bf4e5595bb482894d	In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with @DISEASE$, mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight @PHENOTYPICFEATURE$.	false
+e22fc5ba4a78235f9394edd135701a5256fdfb2b	Severe @DISEASE$ with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe @PHENOTYPICFEATURE$.	false
+5b8e0bd6489f037b498e8ab319fc3324b31bd749	Nevertheless, a spectrum of @PHENOTYPICFEATURE$ has been described in association with congenital hypothalamic "hamartoblastoma" and a constellation of variable visceral malformations under the eponym of "Pallister-Hall syndrome" (@DISEASE$).	false
+28da72434c1895d76f472c045af09cee1802eb61	Nevertheless, a spectrum of @PHENOTYPICFEATURE$ has been described in association with congenital hypothalamic "hamartoblastoma" and a constellation of variable visceral malformations under the eponym of "@DISEASE$" (PHS).	false
+642a8eee30991784789a2051debe3962c2fc84b5	BACKGROUND This study evaluated the hypothesis that the 1999 recommendation by the American Academy of Pediatrics (AAP) and US Public Health Service (@DISEASE$) to reduce exposure to mercury (Hg) from Thimerosal in US vaccines would be associated with a reduction in the long-term risk of being diagnosed with @PHENOTYPICFEATURE$.	false
+92c290c19dbb75508ef02af78724e08ee61d7d7b	Cross-sectional study of patients utilizing the ODYSA instrument, evaluating the probability of 12 functional/autonomic diagnoses, CVS, migraine, orthostatic intolerance (OI), reflex syncope, interstitial cystitis, Raynaud's syndrome, @DISEASE$ (CRPS), irritable bowel syndrome, functional dyspepsia, functional @PHENOTYPICFEATURE$, fibromyalgia, and chronic fatigue syndrome.	false
+cc7880fd3fefd17d3a831ba71d4d5064d7e03aa3	Conditions commonly treated in the pediatric pain clinic, including headache, @PHENOTYPICFEATURE$, fibromyalgia, juvenile arthritis, @DISEASE$, cancer pain, as well as perioperative pain studies are reviewed and discussed.	false
+006423f79703c20de98b43ea72ae643099120e86	We here screened a series of 297 bladder @PHENOTYPICFEATURE$ and found three FGFR3 somatic mutations (G380/382R; K650/652M and K650/652T) that were not previously identified in carcinomas or @DISEASE$.	false
+852ec7197f5d08be9a94d89cc6fb36e0409256e5	Neuropathological examination of a 3-day-old female with @DISEASE$ revealed abnormal sulci with polymicrogyria and neuronal heterotopia in the temporal lobes and @PHENOTYPICFEATURE$.	false
+5197d793b43e135e3c484cc25f6c600106106c87	When the results of the FGFR3 @DISEASE$ mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and @PHENOTYPICFEATURE$ grade.	false
+cbc68f994d308131d8499f4cddce0a326b906f91	When the results of the FGFR3 @DISEASE$ mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the @PHENOTYPICFEATURE$ classification and tumor grade.	false
+c31a6ccf9d773de9b1b652875bff2b938cef8068	Other features in individual cases include @PHENOTYPICFEATURE$, micrognathia, anal atresia, @DISEASE$ and sensorineural deafness.	false
+f5d44f4321707914c1218f6ef21f14eabc2c2306	@DISEASE$ (ECS) is characterized by chondrodysplasia, ectodermal dysplasia, @PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+ccf488933094226f099fa9f823998cc1773f9e9e	@DISEASE$ (EvC) is a ciliopathy with cardiac anomalies, disproportionate short stature, @PHENOTYPICFEATURE$, dystrophic nails and oral defects.	false
+a602856bdf3edfdd3d5bcb1c687127782eb708a3	@DISEASE$ comprises of a tetrad of clinical manifestations of chondrodysplasia, @PHENOTYPICFEATURE$, ectodermal dysplasia, and cardiac defects.	false
+4e3c654719a4e57eebcbf631c40507ae7b8a2a03	The most common syndrome associated with type A ulnar @PHENOTYPICFEATURE$ was @DISEASE$ (n = 3).	false
+0c8364e36874b7e2b94b1f0c5e4438f203e2f8c6	@DISEASE$ in a fetus with rhizomelia and @PHENOTYPICFEATURE$.	false
+665d5dc696ac2ce976070c4ec016465c7d226892	@DISEASE$ (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, @PHENOTYPICFEATURE$, and congenital heart disease.	false
+4d80b4271383e7830b7d2afe46713c0bc168c56d	@DISEASE$ (chondroectodermal dysplasia) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with @PHENOTYPICFEATURE$, and heart defects.	false
+dc2d2e48f9a988b79d416c53ad95c6f33260c773	Ellis-van Creveld syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by a narrow thorax with short ribs, short extremities with @PHENOTYPICFEATURE$, and heart defects.	false
+04dd6fc06003b5c614b0b62c993d7bf2ea22f524	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+98a76c11412d350e98bb86fa9cdb147ed171fbbc	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with @PHENOTYPICFEATURE$ without other skeletal abnormalities but with visceral malformations.	false
+a575a195e70caaa716888f1de26a40d42f0aad12	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with @PHENOTYPICFEATURE$ without other skeletal abnormalities but with visceral malformations.	false
+3e09c747179ca56d408972c4c2db6a41b6b8b7f3	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+e92db7cc9a2f0e09c2165214599c164a37f53cf8	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (@DISEASE$), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+93dbb1695d57c6a09a6b334268a35750d2947f28	The histopathology of growth cartilage of long bones was studied in two cases of @DISEASE$ (Ellis-Van Creveld syndrome), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+cd731e6f1abb7dd51bc5df672ce6308bf1cfd5b2	@DISEASE$ is a rare autosomal recessive disorder characterized by short extremities, short stature, @PHENOTYPICFEATURE$, and nail hypoplasia.	false
+f3b3b77f369764f4f5a3ba1bbe51d9ceaccf7b33	Correction of @PHENOTYPICFEATURE$ in patients with @DISEASE$: a report of two cases.	false
+7bc5e1aa1dbb8a575c2eba8c9c6b35d8728d68ca	@DISEASE$ patients seem to exhibit @PHENOTYPICFEATURE$, especially delayed bedtimes that reflect disrupted circadian rhythmicity.	false
+d0fcf68e8173caad47463b11129cb37c21dbc477	The results indicated that the majority of the OCD sample suffered from sleep disturbances and that these @PHENOTYPICFEATURE$ were significantly reduced following adequate treatment of @DISEASE$ without specific sleep interventions.	false
+c2ddf31c5dfe03f0893c0e744d92a96c92e8c5e3	The results indicated that the majority of the @DISEASE$ sample suffered from sleep disturbances and that these @PHENOTYPICFEATURE$ were significantly reduced following adequate treatment of OCD without specific sleep interventions.	false
+cb75062add4799021b831e31b5f4424576c16e26	Therefore, fluvoxamine possesses less side effects such as dry mouse, disuria, dizziness, orthostatic hypotension and @PHENOTYPICFEATURE$, etc.; and it is useful for elderly patients and long-term treatments for depression and @DISEASE$.	false
+f01474d00d2edf1ee9f48b810f4e4331bbc5eacd	Although depression is often highly comorbid with both @DISEASE$ and @PHENOTYPICFEATURE$, depressive symptoms did not explain the OCS-sleep relationship in either study, suggesting a unique association between obsessions and insomnia.	false
+07044ed885eea10e2e2ce29aa4cc2ca4ea1769de	Severe @DISEASE$ symptoms were consistently associated with greater @PHENOTYPICFEATURE$.	false
+553e98bda16d4d4516655847bec7c90ddf7f1cd0	@PHENOTYPICFEATURE$ are common among youth with anxiety disorders, yet objective assessments of sleep in children with obsessive compulsive disorder (@DISEASE$) have been the focus of scant research.	false
+3a3cf3aa9898b7a8500632d18eb0ef8e78898adc	@PHENOTYPICFEATURE$, including delayed sleep phase disorder (DSPD) and disorders of sleep initiation and maintenance (DIMS), have repeatedly been identified in adult obsessive-compulsive disorder (@DISEASE$).	false
+6c51cd972dd4a8e762e77811247a330d3088328a	To examine the feasibility, acceptability and preliminary efficacy of family-based exposure/response prevention therapy (E/RP) versus treatment as usual (TAU) in a cohort of very young children with early @PHENOTYPICFEATURE$ obsessive-compulsive disorder (@DISEASE$).	false
+551acb69963fdce8b09180773ebc22974666f51f	Results @PHENOTYPICFEATURE$ were more prevalent in @DISEASE$ patients than healthy subjects.	false
+e25f820da933afb3768f479d3151829e2bd657f8	Indeed, the authors believe that agomelatine could be a valid alternative drug in treatment-resistant @DISEASE$ patients, particularly those suffering with bipolar spectrum comorbidity and related @PHENOTYPICFEATURE$.	false
+9f9bd14b8455313903d1cdb9ef2edd6a4cd7960d	Association of @PHENOTYPICFEATURE$, @DISEASE$, and reduced esterase D activity.	false
+14f3bbd59904a899061768c10431079fcf51f421	The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and @DISEASE$, and neurodevelopmental disorders in the @PHENOTYPICFEATURE$ spectrum and schizophrenia.	false
+0c2ecdcb84db77d4684bf45c488f5bf2a561bf03	Indications included common clinical reasons for ordering an ambulatory ECG and additional specific "anesthesiologic" indications: Syncopes, dizziness, or other manifestations possibly related to @PHENOTYPICFEATURE$; Rhythm disturbances under antiarrhythmic drug therapy; Suspected paroxysms of supraventricular tachycardia; Q-T @DISEASE$- on-T phenomenon; Insignificant rhythm disturbances in patients with significant cardiac disease such as cardiomyopathy, aortic stenosis, mitral valve prolapse; Rhythm disturbances in patients with poor general medical status; Recent myocarditis with arrhythmias; Previous known or suspected intraoperative cardiac complications; Suspected sick sinus syndrome.	false
+9d14430d04775bda35e4b147c79e20d7a45e7d60	This study enrolled seven Chinese patients with LIG4 deficiency who presented with @DISEASE$, @PHENOTYPICFEATURE$, and growth retardation.	false
+d8540cd17413ca460d2d07d03b7b6dfbb00c4a65	The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) @PHENOTYPICFEATURE$, callosal agenesis, cataracts, cardiomyopathy, hypopigmentation, and @DISEASE$.	false
+71c43ca76e97a84aaac75d496305267f37207638	Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, @DISEASE$, @PHENOTYPICFEATURE$, profound developmental delay, and acquired microcephaly.	false
+cc979e55d9a19b114f9d6b10402bfefe3cb900c4	Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by @PHENOTYPICFEATURE$ at birth, @DISEASE$ and predisposition to malignancies.	false
+4b017d0b19c1af32af42096ff0b77d4875b4a9a9	Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, and a high incidence of lymphoid tumor.	false
+7257d4ccbdc3d420cd1c285bf672386a8d1d8251	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with @PHENOTYPICFEATURE$, cerebellar hypoplasia, and growth retardation.	false
+96608565012de822ad6fa4de67063d4d8ac5f565	We are reporting the first family from the Arabian Gulf with three siblings presenting with @DISEASE$ (CID), @PHENOTYPICFEATURE$, and growth retardation due to a novel NHEJ1 splice site mutation, in addition to a review of the previously published literature on this subject.	false
+4f1930ea2e2b9551b1c88831569f35fd90a92db7	Clinical manifestations include @PHENOTYPICFEATURE$, growth retardation, @DISEASE$, and a strong predisposition to develop (mainly lymphatic) malignancies.	false
+7483e1e5caea40defb7ab91d113cd03faf42f28a	We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, @PHENOTYPICFEATURE$, short stature, @DISEASE$ and severe vesicoureteral reflux.	false
+8ff798f8d865c1e8d45b4886a8ac3693cc5740ff	@DISEASE$ with normal immunoglobulins (Nezelof syndrome) is a disease of primary immunodeficiency characterized by recurrent infections, @PHENOTYPICFEATURE$, lymphopenia, diminished lymphoid tissue, abnormal structure  or agenesis of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody synthesis.	false
+75ca00be2c42f172a2a6b864c9d5f4572dbf89dd	Genotype-phenotype correlations for @PHENOTYPICFEATURE$ in @DISEASE$.	false
+57073164fa195e6c237c8106060d1b30b7b09964	A variety of ocular abnormalities are present in @DISEASE$, including @PHENOTYPICFEATURE$, retinal hamartomas, and ocular motor deficits.	false
+9485aa0b4b8668c1c8569ea2adc6db3faf95e0b0	The most common ocular abnormalities were posterior subcapsular or capsular, cortical, or mixed @PHENOTYPICFEATURE$ in 33 (67%) of 49 patients with @DISEASE$ and retinal hamartomas in 11 (22%).	false
+63b37a80db4403397f80d6cae0f60d13cb273822	@DISEASE$ in an infant presenting with @PHENOTYPICFEATURE$ confirmed by genetic mutation analysis.	false
+e2680bee19c9c6f297af7f49d7681c7f27a6f148	In addition, the association of peripheral cortical @PHENOTYPICFEATURE$ with @DISEASE$ was found to be statistically significant.	false
+720763e3f337135a6c75d5561c106fb621e225a9	@DISEASE$: a case of @PHENOTYPICFEATURE$.	false
+7624b24f8321bab67668c2e5e9f86f21ae73e077	To investigate genotype-phenotype correlations demonstrated for @DISEASE$-associated nervous system tumors, @PHENOTYPICFEATURE$, and retinal lesions.	false
+29220bd6562013412020b6127a597ab5ee5a06f0	@DISEASE$ (NF2) features bilateral vestibular schwannomas, other benign neural tumors, and @PHENOTYPICFEATURE$.	false
+a5e3737a26c4598d97118e12a0bd6aafd6fb3141	The association of posterior capsular @PHENOTYPICFEATURE$ with bilateral acoustic neuromas in patients with @DISEASE$.	false
+1578bd620e51c918d4872ee58ae6911edcbc31b0	@DISEASE$ (NF2) is a complex nervous system disorder characterized by the development of schwannomas (especially vestibular), meningiomas, ependymomas and juvenile @PHENOTYPICFEATURE$.	false
+c58a852652214f741e9a01b90c39d6932d19a814	Five patients (3 women & 2 men; mean age: 46 years; range: 28-81 years) had primary cardiac sarcomas (6.7% of primary cardiac tumors) and 4 had cardiac metastasis from @PHENOTYPICFEATURE$ (1 case each of osteosarcoma, myxoid liposarcoma, @DISEASE$ and pleomorphic spindle cell sarcoma).	false
+58ac0340b9c3445111ee04444c62e75f7db917be	The DNA-binding factor TFE3 is closely related to @PHENOTYPICFEATURE$-associated transcription factor (MiTF) and is over-expressed in @DISEASE$ (ASPS) and select renal cell carcinomas.	false
+ec08c35502823c90398849fd0fe11d7595cad987	@DISEASE$ results in severe @PHENOTYPICFEATURE$, generalized joint deformities, and early osteoarthritis.	false
+5f7dfa75fe78c0e970b5513f8d07aba2a3d5e11a	@DISEASE$ (DTD) is a recessively inherited form of osteochondrodysplasia, presenting with @PHENOTYPICFEATURE$ and multiple orthopedic problems.	false
+4ef5643e50621f4ab76c0b2fa8df2f791a92d8e6	Using exome sequencing and linkage analysis in a three-generation family with a unique dominant @DISEASE$-like syndrome with @PHENOTYPICFEATURE$, we identified a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV2.2.	false
+3a17b9a61d547b830ea6700e8869c9dcbc3ddda3	Functional changes could be consistent with a gain-of-function causing the observed hyperexcitability characteristic of this unique @DISEASE$-like syndrome associated with @PHENOTYPICFEATURE$.	false
+4100f302aaa25537976f8e75dbc129ca1827ef97	Early treatment of @DISEASE$ and resection of @PHENOTYPICFEATURE$, when possible, may offer successful treatment of patients with both benign brain tumors and West syndrome.	false
+4f4b0331fbccbbe5691621261961f57a05ed66a1	Early treatment of West syndrome and resection of @PHENOTYPICFEATURE$, when possible, may offer successful treatment of patients with both benign brain tumors and @DISEASE$.	false
+0bce5d4aabaa97787c0ba481b444b746f58e5c14	We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral @PHENOTYPICFEATURE$, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (@DISEASE$), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space.	false
+b48de5d7889edd667dd18d57036f3b9e9b3d0d3b	We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (@DISEASE$), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral @PHENOTYPICFEATURE$ lateral ventricles, and extra-axial post-cerebellar space.	false
+6095ddeb61bdc5f4b0c47229e838c43d72b9ab6d	Intracranial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+163bf15e1f938e472145b49827f33b1c67d941da	Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b00ba2b5b938821848fc8bf783384a43018d7a75	Fibroblasts derived from patients with diseases affecting DNA repair processes, such as Xeroderma Pigmentosum (classical and variant), Fanconi's anemia, Bloom's syndrome, @PHENOTYPICFEATURE$ Telangiectasica, @DISEASE$ and Werner's syndrome, were assayed for the three DNA polymerases.	false
+519a2a3165eb60dd69664b8879a8c3e9560cbbda	In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nephroma, nodular dysplasia of the thyroid gland, medulloepithelioma of the iris, embryonal rhabdomyosarcoma botryoid type, nasal epithelial @PHENOTYPICFEATURE$, pituitary blastoma, and/or @DISEASE$.	false
+75d30e27bd3cf0a1d2a2f710b1846b256f4e9726	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (@PHENOTYPICFEATURE$, polydactyly, syndactyly).	false
+270fc6ac72d81a32b59853a283f799504f63e531	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, @PHENOTYPICFEATURE$).	false
+3e758b416f80c26f3531550e1191d9855aaab750	Making the movement @PHENOTYPICFEATURE$ visible caused a relative decrease in the popularity of the @DISEASE$ patients as opposed to an increase in the popularity of the control patients.	false
+0d74995654b3cde7f01238f421e2ccbdf78ff7e5	@DISEASE$ I syndrome and @PHENOTYPICFEATURE$.	false
+633fa2208ddc01761c21b625065c041158c9aadf	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, @PHENOTYPICFEATURE$, polydactyly and skeletal dysplasia.	false
+8832fe4e62898517cd068158d387f909bc23c750	Strikingly, all these patients were @PHENOTYPICFEATURE$, which is otherwise a rare finding in @DISEASE$.	false
+97bfc154b2efc2426504af1e15bd38af19028899	Spinal cord epidural stimulation (@DISEASE$) represents a form of neuromodulation for the management of @PHENOTYPICFEATURE$ and pain.	false
+73d265d4e23c6c966a92eef56c761708cba126ba	Spinal cord stimulation (@DISEASE$), a once promising therapy for @PHENOTYPICFEATURE$, has largely been relegated to permanent experimental status.	false
+75c1263fd1a811923d98768f5bf0ff1daf897ee1	Correlations with age, body mass index (BMI), tobacco and alcohol usage, patient satisfaction with @DISEASE$, @PHENOTYPICFEATURE$ status, and opioid usage were assessed.	false
+f151ad833f4c4ddd7fd9936498733ba90ad6340c	Application of @DISEASE$ for movement disorders and @PHENOTYPICFEATURE$.	false
+1160edcc8ca32f150295df66fe86f55e4962c3b9	In this study, we identified microdeletions in 4q13.2 and 7p21.1 in a patient with @DISEASE$ and severe neurological features including @PHENOTYPICFEATURE$ and autistic behavior.	false
+770030ef223c3c289d9a5bfc24a96e65a85fe3f2	Non-pain-related indications for @DISEASE$ are movement disorders, @PHENOTYPICFEATURE$, and sequelae of spinal cord injury.	false
+750e88ee21226200aaed9ac7e6a1cae6297da0b6	Chronic @DISEASE$ may be a method of choice for patients with moderate spinal and cerebral @PHENOTYPICFEATURE$ with predominant spastic lower paraparesis.	false
+b59f49b5541391536f552bd6f3da0dfc28007684	20 patients with movement disorders and @PHENOTYPICFEATURE$ were treated with @DISEASE$ to decrease tonus and improve impaired motor function.	false
+205ad3523fff9d80a46c8880b450efc8774d7380	It is important to note that the @DISEASE$ caused by microdeletion is generally characterized by a @PHENOTYPICFEATURE$.	false
+1aa811822094f8337835655244ee59d54f3f47cf	Ocular involvement is often severe with photophobia, @PHENOTYPICFEATURE$ due to @DISEASE$, nystagmus, and strabism secondary to defective routing of optic axons in the chiasma.	false
+cb3e77ba47a9b4af728ad535252dc47d4c02b77b	All affected patients had nystagmus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7998b55acbd370d16f8617f5c382e6dd14b7de17	Congenital aniridia is a kind of eye disease characterized by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, glaucoma, and @DISEASE$.	false
+effdb7aa3862224ea57f3b85471f2e80d9fb212d	Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated @DISEASE$ associated with congenital nystagmus and @PHENOTYPICFEATURE$.	false
+78d53a10a66d8a7514a7c0a3c9b4ffa3447203a3	All patients presented with different degrees of iris depigmentation, horizontal jerk nystagmus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fe4c70967d0014933e79401eaea2d43b9b4328dc	Interestingly, eye pigment formation is reported to be normal in rp, but we found visual defects (nystagmus, iris transilluminancy, @DISEASE$, @PHENOTYPICFEATURE$, and evidence of optic pathway misrouting) in affected individuals.	false
+fd53597c537f29265f46d9367c3f2bf3dd7b6168	Common ocular findings include @PHENOTYPICFEATURE$, refractive errors, iris transillumination, nystagmus, @DISEASE$, fundus hypopigmentation and misrouting of optic nerve fibres at the chiasm.	false
+3093d38e52607e5e76e64df4cb90fe514fcbe9ec	In the genetic condition of albinism, hypopigmentation related to neural ectoderm derivatives is associated with @PHENOTYPICFEATURE$, @DISEASE$, and aberrant retinogeniculocortical projections.	false
+23d236867afcaf192c8ffea50bcb7cc31e583540	All affected individuals presented with nystagmus, photophobia, @PHENOTYPICFEATURE$, @DISEASE$ and varying degrees of hypopigmentation of the fundus.	false
+176ee5b9b5ae1b2b04e695859fa12496fb3494b9	X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, @DISEASE$, nystagmus, photodysphoria, and @PHENOTYPICFEATURE$.	false
+d73283d9a4c0fb3487bb109bcbb9adb95fc0ea2c	Young people with subclinical psychotic experiences and all patients with @DISEASE$ should be screened for @PHENOTYPICFEATURE$ spectrum traits, which may have significant impact on clinical outcomes.	false
+78186c350730f6e12100620bf04607dcd3e9b4d4	Lower NGF levels in @DISEASE$ patients at the onset of psychosis may have implications for the @PHENOTYPICFEATURE$.	false
+577484831e0304af31aee167dde1fefe06232e3a	In two cross sectional studies, individuals from a non-help seeking university student sample and patients with first episode psychosis (@DISEASE$) service completed standardized measures of @PHENOTYPICFEATURE$ spectrum traits, psychotic experiences, depressive symptoms and suicidal thinking.	false
+c6f1f9c72bd2fc5c7ad70e0c026a6262433fba1f	Between-group analyses showed that HCs, compared to @DISEASE$ patients, exhibited @PHENOTYPICFEATURE$ of the right middle frontal gyrus (Brodmann area, BA, 9), right inferior parietal lobule (BA 40), and right insula (BA 13) during attentional task performances and hyperactivation of the left insula (BA 13) during memory task performances.	false
+b65ae2e6a4cd402f7719c0afc3bbbbe1496cc31f	A 24-year-old woman suffering from left trigeminal neuralgia presented with the familial occurrence of @PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+65caa2ba432d6ec996d993ec2df92b0d2ce29ea3	@DISEASE$ syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms, persistent seizures, @PHENOTYPICFEATURE$, and in some cases, autism.	false
+f021ad7f54ba41d1071a438b15a96598e151c22f	@DISEASE$ syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms, persistent @PHENOTYPICFEATURE$, mental retardation, and in some cases, autism.	false
+5d1aa33bd6392e70e55e289fcab2278b2d3a4e2c	She developed physio-@PHENOTYPICFEATURE$ and subsequently @DISEASE$.	false
+0c0431fb6aee675d8614b9d653bb5753da1e8f85	Syndromic manifestations include @PHENOTYPICFEATURE$ with hand dystonia (Partington syndrome), infantile spasms (@DISEASE$) and/or other epileptic seizures.	false
+9545166ef0412ef318aefa35a01042b94eccd8f9	Syndromic manifestations include mental retardation with hand dystonia (Partington syndrome), infantile spasms (@DISEASE$) and/or other @PHENOTYPICFEATURE$.	false
+b1f7d980091b0b8f72143a47634e34540e00b6b1	Severe intellectual disability, @DISEASE$, Dandy-Walker malformation, and @PHENOTYPICFEATURE$ in a patient with partial tetrasomy 17q25.3.	false
+40dd97ac2ef13c6e82581f0718e5c881d280c165	In addition, several less severe phenotypes without malformations have been reported, including mental retardation with cryptogenic infantile spasms (@DISEASE$), other seizure types, dystonia or autism, and nonsyndromic @PHENOTYPICFEATURE$.	false
+5bc0b373c38ab466c44ece9ecc643948500b917f	In addition, several less severe phenotypes without malformations have been reported, including @PHENOTYPICFEATURE$ with cryptogenic infantile spasms (@DISEASE$), other seizure types, dystonia or autism, and nonsyndromic mental retardation.	false
+2308439b9ee97b1ad37a0c29153f8b5dd194c0fa	In addition, several less severe phenotypes without malformations have been reported, including mental retardation with cryptogenic infantile spasms (@DISEASE$), other @PHENOTYPICFEATURE$ types, dystonia or autism, and nonsyndromic mental retardation.	false
+20727fb04e6c4446b8175fc1d90c74cdf30e7761	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of @PHENOTYPICFEATURE$.	false
+18961b5ca616212974cfb525a2593deda6cedcd6	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with spasticity and @PHENOTYPICFEATURE$, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+3997a27a84c934c655cfa305cfd9cfbc68f1e6eb	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with @PHENOTYPICFEATURE$ and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+d0ff04bd20be005a97632784fcae3ede04c3fd81	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, @PHENOTYPICFEATURE$, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+8ece48a26661f4ebab293d379d642c7b8bf171bb	Recent work has demonstrated that mutations in ARX cause X-linked @DISEASE$, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (@PHENOTYPICFEATURE$, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+8f9ccf2efe69bfe5f4cf2a2e88182ca27655461f	@DISEASE$ is an age-related epileptic syndrome of infancy characterized by clusters of epileptic spasms, a peculiar interictal EEG pattern of hypsarrhythmia, and @PHENOTYPICFEATURE$.	false
+947806e1e1f4e1df66ed45f34bcf2cd20f911e0e	Early treatment of infantile spasms (@DISEASE$) and of myoclonic @PHENOTYPICFEATURE$.	false
+21b39f686e771393387dbd8bed1ee355f015eec6	Although children with @DISEASE$ frequently have associated @PHENOTYPICFEATURE$, patients with West syndrome associated with hyperlexia have never been reported.	false
+33d5a95575f53032beef165a13493a9602f09fc4	Although children with West syndrome frequently have associated @PHENOTYPICFEATURE$, patients with @DISEASE$ associated with hyperlexia have never been reported.	false
+91aad4fa01086973fb04053ebd2757b4e95419e6	Patients shared several common major characteristics including moderate to severe intellectual disability, early onset of puberty, @PHENOTYPICFEATURE$, and age related epileptic syndromes such as @DISEASE$ and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep.	false
+511c8742694e84a2349d53d41ff7374970dfb8c6	Patients shared several common major characteristics including moderate to severe @PHENOTYPICFEATURE$, early onset of puberty, language impairment, and age related epileptic syndromes such as @DISEASE$ and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep.	false
+e482c9d877dd7d2603693f0d560ab4dbe2170088	All six displayed a novel phenotype of proximal tubulopathy, characterised by generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricaemia, and additional features not seen in @DISEASE$: nephrocalcinosis, renal impairment, hypercalciuria with relative @PHENOTYPICFEATURE$, and hypermagnesaemia.	false
+bbe7ec4ed639507091ffa845fd3815378b6c8c36	Thus, in the presence of vitamin deficiencies in a patient with SSc, together with a search for malabsorption syndrome secondary to bacterial @PHENOTYPICFEATURE$, CD and/or PBC-associated @DISEASE$ should be investigated.	false
+3c3ec5549a90459dc7fad631306789613a238b89	The first presented with acute lactic acidosis at 3 weeks of age and developed severe developmental delay, hypotonia, microcephaly, seizures, progressive cortical atrophy, neurosensorial @PHENOTYPICFEATURE$, sideroblastic anemia and renal @DISEASE$, dying at 21 months.	false
+8a95772abafea57099a0c6f547b0a82b2636cf52	We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with @PHENOTYPICFEATURE$, @DISEASE$ (tubulopathy), microcephaly, mental and growth retardation.	false
+92cbbd6ed78218c3bcc9d70dfd8caa792b8f7adf	One infant, studied prior to the onset of significant renal insufficiency, manifested renal @DISEASE$, hyperparathyroidism, and marked @PHENOTYPICFEATURE$.	false
+6d12fc311a67b9b57c0b7784eebfa45eefad721a	We analyzed the entire mtDNA and 11 nuclear encoded complex I subunits in 23 @DISEASE$ children, classified into five clinical groups: Leigh syndrome, progressive leukoencephalopathy, neonatal @PHENOTYPICFEATURE$, severe infantile lactic acidosis, and a miscellaneous group of unspecified encephalomyopathies.	false
+857e5bbf40560ba631a9d63380d692f042b78089	@PHENOTYPICFEATURE$ combined with @DISEASE$.	false
+f283ab92d05df9a0bbb8847535fbc97a5be8e0c2	Complete ophthalmoplegia, complete @PHENOTYPICFEATURE$ and dilated pupil due to internal carotid artery dissection: as the first manifestation of @DISEASE$.	false
+cab119cb74e133224a4933d8851c2b1c6a7f5124	Occlusive thromboaortopathy, also known as "pulseless disease" or @DISEASE$, was first described in 1908 by Takayasu, who observed @PHENOTYPICFEATURE$ and peculiar arteriovenous anastamoses around the optic papillae in a young woman.	false
+a96b6312166df580f31e4a7b3ee56b296ae19ff3	We describe a patient with ocular inflammation, @PHENOTYPICFEATURE$ and arm claudication in whom a diagnosis of 'atypical' Cogan's syndrome and @DISEASE$ was made.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+5c528496fc077f7205c95a5f654ce6575f58f80e	Bilateral @PHENOTYPICFEATURE$ optic neuropathy in @DISEASE$ without cervical arterial stenosis.	false
+f108d0ded69886f485823f4d7e4614e1f7ee2432	We report a patient with @DISEASE$ who developed acute onset bilateral @PHENOTYPICFEATURE$ 6wks following percutaneous revascularization of occluded aortic arch branches.	false
+80054cf1df8cef4cf58275b03296e0dcf3fd6f89	This is a case report of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+e37e701dfd418ee6bc877945f121b48977d6930a	Ocular and extraocular causes of @PHENOTYPICFEATURE$ in @DISEASE$ are discussed.	false
+a4d1b9238764a35d08a62fb1a404be3d3e20ce97	Although significant decrease in retinal perfusion is usually not observed before all of the cervical arteries became markedly narrowed in patients with @DISEASE$ (TD), we present bilateral @PHENOTYPICFEATURE$ optic neuropathy in a patient with TD without any cervical arterial stenosis.	false
+1ea5d6daf9db2e8675e99ec13cdc372142bf8d89	The aim of this study was the endocrinological, enzymatic, and genetic evaluation of a family with a complex syndrome associating hypogonadotrophic hypogonadism with hyposmia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+815e5281c15bbba0e4ec8f6afee46fabea1055f4	Isolated @PHENOTYPICFEATURE$ or dysarthria @DISEASE$ paresis were the most frequent presenting forms.	false
+52222b4756c2578a22dd4767ffad75febd6ad9ff	Isolated dysarthria or @PHENOTYPICFEATURE$ @DISEASE$ paresis were the most frequent presenting forms.	false
+bd7ba2f0f2153640ce7439b4bdd0bbbbe1d6699c	One of the children also has dysmorphic @DISEASE$ features, @PHENOTYPICFEATURE$, and severe mental retardation.	false
+cf1c67201827b3e69558591389cb1d823c387b46	One of the children also has dysmorphic @DISEASE$ features, seizures, and @PHENOTYPICFEATURE$.	false
+da7414ddc641a4679c374305e17bdc71f3715c8d	Clinical findings ranged from major devastation following extensive lesions (pure motor hemiplegia) to incomplete basilar pontine syndrome and restricted deficits after small focal lesions (ataxic hemiparesis, dysarthria-clumsy hand syndrome, dysarthria-dysmetria and @PHENOTYPICFEATURE$-@DISEASE$ paresis).	false
+b98ec24ba220b7b227b7a6c7d292be0d49fbe70a	Clinical findings ranged from major devastation following extensive lesions (pure motor hemiplegia) to incomplete basilar pontine syndrome and restricted deficits after small focal lesions (ataxic hemiparesis, dysarthria-clumsy hand syndrome, @PHENOTYPICFEATURE$-dysmetria and dysarthria-@DISEASE$ paresis).	false
+20990bdf2d68fa5a1779f896fc36fa666a4c2eb2	Clinical findings ranged from major devastation following extensive lesions (pure motor hemiplegia) to incomplete basilar pontine syndrome and restricted deficits after small focal lesions (@PHENOTYPICFEATURE$ hemiparesis, dysarthria-clumsy hand syndrome, dysarthria-dysmetria and dysarthria-@DISEASE$ paresis).	false
+1d700b400f2855442cd6ce0c128f930aad64c6bc	Clinical findings ranged from major devastation following extensive lesions (pure motor hemiplegia) to incomplete basilar pontine syndrome and restricted deficits after small focal lesions (ataxic @PHENOTYPICFEATURE$, dysarthria-clumsy hand syndrome, dysarthria-dysmetria and dysarthria-@DISEASE$ paresis).	false
+79a89af4fb6afb870a1e4a791bb3cc03371b1298	The patient suffered from severe mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$ angiofibromas.	false
+5ffbd555f8102a3f23249ea924a78fe400f52397	The patient suffered from @PHENOTYPICFEATURE$, seizures and @DISEASE$ angiofibromas.	false
+36f349fadaa257262dfadff0b516a27f766de3c5	She had no @DISEASE$ weakness and @PHENOTYPICFEATURE$.	false
+c02aa0db32f7944512ab965634524d0e5e3903d4	Unusual @DISEASE$ @PHENOTYPICFEATURE$.	false
+54409684735c951f6cff1776ff91a704f2a3805c	The clinical features, comprising nystagmus, skew strabismus, unilateral @DISEASE$ weakness, @PHENOTYPICFEATURE$ and ataxia, are compared with four previously reported patients with this syndrome.	false
+87e9025f0b9d7a72493e9449f207e42a4cedf62b	The clinical features, comprising nystagmus, skew strabismus, unilateral @DISEASE$ weakness, dysarthria and @PHENOTYPICFEATURE$, are compared with four previously reported patients with this syndrome.	false
+d5849db537b14ef0c59ac42d07266f64b91f34e4	In addition to severe mental retardation and @PHENOTYPICFEATURE$, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic @DISEASE$ features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis.	false
+826c2c7bf31a6cc69ed233bcb77b9479ae1d050d	In addition to severe mental retardation and seizures, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with @PHENOTYPICFEATURE$ of the limbs, dysmorphic @DISEASE$ features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis.	false
+4181242145d9a25881883457b39c602e140bacdd	In addition to severe mental retardation and seizures, clinical examination showed an @PHENOTYPICFEATURE$ and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic @DISEASE$ features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis.	false
+279edb8e6cbb1bd7295924d313d26e558100af6f	In addition to @PHENOTYPICFEATURE$ and seizures, clinical examination showed an ataxic and stiff legged gait, truncal hypotonia with hypertonia of the limbs, dysmorphic @DISEASE$ features (brachycephaly, large mouth, pointed chin and a prominent jaws) and scoliosis.	false
+ebb0f849b6871a4480f429134a359505cd30ebd4	Clinical features consisted of @DISEASE$ diplegia, dysarthria, pseudobulbar palsy, mild to @PHENOTYPICFEATURE$, and seizures.	false
+0b5ff2a48a2d4439b356fd1e08f51343ff4794c2	Clinical features consisted of @DISEASE$ diplegia, dysarthria, pseudobulbar palsy, mild to severe mental retardation, and @PHENOTYPICFEATURE$.	false
+a9ece551528267bbba46c81635cbec8ef5446404	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with @PHENOTYPICFEATURE$, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+4d2e3786365fb991aac9cf07c8777e2f94222342	Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue @PHENOTYPICFEATURE$ and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+79fdf53b2f737ac23ffcda3be73b12efacab1e23	Saethre-Chotzen syndrome (acrocephalo-@PHENOTYPICFEATURE$ type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and @DISEASE$ dysmorphism including ptosis, facial asymmetry and prominent ear crura.	false
+a187cb1426f385381d4798e3fc470c5daddfc93d	X-linked @DISEASE$ (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, @PHENOTYPICFEATURE$ speech impairment, seizures and behavioral problems.	false
+8c9a8fea2aaeaf91be8f8ea945c41688b993f8f4	Invasive but low-risk lesions may be treated with @DISEASE$ and cryotherapy provided that the @PHENOTYPICFEATURE$ is limited to the papillary dermis, is not recurrent, and does not have high-risk features.	false
+c46741bb322201d2939046dc38e535d5d942cc82	Among the 11 patients with primary hypogonadism, 8 presented with various degrees of @PHENOTYPICFEATURE$, 1 was a true hermaphrodite and 2 had the @DISEASE$.	false
+eb1614a020c93d66a644131b0098103ee655e988	Type I @DISEASE$ (TD) is typically a lethal neonatal @PHENOTYPICFEATURE$, but a limited number of cases of type I TD cases survive more than one year, suggesting genetic heterogeneity.	false
+91de6d2235921913872effabbf475ef48b3d27b3	@DISEASE$ (TD) is a @PHENOTYPICFEATURE$ neonatal dwarfism syndrome that is usually lethal in the perinatal period.	false
+356a0941e3316988c41a811e5b0ed6dc67a9be7a	@DISEASE$ (TD) is a short-limb neonatal @PHENOTYPICFEATURE$ syndrome that is usually lethal in the perinatal period.	false
+a7d408956634069bf73205ac10aac296df901b99	@DISEASE$ (TD) is the most common form of lethal neonatal @PHENOTYPICFEATURE$ with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity.	false
+3974454abd3d167647fb186ddecc1ab63e083f94	The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes @DISEASE$ type II, a neonatal lethal congenital @PHENOTYPICFEATURE$ syndrome, and when acquired somatically, it contributes to carcinogenesis.	false
+f269298864fc0995b56142f50fe9852495a46cfa	The skeletal dysplasias studied included camptomelic dysplasia (n = 2), @DISEASE$ (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and @PHENOTYPICFEATURE$ dysplasia (n = 1).	false
+06de0b82757f5390e48aba8080bcf355ac5214c6	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, @DISEASE$, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome.	false
+1ca6964e375d93f95b702160334b5dd83b5c4cc2	@DISEASE$ (TD) is a lethal form of @PHENOTYPICFEATURE$ skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull.	false
+2f18cd6f224824bc5d8947681ffe21a66a9478dc	The HDlive rendering mode clearly showed the anatomical features of @DISEASE$: external malformations and skeletal abnormalities, including extremely @PHENOTYPICFEATURE$, flattened vertebral bodies, and short horizontal ribs, among others.	false
+681b5b25ba6fbe578052e4c3649272aeef0af7f7	Focal cortical dysplasia (@DISEASE$), a form of @PHENOTYPICFEATURE$, is a malformative lesion of the neocortex that occurs during development of the brain.	false
+1a74af5a564556148b906b2fa9894ace75e454cc	A history of young age of seizure onset, frequent seizures before surgery, secondarily @PHENOTYPICFEATURE$, a multilobar epileptogenic zone, frontal lobe surgery, and focal cortical dysplasia (@DISEASE$) are the most important predictive factors indicating that a patient would continue having seizures after surgery.	false
+30ce36ccd83b657de4fcad0f93cae8d5f8b5c865	We demonstrate the importance of the underrated interictal (rather than ictal) surface EEG in informing decision-making in epilepsy surgery for children with @PHENOTYPICFEATURE$ caused by subtle focal cortical dysplasia (@DISEASE$).	false
+a5f7ae9ec1219b1a44f032f3d46940c5f6117433	TAK-044 improved the pulmonary microhemodynamics, inhibiting the accumulation of leukocytes, the @PHENOTYPICFEATURE$, and the decrease of @DISEASE$.	false
+aa2995440333b918dfc19cd93208df3678725108	Neutropenic @DISEASE$ (typhlitis) is an unusual acute complication of neutropenia, most often associated with @PHENOTYPICFEATURE$ and lymphoma and characterized by segmental caecal and ascending colonic ulceration that may progress to necrosis, perforation, and septicaemia.	false
+06d57e71d93308372661bf9a714026da5e526d2f	Thus, in contrast to the infant with @DISEASE$, features such as emesis, failure to thrive, significant @PHENOTYPICFEATURE$, and dramatic diarrhea are not seen.	false
+4053fb04619ba2a1fae3d3cd7e792951ef806fef	@DISEASE$ (SDS) is an autosomal recessive disorder characterized by bone marrow failure and leukemia predisposition, pancreatic exocrine dysfunction, and skeletal abnormalities, manifesting as @PHENOTYPICFEATURE$ and osteoporosis.	false
+cea59af215a7207683ec941edfae480732a2661c	Among 41 patients with @DISEASE$ who enrolled on the registry, we identified one male patient with a solid @PHENOTYPICFEATURE$: moderately differentiated pancreatic ductal adenocarcinoma.	false
+7c2cb94d3100c05d2f6c8c1e37472d7826a5c1d1	The @PHENOTYPICFEATURE$ was intermingled with two pathological changes characteristic of @DISEASE$: fatty degeneration of the pancreas and inflammation of the villous stroma of the duodenum.	false
+b495820d124e28fa3ddfce36226e254b1a6c0130	We report a novel case of a solid @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and biallelic mutations in the Shwachman Bodian Diamond Syndrome gene (SBDS).	false
+b049da4a9f83b126c7a65458c484b34e4c42bd98	The features favoring a clinical diagnosis of @DISEASE$ are marked orthostatic hypotension, erectile impotence in males, urinary symptoms, nocturnal stridor, rigidity and akinesia without tremors, levodopa unresponsiveness, @PHENOTYPICFEATURE$, cerebellar atrophy on brain CT scans and MRI.	false
+4f49d7aed245a1942e21898d6b4d1091a7efb628	a region that contains an inherited disorder affecting the pancreas (@DISEASE$) as well as a locus involved in T-cell @PHENOTYPICFEATURE$ invasion and metastasis (INM7), and therefore is a positional candidate for these pathologies.	false
+e33f60e7472c00d5c60bab7a30e58a3cd5a6381a	The @DISEASE$ (SBDS) gene is a causative gene for Shwachman-Diamond syndrome, an autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow dysfunction and @PHENOTYPICFEATURE$.	false
+69a73b7472b7b89d2e2cbbde339effade57e4bb2	The Shwachman-Bodian-Diamond syndrome (SBDS) gene is a causative gene for @DISEASE$, an autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow dysfunction and @PHENOTYPICFEATURE$.	false
+bb55585bd12bb6a65969b2c23eece0a025ca7b76	@DISEASE$ (SDS) is an autosomal recessive disorder characterised by @PHENOTYPICFEATURE$, exocrine pancreatic insufficiency and bone marrow failure.	false
+fe10ea179ce7722a427e4cd96f9d1dcc5f447ddc	Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of @DISEASE$ (SDS) whereas the associated @PHENOTYPICFEATURE$ is variable and not consistently observed.	false
+46f68ebda2615fba28455dea380745b7945363c5	This is the first report of senescence, a @PHENOTYPICFEATURE$ suppression mechanism, in association with @DISEASE$ or in response to a ribosomopathy.	false
+39a767db0b5bd26b2005df11b34141c2179e37e6	The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with @PHENOTYPICFEATURE$, PNH with @DISEASE$, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+b9c9d1fe79df64d71407efc1c5901d98869c2217	The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with @DISEASE$, PNH with @PHENOTYPICFEATURE$, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+4b32f0a8b4f567fdfe4244c1fa959bbf769443ff	Mucolipidosis type II (ML II, OMIM 252,500) is an autosomal recessive disorder clinically characterized by @PHENOTYPICFEATURE$ similar to @DISEASE$ and pronounced gingival hypertrophy.	false
+51fe9b1109bc93e4a1a8032fe6bf945d7b50cb90	DASS-42 Questionnaire can also be used to determine the level of anxiety, stress and depression in diseases of the oral mucosa like recurrent apthous @PHENOTYPICFEATURE$, burning mouth syndrome and @DISEASE$ disorders.	false
+a17dc05bd1fcf163b4d863122849dca658af2332	A prominent etiological theory proposed for @DISEASE$ related headache is that it results from a dysfunctional masticatory muscle system, wherein muscle @PHENOTYPICFEATURE$ is frequently caused by dental temporomandibular disharmony.	false
+c90cec9209bddc673ae41e44ad7fe5a375c46071	Wind instrument players, as a consequence of their musical performance and its relation with the CCMC, can develop a @DISEASE$ associated to muscle @PHENOTYPICFEATURE$ of certain elevator muscles, or even an increase of the intra-articular pressure in the functioning of the TMJ throughout musical activity.	false
+3d534ef190d1a116a74900130ba7a5f8f4e94586	Inactivating mutations of the calcium-sensing receptor (CaSR), a G-protein-coupled receptor with extracellular (ECD), transmembrane (@DISEASE$) and intracellular (ICD) domains, cause familial hypocalciuric @PHENOTYPICFEATURE$, neonatal severe primary hyperparathyroidism and occasionally primary hyperparathyroidism in adults.	false
+02555f0e3c517cd91c34e1bf8286cfeefe724fdb	@DISEASE$ patients have a variety of symptoms, including jaw @PHENOTYPICFEATURE$ and TMJ pain.	false
+b0a169327b1ef11bfb4828c10773e4f368eb3492	The most common @DISEASE$ diagnoses were: masseter trigger points, closing jaw muscle hyperactivity, TMJ synovitis, opening jaw muscle @PHENOTYPICFEATURE$, and advanced TMJ disk derangement.	false
+30e44e00564d35c64e5e746bce2450720fcdec36	The most common @DISEASE$ diagnoses were: masseter trigger points, closing jaw muscle @PHENOTYPICFEATURE$, TMJ synovitis, opening jaw muscle hyperactivity, and advanced TMJ disk derangement.	false
+6eddfd97eae9c69ed7b741ec18f3f6140663b5e3	The progressive nature of certain forms of TMD, combined with the major advantages deriving from early treatment, encourage the dental surgeon to carry out early interception of all those dental and/or @PHENOTYPICFEATURE$ which may determine the dysharmonic function and development of the facial mass, even though such anomalies may not represent the sole causes of the various forms of @DISEASE$.	false
+6d322e894b2f4ac158bae40827263b9c9468b2c3	The progressive nature of certain forms of @DISEASE$, combined with the major advantages deriving from early treatment, encourage the dental surgeon to carry out early interception of all those dental and/or @PHENOTYPICFEATURE$ which may determine the dysharmonic function and development of the facial mass, even though such anomalies may not represent the sole causes of the various forms of TMD.	false
+c25b5390798490febcc5eb698670e23482b6f540	The aim of the current study was to assess the prevalence of tardive @PHENOTYPICFEATURE$ (@DISEASE$) among a group of institutionalized schizophrenic and schizoaffective patients in southern region of Israel.	false
+9cb460bfd3a65c476032ce8f604756c8d8de4330	The pathogenesis of neuroleptic-induced tardive @PHENOTYPICFEATURE$ (@DISEASE$), including tardive parkinsonism and tardive dyskinesia (TD), has not yet been established.	false
+58dc27041ba129370b7d90072bba8a9d3e5dd927	Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like ? thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus @PHENOTYPICFEATURE$, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, @DISEASE$, and facioescapulohumeral syndrome, among others.	false
+9f7dd8620ceb3d3dd70532144940d85262c5a951	The mosquito-borne @DISEASE$ (JE) virus is the major etiological agent of viral encephalitis in children living in South-East Asia, causing comas, seizures and Parkinson's disease-like @PHENOTYPICFEATURE$.	false
+4015b1eab5c77c0b951a0de52c96f6069ba9f5d4	@DISEASE$ with @PHENOTYPICFEATURE$ and atypical magnetic resonance imaging.	false
+d12bdcc59038674ba7e527c87fa2d17519c0690b	Cerebrospinal fluid catecholamine levels in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+d6b81db630101ad10bb7453e4d568b2d419fdeeb	Yellow fever 17D virus, a safe and effective live, attenuated vaccine, was used as a vector for genes encoding the protective antigenic determinants of a heterologous member of the genus Flavivirus, @DISEASE$ (JE) virus, the leading cause of acute viral @PHENOTYPICFEATURE$ and death throughout Asia.	false
+15645ff2d1d76bc72c85c51c089116b9c0496f09	Some studies have indicated high comorbidity of IED and ASD, while other studies have not supported an association between the central symptoms of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+48d618a5fee9f85596fb09772e4d979e79fd3271	Some studies have indicated high comorbidity of @DISEASE$ and ASD, while other studies have not supported an association between the central symptoms of @PHENOTYPICFEATURE$ and IED.	false
+d2a162188d6c23040082a1303eb146c83e394f6f	Copy number variants (CNVs) are known to be associated with complex neuropsychiatric disorders (e.g., schizophrenia and @PHENOTYPICFEATURE$) but have not been explored in the isolated features of aggressive behaviors such as intermittent explosive disorder (@DISEASE$).	false
+464ddfc4be3d7f705d433788ced1fe0c683fb2f6	@DISEASE$ is a heterogeneous inherited @PHENOTYPICFEATURE$ in which dwarfism is a major feature.	false
+0cdc93cfeb0a342e453039f57b28e3e0e734baa9	This rare @PHENOTYPICFEATURE$ is inherited as an autosomal recessive trait, and differential diagnosis is to be made with @DISEASE$ and acrodysostosis.	false
+ee5fe884234ade131768e33d278a03c0a74f0264	Fine structure of @PHENOTYPICFEATURE$ as seen in @DISEASE$ and asphyxiating thoracic dystrophy.	false
+e96098209b5aad5c57abecfc9fa42f84adfd2203	@DISEASE$ is an inherited @PHENOTYPICFEATURE$ with short-limbed dwarfism and early onset of osteoarthritis.	false
+d50241a0fceed664e78cfc07e423b4e53cb6d345	Patients with @DISEASE$ have a @PHENOTYPICFEATURE$ with marked short stature.	false
+464ddfc4be3d7f705d433788ced1fe0c683fb2f6	@DISEASE$ is a heterogeneous inherited @PHENOTYPICFEATURE$ in which dwarfism is a major feature.	false
+ef0e296802fd465b33ea4e438a35e91968099632	In this paper we report a 22-year-old male with an asymmetric @PHENOTYPICFEATURE$, affecting almost the whole right part of the body and closely resembling @DISEASE$.	false
+a0cf0dbb1a25babbb219a270cdba12605b2c9910	@DISEASE$ is a rare rhizomelic short-limbed @PHENOTYPICFEATURE$.	false
+3a06ef79fc3889c9ae8bb9807b27d333b9f74eaa	The histopathological features of cutaneous hyperpigmentation in @DISEASE$ have very occasionally been reported, and they include acanthosis, @PHENOTYPICFEATURE$, focal parakeratosis, spongiosis, superficial perivascular lymphocytic infiltrate, basal melanin hyperpigmentation, and superficial dermal melanophages.	false
+230a7340edc3ccf93b48748e0dd95573d16c7be8	A case of a middle-aged man with @DISEASE$ in the intradural extramedullary cervical spine and brain who originally presented with bilateral @PHENOTYPICFEATURE$ of his extremities, with a progressively unsteady gait.	false
+db1a9000c903b7cd2d544160c5cd591d944f11c9	The author reports a case of @DISEASE$ and hypoparathyroidism in a 28 year-old female with bilateral symmetric @PHENOTYPICFEATURE$ demonstrable by C.A.T.-Scan.	false
+5db835f21ad46837ae61fb60b721f8126f67069a	@DISEASE$ (AD) characteristically presents with early @PHENOTYPICFEATURE$.	false
+3d849eb0d89f26cfb3bc83e0c92a50d5097981f5	@DISEASE$ (AD) is an irreversible, multifaceted, and @PHENOTYPICFEATURE$ disorder.	false
+735341f64315d74c9370fc5d454951bdfa3bbb70	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder and the most common form of dementia.	false
+dbce812d53fd02bd3939a1884cf374af5f5b92c1	LTP-like cortical plasticity is associated with verbal @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+4167d33b3874bad75f2c1d5ea2cb1bfb91ec33f5	Age-associated @PHENOTYPICFEATURE$ and @DISEASE$.	false
+132dbf6450c3b0dcb5db347f631b39ff3fabf1c8	@PHENOTYPICFEATURE$ mimicking @DISEASE$: such an infrequent case?	false
+b15885e1e7823c23f5f803ad771d50d5088cf33c	Mutations in presenilins (PS1 and PS2) have been linked to the pathogenesis of early @PHENOTYPICFEATURE$ familial @DISEASE$.	false
+735341f64315d74c9370fc5d454951bdfa3bbb70	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder and the most common form of dementia.	false
+8f846dd8f7d32d66c9480b3f2d25df6f6fd1e2ff	@DISEASE$ (AD) is a progressive neurodegenerative brain disorder that is characterized by dementia, cognitive impairment, and @PHENOTYPICFEATURE$.	false
+9011a066885492eda1e348b5213c4d35cf1f196e	@DISEASE$ (AD) is a @PHENOTYPICFEATURE$ brain disorder that is characterized by dementia, cognitive impairment, and memory loss.	false
+6a524f0d8223a2b8f6109ac1fd0d8c23875a19a4	@DISEASE$ (AD) is an irreversible, @PHENOTYPICFEATURE$ disorder.	false
+3a5117bff609ba2eb19f05580e61407196d3ed24	These last four patients had markedly @PHENOTYPICFEATURE$, with @DISEASE$ and attenuated retinal vessels.	false
+c27fa3bb4c0e88335af8c9f72ac04a7066abf091	Magnetic resonance imaging showed marked @PHENOTYPICFEATURE$, @DISEASE$, and hypomyelination.	false
+6d65994cdae471d9972562ada444e2a30a59429c	Three patients each had cortical blindness, macular degeneration, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8efbaa116a0ec54a817a88202855887d078cf695	Neurological examination revealed bilateral @PHENOTYPICFEATURE$, @DISEASE$ and bitemporal hemianopsia.	false
+61a1ad8712b3964f718828cc098a32b07201fe5d	There were neck dystonia and bilateral @PHENOTYPICFEATURE$ due to secondary @DISEASE$ of retinitis pigmentosa.	false
+3385a290d98c2f6dc366b98758beec2ea1f9c75f	Subsequent follow-up demonstrated @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2c7c9fdfe3244fd34ffe753d1e653c35ee8fdec4	Clinical examination is characterized by bilateral @PHENOTYPICFEATURE$, central scotomas on visual field testing, decreased color vision, and @DISEASE$.	false
+bcc5a0f9cf5188d7b6dc26a1b5da5cd793c1d34c	She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bf937f73c8dc554f2ac31a0d05f80001c63bb6aa	Neurodegenerative features of the disease include progressive @DISEASE$ and worsening @PHENOTYPICFEATURE$.	false
+328d530d795557e3bb11949b25183093afbc0227	The first patient presented with typical chiasmal syndrome (@PHENOTYPICFEATURE$, bitemporal hemianopia, and @DISEASE$).	false
+7c6b2c2677cbf773affbcf2a2d31902ac1620343	We describe a rare association of @PHENOTYPICFEATURE$, PRS, and subdural @DISEASE$.	false
+c72ee55cf77f78af945bc1b99c88a315086cb4e3	The malformations included: anencephaly (22), severe hydrocephaly (4, one with a @PHENOTYPICFEATURE$), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), @DISEASE$ and hydrops fetalis (2), osteogenesis imperfecta, type II (I).	false
+1a176543ce68a58a2d285ef6b3df2887e8ca0e5c	Thyroglossal duct abnormalities are the most common, followed by branchial apparatus abnormalities, lymphangiomas (@DISEASE$), and subcutaneous @PHENOTYPICFEATURE$ (hemangioma, AVM).	false
+443eb601fa64c5476cea1eddb401568f15145c6d	Three neonates died after delivery owing to malformations in two cases (one critical aortic stenosis, one @PHENOTYPICFEATURE$ plus @DISEASE$ colli) and due to myocarditis in one case.	false
+dc3ff26164f24974d4112ea36949dd7578f9dfe9	The authors describe the anatomy of this space and the abnormalities found therein, including @PHENOTYPICFEATURE$ (aberrant right subclavian artery, right aortic arch, double aortic arch, true and false aortic aneurysms), thoracic duct lesions, esophageal abnormalities (benign and malignant tumors, congenital atresia, duplication cysts, foreign bodies, diverticula, and achalasia), and miscellaneous entities (intrathoracic thyroid, bronchogenic cyst, bronchogenic carcinoma, @DISEASE$, and emphysema).	false
+4452f79a5cc355e11d15d565e718b364a5238685	During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a @DISEASE$, craniofacial defects (low-set ears, broad nose), heart defects (single atrium, single ventricle), @PHENOTYPICFEATURE$, limb defects (clenched hands, pes equinovarus).	false
+1389444771dad2ede13f8591e39eff22abdd95f9	The categories were in descending order: (I) combined central nervous system (CNS)/cranial shape and cardiac anomalies (excluding spina bifida and anencephaly); (II) key anomaly present (exomphalos/ intrauterine growth restriction/duodenal atresia/@DISEASE$/fetal hydrops/talipes--with other multiple anomalies); (III) CNS +/- other abnormality (excluding choroid plexus cyst, @PHENOTYPICFEATURE$, anencephaly); (IVa) increased nuchal translucency--first trimester +/- other abnormality; (IVb) increased nuchal thickening--second trimester +/- other abnormality; (V) cardiac anomaly +/- other abnormality; (VI) other markers of aneuploidy (pyelectasis/two vessel cord/echogenic bowel/short femur); and (VII) other (mostly isolated) malformations.	false
+13af2c4ffc0765bb0e3f879b2f7f90bd5b508d93	The categories were in descending order: (I) combined central nervous system (CNS)/cranial shape and cardiac anomalies (excluding @PHENOTYPICFEATURE$ and anencephaly); (II) key anomaly present (exomphalos/ intrauterine growth restriction/duodenal atresia/@DISEASE$/fetal hydrops/talipes--with other multiple anomalies); (III) CNS +/- other abnormality (excluding choroid plexus cyst, spina bifida, anencephaly); (IVa) increased nuchal translucency--first trimester +/- other abnormality; (IVb) increased nuchal thickening--second trimester +/- other abnormality; (V) cardiac anomaly +/- other abnormality; (VI) other markers of aneuploidy (pyelectasis/two vessel cord/echogenic bowel/short femur); and (VII) other (mostly isolated) malformations.	false
+2450aa37a4822507c7888cc2bec26f16c093f440	According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4e0dbf386e46867a6d0ae81927581f1746b1f96d	A 19-year-old male patient presented with progressive @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5500ba4c3eeeea404d5ea9b3a3aa0fcf265dc7a5	Subjects with brain injury and those effected by particular forms of epilepsy (@DISEASE$, grand and @PHENOTYPICFEATURE$ status, complex epileptic attacks) are more prone to relapse, particularly when seizures have been very frequent.	false
+c449c75ab26709c757151b095e36d36782f6c264	Emergency medical services (@DISEASE$) practitioners in Ireland have been recently licensed to use continuous positive airway pressure (CPAP) ventilation for patients with @PHENOTYPICFEATURE$.	false
+eda391e9a2bac355ebadff87534e06460c17f19e	A combination of @PHENOTYPICFEATURE$ alone resulted in the excellent prognosis for both absence and @DISEASE$, and a combination of generalized tonic-clonic seizure on awakening related to rare myoclonic seizures.	false
+4555181ddb95c8550b18de829da67e6d813f9484	@DISEASE$ associated with ragged-red fibers (MERRF) is a mitochondrial disorder characterized by myoclonus epilepsy, @PHENOTYPICFEATURE$, ataxia and myopathy.	false
+24b110f9d5de240576bccf953f3487e32156dec1	Using a nonrandomized control group design, all consecutive patients presenting to two participating emergency medical services (@DISEASE$) systems with a field impression of acute @PHENOTYPICFEATURE$ between July 1, 2004, and June 30, 2005, were included in the study.	false
+b36c62876705be2148445686e680548de1047a63	CPAP therapy with the Boussignac system as additional measure was introduced in cases of acute cardiogenic @PHENOTYPICFEATURE$ (ACPE) or decompensated chronic obstructive pulmonary disease (COPD) in a physician-supported emergency medical services system (@DISEASE$).	false
+cd084352655d1db45bf6ac12cb3fe6a54d0eb495	Valproic acid, a new anticonvulsant, is most effective in @PHENOTYPICFEATURE$ (simple and complex), but it has produced improvement in tonicclonic seizures, mixed absence with tonic-clonic seizures, and @DISEASE$.	false
+ce61d5c96a8fcad645c4966ee38e41d6efe71137	These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, @DISEASE$, and early infantile epileptic encephalopathy), infantile spasms, or mixed @PHENOTYPICFEATURE$ types in infancy, childhood, or even adolescence and adulthood.	false
+8a6f2270ba0ad20bc6e8abcc169c5b6bbdce4212	To estimate the cost-effectiveness of continuous positive airway pressure (CPAP) in managing prehospital acute @PHENOTYPICFEATURE$ in an urban @DISEASE$ system.	false
+62714779bbd765aeb5a227aa20e7e62d0f6d4f04	We present an infant with aplasia cutis, atrophic skin lesions, @PHENOTYPICFEATURE$ and eye abnormalities who was diagnosed with @DISEASE$ soon after birth.	false
+1b216383fc68ac7a144f7db4d0e95707267810d1	We describe a girl who was diagnosed with split foot-split @PHENOTYPICFEATURE$ prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have @DISEASE$.	false
+c5f0227677af2a43668d5bddd58bff58b336871d	We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, @PHENOTYPICFEATURE$, and lobster claw deformity characteristic of @DISEASE$.	false
+0c11e9c643d3aa2dbecb573e6a61218470873f42	Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), @DISEASE$, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and @PHENOTYPICFEATURE$.	false
+997d979db555fba39e00af6932eec6cdb135294e	It is presumed that these pathomechanisms may contribute at least partly to explain the neuropathology of @PHENOTYPICFEATURE$ and the ataxia observed in patients with @DISEASE$.	false
+fc37561609f852d9b2e64965e9476cc7859832d8	A predominant corticospinal dysfunction is evident in @DISEASE$, along with milder @PHENOTYPICFEATURE$, intellectual disability of variable degree and rare peripheral neuropathy.	false
+8b8be4f86dcd44bbf7614735682acb7910c62b3f	Taken together, our data indicate that redox homeostasis is disturbed by the major metabolites accumulating in @DISEASE$ and that this mechanism may be implicated in the ataxia and @PHENOTYPICFEATURE$ observed in this disorder.	false
+4beeaecc114cb6c650992a5508792b3045629e00	Anesthetic management of a patient with Wilms tumor, @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation syndrome undergoing right nephrectomy.	false
+bf62d71893d8b23964c61bb5b79119a501b8ac68	The association of @DISEASE$, Wilms' tumor, and @PHENOTYPICFEATURE$.	false
+a9e35496eb48dbdce9a764c86f9e5e85b94ec186	The association of @DISEASE$, Wilms's tumor, and @PHENOTYPICFEATURE$.	false
+7cfa5a61d6a310e394d2e3282f1264faa47eb9bc	They were examined because they had either isolated sporadic or familial aniridia, or @DISEASE$ with one or more of the WAGR (Wilms' tumour, aniridia, @PHENOTYPICFEATURE$, and mental retardation) syndrome anomalies.	false
+e55c6357deb9ff0157372db5171efbd0de8f1a1e	They were examined because they had either isolated sporadic or familial @DISEASE$, or aniridia with one or more of the WAGR (Wilms' tumour, aniridia, @PHENOTYPICFEATURE$, and mental retardation) syndrome anomalies.	false
+0bd3b6a43e8499de6e2fb37ade38539ef66f9f88	They were examined because they had either isolated sporadic or familial aniridia, or aniridia with one or more of the WAGR (Wilms' @PHENOTYPICFEATURE$, @DISEASE$, genital anomalies, and mental retardation) syndrome anomalies.	false
+26a6c6159e84939fe33a6eb5f28916d69968ecd2	They were examined because they had either isolated sporadic or familial aniridia, or aniridia with one or more of the WAGR (Wilms' tumour, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation) syndrome anomalies.	false
+6e87030bef73704c7eff2776a54762f27f6435c1	They were examined because they had either isolated sporadic or familial @DISEASE$, or aniridia with one or more of the WAGR (Wilms' @PHENOTYPICFEATURE$, aniridia, genital anomalies, and mental retardation) syndrome anomalies.	false
+369f99dbcaeb19769d64ecc3d31760f3998e321e	They were examined because they had either isolated sporadic or familial aniridia, or @DISEASE$ with one or more of the WAGR (Wilms' @PHENOTYPICFEATURE$, aniridia, genital anomalies, and mental retardation) syndrome anomalies.	false
+a33b1014b97dcfed4b36d44998842fb5cf37578c	Congenital @DISEASE$, a severe bilateral panocular visual disorder, is an @PHENOTYPICFEATURE$ eye anomaly.	false
+0562824d2f56b83899834903fa6df209f8247386	We report on a boy presenting submucous @PHENOTYPICFEATURE$, hydronephrosis, ventriculoseptal defect, @DISEASE$, and developmental delay.	false
+3f18a07e88d4b4c6a5d271298305b40e79c3a156	[Terminal @PHENOTYPICFEATURE$ in @DISEASE$-Wilms syndrome].	false
+593099dc0364ddb5839aa1a7819e7f20ed897015	Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial @DISEASE$, hypotonia, progressive @PHENOTYPICFEATURE$, nonprogressive ataxia, and intellectual disability.	false
+7b4929cffe2b7e4c082ea46912c97b42cafe311e	Other congenital abnormalities were @DISEASE$, mental retardation, deafness, nystagmus, and @PHENOTYPICFEATURE$.	false
+b1fd9183503309d7c5e4ee24d5e0d72d20bc045a	A comparison of four cases reveals common finding--@DISEASE$, dysgenetic gonads, @PHENOTYPICFEATURE$, mental retardation, deletion of 11p13, early occurrence and bilaterality of gonadoblastoma.	false
+e3808c16deaf33331bdb89941fdf7da825e2a95d	@DISEASE$ @PHENOTYPICFEATURE$ and performance during intense exercise.	false
+7daf3d1bb645f9ebbe0db26066f16da17d852031	@DISEASE$ @PHENOTYPICFEATURE$ and hypercapnea occurred in both groups.	false
+068cd6505f411c3135d8a059a47c7fde45311e29	A rare cause of dyspnea and @DISEASE$ @PHENOTYPICFEATURE$.	false
+e5e0d67dccafc8d1e799a1b99f847def27b6d781	@DISEASE$ @PHENOTYPICFEATURE$ and fiberoptic bronchoscopy.	false
+717a08891d53b7726b18eb5fe5397cf6ae185b63	All patients had @DISEASE$ @PHENOTYPICFEATURE$ and four required mechanical respirators.	false
+e29dc0b4f6deb7d870e2c6243fb41319add69991	Congenital @DISEASE$ malformations associated with @PHENOTYPICFEATURE$.	false
+5666dd9c3ee951051e1230024ad240abb4728b54	@DISEASE$ @PHENOTYPICFEATURE$ was observed only during maximal exercise.	false
+0c9d61791390dd6d518a3b32800bb730e447986c	[@DISEASE$ @PHENOTYPICFEATURE$ during heart operations with artificial circulation].	false
+4502d7b6c36cedeee4ed7b18cdaf22f96021f276	@DISEASE$ @PHENOTYPICFEATURE$ was present in all patients.	false
+e8d4fa7c09bbfad75627d0e1ff3815cd060d187d	@DISEASE$ @PHENOTYPICFEATURE$, however, is generally considered to be a minor factor.	false
+4ddca6ab0076a91adb28e9a9ebfedc69bbba3644	Examination of the hemostasis showed hypercoagulability due to @DISEASE$ pointing towards a common cause, namely @PHENOTYPICFEATURE$ of the earlier and recent clinical manifestations.	false
+1fb01dc64e07bd5880605038c0b3233c1bf43351	@PHENOTYPICFEATURE$ was diagnosed if @DISEASE$ steatosis index (HSI) >36, while fibrosis by using the FIB-4 score.	false
+59b45a22b2bafb6cea3b03e1bbc7eb103db89cc8	3. Pericellular fibrosis of liver cells, @DISEASE$ fibrosis and early @PHENOTYPICFEATURE$.	false
+101508e3d7eb1543c13474d0fa87c02b64df7146	Cholestasis leads to acute @DISEASE$ injury, fibrosis/@PHENOTYPICFEATURE$, inflammation, and duct proliferation.	false
+739d3e4c2bb158edb5e57db1821bef1a2d112738	@PHENOTYPICFEATURE$ @DISEASE$ in celiac disease.	false
+edac8e30418112b969d5b3346ff6443d63246ecc	Clinical manifestations include @DISEASE$ steatosis, neonatal @PHENOTYPICFEATURE$, focal nodular cirrhosis, multilobular cirrhosis, and biliary tract complications.	false
+d949686061efb981b5503091d41742a5e1fc5657	A combination of @PHENOTYPICFEATURE$ and @DISEASE$ fibrosis with manifestations of portal hypertension was present.	false
+8630cd6b554a1fd46376d1d0d0643c6f1e7e802e	Seven of the subjects had @DISEASE$ cirrhosis and three had @PHENOTYPICFEATURE$.	false
+ef186091ee36227bd9ffbbbfda957cf51b49288d	Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterized by a small thorax, @PHENOTYPICFEATURE$, renal and @DISEASE$ anomalies.	false
+28c347340679dd867125741ae17ac0e73e117a2c	Jeune syndrome or asphyxiating thoracic dystrophy is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by a small thorax, short-limbed dwarfism, renal and @DISEASE$ anomalies.	false
+ab54798e4ab7f5ba9f8f4c50c9a43e201fc448a2	Histologically, the renal lesion resembles @PHENOTYPICFEATURE$, and the @DISEASE$ lesion resembles congenital hepatic fibrosis.	false
+07fbd45676a50db2a2d39bca2818a03d9ac27da7	COACH syndrome is a disorder with @PHENOTYPICFEATURE$, oligophrenia, ataxia, coloboma, and @DISEASE$ fibrosis.	false
+1b21106518226bd2ebcf11ce2dbddd8417491127	@DISEASE$: @PHENOTYPICFEATURE$ in a first grade family member.	false
+45a01db250103e767908eca782355c7ff5f1fce5	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (@DISEASE$, COA), congenital cataract with microcornea or slight @PHENOTYPICFEATURE$, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+ba899fbc83dcdde1ec2dda45c495b3e79aa460d8	CT of severe inner @PHENOTYPICFEATURE$, including aplasia, in a case of @DISEASE$.	false
+e3f4a95db8337c752a9f28d53dc31cf6f0afc9af	[A rare case of endometrial neoplasm - a malignant mixed @DISEASE$ @PHENOTYPICFEATURE$].	false
+ffc7eea4d8154403e6f4fe593d21b1777dba239b	For patients with primary hepatic carcinoma exceeding the @DISEASE$ criteria, sorafenib may reduce or delay @PHENOTYPICFEATURE$ recurrence after liver transplantation and prolong patient survival, with tolerable side effects.	false
+d2a53bf9d1eaa79d7185f6cf17a9300e0ff3af7f	Among items of the @DISEASE$ criteria @PHENOTYPICFEATURE$ size had less impact on outcomes then number of foci.	false
+76303588798f20e0383c2878468688f3a5936a10	@DISEASE$-like syringoma is an unusual clinical variant of the @PHENOTYPICFEATURE$, and this is, to our knowledge, the first reported case occurring perianally.	false
+2470da5f3007d682444f0c3d594a9798f9d2d807	Outside @DISEASE$ criteria @PHENOTYPICFEATURE$, elevated AFP levels and the presence of PVT were significantly correlated with decreased survival.	false
+70690fe7c3727d8fb8c7f1bd45405db0ecfb5150	There were 20 @DISEASE$-Payne grade 1-3 @PHENOTYPICFEATURE$ and 14 grade 4 or 5 tumors.	false
+8175c12f2d370cb0af9ce0fac703959d65899196	There were 20 @DISEASE$-Payne grade 1-3 tumors and 14 grade 4 or 5 @PHENOTYPICFEATURE$.	false
+dd75ebe1ff73e8a59d61c4006d14a9d226d89a7c	Patients with @DISEASE$ criteria @PHENOTYPICFEATURE$ listed between January 1999 and June 2007 were stratified into RFA (n= 77) and No Treatment groups (n= 93).	false
+edd3d2188c3b0a09d884fef91807d7517bfcfbc7	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/@DISEASE$ (neuropathy, ataxia, and retinitis pigmentosum/maternally inherited Leigh syndrome) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+f9e3b41436a082827bacf05eaedafa687572ec6d	The major mitochondrial encephalomyopathies include MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes), MERRF (@PHENOTYPICFEATURE$ epilepsy with ragged red fibers), KSS/CPEO (Kearns-Sayre syndrome/chronic progressive external ophthalmoplegia), and NARP/MILS (neuropathy, ataxia, and retinitis pigmentosum/@DISEASE$) and they typically present highly variable multisystem defects that usually involve abnormalities of skeletal muscle and/or the CNS.	false
+1d9203977021d81759b06ca6c0ce922315e57698	In single cases the A3,243G mutation may be associated with maternally inherited diabetes and deafness syndrome, @PHENOTYPICFEATURE$ epilepsy and ragged-red fibers (MERRF) syndrome, MELAS/MERRF overlap syndrome, @DISEASE$, chronic external ophthalmoplegia, or Kearns-Sayre syndrome.	false
+5c15226918a7053f14c4c598e881b8681a0c8125	The analyses include individual @PHENOTYPICFEATURE$ data for 2.2 @DISEASE$ cancer patients.	false
+f8568c63316e98aa7ed413824f69c989ba432138	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis; (2) interferonopathies (@DISEASE$); and (3) others, including Keutel syndrome and Gaucher disease type IIIC.	false
+5d73086acfe7bf9bd0e7b78ec85f06be781164dc	The ocular manifestations of @DISEASE$ include periorbital and orbital inflammation, dacryoadenitis, conjunctivitis, episcleritis, scleritis, limbal nodules, peripheral ulcerative @PHENOTYPICFEATURE$, iritis, glaucoma, and choroiditis.	false
+4da13c0bd23035ef270483f7d2be0b556abf6c9f	A 76-year-old-man with history of @DISEASE$ presented with severe bilateral @PHENOTYPICFEATURE$ (Hertel value, 25?mm) with decreased visual acuity and evoked potentials lengthened.	false
+1c6c0bd44befb90ba011b9fc2c775358318e3a32	Prevalence of and factors associated with lumbar @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+334c40cb52f9f588d66a4a95dd29ce598139e18c	Anorexia, nausea, vomiting, @PHENOTYPICFEATURE$, malabsorption may affect patients suffering by @DISEASE$, systemic lupus erythematosus and other collagenophaties.	false
+14da24cb035a86bcd05d10a1b5b95f30ffb64a45	Anorexia, nausea, @PHENOTYPICFEATURE$, abdominal pain, malabsorption may affect patients suffering by @DISEASE$, systemic lupus erythematosus and other collagenophaties.	false
+8c56252929296aabe77a15bd517a27fa027ef5a4	@PHENOTYPICFEATURE$ and the differentiation of @DISEASE$ from rheumatic fever.	false
+7ffe236ee320b476198f8cd631b7bd1d09e32b58	@PHENOTYPICFEATURE$ are the most common conspicuous extra-articular manifestation of @DISEASE$ (RA).	false
+42092c384b19fc36d8fdb3380c5bb6c6d8cd7618	A 74-year-old woman with @DISEASE$ was admitted because of multiple @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+96115d232a28c593ff37fb2b8e6b175b24e978fe	@PHENOTYPICFEATURE$ excised from 10 patients with @DISEASE$ were examined.	false
+c33446d16c9c1c7a415df7b777990fe7daf33972	@PHENOTYPICFEATURE$ and stridor caused by laryngeal @DISEASE$.	false
+b6e61e2e815e330cb204db659df26a02a0128c0c	Two patients with @DISEASE$ developed @PHENOTYPICFEATURE$.	false
+4722e53a1df06d94ed378e4788d6427bac3e12d1	@PHENOTYPICFEATURE$ with sporotrichoid spread in the forearm of a patient with @DISEASE$.	false
+bf8ece20992dbee25fa5033f9852ec1b41db69b1	In addition to the typical feature of @DISEASE$, he had perceptive @PHENOTYPICFEATURE$, and abducens nerve and facial nerve palsies.	false
+b1e68ac0a8cc82c237ff713f713fcb2dfef6f33d	@PHENOTYPICFEATURE$ are unusual in the @DISEASE$.	false
+1cc1901e3935ad5e393354bf7dd9448cac799962	Of the 20 children (13 girls and 7 boys with the mean age of 8 years, ranging 2 months-12 years), eight of them have craniospinal pathologies (cerebellar tumors in three, exophytic brain stem glioma, eosinophilic granuloma of C2 vertebra, neuroenteric cyst of the spinal cord, Chiari type 3 malformation, arachnoid cysts causing brainstem compression, and cerebellar empyema), followed by osseous origin in five (congenital vertebral anomalies including hemivertebrae, blocked vertebra, and segmentation anomalies), two muscular torticollis (soft tissue inflammation due to subclavian artery catheterization, myositis ossificans with sternocleidomastoid muscle atrophy), and ocular (congenital cataract and @PHENOTYPICFEATURE$), @DISEASE$, paroxysmal torticollis, retropharyngeal abscess each in one patients were detected.	false
+bfb277885fcb95bc3a149093609360cc299a2dca	The complications were a recurrential palsy in a patient operated on for vagal paraganglioma; a recurrential palsy and temporary dysarthria in the patient affected by multiple familial @DISEASE$; another patient operated on for carotid body paraganglioma showed a cerebral ischemic lesion which caused a slightly transitory facial-brachial motor deficit on the right side and @PHENOTYPICFEATURE$.	false
+82214e624e6f9d494a2bf533ec1d943b9ba69efb	We describe the case of a 12-year-old girl with @DISEASE$ who developed impaired cardiac function, @PHENOTYPICFEATURE$, and shock at the time of admission.	false
+6fc52a64fdbf31a5cf7a0e981d4630dd984c0d30	The postoperative histopathology of the patients was leiomyosarcoma in nine, retroperitoneal fibrosis in three, and @DISEASE$, @PHENOTYPICFEATURE$, and dermoid cyst in three patients.	false
+43e8c6ef8abca81bbe737f1c8c19c7b10f11dcb5	Gangliocytic @DISEASE$ (GP) is generally considered to be a benign periampullary lesion, although it is unclear whether it should be classified as a @PHENOTYPICFEATURE$ or as a neoplasm.	false
+82616d3f7d236bd8f8477fa442b08f883ea1ea17	[Acute non-cardiogenic @PHENOTYPICFEATURE$ during resection of a bladder @DISEASE$ (pheochromocytoma)].	false
+364a4f903fbc3f2317148304a7e75f7d0cb37160	This paper describes the sixth affected patient, also a young woman, draws attention to the frequency of thoracic @DISEASE$ in the syndrome, and notes that the pulmonary cartilaginous lesion has frequently been misinterpreted as pulmonary @PHENOTYPICFEATURE$.	false
+8097afa14e5e660aead44d420ba02d35045a48fa	Here we present @DISEASE$, a novel disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, @PHENOTYPICFEATURE$, and autism.	false
+d4bbcf56c1e7343ff1872e412fe7e9116dc4e04e	LTCC dysfunction can result from structural aberrations within their pore-forming alpha1 subunits causing hypokalemic periodic paralysis and @PHENOTYPICFEATURE$ sensitivity (Cav1.1 alpha1), incomplete congenital stationary night blindness (CSNB2; Cav1.4 alpha1), and @DISEASE$ (Cav1.2	false
+3517e59974a91c7ca054f1eac93b7b7966f665cb	Recently a number of different red cell membrane @PHENOTYPICFEATURE$ have been identified in patients with @DISEASE$ (HE).	false
+bbdf397441174ab5114fec2c9d8a0ababc175c99	The increased levels of vWF:Ag and vWF:RCo observed in TES patients correlated with the @PHENOTYPICFEATURE$ like lesion of the skin, with the @DISEASE$ and with Raynaud's phenomenon (p less than 0.01), but not with other clinical manifestations.	false
+2497c691602203342c4e8299ee21e6e3029abeaa	The patients had various autoimmune disturbances: persistent neutropenia, immune thrombocytopenia, pure red-cell aplasia, Hashimoto's thyroiditis, @DISEASE$, systemic lupus erythemathosus, systemic @PHENOTYPICFEATURE$.	false
+1b42fa091d996af6a497fed2fbf0cad5205299fe	[Unilateral @PHENOTYPICFEATURE$ of the trigeminal nerve as the leading symptom of primary Sj?gren syndrome ("@DISEASE$")].	false
+76a679f249dfd4738b0b99bae7717e4c764fe17f	They subsequently developed peripheral neuropathy, joint contractures, scleroderma-like changes, Raynaud phenomenon, pulmonary @PHENOTYPICFEATURE$, @DISEASE$, and liver disease.	false
+d323ffb5dc89ddd3bbaf9348ba71a4d2816625f7	No correlation between cutaneous hepatic involvement, @DISEASE$, @PHENOTYPICFEATURE$ status, and autoantibodies could be established.	false
+d31c7fdef487ebfc8da453ceebcb1fb7373c8db2	@DISEASE$ is generally a benign and self-limiting disease, but complications can occur when the space that the @PHENOTYPICFEATURE$ occupies causes functional impairment.	false
+5bc440eff067ad6e2d1c0c1b646edf4adb402c54	@DISEASE$ (JXG) is a rare and benign @PHENOTYPICFEATURE$ in infants.	false
+264be8e560ed6f72fac2ab6987f144398c831bc1	@DISEASE$ is a histiocytic @PHENOTYPICFEATURE$ that usually appears at birth or during the first year of life.	false
+5ba9f418b80293c050aaf53bee7141e9c27f7e29	[@DISEASE$ in an infant in combination with familial @PHENOTYPICFEATURE$ (author's transl)].	false
+37692b458df404b4f4d0325aa651a9cfaebccba4	However, @DISEASE$ @PHENOTYPICFEATURE$ have been described in numerous noncutaneous anatomic sites, presenting with a variety of symptoms.	false
+458225430d9807be60de09857f6b93dd55f80e55	All @PHENOTYPICFEATURE$ were benign: apocrine cystadenoma, adult-onset @DISEASE$, mixed tumor, and chronic folliculitis.	false
+096d109647c68da368a6c627143830817ffbe2b0	The @PHENOTYPICFEATURE$ was resected, and the morphological and immunocytochemical appearances of the lesion confirmed the diagnosis of @DISEASE$.	false
+c93e28689ea011d092bc467f7ea0198cba17c380	Uveal @DISEASE$ (JXG) is a rare intraocular @PHENOTYPICFEATURE$ which usually occurs in very young children.	false
+aa3088a826b2b00cd8c2714f9efffcf5523e1442	@DISEASE$ is a benign histiocytic @PHENOTYPICFEATURE$ predominantly occurring in children as yellowish papules on the head and trunk.	false
+22080fec3d3c4c5587b76bf6d88bd6e942d68fad	Solitary @DISEASE$ mimicking intracranial @PHENOTYPICFEATURE$ in children.	false
+7dfc8fbd2bc8ee2452802426696d368c0f76cdba	@PHENOTYPICFEATURE$, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-@DISEASE$ syndrome.	false
+fb2fdae4b0c2a800fa3e38abdff9b4bf1e3b388b	A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with @PHENOTYPICFEATURE$, distinctive craniofacial features, @DISEASE$, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in 4 children from 3 families of New Mexican Hispanic heritage.	false
+27723beefe53290d1fb2a7ab02df14e2a865f0da	@DISEASE$ universalis, @PHENOTYPICFEATURE$, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.	false
+4ea8b9205331e9b1d30989ceffeff9e864c73b10	@PHENOTYPICFEATURE$ and lactic acidosis in a MALT @DISEASE$.	false
+f548cfa21d47518b8cd16e469b2883b275a2143d	Acute bilateral @PHENOTYPICFEATURE$ as a presenting symptom of @DISEASE$.	false
+9d5da2fb5fc7ab3b891b36fa418c1a921d1cd932	Angioimmunoblastic T-cell lymphoma (AITL) is a rare type of @DISEASE$ with systemic manifestations, including @PHENOTYPICFEATURE$, lymphadenopathy, rash, and rarely arthritis.	false
+1fc1a6f1f8147243ffa9c957977fedf7b9ffdd67	The case of an elderly immunocompromised man with @DISEASE$ who presented with @PHENOTYPICFEATURE$, abdominal pain and bloody diarrhea is described.	false
+bfa728cde66a6b6c0d11a00ed67ed7ead4554641	We apply this framework to the case of therapies aimed at treating AIDS, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+aa81454953397bc10697275e62c9a2287a0f5550	In patients with low-grade @DISEASE$, rituximab (MabThera) produces infusion-related toxicity, including @PHENOTYPICFEATURE$, rigors, and chills in greater than 50% of those treated.	false
+9b97e5466f232623d33371fc8f67a33ced4c56e7	The male patient, who was 37 years of age and undergoing therapy for @DISEASE$, was admitted with cough, @PHENOTYPICFEATURE$, dyspnea and acute hypoxemic respiratory failure.	false
+d449087e3b9625d833647087dda5da3969f0230f	Intensive combination chemotherapy administered to patients with @DISEASE$ (NHL) is inevitably associated with neutropenia and @PHENOTYPICFEATURE$.	false
+c672e1f821a09a258f8214c0abd34121a6d20b09	Our patient presenting with symptoms of shortness of breath and @PHENOTYPICFEATURE$, noncompliant with antiretroviral therapy was found to have a rare HIV-associated @DISEASE$ that carries a dismal prognosis.	false
+18408761fe1ee5ce248177718b2e8398f921b583	A case of a 7-year-old boy with common variable @PHENOTYPICFEATURE$ who developed B-cell-type @DISEASE$ is reported.	false
+2b2300c3035c2628a8fa701d734a66e6d6dc452a	The cardio-facio-cutaneous (@DISEASE$) syndrome is a newly recognized syndrome characterized by congenital heart defects, a particular facial appearance and abnormalities of hair and skin; apart from these, the most evident signs are mental retardation and other @PHENOTYPICFEATURE$.	false
+70ac8e2e27e4195636e90a637862b5a72606f418	Cardio-facio-cutaneous (@DISEASE$) syndrome is a very rare and sporadic disease whose characteristics include dysmorphic facial appearance, ectodermal abnormalities, cardiac abnormalities, growth retardation and @PHENOTYPICFEATURE$.	false
+c31992996eaab031f723a69735ee70c6911ea850	Other manifestations of @DISEASE$ to consider include a severe form of @PHENOTYPICFEATURE$; lymphocytic infiltration of the liver, evident as hepatitis; myositis; and lymphocytic interstitial nephritis.	false
+38da0087780294800a95fc26a7604f4aa9fb6b99	This report illustrates for clinicians the diverse extraglandular manifestations of @DISEASE$ and underscores the importance of considering it in the differential diagnosis of HIV-positive patients with a preserved CD4 count who present with @PHENOTYPICFEATURE$.	false
+0cdbea7ec75e7731597eb2aa4ce06f5b62a67301	@PHENOTYPICFEATURE$ characteristically manifests with vasculitic neuropathy while diffuse infiltrative lymphocytosis syndrome (@DISEASE$) involving nerves has not been reported from India.	false
+4d5abe357c6a5a525e0f2f81e4541fb2744ff5f8	Pena-@DISEASE$ is an autosomal recessive disorder characterized by arthrogryposis, facial anomalies (@PHENOTYPICFEATURE$), camptodactyly, polyhydramnios and lung hypoplasia.	false
+cc22f467d382ba946ab440d78e282a2e41a10fff	This is the first report of survival of a patient with @DISEASE$ without @PHENOTYPICFEATURE$.	false
+37370d885d65814fbf8dfa19adf05451e80395b9	Molecular and clinical study of 18 families with @DISEASE$ type II: evidence for genetic heterogeneity and de novo @PHENOTYPICFEATURE$.	false
+dc3b91fb730b0add3aa0415e2887041bb1594a73	Sanger sequencing confirmed the de novo @PHENOTYPICFEATURE$ p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the @DISEASE$-DN phenotype, in two other kindreds.	false
+4ac7cf36b9bac64423cfc969be46d76cf2ce49df	Lung adenocarcinoma (@DISEASE$) is the most prevalent subtype of lung cancer and characterized by considerable morphological and @PHENOTYPICFEATURE$ heterogeneity.	false
+765ef6f7f6e702d0f770a286436dcb56ef601107	Typically, HSP is considered to be self-limiting, although renal involvement (@DISEASE$ purpura @PHENOTYPICFEATURE$, HSPN) is the principal cause of morbidity from this disease.	false
+1ce778f96dd5fc1131101b301398529649930930	@DISEASE$ with @PHENOTYPICFEATURE$ and thin corpus callosum.	false
+cfa67b1dd2ad5d664460bf11ecd8f8d1d7b5e969	@DISEASE$ (HSP) is a @PHENOTYPICFEATURE$ group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis.	false
+58a65fa803e265affb6381460f418eea8a90116c	Hereditary spastic paraplegia (@DISEASE$) is a @PHENOTYPICFEATURE$ group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis.	false
+1c47ac0fe02c4c9d063f14cbc3a2b81730f5b297	A 13-year-old boy presented with signs of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3d83cb78127bad27fef87406cfbc26560ed358a7	CEs were not associated with complications in patients with @DISEASE$ and @PHENOTYPICFEATURE$ and intussusceptions.	false
+94e6fc5e7956563b344021e13cbbeac950679845	Diffusion tensor imaging in @DISEASE$ with @PHENOTYPICFEATURE$ and thin corpus callosum.	false
+52c7eada06a59f9a251e91deeefc56b1b605441a	Surgeons often are asked to assess patients with @DISEASE$ for @PHENOTYPICFEATURE$.	false
+01b872c52703fbbb897a381b23edfd8c2c5823f5	The mean sEPCR value in @DISEASE$ patients with severe @PHENOTYPICFEATURE$ was lower than without (88.8	false
+6f6979322fd2d6e45e2fb2e803d5582ef9f05ea8	In addition, a patient with @DISEASE$ usually complains of arthralgia and @PHENOTYPICFEATURE$.	false
+638c1e311aadd19170922559b9bb7694efe44a19	@PHENOTYPICFEATURE$ in families with pure autosomal dominant @DISEASE$.	false
+b0d59d9f4dd8772edc39ada455dfcf57e2ce2363	Lehman syndrome, or @DISEASE$, is characterized by facial dysmorphism, multiple lateral meningoceles, and @PHENOTYPICFEATURE$.	false
+ae1b5cb764c683614f62288d7d9de2722babfb97	@DISEASE$, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and @PHENOTYPICFEATURE$.	false
+077e6d8c8ffe9f2ac17bcd570151c13c0b5bfe11	Multiple lateral meningoceles, distinctive facies and @PHENOTYPICFEATURE$: a new case of @DISEASE$.	false
+e6fba2c22466a560580df92ebf815479431648da	Among them is a region at the centromeric boundary that contains candidate regions for several rare developmental disorders (X-linked recessive @PHENOTYPICFEATURE$, thoracoabdominal syndrome, albinism-deafness syndrome, and Borjeson-Forssman-@DISEASE$).	false
+11c54b8abb205e7833277080245d7fdfc8404dfd	p63 sterile-?-motif domain, AEC (@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting)-associated mutations are associated with a high prevalence of @DISEASE$ disorders, which are less common in EEC (ectrodactyly-ectodermal dysplasia-clefting) patients with DNA binding domain p63 mutations.	false
+a14a82516de70728644d00ee896982faecffe20b	A total of 30 patients presented with associated malformations: 9 with CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth()and mental development, genital hypoplasia, and @PHENOTYPICFEATURE$), 1 with Treacher-Collins syndrome, 1 with @DISEASE$ with facial cleft, 1 with Down syndrome, 12 with nonsyndromic malformations, and 2 with 22q11 microdeletion.	false
+7df065f8e65ed7c00b60ea4aad49b78bd837f661	To quantify the number of human immunodeficiency virus type 1 (HIV-1) proviral copies per 1,000 CD4+ cells in cerebrospinal fluid (CSF) and blood in relationship to stage of infection and HIV-1 neurologic disease (@DISEASE$), 87 HIV-1 seropositive men without CNS opportunistic infections, @PHENOTYPICFEATURE$, or neurosyphilis, 9 high-risk, and 14 not-at-risk seronegative controls underwent a structured interview, and physical and neurologic examination followed by blood and CSF collection.	false
+daf16c97dded23601a66cd0c73c73647087abaf4	Examination of the 3 children revealed a clinical picture of @DISEASE$ with ectropion, malformed ears and @PHENOTYPICFEATURE$.	false
+8bd368447fe026c1b5b2ac53d345667ae5611078	[Sj?gren-Larsson syndrome: @DISEASE$, mental retardation and @PHENOTYPICFEATURE$ (author's transl)].	false
+f7a47863af5ff63b560a3a48f411e6dc0a65034d	Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to defects in epidermal cornification in @DISEASE$ and acral peeling skin syndrome, respectively; loss of TG3 crosslinking in hair-cuticle formation leads to uncombable hair syndrome; the predicted loss of TG6 crosslinking leads to spinocerebellar @PHENOTYPICFEATURE$-35; and loss of the structural erythrocyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5.	false
+580890cb21d2f47d5f605eef41b919bc20a2b886	Patients with @DISEASE$ present a wide spectrum of symptoms such as headache, transient cortical blindness, @PHENOTYPICFEATURE$ and focal neurological deficits.	false
+64bb7d840a2ef14fd2e9600fe2e104cfe46a2f2b	Deficits in the Notch pathway are responsible for Alagille and @DISEASE$, which are associated with @PHENOTYPICFEATURE$ and dementia.	false
+7a692a7b9af1a923b0dc2afe337840802caa9a4b	Spinocerebellar @PHENOTYPICFEATURE$ and neurodegenerative diseases secondary to vascular insults (multiinfarction dementia, Binswanger's disease, @DISEASE$, and amyloid angiopathy) are beyond the scope of this discussion.	false
+3c965ca6cfe38733d70f34631d853df8b543a181	Occasionally, white matter lesions may represent a secondary cause for headaches such as CADASIL (@DISEASE$). CADASIL is underrecognized and underdiagnosed; it should be suggested by (i) 1 or more of recurrent subcortical ischemic strokes (especially before age 60 and in the absence of vascular risk factors), migraine (especially with aura, including atypical or prolonged auras) and/or early @PHENOTYPICFEATURE$ or subcortical dementia; (ii) bilateral, multifocal, T2/FLAIR hyperintensities in the deep white matter and periventricular white matter with lesions involving the anterior temporal pole, external capsule, basal ganglia, and/or pons; and (iii) an autosomal-dominant family history of migraine, early-onset stroke, or dementia.	false
+021c85d476aa1a4adfb608b62ebd3c35e021726f	Based upon the presence of mild psychomotor retardation, epilepsy and skeletal malformations, a sister can be considered an affected carrier, whereas an older brother showed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+65a744845ab5167b0f05496eee064a77e8325e40	Other complications include premature @DISEASE$, seizures, @PHENOTYPICFEATURE$, and cardiac arrhythmias.	false
+d4228c37d0b4cbbf19ce1ac4b4fef0fe16ab3c8b	They also reported a significant increase in @DISEASE$, use of antacids, muscle weakness, @PHENOTYPICFEATURE$, bruising, oral candidiasis, and having fewer teeth.	false
+a40ae6484f917638f2e157abaeec97caa78cfc2c	Abnormalities such as @DISEASE$ and @PHENOTYPICFEATURE$ are also typical of these diseases.	false
+7d7f525252839ccc30fa8b9b4456b95d72fdd8be	[A combination of familial spastic @PHENOTYPICFEATURE$, congenital @DISEASE$ and oligophrenia].	false
+df5c5de8c6211a294d12fbb7ffb337dcd8fa875f	Idiopathic hypoparathyroidism with @DISEASE$ and spontaneous hypocalcaemic @PHENOTYPICFEATURE$.	false
+0ab5e5cb54abbd32f48a1056506f00e2628353be	There were no @PHENOTYPICFEATURE$, but he had bilateral congenital @DISEASE$.	false
+2186267cecd9072f5b5814eec5ad7c47d152f6e9	Late sequelae have been @PHENOTYPICFEATURE$, first signs of nephrocalcinosis and bilateral @DISEASE$.	false
+a9c83fa087affe75c63c4d5973d417c0473c130c	6 patients (24%) had @DISEASE$ and 3 (12%) had @PHENOTYPICFEATURE$.	false
+b6ab9b2fcb15a91eab904db22d38eaa51b85732b	Postnatal evaluation revealed @PHENOTYPICFEATURE$ and systolic dysfunction, bilateral @DISEASE$, and mild facial dysmorphisms.	false
+65c9f6456fc53871765e7080be3c995cdc811dbc	A 19-year-old Indian girl presenting with intermittent tetany, enamel hypoplasia, bilateral @DISEASE$, and @PHENOTYPICFEATURE$ is described.	false
+27d40b50ac89f6d8316dc7ac8b479dcc1d573542	Investigation of the patients by questionnaire revealed such complications as obesity, striae atrophicae, @PHENOTYPICFEATURE$, headache, cataract, @DISEASE$, and cardiac complication in some patients.	false
+cc0a3208a45db78d1cef564b8cc5c622bd9fb2cb	The following manifestations were present: @DISEASE$, bilateral insertional polydactyly, @PHENOTYPICFEATURE$ and renal dysfunction.	false
+7a8f7aa88e19cd6c2a98e666f22a189e52d5456c	The following manifestations were present: @DISEASE$, bilateral insertional @PHENOTYPICFEATURE$, cognitive impairment and renal dysfunction.	false
+a4ada00097a2aec0b06558af6d714d072113482d	Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, polydactyly of hands and feet, @DISEASE$, hypogenitalism, various degrees of @PHENOTYPICFEATURE$ and renal anomalies.	false
+17c78e1b56a4f45f81131ca7315cc6a0cc619cdd	Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, @PHENOTYPICFEATURE$ of hands and feet, @DISEASE$, hypogenitalism, various degrees of intellectual impairment and renal anomalies.	false
+173db7420aabda51bf9ece85d5954a10f8343722	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, @DISEASE$, post axial @PHENOTYPICFEATURE$, cognitive impairment, renal anomalies and hypogonadism.	false
+e752b6722c16abe6e7504fe5a416188d415526f2	Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, @DISEASE$, post axial polydactyly, @PHENOTYPICFEATURE$, renal anomalies and hypogonadism.	false
+d858a00bc224ac7e174398b16308405ff1c4a756	The Bardet-Biedl syndrome (BBS) is a rare ciliopathy clinically defined by the association of @DISEASE$, polydactyly, obesity, kidney disease and @PHENOTYPICFEATURE$.	false
+dc55d7c8851fba2438168e22463f8bc33a6e5407	The Bardet-Biedl syndrome (BBS) is a rare ciliopathy clinically defined by the association of @DISEASE$, @PHENOTYPICFEATURE$, obesity, kidney disease and cognitive impairment.	false
+41b2ead2f039435f35ee136b7d541cf09f900adb	A 25-year-old woman with @DISEASE$ presented with @PHENOTYPICFEATURE$, interested in a second opinion.	false
+d3ccc31dcc38780aaaffabad86489a7e0c6a9058	Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset @DISEASE$, polydactyly, obesity, hypogonadism, renal and @PHENOTYPICFEATURE$.	false
+dd5d27110dab0506cee7739db9ec62cc65ff6c98	Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset @DISEASE$, @PHENOTYPICFEATURE$, obesity, hypogonadism, renal and cognitive impairment.	false
+5e33d865968ea50ae37074edc24eaecfde76dd8c	The cardinal signs were @DISEASE$, obesity and @PHENOTYPICFEATURE$.	false
+b7cc2c053a7d37f5a745ff5fa9436d8183f13ec1	We report a unique case of BBS in a 13-year old girl of African-American descent who presented with @DISEASE$, obesity, @PHENOTYPICFEATURE$, learning disabilities, precocious puberty, hypertension, renal cysts, and Hirschprung disease.	false
+f5f22d71f06780b14ff70ec0f36f18264def1110	We report a unique case of BBS in a 13-year old girl of African-American descent who presented with @DISEASE$, obesity, polydactyly, learning disabilities, precocious puberty, hypertension, @PHENOTYPICFEATURE$, and Hirschprung disease.	false
+139c4ba05afdb6784327e0abf048a5b815c6a30f	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, @DISEASE$, @PHENOTYPICFEATURE$, and polydactyly.	false
+e39164c2615671fdb35040eda9a7149fcbaeaabb	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in Joubert syndrome, a rare congenital disorder characterized by midbrain malformation, @DISEASE$, renal cysts, and @PHENOTYPICFEATURE$.	false
+64d78b9a4ac622b8f3218f1551f06098f8b91096	Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by @PHENOTYPICFEATURE$, @DISEASE$, obesity, cognitive impairment, and kidney dysfunction.	false
+05c7699c3204936935ac8245c38495c43e2d6611	Bardet--Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, @DISEASE$, obesity, @PHENOTYPICFEATURE$, and kidney dysfunction.	false
+8b90225afc62bb49c8e67388589cfdd5aa0628ac	Twelve-hour nocturnal GH secretion was studied in 30 children with familial @PHENOTYPICFEATURE$ (FSS), constitutional growth delay (@DISEASE$), total growth hormone deficiency (TGHD), partial growth hormone deficiency (PGHD), or idiopathic short stature (ISS).	false
+e770228d9d29ded0ff55b2f1a4db0a91ee025ebc	Twelve-hour nocturnal GH secretion was studied in 30 children with familial short stature (FSS), constitutional growth delay (@DISEASE$), total growth hormone deficiency (TGHD), partial growth hormone deficiency (PGHD), or idiopathic @PHENOTYPICFEATURE$ (ISS).	false
+7ca68d6e4194fc9805c44bb94fd8f38bf4e5b64e	Our study shows that BGP, ICTP and DPD/creatinine levels are significantly reduced in children with @DISEASE$, thus indicating the presence of low bone turnover in this form of @PHENOTYPICFEATURE$.	false
+57415b4d4542c64104beb3537514b1d00a868d9d	Thirteen children had chronic granulomatous disease (@DISEASE$), 4 had severe combined immunodeficiency (SCID), 4 had @PHENOTYPICFEATURE$, 2 had Ataxia telangiectasia, and one each had DiGeorge syndrome, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect.	false
+855062274cb6d3ecf9349abe83d613147db61a6b	Our results revealed the genetic and @PHENOTYPICFEATURE$ heterogeneity of the AR recessive form of @DISEASE$ in Tunisia.	false
+3008077564bfa2fb2a749041b2706dc35f7be27e	@PHENOTYPICFEATURE$ was observed in a boy suffering from Chronic Granulomatous Disease (@DISEASE$).	false
+ae4f3f428b672b0b048968146e1a7132e1f03705	@PHENOTYPICFEATURE$ was observed in a boy suffering from @DISEASE$ (CGD).	false
+0b0ef3902c33aa0be69dc7fdbc6ff1576066bfb6	Endocrinological causes accounted for 26% of short stature [of them, 11.8% had growth hormone deficiency (GHD)], 63.6% had normal variants of growth [of them, 42% had familial @PHENOTYPICFEATURE$ (FSS), 15.8% had constitutional growth delay (@DISEASE$) and 5.5% a combination of both].	false
+45b6492c4312a46a645cdc139995806f91dc8163	Endocrinological causes accounted for 26% of @PHENOTYPICFEATURE$ [of them, 11.8% had growth hormone deficiency (GHD)], 63.6% had normal variants of growth [of them, 42% had familial short stature (FSS), 15.8% had constitutional growth delay (@DISEASE$) and 5.5% a combination of both].	false
+08757cc93bad431a36918da16018eb0a0300c1ff	Severe phenotype of @DISEASE$ presenting in a female with a de novo @PHENOTYPICFEATURE$ in gp91-phox and a non familial, extremely skewed X chromosome inactivation.	false
+8abf2d687ebfd7fa9b0ca465ecffe103022af757	Constitutional growth delay (@DISEASE$) and familial short stature (FSS) were identified as the most common, 55% of all @PHENOTYPICFEATURE$ cases.	false
+b7ad616955a62af6e2f2f2112558a7623f0cad9e	Constitutional growth delay (@DISEASE$) and familial @PHENOTYPICFEATURE$ (FSS) were identified as the most common, 55% of all short stature cases.	false
+39a2a10c3b1404e65e9c3b91967aeec6c6dc7567	The effect of chronic clonidine administration on the height velocity of two groups of children with @PHENOTYPICFEATURE$ either familial (FSS) or with constitutional growth delay (@DISEASE$) is presented.	false
+4b27320f5b4209984a1a964dc191fafbe09d3845	@DISEASE$ and FSS are most common causes of @PHENOTYPICFEATURE$ in boys and girls respectively, whereas, GHD is a relatively uncommon etiology.	false
+74b0a2f67cf79c42237a47ec42f9ba63964c497c	A patient with @DISEASE$ combined with mental retardation and several congenital anomalies including @PHENOTYPICFEATURE$, dwarfism, microcephaly and right hydrocele testis is described.	false
+bcef8b67d5d1e3f020a483d313465c408f607015	Persistent tachycardia, paroxymal hypertension, and @PHENOTYPICFEATURE$: association with @DISEASE$, dominantly inherited microphthalmia, and cataracts.	false
+e8d799f49c96e5b8c1b6fb8457d0fd593792febd	We diagnosed a 22-year-old man with psychomotor retardation, rare @PHENOTYPICFEATURE$, hyperglycinemia, and @DISEASE$ as an atypical variant of nonketotic hyperglycinemia (NKH).	false
+bebd89289b946bebaab7811c0fc184ca4d599349	Diseases associated with mirrored OCBs included acute disseminated encephalomyelitis (ADEM), VGKC encephalopathy, West syndrome, NMDAR encephalitis, 'other' encephalitides, polio-like illness, Rasmussen encephalitis, @PHENOTYPICFEATURE$, @DISEASE$, and bacterial meningitis.	false
+7f10f56cac8e3054c365315ff3d07830e8149f12	Masker interaural phase and the @DISEASE$: effects of @PHENOTYPICFEATURE$.	false
+344f08d3a22cbab7fbb61467c3c349f3e2024d44	A patient with @DISEASE$ showed a decelerated disease progression and an improved peripheral neuropathy, but progressive @PHENOTYPICFEATURE$ was not prevented.	false
+b63aef14ed48cc58d0718df789fbadcb8d08da10	No significant difference was observed between the @PHENOTYPICFEATURE$ group and the controls on the @DISEASE$ task.	false
+75fcecdecffdf6bcf27b6ef6d0b9779877b78763	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+0676dfd4d95ac10a5d183fb0bdac03aec3322a77	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: @DISEASE$, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+1edcd548c7b7fac6e772983ff93fd5d0c9e39405	These results provide correction factors for the normal @DISEASE$ range as functions of boundary frequency of sensorineural loss above 500 Hz and degree of both symmetric and asymmetric sensitivity loss at 500 Hz in both subjects with @PHENOTYPICFEATURE$ and those with sensorineural hearing loss.	false
+e832c9646875404aeebdeb7fde3e1b97bf740334	These results provide correction factors for the normal @DISEASE$ range as functions of boundary frequency of sensorineural loss above 500 Hz and degree of both symmetric and asymmetric sensitivity loss at 500 Hz in both subjects with conductive hearing loss and those with @PHENOTYPICFEATURE$.	false
+a7a1d8d1dd3d9247c99712e6ccbb48f678540e53	Adult @DISEASE$ and pes cavus @PHENOTYPICFEATURE$.	false
+0ddb1ceefdbc6c707aba9c9f2067f082e196cc04	The effects of both symmetric and asymmetric peripheral hearing loss on the masking level difference (@DISEASE$) at 500 Hz were studied in 651 subjects with conductive or @PHENOTYPICFEATURE$ and 270 normal controls.	false
+303f60a6793f98265b90cdf0b9ebcd5c82e2f57a	Data about the impact of peripheral neuropathy in @DISEASE$ patients are currently lacking, although in our experience peripheral neuropathy causes significant morbidity due to neuropathic pain, @PHENOTYPICFEATURE$ and neurogenic bladder disturbances.	false
+ce276e91cdba77b9ccbd41d69d2512bef8086b1c	Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and @DISEASE$.	false
+b2c41d46a4e503afee2e44a5f5032ef0a2b1d964	The most frequent findings were in oxidative phosphorylation disorders (21 cUS and 12 MR imaging): ventricular dilation (11 cUS and 6 MR imaging), germinolytic cysts (GLCs; 7 cUS and 5 MR imaging), and abnormal white matter (7 cUS and 6 MR imaging); in @DISEASE$ (13 cUS and 9 MR imaging): GLCs (10 cUS and 6 MR imaging), @PHENOTYPICFEATURE$ (10 cUS and 5 MR imaging), abnormal cortical folding (8 cUS and 7 MR imaging), and lenticulostriate vasculopathy (8 cUS); in amino acid metabolism and urea cycle disorders (14 cUS and 11 MR imaging): abnormal cortical folding (9 cUS and 4 MR imaging), abnormal white matter (8 cUS and 8 MR imaging), and hypoplasia of the corpus callosum (7 cUS and 6 MR imaging); in organic acid disorders (4 cUS and 2 MR imaging): periventricular white matter echogenicity (2 cUS and 1 MR imaging); and in other disorders (3 cUS and 1 MR imaging): ventricular dilation (2 cUS and 1 MR imaging).	false
+8312d14c423b8ba392a19ad8837ff15b01ea99c3	@DISEASE$ is for the first time reported in association with visual @PHENOTYPICFEATURE$ and surface dysgraphia.	false
+e3f02ce52120e610b08d45820df360995514cb24	We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both St?ve-Wiedemann syndrome and @DISEASE$. The baby had, in addition, @PHENOTYPICFEATURE$.	false
+de484d26ba73a35bf9b20f8fa1d3de7462262e2e	In histopathological analyses, cisplatin-induced retinal damage included atrophy and disorganization on outer segment, degeneration and detachment of RPE and PL from @DISEASE$ and @PHENOTYPICFEATURE$ of INL and IPL, total degeneration of GCL; while cisplatin-induced retinal damage was determined to be significantly prevented with 0.5?mg lutein treatment on histopathological evaluations.	false
+d62677d0b66090e309b93a714cfeed8e8ca54443	We report a case of a giant retroperitoneal @DISEASE$ presenting like continuous left hemiabdominal @PHENOTYPICFEATURE$ because of the visceral compression.	false
+bc21b4e22391d922850d98605531650ed814eaf9	The @DISEASE$ (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further @PHENOTYPICFEATURE$ such as cortical blindness, spasticity, dementia and mental retardation.	false
+e873c7ad63b32a3753ce56ed81f1695bb8a72fb1	Hereditary pancreatitis is a rare inherited form of pancreatitis, characterized by recurrent episodes of acute pancreatitis with early onset and/or @DISEASE$, and presenting brittle diabetes, composed of episodes of nonketotic @PHENOTYPICFEATURE$ and severe hypoglycemia.	false
+e8aac45ff66123511c64f07e3302d7e34a42c4b2	Inroduction: The most common reasons of @DISEASE$ are alcohol abuse, biliary tract and liver diseases, stomach and duodenum, @PHENOTYPICFEATURE$, which is often associated with metabolic syndrome.	false
+9b71b38710b01b76b2014b4778c3a455ea4c252e	The Cox regression model was applied to compare the adjusted hazards for potential confounders.After controlling for age, sex, urbanization level, socioeconomic status, chronic liver disease, hypertension, coronary artery disease, @PHENOTYPICFEATURE$, malignancies, smoking, chronic obstructive pulmonary disease, obesity, history of alcohol intoxication, chronic renal insufficiency, biliary tract disease, @DISEASE$, Charlson Comorbidity Index score, and high-dimensional propensity score, the adjusted hazard ratio of pancreatic cancer was 2.53 (95% confidence interval 1.96-3.26) in patients with diabetes.	false
+e6c05855271bc5b59c3e9dec674f1857d59f4a95	Death from any of the following causes: cancer of lip, oral cavity, pharynx, oesophagus, colon, rectum, liver, larynx, and breast, essential @PHENOTYPICFEATURE$, coronary heart disease, stroke, cirrhosis, non-cirrhotic chronic liver disease, @DISEASE$, and injuries.	false
+23132b1ed675aef2b69a56d4c728ee54d9a0fd63	@DISEASE$ is a rare disease in children and is usually secondary to underlying diseases such as hereditary pancreatitis, cystic fibrosis, @PHENOTYPICFEATURE$, prolonged malnutrition, gallstones or anomalies of the biliary-pancreatic duct system.	false
+efedf60178dc9ca5fe2c0606685ec0fa267fc150	The aim of this study was to examine and compare the character of vegetative, antioxidant, kallikrein-kinin system and parameters of endogenous intoxication disorders in the patients with isolated essential @PHENOTYPICFEATURE$ and with combination of hypertonic disease and @DISEASE$.	false
+73f77dfc08c8ec5c0e45a8e76080dfe02b0f98c1	In many rare causes leading to @DISEASE$ among other are: @PHENOTYPICFEATURE$, hyperlipoproteinemia, some drugs and pancreatitis associated with autoimmune disorders.	false
+7054540f6a9d7a7f96ac5204783baa45330d6108	The age of the patients, and size, mean apparent diffusion coefficient (@DISEASE$) value, and histologic features of the tumors were compared with those of patients without @PHENOTYPICFEATURE$.	false
+9bce7928baa817ba4aed4cce967484c416362f39	Fractional anisotropy (FA) and apparent diffusion coefficient (@DISEASE$) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with @PHENOTYPICFEATURE$ and 12 with mild ventriculomegaly.	false
+caa2d12334e58844eb9e2cef165b159434a61343	Lateral ventricular volume was significantly increased over control at all time points after induction and the periventricular apparent diffusion coefficient (@DISEASE$) value significantly increased after one and two weeks of @PHENOTYPICFEATURE$.	false
+a6ab2849caf814c90876ac36b016fbe709a13988	The size and @DISEASE$ value of the tumor were significantly related to the association with @PHENOTYPICFEATURE$.	false
+450006d51f38a8039aff8ee864ba54800781a3c6	The?increased tumor @DISEASE$ value was considered to be the result of degenerative change and suggested the involvement of protein sloughing in the etiology of the associated @PHENOTYPICFEATURE$.	false
+07e2b78137a5ee70fe172be5be817eae30ec9686	In contrast, both groups that experienced prolonged @PHENOTYPICFEATURE$ (LTDC and DWC) had broad distributions of best ITDs around the midline, unlike the more focused distributions biased toward contralateral-leading ITDs present in both @DISEASE$ and normal-hearing animals.	false
+4328588e74ae4b1db4092ae8a7c048bdcb3116cf	Grade 3 or 4 World Health Organization neutropenia occurred in 51% of @DISEASE$ in 28%, anemia in 7%, stomatitis in 5%, and diarrhea, and @PHENOTYPICFEATURE$ in 2%.	false
+bceed040224f10e411fff0c4c4bb7c251a22eff9	The following rates were also calculated: complete response rate (CR): 2.9%; partial response rate (PR): 35.9%; stable disease rate (SD): 41.2%; overall response rate (OR): 34.6%; disease control rate (DCR): 76.7%; progressive disease: 23.1%; and grade III/IV adverse events (AEs): neutropenia 23.1%, febrile neutropenia 4.8%, @DISEASE$.8%, anaemia 5.7%, fatigue 11.5%, nausea 9.1%, diarrhoea 10.1%, @PHENOTYPICFEATURE$ 5.7%, neuropathy 3.8%, and increased ALT 5.7%.	false
+005ba30f4c4de503528c7621a950364074567738	@DISEASE$ is an autosomal-dominant disorder characterized by multiple joint dislocations, @PHENOTYPICFEATURE$ and dysmorphic facies.	false
+e1810bc554a556a3af0a43f51d43b09bbcb06c2f	@DISEASE$ (SADDAN) is an extremely rare severe @PHENOTYPICFEATURE$ characterized by significant developmental delay, brain structural abnormalities, hearing loss, and acanthosis nigricans.	false
+701bb2216e7193d802cba5dcd4d80f0b88dac8d2	Familial Alzheimer's disease (FAD) tends to present with more prominent neurological symptoms including @PHENOTYPICFEATURE$ than sporadic Alzheimer's disease (@DISEASE$).	false
+43408be0d9c1f65b69d10f10c6cfcaf203bd8498	Acanthosis nigricans might be seen in severe @PHENOTYPICFEATURE$, including thanatophoric dysplasia and @DISEASE$ syndrome, without a biochemical evidence of hyperinsulinemia.	false
+76c2f591c895c1e4ab5a49e39cf9604c44768cd6	Secalonic acid D (@DISEASE$) induces @PHENOTYPICFEATURE$ in the developing mouse by an unknown mechanism.	false
+49421049c6511689755706b4ec5a6e07c0c6b32f	The right amygdalar @PHENOTYPICFEATURE$ presenting with symptoms of separation anxiety disorder (@DISEASE$): a case report.	false
+6e60986539e0dcfe322d3be29f54e5e6b049bb21	Finally, subtract and add algorithm (@DISEASE$) is used as a calibration algorithm in @PHENOTYPICFEATURE$ detection system.	false
+864793761bd5cd3a31b9f2a4de5dc344d2632848	Nevertheless, patients with @DISEASE$-APS and @PHENOTYPICFEATURE$ only represent 2% to 5% in hemodialysis or transplantation.	false
+8ad8e1ada23d30b3e37c23cd8172a79004f62c7c	@DISEASE$ (SADDAN): phenotypic analysis of a new @PHENOTYPICFEATURE$ caused by a Lys650Met mutation in fibroblast growth factor receptor 3.	false
+c4e6c70ef2865d245320254a57eb3f260a4d4f5a	Induction of @PHENOTYPICFEATURE$ (CP) by @DISEASE$ in mice occurs from a reduction in the size of developing palatal shelves.	false
+22171095eb7c4ee8d350914963e10d3db7c0907f	To our knowledge, this is the first report of @DISEASE$ as one manifestation of the amygdalar @PHENOTYPICFEATURE$.	false
+5ee7401f98039795b14ce12931c69ca74580a82d	Postsurgical gains were determined by higher presurgical performance and @PHENOTYPICFEATURE$ vs @DISEASE$.	false
+e33c2005001bdf9655731aae9180fe9f9867fc28	Etiology comprised focal cortical dysplasia (@DISEASE$) in 71% and benign @PHENOTYPICFEATURE$ in 16% cases.	false
+0ceebf781e586c5f5df27d89fb58c384c6c8989a	In addition, we compared patients with tumor-associated focal cortical dysplasia (@DISEASE$) and patients with solitary @PHENOTYPICFEATURE$ to identify factors correlated with FCD diagnosis.	false
+d6c24a901c218bbab3a684482c8c7127b0823508	In addition, we compared patients with @PHENOTYPICFEATURE$-associated focal cortical dysplasia (@DISEASE$) and patients with solitary tumors to identify factors correlated with FCD diagnosis.	false
+f24fc6d977f93e600ebbd834d12a5322f957f25b	In addition, we compared patients with tumor-associated focal cortical dysplasia (FCD) and patients with solitary @PHENOTYPICFEATURE$ to identify factors correlated with @DISEASE$ diagnosis.	false
+bc1e8184c1e114cc84063004a2c67ae846e202d1	In addition, we compared patients with @PHENOTYPICFEATURE$-associated focal cortical dysplasia (FCD) and patients with solitary tumors to identify factors correlated with @DISEASE$ diagnosis.	false
+b0446c4f1e5210fc7b54ce9cb6d386c2431f1d70	C-methionine PET imaging, @PHENOTYPICFEATURE$ show a hot uptake, whereas @DISEASE$ does not.	false
+225f8e28794e64d6c391036b2f8d3192a2405d86	In comparison to patients with @DISEASE$ I associated with hippocampal sclerosis, MCD or @PHENOTYPICFEATURE$, the patients with isolated FCD I had a worse post-surgical outcome (46% in class I).	false
+cf88efc3cb968d1c53aad474016593a0a0d4cd6f	In comparison to patients with FCD I associated with hippocampal sclerosis, MCD or @PHENOTYPICFEATURE$, the patients with isolated @DISEASE$ I had a worse post-surgical outcome (46% in class I).	false
+7427aa69240de36ca4ec117a9d84fdf9002817e8	The GM-only lesion detection rate was equal for @DISEASE$ and @PHENOTYPICFEATURE$ at 5/8, whereas the best combined GM/WM technique detected 8/8 FCD and 6/8 neoplasia.	false
+189c8550c07d99932317f9c68ae79aa6aa71cb44	The GM-only lesion detection rate was equal for @DISEASE$ and neoplasia at 5/8, whereas the best combined GM/WM technique detected 8/8 FCD and 6/8 @PHENOTYPICFEATURE$.	false
+8d555e325b8c15d2723e71cfb22de5c768a85c82	The GM-only lesion detection rate was equal for FCD and neoplasia at 5/8, whereas the best combined GM/WM technique detected 8/8 @DISEASE$ and 6/8 @PHENOTYPICFEATURE$.	false
+09b6beb7b8c4ecd4837b3479ada3a47b04adb696	The GM-only lesion detection rate was equal for FCD and @PHENOTYPICFEATURE$ at 5/8, whereas the best combined GM/WM technique detected 8/8 @DISEASE$ and 6/8 neoplasia.	false
+9e2b6a3c1be7dce7631fb3eabdd8c0f3d58077d3	No significant differences and much overlap were seen between the ultrasound velocities of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a03bd855d3df298983750a98cf652c4b5ed13c18	years; mean+/-S.D.) with epilepsy and focal cortical dysplasia (@DISEASE$) or @PHENOTYPICFEATURE$.	false
+617902f09b4c9ed7bd2e37088e49a86f6b1f13f6	The patients were divided into five sub-groups: i) 66 with isolated @DISEASE$ I, ii) 76 with FCD I and hippocampal sclerosis, iii) 49 with FCD I and @PHENOTYPICFEATURE$, iv) 16 with FCD I and other malformations of cortical development and v) eight with FCD I and anoxic-ischaemic or inflammatory diseases.	false
+aae2b0f7c26a3e36154a878e79108f6e8a4f637b	The patients were divided into five sub-groups: i) 66 with isolated FCD I, ii) 76 with FCD I and hippocampal sclerosis, iii) 49 with @DISEASE$ I and @PHENOTYPICFEATURE$, iv) 16 with FCD I and other malformations of cortical development and v) eight with FCD I and anoxic-ischaemic or inflammatory diseases.	false
+0bc30ae0d677515d3176e385dd137d268e4a9d5e	The patients were divided into five sub-groups: i) 66 with isolated FCD I, ii) 76 with FCD I and hippocampal sclerosis, iii) 49 with FCD I and @PHENOTYPICFEATURE$, iv) 16 with @DISEASE$ I and other malformations of cortical development and v) eight with FCD I and anoxic-ischaemic or inflammatory diseases.	false
+f7b6d00fe83cfbb910081159d1d8513016385575	The patients were divided into five sub-groups: i) 66 with isolated FCD I, ii) 76 with @DISEASE$ I and hippocampal sclerosis, iii) 49 with FCD I and @PHENOTYPICFEATURE$, iv) 16 with FCD I and other malformations of cortical development and v) eight with FCD I and anoxic-ischaemic or inflammatory diseases.	false
+4f9c62880b6b5fcfe223a54facf183d2d8a5f970	The patients were divided into five sub-groups: i) 66 with isolated FCD I, ii) 76 with FCD I and hippocampal sclerosis, iii) 49 with FCD I and @PHENOTYPICFEATURE$, iv) 16 with FCD I and other malformations of cortical development and v) eight with @DISEASE$ I and anoxic-ischaemic or inflammatory diseases.	false
+23e7c7fe40fc142b05990b957be4649e4261aaee	The @DISEASE$ diet reduced @PHENOTYPICFEATURE$ load independent of Shmt1 genotype.	false
+8c29747e0691a6dea259f049c0dc6c27a7efa2b5	Our studies have provided new insight to @DISEASE$, Brachydactyly Type B1, and @PHENOTYPICFEATURE$ which are caused by mutations in human ROR2, WNT5A, or VANGL.	false
+f61dd869a96d69da9edb4f30641955c271dbdc5a	Our work also provides important insights in disease like @DISEASE$, brachydactyly type B1 (BDB1) and @PHENOTYPICFEATURE$, which can be caused by human mutations in the Wnt/PCP signaling pathway.	false
+08e6f6578a2f9e470bf08cf0778af6d64606d7b6	We have studied a boy with a particular clinical picture of @PHENOTYPICFEATURE$, @DISEASE$, early eruption of teeth, and syndactyly of hands.	false
+aa64591695d32a7f878a7bff375acf4c59d87b53	We have studied a boy with a particular clinical picture of mental retardation, @DISEASE$, early eruption of teeth, and @PHENOTYPICFEATURE$ of hands.	false
+e81c288be4a6df060922092e968558b631c0b98d	@DISEASE$, @PHENOTYPICFEATURE$, and retinal degeneration in two siblings.	false
+f4841fd45d07417785fc8c170b078a0d083624f8	ADULT syndrome is characterized by ectrodactyly, @PHENOTYPICFEATURE$, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, @DISEASE$, and onychodysplasia.	false
+f9261c5638ee00dac564a3bedbfcccf9d3abc1d5	The third patient is a boy with a peculiar face, @DISEASE$ and pili torti; he was mentally retarded and had @PHENOTYPICFEATURE$.	false
+4c76b856d86ec265849421b51a309ee021b0c171	The third patient is a boy with a peculiar face, @DISEASE$ and pili torti; he was @PHENOTYPICFEATURE$ and had epileptic seizures.	false
+395a5d60a79fdbbeb54da9797dad1e2271d02a92	ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, @PHENOTYPICFEATURE$ type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and @DISEASE$.	false
+653350dab43f4f188f32821b2f931d23f1745846	Clinical findings included @DISEASE$, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, @PHENOTYPICFEATURE$, and acanthosis nigricans.	false
+47a9e5dd46c619ad07fa7b7f1a35ce544c15659f	A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, @PHENOTYPICFEATURE$, and @DISEASE$ in two consanguineous Arab families.	false
+dc8dfbddb0e4e711005403ef7b769cd7737768ef	@PHENOTYPICFEATURE$, @DISEASE$ and syndactyly: a new entity?	false
+92f455d8135d13aaf701e3b0ed4ce0880e6ee41f	Mental retardation, @DISEASE$ and @PHENOTYPICFEATURE$: a new entity?	false
+de426df46fb56b19bfe7032078801af21491c2aa	This condition is chiefly characterized by congenital @DISEASE$, peculiar facial gestalt, short metacarpals, interphalangeal swelling, and growth and @PHENOTYPICFEATURE$.	false
+73db16777dab241f4e7e5fa2e171e592411fd7dc	Congenital generalized melanoleucoderma associated with hypodontia, @DISEASE$, stunted growth and @PHENOTYPICFEATURE$ occurring in two brothers and two sisters.	false
+55d2e59a1304cc60e9cdcbb3da50eee5bbdf98be	Several complications, such as disseminated intravascular coagulation, @DISEASE$, acute renal failure and @PHENOTYPICFEATURE$ are mentioned together with basic elements for prevention and treatment.	false
+cbb347480e9f9bc6390e91b99284b2e41c9a6824	Preincubation of mouse splenocytes with anti-laminin serum led to a decrease in their @DISEASE$ towards @PHENOTYPICFEATURE$ cells-targets (CT), the NKA activity decreasing 2 times with respect to cultivated cells of rat hepatoma HTC, while 10 times - to cultivated cells of human erythroblastosis K562.	false
+b3d7005b11bfe0301d4ffa8968e1b4076bc3de3e	Polysomnographic documentation of @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+8645620379dd8d0da2b3c14e848e98d4fc57b202	The clinical manifestation of the anti-IgLON5 disease is very heterogeneous mostly including a sleep disorder with non-rapid eye movement (REM) sleep @PHENOTYPICFEATURE$ and REM behavior disorder besides @DISEASE$ and stridor.	false
+11cea74599526a05ac813f50e5bda46b5d2344f2	Three (7%) patients with epilepsy were found to have mild or moderate @DISEASE$-hypopnea syndrome (OSAHS) and three (14%) patients with dissociative @PHENOTYPICFEATURE$ had mild or moderate OSAHS.	false
+4e21ff2123424426a1adf0a6ff9069166f1c67e4	Many countries started to allow medicinal use of marijuana due to its beneficial effect in managing chronic pain, @PHENOTYPICFEATURE$ symptoms in multiple sclerosis, @DISEASE$, fibromyalgia, and posttraumatic stress disorder.	false
+784ea330d9f0de6db0577fa703edee0d1f4d3dd5	We describe an obese child with severe @DISEASE$ in whom nocturnal frontal lobe @PHENOTYPICFEATURE$ developed within a week after therapy was started with continuous positive airway pressure.	false
+7e3be28ee7c4330d63fc58d7a7d6b12f142d240c	Both @PHENOTYPICFEATURE$ and anatomic abnormalities have been implicated in the pathogenesis of the @DISEASE$ (OSAS).	false
+7c3017c945de6d43f2888f196a192612fcfc4b05	Marijuana has a high beneficial effect in managing chronic pain in adults and relieving @PHENOTYPICFEATURE$ symptoms in multiple sclerosis, @DISEASE$, and fibromyalgia.	false
+caa5b65e9d5af4daee2307b80bc1fde360fc18e1	@DISEASE$ and @PHENOTYPICFEATURE$ occurring during sleep also play an important role.	false
+cb3b70ce26ce339ba5a32cbb7a7cd0e8ef4db7c0	Anti-PM-Scl antibodies are associated with @DISEASE$-@PHENOTYPICFEATURE$ overlap or either disease alone.	false
+406e14c35bbf32b99b2e69f0737935ebb3332f22	@PHENOTYPICFEATURE$/@DISEASE$ overlap syndromes and their immunologic markers.	false
+029ec344ea72d082150d64b1ac49fa2177cfa721	Immunolocalization and partial characterization of a nucleolar autoantigen (PM-Scl) associated with @DISEASE$/@PHENOTYPICFEATURE$ overlap syndromes.	false
+365d9f3899edca19548b10d485b9eb1fa31ba2be	Rheumatic fever, juvenile idiopathic arthritis, systemic lupus erythematosus, ankylosing spondylitis/spondyloarthritides, juvenile @PHENOTYPICFEATURE$, juvenile dermatomyositis/@DISEASE$, Kawasaki disease and other autoimmune vasculitides are the commonest pediatric systemic autoimmune diseases with heart involvement.	false
+2ae25cef24cbcd46f11dd119bf612493d189dbd9	Precipitating anti-PM-Scl antibodies are present in sera from patients with polymyositis, scleroderma, and @DISEASE$/@PHENOTYPICFEATURE$ overlap syndromes.	false
+a2c815d686c7898ea04362703547f03864524924	CC is a well-known clinical phenomenon in patients with generalized neuromuscular disorders like @DISEASE$, myasthenia gravis or motor neuron diseases, and it is also described in the context of @PHENOTYPICFEATURE$ like Parkinson's disease (PD) or multiple system atrophy.	false
+cae2e5f6ad7260edd3dc2c79a70d4df4f56e68e7	The genetically dystonic (dt) rat, an autosomal recessive @PHENOTYPICFEATURE$, exhibits a progressive @DISEASE$ that resembles the generalized idiopathic dystonia seen in humans.	false
+cbb0778491043db89cca4ea0afc61d8c285b6036	Monogenic syndromes were identified in 6% (12/204) of CL?P cases: @DISEASE$ (2 cases); CHARGE syndrome (2 cases); @PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case).	false
+6eb0d01a552eaa2cedadcf6983f4922d8877ed6a	The TAX-1 gene has been mapped to a region on chromosome 1 that has been implicated in @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+c83b548c0059df9c1e70c9df6ae8c82ef8db2616	Localization of the human TAX-1 gene to 1q32.1: a region implicated in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7ceab31028997bf1fa4e2c5411ec3549906bdf95	A 46-year-old man with @DISEASE$ presented with a rare case of hemophilic pseudotumor in the temporal bone manifesting as severe @PHENOTYPICFEATURE$ and external ear bleeding.	false
+ff3c7c7013925ea8965ebf09343ed880e168bb3a	The use of FEIBA (factor eight inhibitor bypassing activity) in @PHENOTYPICFEATURE$ extraction in @DISEASE$ patient with inhibitor.	false
+c9794661329a5bbf096cf663c369c72bbddaedfa	Plasma exchange was performed on a patient with @DISEASE$ and inhibitor to factor VIIIC prior to bilateral @PHENOTYPICFEATURE$ removal.	false
+e782d53a60e0516a493f94254206af321a5829e9	@DISEASE$ prevented obesity-associated cardiac @PHENOTYPICFEATURE$ and insulin resistance, and reduced NADPH oxidase-dependent ROS production.	false
+cd04bb8cb8fe5213f2e107376ab0be7ccfb7029e	A mouse @PHENOTYPICFEATURE$ angiogenesis model revealed enhanced PKD-1 signaling and expression of ephrin B2 and smooth muscle actin in neovessels of Lewis Lung Carcinomas, along with low-CD36 expression or @DISEASE$.	false
+09407911ffb8e15b36472510f27750c2d5452505	Causes included benign positional paroxysmal vertigo (BPPV, 13 patients), headache-associated vertigo (9), @DISEASE$ (7), cervical vertigo (3), psychiatric dizziness (2), post-traumatic vertigo (2), vertebro-basilar transient ischemic attack (1), vestibular neuritis (1), convulsive @PHENOTYPICFEATURE$ (1), and presyncope (1).	false
+dd7279b6c77fc84e32beceac87230f3734cb51e7	Previous neuroanatomical examination of a BXD29 recombinant inbred strain (BXD29-Tlr4(lps-2J)/J) revealed @DISEASE$ consisting of bilateral subcortical nodular heterotopia with partial @PHENOTYPICFEATURE$.	false
+16f770a8d40b5417791866cf56c144fc4078384d	@DISEASE$ are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from @PHENOTYPICFEATURE$ to autism and epilepsy.	false
+886dc3fe983e7125feb8ec9a6e887bc393169de2	We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and @DISEASE$: two infants with nodular interhemispheric lipoma, @PHENOTYPICFEATURE$, and polymicrogyria, and one infant with interhemispheric curvilinear lipoma, hypoplasia of the corpus callosum, and heterotopias.	false
+16b8f4d623f61acee37576cb3c55efdc26191150	These results indicate that @DISEASE$ show spectroscopic features of primitive tissue and @PHENOTYPICFEATURE$ of both inhibitory and excitatory neurotransmitters.	false
+ec880f281ae70adac80b067e092a418f68f2f064	Malformations of cortical development (@DISEASE$) are frequently associated with neurological conditions including @PHENOTYPICFEATURE$, autism, and epilepsy.	false
+f5a770958c7ded5226765e5ee1fea03d8ea2351f	To describe the neurological phenotype of children with prenatal diagnosis of @PHENOTYPICFEATURE$ (ACC) and interhemispheric cysts associated with malformations of cortical development (@DISEASE$).	false
+9b7f8da1384efe8260dcfbfdbd834793fe6d7190	In group 2, 6 patients (32%) had a family history of @DISEASE$, @PHENOTYPICFEATURE$, or miscarriages, suggesting a genetic predisposition.	false
+cf24800e1a1a4f933703b33d56cd133309b7cb18	Malformations of cortical development (@DISEASE$) with polymicrogyria and schizencephaly are due to abnormal cortical organization and usually manifest by intractable epilepsy and @PHENOTYPICFEATURE$.	false
+55fffe229a055324d856d429299353230a26d0bd	We herein report a case of atypical @DISEASE$ associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular @PHENOTYPICFEATURE$, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation.	false
+1fd27ed2b5e4a3273d21bf48b97cbac59e4481ff	@DISEASE$ is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+9557799436854132a7e9473f3b2930b03eba9454	To review the types of motor @PHENOTYPICFEATURE$ that may occur with PPA, its primary variants, and its overlap syndromes (@DISEASE$ syndrome, corticobasal syndrome, motor neuron disease), as well as with primary progressive apraxia of speech.	false
+5d3ece12086b6520fed8e317ed08d4e831e5fb56	@PHENOTYPICFEATURE$ encephalopathy and @DISEASE$.	false
+e1bc3cd1fe3ae2d1644e188842cd07872591bb56	Two cases of infantile @PHENOTYPICFEATURE$ encephalopathy with opsoclonus and @DISEASE$ are reported.	false
+4c3919f44ccec02bdfbefdafdf8fc50deb47cd10	Remarkably, there is the high coincidence of infantile @PHENOTYPICFEATURE$ encephalopathy and @DISEASE$.	false
+a0c030851cadaa9f854c25daabf2e2408839d584	The neuropathological basis for @PHENOTYPICFEATURE$ encephalopathy associated with @DISEASE$ has never been demonstrated.	false
+d7dca9d7ec62f225e051a9bd95e86215c874f927	Following termination of pregnancy, fetal examination revealed post-axial polydactyly and @DISEASE$-in-situ affecting both adrenals in addition to the @PHENOTYPICFEATURE$.	false
+6ea8613f9725ac3a18c076938f11b72aecf88082	Neuropathologic findings in a patient with @DISEASE$ and @PHENOTYPICFEATURE$ encephalopathy.	false
+0d1624e09e11f5fae25b75f955ecb366c8e33707	@DISEASE$ presenting with @PHENOTYPICFEATURE$ encephalopathy.	false
+e79f997cb0551bdcc9dbab288256b4d5b9c208dc	Neonatal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5c61a04daaaaa1ad7a27ec037128e1be348ae5a5	Response to rituximab in a child with @DISEASE$ and opsoclonus-@PHENOTYPICFEATURE$.	false
+9d95707dc338e1df718008e7cbf537586c1bbc44	[Infantile @PHENOTYPICFEATURE$ encephalopathy with opsoclonus and @DISEASE$.	false
+339b8ee49d423101e4c6b3174367d9db24395219	Our findings document that @DISEASE$ (CLN2), which is caused by TPP1 gene mutations, should be considered in the differential diagnosis of autosomal recessive dystonia-@PHENOTYPICFEATURE$ syndromes.	false
+5f3b6861b8ab4e4718dd328cb2eec46e3c87db83	Moreover, we demonstrated that inhibiting class I HDACs, either by valproic acid (VPA), a class I specific HDAC inhibitor structurally unrelated to TSA, or by knocking down hdac1, suppressed @PHENOTYPICFEATURE$ formation and body curvature caused by @DISEASE$ deficiency.	false
+16e272ca62020e0ed44f5c3b3d871b08ec3014bf	@DISEASE$ or ASS deficiency in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, seizures, and if untreated can be fatal.	false
+b115ae818d69f7e85a10038955860cbec712bc52	Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; @DISEASE$) should be brought in mind in the differential diagnosis of @PHENOTYPICFEATURE$ in association with hiccups in the neonatal period suggesting inborn errors of metabolism.	false
+a770bcc9ce52959deb672f90bd7a99b978d6bddf	Characteristic features found at the time of magnetic resonance imaging and magnetic resonance spectroscopy may be helpful for early diagnosis of type II @DISEASE$ in adult patients who present with hyperammonemic @PHENOTYPICFEATURE$ and coma.	false
+e3068820e7bd76064258da94f79080c097ca65e8	Genes and genetic conditions included in this review are bovine leukocyte adhesion deficiency, deficiency of the uridine monophosphate synthase, bovine chronic interstitial nephritis, horn development, myostatin, complex vertebral malformation, leptin, osteopetrosis, apoptosis peptide activating factor 1, chondrodysplastic dwarfism, caseins, calpastatin, umbilical hernia, lactoglobulin, @DISEASE$, cholesterol deficiency, prions, thyroglobulin, diacylglycerol acyltransferase, @PHENOTYPICFEATURE$, maple syrup urine disease, slick hair, Factor XI deficiency, and ?-Calpain.	false
+8bd794ed23f94f438f09d7cc11beb9d4a4d273b5	@DISEASE$ (PDE) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ in the first hours of life and responding only to pyridoxine hydrochloride.	false
+f38b88ff81fe5e94ea839c1817f8c1b73dcf873b	@PHENOTYPICFEATURE$ (@DISEASE$) is a severe thyroid malignancy with poor prognosis, due to its early metastasis and unresponsiveness to both radiation and chemotherapy.	false
+e8192f35773b5bd37b387b42bda9609562a24540	Taken together, these results suggest that @DISEASE$ or its metabolites inhibit Leydig @PHENOTYPICFEATURE$ cell steroidogenesis at several sites.	false
+8749f4332977de975ae51a2633f8584bd95c46d1	Microsomal preparations from these @PHENOTYPICFEATURE$ contained low levels of aromatase activity which was @DISEASE$ sensitive.	false
+53e8683b684dbbe2fe81350d750fa6633b681fef	Mean values for PF, @DISEASE$, TTP and BV of the @PHENOTYPICFEATURE$ were 33.27?24.15	false
+0f40661668fc94923be2713d36b3ef41d1cd3282	Immunohistochemical analysis of a tissue microarray, containing 160 lung cancer samples, indicated that @DISEASE$ was strongly expressed in different lung @PHENOTYPICFEATURE$ types.	false
+05a8f762c1201a3e16af128b7ec9ff75f6160a9c	While the radiologic diagnostic evaluation of @DISEASE$ bone tumours is quite reliable, caution is urgently needed in the case of soft tissue @PHENOTYPICFEATURE$ because there are many confusing differential diagnoses.	false
+f7f4df987cceb03d491c8d50e5e02afd77a5740c	Mean values for PF, @DISEASE$, BV and TTP of the whole @PHENOTYPICFEATURE$ were 28.85 ? 20.29 ml/min/ml, 23.16 ? 8.09 HU, 12.13 ? 5.21 ml/100g, and 35.05 ? 13.85 s, respectively.	false
+206bea7f3d8aaef85de000f5b834ee4481f11842	In contrast, the relative mRNA expression ratio between cFlip(S), cFlip(L) or @DISEASE$/PEA-15 and caspase-8 remained constant during all @PHENOTYPICFEATURE$ stages.	false
+149f7b75572e512755b9ef010257fab0cb18d461	Four groups were compared: primary early disease (@DISEASE$) T1 and T2 tumors, primary early disease with adjunctive therapy (PEDAT), primary advanced disease (PAD) T3 and T4 @PHENOTYPICFEATURE$, and salvage therapy.	false
+bb9dba9ffdd5ebd20ce64070cca1a2179ae4d037	Four groups were compared: primary early disease (@DISEASE$) T1 and T2 @PHENOTYPICFEATURE$, primary early disease with adjunctive therapy (PEDAT), primary advanced disease (PAD) T3 and T4 tumors, and salvage therapy.	false
+4b5876a58a9269bfbc210113655f2eee27612f0a	In addition, these Leydig @PHENOTYPICFEATURE$ cells were maintained in primary culture and incubated under basal and gonadotropin-stimulated conditions with various doses of @DISEASE$.	false
+bed267d3f66a62d45377447043793919ee6fec9b	[Foot and ankle @PHENOTYPICFEATURE$ : Part?I: overview of incidence, diagnosis and staging of @DISEASE$ tumours].	false
+121811012a0556f6386fd05a0660666fd20429f1	[Foot and ankle tumours : Part?I: overview of incidence, diagnosis and staging of @DISEASE$ @PHENOTYPICFEATURE$].	false
+7df829ae0a636ce7cb70741e35ba9b27daadde58	@DISEASE$ is a rare genetic disorder characterized by severe insulin resistance, extreme hyperinsulinemia, postprandial hyperglycemia, @PHENOTYPICFEATURE$, and dysmorphisms.	false
+484ff1282d60baaea5a19d265ee0f61f5fc62457	Due to its effects, leptin therapy has also been evaluated in conditions where leptin levels are normal or high, such as common @PHENOTYPICFEATURE$, diabetes (types 1 and 2), and @DISEASE$.	false
+fcb2a1730e7c482b376b520eba929066b68425ea	@DISEASE$ (RMS) is a rare genetic disorder characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia.	false
+58b912fa543bedf3e7f8f1dbbe7ab5c0ce8e5dc0	@DISEASE$ is a rare, autosomal recessive disorder characterized by insulin resistance syndrome, @PHENOTYPICFEATURE$, coarse and senile-looking faces, mental precocity, early dentition, and pineal hyperplasia.	false
+c7d8478c6d2377bafca1c613a1eb6448b26633d1	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia.	false
+c7bad736c275cf85583afe40e1ac0808080a81fa	@DISEASE$ (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and @PHENOTYPICFEATURE$.	false
+13aa1dd37930dfbf80a4fc76456db23132f9eaeb	@DISEASE$ (TAR; MIM 274000) is a rare autosomal recessive disorder combining specific @PHENOTYPICFEATURE$ with a reduced platelet count.	false
+544d896300e6051150c60eb3855306eccc4a5b4f	(Thrombocytopenia with absent radii @DISEASE$ is a rare disorder combining specific @PHENOTYPICFEATURE$ with a reduced platelet count.	false
+2dcb74ab5059502736654147b87d5d40e30d6af1	@DISEASE$ (TAR) is a rare genetic disorder consisting of @PHENOTYPICFEATURE$ and thrombocytopenia.	false
+bcb4c78a0ea4af49aa698775c80e2d735f2e812a	However, clinical relevance and result interpretation of BNP assay for the guide of therapy or in particular clinical conditions, such as @PHENOTYPICFEATURE$ or treatment with inhibitors of enzymes degrading BNP in @DISEASE$ patients, are still debated.	false
+d75aa086eca08850711c5ad065d2a6f036c18510	In conclusion, @DISEASE$ patients who were unresponsive to colchicine treatment and did not develop amyloidosis had normal QTd and JTd parameters, indicating a non-increased risk for repolarization-associated @PHENOTYPICFEATURE$.	false
+2b63d393ebab741c10d8592f593aae3d93eb8a02	We hypothesized that late ventricular potentials (LPs), an established electrocardiographic susceptibility marker of @PHENOTYPICFEATURE$, will be more common in @DISEASE$ than in the adjusted normal population due to these two types of inflammation-associated cardiac effects.	false
+3b0af61df5724f2293ed20d4db4b775f708b65f0	A 22-year-old familial Mediterranean fever (@DISEASE$) patient was hospitalized for continuous fever, myalgia, hypertension, @PHENOTYPICFEATURE$ and a petechial rash.	false
+1584719714932e9e2fe8454a05bc8342c312e5d3	A 22-year-old @DISEASE$ (FMF) patient was hospitalized for continuous fever, myalgia, hypertension, @PHENOTYPICFEATURE$ and a petechial rash.	false
+9fcdccde266373cd22da1b87f577579cd5179d5e	@PHENOTYPICFEATURE$ in patients with a phaeochromocytoma/@DISEASE$ (PPGL): A review of clinical cases and postulated pathological mechanisms.	false
+ccf2d0b20e29973e6569d39606c08f894431b4dc	Pheochromocytoma/@DISEASE$ have been described to be associated with rare @PHENOTYPICFEATURE$ like renal artery stenosis.	false
+9340cdc3a256bb9e23009139cae2263fdeef4cba	Pheochromocytomas and @DISEASE$ are notable for a high frequency of inherited cases, many of which present as apparently @PHENOTYPICFEATURE$ tumors.	false
+59765282f873946979a1f793ebf68d0575f27276	This study revealed that excessive norepinephrine in pheochromocytoma and @DISEASE$ was associated with @PHENOTYPICFEATURE$ and LV mass.	false
+191f515b981be53ab058ef22ca8c9d5dfa71f96e	Although mutations in SDHC and in SDHD may cause hereditary @DISEASE$, germline SDHA mutations are associated with juvenile @PHENOTYPICFEATURE$, and the phenotypic consequences of SDHB mutations have not been defined.	false
+6c554d152c3ed149e522ca5d46b644be3a7bb7f5	Subcutaneous ureteral bypass for treatment of bilateral @PHENOTYPICFEATURE$ in a cat with retroperitoneal @DISEASE$.	false
+2f7e6e600ddbc0a1c824120dd57b64dda4efac25	@DISEASE$ and/or immunologic dysfunctions were not noted, although one of the patients had serum @PHENOTYPICFEATURE$.	false
+036f23fe0c3e43f3584969af6f9cb257e616369b	In 54 patients with thymoma, the factors having the greatest bearing on prognosis were presence or absence of gross tumor invasion or an associated clinical syndrome of @DISEASE$, anemia due to erythrocytic hypoplasia or @PHENOTYPICFEATURE$.	false
+1296bc418773d9d91631d4789427ba3e34ab62f9	We report a 75-year-old man with @DISEASE$ for many years, who was hospitalized because of cough, @PHENOTYPICFEATURE$, and dyspnea.	false
+1a3e4c6653e287633a250684b5eb716b9da5059a	[A case of @DISEASE$ associated with muscle twitch, hyperhidrosis and @PHENOTYPICFEATURE$].	false
+fe35b18915e949b67c93c3b0c513d5c367bd28c1	A 25?year old female was referred to clinical genetics with a diagnosis of @DISEASE$, @PHENOTYPICFEATURE$ and learning disability.	false
+d4f9bb01bfd74c1c95403c0ccb310c7df52b720e	APS-II is defined by the development of two or more of the following entities: primary adrenal insufficiency (Addison's disease), Graves' disease, type 1A diabetes mellitus, autoimmune thyroiditis, @PHENOTYPICFEATURE$, celiac disease, and @DISEASE$.	false
+bed4952596c721ad1e49564db1ae29a7b7b418bf	@DISEASE$ gravis and cholangiocellular carcinoma were diagnosed in a 7-year-old English Setter referred because of forelimb lameness, exercise-induced weakness, and @PHENOTYPICFEATURE$.	false
+d37aa38e752d4895b2189471443e987cfbac5503	The muscle weakness of patients with @DISEASE$ becomes worse with intercurrent episodes of infection, @PHENOTYPICFEATURE$ and physical or emotional exhaustion.	false
+e4e88d9937dd8049f60169062ae39b006110abd5	Ocular involvement may consist of conjunctival edema, nystagmus, extraocular muscle imbalance (when associated with @DISEASE$), iritis, cotton-wool spots, and @PHENOTYPICFEATURE$.	false
+f639eb41da8259a5a66fabc7e7091756ae3971f2	We present the case of a woman who suffered of giant cell myocarditis, thymoma, @DISEASE$, chronic lymphocytic thyroiditis, giant cell myositis, granulomatous infiltration in the lymph nodes of the hilus of the lung and @PHENOTYPICFEATURE$; multiple association that we have not found in any published medical paper and that suggest the autoimmune origin of this illness.	false
+e71aba9e5840e135760a8693e404b3efc481662b	@DISEASE$ crowding of the ossicles was associated with @PHENOTYPICFEATURE$ (odds ratio [OR], 5.0; 95% CI, 2.1-11.6).	false
+9bb3712d87d27216efb290fbc2347b60d55e5fe1	@DISEASE$ of the temporal bone is a rare disease which may lead to progressive stenosis of the external auditory canal with @PHENOTYPICFEATURE$.	false
+df3ca6aae76530b75288b7cf325e350da46496b1	In addition, this report documents, in three new cases, the previously undescribed progression of conductive hearing loss to profound @PHENOTYPICFEATURE$ secondary to @DISEASE$.	false
+1a3ac2886675a284102a317b83fb83178914d7e0	In addition, this report documents, in three new cases, the previously undescribed progression of @PHENOTYPICFEATURE$ to profound sensorineural deafness secondary to @DISEASE$.	false
+d13dd15a9381605a6cc416ef03c82db51f801a9e	We report a case of unilateral eye @PHENOTYPICFEATURE$ and optic neuropathy which was initially thought for @DISEASE$.	false
+4d5ebcf095025802a6d3e587cbe5e7a81cc8bca0	Craniofacial @DISEASE$ is associated with facial asymmetry, orbital dystopia, and orbital @PHENOTYPICFEATURE$.	false
+140001675693a18a7443a5e5cd150caba4583cda	@DISEASE$ of the temporal bone: reversal of @PHENOTYPICFEATURE$ after decompression of the internal auditory canal.	false
+dc90481a6e28cb43b010e5f752aef0eee7b4cdc3	Cranioorbital @DISEASE$: with emphasis on @PHENOTYPICFEATURE$ and current surgical management.	false
+c8bd20058c6ff8678cd393337f9d37c258353098	@DISEASE$ of the temporal bone presenting with facial nerve palsy and @PHENOTYPICFEATURE$.	false
+e1c01b43ce83a0cdd6608aca1ab7da46b6812519	This is the only case of which we are aware showing reversal of @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+b27008491e12ae257c04888e3aaced90da5ce83e	Although their classification has been reviewed multiple times in the past, the most common benign fibro-osseous lesions are @DISEASE$, osseous dysplasia and @PHENOTYPICFEATURE$.	false
+24967422439799c2a8419eda34825b448d8ef4fc	Then, treatment consisting of atropine sulfate, and/or @DISEASE$ and/or NBQX was administered to intoxicated animals at infraanticonvulsant doses to obtain a graded subsequent neuropathology and to appreciate an eventual relation between neuropathology and spatial @PHENOTYPICFEATURE$.	false
+09127752401c57b3f80757e48c6e8e7d6c023678	Although adult @DISEASE$ shows a wide clinical variability, a more frequent pattern can be identified characterized by bulbar or pseudo-bulbar signs, @PHENOTYPICFEATURE$, and spasticity, and including on MRI medulla and cervical cord atrophy.	false
+8dfc2375ea1c906d1fdd02caf123f95cfc06fbc2	CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, @DISEASE$, and @PHENOTYPICFEATURE$ and oculomotor apraxia.Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ(10).	false
+c506590c736c79af350901c4df115eabfb4df10d	@PHENOTYPICFEATURE$ may be common in those with @DISEASE$, and may lead to accelerated airflow obstruction.	false
+0145566acb4d4dd7df73ee89db8b479d7dea43ea	@PHENOTYPICFEATURE$ and COPD in @DISEASE$.	false
+ef830fe91202cc3a0a0f4b5c1903ad180ee139c5	@PHENOTYPICFEATURE$ and allergy in @DISEASE$.	false
+65554331a085718cd3689df54685653fceda3c20	From the literature review and our findings we conclude that ciliary investigation is indicated (a) in patients who remain suspected of having PCD despite thorough clinical examination and exclusion of other disorders such as cystic fibrosis, allergy, immunologic disorders and @DISEASE$; (b) in patients with situs inversus suffering from chronic and/or recurrent airway infections; and (c) in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after exclusion of hyaline membrane disease, aspiration syndromes, neonatal @PHENOTYPICFEATURE$, and pneumothorax as well as cardiovascular and metabolic diseases).	false
+639febaa66093670e4ca2fa46e3bf41d764e284e	@PHENOTYPICFEATURE$ attacks precipitated by disodium cromoglycate in boy with @DISEASE$.	false
+5f0fb60ec8512613f6d98b7d78e60cd75429f76d	A three year old child with cirrhosis of the liver and ascites caused by @DISEASE$, developed severe @PHENOTYPICFEATURE$ with diarrhea and fever.	false
+601d6de52e33165facd4770ad9139669f79b0338	Several studies in humans have been performed regarding changes in sialic acid expression in a particular pathology, @DISEASE$, leading to @PHENOTYPICFEATURE$ and atrophy, with a similar phenomenon appearing also in sarcopenia of aging.	false
+e2889f3080bca08e31a824c8987b0353e15fc747	This case differs from @DISEASE$, because the onset was very late and her @PHENOTYPICFEATURE$ and atrophy was proximal dominant.	false
+5aba24256baa91bc8b835686c29d7bdbf0e22007	The aim of this work is to develop and study a fully continuous individual-based model (@DISEASE$) for cancer @PHENOTYPICFEATURE$ invasion into a spatial environment of surrounding tissue.	false
+d447e32cb3fe685274f6afb22c5c0371330a34e1	The @PHENOTYPICFEATURE$ produced a localized exudative retinal detachment, @DISEASE$, and surface-wrinkling retinopathy.	false
+ca404f6d8226e0036126081bb6126451c86043b4	Clinical presentation included birdshot-like retinochoroidopathy, occlusive bilateral @PHENOTYPICFEATURE$, and @DISEASE$.	false
+34e4b37f4f214fd6e74b3c69c3086b4c0d35f4d7	@DISEASE$ associated with ocular @PHENOTYPICFEATURE$ lipids.	false
+e79f6b6a46e710e51aa79d1cf358ebda2195973d	@DISEASE$ in association with cataract surgery, epinephrine therapy, and ocular @PHENOTYPICFEATURE$ lipid therapy is reviewed.	false
+4c59b6792a96c6f0761f6c1a63f29f0d3d262832	Until a causal relationship between @DISEASE$ and ocular @PHENOTYPICFEATURE$ lipids is proved or disproved, caution in their use in high-risk eyes would be prudent.	false
+88f529a0b193047fb74fea17b1a267f6f1e5c315	@DISEASE$ in the era of ocular @PHENOTYPICFEATURE$ lipids.	false
+7e0edac401a4fdb2e4caa695f2bc8160d9250873	Patients with @DISEASE$ should be carefully examined for @PHENOTYPICFEATURE$ or other pathological findings in the peripheral fundus.	false
+623d8fe93fd9e465ec0a9dc2bdf13b4dabaf8ecf	Based primarily on experience with latanoprost, the association between ocular @PHENOTYPICFEATURE$ lipids and @DISEASE$, even in high-risk eyes, although present, appears to be low.	false
+15a3bfb7c566be23e7cba76d5c25fb08c913d4a9	It is possible that pseudophakic eyes that develop intense conjunctival hyperemia associated with ocular @PHENOTYPICFEATURE$ lipids might be at higher risk for developing @DISEASE$.	false
+2c8ac3a23662f34390a407f76077fa2ff351b29e	The patients were informed of the potential risks of @DISEASE$ associated with the use of an ocular @PHENOTYPICFEATURE$ lipids versus the risks of repeat filtration surgery.	false
+d004514f7f49a22267767d5891a16b1fc39b429b	Signs and symptoms of @DISEASE$ begin in infancy and include failure to thrive, hepatomegaly, hypophosphatemic rickets, and @PHENOTYPICFEATURE$.	false
+039247d30d8d07abcd242481a67a7b18a326324a	To the best of our knowledge, patient C may be the first @DISEASE$ case worldwide with de novo @PHENOTYPICFEATURE$.	false
+d4ac1bbbd2cfb7db1781857c72b5bb53d6d8fc2e	She presented with @PHENOTYPICFEATURE$, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (@DISEASE$) was diagnosed.	false
+2cd99af210d0ecb64020b123da75b1b6c920913f	@PHENOTYPICFEATURE$ and hypoinsulinemia in patients with @DISEASE$.	false
+9109633fe71cd06dedbabcd390d3d675a39d15af	Some clinical signs that have been considered hallmarks of @DISEASE$ like hepatomegaly and @PHENOTYPICFEATURE$ may be absent in this condition.	false
+f99ac6ec6041d4f1e231f40d6910b3344e9cfc1c	Myoclonic seizures developed at 4 months of age in Patient #1 (7 years old), and at 2 months of age in Patient #2 (11 years old), followed by @PHENOTYPICFEATURE$, @DISEASE$.	false
+9761eb4dfcdbac393955d56aa865f0d03f96c717	We present a case of mesenteric @DISEASE$ in a young woman who was admitted to hospital with a history of increasing @PHENOTYPICFEATURE$.	false
+f2acdfcb863d91e2c5a2502169bb59380447cf2f	The leading anomalies included cleft lip, cleft palate, anencephaly, @PHENOTYPICFEATURE$, hydrops fetalis, trisomy 21 and @DISEASE$.	false
+b39320fb385dcab5c98efb956f10ff4ed615756d	We report on an 18-week fetus with cyclopia, alobar holoprosencephaly, complex congenital heart defect, @PHENOTYPICFEATURE$, oligosyndactyly, @DISEASE$, and skeletal abnormalities with trisomy 4. Structural anomalies were detected on routine ultrasound of the pregnancy of a 17-year-old G3 P1 TAB1 woman with sickle cell trait.	false
+15cb0f439b11c18b19ffda8a3734f36070803ca8	Signs of pre-existing brain injury, including @PHENOTYPICFEATURE$ and subdural @DISEASE$/effusion were present in 23.9% and 19.6% respectively among children with non-accidental TBI and in none of the children with accidental TBI.	false
+28ff0b51ee5f662f564c3d8a5e93a6e439d385f1	This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including @DISEASE$ and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and @PHENOTYPICFEATURE$.	false
+3e39d5539386d53d7eebb791c0edd4ac667503cd	Nonimmunologic hydrops fetalis is associated with various pathological conditions, twin transfusion syndrome including acardiac monsters, fetal heart diseases, congenital cystic adenomatoid malformation, pulmonary sequestration, pulmonary lymphangiectasia, intrauterine infections such as cytomegalovirus infection and neonatal @PHENOTYPICFEATURE$, congenital neuroblastoma, Kasabach-Merritt syndrome, @DISEASE$, and chromosomal aberrations.	false
+7c4fdb36206e1abc970525605da48475de00d636	Differential diagnosis was made between external communicating hydrocephalus, atypical communicating hydrocephalus, subdural @DISEASE$ and local @PHENOTYPICFEATURE$ by means of CT scan, isotope cisternography, and isotope brain scintigraphy.	false
+18bc97290aa50dbf09b8e62e8477ed3b7f947d36	Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0e1eea72ef2654cdb8efa6b2b2ee746892b2048a	We believe this is the first documented case associating @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3b6ffc53f35f54d22c70c60407b13f4507fea126	Our patient, diagnosed at 4 weeks of life, lacks the major @PHENOTYPICFEATURE$, such as pectus carinatum, @DISEASE$, and bowing of the long bones usually associated with this syndrome.	false
+47174a819f832ee4fe2a32af4e961fcb6a47e9bc	Additional features present in some individuals include retinal abnormalities, pancreatic insufficiency, liver cirrhosis, @PHENOTYPICFEATURE$, @DISEASE$, joint hypermobility, and cryptorchidism.	false
+ad1b31df492720fa8228f8b0741e1746ea9de918	Examples include short stature, gigantism, premature and delayed skeletal maturation, some changes in fracture patterns associated with puberty, joint malalignments, @DISEASE$, scoliosis, limb torsions, the ball-and-socket ankle, and some @PHENOTYPICFEATURE$ in Marfan's syndrome and the osteochondrodystrophies.	false
+11b4903b649bf83254adc27130f0f4a8f5ebed2c	@DISEASE$ (DDH) is one of the most common @PHENOTYPICFEATURE$.	false
+7ea2d9a66051e28dd7ed0ec5f7be65a40c184e79	@DISEASE$ (DDH) is one of the most common congenital @PHENOTYPICFEATURE$.	false
+f91237a12da71562f0e1f8efd0105b27812886f5	To report the incidence of @PHENOTYPICFEATURE$ development by 6 months' corrected age in preterm children who participated in the Early Treatment for @DISEASE$ study.	false
+ef1661b0e8e54c9b8559461e6847767b8c3e31b0	Incidence of @PHENOTYPICFEATURE$ development by 6 months' corrected age in the Early Treatment for @DISEASE$ study.	false
+35c5316db689affc7e8762c67aa07d8e568c5ec9	Seventeen adults (9 women, 8 men) with @DISEASE$ were identified who had undergone phacoemulsification for visually significant @PHENOTYPICFEATURE$ or phacomorphic glaucoma and who had at least 6 months of postoperative follow-up.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+66cc3198839c856030d62efdebd6a36c6b09dc12	Diseases of the retina are the major cause of @PHENOTYPICFEATURE$, with @DISEASE$ being an important avoidable cause.	false
+c300ec05219a8c4754ca6e3f21243334f945fff0	Aetiologically (timing of insult leading to @PHENOTYPICFEATURE$), the major cause of visual impairment was @DISEASE$ (ROP) (96, 41.9 %), followed by abnormalities of unknown timing of insult (97, 42.4%), and hereditary disease (21, 9.2%).	false
+bc3fef8e5e3fac039796a2dfc5957d00df156804	Aetiologically (timing of insult leading to visual loss), the major cause of @PHENOTYPICFEATURE$ was @DISEASE$ (ROP) (96, 41.9 %), followed by abnormalities of unknown timing of insult (97, 42.4%), and hereditary disease (21, 9.2%).	false
+384d2079cd497aac73f419588f7a47f6520099bf	Diagnostic considerations in this case include inclusion of @PHENOTYPICFEATURE$ as a new feature in the expanding spectrum of the Goldenhar complex, versus @DISEASE$ with epibulbar dermoid.	false
+0b1115daaee933023c30d8a23bb982ade84a7601	A 10-month-old boy, with @PHENOTYPICFEATURE$ and blindness associated with chromosomal deletion [46XY, del(13)(q32)], presented with intractable ascites 9 months after ventriculo-peritoneal shunting for @DISEASE$.	false
+ee9f3631e80a9c4aaa4ddb59cad307e43c3b5478	Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intrauterine growth retardation, @DISEASE$, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, @PHENOTYPICFEATURE$, small nose with prominent bridge, prominent upper lip, and small mandible.	false
+54386055725c64e8da1c555221e4be9db7f0af82	Two male patients from one family are reported, who are affected with @DISEASE$, mental retardation, short stature, @PHENOTYPICFEATURE$ and hypogenitalism.	false
+3798570ffca298b518b44f981ae59d8e8eea72da	Morning glory syndrome (MGS) is a congenital @DISEASE$ disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and @PHENOTYPICFEATURE$.	false
+267ca2dfc95d2e032da3d5dc1452693d803031bd	Some individuals develop @PHENOTYPICFEATURE$ (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (@DISEASE$ pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life.	false
+332bb3148c9f816ca4d0eca262bf8e3071627b49	The authors report two cases of @DISEASE$ hypoplasia associated with @PHENOTYPICFEATURE$ and discuss the anatomical, pathophysiological and genetic aspects of the "Septo-Optic Dysplasia".	false
+5dc0e8aa8df28948cbeaab3fd459f616308b0b47	We assessed both groups for: age at diagnosis of NF1, gender distribution, family history, gender inheritance, presence of scoliosis, sphenoid wing osteopathy, other @PHENOTYPICFEATURE$, macrocrania, hydrocephalus, plexiform neurofibromas, tumors, @DISEASE$ pathway gliomas, T2H (high-signal intensity areas on T2 weighted brain MRI), epilepsy, headache, mental retardation, cardiovascular malformations, and Noonan phenotype.	false
+97d7ed548c4b79d325c89a54f9773c9689cd9b9f	@DISEASE$ hypoplasia and @PHENOTYPICFEATURE$.	false
+df969c35725ac70c42c2fdc79afcc90cd9c2023d	A 3-month-old infant with @DISEASE$ chiasm glioma developed @PHENOTYPICFEATURE$ and inappropriate secretion of antidiuretic hormone with plasma hypo-osmolality.	false
+13f2195c0363a22ecd84dc0b79e7d83b3a4dd3fe	The effects of systemic hypertension on the posterior segment of the eye are discussed under the headings of hypertensive choroidopathy, hypertensive retinopathy, and @PHENOTYPICFEATURE$ @DISEASE$ disc edema.	false
+bffc16faf19cb2e6c9848c59559086282b9b9911	Here, we report on an autosomal recessive syndrome with ACC, @DISEASE$ coloboma, craniofacial dysmorphism, @PHENOTYPICFEATURE$, and intractable seizures in a brother and sister from a consanguineous family.	false
+ce43cdad4bb71c7cd0c2002043bfcae4d49762b4	In order to assess the possible progression of @PHENOTYPICFEATURE$ over time and the value of visual evoked potential alterations in predicting stability and severity of diabetes-related @DISEASE$ pathway disease, a longitudinal study in non-insulin-dependent diabetic patients was performed.	false
+f819a0c32ff64c19087dc2c45d8347c0bb4b7c71	Both diseases have been correlated with @DISEASE$ disc anomalies, @PHENOTYPICFEATURE$, and midfacial defects.	false
+e735f61122f6e2ce04d89edf824c45aed9b4efe1	M. Down, @DISEASE$, celiac disease and other malabsorptions, malignant @PHENOTYPICFEATURE$, chronic otitis media, and infectious mononucleosis (author's transl)].	false
+e6244f494b02cd3ceb01cb0eb0652936f580043d	@DISEASE$ (PKU) is characterized by a disruption in the metabolism of phenylalanine and is associated with dopamine deficiency (Diamond, Prevor, Callender, & Druin, 1997) and @PHENOTYPICFEATURE$ (e.g., Anderson et al., 2007).	false
+a6de4df7c164633fcf447d081c4e88375484a6d9	Phenylketonuria (@DISEASE$) is characterized by a disruption in the metabolism of phenylalanine and is associated with dopamine deficiency (Diamond, Prevor, Callender, & Druin, 1997) and @PHENOTYPICFEATURE$ (e.g., Anderson et al., 2007).	false
+b24a4cd7ff74756d5904b614b04c6ba22b3b84d7	Treated @PHENOTYPICFEATURE$ cells exhibited biochemical alterations similar to those observed in @DISEASE$-like conditions, including selective decline in de novo cholesterol synthesis from mevalonate.	false
+d6f990acda6237cae1e81c65c77d11f8fc0246b5	The synthetic BH4, Kuvan, is used to elevate BH4:BH2 in some @DISEASE$ patients and to treat diseases associated with endothelial dysfunction, suggesting a novel, testable approach for correcting an abnormality of @PHENOTYPICFEATURE$ metabolism to control tumor growth.	false
+78e4bb9d7675a5655972880d8e9a28e375b541b4	The synthetic BH4, Kuvan, is used to elevate BH4:BH2 in some @DISEASE$ patients and to treat diseases associated with endothelial dysfunction, suggesting a novel, testable approach for correcting an abnormality of tumor metabolism to control @PHENOTYPICFEATURE$ growth.	false
+8dd30c74f1851082fe89f1bf1f100669d364fe8e	The third case was @DISEASE$ associated with a facial region @PHENOTYPICFEATURE$ (rhabdomyosarcoma), in which parenteral nutrition was complicated because of a high phenylalanine content in the amino acid formulas for parenteral nutrition.	false
+df9091bfe661c8ff23d8f8ae235604b5ce41ac55	[@DISEASE$ associated with craniostenosis and @PHENOTYPICFEATURE$].	false
+cbbd855e1b407bef49162940efe8c415b8f870c1	Cerebral white matter lesions (CWMLs), identified in magnetic resonance imaging (MRI), are related to various clinical conditions including ischemia, inflammation, demyelination, infection, a @PHENOTYPICFEATURE$, and metabolic disorders such as @DISEASE$.	false
+fabe6b926fa61ad53a0256e8986b1622a2d24ab4	The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including @DISEASE$, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several neurodegenerative disorders of brain iron accumulation.	false
+84e1e57a4742c6692f4c3912d5b254a6e6e7babb	@PHENOTYPICFEATURE$ and @DISEASE$ preceding rapid progressive dementia.	false
+8e7e5c63669c032bc95d62ec19a3fd2cef30a221	Progressive @PHENOTYPICFEATURE$ with @DISEASE$.	false
+4669876489ab9dd5145c1f885d3a729e9602caf8	Descriptions of @DISEASE$ with progressive @PHENOTYPICFEATURE$ are relatively rare.	false
+a36962846c9c964323435409110f49a5da6499a6	@DISEASE$ (PCA) and logopenic progressive aphasia (LPA) are clinical syndromes associated with posterior @PHENOTYPICFEATURE$.	false
+890ee1a28c909295616a88913744fcf482f08339	We report a patient of @DISEASE$ with progressive @PHENOTYPICFEATURE$, B?lint's syndrome and dementia in which posterior cortical atrophy with similar characteristics on CT and progressive dementia were found in a sister.	false
+e76ca9c3443a25cdeab6f0cae8835ff76415d192	We report a patient of posterior cortical atrophy with progressive @PHENOTYPICFEATURE$, B?lint's syndrome and dementia in which @DISEASE$ with similar characteristics on CT and progressive dementia were found in a sister.	false
+3687be813692cda69f3ef34d1d6b03b365e94f53	[@DISEASE$ with progressive @PHENOTYPICFEATURE$].	false
+d6f301ba888e5fdc38f8e7e2c06f538d7735c715	@PHENOTYPICFEATURE$ in @DISEASE$: are they different from those in Alzheimer's disease after all?	false
+e41ac656aa8bda20c5655c3166c08a21ba2d25df	Looking beyond the eyes: @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d8565b936bdfdadee273e97333670b74a053b0b2	The condition of progressive visual loss, including @PHENOTYPICFEATURE$, and posterior cerebral atrophy was named @DISEASE$ (PCA) by Benson et al. (1988).	false
+d01db972bbbf77b78548f81623872ea9b69b6adb	[Familial @DISEASE$ with @PHENOTYPICFEATURE$ and B?lint's syndrome].	false
+3b9036cdd0dd312e62a11fef2a3472766bd72063	To describe the phenotypic characteristics and clinical course of a sporadic case of @DISEASE$ (CFEOM) and M?bius syndrome with a de novo @PHENOTYPICFEATURE$ in the KIF21A gene encoding a kinesin motor protein.	false
+e08c5497e07966245f8bf95b1d90469f6b590ee2	Ritscher-Schinzel syndrome (@DISEASE$)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by @PHENOTYPICFEATURE$, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities.	false
+633f674b17867843a83c692bd837bd4bae4d4249	The case confirms FKTN mutations as a cause of LGMD2M without @PHENOTYPICFEATURE$ and expands the phenotypic spectrum for LGMD2M to include cardiomyopathy and @DISEASE$ in the mildest affected non-Japanese patient reported so far.	false
+ccddb15835fc62ddeb28de7f4f5182f6d0271de4	@DISEASE$ (MIM #151100) is a rare autosomal dominant condition with characteristic skin anomalies, @PHENOTYPICFEATURE$, hypertelorism, cardiac anomalies, and occasional conductive hearing loss.	false
+7e531fd7dd9ee0d3afd5622253705e1ffca4c232	We describe the novel association in a girl of nephrotic syndrome due to @DISEASE$, bilateral sensorineural deafness, @PHENOTYPICFEATURE$, bilateral retinopathy similar to that seen in Coats' disease, with de novo duplication of a subtelomeric region of chromosome 4q35.	false
+52dc1b1e13a96f4986d258589a93b008c8532e9b	Significant overlap and possible identity of macrocephaly capillary malformation and @DISEASE$ polymicrogyria-@PHENOTYPICFEATURE$ hydrocephalus syndromes.	false
+e9a0d05d32ed29546969f3b7b4eb4a67dd47acf1	Megalencephalic polymicrogyria syndromes include @DISEASE$-capillary malformation and megalencephaly-polymicrogyria-@PHENOTYPICFEATURE$-hydrocephalus.	false
+d01f42764a7f2e32774d49bec5301d52bcd6917d	Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and @DISEASE$-polymicrogyria-@PHENOTYPICFEATURE$-hydrocephalus.	false
+4f8913a7b161e41db133ac9ae8115778b0bce80c	@DISEASE$ capillary malformation (MCAP) is a syndrome involving brain overgrowth, characterized by megalencephaly, capillary malformations, asymmetric growth, polymicrogyria, @PHENOTYPICFEATURE$, and syndactyly.	false
+1ea239a67d3d39be7e074a0cd2ec309ad5adeb75	We report a cohort of 6 children with megalencephaly-capillary malformation (MCAP) and @DISEASE$-@PHENOTYPICFEATURE$-polymicrogyria-hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia.	false
+8f87d86943eec731a14b07ff5604ffed0321bbb6	We report a cohort of 6 children with @DISEASE$-capillary malformation (MCAP) and megalencephaly-@PHENOTYPICFEATURE$-polymicrogyria-hydrocephalus (MPPH) syndromes who developed clinically significant hypoglycaemia.	false
+966b6c105a41388dcf9036ba74bbe94d02166487	@DISEASE$-capillary malformation (MCAP) and megalencephaly-@PHENOTYPICFEATURE$-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.	false
+5e15f54dd4327b0c09ce31aff028f4601329eaf6	Megalencephaly-capillary malformation (MCAP) and @DISEASE$-@PHENOTYPICFEATURE$-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.	false
+f8fd02c9c851829b90b64896c0fd169f6efd2fe9	High-dose therapy with steroids proved effective for the arteritis, @DISEASE$, and multiple @PHENOTYPICFEATURE$.	false
+6736d306540befc380ac02f3f29a94517f39c17c	More specifically, according to well-documented clinical trials, anti-TNF-? agents exhibited favourable results in Beh?et's disease, non-infectious @PHENOTYPICFEATURE$, @DISEASE$ and hidradenitis suppurativa.	false
+834f61dc0e7a37782aeba07cb4b8a7156a4ed7fb	A 68-year-old man presenting @DISEASE$ with pustules and stage I multiple myeloma was admitted for asthenia and @PHENOTYPICFEATURE$.	false
+572fc081973a6a64aedd65297a85fc23a1140356	Some of them are frequent like @DISEASE$, erethema nodosum and @PHENOTYPICFEATURE$.	false
+fea19bf494c0ef2a3a1127d9f2d9de47433591d9	Is low-grade serous ovarian cancer part of the @PHENOTYPICFEATURE$ spectrum of @DISEASE$?	false
+13c3ebc2453b0187a21771e88a358e790ef973cb	BRCA1 is a @PHENOTYPICFEATURE$ suppressor gene that is responsible for @DISEASE$.	false
+d3b74793d8b2668db53e3b09cb72e008a1bbfca1	wild-type @PHENOTYPICFEATURE$ samples from women with family history strongly suggestive of @DISEASE$.	false
+872292b091795b57c07e9fcdb4fd5b0a39929ff1	BRCA1 is a @PHENOTYPICFEATURE$ suppressor gene mutated in cases of @DISEASE$.	false
+d4738e7f95560007e562a0b717495c7c122d5096	The most common hereditary gynaecological @PHENOTYPICFEATURE$ syndromes are @DISEASE$ and Lynch syndrome.	false
+3cf52cf037e7502b91555d6c761e594427492c62	BRCA2 is a @PHENOTYPICFEATURE$ suppressor gene that is linked to @DISEASE$.	false
+fdf07b4a8e4a5ef8c832d3128db72bda5b023814	BRCA1 is a @PHENOTYPICFEATURE$-suppressor gene responsible for @DISEASE$.	false
+b29756c9ff9be2955698c1fd112d1fcbae9d37c1	Deleterious variants in the @PHENOTYPICFEATURE$ suppressor BRCA1 are known to cause @DISEASE$ (HBOC).	false
+8ee05d7c694f70abdbac330bab7f7b15fd448f2d	Mutations within the @PHENOTYPICFEATURE$ suppressor BRCA1 cause the majority of @DISEASE$.	false
+221875eb133ac73e1b3f92d744a49164ed165f4d	Mutation of the BRCA1 @PHENOTYPICFEATURE$ suppressor gene predisposes women to @DISEASE$.	false
+519a1d558450e0b6d5f376505ffb1387d96cd820	Logistic regression analyses were performed to determine optimal combination of clinical and @PHENOTYPICFEATURE$, characteristic of @DISEASE$.	false
+987d654d98a1e5c89f7742fe55e8026df5a063f4	In a mouse model of @DISEASE$ deficiency, "glaucoma-like" @PHENOTYPICFEATURE$ were observed as well as developmental defects in the eye.	false
+484e9d65d1a10ff086d04a78dca52bd90bd19967	In a mouse model of @DISEASE$ deficiency, "@PHENOTYPICFEATURE$-like" optic nerve abnormalities were observed as well as developmental defects in the eye.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+5fd447ab25836edea1733dbea7abecba2d070b2b	We report a case of @DISEASE$ (RTA) in association with @PHENOTYPICFEATURE$.	false
+7392418a6a46c273a91218a844d2a693fa260990	Cutaneous lesions include @DISEASE$, mastocytoma, diffuse and @PHENOTYPICFEATURE$ cutaneous mastocytosis, and telangiectasia macularis eruptiva perstans.	false
+d0225a6402db3e8998bc43629e2e124edae83742	In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides and subacute cutaneous lupus erythematosus), papulosquamous/papulokeratotic dermatoses (lichen planus, pityriasis rosea, papulosquamous sarcoidosis, guttate psoriasis, pityriasis lichenoides chronica, classical pityriasis rubra pilaris, porokeratosis, lymphomatoid papulosis, papulosquamous chronic GVHD, parakeratosis variegata, Grover disease, Darier disease and BRAF-inhibitor-induced acantholytic dyskeratosis), facial inflammatory skin diseases (rosacea, seborrheic dermatitis, discoid lupus erythematosus, sarcoidosis, cutaneous leishmaniasis, lupus vulgaris, granuloma faciale and demodicidosis), acquired keratodermas (chronic hand eczema, palmar psoriasis, keratoderma due to mycosis fungoides, keratoderma resulting from pityriasis rubra pilaris, tinea manuum, palmar lichen planus and aquagenic palmar keratoderma), sclero-atrophic dermatoses (necrobiosis lipoidica, morphea and cutaneous lichen sclerosus), @PHENOTYPICFEATURE$ macular diseases (extragenital guttate lichen sclerosus, achromic pityriasis versicolor, guttate vitiligo, idiopathic guttate hypomelanosis, progressive macular hypomelanosis and postinflammatory hypopigmentations), hyperpigmented maculopapular diseases (pityriasis versicolor, lichen planus pigmentosus, Gougerot-Carteaud syndrome, Dowling-Degos disease, erythema ab igne, macular amyloidosis, lichen amyloidosus, friction melanosis, terra firma-forme dermatosis, @DISEASE$ and telangiectasia macularis eruptiva perstans), itchy papulonodular dermatoses (hypertrophic lichen planus, prurigo nodularis, nodular scabies and acquired perforating dermatosis), erythrodermas (due to psoriasis, atopic dermatitis, mycosis fungoides, pityriasis rubra pilaris and scabies), noninfectious balanitis (Zoon's plasma cell balanitis, psoriatic balanitis, seborrheic dermatitis and non-specific balanitis) and erythroplasia of Queyrat, inflammatory cicatricial alopecias (scalp discoid lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia and folliculitis decalvans), nonscarring alopecias (alopecia areata, trichotillomania, androgenetic alopecia and telogen effluvium) and scaling disorders of the scalp (tinea capitis, scalp psoriasis, seborrheic dermatitis and pityriasis amiantacea).	false
+bd69c6d9dbde855e877aedf7ae24c701a0f6ef01	Nettleship's original description of @DISEASE$ and his research into the inheritance of @PHENOTYPICFEATURE$ are reviewed in more detail.	false
+aa36b4fc9f4ede0717e7c07cfee076bf0a3a95f5	We describe a 30-month-old boy with multiple anomalies and @PHENOTYPICFEATURE$ with hereditary @DISEASE$.	false
+f790d350320468b42eb58398c26248daaca7e6c9	Human parvovirus B19-associated @PHENOTYPICFEATURE$ with @DISEASE$.	false
+19b51c7423909bdeed5d3e2b584ad30907ba53f1	We describe a brother and sister with @PHENOTYPICFEATURE$, short stature, delayed puberty, @DISEASE$, and an abnormal facial appearance.	false
+a829986774e08d024d8ea9f4ac1eda157b26623e	FMR1 premutation carriers are common in the general population (1/130-260 females and 1/250-810 males) and can be affected by @DISEASE$, fragile X-associated primary ovarian insufficiency, anxiety, depression, hypertension, @PHENOTYPICFEATURE$, fibromyalgia, and hypothyroidism.	false
+fe9ef8aa5426efd7ff6ec45c6db85fdaf1e31c03	Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (@DISEASE$ [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, @PHENOTYPICFEATURE$, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described.	false
+72e241e4ec26b7462a183efff656a259906ac668	The @DISEASE$ is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, @PHENOTYPICFEATURE$, prenatal and postnatal growth deficiency, and neonatal death.	false
+b2a7558338e3ef6816193d68bdc0225640cb124f	Two patients had @PHENOTYPICFEATURE$, 7 had hypertension, and 2 had @DISEASE$.	false
+05a51b80b3feefab92de376ba18b6699447007e9	OCT) have been compared between two patient groups, @DISEASE$ (POAG), @PHENOTYPICFEATURE$ (NAION) and healthy controls.	false
+83a0dcb5b7d69c0b6a70e210dac76417b0644a80	Objective assessment of dry eye disease (DED) severity and @PHENOTYPICFEATURE$ using the InflammaDry? test for extracellular matrix metalloproteinase-9 (MMP-9) and the impact of antiglaucoma eye drops in people with @DISEASE$ (POAG).	false
+4325689b1e18f45240c855062c1e7a94166d25c0	In addition to the key facial and auditory findings observed in the @DISEASE$, these patients have such bilateral upper limb defects as hypoplasia of the musculoskeletal system, @PHENOTYPICFEATURE$, fusion of the carpal bones, and syndactyly.	false
+7783a0c38e11d5ca7978b9db99f0c0038fff61fd	Youth with early @PHENOTYPICFEATURE$ schizophrenia (@DISEASE$) are eligible for an individualized education plan (IEP) in school settings, yet often have declining academic performance over time.	false
+b2ada189e04b696d7d9b50c608d577ba9d36727e	Youth with early onset @PHENOTYPICFEATURE$ (@DISEASE$) are eligible for an individualized education plan (IEP) in school settings, yet often have declining academic performance over time.	false
+d3ba40ad0cdfeb163807cddaae327ed93bffa6f8	@DISEASE$ is usually associated with an atretic meatus, and it may involve the possibility of epithelial cyst or @PHENOTYPICFEATURE$.	false
+271fa1272f03a09936bb8c9cc2a1384f4a0b4d9a	Transfer to the plasma HDL pool was significantly reduced in familial @DISEASE$ combined @PHENOTYPICFEATURE$, hypoalphalipoproteinemia and dysbetalipoproteinemia.	false
+1511014a37bdc2c522bb6914f185f6d0476e0988	The authors include in this category familial @DISEASE$ combined @PHENOTYPICFEATURE$, and polygenous hypercholesterolemia. Individual disorders are thoroughly analyzed in view of their early diagnostics, differential diagnostics and clinical state.	false
+9267676a56be2554dfb23eca1c74e742b33c45bf	Candidates for drug therapy often include those with familial @DISEASE$ combined @PHENOTYPICFEATURE$, the metabolic syndrome, polycystic ovarian syndrome, type 1 diabetes, and the nephrotic syndrome.	false
+239a35624db0d925adf7dd6db9f33f1e2f031b22	Elevated apo B-100 and sdLDL-C are observed among people with familial @DISEASE$ combined @PHENOTYPICFEATURE$, diabetes mellitus, or metabolic syndrome, all of which lead to CHD with high probability.	false
+45a11a17fe36ecf59a3a55af711e77338916ef00	Candidates for drug therapy often include those with familial @DISEASE$ combined @PHENOTYPICFEATURE$, the metabolic syndrome, polycystic ovarian syndrome, type I diabetes, and the nephrotic syndrome.	false
+197d75abc0e263fb4e3f39784110e4a187885b98	The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial @DISEASE$ combined @PHENOTYPICFEATURE$, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, obesity, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs.	false
+bb3b818e9d571e2d6f677ba4262bbe83ed779f05	High resolution ultrasound has also confirmed postmortem findings that atherogenesis has its beginnings in childhood and adolescence, with the demonstration of increased carotid artery intima-medial thickening in children with familial @DISEASE$ combined @PHENOTYPICFEATURE$, and type 1 diabetes and in the offspring of a parent with early coronary disease.	false
+9d897081ec32be4e61f3362f8ddf9d67b30e9207	The major causes of moderate and severe hypercholesterolemia are familial @DISEASE$ combined @PHENOTYPICFEATURE$, severe primary (polygenic) hypercholesterolemia, and familial dysbetalipoproteinemia.	false
+760e599a1414ccdbd9e0f9f6d161fa31450ed3db	They are certain inherited disorders of dyslipoproteinemia (familial @DISEASE$ combined @PHENOTYPICFEATURE$, hyperapobetalipoproteinemia, and hypoalphalipoproteinemia) and secondary causes of hyperlipidemia (congenital biliary atresia, glycogen storage diseases, hypothyroidism, diabetes mellitus and nephrotic syndrome, etc).(ABSTRACT	false
+c1420112dbe87c786effbc4c2770cf8ffd2dda7f	Evidence is presented that isolated GH deficiency (IGHD), multiple pituitary hormone deficiencies (MPHD) including GH, as well as primary @DISEASE$ deficiency (GH resistance, Laron syndrome) present signs of early ageing such as thin and wrinkled skin, @PHENOTYPICFEATURE$, hyperglycemia and osteoporosis.	false
+722afd7a8842116329648f8cc0ba80c61ab99ac9	@DISEASE$ (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and @PHENOTYPICFEATURE$.	false
+ac0ecb5de9ea8895741ac2068c07fc62505979cb	Fanconi-Bickel syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and @PHENOTYPICFEATURE$.	false
+04a79035b4a18a507790ae931905ca5ce1046e65	Additional data on type of DM, duration of DM once diagnosis, treatment, type of treatment, history of hypertension, chronic kidney disease, @PHENOTYPICFEATURE$, and Fasting Blood Sugar (@DISEASE$) were collated for all cases.	false
+8dcb6dc21a69fbaad04950b765acfcbd4b2bb44b	The patient presented with recurrent @PHENOTYPICFEATURE$, unsteady gait, diplopia and reduced deep tendon reflexes, which met the diagnostic criteria for @DISEASE$.	false
+b612e6e834ab2a0b8f1852e82b602dcd1a661437	Here we report a follow up of this original patient over more than 50 years and show that the typical clinical and laboratory findings of @DISEASE$ (hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and @PHENOTYPICFEATURE$) persist into adulthood.	false
+fa57a8c4f7d8ff57618ea97bff98b9b89be46fc7	These include @PHENOTYPICFEATURE$, age, such prior diseases as malignant tumours, previous surgery, use of oral contraceptives, and such inborn risk factors as @DISEASE$ and homozygous factor V Leiden mutation.	false
+8f0834d56febfa89306e3000fde6a1b5c17d3ca0	CHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, growth delays, deaf-@PHENOTYPICFEATURE$, balance disorders and @DISEASE$.	false
+41ba0056f6e7684f2355ffcbddd7180b487b58a2	The prevalence of other @DISEASE$, @PHENOTYPICFEATURE$, pectus deformity, cryptorchidism, and developmental delay did not differ between the two groups.	false
+478227bf58cb73bd5f0ed7e2ee44f170090c37fa	In humans, heterozygous mutations in the adenosine triphosphate-dependent chromatin remodeling gene CHD7 cause CHARGE syndrome, a common cause of deaf-@PHENOTYPICFEATURE$, balance disorders, @DISEASE$, and olfactory dysfunction with an estimated incidence of approximately 1 in 10,000 newborns.	false
+61c3a08d886546f09ba73723eeb59a4715c4a79d	We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, @PHENOTYPICFEATURE$, microcephalus, premature birth with low birth weight, and @DISEASE$ ranging from minor anomalies to complex malformations.	false
+61bcebd0e30e095ac2fecb708b3fa34bb73b5e62	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, @PHENOTYPICFEATURE$, syndactyly, skeletal deformity, and @DISEASE$.	false
+d5f65ee7531502276cd58fb40344285d5397af92	All four patients had mental retardation and @PHENOTYPICFEATURE$ and three of them showed variable signs of @DISEASE$.	false
+db4c6bdabc7f6d1a33bd0c395741cd74722ba062	Heterozygosity for p53 (Trp53+/-) accelerates epithelial @PHENOTYPICFEATURE$ formation in @DISEASE$ (Fancd2) knockout mice.	false
+6069b63473fce84c6aa8c23cfa593fa57382a035	However, E6 and @DISEASE$-deficiency accelerated E7-driven @PHENOTYPICFEATURE$ development in K14E6E7 mice.	false
+fed41fd3d7ddd4961ca5354c0c9e32bcd32b435e	(@DISEASE$)] and the @PHENOTYPICFEATURE$ volumes [P=0.011	false
+0e416424e584f4f6bb297e55763b456204e308c4	Decreased apparent diffusion coefficient (@DISEASE$) maps reveal ischemic areas displaying cytotoxic @PHENOTYPICFEATURE$.	false
+254f2b8624bab4640baa848397cb97bd116ce21a	increased apparent diffusion coefficient (@DISEASE$) reflecting cytotoxic @PHENOTYPICFEATURE$.	false
+7ce736067da17cd6ab0616d8c2b9e9ede88e57b8	Cytotoxic @PHENOTYPICFEATURE$ and fibrosis were considered as reasons for @DISEASE$ decrease.	false
+fb3556b29927a4abb7e34e93dd0fb2b0b906d87b	Cytotoxic edema and/or vasogenic @PHENOTYPICFEATURE$ on DWI/@DISEASE$ maps may be associated with uremic encephalopathy.	false
+115ecf5c065ab5db71f5ab48c3d48bda1ea7741b	Cytotoxic @PHENOTYPICFEATURE$ and/or vasogenic edema on DWI/@DISEASE$ maps may be associated with uremic encephalopathy.	false
+df481b7a51a6eaa968bb6e77055cd4b1593a920c	We observed that in regions of @PHENOTYPICFEATURE$, the @DISEASE$ was reduced, signifying a predominantly cellular edema.	false
+779a2a5ecbeed13e9b9200121d8c2546dcecbb8f	We observed that in regions of edema, the @DISEASE$ was reduced, signifying a predominantly cellular @PHENOTYPICFEATURE$.	false
+c93e4b05e19fa13ecd1cfd7612c5ad8aa480e864	FLAIR, DWI, and @DISEASE$ maps were interpreted to evaluate the severity and type of @PHENOTYPICFEATURE$.	false
+66b1f1592322017564c335dca0178475b50d79fa	Histogram parameters of whole lesions for distributed diffusion coefficient (DDC), heterogeneity index (?), and @DISEASE$ were calculated by two radiologists and compared among benign lesions, @PHENOTYPICFEATURE$ (DCIS), and invasive carcinoma confirmed by pathology.	false
+b758b2cf9ee83c04ba9a78626ac831c11bc4c3ec	Higher ADC values have been associated with vasogenic @PHENOTYPICFEATURE$, and lower @DISEASE$ values with a predominantly cellular form of edema.	false
+0d7f3d8ff16a172e2d1b2bc3a3d6e2154b628124	Higher ADC values have been associated with vasogenic edema, and lower @DISEASE$ values with a predominantly cellular form of @PHENOTYPICFEATURE$.	false
+13a5827d47f52ce93a91eb36be481b5bb9e4546b	Muscle @PHENOTYPICFEATURE$, apparent diffusion coefficient (@DISEASE$), and fractional anisotropy (FA) were assessed.	false
+c1e40fb32a7288ed5ead9d7f54ff92e63aa515b9	The @DISEASE$ is associated with a wide spectrum of developmental features including @PHENOTYPICFEATURE$, cognitive impairment, hearing loss and vesicorenal anomalies.	false
+183802ddecf2ebe12d7e538d3defb4c15399a0dd	Recent studies have described roles outside complement and immunity of another MBL-associated serine protease, MASP-3, in the etiology of @DISEASE$, an autosomal-recessive disorder involving a spectrum of developmental features, including characteristic @PHENOTYPICFEATURE$.	false
+6c2d578d3ae447d79f123302209a1b971462236d	DUBs can be divided into five subclasses: ubiquitin C-terminal hydrolases (UCHs), ubiquitin-specific proteases (USPs or UBPs), ovarian @PHENOTYPICFEATURE$ proteases (OTUs), @DISEASE$ proteases (MJDs) and JAB1/MPN/Mov34 metalloenzymes (JAMMs).	false
+04fb4cc2244c6e29a08cf1c5290b74ca29169b2c	In this study, we analysed the ovarian @PHENOTYPICFEATURE$ (OTU) and @DISEASE$ protein domain (MJD) proteases found in the Schistosoma mansoni genome database.	false
+e4045f1b60a77f469e5dddecfb06f335f5b198a7	In this study, we analysed the ovarian @PHENOTYPICFEATURE$ (OTU) and Machado-Joseph disease protein domain (@DISEASE$) proteases found in the Schistosoma mansoni genome database.	false
+b0d7b25a1f3e7d3fcb6b2f043fa037c709d6902e	A genetically confirmed case of spinocerebellar ataxia type 3 (@DISEASE$), presenting with disabling foot dystonia, peripheral neuropathy, and minimal @PHENOTYPICFEATURE$ is reported.	false
+7d8211242a00b4eacc0e66984f474f65618df7ce	A genetically confirmed case of @DISEASE$ (SCA 3), presenting with disabling foot dystonia, peripheral neuropathy, and minimal @PHENOTYPICFEATURE$ is reported.	false
+69402a0db4ff96f7e73f4f747c3cada249272c4e	She was diagnosed as @DISEASE$ from neurological findings, which consisted of @PHENOTYPICFEATURE$, pyramidal tract signs and extrapyramidal tract signs and peripheral neuropathy.	false
+81f6b6ba84e568090941c3510e559db1c53a0347	This study was designed to investigate the hypothesis that serotonin pathway genes play a part in mediating antipsychotic-induced adverse reactions, including EPS, @DISEASE$, @PHENOTYPICFEATURE$ and diabetes.	false
+eefdd1766150ac63189ee78faf9129943b645aa3	Multiple studies report promising preliminary data regarding the safety and efficacy of DBS for a variety of neurological indications including chronic pain, @PHENOTYPICFEATURE$, epilepsy, Tourette syndrome, Huntington's disease, @DISEASE$ and Alzheimer's disease.	false
+54370ec5edb95534010c6b7e9f19a06c922ddd6e	Six outcomes associated with use of antipsychotics included: diabetes, @PHENOTYPICFEATURE$, hyperlipidemia, hyperprolactinemia, cardiovascular disease (CVD) (including hypertension, ventricular arrhythmia, and other CVDs), and extrapyramidal symptoms (EPS) (including dystonia, akathisia, parkinsonism, and @DISEASE$).	false
+0b05b970c1f38e86268788163dd1203d929ce3b3	Conference participants reviewed the literature in the following areas: 1) weight gain and @PHENOTYPICFEATURE$; 2) diabetes; 3) hyperlipidemia; 4) prolongation of the QT interval on the ECG; 5) prolactin elevation and related sexual side effects; 6) extrapyramidal side effects, akathisia, and @DISEASE$; 7) cataracts; and 8) myocarditis.	false
+40b4e42f6442e749e001aee4a762f4809912e1b2	We report a 41-year-old female who presented with an isolated @PHENOTYPICFEATURE$ revealing a para-prosthetic aorto-duodenal fistula complicating a @DISEASE$.	false
+144fb58bae13533beed9ae526e7a57808f6e845d	The surgeries performed included left-sided pancreatectomies (n = 10), hepatectomies (n = 7), triple bypass with bile duct exploration for obstructing pancreatic head cancer with choledocholithiasis (n = 1), cholecystectomy for @DISEASE$ (n = 1) and gastric resection for gastrointestinal stromal @PHENOTYPICFEATURE$ (n = 1).	false
+52b6eecf9c353d14d042ceda8350141221325638	@DISEASE$ simulating a @PHENOTYPICFEATURE$ by ERC.	false
+8e8c893453762316d66d8c0ccfaced4faf4d6bfa	The reasons for FFD were dense adhesions preventing the exposure of the cystic pedicle in 14 cases, large Hartmann's pouch stones in 10 cases, short @PHENOTYPICFEATURE$ cystic ducts in six cases, and @DISEASE$ in three cases.	false
+e125d73195b81fb2b12f7a30e6097ac1e0ad6828	Complicated forms of cholelithiasis such as the @DISEASE$, chronic fibrosing cholecystitis, necrotizing infections and @PHENOTYPICFEATURE$ as well as high operative risks are treated better by open cholecystectomy.	false
+af141bf3c0184907c14c70275c22547b25808ff2	Indications were previous lesions of the common bile duct after laparoscopic (n = 10) or open cholecystectomy (n = 5), common bile duct resections in cholangiocellular carcinoma and gallbladder carcinoma with unclear intraoperative safety margins (n = 4), malignant granulosa cell @PHENOTYPICFEATURE$ and simultaneous cholangiocellular carcinoma, focal nodal hyperplasia, @DISEASE$, cystadenoma of the pancreas head, cyst of ecchinococus granulosos and one patient with intrahepatic recurrent stone formation after orthotopic liver transplantation.	false
+5e8c08632a0f624a5352a063f3249281b98c08dd	Primary entities involving the cystic duct include calculous disease, @DISEASE$, cystic duct-duodenal fistula, biliary obstruction, @PHENOTYPICFEATURE$, and primary sclerosing cholangitis.	false
+694014ad145c159bb786ff35baf3f07879f6941f	Endoplasmic reticulum (ER) dysfunction might have an important part to play in a range of neurological disorders, including cerebral ischaemia, @PHENOTYPICFEATURE$, Alzheimer's disease, multiple sclerosis, amyotrophic lateral sclerosis, the prion diseases, and @DISEASE$.	false
+41eca18817b895b430400088f51e53af21d65858	Arousals are thought to predispose to further events by promoting hyperventilation, hypocapnia, and upper-airway @DISEASE$ @PHENOTYPICFEATURE$.	false
+851fa7597be89c807feda3c51afbef3e35dc074f	List of acronyms: BOLD, Blood-Oxygen-Level Dependent contrast imaging in MRI; @DISEASE$, Coma Recovery Scale; CRS-R, Coma Recovery Scale Revised; CSI, Cerebral State Index; CSM, Cerebral State Monitor; DOC, Disorder of Consciousness; EEG, Electro Encephalography; FDG-PET, FluoroDeoxyGlucose-Positron Emission Tomography; FTD, @PHENOTYPICFEATURE$; GABA, Gamma-Aminobutyric Acid; MCS, Minimally Conscious State; M-EEG, Magneto-Encephalography; MRI, Magnetic Resonance Image; MSN, Median Spiny Neurones; PET, Positron Emission Tomography; PVS, Persistent Vegetative Sate; RLAC, Rancho Los Amigos Cognitive scores; SPECT, Single-photon emission computed tomography; TFES, Tinetti Falls Efficacy Scale; 99mTc HMPAO, Technetium hexamethylpropyleneamine oxime.	false
+5434bf05fdfe509a53032ced3e11b079ca3f559a	Caudal regression syndrome (@DISEASE$) is a rare congenital @PHENOTYPICFEATURE$, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome.	false
+56a2dc2e46337aa28aca76bfc0824a0f71ffe576	Patients who are given a diagnosis of @DISEASE$ have a higher premorbid prevalence of anxiety, headaches, gastroesophageal reflux disease, @PHENOTYPICFEATURE$, and infections of the respiratory system and some nonrespiratory sites, which results in higher antibiotic, corticosteroid, and health care use.	false
+7aa08f689a9ac378f9989012e126bee189aa715a	Before diagnosis, patients with @DISEASE$ had a higher prevalence of acute rhinosinusitis, allergic rhinitis, chronic rhinitis, asthma, gastroesophageal reflux disease, adenotonsillitis, @PHENOTYPICFEATURE$, anxiety, and headaches (all P < .001).	false
+b21ce6c9f627a5515429f1c96c76b6daa9aefebd	They were allergic rhinitis, chronic rhinosinusitis (@DISEASE$), gastroesophageal reflux disease, obesity, obstructive @PHENOTYPICFEATURE$, anxiety or depression, dysfunctional breathing (DB) and vocal cord dysfunction (VCD).	false
+ea61e935eee651ace070b920c252345bd19abf3d	In the @DISEASE$ model, two different types of threshold were determined, the threshold for localized seizures (TLS) and the threshold for @PHENOTYPICFEATURE$ (TGS).	false
+0d6ceff90e0453f358741c238192ade9a15f6f9c	Patients with chronic rhinosinusitis (@DISEASE$) demonstrate worse quality-of-life scores than those suffering from chronic obstructive pulmonary disease, congestive heart failure, @PHENOTYPICFEATURE$, or angina.	false
+26deab450e945c2ce8f6d4e0de35a73feb2d76d1	Carisbamate (@DISEASE$, RWJ-333369) is a novel antiepileptic drug awaiting approval for use in the treatment of partial and @PHENOTYPICFEATURE$.	false
+51786060c877ae7b6f60e661011bc1857b29023e	Replication of 13q31.1 association in @DISEASE$ with @PHENOTYPICFEATURE$ in Europeans.	false
+1907497529e93faca5d705c5a64d46089bafe07f	Results for those born with @DISEASE$ and @PHENOTYPICFEATURE$ were inconsistent.	false
+58cb1d655a0184dc805a5df4fc449c553b8eb1c4	Syndromic and @DISEASE$, alveolus, and palate patients who had undergone primary @PHENOTYPICFEATURE$ surgery.	false
+b34cde24d89154f3c54f61e3c544cbfed7d8b005	@DISEASE$ +/- @PHENOTYPICFEATURE$ (CL/P) is a complex trait of unknown etiology.	false
+f1e11754871d7e81c0b98f5600a5fe8083042473	[Counseling for families with @DISEASE$-jaw-palate and @PHENOTYPICFEATURE$].	false
+1c9a2d4244987515412f4535c43759bf0e187bdc	Evaluation of growth in patients with @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+c39ac2db7f02b07c4634fd78a3c2b1ad20d30600	Deficiency of these genes is associated with @DISEASE$ with/without @PHENOTYPICFEATURE$.	false
+de3459290bf3d323ae400c714e4a3fb6f38ae977	The proportion of polygenic liability was about 77 +/- 8% in @DISEASE$ +/- @PHENOTYPICFEATURE$ cases.	false
+17f9829cedd2fe82a58c86e88da1500ab58215d1	The detection rate of @DISEASE$ and @PHENOTYPICFEATURE$ has increased from 32% to 87%.-	false
+a18be9be79e0bc20a6153d77adb092e61c31d46c	Rs2262251 in lncRNA RP11-462G12.2 is associated with @DISEASE$ with/without @PHENOTYPICFEATURE$.	false
+405657da1b7043c9954aa59a90f75c5395856bb3	In particular, seromucinous @PHENOTYPICFEATURE$, @DISEASE$, biphenotypic sinonasal sarcoma, HPV-related carcinoma with adenoid cystic features, SMARCB1-deficient carcinoma, and renal cell-like adenocarcinoma are discussed.	false
+9c356925b7c12186296012c246da4c09b202bb42	The most significant changes in this edition involve (1) use of immunohistochemistry throughout the classification, (2) a new emphasis on genetic studies, in particular, integration of molecular testing to help personalize treatment strategies for advanced lung cancer patients, (3) a new classification for small biopsies and cytology similar to that proposed in the 2011 Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society classification, (4) a completely different approach to lung adenocarcinoma as proposed by the 2011 Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society classification, (5) restricting the diagnosis of large cell carcinoma only to resected tumors that lack any clear morphologic or immunohistochemical differentiation with reclassification of the remaining former large cell carcinoma subtypes into different categories, (6) reclassifying squamous cell carcinomas into keratinizing, nonkeratinizing, and basaloid subtypes with the nonkeratinizing tumors requiring immunohistochemistry proof of squamous differentiation, (7) grouping of neuroendocrine tumors together in one category, (8) adding @DISEASE$, (9) changing the term sclerosing hemangioma to sclerosing pneumocytoma, (10) changing the name hamartoma to "pulmonary @PHENOTYPICFEATURE$," (11) creating a group of PEComatous tumors that include (a) lymphangioleiomyomatosis, (b) PEComa, benign (with clear cell tumor as a variant) and	false
+ed34d215b6907568322350419e107e1a17e28cb1	In this classification, three new entities (seromucinous @PHENOTYPICFEATURE$, @DISEASE$, and biphenotypic sinonasal sarcoma) were included, while the total number of tumors has been reduced by excluding tumors if they did not occur exclusively or predominantly in this region.	false
+bde522505dce39e57d6dfcba374f386e8c993e16	Of note, three new entities (@DISEASE$, seromucinous @PHENOTYPICFEATURE$, biphenotypic sinonasal sarcoma,) were added to this section, while emerging entities (SMARCB1-deficient carcinoma and HPV-related carcinoma with adenoid cystic-like features) and several tumor-like entities (respiratory epithelial adenomatoid hamartoma, chondromesenchymal hamartoma) were included as provisional diagnoses or discussed in the setting of the differential diagnosis.	false
+6f802f840b2f5728b1cc58c30d324dcd88228e2f	Of note, three new entities (@DISEASE$, seromucinous hamartoma, biphenotypic sinonasal sarcoma,) were added to this section, while emerging entities (SMARCB1-deficient carcinoma and HPV-related carcinoma with adenoid cystic-like features) and several tumor-like entities (respiratory epithelial adenomatoid @PHENOTYPICFEATURE$, chondromesenchymal hamartoma) were included as provisional diagnoses or discussed in the setting of the differential diagnosis.	false
+a2a879c25d48d34f21216998f42e1b3aced47d91	Of note, three new entities (@DISEASE$, seromucinous hamartoma, biphenotypic sinonasal sarcoma,) were added to this section, while emerging entities (SMARCB1-deficient carcinoma and HPV-related carcinoma with adenoid cystic-like features) and several tumor-like entities (respiratory epithelial adenomatoid hamartoma, chondromesenchymal @PHENOTYPICFEATURE$) were included as provisional diagnoses or discussed in the setting of the differential diagnosis.	false
+799943c05940411482a80feb595d722be18f5a15	We used resting-state functional magnetic resonance imaging to explore the intrinsic coupling patterns between the amplitude and synchronisation of low-frequency brain fluctuations using the amplitude of low-frequency fluctuations (ALFF) and the functional connectivity density (@DISEASE$) in 16 patients who had mild cognitive impairment with depressive symptoms (D-MCI) (mean age: 69.6???6.2 years) and 18 patients with nondepressed mild @PHENOTYPICFEATURE$ (nD-MCI) (mean age: 72.1???9.7 years).	false
+f319f700de3b1298544d9cdb2a4cdbd2a39d248e	We used resting-state functional magnetic resonance imaging to explore the intrinsic coupling patterns between the amplitude and synchronisation of low-frequency brain fluctuations using the amplitude of low-frequency fluctuations (ALFF) and the functional connectivity density (@DISEASE$) in 16 patients who had mild @PHENOTYPICFEATURE$ with depressive symptoms (D-MCI) (mean age: 69.6???6.2 years) and 18 patients with nondepressed mild cognitive impairment (nD-MCI) (mean age: 72.1???9.7 years).	false
+9bbe105b2dcc1222d341acf51cdaa6c74e9978cd	We compared neuropsychological findings in three groups: functional cognitive disorder (@DISEASE$), mild @PHENOTYPICFEATURE$ (MCI), and healthy controls.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+c233bfb7b05cfe7d6872549a44915a4e3c3bd30a	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$ in children.	false
+29fd5d025bfbe33036c74b64217eec02ad3808c5	We report two siblings with familial @DISEASE$ who presented in their infancy with vomiting and @PHENOTYPICFEATURE$.	false
+b2f75e71fdbc42e5abbae1014804886186721244	@DISEASE$ should be included in the differential diagnosis of children with regurgitation, vomiting and @PHENOTYPICFEATURE$.	false
+0d232b07e42410b0a112d4763f31caf8953f410b	Primary neonatal cricopharyngeal @DISEASE$ due to a spastic cricopharyngeus muscle manifests itself with intractable feeding difficulties, nasal reflux, recurrent aspiration pneumonia and @PHENOTYPICFEATURE$.	false
+1a75a641240fcca23bdf2dd2219492e5c101a54e	Cricopharyngeal @DISEASE$ (CA) is a rare cause of dysphagia in children presenting with non-specific symptoms such as choking, food regurgitation, nasal reflux, coughing, recurrent pneumonia, cyanosis, and @PHENOTYPICFEATURE$.	false
+5bb8e0dc12650adc86ecb5b0e28b4bfe6312eb2e	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @PHENOTYPICFEATURE$, peripheral neuropathy, and @DISEASE$.	false
+2124e6f2d47eb24c685dcacde88380b8cfb9497b	The patient demonstrated @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+3448d9265eb616806d7851c3e5a65cc40a4f50a9	She presented with @PHENOTYPICFEATURE$, coarse facial features, hepatosplenomegaly, severe mental retardation and @DISEASE$.	false
+d50cde103057de9ce3b7e8898a229853644a6647	A sibship consisting of three siblings, one male and two females with unrelated parents, showed a clinical syndrome including: infantile spasms with hypsarrhythmia, @PHENOTYPICFEATURE$, severe mental retardation and @DISEASE$.	false
+fac8ce9a62df462153d5403a059a24bea2cf52e8	We have studied two unrelated girls presenting a static encephalopathy with @DISEASE$, @PHENOTYPICFEATURE$ and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+4e8611bad658002379167a56b50df3c7eaa867b8	Progressive cerebellocerebral atrophy: a new syndrome with @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+df8097e525ef06e7371c3d38b48ea6ea5d6a9c4e	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, microcephaly, short stature, @PHENOTYPICFEATURE$, cerebral atrophy, and periventricular white matter abnormalities.	false
+1be4e634602015dfc3e37a1dd97b3f099c103353	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, short stature, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities.	false
+dfe46c7551436afacffb402cb97662e2c5c9fb83	She had rhizomelic chondrodysplasia punctata, @PHENOTYPICFEATURE$, failure to thrive, delayed motor and mental development, and @DISEASE$.	false
+66f11120052f6308e97389fce32c8a041d4c590c	She had rhizomelic chondrodysplasia punctata, microcephaly, @PHENOTYPICFEATURE$, delayed motor and mental development, and @DISEASE$.	false
+b7649632ec7566ff22c1b79c165d5b60046dbed9	Two related infants with @PHENOTYPICFEATURE$, @DISEASE$, and profound retardation are reported.	false
+e86c10584a6e865edf26e7816c39d0e2d94a796a	Agenesis of the corpus callosum, infantile spasms, @DISEASE$, @PHENOTYPICFEATURE$ and severe mental retardation in three siblings.	false
+c1410877e9260af1a6e16058698cadcbfc10bb54	Distribution of macular ganglion cell layer thickness in @DISEASE$: A new diagnostic criterion for @PHENOTYPICFEATURE$.	false
+9f9d61542a1a02397b7ea3191e5bae65932c1b8a	Here we present two siblings with a phenotype predominated by bilateral ONH, with additional features of @DISEASE$ and distinct @PHENOTYPICFEATURE$, where whole-exome sequencing identified two compound heterozygous missense mutations affecting a conserved amino acid residue within the bHLH domain of ATOH7 (NM_145178.3:c.175G>A;	false
+209453740f76d15e04091feb8937ca47865e8235	The authors describe the evolution of retinal @PHENOTYPICFEATURE$, and, for the first time, document @DISEASE$ (in 4 of their 13 patients).	false
+b6ae7449541b3aebfcc8980f3460f48adb8d81e3	Cases of @DISEASE$ associated with @PHENOTYPICFEATURE$ have not previously been investigated molecularly.	false
+a1b61fc8019abe37a67c5fa7014c81f4fe5e2216	As the stronger association of @PHENOTYPICFEATURE$ with postmenopausal breast cancer in Asian than white women may be due to body fat distribution, we examined the relation of adiposity measures with percent mammographic density (@DISEASE$), a strong predictor of breast cancer incidence.	false
+c8dff5ad16e746f1e10870313a89ba5eba527ad5	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), @DISEASE$, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	false
+3604f1d1b1a4fc27ef6b0491639486c55c871a23	Following induction of @PHENOTYPICFEATURE$, rats were fed @DISEASE$.	false
+d4025ad6c8f79367e856ab33531c33321f9cdc21	(9/12) of @DISEASE$ patients with symptomatic @PHENOTYPICFEATURE$.	false
+677efd8cc93cec7d9c244d6d8e3ef4f4b52bd0b3	An insertional translocation into the proximal long arm of the X chromosome in a boy showing muscular hypotony, @PHENOTYPICFEATURE$, psychomotor retardation, cryptorchidism, and Pelizaeus-Merzbacher disease (@DISEASE$) was identified as a duplication of the Xq21-q22 segment by employing DNA probes.	false
+09bed53ec1f7e024e4578a6dee00be18cf56a20a	An insertional translocation into the proximal long arm of the X chromosome in a boy showing muscular hypotony, @PHENOTYPICFEATURE$, psychomotor retardation, cryptorchidism, and @DISEASE$ (PMD) was identified as a duplication of the Xq21-q22 segment by employing DNA probes.	false
+5e1818eb96b64a9a2fe12e8efac5b09f2242fe4f	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+744b6e7acba24d01c3ed24a97d8929927f73a1aa	There are other less common abnormalities reported in @DISEASE$, which include conjunctivitis, strabismus, congenital cataract, oral leucoplakia, diffuse eccrine poromatosis, @PHENOTYPICFEATURE$, thickened skull bones, and tufting of the terminal phalanges (2,5-8).	false
+05c0be6620351c19dfad26c79bc5dfdadfc26541	@DISEASE$ with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild @PHENOTYPICFEATURE$ and photophobia.	false
+bb49d56f62a52177764d93631917856a7ed232a5	We report on the first Chinese patient with @DISEASE$, who presented at 22 months with status epilepticus secondary to hyponatraemia and @PHENOTYPICFEATURE$.	false
+ddfd2a2eceb17de2d3f505697970553106fe64fb	A syndrome of @DISEASE$, microcephaly, and @PHENOTYPICFEATURE$.	false
+bbc80b51eefa4eb8283714ac31204f94633c70bf	The association of congenital cataract, facial dysmorphic features, and @PHENOTYPICFEATURE$, should guide the diagnosis of dysmorphic syndromes such as Hallermann-Streiff-Fran?@DISEASE$ syndrome.	false
+9cba6c17bae21f58136d2312eaa0895803c03cbe	However, the presence of air-bone gaps and absent acoustic reflexes during the first and second decades support the findings of others, indicating that @PHENOTYPICFEATURE$ is most prevalent in younger individuals with @DISEASE$.	false
+f4f976da6b93d2169214164a02fca4c474c0b533	[Surgical treatment of @PHENOTYPICFEATURE$ in Hallermann-Streiff-Fran?@DISEASE$ syndrome].	false
+dbde5aaed1fb4a7d19841011445883a480285372	We describe a girl with a severe progressive type of @DISEASE$, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including @PHENOTYPICFEATURE$, marked frontal bossing, midface hypoplasia, and micrognathia.	false
+dea45dbee9375bd427e8c6b4fe18d9c21a0e29fc	Two lesions cause the @PHENOTYPICFEATURE$ of @DISEASE$: (1) functional ossicular discontinuity due either to stapes superstructure fracture or fibrous replacement, or (2) thick, crumbly, lightly fixed stapes footplate.	false
+e273be448aa903eb2ed61b062dc2220f7bf920f8	Because of the presence of microphthalmos and @PHENOTYPICFEATURE$ and the absence of auricular deformations the Fran?@DISEASE$ syndrome belongs to neither the craniofacial nor the mandibulofacial dysostoses.	false
+26ac85e5dd03cfd7b6d4e41b9f829f849201ce46	Cochlear hair cell loss, stria vascularis atrophy and calcification, tectorial membrane distortion and perilymph hemorrhage are autopsy findings that could account for @PHENOTYPICFEATURE$, which occurs in a surprisingly high percentage of @DISEASE$ patients.	false
+368bb088a91ec34f108355e4171149834a0f0460	We report the case of a patient with Hallermann-Streiff-Fran?@DISEASE$ syndrome, with typical presentation of white bilateral @PHENOTYPICFEATURE$.	false
+888dbcb8ceb3c26c9d117cc9df10a9f18eac8502	They include transient monocular @PHENOTYPICFEATURE$ (TMVL), ocular ischemic syndrome (@DISEASE$), retinal artery occlusion (RAO), and asymptomatic Hollenhorst plaque.	false
+40989162a31dca8d9e52b31f26da486a65835198	TECTA-related @PHENOTYPICFEATURE$ can be inherited as @DISEASE$ (designated DFNA) or as the autosomal-recessive version.	false
+c5c988895e95a75cd1ca929115c426db4d8c016d	For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic @PHENOTYPICFEATURE$ (DFNB2), and @DISEASE$ (DFNA11).	false
+3248b3813613514a66bf8bdda74dee1b1fdd4ebb	It was presumed X-linked dominant in 34 Alport's syndrome and 6 hereditary nephritis without @DISEASE$ in five hereditary nephritis and one hereditary nephritis without @PHENOTYPICFEATURE$, and autosomal recessive in two Alport's syndrome.	false
+c0e1a939065e5452140f35657e88b08c83564622	CONCLUSIONS Overall, resection of large VSs provided improved outcomes for patients with concomitant TN, facial @PHENOTYPICFEATURE$, and numbness compared with @DISEASE$.	false
+8141e0897f86d968e91b92fb97b0a90b0f84e75a	All animals were monitored by video and electrocorticography (ECoG) to assess @PHENOTYPICFEATURE$ (SE) and subsequent spontaneous recurrent seizures (@DISEASE$).	false
+519ae2394304322a0ebebdaee391c6848ae11c8c	In humans FOXP1 mutations have been associated with language and speech defects, intellectual disability, autism spectrum disorder, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b1f71f4281a0df33a7030f5d7209438fd93d659c	@DISEASE$ (Forestier's disease) is a common disorder found in the spinal region, but the notable finding in this case presentation is the associated dysphagia and @PHENOTYPICFEATURE$ that occurred with it.	false
+e1633382800b9eafcdd6a44907d67503eb9f1734	To investigate cross-sectional and longitudinal associations of @DISEASE$ (DISH) and @PHENOTYPICFEATURE$ in older persons.	false
+a4f4454977241773b54b3a16e1709cda7cbc9d37	These included 29 malignant lymphomas, 8 neuroblastomas, 12 Ewing's sarcomas, 3 metastatic retinoblastomas, 3 @DISEASE$ rhabdomyosarcomas, and 4 unclassified @PHENOTYPICFEATURE$.	false
+4650211f9ff6b6b9ec80378b08cabea8e133cfb4	The histology of the primary @PHENOTYPICFEATURE$ was: 13 cases with @DISEASE$ cases with Ewing's Sarcoma and 1 case with Neuroblastoma, Rhabdomiosarcoma, Hepatoblastoma and Neuroectodermic Tumor of Askin.	false
+f8e63a9a08980b7d3e2788989a668c80155ebec9	The infectious diseases included were HIV/AIDS, tuberculosis, hepatitis B, @PHENOTYPICFEATURE$ C, @DISEASE$, diarrheal diseases and other infectious diseases.	false
+a565a14cfd51a66bff83126c70c3506bac89248a	[Frequency of HIV-1, rubella, syphilis, toxoplasmosis, cytomegalovirus, simple herpes virus, hepatitis B, @PHENOTYPICFEATURE$ C, @DISEASE$ and HTLV I/II infection in pregnant women of State of Mato Grosso do Sul].	false
+bba921f1488514324d4c2c86ddf454ec9320abf7	The frequence of infarcts and atrophy was higher in the cases of @DISEASE$ and the @PHENOTYPICFEATURE$ was seen in an younger group of patients compared to the cases of idiopathic cardiomegaly.	false
+33c5a607e1d0d227371be708f44957267395b57b	Triatoma pseudomaculata Corr?a and Esp?nola, 1964 and Triatoma juazeirensis @PHENOTYPICFEATURE$ and Felix, 2007 ( = T. brasiliensis Neiva, 1911 [part]), are sylvatic vectors of Trypanosoma cruzi (Chagas, 1909), the causative agent of @DISEASE$, in northeast Brazil-especially in the caatinga region.	false
+ba15e8b98d05a26c42831be54f9c476d046421d9	Brain atrophy, rather than multiple infarcts, may represent the main anatomical substrate of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+069e3f670a63213318ac6c582c8f36522e13e213	Limited clinical data suggest that chronic Trypanosoma cruzi infection, which causes @DISEASE$ (ChD), is associated with @PHENOTYPICFEATURE$.	false
+c6494492dc132f8602eb58b50e77312fd12ab3e0	It seems that there is another factor also responsible for the occurrence of @PHENOTYPICFEATURE$ in @DISEASE$, since from the clinical and hemodynamic point of view both cardiopathies have many similarities.	false
+7ea30f84770f2673379acbfe2e7bb32ad9ba1a34	The authors provide a discussion of the differential diagnosis, evaluation, and management of @PHENOTYPICFEATURE$ and dizziness in the adolescence with emphasis on migraine headaches, chronic daily headaches, @DISEASE$, and presentations that may require head imaging.	false
+6c0ceb17ce0822715ccb5b8634ca63e37d7ed634	We describe a case of A-fib in a 50 year-old female patient with @DISEASE$ (NF-2), who was prescribed dexamethasone for post-radiation tumor @PHENOTYPICFEATURE$.	false
+dee652731761ccc836c352bcbcb0f2143ffaa633	Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with @PHENOTYPICFEATURE$, type III @DISEASE$, and congenital heart disease.	false
+fae808840866b52231280e527f67db5b3213d201	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d0f9337b5e73df36919103db0ff4d0e8de91e0b2	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+47da1dc1f84c7ec682c1deb15063c28a4fd7f008	A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with @PHENOTYPICFEATURE$, type III @DISEASE$, and congenital heart disease.	false
+919eedbb17218229a641446e7ef7f83708c59be8	[@DISEASE$ with @PHENOTYPICFEATURE$.	false
+cd98d70082d12bd83664beb1c9bbd2de3edf3393	The present study confirmed that there is a negative association of head posture and @DISEASE$ whereas, cervical @PHENOTYPICFEATURE$ was present in Group I only.	false
+2d4ead9c17ed7821bab4291cb92bcbfdab70746f	Temporomandibular disorder (@DISEASE$) pain, @PHENOTYPICFEATURE$, migraine and tension-type headache are more prevalent in women than in men.	false
+5846be9fe68d937e8da445f2ea647a1753678959	This study assessed the relationship of back pain, headache, @PHENOTYPICFEATURE$, @DISEASE$ pain, and the presence of multiple pain conditions to gender and pubertal development in a cross-sectional, population-based survey of adolescents.	false
+633dc393a6280cc9b195173982526037a7090918	Results showed a tendency for subjects with more severe @DISEASE$ to exhibit cervical spine @PHENOTYPICFEATURE$.	false
+1033643b7a4bc7ea624f21c5bfa11a2221920407	These subgroups were not significantly different, but the subgroup with more severe @DISEASE$ showed a tendency to cervical spine @PHENOTYPICFEATURE$ prevalence.	false
+96afec861a2de42a18761c60596d050c1ac4daa9	Subjective oral evaluations were carried out for each subject, including oral pain (Melzack scale) for glossodynia, throbbing, aching, etc.; temporomandibular joint dysfunction (@DISEASE$); xerostomia (including intake of fluids, functional problems, etc.); dysphagia; dysgeusia; and information about frequent @PHENOTYPICFEATURE$ or lesions.	false
+f69ffa4da9d413d927a2b8c410d9df1e01e88564	Over the three year follow-up interval, rates of first onset were: 17.7% for back pain; 4.2% for severe headache; 3.0% for chest pain; 3.1% for @PHENOTYPICFEATURE$; and 6.5% for @DISEASE$ pain.	false
+e148f8daf59ef006ab52afb948433ca63ea653b6	There were not significant differences in onset rates of back pain, @PHENOTYPICFEATURE$ or @DISEASE$ pain by severity or chronicity of depressive symptoms.	false
+94dc36584a57f04eee9d11e580cb52eb83f9154b	Pazopanib is an oral multikinase inhibitor that has proved effective in adults treated for relapsing @PHENOTYPICFEATURE$ and @DISEASE$ in particular.	false
+5b766d09401b14a2f5f755891ef838125ae60a85	In the @PHENOTYPICFEATURE$, the biphasic morphology was focal and there was an abrupt transition to poorly differentiated @DISEASE$.	false
+7d272ac2bda5204110e6b69705332e73876916fa	We report a case of @DISEASE$ in the parapharyngeal space of a 13-year-old boy with a history of neurofibromatosis presented with odynophagia, @PHENOTYPICFEATURE$ and left submandibular mass.	false
+396c0f0c859889cb8e4c64a526a2247cc23db461	@DISEASE$ presenting as @PHENOTYPICFEATURE$.	false
+3429698c16baea9f647a8e1b90dad013550392e6	Phf6 gene expression and nuclear localisation of Phf6 protein correlate with clinical symptoms in BFLS patients, namely @PHENOTYPICFEATURE$, @DISEASE$-anterior pituitary hormonal deficiency and facial as well digit abnormalities.	false
+4740b9b2f2daa645dc53f90db21bd78246fd56f5	His association with Ophthalmological type @DISEASE$ uveitis and/or neurological type of @PHENOTYPICFEATURE$ and/or inner ear type of hearing loss determines the disease or Vogt -Koyanagi-Harada syndrome (VKH).	false
+69492be131202b48524020c6c41d5747711c2d9a	@DISEASE$ attacks and temporal lobe @PHENOTYPICFEATURE$ associated with a right temporal lobe arteriovenous malformation: case report.	false
+5f816f6aca88c89e4c866b8e4b5b4b1b98d646df	@DISEASE$ attacks and psychomotor @PHENOTYPICFEATURE$ following right temple lobectomy.	false
+11c2f2bd401da2cd227e8fe65dd29d91390f59e9	It is a rare @DISEASE$-ethnic disease with a clinical presentation distinct from that of other urea cycle disorders, and hyperammonemic @PHENOTYPICFEATURE$ is not usually observed.	false
+441f749c7b4fd1c20c82ea4a20ff796474e773d2	We report a case of bilateral @PHENOTYPICFEATURE$ most likely caused by @DISEASE$.	false
+d90a54f4d5b96ecb1ef299e670a2d4c4a861ec5e	Our patient had refractory chronic lymphocytic leukemia and PVB19 in bone marrow and serum; he presented with 6-week history of progressive @DISEASE$-@PHENOTYPICFEATURE$.	false
+810f3478426dff79bbdf0a12ea7aab047dfd66c0	@DISEASE$ associated with spastic paraparesis and @PHENOTYPICFEATURE$.	false
+34b89acf40f5e92805ce95c72cfa9415487c7c48	[A case of @DISEASE$ associated with spastic paraparesis and @PHENOTYPICFEATURE$].	false
+7214a58c19ca35eb40c9aea6e0ea6a117d69e9ec	[@DISEASE$ with early onset with hyperandrogenism caused by ovarian hyperthecosis, acanthosis nigricans and @PHENOTYPICFEATURE$].	false
+ac0f5997b2f92653da7cabe79160823917b69ea3	Some of the neurological complications are secondary to premature cerebrovascular disease, but the pathogenesis of @PHENOTYPICFEATURE$ and myelopathy in patients with @DISEASE$ is uncertain.	false
+417c40006ec71bb9c0797729e5eaba56694c93a3	Waardenburg syndrome (@DISEASE$) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by @PHENOTYPICFEATURE$ and iris discoloration.	false
+e645c647f8c8befb2c73b153d61a95b5eb93108b	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called @DISEASE$. In this paper we describe an 18-year-old girl with borderline mental impairment, @PHENOTYPICFEATURE$, retinal degeneration, short stature, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+1ca6b1fd70202ded1c480d1bbdf237efc385eeab	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild @PHENOTYPICFEATURE$; this condition has been called @DISEASE$. In this paper we describe an 18-year-old girl with borderline mental impairment, seizures, retinal degeneration, short stature, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+cf42265d16e6db9bafa980ed09dee125c1364b38	The most frequently mutated genes were @PHENOTYPICFEATURE$ protein p53, cyclin-dependent kinase inhibitor 2A, @DISEASE$, rapamycin-insensitive companion of mammalian target of rapamycin, epithelial growth factor receptor, SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4, cyclin-dependent kinase inhibitor 2B, phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit ?, Kirsten rat sarcoma viral oncogene homolog, Erb-B2 receptor tyrosine kinase 2, Serine/Threonine Kinase 11, and NK2 Homeobox 1.	false
+246a282d8c87d6068c7f9787566007c777e22916	We report a case where acremonium was responsible for causing a @PHENOTYPICFEATURE$ (@DISEASE$) despite antifungal prophylaxis.	false
+b173f568d60efe15b023b863afaa21ccd392640a	Clinically, all patients presented the @DISEASE$ syndrome (subcutaneous @PHENOTYPICFEATURE$, sinus tract and "granules"), with a evolution of six months to three years.	false
+ad0fae673b121f5468de87a8096bd40a2054669b	The clinical and cytomorphological features of lymphocutaneous nocardiosis closely mimic the most common infections in India such as tuberculosis and @DISEASE$ (very common @PHENOTYPICFEATURE$ with discharging sinus).	false
+6845ac3e9a16c154f5897b30f4a58f9ac830fc09	The fungus can also cause @PHENOTYPICFEATURE$ and @DISEASE$ in the immunocompetent; such infections occur in extremities open to trauma.	false
+86a6f4e0a38487c46667f6818c3405e9b12b1ddc	The most common causes of @PHENOTYPICFEATURE$ are atherosclerotic disease and @DISEASE$.	false
+7b31af5884f3339fea3c2a2e84d60174a9158751	This case demonstrates a casuistically rare form of association between @DISEASE$ of the coronary arteries and @PHENOTYPICFEATURE$.	false
+df41ebe8ac8038eeb25d153af63350c7171e1951	Six were affected by @DISEASE$ and associated @PHENOTYPICFEATURE$.	false
+8b78669fb776e9f8c79b209c6120cc09d531c7e6	@DISEASE$ (FMD) is a significant cause of @PHENOTYPICFEATURE$, especially in young females.	false
+21b205487a739c13a28ce81c3599b13d7fd208e8	@DISEASE$ is a less common cause of @PHENOTYPICFEATURE$ and is most frequently observed in premenopausal women.	false
+d769f6098df470f7f0a853c7cfd2a1a97518458f	The most common cause of @PHENOTYPICFEATURE$ is @DISEASE$, resulting in at least 60% of renovascular hypertension cases.	false
+a95fe8f2d7715319514d26e9a18e1f95c2087be6	@DISEASE$ (FMD) is an important cause of @PHENOTYPICFEATURE$, particularly in young females.	false
+cd782375e96a7d53862f053ead27eab241828879	Successful stenting of bilateral @PHENOTYPICFEATURE$ due to @DISEASE$ assessed by use of pressure guidewire technique: a case report.	false
+3e3aec28f0c13e16d2ca7e52474b5afdd5b1d14e	About 90% of patients with @PHENOTYPICFEATURE$ have atherosclerosis, and 10% have @DISEASE$.	false
+6e4feeb5024bf2f7ceba17e6a1b58edabd7570a4	Surgical revascularization of bilateral @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+c3565f371e83342498f9a48c098cde8c546c906f	@DISEASE$ leads to @PHENOTYPICFEATURE$ and a profound sensitivity to alpha-difluoromethylornithine.	false
+ab235eef8b02322032183ad33b9c3e6170b62069	Maternal UPD for chromosome 7 (matUPD7) results in Silver-Russell syndrome (SRS) with typical features and @PHENOTYPICFEATURE$, but no gene has been conclusively implicated in @DISEASE$.	false
+0ec2b845daccdfddc06c65afef32554dc8593fd0	Maternal UPD for chromosome 7 (matUPD7) results in Silver-Russell syndrome (@DISEASE$) with typical features and @PHENOTYPICFEATURE$, but no gene has been conclusively implicated in SRS.	false
+9fb4e99d827fd889f778deba0c24bbff3a6a866d	The main clinical features are mild intellectual deficiency, growth retardation, and a typical Silver-Russell syndrome (@DISEASE$) appearance with small triangular face, prominent forehead, @PHENOTYPICFEATURE$, low-set ears, and clinodactyly.	false
+14e2833ba2e7314cdf24fd6f12e3fa652441ac7e	The main clinical features are mild intellectual deficiency, @PHENOTYPICFEATURE$, and a typical Silver-Russell syndrome (@DISEASE$) appearance with small triangular face, prominent forehead, micrognathia, low-set ears, and clinodactyly.	false
+0ce61146101464d293e64e6b377d29f5f46c61aa	In conclusion, we reconfirm the utility of performing a genome-wide scan to achieve a differential diagnosis in patients with SRS or similar features and to highlight novel chromosome alterations associated with @DISEASE$ and @PHENOTYPICFEATURE$ disorders.	false
+fe78de5c351a2f1cd5d5b6f47ae243aadc7d6f14	In conclusion, we reconfirm the utility of performing a genome-wide scan to achieve a differential diagnosis in patients with @DISEASE$ or similar features and to highlight novel chromosome alterations associated with SRS and @PHENOTYPICFEATURE$ disorders.	false
+e24e11d7cccb471c816a93fc1000a88af032b23a	Hypomethylation related to a more severe @DISEASE$ phenotype, in which especially asymmetry and @PHENOTYPICFEATURE$ were significantly more common.	false
+801638c9ec208abe7c704a93c0e7fd4477e652d7	Silver-Russell syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder with a very broad molecular and clinical spectrum.	false
+2f1c38e4587c0471d5a1b1784a0ed1564fec08e1	This confirms the central role of imprinted genes in 7q32.2 in the etiology of a @PHENOTYPICFEATURE$ phenotype associated with @DISEASE$ features.	false
+655e79399014e545dd83b205c64c609239d2cbfb	We report on the pre- and post-natal features of three unrelated @DISEASE$ patients with unusual @PHENOTYPICFEATURE$ (CHDs).	false
+136960b24bd8085538cac05917250fd95db87e80	Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and Silver-Russell syndrome (@DISEASE$) associated with @PHENOTYPICFEATURE$.	false
+28e8408e3c7101ba529c83b99d79a3ba4a5363e8	Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by @PHENOTYPICFEATURE$ and Silver-Russell syndrome (@DISEASE$) associated with growth retardation.	false
+c09e9155adc7718eeb18cbae59c05ca5cde69376	Suitable radiological targets for @DISEASE$ were defined as solid tumours < 30 mm maximum diameter with no @PHENOTYPICFEATURE$ and no symptomatic mass effect.	false
+c079f29b33c6d186f2a4adde36bf5523a8340629	Four of the five children with HCC had underlying predisposing conditions (2 hepatitis B, 1 @PHENOTYPICFEATURE$, 1 @DISEASE$).	false
+2e5bcaa8d80107c6fe8d12df4d31179f3936b68d	Bile acid were extracted from 5 ml of urine obtained from five healthy children or from twenty patients with various liver diseases including patients with unknown chronic liver diseases, Zellweger syndrome, peroxisomal bifunctional protein deficiency disease, @DISEASE$ type 1, @PHENOTYPICFEATURE$, and patients with progressive familial intrahepatic cholestasis (PFIC) of undetermined type.	false
+8eb8b3f0261e257778a3621e8a6e6fa709fdb262	The primary liver diseases among these patients were as follows: Crigler-Najjar syndrome, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ea5632072eabda86bf286eebefd86467abddf807	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal hepatitis or @PHENOTYPICFEATURE$, positive results from newborn screening, @DISEASE$, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	false
+375fc9ba9e31260450f5c10ae21ccaf003c17410	Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), @PHENOTYPICFEATURE$ (4) and @DISEASE$ (2) were the most commonly diagnosed IEMs.	false
+30a9318c8e45aebd1d6bdd950cf76128392855dd	The most common indications for OLT were @PHENOTYPICFEATURE$ (8) and @DISEASE$ (7).	false
+0a3b55d7fae2b2e8c81ca1493c9417683fa50fc9	Primary liver diseases included @DISEASE$ (3), @PHENOTYPICFEATURE$ (2), chronic active hepatitis B (1), chronic active non-A non-B non-C hepatitis (1), idiopathic neonatal hepatitis (1), and neonatal iron storage disease (1).	false
+ec080008b709accc0acabd933fa09f0154feb4b9	The main indications were Wilson's disease (20.3%); cryptogenic cirrhosis (16.7%); autoimmune cirrhosis (14.5%); @PHENOTYPICFEATURE$ (13.8%); @DISEASE$ (9.4%); and progressive familial intrahepatic cholestasis (8.7%).	false
+1f2d2fe105d46656ff8fe24d2c0b95ea4c43d7e7	Livers of five children aged three years or less undergoing liver transplantation due to @DISEASE$ (n = 1), @PHENOTYPICFEATURE$ (n = 2), or fulminant hepatitis (n = 2) were analyzed for senescence associated beta-galactosidase (SA-betagal) activity and p16INK4a, p21cip1 and p53.	false
+9d2f6084f8e1bda7d4c0af25de363b784434a67c	@PHENOTYPICFEATURE$, hyperpigmentation, cutis laxa, endocrine abnormality, and mental retardation--the @DISEASE$.	false
+8cac563a637f6617d10ea6abb145a26168237cc4	Alzheimer's disease (AD) is a @PHENOTYPICFEATURE$ brain disorder and the most common form of dementia coming along with @DISEASE$ (CAA) in more than 70% of all cases.	false
+8b1bfe1fb7ab92c38b24a7b6b61e2a438715eac6	Familial Danish Dementia (FDD), an early-@PHENOTYPICFEATURE$ non-amyloid-? (A?) cerebral amyloidosis, is neuropathologically characterized by widespread @DISEASE$, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (AD).	false
+2cf6daa955fede8f8069443e341578e1cd5c50e1	To localize a gene causing a newly described autosomal dominant @PHENOTYPICFEATURE$ characterized by corneal endothelial dystrophy, iris hypoplasia, congenital cataracts, and corneal stromal thinning (@DISEASE$).	false
+c5f81012efcc7a2a92ec048e072e5cd8d87e25bd	A 31-year-old man, who had undergone splenectomy 18 months previously because of @DISEASE$, suddenly became ill, with fever, @PHENOTYPICFEATURE$, epigastric pain and shock, and died 10 hours after the onset of his symptoms.	false
+bf7038de38b1f8d9d783fc1355ae0cf3bb5cbcaa	Patient 1 was a 15-year-old Japanese boy clinically diagnosed with @DISEASE$ with mild developmental delay, but with no imperforate anus or @PHENOTYPICFEATURE$.	false
+d650669dc06b1643c1ae63f24e300b7088f79e04	On laparotomy in a 33-year-old woman presenting with signs of chronic cholecystitis and @DISEASE$, a @PHENOTYPICFEATURE$ (diameter 4.5 cm) of the right lobe of the liver was found and resected.	false
+3a84f3316dbba60de57433731723e062f9a50a90	This article describes various general rules and routines which have been established in our department, as well as the specific systems used to measure the quality of our surgical service in three special fields: Care of patients with @PHENOTYPICFEATURE$ mammae, care of patients with @DISEASE$ disease, and prospective registration of complications for all gastroenterological patients in our surgical department.	false
+6c3b75e3fd08b7eae5a62bdfd366dad307de28e1	Most cholecystocolic fistulae are late complications of @DISEASE$ disease, but can also develop following carcinoma of the gallbladder when the necrotic @PHENOTYPICFEATURE$ penetrates into the adjacent colon.	false
+c9f3a089a328c401dbe83e4ed6a5305969796abb	The causes of hemobilia include trauma, @DISEASE$ disease, vascular malformation, inflammation, and biliary or hepatic @PHENOTYPICFEATURE$.	false
+e33a5885aa06becbae8029b72b7f4e77af9455b3	The high incidence of @DISEASE$-related gall bladder cancer in India is associated with metaplasia and a tendency to poorer differentiation in the @PHENOTYPICFEATURE$ histology.	false
+f9bffb7a819c140572faecb440c203f3e9a13188	Japanese patients (11 patients) were older (median age, 72 years [range, 54-81 years]) compared with patients from Chile (21 patients; median age, 59 years [range, 32-73 years]) and the United States (49 patients; median age, 66 years [range, 46-87 years]) (P?=?.002) and had more well-differentiated @PHENOTYPICFEATURE$ (46% vs 0% for Chile/United States; P?<?.001) and fewer @DISEASE$-associated cancers (36% vs 67% for Chile and 69% for the United States; P?=?.13).	false
+57a5c2ed285b9f2df516885ce8f7d89199907504	Strongly expressed in the liver and intestine, FXR has been shown to be the master transcriptional regulator of several entero-hepatic metabolic pathways with relevance to the pathophysiology of conditions such as cholestasis, fatty liver disease, cholesterol @DISEASE$ disease, intestinal inflammation and @PHENOTYPICFEATURE$.	false
+ca53f762507714b23986fdc9935fe483e43a2479	We report a rare case of a patient operated on with a diagnosis of hepatic @PHENOTYPICFEATURE$ and @DISEASE$ disease, which postoperatively was found to be a hepatocellular carcinoma associated with a gallbladder carcinoma.	false
+29788edbad1cce7b9c3c26d4a7b37f5f43cac839	This finding, as well as previous reports on estrogen receptors in diverse human @PHENOTYPICFEATURE$, support the hypothesis that estrogen influences the development of @DISEASE$ disease and gallbladder carcinoma.	false
+5f8c4053ddc734d786f74af9aca34c8f938b1748	This review will focus on the role of ERCP in specific causes of acute pancreatitis, including microlithiasis and @DISEASE$ disease, pancreas divisum, Sphincter of Oddi dysfunction, @PHENOTYPICFEATURE$ of the pancreaticobiliary tract, pancreatic pseudocysts, and pancreatic duct injury.	false
+3217a010391950be45bc4a0ad0fe6f8c7a29ed17	Peritumoral @PHENOTYPICFEATURE$ and prognosis in @DISEASE$ surgery.	false
+2fa660164cb477ab299c892b2c067def1128b61f	Peritumoral @PHENOTYPICFEATURE$ after stereotactic radiosurgery for @DISEASE$.	false
+ca2ce99c3d17227276cff73318574f9af0481b07	Symptomatic @PHENOTYPICFEATURE$ is a potential complication of @DISEASE$ radiosurgery.	false
+0473e4553c866e43dfbc46c5815e6ed573987a0f	Peritumoral @PHENOTYPICFEATURE$ in @DISEASE$: a contrast enhanced CT study.	false
+e21ddd0a6cb25801d5c93df336a1e88d29ff4f7d	and @PHENOTYPICFEATURE$ versus @DISEASE$ (P= .002).	false
+a664d1c4e2fae3aba2e04f527ca53fab0b7f10fe	Post-Treatment @PHENOTYPICFEATURE$ after @DISEASE$ Radiosurgery is a Predictable Complication.	false
+dd8d81f923fec05929bd6b3cb3bf8d043db332da	However, the pathogenesis of @DISEASE$-associated @PHENOTYPICFEATURE$ remains unclear.	false
+0742d9d08a4011f0f41df1cec82b50dd0e792527	Prognostic value of peritumoral @PHENOTYPICFEATURE$ and angiogenesis in @DISEASE$ surgery.	false
+a49d8f2968f9691238d67ececcb75108318114f1	Pericytosis and @PHENOTYPICFEATURE$ generation: a unique clinicopathological variant of @DISEASE$.	false
+efcb3319f7374c8e017ee825d7e5924975809a66	Intracanalicular @DISEASE$ with chronic optic disc @PHENOTYPICFEATURE$.	false
+6989e806c548b7a8f5d8038c3f9699609c9c0189	@DISEASE$ (GBM) is a highly infiltrative and invasive form of @PHENOTYPICFEATURE$ with little response to therapy.	false
+85a6717616e6b123a2eabe77e5ccd219c529ac54	Zika virus infection induces MiR34c expression in @DISEASE$ stem cells: new perspectives for @PHENOTYPICFEATURE$ treatments.	false
+dad4f2393ed09ebf333df489548ce00a4724bb7d	@DISEASE$ (GBM) is the most common and aggressive @PHENOTYPICFEATURE$ with poor clinical outcome.	false
+7af7b461cb519d0d4967eee47dd7ee45c2b2f71b	ZIKV treatment has recently been found to also have a benefit against @DISEASE$, a highly aggressive @PHENOTYPICFEATURE$ with a poor prognosis.	false
+ab70ee380ad4d9848d8001c3cefdb7e6b13fca0c	@DISEASE$ (GBM) is a highly vascularized and aggressive @PHENOTYPICFEATURE$.	false
+4fab632f360cc3138955d5679cea1eb69b176b87	@DISEASE$ (grade IV glioma) is the most common and aggressive adult @PHENOTYPICFEATURE$.	false
+be04151c236e67f9bdee829169d10cef12d2c8d4	@DISEASE$ (GBM) is the most aggressive type of @PHENOTYPICFEATURE$, and the prognosis remains poor.	false
+781a1ada29dca2c9ddb42716a370f7e83901e67f	Little progresses have been made in the treatment of @DISEASE$ (GBM), the most aggressive and lethal among @PHENOTYPICFEATURE$.	false
+4720ac6be3f4cc932b1aa28ffc912425843ceff3	EGFRvIII is the most prevalent @DISEASE$ @PHENOTYPICFEATURE$, occurring in more than 25% of glioblastomas.	false
+3ea1c9c1720c15d245d7ea9a007906b4bbe55c8c	In this review, we will summarize the most recent advances and putative applications of liquid biopsy in @DISEASE$, the most common and malignant adult @PHENOTYPICFEATURE$.	false
+077a953a2bf51af05fd828825e8dda38317f5e52	A number of studies have established the entity of seasonal affective disorder (@DISEASE$) and delineated the presence of atypical depressive features of carbohydrate craving, hyperphagia and @PHENOTYPICFEATURE$.	false
+92c2ed8e75cde09c58feca71feb5ad181fc4fe85	An extreme form of seasonality is manifested as the clinical syndrome of seasonal affective disorder (@DISEASE$) with carbohydrate craving, @PHENOTYPICFEATURE$, lethargy, and changes in circadian rhythms also evident.	false
+09dfee2d6341edfe2fe9016136a382160a5fc2f4	Seasonal affective disorder (@DISEASE$) is characterised by recurrent episodes in autumn and winter of depression, @PHENOTYPICFEATURE$, augmented appetite with carbohydrate craving, and weight gain, and can be successfully treated with bright light.	false
+28b0c7edf82d50123468d775829ead3c7b4c871c	Among responses of 293 @DISEASE$ patients on a symptom questionnaire, complaints of winter hypersomnia (80%) greatly exceeded insomnia (10%), @PHENOTYPICFEATURE$ plus insomnia (5%), or no sleep difficulty (5%).	false
+bf692b57a33374e049f955cf94e7b123f7c02bf5	@DISEASE$ patients scored significantly higher than non-seasonal MDD patients in hyperphagia and @PHENOTYPICFEATURE$, and significantly lower in interpersonal sensitivity and other rejection avoidance.	false
+bfd050ade249674e28f685fb8b9cf8b82563dbd7	We describe 29 patients with @DISEASE$; most of them had a bipolar affective disorder, especially bipolar II, and their depressions were generally characterized by @PHENOTYPICFEATURE$, overeating, and carbohydrate craving and seemed to respond to changes in climate and latitude.	false
+544fba2f9b74352fd556c62547edbd7fa960d079	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), @DISEASE$ (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique @PHENOTYPICFEATURE$.	false
+f6686f7273d7d0523f989da1bdab2bff7a98891c	Exposure to ACR causes neuropathy and associated neurological defects including @PHENOTYPICFEATURE$ and skeletal muscle weakness, due to impaired neurotransmitter release and @DISEASE$ neurodegeneration.	false
+450d6a6f78cb60c94e864fd25ffc2a14e3116c2b	Unilateral renal injury, whether caused by @PHENOTYPICFEATURE$ or ischemia, is followed by an increase in RVR, a decrease in RBF, and @DISEASE$ tubular atrophy.	false
+18636511727d3491b6b5f23ed9006657435c05b9	@PHENOTYPICFEATURE$ can cause shoulder dislocation, recurrent instability and @DISEASE$ arthritis.	false
+bae20548abe52b7ac4b0eda9aba4c3fcf9df68b3	The neural phenotype of AT includes progressive cerebellar neurodegeneration, which results in @PHENOTYPICFEATURE$ and @DISEASE$ motor dysfunction.	false
+c377812e83506162192a78ee7fd1cd8653a21849	Finally, he substantially contributed to the understanding of the pathophysiology of conditions like the vesico-ureteral reflux, the anterior wall defects (@DISEASE$/omphalocele), and the @PHENOTYPICFEATURE$.	false
+cd047c5ffa18498e306ccd83d04c9a0a84723d75	However, new manifestations, such as @DISEASE$ and @PHENOTYPICFEATURE$ were observed and the incidence of cardiac defects was increased in fetuses due to the combined treatment.	false
+53ea4e56401dd54154b901bc1774a07028141f8b	Clinically the syndrome may present with progressive ataxia, spontaneous and reflex, coarse myoclonic jerks and @DISEASE$ @PHENOTYPICFEATURE$ as well as epilepsy and muscle wasting.	false
+f04dc2baf05f2d5a3fbf34efd45f8ce6e3ee18e3	head-movement and @DISEASE$ @PHENOTYPICFEATURE$ was observed.	false
+dc33982df9084ba44d3619186e0b165e47ebe0b5	Severe developmental delay or @DISEASE$ @PHENOTYPICFEATURE$ can be the consequence of inadequate high T4-levels during fetal and neonatal life.	false
+6db3d793c19aaa6007efe33c8b5d80aeef53f06c	Increasing trends of @DISEASE$ and Down syndrome among non-Hispanic blacks and decreasing trends of @PHENOTYPICFEATURE$ and limb deficiencies were observed in NYS.	false
+4c3831cf1e305ff5950d43e4dd87da6f1b8b662c	Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, @PHENOTYPICFEATURE$, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and @DISEASE$.	false
+84c08eeee83f166b5cb7ce9f7265e616bbb6469a	Progress has been achieved in the understanding and classification of these diseases.Cardiac involvement in neuromuscular diseases @DISEASE$ conduction disorders, @PHENOTYPICFEATURE$ and dilated cardiomyopathy with its impact on prognosis, is often dissociated from the peripheral myopathy.	false
+4d745438efa7c287ba629cb1855bc3fd37f950b9	Runting-stunting syndrome (@DISEASE$) was observed in four of five experimental groups with significant @PHENOTYPICFEATURE$ between 7 and 28 days postinoculation (DPI).	false
+d1cf3cd46977799e1789f7cbfc53723d7790005d	Ritscher-Schinzel syndrome (@DISEASE$)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+8c77691910835f983c8f9c7df5e1edbd81513e43	UPD7 testing was performed in 40 patients with unexplained @PHENOTYPICFEATURE$, including 21 patients with a diagnosis of @DISEASE$.	false
+355379ad08869896c728d4eed25e3f39d7a9add0	In this report we present an unusual case of runting stunting syndrome (@DISEASE$) with a history of high mortality and @PHENOTYPICFEATURE$ in broiler chickens.	false
+deebedc53d1ff894787a6e5180e58951103871b3	A case report is given of a 37-year-old patient suffering from @DISEASE$ and hypertrophic non-obstructive @PHENOTYPICFEATURE$.	false
+424a1b43f935054ad61179f72a4f83e362ba53fe	Russell-Silver Syndrome (@DISEASE$) is a rare genetic developmental disorder characterized by prenatal and postnatal @PHENOTYPICFEATURE$ and other physical abnormalities.	false
+f2610d35f9bda5e2bd405ab3982c7e23622fafc4	Ritscher-Schinzel syndrome (@DISEASE$) is a clinically heterogeneous disorder characterised by distinctive craniofacial features in addition to cerebellar and @PHENOTYPICFEATURE$.	false
+e02d066ed76153bcc28a11c77f14c97925f41269	@PHENOTYPICFEATURE$, typical facies, limb asymmetry, delayed bony growth and clinodactyly are some of the most constant features of @DISEASE$.	false
+f854629f1f142c92140ccece9db39b00c76f67ef	A 28-year-old male with a @DISEASE$ who had congenital @PHENOTYPICFEATURE$ of sinus venosus defect was described.	false
+57dab13776a3331d9d9d20bce7e584db233d7a2a	Avian rotaviruses (AvRVs) represent a diverse group of intestinal viruses, which are suspected as the cause of several diseases in poultry with symptoms of diarrhoea, @PHENOTYPICFEATURE$ or runting and stunting syndrome (@DISEASE$).	false
+58959b386b6bc418f8a95c4a4895b0d10e576ee3	Of 29 patients with the @DISEASE$, 26 had a somatic activating @PHENOTYPICFEATURE$ (c.49G?A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis.	false
+ee8104a17eddd018e051b31f350d298b05a624e3	This case confirms that @DISEASE$ is a cause of neonatal @PHENOTYPICFEATURE$.	false
+472e8194f0c96b33db37cf09ecff41c7b9ffc8b5	Brown-black, pigment granules, found only in the @PHENOTYPICFEATURE$ cells, were histochemically and ultrastructurally identical to the hepatocellular pigment found in @DISEASE$.	false
+2f223e4d25286e155ba854c8e6724759303b5e00	The expression of the canalicular multispecific organic anion transporter (cMOAT) was decreased in the @PHENOTYPICFEATURE$ but normal in the non-tumoral liver ruling out the diagnosis of @DISEASE$.	false
+583f58c3973d7619a69e465262ccd22729969059	Abnormal function of these transporters results in diseases like Wilson's disease, progressive familial @PHENOTYPICFEATURE$ syndromes, @DISEASE$ and cystic fibrosis.	false
+1f5f8231f89b281281ef71d3a1be959e84bbd218	Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's disease, drug-resistant @PHENOTYPICFEATURE$, @DISEASE$, Byler's disease, progressive familiar intrahepatic cholestasis, X-linked sideroblastic anemia and ataxia, persistent hyperinsulimenic hypoglycemia of infancy, and others.	false
+9558c0a988cb8e9d8b5d971c19e3d29de924afbe	We report a case of @DISEASE$ presenting with neonatal @PHENOTYPICFEATURE$.	false
+520e092ea3ccb74ce2ff6f4e42b4fb05bb3d6405	@DISEASE$ presenting with neonatal @PHENOTYPICFEATURE$.	false
+14e413eb1be093ed4bba51af13f420f54b42a0ff	Some of these lesions encountered which served as feast to a pathologist are tumour to @PHENOTYPICFEATURE$ metastasis, a case with coexistent triple lesions, @DISEASE$, von Meyenburg complex, Multilocular Cystic Renal Cell Carcinoma (MCRCC), Autosomal Dominant Polycystic Kidney Disease (ADPKD), liver carcinod and an undiagnosed vaso-occlusive sickle cell crisis.	false
+3f4353066a908436c37c13826a5bede78dad401b	Some of these lesions encountered which served as feast to a pathologist are @PHENOTYPICFEATURE$ to tumour metastasis, a case with coexistent triple lesions, @DISEASE$, von Meyenburg complex, Multilocular Cystic Renal Cell Carcinoma (MCRCC), Autosomal Dominant Polycystic Kidney Disease (ADPKD), liver carcinod and an undiagnosed vaso-occlusive sickle cell crisis.	false
+e54e811b4a1b4c301653af198c3eaecac023ea18	The authors suggest that rotavirus infection should be considered in the differential diagnosis of a child with @PHENOTYPICFEATURE$ or @DISEASE$, particularly if associated with acute diarrhea.	false
+3e70e93043284778b17a79cde6942f8fdac2ae28	Acute post-infectious @PHENOTYPICFEATURE$ due to co-infection of human herpesvirus-6 and adenovirus mimicking @DISEASE$.	false
+65ee295e8885cb5bd19a7726ead74224e23f64ff	We report a 44-year-old man who presented with recurrent unexplained @PHENOTYPICFEATURE$ and @DISEASE$ despite extensive neurological and metabolic investigations.	false
+7d9723c7ef3fa7be8657ced8437cb7fa7981f599	Neuromuscular manifestations occurred in 16 patients (19%) and included @PHENOTYPICFEATURE$, apnea, opisthotonos, and @DISEASE$.	false
+82ff06bfe48b0a6a805668577ceaa6360706f9a5	Scleromyxoedema: a cause for unexplained @PHENOTYPICFEATURE$ and @DISEASE$.	false
+93e3dbe2c3a34dd7d010f66273afae01de81e92a	Influenza infection is also associated with @DISEASE$, myocarditis, acute renal failure, @PHENOTYPICFEATURE$, and hemolytic anemia.	false
+f67d855818088ba045bee84d1ee8e2d8f40c2ee4	The clinical presentations were heterogeneous: two patients had severe disseminated toxoplasmosis, of which one presented with chorioretinitis associated with @DISEASE$ and the other with febrile pneumopathy; one patient presented with post-infectious acute @PHENOTYPICFEATURE$ and the final case had general symptoms and skin manifestations.	false
+6a97404f9f9ddefbea7b3d2bf7f89db7cb247d0b	Other acute manifestations included pericarditis, pleural effusions, skin ulceration, @PHENOTYPICFEATURE$, @DISEASE$ and peripheral neuropathy.	false
+ad7ae164721bfcb5a76019f09bfac4babdc7d35d	Emphasis was placed on the analysis of patients with progressive muscular dystrophies, @DISEASE$, @PHENOTYPICFEATURE$ dystrophica and other muscle diseases.	false
+aaa62300a75bea8833a14a790b4a5b0872e733c9	Sixteen patients (48%) had brain-stem infarcts; 11 had other known causes, including three with meningitis, two with hysteria, and one each with ocular myositis, pseudotumor cerebri, both ocular @DISEASE$ and pseudotumor cerebri, Guillain-Barr? syndrome, hyperosmolality, and hypoxic @PHENOTYPICFEATURE$.	false
+3a004678a57255c35c1698e820edc04c8f890e68	This operation was effective in all patients with transient disorders of cerebral circulation: headache, nausea, @PHENOTYPICFEATURE$, syncopal conditions and @DISEASE$ disorders practically disappeared.	false
+c1521966397ebd9cac3570c83e6b0f04aa26137b	Despite the generalized hyperpigmentation that is usually observed in @DISEASE$, seborrheic keratosis may present rarely as @PHENOTYPICFEATURE$ lesions in individuals affected by this disease.	false
+0cdef9457ee4922eece8c0cea79f9ab841ac4771	We present a case of long-standing @DISEASE$ associated with @PHENOTYPICFEATURE$ plaques, which were found to be seborrheic keratoses on histologic examination.	false
+a3de3e1e62b4ba4c0a8d1fe247aaf125587b131b	PubMed was used to search the following terms: @DISEASE$, hyperpigmentation, @PHENOTYPICFEATURE$, keratosis, melanin, seborrheic, siderosis.	false
+79989cd48212e638fff87fbf2c40a0f0acb7fb12	We quantified the spinophilin-immunoreactive (ir) dendritic spine density and the intensity of spinophilin immunofluorescence, the latter as a measure of relative protein levels of spinophilin, in PreC lamina III from 33 subjects with clinical diagnoses of no cognitive impairment (NCI), mild @PHENOTYPICFEATURE$ (MCI), mild-moderate AD (mAD), or severe AD (@DISEASE$).	false
+ddcb861bf8e585aeddbc7b27408c71790b5618b0	Our data set consisted of 21 healthy controls, 18 patients with mild @PHENOTYPICFEATURE$ (MCI), 17 patients with mild AD (mAD), and 18 patients with severe AD (@DISEASE$).	false
+7ab5ed60874b27d922c6d4fdb87ff87d6abaaaa6	We compared the amyloid deposition pattern in serial brain 18F-AV-45 PET scan among the FAD, familial mild @PHENOTYPICFEATURE$ (FMCI), and sMCI and @DISEASE$ patients.	false
+9e01485f740472e47be5e7a264a7b8756054f440	We have previously reported alternative processing of APP and Alc? in the CSF of some patients with sporadic mild @PHENOTYPICFEATURE$ (MCI) and AD (@DISEASE$).	false
+211c8084fe61a9e6268623800eac27fd25d15551	Increased serum insulin levels and reduced peripheral insulin activities seen in insulin resistance syndrome are associated with age-dependent @PHENOTYPICFEATURE$ and Sporadic Alzheimer's Disease (@DISEASE$), suggesting a disturbance in the insulin signalling system in the brain and possibly being one of the causes of dementia.	false
+8901c72321d8021f044fcc5f5e2760f6a2a7efa0	Sporadic Alzheimer's disease (@DISEASE$), an age-associated dementia, is described as neuronal loss and marked @PHENOTYPICFEATURE$.	false
+b4b04275687bee7a0b08fa8090a5660311729114	We used semi-quantitative western blotting and immunohistochemistry to evaluate HDAC and sirtuin (SIRT) levels in individuals that died with a premortem clinical diagnosis of no cognitive impairment (NCI), mild @PHENOTYPICFEATURE$ (MCI), mild/moderate AD (mAD) or severe AD (@DISEASE$).	false
+ebb61a23236f13b340ddd30f6908ba9d74f9164e	Western blotting was used to determine levels of TREM2 (?25?kDa) and Iba1 in the frontal cortex and TREM2 in the hippocampus from people who died with an ante-mortem clinical diagnosis of non- and mild-@PHENOTYPICFEATURE$, mild/moderate AD, and severe AD (@DISEASE$).	false
+93ea709a22b961a0cd1d8fc8611905395ac14a0f	@DISEASE$ @PHENOTYPICFEATURE$ and myasthenia.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+918915a5753dd0276f7d748daa00a8c283e1d078	[@PHENOTYPICFEATURE$ of congenital @DISEASE$ and their diagnostic value].	false
+17e79bc2b5772dfaf621ae85affe0bdabf61ff53	These disorders are: @DISEASE$ (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+e676973f300009ff386d19900bed50290ba486e2	Breast hypoplasia and @PHENOTYPICFEATURE$ in the @DISEASE$: expansion of the phenotype?	false
+db725aad93609fba5c1a20f40d9b511b0ecbd0f4	Mutations in SOX10 result in @DISEASE$. The overlapping epitopes AWISKPPGV and SAWISKPPGV, designated SOX10: 332-340 and SOX10: 331-340, respectively, were recognized by @PHENOTYPICFEATURE$-infiltrating lymphocyte clone M37 in an HLA-A2-restricted fashion.	false
+7a2362f073bfa146d9b6ae6a632dde0df5a62163	This syndrome is characterized by the appearance of myalgia, myositis, muscle weakness, arthralgia, arthritis, chronic fatigue, sleep disturbances, cognitive impairment and @PHENOTYPICFEATURE$, and the possible emergence of a demyelinating @DISEASE$ caused by systemic exposure after vaccines and adjuvants.	false
+0f66fb88b14cc0f896ff9d2cae277921f4565b31	This syndrome is characterized by the appearance of myalgia, myositis, muscle weakness, arthralgia, arthritis, chronic fatigue, @PHENOTYPICFEATURE$, cognitive impairment and memory loss, and the possible emergence of a demyelinating @DISEASE$ caused by systemic exposure after vaccines and adjuvants.	false
+59e652c81af8bf9aad24caaf5259459bea90ef76	In the subgroup of patients with high titres, this epilepsy is often pharmacoresistant and associated with @PHENOTYPICFEATURE$, depression and other @DISEASE$.	false
+52812274afd75c1ba3e4820a91ec847159ea4d77	Leukopenia is often associated with systemic lupus @PHENOTYPICFEATURE$ (SLE) and other @DISEASE$.	false
+21c0af3cdcc98374b6b28737a0fd341afd78178e	Scleroderma encompasses an heterogeneous group of @DISEASE$ characterized by an hidebound @PHENOTYPICFEATURE$ involvement.	false
+8a9d9ed383c328e982f6b3956e0e544b3aea5c27	To our knowledge, the coexistence of @PHENOTYPICFEATURE$ and thyroid @DISEASE$ has not been reported.	false
+06719e260b57fd0a1314365606dd4220a20859b9	Rasmussen's encephalitis, originally thought to be a chronic form of viral @PHENOTYPICFEATURE$, is now thought to be an @DISEASE$ of the brain and is more properly termed Rasmussen's syndrome.	false
+c23276228efe5482dee8731c1bb47ea2245793d0	Vitiligo is an @DISEASE$ that results in the destruction of melanocytes and subsequent skin depigmentation and @PHENOTYPICFEATURE$.	false
+7a2362f073bfa146d9b6ae6a632dde0df5a62163	This syndrome is characterized by the appearance of myalgia, myositis, muscle weakness, arthralgia, arthritis, chronic fatigue, sleep disturbances, cognitive impairment and @PHENOTYPICFEATURE$, and the possible emergence of a demyelinating @DISEASE$ caused by systemic exposure after vaccines and adjuvants.	false
+0f66fb88b14cc0f896ff9d2cae277921f4565b31	This syndrome is characterized by the appearance of myalgia, myositis, muscle weakness, arthralgia, arthritis, chronic fatigue, @PHENOTYPICFEATURE$, cognitive impairment and memory loss, and the possible emergence of a demyelinating @DISEASE$ caused by systemic exposure after vaccines and adjuvants.	false
+86fa9fce17926176d138974e2453eaa1bdddae5d	@PHENOTYPICFEATURE$ skin is predisposed to @DISEASE$.	false
+6851ca7e31e25e0b995a6b37e3ad72bbe9724223	Osteopontin levels are increased in patients with such conditions as end-stage renal disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7fafb38264c69313e9ec4b125002da22a216102e	Furthermore, acute @PHENOTYPICFEATURE$ caused by isolated intraspinal @DISEASE$ without concomitant cerebral involvement is extremely rare.	false
+487217ee4908535f5b0b52b960fa10daf1b3d10d	Acute @PHENOTYPICFEATURE$ caused by intraspinal @DISEASE$: case report.	false
+2a2d529cd48920f252c6df37cd2bda1b3016db0e	[Clinical and evolutive aspects of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+27f727127e772112e764b4d977482c065402c162	@PHENOTYPICFEATURE$ and @DISEASE$: cases illustrative of three distinct mechanisms.	false
+94f665178abff55dcb2c2352dbdd6bd93746bfe2	Endoscopic management of @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+ecc87fe65fa5bda0d31ad911f46c7aa271a6da43	Ventricular @DISEASE$ often causes obstructive @PHENOTYPICFEATURE$.	false
+ba5084b6b0a7bd8cb5c6026bcd4f78474fc7b14d	Fourth ventricular @DISEASE$ (FVNCC) usually presents with obstructive @PHENOTYPICFEATURE$.	false
+9868aaa5dd6495e1aa8129c63346cfd8f81efb87	To develop an experimental model of @DISEASE$-induced @PHENOTYPICFEATURE$	false
+07a26444be10b089fa3577a8cc24ae09113029e8	Double compartment @PHENOTYPICFEATURE$ in a patient with @DISEASE$ meningitis.	false
+05911a52a967925ec970b5a4409cc4356a28d6c7	Development of an experimental model of @DISEASE$-induced @PHENOTYPICFEATURE$.	false
+6eeb7c7e563f45b6a238cb691b5d997931c91e30	Headache may be intrinsically related to sleep (migraine with and without aura, cluster headache, hypnic headache, and @DISEASE$), may cause sleep disturbance (chronic migraine, chronic tension-type headache, and medication overuse headache) or a manifestation of a sleep disorder like @PHENOTYPICFEATURE$.	false
+ec93c013d4d2692eb7796f11b2c23021d1cf4f27	They have been implicated in diverse potential therapeutic applications such as sleep-wake disorders, @DISEASE$ hyperactivity disorder, epilepsy, cognitive impairment and @PHENOTYPICFEATURE$.	false
+889d69566316ca033e1726a7def78f9262dc85b3	25-Hydroxvitamin D concentrations are not lower in children with bronchial asthma, atopic dermatitis, @PHENOTYPICFEATURE$, or @DISEASE$/hyperactivity disorder than in healthy children.	false
+660f3c4db8a5f339231923684726bb3e73762e55	sleep-wake disorders, @DISEASE$ hyperactivity disorder, epilepsy, cognitive impairment, schizophrenia, @PHENOTYPICFEATURE$ and neuropathic pain.	false
+87abe51da98263d17f78776b0d8b66beedd2a3f1	Childhood @PHENOTYPICFEATURE$ is associated with increased risk of behavioral/psychological disorders including depression, anxiety, poor learning, and @DISEASE$ disorder.	false
+1583270e03e806249c2e18d13cae0fcc40c7719a	Osteopoikilosis, @DISEASE$ (BOS) and melorheostosis are disorders characterized by @PHENOTYPICFEATURE$.	false
+d49d415ca63729c4dfd5a5bc7079b86bb82f46c9	Differences in cerebellar structure have been identified in autism spectrum disorder (@DISEASE$), attention deficit hyperactivity disorder (ADHD), and developmental @PHENOTYPICFEATURE$.	false
+0ad1dc24c703d6ae590d795fb1154612b7bfbf3d	We present illustrative images of a case of @PHENOTYPICFEATURE$ after device closure of @DISEASE$ in a 53 year old adult.	false
+137cf7e1dc76e0bb5c1636b6e1bf2fc0678a5109	Specifically, using retrospective clinical record review, we report the prevalence of hypotonia, motor @PHENOTYPICFEATURE$, reduced ankle mobility, history of gross motor delay, and toe-walking, as well as the improvement of these symptoms with age, in a cohort of 154 children with @DISEASE$.	false
+e8d7057f5f99ffd11293fad96ddac4e3bdafb28b	There is a high prevalence rate of abnormal brain structure in preschool and school-aged children with @DISEASE$, with major types of unilateral or bilateral @PHENOTYPICFEATURE$ and unilateral or bilateral deep frontotemporal sulci.	false
+7dcfb441e0660e221a4384c043431f4d0372c18f	Here we investigated face processing in an adult, patient PK, diagnosed with both high functioning autism spectrum disorder (@DISEASE$) and developmental @PHENOTYPICFEATURE$ (DP).	false
+09b0fa57f08d7d76240261c9620035b8e8d56376	Partial seizures tended to be more common and @PHENOTYPICFEATURE$ less common in the @DISEASE$ group compared with the non-ASD group.	false
+483e409fa141eef02b80e266a8241f148d948572	Therefore, rather than myocardial impairment, right ventricular volume load disturbing left @PHENOTYPICFEATURE$ would be the more likely cause of diminished left ventricular function before surgery in the @DISEASE$ and MS group.	false
+80f5cc8f93c523a545a8351367edc866b75e0c85	Common NDDs include autism spectrum disorder (@DISEASE$), intellectual disability, communication/@PHENOTYPICFEATURE$, motor/tic disorders and attention deficit hyperactivity disorder.	false
+4b5e80e2282a18a6316bf22a6e38b5fd8c214444	Transient @DISEASE$ occlusion and, if required, pharmacologic preconditioning prior to percutaneous closure may prevent periprocedural @PHENOTYPICFEATURE$ in high-risk patients.	false
+05e558882dfbde10af31d1e24b53693333b0f41b	A patient is presented with @DISEASE$ and right ventricular thrombus who developed extensive bilateral @PHENOTYPICFEATURE$ with an apparently prolonged survival.	false
+43c96498617e200d337d70ad31e5090e2135716d	In addition to their application in large mutagenic screens, zebrafish has been used to model a variety of diseases such as diabetes, @DISEASE$, @PHENOTYPICFEATURE$ and cancer [32-36].	false
+3e52955b5c8585c8de9b0255ff8fe463b80b7561	Letter: @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5d6bda400208321d4d9ab23c742ba1d361311204	Our aim is to report a case of a 51-year-old female with a?history of adult dominant @DISEASE$ (ADPKD) and sarcoidosis who presented with multiple episodes of @PHENOTYPICFEATURE$.	false
+da522cb247486d580fc98e3b5928000e46e67ea9	Drawing on examples from spinal muscular atrophy, @DISEASE$, @PHENOTYPICFEATURE$ and Alzheimer's disease, we illustrate how data from C.elegans can yield new insights into the function and interactions of human disease genes.	false
+67542a7e6e29daea3b311fa19e97f1621a5d5b6c	Four had transplantation for autoimmune hepatitis; four for non-A, non-B, non-C hepatitis; two for primary sclerosing cholangitis; one for giant cell hepatitis; one for @PHENOTYPICFEATURE$; one for @DISEASE$; and one for obstructive uropathy.	false
+2712523fb3c7a9f3580bbb97536289ffcfd984a0	However, a recent clinical trial showed that @DISEASE$ (PKD) patients had infrequent episodes of @PHENOTYPICFEATURE$ despite receiving combined RAAS inhibitors.	false
+16a4fc4147caae29203e2422d46f197853601afd	Juvenile diabetes and @PHENOTYPICFEATURE$: @DISEASE$.	false
+092b2c5849a32d04468673f65f9bba982d334698	@DISEASE$ is a rare disorder associated with diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing and @PHENOTYPICFEATURE$, and neurodegeneration.	false
+e9acd47f522e3ac31d5dcb3a7417f1d04025af79	Their 2 children are compound heterozygotes and manifest the full @DISEASE$, in addition to @PHENOTYPICFEATURE$.	false
+4c44dbb99af97ad088a672519cbd1f21a7477080	@DISEASE$ should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood @PHENOTYPICFEATURE$.	false
+5f55d4e75c1efcd70dbe4f7c02b2a11b8699dfa0	A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and @PHENOTYPICFEATURE$ was diagnosed with @DISEASE$.	false
+1c8fb9f63554ba37f94578047177d8293cbb6328	Furthermore, its unique mechanism of action and the absence of cross-resistance with taxanes have led to the design of clinical trials in multiple indications: @DISEASE$, lung cancer, prostate cancer? The main adverse events are neutropenia, fatigue and @PHENOTYPICFEATURE$.	false
+5c1d4b2e65a3b0cf742cec0f0902579485041c58	This paper reported @DISEASE$ with @PHENOTYPICFEATURE$ of 2 cases.	false
+0879cd515d0c818d39507d3ec02e98dae540641c	@PHENOTYPICFEATURE$ of variable severity was noted in all cases of IBM and @DISEASE$.	false
+40d690bfb663c15367e45cb5c325ab2d13f01a77	This leads to mitochondrial toxicity that manifests clinically as @DISEASE$, @PHENOTYPICFEATURE$, hyperlactatemia or lactic acidosis and lipoatrophy.	false
+bb7126fed8501b991a4e9bbae3fd8951fbc1eb3c	[@DISEASE$ with @PHENOTYPICFEATURE$].	false
+ef491290c82c2d4b5e7d63c39dab6f2464290aa6	Twenty patients with @DISEASE$ were investigated for the presence of @PHENOTYPICFEATURE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+9cbd47d0acc90c5e85aa036fbd28fe2f02f172fb	@PHENOTYPICFEATURE$ of @DISEASE$.	false
+3c640d004c55e1c479c428abae13d877aeea4412	@PHENOTYPICFEATURE$ has attracted relatively little attention in @DISEASE$.	false
+ef491290c82c2d4b5e7d63c39dab6f2464290aa6	Twenty patients with @DISEASE$ were investigated for the presence of @PHENOTYPICFEATURE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+5d5f558b9733795f0188d6fba0654de58f26c393	We report the successful management of a 4-year-old male child with @DISEASE$, cleft palate, @PHENOTYPICFEATURE$, atrial septal defect, and dextrocardia for tibialis anterior lengthening under subarachnoid block.	false
+9559605f0a9bf3586ffc50cb9b523b9d8342e221	The @DISEASE$ (FHS) consists of craniofacial defects and any two of the following: pre/postnatal growth deficiency, limb defects, major malformations, and @PHENOTYPICFEATURE$.	false
+05fff8568cf35e94c5c20fd1fd75ba71b2a0c38b	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the @DISEASE$: growth retardation, microcephaly, @PHENOTYPICFEATURE$, and a distinct hysmorphic pattern.	false
+e277d1877e3de109c5c559780090b9b4b2972113	Characteristics of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+38823ce3d7810ee60f273574d486d89ceddfc956	Progressive @PHENOTYPICFEATURE$ is a common symptom in individuals with @DISEASE$ (FD).	false
+aeb941f9fceea5a59cf65460688538ab23b82cc8	Neurogenic @PHENOTYPICFEATURE$ with undigested macaroni and megaesophagus in @DISEASE$.	false
+e05f250dc82a392761f90eb099a9ada6a3be6ba9	@DISEASE$ features marked @PHENOTYPICFEATURE$ that progressively worsens over time.	false
+abcca7f7eca1b6790af3aff1573667cc932ce38c	@DISEASE$ (HSAN III) features disturbed proprioception and a marked @PHENOTYPICFEATURE$.	false
+b172b051077f9a85a570435d818a22c6ba4ae110	These results suggest that poor proprioceptive acuity at the knee joint is a major contributor to the @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+3142e94f2ae500af23cdfe54d60a65490ffae952	NEW & NOTEWORTHY We describe the impaired manual motor performance in patients with @DISEASE$ (Riley-Day syndrome), who exhibit congenital insensitivity to pain, poor proprioception, and marked @PHENOTYPICFEATURE$.	false
+5ba3f7673a2577fd4237e712fd969ae1dfddd1b5	NEW & NOTEWORTHY We describe the impaired manual motor performance in patients with hereditary sensory and autonomic neuropathy type III (@DISEASE$), who exhibit congenital insensitivity to pain, poor proprioception, and marked @PHENOTYPICFEATURE$.	false
+c7bc3058586dcef447f5789f3dce34f89013717d	We experienced the anesthetic management of a @DISEASE$ carrier for two palliative operations (left and right unifocalization) and radical repair of @PHENOTYPICFEATURE$.	false
+99cfc8f0801c5d6c301ddbb31b9903ef03d8d25a	An acute myocardial infarction was observed in a 62-year-old patient with @DISEASE$, as well as myxedema, hypertension, @PHENOTYPICFEATURE$, hypercholesterolemia and angina pectoris.	false
+0616dd5deb8a6760f44be8b078531f0c3267143f	@DISEASE$ patients with @PHENOTYPICFEATURE$ develop atherosclerosis to a similar extent as the general male population.	false
+68b8d3842c15ec307f62884864c140802a2f6720	Surgical treatment of intracranial hematoma and @PHENOTYPICFEATURE$ in an infant with @DISEASE$.	false
+983d9147ae6304f82b885be22d3ee4cf2d932b8b	Overweight and @PHENOTYPICFEATURE$ in @DISEASE$ systematic review of the literature.	false
+b74df0d14e8c1d6233546129dd412ad256598e7e	A 70-year-old man with coagulation disorder (@DISEASE$) underwent left PCN because of left hydronephrosis and @PHENOTYPICFEATURE$.	false
+0fe0a4b863b0f30700efa5093d5604873cf2f49a	Answer: An incidental large arachnoid cyst associated with compensated @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+1d808f155fccdf398708b0fa074101ec1a91f438	So far PGD has been carried out for three carrier females at risk of transmitting X-linked adrenoleukodystrophy, X-linked @PHENOTYPICFEATURE$ and @DISEASE$. The latter one is now pregnant.	false
+d52be1dc930cb9d1b98ce671e1d3254845f57c6f	To evaluate atherosclerosis and endothelial function in @DISEASE$ patients with and without @PHENOTYPICFEATURE$ as well as in matched, unaffected controls.	false
+b1d937cf720853d17eda7839943aaf6b29b987e7	[Anesthetic management of a @DISEASE$ carrier for palliative operation and radical repair of a @PHENOTYPICFEATURE$].	false
+283a5f6e15eea84ff27b220e9d7f9df6c2f8a085	Etanercept as other TNF-? inhibitors, particularly infliximab, may be administered off-label to treat other chronic inflammatory immune-mediated diseases such as systemic sclerosis, @DISEASE$, @PHENOTYPICFEATURE$, polymyositis, dermatomyositis and mixed connective tissue disease.	false
+5f7592be37d23a69c569142411ef9fa2841e6fb0	Thalidomide has been used successfully in several other dermatologic disorders, including aphthous stomatitis, @DISEASE$, chronic cutaneous @PHENOTYPICFEATURE$, and graft-versus-host disease, the apparent shared characteristic of which is immune dysregulation.	false
+3003add5d47433effda2200bb98050a34ad035d3	Although other auto-inflammatory disorders such as, Blau syndrome, Muckle-Wells syndrome, and @DISEASE$ have been associated with various forms of uveitis, Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis has never been reported to be associated with any type of @PHENOTYPICFEATURE$.	false
+e348d49a96130ac924e324d15ccf6ce944dddf0c	Lentiginosis within plaques of @PHENOTYPICFEATURE$ @DISEASE$: another example of twin spotting?	false
+cfbf8340c109bacead7db66c3edccc594f2bab54	Sphincter of Oddi dysfunction (@DISEASE$) is associated with @PHENOTYPICFEATURE$ and is treated by sphincterotomy.	false
+90b1bfffb8e401fdb001eabd54d7fd3333ed54e4	Glutathione peroxidase (GSH-Px), superoxide dismutase (@DISEASE$), and glutathione S-transferase activities were measured in lung tissue obtained from 7 patients receiving resectional surgery because of localized @PHENOTYPICFEATURE$.	false
+4fc34dc9e883d4e1f81520466b9d20605ce0d444	We report a girl with @DISEASE$ in association with subglottic stenosis, sagittal craniosynostosis, osteoporosis and @PHENOTYPICFEATURE$.	false
+8e9dd4691e2c18b4aff815317ed82d00d7f99d69	15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal @DISEASE$ loss, hepatopathy, progressive @PHENOTYPICFEATURE$, and sudden death.	false
+fd2e55845f456b2433da14baede1760df06c6419	Rats administered with D-gal/AlCl? exhibited @PHENOTYPICFEATURE$, decreased activities of @DISEASE$, and marked increase in AChE and MDA levels.	false
+af4df8e88895e5d8dbbc8ecbc4062c71441bc224	Lp-PLA2 and @DISEASE$ are independently associated with @PHENOTYPICFEATURE$ and WMH lesion, and may be useful for the rapid evaluation of cognitive impairment in CSVD.	false
+f758a889d4727a0d6ccece1ea773d941debfda22	Lp-PLA2 and @DISEASE$ with mild or severe @PHENOTYPICFEATURE$ were lower than those with normal congnition.	false
+83d13703dd9f1d50647f8fe267ae4bbc6b7bf8a6	Using a retrospective design, we investigated whether circulating Lp-PLA2 and @DISEASE$ in cerebral small vessel disease (CSVD) patients were associated with @PHENOTYPICFEATURE$.	false
+f735fa7d27a42f44c558089163ab1138e8eaf2a3	Segmental odontomaxillary dysplasia (@DISEASE$) is a characteristic developmental abnormality that demonstrates posterior maxillary enlargement, @PHENOTYPICFEATURE$, altered bone trabeculation, and possible cutaneous findings.	false
+b42d57e30b69e8a95408476ba72e20886dfa223a	Furthermore, APAE enhanced the decrease in the levels and expression of hippocampal antioxidant enzymes (@DISEASE$ and CAT) following LPS-induced neuroinflammation and @PHENOTYPICFEATURE$.	false
+0078930d3815862b061ff2b1f596bdd45b92627e	MicroRNAs 221/222 and genistein-mediated regulation of @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene in prostate cancer.	false
+aca14ebff586acf8aa465b588f3c4f9060e22821	Reexpression of @DISEASE$ inhibits @PHENOTYPICFEATURE$ growth and angiogenesis and impairs the mTOR/VEGF pathway in hepatocellular carcinoma.	false
+ec6a989846eb7d096fe1d8e9109747d1d5373db3	Taken together, our results suggest that the activity of multiple HDACs contributes to the repression of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene in breast cancer cells.	false
+e32e9385f3af5d73c5bef39163050823d6e94aa7	EZH2-induced H3K27me3 is associated with epigenetic repression of the @DISEASE$ @PHENOTYPICFEATURE$-suppressor gene in ovarian cancer.	false
+d290e242f9ef8432d3287e39bd475f8aab55d526	Previously, we reported that ADP-ribose-acceptor hydrolase (@DISEASE$)-1 deficiency in mice was associated with @PHENOTYPICFEATURE$ development.	false
+b74ac9337117a3ff8d48cc3b6f3cadd531b9738d	EZH2-?induced H3K27me3 is associated with epigenetic repression of the @DISEASE$ @PHENOTYPICFEATURE$-suppressor gene in EOC.	false
+eda62dde94b5759cb56cb1a0d367cc4a80eb51b1	STAT3 acetylation-induced promoter methylation is associated with downregulation of the @DISEASE$ @PHENOTYPICFEATURE$-suppressor gene in ovarian cancer.	false
+f755b272754c2fd91d521a8e64bbb6bb44d12022	The human @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene inhibits lactation and growth in transgenic mice.	false
+993af2926b5232e0eba65deff9d5549a5f29e6d5	Over-expression of @DISEASE$ decreases @PHENOTYPICFEATURE$ growth, migration, and invasion in human glioma.	false
+6da1470f7703ac2a4110376049d34897cc490d6a	Re-expression of @DISEASE$ inhibits ovarian cancer growth, initiates autophagy and induces @PHENOTYPICFEATURE$ dormancy.	false
+c2bd93e91ded14492646e052221c5e8b650ea537	Untreated pediatric patients with @DISEASE$ usually have myocardial infarctions, @PHENOTYPICFEATURE$, or death by the teenage years.	false
+e90d978966ecb9182a2c9871e392d2bf46ceb6ef	It has been found that people suffering from diabetes, @PHENOTYPICFEATURE$, @DISEASE$, moderate hypercholesterolemia, and smokers have higher levels of isoprostanes in urine.	false
+3049a4ef3b0ecd86d5f4832c8fd39babe3ee5143	Early severe coronary heart disease and ischemic @PHENOTYPICFEATURE$ in @DISEASE$: A case report.	false
+3f9101272ddce9cb73f4421a811c022c93087905	The spectrum of @PHENOTYPICFEATURE$ associated with @DISEASE$ and AIDS.	false
+195f0f6c3c5fd8f62a7e7e82344c3119ad824cf9	@DISEASE$ (ARCI) comprises a group of severe disorders of keratinization, characterized by variable @PHENOTYPICFEATURE$ and skin scaling.	false
+96945579ddfcd90ee883cd9249eb5e6761fa001c	Four groups of patients were studied: AIDS with opportunistic infections, AIDS with Kaposi's sarcoma, AIDS/@DISEASE$ patients with @PHENOTYPICFEATURE$ and a patient with AIDS-related immune thrombocytopenia.	false
+61eb73ec75834ef043141aa6fc07bf4a43e5e031	Partial tumor responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with @DISEASE$ and @PHENOTYPICFEATURE$ treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with ARC related peripheral neuropathy, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+a20dc527c1a2c83ae8b32acf4092bd4e22e2f8c0	Partial tumor responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with @DISEASE$ and peripheral neuropathy treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with ARC related @PHENOTYPICFEATURE$, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+427d5f83c13791ecba5f9ad4e664f1f61277735b	Partial tumor responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with ARC and peripheral neuropathy treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with @DISEASE$ related @PHENOTYPICFEATURE$, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+8d473ac2570c85079282b22ab825fbcf83e2b4ea	Partial tumor responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with ARC and @PHENOTYPICFEATURE$ treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with @DISEASE$ related peripheral neuropathy, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+f1fe4c5837b5c1291cdcdc6c503a813c7b646211	Four patients with AIDS and Kaposi's sarcoma without opportunistic infections were treated with staph protein-A immunoadsorption and two patients with @DISEASE$ and @PHENOTYPICFEATURE$ were treated with lymphoplasmapheresis.	false
+88cdc8e4917e24ff0d0a485ca1f988da4104a36c	AIDS (9.8%), diabetes (9.8%), and @PHENOTYPICFEATURE$ C (4.6%).Two patients had @DISEASE$; 1 had Marfan syndrome.	false
+1d562fd0b065e7353adf1136768f383a76dda835	@DISEASE$ is an autoimmune disease that is associated with muscle and @PHENOTYPICFEATURE$.	false
+4e2e21fb16e70a875bdb359b4d0e537e2763a3e8	Atypical central retinal artery occlusion: an uncommon cause of retinopathy and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0ae21b760a6a06813fdf9f3f4eeef9553a78b06a	Irreversible @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6a811a7b429dc712a0f0a49fcfae700408c70b3e	Anti-Jo-1 antibodies occur in syndromes that may include muscle weakness and @PHENOTYPICFEATURE$, Raynaud's phenomenon, interstitial lung disease, arthritis, and a skin rash different from that seen in @DISEASE$.	false
+eca76d41af0a026dad113d12c63287382afde65d	AD is similar to @DISEASE$ in many ways, in that both are associated with defective insulin release and/or signalling, impaired glucose uptake, amyloidosis, increased oxidative stress, stimulation of the apoptotic pathway, angiopathy, abnormal lipid peroxidation, ageing (in type 2 DM), @PHENOTYPICFEATURE$, increased formation of advanced glycation end products and tau phosphorylation, impaired lipid metabolism and mitochondrial pathology.	false
+0fb92cec4f0ad7f951dbe69a13cd2d061aed22f9	Whereas ectopic expression of wild-type FHL1 (FHL1 wt) suppressed both skeletal and heart muscle myopathy in fhl1a-morphants zebrafish, overexpression of the @DISEASE$-opathy associated human mutations FHL1-H123Y, FHL1-C132F or FHL1-C224W did not rescue skeletal and heart muscle @PHENOTYPICFEATURE$ in fhl1a-morphants.	false
+5e194be33660089986b975f61b0f2b51e8d0d022	A 10-year-old female patient with Crouzon syndrome and @DISEASE$ treated with trabeculectomy and ocular @PHENOTYPICFEATURE$ medications was examined.	false
+5624252c029b11c7382935a94df665894fe40277	Histopathology did not reveal viable @PHENOTYPICFEATURE$ cells in the phthisical eyes; in both @DISEASE$ eyes the tumor was active, infiltrating the choroid and optic nerve.	false
+4d0e652e78307f66ad16990720db12e22a9262ff	Histopathology did not reveal viable tumor cells in the phthisical eyes; in both @DISEASE$ eyes the @PHENOTYPICFEATURE$ was active, infiltrating the choroid and optic nerve.	false
+d69969ff8d2f222c9484b8517ad69ba59b67abc4	This is a recently-named entity comprising @DISEASE$, hypertelorism, congenital heart defects and kyphoscoliosis, @PHENOTYPICFEATURE$, and developmental delay.	false
+03988efde7d8b15d98c1822c233a3ecc5a59c97f	@DISEASE$, limb deformities, @PHENOTYPICFEATURE$, and facial anomalies: report of another family.	false
+92b217a53393d899e08b6bbcaa716226a210392c	Port-wine stains, @DISEASE$, cloudy corneas, @PHENOTYPICFEATURE$ and harelip also occur frequently.	false
+4afea48f6a01f049dc9400d33967d74ecd39257f	A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4f018c4d701de4f438795a9a246ca73ec8d0c9e0	Specimens were grouped according to the reason for enucleation into the following categories: atrophic/phthisis bulbi, @DISEASE$, infection, longstanding retinal detachment, trauma, @PHENOTYPICFEATURE$, uveitis, and other.	false
+88832938f485e31e1f9da7455187d453e780e4bc	A significnat ocular @PHENOTYPICFEATURE$ action has been observed in the treatment of chronic open-angle, hemorrhagic and @DISEASE$.	false
+af105af17086c638e0df9aececb9860132425b8a	We have observed @DISEASE$ in a patient with a @PHENOTYPICFEATURE$ closely resembling Kniest syndrome.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+51a946a70e7e1c079eb6acbf599a908325c8196e	Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular @PHENOTYPICFEATURE$, @DISEASE$, telangiectasia, elevated serum ?-fetoprotein concentration, radiosensitivity and cancer predisposition.	false
+60c12471bf4bd394398f7db10aea5ffd552e8805	Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including @PHENOTYPICFEATURE$, hypoplastic hair, @DISEASE$, and increased risk of malignancies.	false
+b1105067c507168c39f7bc79285c145f7608bde3	Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular @PHENOTYPICFEATURE$, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and @DISEASE$.	false
+cdd4401c363d7a500eca910ca1b493cf8678fca9	Antibody to the ligand for CD40 (gp39) inhibits murine AIDS-associated splenomegaly, @PHENOTYPICFEATURE$, and @DISEASE$ in disease-susceptible C57BL/6 mice.	false
+aba3b233e91371529e20ff71e285dc6852e486f4	AT is an autosomal recessive disorder of childhood onset characterized by progressive cerebellar ataxia, ocular @PHENOTYPICFEATURE$, telangiectasia, @DISEASE$, radiation sensitivity, chromosomal instability, and predisposition to cancer.	false
+e102e3077151a5c29891f45e0edda4bb5041a048	We studied a patient with albinism, neutropenia, @DISEASE$, neurodevelopmental delay, @PHENOTYPICFEATURE$, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency.	false
+eda694df08b34a8e7b1f12d1e905c97871af4037	We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, @PHENOTYPICFEATURE$, and impaired hearing but with no mutation in genes so far associated with albinism and @DISEASE$.	false
+640818178b6d5b60eeae970a33215a5fa25f3e80	Some of them may be an @PHENOTYPICFEATURE$, and/or an increase in the mucous membrane permeability, and/or a subtle @DISEASE$.	false
+451595b070df301317cf0a992c2813da002df249	The onset of progressive cerebellar ataxia in early childhood is considered a key feature of ataxia-telangiectasia (A-T), accompanied by ocular @PHENOTYPICFEATURE$, telangiectasias, @DISEASE$, cancer susceptibility and hypersensitivity to ionizing radiation.	false
+324afaff946f50dd3e2480c61a82362355b09df3	It is characterized by @PHENOTYPICFEATURE$, fine sparse hair, ligamentous laxity, hematological abnormalities with anemia, a predisposition to malignant tumors, and recurrent infections usually due to cellular and/or humoral @DISEASE$.	false
+24fc3de9369b90ccb0fe2815058a316e8483b92b	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, @DISEASE$, and intrauterine growth retardation.	false
+ff6f5aeeb3226ce60031402aee6d5c6e0d864119	A case of @DISEASE$ in a 68-year-old man with @PHENOTYPICFEATURE$ and alcoholic liver disease is presented.	false
+59eeccc8e0efc2ef021a77d972f3f8c115a0479a	The two mutations that confer partial enzyme activity in vitro were found in the 2 patents with mild @PHENOTYPICFEATURE$, suggesting that such mutations contribute to the phenotypic variation observed in patients with @DISEASE$.	false
+972811c4af847771fde7368756dd76c77e14e1dd	Twenty-seven patients underwent unilateral retroperitoneal nephrectomy; 1 child with Denis @DISEASE$ underwent transperitoneal bilateral nephrectomy; 2 children underwent @PHENOTYPICFEATURE$ unroofing; and 1 child with lymphoma underwent retroperitoneal laparoscopic renal biopsy.	false
+4d137c706e5f58b3dfc58b4ee21256bfce064c1b	Indications for surgery were: renal function <9% in cases of unilateral nephrectomy; the prevention of renal neoplastic changes in the patient with @DISEASE$; symptomatic large @PHENOTYPICFEATURE$; and suspected lymphoma not diagnosed with a previous percutaneous biopsy.	false
+c8eaf6d1f69e12d5895481202e35834846f4ae8e	@DISEASE$ with @PHENOTYPICFEATURE$, caused by an interstitial deletion of the long arm of chromosome 5 encompassing the APC (adenomatous polyposis coli) tumor suppressor locus.	false
+e7071c81e59e377f7b6f18a26272a5870f371e74	Familial adenomatous polyposis with @PHENOTYPICFEATURE$, caused by an interstitial deletion of the long arm of chromosome 5 encompassing the APC (@DISEASE$) tumor suppressor locus.	false
+57abb6392e8338500c56ab6bdddf55cfb9fb02b4	The presenting features of MF are asymptomatic abdominal mass, abdominal discomfort or pain, bowel or @PHENOTYPICFEATURE$, intestinal perforation, fistula, functional impairment of ileoanal anastomosis following colectomy in @DISEASE$ cases.	false
+a5dfd259fb6ebd9bacd1ac0cdef3b7c91d294882	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with @DISEASE$ premalignant lesions, LS carcinoma, and @PHENOTYPICFEATURE$ colorectal cancers from TCGA.	false
+79366606d4e95e627b5ba9672bbd8b66cabd26ed	However, faecal incontinence, @DISEASE$, Hirschsprung's disease, @PHENOTYPICFEATURE$ and Ehlers-Danlos syndrome may also require a stoma to be formed.	false
+ba57c824b144a2b841c1135b831cd1376a2f5f17	@DISEASE$ in a patient with unexplained @PHENOTYPICFEATURE$.	false
+3324aeae438dc289550a5ae647815ce2b3e734a8	@DISEASE$ and @PHENOTYPICFEATURE$ caused by a de novo chromosomal deletion at 5q15-q22: report of a case.	false
+34d003224150006f1883419ad5c81dfa4e6974b7	We report a case of @DISEASE$ and @PHENOTYPICFEATURE$ caused by a chromosomal deletion at 5q15-q22.	false
+acb4098db2ebba0247fdec1ed088896ab5f45efa	Mutation of the @DISEASE$ (APC gene), an early event in the adenoma-carcinoma sequence, is present in 70-80% of @PHENOTYPICFEATURE$ human colorectal adenomas and carcinomas.	false
+386c45bf19dcd395739aa4d1b495c2842980e739	Collectively, our study explores a new mechanism that explains @PHENOTYPICFEATURE$ in APC(min) mice and provides insights into studying the metabolic disorders of @DISEASE$ patients.	false
+8944a1a0d299fabd5a05c855c2d9dec4b587d5fa	This report aims to present two patients with @DISEASE$: The first one is a patient who presented with osteomas and @PHENOTYPICFEATURE$, being diagnosed with Gardner Syndrome after the colonoscopy.	false
+6033f941b4c6f99713754f5353b860a0a3f1a739	@DISEASE$, @PHENOTYPICFEATURE$, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.	false
+4903a8b7b2dc7dc7c496a62a41951de1ea2fb0cf	We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with @PHENOTYPICFEATURE$, @DISEASE$, severe mental motor retardation and hypotonia.	false
+1a44a7f4cd480d9ad6d480cc403bcde2c806a0bd	To present the case of a child with @PHENOTYPICFEATURE$, PCH and @DISEASE$, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X.	false
+4e3722265254be3c805269f204096c9a893a20be	The patient presented with @DISEASE$, severe psychomotor delay, failure to thrive, @PHENOTYPICFEATURE$, atypical ocular movements, and pyramidal signs.	false
+271086adb03518598cce71a1bcfd15a696cc5e00	The patient presented with @DISEASE$, severe psychomotor delay, @PHENOTYPICFEATURE$, microcephaly, atypical ocular movements, and pyramidal signs.	false
+1bca93d4144a940eca7a10dafd7320b4ff9d0cd9	We present a boy, admitted at 4 months, with facial dysmorphism, @PHENOTYPICFEATURE$, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (@DISEASE$), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space.	false
+85bb3c097e7bf6c11c6af7cdd1458f03b371ccbd	We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (@DISEASE$), moderate hearing loss, Dandy-Walker malformation, @PHENOTYPICFEATURE$, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and short stature.	false
+63aa8a4ce6327196d40f219e47f71638a4f881ed	Four of the five children diagnosed as @DISEASE$, Lennox syndrome, or petit mal epilepsy also had cerebral palsy and @PHENOTYPICFEATURE$.	false
+8a5c20eee248e9f6a25112db8923acfeff5c0947	Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, @DISEASE$, @PHENOTYPICFEATURE$, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus.	false
+539b232688f18d59e95635fcb87841abeb8d0aa1	Biallelic loss-of-function UBA5 mutations in a patient with intractable @DISEASE$ and profound @PHENOTYPICFEATURE$.	false
+e41abb85948ba74be37b2f544df4508d79a21822	We identified biallelic mutations in UBA5 in a Japanese boy with intractable @DISEASE$, profound @PHENOTYPICFEATURE$, and severe cerebral and cerebellar atrophy.	false
+31e5087721b71c1223befd55fb4edc47d243b3a4	Complement component @DISEASE$ reduces @PHENOTYPICFEATURE$ formation in murine ligation-induced acute pancreatitis.	false
+b7af0f6e8a8f522bffcc2ca422b57254b024f3e7	Further, angiotensin-converting enzyme inhibitors potentiated TCT-evoked paw @PHENOTYPICFEATURE$ in BALB/c, C57BL/6, and @DISEASE$ A/J mice through activation of joint pathways between C5aR/B2R or C3aR/B2R.	false
+67cf1c76e393770820cfdafddf757c03a7a81649	We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), @DISEASE$, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor @PHENOTYPICFEATURE$.	false
+f88b4bdde4db31b5d983032319fb44ebd852052c	Two siblings with 46,XY DSD, @DISEASE$, aniridia, craniofacial, and @PHENOTYPICFEATURE$ and intrauterine growth retardation: a new syndrome?	false
+f09c352b511268f5856c3620956d2e068e6f133a	Bilateral malformative @PHENOTYPICFEATURE$ associated with @DISEASE$ years of follow-up.	false
+ac9b19218c8dd21318c358dc0c69bc5a60068c58	Mutations in MYCN are associated with @DISEASE$, a developmental disorder characterized in part by @PHENOTYPICFEATURE$.	false
+dfe84e78bff8844a5c9a69c644c16ad72825902c	Symptoms of @DISEASE$ include decreased mandibular range of motion, muscle and @PHENOTYPICFEATURE$, joint crepitus, and functional limitation or deviation of jaw opening.	false
+d5ce93a0e69ce5dee6f8821561a7b174c646b9e0	Bruxism, joint ankylosis, @PHENOTYPICFEATURE$ and ear itching were more common in @DISEASE$ than non-TMD patients.	false
+68b2f688165c85daf3f29fecb0fa66ba7be4b110	Our findings indicate that habit of teeth clenching in patients with @DISEASE$ affects biomechanically both muscles and joints of the masticatory system, resulting in muscle/@PHENOTYPICFEATURE$, and that stress factor aggravates those symptoms.	false
+454ebf8477d6d9ab213152b9605ebbb15c93564b	Four groups were included in the study: articular @DISEASE$ and systemic @PHENOTYPICFEATURE$ (n=85), no articular TMD and systemic arthralgia (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+24947f7540e48250da244781ed782e7698fa0fa1	Four groups were included in the study: articular TMD and systemic arthralgia (n=85), no articular @DISEASE$ and systemic @PHENOTYPICFEATURE$ (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+3f3641bdf43b61695feb0652a97ff49d0b5e9189	Four groups were included in the study: articular @DISEASE$ and systemic arthralgia (n=85), no articular TMD and systemic @PHENOTYPICFEATURE$ (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+f8dbbcc8e87039c0332fc3646baa4f6e1e4a2cf2	Four groups were included in the study: articular TMD and systemic @PHENOTYPICFEATURE$ (n=85), no articular TMD and systemic arthralgia (n=82), articular @DISEASE$ and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+1175adceb1d2d1d69c8ee1a72c36123557a77664	Four groups were included in the study: articular TMD and systemic arthralgia (n=85), no articular TMD and systemic @PHENOTYPICFEATURE$ (n=82), articular TMD and no systemic arthralgia (n=21), no articular @DISEASE$ and no systemic arthralgia (control, n=72).	false
+90ee77aab0436ededbc3681173bb3698a1815c7d	Four groups were included in the study: articular TMD and systemic @PHENOTYPICFEATURE$ (n=85), no articular TMD and systemic arthralgia (n=82), articular TMD and no systemic arthralgia (n=21), no articular @DISEASE$ and no systemic arthralgia (control, n=72).	false
+d150456a95967c009a703296a397b67c222d49db	Four groups were included in the study: articular TMD and systemic @PHENOTYPICFEATURE$ (n=85), no articular @DISEASE$ and systemic arthralgia (n=82), articular TMD and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+6896e7e6f8a8887f430f9afe636c2ebdde807617	Four groups were included in the study: articular TMD and systemic arthralgia (n=85), no articular TMD and systemic @PHENOTYPICFEATURE$ (n=82), articular @DISEASE$ and no systemic arthralgia (n=21), no articular TMD and no systemic arthralgia (control, n=72).	false
+dce48770b68e0a92a8efb165a72a89f06c5b95f4	The levels were also worse in most Axis I @DISEASE$ groups (muscle disorders and @PHENOTYPICFEATURE$/osteoarthritis/osteoarthrosis).	false
+0edd76fe531cc2dde30ae433550f80521f15236b	Significant correlations between severe @DISEASE$ and otalgia (P < 0.001), tinnitus (P = 0.010), ear @PHENOTYPICFEATURE$ (P < 0.001), and aural fullness (P = 0.014) were also observed.	false
+d8304dfdaa82b98d27a21ce907b3952bf54afa41	Maximum unassisted jaw opening, maximum assisted jaw opening, history of locked jaw, joint sound with and without compression, @PHENOTYPICFEATURE$, facial pain, pain on palpation of the lateral pterygoid area, and overjet proved suitable for distinguishing between subtypes of joint-related @DISEASE$.	false
+0f863df2feb53614d483b1545d2e531628af5f21	In accordance with the DC/@DISEASE$ criteria, left TMJ @PHENOTYPICFEATURE$ and degenerative joint disease was diagnosed and was later corroborated by cone beam computed tomography.	false
+e9e54205875a578b82a46b9f9dc773cd5142a293	Neck pain, @PHENOTYPICFEATURE$, and fibromyalgia all appear to increase with age in both genders, whereas abdominal pain and tension-type headaches decrease with age, and migraine headache and @DISEASE$ appear to peak in the reproductive years.	false
+11ecedbb5731eebe36b94811a08098deecc0ae5b	Patients with temporomandibular disorders (@DISEASE$) commonly experience myofascial and @PHENOTYPICFEATURE$, pain-related disability, and other pain conditions including depression.	false
+24d833548681c6cfd05ebae646cdf241fd6831ab	Morquio Syndrome (@DISEASE$ A) is a rare inherited connective tissue disorder characterized by @PHENOTYPICFEATURE$, restrictive pulmonary disease and normal intelligence.	false
+dde217c6dc2d86d3491ced8a17d13aefb32e0475	In Morquio type A syndrome @DISEASE$ causes the accumulation of KS in tissues and results in generalized @PHENOTYPICFEATURE$ in affected patients.	false
+1645ca827a90950c33e194b8bf2aabb7e7430f04	Morquio syndrome, or @DISEASE$, is a rare enzyme deficiency disorder and results in @PHENOTYPICFEATURE$.	false
+3b4bf636f70d3d8b603fdb60d316f4207b40e39f	Main symptom of @DISEASE$ (MPS IVa) is progressive systemic @PHENOTYPICFEATURE$.	false
+f708e9d2f917a2ae779b6b9cf7d0d51e414574ec	This research is to explore the perfusion time-intensity curve parameters of a lung adenocarcinoma xenograft into nude mouse model with contrast enhanced ultrasonography(CEUS);and to investigate the angiogenesis features of tumor at different growth time.Twenty one lung adenocarcinoma xenografted nude mice were divided into three groups and inculcated with human lung adenocarcinoa.Time window for examining CEUS were respectively in7-day,14-day and 28-day.The perfusion parameters including rise time(RT),peak intensity(PI),area under the curve(AUC)of @PHENOTYPICFEATURE$ were obtained on CEUS images by using off-line software Q lab.Immunohistochemically staining for CD34 was used to observe the microvessel density(MVD).The 7-day group had the highest AUC and PI;AUC and PI of 14-day and 28-day group decreased gradually(P<0.05).RT was increased as tumor growth.In tumor with necrosis,AUC and PI of non-necrosis part were also larger than necrosis part(P<0.05).Immunohistochemically staining for CD34 of all tumors reflected that the density of microvessels in necrosis tumor was significantly higher than those without necrosis(7.50?3.44 vs.12.44?5.74,P=0.034).Pearson correlation indicated that PI was positively related with @DISEASE$(r=0.668,P=0.008).Lung adenocarcinoma perfusion characteristic can be accessed from time-intensity curve parameters by using noninvasively and non-radiative contrast enhanced ultrasonography.Time-intensity curve parameters including AUC,PI and RT may reflect tumor angiogenesis.	false
+ecdf7f8c06a70ded4641e5f628a88be5242a4208	This research is to explore the perfusion time-intensity curve parameters of a lung adenocarcinoma xenograft into nude mouse model with contrast enhanced ultrasonography(CEUS);and to investigate the angiogenesis features of tumor at different growth time.Twenty one lung adenocarcinoma xenografted nude mice were divided into three groups and inculcated with human lung adenocarcinoa.Time window for examining CEUS were respectively in7-day,14-day and 28-day.The perfusion parameters including rise time(RT),peak intensity(PI),area under the curve(AUC)of @PHENOTYPICFEATURE$ were obtained on CEUS images by using off-line software Q lab.Immunohistochemically staining for CD34 was used to observe the microvessel density(@DISEASE$).The 7-day group had the highest AUC and PI;AUC and PI of 14-day and 28-day group decreased gradually(P<0.05).RT was increased as tumor growth.In tumor with necrosis,AUC and PI of non-necrosis part were also larger than necrosis part(P<0.05).Immunohistochemically staining for CD34 of all tumors reflected that the density of microvessels in necrosis tumor was significantly higher than those without necrosis(7.50?3.44 vs.12.44?5.74,P=0.034).Pearson correlation indicated that PI was positively related with MVD(r=0.668,P=0.008).Lung adenocarcinoma perfusion characteristic can be accessed from time-intensity curve parameters by using noninvasively and non-radiative contrast enhanced ultrasonography.Time-intensity curve parameters including AUC,PI and RT may reflect tumor angiogenesis.	false
+2c6b8fdf09d63554543e9dafd0af01ba1c582892	By manual counting under light microscopy, the relative level of @DISEASE$ of the @PHENOTYPICFEATURE$ vs. skeletal muscle was 0.8.	false
+c9274266fa6eabb2ac2b76610d36f4c95425c20b	Symptoms significantly associated with being a @DISEASE$ case included hiccups, anorexia, fatigue, @PHENOTYPICFEATURE$, sore throat, and difficulty swallowing.	false
+3932cebc44a07a4b015cded7d9b60ba57a7f4a28	Proper dissection of the rhomboid lip away from the arachnoid membrane and/or the lower CNs during @DISEASE$ surgery provides good visualization of the root exit zone of CN VII and reduces injury of CNs IX and X, avoiding postoperative deficits like @PHENOTYPICFEATURE$.	false
+e461fe5f4db09d2c06957828f9a9a1488bea6e29	The MAV, VEGF expression, and @DISEASE$ in lung tumors with lymph node involvement were greater compared with the same values in @PHENOTYPICFEATURE$ without lymph node involvement.	false
+ccbf659763ca61cc7563bae901e70fddc60418b3	The MAV, VEGF expression, and @DISEASE$ in @PHENOTYPICFEATURE$ with lymph node involvement were greater compared with the same values in lung tumors without lymph node involvement.	false
+fa909eb9aa383e447897db7ad30d4db942166e83	Furthermore, recombinant sv-cystatin significantly suppressed microvessel density (@DISEASE$) of @PHENOTYPICFEATURE$ colonies in C57BL/6 mice inoculated in the lateral tail vein with B16F10 melanoma cells.	false
+76cf12e737b63a049e7ae730617e5269d3e0317a	Several ocular diseases involve the iris, notably including oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, and exfoliation syndrome.	false
+515beb5e1b7e0387c09738e42f41bc4ec2ee4883	Potentially informative image patterns were observed in subjects with cataracts, diabetic retinopathy, Posner-Schlossman syndrome, iridociliary cysts, long anterior lens zonules, nevi, oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, pseudophakia, suspected vascular anomaly, and trauma.	false
+21dc0a32c0949a42b576d89b50aa89cbb117f663	Some patients with @DISEASE$ had a generalized visceral hypersensitivity to @PHENOTYPICFEATURE$; all areas of the pelvis and bowel were sensitive, and pain was not completely blocked with local anesthesia.	false
+de38260258274cae61dafdc38ea7cdbce3c9ea28	In 1990, @DISEASE$ was reported as an apparently autosomal recessive multiple congenital anomaly/@PHENOTYPICFEATURE$ (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123].	false
+f4a49bb0153046ca484125c28c529edfd3869636	Cerebral microbleed (CMB) location (deep versus strictly lobar) may elucidate underlying pathology with deep CMBs being more associated with @PHENOTYPICFEATURE$ vascular disease and lobar CMBs being more associated with @DISEASE$.	false
+75042b10734b19fe728beb0375b17415f030b57c	@DISEASE$ diarrhea, symptoms included abdominal pain, weight loss, bloating, flatulence, @PHENOTYPICFEATURE$ and others.	false
+747372bbf36ef9a6936017d3225a7f2470d2d3f9	Daily symptoms (vertigo, aural fullness, @PHENOTYPICFEATURE$, hearing loss, and attack prevalence) and @DISEASE$ locations were collected; these data were linked with Met Office weather data (including atmospheric pressure, humidity, temperature, visibility, and wind speed).	false
+6fb3cda0062b86a46215f960a77e9ba10169fb9f	Nutrigenomic targeting of carbohydrate craving behavior: can we manage @PHENOTYPICFEATURE$ and aberrant craving behaviors with neurochemical pathway manipulation by Immunological Compatible Substances (nutrients) using a Genetic Positioning System (@DISEASE$) Map?	false
+1098b5a78f9a63b0bd9824ded3c96018c66d34fd	The effects of genetic variants individually and combined in a genetic predisposition score (@DISEASE$) on @PHENOTYPICFEATURE$-related traits were studied cross-sectionally and longitudinally.	false
+e9ba563ea6d3a9e702fe9b93e9c0a9366929a664	The purpose of this study was to evaluate the feasibility of using global positioning system (@DISEASE$) methods to understand the spatial context of @PHENOTYPICFEATURE$ and hypertension risk among a sample of low-income housing residents in New York City (n = 120).	false
+ed004d9e51b47ea383c11b8dfbb12f80fdba7963	We hypothesize that the decrease in gene expression levels of intestinal @DISEASE$ may contribute to the development of hypertension and @PHENOTYPICFEATURE$ during hypercaloric diet intake.	false
+97e369613dd78d2e33fe5dd82237148d241d35bf	Geographic Information Systems (GIS), Global Positioning Systems (@DISEASE$), and remote sensing (RS) are revolutionizing @PHENOTYPICFEATURE$-related research.	false
+c243d4940cbfc92ba0b817a55183376536ae7c65	The @DISEASE$ was also associated with an 11% higher risk of @PHENOTYPICFEATURE$ (OR [95%CI]?=?1.11 [1.05 - 1.18], p?=?0.0004).	false
+552d4b2f65ca764ae90b7e837fd354673999e3b7	To estimate the contribution of 9 @PHENOTYPICFEATURE$-related polymorphisms and a genetic predisposition score (@DISEASE$) on anthropometric and biochemical variables before and after a weight loss intervention program in overweight/obese Spanish adolescents.	false
+ae39ad9b009b15b201983efc48af1e1183d6293e	Chi-square tests, correlation coefficients and weighted multiple linear and logistic regression were used to assess the associations of GSQ, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+26b0e298b4343fe9673bea820d7810a007168713	The reported phenotype is considered a relatively mild variant of @DISEASE$ and is associated with later-onset (18?months) therapy-resistant nephrotic syndrome leading to @PHENOTYPICFEATURE$, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity.	false
+9201c4361b3e577a31e87bdc193ebe8fdbd8ba46	LAMB2 mutations cause @DISEASE$ (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset @PHENOTYPICFEATURE$, as well as bilateral microcoria.	false
+b814de9fc1f0498250c2cc00a4444be94fb37a46	Mutation of the dihydroorotate dehydrogenase (DHODH) gene is responsible for @DISEASE$, which is characterized by craniofacial malformations with @PHENOTYPICFEATURE$.	false
+5ec18c060b64362f2574536c07dd00ea5eac7695	@DISEASE$ syndrome with @PHENOTYPICFEATURE$, seizures and profound mental retardation.	false
+2c3a5c218c9b1b49ba9fa27bf581b3011a2ba7c3	Among the conditions associated with MSK are Beckwith-Wiedemann syndrome/hemihyperplasia (13%), horseshoe kidney, congenital small kidney, @PHENOTYPICFEATURE$, @DISEASE$, congenital hepatic fibrosis, Ehlers-Danlos syndrome, Marfan syndrome, immotile cilia syndrome, and arterial fibromuscular dysplasia.	false
+241f736bbde84522ff19a0ef08bd60694302f4f7	In Yoshida sarcoma-bearing rats, the FdUMP-bound TS level in the @PHENOTYPICFEATURE$ did not differ significantly between the PN and @DISEASE$ rats.	false
+e224ce989472add929dee53a5cd3d9377b685d2f	Frontal executive dysfunction (@DISEASE$) and abnormalities in volumetric magnetic resonance imaging (MRI) have been described in juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	false
+8db70fb2b9c4a8c3f43296c71046fb01d4fee484	This study was performed to identify the lipoproteins important for the development of @PHENOTYPICFEATURE$ in genetically diagnosed FLD in comparison with @DISEASE$, using high-performance liquid chromatography with a gel filtration column.	false
+653fa5cbd94e81f88aac24ff1e5c784a4db6daf5	Patients with FLD and @DISEASE$ frequently present with corneal opacity, anemia and @PHENOTYPICFEATURE$ with proteinuria.	false
+948010db18ac389a375c8c60f98990b5d3cb5840	The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, @PHENOTYPICFEATURE$, and fish eye disease (@DISEASE$) without any other severe symptoms.	false
+ea9169cc0fb9fa06ad9b65a319f31ef96cf4adc2	The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, @PHENOTYPICFEATURE$, and @DISEASE$ (FED) without any other severe symptoms.	false
+3080be5241db1d441e683d265d64f2fc08849be7	The aim of this study was to evaluate the expression of papillary thyroid carcinoma (PTC)-associated @PHENOTYPICFEATURE$ markers in follicular epithelial dysplasia showing PTC-like nuclear alterations (@DISEASE$) in Hashimoto's thyroiditis (HT) and to explore the relationship between HT and PTC.	false
+ed64be2982ee2501b20459c9e1928229fe996a45	In humans, inherited deficiency of hepatic or type I arginase results in @DISEASE$, a syndrome characterized by periodic episodes of hyperammonemia, spasticity, and @PHENOTYPICFEATURE$.	false
+f4d25d2bb458b9b37d599dd0697fa83ab1765b78	@DISEASE$ hypertrophic cardiomyopathy combined with bilateral @PHENOTYPICFEATURE$ in Leriche syndrome: a rare coexistence.	false
+aa05fe6672e22c0d3137f1119ebd3a42cc281b53	This is the first detailed description of an @DISEASE$ family without @PHENOTYPICFEATURE$.	false
+ae6f8504fdf8d11848f56eb26ccf01bfff684469	The relationship between @PHENOTYPICFEATURE$, nephrotic range proteinuria and @DISEASE$ is reviewed.	false
+6fe1e2f280b1d300467d8a96a1ecf571a7e64e03	@DISEASE$ hypertrophic cardiomyopathy with hemodynamically unstable @PHENOTYPICFEATURE$ - Atypical presentation.	false
+6a8e2d07a0735742d44e7461ef59ebec956081c2	Our previous studies found that Astragalus polysaccharide (@DISEASE$) exerts insulin-sensitizing and @PHENOTYPICFEATURE$ activities in type 2 diabetic (T2DM) rats.	false
+4a33c58dc70ac1171e49d446a5d85939f6343a74	The @PHENOTYPICFEATURE$ status, insulin sensitivity, glucose uptake, and activation level of AMPK in diabetic rats were improved in response to @DISEASE$ administration.	false
+00f42ed8d675ca9aad73ce79066d4d1de647bc76	The clinical syndromes of renal involvement in @DISEASE$ includes @PHENOTYPICFEATURE$, arterial hypertension, APS nephropathy--with variable degrees of severity, extension and chronic microangiopathy, renal vein thrombosis, renalfailure, allograft vascular thrombosis.	false
+3a469e14ee287633c998b8f90ced4832bf5793b6	The clinical syndromes of renal involvement in APS includes @PHENOTYPICFEATURE$, arterial hypertension, @DISEASE$ nephropathy--with variable degrees of severity, extension and chronic microangiopathy, renal vein thrombosis, renalfailure, allograft vascular thrombosis.	false
+c622b7b5181ed32890d69e2de5ab053feedef1d1	We report the case of a young woman with primary antiphospholipid syndrome (@DISEASE$), which presented with acute renal failure, hypoproteinemia, @PHENOTYPICFEATURE$ and nephrotic proteinuria.	false
+8ce60542027d0c728dd85e3820ebf90b9cd28d01	@DISEASE$ hypertrophic cardiomyopathy: a case of slow flow in lad and malign @PHENOTYPICFEATURE$.	false
+5f48b6eeee36a77ee2ffcdab394d26981f52d59e	@DISEASE$ hypertrophic cardiomyopathy due to a de novo @PHENOTYPICFEATURE$ Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood.	false
+dc9db64f22345329ec203afe9369a903cc024c68	We tested a total of 427 subjects from Baranja and Me?imurje for the presence of four mutations causing hereditary motor and sensory neuropathy type Lom (HMSNL), @DISEASE$ (GM1), congenital cataracts, @PHENOTYPICFEATURE$ and neuropathy (CCFDN), and limb girdle muscle dystrophy type 2C (LGMD2C), using the RFLP-PCR method to estimate carrier frequencies.	false
+8a6515e7e150c3502ebfe600dd2e5940817b43bf	Peculiar facial appearance and generalized @PHENOTYPICFEATURE$ in a patient with congenital onychodysplasia of the index fingers (@DISEASE$).	false
+0397dc4a7f4e2bdbe668c8a46e410658d0d07d83	Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very @DISEASE$ @PHENOTYPICFEATURE$.	false
+adf3e804f72b908e3c4a0921d6ab625854fa712a	Almost a quarter (23%) of cancer patients presented with @PHENOTYPICFEATURE$ before being diagnosed with one of 27 common and @DISEASE$ cancers.	false
+86fdd33de3b47f480c51113c30b25b0d909a2857	Extraadrenal phaeochromocytomas are very @DISEASE$ tumours, commonly associated with @PHENOTYPICFEATURE$ paroxysms.	false
+f5cf8f0ea8d6b4201fd255ef45d13621ca0972b7	Neuroacanthocytosis: A @DISEASE$ @PHENOTYPICFEATURE$ with magnetic resonance imaging.	false
+0903087570c4c30d08b2a738234cb1bf181834bf	Anorectal, renal or @PHENOTYPICFEATURE$ @DISEASE$ caused death, but, when severe, were associated with a poor quality of life.	false
+2dba579e98ef79e7e1f0797eaad7666f1282bb74	Using next-generation sequencing for the diagnosis of @DISEASE$ disorders: a family with retinitis pigmentosa and @PHENOTYPICFEATURE$.	false
+29bd955fe91fcb5bf82c91c815024c2dbc14dcaf	The case is being reported because of common manifestations of @DISEASE$ disease and its associated cardiac and @PHENOTYPICFEATURE$.	false
+ad6a24c5a01ba8793dbe616836b6258b64847c7d	Autosomal recessive @PHENOTYPICFEATURE$ (ARH) is a very @DISEASE$ disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1).	false
+dc93d41fef86deb53bed3408960290ffd7abd9dd	@PHENOTYPICFEATURE$ and @DISEASE$ dermatological diseases: an intriguing case of xanthoma disseminatum.	false
+70c551a1b57b9024d2a3cdfb61e242c9500ebce0	@PHENOTYPICFEATURE$ type A, which is a very @DISEASE$ disease, is often manifested in menstrual disorders and/or anovulation.	false
+e9a48422e248d4519261d784176f90e0edb8942e	 and phenotypic characteristics typical of this @DISEASE$ and also including partial @PHENOTYPICFEATURE$, hypothyroidism, growth hormone deficiency, and hyperprolactinemia.	false
+4b1bd9f874bc5ba4471773be4c25396ae76bcdd8	@DISEASE$ (VKC) is a severe, chronic allergic inflammatory disease of the ocular surface poorly responsive to antiallergic treatments and possibly leading to permanent @PHENOTYPICFEATURE$.	false
+4ea021c12d7869943ae4fd4022904d576117aca2	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: @DISEASE$; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+66763113419af69cc1ee84431f72e08049a37f67	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; @DISEASE$: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+01a30756f1d32117d9f859e2215725b2472f8ec3	Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, @PHENOTYPICFEATURE$ and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and @DISEASE$ syndrome.	false
+47b20b988414a7bdcf75eb1904b0c191b3039c70	Tetranucleotide CCTG repeat expansion is associated with @DISEASE$, which is an inherited and progressive @PHENOTYPICFEATURE$ disease.	false
+f740ceb4bc85ced6678e2e105de28bd8fc01178a	Myotonic dystrophy type 1 (DM1) and @DISEASE$ (DM2) are multisystemic diseases that primarily affect skeletal muscle, causing myotonia, @PHENOTYPICFEATURE$, and muscle weakness.	false
+60ffb60c745806d8de289e78b9721b354e76ec72	Lenz-Majewski syndrome (@DISEASE$) is a syndrome of @PHENOTYPICFEATURE$ and multiple congenital anomalies that features generalized craniotubular hyperostosis.	false
+7d746b97a2d1d21090edc6578cab4bc00a9d3e2c	The Bardet-Biedl syndrome (BBS), which consists of polydactyly, obesity, @PHENOTYPICFEATURE$, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+d1409e059707ac890a706afc53bf12d8e8201aa4	They are differentiated by the presence of @PHENOTYPICFEATURE$ and the absence of polydactyly in @DISEASE$.	false
+dc205c3d62f3620226b6684999655051d5e0786d	Lenz-Majewski syndrome (@DISEASE$) is an extremely rare syndrome characterized by osteosclerosis, @PHENOTYPICFEATURE$, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies.	false
+7fd655a0bbf54b4ad53f473f01b3f80ff25bc70a	This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or rare disorders (@DISEASE$, atransferrinemia, aceruloplasminemia, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's @PHENOTYPICFEATURE$, and X-linked sideroblastic anemia with ataxia).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+f4e1200424a81acf1e40969188305b019d50cda1	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, @DISEASE$, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+8081e3157eb95e2c3f1c6069567287eabb0fb4ee	Extrahepatic @PHENOTYPICFEATURE$ and renal anomalies in @DISEASE$.	false
+754f16542bfcf0679e382268800aa911c036beea	An inborn @DISEASE$ of purine metabolism, @PHENOTYPICFEATURE$ and neurodevelopmental abnormality.	false
+88fa287aa1f36d474d7736e800beb681b2c6ef2f	Regression analyses with complex survey designs were performed to assess the associations of @DISEASE$ with other @PHENOTYPICFEATURE$ measures, hypertension and T2DM.	false
+28f92ba75d98a27b02f627610027f565c61e2af8	Of 84 patients with spontaneous @PHENOTYPICFEATURE$, 31 @DISEASE$ patients were divided into 2 groups.	false
+d21ddf961851c3273a212992a926a44c167aef8a	Examples include inborn @DISEASE$ in mitochondrial metabolism or end-stage @PHENOTYPICFEATURE$.	false
+59ac3e66a8ca73c540b9ae78610fdd2f45749102	The major causes of primary @PHENOTYPICFEATURE$ include dietary @DISEASE$ (e.g.	false
+20cee17f53e4fa91042d6fd60973292d5d4484fd	Richner-Hanhart syndrome (tyrosinemia type 2) is an inborn @DISEASE$ of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including @PHENOTYPICFEATURE$ and keratosis palmoplantaris.	false
+742b2031398f960df1aeb4b26ab40b0619ef081e	Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inborn @DISEASE$ of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and @PHENOTYPICFEATURE$.	false
+556d3dad8eb8f1974151932fee4ac9fc6ceb15f1	This finding, together with neurosensory @PHENOTYPICFEATURE$ and other neuromuscular defects, may suggest that there is an underlying inborn @DISEASE$ of nervous system in the KID syndrome.	false
+67ba627a1b53ed94794b459a87468968484dc5ac	[Screening test detection of genetic @DISEASE$ of metabolism in children with @PHENOTYPICFEATURE$ (author's transl)].	false
+2c8805b10ba2879a2b414b56b790eadd868b213e	In the @DISEASE$ group, all patients were male and most patients experienced @PHENOTYPICFEATURE$ during sleep or low activity (79%).	false
+fbcc54a9c8825bcd389cd43a480c8e12d2353a1f	The panel made recommendations for (1) watchful waiting for recurrent throat infection if there have been fewer than 7 episodes in the past year or fewer than 5 episodes per year in the past 2 years or fewer than 3 episodes per year in the past 3 years; (2) assessing the child with recurrent throat infection who does not meet criteria in statement 2 for modifying factors that may nonetheless favor tonsillectomy, which may include but are not limited to multiple antibiotic allergy/intolerance, @DISEASE$, or history of peritonsillar abscess; (3) asking caregivers of children with sleep-disordered breathing and tonsil hypertrophy about comorbid conditions that might improve after tonsillectomy, including @PHENOTYPICFEATURE$, poor school performance, enuresis, and behavioral problems; (4) counseling caregivers about tonsillectomy as a means to improve health in children with abnormal polysomnography who also have tonsil hypertrophy and sleep-disordered breathing; (5) counseling caregivers that sleep-disordered breathing may persist or recur after tonsillectomy and may require further management; (6) advocating for pain management after tonsillectomy and educating caregivers about the importance of managing and reassessing pain; and (7) clinicians who perform tonsillectomy should determine their rate of primary and secondary posttonsillectomy hemorrhage at least annually.	false
+4ef48fbec45eb9116ac5ff9b951941c2d9d4a98b	Autosomal recessive @PHENOTYPICFEATURE$ with skeletal dysplasia and facial appearance of @DISEASE$.	false
+ec32917c625bafdc177198f4bab3efc207627b5f	This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of @DISEASE$, @PHENOTYPICFEATURE$, and skeletal dysplasia.	false
+c869e3ee2040f093bb2c63ab650c06a86a0f3ca4	The study population included 96 consecutive patients [68 men, median age 27 (22-32) years] with cardiomyopathies, such as arrhythmogenic right ventricular cardiomyopathy (n?=?35), dilated cardiomyopathy (n?=?17), hypertrophic cardiomyopathy (n?=?15), Brugada syndrome (n?=?14), idiopathic ventricular fibrillation (n?=?5), @PHENOTYPICFEATURE$ (n?=?4), long-QT syndrome (n?=?4) and @DISEASE$ (n?=?2), who were 18-35 years old at the time of ICD implantation.	false
+d55ed22858f797ea4df97ca374dcac0c3eaf4a47	The aim of this study was to examine the electrophysiological effects of isoprenaline, phenylephrine, and noradrenaline on sheep Purkinje fibers in vitro, superfused either with a normal or with a modified physiological salt solution (@DISEASE$) designed to mimic some of the conditions occurring during mild myocardial ischemia (@PHENOTYPICFEATURE$, hypoxia, and acidosis).	false
+88dec22f4a06754a6222b32f0d343146fe74a624	A 79-year-old woman with progressive systemic sclerosis (@DISEASE$) presented with acute @PHENOTYPICFEATURE$, hypertension and renal failure.	false
+424c80f7e9563c760462a0fd8aee0aa424fb6466	A 35-year-old female with progressive systemic sclerosis (@DISEASE$) and Sj?gren's syndrome developed consciousness disturbance and @PHENOTYPICFEATURE$ after the episode of fever and erythema lasting for 3 weeks.	false
+6ff1b197bb6dccee23fb4828515a14e3184145da	It is well known that patients with silicosis are frequently associated with @PHENOTYPICFEATURE$, RA or @DISEASE$.	false
+5c3a73aabb5dd13f69485cfe9e693dda72bb6316	@PHENOTYPICFEATURE$, central core disease, and @DISEASE$ have been genetically linked to mutations in either RyR1 or RyR2.	false
+2ed2dc19fc1dc725a3c3fddc721b11e265a1212d	In a cohort of Finnish @DISEASE$ patients, @PHENOTYPICFEATURE$ and non-maladaptive behaviour were described.	false
+66c384830fbc39fd79146ca099b5c99e72db3a78	@DISEASE$ is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual @PHENOTYPICFEATURE$.	false
+21660d240879e41225a214cc30f7097c435bc57b	@DISEASE$ is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual @PHENOTYPICFEATURE$, facial dysmorphisms and intermittent neutropenia.	false
+46cad60ccaaed19475576ed89e0e780e41d4eda5	A 9.5-year old @PHENOTYPICFEATURE$ boy is reported with the typical features of the @DISEASE$.	false
+13bf99b479ae84111e85a8bfeefba2ccead899b3	Mutations in hVPS13 genes are linked to rare neurodegenerative disorders: chorea- acanthocytosis (hVPS13A), @DISEASE$ (hVPS13B), predispose to early onset into Parkinson disease (hVPS13C) and lead to @PHENOTYPICFEATURE$/spastic paraplegia (hVPS13D).	false
+20f66c2257807df5032edfaf705c28ccb6ace8b2	A case of bilateral @DISEASE$ with bilateral post axial @PHENOTYPICFEATURE$, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the newborn unit.	false
+09c3ff99826475c18ac5ad4fc03e74d852338a09	@DISEASE$ with post axial @PHENOTYPICFEATURE$, bilateral camptodactyly and club foot in a Kenyan neonate: a case report.	false
+6416bbe9d047fa5db937cf506ca933439d71273f	The patient carrying the last duplication presents sex reversal, @DISEASE$ and @PHENOTYPICFEATURE$ and the duplication is located 4Mb away from the HSD17B1 gene, coding a key enzyme of testosterone biosynthesis.	false
+c38c14fe52584a4c8172bb3b4bf81e9ccb72bb66	In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (@DISEASE$) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with @PHENOTYPICFEATURE$, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy.	false
+705f59328ebc49ca1c7c046c4ebc2f71d93f3413	Other syndromes with hair abnormalities may also mimic uncombable hair syndrome clinically and these include, Rapp-Hodgkin ectodermal dysplasia; loose anagen hair syndrome; ectodermal dysplasia, ectrodatyly, cleft lip/palate (@DISEASE$) syndrome; and familial tricho-odonto-onchyial ectodermal dysplasia with @PHENOTYPICFEATURE$.	false
+ef82d08080463aa777c1603484fef9c010df9087	Interestingly, patients with isolated PPNAD and no familial history of @DISEASE$ can also present a germline de novo @PHENOTYPICFEATURE$ of PRKAR1A.	false
+f56d188b67c5432b0182013b830d92ec29c48cae	Our success with this patient strongly supports the critical role of @PHENOTYPICFEATURE$ necrosis factor in the immunopathogenesis of some cases of @DISEASE$.	false
+fe0511adf4b6489c431e1ebb9ff8927f045690f6	The most common clinical developmental diagnosis was autism spectrum disorder (ASD) (30%), followed by isolated S&L disorder, global developmental delay (@DISEASE$) and @PHENOTYPICFEATURE$ (CI).	false
+6e398e3c8f8710e02d4591a9471374a4c0ac52fa	The conclusion was made that an initial diagnosis of @DISEASE$ is not necessarily associated with objective @PHENOTYPICFEATURE$.	false
+a75e4f3c8c8fe45cdc6d9eaf2a42fa11b1ecf27e	Glutaryl-CoA dehydrogenase deficiency (@DISEASE$) is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of glutaric, 3-hydroxyglutaric (3-OHGA) and glutaconic acids and clinically by severe neurological symptoms and @PHENOTYPICFEATURE$ whose pathophysiology is poorly known.	false
+b51b6459baf50a8a8c65e671552837ad1e1b8f37	All patients with a new diagnosis of @DISEASE$ should be assessed clinically for evidence of @PHENOTYPICFEATURE$ and, if present, a baseline transthoracic echocardiogram should be performed.	false
+dce845d8e7f40c2da10dae9bc9befd6c0d7e32f3	Learning points: In rare cases, @DISEASE$ may present with @PHENOTYPICFEATURE$ as the dominant feature.	false
+b2160de83f5433d62220f34b3c3e41dd285fa0d0	In addition, @DISEASE$ may be associated with single or multiple endocrinopathies, or with precocious puberty and @PHENOTYPICFEATURE$ in McCune-Albright syndrome.	false
+e66fe26da5a75a15c9c158718b7a58142165690f	@DISEASE$ (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait @PHENOTYPICFEATURE$ and one or more hyperfunctioning endocrinopathies (McCune-Albright syndrome [MAS]).	false
+647829b7b7d2bfd59ec47dca2b01ee16e72deb43	The patient had an 18-year history of @DISEASE$ involving the right frontal bone and ribs as well as multiple endocrinopathies, but no @PHENOTYPICFEATURE$ macules.	false
+29baec4bf85c16220d548cf1f05eb2f2d6bac09d	Additionally, there are non-endocrine manifestations, such as @DISEASE$ (FD), renal phosphate wasting, and @PHENOTYPICFEATURE$, i.e. caf?-au-lait spots.	false
+1f832066939894932d2853e05932e8dd5d14530d	McCune-Albright syndrome (MAS) is a genetic disorder characterized by the triad of @DISEASE$, @PHENOTYPICFEATURE$, and autonomous hyperfunction of various endocrine organs.	false
+057c127b81c17a253a63dd717f82a93c25ae0533	Activating mutations of the Gsalpha gene, encoded by the guanine nucleotide-binding protein, alpha stimulating (GNAS) locus located on chromosome 20q13, underlie different clinical phenotypes characterized by skeletal lesions [@DISEASE$ (FD) of bone], extraskeletal diseases (mainly endocrine hyperfunction and @PHENOTYPICFEATURE$) and variable combinations thereof [the McCune-Albright syndrome (MAS)].	false
+4321ba54064994cea0ad2b261ac9c987588ecf0d	In McCune-Albright syndrome (MAS), subjects show autonomous endocrine hyperfunction associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+499530ae86d3f50a1679ac7b4a31eeae7e56581e	Our patients also had mental deficiency, epilepsy, cherubism due to @DISEASE$ of the maxillae, gingival fibromatosis, @PHENOTYPICFEATURE$, and stunted growth.	false
+e70d9cb576a71527cc257fb06369159670a5f142	@DISEASE$ may involve the Aoditory system by producing conductive hearing loss, abnormal otoadmittance and @PHENOTYPICFEATURE$.	false
+c1fd8de3a06307bdb83d2b81d808a34b7f8373da	@DISEASE$ may involve the Aoditory system by producing @PHENOTYPICFEATURE$, abnormal otoadmittance and sensorineural hearing loss.	false
+465ef5f1dfbbe12174904434d8e18858e9ff2446	[Rituximab in @DISEASE$-associated peripheral ulcerative @PHENOTYPICFEATURE$].	false
+16dedcca089f1dc7ef7ad3938fcd67554c72d7b0	[Radiological evaluation of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+9046398f15dcf00373ad2fc0b156780820daba7d	@DISEASE$-associated necrotizing scleritis and peripheral ulcerative @PHENOTYPICFEATURE$ treated successfully with infliximab.	false
+b3728daa41b2bc4167fd8df385035aca7b3b0428	Mortality rate in @DISEASE$ patients developing necrotizing scleritis or peripheral ulcerative @PHENOTYPICFEATURE$.	false
+57433e2030d0259aed9864b0c03fdfa0a05849d2	Patients with scleritis associated with @DISEASE$ were older (P = 0.0261) and more often had bilateral scleritis (53%; P = 0.0221) than patients with scleritis associated with other systemic immune-mediated diseases; however, there was no statistical association with type of scleritis, sex, decrease in vision, anterior uveitis, peripheral ulcerative @PHENOTYPICFEATURE$, glaucoma, or cataract.	false
+cd4927631518be9383a0482d2c767162684f00e6	Patients with scleritis associated with @DISEASE$ were older (P = 0.0261) and more often had bilateral scleritis (53%; P = 0.0221) than patients with scleritis associated with other systemic immune-mediated diseases; however, there was no statistical association with type of scleritis, sex, decrease in vision, anterior uveitis, peripheral ulcerative keratitis, @PHENOTYPICFEATURE$, or cataract.	false
+249826b7158b59fc491ed2a4aba9267a4990cd4a	Patients with scleritis associated with @DISEASE$ were older (P = 0.0261) and more often had bilateral scleritis (53%; P = 0.0221) than patients with scleritis associated with other systemic immune-mediated diseases; however, there was no statistical association with type of scleritis, sex, decrease in vision, anterior uveitis, peripheral ulcerative keratitis, glaucoma, or @PHENOTYPICFEATURE$.	false
+fa90d795fbfc5167930ddf67c4941f9b5c830896	@DISEASE$ is thought to induce conductive hearing loss and/or @PHENOTYPICFEATURE$.	false
+3a48372a383bead6e0fd689d1c22f0747ae9c099	@DISEASE$ is thought to induce @PHENOTYPICFEATURE$ and/or sensorineural hearing loss.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+89c9b4be7be85b03acf46fff7e88b597b8771b8d	[Apperceptive form @PHENOTYPICFEATURE$ caused by anti-TNFalpha therapy to @DISEASE$].	false
+d18562f188add157eb19588bf6934313b6c8fce7	Hairy cell @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fa90a8a68cdbd0683003a014ce5fffb6acd4723b	A 44-year-old woman with @DISEASE$ presented with acute @PHENOTYPICFEATURE$ in the left eye.	false
+b8593c562b66db3dca0779ba0de89589b67571c8	@DISEASE$ with ocular @PHENOTYPICFEATURE$ type 2 (AOA2) is a neurodegenerative disorder characterised by early onset cerebellar ataxia, sensory-motor neuropathy and frequently increased levels of alpha-fetoprotein.	false
+a3c0fb5c81eca7025ffb687592427de5b2e622d1	Primary diagnoses were?lung cancer (n?=?77), melanoma (n?=?8), head and neck carcinoma (n?=?7), renal carcinoma (n?=?5), Hodgkin's lymphoma (n?=?3), urothelial carcinoma (n?=?3) and gallbladder adenocarcinoma, @PHENOTYPICFEATURE$ and @DISEASE$ (n?=?1 each).	false
+cf70908d7f7ae717d37eae2b3b79893c4a5aba1d	We describe a previously functionally independent 85-year-old woman who presented with subacute onset of dizziness and @PHENOTYPICFEATURE$ in the setting of metastatic @DISEASE$.	false
+c2ff8d8fecbf543318ffa788baa716bb9a26a69a	@DISEASE$'s @PHENOTYPICFEATURE$ is very severe; it contrasts drastically with that typically observed in multiple sclerosis.	false
+64a3f1c646bb3c943383712310aeaeed1f59f0bc	@PHENOTYPICFEATURE$ in AQP4-IgG positive @DISEASE$ spectrum disorder.	false
+7cf521d7762dcc54e35e8a542dd7c0860a1e508b	There is more common occurrence of @PHENOTYPICFEATURE$ at onset, predominant involvement of optic nerves and spinal cord and higher incidence of classical @DISEASE$.	false
+6e26fc38fd7aebba854f4bc2ddab5900ebf49427	Chronic, intractable neuropathic @PHENOTYPICFEATURE$ is a common and debilitating consequence of @DISEASE$ spectrum disorder (NMOSD) myelitis, with no satisfactory treatment; few studies have yet to explore its aetiology.	false
+d67ae6963a1ced97d76e62ddc867a18c30c1203d	@PHENOTYPICFEATURE$ tonic spasms and brainstem involvement in a patient with @DISEASE$ spectrum disorder.	false
+e3e5940fc2b1f2c121f3464f4bf32c51963a8fcc	Paroxysmal @PHENOTYPICFEATURE$ tonic spasms (PPTS) were initially described in multiple sclerosis (MS) but they are more frequent in @DISEASE$ (NMO).	false
+27e6438828a884af1fa1df7c1b5e30596b416230	@DISEASE$ spectrum disorders (NMOSD) are characterized by devastating optic neuritis attacks causing more structural damage and @PHENOTYPICFEATURE$ than in multiple sclerosis (MS).	false
+2c824d0d4fa067fe74350bf5363b8e22a963bcfd	@DISEASE$ spectrum disorder (NMOSD) has a wide disease spectrum and sometimes shows @PHENOTYPICFEATURE$ with brainstem manifestations.	false
+fc1350e3f0317a8c9bd02bb1e05ebca0127d31f4	@DISEASE$: association with paroxysmal @PHENOTYPICFEATURE$ tonic spasms.	false
+3e8ff067f96eed393a4789490e462af02613b3be	To investigate spinal cord and @PHENOTYPICFEATURE$ in @DISEASE$ (NMO), and its relationship with other MRI measurements and clinical disability, compared with patients with multiple sclerosis (MS) and healthy controls (HC).	false
+ee89467aeb8ff118a21e9c8b604c2b7a9d3506ec	@DISEASE$, @PHENOTYPICFEATURE$, and serum calcitriol levels.	false
+8d2e40eee7ea3d312ecdd2b8ebc5edfe44b4b277	@DISEASE$ and @PHENOTYPICFEATURE$ were diagnosed in 37 dogs.	false
+33185fde9f6ae885bdf1acfc71069361caf1ee65	Primary dural @DISEASE$ mimicking a chronic @PHENOTYPICFEATURE$.	false
+0f39b38301af3439106c74cd703e6a6b1ab08741	We report a patient presenting with @PHENOTYPICFEATURE$ with subsequent complete and sustained recovery of pituitary function after successful treatment of the @DISEASE$.	false
+bc452834991d671c194c98a387964f1301142f6a	Acute renal failure and @PHENOTYPICFEATURE$ as onset in splenic @DISEASE$.	false
+9ef93fc97b355ca55943140bd5762d42d148df1d	The stomach may be involved by a myriad of pathologies ranging from benign aetiologies like inflammation to malignant aetiologies like @PHENOTYPICFEATURE$ or @DISEASE$.	false
+99ac95b1c5b27d73ebc89cf9192929561a90efb5	Bone marrow and @PHENOTYPICFEATURE$ biopsies as well as review of the slides from the initial orchiectomy were all in favor of NKTCL-N @DISEASE$.	false
+0b9dd72823367d5fbbaf27e509d3a2afd3dcdfdc	We believe the orbital myositis and the multiple @PHENOTYPICFEATURE$ were paraneoplastic effects of the @DISEASE$.	false
+cd511880ce77b3d5faac87f065982e2ebc2b3267	Diffuse @DISEASE$ type B with optic chiasm infiltration, visual disturbances, hypopituitarism, @PHENOTYPICFEATURE$ and diabetes insipidus.	false
+e2d9c2d75aa18fc9b803ea1716012bfed07381fa	Diffuse @DISEASE$ type B with optic chiasm infiltration, visual disturbances, @PHENOTYPICFEATURE$, hyperprolactinaemia and diabetes insipidus.	false
+1e740474405214d54d11f1ee0888cb87b28fdd02	@DISEASE$, lymphocytic type, and @PHENOTYPICFEATURE$.	false
+19273d525a73683c56260a211fa59d39fe205f4f	Classic signs of @DISEASE$ deficiency were present, including hypocupremia, @PHENOTYPICFEATURE$, neutropenia, thrombocytopenia, and osteopenia.	false
+a15d5bab6e5f133b83b95743fc684013ceb5ec3c	@PHENOTYPICFEATURE$ and neutropenia caused by @DISEASE$ deficiency is a well-known consequence of long term total parenteral nutrition in the literature.	false
+b6863680f6a3e38334d41bc4c1b9305b56e9f45c	Male @DISEASE$ deficient rats had increased cardiac levels of fibronectin, decreased laminin levels, cardiac hypertrophy and @PHENOTYPICFEATURE$.	false
+f56b07978dbab1284a8220a6d6d30d0a25608de1	We hypothesized that developmental @PHENOTYPICFEATURE$, due to iron or @DISEASE$ deficiencies, induces angiogenesis/vasculogenesis in the neonatal brain.	false
+561fdb20a873ca310eb123d7d999f1e70528f75c	Dietary @DISEASE$ deficiency in animals is often associated with cardiac enlargement and @PHENOTYPICFEATURE$.	false
+5b7ad70b3849ead05bd650ea1dc35e8d449e7dff	@PHENOTYPICFEATURE$ and leukopenia caused by @DISEASE$ deficiency are well-documented consequences of long-term total parenteral nutrition.	false
+a682d9f75fd79c6de66c232bb5c5d483f40d6aa7	@PHENOTYPICFEATURE$ and neutropenia associated with @DISEASE$ deficiency of unclear etiology.	false
+def0cf536e0ca59f5a040ff3bb9e068985b194f7	@DISEASE$ deficiency is a known cause of @PHENOTYPICFEATURE$ and neutropenia that is easily remedied with copper supplementation.	false
+9aba10c746770878d12cfb1f50c39579163fba0e	Optic neuropathy, myelopathy, @PHENOTYPICFEATURE$, and neutropenia caused by acquired @DISEASE$ deficiency after gastric bypass surgery.	false
+64b8583a46a454a5ba5747422b8a59784a670f86	@PHENOTYPICFEATURE$ and neutropenia caused by @DISEASE$ deficiency.	false
+b21b278de9639aac6f63c8afb96ec116ccd64f46	Through collaboration with the Fry brothers at the University of Illinois, Meyers performed the first stereotactic ultrasonic ablations of deep brain structures to treat tremor, choreoathetosis, dystonia, intractable @PHENOTYPICFEATURE$, and @DISEASE$.	false
+74adaa363906c208315e54528cf561bf5e95f501	Cranial MR imaging examination findings of a three and half year old boy with Waardenburg syndrome are described which consisted of bilateral congenital @PHENOTYPICFEATURE$ (secondary type), and a @DISEASE$.	false
+906d71d1c7cb69a4967bba8f6f7fb25766eb3f5e	Two brothers presented with @PHENOTYPICFEATURE$ and almost identical inner ear and hypothalamic abnormalities, consistent with a diagnosis of X-linked stapes gusher syndrome and @DISEASE$.	false
+991774b174ef6207dd076f77cbc15987d7effd69	Clinical evaluation revealed that, in addition to bilateral eye defects, SOX2 mutations were associated with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, variable defects affecting the corpus callosum and mesial temporal structures, @DISEASE$, @PHENOTYPICFEATURE$, and esophageal atresia.	false
+931a7bd2b38d16375a16d2284b9ed0834d252349	@DISEASE$ with bilateral @PHENOTYPICFEATURE$.	false
+215ca7ef26e81b0e5263385961a15c212fdbc6db	This is a rare case of @DISEASE$ with bilateral @PHENOTYPICFEATURE$.	false
+1f16085c61d53a10ea92ec920c4f9c027568179c	We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, @PHENOTYPICFEATURE$, renal anomalies, imperforate anus, and @DISEASE$.	false
+df63ab01c3dd2085c1519e7a534c0cb5eb7e0490	These defects include anophthalmia (absence of eye), @PHENOTYPICFEATURE$ (small eye) and @DISEASE$ (HH), an overgrowth of the ventral hypothalamus.	false
+36dc9bf9f7aa96edaeb920b03f3cde165f26212b	A 20-day-old boy with @DISEASE$ and bilateral @PHENOTYPICFEATURE$ was presented.	false
+dd75679dfc7df89bb52d6292bdf4fe59fef39074	Mutations in plasma membrane are involved in a large number of clinical disorders, including dwarfism, @DISEASE$, congenital hyperthyroidism or hypothyroidism, nephrogenic diabetes insipidus, resistance to TSH, LH, FSH and ACTH, Jansen's metaphyseal chondrodysplasia and autosomal dominant @PHENOTYPICFEATURE$.	false
+08ab938fe766b915220e010878b2223a4b8ee4f6	@DISEASE$ @PHENOTYPICFEATURE$ stenosis, os odontoideum, degenerative changes of the atlanto-odontoid joint, and small oropharynx.	false
+97e105a121ac2795a4c20ebfb2e543743ed1a937	Furthermore, its therapeutic potential is being investigated in the field of sexually transmitted infections such as human immunodeficiency virus (HIV) and other diseases such as age-related macular degeneration (@DISEASE$), diabetes, @PHENOTYPICFEATURE$, respiratory disease, and cancer.	false
+b14145e3af45864e8ca6d37419a4ab86f2247879	Furthermore, its therapeutic potential is being investigated in the field of sexually transmitted infections such as human immunodeficiency virus (HIV) and other diseases such as @DISEASE$ (AMD), diabetes, @PHENOTYPICFEATURE$, respiratory disease, and cancer.	false
+f4e4cac7b6952a56295cab10018062d7ddab9c14	From this emerge both protective and disease-associated states in conditions such as proliferative diabetic retinopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+377a110bbe417d2f9651e1a88c1752e2044b287a	The following variables were selected for correlation with scleral hyaline plaque: sex, age, age range, iris color, ethnicity, presence of cataract, moderate to high myopia, age-related macular degeneration (@DISEASE$), diabetes mellitus, systemic arterial @PHENOTYPICFEATURE$, degenerative arthritis, and osteoporosis.	false
+279485a487d1297c432e4864b5e47bfd6046d446	The following variables were selected for correlation with scleral hyaline plaque: sex, age, age range, iris color, ethnicity, presence of cataract, moderate to high myopia, @DISEASE$ (AMD), diabetes mellitus, systemic arterial @PHENOTYPICFEATURE$, degenerative arthritis, and osteoporosis.	false
+01d25e80ad38ad721c5af986d847523b488cabdb	Neurological disorders (Alzheimer's disease, vascular and mixed @PHENOTYPICFEATURE$) and visual loss (cataract, @DISEASE$, glaucoma, and diabetic retinopathy) are among the most common conditions that afflict people of at least 65?years of age.	false
+8588b3b9f12ba5da3ad49829c27826e76ff17b9f	Discovery of carboxyethylpyrroles (CEPs): critical insights into @DISEASE$, @PHENOTYPICFEATURE$, cancer, and wound healing from basic research on the chemistry of oxidized phospholipids.	false
+1ec20e7713c6a8548ba2be719b11e4e07b6f9033	By adjusting for age, gender, race, systolic and diastolic blood pressure, @PHENOTYPICFEATURE$ status, fasting glucose, triglyceride, low-density lipoprotein cholesterol, cigarette smoking, pack years of smoking, and C-reactive protein, the presence of early @DISEASE$ was associated with an increased risk of incident CHD (hazard ratio 1.57; 95% confidence interval, 1.17-2.22).	false
+6b41e519a937777a9eeeafa25c76844ff278d8af	@PHENOTYPICFEATURE$ and polymorphisms in the cholesterol exporter ABCA1 are linked to @DISEASE$ (AMD).	false
+1da32eb3220e0558ccfd7d55fb900c9ce6aaa713	@PHENOTYPICFEATURE$ and polymorphisms in the cholesterol exporter ABCA1 are linked to age-related macular degeneration (@DISEASE$).	false
+28ef8b9660e4fcda76130a2b3708aa824019320b	Basic research, exploring the hypothesis that 2-(?-carboxyethyl)pyrrole (CEP) modifications of proteins are generated nonenzymatically in vivo is delivering a bonanza of molecular mechanistic insights into @DISEASE$, @PHENOTYPICFEATURE$, cancer, and wound healing.	false
+120adfc0ed2ea48b747015f8870944780ff9b291	This review article will focus on multiple sclerosis, spinal cord injury, @PHENOTYPICFEATURE$, glaucoma, retinitis pigmentosa and @DISEASE$.	false
+2fd8c0dcde8b0a6798434b22fbea565901bfcb1f	This brief commentary lists several of the many important recent studies of adverse health effects associated with low sun exposure, including some specific cancers, multiple sclerosis, diabetes, cardiovascular disease, @PHENOTYPICFEATURE$, Alzheimer's disease, and @DISEASE$.	false
+40eac248f6b6fd97483f74ecefad50f64dc4515e	We present a case of acquired @DISEASE$ caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes).	false
+8909ba5cb8c35cba7df036599aa5a50e12dd9bcb	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (@DISEASE$), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	false
+f049c97c8ffde88fd164c4fd733d34304c3ed5da	To quantify the regional and global @PHENOTYPICFEATURE$ rates and assess acceleration rates in healthy controls, subjects with mild cognitive impairment (MCI), and subjects with mild @DISEASE$ (AD).	false
+8923010d294082f972d090daacc2eda85753a6be	To quantify the regional and global cerebral atrophy rates and assess acceleration rates in healthy controls, subjects with mild @PHENOTYPICFEATURE$ (MCI), and subjects with mild @DISEASE$ (AD).	false
+eb666c22eca0c2c67866d3b4572a4183c4dbe6d8	Association of total tau and phosphorylated tau 181 protein levels in cerebrospinal fluid with cerebral atrophy in mild @PHENOTYPICFEATURE$ and @DISEASE$.	false
+97e4d05dcdc095c9dfe32a0285c4c97fc1385a26	Association of total tau and phosphorylated tau 181 protein levels in cerebrospinal fluid with @PHENOTYPICFEATURE$ in mild cognitive impairment and @DISEASE$.	false
+209fae266ed09855694e518f5fdfd02ee5c9cd63	@DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+230959f0a2c6a9ac403d261e873fbdd60657b78c	@PHENOTYPICFEATURE$ in mild cognitive impairment and @DISEASE$: rates and acceleration.	false
+096bc72860eec04848fa81294daf782153f35ccd	Cerebral atrophy in mild @PHENOTYPICFEATURE$ and @DISEASE$: rates and acceleration.	false
+9444755516d7389814677d5408ee1909c53c6031	To assess how amyloid deposition, glucose hypometabolism, and @PHENOTYPICFEATURE$ affect neuropsychological performance in patients with @DISEASE$ (AD) dementia, patients with mild cognitive impairment (MCI), and controls over time.	false
+a790d9c05c871e18212248e0df392c6d6661046d	To assess how amyloid deposition, glucose hypometabolism, and cerebral atrophy affect neuropsychological performance in patients with @DISEASE$ (AD) dementia, patients with mild @PHENOTYPICFEATURE$ (MCI), and controls over time.	false
+de539d95522404faf95933920cdef46e4bf58c6d	@PHENOTYPICFEATURE$ and signs in @DISEASE$: prevalence and correlation with the first symptom.	false
+9cbd47d0acc90c5e85aa036fbd28fe2f02f172fb	@PHENOTYPICFEATURE$ of @DISEASE$.	false
+209fae266ed09855694e518f5fdfd02ee5c9cd63	@DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+cbc19eee192cecb47598a1db0a0e61a7680a536e	Regional and global @PHENOTYPICFEATURE$ are inevitable features of @DISEASE$ (AD).	false
+209fae266ed09855694e518f5fdfd02ee5c9cd63	@DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+7316111391b2ab02ed2cb58d6b3f1dab76049eb3	This review highlights the major factors involved in potassium homeostasis (dietary, hormonal, genetic, and physiologic influences), and discusses the major diseases and abnormalities associated with potassium imbalance including hypokalemia, @PHENOTYPICFEATURE$, hypertension, chronic kidney disease, and Gordon's syndrome, Bartter syndrome, and @DISEASE$.	false
+1f7caac53fcbd5db64fd2a5579865f170e03b58e	A case of @DISEASE$ with severe hyponatraemia and @PHENOTYPICFEATURE$.	false
+e9259fd1dcee60c4dcc052b38c9dd13d5633bc2c	Three-quarters of our tubulopathies cohort included individuals with clinical suspicion of @DISEASE$, kidney @PHENOTYPICFEATURE$ and kidney tubular acidosis.	false
+3f1af94ff4166e936442dbfab36974ca4f7de67a	Descriptions of neuroradiological imaging findings associated with @DISEASE$ are very scarce in the literature and include @PHENOTYPICFEATURE$, idiopathic intracranial hypertension and sclerochoroidal calcification.	false
+49eb7c9bb9b296ee5ef40f91612d36b2ad2ae492	There is now convincing evidence that @PHENOTYPICFEATURE$ is associated with increased bowel cancer risk, and this increased risk is apparent even among those with @DISEASE$ who are genetically predisposed to the disease.	false
+22fb5498884419399764a0d1700ff5fb44ce214e	The importance of inflammation as a mediator of the effects of @PHENOTYPICFEATURE$ is supported by the fall in CRC risk which follows sustained exposure to nonsteroidal anti-inflammatory drug such as aspirin and the abrogation of the excess CRC risk in obese patients with @DISEASE$ who were randomized to aspirin.	false
+3f79e4063f38537cb3d93191115093d5500877a8	The following case describes a patient with known @DISEASE$ (PV) that presented with signs of multiple myeloma, including @PHENOTYPICFEATURE$, anemia, and lytic lesions of the thoracic spine and skull.	false
+e706b67eaccb336cc02faf9921681740723fb239	Transient monocular @PHENOTYPICFEATURE$ in the patient with @DISEASE$ has generally been considered to be caused by retinal arteriospasm.	false
+f2082b26e06965117ccf1c0745448a45ae3a56a7	The classic BCR-ABL-negative myeloproliferative neoplasms (MPNs) which include @DISEASE$ (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are among the most frequent @PHENOTYPICFEATURE$.	false
+2dc819ba87e54e100f7c9c4d38de38549923d53e	Ocular manifestations of @DISEASE$ include occipital cortex transient ischemic attacks, transient monocular @PHENOTYPICFEATURE$, vaso-occlusive disease, and retinal hemorrhages.	false
+033846768d2f4d8af054fd0cb30ee95918a81440	We report a rare case of refractory secondary hypertension, @PHENOTYPICFEATURE$ and primary erythrocytosis as an expression of @DISEASE$ (PV) and suggest that erythrocytosis in a hypertensive renovascular occlusive disease may be primary due to underlying PV.	false
+a924e8ae40d8639a00f1cff75a7986e34d56ad8d	@DISEASE$ and artifactual @PHENOTYPICFEATURE$.	false
+fd54debb3b99ccae4fd0bf9f9502719bfd305183	@PHENOTYPICFEATURE$ and myocardial infarction among 118 patients with @DISEASE$.	false
+47bf4048a90557f10d25e679b802a469e20886d6	A patient with @DISEASE$, who presented digital arterial occlusion and episodic monocular @PHENOTYPICFEATURE$ as the first clinical signs of the disease is described.	false
+f9ec0ec5963cf6aa0c48707761c41f8060075655	We describe the case of a 64-year-old man with @DISEASE$ found to be unresponsive with @PHENOTYPICFEATURE$, hypotension, tachycardia, and hypoglycemia.	false
+06107b9e4442ae9a6f85ab85f1c846b84e8d108f	@DISEASE$ and transient monocular @PHENOTYPICFEATURE$.	false
+0f1389c6b6577e819193231ecd3249dcbc10ac47	Individuals in the fifth decade of life are likely to be affected by DISH if they are obese, have a first degree relative with either @DISEASE$ or DM, complain of lumbar or thoracic spinal @PHENOTYPICFEATURE$, and are affected by enthesopathies or tendonitis.	false
+4f41d14d663743bd7fc0e3c0a9bccc6d046068a1	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ mapping to chromosome 5q13.3-q14.1.	false
+73305e7e5f351265cb98ec5c14bcf9ec2060d02b	The authors characterized a large family with autosomal dominant @PHENOTYPICFEATURE$ (@DISEASE$) clinically and by MRI, MR spectroscopy (MRS), and SPECT.	false
+74b25947d0c304f99710d7426c0b6df7d411e956	axial @PHENOTYPICFEATURE$, the axial and overall @DISEASE$ and axial strength.	false
+ee1943ea6ebc050694aa308614b8c459644cee7c	These norms should help improve interpretation of @DISEASE$ performance in African Americans and allow for greater diagnostic accuracy in patients with early @PHENOTYPICFEATURE$.	false
+37fa51fec69af85d5c28a2eba6f3d68ae3ee72c1	The present research explored the relationship between different measures of disorders of consciousness (DOC), that is electrophysiological measures (ERP N400, event-related potentials) and clinical measures (@PHENOTYPICFEATURE$ Near Coma, CNC; Disability Rating Scale, @DISEASE$).	false
+a7bec2294cc8901f8cda718425a5ad6b69e00457	The present research explored the relationship between different measures of disorders of consciousness (DOC), that is electrophysiological measures (ERP N400, event-related potentials) and clinical measures (Coma Near @PHENOTYPICFEATURE$, CNC; Disability Rating Scale, @DISEASE$).	false
+c3c2d93a98aec6f14e0b2350997cdceafde2cfc4	But our case suggests that multiple isolated lesions indicated the presence of a congenital @DISEASE$ @PHENOTYPICFEATURE$, which was transformed to multiple DAVF's by sinus thrombosis.	false
+4ad4860830a6c8980bfbedc6ecc4869665b9ce33	Bilateral @DISEASE$ associated with an extraordinary @PHENOTYPICFEATURE$.	false
+4f2edbb8be9fcaf2d59b3fbf6ed0cbb143405dfb	@PHENOTYPICFEATURE$ status, using the Disability Rating Scale (@DISEASE$), was assessed at the time of discharge from the rehabilitation hospital.	false
+15a93b159e0dda81a5a3fce8ce3341f4701cac5f	The proposed causes include prior intradural surgery, prior trauma, tumors, @PHENOTYPICFEATURE$, nerve root avulsion, and @DISEASE$ abnormalities.	false
+4bc58940b43657b3ec8cc42d4ebe674571074e87	on to band 6q25 in a patient presenting with @DISEASE$, @PHENOTYPICFEATURE$, and other dysmorphisms.	false
+ec5633e150679c0b6571e9a2f6eefc4a3a067e54	We suggest atypical EEG patterns might be observed more frequently in patients with severe neurologic @PHENOTYPICFEATURE$, more rapidly progressive disease and longer @DISEASE$ of disease.	false
+a5b7bd5ec554999fbd142f9045a73e345d9053ed	The lower interferon production and the lower transformation reactions in MS patients could not be correlated to age, @DISEASE$ of disease, @PHENOTYPICFEATURE$, disease activity or impairment.	false
+0f75d2f610a0455c74e1b2028a43b1331e8b6fc4	The aim was to determine changes in signs of temporomandibular disorders (@DISEASE$) and in mandibular movement capacity in subjects with articulatory @PHENOTYPICFEATURE$ and in controls by re-examining a sample of 187 previously studied children from 10 to 15 years of age.	false
+bff90743b11ab057073c16474d8939eb7b0d3a41	There was no association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e453f714e57f4730e0ca64a9c0a6556b035185c4	Parameters calculated in 40 study group patients were Berlin questionnaire responses, @PHENOTYPICFEATURE$ hypopnea index (AHI), interincisor distance, Mallampati classification (MPC), neck circumference (NC), thyromental distance (TMD), NC/@DISEASE$ ratio, sternomental distance (SMD), upper lip bite test, lateral cephalometry derived gonial angle and mentohyoid distance (MHD), Muller?s manoeuvre during awake nasoendoscopy, Croft?Pringle grade of airway obstruction during DISE and effect of jaw thrust.	false
+85c4ee81deea8b8188959680bb5a532d6479674d	Parameters calculated in 40 study group patients were Berlin questionnaire responses, @PHENOTYPICFEATURE$ hypopnea index (AHI), interincisor distance, Mallampati classification (MPC), neck circumference (NC), thyromental distance (@DISEASE$), NC/TMD ratio, sternomental distance (SMD), upper lip bite test, lateral cephalometry derived gonial angle and mentohyoid distance (MHD), Muller?s manoeuvre during awake nasoendoscopy, Croft?Pringle grade of airway obstruction during DISE and effect of jaw thrust.	false
+28667f775059b7325b8807606032d193e8969959	@DISEASE$ is an anticonvulsant drug widely used against @PHENOTYPICFEATURE$ in the early 80's and PHE is an antiepileptic drug with a wide spectrum activity.	false
+073f3eb3c40ab764199ecebfc6862534a1dc9172	NPHP may be associated with @DISEASE$, tapeto-retinal degeneration, @PHENOTYPICFEATURE$, cone-shaped epiphyses, congenital oculomotor apraxia and hepatic fibrosis.	false
+ed49b42992026cf0575f951ea6142f9c990b3917	Diagnosis was established as myoclonic cerebellar dyssynergy with spastic hereditary @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5b57e2654646565ff2dab11be2a77123098b7741	Therefore, adiponectin may be useful in the treatment for @PHENOTYPICFEATURE$-related vascular @DISEASE$.	false
+54df99b4e5b62e195a6d4f11fa5e00a14f774b85	Advances in nutrition science, technology and manufacturing have largely eradicated nutrient @DISEASE$, while simultaneously facing the growing challenges of @PHENOTYPICFEATURE$, non-communicable diseases and aging.	false
+44c850dbb1231da2604e8ca6b2ae6a9f4aa4dbac	In this review, the phytoandrogens used in traditional Chinese medicine are listed, and their proven applications in the treatment of kidney yang @DISEASE$, such as sexual disorders, cancer, and @PHENOTYPICFEATURE$ and associated metabolic syndromes are presented.	false
+0788f35ad42cc4a71bd6202b5d89d183a7df592d	Alpha-mannosidosis, an inherited enzyme-@DISEASE$, caused @PHENOTYPICFEATURE$, hepatomegaly, ocular abnormalities, and neurologic dysfunction in a Persian cat.	false
+5c4576e11415b793bae0659c28125f666949ded7	Imbalances in our food can lead to @DISEASE$ or @PHENOTYPICFEATURE$ and associated metabolic disorders, increased risk of cardiovascular diseases and cancer.	false
+9b420167dd7b7caf54768972c51b7a92bdc2ea56	The importance to the community of the prevention of endemic goitre-a food-@DISEASE$ which causes feeble-mindedness, @PHENOTYPICFEATURE$-mutism, and general physical and mental degeneration from one generation to the next-and the simplicity of prevention, have only gradually been realized in the course of the past hundred years.	false
+a7f8982ab4cb3cd46228cf99a3cf82bba9a033d0	To summarize the common points, child malnutrition may be defined as a pathological state resulting from inadequate nutrition, including undernutrition (protein-energy malnutrition) due to insufficient intake of energy and other nutrients; overnutrition (overweight and @PHENOTYPICFEATURE$) due to excessive consumption of energy and other nutrients; @DISEASE$ due to insufficient intake of one or more specific nutrients such as vitamins or minerals.	false
+356120880755c915e04b522147e5789f45347624	@DISEASE$ in oculocutaneous @PHENOTYPICFEATURE$.	false
+65d72cb5f520f307f9930cada0f6d61cfa2a1e45	To report a case of @DISEASE$ in a child with oculocutaneous @PHENOTYPICFEATURE$ (OCA).	false
+57a824b53e7570d31e8de0a5beb28031b6674c99	Spontaneously Resolving Periocular @PHENOTYPICFEATURE$ and Ciliary Madarosis Following Intra-arterial Chemotherapy for @DISEASE$.	false
+61ae5e5f03bfeb28a56e2020b7abf50cafbb90c7	The aetiological factors were: congenital anomalies (coloboma iridis, aniridia, coloboma papillae, hypoplasia papillae, @PHENOTYPICFEATURE$, corneal opacities) 7, congenital cataract 4, retinal degenerations (macular degeneration, Stargardt, retinal degeneration, achromatopsia, retinal ablation) 8, retinopathy of prematurity 5, other eye disorders (uveitis chr., glaucoma, @DISEASE$, nystagmus + hypermetropia, myopia) 8, neurological/cerebral diseases (hydrocephalus, tumor, M. Recklinghausen, xanthogranuloma juvenile, meningoencephalitis, unknown) 13 cases.	false
+7ffded346dcbcf4bd08ef11ae093787a50c7ed1d	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, @DISEASE$, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+be368c99aec4543c774843e656875da6d881341f	LVP may predict severe @PHENOTYPICFEATURE$ episodes both in SX and @DISEASE$ patients.	false
+eabe77bef8d15a5761e9f6d07ffda8d74e279b5a	In acute coronary syndrome (@DISEASE$), potassium levels <3.5 mEq/L are associated with @PHENOTYPICFEATURE$.	false
+f0137792ec4535a1e70f55e98cc9a43dcfa07b0c	A case of isolated @DISEASE$ deficiency with hyporeninemic @PHENOTYPICFEATURE$.	false
+021437849854360ff4190b1d5e9d833f559f96eb	Acrocallosal syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay.	false
+5c968bbd5da51401f61e5958b9968fa2c8f2cd07	@DISEASE$ (ACLS) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, @PHENOTYPICFEATURE$, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay.	false
+50a7805a4d22cf341e8218ae974c8f74bab69266	A case of isolated @DISEASE$ deficiency with hyporeninemic @PHENOTYPICFEATURE$, presenting severe hyponatremia, is described.	false
+a340428682a941c8a4b56a325283c4d33f917bbf	We sequenced KIF7 in five suspected @DISEASE$ cases, one fetus and four patients, based on @PHENOTYPICFEATURE$ and brain anomalies.	false
+1959f573096f8897b85c728cf224733efe75777f	Patients with acute coronary syndrome (@DISEASE$) rarely manifest as recurrent syncope due to malignant @PHENOTYPICFEATURE$.	false
+dd93196173de4065f4a27156245cb8e80a589e88	Dyslipidemia and @PHENOTYPICFEATURE$ are common among patients presenting with acute coronary syndromes (ACS), and patients with @DISEASE$ and metabolic disorders are at increased risk for worse outcomes.	false
+1d62723dc56870b7d84b98ce6b45a2563fb94a2d	Dyslipidemia and @PHENOTYPICFEATURE$ are common among patients presenting with acute coronary syndromes (@DISEASE$), and patients with ACS and metabolic disorders are at increased risk for worse outcomes.	false
+aaa2479c8d6d97c9c8ee83d3a0d9999eae92f34b	The risk of prognostically unfavourable high-gradation @PHENOTYPICFEATURE$ episodes in SX and @DISEASE$ patients is the same.	false
+f2be1e219e1dff2c4e461dc4050104ada65d206d	The development of @DISEASE$ was diagnosed based on a variety of factors, including bladder pressure, @PHENOTYPICFEATURE$, hemodynamic monitoring, and clinical evaluation.	false
+d9975470ab492477607e2ee5a487ea8b1119016b	At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, @DISEASE$, Denys-Drash syndrome, hemihypertrophy, or one of the other @PHENOTYPICFEATURE$ syndromes.	false
+9eef8b875d962d9397ef2e6026b14e02b16eb8e7	We report on a patient with @DISEASE$ with accompanying tetralogy of Fallot and @PHENOTYPICFEATURE$.	false
+c67dbcc288f009f4019894eec9cbff1819c60f54	@DISEASE$ with tetralogy of Fallot and @PHENOTYPICFEATURE$.	false
+5ae89dd14d4612ee9b3443745e8dd7de8d7a0553	At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, @DISEASE$, Denys-Drash Syndrome, hemihypertrophy, or one of the other @PHENOTYPICFEATURE$ syndromes.	false
+3774f3288f39fcfb63ef8d9ddd7da210fdcc9113	A middle-aged man presented with @PHENOTYPICFEATURE$, @DISEASE$, diabetes, hypertension, and generalized melanosis.	false
+fe8c5c3726af320bd0c14267806b7906976fbc6f	Loss-of-function mutations in barttin thus cause @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7e5fcc1038f3f68756b6d5cccbeedcc1d727e7a1	Barttin mutations in antenatal @DISEASE$ with @PHENOTYPICFEATURE$.	false
+5b43eab4140e42aaa59e365d9a76f6f7ab86fc43	Molecular analysis of digenic inheritance in @DISEASE$ with @PHENOTYPICFEATURE$.	false
+1dfc32f1108d32fede8752174415ecc3f88de1d3	BSND gene mutations usually cause severe forms of antenatal @DISEASE$ and @PHENOTYPICFEATURE$ (SND).	false
+8b993be1d2d3e249fe2194377c8374d6cfc3fca7	A case of antenatal @DISEASE$ with @PHENOTYPICFEATURE$.	false
+a3b3d42b80bd840b4d55cd9cbe63d5813e1cc2e4	Bartter syndrome with @PHENOTYPICFEATURE$ (type IV @DISEASE$) is a subtype of this tubular disease, and is due to mutations in the BSND gene.	false
+256c79f85c7a0e4192d399533d99addffe1b6806	@DISEASE$ with @PHENOTYPICFEATURE$ (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene.	false
+3514797dda96043b16edd6131896d038729ed23c	Antenatal @DISEASE$ with @PHENOTYPICFEATURE$: refinement of the locus on chromosome 1p31.	false
+a64f0bdcf3c091a7cb736a235b7f72fc4102b6a6	Infantile variant of @DISEASE$ and @PHENOTYPICFEATURE$: a new autosomal recessive disorder.	false
+778d2c32b5f6ff395478c1e774507f0d95d4ea66	Mutation of BSND causes @DISEASE$ with @PHENOTYPICFEATURE$ and kidney failure.	false
+49b987c7cdfbccf4d05877906902ec08012d3fbe	Detailed histories/physical examinations (n = 47) and nerve conduction studies (n = 34) were performed in a large kindred with @DISEASE$ (CPL) in an effort to evaluate the association of @PHENOTYPICFEATURE$ and neuropathy.	false
+f2b598a5cbe546fcaaf4ef76e61022a15425ed04	The propositus, a 28-year-old woman with @DISEASE$ and cataracts, presented with a spastic-ataxic gait and lower extremity paresthesiae at age 18. Laboratory investigation revealed a type V @PHENOTYPICFEATURE$ pattern, insulin resistance, and high alpha-tocopherol levels.	false
+d16db1b5b38c3a11d1cdae3ee6d8f5eed10fa3dd	Novel subtype of @DISEASE$ with mandibular hypoplasia, sensorineural deafness and @PHENOTYPICFEATURE$ of unknown genetic origin.	false
+ed994aae2bd4b7a3cd64999edcc81dff06dc66f5	Inherited mutations in pore-forming ? subunits and accessory ? subunits of cardiac K(+) channels can perturb the atrial and ventricular action potential and cause various @PHENOTYPICFEATURE$ syndromes, including long QT syndrome, short QT syndrome, Brugada syndrome, and @DISEASE$.	false
+c0b30be38dc7a8ba263f53ebb3a9b499acaaa6c7	Mutations in the human voltage-gated potassium channel KCNQ1 are associated with predisposition to deafness and various @PHENOTYPICFEATURE$ syndromes including congenital long QT syndrome, @DISEASE$, and sudden infant death syndrome.	false
+b2bdd9ad4791181caa0206ec50e89df86cad763e	@DISEASE$ with emphasis on the @PHENOTYPICFEATURE$.	false
+50d674cbb60ade3e4d3d34677241afd3a52ddfc9	Furthermore, the growth of the @DISEASE$ Hep3B @PHENOTYPICFEATURE$ cells (ASS-positive and ADI-resistant) in mice was inhibited by treatment with rhArg-peg(5,000mw), which is active alone and is synergistic in combination with 5-fluorouracil.	false
+557a9d2e670dc1f39d40845879f8776055173a50	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, @DISEASE$, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+4f223c331d23479255227060f352eff5ea8b7760	@DISEASE$ is also associated with @PHENOTYPICFEATURE$ and many different medical diseases.	false
+625584f9cb1e5d17d32e44393836e200c6082fb2	@PHENOTYPICFEATURE$ and @DISEASE$: a rare association.	false
+f01da33edef037ab042edad54ddda272bdf47aea	Collagenoma in a child with tuberous sclerosis complex causing @DISEASE$ and thumb @PHENOTYPICFEATURE$: case report.	false
+e79e4485360719ea466e592899d086093df20606	Since 1988, @DISEASE$, angina pectoris and @PHENOTYPICFEATURE$ developed in succession.	false
+a8de24dca43a9238f4440ad7cebd8a533e9cc4f4	Atypical presentations such as weight loss, @PHENOTYPICFEATURE$, tinnitus, and @DISEASE$ may occur, especially in the elderly.	false
+9cc8597e6dd8febb25abd12ae0f8d6b866524659	Atypical presentations such as weight loss, hearing impairment, @PHENOTYPICFEATURE$, and @DISEASE$ may occur, especially in the elderly.	false
+f612b231f814932ffda39058785e119eecd19c79	There are conflicting data on the roles of @PHENOTYPICFEATURE$ and occupational factors in @DISEASE$.	false
+6535fe582e81e68c4e9deb62ca6d29cbd2089ff5	ATTRwt amyloidosis may present as a clinical triad of lumbar stenosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f918730889d05ff765fc4b6204091493cc9aba97	An evaluation of gender, @PHENOTYPICFEATURE$, age and diabetes mellitus as risk factors for @DISEASE$.	false
+10c8906da956e3c53dafa73622c861beac85fa30	Prevalence of smoking, @PHENOTYPICFEATURE$, diabetes mellitus, and thyroid disease in patients with @DISEASE$.	false
+62e47a459bdbb5d5eddec53acb7856bd3a7bc9d6	Association of @PHENOTYPICFEATURE$, gender, age and occupation with @DISEASE$.	false
+354998260f300d7ce8a37904b88e5143e5cc386d	In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated hypogonadotropic hypogonadism, @DISEASE$, @PHENOTYPICFEATURE$, eye anomalies, and cardiac malformations.	false
+d0af9175ea456a1c23c924577d06873ff021729f	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), @DISEASE$ (CDI) and deafness (D).	false
+1dc59ef47ed8b5702a9c468e0296acf14b84e927	10q26.1 Microdeletion: Redefining the critical regions for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f8d11c694798983d280e5117138c7a306dabddde	Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, @DISEASE$, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and @PHENOTYPICFEATURE$ in boys.	false
+3e527f611591d1d079c95fa336a3bfd3c78144e0	Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, @DISEASE$, severe mental retardation, developmental delay, @PHENOTYPICFEATURE$, congenital cardiac defects, and genital anomalies in boys.	false
+986c649f555e0137d048b88801ed2d4dbf02a52c	We present two sisters with @DISEASE$, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+145d8a2af19a1e8bd2acf3150703e1fbd94c2454	We present two sisters with @DISEASE$, developmental delay, marked microphthalmia, congenital cataracts, cerebral and @PHENOTYPICFEATURE$, and intracranial calcification.	false
+697e41c010a3345db58122bd91eeba46413fb864	Biallelic novel missense HHAT variant causes syndromic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d0bf09e2443e081647321e7b17e52fe33aebb551	Prenatal ultrasound demonstrated @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1b136f9d3c50612df2dd95aa186473795e1f09e8	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, @PHENOTYPICFEATURE$, @DISEASE$, renal anomalies, and mental retardation.	false
+87aa1c8524b66c8c83e17a3b96770317be5a0f2e	Genitopatellar syndrome is a recently described disorder with characteristic facies, @PHENOTYPICFEATURE$, absent patella, flexion contractures, @DISEASE$, renal anomalies, and mental retardation.	false
+5ed213a32e9575fac56557a6f0931c1f5dda7644	Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+4efdb58a317802b0b4e939fd6bf45f8fcf0441a8	It is characterised by severe mental retardation, @DISEASE$, failure to thrive, ear anomalies, preauricular tags or sinus, @PHENOTYPICFEATURE$ or high arch palate, microganathia, renal anomalies, congenital cardiac defects and genital abnormalities in males.	false
+3bf1ffdcc865d43463c71a6a6634ed93d1f58e0d	It is characterised by severe mental retardation, @DISEASE$, failure to thrive, ear anomalies, preauricular tags or sinus, cleft palate or high arch palate, microganathia, @PHENOTYPICFEATURE$, congenital cardiac defects and genital abnormalities in males.	false
+6a0e9e6170f88435b33b49d3023de318ebe46819	It is characterised by severe mental retardation, @DISEASE$, failure to thrive, ear anomalies, preauricular tags or sinus, cleft palate or high arch palate, microganathia, renal anomalies, congenital cardiac defects and @PHENOTYPICFEATURE$ in males.	false
+a9de3b5ccc3e323366cec091ec85cab7acd25f36	X-linked congenital ptosis and associated intellectual disability, short stature, @DISEASE$, @PHENOTYPICFEATURE$, digital and genital abnormalities define novel Xq25q26 duplication syndrome.	false
+b580a2c5bdbad045ff6e7b0845eb632d48e3d2aa	X-linked congenital ptosis and associated intellectual disability, short stature, @DISEASE$, cleft palate, digital and @PHENOTYPICFEATURE$ define novel Xq25q26 duplication syndrome.	false
+44215c2727774256d9ef14292f1c30d9b785a3ca	This series suggests that @PHENOTYPICFEATURE$ should be considered in the young child presenting with developmental delay with prominent motor involvement, together with cerebellar signs and/or @DISEASE$.	false
+4128d60d3cc165cffab72bf09025fa22e15480be	This series suggests that cerebellar hypoplasia should be considered in the young child presenting with developmental delay with prominent motor involvement, together with @PHENOTYPICFEATURE$ and/or @DISEASE$.	false
+c9ee49ef26301a2ba31cd1864459538a65930809	@PHENOTYPICFEATURE$, @DISEASE$, and seizure.	false
+6b81f1325a69d124b0a9ceb32c3f4734437b1ebc	In addition, a host of diseases including gastrointestinal infections, asthma, tuberculosis, multiple myeloma, @PHENOTYPICFEATURE$, hepatitis A, @DISEASE$, and lead poisoning have been linked to environmental conditions on the border.	false
+f25a24dd67d2f29708bdcdb709624aaa619abdb7	They may increase the rate of major congenital anomalies including @DISEASE$ (NTD), cause specific facial and other dysmorphic features--the "Anti Epileptic Drug Syndrome" (AEDS) and often some degree of @PHENOTYPICFEATURE$.	false
+95db729a7f858f62c2f26d2f7389a69013200ba3	They may increase the rate of major congenital anomalies including neural tube defects (@DISEASE$), cause specific facial and other dysmorphic features--the "Anti Epileptic Drug Syndrome" (AEDS) and often some degree of @PHENOTYPICFEATURE$.	false
+bdd841cb4ff4f196a1da2434d91fd8a369adf24f	No increased risk was seen for @DISEASE$, hydrocephaly, microtia, renal agenesis or severe dysgenesis, hypospadias or @PHENOTYPICFEATURE$ other than preaxial.	false
+c213262c19c4dad5634fbb3f4d909319596d9951	Partial duplication of 11q is related to several malformations like growth retardation, intellectual disability, @PHENOTYPICFEATURE$, short nose, palate defects, cardiac, urinary tract abnormalities and @DISEASE$.	false
+6faab593123854b22b96115dab79b87268c2f976	During the ten years between 1965 and 1974, 207 infants with a major congenital @PHENOTYPICFEATURE$ were born at Mill Road Maternity Hospital, Liverpool; open @DISEASE$ occurred in 92 per cent of cases.	false
+acb2cbddc6d7dbb3ab5d637d0e2537aece13b410	Significant differences (p < 0.01) between ethnic groups were exhibited by the birth prevalence of neural tube defects (@DISEASE$), cleft palate, cleft lip, oesophageal atresia/fistula, hypospadias, hip dislocation, clubfoot, @PHENOTYPICFEATURE$, and syndactyly.	false
+50a77af4c75e0facbbbba68a18cec2765db433fd	Significant differences (p < 0.01) between ethnic groups were exhibited by the birth prevalence of @DISEASE$ (NTD), cleft palate, cleft lip, oesophageal atresia/fistula, hypospadias, hip dislocation, clubfoot, @PHENOTYPICFEATURE$, and syndactyly.	false
+48275c6c2fc1ca7b0b5c1a7c48a53e4517744a7f	Meckel-Gruber syndrome (MKS), the most common monogenic cause of @DISEASE$, is an autosomal recessive disorder characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalcoele), hepatic ductal dysplasia and cysts, and @PHENOTYPICFEATURE$.	false
+e7277d766dcb202e400b7f999c07bc9892df834e	Meckel-Gruber syndrome (MKS), the most common monogenic cause of @DISEASE$, is an autosomal recessive disorder characterised by a combination of @PHENOTYPICFEATURE$ and variably associated features, including developmental anomalies of the central nervous system (typically encephalcoele), hepatic ductal dysplasia and cysts, and polydactyly.	false
+c8a232886a95d1f2314a3efd2b2e146cf35652dd	heart defects, cleft lip and palate, @DISEASE$, omphalocele and @PHENOTYPICFEATURE$.	false
+f7843de6890ef906977939de38f690b2e702ce5e	Association between severe @PHENOTYPICFEATURE$ in early pregnancy and the risk of @DISEASE$ in Northern China.	false
+09cdd56ef047109cd78e350380964b8213851d4e	The gene responsible for the @PHENOTYPICFEATURE$/arhinencephaly (Pdn/Pdn) mouse, which exhibits polysyndactyly and arhinencephaly and has a 13.2% risk of neural tube defects (@DISEASE$), has been identified as Gli3.	false
+a9d55ba23e83584866403af9d591e4369bf70bbd	The gene responsible for the @PHENOTYPICFEATURE$/arhinencephaly (Pdn/Pdn) mouse, which exhibits polysyndactyly and arhinencephaly and has a 13.2% risk of @DISEASE$ (NTD), has been identified as Gli3.	false
+525f9b206a178615a001133c08a0f7c3da07be4d	She has @PHENOTYPICFEATURE$, microcephaly, conductive hearing loss, skin @DISEASE$ and microtia.	false
+5fd88e4a3a1c233d0707cb0285d46db938783cc7	Systemic @DISEASE$ (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, @PHENOTYPICFEATURE$, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy.	false
+8d71b90ac541257e3d42f190c61b76de5ed81f08	@DISEASE$ (SPS) is characterized by @PHENOTYPICFEATURE$ and gait difficulties.	false
+55531f1926fa73ef10112779d7422d95e2e3f8f8	@DISEASE$ (SPS), a @PHENOTYPICFEATURE$?	false
+a8dccd41a1efd0c8a29133e9d14863a547d7a590	@DISEASE$ (TRMA), an autosomal recessive disorder caused by the deficiency of thiamine transporter protein, is the association of diabetes mellitus, anemia and @PHENOTYPICFEATURE$.	false
+3d57b29ebcf60058b6735c3bcf2be72e22637ffe	Thiamine-responsive megaloblastic anaemia (@DISEASE$) syndrome is an example of a rare form of monogenic diabetes coexisting with anaemia and @PHENOTYPICFEATURE$.	false
+e0d103da9564375e823a1a1b307130193fb624e1	Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent @PHENOTYPICFEATURE$ in @DISEASE$ syndrome.	false
+1c5824fe1f417740436c3c193ab0dcaf7a2c8bbc	Thiamine-responsive megaloblastic anemia (@DISEASE$) syndrome usually associated with diabetes mellitus, anemia and @PHENOTYPICFEATURE$, due to mutations in SLC19A2, encoding a thiamine transporter protein.	false
+1e44a9ff20fd5adb457217d1500b9141d78dbfc8	Fibroblasts from patients with thiamine-responsive megaloblastic anemia (@DISEASE$) syndrome with diabetes and @PHENOTYPICFEATURE$ undergo apoptotic cell death in the absence of supplemental thiamine in their cultures.	false
+976433fd7c2e2ab269bc88cc9694354af79ab009	@DISEASE$ is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and neurosensoriel @PHENOTYPICFEATURE$, responding in varying degrees to thiamine treatment.	false
+bb261adf5175cf8f899abb554f237d4f6597a841	Thiamine-responsive megaloblastic anaemia (@DISEASE$) syndrome with diabetes and @PHENOTYPICFEATURE$ was found in two patients from a Tunisian kindred.	false
+91aa62c7d48820519ddee902e36520c4c9d6d561	We report a 4-year-old girl with @DISEASE$ whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and @PHENOTYPICFEATURE$.	false
+4a9b77a6914c5a5e0b0198133df03bb8b441de68	@DISEASE$ associates megaloblastic anemia, @PHENOTYPICFEATURE$, and diabetes mellitus that begin in childhood.	false
+0b49f4bed6c32f78adfd57496e06a24f2342a3bb	To highlight the difficulties that abound in making a clinical distinction between early-onset schizophrenia (@DISEASE$) and juvenile frontal @PHENOTYPICFEATURE$ early in the course of illness.	false
+29cde268d5d59b4a7ab1e82b898e3b2f8c0d9f7c	Childhood disintegrative disorder (CDD), early onset schizophrenia (@DISEASE$), and late onset @PHENOTYPICFEATURE$ (LOA) often follow a similar course: initially, development is normal, then there is a sudden neuropsychiatric deterioration of social interaction and communication skills, which is combined with a decline in intelligence and reduction in daily activities.	false
+4a186cd5b8769c3dcf1a147463df4c442109ba08	To probe the specificity of traits that might be conceptualised as the broader phenotype of @PHENOTYPICFEATURE$, parents of subjects with autism from simplex and multiplex families as well as parents of subjects with obsessive-compulsive disorders (OCD), early onset schizophrenia (@DISEASE$) and mental retardation (MR) were assessed using the Personality Style and Disorder Inventory and the Symptom Checklist-90-Revised. Autism parents' scores were increased on several subscales (e.g.	false
+4bb7033905906ffd437183a73a7808d4c3b72b54	To probe the specificity of traits that might be conceptualised as the broader phenotype of autism, parents of subjects with @PHENOTYPICFEATURE$ from simplex and multiplex families as well as parents of subjects with obsessive-compulsive disorders (OCD), early onset schizophrenia (@DISEASE$) and mental retardation (MR) were assessed using the Personality Style and Disorder Inventory and the Symptom Checklist-90-Revised. Autism parents' scores were increased on several subscales (e.g.	false
+f94a587f2851dc64acb5ce00d410c319d6f0a703	We report an incidentally detected adrenal gland tumor diagnosed as @DISEASE$ (mature type) in 33 years old man who presented with @PHENOTYPICFEATURE$ and epigastric pain for 2 months.	false
+5351b2178b6c51e76fd3938c932f4c0c1f9c5d8d	Retroperitoneal @DISEASE$: an unusual cause for @PHENOTYPICFEATURE$.	false
+4849c2b43bcc1a803a05e7d4f3330734189e4b8d	@DISEASE$ is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.	false
+a84e1e5d0824c147ceb8a38b48dcd6b3f3d01994	@DISEASE$ (ALMS) is a very rare genetic autosomal recessive disease, characterized by early-onset severe abdominal obesity, impaired glucose tolerance or type 2 diabetes with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive retinal degeneration or retinitis pigmentosa and neurosensory hearing loss or @PHENOTYPICFEATURE$, cardiomyopathy, and other endocrine disorders.	false
+caf28ac33d18b6b72334b1128c14d1a06bdddde3	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular @DISEASE$ syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.	false
+2162dd9c059cf1b20c453e450a99de905eb7d661	Benign tumors, such as gangliogliomas and dysembryoplastic neuoepithelial tumors (DNT), as well as cortical dysplasias are frequently composed of cystic and solid parts, which may show calcification, but @DISEASE$ @PHENOTYPICFEATURE$.	false
+932b486772fb7386c063d89f8012e185bf31928d	Most strikingly, zfahr2 morphants exposed to TCDD @DISEASE$ developed @PHENOTYPICFEATURE$.	false
+91e69a27d0eb2cb36dbadb29e18ad700a4d07517	However, lymphatic channels demonstrated persistent functional and anatomic pathology, and graft @PHENOTYPICFEATURE$ @DISEASE$ fully resolved.	false
+a4693f28ef818bec1997ff464d70654e839e64b8	Pigs vaccinated with SLT-IIe(E167Q) had a reduction in the incidence of subclinical @PHENOTYPICFEATURE$ disease and @DISEASE$ developed clinical edema disease.	false
+7b8e59482501ff93a790e929c3d5d174ff56386d	Pigs vaccinated with SLT-IIe(E167Q) had a reduction in the incidence of subclinical edema disease and @DISEASE$ developed clinical @PHENOTYPICFEATURE$ disease.	false
+9027103aa05158bada5658310afe7702358d4e27	@PHENOTYPICFEATURE$ and microgenitalia in the @DISEASE$.	false
+ccf88643c587e201d52463facba0ff0d2619d114	Fibromyalgia (FM), among other chronic pain syndromes, such as chronic tension type headache and atypical face @PHENOTYPICFEATURE$, is classified as a so-called dysfunctional @DISEASE$.	false
+9637aa31626749acbc5835809c8309451b676340	Sexual @PHENOTYPICFEATURE$, especially ejaculatory pain, is a common feature of chronic prostatitis/chronic pelvic @DISEASE$ (CPPS).	false
+68e67a4e574900dcc175beee21dafa840c3aff39	Pudendal neuralgia, chronic perineal @PHENOTYPICFEATURE$, pudendal nerve block, sensory examination, neurologic examination, pain management, chronic pelvic @DISEASE$.	false
+fbf416487a6ae32d3fa0d0ba95e05de8d1a2e0e6	Post-traumatic external nasal @DISEASE$ (a trigeminal based @PHENOTYPICFEATURE$ disorder).	false
+baaffb19567f0e81ae192a4db5e7c8bc6f8a3a16	Thus, we assessed brain alterations associated with abnormal @PHENOTYPICFEATURE$ processing in patients with chronic pelvic @DISEASE$.	false
+7f4172ca52fe18bab1a570345b970ab48bda8628	IV methadone is an effective pain relieving alternative for the treatment of severe cancer @PHENOTYPICFEATURE$, especially in refractory @DISEASE$.	false
+37cbe1315744cc60fa4dfbe1d5609d87ad2dc4da	Central sensitization is a form of maladaptive neuroplasticity underlying many chronic pain disorders, including neuropathic pain, fibromyalgia, whiplash, headache, chronic pelvic @DISEASE$ and some forms of osteoarthritis, low back pain, epicondylitis, shoulder pain and cancer @PHENOTYPICFEATURE$.	false
+4e26bd379e1ae3b26cf5377fba3ffd8a86dd9259	Central sensitization is a form of maladaptive neuroplasticity underlying many chronic pain disorders, including neuropathic @PHENOTYPICFEATURE$, fibromyalgia, whiplash, headache, chronic pelvic @DISEASE$ and some forms of osteoarthritis, low back pain, epicondylitis, shoulder pain and cancer pain.	false
+f2291a970e083b490c94728644ed930bb56420af	The aetiologies of chronic penile pain include local diseases, referred pain, neuropathic @PHENOTYPICFEATURE$, psychological or psychiatric disorders and penile @DISEASE$.	false
+5fd5574b074e2e50ee5000ae834c973799d8de55	A total of 171 men diagnosed with urological chronic pelvic @DISEASE$ completed validated questionnaires, a structured genital @PHENOTYPICFEATURE$ interview, digital pain threshold testing and urological assessment.	false
+533ea693d5d09a47375ac8cef098e5c49c596423	In addition, she had a typical neuropathic @DISEASE$, including provoked pain and spontaneous @PHENOTYPICFEATURE$, whose intensity was worsened when she painted with cold colours.	false
+229df747a2e2d6ed74954a91d406c0da619b6ffb	@DISEASE$ due to a de novo @PHENOTYPICFEATURE$ at the ?2-globin gene and an inherited common ?-thalassemia deletion found in a Chinese boy.	false
+dbfebd888946244342a4c6b98aff3f1689df06ce	All children with HbH disease had microcytic @PHENOTYPICFEATURE$; children with @DISEASE$-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia.	false
+19ee52ed4a8b4fb95ab8bb3f1fa537af6c623753	All children with HbH disease had microcytic @PHENOTYPICFEATURE$; children with HbH-CS disease had the most severe anemia, and those with @DISEASE$-WS disease had the mildest anemia.	false
+8edb75f30e19e84eb60d8da18014fe90b1bb8686	Development of severe anemia during @PHENOTYPICFEATURE$ episodes in patients with hemoglobin E trait and @DISEASE$ combinations.	false
+19e80e2b329eb44426988930a864e2693eaf1838	ATR-X is characterized by severe mental retardation, mild @DISEASE$, @PHENOTYPICFEATURE$, and genital and skeletal abnormalities.	false
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	false
+4e0400f36fd757a9319a0482fe50ee0289039af5	[Contribution to the differential diagnosis of @DISEASE$-like @PHENOTYPICFEATURE$].	false
+3841f2d46b2a22f3fabbf73653cca8716b0dc7d2	No association between objective @PHENOTYPICFEATURE$ response and @DISEASE$ classification was identified by multinomial logistic regression.	false
+be5dfd3f13c0cf8656c80cf3797b6c37ea7415c0	Meanwhile, the prophylactic administration of @DISEASE$ could more efficiently inhibit the growth of S180 @PHENOTYPICFEATURE$ than direct administration of EPS.	false
+2eca2e0a8ed45d942211898bb53a9698e67b7f31	Meanwhile, the prophylactic administration of EPS could more efficiently inhibit the growth of S180 @PHENOTYPICFEATURE$ than direct administration of @DISEASE$.	false
+a65057db4c837508b2ca331d39788885bdf47834	The histological diagnosis was that of @DISEASE$-myoepithelial @PHENOTYPICFEATURE$ (adenomyoepithelioma).	false
+60fc9ebc091d3801389401e7eb684d772063d016	We describe a patient with four types of tardive and persistent @DISEASE$ such as dystonia, dyskinesia, choreatic movement and @PHENOTYPICFEATURE$, induced by haloperidol.	false
+a3da671fe53351385dfcc82918488fdae0758c17	Besides @PHENOTYPICFEATURE$ and long-term exposure to bioincompatibleperitoneal dialysis solutions, a different second hit or several additional hits could be incorporated into an experimental model of @DISEASE$.	false
+35be6a3df536954a8d98b558529c59047f1968a8	[Diagnosis and therapy of @DISEASE$ @PHENOTYPICFEATURE$].	false
+b715f50279440d78d8a3bfab60cb4a9bbb689e15	The authors studied G.C.P.G. in a series of 173 patients amongst 894 with @DISEASE$ type @PHENOTYPICFEATURE$.	false
+1e7186cc3a34feff3eae10396364dd350d50735c	Spondylo-@DISEASE$-metaphyseal dysplasia is a rare @PHENOTYPICFEATURE$ showing radiographic abnormalities in the epiphyses and metaphyses of the long and short tubular bones, and in the spine.	false
+6453ecb89e1f8c008f11bb3cf82020484946f601	@DISEASE$-oesophageal cancer with special reference to @PHENOTYPICFEATURE$ of the post cricoid region.	false
+b89d5474c0a3b37f8dc11b4bebd373e15bcf9d29	Monoclonal IgM anti-myelin-associated glycoprotein (MAG) antibody-related peripheral neuropathy (@DISEASE$) is predominantly a demyelinating sensory neuropathy with @PHENOTYPICFEATURE$ and distal paresthesia.	false
+0cce0a1ed5273c02ec7a3aba3db5e99638432799	@DISEASE$ is an autosomal recessive syndrome characterised by prenatal @PHENOTYPICFEATURE$, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema.	false
+8ba080b961644c4f824f6759fd87cc0393594352	We report on a patient with @DISEASE$ manifesting intrauterine and postpartum @PHENOTYPICFEATURE$, accelerated osseous maturation, dolichocephaly, highly arched palate, large, low-set ears, cryptorchidism, delayed neuropsychological development, hypotonia, adema, contractures of the hands and feet, a single a transverse palmar crease, and tapering digits.	false
+01d10a2e4a01dc8a49e17fb872582a144aec833c	@PHENOTYPICFEATURE$ @DISEASE$ cellular and humoral immunity.	false
+a6668d2d32ee570dd198adddfdd44da367be2519	Cleft lip/palate-oligodontia-@PHENOTYPICFEATURE$-hair @DISEASE$, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.	false
+8ed0c726bfb49c2fd9e233afdf74d0ced08bcdd5	The presentation of hyponatremia, largely related to cerebral dysfunction, can include severe signs like @DISEASE$ mental status and @PHENOTYPICFEATURE$.	false
+13bf279ec5b14dbe77592fd8f7ff815f2066e0ff	The present study examines the impact of cataract on visual @PHENOTYPICFEATURE$ (VD) and how cataract surgery @DISEASE$ VD.	false
+fae77bde3f0129dba274bb3e40fa05cf4a48ccb0	Late complications may include speech abnormalities, @PHENOTYPICFEATURE$, cognitive impairment, growth delay, bone @DISEASE$ and ovarian failure.	false
+14e84c76eb552b3a83e4ad31ecdd2b616b5220fc	Five months post-BMT, he developed neurological symptoms including sudden mental status @DISEASE$, @PHENOTYPICFEATURE$, facial nerve palsy, and acute paraplegia.	false
+ddbb3dac46f8ec97f8b778a490dafee1e713607a	An 18-year-old male presented with @DISEASE$ mental status and @PHENOTYPICFEATURE$, complicated by respiratory failure.	false
+b58819081a08043d99a28f81c194a57f19af5957	Nuclear ?-thalassemia/@PHENOTYPICFEATURE$ X-linked (ATRX) loss and alternative lengthening of telomeres (@DISEASE$) are linked in distinct malignancies.	false
+81185c02b09478c138328091217d8f7e8fe4b3cb	A 53-year-old woman with rapidly progressive @DISEASE$ mental status and @PHENOTYPICFEATURE$.	false
+f3609120c22b3c92cf5856310f146cedfee2b6b5	We describe a case of diffuse leukoencephalopthy in a young male who presented with @DISEASE$ mental status, @PHENOTYPICFEATURE$, and blurred vision.	false
+64a7dd55333996541d5f103deac280909337da9f	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, @DISEASE$, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+0bc0f31a45f8a363c9da89c14f5c417d89cb2d12	By restricting surveillance to pernicious anaemia patients, reduction of @DISEASE$ and cost per @PHENOTYPICFEATURE$ to 13.8 and ?2139 may be obtained still detecting 74% of neoplasias.	false
+6555f243ce01eed343804e1487699655b68a585e	The number of 4-year-surveillance endoscopies needed to be performed to detect one gastric @PHENOTYPICFEATURE$ (@DISEASE$) was calculated.	false
+cefe34442231e10a57ebcd86a75ffb6199c299e9	Our study assesses FIT accuracy, number needed to scope (@DISEASE$) and cost to detect a CRC and an advanced @PHENOTYPICFEATURE$ (AN) in this setting.	false
+4ce412f4fe1ee2ff094cd964b7c4df0db40e7f06	Video-EEG in a family of three patients with slow development and @DISEASE$ demonstrated @PHENOTYPICFEATURE$ associated with 3-Hz generalized spike-and-wave discharges.	false
+35bd28d333e3bd2ed1f2f0d7cbce093b9f1a9c1d	These hematological diseases include - but are not limited to - sickle cell disease (SCD), thalassemia, paroxysmal nocturnal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0b0d1e879a6bb5a68ea6bc59bcc0525da3d10fce	For some forms of @PHENOTYPICFEATURE$, @DISEASE$ and color blindness, the culprits are single point mutations to cysteine.	false
+b023e47771f02baaddb96e82b43421f33cb7184b	@DISEASE$ is the most common @PHENOTYPICFEATURE$ in children.	false
+11978680dc44f0445e46dd375b028fa628608d96	@DISEASE$ is the most frequent form of @PHENOTYPICFEATURE$.	false
+c30aaf78305fc2ae32ffd96cae07850007fb02c6	@DISEASE$ is the most common form of @PHENOTYPICFEATURE$.	false
+85055f3b995d939b35cd60fd6c8ff9c4ed4ad366	@DISEASE$ is the most common human @PHENOTYPICFEATURE$.	false
+cb4b6b706379f86485554188cbd03c64a3b5b005	@DISEASE$ is the most common form of @PHENOTYPICFEATURE$ in human beings, affecting more than 250,000 individuals worldwide.	false
+62a45f61f5fb5ea6ff1c5133c8ce6c05f305b52c	@DISEASE$ is a rare genetic disease representing the most common form of @PHENOTYPICFEATURE$.	false
+2867016cddd27de3f27f3c2663e01a77d01b93c0	@DISEASE$ is one of the most common forms of @PHENOTYPICFEATURE$.	false
+7097e4490112396c107542bf272ad6afc17f26bb	@DISEASE$ is the most common @PHENOTYPICFEATURE$.	false
+b98852235697545bae7bc2aaa2c25ecad535bd0f	@DISEASE$ is the most common form of @PHENOTYPICFEATURE$ in humans.	false
+2cea738cd8f43d3f993e8e5d320d83f5475c89f5	[DNA diagnosis for @PHENOTYPICFEATURE$, possibility of prenatal diagnosis for @DISEASE$].	false
+b2129c39c48ed7893aaf5df2d730454df4b4fa77	Acute reversible cardiomyopathy and @PHENOTYPICFEATURE$ in a child with acute @DISEASE$.	false
+6c3cdb9a9882f3cfab91e6671cf71446637f0ac4	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, @PHENOTYPICFEATURE$ and acute pulmonary edema, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+35cbd19562060c832f54b70120a953a2a03af11c	She was doing well until she developed @DISEASE$ accompanied by severe metabolic acidosis, hypoglycemia, @PHENOTYPICFEATURE$, and hypokalemia.	false
+8b007ddf150b3feef6d4f60a332c3d63a8720d6e	An acute reversible cardiomyopathy and @PHENOTYPICFEATURE$ in association with acute @DISEASE$ is rarely reported, particularly in children.	false
+6d6a8e85cfe3a95d025683f8b36888423abb3e0f	Pituitary apoplexy, @DISEASE$, myxedema coma, thyroid storm, acute hypercalcemia and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+e475628234cb53d6a6f16969557d67caaf74b9ac	These findings, together with the normal remaining pituitary function, led us to conclude that this patient had isolated ACTH deficiency associated with congestive @PHENOTYPICFEATURE$ and acute @DISEASE$.	false
+f4523068285f66fb484641fa6f65fe817ae7512c	Cirrhosis, hepatocellular carcinoma and @PHENOTYPICFEATURE$ were the most frequent hepatic sequelae; cryoglobulinaemia and @DISEASE$ were the most frequent extrahepatic sequelae.	false
+40e3733df41de7c15e1a4613d9f985fc1bbe9ea0	A 53-year-old African-American man with relapsed @DISEASE$ developed @PHENOTYPICFEATURE$ and respiratory arrest 2 hours after an infusion of high-dose etoposide in preparation for an autologous bone marrow transplant.	false
+b07eba60886ffcf9bfa19637dbaf01ac2e3cf585	A 46-year-old woman with @DISEASE$ presented with a new onset of @PHENOTYPICFEATURE$.	false
+50b01bf7d3437c7160d28cc9d10ba5e8cc946932	@PHENOTYPICFEATURE$ and athetosis as side effects of chemotherapy with vincristine in @DISEASE$.	false
+1808d4e86cca34dd463088d778fbbebc5b34a467	Chlorambucil/prednisone-induced @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+b7d154f425acb5bd650db75279700c19081e292d	A 63-year-old woman who had undergone chemotherapy for @DISEASE$ developed progressive dysarthria and @PHENOTYPICFEATURE$.	false
+9a943945b139b23a7001c91be4a75d2170083199	The objective of this study was to examine indirect costs and workplace productivity loss (defined as an aggregate measure of absenteeism, short-term @PHENOTYPICFEATURE$, and long-term disability days) associated with @DISEASE$ (NHL) from a societal perspective in a commercially insured working-age United States population.	false
+7ee7f2fabafeb6b6d2d34714600a223b8c68afbb	This retrospective analysis evaluated the therapy outcome of 38 children with @PHENOTYPICFEATURE$ teleangiectasia or Nijmegen-breakage syndrome with acute lymphoblastic leukaemia (ALL, n = 9), @DISEASE$ (NHL, n = 28) and Hodgkin lymphoma (HL, n = 1).	false
+be8ecf75aa1ea62be267b0804b2ad738e8c499ed	A case of @DISEASE$ (Wegener's) is described in which the common presenting symptoms were hoarseness, @PHENOTYPICFEATURE$ and ocular manifestations including marked redness and congestion of both eyes.	false
+5ace87a5cfac24caf9fb019361289bd6e497bca0	The authors describe a two-year girl who presented with right @PHENOTYPICFEATURE$ and was subsequently diagnosed as @DISEASE$.	false
+f76eede01f2c91e738511e0bb8dfa314e95eedfa	This report presents a case of bilateral atraumatic rupture of the patellar ligament in a 43-year-old male with @PHENOTYPICFEATURE$, type 2 diabetes mellitus, and who was being treated with a systemic corticosteroid for autoimmune disease (@DISEASE$).	false
+58e0736bc598751e53aaa4ace5b726e96bed83d4	Prevalence of @PHENOTYPICFEATURE$ in patients with rheumatoid arthritis, @DISEASE$ (GPA, Wegener's granulomatosis), or systemic lupus erythematosus.	false
+3f32f87e5407b65ab13de1e4bfefd80f4f7a2390	Cochlear implantation in patients with bilateral @PHENOTYPICFEATURE$ caused by otitis media with @DISEASE$ (OMAAV): A report of four cases.	false
+fe75ad7c7315a21807584afd797a962ed0bf511b	The aim of the study was to evaluate the presence and spectrum of @PHENOTYPICFEATURE$ identified by cardiac magnetic resonance (CMR) in subjects in clinical remission of Churg-Strauss syndrome (CSS) and @DISEASE$ (Wegener's) (WG) with normal ECG and transthoracic echocardiography (TTE).	false
+21835644a5d5c644e2ee6c9825e387c520af1a11	Pathologic examination showed a spongiform @PHENOTYPICFEATURE$, consistent witha clinical diagnosis of Creutzfeldt-Jakob disease (@DISEASE$).	false
+a6a29b595390b9f4511bbe63dadc9697c1017c5f	Pathologic examination showed a spongiform @PHENOTYPICFEATURE$, consistent witha clinical diagnosis of @DISEASE$ (CJD).	false
+fdad8b925baab33640a1f897b3ee897562b39ae6	Partial elementary @PHENOTYPICFEATURE$ as the first symptom of @DISEASE$.	false
+452972f1f80b9c9c5492201a1dd5ae44bea5f9f3	Creutzfeldt-Jakob disease (@DISEASE$) is a transmissible spongiform @PHENOTYPICFEATURE$.	false
+81253e080db5d69ea0f65dea1f451d2a2b0c9288	@DISEASE$ (CJD) is a transmissible spongiform @PHENOTYPICFEATURE$.	false
+0a997eb887f79976672f8871a878f3e4bd20aad6	The @PHENOTYPICFEATURE$ form of @DISEASE$.	false
+ab23fe9cd203f8bb53a65888beae3bda2d0e3663	We describe a case of a patient with Creutzfeldt-Jakob disease (@DISEASE$) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of mental deterioration in the period preceding the impairment of consciousness, @PHENOTYPICFEATURE$, myoclonus and periodic EEG abnormalities.	false
+49571da818f9f1a03b5748f88a9f313b1f988284	We describe a case of a patient with Creutzfeldt-Jakob disease (@DISEASE$) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of @PHENOTYPICFEATURE$ in the period preceding the impairment of consciousness, ataxia, myoclonus and periodic EEG abnormalities.	false
+2c61a626f0843872a1f96abd079bbf70a0c05ebe	We describe a case of a patient with @DISEASE$ (CJD) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of mental deterioration in the period preceding the impairment of consciousness, @PHENOTYPICFEATURE$, myoclonus and periodic EEG abnormalities.	false
+45fad15e4c07aecd7175b62c4b40928aa2a19a53	We describe a case of a patient with @DISEASE$ (CJD) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of @PHENOTYPICFEATURE$ in the period preceding the impairment of consciousness, ataxia, myoclonus and periodic EEG abnormalities.	false
+8b60ee30957803e9f517994f1613f980fa23d0f8	@DISEASE$ (CJD) is a rare prion disease characterized by a spongiform @PHENOTYPICFEATURE$ in humans.	false
+33f747ae7e625b26811e7665e393b02150f31625	Creutzfeldt-Jakob disease (@DISEASE$) is a rare prion disease characterized by a spongiform @PHENOTYPICFEATURE$ in humans.	false
+46f2d59015bdcc6c88100db91d7f026be0e28b8f	@DISEASE$: subacute spongiform viral @PHENOTYPICFEATURE$.	false
+4a98fb7c7984b743535e441ba467f4d9ab167cbb	@DISEASE$ (CJD) is a subacute spongiform @PHENOTYPICFEATURE$.	false
+49f0f3263491e39a15a589e81afd8def148f2dd5	Creutzfeldt-Jakob disease (@DISEASE$) is a subacute spongiform @PHENOTYPICFEATURE$.	false
+bd1ba4b57a2f42d47050b3844391ce83277b3fe6	@DISEASE$ presenting with @PHENOTYPICFEATURE$, rigidity, and hyperekplexia.	false
+aeafe6ad4d01241af16017197cacc15bc8afe0e0	Pellagra @PHENOTYPICFEATURE$ as a differential diagnosis for @DISEASE$.	false
+88eae6f908d3c6feee21b20fb339b6dbd2ed391f	We describe respiratory chain complex IV deficiency (@DISEASE$) in a female infant with a neonatal rapidly progressive fatal course characterized by @PHENOTYPICFEATURE$, encephalopathy, persistent lactic acidosis, and hypertrophic cardiomyopathy.	false
+ed37cf8cb4a333f1a7070e8368421682a3624daf	The MD diet reproduced most of the deleterious effects of @DISEASE$ feeding, including @PHENOTYPICFEATURE$, hepatocellular injury, oxidative stress, inflammation, and fibrosis, whereas CD feeding was mainly responsible for steatosis, characterized by triglycerides and free fatty acids accumulation.	false
+fa8d6e62cfc3188c1d396e03769b065e2834de4f	Multicentric Castleman disease (@DISEASE$) is a rare nonmalignant lymphoproliferative disorder presenting systemic symptoms such as fever, night sweats, fatigue, @PHENOTYPICFEATURE$, effusions, and multifocal lymphadenopathy.	false
+80ce90461a1d433ab0e23aa9b6fbbe5ff059177a	Macular corneal dystrophy (@DISEASE$; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities in the cornea result in bilateral @PHENOTYPICFEATURE$, eventually necessitating corneal transplantation.	false
+d55334e558ef418ac97fa1335fa534b834e6baac	Patients with UCD are usually asymptomatic; however, those with @DISEASE$ usually develop fever, @PHENOTYPICFEATURE$, and peripheral lymphadenopathy.	false
+8b72dd6b882bb855d008d36cacd75a6dc4cc81c3	A 51-year-old woman was admitted to a local hospital because of pneumonia, and received a diagnosis of cervical lymphadenopathy, @PHENOTYPICFEATURE$, and hyperimmunoglobulinemia with suspected multicentric Castleman's disease (@DISEASE$).	false
+e3e037c8151b6fe0fb536c5d8d970d87b285bab1	microduplication associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+96ef2e585421a7418c5c49587bd78317dc8a4616	22q11.2 microduplication in two patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1d5ce0f6d7819c763584aac5db1e61cbe198d661	Patients with @DISEASE$, with or without augmentation, may develop serious @PHENOTYPICFEATURE$.	false
+a146fe9294797a722cbff991a7f0ab4fe336d9fb	microduplication syndrome, in two unrelated cases with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0801d438dd8bdd70969ac6993cf126b7fc74d0e4	Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, @PHENOTYPICFEATURE$, @DISEASE$, omphalocele, and neural tube defects.	false
+1265c0a8b23dff45870962b7ffe35326d2414edf	Study aims included (1) documenting rates of paediatric parenting stress; (2) identifying associated sociodemographic predictors of parenting stress; and (3) comparing previously published rates of parenting stress to those within other paediatric chronic conditions, including cancer, type 1 diabetes, @PHENOTYPICFEATURE$, sickle cell disease, @DISEASE$.	false
+6e4e521fb6f344b4bce0a5d45128d0deb4d2ae72	We describe three siblings with @DISEASE$, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, @PHENOTYPICFEATURE$, and microcephaly.	false
+1cee075852c0d62d2b9bc814074c919213dfac8a	A recessive mutation in beta-IV-spectrin (SPTBN4) associates with @DISEASE$, neuropathy, and central @PHENOTYPICFEATURE$.	false
+dda4db0c7db0872f1c2e5dc010107640f1cc1f4f	@DISEASE$ in 5.7%, metabolic diseases in 4.3% and congenital cyanotic @PHENOTYPICFEATURE$ in 4.3%.	false
+db4569cc8b2058c97e031b7c6d8acecc99a9a2df	@DISEASE$, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and @PHENOTYPICFEATURE$: a new genetic syndrome?	false
+fa3c2e0277aea52454c2f5f43a4047a14d5a8fc8	This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are @PHENOTYPICFEATURE$, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, @DISEASE$ and a very limited life expectancy.	false
+884a7a013cedda1b4f818324ee0f6b356e82a2ef	Here, we investigated a boy with @DISEASE$, @PHENOTYPICFEATURE$, and neuropathy from a consanguineous Kurdish family by autozygosity mapping and whole exome sequencing.	false
+4d0137cd38870c6ca1bab0b21f264083b3d554f0	Involvement of the larynx in a @DISEASE$", unilateral aplasia of the arytenoid, @PHENOTYPICFEATURE$, and malformation of the brain--a new syndrome?	false
+35a7bf1f05c9cad16815200ae0074bc156bb1638	More patients have to be described to confirm the triad of @DISEASE$, neuropathy and @PHENOTYPICFEATURE$ as the defining symptom complex for ?IV-spectrin deficiency.	false
+2a3a03a8e615c7592add686702e8b06d965ea78c	In conclusion, various types of @DISEASE$ are associated with cardiac changes which can result in severe @PHENOTYPICFEATURE$.	false
+e29350777126fdfbbaf674d5dbfb7498b0a5b51b	The patient presented @PHENOTYPICFEATURE$, malformations of the eye and @DISEASE$.	false
+d9d78260d62aabd60297cfc81cf39b6614f706ba	The BIO 14.6 strain of hamster is a model of @DISEASE$ complicated by congestive heart failure, sodium retention, and @PHENOTYPICFEATURE$.	false
+0371e379a93b15e2ebc50884f325c3157ce24f60	Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of @DISEASE$, overgrowth, and @PHENOTYPICFEATURE$.	false
+a50e74d810ae189a999b57c5079eb915d9b8f54c	Repair of @DISEASE$ is recommended to avoid potential @PHENOTYPICFEATURE$.	false
+ad9dec62572723970cb45831801472756d5b6451	@DISEASE$ and related @PHENOTYPICFEATURE$.	false
+44de3c19ae1fd1d7edab6057fda60c0eb1642e04	According to literature data, it has been hypothesized that chronically elevated ICP in persons with @DISEASE$, and other developmental structural @PHENOTYPICFEATURE$, may induce bone remodeling.	false
+972d6291e98fbab733e98101b76021507e0139f7	Saethre-Chotzen syndrome is a common @DISEASE$ characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+bd956e5d47ea794b72b4869a219842503a3b0292	A missense mutation was detected in one Pfeiffer syndrome family in which two members had @DISEASE$ without @PHENOTYPICFEATURE$.	false
+e81206e6bf565da2add5723603f80d0446ace558	Pfeiffer syndrome is an autosomal dominant disorder classically characterized by @DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$.	false
+0797434122e1266d0cf57fef1df34e69775fe816	BGS is characterized by two major clinical abnormalities: @DISEASE$ and preaxial @PHENOTYPICFEATURE$ but not cancer development.	false
+30e790cda8852dca1332db5d37c15e55a1f82905	We report on a follow-up evaluation of a male with a phenotype including @DISEASE$, periventricular nodular heterotopia, and @PHENOTYPICFEATURE$.	false
+4ce4234ff5fd59e2e80bb8c8b4b32c31b5bc1f4a	These patients can present with symptoms of raised intracranial pressure, @PHENOTYPICFEATURE$, as well as the morphological features of @DISEASE$.	false
+152b3907482f4b423227bdf8f0f67ed8565bdc5e	Olanzapine medication was discontinued in three patients because of @DISEASE$, @PHENOTYPICFEATURE$, and raised liver enzyme activities, respectively.	false
+954c67c80657dff6d0ad6f22ff73c85e262ce91a	Seventeen years after bilateral adrenalectomy, performed for @DISEASE$, a patient presented with a newly developed @PHENOTYPICFEATURE$.	false
+fd122348699295419123c6e5323ec4faddabb38d	Apart from joint/bone related conditions, strong associations with RA (RR > 3) were found for Adverse effect medicinal and biological substance not elsewhere classified, Unspecified adverse effect drug properly administered, Idiopathic fibrosing alveolitis, Osteomyelitis, @PHENOTYPICFEATURE$, Elevated sedimentation rate, Tuberculin test reaction abnormal or positive, Anemia and @DISEASE$.	false
+2cf8efd10542575afae366a8461c365064b03196	A 64-year-old Japanese man with mild reticular shadows in both lungs developed a @PHENOTYPICFEATURE$ causing ectopic @DISEASE$.	false
+7b00b9d3f49cd4583a85ea40f55aaebbc0066a09	To our knowledge, this is the second case described in literature of @DISEASE$ caused by neuroendocrine @PHENOTYPICFEATURE$ responsive to bromocriptine.	false
+34e7443417ae8f484d1736e0f94b35a60975d4b7	This is a case of a 35-year-old woman with @DISEASE$, who presented with @PHENOTYPICFEATURE$ and jaundice.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+2db983d535465b7ca264b8e6bd186db8ce99d01f	Of 20 patients 4 presented with @PHENOTYPICFEATURE$ and 1 had @DISEASE$.	false
+c47e48d3c2bbbb1995ab70c51fba42670410200e	Reversibility of @PHENOTYPICFEATURE$ in anorexia nervosa and @DISEASE$.	false
+289e1c64f1ff314bc7d42acf0a4fafec8000a3a3	This chapter focuses on causes of hyperandrogenism in adolescents, especially adolescent girls, including disorders of steroidogenesis, @PHENOTYPICFEATURE$, @DISEASE$, tumors, and glucocorticoid resistance.	false
+00e1aa1a5ddd388dc19c5f20289dbad9f0cdba51	A 34-year-old female presented with a constellation of symptoms of @DISEASE$, including facial swelling, muscle weakness and @PHENOTYPICFEATURE$.	false
+191bb559b95a036f07d8657b527bba31e6d164c0	Penetrating keratoplasty with intraocular lens (IOL) exchange is generally recommended for eyes with pseudophakic bullous keratopathy, especially when the keratopathy is associated with uveitis, chronic @DISEASE$, or a @PHENOTYPICFEATURE$-glaucoma-hyphema syndrome.	false
+cc3f668109a5e6c5f3a8ba2a6169111d52df2645	Penetrating keratoplasty with intraocular lens (IOL) exchange is generally recommended for eyes with pseudophakic bullous keratopathy, especially when the keratopathy is associated with uveitis, chronic @DISEASE$, or a uveitis-@PHENOTYPICFEATURE$-hyphema syndrome.	false
+1c773af646500158d556576f810035ec1fadd895	To investigate the incidence of visually significant @DISEASE$ associated with the use of latanoprost in patients with @PHENOTYPICFEATURE$ after cataract surgery.	false
+5c681e07abd058310a48ddf45cdd1f1066b6ced8	To investigate the incidence of visually significant @DISEASE$ associated with the use of latanoprost in patients with glaucoma after @PHENOTYPICFEATURE$ surgery.	false
+76fd6b4369f66e8831eb01432c8af1e2256e52d9	Pseudophakic @DISEASE$ (PCME) is a common cause of @PHENOTYPICFEATURE$ after cataract surgery.	false
+df4daccbbb59e42efbcb18b8f3b74454a33994e8	Pseudophakic @DISEASE$ (PCME) is a common cause of visual impairment after @PHENOTYPICFEATURE$ surgery.	false
+887a05666112a19df99b605fa7a4c3ed88655212	@PHENOTYPICFEATURE$ and @DISEASE$ rates were low.	false
+6836b17a571834d50499b053a2c64fb08c63d84f	@DISEASE$ is the main cause of @PHENOTYPICFEATURE$.	false
+188f1a8d1a6aea3c3fea53a8ab30127f61f19d6a	Transient complete @PHENOTYPICFEATURE$ and subsequent @DISEASE$ after intracameral lidocaine injection following uneventful cataract surgery.	false
+f0089ae3677d9e2d656e8ae7ecc5642b4959b8b8	Transient complete visual loss and subsequent @DISEASE$ after intracameral lidocaine injection following uneventful @PHENOTYPICFEATURE$ surgery.	false
+0925df4003c68748e8b93bc2210b5811be793795	Two daughters of an affected mother demonstrated symptoms of stage III ADNIV, with posterior uveitis, @DISEASE$, intraocular fibrosis, retinal neovascularization, retinal degeneration, and @PHENOTYPICFEATURE$.	false
+8f115994b870f0e57df7dd0c2bb2c2db733f21e6	Two daughters of an affected mother demonstrated symptoms of stage III ADNIV, with posterior uveitis, @DISEASE$, intraocular fibrosis, retinal neovascularization, @PHENOTYPICFEATURE$, and cataract.	false
+0a04381af7c6f483ebca08b7625226448852589b	@DISEASE$ (CME) is an important cause of @PHENOTYPICFEATURE$ after cataract surgery.	false
+bea1966de969762744111c929dcc334bff32d39d	@DISEASE$ (CME) is an important cause of visual loss after @PHENOTYPICFEATURE$ surgery.	false
+6e788fb971bdfa7cdfaf120ee3f49a76cbed8cdc	Pseudophakic @DISEASE$ (PCME) remains the most common cause of poor visual outcome following @PHENOTYPICFEATURE$ surgery.	false
+72b0b29a73787c229d0a86dc5cd07bccd56321e0	Pseudophakic @DISEASE$ (PCME) remains the most common cause of @PHENOTYPICFEATURE$ outcome following cataract surgery.	false
+9ee09e1a9fcd3f4d10de4ac11b543a5ffc3b60a4	Over the course of 23 years, each twin progressed to stage III disease, showing posterior uveitis, @DISEASE$, intraocular fibrosis, early retinal neovascularization, retinal degeneration, and @PHENOTYPICFEATURE$.	false
+1b66e6e54c2db39a502f3b7f38a7cdce1a89a9e7	Over the course of 23 years, each twin progressed to stage III disease, showing posterior uveitis, @DISEASE$, intraocular fibrosis, early retinal neovascularization, @PHENOTYPICFEATURE$, and cataract.	false
+c0dd52979004205c5301505210ce62b4a89d0a68	CSR cycle length (CL) has been shown to @DISEASE$ @PHENOTYPICFEATURE$ severity and therefore may be a predictor of outcome.	false
+143bc8f64ec6e701828be811a5443ede719134b6	Elevation of maternal serum sFlt-1 in pregnancy with @DISEASE$ caused by fetal @PHENOTYPICFEATURE$.	false
+fd71013d2c072f07c7d9740f68cb13421deb4738	@DISEASE$ associated with @PHENOTYPICFEATURE$ in a pregnant woman: a case report.	false
+33df256f3d294170427be524b42af8cff6489273	In this report case, we describe a pregnant woman who suffered from @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+3d9a62ae678bef75bb081eb56ad26b3f64d9ea51	The outcome of fetal SCT can be unpredictable, with some cases with slow growth during fetal life, whereas others grow rapidly, causing multiple complications; also, some of these tumor will develop triggering fetal (preterm delivery, high-output @PHENOTYPICFEATURE$, hydrops fetalis, intrauterine death) or maternal complications (distocia, placentomegaly, maternal @DISEASE$-preeclampsia).	false
+56d5f04c692a3aaea4fa67dd0764729f5469e5e1	Height velocity (HV) is an essential component of the evaluation of @PHENOTYPICFEATURE$ as growth deceleration often reflects an underlying paediatric endocrine diagnosis (@DISEASE$).	false
+3400d1f64de2b486c16c28a647abde4360c558e5	For caregivers with children who presented to the @DISEASE$ with @PHENOTYPICFEATURE$ and CHI, video discharge instructions improved caregiver comprehension of the child's diagnosis and disease process when added to verbal and written instructions.	false
+e885ac59cbed253c915f21856e0c3e31726262b9	Records were retrospectively reviewed to determine the duration of symptoms, @PHENOTYPICFEATURE$, previous antibiotic therapy, prior PED visit, size of neck swelling, fluctuance on physical examination, white blood cell count, and results of CT and/or ultrasound obtained in the @DISEASE$.	false
+407539a1ec542ec4b66682c4717328992c30503c	Records were retrospectively reviewed to determine the duration of symptoms, @PHENOTYPICFEATURE$, previous antibiotic therapy, prior @DISEASE$ visit, size of neck swelling, fluctuance on physical examination, white blood cell count, and results of CT and/or ultrasound obtained in the PED.	false
+46f3933e39f974b1509f241768c2090fd796b8e0	Assessment of abnormal vital signs in triage is a challenge in the paediatric emergency department (@DISEASE$), since vital signs may reflect anxiety, @PHENOTYPICFEATURE$ or pain rather than the clinical deterioration of the child.	false
+6345c6192932718cc803f57891569fa56bdd5d76	To determine the availability of previous measurements at time of referral for @PHENOTYPICFEATURE$ and to determine predictors of a @DISEASE$.	false
+607c80f199b6522c21ef53e4e90e07823a315c3f	Dehydration is frequently associated with @PHENOTYPICFEATURE$ in infants younger than 8 days of age seen in a @DISEASE$.	false
+3626275b519dd23d8bca302b4dbdfc7c7edbc6dd	A retrospective study of data for 121 088 children who presented to a @DISEASE$ with abdominal pain, @PHENOTYPICFEATURE$, or respiratory complaints during a 5-year period was performed.	false
+92e4b50dc70e2d73b3b4dfe81e6ac6a8582c9078	However, careful characterization of the clinical phenotype and the correlation with the underlying molecular basis justifies the differentiation into at least four distinct disease entities: (i) the hyperprostaglandin E syndrome or antenatal variant of Bartter syndrome (HPS/aBS), which is caused by mutations in either the Na-K-2Cl cotransporter or the potassium channel of the medullary thick ascending limb of Henle's loop; (ii) the HPS/aBS with @PHENOTYPICFEATURE$ which results from inactivating mutations in the Barttin beta-subunit of the renal chloride channels; (iii) the @DISEASE$ caused by mutations in the chloride channel of the distal nephron; and (iv) Gitelman's variant of Bartter syndrome which is caused by mutations of the Na-Cl cotransporter of the distal convoluted tubule.	false
+d54a7f9fd9ac48e16e2819083030830613dad484	The patient, with renal salt loss, was thought to have @DISEASE$ due to absence of nephrocalcinosis, presence of persistent hypercalciuria and @PHENOTYPICFEATURE$, and presence of relatively mild clinical and laboratory findings, except polyuria initially.	false
+6c1966bd637e76df5eefca9b963fcf1cce7e79be	All patients with @DISEASE$-HD were operated on for HD 2 to 63 years before being diagnosed with MEN 2. All patients responding were underweight as infants and had symptoms of @PHENOTYPICFEATURE$, distention, and constipation.	false
+23c861147e07117923c809c63027a49eca760f95	Besides, 2(8.0%) patients presented with severe @PHENOTYPICFEATURE$, 1(4%) had asymptomatic hypercalcaemia and 1(4%) patient presented with headache and was diagnosed as parathyroid adenoma in the context of @DISEASE$.	false
+127db6f9bb392d2041b42b89a1e2de124e3353e3	@DISEASE$: a @PHENOTYPICFEATURE$ that may mimic lead poisoning in a child with hypotonia and seizures.	false
+3d8902659d9676f1c1e129f1f097053b09569765	@DISEASE$ (OSMD) is a rare @PHENOTYPICFEATURE$ characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones.	false
+aebbfc85391c4028acd64fe12b78ec5b6ddb2f59	Osteosclerotic metaphyseal dysplasia (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones.	false
+1321c3b66cb0487f6ca1547c4aa88964f68229fd	@DISEASE$ @PHENOTYPICFEATURE$; a review of the literature with a report of a further 187 cases.	false
+53f7874c265afc4fcc6e0c324f503ef94a430b83	Copper, selenium, and @DISEASE$ deficiency lead to endemic @PHENOTYPICFEATURE$ with characteristic clinical symptoms--the so-called spring diarrhea and endemic paresis.	false
+e4d29ae83dd90aa08982ceab86a03b5e68cc56f8	The results were less consistent in patients with @DISEASE$, @PHENOTYPICFEATURE$, and Perthes disease.	false
+c412255948b29db57587a4b77ed42842b5ab0de8	He had received blood transfusions for @DISEASE$ for 1 year and suddenly developed @PHENOTYPICFEATURE$ speech and gait disturbances.	false
+1ebacde749e5bee33ed2588ff0994e72ca1872e3	He had received blood transfusions for @DISEASE$ for 1 year and suddenly developed ataxic speech and @PHENOTYPICFEATURE$.	false
+6b5adc6e0d06ee4af73c8745d48f0431721b2535	Other patients have Miller-Dieker syndrome (@DISEASE$), which includes lissencephaly, multiple dysmorphic features, @PHENOTYPICFEATURE$ and shortened life expectancy.	false
+48bceea620e633c142c4bb132a66c899b0ee8eac	deletion in a child with multiple congenital abnormalities, @PHENOTYPICFEATURE$, pancytopenia, and @DISEASE$.	false
+f570277d539de40be4f421b213e5c58e55613241	@PHENOTYPICFEATURE$ and @DISEASE$ are associated with neurogenic abnormalities of the bladder and bowel function.	false
+def647bb1af5557fb059692acdc00e5f567804b1	Children with @DISEASE$ frequently have @PHENOTYPICFEATURE$ function.	false
+36952b0627f918767a4227b78fa4049a1c3c2b7b	The most common causes of pediatric bladder dysfunction necessitating surgical intervention are those associated with @PHENOTYPICFEATURE$/@DISEASE$, posterior urethral valves, and bladder exstrophy.	false
+b2ec610755c98e5950d46d128afacbfba39e40d1	Paraproteinemia-associated papular neutrophilic @PHENOTYPICFEATURE$ of the oral commissure in a patient with @DISEASE$.	false
+2d86b8b2d014a0089661f79079c3aac32d3e0ac1	The occurrence of horseshoe kidneys in @DISEASE$ has been suggested to be overestimated because of the concurrent prevalence of kyphotic spine in the @PHENOTYPICFEATURE$ population.	false
+97a18583a884eb211611998854eac3889aca1a6d	?-Thalassemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3b8bac86cdb7efb66a09f4939f9753ae166861be	@PHENOTYPICFEATURE$ with intracranial venous malformations in @DISEASE$.	false
+90cc631b43a6fec18e8c21f2b775418eb9138553	The areas covered include (1) neoplasms (papilloma, @PHENOTYPICFEATURE$, meningioma, lymphoma and metastases); (2) infections (bacterial, fungal and viral); (3) cysts; (4) haemorrhage; (5) congenital abnormalities (Sturge-Weber syndrome, @DISEASE$ and vascular malformations); and (6) non-infectious inflammatory disorders (xanthogranulomas, inflammatory pseudotumour, neurosarcoidosis, rheumatoid nodule and villous hypertrophy).	false
+5a3bb9487aa07e3fe8312f6a3e1ed49ae4a9df65	There was a striking improvement of symptoms, particularly in the carcinoid group (reduction of flushing in all patients and of diarrhoea in 3/5), in the patient with gastrinoma + acromegaly (regression of @PHENOTYPICFEATURE$) and in the patient with non-metastatic @DISEASE$.	false
+244be253354a52081f3e2d06305f7ba9ffef42b4	Patients with @DISEASE$ may develop extraintestinal manifestations like @PHENOTYPICFEATURE$ or primary sclerosing cholangitis or extraintestinal complications like anaemia, malabsorption or they may have to undergo surgery.	false
+56c63dbf0945b4f0e00c4fe0f92d0d3ef3beb03f	@PHENOTYPICFEATURE$ is a prominent complication of @DISEASE$ with onset on bowel symptoms.	false
+d875bc2a8a8475fea2d518f8a80bed407e367196	Acute @PHENOTYPICFEATURE$ as an extraintestinal manifestation of @DISEASE$.	false
+f81cc1f0c884b82e3dd3e7983a406c2c12d14d8f	@PHENOTYPICFEATURE$ hearing loss and @DISEASE$.	false
+636587f6697b9cec8a360469c3e4b27c4fd8f606	@PHENOTYPICFEATURE$ in the newborn of @DISEASE$ patients can be the consequence of drug therapy.	false
+3d532f9b43ce32c422bf4275766deb979f3faba3	@PHENOTYPICFEATURE$ in children with @DISEASE$: the effect of medical and surgical therapy.	false
+82fbffba3c43c7fc404efe365447f255c6edbc30	Pouchitis after restorative proctocolectomy for @DISEASE$ is usually of ill-defined etiology and is encountered with sclerosing cholangitis, bacterial @PHENOTYPICFEATURE$, and ischemia.	false
+33b809bf3481010051d91ad0b494352174f4e39f	Coding variants in TLR4 have been associated with @PHENOTYPICFEATURE$ like @DISEASE$, Crohn's disease, and rheumatoid arthritis.	false
+22d573bf32e2fe8a5c8c0a825994ebda7f499d9d	Listeria meningitis and resultant symptomatic @PHENOTYPICFEATURE$ complicating infliximab treatment for @DISEASE$.	false
+fa93bae4c4a23302b251789ab971693d1ff866ad	The etiologic significance of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c65b7adb8717d043592b042f0d7406611e9755df	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, @DISEASE$, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+74d484876653ed5ab607add86f2694d10f8a67dd	Hereditary arthroophthalmopathy (@DISEASE$) is an autosomal dominant syndrome characterized by musculoskeletal, ophthalmic and @PHENOTYPICFEATURE$.	false
+39e515312d6ab31b877747ea3c036f5a06e117fb	Macrocephaly, growth failure, translucent skin, @PHENOTYPICFEATURE$, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the @DISEASE$17q12 syndrome.	false
+f962dd4c006d3a598d7f9e39ac96635a85515071	The triad of clinical findings of AAA with @DISEASE$ are @PHENOTYPICFEATURE$, abdominal machinery bruit, and a pulsating abdominal mass.	false
+5a37af220212f1ea4db24fcc6cfb7dff26d7381b	Hypothalamic hamartoma (HH) is a congenital malformation diagnosed based on magnetic resonance imaging (MRI) and histological findings; it is often associated with central precocious puberty (@DISEASE$), gelastic seizures, abnormal behavior and @PHENOTYPICFEATURE$.	false
+7902b19ee9542732a2e2487fa199fbe5b943b7f0	Therefore, our results suggest that GE attenuates cocaine-induced @PHENOTYPICFEATURE$ and @DISEASE$ via, at least in part, GABA(A) receptor activation.	false
+617a8f7615feaa109fa3944b4d3f107af12b0cf0	The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f444bc89da2126e1ef6d395687ca8e4cea1122d4	GE-mediated attenuations on the cocaine-induced @PHENOTYPICFEATURE$ and @DISEASE$ were significantly reversed by bicuculline (0.25 or 0.5 mg/kg, i.p.), but not by SCH 50911 (1.5 or 3.0 mg/kg, i.p.).	false
+2a748a9d141aa189a7ff0257424c90beed3c7b38	We examined the effects of an NMDA antagonist, carboxypiperazinephosphonate (@DISEASE$), and a GABAergic antagonist, picrotoxin, on entorhinal tetanic responses evoked by train stimuli (10 Hz, 100 pulses) at the developmental stage (@PHENOTYPICFEATURE$ stage; 0-2) of amygdala kindling in conscious rats, to clarify the significance of facilitation in tetanic responses and the roles of NMDA and GABA receptors in the development of kindling.	false
+c93bec7a613d6c49c241c2de56f7c16e5c146375	Pretreatment with @DISEASE$ delayed moderate signs of face tremor and myoclonus and abolished severe signs of whole body tremor and @PHENOTYPICFEATURE$ activity.	false
+f9b1fae321806d88ebd7474e89718a68609e4343	Our study shows the importance of mGlu5 and mGlu1 receptors for the expression of ethanol-induced @DISEASE$ and withdrawal @PHENOTYPICFEATURE$, although mGlu5 receptors antagonist (MTEP) was more potent than the antagonist of mGlu1 receptors (EMQMCM).	false
+dbde11a26df8fbff13eb145a396421af5ffcaaa7	Here, we evaluated knockout (KO) mice lacking PSD-95 for multiple measures of sensitivity to the acute intoxicating effects of EtOH (@PHENOTYPICFEATURE$, hypothermia, sedation/hypnosis), EtOH drinking under conditions of free access and following deprivation, acquisition and long-term retention of EtOH conditioned place preference (@DISEASE$) (and lithium chloride-induced conditioned taste aversion), and intoxication-potentiating responses to NMDAR antagonism.	false
+13c78a002f9b11ced7ac3ff2b8dcd10e3c726f60	Alcohol will lead to @PHENOTYPICFEATURE$, osmotic myelinolysis, @DISEASE$ and, especially when related to malnutrition, may also cause Wernicke encephalopathy.	false
+65f13dda9e1cfe5727b707cec26b12cf995f72ec	In other @DISEASE$, including Paget's disease of the bone and cochlear otosclerosis, demineralization of the cochlea has been associated with @PHENOTYPICFEATURE$.	false
+8511b12693e60d38d32d5a1a8acdf18d0daef45e	Increased aluminum intake constitutes a risk factor for the development to @DISEASE$, @PHENOTYPICFEATURE$, cholestasis, and neurocognitive alterations.	false
+16f669391e4292b9e3079e9460744483cd010239	Two measures of kidney disease monitoring, five measures of cardiovascular disease management, four measures of @DISEASE$ and @PHENOTYPICFEATURE$ management, and one measure of drug safety were extracted from the electronic health record.	false
+4cb29dc4d17e2c316a31130628fca4c5f290970c	This review provides an overview of Wernicke encephalopathy and other ethanol-related brain changes, such as chronic @PHENOTYPICFEATURE$, @DISEASE$, osmotic demyelination syndrome, chronic hepatic encephalopathy, and acute alcohol withdrawal.	false
+1c1803decb00d8242ebc649cb408410eb93e2404	Secular trends in processes of care, @PHENOTYPICFEATURE$, @DISEASE$ management, and red blood cell transfusions.	false
+3e54f4c4b704e85eb4a6d7e71ee3492dcdedc7ac	One of the infants developed bilateral @PHENOTYPICFEATURE$ due to craniosynostosis related to the underlying @DISEASE$.	false
+6887e83480b6e93103ee3ad42e77e14b2ae00dad	Co-management was associated with monitoring for @PHENOTYPICFEATURE$ and @DISEASE$, but was not associated with lipid monitoring, differences in mean blood pressure (133/69 mmHg vs. 131/70 mmHg, p > 0.50) or blood pressure control.	false
+b1c26e86210540aa665735858ed6a7066664e3b5	@PHENOTYPICFEATURE$ and @DISEASE$ accompany chronic kidney disease (CKD), and worsen as CKD progresses.	false
+8f1970c2185f0fa51e975acc2309624db8e2c474	Familial Mediterranean fever (@DISEASE$) is a recessive, autosomal, auto-inflammatory disorder characterised by brief, recurring, self-limited episodes of fever and serositis resulting in abdominal, chest, joint and muscular @PHENOTYPICFEATURE$; it is the most common of the periodic hereditary fevers and mostly affects Mediterranean populations.	false
+012efb09e77b393fafceea6a87b7a2203d43e565	@DISEASE$ (FMF) is a recessive, autosomal, auto-inflammatory disorder characterised by brief, recurring, self-limited episodes of fever and serositis resulting in abdominal, chest, joint and muscular @PHENOTYPICFEATURE$; it is the most common of the periodic hereditary fevers and mostly affects Mediterranean populations.	false
+527d6b77a761d71e6233c65797b56e696de513b7	A 30-year-old woman with secondary systemic amyloidosis secondary to @DISEASE$ presented with painless @PHENOTYPICFEATURE$ in the right eye.	false
+3047fd53e60d178102eddb24ac5f35d2ab025671	We aimed to investigate whether the chronic autoinflammatory process in familial Mediterranean fever (FMF), which affects numerous systems, results in @PHENOTYPICFEATURE$ in pediatric patients being followed up for diagnosis of @DISEASE$ using VEMP recordings.	false
+1dbac7bc9f97f15586012a4ed802ee944ba7dea6	We aimed to investigate whether the chronic autoinflammatory process in familial Mediterranean fever (@DISEASE$), which affects numerous systems, results in @PHENOTYPICFEATURE$ in pediatric patients being followed up for diagnosis of FMF using VEMP recordings.	false
+6d1b714399d6392351e0d68bce6823d3861c579d	We aimed to investigate whether the chronic autoinflammatory process in @DISEASE$ (FMF), which affects numerous systems, results in @PHENOTYPICFEATURE$ in pediatric patients being followed up for diagnosis of FMF using VEMP recordings.	false
+9886e2f692c61fab0e64e7977b0362b532b84147	Familial Mediterranean fever (@DISEASE$) is an inherited disorder characterized by recurrent attacks of fever and abdominal, chest, and articular @PHENOTYPICFEATURE$.	false
+ab342b178397e17821232ab785827b3c83a1d147	@DISEASE$ (FMF) is an inherited disorder characterized by recurrent attacks of fever and abdominal, chest, and articular @PHENOTYPICFEATURE$.	false
+34f0d709f625aefa87fe4c15e622e58cd2149efa	Familial Mediterranean fever (@DISEASE$) is an autosomal-recessive disorder characterized by recurrent attacks of fever, with abdominal, thoracic, or articular @PHENOTYPICFEATURE$.	false
+918e027ab62d98366857d22b8a8d24f3c281a681	@DISEASE$ (FMF) is an autosomal-recessive disorder characterized by recurrent attacks of fever, with abdominal, thoracic, or articular @PHENOTYPICFEATURE$.	false
+989a4d734e0bf117560519988307984708a563d4	We describe a 19-year-old male patient with a previous diagnosis of @DISEASE$ (FMF), nephrotic syndrome and secondary amyloidosis, who presented with @PHENOTYPICFEATURE$ and leukopenia.	false
+c6a7aed6340df600b46c36dcf7af3d3152d8c437	We describe a 19-year-old male patient with a previous diagnosis of familial Mediterranean fever (@DISEASE$), nephrotic syndrome and secondary amyloidosis, who presented with @PHENOTYPICFEATURE$ and leukopenia.	false
+79b26d5727f5ab9ff019979d22516f29aa55debd	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, @DISEASE$, and glycogen storage disease type III.	false
+ff8fab30aaf290fd42fe46371ebb154f5a2a2e3d	Pop-eyelid and eyelash @PHENOTYPICFEATURE$ were observed in 8% of patients operated with @DISEASE$.	false
+fc9bb2393549f5eceee6acd423ef8aac0063a4f7	@DISEASE$ (FMF) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular @PHENOTYPICFEATURE$.	false
+40d00f90c8468167e4730df1f845a6d6af90b31c	Familial Mediterranean fever (@DISEASE$) is an autosomal recessive disease characterized by self-limiting recurrent attacks of fever and serosal inflammation, leading to abdominal, thoracic or articular @PHENOTYPICFEATURE$.	false
+04af4e871bb36353afe8bd27267a21a953e4308a	In the eyes that underwent frontalis muscle flap (@DISEASE$)-direct, there were 2 cases with moderate anteriorization of eyelid margin in extreme upgaze and all patients showed eyelash @PHENOTYPICFEATURE$ that persisted one year after surgery, but improved after 5 years.	false
+82766983785621088731492e6c3de35609db2807	Acute anuric bilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+40b7d347ab5787ab27dbaa9bc3171b1d28828b2b	Lymphoma--@PHENOTYPICFEATURE$. Listeria meningitis and septicemia in an adult with @DISEASE$.	false
+81b304510cf197133e2fdfe9900f11bc7d2c108d	@DISEASE$--@PHENOTYPICFEATURE$. Listeria meningitis and septicemia in an adult with malignant lymphoma.	false
+0e7e991b70758b34470d749acd378c890a21ceee	All patients had @DISEASE$ @PHENOTYPICFEATURE$; clinical involvement of the spinal nerves or cranial nerves suggested the diagnosis.	false
+1f1e72af82c03b938a0f1adf339c19d445ee919a	Borrelia @PHENOTYPICFEATURE$ mimicking meningeal @DISEASE$.	false
+bcaa213a2496fef7caa3a07eb553c9d7a3c55afb	Complete bilateral @PHENOTYPICFEATURE$ from leukemia and @DISEASE$.	false
+fe10d499a1160a17212fac4f890db9dc6daa1456	An 81-year-old man with central nervous system (CNS) @DISEASE$ presenting with acute, progressive ataxic @PHENOTYPICFEATURE$.	false
+d708997704ab1fbef6c242a8f6bbcf4dc42cae20	Bilateral @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+1a0f5c51d7e5026b6c8f64c949ce2b2e491bfce6	Two cases of bilateral @PHENOTYPICFEATURE$ in @DISEASE$ are reported.	false
+3807d809d44fb0572183e8991ea89eb301a70f20	A patient was initially diagnosed with right basal ganglia @DISEASE$ causing left @PHENOTYPICFEATURE$.	false
+e62f1a966cd49e2a6ed47f5cda37e6fc2b5017e1	Two cases are presented of bilateral @PHENOTYPICFEATURE$ and uremia due to pressure from nodes involved in disseminated @DISEASE$.	false
+d4557528efc9944c453346712782faeac39eeb9d	The infant also had, in addition to the usual abnormalities of @DISEASE$, depressed nasal bridge, @PHENOTYPICFEATURE$, glaucoma, megalocorneae, and blue sclerae.	false
+0233ec265161bb275f73e46f20d8ebbd3f55891c	Case 2 shows loss of sensation, @PHENOTYPICFEATURE$, and deafness, clinically similar to patients with @DISEASE$.	false
+2cde80670b0a4cd03ee6cd43a6939bfaa743da2c	Patients with @DISEASE$ (HSAN III) exhibit marked ataxia, including @PHENOTYPICFEATURE$.	false
+4e248be3b63d4977ad6d37f8305d00e18589b006	Patients with @DISEASE$ (HSAN III) exhibit marked @PHENOTYPICFEATURE$, including gait disturbances.	false
+50e2ab4f698e7f86a1fadb531142c69cd210e7d5	This review will discuss the clinical and pathological findings of the patients with familial syndrome-associated @PHENOTYPICFEATURE$: PTEN-hamartoma tumor syndrome/Cowden syndrome, familial adenomatous polyposis syndrome, Carney complex type 1, Werner syndrome, and @DISEASE$.	false
+485224da524990bb7a2b929a71b16cace8835e82	The first group, syndromic-associated @PHENOTYPICFEATURE$, includes phosphase and tensin (PTEN)-hamartoma tumor syndrome/Cowden syndrome, familial adenomatous polyposis/Gardner syndrome, Carney complex type 1, Werner syndrome, and @DISEASE$.	false
+29e1c3d15f15468a665df5ea4cb89c4330913e63	Among the first group are found syndromes characterised by a predominance of non-thyroidal @PHENOTYPICFEATURE$, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and @DISEASE$.	false
+8742432669e5c6aae09e084d4a302df6d9d2f9d1	Prenatal diagnosis of X-linked @DISEASE$ with @PHENOTYPICFEATURE$, associated with a cytologically detectable X-chromosome deletion.	false
+7e5a8293d5815edd02ea0087834da7b0c76fe4f1	In addition, a novel deletion associated with @DISEASE$ and @PHENOTYPICFEATURE$ was identified and mapped in detail.	false
+cae03314a2d86cd3a8b6c6015ee32c51c6490ca6	Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked deafness type 3 (DFN3), @PHENOTYPICFEATURE$ (MRX), and choroideremia (@DISEASE$).	false
+392146468ff29c7c2bd45e4983df8e05ead299fe	Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked deafness type 3 (DFN3), @PHENOTYPICFEATURE$ (MRX), and @DISEASE$ (CHM).	false
+a637d8eea16ad78c1a4e212da2ac5adefcdfbd6f	region and fine mapping of a deletion associated with @DISEASE$ and nonspecific @PHENOTYPICFEATURE$.	false
+bffba88d0032647af75592664b001f1f80533ce0	Our study confirms the causative effect between the Xq21 deletion in males and @DISEASE$, deafness and @PHENOTYPICFEATURE$.	false
+a22463b01b83ccf6d66a001517fd3512bfd5244c	Among these, 3 protein coding genes have already been associated with X-linked hearing loss, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+882984dfcbee51e737d168fd3e11b6a31cec8e5e	Two females were identified as carriers of @DISEASE$ while a tapeto-retinal dystrophy was ascertained in a @PHENOTYPICFEATURE$ boy.	false
+4f345f69919cb389ac01e0ef64973e15dedea58f	Syndromic @DISEASE$: sublocalization of phenotypes associated with Martin-Probst deafness @PHENOTYPICFEATURE$ syndrome.	false
+260e2aa8714d5e6d48a59dca66ecf09dc07d149c	@DISEASE$, congenital deafness and @PHENOTYPICFEATURE$ in a family with an X chromosomal deletion.	false
+e85b700c5d81485267ef0ebf68b3ddd0b740d567	We have recently identified two families in which @DISEASE$ is inherited with @PHENOTYPICFEATURE$ and deafness.	false
+6749cdacb27e096247327ebc94c4dd795ad8a50c	@PHENOTYPICFEATURE$ cases had a significantly higher frequency of @DISEASE$ genotype [odds ratio (OR) = 1.61, 95% confidence interval (CI) = 1.12, 2.32; p = 0.01] than controls.	false
+9e924d1913ccb72844f1492b077952c98e3f6c25	These patients with congenital @DISEASE$ are associated with aural atresia, ossicular chain abnormalities, severe @PHENOTYPICFEATURE$.	false
+a8c125740a16a7eed7e905d5d28db489fd439a9c	Enlarged vestibular aqueduct (EVA) syndrome is a common congenital inner @DISEASE$ characterized by a vestibular aqueduct with a diameter larger than 1.5?mm, mixed or @PHENOTYPICFEATURE$ that ranges from mild to profound, and vestibular disorders that may be present with a range from mild imbalance to episodic objective vertigo.	false
+37ce634855d0af0e53422895a75e45026c1782f1	A three-year-old boy with coloboma, heart defects, atresia of nasal choanae, retarded growth, genital abnormalities, ear defects and deafness was fitted with a bone-anchored hearing aid for severe @PHENOTYPICFEATURE$ and congenital @DISEASE$.	false
+dac7e25f58dbc15c1c6947c7b34910790c3d0e2e	Based on these diagnostic techniques, we have studied the morphological features of the membranous labyrinth in patients with progressive @PHENOTYPICFEATURE$ due to inner @DISEASE$, labyrinthitis, neuritis of VII and VIII cranial nerves, degenerative entities such as otosclerosis and M?ni?re's disease, neoplasms of the cerebellopontine angle, of the inner ear and of the middle ear (glomus tumours, acoustic neuromas, meningiomas, epidermoid tumours, arachnoid cysts and malignant neoplasms).	false
+0b701b20dbbed55f55658f53f99cc14c3f1f887a	Enlarged vestibular aqueduct (EVA) is one of the most common congenital inner @DISEASE$ and accounts for 1-12% of @PHENOTYPICFEATURE$ in children and adolescents.	false
+3f6c803b6e77ae6bf0b8e1fbfc5bf98c2138ddf3	None of the PRS group patients had middle ear or inner @DISEASE$, or @PHENOTYPICFEATURE$ in speech frequencies.	false
+90b196666e58c56a57709feaa13f6a1aa01c9ae0	To study a family with inner @DISEASE$ and @PHENOTYPICFEATURE$.	false
+82eef7fe38e96759915c3943dcac9ad459aad99a	Ten patients with severe to profound @PHENOTYPICFEATURE$ due to @DISEASE$ were enrolled, and iCT was used to confirm the right placement of electrodes.	false
+2537e3100eb7bfcf9c3c0a9e2c3d675fafcd939a	We finally discuss the diversity of clinical features of DFNB1 HI as regards severity, age of onset, inner @DISEASE$ and @PHENOTYPICFEATURE$, highlighting the areas where future research should be concentrated.	false
+d0725e585c21f7be66febfd0d95edc42e58ea238	With the positive outcomes after cochlear implantation and the improvements in technology and surgical techniques, candidacy for cochlear implantation in children has been expanding to include hearing-impaired children with significant residual hearing, severe inner @DISEASE$, multiple handicaps such as mental retardation or @PHENOTYPICFEATURE$, and auditory neuropathy.	false
+3054296ed0b2954e70644cdf319d75ca952490c9	The clinical considerations included deep mycotic infection, ulcerative herpes, systemic @PHENOTYPICFEATURE$, Mucha Haberman disease, and @DISEASE$.	false
+6fdc0d26345d5057b15f18730fd4c438a9bd6722	The EIMs that parallel intestinal inflammation (eg, peripheral @PHENOTYPICFEATURE$, @DISEASE$, erythema nodosum, and episcleritis) generally respond to infliximab.	false
+94f34d53839da1e147db34a3c93a67c87cb09aa7	These included a cutaneous purpuric @PHENOTYPICFEATURE$, orogenital ulceration, infarction of the fingertip, and @DISEASE$-like ulceration.	false
+e15b7daf2ef623c77fa81e6c43febdab8f734290	Eleven patients had primary sclerosing cholangitis, six had @DISEASE$, and 12 had @PHENOTYPICFEATURE$ or ankylosing spondylitis.	false
+58c2d5913a9b9356eea652e11ee38fa5a2b78a82	Eleven patients were initially diagnosed with erythema nodosum, nodular panniculitis, lupus erythematosus profundus, systemic @PHENOTYPICFEATURE$, dermatomyositis, or @DISEASE$.	false
+7bd9184dba0a89602569c5e1e3a63550a555c67f	[Vegetative @DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+a78d67bde582624208f9f73c92f0cd14494b7074	Peripheral @PHENOTYPICFEATURE$, erythema nodosum, and episcleritis respond to the treatment of the underlying intestinal inflammation, whereas axial arthropathy, @DISEASE$, and uveitis do not.	false
+10900fd1191f42e7025bebbec46f416c0d7a766d	There were 10 tertiary hospital transfers (5%) for burns (4), pyloric stenosis (3), intussusception (1), neonatal @PHENOTYPICFEATURE$ (1) and @DISEASE$ (1).	false
+1fa7aa9e4e89709c363a97bd00028ee183e2cba8	@DISEASE$ with simultaneous contiguous @PHENOTYPICFEATURE$.	false
+4780a5d4f95d7b0d98e060ddadcb512f23532c46	@DISEASE$ associated with IgA paraproteinaemia and ocular @PHENOTYPICFEATURE$.	false
+967edd27ab019acc973130b0550d62b7024cfc2b	The AA. describe the case of a young male patient, previously operated for pulmonary and hepatic @DISEASE$, who was unresponsive to medical treatment and died of right @PHENOTYPICFEATURE$.	false
+bf22f35cd31fe6e5393aa590a3617c3daaf9ec50	These target areas encompass a number of diseases of special concern in Alaska, such as drug-resistant Streptococcus pneumoniae infections, foodborne botulism, alveolar @DISEASE$, @PHENOTYPICFEATURE$, Helicobacter pylori infections, Haemophilus influenzae type b bacteremia and meningitis, and infections of immunocompromised persons, pregnant women and newborns, and tourists.	false
+d07feb7d9c13acf46eaca2c35cefd8824b22193e	We report a case of massive pericardial @DISEASE$ in a female patient who presented with features of congestive @PHENOTYPICFEATURE$.	false
+6024d77d8ede52ad0ed18a784481de6045dee898	Mutations in LRP2 have been shown to cause the @DISEASE$ (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with facial dysmorphism, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and @PHENOTYPICFEATURE$, although there is variability in the expression of some features.	false
+adb92a8f400040ea4f5380197ad95b4182697c15	This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, @PHENOTYPICFEATURE$, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the @DISEASE$ (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia.	false
+569dce8dab35d46f3aa00e483a90a23076201dfe	@DISEASE$ is associated with @PHENOTYPICFEATURE$, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay.	false
+23f012d7ed48e32c2a5591c6a6a91b1e3e8d2c3f	We describe a 3-year-old boy with complete @PHENOTYPICFEATURE$, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of @DISEASE$.	false
+3584180dda6c6d345ca24cc56b470bdd564d67ae	@DISEASE$ (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, @PHENOTYPICFEATURE$ (ACC), congenital diaphragmatic hernia (CDH), and omphalocele.	false
+892210cd567bb1c10db61bd7317cbfb06c6fc76c	Four children are described from three Saudi Arabian families suffering from osteopetrosis, @DISEASE$ and cerebral calcification associated clinically with @PHENOTYPICFEATURE$, stunted growth, abnormal teeth and a similar facial appearance.	false
+8a8fe0ebac2c9a088999333bffb880397c42d586	The most frequent anomalies include microcephaly, @PHENOTYPICFEATURE$, webbed neck, @DISEASE$, limb contractures, and developmental delay.	false
+54e6955ca9094b8699bb7cb4213882f70f9260b3	The most frequent anomalies include @PHENOTYPICFEATURE$, abnormal face, webbed neck, @DISEASE$, limb contractures, and developmental delay.	false
+7abf2dd79ce73a1fcdf25fbf7ae889b39823b1f5	A female infant with growth failure, @PHENOTYPICFEATURE$, hypertelorism, epicanthal folds, preauricular pit, @DISEASE$, hypotonia, and delayed development is reported.	false
+08c67479efb43f7b4a6960f812519dd9b447b623	A female infant with growth failure, microcephaly, hypertelorism, @PHENOTYPICFEATURE$, preauricular pit, @DISEASE$, hypotonia, and delayed development is reported.	false
+27414e56bf1927e16a52cccb7980b2cc9d8e2910	Here we report a patient with a congenital syndrome consisting of severe global developmental delay, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$ and liver disease with a previously unreported homozygous NM_015352.1:	false
+3a2ebf8adbe61e00bbf7442e4c975ce31fc7ad46	Here we report a patient with a congenital syndrome consisting of severe global developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive and liver disease with a previously unreported homozygous NM_015352.1:	false
+e27cccad39e7ca17afef150f03e8dd1977e00439	Cardiofacial syndrome is associated with @PHENOTYPICFEATURE$ with @DISEASE$.	false
+dfee7543e6af6fff679e104471197a233d8a02e1	flanked by segmental duplications associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+71c8bd05ea7845308a00e94b7130bdf381517a2a	Why does @DISEASE$ cause @PHENOTYPICFEATURE$?	false
+ff0b178f2149fa69f0356da0d3f14ab44ceb2779	@PHENOTYPICFEATURE$ is the most common @DISEASE$ associated with the Wolf-Parkinson-White syndrome.	false
+aa4a4c94ec0a5380ffdbbdaa9288de113d2cd05b	@PHENOTYPICFEATURE$, cleft lip and/or palate, and @DISEASE$.	false
+64a9322e5f7e312463e6fc0270c018ab1c05e410	Other associated disorders occur inconsistently and include macrocephaly, @PHENOTYPICFEATURE$, h?mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal hernia, @DISEASE$, hypertelorism, and abnormalities of the teeth, feet and eyes.	false
+7977cf71156df3b858982eb51e7616d139572bba	Other associated disorders occur inconsistently and include @PHENOTYPICFEATURE$, microcephaly, h?mihypertrophy, kyphoscoliosis, coarse facial features, genital anomalies, inguinal hernia, @DISEASE$, hypertelorism, and abnormalities of the teeth, feet and eyes.	false
+cb0e9a1adc2bcfcf8d09fb7405d8fbc5c35e4584	Patients with this chromosome anomaly have a syndrome of postnatal growth retardation, @PHENOTYPICFEATURE$, mental retardation, epicanthal folds, posteriorly angulated and malformed ears, short neck, relatively increased internipple distance, and @DISEASE$.	false
+2beb762e7145efab3f2d146c4bf1d7b9c8d3495d	Patients with this chromosome anomaly have a syndrome of postnatal growth retardation, microcephaly, mental retardation, @PHENOTYPICFEATURE$, posteriorly angulated and malformed ears, short neck, relatively increased internipple distance, and @DISEASE$.	false
+2ba5b75ceeb928ebd22aa3487a7b40394ee270a3	A review of the literature on MRI of the spine and sacroiliac joints in rheumatoid arthritis (RA), ankylosing spondylitis (AS), infectious spondylodiscitis, infection of the sacroiliac joint (SIJ), gout, @DISEASE$, nontraumatic vertebral compression fractures, insufficiency fracture of the sacrum, @PHENOTYPICFEATURE$ of the vertebral body, sarcoidosis, and Paget's disease was performed.	false
+caa92ea65aaa8238e9a10e7eb6b6e90bddf6bca7	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial @DISEASE$ (CCAL2), craniometaphyseal dysplasia (CMD), @PHENOTYPICFEATURE$, deafness and ankylosis syndrome (MRDA).	false
+6bdf0171155a75050778cdf6a29c0d1b196a9ef0	Squamous @PHENOTYPICFEATURE$ of vagina related to @DISEASE$.	false
+f5c377ebbe8ccbca36dd00dff04a4e5e89af77de	@PHENOTYPICFEATURE$ in a case of @DISEASE$ (lubag).	false
+b61dfc7ba842a8361a3853a3d98c572766c4898f	Gene loci in the X-linked recessive forms have been assigned to Xq13.1 in the @DISEASE$ syndrome and to Xq22 in X-linked @PHENOTYPICFEATURE$, dystonia, and mental retardation.	false
+b17e4098c79346752f0168faad0e7125fe34420a	The only serious neurologic conditions diagnosed were 15 cases of viral meningitis (5.2%), one shunt malfunction, one newly diagnosed @PHENOTYPICFEATURE$, one @DISEASE$ patient with newly diagnosed CNS infiltration, and one punctate hemorrhage post head trauma.	false
+c79370f8fa09bc2282f45ef6fb82a5424148d4fa	We present here a 26 years old female who presented with congestive @PHENOTYPICFEATURE$ and sudden onset paraparesis and was finally diagnosed to have right atrial mass and had extradural lesion extending from L2 to S1 which turned out to be High grade NHL-@DISEASE$.	false
+10aeb0532547fae116ef91348638139feeaf322e	Other causes were immunodeficiency (n=15, 7.3%; 12 with human immunodeficiency virus and 3 with hypogammaglobulinemia), celiac disease (n=11, 5.4%), Crohn's disease (n=11, 5.4%), small intestinal bacterial @PHENOTYPICFEATURE$ (n=11, 5.4%), hyperthyroidism (n=4, 1.9%), diabetic diarrhea (n=4, 1.9%), systemic lupus erythematosus (n=3, 1.4%), metastatic carcinoid (n=1, 0.5%) and @DISEASE$ (n=1, 0.5%).	false
+4f7171562bd170cce2771f6c0a47e4c00b479eb0	A retrospective study was conducted of 41 patients with @DISEASE$ who had partial or complete records of both clinical and pathologic features of their disease, that is, clinical observations immediately before death and pathological findings at sub-sequent post-mortem examinations.The immediate causes of death in five patients were @PHENOTYPICFEATURE$ and related conditions; in seven patients, hepatic, renal, or adrenal failure; in ten patients, hemorrhage from necrotic tumor; and in 12 patients, miscellaneous causes of death were recorded.	false
+ca6aa8e3e1befe1c9731086a1ce229250e73ee51	A case of @DISEASE$ cell leukemia with recurrent hypophosphatemia that coincided with tumor growth, and @PHENOTYPICFEATURE$ during tumor lysis is presented.	false
+81ffb69acb6ee4979c40311d793072fa5c06f778	We present a case of an 18 year old white male with @DISEASE$ who was operated on for @PHENOTYPICFEATURE$ and subsequently referred for evaluation of new onset diplopia.	false
+e93fd63933b5633fdd623f533f2395a13cd7364e	Our patient acquired the typhoidal form of @DISEASE$, which is a severe systemic illness that manifests with fevers, headaches, myalgias, @PHENOTYPICFEATURE$, diarrhea, and neurological symptoms, due to his immunocompromised state.	false
+f00abcbc81ce431be5b5a24fd9790270aeb25205	These similarities can be used in the search for and design of effective pharmacotherapy for AD, since potent therapeutic agents such as insulin, incretins, oral @PHENOTYPICFEATURE$ agents and antioxidants used in the management of DM may play a key role in the treatment of patients with @DISEASE$.	false
+5258c970aaf0b6650283bcab8b0a47d4f6b2f50f	These similarities can be used in the search for and design of effective pharmacotherapy for @DISEASE$, since potent therapeutic agents such as insulin, incretins, oral @PHENOTYPICFEATURE$ agents and antioxidants used in the management of DM may play a key role in the treatment of patients with AD.	false
+1c7b8d6c39e6df745fa12aba7d468a834a089234	Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (gamma c), 16 had adenosine deaminase (@DISEASE$) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive @PHENOTYPICFEATURE$, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type.	false
+4d28dc115c259ae4211188a32977b84e627a1395	Functional assays demonstrated that @DISEASE$ significantly inhibited @PHENOTYPICFEATURE$ cell proliferation and tumorigenesis both in vitro and in vivo with no observed side effects.	false
+6499c2217eda0fb82459ce11e3ff2f334087eb54	A 55-year-old woman was admitted to our hospital because of chest pain, @PHENOTYPICFEATURE$, and right pleural effusion that was exudative and lymphocyte-dominant with a high level of adenosine deaminase (@DISEASE$).	false
+031c4cf18228d7530a409c058954a9c3b85743e9	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (@DISEASE$), amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$ (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (MD), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+35b0738f52bcaab6702aad32a6d695c520a009a6	In an observational study of adults with incident asthma identified between 1999 and 2003 using National Veterans Affairs and Centers for Medicare and Medicaid Services encounter databases (n?=?25?975, follow-up 3.0???1.7 years), association between 13 most prevalent comorbidities (hypertension, ischemic heart disease (IHD), osteoarthritis, rheumatoid arthritis, diabetes, mental disorders, substance/drug abuse, enlarged prostate, depression, cancer, alcoholism, HIV and heart failure) and four conditions previously associated with asthma (@PHENOTYPICFEATURE$, gastroesophageal reflux disease (@DISEASE$), rhinitis and sinusitis) and mortality, hospitalizations and asthma exacerbations were assessed using multivariate regression analyses adjusted for other clinically important covariates.	false
+27581f514161f9f51dcdf40268e5239c46800cd0	These patients, however, might need longer intestinal limbs to control co-morbidities such as type 2 diabetes, lipid disorders, hypertension, @PHENOTYPICFEATURE$, and @DISEASE$ disorder.	false
+4035878e24f137b89d77de21da5e354b24adb8c4	Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like ? thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus @PHENOTYPICFEATURE$, @DISEASE$, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others.	false
+bee9bbffe85dac511bc474f76dbbb988612288fa	Few cases of surgical corrections of @PHENOTYPICFEATURE$ with @DISEASE$ have been reported up to today.	false
+a7374ae46cdfbae13582e86bd8d44168699486da	A patient with @DISEASE$ presented with @PHENOTYPICFEATURE$ secondary to intraventricular hemorrhage.	false
+eee3475536ea9a3611b30ffe27319e72098b2b15	Endoscopic third ventriculostomy was effective for the treatment of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+845055878deadd16760e759afbbaaa579315b8b9	Other associated findings seen in patients with Chiari I malformation include basilar invagination, @DISEASE$, atlantoaxial assimilation, scoliosis from an underlying syrinx, and @PHENOTYPICFEATURE$.	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	false
+7437c90c9037aaaa8acf0487c3601876488bfd90	[A case of @DISEASE$ with associated @PHENOTYPICFEATURE$].	false
+b6a6851ee54c77edc33257de626ec0bcb6172ad6	Endoscopic third ventriculostomy for @PHENOTYPICFEATURE$ in a patient with @DISEASE$: a case report.	false
+9f2dcde87e8144470044d1eac13061ad74512f65	[@DISEASE$ associated with renal agenesia and @PHENOTYPICFEATURE$ in an 11-year-old girl].	false
+dc6980032a891a1d770af4330afa1d9a11ea8aca	[Complete situs inversus viscerum with congenital @PHENOTYPICFEATURE$ & the @DISEASE$].	false
+6eca4cadafe61aff664bb0abd49924a814283ca3	Multiple abnormalities were documented radiographically and operatively, including @PHENOTYPICFEATURE$, Chiari malformation, hydromyelia, lipomeningomyelocele, tethered cord, thickened filum terminale, diastematomyelia, @DISEASE$, and thoracic hemivertebrae.	false
+509e0a45140d6a14acbf534a2d7dace359a5bf3e	Controlled randomization showed that in patients with @DISEASE$ pancreatitis, @PHENOTYPICFEATURE$ or hemorrhagic necrotizing pancreatitis can develop, with or without impacted stones, early or late in the progression of the disease, during early or delayed surgery.	false
+40f2c5aebea8e5077985ec90984d4d71bfe0740d	The clinical presentation of @DISEASE$ syndrome is variable and nonspecific, including nausea, @PHENOTYPICFEATURE$, abdominal pain, and weight loss.	false
+0b0bfa67a50cd06ecc0b451c3872a06c56cb9ecf	The clinical presentation of @DISEASE$ syndrome is variable and nonspecific, including nausea, vomiting, @PHENOTYPICFEATURE$, and weight loss.	false
+f5cc842aec841cabd01ba439ab95fc4d28f9ce7a	Superior mesenteric artery syndrome (@DISEASE$) is an uncommon cause of @PHENOTYPICFEATURE$ and weight loss due to compression of the third part of the duodenum by the superior mesenteric artery.	false
+21cb22190ef2f6237fc36c5f13c708c21e577e97	We will describe the case of a 34-year-old with cerebral palsy who presented with abdominal pain, nausea, @PHENOTYPICFEATURE$, and weight loss and was diagnosed with @DISEASE$ syndrome via CT-imaging.	false
+ed36a763388b6522687c6cf46d11213240169045	We will describe the case of a 34-year-old with cerebral palsy who presented with @PHENOTYPICFEATURE$, nausea, vomiting, and weight loss and was diagnosed with @DISEASE$ syndrome via CT-imaging.	false
+2b44a4d455ad78c523efa07b65db73103e427c1b	Patients with @DISEASE$ syndrome present with upper gastrointestinal symptoms, such as nausea, @PHENOTYPICFEATURE$, and abdominal pain.	false
+2b98a6962fe433c8a009a48ae2311866378e1bbc	Patients with @DISEASE$ syndrome present with upper gastrointestinal symptoms, such as nausea, vomiting, and @PHENOTYPICFEATURE$.	false
+2fa2c77c31a95b4b726695c2711cd6ec5ec28ab4	Superior mesenteric artery (@DISEASE$) syndrome is an infrequent cause of @PHENOTYPICFEATURE$ and weight loss due to compression of the third part of the duodenum by the SMA.	false
+dab71e04a132cf1a9fa1e03b0bf5e1160517e29b	This case underscores the importance of including congenital @DISEASE$ syndrome on the differential in young people without an obvious cause of persistent nausea, vomiting, and @PHENOTYPICFEATURE$.	false
+fda029bce9077e710293d13d8958d34616e82444	This case underscores the importance of including congenital @DISEASE$ syndrome on the differential in young people without an obvious cause of persistent nausea, @PHENOTYPICFEATURE$, and abdominal pain.	false
+77e79f9fecb7941775309b41b0d2037550dc3bb5	Superior mesenteric artery (@DISEASE$) syndrome describes vascular compression of the third portion of the duodenum and presents with nausea, postprandial vomiting, and epigastric @PHENOTYPICFEATURE$.	false
+7188f7d2c37e3b9c63392adf72b2829acb3564fd	Superior mesenteric artery (@DISEASE$) syndrome is a rare cause of @PHENOTYPICFEATURE$, nausea and vomiting that may be undiagnosed in patients presenting to the emergency department (ED).	false
+1595a129d6dec12ab4eda95e5645d10d595406fe	INTRODUCTION The superior mesenteric artery (@DISEASE$) syndrome, or Wilkie's syndrome, is a rare cause of postprandial epigastric pain, @PHENOTYPICFEATURE$ and weight loss caused by compression of the third part of the duodenum as it passes beneath the proximal superior mesenteric artery.	false
+f742782b6827b312bd12816c62acf4b59b374c57	Superior mesenteric artery (@DISEASE$) syndrome is a rare disorder, recognized as weight loss, nausea, @PHENOTYPICFEATURE$, and post-prandial pain due to compression and partial obstruction of the third portion of the duodenum by the SMA.	false
+7ce02d99b3e0b95b88c686e3eb0d8291ee4d8fdf	Locating and characterizing the @DISEASE$ gene may be an important step in understanding this group of maculopathies as well as age-related macular degeneration (AMD), a common cause of @PHENOTYPICFEATURE$ in the elderly.	false
+6f20978e4c4a574ba2b0f79ac8bda57f9623564e	Distal @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+95cd3a5db61d7cea145c9f71daa5b0b4ecab8c77	We studied 59 patients with chronic anemias associated with high-erythropoietic activity (thalassemia intermedia, @DISEASE$ type I, congenital @PHENOTYPICFEATURE$), 8 patients with low-erythropoietic activity anemias (acquired aplastic anemia, Fanconi anemia, and Diamond Blackfan anemia), and 20 healthy controls.	false
+e1ab30fd1df1ee4d96b6fc34c0969a0dc1b60a14	Lethal hydrops fetalis due to @DISEASE$ in a newborn: association of a new @PHENOTYPICFEATURE$.	false
+38d5bb074a1ce047fc2900817405d445edc79644	@DISEASE$ should be considered in the differential diagnosis of hydrops fetalis presenting with a very severe anemia and a @PHENOTYPICFEATURE$ of the great toe.	false
+785d438eb3feb10655f88095bc110867a3dab652	Distal @PHENOTYPICFEATURE$ are a well-documented though rare feature of @DISEASE$ type I, that have not been reported so far in other types.	false
+c49cc8614664ed6b91ba693e5fcdf7abf932e2c1	We describe a patient with @DISEASE$ type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal @PHENOTYPICFEATURE$.	false
+d4eaaf7a3c69d8f896633cf46f481a5ecc802a34	We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of @DISEASE$ type III with distal @PHENOTYPICFEATURE$.	false
+f3caae165f7793f3e1ed20ec91a6a8fc47a40a51	Patients presenting with anemia and distal @PHENOTYPICFEATURE$ should be further investigated for the presence of @DISEASE$.	false
+14ff6ce146a4eee1dc8caca048e43b1fd2432800	The @DISEASE$ (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and @PHENOTYPICFEATURE$.	false
+6da0f287b695699614ff78b1724bc2826a85fb03	Rather than having @DISEASE$, our patient had @PHENOTYPICFEATURE$ and undergrowth, with development that was within normal limits at 25 months of age.	false
+f5b0a3865c780e59d0362ddcba3f2467136e364b	Analysis of the published pedigrees containing such males shows that their heterozygous daughters are @DISEASE$ @PHENOTYPICFEATURE$, and have either no fragile site or very few indeed.	false
+beece10e511748a6f32e0df65f4192f0f9cf1a28	@DISEASE$ sebaceous syndrome is a member of the epidermal nevus syndromes group, and is characterized by extensive nevus sebaceous, seizures, and @PHENOTYPICFEATURE$.	false
+511cabee3d5e1f72985aa127e9935fc35e01db35	@DISEASE$ sebaceous syndrome is a member of the epidermal nevus syndromes group, and is characterized by extensive nevus sebaceous, @PHENOTYPICFEATURE$, and mental retardation.	false
+476e5aafb34f14763f04757f4203b413c56f8176	Sebaceous @DISEASE$ syndrome: a case report of a child with nevus sebaceus, mental retardation, @PHENOTYPICFEATURE$, and mucosal and ocular abnormalities.	false
+1b82860f2386cd682cf2080f780db3fd01cf20d3	Sebaceous @DISEASE$ syndrome: a case report of a child with nevus sebaceus, @PHENOTYPICFEATURE$, seizures, and mucosal and ocular abnormalities.	false
+81086250bb3efda947f54a0a881f73a86b8d1168	Linear epidermal nevus syndrome and linear sebaceus @DISEASE$ syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and @PHENOTYPICFEATURE$.	false
+80c3e5b4f0c2cd5b7c019d5cf0ef7b5185688bbd	Linear @DISEASE$ sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, @PHENOTYPICFEATURE$, and mental retardation.	false
+3945655f8618143f8f0334278118c6466647e123	Linear @DISEASE$ sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, seizures, and @PHENOTYPICFEATURE$.	false
+4cfa451215079287f18e07361b332e1ec0f071c2	Linear @DISEASE$ sebaceous syndrome (LNSS) is characterized by nevus sebaceous, mental retardation, @PHENOTYPICFEATURE$, and ocular abnormalities such as complex limbal choistoma.	false
+a72bf35a891d78cfa52db195193beab2eb017fc6	Linear @DISEASE$ sebaceous syndrome (LNSS) is characterized by nevus sebaceous, @PHENOTYPICFEATURE$, seizures, and ocular abnormalities such as complex limbal choistoma.	false
+d0713bcc1841df86d5536b5bbc7b19607638f45c	The patient with a hamartoma @DISEASE$ became @PHENOTYPICFEATURE$-free.	false
+759b27a377d7a9667e55d416361351576e2f85d7	The sebaceous @DISEASE$ syndrome is sometimes associated with hemimegalencephaly and a group of related abnormalities including ipsilateral gyral malformation, @PHENOTYPICFEATURE$, seizures, especially infantile spasms, and facial hemihypertrophy.	false
+af092fb7e9f55069c69082f1d051997721c2d0ed	The sebaceous @DISEASE$ syndrome is sometimes associated with hemimegalencephaly and a group of related abnormalities including ipsilateral gyral malformation, mental retardation, @PHENOTYPICFEATURE$, especially infantile spasms, and facial hemihypertrophy.	false
+820aa975702ce4dd56c5d4452ab022719c8d9fc2	This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear @DISEASE$ sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, @PHENOTYPICFEATURE$, and mental retardation, and often accompanied by ocular anomalies.	false
+48c7ea576c6014ad64b1512785a648dc0277fb96	This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear @DISEASE$ sebaceous syndrome (LNSS), a rare disorder including nevus sebaceous, seizures, and @PHENOTYPICFEATURE$, and often accompanied by ocular anomalies.	false
+e2e3a9f96ed274dfc50564941fcd2e3e160c542d	More than one fifth of the patients with @DISEASE$ were diagnosed with @PHENOTYPICFEATURE$.	false
+9d06fe2f931f956e9b27937372e5fad22244ed56	The major neurological manifestations of HIV infection are toxoplasmosis, cryptococcal meningitis, AIDS dementia complex, primary lymphoma, tuberculosis, @DISEASE$, herpes zoster, Bells palsy, @PHENOTYPICFEATURE$, and vacuolar myelopathy.	false
+1068c01e03812d2f56e321475848d4608acf0eef	We report a young @PHENOTYPICFEATURE$-positive patient who suffered from @DISEASE$ caused by the human John Cunningham virus and showed objective clinical improvement after adding mirtazapine to the treatment regimen, an observation that is supported by the emerging literature.	false
+6db47396b1fb20e00abf3a74f775db8582246078	This review focuses on the neuropsychiatric and neurological conditions that are most likely to be affected by advancing age-HIV-1-associated cognitive-motor disorder, @PHENOTYPICFEATURE$, @DISEASE$, primary CNS lymphoma, and risk for cerebrovascular accident.	false
+564f7e6e53ef3a739034cd15177ff9725a890530	@DISEASE$ (12 patients) is the most frequent intracranial parenchymal lesions, followed by intracranial tuberculoma (7 patients), primary central nervous system lymphoma (7 patients), intracranial cryptococcoma (4 patients), Toxoplasma @PHENOTYPICFEATURE$ (4 patients), and disseminated non-tuberculous mycobacterial infection (3 patients).	false
+97d6769d6922b258c2e015d2bb6636909c471576	PNS can be seen as encephalomyelitis, limbic encephalitis, @DISEASE$, cerebellar ataxia, brainstem @PHENOTYPICFEATURE$, and paraneoplastic cerebellar degeneration.	false
+8f9a08efddeecdd4e158927783f5879c6c0f2b71	They presented with @DISEASE$, myelopathy, intractable seizures, acute vasculitis and blindness, hemiplegia, @PHENOTYPICFEATURE$, and paraspinal lymphoma.	false
+afaba90ca1f8bc75d211245cb47ef1858cf9f996	In February 2005, the production of NTZ was suspended by Producer Firms on account of the occurrence of two serious adverse events: two patients who had been taking NTZ manifested a @DISEASE$; the patients showed @PHENOTYPICFEATURE$, initially believed to be a worsening of the pre-existing condition of MS.	false
+d4d9f826d7d3d80ea445b847dd34087bd41e977d	After initiation of combined anti-retroviral therapy (cART) and successful treatment of CNS toxoplasmosis, he developed @PHENOTYPICFEATURE$ and was subsequently diagnosed with @DISEASE$.	false
+526bcb5d54fcf0038eb3f1620dc2520259b651bd	Persons with advanced human immunodeficiency virus type one (HIV-1) infection seek medical advice for a wide range of neurological disorders including, but not limited to, @PHENOTYPICFEATURE$, toxoplasmosis, cryptococcal meningitis, cytomegalovirus retinitis @DISEASE$, lymphoma and dementia.	false
+70827097deaf19b4c83437d33067f7179df108d3	All four had the Hyper IgM syndrome, lymphadenopathy and @PHENOTYPICFEATURE$, and one also had @DISEASE$.	false
+affeae4172672819b64af8d3e25116d0258ecfb5	To determine the ocular consequences of a dominant-negative mutation in the p85? subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of @DISEASE$, a syndrome associated with @PHENOTYPICFEATURE$, lipodystrophy, diabetes, and Rieger anomaly in humans.	false
+c3dcd765b802d27e6af0aa8899013b429a46d139	This six-year-old girl shows nearly all the typical manifestations reported in patients with the @DISEASE$, including lipoatrophy, minor facial anomalies, Rieger anomaly, and @PHENOTYPICFEATURE$.	false
+b0d1f3162003195bfd600d236d5c898e971a4696	We describe a mother and her son with @PHENOTYPICFEATURE$, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the @DISEASE$.	false
+b6f23fa023c83f397e1fc3431dcdf404b0ebacd9	We describe a boy with the manifestations of the @DISEASE$: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and @PHENOTYPICFEATURE$.	false
+c55cebf4fe294a963c97da7535878548038869ed	Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, @PHENOTYPICFEATURE$, progeroid face, and Rieger anomaly (@DISEASE$).	false
+a2536f78ab5f0ec2e153d18c99a2be0385e87982	Heterozygous mutations in the gene encoding the p85? regulatory subunit of PI3K (PIK3R1) have been identified in patients with @DISEASE$ - a disorder characterized by @PHENOTYPICFEATURE$, partial lipodystrophy, and insulin resistance.	false
+d3139964b69ec6d8a875454706d5c7e9a4032581	Plasma @DISEASE$ was discovered in a 12-yr-old male with profound @PHENOTYPICFEATURE$ athetoid spastic quadriparesis, optic atrophy, sensory peripheral neuropathy, and suprabulbar signs.	false
+cadb790262418d681488160a306a6ea68ccd358e	@DISEASE$, @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+274b3da012f60493245759691325b7e2ebdcc42c	Patients with an asymptomatic presentation or mild symptoms (n = 4) had no significant difference in WSS in feeding vessels compared with normal contralateral vessels, whereas patients presenting with hemorrhage, severe headaches/@PHENOTYPICFEATURE$, or focal neurologic deficits (n = 6) had significantly higher @DISEASE$ in feeding vessels compared with contralateral vessels.	false
+390cf7ed89b6086067b8849d61f551d5a6638bda	Patients with an asymptomatic presentation or mild symptoms (n = 4) had no significant difference in @DISEASE$ in feeding vessels compared with normal contralateral vessels, whereas patients presenting with hemorrhage, severe headaches/@PHENOTYPICFEATURE$, or focal neurologic deficits (n = 6) had significantly higher WSS in feeding vessels compared with contralateral vessels.	false
+a2c3277d97e7a4d281adffe31f8254f451711bd5	A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, @PHENOTYPICFEATURE$, mild kyphosis and poor muscle tone, the diagnosis being the @DISEASE$.	false
+1f2ae7e81c2d96b37416e3fac3687ff0e82de3ae	@DISEASE$ is an X-inked-dominant @PHENOTYPICFEATURE$ in which there is deficient osteoblastic activity.	false
+67c3f3d9a87ac2a722835261b33514e02938f0d4	@DISEASE$ (MNS; MIM 309350) is an X-linked @PHENOTYPICFEATURE$ caused by mutations in FLNA.	false
+04dbc10755882eea190a73ab1180ec9a752626d7	@DISEASE$ (MNS) is a rare congenital X-linked dominant @PHENOTYPICFEATURE$, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism.	false
+f8cb648f49358e5eb543c4d08002bf55e5f80cb7	@DISEASE$ (MNS) is a female-limited @PHENOTYPICFEATURE$ inherited in a X-linked dominant pattern.	false
+c3b8fbf4f2a0e6dc70bf8e98ce90a81aa51fb7c2	@DISEASE$ is an X-linked dominant @PHENOTYPICFEATURE$ in which patients often succumb at an early age to chronic pulmonary disease.	false
+18396fb9a27fb6b78e45cc5d7e7e2dab315f22d2	This paper describes the case of a 13-year-old girl diagnosed with @DISEASE$ presenting with different forms of @PHENOTYPICFEATURE$, such as cranial hyperostosis, short upper limbs, bowed long bones, metaphyseal thickening, genu valgum (knock-knee), shortened distal phalanges, narrow pelvis and shoulders, rib tapering and irregularities, elongation of the vertebrae, kyphoscoliosis, micrognathia, hypoplastic coronoid processes of the mandible, left stylohyoid ligament suggesting ossification, and dental development anomalies.	false
+7534171111070380643e97b3175a32c9b27b35a8	Human haploinsufficiency of the transcription factor Tcf4 leads to a rare autism spectrum disorder called @DISEASE$ (PTHS), which is associated with severe @PHENOTYPICFEATURE$ and development delay.	false
+01bbc3c521a68756ccffc07c34751db5feffd3fa	End-stage renal disease (ESRD) and acquired @PHENOTYPICFEATURE$ disease associated with dialysis are known risk factors of @DISEASE$ (pRCC); however, it is not known whether renal insufficiency alone is a risk factor for pRCC.	false
+62d5c84b3b0dd78b2ae0835007d941af41094fea	[A case of @DISEASE$ mimicking a hemorrhagic @PHENOTYPICFEATURE$].	false
+8eb9d7706024488a90d581654c09b33e54d1c87a	The present review discusses the pathophysiological role of mast cells in different diseases, including atherosclerosis, pulmonary hypertension, ischemia-reperfusion injury, male infertility, autoimmune disorders such as rheumatoid arthritis and multiple sclerosis, @DISEASE$ (interstitial cystitis), anxiety, Alzheimer's disease, nociception, @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+c05bc77f0b0a240b0c3d209b27286dcbef090536	Senile @PHENOTYPICFEATURE$ epilepsy in @DISEASE$.	false
+4e71603c20e1d6993645c92fc5b2af7c7d0ae75c	Gene expression signature of @PHENOTYPICFEATURE$ in a mouse model of @DISEASE$ during postnatal development.	false
+108e8f47c94094350488bad3a8b6901d821c4d0a	Alzheimer's disease, Parkinson's disease, myoclonus epilepsy of the Unverricht-Lundborg type, @PHENOTYPICFEATURE$, tardive dyskinesia and @DISEASE$ have been associated with several mitochondrial alterations.	false
+9938fe04795576d27a5269cb32a20b13492f042e	Alzheimer's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy of the Unverricht-Lundborg type, spinocerebellar degeneration, tardive dyskinesia and @DISEASE$ have been associated with several mitochondrial alterations.	false
+fc68ef6201dfab7081aeac4378038e79c855e25f	Conversely, none of them presented @DISEASE$ or @PHENOTYPICFEATURE$.	false
+6b59fbe3d3dff04d96fafd65fa0b16a563ba97fe	Progressive @PHENOTYPICFEATURE$ epilepsy in @DISEASE$ patients with dementia.	false
+121601bf2f531160f58399fb3ce72d0944ec4bc5	Increased prevalence of renal and @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+9641d9aa80faa3f309f4b796efa8e83ffe4b141f	It has been recognized for many years that @PHENOTYPICFEATURE$ are frequently observed in association with @DISEASE$ (DS).	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4675a2dcc1f5e1e679f97bc09842dfc5203cd57b	Senile @PHENOTYPICFEATURE$ epilepsy in @DISEASE$: a video and EEG presentation of two cases.	false
+7d8fb16d22fc446c1997a53a0b6da91e624fbd25	@PHENOTYPICFEATURE$ is a consistent finding in necropsy studies of children and adults affected by @DISEASE$.	false
+fbdfc123bf2521d824e4d2cf8f265bbc0916b576	In 2007, there were 1330 recipients with a diagnosis of @PHENOTYPICFEATURE$ in MS Medicaid @DISEASE$ programme.	false
+91d0843561f29c03bedd8136046259fed5185dac	David, a 12-year-old boy with @PHENOTYPICFEATURE$, developed @DISEASE$ and died 3 months later.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+8c08f81522f406f1fc5a7a4293bd1b40c88c5a4d	The main anesthetic challenges in patients with Congenital Central Hypoventilation Syndrome and @DISEASE$ include hemodynamic instability, the propensity to develop hypothermia, hypercarbia/@PHENOTYPICFEATURE$, and the need to perform bilateral sequential lung isolation requisite to the thoracoscopic implantation technique.	false
+407cd282c79cc7e9d8fbfd831c4b8f315bce6e9d	All pediatric cochlear implantation recipients with @DISEASE$, Usher syndrome, Dandy-Walker syndrome, or @PHENOTYPICFEATURE$.	false
+d96f4f1e31f3b726e5fa2db31d04645f8c953817	@DISEASE$: iris and choroidal @PHENOTYPICFEATURE$: findings on anterior and posterior segment imaging.	false
+ef07a0a03fed9cc42852d7e89a4678328e2a6b54	@DISEASE$ manifests @PHENOTYPICFEATURE$ of the iris and choroid with imaging features showing a slight reduction in the thickness of the affected tissue.	false
+f297b8efb503521ff0819da5ed83f2da283b347f	A white lock of hair on the forehead could be seen in 80% of cases The differential diagnosis includes vitiligo, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+da17af60f5f2c8d2b47fea4493ece57c97c14cc6	One such disorder, @DISEASE$ (WS), is a mendelian trait characterized by @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+7f95cf79c10c52f790c87c8a38518a0b96ad4e13	Localized hypopigmentation can be found in piebaldism, @DISEASE$ and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+e20869c7b93aabeb8f06c0db99f9110b2fee2574	Localized @PHENOTYPICFEATURE$ can be found in piebaldism, @DISEASE$ and Tietz syndrome, whereas diffuse forms are typical for oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+5e91082a8ebb4d66d148b648ddc15854b06e3112	@DISEASE$ (WS) comprises sensorineural hearing loss, @PHENOTYPICFEATURE$ of skin and hair, and pigmentary disturbances of the irides.	false
+a3bbb9ab016d339922ee7e73fefbeb6825b1f9d6	To demonstrate iris and choroidal @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+11a00508c6ea7e0e4b8e22e6547248247b8343df	@DISEASE$ (WS) is a hereditary disorder that causes @PHENOTYPICFEATURE$ and hearing impairment.	false
+99afe81c22da693be28bdd1506c0cbc38f22067d	One of the most common of these is @DISEASE$, which includes @PHENOTYPICFEATURE$ and sensorineural hearing loss in the phenotype.	false
+e600803154d05f05c5d51e799253909cb82682a1	Manipulation of collagen IV could be a novel approach for the prevention and treatment of diseases such as @DISEASE$, severe pulmonary arterial hypertension, and @PHENOTYPICFEATURE$ invasion.	false
+fcf5d2b276593230c67ee616f3deac02142e46af	Miller-Dieker syndrome (@DISEASE$) is associated with larger deletions of 17p13.3 and consists of classical lissencephaly with additional phenotypes including @PHENOTYPICFEATURE$.	false
+69969181c9cf9eec864568f5b9dbd3eb96c0c73c	@DISEASE$ (MDS) is associated with larger deletions of 17p13.3 and consists of classical lissencephaly with additional phenotypes including @PHENOTYPICFEATURE$.	false
+3bb1015938a57849d0dbb9d3dd077faa758c6574	The @DISEASE$ (MDS), a rare congenital disorder manifested by characteristic @PHENOTYPICFEATURE$ and lissencephaly (smooth brain), is associated with microdeletions of the distal 17p region.	false
+1855d4206dbf2f0499c0cef7a0b3783024623d1c	The Miller-Dieker syndrome (@DISEASE$), a rare congenital disorder manifested by characteristic @PHENOTYPICFEATURE$ and lissencephaly (smooth brain), is associated with microdeletions of the distal 17p region.	false
+a3f0c8ab4877ab9c76bd07001164a328259f9069	The @DISEASE$ (MDS), composed of characteristic @PHENOTYPICFEATURE$ and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13.	false
+be639caa733bd0562399c5335df2006958bbe72d	The Miller-Dieker syndrome (@DISEASE$), composed of characteristic @PHENOTYPICFEATURE$ and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13.	false
+48c71c74b5e3db5ac76d0ce8ad86bd5d542143cb	Both patients had typical cranio-@PHENOTYPICFEATURE$ and abnormal magnetic resonance imaging findings, but no deletion in 17p13.3 for @DISEASE$.	false
+6a1e143115c0847e8d91cfd908c058f8b70b2706	A patient with polyarthritis, peripheral mononeuritis multiplex with spatial and temporal fluctuation, and eczematous, ulcerative @PHENOTYPICFEATURE$ in the lower extremities was found to have myelodysplastic syndrome (@DISEASE$) in the bone marrow and concomitant large granular lymphocytosis in the peripheral blood.	false
+88d31490308699461dbed68996240e2f64569b31	An 80-year-old man, immunocompromised by myelodysplastic syndrome (@DISEASE$), developed a @PHENOTYPICFEATURE$ with exfoliation and eruption on his face and scalp.	false
+8d46e6f2e3b82a2a1f89d8fa5539d530ea09646b	Six in vitro growth patterns were observed; 85% of patients with @DISEASE$ showed various @PHENOTYPICFEATURE$ patterns, and 42% of all MDS patients exhibited a leukemic growth pattern at diagnosis.	false
+6ccea2092c18eb6e31ac70c3a10a657ccb32131a	Six in vitro growth patterns were observed; 85% of patients with MDS showed various @PHENOTYPICFEATURE$ patterns, and 42% of all @DISEASE$ patients exhibited a leukemic growth pattern at diagnosis.	false
+6eee56f90c5020ab064feb6ce78d316fcb014b61	We describe a case of acquired monosomy 7 myelodysplastic syndrome (@DISEASE$) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+8ad7fd689424aac461dbb650c3402516d75162f1	Abstract We report the case of a 56-year-old Japanese woman with Beh?et's disease and myelodysplastic syndrome (@DISEASE$), who had a history of episodic high-grade fever, recurrent oral and genital ulcers, and @PHENOTYPICFEATURE$, during a 13-year period from 1989 to 2002.	false
+7521fee137a11528ccbcc5de46583d9b3d9e42b0	The type X collagen gene (COL10A1) is currently known as the disease-causing gene of @PHENOTYPICFEATURE$ type Schmid (@DISEASE$), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family.	false
+a754ad4fb245c957293aed414da9813b95764732	Our findings were confirmed in sensitivity analyses employing a lower threshold for @DISEASE$, and excluding individuals with @PHENOTYPICFEATURE$ or liver disease.	false
+863e4ca1a305b7f73f03aa167dcd3e489926913f	The system described provides an inducible model of @PHENOTYPICFEATURE$ with @DISEASE$ glucose tolerance.	false
+9d438571273ced29f48132bf6e76aeb797a94e25	The significant related factors of abnormal @DISEASE$ were @PHENOTYPICFEATURE$ (odds ratio = 2.2; 95 percent confidence interval = 1.1-4.2;	false
+76dce1a73c5ba80085400601b619158fc4a6155b	In the analysis stratified by physique (non-overweight/obesity, overweight, or @PHENOTYPICFEATURE$), all anthropometric measurements were significantly positively correlated with @DISEASE$ levels among boys, while only WHtR was significantly positively correlated with ALT levels among girls.	false
+984c823b052c895c43f96044e9d8765bd8f550e6	In the analysis stratified by physique (non-overweight/@PHENOTYPICFEATURE$, overweight, or obesity), all anthropometric measurements were significantly positively correlated with ALT levels among boys, while only WHtR was significantly positively correlated with @DISEASE$ levels among girls.	false
+82b39f60e0550f0515fed9602e9358d9595dad9d	In the analysis stratified by physique (non-overweight/@PHENOTYPICFEATURE$, overweight, or obesity), all anthropometric measurements were significantly positively correlated with @DISEASE$ levels among boys, while only WHtR was significantly positively correlated with ALT levels among girls.	false
+ab08b1bf3dc2fccf579a6aac7c8aba017ceb9957	In the analysis stratified by physique (non-overweight/obesity, overweight, or @PHENOTYPICFEATURE$), all anthropometric measurements were significantly positively correlated with ALT levels among boys, while only WHtR was significantly positively correlated with @DISEASE$ levels among girls.	false
+0fa23ecba23479a28b96692deb186ea5a8c269a4	There are many mechanisms by which @PHENOTYPICFEATURE$ @DISEASE$ renal physiology and metabolism.	false
+bab740b0a3efbf7d48a3a581294575e18289cd3c	Gastric bypass-induced weight loss @DISEASE$ @PHENOTYPICFEATURE$-associated patterns of plasma pentraxin-3 and systemic inflammatory markers.	false
+9b6dc495d51d17120b81f92fa916a7af4f319d76	The ensuing mild @PHENOTYPICFEATURE$ is useful to study how hypoestrogenism @DISEASE$ adiposity.	false
+db85566107de6e597cfa9070c54d9d06e1f979d1	The major contributing factors in donors with a raised @DISEASE$ were alcohol consumption and @PHENOTYPICFEATURE$.	false
+77d4246c43d86a84827ec93ee7732e91e5291c33	Mild alanine aminotransferase (@DISEASE$) elevations (30-100 IU/l) are commonly found and could be associated  with @PHENOTYPICFEATURE$; unfortunately, these findings frequently remain without follow-up.	false
+0e96ba2fd52ad16f041666aabc638cc5a91c60bf	In conclusion, we describe a new mechanism whereby @PHENOTYPICFEATURE$ @DISEASE$ intrauterine metabolism.	false
+5f1fe65e12a89ce53a1dcb761972e12ca8f7a079	Forty-nine patients with @DISEASE$ complicating diabetes mellitus, collagen vascular disorders, @PHENOTYPICFEATURE$/lymphoma, and other hematologic malignancies are described.	false
+15dc1f979506a55381fdb146f7ed610ba4be5c80	Effects of the @PHENOTYPICFEATURE$ suppressor PTEN on the pathogenesis of @DISEASE$ in Chinese patients.	false
+5ec5fe00c041c0619873b6809e2c6bf1abbc3088	[Progressive elevation of CA 19-9 @PHENOTYPICFEATURE$ marker in a nonagenarian with advanced @DISEASE$].	false
+4b64665539045314a50c8db85f3a15dca7246713	In comparison with @DISEASE$, ChitoCFA may accelerate an apoptosis of @PHENOTYPICFEATURE$ cells.	false
+9a4846886e75f3616fabf38ae91d4c188a47e032	A @PHENOTYPICFEATURE$ was found in the left S10 in a chest CT scan of a 72-year-old male patient with @DISEASE$/usual interstitial pneumonia (IPF/UIP).	false
+b5ad80c04cd365e044cf01897bef4dbcebaef3d2	A @PHENOTYPICFEATURE$ was found in the left S10 in a chest CT scan of a 72-year-old male patient with idiopathic pulmonary fibrosis/@DISEASE$ (IPF/UIP).	false
+874bddfc4dbe88f4c8e8c1817d636689350cff05	However, excessive telomere shortening can affect almost any organ system, so the clinical manifestations are protean, including developmental delay, @PHENOTYPICFEATURE$, exudative retinopathy, aplastic anaemia, acute myeloid leukaemia, @DISEASE$, idiopathic hepatic cirrhosis, head and neck cancer and dental abnormalities, and may be multi-systemic.	false
+48a3e474c8dde179eaf88d975e38fc6f60b7c24b	The significance of elevated @PHENOTYPICFEATURE$ markers among patients with @DISEASE$ before and after lung transplantation.	false
+1d8b6b70ca668a2a37b9a129efb796abfa3b9234	Immunosuppressive @PHENOTYPICFEATURE$ microenvironment of @DISEASE$-associated squamous cell carcinoma of the lung.	false
+2eaa310db44514f8a82d2a5bdf6de196cdc72633	Suppressor T-cells developed in syngeneic @PHENOTYPICFEATURE$-bearing mice treated with @DISEASE$ was tumor specific.	false
+4ac6b03b8a31d63389f2d504a7354608c7b16cae	Suppressor T-cells developed in syngeneic tumor-bearing mice treated with @DISEASE$ was @PHENOTYPICFEATURE$ specific.	false
+2ac768701ee67addb9d65c25bece55525aebe713	Benign and malignant fibroproliferative disorders (FPDs) include @DISEASE$, hepatic cirrhosis, myelofibrosis, systemic sclerosis, Dupuytren's @PHENOTYPICFEATURE$, hypertrophic scars, and keloids.	false
+ea7b4c4b6a4e53f8cdd5bd79f485c6520a45e45f	Characterization of the @PHENOTYPICFEATURE$ immune-microenvironment of lung adenocarcinoma associated with @DISEASE$.	false
+70660b900cb9c050f115a9f874240d956461cc71	Hypertension duration is an independent predictor for AF development, while @PHENOTYPICFEATURE$/hypopnea duration is the main factor for @DISEASE$ onset in hypertensive obese patients with OSA.	false
+0b20fedfe8b171db8ceef9d0118a449ce02cb724	Progress has been achieved in the understanding and classification of these diseases.Cardiac involvement in neuromuscular diseases namely @DISEASE$, @PHENOTYPICFEATURE$ and dilated cardiomyopathy with its impact on prognosis, is often dissociated from the peripheral myopathy.	false
+12a7c79608210ebd5a468af06ff0b2544fadcafd	Cerebral palsy is a pathological state characterized primarily with the damage to the motoric functioning which can be accompanied by the other disorders such as: problems with sight and hearing, intellectual deficit, emotional problems, @DISEASE$, @PHENOTYPICFEATURE$, epileptic seizures etc. Martin Bax defines this entity as a disorder of movements and postural balance due to defect or damage of the young brain (Gavrankapetanovi? I. at all., 2001).	false
+f5b9238e94bb9c971b95bd436aec337c46aa9f3c	We studied a large family affected by an autosomal dominant @DISEASE$ associated with sinus node dysfunction, arrhythmia, and right and occasionally left @PHENOTYPICFEATURE$ and dysfunction.	false
+ad5bf6901776e285d75650bf16082e147d031845	The patients with the infarction complicated by AV @DISEASE$ showed more extensive myocardial necrosis, with the degree of the block correlating with the infarct size, more frequent occurrence of such complications as cardiogenic shock, @PHENOTYPICFEATURE$.	false
+1781dbda340d23c58d5178698bab1105037af226	In patients with TTC @DISEASE$, @PHENOTYPICFEATURE$ and cardiogenic shock were observed less frequently than in the control group (14.7?% vs 30.7?%; p?= 0.0078).	false
+ce27b9856870fa973166fe579ce783b78f8ba352	Cerebral palsy is a pathological state characterized primarily with the damage of the motor functioning which can be accompanied by the other disorders such as: problems with sight and hearing, intellectual deficit, emotional problems, @DISEASE$, @PHENOTYPICFEATURE$, epileptic seizures etc.	false
+6aa0d01cabdb92c2c470881e0c3c956c3d4ae372	Death was most often due to vascular events: myocardial infarction (4 patients), @DISEASE$ (1), ventricular arrhythmia (2), ischemic stroke (1), lung thromboembolism (1), cancer (5), pneumonia (1), peritonitis (1), @PHENOTYPICFEATURE$ (1), and dehydration (1).	false
+129128cc6f62ffd6fbc2109a69cca6ec90cd7c3e	The following clinical date were analyzed: sex, presence of retrosternal pain and its aggravation, time from the onset of pain to hospitalization, anginal pain preceding the infarction and such complication as @DISEASE$, @PHENOTYPICFEATURE$, cardiogenic shock, in-hospital deaths.	false
+e503442e5436b8b55af476a3702feeae4b60c937	The mean age of children with ADHD was 10.3?3.1 years; 77.6% were male, 72.9% had been diagnosed with at least one comorbid condition - in particular @DISEASE$ (24.3%), learning disorders/@PHENOTYPICFEATURE$ (23.4%) and language/communication disorder (19.6%) - and 32.7% were receiving ADHD medication.	false
+55036d7b6a2d3db77e87b5b6dbf47928d81f3a36	@DISEASE$ (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary @PHENOTYPICFEATURE$, plus at least one of the following: complete heart block, cerebellar dysfunction and CSF protein >100 mg/dl.	false
+ff3bb9b78966d69e22ffa669959511324f8da632	@DISEASE$ (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary @PHENOTYPICFEATURE$, plus at least one of the following: complete (or not) heart block, cereberal dysfunction and CSF protein above 100 mg/dl.	false
+76a30465f933b6043c4a20e26d55f3667403f6a0	The @DISEASE$, (characterized by its onset before the age of 20 years, chronic ophthalmoplegia, pigmentary @PHENOTYPICFEATURE$ and at least one of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia with frequent rearrangements of the mitochondrial DNA (mtDNA).	false
+016108ea6431c22ce3514d1a09d391a0e6e911e2	At the age of 5 years he developed @PHENOTYPICFEATURE$, tremor, ataxia, proximal muscle weakness, external ophthalmoplegia, and a pigmentary retinopathy (@DISEASE$).	false
+ceb6b35374af8b97503a22840b65d15c126ccaf4	@DISEASE$ (KSS) is a mitochondrial disorder characterized by development of @PHENOTYPICFEATURE$.	false
+c8c9d70ad209bc1b9a9b4cd00fe7a5dc3b2ab31b	One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and @PHENOTYPICFEATURE$ in a young girl, later referred to as @DISEASE$.	false
+e43aa59361700aa6272e252a102d9609adaecd2f	[@DISEASE$ (ECD), an inflammatory myeloid @PHENOTYPICFEATURE$].	false
+9fbba8eb7d244db8c0c28d27bbbc841a2cf8731e	A rare cause of cardiac @PHENOTYPICFEATURE$: an @DISEASE$ with cardiac involvement co-existing with an intracerebral Langerhans cell histiocytosis.	false
+f18c73119d70805ba3a46be57b78adfd05a3ddc0	The @PHENOTYPICFEATURE$ was a rare foramen magnum region xanthogranuloma and a component of @DISEASE$ (ECD).	false
+2815dd7143def02ccfb73779c96bd97a8de300cb	In case of cardial @PHENOTYPICFEATURE$ with interatrial septum or coronary artery involvement together with cerebral manifestations, an @DISEASE$ should be taken into account.	false
+91eeb329cf70698a06f0242f5e9e6180ffef9c5e	Histiocytic @PHENOTYPICFEATURE$, a rare and heterogeneous group of disorders, primarily include @DISEASE$, Langerhans cell histiocytosis, and Rosai-Dorfman disease.	false
+758c6c523d637ba1963a95d675f58bd41fbf10dd	@DISEASE$ progression from miliary pulmonary nodules to large @PHENOTYPICFEATURE$.	false
+60f462ede7d1682fbe03e36289be0a48233615e1	The imaging findings encountered in patients with pericardial hydatid disease and @DISEASE$ may mimic those of pericardial @PHENOTYPICFEATURE$.	false
+7bf9e7423cc6538c95b009034bb36b145d994256	The less common diagnosis are sarcomas, lymphomas, upper urinary tract transitional cell carcinomas, metastases of other primary tumors, the @DISEASE$, the Castleman disease and benign @PHENOTYPICFEATURE$.	false
+c8a67c8079f2503d269fa9acde5354ba8f867743	The less common diagnosis are sarcomas, lymphomas, upper urinary tract transitional cell carcinomas, metastases of other primary @PHENOTYPICFEATURE$, the @DISEASE$, the Castleman disease and benign tumors.	false
+48b6d90ecb7ad0417d68b148ea04c551d9356e8e	The family of juvenile xanthogranuloma family @PHENOTYPICFEATURE$ (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and @DISEASE$ (ECD).	false
+86c873410509748db373593ba41a0ea7a52083c2	Intraosseous xanthoma is a benign @PHENOTYPICFEATURE$, and other diagnoses must be ruled out (histiocytosis X, @DISEASE$, clear cell carcinoma metastasis).	false
+79ce531a854fb1bf7202ebdf1d65374cc7c0f1b5	A 7 yr old male Maltese diagnosed with pituitary-dependent hypercortisolism developed @PHENOTYPICFEATURE$ in conjunction with a large pituitary @DISEASE$ and underwent transsphenoidal hypophysectomy.	false
+8c8cb939c1d2138cdbb21dd89c1b8183cc6eead0	Use of mitomycin C and r-tPA for the management of conjunctival membrane and @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+f7a336a9bc43e8830562803d036e9c49651655be	@DISEASE$ has been associated with neuromuscular, skeletal and @PHENOTYPICFEATURE$ and has also been seen in individuals without these clinical findings.	false
+ce1eb71fd2f1d2d93b789de195dad3670d843340	Etiologies included hypoxic-ischemic encephalopathy; haloperidol treatment with and without @DISEASE$; toxicity of cytosine arabinoside, cyclophosphamide, amphotericin B, and methotrexate; St. Louis encephalitis and other encephalitides; and a pineal tumor with @PHENOTYPICFEATURE$.	false
+afb085f43cdb7ab4c3d97574233348bc3ba3c5f7	Collectively, these data demonstrate that the anorectic and weight-reducing actions of centrally administered NMU and @DISEASE$ are mediated predominantly by NMUR2, suggesting that NMUR2-selective agonists may be useful for the treatment of @PHENOTYPICFEATURE$.	false
+746d571fec00310524637ebe9a71dbbc2f7ce95e	[@DISEASE$ and @PHENOTYPICFEATURE$ in a patient with Huntington's chorea, accompanied by nemaline rods in biopsied muscle].	false
+be18c976748d9bd702c3e4799c509ff72d9151a4	Side-effects reviewed here include: gastrointestinal-associated effects (constipation, hypersalivation, oropharyngeal lesions, nasal congestion, nausea, nocturnal enuresis, and urinary retention), metabolic effects (@PHENOTYPICFEATURE$, insulin resistance, dyslipidemia, impaired glucose tolerance, and hypertension), neuromuscular effects (extrapyramidal side effects, myoclonus, and @DISEASE$, and pleurothotonus), thermoregulatory effects, effects on the liver, pancreas, and kidney, sexual side effects, and effects on skin and bone.	false
+0f5496d565fcc0736caeefe2982848a49937cfd5	A longitudinal, clinical intervention study was conducted in 40 patients between 18 and 65 years old, with @PHENOTYPICFEATURE$ class II and III (BMI > or =35-52 kg/m(2)), divided into 2 groups: no metabolic syndrome (@DISEASE$, n=21) and metabolic syndrome (MS, n=19).	false
+253be81467c69a194d504b8d19fdaedae4f50991	Acute @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5f01cf36b8d94894a8fe6e892f8389e243b48f43	Little is known about @PHENOTYPICFEATURE$ in @DISEASE$ (NMS) in Parkinson's disease (PD), although high levels of serum creatine kinase (CK) suggest the presence of cardiac involvement.	false
+293c3e5cc50cc3eb50be7c2f684c3f1d9f5542b5	Little is known about @PHENOTYPICFEATURE$ in neuroleptic malignant syndrome (@DISEASE$) in Parkinson's disease (PD), although high levels of serum creatine kinase (CK) suggest the presence of cardiac involvement.	false
+f359a286a137e2ff2cab1d35fe1dbb7325e5702c	Hyperthermia and autonomic hyperactivity occur in patients with head trauma, @PHENOTYPICFEATURE$, @DISEASE$, and fatal familial insomnia.	false
+0f9215d8fc1edf1761f170fda2f0df9610a79133	We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, @PHENOTYPICFEATURE$, patent ductus arteriosus, and facial dysmorphism reminiscent of @DISEASE$, a suspected ciliopathy.	false
+3c1b239e5f65dcdc555fedbc3ae921175156487c	@PHENOTYPICFEATURE$ @DISEASE$ in cerebral palsy significantly impedes hand function.	false
+45b3cf8f682c5dcb83a3a8da4330a02c6aeb6039	Absence or aberrance of the extensor mechanism, arthrogryposis, @PHENOTYPICFEATURE$ and the clasped @DISEASE$ all may explain this finding.	false
+37baf30ecd638bb1e06447a09cab60d22bfcf3bf	@PHENOTYPICFEATURE$ @DISEASE$ is the result of imbalance between intrinsic and extrinsic forces acting across unstable joints.	false
+f0fcd069a8524163a6661b06da3084e806a906c0	A new class of drugs antagonizing type 1 lysophosphatidic acid receptor has been developed and is under investigation in clinical trials for the treatment of @DISEASE$ and systemic fibrosis or @PHENOTYPICFEATURE$.	false
+32f5594066d5933bee7117210acc46c9412e6e17	The treatment of the Goodpasture syndrome, collagenoses (rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis/@PHENOTYPICFEATURE$, matosus, progressive systemic sclerosis/scleroderma, dermatomyositis/polymyositis), necrotizing angiitis (periarteritis nodosa, Wegener's granulomatosis) and @DISEASE$ is reviewed.	false
+2b2635b594ac54af0f1e52afa2b8836e70485930	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called @DISEASE$. In this paper we describe an 18-year-old girl with borderline mental impairment, seizures, retinal degeneration, @PHENOTYPICFEATURE$, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+0687bd6bcea0e92f3f3eeb6a08d4b83244ee1157	Costello syndrome (CS; MIM 218040) is characterized by @PHENOTYPICFEATURE$, facial dysmorphism, cardiac defects and predisposition to @DISEASE$ (CS/ERMS) and other neoplasias.	false
+594beaf7d91a8a2d3fcdb20358195d4517e7f597	Costello syndrome (CS; MIM 218040) is characterized by short stature, @PHENOTYPICFEATURE$, cardiac defects and predisposition to @DISEASE$ (CS/ERMS) and other neoplasias.	false
+980369185eec7bf91b55b64ca5f475c3efb6da24	CS results in failure-to-thrive, intellectual disabilities, @PHENOTYPICFEATURE$, coarse facial features, skeletal abnormalities, congenital heart disease, and a predisposition for cancer, most commonly @DISEASE$ (ERMS).	false
+8b7d31d327a1adcaa7c50dec3c46f588bedbb539	Spontaneous @DISEASE$ syndrome should be considered in patients with unexplained thrombocytopenia after knee replacement surgery even without heparin exposure, and a high index of suspicion for adrenal hemorrhage is needed in patients with fever, @PHENOTYPICFEATURE$, and shock.	false
+a2eca7ba009c4ccc876072339c61474eee5becab	The female was previously diagnosed with oculocutaneous @PHENOTYPICFEATURE$ (OCA1A) and her spouse was diagnosed with @DISEASE$.	false
+27be550f53f6cd708ed0156a0a62f6469cbd6454	'Kivlin' syndrome is a similar disorder involving @DISEASE$, short stature, @PHENOTYPICFEATURE$, delayed development, facial clefting in some, ear abnormalities and a characteristic facial appearance attributable mainly to a 'cupid's bow' shape of the upper lip.	false
+2aa47b63738b6848cc26a94211918355178efe3a	Whole-exome sequencing showed a novel de novo @PHENOTYPICFEATURE$ (p.Pro1310Glnfs*46) in KMT2A, which confirmed the diagnosis of @DISEASE$.	false
+5f2f1f639dfc4bdc1558082f87e03064f2eccc52	A 1-year-old Chinese boy exhibited growth delay, psychomotor retardation, limb hypotonia and @PHENOTYPICFEATURE$ that was consistent with @DISEASE$.	false
+dc61af8d7b8e2c6d84b6e5cce8a207f05eb48a26	We diagnosed a Chinese boy who presented postnatal growth retardation with @DISEASE$ caused by a novel de novo @PHENOTYPICFEATURE$ in KMT2A.	false
+3989d74e8501bb748bb65a64ee807f5d368b7348	Patients with an asymptomatic presentation or mild symptoms (n = 4) had no significant difference in WSS in feeding vessels compared with normal contralateral vessels, whereas patients presenting with hemorrhage, severe @PHENOTYPICFEATURE$/seizures, or focal neurologic deficits (n = 6) had significantly higher @DISEASE$ in feeding vessels compared with contralateral vessels.	false
+21ed2293ced74693a301c63706f44f72d9dec0c3	Patients with an asymptomatic presentation or mild symptoms (n = 4) had no significant difference in @DISEASE$ in feeding vessels compared with normal contralateral vessels, whereas patients presenting with hemorrhage, severe @PHENOTYPICFEATURE$/seizures, or focal neurologic deficits (n = 6) had significantly higher WSS in feeding vessels compared with contralateral vessels.	false
+24ef3376d01114c419eeaf6fc4b384664ca88b4f	Wiedemann-Steiner syndrome (@DISEASE$) is a rare genetic disorder characterized by growth retardation, @PHENOTYPICFEATURE$, hypertrichosis cubiti and neurodevelopment delay.	false
+c239ee02d2e9a946232ad48d849600ed59dfc43c	Wiedemann-Steiner Syndrome (@DISEASE$) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+6806a9fd711c45bd4992f05984709af627b72d7a	Neuropathologies [cerebral atrophy, @PHENOTYPICFEATURE$, atherosclerosis, @DISEASE$ (CAA), Lewy bodies, hippocampal sclerosis (HS), hippocampal TDP-43 proteinopathy, neuritic plaque (NP) and neurofibrillary tangle (NFT) counts, Braak staging, and National Institute on Aging-Reagan Institute (NIARI) criteria for the neuropathological diagnosis of Alzheimer's disease (AD)] were compared among subjects with different ratings of dementia.	false
+f12decd2f3278224fc690e3c8c5cc8cf808458f9	However, in one family, the causative gene for FHH is located on 19p13, referred to as FHH type 2, and in another family it is located on 19q13, referred to as @DISEASE$. Gain-of-function CaSR mutations have been shown to result in autosomal dominant @PHENOTYPICFEATURE$ with hypercalciuria (ADHH) and Bartter's syndrome type V. CaSR auto-antibodies have been found in FHH patients who did not have loss-of-function CaSR mutations, and in patients with an acquired form (i.e.	false
+e862e0e8c3f9e08c68489936cfb2e13e36e1cd2f	There are several causes for ST segment abnormalities in leads V1 to V3. @PHENOTYPICFEATURE$ and @DISEASE$ are among them.	false
+a4168224969c71fb17061b06b497d9a193f716fc	The management of @DISEASE$ unmasked by @PHENOTYPICFEATURE$ in a patient with cellulitis.	false
+d39ef47595a46806a3324297b4ddd9f753a69700	We describe a case of @DISEASE$ disclosed by @PHENOTYPICFEATURE$ and with non-significant alterations after a flecainide test.	false
+fb736d849e3face065d30717debc4832e4f2aca8	The population consisted of four patients with ischemic heart disease, three of them on hemodialysis (two with subclavian vein thrombosis), five with @PHENOTYPICFEATURE$, four with @DISEASE$, three with arrhythmogenic right ventricular cardiomyopathy, one with transposition of the great vessels, two with dilated cardiomyopathy and four with hypertrophic cardiomyopathy.	false
+d11a7a46318b59dd481decce6bd84ada2af027fe	Type I Brugada pattern is definitively more common among patients with @PHENOTYPICFEATURE$, suggesting that asymptomatic @DISEASE$ is more prevalent than previously estimated.	false
+e8a966d675b35d96883a936b2187def5172e1335	@DISEASE$ (BrS) as an established channelopathy can be unmasked by various triggers like drugs, @PHENOTYPICFEATURE$, etc. Herein, we presented a female patient in whom type 1 Brugada pattern on admission electrocardiography might be unmasked by heat exhaustion.	false
+4be5538b42b45742bd5387e9b8214b5f0aed8405	Ventricular and supraventricular arrhythmias and heart failure in a patient with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5a6c26ffb3deb790cdbfd5b141098331e50b5599	From these cases, asymptomatic @DISEASE$ should be considered as one of differential diagnoses when we examine the patients who complained of @PHENOTYPICFEATURE$ and chest pain.	false
+489e5d9c12e8b38b06ca1a7d89fac3030663d6ec	We report a 47 year-old male patient with coexistence of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+39fc8c66f646235f2ca1f32a70de737419ac82a2	Arrhythmic events in @DISEASE$ patients induced by @PHENOTYPICFEATURE$.	false
+6eea3d5d9cc61ac7c2ddf9cbeab5d6f693ecb6b9	Remitting seronegative symmetric synovitis with pitting @PHENOTYPICFEATURE$ syndrome, @DISEASE$, rheumatoid arthritis, and systemic sclerosis tended to show strong and multiple joint F-18 FDG uptake.	false
+44286082fe88403aaa82f3915d974a7d7d837bbe	He also had @DISEASE$ (Sharp's syndrome) with acrosclerosis, proximal finger @PHENOTYPICFEATURE$, Raynaud's phenomenon, and high titers of ANA and U1-RNP-antibodies, as well as osteoporosis.	false
+30140fcde1ac8ef8761a3e97259e50729886e06c	@DISEASE$ associated with short stature, hearing loss and @PHENOTYPICFEATURE$: a new syndrome with autosomal recessive inheritance?	false
+cd04e37fbb45d80a8ab0243a91a8cf8e15a05536	It was found out that during the process of ageing of rats kept in the conditions of the broken rhythm of day and night, different breaches of metabolism in the form of abdominal obesity, @PHENOTYPICFEATURE$, hypercholesterolemia, hyperglycemia, @DISEASE$ and glycosuria occurred.	false
+09ff26d789683da6f4c786473babdbee187cdf99	It was found out that during the process of ageing of rats kept in the conditions of the broken rhythm of day and night, different breaches of metabolism in the form of abdominal obesity, hyperinsulinemia, @PHENOTYPICFEATURE$, hyperglycemia, @DISEASE$ and glycosuria occurred.	false
+1acd80796d3f0de4e74f1cb8c306ad1a7df0aca0	@DISEASE$ (FH) is characterized by autosomal dominantly inherited @PHENOTYPICFEATURE$, xanthomas and premature coronary heart disease.	false
+6d72cf3a84851f07d1abe7558a98b2a27ed872d8	Patients with @DISEASE$, nonfamilial @PHENOTYPICFEATURE$, or statin intolerance participated in the trials.	false
+13dd988db1fe201de11997cfef932c4df54a54ec	Does intrauterine exposure to @PHENOTYPICFEATURE$ adversely affect @DISEASE$ phenotype?	false
+f5f0a68005046d70f385eac7d6094767109c3cec	It was found out that during the process of aging of rats kept in the conditions of the broken rhythm of day and night, different disturbances of metabolism in the form of abdominal obesity, hyperinsulinemia, @PHENOTYPICFEATURE$, hyperglycemia, @DISEASE$ and glycosuria occurred.	false
+3d93fe4f5a12738fe1f278e768014eaaf069fac5	It was found out that during the process of aging of rats kept in the conditions of the broken rhythm of day and night, different disturbances of metabolism in the form of abdominal obesity, @PHENOTYPICFEATURE$, hypercholesterolemia, hyperglycemia, @DISEASE$ and glycosuria occurred.	false
+5892b8e02519bd5e1d3cfc013ceea5b24a0829a5	Greater preclinical atherosclerosis in treated monogenic @DISEASE$ vs. polygenic @PHENOTYPICFEATURE$.	false
+ef5c644d5229591fb6ede4fde743141d9d4e12a6	These effects are particularly relevant to high-risk individuals with marked @PHENOTYPICFEATURE$, such as those with @DISEASE$.	false
+441797adc3d14e4778f02423b86382a2f7a5900d	The given reference ranges of plasma lipids can assist in early identification of individuals with hypocholesterolemia and @PHENOTYPICFEATURE$, especially @DISEASE$.	false
+6ecd7d3a828e835ad19fc84033194a4698529cf8	@PHENOTYPICFEATURE$ and atherosclerosis in the WHHL rabbit, an animal model of @DISEASE$.	false
+9c52a4448f509d8342f107ae5a4ea81ae818229f	@DISEASE$/autosomal dominant @PHENOTYPICFEATURE$: Molecular defects, the LDL-C continuum, and gradients of phenotypic severity.	false
+763320532f181ed3a147d2c0e733ca4c020b4ebf	We report the development and spontaneous resolution of annular @PHENOTYPICFEATURE$ skin lesions consistent with sarcoid dermatitis in a child with @DISEASE$ (DGS) carrying the 22q11.2	false
+afeff7283ebc6729e1db0f151ceda6203cb8632e	We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, @PHENOTYPICFEATURE$ and brachysyndactyly, consistent with the diagnosis of @DISEASE$.	false
+667978f125d0a2823ac3a81e58359d82a9627fe0	A patient with neuromyotonia, @PHENOTYPICFEATURE$ and @DISEASE$ (MG) is described.	false
+b0a86ce14df5724e049bb59e70b96d2ea4b639ab	She initially had @DISEASE$ and then developed polymyositis, profound @PHENOTYPICFEATURE$, and ventilatory muscle failure.	false
+22f0b362e1e843749a23c8a6167018b48c52f544	@PHENOTYPICFEATURE$, laryngeal paralysis, @DISEASE$ gravis, esophagitis, and chronic or recurrent gastric dilatation with or without volvulus were associated with an increased risk of developing megaesophagus.	false
+cb1ce344e4ba334c6d353ec6a85cc93dfcfde819	There was no evidence for Guillain-Barr? syndrome, multiple sclerosis, brainstem @PHENOTYPICFEATURE$, @DISEASE$, metabolic encephalopathy, poliomyelitis, diphtheria, botulism, tumor, vasculitis, or extrinsic nerve compression.	false
+7b860b562ea6df3d0a17ab76d3e3b209566d2dfb	Presence of such antibodies in paraneoplastic @PHENOTYPICFEATURE$, neurodegenerative disorders, multiple sclerosis, @DISEASE$ and amyotrophic lateral sclerosis have also been reported.	false
+3a5a48dfd0af1afa69c1b71f6ccb9b0d8b9ba691	@DISEASE$ and @PHENOTYPICFEATURE$ became clinically apparent within days of commencing corticosteroid therapy.	false
+77fb944cfcb4c7e8935b187f97f00dc55eda471d	Neuromyotonia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+501c7e6772571491c15276c10efb81c0e41483a2	@DISEASE$ and @PHENOTYPICFEATURE$ in an Amazon indigenous female.	false
+6ed7bb2ea530c94a09264acbecaf287a9f13a06d	Association of neuromyotonia with @PHENOTYPICFEATURE$, @DISEASE$ and thymoma: a case report.	false
+0014bee922e7944aa333c72dc01c97c9fbca36a2	Encephalopathy, @PHENOTYPICFEATURE$, dysautonomia, @DISEASE$, malignant thymoma, and antiacetylcholine receptor antibodies in the CSF.	false
+03f934a52cac4e81a752bfe3c136d298adaa2555	The effect of @DISEASE$ status on the primary cilium provides a potential mechanism for @PHENOTYPICFEATURE$ development in VHL disease and may help in the understanding of how VHL acts as a tumor suppressor.	false
+15186f61ec6622741c18cf53b2842987ddcbaf88	The effect of VHL status on the primary cilium provides a potential mechanism for @PHENOTYPICFEATURE$ development in VHL disease and may help in the understanding of how @DISEASE$ acts as a tumor suppressor.	false
+a6e4c06bfc185a27e5d2e8c17c14e2fccb1048a7	The effect of VHL status on the primary cilium provides a potential mechanism for @PHENOTYPICFEATURE$ development in @DISEASE$ disease and may help in the understanding of how VHL acts as a tumor suppressor.	false
+1b48f02969dd4f513dfcfd0b6eebb0f438a57ff1	@DISEASE$ is a multisystem disorder predisposing to @PHENOTYPICFEATURE$ and cancer.	false
+8272c34e428c0195e4c84cb4aeddf28dd80d54fb	@PHENOTYPICFEATURE$, renal cancer and @DISEASE$.	false
+fd35bf3906391746dfd12c955d63dee8fb678816	Patients with von Hippel-Lindau (VHL) disease often develop @DISEASE$-/- @PHENOTYPICFEATURE$, which possibly progress into clear-cell renal carcinomas (ccRCCs).	false
+f8f40a7b3197081b5d8f6421106505a639e40163	Patients with von Hippel-Lindau (@DISEASE$) disease often develop VHL-/- @PHENOTYPICFEATURE$, which possibly progress into clear-cell renal carcinomas (ccRCCs).	false
+bdeaded28d243041f7c043ee98ae7ba13a9644dc	Bilateral epididymal cystadenomas, pancreatic and @PHENOTYPICFEATURE$, and cerebellar hemanigioblastoma in the setting of @DISEASE$ disease.	false
+bac00b0669d821e611129d12cb1faa0b25b6cbe2	Here it is shown that VHL inactivation is associated with abrogation of the primary cilium in @PHENOTYPICFEATURE$ of patients with @DISEASE$ disease and in VHL-defective cell lines.	false
+5f4af92feb531c8bbde5b2f28ef2dee5e8fc0a3d	Here it is shown that @DISEASE$ inactivation is associated with abrogation of the primary cilium in @PHENOTYPICFEATURE$ of patients with VHL disease and in VHL-defective cell lines.	false
+990d3d3eadc2e3e5b728acacde2c022821353215	Here it is shown that VHL inactivation is associated with abrogation of the primary cilium in @PHENOTYPICFEATURE$ of patients with VHL disease and in @DISEASE$-defective cell lines.	false
+20db6fa2ad654f3f3dfed6a0e8156084367ea68d	@DISEASE$ disease is a multisystemic disorder predisposing to @PHENOTYPICFEATURE$ and cancer.	false
+58ad126bd5f570a98f4865cc572c3d69fc83db7c	In VHL patients, GSK3beta is subjected to inhibitory phosphorylation in @PHENOTYPICFEATURE$, but not in early @DISEASE$ mutant lesions, and these cysts exhibit reduced frequencies of primary cilia.	false
+27b0bfacc7b4658f3060923d72dfcd29f1b5e7d0	In @DISEASE$ patients, GSK3beta is subjected to inhibitory phosphorylation in @PHENOTYPICFEATURE$, but not in early VHL mutant lesions, and these cysts exhibit reduced frequencies of primary cilia.	false
+2baa1a305b3e4fbecdbc57ec9fbf4a3079bc2d6a	The syndromes of tuberous sclerosis, @DISEASE$, and acquired @PHENOTYPICFEATURE$ disease are reviewed.	false
+c437d6a4f224e4ce7e368b3a6cf42a249daede4d	@DISEASE$ (VHL) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, retinal angiomas, central nervous system hemangioblastomas, and pancreatic cysts.	false
+6c9a3268a55c1da0fd133b24ea2131622c190c5a	Von Hippel-Lindau syndrome (@DISEASE$) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, retinal angiomas, central nervous system hemangioblastomas, and pancreatic cysts.	false
+cf777627f2b30ed465c9a5c0177c638014e906c3	Mitochondrial dysfunctions link to various syndromes and diseases including @PHENOTYPICFEATURE$ epilepsy and ragged-red fiber disease (MERRF), Leigh syndrome (LS), and @DISEASE$ (LHON).	false
+c7f4e0ca41e84d7d2475bccc077426d4984f404c	In addition, we successfully reduced human mutated mtDNA levels responsible for @DISEASE$ (LHOND), and neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa (NARP), in mammalian oocytes using mitochondria-targeted TALEN (mito-TALENs).	false
+85536dbcae61ac3a78bd175846abe6f531bfb494	@DISEASE$ mutations associated with infantile-onset @PHENOTYPICFEATURE$ epilepsy.	false
+a14e9a2ea693438d7fcced34439d0669dd248135	Mutations usually associated with either mitochondrial encephalopathy, lactic acidosis and stroke-like episode, @PHENOTYPICFEATURE$ epilepsy with ragged red fibres, or those strongly linked to @DISEASE$ (LHON) were not detected in patients or controls.	false
+9aeff3f7b8f7f6d43cb4c5fabcd7637c3933b8ae	Here, we report 2 children who had clinical features of severe @PHENOTYPICFEATURE$ epilepsy of infancy without mutations in the SCN1A gene who were found to have mitochondrial DNA mutations associated with @DISEASE$.	false
+d029ad3ad32c545e3c6471a893e0fe99050f857e	Moderately deleterious nucleotide substitutions are more recent and cause maternally-inherited diseases such as @DISEASE$ (LHON) and @PHENOTYPICFEATURE$ Epilepsy and Ragged-Red Fiber Disease (MERRF).	false
+6f0d832d4ba5273f2a979d37d651a9ff619c065c	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), @DISEASE$ (LHON), the syndrome of neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+c22cb4fc911add7d0e94396eaebac4d288368ece	There are several diseases that have a mitochondrial origin such as chronic progressive external ophthalmoplegia (CPEO) and the Kearns- Sayre syndrome (KSS), myoclonic epilepsy with ragged-red fibers (MERRF), mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS), @DISEASE$ (LHON), the syndrome of neurogenic @PHENOTYPICFEATURE$, ataxia and retinitis pigmentosa (NARP), and Leigh's syndrome.	false
+d4d8004a034c0dbfe3a204132ee1a912fef9c494	In single cases with Leigh's syndrome, MERRF (@PHENOTYPICFEATURE$ epilepsy and ragged-red fiber) syndrome, @DISEASE$, and Friedreich's ataxia anemia has been described.	false
+0bccfc67938d528f6dca2a70b1df1eb8c338cfcf	This could explain why optic neuropathies typically occur in primary inherited mitochondrial diseases such as @DISEASE$, @PHENOTYPICFEATURE$ epilepsy with ragged red fibres (MERRF), and Leigh's syndrome.	false
+913b565c203817eb2241a233536f97597fcc1ffb	However, the investigation of the mtDNA mutations found in classic mt disorders (mt encephalomyopathy with lactic acidosis and stroke-like episodes, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, Kearns-Sayre syndrome, and @DISEASE$) has not demonstrated any association.	false
+844833bc557cc4ad8aa0887acec916152a423021	Adaptor protein 4 (@DISEASE$) deficiency disorders should be suspected in children with spastic paraparesis, @PHENOTYPICFEATURE$ and absent speech accompanied by suggestive MRI features.	false
+0d94a45cfefffda8a03690c097913fa7b60b2879	@DISEASE$ is an autosomal-dominant chondrodysplastic condition characterized by disproportionate dwarfism, short trunk, small pelvis, kyphoscoliosis, @PHENOTYPICFEATURE$, prominent joints, premature osteoarthritis, and craniofacial manifestations.	false
+ef35f6a65c09e999b17cb5b9d2e3fa9ec2fafc1b	@DISEASE$ is characterized by marked @PHENOTYPICFEATURE$, hyperventilation episodes, and dysmorphic facial features.	false
+fbf81b57ceeadfd2ad292181c0c839ac5edeac7f	@PHENOTYPICFEATURE$ is prevalent in @DISEASE$ type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.	false
+b5eb40720a4b93cb63c578e3bb995aa279765f2c	Human G(salpha) mutant causes @DISEASE$ type Ia/neonatal @PHENOTYPICFEATURE$, a potential cell-specific role of the palmitoylation cycle.	false
+66a3b1ca8b6259bf7d348b5cccae9df91990f229	DACT2 was found frequently methylated in human @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1acb2bd9f7095d8146a0189264f5956ad7298c33	An 88-year-old woman, with a history of resection of stage IIA @DISEASE$ in 1998, was referred to our hospital in August 2010 complaining of upper @PHENOTYPICFEATURE$, vomiting, and dark brown stools.	false
+79b98b199bbfd0311ae2c66b9af1c11dc8efec28	An 88-year-old woman, with a history of resection of stage IIA @DISEASE$ in 1998, was referred to our hospital in August 2010 complaining of upper abdominal pain, @PHENOTYPICFEATURE$, and dark brown stools.	false
+5526c47097a3179d0d9741aabe78cd75a9a23756	[@PHENOTYPICFEATURE$?-?A novel complication of crizotinib treatment for @DISEASE$].	false
+5cc6eae899bb6c2dea37d677894281e90befb243	@PHENOTYPICFEATURE$ may mask or be the first sign of @DISEASE$.	false
+05a8ddc5a0dae508c416ca055f6e1ae7f8d91cf5	@PHENOTYPICFEATURE$ was present in all cases, and patient history at the time of admission revealed 14 conditions, of which 25% were @DISEASE$.	false
+3b872688c22113feebe95bf7f0b9686c5c93dfff	Salmonella enterica @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+6abd8d794d74ff4d6cc3d2ff02a109630a868751	Changes in quality of life, @PHENOTYPICFEATURE$ scores, and lung function in @DISEASE$ patients with airway obstruction after a therapeutic bronchoscopy.	false
+23d08960289cb9e757047e430932c4b644e5c08f	In the second case, we describe a 79-year-old Caucasian woman with a history of metastatic @DISEASE$ who presented with abdominal pain, nausea, @PHENOTYPICFEATURE$,?and bloody diarrhea.	false
+226ecd952238ad7166512ad670e33a45b7f04d6f	In the second case, we describe a 79-year-old Caucasian woman with a history of metastatic @DISEASE$ who presented with @PHENOTYPICFEATURE$, nausea, vomiting,?and bloody diarrhea.	false
+d8a48e0fdf3583ac9c319f450a22dc81676a08b6	[Radiotherapy of @DISEASE$ and metastatic @PHENOTYPICFEATURE$].	false
+1fa69c2c171b4273892915a8e43d68d8830ba70a	Our understanding of genomic @PHENOTYPICFEATURE$ in @DISEASE$ is largely based on the analysis of early-stage surgical specimens.	false
+1a4bc6d68746ea75047dc0c7959d414c7ea0eca4	gamma-Beam therapy of combined radiation therapy are frequently followed by @PHENOTYPICFEATURE$, caused by a @DISEASE$ recurrence or pelvic postradiation fibrosis.	false
+a6d822c30f69c4c81da044402df101be13ceb62a	Our patient was referred for treatment of a brain lesion on the background of known metastatic @DISEASE$ to the lungs and new onset @PHENOTYPICFEATURE$ activity.	false
+c8747b29df44f2887338f14b78a6569055b6f551	Carcinoma @PHENOTYPICFEATURE$ with uterine @DISEASE$ is an extremely rare event.	false
+8eefcf69f07665781525eca62a1c162c264600ca	This patient had extensive @DISEASE$ with positive pelvic and para-aortic lymph nodes, unilateral @PHENOTYPICFEATURE$, and cancer growing through the posterior culde-sac into the pelvic peritoneum.	false
+58d87f77daf6cec10384731be9b7d00e9535a77f	We present here the first known case of anti-Hu seropositivity, @PHENOTYPICFEATURE$, and sensory neuropathy in association with @DISEASE$.	false
+a3bf331873dcd3617dc3ef17a6a32e9f730a8968	A patient with @DISEASE$ had renal failure secondary to bilateral @PHENOTYPICFEATURE$.	false
+6788cd14f50dff58b8e36dffd1239470e41d57b1	The purpose of this study was to examine the combination of @PHENOTYPICFEATURE$ status and rurality in association with receipt of breast and @DISEASE$ screening among women age 18 to 64 in the United States.	false
+9571f339b4cf47e74535c21c9a52b73856f243d6	Based on gene selection, we identified promising pairs that exhibited evidence related to several important diseases, e.g., inflammation, lipid metabolism, inborn errors, xanthomatosis, @PHENOTYPICFEATURE$, cognitive deterioration, malignant neoplasms of the skin and @DISEASE$.	false
+caa0e9e70a667b5f53780edae983656ca416ddcd	We found that the combination of @DISEASE$ and DZP yielded a synergistic effect, shortening @PHENOTYPICFEATURE$ durations and reducing neuropathology compared to DZP alone, when treatment was delayed 20-30min after seizure onset.	false
+db99cadb455fe92d7d60b537d3889568cc9a7f4b	We found that the combination of @DISEASE$ and DZP yielded a synergistic effect, shortening seizure durations and reducing neuropathology compared to DZP alone, when treatment was delayed 20-30min after @PHENOTYPICFEATURE$ onset.	false
+8bb2965963f0d0187a57d1c0d9a735f51ea0ca53	PHY reduced the number of animals that developed @PHENOTYPICFEATURE$, protected a fraction of AChE from GD inhibition, and attenuated post-exposure body weight and temperature loss independent of @DISEASE$ and/or DZP treatment.	false
+0f88d1ab38acaa01eb41771168f51e6a6809bea4	Although conventional diffusible antiepileptic drugs do confer @PHENOTYPICFEATURE$ protection when administered locally by @DISEASE$, the effect is transitory.	false
+a60af7f10a38287647bfe18c56fb7131a3e1c42f	@DISEASE$ is a potential approach for @PHENOTYPICFEATURE$ protection that could represent an alternative to resective surgery in the treatment of focal epilepsies that are resistant to orally-administered antiepileptic drugs.	false
+320d4cce03e1c1832d4ece5bc1cc0122e4e550aa	In this phase 1 clinical trial, 3 adult patients with DRE underwent @DISEASE$ into the @PHENOTYPICFEATURE$ focus of artificial CSF vehicle followed by muscimol for 12 to 24 h each using a crossover design.	false
+65ed9e7017c35404ea19e42d2bd361cad6aa5672	We examined the efficacy of the NMDA receptor antagonist caramiphen edisylate (@DISEASE$; 20mg/kg, im) and DZP (10mg/kg, sc), administered both separately and in combination, at 10, 20 or 30min following @PHENOTYPICFEATURE$ onset for attenuation of the deleterious effects associated with GD exposure (1.2 LD(50); 132?g/kg, sc) in rats.	false
+ca3c074130e4bf1019fc4651f572d9822132ea29	Machado-Joseph disease (MJD) or @DISEASE$ (SCA3) is a rare and @PHENOTYPICFEATURE$ disorder, as well as the most frequently inherited spinocerebellar ataxia.	false
+656369abbc5cc57ac2e159d4c9c2c8b94c4a5b99	Machado-Joseph disease (@DISEASE$) or spinocerebellar ataxia type-3 (SCA3) is a rare and @PHENOTYPICFEATURE$ disorder, as well as the most frequently inherited spinocerebellar ataxia.	false
+949c57c4658d2c69c556f19705558c4b975c4272	@DISEASE$ (MJD) or spinocerebellar ataxia type-3 (SCA3) is a rare and @PHENOTYPICFEATURE$ disorder, as well as the most frequently inherited spinocerebellar ataxia.	false
+d5d7a83de6c580bb14e85811c49c4876c83c773f	Schwann cell involvement in the @PHENOTYPICFEATURE$ of @DISEASE$.	false
+daa3e009544a8699c368cb426d13462c9d6208f7	Machado-Joseph disease (@DISEASE$) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and @PHENOTYPICFEATURE$.	false
+943998b8e3129174362fe8c4d16a6fc4da0ed08a	@DISEASE$ (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and @PHENOTYPICFEATURE$.	false
+67556e2e127dd3630904d556b9eded814fc69a6f	@DISEASE$ or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, @PHENOTYPICFEATURE$, pyramidal dysfunction and movement disorder.	false
+33f5f4a5a2dfe63868a10ea5a811b2af5ce41471	Machado-Joseph disease or spinocerebellar ataxia 3 (@DISEASE$/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, @PHENOTYPICFEATURE$, pyramidal dysfunction and movement disorder.	false
+6d37bd5fb90044a5805183bf58b0dca35047057f	Machado-Joseph disease or @DISEASE$ (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, @PHENOTYPICFEATURE$, pyramidal dysfunction and movement disorder.	false
+e6846dff0b7210a7525c3dc613227c03d9838fc2	Prospective study of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2c787ba8ce824336e4187d564267d22b8ed5bb26	@PHENOTYPICFEATURE$ of @DISEASE$ in Taiwan: a morphometric and genetic study.	false
+fa289ec6f6a2c932c728243c7b4fa3087989681a	@PHENOTYPICFEATURE$ (PN) has long been recognized in Machado-Joseph disease (@DISEASE$), but its natural history is an unsettled issue.	false
+218cf09e607b76a7c4c250b51fd465f798c854e7	@PHENOTYPICFEATURE$ (PN) has long been recognized in @DISEASE$ (MJD), but its natural history is an unsettled issue.	false
+6a119a1ac6722644d309ab4293539096f0f9a06f	The @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7d0d5454da8d48f5ee212cb73aefe03060c859fe	In addition to @PHENOTYPICFEATURE$, in particular RBD, psychiatric symptoms may be important clinical features in both heterozygous and homozygous @DISEASE$.	false
+7535e0df9ebcb6a2ffa23730c6950735c0691355	@PHENOTYPICFEATURE$ is a common extracerebellar manifestation of @DISEASE$ (SCA3).	false
+7951a4cf46dbbfa4d79eddf16f81870e0d7e483e	Trisomy of chromosome 8 (@DISEASE$) is a rare chromosomal abnormality associated with retarded psycho-motor development, @PHENOTYPICFEATURE$ and other structural anomalies.	false
+2d29c4d86d79ccd0230c2ae0efb0b9c7ea9c1f45	Compared with investigations in other countries, this Finnish series differs in the incidence of familial cases and congenital cytomegalovirus infection, and especially in the higher incidence of neonatal @PHENOTYPICFEATURE$ and the lower incidence of @DISEASE$.	false
+ff3e045e2e26c12ee394b5f92b53c3ec0ce9db19	Epileptic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+08d3771eda5eab92652b62e7c87b340907240cdc	@DISEASE$ associated with spontaneous @PHENOTYPICFEATURE$.	false
+a0b62acd87a08475cf23ea50b835ac3f018d149e	We describe a case of an insulinoma presenting with falls and confusion in a patient with @DISEASE$, demonstrating the importance of early @PHENOTYPICFEATURE$ identification and a potential shared molecular pathogenesis.	false
+3180fe0b7c2a7ee31b8348d6017d66b34bc6f0c5	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (@DISEASE$), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+cce03d33812f653b3a9a01046b3282a08eb09fcb	@DISEASE$ (TS) is an autosomal dominant disorder with a high rate of de novo @PHENOTYPICFEATURE$.	false
+3b2b8459b7d7230b92d6277bbd46610a4008b0c5	We report a 5-year-old girl who, during the evaluation of asymptomatic hypertension, was discovered to have bilateral @PHENOTYPICFEATURE$, coarctation of the abdominal aorta, renal cysts and typical skin lesions of @DISEASE$.	false
+f6b5876811e81625f5004ff3c5df555d1a866aae	A young woman with NDD due to a de novo @PHENOTYPICFEATURE$ in ARID1B now presented with a large renal (>?19?cm in diameter) and multiple hepatic angiomyolipomas (AMLs) but no other signs of @DISEASE$.	false
+723c215f8c586ec808e1557c475317efbf2cb4cc	He published approximately 100 works in the field of clinical neurology, neuropathology, psychiatry, and forensic psychiatry, His works on cortical presentation of the body scheme, hallucinations, @DISEASE$, pregnancy and multiple sclerosis, pathohistology of demyelisation, toxic neuritis, epilepsies, nervous manifestations of Malta @PHENOTYPICFEATURE$, herpetic infections, pathogenesis of convulsive syndromes, psychiatric terminology, therapies of Parkinson disease and schizophrenia, ability of making will, organization of the psychiatric service, were published in national and prestigious European journals, and often cited.	false
+d9fa0a6dd6a3b2291d614bbe9da9fcd6ee7dc29a	Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmentation (including melasma), hypopigmentation (including oculocutaneous albinism [OCA]), and mixed hyper-/@PHENOTYPICFEATURE$ (including @DISEASE$).	false
+5a16f0b921c0f8a99208b5ea133d3010914f0bee	Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmentation (including melasma), @PHENOTYPICFEATURE$ (including oculocutaneous albinism [OCA]), and mixed hyper-/hypopigmentation (including @DISEASE$).	false
+9091ace20fe9e86c1e5a867a110cced1595fb214	Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmentation (including melasma), hypopigmentation (including oculocutaneous @PHENOTYPICFEATURE$ [OCA]), and mixed hyper-/hypopigmentation (including @DISEASE$).	false
+b32b7a90db7766519965327488fd5353d9338202	Pseudo-trisomy 13 syndrome with upper @PHENOTYPICFEATURE$ and @DISEASE$ hypoplasia.	false
+73f0ad7bbbdc688d315748f8408524d72d34fd68	@DISEASE$, one of the hereditary diseases characterized by the presence of pigmented and hypopigmented spots on the extremities, was studied by the splitting dopa stain on the @PHENOTYPICFEATURE$ area.	false
+8e9cf74ca1362aaf62c581347e0454caa2dc8b1b	@DISEASE$, one of the hereditary diseases characterized by the presence of pigmented and @PHENOTYPICFEATURE$ spots on the extremities, was studied by the splitting dopa stain on the hypopigmented area.	false
+6904728d33d87a025873788a8a4aea0e5180f602	Re: Pseudo-trisomy 13 syndrome with upper @PHENOTYPICFEATURE$ and @DISEASE$ hypoplasia.	false
+c65a28b136e412a7b97bd3f52411fb67c590cbf5	We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper @PHENOTYPICFEATURE$, and @DISEASE$ hypoplasia with normal chromosomes.	false
+af3f6fe0dac19797d95c7352048aaf8173536c7f	@PHENOTYPICFEATURE$ is a new abnormality associated with @DISEASE$, suggesting that CCA is clinically heterogeneous.	false
+89ce9c32f94d34534714e0d8d4b49355dfc3321f	These preliminary findings suggest that ATR might be beneficial in alleviating symptoms, in modulating cytokine and in inhibiting PIF proteolysis of @DISEASE$ @PHENOTYPICFEATURE$.	false
+e77b017f6b4eb95fb652188859bd21d0960e9084	Cancer @PHENOTYPICFEATURE$ is highly prevalent in @DISEASE$ patients and characterized by decreased food consumption and body weight.	false
+b3d7bde691c33eb82de35bbfb3ae827092ecf898	Metastasis-associated in @PHENOTYPICFEATURE$-1 in @DISEASE$: Beyond metastasis.	false
+f4f2b61e8ffa82e09fc26bdaef9ea85f098c936e	Evaluation of role of telmisartan in combination with 5-fluorouracil in @DISEASE$ @PHENOTYPICFEATURE$.	false
+13245e1ed4d9481c26d3f6a445cf1b03936883d7	So far, few works have been reported to provide a global overview of @DISEASE$ @PHENOTYPICFEATURE$ (GCC)-related metabolic changes.	false
+21858974636c2e94eda1db844ed65df399c3eeea	The method was applied to the assay of L-proline in whole blood and normal and malignant cell line lysates (normal cell (L929); @DISEASE$ cell-CAT 3, colon cancer cell-HCT, colon cancer cell-SW, and @PHENOTYPICFEATURE$ cell-MCF7).	false
+d1afa7d7052b3f63ca7fc688df724590fd4e0f4f	The method was applied to the assay of L-proline in whole blood and normal and malignant cell line lysates (normal cell (L929); @DISEASE$ cell-CAT 3, colon cancer cell-HCT, @PHENOTYPICFEATURE$ cell-SW, and breast cancer cell-MCF7).	false
+062b4260ff21591bba1956b67de0098d98aa7579	The method was applied to the assay of L-proline in whole blood and normal and malignant cell line lysates (normal cell (L929); @DISEASE$ cell-CAT 3, @PHENOTYPICFEATURE$ cell-HCT, colon cancer cell-SW, and breast cancer cell-MCF7).	false
+1f2c65d89b04c95badc2a0aaa53c3f10a3e0f25c	Human esophageal cancer, @DISEASE$, @PHENOTYPICFEATURE$ and liver cancer are common gastrointestinal malignant carcinomas in the world.	false
+360edb9e263bb26678dac67dc3c56221806dcbb9	Patients who have undergone surgery for @DISEASE$ may suffer from malnutrition and potential consequences such as gastrointestinal complications, surgical stress, and cancer @PHENOTYPICFEATURE$.	false
+000b86961a226fac2b014539d6537f22165d7fe5	Recent studies mainly focused on its role in @PHENOTYPICFEATURE$ and hepatocellular carcinoma; however, little is studied in @DISEASE$.	false
+22ead3e340ca17fd70809f38d19cb2d8322072e0	@PHENOTYPICFEATURE$ heterogeneity between primary @DISEASE$ and their matched lymph node metastases.	false
+cc06be542d363aced34cc6cda8568de89a8eddfe	We conclude that @DISEASE$ should be suspected in patients with @PHENOTYPICFEATURE$ and interstitial pneumonia.	false
+c620cea0fa9f840eaa6b0c9fcc4631aedd5650cd	@DISEASE$ is characterized by oculocutaneous @PHENOTYPICFEATURE$, a platelet storage pool deficiency, and ceroid lipofuscinosis.	false
+f01e05d994698090a7fda684414194bd22e67222	@DISEASE$ patients have oculocutaneous @PHENOTYPICFEATURE$, bruising, and bleeding.	false
+7f69e1b66fea919f0cddbdbb239bf234e4651748	@DISEASE$ is an autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$ and prolonged bleeding.	false
+6e61742ff6430cbb8f0f9132ed09f6a2128a1538	It is characterized by cutaneous @PHENOTYPICFEATURE$, immunodeficiency, and @DISEASE$.	false
+31ab10440d269248d6b284fb0505fd5d976c7215	All patients had cutaneous @PHENOTYPICFEATURE$, bleeding diathesis and various systemic manifestations as part of @DISEASE$.	false
+225090c03893e7822fefe831c2d6b828e117c2ae	The most prevalent type of @PHENOTYPICFEATURE$ was the Hermansky-Pudlak syndrome (@DISEASE$).	false
+feb71e291fe79df79da50660c9ea07630d24a404	We report on two Turkish brothers showing typical @DISEASE$ phenotype comprising oculocutaneous @PHENOTYPICFEATURE$ and bleeding symptoms.	false
+ae7e6fb6f988a49aaa0ea3729d6d17e2c0447393	Patients with @PHENOTYPICFEATURE$, especially before surgery, should be evaluated for @DISEASE$ to prevent life-threatening complications.	false
+d2d37c71b009ecf5372328d1814634a9ae78ce61	@DISEASE$ causes oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis and granulomatous colitis or pulmonary fibrosis.	false
+e199c62a597c301d77ee8a4864489b903880ca16	[Idiopathic @DISEASE$ (Clarkson disease) : A rare cause of recurrent life-threatening @PHENOTYPICFEATURE$].	false
+318d4353c2286172e6c08d4c65712ab1a1a43a61	[Idiopathic systemic capillary leak syndrome (@DISEASE$) : A rare cause of recurrent life-threatening @PHENOTYPICFEATURE$].	false
+c0ee8fad24ded3f751fb871849a3153fbae0b7a5	@DISEASE$ is a rare condition, characterized by hypotension, @PHENOTYPICFEATURE$, hemoconcentration and hypoalbuminemia.	false
+7d95ed9804e1f00a360b4a68e758693161360205	Systemic capillary leak syndrome (@DISEASE$) is a rare disorder with a high mortality rate, characterized by rapidly developing @PHENOTYPICFEATURE$, weight gain and hypotension, hemoconcentration and hypoproteinemia.	false
+952e9911d059a23e24badd7b53fcfb8e51a2aabd	@DISEASE$ (SCLS) is a rare disorder with a high mortality rate, characterized by rapidly developing @PHENOTYPICFEATURE$, weight gain and hypotension, hemoconcentration and hypoproteinemia.	false
+41dd88c7ca45309a4000c5db7740e83ce197a33d	The systemic capillary leak syndrome (@DISEASE$) is a rare condition characterized by unexplained episodic attacks of systemic capillary hyperpermeability accompanied by hypoalbuminemia, hemoconcentration and @PHENOTYPICFEATURE$.	false
+29946704254e643ad7d644624e7160d5c542961d	The @DISEASE$ (SCLS) is a rare condition characterized by unexplained episodic attacks of systemic capillary hyperpermeability accompanied by hypoalbuminemia, hemoconcentration and @PHENOTYPICFEATURE$.	false
+e19d2c81a9c32ec9cff1a21e03172108396d0b61	The capillary leak syndrome (@DISEASE$) is a rare condition characterized by the onset of hypotension, @PHENOTYPICFEATURE$, hemoconcentration and hypoalbuminemia.	false
+57b07efa1b5288371891d0af04b6c88cd962c2f0	The @DISEASE$ (CLS) is a rare condition characterized by the onset of hypotension, @PHENOTYPICFEATURE$, hemoconcentration and hypoalbuminemia.	false
+93c3e005c392ada884c5ff5235b30b8721181c28	Capillary leak syndrome (@DISEASE$) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic pulmonary edema, and hypotension.	false
+4045dc356ca0f444446c8c5271ff8959b44d4998	@DISEASE$ (CLS) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic pulmonary edema, and hypotension.	false
+ba7d785e16a39639c00305ec971c05f5082dc6f9	Adverse reactions included fevers, nausea, headaches, myalgias, hypoalbuminemia, dyspnea, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fa0197df147fc2eafc56aa942aeac3e604705ce8	Chemical lumbar sympathectomy (@DISEASE$) is a commonly used, minimally invasive procedure for the treatment of conditions including ischemic diseases of the lower extremities, @PHENOTYPICFEATURE$, etc.	false
+e896460f7547b016304635495b67084b6a048d1c	Systemic capillary leak syndrome (@DISEASE$) is characterized by recurrent hypovolemic shock associated with @PHENOTYPICFEATURE$, hemoconcentration and paradoxal hypoprotidemia due to leakage into the interstitial space.	false
+b878f5103e210632b76dd7ac0bfe2febcba8be0c	@DISEASE$ (SCLS) is characterized by recurrent hypovolemic shock associated with @PHENOTYPICFEATURE$, hemoconcentration and paradoxal hypoprotidemia due to leakage into the interstitial space.	false
+d2e365da86c59f462c88fb890994b75f78d63093	The ratio can measure objectively the @PHENOTYPICFEATURE$ and the @DISEASE$ in PN.	false
+83e935a0ed3ec5ef401691c15af6bb57c03beee2	@DISEASE$, cervical carcinoma, and hepatocellular carcinoma are associated with Epstein-Barr, human @PHENOTYPICFEATURE$, and hepatitis B virus infections, respectively.	false
+6417d9adc7ea8435fbbde018f8e3a0fdb2181efd	Search on the Net was performed for free text definition for some commonly used medical categories, like '@PHENOTYPICFEATURE$', '@DISEASE$' and 'disease'.	false
+d74e030480152d41cf8d03a5b97a550f387a2294	Although the typical picture is the @DISEASE$, hyperprolactinemia may be revealed by many other features, including @PHENOTYPICFEATURE$, hirsutism and sterility.	false
+0802bc53bc6ff5ef76a9471cbba5ff10d7ed5337	Screened for by all state newborn screening (@DISEASE$) programs in the United States, mitochondrial acetoacetyl-coenzyme A thiolase (T2), or ?-ketothiolase, deficiency is a rare autosomal recessive disorder that causes ketoacidosis and @PHENOTYPICFEATURE$/hyperglycemia.	false
+c751c10f9043a08fe0951aedf33bff65c2cf1408	Screened for by all state newborn screening (@DISEASE$) programs in the United States, mitochondrial acetoacetyl-coenzyme A thiolase (T2), or ?-ketothiolase, deficiency is a rare autosomal recessive disorder that causes ketoacidosis and hypoglycemia/@PHENOTYPICFEATURE$.	false
+e67fb8dffb64e11229950f6bb4e9419f7baef0ad	A case report of a patient with microcephaly, @PHENOTYPICFEATURE$, chromosomal radiosensitivity and telomere length alterations closely resembling "@DISEASE$" phenotype.	false
+f0c6119e7be48c68a59fbed055a14b0ffe71d34f	Primary ovarian insufficiency and the associated @PHENOTYPICFEATURE$ are hallmark manifestations in girls and young women with @DISEASE$.	false
+4d64187e6872d968f30422c78d2dbcdf9b8b2d10	Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), @DISEASE$ (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+34490c4e9dba710bf83e271ae31943d8c3875942	We report on a previously apparently undescribed @DISEASE$-like self-limited autosomal recessive disorder with onset in infancy and running its course by 11 yr in five sibs in a Kirghizian family with recurrent skin ulceration, arthralgias, @PHENOTYPICFEATURE$, fistulous osteolysis around joints, oligodontia, nail dystrophy and keratitis with visual impairment or blindess in three of the five affected sibs.	false
+dc9d499264c0146cad0c184fa26d3c50dcd19f62	We describe the case of a 37-week-old, small-for-gestational-age, white baby girl born with @DISEASE$ (BGS), with craniosynostosis and partial absence of the corpus callosum, absent radius, and @PHENOTYPICFEATURE$.	false
+b59ae97518f84338e276fb936308674bf6685b6f	A 15-year-old male of Puerto Rico ancestry with history of @DISEASE$, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without @PHENOTYPICFEATURE$.	false
+66a743bac96fd7dd46a0fadc560cd191c0d277ad	At 6?years of age, he was readmitted to our department because of persistent vomiting and @PHENOTYPICFEATURE$, and @DISEASE$ was diagnosed again.	false
+95cad6fc4ce88988d9f5be09abc0be961f1c8c8a	Remarkably, knockdown of @DISEASE$ genes in zebrafish causes glomerular injury with @PHENOTYPICFEATURE$, proteinuria and structural changes of the glomerular filtration barrier.	false
+90197f4abed02fe96bb5fa9cd59c6bd0c3cc7b37	Taken together, our findings indicate that stress is a most likely trigger of @PHENOTYPICFEATURE$ in broilers, whereas the pathological changes seen in the myocardium and in the @DISEASE$ in fast growing broilers provide a very conducive milieu for sustained ventricular arrhythmia.	false
+9c760b9a00391869d120443520152ea5a5a70115	No significant relationship was found between @DISEASE$ and splenomegaly, ascites, @PHENOTYPICFEATURE$, jaundice, oliguria, and collateral veins.	false
+c880065f462afafe178d73c68ec31e63813b71b6	Pulmonary histopathological features were similar in most of the fatal @DISEASE$ cases (40/44) and consisted of an interstitial pneumonitis with a variable mononuclear cell infiltrate, @PHENOTYPICFEATURE$, and focal hyaline membranes.	false
+0b7a0982c72636628cc7ea5bdf4f6d0b1b11fbcf	An association of @DISEASE$ and @PHENOTYPICFEATURE$: a case report.	false
+62a3b42c45f7ee19fe52cb8a15b5c9890baa580c	@DISEASE$: a further report of a case with bifid nose, lipoma, and @PHENOTYPICFEATURE$.	false
+578e41ba20080633bd003c1835fbec7ba726013c	@DISEASE$: first patient with @PHENOTYPICFEATURE$ and literature review.	false
+59fc9f2b97b2dd775f37424281b05ab75c5cc786	Using a next-generation sequencing approach, we identified mutations in a novel centriolar disease gene in a kindred with an embryonic lethal @DISEASE$ phenotype and in a patient with primary @PHENOTYPICFEATURE$.	false
+85c1788f091ed8494ed44db9f285612599192c53	In our search for novel ciliopathy-linked genes through the study of unmapped ciliopathy phenotypes, we have identified two simplex cases with a severe @DISEASE$ phenotype consistent with oro-facio-digital syndrome type IX featuring midline cleft, @PHENOTYPICFEATURE$, and colobomatous microphathalmia/anophthalmia.	false
+239bc301594390718efae68dbb5ad08a9eaefd03	Our data identify CENPF as a new centriolar disease gene implicated in severe human @DISEASE$ and @PHENOTYPICFEATURE$ related phenotypes.	false
+8bb1e48b161feba98bf5a70725766fd0e32aaa99	The kinetochore protein, CENPF, is mutated in human @DISEASE$ and @PHENOTYPICFEATURE$ phenotypes.	false
+b1b77f7ae0e2b4ac2178140d205d782af29e9a25	Erratum: The kinetochore protein, CENPF, is mutated in human @DISEASE$ and @PHENOTYPICFEATURE$ phenotypes.	false
+bdbe4b774a71c4a315853ebff8191740c6f555e7	Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.Apple peel syndrome with microcephaly and ocular anomalies.@DISEASE$ phenotype.Primary @PHENOTYPICFEATURE$ and intellectual disability.OMIM# of the disease 243605.Name of the analysed genes or DNA/chromosome segments CENPF.OMIM# of the gene(s) 600236.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in CENPF genes in diagnostic, prenatal settings, and for risk assessment in relatives.	false
+e1c80c0e2727ff30ae9cb0482a50707f4983f5bd	Polymyositis and @DISEASE$ are characterised by @PHENOTYPICFEATURE$ and fatigue even in patients with normal muscle histology via unresolved pathogenic mechanisms.	false
+82d5c753c2571981300ea2741fa53e32f4649026	['Difficult' children with @PHENOTYPICFEATURE$; the importance of early diagnosis of @DISEASE$].	false
+582fa9c5313ff17a00646c0a8b9c421031c2d3f8	Correlation between tests of muscle involvement and clinical @PHENOTYPICFEATURE$ in polymyositis and @DISEASE$.	false
+b6fb0d45f6922d2d8d6205e373792ae845c3e609	@DISEASE$ is a rare inflammatory myopathy with characteristic skin manifestations and @PHENOTYPICFEATURE$.	false
+f5e28d277b17088c8f02cade61a6942b092a7e2c	The patient presented to the hospital with @PHENOTYPICFEATURE$ and erythema and was diagnosed with @DISEASE$ from skin biopsy.	false
+db743f7bfff3a54bc5dd61e83cb6b3a65d57e1cd	Bilateral @PHENOTYPICFEATURE$ and duodenal perforation in a patient with @DISEASE$.	false
+e6aa77a8599e24c1dbe12b02880cf008caaec7c6	A retrospective review of 50 patients with @DISEASE$ was performed to determine the temporal relationship between onset of @PHENOTYPICFEATURE$ and skin involvement.	false
+11292f712d78920170c0f41e8f99b34b71675755	Calciphylaxis mimicking @DISEASE$: ischemic myopathy complicating @PHENOTYPICFEATURE$.	false
+82d5c753c2571981300ea2741fa53e32f4649026	['Difficult' children with @PHENOTYPICFEATURE$; the importance of early diagnosis of @DISEASE$].	false
+4bd6bbb8e8f675e841638c267b5f2018e476a950	@DISEASE$ is a chronic inflammatory disorder of muscles and skin, presenting with @PHENOTYPICFEATURE$, characteristic rash, and classic serology findings.	false
+5bfad6e7d0edc2e2ca618c89f91fe17468069344	Incidental 11C-choline PET/CT brain uptake due to @DISEASE$ in a patient studied for @PHENOTYPICFEATURE$: correlation with MRI and imaging fusion.	false
+ed66030f227fc7f68318df1d3c2a692f9571b821	A 10-year-old boy presented with an intraparenchymal @DISEASE$, which had no attachment to the dura, manifesting as @PHENOTYPICFEATURE$.	false
+10a16eebc93ec9c00218ad4ce5cb6293f8a1c9d6	Two intraparenchymal @PHENOTYPICFEATURE$ exhibiting the histopathologic and immunophenotypic characteristics of an @DISEASE$ are presented.	false
+50060497bbfea6240d79ac6db83b363043e3a8ad	A solitary subpleural @PHENOTYPICFEATURE$ having the light- and electron-microscopic appearance of a typical @DISEASE$ is described.	false
+fea2a5a7fac7be6144d2a6247d087348a00d001c	Herein, we report a 38-year-old male presenting with @PHENOTYPICFEATURE$ and radiological findings indicative of @DISEASE$.	false
+5aac61a29d8aba4e5504ddf567fc0f64323c6ab2	A 68-year-old patient presented with headaches, @PHENOTYPICFEATURE$ in the left eye and ipsilateral eyelid droop 3 years after a Simpson II resection of a left sphenoid wing @DISEASE$.	false
+b3928c99e53e71e3d6368f5beb1188173f0ef54a	An intraparenchymal @PHENOTYPICFEATURE$ exhibiting the histopathologic and immunophenotypic characteristics of an @DISEASE$ is described.	false
+0d81d0f5dd16573e7dbab86ebd196d91e032e70b	We look at a 68-year-old woman presenting with @PHENOTYPICFEATURE$, who had previously been treated for an @DISEASE$ with a ventriculo-peritoneal shunt in situ.	false
+250d48362c7c504d84547fa062acae4616db97cc	A 1-year and 10-month-old girl presented with an intraparenchymal @DISEASE$ in the left frontal lobe manifesting as @PHENOTYPICFEATURE$.	false
+bf7f3641c7fc3af5fa1bfd1f074f39eb4e65b59e	@PHENOTYPICFEATURE$, smoking, and obesity were not significantly associated with @DISEASE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+ab5e35d2b4f4a896e31bf7954bb998fbf2ed9fb3	[@DISEASE$ @PHENOTYPICFEATURE$ (polyneuritis arsenicosa)].	false
+8ff40db7b94a85fce95153dce6efd67068e3cdb6	We present the successful use of interferon alfa-2a in a series of five patients with massive hemangiomas complicated by airway compromise, congestive heart failure, need for tracheotomy, @DISEASE$, and @PHENOTYPICFEATURE$, despite traditional therapy.	false
+a18dbf5f26d03381591c3a0e3e8cc27c38a6890e	Patients with intractable @PHENOTYPICFEATURE$/gut-related sepsis that needed surgical intervention or resulted in mortality were in severe @DISEASE$ group.	false
+3f1cdff09a1aa95687eaee0e3efd86207611e5e1	Risk for @DISEASE$ and @PHENOTYPICFEATURE$ deserves clinical attention during antipsychotic treatment among preschoolers.	false
+3640cdf7f7a20f8563b7fad3c40fc6e4b064df56	Among 8713 patients admitted with ventricular tachycardia or @PHENOTYPICFEATURE$, 29% (n = 2508) had a subsequent @DISEASE$ procedure, and 9% (n = 818) had an ICD implanted.	false
+8259d74fdf6be7b6f44365d65840241a4ac8ea5e	In patients with @PHENOTYPICFEATURE$, future arrhythmic events could be predicted by @DISEASE$ and Holter ECG.	false
+9658bf516e906d60516e5f69e23ef60716b75cde	To stratify the risk in patients with type 1 pattern, three major factors have been suggested: typical ECG pattern in the basal state; a history of syncope; and inducible ventricular tachycardia/@PHENOTYPICFEATURE$ during electrophysiological study (@DISEASE$).	false
+916f65855c4f4cc1386df39b8630978438b6701b	@DISEASE$ was more effective in patients with sudden @PHENOTYPICFEATURE$ than in those with presbycusis.	false
+c24efa4754744dcce9b6da0bffba17c76002e742	22 C-WPW (C), 20 AV nodal reentrant tachycardia (A), both diagnosed by @DISEASE$ and 100 control subjects (N) who have no evidence of pre-excitation and no @PHENOTYPICFEATURE$ episodes were compared.	false
+f01b2595d24829f20c66a5da45b1cf1ddf59ba50	Role of electrophysiologic study (@DISEASE$)-guided preventive therapy for the management of ventricular tachyarrhythmias in patients with @PHENOTYPICFEATURE$.	false
+609ebe5c0b7c092f576040977b43563dc5b8b51d	Seven consecutive patients, all asymptomatic with respect to @PHENOTYPICFEATURE$, were investigated by means of ECG, Holter monitoring, and invasive electrophysiologic studies (@DISEASE$).	false
+41ac5868b1a7d0957aea939ace97d615a7647e47	This case shows that juvenile-onset DM can occur simultaneously with @DISEASE$ and result in @PHENOTYPICFEATURE$, acute cataract formation and a high cortisol concentration.	false
+8d08cd6aa55ea3bdfecfbb7e153a256be4208dbb	Diffuse ground-glass opacity can result in a mosaic pattern related to a number of processes in acute (eg, infection, @PHENOTYPICFEATURE$), subacute (eg, @DISEASE$), or chronic (eg, fibrotic diseases) settings.	false
+a711a7a454ad94eab731704571eb7b61191cdb44	Drug-induced infiltrative lung disease may manifest as variable clinical radiological patterns, including subacute or chronic interstitial pneumonia, pulmonary fibrosis, eosinophilic pneumonia, @DISEASE$, @PHENOTYPICFEATURE$, or sarcoidosis.	false
+c0b05b6995b1e069db0e24bff59f5456cc54901c	We present a case of @DISEASE$ associated with lymphangitic spread of ovarian carcinoma in a 60-year-old Hispanic female with progressive dyspnea, hypoxemia, and bilateral @PHENOTYPICFEATURE$.	false
+9772a9d3e28eed9f29f57abd5ebeeeb1414bc720	These result either from bronchial reactions, asthma exacerbation or eosinophil bronchopneumonia, or alveolar involvement: intra-alveolar bleeding, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+669be251ec77d134baa4f3651f722189080bad9a	All had undergone computed tomography and had tissue-based diagnoses: 22 had adenocarcinomas, 12 had squamous cell carcinomas, 13 had other malignancies, 1 had @DISEASE$, 1 had a @PHENOTYPICFEATURE$, and 13 had granulomas.	false
+70a31987429d41d303540f9d017f2004e1fa1173	Acute and chronic uses also are responsible for lung complications, such as @PHENOTYPICFEATURE$, alveolar hemorrhage, pulmonary hypertension, @DISEASE$, emphysema, barotrauma, infection, cancer, eosinophilic disease, and aspiration pneumonia.	false
+e1f0bd8d5313d41333c703038569b58aa5833ead	Lung injury caused by chemicals includes bronchitis, bronchiolitis, chemical pneumonitis, @PHENOTYPICFEATURE$, acute respiratory distress syndrome, @DISEASE$, hypersensitivity pneumonitis, acute eosinophilic pneumonia, and sarcoid-like granulomatous lung disease.	false
+9f40ea65cf0f551da55a9a49e917adf51a1acac8	In this report, we also reviewed eight other cases of @DISEASE$ with @PHENOTYPICFEATURE$ or cyst formation.	false
+b963b7fb015b23a3aa2011ba1c8cfb7186169320	The diagnosis in such cases is not always metastatic disease, and the differential diagnosis should include granulomatous disease, atelectasis, pneumonia, inflammatory pseudotumor, @PHENOTYPICFEATURE$, radiation pneumonitis, and bronchiolitis obliterans with @DISEASE$.	false
+cc0c97ad09ecbc114f446f88d0322ef852277375	Five of them were histologically a focus of fibrosis and the other 3 were localized @PHENOTYPICFEATURE$, @DISEASE$, or atelectasis without fibrosis.	false
+efb262c9c1fcdd9f9c4093f3c7f05f8135801756	Association of @DISEASE$, beta c, alpha thalassemia and @PHENOTYPICFEATURE$.	false
+aa0e6bae21859b47d3bacac756e4e016fec7d58a	LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, myoadenylate deaminase deficiency, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, @DISEASE$, poliomyelitis, and Friedreich @PHENOTYPICFEATURE$.	false
+c551edb09880a0727a0d4c6dc136aec901b44b11	Case 2: A 10-year-old girl with @DISEASE$ treated with allogenic bone marrow transplantation developed acute headache, hypertension, severe visual impairment (light perception), @PHENOTYPICFEATURE$, and intermittent dysconjugate gaze.	false
+e118d8eaa0b6e65c011f75fc75b443a3c44ee756	We report a 19-year-old boy with @DISEASE$ who presented with a left @PHENOTYPICFEATURE$.	false
+4311848f298ba31ef1c88276fd1260c0df5d71d8	We propose Vimang as a potential therapy against the deleterious action of reactive oxygen species generated during iron-overload, such as that occurring in diseases like @DISEASE$, Friedreich's @PHENOTYPICFEATURE$ and haemochromatosis.	false
+611dad50afeed66cc1dbaa9e8c7fd8110b5e8173	The cardiac involvement of @DISEASE$ causes progressive @PHENOTYPICFEATURE$ symptoms and is a life-threatening condition; thus, an early and appropriate diagnosis of this condition is crucial.	false
+06fd557dccb77cb222f7996e680c0c159bce3a9c	Neurological disorders, @PHENOTYPICFEATURE$, secondary hypogonadism, and thirst as a result of diabetes insipidus, dominate the clinical picture of hypothalanmic @DISEASE$.	false
+45d55a83202ccb6b3abd62151ada66b082731505	The clinical features of @DISEASE$ heart disease include @PHENOTYPICFEATURE$, arrhythmias, conduction disturbances, and sudden death.	false
+4e93f77d95a859b2e9e22f043532c049c3b1aca9	We report the case of a 41-year-old New Zealand European female who presented with acute @PHENOTYPICFEATURE$ as the first manifestation of systemic @DISEASE$.	false
+606f6e79729e002203d655f6fc3172bd5839d50b	Contrast-enhanced lung MRI with fast imaging sequences is a highly sensitive imaging modality and comparable with CT in evaluating both lung and @PHENOTYPICFEATURE$ in pediatric @DISEASE$.	false
+4802dd5f65832fce0812c38ab860903fbacc14a1	@DISEASE$ encephalopathy with diffuse inflammation and focal @PHENOTYPICFEATURE$ shown by sequential CT.	false
+6854dea5f7ecf80a70a52ae08739927596884a84	The prognosis of @DISEASE$ @PHENOTYPICFEATURE$ is usually poor in spite of corticosteroid therapy.	false
+f42f40d83d107056cf511d14ae384feca5cf8bf0	Systemic @DISEASE$: a case with a focal @PHENOTYPICFEATURE$ and elevated lysozyme and angiotensin-converting enzyme in the cerebrospinal fluid.	false
+9de26bac39282df3f22ef94c891524c891722ec0	@DISEASE$ and @PHENOTYPICFEATURE$: twin problems for the patient.	false
+2710812afdd0541f29a8adcfe140449f07d5b13d	We describe a female patient with systemic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2f6ae4efef304f0a3c32f9b039bab953d68ee5df	The original triad of signs, multiple nevoid basal cell carcinomas, jaw cysts and skeletal anomalies, has been greatly expanded to include @PHENOTYPICFEATURE$, @DISEASE$, lymphomesenteric cysts, medulloblastoma and a whole host of minor and occasional (but valid) associated anomalies.	false
+a6b433abf95307440421787d41cbbc0403ec453d	We present the case of a 22-year-old Caucasian woman with a unilateral @DISEASE$, falx @PHENOTYPICFEATURE$ and odontogenic keratocysts, but without any skin manifestations.	false
+6d07803500f924580e7d664e6900cc4bf1267630	The MOE should be differentiated from ovarian fibromatosis, @DISEASE$, sclerosing stromal @PHENOTYPICFEATURE$ and ovarian myxoma.	false
+15b38da67c816cfb4db9a6c47d8c507a29b6c783	The cellular subtype accounts for around 10% of @DISEASE$ @PHENOTYPICFEATURE$.	false
+c9b43a898803ea6c057fdbe35aa9755aff1c0904	Pseudo-Meigs syndrome is an unusual condition involving pelvic @PHENOTYPICFEATURE$, excluding @DISEASE$, and is associated with ascites and hydrothorax.	false
+88b373a5c1f8987033e9041f3d815322ece28c80	The classification of @DISEASE$ @PHENOTYPICFEATURE$ with high mitotic activity is controversial.	false
+323b4ab36823811d0e81bfec2af89d886640227a	The differential diagnosis includes @DISEASE$, thecoma, cellular fibroma and sclerosing stromal @PHENOTYPICFEATURE$.	false
+f80dacc477d2a361848dcc02e9a18ee0d7243b3c	On autopsy, the two @PHENOTYPICFEATURE$ were diagnosed as leiomyosarcoma and @DISEASE$, respectively.	false
+07a49fc3d864aaad5a241416bf2ec504aa95af06	10% of @DISEASE$ @PHENOTYPICFEATURE$ typically exhibit increased cellularity, mitotic activity, and less frequently nuclear atypia.	false
+0be4fa84d25245daf54fb073b362ec663d43377a	Mitotically-active cellular fibroma (MACF) is a rare form of @DISEASE$ @PHENOTYPICFEATURE$.	false
+df18dec5e6effe31f539625353057b36e56bbb6b	The purpose of our study was to evaluate the correlation between subcutaneous fat thickness around the knee joint on axial MRIs as a surrogate marker of @PHENOTYPICFEATURE$, with the presence or absence of @DISEASE$.	false
+a27de2aa55ab218c5f17ccd33157a58be2ba5f0d	Subcutaneous knee fat thickness as a surrogate marker of @PHENOTYPICFEATURE$ was positively associated with the presence and severity of @DISEASE$ on MRI.	false
+2b5e79fbf96dc99bf7538c7a2dfa2a6e5a78381a	The most common demonstrable causes of the disorder in this series were @PHENOTYPICFEATURE$, followed by chromosomal disorders, congenital malformations, @DISEASE$, and the twin-twin transfusion syndrome.	false
+a586ee57386fd391980cd332a9ae4d84c3e6cac5	While microcephaly, @PHENOTYPICFEATURE$, and retarded brain growth have been rarely reported in association with homozygous @DISEASE$, this is the first report of a true brain malformation in an affected fetus.	false
+3bdc16e8bed7ee50561abe2df0981eec4f865b78	Diabetic @PHENOTYPICFEATURE$ (DPN) is associated with inflammatory/immune processes and therefore, we hypothesized that neopterin could be used as a marker of neuropathy @DISEASE$ (T1DM).	false
+31c99053ef6ed38d13761a24ff65128e7cf75e65	@PHENOTYPICFEATURE$ and tear film dysfunction @DISEASE$.	false
+92514768221f52eddaeb65c9d193e78a7660431b	@DISEASE$ (LET) is a photosensitive skin disease characterized by succulent, @PHENOTYPICFEATURE$, and non-scarring plaques.	false
+3e270d483ec8715c2e606aefa2761bb207680bdd	@DISEASE$ (LET) is characterized clinically by erythematous, succulent, @PHENOTYPICFEATURE$, nonscarring plaques in sun-exposed areas.	false
+a304c06cea82d72701e08b9adb84851f1f24ea73	We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, @PHENOTYPICFEATURE$, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, @DISEASE$, and Pena-Shokeir syndrome.	false
+49276a0df5c28905656fc14efdd3c9dea623bf5a	@DISEASE$ type I with @PHENOTYPICFEATURE$.	false
+0cca35a94b070f737a205214e0e3019bb739c7ba	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), @PHENOTYPICFEATURE$, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral cataract.	false
+44c4da810c87d437516e07cb4b496ed1f457ae90	Gastric carcinoids are divided into three different types: Type 1, associated with gastric atrophy and @PHENOTYPICFEATURE$; Type 2, associated with @DISEASE$ within a type 1 multiple endocrine neoplasia (MEN); and Type 3, sporadic tumor not associated with other lesions, particularly invasive and with poor prognosis.	false
+bf7b69aeacacb0ac28cff54ea7aec8f6bc18c621	Amniotic band sequence (@DISEASE$) is a group malformation that mainly affects limbs; clinically, constriction rings and @PHENOTYPICFEATURE$ of the fingers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling.	false
+a71559a225a2387b9c68a8b862e4834a7b55e6de	In addition, erectile function was evaluated by the sexual health inventory for men (SHIM) score and vessels endothelial function and @PHENOTYPICFEATURE$ were assessed by the brachial-ankle pulse wave velocity (baPWV), ankle brachial index (@DISEASE$), and vibration perception threshold (VPT) at 0, 3, 6, and 12?months after treatment.	false
+b8c617b4f4da0f980637c8a51cce3aba95b69eef	Prenatal ultrasound at 23 gestational weeks demonstrated craniofacial dysmorphism, ventriculomegaly, @PHENOTYPICFEATURE$, and multiple visceral anomalies including cardiac defect, @DISEASE$, omphalocele, and urethral obstruction in the fetus.	false
+4ab6773017763f696290f38e232d0704cd661ce3	We emphasize that renal disease, learning @PHENOTYPICFEATURE$, behavioral abnormalities, epilepsy, autism, schizophrenia, structural brain abnormalities, facial dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects, and @DISEASE$.	false
+7c2c6b0cd9d5c0332fc2b467c7ee7b5662e5d8c3	Down syndrome (DS) is recognized by characteristic facial features, @PHENOTYPICFEATURE$, and an increased risk for cardiac malformations and @DISEASE$.	false
+eb5a5149179aaf004044cb9acc887eca34a1e11c	Common congenital anomalies associated with SMMCI are: severe to mild @PHENOTYPICFEATURE$, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and @DISEASE$, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia.	false
+04ac217477367a06aa066b31ba6f8e5341662da2	A statistically significant difference (p<0.01) was found in @PHENOTYPICFEATURE$, hypoplastic left heart syndrome, @DISEASE$/stenosis, diaphragmatic hernia and Down syndrome.	false
+4ea3f4e35fe60085c880488f9e9765906a7c07d4	Oculodigitoesophageoduodenal (ODED) syndrome (also known as "Feingold syndrome") is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning @PHENOTYPICFEATURE$, and esophageal/@DISEASE$.	false
+9b45065fb749e5ddd9cd76762f1e5d3bec0e3fd3	Moreover, some combinations of defects are not observed (eg, @DISEASE$ and @PHENOTYPICFEATURE$, clefts and diaphragmatic hernia, omphalocele and esophageal atresia/tracheoesophageal fistula).	false
+f97d11a8256fc703f0285f624d47a55d8025a783	Commonly reported CDs included Down syndrome, cleft lip and palate, @PHENOTYPICFEATURE$, @DISEASE$ and albinism.	false
+de4dca8ead84f82ba372f14d620cb184a4c0a87c	We recommend testing for the 22q11 deletion in patients with a @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fe6f22dd8d07d81100d6f828072cb24a31ea57f8	Testing should be considered in patients with a @DISEASE$ who have a first degree relative with a @PHENOTYPICFEATURE$ or have additional clinical findings of VCFS or DGS.	false
+5fc483823dcdfde37c50d000980ba9b9468c6677	@DISEASE$ and @PHENOTYPICFEATURE$ had significant associations with plasma tHcy.	false
+60393aaea46e0dad19c65d990349af214ab6fdd8	At birth, both twins had @DISEASE$, bilateral @PHENOTYPICFEATURE$ equinovarusdeformity, bladder and bowel dysfunction.	false
+690d26bd9f8694e4dc2fc15bba68e71a983b6bcb	The beneficial effect of additional folic acid in the periconceptional period to prevent @DISEASE$, orofacial clefts, and @PHENOTYPICFEATURE$ in the offspring has been shown.	false
+fd4387b9718898bc6e2b00b35629b1fd9ed5b53f	Malformations included heart and @DISEASE$, caudal regression, gastroschisis, @PHENOTYPICFEATURE$, anophthalmia, and craniofacial hypoplasia.	false
+99af639816b0b5932485dae40c25e9ce5b23d7f6	Malformations included @DISEASE$, @PHENOTYPICFEATURE$ and other minor anomalies.	false
+ec5fdf78f32706c415eb09912572214ec8f0f51f	Kousseff syndrome was originally described by Boris Kousseff in 1984: Pediatrics 74:395-398 in three siblings whose main features were @PHENOTYPICFEATURE$, @DISEASE$, and dysmorphic features.	false
+bf0a00208c4a9887c0905781e0e5352f07ec477e	@DISEASE$ (ARHR), which is characterized by renal phosphate wasting, aberrant regulation of 1alpha-hydroxylase activity, and @PHENOTYPICFEATURE$/osteomalacia, is caused by inactivating mutations of dentin matrix protein 1 (DMP1).	false
+52e947c40067fd84c917ad0b7adf6fa6447091c7	@DISEASE$: a rare @PHENOTYPICFEATURE$ requiring combined management.	false
+2120ab9a9641824fbd86cd758ddbd29499e454a2	Primary @DISEASE$ is a rare disease and it occurs in a low percentage of thyroid @PHENOTYPICFEATURE$.	false
+a25f7e2fe3493a172155379e39fcb9d977ecc256	We analyzed open biopsy in diagnosing primary @DISEASE$ (PTL) and @PHENOTYPICFEATURE$ management with compression symptoms and therapy.	false
+4a8106c233cd86e37dc04cd3f822ea6f18b9f8e7	The @PHENOTYPICFEATURE$ registry at the Penn State Milton S. Hershey Medical Center was searched for all patients carrying a diagnosis of @DISEASE$.	false
+7c58816da69164e2ceaf26185123a068ec54f9f2	Primary @DISEASE$ is a rare entity that requires adequate diagnosis and rapid initiation of treatment to reduce @PHENOTYPICFEATURE$ volume and to prevent airway compromise.	false
+2075e2c9715883f32baf100fb6a046b5476f21d2	Once the pathologic diagnosis of primary @DISEASE$ is established, imaging plays an important role in @PHENOTYPICFEATURE$ staging and evaluating treatment response.	false
+9b8004b0c0b6fdfed9b0d7ebc106810785e3f43d	Mucosa-associated lymphoid tissue @DISEASE$: a rare and not aggressive @PHENOTYPICFEATURE$.	false
+67f50ef2310876969db18285e49f9487ad3252c4	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ which requires prompt diagnosis and combined management for a high rate of cure to be achieved.	false
+4d7536416859fc5029eddc89bedf0ae53dbe6271	Primary malignant @DISEASE$--a @PHENOTYPICFEATURE$ of mucosa-associated lymphoid tissue: review of seventy-six cases.	false
+2b20faab42e9b7eb50bfc7ea207f00c0012befd6	Few studies on prognostic indicators for primary @DISEASE$ (PTL) have been presented due to the uncommon nature of the @PHENOTYPICFEATURE$.	false
+1899508e45c94888ef8c35ca392f1ded988213e4	Cranial MR imaging examination findings of a three and half year old boy with @DISEASE$ are described which consisted of bilateral congenital @PHENOTYPICFEATURE$ (secondary type), and a hypothalamic hamartoma.	false
+c7388f55662a77c1b7dad7ddcd3a21746b876853	We report a case of a 14-year-old Romanian male, with a family history of @DISEASE$ (mother) and Usher syndrome (father - congenitally sensorineural hearing loss and @PHENOTYPICFEATURE$).	false
+59cde7660a6263c1683ddcd1e3259a6718172171	alpha-Melanocyte-stimulating hormone signaling regulates expression of @PHENOTYPICFEATURE$, a gene deficient in @DISEASE$.	false
+247f3ab9cec9101723af8b6ecb8358aafd27367e	Epistatic connections between @PHENOTYPICFEATURE$-associated transcription factor and endothelin signaling in @DISEASE$ and other pigmentary disorders.	false
+429a04456f2560d6a950255337447692940ae8a3	Congenital inner @PHENOTYPICFEATURE$ are reported in temporal bones of a 22-month-old boy with @DISEASE$ and Hirschsprung's disease.	false
+6dbccb81f4f34e59c898bfb20beaf6a4834376e3	Bilateral @PHENOTYPICFEATURE$ with cyst, facial clefts, and limb anomalies: a new syndrome with features of @DISEASE$, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.	false
+343944ecd9bfd0c6f18dd7c2dc81936a87a318c6	@DISEASE$ is a rare congenital syndrome that is associated with @PHENOTYPICFEATURE$ and progressive loss of vision.	false
+590a2c29368fdd5b0eb69e46efe2f4a7277ac948	Congenital @DISEASE$ is a kind of eye disease characterized by complete or partial @PHENOTYPICFEATURE$ and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia.	false
+f1f146c6ea4c56a834b490ed77f1740c305eda3e	Heterozygous PAX6 gene mutations leading to haploinsufficiency are the main cause of congenital @DISEASE$, a rare and progressive panocular disease characterized by @PHENOTYPICFEATURE$.	false
+413eac706aecc080343e002d37e70c3d86a06bbb	The proportion of sporadic cases including WAGR (Wilms tumour, @DISEASE$, @PHENOTYPICFEATURE$, Mental Retardation) and Gillespie syndrome (aniridia, cerebellar ataxia and mental retardation) was 48%.	false
+899e669c61647bc94e4d4565b58d8b650953a765	The proportion of sporadic cases including WAGR (Wilms tumour, Aniridia, @PHENOTYPICFEATURE$, Mental Retardation) and Gillespie syndrome (@DISEASE$, cerebellar ataxia and mental retardation) was 48%.	false
+293aab28a85a5f0eeaa689f453ff6883ffeb00ea	Beckwith-Wiedemann syndrome, isolated hemihyperplasia, WAGR (Wilms tumor, @DISEASE$, @PHENOTYPICFEATURE$, mental Retardation) syndrome and isolated 11p13 deletion were the underlying diagnoses in 3, 2, 2 and 1 patient, respectively.	false
+3f67f1ce9f8edcc860ed252bf8af22c0106c7e42	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, @PHENOTYPICFEATURE$, and mental retardation, to which our observations belong.	false
+f54d9d900e96cafe2a45c580e7ba0c2136061816	We present a detailed molecular map of the deletion chromosomes 11 from five WAGR (Wilms tumor/@DISEASE$/@PHENOTYPICFEATURE$/mental retardation) syndrome patients, three of which are at the limits of cytogenetic resolution but shown here to be molecularly distinguishable and overlapping.	false
+a03129e4e7452bfd6a65b39a5b536f8ed06f6a29	Postmortem examination confirmed prenatal findings and showed @DISEASE$, low-set ears, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+7cb8aa88e9a2a1a7e811d7ed18503ccd99a6cf55	Before implantation of the IOL, all patients had @PHENOTYPICFEATURE$ from aphakia and intolerable glare from @DISEASE$.	false
+59e722f667e70fef40714f3c76353be69b3be5a5	Moreover, we were unable to demonstrate constitutional deletions in a candidate sequence for the Wilms tumor gene or any other marker in 2 patients with @DISEASE$ and @PHENOTYPICFEATURE$, 4 patients with Wilms tumor and urogenital abnormalities, 5 patients with bilateral Wilms tumors, and 3 familial Wilms tumor cases.	false
+38df710853c71c9a0d3ef26b27cf6f58f2198e98	Autosomal recessive macular corneal dystrophy (@DISEASE$) is a heterogeneous disorder leading to @PHENOTYPICFEATURE$.	false
+07515c38aac2811df44831d68be126a2fd8ddca9	Autosomal recessive @DISEASE$ (MCD) is a heterogeneous disorder leading to @PHENOTYPICFEATURE$.	false
+ed37cf8cb4a333f1a7070e8368421682a3624daf	The MD diet reproduced most of the deleterious effects of @DISEASE$ feeding, including @PHENOTYPICFEATURE$, hepatocellular injury, oxidative stress, inflammation, and fibrosis, whereas CD feeding was mainly responsible for steatosis, characterized by triglycerides and free fatty acids accumulation.	false
+fa8d6e62cfc3188c1d396e03769b065e2834de4f	Multicentric Castleman disease (@DISEASE$) is a rare nonmalignant lymphoproliferative disorder presenting systemic symptoms such as fever, night sweats, fatigue, @PHENOTYPICFEATURE$, effusions, and multifocal lymphadenopathy.	false
+097fa6db1e0ab1f766baf9649f9d63f2947e2ca8	@DISEASE$ (MCD; OMIM 217800) is a rare autosomal recessive inherited disorder caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) and characterised by the presence of unsulfated keratan sulfate proteoglycans (KSPGs) forming abnormal deposits that eventually lead to @PHENOTYPICFEATURE$.	false
+a0977dc4f482c3774793272778b9d7e53112ef07	Macular corneal dystrophy (@DISEASE$; OMIM 217800) is a rare autosomal recessive inherited disorder caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) and characterised by the presence of unsulfated keratan sulfate proteoglycans (KSPGs) forming abnormal deposits that eventually lead to @PHENOTYPICFEATURE$.	false
+80ce90461a1d433ab0e23aa9b6fbbe5ff059177a	Macular corneal dystrophy (@DISEASE$; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities in the cornea result in bilateral @PHENOTYPICFEATURE$, eventually necessitating corneal transplantation.	false
+4eefa71d001607412838b2b8a460a7265b1f446d	@DISEASE$ (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opacities in the cornea result in bilateral @PHENOTYPICFEATURE$, eventually necessitating corneal transplantation.	false
+c2b04db82224c5bc5778f71897c99fe614f176ac	Two patients (a 41-year-old woman and a 40-year-old man) with @DISEASE$ developed significant @PHENOTYPICFEATURE$ from recurrent disease within corneal grafts.	false
+d55334e558ef418ac97fa1335fa534b834e6baac	Patients with UCD are usually asymptomatic; however, those with @DISEASE$ usually develop fever, @PHENOTYPICFEATURE$, and peripheral lymphadenopathy.	false
+8b72dd6b882bb855d008d36cacd75a6dc4cc81c3	A 51-year-old woman was admitted to a local hospital because of pneumonia, and received a diagnosis of cervical lymphadenopathy, @PHENOTYPICFEATURE$, and hyperimmunoglobulinemia with suspected multicentric Castleman's disease (@DISEASE$).	false
+bf1e947663fd49de72727215a8b3ebaa83d39cd1	Labrador Retrievers affected by @DISEASE$ were presented between the age of 4.5 and 6?years of age with a history of cloudy eyes and/or @PHENOTYPICFEATURE$.	false
+5358e4a06873d8a6cfdf60e6a7880d2b72f0588b	We provide an example utilizing data from the Vaccine Safety Datalink (@DISEASE$) to study the potential elevated risk of @PHENOTYPICFEATURE$ following seasonal influenza vaccine in the 2010-2011 season.	false
+d6104c7e1745e593d328489a88d084f689f893e8	No increased risks, other than for @PHENOTYPICFEATURE$, were identified in influenza vaccine safety surveillance during 2013-2014 and 2014-2015 seasons in the @DISEASE$.	false
+0a70d73170fa57999abd1e22c383f432ea899607	After thorough debridement, exfoliative skin was made split middle @PHENOTYPICFEATURE$ graft for in situ replantation, and then @DISEASE$ was performed.	false
+83c2267802c4ba19166548debc5bd895d4c7a23e	Microstructural white matter alterations and hippocampal volumes are associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+999c2a8ecc5a6f931249538df8c67f54db96ceec	To date about 20 activating mutations in the calcium-sensing receptor (CaR) gene have been identified to cause @DISEASE$ (ADH) or sporadic @PHENOTYPICFEATURE$.	false
+ee04adc88c3acfc38334f61ca34e4fb6e5e6bf6b	Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8fa901f52ac6a4377ba673fbb6f47796e0783c8b	The therapeutic concepts for patients with familial hypocalciuric hypercalcemia (FHH), neonatal @PHENOTYPICFEATURE$ (NHPT), neonatal severe hyperparathyroidism (NSHPT) and @DISEASE$ (ADH) are reviewed.	false
+e3a310261912e7af53140bd3ba0731aa313d1686	The therapeutic concepts for patients with familial hypocalciuric hypercalcemia (FHH), neonatal hyperparathyroidism (NHPT), neonatal severe @PHENOTYPICFEATURE$ (NSHPT) and @DISEASE$ (ADH) are reviewed.	false
+3bf267def51a524ee4092355e1d83490df13069e	CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0040dcd0ba4f2b6b1fdfb5d9eaaac299be2340c3	Familial hypocalciuric hypercalcemia (FHH) and neonatal severe @PHENOTYPICFEATURE$ (NSHPT) are caused by loss-of-function CaR mutations producing Ca2+o "resistance," while @DISEASE$ is the result of activating mutations rendering CaRs overly sensitive to Ca2+o.	false
+afcf57ac6b32b8b8b6591b4b44d16c120ecb7ad9	Activating mutations cause a hypocalcemic syndrome of varying severity, termed @DISEASE$ or @PHENOTYPICFEATURE$.	false
+e10863b6448b77d7a618cd8b3ffdc127647f9444	Familial hypocalciuric hypercalcemia (FHH), neonatal severe @PHENOTYPICFEATURE$ (NSHPT), and @DISEASE$ (ADH), in which calcium homeostasis is disordered, are associated with mutations in the calcium-sensing receptor (CASR).	false
+76aedc7f75a448de6d5754816f6668671a9f3fcf	Inactivating CASR mutations are associated with familial hypocalciuric hypercalcemia (FHH) and neonatal severe @PHENOTYPICFEATURE$, and activating mutations cause @DISEASE$ (ADH).	false
+8b6ae12a8c10b733d7bfde97b318b4d839919a90	Activating mutations in the CASR gene have been identified in several families with @DISEASE$ (ADH), autosomal dominant @PHENOTYPICFEATURE$, or hypocalcemic hypercalciuria.	false
+2887e22904b1b5994aba2ad928e1ae177c965c3a	@DISEASE$ (ADH) is a congenital isolated @PHENOTYPICFEATURE$ caused by activating mutations in the calcium-sensing receptor (CASR) gene.	false
+916a52051fc84c06200b66d192a1f8a2160dd57d	Many patients also developed reversible @DISEASE$ dysfunction and two elderly patients died of @PHENOTYPICFEATURE$.	false
+38a5f9a87f50e3dcfa8166a8fab2b534acbb7489	The necropsy lesions included skeletal and cardiac @PHENOTYPICFEATURE$ and necrosis, icterus, @DISEASE$ necrosis, and oedema of the dependent parts.	false
+d6abcbce7937a251112e5226dd5b5afd8d28fbe3	A female neonate with diffuse hemangiomatosis and @DISEASE$ hemangiomas had cardiac insufficiency develop and had @PHENOTYPICFEATURE$.	false
+1f24b0a8b8c5f6673ef5559d238ca7d293c03831	We report on a boy who suffered from @PHENOTYPICFEATURE$, growth retardation, cardiomyopathy and @DISEASE$ dysfunction.	false
+d7a2108a299562376b8f75806a0f7e7b15d7eaa6	Postoperatively, there were two maternal deaths: one from @PHENOTYPICFEATURE$ and the other from @DISEASE$ failure.	false
+73e9c28df777c9b3448378d7349b6878389f5d56	The other mutation, c.1382_1383delAC (p.Asp461Glyfs), carried by a pair of monozygotic twins with @DISEASE$ damage, @PHENOTYPICFEATURE$ and cardiovascular defects, was de?novo.	false
+1797b0c8df760a14a1d46b907ba8fe4888cac7c1	CblC typically presents in the neonatal period with neurological deterioration, @PHENOTYPICFEATURE$, cytopenias, and multisystem pathology including renal and @DISEASE$ dysfunction.	false
+105e110aa74159808e35d699749b5a708dce3a47	Other toxicity was mild and included nausea and vomiting, diarrhea, mucositis, @DISEASE$ dysfunction, and @PHENOTYPICFEATURE$.	false
+48a35b46e927c2214054924d4e36e8d9e9fc77eb	It rarely causes @PHENOTYPICFEATURE$, pancreatitis and @DISEASE$ dysfunction.	false
+9cc0d442f9ecd044c365c23d569b08280f19aa15	All patients had an early presentation with severe feeding problems and @PHENOTYPICFEATURE$, hypotonia, @DISEASE$ dysfunction, inverted nipples, and abnormal subcutaneous fat pads.	false
+40e36c7c2c89abfbee1220426ee961fa15e0046e	However, heterozygocity for @DISEASE$ is associated with both an atherogenic lipid profile and @PHENOTYPICFEATURE$.	false
+22194ee9ba3b6b5cada36693089977dcfaee469d	2 and other genes, @PHENOTYPICFEATURE$, congenital cytomegalovirus infection, extracorporeal membrane oxygenation, and @DISEASE$ et al were more commonly reported risk factors.	false
+22f62eb6bbf25d6a20f88b28d49cbfafb8428e74	Subjects did not have pathogenic GJB2 mutations (the gene most often associated with inherited hearing loss), mitochondrial m.1555A>G or 3243A>G mutations, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+6376d55e5abbd86318a4fcb480d74d70f9ce112b	Auditory evoked magnetic fields in patients with absent brainstem responses due to @DISEASE$ with @PHENOTYPICFEATURE$.	false
+d24acba22fb45361ed00ef7b3ce4cfe983fe009b	Here, we report on eight subjects from four independent families affected by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0a4086e221f50e4469f68a5872b949e613af9e6f	We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, @PHENOTYPICFEATURE$, intellectual disability, @DISEASE$ and chronic respiratory and gut disturbances.	false
+17ad0d12e754889bd86d6459cf8caaf220efe54b	Clinically, otological examinations illustrated the typical postsynaptic @DISEASE$ for the proband without the symptoms of dystonia or @PHENOTYPICFEATURE$.	false
+34c4c36bf50a66caa58e1881286994e1e0e2c1af	Different missense mutations of the optic atrophy 1 gene (OPA1) identified in @PHENOTYPICFEATURE$ patients with auditory neuropathy spectrum disorder (@DISEASE$) induce functional impairment through different molecular mechanisms.	false
+938f90336270d19a72e05362d18d1d105bb89df9	Different missense mutations of the optic atrophy 1 gene (OPA1) identified in @PHENOTYPICFEATURE$ patients with @DISEASE$ (ANSD) induce functional impairment through different molecular mechanisms.	false
+3d9468365b6601cd25358b3aeef42ae4fdfada37	We describe the first detailed phenotyping of patients with autosomal recessive TMEM126A-associated @PHENOTYPICFEATURE$ and @DISEASE$.	false
+10c7ae4c9322dcbb729418dcac4ef9ffe0c26901	We report our diagnostic approach of a pair of siblings with psychomotor regression, hypotonia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+29f476586f4709a471efbcddde969e52c36125d6	To define the phenotype and elucidate the molecular basis for an autosomal recessively inherited @PHENOTYPICFEATURE$ and @DISEASE$ in a consanguineous family with two affected children.	false
+4ce32172835f12e11c977e8be6cc69cfc372dd91	We herein present the first reported case of @DISEASE$ (RCVS) in Takayasu's arteritis (TA), in a patient with severe thunderclap headache and @PHENOTYPICFEATURE$.	false
+c0023b466ad4c9e296efc25c341030b3e10a8b9d	Significance of @PHENOTYPICFEATURE$ markers in @DISEASE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+cf527c94757db5c6d5ca3dc44b2f2e1042327383	[@DISEASE$ and borderline @PHENOTYPICFEATURE$].	false
+a9c30f1086a2b62f39e94d702881dba216451428	Laparoscopic evaluation, comprehensive surgical staging for early @DISEASE$, or @PHENOTYPICFEATURE$ debulking for advanced stage ovarian cancer.	false
+9a0d3c6d33915278eaacb943ef6bbebc2fff8720	Laparoscopic evaluation, comprehensive surgical staging for early ovarian cancer, or @PHENOTYPICFEATURE$ debulking for advanced stage @DISEASE$.	false
+33972f9bb061260bd4ee2abecbf7607b5214e558	Targeting the @PHENOTYPICFEATURE$ microenvironment in @DISEASE$.	false
+3a93f22e244ff1745ff9eea04e25456f8a14af67	[@DISEASE$: the silent @PHENOTYPICFEATURE$.	false
+a7248524183795d427bab21e8d0dde3882f54a0c	Protein expression and promoter methylation of clusterin gene in 181 primary @PHENOTYPICFEATURE$, 40 borderline ovarian tumors, 54 @DISEASE$ mesenteric metastasis, and 10 normal ovarian samples were analyzed by immunohistochemical staining and methylation-specific PCR.	false
+9b3a26a8be8274f1b45f0feb687fb9428b534223	@PHENOTYPICFEATURE$ reduction and chemotherapy in @DISEASE$.	false
+e656bc12eb242d392c90847a7e974516e8d85a6a	@DISEASE$ is @PHENOTYPICFEATURE$ with high mortality.	false
+ef837659640531686773bcd1f0ece0842d0a41f3	Clinical @PHENOTYPICFEATURE$ markers in @DISEASE$.	false
+3604ad8165093a29103d4d568711562e1b79962a	Hypomyelination, @PHENOTYPICFEATURE$, @DISEASE$ - First Polish patient.	false
+9b15401cebaf6527a87361b2dd97d54ceb86d24f	This syndrome is characterized by bilateral apocrine hidrocystomas of the eyelid margins, @DISEASE$, palmar-@PHENOTYPICFEATURE$, and onychodystrophy.	false
+8e9f94556c3f0dfb8868c5c8253daa949d042555	The 4H syndrome (hypomyelination, @DISEASE$, @PHENOTYPICFEATURE$) is a newly recognized leukodystrophy.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+f31e0663572e87299846da4c92a94a8913794803	Apocrine hidrocystomas of the lids, @DISEASE$, palmar-@PHENOTYPICFEATURE$, and onychodystrophy.	false
+d25dd702ac92025f2c5d2b0000b08014b3f98457	Association of isolated @PHENOTYPICFEATURE$, pronounced @DISEASE$ and the Wolff-Parkinson-White syndrome.	false
+6fefc933578ac4f310521029a93aa36e68076ecf	4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without @DISEASE$ (or other dental abnormalities) and @PHENOTYPICFEATURE$.	false
+a776f02a88dbdbe54f46ad544d68143da8a00312	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without @DISEASE$ (or other dental abnormalities) and hypogonadotropic hypogonadism.	false
+b5afaf10380c1e7c97d246b1116c99f9020d112c	Peripheral and central hypomyelination with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2dd76c84ab615e66868a8e31b550ba27e4db7d3d	The term 4H was suggested for the rare, novel entity with hypomyelination, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c757fe03ede3859e462a4881f414927213250915	An unusual triad: Bilateral @PHENOTYPICFEATURE$ odontoma, @DISEASE$ and peg laterals.	false
+34dbcfcb66ac071da355b3a060c770eeb02f2f56	Two severe, progressive neurological disorders characterized by @PHENOTYPICFEATURE$, autism, and developmental regression, Rett syndrome and @DISEASE$, result from loss and gain of function, respectively, of the same critical gene, methyl-CpG-binding protein 2 (MECP2).	false
+06735bee99abc2a62d933bead3662a44ca5f125f	@DISEASE$ (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe @PHENOTYPICFEATURE$, epilepsy, autistic symptoms, and early infantile hypotonia.	false
+5d0130f582f20b5900359bf92dd978f0270d8f59	@DISEASE$ is an X-linked genomic disorder that is characterized by infantile hypotonia, @PHENOTYPICFEATURE$, and recurrent respiratory infections.	false
+5e90963b2c2093799560ef2a1b0397a305864fec	@DISEASE$ is a childhood neurological disorder characterized by @PHENOTYPICFEATURE$, autism, motor abnormalities, and epilepsy.	false
+998293b9df21a53bfe892cc7d85a3b04f782f3e3	@DISEASE$, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound @PHENOTYPICFEATURE$, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent.	false
+c7af2ad6beb6bc9f3ca2c9594ecf639f9be6d4ec	@DISEASE$, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, @PHENOTYPICFEATURE$, along with a variety of additional features that are not always clinically apparent.	false
+54b4832eb7b62d953aa617b12a17cae59623070d	For patients that present with delayed motor development, @PHENOTYPICFEATURE$, hypotonia, absent or limited language and recurrent infection, combination of MLPA and array- CGH is effective and specific diagnostic methods of @DISEASE$.	false
+9fc8de5740dd013ae560c0efaa5123936c3fd1b7	@PHENOTYPICFEATURE$ and brain atrophy on imaging studies might represent useful markers in predicting the severity of @DISEASE$ and worsening of CNS symptoms.	false
+285ccd9850317780c771f5dc03586e2a6e5eef85	@PHENOTYPICFEATURE$ (@DISEASE$) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2.	false
+abe47ddf949b9fc04c71d8aaef96337c6e5782fd	Salt wasting syndrome (hyponatremia, @PHENOTYPICFEATURE$, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (@DISEASE$) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA).	false
+f75ad6499e3bcc78d36bfe27411375f9cd8a08b5	We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, @PHENOTYPICFEATURE$ (@DISEASE$).	false
+dbc24a1a77af9f949f5c33a34fe83c355a9fb7ec	@PHENOTYPICFEATURE$ (@DISEASE$) is an uncommon condition.	false
+690ca247e82239ed13703985408e7de98f6e9903	@PHENOTYPICFEATURE$ (@DISEASE$) is an autosomal recessive disorder associated with inborn errors of steroid metabolism.	false
+862c67e61fe0b16e26cd9cbfd4bec379dbbefa65	Testicular adrenal rest tumours (TARTs) are benign testicular masses that are found in inadequately treated patients with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1fb9775c6947f15afa5804ac35e0b4aa3457a7f9	The typical MM was extracted and classified into seven distinct pattern classes: active wakefulness (AW), quiet wakefulness or quiet sleep (QW/S), sleep snoring (SS), sleep obstructive events (OAH), sleep mixed @PHENOTYPICFEATURE$ (MA), respiratory related arousal (RERA) and sleep central events (@DISEASE$).	false
+4a856d06c97a5f3a530ac0680f63b6fd8efb19b0	Cardiac evaluation of paediatric patients with @DISEASE$ showed no signs of left ventricular hypertrophy or @PHENOTYPICFEATURE$.	false
+c8d9a354813a7a2c85b2a9414b297fb226583740	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (@DISEASE$ syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+2f78b168c075f49280e0adac73d84f6925c75e3e	A few such examples, @PHENOTYPICFEATURE$, the @DISEASE$, venous thromboembolic disease, tardive dyskinesia, and drug addiction, are presented in this article.	false
+77fb335e242b74fe654e0210b6492cf1130e84e2	epilepsy, migraine, deafness, ataxia and startle disease), skeletal muscle (myotonia, @PHENOTYPICFEATURE$, periodic paralysis and myasthenia) and cardiac muscle (@DISEASE$ and ventricular fibrillation). 5.	false
+52d22e681917ed146427ce68db5adad4d95de998	Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, @DISEASE$, Brugada syndrome, @PHENOTYPICFEATURE$ and myasthenia.	false
+041ad397b5a1c266c06a4b768db565fc21b0cfce	Several human Mendelian diseases, including the @DISEASE$, @PHENOTYPICFEATURE$, and episodic ataxia/myokymia syndrome, have recently been demonstrated to be due to mutations in ion channel genes.	false
+d449c5c2b4b9b35615af70363af8c49bf82c6008	Older age and later age at @PHENOTYPICFEATURE$ onset, as well as unemployment, were associated with an increase in the odds of @DISEASE$ diagnosis.	false
+9d74f14ba84d2fe8ccaf0839f5516d384a280fbe	These data converge with those from other PET studies to indicate that primary @DISEASE$ is associated with @PHENOTYPICFEATURE$ in limbic and paralimbic structures of the mesiotemporal and prefrontal cortices.	false
+455a38e08efabfefc2cc2bf8164a079420f540a5	Participants with seizures occurring more than once weekly in the preceding 4weeks were 16 times more likely to have a @DISEASE$ compared with those with no @PHENOTYPICFEATURE$ in the preceding 4weeks (p<0.001,	false
+9c0fde0642f3953b3ebd0a44ab154ea735a800a4	Participants with @PHENOTYPICFEATURE$ occurring more than once weekly in the preceding 4weeks were 16 times more likely to have a @DISEASE$ compared with those with no seizures in the preceding 4weeks (p<0.001,	false
+3392338150669eb4d7764f1706b08a42acfbdf5a	In the current study we examined whether negatively biased self-referential processing, @PHENOTYPICFEATURE$ life events, baseline depressive symptoms, and psychotropic medication use predicted the onset of a subsequent depressive episode in a longitudinal study of women with a history of recurrent @DISEASE$.	false
+28bd93e6c25bf9ccc8fb1ab1f7820a8e020a4517	Major depressive disorder (@DISEASE$) is the most prevalent psychiatric comorbidity among patients with treatment-resistant @PHENOTYPICFEATURE$.	false
+6326031d91be5ee282bb7631f92866a5f841431e	Tremor and @PHENOTYPICFEATURE$ emerged significantly later than @DISEASE$ and the anxiety disorders studied.	false
+bcd677f9109c12b54a8f35b08b0cf76b71a75ffd	Intervention should focus on ensuring good @PHENOTYPICFEATURE$ control and optimal adherence in order to mitigate the impact of @DISEASE$ in patients with epilepsy.	false
+071f7665fe5b67bdc7d9f6098463025b95c99cad	This preliminary, uncontrolled study of a few cases suggests that adolescents with @PHENOTYPICFEATURE$ and @DISEASE$ may respond to paroxetine, and that adverse side-effects are mild.	false
+e4bafb50f0e13b5af83c8c1423b04708d7018f6b	Poor @PHENOTYPICFEATURE$ control, poor medication adherence, and long duration of illness were associated with the presence of @DISEASE$ among such patients.	false
+7409859e5d0b38d41c8f3970c39eefefd020896e	The most common diagnoses managed with atypical antipsychotic were attention-deficit/hyperactivity disorder, @DISEASE$, and @PHENOTYPICFEATURE$/intellectual disability in decreasing frequency.	false
+b0e5e550bbe4fe5151f50ba98e06430ca9ecc849	The most common diagnoses managed with atypical antipsychotic were attention-deficit/hyperactivity disorder, @DISEASE$, and mental retardation/@PHENOTYPICFEATURE$ in decreasing frequency.	false
+f4ec0fe49c7afcbc760ad921a4d5750a11537d22	Hyperthyroidism, hyperaldosteronism, @DISEASE$ and somatostatinoma lead to @PHENOTYPICFEATURE$ by other physiopathological mechanisms detailed in this article.	false
+97569e6f77f00cf2d5d1d9abfb9e522439503be3	The evolution after resection by distal pancreatectomy was remarkable for the successive occurrence of a Zollinger-Ellison syndrome which was resistant to a gastric resection, then a @PHENOTYPICFEATURE$ coma with ketoacidosis and finally a @DISEASE$.	false
+75f1dbd7aeb2d5c59748d19af523ff71c1189a0f	In all tumors that caused either @PHENOTYPICFEATURE$ or @DISEASE$, insulin and glucagon were respectively identified.	false
+ab2e7847495632f0ad7cbb2721ba0f008ea35e2d	A 69-year-old woman with classic @DISEASE$ had associated progressive neurologic disease manifest as dementia, ataxia, @PHENOTYPICFEATURE$, and lower limb weakness.	false
+7c7df06c940e9562f711dfa68814baedcfe27ecc	The FTD might cause the early degeneration of patellofemoral cartilage, which significantly appear in the young age; The type B-D of @DISEASE$ is more likely to cause the wider range of superficial cartilage injure and involved some part of deep layer; the injure shows dehydration change in superficial cartilage and @PHENOTYPICFEATURE$ in deep layer.	false
+756138c69f685135a32d89266f81d95aeac7e8e9	Our C9-ALS/FTD zebrafish model is the first to recapitulate the motor deficits, cognitive impairment, @PHENOTYPICFEATURE$, motor neuron loss and mortality in early adulthood observed in human C9orf72-ALS/@DISEASE$.	false
+79ce5a320ca530d3261668e360fa5199953d957a	Once patients with primary @PHENOTYPICFEATURE$ were excluded, we registered the heart rates of 258 patients with cognitive symptoms (36 with @DISEASE$, 22 with Alzheimer disease, 23 with vascular dementia, 10 with other dementias, and 167 with non-dementia cognitive impairment).	false
+c7ec75684b9c069508938c791b7f3c5d5e986697	Patients' diagnosis included amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, primary @PHENOTYPICFEATURE$, facial onset sensory and motor neuronopathy and ALS-@DISEASE$.	false
+9489a59169be00470bb6d0d9c9a74552f7b74a95	Pathological phenotypes in inclusion body myopathy (IBM) associated with Paget disease of the bone (PDB), frontotemporal dementia (@DISEASE$) and amyotrophic lateral sclerosis (ALS) (IBMPFD/ALS) include defective autophagosome and endosome maturation that result in vacuolation, weakness and @PHENOTYPICFEATURE$.	false
+7a8c539c82f8daea656053846d855ad3a6386d20	Oral urea has been used in the past to treat various diseases like gastric ulcers, liver metastases, sickle cell disease, @PHENOTYPICFEATURE$, brain oedema, glaucoma, @DISEASE$, etc.	false
+6ffd954c8a43a8a4caf6673a625f9b07efb013b7	A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with ventricular dilatation, a persistently open fontanelle, lymphadenopathy, subcutaneous nodules, developmental delay, @PHENOTYPICFEATURE$, persistent @DISEASE$, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs.	false
+96cd8f7012b064454738b0a0669fcc6204a9d775	A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, @PHENOTYPICFEATURE$ with ventricular dilatation, a persistently open fontanelle, lymphadenopathy, subcutaneous nodules, developmental delay, failure to thrive, persistent @DISEASE$, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs.	false
+ba0128414ce59b53efa9e9e1f455ad73760c7d10	This case describes a child with @PHENOTYPICFEATURE$, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with @DISEASE$.	false
+b4813c8cf16846a5fc508497bad4f2f0f5439efe	Children with @PHENOTYPICFEATURE$ or pervasive developmental disorder (PDD) and @DISEASE$ (TS) share a number of symptoms.	false
+7b6063a149c9e6f09bd5584a3cd8c3f09d57f579	Children with autism or @PHENOTYPICFEATURE$ (PDD) and @DISEASE$ (TS) share a number of symptoms.	false
+416def38679f0d7537e90de6ce18ea436cc77a63	@DISEASE$ (TS) is a neurodevelopmental condition characterised by multiple @PHENOTYPICFEATURE$, with frequent behavioural co-morbidity.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+9d4126cbaeb3a6a940b946eef42a040597a8a6b7	@DISEASE$ and comorbid @PHENOTYPICFEATURE$.	false
+d923c0cc1d600f9c3c2a2aa27dbdcc0546b49fe4	In participants with @DISEASE$ and comorbid pervasive developmental disorders, 98.8% had one or more comorbidities (@PHENOTYPICFEATURE$ was not counted) compared to 13.2% in the group of participants with Tourette syndrome only.	false
+c89e44323456cfcd7fa21d3032748f4da5191396	In participants with Tourette syndrome and comorbid pervasive developmental disorders, 98.8% had one or more comorbidities (@PHENOTYPICFEATURE$ was not counted) compared to 13.2% in the group of participants with @DISEASE$ only.	false
+c639a7c41218530a613dfa5de56fdfd4ca7ecff0	In participants with Tourette syndrome and comorbid @PHENOTYPICFEATURE$, 98.8% had one or more comorbidities (pervasive developmental disorder was not counted) compared to 13.2% in the group of participants with @DISEASE$ only.	false
+cc6b6db982fb1c28404941b046cff48dbb47d869	In participants with @DISEASE$ and comorbid @PHENOTYPICFEATURE$, 98.8% had one or more comorbidities (pervasive developmental disorder was not counted) compared to 13.2% in the group of participants with Tourette syndrome only.	false
+787e8a939ce80bb23b752819643df0719d4f82b2	Clinical and genetic relationships between autism-@PHENOTYPICFEATURE$ and @DISEASE$: a study of 19 cases.	false
+c8265fd14acf5d16bf6163d1a1afb535c0980709	Clinical and genetic relationships between @PHENOTYPICFEATURE$-pervasive developmental disorder and @DISEASE$: a study of 19 cases.	false
+0dc9c2624ba8a748e54d89e7961fff546618f876	@PHENOTYPICFEATURE$ and attention deficits in boys with @DISEASE$.	false
+6a6eb302a82eb2cc0782757b9ae55c2a5e3042f5	@DISEASE$ is a hyperkinetic @PHENOTYPICFEATURE$.	false
+406d93323422316ae3110dc154b7eb70df027226	@DISEASE$ and prognosis in @PHENOTYPICFEATURE$.	false
+57b8b2de977d3a2ae1d598f0c308f6f9d6c560d2	@DISEASE$ is a @PHENOTYPICFEATURE$ with multiple neuropsychiatric features.	false
+c6da0174b92713b1038212003d85b8cd3f1d580e	To describe @PHENOTYPICFEATURE$ phenotypes associated with the @DISEASE$ (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH).	false
+c14ca2406fef09d267dc0abb6c671454a7adebdf	@PHENOTYPICFEATURE$ and diagnostic difficulties in @DISEASE$.	false
+58621b6273ab760ea5d2ecca06ca039a3eef555d	This case illustrates the complex relationship between @PHENOTYPICFEATURE$ and hypoglycemia in @DISEASE$ that can create diagnostic difficulties.	false
+f96e50e0e9418e569ba3e68c9d3658d41570dc7f	Familial @DISEASE$ in a family with @PHENOTYPICFEATURE$: case report.	false
+ad4caa52e9df810c6459c55224b1eeb2026c5d2b	Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the @DISEASE$, which is often associated with @PHENOTYPICFEATURE$, mental retardation, and generalized dystonia.	false
+2710372eb089197a83de498cd8e59951d3c6e03d	Analysis of Serbian patients with @DISEASE$ confirms the association of p.S445L and p.R221C mutations with hypoglycaemic @PHENOTYPICFEATURE$ noted within the first three months of life and with subsequent risk for cognitive impairment and/or epilepsy.	false
+811b3c4e338fd74b620475883037bd6660c7d525	Patients with the @DISEASE$ have an increased frequency of generalized seizures, especially absence-type @PHENOTYPICFEATURE$, in the absence of hypoglycemia.	false
+4592d3c9d1dc96586fe9ac0e017017e302f0224b	@DISEASE$ is considered the second most common form of hyperinsulinism (HI), and usually associated with @PHENOTYPICFEATURE$, mental retardation and generalized dystonia.	false
+1368fe4722fb58fa224471dc1795c7cbfe36bc12	In addition to more non-specific @PHENOTYPICFEATURE$, obesity is the cause of gastro-oesophageal reflux disease, various gastrointestinal cancers (colorectal cancer, hepatocellular carcinoma, @DISEASE$, gastric cardia adenocarcinoma, pancreatic cancer and gallbladder cancer) and non-alcoholic fatty liver disease.	false
+2a4c48adf84b28af12e83324a505e347ac123eeb	@DISEASE$ (TS) is associated with multiple @PHENOTYPICFEATURE$.	false
+329e368d248265ddc67cddce95282c8cb8f5f8d3	A preliminary study on the mechanism of @PHENOTYPICFEATURE$ in @DISEASE$ using inducing pluripotent stem cells (iPS)- based disease models.	false
+2a4c48adf84b28af12e83324a505e347ac123eeb	@DISEASE$ (TS) is associated with multiple @PHENOTYPICFEATURE$.	false
+260f05a74ca0c7423a520f138dd8f81a05521c02	Females with @DISEASE$ are characterized by @PHENOTYPICFEATURE$, short stature and primary ovarian insufficiency.	false
+ebd1616e79fb91192768a431c40cd1e7d3a24d3c	@PHENOTYPICFEATURE$ and "osteoporosis" are frequent features of Ullrich-@DISEASE$ (UTS), but their cause remains largely unknown.	false
+1ec42e52f14948e3254472fadd8b5f39275d973e	[Case of XY @DISEASE$ associated with @PHENOTYPICFEATURE$ around the foramen magnum].	false
+35b8b08924d08e00a6a56dba7fa50ebe88822533	@PHENOTYPICFEATURE$ and @DISEASE$; the relation of the pituitary gland to sexual differentiation.	false
+ba334b588d7e72db5ffe91648fd83fe5b4ffa042	Hyperreninemia and hypertension observed during Kaufmann therapy of patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a5e18cd38f67a7e99c68030b146d43a3f210cb08	The short stature homeobox gene SHOX is involved in @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+b6fb7a559cf1f208bfb007b8e1eafea64affb714	Genetically, infantile neuroaxonal dystrophy (7/21), @DISEASE$ (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+b621f524a0538d3c55c5ad329f5bd387b033683e	The most important ones include: nausea and vomiting, orthostatic hypotonia, psychiatric syndromes, @PHENOTYPICFEATURE$, pleuropulmonary and @DISEASE$, vasoconstrictive properties, oedema, hormonal disturbances, as well as dyskinesias.	false
+f5b8e389512285286e577d7244061ab4b49a8a1e	@DISEASE$: an unusual presentation of @PHENOTYPICFEATURE$.	false
+ab497de2203303718a4a3c2b99b1cdc3fd1641b7	To our knowledge, there are no previous clinical reports of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+52c743b7e207615b8b09a621cc69a129d537ccf3	@DISEASE$, an X-linked dominant cardioskeletal @PHENOTYPICFEATURE$, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2).	false
+e89a26f8d640d473a5a208dd77cbab3c5ebf4d62	@DISEASE$ is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal @PHENOTYPICFEATURE$ and mental retardation.	false
+5725fe421d1640a3b521f4d0ec744958b0e2a4a1	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular @PHENOTYPICFEATURE$, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in @DISEASE$), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+9a5a6f602dff94f6c0f3545b5b4c744c696f4c31	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, @DISEASE$, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+1410333a3533f7a81e4a290a273eb294f8cf079a	Other apparently unrelated hereditary disorders in the family included ectrodactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a98d17ace0942677e6ef9d6daee17eec25524fa5	The main clinical feature was similar to @DISEASE$ but @PHENOTYPICFEATURE$ may not be an essential phenotypic feature of SLC9A1 mutation.	false
+2bc552b081f0fdf1ac2c289f9f6182639a987716	Mutation of SLC9A1, encoding the major Na?/H? exchanger, causes ataxia-@PHENOTYPICFEATURE$ @DISEASE$.	false
+660c600d09622129cf12fba7cc4b0869875dc751	Given that GTA has been chronically administered safely to infants with @DISEASE$, a leukodystrophy due to ASPA mutation, GTA-mediated acetate supplementation may provide a novel, safe chemotherapeutic adjuvant to reduce the growth of glioma tumors, most notably the more rapidly proliferating, glycolytic and hypoacetylated mesenchymal glioma @PHENOTYPICFEATURE$.	false
+104d154123b2b2ec5b1789f192c6907f8f842050	Given that GTA has been chronically administered safely to infants with @DISEASE$, a leukodystrophy due to ASPA mutation, GTA-mediated acetate supplementation may provide a novel, safe chemotherapeutic adjuvant to reduce the growth of glioma @PHENOTYPICFEATURE$, most notably the more rapidly proliferating, glycolytic and hypoacetylated mesenchymal glioma tumors.	false
+1492c38a5366c28d98d73cf190a9da4eec7df5ca	Thought to be purely coincidental, this is also the first description of any intracranial @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+ba7f0d719b7fa94470243799a1d36be031e3cae5	A patient with severe @DISEASE$ developed fatal myoglobinuric @PHENOTYPICFEATURE$.	false
+8192bbe7bc5182aa49770bfc5492929dcc8742d9	Alzheimer's disease, Parkinson's disease, @PHENOTYPICFEATURE$ epilepsy of the Unverricht-Lundborg type, spinocerebellar degeneration, @DISEASE$ and Down's syndrome have been associated with several mitochondrial alterations.	false
+3fcca3be3968f6cd915a52963e84a5e206a0c6d5	Alzheimer's disease, Parkinson's disease, myoclonus epilepsy of the Unverricht-Lundborg type, @PHENOTYPICFEATURE$, @DISEASE$ and Down's syndrome have been associated with several mitochondrial alterations.	false
+22b840d96d9d57d7cbd17c200a32c79cf1ad445c	We report the case of a 64-year-old man with @DISEASE$ characterized by severe uncontrolled dystonic and @PHENOTYPICFEATURE$ of the face, shoulders, and arm and forearm muscles, which improved with oral sodium oxybate.	false
+4d8ea9da574a662ee50f6a053bb1bfa0b59e8f9b	Fatal myoglobinuric @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+fc59fbbc7839c2c644e136cabb3cc6ced394d919	Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, @DISEASE$ rs1805081, fat mass- and obesity-associated gene rs6499640, melanocortin 4 receptor gene rs17782313, and brain-derived neurotrophic factor rs6265) and @PHENOTYPICFEATURE$ risk was only observed in children who had moderate-to-low physical activity levels or engaged in sedentary behavior, regardless of which risk alleles they carried.	false
+be928e9ffb75d06c1cd57373e1d29c0b9696c492	Most notably, the association between 5 SNPs (Fas apoptotic inhibitory molecule 2 rs7138803, @DISEASE$ rs1805081, fat mass- and @PHENOTYPICFEATURE$-associated gene rs6499640, melanocortin 4 receptor gene rs17782313, and brain-derived neurotrophic factor rs6265) and obesity risk was only observed in children who had moderate-to-low physical activity levels or engaged in sedentary behavior, regardless of which risk alleles they carried.	false
+f8b9302371e40a4355ddee7d42857b291efae548	There is evidence that the @PHENOTYPICFEATURE$ phenotype in the Caucasian populations is associated with variations in several genes, including neuronal growth regulator 1 (NEGR1), SEC16 homolog B (SCE16B), transmembrane protein 18 (TMEM18), ets variant 5 (ETV5), glucosamine-6-phosphate deaminase 2 (GNPDA2), prolactin (PRL), brain-derived neurotrophic factor (BDNF), mitochondrial carrier homolog 2 (MTCH2), Fas apoptotic inhibitory molecule 2 (FAIM2), SH2B adaptor protein 1 (SH2B1), v-maf musculoaponeurotic fibrosarcoma oncogene homolog (MAF), @DISEASE$ (NPC1), melanocortin 4 receptor (MC4R) and potassium channel tetramerisation domain containing 15 (KCTD15).	false
+a93cffeb0e34b2c0ea3bcc4861133a76a11c63ca	A 59-year-old woman with @DISEASE$ who had frequent episodes of @PHENOTYPICFEATURE$ underwent radiofrequency catheter ablation.	false
+efd4d16c8652f2f41b4764948ef7a2acb2331fa5	The resulting @PHENOTYPICFEATURE$ might link to @DISEASE$ with persistent AV myocardial connections.	false
+a4d3478999eeb78252ced6e1c489ea94adb95fbd	A five month old boy was referred to us with recurrent episodes of @PHENOTYPICFEATURE$ and heart failure due to @DISEASE$ syndrome.	false
+1f01fdc45a056e6a79950952b216b76e9aaef936	A five month old boy was referred to us with recurrent episodes of tachycardia and @PHENOTYPICFEATURE$ due to @DISEASE$ syndrome.	false
+1ede5ee69a85af7018eb1e07f49d3a8faac5e4f4	We report a @PHENOTYPICFEATURE$, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, costovertebral dysplasia, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with @DISEASE$.	false
+2b36480ee579bfac3def51c1c65de6c741c6f895	We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, @PHENOTYPICFEATURE$, costovertebral dysplasia, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with @DISEASE$.	false
+cde330f3d9db3ac167726816066d8b728e7b6a25	Indications included AF, @DISEASE$, ventricular tachycardia, and @PHENOTYPICFEATURE$.	false
+4ef686079285c6e1c96b1e0aa3f45784cc87d04f	A baby with a @DISEASE$ but no other @PHENOTYPICFEATURE$ was delivered.	false
+47777700da8b55537809b29458662fb786251d41	In the @DISEASE$, @PHENOTYPICFEATURE$ is possible in concomitant atrial fibrillation and high conduction along the Kent bundle.	false
+8fc44ac9716894ea936ce64eb2534636131b46a5	Paroxysmal auricular @PHENOTYPICFEATURE$ associated with @DISEASE$ in a newborn infant.	false
+5ca4ca59786392088699e8fa8c7d5c5a6df7906c	Four subjects had electrocardiographic evidence of the @DISEASE$ syndrome and episodes of circus movement @PHENOTYPICFEATURE$.	false
+f873eaf733d0fdcb906b08878425c52521947f00	Related morbidity includes @DISEASE$-syndrome and congenital @PHENOTYPICFEATURE$.	false
+5c2c931bfce1fd41902c9e965bbd1fe85e89a1fb	We suggest that @DISEASE$ should not merely be considered a syndrome consisting of aplasia cutis congenita and terminal transverse limb defects but rather a constellation of clinical findings resulting from an early embryonic @PHENOTYPICFEATURE$.	false
+38b6d07bb1540f17af391d3ee15c67a4573cff17	The phenotypic and genetic spectrum of @PHENOTYPICFEATURE$ with oculomotor apraxia (@DISEASE$) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes.	false
+2fadccab482e2287f5b299f3c6cb6bee2e0fc90a	Narrow phonetic transcriptions and prosodic judgments were made of single-word imitations by apraxic (@DISEASE$), conduction aphasic (CA), and @PHENOTYPICFEATURE$ dysarthric (AD) speakers.	false
+7c7c859d8837e20f39a200b8ff8ed96b004a2968	DOCK6 mutations were strongly associated with structural brain abnormalities, ocular anomalies, and @PHENOTYPICFEATURE$, thus suggesting that DOCK6-linked disease represents a variant of @DISEASE$ with a particularly poor prognosis.	false
+642a6c15af59fba8af548984c4e114394aa2b64b	In the background of this postulation and the report of an unusual @PHENOTYPICFEATURE$, a literature review on the various pathogenetic mechanisms and anomalies of the hand reported in @DISEASE$ is presented.	false
+c554d43bcd1d4c6f53cce1e414436acd598b2299	Separate sections are devoted to the delimitations of @DISEASE$ from oral facial apraxia, @PHENOTYPICFEATURE$, and phonological impairment.	false
+f5a8c80b992545bd9f18bf070a885287164db225	A second variant, AHS/9PI, resulted in signs and lesions typical of the cardiac form of @DISEASE$: pericardial effusion, subendocardial hemorrhage and widespread subcutaneous @PHENOTYPICFEATURE$.	false
+d4a217f86271106354a2f3c2c6ee47df2ee2099e	The @DISEASE$ patients with second- or third-stage chronic alcoholism and periodic alcohol consumption typically exhibited recurrent chest pains, @PHENOTYPICFEATURE$, signs of heart failure after an alcoholic bout, and those given to regular drinking had somato-vegetative complaints.	false
+f7c588580c5bda168f0bceed427a97f479a35ca5	Schinzel-Giedion syndrome (@DISEASE$) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial @PHENOTYPICFEATURE$.	false
+4a677638a0537a5fd2e92c044ade9fdd786f0447	We report the first case of @DISEASE$ type I, co-existing with tracheo-esophageal fistula and @PHENOTYPICFEATURE$.	false
+1f7c27b8e83d9e5819464714a9a579a591992eb7	(2) @PHENOTYPICFEATURE$ is a prominent feature in @DISEASE$ due to ?/?-hydrolase 12 deficiency, and in hereditary sensory autonomic neuropathy type I due to serine palmitoyl-CoA transferase deficiency.	false
+5a088331d05df90bf091a561af7614ea5780daa0	Pulmonary veno-occlusive disease (@DISEASE$) is a rare cause of pulmonary @PHENOTYPICFEATURE$, and is of unknown aetiology.	false
+0309463aa43e1088e1c65d64f21e068c90a6ab1f	Among the 134 people (8%) with visual impairment at presentation, 98 (73%) had undercorrected refractive error, 17 (13%) had @DISEASE$ (8%) had @PHENOTYPICFEATURE$, 2 (2%) had diabetic retinopathy and 2 (2%) had glaucoma.	false
+7225aedd2b9c43526d67c5d6f01863b752efe64d	Among the 134 people (8%) with @PHENOTYPICFEATURE$ at presentation, 98 (73%) had undercorrected refractive error, 17 (13%) had @DISEASE$ (8%) had cataract, 2 (2%) had diabetic retinopathy and 2 (2%) had glaucoma.	false
+7424828ae0677efb9e2d85439a76c08d5b117b21	After adjusting for age, gender and comorbidities of hypertension, diabetes mellitus, @PHENOTYPICFEATURE$, coronary artery disease, asthma, chronic obstructive pulmonary disease, chronic kidney disease, heart failure, obesity, and atrial fibrillation, the @DISEASE$ patients had a 1.48-fold higher risk of ischemic stroke than the comparison cohort, but it was not statistically significant.	false
+e121416f74bb82a22eb6b6d8013331f249415152	Of women with @DISEASE$ and @PHENOTYPICFEATURE$, 21.7% reported a positive family history of hypodontia compared with no report in the control group of women with hypodontia (P ?=? .150).	false
+26114f1276b4f4cce6792e9c193ac74f05257620	The label of "@DISEASE$" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, @PHENOTYPICFEATURE$, and diabetes mellitus.	false
+5191e9ce5b81afc2e15f27c8a2b7122811b906e6	Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the brittle bone disease @DISEASE$ (OI).	false
+5aca44183147878166ded9c723b52f251e51281b	Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the @DISEASE$ osteogenesis imperfecta (OI).	false
+253796c69729be2fac858de99057730e971a8ea2	@DISEASE$ (OI) is the most common @PHENOTYPICFEATURE$ that predisposes to recurrent fractures and bone deformities.	false
+d66cdbfac07eae4db0f1b9d2be2cfb7a63750dc5	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by bone fragility and extraskeletal manifestations.	false
+15f25a0c854b04ee2c8f412d69838e644eab3869	@DISEASE$ (OI) is a rare hereditary @PHENOTYPICFEATURE$, characterized by recurrent fractures and bone deformity.	false
+a9a6542bcbc4d9371f825a95a1783761fab6a311	The inherited @PHENOTYPICFEATURE$ @DISEASE$ (OI) results in multiple fractures and is currently treated empirically.	false
+deb16148f7a15b1d9079d0394409c196285e0eb9	Nontraumatic subdural hematoma in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5b4d87a6c68a05c1886400ed7f5d1912f69c12ba	Molecular spectrum and differential diagnosis in patients referred with sporadic or @PHENOTYPICFEATURE$ @DISEASE$.	false
+c36622c8f9e34afbc06cf25a8e99397974c95048	@DISEASE$ (OI) is a @PHENOTYPICFEATURE$ characterized by brittle bones and extraskeletal manifestations.	false
+dda1c31b3ae0de676ad6ee30e9c27a01f9fe291c	@DISEASE$ (OI) is a rare disease leading to recurrent fractures, hyperlaxicity of ligaments, short stature and @PHENOTYPICFEATURE$.	false
+d66cdbfac07eae4db0f1b9d2be2cfb7a63750dc5	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by bone fragility and extraskeletal manifestations.	false
+ab4b947d177ba5a76d3e7d818b6920c699558f80	@DISEASE$ (WCD) is a chronic recurrent organ disease characterized by the formation of painful dense nodes in subcutaneous fat tissues, free from suppuration and accompanied by episodic temperature changes, chills and muscular @PHENOTYPICFEATURE$.	false
+dda9513521605ebbccd52cca5d35d62208ad01e8	Weber-Christian disease (@DISEASE$) is a chronic recurrent organ disease characterized by the formation of painful dense nodes in subcutaneous fat tissues, free from suppuration and accompanied by episodic temperature changes, chills and muscular @PHENOTYPICFEATURE$.	false
+e6dfdb70700bcad205446f3ddd812cdab22d8474	We describe significant sleep disturbance in non-institutionalized patients with @DISEASE$ and suggest that early @PHENOTYPICFEATURE$ may help differentiate between FTD and AD.	false
+23228f1f263d68a61f895f3f1d1c7fb1d16726a5	We describe significant sleep disturbance in non-institutionalized patients with FTD and suggest that early @PHENOTYPICFEATURE$ may help differentiate between @DISEASE$ and AD.	false
+4979ce18d145896985a8cf108035c80690368e2e	Our comprehensive review of the empirical literature reveals that AD is characterized by early @PHENOTYPICFEATURE$ and visuospatial problems, while among the main features of @DISEASE$ are behavioral abnormalities and executive dysfunctions.	false
+e32a7b985816cb4b669085382fd6ac9b6e23d9d7	Insomnia is found to be more present and specific for AD; EDS was associated with the presence of dementia in the elderly with LBD or PDD; RLS and nightmares that were recognized mainly in @DISEASE$, LBD, and PDD patients scores; patients with MCI had a frequency of @PHENOTYPICFEATURE$ of any type equal to that of patients with AD presenting mostly insomnia, nightmares or RLS more frequently; nightmares were more frequent among LBD and PDD patients.	false
+075a1f962b0fb1bf83bee41706ad414121e8c899	The most prevalent symptoms in patients with PLBD were apathy, appetite changes, @PHENOTYPICFEATURE$ and agitation (50% each); in patients with VD they were apathy, depression and anxiety (42.90% each), and in patients with @DISEASE$ they were apathy, anxiety and aberrant motor activity (100% each).	false
+087edbe5f0822f7f6b107a67405217381db040cc	Episodic @PHENOTYPICFEATURE$, the clinical hallmark of AD, can also be encountered in patients with @DISEASE$, complicating accurate diagnosis.	false
+d361b68a5eae8a633f2df02537a8efd5843ab0fa	To investigate the relationship between the plasma orexin-A levels and @PHENOTYPICFEATURE$ patterns, we measured the plasma orexin-A levels and performed sleep studies in patients with @DISEASE$.	false
+504401f327cdbf372d8b09e3ac2e8647b42c2dd2	Since in @DISEASE$ patients @PHENOTYPICFEATURE$ may be obvious from an early stage of their disease, and possibly earlier than in AD patients, physicians and caregivers should be alert for the early detection and treatment of these symptoms.	false
+23b64774f745864e01bdd09809bc5e5275c2bf9e	Here we constructed a conditional TDP-43 mouse with depletion of TDP-43 in the mouse forebrain and find that the mice exhibit a whole spectrum of age-dependent @DISEASE$-like behaviour abnormalities including perturbation of social behaviour, development of dementia-like behaviour, changes of activities of daily living, and @PHENOTYPICFEATURE$ at a later stage of life.	false
+0161c68ec7ced9f3fe56d719edb1851ca7926214	Our pedigree as well as the American one show early @PHENOTYPICFEATURE$ and pronounced temporal lobar atrophy similar to AD, while the Dutch cases show more @DISEASE$ features.	false
+cf68737b2d9e9cd8308b4da7db7de53db4e12390	With equal performances on memory tests, patients with early onset AD showed posterior temporal and parietal lobe hypoperfusion in comparison with patients with @DISEASE$ and @PHENOTYPICFEATURE$, while vice versa hypoperfusion in the anterior frontotemporal regions was found in FTD patients with memory impairment in comparison with AD.	false
+9a919aaebe29d6da5c9fbce28e975f7694322bac	With equal performances on memory tests, patients with early onset AD showed posterior temporal and parietal lobe hypoperfusion in comparison with patients with FTD and @PHENOTYPICFEATURE$, while vice versa hypoperfusion in the anterior frontotemporal regions was found in @DISEASE$ patients with memory impairment in comparison with AD.	false
+28f5f396dd30249bee1e2569690197a6ca81c170	Furthermore, lymphangioma must be taken into consideration in the differential diagnosis of @PHENOTYPICFEATURE$, protrusio bulbi, protrusio conjunctivae and congenital @DISEASE$.	false
+15c93b5610575f1d446a8b3b279ebc0252f0bfef	We identified a child diagnosed with @DISEASE$ and @PHENOTYPICFEATURE$ who presented with upper airway obstruction and cyanosis.	false
+42cc788065152c330ef3016139863fa9bc8452a1	Isolated @DISEASE$: a case with upper airway obstruction and @PHENOTYPICFEATURE$.	false
+6998ac8d79030dc0c7fd59beed6f11687675c9f2	Using a computerized word search (n = 4102; testicular microlithiasis, calcification, microliths, calcific foci, tumor, neoplasm, cancer, hyperecho, hypoecho, heterogen, and carcinoma) and manual retrieval (n = 790), cases of @PHENOTYPICFEATURE$, testicular microlithiasis (>5 microliths per sonogram), and @DISEASE$ plus tumor were pulled and retrospectively reviewed.	false
+2797ba937e3fd50b0e9f06eac7845bd83dd434fd	Using a computerized word search (n = 4102; testicular microlithiasis, calcification, microliths, calcific foci, @PHENOTYPICFEATURE$, neoplasm, cancer, hyperecho, hypoecho, heterogen, and carcinoma) and manual retrieval (n = 790), cases of tumor, testicular microlithiasis (>5 microliths per sonogram), and @DISEASE$ plus tumor were pulled and retrospectively reviewed.	false
+0402c3cb833cbcc676166c2fd5d5a157adb90f28	Using a computerized word search (n = 4102; testicular microlithiasis, calcification, microliths, calcific foci, tumor, neoplasm, cancer, hyperecho, hypoecho, heterogen, and carcinoma) and manual retrieval (n = 790), cases of tumor, testicular microlithiasis (>5 microliths per sonogram), and @DISEASE$ plus @PHENOTYPICFEATURE$ were pulled and retrospectively reviewed.	false
+9174107f99428a474d02772ce9b501d3c9c423c4	In all subjects with @DISEASE$ @PHENOTYPICFEATURE$ markers were also measured.	false
+b2e67962eeff511ada5fb84e3647514affb646ee	Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and @DISEASE$, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, @PHENOTYPICFEATURE$, renal agenesis and neuromotor delay.	false
+c62f560cf24df747a724529a6e43f98a0fa12221	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental @PHENOTYPICFEATURE$ deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+1983b320e5555f0aec04e46df42f1f8091b760c3	@DISEASE$ is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, @PHENOTYPICFEATURE$ and characteristic facial features.	false
+14c37448f5c79c9c8ad0f98a6099aa633b329826	We report data on feeding and @PHENOTYPICFEATURE$ in 50 patients with @DISEASE$.	false
+6f21e0e6b4f9c060288b047e5162956f10c737dc	This study revealed that when compared with children with normal structures, children with cleft lip and palate did not demonstrate significant apraxia characteristics, children with cleft palate only demonstrated some @PHENOTYPICFEATURE$ characteristics, and children with @DISEASE$ demonstrated the most apraxia characteristics.	false
+59e7b0c4a3fdb13d184a34d3bae17764adde5c04	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, @DISEASE$, Williams syndrome, XXX and XYY.	false
+f00fa483994b9c80bbfa342806585981a8c916e1	Two cases of @PHENOTYPICFEATURE$ and the @DISEASE$ -- a clinically significant association?	false
+5d1037de99ce1a4b02e1b98da67ffc17836cc700	@DISEASE$ with parkinsonism, @PHENOTYPICFEATURE$, and congenital strabismus.	false
+ac96052099eec63607e91659991a0173c52630b1	We conducted chromosomal mapping of the pma gene that is a causative gene in the @DISEASE$ mouse, which shows a @PHENOTYPICFEATURE$ at birth and unusual gait due to a dropped foot in the adult.	false
+4bda922a3acd41d00c54ea65bb08f92b848e00df	Furthermore, we suggest that the choroid plexus pappilloma could be a characteristic @PHENOTYPICFEATURE$ of the @DISEASE$.	false
+90fcdb78d205451580001d936fa3f042cfbe219e	Management of these @PHENOTYPICFEATURE$ is controversial because their natural progression in @DISEASE$ has only been rarely documented.	false
+cd37a1f41eb5fb600675ff6a6ef2a6a56bdbf070	@DISEASE$ with multiple @PHENOTYPICFEATURE$: a case report with literature review.	false
+aca1bceccb44bf57703edc8a8b4d8399bdbf450e	Rare germ cell @PHENOTYPICFEATURE$ of the H&N, such as YSTs, have now been documented in several patients with @DISEASE$, indicating a possible association given the rarity of these tumors in the population.	false
+5d509abe51b081fb2ff9d1e32aa85205dc743bfd	Rare germ cell tumors of the H&N, such as YSTs, have now been documented in several patients with @DISEASE$, indicating a possible association given the rarity of these @PHENOTYPICFEATURE$ in the population.	false
+eaff4f75acd0fe435103f164e608eb030b84a125	The increased frequency of @PHENOTYPICFEATURE$ in @DISEASE$ should be kept in mind when evaluating these patients.	false
+42216980cc351f5bd85fdb3d767a3e75c2ccea41	Early @PHENOTYPICFEATURE$ epilepsy (EME) or @DISEASE$ is one of the most severe epileptic syndromes affecting neonates.	false
+11137976b1c5807391ee2473b457d897ce9e4f2c	This report describes the progression of such a @PHENOTYPICFEATURE$ over 7 years in a girl with @DISEASE$.	false
+9d2ab5a8bcb730cbe9caf9003098e957397a3425	@DISEASE$ (AS) is a rare neurodevelopmental disorder, predominantly seen in female individuals, which appears to have an increased risk of both benign and malignant @PHENOTYPICFEATURE$.	false
+216c160458cd0e81f38a0aee3563b071f0e6f443	The aim of this study was to define the clinical characteristics of patients who developed @PHENOTYPICFEATURE$ in association with moyamoya disease (@DISEASE$).	false
+145d22d4c07eb0eaf0f4792cb0f3b72c03349768	Using PubMed and medical records of our hospital from 1985 to 2008, we searched for patients who developed @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+e3806a81657d1a91cbc42dcdac06adb086c354dd	Nonetheless, with its excellent response to surgical treatment, clinical awareness of this rare symptom of @DISEASE$ should be emphasized as a differential diagnosis for secondary @PHENOTYPICFEATURE$ in children.	false
+828492536609554e58257fe9c5eb0d8206738e24	@DISEASE$ should be kept in the differential diagnosis of children presenting with alternating focal neurological deficit with recurrent movement disorder as @PHENOTYPICFEATURE$ could be the initial presentation.	false
+c2bd42e6cc394b4ca61d1d1971cab85e09392d1c	@DISEASE$ should be kept in the differential diagnosis of children presenting with alternating focal neurological deficit with recurrent @PHENOTYPICFEATURE$ as movement disorder could be the initial presentation.	false
+391d2401a8bee6337c6195ad961222a69b8c300a	There are a few cases in the literature which have described @PHENOTYPICFEATURE$ as a manifestation of @DISEASE$; however these have been uncommonly reported in cases of moyamoya syndrome (MMS).	false
+d3571a08aed2e446c95a715c491598aecb54f334	Among 201 index admissions for RS for @DISEASE$, mean age (SD) was 41.7 (12.6) years; 75% were female; 24% had diabetes; 53% had hypertension; 40% had @PHENOTYPICFEATURE$; 3% had ICH; 16% had IS; and 1% had SAH.	false
+f068aa369d39e17a0ea7215e2519b2e3a748d18e	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, @PHENOTYPICFEATURE$, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+5c9b0791077f1a3d92d9c79dc1aebff6d7714794	The finding of a lipodermoid in @DISEASE$ demonstrates phenotypic overlap between Goldenhar and Emanuel syndromes and suggests a role for genetic analysis in all patients with clinical features that include @PHENOTYPICFEATURE$ and lipodermoids.	false
+3eb77e384d878b78210a633a1e0b6f89eb81031a	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, @PHENOTYPICFEATURE$, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and genital abnormalities in males.	false
+07da3c35689a1455add431e48f948984f2613660	To report our surgical experience with ocular surface stem cell transplantation (OSST) for @DISEASE$ (LSCD) in the setting of keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome.	false
+a2e0ab92ce84bc83ddfeb4b56a39475e26703bbc	Ocular findings including blepharitis, dry eye disease, corneal vascularization, persistent epithelial defects, limbal ischemia, @DISEASE$, corneal thinning, @PHENOTYPICFEATURE$ and corneal innervation abnormalities have been reported several years after SM exposure.	false
+704bfb032b6936b583c9296b8dcb6530dc3af5fa	In addition to previously reported crystalline, nummular, patch-like, and lattice-like @PHENOTYPICFEATURE$, prominent corneal vascularization was present in 2 patients mimicking interstitial keratitis and @DISEASE$.	false
+d4d68062df2ed40cbd25b5ca3005e5db003f2f8c	Aggressive fibromatosis, also known as @DISEASE$ (DTF) or desmoid tumor, is an uncommon locally invasive @PHENOTYPICFEATURE$.	false
+799e812b09da39ec2a10e47dddf80dd0458ae258	Aggressive fibromatosis, also known as desmoid-type fibromatosis (DTF) or @DISEASE$, is an uncommon locally invasive @PHENOTYPICFEATURE$.	false
+62394e371b0cf380862f0b418495781a6ae034db	@DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+2953fec330fb006506f09977296eb3d15a3de953	Therapy of @DISEASE$, fibromatosis, and related @PHENOTYPICFEATURE$.	false
+6c9762222192a53283ef371bfc82cfd950415728	@DISEASE$ is rare, and it was difficult for the differential diagnosis of desmoid tumor or recurrent @PHENOTYPICFEATURE$.	false
+dabe640a44afa93423faba3980184343734f4359	Desmoid tumor is rare, and it was difficult for the differential diagnosis of @DISEASE$ or recurrent @PHENOTYPICFEATURE$.	false
+521ef0c34afb55c3d7aecec7df1c70f80105c15f	Aggressive fibromatos @DISEASE$, Soft tissue @PHENOTYPICFEATURE$.	false
+9d9666f1421044a50dad2c5383e990b171100404	The @PHENOTYPICFEATURE$ was initially misdiagnosed as @DISEASE$.	false
+a0c32e024d6319f6a5fefc4cce6aee0bd62fba8e	A case of an extra-abdominal @DISEASE$ presenting as an intrathoracic @PHENOTYPICFEATURE$ (intrathoracic desmoid tumor) in a 46-year-old woman is reported.	false
+c873eda7d9decc0979a2fff82aaef3c76b55a3fc	A case of an extra-abdominal desmoid tumor presenting as an intrathoracic @PHENOTYPICFEATURE$ (intrathoracic @DISEASE$) in a 46-year-old woman is reported.	false
+b06d85cd88e1dabf0f640537f18bca875e3b5dba	@DISEASE$ are rare potentially aggressive benign @PHENOTYPICFEATURE$.	false
+f4243bee4bbdcf2a643d2fe302d3c2056604cb3a	@DISEASE$ is a locally invasive, myofibroblastic, nonmetastatic @PHENOTYPICFEATURE$.	false
+013a733972c0a5551f01afb500379fb6d1fb7359	The @PHENOTYPICFEATURE$ was histologically diagnosed as a @DISEASE$.	false
+88a9aa8a9f7234dc21737fb4a6c932c111771caa	The clinical findings were: severe generalized heavy plaque with subgingival calculus, gingival @PHENOTYPICFEATURE$, malocclusion and maxillary atresia, mild micrognathia of the mandible, enlarged tongue, and @DISEASE$.	false
+065e66d96832a8335fdfbed0e809b9d06236cef9	The physical features include mid-@PHENOTYPICFEATURE$, uncombable hair, cleft palate and @DISEASE$, lacrimal duct obstruction and dry skin.	false
+0e4bc9aa559a46bff4a90c81b0eef64d5dd85cc4	We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, @PHENOTYPICFEATURE$, micrognathia, bilateral preauricular tags, @DISEASE$, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay.	false
+c911708115fc11d4dac1b036a458116aefe04b80	He presented with short stature, psychomotor retardation, @PHENOTYPICFEATURE$, ptosis, dacryostenosis, partial left nerve deafness, high arched palate, @DISEASE$, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1.	false
+e496968eafabcf8329409ad6d5d9ebd6222dfdac	They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or @PHENOTYPICFEATURE$ (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or @DISEASE$ (3/20), and minor skeletal anomalies.	false
+957c288b9d64b4997360070a0f926d5a276222aa	They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), @PHENOTYPICFEATURE$ (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or @DISEASE$ (3/20), and minor skeletal anomalies.	false
+338979d061f82990bb0a91ca9d7c29a3c4cee89d	According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, @PHENOTYPICFEATURE$, retrognathia, @DISEASE$, ear malformations, and heart defects in addition to typical features of PWS.	false
+d7f4bfa46921cb39345477007537ea8212e20925	The present report describes on a 1-year-old girl with @PHENOTYPICFEATURE$, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, @DISEASE$, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication.	false
+5cad34925b5eb1f7749e9f17b8d07c604797b6cf	Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), @PHENOTYPICFEATURE$, @DISEASE$ and hypodontia.	false
+941a2f64e1b15c9f278b8f784215991668765e3a	He also had developmental delay, cardiovascular malformation, growth failure with @PHENOTYPICFEATURE$, short stature, and underweight, sensorineural hearing loss, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, @DISEASE$, single palmer creases, and distinctive facial features including straight eyebrows, ptosis, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate.	false
+2afa849e21282cc196b6dc3858d4bb6bbeb1a8bd	They also had hypotonia, incomplete cleft palate, @DISEASE$, depressed nasal bridge, @PHENOTYPICFEATURE$, hypoplastic labia major, micrognathia and pectus excavatum.	false
+c0e1a939065e5452140f35657e88b08c83564622	CONCLUSIONS Overall, resection of large VSs provided improved outcomes for patients with concomitant TN, facial @PHENOTYPICFEATURE$, and numbness compared with @DISEASE$.	false
+8141e0897f86d968e91b92fb97b0a90b0f84e75a	All animals were monitored by video and electrocorticography (ECoG) to assess @PHENOTYPICFEATURE$ (SE) and subsequent spontaneous recurrent seizures (@DISEASE$).	false
+7fa969fbe8c206010db22e2f255211155c8115b6	The case of a 20 year-old female with a @DISEASE$ and multiple midline malformations (cranio-facial dysplasia with cleft-palate, cervical and dorsal vertebral blocks and sacro-lumbar @PHENOTYPICFEATURE$) is reported.	false
+e00b7dd6da720eae238163389cf874311c1a1951	Patients with congenital muscular dystrophy or @DISEASE$ are at high risk of complications including restrictive lung disease, orthopedic deformities, @PHENOTYPICFEATURE$, cardiomyopathy, and malignant hyperthermia.	false
+d40d883644e7fefd5f5555c0d05bce8ff18ce5e0	@DISEASE$ are a group of genetic disorders characterized by generalised @PHENOTYPICFEATURE$ and weakness of varying severity.	false
+8d2fa85a061c04fb7612ad9bdc751a976e41ecf2	Nemaline myopathy is a heterogenous form of @DISEASE$ characterised by a variable spectrum of clinical features, predominated in the severe form by profound @PHENOTYPICFEATURE$ and weakness accompanied by respiratory insufficiency.	false
+7905e788fcd102b67b7d3d386a4d2aaac3ffc046	The proband and his sister presented with @DISEASE$ and mental retardation and subsequently developed @PHENOTYPICFEATURE$.	false
+6ac19d52dca850e9818d1046bc1db89cf56aa1d7	The proband and his sister presented with @DISEASE$ and @PHENOTYPICFEATURE$ and subsequently developed cerebellar ataxia.	false
+e9465d4f4f09fb6a119bc25ace16ce8945700772	Centronuclear myopathy (CNM) is a rare hereditary @DISEASE$ characterized by @PHENOTYPICFEATURE$ and abnormal centralization of nuclei in muscle fibers.	false
+4103c1aaaf80c14174b74eb8092d23f4d1d33e21	This was the first case of a distinct form of non-progressive @DISEASE$, "congenital neuromuscular disease (myopathy) with uniform type 1 fibers", accompanied with @PHENOTYPICFEATURE$ in Japan.	false
+1cffcf27e9bd15d8b76372ad80c79ee955e3c564	We report on a female child with @DISEASE$ with delayed developmental milestones and @PHENOTYPICFEATURE$.	false
+04adfeac1b8b1a270070eab7de01682ca1747ce0	Two siblings affected with a slowly progressive @DISEASE$ presented @PHENOTYPICFEATURE$, epilepsy and craniofacial dysmorphy.	false
+845735c6d10af0817b6ccac3d90dbe79cfc43bd7	@PHENOTYPICFEATURE$ and @DISEASE$ were associated with depressive symptoms at the between-person level, while only sleep disturbance was associated with depressive symptoms at the within-person level.	false
+3341377e7a4e6b008341c8fa267630d35a00f687	The p53 mutational frequency and patterns from our study were different from those reported in human @DISEASE$-type @PHENOTYPICFEATURE$.	false
+bceb8cb141b6721bf1cde29ccdcc4ee8d1eb314c	p53 immunoreactivity in cutaneous @DISEASE$ @PHENOTYPICFEATURE$ is similar to that in other non-melanoma skin neoplasms.	false
+68e188a953739ecb7d7ffa2f1740dfd534e6abf3	In the second case, a 69 year-old male with @DISEASE$ terminated treatment on the adjuvant treatment protocol because of severe nausea and vomiting, diarrhea, @PHENOTYPICFEATURE$ and fatigue.	false
+565d3ece94e797bffd84863b49ff32b842d580d4	@PHENOTYPICFEATURE$ and quality of life in postoperative management after esophagectomy for @DISEASE$.	false
+9cf33bf15196fea860863a527698ead77c8e0f5c	@DISEASE$ (NMS) is a potentially life-threatening entity characterized by hyperthermia, autonomic deregulation, decreased mental status, increased muscle tone, and, frequently, by @PHENOTYPICFEATURE$ due to rhabdomyolysis.	false
+b6e5eb3d0f888c188c61bb18e714af4a7264ec5e	Neuroleptic malignant syndrome (@DISEASE$) is a potentially life-threatening entity characterized by hyperthermia, autonomic deregulation, decreased mental status, increased muscle tone, and, frequently, by @PHENOTYPICFEATURE$ due to rhabdomyolysis.	false
+be8713d5360d9f12c5c4a9f9a5db7a019ca4d2a7	In part 1, drug-induced syndromes including @DISEASE$, @PHENOTYPICFEATURE$ hyperpyrexia syndrome, and serotonin syndrome will be discussed.	false
+9c5f8aa9f04b5fa411dd3102ac6afbd7d8c5079f	One week later she developed features of the @DISEASE$ (NMS) accompanied by myoglobinuric @PHENOTYPICFEATURE$.	false
+e76a6827c51019870f6570a99d1a3fe9b77876b8	One week later she developed features of the neuroleptic malignant syndrome (@DISEASE$) accompanied by myoglobinuric @PHENOTYPICFEATURE$.	false
+80113d4c3115d8e35b13195377a2042a0a5fb9e0	We report three neuroleptic malignant syndrome patients with positive muscle @PHENOTYPICFEATURE$ tests which shows that muscle from @DISEASE$ patients may in some instances show alterations similar to those of anaesthetic malignant hyperthermia.	false
+a694567224556c2a37f279f6bfaf3f9a467d0adb	We report three @DISEASE$ patients with positive muscle @PHENOTYPICFEATURE$ tests which shows that muscle from neuroleptic malignant syndrome patients may in some instances show alterations similar to those of anaesthetic malignant hyperthermia.	false
+fb7ca9fc4ae3947f380b69850a658dc766cfc5c3	Metoclopramide in a patient with @PHENOTYPICFEATURE$ may be an increased risk of @DISEASE$.	false
+2a7ae8b386259daa641b2da3e6aba30a5697451f	A 50-year old woman developed symptoms of a @DISEASE$ with myoglobinuric @PHENOTYPICFEATURE$ during treatment with perphenazine.	false
+c14bf46bdf6a16a4cc1ed95937a888d1afabb8eb	Thus, metoclopramide should be used with caution in patients with @PHENOTYPICFEATURE$ and patients should be monitored closely for the development of @DISEASE$.	false
+fd7cc614d2242f4d582a8d8f1f08aac1881db9fd	Here we review the clinical phenomenology, and diagnostic principles of @DISEASE$, malignant catatonia, serotonin syndrome, @PHENOTYPICFEATURE$ hyperpyrexia, acute parkinsonism, acute chorea-ballism, drug-induced dystonia, and status dystonicus.	false
+553299822f8e29d73b2244d45e295c834d8c03b9	The relationship between neuroleptic malignant syndrome (@DISEASE$) and malignant hyperthermia (MH) was investigated using the in vitro skeletal muscle @PHENOTYPICFEATURE$ test to screen for MH-susceptibility in NMS patients.	false
+258345331bf986bc667f160da0e24c6164f0fa3a	The relationship between neuroleptic malignant syndrome (NMS) and malignant hyperthermia (MH) was investigated using the in vitro skeletal muscle @PHENOTYPICFEATURE$ test to screen for MH-susceptibility in @DISEASE$ patients.	false
+11d00fb4d712729e84e719b23a48ef3071eda7c7	The relationship between @DISEASE$ (NMS) and malignant hyperthermia (MH) was investigated using the in vitro skeletal muscle @PHENOTYPICFEATURE$ test to screen for MH-susceptibility in NMS patients.	false
+20470437dcb98334b489902324aad68193129aa4	The major complications affecting the prognosis of @DISEASE$ are respiratory disturbance and @PHENOTYPICFEATURE$.	false
+6c71303e35043e5e5edc15d23a242ba0bae08430	@DISEASE$ with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+dbdab9f91d05310ea998a738e1407b4c994c760f	This X-linked syndrome is characterized by pre- and postnatal overgrowth, visceral and @PHENOTYPICFEATURE$, and a high risk for the development of embryonal tumors, mostly @DISEASE$ and neuroblastoma.	false
+ebc965f77376bdf88606269bcfeb1154cea2c9dd	The second deletion is 5.0?Mb and was identified in a 15-year-old female who presented with @PHENOTYPICFEATURE$, coarse facial features, Sertoli-Leydig cell tumor, and @DISEASE$.	false
+f77d91224c2d1737cfd0b6a6e59b64a56788b7ce	A case of 6-year old girl with noninflammatory verrucous nevus, @PHENOTYPICFEATURE$ of the left leg and @DISEASE$ is presented.	false
+c712e8923f81692b7598f34ecdef4a7e365ff6fa	CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and @PHENOTYPICFEATURE$) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for @DISEASE$.	false
+9c77076fbbaaaf6f52f9c2b581cd98d9b7847010	While the @DISEASE$/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and @PHENOTYPICFEATURE$ in WAGR syndrome remains unknown.	false
+959c3996539bb2a3f04b24c31ca30a1882aabc59	Localization of a novel t(1;7) translocation associated with @DISEASE$ predisposition and @PHENOTYPICFEATURE$.	false
+896a0802892f621423225b1423143cde3056fd73	Haploinsufficiency of HDAC4 gene has been reported to result in @DISEASE$ (BDMR), a condition with significant @PHENOTYPICFEATURE$, brachydactyly type E, and typical facial features.	false
+ab684e4a169a47a6cd9c4816f8a09ccdf035a81a	The objective of this study was to determine whether subjects with @DISEASE$ (CCHS) had an increased frequency of @PHENOTYPICFEATURE$ and decreased heart rate variability when compared to subjects without a known deficit in control of breathing, and that these abnormalities would be exaggerated by anesthesia.	false
+f5f3a6ff61808b20b03bc9abe6aa71aa34132ea2	The objective of this study was to determine whether subjects with congenital central hypoventilation syndrome (@DISEASE$) had an increased frequency of @PHENOTYPICFEATURE$ and decreased heart rate variability when compared to subjects without a known deficit in control of breathing, and that these abnormalities would be exaggerated by anesthesia.	false
+cdc01e2241282a36fe1e81556aad24ab75deecef	These results substantiate our hypothesis that subjects with @DISEASE$ have more arrhythmias than controls, an increased frequency of bradyarrhythmias, and decreased cyclical sinus @PHENOTYPICFEATURE$.	false
+91798c405210c76486e7bb366fbbedc5494361b0	The prescriptions containing Pterocephali Herba were used to primarily treat disease for @DISEASE$ caused by the dampness heat toxin, @PHENOTYPICFEATURE$, arthritis etc, such as pestilent toxicity, pneumonia and influenza, rheumatoid arthritis etc.	false
+b2148a3e66b9592ef22071dd74d59b0748543fa8	Thanks to modern science and computer technology, electrotherapy has reached a degree of sophistication where it can be applied relatively safely and effectively in a variety of nervous system diseases, including pain, movement disorders, epilepsy, @DISEASE$, psychiatric disease, addiction, coma, urinary incontinence, impotence, infertility, respiratory paralysis, tinnitus and @PHENOTYPICFEATURE$.	false
+cc9c2dc4df34d267bb7099564b59044fb2d99542	Here, I reviewed the characteristic symptoms and their pathophysiologies of Rett syndrome, DYT-1, autosomal dominant GTP cyclohydrolase I (ADGCH I) deficiency, @DISEASE$ (TS) and Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH), and suggested that the brainstem aminergic neurons modulating the locomotion have roles for development of the frontal cortex, the dopaminergic neurons and basal ganglia pathways involving in the action dystonia for motor execution and the serotonergic and the dopaminergic neurons projectioning to the nonmotor basal ganglia thalamocortical circuits for development of the frontal area, the targets of the circuits.	false
+4416a2830c4f1a5c93a4ffc56cb178cd9678e1b2	Relative @PHENOTYPICFEATURE$ appears common in @DISEASE$, and its presence with other features may implicate a neurotransmitter system that interacts with neuroendocrine pathways, controlling height.	false
+e3096b56cab789ba5f2fda3de5fd57fa9d170426	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$ (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (MD), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and @DISEASE$ (TS).	false
+9aa49801c69ba8107be5552d4992707d4de311ed	@DISEASE$ (TS) and tic disorders represent events of familiar magnitude characterized by @PHENOTYPICFEATURE$ and/or vocalization.	false
+a2a053d9c935dd54bdbb5a56e6be6edf874f5ed4	[@DISEASE$, deafness, and @PHENOTYPICFEATURE$].	false
+1126c5a0e19976acce6eeb193d2e96bcb2a11a46	We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, @DISEASE$, @PHENOTYPICFEATURE$, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy.	false
+e639184de6ed999bfb84bc255c7fd7e9fe48a4b8	These include coloboma, drusen, atrophy and pigmentation (@DISEASE$), @PHENOTYPICFEATURE$, vascular anomalies, and crystals.	false
+eec0d3b7fe4f6380aab27a086d5dd9c219220bed	To report photographically the evolution of an astrocytic @PHENOTYPICFEATURE$ of the left optic nerve head over a 2-year follow-up in a patient with @DISEASE$.	false
+838a3d2ded9d58ae485517146e05ea6bf93942b6	The doublecortin gene family is associated with subcortical band heterotopia, lissencephaly, epilepsy, developmental @PHENOTYPICFEATURE$ and @DISEASE$.	false
+447c9fcfbe4239009fa2d5620c5badd410831862	Neurological examination revealed cerebellar ataxia, distal dominant muscle weakness in the limbs, hyporeflexia, @PHENOTYPICFEATURE$, myoclonus, sensorineural deafness, and @DISEASE$.	false
+e851689e501af36efcaba7d4abdf90278c35ce52	[Papillary @PHENOTYPICFEATURE$ and @DISEASE$ (1 case)].	false
+9abf88d56769d3b1d3708e03371d4f3c908c970f	Siblings with a progressive neurodegenerative condition associated with @PHENOTYPICFEATURE$, @DISEASE$ and decreased levels of fucosidase--a new presentation?	false
+29d9d70fe64b69a50b761946eef048f7b3e52e3e	Subsequent multi-system manifestations included @PHENOTYPICFEATURE$, proteinuria, cataract and @DISEASE$, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later.	false
+e7b87b037449d0b4b80a0f39564a29abeed4d1e2	Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, @PHENOTYPICFEATURE$, nystagmus, hypotonia, seizure and @DISEASE$.	false
+964f01cf00c80feab3c52d6ce74b9f5c5a0727ca	@DISEASE$, @PHENOTYPICFEATURE$, and cleft palate.	false
+10b5e1116151e6133fc282a9e78aa8e25458622f	The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote @DISEASE$ homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, @PHENOTYPICFEATURE$, thromboembolic events, and sometimes mental retardation.	false
+fe49aa033755b7ce3942f6a4af8d5cc7ba2827b7	@DISEASE$ is an inherited metabolic disorder that arises from defects in either the re-methylation or trans-sulphuration pathways of homocysteine metabolism and leads to @PHENOTYPICFEATURE$, mental retardation and a high risk of vascular disease.	false
+73349688ae3afe902eb34fb57864e5ab180c04de	Case report of @PHENOTYPICFEATURE$ in @DISEASE$ (DRPLA).	false
+cd052a21099ee3b00b2ccc3a3f2e193014b88ae9	Severe intrahepatic cholestasis with fatty liver was the most common symptom, but the accompanying clinical features were variable, namely; suspected cases of neonatal @PHENOTYPICFEATURE$ or biliary atresia, positive results from newborn screening, @DISEASE$, failure to thrive, hemolytic anemia, bleeding tendencies and ketotic hypoglycemia.	false
+8db720d4d53919c421a5e5fded5dda296b653bf8	Different aetiologies were discussed including retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, incontinentia pigmenti, @DISEASE$, toxocariasis, combined @PHENOTYPICFEATURE$ of the retina and the pigment epithelium.	false
+c82b8f08aeb48220ec16d9d133a3fa483f3048db	Periodic @PHENOTYPICFEATURE$ and abnormal circadian temperature rhythm in a patient with @DISEASE$.	false
+06983b1a5c868244096f023bba8b6215d7a21e02	Tonic spasms (TS) are @PHENOTYPICFEATURE$ patterns that can present in patients with @DISEASE$ (MS).	false
+e77a814e0f52f93d0981ee8a752e76919243d9e8	Clinico-anatomical correlations in @DISEASE$ patients presenting with central positional @PHENOTYPICFEATURE$ are lacking.	false
+2d2d9db271f29f48e1b20f519a4e979381d36c79	Importantly, a common gene network was identified among HIV infection, Alzheimer's disease, Parkinson's disease, @DISEASE$, and age @PHENOTYPICFEATURE$.	false
+a7f9f3b679854a0954ca083e511b538ba684647e	@DISEASE$ (MS) patients often suffer from abnormalities of mood including @PHENOTYPICFEATURE$, depression, anxiety, pathological laughing and crying (PLC), and psychoses.	false
+b671b4054a27b03b4717982c2d05760c1c693880	Saccadic and @PHENOTYPICFEATURE$ in @DISEASE$: sensitive clinical signs of brainstem and cerebellar involvement.	false
+fe6b7b5a88c8f9cd71b4a992aa8f1aa0f07b595f	Besides @PHENOTYPICFEATURE$ clinical and laboratory signs of @DISEASE$ were found.	false
+1e15b15a8aee63b3dc007b45490b18d7c02779de	Diseases in which such "combination" therapy might lessen the rate of decline include Alzheimer's disease, Parkinson's disease, @DISEASE$, @PHENOTYPICFEATURE$, and diabetes.	false
+13b5a1a03dcc86d1e3765334afaaba5c6ec9aa80	Quantitative characterization of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e231b6722b349143bd6faa10ae5282c8e082a0f0	Serial @PHENOTYPICFEATURE$ testing in @DISEASE$: a method for monitoring subclinical fluctuations.	false
+008c5dc2e72803851abee731ef2e091886bc0e07	@PHENOTYPICFEATURE$ (with duodenal atresia) and ultrashort-bowel syndrome (<40 cm) requiring long-term total parenteral nutrition, which can be complicated by liver disease (with @DISEASE$), are the major causes of morbidity and mortality in these patients.	false
+89901d651399b2c5180cd6cdb5ec5ae16463601d	Several myotilin point mutations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), @DISEASE$ (MFM), spheroid body myopathy (SBM), three similar adult-onset, progressive and autosomal dominant @PHENOTYPICFEATURE$.	false
+4f56fcaead0282232b9f02091e7ab0729d3848ae	@PHENOTYPICFEATURE$ (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and @DISEASE$ liver failure.	false
+7f1e7c8b64dd50f6b2925549dd9a311fe9894dbc	@DISEASE$ and @PHENOTYPICFEATURE$ in a neonate: uncommon presentation or common precipitant.	false
+ae9d48685364fa9719eeae49e2822e92486bdb95	Persistent @PHENOTYPICFEATURE$, with the attendant risk of nephrocalcinosis and @DISEASE$ renal failure, is common in hypoparathyroid patients, especially those with activating mutations of the calcium-sensing receptor (CASR) gene, being treated with oral calcium and calcitriol.	false
+1cd28e681ef93c89e3467257cf8a433aeecce6f7	@PHENOTYPICFEATURE$ (BA) causes progressive fibrosis and obliteration of the biliary tree, resulting in bile stasis and @DISEASE$ liver dysfunction.	false
+f854dc32b8017916b92bb93dc591d8569a02de08	@PHENOTYPICFEATURE$ (BA) is a neonatal obstructive biliary tract disease in which the intrahepatic and extrahepatic bile ducts are obstructed and can lead to congenital biliary atresia of cholestatic cirrhosis and @DISEASE$ liver failure.	false
+3d2c1e2823ec364fd0f33b99606b6732751cf839	Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, @PHENOTYPICFEATURE$, nephrocalcinosis, kidney stones, and @DISEASE$ renal failure.	false
+cf6957d18d96c73b9024607c7c176e10a9af5716	@DISEASE$ is a rare neurodevelopmental disorder, characterized by congenital heart defects, @PHENOTYPICFEATURE$ features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia.	false
+5539aabbc21dc48645b6990afba4b136595e4d1c	@DISEASE$ is a neurodevelopmental disorder associated with cardiovascular problems, @PHENOTYPICFEATURE$ and several behavioural and neurological disabilities.	false
+41e0def7895232654566d6e0fa63641252d12cab	@PHENOTYPICFEATURE$ associated with @DISEASE$: a case report and review of the literature.	false
+1568042e0272741e9db080d139b3695f0a3e2125	Diagnostic challenges in a severely delayed infant with hypersomnolence, @PHENOTYPICFEATURE$ and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and @DISEASE$.	false
+0f9ad823892d1a60f8aeb7d4d471ff27d0414a6e	We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of @DISEASE$, associated with unilateral @PHENOTYPICFEATURE$ and bilateral cleft of the soft and hard palate.	false
+e58c696aa69a0c26b0888f835552a4e5bb0b7968	@DISEASE$ (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's @PHENOTYPICFEATURE$, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out.	false
+a77a35dc83bc0fb59076b3a42b8618543191dcda	@DISEASE$ (WS) is a rare genetic disorder characterized by heart disease, @PHENOTYPICFEATURE$, hearing loss, intellectual or learning disability, speech and language delay, gregariousness, and non-social anxiety.	false
+685e9c9409e37fdff5e76d0ce34a7e0afea9679c	The phenotype of @DISEASE$ is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine @PHENOTYPICFEATURE$ retardation and connective tissue abnormalities.	false
+7ae4c5495d3693ffb5eec49e4d77d0d6649e7d4f	A 2 1/2 year old girl is reported with a de novo 13;18 unbalanced translocation and the facial features of @DISEASE$, subaortic stenosis, @PHENOTYPICFEATURE$, and developmental delay.	false
+a1dc9d1e846ccff4ccdb073187b75958e434c174	Severe motor @PHENOTYPICFEATURE$ and cranial magnetic resonance imagingpathology in patients with @DISEASE$ have not been reported previously in the literature.	false
+12b182188bd6633a7316514f81b86a204c5b303d	@DISEASE$ of the female genital tract causing urethral and @PHENOTYPICFEATURE$.	false
+c59766987e34a8b9bab6d4da344b4f7712f1465e	Cerebral @DISEASE$ has been recognized as a complication of probable neonatal herpes encephalitis and may be associated with persistent neurologic deficits including @PHENOTYPICFEATURE$.	false
+9cd7efdeec233d9088e39df44ef3590bb4a09de8	Benign pulmonary diseases that have been associated with the accumulation of endogenous lipids within the alveoli, bronchioles, and interstitial tissues include endogenous lipoid pneumonia (ELP), pulmonary alveolar proteinosis (PAP), pulmonary interstitial and intra-alveolar cholesterol granulomas (PICG), various @PHENOTYPICFEATURE$ lesions, and @DISEASE$.	false
+bbfe6ac4294bea63d5c216a411f070d9912c4647	Unusual causes of LT include metabolic diseases like Wilson's disease, @DISEASE$ and hyperoxaluria type I, @PHENOTYPICFEATURE$ and liver disease, and some tumors (epithelioid hemangioendothelioma and neuroendocrine tumors).	false
+cedb54bd98012b168a1bc48f4f5d9202618e1bc5	@DISEASE$ manifestations include @PHENOTYPICFEATURE$, before or after puberty (gonadal dysgenesis).	false
+d29986167a70278dcd6f8251536cf5ea4bf6b053	Turner syndrome manifestations include @PHENOTYPICFEATURE$, before or after puberty (@DISEASE$).	false
+8dc92a06353b6162a3810368eec51928d64af839	Five percent or more of women with @DISEASE$ may have abbreviated menstrual function before developing amenorrhea and @PHENOTYPICFEATURE$.	false
+212d71dab4951d05e14239577a17e5ce0759de9a	Congenital @PHENOTYPICFEATURE$ and aortic dilatation are frequent in patients with @DISEASE$ (TS).	false
+1daf99c012ce312301eb1cc3d5f6a5e3ba8c623d	A new de novo @PHENOTYPICFEATURE$ (A113T) in HMG box of the SRY gene leads to XY @DISEASE$.	false
+3d27664e7d43e13a58142e6c77ab1971aae8e7ad	@PHENOTYPICFEATURE$ and complications in @DISEASE$.	false
+99a064312c1a719f9cce2e53b47ca22c2dc9ebca	@DISEASE$ is a common cause of ovarian failure, and @PHENOTYPICFEATURE$ occurs in virtually all affected individuals.	false
+9ad7c4aaf61d546a235bc2beaa9802a77e934433	@PHENOTYPICFEATURE$ were found among 17% in @DISEASE$ women (45,X dominated) vs. 0.5% in controls (P < 0.001).	false
+ec525f83af9b76b171a3bdc0677ecfc5c81fe75a	@DISEASE$ is the most frequent @PHENOTYPICFEATURE$ in girls.	false
+5c3d3f50c67784a19b07e057bbe57b3b6181a7a3	Keywords: premature ovarian failure, @PHENOTYPICFEATURE$, amenorrhea, @DISEASE$, cryopreservation.	false
+e92288ed85a5c4ed47cd27bd95919ab85480b975	An unbalanced Y to X translocation due to a de novo @PHENOTYPICFEATURE$ is described in a female with some clinical features of the @DISEASE$.	false
+ef79c62aa58995b88f8cdc0a4f108af7e9ecaee0	@DISEASE$ is a form of Cushing's in which a @PHENOTYPICFEATURE$ outside the pituitary gland produces adrenocorticotropic hormone (ACTH).	false
+dc27237cdb741059d827729615c6ee198d0edeb2	Identification of D(2) receptors in corticotroph @PHENOTYPICFEATURE$ led to clinical trials of cabergoline therapy in limited cases of Nelson's syndrome, @DISEASE$, and recently Cushing's disease (CD).	false
+6f6a308e691644b0a6b3cb369fff6a5dda8cc73b	These results suggest that adrenomedullin is produced by @DISEASE$, together with other neuropeptides, and raise the possibility that adrenomedullin is related to the pathophysiology of these @PHENOTYPICFEATURE$.	false
+3d4571f3112a94a0980e9d6e80bdfac2ef628c71	@DISEASE$ secondary to corticotropin releasing hormone (CRH)-secreting tumors or CRH and adrenocorticotropin hormone cosecreting @PHENOTYPICFEATURE$ is extremely rare.	false
+399e301a47cf9edb69c8e192dd81236156971e3d	@DISEASE$ secondary to corticotropin releasing hormone (CRH)-secreting @PHENOTYPICFEATURE$ or CRH and adrenocorticotropin hormone cosecreting tumors is extremely rare.	false
+ec6a2c5b1adde9076b8d15ffb46a776d6a044272	Patients were indicated for (68)Ga-DOTATATE PET/CT imaging to detect primary @PHENOTYPICFEATURE$ or metastasis of suspected or previously known NET, to determine SSTR positivity and to detect occult source of @DISEASE$.	false
+9fd5b7b9523e3d69caa0fcac296055db3447bd02	Two types of @DISEASE$ (ECS) are described: ECS associated with aggressive @PHENOTYPICFEATURE$, and ECS with indolent and occult tumors, however, there is a lack of studies that thoroughly review their characteristics.	false
+428588e2295a813b6b7de4ac2a1c7f69cb614bb3	Two types of @DISEASE$ (ECS) are described: ECS associated with aggressive neoplasms, and ECS with indolent and occult @PHENOTYPICFEATURE$, however, there is a lack of studies that thoroughly review their characteristics.	false
+d82550bd3c0cbf24df21f5e50b3deb320eb575d5	In our series, @DISEASE$ was most commonly seen in association with intrathoracic @PHENOTYPICFEATURE$ such as bronchial or thymic carcinoid.	false
+ddf246e7ee55427a5fcc03c9b54e7082e6deb75a	Immunoreactive adrenomedullin was detected in @PHENOTYPICFEATURE$ tissues of three @DISEASE$ (0.60-18.5 pmol/g wet weight).	false
+857b02e5e57709cba885e3cdbace2179c8df76b1	Learning how to suspect ectopic Cushing syndrome and confirm it among all the causes of excess cortisol.Distinguish between occult and severe @DISEASE$ and etiology.Providing the adequate treatment of the primary @PHENOTYPICFEATURE$ as well as for the cortisol excess.Prognosis depends on the differentiation and type of the primary malignancy.	false
+6cded1ed575ec5d6dc9288a1b6518749b860a251	Learning how to suspect @DISEASE$ and confirm it among all the causes of excess cortisol.Distinguish between occult and severe ectopic Cushing syndrome and etiology.Providing the adequate treatment of the primary @PHENOTYPICFEATURE$ as well as for the cortisol excess.Prognosis depends on the differentiation and type of the primary malignancy.	false
+1e0743f63c1fc65f5333b6392a98d3b57a3af040	In conclusion, although both pituitary and @DISEASE$ are at least partially glucocorticoid-resistant, no significant abnormalities in the relative expression of the two main GR subforms were observed in a series of such @PHENOTYPICFEATURE$.	false
+f0f36542c4a0dba5c2bb6b1784dd88c5a4e7cc08	Other potential causes for vasospasm are hemorrhages, homocysteinemia, head injury, acute intermittent porphyria, sickle cell disease, anorexia nervosa, @DISEASE$, mitochondriopathies, @PHENOTYPICFEATURE$, colitis ulcerosa, Crohn's disease, arteriosclerosis and drugs.	false
+7f9e966faa49a4acdf35f6dca74f9bc6d9f9ad7d	Mild @DISEASE$ @PHENOTYPICFEATURE$ is seen in WD carriers.	false
+746f520927ed865437f3b8713c914ea11b757e84	Acute and bilateral @PHENOTYPICFEATURE$ due to optic neuropathy associated with @DISEASE$ deficiency.	false
+32c2e04d9c28c24f92ebd3a13bc1bf524d75e8ce	Furthermore, on the basis of literatures published, relationship between copper-binding metallothioneins and mechanisms for the absorption and excretion of copper or hereditary @DISEASE$ metabolic disorders @PHENOTYPICFEATURE$ symptom are explained.	false
+200a940ae02f79be3f63c4be414960fb75dec80a	We conclude that 1) hypocupremia does not occur within the first month of TPN; 2) its incidence is about 16% in patients intravenously fed for period longer than 2 wk; 3) it is more frequent in patients with enterocutaneous fistulas, whereas it never occurs in patients with cancer @PHENOTYPICFEATURE$, and 4) it is not necessarily associated to a clinicometabolic syndrome of @DISEASE$ deficiency.	false
+3473ff57f5292c03a50ed5474b075fd93d971744	[Occurrence of @DISEASE$ @PHENOTYPICFEATURE$ in the families of four individuals with newly diagnosed Wilson's disease].	false
+30a2e1f45311c545d28d5b1e058bbb15ecf8a01b	Based on the @DISEASE$ @PHENOTYPICFEATURE$ and clinical manifestation, we diagnosed Wilson's disease (Ferenci score, 6 pts) and started treatment with d-penicillamine.	false
+6b96318de98c1938307c3f05c9bcdc1eaa94fa0c	Neuronal cell death in the brain of macular mutant mouse, a model of @DISEASE$ @PHENOTYPICFEATURE$, has features of both apoptosis and necrosis.	false
+1687985524000b5ddc548b902c8995f2e2223243	The @DISEASE$ deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and @PHENOTYPICFEATURE$.	false
+be63652c572450e672bdada0108b85b09dbfdc89	Thirteen patients were identified to have @DISEASE$ deficiency suggesting a prevalence of copper deficiency of 9.6%, and the majority of these had concomitant complications including anemia, leukopenia and various neuro-@PHENOTYPICFEATURE$.	false
+fe09c79c48653279b8680537eef1c3509728c40f	Thirteen patients were identified to have copper deficiency suggesting a prevalence of @DISEASE$ deficiency of 9.6%, and the majority of these had concomitant complications including anemia, leukopenia and various neuro-@PHENOTYPICFEATURE$.	false
+5f6184902900b70cebbab560b46646a1774a9cc6	@DISEASE$ (ARPKD) is characterized by @PHENOTYPICFEATURE$ of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality.	false
+45a7855d28c96a98810653128f1c6273a53b3912	Autosomal recessive polycystic kidney disease (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality.	false
+e485a411f51ad797e3a0faa3054bdc95ba4409ad	Altered activity of the Hippo pathway was confirmed in renal tissues from human ADPKD and @DISEASE$ patients, as well as in cystic renal @PHENOTYPICFEATURE$.	false
+34d483b999be8cc5c52866a5285d7b3caadf2cd4	Due to existing co-morbidities including @DISEASE$ and hypertension, and indications from the biopsy that the @PHENOTYPICFEATURE$ might be insensitive to chemotherapy, the parents elected not to proceed with neoadjuvant chemotherapy.	false
+ddf62c0481d779dcceee701c346afe2d320e2563	@DISEASE$ (ARPKD) is usually characterized by early onset chronic renal failure due to innumerable @PHENOTYPICFEATURE$ collecting ducts.	false
+0402e62abf7384e73c191bcc80b20de8b218c545	Autosomal recessive polycystic kidney disease (@DISEASE$) is usually characterized by early onset chronic renal failure due to innumerable @PHENOTYPICFEATURE$ collecting ducts.	false
+f88d0222790f622b3ae873f86a34df1b84580c8f	@DISEASE$ represents DPM of interlobular bile ducts, associated with tubular @PHENOTYPICFEATURE$ of collecting renal tubules.	false
+9ecb8e041c7446a976874d4a8cc6ba6979e291ca	We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the @DISEASE$ @PHENOTYPICFEATURE$.	false
+2555618bb592084b7aaf3d3245ea604efbc09962	On the other hand, cytochrome P450 epoxygenase derived oxylipins were lower only in the @DISEASE$ and @PHENOTYPICFEATURE$ models, while lipoxygenase and cytochrome P450 hydroxylase derived oxylipins were lower only in nephronophthisis.	false
+b9f2465b0fb969305b23e21a2e5cec7a8d27ab3a	Autosomal recessive polycystic kidney disease (@DISEASE$) is characterized by enlarged kidneys with @PHENOTYPICFEATURE$ collecting ducts and congenital hepatic fibrosis.	false
+4768d5bdeb899097b2716c642fb938ea8a8d3cb1	@DISEASE$ (ARPKD) is characterized by enlarged kidneys with @PHENOTYPICFEATURE$ collecting ducts and congenital hepatic fibrosis.	false
+bb4be3659804218d68c523e48ea0d9726eca7c40	The hepatic lesions can be associated with @PHENOTYPICFEATURE$ such as autosomal recessive polycystic kidney disease (@DISEASE$), medullary sponge kidney, and nephronophthisis.	false
+1efa1f2e7accd8070e07d383615fe479f53ab1ca	The hepatic lesions can be associated with @PHENOTYPICFEATURE$ such as @DISEASE$ (ARPKD), medullary sponge kidney, and nephronophthisis.	false
+1ba82a80c19fdfc3543c94aa51a98f2ebc90aee9	Concomitant associated @PHENOTYPICFEATURE$ can also be present, such as @DISEASE$ (ARPKD), medullary sponge kidney and nephronophthisis.	false
+d45deb2b0b36debac421ea53cda937d4b5824054	Concomitant associated @PHENOTYPICFEATURE$ can also be present, such as autosomal recessive polycystic kidney disease (@DISEASE$), medullary sponge kidney and nephronophthisis.	false
+ec9cf614f15ce99f2859dc1936f72f51d35a8adc	Taken together, our results suggest that: 1) PKc plays an important role in the transduction of activating signals for M phi activation by MAF and A23187 to mediate cytotoxicity against some (P815) but not other (@DISEASE$) @PHENOTYPICFEATURE$ cells, 2) the induction of TNF-alpha mRNA expression and TNF secretion may be achieved via a PKc-independent pathway, and 3) M phi are equipped with more than one signal transduction pathways for affecting distinct functional activities.	false
+e6af794e5a623ba0020de4cfaf80ee223cc11665	In this study, large numbers of hybridomas (produced by syngeneic immunization with B16 mouse melanoma and fusion with @DISEASE$ myeloma cells) were screened for the production of antibodies that affected morphology and growth of animal and human @PHENOTYPICFEATURE$ cells in vitro.	false
+0dc9c3b8ddbdad7afe24a273f9726f0743f1dcc4	Corresponding to these observations, anti-tumor cytotoxic T lymphocytes, which lyse parental P1.HTR cells but not syngeneic L1210 or @DISEASE$ tumor cells, were developed in the peritoneal cavity of mice that had been inoculated with the transfectant and parental @PHENOTYPICFEATURE$.	false
+09e4b90a96ae096e4b58915020e5f72d75173499	Corresponding to these observations, anti-tumor cytotoxic T lymphocytes, which lyse parental P1.HTR cells but not syngeneic L1210 or @DISEASE$ @PHENOTYPICFEATURE$ cells, were developed in the peritoneal cavity of mice that had been inoculated with the transfectant and parental tumor.	false
+53a75d1e75e38dc4a952ff0d240e6b0f7f95c331	Early interventions with beta-alethine (1 ng/kg to 100 micrograms/kg) successfully treat NS-1 myeloma in a syngeneic murine @PHENOTYPICFEATURE$ model (@DISEASE$ myeloma).	false
+a5a60ab22174d62bc8fbbdfd2290b84078cfcbe1	Other syndromes, as McCune Albright syndrome, @DISEASE$, and @PHENOTYPICFEATURE$-teleangiectasia syndrome may be associated with the development of follicular cell-derived tumors, but the link is less established than the above syndromes.	false
+d21c43eea13b88d41aa6ae4f0ea4e9d1bfe39a33	Ruvalcaba-Myrhe-Smith syndrome comprises macrocephaly, @PHENOTYPICFEATURE$, an unusual craniofacial appearance, @DISEASE$, and pigmented macules on the penis.	false
+fcdfcff3de4a71e60fde86d97a5a27ab43492536	To identify a major regulator of human growth, we performed positional cloning in an autosomal recessive type of profound @PHENOTYPICFEATURE$, @DISEASE$.	false
+0d10ee6c3500629998a47a09e7c7f858d1f62095	[A case of Favre-Racouchot disease associated with @DISEASE$ and essential @PHENOTYPICFEATURE$].	false
+afa9556c566de6b531021b43c130b41a72bfb916	One tear occurred after combined @PHENOTYPICFEATURE$/filtration surgery complicated by postoperative choroidal detachment; the second developed in a patient with @DISEASE$.	false
+a2cfa42434ec75478a5e45c2fc098596da493cf2	A 64-year-old male patient diagnosed with @DISEASE$ years ago was admitted with @PHENOTYPICFEATURE$ and chills.	false
+308e139baea54518fd359c23fda4b32400371c7a	Features include a prominent forehead, hypertelorism, large dysplastic ears, prominent nasal root, a @DISEASE$ ridge, bilateral metatarsus adductus, and streaks and whorls of @PHENOTYPICFEATURE$.	false
+1f1954682047b9fbaffff3155b29b2b724e03e90	We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median @DISEASE$ ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and @PHENOTYPICFEATURE$, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts.	false
+d80a5ba676d79fdc3462247b8b93167b06f07131	The various clinical manifestations of SLE that were reported to be successfully treated by IVIg in case reports include autoimmune hemolytic anemia, acquired factor VIII inhibitors, @DISEASE$, pure red cell aplasia, thrombocytopenia, pancytopenia, myelofibrosis, pneumonitis, pleural effusion, pericarditis, myocarditis, cardiogenic shock, nephritis, end-stage renal disease, encephalitis, neuropsychiatric lupus, psychosis, @PHENOTYPICFEATURE$, polyradiculoneuropathy, and vasculitis.	false
+4ad2ff80475f1eb07e3f5b6c45b0bb0d1489ddba	Pancytopenia complicated with @PHENOTYPICFEATURE$ due to @DISEASE$ deficiency: clinical diagnostic review.	false
+26c1c77360751ee2858f35c127800d566167a785	Surviving animals exhibited growth failure, skin laxity, @PHENOTYPICFEATURE$, and seizures because of perinatal @DISEASE$ deficiency.	false
+f99a3813c8c02331beb1df929e8a571e164b656e	We review 11 previous cases of @DISEASE$-deficient cytopenia, categorized into two groups according to etiology, and define the characteristic symptom of copper malabsorption caused by excess Zn as @PHENOTYPICFEATURE$.	false
+400463cf1b2f42bd9b55097231c351cbdb0e28ea	We review 11 previous cases of copper-deficient cytopenia, categorized into two groups according to etiology, and define the characteristic symptom of @DISEASE$ malabsorption caused by excess Zn as @PHENOTYPICFEATURE$.	false
+566ed8546d5e1876936c6278eaa8538d4539dc9f	Clinical, physiological and pathological characterisation of the sensory predominant @PHENOTYPICFEATURE$ in @DISEASE$ deficiency.	false
+6524255a30c9b0275bf4ec3ddc44aaa41062d502	Severe ataxia, myelopathy, and @PHENOTYPICFEATURE$ due to acquired @DISEASE$ deficiency in a patient with history of gastrectomy.	false
+cf1c36ffab4161b7af6b8f96b93b56741ae7168f	Patients with simultaneous @DISEASE$ deficiency (<0.78??g/mL) and @PHENOTYPICFEATURE$ seen at the Mayo Clinic from 1985 to 2005 were identified.	false
+32f43be3c5a45532052e14a96bcb69235e4d0863	[@DISEASE$ deficiency and @PHENOTYPICFEATURE$ as an outcome of gastrectomy].	false
+0cafee4ed14eef8aad68f1ccd6285eaf47540137	@DISEASE$ deficiency in Wilson's disease: @PHENOTYPICFEATURE$ and myelodysplastic syndrome complicating zinc treatment.	false
+b6221621607b6d7689a8f50ec57dc0f655cda64d	To characterise the clinical, physiological and pathological features of @DISEASE$-deficient @PHENOTYPICFEATURE$.	false
+e87bb2600436bf4b409c718198a02efd17f0a098	We are unable to demonstrate a relationship between our CD patients with @PHENOTYPICFEATURE$ and @DISEASE$ deficiency.	false
+b5fa9aa6ec89b7f3e21639a2d8859efaae6619c5	This process-oriented paper describes the application of an implementation science framework and coding system to the adaptation of the Family Check-Up (@DISEASE$), for a new clinical target and service delivery system-prevention of @PHENOTYPICFEATURE$ and excess weight game in primary care.	false
+1989cc5e67c80cd89941864b96ed064326c791b7	We explored family processes in adolescence that may influence the likelihood of @PHENOTYPICFEATURE$ in early adulthood using a randomized trial of a family-based intervention (the Family Check-Up, or @DISEASE$).	false
+1d5fd14b143dc6d28555009b3ea4685f80f65b94	We present a case of @DISEASE$ (UC) in a patient during the first severe relapse with colonic dilatation and coexisting of giant @PHENOTYPICFEATURE$.	false
+63048c56e87f307d5f3031af8e222d503b270ba0	In addition, the possible pathogenesis of colonic @PHENOTYPICFEATURE$ is reviewed and related to our patient with @DISEASE$.	false
+c389b5681d869acf0a7b52f552519d38370e3daf	Mucosal schwann cell @PHENOTYPICFEATURE$ in @DISEASE$: diagnosis and clinical relevance.	false
+ee17d032a8672b54288e71ccd27cd795b1edce5d	The estimated IRs in the AS03-adjuvanted vaccine group were greater than the literature reported rates for: facial paresis/VIIth nerve @PHENOTYPICFEATURE$, celiac disease, thrombocytopenia and @DISEASE$.	false
+6ec03cd02630129ec9a615db02450d4e85dd8b97	After 2 weeks' treatment with sulfasalazine (SASP) and mesalazine enema, a 32-year-old female with recently diagnosed @DISEASE$ developed bilateral @PHENOTYPICFEATURE$ with peripheral eosinophilia.	false
+b2def28b264d34effda146ba4cd46327049feef5	We report an unusual case of giant colonic @PHENOTYPICFEATURE$ in a 50-yr-old man with @DISEASE$.	false
+84b0b802ef507bc99da234c968be4fdaefb8ce70	Giant @PHENOTYPICFEATURE$ of the ascending colon in an adult with @DISEASE$.	false
+0f25d6d1a88d230bb51d00650b587f4d29e50958	[Acute @PHENOTYPICFEATURE$ as a rare complication of protein deficiency after proctocolectomy for @DISEASE$].	false
+7eabd92ea2d2c5ad5d65afeecb3b0b6a2083d7db	Great achievements were commemorated, including Morio Kasai's operation for @PHENOTYPICFEATURE$, Judah Folkman's discoveries, and Lester Martin's quest for a suitable operation for teenagers with @DISEASE$.	false
+5a61c5fa062476fa891e3c6a4eb81f4bf4b66f64	Patient 2: A 41year-old woman (diagnosed with @DISEASE$ and primary sclerosing cholangitis at age 35) developed @PHENOTYPICFEATURE$ and ptosis.	false
+3c569333731a9cdaa2b7b17a9a6ffe6c6cd32b96	In both diseases there is dermal and fascial mucin and dermal @PHENOTYPICFEATURE$, but this was more common in @DISEASE$.	false
+b74f5add6b29bf28393cc061bfa95d50f609fdb8	We report a family with @DISEASE$, ataxia and @PHENOTYPICFEATURE$ but without cognitive impairment or overt renal disease.	false
+6557eb659067b7d793b4f477c337d47597b39c82	The children presented with primary and severe developmental delay associated with @DISEASE$, spastic tetraplegia, trunk and neck hypotonia, blindness, hearing loss, and @PHENOTYPICFEATURE$.	false
+ab41c9eaf5d2b939b674b5bfda4e92a8e33163db	In the 283 case patients and controls with disabling myalgias, 4 differentiating variables identified patients with @DISEASE$: extremity @PHENOTYPICFEATURE$, leukocyte count > 12.5 x 10(9)/l, dyspnea, and absence of arthralgias.	false
+f755b836df849bd85337a1dfa8623e3510774f49	Even if the clinical picture is mainly dominated by the diffuse @PHENOTYPICFEATURE$, some patients can also show atypical clinical features such as @DISEASE$ ("SMA plus"), which may be related to other genes.	false
+613dc865b7d6ec0c8036569bc4bbe732bed7f8df	We describe a male infant with @DISEASE$ (EME) associated with the congenital nephrotic syndrome, @PHENOTYPICFEATURE$, multiple minor anomalies, and cerebellar hypoplasia.	false
+88ae6618516ab85c7f552864d9cc6afa703dcaf1	The aim of the study was to evaluate efficacy of @DISEASE$ and its impact on evening @PHENOTYPICFEATURE$, venous pain, venous outflow and patients quality of life.	false
+837b9f4e2dc566d1ee88ba0a14cb0659c46b2ca7	On multivariate analysis presence of quadriparesis, @PHENOTYPICFEATURE$, mental retardation and @DISEASE$ were found to predict the poor response to AED.	false
+9b79d2db801cf8829685dcf3cb7fa39df662b606	Electromyostimulation (@DISEASE$) holds the promise of ameliorating SCI-related @PHENOTYPICFEATURE$ and, therefore, improving general health.	false
+0e24ca8b6105cf78848511fa84454f604319ffad	The introduced scheme of @DISEASE$ application was shown to be useful for treatment of chronic @PHENOTYPICFEATURE$, for reducing pain and improving quality of life.	false
+494965e143cba78f484074e0c6487a26e6d41272	@DISEASE$ presenting as spinal @PHENOTYPICFEATURE$.	false
+12648430142bcaacdab8899aa9cb4c549a2d0cb4	@DISEASE$ manifesting as an epibulbar ocular @PHENOTYPICFEATURE$.	false
+043cd5120b3c8707700d2d86e4a17faf963c3a2b	@DISEASE$: @PHENOTYPICFEATURE$ biology, clinical features, pathology, and treatment.	false
+1da4f0b447c7ad97197098beb68579640b576596	@DISEASE$ presenting as a kidney @PHENOTYPICFEATURE$.	false
+b15becae684754354f07275581c89536cf6e1ab4	@DISEASE$ of the trachea: an extremely rare benign @PHENOTYPICFEATURE$.	false
+9a950a0c86f7c52c29800b720fcad0f0b6d80bcb	@DISEASE$ presenting as a pituitary @PHENOTYPICFEATURE$.	false
+6a1493c96e3d7f1c079ffcad041520e19a27e79a	Surgical resection of 3 @PHENOTYPICFEATURE$ was done and sent for histopathology, which was suggestive of sinus histiocytosis with massive lymphadenopathy (@DISEASE$).	false
+9aa698ca7e076d93a514a88e2d29a3f85ae50d2f	Surgical resection of 3 @PHENOTYPICFEATURE$ was done and sent for histopathology, which was suggestive of @DISEASE$ (Rosai-Dorfman disease).	false
+28ef6122b3e445eb5fe1059a3deb6cab081655bd	No relationship could be revealed between this @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4d2a0014c21ea5ef608753fa43d79916d81ad0ce	[@DISEASE$ revealed by @PHENOTYPICFEATURE$: case report].	false
+a5bcb47f12dd767420eccac1e345ff16394603d5	[@DISEASE$ with spinal and cranial @PHENOTYPICFEATURE$.	false
+932c23d26c170219bbf69e12e1212534c75115fd	This report describes a case of stable mixed connective tissue disease (@DISEASE$) with development of acute scleroderma with hypertension, oliguric @PHENOTYPICFEATURE$, microangiopathic hemolytic anemia, and pulmonary infiltrates.	false
+a036c15a2f5cfc7bacfff6d00f8f6880997aaf81	She was therefore re-diagnosed as microscopic polyarteritis nodosa (microscopic PAN) combined with @DISEASE$ and treatment with high dose prednisolone and steroid pulse therapy dramatically improved general conditions and lung symptoms, but maintenance dialysis was persistent because of irreversible @PHENOTYPICFEATURE$.	false
+a7f758e44d31b1681ebd860ae46385c2d47f891d	The treatment of MCTD may not alter the course of renal disease, and @PHENOTYPICFEATURE$ may ensue in patients with @DISEASE$.	false
+7a6b0a9cc5ee169bd911653c0dc2cb5d7467507e	A 79-year-old woman, who had been treated because of mixed connective tissue disease (@DISEASE$), was admitted to the hospital for the intensive examination of a hepatic @PHENOTYPICFEATURE$ that was unexpectedly found on computed tomography.	false
+9159ea8f3a985cff8b9031d41cf23d66dfec38ec	Here we report a patient with @DISEASE$/myositis overlap syndrome displaying an uncommon clinical presentation and a distribution of @PHENOTYPICFEATURE$ involving facial, neck and arm muscles with sparing of lower limbs.	false
+ad1c3961838de6f3fd604b3fcffdf10cba759775	A lingual schwannoma with loss of lingual sensitivity and slightly increased size in an 18-year-old patient with @DISEASE$ was correctly diagnosed through a biopsy and no reoccurrence was observed one year after the surgical removal of the @PHENOTYPICFEATURE$ and sensitivity returned 3 months after surgery.	false
+8d74f96bcac7d9df24498545dd95340eb72c696a	Outcome of mixed @DISEASE$ @PHENOTYPICFEATURE$ matched that of both intermediate TTPmin (>12.5 min and ?25 min) and IDH-mutant, grade III gliomas.	false
+ff974de1bdc179826bc9b64f78fb47312c47b839	Spectrally resolved imaging of 10 mice clearly distinguished A431, NIH3T3/HER2(+), and SP2-@DISEASE$ @PHENOTYPICFEATURE$ based on their distinct optical spectra.	false
+32b488ff2b2a4a93414f9f7aa50761ca5394c877	Outcome of homogeneous increasing (homogeneous decreasing) @DISEASE$ tumors was nearly identical, with both TTPmin > 25 min (TTPmin ? 12.5 min) @PHENOTYPICFEATURE$ and IDH-mutant grade II (IDH-wildtype) gliomas.	false
+1e0fb464e3b8609785c32c9a0b7ca203cfdbb557	Outcome of homogeneous increasing (homogeneous decreasing) @DISEASE$ @PHENOTYPICFEATURE$ was nearly identical, with both TTPmin > 25 min (TTPmin ? 12.5 min) tumors and IDH-mutant grade II (IDH-wildtype) gliomas.	false
+f241afe198c53ab3aa8ba0efe7b0223cfeca6a7d	Two models of sIL-2Ralpha were used: one consisted of mice given intravenous sIL-2Ralpha and the other consisted of mice bearing SP2/@DISEASE$ @PHENOTYPICFEATURE$ xenografts (IL-2Ralpha positive), which shed sIL-2Ralpha.	false
+db2751df0ba2d3c8d276cacc11543526116b11c1	The local @PHENOTYPICFEATURE$ recurrence rate in HCC patients treated with @DISEASE$ plus PEI was lower than that of monotherapy (RR = 0.53, 95% CI: 0.29-0.96;	false
+da0bc9725c0c2bf605914ee7f0f3f9e8e7029b7c	Several studies have reported that TACE inhibits tumor angiogenesis and induces tumor cell apoptosis, while other studies have found that @DISEASE$ stimulates @PHENOTYPICFEATURE$ angiogenesis and thus increases the proliferative activity of the tumor cells to some degree.	false
+6aa4f6c1d657cbddb45abc2463beb5e6efe0cafd	Several studies have reported that TACE inhibits tumor angiogenesis and induces @PHENOTYPICFEATURE$ cell apoptosis, while other studies have found that @DISEASE$ stimulates tumor angiogenesis and thus increases the proliferative activity of the tumor cells to some degree.	false
+6fd0d1b1b7dc9663c4ec3dc727f423e378d34e51	Several studies have reported that TACE inhibits @PHENOTYPICFEATURE$ angiogenesis and induces tumor cell apoptosis, while other studies have found that @DISEASE$ stimulates tumor angiogenesis and thus increases the proliferative activity of the tumor cells to some degree.	false
+04b55382de07bd6ccd306698c2f4acfeaaab2f78	Several studies have reported that TACE inhibits tumor angiogenesis and induces tumor cell apoptosis, while other studies have found that @DISEASE$ stimulates tumor angiogenesis and thus increases the proliferative activity of the @PHENOTYPICFEATURE$ cells to some degree.	false
+5f17847505117c5037d1f376913922a9513513b4	Mixed @DISEASE$ @PHENOTYPICFEATURE$ exhibited both increasing and decreasing TACs.	false
+39ae071ea7e310a90e16ec3b23e9b8a8f2792654	Twenty-five TAE patients were matched in a 1:2 ratio with @DISEASE$ patients by the initial radiographic @PHENOTYPICFEATURE$ size and number in a retrospective, case-controlled study.	false
+1eeb282fbb0bd80e86dd2baea6c6b6b10f56272e	Vomerine @PHENOTYPICFEATURE$ in a @DISEASE$ child.	false
+0c7b1737d08cd1209ff08501b3f5ca58237c55f4	Two sibs with @DISEASE$, @PHENOTYPICFEATURE$, alveolar synechiae, and ectodermal defects: a new recessive syndrome?	false
+1ba8128c503bf371c48fcfa95a74d2a2d603099c	Children with @DISEASE$ frequently show @PHENOTYPICFEATURE$ known as compensatory articulation.	false
+fa578e4bd15571b5971b6ea9a9319d6ac6fe5a8b	Signs of @DISEASE$ speech and the degree of @PHENOTYPICFEATURE$ were recorded.	false
+5300d5a6a394af2a5319e26b81b1b2dadb80f145	We present the case of an infant with @PHENOTYPICFEATURE$, @DISEASE$, scalp dermatitis, and ectrodactyly.	false
+de8d24bbdf0d262ed2ae1a22f895dc4fb2a2491d	Early intervention for @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+bae3d88ec3d6abf76170a70e8e732d60c5af376b	These chondrodysplasias are typically characterized by @PHENOTYPICFEATURE$, eye abnormalities, @DISEASE$, and hearing loss.	false
+5fb3da35df340352e1299c0f6198fe4df8d24b4b	Juberg-Hayward syndrome: report of a case with @DISEASE$, distally placed thumbs and @PHENOTYPICFEATURE$.	false
+328158983352606ccf05a6c97fd79d6c04c187e0	The milder chondrodysplasias are characterised by @PHENOTYPICFEATURE$, eye abnormalities, @DISEASE$ and hearing loss.	false
+90877a209092bc4beb21fc06f68f068e8c199a98	@DISEASE$ associated with @PHENOTYPICFEATURE$ bifid tongue.	false
+ce55fd78b890302a415d9636fe5ccdb252a0bef4	Lafora body-like inclusions in a case of progressive @PHENOTYPICFEATURE$ ataxia associated with @DISEASE$.	false
+6a2e594d1957936f229cb784ae41e058aaa48636	@DISEASE$ should be considered in the differential diagnosis of @PHENOTYPICFEATURE$ ataxia at any age, even in the absence of clinical evidence of gluten-sensitive enteropathy.	false
+5470138f3da59d24a9536e2241d0291ef5c43483	@DISEASE$ is known to favor the development of @PHENOTYPICFEATURE$.	false
+df974efbdb855856afb0ae5d7983e45f50994edc	Epilepsies with cerebral calcifications, with or without @DISEASE$ (CD), are rare neurological disorders characterized by childhood-onset @PHENOTYPICFEATURE$, often refractory to antiepileptic drugs.	false
+18a2f6945f57d43ec53156a87deeba139843262a	Patients with @DISEASE$ can present cerebellar ataxia, progressive @PHENOTYPICFEATURE$ ataxia, myelopathy, or cerebral, brainstem and peripheral nerve involvement.	false
+16e1f690cf924be8d7bf2b6370368dcea558a59e	[@DISEASE$ and risk of colorectal @PHENOTYPICFEATURE$].	false
+a1c7deab8d7be6e1b53bf236a001342efdad74d2	@DISEASE$ should be considered in the differential diagnosis of all patients presenting with a progressive @PHENOTYPICFEATURE$ ataxic syndrome.	false
+fa654a82f7c5508e922a50519383052b008ed65e	Progressive @PHENOTYPICFEATURE$ ataxia associated with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+abc7e8797fa8f7a49ed6ad00cd0f43b7e2a3164b	@PHENOTYPICFEATURE$ in @DISEASE$ are generally mild and improve after a gluten-free diet.	false
+035078ba17452956832a1c3c4c1431870f30ac31	Desferrioxamine, at micromolar concentrations, induced severe cytotoxicity in all @PHENOTYPICFEATURE$ cell lines grown in @DISEASE$ medium.	false
+cfb5fb138ab2b6e5b3ce35274b2fb02dcab35292	Patient, @PHENOTYPICFEATURE$, and @DISEASE$ characteristics were analyzed.	false
+88b2add2aced561e2b3d474a41efe5a74fb59cec	Curcumin can obviously inhibit the proliferation of BAECs induced by fetal bovine serum (@DISEASE$) and @PHENOTYPICFEATURE$ conditioned medium.	false
+86dff0f6856a2bb3bd11718e5811b01f2673e904	The anti-FBS activity required that serum samples be absorbed in excess @DISEASE$ to detect specific antibodies to @PHENOTYPICFEATURE$ cell lysate.	false
+7bd608781a2cfd5a7bd1209e027a7902f94ccb5e	In addition, CSC but not their paired @DISEASE$ @PHENOTYPICFEATURE$ lines inhibited T-cell proliferation of healthy donors.	false
+3cd7f9311a13e54fabd19ca189a40ec6013ac8c3	The cell viability and proliferation of these @PHENOTYPICFEATURE$ and hybridoma cells are equivalent or superior to that in @DISEASE$ medium.	false
+529d5448f00cf82c2302ade35adab0b0e1980dc4	The antibody against @DISEASE$ was incidentally produced by immunization with weakly immunogenic @PHENOTYPICFEATURE$ cells treated with MMC in FBS-supplemented medium.	false
+476f61fabe362a8bee020f6805bfdadbed23a59f	The patient had a postoperative complication of first-bite syndrome (@DISEASE$).Although rare, CSCS should be considered in the differential diagnosis for @PHENOTYPICFEATURE$ at the carotid bifurcation.	false
+78becd34db66b6eb8fbd996501899f8bcb7d7a79	We hypothesized that certain clinical and @PHENOTYPICFEATURE$ variables independently predict the development of @DISEASE$.	false
+9b84026b20700637aa7505d6f6eda6f2366287f1	Curcumin can also obviously inhibit the migration of BAECs induced by @DISEASE$ and @PHENOTYPICFEATURE$ conditioned medium.	false
+41fc609dcc9c6bfffba042ff807af89dfdcc5871	Individuals with @DISEASE$ are characterized by @PHENOTYPICFEATURE$, doll facies, high-pitched voices, and central obesity.	false
+125875bd503277ce933b469380afc60e6722501d	The most striking physical findings of these @DISEASE$ individuals are the @PHENOTYPICFEATURE$, doll facies, high-pitched voice and visceral obesity with reduced fat-free mass.	false
+bce220ab019e8f0f7f9320368472bbc4bc60a9b6	Overall, the present study shows that the lack of LDLr increases the susceptibility to A?-induced neurotoxicity in mice providing new evidence about the crosslink between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+00a143e2ac1a9b1b730e9ac401c6c4cb3554d828	Mutational analysis was performed in patients with @DISEASE$, and brain imaging was obtained in those with familial hypercholesterolemia and mild @PHENOTYPICFEATURE$.	false
+8b080a7a8c567f2c2d0a3193cd854cb94270aef0	Mutational analysis was performed in patients with familial hypercholesterolemia, and brain imaging was obtained in those with @DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+c231c0ed903bfba92284cce73da6619f8e880b64	This study describes 102 members of a family (5 generations), of whom 42 were found to have Meyer-Schwickerath @DISEASE$ with @PHENOTYPICFEATURE$.	false
+917446b0ea75c5d410a27116eb1b5e817d54c4c9	@DISEASE$ (FS) is an autosomal dominant disorder characterized by microcephaly, short stature, @PHENOTYPICFEATURE$, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities.	false
+185bb2cc5a09d8873ce9edbc52ab4300ec1dd6ce	@PHENOTYPICFEATURE$, microcephaly, and normal intelligence: new syndrome or @DISEASE$?	false
+77e884529becc535c65b62c48bf3534f421836fb	In this prospective, nonrandomized, comparative study, 87 consecutive patients with @PHENOTYPICFEATURE$ were assigned to receive either LASIK surgery with an @DISEASE$ (n = 44) or MK-assisted LASIK surgery (n = 43).	false
+0be2360f9b9e65af73e1f5d5ab8f5fb6f9047c27	@DISEASE$ is an important genetic cause of syndromic EA-TEF to consider in patients with associated microcephaly and @PHENOTYPICFEATURE$.	false
+8b3119939d6a91ff5bd5ec056875681078fba22d	@DISEASE$ (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and @PHENOTYPICFEATURE$.	false
+843aa8bb95b434b7c9973b9c80e473b6d1283577	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, @DISEASE$ and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, @PHENOTYPICFEATURE$/loss, obesity, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+71e9287cd4b13cf4007b4ed8e040d0511f1e611c	Defects of the primary cilium and its anchoring structure, the basal body, cause a number of human genetic disorders, collectively termed ciliopathies: primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstr?m syndrome, @DISEASE$ and some forms of retinal degeneration.Alstr?m syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, @PHENOTYPICFEATURE$, diabetes, hepatic and renal dysfunction.Because adult growth hormone deficiency and Alstr?m Syndrome share some clinical and metabolic features, we studied the GH-IGF1 axis, using MRI techniques and dynamic tests in 3 unrelated patients with Alstr?m syndrome.	false
+04a392fb0a58d024b60c00b3386886a5240b696f	Abnormal ciliogenesis and cilia length are suggested to be associated with hypertension and @PHENOTYPICFEATURE$ as well as diseases such as @DISEASE$.	false
+0f5c4dfe7fe97ecdefa6e858d51fb7f378646795	The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, @PHENOTYPICFEATURE$, abnormalities of the respiratory organs, and (different from the @DISEASE$) normal kidneys.	false
+2fd5329df052546098824d3504661100e8716d11	Sudden @PHENOTYPICFEATURE$ and @DISEASE$.	false
+80a845e8ba599653f26dc6549afd78477e15bc58	We report a case of intraspinal @DISEASE$ accompanied by @PHENOTYPICFEATURE$.	false
+04da6eef317abd5e3f8c08117dd1f18b8ba5a8de	Hearing abnormality was the most common presenting complaint in patients with CP angle @DISEASE$'s followed by headache and @PHENOTYPICFEATURE$.	false
+d7a49c5302a3b1cb918b161bfb3bda9a286d6bcd	Pharyngeal cervical @DISEASE$: @PHENOTYPICFEATURE$ and dysphagia.	false
+111235b6c5940043a45001eb23c9b87614e038e0	[@DISEASE$ with sudden-onset @PHENOTYPICFEATURE$].	false
+f0a6d3d8487da72167aeb97d6e4412d5a329b83a	Lumbar @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+14ceeb1162674d5dae3f2dbecb04cda8b4d74681	Intracranial @DISEASE$ revealed by isolated @PHENOTYPICFEATURE$.	false
+c6255c28b96478ebd7b2c450b24025fe48cdccd1	Quadriparesis after a shunting procedure in a case of cervical spinal @DISEASE$ associated with @PHENOTYPICFEATURE$: case report.	false
+4d67586a275c8d6d56edf5f3a67c26e8c072b199	Subdural fluid collection and hydrocephalus following cervical @DISEASE$ resection: @PHENOTYPICFEATURE$ resolution after spinal pseudomeningocele repair: case report.	false
+05287a03f8eb74b913ef33031306f1638fc404c5	Subdural fluid collection and @PHENOTYPICFEATURE$ following cervical @DISEASE$ resection: hydrocephalus resolution after spinal pseudomeningocele repair: case report.	false
+04b1dfa59693d1e0374f30765788133179c6d988	Three of the five patients with the major component of the @DISEASE$ within the bone also had @PHENOTYPICFEATURE$.	false
+e2ee54fac264bdf2b41cb98e4e60649f09db6c18	Of 16 family members studied, positive PCA was found in 3 members (2 in the families of patients with @DISEASE$ positive Sheehan's syndrome, and 1 in the family of the patients with PCA positive partial @PHENOTYPICFEATURE$).	false
+b85f8a470e8938ae9ceb4bf1bf5c3abbed405ec1	However, there is less awareness of dementia-related visual processing impairments in Alzheimer's disease, @PHENOTYPICFEATURE$ with Lewy Bodies or rarer dementia syndromes such as @DISEASE$ (PCA), leading to delayed assessment, diagnosis and management.	false
+4096010e6a8fa657355221079da6fb92946951a9	Among the 91 YOD patients, the most frequent causes were Mild Cognitive Impairment (MCI) (18.7%), then Alzheimer's disease (AD), frontotemporal dementia and @DISEASE$ (14.3% each), followed by progressive aphasia (11.0%), dementia with Lewy bodies (DLD) (9.9%), semantic dementia (8.8%), other causes (3.3%), vascular @PHENOTYPICFEATURE$ (2.2%), undetermined dementia (2.2%), AD+cerebrovascular disease (1.1%).	false
+45f914276b1c1046f12ba7a4da74b81685472756	Positive PCSA was found in 4 members (one in each of families of patients with partial @PHENOTYPICFEATURE$ and isolated ACTH deficiency and of two cases of Sheehan's syndrome), and weakly positive PCSA was found in one family member of a patients with @DISEASE$ positive Sheehan's syndrome.(ABSTRACT	false
+4eb20bcbf33aaabcbe17768468ff420e412ed587	@PHENOTYPICFEATURE$ following @DISEASE$--a descriptive clinical case report.	false
+2d0eda647c61007d5f413f5e53f5f11f294a939d	The high probability group included: amnestic Mild Cognitive Impairment (MCI), amnestic and other domains MCI, Dementia of Alzheimer's Type (DAT), @DISEASE$ (PCA), logopenic Primary Progressive Aphasia (PPA), Cerebral Amyloid Angiopathy and mixed @PHENOTYPICFEATURE$.	false
+92d6231c8b8eceb7dbed42cf6734411bf34835f5	The clinico-neuroradiological syndrome @DISEASE$ is the cardinal 'visual @PHENOTYPICFEATURE$' and most common atypical Alzheimer's disease phenotype, offering insights into mechanisms underlying clinical heterogeneity, pathological propagation and basic visual phenomena (e.g.	false
+dee9c50465f47f2fe99ea292bb23b3bdda9d25e8	@DISEASE$ (SEMDJL) is a rare, recessive @PHENOTYPICFEATURE$ previously reported almost exclusively in Afrikaans speaking South Africans.	false
+47b1339f3e26d95846d80cf98dadf1c7bf9e5edc	This is a report on a Brazilian patient with @DISEASE$ (SEMDJL; MIM 271640), a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation.	false
+0e796c449d9d13b57a089f2507ad76b2f7a1ff70	By exome sequencing, we found that B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe @PHENOTYPICFEATURE$, @DISEASE$ (SEMD-JL1).	false
+76072579f9ac5c244a8a0f4413255f1423667ee4	@DISEASE$ (SEMDJL) is an autosomal-recessive @PHENOTYPICFEATURE$.	false
+1d3a31ed010c6db083dd9e700b0af838962561be	Spondyloepimetaphyseal dysplasia with joint laxity (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations.	false
+b67c3bec95a2191d9e4f9913b3956dce75aaa3fc	@DISEASE$ (SEMD-JL) is an autosomal recessive @PHENOTYPICFEATURE$ in which stunted stature, articular hypermobility and spinal malalignment are the major manifestations.	false
+dd39c69dc7dca352c8ec1a39ef8917abe7a44a28	@DISEASE$ (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant @PHENOTYPICFEATURE$ manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity.	false
+9c261095328b6a8f71b61f8ba7afe508bc5e8a73	@DISEASE$ (SEMDJL) is a distinctive form of @PHENOTYPICFEATURE$ characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.	false
+d14b534078fdf934a50b58de841fa16dca606781	This is a report of two North American patients with @DISEASE$, an uncommon autosomal recessive @PHENOTYPICFEATURE$ rarely reported outside of South Africa.	false
+7ec306f3f38d935e4d6a35e150ba089541ca3063	Subsequent progressive myoclonus and @PHENOTYPICFEATURE$ were consistent with an adolescent-onset form of @DISEASE$.	false
+7bf8e07eea1f7ff6203ea9e207e875af265c3406	Some reports showed that in @DISEASE$ patients, transcallosal excitation of one hemisphere by the other was critical for @PHENOTYPICFEATURE$.	false
+b2e33709e374b667a5f89027d2b428cc35337544	These drugs may improve the overall performance of @DISEASE$ patients by decreasing their @PHENOTYPICFEATURE$ and, to a lesser extent, their myoclonic jerks.	false
+9d6606fd6afdcdd68daf29abd39ece98ba10aad0	Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to @DISEASE$ and pure hereditary spastic paraplegia; (2) Muscular/cardiac presentations; (3) Skin symptoms mostly represented by syndromic (neurocutaneous) and non syndromic ichthyosis; (4) Retinal dystrophies with syndromic and non syndromic retinitis pigmentosa, Leber congenital amaurosis, cone rod dystrophy, Stargardt disease; (5) Congenital bone dysplasia and segmental @PHENOTYPICFEATURE$ disorders with congenital lipomatosis; (6) Liver presentations characterized mainly by transient neonatal cholestatic jaundice and non alcoholic liver steatosis with hypertriglyceridemia; and (7) Renal and immune presentations.	false
+bdbcaf63bf42666a4c4aa22a7fbf5573318d42f6	Syndrome of progressive @DISEASE$ and apraxia associated with occult @PHENOTYPICFEATURE$.	false
+d348c4dfd72d3de4bf3cac04509d02e5d4c26634	The latter resolve themselves into what to discuss with the patient; relapses and their prevention, including general advice on such matters as stress, pregnancy, and infection; major problems including bladder and bowel dysfunction, sexual difficulties, @DISEASE$ and incoordination, vision, and intellectual and psychological manifestations, and other problems, such as menstruation, @PHENOTYPICFEATURE$, and pressure sores.	false
+337467e37148481063011fd0201c7bd497dfc63c	In nine patients with MS, seven with unilateral hearing loss and two with bilateral impairment, accompanying symptoms and signs included facial numbness, hemifacial paresis or spasms, ipsilateral limb ataxia, nystagmus, vertigo, @PHENOTYPICFEATURE$, and @DISEASE$ gait.	false
+53045b7bf5324b1dab7f863662b683eac28a6755	Detailed study of the relationship between seizure activity and @PHENOTYPICFEATURE$ in @DISEASE$ is needed.	false
+d275709e6eb00d29e56f7b26d9366d8a741b2363	Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory @PHENOTYPICFEATURE$, white leaf-shaped macules associated with @DISEASE$ and nevus hypopigmentosus.	false
+75af7f59d54d3a7c9a1fe359a2334dc88d6fc22e	Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital @PHENOTYPICFEATURE$, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with @DISEASE$ and nevus hypopigmentosus.	false
+08ae2265e1a2a8ba7bb29ab609ad1d5bc1f78b91	The significance of @PHENOTYPICFEATURE$ findings as manifestations of the gene for @DISEASE$ (TS) in near relatives of TS patients is a difficult problem.	false
+6d3757313a36f4433b22788c7408bc9dca55f893	Tuberous sclerosis (@DISEASE$) is an autosomal dominant inherited disorder with cutaneous lesions of ash leaf hypopigmented macules, shagreen patches, periungual fibromas, facial angiofibromas, forehead fibrous plaques, confetti @PHENOTYPICFEATURE$, and poliosis.	false
+5b15189b640e7488e7e384e37329ca5863cc3501	@DISEASE$ (TSC) is an autosomal dominant inherited disorder with cutaneous lesions of ash leaf hypopigmented macules, shagreen patches, periungual fibromas, facial angiofibromas, forehead fibrous plaques, confetti @PHENOTYPICFEATURE$, and poliosis.	false
+7158d9b84c36d0643bed2927f07164da065d9cc2	@PHENOTYPICFEATURE$ spots, resembling the mountain ash leaf, may represent the earliest sign in @DISEASE$.	false
+6992966fdf0aa5e1a0d3f58a4146fca13c5085cd	There was no history of trauma, other @PHENOTYPICFEATURE$, neurofibromatosis, or @DISEASE$.	false
+2898db189f786dcdb5b949b5efeca4755a930b54	Ash-leaf @PHENOTYPICFEATURE$ are characteristic for @DISEASE$ and more than 5 caf?-au-lait spots suggest neurofibromatosis 1 (von Recklinghausen disease).	false
+30f3d2bf2254837adc9af452936baabec2b6250e	Our objective was to increase present knowledge about this condition by describing this association of lower limb @PHENOTYPICFEATURE$ and @DISEASE$, however, in a male patient.	false
+aa9080eb04734311a97d90d5f79b14af41191829	The late appearance of @PHENOTYPICFEATURE$ maculae in @DISEASE$.	false
+1a5f134828c73d1470e1c98df882acfc1f351094	Disorders of hypopigmentation may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., @PHENOTYPICFEATURE$, piebaldism, @DISEASE$, hypomelanosis of Ito).	false
+2a63b9b8b4cbf4c9ccf141af4ccd7307e1b43e51	Disorders of @PHENOTYPICFEATURE$ may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., albinism, piebaldism, @DISEASE$, hypomelanosis of Ito).	false
+712b7ff3e6a73ce6c3db6b08d8bf762b8fb01c27	The authors report a prospective study on 88 samples of superficial lesions (lymph nodes, @PHENOTYPICFEATURE$, and breast tumors), performed by fine-needle aspiration cytology (FNAC) in 74 patients, allowing (i) morphologic analysis combined with immunophenotyping by flow cytometry (@DISEASE$) and (ii) a cytogenetic study in 33 cases.	false
+e16f61e664b81bef7363653f72d8263ebf510b9e	Differences in clinical features of acute exacerbation between connective tissue disease-associated interstitial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3083e03b2c03d7b9f99e43566a663b010225430b	Participants with pulmonary disorders such as @DISEASE$, interstitial @PHENOTYPICFEATURE$, pneumoconiosis, active radiation pneumonitis, drug-induced pneumonia, and symptomatic brain metastasis will be excluded.	false
+758066f48d53948146890543b4d0f76f5f4fcc3d	A common polymorphism in the MUC5B gene (rs35705950) is associated with susceptibility to @DISEASE$ (IPF) and familial interstitial @PHENOTYPICFEATURE$ (FIP).	false
+034f47e33717c99f9deffd1ba78cd67fdf49346f	Discordance between pre- and postoperative diagnoses was observed among @DISEASE$, non-specific interstitial pneumonia, and chronic hypersensitivity @PHENOTYPICFEATURE$.	false
+81def67181f7ea6eb2ffd31d7e176060ee2894b7	A common polymorphism in the promoter of MUC5B is associated with familial interstitial @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d3bfec38910cb3586f69512302e5e94dfbdcacfd	Pleuroparenchymal fibroelastosis (PPFE) is a rare form of interstitial @PHENOTYPICFEATURE$ and sometimes coexists with a histologic @DISEASE$ (UIP) pattern.	false
+8e000ce56a930713943088b9d3cd8211e8bf0fce	Short telomeres are frequently identified in patients with @DISEASE$ (IPF) and its inherited form, familial interstitial @PHENOTYPICFEATURE$ (FIP).	false
+2698495261dd3372c272fcf17860d17265ae2c95	The diagnoses included @DISEASE$ (5/22 [22.7%]), pleuroparenchymal fibroelastosis (4/22 [18.2%]), chronic hypersensitivity @PHENOTYPICFEATURE$ (4/22 [18.2%]), and others (9/22 [40.9%]).	false
+1427eb8e066a8804cbf8342d82c823dd9056d36b	The purpose of this review is to discuss the epidemiology of common pulmonary diseases, namely @PHENOTYPICFEATURE$, chronic obstructive pulmonary disease, asthma, lung cancer, and @DISEASE$ in older patients.	false
+a1996e7c2bd3da3a1f16ef291baf1e163241ad77	Myofibroblasts and S-100 protein positive cells in @DISEASE$ and rheumatoid arthritis-associated interstitial @PHENOTYPICFEATURE$.	false
+267f43f6266fd5590591b02d712af2c5eea71b9b	Anabolic-androgenic steroids are used in the treatment of numerous medical conditions, including Fanconi's anemia, hypogonadism, @DISEASE$, @PHENOTYPICFEATURE$ and impotence.	false
+84a3e9c1b46e94c834a4d1292f1db60b3de3c3c9	Subjects discussed include multifocal Purkinje cell @PHENOTYPICFEATURE$, benign congenital polycystic tumors of the AV node, several types of @DISEASE$, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the Wolff-Parkinson-White syndrome, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, familial atrial fibrillation, long QT syndrome, and apoptosis of the heart.	false
+9feb43ce4a188073ec86256cdd9fea6492bd7777	Subjects discussed include multifocal Purkinje cell tumors, benign congenital polycystic @PHENOTYPICFEATURE$ of the AV node, several types of @DISEASE$, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the Wolff-Parkinson-White syndrome, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, familial atrial fibrillation, long QT syndrome, and apoptosis of the heart.	false
+55477164a448e295619f3700f07e0dfaa6952bbc	@DISEASE$ (CHB) can occur in association with structural heart disease, such as atrioventricular septal defects, left atrial isomerism, and abnormalities of the great arteries, with @PHENOTYPICFEATURE$, such as mesotheliomas, or as an isolated defect.	false
+9ffeafaa3351685511f48344e6412b442cb26979	The following classification of 24 cases is suggested: at one end of the spectrum are fasciitis with eosinophilia: diffuse fasciitis (@DISEASE$): 10 cases (3 with hematological complications); 2 cases of diffuse fasciitis with @PHENOTYPICFEATURE$; 3 cases of restricted fasciitis.	false
+944a417af55d45085832d8999f04f0988421d160	Incidence, risk factors and estimates of a woman's risk of developing secondary lower limb @PHENOTYPICFEATURE$ and lymphedema-specific supportive care needs in women treated for @DISEASE$.	false
+255ad25cb1078ee9c77507440b22e5c755026310	The subjects included in our study were patients with ovarian or @DISEASE$ who underwent TC therapy and developed @PHENOTYPICFEATURE$.	false
+a6f28d3204f577651aa4549c63ec4586b40bffa8	Search terms included: "tamoxifen and estrogen receptor," "transcription activation," "premenopause," "postmenopause," "vaginal epithelium," "uterus," "endometrial hyperplasia," "polyps," "@DISEASE$," "sonography," "sonohysterography," "hysteroscopy," "myometrium," "myoma," "sarcoma," "endometriosis," "ovarian cysts," "hot flushes," "concentration problems," "@PHENOTYPICFEATURE$," "vaginal dryness," "sexual function," "libido," "dyspareunia," and "quality of life."	false
+1d386f4316199a9800928bcf1969fb962ec2368f	Recently, human NDRG1 was identified as a gene responsible for hereditary motor and sensory neuropathy-Lom (classified as @DISEASE$), which is characterized by early-onset @PHENOTYPICFEATURE$, leading to severe disability in adulthood.	false
+f83862e7be2ad3ecea958c0c47295e17876a5c75	Furthermore, previous studies assumed that @DISEASE$ (HNPCC)-associated MSI-H tumors and sporadic MSI-H @PHENOTYPICFEATURE$ have similar histology.	false
+26644eb09bc2338c332d2f4029c0d64282b6fcd0	Furthermore, previous studies assumed that hereditary nonpolyposis colorectal cancer (@DISEASE$)-associated MSI-H tumors and sporadic MSI-H @PHENOTYPICFEATURE$ have similar histology.	false
+56855e123c5adf0f152c16e8b765984bf10e0117	Furthermore, previous studies assumed that @DISEASE$ (HNPCC)-associated MSI-H @PHENOTYPICFEATURE$ and sporadic MSI-H tumors have similar histology.	false
+78ddbc59164cca7314c860f96de9ba97f69670fd	Furthermore, previous studies assumed that hereditary nonpolyposis colorectal cancer (@DISEASE$)-associated MSI-H @PHENOTYPICFEATURE$ and sporadic MSI-H tumors have similar histology.	false
+7b680228251f0429f01908fdb3b8031829332bfe	Histological changes pertinent to local @PHENOTYPICFEATURE$ progression in hereditary nonpolyposis colorectal cancer (@DISEASE$).	false
+5dcc65efaa708bc08ee4b35cae48629978ad010d	Histological changes pertinent to local @PHENOTYPICFEATURE$ progression in @DISEASE$ (HNPCC).	false
+b9f324f700d74624448954a8ded9c31c1cedc341	Several studies have described molecular differences between microsatellite stable @DISEASE$ (MSS-HNPCC) and microsatellite unstable Lynch syndrome @PHENOTYPICFEATURE$ (MSI-HNPCC).	false
+75d07b64547bdf1f7b31bedb3322e5cb6852e713	Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-@DISEASE$) and microsatellite unstable Lynch syndrome @PHENOTYPICFEATURE$ (MSI-HNPCC).	false
+b1e7ca699d213e5bb2789afc761611a3820e9675	Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-HNPCC) and microsatellite unstable Lynch syndrome @PHENOTYPICFEATURE$ (MSI-@DISEASE$).	false
+3ae7b9798666501826d73fe528ed19fce469d0e7	To clarify the nature of HNPCC @PHENOTYPICFEATURE$, RER and genetic changes were compared between HNPCC and non-@DISEASE$ tumors.	false
+270bf8b9ad791a51acd04a1f0c91d10ed8fc9483	To clarify the nature of HNPCC tumors, RER and genetic changes were compared between HNPCC and non-@DISEASE$ @PHENOTYPICFEATURE$.	false
+15382d2b01f841aee8ec564ad123cc21c2e92766	To clarify the nature of @DISEASE$ @PHENOTYPICFEATURE$, RER and genetic changes were compared between HNPCC and non-HNPCC tumors.	false
+b76d0187b9a87d2fb423a0f8e9aa8c738638a129	To clarify the nature of @DISEASE$ tumors, RER and genetic changes were compared between HNPCC and non-HNPCC @PHENOTYPICFEATURE$.	false
+1ffe56d95bc705c52c95334b678d54200ba42349	Microsatellite instability is frequently seen in @PHENOTYPICFEATURE$ from patients with hereditary nonpolyposis colorectal cancer (@DISEASE$).	false
+1226aeffb7fda47eb3eb78cdc15639c942640ea8	Microsatellite instability is frequently seen in @PHENOTYPICFEATURE$ from patients with @DISEASE$ (HNPCC).	false
+c3faad3db851ed32cbcd16fa9a9ce80efcebb0a3	The molecular pathogenesis of @PHENOTYPICFEATURE$ outside the usual tumor spectrum for @DISEASE$ (HNPCC) is currently controversial.	false
+f2cef25fb842b15ccf8f935c48b8870627885727	The molecular pathogenesis of tumors outside the usual @PHENOTYPICFEATURE$ spectrum for hereditary nonpolyposis colorectal cancer (@DISEASE$) is currently controversial.	false
+a0d855e831512cc3d2c0019a8782e4ee2cdc872c	The molecular pathogenesis of tumors outside the usual @PHENOTYPICFEATURE$ spectrum for @DISEASE$ (HNPCC) is currently controversial.	false
+ba9efa90b13664cdcbd74cfee3c8dca1a1e310b8	The molecular pathogenesis of @PHENOTYPICFEATURE$ outside the usual tumor spectrum for hereditary nonpolyposis colorectal cancer (@DISEASE$) is currently controversial.	false
+c33b6d215cf7113cb68d134abf8499270642360d	Colorectal and ovarian carcinoma belong to the @PHENOTYPICFEATURE$ spectrum of hereditary nonpolyposis colorectal cancer (@DISEASE$).	false
+5829357b17a5a494b10a71eb40dcb69da9bb78c5	Colorectal and ovarian carcinoma belong to the @PHENOTYPICFEATURE$ spectrum of @DISEASE$ (HNPCC).	false
+d0d032b503c08c0bc90eb90b84a5b3f6e631ac16	Multiple @DISEASE$ @PHENOTYPICFEATURE$: ask the family!	false
+0221606937d538ea13bb0cb2c1d6c8f487ee1487	Our studies disclose an increased @DISEASE$-extracolonic @PHENOTYPICFEATURE$ incidence and improved overall survival in MSS-HNPCC families.	false
+809814de3b0424b55a879d39408a6900a1dbdf96	Our studies disclose an increased HNPCC-extracolonic @PHENOTYPICFEATURE$ incidence and improved overall survival in MSS-@DISEASE$ families.	false
+a976906c9db64f74f9595f6185112cdb8272d069	All of the three hereditary @PHENOTYPICFEATURE$ from hereditary nonpolyposis colorectal cancer (@DISEASE$) patients were MSI-H.	false
+d54b546c955b17a822f3d462eb4a763261bb50df	All of the three hereditary @PHENOTYPICFEATURE$ from @DISEASE$ (HNPCC) patients were MSI-H.	false
+ccb601ab72153eafe47e9842027a637a65e035fe	@DISEASE$ with respiratory failure and right ventricular @PHENOTYPICFEATURE$ as presenting features is rare, and NIPPV can be useful in such cases.	false
+7b26f030de6a544a01ee172203a742acfd74509a	The authors present a case of a coincidence of two very rare diseases in a female--@DISEASE$ and @PHENOTYPICFEATURE$; both may be caused by chromosomal and genetic abnormalities.	false
+e9e2b74b1fa5daf9357f0661a71a85e602c6097c	A seventeen-year-old man with @DISEASE$ developed nausea, @PHENOTYPICFEATURE$, and unsteady gait after mild head trauma.	false
+3172ab24dfddd1341cbdd42744a742223c294ef1	A 58-year-old caucasian male with @DISEASE$ presented to the emergency room of another institution with @PHENOTYPICFEATURE$, blood in the stool, and a history of diverticulosis and symptomatic hemorrhoids.	false
+023a56a96225d69c79e5709c993ff6e7f4cc0d3a	An 18-month-old male infant with moderate @DISEASE$ was admitted with fever, @PHENOTYPICFEATURE$, and hypersomnia.	false
+ad6064eafc327b1be1c11b2ceb10683848457000	@DISEASE$ is clinically characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+d49b2c8f0d3930c7168abcbfe7e7f67990228f12	We describe a case of Mevalonate Kinase Deficiency (MKD) also known as @DISEASE$ (HIDS) presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, @PHENOTYPICFEATURE$, aseptic meningitis, and bronchiolitis.	false
+b3915e04b7807d407f4e91beff7582e29059fb8d	@DISEASE$/MVKD is another autoinflammatory diseases characterized with @PHENOTYPICFEATURE$ attacks.	false
+5ee871fbb40cf7b6064b4033226312b9e7df4754	The autoinflammatory hyperimmunoglobulinaemia D and periodic fever syndrome (@DISEASE$) is characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+bb37968b3af86dc53ccc71cf92785bc27e4dfe7c	Hyper IgD and periodic fever syndrome (HIDS; OMIM 260920) is one of the hereditary autoinflammatory syndromes characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.. @DISEASE$ is an autosomal recessive disorder characterized by recurrent fever attacks in early childhood.	false
+b62d9089644b37c4063edfd149c58c73552c3837	Seven @PHENOTYPICFEATURE$ episodes in three @DISEASE$ patients were monitored, with and without administration of etanercept or anakinra.	false
+af77e994783a0f6ccdaab0ec9af25996bcc95c7c	Hyper-IgD and periodic fever syndrome (@DISEASE$) is an autosomal recessively inherited disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+827417a347970d2210b44fdbcfc3b06e74621442	The potential model predictors were: contraceptive prevalence rate (CPR); utilizations of antenatal care (ANC), health institution delivery (@DISEASE$), Caesarian section (CS) and postnatal care (PNC); and prevalence of maternal anemia, thinness (Body Mass Index (BMI < 18.5 kg/m2), @PHENOTYPICFEATURE$ (height less than 145 cms) and HIV.	false
+9ab18646e495958d8a7f4f9005c1139a24d4c344	Her 19-year old brother presented since the age of 1 year with prolonged episodes of @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ at the age of 7 years based on clinical features and homozygosity for p.V377I mutation in MVK.	false
+f6893b682ca1885cb6058ca5b8edcbaf6bf010a6	Classical type hyper-immunoglobulin D (IgD) syndrome (@DISEASE$) is an hereditary auto-inflammatory disorder, characterized by recurrent episodes of @PHENOTYPICFEATURE$, lymphadenopathy, abdominal distress and a high serum concentration of IgD.	false
+b9b89fc6218641df305182d739fc813532b296ab	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+2c7037c807a8df77d880612ab728d3e6ecc3e952	The histologic subtype was idiopathic orbital inflammation in 2 lesions, lymphoma in 2, @DISEASE$ in 1, @PHENOTYPICFEATURE$ in 1 and 1 malignant melanoma.	false
+124973a44e17d4248e81a033bb824a9a80d8a6e7	While association of other ectodermal dysplasia syndromes with tumors such a non-Hodgkin's lymphoma, @PHENOTYPICFEATURE$, keratoakanthoma, @DISEASE$, squamous-cell carcinoma, syringofibroadenomatosis has been reported, association of hypohidrotic ectodermal dysplasia and a tumor has not been reported.	false
+dbd605b860dcc64d48a5f863fa99b9d95e8e975e	The discussion includes advances in the understanding of Merkel cell carcinoma pathogenesis and prognosis; changes in the seventh edition of the American Joint Committee of Cancer staging manual in reference to staging of squamous cell carcinoma and @DISEASE$; newly described or rare histopathologic patterns and entities including squamoid eccrine ductal carcinoma, rippled-pattern adnexal neoplasms, onychomatricoma, spindle cell predominant trichodiscoma/neurofollicular @PHENOTYPICFEATURE$, and myoepithelioma; and microsatellite instability in sebaceous neoplasms of Muir-Torre syndrome and other tumors.	false
+d8f0463fced0099e976c1374ee1e85caf1f6ad02	The discussion includes advances in the understanding of @DISEASE$ pathogenesis and prognosis; changes in the seventh edition of the American Joint Committee of Cancer staging manual in reference to staging of squamous cell carcinoma and Merkel cell carcinoma; newly described or rare histopathologic patterns and entities including squamoid eccrine ductal carcinoma, rippled-pattern adnexal neoplasms, onychomatricoma, spindle cell predominant trichodiscoma/neurofollicular @PHENOTYPICFEATURE$, and myoepithelioma; and microsatellite instability in sebaceous neoplasms of Muir-Torre syndrome and other tumors.	false
+722efda76438b8c3ef9c91534ebd7285b708e6e3	[A case of rubella arthritis with @DISEASE$ with variable common @PHENOTYPICFEATURE$].	false
+6a3beba9a81b1d14928bca5594e718e391f41b11	The classic triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+487c67c6dfcc059f2b1efa92f99e3444ce65e9ac	DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, @PHENOTYPICFEATURE$, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+b848dbc1bee95d45df082abe4259342f91755fd1	@DISEASE$ is characterized by reversible, gluten-induced, architectural @PHENOTYPICFEATURE$ mucosa.	false
+85288577d441b6f7a20d9b15eb03b736d5c5d9cd	@DISEASE$ is defined as that disorder in which there is an @PHENOTYPICFEATURE$ mucosa manifested by contact with the gluten of wheat and certain other cereal grains.	false
+2a8e829cbdf1661a3072581a957597bdecf0bb75	Three of 19 @DISEASE$ patients met criteria for @PHENOTYPICFEATURE$, defined as performance falling ?1.5 SD on at least three tests.	false
+7d8f9aa29272662ee65f915416aa571f4b27c49b	Here we present the analysis of antisense transcription at 17 loci associated to hereditary Alzheimer's disease, @PHENOTYPICFEATURE$, Parkinson's disease, Amyotrophic Lateral Sclerosis, and @DISEASE$.	false
+0e9997eba4b7194a4123a314ef2696f8356e909a	Western Australian populations of patients with sporadic @PHENOTYPICFEATURE$, PSP, Alzheimer's disease (AD), @DISEASE$ (HD) and normal controls were studied.	false
+17878d0adf4a953eeb294dc59a4736c9e9415f61	Causative and risk-associated mutations in Alzheimer's disease, @PHENOTYPICFEATURE$, Amyotrophic Lateral Sclerosis, Parkinson's disease, @DISEASE$ and others have given the field a unique mechanistic insight into protein clearance processes in neurons.	false
+619c308e25099d0c31ff887a1fd780829dcc6e14	Characteristics and occurrence of @PHENOTYPICFEATURE$ in @DISEASE$: possible influence of antipsychotic medication.	false
+2fd0dc29590eed31d26c34440f2afbb3eeb628ec	Expansions of short nucleotide repeats produce several neurological and neuromuscular disorders including @DISEASE$, @PHENOTYPICFEATURE$, and amyotrophic lateral sclerosis.	false
+d57307a26c0463a86e7cc22d7c5388e56bb21457	Enrolling an extended sample of young and elderly controls, as well as patients with Parkinson's and @DISEASE$, we show that modulations of error processing differ between aging, different @PHENOTYPICFEATURE$.	false
+d4b983c0e753073bec8fb4aa13c235e6e9eaec68	The ubiquitin proteasome system (UPS) is impaired in @DISEASE$, a devastating @PHENOTYPICFEATURE$ disorder.	false
+473dcdbfbd7cd375a3b1e7ac0f6537b10becc4b7	Although motor @PHENOTYPICFEATURE$ is a common manifestation of @DISEASE$ (HD), its description remains limited.	false
+4fac87899361876f770b7a54c2eea0caf1e3ccfe	We describe here a previously unknown, dominantly inherited, late-onset @PHENOTYPICFEATURE$, variably presenting with extrapyramidal features similar to those of @DISEASE$ (HD) or parkinsonism.	false
+ae21d633c61fc96dec3e2d2d1200345c2f0c56f0	Some patients with @PHENOTYPICFEATURE$ (e.g., Parkinson's disease, @DISEASE$) have alterations in pain sensation in addition to motor abnormalities.	false
+62758116336082759f3746bcda80514128f63221	The urofacial syndrome, also known as @DISEASE$, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and @PHENOTYPICFEATURE$.	false
+aa7bf3fca4c1f0248519d325ebb2fd660d8c85ab	The @DISEASE$, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and @PHENOTYPICFEATURE$.	false
+8f52f0eb17c9a34426ce3f2fcbc2a4957602b876	The @DISEASE$ is a rare condition that occurs in both genders and characterized by uropathy and @PHENOTYPICFEATURE$.	false
+915f6ac4592b2e0047d3155b9bec9b147368ffe4	The @DISEASE$ (UFS) or Ochoa syndrome has been reported as a rare autosomal recessive disorder comprising a uropathy and @PHENOTYPICFEATURE$.	false
+944c239c8a380d51db776486179e3404c7faac26	The urofacial syndrome (UFS) or @DISEASE$ has been reported as a rare autosomal recessive disorder comprising a uropathy and @PHENOTYPICFEATURE$.	false
+40293b3567aca9e9c9b7a2be4cc64ced6f06482c	The @DISEASE$ is the association of a non-neurogenic neurogenic bladder with @PHENOTYPICFEATURE$ muscle expression.	false
+1f27af36e17e337598b69f23a41095eac99b2293	The Terminology and Guidelines for @PHENOTYPICFEATURE$ and the Asia Pacific Glaucoma Guidelines respectively developed by @DISEASE$ and SEAGIG scored favorably in the domains of scope and purpose and clarity and presentation, but scored unfavorably in the domains of stakeholder involvement, applicability, and editorial independence.	false
+d936d54702b7b4701f39c36ad2ee3b6d05a9baa5	Guidelines published by the European Glaucoma Society (@DISEASE$) clearly defined the combined surgery indications: @PHENOTYPICFEATURE$, in a patient with glaucoma uncontrolled by medical treatment or treated with a burdensome multitherapy.	false
+1fb6db80a0df1795e11a13ff7cb35e76dbc71db5	ACE inhibitors seem, at the moment, contraindicated in pregnancy and in hyperkalaemic syndromes and must be used with caution in patients with @DISEASE$ (mainly associated with renal failure), with severe bilateral @PHENOTYPICFEATURE$ (and with severe artery stenosis of a solitary kidney) and with severe sodium depletion.	false
+ae633613185afe40da4a1763aa11bcdcd88f3c34	Comparing the cases of self-limited fever with other groups of patients with fever of unknown origin, the following differences were apparent: compared with tumoral and @DISEASE$, self-limited @PHENOTYPICFEATURE$ occurred more frequently below age 40, the difference being significant (p less than 0.01).	false
+f56d3533698d09087a404510521b8f86fe9521bd	Humans with germline SHP-2 mutations develop @DISEASE$ or LEOPARD syndrome, which are characterized by cardiovascular, neurological and @PHENOTYPICFEATURE$.	false
+cd445ef512ce344310ac2edac8a0967c91db8341	@DISEASE$ is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+67dc6e4bbaf6ef32606d77fe784f66f7ee023c6f	@DISEASE$ (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, @PHENOTYPICFEATURE$, and congenital heart defects.	false
+e5141ef7163b281919f06fd80648baec8120c16d	In this paper, the authors describe the association of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+1822f6ad748fe0453d623d767d5ded7416576d47	@PHENOTYPICFEATURE$, including spinal deformities, in @DISEASE$ have been described, but no detailed and systematic study of such spinal deformities has been presented in the literature.	false
+f9fafc814d2ff3b18210602da1b433c2e7b9e923	[@PHENOTYPICFEATURE$ associated with @DISEASE$ (author's transl)].	false
+79178513e997cd8ffd32efcc50057c21b71fd6f5	We report a family with @DISEASE$ (NS), giant proximal nerve hypertrophy, and hereditary motor @PHENOTYPICFEATURE$ type 1A (HMSN1A).	false
+1ba97c6e8987cf22ddd90d591787a483c76c618a	@DISEASE$ is a developmental disorder with dysmorphic facies, short stature, cardiac defects, and @PHENOTYPICFEATURE$, which can be caused by missense PTPN11 mutations.	false
+3c6ead36c89e2a20b9b80f0727d0c9f14e4d3f12	While mental retardation is a common feature of @DISEASE$, the diagnosis of @PHENOTYPICFEATURE$ using operational criteria has not been reported.	false
+8fbad6dbe63b2074c9a837ddb945e6c15f54894f	Although the @PHENOTYPICFEATURE$ was not typical as @DISEASE$, we could not make a diagnosis of a benign tumor by image examinations.	false
+ac3c2140f8b59030267b23023100076e7cd9291a	Although the tumor was not typical as @DISEASE$, we could not make a diagnosis of a benign @PHENOTYPICFEATURE$ by image examinations.	false
+370a57f39ef33f41def51c9088e917c1c0ebe9be	Distribution of the estimated worst @PHENOTYPICFEATURE$ grade was significantly different for renal pelvic cancer and @DISEASE$.	false
+5b8d73f1f954f8e7cf6f080de21858686cad3f2e	We classified UUTUCs into three types: renal pelvic, short-length ureteral, and long-length @DISEASE$; the cutoff for categorizing short- versus long-length ureteral cancer was the median @PHENOTYPICFEATURE$ length.	false
+03dbee6d80641fec03bb299fde7cb87ce70991b2	We classified UUTUCs into three types: renal pelvic, short-length ureteral, and long-length ureteral cancer; the cutoff for categorizing short- versus long-length @DISEASE$ was the median @PHENOTYPICFEATURE$ length.	false
+53e4107e85a7ae77553d0ded3ba154b3803713d9	Severity of hydronephrosis correlates with @PHENOTYPICFEATURE$ invasiveness and urinary bladder recurrence of @DISEASE$.	false
+9ebfb596163fdf998cff46118150ec6d9e8f9467	Therefore, this retrospective study examined the therapeutic role of lymphadenectomy for @DISEASE$ according to @PHENOTYPICFEATURE$ location.	false
+48230e2928a9e72e721335779c6865b1736eaf0a	Clinical differentiation between this @PHENOTYPICFEATURE$ and a @DISEASE$ is difficult and often results in unnecessary nephrectomy.	false
+f0eaf4a247675407d8750e5f67f92934ba5c4936	Retroperitoneal textiloma following laparoscopic-assisted nephro-ureterectomy for lower @DISEASE$, masquerading as a metastatic soft-tissue @PHENOTYPICFEATURE$.	false
+475912f24f95354a228292d243f116baf3c054d3	[@DISEASE$ resembling pulmonary edema induced by recombinant human @PHENOTYPICFEATURE$ necrosis factor].	false
+857b6514d37e45534ecd7ed2c84bbd36654f75ac	Prior to the operation, the @PHENOTYPICFEATURE$ lesion was considered as left @DISEASE$ without metastasis (cT4N0M0; stage IV).	false
+f16adc82a2ec6477a40716f030e91337c65461b0	Poorly differentiated @DISEASE$ has a poor prognosis, and @PHENOTYPICFEATURE$ recurrence is frequent even after nephroureterectomy.	false
+3ec3d95b9653e747e8ea701b362e3aedf388f7b7	Left-isomerism (polysplenia) with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a81cb28875ef89ef880d29beff7e4433dde7760d	We describe a case of @DISEASE$, also called broken heart syndrome or stress cardiomyopathy, following ultrasound-guided @PHENOTYPICFEATURE$ aspiration in a patient with severe anxiety in anticipation of the interventional radiology procedure.	false
+bb79c7c5146708ee9de6b88720ee785c19dfe8c3	We describe a case of Takotsubo cardiomyopathy, also called broken heart syndrome or @DISEASE$, following ultrasound-guided @PHENOTYPICFEATURE$ aspiration in a patient with severe anxiety in anticipation of the interventional radiology procedure.	false
+16c3f3643ff7b6cc7ce59c2d4030ad283066c1e1	We describe a case of Takotsubo cardiomyopathy, also called @DISEASE$ or stress cardiomyopathy, following ultrasound-guided @PHENOTYPICFEATURE$ aspiration in a patient with severe anxiety in anticipation of the interventional radiology procedure.	false
+443a23c4c3168bb6e7e555ee892e8f53aa94f4d6	@DISEASE$ following ultrasound-guided @PHENOTYPICFEATURE$ aspiration.	false
+158777dc5691eb946d33898e3eda4c377a982587	After flexible bronchoscopy, she experienced @DISEASE$ diagnosed by left ventriculography and subsequent @PHENOTYPICFEATURE$ diagnosed by electroencephalography.	false
+ed4efa65df3ac7c114ff996910e6f957dd876247	We report the cases of a 6-month-old boy and a 16-month-old girl who, after viral infection, developed multiple infiltrating @PHENOTYPICFEATURE$ on the limbs and face, associated with @DISEASE$.	false
+93cb07886f8315e4e6b74b3ba237c5cee614252e	We want to highlight the importance of suspecting subcutaneous T-cell lymphoma in patients with @DISEASE$ associated with subcutaneous @PHENOTYPICFEATURE$ lesions because this could be life threatening.	false
+a97fcc4962054db5787f4beecebed0513dadc97e	Body weight loss, @PHENOTYPICFEATURE$, hypoproteinemia, hypofibrinogenemia, proteinuria, lack of Auer rods, and 5q-were prognostic factors in TRL/@DISEASE$.	false
+78c9206d388334febed2570dc929b98b63b00708	Myoclonus dystonia syndrome (@DISEASE$) is a young-onset @PHENOTYPICFEATURE$.	false
+b8a0866109a491e9ebc4171f980cb3d064751ba1	Aortic valve replacement was successfully performed in a patient with severe thrombocytopenia associated with @DISEASE$, interstitial pneumonia and @PHENOTYPICFEATURE$.	false
+3f779d938742cc54868d46eb2a7a78f44596d50c	Myoclonus-dystonia syndrome (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$ caused by mutations in the SGCE gene.	false
+ddf521308b8fbac7b6dcb4882136e66adbea0814	Myoclonus-dystonia syndrome (@DISEASE$) is an inherited @PHENOTYPICFEATURE$ with clinical and genetic heterogeneity.	false
+2029995791028cd85d15a4c3878b498a1f982925	Myoclonic dystonia syndrome (@DISEASE$) is a rare inherited @PHENOTYPICFEATURE$ characterized by the coexistence of myoclonic jerks and dystonia.	false
+8a5ca589169ecdf8a7181d05c1c9666faa309c10	To evaluate the use of the NeuroMate stereotactic robot with a novel ultrasound registration system for @PHENOTYPICFEATURE$ surgery (@DISEASE$).	false
+f32b65b07f06778716fae095da1f5f508c671d57	Affected individuals with the hepatocerebral form of @DISEASE$ have early progressive liver failure and @PHENOTYPICFEATURE$, hypoglycemia and increased lactate in body fluids.	false
+dee5f1025c5f2ed960a3785b615e0a2ab5c9a692	Abstract We report the case of a 56-year-old Japanese woman with Beh?et's disease and myelodysplastic syndrome (@DISEASE$), who had a history of episodic high-grade fever, recurrent oral and @PHENOTYPICFEATURE$, and erythema nodosum, during a 13-year period from 1989 to 2002.	false
+db5e5adc5cd03b3ae8342c1ed394a740a0a26454	We report a Japanese boy, who showed overlapping clinical features of @DISEASE$ (lissencephaly and facial dysmorphism) and vertebral defect, anal atresia, cardiac malformation and @PHENOTYPICFEATURE$ (VACTERL) association.	false
+4e9ad35adebf9aca719eedd4f391e9e443c1cead	Scalp dermatitis, distinctive @PHENOTYPICFEATURE$ and atopic disease in the @DISEASE$.	false
+6082045f000e462cdb3504391a2007ee7f2f1996	The three most commonly recognized entities are (1) the @DISEASE$ (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid @PHENOTYPICFEATURE$; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate).	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+29d651540511f43106718fa047116619637b2b7c	Among P4-ATP-ases a special place is occupied by ATP8B1, for which several mutations are known that lead to serious hereditary diseases: two forms of congenital cholestasis (PFIC1 or @DISEASE$ and benign recurrent intrahepatic cholestasis) with extraliver symptoms such as @PHENOTYPICFEATURE$.	false
+0a2b2b216b969884cf6dfcda1bd687c1e71c899b	This report describes a case of development of @DISEASE$, a rare @PHENOTYPICFEATURE$-papulosquamous dermatosis, in a woman aged 60 years during treatment with imiquimod 5% cream for actinic keratosis.	false
+77c230dac99651ebb97fafdea55e48d17983c6e2	Absence of the vagina in the pediatric population most commonly results from congenital abnormalities, such as the Mayer-@DISEASE$ but it may also be seen after treatment for pelvic @PHENOTYPICFEATURE$, such as rhabdomyosarcoma, and in patients who have had previous gender reassignment.	false
+78c9271f9ffc938752c5fff9ff2ab78b335609d2	In patients with @DISEASE$, laparoscopy allows analysis of the origin of a solid pelvic @PHENOTYPICFEATURE$ and its removal.	false
+9b40e51244a0822566ad6b2ea037334fc894b2f9	To report a rare case of a myoma simulating a pelvic @PHENOTYPICFEATURE$ in a patient with Mayer-Rokitanski-K?ster-Hauser (@DISEASE$) syndrome.	false
+9f7a683f9bfbc2dfbe0f3847f329b5f78548e1f7	In a prospective study we evaluated patients with first @PHENOTYPICFEATURE$ (GTCS) (n = 16, age: 31 +/- 11 years, 8 women) and patients with vaso-vagal syncope (@DISEASE$) (n = 17, age: 32 +/- 13 years, 8 women), diagnosed on the basis of past history and clinical presentation who had serum creatine kinase (CK) levels assessed at admission to the emergency room and 24-26 h later.	false
+0fddbc93912b10c024097f38a07b49e95e237b77	Distinguishing epileptic @PHENOTYPICFEATURE$ (GTCS) from either psychogenic nonepileptic seizures (PNES) or vasovagal syncope (@DISEASE$) is important.	false
+b50b3bf1f7bc8e2e232ee9515bd118a455c5463e	Hence, the genes responsible for @DISEASE$ are of great interest due to the potential for providing insights into the mechanisms of lymphatic development, the diagnosis, prevention and treatment of lymphedema, and lymphangiogenesis during @PHENOTYPICFEATURE$ growth.	false
+298f26b4956ce49322ddb202eb6dbd3daa3a0382	This @PHENOTYPICFEATURE$, usually associated with post-mastectomy lymphedema, has not been described in late-onset @DISEASE$.	false
+cae97835aef481ed6f5828924ce442f3fac9c7ca	We finally highlight recent important data contributing to the understanding of the role of pericytes in @PHENOTYPICFEATURE$ angiogenesis, diabetic retinopathy, and @DISEASE$.	false
+0369533b7adc69294903d29b77d7e9918c57eb4d	Carvedilol for the treatment of @DISEASE$ in patients with @PHENOTYPICFEATURE$?	false
+50d8cfd8a212ef0eb0548a95254b0da4b616d1ca	Cigarette smoking, @PHENOTYPICFEATURE$, and @DISEASE$: a prospective population-based study.	false
+9961a2626127daa59e37e2c60d0675783edea71d	@PHENOTYPICFEATURE$ and @DISEASE$: management of common comorbidities.	false
+32efe44e547e7993e5b2651dc7d4f5c58364c131	However, @PHENOTYPICFEATURE$ also potentially promotes @DISEASE$.	false
+c9173332cd95bc1ba0d23fb3f44dcf9575515b30	@DISEASE$ (BPH) is a major cause of abnormal @PHENOTYPICFEATURE$ of the prostate mainly in the elderly.	false
+e8921e41a4db5fde5f44797ce4d726e6de312f06	@DISEASE$ (BPH) is characterized by tissue @PHENOTYPICFEATURE$ and stromal reorganization primarily due to cellular proliferation and fibroblast-to-myofibroblast trans-differentiation.	false
+7cd02c13f81a94f89fd4a316ff9cb56d939dd862	[Relation between @DISEASE$ and @PHENOTYPICFEATURE$ and estrogen].	false
+7873761749370de6f38fc737a46c551a8bc3bdc5	History of weight and @PHENOTYPICFEATURE$ through life and risk of @DISEASE$.	false
+32efe44e547e7993e5b2651dc7d4f5c58364c131	However, @PHENOTYPICFEATURE$ also potentially promotes @DISEASE$.	false
+7c765e0fbb7fcf98095ddfa8970741b7bb0a0ba7	Lower urinary tract symptoms, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1d888dfb3bdc4a64527ea2566c17d1678f29ffee	@DISEASE$, @PHENOTYPICFEATURE$, and fetal growth factors: a hypothesis.	false
+21e3f5113dc51d86740618e06ac7e6715b0c149d	This lesion appears important in the differential diagnosis of extrarenal @DISEASE$, and should be regarded as a dysplastic @PHENOTYPICFEATURE$.	false
+ae8b07bc09df4fc34639e0c5f1c7f2d7c6c9339e	@DISEASE$ screening in diffuse capillary malformation with @PHENOTYPICFEATURE$ and macrocephaly-capillary malformation: A retrospective study.	false
+fe1c5e1c8e348a3f3185bc03ef16a66ab43baa2e	@DISEASE$, @PHENOTYPICFEATURE$, pheochromocytomas and thyroid cancer.	false
+6a6f6fea7b30b9f60d61d7fe8ab00f640c71dcc7	@PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+cfbb4806744a08b1fb2ec8feefbb96a087ece931	Drash syndrome is a complex disorder characterized by abnormal @PHENOTYPICFEATURE$ sexual differentiation with predisposition to developing gonadal neoplasms, and @DISEASE$.	false
+f6cb68f240b5807f7df491d007201a00cc25d84a	@DISEASE$ with renal cell carcinoma @PHENOTYPICFEATURE$ in a 3-year-old child.	false
+c3a344823c3b9c72a0883a7878c10ed8be86a740	Germline mutations in DIS3L2 cause the Perlman syndrome of @PHENOTYPICFEATURE$ and @DISEASE$ susceptibility.	false
+5faabad26266c2b4aba1b2f512a5041ec3f28725	Wiedemann-Beckwith syndrome (WBS) is a genetic disorder with @PHENOTYPICFEATURE$ and predisposition to @DISEASE$.	false
+07b8389a0b84699e8eed9e515ce44b8d5ed58227	@DISEASE$ (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain @PHENOTYPICFEATURE$ disorders.	false
+a8d3f5de1e7cea512ff4773d94bdefcce781a4e3	MR showed typical features of @DISEASE$ including cerebellar and brainstem hyperintensity, periventricular and deep white matter hyperintensity, and @PHENOTYPICFEATURE$.	false
+7ccbc10dd6e67e2bb8d9a78406dfaa0f0934e600	The tests included two diseases associated with death in childhood (Niemann-Pick type A and @DISEASE$), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 @PHENOTYPICFEATURE$).	false
+321f864c58c62a84a02d7b415b7023bfb4884e52	These sites represent the most common variants in @DISEASE$, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and glycogen storage disease type III.	false
+c96c054b708ac2bae831535d9f39bd2b4a877976	The @PHENOTYPICFEATURE$ was resected and showed histopathological features of @DISEASE$.	false
+8f73091140da050b3bee1486a3e010da6fc38a9a	@DISEASE$ with bone marrow infiltration mimicking haematological @PHENOTYPICFEATURE$.	false
+4b979d0860783ef97a761a4388a0f92e84ba0610	A solid @PHENOTYPICFEATURE$ was found, with a positive biopsy for @DISEASE$.	false
+dadac21691f59877dac22107754bf96680968a53	Postnatally @PHENOTYPICFEATURE$ biopsy revealed an @DISEASE$.	false
+3fa4afbe2f57993896fea6b25279e8f8a5b73e95	Alveolar rhabdomyosarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ in adults.	false
+821e53de7d75e9fa09be92fb977161c23d07cdbc	@DISEASE$ (ARMS) is a rare @PHENOTYPICFEATURE$ in adults.	false
+3246d0d654f761629c0df65af9dcba694a8cfe7f	Bovine undifferentiated @DISEASE$ and its differentiation in xenotransplanted @PHENOTYPICFEATURE$.	false
+f27c4a560d2c00828a62704e65504eb4d8d86409	FOXO1a acts as a selective @PHENOTYPICFEATURE$ suppressor in @DISEASE$.	false
+50c73726362e87088deb13a3b225bd1f45022d10	No @PHENOTYPICFEATURE$ displayed areas typical of embryonal or @DISEASE$.	false
+baf7bf949f71806f2c3d59a5aacd60996936d174	@DISEASE$; a distinctive @PHENOTYPICFEATURE$ type.	false
+f27c4a560d2c00828a62704e65504eb4d8d86409	FOXO1a acts as a selective @PHENOTYPICFEATURE$ suppressor in @DISEASE$.	false
+8975c8683dcafc8d8c4b3cafdb95fd013304fc8f	Massive mesenteric @PHENOTYPICFEATURE$ in a patient with type I @DISEASE$.	false
+a39b4c2b8b509749582d6a48cf92ed7d9813f972	Acute attacks of @DISEASE$ are characterized by recurrent localized @PHENOTYPICFEATURE$.	false
+af2bf252dd4bb4c656a2ca2331264632935a8cb7	Acute @PHENOTYPICFEATURE$ blisters in a @DISEASE$ cutaneous attack.	false
+fa0ac77be03dd625789e2b031d775f42188feda0	@DISEASE$ (HAE) is characterized by episodic attacks of @PHENOTYPICFEATURE$.	false
+7e7af0be4dca1668848119e65c1618d2fbe0e342	New treatment options for acute @PHENOTYPICFEATURE$ attacks caused by @DISEASE$.	false
+8a961265fb6e0f57a87bc1eba86c8d0aa30992ac	Furthermore, 3F7 also interfered with BK-driven @PHENOTYPICFEATURE$ in the severe swelling disorder @DISEASE$ (HAE) type III.	false
+e26c03c8691e3e70c013db96687f5a8be22d2385	Furthermore, 3F7 also interfered with BK-driven @PHENOTYPICFEATURE$ in the severe swelling disorder hereditary angioedema (@DISEASE$) type III.	false
+7bb242cb525401300e76948573b331cf768c5a45	Hereditary angioedema (@DISEASE$) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal @PHENOTYPICFEATURE$.	false
+dc1fc52ffa77bfb4d2920895997aec012b7a5260	@DISEASE$ (HAE) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal @PHENOTYPICFEATURE$.	false
+89f7febfcd439b214dc1214e68af160dc64120e6	Upper airway @PHENOTYPICFEATURE$ in 43 patients with @DISEASE$.	false
+86aa53884968b3931b167d9bc9c36f4aad29ee4c	Management of upper airway @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+dd3bc55d30d60bdc0e77cdc88b3bf96e3435f601	The "neurotic @PHENOTYPICFEATURE$" (@DISEASE$).	false
+a3f5a7f1023ff9aaed5db0c5ea51e9a6ce770a8d	@DISEASE$, an inherited primary @PHENOTYPICFEATURE$ characterized by ventricular hypertrophy, is the leading cause of sudden death in the young.	false
+410ab037c0c9fcd0d87d408380eb988037627b67	Mutations within the genes encoding some myosin isoforms have been found to be responsible for blindness (myosins III and VIIA), @PHENOTYPICFEATURE$ (myosins I, IIA, IIIA, VI, VIIA and XV) and @DISEASE$ (beta cardiac myosin heavy chain and both the regulatory and essential light chains).	false
+dc61321e09e13b2a149fdac0519b1ac2de8422ca	They included sensory either visual or auditory disturbances, @PHENOTYPICFEATURE$, isolated psychiatric manifestations, atypical parkinsonian syndromes (@DISEASE$, progressive supranuclear palsy-like), pseudobulbar syndrome, isolated involuntary movements (dystonia, myoclonus, chorea, blepharospasm), acute or subacute onsets mimicking a stroke, isolated aphasia, and neuropathy.	false
+84d3d6df23354198e611f468975af343caf9fc59	Predefined clinical signs (@PHENOTYPICFEATURE$, visual, pyramidal, myoclonus, limb apraxia, limb dystonia, sensory, parkinsonism, and @DISEASE$ [CBS]) and FDG-PET data were assessed in consecutive CJD patients.	false
+81f0305317678d819e102bc44fbb32e977a71022	Clinical symptoms include frontotemporal dementia, @DISEASE$, Richardson syndrome, parkinsonism, pure akinesia with gait freezing and, rarely, motor neuron symptoms or @PHENOTYPICFEATURE$.	false
+3ecb2a9f93ca8a3b0f330bc472975da73fc3dcbe	In addition to typical symptoms, PSP patients can exhibit atypical symptoms including levodopa-responsive parkinsonism, pure akinesia, non-fluent aphasia, @DISEASE$, and predominant @PHENOTYPICFEATURE$.	false
+3a8621a3f0017c9297249405534f711737bb88de	[Study of a case of @DISEASE$ @PHENOTYPICFEATURE$, pseudo-tumoral in form, with hyperalphalipoproteinemia].	false
+886b55169db8c50aa4b03d16ac353c2e5c41caa3	[Anatomo-clinical, histopathological and histochemical study of a case of type II hyperlipoproteinemia (@DISEASE$ @PHENOTYPICFEATURE$)].	false
+d3f1f7872e5fde34128488ecd975a8bcbbc30c6a	Cholestyramine therapy in patients homozygous for familial hypercholesterolemia (@DISEASE$ @PHENOTYPICFEATURE$).	false
+82e4a88e65b45e4994647e1d4b8af09292bdcfb3	Cholestyramine therapy in patients homozygous for @DISEASE$ (familial hypercholesterolemic @PHENOTYPICFEATURE$).	false
+76152a21aa6f7fab98c6ce42bbda730bb5b91f7f	[The circulatory system in patients with @DISEASE$ @PHENOTYPICFEATURE$].	false
+bfe1b0a56776603b4d63686aad5c9ae55de2b395	[Essential @DISEASE$ @PHENOTYPICFEATURE$ and coronary heart disease.	false
+a77a54536dcb1b4329b2124b6a92e8b0c0d7b5a2	[Anatomo-clinical study of an acute thrombosis of the basilar trunk occurring at 44 years of age associated with @DISEASE$ tendinous @PHENOTYPICFEATURE$].	false
+b360952d6f6bcf285f1dbd4e008318da191ff58d	Essential @DISEASE$ and @PHENOTYPICFEATURE$; follow-up study of twelve Danish families.	false
+b517bd5b280b3180ffa82460963a971d19af775e	The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial @DISEASE$, III, and V, cerebrotendinous xanthomatosis, Wolman's disease, Tangier disease, Hand-Sch?ller-Christian disease, and normolipidemic cutaneous @PHENOTYPICFEATURE$, revealed lipid vacuoles, either membrane-bound or with no single unit membrane, cholesterol crystals, multivesicular or multilocular lipid bodies, myelin-like bodies, and ceroid granules (residual bodies).	false
+e1ec2364637f92b2d17f797621a0f70a02917a09	These findings indicate that this video is an effective strategy for increasing @DISEASE$ knowledge among @PHENOTYPICFEATURE$ women.	false
+91a9f30d4747cdb926757d65f540897324cf9915	Poor coverage of @DISEASE$ detection in Latin American women, low income, population @PHENOTYPICFEATURE$, malnutrition and poor sexual education among high risk groups, are the main reasons that threatens survival.	false
+1335c25117f26679a34af78db31b77ad0c116fa8	Radiotherapy as definitive treatment for invasive @DISEASE$ during pregnancy causes @PHENOTYPICFEATURE$ in most cases.	false
+5152403981cbb41b7cdb823c83d7f9213380816c	@PHENOTYPICFEATURE$ was also more common among the women who had @DISEASE$.	false
+ea06828aa0c7ee804f3c35aacf3a196e9e203076	The impact of @DISEASE$ education for @PHENOTYPICFEATURE$ women using a video educational tool employing American sign language, open captioning, and graphics.	false
+021048eaf18f4e7a621a1ee002f2a4cea7f3ca72	Few data are available regarding @DISEASE$ and @PHENOTYPICFEATURE$.	false
+15878b75c2d5ba562e70e22c48e8343541107f3f	@DISEASE$ survivors reported more dyspareunia than healthy controls and @PHENOTYPICFEATURE$ was more frequent and lasted longer after radiotherapy.	false
+ed2f8adb643eab32aaf8516429cc382206e4a6ea	Breast and @DISEASE$ screening specific effects of depression and @PHENOTYPICFEATURE$.	false
+d25d846a094744cb00c2823efa43e1cf5beb7350	The expressed E7 protein resulted in efficacious cytotoxicity and tumor @PHENOTYPICFEATURE$ in TC-1 @DISEASE$ cells.	false
+a69e7eacb5fe7a798aa6a12700cc2813af58eb06	The risk was also significantly higher for extracutaneous tumor development like chronic lymphocytic leukemia, colon and kidney cancer (both genders), non-Hodgkin's lymphoma, @DISEASE$ (females), and @PHENOTYPICFEATURE$ (males).	false
+10fcfc1b19f54c63f91001c3d0b16275a6dd0210	In a patient who developed clinical signs of intracranial hypertension, bilateral papilledema and @PHENOTYPICFEATURE$, in association with mild hypotension, hyponatremia and hyperkalemia, the hypothesis of @DISEASE$ was raised and confirmed.	false
+04102e813676c9e0b1008593ddfa921507dbf7fc	Subsequent @PHENOTYPICFEATURE$, disorientation, and confusion led to the discovery of @DISEASE$, which responded well to corticosteroid replacement therapy.	false
+70b1965034b9c605dade08d23fde19b5855ee42a	Medical history included diabetes mellitus type 2, cerebrovascular accident, depression, hypertension, @PHENOTYPICFEATURE$, atherosclerotic cardiovascular disease, vitamin B12 deficiency, @DISEASE$, as well as a colostomy secondary to diverticulitis.	false
+0455103491a572dd23b7bcf79f2fa14023e56250	Potential mechanisms for the neuropsychiatric symptoms of @DISEASE$ include electrophysiological, electrolyte and @PHENOTYPICFEATURE$, glucocorticoid deficiency, increased endorphins, and an associated Hashimoto encephalopathy.	false
+dc493be84c4169951da037dfdb78cf9e655d1623	APS-II is defined by the development of two or more of the following entities: primary adrenal insufficiency (@DISEASE$), Graves' disease, type 1A diabetes mellitus, autoimmune thyroiditis, @PHENOTYPICFEATURE$, celiac disease, and myasthenia gravis.	false
+c958ca4a687a8e7f4b2739f34b0493dbad548a11	Its measurement is also used in the investigation of adrenal incidentaloma, adrenal carcinoma, @DISEASE$, congenital adrenal hyperplasia, @PHENOTYPICFEATURE$, and renal tubular channelopathies.	false
+77fce8344b59ec88e60e9ef28e5c60a5c725166f	@DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, and pleuropericardial effusions.	false
+837457cda2b513e806486c8e67ac3e271f59248d	An eleven-year-old boy was diagnosed to have @DISEASE$ with an ACTH level of over 4500 pg/ml after a short episode of @PHENOTYPICFEATURE$ and dehydration.	false
+840ca58f74d308b6ca825c6812a02aa61d15e089	Some of these include atherosclerosis, myocardial infarction, stroke, and ischemia/reperfusion injury; chronic and acute inflammatory conditions such as wound healing; central nervous system disorders such as forms of @DISEASE$ (ALS) and glutathione peroxidase-linked adolescent @PHENOTYPICFEATURE$; Parkinson's disease and Alzheimer's dementia; and a variety of other age-related disorders.	false
+32adbf568468e43a45c4fb8b780c5c82bdd91564	In recent years oxidative stress has been implicated in a wide variety of degenerative processes, diseases and syndromes, including the following: mutagenesis, cell transformation and cancer; atherosclerosis, arteriosclerosis, heart attacks, strokes and ischaemia/reperfusion injury; chronic inflammatory diseases, such as rheumatoid arthritis, lupus erythematosus and psoriatic arthritis; acute inflammatory problems, such as wound healing; photo-oxidative stresses to the eye, such as cataract; central-nervous-system disorders, such as certain forms of @DISEASE$, certain glutathione peroxidase-linked adolescent @PHENOTYPICFEATURE$, Parkinson's disease and Alzheimer's dementia; and a wide variety of age-related disorders, perhaps even including factors underlying the aging process itself.	false
+8825dfcd438060c35010f7d1884b9a3202d5026e	Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and @DISEASE$ (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's @PHENOTYPICFEATURE$, and myotonic dystrophy type 1.	false
+a2b373f0dc1c888d68ccbe215a0fa9acf9d476ba	Furthermore, yeast has been utilised to elucidate the role of oxidative stress in ageing, apoptosis, and diseases, such as @DISEASE$ and Friedreich's @PHENOTYPICFEATURE$.	false
+eddd9f5c58c02b2d2a885b52b831551e4675ede7	A significant number of major neurogenetic diseases have been defined at the molecular level in recent years, making it possible to determine precisely the genotype for familial Alzheimer's disease, Huntington's disease, Machado-Joseph disease, dominantly inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth disease, myotonic muscular dystrophy, Duchenne-Becker muscular dystrophy, @DISEASE$, and neurofibromatosis.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+9e648d89da2f5ffcd6ffd8a9cd01ab07b0758b45	Pompe's disease, Friedreich's @PHENOTYPICFEATURE$, and @DISEASE$ were seen in one each.	false
+74b600b7786144e4ee501b57b83c936a96426710	The initial spinal deformity in all children was the result of static @PHENOTYPICFEATURE$ with nine children diagnosed as having spastic cerebral palsy without another specific diagnosis and one child diagnosed as also having @DISEASE$.	false
+54f37df2fdf0f5ab0eef3357dc76b010a63c5b15	Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in @DISEASE$ (triangular facies, downward slanting palpebral fissures, micrognathia, short stature, and learning @PHENOTYPICFEATURE$).	false
+6b7dd83176a9759be53bc3e4aabc22cbf4d8514c	All patients had urinary dysfunction requiring drainage from etiologies that included Eagle-Barrett syndrome (n?=?2), @DISEASE$ (n?=?1), Lennox-Gastaut syndrome (n?=?1), and @PHENOTYPICFEATURE$ (n?=?2).	false
+9851556d1c3a338c7ce5740363555a13000434e6	Central @PHENOTYPICFEATURE$ of the jaw in association with @DISEASE$.	false
+6f5c7e8619ea9b55b572b9ff4962c2bce511b1f5	?@DISEASE$ (MONA) is an infrequently described autosomal recessive @PHENOTYPICFEATURE$ characterized by progressive osteolysis and arthropathy.	false
+0b60841b04c33d7ccd7e68819c53dd9fb6946984	Hereditary retinal diseases (HRDs), including retinitis pigmentosa, Leber's congenital amaurosis, congenital stationary night blindness, @DISEASE$, Stargardt macular dystrophy, etc., are the most common and severe hereditary ocular diseases, which are closely associated with @PHENOTYPICFEATURE$.	false
+a073e48b275088806cf2149f1cbfd345ea01b6d0	Mutations causing autosomal recessive bestrophinopathy are mostly located outside of the exons that usually harbor @DISEASE$-associated dominant @PHENOTYPICFEATURE$.	false
+9973be64e1cfd75e07dc1f794b5f8eccdb65818f	The @DISEASE$ (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and @PHENOTYPICFEATURE$.	false
+ce295506054154772e655b7356d7b0ac0a520192	The acrocallosal syndrome (@DISEASE$) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and @PHENOTYPICFEATURE$.	false
+f78f7eaf202299fc2176061dacbecfeb67737cdb	Chronic thyroiditis was associated in 3 out of 7 patients with isolated ACTH deficiency, and empty sella was found in each one patient with isolated @DISEASE$ deficiency and partial @PHENOTYPICFEATURE$, and in 3 patients with Sheehan's syndrome.	false
+293eca31b14d2a75ca5c51d8c3b87824d87f7b1f	Chronic thyroiditis was associated in 3 out of 7 patients with isolated @DISEASE$ deficiency, and empty sella was found in each one patient with isolated ACTH deficiency and partial @PHENOTYPICFEATURE$, and in 3 patients with Sheehan's syndrome.	false
+504d38fee464fa1e8b50b78d7160ced9a82cbf57	Sertraline alleviated osmophobia caused by partial @PHENOTYPICFEATURE$ with isolated @DISEASE$ deficiency.	false
+50ef258505f0daae1d1a9b7b843465c407620a35	First cousins, related through their mothers, showed a pattern of craniofacial, brain, and @PHENOTYPICFEATURE$ consistent with the @DISEASE$.	false
+874b486aa354767a31998e0e3319ebd72373f153	Endocrine symptoms may include partial or total @PHENOTYPICFEATURE$, with adrenocorticotropic hormone (@DISEASE$) deficiency being the earliest and most frequent alteration.	false
+c92cdd4bf64e17a24916142785c1748dd1677a3f	Brief report: @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1c927f79c067f873d3def23f62a71f9af87d3773	@PHENOTYPICFEATURE$ and aging were associated with decreased use of interventional therapies and guideline-recommended medications in @DISEASE$ patients.	false
+be9ecb4714e138392c32c7ec4effd5c1707d629c	@DISEASE$ in a young @PHENOTYPICFEATURE$ male.	false
+ef5048bfdf0f2791916010a285d130583c9198ba	The authors describe a boy presenting with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a605aec3e8b3fad5ff353136ff6fc0aeaebce4ac	In 16 family members of 5 patients (each 1 with partial @PHENOTYPICFEATURE$ and isolated @DISEASE$ deficiency syndrome, and 3 with Sheehan's syndrome), APA in their sera were investigated.	false
+ad51ee9b6e62a2055616242d39b5d8d999fa4298	@DISEASE$ is a genetic condition characterized by a recognizable facial phenotype in addition to moderate to severe cognitive disability with severe @PHENOTYPICFEATURE$ and variable multiple congenital anomalies.	false
+5a7ba28706364d94a75cdd1b23565c555d518c50	We identified a patient with @DISEASE$ who also developed cholestasis and histopathologic features consistent with @PHENOTYPICFEATURE$, suggesting that mutations involving zfhz1b may lead to biliary developmental anomalies or injury to the biliary tract.	false
+62e1058c15ead8f085dcc92ae202b3016ca877f1	@DISEASE$ is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and skeletal abnormalities (referred to as Albright's hereditary osteodystrophy) that include short stature, @PHENOTYPICFEATURE$, and heterotopic calcifications.	false
+c5fc6824b858c9f8b5dcb6a52eb95cb94543e636	Also present were three CVA patients with LA; one migraine patient with known SLE and LA; and one each with CNS @DISEASE$, Behcet's disease, isolated CNS @PHENOTYPICFEATURE$, and B27+ spondyloarthritis.	false
+263ba7a571adbbc84e627057bc1ad4198f7e38fa	Special emphasis is placed on vitroretinal disorders of general importance, such as diabetic retinopathy, endogenous (fungal) endophthalmitis, @DISEASE$, Crohn disease, sarcoidosis, shaken-baby syndrome, Terson syndrome, metastatic @PHENOTYPICFEATURE$ of the choroid, cellular infiltration of the vitreous due to leukaemia or non-Hodgkin lymphoma, and amyloidosis.	false
+ca1d7c2842a25da9f82c52ca930c929177f9b66d	@DISEASE$ confined to the central nervous system presenting as a solitary frontal @PHENOTYPICFEATURE$.	false
+9d207e2d3c3192059c7873a71c0283e2100bb491	This case is exceptional because it represents an isolated cerebral manifestation of @DISEASE$ that presented as a solitary frontal @PHENOTYPICFEATURE$, thus raising the differential diagnosis of LGG.	false
+0c2f6f3a86d08fd0954b2439702adb47e1c604ca	There were no differences in prognostic impact of presence of @DISEASE$ according to @PHENOTYPICFEATURE$ cell content.	false
+58a0d1cd7b720a49e60fb1ecbeeb0a05c6c93505	Angiomodulin (@DISEASE$/IGFBP-rP1), a glycoprotein of about 30 kDa, is overexpressed in tumor vasculature as well as some human cancer cell lines, but it has been suggested to be a @PHENOTYPICFEATURE$ suppressor.	false
+0ad9f4b571c6ed128739e5d2dea73a1fab81254c	Angiomodulin (@DISEASE$/IGFBP-rP1), a glycoprotein of about 30 kDa, is overexpressed in @PHENOTYPICFEATURE$ vasculature as well as some human cancer cell lines, but it has been suggested to be a tumor suppressor.	false
+773279e4265c2c6a83c762f1034f55ca6e11db68	The expression of angiomodulin (@DISEASE$), a vascular endothelial growth factor (VEGF)-A binding protein, was increased in the vasculature of several human @PHENOTYPICFEATURE$ as compared to normal tissue, raising the hypothesis that AGM may modulate VEGF-A-dependent vascular patterning.	false
+1f3805de7c489517b4211d0dfaeeb764a7bad362	The expression of angiomodulin (AGM), a vascular endothelial growth factor (VEGF)-A binding protein, was increased in the vasculature of several human @PHENOTYPICFEATURE$ as compared to normal tissue, raising the hypothesis that @DISEASE$ may modulate VEGF-A-dependent vascular patterning.	false
+0900514364cd36d8710d94ca7945a2f51430142e	From January 2007 to April 2014, 37?patients (7?female, 30?male; mean age 66.8?years, range 41.5-82.5?years) with @DISEASE$ from different primary @PHENOTYPICFEATURE$ were treated with CT-guided HDR interstitial brachytherapy (iBT).	false
+ad2b14f6e36927800d9245316492cae20f0f14be	Tumor-derived adhesion factor/angiomodulin (@DISEASE$) is accumulated in @PHENOTYPICFEATURE$ blood vessels and on the endothelial cell surface (Akaogi, K., Okabe, Y., Sato, J., Nagashima, Y., Yasumitsu, H., Sugahara, K., and Miyazaki, K. (1996) Proc.	false
+ca9bf140ee1c9e3e663af2ac576201ba90093197	To elucidate roles of angiomodulin (@DISEASE$) in @PHENOTYPICFEATURE$ progression, we here examined distribution of AGM in three types of human cancer tissues by immunohistochemistry.	false
+492487c97fa753a3c78351bf390bf646fb1c98b7	Treatment- and primary @PHENOTYPICFEATURE$-independent features influenced survival of patients with @DISEASE$ after HDR-iBR treatment.	false
+88cb319dff6485eb113f1f40fd5339c27f4107f3	Elevated expression of angiomodulin (@DISEASE$/IGFBP-rP1) in @PHENOTYPICFEATURE$ stroma and its roles in fibroblast activation.	false
+beceb2f354e81480ea793784c797318e28f608c3	Dissecting the @DISEASE$ phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the @PHENOTYPICFEATURE$.	false
+b8f95b9189864c2cc9981aaa851f52859535ea59	@DISEASE$ (WHS), associated with a deletion of chromosome 4p, is characterized by mental and growth retardation and typical @PHENOTYPICFEATURE$.	false
+5ed5af15ba8b19a3b02b7f1ef84552925cbfb1cb	The @DISEASE$ (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, @PHENOTYPICFEATURE$, and midline fusion defects, shows extensive phenotypic variability.	false
+8a5b244a18ade7ccce5ce922b028dd0586f6a041	The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in @DISEASE$ (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical @PHENOTYPICFEATURE$ features.	false
+1b070c10a28a02a08e3a1b37e1bb837039467211	@DISEASE$ (WHS) is a rare developmental disorder associated with hemizygous deletion of short arm of chromosome 4. Main phenotype characteristics of WHS are: intrauterine growth retardation, mental retardation, typical @PHENOTYPICFEATURE$ ("Greek warrior helmet"), microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects).	false
+57e96574ffb73c254e8f40dd0f2564a83baa57cd	These findings, along with our patient suggest that loss-of-function variation in WHSC1 may lead to a mild form of @DISEASE$, and also may suggest that the developmental delays, @PHENOTYPICFEATURE$, and short stature seen in WHS may be due to disruption of WHSC1 gene.	false
+2ff8e2d5cf77e8662e9a397dfec475d5821efa0e	@DISEASE$ is an uncommon chromosomal disorder caused by loss of material from the distal aspect of the short arm of chromosome 4. Its characteristic features include profound growth retardation with psychomotor delay, severe mental deficiency, @PHENOTYPICFEATURE$, midline defects and skeletal anomalies.	false
+72aaeed24f5a8ad94cec74a5c190a4c00dbd440c	We described female newborn baby with 4p deletion, who had most of the phenotype characteristics of @DISEASE$: intrauterine growth retardation, microcephaly, @PHENOTYPICFEATURE$, congenital hypotonia and seizures in neonatal period.	false
+deb62ee509e30ce7c54980000f9b4a6f7d73839f	@DISEASE$ (WHS) is associated with @PHENOTYPICFEATURE$ including high forehead, high nasal bridge, hypertelorism and severe mental retardation.	false
+1a9bf36355e2cd22686c4fe33da776fe21387fbc	Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: @DISEASE$ (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and @PHENOTYPICFEATURE$.	false
+e7d23d133ab0b5d021a9ae62c5d0a4c4aaa9f63b	Environmental factors are thought to contribute to the risk of developing @DISEASE$ by interacting with a number of genes in different ways, thus suggesting causal @PHENOTYPICFEATURE$.	false
+ddc456a0a7bc29b263d3f04e5282a9d7ccaab073	In this review, we begin with a clinical overview of @DISEASE$, highlighting the @PHENOTYPICFEATURE$ of the disorder.	false
+b821594e3b6a35e1991aa24fc56f151aae75a808	Although there are several studies so far showing altered microbiota (dysbiosis) in @DISEASE$, the results are @PHENOTYPICFEATURE$ and often contradictory.	false
+1297ff934c27826678843f81c8f1e3e451c1f049	There are a well-known number of comorbidities associated with autism spectrum disorders (@DISEASE$), including, commonly, gastrointestinal (GI) pathology, which can include variable combinations of constipation, diarrhea, abdominal pain, gastroesophageal reflux, and @PHENOTYPICFEATURE$.	false
+50b96a01301899d1bb8bb43c0c8464da4bf55b6f	There are a well-known number of comorbidities associated with autism spectrum disorders (@DISEASE$), including, commonly, gastrointestinal (GI) pathology, which can include variable combinations of constipation, diarrhea, @PHENOTYPICFEATURE$, gastroesophageal reflux, and vomiting.	false
+a4b3eaa750206bf538bcaf92237e1de9b3ecc534	These findings indicate that ToM is a persistent @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a64b63617bce7f357fda65759400e6998c1287ac	Radiographic assessments included: C2-C7 lordosis, T1 angle, levels fused, sagittal vertical axis (SVA), fusion mass @PHENOTYPICFEATURE$, proximal and distal adjacent segment lordosis, @DISEASE$, and presence of fusion.	false
+a9078249be95e0f31a186a6703cf4d95abbd4cad	The most compact cluster is clinically characterized by severe @DISEASE$, significant @PHENOTYPICFEATURE$ and language regression.	false
+57adf20b6dc3baf399aa0ef11bc151c42f65ea5d	In relative terms, @PHENOTYPICFEATURE$ appear somewhat more severe in individuals with @DISEASE$ and above average IQs compared to the below average IQ patients with ASD.	false
+ff5217e298bbbeae0d56c7a8ffd588d0b8c7af81	In relative terms, @PHENOTYPICFEATURE$ appear somewhat more severe in individuals with ASD and above average IQs compared to the below average IQ patients with @DISEASE$.	false
+4bcc5ca7b778c1f29ba6cde9417bee3c04e196ac	Resiliency in @DISEASE$ is much less studied but examples can be gleaned by exploring studies that allow for @PHENOTYPICFEATURE$ in causation and outcome.	false
+d3267cf95b40b7f139217e31fa8eb348e2010627	One brother has @PHENOTYPICFEATURE$; the other had a pulmonary artery atresia, VSD, @DISEASE$, and an over-riding aorta.	false
+86527536ee200d9f6b104a294cbc1faf3d338b40	All patients diagnosed with @PHENOTYPICFEATURE$ or @DISEASE$ at public and private in- and out-hospital departments in Denmark were included.	false
+25e7d5ee71150d61d4496ac35a5a69e6d0cf0e7a	@PHENOTYPICFEATURE$ and @DISEASE$ increasingly are common health issues, with symptoms that can include snoring, daytime somnolence, difficulty concentrating, fatigue, witnessed apneas, and morning headaches.	false
+cd735312bee73be602d440c4e0085a650999e77f	Obesity is associated with 2 closely related respiratory diseases: @DISEASE$ (OHS) and @PHENOTYPICFEATURE$-hypopnea syndrome (OSAHS).	false
+83fbd70dc3e91c2d19b0990be85e7f7e688eeabf	[The difference and similarity of @DISEASE$ and @PHENOTYPICFEATURE$ hypopnea syndrome].	false
+a91377ef5a0492df43818f0f3f3a5e5d646451d2	Our understanding of obesity-associated asthma, @PHENOTYPICFEATURE$, and @DISEASE$ is still expanding.	false
+78c03c689619759982aefc99f977e0363409e493	Obesity is associated with many respiratory diseases, especially sleep-related breathing disorders including @PHENOTYPICFEATURE$-hypopnea syndrome, @DISEASE$, and overlap syndrome.	false
+90f7697ff5330f8f10cd752e42cd66d95c6f193c	@PHENOTYPICFEATURE$ and @DISEASE$ pose unique challenges in the perioperative setting.	false
+77a7851f4f65c75d701aae216d7c89626d3df285	[@PHENOTYPICFEATURE$-hypopnea syndrome complicated with @DISEASE$: a case report].	false
+3b00c7d0c11befe27a17102832b6eca5e86cf093	The spectrum of sleep disordered breathing ranges from intermittent snoring to the @DISEASE$ with the @PHENOTYPICFEATURE$/hypopnea syndrome fitting somewhere in between.	false
+1b3321234d727c9e56ad94fc6c8a4dda80f809f6	Weight reduction is valuable therapy for patients with obesity and pulmonary dysfunction, obesity and @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ff8d54d1101d437ae7b37021a6fc4cb2a3d0e62f	Beyond the regenerative capacity of these cells, studies have shown that pericytes play crucial roles in various pathologies in the lung, both acute (acute respiratory distress syndrome and sepsis-related @PHENOTYPICFEATURE$) and chronic (pulmonary hypertension, lung tumors, @DISEASE$, asthma, and chronic obstructive pulmonary disease).	false
+b3191502300103ad0391fbde4f8f7e2a8d0247f0	Biochemical surfactant abnormalities of varying degrees have been described in obstructive lung diseases (asthma, bronchiolitis, chronic obstructive pulmonary disease, and following lung transplantation), infectious and suppurative lung diseases (cystic fibrosis, pneumonia, and human immunodeficiency virus), adult respiratory distress syndrome, @PHENOTYPICFEATURE$, other diseases specific to infants (chronic lung disease of prematurity, and surfactant protein-B deficiency), interstitial lung diseases (sarcoidosis, @DISEASE$, and hypersensitivity pneumonitis), pulmonary alveolar proteinosis, following cardiopulmonary bypass, and in smokers.	false
+d1698c62c8b901db0fc9429d51688f228a9e6ba3	Five groups were studied: I, 10 normal patients; II, 10 patients with cardiogenic @PHENOTYPICFEATURE$; III, 23 adult respiratory distress syndrome (ARDS) patients in the early phase; IV, 14 ARDS patients in the late fibroproliferative phase; and V, 10 @DISEASE$ patients.	false
+3aa4b3fe52d6a820021fc0f2269edb5feff649b3	Pulmonary vascular abnormalities are frequently present in patients with respiratory disorders, including chronic obstructive pulmonary disease, @DISEASE$, sarcoidosis, neuromuscular or chest wall disorders, and disorders of ventilatory control including @PHENOTYPICFEATURE$ syndromes and obesity hypoventilation syndrome.	false
+591f6eafb2f1cb946a4950a431398baea17b46ef	The pictorial includes images of normal anatomy, emphysema, @DISEASE$, Langerhans cell histiocytosis, sarcoidosis, bronchiolitis obliterans organizing pneumonia, desquamative interstitial pneumonia, nonspecific interstitial pneumonia, lymphocytic interstitial pneumonia, @PHENOTYPICFEATURE$, tuberculosis, cytomegalovirus pneumonia, bronchiectasis, and panbronchiolitis.	false
+9fddfb1708608fb986518cade8840c007ff09709	Their plasma levels were also elevated significantly early at the onset of ALI (mean +/- SD; 147 +/- 82 ng/ml in non-surviving and 90 +/- 56 in surviving patients) as compared with those in the patients with cardiogenic @PHENOTYPICFEATURE$ (59 +/- 36) or @DISEASE$ (37 +/- 17), indicating alveolar epithelium rapidly secrete laminin-5 in ALI.	false
+a8d45f81f0a1b35e7386f474dd0ab91634889159	We demonstrate that this mutation arose de novo, the first demonstration of a pathogenic de novo @PHENOTYPICFEATURE$ in ABCA1 associated with @DISEASE$.	false
+0a0bc098685db53cf985c3fd3d5f8fd359aa2581	The 'Gene interactions' session chaired by Rudolph Poledne (Prague), and 'Novelties' chaired by Hans Dieplinger (Innsbruck), reported elegant models of cross-bred, tissue specific knock-out or YAC-transgenic mice for lipoprotein metabolism, and descriptions of gene interactions in polygenic disorders or new loci for familial lipid disorders (familial combined @PHENOTYPICFEATURE$, metabolic syndrome and @DISEASE$) in humans.	false
+af0cc36f93af16d1ac029f99107c360efc7ccd0b	Data from animal models and humans, including humans with @DISEASE$, who are characterized by very low HDL cholesterol levels, are frequently associated with @PHENOTYPICFEATURE$ and T2D.	false
+5a028c5889d53df37ca04d7a15539028bf4112b5	The patient presented with @PHENOTYPICFEATURE$ and weight loss lasting months, and the laboratory findings revealed high sedimentation rate, @DISEASE$, thrombocytosis, elevated alkaline phosphatase, decreased thromboplastin time and polyclonal hypergammaglobulinemia.	false
+2c55decdabd77965d4f010970cb3e8c259375938	This study examines the association of SES with risks of @PHENOTYPICFEATURE$ and @DISEASE$, using interview data from 696 case mothers (86% of eligible) and 734 (78%) control mothers from a population-based case-control study.	false
+308d10c2de76feb06c15f06d0b220e37c9efd032	Their offspring, however, did have a higher prevalence of certain types of defects, including @DISEASE$; @PHENOTYPICFEATURE$; cardiac septal defects; and, to a lesser extent, hydrocephaly and abdominal wall defects.	false
+59608c5bc168b20bc18d69d9c2b13099aae8f5b6	The second study included an additional 265 infants with NTDs, 207 infants with @PHENOTYPICFEATURE$, 409 infants with @DISEASE$, and 481 control infants.	false
+7d45c1872a58b5d3c9c336f3a33f688d7b515a56	Findings using hospitalization data were similar to recent reports using birth defect surveillance systems with the exception of findings for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d347af15a1bdde0734fe20f85eec76c752bbd384	Women with pre-pregnancy obesity (body mass index 30+) had a twofold increased odds of having an infant with neural tube defects, @PHENOTYPICFEATURE$, @DISEASE$ and limb reduction defects and 30-40% increase in heart defects generally and urinary tract defects.	false
+f3c7cd6e701afd46520b8697719a4b41165d5da0	Socio-economic status and risk of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+16f9d8b35ea3ef18e2fbdf13758dfde19d7d6920	On the etiological plan, biliairy cirrhosis (Extra hepatic @PHENOTYPICFEATURE$, dilatation of choledocal cyst, progressive familial intrahepatic cholestasis...) were the most frequent (40%) followed by metabolic cirrhosis(@DISEASE$, Wilson disease...) (17 %) and post-hepatitic cirrhosis (17%).	false
+8f57325571eedb648e23dd7074e02e52da11c066	Among the 39 cases with identified etiologies, inherited metabolic diseases were on top of the list, including 6 kinds and 27 cases in total, i.e., neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, 21 cases), transient galactosemia, @DISEASE$, galactose kinase deficiency, ornithine carbamoyl transferase deficiency and glycogen storage disease type I, followed by acquired causes (7 cases in total), such as total parenteral nutrition associated cholestasis (TPNAC), congenital syphilis and CMV hepatitis; and then biliary tract malformation (5 cases in total), including @PHENOTYPICFEATURE$, Caroli's disease and gallbladder polyp, were the third.	false
+80f4a4c4c12ca63f95bc4121f7a6118e504dd72b	The availability of a unique series of liver samples from human subjects, both control patients (9) and those with liver disease (6; @PHENOTYPICFEATURE$ (2), retransplant, chronic tyrosinemia @DISEASE$, Wilson's disease) allowed us to characterize human hepatic UDP-glucuronosyltransferases using photoaffinity labeling, immunoblotting and enzymatic assays.	false
+f7cdd94e15ab0355bbd972f7a97697e48b56f748	Various diseases of the peripheral retinal vasculature, such as sickle cell retinopathy and @DISEASE$, demonstrate @PHENOTYPICFEATURE$.	false
+3caee455429b8f5dec40c4ae887a8d0dc8aa9569	According to the physical examination and laboratory analyses, patient was diagnosed with lithium-associated hypercalcemia, @PHENOTYPICFEATURE$, @DISEASE$ (NDI), symptomatic sinus bradycardia, and thyroid dysfunction.	false
+e173e66bc9d7d79cfc3265a25b36b35483089bd1	Thus, the genes causing X-linked hypophosphataemic rickets, Lowe's syndrome, Di George syndrome, X-linked recessive @PHENOTYPICFEATURE$, multiple endocrine neoplasia Type I, primary hypomagnesaemia and X-linked @DISEASE$ have been mapped.	false
+bd1bc33697c19b2ac43db97b5d511c51cb318449	Mutations in plasma membrane are involved in a large number of clinical disorders, including dwarfism, Laron syndrome, congenital hyperthyroidism or hypothyroidism, @DISEASE$, resistance to TSH, LH, FSH and ACTH, Jansen's metaphyseal chondrodysplasia and autosomal dominant @PHENOTYPICFEATURE$.	false
+2cf2b95cbf4a15f8240bbe244ed85f3da1c4f953	Autosomal dominant @PHENOTYPICFEATURE$: a proband with concurrent @DISEASE$.	false
+c539fc731a741ce7fb6d36d4719097a9fecc0b7a	Hyperuricemia due to the decreased renal uric acid clearance is associated with @PHENOTYPICFEATURE$, hypothyroidism, hyperparathyroidism, central diabetes insipidus, @DISEASE$, Bartter syndrome, and diabetic ketoacidosis.	false
+e58abbcfa798187231709751e84e31b229c37037	In this paper we report an extended family with well documented autosomal dominant @PHENOTYPICFEATURE$ which was ascertained through a proband with coincident @DISEASE$.	false
+7f675ae42ad466c414d073da5a1eff4c119521b1	Urosepsis, dehydration, kidney stone disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e14be743035768de369332de97d04e17568bd1fe	c.1137del, c.2498-2499del, and c.1833delT) presenting with variable degrees of @PHENOTYPICFEATURE$, hypercalcemia, hypokalemic metabolic alkalosis, nephrocalcinosis, and @DISEASE$.	false
+7f60a7e35fff2bb90056e2b915f4449d6ad124ef	Mutations in GPCRs have been associated with dwarfism, congenital hyperthyroidism or hypothyroidism, @DISEASE$, obesity, resistance to TSH, LH, FSH and ACTH, Jansen's metaphyseal and Blomstrand's chondrodysplasia, autosomal dominant hypoparathyroidism, and neonatal severe @PHENOTYPICFEATURE$.	false
+03ca692da037915079c66a37dc99ebb9c898b531	Mutations in GPCRs have been associated with dwarfism, congenital hyperthyroidism or hypothyroidism, @DISEASE$, obesity, resistance to TSH, LH, FSH and ACTH, Jansen's metaphyseal and Blomstrand's chondrodysplasia, autosomal dominant @PHENOTYPICFEATURE$, and neonatal severe hyperparathyroidism.	false
+695d4e8ab0efd2c8da4ef2783418e66b3ee122c9	Our patient developed the adult respiratory distress syndrome (ARDS), @DISEASE$ (DI), distinctive @PHENOTYPICFEATURE$, and hyperglycemia.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+5505d629fc463039f65253f30800029926485ab7	Known percentages of risk include those of @PHENOTYPICFEATURE$ children, Down's syndrome, native American Indians and @DISEASE$.	false
+46adb1ea344ba7ea6fe626157c4663c28e36e6b6	However, there is a risk for Post-paracentesis Circulatory Dysfunction (@DISEASE$) leading to hyponatremia, @PHENOTYPICFEATURE$, or worsening portal hypertension.	false
+e22fcea6d281b099d2ae47144ae8bea6de79ec08	The @PHENOTYPICFEATURE$ of four patients with anti-Yo-associated PCD and nine ovarian carcinomas from patients without @DISEASE$ were examined for the expression of GluRs.	false
+e083bf08c21f182c07b60f6b584d754aaf343e0e	The @PHENOTYPICFEATURE$ of four patients with anti-Yo-associated @DISEASE$ and nine ovarian carcinomas from patients without PCD were examined for the expression of GluRs.	false
+8a0a36b9262a68043549f6150c88e452449b67c4	In the mutant Reeler mouse, its absence causes neuronal mispositioning, with a notable degree of @PHENOTYPICFEATURE$ that was tentatively related to an increase in @DISEASE$.	false
+953b414034276646cd2a1da24a2bab32fdba07ea	To observe the changes of programmed cell death (PCD) in C57BL/6N strain mouse @PHENOTYPICFEATURE$ formation and study related gene of @DISEASE$ in future.	false
+2115399b73b0022826c47946ef6a947e9c9b449a	To observe the changes of programmed cell death (@DISEASE$) in C57BL/6N strain mouse @PHENOTYPICFEATURE$ formation and study related gene of PCD in future.	false
+9e2d4a781c79268e4b4243f99e2aab56e76594f2	Paraneoplastic neurological syndromes with ophthalmologic involvement include optic neuropathy, opsoclonus-@PHENOTYPICFEATURE$, Eaton-Lambert myasthenic syndrome, paraneoplastic cerebellar degeneration (@DISEASE$) and rhombencephalitis.	false
+0f79142baf28e5e84c5212c88410db85638974c0	Seronegative and seropositive @DISEASE$ patients with similar @PHENOTYPICFEATURE$ had a similar overall survival.	false
+f65420e8aa673cd2b1d7ab4f74d7b6562ac5e719	This study investigated @DISEASE$ induced by DFNA5, a gene responsible for @PHENOTYPICFEATURE$ hearing loss (HL) and a tumor suppressor gene (TSG) involved in frequent forms of cancer.	false
+5077ab96c0a61e56580cb73c8f7c24097664f6c9	This study investigated @DISEASE$ induced by DFNA5, a gene responsible for autosomal dominant hearing loss (HL) and a @PHENOTYPICFEATURE$ suppressor gene (TSG) involved in frequent forms of cancer.	false
+b51ae971afb05186e6eab275c20fcdbc22c30e3c	However, LVP can lead to postparacentesis circulatory dysfunction (@DISEASE$), which is associated with faster ascites recurrence and @PHENOTYPICFEATURE$.	false
+03d3bbee390bc800a2516b61f5b4b111b90ae5cc	GH/@DISEASE$ also exacerbated HFD-induced endothelial dysfunction, oxidative stress, and expression of inflammatory markers (@PHENOTYPICFEATURE$ necrosis factor-?, ICAM-1) in aortas of Lewis dwarf rats.	false
+a8630c1be1040ed3c2370bdd4f33118a4377817d	In contrast, these changes occurred in iLID mice with acute @DISEASE$, in the same manner as the control animals, revealing a fundamental difference in the nature of the requirement for IGF-1 on @PHENOTYPICFEATURE$ growth and metastasis.	false
+66e1cb579c5811c1d515b9f1ef88ee7acc3efc25	Recombinant insulin-like growth factor-1 as a therapy for @DISEASE$ in @PHENOTYPICFEATURE$.	false
+4aee89b2004a33a4a29d51efa02a737fca95949b	Furthermore, data are consistent with the concept that homozygous congenital @DISEASE$ may confer protection against future @PHENOTYPICFEATURE$ development.	false
+3d1a9da1e0414df8f4b4a723bfadbc3338e6b03f	Point mutations of this gene have also recently been associated with @PHENOTYPICFEATURE$ and myelodysplastic syndrome (@DISEASE$).	false
+7b65947f69c803b6014a4dbe85c74282553c8a6f	Low-risk myelodysplastic syndrome (@DISEASE$) is characterized by cytopenia, mainly @PHENOTYPICFEATURE$, because of ineffective hematopoiesis.	false
+2409181ea0d303338a7e065126713725e44244e5	Furthermore, @DISEASE$ patients infrequently had isolated @PHENOTYPICFEATURE$ (14%) as opposed to those without MDS (75%).	false
+34bfd2ff5253145d94cb7be922c9edf0688a023a	We conclude that low-dose etoposide is a potential therapy for @DISEASE$ and atypical @PHENOTYPICFEATURE$.	false
+8b08c6b88cd51bcef9465fc0a2db5ea8e0edae60	Patients with @DISEASE$ frequently experience chronic, symptomatic @PHENOTYPICFEATURE$, and many become dependent on chronic transfusions of packed red blood cells.	false
+ac1c879dd53dac6d7f1c1eb26544247fbd5444db	We evaluated obatoclax in untreated @DISEASE$ patients with @PHENOTYPICFEATURE$/thrombocytopenia.	false
+4c7d446d2013095add99bd7a0c12d1f3d000a620	The myelodysplastic syndromes (@DISEASE$) display both haematological and biological heterogeneity with variable @PHENOTYPICFEATURE$ potential.	false
+2027111c76caa1df667909e61da823f4dcb3be1e	Alleviating cytopenias, namely @PHENOTYPICFEATURE$, is the main goal of therapy in lower-risk myelodysplastic syndromes (@DISEASE$).	false
+6b51975e49a5853f87abb2990baff96dd8055edc	Almost all patients with @DISEASE$ presented @PHENOTYPICFEATURE$; additional cytopenias were present in many patients.	false
+c3538c3a5fe57c3ba6fbf2f232ceb97ea14388e2	We report five patients with history of @DISEASE$ who manifested different spectrums of autoimmune phenomena including: pyoderma gangrenosum (PG), vasculitis, Coombs negative @PHENOTYPICFEATURE$, idiopathic thrombocytopenia, and chronic inflammatory demyelinating polyneuropathy (CIDP).	false
+efa10c796ccdd2c586993bc27c8bb8985a9c4009	The syndrome has a broad phenotypic spectrum including multiple anomalies, of which cleft palate (CP), @PHENOTYPICFEATURE$ (CHD), and mental @DISEASE$ are among the most common.	false
+bed007ceaee05e431527bc7abea146a9f639686a	The data show no significant differences between second- and third-cousin and non-consanguineous couples in physical, mental or @PHENOTYPICFEATURE$ and blindness @DISEASE$.	false
+6940e75c6b9d60bab051b90fba337bdbe3577f34	Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairment, @PHENOTYPICFEATURE$, mental disability, or @DISEASE$ following brain tumours were asked to freely express their concerns and hopes for the future and to assess disability in their own children by employing a set of 26 International Classification of Functioning, Disability and Health, Children and Youth Version (ICF-CY) body function (b) codes and activity and participation (d) codes.	false
+a23904e59cc7fecf6a61953d5a06d6d9d3e2d16f	Ring chromosomes are structural aberrations commonly associated with birth defects, mental @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7e31f5ed2ff35883dff6dbdefa964735447ccc48	Ethical issues are already around regarding prenatal testing for @DISEASE$ like @PHENOTYPICFEATURE$ and late onset disorders.	false
+e96181a5a0966a70aca39719b6da9bd325886a1f	In addition to HSCR, characteristic facial appearance (@PHENOTYPICFEATURE$ with strabismus and wide nasal bridge), microcephaly with epilepsy, and severe physical and mental @DISEASE$ were found in all the patients.	false
+8a0edf78c4729e5dab272382af610ba99a086b8c	On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly @DISEASE$ limb deficiency, @PHENOTYPICFEATURE$, kidney malformations, absence of gallbladder, and vertebral anomalies.	false
+64d27c5151cac7345aa05c4f5f996fe71f314331	On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly @DISEASE$ limb deficiency, heart defects, @PHENOTYPICFEATURE$, absence of gallbladder, and vertebral anomalies.	false
+3c2c12de3b81eba7e76340d7added835d17325d1	Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe @PHENOTYPICFEATURE$, malar hypoplasia, and @DISEASE$ limb defects.	false
+6d6ed2c7efcb44281516b2d91519b21079600f06	Our patient had the characteristics of the syndrome: vertebral defects, anal atresia, @PHENOTYPICFEATURE$, tracheal stenosis and @DISEASE$ dysplasia.	false
+a6ead7899524f7095fb61dfb5db6005c0f2d6123	While anal atresia was not so common in our patients, @PHENOTYPICFEATURE$ and @DISEASE$ limb dysplasia occurred somewhat more frequently.	false
+5cc553f9345abf5169671ab5966c949bbba83c28	We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, @PHENOTYPICFEATURE$, urogenital malformations, and unilateral @DISEASE$ aplasia.	false
+74a150543d49a09623399b3a65139a75d03b5c62	We report a fetus with @PHENOTYPICFEATURE$, cleft palate, polysyndactyly, brachycephaly and proximal @DISEASE$ hypoplasia.	false
+d2c143d8fe51c17ddb0fd0590454540924414ddb	We describe a fetus with abnormal ultrasound (US) imaging at 20 weeks showing @PHENOTYPICFEATURE$ and @DISEASE$ aplasia.	false
+12326d9fb83d5a8eca3b3d18148e228ed7f9edb3	Nager syndrome or acrofacial dysostosis is a rare and complex malformation characterized by ear anomalies, @PHENOTYPICFEATURE$, @DISEASE$ limb hypoplasia, and absence of the thumb or other fingers.	false
+0535fd48c521f129f42ab9e2c9b9b4cfd0e5991e	The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with @DISEASE$ ray hypoplasia, @PHENOTYPICFEATURE$, external ophthalmoplegia, and thrombocytopenia.	false
+4bab424f74b92c956b115c7217278a06623a635c	[@DISEASE$ aplasia and @PHENOTYPICFEATURE$.	false
+b7f5fa1334c989f30ba25eae9b65591e8a501d6d	Reimplantation of frozen autogenous lesioned mandible was performed in 31 patients with mandibular @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c18a7ab532af2c15e224a604b0440d57cdeb84ba	Forty-one @PHENOTYPICFEATURE$, metastases or @DISEASE$, 17 infections, 12 bone alterations (e.g.	false
+2325a7348be863ce22c7cc66c56e5c53b4a2fe6e	@DISEASE$ (SBC) are benign @PHENOTYPICFEATURE$-like lesions, generally occurring in the metaphyses of long bones before skeletal maturity.	false
+c18fc5348f233b42637bed4428c1d6dd50f31a92	They are frequently misdiagnosed as other @PHENOTYPICFEATURE$, especially @DISEASE$ or aneutysmal bone cysts when found within the calcaneus.	false
+39eda78ceee3ce3eaa2b78dd32a81eb4d912ba2a	They are frequently misdiagnosed as other @PHENOTYPICFEATURE$, especially unicameral bone cysts or aneutysmal @DISEASE$ when found within the calcaneus.	false
+07877cbadece85b01f53fc489220a9b5ff4c545b	Unicameral (or simple) @DISEASE$ (UBC) are benign @PHENOTYPICFEATURE$ most often located in long bones of children and adolescents.	false
+e656e843172cb966e2ce73c27e796136a5b6184a	Skeletal involvement such as generalized osteopenia, bone resorption, @DISEASE$ and Brown @PHENOTYPICFEATURE$ are seen on the late phase of hyperparathyroidism.	false
+86fed85326fc4a6590cfbf6ed5d8928b1e95f120	Unicameral, or @DISEASE$ are unusual @PHENOTYPICFEATURE$ seen in the ends of long bones in skeletally immature persons.	false
+6ad2edaacd64391cd54c10b3fdf54fe011fb83b2	Giant-cell @PHENOTYPICFEATURE$, osteitis fibrosa, and @DISEASE$.	false
+cae72a15e98eb56aa716dd65336fb9ce1cef255b	All primary skeletal tumours can be found in the hand and are most often of cartilage origin followed by @DISEASE$ and osteogenic @PHENOTYPICFEATURE$.	false
+227b580da7a0b3492d5771cca3f534ac545059e6	All primary skeletal @PHENOTYPICFEATURE$ can be found in the hand and are most often of cartilage origin followed by @DISEASE$ and osteogenic tumours.	false
+cc17b9fc39e4214d52f7e3a3f2fc8fc41d34e49a	Aortic coarctation, progressive @DISEASE$ and jaw @PHENOTYPICFEATURE$ may be associated.	false
+3cc41ab4450a08a8617f0cd4fee6748d9bb4badf	@DISEASE$ and @PHENOTYPICFEATURE$, ?	false
+23a5c4dbba1dcb0d80e978f732296bea8358656d	Three other cases of the @DISEASE$ with @PHENOTYPICFEATURE$ are cited from the literature.	false
+af5017b20508a9ff19470ac7f32a672446d6b77d	Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly @PHENOTYPICFEATURE$ with orofacial findings almost identical to those of the @DISEASE$.	false
+03d0febb1f38262d9551c13aecb78c66305c527a	We describe a case of @PHENOTYPICFEATURE$ associated with anti-Hu antibodies and benign @DISEASE$.	false
+77fbd682687a4a6da57dd3006ce940c373e5b10f	A rare cause of chronic @PHENOTYPICFEATURE$ in childhood: @DISEASE$.	false
+c72f3317d51206953b5d6fa844bb587c82624f0e	Anticerebellar antibodies were detected from the plasma in this patient and in a two and a half year-old girl with @PHENOTYPICFEATURE$ secondary to an adrenal @DISEASE$.	false
+b06fa51f91b967d4d410ce8bd42cdd9fcd28c3a3	[A case of recurrent paraneoplastic @PHENOTYPICFEATURE$ with antibodies to GluR epsilon 2 causally related to @DISEASE$].	false
+367cb467a3a924aa58814d9e4703d62603e080ab	We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature @DISEASE$ in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and @PHENOTYPICFEATURE$.	false
+8044078807e73ab11fc65c17bc726cbee1f71531	Paraneoplastic @PHENOTYPICFEATURE$ associated with anti-Hu antibodies and benign @DISEASE$.	false
+d381be1b1004c1e8ffc221179aaed99a0d376e76	We present a boy with recurrent episodes of paraneoplastic @PHENOTYPICFEATURE$ associated with a @DISEASE$.	false
+eb53cdea68a483221a09c34d186fbfdcead32e85	A retroperitoneal @DISEASE$ was found in a 2-yr-old Labrador with posterior @PHENOTYPICFEATURE$ and atrophy of the muscles of the hind legs.	false
+8adb5c74e4573017a44e194b952f0053195ece61	Anesthesia management of a @DISEASE$ with @PHENOTYPICFEATURE$ presenting as pheochromocytoma.	false
+a257294c607b0e91f02ee5b0aac0da36847dd1e9	@DISEASE$ presenting with cerebral venous thrombosis, @PHENOTYPICFEATURE$, and seizures in the neonatal period.	false
+1f44369b3968ba135d2ca4ead1019efb906ef297	This disease differed from Alport's hereditary nephritis and @DISEASE$ in age of onset, urinary findings, and associated conditions, that is, nerve @PHENOTYPICFEATURE$.	false
+bdfec517b00644736b0c67a3dcc43128b4ec9544	[@DISEASE$, thrombosis of a renal vein and @PHENOTYPICFEATURE$.	false
+40a7d2d6ed4dfc326d74581a9d41a47a799cbbd0	Based on vignettes, 20.6% of participants would order genetic tests for isolated GDD and 95.0% for @DISEASE$ with dysmorphic features and @PHENOTYPICFEATURE$.	false
+4d27a19fc482a1176e09678c2f777d7469c6a3b7	Based on vignettes, 20.6% of participants would order genetic tests for isolated @DISEASE$ and 95.0% for GDD with dysmorphic features and @PHENOTYPICFEATURE$.	false
+579ec3b8902d1e5bf4cd3388417c008d14fc8a71	Its clinical phenotype is similar to @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (@DISEASE$), and differs from these disorders mainly by the absence of cleft lip and/or palate.	false
+9772a96acef5c60b9856c62d11bf14ff3047864b	Its clinical phenotype is similar to @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate (EEC) and @DISEASE$ (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate.	false
+b1e41195b148816f87ef91c1b1667f0773fb55f7	Two other overlapping syndromes with @PHENOTYPICFEATURE$ as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the @DISEASE$ and ADULT syndromes.	false
+5c5a1cf257e4ebcce739c10faf749aa8d5e10af5	We report on two unrelated families with EEC syndrome (@PHENOTYPICFEATURE$, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, @DISEASE$ (LMS).	false
+ba7336f59ade619cb5b5f86f3cd2cf71ffec2541	We report on two unrelated families with EEC syndrome (@PHENOTYPICFEATURE$, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb-mammary syndrome (@DISEASE$).	false
+4789a62fac3e2760b54aeeb3485df691cce1caf2	Comparisons of @PHENOTYPICFEATURE$-related postoperative complications and the EI were made between patients with and without an @DISEASE$.	false
+38fb8abe655f0aa8eae27def12ac1e29d07dbc2e	@PHENOTYPICFEATURE$ (@DISEASE$) belongs to the class of genetically complex sarcomas and shows numerous, often non-recurrent chromosomal imbalances and aberrations.	false
+df1597edabdb3cfb9952a00fa9d2be84cd993d59	They hypothesize that the @DISEASE$ would better predict symptomatic postoperative cerebral edema than the @PHENOTYPICFEATURE$ index (EI).	false
+8d68e23f9cc32ddb4f9391444cc1fbb1accfae76	@DISEASE$: a new genetic disorder with mammary hypoplasia, @PHENOTYPICFEATURE$, and other Hand/Foot anomalies maps to human chromosome 3q27.	false
+89571f55a5158e1e0a26d18c29f9031283e89247	Lenz-Majewski syndrome (@DISEASE$) is a rare disease characterized by complex craniofacial, dental, cutaneous, and @PHENOTYPICFEATURE$ combined with intellectual disability.	false
+4369b986b6c5587dc780e6f467526dc794841e18	Leiomyosarcoma (@DISEASE$) is a @PHENOTYPICFEATURE$ arising from smooth muscle cells, and accounts for 10-20% of all sarcomas.	false
+aacb4eb68546f20603212e20b8726d80394f0038	@PHENOTYPICFEATURE$ (@DISEASE$) is a sarcoma arising from smooth muscle cells, and accounts for 10-20% of all sarcomas.	false
+85742d770c36a5e3a988ad724d6ea9df9345624d	@PHENOTYPICFEATURE$ ectodermal dysplasia cleft lip/palate (EEC) syndrome and limb-mammary syndrome (@DISEASE$) share a similar phenotype and the same pathogenic gene, which complicates the ability to distinguish between these diagnoses.	false
+0707736018c3eb86ab6b3f085aa787909595dd68	@PHENOTYPICFEATURE$ ectodermal dysplasia cleft lip/palate (EEC) syndrome and @DISEASE$ (LMS) share a similar phenotype and the same pathogenic gene, which complicates the ability to distinguish between these diagnoses.	false
+30521e5197e68e82560b395fbb62175bf9731420	Intellectual disability, @PHENOTYPICFEATURE$ and behavioural difficulties are characteristic for these children with @DISEASE$.	false
+58421785b21eb3336f7f1f99a32c86db62a5e50b	@PHENOTYPICFEATURE$, language impairment and behavioural difficulties are characteristic for these children with @DISEASE$.	false
+6760c893bee9c0c9ef55186c9a0843930202856d	Motor skills, feeding abilities, type of @PHENOTYPICFEATURE$, intellectual disability, and communication disorders were associated with @DISEASE$.	false
+070476c0cc5b08bdcedcb18be4171d36f168d2a8	Motor skills, feeding abilities, type of spasticity, @PHENOTYPICFEATURE$, and communication disorders were associated with @DISEASE$.	false
+93bf6800e2b7bce858c91b0c3969d2162c2aa0fc	FOXP1 mutations, mostly truncating, have been described in patients with mild to moderate @PHENOTYPICFEATURE$ (ID), autism spectrum disorder (@DISEASE$), and speech and language impairment (MIM #613670).	false
+1c5bb18b751650f1c3105bcd513facd7d3b2b2f0	FOXP1 mutations, mostly truncating, have been described in patients with mild to moderate intellectual disability (ID), autism spectrum disorder (@DISEASE$), and speech and @PHENOTYPICFEATURE$ (MIM #613670).	false
+503325fb1bff5a4297cca5cc8540572e1236544f	Perhaps most striking has been the revelation that @DISEASE$ mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, intellectual disability, @PHENOTYPICFEATURE$, epilepsy and typical development.	false
+6a5d524bef54a57717c4d82eabdbcb4c586d8c48	Perhaps most striking has been the revelation that @DISEASE$ mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, @PHENOTYPICFEATURE$, language impairment, epilepsy and typical development.	false
+7c38afc6b013ca6ac0105d3c4632d62fc03c493c	MBOAT7 gene pathogenic variants are a newly discovered and rare cause for @PHENOTYPICFEATURE$, autism spectrum disorder (@DISEASE$), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations).	false
+ece74aca2ab304d927e2f68552c129f4d64aced1	MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (@DISEASE$), @PHENOTYPICFEATURE$, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations).	false
+93968cc6012f1130f5d3d7a2617308ed72474ed4	MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (@DISEASE$), seizures, truncal hypotonia, appendicular @PHENOTYPICFEATURE$, and below average head sizes (ranging from -1 to -3 standard deviations).	false
+b5f73b4cea835ed0aaba8c9ed089b72add386fbd	Individuals severely affected by autism spectrum disorder (@DISEASE$), including those with @PHENOTYPICFEATURE$, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data.	false
+bde639d839330f43ff425892451e93b7695b2b6f	Individuals severely affected by autism spectrum disorder (ASD), including those with @PHENOTYPICFEATURE$, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the @DISEASE$ literature and extant collections of phenotypic and biological data.	false
+94c8d5290fb6c2ff681b0824101d138289937691	Individuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive @PHENOTYPICFEATURE$, and/or self-injurious behavior (SIB), are underrepresented in the @DISEASE$ literature and extant collections of phenotypic and biological data.	false
+949bbd8d0bb95684b0282c479e47c898a05881e5	Individuals severely affected by autism spectrum disorder (@DISEASE$), including those with intellectual disability, expressive @PHENOTYPICFEATURE$, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data.	false
+c20e1bb09b622a36878849eac2683c03f9f995af	Familial combination of @PHENOTYPICFEATURE$, type E and @DISEASE$, type II.	false
+151063f0ed44d3b4ffba17afb1632cb6edf628fc	mutations and deletions have described the presence of autism spectrum disorder (@DISEASE$) traits, intellectual disability, @PHENOTYPICFEATURE$, and psychiatric features.	false
+73d579afe0c64a263692083aa93860dac66949ae	mutations and deletions have described the presence of autism spectrum disorder (@DISEASE$) traits, @PHENOTYPICFEATURE$, language impairment, and psychiatric features.	false
+c56675fd163dacbfe71c14e1d5b2e50c8239c4b5	Common co-morbidities in syndromic forms of @DISEASE$ include @PHENOTYPICFEATURE$, seizures, and obesity.	false
+073a83ef3168a92ec468f5f147a191187e878380	Common co-morbidities in syndromic forms of @DISEASE$ include intellectual disability, @PHENOTYPICFEATURE$, and obesity.	false
+29b4de279114d1ee4cf1418a180b536fae1b8b53	can include @DISEASE$, @PHENOTYPICFEATURE$, and/or other primary psychiatric disorders.	false
+766fc552aa13c030e8d44bb920b9ce48d9f8a874	To report the case of a young patient affected by @PHENOTYPICFEATURE$ 1 (NF-1) with peripheral retinal ischemia-induced @DISEASE$ and the peculiar spectral-domain optical coherence tomography (SD-OCT) features.	false
+8e2c62f4e0d7998d9605f54ea2508a9c35c828e7	38% of the patients with @DISEASE$ had associated @PHENOTYPICFEATURE$.	false
+98c66e38f6c36260959b48fd48e5069c8a392b02	In addition, 11 patients (38%) with @DISEASE$ had associated @PHENOTYPICFEATURE$.	false
+26953f5174937158297f4caee2839475c9f8f66d	Acute @PHENOTYPICFEATURE$ in a child with @DISEASE$: case report and review of the literature.	false
+fd231e75388f9e45e9ad284ec0a5691432134415	For in vivo study, the DBA/2FG-pcy mouse, a model for human @DISEASE$ resulting in chronic renal failure with progressive @PHENOTYPICFEATURE$, was used.	false
+1b12de17602886bbb41029ea71b04c11f4568867	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5e2e559045e9d127deee83ad92772d431be757ff	The clinicopathological spectrum of Rosenthal fibre @PHENOTYPICFEATURE$ and @DISEASE$: a case report and review of the literature.	false
+c0390de8bab3641b0165d15d7159f42e52e8c8ae	Here, we compare and contrast the gross and microscopic findings of cysts associated with cases of PDH and SCEH deficiencies with other neonatal cystic brain diseases including periventricular leukomalacia, neonatal @DISEASE$, Canavan disease, and a case of cysts associated with a @PHENOTYPICFEATURE$.	false
+6ce1c08dc1579bf46f31588ceb0e2d23e8737f0b	Thirty-three @DISEASE$ patients exhibited paroxysmal numbness or @PHENOTYPICFEATURE$ in the unilateral limbs.	false
+ebb92f7e23613025893b8af10b9f17f24eb0b42a	We aimed to determine whether these values signal hypocalcemia and @PHENOTYPICFEATURE$, secondary hyperparathyroidism, high bone remodeling, low areal bone mineral density (aBMD), microstructural deterioration, or reduced matrix mineralization density (@DISEASE$) and so suggest whether bone fragility is present.	false
+ad1e44a5831ef48fb67c0ab7f740f008a9fa3b74	We report on an extremely rare case of a giant @DISEASE$ (SFT) of the mesentery in a 65-year-old male who was admitted to our hospital because of lower @PHENOTYPICFEATURE$ and abdominal fullness.	false
+656ef93edc58cd036f44e85cdcd9541b1b2ae42f	Surgically correctable hypertension has also been reported in some patients with large @PHENOTYPICFEATURE$ and renal tumors (@DISEASE$, Wilm's tumor, hypernephroma, renal pelvic tumor).	false
+c28c3a8f2c8b59f4508c7e94a33bddf4872c4305	A 40-year-old male presented with @DISEASE$ in the lateral ventricle manifesting as headaches persisting for 6 months associated with @PHENOTYPICFEATURE$ and visual obscurations for one month.	false
+b6f6c188d9855eaf337600aa2d41061a7ba81d94	A 23-year-old man with a left intraventricular @DISEASE$ presenting with headache, word-finding difficulties, blurred vision, nausea, @PHENOTYPICFEATURE$, photophobia, and right-sided weakness and numbness.	false
+5cc82d890bc1790f56c0f742437f818a98da2423	We report on a case of @DISEASE$ of the pancreas in a 53-year-old female presenting with @PHENOTYPICFEATURE$.	false
+368e70912e0ef654b1055e1ccbdfa44b15528d88	A 31-year-old male presented with intracranial @PHENOTYPICFEATURE$ @DISEASE$ manifesting as a rapidly enlarging extracranial soft tissue mass lesion causing a subcutaneous mass in the forehead.	false
+27bdb624e6b2a421c91675ba42f961ed7f73fd88	A 58-year-old female presented with a rare case of intracranial @DISEASE$ (SFT) manifesting as progressive @PHENOTYPICFEATURE$ and hearing loss on the left persisting for 6 months with recent symptoms of increased intracranial pressure.	false
+acdc4ab97912b902423224c80d41e45ef01d861d	We report a case of a malignant @DISEASE$ in the bilateral basifrontal region in a 50-year-old woman who presented with intermittent headache and @PHENOTYPICFEATURE$ and was clinicoradiologically diagnosed with meningioma.	false
+1648cfe68b91d5bc310b89a2629e93650fd0693d	We report a case of hepatic @DISEASE$ in a 56-year-old female, who presented with right upper @PHENOTYPICFEATURE$.	false
+2d557309983e4d6af9916c04eebc55c8872e617b	We report the first known case of malignant @DISEASE$ of the tongue in a 57-year-old female patient who experienced rapid growth of a longstanding right anterior tongue mass, with associated @PHENOTYPICFEATURE$ and dysarthria.	false
+0fa55d8a54ff7adda4f06346ebbc2795d58ad3dd	Using CD31 and Factor VIII, we analyzed the @DISEASE$ and found that it was significantly higher in @PHENOTYPICFEATURE$ than in postauricular skin, and significantly correlated with the expression of EGFR.	false
+4acf1b3b8ed67bc287b7847a56f930dee032cd5b	Variables such as body-mass index, smoking and drinking habits, cardiac disease, diabetes mellitus, cerebrovascular disease, mean operative time, affected vessel, mean blood loss, postoperative intensive care unit stay, postoperative fever (>38?C), and routine laboratory results were not associated with PODE in our patients.PODE is a common complication after @DISEASE$, and is associated with multiple risk factors, including old age, male sex, hypertension, preoperative carbamazepine use, postoperative @PHENOTYPICFEATURE$, and tension pneumocephalus.	false
+a24240027eeceb21ab51f03e5e3e966dd9936500	We evaluated the expression of EGFR and @DISEASE$ by immunohistochemical staining for CD31 and Factor VIII in 32 @PHENOTYPICFEATURE$ tissue samples and 7 normal postauricular skin samples.	false
+b18d715475fc3a39f24e54f8519fae0c32697c99	Indications for @DISEASE$ were trigeminal neuralgia (n?=?77, 79?%), glossopharyngeal neuralgia (n?=?4, 4?%), hemifacial spasm (n?=?16, 16?%) and combined trigeminal neuralgia and @PHENOTYPICFEATURE$ (n?=?1, 1?%).	false
+f005f81b48ca1760eef7067e45592ad626090925	Indications for @DISEASE$ were trigeminal neuralgia (n?=?77, 79?%), glossopharyngeal neuralgia (n?=?4, 4?%), @PHENOTYPICFEATURE$ (n?=?16, 16?%) and combined trigeminal neuralgia and hemifacial spasm (n?=?1, 1?%).	false
+28ee52589a14c657280cc2b5ead4f1611e3db7b9	We present a series of nine patients with early-onset @PHENOTYPICFEATURE$ who had seizures and continuous spikes and waves during slow sleep (@DISEASE$) associated with neurocognitive and motor deterioration.	false
+609c5673ec063238e8403a8939513537c000decb	We describe a 3-year-old boy with tuberculous meningitis complicated by @PHENOTYPICFEATURE$ and CSWS and emphasize the different clinical presentation and management of patients with @DISEASE$ and the syndrome of inappropriate secretion of antidiuretic hormone.	false
+8ad8f3f4a8a4903504f40eb06a2619c31e20499b	The usefulness of monitoring sleep EEG in patients with @PHENOTYPICFEATURE$ or thalamic lesions is stressed, considering the effects of CSWS on the cognitive competencies and the soft or subclinical course that epilepsy complicated with @DISEASE$ may follow.	false
+bd20af22a68ecbd07812b11ce8e91a35af8cfe53	We describe the results of serial cognitive assessments in a girl with shunted early-onset @PHENOTYPICFEATURE$, followed by partial epilepsy complicated with @DISEASE$ at 4 years 10 months, in which a dramatic cognitive and behavioral deterioration occurred few months after CSWS onset.	false
+fa85d1f3d5ee5b420beb8e4446f299ee0b9b5219	The @DISEASE$ is characterized by craniosynostosis and @PHENOTYPICFEATURE$ of hands and feet.	false
+7347439fcc22e05e7d95dc69058ecf9f505629f9	[Surgical treatment of hand @PHENOTYPICFEATURE$ in @DISEASE$].	false
+add4ae7a8e2101263f23d17c1b7b11581d8c2293	@PHENOTYPICFEATURE$ correction of the hand in @DISEASE$.	false
+414efebebc9d167bac0924e8835aecb57296cb78	@DISEASE$ is a congenital condition characterized by craniosynostosis, @PHENOTYPICFEATURE$, and maxillary hypoplasia.	false
+a6255ab9d1ba7b0bad2e47092215312848fb945c	Between 1995 and 2010 seven patients with @DISEASE$ underwent reconstructive surgery of the complex hand @PHENOTYPICFEATURE$.	false
+5ea91ed366d868b70e591f2a3c0df0eb7efa778a	@DISEASE$ is characterized by craniosynostosis, midfacial hypoplasia and bilateral @PHENOTYPICFEATURE$.	false
+3a588663ea1e78d613dc64b7f9406bf0ce5e18ea	Acrocephalosyndactyly Type I, or @DISEASE$ is a congenital disorder characterized by craniosynostosis and @PHENOTYPICFEATURE$.	false
+c2b8a6d66c018ca3becd1005ab2d99137dde493f	@DISEASE$ (AS) is characterized by craniosynostosis, midfacial hypoplasia, and bony @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+856005728e657a2e8ce4981e0cedc01ea098c37c	The @DISEASE$ hand demonstrates many typical clinical features including @PHENOTYPICFEATURE$, symbrachyphalangism, and growth disturbances.	false
+eb5aa44ff6c424c4d5ca178c225b796a361b32ef	A 68-year-old male, from an endemic region of @DISEASE$, presented with an inaugural Remitting Seronegative Symmetrical Synovitis with Pitting @PHENOTYPICFEATURE$ like syndrome, more that 20?years after travelling to Leprosy endemic areas.	false
+b15ad1a9b78d98b02ce9bd8e78667bb5ddf27022	Macular and optic disc @PHENOTYPICFEATURE$ and retinal vascular leakage in @DISEASE$ with a transthyretin Val30Met mutation: a case report.	false
+b233528fbf483bd374893b917afe0e7febd31c50	There were no significant differences in the objective sleep parameters including sleep efficiency, sleep onset latency, wake time after sleep onset, REM latency, percentage of time spent in N1, N2, N3, and REM sleep, arousal index, @PHENOTYPICFEATURE$-hypopnea index, or periodic leg movement index in @DISEASE$ patients as compared with healthy control subjects.	false
+40ee21095bc594a01b28f228eb57539f10148529	OBJECTIVE To present a case of a patient with clinical and radiological features of reexpansion @PHENOTYPICFEATURE$, a rare and @DISEASE$ fatal disease.	false
+3f2c7a9e7b2a08126d7a5b8201b38a2845b346c8	There were 1 or 2 cases of each of the following benign to intermediate malignant @DISEASE$ lesions: histoplasmosis nodules, chondroid @PHENOTYPICFEATURE$, pulmonary chondroma, and inflammatory myofibroblastic tumor.	false
+3e88b0f6963f5ec7dd39a631e164d535b8e4d975	Although clear cell renal cell carcinoma is unequivocally the most common adult renal tumor, there is growing evidence that some "clear cell" @PHENOTYPICFEATURE$, such as exemplified by multilocular cystic clear cell renal neoplasm of low malignant potential (formerly multilocular cystic renal cell carcinoma), do not have the same potential for insidious progression and metastasis, warranting reclassification as low malignant @DISEASE$ tumors or benign neoplasms.	false
+c0fcec86164aa00f4742567b86cc057023141293	Although clear cell renal cell carcinoma is unequivocally the most common adult @PHENOTYPICFEATURE$, there is growing evidence that some "clear cell" renal neoplasms, such as exemplified by multilocular cystic clear cell renal neoplasm of low malignant potential (formerly multilocular cystic renal cell carcinoma), do not have the same potential for insidious progression and metastasis, warranting reclassification as low malignant @DISEASE$ tumors or benign neoplasms.	false
+fc0d8bfb3d550c8b9f3f7a049cfa8f6921ad0361	@PHENOTYPICFEATURE$ fluid contains @DISEASE$ mediators that may contribute to the severity and chronicity of the lung injury.	false
+2579000579da39f5e65518e6bf9bb0830796e11e	In this review, we will focus on delayed onset @PHENOTYPICFEATURE$ (DOPE); the incidence and duration of @DISEASE$ delay.	false
+aa2f490ef5aa4f04c2be5d62ec8d8cc12b33f261	Radiotherapy for the prevention of @PHENOTYPICFEATURE$ appearing at the sites of aspiration, needle biopsies, chest drains or surgical incisions is the only treatment currently recommended for @DISEASE$.	false
+ee4da0dc57d6e90f830f92a840ee8ed9fdbb60d3	@DISEASE$, first described in 1984, is a progressive infantile familial encephalopathy featuring cerebral calcifications, mainly of the basal ganglia, @PHENOTYPICFEATURE$ and cerebrospinal fluid lymphocytosis.	false
+b597f63d451ff620fa9069ebb5d244079fd53a71	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f32f05a69fd1bcd086ecec557b6f4fe7689379e8	Familial @DISEASE$ complicated with unconjugated hyperbilirubinemia and @PHENOTYPICFEATURE$.	false
+db90d8dd767392e84633eae741612c98dffec670	Some neurological accompaniments of ANNA-2 may reflect potentially pathogenic humoral or cell-mediated responses to coimmunogenic tumor antigens, for example, @DISEASE$ (P/Q-type Ca(2+) channel antibody) and @PHENOTYPICFEATURE$ (ANNA-1 effector T cells).	false
+113eea5364ef2da66587a3e9d43da102f62f0ea1	Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, @PHENOTYPICFEATURE$, cranial neuropathy, movement disorder, encephalopathy, @DISEASE$, and seizures.	false
+df4ac634f4342a83a3a6df4af8b9e517ea78fe63	This article discusses @DISEASE$, motor neuron disorders, @PHENOTYPICFEATURE$, and disorders of continuous muscle fiber activity, such as Stiffman syndrome.	false
+6487017be992aff66438b018d70fc766cf3f4daa	No evidence of encephalitis, motor neurone disease, myelopathy, @DISEASE$, myositis and drug-induced @PHENOTYPICFEATURE$ was found in this study.	false
+f4a084229ecbcbbc55df5ff221e28eb18a2dfff6	We present the neuropathological data of a 49-year-old patient with a history of @DISEASE$: The main features were arteriosclerosis of the small intracerebral arteries, @PHENOTYPICFEATURE$ and vascular myelopathy.	false
+1e9cfed63585855138eee814699e16ab65d9ed6f	Waardenburg syndrome (@DISEASE$) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration.	false
+634c4c2522dbfb4858151e77922c6fd55a4399a5	The tibial hemimelia is usually described with preaxial mirror @PHENOTYPICFEATURE$, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (@DISEASE$) and micromelia-trigonal brachycephaly syndrome.	false
+f1fec8adfb625827b892e0cc543653d6bdcd1bcc	The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, @PHENOTYPICFEATURE$-triphalangeal thumb syndrome (@DISEASE$) and micromelia-trigonal brachycephaly syndrome.	false
+c8caabc2a8f7e6b2ea80fbacc2edb1505cc20364	@PHENOTYPICFEATURE$ in hippocampal-dependent tasks in @DISEASE$ mouse model.	false
+ac8742fa1e3b71ccf37012ad188ed9ea100d52f5	Low levels of t-PA and increased levels of PAI-1 have been found in states of special risk of thrombosis: @PHENOTYPICFEATURE$, diabetes mellitus, postoperative states, rheumatoid arthritis, malignancies and other diseases such as @DISEASE$.	false
+1c06ed942083f40e6c2ee07cf339f83a4ccb0c65	[Papillary @PHENOTYPICFEATURE$ in @DISEASE$].	false
+d868f3e1c904bd9411c1efae95b9568d0c4d295b	We present a female infant with multiple joint dislocations, flat facies, @DISEASE$, redundant neck skin, pulmonary hypoplasia, and @PHENOTYPICFEATURE$.	false
+81663269582bb6dd9251af64f193450e3937ddda	The present observation emphasizes the possible role of DAT imaging studies in the investigation of the pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+aac38917644947a3a7b5664b5fa30a718c35d5a6	In this review, we report the principal @PHENOTYPICFEATURE$ associated with @DISEASE$ and evaluate their correlations with neuroradiological and neuropathological findings that could in fact suggest a basal ganglia dysfunction.	false
+cc37ec317031b6f89dab6b08320cf2e72a1e9b19	@DISEASE$ is an important consideration in patients with rapidly progressive unilateral cerebral signs associated with a @PHENOTYPICFEATURE$.	false
+2bbe00e3e6bc65540dea1fb4dcec97fd39885182	Characterization of @PHENOTYPICFEATURE$ in patients with familial @DISEASE$ carrying the E200K mutation.	false
+87861d272f7a6c10b5abcb23b814b14c67c4b46d	A detailed neurological examination, with special emphasis on @PHENOTYPICFEATURE$ and extrapyramidal signs, was conducted in 43 consecutive symptomatic @DISEASE$ patients (26 males and 17 females; mean age 58.7 +/- 8.9 yrs, range 43-77 years) carrying the E200K mutation in the PRNPgene.	false
+af770ec666758aa0b5879da3e17369b491fc7eaa	Creutzfeldt-Jakob disease (@DISEASE$) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other @PHENOTYPICFEATURE$.	false
+0185b13c01c671589fd04068c5c8bd7a0e2870a4	@DISEASE$ (CJD) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other @PHENOTYPICFEATURE$.	false
+2f0a93fb6167bb70658ac3b76e80d01a6941fcb8	Usually, peripheral infection such as oral(Kuru) or parenteral (human pituitary hormones) transmission causes cerebellar degenerative form, and @PHENOTYPICFEATURE$ such as neurosurgical treatment, dura mater grafts or corneal grafts transmission causes clinical features similar to sporadic form of Creutzfeldt-Jakob disease (@DISEASE$).	false
+aeb93167f516b1e54f57daeedb40be01c21302cd	Usually, peripheral infection such as oral(Kuru) or parenteral (human pituitary hormones) transmission causes cerebellar degenerative form, and @PHENOTYPICFEATURE$ such as neurosurgical treatment, dura mater grafts or corneal grafts transmission causes clinical features similar to sporadic form of @DISEASE$ (CJD).	false
+107faa83e28646746d097c002faab572dd6be041	Coexistence of @PHENOTYPICFEATURE$ and epilepsia partialis continua as the initial signs in probable @DISEASE$.	false
+74855048cb35aceba9520f218bd752bfb9a6bda2	Rare, transmissible, and rapidly progressive, @DISEASE$ (CJD) is an ultimately fatal @PHENOTYPICFEATURE$ caused by accumulation of abnormally shaped prion proteins in neurons (see Understanding prion proteins).	false
+c131228cd4863382d66a9e5cc19bd466fb27b9fe	Rare, transmissible, and rapidly progressive, Creutzfeldt-Jakob disease (@DISEASE$) is an ultimately fatal @PHENOTYPICFEATURE$ caused by accumulation of abnormally shaped prion proteins in neurons (see Understanding prion proteins).	false
+b5459a5d8fe8526a85542ef5e0bbcc1cedf5ec8e	This case demonstrates that @DISEASE$ should be taken into account in rapidly progressing atypical cases of parkinsonism, even when functional imaging supports a diagnosis of a @PHENOTYPICFEATURE$.	false
+1a2c99308bbc24160b42719e6c701f547b45a125	The patient, a 19-year-old woman, has a multiple congenital anomaly syndrome with severe developmental and @PHENOTYPICFEATURE$, muscular hypotonia, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and @DISEASE$.	false
+1553c32a57b2d75af1c7dc9088177cda81907c1f	@DISEASE$ with double compartment @PHENOTYPICFEATURE$.	false
+da495f0a936129a12fb6e1b938fbcdf5fa7a5d0b	Pregnancy was terminated at week 21; autopsy of the fetus revealed bilateral @PHENOTYPICFEATURE$, brain microcalcifications and @DISEASE$.	false
+19380859ed119f8e0f919a68130abb99bbea22da	Clinical correlation between AF onset/burden and progression of cardiomyopathy/@PHENOTYPICFEATURE$ symptoms provides strong evidence for the diagnosis of @DISEASE$.	false
+c004257b6455351717f0d9abb799117e6ddbefdd	In patients with coronary history of @DISEASE$ or @PHENOTYPICFEATURE$, hormonal neoadjuvant therapy increased cardiovascular mortality rates (HR: 1.96, IC 95%: 1.04-3.71;	false
+9a48502ae424b82feefe3ad6a5c04570f6564ced	In further analysis, the gender specific independent predictors for unfavorable outcome were higher Graeb score (p = 0.04) or absolute monocyte count (@DISEASE$) (p = 0.04) in women, and lower Glasgow coma scale (GCS) score (p = 0.004) or acute @PHENOTYPICFEATURE$ (p = 0.04) in men.	false
+c0a05f5064e222168778911731fb5c62fd900dc9	Simultaneous cystourethroscopy was performed in 1 case to localize a @DISEASE$ @PHENOTYPICFEATURE$ during a partial cystectomy.	false
+e8a88919aa6d1acbd818a494a321216832734704	Lower urinary tract abnormalities were frequent (reflux, ureteral ectopia, bladder @DISEASE$ duplication, urachal remnants, urethral duplication), as were @PHENOTYPICFEATURE$ (uterine duplication, vaginal duplication, uterine atresia, vaginal atresia), abnormalities of the bony pelvis (partial sacral agenesis, pubic diastasis), and renal abnormalities (agenesis, obstruction, horseshoe kidney).	false
+b4185bb38972bb900da79d27536f6ec3f4d1194b	Vascular behavior of these @PHENOTYPICFEATURE$ is similar to the rest of non intra-@DISEASE$ neoplasms.	false
+d014e4303dd9e9583a39e20308d4bd55ca862010	The urinary @DISEASE$ (BD) secondary to benign prostatic hyperplasia (BPH) is a complication that can lead to urinary stasis, stone, urinary tract infection (UTI) and @PHENOTYPICFEATURE$.	false
+7f7d47cea471498c252e6a23e4797670d98ac6f7	We experienced a case of @DISEASE$ @PHENOTYPICFEATURE$ with intradiverticular hemorrhage in which preoperative diagnosis was difficult.	false
+7e900850e5382ff1647eb8b7e59d2ca10b859aa4	Indications for surgical treatment of @DISEASE$ include @PHENOTYPICFEATURE$, lower urinary tract symptoms refractory to medical treatment, renal dysfunction or recurrent urinary tract infections.	false
+616bb26e1c43c7693583a1c8133aad9c7595fc9a	Congenital @DISEASE$: an unusual presentation with abdominal mass, urinary retention, and @PHENOTYPICFEATURE$ in a young adult.	false
+d11f856a2b250fb958c1043da279a3258aab2496	A total of 14 patients (50%) had @PHENOTYPICFEATURE$, with @DISEASE$ as the predominant anomaly (10 of 23 patients, or 43.5%).	false
+5e55203e28238b5ddf8621784366c6ac778be0ff	Pyrexia of unknown origin in association with @DISEASE$ @PHENOTYPICFEATURE$.	false
+963f5b692dd41eb39c2903674926803d475ce352	This report implicates that although aggressive surgical approach is recommended in the majority of @DISEASE$ @PHENOTYPICFEATURE$, simple diverticulectomy may be indicated in selected, confined cases.	false
+2ea2b101e83ca9950ab77a9cab02a2894cb494bb	He complained of @DISEASE$ and left foot @PHENOTYPICFEATURE$.	false
+ad4c9f8a183f4da6e3a8bcdc4ebeba5527c6b7cc	We present a case of polycystic kidney disease and @DISEASE$ with rupture of a @PHENOTYPICFEATURE$.	false
+f64868b6fe306b314b7b41e52dd56f884b70e288	idiopathic thrombocytopenic purpura (ITP), Crohn's disease, @PHENOTYPICFEATURE$, dermatomyositis, scleroderma, Addison's disease and hyperemesis gravidarum, @DISEASE$.	false
+e6d42c838aa8eed2f558e3068528805dedef3f6a	At the end of the eighth month of pregnancy she had a @PHENOTYPICFEATURE$ and at the same time blood chemistry was indicative of @DISEASE$.	false
+f7d9fdf1c14bfe40defb45716d9526e30c9c6da4	Other causes are benign hepatic lesions (hemangioma, adenoma, focal nodular hyperplasia, nodular regenerative hyperplasia, biliary cystadenoma and angiomyelolipoma), malignant hepatic tumours (angiosarcoma, haemangioendothelioma, hepatoblastoma and rhabdoid sarcoma), peliosis hepatis, amyloid, @PHENOTYPICFEATURE$, polyarteritis nodosa, @DISEASE$ and acute fatty liver of pregnancy.	false
+97578ffcd689f249f5beceb9cd4c95755b53d408	[Postpartum rupture of a kidney cyst in familial @PHENOTYPICFEATURE$ degeneration and @DISEASE$].	false
+3e6c8dbef0c414ff67e9e293b73988fc73cfebaa	Clinical course of patients with chronic systolic heart failure due to the association of @DISEASE$ and systemic arterial @PHENOTYPICFEATURE$.	false
+720cc0692cb265217a9183fcc332b16353be9816	Evaluation of the six-minute walk test in patients with chronic heart failure associated with @DISEASE$ and systemic arterial @PHENOTYPICFEATURE$.	false
+f2ef0b95e0c7cd4dfaef629deb0692f0b7fd2830	Seventy-one chronic @DISEASE$ heart failure patients and 68 patients with @PHENOTYPICFEATURE$ cardiomyopathy heart failure were used in the comparison of QTc interval dispersion.	false
+d98501e472e23205d1a3ab1666ad590775f66c95	Prognosis of patients with chronic systolic heart failure: @DISEASE$ versus systemic arterial @PHENOTYPICFEATURE$.	false
+1d54bbce9611ef7ea4b4ae4c29057715d419c97c	The heart failure etiologies were: @PHENOTYPICFEATURE$ heart disease (78 patients, 27.1%); idiopathic dilated cardiomyopathy (73 patients, 25.4%); ischemic cardiomyopathy (65 patients, 22.6%); @DISEASE$ (42 patients, 14.6%); alcoholic cardiomyopathy (9 patients, 3.1%); peripartum cardiomyopathy (6 patients, 2.1%); valvular heart disease (2 patients, 4.2%) and viral myocarditis (3 patients, 1.04%).	false
+17b5de711b2184d38a185a200a7dd77dd215cb28	The cases were selected from necropsies performed in the Department of Pathological Anatomy of Hospital e Maternidade Celso Pierr? of Pontif?cia Universidade Cat?lica de Campinas and divided into three groups: CH + SH group, of patients with Chagas disease plus @PHENOTYPICFEATURE$; CH group, of patients with Chagas disease without hypertension; and SH group, of patients with hypertension without @DISEASE$.	false
+bba0f25bd946fe5eb60b3a366c3943761060d7c4	The cases were selected from necropsies performed in the Department of Pathological Anatomy of Hospital e Maternidade Celso Pierr? of Pontif?cia Universidade Cat?lica de Campinas and divided into three groups: CH + SH group, of patients with @DISEASE$ plus @PHENOTYPICFEATURE$; CH group, of patients with Chagas disease without hypertension; and SH group, of patients with hypertension without Chagas disease.	false
+3bdc8f68de51fa6adcfb88ec016ab5ea1b58340c	The cases were selected from necropsies performed in the Department of Pathological Anatomy of Hospital e Maternidade Celso Pierr? of Pontif?cia Universidade Cat?lica de Campinas and divided into three groups: CH + SH group, of patients with Chagas disease plus @PHENOTYPICFEATURE$; CH group, of patients with @DISEASE$ without hypertension; and SH group, of patients with hypertension without Chagas disease.	false
+2e3c8aa303fdf274c6d5802ce6260ad5b372b5d3	To evaluate physical capacity as determined by the six-minute walk test (6MWT) in patients with chronic heart failure due to @DISEASE$ associated with systemic arterial @PHENOTYPICFEATURE$ (Chagas-SAH).	false
+0ccbadc714ac6d1ac758b4bf94b19081c24fd9e4	Of those patients with @DISEASE$ and arterial @PHENOTYPICFEATURE$, 41% were blacks and 35% were caucasians.	false
+f3f5de4b9283f2885a0bde7821dfa9b8dbdff50a	Adult Protective Services (@DISEASE$) are involved with needs of older adults who have @PHENOTYPICFEATURE$ and mental illness.	false
+b78fced6e0b0c19bec8fb260e5b89344dd120fb2	However, other neurological manifestations, including @PHENOTYPICFEATURE$ in particular, have been repeatedly reported in @DISEASE$ patients.	false
+d0c6dfa7278d8f0315a7070c101d596a79212706	The second one developed a primary APS with a Sneddon syndrome, while the third case is a neurolupus-associated @DISEASE$ with subacute @PHENOTYPICFEATURE$, chorea, stroke, and epilepsy.	false
+4d2e0cfff2e5fe048f325e18fa0288083fddfe0b	The second one developed a primary @DISEASE$ with a Sneddon syndrome, while the third case is a neurolupus-associated APS with subacute @PHENOTYPICFEATURE$, chorea, stroke, and epilepsy.	false
+ac8ae13596ca5080401387602371612eda8cee63	It must be distinguished from @DISEASE$ dystrophy, a rare form of @PHENOTYPICFEATURE$.	false
+0345384853e885e20a637001cc2c59a87f46c6ca	To compare evoked potential studies in @DISEASE$ patients and patients with multiple sclerosis with similar neurological @PHENOTYPICFEATURE$.	false
+e7ec957cd3ef1a403b02ccf4b19afac75668fc83	@DISEASE$ patients had significant complex hand movement @PHENOTYPICFEATURE$ with reduced amplitude and frequency in combination with increased motion variability in all movement tasks.	false
+85fbf4715cd6c93bfd7321663379defdf9a9b9b1	@PHENOTYPICFEATURE$ and myoclonus were encountered at a lower prevalence in @DISEASE$ kindreds.	false
+bdaca812a7fb5fdc13d0c4da523bb4895b2c5fe5	Arterial thrombosis by @DISEASE$ might cause @PHENOTYPICFEATURE$ and myocardial infarction.	false
+6e867fdb136b011465606123ddccbabe1d7b492c	Moreover, in @DISEASE$ patients, anti-G-?2 GPI titre was associated significantly with venous thrombosis and @PHENOTYPICFEATURE$ in APS patients.	false
+c2daac08ec7236cca2e7738495e2d5a05c77259f	Moreover, in APS patients, anti-G-?2 GPI titre was associated significantly with venous thrombosis and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+73b9d444b7d4c9b46d75da803e57787f0c8e4b26	Epilepsy due to @DISEASE$ should be considered in young patients presenting with @PHENOTYPICFEATURE$ of unknown origin.	false
+d628bbbfda34273952d587adbd920a78503a37cf	Velocardiofacial syndrome (VCFS, or @DISEASE$) is the most common syndrome associated with @PHENOTYPICFEATURE$ and is characterized by the following major features: cleft palate, cardiac anomalies, typical facies, and learning disabilities.	false
+4ca53ca09f17b411eec5daa0608bc8413bb20c6d	@DISEASE$ (VCFS, or Shprintzen syndrome) is the most common syndrome associated with @PHENOTYPICFEATURE$ and is characterized by the following major features: cleft palate, cardiac anomalies, typical facies, and learning disabilities.	false
+73dc322aed7804e850cceabbdb0caed75b5e4c20	Pachygyria and @PHENOTYPICFEATURE$ in Goldberg-@DISEASE$.	false
+18831f820ea878e6792cb7601e8b32be0415bba3	The deletion of a gene or genes on chromosome 22q11 is responsible for the @DISEASE$ (VCFS), which is associated with cardiac anomalies, short stature, @PHENOTYPICFEATURE$, learning disabilities, and developmental delay.	false
+bff2dd1fecf89fc83c5a3964dfb84ea18a8b7e0e	Generalized @PHENOTYPICFEATURE$ in mother and daughter with @DISEASE$.	false
+9dca26c287602d4f9aee222a9ac8ad3fb6ccce05	A number of diseases of the white matter can present as schizophrenia-like psychoses, including leukodystrophies, @PHENOTYPICFEATURE$, @DISEASE$, callosal anomalies and inflammatory diseases.	false
+b24160db788016007b781b9297da0848f9ca8046	We encountered a Japanese boy presenting with an unusually severe phenotype of @DISEASE$, including progressive @PHENOTYPICFEATURE$ and severe intellectual disabilities.	false
+8da9ed099f196b150f09f5c28a1f8e01c25a270a	Cases had a similar frequency of Down syndrome, and DiGeorge/@DISEASE$, but a higher frequency of anorectal malformations (4.3% vs 2.4%, P?<?.001) and @PHENOTYPICFEATURE$ (27.4% vs 9.9%, P?<?.001) than controls.	false
+a6ccab3bdd7350cbb68a79daa60958abc5d4a72e	Juvenile @PHENOTYPICFEATURE$ epilepsy with photosensitivity in a female with @DISEASE$ (del(22)(q11.2))--causal	false
+5d37e459bfea350105dd41d08f1266305056c201	This observation confirms the previous finding of @PHENOTYPICFEATURE$ in @DISEASE$, and suggests an overlap between the VCFS and 3C syndrome.	false
+38e4b103da2aaf90237f4c9960435ec3f3c997a0	2) The @DISEASE$ was described in 1978 by stomatologists, and associates @PHENOTYPICFEATURE$, cardiac malformations, dysmorphic faces, and learning disabilities.	false
+99b4c71c280e6dfb4ff2e50fe31acedbfe12cc81	The clinical spectrum of ASD includes @PHENOTYPICFEATURE$, @DISEASE$ Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS).	false
+5f7224995aad8da3d373c5de5445ea1c49aaf559	Autism spectrum disorders (ASD), comprising classic @PHENOTYPICFEATURE$, Asperger syndrome, Rett syndrome, @DISEASE$ and pervasive development disorder-not otherwise specified, represent complex neurodevelopmental conditions characterised by impaired social interactions, difficulties with communication and repetitive, stereotyped behaviours.	false
+92865b71c985719ec74e3b647fca4da067510e87	The diagnostic category pervasive developmental disorders (PDDs) refer to a group of five disorders: @PHENOTYPICFEATURE$, Rett syndrome, @DISEASE$, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS).	false
+40f003ede6df34373a9534d64bd9e8d00101842e	[Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of @DISEASE$, early onset schizophrenia and late onset @PHENOTYPICFEATURE$].	false
+a71afe904c8f60e065f645f4c5587344c6239337	The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical @PHENOTYPICFEATURE$, Rett syndrome and @DISEASE$ (CDD).	false
+26857e6a5ba1c03c19bf7eb56dc03463a64b3fe5	High incidence of advanced colorectal @PHENOTYPICFEATURE$ during endoscopic surveillance in @DISEASE$ syndrome.	false
+ab89176f620d51c4ecf060152db80a997c6b4e61	@DISEASE$: rapid and relentless development of colorectal @PHENOTYPICFEATURE$.	false
+b7e5a923be79e79100b4180f328cb0dc6c391517	While no biallelic mutation carriers were identified in patients with personal and/or family history of multiple @PHENOTYPICFEATURE$ types or with @DISEASE$, one was identified among the 488 nonpolyposis CRC patients.	false
+6a8c8f2665ca8e870cf1035ab578e20e09baa1b5	The aim of our study is to elucidate the role of NTHL1 in the predisposition to personal or familial history of multiple @PHENOTYPICFEATURE$ types, familial/early-onset nonpolyposis CRC, and @DISEASE$.	false
+d787c243ba8422d7d1e82ee65d6d9cd98e8aa93f	High prevalence of advanced colorectal @PHENOTYPICFEATURE$ and @DISEASE$ syndrome in Hodgkin lymphoma survivors.	false
+2751aa51e00f8d69dd33c68e9695f7cf3521615f	Although extracolonic @PHENOTYPICFEATURE$ were common in our cohort, it is still unclear whether these are associated with @DISEASE$.	false
+b7975bca30c64ed06ee8d2487699300c6f1faee3	In addition, SSPs, whether sporadic or as part of the @DISEASE$ syndrome, are associated with increased risk of synchronous and metachronous @PHENOTYPICFEATURE$.	false
+918e83352d4b77bae10a29b583d9fd2db331033b	[French comment on article High incidence of advanced colorectal @PHENOTYPICFEATURE$ during endoscopic surveillance in @DISEASE$ syndrome].	false
+181150c7d57c58cc824f51c0a4acfbf629c0456b	No association was found between colorectal cancer diagnosis and sex, age at @DISEASE$ diagnosis, extracolonic @PHENOTYPICFEATURE$, history of adenoma, or smoking status.	false
+2c3dce3ce97d7d16df8ad48cef99d263ebcbf2a1	Incidence of colonic @PHENOTYPICFEATURE$ in patients with @DISEASE$ syndrome who undergo annual endoscopic surveillance.	false
+6f1675fa7d570940a03ac8e95125e07b52907a46	Laboratory examinations and @PHENOTYPICFEATURE$ markers were within normal limits, except for @DISEASE$.	false
+6e378d9b3386067ab076a10a2e3b5b5d5044df68	However, prolonged GC therapy may cause numerous adverse effects leading to diabetes and obesity, as well as bone disorders such as @DISEASE$ in adults and @PHENOTYPICFEATURE$ in children and adolescents.	false
+9a4872e4858363112ad1b91cac76bb6beb49b008	However, prolonged GC therapy may cause numerous adverse effects leading to diabetes and @PHENOTYPICFEATURE$, as well as bone disorders such as @DISEASE$ in adults and growth retardation in children and adolescents.	false
+2fdc61a76fbac36f33f00248760a26c3190bb5b9	Further significant clinical features including cardiovascular disease, @PHENOTYPICFEATURE$, liver involvement, autoimmune diseases, hearing loss, and @DISEASE$ were only marginally if at all considered.	false
+2023ee3ae373375c6818ae57c54391d418c71b17	Depletion of macrophages led to early skeletal @PHENOTYPICFEATURE$ and progressive @DISEASE$.	false
+b305f287f7e782341c3f317f1bca4d7dda795775	Given at 4 times the teriparatide dose in a human @DISEASE$ trial, abaloparatide @PHENOTYPICFEATURE$ more than teriparatide, and both reduced fracture risk.	false
+ed27c851be3e4f70212a1a62cd451c25c72be3d4	However, long-term corticosteroid use is associated with serious complications such as @DISEASE$, diabetes, and @PHENOTYPICFEATURE$.	false
+8291febb50231903d60684cef0ad3c57bd16dad2	Fibrogenesis imperfecta ossium is a rare disorder of bone usually characterized by marked osteopenia and associated with variable @DISEASE$ and @PHENOTYPICFEATURE$, changing over time.	false
+379ccfedf00b21280e642a18a7144929e29ac62e	@PHENOTYPICFEATURE$ and @DISEASE$ in juvenile chronic arthritis.	false
+d7d22a5b4ffa8306b8fd6bfdc4ec97625b96e6b7	Low-weight patients are at high risk for osteopenia/@DISEASE$. Nutritional abnormalities are also common, including sodium depletion and hypovolemia, hypophosphatemia and @PHENOTYPICFEATURE$.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+d1e577f1aff1822738b7c4ecbd0ac197e1765582	Final height, weight, previous treatments with growth hormone, cardiac or @PHENOTYPICFEATURE$, metabolic profile, and additional treatment for @DISEASE$.	false
+b82af033a92de2c262736f22fefd429e17ba15a9	@DISEASE$ represents a state of acute adrenocortical insufficiency and occurs in patient with Addison's disease who are exposed to stress of infection, surgery, trauma, @PHENOTYPICFEATURE$ and diarrhea.	false
+dab072a4b64d67428ecfb24f169c52799ac42948	Addisonian crisis represents a state of @DISEASE$ and occurs in patient with Addison's disease who are exposed to stress of infection, surgery, trauma, @PHENOTYPICFEATURE$ and diarrhea.	false
+173dcac119944c9b9599ff755c32691507f35198	@DISEASE$ is a medical emergency with acute symptoms: nausea, @PHENOTYPICFEATURE$, abdominal pain, fever, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	false
+14c052be472da84dccfdeb63a23fcaa2d570ee96	We present a 50-year-old immunocompetent woman who presented with one-month history of coughing with expectoration who was subsequently diagnosed with bilateral upper lobe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0ca4ff0c703616a11428e3e2be782c81754d11fb	Furthermore, among patients with @PHENOTYPICFEATURE$ aged younger than 50 yrs, those treated with sex hormone (5/51: 10%) suffered less frequently from @DISEASE$ than those untreated (7/11: 64%, p = 0.0004).	false
+e79be8cd01480bd0ba8d6a8e69d3b1450b10d9be	These results provide a basis for the dominant heredo-otoophthalmo-encephalopathy (HOOE)/@DISEASE$ syndrome and indicate that ADan peptides are more potent than A?peptides in inflicting @PHENOTYPICFEATURE$.	false
+f91caa047a0045d7d50fbb7d1edc8b2456187658	Familial Danish dementia (@DISEASE$) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of @PHENOTYPICFEATURE$, hearing impairment, cerebellar ataxia and dementia.	false
+b040e189eb4d728086f47e03e73ca7013e3aade6	Familial Danish dementia (@DISEASE$), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, deafness, progressive ataxia, and dementia.	false
+bcda3ccc0e63125439031fc9e9e5fe073400a7df	The rates of steroid-dependency was 37.0% (97/262) in 262 patients with a history of steroid use and the rate of thiopurines ineffectiveness was 26.9% (79/294) in 294 patients with a history of thiopurines-use; (2) Univariate analysis showed that disease location (L3 type), abdominal pain, diarrhea, @PHENOTYPICFEATURE$, abdominal tenderness, perianal lesion, steroid use, AZA/6-MP use, leucocyte, hemoglobin (Hb), platelet level and high-sensitivity C-reactive protein (HsCRP) were significantly different between refractory and non-@DISEASE$ patients (all P < 0.05) .	false
+cfdcc96fc7cdfb344d9890d345cd3cedc7922ce1	Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as @DISEASE$, acquired disease of the caudal brainstem or the cerebellum, @PHENOTYPICFEATURE$, or loss of vision resulting from cataract or vitreous hemorrhage.	false
+7451f48c60e1aa916de038f5b2d12ce67c72dfe8	@DISEASE$ (A-T) is a @PHENOTYPICFEATURE$ disorder, with onset in early childhood and a frequency of approximately 1 in 40,000 births in the United States.	false
+bc20bc5ecc8b611c5b8c91b550b463dd644e6af3	Abnormal proportions (higher or lower than an interval containing 95% of our normal values) of Fc-IgA receptor-bearing T cells (TA) were found in common variable immunodeficiency, systemic lupus @PHENOTYPICFEATURE$, @DISEASE$, and selective IgA deficiency.	false
+25cb6222a5c432496a854929ecaccb1cfca0a4fa	@DISEASE$ (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous @PHENOTYPICFEATURE$, and immunodeficiency.	false
+3a290ec4d7f9c348a9448687fbf133fde388e50b	@PHENOTYPICFEATURE$ in Group A xeroderma pigmentosum resembles that of patients with @DISEASE$ who are known to have a defect in the repair mechanisms of their DNA in cultured skin fibroblasts.	false
+3310f9967cb572033749543e3e8a77d879e5e560	Sera from 10 of 25 unselected patients with ataxia, 1 of 30 patients with @PHENOTYPICFEATURE$, 1 of 50 multiple sclerosis patients, 0 of 20 amyotrophic lateral sclerosis, 0 of 10 children with postviral ataxia, 0 of 10 systemic lupus erythematosus patients, 0 of 3 patients with hereditary cerebellar ataxia, 0 of 8 with @DISEASE$, and 0 of 30 age- and gender-matched controls immunoprecipitated the recombinant MPP1 protein.	false
+2baa6e01901f78219b74dd5a26d5ed1c86d4aba1	@DISEASE$ (AT) is characterized by @PHENOTYPICFEATURE$, immunodeficiency, spontaneous chromosomal instability, hypersensitivity to ionizing radiation, predisposition to cancer, particularly T cell leukaemia and lymphoma, and premature ageing.	false
+f817adb499c08650a12db257087ff081900b3a36	A subgroup of patients with FAP who develop fewer @PHENOTYPICFEATURE$ at an older age have what is called @DISEASE$ (AFAP).	false
+e589add252705666bf1e2ddf4e5412a4f3f972d9	A subgroup of patients with FAP who develop fewer @PHENOTYPICFEATURE$ at an older age have what is called attenuated FAP (@DISEASE$).	false
+cdb2ec80953b96082df74db1d81716f68dce2733	We compared the patterns of somatic APC mutations in @PHENOTYPICFEATURE$ from patients with attenuated familial adenomatous polyposis (@DISEASE$) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations.	false
+7522c14e0490c76c4e3bcee610ed7f60829e6aeb	We compared the patterns of somatic APC mutations in @PHENOTYPICFEATURE$ from patients with @DISEASE$ (AFAP) who did, or did not, coinherit p.Glu1317Gln with their AFAP-causing APC mutations.	false
+d88d802af768511adc18c3a8463f978a12c1d313	Germ-line mutations of the @PHENOTYPICFEATURE$ suppressor APC are implicated in @DISEASE$ (AAPC), a variant of familial adenomatous polyposis (FAP).	false
+c650904232b3d88b687511b5464976e4a6e60b36	Germ-line mutations of the @PHENOTYPICFEATURE$ suppressor APC are implicated in attenuated adenomatous polyposis coli (@DISEASE$), a variant of familial adenomatous polyposis (FAP).	false
+b2b2f2d593c48cda965be001f00636bddc590070	A subset of germline APC mutations results in an attenuated FAP (@DISEASE$) phenotype, in which patients develop fewer @PHENOTYPICFEATURE$ and develop them at an older age.	false
+aaf8673707b3e588fb33da6c43529f7beb76cf92	A subset of germline APC mutations results in an @DISEASE$ (AFAP) phenotype, in which patients develop fewer @PHENOTYPICFEATURE$ and develop them at an older age.	false
+7a482b20e83e80ca421deec04e60c321424b2e78	This case report suggests that @DISEASE$ should be included in the differential diagnosis of patients with ampullary/duodenal @PHENOTYPICFEATURE$.	false
+552f7db24980f6ccd811809e8b8607caa4c7b3b9	@DISEASE$ variants are less typical and may be confused with other types of familial colorectal @PHENOTYPICFEATURE$.	false
+9a975734d56c484fda05198eca79f4761173e8b5	Significant increases were observed in incidence of leukaemia (average annual percent change AAPC: 0.7%), acute lymphoblastic leukaemia (@DISEASE$: 1.9%), and all cancer groups (AAPC: 2.6%), but not in acute non-lymphocytic leukaemia or in CNS @PHENOTYPICFEATURE$.	false
+33970bda4d31d848f860fc6a2e1515dddf267219	Significant increases were observed in incidence of leukaemia (average annual percent change AAPC: 0.7%), acute lymphoblastic leukaemia (AAPC: 1.9%), and all cancer groups (@DISEASE$: 2.6%), but not in acute non-lymphocytic leukaemia or in CNS @PHENOTYPICFEATURE$.	false
+4950c4bb2d21b9cbdfd0f362306ffe53fb1507cd	Female patients and papillary carcinoma showed significant increase in incidence (@DISEASE$ 3.3% and 3.2%), whereas male patients and other histopathological @PHENOTYPICFEATURE$ types showed no change.	false
+84de4f9a416c737c5e30f0df603dac056df39d24	We analysed somatic APC mutations/loss of heterozygosity (LOH) in 235 @PHENOTYPICFEATURE$ from 35 patients (16 families) with a variety of @DISEASE$ associated germline mutations.	false
+45ea221b1d517da14164d7611d8a106bcda5671d	Some truncating mutations of the APC @PHENOTYPICFEATURE$ suppressor gene are associated with an attenuated phenotype of familial adenomatous polyposis coli (@DISEASE$).	false
+816bc9cf9ccee59719583272a8834368a4d8a1df	Results achieved in eyes following a single surgeon's first 200 procedures consisting of intracapsular cataract extraction and implantation of a Choyce-@DISEASE$ anterior chamber lens (AC-IOL) (1977 to 1980) are compared with those achieved following the same surgeon's first 200 procedures consisting of extracapsular @PHENOTYPICFEATURE$ extraction and implantation of a posterior chamber intraocular lens (PC-IOL) (1980 to 1982).	false
+537e24713ec0affcff86049f9adc2188e845baf1	Results achieved in eyes following a single surgeon's first 200 procedures consisting of intracapsular @PHENOTYPICFEATURE$ extraction and implantation of a Choyce-@DISEASE$ anterior chamber lens (AC-IOL) (1977 to 1980) are compared with those achieved following the same surgeon's first 200 procedures consisting of extracapsular cataract extraction and implantation of a posterior chamber intraocular lens (PC-IOL) (1980 to 1982).	false
+50afdd9685d8bc194b7303f408c5d71f700292a0	Those patients with @DISEASE$ might experience @PHENOTYPICFEATURE$ presurgically.	false
+ec7bfcf3e19ad2960fa0680f4fe05fb18943e48e	Idiopathic inflammation that involves the orbit (orbital pseudotumor) and that has systemic manifestations may mimic more serious conditions, such as metastases from rhabdomyosarcoma or @DISEASE$, chronic recurrent multifocal osteomyelitis (CRMO), and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis).	false
+9931a74f60c3b8d3cd890c58aa1e466da81575b3	They were @DISEASE$ (ES) (n = 4), primitive neuroectodermal tumor (PNET) (n = 3), Askin's tumor (n = 1), rhabdomyosarcoma (RMS) (n = 2), neuroblastoma (n = 2), osteochondroma (n = 1), aneurysmal bone cyst (n = 2) and @PHENOTYPICFEATURE$ (n = 2).	false
+6a8a10f695235ec7a270eb022123e74154948e48	We describe a child who had @PHENOTYPICFEATURE$ caused by severe mitral regurgitation after thoracic radiotherapy for a @DISEASE$.	false
+004cf5d53e01a6f0af581423dec31880e5543c80	However, the human diseases, Friedreich @PHENOTYPICFEATURE$, glutaredoxin 5-deficient sideroblastic anemia, @DISEASE$, and ABCB7 sideroblastic anemia/ataxia syndrome, affect specific tissues, while sparing others.	false
+96620a363cb97a01e6cce51356b045e08c9a738e	Although these diseases -which include Friedreich's @PHENOTYPICFEATURE$ (FRDA), @DISEASE$, a rare form of sideroblastic anemia, an encephalomyopathy caused by dysfunction of respiratory chain complex I and multiple mitochondrial dysfunctions syndrome - affect different tissues, a feature common to many of them is that mitochondrial iron overload develops as a secondary consequence of a defect in Fe-S cluster biogenesis.	false
+e0d37fbd3a38bc05b60f70b63e6879c0a48f0427	@DISEASE$: a new form of acute, reversible @PHENOTYPICFEATURE$.	false
+dff7e1494295cc7edaf0d751502e9496e27bc6b6	@DISEASE$, also known as takotsubo cardiomyopathy, is a rapidly reversible form of acute @PHENOTYPICFEATURE$ classically triggered by stressful events.	false
+a5a8ba0180d859b03369d72bacf7e24327b6430f	Stress cardiomyopathy, also known as @DISEASE$, is a rapidly reversible form of acute @PHENOTYPICFEATURE$ classically triggered by stressful events.	false
+fbb34968fa97e2d233904e9a2fe536a44352a58b	Twelve hours postoperatively, after demonstrating symptoms of acute @PHENOTYPICFEATURE$, she was diagnosed with @DISEASE$.	false
+acfe3a03dd69a6ad525a602cc3f401b8a968ac20	The present report describes a patient with @DISEASE$ and torsades de pointes induced by premature atrial contraction associated with QT interval prolongation, @PHENOTYPICFEATURE$ and hypomagnesemia.	false
+ea15336544c7970ed848ee66302d72caedec1b07	The present report describes a patient with @DISEASE$ and torsades de pointes induced by premature atrial contraction associated with QT interval prolongation, hypokalemia and @PHENOTYPICFEATURE$.	false
+6d58fa51e042f11f27c6909efc39fc7af3f29996	MEDLINE database search conducted from inception to August 2014, including the search terms "tako-tsubo," "stress-induced cardiomyopathy," "neurogenic @PHENOTYPICFEATURE$," "neurogenic @DISEASE$," and "transient left ventricular apical ballooning syndrome".	false
+c8d41e113346d6787f3f5343dc1fbfb7a67f97c6	@DISEASE$: an uncommon cause of reversible @PHENOTYPICFEATURE$.	false
+616195a6eaed593623802397c781e44ac0368fb4	TTS is also known as stress cardiomyopathy, @DISEASE$, apical ballooning, reversible acute @PHENOTYPICFEATURE$, neurogenic stunned myocardium or acute catecholamine cardiomyopathy.	false
+aa029b8db297f0d2e362eb89c87c168eb0c692bf	TTS is also known as @DISEASE$, broken heart syndrome, apical ballooning, reversible acute @PHENOTYPICFEATURE$, neurogenic stunned myocardium or acute catecholamine cardiomyopathy.	false
+9a2f0e6c6aa9fa2e92eeb70dc212b8fa34a775a4	@DISEASE$ (TTS), also known as takotsubo cardiomyopathy, is an acute @PHENOTYPICFEATURE$ syndrome that typically occurs after a period of great emotional stress.	false
+fafde8d14cbf970d9d0225b27ee65d22a7be98d7	Takotsubo syndrome (TTS), also known as @DISEASE$, is an acute @PHENOTYPICFEATURE$ syndrome that typically occurs after a period of great emotional stress.	false
+c54dfcfb87aad22435d0671b73a0840a559a0b58	@DISEASE$ (TS) is a life-threatening acute @PHENOTYPICFEATURE$ syndrome.	false
+af000296648e8da404aff637c5161dc9839a1946	@DISEASE$ is a newly described @PHENOTYPICFEATURE$ characterized by transient left ventricular dysfunction.	false
+aed14e880655cc8477523ad2d679307bfddda260	Common causes include transient tachypnea of the newborn, neonatal @PHENOTYPICFEATURE$, respiratory distress syndrome (RDS), and meconium aspiration syndrome (@DISEASE$).	false
+5ac646044245958dddc2b9b7616eb9a81c0a43f1	Common causes include transient tachypnea of the newborn, neonatal @PHENOTYPICFEATURE$, respiratory distress syndrome (RDS), and @DISEASE$ (MAS).	false
+3815b6ade4a41342f802c71ad70a083e04ee156b	@PHENOTYPICFEATURE$ @DISEASE$ Classification.	false
+7ecae9dc08609006bbec8922a41f5b72b4fc783b	At the time of diagnosis, the 5 patients who developed @DISEASE$ differed from the remaining 102 in the prevalence of @PHENOTYPICFEATURE$, and they showed increased systemic score values.	false
+457da503dacc9bb3482a0a8551b2b7d1968df6cd	With increasing experience, the benefits of minimally access surgery (@DISEASE$) are being applied to emergency indications such as evaluation of peritonitis and @PHENOTYPICFEATURE$, appendectomy, repair of perforated ulcers and other acute conditions.	false
+51b8c76c79eb5977d4724313adaf4b3ae902c76d	Aortorenal bypass with the saphenous vein was performed in 6 patients with renal @PHENOTYPICFEATURE$ and 1 patient with @DISEASE$.	false
+ce6b46da84cbf214dd89f6a260bf8d80c2f1c3e6	A 9-year-old boy presented with headaches and @PHENOTYPICFEATURE$ and was diagnosed with severe hypertension secondary to idiopathic @DISEASE$ affecting a long segment of the abdominal aorta and left renal artery stenosis.	false
+32916cc700b5518fb4d2e5ed5b4adf2223201a2f	We identified 412 cases without pulmonary diseases, 228 TTN cases, 358 respiratory distress syndrome (RDS) cases, 85 meconium aspiration syndrome (@DISEASE$) cases, 215 infectious @PHENOTYPICFEATURE$ cases, and 60 other cases.	false
+3995cda76e0f9af0ae16e96f15242641ee708e14	We identified 412 cases without pulmonary diseases, 228 TTN cases, 358 respiratory distress syndrome (RDS) cases, 85 @DISEASE$ (MAS) cases, 215 infectious @PHENOTYPICFEATURE$ cases, and 60 other cases.	false
+753f17e0964ab5dcf19eee4f9f9aa0f740cb7c4e	Nine patients had renal @PHENOTYPICFEATURE$, and 10 patients had midaortic syndrome (@DISEASE$).	false
+a3d70bf953b945d5025baa67f2de4b42edd4762b	The Sydney Memory and Ageing Study (Sydney @DISEASE$) was initiated in 2005 to examine the clinical characteristics and prevalence of mild @PHENOTYPICFEATURE$ (MCI) and related syndromes, and to determine the rate of change in cognitive function over time.	false
+221a72c32064bbc766dc5cf69fa26434f33c2298	@DISEASE$ is a disorder involving craniofacial @PHENOTYPICFEATURE$ retardation and mental retardation.	false
+8b6cbe41c8b352382cc4e033ebf7a955ff481dd4	To date, the genetic basis of @DISEASE$ (short stature, microcephaly, @PHENOTYPICFEATURE$, eczema) is unknown and vascular complications are not known to be associated with this syndrome.	false
+d5f516edb9696f02b9d0d1ab3e886a88937bde42	The @DISEASE$ is a growth deficiency syndrome characterized by @PHENOTYPICFEATURE$, characteristic face and delayed speech development.	false
+f11399be942089aad32f3d9ec780b06a3f72a287	@DISEASE$ is a rare syndrome with @PHENOTYPICFEATURE$ delayed bone age, typical facies and delay in expressive speech.	false
+1b1af1bb9bd13cc1aa42d95bf9137c93dbe3692d	@DISEASE$ is an autosomal dominant skin disorder characterised by erythema, @PHENOTYPICFEATURE$, and peeling of the skin of the palms and soles, especially during winter.	false
+5d952ac4d319df04eb1ad90e515e9263d9f582f7	Darier's disease, @PHENOTYPICFEATURE$, @DISEASE$, lamellar ichthyosis, 'badpak' ichthyosis, epidermolytic hyperkeratosis, the 'half-baby' syndrome, exfoliative dermatitis, hair dystrophy and selected precancerous conditions.	false
+b2c919d1910f32ec1881d286511ae9f29904a97f	We report a case of a newborn infant boy with @DISEASE$ who presented with @PHENOTYPICFEATURE$ on his fourth day of life.	false
+c5661fa7997c621b1b4391ba3fcfe4959792a1bd	Clarifying the relation between LCA and associated neurological abnormalities such as autism, @PHENOTYPICFEATURE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+3fa7310766e35bc31846f5e99e9d545884d2b11b	At the multivariable analysis, the variables significantly associated with 3- and 6-month survival were Glasgow Prognostic Score (@DISEASE$) and KPS, and GPS, KPS and @PHENOTYPICFEATURE$ spread, respectively.	false
+1cc8db11e6bb1c5ae45fbdcaf1e402462755f54a	At the multivariable analysis, the variables significantly associated with 3- and 6-month survival were Glasgow Prognostic Score (GPS) and KPS, and @DISEASE$, KPS and @PHENOTYPICFEATURE$ spread, respectively.	false
+6c217a475ff23441e7c7a291bf186bb1799d6ec5	We hereby describe the case of a 2-year-old girl who presented with @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$.	false
+aae4466a89afe7d2ecb78ce54db96328a6cc84b2	Genitopatellar syndrome (@DISEASE$) is a rare disorder in which patellar aplasia or hypoplasia is associated with external @PHENOTYPICFEATURE$ and severe intellectual disability.	false
+a5aaeae0981aa1cdb3b86d5de35f28c2f6ff270b	@DISEASE$ and @PHENOTYPICFEATURE$ markers were all assessed before chemotherapy.	false
+a9aa2fbd1471ac8a2cad1e0ff3accf6f93fbe422	Genitopatellar syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ with cerebral and genital anomalies for which the molecular basis has not yet been determined.	false
+29634b07256ecdceb25155d1ec12558bdc1b1e60	High levels of @DISEASE$ is associated with @PHENOTYPICFEATURE$ progression.	false
+d25313884193503d00c586a94f1e47a6c661add9	On multivariate analysis, the @PHENOTYPICFEATURE$ size, albumin level, and @DISEASE$ were independently associated with the outcome of HCC postoperatively.	false
+791a69b2df1eb1af43386c879b40e72fb4fb6c4a	Genitopatellar syndrome (@DISEASE$) is a rare disorder with characteristic craniofacial features, congenital @PHENOTYPICFEATURE$ of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation.	false
+7352e937e253f61030565b0e4250e13dba02904b	A high pretreatment @DISEASE$ was associated with advanced clinical stage, histological type and @PHENOTYPICFEATURE$ grade (P<0.001,	false
+77811ec3d1871bb054f67432831244785ac591ee	However, @DISEASE$ was more efficient in predicting prognosis of advanced NSCLC than these three single prognosis related @PHENOTYPICFEATURE$ markers.	false
+8fb98bb88c84add0043046a598d8e861e02cf1a2	One year later, @PHENOTYPICFEATURE$, @DISEASE$ hypertension and type 2 diabetes mellitus were diagnosed.	false
+abfcdb058a0f41c7fecb37888641b8ddd4a5100d	Symptoms included abdominal pain, @DISEASE$ hypotension, @PHENOTYPICFEATURE$.	false
+4680cce315143268b7f3c0a04e75c317f6c845c9	Symptoms included @PHENOTYPICFEATURE$, @DISEASE$ hypotension, nausea and vomiting.	false
+48944ad3415538dcffaf84c9bef7bf92ca4b3df0	@DISEASE$ stiffness and asymptomatic intracranial large @PHENOTYPICFEATURE$ and calcification in hypertensive chinese.	false
+536c18488da1e303ca7b1db3251106454b10b665	In most cases, early death occurs from @PHENOTYPICFEATURE$, anuria and refractory @DISEASE$ hypotension.	false
+b4f6134307eed399fc0f9a18c3872cbb1e68d59e	Common symptoms comprise local edema, abdominal pain and @PHENOTYPICFEATURE$, @DISEASE$ hypotension and neurological disorders.	false
+6b54ba8ba31fa4b76a49b2e09162876fdec245d4	Common symptoms comprise local edema, @PHENOTYPICFEATURE$ and vomiting, @DISEASE$ hypotension and neurological disorders.	false
+47bcd7723c87838bc1f1764914468fc9c41d9e63	We report a case of 56-year-old Caucasian female with a history of @DISEASE$ hypertension, who presented with acute respiratory failure and @PHENOTYPICFEATURE$ misdiagnosed as brainstem ischemia.	false
+2b4c58a83414398dde02dbc49f5e47b086a24d17	The main symptoms and signs were severe abdominal pain, @PHENOTYPICFEATURE$, and @DISEASE$ hypertension.	false
+bd32123097938c81d5b59d700782c3a2fe8dc770	The main symptoms and signs were severe @PHENOTYPICFEATURE$, vomiting, and @DISEASE$ hypertension.	false
+85594ed3457b2bc3ec921aa6fe013721db1aba38	[Internal frontal hyperostosis, @DISEASE$ hypertension & pseudobulbar syndrome with @PHENOTYPICFEATURE$].	false
+a6bf19f1600962a64a1c6b1f8c3ddaa0b835922d	There is a possible association between @PHENOTYPICFEATURE$ and @DISEASE$ hypertension.	false
+2df99765c835a5ad66e144898c1b001293ede508	The clinical features are unspecific and include weakness, @PHENOTYPICFEATURE$, abdominal pain and diarrhea, @DISEASE$ hypotension, hypoglycemia and dehydration.	false
+02b3136fabe161f4c047e53696632fe486e4192d	The clinical features are unspecific and include weakness, nausea and vomiting, @PHENOTYPICFEATURE$ and diarrhea, @DISEASE$ hypotension, hypoglycemia and dehydration.	false
+934e1b0490998c71f0a09645038aadb60a523c65	First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, @PHENOTYPICFEATURE$, amenorrhea, and @DISEASE$, the patient was then diagnosed with PGA-II.	false
+4e878f01dec52bd403680f4ccd738c7a76905c03	Despite the varying etiologies, their clinical presentations were marked by absence of @DISEASE$, prepubertal genitalia (2/3), and @PHENOTYPICFEATURE$ (1/3).	false
+0e5cc57b5df5078ecd61bb5fb6846183b7e3293d	@DISEASE$ type IIb in association with external @PHENOTYPICFEATURE$.	false
+fff63604946df81fc50553ea735eafbee4eb6b8c	@DISEASE$ type II b with bilateral @PHENOTYPICFEATURE$.	false
+61b6ea8791140f546b4418fa02a8e036cbe6cd53	@DISEASE$ is a devastating corneal condition that can lead to ocular morbidity and @PHENOTYPICFEATURE$.	false
+d8f0480d5d12d92c1597783e51e2332ad8cc872d	Ocular complications included @DISEASE$ (1.9%), corneal opacity (5.9%), secondary glaucoma (7.8%), @PHENOTYPICFEATURE$ (1.9%), and postherpetic neuralgia (13.3%).	false
+a66f2cd057c73f004028e26459f02cbb3391dd0e	An autopsy case of macroglobulinemia complicated with syndrome of inappropriate secretion of ADH (SIADH) like hyponatremia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+95faca4acc27e99457f46414263223ae2b3fd354	@DISEASE$ associated with hyperlipemia and @PHENOTYPICFEATURE$; report of case.	false
+e3926edfcf12983d2d87f00308b6d5008697c72f	So, @PHENOTYPICFEATURE$, altering taste generation and/or transmission, seems frequently associated to @DISEASE$.	false
+a6f3bd6798d9dc3c9e79cd3a9e02574471e4b53a	There were 14 patients who experienced Grade 2 morbidities (cataract: 14; retinal disorders: 7; dry eye: 3), 23 patients who had Grade 3 morbidities (@DISEASE$; dry eye: 1), and 1 patient who had Grade 4 @PHENOTYPICFEATURE$.	false
+22b70cd36ee7532dc2e0573bc0cd447e654c7af9	There were 14 patients who experienced Grade 2 morbidities (@PHENOTYPICFEATURE$: 14; retinal disorders: 7; dry eye: 3), 23 patients who had Grade 3 morbidities (@DISEASE$; dry eye: 1), and 1 patient who had Grade 4 glaucoma.	false
+3205b70cb7e557630277d0686e8c113179fa35b1	The ten-year cumulative incidence was 43.6% for any @DISEASE$.1% for nuclear cataract, 22.0% for cortical cataract, 13.1% for PSC cataract, and 26.8% for @PHENOTYPICFEATURE$ surgery.	false
+e993705eabc83464a6098c97d457beaecf72c312	The ten-year cumulative incidence was 43.6% for any @DISEASE$.1% for nuclear cataract, 22.0% for cortical cataract, 13.1% for PSC @PHENOTYPICFEATURE$, and 26.8% for cataract surgery.	false
+5098d8037fed43152fa34989db0b6481d1b7d88a	Twenty seven of these 71 patients have undergone surgery for congenital @DISEASE$ - for traumatic @PHENOTYPICFEATURE$ aspiration-irrigation with a posterior chamber intraocular lens implantation and 21 - for secondary intraocular lens implantation.	false
+39bb14e3b09f98ce9a39aefaa57140fa97421f7a	Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two inherited diseases in humans: hypotrichosis with juvenile macular dystrophy (@DISEASE$) and ectodermal dysplasia, @PHENOTYPICFEATURE$, macular dystrophy (EEM syndrome).	false
+f1a0936771fa184098479ba60cb9dd107030aaca	Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two inherited diseases in humans: @DISEASE$ (HJMD) and ectodermal dysplasia, @PHENOTYPICFEATURE$, macular dystrophy (EEM syndrome).	false
+5d5912e0ddcefb356cfc8771884678e62cb155fb	CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: @DISEASE$ and Ectodermal Dysplasia, @PHENOTYPICFEATURE$ and Macular Dystrophy.	false
+2749b880279ea944a8b9540c0b4bd5f0034167f0	@DISEASE$ (HJMD) and ectodermal dysplasia, @PHENOTYPICFEATURE$ and macular dystrophy (EEM) are both caused by mutations in the CDH3 gene.	false
+ce020f632380a1706c4b36b2cb8f08640b2641b2	Hypotrichosis with juvenile macular dystrophy (@DISEASE$) and ectodermal dysplasia, @PHENOTYPICFEATURE$ and macular dystrophy (EEM) are both caused by mutations in the CDH3 gene.	false
+fc4d77b428c564f81bf81e89381937c3f3cd946e	We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of @DISEASE$ versus ectodermal dysplasia, @PHENOTYPICFEATURE$ and macular dystrophy syndrome.	false
+fc3a9fcb0d511279346ebaa604fdb7e296fe05eb	@DISEASE$ is a rare autosomal recessive disorder characterized by early @PHENOTYPICFEATURE$ heralding severe degenerative changes of the retinal macula and culminating in blindness during the second to third decade of life.	false
+1fbecafe1c62aeccf6b759f2ddc7f7c2f2923978	Autoantibodies have been implicated in the development of @DISEASE$ (CFE) or Rasmussen's disease, a progressive and intractable form of epilepsy characterized by uncontrollable unilateral focal seizures, @PHENOTYPICFEATURE$, and inflammation.	false
+edad3d0abd1c7d6c24a0e95b6e4be1804d189184	The patients were asked to respond the visual analogue scale and EuroQoL-5D scales for assessing the pain and quality of life impairment associated with @DISEASE$ @PHENOTYPICFEATURE$.	false
+dfe99393fa6375fc3a6c6172d031a7bdc44bb133	As arsenic is no longer detectable by toxicologic-chemical means the deposits of arsenic have been depleted and excreted long ago and so the diagnosis of chronic poisoning today depends on morphological changes of the skin (@DISEASE$ @PHENOTYPICFEATURE$, melanosis and M. Bowen) which have been shown to be reliable.	false
+4ef9c8fe623595d16c561a06878f12294013d0f7	The prevalence of skin lesions of arsenic was estimated for complex survey design, using surveyfreq and surveylogistic options of SAS 9.1 software.The prevalence of definitive cases i.e. @PHENOTYPICFEATURE$ of both palms and soles, was 3.4 per 1000 and suspected cases i.e. any sign of @DISEASE$ skin lesions (melanosis and/or keratosis), were 13.0 per 1000 among > or = 15-year-old persons in the district.	false
+d832ec7332b19f8ceac6d296627c8c9d86059938	26 patients with ataxic @PHENOTYPICFEATURE$ syndrome (@DISEASE$), due to acute ischemic cerebrovascular disease, have been submitted to clinical and electrophysiological evaluation, in order to assess the frequency of sensory disturbances in this condition.	false
+1842b761ae1966c438515ef05c32a782d6b4f8bd	26 patients with @PHENOTYPICFEATURE$ hemiparesis syndrome (@DISEASE$), due to acute ischemic cerebrovascular disease, have been submitted to clinical and electrophysiological evaluation, in order to assess the frequency of sensory disturbances in this condition.	false
+42dcdd90e125744964e246b284ca4a29e5dccfe2	Intermittent benzodiazepines have been recommended in managing breakthrough @PHENOTYPICFEATURE$ in @DISEASE$.	false
+131ba7536401816150e679427d88a79b300ba2ad	Previous studies of Ammon's horn sclerosis (AHS) suggest that @DISEASE$ is both the result of and the cause of @PHENOTYPICFEATURE$, and support the idea that seizures cause alterations in cell numbers and location.	false
+2f5fcb89c0537e301e05242efa610b364a9082d7	Previous studies of Ammon's horn sclerosis (@DISEASE$) suggest that AHS is both the result of and the cause of seizures, and support the idea that @PHENOTYPICFEATURE$ cause alterations in cell numbers and location.	false
+c1d8278d57f554ad3d880ab7da35bf2b13821e11	Previous studies of Ammon's horn sclerosis (@DISEASE$) suggest that AHS is both the result of and the cause of @PHENOTYPICFEATURE$, and support the idea that seizures cause alterations in cell numbers and location.	false
+5062f397b63a34dd097ed1632c6075386876dd11	Previous studies of Ammon's horn sclerosis (AHS) suggest that @DISEASE$ is both the result of and the cause of seizures, and support the idea that @PHENOTYPICFEATURE$ cause alterations in cell numbers and location.	false
+3333786a143d5737dcd647609d00ae4a179af819	The clinical course is characterized by severe @DISEASE$, a transient neurologic disorder with tremor and @PHENOTYPICFEATURE$, and minor infectious illnesses.	false
+783bc06a1739d4b16e99c0a71bf1da529d763c61	Significant clinical, genetic, pathologic, and experimental studies of Ammon horn sclerosis (@DISEASE$) suggest that AHS is the result and cause of @PHENOTYPICFEATURE$.	false
+a86e633562a6092ffa2595d2fede45d1cd77ded1	Significant clinical, genetic, pathologic, and experimental studies of Ammon horn sclerosis (AHS) suggest that @DISEASE$ is the result and cause of @PHENOTYPICFEATURE$.	false
+56663fe09ac0e91581e7250ad8c996c4f2c61709	Bilateral @PHENOTYPICFEATURE$ from uric acid stones developed in a patient with severe @DISEASE$ at a time of hemolytic crisis.	false
+cfc791cae4b136003388901e67212f07562adc59	These features of @PHENOTYPICFEATURE$, cognitive degeneration, and hepatopathy represent the "classic triad" of @DISEASE$.	false
+02610c8e03f90033f60418aeabc304d81f4e1dbf	We describe a five-yr-old boy with muscular @PHENOTYPICFEATURE$, impaired growth, @DISEASE$, and neutropenia who underwent HSCT from his HLA-identical sister.	false
+aede139f49b2ee67dc67cc26331062a26d2ae532	Even though Ammon's horn sclerosis (@DISEASE$) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from seizures postoperatively, we report here that both synaptic and intrinsic alterations enhance @PHENOTYPICFEATURE$ susceptibility of the subiculum also in the absence of classical AHS.	false
+7068f94e86895cec96907813da103e74e0807bdb	Even though Ammon's horn sclerosis (@DISEASE$) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from @PHENOTYPICFEATURE$ postoperatively, we report here that both synaptic and intrinsic alterations enhance seizure susceptibility of the subiculum also in the absence of classical AHS.	false
+aa59fcc0a99bfb336c0a6ccb76e8c033411f491f	Even though Ammon's horn sclerosis (AHS) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from seizures postoperatively, we report here that both synaptic and intrinsic alterations enhance @PHENOTYPICFEATURE$ susceptibility of the subiculum also in the absence of classical @DISEASE$.	false
+9c75269c54d10645953975f0d6c38d39fa32f7d0	Even though Ammon's horn sclerosis (AHS) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from @PHENOTYPICFEATURE$ postoperatively, we report here that both synaptic and intrinsic alterations enhance seizure susceptibility of the subiculum also in the absence of classical @DISEASE$.	false
+dd49eff546588b2fe601cba9e211a0fc33cd6086	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, @DISEASE$, and by a complex of neurologic manifestations including @PHENOTYPICFEATURE$, developmental delay, and spasticity.	false
+b50064c89bff3ab2033db354f8d847c8787180ea	PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, @DISEASE$, and by a complex of neurologic manifestations including ataxia, developmental delay, and @PHENOTYPICFEATURE$.	false
+3d2a508872b0bb24cf7423ed93b74909a177e82a	We herein report cytohistologic findings in a case of sole skeletal @DISEASE$ in a 51-year-old woman who presented with an expansile, heterogeneous lesion at T11 with cord compression and @PHENOTYPICFEATURE$.	false
+92ca1e6579ff601b1288b9bf8f04611d67094cc1	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and @DISEASE$ (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+9bd50b32b1ae304ad0f274f0e012836b429f229a	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, @PHENOTYPICFEATURE$, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial @DISEASE$, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+5c426e826157002a3150de3d4a19feb76a54c045	Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented @PHENOTYPICFEATURE$ with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and @DISEASE$.	false
+1f15b9e201b061b26fcaaff0294ee61ab2a21526	Molecular defects affecting the ATRX gene lead to the ATRX syndrome (@DISEASE$), characterized by severe mental retardation, microcephaly, distinct @PHENOTYPICFEATURE$, and genital abnormalities, as well as a wide spectrum of other pathological features.	false
+f470fdb9a33fcfb12b807ab3ce5d13a4bff6343b	The degree of @PHENOTYPICFEATURE$ worsen in RMN, was unchanged in Reeler and improved in Weaver and @DISEASE$ mice.	false
+f8b5171a0f77c7cf7aee7e7a11ca6e2d5021ddc5	We report a patient with relapsing-remitting multiple sclerosis who developed a progressive cerebellar syndrome with dysarthria, @PHENOTYPICFEATURE$ and vertigo mimicking development of secondary progressive multiple sclerosis but caused by anti-Yo antibody positive @DISEASE$ associated with ovarian cancer, presenting an unusual diagnostic challenge.	false
+d9c119ae9c6ed851d60815a300444b7927fd5cc4	The present findings also suggest that the normal progress of @DISEASE$ in the hand and foot plates of rodent fetuses may prevent the formation of some limb malformations such as webbing fusion of digits, @PHENOTYPICFEATURE$, or cleft hand/foot.	false
+0bb516ad1ba4a607d6c34a368a38c11f2142cdca	In view of the fact that it has been well-documented that neurons in AD can re-enter into the cell division cycle, the findings presented here of increased @DISEASE$ advance the hypothesis that deregulation of the cell cycle may contribute to neuronal degeneration and subsequent @PHENOTYPICFEATURE$ in AD.	false
+9267faaa18240b867ca778ffa1a8f151c5a82550	@DISEASE$ is an autosomal recessive genetic disease that results in impaired mucociliary clearance causing progressive involvement of the upper and lower respiratory tract, characterized by airway obstruction and @PHENOTYPICFEATURE$ of the lungs, middle ear and paranasal sinuses.	false
+3fed3ed17883dd8cbf565d429f0ef4c2b3050adf	Here we describe the youngest known case of PCA-1 positive @DISEASE$ in a male, whose @PHENOTYPICFEATURE$ was undetectable even on FDG-PET.	false
+b6d5180d656d920ea84057d13c7ede857ccca16c	The purpose of this study was to evaluate the feasibility of FDG imaging with positron coincidence detection gamma camera (@DISEASE$) in detecting @PHENOTYPICFEATURE$ in comparison with FDG imaging with the dedicated positron emission tomography (PET).	false
+265b68087b39f783271963aa0906b762c307b687	His other dysmorphic features included @PHENOTYPICFEATURE$, @DISEASE$, and an axillary pterygium.	false
+5c3065d4ee086e652d1e5aef4c0cdf9d6dea4f69	Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+25fa60ac0a4b3e14b432e0637d496411c07d8d05	We describe a patient with typical features: severe @PHENOTYPICFEATURE$, glossoptosis, central @DISEASE$ and multiple posterior rib-gap defects seen on chest radiograph.	false
+629e338ec25695ecba8101abfc9a45a16398ccf8	The first patient, a male, was born at term by Cesarean section and manifests micrognathia, @DISEASE$, hypoplastic right ear, anotia on the left side, cerebellar vermis hypoplasia, @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and hypoplastic left heart.	false
+96caeb89e109ebbd6542701dc7e67942e34f4e79	The first patient, a male, was born at term by Cesarean section and manifests @PHENOTYPICFEATURE$, @DISEASE$, hypoplastic right ear, anotia on the left side, cerebellar vermis hypoplasia, hydrocephalus, agenesis of the corpus callosum, and hypoplastic left heart.	false
+13535231c520a30e902186fd499b70fb58b6bda3	This patient shares features with 12 previously reported cases including hypertelorism, @DISEASE$, bow shaped mouth, @PHENOTYPICFEATURE$, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation.	false
+88d7ec494c6243927ab24bdcec7431979cdf7efa	This patient shares features with 12 previously reported cases including @PHENOTYPICFEATURE$, @DISEASE$, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation.	false
+3ee143e8ed405e325b6bacd419536a97140db0b8	This patient shares features with 12 previously reported cases including hypertelorism, @DISEASE$, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and @PHENOTYPICFEATURE$.	false
+f91b69acd8bb406b9b4e3520672ceeb37d0ea23e	He had severe @PHENOTYPICFEATURE$ with glossoptosis and a @DISEASE$ were noted.	false
+83b6033c11dc07cd4731beb66fece9388ef2cc2b	A man with intellectual disability presented with schizophrenia, @PHENOTYPICFEATURE$, facial dysmorphism and @DISEASE$.	false
+b06c25b5322f840238e77c3213813e0aa833328f	The child also had a severe @PHENOTYPICFEATURE$ and a @DISEASE$ and required a tracheostomy to relieve upper airway obstruction.	false
+0537146849ab92fa51e9195c42ce93badf4905c9	Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, absent uvula, hypospadias, simian line in both hands and hammer toes.	false
+0a3612991bd12b2e7792cd0376f221379fab85bf	Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism, @PHENOTYPICFEATURE$, @DISEASE$, absent uvula, hypospadias, simian line in both hands and hammer toes.	false
+e0caf4bb3c73c9f40f1301930ca0d6cb06ff0458	Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, @PHENOTYPICFEATURE$, @DISEASE$, a thin vermilion border of the upper lip, and left renal dysgenesis.	false
+c2d449a4cc8cc715f9b97ed68e9becfe356e5543	Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, @DISEASE$, a @PHENOTYPICFEATURE$ of the upper lip, and left renal dysgenesis.	false
+ca859c42c8769ea1282c867b9786189a9845ee4e	The increased rates of hypertension, metabolic syndrome, @DISEASE$, @PHENOTYPICFEATURE$ and heart failure observed nowadays in Latin America could be the result of the discrepancy between the nutritional environment during fetal and early life and the adult environment.	false
+dc5202abfb74ebe0d3db9950bca7c1045e482a84	The bibliography reveals several suspect etiological factors including atherosclerosis, inflammation, @PHENOTYPICFEATURE$, cataracts, @DISEASE$, aging, and degeneration of the nervous system.	false
+368095a63593a550612941724dea99227cda29e3	Metabolic risk factors for the development of adenomas and cancers are the same - obesity, impaired glucose tolerance, dyslipidemia, hypertension, cardiovascular diseases and @DISEASE$. Therefore, the key issue in the near future is the development of a simple scoring system, easy to use in clinical practice, which would identify individuals with high metabolic risk of colorectal @PHENOTYPICFEATURE$ and would be used for individual CRC secondary prevention strategies.	false
+f4be4e43f6d1c2495ef83fe5fb9193d5b7bd6126	coronary heart disease, osteoporosis, @PHENOTYPICFEATURE$, @DISEASE$ and thyroid gland dysfunction.	false
+e45aa71a3e6c31a77c76dae2c81c5a66689944bf	A 30-year-old male patient with a history of alcoholic hepatitis, @DISEASE$, chronic malnutrition, increased volume beginning with generalized abdominal pain, abdominal @PHENOTYPICFEATURE$ of 20 by 15 cm, mobile, solid, without signs of peritoneal irritation.	false
+4adf80727857270b8a1bf2769f6bb19dd654653d	Metformin is a cornerstone in the treatment of @DISEASE$. Retrospective studies have shown a survival benefit in diabetic patients with many solid @PHENOTYPICFEATURE$ including pancreatic cancer that have been treated with metformin compared with patients treated with insulin or sulfonylureas.	false
+5267fe4378f420a512df186bc658e112e5a23d97	The evidence of a risk reducing effect of whole grain relating to colorectal cancer is assessed as possible, whereas it is probable relating to cardiovascular disease and @DISEASE$. There is an insufficient risk-reducing effect of legumes like soja relating to epithelial @PHENOTYPICFEATURE$ and cardiovascular disease.	false
+6bcda85b91a3b0fd57a343a00a0cfe17494156e2	Health consequences of overweight are: ischemic heart disease, congestive cardiac failure, hypertension, arteriosclerotic vascular disease, @DISEASE$, @PHENOTYPICFEATURE$, degenerative joint disease and many more.	false
+efac124cde64a307eb1003420d878c1f7fe5c525	Reduction in beta-cell mass and function contributes to the pathogenesis of @DISEASE$. The proinflammatory cytokines @PHENOTYPICFEATURE$ necrosis factor (TNF)? and interleukin (IL)-1? have been implicated in the pathogenesis of this disease.	false
+0de080d5b0bbdee00d45c32e424d44cb8b75451d	Most @PHENOTYPICFEATURE$ in Carney complex (CNC) are benign, including primary pigmented nodular adrenocortical disease (@DISEASE$), the main endocrine tumor in CNC.	false
+4eab1cb9c9f7cf566e1ce5e2883fd910bbd7a1ed	Most @PHENOTYPICFEATURE$ in Carney complex (CNC) are benign, including @DISEASE$ (PPNAD), the main endocrine tumor in CNC.	false
+3f66b05b12adad1ccf567e66b1888c48871cb9f2	@DISEASE$ (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine @PHENOTYPICFEATURE$, forming the Carney complex (CNC).	false
+6367c1eb6143e8415b4fb89cb1552f170bc35b08	Primary pigmented nodular adrenocortical disease (@DISEASE$) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine @PHENOTYPICFEATURE$, forming the Carney complex (CNC).	false
+f71d9fd72d19dc81a7c7fb1b985a62b8c77e89a2	@DISEASE$ (PPNAD) is associated with inactivating mutations of the PRKAR1A @PHENOTYPICFEATURE$ suppressor gene that encodes the regulatory subunit R1? of the cAMP-dependent protein kinase (PKA).	false
+bbeff80eb339eade4c05eaed796fbbdbbe0dd3d2	Primary pigmented nodular adrenocortical disease (@DISEASE$) is associated with inactivating mutations of the PRKAR1A @PHENOTYPICFEATURE$ suppressor gene that encodes the regulatory subunit R1? of the cAMP-dependent protein kinase (PKA).	false
+e3226ed39910872e42de04c92e76d0a77f66c4ae	In the last 10 years, extensive studies showed that the cAMP pathway is deregulated in patients suffering from adrenocortical @PHENOTYPICFEATURE$, and particularly in @DISEASE$ (PPNAD).	false
+85c698a8f2edb81a8cca4d2673a4808f71d429d0	In the last 10 years, extensive studies showed that the cAMP pathway is deregulated in patients suffering from adrenocortical @PHENOTYPICFEATURE$, and particularly in primary pigmented nodular adrenocortical disease (@DISEASE$).	false
+be5369a7bfb2f270cfa81a3b16fb5ea2c809e028	@DISEASE$ (PPNAD) is the main endocrine manifestation of Carney complex, a multiple @PHENOTYPICFEATURE$ syndrome caused by PRKAR1A gene mutations.	false
+c1361d6632589b60acda91c8864bbd0efca2e45d	Primary pigmented nodular adrenocortical disease (@DISEASE$) is the main endocrine manifestation of Carney complex, a multiple @PHENOTYPICFEATURE$ syndrome caused by PRKAR1A gene mutations.	false
+f1d7314ec264c5e80e90d3769f617103de5ba7f3	Primary pigmented nodular adrenocortical disease (@DISEASE$) is a rare adrenal @PHENOTYPICFEATURE$ causing corticotrophin-independent Cushing's syndrome.	false
+ea9ca7a6f808ca4a787168629ce5c50fb9feb425	@DISEASE$ (PPNAD) is a rare adrenal @PHENOTYPICFEATURE$ causing corticotrophin-independent Cushing's syndrome.	false
+6b492533606f01599fe157b7bdd073858d616ac2	Synaptophysin immunoreactivity in @DISEASE$: neuroendocrine properties of @PHENOTYPICFEATURE$ associated with Carney complex.	false
+06206e71f91d27b427b99f91e4ef18d9bdf4d9f2	In the present study, we examined PDE11A expression in normal adrenocortical tissue, sporadic @PHENOTYPICFEATURE$, and hyperplasias without PDE11A mutations, and @DISEASE$ (PPNAD) and adenomas from patients with PRKAR1A and a single tumor with a GNAS mutation.	false
+b54c707cba3e3d293aee74266e947a0a616da890	In the present study, we examined PDE11A expression in normal adrenocortical tissue, sporadic tumors, and hyperplasias without PDE11A mutations, and primary pigmented nodular adrenocortical disease (@DISEASE$) and adenomas from patients with PRKAR1A and a single @PHENOTYPICFEATURE$ with a GNAS mutation.	false
+fd1e301f81093abf0e8f424a1cdafc0b4e27bd2b	In the present study, we examined PDE11A expression in normal adrenocortical tissue, sporadic tumors, and hyperplasias without PDE11A mutations, and @DISEASE$ (PPNAD) and adenomas from patients with PRKAR1A and a single @PHENOTYPICFEATURE$ with a GNAS mutation.	false
+d9f8c2e58abb573e65fbfc3f58a209fefb8663cc	In the present study, we examined PDE11A expression in normal adrenocortical tissue, sporadic @PHENOTYPICFEATURE$, and hyperplasias without PDE11A mutations, and primary pigmented nodular adrenocortical disease (@DISEASE$) and adenomas from patients with PRKAR1A and a single tumor with a GNAS mutation.	false
+2d6605486e7cd0f9b8b0ff6fb1fb074b1dafb6ec	These tissues are also targets of Carney complex (CNC), a multiple @PHENOTYPICFEATURE$ syndrome caused by germline inactivating PRKAR1A mutations (PRKAR1A-mut) and associated with @DISEASE$ (PPNAD) and increased steroid synthesis.	false
+65006cdd7563a4a218c588e60e78cca176f4e301	These tissues are also targets of Carney complex (CNC), a multiple @PHENOTYPICFEATURE$ syndrome caused by germline inactivating PRKAR1A mutations (PRKAR1A-mut) and associated with primary pigmented nodular adrenocortical disease (@DISEASE$) and increased steroid synthesis.	false
+9841afd5c2ec3629bab24dff1688745f5da5a9ae	Carney complex (CNC) is characterized by lentiginosis and myxomatosis together with a variety of endocrine, neural crest-derived, and other @PHENOTYPICFEATURE$, including @DISEASE$ (PPNAD).	false
+4a1bd1c80cdc416b11b420681e14f2abd85b658c	Carney complex (CNC) is characterized by lentiginosis and myxomatosis together with a variety of endocrine, neural crest-derived, and other @PHENOTYPICFEATURE$, including primary pigmented nodular adrenocortical disease (@DISEASE$).	false
+b5fdbe9770312e4f36224665eadf1ddf2ca03591	[@DISEASE$: first manifestation as @PHENOTYPICFEATURE$ in a newborn].	false
+4875fb05a6592485cec0e3b4104dcfe449101f79	Selective activation of mTORC1 signaling recapitulates @PHENOTYPICFEATURE$, @DISEASE$, and neurodegenerative diseases.	false
+dc1eae7e24e66b325cbfa3eac3f4b0b84c8b9f2e	Mutations in TSC1/TSC2, NF1, or PTEN activate the mTOR/PI3K pathway and lead to syndromic ASD with @DISEASE$, neurofibromatosis, or @PHENOTYPICFEATURE$.	false
+0f87f9051fd83a2e38cbbc16474b745670ac0420	@DISEASE$ and @PHENOTYPICFEATURE$ in three Zulu patients.	false
+7bc44b88a711286c526cdedc17fd578bc10bfcd0	The etiologies of symptomatic IS in this study were @DISEASE$, hypoxic ischemic encephalopathy (HIE)/periventricular leukomalacia, porencephaly, partial agenesis of corpus callosum, hemimegalencephaly, cortical dysplasia, and @PHENOTYPICFEATURE$.	false
+4453bd778ca5a49cac65f2a96fa3f3183d7e409f	Neonatal @DISEASE$ and multiple @PHENOTYPICFEATURE$.	false
+17e19dfb02f5ed99d7e466faa93f2abd14d845eb	@DISEASE$ presenting with a @PHENOTYPICFEATURE$.	false
+98e105808fc73543a0df8fae8ae67a00f01ccaaf	In the first case, @PHENOTYPICFEATURE$ was present in a child with @DISEASE$ and cardiac rhabdomyomata.	false
+196b54cc397caa2ddd273a6c659a8511c559cbb3	This is a case of neonatal @DISEASE$ associated with cardiac rhabdomyoma and manifested by fetal @PHENOTYPICFEATURE$-bradycardia.	false
+46482c7cee4234d39bae3fc53a15c1417fa174b3	[Bourneville's @DISEASE$ with unusual ocular manifestations: papillary @PHENOTYPICFEATURE$ and band-shaped keratitis].	false
+a503cc29d12211b408699ffdc779d5d0e59aea26	LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, @DISEASE$, mitochondrial disorders, myoadenylate deaminase deficiency, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich @PHENOTYPICFEATURE$.	false
+b82cb4e20f1ca8dcd4aef693e92e61c2551c063a	In addition, there are specific neurocardiac diseases that affect both systems simultaneously, such as Huntington disease, Lewy body diseases, Friedreich @PHENOTYPICFEATURE$, congenital heart diseases, @DISEASE$, and Timothy syndrome.	false
+1c2b02e4fce0f3da44d81d1740c8b82f09f09cb3	@DISEASE$ should be considered in persistently cyanotic cats with normal partial arterial oxygen pressure and lack of evidence of cardiopulmonary disease, @PHENOTYPICFEATURE$, or toxin exposure.	false
+bc74bd3b14d9843b8d6ca3b389c9e46f320f7891	Heterozygotes for @DISEASE$ (Ccd) and @PHENOTYPICFEATURE$ (Dsh) were crossed to test whether synergistic interactions occur between different dominant mutations whose individual pleiotropic phenotypic effects exhibit a common feature.	false
+f2d7075cbe8d2089aad32f34e5653889c6ee0096	This characteristic and other features (such as @PHENOTYPICFEATURE$ and testicondy) recall the phenotype of a human genetic pathology (@DISEASE$), correlations with which have not been explored previously in the context of character evolution within the recently established phylogeny of living mammalian clades.	false
+413da0fb6d65ff119f7874de606a2ac6ee92d88e	Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants @DISEASE$ (Ccd) and @PHENOTYPICFEATURE$ (Dsh).	false
+3fb60f5886f9b42eca4ec09e4ffaee62897f0171	An inherited predisposition to pancreatic cancer (PC) is prevalent in about 3% of PC cases and is currently believed to occur in three distinct clinical settings, (1) hereditary @PHENOTYPICFEATURE$ predisposition syndromes with an increased risk of PC such as Peutz-Jeghers syndrome and familial atypical multiple mole melanoma, (2) @DISEASE$ and cystic fibrosis, in which genetically determined early-age changes of the pancreas can predispose to the development of PC, and (3) familial pancreatic cancer syndrome (FPC).	false
+1faede84815a7b5371d43181f4da5fefe3860747	The clinical aspects are discussed, including the correlations between expression of trypsinogens and PSTI/TATI/SPINK1 in tissues, serum, and urine of patients with pancreatitis or cancer and clinicopathological characteristics, i.e., the roles of trypsinogens and PSTI/TATI/SPINK1 in spontaneous and @DISEASE$, @PHENOTYPICFEATURE$ progression, and prognosis.	false
+157546e6953dff4f662bf8ba4e5d06a589ef0dfb	Although its etiology is ill defined; obesity, diabetes mellitus, chronic pancreatitis, @DISEASE$, and conditions that cause pancreatic ductal obstruction, for example @PHENOTYPICFEATURE$ and stones, are related to its pathogenesis.	false
+fe578c0f9d2d7fff677b1d04999384983a102d5f	Familial pancreatic cancer (FPC) describes families with at least two first-degree relatives with confirmed exocrine pancreatic cancer that do not fulfil the criteria of other inherited @PHENOTYPICFEATURE$ syndromes with increased risks of pancreatic cancer, such as Peutz-Jeghers syndrome, @DISEASE$, and hereditary breast and ovarian cancer.	false
+312514db76d0d8a7c9f45f153ee613038d3aad9f	Less commonly, @DISEASE$, cystic fibrosis, a choledochocele, annular pancreas, an anomalous pancreatobiliary junction, pancreatobiliary @PHENOTYPICFEATURE$, or chronic pancreatitis are diagnosed.	false
+f1ee17c5fe3383bff8c48bdd94e8c1f467cd161b	The obvious cost constraints of screening populations at risk but with a low @PHENOTYPICFEATURE$ yield will restrict screening protocols to only the highest risk groups (@DISEASE$ = age 50, certain hereditary pancreatic cancer kindreds).	false
+30def651cb94b8fe34c2b0eb10fc875d9aadf7e6	Patients predisposed to developing ductal pancreatic carcinoma (PC) are at risk of familial pancreatic cancer syndrome (FPC), @DISEASE$, and other hereditary @PHENOTYPICFEATURE$ predisposition syndromes such as Peutz-Jeghers syndrome and familial atypical multiple mole-melanoma syndrome.	false
+ace4aeec4856df1ac691851eee3f6d4f200428d8	gene demonstrating short stature, @PHENOTYPICFEATURE$, and uveitis with @DISEASE$.	false
+d90a3b05d6cbbf6f316e5215745a99a3965cf6c0	The essential features of @DISEASE$ were peripheral eosinophilia, @PHENOTYPICFEATURE$ and endothelial damage in the acute phase; myalgia, sensory neuropathy, hepatic injury, skin oedema and sicca in the intermediate phase; and peripheral neuropathy, muscle wasting, scleroderma and hepatopathy in the chronic phase.	false
+c1e03401fe3afe1551b4ff60740600af9cd747ac	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the Laurence-Moon syndrome (@DISEASE$) there is a considerable terminological confusion in the medical literature.	false
+c3e8b940d0a08ac04240c254b52095252217c1eb	They are differentiated by the presence of spasticity and the absence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+bb0e95ceb5a33c1a8ddd6f70caef267c736573ac	We report a case of inferior vena cava (IVC) leiomyosarcoma (@DISEASE$) found in a 53 year-old man who complained of @PHENOTYPICFEATURE$.	false
+cd198938881576fe10f2e859a6b3c0f2d0e31976	@DISEASE$ with Mental Retardation, @PHENOTYPICFEATURE$ and Ventricular Septal Defect.	false
+e97fc4478dc5c23f27e7ead4d950f071186113a0	@DISEASE$ associated with noninflammatory @PHENOTYPICFEATURE$.	false
+25f1b1dc1d75592211db76eb3f10e724bdef19f1	The only differential diagnosis is Crisfield-Dretakis-@DISEASE$, a combination of lateral gaze palsy, @PHENOTYPICFEATURE$, and scoliosis without hypotonia, recessively inherited.	false
+fdae5572dcce76d92446dd5089ca6aea2ef9c2cf	To investigate the frequency of @PHENOTYPICFEATURE$ (SNHL) in patients with mixed connective tissue disease (@DISEASE$).	false
+e93316f64720155ad56855a40245a4c5015be40f	Early onset schizophrenia (@DISEASE$) is often associated with poorer outcomes, including lack of school education, higher risk of @PHENOTYPICFEATURE$ and resistance to treatment.	false
+a5354040ff368f18141dd92c2ae6206bed7ab915	@DISEASE$ or EOBL may be indicated by loss of @PHENOTYPICFEATURE$ control, decreased or irregular perception of stimulation by the patient and loss of other VNS-induced effects.	false
+0c8f73859c2ddfc5f0d22b3f53937a87bd4acc1d	The objective of this study was to investigate the tendency for local processing style ('weak central coherence') and executive dysfunction in parents of subjects with an autism spectrum disorder (ASD) compared with parents of individuals with early onset schizophrenia (@DISEASE$) and @PHENOTYPICFEATURE$ (MR).	false
+5bc3cc1dce78e92468304ddc346afdf113a0692d	The authors evaluated the impact of early-onset @PHENOTYPICFEATURE$ (@DISEASE$) on grading of spontaneous SAH and on outcome.	false
+d8ceef39f5fa203c4fbe7da01c2beaebeae27ed4	Among the 613 @DISEASE$ patients selected, 3 main clusters of ICD-9 psychiatric diagnoses were identified: (1) older children with schizophrenia coaggregated with a spectrum of mood/emotional dysregulation conditions; (2) younger children with coaggregated schizophrenia, mental retardation/@PHENOTYPICFEATURE$ or autism spectrum disorders; and (3) older children with schizophrenia and significantly fewer diagnosed co-occurring conditions.	false
+7db664a613be94781cc41e91e7fa3f36cb59ca33	Among the 613 @DISEASE$ patients selected, 3 main clusters of ICD-9 psychiatric diagnoses were identified: (1) older children with schizophrenia coaggregated with a spectrum of mood/emotional dysregulation conditions; (2) younger children with coaggregated schizophrenia, @PHENOTYPICFEATURE$/intellectual disability or autism spectrum disorders; and (3) older children with schizophrenia and significantly fewer diagnosed co-occurring conditions.	false
+28f8cb2c71789613f3ff5c0f9dd06b827055c75f	To probe the specificity of traits that might be conceptualised as the broader phenotype of autism, parents of subjects with autism from simplex and multiplex families as well as parents of subjects with obsessive-compulsive disorders (OCD), early onset schizophrenia (@DISEASE$) and @PHENOTYPICFEATURE$ (MR) were assessed using the Personality Style and Disorder Inventory and the Symptom Checklist-90-Revised. Autism parents' scores were increased on several subscales (e.g.	false
+1eb9d0fdeeb6d331afd17a2c984cf4e306de05b6	A de novo @PHENOTYPICFEATURE$ in PRICKLE1 associated with @DISEASE$ and autism spectrum disorder.	false
+39c696416c676a54640577e54fbd1d3d2b13a137	In conclusion, over the years, approximately 8 out of 10 of our patients with M?ni?re's disease achieved complete or substantial control of @PHENOTYPICFEATURE$; however, this reduction was observed earlier in @DISEASE$ patients than in those who declined surgery.	false
+095aa269a8b04b334df54b1e2b799b95495d8885	It occurs in a variety of epileptic conditions (Primary generalized epilepsy, hypsarrhythmia, Lennox-Gastaut syndrome, also known as "petit mal variant"), in inborn errors of metabolism (Tay-Sachs disease, forms of ceroid lipofuscinosis), in neurobiochemically still poorly understood forms of degenerative processes such as Essential hereditary @DISEASE$ (Lafora-Unverricht-Lundborg), in benign heredo-degenerative disorders (Hartung's syndrome), in CNS infections (SSPE, Jakob-Creutzfeldt disease), in metabolic encephalopathies (renal failure, @PHENOTYPICFEATURE$), in CNS poisoning, in acute cerebral anoxia and in post-anoxic states.	false
+3057478a56772eae4db22d426bf097f233225c4a	microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, @PHENOTYPICFEATURE$, thin corpus callosum and @DISEASE$.	false
+6e4593de17c037fe2a8ef5a0fe1b6aff0ca7ba97	The children presented with primary and severe developmental delay associated with @DISEASE$, spastic tetraplegia, trunk and neck hypotonia, @PHENOTYPICFEATURE$, hearing loss, and microcephaly.	false
+221819fc2ab6ef74634bb9f28898eb31bdc974b1	A new autosomal @PHENOTYPICFEATURE$, rudimental (ral), which causes rudimentary-shaped wings in Drosophila melanogaster, has been isolated following ethyl methanesulfonate (@DISEASE$) mutagenesis.	false
+02d3c5882320ae6e461eaf31eb3ac6eead7422dd	In determining which combination of clinical and laboratory manifestations should be properly included in criteria for @DISEASE$ the following elements should be considered: (1) the presence of a well delineated, documented acute episode with characteristic symptoms, signs, and @PHENOTYPICFEATURE$; (2) the presence of characteristic histopathological abnormalities; (3) the presence of objective evidence for involvement of the most commonly affected major organs: skin, muscle, nerve, and/or lung; and (4) the absence of premorbidities or comorbidities that could explain the components of illness on which the diagnosis is based.	false
+3cbf39bff15a49c4691c771a00191af9b54c5675	In order to identify new genes involved in root elongation in rice, we screened an ethyl methane sulfonate (@DISEASE$)-mutagenized rice library, and isolated a short root @PHENOTYPICFEATURE$, Osglu3-1.	false
+4af14e15330d7e812b52756756f84ab70cbd4b7f	Using an @DISEASE$ mutagenesis screen for cardiac and @PHENOTYPICFEATURE$ in Drosophila embryos we obtained multiple mutants for two genetically interacting complementation groups that showed similar alary muscle and pericardial cell detachment phenotypes.	false
+bb62ed3bcf4dca8d516327d9b4952d72395767c2	The causes of brachial plexus palsy are obstetrical brachial plexus palsy, familial congenital brachial plexus palsy, maternal uterine malformation, @DISEASE$, osteomyelitis involving the proximal head of the humerus or cervical vertebral bodies, exostosis of the first rib, @PHENOTYPICFEATURE$ and hemangioma in the region of the brachial plexus, and intrauterine maladaptation.	false
+7762cc783d6828d6a14ea60d35612df6f9c32ce4	We describe a 1-year-old boy with @DISEASE$ who had vesicoureteral reflux (VUR) and @PHENOTYPICFEATURE$.	false
+ec64dccecbe0ae8b2dd510b09afa42fdf2586d57	Herein we report a child with @DISEASE$ characterized by low birth weight, cicatricial scarring, hypoplasia of both lower extremities with @PHENOTYPICFEATURE$, congenital hip dislocation, corneal opacity, atresia of the sigmoid colon and a rarely associated cloaca anomaly.	false
+eaf6fdc0737e5cba75efa1cb91885262b0429bde	Here we report a rare presentation of @DISEASE$ with @PHENOTYPICFEATURE$ in form of hemichorea and facial tics.	false
+b62716f69230c479dc13695b3ef1a1a2c1bf2ddf	Most patients had one of the three conditions: @DISEASE$, syndrome of ulnar aplasia with split hand/split @PHENOTYPICFEATURE$, or the Brachmann-de Lange syndrome.	false
+322510b4dd9be68d229fe9e8f3787bdc2fe5c75f	The @DISEASE$ and the split hand/split @PHENOTYPICFEATURE$ are heritable disorders.	false
+548524639de315e8aa673afe780a87f8870b62fd	Our results also showed that, oral administration of @DISEASE$ extract (200 mg/kg/day) or oseltamivir (20 mg/kg/day) to infected mice, increased the survival rate, reduced body @PHENOTYPICFEATURE$, and decreased lung virus titer.	false
+c069efd7b6f862d2e0cfd15cb09c40850bc44aa9	The pathogenesis of pulmonary hypertension syndrome (@DISEASE$, ascites) includes the development of systemic arterial @PHENOTYPICFEATURE$ (reduction in the saturation of hemoglobin with O(2), HbO(2)), which can be mimicked in clinically healthy broilers by i.v.	false
+9d1acb1cdaffc4723e7cea6dc527d5a40514adf8	We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (@DISEASE$, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, @PHENOTYPICFEATURE$, renal anomalies, imperforate anus, and hypothalamic hamartoma.	false
+e03fa8395e5e30ac13b59693cc5b752b5b819483	We noted that the features of PIV overlap with the VATER association and @DISEASE$ (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, @PHENOTYPICFEATURE$, renal anomalies, imperforate anus, and hypothalamic hamartoma.	false
+71f9c34b788354e7b6af1c8193e5e9e210399cc8	Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and @PHENOTYPICFEATURE$ should allow the delineation of @DISEASE$, even when a CNS tumour is absent.	false
+244a294d4eb1ccfcf28c4a9f4c59cb79be7194cb	The @PHENOTYPICFEATURE$-like growth of the metacestode larvae of the tapeworm E. multilocularis causes human @DISEASE$, a severe disease mainly affecting the liver.	false
+255549644d6eaa16f65ce5c00daef6fa0297d49c	Among them, hepatic @DISEASE$ (HAE) mimics slow growing liver @PHENOTYPICFEATURE$ with subsequent invasion to liver tissues and metastatic dissemination.	false
+4c3ebeb0389f6aa1109e6922e0d7094145c3a9ba	Hepatic @DISEASE$ is a serious disease that is characterized by @PHENOTYPICFEATURE$-like infiltrative growth.	false
+2da250865420c0384b043c0c9aa170eb4f2abfdf	@DISEASE$ disease of the liver shows @PHENOTYPICFEATURE$-like angiographic signs, such as atypical vascular formations, distensions, vascular irregularities, arterial stenoses as well as hepatosplenomegaly.	false
+4f21e0cec5baac63229cdb3c261ce611b8170395	It is concluded that (a) glucocorticoids increase plasma glucagon concentration in the basal state and in response to protein ingestion or aminogenic stimulation; (b) this effect of glucocorticoids occurs in the face of @PHENOTYPICFEATURE$ and persists in chronic hypercorticism; (c) @DISEASE$ is a characteristic of acute and chronic glucocorticoid excess, and may in turn contribute to steroid-induced hyperglucagonemia; and (d) increased alpha cell secretion may be a contributory factor in the gluconeogenic and diabetogenic effects of glucocorticoids.	false
+2a5f4fff36861db2cdab6e74f027182be38cbb00	Many of the reported cases have been associated with congenital @DISEASE$, especially @PHENOTYPICFEATURE$.	false
+c53d07275c2481a64229e1ae029ee35eba2ee88f	A syndrome of @PHENOTYPICFEATURE$, birth defects, myelodysplasia and @DISEASE$ in three sibs of consanguineous parents.	false
+cd3ddd9fc4b59ad42a289900ac4c07a37fb7778f	[@PHENOTYPICFEATURE$, optic nerve atrophy and Pelger-Hu?t anomaly syndrome with antibody @DISEASE$ and aplastic anemia: a case report and literature review].	false
+8e748ff42ea8d1db106b2d017eb67e88b0bd62e2	[Short stature, @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with antibody @DISEASE$ and aplastic anemia: a case report and literature review].	false
+8f4cf48cd244bd9477a79302fc6a4806a0195ae5	We report a 20 year old man with short stature, microcephaly, @PHENOTYPICFEATURE$, numerous pigmented naevi, hypodontia, @DISEASE$, and a high pitched voice.	false
+8f784914004f9f144fe6dd4f6559dbcba08f8d3e	We report a 20 year old man with @PHENOTYPICFEATURE$, microcephaly, unusual facies, numerous pigmented naevi, hypodontia, @DISEASE$, and a high pitched voice.	false
+8072a25dd628254027e09dc4ff4f489e928341c5	We report a 20 year old man with short stature, microcephaly, unusual facies, numerous pigmented naevi, @PHENOTYPICFEATURE$, @DISEASE$, and a high pitched voice.	false
+ea8ffb324b6c88991b3327d72635e68a24e5c25c	Polymerase ?1 mutation in a human syndrome with @PHENOTYPICFEATURE$, @DISEASE$, livedo, and short stature ("FILS syndrome").	false
+07e7790937e187a3d00f6de7c9a502c5f6ee0538	Polymerase ?1 mutation in a human syndrome with facial dysmorphism, @DISEASE$, livedo, and @PHENOTYPICFEATURE$ ("FILS syndrome").	false
+3be095a43b53c00788711c4ce38c8ab113f57b1f	It is characterized by @PHENOTYPICFEATURE$, sun-sensitive rash and @DISEASE$.	false
+dc5ad49fb3291b4ae2ea44a295793eb02026309a	Inherited @DISEASE$ in chickens: a model for common variable @PHENOTYPICFEATURE$ in man?	false
+fdcb682b2b30a79ceec6260c7a736727f858e2ef	The patient's youngest brother was found to have similar manifestations of SIOD but of less severity, including short stature, @PHENOTYPICFEATURE$ and typical osseous dysplasia, but no clinical findings suggestive of @DISEASE$ and no chromosomal fragility.	false
+7d17abe2749d35685584c76ad38f68db93b4cd94	The patient's youngest brother was found to have similar manifestations of SIOD but of less severity, including @PHENOTYPICFEATURE$, facial dysmorphism and typical osseous dysplasia, but no clinical findings suggestive of @DISEASE$ and no chromosomal fragility.	false
+031a64e4e82df8e0cdedd2535093d98b58cc90b3	Good's syndrome (GS) is a rare combination of thymoma and @PHENOTYPICFEATURE$, resulting in @DISEASE$.	false
+9f209a8150eefbc0fcdaf0f2f8b735de34c7955f	Thus, it has been experimentally proven, in vivo and in vitro that it is effective to treat certain allergies, anemia, cancer, hepatotoxicity, viral and cardiovascular diseases, @PHENOTYPICFEATURE$, hyperlipidemia, @DISEASE$, and inflammatory processes, among others.	false
+635a7ff5624f464c80ab4cc35924435e42fb1eb7	Thus, it has been experimentally proven, in vivo and in vitro that it is effective to treat certain allergies, anemia, cancer, hepatotoxicity, viral and cardiovascular diseases, hyperglycemia, @PHENOTYPICFEATURE$, @DISEASE$, and inflammatory processes, among others.	false
+e90c7854e949dd15a1c21345b0aafa1d9ba464e0	However the prevalence of some malformations such as Down syndrome, @PHENOTYPICFEATURE$, anotia-@DISEASE$, syndactyly and cleft palate have increased.	false
+3051810af664152884416e76b6beaa95370acc12	A total of 199 ears with congenital @DISEASE$ and aural atresia and 25 ears with canal stenosis without microtia were identified, all of which had been previously evaluated by high-resolution computed tomography of the temporal bone, and then assigned @PHENOTYPICFEATURE$ score.	false
+7d589be6083525bd72b7d9722e660ad8f0da1cce	Coronary artery disease (@DISEASE$) is the most common cardiovascular disease while atrial fibrillation (AF) is the most common @PHENOTYPICFEATURE$.	false
+39e87857c9a6cb3c39bf85f9abcb78014bb0c033	Risk factors included those for cardiac and atherosclerotic disease: coronary artery disease (@DISEASE$), valvular disease, smoking, @PHENOTYPICFEATURE$, hypertension, or diabetes mellitus.	false
+2c5fe61da0a709666cb7c5849b91811100332c2b	The purpose of this study was to evaluate the frequency and type of @PHENOTYPICFEATURE$ in patients with chronic @DISEASE$.	false
+37755ee7904326f87a426c85f1c061e0c40d8b34	Optimal therapeutic and lifestyle interventions for @DISEASE$, HF, @PHENOTYPICFEATURE$, cancer, diabetes, and arthritis may improve early clinical outcome.	false
+b4bf1c4369c3ad89347ea394a7b450412966f60f	Implantable and external devices for heart @PHENOTYPICFEATURE$ and @DISEASE$ early diagnostics are extensively used in modern cardiologic praxis.	false
+1867f06e63a356430a3788e00ea6aa244c132e37	After accounting for the competing risks of death, there was a higher risk of arrhythmia and CAD during a three year follow-up period (adjusted SHR = 1.50 for @PHENOTYPICFEATURE$; adjusted SHR = 1.10 for @DISEASE$).	false
+8cb4154d1fc71526b8c6c3c47d3a17ebc201a955	After accounting for the competing risks of death, there was a higher risk of @PHENOTYPICFEATURE$ and @DISEASE$ during a three year follow-up period (adjusted SHR = 1.50 for arrhythmia; adjusted SHR = 1.10 for CAD).	false
+fba8a95e9699d9f022b9de740ba540f299f598ad	After accounting for the competing risks of death, there was a higher risk of @PHENOTYPICFEATURE$ and CAD during a three year follow-up period (adjusted SHR = 1.50 for arrhythmia; adjusted SHR = 1.10 for @DISEASE$).	false
+eafa5704cdbee7bc8c7c76fef6e09dd9ee0e734d	After accounting for the competing risks of death, there was a higher risk of arrhythmia and @DISEASE$ during a three year follow-up period (adjusted SHR = 1.50 for @PHENOTYPICFEATURE$; adjusted SHR = 1.10 for CAD).	false
+705a52c905375c5f9f90659cf4f9fe9f84a1500e	Chronic actinic dermatitis (@DISEASE$), a @PHENOTYPICFEATURE$ dermatosis, is characterized by inflammatory lesions, especially on sun-exposed skin.	false
+79ebc6b27b7c37bfc71f589b246bdb91320e69bd	Matched patients with @DISEASE$ had no significant differences in complication rates, with 2.2 and 5.8% of CAD patients experiencing a postoperative myocardial infarction or @PHENOTYPICFEATURE$, respectively.	false
+e968a5c8296ca3ab0e8ac33c588e3fb22eee2fe8	Matched patients with CAD had no significant differences in complication rates, with 2.2 and 5.8% of @DISEASE$ patients experiencing a postoperative myocardial infarction or @PHENOTYPICFEATURE$, respectively.	false
+ea06115c895e4102ebba1c27a3e9b56511309a26	Subjects with @DISEASE$ history, hyperthyroidism, pitting @PHENOTYPICFEATURE$, or subjects taking diuretics or thiazolidinedione were excluded.	false
+465762a1cf3602c17f3e6556d33057eced270978	Obstructive @DISEASE$ requiring revascularization was present in 87.7% of @PHENOTYPICFEATURE$-positive patients versus 25.8% of edema-negative patients (p < 0.001).	false
+1b004cca91544e6883bf4b7055209a92962f11ec	Obstructive @DISEASE$ requiring revascularization was present in 87.7% of edema-positive patients versus 25.8% of @PHENOTYPICFEATURE$-negative patients (p < 0.001).	false
+246d140b404cebbcfbefef2be53c8bdda9e5d410	patients, @PHENOTYPICFEATURE$ in 2 (3.17%) patients, and a variety of other diagnoses ranging from varices to ulcers (due to @DISEASE$ and amyloidosis).	false
+e533393213450ab30fe585769f31dbc78b0ea701	The connection between plasmin-dependent fibrinolysis, vascular patency, and tumor growth was further substantiated as the effect of plasminogen deficiency on @PHENOTYPICFEATURE$ growth could be reverted by superimposing heterozygous @DISEASE$ on Plg(-/-) mice.	false
+ce7b740e6fe41f4441b372dad4d047c48fe31f3a	The connection between plasmin-dependent fibrinolysis, vascular patency, and @PHENOTYPICFEATURE$ growth was further substantiated as the effect of plasminogen deficiency on tumor growth could be reverted by superimposing heterozygous @DISEASE$ on Plg(-/-) mice.	false
+fd0e35be76db9a94b37eb64dbe85dcd9537088ec	In this study, we retrospectively analyzed data from patients who underwent surgical removal of intracranial @PHENOTYPICFEATURE$ in Beijing Tiantan Hospital date from 1/1/2013to12/31/2013. The present study found that patients with postoperative @DISEASE$ experienced more operative blood loss and a higher rate of postoperative intracranial hematoma, and they were given more blood transfusions, more plasma transfusions, and were administered larger doses of hemocoagulase compared with patients without postoperative fibrinogen deficiency.	false
+e83294d4171b31d2a35485ec7d1a86dcc26051e1	@DISEASE$ was found to have no effect on the time required for the formation of palpable @PHENOTYPICFEATURE$, tumor angiogenesis, overall tumor architecture, or primary (s.c.) or secondary (pulmonary) tumor growth.	false
+5a2bb40de0960e6281b2858df5a677abb88e57a3	@DISEASE$ was found to have no effect on the time required for the formation of palpable tumors, @PHENOTYPICFEATURE$ angiogenesis, overall tumor architecture, or primary (s.c.) or secondary (pulmonary) tumor growth.	false
+a42ad2cacd21d1f0e23b40a697790bd950ff09de	@DISEASE$ was found to have no effect on the time required for the formation of palpable tumors, tumor angiogenesis, overall @PHENOTYPICFEATURE$ architecture, or primary (s.c.) or secondary (pulmonary) tumor growth.	false
+c536b76694b26e515481f52753c773807c1c6dfe	@DISEASE$ was found to have no effect on the time required for the formation of palpable tumors, tumor angiogenesis, overall tumor architecture, or primary (s.c.) or secondary (pulmonary) @PHENOTYPICFEATURE$ growth.	false
+05be7455ce275bb358e352ef4be018251e9e5c1d	@DISEASE$ (HD) is a @PHENOTYPICFEATURE$ disorder, characterized by severe degeneration of basal ganglia neurons.	false
+c71353c8d26cbc2e12fb80bb74a378ab27c7470d	@PHENOTYPICFEATURE$ and severity of @DISEASE$.	false
+b32907b271d7a5afe6e018882c9d131670a02830	Therapeutic strategies for circadian rhythm and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+719cfaf78661a3ac3c002d90a261d31c557bef0b	Rapid eye movement @PHENOTYPICFEATURE$ in @DISEASE$.	false
+89945a4c901591c59b357e1ae52547dc0bcde4b1	@DISEASE$ is a @PHENOTYPICFEATURE$ disease, caused by a polyglutamine expansion in the huntingtin protein.	false
+3cac151b49748c13c7ac0d7e8a37a51dea503d80	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder, characterised by motor, cognitive, and behavioural deficits.	false
+2e64f1bbce35a01698044389d4d3658f7ccb50fa	Daytime somnolence and nocturnal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1187c1ce11b67b158d98e683dc2397999d2efd2c	@DISEASE$ (HD) is a @PHENOTYPICFEATURE$ movement disorder.	false
+7bfe650d97cddfd34a9b0e747feedd500634b18b	An inherited, chronic @PHENOTYPICFEATURE$ disorder is @DISEASE$, characterized by motor, cognitive, and psychiatric symptoms.	false
+25e7a0a09881b47a46eb3c1b8863da5c29c7d461	Identifying @PHENOTYPICFEATURE$ in @DISEASE$ using a simple disease-focused questionnaire.	false
+a2791c673760dd84179562727a926240e2089c68	The LEB has been associated with numerous syndromes including Rubinstein-Taybi syndrome, Cenani-Lenz @PHENOTYPICFEATURE$, isolated oligosyndactyly, and @DISEASE$.	false
+3e6606d7b22ac63c3925793d02474de70ce74dbd	The association of IPH and @DISEASE$ is very rare; to the best of our knowledge, only five cases of MCTD, associated with pulmonary @PHENOTYPICFEATURE$ (PH), have been reported.	false
+293b8a466c5f7d08fd20585cb776b7e4a84ebd60	With careful monitoring and management of DED and concurrent ocular surface disease, @PHENOTYPICFEATURE$ surgery generally has good visual outcomes in patients with @DISEASE$.	false
+eb3e2872524f1dce1508a6828f272e14facf3113	The occurrence of cataracts, @PHENOTYPICFEATURE$ surgery, and its outcomes were analyzed in the medical records of 229 patients (458 eyes) with ocular @DISEASE$.	false
+1eb2e5be43ce3a3dbb90907dfb4770bd3f6db500	The occurrence of @PHENOTYPICFEATURE$, cataract surgery, and its outcomes were analyzed in the medical records of 229 patients (458 eyes) with ocular @DISEASE$.	false
+330a44ac8ed3fbcb97b0fa9d8cfb73b83fe5f599	Neither treatment with steroids for 6 months or longer nor history of chronic graft versus host disease (@DISEASE$) influenced @PHENOTYPICFEATURE$ development.	false
+47839ba0e1f819887427367b0a49f2202d424ce0	The incidence of graft failure was higher and of @DISEASE$ was lower in Group 2 than in Group 1. Relapse of @PHENOTYPICFEATURE$ occurred more frequently in patients in Group 2 than in Group 1 (17 v. 2, P less than 0.001).	false
+c91849fe33bace9fe0b6b1b50bdfe1f1b32677fd	Oral manifestations most strongly associated with chronic @DISEASE$ included atrophy and erythema or lichenoid lesions of the buccal and labial mucosa and oral @PHENOTYPICFEATURE$.	false
+e469491812ae5e226252be4e0c5f3730e7cd5cc5	With aggressive management of dry eyes and other ocular surface problems, @PHENOTYPICFEATURE$ surgery had excellent outcomes in patients with @DISEASE$.	false
+fe6f35631abaa1ea6924e1321c7e20064ea8a2c5	None of the BM recipients showed clinical signs of graft-versus-host disease (@DISEASE$) (diarrhea, @PHENOTYPICFEATURE$, hunched back, etc.).	false
+5531c4299b1bbc78661ad050edd4b109eb7494d2	To report a case of severe ocular graft-versus-host disease (@DISEASE$) after @PHENOTYPICFEATURE$ surgery.	false
+043f895a113d5f395a76bdbe076c2530456f2d2e	This retrospective study comprised 12 @PHENOTYPICFEATURE$ surgeries in 7 patients with @DISEASE$) after allogeneic bone marrow transplantation.	false
+8bff0110f20b566eb120efa99c0fc0b9e6fc56fa	We report a case of a graft-versus-host disease (@DISEASE$) in a patient with non Hodgkin Lymphoma who received multiple blood transfusion for @PHENOTYPICFEATURE$ and thrombocytopenia.	false
+0d4f8a0ecd3c8a3dc9d43cfc61601c907aa3e219	These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, @PHENOTYPICFEATURE$, @DISEASE$ type 1, Duane retraction syndrome, and pontine tegmental cap dysplasia.	false
+396dc04131da28cb473bcb96a7266231d1fc2f5f	Individuals harbouring this mutation were previously reported to have @DISEASE$, facial weakness, developmental delay and possible @PHENOTYPICFEATURE$.	false
+0505f9e64c8ec4312aec2ae047e0aab008e47cbe	In summary, we define a specific heterozygous COG4 substitution as the molecular basis of @DISEASE$, a rare @PHENOTYPICFEATURE$ distinct from biallelic COG4-CDG.	false
+fb19dccddbb01a67444f23306ad954bb80010142	@PHENOTYPICFEATURE$ and expression of pro-angiogenic factors are observed in @DISEASE$ (IBD).	false
+79c6406c554c9049d5f250098167f3148e403b99	@PHENOTYPICFEATURE$ and expression of pro-angiogenic factors are observed in inflammatory bowel diseases (@DISEASE$).	false
+ca4903ca55c9dee928061ed69b147a9e34568189	Human TGF-?1 deficiency causes severe @DISEASE$ and @PHENOTYPICFEATURE$.	false
+30422579a07c3d5f462a88d1a781c24869978319	We showed a significantly increased blood vessel density in @DISEASE$ and dextran sulfate sodium @PHENOTYPICFEATURE$.	false
+4a35997ea8904f71d33997d0815e04422925cba7	@PHENOTYPICFEATURE$ was more common in @DISEASE$ patients (84.0% vs. 35.1%;	false
+f056842ac0cba70dbf3554ec3152768843997fd5	@PHENOTYPICFEATURE$ and colonic mucosal inflammation suggestive of @DISEASE$ (IBD) have been reported in JP/HHT.	false
+4d537d8167d83ac8003eaa84111e4c219b735b48	@PHENOTYPICFEATURE$ and colonic mucosal inflammation suggestive of inflammatory bowel diseases (@DISEASE$) have been reported in JP/HHT.	false
+cb5c782184855285542cec40e0811ce59def8779	AA amyloidosis is a potential cause of @PHENOTYPICFEATURE$ and mortality but little is known of the natural history of this condition in @DISEASE$.	false
+1ab6e2f4dbcfbdae721782f914365529072e84fc	Pediatric-onset @PHENOTYPICFEATURE$ and inflammatory bowel disease (@DISEASE$) have significant effects on the growth of?infants and children, but the etiopathogenesis underlying disease subtypes remains incompletely understood.	false
+82ffb058066858b7fde36be7d7474327d6f002ce	@PHENOTYPICFEATURE$ colitis and inflammatory bowel disease (@DISEASE$) have significant effects on the growth of?infants and children, but the etiopathogenesis underlying disease subtypes remains incompletely understood.	false
+76fac36caaa898d6199955ea628a0e4112bcd02e	@PHENOTYPICFEATURE$ colitis and @DISEASE$ (IBD) have significant effects on the growth of?infants and children, but the etiopathogenesis underlying disease subtypes remains incompletely understood.	false
+6b1201a8b8bfd79bb52d708f79f86476216b954a	Pediatric-onset @PHENOTYPICFEATURE$ and @DISEASE$ (IBD) have significant effects on the growth of?infants and children, but the etiopathogenesis underlying disease subtypes remains incompletely understood.	false
+f5e66e596fc9ca74c7fe41597d90e55299263eb8	Among them were: suspicion on diffuse polyposis, @PHENOTYPICFEATURE$, lymphangiectasia and @DISEASE$.	false
+520df8523f3c081c65124dab84b151a2f10d0297	@PHENOTYPICFEATURE$ and expression of proangiogenic factors have been repeatedly reported in inflammatory bowel disease (@DISEASE$).	false
+f2756c62766ff440f5843a5b44710aa73d78af1a	@PHENOTYPICFEATURE$ and expression of proangiogenic factors have been repeatedly reported in @DISEASE$ (IBD).	false
+c8dbee5f38149b22bf899ba9e120d8226ccb08af	The pathological examination of surgical specimens excluded @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d97908e277ac5adc87bd6643d7610dbb8a7e9fb8	@DISEASE$ (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinal @PHENOTYPICFEATURE$.	false
+c34938c24a57143c889810c552684a5e7e57bf31	Univariate analysis revealed lower survival in patients with associated acute respiratory distress syndrome, ventricular septal defect (@DISEASE$), birth weight (BW) < 1500 g, gestational age (GA), time of operation within 24 h of admission, coexisting @PHENOTYPICFEATURE$, imperforate anus, African American race, and lowest economic status.	false
+c4d754710bb989c667141727ba3d35d98ecbb474	Univariate analysis revealed lower survival in patients with associated acute respiratory distress syndrome, @DISEASE$ (VSD), birth weight (BW) < 1500 g, gestational age (GA), time of operation within 24 h of admission, coexisting @PHENOTYPICFEATURE$, imperforate anus, African American race, and lowest economic status.	false
+66083648d5366de802ec5593f78b52662ee9f218	At birth he had macrocephaly, widely open metopic suture, ocular hypertelorism, @PHENOTYPICFEATURE$, apparently low-set ears, cerebellar vermis hypoplasia and ventricular septal defect (@DISEASE$) with pulmonary hypertension.	false
+ce5ae993ccad1e9e68f65780f8a21e3a8de71c6c	At birth he had macrocephaly, widely open metopic suture, ocular hypertelorism, cleft palate, apparently low-set ears, @PHENOTYPICFEATURE$ and ventricular septal defect (@DISEASE$) with pulmonary hypertension.	false
+9b6bfa55c2d66ee8c9a161a51b8e6750a32df896	All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+13aa8dfb32327794d87b5d2cdf0c76c895949b77	He presented with many of the common features of the syndrome, such as @PHENOTYPICFEATURE$, macroglossia, post-axial polydactyly, "coarse" facial features, and @DISEASE$ (VSDs).	false
+7a7f09ec00a8c41e831bf4798e4e5bdb0acc7a2b	deletion syndrome, including @DISEASE$, @PHENOTYPICFEATURE$, speech and motor delays, attention deficits, mood lability, and psychosis.	false
+158f502badbd346c63b212e66b81d34a5eb3cd21	Sonographic findings included growth retardation, micrognathia, ventricular septal defect (@DISEASE$), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and @PHENOTYPICFEATURE$.	false
+0240eb7058850643b6d57eee0ae547232e358e2b	The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, @PHENOTYPICFEATURE$, micrognathia, aortic coarctation and @DISEASE$ and hydronephrosis.	false
+964b1fc2e5975146300c0f7caa0501b022fb860b	The echocardiographic parameters of left heart @PHENOTYPICFEATURE$ and MR in children with @DISEASE$ improved within the first year after surgical closure without additional mitral valve repair.	false
+488e04aafaa8c7fe79096b53538699984b56ac71	Some of the tertiary monosomic offspring, which died in the early extra-uterine life, demonstrated @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2f1b9aa0b8f0b4b20f88d835d1a98b9f6ce5610e	In this study, the relation between @PHENOTYPICFEATURE$ left heart chambers, measured by echocardiography, and left-to-right ventricle shunting, quantified by cardiac catheterization, was evaluated in patients with isolated @DISEASE$.	false
+8792eb8a68014b53c6146a251c8aaa9bf83cf70c	A 55-year-old woman with extensive retinal crystalline deposition secondary to @DISEASE$ presented with bilateral @PHENOTYPICFEATURE$ secondary to oxalate retinopathy.	false
+11cc2ddca83dbc05592b97e47fd2b9ac91bf3231	@PHENOTYPICFEATURE$ and late-onset muscle weakness caused by a @DISEASE$ with unusual histopathological features due to a novel missense mutation in FLNC.	false
+e19981e984d9519af4e3ab96b045805920c2597f	@DISEASE$, leukemia/@PHENOTYPICFEATURE$, renal cell carcinoma, and hematopoietic stem cell transplantation are commonly associated with the development of AKI.	false
+27deebea7f3f5e764036000cf007f83a99d106ed	The macular edema and macular detachments along with nonspecific complaints of confusion, muscle @PHENOTYPICFEATURE$ pain, and weight loss were the presenting signs and symptoms; signs typically used as guides to initiate treatment for @DISEASE$ were not present.	false
+08ceee1985ff8fc7b0f262c07114016affaa7177	Whole-body MR imaging (WB-MR imaging) has become a modality of choice for detecting bone metastases in multiple cancers, and bone marrow involvement by @DISEASE$ or @PHENOTYPICFEATURE$.	false
+c52b646d008cc926f8609b9a916c0b5027ff4dfb	Generalized planar xanthomata associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c86f193e36c74e77e87a58057f514784dd85cb68	An antibodylike paraprotein has been isolated from a patient with @DISEASE$ and autoimmune @PHENOTYPICFEATURE$.	false
+aa805c75541a4f707f2d64e6c45c3a366f3aadba	It is important to consider this association as part of the differential diagnosis of a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+235cc71b98c81ed53b76c3718c578391bc121c4f	Outcome of patients with @DISEASE$ and @PHENOTYPICFEATURE$ during high-dose chemotherapy.	false
+3edd7daaac99ad6635379cf4855c1d99792685c8	Blood pressure has been reduced in cases of cirrhosis of the liver, chronic alcoholism, congestive heart failure, @PHENOTYPICFEATURE$, hypothyroidism, and @DISEASE$.	false
+25ff30b6e46e0637bc195f4df930bb1870257fe7	Phase I Study of the Novel Investigational NEDD8-Activating Enzyme Inhibitor Pevonedistat (MLN4924) in Patients with Relapsed/Refractory @DISEASE$ or @PHENOTYPICFEATURE$.	false
+ebdcda2634c06d8b0768472a92f6d5de66909dd4	The association between @DISEASE$ and @PHENOTYPICFEATURE$ and other autoimmune diseases has been established, but it is not clear why a B-cell proliferation like myeloma occurs more rarely than other B-cell disorders in patients with SS.	false
+b44576f3379aa72e875d9ff465246088526d7631	The association between multiple myeloma and @PHENOTYPICFEATURE$ and other autoimmune diseases has been established, but it is not clear why a B-cell proliferation like @DISEASE$ occurs more rarely than other B-cell disorders in patients with SS.	false
+57d2abfb27a0b8e704faa95b22596b9fe66b53c1	@DISEASE$ (FCMD), characterized by @PHENOTYPICFEATURE$ associated with cortical migration defects, is an autosomal recessive disorder caused by mutation in the fukutin gene.	false
+a2c2842b36d67300b74ee1a17461288ebecee336	Fukuyama congenital muscular dystrophy (@DISEASE$), characterized by @PHENOTYPICFEATURE$ associated with cortical migration defects, is an autosomal recessive disorder caused by mutation in the fukutin gene.	false
+7ff1b0ad1e5de4e6712bee93800f93146be7c635	For respiratory management, it is important to regularly evaluate respiratory function in @DISEASE$ patients over 10 years of age, since @PHENOTYPICFEATURE$ and insomnia often mask the signs of respiratory dysfunction.	false
+a486a8111b3a8ac6015376be9b045d787824abf5	We emphasize that it would be of great benefit to examine hair shafts in other patients with keratitis ichthyosis @PHENOTYPICFEATURE$ syndrome for @DISEASE$-like abnormalities.	false
+6709bd4d219b4b3df0b7c71a1fc33602480b1755	@DISEASE$-like hair abnormalities in a child with keratitis ichthyosis @PHENOTYPICFEATURE$ syndrome.	false
+27aaeec1284f1c460ff1060b78d99b1dab5264fd	Prior to 22 weeks, determination of AF-DE contributes to the prediction of @PHENOTYPICFEATURE$ or the presence of @DISEASE$.	false
+24ea8f40fdb1364b4e78b11581c55980561e3850	@DISEASE$ presenting with neonatal cholestasis simulating @PHENOTYPICFEATURE$ in a patient with a novel mutation.	false
+e57bb541476ce4c13d06aaa418890ea256b66005	Herein, the authors report a 63 d-old boy with @DISEASE$ presenting with neonatal cholestasis mimicking @PHENOTYPICFEATURE$.	false
+4a3d7d333e6b6aa200f9f0abcf3cd1dbfbf17ec1	@DISEASE$ transmembrane conductance regulator potentiation by ivacaftor is a novel therapeutic approach for @PHENOTYPICFEATURE$.	false
+89559b60ee12989fa85ab352859576edff56c90c	The effect of alpha tocopherol on creatinuria in patients with @DISEASE$ of the pancreas and @PHENOTYPICFEATURE$.	false
+8bed0e0ed0a9c147de68c1a879217ad04fc23e57	In fetuses with non-isolated NVFGB, the incidence of @DISEASE$ and @PHENOTYPICFEATURE$ was 23.1% and 18.2%, respectively.	false
+ec44383c46a3f03b57c9504a4e7f10f0ca84e50d	@DISEASE$ mistaken for idiopathic @PHENOTYPICFEATURE$.	false
+85e4e061814415e88730c1d71252363f77a18f44	The pathologies included neuromuscular diseases, genetic syndromes, nesidioblastosis, @PHENOTYPICFEATURE$, hematologic, respiratory (@DISEASE$) and cardiac disorders.	false
+e1eef0c51de7671005a734683ccfaca451086131	@DISEASE$, @PHENOTYPICFEATURE$, Alagille syndrome and progressive familiar intrahepatic cholestasis are cholestatic conditions in children.	false
+3372eb3d567b9a5ec09dae723231a5a5e66d41a1	Secondary pediatric nonneoplastic HOA is associated with @DISEASE$, congenital heart disease, @PHENOTYPICFEATURE$, and inflammatory bowel disease.	false
+d3a508497988769ba3f5c8a7a2727e893718b6b3	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and @DISEASE$.	false
+f8d302167fe5d00e06d32d30ee33eb8666ac2081	An irradiation field size (0.5-1 sm from visible @PHENOTYPICFEATURE$ limits) and @DISEASE$ were determined by a stage of disease and infiltration depth.	false
+512106ccbae891943087e2664856d2e3bc5841ba	The effects of @DISEASE$ on QOL, plasma alanine aminotransferase (ALT) level, cardiac function, left ventricular ejection fraction (LVEF) and @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) level were studied.	false
+ff06793034a3faa7cbe27092693535b28e36f644	Formulas to calculate radiation exposure to the film, and the desired @DISEASE$ were based on patient @PHENOTYPICFEATURE$ dose, calculation of the exit dose, and the inverse cube relationship.	false
+6a1055248e0919712f116ec3cc725be4c1e873f7	Furthermore levels of hepatic lipid peroxidation were decreased in the @PHENOTYPICFEATURE$ groups treated with fish oil and SMOF compared to the @DISEASE$ group.	false
+0d9bfb95a84f29f09fc2097e50b4c95f30b74124	A table of exposure techniques based on the @DISEASE$ for a given @PHENOTYPICFEATURE$ dose was evaluated and compared to conventional techniques.	false
+2ff782becc22aa26161522830293269d8660d9a8	Final diagnoses included @PHENOTYPICFEATURE$ (16), small-for-dates (@DISEASE$) infant without any abnormalities (seven), chromosomal abnormality (three), pyruvate dehydrogenase complex deficiency (one), Marden-Walker syndrome (one), and suspected Freeman-Sheldon syndrome (one).	false
+e93dd232ecda64ae490afb4ad9d0c3f783fd1c27	At the 1st stage the summary focal dose (@DISEASE$) was 40 Gy, temperature in a @PHENOTYPICFEATURE$ was 42-44 degrees C, interval 3-4 weeks.	false
+a2f2cfc45ee4b66fcf1566e08e1abf6c02672287	Although the film has a high contrast, there is enough latitude that excellent films can be achieved using a fixed @DISEASE$ based simply on the @PHENOTYPICFEATURE$ dose and beam energy.	false
+b2701f937c3d7c59c3cd166a4a0ac9daf7a2043b	All cases were divided on the basis of the final diagnoses into three groups: @PHENOTYPICFEATURE$ (16 fetuses), @DISEASE$ and healthy infant (eight fetuses) and others (six fetuses).	false
+c31e557c0a0455cb6d7ad40464df3123e15a29a9	The incidence of liver metastasis was decreased in the FISH-OIL @PHENOTYPICFEATURE$ group compared to the @DISEASE$ and SMOF groups.	false
+58990e083b61b7a1423a15b93faa3b44cdb3c0de	?CSF may provide an earlier and more sensitive indicator of @PHENOTYPICFEATURE$ severity across a broader dynamic range than @DISEASE$.	false
+b1cf688e7cf97883a55bbbea575e2f39968ebb4f	?CSF correlated strongly with @DISEASE$ at peak @PHENOTYPICFEATURE$ (r?=?-0.75), even adjusting for infarct volume (p?=?0.009).	false
+1e4fc308b46ffd6d8519c3fbaa1012bc2b37a2bb	Percentage change in CSF volumes (?CSF) from baseline to FU scans was correlated with MLS and compared in those with vs. without malignant @PHENOTYPICFEATURE$ (defined as hemicraniectomy, osmotic therapy, or death/neurological deterioration with @DISEASE$ ?5?mm).	false
+9a0f3de3e34fa79a1e1c8a7f3bb98d0d561e3dd2	Percentage change in CSF volumes (?CSF) from baseline to FU scans was correlated with @DISEASE$ and compared in those with vs. without malignant @PHENOTYPICFEATURE$ (defined as hemicraniectomy, osmotic therapy, or death/neurological deterioration with MLS ?5?mm).	false
+677c65c1c58ed70dc872fe7b43cb1093f7dcd7ee	Values of @DISEASE$ showed two peaks, the first between day 2 and day 5 and the second between day 12 and day 14, indicating that @PHENOTYPICFEATURE$ progresses not only during the acute but also during the subacute phase.	false
+b7ab4064c799ffba178ea0f15a08fb456496bcab	In addition, H. pylori-negative group showed significant changes in @DISEASE$ score (p = 0.0247) and @PHENOTYPICFEATURE$ score (p = 0.0154) after the treatment compared to those before treatment in the test group.	false
+49af678d835c6440d22f47cc4bf6f179cd2f0fe2	The present experimental study was designed to determine the relation between @DISEASE$, absolute @PHENOTYPICFEATURE$ volume, lesion size, and clinical findings in a rat stroke model.	false
+07c37806c6eb82f59731be7ac8ab6a757927298e	Downregulation of?the COX7B ortholog (cox7B) in medaka (Oryzias latipes) resulted in @PHENOTYPICFEATURE$ and microphthalmia that recapitulated the @DISEASE$ phenotype and demonstrated an essential function of complex IV activity in vertebrate CNS development.	false
+fc64ba8b987efe649f0c91f5ee8a8fa0ebae77d2	Midline shift (@DISEASE$) is a standard but crude measure of @PHENOTYPICFEATURE$ severity.	false
+e567df299df168de214b781813c2f418a0babb6e	Volumetric CSF analysis reliably quantifies CED and distinguishes those with malignant @PHENOTYPICFEATURE$ and @DISEASE$ from those with a more benign course after LHI.	false
+697c13af9b5b5bf4c9bfcade9ae290bf658c5a1e	Spontaneous intracerebral hemorrhage (ICH) and the evolution of subsequent perihemorrhagic @PHENOTYPICFEATURE$ lead to midline shift (@DISEASE$), which can be assessed by transcranial duplex sonography (TDS).	false
+b9922a1ed3385493c1fb7523d2c821f372ac8270	Five @DISEASE$ patients had sensorineural hearing loss strongly associated with +ve antiphospholipid antibody and two had @PHENOTYPICFEATURE$.	false
+3ee26934037c2cf0d413120b7f5e90f4dae6d78f	Five @DISEASE$ patients had @PHENOTYPICFEATURE$ strongly associated with +ve antiphospholipid antibody and two had conductive hearing loss.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0478b938d70cbf354832800ea6c067e0a82332d3	To describe @PHENOTYPICFEATURE$ in patients with @DISEASE$ (SLE).	false
+78dc014913fd2f030ac6f0a4afa08af38649d5a1	Venous stasis ulcers due to primary, isolated deep @PHENOTYPICFEATURE$ in a patient with @DISEASE$: report of a case.	false
+874f325856389f653d6cc0b5f6883856891b642a	@PHENOTYPICFEATURE$ and regurgitation with @DISEASE$ and antiphospholipid antibody syndrome.	false
+35d011ca98f7d07ede9966202ac0439c1f1d22d3	@DISEASE$ was present in association with chorea, @PHENOTYPICFEATURE$, and renal thrombotic microangiopathy.	false
+a9cd3c2f8c139741f08ac3ca304ea38d2b52abef	@PHENOTYPICFEATURE$ (Davies disease) coincidental with @DISEASE$.	false
+febfab1a2e4a8493889887cb26de7016908a55e6	@PHENOTYPICFEATURE$ after cortical hyperintensities in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+58fd26723b67b64d55c09992141f7be0598d0d99	Children with severe @DISEASE$ pattern are at high risk of ID or epilepsy and children with kernicterus pattern are at risk of @PHENOTYPICFEATURE$ or ID.	false
+4974289eccbdda20437aa29f1f9f51866ac4280a	A 2-year-old Omani child with @DISEASE$ (HIES) had a 5-week illness characterized by fever, @PHENOTYPICFEATURE$ and acute mitral regurgitation.	false
+b819b06a848ebfb29e1a0a3e7d84f875d1a4a3d3	A 2-year-old Omani child with hyperimmunoglobulin E syndrome (@DISEASE$) had a 5-week illness characterized by fever, @PHENOTYPICFEATURE$ and acute mitral regurgitation.	false
+173b397b72bc36dc21a17682a1e3c558f1ac562a	Children with severe @DISEASE$ are at high risk of intellectual disability (ID) or epilepsy and children with a kernicterus pattern are at risk of @PHENOTYPICFEATURE$ and/or ID.	false
+f2af6ad576bd77be4bc55237212496a318a8ce7c	Since catalase activity in cell lines transformed in vitro is not as weak as activity observed in cell lines isolated from @PHENOTYPICFEATURE$, @DISEASE$ may follow the successive steps of tumor progression.	false
+7341a6213e017bbfe5a0fdf977df200042f8e171	Since catalase activity in cell lines transformed in vitro is not as weak as activity observed in cell lines isolated from tumors, @DISEASE$ may follow the successive steps of @PHENOTYPICFEATURE$ progression.	false
+dc66ab7a4421ec8803c7a0b0d0353134d804f56e	Decreases in catalase activity in patients with @PHENOTYPICFEATURE$ is more likely to be due to decreased enzyme synthesis rather than to catalase mutations.Acatalasemia, the inherited @DISEASE$ has been detected in 11 countries.	false
+22db669966d180c0df913f009735a043fb370d11	An inverse relationship appears to exist in the two types of @PHENOTYPICFEATURE$ cells (which are both @DISEASE$) between the extent of cellular damage brought about by intracellular formation of superoxide anion occurring on reaction with O(2) of the drug free radical and the efficiency of the glutathione-mediated H(2)O(2)-detoxifying system.	false
+81179574cd167536a1e17bd3a17c522944d66639	Interestingly, one of them shows a significant @PHENOTYPICFEATURE$ similar to those present in the @DISEASE$ (OMIM 248300).	false
+2bdb2d90890184445eff3320d8dddbd94f9fac9d	@DISEASE$ (mal de Meleda) MIM *248300 is an autosomal recessive disorder, clinically characterised by transgressive @PHENOTYPICFEATURE$, hyperhidrosis and perioral erythema.	false
+8c25e3e9f1daf93ecf81e58464382e9f7655370c	Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a genetic disorder, cri-du-chat syndrome (@DISEASE$), which is characterized by a cat-like cry in infancy, @PHENOTYPICFEATURE$, microcephaly, and mental retardation.	false
+02e71c9dbcb95845ac19b4c6852a1539d3313787	Patients who had @DISEASE$; type I, III, IV, V, or secondary @PHENOTYPICFEATURE$; diabetes; or evidence of liver or renal impairment were excluded.	false
+3b32c1f2e4d13dba4b53d18f15a7821ee403021c	We describe an 8-year-old child in whom the @PHENOTYPICFEATURE$'s origin had remained undetected and was related to a @DISEASE$, which can be associated with multiple xanthomas of the skin and tendons.	false
+9aa5fbdbc36f2a70e94145aec8478962335f59a2	We conclude that the @DISEASE$ analysis can successfully summarize the correlations between a large number of variables, and that @PHENOTYPICFEATURE$, neck size, and certain cephalometric measurements may be used together to evaluate OSA severity.	false
+0c22546a295dfafa368c5c0ea4713779b33f15d2	Cochlear implantation in children with @PHENOTYPICFEATURE$ less than 12 months of age was associated with better @DISEASE$-AC than in children implanted over 12 months of age up to 2 years after implantation.	false
+e6c88a3a2129199a5b5ebcc53196096e8ca553f4	Perceived life stress (@DISEASE$) and cognitive restraint are associated with increased comfort food intake under stress and lead to weight gain and @PHENOTYPICFEATURE$, but the mechanisms by which they do so remain unclear.	false
+c4e73750ff6edc81c110e5109626cca0dee1f095	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with spastic quadriplegia, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in @DISEASE$ complex deficiency.	false
+3b201698c428745d016de0b567532448b85879bf	Fibroblast cultures from five patients with early onset severe @PHENOTYPICFEATURE$ and lactic acidosis were studied for evidence of pyruvate dehydrogenase (@DISEASE$) deficiency.	false
+edf8e12ecbd0b07854406d29db815707b0e6b399	A 4-year-old girl with @DISEASE$, static @PHENOTYPICFEATURE$, and seizure disorder treated with the ketogenic diet presented in severe diabetic ketoacidosis.	false
+f9456d9a8414037d9e387e08ab27f8f94ee6b0ba	Pyruvate dehydrogenase complex (@DISEASE$) deficiency causes encephalomyopathies, of which there are four major categories: (1) neonatal @PHENOTYPICFEATURE$ with lactic acidosis; (2) an early infantile form, which (3) at times resembles Leigh syndrome; and (4) a later-onset form.	false
+537e77d91b0dec42fa1e4382afe13586496713cb	@PHENOTYPICFEATURE$ and @DISEASE$: an additional component of the syndrome?	false
+b677ee252215f73e6248a35d62c08b8afbd650a3	Although @DISEASE$ may associate with @PHENOTYPICFEATURE$ because cortical cerebellar atrophy is a heterogeneous condition, this association is not clear at present.	false
+a9c4bf3875754c74a31f792d1bb42f15405b5257	To determine the frequency of @PHENOTYPICFEATURE$ patients with autoantibodies for Hashimoto's disease, we analyzed 68 patients who were examined serum test for autoantibodies of @DISEASE$ among 178 cerebellar ataxia patients who visited our neurology clinic from January 2005 until December 2007.	false
+6f39e42c46c18ec7696fdff32e1a48c97309862a	To determine the frequency of cerebellar ataxia patients with autoantibodies for Hashimoto's disease, we analyzed 68 patients who were examined serum test for autoantibodies of @DISEASE$ among 178 @PHENOTYPICFEATURE$ patients who visited our neurology clinic from January 2005 until December 2007.	false
+1f3433a7e1a6b67f91e46929afc5c62b9f1e9265	Six patients with @DISEASE$ (HT) and associated @PHENOTYPICFEATURE$ (HE) are described and compared with 14 well-documented cases retrieved from the literature.	false
+5f46eecef54190280ba0d54fc308ba5aec50b64d	Brain perfusion abnormalities have recently been demonstrated by single-photon emission computed tomography (SPECT) in rare cases of severe @DISEASE$ (HT) @PHENOTYPICFEATURE$; moreover, some degree of subtle central nervous system (CNS) involvement has been hypothesised in HT, but no direct evidence has been provided so far.	false
+3a4362924b1160bad68472224750f4bd878765a0	She presented with failure to thrive, coarse facial features, hepatosplenomegaly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1c01bfafbae5a922a8880a7a804d9f5cd9ddf612	These children had neurological deficits ranging from cortical blindness, spastic diplegia, @DISEASE$ to @PHENOTYPICFEATURE$.	false
+7fc9969f16a6112f2cc2fbf73724b54f733c1e8e	They showed similar clinical courses including oculoclonic @PHENOTYPICFEATURE$, hypsarrhythmia and severe mental retardation, in addition, to @DISEASE$.	false
+2bf63f8f16bad89c6506d501bb4fd3a94fdfc384	They showed similar clinical courses including oculoclonic seizure, hypsarrhythmia and @PHENOTYPICFEATURE$, in addition, to @DISEASE$.	false
+ba16bbc4b1ab6ad96599599a384a89fa9a14437c	However, @DISEASE$ and @PHENOTYPICFEATURE$ remained as sequela.	false
+dd9b6de8829f76c16db64baf43212568ee2d8906	He had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e6da31a794bcea7dfc35ef9196b34d3e420ef4df	We have studied two unrelated girls presenting a static @PHENOTYPICFEATURE$ with @DISEASE$, microcephaly and seizures and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+5a23cb04c51483d45876b14e339e7656c030bb75	We have studied two unrelated girls presenting a static encephalopathy with @DISEASE$, microcephaly and @PHENOTYPICFEATURE$ and in one girl, hypocalcaemia, a new finding in PDH complex deficiency.	false
+00a3fa3060d208827beee3ea75491061dae486e2	Although this patient is currently bed-ridden with @DISEASE$ and @PHENOTYPICFEATURE$, her general condition is quite stable.	false
+c49b7c00af0136fedb3f903264bb860e6fa47aa3	It is characterized by progressive psychomotor delay, nystagmus, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c5c2708b73a1195033b77b116648d6d11e796016	@PHENOTYPICFEATURE$, infantile spasms, @DISEASE$, microcephaly and severe mental retardation in three siblings.	false
+6e59c9944ce2ebbdf3bf108e2aa0c328153a6f6f	Agenesis of the corpus callosum, infantile spasms, @DISEASE$, microcephaly and @PHENOTYPICFEATURE$ in three siblings.	false
+b808f4e1f395c625cf45c8a7a8d5f02673e2f53e	After the recovery from a coma lasting several days, @DISEASE$, @PHENOTYPICFEATURE$ and intractable epileptic attacks were present.	false
+b74ca65df35e4919b89082038218084faeb4e356	The strain of athymic nude male mice (@DISEASE$) developed at the University of Southern California (USC) exhibits spontaneous @PHENOTYPICFEATURE$ and relative hypoinsulinemia in vivo.	false
+65051ef2542762a358e26ef4a2a58f6e5edd108f	These data indicate that single breaks at 11p13 are associated with @DISEASE$, while deletion of 11p13 results in aniridia combined with Wilms tumor, genitourinary abnormalities, and/or @PHENOTYPICFEATURE$.	false
+c775441d010ecddb38ebc3b98e249486ebbd4328	@DISEASE$ (RRS) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+2a3abe12189f812e913f648282332db0e1cfa455	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe skeletal dysplasia with short stature, generalized @PHENOTYPICFEATURE$, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+dd2bdb0ab0caaa496416926980ed422c5b0bad5b	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+4e43e166192d21d789d469b4f3553794e5612da4	Severe @DISEASE$ associated with psychiatric disorders and @PHENOTYPICFEATURE$.	false
+25cf5d06f976bc522782c75ec868d82e62c09dff	A family with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f39e627cdfc184e673e65353e8886f5fdf9a2034	A Korean kindred with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b03f5ad505194f8eedd31821329dbde75ddb94b5	In some, a pattern of nocturnal frontal lobe @PHENOTYPICFEATURE$ led to consideration of the diagnosis of @DISEASE$ (ADNFLE).	false
+aa64eb617a3268f83071ebb0e56d6e18585d03a9	@PHENOTYPICFEATURE$ and enhanced cortical GABAergic inhibition in two mouse models of human @DISEASE$.	false
+4edd5c66743e0ab295da9a4f14f7df0269d3b49a	K-complex-induced @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b57d077f2a62574569a7e7745bea211e41d89f73	The clinical features of @DISEASE$ and concussive @PHENOTYPICFEATURE$ are reviewed.	false
+dbcebe152cf047fec86fab60f48d999e7e16ba73	SePhaChARNS may also underlie two inadvertent therapeutic effects of tobacco use: (1) the inverse correlation between tobacco use and Parkinson's disease; and (2) the suppression of @PHENOTYPICFEATURE$ by nicotine in @DISEASE$.	false
+d69b54b32cf143dda7d85e6c744dcc9404022486	The precise links between the observed gain of neocortical inhibition and development of @PHENOTYPICFEATURE$ in @DISEASE$ mice remain unknown.	false
+992133937fc0a3aef5759d218becebe168e9d2f2	Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including @DISEASE$ (ENFL2; also known as ADNFLE), a syndrome of mental retardation, @PHENOTYPICFEATURE$, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA).	false
+dd2fa3c307f87d46fd17015066149758645cd1dd	Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including @DISEASE$ (ENFL2; also known as ADNFLE), a syndrome of @PHENOTYPICFEATURE$, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA).	false
+1f1359450184033c309f7a2d6745bf9667499a0f	It has been postulated that bone involvement is almost universal in ECD; however, our patient with @DISEASE$ had @PHENOTYPICFEATURE$ and cerebellar involvement without significant bone involvement, as evidenced by bone scan.	false
+97334b138284f4a822174c8efb9d2f0412c83b9d	The authors then compared both @DISEASE$ clusters and evSAM(g2) groups with the resection area and correlated these data with @PHENOTYPICFEATURE$ outcome.	false
+16afe0d99e39965224005ace954d1ce55adbb5a7	-V600E-mutant @DISEASE$ with a classical pyramido-@PHENOTYPICFEATURE$ onset of disease who improved after prompt diagnosis with vemurafenib treatment as first-line therapy.	false
+eb8240175332b79d01192d5e106935b3eb48583f	In medial FLE patients, interictal and ictal MEG indicated consistent @DISEASE$ localization that corresponded to the semiology of clinical @PHENOTYPICFEATURE$.	false
+4e0440c8f9ed772ecb8d0d377e32b571bea3d84f	Case 1 was a 47-year-old man with @PHENOTYPICFEATURE$, dysarthria, and intermittent ophthalmoplegia whose cerebellar biopsy had shown only profuse, nonspecific Rosenthal fiber-rich piloid gliosis; @DISEASE$ was diagnosed only at autopsy.	false
+aeaf457dc24c0d7fab67fbe9a92870afbb7396b8	We report on a 9 year-old boy with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized @PHENOTYPICFEATURE$, limited supination due to radioulnar synostosis, and sloping shoulders, and intermediate @DISEASE$ (AVCD) with aortic coarctation.	false
+f94f920c0b345d7e5d4960ce355ba501d805919c	We report on a 9 year-old boy with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized @PHENOTYPICFEATURE$, limited supination due to radioulnar synostosis, and sloping shoulders, and intermediate atrioventricular canal defect (@DISEASE$) with aortic coarctation.	false
+9b946a9226baeab0e775672eecfdad8cbf4501f9	For the subset of children with TSC who present with early-onset and nonlateralized seizures, MEG studies in which SAM(g2) and @DISEASE$ are used might identify suitable candidates for resection to control @PHENOTYPICFEATURE$.	false
+81c7d6835d3737dc3e203f7150edfc6ee9b40bc8	For the subset of children with TSC who present with early-onset and nonlateralized @PHENOTYPICFEATURE$, MEG studies in which SAM(g2) and @DISEASE$ are used might identify suitable candidates for resection to control seizures.	false
+37295cee37bf066d5139ef255bd6ca45e0b64219	Herein, we report the case of a 64-year-old Tunisian female patient presenting an aggressive form of @DISEASE$ revealed by diabetes insipidus and @PHENOTYPICFEATURE$ with a diagnosis delay of 4 years.	false
+4d53f876f48167b0b2e485112a6579d37762e8ed	We compared GMFT with @DISEASE$, ictal onset zones (IOZ) and interictal zones on IVEEG, and @PHENOTYPICFEATURE$ outcomes.	false
+1e94e9b9bcd38929744b785a4a35131078ec4f0b	Three patients with single @DISEASE$ clusters underwent surgical treatment: two have been seizure free, and one has obtained @PHENOTYPICFEATURE$ reduction of >90%.	false
+a81df22d578621906a08f4015648b77bc2e71789	Three patients with single @DISEASE$ clusters underwent surgical treatment: two have been @PHENOTYPICFEATURE$ free, and one has obtained seizure reduction of >90%.	false
+9fcbdf10db7a1e30278db1168a60cfcafc1215f6	@DISEASE$ is a congenital, generally X-linked dermatosis that associates facial dysmorphy, @PHENOTYPICFEATURE$, and severe blepharitis.	false
+83071cabc48dbaa4be1ca51f2707dec04da40bb7	A 20-month-old boy with @DISEASE$ developed @PHENOTYPICFEATURE$ and papulopustular skin lesions.	false
+22e6b845f818c075f8142ae4b44ad306e42b1fd4	The most striking clinical findings in @DISEASE$ are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of @PHENOTYPICFEATURE$.	false
+badabe8a49368940ccf80c8e9ef29a7f64dc8d59	CONCLUSION: @DISEASE$ syndrome is a rare disorder that must be considered when investigating newborns with recurrent episodes of @PHENOTYPICFEATURE$.	false
+d61180b39a9cb84596f5b56f763c5d4c6aad37a1	Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/@DISEASE$: definition of @PHENOTYPICFEATURE$, molecular characterization and long-term hGH replacement treatment to final height.	false
+0337cb704a2e5a7ac7458735d1146dfa52e6d08a	@PHENOTYPICFEATURE$ and degenerative vitreoretinopathy in a girl with @DISEASE$.	false
+929df5e0495b9b6227409ff44f3c40195a6033fb	@PHENOTYPICFEATURE$ in @DISEASE$ myeloma.	false
+84754591e371d509e6442e5e3e0692a38fecd263	Response to adriamycin and CCNU in a patient with @DISEASE$ multiple myeloma and @PHENOTYPICFEATURE$.	false
+fabb981cd521e5c0cd39faa090ef57a1d1dd5e62	Conclusions These findings shed light on @PHENOTYPICFEATURE$ and poor academic achievement in relation to Lebanese adolescents identified with @DISEASE$.	false
+46a10e067dfd58dec9aa126fdb88561697c914fe	We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with @DISEASE$, coloboma of the iris and eyelids, @PHENOTYPICFEATURE$, and extensive limb malformations.	false
+6a6c59a0f229e00b2c3127d3203296577aba5960	Visualization, quantification and correlation of @PHENOTYPICFEATURE$ with clinical symptoms in @DISEASE$, 3 and 6.	false
+854caa4c79bbacdf5dfa3fcfed3ff214c887c245	Macular degeneration as a common cause of @PHENOTYPICFEATURE$ in @DISEASE$ (SCA1) patients.	false
+58ef3b8f5cc9eccffc31ceb62f8954b5a69f763c	@PHENOTYPICFEATURE$ were suspected in only nine of 33 cases; three of these were associated with @DISEASE$.	false
+1a07053d454174e884cf4e3e65da5b58c9fadf76	Temporary external ventricular drain placement led to complete resolution of the subdural @DISEASE$ and @PHENOTYPICFEATURE$.	false
+992a7f1f196e4e46d2061df479b4121f9c8ed24b	Decompressive craniectomy, interhemispheric @DISEASE$ and @PHENOTYPICFEATURE$: a timeline of events?	false
+0e0f86c5a40b58d062b3549f8cbe999d2cc483d0	Clavicular @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+38c3f73b023f56f94275b52467f8ae248b4f89df	Evaluation of the following conditions is possible: external @PHENOTYPICFEATURE$, cortical atrophy, pyogenic meningitis, subdural hematoma and @DISEASE$.	false
+478e0f320556123eea10b12b420c210ba332a82f	The gross of fetus revealed bilateral cleft lip and palate, hypertelorism, flat nasal bridge, frontal bossing, @PHENOTYPICFEATURE$, low set ears, short neck with @DISEASE$, overlapping fingers, prominent heels, and limited hip abduction.	false
+7bc3add18844ef3cbc4c184390cdb8904b37c60e	The gross of fetus revealed bilateral cleft lip and palate, @PHENOTYPICFEATURE$, flat nasal bridge, frontal bossing, micrognathia, low set ears, short neck with @DISEASE$, overlapping fingers, prominent heels, and limited hip abduction.	false
+ed5358e335dfcb6fd146e7abe6c1db489eac6221	Interhemispheric @DISEASE$ after decompressive craniectomy: does it predict posttraumatic @PHENOTYPICFEATURE$?	false
+76a1f2add675733e85c6a85a93139817a4b2b44d	Chronic subdural hematoma/@DISEASE$, carotid-cavernous sinus fistula, abscess formation, meningitis and @PHENOTYPICFEATURE$].	false
+d9f4ac0a3c7ed315c92470705ccf830f19e88b60	Complications included spasticity, hemiparesis, cerebrospinal fluid leak, @PHENOTYPICFEATURE$, and subdural @DISEASE$.	false
+2352ed786c02a2553250be7f384a2c08c2adf61e	Benign external @PHENOTYPICFEATURE$ (BEH), @DISEASE$ and chronic subdural haematoma are extra-axial fluid collections in infants.	false
+e9daae5618f6cb46e644afb162fa4fbd8a94cff1	This paper reports on @PHENOTYPICFEATURE$ in 38 patients with @DISEASE$.	false
+f7abd0f9022d0eae102dbdc11f71bf6c1a448e14	@DISEASE$ is caused by mutations in fibroblast growth factor receptor 2 (Fgfr2) and is characterized by craniosynostosis and other @PHENOTYPICFEATURE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+8fdd16d17a5c05391d433cafa18bc55577014dfd	@DISEASE$ is one of the craniosynostosis syndromes which, due to its association with other @PHENOTYPICFEATURE$, is also known as acrocephalosyndactyly.	false
+b49b5c455487ac163b8e2be4c3b84ed2a775363a	Patients with @DISEASE$ (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and @PHENOTYPICFEATURE$.	false
+7fbd4f11a10874de84b0efae517b16a146b8b7a1	Sequence variants in CRB2 cause a syndrome with greatly elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein levels, cerebral @PHENOTYPICFEATURE$ and renal findings similar to @DISEASE$.	false
+65b9661e6f23b210aeee880ae6623f614f16af0c	Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, @PHENOTYPICFEATURE$, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the @DISEASE$ phenotype.	false
+085b08696115f792c392a265f685174fdb7fed1b	Molybdenum cofactor deficiency (@DISEASE$) is a rare, @PHENOTYPICFEATURE$ disorder caused by sulphite oxidase enzyme deficiency.	false
+7296fb0724c349399cb55bf35b555ab1a725e1b2	This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in @DISEASE$ syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) @PHENOTYPICFEATURE$-tumor syndrome.	false
+8600992e222d1c17cc25a377fa4ce9a95547d3dc	Cerebellar hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".	false
+14882b46291492a28ec7e07036b8ed35f9d9cc9d	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, @DISEASE$, alopecia, microcephaly, psychomotor retardation, and @PHENOTYPICFEATURE$: "D-CHRAMPS syndrome".	false
+6f5a532885ceaf644b7a2539313b5e35b20519b9	A syndrome of @DISEASE$, congenital ichthyosis, @PHENOTYPICFEATURE$, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.	false
+0622ad5396d130a1470fa76c99704aa7e8206f72	A syndrome of @DISEASE$, congenital ichthyosis, hypergonadotropic hypogonadism, @PHENOTYPICFEATURE$, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.	false
+181d11c71547837302d79960594cdaf1279d2d0c	Two unrelated women with a disorder showing @DISEASE$, congenital ichthyosis, @PHENOTYPICFEATURE$, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup.	false
+f5d1241097ca269a8683040b9c37251b0ff6ee9e	Two unrelated women with a disorder showing @DISEASE$, congenital ichthyosis, hypergonadotropic hypogonadism, @PHENOTYPICFEATURE$, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup.	false
+db77b367e4de0699dc448c01a48a2d6bb6c34ca8	The association of @DISEASE$, congenital ichthyosis, hypergonadotropic hypogonadism, @PHENOTYPICFEATURE$, mental retardation, cranial dysmorphism, and abnormal electroencephalogram may represent a distinct syndrome previously considered a subset of the now defunct Rud syndrome.	false
+7adfde60eaf7ce1a2b03ddaf235e3b8bd8626f81	The association of @DISEASE$, congenital ichthyosis, @PHENOTYPICFEATURE$, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram may represent a distinct syndrome previously considered a subset of the now defunct Rud syndrome.	false
+c8462ab9edda15294028800ce5d3f6a3f3c12150	It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9814c9dd7753610139bd80f22cf967f41e47e593	The older brother had a severe form of @DISEASE$ associated with @PHENOTYPICFEATURE$ and total optic atrophy, whereas the younger brother presented typical X-linked retinitis pigmentosa.	false
+4eb1285710d0f0986c27ee4418b165060fa037d3	The older brother had a severe form of retinitis pigmentosa associated with @PHENOTYPICFEATURE$ and total optic atrophy, whereas the younger brother presented typical X-linked @DISEASE$.	false
+59456956c7ccf053f9b766f99b8341e489ac3a17	@PHENOTYPICFEATURE$ and @DISEASE$ were additional findings.	false
+3faffd11e652ac6821b7cb9d4d77a85cb961ad39	Extrarenal manifestations are known, such as @DISEASE$ (Senior-Loken syndrome, SLS) and @PHENOTYPICFEATURE$ type Cogan.	false
+97f901f789c81544f3a420bf16372a013e65285e	Two affected subjects in family MOL0760 presented with a distinctive combination of @PHENOTYPICFEATURE$, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism and @DISEASE$ (RP).	false
+70e4a2d2d44f040c4b314667303afaaec69bf5e9	Two affected subjects in family MOL0760 presented with a distinctive combination of short stature, developmental delay, congenital mental retardation, microcephaly, @PHENOTYPICFEATURE$ and @DISEASE$ (RP).	false
+0bec20ba748cd6814dd0888f1e852ad98eefe541	A dominant @PHENOTYPICFEATURE$ in hexokinase 1 (HK1) causes @DISEASE$.	false
+b97dcfce758c215c6fba38f0f3068dafae11ec26	@PHENOTYPICFEATURE$ is rare and @DISEASE$ is common in adults with idiopathic central diabetes insipidus.	false
+3f2bd7c8506b889beadfd3477c6c96dfe649da14	Increased prevalence of celiac disease in individuals with @DISEASE$, @PHENOTYPICFEATURE$ and undiagnosed liver disease have been confirmed.	false
+b226b4859683565574200fc1f5d2b8c145b41172	Larger effusions should raise clinical concern for hydrops fetalis, Rh disease, @PHENOTYPICFEATURE$, and infectious or @DISEASE$.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+d000a00a2aeb7820951310678c6da43822ea1a23	Endocrinological screening showed partial @PHENOTYPICFEATURE$ and thyroid @DISEASE$.	false
+78ae17544dcc010e178c24bfcec9a640c23e30e6	These include other @DISEASE$ and ocular and @PHENOTYPICFEATURE$.	false
+48f64fb0d68da1586aa8fc507273b4c5b0bab10b	Other possible causative factors of acute pancreatitis including alcohol, biliary tract stone, hypertriglyceridemia, @PHENOTYPICFEATURE$, hyperparathyroidism, biliary dysmotility and @DISEASE$ were excluded by a series of examinations.	false
+9d7488bbf88128261c3ed383f40d364cd94c6854	Other possible causative factors of acute pancreatitis including alcohol, biliary tract stone, hypertriglyceridemia, hypercalcemia, @PHENOTYPICFEATURE$, biliary dysmotility and @DISEASE$ were excluded by a series of examinations.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+6856a9e1a00771a7da82baca9b953a67496b1d1d	Secondary complications, like malignancies, osteopenia - @PHENOTYPICFEATURE$, gynaecological and obstetrical problems and @DISEASE$, are common.	false
+a2139e9f89516106f825b680281fc50a22bf454e	We further investigated this association by determining the frequency of @DISEASE$ in families that have probands with @PHENOTYPICFEATURE$ (PDDs), including autism, compared with 2 control groups.	false
+820e5613119f5aa57b306671b523763c09fdfd97	We further investigated this association by determining the frequency of @DISEASE$ in families that have probands with pervasive developmental disorders (PDDs), including @PHENOTYPICFEATURE$, compared with 2 control groups.	false
+d8fb818885772d177f421cde08dddfdaf3f327c6	Most would refer for PGD for Huntington's disease and @DISEASE$, fewer for cystic fibrosis, and fewer still for @PHENOTYPICFEATURE$, Alzheimer's disease, or gender selection for family balancing; in each of these cases, psychiatrists' percentages were higher than those of neurologists.	false
+2e1a0b3cb5a43b4b74b4625944b9c057f43162ec	An adult onset @DISEASE$ syndrome with @PHENOTYPICFEATURE$ and internuclear ophthalmoplegia.	false
+b6da35c888d679c43cc987f53991e0d40dcb659c	The mouse model of human type B @DISEASE$ created by the disruption of the Hexa gene showed no @PHENOTYPICFEATURE$, with milder clinical symptoms than the human counterpart, and the accumulation of G(M2) in the brains of affected mice was only limited to certain regions [Sango, Yamanaka, Hoffmann, Okuda, Grinberg, Westphal, McDonald, Crawley, Sandhoff, Suzuki and Proia (1995) Nat. Genet.	false
+66cfdede6783247447cdfa5e329e1d9b3afe4bbf	Moreover, we propose a VCX/Y teamwork-dependent mechanism for the incidence of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+6c6d22d6758058ee6afbe328282f30fbed7508b0	A 14-year-old boy without any stigmata of @DISEASE$ presented intractable complex partial and @PHENOTYPICFEATURE$ since the age of 12 years.	false
+dcb48c0bfcb7de7590984bd5e7a15f1c7231f941	Meningioangiomatosis is rare disease and is classified as @PHENOTYPICFEATURE$ in @DISEASE$.	false
+294f26bb911e4e1661b152189cb550a21a0dcd7d	Astrocytic @PHENOTYPICFEATURE$ of the optic disc and multiple caf?-au-lait macules in a child with @DISEASE$.	false
+fde394ea6ae2c8edd94b7c557441385e5b32b8f6	Association of bilateral, multiple presumed retinal astrocytic proliferations with combined @PHENOTYPICFEATURE$ of retina and retinal pigment epithelium in a 9-year-old male child with @DISEASE$.	false
+1e952cae009321e3a79ea6f5cc2d84b729720a9e	To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in @DISEASE$ (NF2) patients who have undergone translabyrinthine craniotomy for @PHENOTYPICFEATURE$ (VS) removal and to evaluate the burden of tinnitus in these patients.	false
+34a42e6f758855417c6f0af98c2f3b46af7a0c2c	Among these are chronic insomnias associated with an endogenous clock which runs slower or faster than the norm [delayed (DSPS) or advanced (@DISEASE$) sleep phase syndrome, or irregular sleep-wake cycle], periodic insomnias due to disturbances in light perception (non-24-hour sleep-wake syndrome and @PHENOTYPICFEATURE$ in blind individuals) and temporary insomnias due to social circumstances (jet lag and shift-work sleep disorder).	false
+b26433b0960eac99f0851de981e61f1f8b4a10a2	We describe the case of a 43-year-old patient with a @DISEASE$ in the small intestine, who initially presented with abdominal discomfort, @PHENOTYPICFEATURE$, constipation and neurological symptoms.	false
+656fa8664b2db4b1a8ffae63691063b77b72cf23	Concanavalin A receptors on the surface membrane of lymphocytes from patients with @DISEASE$, other malignant lymphomas, @PHENOTYPICFEATURE$ and lymphoma cell lines.	false
+dea499def2c8c36ec6270a7a8b3935b8eab44170	We report a previous healthy 3-year-old boy with stage IV @DISEASE$ presenting with acute @PHENOTYPICFEATURE$.	false
+e7cbb8c80f6145c00b6a507db4813c202902b86f	Hyper-CVAD is an effective regimen for patients with AIDS-associated @DISEASE$/@PHENOTYPICFEATURE$, with acceptable toxicity.	false
+e49129f18b97760db6f23a59efc774eed82465c1	In the World Health Organization classification, aggressive B-cell lymphomas are diffuse large B-cell lymphoma, @DISEASE$/@PHENOTYPICFEATURE$, and precursor lymphoblastic leukemia/lymphoma.	false
+718e1d03085c39248b229dc8c6097653d0f4d79d	An account of the clinical, histopathological and aetiopathogenetic aspects of @DISEASE$ is followed by the presentation of a personal case, in which the typical clinical picture of the African form progressed to terminal @PHENOTYPICFEATURE$.	false
+5525ce8be2c532a3bbab9582c649139f7515cef8	The various software environments are illustrated with reference to examples concerned with: clustering of childhood @PHENOTYPICFEATURE$ in part of Lancashire, England; @DISEASE$ in Uganda; larynx cancer in Lancashire; and childhood mortality in Auckland, New Zealand.	false
+129b0f3b6be84194f84948b3cfd49f279ef429de	@DISEASE$ presenting as @PHENOTYPICFEATURE$ in a man with human immunodeficiency virus.	false
+8ff24be00454c3fe273bad540bc2e06140f7da69	An 8;14 translocation [t(8;14) (q24;q32)] was found in six patients with diffuse non-@DISEASE$ and in four patients with Burkitt's lymphoma-@PHENOTYPICFEATURE$; in all these patients a stem line or the subline with a t(8;14) had partial trisomy for 1q.	false
+34fd2492b7847c33bb2fac3c2ef0437e96fe6ccc	An 8;14 translocation [t(8;14) (q24;q32)] was found in six patients with diffuse non-Burkitt's lymphoma and in four patients with @DISEASE$-@PHENOTYPICFEATURE$; in all these patients a stem line or the subline with a t(8;14) had partial trisomy for 1q.	false
+c2f141e72e95b996c637f62ce8d313eab3fe1395	Both PBL and @DISEASE$/@PHENOTYPICFEATURE$, presenting with a tumor mass and marrow involvement (BLL), are considered stage IV disease, which is associated with a poor prognosis.	false
+befaa41980624b2e42a954ea9da87c84da4c583c	[@DISEASE$ @PHENOTYPICFEATURE$ in the right ventricle of the heart].	false
+8278e1f7d84e674b7e7ff26966f942c61d274091	Both women, age 40 and 39, presented with @PHENOTYPICFEATURE$, hydronephrosis, and past medical histories significant for @DISEASE$ (AML).	false
+788199a9b12d3359835ee92a7a39f13aefb3ad1d	The syndrome of @PHENOTYPICFEATURE$-pancytopenia is an autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and @DISEASE$.	false
+efc9d96dda9e584d30ff2eab32c935a6258fc863	The syndrome of ataxia-pancytopenia is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and @DISEASE$.	false
+2fdd98620202bad719934662b55a7f447ca85e5a	It manifests usually in childhood with neurologic disorder (@PHENOTYPICFEATURE$ or atrophy) and/or hematologic disorder (marrow hypoplasia, myelodysplasia, @DISEASE$, or pancytopenia).	false
+390993f76900827ba2b4f1808e60d26be5a44334	Inherited mutations of ATRX cause syndromal @PHENOTYPICFEATURE$ (ATR-X Syndrome) whereas acquired mutations are associated with myelodysplasia, @DISEASE$ (ATMDS syndrome), and a range of solid tumors.	false
+b4219304cade31a20e68a71f62b8b2c5f927bee0	@PHENOTYPICFEATURE$ with postictal hemiparesis due to cerebral infarction can be a rare manifestation of @DISEASE$.	false
+6571e886220807cad280c9257d6888382d48ddb4	The difficulty early in the course of Lennox-Gastaut syndrome is distinguishing this diagnosis from severe @DISEASE$ (Dravet syndrome) or from myoclonic-astatic epilepsy (Doose syndrome), as the @PHENOTYPICFEATURE$ patterns in these three syndromes may overlap at the onset.	false
+6a93b26c4d002fd56759093a44e99840e7ba6cfc	The subsequent classification of the Proposed Diagnostic Scheme for People with @PHENOTYPICFEATURE$ and with Epilepsy (see Ref. 8) placed MAE in axis 3 in the "generalized epilepsy" group and LGS, severe @DISEASE$ (SMEI or Dravet syndrome) and atypical benign partial epilepsy/pseudo-Lennox syndrome (ABPE/PLS) in the "epileptic encephalopathy" group.	false
+eaa066412abc38e69b4af32626aeeb754da84679	"Dravet syndrome" (DS) previously named severe @DISEASE$ (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.DS is characterized by febrile and afebrile @PHENOTYPICFEATURE$ beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs.	false
+7e35169901862d16b22310b53b59854f6778a5d2	"Dravet syndrome" (DS) previously named severe @DISEASE$ (SMEI), or epilepsy with polymorphic @PHENOTYPICFEATURE$, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs.	false
+df5e1195904adad75fa797ec0de14965aebc9ad4	"Dravet syndrome" (DS) previously named severe @DISEASE$ (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of @PHENOTYPICFEATURE$ (either focal or generalized), which are typically resistant to antiepileptic drugs.	false
+5fe6618c10e3a119438b36df0dd6b1cf651541d4	Complete loss-of-function mutations in NaV1.1 cause severe @DISEASE$ (SMEI or Dravet's Syndrome), which includes severe, intractable epilepsy and comorbidities of @PHENOTYPICFEATURE$ and cognitive impairment.	false
+c5c758212d8ece1e4783b7a5fa54c66b174fbb2b	In humans, severe @DISEASE$ (SMEI) is due to SCN1A gene mutation, which causes a non-inactivating sodium channels condition with @PHENOTYPICFEATURE$.	false
+ada569315647ffb57f28a1bd5ca3991291c2d205	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe @DISEASE$, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile @PHENOTYPICFEATURE$.	false
+78692285b62da755b714d1abb45825b04a947081	@PHENOTYPICFEATURE$ tumors of the central nervous system are occasionally found in several unrelated diseases such as Hand-Sch?ller-Christian disease, @DISEASE$, histiocytosis X, malignant fibrous histiocytoma, and a complication of metabolic or storage diseases.	false
+8e6c32d5b8bd7108362d3c6c2e0abbeedfbfb04f	Systemic @DISEASE$ with reversible bilateral @PHENOTYPICFEATURE$.	false
+a160bb404f690ec0e40714b6ed8e90ec7b25878f	We report a patient with systemic @DISEASE$ who, during a relapse, developed bilateral @PHENOTYPICFEATURE$ which resolved when the Weber-Christian disease remitted.	false
+b1d7b5670f10f4f954dd5f5af93baa1daed966b1	We report a patient with systemic Weber-Christian disease who, during a relapse, developed bilateral @PHENOTYPICFEATURE$ which resolved when the @DISEASE$ remitted.	false
+1aff27f891ccf6cf66025b2e6b8bdfb6556ca358	[Chemotherapy for @DISEASE$ (SCLC) patients with @PHENOTYPICFEATURE$].	false
+1331de3695cde35dac86e0d0cd97eadec187542c	A case of rapidly progressing @DISEASE$ incidentally found during the course of @PHENOTYPICFEATURE$.	false
+64424873cc9db3b6a6e122fb726389bd57e9cbb7	These results suggest that oral etoposide administration is an effective regimen in @DISEASE$ patients associated with @PHENOTYPICFEATURE$.	false
+1bbc5ade40dd405627f2c15a3787ad662625198a	It thought that this chemotherapeutic regimen was effective for @DISEASE$ with @PHENOTYPICFEATURE$ undergoing hemodialysis.	false
+d3048e3426a99034c0631158099d452edc877a2f	In the adult oncologic population, opsoclonus is seen usually within the context of opsoclonus-@PHENOTYPICFEATURE$ ataxia and is associated most strongly with @DISEASE$.	false
+39284826c3fce1516714cf1dd6da6f74b123d0a6	@DISEASE$ (SCLC) @PHENOTYPICFEATURE$ are highly aggressive.	false
+80da87084edb8b508935ecba80a4323313f1f201	@DISEASE$ presenting as ectopic adrenocorticotropic hormone (ACTH) syndrome associated with hypothyroidism and @PHENOTYPICFEATURE$ is clinically very rare.	false
+82457565626a7f1ca301c3cc73d55291287b1cda	A 65-year-old man with rapidly progressing @DISEASE$ found in the course of @PHENOTYPICFEATURE$ is reported.	false
+43ad8cb4eccaabe04aee62f7cc6a2a176cf5a1fd	We administered chemotherapy in three cases of @DISEASE$ (SCLC) with @PHENOTYPICFEATURE$ under different situations.	false
+805a8b542dcdba146d8f7b4ef7793cd2f64bc0b1	A 66-year-old man with Lambert-Eaton myasthenic syndrome, polyneuropathy, and @DISEASE$, developed profound @PHENOTYPICFEATURE$ with a prolonged period of ventilatory dependency.	false
+76ba3c310028a34b0cf6f6f7846e5c8c3885e1d4	A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, @PHENOTYPICFEATURE$, and facial anomalies resembling those seen in @DISEASE$ or microcephalic primordial dwarfism I. Analysis of prometaphase chromosomes, fluorescent in situ hybridization (FISH), and molecular studies showed the presence of a de novo chromosome 2 deletion that could be defined as del(2)(q33.3q34)pat.	false
+9ab5bc318fc696db166f95a3b107ea903481481f	Plasma @DISEASE$ was discovered in a 12-yr-old male with profound mental retardation, severe athetoid spastic quadriparesis, @PHENOTYPICFEATURE$, sensory peripheral neuropathy, and suprabulbar signs.	false
+5d5b14007f87c9df30f86a13c7d2d7ee33fc4eb5	However, individuals with dup(1q), del(15q), and @DISEASE$ share common manifestations (i.e., low birth weight, growth retardation, triangular face, low set/abnormal ears, micrognathia, @PHENOTYPICFEATURE$.	false
+b3fc482053641170ca5bfa5bdf9be3e176df6012	There were 579 @PHENOTYPICFEATURE$ (576 patients) treated with @DISEASE$.	false
+9ab415d7f153a452f0490353902271bd10b2f406	Recently, gain-of-function mutations within the PCNA domain have been described in two disorders characterized by growth failure, namely IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and @PHENOTYPICFEATURE$) syndrome and Silver-Russell syndrome (@DISEASE$).	false
+62f429b1e97e330f6ad1b7c42a73b77d03f07e7c	Recently, gain-of-function mutations within the PCNA domain have been described in two disorders characterized by growth failure, namely IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and @PHENOTYPICFEATURE$) syndrome and @DISEASE$ (SRS).	false
+ebbbac1d599792124f956f2af55c550f3fd8bef5	GRS and @DISEASE$ were compared with respect to @PHENOTYPICFEATURE$ detection and uptake.	false
+95a3787ae8c256915ad5be5072a7302f9ecc0b0a	The residual @PHENOTYPICFEATURE$ may then be treated with @DISEASE$.	false
+cbc90094dd4c8e6aa3c286be34bc92b87a4b718f	@DISEASE$ offered superior local @PHENOTYPICFEATURE$ control compared to EBRT.	false
+5b1ae191e78645b47bcc6fedacc9049f699d30a0	@DISEASE$ with @PHENOTYPICFEATURE$: a case report.	false
+05beb52813cd643eb9b2887f4899e4bde98ea982	We report for the first time the association of specific anomalies of the spine, elbows, hands and feet, and @PHENOTYPICFEATURE$ in @DISEASE$ with severe H19 hypomethylation.	false
+d5fc27b9b909a600ddeb5628199d8818b701dfd3	The objective here was to validate a new simplified radiographic score (@DISEASE$) for evaluating radiographic progression in patients with early @PHENOTYPICFEATURE$.	false
+80e0cb0bdd39ecae042a832eaee339aecbce2252	@DISEASE$ targets individual @PHENOTYPICFEATURE$ with large dosages of radiation.	false
+a8f5361e5047391ca8d931ce1a872c6dd82eb51c	@DISEASE$ comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+68efd252d28da2835aef51e56c08f590fcd1576c	@DISEASE$: unusual significant postnatal @PHENOTYPICFEATURE$ in a girl with otherwise typical presentation.	false
+4e939b5d3d52deb26973e555397c1627e4b77eb5	@DISEASE$ (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, @PHENOTYPICFEATURE$, congenital diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy.	false
+6d9484c205553ee7804330a65f50d43838d462ea	This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (@DISEASE$), together with some of the syndromes in which CDH is a relatively common feature, including Fryns syndrome, Matthew-Wood syndrome, @PHENOTYPICFEATURE$ syndromes and Donnai-Barrow syndrome.	false
+13b29181a0c28614c43c5605b6a9217b5203fbc6	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+1a205bccdf6817c265bec19d42911de9ccb478da	Congenital overgrowth and neonatal @PHENOTYPICFEATURE$ have been frequently linked to @DISEASE$ (PKS; OMIM 601803).	false
+99e6389c0def6833c8ebb56695375874efea2d2e	Congenital @PHENOTYPICFEATURE$ and neonatal overgrowth have been frequently linked to @DISEASE$ (PKS; OMIM 601803).	false
+d16db36b262d6115531e2f216ceb2e5b70800070	@DISEASE$ is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, @PHENOTYPICFEATURE$, diaphragmatic hernia, epilepsy and mental retardation.	false
+33f84bf4df3ff456e5ab23e5d7603e6f3c5d2b52	@DISEASE$ (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, @PHENOTYPICFEATURE$, and other systemic abnormalities.	false
+93cb0b594be663e7d43b5945d485b3d3d6e3162a	Arginase deficiency is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and @DISEASE$, associated with progressive spastic tetraplegia, @PHENOTYPICFEATURE$, psychomotor retardation, and growth failure.	false
+38d4f6af3996922ee09317d7d357a27e5aa27163	After the exclusion of other hereditary fever syndromes, migraine, stroke, Molaret's meningitis, Beh?et's syndrome and mitochondriopathy by clinical, serological, CSF investigations, funduscopy, electroencephalography, and cerebral MRI and MRI angiography, the described @PHENOTYPICFEATURE$ were regarded as CNS and PNS manifestation of vasculitis or amyloidosis in @DISEASE$.	false
+852a15071644c2d4e5493c1f181d3b915ac6dd08	We report a Turkish child with @DISEASE$ presenting with @PHENOTYPICFEATURE$ during attacks, in whom kidney biopsy documented the presence of mesangial IgA deposits and the absence of amyloidosis.	false
+a64656e0831f946d34921e3bf18c691b8873e572	Fever, @PHENOTYPICFEATURE$, and thoracic symptoms were significantly more common in @DISEASE$ than non-FMF patients.	false
+defaeecc8a43cd37fd18c931f0cb74dedfe8587f	Thirty healthy volunteers who had no history of renal disease, @PHENOTYPICFEATURE$ or vascular disease and 60 patients with @DISEASE$ were included in the study.	false
+b3c6dc36246d316c367c47b7eab02feb9124a95d	patients died of either aspiration pneumonia (4 cases), complications of thymectomy, congestive @PHENOTYPICFEATURE$ or @DISEASE$.	false
+9c6e310cf048e1f63bbe1c539d53817f45ddd4a8	CASE 1: An 80-year-old man presented at our hospital with pain in both knees.He had received continuous intravenous administration of saccharated ferric oxide (SFO) over a period of five years following a diagnosis of iron-deficiency anemia.Blood tests revealed hypophosphatemia (1.4 mg/dl) and high circulating levels of fibroblast growth factor 23 (FGF23) at 248.8 mg/dl.These findings led to the diagnosis of FGF23-related osteomalacia due to SFO administration.Accordingly, the treatment plan was first to discontinue SFO, which led to a decrease in pain and normalization of phosphorus and FGF23 after 1 month.CASE 2: A 63-year-old woman presented at our hospital with leg pain.She had undergone total gastrectomy for @DISEASE$ at 36 years of age.Blood tests revealed hypocalcemia (8.3 mg/dl) and @PHENOTYPICFEATURE$ (2.2 mg/dl), and 25(OH)D at no more than 5 pg/ml.Bone X-rays showed significantly diminished bone shadowing.These findings led to a diagnosis of vitamin D-deficient osteomalacia due to impaired absorption following total gastrectomy.For therapy, she was treated with 1 ?g/day oral alfacalcidol.Two months after initiating treatment, the pain improved.	false
+90db6c1678ebab7d2f490e5312b8c5e00cdf18b9	Low circulating adiponectin concentrations (hypoadiponectinemia; <4??g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), @PHENOTYPICFEATURE$, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (endometrial cancer, postmenopausal breast cancer, leukemia, colon cancer, @DISEASE$, prostate cancer).	false
+ba293de134355e9effc6d8291c14972d2e810017	@DISEASE$ (AMN), a disease of spinal cord, brain, adrenal, and testis, mostly affects men with spastic paraparesis or @PHENOTYPICFEATURE$ beginning in their second or third decade.	false
+31f8d523d761422a19a30b43f9b4a7073748ee0d	X-linked adrenoleukodystrophy (ALD) usually presents in childhood as severe cerebral demyelination accompanied by axonal loss or in adults as a progressive spinal cord syndrome (@DISEASE$). Rarely, patients present with adult onset spinocerebellar @PHENOTYPICFEATURE$.	false
+377af0b201b5ddc220d094936a250b4ba6f47ab6	We applied this technique to the systematic study of 25 patients with adrenoleukodystrophy: 3 with the severe childhood or adult cerebral form of the disease, 5 with @DISEASE$, 12 with no demonstrable neurological involvement, and 5 women heterozygous for adrenoleukodystrophy who had some degree of neurological @PHENOTYPICFEATURE$.	false
+5a5d91ceac71de680fadb1500891971119f689c3	Three hereditary myelopathy phenotypes are recognized: predominantly cerebellar (e.g., Friedreich's @PHENOTYPICFEATURE$), predominantly motor (e.g., hereditary spastic paraparesis), and a leukodystrophy phenotype (e.g., @DISEASE$).	false
+7db90d634f2b8bdf33e2d8aa1363ff468243b707	Finally, abnormalities of the hair, such as atrophic midline bald patches, generalized follicular @PHENOTYPICFEATURE$, and @DISEASE$, may be associated with developmental defects.	false
+9fe26adffe4333777104651bcd2b515c02f92da8	We consider these clinical findings as possible additional manifestations of the syndrome since, of 19 @DISEASE$ patients reported, 4 had @PHENOTYPICFEATURE$ and 3 had embryonal tumors.	false
+77e72bc4239558c0c7bf7fbb588aee2be7d634fc	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten.	false
+b8dcd678369a6bddd236cb74302aeb73c7c31d9f	To study the efficacy of acellular human dermal (@DISEASE$) allograft as a material for static slings used to treat @PHENOTYPICFEATURE$ of the oral commissure after facial paralysis.	false
+cc4866af9518ed184b892340ff0ea2e9859d214a	We report on a patient with Allan-Herndon-Dudley syndrome (@DISEASE$) with profound @PHENOTYPICFEATURE$ which is not usually a feature of AHDS and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).	false
+f628cac67a404c493df8caf553b396b12b2cf6ed	We report on a patient with Allan-Herndon-Dudley syndrome (AHDS) with profound @PHENOTYPICFEATURE$ which is not usually a feature of @DISEASE$ and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).	false
+6cb22c8c8065efa10f7f93c6bfc7c700398948a4	We report on a patient with @DISEASE$ (AHDS) with profound @PHENOTYPICFEATURE$ which is not usually a feature of AHDS and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).	false
+b5e260c9fad6170d9d3d3c5dcbf8513f699b6f1c	@DISEASE$ with unusual profound @PHENOTYPICFEATURE$.	false
+b22a994b54d9022840660f1e89bf15075d2964df	In @DISEASE$ only we observed, by comparison with predialysis values, a significant @PHENOTYPICFEATURE$, and a decrease of alveolar ventilation (VA), lung carbon dioxide output, and respiratory exchange ratio.	false
+57751407e487cfeb7dde9c09eb0716d19bc5bc59	This study evaluated anterior hyaloid damage (@DISEASE$), AHD-related Nd:YAG laser parameters, and retinal complications in subjects that underwent Nd:YAG laser posterior capsulotomy for @PHENOTYPICFEATURE$.	false
+0f627e5454a4e0ff24c84058a788d11234af8b99	The study with Holter ECG, EPS and ergonovine CAG yielded a presumptive diagnosis in 36 patients (36/38 = 95%), 11 with vasopastic angina, 7 with ventricular tachycardia, 4 with ischemic heart disease, 9 with sick sinus syndrome (SSS), 1 with drug induced SSS, 3 with A-V block, 1 with supraventricular tachycardia, 1 with @DISEASE$ with @PHENOTYPICFEATURE$ and 1 with carotid sinus syndrome (included are 1 patient with ventricular tachycardia+ischemic heart disease, 1 with SSS+vasopastic angina and 1 with ventricular tachycardia+vasospastic angina).	false
+05e879531d0ef5ff3bd6bf8921e7e14439ead3bb	22q11.2 deletion in patients with @PHENOTYPICFEATURE$ and @DISEASE$22q syndrome phenotype.	false
+9e074bea1c1dce00163483c99b5017fad42db019	The nevi were also characterized as central @PHENOTYPICFEATURE$ or hyperpigmented, @DISEASE$ peripheral hypopigmented or hyperpigmented, or multifocal hypopigmented or hyperpigmented.	false
+bbf9b38da260043fe18ffd38614af566bd028081	The nevi were also characterized as central hypopigmented or hyperpigmented, @DISEASE$ peripheral hypopigmented or hyperpigmented, or multifocal @PHENOTYPICFEATURE$ or hyperpigmented.	false
+65c94ecff1ba03b55491e21499e121c4bddcfca7	The nevi were also characterized as central hypopigmented or hyperpigmented, @DISEASE$ peripheral @PHENOTYPICFEATURE$ or hyperpigmented, or multifocal hypopigmented or hyperpigmented.	false
+5dfee5451d5506c8ddc2990757086953daabeb26	Red lunulae are associated with rheumatoid arthritis, systemic lupus erythematosus, alopecia areata, @PHENOTYPICFEATURE$, hepatic cirrhosis, lymphogranuloma venereum, psoriasis, carbon monoxide poisoning, twenty-nail dystrophy, and @DISEASE$.	false
+2dd25577db738bf5bd0f8034e397b8a0b61d41f9	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; @DISEASE$ (CHH) and mtDNA depletion syndrome, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+d222570b5028f9836d6ff688ae637729ae541084	Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (CCHS), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), @DISEASE$ (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and @PHENOTYPICFEATURE$ due to congenital stenosis of the aqueduct of sylvius (HSAS).	false
+209c95de0cf708d4c45f5ca7b480ff0088711cd4	@DISEASE$ (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe @PHENOTYPICFEATURE$ and impaired immunity.	false
+3c503b92d3f1c48880bc66c613a0cb249ba312bb	A 2-month-old infant presented recurrent fever, @PHENOTYPICFEATURE$, and hepatosplenomegaly mimicking hemophagocytic lymphohistiocytosis (HLH) or @DISEASE$ (JMML).	false
+635a7d95db6b8257471aa9e3eb070725b38c91b5	All patients with MDS presented with @PHENOTYPICFEATURE$; additional cytopenias were present in patients with refractory anemia with excess blasts (RAEB), @DISEASE$ (CMML) and refractory anemia with excess blasts in transformation to ANLL (RAEB/Tr).	false
+4a6ba44a7cf1766007824feef2957a268fa91614	We identified a broad spectrum of disease: hematologic (MDS 84%, AML 14%, @DISEASE$ 8%), infectious (severe viral 70%, disseminated mycobacterial 53%, and invasive fungal infections 16%), pulmonary (diffusion 79% and ventilatory defects 63%, pulmonary alveolar proteinosis 18%, pulmonary arterial hypertension 9%), dermatologic (warts 53%, panniculitis 30%), neoplastic (human papillomavirus+ tumors 35%, Epstein-Barr virus+ tumors 4%), vascular/lymphatic (venous thrombosis 25%, lymphedema 11%), @PHENOTYPICFEATURE$ 76%, miscarriage 33%, and hypothyroidism 14%.	false
+e4eb2aff2971daa27c483d1960c0b0ee95f4175c	The histopathology of the temporal bones of 1 patient with @DISEASE$ who suffered well-documented bilateral sequential profound @PHENOTYPICFEATURE$ 4 months before death was investigated using light microscopy.	false
+3b4d818404c1ae86d3136aac79dac3d9f9635c9b	Patella @PHENOTYPICFEATURE$ syndromes and @DISEASE$.	false
+9b3dae539fb7f68a0ac51d17b6f5d0dadb04bba8	Diagnosis was: cerebral palsy (13 cases), Duchenne muscular dystrophy (7), spinal amyotrophy (7), myelomeningocele (5), poliomyelitis (3), Friedreich's @PHENOTYPICFEATURE$ (2), @DISEASE$ (2), Steinert's disease (1), Charcot Marie Tooth disease (1).	false
+1207f4d2619f32d0dd63735f6b138badc01f8adf	We studied changes in the characteristics of action potentials of CA3 pyramidal cells accompanying electrographic @PHENOTYPICFEATURE$ (@DISEASE$) induction, using an in vitro model similar to kindling.	false
+640ddfa149d3e1030b19e62979cb5616c988135a	Mapping study of EEG spike focus was performed on 122 topographic maps, from 88 records of 72 subjects, classified in: F for "functional" (no @PHENOTYPICFEATURE$); EGI, @DISEASE$ and EGC: respectively generalized idiopathic, symptomatic and cryptogenic epilepsies; EPI, EPS and EPC: respectively partial idiopathic, symptomatic and cryptogenic epilepsies--epilepsies with centro-temporal spikes (EPR) are predominant in this group--; EI: indeterminate epilepsies.	false
+8e1e2d1e86c0791b82da5eedfcd2b2678ddcc3b3	Previously, we observed a role for NMDA receptors in the expression of electrographic @PHENOTYPICFEATURE$ (@DISEASE$) observed immediately upon withdrawal from chronic ethanol exposure in this system.	false
+33b6d4eb33382a429448a70e64f47ae51106c5a1	Electrographic @PHENOTYPICFEATURE$ (@DISEASE$) were detected in 13 of 16 asphyxiated neonates who were undergoing continuous electroencephalographic monitoring for detection of evidence of central nervous system injury.	false
+13c0b74249b79b50a150f28d98b260ac642460cc	We have used an in vitro model of electrographic @PHENOTYPICFEATURE$ (@DISEASE$), a neuroplasticity process, to examine the effect of varying ethanol concentrations.	false
+961309651eaa76df57f241e53932c0251a4ac872	In two unrelated families, a heterozygous missense mutation, c.632C-->T (p.A211V), was found to segregate with @DISEASE$ @PHENOTYPICFEATURE$ and was not present in 267 controls.	false
+874181bab0c317e902759a2e6d69f0f82e93b625	Ramsay Hunt syndrome (@DISEASE$) is a rare condition within the progressive myoclonic epilepsies syndrome (PME), with a triad of action myoclonus, @PHENOTYPICFEATURE$ and severe cerebellar ataxia.	false
+e2e4bebc1cc4f8be534f5e89e9c8693f94fe5d7a	In the present series, we report 6 patients with systemic lupus @PHENOTYPICFEATURE$, mixed connective tissue disease, Sj?gren syndrome, polymyositis, and @DISEASE$-positive vasculitis who presented with a spectrum of pulmonary manifestations affecting the airways, lung parenchyma, and probably respiratory muscles.	false
+0712cb4eb7d41cba314dc676894a6e27c3c066d5	[@DISEASE$ due to a de novo @PHENOTYPICFEATURE$ in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].	false
+2f13bddac95d5b71c3ab9dc4843f07df469706da	This case illustrates the complex relationship between seizures and @PHENOTYPICFEATURE$ in @DISEASE$ that can create diagnostic difficulties.	false
+40786fd69ce3ca9fccce984797e5a18fae60e22d	A girl with intractable absence seizures and facial myoclonia at age 7 years was eventually diagnosed with @DISEASE$ because of @PHENOTYPICFEATURE$, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+97542b9c70c66ff0897f0d71bcf0989cd233dae5	GI involvement should be sought in patients who have @DISEASE$ with abdominal pain, @PHENOTYPICFEATURE$, or hypoalbuminemia.	false
+ff2b138e3103ca4a381df516ea07d2466618ff25	A 3-year-old girl with the diagnosis of chronic granulomatous disease (@DISEASE$) was hospitalized for bronchopneumonia and @PHENOTYPICFEATURE$.	false
+b41b73252b865f171840a044201215c34ba6bfa8	A 3-year-old girl with the diagnosis of @DISEASE$ (CGD) was hospitalized for bronchopneumonia and @PHENOTYPICFEATURE$.	false
+29d477bfe023d8ff3949150f35100d3769ecfd10	Low HRV correlates to groups of children born small for gestational age (SGA), children with cardiac @PHENOTYPICFEATURE$ and children with congenital syndromes, but not to those with constitutional growth delay (@DISEASE$), who had normal HRV.	false
+58b9975bba55233c43e6b30ddada70b77d42622c	@PHENOTYPICFEATURE$ manifestations were present in all patients whose PIDs were classified as diseases of immune dysregulation, 47?% of patients with @DISEASE$, and 38?% of patients with predominantly antibody immune deficiencies.	false
+9490ebc8daffd1a80d80c290bd37c2eca1997a20	We present a report of a child with @DISEASE$ and CNS involvement, presenting with @PHENOTYPICFEATURE$.	false
+e701a4c6970019fef8d1f51849173bd117a421a7	Accordingly, it is proposed that @DISEASE$ should be considered in those patients with the combination of trigonocephaly/metopic synostosis, short stature, developmental delay including prenatal and postnatal growth disorders, craniofacial dysmorphic features (especially hypotelorism), structural CNS anomalies (mainly white matter involvement), conductive hearing loss, seizures, and @PHENOTYPICFEATURE$.	false
+f47336301c9241bf0c75ab973a82225e6c664f7d	@DISEASE$ (CS; MIM 218040) is characterized by short stature, @PHENOTYPICFEATURE$, cardiac defects and predisposition to embryonal rhabdomyosarcoma (CS/ERMS) and other neoplasias.	false
+398483a75580a9ffa7e188f1dda33b1d9c330fd9	@DISEASE$ (CS) is a multisystemic disorder characterized by postnatal reduced growth, @PHENOTYPICFEATURE$, cardiac defects, cognitive impairment, skin and musculo-skeletal anomalies, and predisposition to certain cancers.	false
+03e3279f405a4cbe98ecc81765c51ae89cb41f32	@DISEASE$ (CS) is a developmental disorder characterized by postnatal reduced growth, @PHENOTYPICFEATURE$, cardiac defects, mental retardation and skin and musculo-skeletal defects.	false
+c2d39fa72b1c5272515978169610be6244c9f620	One of these conditions, @DISEASE$ (CS), is typically caused by an activating de novo germline @PHENOTYPICFEATURE$ in HRAS and is characterized by a wide range of cardiac, musculoskeletal, dermatological and developmental abnormalities.	false
+1c1e146347d51649c602965bd7c0552288241866	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, mental retardation and sociable personality.	false
+755fd2e4f9704bc0e239193c6d9c1a1df31d4379	We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral @PHENOTYPICFEATURE$, a feature previously reported in only 2 cases of severe @DISEASE$.	false
+d94d7a6f14a2a464c0b7886ee8ef655d75577e07	While it is possible to have movements that share executive machinery ordinarily used for voluntary movement but lack a sense of voluntariness, such as @DISEASE$, it is also possible to claim volition for presumed involuntary movements (early @PHENOTYPICFEATURE$) or even when no movement is produced (anosognosia).	false
+9a9af5b7c4e8b88a078acd1e146ffc298b2b7a63	Facial palsy concerning cranial nerve VII can also be caused by other conditions such as mastoid fracture, acoustic neurinoma, tumor spread to the temporal lobe (e.g., @PHENOTYPICFEATURE$), neoformation of the parotid gland, @DISEASE$, and Ramsay-Hunt syndrome.	false
+b825a79fd9b27bea5987b0664832f925e311a4a4	Other neurological features include @PHENOTYPICFEATURE$ (axonal, demyelinating and autonomic), myopathies, pseudotumor cerebri, papilloedema, psychiatric disorders (anxiety, phobias, depression) and association with syndromes such as multiple sclerosis, Cogan s syndrome, @DISEASE$, connective tissue disorders and vasculitis.	false
+5d947151c0ea62520e0b35d0b9043e3caccae352	Comparing to controls, a significant decrease of total sleep time, sleep efficacy and slow-wave sleep as well as a significant increase in the number of awakenings, @PHENOTYPICFEATURE$-hypopnea index and mixed and central apneas were evident in @DISEASE$ patients.	false
+247d22003ec2eb554ff9d1d4af1c7c4282bd38eb	Ten patients with probable @DISEASE$ had asymmetric manifestations with hemiparesis, focal myoclonus, dystonia or @PHENOTYPICFEATURE$; 9 had clinical manifestations mimicking the corticobasal syndrome.	false
+fcdb136314b94b9f45171ff524851afd99b7a400	The mAb 3D1-MMAE antibody-drug conjugate (@DISEASE$) (a) kills MUC1-C-positive cells in vitro, (b) is nontoxic in MUC1-transgenic (MUC1.Tg) mice, and (c) is active against human HCC827 @PHENOTYPICFEATURE$ xenografts.	false
+0fc5699ac3a76f208e1956f2f02bf8bacee6c345	Childhood @PHENOTYPICFEATURE$ (RR = 2.7; 95% Cl = 1.1, 6.7) and childhood exposure to coal burning (RR = 2.3; 95% Cl = 1.0, 5.5) were additional risk factors for @DISEASE$.	false
+81b28e618ca6069935ae251422f754be1db9ed49	@PHENOTYPICFEATURE$ and white matter integrity were determined using diffusion tensor imaging (DTI) to quantify the apparent diffusion coefficient (@DISEASE$) and the fractional anisotropy (FA).	false
+df14f6aa6b24359d4783afce4d09d83c5f99a0bf	The magnitude of the PCr and NTP deficits in @DISEASE$ was not explicable by focal abnormalities or @PHENOTYPICFEATURE$ quantified in images of the same regions.	false
+f50dbc57a1c294d41a2952c699603ec8e38e60cb	Histogram parameters of whole lesions for distributed diffusion coefficient (DDC), @PHENOTYPICFEATURE$ index (?), and @DISEASE$ were calculated by two radiologists and compared among benign lesions, ductal carcinoma in situ (DCIS), and invasive carcinoma confirmed by pathology.	false
+d58bcee1c553467fb55c1ef83b693e01ef8cfc09	Several groups have proposed the use of immunohistochemistry (IHC) to recategorize LCC as @DISEASE$ or squamous cell carcinoma; however, it remains unclear if strictly defined LCCs are a clinicopathologically distinct @PHENOTYPICFEATURE$ subset.	false
+3ba53423ee01b7a7dbdf6330513316963b8a5c62	The original method includes chromosome 3 specific NotI-microarrays containing 180 NotI clones associated with genes for hybridization with 40 paired normal/tumor DNA samples of primary @PHENOTYPICFEATURE$: 28 squamous cell carcinomas (SCC) and 12 adenocarcinomas (@DISEASE$).	false
+6367c7a00ae7b6d64320921ddc5ddfa91c089cd9	Other comorbidities were age-related macular degeneration, pterygium, @PHENOTYPICFEATURE$, macula diseases, vitreous haemorrhage, @DISEASE$ and pseudoexfoliation (0.70%-1.60%).	false
+598190041d404f07a2c29b469d0938a84ca6b21f	One patient experienced sudden @PHENOTYPICFEATURE$ and one had @DISEASE$.	false
+7b91fed13fc29edec799c2ab0f400daf77fe9784	Ocular features include @PHENOTYPICFEATURE$, down-slanting palpebral fissures, iris coloboma, high myopia, and @DISEASE$.	false
+4df1a05c10010d412af67fc5af8e5265dbec824a	In patients with severe endophthalmitis accompanied with @DISEASE$ and marked @PHENOTYPICFEATURE$, it is appropriate to conduct endoscopy-assisted pars plana vitrectomy to decrease evisceration of eyes.	false
+24fb843797ae226fe5a29392cb64156712e45279	A childhood syndrome of bone dysplasia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+610a1a6628d6d2c5e563d37477cd08e4cd6a48fe	Complications were cataracts (25.0%), @PHENOTYPICFEATURE$ (39.3%), and @DISEASE$ (7.1%).	false
+d7f94fffd5c3318bfa681551fe932e6396abc6d9	Several ocular abnormalities have also been described in this syndrome, including @PHENOTYPICFEATURE$, down-slanting palpebral fissures, myopia and @DISEASE$.	false
+20785d3d26bf0296e5c1e7dc53fedd439776c8c2	The clinical findings of the three brothers included no light perception, @PHENOTYPICFEATURE$, shallow anterior chamber, leukocoria, total @DISEASE$ and mental retardation.	false
+9488fbc96f835fd1565fd995330ea590c2a375bb	Larger extent of @DISEASE$, @PHENOTYPICFEATURE$, and low IOP are significant and independent risk factors.	false
+180ada1b5ac281e5cf612e0fc8819d2b6f2f34fb	Extraskeletal manifestations such as @DISEASE$ and @PHENOTYPICFEATURE$ have been reported.	false
+a7867c886c198f01b5958d589ed8e51900bd06ae	Egfr mutations were detected in 17% (both mice and rats) of @DISEASE$-induced @PHENOTYPICFEATURE$ and were predominantly in exon 20 with 50% G to A transitions (mice and rats).	false
+cfe826ea4e96b2575d4967b240ab66ee4988d717	Hydrolethalus can also be difficult to distinguish from certain skeletal dysplasias such as the short rib-@PHENOTYPICFEATURE$ syndromes and @DISEASE$.	false
+3155326cde580fc7c3d2a1f847ba9df4dbe1c67a	Short rib dysplasia syndromes with or without @PHENOTYPICFEATURE$, osteogenesis imperfecta type II, thanatophoric dysplasia, @DISEASE$, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed.	false
+c16f7e220623fa193b9b46841e161ab9bcf4ec68	Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive @DISEASE$ constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild @PHENOTYPICFEATURE$.	false
+100a527fcce89ca196ffd52988ebe9a5ab6fd112	Kras mutations were detected in 67% (mice) and 31% (rats) of @DISEASE$-induced @PHENOTYPICFEATURE$ and were predominantly exon 1 codon 12 G to T transversions (80% in mice and 57% in rats).	false
+81bb1c86264d9e14740c3a7a00a77b12f2db86c9	MRI findings, including visual corticomedullary differentiation (@DISEASE$) on T1- and T2-weighted imaging (T1WI, T2WI), cortical irregularity, the number of @PHENOTYPICFEATURE$, and the volume of the kidney, were evaluated for individual kidneys and pairs of kidneys.	false
+d5159716aff5adee343c8538ef2f13cc75f214ca	Tp53 mutations were detected in 19% (mice) and 23% (rats) of @DISEASE$-induced @PHENOTYPICFEATURE$ and were predominant in exon 5 (mice, 69% transversions) and exon 6 (rats, all transitions).	false
+bb35727b75f9600eb8dd97ce1510bf1df9729d36	@PHENOTYPICFEATURE$ are features of @DISEASE$ that have been little discussed in the literature.	false
+2c206f21b9ccf0133de1afd2b9c2a81abf13b753	A case of a mediterranean boy with congenital muscular dystrophy (@DISEASE$) and central nervous system (CNS) involvement with mild @PHENOTYPICFEATURE$ and seizures is reported.	false
+03f96f113efe8153e7edfbbd05b48849106f943d	RSS is classified as a @DISEASE$, and is characterized by early @PHENOTYPICFEATURE$ of the spine, limb contractures, and restrictive respiratory dysfunction.	false
+11aacb9ea1a031bbc875b3bdb31912a1d4c5454d	Genetic alterations leading to overactivation of mammalian target of rapamycin (mTOR) signaling result in brain @PHENOTYPICFEATURE$ syndromes such as focal cortical dysplasia (@DISEASE$) and megalencephaly.	false
+65a37726bcabeb4ccc8652ef1512d3f43559e891	Mutations in the same gene cause a disease continuum from @DISEASE$ to HME to bilateral brain @PHENOTYPICFEATURE$, reflecting the progenitor cell and developmental time when the mutation occurred.	false
+a25aad3754fcd44d4a074b8d4dd6ce9819774ad6	Mutations in the same gene cause a disease continuum from @DISEASE$ to HME?to bilateral brain @PHENOTYPICFEATURE$, reflecting the progenitor?cell and developmental time when the mutation occurred.	false
+84cbc06f7b57bbb4b92d21c308c03c6a80c583db	Barttin mutations cause @DISEASE$, a salt-wasting nephropathy with @PHENOTYPICFEATURE$.	false
+6a26381015f96a98dd0f9b228c83cbc8e871e7ec	Bartter syndrome with @PHENOTYPICFEATURE$ (@DISEASE$) is an autosomal recessive disorder characterized with polyhydramniosis, premature birth, massive polyuria, renal salt-wasting, hypokalemic metabolic alkalosis, normotensive hyperreninemic hyperaldosteronism, and hearing loss.	false
+c8b7838cec54ffdda5fcb5bccfb4c75829c93064	@DISEASE$ is an inherited human condition characterized by severe renal salt wasting and @PHENOTYPICFEATURE$.	false
+f561a984ba6c4a25b157c295cd12699047b9dfb1	@DISEASE$, also known as Bartter syndrome with @PHENOTYPICFEATURE$ (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear.	false
+91fe63ee74ecc507e6fdf2f9e811eb9cd6c8a481	@DISEASE$ is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and @PHENOTYPICFEATURE$.	false
+8ecfd4a846970002904026d2cf3856457c731b49	In the present study, we identified two novel missense mutations in BSND gene causing @DISEASE$ which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as @PHENOTYPICFEATURE$.	false
+1d61e45e089262ecdf5c36bd462c18d8cbd67935	Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as @DISEASE$ with @PHENOTYPICFEATURE$ and an especially severe salt-losing phenotype.	false
+c975ec207812e9d64e6d5d22609aec5e3a2a1f5d	@DISEASE$, characterized by salt-losing nephropathies and @PHENOTYPICFEATURE$, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB.	false
+634799bc762e71ab1adb62cbe8a68855858eadf3	Decrements in physical function, role function, and health perception for PVOD patients were comparable to MOS patients with @PHENOTYPICFEATURE$ or recent myocardial infarction, whereas level of bodily pain was worse in @DISEASE$ patients than in these other groups.	false
+eb6c5228fedb13fbd064252675041a08a795b58e	Decrements in physical function, role function, and health perception for @DISEASE$ patients were comparable to MOS patients with @PHENOTYPICFEATURE$ or recent myocardial infarction, whereas level of bodily pain was worse in PVOD patients than in these other groups.	false
+2b218e9da91dd1eece37efc51f73140ecbb7ce40	These PVOD patients were then compared to MOS norms for patients without any chronic disease, to MOS norms adjusted for age and other comorbidities of the @DISEASE$ patients sampled, and to patients with @PHENOTYPICFEATURE$ or recent myocardial infarction.	false
+164cdf29c792106070ad3f4be072cfdc6100f20e	These @DISEASE$ patients were then compared to MOS norms for patients without any chronic disease, to MOS norms adjusted for age and other comorbidities of the PVOD patients sampled, and to patients with @PHENOTYPICFEATURE$ or recent myocardial infarction.	false
+3b3882127c3f07ed04fabd4c0ae6902302c6dace	Pulmonary veno-occlusive disease (@DISEASE$) is a disorder which causes progressive pulmonary hypertension, usually presenting with worsening dyspnoea and right @PHENOTYPICFEATURE$.	false
+a93154889d6b8206d38e44b8c3061a3b8c2ab704	@DISEASE$ is characterised by progressive obstruction of small pulmonary veins and venules that leads to increased pulmonary vascular resistance, right @PHENOTYPICFEATURE$ and premature death.	false
+1a2643695eceebbdad57a94b43295e7be37ce4d1	Anomalous origin of one pulmonary artery from the ascending aorta is a rare congenital @PHENOTYPICFEATURE$ characterized by progressive pulmonary arterial hypertension (PAH) and pulmonary vascular obstructive disease (@DISEASE$) in early childhood.	false
+b992f9e4e14fdd602a2574fe07ffba5318e7d421	At autopsy, the cause of her right @PHENOTYPICFEATURE$ was found to be due to PTTM with features of pulmonary veno-occlusive disease (@DISEASE$).	false
+0911f65fb0833f946251dfaa44e881f8ca3e7894	Pulmonary veno-occlusive disease (@DISEASE$) is a rare lung disease characterized by fibrotic narrowing of pulmonary veins leading to pulmonary hypertension (PH) and finally to death by right @PHENOTYPICFEATURE$.	false
+40d86654a7f5fc2dddde0b3346334d017095f329	Cavernous angiomas associated with @DISEASE$ present with multiple lesions spanning more than 3 vertebral levels, making it difficult to completely resect these @PHENOTYPICFEATURE$.	false
+75fa2147f054d5ac2c5d5bc7df32d4c1383eb90a	These include @DISEASE$ myopathy, @PHENOTYPICFEATURE$, oxidative stress, and inflammation.	false
+77496517b75af625acb9982b56c988a7647ac93c	Chronic @DISEASE$ myopathy affects approximately half of chronic alcoholics and is characterized by the insidious development of @PHENOTYPICFEATURE$ and wasting.	false
+155756a3164eb7e3937f109f823f13b3f53e4865	The etiology of cirrhosis in patients was: alcohol 13, autoimmune hepatitis 3, hepatitis B 2, Budd Chiari syndrome 2, @DISEASE$ plus hepatitis B 1, hepatitis C 1, cardiac @PHENOTYPICFEATURE$ 1, Wilson's disease 1 and cryptogenic 1.	false
+0fed731ea83f203268b8a811a3d3b4d2eb5b712e	Myocarditis patients had less @PHENOTYPICFEATURE$ of the left ventricle, more marked segmental wall motion abnormality on admission and more extensive myocardial fibrosis than patients with @DISEASE$ heart muscle disease and DCM.	false
+a04d554aca199b36644c9e6220c0306d9c09af03	@DISEASE$ hypersensitivity, increased locomotion, and spontaneous @PHENOTYPICFEATURE$ in mice lacking the potassium channels Kv3.1 and Kv3.3.	false
+3807d6e60e05b55f9466a8f2cac0bede99448ae9	Comparing 2,962 international travelers and 9,980 non-travelers, international business travel was significantly associated with a lower body mass index, @PHENOTYPICFEATURE$, excess @DISEASE$ consumption, sleep deprivation, and diminished confidence to keep up with the pace of work.	false
+fc32bd1e99ad4fccdb0f79d5995132bc9a48d084	@DISEASE$ myopathy is characterized by @PHENOTYPICFEATURE$ and difficulties in gait and locomotion.	false
+c8d95d0d5d3bd4860308aa867299a013b521bdb3	Nonalcoholic fatty liver disease (NAFLD) is caused by hepatic steatosis, which can progress to nonalcoholic steatohepatitis, fibrosis/@PHENOTYPICFEATURE$, and hepatocellular carcinoma in the absence of excessive @DISEASE$ consumption.	false
+3b175cc74c56742975fc67a3bfc8b7af6e65c276	The skeletal muscle @DISEASE$ myopathy is characterized by @PHENOTYPICFEATURE$ and difficulties in gait and locomotion, while chronic alcohol consumption ultimately leads to a decrease in cardiac contractility and output.	false
+6ea4a03ca0e90b64cc6b95b82d25a8d79fc47619	The molecular mechanisms underlying @DISEASE$ @PHENOTYPICFEATURE$ promotion, however, remain unclear.	false
+b388890242715b61d577594ab62238bf141f580b	@DISEASE$ (WDS) is a developmental disorder presenting as mild tetraplegic cerebral palsy (CP) with severe pseudobulbar palsy, manifested as articulation problems or anarthria, chewing, and @PHENOTYPICFEATURE$ and severe drooling.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+ed268b8b56df4c8dad29d93f23b413bc8a32bc36	Mutations in @DISEASE$ GTPase regulator, are associated with RP3 type of X-linked retinitis pigmentosa, a severe, non-syndromic form of @PHENOTYPICFEATURE$.	false
+7d79666ff54b249e451f354e7324357ba1ea9dd7	A case of Branhamella catarrhalis @PHENOTYPICFEATURE$ in a patient with @DISEASE$ is reported.	false
+976afb15f6b606b114ac287c226923f4da993c30	@DISEASE$ is due to the proliferation of malignant plasma cells which increase the number of osteoclasts leading to trabecular and cortical bone @PHENOTYPICFEATURE$.	false
+e4fd46c124bc5fa8145ba787947aa2d5aedc31da	Symptoms of @DISEASE$ (MM) include bone destruction with pathological fractures, kidney failure and @PHENOTYPICFEATURE$, which are the major causes of patient mortality.	false
+a541b0c8e20b24c8ed92236ad2caa77022c10ca8	[Management of treatment-related complications in patients with @DISEASE$: @PHENOTYPICFEATURE$, constipation, and rash].	false
+18f10be78a47766ffa1308a5cd80368ed8cb4a39	@DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+0bb372ece4e4cfc17dd0069dc5a982a35f95cd86	@DISEASE$, and the associated @PHENOTYPICFEATURE$ bone disease, is highly dependent upon cellular interactions within the bone marrow microenvironment.	false
+a4ca07243019fecae2920c51247205ab43a19a53	This case was not associated with amyloidosis, @PHENOTYPICFEATURE$, light chain deposition disease, cryoglobulinemia, or @DISEASE$.	false
+c7915a0a5a95cd49944b9f3efcd3b08872044eed	Pancreatitis should be considered in patients with hypercalcemia and @DISEASE$ who develop nausea/vomiting, and @PHENOTYPICFEATURE$.	false
+bd5dac8018d3505f0f6a7b4f8d30c5ff2f9c754a	Pancreatitis should be considered in patients with hypercalcemia and @DISEASE$ who develop nausea/@PHENOTYPICFEATURE$, and abdominal pain.	false
+e5700e29cd215d97caeb983a57e4d2103203857e	[SDF-1/CXCR4 and @DISEASE$ @PHENOTYPICFEATURE$ bone lesions--review].	false
+9a29923f937c163ee6c17660f0f47ca7769785b0	Prognostic variables for survival and skeletal complications in patients with @DISEASE$ @PHENOTYPICFEATURE$ bone disease.	false
+99166c5be914e913ad477a6ffc7556eeb740a433	A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital @DISEASE$, glaucoma, and @PHENOTYPICFEATURE$ is reported.	false
+7646a6373fcb306364b50b6dd8e5ef8af28546dd	Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+159fee1e5d03b914f717401904af21e3629b0927	Here we present a case of a female in infantile period who is a liver transplant candidate with @PHENOTYPICFEATURE$ and ventricular septal defect (@DISEASE$) accompanying Abernethy malformation type 2.	false
+14ab3171b618a888abd5a13195507056057c3de3	This review describes the different surgical options for transposition of the great arteries, ventricular septal defect (@DISEASE$), and @PHENOTYPICFEATURE$.	false
+5dacd2c7d8caecb483580f78190ae0f262f33cba	We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, @DISEASE$, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts.	false
+8ab4fabfed9231d81ca6fe8f120dd145795228c5	Some forms of transposition of the great arteries, @DISEASE$, and @PHENOTYPICFEATURE$ can only be corrected by the Nikaidoh operation, although this operation can be definitely contraindicated in other instances.	false
+02ee1463603958a5b6e3e59961666bac7d13aa03	Wdfy3-deficient mice displayed various congenital heart defects including membranous ventricular septal defect (@DISEASE$), aortic overriding (AO), double outlet right ventricle (DORV), thinning of ventricular wall, @PHENOTYPICFEATURE$, and disorganized ventricular trabeculation at E14.5.	false
+e847426b700ba11679fc896f4335ed2ea07bb847	Wdfy3-deficient mice displayed various congenital heart defects including membranous @DISEASE$ (VSD), aortic overriding (AO), double outlet right ventricle (DORV), thinning of ventricular wall, @PHENOTYPICFEATURE$, and disorganized ventricular trabeculation at E14.5.	false
+0c20cf302f3f05b9b57606df6a799a8ec12840d2	The patient had severe @PHENOTYPICFEATURE$ and echocardiography showed large @DISEASE$.	false
+5bc54d476c264c47a85dc2cf7435572e71983825	This is a report of a rare case of LDLT in a four-yr old male child suffering with @PHENOTYPICFEATURE$ (post-failed Kasai procedure) associated with (i) a large congenital CEPSh from the spleno-mesentric confluence to the LHV, (ii) intrapulmonary shunts, (iii) perimembranous @DISEASE$.	false
+c8270015ef8f84a4368c9f129ad5cd62a4e985b7	The documented benefits of the CardioWest TAH include rescue of: critically ill patients with advanced heart failure; patients with biventricular failure especially those with significant right heart failure, elevated pulmonary vascular resistance, or @PHENOTYPICFEATURE$; patients with renal or hepatic failure secondary to low cardiac output; patients with massive myocardial damage such as those with post-\infarction @DISEASE$ or irreversible cardiac graft rejection; patients with mechanical valves or native valve disease; and patients with intractable arrhythmias and heart failure.	false
+ea3a4f5068c4034d97a7cd596e5f40458d9a3547	Intractable @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cbea8c845e9191b5784e8e4738c134d89c2750d2	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of @DISEASE$ include relative bradycardia, mental confusion/ @PHENOTYPICFEATURE$, loose stools/diarrhea, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+b7a3f2314ef132501e139af5559f8dd91b29bc18	In a patient with non-zoonotic CAP, the clinical and laboratory features in a patient with CAP pointing to the diagnosis of @DISEASE$ include relative bradycardia, mental @PHENOTYPICFEATURE$/ encephalopathy, loose stools/diarrhea, abdominal pain, mild/transient increases in serum transaminases, decreased serum phosphorous, a highly elevated C-reactive protein (CRP), elevated creatinine phosphokinase (CPK), highly elevated serum ferritin levels, or microscopic hematuria.	false
+35795321a2890054ac67f13f51aebc9939b34a5d	Partial @DISEASE$ induces brain oxidative damage and @PHENOTYPICFEATURE$, which are ameliorated by replacement therapy.	false
+839e8233d3ad47ae2a3fa640314fa9f17a1f14dd	In conclusion, @DISEASE$ is responsible for increased brain oxidative damage, @PHENOTYPICFEATURE$, and impaired learning and memory capabilities which are rescued by IGF-1 replacement therapy.	false
+d058fd16acd730e0db20b6b991f0f81fdcefa6ec	@DISEASE$ is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, @PHENOTYPICFEATURE$, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and congenital heart defects.	false
+40b2083b6f78e4ce30ccb6fb3213ced1979fc7cf	@DISEASE$ is a disorder characterized by psychomotor disabilities, dysmorphic features and organ malformations, including mental disabilities, growth deficiency, poor motor ability, micrognathia, microcephaly, low-set and malformed ears, distinctively clenched fists with overlapping fingers, and @PHENOTYPICFEATURE$.	false
+53b2402769019614b4c8bddbb27ee2cbb2f139a8	@DISEASE$, @PHENOTYPICFEATURE$, and nervous system anomalies were the most common anomalies associated with exomphalos.	false
+434b1f97836c24bd435ed2861bbe41176ed21211	Microcephaly is not mandatory for the diagnosis of @DISEASE$ syndrome because some cases of trisomy 18 can be associated with other anomalies of the central nervous system, including @PHENOTYPICFEATURE$.	false
+345a61f0fc67beeaf743dac6b26a4487e9346b17	Postmortem examination exhibited numerous features associated with @DISEASE$ including lanugo on the torso and arms, @PHENOTYPICFEATURE$, microstomia, left low-set ear with small flat pinna, closed ear canal, clenched fists with overlapping fingers, rocker-bottom feet, narrow pelvis, large right diaphragmatic hernia and left pulmonary hypoplasia.	false
+aba6f0ba56af10e9912603165adaf83d8e998a91	In 24 children (17%) @PHENOTYPICFEATURE$ was associated with a syndrome (Down syndrome eight, @DISEASE$ three, other syndromes three), or other congenital malformations (single eight, multiple two).	false
+31ac1fb744ffd7ae85fb058a9f468714a51e6cd9	Among 7,086 cases with @DISEASE$,438 with VD, and 11,524 matched dementia-free patients, we identified 180 cases with an incident diagnosis of @PHENOTYPICFEATURE$/epilepsy.	false
+be9b48dbc86bddce7f1812ce7576a5f10e1eeabb	As the @PHENOTYPICFEATURE$ also extended to the head of the pancreas, total pancreatectomy and combined resection of @DISEASE$ were performed.	false
+5b69921790c2ab52f5cb5345c07ef2748fef39f3	Computed tomography (CT) revealed a large @PHENOTYPICFEATURE$ mass in the head of the pancreas and @DISEASE$, which branched directly from the superior mesenteric artery.	false
+7b34b9f7fadc1555fb6f968b6bf49057ec0cb273	Here, we report the synthesis of nanogel-drug conjugates based on membranotropic cholesteryl-HA (@DISEASE$) for efficient targeting and suppression of drug-resistant @PHENOTYPICFEATURE$.	false
+2c98aeb516bd136981028a1ddd4103da55d6befb	Deviations of hematological parameters and alkaline phosphatase (ALKP) activity consequent to tumor growth are found to be recovered in @PHENOTYPICFEATURE$ bearing mice treated with @DISEASE$.	false
+ca8173fe607d0921b70f7286af18d10daa45ae79	Deviations of hematological parameters and alkaline phosphatase (ALKP) activity consequent to @PHENOTYPICFEATURE$ growth are found to be recovered in tumor bearing mice treated with @DISEASE$.	false
+a097b35ac0c152cf0950b134cff4f5a65f123664	Delayed intervention with @DISEASE$ (CON-CHA) produced a @PHENOTYPICFEATURE$ outcome similar to CON-CON (31 and 30%, respectively), it did not enhance colonic tumor incidence.	false
+53d8991179ad8213bffd76a3c5f5a867aea84764	The aim of this study was to investigate the use of a novel collagen-hydroxyapatite (@DISEASE$) bone graft substitute in the clinical treatment of a mandibular @PHENOTYPICFEATURE$ in a young horse and to assess its potential to enhance repair of the affected bone.	false
+9e06dead44e1ba8e1753138f68a833af010a65f4	The optimal cut-off levels of the distance between @DISEASE$ or SMA and the @PHENOTYPICFEATURE$, as determined by ROC analysis, were 20.55 and 10.9 mm, respectively.	false
+8570f40179cf4f5ed6ce0fe4703f82d1b4763f5f	Patients were divided into three groups based on the relationship of @PHENOTYPICFEATURE$ and CA/common hepatic artery (@DISEASE$) as well as different treatment strategies.	false
+ba0a95b58be573ffa9f1c2040fe60623758d7b05	Abdominal CT scan revealed a 30mm pancreatic head @PHENOTYPICFEATURE$ with involvement of the common hepatic artery(@DISEASE$)and proper hepatic artery(PHA).	false
+b982de9f83c4bed63f6a8351ba24f6aa9d532b60	The @PHENOTYPICFEATURE$ completely infiltrated the peripheral part of the @DISEASE$ and gastroduodenal artery.	false
+ce90e777aea968ba13152d1ad0afabfc7b55c2b1	Moreover, patients suffering from Diamond-Blackfan anemia, a @DISEASE$ caused by mutant ribosomal proteins are also at higher risk for developing leukemia, or solid @PHENOTYPICFEATURE$.	false
+8d961ce2aac5d818c91662b8099350f04ee34c75	FA, dyskeratosis congenita (DC), and Diamond-Blackfan anemia (DBA) are inherited @DISEASE$ (IBMFS) associated with high risks of bone marrow failure, leukemia, and solid @PHENOTYPICFEATURE$.	false
+bf36d836ff34b31607da20f2110bd10ea0e85a69	Diagnoses included leukemia (n = 43), solid @PHENOTYPICFEATURE$ (n = 27), @DISEASE$ (n = 12), non-malignant disease (n = 8), CNS tumors (n = 5) and immunodeficiency (n = 3).	false
+0e1eafb58f91df7a9cf3ac2df7faf17c8d888ea7	Fanconi anemia (FA) is a rare inherited @DISEASE$ associated with high risks of severe bone marrow failure (BMF), acute myeloid leukemia (AML), and solid @PHENOTYPICFEATURE$ (ST).	false
+4a6bd76e02ff1a14b77272da29ddf94b8d6a6daa	Dyskeratosis congenita (DC) is an inherited @DISEASE$ characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid @PHENOTYPICFEATURE$.	false
+c2fdd73ddb1abf41314d02f010da3e6e873f56da	Fanconi Anemia (FA) is an inherited @DISEASE$ characterized by congenital abnormalities, progressive marrow failure and predisposition to myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and solid @PHENOTYPICFEATURE$.	false
+24d6ba4f9e389ebe6a800f4898c16522c476c695	Steinert's disease or Myotonic dystrophy type I (DM1) is an autosomal dominant disease characterized by myotonia, muscular dystrophy, @PHENOTYPICFEATURE$, hypogonadism, frontal balding, and electrocardiographic alterations.Several tumors have been associated with DM1 such as @DISEASE$, thymomas and insulinomas.	false
+964cbc47b18678fa51a717de2eba163abd458ec0	@DISEASE$ is associated with childhood-onset generalized epilepsy with @PHENOTYPICFEATURE$ and/or atypical absence seizures.	false
+e9129a31c8ebead1f3ed59ed97e4f13b23b489ba	IH induced a ~2.2-fold increase in @DISEASE$ @PHENOTYPICFEATURE$ infiltration.	false
+970accb0e924c3610d5aced744d70b020ce9baab	Five-year CSS probabilities for patients with TAM-positive @PHENOTYPICFEATURE$ were 93.5%, compared with 72.5% in patients with @DISEASE$-negative tumours, respectively (P < 0.001).	false
+05cb6fc3de944a93c35d726f66bcd760c3ac1d5d	Five-year CSS probabilities for patients with @DISEASE$-positive @PHENOTYPICFEATURE$ were 93.5%, compared with 72.5% in patients with TAM-negative tumours, respectively (P < 0.001).	false
+2490363f2a2e71298fea770b0dff4ca41ad85fd3	Five-year CSS probabilities for patients with TAM-positive tumours were 93.5%, compared with 72.5% in patients with @DISEASE$-negative @PHENOTYPICFEATURE$, respectively (P < 0.001).	false
+40f609a149b633e02d7c738b4d06104f53a28d10	Five-year CSS probabilities for patients with @DISEASE$-positive tumours were 93.5%, compared with 72.5% in patients with TAM-negative @PHENOTYPICFEATURE$, respectively (P < 0.001).	false
+f2e23d69a835feea9bb0cfe2c43fe429178192d8	In recent times, most studies have analysed the role that @PHENOTYPICFEATURE$-associated macrophages (@DISEASE$) have on tumour progression.	false
+289716b9369ee32dda8543c622e9b47ee4fd1517	In recent times, most studies have analysed the role that tumour-associated macrophages (@DISEASE$) have on @PHENOTYPICFEATURE$ progression.	false
+6af86a82ddca20dfc3268ef1789e53bd84ff1a80	Patients without @DISEASE$ also showed alterations, such as atrophy and @PHENOTYPICFEATURE$, in TMJ images.	false
+5216b5b7c6cb1c199a7a2e1c92b1187630f8b21b	Endocrine therapy with @DISEASE$ is most cost-effective in ER-positive @PHENOTYPICFEATURE$ with no significant age effect.	false
+ba525ce7c768918f74b41de77bed1fe228d58846	and @PHENOTYPICFEATURE$ p53 overexpression correlated significantly with @DISEASE$ number (P = .007).	false
+1f01e2b6cd9528cb8b10b75b2e25068d6bd12108	No patient with @DISEASE$ and NG ever progressed to the extent of pronounced proteinuria or @PHENOTYPICFEATURE$.	false
+90785a2a67f6ca3d668f97fc8f20030b4ab32852	The following modified classification of @DISEASE$ was suggested: I. Masticatory muscular disorders, including myofascial pain, myositis, myospasm, unclassified local muscular pain, and fibrostic @PHENOTYPICFEATURE$; II.	false
+c8f4ef107bdf924f25b58bed9d10bf3ce1b68cc7	The resistant 3366/@DISEASE$ @PHENOTYPICFEATURE$ have lost this regulation.	false
+0b4c54e37b44abd74a15e7d6a50dd77286fb45b7	The rate of tumour @DISEASE$ accumulation correlated with duration of therapy only for ER-ve tumours (r = 0.72, p < 0.02), whereas for ER+ve @PHENOTYPICFEATURE$ the absolute ER value appeared to be weakly associated with TAM accumulation (r = 0.41; p < 0.05).	false
+6c1c4bcdca531214f526aa146d07310b2e9b2f81	The rate of tumour TAM accumulation correlated with duration of therapy only for ER-ve @PHENOTYPICFEATURE$ (r = 0.72, p < 0.02), whereas for ER+ve tumours the absolute ER value appeared to be weakly associated with @DISEASE$ accumulation (r = 0.41; p < 0.05).	false
+57322339586899427860df42c5ceaa8577b4a768	The rate of tumour @DISEASE$ accumulation correlated with duration of therapy only for ER-ve @PHENOTYPICFEATURE$ (r = 0.72, p < 0.02), whereas for ER+ve tumours the absolute ER value appeared to be weakly associated with TAM accumulation (r = 0.41; p < 0.05).	false
+99ae5a6273474bd0691cbd41a41ca7ac4ed3a000	The rate of tumour TAM accumulation correlated with duration of therapy only for ER-ve tumours (r = 0.72, p < 0.02), whereas for ER+ve @PHENOTYPICFEATURE$ the absolute ER value appeared to be weakly associated with @DISEASE$ accumulation (r = 0.41; p < 0.05).	false
+ec4cc9bbf5550a81dfe943366881b4b602a3f33c	The rate of @PHENOTYPICFEATURE$ @DISEASE$ accumulation correlated with duration of therapy only for ER-ve tumours (r = 0.72, p < 0.02), whereas for ER+ve tumours the absolute ER value appeared to be weakly associated with TAM accumulation (r = 0.41; p < 0.05).	false
+b88a23f4512b4fab43a56ec909d439381665710f	The rate of @PHENOTYPICFEATURE$ TAM accumulation correlated with duration of therapy only for ER-ve tumours (r = 0.72, p < 0.02), whereas for ER+ve tumours the absolute ER value appeared to be weakly associated with @DISEASE$ accumulation (r = 0.41; p < 0.05).	false
+0c9ee540dd75d726a85f40ac32ae0c3347084e44	@PHENOTYPICFEATURE$ in @DISEASE$: is there a pathogenic role for neural crest cells?	false
+27041765ba042849c2d420bd2d0e22c0cee81682	@DISEASE$ is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), @PHENOTYPICFEATURE$, distal digital hypoplasia, and other associated malformations, and is the most common syndromic form of CDH.	false
+1035ce95adbfdff951a3d7e4ae87d3aec92e0ed4	Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, seizures, and @PHENOTYPICFEATURE$ in some individuals, with a clinical diagnosis of @DISEASE$ in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum.	false
+2b890248c03ae1f259766febbc443885b147e322	@DISEASE$ is a rare human genetic syndrome that is an autosomal recessive disorder characterized by lung hypoplasia, diaphragmatic hernia, craniofacial malformations, skeletal malformations, @PHENOTYPICFEATURE$, and genitourinary malformations.	false
+94271d47c3eb1995761cc02a33720f9ff4931422	Abnormal eye findings occasionally reported in @DISEASE$ potentially result in amblyopia and @PHENOTYPICFEATURE$, profoundly affecting neurologic outcome of those who survive the neonatal period.	false
+adb520d6bb2d9fb2f975e8a62ea49b139a4f24de	@DISEASE$ is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, @PHENOTYPICFEATURE$, and distal limb hypoplasia.	false
+a8803869284df8f4de8bf48ccc1d5bbf072a488d	@DISEASE$ (OOM) is characterized by renal phosphate wasting and @PHENOTYPICFEATURE$ of vitamin D, somewhat similar to the phenotype of X-linked hypophosphatemic rickets (HYP).	false
+ec65e1a0718f647c3df7aeaa8658890a75aaa006	Methods Chemotherapy induced myelosuppression model was established in Lewis @PHENOTYPICFEATURE$ bearing mice by intraperitoneal injection of cyclophosphamide (@DISEASE$).	false
+c05e93e2ee363299f2a8f788d9dab47b72ab22f1	@PHENOTYPICFEATURE$ were more frequent in @DISEASE$ group.	false
+d9c131208fb52fbee064b589169835b10c2e2fa1	@DISEASE$/MET) and @PHENOTYPICFEATURE$ (17.7% TGC vs. 13.2%	false
+f5c009947db5b6667e59c700a94d22a0e516e037	(The most frequently reported adverse events (AEs) for both treatment arms were nausea (TGC, 38.6% vs @DISEASE$/MET, 27.7%) and @PHENOTYPICFEATURE$ (TGC, 23.3% vs CTX/MET, 17.7%).	false
+8c525826ae60f8ee45d5622270b255a1e4893f9c	(The most frequently reported adverse events (AEs) for both treatment arms were nausea (TGC, 38.6% vs CTX/MET, 27.7%) and @PHENOTYPICFEATURE$ (TGC, 23.3% vs @DISEASE$/MET, 17.7%).	false
+afd5f7a2bd8a28ab22e9492fc5fa29bdc57d7699	Although more frequently associated with dizziness and @PHENOTYPICFEATURE$, MQ-IPTp may be an effective alternative given concerns about parasite resistance to @DISEASE$.	false
+3883783f2cd73bf1ba0a5fe0428cf983a479560c	We suggest that, awareness of intention tremor and @PHENOTYPICFEATURE$ in addition to mental retardation, peripheral neuropathy and early osteoporosis can be suspicious for @DISEASE$ and lead diagnosis.	false
+f6b23caeb5cbd035fd7dd1b4d7a4b7c461a208ce	(3)The rate of liver functional impairment, leukocytopenia, @PHENOTYPICFEATURE$ and nausea was 10%, 16.7% and 33.3%, respectively in children receiving @DISEASE$.	false
+989be9712e83c37c9dfbc717ce3c8daccb0f2655	Although @PHENOTYPICFEATURE$ were common reasons for @DISEASE$ withdrawal, they were noted in only some studies, and no major organ toxicity was observed.	false
+25ecb173316917af994d6603e572d46cc588d7b4	We report varicella-zoster virus (VZV) gastritis in a 70-year-old woman postchemotherapy for @DISEASE$, presenting with @PHENOTYPICFEATURE$, vomiting, and delirium without rash.	false
+7d90b2d98ad7a85d08d2963a7443b35ebf06d4ae	We report varicella-zoster virus (VZV) gastritis in a 70-year-old woman postchemotherapy for @DISEASE$, presenting with abdominal pain, @PHENOTYPICFEATURE$, and delirium without rash.	false
+ad45043173f3ce773d3cbc303cad277e17caffb1	@PHENOTYPICFEATURE$ C, Helicobacter, @DISEASE$...and liver transplantation.	false
+edf5cd2dcbb03285e3b123f2b206d3a1222e8bde	Two patients with @DISEASE$ and Pseudomonas aeruginosa @PHENOTYPICFEATURE$ died.	false
+d122194a79f2a62fe9ea2e6097ade1ddab112e37	There were 2, 1 and 1 ITP patients progressing respectively to Sjogren' s syndrome, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ef4a4204e5aa7a9fe864b679df08101037ab5e32	Differential diagnosis includes @DISEASE$, lymphadenitis associated with @PHENOTYPICFEATURE$, and even adenocarcinoma.	false
+6f71ee1401cd076b16ec9ba8d1619a85a3c8973f	[Sj?gren's syndrome with @DISEASE$, interstitial @PHENOTYPICFEATURE$, and pulmonary hypertension].	false
+a618291f980b9413f4709ad5eefe452c776f467d	Patients with thrombosis had either underlying @PHENOTYPICFEATURE$, @DISEASE$, or no apparent etiology for LA.	false
+9b34cb64b99aa88c59083ea49ab7e7744bae98f0	Well-differentiated lymphocytic @DISEASE$ with peripheral blood involvement, @PHENOTYPICFEATURE$ bone lesions, and hypercalcemia.	false
+8de65e671699d69a11b6dcc2700ab5c235df3450	These were found in patients with @DISEASE$, vertebral @PHENOTYPICFEATURE$, and following radiotherapy and extensive surgical procedures.	false
+7de98ce1f8c1cb248c0bf037ddab781b000aa3a2	Among these ribose conjugates, four ribose conjugates increased more than two folds in both gastric cancer and esophagus cancer; three ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and @DISEASE$; one ribose conjugate increased more than two folds in both esophagus cancer and lymphoma.	false
+4346c0e4d9766681a13cba0ee800aff415f110ae	Among these ribose conjugates, four ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and esophagus cancer; three ribose conjugates increased more than two folds in both gastric cancer and @DISEASE$; one ribose conjugate increased more than two folds in both esophagus cancer and lymphoma.	false
+9810bead8eb00cb813cc421df5eb7a9f8ab612dc	Among these ribose conjugates, four ribose conjugates increased more than two folds in both gastric cancer and esophagus cancer; three ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and lymphoma; one ribose conjugate increased more than two folds in both esophagus cancer and @DISEASE$.	false
+bf7e424a16b34c8b4e92c20239a58b40ea704d14	Among these ribose conjugates, four ribose conjugates increased more than two folds in both @PHENOTYPICFEATURE$ and esophagus cancer; three ribose conjugates increased more than two folds in both gastric cancer and lymphoma; one ribose conjugate increased more than two folds in both esophagus cancer and @DISEASE$.	false
+0bc7c02761d90be1afc4a1add16d98dcbec39a55	The @DISEASE$ is characterized by mental retardation, relatively specific facies, absent or dysplastic patellas, joint contractures, plantar/palmar furrows, distinctively abnormal toe posture, vertebral anomalies, narrow pelvis, ureteral-@PHENOTYPICFEATURE$, or other abnormalities.	false
+6bed7242a5bd1204d2108422ef1a3cc0e0b5a31c	The @DISEASE$ is characterized by mental retardation, relatively specific facies, absent or dysplastic patellas, @PHENOTYPICFEATURE$, plantar/palmar furrows, distinctively abnormal toe posture, vertebral anomalies, narrow pelvis, ureteral-renal anomalies, or other abnormalities.	false
+a88bbdccf8c0a13d0bf546563dc3d9bbfd890172	Clinical features include @PHENOTYPICFEATURE$ with oral, dental and distal abnormalities, @DISEASE$ and central nervous system malformations.	false
+065b9837e9fb09f712f29372dd3c8c9861897ec2	Moreover, they demonstrate two unexpected pathologies resulting from cell death, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f2baeb2cedafa5069bd820a31142225fb9d00959	Moreover, they demonstrate two potentially oxidation related pathologies: @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9524aabbc81796919d9b767073fa894b5dece984	We describe a patient with declining renal function due to @DISEASE$, who then insidiously develops bilateral @PHENOTYPICFEATURE$.	false
+072e01f8f6c27c543a7ee7285830cc426f12c70d	Here's what you need to know about @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2e76910d40b6d3331f7598d108fcc396fd422706	A patient had unilateral @PHENOTYPICFEATURE$ and, at the same time, bilateral @DISEASE$.	false
+ced70da7812d7a5a7349956c9a1dab5b2c6b4c69	Obstructive kidney disease is a common urologic diagnosis and includes kidney stones, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0661ff316a8ef2a937b66930b5ca4f8e03e51816	Association of @PHENOTYPICFEATURE$ with @DISEASE$ as shown by cardiac magnetic resonance imaging.	false
+9d58ecba60e88402c095e2d37bd46c85086196e1	Clinical features include @PHENOTYPICFEATURE$ with oral, tooth, and distal abnormalities, @DISEASE$, and central nervous system malformations.	false
+ae68da05b12afe8ff34bd5edad5c3a0af2872412	Renal sonography is able to identify most mice with @DISEASE$ prior to the development of abdominal enlargement and @PHENOTYPICFEATURE$, and shows promise for future applications in animal research.	false
+4a636c5609a8abfdc62e260ee39f256256ac4371	Histopathologic evaluation of the @PHENOTYPICFEATURE$ revealed @DISEASE$.	false
+32e8c556b4bfe1568ce9536628efc3df6c87bf39	@DISEASE$: A rare oral @PHENOTYPICFEATURE$.	false
+7d3dbbddf0e9fcb9bb8e7328bbf1446a300317b8	[Mesenteric @PHENOTYPICFEATURE$ (alveolar @DISEASE$)].	false
+cddf84a71e0810626504a28fec6f0153dd489a02	Histologically, all @PHENOTYPICFEATURE$ were subclassified as @DISEASE$.	false
+5225d8c7da234fc364d875e03648338c9ac22e9f	Three hundred thirty-nine @PHENOTYPICFEATURE$ were regarded as @DISEASE$.	false
+2890ae11520f57c822e45b12f96642d33895cbe2	In 10 children the @PHENOTYPICFEATURE$ histology was @DISEASE$.	false
+e5e2614629354a2e5f4e6d7b2fc5c077a6e0e204	[@DISEASE$ presenting as @PHENOTYPICFEATURE$ of unknown origin].	false
+5eedbd1f860c82fad3ad2b92773c2017c1c930ad	@DISEASE$ is a uncommon @PHENOTYPICFEATURE$ in the adult.	false
+14e24f2dfde17c95a6f2a10bf03cafd1e9529c80	@DISEASE$ arising in a germ cell @PHENOTYPICFEATURE$.	false
+733738ae7c464665dbfd00082e716679b0bd0a62	@DISEASE$ is an exceedingly rare @PHENOTYPICFEATURE$ in adult.	false
+61f792a031facd51ff0ad48bdb52e8680c5a2dd3	Before and after five days of the insulin treatment the effects on pain relief (SFMPQ-VAS), the quality of life improvement (EuroQol EQ-5D), and @PHENOTYPICFEATURE$ (@DISEASE$) were assessed.	false
+aaf04a1e11e36270482a881ff2ad2ff6b8116fab	The Athens Insomnia Scale (@DISEASE$) and Pittsburgh Sleep Quality Index (PSQI) were used to evaluate a spectrum of @PHENOTYPICFEATURE$.	false
+9ce06025144b41dd2e93211aef585c45be0b95ab	We report on a 6-year-old boy who, in addition to the CGKD phenotype described above, had ocular @PHENOTYPICFEATURE$ consistent with Forsius-Eriksson ocular albinism, also known as type 2 ocular albinism or @DISEASE$.	false
+04bc119e171f7714986095266563eba704597eca	Acute ischemic stroke (@DISEASE$) may experience early @PHENOTYPICFEATURE$ (END) and have high risks of recurrent ischemic strokes (RIS), which are often associated with a poor outcome.	false
+aac3f332b5d30acbf76aefef56f5a10ee7962ddc	@PHENOTYPICFEATURE$ were diagnosed in subjects with @DISEASE$ score ?6.	false
+aaf04a1e11e36270482a881ff2ad2ff6b8116fab	The Athens Insomnia Scale (@DISEASE$) and Pittsburgh Sleep Quality Index (PSQI) were used to evaluate a spectrum of @PHENOTYPICFEATURE$.	false
+122ed51ca7cc38798bf68b387354febb2be23e81	The Actiwatch parameters are consistent with the results of the @DISEASE$-T, and both data sets indicate that patients experienced @PHENOTYPICFEATURE$.	false
+993ec5354bbae75a7a1d490a14b021594e96b897	Aland Island Eye Disease (@DISEASE$) is an X-linked form of ocular @PHENOTYPICFEATURE$--also known as Forsius-Eriksson, or type 2, ocular albinism--in which affected males demonstrate subnormal visual acuity, protanomalous red-green colorblindness, axial myopia, astigmatism, hypoplasia of the fovea, and hypopigmentation of the fundus.	false
+e723923c7bb5ae610ab46d4d4f87fd52688eddf3	Also, there is no study that has directly compared the results of @PHENOTYPICFEATURE$ correction between non-dystrophic scoliosis in NF-1 and adolescent idiopathic scoliosis (@DISEASE$).	false
+61fd599cb3234207711b16750b7765e5b640e0bd	10-40% of patients with acute ischemic stroke (@DISEASE$) suffer an early @PHENOTYPICFEATURE$ (END), which may influence their long term prognosis.	false
+b632450dd586c8494abbb7d146eaaaff621f5e1c	This paper reports the first Austrian case of infantile @DISEASE$ in a girl aged 19 years, presenting with congenital skeletal dysplasia, reduced body weight and slowly progressive limb girdle @PHENOTYPICFEATURE$, myopathic face and difficulty in swallowing.	false
+dfefb9248aea6946845631c259a253e0e7a89dad	The third group, characterized by localized @PHENOTYPICFEATURE$ of the cerebral cortex, has recently been termed acute encephalopathy with febrile convulsive status epilepticus, and includes hemiconvulsion-hemiplegia syndrome and @DISEASE$.	false
+2926bc05fc2aedd9c351c166dd681716b1152c7e	Here, we investigated whether the overnight consolidation of declarative memory in patients with chronic @PHENOTYPICFEATURE$ is impaired, owing to less slow wave sleep (@DISEASE$) and an increased cortisol release.	false
+dbec7e3b7e06f359f4fb33da14b548349f0e4be8	Recordings were scored according to the polygraphic criteria for wakefulness (W), @PHENOTYPICFEATURE$ (D), slow wave sleep (@DISEASE$) and paradoxical sleep (PS).	false
+5c29b06ca445afe20e23e2ba7b3b59d6a57e8971	In adult geese, chronic polygraphic recordings of EEG, EOG, EMG, ECG and respiratory rate completed with behavioral observations allowed the characterization of four states of vigilance: wakefulness (W), @PHENOTYPICFEATURE$ (D), slow wave sleep (@DISEASE$) and paradoxical sleep (PS).	false
+71a6c79198d3a48bc80a0c8397c14d9cb27026c8	Electrical stimuli of various intensity were delivered either to the mucosal surface of a fistula of the small intestine or to the left splanchnic nerve during wakefulness (W), @PHENOTYPICFEATURE$ (D), slow-wave-sleep (@DISEASE$), and paradoxical sleep (PS).	false
+e5fcbab7b2d9ac527c237c6a8db57eb3df21fcaf	First, penicillin increased light slow wave sleep (@DISEASE$) and @PHENOTYPICFEATURE$, during which spike-wave (SW) activity was maximal.	false
+5d0f9253637812ac0aec14e4af1f27e11c6199c4	Slow wave sleep (@DISEASE$) was significantly different (P < .05) in frequency and power from @PHENOTYPICFEATURE$ and rapid eye movement (REM) sleep.	false
+bc2dc5e4cfa28d90c836c8aa16277bd929566fe6	Wakefulness (W), @PHENOTYPICFEATURE$ (DR), slow-wave sleep (@DISEASE$) and paradoxical sleep (REM) occupied respectively 46.5%, 15.9%, 26.7% and 10.9% of the 24 hr period.	false
+1cae4ff3dd534dc9c5b98822db2c952487d1e99f	Five different states of vigilance were observed throughout the nyctohemeral period: active wakefulness (AW), quiet wakefulness (QW), @PHENOTYPICFEATURE$ (D), slow wave sleep (@DISEASE$) and rapid eye movement (REM) sleep.	false
+694aedb077e781dfcdd0751bbb8d2d295af4c002	Comparison of our results with previous studies on @DISEASE$ and REM sleep disturbances after open laparotomy, suggests that the magnitude of surgery or administration of opioids, or both, may be important factors in the development of postoperative @PHENOTYPICFEATURE$.	false
+20a3432d8d4beabe150ae9d5acdfb2a2f79db7e4	Sturge-Weber syndrome (@DISEASE$) is a neurocutaneous disorder that is typically associated with @PHENOTYPICFEATURE$.	false
+5eb8a70dabc385bd19be03e00334292a4214df07	@DISEASE$ (SWS) is a neurocutaneous disorder that is typically associated with @PHENOTYPICFEATURE$.	false
+d4e2c2065c5a82986db5cbcc3be39bebb398ed3a	Though @DISEASE$ (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia.Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of @PHENOTYPICFEATURE$ may impede its identification through an accurate diagnosis.	false
+0a6f52a58e73331ed3074ad1e347896bfcd62fab	Though @DISEASE$ (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with @PHENOTYPICFEATURE$, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia.Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis.	false
+14bd39e332e5637fbd018ce2da8fd5bd76be19d2	Laboratory work-up revealed panhypopituitarism (central hypothyroidism, @PHENOTYPICFEATURE$, adrenal insufficiency and @DISEASE$).	false
+cd51f1a991b0745d5dc1f37887b33b289ef9b9c1	In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated @PHENOTYPICFEATURE$, @DISEASE$, vertebral anomalies, eye anomalies, and cardiac malformations.	false
+bf27cde1e3301187e0f84fcbbdbde7e1f3574ff8	We report a child with @PHENOTYPICFEATURE$ complicating @DISEASE$.	false
+975adedf473b466a2519b1ddec4cb609bfd08baf	He had previously suffered from orbital myositis, @DISEASE$ (DI), peripheral neuritis, and @PHENOTYPICFEATURE$.	false
+8bff6ebdee196febf4dba93d31ad33c0e170618d	Laboratory tests revealed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+562272fc9e989809b34dda75ee248d234a31cc7f	To summarize our experience in the management of adipsic @DISEASE$(ADI) accompanied with @PHENOTYPICFEATURE$.	false
+0a0a12df46327e1c1616a2941fd37da0d07e8592	However, other unknown factors may be involved, because up to now there have been no reports of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+be196beff08bb8331868389d6efd98f2a2dd4933	This case illustrates that a beta hCG-germ cell tumour of the suprasellar region causing hypopituitarism can mask the presence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a7377676daa5aca29fbefda1e26a6f904cb1d429	This case illustrates that a beta hCG-germ cell @PHENOTYPICFEATURE$ of the suprasellar region causing hypopituitarism can mask the presence of @DISEASE$ and hypogonadotrophic hypogonadism.	false
+f2ec72e2251e92b9ef0fdfed2ebdc308fe8150ae	Postpartum hemorrhage complicated with irreversible @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fea27956171fdf8b6ce3d5d759f0aeafe7cbaeea	Wolfram syndrome (WS) is an @PHENOTYPICFEATURE$ neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), @DISEASE$ (CDI) and deafness (D).	false
+ee03494911da43533ec337dac39aa4c33dd7e485	During his clinical course he had suffered from various disorders as follows; AIHA, interstitial @PHENOTYPICFEATURE$, @DISEASE$, chronic gastroenterocolitis and so forth.	false
+bce09c99075ee8b8c60f13ca552bce35b63f1b6a	Hermansky-Pudlak syndrome (@DISEASE$) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, @PHENOTYPICFEATURE$, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin.	false
+432f1ceac9d66b12e7060c6ca763a3552a7584bc	@DISEASE$ associated with autoimmune diseases is seen in patients with systemic juvenile idiopathic arthritis, adult-onset Still's disease, and @PHENOTYPICFEATURE$, whereas it is rarely seen in patients with dermatomyositis.	false
+47e7ad8320a8c446da20f4d57210d6d2940663c4	Ocular findings in @DISEASE$ include @PHENOTYPICFEATURE$; congenital nystagmus, strabismus and cataract.	false
+865685f5c2898f5d7be385fedf78c98ff215dc33	In this report, we discuss the pathological lung features and treatment of @DISEASE$ associated with interstitial @PHENOTYPICFEATURE$.	false
+229dfba32670b6175e59f9af58c797d7734ab43b	Hepatopulmonary syndrome (@DISEASE$) is an important cause to be aware of in the setting of liver disease, @PHENOTYPICFEATURE$ and hypoxaemia.	false
+8a66438caadea810ce5065b612143a31ab4bd622	Patients with a combination of holoprosencephaly and @PHENOTYPICFEATURE$, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly-polydactyly syndrome (@DISEASE$), also termed pseudotrisomy 13.	false
+a5743295e1c95f386923989cdfa83da76cffe4c6	Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly-@PHENOTYPICFEATURE$ syndrome (@DISEASE$), also termed pseudotrisomy 13.	false
+518264650227958fe9ee349da1a6a248cae493ca	@DISEASE$ patients display oculocutaneous hypopigmentation and bleeding diathesis and, depending on the disease subtype, pulmonary fibrosis, congenital nystagmus, @PHENOTYPICFEATURE$, and platelet aggregation deficiency.	false
+d9bed96c771f93c3d52a368be0e842f94bc00307	A 36-year-old woman was given a diagnosis of @DISEASE$ associated with @PHENOTYPICFEATURE$, and was treated with high-dose methylprednisolone and etoposide.	false
+43251a787491f2f002d230e848e3f9b064ba959c	@PHENOTYPICFEATURE$ was more often present in patients with "clinically significant" HPS (57%) compared with "subclinical HPS" (8%), and patients without @DISEASE$ (6%).	false
+4eeb6777d527fd3ce251285bd73093b101ff0c0b	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, @DISEASE$, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+69461a65352486b2236a7eb479dd440611726776	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the @DISEASE$ (OMIM 616682) characterized by intellectual disability, @PHENOTYPICFEATURE$ and seizures.	false
+a185157c62ac52a92b05d42da4c76e0c507d3646	the cloning of CHX10 at this locus and the identification of recessive CHX10 mutations in two families with non-@DISEASE$ (MIM 251600), @PHENOTYPICFEATURE$ and severe abnormalities of the iris.	false
+2c314323a1a9ddc59cae35f6718236e0b2a72877	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with @PHENOTYPICFEATURE$, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+7758cf1ca8e42fe842a94187e4b00c1d490bc1ce	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving @PHENOTYPICFEATURE$, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, failure to thrive, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+6377fc1d0cefb0631fc36ab9207cbe9dd3ced110	Probable or possible multiple system atrophy (MSA) was diagnosed on strict clinical criteria in 42 patients: 20 with combined parkinsonism and @PHENOTYPICFEATURE$, 9 with @DISEASE$ (SND) and 13 with olivopontocerebellar atrophy (OPCA).	false
+19885f545ab34ce120e26252a67a93eaa9c238a7	@DISEASE$ is a skeletal disorder characterized by craniosynostosis associated with foot and @PHENOTYPICFEATURE$.	false
+93544288516bfe67794d213c1f18d82c68e80e54	Eleven children with @DISEASE$ (mean age 5.9 years) underwent behavioral assessment and brain diffusion tensor imaging, Twenty four controls with isolated @PHENOTYPICFEATURE$ (mean age 6.4 years) underwent MRI, 11 of whom also completed behavioral assessments.	false
+2e5b78297a99cbb0a4964e7d055f6bdc75e7e796	Identification of human T cell leukemia virus in a Japanese patient with adult T cell leukemia and cutaneous @DISEASE$ @PHENOTYPICFEATURE$.	false
+9743b9d65056793b9bc3503d6dbd5712e8f3c5c4	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and @PHENOTYPICFEATURE$), bone tuberculosis (13 cases), meningioma(9 cases), bone cysts (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases @DISEASE$ (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+70911d6c9fab76c0fae26dbacfc43bdc416f8ac6	Clinically, 77 cases (48.1%) were misdiagnosed as bone tumors (28 cases, including giant cell tumor, fibrous dysplasia, chondroblastoma, osteoblastoma and osteosarcoma), bone tuberculosis (13 cases), meningioma(9 cases), @PHENOTYPICFEATURE$ (5 cases), chronic osteomyelitis (5 cases) and diabetes insipidus (5 cases) , skin (4 cases) diseases @DISEASE$ (4 cases), chronic skin ulcers (4 cases), chronic otitis media (1 case), lung (1 case) and oral cancer (1 case).	false
+9ad11b37b28760847fda621e1674a00ff364b9e8	An 11-year-old, male castrated English springer spaniel was presented for @PHENOTYPICFEATURE$, lethargy and anorexia while undergoing treatment of Stage IV @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+e40d8316f7e2a395a2c41b7ec9f2eee8b9df9886	Confusion between severe AD and @PHENOTYPICFEATURE$ may account for part of the increased risk of @DISEASE$ in patients with AD.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+4e8625168ea79a60fe73bc75104f963fa614f0be	@DISEASE$ presenting with nonoliguric @PHENOTYPICFEATURE$.	false
+6ceda84148ee0013933e80d381c75cedbf3b6789	Disseminated @DISEASE$ presenting as acute thigh pain and @PHENOTYPICFEATURE$.	false
+f90ed26bda42d0a886e785f6c0bf11bbc38f555a	Crescentic glomerulonephritis and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+586c8e8308f1f45cf2a552f638a6ead3c384d334	Enteric bacterial infections, cytomegalovirus, histoplasmosis, amebiasis, systemic @PHENOTYPICFEATURE$, @DISEASE$, etc. should be suspected in appropriate clinical settings.	false
+e7301140b5035f75a4507fbacb8ad53647e49f17	Using technetium hexamethyl propylamenamine oxide (HMPAO) or ethyl cysteinate dimer (@DISEASE$), these scans were done in 52 patients with partial and secondarily @PHENOTYPICFEATURE$.	false
+2397f92821553fdc45e6a716167382b62243ba54	@PHENOTYPICFEATURE$ is present at the onset of @DISEASE$ and persists in attenuated but stable form after the resolution of psychotic symptoms.	false
+cd5373fbbb4844d5ec7ee700616be8238dd69467	@DISEASE$ has become a diagnosis familiar to allergists and immunologists who treat pediatric patients presenting with complaints of recurrent vomiting, feeding difficulty, @PHENOTYPICFEATURE$, dysphagia, and food impaction.	false
+f2eb6f6dc7efea156b3022a637349e8e6c5159ae	However, whether patient-identified domains (dysphagia, gastroesophageal reflux disease [GERD], nausea/@PHENOTYPICFEATURE$, and pain) align with clinical symptomology and histopathologic and molecular features of @DISEASE$ (EoE) is unclear.	false
+cf68ba1361e2b6a6662f426adb6dee8748890435	Individual or family histories of anxiety and pre-drug use complaints of @PHENOTYPICFEATURE$, eye floaters, and concentration problems may predict vulnerability for @DISEASE$.	false
+33d856b72432e2e1b747a9110c3f8a1506940afe	Typical @DISEASE$ is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of M?ni?re-like attacks (nausea, @PHENOTYPICFEATURE$, tinnitus, vertigo and hearing loss).	false
+002597798ab81507ef97b2e0387479a95687e726	Sudden and progressive sensorineural hearing loss is discussed, in addition to some of the systemic autoimmune disorders commonly associated with immune-mediated audiovestibular pathology such as @DISEASE$, @PHENOTYPICFEATURE$, Behcet's disease, Sjogren's syndrome, and juvenile idiopathic arthritis.	false
+cb969114628cdfc3e1f97539cd09b993b4806499	Anterior @PHENOTYPICFEATURE$: a separate entity from @DISEASE$.	false
+cb969114628cdfc3e1f97539cd09b993b4806499	Anterior @PHENOTYPICFEATURE$: a separate entity from @DISEASE$.	false
+0df154250d43fbd9f47fd9e4d9acd75b3e14f274	Associated systemic findings included @DISEASE$ (2), club feet or other limb anomalies (8), @PHENOTYPICFEATURE$ (8), tongue malformations (17), cleft palate (5), and speech problems (18).	false
+11125f1aba64af3f3f3dda1121eaf795d6b1e521	The authors report a case of M?bius syndrome with @DISEASE$, cleft palate, dextrocardia, @PHENOTYPICFEATURE$, and multiple areas of diffuse brain volume loss.	false
+b3de29c8959c407178082c2d30eafea7e3d75619	The WNKs and many of the cation-coupled Cl(-) cotransporters they regulate are highly expressed in the central nervous system and recent work suggests that WNK dysfunction may have a role in the development of @PHENOTYPICFEATURE$, schizophrenia and @DISEASE$. Finally, the WNK-sterile 20 kinase signalling axis represents an evolutionarily ancient mechanism for maintaining osmotic homeostasis, but a rapidly expanding body of evidence also shows a role in immunity and cellular regulation.	false
+ba227a6e678ae5341591dd81e51e2c93ad4cbad5	Patients have been followed-up without stents except for the patients who had @DISEASE$ and @PHENOTYPICFEATURE$ at the beginning.	false
+fb168aa3261bf7343296f31638ca7b27440863a2	All @PHENOTYPICFEATURE$ were @DISEASE$.	false
+9c083b72b7e4b27db26a6d56ba4ddab81617952b	People with @DISEASE$ typically have a marfanoid habitus, @PHENOTYPICFEATURE$, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.	false
+5d3f3c45be5b350af95f5ec0ec730a2df7957256	Significantly, the mother exhibited a classic @DISEASE$ phenotype with arachnodactyly, @PHENOTYPICFEATURE$, and abnormal pinnae, whereas her daughter exhibited a markedly more severe CCA phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy.	false
+460ad911050c02b307b071900589a5448d51ec37	Significantly, the mother exhibited a classic CCA phenotype with arachnodactyly, @PHENOTYPICFEATURE$, and abnormal pinnae, whereas her daughter exhibited a markedly more severe @DISEASE$ phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy.	false
+f1711de25fda99481c5e42212655fc52100d8072	@DISEASE$ masquerading as an ovarian @PHENOTYPICFEATURE$.	false
+d60a2dc9991910e0b5b764f4efadc5d818c90dae	To characterize such cholangiocarcinomas, we examined immunohistochemically the expression of MUC3, MUC5AC, MUC6, and MUC7 apomucins in hepatic tissue specimens from 4 patients with cholangiocarcinoma and viral @PHENOTYPICFEATURE$, 24 patients with @DISEASE$ without cirrhosis, and 16 patients with combined hepatocellular-cholangiocellular carcinoma.	false
+e319e8339e7fcb4b51a80a2b28663ac9047027cc	To characterize such cholangiocarcinomas, we examined immunohistochemically the expression of MUC3, MUC5AC, MUC6, and MUC7 apomucins in hepatic tissue specimens from 4 patients with @DISEASE$ and viral @PHENOTYPICFEATURE$, 24 patients with cholangiocarcinoma without cirrhosis, and 16 patients with combined hepatocellular-cholangiocellular carcinoma.	false
+8febc49161d49762decb4df8bf345760d9878f7b	To characterize such cholangiocarcinomas, we examined immunohistochemically the expression of MUC3, MUC5AC, MUC6, and MUC7 apomucins in hepatic tissue specimens from 4 patients with cholangiocarcinoma and viral @PHENOTYPICFEATURE$, 24 patients with cholangiocarcinoma without cirrhosis, and 16 patients with combined hepatocellular-@DISEASE$.	false
+a20d2cea017dca5d8e708504939f0e852762d69f	@DISEASE$ (CCA) is a @PHENOTYPICFEATURE$ with increasing prevalence around the world.	false
+4655f9f096ad6ab102f85cacce6dcf1b78f61f1f	Cholangiocarcinoma (@DISEASE$) is a @PHENOTYPICFEATURE$ with increasing prevalence around the world.	false
+3be25aaa26d1595addc07b828bb02f91243462e1	The imaging features of combined hepatocellular @DISEASE$ @PHENOTYPICFEATURE$ overlapped with those of HCC and cholangiocarcinoma.	false
+ed4445b13ce6a17f2bd50d545601c3988a189179	The imaging features of combined hepatocellular cholangiocarcinoma @PHENOTYPICFEATURE$ overlapped with those of HCC and @DISEASE$.	false
+c8f1aa40e30428296a9ed0edc41404b7f60d2118	@DISEASE$ (CCA) is a biliary epithelial @PHENOTYPICFEATURE$ with poor prognosis.	false
+42345c25576131906e6c478a6754727253a5d8c1	Cholangiocarcinoma (@DISEASE$) is a biliary epithelial @PHENOTYPICFEATURE$ with poor prognosis.	false
+f60c4d950f88630ecf9f16b785e7c954dce72d18	Outcomes were compared according to the type of @PHENOTYPICFEATURE$: cholangiocarcinoma or non-@DISEASE$.	false
+6ef95c6576d45d0f9023ce5efe0a4833968c090f	Outcomes were compared according to the type of @PHENOTYPICFEATURE$: @DISEASE$ or non-cholangiocarcinoma.	false
+081ed4dead717ef07559ed565b19b4c88b6dfd33	antibiotics (piperacillin/tazobactam) or vancomycin, systemic @PHENOTYPICFEATURE$, or idiosyncratic reactions to medications such as @DISEASE$.	false
+092d6cd6efd90845ae9b5c608ac53fa40bae197c	Main preoperatives diseases were pterygium (76 patients), superior limbic keratoconjunctivitis (4 patients), limbal @PHENOTYPICFEATURE$ (4 patients), conjunctivochalasis (21 patients), bullous keratopathy (31 patients), limbal stem cell deficiency (7 patients), alkali injury (6 patients), @DISEASE$ (2 patients), cataract (5 patients) and glaucoma (5 patients).	false
+a0a206592e9f7b0ffa22a7e543129dbd9540806d	His condition mimicked @DISEASE$ and responded to @PHENOTYPICFEATURE$ resection and immunosuppressive therapy.	false
+78ffb2cc01daef8dbf7a37e94756420367d9aa7c	Amniotic membrane can be utilised in persistent of recurrent corneal epithelial and stromal defects; in cases of corneal perforation due to ulcer or melting; after conjunctival excision for acquired melanosis, @PHENOTYPICFEATURE$, etc; in cases of pemphigoid, @DISEASE$, chemical bums; in cases of symblepharon, in dry eyes or in large leaking filtering blebs.	false
+f57901c001b197fe84ff88bac295e2c58b763d90	In addition to aiding the diagnosis of viral, bacterial, and fungal diseases, mineral oil preparation, Tzanck smear, and other techniques can be used to diagnose parasitic infections, neonatal pustular dermatoses, blistering diseases, @DISEASE$, and a plethora of other benign and malignant conditions, including granulomatous diseases and @PHENOTYPICFEATURE$.	false
+bd670072e097b7b61054fcd59fa2f71726346797	In 15 months we encountered eight patients with intracranial @PHENOTYPICFEATURE$ who developed erythema multiforme (EM) or erythema multiforme bullosa (@DISEASE$).	false
+d3b101b289ecec41fa59260fad83d3233c802b93	Through screening a panel of 28 serological factors, IL-6, IL-8, IL-15, @PHENOTYPICFEATURE$ necrosis factor-?, and granulysin were upregulated in patients with @DISEASE$/TEN and selected for the further validation in total 155 patients with Stevens-Johnson syndrome/TEN, including 77 from Taiwan and 78 from the Registry of Severe Cutaneous Adverse Reactions.	false
+10e031448d1d2ac448e506fa2d846e5a4e9b6fe1	Through screening a panel of 28 serological factors, IL-6, IL-8, IL-15, @PHENOTYPICFEATURE$ necrosis factor-?, and granulysin were upregulated in patients with Stevens-Johnson syndrome/TEN and selected for the further validation in total 155 patients with @DISEASE$/TEN, including 77 from Taiwan and 78 from the Registry of Severe Cutaneous Adverse Reactions.	false
+4fe1c8e0a9f9325cffd6fe5de8d375881ad4c32b	Subretinal hemorrhage in @DISEASE$ (AMD) usually causes acute @PHENOTYPICFEATURE$ and is associated with poor visual prognosis.	false
+07ec37d81a03d14b9fd28c28d7493aa288a681aa	Subretinal hemorrhage in @DISEASE$ (AMD) usually causes acute visual loss and is associated with @PHENOTYPICFEATURE$ prognosis.	false
+e5d619327c553a5c55b2d54986810bba9cc4bb5c	Subretinal hemorrhage in age related macular degeneration (@DISEASE$) usually causes acute visual loss and is associated with @PHENOTYPICFEATURE$ prognosis.	false
+056ed447569658a2c85f11ba1b04bfca02a7fb20	Subretinal hemorrhage in age related macular degeneration (@DISEASE$) usually causes acute @PHENOTYPICFEATURE$ and is associated with poor visual prognosis.	false
+2c6ba3857ed1ceab68dc7e61f8911a5668e335e4	Incident @PHENOTYPICFEATURE$ was caused mainly by untreated cataract, glaucoma, myopia, and @DISEASE$.	false
+f917db8b88cc2e77a21f3eea8a912f1d1eb3680e	Incident visual loss was caused mainly by untreated @PHENOTYPICFEATURE$, glaucoma, myopia, and @DISEASE$.	false
+dce3cbf2792810a25f56751cf7449e33da182768	Glaucoma and @DISEASE$ (AMD) are the two leading causes of @PHENOTYPICFEATURE$ in the United States.	false
+e8491aa85c467b70ce92d9ac2130d98b9e3bbf25	Glaucoma and age-related macular degeneration (@DISEASE$) are the two leading causes of @PHENOTYPICFEATURE$ in the United States.	false
+0f2b23a1289531f6b3a5a23462decbf4e584f9e6	@PHENOTYPICFEATURE$ and age-related macular degeneration (@DISEASE$) are the two leading causes of visual loss in the United States.	false
+e3d4ea364590d446f9787d6e1538942f21e9cd0f	@PHENOTYPICFEATURE$ and @DISEASE$ (AMD) are the two leading causes of visual loss in the United States.	false
+b096d3db4ddda50842783d052014faf1f597daa6	@DISEASE$ (AMD), cataract, glaucoma and diabetic retinopathy are common causes of @PHENOTYPICFEATURE$.	false
+d20d45c5bf1ccdc77a86a2fe87bee1a9927bf539	@DISEASE$ (AMD), @PHENOTYPICFEATURE$, glaucoma and diabetic retinopathy are common causes of visual loss.	false
+e111a34e6756676000d4f56bf1110ccce4e84ae3	Age-related macular degeneration (@DISEASE$), @PHENOTYPICFEATURE$, glaucoma and diabetic retinopathy are common causes of visual loss.	false
+b421fa3206898169d0b49752d0b79f2776677463	Age-related macular degeneration (@DISEASE$), cataract, glaucoma and diabetic retinopathy are common causes of @PHENOTYPICFEATURE$.	false
+258e4a2e6cc9d6053bf8c3d7a32e651fe8562b9c	Of 1825 participants with AIDS and no ocular @PHENOTYPICFEATURE$, 9.9% had intermediate-stage @DISEASE$.	false
+2a2ce61ff57cc507c3bd7d69d8ef60469421ac85	Discriminative power of reading tests to differentiate visual impairment caused by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+05e2fa49bd01b7a8bb801a6d6bdda5384289a5ca	Discriminative power of reading tests to differentiate @PHENOTYPICFEATURE$ caused by cataract and @DISEASE$.	false
+6a7cbc78e914210b7916d2807b377de42992fbff	In this case report, a patient's @PHENOTYPICFEATURE$ associated with both cataract and @DISEASE$ is described.	false
+ab86641871b7273e1a4b65c66cbe3db11ac1bac1	In this case report, a patient's visual loss associated with both @PHENOTYPICFEATURE$ and @DISEASE$ is described.	false
+ab985c06a33c0ceac416e317eae5cb8fbe744268	The major causes of @PHENOTYPICFEATURE$ for the other refractive error categories were @DISEASE$ and cataract.	false
+c95ead6d88386a92966f4d7aaaf9d1d34888d95a	The major causes of visual impairment for the other refractive error categories were @DISEASE$ and @PHENOTYPICFEATURE$.	false
+30fe9b223c3964223431730989c8b932dbdba8ed	TISSUES: Eyes from patients 36 to 93 years of age lacking clinical evidence of @PHENOTYPICFEATURE$, optic nerve abnormalities, severe myopia, @DISEASE$, or other macular or peripapillary chorioretinal pathologic condition.	false
+add5df0a267d0045f24e4ca35d82b05484eae85c	TISSUES: Eyes from patients 36 to 93 years of age lacking clinical evidence of glaucoma, @PHENOTYPICFEATURE$, severe myopia, @DISEASE$, or other macular or peripapillary chorioretinal pathologic condition.	false
+0b5b47d2aabec931f955356e4efc377bfb82a359	To assess the association of visual impairment, @DISEASE$ (ARMD), and @PHENOTYPICFEATURE$ with long-term mortality.	false
+683a4efffcbea0efc1ae835f6eb2e32b5aa0f5ff	To assess the association of visual impairment, age-related macular degeneration (@DISEASE$), and @PHENOTYPICFEATURE$ with long-term mortality.	false
+cb9b50126789f0f0fdc8b5c69b20fa4076d2a13c	To assess the association of @PHENOTYPICFEATURE$, @DISEASE$ (ARMD), and cataract with long-term mortality.	false
+2df940d6c9ef01c2ec5fa91e1e788bf3bcd1a578	To assess the association of @PHENOTYPICFEATURE$, age-related macular degeneration (@DISEASE$), and cataract with long-term mortality.	false
+527a75ba587c812f07deeba9f3bc5cc6d1de93f5	Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmoplegia (n = 7), Kearns-Sayre syndrome (n = 7), @DISEASE$ (n = 6), and @PHENOTYPICFEATURE$ epilepsy with ragged red fiber myopathy (n = 1).	false
+2b186c3543457b2e721ff1119a86fb1ae456551d	These patients represent four major etiologic groups, @DISEASE$, male pseudohermaphroditism, @PHENOTYPICFEATURE$, and true hermaphroditism.	false
+bba7c6a559db182e95a8aecfbe2e0132b7e2d918	@PHENOTYPICFEATURE$ in an adolescent with @DISEASE$, resolved by therapy doses adjustment.	false
+27773378a09254aee87724207942008edca606e2	Taking into account the presence of @DISEASE$ and a typical sonographic appearance of bilateral testicular masses, a diagnosis of @PHENOTYPICFEATURE$ was made; biopsy was deferred and hormonal treatment was modified.	false
+e0f1eb5752ba515562b84634b2333d5b3d6cfa52	@PHENOTYPICFEATURE$ in adolescents and adults with @DISEASE$.	false
+5ffc0b461b2af8c96b09c8b8e15d42a797c466cf	@PHENOTYPICFEATURE$ (TARTs) are benign testicular masses that are found in inadequately treated patients with @DISEASE$ (CAH).	false
+5a3282071a2296220c4a95c995a40c657bfbeeec	@PHENOTYPICFEATURE$ (TARTs) are benign testicular masses that are found in inadequately treated patients with congenital adrenal hyperplasia (@DISEASE$).	false
+c4988788998b827632dfc8df111343a68d41faad	The disorders were male pseudo hermaphrodite (MPH)-43, @PHENOTYPICFEATURE$ (MGD)-3, true hermaphrodite (TH)-7 and @DISEASE$ (CAH)-7.	false
+55aaf706a4ad6989352fb580d54fa5acc0246fc3	The disorders were male pseudo hermaphrodite (MPH)-43, @PHENOTYPICFEATURE$ (MGD)-3, true hermaphrodite (TH)-7 and congenital adrenal hyperplasia (@DISEASE$)-7.	false
+bd1ed75742189120db6b8727587b3182ef183ac9	Seven patients had @DISEASE$, four partial androgen insensitivity and one @PHENOTYPICFEATURE$.	false
+7df93360ca4e99b576fdb0d0338dd06856fb6e20	A girl with @DISEASE$ and recurrent @PHENOTYPICFEATURE$.	false
+9ca50346de93d6754ff5209e88fb8b58de548d4c	Rarely, patients with severe, salt-wasting @DISEASE$ have deletions of CYP21A2 that extend into TNXB, resulting in a "@PHENOTYPICFEATURE$" consisting of CAH and EDS.	false
+5d071dd2ef5df8fa488f2d8eab82851e9bd04bda	Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "@PHENOTYPICFEATURE$" consisting of @DISEASE$ and EDS.	false
+6546cf5cd6e2abcb9d3757aa5bff8475600e4c98	In those cases where the etiology was confirmed, the most common diagnosis was @DISEASE$, followed by androgen insensitivity syndrome and @PHENOTYPICFEATURE$.	false
+c58312b2308700f0e22a5387c0ae8ef9a0afaab0	The tight glycemic control required to attenuate chronic complications @DISEASE$ requires multiple daily injections of bolus insulin which cause @PHENOTYPICFEATURE$ edema and hypertension due to Na(+) retention.	false
+678767b6c14fff108537a3865cb18c996b143ba4	Serine biosynthesis defects result from deficiencies in PGDH, PSAT, or PSP and have a broad phenotypic spectrum ranging from @DISEASE$, a lethal multiple congenital anomaly disease at the severe end to a childhood disease with intellectual disability at the mild end, with infantile @PHENOTYPICFEATURE$, and severe neurological manifestations as an intermediate phenotype.	false
+9f3cea52c085987eba6e8fe3c6fdff573f791bc6	Moreover, the H(2)O(2)-induced ubiquitination occurs on transcriptionally engaged polymerases without the help of @DISEASE$ and B proteins and von Hippel-Lindau @PHENOTYPICFEATURE$ suppressor proteins, which are all required for the UV-induced ubiquitination.	false
+54e5d2e32d056c0d264394448b36450a3e79c013	Newly recognized signs for @DISEASE$ were gaze palsy and @PHENOTYPICFEATURE$.	false
+24c885b8679730912daa0176ade62318d3104325	A 61-year-old female patient who suffered from a huge primary @DISEASE$ in the central portion of the liver had the clinical presentations of fever, nausea, @PHENOTYPICFEATURE$, jaundice, and body weight loss.	false
+43a2325027a9ece1d33df86394b67411cd5b3a7a	The final pathological diagnosis of the @PHENOTYPICFEATURE$ was metastatic @DISEASE$.	false
+5e1a7453eed10d0d7aac91150075e260d38e3dab	He presented with @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, thrombocytopenia, recurrent infections and hypogammaglobulinemia.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d796392ff4207d00cf6a2be7bf17f80f49cbf13	A 55-year-old patient with a history of @DISEASE$ and biopsy proven hemochromatosis complained of hearing loss, @PHENOTYPICFEATURE$, and gait disturbance.	false
+115a26bacac134bf0fec1f83812223f6fa0a3d77	Liver failure with coagulopathy, @PHENOTYPICFEATURE$ and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and @DISEASE$.	false
+9f0fae333db035bb5dc61a2368793c2b079d1f35	Despite the ample @PHENOTYPICFEATURE$ heterogeneity for @DISEASE$ in the country, the findings provide a diagnostic algorithm to ease mutation assessment in new patients; the predominant c.3402delC displayed wide geographic distribution and two genetic origins.	false
+9d89f66dc3adf97ba6a04db2dae39cfe855299ca	[Occurrence of copper @PHENOTYPICFEATURE$ in the families of four individuals with newly diagnosed @DISEASE$].	false
+abdb6cae9567120ba64b652ba0dfe89634862d35	Based on the copper @PHENOTYPICFEATURE$ and clinical manifestation, we diagnosed @DISEASE$ (Ferenci score, 6 pts) and started treatment with d-penicillamine.	false
+61142a293683e91203c0dc05b6224b7b9d59385c	Patients with @DISEASE$ exhibited a 29% higher risk of AF after adjusting for age, gender, race, income, hypertension, diabetes, renal disease, @PHENOTYPICFEATURE$, obesity, coronary disease, and obstructive sleep apnea (HR 1.29, 95% CI 1.15 to 1.45, p?<0.0001).	false
+21e27bf4aadf27278cdbcf07d5eef646aa49a9b7	The causes include hypertriglyceridemia, @PHENOTYPICFEATURE$, diabetes mellitus, porphyria, and @DISEASE$.	false
+e40c598df9450cbed7c22a79593168942978e762	Here we report a case from Coimbatore Medical College hospital, who presented with @PHENOTYPICFEATURE$ and neuropsychiatric symptoms as the initial manifestation and found to have both SLE and @DISEASE$ on subsequent evaluation.	false
+711c3a068ef943ab25bd1f57b3b931204657fb77	Here we present two siblings born to nonconsanguineous parents who both presented with trigonocephaly, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f93fdba8c6d29c592dd2f26316a53792256361eb	Although most glaucoma patients are elderly, @DISEASE$ and glaucomas of childhood are also important causes of visual @PHENOTYPICFEATURE$.	false
+f3a1213b2f762ea242047113d54a13292a80ebce	We report a sibling pair, whose parents are distantly related, with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f3d4cab7227f9bf3109298af32f4d90fda012f4a	6p subtelomere deletion with @DISEASE$, @PHENOTYPICFEATURE$, and growth impairment.	false
+4e124151495ac730317ffce8145cc89eb35e4a92	A boy with @DISEASE$, @PHENOTYPICFEATURE$ and dysmorphic features is described.	false
+e610aa1cc00ce3c805706de32e0716c2356769fc	Association of an @PHENOTYPICFEATURE$ indistinguishable from Friedreich's ataxia and @DISEASE$ in a family: a new syndrome.	false
+5b347275c931aeea15258a926eb21508b59b676c	Association of an ataxia indistinguishable from Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$ in a family: a new syndrome.	false
+f7fd8c23cc449b301bcb188274adaed113c478b8	A poorly developed female infant with @DISEASE$, Turner phenotype, and @PHENOTYPICFEATURE$ is described.	false
+dd6a153bc1a6af29ed2d6544888896c56fe30e38	@DISEASE$, cataplexy and @PHENOTYPICFEATURE$ in a mother and son: a "new" syndrome.	false
+49a533d9f419eb7b583ff8ced1b8bbeca90c1e84	An inbred family is described in which three sibs have @DISEASE$ and two of them also have an ataxia indistinguishable from Friedreich's @PHENOTYPICFEATURE$.	false
+2c891ededf4c0730be8e26130cdead31d428a24d	An inbred family is described in which three sibs have @DISEASE$ and two of them also have an @PHENOTYPICFEATURE$ indistinguishable from Friedreich's ataxia.	false
+67d4b8741a2b1ad9e1a60a7a341619599967a547	@DISEASE$, deafness, @PHENOTYPICFEATURE$, and cardiac anomaly following attempted abortion.	false
+3859723078fb93a69f756a146af38bf46a47de08	We describe here a patient with 6p subtelomere deletion associated with @DISEASE$, @PHENOTYPICFEATURE$, and growth impairment.	false
+5a708c2abd357088d4291769c47bc27008a48f32	@DISEASE$ (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ appearance and varying degrees of mental retardation.	false
+2a5c14694f2fb51fb518750d3428bcfe0f459194	Johanson-Blizzard Syndrome (@DISEASE$) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ appearance and varying degrees of mental retardation.	false
+c134242581e2a0196f2fba72730ade6308eee613	A 10-year-old boy, affected by cleft lip and palate and the Ectrodactyly-Ectodermal Dysplasia-Clefting (@DISEASE$) syndrome, presented with @PHENOTYPICFEATURE$, microdontia, enamel hypoplasia and caries, as well as white macules and plaques on the buccal mucosa bilaterally.	false
+d721e13aede3bf8d89b82aba75b87d44c207b903	The rubber elongation factor in Hevea rubber (Hev b 1) is one of the most important latex allergen and is leading cause of latex @DISEASE$ in children with @PHENOTYPICFEATURE$.	false
+eb8af9e11956df5a9fb328007ae8d49076f0f408	We interviewed 93 consecutive children with @PHENOTYPICFEATURE$ who were scheduled for operation to document (a) the prevalence of latex sensitivity, (b) predictors of anaphylactic reaction, and (c) the risk of @DISEASE$ perioperatively.	false
+1032320db494af966f9bacb60a7552b92c2e14c4	Diagnosis included Hodgkin's disease (47), neuroblastoma (46), non-Hodgkin's lymphoma (37), teratoma (18), ganglioneuroma (14), cystic hygroma (11), Schwannoma (five), germ-cell tumors (three), lipoma (three), thymic tumor (three), malignant histiocytosis (two), neurofibroma (two), mesenchymal sarcoma (one), rhabdomyosarcoma (one), @DISEASE$ (one), @PHENOTYPICFEATURE$ (one), and hemangioma (one).	false
+1e38c29dfdfe3b2446bc19496bbb1162ee70088c	Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-H?nermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg "moth-eaten" @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+1bbf69b97592e55898be9d0492ebc9f5814ac9f0	These include desmosterolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hemidysplasia with ichthyosiform erythroderma and limb defects (@DISEASE$), hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$ (HEM dysplasia), and some cases of Antley-Bixler syndrome.	false
+b0f614078d5c9b8d38d84533860c96e81204efc5	Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, @DISEASE$, lathosterolosis, and hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$.	false
+edc6b6bc5d5b3655a9bad4c7d586fa628e2619ba	The enzymatic steps impaired in these inborn errors of metabolism include mevolonate kinase (mevalonic aciduria as well as hyperimmunoglobulinemia D and periodic fever syndrome), squalene synthase (Ss-/- mouse), 3beta-hydroxysteroid Delta14-reductase (hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$), 3beta-hydroxysteroid dehydrogenase (CHILD syndrome, bare patches mouse, and striated mouse), 3beta-hydroxysteroid Delta8,Delta7-isomerase (X-linked dominant chondrodysplasia punctata type 2, @DISEASE$, and tattered mouse), 3beta-hydroxysteroid Delta24-reductase (desmosterolosis) and 3beta-hydroxysteroid Delta7-reductase (RSH/Smith-Lemli-Opitz syndrome and Dhcr7-/- mouse).	false
+2f0834a79cf2f7c282cf168b78462a2f2bafe1e2	The enzymatic steps impaired in these inborn errors of metabolism include mevolonate kinase (mevalonic aciduria as well as hyperimmunoglobulinemia D and periodic fever syndrome), squalene synthase (Ss-/- mouse), 3beta-hydroxysteroid Delta14-reductase (hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$), 3beta-hydroxysteroid dehydrogenase (@DISEASE$, bare patches mouse, and striated mouse), 3beta-hydroxysteroid Delta8,Delta7-isomerase (X-linked dominant chondrodysplasia punctata type 2, CHILD syndrome, and tattered mouse), 3beta-hydroxysteroid Delta24-reductase (desmosterolosis) and 3beta-hydroxysteroid Delta7-reductase (RSH/Smith-Lemli-Opitz syndrome and Dhcr7-/- mouse).	false
+8f2c532a719247affe8e27858361cd4a3e97e251	The prevalence of autoimmune disease (rheumatoid arthritis, @DISEASE$, Graves' disease, @PHENOTYPICFEATURE$, celiac disease, systemic sclerosis, Sj?gren syndrome and multiple sclerosis) was 1.4% in older women (95% CI: 1.3%, 1.5%) with significant variation across regions of the United States.	false
+7f540219da886c8812c649e1064aec532c3d59c0	Low vitamin D levels are associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+4837a6abb5d4045efed9f000bf3def71d45bd682	@PHENOTYPICFEATURE$ is commonly observed in patients with @DISEASE$ (HT).	false
+a3c218cf823ec76f747ebe73c17a44823ad895ce	We report on a 26-year-old female affected by Noonan syndrome (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including @PHENOTYPICFEATURE$, celiac disease, and @DISEASE$.	false
+4fd906f5381fd34a47d4be96a2d76599a6b1811c	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, @DISEASE$, peripheral neuropathy, and spastic quadriplegia.	false
+96e05a7fcd384b476772ca3b786229f98a45a680	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, @DISEASE$, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+ff4763494b246bdc4e06d89947163bdd6fe65c3a	[Familial syndrome of @DISEASE$ with oculocutaneous @PHENOTYPICFEATURE$ and digital anomalies].	false
+b3fd13a49110c74deaeec8ad4e439a810eeb4327	This female, small for gestational age, had multiple dysmorphic features, including turricephaly, @DISEASE$, broad and flat nasal bridge, anteverted nares, small ears, @PHENOTYPICFEATURE$, bilateral transverse palmar creases, and fifth finger clinodactyly.	false
+41cd190bdd7faba9d39115d35712775237127c28	Common hallmarks of these syndromic forms are @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0580c9d4c3fd344a2fe009c00a1eca4766de1a15	We describe a 22-month-old Japanese girl with severe @DISEASE$ with a prominent nose and a receding chin, developmental delay, marked intrauterine and postnatal @PHENOTYPICFEATURE$ with limb shortening and brachydactyly, and distinctive radiological changes of the skeleton.	false
+29470e971aa2fa950481f30f47578b5e9314a916	We describe a 22-month-old Japanese girl with severe @DISEASE$ with a prominent nose and a receding chin, developmental delay, marked intrauterine and postnatal dwarfism with @PHENOTYPICFEATURE$ and brachydactyly, and distinctive radiological changes of the skeleton.	false
+5ba6d9d3228f1ced3c44945f412efbc83a8d79c8	Clinical manifestations include coarse facies, @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+d2f284386683a4403c970bc67867d66771c8e974	Physical examination revealed @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphism, bilateral sensorineural deafness and mild global developmental delay.	false
+72744d976895bcabc5c5004c9e7f772928fbb896	They all had mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and hypoplasia of the vermis.	false
+4923e53e9548575edb65add7b32e0d1320167dae	ATR deficit is known to cause Seckel syndrome, characterized by severe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5350c0e3ce42d268e331c1053b82e4e8f9c02402	Both patients presented with @DISEASE$, @PHENOTYPICFEATURE$ global developmental delay, progressive spasticity, epilepsy, and cerebral hypomyelination.	false
+6cc55b0b8668603008abebd7f85359942b67c51d	The classically described presentation is of insulin-dependent diabetes, followed by @PHENOTYPICFEATURE$, @DISEASE$, and sensory neural deafness.	false
+da660af4eeba5490110aa8a0391553f6bd0d1261	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?	false
+7a625eeacb21253f6891226062d7feffa714523e	Partial @DISEASE$ complicating nonketotic @PHENOTYPICFEATURE$ hyperosmolar coma.	false
+a62a0ca5b2836c608ec2e471c4f4091e951346da	Histopathology of papule suggested a diagnosis of non-Langerhans cell histiocytosis and systemic evaluation showed @DISEASE$ and @PHENOTYPICFEATURE$.	false
+92558f9f38d9a588c026dbde1925ddcbef3d907a	@PHENOTYPICFEATURE$ was present in all, sensorineural hearing loss in 4/7, @DISEASE$ in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects.	false
+380bb45a95a5ff80ded0e7793ac6e4e6df431223	The frequency of systemic findings was as follows: @PHENOTYPICFEATURE$ (100%), diabetes mellitus (92.3%), @DISEASE$ (38.5%), sensorineural hearing loss (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases.	false
+1e203a3267aba7c2d8fb8790cec8383579fa84af	Juvenile onset diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$ (Wolfram syndrome)--neurological findings and prognostic implications.	false
+2efeb14df958f7888f1dffffb5ce15d78bd1699a	WS1 is a rare disorder characterized by the development of insulin-dependent diabetes mellitus at an average age of 6 years, followed by @PHENOTYPICFEATURE$ (figure) at an average age of 11 and partial @DISEASE$ and deafness in adolescence.	false
+4457fa246981cfadee3790d6b4454a5358856550	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), @DISEASE$ (CDI) and deafness (D).	false
+eb32dc1d0ba116ae31bba8f2c794ef5039d0ab04	It is usually associated with @PHENOTYPICFEATURE$, neutropaenia and @DISEASE$ of bone metaphyses.	false
+8af459733988a6d97490f8c46cd9cc64f264ff36	What is the role of the IGFs in the etiology of several disease states associated with rapid growth in poultry, including tibial @DISEASE$, @PHENOTYPICFEATURE$, ascites, and spiking mortality syndrome?	false
+ed5007d3df201cd8d2540fbc92b7128c6ebaebe2	All rats receiving the 100 mg/kg/day dose of HO-IDPN (and the rat receiving 120 mg/kg/day) developed the @DISEASE$ syndrome and signs of @PHENOTYPICFEATURE$ within 4 days after the last dose.	false
+e2ab6077a51b2f30dcf4fb5276f43ea52164919b	ERP responses to beat omissions reveal an intact pre-attentive system for processing beat irregularities in cases of beat @PHENOTYPICFEATURE$, reflected in the @DISEASE$ component, and provide partial support for abnormalities in later cognitive stages of beat processing, reflected in an unreliable P3b component exhibited by Mathieu-but not Marjorie-compared to control participants.	false
+fc5ddd2364135bb7ca752ca956442ad2a941b556	Our aim was to explore whether a multi-feature paradigm (Optimum-1) for eliciting mismatch negativity (@DISEASE$) would objectively capture difficulties in perceiving small sound contrasts in children with @PHENOTYPICFEATURE$ (HI) listening through their hearing aids (HAs) and/or cochlear implants (CIs).	false
+db282f3e9c702e38183ce4aa2ab225da4af42b4d	A mismatch negativity (@DISEASE$) component of brain evoked potentials, which indexes preconscious sound discrimination, and brain responses to rare sine-wave tones were recorded in 12 healthy infants and 32 infants with @PHENOTYPICFEATURE$ at the ages of 0 and 6 months.	false
+622ea59e6eee67cbffe8eb3a38f3e16a535a928b	@DISEASE$ (OCD) is a joint disorder of the subchondral bone and articular cartilage whose association with @PHENOTYPICFEATURE$ in children is not clearly known.	false
+1ab8b3ecf247531e027566808a55c7a1eedf694d	Osteochondritis dissecans (@DISEASE$) is a joint disorder of the subchondral bone and articular cartilage whose association with @PHENOTYPICFEATURE$ in children is not clearly known.	false
+7e5d051599b8aaa0e63431763c12de35b40f8944	There are differences between @PHENOTYPICFEATURE$, Parkinson, and @DISEASE$ patients regarding fiber tract statistics.	false
+1162eb25681ca72aa4502021916119ca1d7cde1b	Trials and "proof of concept" studies of DBS are underway in pain, epilepsy, @PHENOTYPICFEATURE$, @DISEASE$, depression, and Gilles de la Tourette syndrome, as well as in eating disorders, addiction, cognitive decline, consciousness, and autonomic states.	false
+4dc6dc0da09fbaf14778a34de0b741170d9e8497	Cortico-striatal-thalamic-cortical pathways, physically distorted by @PHENOTYPICFEATURE$ in this case, have long been implicated in @DISEASE$ etiology.	false
+2c6d5478b352743808a89189dbc620f4bf7f9dcf	It is probably efficacious for chronic pain and @PHENOTYPICFEATURE$, possibly efficacious for depression, psychotic symptoms, @DISEASE$, mixed anxiety, drug abuse, and stress at work, and experimental for the remaining disorders.	false
+8b8e27d131e6a8564efd108424eadcf9dc9e8b7a	Moreover, slitrk variants are associated with several sensory and neuropsychiatric disorders, including myopia, @PHENOTYPICFEATURE$, obsessive-compulsive disorder (@DISEASE$), schizophrenia, and Tourette syndrome.	false
+2f4fab2cd5b7643b0a5a71825543a530c5689f99	@DISEASE$: an @PHENOTYPICFEATURE$ and co-morbid disease database.	false
+352464bb409d5ad4964ea5f53dae4266378815e1	Novel statistical analysis methods were used to identify four traits that co-segregate: cataracts, hepatic abnormalities, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c4e2b89ec1a6ecab201db5ca5f0628b39fcfdbac	We present the case of an 11 year-old boy with a previous history of obsessive-compulsive disorder (@DISEASE$), who experienced a dramatic and acute worsening of OCD symptoms in temporal association with obstructive @PHENOTYPICFEATURE$ secondary to a tectal low-grade glioma.	false
+b3bd5cf3bcf0581b5f005f7fab3870df37bfceaf	We present the case of an 11 year-old boy with a previous history of obsessive-compulsive disorder (OCD), who experienced a dramatic and acute worsening of @DISEASE$ symptoms in temporal association with obstructive @PHENOTYPICFEATURE$ secondary to a tectal low-grade glioma.	false
+3dd4573f5ab8c35743e50d57219957f9307810a0	Patients with GAD were characterized by a significantly higher intensity of phobic disorders, conversion disorders, cardiac @PHENOTYPICFEATURE$, and hypochondria, when compared to patients with @DISEASE$.	false
+a9b6a9c49490483de37037e8bdcb7b0c64326332	Individual 1, a 14-year-old boy, has mild ID as well as mild microcephaly, corrected @DISEASE$, hyperkinetic disorder, mild brain atrophy and minor @PHENOTYPICFEATURE$.	false
+4c900224ed00d2c2c5b8784b4f9c39bc813d8dc6	The ocular findings in patients with @DISEASE$ are heterogeneous and include blue sclerae, cataracts, uveitis, retinopathy, and @PHENOTYPICFEATURE$.	false
+e34e694802bb3a05a71a2b1c1ed50cb412325f87	The purpose of this study was to contribute to the improvement of stratification of post-myocardial infarction patients at increased risk of malignant @PHENOTYPICFEATURE$ (@DISEASE$).	false
+ad6064eafc327b1be1c11b2ceb10683848457000	@DISEASE$ is clinically characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+ca06f3ceac379984ccf6e975866dd4cb38d35406	@DISEASE$ is characterized by recurrent episodes of high @PHENOTYPICFEATURE$, abdominal distress, diffuse joint pain, and skin rashes.	false
+be0c4477ee237a6b5a931c8f295f4533ceb24342	Children with @DISEASE$ syndrome die at an early age, are cancer prone, and have progeroid features like @PHENOTYPICFEATURE$, short stature, and cataracts.	false
+b3915e04b7807d407f4e91beff7582e29059fb8d	@DISEASE$/MVKD is another autoinflammatory diseases characterized with @PHENOTYPICFEATURE$ attacks.	false
+b1d4b43d207961ad86bedb6cc01ea5cd4f83d10b	Mevalonate kinase deficiency (@DISEASE$) is a hereditary syndrome characterized by recurring episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+27b967e4084af7cea43e48d0d8f731a0606999fd	@DISEASE$ (MKD) is a hereditary syndrome characterized by recurring episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+5ee871fbb40cf7b6064b4033226312b9e7df4754	The autoinflammatory hyperimmunoglobulinaemia D and periodic fever syndrome (@DISEASE$) is characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+b62d9089644b37c4063edfd149c58c73552c3837	Seven @PHENOTYPICFEATURE$ episodes in three @DISEASE$ patients were monitored, with and without administration of etanercept or anakinra.	false
+5fdda6fa8b2c2181ebbd958264690dbebbd35871	Mevalonate kinase deficiency (@DISEASE$) is a hereditary autoinflammatory syndrome marked by recurrent attacks of @PHENOTYPICFEATURE$ and inflammation.	false
+283621edddf10ad6cbe2f4b051fe22d8e8c844d6	@DISEASE$ (MKD) is a hereditary autoinflammatory syndrome marked by recurrent attacks of @PHENOTYPICFEATURE$ and inflammation.	false
+b1df07ae4e9827ea39927805d23ccc6dc9c51fd8	@DISEASE$ (massive osteolysis) is a very rare @PHENOTYPICFEATURE$-like lesion characterized by progressive osteolysis.	false
+7f6d8c360d44a9a691f0e113dd6fa0398e125093	Congenital heart disease, @DISEASE$, neural tube defects, and @PHENOTYPICFEATURE$ were the commonest anomalies found.	false
+8820e671e0c037d551e5dd2d6cc97a063187071d	Pulmonary arterial hypertension is the principal cause of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e0bdcf2742969e7e6773b5c7f14e401a0a2acb4b	Pulmonary hypertension and right @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+eafd3ea553939b32ddeb5e886b7825c221bc62a3	Sik3(-/-) mice have a malnourished the phenotype (i.e., lipodystrophy, @PHENOTYPICFEATURE$, hypoglycemia, and @DISEASE$-insulin sensitivity) accompanied by cholestasis and cholelithiasis.	false
+48d234e55d61d839da23c0f02e2328d5239103c8	A young boy with @DISEASE$-immunoglobulin M (IgM) syndrome had recurrent severe infections, @PHENOTYPICFEATURE$, and chronic neutropenia for 2 years despite treatment with i.v.	false
+c9bc9e81a556220983f61d6ac63f77800a63e0c2	VEGF-A-transgenic mice showed an increased vascularization with @PHENOTYPICFEATURE$ due to @DISEASE$-vascular permeability and subcutaneous hemorrhage as side effects.	false
+21dd3c24d87a930d19eacd40d04470b3169a9bab	[Infantile acropustulosis associated with atopic dermatitis, recurrent @PHENOTYPICFEATURE$ and @DISEASE$-immunoglobulinemia E].	false
+0d7c2fa73c9e270f2a5311322dd457100e2fa7d7	Also the bioelectrical impedance vector analysis method was used to analyze the displacement of Z/H vector in order to establish the relation with @DISEASE$-hydration (@PHENOTYPICFEATURE$).	false
+293c546cc531ffc5b4b30ca8ce543a6f7934cbdd	This process is non-reversible, and chronic besnoitiosis is characterized by @DISEASE$-sclerodermia, @PHENOTYPICFEATURE$, alopecia and, in bulls, atrophy, sclerosis and focal necrosis that cause irreversible lesions in the testis.	false
+9a1551729d9bda772bbf99709969b57b722b255c	A 61-year-old man with massive proteinuria and @DISEASE$ gamma-globulinemia was admitted to hospital because of massive @PHENOTYPICFEATURE$ and pulmonary infection.	false
+f4db64a8ad2e85530aeb4f62a1c52a4bebef4d32	The most common and known side effects of laser hair removal include transient erythema, perifollicular @PHENOTYPICFEATURE$, pain, folliculitis, @DISEASE$-pigmentation, hypopigmentation, crusting, purpura, erosions and scarring.	false
+f7f4fd58c15dcc86a15d949a832f852444f0f81e	Dermal lesions such as @DISEASE$ pigmentation and @PHENOTYPICFEATURE$, predominantly over palms and soles are diagnostic of Chronic Arsenicosis.	false
+855233cd7ef74c0ca11608c7b3ca2f60ce536938	Its recognized features include @DISEASE$-pigmented skin lesions (cafe-au-lait spots), neurofibromas, iris hamartomas, @PHENOTYPICFEATURE$, central nervous system tumours, defects of the skull and facial bones, and vascular lesions.	false
+ed97a27895711805eb5ddfee57486505c31b84f4	The etiology of the cases presenting with bilateral simultaneous basal ganglion hemorrhage include migraine, lightning stroke, @PHENOTYPICFEATURE$ hyperosmolar coma, hypertension and @DISEASE$ coma.	false
+be401b6a0a07bb546487c7d577497f5a9a944064	A 22-year-old woman presented with @DISEASE$, acute right eye @PHENOTYPICFEATURE$ and complete ophthalmoplegia.	false
+e5217009e48dc5cab67897c18a8bdc06bf541f81	Euglycemic @DISEASE$ (eDKA) is however challenging to identify in the emergency department (ED) due to absence of marked @PHENOTYPICFEATURE$, often leading to delayed diagnosis and treatment.	false
+ec4e2f7d84c86c7bcb2378234228ff3d9a621029	Factitious hyperinsulinism was suspected in a patient with an 11-year history of insulin-dependent, @DISEASE$ who began to experience repetitive episodes of "spontaneous" @PHENOTYPICFEATURE$.	false
+45c0fdf843a0d1e2a800e43700b8a288d3b204cb	We propose the @DISEASE$ of bone dysplasia, midface hypoplasia, and @PHENOTYPICFEATURE$" which lists the 3 main manifestations of the condition.	false
+f6164e72daa368e6034d95f403a3b44532ca8305	In sheep, a heritable mutation that inactivates FGFR3 produces skeletal @PHENOTYPICFEATURE$ when homozygous, this condition is commonly referred to as spider @DISEASE$ (SLS).	false
+1bc40283e53b5edaa5415bdc441bb3aef5ec9031	This review demonstrated that although the HLA association is well established for some neurological disorders (e.g., HLA-DQB1*0602 with multiple sclerosis and @PHENOTYPICFEATURE$; HLA-B7 e HLA-A2 with Alzheimer's disease; HLA-DR3-DR8 with @DISEASE$-Eaton syndrome; and HLA class II Parkinson's disease and amyotrophic lateral sclerosis), these associations are not consistent and vary in different ethnic groups.	false
+24fbaf9920a5c6066a110f0a41740924cfef70e3	Twenty-three subjects with genetically confirmed Friedreich @PHENOTYPICFEATURE$ and 12 subjects with @DISEASE$ underwent psychophysical evaluation of basic auditory processing (intensity discrimination/temporal resolution) and binaural speech perception assessment using the Listening in Spatialized Noise test.	false
+346da225a5ef6955c5a6a40563a7ee9802b2f350	Disorders known to be caused by molecular and cytogenetic abnormalities of the proximal short arm of chromosome 17 include @DISEASE$ (CMT1A), hereditary neuropathy with liability to pressure palsies (HNPP), Smith-Magenis syndrome (SMS), and @PHENOTYPICFEATURE$ and congenital anomalies associated with partial duplication of 17p.	false
+9f5032c1186195003635ed73be8d9322dadc3a17	Its application in testing for genetic mutations causing diseases, such as familial breast cancer, @DISEASE$, Duchenne/Becker muscular dystrophy and familial colorectal cancer is described, as well as its use in identifying chromosomal changes in some individuals with @PHENOTYPICFEATURE$.	false
+f6fe8a5e2397a443ac2aadd3c6a42b695fb5dbe7	In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with @PHENOTYPICFEATURE$, short stature, dysmorphic features, and @DISEASE$ (CMT1A).	false
+335090b1ecdca61a7ff584b80ddadcd0ee55652d	The aims of this study were to investigate binaural auditory processing in individuals with axonal (Friedreich @PHENOTYPICFEATURE$) and demyelinating (@DISEASE$) auditory neuropathy and to evaluate the relationship between the degree of auditory deficit and overall clinical severity in patients with neuropathic disorders.	false
+b243449f72e4f5f8577132bf56758485c40493e1	@PHENOTYPICFEATURE$ and @DISEASE$ in two siblings.	false
+c5b0a5aac6229753f7e4cea73a451b9c202abb34	Development of CPPD crystal deposition disease in young people may be associated with metabolic diseases such as hemochromatosis, hyperparathyroidism, @PHENOTYPICFEATURE$, @DISEASE$, hypothyroidism, gout, acromegaly, and X-linked hypophosphatemic rickets.	false
+04d1e5adba72a2c5c8687a2be77aecd0185089a0	An 11-year-old girl with @DISEASE$ presented with mild @PHENOTYPICFEATURE$ (8.0 mg per deciliter), hypophosphatemia (2.7 mg per deciliter), hypercalciuria (569 mg per day), and hyperphosphaturia (tubular reabsorption of phosphate, 67 per cent).	false
+2e2b93f92bec82a1049f4f384d0fce9a95f7cfd0	@PHENOTYPICFEATURE$ and @DISEASE$ (WD) are two different entities.	false
+25c3c8ec9cc2f15d62d6bb3829b6ddb5f0f93bde	If young people develop CPPD crystal deposition disease, it may be associated with metabolic diseases such as hemochromatosis, hyperparathyroidism, hypophosphatasia, @PHENOTYPICFEATURE$, @DISEASE$, hypothyroidism, gout, acromegaly, and X-linked hypophosphatemic rickets.	false
+4ca9baa7aee8810cd10e5cff106b5989d8813fa2	This rare case illustrates the potential importance of audiometric assessment for patients with @DISEASE$ who complain of hearing loss, @PHENOTYPICFEATURE$ and intra-aural pressure.	false
+bebd99c9e698167583947e8b4cea6e3ba03892e4	Furthermore, neuroimaging provides us with fairly typical finding in Creutzfeld-Jakob's disease, alcoholic dementia, @DISEASE$, @PHENOTYPICFEATURE$, Parkinson's disease, progressive supranuclear ophthalmoplegia, Fahr's disease, and the olivopontocerebellar ataxias.	false
+c7fa235ab25d711e9b5560fb9fafc81e78a60ec1	Altered mitochondrial functions have indeed been documented in a variety of chronic liver diseases including alcohol-induced liver disease, nonalcoholic fatty liver disease, @PHENOTYPICFEATURE$, primary and secondary cholestasis, hemochromatosis, and @DISEASE$.	false
+210d550b3a6b32cc2fa32ed06c2874657a012403	But a minority of underlying diseases (angiokeratoma corporis diffusum, cerebrotendinous xanthomatosis, diabetes mellitus, galactosemia, @PHENOTYPICFEATURE$, Refsum's disease, @DISEASE$; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally.	false
+fa32895bc794ad99bc90f71f0f66803c5d174190	There is a need to discover new models more closely related to counterpart syndromes in man in the fields of hepatorenal syndrome, neonatal jaundice, @DISEASE$, cholelithiasis, @PHENOTYPICFEATURE$, biliary atresia, and cirrhosis, to mention only a few.	false
+22de45726bb82df26715f89578c38b5153af5acc	@DISEASE$ (XP), a UV-sensitivity syndrome characterized by @PHENOTYPICFEATURE$, premature aging, and increased skin cancer, is caused by defects in the nucleotide excision repair (NER) pathway.	false
+7a6cfa5eb6b44e8812f34548093d5a0f360f9bed	A 37-year-old, white woman with @DISEASE$ had reduced vision for many years because of primary and secondary corneal epithelial @PHENOTYPICFEATURE$ and stromal haze.	false
+c1abe9e132302309bbd4fd3d9a6faa5c9253d542	In addition, the first known large Scottish family affected by @DISEASE$ was reinvestigated, and a new nonsense mutation, p.Gln66X, was found in exon 3. Using CT, both affected patients from the French family who were analysed had marked @PHENOTYPICFEATURE$, as previously observed in the first Scottish family, suggesting that the presence of distinctive basal ganglia calcification is an essential parameter to recognise this syndromic disorder.	false
+775bb973e779ceefedb98b8cc3a67b05dc42f8e6	Familial alpha-lipoprotein deficiency (@DISEASE$) with @PHENOTYPICFEATURE$.	false
+261df6c288b45c858c8ed5c825c97f1d955594db	@DISEASE$ (Tangier disease) with @PHENOTYPICFEATURE$.	false
+9a6deafe37a08dd0cb713ada9e68a2b33195c96f	Unlike the clinical manifestations of @DISEASE$, our patient did not show skin lesion, abnormal tonsils, hepatosplenomegaly, peripheral @PHENOTYPICFEATURE$ or corneal deposits.	false
+f01e4277d35a872c3269441ceaf44af8a39edd30	@DISEASE$ is a rare inherited metabolic condition associated with @PHENOTYPICFEATURE$.	false
+abde3c0b493bdd302351edbfedb09a0d1765ae8c	It was concluded that @DISEASE$ as a specific disorder is probably benign and that the @PHENOTYPICFEATURE$ and dysmorphic features described in some affected persons are likely coincidental with the biochemical defect.	false
+5f39d56b64729748b0db9fb2a9724414a4288f54	In this case, it was concluded that the metabolic block leading to @DISEASE$ was responsible of a pathologic condition with @PHENOTYPICFEATURE$ and complex neurological signs.	false
+2842d4f0156443179165d66d03dca87e85296495	Prenatal diagnoses were: @DISEASE$ (HLHS) in 50 fetuses (43.1%), @PHENOTYPICFEATURE$ (CTM) in 43 (37.1%),	false
+6a98c3cabf3e4b695ff93e053d8876febbcd0081	In the @DISEASE$, severe restriction at the atrial level results in marked systemic @PHENOTYPICFEATURE$ after birth.	false
+4b61ac47dacd05815766a2a04f1c5e54ebaea2ef	We report the implantation of a Berlin Heart ventricular assist device (VAD) in a 4-year-old boy with @DISEASE$ previously palliated with Norwood and Glenn operations, who presented with progressive ventricular failure and @PHENOTYPICFEATURE$.	false
+c0b442bdf1ecb15cbbc1da3ae4e186a9ca83777e	Ophthalmologists should be aware of the association between @DISEASE$ and necrotizing scleritis/peripheral ulcerative @PHENOTYPICFEATURE$.	false
+3fcf70d3db7397111d2f37ddeec936ade7ec6d7f	To report a case of peripheral ulcerative @PHENOTYPICFEATURE$ and necrotizing scleritis precipitated by trauma in a patient with @DISEASE$ due to hepatitis C viral infection.	false
+dfc8b604f14e96c589331842c7efc7f5d6500b25	Peripheral ulcerative @PHENOTYPICFEATURE$ and necrotizing scleritis initiated by trauma in the setting of @DISEASE$.	false
+f9efce341b06c2b9fe18d4f35f0ed9f0022e0eaa	This is the second reported case of necrotizing scleritis and peripheral ulcerative @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+7177c71f1edd5f996a4bf87f0aa6553cd508a147	@DISEASE$ is a rare chromosomal disorder characterized by @PHENOTYPICFEATURE$ and multiple anomalies.	false
+a67fa7c802d6199bf89435d0fcdd22d7b07c1e7c	Correct identification of patients with @DISEASE$ is important for determining whether there is risk of long-term neurodevelopmental @PHENOTYPICFEATURE$, and genetic testing can determine parental carrier status to aid in family planning.	false
+9d87488401dc215934082ab5cae8b53457cb15ee	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, @PHENOTYPICFEATURE$, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	false
+e3a44df6027d339c610ef0bdfaa6fea1c3319937	@DISEASE$ is characterized by multiple congenital anomalies and developmental @PHENOTYPICFEATURE$.	false
+494022a46cccb68d447b8d057c043e092704ee4c	A case of @DISEASE$ (hereditary arthro-ophthalmo-dystrophy) with maxillo-@PHENOTYPICFEATURE$ and colon atresia is reported.	false
+6f9703d4bd778eb1ac088bd8251920ec46f1c9d9	The phenotypes of @DISEASE$ include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft palate and midline @PHENOTYPICFEATURE$.	false
+dba702c0e684e3205cfa59ef65141a8637e5c22a	Cephalometric analysis was not able to thoroughly prove the @PHENOTYPICFEATURE$ appearance in @DISEASE$.	false
+cf0a4cbdb0fb9b962c877734cfc4d943a40a2a1e	It is generally thought that WZS is a neonatal expression of the @DISEASE$, even though in the latter, myopia, retinal detachment and a progressive @PHENOTYPICFEATURE$ are characteristics that are not found in WZS.	false
+e05f250dc82a392761f90eb099a9ada6a3be6ba9	@DISEASE$ features marked @PHENOTYPICFEATURE$ that progressively worsens over time.	false
+abcca7f7eca1b6790af3aff1573667cc932ce38c	@DISEASE$ (HSAN III) features disturbed proprioception and a marked @PHENOTYPICFEATURE$.	false
+b172b051077f9a85a570435d818a22c6ba4ae110	These results suggest that poor proprioceptive acuity at the knee joint is a major contributor to the @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+3142e94f2ae500af23cdfe54d60a65490ffae952	NEW & NOTEWORTHY We describe the impaired manual motor performance in patients with @DISEASE$ (Riley-Day syndrome), who exhibit congenital insensitivity to pain, poor proprioception, and marked @PHENOTYPICFEATURE$.	false
+31dc528fc0122174e9f6cfecbe1b3a6908b43e50	Sight-threatening intraocular inflammation affecting the posterior segment of the eye may be predominantly located in the peripheral retina and vitreous (@DISEASE$) or postequatorially where it manifests as inflammation of the retina, retinal vessels and/or optic nerve with cellular infiltration of the choroid and retina and @PHENOTYPICFEATURE$ particularly at the macula.	false
+b2ec419fcd6e852b8c89cce31e210d7957cb871d	Measurements were done in 83 patients (23 males, 60 females) with various generalized bone diseases, including spinal @PHENOTYPICFEATURE$, primary hyperparathyroidism and @DISEASE$.	false
+4509d2963e6f55f2dcd985408746eed194bea3d9	To evaluate the response of bone cells and kidney to parathyroid hormone (PTH) and calcitonin (CT), the acute effects of these hormones given intravenously on plasma cyclic adenosine 3',5'-monophosphate (cAMP), nephrogenous cAMP and clearance ratio (cAMP:creatinine), have been studied in normal subjects and in patients with Paget's disease, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+9365d2978409846eac5194b39f8680d0e1a3d480	Extracutaneous manifestations include: fever, @PHENOTYPICFEATURE$, arthritis or arthralgia, @DISEASE$ and hematological abnormalities.	false
+60ebfc94ed4af5249882923cb4690013ece8ae16	There are at least two major forms, a limited oligosymptomatic ocular myositis (LOOM) with additional conjunctival injections only, and a severe exophthalmic ocular @DISEASE$ (SEOM) with additional @PHENOTYPICFEATURE$, chemosis, and proptosis.	false
+2fee89d5cb1f70b52de6cf078a2fd7c56b1cb023	There are at least two major forms, described by Benedikt GH Schoser, a limited oligosymptomatic ocular myositis (LOOM), which is associated with conjunctival injection only, and severe exophthalmic ocular @DISEASE$ (SEOM), which presents with additional @PHENOTYPICFEATURE$, chemosis, and proptosis.	false
+d3b8000bec5471b408737eb4143faf372590e98d	A 9-year-old child presented with moderate to high grade fever, mild @PHENOTYPICFEATURE$, and erythematous rash involving face, trunks and limbs associated with arthralgia, myalgia and @DISEASE$.	false
+6a6f076eb91754c46846d120be6cb482484d1029	This report describes an unusual case of pseudotumour of muscle caused by an eosinophilic @DISEASE$ associated with peripheral blood @PHENOTYPICFEATURE$, systemic illness and a pericardial effusion.	false
+a078bb016114f4de7f0da38488fbfbc193e2d371	Pembrolizumab and epacadostat induced fatal myocarditis and @DISEASE$ presenting as a case of @PHENOTYPICFEATURE$ and ophthalmoplegia.	false
+a8842066bcf85c0ca996a014067cdd59dc6cc274	@DISEASE$ associated with a Baerveldt @PHENOTYPICFEATURE$ implant.	false
+41a8b065cfbbce0a6dfb41757a92db22d889580a	Suspicion of HTLV-1 infection is merited in patients of West Indian origin between the ages of 30-65 years, who present with a sarcoid-like illness, gastrointestinal symptoms, @PHENOTYPICFEATURE$/lymphoma, myelopathy or @DISEASE$ like-illness.	false
+52935ac0443dea261c36208dbc5f2f48075cc7d6	In both DM and PM, proximal muscle weakness, muscle grasping and spontaneous @PHENOTYPICFEATURE$, nondestructive arthritis or arthralgia, elevated CK or aldolase level, presence of systemic inflammatory signs, myogenic changes on EMG, positive and anti Jo-1 antibody and pathologic findings compatible with inflammatory @DISEASE$ were distinguishing criteria items.	false
+c0c29e9df4e0d5879b10b605809af600f0efe02c	Velo-cardiofacial syndrome (VCFS) and @DISEASE$ (DGS) are developmental disorders characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	false
+9fa777d2583d79f36e00023e096e77922401487f	@DISEASE$ is a human developmental disorder resulting in hypoplasia of the thymus and parathyroids, and @PHENOTYPICFEATURE$.	false
+ed960501119ae0e955ebc24011ecbd8c9e111449	Microdeletion of 22q11 is responsible for @DISEASE$, velocardiofacial syndrome, congenital @PHENOTYPICFEATURE$, and related disorders.	false
+e693b5e46914ad8f671ace3186460269361b8776	More recently, 22q11 deletions have been documented in the @DISEASE$ and apparently isolated @PHENOTYPICFEATURE$.	false
+9b50c62e264a8b70d4eeb6c690c93408b699d506	Prenatal diagnosis of @PHENOTYPICFEATURE$ in association with ventriculomegaly and intrauterine growth restriction should include a detailed investigation of MDLS in addition to @DISEASE$.	false
+a851975d8b5ba00f2be057278047c8966e5dcdce	region is susceptible to rearrangements during meiosis leading to velo-cardio-facial/DiGeorge/@DISEASE$ (22q11DS) characterized by @PHENOTYPICFEATURE$ (CTDs) and other congenital anomalies.	false
+cba7023d49c10e8b77abab920ba55e16e9b2eac4	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ are congenital disorders characterized by craniofacial anomalies, @PHENOTYPICFEATURE$, immune deficiencies, and learning disabilities.	false
+ed960501119ae0e955ebc24011ecbd8c9e111449	Microdeletion of 22q11 is responsible for @DISEASE$, velocardiofacial syndrome, congenital @PHENOTYPICFEATURE$, and related disorders.	false
+d7cd1cf97237955c26e9ce052087cd7bc1461fd6	It includes sacral meningomyelocele and @PHENOTYPICFEATURE$, unlike @DISEASE$.	false
+52270b7935b063df92c35e98bb57bbb797b2d93d	IAA type B has been associated with @DISEASE$ (DGS), which includes @PHENOTYPICFEATURE$, T-cell immunodeficiency, hypocalcemia, and facial abnormalities.	false
+273ad59f421a4107ffce64a8739f690985590de8	Sixteen selected defects (anencephaly, @PHENOTYPICFEATURE$, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and @DISEASE$) were analyzed in detail.	false
+e0e85c72f6548ea4be811dcd86d322f77c61245a	By including defects detected among elective terminations before 20 weeks, the number of cases increased by five percent or greater for nine conditions: anencephaly (29%); @PHENOTYPICFEATURE$ without anencephaly (13%); encephalocele (21%); @DISEASE$ (19%); Edwards syndrome (11%); Down syndrome (6%); omphalocele (15%); gastroschisis (5%); and anophthalmia (7%).	false
+9d28528889e901040965a0f57b55047e820a4ca1	All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, neurofaciodigitorenal syndrome, @PHENOTYPICFEATURE$ type V, ring chromosome 13 syndrome, @DISEASE$ syndrome and sirenomelia.	false
+2a1f62cd45789e2b0fc6897fc0cee61e3ebf8bbe	We report on 3 patients with @PHENOTYPICFEATURE$ from the records of 34 necropsies of karyotyped @DISEASE$ syndrome, which were found among 403,710 births.	false
+ca652149a51030322d56f2879c0ae3e607f557e3	The results indicated that MDAY-D2 was indeed a newly induced @DISEASE$/2 @PHENOTYPICFEATURE$ and, furthermore, that MDAY was a homozygous A-strain tumor, probably a T-cell lymphoma.	false
+8738c7f48abe7a8635ce21b18af2b46962c795b4	The results indicated that MDAY-D2 was indeed a newly induced @DISEASE$/2 tumor and, furthermore, that MDAY was a homozygous A-strain @PHENOTYPICFEATURE$, probably a T-cell lymphoma.	false
+f2042dc0e6fdf5685b2d66ddf212fca0ca583df7	(C57BL/6 x A/J)F1 murine recipients of DBA/2 kidney allografts developed tolerance to DBA/2 tissues, which was measured by observation of growth of a @DISEASE$/2 @PHENOTYPICFEATURE$.	false
+84f1d442fbe494e52ea850bc95e950d218bdae6a	The sequential intraperitoneal injection of five different A strain @PHENOTYPICFEATURE$ into DBA/2 mice resulted in the de novo generation of new @DISEASE$/2 tumors.	false
+1e24bf2d91c9da1967d2f8dc5702631c4b84b8b8	The sequential intraperitoneal injection of five different A strain tumors into DBA/2 mice resulted in the de novo generation of new @DISEASE$/2 @PHENOTYPICFEATURE$.	false
+ea0ebf9d7b324de22e61a1e9c22943dfb5732548	Moreover, patients suffering from @DISEASE$, a bone marrow failure syndrome caused by mutant ribosomal proteins are also at higher risk for developing leukemia, or solid @PHENOTYPICFEATURE$.	false
+9c2abd38caeea8aa2a6dbd5a2a695c7159f518e5	FA, dyskeratosis congenita (DC), and @DISEASE$ (DBA) are inherited bone marrow failure syndromes (IBMFS) associated with high risks of bone marrow failure, leukemia, and solid @PHENOTYPICFEATURE$.	false
+8f399f7826e1853d34994ef706c38a1d9518806c	Then 7 or more days after grafting the first SL2 tumor, the concomitant immunity was nonspecific as the growth of a second SL2 @PHENOTYPICFEATURE$ graft and a L5178Y (@DISEASE$/2) tumor graft were inhibited.	false
+f0c656dec92a72141ec1ebda37d29c74a1c8f8ab	Then 7 or more days after grafting the first SL2 tumor, the concomitant immunity was nonspecific as the growth of a second SL2 tumor graft and a L5178Y (@DISEASE$/2) @PHENOTYPICFEATURE$ graft were inhibited.	false
+bb6c14ffee65b1c6c75c7e7f82513c08475a0a66	Then 7 or more days after grafting the first SL2 @PHENOTYPICFEATURE$, the concomitant immunity was nonspecific as the growth of a second SL2 tumor graft and a L5178Y (@DISEASE$/2) tumor graft were inhibited.	false
+450c377e8f50b5cebcbb87774387c7778532afa3	Tumor-induced changes in the pattern of erythropoiesis have been studied in A/RB mice bearing a transplantable ascites @PHENOTYPICFEATURE$, @DISEASE$ lymphoma.	false
+c6edaefec658935f0d4434870d4819b444a9c8b2	Incidence of @PHENOTYPICFEATURE$ in Diamond Blackfan anemia: a report from the @DISEASE$ Registry.	false
+25b30a6d555ba193a928980d3769af02d1ba2dc3	Incidence of @PHENOTYPICFEATURE$ in @DISEASE$: a report from the Diamond Blackfan Anemia Registry.	false
+3c50ade89507f44c1af1ccb911dbe0553ef788aa	Athymic (Swiss nude) and euthymic (@DISEASE$) @PHENOTYPICFEATURE$-bearing mice were injected intravenously with various vaccinia virus (Copenhagen strain) recombinants.	false
+ea099bcdc91543210e09009dfdaf93cc673af258	In addition, the first three syndromes have high risks of solid @PHENOTYPICFEATURE$: head and neck and anogenital squamous cell carcinoma in Fanconi anemia and dyskeratosis congenita, and osteogenic sarcoma in @DISEASE$.	false
+336af139472dbcda4cf87fe0af3b782f87e7de4e	Mutations in C8orf37 give rise to an early or adolescent-onset autosomal recessive @DISEASE$ or RP phenotype with early @PHENOTYPICFEATURE$.	false
+93d1f52633ba9e8fe8e574a5f9ae4ea673598713	Four human donor eyes with the following forms of central retinal dystrophy: cone-rod dystrophy (@DISEASE$), central areolar choroidal dystrophy, Bardet-Biedl syndrome, and cone dystrophy-@PHENOTYPICFEATURE$.	false
+1d3183c89ee40370c1f1dea163f591f8c9d0cc93	Surgery was associated with a reduction in bilateral visual @PHENOTYPICFEATURE$ among patients with ERM, RRD, and @DISEASE$, and 28.6% of patients with abnormal vision in the fellow eye achieved a higher bilateral visual functional level.	false
+c178e07a0e22c3027e093237a94c8ea100528c82	We conclude that @DISEASE$ cause @PHENOTYPICFEATURE$, including PC damage and progressive motor deficits.	false
+590514951c72d70bf371741c1be519f3400341b0	The three main syndromes in travelers to the Caribbean-Central America, Indian subcontinent-Southeast Asia, and other areas were diarrhea, @PHENOTYPICFEATURE$, and cutaneous syndrome (p < 0.05); in sub-Saharan Africa were fever, cutaneous syndrome, and diarrhea (p < 0.05); and in South America were cutaneous @DISEASE$, and fever (p < 0.05).	false
+1d80a054e5a9a226dc905833ac33f4ef2353db36	Events that occurred more frequently in zoster vaccine live recipients than in placebo recipients included injection site reactions, headache, respiratory infections, @PHENOTYPICFEATURE$, flu @DISEASE$, rhinitis, skin disorders, respiratory disorders, and asthenia.	false
+d273b53bbe2b07e1cf7d9b88d71eaef2f0b42096	Most of them had various basal diseases such as renal insufficiency, fracture, interstitial @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d01e0aae4108d63a25e13b3ff306b45b8cc3b868	Acute or @DISEASE$ may complicate branched-chain organic acidemias and must be considered in the assessment of patients with these disorders who have acute clinical deterioration and @PHENOTYPICFEATURE$, abdominal pain, encephalopathy or shock, or milder symptoms.	false
+d3d1f15c762d2ef252a556021716c0ccf8444140	A 44-year-old female with past medical history of @DISEASE$, back pain, and major depression was brought to the emergency room (ER) with altered mental status, jerky movements in extremities, generalized weakness, and @PHENOTYPICFEATURE$.	false
+6cc2d28cf34c551063c6186e4be01a7bd2dc3a6d	We describe a 37-year-old Caucasian woman with @DISEASE$ secondary to excess alcohol consumption, admitted with abdominal pain and @PHENOTYPICFEATURE$, fulfilling the criteria for diabetes ketoacidosis.	false
+cd68ba6d1387928cd76dea65fd9220b01972e265	@DISEASE$ is a rare childhood illness, most often presenting with nausea, @PHENOTYPICFEATURE$, and recurrent abdominal pain.	false
+b42deeb41635496065caaee84712247f30e38b71	@DISEASE$-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosomal recessive congenital disorder that presents with megalocornea, mental retardation, hypotonia, and @PHENOTYPICFEATURE$, among other signs.	false
+103b5d1e8838856942d6b10553fb1636e45a4782	@DISEASE$-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, @PHENOTYPICFEATURE$, and characteristic dysmorphic traits (MIM 249310).	false
+9bac6afee6b9505479c4dc43d6a64fa8e2f51dd8	@PHENOTYPICFEATURE$ was detected in two patients, sensorimotor polyneuropathy in four, carpal tunnel syndrome in seven, and @DISEASE$ and sensorimotor polyneuropathy as comorbid states in another two patients.	false
+a7916446b81f4d948ac6797d43cefe230f7148a9	Summary of Neuromuscular Presentations at the 57 Annual AAN 2005 meeting in Miami Florida on topics of Facioscapulohumeral muscular dystrophy (FSHD), Duchenne muscular dystrophy (DMD), Diabetic Neuropathy, Charco Marie Tooth disease (CMT), Comparison of injected steroids versus Surgery for @DISEASE$, Rituximab in Anti-MAG associated polyneuropathy, Cannabis based medicine (CBM) in the treatment of neuropathic pain, utility of skin biopsy with intraepidermal nerve fiber density (IENFD) in sensory complaints, comparing sympathetic skin responses (SSRs) and skin biopsy in diagnosing small fiber @PHENOTYPICFEATURE$, Chronic inflammatory demyelinating polyneuropathy (CIDP) clinical and electrophysiologic predictors, affect of limb warming in mild ulnar nerve conduction study (NCS) abnormalities, Tamoxifen affect in ALS, open label study of 3,4 DAP, Pyridostigmine and Ephedrine in fast channel syndrome, Mexilitine as an antimyotonia treatment in myotonic dystrophy (DM1), frontal lobe impairment evaluation in DM1 and DM2 patients and phenotype-genotype correlation in patients with dysferlinopathy.	false
+bf95b1608641deb952f3cbe6bffc5680975f6a97	had @DISEASE$ (CTS), 1 (0.5%) had trigeminal @PHENOTYPICFEATURE$, 1 (0.5%) had ulnar sensory neuropathy, and 1 (0.5%) had brachial plexus involvement.	false
+8d84c2f81aa5a43c552329b4845b78829fbe36f3	had @DISEASE$ (CTS), 1 (0.5%) had trigeminal sensory neuropathy, 1 (0.5%) had ulnar @PHENOTYPICFEATURE$, and 1 (0.5%) had brachial plexus involvement.	false
+693257b6135a1b87cb57dd8fa292f8e169540bb1	The participants (N=32) included @DISEASE$ (CTS) patients (n=16) with 20 @PHENOTYPICFEATURE$ hands, and an equal number of age-sex matched volunteers without CTS, as well as young volunteers without CTS (n=16 with 20 hands) used to analyze both the testing validity and reliability of the modified device.	false
+70210e23e5e132c2755a5a21d58445a0d9e331b4	Six carriers presented a skewed XCI pattern, 3 of whom (aged 38, 42 and 52?years) had increased levels of GAGs in the urine and showed typical MPS II clinical manifestations, such as @PHENOTYPICFEATURE$, liver abnormalities, @DISEASE$, recurrent ear infection, hypoacusia and more frequent severe odontological problems without coarse facial features.	false
+2cdcb794ea7cd2f812ece222917d537cecd76964	This review provides an overview of evidence for the role of TJ breakdown in diseases such as systemic inflammatory response syndrome (SIRS), @DISEASE$ diabetes, allergies, asthma, and @PHENOTYPICFEATURE$.	false
+4247db1ca80d998d4f4f55bab09df3eedc51e721	Fahr's disease is a rare neurodegenerative disorder of unknown cause characterized by @DISEASE$ that is associated with neuropsychiatric and @PHENOTYPICFEATURE$.	false
+f8ffc1aa159507017836bd2c554eb979bbcef443	@DISEASE$ (IBGC) is a neuropathological condition known to manifest as motor disturbance, @PHENOTYPICFEATURE$, and psychiatric symptoms.	false
+e40d2fc7e778849ac9926649c4806ae10ce96bb7	We report a 7-10/12-year-old white male with @DISEASE$ whose recurrent episodes of @PHENOTYPICFEATURE$ and dehydration were due to fasting hypoglycemia.	false
+cddf232be54230486bef1a90b731e1bc800c6428	Patients with @DISEASE$ or congenital myopathy are at high risk of complications including restrictive lung disease, orthopedic deformities, seizures, cardiomyopathy, and @PHENOTYPICFEATURE$.	false
+34eab00add8bd62bc6bc2e4c6dd780bae2a47cbb	There is not sensory or @PHENOTYPICFEATURE$, therefore it can be distinguished from other @DISEASE$, that usually have CNS abnormalities associated.	false
+ed4346dd64de2501831a4681680dffc1b46ebb4d	Walker-Warburg syndrome is an autosomal-recessive genetic disorder characterized by @DISEASE$ in association with complex developmental @PHENOTYPICFEATURE$ and the eyes.	false
+556474a952b070959b403b76f3efb2d81bc599a3	We have previously reported an autosomal recessive form of @DISEASE$, characterized by proximal girdle weakness, generalized muscle hypertrophy, @PHENOTYPICFEATURE$ of the spine, and contractures of the tendo Achilles, in a consanguineous family from the United Arab Emirates.	false
+c4e11669fd14f32fec78f0f4a0a294b6ef4973fa	Certain derivatives of CsA devoid of immunosuppressive activity may have some potential in treatments of Alzheimer diseases, @PHENOTYPICFEATURE$ C and HIV infections, amyotrophic lateral sclerosis, @DISEASE$, asthma and various parasitic infections.	false
+bb35727b75f9600eb8dd97ce1510bf1df9729d36	@PHENOTYPICFEATURE$ are features of @DISEASE$ that have been little discussed in the literature.	false
+1815caf52ba781c333e2a335b19ba0900db575a4	Identification of a new locus for a peculiar form of @DISEASE$ with early @PHENOTYPICFEATURE$ of the spine, on chromosome 1p35-36.	false
+2c206f21b9ccf0133de1afd2b9c2a81abf13b753	A case of a mediterranean boy with congenital muscular dystrophy (@DISEASE$) and central nervous system (CNS) involvement with mild @PHENOTYPICFEATURE$ and seizures is reported.	false
+73eb5fa93055ab1dd5901872e8b99f0c38c18e9a	A case of a mediterranean boy with @DISEASE$ (CMD) and central nervous system (CNS) involvement with mild @PHENOTYPICFEATURE$ and seizures is reported.	false
+03f96f113efe8153e7edfbbd05b48849106f943d	RSS is classified as a @DISEASE$, and is characterized by early @PHENOTYPICFEATURE$ of the spine, limb contractures, and restrictive respiratory dysfunction.	false
+6272875064f159dfaf79101da76127bc7bbb10d0	@DISEASE$, chronic perineal @PHENOTYPICFEATURE$, pudendal nerve block, sensory examination, neurologic examination, pain management, chronic pelvic pain syndrome.	false
+21dca7e1e9a0faa78aa5262ac48d65e951566e66	We herein report a case of atypical @DISEASE$ associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal @PHENOTYPICFEATURE$.	false
+8a5e82199a502949c3db49665c88406283caf375	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, @DISEASE$, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+d475dcd59a8f7feba140639405e0f3032fbc1ad3	Patients with @DISEASE$ were frequently affected by @PHENOTYPICFEATURE$.	false
+aa93fc12c62fcc545337ab8a8496c9875fa21918	The case of a morbidly obese 3.5-year-old boy, with @DISEASE$ (PWS), who experienced a life-threatening episode of @PHENOTYPICFEATURE$ soon after induction of general anesthesia with sevoflurane and intubation for orchidopexy is presented.	false
+39e499a349271225a1a6d887bbaa45dc54ac14a2	@DISEASE$ (PWS) is a genetic disorder (linked to chromosome 15q11-13) characterized by hypotonia and developmental delay, hyperphagia and obesity, @PHENOTYPICFEATURE$ and abnormal sleep, and behavioral problems.	false
+0e51c7471dc9d43674d47ab6e8f041c72221eda1	@DISEASE$: sorting out the relationships between obesity, @PHENOTYPICFEATURE$, and sleep apnea.	false
+02dbbdc4644603344e45670558a46e125e785f71	There were 274 patients with narcolepsy; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical @PHENOTYPICFEATURE$ cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, @DISEASE$, Niemann-Pick disease type C).	false
+1649d739db23c3e3f93ccaaae0288012eebe8c2e	There were 274 patients with narcolepsy; @PHENOTYPICFEATURE$; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, @DISEASE$, Niemann-Pick disease type C).	false
+ab04c208f365b4d97f53474406e18f5c1a2086d3	Of the 26 @DISEASE$ @PHENOTYPICFEATURE$ treated, follow-up imaging with IV contrast material was available for 23 tumors.	false
+9e6a01d8766c2efdb670fb2c6cab4a1e90324fb9	Of the 26 @DISEASE$ tumors treated, follow-up imaging with IV contrast material was available for 23 @PHENOTYPICFEATURE$.	false
+fa0341fec6982b498293d581a359c1eefa0543c4	Extraabdominal desmoid (@DISEASE$) @PHENOTYPICFEATURE$ pose a therapeutic challenge because they often recur locally and behave aggressively.	false
+69c08cf7318c62a3003e3d9d2415a403041b5640	Continued research evaluating cryoablation for the treatment of @DISEASE$ @PHENOTYPICFEATURE$ is needed.	false
+2fcf4075b3249cf4f61f3b29a268720ad3e523b5	Any enhancing soft tissue was considered viable @DISEASE$ @PHENOTYPICFEATURE$ and was measured in three planes.	false
+2dcccbdfbd91d6c657f228d3d213bd002188e599	@DISEASE$ @PHENOTYPICFEATURE$ are a distinct category between fibromatosis and fibrosarcoma.	false
+709bc2b2aaea2bcbc06698e426a77862609c3081	For the three patients referred for local control of @DISEASE$ @PHENOTYPICFEATURE$, complete tumor coverage with the ablation zones was achieved.	false
+643c1330b1e1c09c8bcef00ca368e9227ced9aa4	For the three patients referred for local control of @DISEASE$ tumors, complete @PHENOTYPICFEATURE$ coverage with the ablation zones was achieved.	false
+d989c2fcc38ca6a07f01babb74c01a38d9ba7098	Percutaneous cryoablation is a safe, effective, and repeatable treatment for achieving local control of @DISEASE$ @PHENOTYPICFEATURE$.	false
+2bdf7ed039eb8f6088789e2fa73da4c45591429e	Extracorporeal recirculating ascites dialysis (@DISEASE$) in combined hepatic and @PHENOTYPICFEATURE$.	false
+73993dfae5895d4452e33e4470276b235384e3e5	Radiology records were reviewed to follow the size of the @DISEASE$ @PHENOTYPICFEATURE$ before and after cryotherapy.	false
+05a5c75a83228a2d17bfb01235250129abdfa68d	No residual viable @DISEASE$ tumor was observed in nine of 23 @PHENOTYPICFEATURE$ (39.1%).	false
+7db86ae33945cec4ccc9374d5f32f192cb0d258d	No residual viable @DISEASE$ @PHENOTYPICFEATURE$ was observed in nine of 23 tumors (39.1%).	false
+1443da74cd9b0dbc784492b8055d77c0700e9d0c	Other situations detected, in order of frequency of detection, were: circuit disconnection, circuit leak, desaturation (severe shunt), oesophageal intubation, aspiration and/or regurgitation, @PHENOTYPICFEATURE$, endotracheal tube obstruction, severe hypotension, failure of oxygen delivery, hypoxic gas mixture, hypoventilation, anaphylaxis, air embolism, bronchospasm, @DISEASE$, and tension pneumothorax.(ABSTRACT	false
+709ba22aff7507563f749ff5a6d292b0a1c10759	Brain MRI findings showed diffuse high-signal intensity lesions, that involved gray and white matter in both frontal lobes and insula with @PHENOTYPICFEATURE$ changes; these findings were consistent with the acute stage of @DISEASE$ (CTLN).	false
+4bf8407364f9a321af75c5953c13157b37372b86	BSND protein, which is involved in chloride transport, is expressed in normal kidney and the inner ear and is known as an immunohistochemical marker for chromophobe renal cell carcinoma (RCC) and renal oncocytoma; however, other organs and @PHENOTYPICFEATURE$ types exhibiting @DISEASE$ expression have not yet been reported.	false
+605aabb6664ede7b34d22091aaa062c5c30cc752	Dominant mutations in EFTUD2 cause @DISEASE$, which does not involve @PHENOTYPICFEATURE$, coloboma, or retinal dystrophy; analysis of genes known to cause these ocular phenotypes identified several variants of unknown significance but no causal alleles in the affected patient.	false
+55d666de1dd60560c8da282df7926b3331eabbbd	Persistent @PHENOTYPICFEATURE$ was observed in two patients with oxalate osteopathy complicating @DISEASE$; four other cases have been reported in the literature.	false
+bd8ff59af94396029fef6f9145d8930f36f39530	@DISEASE$--a cause of @PHENOTYPICFEATURE$ and stiffness.	false
+477f0e142c0f8780d05d36f1ba8ebbf230bade01	These mutations accompanied a clinical phenotype that is distinguishable from recessive @DISEASE$ by progressive generalized muscle weakness, severe distal muscle atrophy, @PHENOTYPICFEATURE$, high serum creatine kinase levels, and conspicuous myopathic changes on muscle histopathology.	false
+ac2287249c17b4321ade40e140752e6cb9f727a3	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, @PHENOTYPICFEATURE$, and speech delay.	false
+475100e9d79fce8e9d535358cc99da3d06f77092	But, because diagnosis of @PHENOTYPICFEATURE$ is only based on neuroradiological and not on histological examinations, the possibility of a @DISEASE$ cannot be excluded with certainty.	false
+059265cdd43f103e1d6a554e922dc4c5f035edea	The presence of ganglion cells within an endocrine pituitary tumor has been named @PHENOTYPICFEATURE$, choristoma, @DISEASE$, or most recently pituitary adenoma-neuronal choristoma (PANCH).	false
+43368a03dceded108817bcca0bc1f54502a6c2ac	Among six TLE patients with AE who underwent surgery, histopathology revealed neoplasms (low grade astrocytoma and @DISEASE$) in two patients and focal cortical dysplasia in one patient with increased (11)C-Met uptake, but non-neoplastic lesions (focal cortical dysplasia, vacuolar degeneration, and @PHENOTYPICFEATURE$) in all three patients with no increased (11)C-Met uptake.	false
+6e4a6e629be35bbe882cc8228b59823e95d027d8	Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic @DISEASE$ (Lhermitte-Duclos disease), a rare @PHENOTYPICFEATURE$/overgrowth syndrome of cerebellar granule cells associated with mutations in the phosphatase and tensin homolog gene.	false
+0bdd02d75d0acdede392635e0a8d257e8d799272	The authors describe 2 cases of dysplasic @DISEASE$ of the cerebellum or Lhermitte-Duclos disease revealing Cowden disease or multiple @PHENOTYPICFEATURE$ neoplasia syndrome.	false
+f4eb7ba0f2b9b8a5e4fd421eaefeb0af8fd17b33	@DISEASE$: a new autosomal dominant syndrome with sagittal craniosynostosis and @PHENOTYPICFEATURE$ of the fingers and toes.	false
+565edfafe55b2fd147072d55d3fc3b1945f87be9	Locus homogeneity between @PHENOTYPICFEATURE$ type 1A and @DISEASE$?	false
+aeef9efc0de327c712cd928ae01478ebb5f6fd61	Paravaginal @DISEASE$: A rare @PHENOTYPICFEATURE$.	false
+4d3c3d3fd078863371536f88c954eb107387ac7a	The @PHENOTYPICFEATURE$ cells were derived from a @DISEASE$.	false
+acb2c7bc229d13b0131dce45920bf8e517cc21d7	Malignant @DISEASE$ are rare @PHENOTYPICFEATURE$ of the head and neck.	false
+50b47cd555d371739cdca5985a92226573087d0f	@DISEASE$: genetic analysis of @PHENOTYPICFEATURE$ derived cell lines.	false
+64769be0438fd1980f5081c30c3d6e1f16596374	@DISEASE$, Ewing tumour, primitive neuroectodermal tumour (PNET), Askin @PHENOTYPICFEATURE$ belong to these neoplasms.	false
+bdbc34b049dc8c5265df79a74efb0a1296bfc9f5	@DISEASE$, Ewing @PHENOTYPICFEATURE$, primitive neuroectodermal tumour (PNET), Askin tumour belong to these neoplasms.	false
+c5eef9f82d07d8ea51c4f87547983a0637064ccf	@DISEASE$ are highly malignant small cell @PHENOTYPICFEATURE$.	false
+7bb1f462c18656d213f6cb23a8dc6829e43a7cf2	Peripheral primitive neuroectodermal tumors are extremely rare @PHENOTYPICFEATURE$ in the spine; only 18 cases of extra-dural @DISEASE$ cervical region have been reported.	false
+fa10e50512f3e68521e2b13c9198c2438efc0c47	@DISEASE$ are extremely rare @PHENOTYPICFEATURE$ in the spine; only 18 cases of extra-dural peripheral primitive neuroectodermal tumor cervical region have been reported.	false
+2e13784af9c024882dd463e237d39631d3613917	The @PHENOTYPICFEATURE$ were not consistent with @DISEASE$.	false
+24791ebaeec28105b7d703fcdca735bb6969e229	@DISEASE$ of the kidney presenting with pulmonary @PHENOTYPICFEATURE$ embolism: A case report.	false
+32dcccac95834f02f95750fbb8e52a72ed1a3673	The family of Ewing tumors includes extraosseous Ewing's sarcoma and @DISEASE$ (synonym: malignant peripheral neuroectodermal tumors), the former @PHENOTYPICFEATURE$ without and the latter with neural differentiation.	false
+98597a8f9d3d7cee0481c29032dbdef2f7fe7032	The family of Ewing tumors includes extraosseous Ewing's sarcoma and peripheral primitive neuroectodermal tumors (synonym: malignant @DISEASE$), the former @PHENOTYPICFEATURE$ without and the latter with neural differentiation.	false
+42072236c6fba056a07fb09f816b2527b4045b00	The family of Ewing @PHENOTYPICFEATURE$ includes extraosseous Ewing's sarcoma and @DISEASE$ (synonym: malignant peripheral neuroectodermal tumors), the former tumors without and the latter with neural differentiation.	false
+2b4589d8c899596c76e626735e39f76aebbe3f10	The family of Ewing @PHENOTYPICFEATURE$ includes extraosseous Ewing's sarcoma and peripheral primitive neuroectodermal tumors (synonym: malignant @DISEASE$), the former tumors without and the latter with neural differentiation.	false
+17d6fc84c5acc8d3cb04e55b282cf3dd6b63c791	The @DISEASE$ is characterized by mental retardation, hypotonia, @PHENOTYPICFEATURE$ and abnormalities of the limbs, genitalia and kidneys.	false
+1b00aba587fd312f5a1ed0a99c40b51ca829f66b	A 2,000-g infant boy had many features of the @DISEASE$ (prenatal growth deficiency and developmental retardation, microcephaly with @PHENOTYPICFEATURE$, hypospadias, and feeding difficulties) as well as sclerocornea.	false
+fb3d7c35091849291caf5e4679ad83c57de0b99a	We report three individuals with profound developmental delay, brain abnormalities, 2-3 syndactyly of the toes, and @PHENOTYPICFEATURE$, resembling @DISEASE$, the most common cholesterol biogenesis defect.	false
+6e4524a36a65f3747e2c23c59475d5e495e62852	The @DISEASE$ (SLOS) is an autosomal recessive metabolic disorder characterized by variable congenital malformations, @PHENOTYPICFEATURE$, and mental retardation.	false
+bc8accf15f703713a2e88e4d219bce9024b6c186	We investigated the enzyme defect in late cholesterol biosynthesis in the @DISEASE$, a recessively inherited developmental disorder characterized by @PHENOTYPICFEATURE$, mental retardation, and multiple organ congenital anomalies.	false
+133f49a31fa1bf945e9ac7921065e7dd7699111d	This child had clinical features similar to @DISEASE$ like @PHENOTYPICFEATURE$ and cardiac and renal anomalies with failure to thrive.	false
+1a5ff82c1435b68bc384ad13f6836b70cd0e19f2	The @DISEASE$ (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by @PHENOTYPICFEATURE$, mental retardation and multiple congenital anomalies.	false
+7d8f1fa890e3861bb4873204228b547921280c92	We discuss the diagnosis of @DISEASE$ versus @PHENOTYPICFEATURE$.	false
+a7030311a1ae4a07fb7b7e94681a6a5641b451ff	The radiological features of the following conditions are described; the spondyloarthropathics, systemic lupus erythematosus (SLE), dermatomyositis, scleroderma, the vasculitides, Kawasaki disease, synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, osteitis (SAPHO), and @DISEASE$.	false
+e1ea113b84ffd31a4ed1dacd7285b215964a71bd	@DISEASE$ and @PHENOTYPICFEATURE$ of the eye: a report of a new association and review of the literature.	false
+ddf42c7b7e9a17f3bb44fc68c9ee1ad8a08f0f0f	The first, a boy, died neonatally of pulmonary hypertension with @DISEASE$ and also had tibial agenesis and @PHENOTYPICFEATURE$.	false
+1abae31d1ee6a382a71b5777d67c96db2ed71238	SUNCT syndrome or first division @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+c49706daf4cd2b0e459d3b1b37a12ff9718ee5ac	@PHENOTYPICFEATURE$ and opsoclonus as the initial manifestations of myoclonic encephalopathy associated with @DISEASE$.	false
+a57c17384d91ff073dc25e775a07099e841e9989	Cerebellar ataxia and opsoclonus as the initial manifestations of myoclonic @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+f3adf27b5d60871d05719fec087bdc0756f0855a	Myoclonic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+267938f99620f5c04bca288891d2a0eaa9b1bc54	Acute cerebellar @PHENOTYPICFEATURE$ (ACE)--ataxia often associated with opsoclonus, polymyoclonus, and irritability--may be associated with @DISEASE$ and should be suspected in a child who presents with ACE.	false
+cb615317068137c11704349e61e17a4420a24fe4	Acute cerebellar encephalopathy (ACE)--@PHENOTYPICFEATURE$ often associated with opsoclonus, polymyoclonus, and irritability--may be associated with @DISEASE$ and should be suspected in a child who presents with ACE.	false
+691ec2c01c52ed3a93e0f8a8dcf9ace9ec9934e7	The coincidence of @DISEASE$ and acute cerebellar @PHENOTYPICFEATURE$.	false
+ea48c3b67439677c7fe437401a9c05442973daeb	Opsoclonus, myoclonus, @PHENOTYPICFEATURE$ and occult neuroblastoma (@DISEASE$-encephalopathy).	false
+2d3714629b7a27eb78a1ada9a22cf07f1348eea2	Opsoclonus, myoclonus, ataxia and occult @DISEASE$ (neuroblastoma-@PHENOTYPICFEATURE$).	false
+b8d45ed0c76db80de2fc7b7560dd1d8af9f8e44b	Opsoclonus, myoclonus, @PHENOTYPICFEATURE$ and occult @DISEASE$ (neuroblastoma-encephalopathy).	false
+c4c92334d61ce2c94dea321b085d508033779a4b	Opsoclonus, myoclonus, ataxia and occult neuroblastoma (@DISEASE$-@PHENOTYPICFEATURE$).	false
+b0ca798f87915f98ee8cf79c2ca2fee3f5c285d7	@DISEASE$ presenting with myoclonic @PHENOTYPICFEATURE$.	false
+981ced469e2c0c355ede3169ae3306d81d77104e	Cerebellar @PHENOTYPICFEATURE$ and @DISEASE$.	false
+691ec2c01c52ed3a93e0f8a8dcf9ace9ec9934e7	The coincidence of @DISEASE$ and acute cerebellar @PHENOTYPICFEATURE$.	false
+01865507735debf15ef821fc9cb882f78dd77013	[Infantile myoclonic @PHENOTYPICFEATURE$ with opsoclonus and @DISEASE$.	false
+ef7a076232b92566e02f00c8cb0512a6528c0255	Acute cerebellar @PHENOTYPICFEATURE$ as a remote complication of @DISEASE$.	false
+6120f63cf5248615e4b57cb44381607e2c0e1e7e	Moreover, the tumors may exhibit characteristic features, such as rapid tumor growth, @PHENOTYPICFEATURE$, or oculomotor nerve palsy, and these findings may represent helpful signs for the diagnosis of primary sellar @DISEASE$.	false
+0cb6f52680524623342e640683887eeb05873b0d	This X-linked syndrome is characterized by pre- and postnatal overgrowth, visceral and @PHENOTYPICFEATURE$, and a high risk for the development of embryonal tumors, mostly Wilms tumor and @DISEASE$.	false
+1baaf35e0cd3604513eb3ac92d176472d511bf60	Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with @PHENOTYPICFEATURE$ @DISEASE$ masquerading as patients with a more benign form of the disease.	false
+dea1758353b6890a8e7a9ba7f69ee0bb5c1780db	Eight children have had subsequent delayed development with motor incoordination and @PHENOTYPICFEATURE$ (7 with @DISEASE$, 1 without).	false
+ae1a6089f0f4a60ca504b8da8481e35eb7c7588a	Certain patients with @DISEASE$ associated OMA may achieve average-range neurobehavioral function in spite of residual @PHENOTYPICFEATURE$, with suggestion of continued improvement over time.	false
+2c9b9b7f567e01ab8397f1826e09a074d9353040	MYCN gene amplification (MNA) is a hallmark of @PHENOTYPICFEATURE$ @DISEASE$.	false
+ea626c3f323f65c7da15530ecb70e2a1e0816ef8	We investigated the role of the idiogenic osmol taurine and aquaporin channels in an in vitro model, the SH-SY5Y @DISEASE$ cell line, by sequentially mimicking DKA-like @PHENOTYPICFEATURE$/hypertonicity and hypotonic fluid therapy.	false
+784476292d5695cc6134259b9de1b5b319edadda	@DISEASE$ accompanied by @PHENOTYPICFEATURE$.	false
+4d19cfbe30590094da25352d1ea6d94207669525	Although this disorder is associated with @DISEASE$ and other neural crest tumors, as well as with other @PHENOTYPICFEATURE$, it was also reported in healthy infants.	false
+7a0a044c4cb0500acfdf0d836ba36eec0128036a	The second group includes neoplastic diseases as acute leukemia, non-Hodgkin lymphoma, and Hodgkin's lymphoma with myelofibrosis, malignant histiocytosis and non-@PHENOTYPICFEATURE$, like the @DISEASE$ and the embryonal rhabdomyosarcoma.	false
+8b5a03f9aee2e32c983e097e8d664bf9f6fddc3f	Second, the list of cancer-associated rheumatic syndromes was extended by including additional entities such as benign edematous polysynovitis, sacroiliitis, adult-onset Still's disease, dermatomyositis sine myositis, systemic sclerosis, Sweet's syndrome, osteomalacia, skeletal @PHENOTYPICFEATURE$, antiphospholipid syndrome, and @DISEASE$.	false
+45c747e411c6f6d088f4d63aaf140034c25d58dc	Hematologic abnormalities described in Sjogren syndrome include anemia, mild leukopenia [3, 4], eosinophilia, elevated erythrocyte sedimentation rate, @PHENOTYPICFEATURE$, @DISEASE$, and a variety of autoantibodies [5].	false
+18623d3344b1269d486245d53a05a6a228545392	Trichothiodystrophy is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), @PHENOTYPICFEATURE$ (I), decreased fertility (D) and short stature (S), which accounts for the acronym PIBIDS or @DISEASE$, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+5993b10b2a74d8f5cb1476679860492c7b02087a	This mutation is associated with a clinical phenotype of @DISEASE$ in which patients develop numerous benign and malignant mutations, brain tumours, sarcomas and other solid @PHENOTYPICFEATURE$, in addition to melanoma and dysplastic naevi.	false
+def0ee54fb72f4d4d80792edf1985f1544256398	To our knowledge, this is the first report in literature describing the familial occurrence of both diseases and it might present an addition to the @PHENOTYPICFEATURE$ spectrum in the @DISEASE$.	false
+976e12cefecb5a89f14cb52caf8212723aecfba7	As a general conclusion based on our studies, it may be said that screening of families with the multiple endocrine neoplasia syndrome type 2, familial adenomatous polyposis, @DISEASE$, and hereditary nonpolyposis colorectal cancer leads to detection of these @PHENOTYPICFEATURE$ in an earlier stage, which in turn may permit curative treatment and improvement of the prognosis and life expectancy.	false
+8c00c872cbbafe7f4e157d871004a965a2b6e554	Each of these conditions is associated with an increased incidence of certain @PHENOTYPICFEATURE$: Wilms' tumor, adrenocortical carcinomas, pancreatoblastomas, and hepatoblastomas in Beckwith-Wiedemann syndrome; intraocular malignant melanoma, pancreatic carcinoma, and noncolorectal gastrointestinal cancers in @DISEASE$; and squamous cell carcinoma of the esophagus in hereditary tylosis.	false
+94c748da6154b5c0ea292bb024be7facfd071e43	Patients predisposed to developing ductal pancreatic carcinoma (PC) are at risk of familial pancreatic cancer syndrome (FPC), hereditary pancreatitis, and other hereditary @PHENOTYPICFEATURE$ predisposition syndromes such as Peutz-Jeghers syndrome and @DISEASE$.	false
+4bfa488cd332f47222d006332963c3496232241a	Molecular analysis of the @PHENOTYPICFEATURE$ showed somatic loss of the second allele, supporting a causal relation of the PanNET to the underlying @DISEASE$.	false
+140b37bbab09029e8e9b6ea3b2947682e7d3da75	@DISEASE$ were found in 1.7% (95% CI 1.2 to 2.3%), @PHENOTYPICFEATURE$ in 0.51% (95% CI 0.29 to 0.9%), and intracranial tumors in 0.47% (95% CI 0.26 to 0.85%) of the applicants.	false
+78c97f05eb9138a2ae71b9add080d4e60c6423ce	@DISEASE$ (DDS) is characterized by nephropathy, @PHENOTYPICFEATURE$, and predisposition to Wilms' tumor.	false
+f316dcd2cbc1f071f442e2820d0fbd0c02dd8f61	The @DISEASE$ is characterised by a typical nephropathy, @PHENOTYPICFEATURE$ and also predisposes to the development of Wilms' tumor.	false
+1311d4984075c0e7adc004914126264e8c949518	There is a wide variety of @PHENOTYPICFEATURE$ observed in patients with @DISEASE$ (DDS).	false
+461bf0b81d520a020f33366e8acdb4a399ad9fa0	@DISEASE$ (DDS) is characterized by nephropathy, @PHENOTYPICFEATURE$, and predisposition to Wilms tumor.	false
+6d9a52ed154711b9b91d383698d3191f023f4e4a	Two infants died of @PHENOTYPICFEATURE$ with @DISEASE$.	false
+1a2e461a73434810075210bbe1c1f899ffc75349	@DISEASE$ (DDS) is characterized by @PHENOTYPICFEATURE$, early onset nephropathy and high risk for developing Wilms' tumor (WT).	false
+93c692605ba7e6dc2ac7a481a97bac4f75a998ce	Furthermore, mutations in WT1 have been detected in patients with the @DISEASE$ (DDS), which is characterised by nephropathy, @PHENOTYPICFEATURE$, and Wilms's tumour.	false
+693a36c019d07cf7888c4f8e3a6bf8ad82e5b1c2	Furthermore, mutations in WT1 have been detected in patients with the @DISEASE$ (DDS), which is characterised by nephropathy, genital abnormalities, and Wilms's @PHENOTYPICFEATURE$.	false
+d2ee3a0492e22aa5352dbc6d49242a40e36fcf6e	Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+21505fac430125424eface79ce7dee908234525f	Three WTs developed @PHENOTYPICFEATURE$ due to @DISEASE$, but none due to tumor therapy.	false
+854915b194a13c17574b809529a66d5eb6a89a38	Three WTs developed renal failure due to @DISEASE$, but none due to @PHENOTYPICFEATURE$ therapy.	false
+992cd60b5f2e5d592dd8a5c3ed9a4f7db10dacbc	The authors report one case of @DISEASE$: association of Wilms' tumor, nephropathy and @PHENOTYPICFEATURE$.	false
+99e097796ff15f31ee38d01585774184dd52905b	In zebrafish, @PHENOTYPICFEATURE$ formation is closely associated with @DISEASE$ and body curvature.	false
+84cd9e12386c60c700be9c13adc577e593950486	Right ventricular @PHENOTYPICFEATURE$, which was diagnosed @DISEASE$ histologically, was successfully removed.	false
+00e9c49986e3293d6fb99f5b0d38812c98668df2	Rarely reported caprine @PHENOTYPICFEATURE$ included a @DISEASE$, 2 rhabdomyosarcomas, and 3 pheochromocytomas.	false
+a7b3fe0eeb9e752160102d394216b0e3d9da43aa	The histopathological examination of the excised @PHENOTYPICFEATURE$ identified a @DISEASE$.	false
+37020159019372dd24fae8d90af22a2e778ee09b	@DISEASE$ is a rare and frequently lethal @PHENOTYPICFEATURE$.	false
+850cdde0f1560cdf6469a73fbcf5735643ec8862	Total macroscopic resection of the @PHENOTYPICFEATURE$ was performed and diagnosis of @DISEASE$ was made.	false
+f8757041672c49c4f8984df13c2d80cddd982eaa	@DISEASE$ is a very rare @PHENOTYPICFEATURE$ in adults.	false
+2a8be09e9c933dfe90959711078ca978e3f75a57	@DISEASE$ is a rare intracranial @PHENOTYPICFEATURE$, affecting mainly very young children.	false
+f1f39aefa81a103ff0bf77a9b31b270dd90441d3	After surgery the @PHENOTYPICFEATURE$ turned out to be @DISEASE$.	false
+21cdd3e17cce7a44584c076994b4c62b023c908a	@DISEASE$ (CPC) is a rare @PHENOTYPICFEATURE$ occurring in childhood.	false
+2a8be09e9c933dfe90959711078ca978e3f75a57	@DISEASE$ is a rare intracranial @PHENOTYPICFEATURE$, affecting mainly very young children.	false
+663241a97bfd40b0f37320670504e656951803da	CT findings of @PHENOTYPICFEATURE$ in @DISEASE$ are discussed.	false
+cece8c150e95cba5a999ca7d93403386210655be	Most of @DISEASE$ @PHENOTYPICFEATURE$ were G1 (n?=?15; 68?%) and there were no G3.	false
+bc8177e7423768e4382b55047627ab60adb80757	Four previously reported cases of @DISEASE$ with postpartum @PHENOTYPICFEATURE$ are reviewed.	false
+27709840a1d094b176ded49cb61d0dd6a00a328c	Renal transplantation for terminal @PHENOTYPICFEATURE$ as a result of scleroderma (progressive systemic sclerosis [@DISEASE$]) seems justified if other organs have not been severely damaged by the disease.	false
+09271bf4a7dfbcf60af84f4f751327ebe9191814	A 79-year-old woman with progressive systemic sclerosis (@DISEASE$) presented with acute pulmonary edema, hypertension and @PHENOTYPICFEATURE$.	false
+75a0d4a8287e84e0afc1de35ac9940cfb5fe2feb	@PHENOTYPICFEATURE$ is a common cause of death in patients with progressive systemic sclerosis (@DISEASE$).	false
+32316c228dd93cb1719b1f6ac5d25cb6267f2bee	Pericardial synovial sarcomas (@DISEASE$) are very rare @PHENOTYPICFEATURE$, with dismal prognosis and limited data.	false
+7b6f6a151932c141a0d6ae8c7741b886c904fdd2	A patient with progressive systemic sclerosis (@DISEASE$) complicated by accelerated hypertension, postpartum @PHENOTYPICFEATURE$ and gangrene in all 4 extremities is presented.	false
+e80e7a1bc190f40f6ae42e04d8e94123e257a877	The clinical features of @DISEASE$ can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and @PHENOTYPICFEATURE$ in males.	false
+b0474b3a4cd54d5e7f3bf6aeae83322de68ffed2	A 37-year-old female, who had been suffering from progressive systemic sclerosis (@DISEASE$) with long-term @PHENOTYPICFEATURE$, was diagnosed as MPO-ANCA positive PSS in active stage.	false
+7ebd1d8b575886d7247d234f34caf2fcb66d4378	We report a patient with @DISEASE$ who died with @PHENOTYPICFEATURE$ due to necrotising arteritis and segmental crescentic glomerulonephritis more typical of polyarteritis nodosa.	false
+e60a1b4d22520541e35ca6c8b2da7a1979341770	There were, moreover, individual cases caused by mononucleosis, BCG reaction, @PHENOTYPICFEATURE$, celiac disease, and @DISEASE$.	false
+f1e5dacc7c8b1ca25fc94b8375269f8e4a7bfe85	Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described @DISEASE$ syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), @PHENOTYPICFEATURE$, viral warts, and a spectrum of aggressive infections seen across all age groups.	false
+639f494e7b49d09193ba5ff5c0dc383601036a6e	The present study aimed to investigate medical decision-making capacity by use of a Swedish linguistic instrument for medical decision-making (@DISEASE$) in hypothetical clinical trials in patients with Alzheimer's disease (AD) and mild @PHENOTYPICFEATURE$ (MCI).	false
+342bfc236c59b3b021c76d2e31cc85d94e7c9191	Both sexes of Lutzomyia (Psychodopygus) killicki sp.n., L. (Trichophoryomyia) bettinii sp.n., L. (Nyssomyia) olmeca reducta subsp.n. and and the females of L. bernalei Osorno et al., Brumptomyia pintoi @PHENOTYPICFEATURE$ @DISEASE$ and L. begonae (Ortiz & Torres) are described and illustrated.	false
+ba444b3e99f685ca91904b2bbeb3cdc63a4a114b	The clinical phenotypes of the genomic imprinting-associated paternal UPD 6 (transient neonatal diabetes mellitus), maternal UPD 7 (Silver-Russell syndrome), paternal UPD 11p (Beckwith-Wiedemann syndrome), maternal UPD 14 (precocious puberty, @PHENOTYPICFEATURE$ and highly variable developmental delay), paternal UPD 14 (polyhydramnios and a bell-shaped thorax), maternal UPD 15 (Prader-Willi syndrome), paternal UPD 15 (@DISEASE$), maternal UPD 16 and UPD 20, as well as the diagnostic options, are summarized.	false
+6d1e06e5fad0b9756645d305266086ecfea31686	@DISEASE$ is a structural variant of capillary or cavernous hemangioma in which reactive epidermal acanthosis, papillomatosis, and @PHENOTYPICFEATURE$ are secondary developments.	false
+127f0d88a981478e41904d13eaa8a8e834660fd0	@PHENOTYPICFEATURE$ is common in @DISEASE$, representing a significant cause of disability.	false
+85af0ac8087bdfe25ad45cf1b156cd42f149049a	@PHENOTYPICFEATURE$ is frequent in patients with @DISEASE$ (MS).	false
+c90d7620be2c1356779a5176a0fbd42d8a61c075	[Deafness and @PHENOTYPICFEATURE$ in flare-ups in 10 cases of @DISEASE$].	false
+1b285b873cb8a667f033a3f4f76528b13817514a	[@PHENOTYPICFEATURE$ and tinnitus in flare-ups in 10 cases of @DISEASE$].	false
+5efbc39e2aa6c051f3ed2790b876942d9d477d70	We have studied 2 patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a64ffa4e03476cdcfa82980bb41c43b8ef5a6a49	@PHENOTYPICFEATURE$ is associated with fatigue in @DISEASE$.	false
+9d34ac2368428da5b7bde2e8617af477f6df74ba	Several symptoms and signs are characteristic of @DISEASE$ (MS) such as Lhermitte's sign, Uhthoff's phenomenon and painful @PHENOTYPICFEATURE$.	false
+8bb1a9355fd14808ed386d6b7b3dbb041181ffbe	@DISEASE$ (MS) is a common central nervous system @PHENOTYPICFEATURE$.	false
+f1d1c94fd115e6888303389f37ac3adf9a7f43b7	@PHENOTYPICFEATURE$ is common in @DISEASE$ (MS) patients.	false
+5dd1e7c05582dca0be9ccf112a145125b183c951	@PHENOTYPICFEATURE$ Characteristics and Vowel Impairment in Relation to Neurological Status in Patients with @DISEASE$.	false
+43666e49594a784bff07c08034e17fdc4ab1e77a	@PHENOTYPICFEATURE$, immune regulation, and @DISEASE$.	false
+c3e7f834226e18a0f9befa48f34659670d5fc0f2	@DISEASE$ and @PHENOTYPICFEATURE$ with lactic acidosis.	false
+5ac7212c5ec0f059224241f24cbd4666f2f4e8be	Late complications after hospital discharge occurred in 5 patients and included pseudocysts, transient @PHENOTYPICFEATURE$, @DISEASE$ insufficiency.	false
+3419b827fe3d3c73eaf753b60b6cc3f825cd5848	Symptoms of @DISEASE$ most often described were fever and gastrointestinal symptoms (@PHENOTYPICFEATURE$, vomiting, or diarrhoea), and coughing.	false
+cad4c588d2af401c6f6356e4f58dab5b245a1e35	Symptoms of @DISEASE$ most often described were fever and gastrointestinal symptoms (abdominal pain, @PHENOTYPICFEATURE$, or diarrhoea), and coughing.	false
+21bd49af4c757c4a333cd6bea10e93d6cac2b88a	The sociodemographic and clinical characteristics, medical treatments, and Modified Hoehn and Yahr (mH&Y) scores of @DISEASE$ patients without @PHENOTYPICFEATURE$ were recorded.	false
+aee208203eb1bf20fc4a91eb84debb423705110d	Genetic diagnosis in families with inherited platelet disorders (@DISEASE$) is not performed widely because of the @PHENOTYPICFEATURE$ of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes.	false
+a27db30e3c652142c60c71a0315cec5cb97a1316	However, chronic exposure to excessive Mn has been known to lead to neuronal loss and manganism, a disease with debilitating motor and @PHENOTYPICFEATURE$, whose clinical syndrome resembling idiopathic Parkinson's disease (@DISEASE$).	false
+9e7a7ff9928321b20856db65238f5b7465b92265	Invasive pneumococcal disease (@DISEASE$) associated with Streptococcus @PHENOTYPICFEATURE$ is a major public health problem worldwide for all age groups, including in Lebanon.	false
+de12cde9fe00090d5521608c3a498caf023e8881	A postmortem series of 330 elderly patients clinically diagnosed as parkinsonism with (37.6%) and without dementia showed that IPD, Braak stages 3-5 were rarely associated with @PHENOTYPICFEATURE$, which was frequently seen in @DISEASE$ with associated Alzheimer pathology (35.5%),	false
+37f51e21901a499e9491a1229b54b442577b3d83	Idiopathic Parkinson's disease (@DISEASE$) is characterised by a triad of motor symptoms, namely bradykinesia, rigidity and resting tremor, although @PHENOTYPICFEATURE$ is a common feature of the disease and has been accepted as one of the strong predictors of quality of life in such patients.	false
+9bf2cc0937030ae2b3cf8f4988773a9222d61b5d	We describe a 5-month-old female who presented with clinical features of @DISEASE$, including high-pitched cry, microcephaly, @PHENOTYPICFEATURE$, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay.	false
+dd2523d1b3046f0165c3a9b58798b5f050b2fc9e	Syndromic RCDs associated with @PHENOTYPICFEATURE$ include MELAS, KSS, @DISEASE$, and many others.	false
+38e4c2741907e6b560a530460fdbfd9e189d933f	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), @DISEASE$, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+98c219faa5e7fc47e5334cdffff4f0404283493e	Myocardial @PHENOTYPICFEATURE$ in Takotsubo syndrome mimicking @DISEASE$ hypertrophic cardiomyopathy: An insight into diagnosis by cardiovascular magnetic resonance.	false
+eeca484d63c38a079f3e59b1137bcadfb6f16ad5	We describe a unique SLE patient who was diagnosed with recurrent @DISEASE$ presented with axillary venous thrombosis and subsequent superficial @PHENOTYPICFEATURE$ and compartment syndrome.	false
+9acfd1864490c8cfc84afa1cfff90c5be733eec7	Characteristic perivascular/peribronchial @PHENOTYPICFEATURE$, atelectasis, @DISEASE$ emphysema, and neutrophil and macrophage infiltration developed after 1 mo of marijuana smoking; lymphocyte accumulation after 2 mo; macrophage-like giant cells, irregular or destroyed bronchial mucosa, goblet cell hyperplasia after 3 mo; and severe atelectasis, emphysema, obstructed or damaged bronchioles, and endothelial proliferation at 4 mo.	false
+7132daabea17e06fb412688a0ecd618321b04fd9	Acute peristome @PHENOTYPICFEATURE$ disease (@DISEASE$) is a new disease that broke out in cultured sea cucumber along the Shangdong and Liaoning province coasts in China, PR, and has caused a great deal of death in Apostichopus japonicus (Selenka) since 2004.	false
+4edb6f784f0d2ba82d8e667aaeda9f00345b6f42	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, cataract, bird-like face, flat feet, @PHENOTYPICFEATURE$ on the soles and diabetes mellitus, were absent.	false
+0254863954554f29836c35bc9793574b27920666	A follow-up cardiovascular magnetic resonance study was performed 5 months later which showed that @PHENOTYPICFEATURE$, wall thickening and the appearance of @DISEASE$ hypertrophic cardiomyopathy all resolved, confirming Takotsubo syndrome as the cause of the initial appearance.	false
+e7fafc6863761bdbb1ffbaaf2c6290d9c9afc816	Dilutions of Apis mellifica (obtained from the whole bee) and @DISEASE$ virus (obtained from bee venom) are used classically in homeopathy for inflammatory symptoms with @PHENOTYPICFEATURE$, erythema and pruritus (Lewis triad).	false
+17dbcd180fa5e2b778d002646d0f9cbbdd31d9da	This report describes the onset of systemic capillary leak (SCL)-like syndrome in a 30-year-old woman with antiphospholipids syndrome (@DISEASE$) during puerperium.Twelve hours after a cesarean section, she presented a sudden fever and abdominal pains followed by dyspnea, severe edema of the limbs and pelvis.Computer tomography shows congestion of interstitial pulmonary parenchyma, pericardial and pleural effusion, @PHENOTYPICFEATURE$ of intestinal wall and of perivisceral adipose tissue, and periportal lymphedema.	false
+a8af53826f5630e952cd8f4eb9af88e9707b54ad	This report describes the onset of systemic capillary leak (SCL)-like syndrome in a 30-year-old woman with antiphospholipids syndrome (@DISEASE$) during puerperium.Twelve hours after a cesarean section, she presented a sudden fever and abdominal pains followed by dyspnea, severe @PHENOTYPICFEATURE$ of the limbs and pelvis.Computer tomography shows congestion of interstitial pulmonary parenchyma, pericardial and pleural effusion, edema of intestinal wall and of perivisceral adipose tissue, and periportal lymphedema.	false
+8e068810467d820487b272f9478c85c7f162d1f0	In the present study, @DISEASE$ (SPG20) promoter-methylated DNA, as a potential diagnostic biomarker, was investigated in plasma and @PHENOTYPICFEATURE$ tissue samples from patients with CRC.	false
+57fa25e9169044aeb726cfb94e36e9a8ee2adc43	Concentration gradients of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed in 762 successive CSF fractions (2 ml lumbar CSF) from 15 patients with the adult @PHENOTYPICFEATURE$ syndrome (@DISEASE$) and 11 patients with hydrocephalus of other causes (mixed group).	false
+3e275b20dc84cb5201884ee567e21c0d1de97f6a	Concentration gradients of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed in 762 successive CSF fractions (2 ml lumbar CSF) from 15 patients with the adult hydrocephalus syndrome (@DISEASE$) and 11 patients with @PHENOTYPICFEATURE$ of other causes (mixed group).	false
+782623c40a8ca007fb4a2066da279fd889a3ea56	Monoamine metabolites, cholinesterases and lactic acid in lumbar cerebrospinal fluid (CSF) were investigated on patients with the adult @PHENOTYPICFEATURE$ syndrome (idiopathic normal pressure syndrome; @DISEASE$, n = 15), Alzheimer's disease (AD, n = 14), multi-infarct dementia (MID, n = 13) and controls (n = 21).	false
+d3acd73856ec3446dd6b04be6aa16fde8732efac	Many studies have demonstrated gaps in adherence to American College of Cardiology (ACC)/American Heart Association (@DISEASE$) guidelines among patients with acute decompensated @PHENOTYPICFEATURE$ (ADHF).	false
+9e8ddc910d100a4c84e48fd13e90788b9e9d6709	A cross-sectional regression model based only on Twitter language predicted @DISEASE$ mortality significantly better than did a model that combined 10 common demographic, socioeconomic, and health risk factors, including smoking, diabetes, hypertension, and @PHENOTYPICFEATURE$.	false
+71773609aed6e84c5ec54e8fb9b087b12330d701	Alternative high school (@DISEASE$) students have low levels of physical activity (PA) and high rates of overweight/@PHENOTYPICFEATURE$.	false
+2b07fb5e7484011ff099ec6b90cb1218b0031c57	Body mass index (BMI) and the apnea/hypopnea index (@DISEASE$) were determined for categorization of @PHENOTYPICFEATURE$ and sleep apnea status.	false
+10e04f99d5295d1bb4f1d33eaafb978e472c1a35	We studied 533 consecutive OSA patients, mean age 55.6 +/- 10.3 years (range 24-81), with @PHENOTYPICFEATURE$ (BMI 34.4 +/- 6.6 kg/m(2)) and severe OSA (@DISEASE$/RDI 37.8 +/- 21.8).	false
+8b6ba24c3b2dd0643139efb4897fed9a4893f204	Current heart failure therapeutic guidelines are based on a new classification of the progression of the syndrome of @PHENOTYPICFEATURE$ (CHF) that was proposed by ad hoc committees of the American College of Cardiology (ACC) and the American Heart Association (@DISEASE$).	false
+76d6175beb620d8e79e25abba0e3779c4ceeee18	Out of the 1000 patients with @PHENOTYPICFEATURE$ enrolled in the CCRC, 917 (91.7%) had CHD and the rest had @DISEASE$.	false
+7361b42de21cf80d2594855c955e8f7971824733	Plasma log MRP8/14 levels showed apnoea/hypopnoea index (@DISEASE$) dose-dependent increases regardless of @PHENOTYPICFEATURE$.	false
+69b33e94c94272b6f10a0175adb639adddb1b30b	The present study suggests that intranuclear viral-like microcylindrical inclusions of osteoclasts are not a specific feature of Paget's disease, and are found in other disorders of osteoclast function, including pycnodysostosis, osteopetrosis, giant cell @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3c40b3abb1e0344b47cf0ce660280a4f38348628	In this article, we analyze primary and secondary osteoporosis, rickets, osteomalacia (nutritional and hereditary vitamin D-dependent, hypophosphatemic and that due to renal tubular abnormalities), renal osteodystrophy, sclerosing bony disorders, and some genetic bone diseases (hypophosphatasia, fibrous dysplasia, @PHENOTYPICFEATURE$, juvenile Paget disease, @DISEASE$, and osteoporosis pseudoglioma syndrome).	false
+8f4503cec8885d6dbaf3aa0be7749ee73ed0f974	The differential diagnosis of expansile bone lesions includes isolated bone cysts and @PHENOTYPICFEATURE$, such as enchondromas and fibrous dysplasia; @DISEASE$; and the genochondromatoses.	false
+bcca9ebd81ca6920959832920754d36e7ae7ac54	@DISEASE$ (mucopolysaccharidosis II) is a rare X-linked disorder of mucopolysaccharide metabolism that typically progresses to @PHENOTYPICFEATURE$ and death by 18 years of age.	false
+a45d501bdd1d59512973b99565a365ec0e93b043	Bow @DISEASE$ (BHS) is characterized with repeating paroxysmal vertigo, nystagmus and @PHENOTYPICFEATURE$ caused by mechanical compression of the vertebral arteries.	false
+eed4801c125b545d07a7fd2a54904a0cba1ecf7d	Medline and Embase searches found no reference to vitreous or @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cc655caf407c654af9f36512e0d23a11aaf5cf94	Despite intrathecal baclofen administration in patients with @PHENOTYPICFEATURE$ related to @DISEASE$ is not widely reported, we consider it as feasible treatment.	false
+5f8a7f374d531961a1cace5dd310a3be404c0af3	We report the case of a 28-year-old female subject affected by the attenuated phenotype of @DISEASE$ characterized by moderate slowly evolving @PHENOTYPICFEATURE$ in which the urinary content of heparan sulfate was demonstrated as being substantially low compared to that found in patients with the severe phenotype.	false
+a114c899b5926847c02612b4f9342f28030f6bf9	Global developmental delay and @PHENOTYPICFEATURE$ are associated with X-linked disorders including @DISEASE$ (mucopolysaccharidosis type II) and Fragile X syndrome (FXS).	false
+cfc6dacf2d5e3f2a9e0b7db243704b2f91bd8847	Global developmental delay and @PHENOTYPICFEATURE$ are associated with X-linked disorders including Hunter syndrome (@DISEASE$) and Fragile X syndrome (FXS).	false
+5e1d8152c1f636fb7eb08337b4750b5c9b1f9b03	Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with @DISEASE$ and the genotype-phenotype correlation.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+7ec962552c2da08e8c156eff750cce2af96e1a24	Mucopolysaccharidosis type II (@DISEASE$) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+30a5e48ce684c53d4a9a8d94d89208d7dbfb81b0	A moderately severe @PHENOTYPICFEATURE$ affecting all four limbs, but especially the legs and the right side, developed in a 36-year-old man with mucopolysaccharidosis II (@DISEASE$) who for 6 months had suffered from pain in the neck radiating into the shoulder.	false
+444afb4366ac44d0184c4f1e8dc32653d0ba68cd	This protocol enables the correction of large inverted segments and short nucleotide repeat expansions in diseases such as hemophilia A, fragile X syndrome, @DISEASE$, and Friedreich's @PHENOTYPICFEATURE$.	false
+30d197e6bc6328c23939e8c5d5eaf583ea7824da	After surgical repair at birth of an omphalocele, a one-year old child died with pulmonary @PHENOTYPICFEATURE$; multiple venous thromboses were associated with pulmonary arterial thrombosis and acquired @DISEASE$.	false
+a0855a9f810d24b911d4fa061fedd9ceb0e4b5d6	C57/Bl mice have been immunised with papain solubilised CBA transplantation antigen and subsequently challenged with a @DISEASE$ @PHENOTYPICFEATURE$.	false
+29e1fcfe50eb0156a4994d51fb9b3a356fd13f34	Fully quantitative isogeneic transplantation assays of viable (V) cells of a @DISEASE$ carcinoma showed that the relationship between log inoculum and frequency of @PHENOTYPICFEATURE$ "takes" accorded strictly with a Poisson distribution and indicated that 6900 cells were required for 50% takes (TD50).	false
+ba7c6a53cb69879141a7ea9af27e94155403d489	The A spleen cells were from either non-immune donors or mice which had received an i.p. injection of F1 tumours cells 9 days previously, and were thus immune to the @DISEASE$ component of the @PHENOTYPICFEATURE$.	false
+729ef5724d665da65c359bbb79c8b5daf3fe3eef	The A spleen cells were from either non-immune donors or mice which had received an i.p. injection of F1 @PHENOTYPICFEATURE$ cells 9 days previously, and were thus immune to the @DISEASE$ component of the tumour.	false
+37024715792d826e2fedb617b9608699ba81322d	In our previous study, we established a uterine-carcinogenesis model that is useful for detecting @PHENOTYPICFEATURE$-modifying effects of EDCs by the administration of N-ethyl-N-nitrosourea (ENU) to female heterozygous p53-deficient @DISEASE$ mice [p53 (+/-) mice].	false
+59be3cfda4436ab36dbddc54c34d133d608282ef	In experiments with the mammary carcinoma, 2 injections of C. parvum on days + 3 and + 9 were more effective than a single injection on day + 3; injections on days + 3 and + 6, or + 3 and + 12, appeared to be marginally less effective than on days + 3 and + 9, but the difference was not statistically significant.Development of the @DISEASE$ sarcoma was inhibited to about the same extent if, instead of treating the mouse with C. parvum, the @PHENOTYPICFEATURE$ cells were pre-incubated with anti-tumour globulin (ATG) in the absence of complement prior to inoculation, and the effect of combining these procedures was much greater than that of either alone.	false
+d05b4b85fcc2561d1f3e11e7db3c3f31a6c6f324	Of 193 CBA mice kept under prolonged observation after excision of small intradermal transplants of a non-immunogenic @PHENOTYPICFEATURE$ (@DISEASE$ Carcinoma NT), 27 (14%) presented with local recurrence, 19 (10%) with regional lymphnodal metastasis (RNM) and 72 (37%), with pulmonary metastasis +/- other systemic metastases.	false
+a310f3b938b54d396a2cc13d7417dfb673c21a14	@DISEASE$ or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, @PHENOTYPICFEATURE$, and cranial defects.	false
+dba6d67654266b11a4907c790f18af90bde028a0	A new @DISEASE$: @PHENOTYPICFEATURE$, cavernous haemangioma and coarctation of the aorta.	false
+82a11ea912ace2d9f734be7058086b8647c8018f	This observation confirms the previous finding of @PHENOTYPICFEATURE$ in Shprintzen syndrome, and suggests an overlap between the VCFS and @DISEASE$.	false
+f17872888b485f36d66c6396bb749027f6501011	A patient with @DISEASE$, myxedema and @PHENOTYPICFEATURE$.	false
+ebed28fddc4b754b6d3e89a944626176b0c22705	@DISEASE$ results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, @PHENOTYPICFEATURE$, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+1cabe4e96f482e13b2ab55a028c75ac9823d6fd1	@DISEASE$ is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, @PHENOTYPICFEATURE$ and genital abnormalities in males.	false
+4a1bef65492700fad22e9a3ecb5b198d8771358f	Brief report: screening children with @PHENOTYPICFEATURE$ for fragile-X syndrome and @DISEASE$.	false
+b95d575fbcf02bece0a6b755e8f099bd9790b70a	Untreated @DISEASE$ is associated with progressive @PHENOTYPICFEATURE$, evolving towards intellectual impairment.	false
+fbb8e81a709f050d7c74f522e364358f909f62ec	Intelligence patterns among children with high-functioning @PHENOTYPICFEATURE$, @DISEASE$, and childhood head injury.	false
+e583507b032c7edd6c3bff58275188f58ab0b3ef	Congenital and @PHENOTYPICFEATURE$ in infants with @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+2ae1992b84be926459d05ef0e66f3a6129df2585	@DISEASE$ (PKU) is a rare metabolic disorder that leads to severe @PHENOTYPICFEATURE$ unless early treated with a strict phenylalanine (Phe)-restricted diet.	false
+577e878ff06af8644ae447c5bfef29c055114a73	Phenylketonuria (@DISEASE$) is a rare metabolic disorder that leads to severe @PHENOTYPICFEATURE$ unless early treated with a strict phenylalanine (Phe)-restricted diet.	false
+38c20f8f4b370dd56e169e54a5f531e499d20d76	The syndrome has incidence similar to that of @DISEASE$ and @PHENOTYPICFEATURE$ in females.	false
+fb47b966711c53b9df611764a03113087d2a1ddd	Adult care in @DISEASE$ and hyperphenylalaninaemia: the relevance of @PHENOTYPICFEATURE$.	false
+3209f7160da1870efda712235697dc577b319edb	@PHENOTYPICFEATURE$ may accompany some genetic disorders such as fragile X, tuberosclerosis, neurofibromatosis and @DISEASE$ [1].	false
+907de8f5fcd4ef1feb0eac263ede8fc87088e99a	A Chinese @DISEASE$ manifested as @PHENOTYPICFEATURE$.	false
+f2ad4af7af4626b51a1df090118c2c80f563f3ea	The pathogenesis and clinical features of chronic GVHD resemble those of several autoimmune diseases including progressive systemic sclerosis, systemic lupus @PHENOTYPICFEATURE$, lichen planus, Sj?gren's syndrome, rheumatoid arthritis, and @DISEASE$.	false
+d786d83953b2c1a8c4e7af6b1645075c8d6161fa	CNV has been shown in patients with chronic infections (viral, bacterial, protozoa, helminthic), serum sickness, a variety of collagen vascular diseases (systemic lupus @PHENOTYPICFEATURE$, Sj?gren's syndrome, rheumatoid arthritis, Beh?et's disease) hyperglobulinemic states, cryoglobulinemia, bowel bypass syndrome, ulcerative colitis, cystic fibrosis, @DISEASE$ and HIV infection.	false
+024275e8c56b9110129c54d8773d442c28eb09d7	The entire SS-ACA group (n = 20) showed greater frequency of Raynaud's phenomenon, objective xerophthalmia, @PHENOTYPICFEATURE$, and additional autoimmune disorders, especially @DISEASE$, compared to pSS patients without ACA (p = 0.005, p = 0.04, p = 0.001, p = 0.05, p < 0.0001, respectively).	false
+c1bcb739ab98670da65636a5481e947312deb065	The third patient, a 75 year old man with @DISEASE$, myelodysplasia, and systemic immune complex vasculitis, had progressive renal insufficiency, a macular @PHENOTYPICFEATURE$ rash, and severe thrombocytopenia.	false
+dee250583ee3c13f8caa6566ff443137634ad131	Autonomic and @PHENOTYPICFEATURE$ in @DISEASE$: evidence of small sensory fibre damage and prolongation of the QT interval.	false
+e784c227bc7deddba4a6d70caf6dbfa2cf1586a0	@DISEASE$ (n = 258) occurred predominantly in middle-aged women who were usually symptomatic with fatigue and pruritus, commonly had @PHENOTYPICFEATURE$, and often were hyperpigmented.	false
+3f9618105a7f9d36076ed29dbe91e77a9030bf2e	Autonomic and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+75c6a7ce2bec81d85a683c671cb19f0307daa53a	The 59-year-old patient had esophageal varices bleeding due to @DISEASE$ (ammonium blood level: 140 mmoL/L) and presented with sensory Jacksonian seizures, dysarthria, and increased @PHENOTYPICFEATURE$ and fatigue.	false
+0015fded8256aa845a424f39fcf3add8285609e0	@DISEASE$ (PBC) is associated with fatigue, @PHENOTYPICFEATURE$, and sleep disturbances.	false
+7be7b88f2440f4d23e59217ae7a08a7ad3abfe66	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including @DISEASE$ and autoimmune hepatitis.	false
+a43fbfa2b5278c2180072f5ff6d2a84cb7e79f91	A longitudinal survey study of community-dwelling adults with one of four chronic physical conditions (multiple sclerosis, @PHENOTYPICFEATURE$, spinal cord injury, @DISEASE$).	false
+c65ab85a20c90e2d68764d17b3a10fe13f16daf1	Three surveys were mailed on an approximately yearly basis to community-dwelling adults with one of four chronic physical conditions (spinal cord injury, multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$).	false
+dcf81a5fed8c4736435e178756bb7d1fd4d452f3	Surveys were mailed to a community sample of individuals with 1 of 4 diagnoses: multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$, or spinal cord injury.	false
+35e183b562326cd211104a87a0b73f757bffca3b	A convenience sample of community-dwelling individuals (N=1594; age range, 20-94y) with multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$, or spinal cord injury.	false
+4c7d8c22d528fc1ec44310cdded22b46bd56155d	Surveys were mailed (81% response rate) to a community sample of 1949 individuals with multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$, or spinal cord injury.	false
+8bafac204c3b8ae3a4e645f9acbf4ca21fdf9402	In 9 focus groups, we examined perspectives of "successful aging" in 49 middle-aged and older individuals living with spinal cord injury, multiple sclerosis, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+ae6e494ca7a8802c71b658b7ca008d3cffb72b17	Amfepramone (@DISEASE$) is an appetite-suppressant drug used in the treatment of @PHENOTYPICFEATURE$.	false
+093c67efdf88587edc3c7e9975722242be5eb953	B-scan layer-by-layer analysis and unique SD-OCT reflectivity patterns of the following retinal white lesions are reviewed in the order of their retinal layer localization: myelinated nerve fiber layer, cotton wool spot, exudates, @PHENOTYPICFEATURE$ residues, drusen, fundus albipunctatus, @DISEASE$, Bietti crystalline dystrophy, punctate inner choroidopathy (PIC), presumed ocular histoplasmosis syndrome (POHS), post-photocoagulation chorioretinal scarring, and osseous choristoma.	false
+552117874b22f34de89a7ab1e7c4d8dbbc7740bc	Homozygous and compound heterozygous mutations in SETX are associated with @DISEASE$ disease, a recessive form of ataxia with @PHENOTYPICFEATURE$ and neuropathy with onset of ataxia between the first and second decade of life.	false
+432f1ce6b8480a4fe2a65709857f5c890cd80e95	The management of ADHD and associated problems in a young person with @DISEASE$ (CCD) and mild @PHENOTYPICFEATURE$.	false
+615781704ae59e85633652aa7de4eb5be5570b35	It is reported on four girls aged 8 to 20 with Incontinentia pigmenti (Ip) The ectodermal dysplasia was associated with oligophrenia, therapy resistant epilepsy with severe psychorganic syndromes and dementia, Lennox syndrome, lability of emotion with severe disorders of social adaptations, @PHENOTYPICFEATURE$, hypo- and areflexia, hemiathetosis, choreiform unrest, pathological EEG findings, including spike-potentials; relations to @DISEASE$, dysraphia, Poland's, Greig's and Chotzen's syndrome were found.	false
+6b30cf89a1756bf8bbbb093fa2efaa6901a2b9c6	Herein, we present a case of a 10-year-old girl, who not only suffered with @DISEASE$, but experienced frequent @PHENOTYPICFEATURE$.	false
+606a0a53dfea206f7bd116bcba56e19df05e0955	@DISEASE$ (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies of brain architecture and variable degrees of @PHENOTYPICFEATURE$.	false
+59c82c0b28cbca9ef96b75027078819f98262650	We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset @PHENOTYPICFEATURE$ with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature @DISEASE$ in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures.	false
+706823aefd018575c969c893fa168dcee3ba46a9	According to the final diagnosis, 36 patients suffered from primary aldosteronism, 33 from Cushing's syndrome, 8 from low renin hypertension, 6 from nonfunctioning adrenal tumour, 4 from simple @PHENOTYPICFEATURE$, 3 from adrenal metastases, 1 from congenital adrenal hyperplasia, 1 from virilizing adrenal adenoma, 1 from extraadrenal phaeochromocytoma, 1 from @DISEASE$.	false
+5ffe20f3025686d7b8d79efd9dfb7bb646f88ea9	In humans it has been observed that infants prenatally exposed to hyperthermia presented with @PHENOTYPICFEATURE$, encephalocele, microphthalmia, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, Hirschsprung disease, M?bius syndrome, @DISEASE$, and spontaneous abortions.	false
+882a59cae5861e8ac25eb3b653f59aed10577fc4	Mitochondrial cytochrome b gene deletion in @DISEASE$ associated with a subclinical type of @PHENOTYPICFEATURE$.	false
+e2012529a797e2bf985968ae64efdfe999a94c9b	Twenty-eight patients with mitochondrial disease were systematically investigated on clinical and electrophysiological grounds for @PHENOTYPICFEATURE$ (PN): 25 had predominant ophthalmoplegia (including 4 with @DISEASE$) and 3 had predominant central nervous system involvement.	false
+aed14e880655cc8477523ad2d679307bfddda260	Common causes include transient tachypnea of the newborn, neonatal @PHENOTYPICFEATURE$, respiratory distress syndrome (RDS), and meconium aspiration syndrome (@DISEASE$).	false
+3815b6ade4a41342f802c71ad70a083e04ee156b	@PHENOTYPICFEATURE$ @DISEASE$ Classification.	false
+7ecae9dc08609006bbec8922a41f5b72b4fc783b	At the time of diagnosis, the 5 patients who developed @DISEASE$ differed from the remaining 102 in the prevalence of @PHENOTYPICFEATURE$, and they showed increased systemic score values.	false
+457da503dacc9bb3482a0a8551b2b7d1968df6cd	With increasing experience, the benefits of minimally access surgery (@DISEASE$) are being applied to emergency indications such as evaluation of peritonitis and @PHENOTYPICFEATURE$, appendectomy, repair of perforated ulcers and other acute conditions.	false
+51b8c76c79eb5977d4724313adaf4b3ae902c76d	Aortorenal bypass with the saphenous vein was performed in 6 patients with renal @PHENOTYPICFEATURE$ and 1 patient with @DISEASE$.	false
+ce6b46da84cbf214dd89f6a260bf8d80c2f1c3e6	A 9-year-old boy presented with headaches and @PHENOTYPICFEATURE$ and was diagnosed with severe hypertension secondary to idiopathic @DISEASE$ affecting a long segment of the abdominal aorta and left renal artery stenosis.	false
+32916cc700b5518fb4d2e5ed5b4adf2223201a2f	We identified 412 cases without pulmonary diseases, 228 TTN cases, 358 respiratory distress syndrome (RDS) cases, 85 meconium aspiration syndrome (@DISEASE$) cases, 215 infectious @PHENOTYPICFEATURE$ cases, and 60 other cases.	false
+753f17e0964ab5dcf19eee4f9f9aa0f740cb7c4e	Nine patients had renal @PHENOTYPICFEATURE$, and 10 patients had midaortic syndrome (@DISEASE$).	false
+a3d70bf953b945d5025baa67f2de4b42edd4762b	The Sydney Memory and Ageing Study (Sydney @DISEASE$) was initiated in 2005 to examine the clinical characteristics and prevalence of mild @PHENOTYPICFEATURE$ (MCI) and related syndromes, and to determine the rate of change in cognitive function over time.	false
+ed741118a7e27e73e87566dfbb401e4d9b32b7a0	The presence of these osseous findings in the context of multiple skeletal abnormalities suggestive of a @PHENOTYPICFEATURE$ should indicate the possibility of @DISEASE$ and pathognomonic features for this entity should be sought.	false
+3cde9bcdf206276da2171cf5463d47c37d3d5b37	The type II collagenopathies form a continuous spectrum of clinical severity, ranging from lethal achondrogenesis type II and hypochondrogenesis, through spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$ and @DISEASE$ to the Stickler syndrome and familial precocious osteoarthropathy at the mildest end of the spectrum.	false
+73ad74aab6c4779c72591c8b799d3e14f4d71aeb	A search in the database at the International @PHENOTYPICFEATURE$ Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, @DISEASE$ and short rib polydactyly syndrome.	false
+f8ae264adc3accebb840a14f8426b39c3cab145d	They include achondrogenesis type II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, @PHENOTYPICFEATURE$, @DISEASE$, and Stickler syndrome.	false
+849ac897ec3c4e9b74a8347dc55b06daae445201	The disease phenotype of oculo-@PHENOTYPICFEATURE$ (OSD) detected in Labrador retrievers and Samoyeds shows a large degree of similarity with human Stickler and @DISEASE$.	false
+e47ced5d6c30d680ed55284595cb3f2ae7a94ae6	[Vascular spiders, palmar @PHENOTYPICFEATURE$ and Dupuytren's contracture in alcoholic @DISEASE$ cirrhosis.	false
+a71536adf9d0ea62eba18c20b455b054a9cc6556	Isoniazid may cause @DISEASE$ toxicity and an also be an asue of @PHENOTYPICFEATURE$.	false
+11ca469ad3db6c06d2c23e26537f3c7b24d164fb	He had splenomegaly, impairment of @DISEASE$ function and @PHENOTYPICFEATURE$ with decreased tendon reflexes.	false
+8d69e9f6551373af292bb5612e1432c197b1e12e	At 9 weeks after the initiation of levofloxacin, the patient developed cervical lymphadenopathy, fever, systemic @PHENOTYPICFEATURE$, and @DISEASE$ dysfunction.	false
+c998eb170881550ee6c45c80df73f2a9b4d87267	@DISEASE$ dysfunction and @PHENOTYPICFEATURE$ were notable complications.	false
+3acdb1c3039f23215c3ac89dfeb0aec064055bea	[Correlations of @DISEASE$ injury, @PHENOTYPICFEATURE$, cerebral injury and epileptic crisis in chronic alcoholics].	false
+372226e00fb397210e6f3620ff8c9ac0b9847dea	At US, liver size, echogenicity (graded as mild-to-moderate or severe indicating a corresponding degree of @DISEASE$ steatosis), focal lesions of the liver and gallbladder, and @PHENOTYPICFEATURE$ were recorded.	false
+31a7aa7d6b5a589250ad16acf286883bb3f41c2e	NLE is characterized by cutaneous @PHENOTYPICFEATURE$, congenital heart block (CHB), @DISEASE$ dysfunction and hematological abnormalities.	false
+0dc4c3205cb69091953210caba486517ad3aa383	A recessive disorder with growth and mental retardation, peculiar facies, @PHENOTYPICFEATURE$, @DISEASE$ cirrhosis and aminoaciduria.	false
+28b50f8b5ae99147d3144029e79e12da3c115350	The severity of the disease was assessed by the age at onset, @DISEASE$ involvement, @PHENOTYPICFEATURE$, and cholesterol esterification studies.	false
+f6d7f0c5ae3e1966869e5d4683b410c550753261	Patients were categorized as having cholecystitis with or without gangrene or @PHENOTYPICFEATURE$ of the gallbladder wall unrelated to @DISEASE$.	false
+096a49377615c98d26b6fa9ef7c5107f171d1060	T2-weighted imaging and MRCP, which have high sensitivity to @PHENOTYPICFEATURE$ and fluid, are paramount in the evaluation of certain @DISEASE$, such as cholelithiasis, cholecystitis, adenomyomatosis, and cystic duct abnormalities.	false
+7a62ca6a2b9a79d8023290393f888c07fd74f76d	Seven patients presented with @PHENOTYPICFEATURE$ and signs of infection; one infant presented with lethargy and later proved to have @DISEASE$.	false
+f5a6d7440a810a520adde7517d582590686e2b20	Twenty-five patients had @DISEASE$ patients had ataxia, 7 patients had @PHENOTYPICFEATURE$-athetosis, 8 patients had tremor, and 7 patients had hyperkinetic movements.	false
+2bf56ebbf80203ad6ab0a468c20c10fae8edabf8	However, the patient showed a de novo @PHENOTYPICFEATURE$ 2587T?C in exon 10 of KCNH2 gene associated with @DISEASE$.	false
+558c89859ba5cb03d8844405b821502a9ad60791	We report the successful management of a 4-year-old male child with fetal hydantoin syndrome, @PHENOTYPICFEATURE$, spina bifida, atrial septal defect, and @DISEASE$ for tibialis anterior lengthening under subarachnoid block.	false
+5ffd9f4869f83dd49ba94afaee875e43ccafe8ad	@PHENOTYPICFEATURE$ were detected in four cases, and @DISEASE$ in one; all patients had a neurogenic bladder.	false
+95c23aa5ecca464384fbb09db7049f7c13168c95	Renal anomalies were detected in four cases, and @DISEASE$ in one; all patients had a @PHENOTYPICFEATURE$.	false
+4bdbba1933a66eea58f959206c3b31252c3b0aff	Mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities, and coarse face with full lips: confirmation of the @DISEASE$.	false
+bd69b173b8b8398e6e2f97dcea3bfad10ff2c413	Eosinophilic fasciiitis is an idiopathic and uncommon condition, a @DISEASE$-like disorder that predominantly affects the extremities and is characterized by marked thickening and inflammation of the fascia, associated with with peripheral blood @PHENOTYPICFEATURE$, hypergammaglobulinemia, and characteristic histologic findings.	false
+8e2c4c4d4e04588f34a4be33902470478b54b0de	Clinical features of Werner's syndrome closely resemble accelerated aging, such as @PHENOTYPICFEATURE$, @DISEASE$ skin, diabetes and tumorigenesis.	false
+2ef45eeea927d0d92d64247393214a4ddd9ec739	@DISEASE$-like skin involvement is associated with @PHENOTYPICFEATURE$ and hypergammaglobulinemia.	false
+c40d1923b66097ffea777451c98cdc1eb0dd7bff	Eosinophilic fasciitis is an uncommon @DISEASE$-like disorder characterised by induration and thickening of skin and soft tissue, usually associated with peripheral @PHENOTYPICFEATURE$, poorly characterised in childhood.	false
+abc96957a30d426a0686b360b578ae920fd52d05	Nine HIV patients with chronic diarrhea, @PHENOTYPICFEATURE$, and no detectable intestinal pathogens, two healthy volunteers, and three non-HIV patients with chronic diarrhea (two functional and one with @DISEASE$) were enrolled.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+abcebaeca7a6c18e35ae9599e2f705c5cff1b0a1	Involvement of the eighth cranial nerve with @DISEASE$ and CREST syndrome is rare, but appears to be the cause of @PHENOTYPICFEATURE$ in our patient.	false
+ef152c2960b6410fdd401d6acb26764528c79f65	Also noted were diabetes mellitus, @PHENOTYPICFEATURE$, @DISEASE$-like skin atrophy, osteoporosis, and hypogonadism.	false
+8efbb9a47748e604d0f205180381a4989939213c	This entity previously had multiple classifications and it is important to distinguish it from other keratodermas as some keratodermas can be linked to cutaneous and internal malignancies and conditions: polycystic kidney disease, liver cysts, @DISEASE$, and @PHENOTYPICFEATURE$ among others.	false
+86a097bc0a2457f8f1a92b429b8f0878b0c23b03	We focus on two common @PHENOTYPICFEATURE$ (onychomatricoma and onychopapilloma), two rare genetic conditions that can be diagnosed owing to nail changes (@DISEASE$ and nail patella syndrome), and two uncommon acquired disorders (the yellow nail syndrome and lichen striatus).	false
+d42659e2920b992e51b07b3c4eca928ad441b79b	@DISEASE$ (keratosis follicularis) is a rare vulval lesion and it has been associated with squamous and non-squamous @PHENOTYPICFEATURE$ from different origin.	false
+0f5ae080fd3bfdf73c214b4d234a389b7a91e907	Darier's disease (@DISEASE$) is a rare vulval lesion and it has been associated with squamous and non-squamous @PHENOTYPICFEATURE$ from different origin.	false
+fdbba4caef612997dc504e196001a349f636d21f	Craniocerebral hypothermia was employed in multimodality treatment of 10 patients with hypertoxic @DISEASE$ and 60 patients with intoxication psychoses, the clinical picture of which was characterized by increasing hypoxia and @PHENOTYPICFEATURE$-swelling of the brain.	false
+44a732df3d2491d55910fcb94902f8d1ae9271e1	The study included patients with @DISEASE$ and @PHENOTYPICFEATURE$ without coincident pathology.	false
+0e17e34ab5c88ab04a5f400db53f30f1011e67f0	There were 7 eyes with @DISEASE$ and 9 eyes with pseudophakic bullous keratopathy (PBK) that underwent DSAEK, and 17 eyes with Fuchs endothelial dystrophy and @PHENOTYPICFEATURE$ that underwent combined DSAEK with phacoemulsification cataract surgery.	false
+f48edf3c64e8d0b18f8e4f9bdacce1ab8d00277a	There were 7 eyes with Fuchs endothelial dystrophy and 9 eyes with pseudophakic bullous keratopathy (PBK) that underwent DSAEK, and 17 eyes with @DISEASE$ and @PHENOTYPICFEATURE$ that underwent combined DSAEK with phacoemulsification cataract surgery.	false
+f0ca6c230635bff713a939dbea0e53e3113dbe0a	There were 7 eyes with Fuchs endothelial dystrophy and 9 eyes with pseudophakic bullous keratopathy (PBK) that underwent DSAEK, and 17 eyes with @DISEASE$ and cataract that underwent combined DSAEK with phacoemulsification @PHENOTYPICFEATURE$ surgery.	false
+58020db87dd32c0d4e43a00eb29e258209c8d317	There were 7 eyes with @DISEASE$ and 9 eyes with pseudophakic bullous keratopathy (PBK) that underwent DSAEK, and 17 eyes with Fuchs endothelial dystrophy and cataract that underwent combined DSAEK with phacoemulsification @PHENOTYPICFEATURE$ surgery.	false
+85b19bde4d730e950aea2e5fdd685502d8c03b3d	Eyes with mild or moderate @DISEASE$ and cataracts had femtosecond laser-assisted @PHENOTYPICFEATURE$ surgery or phacoemulsification.	false
+0020ef2efb9b781d35cd172be993a34cf0f15685	Eyes with mild or moderate @DISEASE$ and @PHENOTYPICFEATURE$ had femtosecond laser-assisted cataract surgery or phacoemulsification.	false
+e3b1edf0386a123ed5734a677a0e03bd70274793	Forty-one had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+79e03868cc5245872e2cfc8bd7ede222c3e98f00	Fuchs' endothelial corneal dystrophy (@DISEASE$) is a major corneal disorder affecting the innermost part of the cornea, leading to @PHENOTYPICFEATURE$.	false
+3ceab1196e43d721fb91861f822a4f4b450c256b	@DISEASE$ (FECD) is a major corneal disorder affecting the innermost part of the cornea, leading to @PHENOTYPICFEATURE$.	false
+65d6df84a7f2b878a5d352d92f2d867fe025d177	Relationship Between @DISEASE$ Severity and @PHENOTYPICFEATURE$ and/or Ocular Hypertension.	false
+be7c679aa649653f4db1d7ea56ecd3a64e962e2d	Prospective interventional case series of patients with Fuchs endothelial dystrophy, @DISEASE$ and @PHENOTYPICFEATURE$, and pseudophakic bullous keratopathy (n = 12 grafts).	false
+9280ec5e9fb82ab11e26de4a66006599ae6a9546	Prospective interventional case series of patients with @DISEASE$, Fuchs endothelial dystrophy and @PHENOTYPICFEATURE$, and pseudophakic bullous keratopathy (n = 12 grafts).	false
+e8129e3f3367ff01ccf1a6e2d7d3696937a532e5	The leading surgical indications were @DISEASE$ (27%), pseudophakic corneal edema (26%), keratoconus (13%), and viral @PHENOTYPICFEATURE$ (8%).	false
+be6459a73188b9c3c8bb96af7f17b0a74646980a	Approaching @PHENOTYPICFEATURE$ surgery in patients with @DISEASE$.	false
+c9c2964740c7ed6cfc2667415589b883cbc76d04	Eighty-nine patients (89 eyes) with @DISEASE$ who require @PHENOTYPICFEATURE$ surgery.	false
+333a86afd084d0a4617c61dfd49f8c872f531236	Her baby had multiple @PHENOTYPICFEATURE$, subsequently diagnosed as @DISEASE$.	false
+44d3df6a6b13b750a7685470a662ffc51713f468	This syndrome represents a lethal form of @DISEASE$, and the essential neuropathologic findings are marked reduction in the number of spinal motor cells and @PHENOTYPICFEATURE$.	false
+f540b6ee50ed5a59d20e9811bfda9e5536ba409d	@DISEASE$ distal type II associated with @PHENOTYPICFEATURE$, renal abnormality, polydactyly and Hirschprung's disease.	false
+1c37a6718c8898ae979755b104314923b55b1cda	A child with @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+9824f039f49ebcf692340d9aca13d951482dec21	The whistling face syndrome (@DISEASE$) is a rare disorder characterized by typical face and @PHENOTYPICFEATURE$.	false
+3a2910418238f6b83554f413aafbf1ce60642e3c	All three neonates had @PHENOTYPICFEATURE$, @DISEASE$, and micropenis.	false
+f4cad6b1bea4def22db369a5c55bd8db018559c2	A case of @DISEASE$ distal type II associated with @PHENOTYPICFEATURE$, renal abnormality, postaxial poydactyly and Hirschprung's disease is described.	false
+2f2ecae5637ba92af833a5c7c1005376c380bf89	(1) To investigate the impact of perinatal common mental disorders (@DISEASE$) in Ethiopia on the risk of key illnesses of early infancy: diarrhoea, @PHENOTYPICFEATURE$ and acute respiratory illnesses (ARI) and (2) to explore the potential mediating role of maternal health behaviours.	false
+b03e0d1da6b2026f7a63f816f45421d29628de71	We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of @DISEASE$ (CMD) in association with @PHENOTYPICFEATURE$, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation.	false
+e3c403936cdbc3f07491c212bf0aef1dd43d42ee	We report 5 cases (2 familial and 3 sporadic) who share a diagnosis of congenital muscular dystrophy (@DISEASE$) in association with @PHENOTYPICFEATURE$, proximal contractures, rigidity of the spine and distal joint laxity as well as early respiratory failure and mild to moderate mental retardation.	false
+27efbb7d9a2749785c3a1be4573931facbf79e96	The first group included 36 patients who had fluctuating hearing loss without @PHENOTYPICFEATURE$, as candidates for cochlear Meniere's disease (@DISEASE$).	false
+043749b4c21663477c66161733187d57ab07a4fa	The findings have been analysed in order to identify symptoms of @DISEASE$ related to tinnitus, and it was concluded that awareness of diurnal bruxism and feeling of jaw tenderness/fatigue may be related to fluctuating tinnitus, @PHENOTYPICFEATURE$ and hyperacusis.	false
+efce567acfb697faf8dd200b7f27546529475654	@DISEASE$ with @PHENOTYPICFEATURE$, proximal contractures and distal laxity.	false
+2221023ce5316fc9e484a3bb875446f2f9c8d68c	Lamin A/C related @DISEASE$ (L-CMD) is often caused by de novo @PHENOTYPICFEATURE$ in LMNA, affecting a single child in a family.	false
+7786a4a2c08a42c5736142123c01d7ab95cf80b2	The distinctive clinical hallmark of the dropped head led us to the diagnosis of Lamin A/C-related @DISEASE$, with a pathogenic de novo @PHENOTYPICFEATURE$ p.Glu31del in the head domain of the Lamin A/C gene in both patients.	false
+5119b71439cb4c22206676f67f21647f0be5c041	In @DISEASE$ half the patients with a low density area showed a spike or a spike-and-wave complex in the electroencephalogram, and @PHENOTYPICFEATURE$ was evident in several cases.	false
+2f86359d079fb9a8f366c097a97c2c0b01d77183	Altogether these data demonstrate that mutations in INPP5K cause a @DISEASE$ syndrome with @PHENOTYPICFEATURE$, cataracts, and intellectual disability.	false
+434bab69d269e48e9331694340bcf7e85a2f5d17	Here, we identified a novel heterozygous LMNA p.R388P de novo @PHENOTYPICFEATURE$ in a patient with a non-previously described severe phenotype comprising @DISEASE$ (L-CMD) and lipodystrophy.	false
+6ef415dd3f32674cdd6b6edf6e9ff2d947b11874	Two patients with @DISEASE$ died because of carcinomatous @PHENOTYPICFEATURE$ or tumor size progression.	false
+02087abc4e3e038467c1cda6e5de21f6f1a3af60	Clinical Reasoning: Left hemiparesis, @PHENOTYPICFEATURE$, and optic neuritis in a child previously treated for @DISEASE$.	false
+37bbef673b11e0fd37880d758180663a35a4dbd2	Our patient presented with the complaint of gingival enlargement associated with progressive @PHENOTYPICFEATURE$, characteristic of @DISEASE$.	false
+82fc103271757f3d6b27782e4e974ac7b8340004	Side effects for all medications were minimal and included slight to moderate @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5ee34442dc6e8275002473f332f6cb159e2dc504	Reported symptoms included @PHENOTYPICFEATURE$, slurred speech, altered levels of consciousness, hypertension, tachycardia, electrocardiogram abnormalities, atypical motor behavior, tremors, and other @DISEASE$ (not specified).	false
+94f54be63a82abec9d36d22a5d5eae5e57ced488	The group with MCI with mild @DISEASE$ were observed to have a greater prevalence of patients with anxiety, depression, apathy and @PHENOTYPICFEATURE$ than in MCI without EPS.	false
+49122f0dd3d9d0926d7d241a177d155adfa5b518	The group with MCI with mild EPS were observed to have a greater prevalence of patients with anxiety, depression, apathy and @PHENOTYPICFEATURE$ than in MCI without @DISEASE$.	false
+98f2f48a32e192111334af91f903ac30f29389f3	All adverse events examined (sedation/@PHENOTYPICFEATURE$, headaches, involuntary movements/extrapyramidal symptoms (@DISEASE$), cardiovascular events, hypertension, and orthostatic hypotension) were more prevalent in the antimanic-treated cohort.	false
+416e76b414596a73e327075364ccd82d18cbaa44	Side effects were reported for 38% of the patients, with delirium, extrapyramidal symptoms (@DISEASE$), and @PHENOTYPICFEATURE$ or lethargy being the most common.	false
+b939b705ff4e2f1e05f41cc613dfb77ca2e4efb9	We report a case of a patient with a history of TCC who presented with lethargy and @PHENOTYPICFEATURE$ and was found to have a @DISEASE$ cerebellar lesion consistent with metastatic disease.	false
+de90b285e693e74574a590824c4caa18b4f669b8	Novel clinical features found to be associated with type-1 NF1 deletions included pes cavus (17% of patients), @DISEASE$ (50%), attention deficit (73%), @PHENOTYPICFEATURE$ (45%) and speech difficulties (48%).	false
+94bbe6420b1f43eb5d6ad76141f25bb6418831f0	These patients did not exhibit facial dysmorphism, attention deficit hyperactivity disorder, delayed cognitive development and/or learning disabilities, cognitive impairment, congenital heart disease, hyperflexibility of joints, large hands and feet, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+ab4881f587ff5170b3cd7b60247a7f9cf7ac2963	Examination showed low-set ears, @PHENOTYPICFEATURE$, coloboma, left @DISEASE$ and genital hypoplasia.	false
+0d023c462c60534c767655be5d6418fbcf17ae9c	Thus, congenital nerve @PHENOTYPICFEATURE$ should be considered as a possible congenital anomaly associated with @DISEASE$.	false
+ed76b0ed1d73d909768106154e00343aa686fc79	CHARGE syndrome is a complex of birth defects including coloboma, @DISEASE$, ear malformations and @PHENOTYPICFEATURE$, cardiac defects, and growth delay.	false
+f4ba90a841e6de4251531a5da507a3838ca1924a	She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, @DISEASE$, genital hypoplasia, and @PHENOTYPICFEATURE$, which was diagnosed as CHARGE syndrome.	false
+959725923db110e2335b9be4bc554f7ec4d607e4	She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, @PHENOTYPICFEATURE$, @DISEASE$, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome.	false
+826076b197e56ebbebef32ac2cbb255b6b44bfca	CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, @DISEASE$ or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including @PHENOTYPICFEATURE$.	false
+28218fd785572792c0bb3fb1f705b1c5696c7565	CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, @PHENOTYPICFEATURE$, @DISEASE$ or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including deafness.	false
+d799dbdef9def2885d7080a435721a865ac5dd58	CHARGE (Coloboma of the eye, @PHENOTYPICFEATURE$, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness) syndrome is a genetic disorder with prominent otolaryngologic features including @DISEASE$ and inner ear malformations.	false
+e36f2e639d2fd14d7ed1da05efd1040c1e512b67	CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or @PHENOTYPICFEATURE$) syndrome is a genetic disorder with prominent otolaryngologic features including @DISEASE$ and inner ear malformations.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+ef5686a38cdfab57ad1c1c74b893594c68c4c359	Clinical examination showed atypical CHARGE syndrome, with @DISEASE$, a @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+0478e4c1ff19e03fa2a254526ad2db5914b32268	@DISEASE$, @PHENOTYPICFEATURE$ and the cranial features of Crouzon syndrome should suggest the diagnosis of CAN even before acanthosis appears.	false
+e69fd204c3e650c4cd07fc1f23840aa314dd2f55	@DISEASE$ and @PHENOTYPICFEATURE$ are other features.	false
+eedae195ffc1dd90538e0687af6c633458b76946	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (@DISEASE$.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+beeb7c267ebd5ebca15db52e786fc9f4efc47717	@PHENOTYPICFEATURE$ and @DISEASE$ are rare thymic epithelial tumors.	false
+141c64bbab467f8eb236c210159fb712fa68937c	A 68-year-old man with recurrent bilateral severe @PHENOTYPICFEATURE$ and invasive @DISEASE$ was admitted to our hospital.	false
+e2297bb6f1b3a7cbd589c2e02a3855d94c0517dd	Data for the differential diagnosis are presented, and in the first place those concerning intra-sterno-clavicular @PHENOTYPICFEATURE$, sterno-costo-clavicular arthrosis, chronic subacute osteitis, avascular necrosis of the clavicular epiphysis (Friedrich disease), and @DISEASE$.	false
+d74e5ec5b805881149df38a3aade3c5d9da3f6ca	Recessive variants in these genes are associated with @DISEASE$ (JLNS1 and JLNS2), a cardio-auditory syndrome characterized by congenital profound @PHENOTYPICFEATURE$ and a prolonged QT interval that can cause ventricular arrhythmias and sudden cardiac death.	false
+d68b779061c605c722b6c1b1d77e72dd48ef9835	The much rarer @DISEASE$ (with marked QT prolongation and @PHENOTYPICFEATURE$) arises when a child inherits mutant KVLQT1 or minK alleles from both parents.	false
+5bf150947d5e931289a28713077fe79f4ef93a19	Noncardiogenic @PHENOTYPICFEATURE$ is prominent in @DISEASE$ as is cardiac dysfunction.	false
+d75ef734a8e2eace46afacba61741cf0ac90781c	In bivariate analysis, @PHENOTYPICFEATURE$ (P=0.033) and median age (10 months; P=0.005) were associated with @DISEASE$.	false
+4d7cd8de8e6f1defa0d9e5a7c8855f0bd43791a8	Mechanisms of MEC permeability and targets for resolving lethal @PHENOTYPICFEATURE$ during @DISEASE$ remain enigmatic.	false
+f9507018f7c8895ff251300d8c4b63f55af722f2	American hantaviruses cause a highly lethal acute @PHENOTYPICFEATURE$ termed hantavirus pulmonary syndrome (@DISEASE$).	false
+63e2ff4b65118251762ba1077a6dab3608620f8e	Hepatopulmonary syndrome (@DISEASE$) and portopulmonary hypertension (PoPH) are extrahepatic complications of @PHENOTYPICFEATURE$ (BA).	false
+b39b250fcb048c55cefc674d5e6fbf74b2166ea2	Significantly increased PEF and PBMC VEGF levels are consistent with acute @PHENOTYPICFEATURE$ observed in HPS patients and @DISEASE$ disease severity.	false
+a947bc43bb81e7c9da385d59c9dca6be16eda546	Significantly increased PEF and PBMC VEGF levels are consistent with acute @PHENOTYPICFEATURE$ observed in @DISEASE$ patients and HPS disease severity.	false
+673bc4281b54fd20228d03fd664461d13f64e1c3	yr) had @DISEASE$: @PHENOTYPICFEATURE$ (n = 8), idiopathic biliary cirrhosis (n = 4), progressive intrahepatic cholestasis (n = 2), miscellaneous (n = 4).	false
+711a89d87dbfbbec7e454e2a3bd4522ab648329e	The patient suffered from end-stage liver disease with @DISEASE$ due to @PHENOTYPICFEATURE$, which contributed to the development of a diffuse pulmonary AVF.	false
+929af55c777b3a55c0d67f066d72da15b2e9eb9d	This patient was diagnosed with @DISEASE$ associated with extra-hepatic @PHENOTYPICFEATURE$ when she was 10 years old.	false
+2456103f2eb9645fe0823dca8dda0f26b7df7ba1	However, the role of VEGF in acute @PHENOTYPICFEATURE$ observed in @DISEASE$ patients remains unclear.	false
+a2ec496c334c8dbc61cbffb9b98aaa318a33daaa	With a cut-off point of 900 pg/ml (used for including @PHENOTYPICFEATURE$ in patients aged between 50 and 75, such as the patients in this study) 3/51 of patients with @DISEASE$ and chronic HCV infection and 0/54 controls had high NTproBNP (chi-square; P = 0.07).	false
+ba036386337c3ef03b823a1394bcbbd20233c266	Chronic infections with hepatitis C virus (HCV) are associated with various @PHENOTYPICFEATURE$ manifestations, i.e. @DISEASE$, membranoproliferative glomerulonephritis, autoimmune thyroid diseases, sporadic porphyria cutanea tarda and B cell lymphoma.	false
+08067aa268b7680e18d8b06e6057ab0ce8e2195e	A case of hepatitis C virus (HCV)-negative @DISEASE$ with initial skin, joint, and liver involvement, complicated by severe renal and @PHENOTYPICFEATURE$ and resistant to corticosteroid therapy, plasmapheresis, chlorambucil, and cyclophosphamide is presented.	false
+63a9ac7e3392e0346e833366e362709ab4a432b4	Anti-CD20 monoclonal antibody (rituximab) treatment for hepatitis C-negative therapy-resistant @DISEASE$ with renal and @PHENOTYPICFEATURE$.	false
+1cd68804720f0c7310037702c6df5fba9461f5bd	Many patients with @DISEASE$ and chronic HCV infection experience symptoms, such as dyspnea, which sometimes do not seem to indicate the involvement of the liver but rather the symptoms of @PHENOTYPICFEATURE$.	false
+7ddce223f19043d9239eb6e6dc658a882cb9552d	Further diagnostic measures confirmed Sj?gren syndrome and revealed @DISEASE$, membranoproliferative glomerulonephritis with acute renal failure, Hashimoto thyroiditis, and acute @PHENOTYPICFEATURE$.	false
+2f83d16fffac1de7b328a58d762998d2e6a9603c	@DISEASE$: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, @PHENOTYPICFEATURE$, and hypodontia.	false
+89b4f2cae2bfe4fce47617254008d63b02f0b40f	p63 mutations also cause the other five inherited syndromes: symptoms are overlapping, but each of these diseases has its own characteristic phenotypic features: for instance AEC syndrome (@PHENOTYPICFEATURE$-ectodermal defects-cleft lip/palate) has as distinctive feature ankyloblepharon, while mammary glands and nipples hypoplasia are frequent findings in LMS syndrome and in @DISEASE$ (acro-dermato-ungual-lacrimal-tooth syndrome).	false
+996a3b23d1d0aa956ccc5a7df21eef830e27856b	The association of @DISEASE$ and immunological defects is rare, especially @PHENOTYPICFEATURE$.	false
+8c4a7eaa4dedff777111e61a237ecbe013223f75	Fetal @PHENOTYPICFEATURE$ and real-time ultrasound study:a case of @DISEASE$.	false
+0b705404f37b8a516a71e61b7fbc3e49dfe9a1d5	This hypothesis is based upon a family in which one child had spina bifida and @PHENOTYPICFEATURE$ and another had cardiovascular and other fissural anomalies, similar to @DISEASE$.	false
+5535d42d882e9fe6f0bbfb1b42cc37af8cda2e5b	The children reported here also showed absence or hypoplasia of the spleen, @PHENOTYPICFEATURE$ and other features of the @DISEASE$ (Ivemark 1955), a quite different, usually sporadic, congenital disorder.	false
+8d52190288b24662a46e415c08d1273e6e9f22f9	Asplenia syndrome (@DISEASE$) is a complex disorder composed of asplenia, malpositioning of the visceral organs and @PHENOTYPICFEATURE$.	false
+a65fcb780e3c5b62312390ef186bf189e05daccc	When patients with @DISEASE$ develop signs or symptoms of systemic disease such as @PHENOTYPICFEATURE$, cough, or adenopathy, ENM should be considered.	false
+5a384081b65748c095a3e69c1835bbb540189c55	We present the cases of three siblings (two boys and one girl) with true autosomal recessive @PHENOTYPICFEATURE$ without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in @DISEASE$.	false
+ac9d5cb8d23ec47420e3185611403c4ff21afd21	Skin changes associated with internal malignancies can be classified into five groups: 1) cutaneous metastasis from internal malignancies, 2) non-specific reactional skin changes caused by toxic or allergic processes due to these malignancies, including @PHENOTYPICFEATURE$ cutaneous, urticaria and so on, 3) specific skin changes or diseases closely related to the malignancies, including acanthosis nigricans, dermatomyositis, Leser- Tr?lat syndrome, 4) the syndrome caused by simultaneous effects of oncogenesis both on the skin and on the internal organs, including multiple Bowen's disease, and 5) congenital hereditary syndrome, including @DISEASE$, Torre syndrome.	false
+135a3757ed2fd99f34bad93fa8132c95b583ee32	A paranasal @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+c9785319355352179bbd803f4e321c44b217c51f	A distal tibial @PHENOTYPICFEATURE$ accompanied by @DISEASE$.	false
+82c0568a0d95a2bd11b4da979247326ea31e15de	@DISEASE$: induced by @PHENOTYPICFEATURE$, cured by surgery.	false
+3964ece34bebd1f852a41e3b706bc3186047c10f	Locating @PHENOTYPICFEATURE$ responsible for @DISEASE$ is often challenging.	false
+fea25ae6a917487cc7067fabcdda708e7cf12766	@DISEASE$: strange @PHENOTYPICFEATURE$ in strange places.	false
+b8ff1b4e3f83d29853ed5e5621fc326d4ed5f40b	@DISEASE$ in a patient with an ethmoid sinus @PHENOTYPICFEATURE$.	false
+389d9f6c0c2dedbafcb0dea11853e8220ea6115d	FGF-23 is expressed in most @PHENOTYPICFEATURE$ in @DISEASE$.	false
+45506586a8fdca020dd9d5027a181c4c5dd1b6ec	@DISEASE$: The @PHENOTYPICFEATURE$ may stay hidden!	false
+bf5a76a74991d53176ad852d3c667992361c4d97	@DISEASE$: culprit @PHENOTYPICFEATURE$ detection whole body magnetic resonance imaging.	false
+87f231c0b2097b28ad2c6ee970c4565bb112b24a	Unusual calvarial @PHENOTYPICFEATURE$-@DISEASE$.	false
+f6969f1d219656ed4f3f9d94bde80a89575517cb	Neurofibromatosis type 1 (NF1) is an autosomal-dominant inherited disorder and its prominent feature is the @DISEASE$ and renal involvement includes @PHENOTYPICFEATURE$ and renal artery aneurysms causing renovascular hypertension.	false
+dd186a538e0fed43c4b0847493bd19aab2657542	Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus @DISEASE$, Lisch nodules, @PHENOTYPICFEATURE$, optic glioma and central nervous system tumours.	false
+bd0838b0cbb01f109d9ba6e82b799625be852cf6	A 47-year-old man with caf?-au-lait skin lesions, countless cutaneous neurofibromas, @PHENOTYPICFEATURE$ and scoliosis was admitted for progressive spinal cord compression due to histologically proven @DISEASE$.	false
+8fb37ba14efa4d27ac4f16d9ebcb750845769150	Besides mental retardation and @PHENOTYPICFEATURE$, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the @DISEASE$.	false
+c2f6bae54751b0c8abefbd9b7c47fa0f7a3c6c9f	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as @DISEASE$, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylocostal dysostosis), lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and @PHENOTYPICFEATURE$.	false
+7b94bbde916e99adc75bf4f99ee1e6fa97e728e3	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), @DISEASE$ with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and @PHENOTYPICFEATURE$, developmental delay/mental retardation, and tumor predisposition.	false
+2aff1ce217269715e86e0d000dceccd56b1d447e	Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the @DISEASE$ (OMIM 616682) characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and seizures.	false
+f5cad8f898d71f6d4eb5a0f4f10b40342bf67c4a	Herein, we describe a consanguineous family of four sibs with a novel disorder, which we designate as @DISEASE$, characterised by seizures, @PHENOTYPICFEATURE$, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.	false
+8da476f057abb15b8b59a84fff10c61ace47afee	We hereby present the case of a female infant of Nigerian descent with extrahepatic @PHENOTYPICFEATURE$ and double heterozygocity for sickle cell disease and @DISEASE$.	false
+88653ae2d4a17c8185482dd36cbe04feffde85dd	Parkinsons disease, hypertensive encephalopathy, Guillian @DISEASE$, seasonal @PHENOTYPICFEATURE$ neuropathy, cavernous sinus thrombophlebitis, normal pressure hydrocephalus were rarely the cause of admission.	false
+11b0f3dce3c2a4c8b7f91e2383180cc2825a9575	Muybridge and Dercum photographed patients with tabes dorsalis, hemiparesis, paraparesis, athetotic cerebral palsy, lead @PHENOTYPICFEATURE$, congenital hydrocephalus with diparesis, poliomyelitis, pseudoseizures, @DISEASE$, and other conditions.	false
+22cde227f14efb76d0d1164c329a0a719f00e002	Psychogenic @PHENOTYPICFEATURE$ and @DISEASE$: are they the same patients?	false
+5283555aa321e5abd15ca734ed9e9e89d5f8cfd5	@DISEASE$ (PMD) and psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) are two subtypes of conversion disorder (CD).	false
+2365ccab51c127ce4836120397f4393ad4b62f6c	Personality traits in psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) and @DISEASE$ (PMD): Neuroticism and perfectionism.	false
+2d805f0e20ba7a28b842d87ce58f71ea1f332e8b	Comparison of @DISEASE$ and psychogenic nonepileptic @PHENOTYPICFEATURE$: is phenotype clinically important?	false
+d66e11b4bc9e27e123948c0d2dd55b81bfe3487a	Psychogenic nonepileptic @PHENOTYPICFEATURE$ and @DISEASE$: two sides of the same coin?	false
+239f3507691dd7b0ca30400c64b1206245e0e8c3	Anxiety and depression in @DISEASE$ and non-@PHENOTYPICFEATURE$: a prospective comparative study.	false
+d469dfa2f42c5a3409ce47e771e2235d54e17a3a	Managing non-@PHENOTYPICFEATURE$ and @DISEASE$ in an adolescent girl with preterm brain injury.	false
+2de413270e08bf38d95e974bef1e7634037e9b78	Psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) and @DISEASE$ (PMD) are among the most common psychogenic neurologic disorders.	false
+3aa823467faffd7232670adeafe90bfba52eebc7	The problems involved in treating @DISEASE$ in @PHENOTYPICFEATURE$ persons are pointed out.	false
+08741ed20e6d09a180b97b3a7a5248c6072ae378	We used the Center for Epidemiologic Studies Depression Scale (@DISEASE$-D), a short questionnaire on @PHENOTYPICFEATURE$, and clinical interviews.	false
+8cec994314068fa10422393c91261a66cc7785fa	Clinical manifestations of @DISEASE$ include constitutional symptoms (fever, anorexia, @PHENOTYPICFEATURE$, fatigue and myalgias), signs of systemic inflammation (anemia, thrombocytopenia leukocytosis, high erythrocyte sedimentation rate, elevated levels of C-reactive protein, hypocomplementemia), hypereosinophilia, eosinophiluria, acute onset of diffuse neurologic deficit, amaurosis fugax, acute renal failure, gut ischemia, livedo reticularis and blue-toe syndrome.	false
+144d755b4cb306eb2b09bde84c87b03f82d81b7a	Consecutive RA and OA clinic patients were invited to participate in a self-administered questionnaire study which included the validated multi-domain Pittsburgh Sleep Quality Index (PSQI), visual analogue scales for @PHENOTYPICFEATURE$, fatigue, global functioning, modified Health Assessment Questionnaire (mHAQ), stress scores, the Centre for Epidemiologic Studies-Depression (@DISEASE$-D) score, the 36-item short form (SF-36) quality of life measure, the Rheumatoid Arthritis Disease Activity Index (RADAI), the Epworth Sleepiness Scale (ESS), Berlin score for obstructive sleep apnoea (OSA) risk and the International Restless Legs Syndrome Study Group (IRLSSG) diagnostic criteria.	false
+c6b584af71d92dc0cd2003080c18a4b33b61be25	At the late stage of @PHENOTYPICFEATURE$, the content of @DISEASE$ was lower than normal level.	false
+5ac11d2a31638d8c270ea0f5ab17a7e5e33cf743	Evidence is insufficient that @DISEASE$ has clinically important effects on fibromyalgia, headache, neuromusculoskeletal @PHENOTYPICFEATURE$, degenerative joint pain, depression, or insomnia; low-strength evidence suggests modest benefit in patients with anxiety and depression.	false
+28e1b0c7b6e7fa31efe5537048948081009e3cf1	We quantified depressive symptoms using the Center for Epidemiologic Studies Depression (@DISEASE$-D) scale and performed multivariable analyses on 2 outcome measures: (1) carpal tunnel syndrome (CTS) symptoms (Boston Carpal Tunnel Questionnaire [BCTQ]) and (2) palmar @PHENOTYPICFEATURE$, focusing on preoperative CES-D and BCTQ score, sex, age, alcohol use, diabetes, and severity of nerve conduction abnormalities.	false
+89f3fc9edaae20a5049cc09b5f8ae5ae5a786816	However, 5 days after SELD, she complained of headache, and 9 days after the SELD, cauda equine syndrome (@DISEASE$) symptoms, including motor weakness of both lower extremities (manual muscle testing-left: 3, right: 4), voiding and defecation difficulties, and neuropathic @PHENOTYPICFEATURE$, were manifested.	false
+af6d494e44648e72261a174b088463a802885cd3	@DISEASE$ differs from classic autism by lack of @PHENOTYPICFEATURE$ or delay in expressive language acquisition.	false
+d832ec7332b19f8ceac6d296627c8c9d86059938	26 patients with ataxic @PHENOTYPICFEATURE$ syndrome (@DISEASE$), due to acute ischemic cerebrovascular disease, have been submitted to clinical and electrophysiological evaluation, in order to assess the frequency of sensory disturbances in this condition.	false
+1842b761ae1966c438515ef05c32a782d6b4f8bd	26 patients with @PHENOTYPICFEATURE$ hemiparesis syndrome (@DISEASE$), due to acute ischemic cerebrovascular disease, have been submitted to clinical and electrophysiological evaluation, in order to assess the frequency of sensory disturbances in this condition.	false
+42dcdd90e125744964e246b284ca4a29e5dccfe2	Intermittent benzodiazepines have been recommended in managing breakthrough @PHENOTYPICFEATURE$ in @DISEASE$.	false
+f161279009f72a3635a0e29eeeeb7338c412a8a3	As such, @DISEASE$ represents a slowly progressive lesion and a search for the cause of the initiating @PHENOTYPICFEATURE$ has led to the identification of ion channel mutations.	false
+131ba7536401816150e679427d88a79b300ba2ad	Previous studies of Ammon's horn sclerosis (AHS) suggest that @DISEASE$ is both the result of and the cause of @PHENOTYPICFEATURE$, and support the idea that seizures cause alterations in cell numbers and location.	false
+2f5fcb89c0537e301e05242efa610b364a9082d7	Previous studies of Ammon's horn sclerosis (@DISEASE$) suggest that AHS is both the result of and the cause of seizures, and support the idea that @PHENOTYPICFEATURE$ cause alterations in cell numbers and location.	false
+c1d8278d57f554ad3d880ab7da35bf2b13821e11	Previous studies of Ammon's horn sclerosis (@DISEASE$) suggest that AHS is both the result of and the cause of @PHENOTYPICFEATURE$, and support the idea that seizures cause alterations in cell numbers and location.	false
+5062f397b63a34dd097ed1632c6075386876dd11	Previous studies of Ammon's horn sclerosis (AHS) suggest that @DISEASE$ is both the result of and the cause of seizures, and support the idea that @PHENOTYPICFEATURE$ cause alterations in cell numbers and location.	false
+783bc06a1739d4b16e99c0a71bf1da529d763c61	Significant clinical, genetic, pathologic, and experimental studies of Ammon horn sclerosis (@DISEASE$) suggest that AHS is the result and cause of @PHENOTYPICFEATURE$.	false
+a86e633562a6092ffa2595d2fede45d1cd77ded1	Significant clinical, genetic, pathologic, and experimental studies of Ammon horn sclerosis (AHS) suggest that @DISEASE$ is the result and cause of @PHENOTYPICFEATURE$.	false
+abd5f4085504f85f422768986a918197ade8e44a	These findings imply that in @DISEASE$, glutamate may lead to prolonged depolarization of astrocytes, thereby facilitating the generation or spread of @PHENOTYPICFEATURE$ activity.	false
+cfc791cae4b136003388901e67212f07562adc59	These features of @PHENOTYPICFEATURE$, cognitive degeneration, and hepatopathy represent the "classic triad" of @DISEASE$.	false
+aede139f49b2ee67dc67cc26331062a26d2ae532	Even though Ammon's horn sclerosis (@DISEASE$) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from seizures postoperatively, we report here that both synaptic and intrinsic alterations enhance @PHENOTYPICFEATURE$ susceptibility of the subiculum also in the absence of classical AHS.	false
+7068f94e86895cec96907813da103e74e0807bdb	Even though Ammon's horn sclerosis (@DISEASE$) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from @PHENOTYPICFEATURE$ postoperatively, we report here that both synaptic and intrinsic alterations enhance seizure susceptibility of the subiculum also in the absence of classical AHS.	false
+aa59fcc0a99bfb336c0a6ccb76e8c033411f491f	Even though Ammon's horn sclerosis (AHS) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from seizures postoperatively, we report here that both synaptic and intrinsic alterations enhance @PHENOTYPICFEATURE$ susceptibility of the subiculum also in the absence of classical @DISEASE$.	false
+9c75269c54d10645953975f0d6c38d39fa32f7d0	Even though Ammon's horn sclerosis (AHS) in resected hippocampi from patients suffering from temporal lobe epilepsy has important prognostic implications for freedom from @PHENOTYPICFEATURE$ postoperatively, we report here that both synaptic and intrinsic alterations enhance seizure susceptibility of the subiculum also in the absence of classical @DISEASE$.	false
+c5561a77567d163c62f70d8d552a857b51e837aa	In hippocampal specimens from TLE patients with @DISEASE$ and seizure onset before the age of 4 years, significantly higher levels of CR-ir neurons in CA1-ML (P = 0.05) and DG-ML (P < 0.05) were encountered than in AHS patients without precipitating @PHENOTYPICFEATURE$ or with an uneventful early medical history.	false
+fe81a7b7618a3e5e88d047fb6a7ccc9ad67cab07	In hippocampal specimens from TLE patients with AHS and seizure onset before the age of 4 years, significantly higher levels of CR-ir neurons in CA1-ML (P = 0.05) and DG-ML (P < 0.05) were encountered than in @DISEASE$ patients without precipitating @PHENOTYPICFEATURE$ or with an uneventful early medical history.	false
+012dac8fbf79c0e116662a07f8bf2d4ea2bd8079	In hippocampal specimens from TLE patients with @DISEASE$ and @PHENOTYPICFEATURE$ onset before the age of 4 years, significantly higher levels of CR-ir neurons in CA1-ML (P = 0.05) and DG-ML (P < 0.05) were encountered than in AHS patients without precipitating seizures or with an uneventful early medical history.	false
+6f04b160d57fa37105c26de1ff60ef5c7a1b75c0	In hippocampal specimens from TLE patients with AHS and @PHENOTYPICFEATURE$ onset before the age of 4 years, significantly higher levels of CR-ir neurons in CA1-ML (P = 0.05) and DG-ML (P < 0.05) were encountered than in @DISEASE$ patients without precipitating seizures or with an uneventful early medical history.	false
+006157e94204dc953909d4d599dc82b94cb3da5f	@DISEASE$ is the most severe, early-onset, invariably fatal syndrome within a disease spectrum, which also include other epileptogenic entities, all due to POLG mutations and including Spino-@PHENOTYPICFEATURE$ and Epilepsy (SCAE).	false
+0a500ef672c8a8055f04f625837cba6f04e92875	But, @DISEASE$ tumors also cause communicating-type @PHENOTYPICFEATURE$.	false
+27a9f146c2084cc4b6accc2b18bdb7021f12c02a	All the patients with large tumours showed significant severity of hearing loss whereas only three out of nine patients with @DISEASE$ tumours showed severe to profound @PHENOTYPICFEATURE$ in the affected ear.	false
+ef18a85f1844611d01f3bcb2909c1066cdc6a699	[Stapes surgery in otosclerosis and @DISEASE$ @PHENOTYPICFEATURE$].	false
+5dbf41ebb53cb3d35143f0caaf49f56cbbd444be	The recent recognition of @DISEASE$ fiber neuropathy in a large subgroup of fibromyalgia patients reinforces the @PHENOTYPICFEATURE$-neuropathic hypothesis and validates fibromyalgia pain.	false
+668af4ef825b83de7315bdb709a2c6ea10e5bb81	The weight loss was attributed to severe steatorrhea due, in part, to intraluminal bile salt deficiency, @DISEASE$ bowel mucosal disease, and bacterial @PHENOTYPICFEATURE$.	false
+2d7a879c87cd70a03f05126585f2dd61cfe6e7b2	A young age, @DISEASE$ polyps, and short duration of @PHENOTYPICFEATURE$ may increase the possibility of benefiting from VT.	false
+9447d3c35909f177ea9fca49ab07b04fb0f88bdb	All patients, including those with @DISEASE$ tumors, complained of hearing loss and/or @PHENOTYPICFEATURE$.	false
+59919f4b368e68518758f380e9d4aa2af88a452a	Modern imaging techniques allow early detection of @DISEASE$ vestibular schwannomas (VSs) with minimal or no @PHENOTYPICFEATURE$.	false
+cc0a9e5d7cfc96e90c17bd8b828ad12d74490eec	Similar associations were seen between @PHENOTYPICFEATURE$ and physical inactivity and adenomas of 1 cm or more, but no association was observed for @DISEASE$ adenomas.	false
+c605596bb6af8a8875b6048cb12c370bfb1b9d68	Similar to the situation in humans, @DISEASE$ animal @PHENOTYPICFEATURE$ may be associated with changes in endocrine, respiratory, and cardiovascular function.	false
+8db542d28c6ffb30dcf258fcbd90cac55cdeaccb	Mice treated with @DISEASE$ and exposed to B(a)P and NTCU had statistically significant lower @PHENOTYPICFEATURE$ multiplicities than mice treated with carcinogens only.	false
+31137c22960a885ba55e19f0e5e6779438dc23d5	@PHENOTYPICFEATURE$ are a key feature of @DISEASE$ (AD).	false
+5da91d39d268c18252b39cc8428cc72520a55d13	A potential mechanism for early @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c6f7117095dd92d01b9f624ca7a4e15476581e45	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, @PHENOTYPICFEATURE$, speech/language disorder, learning disability, and @DISEASE$/ADHD.	false
+7ec047f6e7876020919d30197d1493eed1e6caec	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, intellectual disability, speech/language disorder, learning @PHENOTYPICFEATURE$, and @DISEASE$/ADHD.	false
+4714e607ad3a0c3dcdecf81c5386006b7db0262c	Distribution of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e6d25400ba31db39ce87a5061d7b074b1881b3c7	Many researchers have focused on studies based on the relatively distinctive etiology of familial @DISEASE$ due to the absence of risk factors in the pathogenesis of @PHENOTYPICFEATURE$ Alzheimer's disease.	false
+320c4831355a69a69fb45d9270eab58c22a7092d	Many researchers have focused on studies based on the relatively distinctive etiology of familial Alzheimer's disease due to the absence of risk factors in the pathogenesis of @PHENOTYPICFEATURE$ @DISEASE$.	false
+007f737f030377b3aa79a0f6ad03ab658e4d19dd	The patients had been diagnosed with several neurologic diseases, including cerebrovascular disease, epilepsy, psychogenic nonepileptic seizures, @PHENOTYPICFEATURE$, @DISEASE$, and transient global amnesia.	false
+61b101969751ee449585d81587455a4e4de18461	The patients had been diagnosed with several neurologic diseases, including cerebrovascular disease, epilepsy, psychogenic nonepileptic @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and transient global amnesia.	false
+1561f9a2fa1945e6f239eb24b654c2cdc74427dc	Ageing, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9c35423cf420320d9f834dd356e09559cf5330f9	Progressive @PHENOTYPICFEATURE$ is among the primary components of cognitive decline in @DISEASE$ (AD).	false
+5da91d39d268c18252b39cc8428cc72520a55d13	A potential mechanism for early @PHENOTYPICFEATURE$ in @DISEASE$.	false
+66236194a080fc1bbd1ac520856f83728c653c0e	A subset of patients with @DISEASE$ (AD) present with early and prominent @PHENOTYPICFEATURE$ (aphasic AD).	false
+5168855d177b5e8f4fbb3bf53562829bd83c981b	GHD and @DISEASE$ are also associated with increased @PHENOTYPICFEATURE$, poor quality of life, and a greater likelihood of depression.	false
+ad3cb52e45833069bd6acb4277f08ed631e89e00	This report describes an infant with @DISEASE$ (CML) referred to Ali-bin-Abitaleb Hospital, Zahedan, eastern Iran in 2013 who presented with @PHENOTYPICFEATURE$ and bulging fontanel.	false
+fb66976f75f27367a021a7668c77c1cc81c9076b	Other causes included Behcet's disease, sytemic lupus @PHENOTYPICFEATURE$, drugs, pregnancy, @DISEASE$, leprosy, Reiter's syndrome and inflammatory bowel disease.	false
+a7b9ca5abf49adcd2aea57fa5c77ac38221d2397	[@PHENOTYPICFEATURE$ disclosing @DISEASE$].	false
+9df96a4a2822e7426c8c6280391ef3699ce2155a	We report a 17-year-old Caucasian patient affected by @DISEASE$ in therapy with imatinib mesylate who developed @PHENOTYPICFEATURE$ vitiligo-like patches and generalized lightening of the skin.	false
+673991ca8760e631ee52a4d9a0b4df312b79bd21	Progressive @PHENOTYPICFEATURE$ and atrophic eruption in a patient with @DISEASE$.	false
+b4cfb6dde78ae895088a5c5b42659174e14c9b01	@PHENOTYPICFEATURE$ associated with imatinib therapy for @DISEASE$.	false
+45d45be473ca0c008ef184d297c776ff7cd4ba39	Neutrophil granule subsets and dynamics were studied in 4 patients with polycythemia vera/@PHENOTYPICFEATURE$ and 2 patients with @DISEASE$.	false
+131a00ee42dddb8d2d1adb2f8e8f56c04c49d04d	Bilateral heel @PHENOTYPICFEATURE$ developed in a 50-year-old male in the chronic phase of @DISEASE$ who had been receiving hydroxyurea (HU) therapy for 3 years.	false
+83816977ca87010897baf0a415d30ff87dcea59b	In this case series, the authors describe unique clinical findings of skin @PHENOTYPICFEATURE$ in six patients with @DISEASE$ who were treated with imatinib mesylate.	false
+20aa50f14622ec732842bbff19db3bb4ad16446e	Thus, we assessed the frequency and impact of @PHENOTYPICFEATURE$ in patients with @DISEASE$ (CML) taking IM in our institution in Riyadh.	false
+4af29eecfc39e3a5f3b0c7c8a54153957c40459c	Here, we present a Turkish patient who, in addition to the typical neurological and visceral characteristics of @DISEASE$, also demonstrates defects in the posterior limb of internal capsule by MRI, @PHENOTYPICFEATURE$ and clinodactyly of the fifth fingers.	false
+72ab5212168a1b8c8d4c9e555d19f2755dcda96e	Some C. elegans TRPM, TRPP, and TRPML members exhibit cellular functions similar to their vertebrate homologues and have provided insights into human diseases, including polycystic kidney disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0bf9b32af2319e8fe8384ef754049d1d6594e339	We included RCTs of ACDF versus ACDA in adult patients with single-level cervical spondylosis reporting at least one of the following outcomes: functionality, neurological success, neck pain, arm pain, quality of life, surgery for adjacent level degeneration (@DISEASE$), reoperation and @PHENOTYPICFEATURE$/dysphagia.	false
+acd6d4ff87a733b9afaa3f3d3f33d5a2d6a56c52	Mutations in L1CAM are responsible for X-linked @PHENOTYPICFEATURE$, whereas those in the @DISEASE$ gene (ABCD1) cause adrenoleukodystrophy.	false
+6af8010517297b77973d5525ed9e2f5d97221015	Its physiopathology is explained by a basic defect in osteoclast precursor cells, with a radiographic image of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8f4a31f28dcf75ce582dc78ebc43360558393272	NASH was characterized with over-nutrition and visceral fat type @PHENOTYPICFEATURE$ as compared with @DISEASE$.	false
+a77d781dda6cd09fc95781e6ab658e2ba7b59e09	To elucidate gender differences and the influence of @PHENOTYPICFEATURE$ and/or metabolic syndrome-related fatty liver on alcoholic liver disease (@DISEASE$), we analyzed characteristic features of ALD.	false
+05f8e41f6aed56149af16cf5ba6f93a33cadcfa8	To elucidate gender differences and the influence of @PHENOTYPICFEATURE$ and/or metabolic syndrome-related fatty liver on alcoholic liver disease (ALD), we analyzed characteristic features of @DISEASE$.	false
+b6e8629b5457c24f9041e966ab17cd9056ec4353	This review highlights vital events in @DISEASE$ such as BT, the importance of Toll-like receptor (TLR) signaling, intestinal bacterial @PHENOTYPICFEATURE$ (IBO), and changes in the intestinal microbiome.	false
+abcd0f727e894a75109765375114ef73bd82e0e9	Hence, @DISEASE$ patients may be at increased risks of @PHENOTYPICFEATURE$- and inflammation-related diseases.	false
+71b4e055c9b9d5f7c3131844f67f153f97c2d1f7	ACDA is associated with non-statistically significant higher improvement in the Neck Disability Index Score and lower incidence of @DISEASE$ requiring surgery, reoperation, and dysphagia/@PHENOTYPICFEATURE$.	false
+2296d8b55be7a071a450cb9dcd60913e1503ae29	Although we demonstrated that circulating ALD was extracted through the failing heart and that transcardiac extraction of @DISEASE$ correlated with LV end-diastolic volume index (LVEDVI) in patients with @PHENOTYPICFEATURE$, the existence and increase of ALD synthase in the hearts of infarct rats were reported, suggesting cardiac production of ALD in patients with AMI.	false
+14295b28f0c73dcb57fb24ba8d4e1044c7cde891	Although we demonstrated that circulating ALD was extracted through the failing heart and that transcardiac extraction of ALD correlated with LV end-diastolic volume index (LVEDVI) in patients with @PHENOTYPICFEATURE$, the existence and increase of @DISEASE$ synthase in the hearts of infarct rats were reported, suggesting cardiac production of ALD in patients with AMI.	false
+3fbff0a4b28de271bbabc74b05aa3882fb851c25	Although we demonstrated that circulating @DISEASE$ was extracted through the failing heart and that transcardiac extraction of ALD correlated with LV end-diastolic volume index (LVEDVI) in patients with @PHENOTYPICFEATURE$, the existence and increase of ALD synthase in the hearts of infarct rats were reported, suggesting cardiac production of ALD in patients with AMI.	false
+7ce844999e78adf61b6222aafd57cad69a162fad	Although we demonstrated that circulating ALD was extracted through the failing heart and that transcardiac extraction of ALD correlated with LV end-diastolic volume index (LVEDVI) in patients with @PHENOTYPICFEATURE$, the existence and increase of ALD synthase in the hearts of infarct rats were reported, suggesting cardiac production of @DISEASE$ in patients with AMI.	false
+342f3c9f8b1f55a5eac58864e437361904edb6d8	No severe @PHENOTYPICFEATURE$ was observed, but the duration and dosage of @DISEASE$ prednisolone could be reduced further, since the patients with FSMPGN seemed to have an excellent prognosis.	false
+eb7010db4d81e86543a98dd69f84aa6f3dc24a09	[Biological foundations of high @DISEASE$ radiation @PHENOTYPICFEATURE$ therapy].	false
+161feba588aeeca6b31f447ea791626a43501e70	6.0) were recorded in two out of eight @DISEASE$ @PHENOTYPICFEATURE$ by ZK-150471.	false
+fe6b1aa2bf3a22f07e75c93123c2fce3e55eacee	For example, the identification of low @DISEASE$ @PHENOTYPICFEATURE$ radioresistance could be used as a marker of patient eligibility for carbon therapy.	false
+b99d2f61b095d191fa2a6e8c8560cfa0e0d14c51	Interestingly, the expression of @DISEASE$-7 @PHENOTYPICFEATURE$ suppressor miRNA was upregulated in Snail knockdown cells.	false
+30e715a303bf9eabfa960338185bbfd9a9ab2e93	RIB plus @DISEASE$ versus PBO plus LET is associated with earlier and more durable @PHENOTYPICFEATURE$ response, greater degree of tumor shrinkage and pain reduction, and PFS benefit irrespective of TFI.	false
+2823a6545c088eb9914d234490bbc840f5b4e76a	RIB plus @DISEASE$ versus PBO plus LET is associated with earlier and more durable tumor response, greater degree of @PHENOTYPICFEATURE$ shrinkage and pain reduction, and PFS benefit irrespective of TFI.	false
+d1445ee0007a61a892fa38b13acc9d7145a77e41	Amino-acid composition of ascitic fluid and blood plasma from mice bearing Ehrlich-@DISEASE$ @PHENOTYPICFEATURE$.	false
+deebb8f7abb1ed0c96f7eb2b3930d09e72701bab	Cytochemical fractionation of the @DISEASE$-Ehrlich ascites @PHENOTYPICFEATURE$.	false
+8a1e27f64a358ca2e89c9678f57a878ddd2bc01d	However, the bands of the markerchromosomes A and B coincide in NK/Ly and in the Ehrlich--@DISEASE$ @PHENOTYPICFEATURE$.	false
+911dbb0f89315b662cae3f8a74808cb9e8618438	These effects were accompanied by a coordinated increase in levels of growth-promoting miRNA and reduced expression of @DISEASE$-7 @PHENOTYPICFEATURE$ suppressor miRNA.	false
+685f734afc499924ced81ceabfa9b4afcbab3900	This corroborates the opinion of the replacement of NK/Ly by the Ehrlice-@DISEASE$ @PHENOTYPICFEATURE$.	false
+0e4f2e7bc6b1cbe36ec1115c0b7960925c7ad2fb	@PHENOTYPICFEATURE$ @DISEASE$ in patients with anti-CASPR2 antibody-associated encephalitis.	false
+e97579ab762d2f480f6ec2f89a7dc8cb69ea7be7	Dysfunction of potassium (K(+)) channels has been associated with the pathophysiology of a number of neurological, as well as peripheral, disorders (e.g., @DISEASE$, epilepsy, neuromyotonia, Parkinson's disease, @PHENOTYPICFEATURE$, long QT syndrome).	false
+6221a980851a95af68e34b919e63963231d9202d	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, @DISEASE$, hemiplegic migraine, @PHENOTYPICFEATURE$, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+e698d227b10405c23b569d64b308cff3e539304d	PHARMACOLOGICAL TREATMENT: Depending on the pathophysiology of different types of nystagmus, several drugs were effective in clinical application (off-label use): (i) gabapentin (non-selective GABAergic and anti-glutamatergic effect): up to 2400?mg/d in infantile nystagmus, acquired pendular nystagmus and oculopalatal tremor, (ii) nemantine (anti-glutamatergic effect): dosage up to 40?mg/d in infantile nystagmus, also in acquired pendular nystagmus and oculopalatal tremor, (iii) baclofen (GABA-B-receptor agonist): 3???5-10?mg/d in periodic alternating nystagmus and in upbeat nystagmus, (iv) 4-aminopyridine (non-selective blocker of voltage-gated potassium channels): 3???5?mg/d or 1-2???10?mg Fampridin in downbeat nystagmus and upbeat nystagmus, (v) acetazolamide (carbonic anhydrase inhibitor): in @DISEASE$ type 2. OPTICAL DEVICES: (i) Contact lenses are used in infantile nystagmus in order to overcome negative effects of eye glasses in abnormal head posture, lateral gaze, and higher refractive errors, (ii) spectacle prisms are useful to induce an artificial exophoria (base-out prisms) or to shift an excentric null zone (base in direction of head posture) of infantile nystagmus with @PHENOTYPICFEATURE$ posture, (iii) low vision aids may be necessary and should be prescribed according to magnification requirements.	false
+8dbab586255fd10648671017d78033cef51eb2d6	An autosomal dominant disorder with @DISEASE$, vertigo, and @PHENOTYPICFEATURE$.	false
+dca1c923fcd7157ace837096e18cc83292f0d726	What do epilepsy, migraine headache, @PHENOTYPICFEATURE$, @DISEASE$, periodic paralysis, malignant hyperthermia, and generalized myotonia have in common?	false
+7fed9890f679b7318ee64dc14a70795c1efaae75	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, @DISEASE$, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+0c587ee545122dec7cca880f5018acd8b5d77f2f	Their role in @PHENOTYPICFEATURE$, multiple sclerosis, @DISEASE$, LQT syndrome and diabetes has been proven.	false
+f6223d8f53b622ac820438f6e72d939245b64a7d	Retinal folds are the most common ocular finding described to date, although retinal @PHENOTYPICFEATURE$, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. @DISEASE$ is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18.	false
+e2960665c80dabf1d1649c8107942cb1892741ad	Comparing the case reports in the literature with our case, we postulate that chronic uncal herniation is a complication of shunting of a posterior fossa fluid cavity in children, many of them with @DISEASE$ and/or other @PHENOTYPICFEATURE$ formations.	false
+bb4e16a400cdf4c82f76e7bd5a9a55466d4d8891	All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+aa7e1bc2da2fa0ad7418fc8663f309f3b9f3377d	(1) Among the 40 cases, 15 (38%, 15/40) were diagnosed isolated ACC, while 25 (63%, 25/40) were non-isolated ACC.In the non-isolated ACC cases, 18 (72%) had central nervous system abnormalities, including cerebellar vermis hypoplasia,@DISEASE$, @PHENOTYPICFEATURE$, holoprosencephaly, etc.Extra-CNS abnormalities were identified in 16 cases, including 5 cardiac abnormalities, 3 facial abnormalities, 2 congenital anomalies of urinary system, 1 limb skeletal abnormality and 5 other congenital anomalies.(2)	false
+4cbab43f2e4789e616c3eb48d72a928c4eca5b8b	We report the first case to our knowledge of a 1-week-old female infant with familial inherited @DISEASE$ associated with bilateral congenital onset @PHENOTYPICFEATURE$, posterior embryotoxon and iris hypoplasia suggestive of ocular Axenfeld-Rieger anomaly.	false
+7b5e159eed8887049fedc2476e630e0b1c93b89f	A new syndrome includes @DISEASE$ and @PHENOTYPICFEATURE$.	false
+dcedf2aa9d7150aa9c7de5f55a6b0cc3bbd471c7	Peters plus syndrome is a multiple malformation syndrome characterized by a combination of @DISEASE$ of the eye and other extraocular defects, including @PHENOTYPICFEATURE$, a thin upper lip, hypoplastic columella, and a round face.	false
+a03b4b60d219905c28471cfbbddfca13626a5935	Peters'-Plus syndrome is characterized by @DISEASE$, a typical face, cleft lip and palate, @PHENOTYPICFEATURE$, and developmental retardation.	false
+05f2f1843fbcb5ad2fcbe120fcaf6e4c231e9ca0	The use of drugs selectively targeting the skeletal muscle BK channels is a promising strategy in the treatment of familial disorders affecting muscular skeletal apparatus including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0ea3aa2d24822e435833d1470650f9ce5d662458	DHTR/@DISEASE$ occurs in pediatric SCD patients, typically 1 week posttransfusion, and presents with back, leg, or @PHENOTYPICFEATURE$; fever; and hemoglobinuria that may mimic pain crisis.	false
+7f03a1c8efbf82d8ad78e42a8cb422027b4700aa	The VACTERL-@DISEASE$ is a rare combination of vertebral anomalies, @PHENOTYPICFEATURE$, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus.	false
+a089c277a03c32a141271a94730473daf5b353ff	It is reported that a probability of developing @PHENOTYPICFEATURE$ in cases of @DISEASE$ is about 80-90%.	false
+8d9f12a7ef8defd603c6451b012166c4798e374e	A patient with a right thalamic @DISEASE$ developed @PHENOTYPICFEATURE$ characterized by circling behavior, speech arrest, and secondarily generalized seizures.	false
+7e63fb5b09743fa77656df18e358d0920fa731c2	The occurrence rate of @PHENOTYPICFEATURE$ in @DISEASE$ is much higher than that in other brain tumors.	false
+c47c513866247f31e8bbc13c51e14ac44470fdfb	Using PubMed, we identified surgical series reporting @PHENOTYPICFEATURE$ freedom rates for grade II astrocytoma, oligoastrocytoma, and @DISEASE$.	false
+0a44930b518e584d48f4468ccb2d9b16f0356f85	Do @PHENOTYPICFEATURE$ predict outcome in patients with @DISEASE$?	false
+77c06111f315b7e3565e9be520b39cc82e3d6564	We report two cases of @DISEASE$-like meningioma revealed by symptoms of increased intracranial pressure, progressive hemiparesia and partial @PHENOTYPICFEATURE$.	false
+f63420301be9e39f18a3e18478b9bba1df9dede2	Clinico-pathologic report of a patient with an @DISEASE$ who ran a 22-year course characterized by focal @PHENOTYPICFEATURE$ of the Jaksonian type.	false
+358155c0408858519e1f9aa2f4cc187bf0f0b774	Moreover, the girl had developed @PHENOTYPICFEATURE$ from the age of 10 years, and a large @DISEASE$ involving the left frontal lobe was found.	false
+f01b375f7c5dd4df67b10d41a85a21b1077500f0	Many patients with an @DISEASE$ (OD) experience @PHENOTYPICFEATURE$, some of which become refractory to anti-epileptic drugs (AEDs).	false
+f66165711a1da7f7244cb58fbdc2d3f05161c296	Temozolomide may result in reduced @PHENOTYPICFEATURE$ frequency, and permit discontinuation of AEDs in patients with WHO II @DISEASE$.	false
+9a718a5f88a8ff39d3b61c7d3be1ffc32bf4f292	These results further support the hypothesis that dopaminergic dysfunction plays an important role in the pathogenesis of AIDS dementia complex (@DISEASE$) and suggest that specific motor and @PHENOTYPICFEATURE$ may be related to depressed dopaminergic activity.	false
+863ac001c5d5c9d9121d757cda5814e069172573	Results provide support for @DISEASE$ as a stress-reducing environment for individuals with mild to moderate @PHENOTYPICFEATURE$.	false
+fcdb136314b94b9f45171ff524851afd99b7a400	The mAb 3D1-MMAE antibody-drug conjugate (@DISEASE$) (a) kills MUC1-C-positive cells in vitro, (b) is nontoxic in MUC1-transgenic (MUC1.Tg) mice, and (c) is active against human HCC827 @PHENOTYPICFEATURE$ xenografts.	false
+0fc5699ac3a76f208e1956f2f02bf8bacee6c345	Childhood @PHENOTYPICFEATURE$ (RR = 2.7; 95% Cl = 1.1, 6.7) and childhood exposure to coal burning (RR = 2.3; 95% Cl = 1.0, 5.5) were additional risk factors for @DISEASE$.	false
+f5ddd10cc2632a6643f92279f305400cf79f545c	We recruited 44 patients with SVCI and 44 patients with @DISEASE$ (amnestic mild @PHENOTYPICFEATURE$ or Alzheimer's disease) with absent or minimal white matter hyperintensities, all with PiB-positive PET scans [PiB+].	false
+81b28e618ca6069935ae251422f754be1db9ed49	@PHENOTYPICFEATURE$ and white matter integrity were determined using diffusion tensor imaging (DTI) to quantify the apparent diffusion coefficient (@DISEASE$) and the fractional anisotropy (FA).	false
+9309a0787d0352e7c378f51774dd4b548d18372a	The AIDS dementia complex (@DISEASE$, also referred to as HIV-associated @PHENOTYPICFEATURE$) is a common disorder among HIV-infected patients associated with both inflammatory and neurodegenerative processes.	false
+df14f6aa6b24359d4783afce4d09d83c5f99a0bf	The magnitude of the PCr and NTP deficits in @DISEASE$ was not explicable by focal abnormalities or @PHENOTYPICFEATURE$ quantified in images of the same regions.	false
+f50dbc57a1c294d41a2952c699603ec8e38e60cb	Histogram parameters of whole lesions for distributed diffusion coefficient (DDC), @PHENOTYPICFEATURE$ index (?), and @DISEASE$ were calculated by two radiologists and compared among benign lesions, ductal carcinoma in situ (DCIS), and invasive carcinoma confirmed by pathology.	false
+d58bcee1c553467fb55c1ef83b693e01ef8cfc09	Several groups have proposed the use of immunohistochemistry (IHC) to recategorize LCC as @DISEASE$ or squamous cell carcinoma; however, it remains unclear if strictly defined LCCs are a clinicopathologically distinct @PHENOTYPICFEATURE$ subset.	false
+0f4e3dc1d88049dd4068321a571ec8d108ddc915	In patients presenting with an FSHD-like clinical phenotype with a negative molecular testing for @DISEASE$, consider (1) detailed genetic testing including D4Z4 contraction of permissive hybrid D4Z4 repeat arrays, p13E-11 probe deletions, and D4Z4 hypomethylation in the absence of repeat contraction as observed in FSHD2; (2) mutations in CAPN3 even in the absence of protein deficiency on western blot analysis; and (3) VCP mutations even in the absence of @PHENOTYPICFEATURE$, Paget disease and typical inclusion in muscle biopsy.	false
+9e04bc2c3f0f04fbdf0f835c734b4785485aba54	This unique presentation suggests that @DISEASE$ should be considered in the differential diagnosis of children with @PHENOTYPICFEATURE$, seizures, and hearing loss.	false
+d631baf314a1ea1cf7fc6ece559b7e9a9f8fb204	Myosin malfunction has been implicated a variety of disorders including @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy, Usher syndrome, @DISEASE$ and cancer.	false
+828224267901d3c8ca8db2c0c87fe7bce73d967a	RNF213 p.R4810K Variant and Intracranial @PHENOTYPICFEATURE$ or Occlusion in Relatives of Patients with @DISEASE$.	false
+897898e454e5ed3d106127936a0f416817bcb640	Comments on "RNF213 p.R4810k Variant and Intracranial @PHENOTYPICFEATURE$ or Occlusion in Relatives of Patients with @DISEASE$".	false
+60455f2830bc14599153c43dd55864359923b6d7	@PHENOTYPICFEATURE$ is a frequent complication of @DISEASE$ (MMD) in adults.	false
+3a3d6c2ca4d5a8a89c3cab1d33097e40cf1aab0b	We report a rare case of distal AChA aneurysm associated with @DISEASE$ in a 48-year-old man who presented with @PHENOTYPICFEATURE$ and severe headache.	false
+4396fc5c6280952d639c321fd78a995421594b68	The patients with cognitive impairment have difficulty in proving their status because the standard neuroradiological and neuropsychological methods to define @PHENOTYPICFEATURE$ with @DISEASE$ are not determined.	false
+3c6adcbce1ad5ef3c01c16352f79108f1a292f02	The patients with @PHENOTYPICFEATURE$ have difficulty in proving their status because the standard neuroradiological and neuropsychological methods to define cognitive impairment with @DISEASE$ are not determined.	false
+8034f28e20d9d23fcfffb165b0f5a3feb36cbdfe	Their causes include hypertension, @DISEASE$, infection, @PHENOTYPICFEATURE$, and flow-related saccular aneurysms.	false
+db84c975e44b564756d3d68a39d6a69c0731907b	The paper presents a case of @DISEASE$, with first clinical sign subarachnoid haemorrhage in a 19-year old woman with @PHENOTYPICFEATURE$.	false
+e293ab935e42cf2b37df78a1f4c7b7ca7f206816	Unusual radiographic abnormalities (platyspondyly with unique shape of the vertebral bodies, shortening of the long tubular bones without signs of rickets or @DISEASE$, marked shortening of well-ossified short tubular bones, schneckenbecken-like pelvis with tri-radiate acetabulum, pseudoepiphysis of the right ulna, unusual shape of calcaneus and periarticular calcifications) allow designation of this disorder as a new form of neonatal @PHENOTYPICFEATURE$.	false
+6c6f088d74dbdae8c0d8f2e785a2d1fb6c46f943	These patients have the main clinical characteristics of IMAGe association: IUGR, facial dysmorphy (frontal bossing, broad nasal bridge, low-set ears), @PHENOTYPICFEATURE$ due to @DISEASE$, and adrenal insufficiency.	false
+017025cc23c5f7173a6bc2e06e6486a795df523e	@DISEASE$ with narrow thorax, proximal @PHENOTYPICFEATURE$, and short fingers are typical of Sensenbrenner syndrome and ATD-JS.	false
+75df51169b0183c3b5f5f53b1cdca7fa2911e0c9	In addition to the facial phenotypic features and @PHENOTYPICFEATURE$, the autopsy revealed the characteristic microscopic pulmonary findings of @DISEASE$.	false
+5af15895f136fc79154b056c6fb07ca126fbc9f1	Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, @PHENOTYPICFEATURE$, diaphragmatic hernia, @DISEASE$, lung hypoplasia, and mental retardation.	false
+cfcb997b74ebec8cbfa5d84003eeab1cb9247fc4	Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital @PHENOTYPICFEATURE$, @DISEASE$, and various other abnormalities.	false
+85108893a3318998254bbc5c90cf3c2821145b65	Gordon Holmes syndrome (GHS) is a distinct phenotype of @DISEASE$, characterized by ataxia, dementia, reproductive defects and @PHENOTYPICFEATURE$; it has been recently found to be associated with RNF216 mutation.	false
+732f719c6bbe529362771d3f8fb6d7e2e8bc6af7	-related @DISEASE$, congenital cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+050e46ec84c084260569ceea1dda3fe5e07ed21c	Hypouricemia occurred in three patients with @DISEASE$ and 18 patients with AIDS and was associated with @PHENOTYPICFEATURE$ in all 12 hypouricemic and 14 of 28 nonhypouricemic patients who had cranial computed tomography (CT) scans.	false
+ed5007d3df201cd8d2540fbc92b7128c6ebaebe2	All rats receiving the 100 mg/kg/day dose of HO-IDPN (and the rat receiving 120 mg/kg/day) developed the @DISEASE$ syndrome and signs of @PHENOTYPICFEATURE$ within 4 days after the last dose.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+0d63105c779d046ebffcb678523b620064596b20	@DISEASE$ is a rare sex chromosome aneuploidy syndrome characterized by @PHENOTYPICFEATURE$ speech impairment, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities.	false
+2d9b0e217d85b3a64383fba8f48a323738da4edd	[@PHENOTYPICFEATURE$ as a sign for the diagnosis in @DISEASE$].	false
+4cca55726b75856b933dff505a1353d28b3f7c37	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including @DISEASE$, Gaucher's disease, abetalipoproteinemia and Wilson's disease.	false
+17fbe6e0b79d3ccdaad15160558d70fce42e3f1a	We present the case of a 4-year-old girl with the cardinal features of @DISEASE$: characteristic @PHENOTYPICFEATURE$, postnatal growth retardation, delay of bone age, slender long bones, optic atrophy, and Pelger-Hu?t anomaly.	false
+9312dcaba5add8b563f138ed1da94f32ea4cc018	@DISEASE$ (Short stature with Optic nerve atrophy and Pelger?Hu?t anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, @PHENOTYPICFEATURE$, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger?Hu?t anomaly of neutrophils.	false
+495587d147fbcd8d130b5cee672c4c32d82c876f	@DISEASE$ is associated with other anomalies, i. e. @PHENOTYPICFEATURE$, scoliosis, visceral malformations or anomalies of the overlying skin.	false
+d77973f3605813fe19e4fd20145d8156e884d8c9	We report a case of Wilms tumor in the lumbosacral region that was associated with @DISEASE$ and occult @PHENOTYPICFEATURE$.	false
+8db4ed3b0b7904a52766c4dd50cae5bb25c18ba6	Pathogenesis of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5444d1224896603215ac017a7958bb8f09ed21fa	@DISEASE$ and @PHENOTYPICFEATURE$ can be caused by the intraspinal grafting of somites in early avian embryos.	false
+53281c3733f2b80f44de1a511ffa3a6624896cb8	Three cases of @PHENOTYPICFEATURE$ (SB) associated with @DISEASE$ (DM) are described and possible differences in pathogenesis are discussed.	false
+988a142359353b9bed82651bfabae934e68b7c1e	At term, fetuses showed @PHENOTYPICFEATURE$, including myeloschisis, myelocele, and diplomyelia (@DISEASE$) with abnormal distribution of ganglionic cells.	false
+c784a204d15ec02384d55d83807a9d31782636fa	Out of the 113 patients a total of 181 eyes were affected: 68 patients (60%) presented bilateral @DISEASE$ patients (40%) monolateral @PHENOTYPICFEATURE$.	false
+16fbbb57140164a7d3cff8ac287e010726f2ab5f	Full binocular vision was obtained in children with good visual acuity (0.5 and more), with appropriate alignment of the eyes: 13.1% in unilateral congenital @DISEASE$.4% in traumatic @PHENOTYPICFEATURE$ and 55% in congenital bilateral cataract.	false
+48f4ab9c6ddd336f63a765892638cd76d7dcb4d5	Full binocular vision was obtained in children with good visual acuity (0.5 and more), with appropriate alignment of the eyes: 13.1% in unilateral congenital @DISEASE$.4% in traumatic cataract and 55% in congenital bilateral @PHENOTYPICFEATURE$.	false
+082337355dc28c0aa54dc94007af25fb9b531788	Four human donor eyes with the following forms of central retinal dystrophy: cone-rod dystrophy (CRD), @DISEASE$, Bardet-Biedl syndrome, and cone dystrophy-@PHENOTYPICFEATURE$.	false
+95d44e00623ff8507923904cef9723299d754219	We describe two families (including one previously reported) in which cerebellar or spinocerebellar @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism, and @DISEASE$ result from abnormal function of an autosomal recessive gene.	false
+fe6cb6151e924605b13344b60f113d9a4a7b89bf	@PHENOTYPICFEATURE$ and hypogonadism can also occur associated with a large spectrum of additional clinical manfestations, including mental retardation, sensorineural deafness, @DISEASE$, ectodermal dysplasia and short stature, and polyneuropathy.	false
+3e4214d2e38c7f94e0f0a82c4fa91a21a52186d3	Cerebellar ataxia and hypogonadism can also occur associated with a large spectrum of additional clinical manfestations, including @PHENOTYPICFEATURE$, sensorineural deafness, @DISEASE$, ectodermal dysplasia and short stature, and polyneuropathy.	false
+ced772dbdb413c9aa91d19f70f73b75b28db88ad	Spinocerebellar @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism, and @DISEASE$ (Boucher-Neuh?user syndrome)	false
+727c50fe4f02691a4a10616bbadb537688ee4f79	Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism, @DISEASE$, and mitochondrial respiratory chain complex I deficiency.	false
+5f715f71ca2f4e6f69431f7f2842141a0583342e	Nosology of the syndrome of spinocerebellar @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism, and @DISEASE$.	false
+9336336edd2c38f75b56d3d51a4dbe47d4d6a940	@DISEASE$ is a relatively common benign @PHENOTYPICFEATURE$.	false
+9d6ae2efd13e4bc2723377786cc040c66caa5c0b	We encountered a rare case of a 49-year-old man with an @DISEASE$ that was complicated by a @PHENOTYPICFEATURE$ in the external auditory canal.	false
+19c1254edff598b92329aa1feada5c755097d43a	Histopathological examination revealed a fibrous dysplasia (3x), an eosinophilic granuloma (3x), an @DISEASE$ (2x), a @PHENOTYPICFEATURE$, aneurysmal bone cyst, an osteoclastoma and a fibroma.	false
+ba2b9da402b94edb8bf8e41958ae0aa5ca808b96	@DISEASE$ is a well-described entity with short, straight tubular bones, @PHENOTYPICFEATURE$ and cloverleaf deformity of the skull, narrow chest and platyspondyly.	false
+eb6e5ecf90fdd0aa52eedcba78fd498c9e36aa36	The huge tumour resulted in obstructive @PHENOTYPICFEATURE$ and partial erosion of the clivus such that a @DISEASE$ was suspected.	false
+95bef4fe3cec2af4bb4ddd0966ff6e50f764ef3d	A total of 10 patients underwent TES (2000-2016) for primary (osteosarcoma, chondrosarcoma, fibrosarcoma and @DISEASE$) and secondary spinal tumours (lung, breast, thyroid, oesophagus, and @PHENOTYPICFEATURE$ metastases).	false
+cb9fd7e858603776147ac4993ccedb3d74fb594b	Animals implanted with @DISEASE$ cells and treated with the combination of LB100 and radiation demonstrated tumor @PHENOTYPICFEATURE$.	false
+e89e262b61996c741d69a322d7d2f7f807e812f5	Although it is usually primarily due to respiratory muscle weakness, post- @DISEASE$ individuals also have a high incidence of scoliosis, @PHENOTYPICFEATURE$, sleep disordered breathing, and bulbar muscle dysfunction.	false
+450406b61ade6e839430d4ad8cd2d5961fea5f94	People with @DISEASE$ have a higher prevalence of @PHENOTYPICFEATURE$ and a significant increase in total and regional fat mass.	false
+116c0ea34b41d95c9586a4dd544bb5c15cbe29db	The patient showed risk factors such as @PHENOTYPICFEATURE$ and @DISEASE$ infection sequelae.	false
+de986f8a9213d40b6074120cb82f86e7b2360d05	@DISEASE$ (FTLD) is a common cause of early-onset @PHENOTYPICFEATURE$.	false
+a0661963f8075a8e66ee17812e565c17570a2ffc	@DISEASE$ (FTLD) is the most common cause of early-onset @PHENOTYPICFEATURE$.	false
+13eccd9431c265c4f8fa81420823f38129b7e9fa	Frontotemporal dementia (@DISEASE$) is now increasingly being recognized as one of the causes of young onset @PHENOTYPICFEATURE$ (YOD).	false
+71ab347758ea2fb8be6355cf15f21b140e58edba	@DISEASE$ (FTD) is now increasingly being recognized as one of the causes of young onset @PHENOTYPICFEATURE$ (YOD).	false
+b0943a960f16945e631f5a0ef8a50de4ad5aade9	Frontotemporal dementia (@DISEASE$) is a common cause of young onset @PHENOTYPICFEATURE$.	false
+72cdd454d6a4a61124f99be81e50a344d30ad88c	@DISEASE$ (FTD) is a common cause of young onset @PHENOTYPICFEATURE$.	false
+e15476f0c23f1fdb9958f567fdc5a1f2cd754715	@DISEASE$ (FTD) is a common cause of early onset @PHENOTYPICFEATURE$ with behavioral variant FTD (bvFTD) being the most common form.	false
+2e0679d75215ef700852efa40c5876258054047a	Frontotemporal dementia (@DISEASE$) is a common cause of early onset @PHENOTYPICFEATURE$ with behavioral variant FTD (bvFTD) being the most common form.	false
+599b9dce031b16e05758835d6806f13721a32668	Frontotemporal dementia (FTD) is a common cause of early onset @PHENOTYPICFEATURE$ with behavioral variant @DISEASE$ (bvFTD) being the most common form.	false
+ecefa33a5e8369430476e7bdcc56a32ca38924ab	@DISEASE$ (FTD) is associated with marked @PHENOTYPICFEATURE$, but hallucinations and delusions are rare.	false
+dce9cede1bb482b6b066944e4c1e8d2072fcbd20	Frontotemporal dementia (@DISEASE$) is associated with marked @PHENOTYPICFEATURE$, but hallucinations and delusions are rare.	false
+d82436ccda0524b243e51d400962b7525f2ed1d4	@DISEASE$ (FTD) is clinically characterized by @PHENOTYPICFEATURE$, language impairment, and executive dysfunction.	false
+b505e35e2aba07246451e06ad64f9a7c2b84deff	Frontotemporal dementia (@DISEASE$) is clinically characterized by @PHENOTYPICFEATURE$, language impairment, and executive dysfunction.	false
+82a44fe1aecb5f561e90603ada8de10e41055892	@DISEASE$ (FTD) accounts for ?10% of dementia cases and is the most common cause of early-onset @PHENOTYPICFEATURE$.	false
+a9eea5340bc20fdc331e84b4ba0efb912992d2ba	Frontotemporal dementia (@DISEASE$) accounts for ?10% of dementia cases and is the most common cause of early-onset @PHENOTYPICFEATURE$.	false
+0a801707a13733a28e2c7d11e751a6a96f48f78c	@DISEASE$ (FTD) is the second commonest cause of young onset @PHENOTYPICFEATURE$.	false
+552154629a70d5442f4ec6c10d7bba6d43c02634	Frontotemporal dementia (@DISEASE$) is the second commonest cause of young onset @PHENOTYPICFEATURE$.	false
+96c5efc6b630c047c291371ee6b51ee499414c84	Frontotemporal dementia (@DISEASE$) is the second most common cause of young onset @PHENOTYPICFEATURE$.	false
+65c19d3f9940456f1644066593df02c1dfddba98	@DISEASE$ (FTD) is the second most common cause of young onset @PHENOTYPICFEATURE$.	false
+c95b391987e80f499c8cc8fce70ad2aa7365f95c	Other typical anomalies, i.e. hypoplastic limbs with @PHENOTYPICFEATURE$ and clubfoot, intrauterine atrophy, dysphagia and @DISEASE$ were also found.	false
+4ca0798e40912ef9361aa28cb4b91640bb5b581b	Though bilateral Babinski's signs disappeared after the abstinence from heavy drinking, @PHENOTYPICFEATURE$ and @DISEASE$ of the lower extremities have continued.	false
+505b255d234292c793f4470fe9c9adab716bf1db	Neurological examination revealed ocular dysmetria, dysdiadokinesia, impaired finger-to-nose exam, @PHENOTYPICFEATURE$ and @DISEASE$ in both the cases.	false
+c41e0e67f5417ffdee9f256e7afef8e8c7f32135	Neurologically, she presented horizontal nystagmus in the two extreme gazes, generalised @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f5b5922dec5bdedd18f355c8709d84749ff8f6f7	The symptoms progressed to complete paralysis of eye movements, @PHENOTYPICFEATURE$ and left hemiparesis with generalized @DISEASE$.	false
+d2556cf786d7fdb0c1ee57e507dc66a41397e04c	Neurological examination revealed slurred speech, fixation nystagmus, limb and @PHENOTYPICFEATURE$, and @DISEASE$ with pathological reflexes.	false
+22307dbed0a01038a920bbca93e4fed8a46f9d60	All three patients presented with cerebellar dysfunction that included relatively nondisabling @PHENOTYPICFEATURE$ and dysarthria, as well as @DISEASE$.	false
+73ea0e7b880fc2177d2df846f8016b1e68f0fb38	The main clinical features were weakness of the arms and legs, @PHENOTYPICFEATURE$, @DISEASE$ and bilateral Babinski signs.	false
+d51862a93ee16f0ce41ced7628b7a78caa34f2d1	Neurological examination revealed @PHENOTYPICFEATURE$, @DISEASE$ of the lower extremities, and bilateral Babinski's signs.	false
+b2c2536c6766072943c97fd306db3a72a33e893a	The subject presented with mental state changes (confusion and agitation), @DISEASE$, diaphoresis, nausea, vomiting, fever, and a @PHENOTYPICFEATURE$ which developed soon after an increase in the trazodone dose.	false
+20c4496f98a6645e31096a2969a001fe427cf914	The subject presented with mental state changes (confusion and agitation), @DISEASE$, diaphoresis, nausea, @PHENOTYPICFEATURE$, fever, and a general tonic-clonic seizure which developed soon after an increase in the trazodone dose.	false
+58ae2c26718a6767458ef0b7b9218147ad401d89	Mild right hemiparesis, @DISEASE$, dysmetria, and an @PHENOTYPICFEATURE$ were present.	false
+0ce00e446118c3e63f59e18ad4af04ca1b1f1958	Characterized by mental retardation, @PHENOTYPICFEATURE$, and behavioral disorders, @DISEASE$ is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features.	false
+5abefe0b6ed450d121e78fc45e5ed3117c093a0a	Patients with @PHENOTYPICFEATURE$ (CC) and coeliac disease (CD) without epilepsy are considered as having an incomplete form of @DISEASE$ syndrome.	false
+54d259b8c0950b269e188f08267b2b964c6ea51f	Coeliac disease, epilepsy and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome is a rare clinical condition.	false
+898019690f0b7af293a07d8f46ccd6215ad9941c	Despite its small size, this series reflects the broad spectrum of the association between the two diseases, since it includes four cases of @DISEASE$ and a more heterogeneous group of patients without @PHENOTYPICFEATURE$ comprising one case of limbic encephalitis and a case of PME.	false
+5c73a1bec3c1544f33d4e3f4c204aab0fd3af42c	We hypothesized that also in the coeliac disease (CD), epilepsy and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy.	false
+7d4a23fa46b987c1eb5823a9fc149c3b0f047a83	@DISEASE$ malakoplakia: a @PHENOTYPICFEATURE$-like lesion with coexistent adenocarcinoma.	false
+803512bb1ea52f695e7346a5e7f684677e5d103c	We suggest that this might be the pathogenesis of the @DISEASE$ syndrome, which is characterized by the association of coeliac disease, epilepsy and @PHENOTYPICFEATURE$.	false
+f8290f7e4ba5c7a93dc98d3195240b560c66efd1	[@DISEASE$ inflammatory @PHENOTYPICFEATURE$ of appendicular origin].	false
+6ba7215ca1773052d57b0cdf3b5ce824e1faa37c	A particularly interesting presentation of epilepsy in the context of gluten-related disorders is a syndrome of coeliac disease, epilepsy and @PHENOTYPICFEATURE$ (@DISEASE$ syndrome) which is frequently described in the literature.	false
+61edfd7cc9f86fe539fdf4179231adeeb4b5111e	Right-sided colonic (@DISEASE$) @PHENOTYPICFEATURE$ rarely present with features of acute appendicitis.	false
+40e36c5a977987b178f7cddb9b8fb34c6bb64ed2	Radiologic diagnosis of @DISEASE$ @PHENOTYPICFEATURE$.	false
+4659b4f5e47fd9aefb53489eec91ae3c7a4b4f9b	@DISEASE$ spectrum disorder (NMOSD) is a chronic autoimmune disorder which is associated with @PHENOTYPICFEATURE$ and a lower quality of life.	false
+74abf95200c0ec730b386741a06d8f7bd8005ff5	However, there have been limited reports of @PHENOTYPICFEATURE$ as a complication of @DISEASE$ (NMO).	false
+2f2de441cea9d78e4833e93d883acc39a6316dea	@DISEASE$ phenotype associated with therapy-responsive acute @PHENOTYPICFEATURE$.	false
+1f2f371255de9aab9da09ce98dda9ba6f8acc221	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, @DISEASE$, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+733da3c3645949aa1b8718dad2f3763e87df86ba	Abnormal nerve conduction study findings indicating the existence of @PHENOTYPICFEATURE$ in multiple sclerosis and @DISEASE$.	false
+dc94d79eb1719d3fdc7128297dbcc88c16c4a5f4	We report the case of a 32-year-old man with a 4-months diagnosis of EoE who was referred to the Emergency Department complaining of dysphagia, epigastric pain and @PHENOTYPICFEATURE$ and who was diagnosed, after an urgent endoscopy, an @DISEASE$.	false
+01fc2c8cb6e2892663305a3cf3cf7c244308f02e	An infant with oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$ is described.	false
+906b964903d46c13dda5522cfc6fafa705c01483	@PHENOTYPICFEATURE$ and @DISEASE$ were common findings.	false
+3d9b9805a18d48571a81faf515193d80ecd0a91c	Mesomelic form of chondrodysplasia and @DISEASE$ associated with de novo translocation (13;18)(q14:q23): Mesomelic dysplasias are characterized by @PHENOTYPICFEATURE$ most prominent of the middle segment of the extremities (forearm and lower leg).	false
+e45f1e66a1d9cc6c6d940c051414d2678f28e33d	The common phenotypic features of this syndrome include growth failure and mental or developmental retardation, hypotonia, persistent lanugo, distorted head, @DISEASE$, short and upturned nose, prominent maxilla, micrognathia, short, webbed neck, @PHENOTYPICFEATURE$, retroflexed third and fourth toes, cutaneous syndactyly of the second, third and fourth toes, and elevated galactose-1-phosphate uridyl transferase activity in the red blood cells.	false
+184d24c98f88f3954d1c2a88faf7e90098adc96d	Congenital cataract (38%), atresia of the naso-lacrimal duct (10%), @DISEASE$ (9%), congenital ptosis (8%), microphthalmos (8%), @PHENOTYPICFEATURE$ of iris (8%), microcornea (7%) were the most frequent eye malformations.	false
+aa671ea90640ae04d4f9f9c9968ba6766ab18f80	The four major causes of visual impairment were the hereditary/genetic conditions of @DISEASE$, hereditary macular degeneration, retinitis pigmentosa and @PHENOTYPICFEATURE$.	false
+326965a6454556a3f4b6ef8d32e5755c7e0f51b5	Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as @DISEASE$, aniridia, @PHENOTYPICFEATURE$, and cone dystrophies including achromatopsia.	false
+ac1c2479a715bfb4169e8fb28d178604e7506bb7	Oculocutaneous @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+ccbe302381505884ef35ebf07d6954b5deab3b8a	The @DISEASE$-aniridia-genital anomalies-@PHENOTYPICFEATURE$ (WAGR) syndrome is associated with an increased risk for developing Wilms' tumor.	false
+9a3f1dfdcf8ef4ce11a8e88160f12ff7fbeace70	The Wilms' tumor-aniridia-genital anomalies-@PHENOTYPICFEATURE$ (WAGR) syndrome is associated with an increased risk for developing @DISEASE$.	false
+bf2dd68e38740339119cc58309b6f599009f9571	The clinical features are @DISEASE$, amiridia, genitourinary abnormalities and @PHENOTYPICFEATURE$.	false
+75863a8d320ba1553624ae37f9a645e2cf657fc9	with minor anomalies and @PHENOTYPICFEATURE$ who developed asynchronous bilateral @DISEASE$ (WTs).	false
+8137bc73f3e32e1af4011df59d730c4b471d0d4f	These different syndromes are to be detected rapidly at risk of @DISEASE$ in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) or @PHENOTYPICFEATURE$ in Gillespie syndrome.	false
+50b1a87d2a04577177efa45bb8bcbef8007433d3	These different syndromes are to be detected rapidly at risk of @DISEASE$ in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, @PHENOTYPICFEATURE$) or cerebellar ataxia in Gillespie syndrome.	false
+922ba12309e4011490ccbe4bbc4e6947f8d62d1b	These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (@DISEASE$, aniridia, genitourinary anomalies, @PHENOTYPICFEATURE$) or cerebellar ataxia in Gillespie syndrome.	false
+f619a5bcea85e159c40a7d35c55871598ec950bc	These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (@DISEASE$, aniridia, genitourinary anomalies, mental retardation) or @PHENOTYPICFEATURE$ in Gillespie syndrome.	false
+bf825d99cbbaf482aef272d1b02a82e312f4ef80	WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (@DISEASE$), aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$ (mental retardation).	false
+501784b4fff4725920a17b7dfa89df1656b17b66	WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of @DISEASE$ (nephroblastoma), aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$ (mental retardation).	false
+f163dc2e4eb9675c3e1108478b2501d1594d6de5	WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of @DISEASE$ (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (@PHENOTYPICFEATURE$).	false
+54f45329e0abfa1eb92c6eabba07a448ed1739e7	WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (@DISEASE$), aniridia, genitourinary anomalies and intellectual disability (@PHENOTYPICFEATURE$).	false
+06abe1010ce44ed02090b17d18d5ca28c9109ef0	@DISEASE$, malformative syndrome, @PHENOTYPICFEATURE$ and de novo constitutional translocation, t(7;13)(q36;q13).	false
+2962d1397eb2bf8b88b03cef60111b13825ce8ec	Only a mild @PHENOTYPICFEATURE$ was present at the age of 7 years then she developed a @DISEASE$ (nephroblastoma).	false
+67b7c41186734d525b2495860308f8b798052a5d	Only a mild @PHENOTYPICFEATURE$ was present at the age of 7 years then she developed a Wilms tumor (@DISEASE$).	false
+5ce9addd9b93f18efe39e7043c5e8b15ce59f98e	In general, the highest novH expression was noted in the @DISEASE$, genitourinary anomalies, aniridia, and @PHENOTYPICFEATURE$ (WAGR)-associated Wilms' tumors.	false
+a15990a42200670371ed510fe2361bc0bf0dd342	In general, the highest novH expression was noted in the Wilms' tumor, genitourinary anomalies, aniridia, and @PHENOTYPICFEATURE$ (WAGR)-associated @DISEASE$.	false
+a6644f50df3dfe2bfdb58cf048c8cc7abff9af69	Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (@DISEASE$, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$).	false
+61e207ef9b2052b2eb9da414aedc93df77e986f2	Some of the sporadic cases develop @DISEASE$, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and @PHENOTYPICFEATURE$).	false
+d26d179f566266701f081f26fea92651b31a8bd6	Extrarenal @DISEASE$ with cerebellar metastasis in a four-year-old girl with @PHENOTYPICFEATURE$.	false
+d8c2478fc4224a4218d487406c1e887bf776a78b	Van den Ende-Gupta Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and @PHENOTYPICFEATURE$.	false
+545047b6aef062fe5ee4ea5ff3f1ea65be708928	We describe two Hispanic brothers born to unrelated parents with @DISEASE$ (VDEGS), a distinctive combination of characteristic dysmorphic features, @PHENOTYPICFEATURE$, and cerebellar hyperplasia.	false
+998a2dd3d0abd2349280a1b9369efab1cb3c18cc	We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (@DISEASE$), a distinctive combination of characteristic dysmorphic features, @PHENOTYPICFEATURE$, and cerebellar hyperplasia.	false
+348b0440f0aedcafa353ad53dda0436b4b20ff23	A 16-year-old girl with serologic evidence of @DISEASE$ and transient first-degree atrioventricular block underwent cardiac magnetic resonance imaging, which demonstrated myocardial hyperemia, @PHENOTYPICFEATURE$, and delayed gadolinium enhancement.	false
+2c4c5610d45ddac2f9106e9690f2096eea69cdd1	Bilateral palmar @PHENOTYPICFEATURE$ as a paraneoplastic syndrome in @DISEASE$.	false
+5b9488e317250293e21e44f43113cc9d83f30cfd	We report a case of @DISEASE$ where the development of abdominal symptoms was preceded for 6 months by paraneoplastic palmar @PHENOTYPICFEATURE$.	false
+dbf585353196ed839dff51df21ca0d12a3955f2c	Based on clinical criteria, hereditary forms have been traditionally divided into distinct entities, such as @DISEASE$, hereditary motor neuropathy, spinal muscular atrophy, familial spinal @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease type 2, also known as hereditary motor and sensory neuropathy II.	false
+0851b7602076c35e0c6ac7fc375e0ec0426bd016	All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Bj?rnstad syndrome, @DISEASE$ and a syndrome of neonatal tubulopathy, @PHENOTYPICFEATURE$, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency.	false
+17195df47ff4dc3ed76ac4bb5a5602fe902989dd	A higher density of TILs was associated with @DISEASE$ recurrence (60%, group 1 versus 21%, group 2, P=0.02) and improved 5-y disease-free survival (35.9%, group 1 versus 75.6%, group 2, P=0.04) in patients with @PHENOTYPICFEATURE$ 5 cm or greater in diameter.	false
+76f26b5d3c39f3c8149acfb190de28f584ceb71f	High peripheral @PHENOTYPICFEATURE$ angiogenesis is also correlated with @DISEASE$-free tumor survival.	false
+766c20453e947e3fec4022fa2e980a21af0c292d	High peripheral tumor angiogenesis is also correlated with @DISEASE$-free @PHENOTYPICFEATURE$ survival.	false
+5c46fb924bf66d8473aebaed349d49eb2231bad5	Predictors that a patient received no initial active treatment generally included older age, presence of comorbidities, lower Gleason score, lower @PHENOTYPICFEATURE$ stage, lower diagnostic PSA, and @DISEASE$ progression risk group.	false
+0932a3363457e3aa26cd4d0db06b53c32287c536	@PHENOTYPICFEATURE$ due to decelerated chondrocyte maturation are observed in transgenic mice where PTHrP expression is targeted to the growth plate, and in patients with @DISEASE$, a rare genetic disorder caused by constitutively active PTH/PTHrP receptors.	false
+1bd8fdbfa7c347b523ea18e9306b1aba9122fc6f	Although SMA is primarily a motor neuron disease, @PHENOTYPICFEATURE$ such as metabolic acidosis, abnormal fatty acid metabolism, hyperlipidemia, and hyperglycemia have been reported in @DISEASE$ patients.	false
+44ed94153c41faa9a79ca44620c381fe4f37ce27	We found no evidence for increased risk of 13 emotional, behavioral, and learning disorders, including autism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2f2240fb8951d7d12eb2aee4e57b0f83e7176f14	Clinical features of HD include motor dysfunction (involuntary movements of the face and body, abnormalities in gait, posture and balance), @PHENOTYPICFEATURE$ (@DISEASE$), and psychiatric disorders (dementia).	false
+0af0599804590f12550c9640ec2949082d9043e3	Twenty-seven of the victims (61%) had histories of neurological or psychiatric disorders such as dementia (N=8), schizophrenia (N=6), Alzheimer disease (N=4), atherosclerotic cerebrovascular disease (N=4), @PHENOTYPICFEATURE$ (N=2), multiple sclerosis (N=1), Parkinson disease (N=1) and @DISEASE$ (N=1).	false
+740c2549ac18d289182779644ebb91a4e5e3da03	This literature review aimed to examine the relationship between @PHENOTYPICFEATURE$ and @DISEASE$ (OCD).	false
+fddeb455138813d7da803336950f81d8a853cd89	Pediatric @DISEASE$ (OCD) has been associated with @PHENOTYPICFEATURE$, in particular executive impairments, and dysfunction of frontal-striatal-thalamic circuitry.	false
+52101811954c11a544ef6d285ebdf1e885d59fdc	Error monitoring and response inhibition is a key @PHENOTYPICFEATURE$ in @DISEASE$ (OCD).	false
+4552ce1b15faf2502eb012c1699f22890cae2fe3	This study investigated lifetime prevalence rates, demographic characteristics, childhood conduct disorder and adult antisocial features, suicide attempts, and @PHENOTYPICFEATURE$ in individuals with @DISEASE$ (OCD) uncomplicated by or comorbid with any other psychiatric disorder.	false
+5023497d4f64bfe60a1b191e9b5c11a6987d7d54	Nonimmunologic hydrops fetalis is associated with various pathological conditions, twin transfusion syndrome including acardiac monsters, fetal heart diseases, congenital cystic adenomatoid malformation, pulmonary sequestration, pulmonary lymphangiectasia, intrauterine infections such as cytomegalovirus infection and neonatal @PHENOTYPICFEATURE$, congenital neuroblastoma, @DISEASE$, cystic hygroma, and chromosomal aberrations.	false
+85101f2d81d53271e87c3809bdd68a12a233d12a	[@DISEASE$ manifesting as a humoral, malignant @PHENOTYPICFEATURE$ in a patient with cirrhosis].	false
+50c611e10c20bb2e738a7bf27d5892f5f13ca690	We report a male individual with partial @DISEASE$ and @PHENOTYPICFEATURE$, who met ICD-10 criteria for autism.	false
+d1d785d534e46573fb3dc30c7304e0ef21511509	The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, @PHENOTYPICFEATURE$, lower lip pits, hypopigmentation, seizures, @DISEASE$ A, hyperlaxity of joints and premature breast development.	false
+4532663812ba137facc649e11d0bdde508bb0295	We report a @DISEASE$ patient with a destructive oligoarticular @PHENOTYPICFEATURE$, whose synovial fluid cultures were repeatedly sterile.	false
+4c42d78eebcc37a2e1323b77c819bcdc69f53850	Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique @PHENOTYPICFEATURE$, @DISEASE$, cardiomyopathy, genital malformations, and early lethality.	false
+49810afa806e1db663f8343b02d355c249f725a1	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, @PHENOTYPICFEATURE$, ectrodactyly, syndactyly, additional @DISEASE$, and growth delay.	false
+67484d1b5275436f76bbf634d6cf6a03c8685566	A 7-year-old boy suffering from X-linked @DISEASE$ and progressive @PHENOTYPICFEATURE$ encephalopathy is reported.	false
+48ce795192767ee924dea5822826aa0a08c1244f	Patients with lymphoma, who tended to have @DISEASE$, responded less well than did patients with solid @PHENOTYPICFEATURE$.	false
+7fd62d41ce26d211b826a1b536b6eb1ac0202e11	Anorectal anomalies, diaphragmatic defect, @PHENOTYPICFEATURE$, lower lip pits, hypopigmentation and @DISEASE$ A in Kabuki syndrome: a rare combination.	false
+f19395b3350fef9a89bacada31fc26597e4d95e8	The disease manifests as @DISEASE$ with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, @PHENOTYPICFEATURE$, narrowing of the choanae, and blepharophimosis.	false
+2d3eab4761b7963f45d5faa20aeceef4cb74a351	Other features included @PHENOTYPICFEATURE$, malabsorption, joint hypermobility and dislocation, congenital hypothyroidism, idiopathic thrombocytopenic purpura, and in one patient, autoimmune hemolytic anemia and @DISEASE$.	false
+e7ee96fc646e896fdb78b9db0f35d342f14bc7a9	This @PHENOTYPICFEATURE$ is often associated with @DISEASE$ and infections.	false
+4e648363983c4296166a0fa827efeca5df504f33	It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/@DISEASE$. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$.	false
+604b8443e409bf78235161796c184cbbf17673f0	The results of this study indicate that GDC-0449 can be used to induce micrognathia, microglossia, ectrodactylia, partial @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6187da6ec848168c518949c2f4c59505dce06028	The value of conservation of dental tissues in the reconstruction of a @PHENOTYPICFEATURE$-lip-@DISEASE$ case with the aid of endosseous implants.	false
+1138c8ff3196038847c8a88221283fb3d8f4b15a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+1fd28aaaba8fd643695eeb8e44060cee63a1602b	If we compare these results with 1991 the percentage that used the @DISEASE$ was similar 66.2% (pNS); the number of emergency episodes was higher (mean 2.99 +/- 1.96) than 1998 (p < 0.006) and there are a significant differences in the diagnoses of HED between 1998 and 1991: acute @PHENOTYPICFEATURE$ 1.7 vs 11.2% (p < 0.003); hiperkalemia 0.8 vs 7.9% (p < 0.009); gastrointestinal disease 15.3% vs 4.5% (p < 0.008) and infectious 19.5% vs 7.9% (p < 0.01).	false
+31cad3e90f21101ee1159ce214d7342f61d5ffaf	If we compare these results with 1991 the percentage that used the HED was similar 66.2% (pNS); the number of emergency episodes was higher (mean 2.99 +/- 1.96) than 1998 (p < 0.006) and there are a significant differences in the diagnoses of @DISEASE$ between 1998 and 1991: acute @PHENOTYPICFEATURE$ 1.7 vs 11.2% (p < 0.003); hiperkalemia 0.8 vs 7.9% (p < 0.009); gastrointestinal disease 15.3% vs 4.5% (p < 0.008) and infectious 19.5% vs 7.9% (p < 0.01).	false
+fd2ac612ba3f2c0326e0f4f880344b4b312c633f	A 20-year-old woman and her 12-year-old brother had @DISEASE$, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow @PHENOTYPICFEATURE$, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy.	false
+ca0a3441e416547fc1bc8a86ced5ae5d3cd09e47	While association of other ectodermal dysplasia syndromes with tumors such a non-Hodgkin's lymphoma, @PHENOTYPICFEATURE$, keratoakanthoma, Merkel-cell cancer, squamous-cell carcinoma, syringofibroadenomatosis has been reported, association of @DISEASE$ and a tumor has not been reported.	false
+4b08c86d95308c61d0ade7f391f04689aa020acf	A case is described where symptoms of @PHENOTYPICFEATURE$, chronic @DISEASE$ and eosinophilia were present.	false
+9fb1e8dc3267753512932e6c07a70a4b3e2ddbf8	Anti-synthetase syndrome comprises the association of @DISEASE$ (PM/DM), interstitial lung disease, @PHENOTYPICFEATURE$, Raynaud's phenomenon, mechanic's hands, and anti-aminoacyl tRNA synthetase antibodies.	false
+0b4620d40045c8dd4a597a87a5bdea072f723ed2	A dry cough, @PHENOTYPICFEATURE$, generalized maculopapular rash, and @DISEASE$ developed in a 67-year-old woman; she also had markedly abnormal liver function test results.	false
+0357dd4889a3500df277f26bc2a6bbd055efc0f4	[Neonatal parechovirus infection, @PHENOTYPICFEATURE$, irritability and @DISEASE$].	false
+3ed903ea915dc91d09be5c65c4aa26c27ac1f0f1	It is associated with serum antibodies to aminoacyl-transfer RNA synthetases and is characterized by a constellation of manifestations, including @PHENOTYPICFEATURE$, @DISEASE$, interstitial lung disease, "mechanic's hands," Raynaud phenomenon, and polyarthritis.	false
+04f6ef545e6a6ff440a21b49bd9671bbf7323d83	At least 30% had splenomegaly, @PHENOTYPICFEATURE$, cutaneous abscesses and/or arthritis/@DISEASE$.	false
+7cdfa63bb4d5272e02343751ec609260c305087f	We studied a family with a dominantly inherited autoinflammatory disease, distinct from FMF, characterized by childhood-onset recurrent episodes of neutrophilic dermatosis, @PHENOTYPICFEATURE$, elevated acute-phase reactants, arthralgia, and myalgia/@DISEASE$.	false
+62a1fb3fe1d39abeb64bc2a19b10b73a8360d07d	Physicians must be aware of trichinosis and should include it in their differential diagnosis when examining patients with @PHENOTYPICFEATURE$ and @DISEASE$ with or without eosinophilia.	false
+400c82d6b6cb2869d4ae05dcfcb7b2effee28316	In August, 1998, a 53-year-old Japanese man was admitted to our hospital because of @PHENOTYPICFEATURE$, polyarthritis and erythematous heliotrope eruption and Gottron's sign without any symptom of @DISEASE$.	false
+30a8020f08deabac3f60703863ecfa212460b83a	Anti-synthetase syndrome is characterized by @DISEASE$, interstitial lung disease, arthritis, @PHENOTYPICFEATURE$, Raynaud's phenomenon, and mechanic's hands.	false
+c5eed8cf0d2649cf31c9747a2213a27dbece1634	Familial adenomatous polyposis, osteomatous jaw and ocular lesions, several @PHENOTYPICFEATURE$, and an abdominal @DISEASE$ are the characteristic features of this case.	false
+8e242faa6a2be56247771fec48a3d33d2c3984ed	On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as @DISEASE$, osteomas, lipomas, @PHENOTYPICFEATURE$, dermoid cysts and duodenal adenomas.	false
+279668b3b3268ae92b10fc66c0c56e4f660932ce	Gardner's syndrome (GS) is a rare syndrome with autosomal dominant inheritance, which is characterized by multiple intestinal polyps, @PHENOTYPICFEATURE$, @DISEASE$, and soft tissue tumors.	false
+db16c682b40114fc5b5f54a973528e8df672b03f	FAP may present with some extraintestinal manifestations such as osteomas, @PHENOTYPICFEATURE$ (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), @DISEASE$, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system).	false
+1fd4ba83ddfccd2c738e0e717ba5d91287a6dc24	Affected individuals can develop thyroid and pancreatic cancer, hepatoblastomas, CNS tumors (especially medulloblastomas), and various benign tumors such as adrenal adenomas, osteomas, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fe4a8e145192e4cdbeec9bad2f3010096b29ee78	Cerebellar ataxia and hypogonadism can also occur associated with a large spectrum of additional clinical manfestations, including mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, ectodermal dysplasia and short stature, and polyneuropathy.	false
+04e5389c1431eeaf9644318a21a360c8606bf9fc	@DISEASE$ and slowly progressive @PHENOTYPICFEATURE$.	false
+cf5799b0124b658dedc523b95bdd2a33515fe324	@DISEASE$ (PTCD) is a newly described brainstem malformation with distinct neuroimaging findings, characterized by a flattened ventral pons, @PHENOTYPICFEATURE$ and vaulted pontine tegmentum that forms a "caplike" or "beaklike" bulge projecting into the fourth ventricle.	false
+dd36f4353b2f94d36d038b4c502dd0be200cdcf0	and a new congenital abnormality syndrome including anotia/@DISEASE$, poly/@PHENOTYPICFEATURE$ and caudal (genital and anal) defects (OR with 95% CI: 3.0, 1.3-27.4).	false
+3d8f2c27631384429dc08b086067ae3cc6da401b	However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-@DISEASE$, @PHENOTYPICFEATURE$ and cleft palate have increased.	false
+e4ba17251f5f062ea0187e3f475bac4ac0e8d2c8	Seven patients with bilateral microtia and aural atresia, and three patients with unilateral @DISEASE$ and bilateral @PHENOTYPICFEATURE$ were fitted with soft-band BAHA for a few months, followed by receiving unilateral BAHA implantation.	false
+9fcb61f5ceac8f79c2d2d086ea0b0da07d7cf430	Classic @DISEASE$ is combined with external ear canal atresia and @PHENOTYPICFEATURE$.	false
+46f438cb95820ed5acfe7d120d9296bf2c63e6ae	Familial @DISEASE$ in four generations with variable expressivity and incomplete penetrance in association with type I @PHENOTYPICFEATURE$.	false
+2624156685bd3a031d3fd8ed52ee6ea8f76d2790	The system of congenic strains of the laboratory rat carrying the mutant allele lx which is determining the @PHENOTYPICFEATURE$-luxate syndrome (@DISEASE$) was used for testing teratogenicity of six compounds from different pharmacological groups (cyclophosphamide, cyadox, carbadox, imipramine, verapamil, TIA).	false
+63cfe5429ca6c7fe8ee37dcd7e72dde936847280	K-means clustering using the 25 patients with complete datasets suggested that patients with @DISEASE$ can be classified into 2 groups based on clinical variables, namely @PHENOTYPICFEATURE$, objective bulbar signs, and urinary urgency.	false
+fa90f07df67597028de7372f70649d2bb304e365	Genetically controlled morphological variability of the @PHENOTYPICFEATURE$-luxate syndrome (@DISEASE$) of the Norway rat.	false
+d30b26c8c7af6fafc0fe4c9297df68a82f704ae8	Morphometric analysis of malformation manifestations of the mutant allele of the @PHENOTYPICFEATURE$-luxation syndrome (@DISEASE$) in the homozygous and heterozygous state.	false
+c2c7a98f7b4ae7d0ac13d5211ff1e5cab5dc7fd2	Ten PLS patients had abnormal scores in at least one neuropsychological test (@DISEASE$ with @PHENOTYPICFEATURE$, PLS-cd).	false
+e12c531ddaddac9d9c6001ad80eb1a47fc14c7d3	Ten @DISEASE$ patients had abnormal scores in at least one neuropsychological test (PLS with @PHENOTYPICFEATURE$, PLS-cd).	false
+5558efaf7211c2e6a532dea85aa8ea2f4fc8cda7	Bilateral hereditary micro-epiphyseal dysplasia (@DISEASE$) is a distinct @PHENOTYPICFEATURE$ with specific clinical and radiological findings.	false
+db686a6a30676d04737f50e62b53626cd6a1acd2	@DISEASE$ (BHMED) is a distinct @PHENOTYPICFEATURE$ with specific clinical and radiological findings.	false
+3c46ade85c103a0637075d2b03be31331ce97959	There are few genetic analyses of @DISEASE$ @PHENOTYPICFEATURE$ reported at the present time and the eventual gene involved was not identified yet.	false
+decd7008ffedfc6245bc247bf39b42b917e7de8f	There are few published case reports of neonatal @DISEASE$ complicated by subdural empyema, cerebral abscess and @PHENOTYPICFEATURE$.	false
+c1c54e8e463d5ec7f249b9761dbde9cfaac553a8	We report a case of @DISEASE$ with multiple cerebral abscesses which presented on fifth day of life and developed @PHENOTYPICFEATURE$ at five weeks of life requiring a Ventriculo Peritoneal (VP) shunt.	false
+e733115153f20cf3641f25c822163b707f87b4fa	@DISEASE$ manifesting as @PHENOTYPICFEATURE$: a clinical dilemma.	false
+80884d3b1d46a08d910b9ebef80c7cef5b890b7a	Ten patients with probable CJD had asymmetric manifestations with hemiparesis, focal @DISEASE$ or @PHENOTYPICFEATURE$; 9 had clinical manifestations mimicking the corticobasal syndrome.	false
+02c41cc9336a61a394ed06d5a746a51de90cca00	We report a case of @DISEASE$ (SCID) revealed by a disseminated @PHENOTYPICFEATURE$.	false
+a134a4a5651fe52cc4943d3dda74141d8aed7a94	The data indicate that the GH/IGF-I axis in these partially corrected @DISEASE$ patients with @PHENOTYPICFEATURE$ is profoundly impaired, and supports previous studies suggesting that the underlying gamma c defect may contribute to the severe growth failure in XSCID.	false
+164f30d717ec73696b7ab82e3f36c071438e93c7	Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+dfb3b6b294578809b5c066ab3c9006e4b5954957	It is proposed to call this disorder the @DISEASE$ (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, @PHENOTYPICFEATURE$).	false
+3031bad37ae2d27248f12d9171f02f810400141d	Five other autosomal dominant diseases show more heterogeneous clinical patterns, such as the Carney complex, @PHENOTYPICFEATURE$-jaw tumour syndrome, @DISEASE$ (VHL), neurofibromatosis type 1 (NF1) and tuberous sclerosis.	false
+1ffae42fb0b042527c6bc95a2110961542c5c3e9	Five other autosomal dominant diseases show more heterogeneous clinical patterns, such as the Carney complex, @PHENOTYPICFEATURE$-jaw tumour syndrome, Von Hippel-Lindau syndrome (@DISEASE$), neurofibromatosis type 1 (NF1) and tuberous sclerosis.	false
+54dce477cc21a0532313e8f2d972d97e495e5612	Genetic analysis of the CDC73 gene [for @PHENOTYPICFEATURE$-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for @DISEASE$, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44?K) were all normal.	false
+2afd8567eeb14638017d9919c376424d29203037	Genetic analysis of the CDC73 gene [for @PHENOTYPICFEATURE$-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, @DISEASE$ for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44?K) were all normal.	false
+67c0e252b7d6a8f5a078b7a34055b1c105b23c5c	It also harbors the genes for several genetic disorders, including Type I hereditary nonpolyposis colorectal cancer (HNPCC), familial male precocious puberty (FMPP), Carney complex (CNC), Doyne's honeycomb retinal dystrophy (@DISEASE$), and one form of familial @PHENOTYPICFEATURE$ (DYX-3).	false
+b84431b561ea6fcbfce3813b3d0ca67151828294	@DISEASE$ is a rare condition characterized by multiple @PHENOTYPICFEATURE$ classically located on the anterior chest.	false
+e740d3aeb861c30be359544672d46a63050d2c96	In this article, which is part 2 of a two-part series, the authors review the most relevant clinical and sonographic features of arteriovenous, capillary, venous and lymphatic malformations as well as vascular malformations that are part of more complex conditions or associated with syndromes, including @DISEASE$, phosphatase and tensin homologue (PTEN) hamartoma tumor syndromes, Klippel-Tr?naunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi and @PHENOTYPICFEATURE$) syndrome, fibro-adipose vascular anomaly and Proteus syndrome.	false
+323fce8a4e827e5b2a0aa3a552431d4e97383bdb	The size of lateral @PHENOTYPICFEATURE$, measured every 6 months following admission, was significantly larger in the @DISEASE$ patients than in the control subjects.	false
+e947105c282f9eb529f9267b0665f030e32b2236	A71-year-old male presented with @PHENOTYPICFEATURE$, headache, and anorthopia associated with wavy choroidal folds and aserous retinal detachment (@DISEASE$).	false
+a0c9eaee31972d1c3d851ff283a141ddd650cb42	HIV-1 p24 gag seroreactivity was found in 27 (35%) of 77 patients with primary biliary cirrhosis, 14 (29%) of 48 patients with systemic lupus erythematosus, 14 (50%) of 28 patients with chronic viral hepatitis, and nine (39%) of 23 patients with either @DISEASE$ or @PHENOTYPICFEATURE$, compared with only one (4%) of 24 patients with alcohol-related liver disease or alpha1-antitrypsin-deficiency liver disease, and only one (4%) of 25 healthy volunteers (p=0.003).	false
+3a47db387c2dddf1671975da5196925742f1c398	It is rarely seen in the pediatric population, and when it is diagnosed before adulthood, it can be associated with @DISEASE$ as well as HIV infection, @PHENOTYPICFEATURE$, radiation therapy, and choledochal cyst.	false
+df79fa6c9d3a2315862fc22397469ef185097a7b	primary biliary cirrhosis, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+352837f99894769b77e671ae87bc9f32b1553402	These include congenital diseases (such as @PHENOTYPICFEATURE$ and cystic fibrosis), acquired diseases (such as @DISEASE$ and primary biliary cirrhosis), and those that arise from secondary damage to the biliary tree from obstruction, cholangitis or ischaemia.	false
+3310fb989bd844e670854ed298123ca48a58403e	Coincidental cases of @DISEASE$ and @PHENOTYPICFEATURE$ in siblings?	false
+4520b701a00dff71168a1d770a1bac16d8067a30	The role of ductal union has also been investigated in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e470e431e65b9014d1bd0404660ca8f5db38454f	@DISEASE$ and primary biliary cirrhosis are the most commonly recognized cholestatic liver disease in the adult population, while @PHENOTYPICFEATURE$ and Alagille syndrome are commonly recognized in the pediatric population.	false
+1499a53628abeb4798210824fc4db0808f1b2858	To report a new technique called relaxing Descemetotomy for treatment of bullous Descemet detachment (@DISEASE$) secondary to accidental hydroseparation of Descemet membrane (DM) during stromal hydration in @PHENOTYPICFEATURE$ surgery.	false
+83a963ee1952aabe6a8c8631e8a409b4575b1414	11 healthy control dogs, 9 dogs with adrenal-dependent hyperadrenocorticism (adenocarcinoma [ACA] or other @PHENOTYPICFEATURE$); 11 dogs with @DISEASE$, and 6 dogs with noncortisol-secreting adrenal tumors (ATs).	false
+4d7d3cfa993ce6d307ef8398185ae9b15caa93c9	At three and four hours after the intravenous administration of 0.1 mg/kg dexamethasone, the concentrations of aldosterone decreased significantly to about 60 per cent of their initial values in the control dogs but did not change in the dogs with @DISEASE$ or an adrenocortical @PHENOTYPICFEATURE$.	false
+58188f5be2d30e95fd99e3866466bc2035241e88	Final diagnoses included @PHENOTYPICFEATURE$ (16), small-for-dates (SFD) infant without any abnormalities (seven), chromosomal abnormality (three), @DISEASE$ (one), Marden-Walker syndrome (one), and suspected Freeman-Sheldon syndrome (one).	false
+1dad9cb25b31132bf9440be5c795b0907467debb	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+8991b6786275d63c5588e41e900b2a33579a168e	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, @DISEASE$, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+70bd8502245f008772e4cd2d87719e5da91d656d	Immunohistochemical evaluation of lung carcinomas for key enzymes involved in cellular metabolism (lactate dehydrogenase LDH 1 and 5, pyruvate dehydrogenase @DISEASE$, pyruvate dehydrogenase kinase PDHK-1, monocarboxylate transporters MCT 1, 2 and 4, glucose transporter GLUT1, hypoxia inducible factors HIF1alpha and 2alpha) show a complementary metabolic profile between cancer cells and @PHENOTYPICFEATURE$-associated stroma.	false
+d0ee3c97f7b56de6d40dfc79dc16372620a39d89	Congenital brain malformations, including @PHENOTYPICFEATURE$, have been described in @DISEASE$.	false
+38d4aa6c74b43378361f8b9b1aa83018de1d2723	Good treatment options are surgical removal of the causal @PHENOTYPICFEATURE$, i.e. hypophysectomy for @DISEASE$ and adrenalectomy for an ACT, or radiotherapy in cases with PDH.	false
+c753b8d63d8c2cf91e96f18ca514467b1d8ad32b	@PHENOTYPICFEATURE$ are common in the first episode of psychosis (@DISEASE$) and may begin much earlier.	false
+ca7c09dbbd2588fe174c59f353d2c4ae9eb253f2	Further, the abnormal causal effect was associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+94fb3886ffbf10ea71240180cf1bdf9df3fc97a2	No previous meta-analysis investigating the relationship between DUP and @PHENOTYPICFEATURE$ in @DISEASE$ has been published.	false
+0fac5a1b5fe1b2f4602c9d4a2082fa70fa5df88e	The aim of this study is to investigate whether Brain Derived Neurotrophic Factor (BDNF) levels are associated with @PHENOTYPICFEATURE$ in @DISEASE$ patients compared with healthy controls.	false
+fe70587107285b7d5654af87d29234ee88f48491	To further elucidate whether gonadal steroids and/or gonadotropins modulate melatonin secretion in humans we compared untreated young males with hypogonadotropic hypogonadism (@DISEASE$, n = 6), and @PHENOTYPICFEATURE$ caused by KlinEfelter's syndrome (KS, n = 11) to normal pubertal male controls (n = 7).	false
+9bb1f1cf9f090c5cd5202a2e1503dea8a4b6f2dd	Synthetic human GRF (hGRF (1-44) NH2; SM-8144) was administered as an iv bolus to 141 normal children of @PHENOTYPICFEATURE$ (NSC), 73 patients with severe idiopathic GH deficiency (@DISEASE$; group A), 30 patients with mild idiopathic GH deficiency (IGD; group B), 29 patients with secondary GH deficiency, 3 patients with primary hypothyroidism, 21 patients with Turner's syndrome and 25 patients with various other disease.	false
+33de0d54f0912a880b8dde163a5716c15efeb084	Synthetic human GRF (hGRF (1-44) NH2; SM-8144) was administered as an iv bolus to 141 normal children of @PHENOTYPICFEATURE$ (NSC), 73 patients with severe idiopathic GH deficiency (IGD; group A), 30 patients with mild idiopathic GH deficiency (@DISEASE$; group B), 29 patients with secondary GH deficiency, 3 patients with primary hypothyroidism, 21 patients with Turner's syndrome and 25 patients with various other disease.	false
+3314ed94d91ab726b924ee9e28dcb47b40de126b	Hyper @DISEASE$ and periodic fever syndrome (HIDS; OMIM 260920) is one of the hereditary autoinflammatory syndromes characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.. HIDS is an autosomal recessive disorder characterized by recurrent fever attacks in early childhood.	false
+3f5d09a2d32d411e148b71d91adef2c81608805d	There is a clinical overlap to hereditary periodic fever syndromes as familial Mediterranean fever (FMF), Hyper-@DISEASE$ and @PHENOTYPICFEATURE$ syndrome (HIDS), Tumor-necrosis factor receptor associated periodic syndrome (TRAPS) and others, in which a genetic basis for the disease has already been found.	false
+2335b6895f633716b774a537a73f1b4a63a8eb92	Hyper-@DISEASE$ and periodic fever syndrome (HIDS) is an autosomal recessively inherited disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+b7bd8bab28a15840df40d80b82d63192bf5fb248	Classical type hyper-immunoglobulin D (@DISEASE$) syndrome (HIDS) is an hereditary auto-inflammatory disorder, characterized by recurrent episodes of @PHENOTYPICFEATURE$, lymphadenopathy, abdominal distress and a high serum concentration of IgD.	false
+2dee15164d303f30c68bc248a4473f25a02aacae	Hypoglossia-hypodactyly, or @DISEASE$ with or without @PHENOTYPICFEATURE$, is an extremely rare congenital condition.	false
+7ba5e394be5e00d52041bc5bfe6a27946e0f38bc	We have previously reported 3 patients with @DISEASE$ without @PHENOTYPICFEATURE$ who were treated with transverse distraction osteogenesis at the mandibular symphysis during childhood.	false
+13a8bc3cdf23f63dee297d91595f2c7f87fb7a39	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as @DISEASE$, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+f5fac16694fbd159bd1b4885859b3480b507d236	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as @DISEASE$ and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+b7cf9f5fa3a3af28eead3fc3d51f6cb6030187eb	@PHENOTYPICFEATURE$ in siblings with @DISEASE$.	false
+69b8797ccf86347573b196e102ba63e676ef77c6	Associations between @DISEASE$ and @PHENOTYPICFEATURE$, behavioural abnormalities, non-infectious pulmonary disease and skeletal dysplasia are all recognised, and affect the long term outcome for these patients.	false
+e1571f67623b01f93345b6660c86118c95e01c4b	Using a series of multivariate models that controlled for the variables of age, sex, and payer source, as well as disease, disorders, and ophthalmology procedures, we found that the existence of @PHENOTYPICFEATURE$ added 2.4 days to the ALOS (P<.001), while eye pathology combined with a secondary diagnosis of visual impairment @DISEASE$ 1.8 days to the ALOS (P<.001).	false
+c2ca86c81e61a055fb9979783f453b4f477cc966	Using a series of multivariate models that controlled for the variables of age, sex, and payer source, as well as disease, disorders, and ophthalmology procedures, we found that the existence of visual impairment added 2.4 days to the ALOS (P<.001), while eye pathology combined with a secondary diagnosis of @PHENOTYPICFEATURE$ @DISEASE$ 1.8 days to the ALOS (P<.001).	false
+1df626db2519a879fec4b5e08fe8177d27b63f3d	Because there were no structural abnormalities in the inner and middle ears, no evidence of prenatal infections of rubella, cytomegalovirus or toxoplasma, and no postnatal infection of mumps in the siblings, @PHENOTYPICFEATURE$ might be one of the neurologic problems associated with @DISEASE$.	false
+342f28f906a06b3630f867e6c0f015efbf484d58	Assessment-of-Dominant-Damage (@DISEASE$) experiments explored induction by proven specific-locus mutagens of dominant mutations that cause skeletal anomalies, @PHENOTYPICFEATURE$, and stunted growth in offspring of mutagenized male mice.	false
+8b0a0d49f7cd6dd5b621c136bbbf44a7b68789d9	The RCTs were high-quality Level 1 evidence (Physiotherapy Evidence Database ?8) and found dextrose injection superior to controls in @DISEASE$, lateral epicondylitis of the elbow, traumatic rotator cuff injury, knee OA, finger OA, and myofascial @PHENOTYPICFEATURE$; in biomechanical but not subjective measures in temporal mandibular joint; and comparable in a short-term RCT but superior in a long-term RCT in low back pain.	false
+c86fcd075642fe0a5180dc2c5ab9a2421d667fb3	After CMC, poor functional improvement, @PHENOTYPICFEATURE$, atrial fibrillation, and the necessity for a repeat @DISEASE$ were associated with late MVR.	false
+e38eab63f6586d2fb91135240d5cd7e6d88db37d	Postoperatively, poor functional improvement, @PHENOTYPICFEATURE$ and the necessity for a repeat @DISEASE$ were associated with late MVR.	false
+5901bbcd36d435cd6bfb67653e9ff750b2125924	Close clinical follow-up and laboratory testing revealed previously unrecognized hypoglycemia, @PHENOTYPICFEATURE$, combined hyperlipidemia, and anemia, along with the characteristic urinary metabolites, including massive @DISEASE$.	false
+a4a8711ee4e1b90fcd1537b54009fc6a4ea6793f	Photosensitivity was more common in idiopathic generalized epilepsy (IGE), (epilepsy with grand mal on awakening, 74%; juvenile absence epilepsy, 56%; juvenile @PHENOTYPICFEATURE$ epilepsy, 50%; childhood absence epilepsy, 44%) than in focal types (idiopathic partial - @DISEASE$, 23%; symptomatic/cryptogenic type of epilepsy, 16%), while in patients who experienced occasional seizures (neonatal/febrile seizures), this ranged between 40% and 23%, respectively.	false
+bbf2a312e17ccb3664439fb1df88311491506115	The results can also be used for the analysis of the skin temperature over biological heat sources such as @DISEASE$ @PHENOTYPICFEATURE$.	false
+c931bb6ce18320d4e45ea277edaa7e1fbdfe757e	Eight patients were classified according to the Classification of Epilepsies and Epileptic Syndromes of ILAE as idiopathic generalized or localized epilepsy: three as idiopathic generalized epilepsy, three as @DISEASE$ and two as juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+9fcc906cefa0591093b5616218651bdeb7f1a3ad	Strong LPCAT1 was associated with @DISEASE$ grade, @PHENOTYPICFEATURE$ cell proliferation and overall survival in all cancers and in the subgroup of NST cancers (p<0.0001,	false
+a9ec7246016c94e2b38056f4baaa3d41cb6a7a27	Adolescent-onset schizophrenia (@DISEASE$) is associated with @PHENOTYPICFEATURE$ and poor clinical outcome.	false
+759db997cb7c6a97babd562536c907d2bbbe83a9	Short trunk stature, @PHENOTYPICFEATURE$, and platyspondyly in three sibs: a new form of @DISEASE$ or a new skeletal dysplasia?	false
+d2eda6cb40d90b83115b745a68edd879c4c2fd73	Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type brachyolmia, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had @PHENOTYPICFEATURE$ which was not present in Hobaek type @DISEASE$.	false
+f0941cda87b5f31a8a91be943a5f86d2093118f3	Although short trunk stature and severe rectangular platyspondyly without significant epiphyseal or metaphyseal changes were in favor of Hobaek type @DISEASE$, this diagnosis was not considered, both because, there were no specific radiological findings of this syndrome, such as elongated vertebral bodies extending beyond the pedicles laterally and all of the patients had @PHENOTYPICFEATURE$ which was not present in Hobaek type brachyolmia.	false
+666c98268dcc305460366a7f51328a1b764855c9	The @DISEASE$ (PBD) are characterized by neural, hepatic, and renal deficiencies, @PHENOTYPICFEATURE$, and are often lethal.	false
+6a0363c42dace7d011e07e0be991699de46a3552	The visceral manifestations were those of the @DISEASE$ (ZS); however, the child exhibited muscular @PHENOTYPICFEATURE$ and survived into the 2nd year of life.	false
+133a704a885f5cca23fe818f22fc0e978d2f47c4	Neurodegenerative diseases (AD, ALS, bipolar disorder, epilepsy, Friedreich's @PHENOTYPICFEATURE$, HD, MS, NBIA, NPC, PD, peroxisomal disorders, schizophrenia, Wallerian degeneration, @DISEASE$) and CNS traumas (stroke, TBI, SCI) are problems of vast clinical importance.	false
+1912e7c9483a9c053bc53b21a0a95eaf56d09ae2	@DISEASE$ should be considered in the differential diagnosis of autosomal recessive @PHENOTYPICFEATURE$, especially cases with early onset.	false
+6666f1aab04acf75ba6040553f308aa7b3b71c99	Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of @DISEASE$, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with @PHENOTYPICFEATURE$, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement.	false
+bb312fcc52065c53c9a21b73bd9162d8d7737696	Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely @DISEASE$ (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with @PHENOTYPICFEATURE$, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement.	false
+4dd58881e7b906cb5356bfed820f9aaff1509ca4	Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely @DISEASE$ (severe), neonatal adrenoleukodystrophy (moderate) and an @PHENOTYPICFEATURE$ form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement.	false
+9cb3db6429c4577625510e286bafde50783644cb	Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of @DISEASE$, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an @PHENOTYPICFEATURE$ form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement.	false
+f9876c21780106744dff758ea961c3fe51d9df9f	Expanding the spectrum of PEX10-related @DISEASE$: slowly progressive recessive @PHENOTYPICFEATURE$.	false
+67b4923bc50baa75d278e79cc34692431c39ee02	@DISEASE$ should be considered in the differential diagnosis of autosomal recessive @PHENOTYPICFEATURE$.	false
+2870652b3437f3f4befe8f15f7ec08e95ad86ac7	The @DISEASE$ (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities; @PHENOTYPICFEATURE$; and, in their most severe form, death within the 1st year of life.	false
+7b4dacbc708df515314a72ccdd7afb2a80d40f85	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (@DISEASE$), @PHENOTYPICFEATURE$, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+7c7cb740efd1656019efed0e8347a57fb38bb055	Genes currently recognized to be involved include KAL-1 (associated with X-linked Kallmann Syndrome), gonadotropin-releasing hormone (GnRH) receptor, gonadotropins, pituitary transcription factors (HESX1, LHX3, and PROP-1), orphan nuclear receptors (DAX-1, associated with @DISEASE$, and SF-1), and three genes also associated with @PHENOTYPICFEATURE$ (leptin, leptin receptor, and prohormone convertase 1 [ PC1]).	false
+b563f8c365430d159032651effa75dc7feab9c29	Mutations in DAX1 cause @DISEASE$, and mutations in SHP lead to mild @PHENOTYPICFEATURE$ and insulin resistance, but the mechanisms are unclear.	false
+0bee77361bcbf92c5226a83b5684e9c12c0080e6	HH occurs in DAX1 mutations when associated with adrenal insufficiency (@DISEASE$), and is also linked with @PHENOTYPICFEATURE$ in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1. Rarely, HH has resulted from kisspeptin receptor (GPR54) mutations, a gene implicated in the regulation of pubertal onset.	false
+eaac7f4d6dad0b283ceccb2142dc69b32496f200	IMAGe is a newly reported syndrome characterized by the association of intra-uterine @PHENOTYPICFEATURE$, metaphyseal dysplasia, @DISEASE$ and genital anomalies.	false
+9dd6b10f1bb9e10b74cd7ba561acd0204c7fbf21	Important life threatening causes in infancy include congenital intestinal obstruction, atresia, malrotation with volvulus, necrotizing enterocolitis, pyloric stenosis, intussusception, shaken baby syndrome, @PHENOTYPICFEATURE$, inborn errors of metabolism, @DISEASE$, obstructive uropathy, sepsis, meningitis and encephalitis, and severe gastroenteritis, and in older children appendicitis, intracranial mass lesion, diabetic ketoacidosis, Reye's syndrome, toxic ingestions, uremia, and meningitis.	false
+daed2f3afcbdbcdd17e3e7f298cb4fadf69f3163	[@PHENOTYPICFEATURE$ profile and heart rate in @DISEASE$].	false
+48f60fc2c9def8813ed1d45ab58bc4c443df92e5	Ischaemic stroke in @DISEASE$ without @PHENOTYPICFEATURE$.	false
+625c55b6480fd48adde6fbd8d7c584c2c981b5a7	[Tendency to @PHENOTYPICFEATURE$ as the initial symptom of @DISEASE$].	false
+965b2d6e98c3c7542b1cf61d86ec204f7ba6f0b8	Myopathic changes are commonly described in hypothyroid and @DISEASE$ patients, including @PHENOTYPICFEATURE$ and weakness.	false
+84cb7d77768834fe9381e242477b027e2af167c7	[Fruste form of @DISEASE$ manifested by auricular @PHENOTYPICFEATURE$.	false
+5887a0f40c0bc6429a25bcb1dbb6c6000132f565	The characteristic features of @DISEASE$ were proptosis and @PHENOTYPICFEATURE$.	false
+0f95da53aabacebf3f11bdfd4f3fcf3cb864f332	However there is limited literature for ischaemic stroke occuring in @DISEASE$ without @PHENOTYPICFEATURE$.	false
+61d29291a8be8909912e68fce5b31a1fbc1922b2	Case report: reversible systolic heart failure and deep @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4e65aea3e58be81df3ccfe7bb5521d94406ce82a	@PHENOTYPICFEATURE$ of the optic disc in @DISEASE$ without exophathalmos.	false
+6ad5d0159bc679043cff312f523394563e22597a	Congenital @DISEASE$ can be a cause of @PHENOTYPICFEATURE$, hyperactivity, developmental delay, and craniosynostosis during infancy.	false
+3f9f01f0de374f652b9cad8532cd8f0896c49db3	Gonadoblastoma and dysgerminoma/seminoma are the most prevalent GCTs and @DISEASE$ carries the highest @PHENOTYPICFEATURE$ presence and malignancy risk.	false
+cc92329bf92ba4194d4464b42035e56739187ac2	To analyse the long-term outcomes of patients with @DISEASE$ regarding testosterone production, germ cell @PHENOTYPICFEATURE$ risk, genotype and psychosexual adaptation.	false
+d0b5cc2e2a8421a19dcedcfbd71c621f73e5225e	Mutations in human RIPK4 manifest as @DISEASE$ (BPS), a genetic disorder characterized by severe craniofacial and @PHENOTYPICFEATURE$.	false
+30ac1519578b5d763213072876fbba26c2d92524	Relationship between nailfold capillary abnormalities and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8de725d7a7d019e0bf1cdb8d291e70ece7960835	@PHENOTYPICFEATURE$ type abnormalities in patients with @DISEASE$.	false
+b8bc28d55fefd59b0e0d2d4686bc23e93824f870	@PHENOTYPICFEATURE$ was found in @DISEASE$ patients in frequencies above 4000?Hz.	false
+4fbf4158dbb13321c9b460a15efcdcd22d8d6489	Increased prevalence of ocular @PHENOTYPICFEATURE$ abnormalities in @DISEASE$.	false
+4fbf4158dbb13321c9b460a15efcdcd22d8d6489	Increased prevalence of ocular @PHENOTYPICFEATURE$ abnormalities in @DISEASE$.	false
+2ef45eeea927d0d92d64247393214a4ddd9ec739	@DISEASE$-like skin involvement is associated with @PHENOTYPICFEATURE$ and hypergammaglobulinemia.	false
+784d14c0c9b4f7b8bfd470c906e4c47ea97145f3	@PHENOTYPICFEATURE$ and telangiectasia may be the first striking presentation of @DISEASE$ (SSc).	false
+1ae748bcfdca3a6f7b2317744a0df4ff49c0d486	To describe the prevalence of auditory and @PHENOTYPICFEATURE$ in individuals with @DISEASE$ (SS) and the hypotheses to explain these changes.	false
+c40d1923b66097ffea777451c98cdc1eb0dd7bff	Eosinophilic fasciitis is an uncommon @DISEASE$-like disorder characterised by induration and thickening of skin and soft tissue, usually associated with peripheral @PHENOTYPICFEATURE$, poorly characterised in childhood.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+a5fcfe1d91fe1ee4e81956b0b707618daae2ee6c	Main indications were active bleeding, iron deficiency anemia (IDA), inflammatory bowel disease (IBD), @PHENOTYPICFEATURE$, and @DISEASE$ (FAP).	false
+84053ff05d55072471fd8674c09705a22f7bf2a4	Main indications were active bleeding, iron deficiency anemia (IDA), inflammatory bowel disease (IBD), @PHENOTYPICFEATURE$, and familial adenomatous polyposis (@DISEASE$).	false
+5c5f118debc900317682a4186c43acfdbf788081	A 20-year old @DISEASE$ (FAP) patient presented with @PHENOTYPICFEATURE$ and distention.	false
+ceeefe83bc1614c36c6342fc895d22870f56e771	A 20-year old Familial Adenomatous Polyposis (@DISEASE$) patient presented with @PHENOTYPICFEATURE$ and distention.	false
+a2bbf178d574d08d07f3cb8bb7273d2a5255f3f1	A 43-year-old woman presented with a @PHENOTYPICFEATURE$ 17 years after total colectomy for @DISEASE$.	false
+382eae0423a994a192a6039a280c118538328621	A 54-year-old man with @DISEASE$ referred to our institution presenting fever and @PHENOTYPICFEATURE$.	false
+d35d114c774ff58cbad38135726d5c3d17a96ad7	GPs diagnose @DISEASE$ in children without alarm symptoms and order diagnostic testing in one out of four children presenting with @PHENOTYPICFEATURE$.	false
+56d38dd39326e33de095d447d90f8beedeb2a160	A new category of @DISEASE$-associated @PHENOTYPICFEATURE$ may be indicated.	false
+b88a8ab29d68d98d5f2896f898efa69e92f1a17a	Extraintestinal manifestations, including congenital @PHENOTYPICFEATURE$, typical for Gardner's syndrome, were observed in the sisters with @DISEASE$ as the addition symptoms of the disease.	false
+02728550df52bd8f1181650f22e3477962d9f8ce	A 46-year-old man presented with a @PHENOTYPICFEATURE$ 17 years after a subtotal colectomy and 13 years after a partial duodenectomy for familial adenomatous polyposis (@DISEASE$).	false
+11bc05df0dbfe76b01f95576b86afab8147b594b	A 46-year-old man presented with a @PHENOTYPICFEATURE$ 17 years after a subtotal colectomy and 13 years after a partial duodenectomy for @DISEASE$ (FAP).	false
+521738922f3cdb7156671617fcf68e29984fdcf0	General indications of CE are obscure bleeding, iron deficiency anemia, Crohn disease, @PHENOTYPICFEATURE$, @DISEASE$, celiac disease and small bowel tumors.	false
+563a1053b608ad86a946038c8993fb077e6ad094	Mutations of @DISEASE$ and beta-catenin genes during progression of @PHENOTYPICFEATURE$ induced by N-nitrosobis(2-hydroxypropyl)amine in rats.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b4859978143c105ffef6cb1be66235c4ed466838	Since FGF8 maps to the same chromosomal region as FGFR2, has indeed been shown to be a ligand for FGFR2, and has an expression pattern consistent with limb and craniofacial anomalies, we have screened two kindreds with @DISEASE$ that were previously linked to markers from 10q24-25 and a large number of individuals with craniosynostosis and @PHENOTYPICFEATURE$ for mutations in the coding sequence of FGF8.	false
+4047b704a5ef20efa0f2a41dbc70e0b6ffc6ee5e	All mutations described so far for other craniosynostotic syndromes with associated @PHENOTYPICFEATURE$--Jackson-Weiss, Pfeiffer, and Apert--also occur in the extracellular domain of FGFR2, as well as FGFR1 for @DISEASE$.	false
+3f4a70314a7c642abd79e0906dd38c5fb1a8e5f3	A missense mutation was detected in one @DISEASE$ family in which two members had craniosynostosis without @PHENOTYPICFEATURE$.	false
+917aa7e62ad8ff6a946aba97a7c7e3e87800f5f1	@DISEASE$ is an autosomal dominant disorder classically characterized by craniosynostosis, facial dysmorphism and @PHENOTYPICFEATURE$.	false
+1d925d50435f622b1181929801fef5c64958a720	This recently described disorder is sufficiently characteristic to differentiate it from sebaceous nevus, nevus comedonicus, porokeratotic eccrine nevus, nevus corniculatus, follicular basaloid @PHENOTYPICFEATURE$, Munro's nevus and @DISEASE$.	false
+d46f661f18ca115689d724479b27ba602c0c8a81	Jejunal myoepithelial @PHENOTYPICFEATURE$ associated with @DISEASE$: a case report.	false
+fe3bd9bdbb701b35d30601b84b71b80fed168fb5	In hereditary adenomatosis of the large bowel (familial polyposis) extraintestinal manifestations of the disease are common: @PHENOTYPICFEATURE$, dental anomalies, soft tissue tumours, desmoid tumours etc. Patients with marked extracolic signs are described as patients with @DISEASE$.	false
+d077fa4b4f3096960b4f5a3cfc947cc8cbb74a88	The first group, syndromic-associated tumors, includes phosphase and tensin (PTEN)-@PHENOTYPICFEATURE$ tumor syndrome/Cowden syndrome, familial adenomatous polyposis/@DISEASE$, Carney complex type 1, Werner syndrome, and Pendred syndrome.	false
+0a850c1bde00740a1c0a8bf201ba3dfe8bce3bc2	In this study, in addition to the adenoma and adenomatosis (familial polyposis, @DISEASE$, Turcot syndrome), the @PHENOTYPICFEATURE$ (Peutz-Jeghers syndrome, juvenile polyp), inflammatory bowel diseases (ulcerative colitis, Crohn's disease, fistel ani and others) and the origin of the carcinoma were examined.	false
+22e6717b604805a7d435c2e34071ff3ce0df0e46	These examples include lentiginosis-related syndromes (e.g., Peutz-Jeghers syndrome, Carney complex), photosensitivity-related syndromes (Bloom syndrome, Rothmund-Thomson syndrome), and @PHENOTYPICFEATURE$-related syndromes (Cowden syndrome, multiple endocrine neoplasia syndrome, tuberous sclerosis complex, @DISEASE$, Muir-Torre syndrome).	false
+4daf024b5ba88c7b1f0fbfdf5aaae959907aa68e	Differential diagnosis mainly includes clear-cut severe diseases with a well-known etiology, such as @DISEASE$ and its variant erythema gyratum atrophicans transiens neonatale, erythema chronicum migrans and erythema marginatum rheumaticum, and diseases of unknown origin and with less clear limits, such as erythema annulare centrifugum and its variant familial annular @PHENOTYPICFEATURE$.	false
+8e7a60589403c91f05a059674be8422c0e87a83d	We describe a newborn with a phenotype consistent with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+175c8431bbd03c370272bab7d2454d512d1b14fd	Data from published literature are submitted together with findings from the author's studies on the condition of lipid peroxidation (LPO) and antioxidant system (@DISEASE$) in those patients with @PHENOTYPICFEATURE$ (HF) complicated by symptomatic arterial hypertension against the background of chronic pyelonephritis.	false
+102b80189360171adaaed5940f9995b42a3ce14c	@DISEASE$ associated with @PHENOTYPICFEATURE$: not a coincidence.	false
+43fb074d6c0da4ad80ba6ec7a76ca05188213642	@PHENOTYPICFEATURE$ in a Japanese girl with @DISEASE$: one of the most important complications.	false
+760c8525aa7a9db73889b89944a6d1b65c880338	All patients with @DISEASE$ (aplasia cutis congenita and terminal digital anomalies) should be evaluated for @PHENOTYPICFEATURE$.	false
+414cb6142b609c152a7356acdc4deff484a69d09	A literature review revealed at 13.4% occurrence of congenital cardiac malformations in individuals with @DISEASE$, suggesting that @PHENOTYPICFEATURE$ are a frequent manifestation of this syndrome.	false
+bd8e435fc86e3557b4ad45689de5c957c85120f0	Adams-Oliver syndrome (@DISEASE$, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as @PHENOTYPICFEATURE$.	false
+f43b6bf86218bc9fa5a89e9f235a3ca636ce2120	@DISEASE$ (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as @PHENOTYPICFEATURE$.	false
+4912987d19f9b63eff6f330feac4f141189514c5	Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+3ef817af8d029b584f43854ef8677dc2764c2d0d	A child with severe S-adenosylhomocysteine hydrolase (AHCY) deficiency (AHCY c.428A>G, p.Tyr143Cys; c.982T>G, p.Tyr328Asp) presented at 8 months of age with growth failure, @PHENOTYPICFEATURE$, global developmental delay, myopathy, hepatopathy, and @DISEASE$.	false
+a1a3dcebe01291278a4bc854c5ff1ef463c41c09	A 9 year-old boy presented to our clinic with @DISEASE$, @PHENOTYPICFEATURE$, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils.	false
+9fbcb37ce0eaeff2325de6ae21c33c055275dbc4	MPP1/p55 gene deletion in a @DISEASE$ patient with @PHENOTYPICFEATURE$ and severe developmental defects.	false
+5d0c5076005376ece2d5a73ff01f27e8557c3362	@PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+9b61f1125acc33e500f9031c4bd8c3c813d698b8	According to our case we consider the false clinical picture of 'tense ascites' of our patient as a rare clinical presentation of decompensated liver cirrhosis, with severe @PHENOTYPICFEATURE$ of mesenterium and viscus, on the grounds of preexisting portal vein thrombosis, in a patient with combined @DISEASE$ and thrombophilia V Leiden.	false
+d471d7bc39ed58007e547242315e73e4fa979557	Ion channel dysfunction can cause endocrine disorders or endocrine-related manifestations, such as pseudohypoaldosteronism type 1, @DISEASE$, Bartter syndrome, persistent hyperinsulinemic hypoglycemia of infancy, neonatal diabetes mellitus, cystic fibrosis, Dent's disease, hypomagnesemia with secondary @PHENOTYPICFEATURE$, nephrogenic diabetes insipidus and, the most recently genetically identified channelopathy, thyrotoxic hypokalemic periodic paralysis.	false
+e04153e662684521c8c5d6a5e908680628eaafe9	@DISEASE$, triamterene crystallization, nephrocalcinosis, chronic renal failure and @PHENOTYPICFEATURE$.	false
+c9d3602a5625afa8ce60cc44fe134027d8a254f6	The molecular mechanisms underlying both @DISEASE$ and @PHENOTYPICFEATURE$-related hypertension are different (i.e.	false
+3768785c51ec811df997ecd0a8c57fb7b083737f	Correction of cavovarus @PHENOTYPICFEATURE$ in @DISEASE$.	false
+fd462fd3d0038312ee581d6fd8c4229e9173efd4	@DISEASE$ (CMT) causes disabling cavovarus @PHENOTYPICFEATURE$.	false
+5a49ba2189d43c338aedf5b622ee264f37fab01c	Cavovarus @PHENOTYPICFEATURE$ is common in patients with @DISEASE$.	false
+b108fcfce0d37810ece7acff6713f3807e77df3b	Charcot-Marie-Tooth (@DISEASE$) disease is characterized by hereditary sensorimotor polyneuropathy with foot deformity, @PHENOTYPICFEATURE$, moderate developmental delay, and gait disturbance.	false
+9b8b0714f66cdf9c0922f4c8e36236c08b9d7a40	Charcot-Marie-Tooth (@DISEASE$) disease is characterized by hereditary sensorimotor polyneuropathy with @PHENOTYPICFEATURE$, sensorineural hearing loss, moderate developmental delay, and gait disturbance.	false
+2bd286f25a94fc074c024930b301cfa7fb9774ef	The characteristic equinovarus @PHENOTYPICFEATURE$ patterns in @DISEASE$ patients were revealed and these deformities tended to be worse with disease severity.	false
+fddceec298b5efb6e98c607e8ac0651d7872be54	The characteristic @PHENOTYPICFEATURE$ foot deformity patterns in @DISEASE$ patients were revealed and these deformities tended to be worse with disease severity.	false
+2e38b4c7bdee4bc86ceb398fd02adb0c4756f447	Clinical presentations in @DISEASE$ children were walking difficulty and @PHENOTYPICFEATURE$.	false
+451ff8acbf3c00b096877ee317753229cb1a594a	Operative treatment algorithm for @PHENOTYPICFEATURE$ in @DISEASE$.	false
+74269c8aef8f954b0f4add41bc42d838c360bd9b	Operative treatment of the @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a21d507112b89a26a71ca945529b66671837f783	Surgical outcomes of cavovarus @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+f7d32d9e304460d9ec41982f41cada087c347291	Currently, the most common causes of cavus deformity seen in our series were the sequelae of idiopathic @PHENOTYPICFEATURE$ equinus varus clubfoot, congenital metatarsus varus, and assorted neuromuscular disorders, including @DISEASE$, cerebral palsy, and arthrogryposis.	false
+c1c488149e551657d5e5a02a6d8a9d15f4e7feee	Currently, the most common causes of cavus deformity seen in our series were the sequelae of idiopathic talipes equinus varus @PHENOTYPICFEATURE$, congenital metatarsus varus, and assorted neuromuscular disorders, including @DISEASE$, cerebral palsy, and arthrogryposis.	false
+b69ef809ce30ee24c6fbd5bc5a146251a3a68f16	Our study included more than 700 Polish parents from a diverse educational background who had children with disabilities, including mild @PHENOTYPICFEATURE$ (MID) and hearing impairment (@DISEASE$), or typically developing children.	false
+40442272feb903df28d5e11b46738f97c7a2b519	The incidences of @DISEASE$ and @PHENOTYPICFEATURE$ are negatively related.	false
+d28ce5c212ce822357b47e25a1098ffc4094086f	We report an extremely rare case of a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$ due to gross abnormalities affecting both middle ear and cochlea.	false
+ec40b0e106a16eeb5d72ad869d78fb857c69b11a	The percent prevalence of @PHENOTYPICFEATURE$ and @DISEASE$ in males for the three ethnic groups were apparently quite similar.	false
+6ddb8cf72d291958207585ee4e82fa82d3d0f598	Prevalence of @PHENOTYPICFEATURE$ and chronic energy deficiency (@DISEASE$) in adult Malaysians.	false
+d3f49e38eb94e6a8250d05bd1b4201e2cebef0b4	We investigate the nutritional status of women in India and its relation to the prevalence of chronic energy deficiency (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+736adc9542f28201a5369195460e7eb24ed72c82	This study attempts to understand the factors associated with chronic energy deficiency (@DISEASE$) and overweight/@PHENOTYPICFEATURE$ together with change in CED and overweight/obesity among urban Indian women during 1998-2006.	false
+a397344a9ec7da5f76d8c66e2c5fb3ecdbe1b27d	This study attempts to understand the factors associated with chronic energy deficiency (@DISEASE$) and overweight/obesity together with change in CED and overweight/@PHENOTYPICFEATURE$ among urban Indian women during 1998-2006.	false
+e21e2a2d4053f28f2b9f407ddb0a847db413a399	This study attempts to understand the factors associated with chronic energy deficiency (CED) and overweight/obesity together with change in @DISEASE$ and overweight/@PHENOTYPICFEATURE$ among urban Indian women during 1998-2006.	false
+7b6ab4858686799604d559d2be5ba4a4c8104d1f	This study attempts to understand the factors associated with chronic energy deficiency (CED) and overweight/@PHENOTYPICFEATURE$ together with change in @DISEASE$ and overweight/obesity among urban Indian women during 1998-2006.	false
+9ae75b497b24fe09b2bc72dc217939d74d385192	The data reveal that the prevalences of @DISEASE$, overweight, and @PHENOTYPICFEATURE$ in India are 31.2%,	false
+f9950158191f83d97e442b635990744af0f0959f	Compared with a national sample of Indigenous Australians, our sample has a higher prevalence of @DISEASE$ and a lower prevalence of @PHENOTYPICFEATURE$.	false
+414beea750447705837f8cd0033d9d5ae6683390	Generalized Estimating Equation (GEE) was used to assess the maternal nutrition conditions, including chronic energy deficiency (@DISEASE$) and overweight/@PHENOTYPICFEATURE$.	false
+7a03d93f990952f9b8ebb9beeccd5ab3b47a0859	The prevalences of @DISEASE$ and @PHENOTYPICFEATURE$ were also compared to the corresponding values from a national Indigenous sample.	false
+6dbd469acddcadcb7389b89caf819b10d46b228a	The leading anomalies included cleft lip, @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, hydrops fetalis, trisomy 21 and cystic hygroma.	false
+b9fcceeb80c587c4616eedfc20a939368fe74e72	In four counties of Shanxi province, the prevalence rates of @DISEASE$, spina bifida, hydrocephaly, @PHENOTYPICFEATURE$ alone and polydactyly were significantly higher than in Wuxi areas.	false
+1f5d99434fa1bfee07052d09753fac4b77e0f5d0	The malformations used to illustrate these approaches are @PHENOTYPICFEATURE$, @DISEASE$, hydrocephalus, and intestinal atresia.	false
+68b8ed403d244987d5e6d4e02befe62bf2c21325	Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with @PHENOTYPICFEATURE$, cleft lip without cleft palate, @DISEASE$, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6).	false
+c92824c9d1a944ae0fd66f84ee6a0c13518be4ad	Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, @PHENOTYPICFEATURE$, cleft lip with cleft palate, cleft lip without cleft palate, @DISEASE$, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6).	false
+8773c07784cdfceee290f0c5ca06e52dc7024b9d	Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without @PHENOTYPICFEATURE$, @DISEASE$, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6).	false
+d9d5b464a3893105ca71a52ee6d3d94e63e6ce6d	The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and @PHENOTYPICFEATURE$, oral clefts, defects of cardiac septa, and @DISEASE$.	false
+f4335d3944b8bad9d209bc6f429fa0f8511948e9	Microcephaly, sloping forehead, posterior occipital exencephalocele, @PHENOTYPICFEATURE$, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly and @DISEASE$ constituted a broad spectrum of the reported CNS anomalies.	false
+77d7eab0ab2d5f5fd38b11033d167636eb1cfabe	Cases of @DISEASE$, @PHENOTYPICFEATURE$ and anomalies of the central nervous system were found in both populations.	false
+0a5fc1837b73b7947446b1fe27a5c8f51ee9aa14	In cases of @DISEASE$ other associated malfor-mations like spina bifida and @PHENOTYPICFEATURE$ are commonly seen.	false
+a95ed7e515ab66fb21437efe3f2b4183c741dd39	Analyses included 73 cases with @DISEASE$, 123 with spina bifida, 277 with CLP, and 117 with @PHENOTYPICFEATURE$ only in addition to 785 controls.	false
+bb0e48e26d41bc55eca7afa77db4e1f942a6e829	Brain hernia, @DISEASE$, @PHENOTYPICFEATURE$ and skeletal abnormalities were found in group IV and its incidence was significantly higher than the other 3 groups.	false
+4dea28d1009e15698e9339a5f7ed8455cd8fa75f	Antibodies against @DISEASE$ cells are more prevalent in RA patients with @PHENOTYPICFEATURE$ than in RA patients without peripheral nerve involvement.	false
+bdc718fd3da9d8d90dc0457e0c0b0ab5bdc6ea8c	To investigate the prevalence of antibodies to @DISEASE$ cells in patients with rheumatoid arthritis (RA) complicated by @PHENOTYPICFEATURE$ (PN), and to determine whether there is any relationship of these antibodies with the severity of neuropathy.	false
+914d3a6e64bb2da2ccc946b7027b06ef97d90209	Opsoclonus-myoclonus syndrome is a very rare disorder with onset usually in the second year of life, and the clinical features of opsoclonus, myoclonus, ataxia, irritability, @PHENOTYPICFEATURE$, and, often but by no means invariably, an associated @DISEASE$.	false
+d6223b698a91468d6871039455c94197bb022a4f	All 18 NSNs in OD were of glial cell origin, but only 5 of 9 NSNs in Maffucci syndrome were glial; other tumors included pituitary adenoma, olfactory @DISEASE$ @PHENOTYPICFEATURE$, and spindle cell hemangioendothelioma. Patients with OD were more than 10 years younger than their Maffucci syndrome counterparts (24.7 versus 34.9 years; P = 0.002), as were patients with OD and chondrosarcoma versus those with Maffucci syndrome and chondrosarcoma (24.7 versus 36.2 years; P = 0.035).	false
+a81ca1367691802153f3790822fb67d88f9a7272	Stage IV-S metastatic @DISEASE$ presenting as @PHENOTYPICFEATURE$ at birth.	false
+2b4c7142b930a10b977c27fbd9e59a0429cabcfa	Primary tumors included rhabdomyosarcoma, @DISEASE$, tumors of the Ewing sarcoma family, non-Hodgkin lymphoma, and malignant @PHENOTYPICFEATURE$.	false
+4f3e47f560e7eceb3d4856e01b5d1a6388d90418	Among the kindred with a history of @DISEASE$ type II, only the six heterozygous carriers who had a longer TATAA element on the structurally normal allele had mild @PHENOTYPICFEATURE$, characteristic of Gilbert's syndrome.	false
+42dd2ab8eefd9dc231eb7ef83fe5c4544a78139c	Urinary microbiota in patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a0ec5c6be3b07901b4cd4777f29a1e1d44d222a6	A clinical data was studied for 117 males without complaints for copulative disorders admitted to urological clinic electively for @DISEASE$ (BPH)--44 (37.6%), urolithiasis--25 (21.4%), external genital diseases--17 (14.5%), @PHENOTYPICFEATURE$ and hydronephrosis--16 (13.7%), renal and vesical tumors--15 (12.8%).	false
+a1f7e22eab66f97435896c2e9cb8155ed049636a	In the present study, we investigated the type of microbiota in the expressed prostatic secretions (EPS) of patients with @PHENOTYPICFEATURE$ and @DISEASE$ (BPH) by the polymerase chain reaction-denaturing gradient gel electrophoresis (PCR-DGGE) method using universal bacterial primers.	false
+ee6a5a43dc5090b1588d2f929146e4684fc96956	However, the exact association between microbiota in urine, seminal fluid and the expressed prostatic secretions and @DISEASE$ and @PHENOTYPICFEATURE$ is not clear.	false
+9eb2cd1aaad98218c7a74be01b28d9fc4a7bb47d	Twenty patients had squamous cell carcinoma of the urinary bladder in association with urinary bilharziasis, and all were under the age of 40 years, Other causes of haematuria included glomerular diseases in 31 patients, malignant renal tumours in 11, benign @PHENOTYPICFEATURE$ in five, while it was due to @DISEASE$ in 31 patients, vesical calculi in 16, cystitis in nine and urethritis in nine patients.	false
+5944415167cf22b3fb001d3bee263c1f55d76cbc	A comprehensive cellular anatomy of normal human prostate is essential for solving the cellular origins of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cdc5753a5f62cd3d4127c2bf74d70d240d0b5cc6	A 56-year-old man with a history of uncontrolled type 2 diabetes mellitus, @DISEASE$ and history of recent knee and elbow abscess presented to the emergency department with nausea, @PHENOTYPICFEATURE$, and fevers.	false
+c48c498160cde399530fd81ea8bf6a4bf6c7b207	As the central regulator of the cascade, gonadotropin-releasing hormone (GnRH) agonists and antagonists have found extensive applications in treating a wide range of hormone-dependent diseases, such as precocious puberty, @PHENOTYPICFEATURE$, @DISEASE$, endometriosis and uterine fibroids, as well as being an essential component of in vitro fertilization protocols.	false
+a7dc7e0383ed560b1a6b0c2b91507ce51d3c795f	An 89-year-old non-diabetic man with @DISEASE$ and neurogenic bladder presented at our hospital with fever and lower @PHENOTYPICFEATURE$.	false
+0265aea9aed44aa26a5376cf5e3128c413c9f86e	The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f5dcadccd5e6a6545807a77f75106e7c02a786ea	We describe a case of @DISEASE$ in a 7-year-old boy, presenting with epilepsia partialis continua, hemiplegia, and @PHENOTYPICFEATURE$.	false
+722a811900ed76ab82a701eebe82bcdeeafbfc1f	@DISEASE$ is a rare unilateral devastating disease with childhood onset that can also occur in adulthood, characterized by intractable epileptic seizures associated with @PHENOTYPICFEATURE$ and unilateral progressive atrophy.	false
+ba455428709fe4086fc40eca924820abb0122738	@DISEASE$ (GISTs) are characterized with diverse clinical presentations, including acute and chronic gastrointestinal bleeding, @PHENOTYPICFEATURE$, presence of an intra-abdominal mass, anorexia, and intestinal obstruction.	false
+e9fbaf7f5329c6c32071f3ca2a91dfb1a95f2d6b	There was 60.3% (47/78) patients with @PHENOTYPICFEATURE$, 7.7% (6/78) patients with hematochezia or melena, and 98.7% (78/79) with small @DISEASE$' mitotic count ?5/50 HPF.	false
+e319683d4a6d52a45e4af39e0cd21c6877a73d45	Patients were diagnosed with histiocytic sarcoma (n = 1), malignant lymphoma (n = 2), mammary carcinoma (n = 4), sertoli cell tumor (n = 1), @DISEASE$ (GIST) (n = 1) and @PHENOTYPICFEATURE$ (n = 1).	false
+161306bd3890cc49ee8cf90c23d4bdce220e9bca	A 34-year-old man, who had undergone the gastrectomy for @DISEASE$ (GIST) and para-aortic paraganglioma 3 years before, was found to have a left @PHENOTYPICFEATURE$ on a computed tomography.	false
+0bac95387cf7fc4d2bd2766e5bdae00a12cb19c1	We present a case of a 61-year-old woman presenting with epigastric abdominal pain and @PHENOTYPICFEATURE$, diagnosed with intussusception secondary to @DISEASE$.	false
+a0e1e26918561e17188a3d9c10960927a35856d4	A 65-year-old female patient with a history of abdominal surgery for @DISEASE$ presented with @PHENOTYPICFEATURE$, weakness, weight loss, and vomiting.	false
+0be28103d9f9c21ec3fe738eb81b3890573932a0	The symptoms of @DISEASE$ depend on the site and size of the tumor, and may include @PHENOTYPICFEATURE$, gastrointestinal bleeding or signs of obstruction; small tumors may, however, be asymptomatic.	false
+97f774e76f94f54cbec686e83b632da4befc2ab4	We present the radiological and intraoperative correlation of a large necrotic @DISEASE$ (GIST) with features of a tumor-bowel fistula and perforation in a 49-year-old woman presenting to the emergency department with a 4-day history of worsening abdominal pain, @PHENOTYPICFEATURE$, and diarrhea.	false
+0e36b82bcefbd693a7d711a11b5cfc0f9d0b2180	@DISEASE$ perforation in a case with neurofibromatosis presenting with @PHENOTYPICFEATURE$.	false
+ffc2c59de2d3f9ed325dde92f947200863987228	@DISEASE$ (GISTs) are mesenchymal neoplasms most frequently found in the stomach and presenting without symptoms or with unspecific ones such as hemorrhage and @PHENOTYPICFEATURE$.	false
+2b5dbd5d234bf6670c610a1cf3c32ea3b51a82c9	These conditions included (1) a patient with @DISEASE$, (2) a patient with Ehlers-Danlos syndrome, (3) two patients with benign external @PHENOTYPICFEATURE$ of infancy, and (4) a patient with Crohn's disease, who was evaluated for sexual abuse because of chronic abdominal pain.	false
+e070531d99f436dea2692675f438d07e6d05fc93	The ECG manifestations of @DISEASE$ are often dynamic or concealed and may be unmasked or modulated by sodium channel blockers, a febrile state, vagotonic agents, alpha-adrenergic agonists, beta-adrenergic blockers, tricyclic or tetracyclic antidepressants, a combination of glucose and insulin, hypo- and @PHENOTYPICFEATURE$, hypercalcemia, and alcohol and cocaine toxicity.	false
+e070531d99f436dea2692675f438d07e6d05fc93	The ECG manifestations of @DISEASE$ are often dynamic or concealed and may be unmasked or modulated by sodium channel blockers, a febrile state, vagotonic agents, alpha-adrenergic agonists, beta-adrenergic blockers, tricyclic or tetracyclic antidepressants, a combination of glucose and insulin, hypo- and @PHENOTYPICFEATURE$, hypercalcemia, and alcohol and cocaine toxicity.	false
+80ac3f73c0947a4438ded8ddf0cd8705ede1b4d9	Most frequent diagnoses were: essential tremor (89 patients), hereditary sensory-motor neuropathy (HSMN) type I (28), Huntington's chorea (13), progressive muscular dystrophy limb-girdle type (8), neurofibromatosis type I (9), HSMN type II (9), spinocerebellar ataxia (9), hereditary spastic paraplegia (7), @DISEASE$ (5), myotonic dystrophy (5), @PHENOTYPICFEATURE$ (4), HSMN type III (4), spinal muscular atrophy type II and III (3), tuberous sclerosis (3).	false
+16981e3c88640e2065ba3f7330eed9c76e1efe5a	Most frequent diagnoses were: essential tremor (89 patients), hereditary sensory-motor neuropathy (HSMN) type I (28), Huntington's chorea (13), progressive muscular dystrophy limb-girdle type (8), neurofibromatosis type I (9), HSMN type II (9), spinocerebellar @PHENOTYPICFEATURE$ (9), hereditary spastic paraplegia (7), @DISEASE$ (5), myotonic dystrophy (5), cerebellar ataxia (4), HSMN type III (4), spinal muscular atrophy type II and III (3), tuberous sclerosis (3).	false
+f2ce10d2cbff76e03e3659c6331b41854e001945	@DISEASE$, hypoplastic type associated with some @PHENOTYPICFEATURE$: a case report.	false
+d045020d9c69ad92008cb52749d7c2ef76a7366b	These patients were examined for 8 developmental @PHENOTYPICFEATURE$: fusion, gemination, microdontia, macrodontia, oligodontia, hypodontia, hyperdontia, and @DISEASE$.	false
+475387c9507f1028e4a94b2d7315bae10722e4e9	@DISEASE$, a group of hereditary conditions primarily affecting the enamel, has been associated with @PHENOTYPICFEATURE$, including taurodontism, congenitally missing teeth, delayed eruption, crown resorption, and abnormal enamel density.	false
+584f877e6acd1e7869252316f89ca961a3081c86	These patients were examined for the following developmental @PHENOTYPICFEATURE$: shape anomalies (microdontia, talon cusp, dens evaginatus, fusion, taurodontism), number anomalies (hypodontia, oligodontia, anodontia), structural anomalies (@DISEASE$, dentinogenesis imperfecta) and positional anomalies (ectopic eruption, rotation, impaction).	false
+9f61a1e1ef2943e5fd19e4625c06c23fdff813d8	The aims of this study are to present sociodemographic and familial characteristics, clinical and systemic findings, dental treatment needs, and concomitant @PHENOTYPICFEATURE$ in patients with @DISEASE$ (AI) and to evaluate time-varying conditions in these long-term follow-up patients.	false
+29a796f41ad66f7d19c177a42edb0757d005f218	Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, @DISEASE$, hypoplastic type, gingival fibromatosis and other @PHENOTYPICFEATURE$, including hypodontia and unerupted teeth with large dental follicles.	false
+f16c8dc766136360c7e37f6f4ccd1d9f3c94b492	Among these genes, FAM20A mutations are associated with @DISEASE$ (AI) with gingival hyperplasia and nephrocalcinosis, while FAM20C mutations cause Raine syndrome, exhibiting bone and craniofacial/@PHENOTYPICFEATURE$.	false
+e1ce545bd66ff7fc69467b33d4ffbba55383c7b5	Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, spasticity, epilepsy, and @DISEASE$.	false
+6812e5e0b60ddb1afbb79fa901c88b7931e341af	Chemotherapy administered during childhood may induce @PHENOTYPICFEATURE$, such as acquired @DISEASE$, microdontia, hypodontia and altered root morphology.	false
+a6300050846bb38f43d6ccefa6f68035a268d4fc	@PHENOTYPICFEATURE$ were divided into four types: (a) shape (including fusion, taurodontism, and dens invagination); (b) number (including hypodontia, oligodontia, and hyperdontia); (c) structure (including @DISEASE$, dentinogenesis imperfecta, and dentin dysplasia); and (d) position (including displacement, impaction, and dilacerations).	false
+8004a8c651e8b4858d47c0a28cd17c5f79c15e3e	Regarding unique symptoms in each case, @DISEASE$ found only in Case 1 may be caused by KIF21A deletion and hearing loss and @PHENOTYPICFEATURE$ in Case 2 by COL2A1 defect.	false
+0790be33792f076444625ed797cce71558dbc426	The electrical impedance of a pulmonary mass was measured in 53 patients of whom 44 had primary lung cancer, 5 had metastatic @PHENOTYPICFEATURE$, and 4 had @DISEASE$.	false
+725c6b2e026d0c912119b3ad8c7247115925f727	We analyzed 33 cases of typical Schmid @DISEASE$ from the International @PHENOTYPICFEATURE$ Registry, looking specifically for any radiographic evidence of spinal involvement.	false
+31cd0dcebeb5af103d97da93e55b43190501b050	There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial @PHENOTYPICFEATURE$, FJN) or by adult onset dominant inheritance (medullary cystic disease, @DISEASE$) and share similar clinico-pathological presentation to the extent that they are usually grouped together under the term FJN/MCD complex.	false
+bb84d989619ffc3384b1036722fedf2be9338c8f	There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial @PHENOTYPICFEATURE$, FJN) or by adult onset dominant inheritance (medullary cystic disease, MCD) and share similar clinico-pathological presentation to the extent that they are usually grouped together under the term FJN/@DISEASE$ complex.	false
+91f8615d9be6e6099fdc337a6f263643eb9c578c	The prevalence of systemic mast cell disease (@DISEASE$) is unknown, and the diagnosis is often elusive because serum and urine markers may become positive only after one of the self-limited, recurrent @PHENOTYPICFEATURE$ episodes.	false
+6966bb2078aed480c50b52d6693fabff6b9ea3f0	@PHENOTYPICFEATURE$ and Ki67 immunopositivity were less prominent in the MCD+BET group compared with the @DISEASE$ group.	false
+ac41989c2ded78f771a5d3aa1e1a7e9098bba17c	We reviewed the radiographs of Schmid @DISEASE$ patients at the International @PHENOTYPICFEATURE$ Registry in Los Angeles for evidence of hand involvement.	false
+ce9ad28c54ff9d3e74bfdd7675ce3fc19394e0bd	@PHENOTYPICFEATURE$ response was quantified by metastatic control (@DISEASE$(37%)).	false
+aa9047327145589ef26d512d1c96616db23212a1	Moreover, immunoactivation in low @DISEASE$ @PHENOTYPICFEATURE$ may contributed to improved prognosis.	false
+a5e68a41e11de7dea8d9d0f4b34638dda95b87b7	Diagnosis of medullary cystic disease (@DISEASE$) was made based on typical ultrasound appearance, sodium wasting and acidosis out of the proportion to the degree of @PHENOTYPICFEATURE$.	false
+4f445ec8582ddc623f0007bb0b9b5369a88bae52	Medullary cystic disease (@DISEASE$) is an uncommon renal disease with adult onset and autosomal inheritance, eventually progressing to terminal @PHENOTYPICFEATURE$.	false
+c4801eb923cbf65b5ba73ed910f27cf46471f05e	@PHENOTYPICFEATURE$ and expression of genes involved in fatty acid metabolism were attenuated in miR-155 KO mice after @DISEASE$ feeding.	false
+977df2bd5503182ec8af3b0507490a60b08f79cd	An @DISEASE$ syndrome with upward gaze palsy, neuropathy, and @PHENOTYPICFEATURE$.	false
+2bf9c9d3d525129dc95b522630a1a6d64378d94f	A 36-year-old female developed bone marrow failure diagnosed as myelodysplastic syndrome (@DISEASE$) (Sidebar), followed shortly by a @PHENOTYPICFEATURE$ and a gait disturbance.	false
+6349fd3c1d06a28825e15b42b02f57b88623b3df	Neither the prevalence of @PHENOTYPICFEATURE$ nor its association with fatigue and overall survival (OS) are well understood for patients with myelodysplastic syndromes (@DISEASE$).	false
+34041f19e4bfe4f038f0894ebfa128a48ef3d274	Serum Epo titer was inversely correlated with hemoglobin concentration in iron deficiency anemia, aplastic anemia, myelodysplastic syndromes (@DISEASE$), acute leukemia, malignant lymphoma, multiple myeloma and @PHENOTYPICFEATURE$, but there was no correlation between serum Epo titer and hemoglobin concentration in chronic myelogenous leukemia or polycythemias.	false
+c6708d02b09fce4a006cd0600a69f2177df1f98f	AbTG: Anti-thyroglobulin antibodies; AbTPO: Anti-peroxydase antibodies; AML: Acute myeloid leukemia; APRIL: A proliferating-inducing ligand; BAFF: B-cell activating factor; CAPA: Canadian Arthritis Patient Alliance; CI: Confidence interval; CIN: Cervical intraepithelial neoplasia; CT: Computed tomography; DLBCL: Diffuse large B cell lymphoma; dsDNA: Double-stranded DNA; EBV: Epstein-Barr virus; EULAR European League Against Rheumatism; IBD: Inflammatory bowel disease; HBV: Hepatitis B virus; HCV: Hepatitis C virus; HIV: Human immunodeficiency virus; HR: Hazard ratio; HSIL: High-grade cervical squamous intraepithelial lesions; HSV: Herpes simplex virus; HL: Hodgkin lymphoma; HPV: Human papillomavirus; MALT: Mucosa-associated lymphoid tissue; @DISEASE$: Myelodysplastic syndrome; MESNA: 2-mercaptoethane sodium sulfonate; NHL: Non-Hodgkin lymphoma; OR: Odds ratio; Pap: Papanicolaou; RA: Rheumatoid arthritis; SLE: Systemic Lupus @PHENOTYPICFEATURE$; SLICC: Systemic International Collaborating Clinics; SNPs: Single-nucleotide polymorphisms; SOGC: Society of Obstetricians and Gynaecologists of Canada.	false
+ab49d34dc051b2423fb6e76aec46d5ec226c3c09	Clinicians should aggressively evaluate patients with fever and @DISEASE$ for infection, especially pneumonia and @PHENOTYPICFEATURE$.	false
+14a7b333ea11f42fc95e258215677b1289faf21a	A 63-year-old Japanese man with @DISEASE$ was admitted to our hospital because of a large @PHENOTYPICFEATURE$ on his neck in November 2001.	false
+ea2e830686ba11a6d0dd97bbd85de8f1037fc110	We conclude that Tlr4- and/or @DISEASE$ fail to ameliorate @PHENOTYPICFEATURE$, and other pathways may be involved.	false
+4cc74ad00a673ba0ef83e7bf3cb85ef654fd9967	This syndrome of adrenal insufficiency, achalasia, alacrima, @PHENOTYPICFEATURE$, and peripheral neuropathy is different from either @DISEASE$ or adrenoleukodystrophy.	false
+a4714d653d64cd36222cd8a992da60d24b837b3c	Affected individuals also had the @DISEASE$, midface hypoplasia, short stature, @PHENOTYPICFEATURE$, and hypotrichosis.	false
+3ce7cfe179ddbcced9558d279ce545a90e9132ed	@PHENOTYPICFEATURE$ in the WBN/Kob rat with @DISEASE$ and spontaneous diabetes.	false
+9ca9062ed8ac568863b6bc482fce37673a611325	In addition, ethanol-related diseases such as liver disease, @DISEASE$, cardiomyopathy, myopathy and @PHENOTYPICFEATURE$ were ruled out in all patients.	false
+6b6e8687ad2751c9aca1dd11ed467e75832266c7	Important complications of alcoholism were modelled using Markov processes, and included relapse (return to drinking), alcohol-related hepatic disease, acute and @DISEASE$, acute and chronic gastritis, oropharyngeal carcinoma, oesophageal carcinoma, alcoholic cardiomyopathy, alcohol-related @PHENOTYPICFEATURE$, alcoholic psychosis, accidental death, and suicide.	false
+b9e506d090dc49ae31e85a1d71736be8040d9728	[Migrating cutaneous @PHENOTYPICFEATURE$ with superficial epidermal necrosis in the course of @DISEASE$].	false
+6a119a1ac6722644d309ab4293539096f0f9a06f	The @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d6bf27b8ad4d04085f00c351c5c97905e6aa2916	@DISEASE$ is an autosomal recessive skeletal dysplasia characterised by generalised @PHENOTYPICFEATURE$, predominantly in the skull and mandible.	false
+b684cf67f0a894679941d9abaeab94972c768d51	Recently, SOST (sclerostin) was identified as a potent osteocyte expressed negative regulator of bone formation in vitro, in murine models and in patients with the @PHENOTYPICFEATURE$ disorders Sclerosteosis and @DISEASE$.	false
+1a6b4a38af226c5da6b8ed8a9a6c304a0a4a9c50	The bone density increases with age, but in spite of this the clinical course if milder than in recessive type of generalized cortical @PHENOTYPICFEATURE$ (Van Buchem's disease, as reported in the 35 cases of @DISEASE$ (dominant type) previously described.	false
+c4a54d7ebc2d21b44fe7f94391606ea47a9f7e01	Generalized cortical @PHENOTYPICFEATURE$ (@DISEASE$): nosologic considerations.	false
+39089e2799c4803a8ebe58ed533bab9c51bf44cc	Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endochondral bone formation: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis, enostosis, osteopoikilosis, osteopathia striata (Voorhoeve disease); (b) dysplasias of intramembranous bone formation: progressive diaphyseal dysplasia (Camurati-Engelmann disease) and variants, @PHENOTYPICFEATURE$ corticalis generalisata (@DISEASE$) and variants; and (c) mixed sclerosing dysplasias: melorheostosis (Leri disease) and overlap syndromes.	false
+01b4827d1b5972df0583079e8854b238aa24d784	@DISEASE$ is an autosomal recessive sclerosing bone dysplasia characterized by skeletal @PHENOTYPICFEATURE$, overgrowth of the mandible, and a liability to entrapment of the seventh and eighth cranial nerves.	false
+2e70ed4e604d4486600a35683b568cd561d95aaa	Lack of SOST expression is the cause for the progressive @PHENOTYPICFEATURE$ disorders sclerosteosis and @DISEASE$.	false
+217a67170f029f02c495a81576d6e5752e1d1cca	In this article, we review three rare skeletal disorders with case descriptions, pycnodysostosis and the craniotubular @PHENOTYPICFEATURE$ sclerosteosis and @DISEASE$ that led to the development of cathepsin K and sclerostin inhibitors, respectively, for the treatment of osteoporosis.	false
+a527363d8762debd7217a0247a2bb42b8a08fbd6	Two surgical cases of thymic @DISEASE$ associated with @PHENOTYPICFEATURE$: possible association with Sj?gren's syndrome.	false
+128d3d10baee07614da7e602090e9e731f4ceecd	Pulmonary crystal-storing histiocytosis and @DISEASE$ associated with a fibroleiomyomatous @PHENOTYPICFEATURE$.	false
+f3567d34457ae2b2cd882b0294f6dca95a558436	Herein, we demonstrate two surgical cases of thymic @DISEASE$ associated with @PHENOTYPICFEATURE$ and the characterization of this rare tumor.	false
+05918103ea7fcec0a7c2b902c55c10e2ce489c45	Frank-Ter Haar syndrome (FTHS), @DISEASE$ (WS), and multicentric osteolysis, nodulosis, and arthropathy (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and @PHENOTYPICFEATURE$, and dermal fibrosis.	false
+6bc9b00f6f115cdeff696a30b2e3b25fceb94fba	@DISEASE$ is a rare autosomal recessive disorder which is characterized by @PHENOTYPICFEATURE$, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity.	false
+e3b7e94ffb0b8f8e3da3ad684da32c01e16113bf	Mutations in MKKS cause obesity, retinal dystrophy and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+c8ed16c3518e1462ee20f622270dab8fd2acc9b7	We report an increased prevalence of @PHENOTYPICFEATURE$ and renal cell carcinoma in the unaffected relatives of BBS patients and suggest that these may be a consequence of heterozygosity for @DISEASE$ genes.	false
+041add54fee950263b2dd8dd739ea35bd527e582	We report an increased prevalence of @PHENOTYPICFEATURE$ and renal cell carcinoma in the unaffected relatives of @DISEASE$ patients and suggest that these may be a consequence of heterozygosity for BBS genes.	false
+fb5ceb76f6644c9b3f0705a768cb82ad7bf4955f	Bardet-Biedl syndrome (@DISEASE$, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+1f55cb4987fd1f40b082f223c4478bb3740b335a	@DISEASE$ (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+64cb44dc3ce2db6560329f558d745d4bd3c46ae4	The patient showed neither @PHENOTYPICFEATURE$ nor dysfunction, and visual impairment seemed to be relatively mild for @DISEASE$.	false
+49b1a052ccf629ace5043d3c32993f37523cc3c7	@DISEASE$ (BBS) is a genetically heterogeneous, autosomal-recessive disorder associated with several clinical features including obesity, hypertension, and @PHENOTYPICFEATURE$.	false
+bcb45e1d9a5fea6e37cc73ae58349d15d476fea5	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous, autosomal-recessive disorder associated with several clinical features including obesity, hypertension, and @PHENOTYPICFEATURE$.	false
+dd7c774c60f14b038bf6e46c9fb9dbe4daa5a09c	@DISEASE$ (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, @PHENOTYPICFEATURE$ and learning disabilities.	false
+a64c079ca6a02b9ef0dea9fb1aa1e0f99ece4d69	Bardet-Biedl syndrome (@DISEASE$) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, @PHENOTYPICFEATURE$ and learning disabilities.	false
+c02eaa014728daba268d2270b383cec565e1e3f8	In addition, there was a high incidence of renal agenesis in siblings of @DISEASE$ patients and two BBS families were identified with apparently dominant inheritance of @PHENOTYPICFEATURE$.	false
+ba280eb33f29a46e213758efcc65e43097a74117	In addition, there was a high incidence of renal agenesis in siblings of BBS patients and two @DISEASE$ families were identified with apparently dominant inheritance of @PHENOTYPICFEATURE$.	false
+0ae8d5061a0655d96f4104d36ce6e7abb87b2663	@DISEASE$ (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+7903f8b21a87aee121083adade2372f2d78f8a52	Bardet-Biedl syndrome (@DISEASE$) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and hypogenitalism.	false
+e3b7e94ffb0b8f8e3da3ad684da32c01e16113bf	Mutations in MKKS cause obesity, retinal dystrophy and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+a7544c750eaa4cf75da0ce410d6480a6604395c8	@PHENOTYPICFEATURE$ in the @DISEASE$: echocardiographic studies of 22 patients.	false
+fcf862139883ac3f02886840a0251020675d8307	@DISEASE$ was defined as a syndrome characterized by a new autosomal recessive, severe lymphedema in legs, face and genitalia with intestinal lymphangiectasia, various face anomalies and @PHENOTYPICFEATURE$.	false
+e653e372eb3a5b53c0ddeba433eb2b470558b8d9	This case differs from the classical @DISEASE$ in having isolated hand malformations without any other malformations such as cleft palate or @PHENOTYPICFEATURE$.	false
+1108e02fad942b018893c41c9186f7053b8e30f8	The incidence of significant @PHENOTYPICFEATURE$ in SCA seems to have reduced in line with the general improvement and survival of @DISEASE$ patients.	false
+cfbfcd46e34b83d58db95163274d3436881885bb	The incidence of significant @PHENOTYPICFEATURE$ in @DISEASE$ seems to have reduced in line with the general improvement and survival of SCA patients.	false
+c6fc868c3396a65189addb519ccaf3155602205d	We presume that the impaired REMs generation in sleep could be due to @PHENOTYPICFEATURE$ and has resulted in spuriously low or absent stage R sleep percentage in @DISEASE$ patients with conventional VPSG scoring rules.	false
+2aa50331d1b61c5ad64fd7bac3e44ca39dad6572	We hypothesized that higher HbF levels in children with @DISEASE$ are associated with fewer severe @PHENOTYPICFEATURE$ episodes.	false
+ad8056ac66c109f8a44490c501e2d933e9a1a418	@PHENOTYPICFEATURE$ was significantly higher among children with @DISEASE$ during Vaso-occlusion crises.	false
+590db3ffcec7a67979c584b38e131e701a735100	Spinocerebellar ataxias (@DISEASE$) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and @PHENOTYPICFEATURE$.	false
+60398e9662d5b5a0fb5272b5f1e4ec2bdf1d5a61	This study is to determine the prevalence of @PHENOTYPICFEATURE$ (SNHL) among children with sickle cell anaemia (@DISEASE$).	false
+b77af777cb5aaa3a1457d0c56992e9c5cac3c67d	We present the first-published cochlear implant in an adolescent with sickle cell anemia (@DISEASE$) and bilateral profound @PHENOTYPICFEATURE$ (SNHL).	false
+ffb210f9368fbce9f098822974e4b183e459dedd	@PHENOTYPICFEATURE$ was highest among @DISEASE$ patients in the crisis state (23.8%) compared to 13% and 0% for those in the steady state and in those with normal hemoglobin genotype, respectively (?? = 6.425,	false
+44aa28c19a878a74ed206566a3969343c9cc13fb	Chronic @PHENOTYPICFEATURE$ is a common manifestation among patients with sickle cell anemia (@DISEASE$) who develop chronic lung disease.	false
+ea2f10646dd06a8fd438caf46b4b966e50a0e328	To investigate the prevalence of @PHENOTYPICFEATURE$ (SNHL) in children and adolescents with sickle cell anemia (@DISEASE$) and its association with endothelial dysfunction (ED).	false
+943e9dcf81bffc1b656470025d9217a82545d206	A patient with serpiginous choroidopathy had @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e3bb5356d9fd612037cad233ef544cf2de5ee602	The number of treatments per eye ranged from 1 to 5. The presence of @DISEASE$, initial @PHENOTYPICFEATURE$, the presence of coexisting macular ischemia, or a history of systemic hypertension did not effect the outcome.	false
+adef2a62dc623da969290eea2f95145e24c5531d	Problems wre macular degeneration in 11 of the 23 patients with @PHENOTYPICFEATURE$ (48%); marked @DISEASE$ in four patients (17%), advanced glaucoma in three patients (13%) and amblyopia in three patients (13%).	false
+9b811ed4e11a0f66312c36547bb3017d69e0c1a6	Outcome measures included the type of surgery, surgical complications, elevation of intraocular pressure (IOP), @PHENOTYPICFEATURE$, @DISEASE$ (CME) and IOL dislocation at 3 months or greater post-operatively.	false
+1d6ea2f5a60c7ae97ea7ffadaae951bb2dcc2a14	The cause of @PHENOTYPICFEATURE$ was @DISEASE$ in one eye, macular scars in two eyes, and amblyopia in one eye.	false
+fd34527f30752a919453cd3b03defe66a42bc200	Rare, less well-defined side effects of niacin include blurred vision due to @DISEASE$, @PHENOTYPICFEATURE$, and the exacerbation of peptic ulcers.	false
+21d259d8249c4ae1f85aa49b1e00d243c2b57cfc	At the 12-month follow-up visit, none of the following factors statistically affected the visual outcome in either of the two groups: a history of systemic hypertension, systemic vascular disease, @DISEASE$, or initial @PHENOTYPICFEATURE$.	false
+3ee3824e397b573e58863a76da3a19a9016d85b9	@DISEASE$ (CME) is a classical complication of @PHENOTYPICFEATURE$.	false
+cc8f6ea45eb451c17bf9c2c1d4b8e1e9a2890790	The presence of @DISEASE$, initial @PHENOTYPICFEATURE$, or a history of systemic hypertension did not affect the outcome.	false
+27fc4d9b539f9eadcb76af068525c270b2313196	@DISEASE$ may be associated with a variety of therapeutic interventions, predominantly in eyes at increased risk with open or absent posterior lens capsule and @PHENOTYPICFEATURE$.	false
+5e61ce03277442ea673cd706d9eecb2746bb470b	The most ischemic segment (midtibial), of nonreperfused ischemic nerves (duration 3 h), underwent both @PHENOTYPICFEATURE$ and @DISEASE$ that was as pronounced as those of other segments after reperfusion, and underwent a smaller increase with reperfusion, suggesting that ischemia alone can also cause IFD and edema.	false
+96bf0c208785bc0f91679444f92864038f34ab8e	The most ischemic segment (midtibial), of nonreperfused ischemic nerves (duration 3 h), underwent both @PHENOTYPICFEATURE$ and IFD that was as pronounced as those of other segments after reperfusion, and underwent a smaller increase with reperfusion, suggesting that ischemia alone can also cause @DISEASE$ and edema.	false
+3805043962fc6cdc71d337a8f19fc385c3368773	The most ischemic segment (midtibial), of nonreperfused ischemic nerves (duration 3 h), underwent both edema and @DISEASE$ that was as pronounced as those of other segments after reperfusion, and underwent a smaller increase with reperfusion, suggesting that ischemia alone can also cause IFD and @PHENOTYPICFEATURE$.	false
+a0444304894de403b5a4b5fdb313438c9ef65e08	The most ischemic segment (midtibial), of nonreperfused ischemic nerves (duration 3 h), underwent both edema and IFD that was as pronounced as those of other segments after reperfusion, and underwent a smaller increase with reperfusion, suggesting that ischemia alone can also cause @DISEASE$ and @PHENOTYPICFEATURE$.	false
+151f52f5d31ba6441ac5a91541e8e0e453bd0a5f	Endoneurial @PHENOTYPICFEATURE$ and ischemia fiber degeneration (@DISEASE$) were observed at both the 1-month (p<0.01 and p<0.001) and 4-month (p<0.001)	false
+236ed408c5a1f18b6021e1cf95846851f151b1a3	Nerve @PHENOTYPICFEATURE$ and @DISEASE$ consistently became more severe with reperfusion, indicating that oxidative stress impairs the BNB (edema) and causes IFD.	false
+312bffb67d5e3a053f0aeed6147ec70d7e2f98bd	Nerve edema and IFD consistently became more severe with reperfusion, indicating that oxidative stress impairs the BNB (@PHENOTYPICFEATURE$) and causes @DISEASE$.	false
+5627b450ca242936a311716162c3fde9e3d6d1f4	Nerve @PHENOTYPICFEATURE$ and IFD consistently became more severe with reperfusion, indicating that oxidative stress impairs the BNB (edema) and causes @DISEASE$.	false
+18ee0693452b33d79f357b7442f994d54a5a6169	Nerve edema and @DISEASE$ consistently became more severe with reperfusion, indicating that oxidative stress impairs the BNB (@PHENOTYPICFEATURE$) and causes IFD.	false
+8af5f728a59cd25ca3967edc6dbf5de426a2fad8	We evaluated for ischemic fiber degeneration (@DISEASE$) and @PHENOTYPICFEATURE$, as we described previously.	false
+b5186c68d6ff09d4d338fc0ca2de04245e8487f7	Electrophysiology, behavioral score and morphological indices (@PHENOTYPICFEATURE$ and ischemic fiber degeneration [@DISEASE$]) were examined to determine the influence of TNF-alpha on peripheral nerve structure and function following ischemia followed by reperfusion.	false
+982dc33580d09990e9694b85e1bbd94783378688	After euthanasia, sciatic nerves were removed at the end of reperfusion times and sections were cut at 5 ?m, then were stained for light microscopy studies and graded for ischemic fiber degeneration (@DISEASE$), @PHENOTYPICFEATURE$, and apoptosis.	false
+f7726ffd13625811a89133c50e914ad2e6e5035d	Just before euthanasia, behavioral scores (based on gait, grasp, paw position, and pinch sensitivity) were obtained and then sciatic nerves were removed for light-microscopy studies (for ischemic fiber degeneration (@DISEASE$) and @PHENOTYPICFEATURE$).	false
+f402d7deee54e0f15747d803211c9567ad08a4ac	The sciatic nerve was removed for light microscopy studies and graded for ischemic fiber degeneration (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+a3bee79905c9e8c90c118880b439205123041051	Terminal or interstitial deletions of Xp (Xp22.2?Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as @DISEASE$ (SHOX), chondrodysplasia punctata (CDPX1), @PHENOTYPICFEATURE$ (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).	false
+6c6a88cdfa84daef10c9df94724a693e0128810e	Saethre-Chotzen syndrome is a @DISEASE$ further characterized by distinctive facial and @PHENOTYPICFEATURE$.	false
+eb62cbc2fb570d653a6e4f84a203d7056e4bd73f	Estimates approximated unity for @PHENOTYPICFEATURE$, oral clefts, anorectal atresia, hypospadias, and @DISEASE$.	false
+799a6684af16bfb52ea860871c45ea5a82361722	Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by @DISEASE$, mid-@PHENOTYPICFEATURE$, symmetrical syndactyly of hands and feet.	false
+252f01272e8f304eac5b2a537b196e54f278b648	The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include @DISEASE$, mid-@PHENOTYPICFEATURE$ and ocular proptosis.	false
+5861f71ad7699ea4edb2a4c1df2d05131daa404e	@DISEASE$, telecanthus, scalp @PHENOTYPICFEATURE$, and sensorineural deafness in two sibs.	false
+673a833e1ba386742001759b83f7376c95eedde9	Interstitial deletion of 2q associated with @DISEASE$, ocular coloboma, and @PHENOTYPICFEATURE$: cytogenetic and molecular investigation.	false
+91c183b51ca61f748c59988f94fe2f850bc0ccb3	As anesthetist, we face difficulties in airway management due to mid-@PHENOTYPICFEATURE$, @DISEASE$.	false
+04a5926614720b47c72b210af8775e9bcb0ead2c	Saethre-Chotzen syndrome is a @DISEASE$ characterized by facial and @PHENOTYPICFEATURE$.	false
+504c039fc1ddcf790e587895580b9c951e5cbd34	For children with @DISEASE$ presenting intracranial hypertension and @PHENOTYPICFEATURE$, different techniques have been used.	false
+834558e21c44c7af47abf79c897041c274270c97	Oculo-facio-cardio-dental syndrome with @DISEASE$, temporal @PHENOTYPICFEATURE$, and deafness.	false
+15836e060a8c8137a6fa266dbb898bc3787e7699	For example, we report here three later-onset patients who had chronic diarrhea, postprandial bloating and @PHENOTYPICFEATURE$, previously unrecognized manifestations of later-onset @DISEASE$.	false
+0c052870d9e438846044b62aa272c3e2f36586f0	AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, @PHENOTYPICFEATURE$ susceptibility, @DISEASE$, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates.	false
+1b1cba06e1496e7d068d947e1bb1a2fd575ea711	Tooth eruption problems and developmental @PHENOTYPICFEATURE$ should be included in the signs for @DISEASE$.	false
+4d543d5ef4435ecf3aac997a4ae4e01dde956137	Brain magnetic resolution imaging examination revealed a pineal @DISEASE$ lesion, visualised in the posterior part of the third ventricle, with a maximum diameter of ?2.8 cm and obstructing the aqueduct of Sylvius, causing obstructive @PHENOTYPICFEATURE$.	false
+4e70f5752a55a00e2ce436873fa6a9a05a7e9242	Identifiable risk factors for NIHF other than PV in the remaining 25 cases @DISEASE$ hygroma, seven (three 45,X; two 46,XX; two no growth); complex @PHENOTYPICFEATURE$, six; infection, three (two CMV, one chlamydia); twin-twin transfusion, two; lymphangiectasia, two; diaphragmatic hernia, tracheal atresia, trisomy 21, congenital cystic adenomatoid malformation, one each.	false
+d310c25444f1ec3b7f3fb6c54d9e487ff395502a	Early in life, the SD OCT findings in @DISEASE$ demonstrate differences in schisis location in fovea-parafoveal versus extrafoveal region, possible association between @PHENOTYPICFEATURE$ and degree of ellipsoid zone disruption and decrease in central foveal thickness over time in this group.	false
+391e01f40fce7f0eebac7a7052f4e301236ca336	A rare case of middle mediastinal @DISEASE$ mimicking left lower lobe @PHENOTYPICFEATURE$.	false
+c3e763f7acda01edd74591ca2a0af92eb9b91a6d	Novel ITGB6 mutation in @PHENOTYPICFEATURE$ @DISEASE$.	false
+9b0b6a8eff7281c2e0ff5079d83527615e592d00	Homozygous Missense Mutation Responsible for a Milder Phenotype of @PHENOTYPICFEATURE$ With @DISEASE$.	false
+623cd9703c31bb3f6a32d2ab1762f428e9f4bd22	A new form of @PHENOTYPICFEATURE$ with @DISEASE$ and platyspondyly.	false
+f7e946f6140535725be42b06cab39b17ce19e109	This article focuses on a subgroup of craniofacial dysmorphologies, covering these three main inheritance patterns, that are being studied using molecular biology techniques: DiGeorge syndrome, Treacher Collins syndrome, Greig cephalopolysyndactyly syndrome, acrocallosal syndrome, @DISEASE$, and X-linked @PHENOTYPICFEATURE$ with ankyloglossia.	false
+5cb71d1c62d0c9c30818b268d38e208053dbd06d	The patients' phenotype consisted of @DISEASE$, @PHENOTYPICFEATURE$, and decreased bone mineral density compatible with osteoporosis.	false
+9815e9015f4011dbc23b8d0c054b5b949d05f1d5	@DISEASE$ is a debilitating genetic condition that results in a deficit in these neurotransmitters, and manifests in infancy as a severe @PHENOTYPICFEATURE$ with developmental delay.	false
+c3c25b480d78d76c3ad4042f0f3c191129ae4522	@DISEASE$: an extrapyramidal @PHENOTYPICFEATURE$ with oculogyric crises.	false
+ce7248d8c7acfd0a566bba2fb22f6cfea9ed7ae5	@DISEASE$ is a rare autosomal recessive disease that may lead to @PHENOTYPICFEATURE$ and/or autonomic dysfunction.	false
+d51a2a86c2f7b3bcbe3d51fa5e5a5b4e76dda151	The @PHENOTYPICFEATURE$ in @DISEASE$, particularly the characteristic eye movement abnormalities, should facilitate the identification of patients with this rare but possibly underrecognized disorder.	false
+3084dcc19d23a91e4d0f52e7362f8be08e083e24	Suspected clinical diagnoses prior to identification of PLPBP variants included mitochondrial encephalopathy (two patients), folinic acid-responsive epilepsy (one patient) and a @PHENOTYPICFEATURE$ compatible with @DISEASE$ (one patient).	false
+b914b7ca2136895692d17c2a8262832cbd581c64	In addition to the potential clinical benefit of improving decarboxylation efficiency in Parkinson's disease, our approach may be relevant for the treatment of @DISEASE$, a rare, autosomal recessive disorder causing a severe @PHENOTYPICFEATURE$ and progressive cognitive impairment.	false
+be554acfeecb8ec3b34d14ae86b97f58e4014d35	Patients with @DISEASE$ mutations may suffer from two forms of xeroderma pigmentosum (XP): XP-F patients show mild photosensitivity and proneness to skin cancer but rarely show any neurological abnormalities, whereas XFE patients display symptoms of severe XP symptoms, @PHENOTYPICFEATURE$ and accelerated aging.	false
+fe01275061ee56e78f1ac4b489c78a29c2a3832b	Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive @PHENOTYPICFEATURE$ associated with thin and sparse hair and cell mediated or @DISEASE$.	false
+41334cac2e6ed66a0b26dfc73f8baa1f93ee62d7	N:NIH(S)-nu/nu mice with @DISEASE$: a new model for human @PHENOTYPICFEATURE$ heterotransplantation.	false
+45c5ceda7ae8dbb85f90845220736e503aef1249	Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to @DISEASE$ is associated with microcephaly, @PHENOTYPICFEATURE$, and growth retardation.	false
+6ef3ca48d3b508c25780568484bbc2f8b3cc1847	Granulomatous reaction in an infant with @DISEASE$ disease and @PHENOTYPICFEATURE$.	false
+8bf6de8d79aecef2ec7a94f94b37c29d46a8af9b	Progressive development of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7ddf3c699236127ec3ac8edd890c6a837a70674b	We diagnosed a case of @DISEASE$ in a seven-month-old female infant who was admitted for abdominal distension, @PHENOTYPICFEATURE$, and lethargy for a duration?of four months with characteristic rounded doll's face, fatty cheeks, protuberant abdomen, and massive hepatomegaly.	false
+910d7f963c8978d56001c7be57cdaaffb88edd01	Uterine length, tumor signal intensity, appearance of the junctional zone, presence of large polypoid @PHENOTYPICFEATURE$, leiomyomata, and congenital @DISEASE$ were analyzed.	false
+aeafba7c34a0cb3887aa60028d2b0a132ef34980	Uterine length, @PHENOTYPICFEATURE$ signal intensity, appearance of the junctional zone, presence of large polypoid tumors, leiomyomata, and congenital @DISEASE$ were analyzed.	false
+1d5b275ec70d998aedba8624fcdccd175ac53f86	ILI for melanoma and @DISEASE$ is associated with postprocedure symptoms in most patients, most commonly @PHENOTYPICFEATURE$, color change, and numbness.	false
+d6ea18c620f9a72b382394e4e3eb3c0ed8a4f8e3	However, there are a few exceptions: patients with @DISEASE$, patients with Jervell Lange-Nielsen syndrome carrying KCNQ1 mutations and LQT3 patients with 2:1 atrio-ventricular block and very early occurrence of @PHENOTYPICFEATURE$.	false
+90423b704d43e653d288350404ab20330ae08882	@DISEASE$ is a multisystem disorder associated with QT interval prolongation and ventricular @PHENOTYPICFEATURE$.	false
+68107a085b9c2011d69bd4a38d3ae3d282118d0c	@DISEASE$ patients present with multiple clinical manifestations, including: @PHENOTYPICFEATURE$; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism.	false
+21268b4359a1911670db1ddb691e217862e3d103	@DISEASE$ (TS) is a malignant form of congenital long QT syndrome with a mode of @PHENOTYPICFEATURE$ onset often triggered by enhanced sympathetic tone.	false
+2ab302c3d611814950dae04bb052faf1ce6a872c	@PHENOTYPICFEATURE$ epilepsy and long QT: expanding @DISEASE$ phenotype.	false
+3c02cdf0e2b74ee74338c32afd742029822acc13	Even without typical phenotypes of @DISEASE$, CACNA1C mutations may cause QT prolongation and/or fatal @PHENOTYPICFEATURE$ attacks.	false
+7d1d1a4c896338ecb9b0e80ce0eecbd4bf660b5e	This review summarizes recent findings on the mutations of LTCC, which are associated with long QT syndromes, @DISEASE$, Brugada syndromes, short QT syndromes, and some other @PHENOTYPICFEATURE$.	false
+1b3968660fe1b2225173e84354ae10256947bb00	An example is @DISEASE$ (TS), a multisystem disorder that includes severe @PHENOTYPICFEATURE$.	false
+25a0d51fa9839ff21fbe53f2d72bd1204bd4ae90	The phenotype of our patient and the previously described patient show an isolated @PHENOTYPICFEATURE$ disease with no other organ manifestations of classical @DISEASE$.	false
+d2cafa4450f72dbc7fee99ba6751e791ac309deb	Human iPSC (hiPSC) models have been described for the @PHENOTYPICFEATURE$ syndromes, including LQT1, LQT2, LQT3-Brugada Syndrome, LQT8/@DISEASE$ and catecholaminergic polymorphic ventricular tachycardia (CPVT).	false
+ea0650b1269839646420d03abce879e79f9d99d4	We present a rare case of a 70-year-old female with @DISEASE$ who presented to the emergency department with new-onset @PHENOTYPICFEATURE$.	false
+18b69de11fdd2e0d2cb67e66ef8e80aeaa15f375	In this paper, we describe a case of a male patient with anti-U1RNP positive @DISEASE$/@PHENOTYPICFEATURE$ overlap syndrome, who presented acutely with rapidly progressive digital ischemia, which lead to extensive gangrene.	false
+8b321b1d4e50b7793cdb13fcf0a1805ebec8591b	Severe gangrene in a patient with anti-RNP positive @DISEASE$/@PHENOTYPICFEATURE$ overlap syndrome caused by vasculopathy and vasculitis.	false
+4d824611add64c70f442f3d81c3ff300a0863b4f	Current intensity thresholds for interruption of normal behaviour, epileptiform afterdischarge (@DISEASE$) longer than 5 s and @PHENOTYPICFEATURE$ with Racine severity greater than 3 were not correlated to time post-surgery.	false
+4ce529dd4cda4e608fcd2db208d6e9219c34cf97	Generic substitution of antiepileptic drugs (@DISEASE$) have limited use because epilepsy is a chronic disease, @PHENOTYPICFEATURE$ recurrence has an important impact of the quality of life and the potential risk of accidents.	false
+30316744c7b34c40972274874fdfe5b4cb6c8982	Approximately one-third of stimulations did not cause observable motor seizures and of those that did result in @PHENOTYPICFEATURE$, forelimb clonus was the most common manifestation and the mean @DISEASE$ duration was 18.5 s.	false
+0bab3409d94898deb48ecc04c5011c5e397dea0f	Approximately one-third of stimulations did not cause observable @PHENOTYPICFEATURE$ and of those that did result in seizures, forelimb clonus was the most common manifestation and the mean @DISEASE$ duration was 18.5 s.	false
+2f24b4cb161dc8e463cb9b172c6f031659d86c5c	The Racine threshold was shown to be negatively correlated to the @DISEASE$ duration and Racine severity of @PHENOTYPICFEATURE$ elicited in the following sessions.	false
+2b2b326983da673f538408b9eb99e0ed82fca987	Computed tomography (CT) was used to evaluate six patients with @DISEASE$ who, after colectomy, complained either of @PHENOTYPICFEATURE$ or of palpable masses.	false
+adc66bbc19aeb238e4324e41404f4f995d4f4f2b	A 20-year-old woman with @DISEASE$ and intra-abdominal desmoid tumors presented with increasing @PHENOTYPICFEATURE$.	false
+b6b3b59c6f9d2a1862d4545b4587456f25b110fb	Extraintestinal manifestations, including congenital @PHENOTYPICFEATURE$, typical for @DISEASE$, were observed in the sisters with FAP as the addition symptoms of the disease.	false
+e7a2e53bacd778fafae1d1da2edd4a5730fdb3f2	In the case presented, a woman with a clinical history of @DISEASE$ who had previously undergone a total colectomy with ileorectal anastomosis presented to the hospital with a recent history of sore throat, fever, diarrhea, and @PHENOTYPICFEATURE$.	false
+e528243f79d209cd274dc84b9f4cf78fe68ddc92	Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of @DISEASE$ (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without @PHENOTYPICFEATURE$.	false
+bfe37c0dd199552eac791f1d380a1a2afbda7d3c	The syndrome has a broad phenotypic spectrum including multiple anomalies, of which @PHENOTYPICFEATURE$ (CP), congenital heart defects (CHD), and mental @DISEASE$ are among the most common.	false
+a7caf87b5e22e68e4119a211f3297af04e8f41f1	The existence of microscopic @PHENOTYPICFEATURE$ implants in the rectal wall, distal to the inferior edge of macroscopic tumor in rectal cancer (RC) (either in continuity with, or discontinuously) is called distal intramural spread (@DISEASE$).	false
+7475a88ee60dbcfc08a39554783820a8c9d3e416	The existence of microscopic tumor implants in the rectal wall, distal to the inferior edge of macroscopic @PHENOTYPICFEATURE$ in rectal cancer (RC) (either in continuity with, or discontinuously) is called distal intramural spread (@DISEASE$).	false
+10e4ceb871c30e03cbfc4811daacfbc0b909f0bb	Thus, the following rules for CTV delineation are proposed: caudal border 1.5?cm from the tumour to account for DMS or 1?cm to account for @DISEASE$, whichever is more caudal; cranial border at S2/S3 interspace; inclusion of LLN for @PHENOTYPICFEATURE$ at or below peritoneal reflexion.	false
+b1c5fcc0482284725bb4379dc7e90e21945135cd	Thus, the following rules for CTV delineation are proposed: caudal border 1.5?cm from the @PHENOTYPICFEATURE$ to account for DMS or 1?cm to account for @DISEASE$, whichever is more caudal; cranial border at S2/S3 interspace; inclusion of LLN for tumours at or below peritoneal reflexion.	false
+0921f6cc0c83beac531d14f1e118ffb0456bf0de	To assess the long-term efficacy of VIM DBS for MS @DISEASE$ @PHENOTYPICFEATURE$.	false
+9a34f1ad33fe97762bb8fa3e82355647e9d5a8f0	A systematic review and meta-analysis were performed to determine the extent of distal mesorectal (DMS) and distal intramural spread (@DISEASE$), the risk of lateral lymph node (LLN) metastases in pT2 @PHENOTYPICFEATURE$, and regional recurrence pattern after organ preservation.	false
+1d07eac849419e64fb3aed8a2aa25a90247db0c7	@PHENOTYPICFEATURE$ @DISEASE$ and heart disease disability.	false
+e10dd41ebd4298e3123cf381b228f9ce5a5c182e	The finding that the @DISEASE$1Del1p @PHENOTYPICFEATURE$ were frequent in MS- but not in MS+ tumors suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+ac6650934b868c35fcca4134279dd08b6ccb9a91	The finding that the @DISEASE$1Del1p tumors were frequent in MS- but not in MS+ @PHENOTYPICFEATURE$ suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+4a11483d408bdabbad69885e42c1701e98642d63	We found @DISEASE$ in only one case (4.8%) at 9 mm of the macroscopic @PHENOTYPICFEATURE$ edge.	false
+82911ff72d0cfef41cf4a434a98b2176544c475d	Patterns of optic nerve and chiasmal field loss and atrophy of the @DISEASE$ or retinal nerve fibers are imprecise guides to the location of basal skull @PHENOTYPICFEATURE$.	false
+6307e0f6b5e5c528f3812dbb8fdadbfa54d82d59	In conclusion, this study comprehensively analyzed the @PHENOTYPICFEATURE$ immune microenvironment and identified @DISEASE$ and PIS for digestive system cancers.	false
+56eb2b7045a753ed098e03a23e95468221e5face	As persons destined to develop familial AD (@DISEASE$) due to fully penetrant @PHENOTYPICFEATURE$ mutations are essentially certain to develop the disease, they provide the opportunity to identify oligomers during the presymptomatic stage of the disease.	false
+7a5df23ebff2f75e3cd4f6ec37e1ea0be0bf7953	The MISCAN-@DISEASE$ continuous @PHENOTYPICFEATURE$ growth model for breast cancer.	false
+3b74c8e9cb108f38fd3b43081854de27a7fb3ede	Familial Alzheimer's disease (@DISEASE$) tends to present with more prominent neurological symptoms including @PHENOTYPICFEATURE$ than sporadic Alzheimer's disease (SAD).	false
+fd4b327c533ff73bec35050ba4f92c3a53e3391d	@DISEASE$ (FADS) or Pena-Shokeir Sequence is a heterogeneous group of disorders in which prolonged decrease or absence of fetal movements results in a series of deformational anomalies: multiple @PHENOTYPICFEATURE$, pulmonary hypoplasia, craniofacial anomalies, polyhydramnios, intrauterine growth retardation, and short umbilical cord.	false
+bce6625b16d084f336fd06763efe07c1cbc43a04	Biopsy of the mucosa directly anterior to the @PHENOTYPICFEATURE$ revealed areas of both focal acantholytic dyskeratosis (@DISEASE$) and epidermolytic hyperkeratosis (EH).	false
+346eb94633ca0f3b0c6489966ea5c8c0e9dcb5d0	[18F]@DISEASE$ had higher @PHENOTYPICFEATURE$-to-nontumor tissue count density ratios than [18F]FEU.	false
+376fe3f10dd6f85aa87fd41272db5e84de3a5708	Neither @DISEASE$ and PLP were associated with the @PHENOTYPICFEATURE$ inflammatory cell infiltrate.	false
+e5286314ad5b9cc79b88d71e9e91ec72a288f07b	Curarized rat fetuses showed growth retardation, a short umbilical cord, and multiple articular @PHENOTYPICFEATURE$, a phenotype consistent with @DISEASE$.	false
+25bfaf6b4b918b02b9806217ad2261bddd7d8d9b	Furthermore, there was significant decrease in the optical redox ratio [(FAD/ (NADH?+?@DISEASE$)] is observed in DMBA-induced @PHENOTYPICFEATURE$ tissues, which indicates an increased metabolic activity when compared to the control tissues.	false
+8997700c3edc61c0755b6089e4fe9a568f248d64	Furthermore, there was significant decrease in the optical redox ratio [(@DISEASE$/ (NADH?+?FAD)] is observed in DMBA-induced @PHENOTYPICFEATURE$ tissues, which indicates an increased metabolic activity when compared to the control tissues.	false
+18b581df2dd7035711581d26b9c47a14e5b86512	We further generated @DISEASE$-deficient tumor cells by CRISPR/Cas9-mediated gene editing, and demonstrated that FADD-deficient tumor cells were obviously resistant to ESC-mediated inhibition of @PHENOTYPICFEATURE$ cell proliferation.	false
+8935cd5b9e22910abc0527228dcab217a76063d1	We further generated @DISEASE$-deficient tumor cells by CRISPR/Cas9-mediated gene editing, and demonstrated that FADD-deficient @PHENOTYPICFEATURE$ cells were obviously resistant to ESC-mediated inhibition of tumor cell proliferation.	false
+a6c5c12f931c57d654bfac2720d35ac656b4523f	We further generated FADD-deficient tumor cells by CRISPR/Cas9-mediated gene editing, and demonstrated that @DISEASE$-deficient @PHENOTYPICFEATURE$ cells were obviously resistant to ESC-mediated inhibition of tumor cell proliferation.	false
+a0996577c0feefd85bf33e26db1d82d43e3b9ab6	We further generated FADD-deficient tumor cells by CRISPR/Cas9-mediated gene editing, and demonstrated that @DISEASE$-deficient tumor cells were obviously resistant to ESC-mediated inhibition of @PHENOTYPICFEATURE$ cell proliferation.	false
+9a450342b5f92724cb841d8a9a81ccabacd9fa76	We further generated FADD-deficient @PHENOTYPICFEATURE$ cells by CRISPR/Cas9-mediated gene editing, and demonstrated that @DISEASE$-deficient tumor cells were obviously resistant to ESC-mediated inhibition of tumor cell proliferation.	false
+7fbf813e5f6f5871a86f2e7e4ac844a8289f4c02	We further generated @DISEASE$-deficient @PHENOTYPICFEATURE$ cells by CRISPR/Cas9-mediated gene editing, and demonstrated that FADD-deficient tumor cells were obviously resistant to ESC-mediated inhibition of tumor cell proliferation.	false
+a4c74ad48908e9513054e2b17bc8d9ee478857d5	Mental retardation, @PHENOTYPICFEATURE$ and synpolydactyly in a manifesting heterozygote of @DISEASE$.	false
+2176690f715dd88c4da7484eadc1bc3a638d10be	The thickness of the joint cartilage was diminished and signs of early osteoarthritis, including @DISEASE$ and local @PHENOTYPICFEATURE$, were common.	false
+2784de200220005345e6963cda5711bd1e36f332	Two experienced radiologists interpreted abnormalities in consensus with respect to periarticular soft-tissue swelling, synovitis with or without effusion, periostitis, bone @PHENOTYPICFEATURE$, bone erosions, @DISEASE$, and tenosynovitis.	false
+2c54271432833e209c691551a9ff8d24caa14c18	The anonomized MR images were dichotomously scored by a musculoskeletal radiologist for the presence of the following abnormalities per bone (of a total of 14 bones): cartilage defects, @DISEASE$, bone marrow @PHENOTYPICFEATURE$, fractures, joint debris, joint effusions, tendinopathy, tendinitis, and ligament tears.	false
+db7a52b142632cd675e3e79d5892046219492cce	All trial entry radiographs (clinically involved joints and contralateral joints) were scored (in consensus by a skeletal radiologist and pediatric rheumatologist) for the presence of swelling, osteopenia, joint space narrowing, @PHENOTYPICFEATURE$, subchondral @DISEASE$, erosions, and malalignment.	false
+3bafb50e581fad808e1591da3cfd827ece03709d	Some histopathological changes in the subchondral bone have also been detected, including microdamage, bone marrow @PHENOTYPICFEATURE$-like lesions and @DISEASE$.	false
+d159c5a8b67677c44dc13cdced25f154e4841f16	Bony abnormalities were described as bone @PHENOTYPICFEATURE$ (low signal on T1-weighted sequences and intermediate/high signal on T2 FS sequences adjacent to the bone cortex) or as @DISEASE$ (circular juxtacortical abnormalities with low signal on T1-weighted images and with very high signal on T2 FS sequences).	false
+65b9965f57069a39e45ac2f5261977cd846f9e5e	The Dijkstra score assesses the presence or absence of swelling, osteopenia, joint space narrowing, @PHENOTYPICFEATURE$, subchondral @DISEASE$, erosions, and malalignment.	false
+a129d40be41d8932e90f1b6ad3bf72fc6fc21bb4	No statistically significant difference was found in the frequency of synovitis, bone marrow @PHENOTYPICFEATURE$, @DISEASE$, and tenosynovitis between the two groups (p > 0.05).	false
+29140824c691e8d526748f8af446088b0a603f84	Plicated tongue in @DISEASE$ and in @PHENOTYPICFEATURE$ of the facial nerve.	false
+f64b94151696832acd861e4cd3b18a8ab87fc674	[@PHENOTYPICFEATURE$ of the facial nerves with edema, furrowed tongue (@DISEASE$) and hemicrania].	false
+2c1a3f672c4e3a6902405d7e94fc3ab5b50dc6a3	@DISEASE$ is a rare disorder characterized by a triad of recurrent orofacial swelling, recurrent @PHENOTYPICFEATURE$ of the facial nerve and lingua plicata.	false
+3fc07b4dde182b63f5d9540961a151b6567f56a4	Besides excitation-contraction coupling, the reverse process where Ca(i) influences the AP through Ca(i)-dependent ionic currents has been implicated as the mechanism underlying QT alternans and cardiac arrhythmias in heart failure, ischemia/reperfusion, cardiac @PHENOTYPICFEATURE$, myocardial infarction, congenital and drug-induced @DISEASE$, and ventricular fibrillation.	false
+61baaeaa864fce3561d8b9ebbef9d548ae7b2689	[@DISEASE$ and polymorphic ventricular tachycardia due to @PHENOTYPICFEATURE$.	false
+1b010b7124d7ccfeae45ac24c2a88811089da9ec	Timothy syndrome (TS) is a rare genetic condition that associates @DISEASE$, structural heart defects, dysmorphic facial features, syndactyly, seizures, developmental delay, and @PHENOTYPICFEATURE$.	false
+a9e21e8ab7c8fe1dec98296d77f10358be0d16d2	Forty-six patients (pts) of HS are constituted of 23 pts with chronic renal failure, 7 with cardiomyopathy, 5 with ischemic heart disease, 5 with essential @PHENOTYPICFEATURE$, 4 with acquired valvular disease, 1 with effusive pericarditis and 1 with @DISEASE$.	false
+3afcba8d27d5db9da7ef7bbbf2d674c9bdd176d8	Octreotide-induced @DISEASE$ in a child with congenital @PHENOTYPICFEATURE$ and a novel missense mutation (p.Met115Val) in the ABCC8 gene.	false
+acaba2d01531a33213e7e68c009176c4ab5ded55	Mutations in human POGLUT1 cause @DISEASE$, POGLUT1 is overexpressed in a variety of tumor cells, and mutations in the EGF repeats of human CRUMBS proteins are associated with human congenital nephrosis, retinitis pigmentosa and @PHENOTYPICFEATURE$, suggesting that O-glucosylation of CRUMBS proteins has broad roles in human health.	false
+94084d9980223aae0eb8091655b1dc5332379d6e	Using a previously established microfluidic tumor vascular model, the objective of this study was to investigate the effect of normal (4 dyn/cm(2)), low (1 dyn/cm(2)), and high (10 dyn/cm(2)) microvascular wall shear stress (@DISEASE$) on @PHENOTYPICFEATURE$-endothelial paracrine signaling associated with angiogenesis.	false
+544db5d0b60af8105f4dcefaf959015f2a6873fe	We studied the histologic concordance between NCB specimens and @DISEASE$ in @PHENOTYPICFEATURE$ larger than 2 cm.	false
+fbbd6d05e62ccb00772bbcb63560a81179cdd24e	In contrast, the @PHENOTYPICFEATURE$ cells were negative for pancytokeratins (@DISEASE$, CAM5.2),	false
+588c1512b038b0ecf311c05da57d7f4752e4929a	However, large @PHENOTYPICFEATURE$, which are the main candidates for preoperative chemotherapy, are potentially more heterogeneous than smaller ones, which questions the reliability of histologic analyses of needle core biopsy (NCB) specimens compared with whole surgical specimens (@DISEASE$).	false
+08254426c8821a686cc06debe54cc3e912f12405	Nine of the intestinal @PHENOTYPICFEATURE$ (64%) stained for AE1/AE3; 7 (50%) also stained for @DISEASE$.	false
+a20b541a8b624c2216ab40d168fafb93d6633ff9	The results showed that, the wall shear stress (WSS) value on the top of CA1 was significantly lower than that of the top (P<0.05), the @DISEASE$ value of each point on the CA2 @PHENOTYPICFEATURE$ was significantly lower than that of tumor neck (P<0.05); the pressure value on the tumor top and tumor neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+9dfe7674b298c73b8b3b3c6522e92c6785809f64	The results showed that, the wall shear stress (WSS) value on the top of CA1 was significantly lower than that of the top (P<0.05), the @DISEASE$ value of each point on the CA2 tumor was significantly lower than that of @PHENOTYPICFEATURE$ neck (P<0.05); the pressure value on the tumor top and tumor neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+33a4d9eea52c1ef2d95a01090d0553904bb55cd0	The results showed that, the wall shear stress (@DISEASE$) value on the top of CA1 was significantly lower than that of the top (P<0.05), the WSS value of each point on the CA2 tumor was significantly lower than that of tumor neck (P<0.05); the pressure value on the tumor top and @PHENOTYPICFEATURE$ neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+2574469d2a276356adf615d50c0cad2f12c33f49	The results showed that, the wall shear stress (@DISEASE$) value on the top of CA1 was significantly lower than that of the top (P<0.05), the WSS value of each point on the CA2 tumor was significantly lower than that of @PHENOTYPICFEATURE$ neck (P<0.05); the pressure value on the tumor top and tumor neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+80ca15810f8a37d100134e348955da4c4a8febd0	The results showed that, the wall shear stress (@DISEASE$) value on the top of CA1 was significantly lower than that of the top (P<0.05), the WSS value of each point on the CA2 tumor was significantly lower than that of tumor neck (P<0.05); the pressure value on the @PHENOTYPICFEATURE$ top and tumor neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+a69c74c037091052ba5df4e1932f53f0c8fb93e8	The results showed that, the wall shear stress (WSS) value on the top of CA1 was significantly lower than that of the top (P<0.05), the @DISEASE$ value of each point on the CA2 tumor was significantly lower than that of tumor neck (P<0.05); the pressure value on the @PHENOTYPICFEATURE$ top and tumor neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+f89a209ecfc4abc64f08abf6aeb824476e27a080	The results showed that, the wall shear stress (WSS) value on the top of CA1 was significantly lower than that of the top (P<0.05), the @DISEASE$ value of each point on the CA2 tumor was significantly lower than that of tumor neck (P<0.05); the pressure value on the tumor top and @PHENOTYPICFEATURE$ neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+5d78b7f7643028c40a5fffcd11b6ea922a01c77f	The results showed that, the wall shear stress (@DISEASE$) value on the top of CA1 was significantly lower than that of the top (P<0.05), the WSS value of each point on the CA2 @PHENOTYPICFEATURE$ was significantly lower than that of tumor neck (P<0.05); the pressure value on the tumor top and tumor neck between CA1 and CA2 had no significant difference (P>0.05); the unsteady index of shear (UIS) value at the points of 20 had distinctly changed, the wave range was 0.6-1.5; the unsteady index of pressure value of every point was significantly lower than UIS value, the wave range was 0.25-0.40.	false
+1be4f3552c76755b405cd8c4d9abdbf2470e6732	Immunohistochemically, almost all of the @PHENOTYPICFEATURE$ cells were strongly positive for cytokeratin (@DISEASE$) and alpha-smooth muscle actin.	false
+92b2dfd7eca8ecd04421e8e426d73ac8225b6843	Newly identified paired box 6 mutation of variant familial @DISEASE$: Congenital iris ectropion with @PHENOTYPICFEATURE$.	false
+b318e2236520e6d5cd619fa799395cc3b7621edb	This study aimed to describe results of glaucoma surgeries performed at one institution over the past 20 years in children with aphakia, @DISEASE$, @PHENOTYPICFEATURE$, and other secondary glaucomas.	false
+2c0eddf3d3427a1d19251845451b664c61dd9d39	Congenital @DISEASE$ is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and @PHENOTYPICFEATURE$.	false
+8084ac03a29eb8b2bfe600e6868b38ce01fda748	Genetics of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a877a34cacc589a95d7562459bcf96d894aacb83	Diagnoses included aphakic glaucoma, congenital glaucoma, juvenile chronic arthritis, @DISEASE$, @PHENOTYPICFEATURE$, and Sturge-Weber syndrome.	false
+d9755572790921497006c89da565216855f8202c	CYP1B1 mutation related congenital glaucoma can present with an extreme form of @PHENOTYPICFEATURE$ that includes recalcitrant glaucoma, corneal opacification and @DISEASE$.	false
+4d68125e007e3073aab2bffd4aad712225026481	Mild iris ectropion with partial @DISEASE$ in a newborn with glaucoma suggests mutations in CYP1B1 rather than in other genes associated with @PHENOTYPICFEATURE$.	false
+f145c43ca3332a61758403ea4de4643770085300	@PHENOTYPICFEATURE$ keratolenticular adhesion and @DISEASE$.	false
+19bb185549a574f611bc14367e8d7cf2b39a64bd	We report rare cases of variant @DISEASE$, congenital iris ectropion associated with @PHENOTYPICFEATURE$ in both a woman and her son with a mutation of PAX6 gene.	false
+648be9643b14e190d192600ebb21551232a05343	Children with uveitis, @PHENOTYPICFEATURE$, @DISEASE$, retinopathy of prematurity, and lens subluxation were excluded.	false
+ecdd72ef1b3ec3d9fbfceb730ff4522013bee065	These observations may explain in part the mechanism of cyclosporine-induced @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b8e288c94c99fba3af3ed8ece1dfeacdceae80ea	Cyclosporine is known to cause a combination of metabolic side effects including @DISEASE$, @PHENOTYPICFEATURE$ and hypomagnesemia.	false
+20f5744d33bc9726483d61ae83d4905fe1853c2f	@DISEASE$: marked sensitivity to thiazides, @PHENOTYPICFEATURE$, normomagnesemia, and low bone mineral density.	false
+20d8d2a8bf2ae1a95f9476f567c35c74a11ff2c1	Germline mutations in the WNK4 gene originate Gordon syndrome or @DISEASE$, a familial form of hypertension with hyperkalemia and @PHENOTYPICFEATURE$.	false
+4049967e8e0ce8bdb628fc407d2cc7c10cca68e5	Germline mutations in the WNK4 gene originate @DISEASE$ or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and @PHENOTYPICFEATURE$.	false
+6ee1211de575b0853793e98a96247b5c53b0dd9f	Obesity in adults is associated with excess mortality and excess risk of coronary heart disease, hypertension, @PHENOTYPICFEATURE$, diabetes, @DISEASE$, certain cancers, and osteoarthritis.	false
+fc2fe4525e64450ecb70728b33719d57e63d68c0	Altered signaling by this subset of receptors, either through chronic ligand excess or genetic factors, may cause an imbalance in these homeostatic circuits and contribute to the pathogenesis of common metabolic diseases such as obesity, insulin resistance and type 2 diabetes, @PHENOTYPICFEATURE$ and atherosclerosis, and @DISEASE$.	false
+69e8ae6aa8429fbf2c255bbbc70f758c92a69a6b	Due to the change of life style and the deteriorating condition of over-nutrition and obesity, people now have a higher risk of diabetes, hypertension, @PHENOTYPICFEATURE$, cardiovascular disease, @DISEASE$, cancer, gout, arthritis, and so on, which leads to higher medical expenditure.	false
+0ae178609adec9d78a9336fa3419822c78127818	Therefore, if Taiwan's NHI provides reasonable benefit for weight-loss outpatient services, not only the risk of people suffering from diabetes, hypertension, @PHENOTYPICFEATURE$, cardiovascular disease, @DISEASE$, cancer, gout, arthritis, etc. will go down; but also the medical expenditure can be effectively reduced.	false
+435bd99ce949df5cb57f32c837578b33dd2653ee	We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of @DISEASE$, neonatal seizures, hypotonia, severe somatic and developmental delay, @PHENOTYPICFEATURE$, and reduced activity of all the respiratory chain enzymatic complexes that are encoded in the mitochondria.	false
+2b265b33e63ebd2908b930761dfafa68907db520	We identified seven patients originating from an extended family and presenting with a unique syndrome, inherited in a recessive mode, consisting of @DISEASE$, neonatal seizures, hypotonia, severe somatic and developmental delay, @PHENOTYPICFEATURE$, and lactic acidemia.	false
+02eba3afce54f005e304b103a2625435558617ef	These patients present with @DISEASE$, severe intellectual disabilities, hypotonia, mitochondrial disease and @PHENOTYPICFEATURE$.	false
+44f80d0bd7585b2aa8633845e2b9630f1e8b45b9	[@DISEASE$-lysinuria with dwarfism, @PHENOTYPICFEATURE$, muscle hypoplasia and psychomotor retardation].	false
+fd534e6c1cb20318285bfd08c3cf6e5465590b12	Here we review genetic and biochemical mechanisms of urolithiasis, with an emphasis on its hereditary forms, including fermentopathies (primary hyperoxaluria, adenine phosphorobosyltransferase deficiency, phosphoribosyl-pyrophosphate-synthetase deficiency, xanthinuria, Lesch-Nihan syndrome) and these caused by membrane transport alterations (Dent's disease, familial hypomagnesia with hypercalciuria and nephrocalcinosis, hypophosphatemic urolithiasis, distal tubular @PHENOTYPICFEATURE$, @DISEASE$, Bartter's syndrome).	false
+c087cb61345fe071985b1ed4f8d35d3017eea7bd	The most frequent inborn disorders are idiopathic hypercalciuria, distal tubular @PHENOTYPICFEATURE$, @DISEASE$ and hyperoxaluria.	false
+a581c0f3ca113eb131d050ebe89700f269ba6ad4	Optic neuropathy after treatment with anti-tuberculous drugs in a subject with @DISEASE$ @PHENOTYPICFEATURE$.	false
+04e0864e4eaa648ea381e61b106da1883bfe9cde	@DISEASE$ usually causes rapid bilateral @PHENOTYPICFEATURE$ in young adults, and thus represents a unique and severe psychologic stressor.	false
+92b809ac47ba2ae05452dc885044e06bc7e8e345	A "Fille du Roy" introduced the T14484C @DISEASE$ @PHENOTYPICFEATURE$ in French Canadians.	false
+448b985400adf745ed4ce14488dc57928732505b	Structural and functional degeneration of retinal nerves in sibling carriers of a @DISEASE$ @PHENOTYPICFEATURE$.	false
+e4896cf09d95cae05c2ece15121b82c15bfb9624	@DISEASE$: Report of a simple case associated with a rare variant @PHENOTYPICFEATURE$.	false
+a05c579807a478d89a67ce19e5ec0f971cff35a6	Migraine-like disorder segregating with mtDNA 14484 @DISEASE$ @PHENOTYPICFEATURE$.	false
+664207f17f5a065452895cf0ef4a257c8aaedd42	@DISEASE$ (LHON) is recognized as the most common cause of isolated @PHENOTYPICFEATURE$ in young men.	false
+5420a0917dc704471545655bcaea4c99f8cdc3b7	Topiramate and visual loss in a patient carrying a @DISEASE$ @PHENOTYPICFEATURE$.	false
+a525f9eb98fdc7050179fef3645ba49577c4fd4e	@DISEASE$ (LHON) is a mitochondrial disease that typically causes bilateral @PHENOTYPICFEATURE$ in young men.	false
+a525f9eb98fdc7050179fef3645ba49577c4fd4e	@DISEASE$ (LHON) is a mitochondrial disease that typically causes bilateral @PHENOTYPICFEATURE$ in young men.	false
+8d2030f2e60211b4043f560dd1c2e994364adf42	In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of @PHENOTYPICFEATURE$ indicate inborn @DISEASE$ of cholesterol biosynthesis.	false
+14d4178ce092f1e7b8eb378f4c42d6122b9b9376	SLOS is an inborn @DISEASE$ of cholesterol synthesis associated with @PHENOTYPICFEATURE$ and malformations involving almost all the systems of the body.	false
+a5c163baa216bfae7efe9e9f1780c07b671a48ed	The infant presented with @DISEASE$ hyperkalemia, neonatal hyperbilirubinemia, anemia, hepatic dysfunction, and @PHENOTYPICFEATURE$.	false
+e3d6218c00ecfc99969115ff96236ad4b57243eb	Stress conditions like hypoxia, ischemia, and ischemia/reperfusion can trigger excessive endoplasmic reticulum stress (@DISEASE$), which can lead to cell apoptosis-induced @PHENOTYPICFEATURE$ in non-hibernators.	false
+83a0ae0d4aef7595347d5f2314ce6f70caeff9ef	We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn @DISEASE$ of protein glycosylation characterised by @PHENOTYPICFEATURE$, neurological dysfunction and a unique pattern of physical abnormalities.	false
+009529084dac31d054cf167a7cd61197aa5a4952	Methylmalonic acidemia (MMA) is an inborn @DISEASE$ of organic acid metabolism that occurs in infancy with hypotonia, vomiting, dehydration, lethargy and @PHENOTYPICFEATURE$ and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia.	false
+4f032c87c328c6641421d2654aa2014d22ec488a	As the heart is a metabolically active organ, inborn @DISEASE$ in metabolism (IEMs) often present with cardiac manifestations such as cardiomyopathy, @PHENOTYPICFEATURE$, and valvular dysfunction.	false
+96c4fe8f3f6eb0211b09e8c0abcdc741c76bfc90	Early repolarization syndrome (@DISEASE$) is an inherited @PHENOTYPICFEATURE$ syndrome associated with sudden cardiac death.	false
+cc024c4aeec4a949631005387c0d43275dc5cf8a	Glutaric Aciduria type 1 (GA1) is a metabolic inborn @DISEASE$ and is characterized by increasing excursion of glutaric acid and its derivates, presented in @PHENOTYPICFEATURE$ and dystonia.	false
+4e0773b2da72e90daef6acbf45632b996403daf5	@DISEASE$ in 2 patients with a mutation in FAM20 A and atypical @PHENOTYPICFEATURE$ and hearing loss phenotypes.	false
+7e457986d09986beb46dff5c8d384e25b6875521	The patient suddenly showed @PHENOTYPICFEATURE$ and cortical blindness with severe hypertension due to renal insufficiency approximately 1 year after cessation of corticosteroid treatment for @DISEASE$ nephritis.	false
+df98004ecb26e9ff5e15110f37dac61db9862e8c	This report describes a patient with mild @PHENOTYPICFEATURE$ and mental retardation, who was found to have @DISEASE$ following her presentation with acute encephalopathy and chorea shortly after initiation of valproate therapy.	false
+92ff42a2966391388d31c0bc2e1c13d439484b4e	[A case of @DISEASE$ suggesting vasogenic @PHENOTYPICFEATURE$].	false
+eed7b624f371b88be2fdf38899b7cda4800509ab	Eighteen limb segments in eight patients with @PHENOTYPICFEATURE$ secondary to @DISEASE$ underwent correction using the Ilizarov technique.	false
+943d017d17c0807d295deebcb6719e7dbd50c23a	Osteotomy to correct metaphyseal deformities or @PHENOTYPICFEATURE$ epiphysaria never should be performed before @DISEASE$ is healed.	false
+4bf5920cd80515e9a85dc08c5ff5c65f8d97d358	Celiac disease is a systemic immune mediated disease which usually presents with gastrointestinal symptoms, but it may present with extra gastrointestinal manifestations such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8e8491b3c6586ca46211e088b9af87397f015d20	Although recent improvements in intestinal failure patient care have led to significant improvements in the morbidity and mortality rate, children with intestinal failure are at risk for multiple complications such as intestinal failure associated liver disease, recurrent septic episodes, central line complications, @DISEASE$, impaired kidney function, and @PHENOTYPICFEATURE$.	false
+c701ce499ca1bc6aa90bac1f0b7eb22242b37701	@DISEASE$ is a common skeletal dysplasia with severe @PHENOTYPICFEATURE$.	false
+80e6d0a7b730091d789e828c0605889faf81371d	In other cases the cause of @PHENOTYPICFEATURE$ was hypothyreosis and @DISEASE$.	false
+3b374a708320011ba9fbef64e4a3abe40cc6c332	This syndrome is characterized by a tetrad of @DISEASE$, post axial polydactyly, and hidrotic ectodermal dysplasia, mostly involving teeth and nails and a high frequency of congenital @PHENOTYPICFEATURE$, most frequently a common atrium.	false
+3dc723f3bdeda14e118ac6bf472aea4e6df26afe	Although autistic-like behaviors were described even in the earliest reports of @DISEASE$, it was only recently that fetal alcohol syndrome and @PHENOTYPICFEATURE$ were reported as a dual diagnosis in six school-aged children.	false
+29dd4f736d2100624748b69e36b59c383802eff1	Although autistic-like behaviors were described even in the earliest reports of fetal alcohol syndrome, it was only recently that @DISEASE$ and @PHENOTYPICFEATURE$ were reported as a dual diagnosis in six school-aged children.	false
+ad8782b20067d9b9fa8aa502e449e8f48884f5f7	Children suspected to have FASD with or without sentinel facial features of @DISEASE$ and @PHENOTYPICFEATURE$ should potentially be evaluated by a clinical geneticist and possibly have genetic investigations as appropriate to exclude other etiologies.	false
+ab74a6904c0be5694a56979bd6e73e6193652840	Preservation of hippocampal volume has been reported in congenital hyperplasia, children with @DISEASE$, anorexia nervosa, attention-deficit and @PHENOTYPICFEATURE$ disorder, bipolar disorder, and panic disorder.	false
+946df4a8a3bae8d2f568bc9c03dc1d717634fe39	Among these girls, a higher frequency of @PHENOTYPICFEATURE$ and @DISEASE$ was observed.	false
+834e77920c06dc1478eb3e68d316edb3907eabe1	The patient with head circumference at the fourth percentile had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5db21b0153483af12d7937e632a365a980998e71	VIP has been linked to @PHENOTYPICFEATURE$, Down syndrome and @DISEASE$.	false
+b99090150f123c6dd51fba68f240ef9ce2d8d071	Alcohol-related damages on newborns and infants include a wide variety of complications from facial anomalies to @PHENOTYPICFEATURE$, known as @DISEASE$ (FAS).	false
+b4278bf2bfbfb7ac563b33a3c676d0f6ca4c8a15	Alcohol consumption during pregnancy may result in a wide range of morphological and @PHENOTYPICFEATURE$ termed fetal alcohol spectrum disorders (FASD), with the most severe cases diagnosed as @DISEASE$ (FAS).	false
+738964faf3b3bbd1bfaede6f7c300fab08ced329	Three exposed children were affected with congenital abnormalities (atrial septal defect type II, @PHENOTYPICFEATURE$, @DISEASE$).	false
+52651b2890a4cfc9aec1f9031d204652318e1778	@DISEASE$ (FAS) is associated with intellectual disability and @PHENOTYPICFEATURE$.	false
+61215cec109c75a8c197dba270809929fe8cc547	The aim of this study was to investigate the incidence of @DISEASE$ (NET) in an acute appendicitis cohort, as well as to investigate the behavioral form of the @PHENOTYPICFEATURE$.	false
+bb45a9d843b9ba7ac7ead6a520dcb318dca9f794	@DISEASE$ are rare, clinically challenging @PHENOTYPICFEATURE$ that are typically incidentally diagnosed, have a poorly understood biology and have controversy surrounding their management.	false
+5de187a3b6fc072769cc43691a8f0c8b43674f1c	We conducted a retrospective clinicopathologic and immunohistochemical study of the biologic significance of mesoappendix infiltration in 15 @DISEASE$ selected from a series of 42 primary @PHENOTYPICFEATURE$.	false
+0f68edc64763271a22cb6afcda4c8a41928f6d6f	We evaluated the latest pathological criteria for completion right hemicolectomy (RHC) in patients with @DISEASE$ (ANETs) with emphasis on the size of the primary @PHENOTYPICFEATURE$.	false
+213654380830402e2a300dbfc3f03fe1ef07e933	Indications for additional right hemicolectomy (RHC) with lymph node (LN) resection after appendectomy for @DISEASE$ (A-NET) remain controversial, especially for @PHENOTYPICFEATURE$ between 1 and 2?cm in size.	false
+6d8e942c23b16acc21d0eda6e6ff722597929776	After the histopathological analysis of the appendectomy specimens, a total of 28 patients were detected as having appendiceal neoplasm including appendiceal adenocarcinoma, low grade mucinous @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0e1ed26924507fa4a4573e657bd8488dd9916397	An @DISEASE$ G1 (NET G1; carcinoid) was diagnosed immunohistologically. Neither CT nor US visualized the @PHENOTYPICFEATURE$ because of its non-tumor-forming but infiltrative growth.	false
+f54761c2eb61678e9cc72e7d3e697559a7f698d2	New insights emerged last decade that enriched our knowledge regarding the biological behavior of @DISEASE$ (NETs), which range from totally benign @PHENOTYPICFEATURE$ less than 1cm to goblet cell carcinomas which behave similarly to colorectal adenocarcinoma.	false
+dfdd7eb307fc0078b577920cca85fb93083e9779	@DISEASE$ (ANEN) are mostly indolent @PHENOTYPICFEATURE$ treated effectively with simple appendectomy.	false
+13d5ef4085ab46a6863ee13092d1d86590496fe7	A case of @DISEASE$, associated with severe pulmonary @PHENOTYPICFEATURE$, managed with bilateral lung transplantation from a brain-dead donor.	false
+1dac0f6aabe1c3a120dfc36188f907ce4fd226ee	Familial dementias, which include Alzheimer disease (AD), familial British dementia (@DISEASE$), and familial Danish dementia (FDD), are caused by dominantly inherited autosomal @PHENOTYPICFEATURE$ and are characterized by the production of amyloidogenic peptides, neurofibrillary tangles (NFTs) and neurodegeneration (St George-Hyslop and Petit, 2005; Garringer et al., 2009).	false
+0585ceb571ad8a1f7f81ddc4a807266a58e6e846	This article summarizes manifestations of @DISEASE$ @PHENOTYPICFEATURE$, common obstacles to treatment, and practical HCC pain management.	false
+776428adc3c38680bf99ad933d55e3844288fc26	@DISEASE$ has also been found in patients with sympathetic tumors or with primary hepatic @PHENOTYPICFEATURE$.	false
+0518672204837470f53bd0cebcf50a6de654ceb8	@DISEASE$ has also been found in patients with sympathetic @PHENOTYPICFEATURE$ or with primary hepatic tumors.	false
+f8eb6a70590d0bf126ce8a62bb5c7e078a54b608	Secondary @DISEASE$ was found in two of 46 children suffering from @PHENOTYPICFEATURE$, leukemia, liver disease, inherited metabolic disorders, cystic fibrosis and celiac disease.	false
+5639c7dec34ffcdb0d6ef1a4fc620780ae93e3d3	Occurrence of secondary @DISEASE$ in children with inherited metabolic disorders, liver diseases, @PHENOTYPICFEATURE$, cystic fibrosis and celiac disease.	false
+78e90b1a97e778517f6f68d6084d10968bec464e	By contrast, patients successfully treated for neuroblastoma, as well as patients with a variety of other @PHENOTYPICFEATURE$ or diseases, do not show @DISEASE$.	false
+574f40a5068af4139a21af21b354b93d6a4e3aa7	Since @DISEASE$ and vitamin B6-deficiency were not only seen in blood-relations but also in relatives by marriage there was no fixed correlation to individuals with @PHENOTYPICFEATURE$ or their relatives.	false
+ee4199992e2d2b415290b7157ab23243fe1ad60b	Two groups of child dystonic syndromes can be distinguished: 1) dystonic syndromes where dystonia is the main @PHENOTYPICFEATURE$; they result mainly from toxic and anoxic disorders and from @DISEASE$) dystonic syndromes with associated dystonia and intellectual impairment; they are often familial neurometabolic disorders.	false
+56bac20ba1abbc858b9b9019eb218bdfa4679525	@DISEASE$: @PHENOTYPICFEATURE$ due to a non-MRI-visible endolymphatic sac tumor despite targeted screening.	false
+e6c725d1418088d0f8f3ea39033f96549a8a88c7	Lower brain stem hemangioblastomas in the context of @DISEASE$ show an often gradual onset of signs and symptoms except for patients who develop an obstructive @PHENOTYPICFEATURE$.	false
+26cc885a7903a7a42d485a813508383ea11243b0	In cases in @DISEASE$ the cerebello-pontine angle should be included in routine radiological examinations to detect ELST before the tumours lead to @PHENOTYPICFEATURE$.	false
+e1b04cff3183a4a8edad5fc6257daad50bf73ee0	@PHENOTYPICFEATURE$ due to bilateral endolymphatic sac tumours in a case of @DISEASE$.	false
+9a62d2839abb8c3f5ce8706211173b60ffb230ca	She had a thirty-year history of treatment for intracranial hemangioblastoma due to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c513e80e710d85a8e883b4297567dee7bf594ff5	In a patient with @DISEASE$, tumour growth in the right cerebellopontine angle caused @PHENOTYPICFEATURE$.	false
+6cdba64018e6fbb284917b6bc025b954d3348187	A family with @PHENOTYPICFEATURE$ as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the @DISEASE$ gene.	false
+1de001fd6b7b9645067a1846ad7b6f73f9974932	We report on a Japanese @DISEASE$ family in which two of the three affected members developed acute occlusive @PHENOTYPICFEATURE$ that necessitated emergency surgery for ventricular shunt or drainage.	false
+641570b168f79c5e38456d49da219b3ceaa34c53	Recognized risk factors for RCC development include smoking, hypertension, @PHENOTYPICFEATURE$, as well as von Hippel-Lindau (@DISEASE$) disease.	false
+820d705b9bc72c947e5a064c3589ad4336bdab6f	Recently, it has been appreciated that patients with @DISEASE$ may develop endolymphatic sac tumors, which can cause tinnitus or @PHENOTYPICFEATURE$.	false
+9e50a8b9bf6233dc24ac54aeba9255846efd259a	@PHENOTYPICFEATURE$ and hoarseness are commonly found in @DISEASE$, but, to our knowledge, a specific xerostomia has never been reported.	false
+90ee8902499f2f366e564b385486042fa7718961	Patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) resulting from fumarate hydratase (@DISEASE$) mutations may present with skin, uterine, and @PHENOTYPICFEATURE$, with each having unique pathologic features.	false
+a6473f877cabeccad1a18a47712b3d08c9e30871	We provisionally propose to split @DISEASE$ in two phenotypically distinct subgroups, and to delineate here a 'new' variant with @PHENOTYPICFEATURE$ and severe mental impairment.	false
+803274e31eaaf52afd846ea18d69d8ed06b72ed6	Patients also manifested a unique syndrome of extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, @PHENOTYPICFEATURE$, omphalocele, sensorineural hearing loss, dry and @DISEASE$ skin, skeletal abnormalities, renal agenesis and neuromotor delay.	false
+5bbaa230261967b1935dfad64e65b83a6ee78b61	A 73-year-old man initially presented with epigastric @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ involving the whole pancreas.	false
+ab102a1f12cd9a707def577ee1ca00b5913595b2	The autosomal dominant spinocerebellar ataxias (@DISEASE$) are a heterogeneous group of degenerative diseases presenting with @PHENOTYPICFEATURE$, limbs ataxia, dysarthria and cerebellar oculomotor disturbances.	false
+66d90a2c843f5dba31e900c4a9ade6475ab37cdd	We herein present one such interesting report of a diffuse serous cystic adenoma (@DISEASE$) and co-existent PNET in a 25-year old lady who presented with @PHENOTYPICFEATURE$ for past 6?months.	false
+9d30a380292433e6f58d56d6fa08d5fe42f3c427	presented with @DISEASE$ and SUA, respectively, as defined by the Global Initiative for @PHENOTYPICFEATURE$ criteria.	false
+3776c3fae2e8914c313b78c9530ee7ffe11b269e	The prevalence of intracranial @PHENOTYPICFEATURE$ in children with @DISEASE$ classified as at low risk of stroke by TCD mean velocity <170 cm/s is high.	false
+45bcaf7f85a1608561f66376733966ad4b205afb	A 47 year old female developed multifocal Langerhans cell granulomatosis (Hand-Schuller-Christian disease) manifesting as papulo-pustular, nodular, crusted and @DISEASE$ lesions, xanthelasma, ulceration of gingival mucosa with loss of teeth, vaginal granulomatosis, diabetes insipidus, multiple @PHENOTYPICFEATURE$ bone lesions and honeycombing of the lungs.	false
+a7d921f505bbe51ef50ced210297bc7ec5bba8c8	Such conditions, include cystic fibrosis, HIV/AIDS, @PHENOTYPICFEATURE$, @DISEASE$, hypophosphatasia, Prader-Willi syndrome, Tricho-dento-osseous syndrome, tuberous sclerosis, familial steroid dehydrogenase deficiency and epidermolysis bullosa.	false
+9fe8da23d394113d70832d5eed4164e00714bc73	@DISEASE$ is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy.	false
+53ff731fcab2eb6f379501480444db0307768814	@DISEASE$ is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, obesity, type 2 diabetes mellitus and chronic nephropathy.	false
+e1fb1033bb1cfe08c0afa5445982c1c3696524f6	@DISEASE$ (ALMS) is a very rare genetic autosomal recessive disease, characterized by early-onset severe abdominal obesity, impaired glucose tolerance or type 2 diabetes with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive @PHENOTYPICFEATURE$ or retinitis pigmentosa and neurosensory hearing loss or deafness, cardiomyopathy, and other endocrine disorders.	false
+64f99aeaa3d6ba9a591c94d443c7b7fbea110571	@DISEASE$ is characterized by childhood obesity, progressive retinal degeneration, and @PHENOTYPICFEATURE$ with diabetes mellitus (DM) developing later in childhood and adulthood.	false
+7004fba400eecc94d355afd6ef1fc3371974ef67	@DISEASE$ is characterized by childhood obesity, progressive @PHENOTYPICFEATURE$, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood.	false
+cf3f39ad0b807820a6f8dba2336f083b6599d740	The investigations demonstrated truncated obesity, @PHENOTYPICFEATURE$ and impaired glucose tolerance and @DISEASE$ was diagnosed.	false
+40d25d0319bacd5dc9b9fff0f0670d8035abba9b	@DISEASE$ is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive @PHENOTYPICFEATURE$, truncal obesity, and acanthosis nigricans.	false
+7078181167b876837a3e728cc4400d1b33411940	These implicit and explicit @PHENOTYPICFEATURE$ in IEI and @DISEASE$ may maintain processes of somatosensory amplification.	false
+dbf3785fa2d7a24a7bf694681dabce557e13350f	All the patients had some neurological symptoms (headache, dizziness) and chronic arterial insufficiency of the right arm, five patients had clinically and arteriographically detected subclavian steal syndrome (@DISEASE$) with vertebrobasilar symptoms (@PHENOTYPICFEATURE$ and syncops).	false
+067ad0451aff725aea9ee072594a1ef26ab0d149	Symptoms of @DISEASE$ are due to vertbrobasilar insufficiency or ischemia of the ipsilateral upper extremity, and they may include dizziness, syncope, @PHENOTYPICFEATURE$, arm claudication, hand numbness or a decrease in brachial blood pressure on the affected side.	false
+b776cedc32d95f537213f48792fab5568bf76a55	@DISEASE$ (HNPP) and hereditary motor-@PHENOTYPICFEATURE$ type IA (HMSN IA) are quite distinct clinical entities recently associated to deletion and duplication, respectively, of the 17p11.2	false
+9b82a9de1a835d9eeb7ec25646bfe11d2cdf9ea7	@DISEASE$ (NS) is a disorder of RAS- mitogen activated protein kinase (MAPK) pathway with clinical features of @PHENOTYPICFEATURE$.	false
+572a1ee76743da7d696622273a99ff5ee8456ffe	@DISEASE$ (NS) is a @PHENOTYPICFEATURE$ predisposing disorder.	false
+abd6dbcf67352d86d444ee531024c6e1b67b6c74	The frequency and spectrum of @PHENOTYPICFEATURE$ in @DISEASE$ have not been well documented.	false
+17f5abc4d70e364d4a419c3aae42961b4db66c86	Because mutations found constitutionally in @DISEASE$ are also found in several @PHENOTYPICFEATURE$ in adulthood, we evaluated the potential contribution of RIT1 to leukemogenesis in Noonan syndrome.	false
+02c7c985f1bb7b2e414862eca69a9eac69505493	Because mutations found constitutionally in Noonan syndrome are also found in several @PHENOTYPICFEATURE$ in adulthood, we evaluated the potential contribution of RIT1 to leukemogenesis in @DISEASE$.	false
+33cfe4b55e381a40dadaffacab7260bf096c57c1	@DISEASE$ is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, @PHENOTYPICFEATURE$, lymphatic malformations, and bleeding difficulties.	false
+8aad58a4a106062cbaef476d54e126802b0b1a61	One case had @DISEASE$, another had cerebral palsy and the case with pyelectasis had hydronephrosis, dilated ureters and some @PHENOTYPICFEATURE$.	false
+1986721f59eb2658a44741b148380cffd5bebf9f	One case had @DISEASE$, another had cerebral palsy and the case with pyelectasis had hydronephrosis, @PHENOTYPICFEATURE$ ureters and some contractures.	false
+3696e0566786f18644154833cad33f1823e5c434	Upper abdominal ultrasound was performed to establish the frequency of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d6bee6a41ceefa44e75b5071b69ef105274fdf76	Multiple subcutaneous granular-cell @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+2bb542869e1d578510fd484d4399bca2d6e5c56c	K-Ras(V14I) -induced @DISEASE$ predisposes to @PHENOTYPICFEATURE$ development in mice.	false
+55c542fc31d256c56cbe3b207fe79989f652cca7	The frequency of @PHENOTYPICFEATURE$ in @DISEASE$ is 11%, which is lower than that seen in Turner syndrome.	false
+182874879594725fa734d2454da036ffa1a82c35	A 2-year-old black boy with the @DISEASE$ was first evaluated because of @PHENOTYPICFEATURE$ and hypocalcemia.	false
+0c050fd98f402e6809a7c0cc6e69dc3a2772df57	[Diaphyseal tubular stenosis (@DISEASE$), with @PHENOTYPICFEATURE$ as an associated malformation].	false
+3d5fbb3bcd1420d3ea0098528c81cd0d77a63601	The @DISEASE$: @PHENOTYPICFEATURE$ and hypocalcemia in a young boy.	false
+b48602ca54b8f7db104b6e186735c34a06f24bc9	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal intelligence.	false
+656ad976a17ffe816fcf000e6a9828efc1978d62	Other aetiologies included hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (5/37, 13?5%) and one patient each with autoimmune polyglandular syndrome type 1, Kearns-Sayre syndrome and @DISEASE$.	false
+8792b5c9ccdb5075ed5c702abce644bb085af46d	An 18-month-old girl presented with clinical manifestations of @DISEASE$ including @PHENOTYPICFEATURE$, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism.	false
+c7090bad06335370594a28bbe4b0b2dee0e730ea	To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with @DISEASE$ (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) @PHENOTYPICFEATURE$.(1,3)	false
+4f2252a2995811b2c3287ab6bf91e882d7e1cc9f	A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, @PHENOTYPICFEATURE$ epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of @DISEASE$ is described.	false
+fb952821f94843e2f1f9913d6f532705aabaa24f	In contrast, a patient with @DISEASE$ is described who developed acute @PHENOTYPICFEATURE$ and respiratory failure during low-dose prostacyclin infusion, leading to death.	false
+08629ad9c9954292d1cf0e50be6c2de91eebeda8	@DISEASE$ is characterized by a poor prognosis and the possibility of developing severe @PHENOTYPICFEATURE$ with specific PAH therapy.	false
+e0f7ad3b0c39bb6950b8b65c9ecd4e3dea4499b8	Different from other types of PAH, @DISEASE$ patients have a dismal prognosis because of the progressive nature of pulmonary vascular involvement and fatal @PHENOTYPICFEATURE$ induced by PAH-targeted drugs.	false
+fb2f12aa72b199bf3abb5e2052e59127b7ff1ee2	Several pulmonary arterial hypertension-specific agents may cause @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d5f35fb4128bda224cb438f6fa8ce54dc6ecbde	Sleep cardiac @PHENOTYPICFEATURE$ and EEG oscillations in @DISEASE$.	false
+03e0590c67e775469889509639fa07fe5e5b433b	There is persistent urinary loss of IGFBP-2, IGFBP-3 and @DISEASE$ in children with SDNS in remission with @PHENOTYPICFEATURE$.	false
+109c9d33d1a3c86e848c383b84250a27087b7d9e	[@DISEASE$ with @PHENOTYPICFEATURE$: report of a case and review of the literature].	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+f80f24227d429e4a3cf0029efce7046846d01af9	Alzheimer's, Parkinson's, Huntington's, @DISEASE$) and @PHENOTYPICFEATURE$.	false
+b1ab38ac4d1e87a1df1a3621d842a1df8d252446	Ablation of the Igfals gene in humans (@DISEASE$ deficiency) and mice (ALS knockout [ALSKO]) leads to markedly decreased serum IGF-I levels, @PHENOTYPICFEATURE$, and impaired skeletal acquisition.	false
+93bd82e1190fdc72a289381b39cc61932e5ac283	Ablation of the Igfals gene in humans (ALS deficiency) and mice (@DISEASE$ knockout [ALSKO]) leads to markedly decreased serum IGF-I levels, @PHENOTYPICFEATURE$, and impaired skeletal acquisition.	false
+fcb58d9f5b541a38853cbbb7ba1bf951f73f02b2	The three characteristics for better prognosis after prehospital cardiac arrest were found to be as follows: being witnessed on collapse, receiving prompt @DISEASE$, and @PHENOTYPICFEATURE$ on arrival at hospital.	false
+a99d9caab6bf178427170d4225fc110d96861baa	All patients were suffering from advanced disease: cancer, @DISEASE$, @PHENOTYPICFEATURE$.	false
+bdef9aae5886fbe83db5e423f6df6d15e970bd45	Requests for euthanasia: origin of suffering in @DISEASE$, @PHENOTYPICFEATURE$, and cancer patients.	false
+623a379101cfd3fe36cae5896f7cebfb60bc12bf	@PHENOTYPICFEATURE$ was diagnosed at the final stage of the @DISEASE$ disease.	false
+baa7d1b161058f7754f3e87747ced7da3a390ff7	Kaposi sarcoma (KS) is an endothelial @PHENOTYPICFEATURE$ etiologically related to @DISEASE$ herpesvirus (KSHV) infection.	false
+8a005336b6b830e923f33d8676d71828f49537cc	@DISEASE$ (KS) is an endothelial @PHENOTYPICFEATURE$ etiologically related to Kaposi sarcoma herpesvirus (KSHV) infection.	false
+377294cab5ce854fc05e987481816023941f77bf	@DISEASE$ and gastrointestinal stromal @PHENOTYPICFEATURE$ were excluded.	false
+00e6ad46aee5ef13c7643e5b7e9f1d574c95be47	@DISEASE$ (KS) is a lymphangioproliferative @PHENOTYPICFEATURE$.	false
+368ed7f7dae918bb87c0e1b01921327d6591a404	Overview: @DISEASE$, oral @PHENOTYPICFEATURE$.	false
+b888d0c5ed00dd64cb8eb3ee645608ed736047cc	@DISEASE$: a byproduct of @PHENOTYPICFEATURE$ rejection.	false
+d76f84f47f1f1dcc3efaf59732563d60ba6df38e	[@DISEASE$: a virus-induced @PHENOTYPICFEATURE$?].	false
+77159b73efd65672fe987df953203459a38c5970	@DISEASE$ (KS) is an endothelial @PHENOTYPICFEATURE$ causally linked to Kaposi's sarcoma herpesvirus (KSHV) infection.	false
+c4f6bc3e757e95f71b7067a9478cb6bc12af4f8e	Kaposi's sarcoma (KS) is an endothelial @PHENOTYPICFEATURE$ causally linked to @DISEASE$ herpesvirus (KSHV) infection.	false
+d3700c521525e07afea6b7cd3ca880af4a9aa846	@DISEASE$ (KS), caused by Kaposi's sarcoma herpesvirus (KSHV), is a highly vascularised @PHENOTYPICFEATURE$ of endothelial origin.	false
+58e43ebf228e206c1cabc0f260a918c90e42e21a	Kaposi's sarcoma (KS), caused by @DISEASE$ herpesvirus (KSHV), is a highly vascularised @PHENOTYPICFEATURE$ of endothelial origin.	false
+de48070d49922ed57712ccfb7642d25d720a55de	@DISEASE$ is a @PHENOTYPICFEATURE$ of reticuloendothelial system.	false
+f3fa51b387cb7d792a0c995e00308666d50897b1	@DISEASE$, and other @PHENOTYPICFEATURE$.	false
+b689f57d8636bcef6674a88e5ee2433880e709cf	In the present study, clarification of the prevalence of the Brugada-type electrocardiogram (ECG) and the incidence of spontaneous @PHENOTYPICFEATURE$ (VF) that occurred with the Brugada-type ECG in patients with sick sinus syndrome (@DISEASE$) was determined.	false
+4ab5c5db5575d954450281942b6e38c62ff99d39	Dizziness, black spell, syncope, short of breathness and @PHENOTYPICFEATURE$ due to cardiac arrest or severe bradycardia are often observed in patients with atrioventricular(AV) block or sick sinus syndrome(@DISEASE$).	false
+e179fa389b9675b4a96b7fb7b54777a8e5bc7cf6	In MS there was a 16% increase in @DISEASE$ area (p?=?0.01).The findings suggest that changes in SSS cross-sectional are common between MS and SIH patients, while in @PHENOTYPICFEATURE$ and IIH these are different.	false
+7b36b32e5b97ba109875e5b1ead17fa688945f83	Six months after a fracture of the left clavicle beginning of bilateral @PHENOTYPICFEATURE$ and tinnitus as the only symptom of an angiographically proved subclavian steal syndrome (@DISEASE$).	false
+df4b9d4efeab2de1354d562901108bfb9cb9923a	We attempted to evaluate changes in blood flow in the superior sagittal sinus (@DISEASE$) in children and to assess the hypothesis that restricted venous outflow attributable to stenosis of the jugular vein causes @PHENOTYPICFEATURE$ in achondroplasia.	false
+3ac3a369859e7f978ee3a5a187a295a80c516719	Heart disease includes coronary heart disease (CHD), @PHENOTYPICFEATURE$, atrial fibrillation, valvular disease, sudden cardiac death (SCD), sick sinus syndrome (@DISEASE$), cardiomyopathy, and aortic aneurysms.	false
+287747806f1b3fd3abefa704e625de01ecd7ba5e	Congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and dysmorphism is a rare autosomal recessive syndrome among Arab population commonly known as Sanjad-Sakati syndrome(@DISEASE$).Several metabolic and septic complications are known to manifest in the neonatal age.	false
+9f24a6ea2527262ed4ec5e725bb9f64c9ac0b580	Congenital hypoparathyroidism, @PHENOTYPICFEATURE$ and dysmorphism is a rare autosomal recessive syndrome among Arab population commonly known as @DISEASE$(SSS).Several metabolic and septic complications are known to manifest in the neonatal age.	false
+e6e0ac7e5d6fe31c43fef5d45533db3f404f74f3	There is growing awareness of sick sinus syndrome (@DISEASE$) and related arrhythmias as treatable causes of epilepsy, syncope, dizziness, confusion and some psychoses, as well as non-neurological symptoms such as episodic @PHENOTYPICFEATURE$, pulmonary edema and palpitations.	false
+5306dfc798efb967067e43d7fb8a9bcf603eebce	Five patients presented with features of sick sinus syndrome (@DISEASE$) (Group A) while the remaining 8 patients (Group B) had no detectable @PHENOTYPICFEATURE$.	false
+e0c53b92f58470e8c8e1c0f98f29c7266b5cbdf3	While half of the patients with @DISEASE$ after AFL ablation experienced transient SSS, @PHENOTYPICFEATURE$ was associated with irreversible SSS.	false
+b082d7646366299d69544770cab9d2218b72ffe4	Congenital @DISEASE$, pigmentary degeneration of the retina and @PHENOTYPICFEATURE$ (Oliver-McFarlane syndrome): 28-year follow-up of the first reported case.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+3bffc7f424a7a25ea96060c1ec41b93db1a98879	The features of @DISEASE$ include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+9c1193a124ba86e811d6208c8388613658a6e08d	@DISEASE$ is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and @PHENOTYPICFEATURE$.	false
+cb8893a02a709ed7bba987c287b8fa5fbda54b0a	@DISEASE$: episodic hyperpnea, @PHENOTYPICFEATURE$, retardation and ataxia, associated with dysplasia of the cerebellar vermis.	false
+6dc13aa0da2588d6fcb6c5108e4b5b49f5bb7932	Exome sequencing identifies novel mutations in C5orf42 in patients with @DISEASE$ with oral-facial-@PHENOTYPICFEATURE$.	false
+ee74b26b98b2285bbdedf7b32e863087c2d1a9ab	The @DISEASE$ is characterized by hypotonia, ataxia, facial dysmorphism, @PHENOTYPICFEATURE$, irregular breathing pattern and cognitive impairment.	false
+01a3cba48bd44eb65e88ed371dfdd9ea3249fe19	@DISEASE$ (JBTS) is an inherited ciliopathy giving rise to NPHP with cerebellar vermis aplasia and @PHENOTYPICFEATURE$.	false
+1620f481f4ea872908c1d64f413068193b58f12a	The goal of the study was to quantify the @PHENOTYPICFEATURE$ that occur in @DISEASE$.	false
+7884f89a3d24ddaa92c2740aeb9fb6e9c1a0f8de	@DISEASE$ is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and @PHENOTYPICFEATURE$.	false
+7fa4c72fd0ef96628005be3d5e163723bcdc3c1d	@DISEASE$ (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, @PHENOTYPICFEATURE$, and hypotonia.	false
+4b3398595f7ec2c2339a9d7ca8f1743ae1fa7e1d	They were monitored for post-TACE complications: postembolization fever (PEF), @PHENOTYPICFEATURE$ (NV), abdominal pain, infection, acute hepatic decompensation (@DISEASE$) and acute kidney injury (AKI).	false
+634f6128593371d17f803d2d391117f79049555e	They were monitored for post-TACE complications: postembolization fever (PEF), nausea and vomiting (NV), @PHENOTYPICFEATURE$, infection, acute hepatic decompensation (@DISEASE$) and acute kidney injury (AKI).	false
+d0a986b98e5eacf8040a126d9a30c4dc8cfb4d23	@PHENOTYPICFEATURE$ is demonstrated in metachromatic leukodystrophy, @DISEASE$, adrenoleukodystrophy, disorders of amino acid metabolism, trauma, hypertensive disease, radiation effect, diffuse hypoxia with acidosis, and other conditions, i.e., both in disorders of myelin metabolism and in conditions in which normal myelin is injured by extrinsic influences.	false
+590b3f4c4f21f8c62edc7a572da7cd66e5922019	Mutations in the CSA and CSB genes cause @DISEASE$ rare inherited disorder characterized by UV sensitivity, severe @PHENOTYPICFEATURE$, and progeriod symptoms.	false
+81853d2f58eafdab734a22f6a8a458ff493fda3b	A case of early myoclonic @PHENOTYPICFEATURE$ with the @DISEASE$.	false
+b5b6416643ed7b6e94f9d2f0dd9ca34672a5bae6	@DISEASE$ presenting with cerebral venous thrombosis, hypocalcemia, and @PHENOTYPICFEATURE$ in the neonatal period.	false
+246df1dfcf2ca36215bf125e93feee857b684ab4	A 41-yr-old woman with hoarseness, multiple @PHENOTYPICFEATURE$, and generalized myalgia was diagnosed with @DISEASE$ (SLE) 7 mos before visiting our clinic.	false
+238d396e82383f3e03d1722aa129abefbeebe3ec	A 45-year-old woman with @DISEASE$ presented with multiple @PHENOTYPICFEATURE$, coldness in fingers and toes, and Raynaud's phenomenon.	false
+2dfb458ed360e7fec012c4968fe2c749cfe9236f	Lower limb pitting @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2f4666a3fc1e29f729ea0e44c24cef3c46d7eb7f	[Two cases of @DISEASE$ presenting with disc @PHENOTYPICFEATURE$].	false
+cae0ff2d2fe01c49578c499e64567ba7f3579767	Patients with @DISEASE$ develop @PHENOTYPICFEATURE$ due to immune dysregulation and treatment with immunosuppressive agents.	false
+225c3cdef86629ce16fdc451124f288aa9635a2d	This is a case report of a 16-year-old girl recently diagnosed with @DISEASE$ (SLE) who presented with multiple @PHENOTYPICFEATURE$ on the face, hands, arms, legs, trunk, and vaginal and oral mucosa.	false
+2a06b989848546408ff8098f7a3fac2d136fd4ef	Increased prevalence of JC polyomavirus viruria was associated with arthritis/@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+36e560516ed0bb0ebfc0e16c62d5c3d5ba1b944d	[@DISEASE$ in an elderly man with hepatic involvement, @PHENOTYPICFEATURE$ and increase in tumor markers].	false
+4cadbddd0f9780b7d0dcdceefc656a40d72ef696	We enrolled consecutive @DISEASE$ patients with arthritis/@PHENOTYPICFEATURE$.	false
+6627384bc41037e3ee94da98a7b4acce753ee348	A 29-year-old woman with @DISEASE$ (SLE) developed dyspnea, hemoptysis, pleuropericarditis, and azotemia shortly after an episode of arthritis and progressive @PHENOTYPICFEATURE$.	false
+945f22f7499cd24724347c5659cc8c0f48055e33	ARF patients with DH, bacterial flora, fungi, cytomegalovirus and pneumocystic infection, pulmonary @PHENOTYPICFEATURE$ involvement, pulmonary lesions in @DISEASE$, non-infectious lesions of the lungs after bone marrow transplantation were found in 38, 18, 40, 18, 8 and 4% of cases, respectively.	false
+41fb92fb73a3571d02fea3ee04b5d2f22b324780	The complete remission rate is increased and survival time is prolonged in APL patients who receive chemotherapy plus ATRA, whereas @DISEASE$ and other ATRA-related adverse effects including pseudo @PHENOTYPICFEATURE$ cerebri, headache, severe bone pain, mucosal and skin dryness, hypercholesterolemia, and cheilitis may be observed especially during induction phase of the treatment.	false
+0329e92235008de62679687ee0e948629208e12c	Pertinent laboratory findings included @PHENOTYPICFEATURE$, @DISEASE$, and lymphopenia most severely affecting CD4(+) T cells.	false
+e1f3c2e2cb82da9b873ea8ae78bb79fc41f55991	Laboratory tests revealed lymphopenia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+caa7de9f1bba400aab6e116b82c26c677926020a	Laboratory examinations showed lymphopenia, hypoproteinemia, @PHENOTYPICFEATURE$, @DISEASE$, and elevation of alpha-1-antitrypsin (alpha1-AT) clearance.	false
+8caccc1d5dd081c0043208f9482b7b6cd6c7bcdf	He presented with @PHENOTYPICFEATURE$, developmental delay, Asperger syndrome, thrombocytopenia, recurrent infections and @DISEASE$.	false
+2924601f301a790dd48b66fcb73c8fab0e72441b	Accordingly, such donors develop hypoproteinemia, @PHENOTYPICFEATURE$, @DISEASE$, and abnormal electrophoretic patterns.	false
+b14b2b295504bb5970d3cb306dc293e8f9dc53c1	Other features included short stature, microcephaly, psychomotor retardation, B-cell lymphopenic @DISEASE$, sensorineural deafness, retinal detachment and @PHENOTYPICFEATURE$, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia.	false
+a2d2e712c57791a27a374b05976e0da90a4614c8	Other features included @PHENOTYPICFEATURE$, microcephaly, psychomotor retardation, B-cell lymphopenic @DISEASE$, sensorineural deafness, retinal detachment and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia.	false
+1cce59c5bc7361b2761885073f9ac0db28a8aec9	She had severe serum hypoproteinemia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ef0f2a9167b8664c6193eedc0c4ea0ab47075c09	Electrophoresis revealed hypoproteinemia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+47f168ff5a05143f9b4a666c1cdd3719e5b3a862	@DISEASE$, neutropenia, @PHENOTYPICFEATURE$, and abdominal pain.	false
+3d9a109f1e3e67db1516c668401b8f8b59d6b945	However, one of these children also displayed @PHENOTYPICFEATURE$ and two @DISEASE$.	false
+1c9fb39f8943d3e57c985e6032a0f045c0f6a38c	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and @DISEASE$ (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	false
+d6fc8a79517973caf416804af7cf3438af4715d3	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (@DISEASE$)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	false
+71fac8aa31c914e79fe0ed8864a13628e0511b75	Some particular cases motivated the description, report and review about other possible applications of 5HT2A and 5HT3 antagonist, particularly Mirtazapine and Olanzapine, in hyperalgesia syndrome, @PHENOTYPICFEATURE$ and @DISEASE$ by JC virus.	false
+22fe6ebdc049346c8a842e554bca9b18dcfa885e	Finally, additional cases of @PHENOTYPICFEATURE$ and demyelinating syndromes (including cases resembling @DISEASE$) have been reported that appear to be related to the tumor necrosis factor-alpha antagonists.	false
+1383807d9f3c617c3e3cc7f40a41c938f06c206c	Additional rare reported complications include systemic lupus erythematosus-like syndromes, @PHENOTYPICFEATURE$ and demyelinating syndromes (including cases resembling @DISEASE$). Ongoing post-marketing surveillance of these and other serious adverse events is necessary to determine the true incidence rates, and whether a reassessment of the overall risk-benefit of tumor necrosis factor-alpha antagonists will be required.	false
+5c810215dfd0d6df144a0fdd5b99089df63c77fc	The pathogenesis of optic disc @PHENOTYPICFEATURE$ in type-I diabetes is, according to Hayreh (1981), ischemia of different grade in the district of the posterior ciliary arteries: microangiopathy, rheological anomalies and atherosclerotic @DISEASE$ lesions produce a variability of clinical pictures of increasing seriousness.	false
+8d0f4325f711e8cae74f0e7fab4fcb9338e8dc05	In a cross-sectional study 101 hand dermatosis patients (49F, 52M) with psoriasis (n = 26), vesicular hand @PHENOTYPICFEATURE$ (n = 33) or contact dermatitis (n = 42) were examined with regard to dermatological [diagnosis, severity, Erlanger Atopy Score (EAS)], allergic (patch test) and psychological aspects [Coping with Chronic Skin Diseases questionnaire (CSD), Allover Depression Scale (@DISEASE$), Social Readjustment Rating Scale (SRRS), questionnaire for measuring Factors of Aggression (FAF)],and Visual Analogue Scales (VAS) concerning itching, scratching and impairment.	false
+b442db55cb6a4b76146d18f95a4fd7d810da71a8	From its first application in @DISEASE$, through the years, its application has evolved to vascular angiogenesis and @PHENOTYPICFEATURE$.	false
+0be0a2093b6a40e8643bfa27b2c77ee5fe63fe79	4. Describe the management of five of the more common congenital hand anomalies (syndactyly, @PHENOTYPICFEATURE$, thumb duplication, hypoplastic thumb, and @DISEASE$ dysplasia).	false
+a25f330389d402f8570bb98634e0bd4806ea42df	A general approach to the patient and the goals of treatment are reviewed, as is the approach to five specific congenital hand anomalies: syndactyly, @PHENOTYPICFEATURE$, thumb duplication, hypoplastic thumb, and @DISEASE$ dysplasia.	false
+e2675279a966808b9cd18d9cfb31315f6db1f1c6	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+8de163fcb5c487861ebe5c1c2e7600a91e0f94f3	All children presenting with @DISEASE$ longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+3094747bd65455132c7c6fdc13ab8aeadf517ac6	VACTERL association is an acronym made of associated defects including @PHENOTYPICFEATURE$, anal atresia, cardiac, tracheal-esophageal fistula, and renal/@DISEASE$ limb anomalies.	false
+5feb98cf9d2c7d311f08f19cb3ce1a171cef19e6	The VATER association is a combination of @PHENOTYPICFEATURE$, anal stenosis, tracheo-esophageal fistula, and @DISEASE$ anomalies.	false
+40be130802be9399a3c474d1baa65df085e5b6a0	The cases of twenty-eight patients with the VATER association, which consists of various combinations of @PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula with esophageal atresia, @DISEASE$ dysplasia, and renal anomalies, were reviewed.	false
+0cfaf742ca73e735b936cfafba88629d2b84f7ce	The @DISEASE$ dysplasia/imperforate anus/@PHENOTYPICFEATURE$ syndrome (the VATER association): Developmental aspects and eye findings.	false
+c9f666871d1ac9da78512e582ba5e8988fcd2fcc	VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of @PHENOTYPICFEATURE$, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, @DISEASE$ dysplasia.	false
+0f4eedb748caeab6c3a74884a680648508c38cd7	The developmental evaluations of four children of different age groups with @DISEASE$ dysplasia/imperforate anus/@PHENOTYPICFEATURE$ syndrome are presented.	false
+7ffc7fd790f951a3b5f0346c9b7cdc8a3947cb61	The VATER association is the sporadic non-random association of @PHENOTYPICFEATURE$, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and @DISEASE$ limb dysplasia.	false
+78b31cda1bb06a3b95a45b0a927e7cce5a25ccd5	Other features in individual cases include cleft palate, @PHENOTYPICFEATURE$, anal atresia, @DISEASE$ and sensorineural deafness.	false
+ba89e48e8cf78e33279fbb70e6571843fd285986	To identify gene signatures in transitional cell carcinoma that can differentiate high-grade T1 nonprogressive (T1NP) bladder cancer (BCa) from those T1 progressive (@DISEASE$) @PHENOTYPICFEATURE$ that progress to muscularis propria-invasive T2 tumors.	false
+5e935c8b3fa8bdc8c83c5382a999d58d9aeb72f0	To identify gene signatures in transitional cell carcinoma that can differentiate high-grade T1 nonprogressive (T1NP) bladder cancer (BCa) from those T1 progressive (@DISEASE$) tumors that progress to muscularis propria-invasive T2 @PHENOTYPICFEATURE$.	false
+c090f765f1d55d28bf7083297dbe25ae6ed003af	Our aim was to determine the frequency of orthostatic @PHENOTYPICFEATURE$ (OE) in patients with @DISEASE$ (IIH).	false
+63da46ed11c7b41aa34da828bcdd7ba1502f0771	Because a diagnosis of @DISEASE$ can have an absence of optic nerve @PHENOTYPICFEATURE$, taking a detailed history and performing a thorough examination are keys to diagnosing IIH in the pediatric population.	false
+29d37252e5d9fc2c0253a35b8873d6a11fb1b63e	[Shwachman-diamond syndrome as cause of infantile @DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+33656da94bf96d9b95ddc4293eea3b7d5b17d75b	A 10-month-old infant is described who suffered from extensive @DISEASE$, failure to thrive, hypoalbuminaemia and @PHENOTYPICFEATURE$.	false
+8edba673de3c272369dd18b27ee0849fd29570d5	A 10-month-old infant is described who suffered from extensive @DISEASE$, @PHENOTYPICFEATURE$, hypoalbuminaemia and oedema.	false
+7bdd99c9ac1fda14e7020929bca076c2688f51a6	blister, @DISEASE$, @PHENOTYPICFEATURE$) and long-term (e.g.	false
+e4a4293259021389b1bc1240b2f690896737452c	[Chronic @PHENOTYPICFEATURE$ @DISEASE$ in gloves in ichthyosis].	false
+e57f2daad43b409533818f7ed938525d17f04667	She had coarse facial features with extensive @DISEASE$, multiple @PHENOTYPICFEATURE$ scars, florid dental caries, retained primary dentition, hypermobile joints and a woody induration of the vulva.	false
+785eaaf3e6f39aa79a66c54f6fd2544ef6cdd932	@DISEASE$-like non-erythrodermic leukemic variant of CD3(-/+dim) CD4(+) cutaneous T-cell lymphoma preceded by cutaneous papular @PHENOTYPICFEATURE$.	false
+61b9a8e4b3193499b1637a069bbe133c3bc65b60	Other symptoms and diseases associated with Yusho included orthostatic hypotension, @PHENOTYPICFEATURE$, dysgeusia, Basedow's disease, hoarseness, cardiac insufficiency, tachycardia, @DISEASE$, and hair loss.	false
+1cc3102fdba77b28c31f2c2b98eed1d77066af6a	To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$) is unknown and vascular complications are not known to be associated with this syndrome.	false
+8f503031922ca6f62c01cf1dba154e4782b51c8f	To date, the genetic basis of Dubowitz syndrome (short stature, @PHENOTYPICFEATURE$, facial abnormalities, @DISEASE$) is unknown and vascular complications are not known to be associated with this syndrome.	false
+80016be32e2a9cbaed7995a26751fa0512865f16	[@DISEASE$ @PHENOTYPICFEATURE$].	false
+48d2b279829787c92de21ab5da42265f6cefe8c3	A case of disseminated DLE complicated by @DISEASE$ and Sj?gren's syndrome: link between @PHENOTYPICFEATURE$ and skin manifestations.	false
+9136330cb4f3a290ba1aafa18db4fbcfc60d432f	The presumptive cause of @DISEASE$ is a mobile deformable intraventricular mass leading to an episodic obstructive @PHENOTYPICFEATURE$.	false
+9dcbc1f4dd7b9310cbb15592b38cfa50c63e6b61	The spontaneous clinicoradiologic resolution of @PHENOTYPICFEATURE$ raised the possibility of ball valve obstruction of the cerebrospinal fluid outflow, i.e., @DISEASE$.	false
+e3caeb1662739c8907a7a34e7a9fb0dfbf62fef3	Mobile ventricular mass can produce episodic @PHENOTYPICFEATURE$ on changing head posture with attacks of headache, vomiting, and vertigo, triggered by abrupt movement of the head, a phenomenon called @DISEASE$ (BS).	false
+39a1d3db85fe7506255e650f1bec753a9faa6eb4	Facioscapulohumeral muscular dystrophy (@DISEASE$) DNA analysis was performed in four members who had @PHENOTYPICFEATURE$.	false
+e7d8a5817bed2d1b16b3caa7b347a229cc7c6f79	@DISEASE$ (FSHD) DNA analysis was performed in four members who had @PHENOTYPICFEATURE$.	false
+f895b9479b9c291f6b3acd27f2b5f8d8a03e6248	Linc-ROR has been shown to be dysregulated in many types of cancers, including @PHENOTYPICFEATURE$ (BC), pancreatic cancer (@DISEASE$), hepatocellular cancer (HCC), endometrial cancer (EC), and nasopharyngeal carcinoma (NPC).	false
+9026047104c48bdb906de19060eabe3040e43d10	[@DISEASE$ associated with @PHENOTYPICFEATURE$ and bronchiectasis].	false
+a35ee826e45e970bed3514090062ddd1d9fb03fa	Thus, the aim of this study was to compare the effects of statins and bisphosphonates on the metabolism (NADP?/NADPH-relation) of highly proliferative tumor cell lines from different origins (@DISEASE$-3 prostate carcinoma, MDA-MB-231 @PHENOTYPICFEATURE$, U-2 OS osteosarcoma) versus cells with a slower proliferation rate like MG-63 osteosarcoma cells.	false
+6172c4617f40eecbee557f8d37c472d793673f73	This study report the case of a child with @DISEASE$ associated with bronchiectasis and @PHENOTYPICFEATURE$.	false
+2f2e112659f6986f54c82b03c55162de03dcd102	Stiff skin syndrome (@DISEASE$) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild @PHENOTYPICFEATURE$.	false
+662f9bd6ea10d18472946acdc6d8bbb5f417d497	Mutations in the cardiac sodium channel gene SCN5A may result in various @PHENOTYPICFEATURE$ syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (@DISEASE$), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM).	false
+d4aaefcd69b3973f4d9d82e31e186be18679825e	We analyzed the prevalences and predictors of posterior ischemic symptoms and infarcts in @DISEASE$ patients and also investigated individual cases to demonstrate a clinical evidence of brain conditioning, focusing on cytotoxic and vasogenic @PHENOTYPICFEATURE$.	false
+9e91ed75bcdc8e845729767bf94d4a918c66972c	Patients were divided into three groups: Group I, consisting of 20 patients with various @PHENOTYPICFEATURE$ other than @DISEASE$ and paroxysmal atrial fibrillation (PAF) who served as controls; Group II, consisting of 18 patients with SSS but without PAF; and Group III consisted of 16 patients with SSS and PAF.	false
+8c5ccc753310f07ecaabf8922af1eca98474d42f	Patients were divided into three groups: Group I, consisting of 20 patients with various @PHENOTYPICFEATURE$ other than SSS and paroxysmal atrial fibrillation (PAF) who served as controls; Group II, consisting of 18 patients with @DISEASE$ but without PAF; and Group III consisted of 16 patients with SSS and PAF.	false
+31edf445eca833c662b8fee37caba0fe9e56c23a	Patients were divided into three groups: Group I, consisting of 20 patients with various @PHENOTYPICFEATURE$ other than SSS and paroxysmal atrial fibrillation (PAF) who served as controls; Group II, consisting of 18 patients with SSS but without PAF; and Group III consisted of 16 patients with @DISEASE$ and PAF.	false
+74b2a4174b53eca5674fa02e43242fc09e71e1a3	In addition to these widely investigated hereditary arrhythmia syndromes, there remain many other relatively less common @PHENOTYPICFEATURE$ syndromes, where researchers also have unraveled the genetic etiology, e.g., short QT syndrome (SQTS), sick sinus syndrome (@DISEASE$), cardiac conduction defect (CCD), idiopathic ventricular fibrillation (IVF), early repolarization syndrome (ERS).	false
+a5400b20915bffcb61dc4037e941cbd00e0de88a	The groups were matched for age, sex, education, disease duration, motor @PHENOTYPICFEATURE$, levodopa equivalent dose and Geriatric Depression Rating Scale (@DISEASE$) score.	false
+77c1c50f2a20f56832a1f54d656ad49a84f6057f	Three subtypes have been described: TRPS I, caused by mutations in TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and @DISEASE$ III, a form with severe brachydactyly, due to short metacarpals, and @PHENOTYPICFEATURE$, but without exostoses.	false
+203cf3b9ad97a3f8f1b3043632841a7e031800f3	Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and @DISEASE$ III, a form with severe brachydactyly, due to short metacarpals, and @PHENOTYPICFEATURE$, but without exostoses.	false
+762d794a71d9892e52cec298abfcd91a27daa35a	Clinical and biological tolerance of tiapride was excellent, with only one case of @PHENOTYPICFEATURE$ and two cases of @DISEASE$.	false
+9fd8261a255ecb2a465772393cf209356ca6a352	These lipid deficits correlate with progressive, age-dependent dendritic spine degeneration, synapse loss, neuroinflammation, @PHENOTYPICFEATURE$, and @DISEASE$ neurodegeneration.	false
+ef08f99926d604e3535d5b7ce8d88b3822c40426	VT insertion has numerous sequelae: increased susceptibility to infection, large perforation of the tympanic membrane, @PHENOTYPICFEATURE$, and @DISEASE$ hearing deterioration.	false
+1dda8b319bd9b0cbdec72577cb44220ad34fd698	Review of the literature suggests that exists a coherent sequence of changes for EEG, EOG and HR variables during the transition from normal drive, high mental workload and @DISEASE$ mental fatigue and @PHENOTYPICFEATURE$.	false
+e75ed341a53773aed24c3a33ec6b01b4239b8f18	Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and @PHENOTYPICFEATURE$ (@DISEASE$; SLS).	false
+5f45467ca836f076c4cee8e40def71beb68a5d67	To the best of our knowledge, there is no case of @DISEASE$ reported in literature which presented with recurrent neonatal sepsis without hepatomegaly, hyperbilirubinemia, bleeding disorder, vomiting, diarrhea, failure to thrive, @PHENOTYPICFEATURE$, coagulopathy, hemolysis or renal tubular acidosis.	false
+85d5bc873caa40fe72fcce09ffd2966bbb3767dd	Besides hereditary lens opacifications and rubella embryopathy, @DISEASE$ and spontaneous idiopathic @PHENOTYPICFEATURE$ occurring in children and infants were examined.	false
+52aff04a4f624bba93482650e4a81767b0657f49	They include osmotic cataract formation (diabetic, @DISEASE$ and @PHENOTYPICFEATURE$ cataracts), radiation cataracts (X-irradiation, near U.V. radiation and microwave radiation) and in senile cataract the conversion of soluble low molecular weight cytoplasmic proteins to soluble high molecular weight aggregates, insoluble phases, and insoluble membrane-protein matrices.	false
+8d8b4b7108249d8c11933af3b61cf91a486c35f2	Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6324d63e4254544cfba81ab7a04a74a1e06045cb	NICCD patients have jaundice, hypoproteinemia, @PHENOTYPICFEATURE$, @DISEASE$, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	false
+503de169d3fdc379898c9a1dc2e877ca0336ed54	This study attempted to evaluate the association of early @PHENOTYPICFEATURE$ with the risk of intestinal failure in @DISEASE$ patients.	false
+15e51ae92651b5a7505cbc6f69d6da8e43b371e5	Otsuka-Long-@DISEASE$-Tokushima Fatty (OLETF) rat, a genetic model of spontaneous development of NIDDM, exhibits @PHENOTYPICFEATURE$ obesity with hyperinsulinemia and insulin resistance similar to that in humans.	false
+837400d664fa669de45a6542804e07a852b31ec6	When transition to an alternate formula was possible, biochemical status improved shortly after introduction to the alternate formula, with @DISEASE$ improvement of @PHENOTYPICFEATURE$.	false
+6cd2b5f32c4ae20552f38ba6099b1db0a7e7456e	Two boys had a @PHENOTYPICFEATURE$ @DISEASE$ under basal conditions; the one with elevated TSH-response showed an excessive response of prolactin as well.	false
+227b88a7c2e06af64883408c28b668fc0fd70411	Dopa-responsive @PHENOTYPICFEATURE$ and mixed movement disorder due to @DISEASE$.	false
+5e8d746dc91ce096b619c2d2d8a06f4cb9a304fc	The differential diagnosis for this lesion includes, but is not limited to, pulmonary @PHENOTYPICFEATURE$, @DISEASE$, adenomyofibroma, synovial sarcoma, and visceral metastases.	false
+553f72c83ef63d5fb48c672e09bd3d3aa2c1a38d	Pulmonary neoplasms may be benign such as papilloma, @PHENOTYPICFEATURE$, and bronchial carcinoid tumor (low-grade malignancy), or they may be malignant as in sarcoma, carcinoma, and @DISEASE$.	false
+9c981694e68ae88928a3fa23b8a9f9e7e19302a2	At initial biopsy, only 50% of the AIDS/@DISEASE$ patients with EFH/mixed compared to 100% with FI/LD were symptomatic with weight loss, night sweats, diarrhea, @PHENOTYPICFEATURE$, or fatigue.	false
+6dbbeb9b62496998c77dd71fa11558debb63c39c	Ataxia with oculomotor apraxia type 1 (AOA1) is an @DISEASE$ due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, @PHENOTYPICFEATURE$, axonal motor neuropathy, and eventual decrease of albumin serum levels.	false
+fe418f4b8abfb96c0b17eb7d5232d409a1474c88	Early-onset ataxia with ocular motor apraxia and @PHENOTYPICFEATURE$ (EAOH) is one of the most common forms of @DISEASE$.	false
+fcaec4f7e6cd8d367ec611b7ed693cdacce5a8d2	Early-onset ataxia with @PHENOTYPICFEATURE$ and hypoalbuminemia (EAOH) is one of the most common forms of @DISEASE$.	false
+d14138bc27f4521052edd03858eebfb8599902ce	Ataxia with ocular motor apraxia type 1 (AOA1) is another @DISEASE$ which is associated with @PHENOTYPICFEATURE$, hypoalbuminaemia, and hypercholesterolemia.	false
+00b94fb72fb5b3ee17ce8572f6c56311eb93569a	Ataxia with @PHENOTYPICFEATURE$ type 1 (AOA1) is another @DISEASE$ which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia.	false
+90dbd22f43ac0f83daa557843cba44c24916de56	Ataxia with ocular motor apraxia type 1 (AOA1) is another @DISEASE$ which is associated with oculomotor apraxia, @PHENOTYPICFEATURE$, and hypercholesterolemia.	false
+eb8994420cf553a87db4c96a31b652a3b59ef1fb	Ataxia with ocular motor apraxia type 1 (AOA1) is an @DISEASE$ (ARCA) associated with oculomotor apraxia, @PHENOTYPICFEATURE$ and hypercholesterolaemia.	false
+10e7a6530a99301a819696670ca9ef6447e526e3	Ataxia with @PHENOTYPICFEATURE$ type 1 (AOA1) is an @DISEASE$ (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia.	false
+535ea64803a7e36067171b7d1b61a071647310eb	Ataxia with ocular motor apraxia type 1 (AOA1) is an @DISEASE$ (ARCA) associated with @PHENOTYPICFEATURE$, hypoalbuminaemia and hypercholesterolaemia.	false
+1c681fa69496dc21589373937d0a8e85243e4d41	Henoch-Sch?nlein purpura, mixed cryoglobulinaemia, hypocomplementaemia, drug and malignancy-associated vasculitis; arteritides of small and medium-sized arteries including polyarteritis nodosa, Kawasaki's disease, Wegener's granulomatosis, Churg-Strauss syndrome, necrotizing sarcoid granulomatosis, thromboangiitis obliterans (Buerger's disease) and localized forms of arteritis; arteritides involving large, medium and small-sized arteries which includes giant cell (temporal) arteritis, Takayasu's disease and arteritis of collagen-vascular disease (rheumatoid arthritis, @DISEASE$, Beh?et's disease, Sj?rgren's syndrome, @PHENOTYPICFEATURE$ and systemic sclerosis.	false
+3d1b3e3f796af3eb0ff57130253ebdac2a827720	The strength of agreement between the two data sources (as measured by kappa statistics) was substantial kappa greater than 0.6) for splenectomy, appendectomy, asthma, and @PHENOTYPICFEATURE$; moderate kappa greater than 0.4) for tonsillectomy/adenoidectomy, tuberculosis, diverticulitis, hepatitis, @DISEASE$, and drug allergy; and poor kappa less than 0.3) for chronic bronchitis, chronic sinusitis, psoriasis, rheumatoid arthritis, and most other types of allergy.	false
+8ad216e25e1f75a28edecf4e840aebd4dae13da5	This review focuses on treatment and preventive issues relevant to cardiac problems associated with @PHENOTYPICFEATURE$, @DISEASE$, and Kawasaki disease in adolescence.	false
+090c64361b26cddb67862d1f5a9f3c9b69e11c6d	The most frequent clinical features of rifampicin-induced @DISEASE$ were: Anuria, gastro-intestinal (abdominal pain, nausea, @PHENOTYPICFEATURE$ and diarrhoea) and "flu-like" symptoms.	false
+b58e6edc6d1d2a3e6e3fd07217e22c65669d3c21	We previously demonstrated that wild type and mutant EGFRs repress the expression of the @DISEASE$ tumor suppressor to promote the survival of @PHENOTYPICFEATURE$ cells.	false
+5568a22e9c8105040ecebfa9ae61b931e938809e	The proband was initially diagnosed with @DISEASE$ on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palate, redundant skin folds at the back of the neck, ventricular septal defect, broad flat thumbs, bilateral single palmar creases, left talipes equinovarus, eventration of right hemidiaphragm, and bilateral @PHENOTYPICFEATURE$.	false
+3ed1c377f302ed9c3666a3d24f3dfff30d9a886e	To review the outcomes in a series of patients with long anterior lens zonular fibers associated with @DISEASE$ who had phacoemulsification @PHENOTYPICFEATURE$ surgery.	false
+613b4864ed6e581c9fff03f03e5070520b9568d7	@DISEASE$ (L-ORD) is a rare autosomal dominant @PHENOTYPICFEATURE$, characterised by extensive sub-retinal pigment epithelium (RPE) deposits, RPE atrophy, choroidal neovascularisation and photoreceptor cell death associated with severe visual loss.	false
+48ff730baea89d10ab2b5f0d6d7ab51e35cba16c	Inclusion criteria were patients with genetically confirmed?@DISEASE$ requiring @PHENOTYPICFEATURE$ surgery.	false
+c0979d2175308a0b15e012d2c0af56c06a264fbd	In this small series of patients with @DISEASE$, @PHENOTYPICFEATURE$ surgery was successfully performed without long-term complications involving intraocular lens stability.	false
+eeb9c716673fafccef055fd87a23d1b8d784a288	@DISEASE$ (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, @PHENOTYPICFEATURE$ and occipital encephalocele, was recently confirmed as autosomal recessive.	false
+6a548d81c6a1e2398b5f95f270531edc434eb684	Mutations in the collagen XVIII gene lead to the @DISEASE$, which is characterized by high myopia, vitreoretinal degeneration with retinal detachment, @PHENOTYPICFEATURE$ and occipital encephalocele.	false
+5a7bda3079fe30854281dabca78510029a2243ee	@DISEASE$ (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, @PHENOTYPICFEATURE$ and occipital encephalocele.	false
+c764cc269f2bb7d3ca8852f706bb973f68eaaede	@DISEASE$ is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, @PHENOTYPICFEATURE$, and midline encephalocele, mainly in the occipital region.	false
+6a3788cf16db93b1d4526ddfe32ba4f3312bb0b0	Sixty-seven @DISEASE$ patients who had large @PHENOTYPICFEATURE$ between March 2003 and May 2003 underwent both plain radiographs and magnetic resonance imaging (MRI) examination on the same day.	false
+93ec5d2f6c9d0b4edbb381c3d01d76783a233f54	A large number of @DISEASE$ patients experienced large joint @PHENOTYPICFEATURE$, although this was, for the most part, not associated with any abnormality on magnetic resonance imaging.	false
+bbdb63b683f537aad0364ede185c67ca08d505d5	Cerebral magnetic resonance showed significant descent of the tonsils, hypertensive @PHENOTYPICFEATURE$ and a lesion in the left cerebellum, apparently laminar hyperintensity in DP and T2, with thickening of some folia, not enhanced by intravenous contrast and suggestive of a dysplasic @DISEASE$.	false
+38a86147d58a61ccf5d17690cd7542af344d1470	In this article, we discuss the implications for these findings as well as explore the role epigenetic mechanisms may play in the development of human genetic diseases that are caused by T-box mutations, including @PHENOTYPICFEATURE$, cleft palate, pituitary deficiencies, and @DISEASE$.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+fe2fae13b33077cf3bcdf3327c19435216abba59	Echocardiographic strain in @DISEASE$ and @PHENOTYPICFEATURE$ left ventricular hypertrophy.	false
+50f386dc8efede219e1203790a464d6465ef1a71	[Washout rate in patients with @DISEASE$ and @PHENOTYPICFEATURE$ cardiac hypertrophy].	false
+e5ed826d3b6c0161b74e1934b227b405c31d225d	@DISEASE$ in a young @PHENOTYPICFEATURE$.	false
+4e8318f11992aaf6893f5fd74aa86351f834a42e	Systolic and diastolic flow abnormalities in elderly patients with @PHENOTYPICFEATURE$ @DISEASE$.	false
+713c545ae0405a0bcf0f6697c540103bc3863721	@PHENOTYPICFEATURE$ and idiopathic @DISEASE$.	false
+c29ca9dcf2549a0faeecda6450b0507260918901	@PHENOTYPICFEATURE$ @DISEASE$ or hypertrophic cardiomyopathy with hypertension?	false
+be3e2b49508257fbf88be949b0e6c34dff78790b	@PHENOTYPICFEATURE$ hypertrophic cardiomyopathy or @DISEASE$ with hypertension?	false
+8eee2ece9d873c17478caa45e5db07c10f872a39	Hypertrophic obstructive and @PHENOTYPICFEATURE$ @DISEASE$ are compared and contrasted.	false
+713c545ae0405a0bcf0f6697c540103bc3863721	@PHENOTYPICFEATURE$ and idiopathic @DISEASE$.	false
+342a169338fe9d398da1da80c0bbf4496fc9552e	Pulmonary interstitial glycogenosis associated with pulmonary @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7bb89f4f97548454a186892c5480860189aa3765	Enhancement was seen in the ischial tuberosity, near the hamstring origin, in nearly all Van Neck patients; this pattern of @PHENOTYPICFEATURE$ may support stress reaction and callus formation as a mechanism for @DISEASE$ hypertrophy.	false
+d721cd65a4345f5eaf4beaf2a5cf39b6294bb6b8	Usually, @DISEASE$ show a submucosal @PHENOTYPICFEATURE$ area with a deeper, highly cellular component.	false
+a1cfbaf04328161635e24a1bc717078a9ccda7a8	Mutations in SLC27A4, the gene encoding FATP4, cause @DISEASE$ (IPS), characterized by premature birth, respiratory distress, and @PHENOTYPICFEATURE$ skin with severe ichthyotic scaling.	false
+88e01a9458c809e37d306b4e68eb24b0524a3625	Mutations in SLC27A4, the gene encoding FATP4, cause ichthyosis prematurity syndrome (@DISEASE$), characterized by premature birth, respiratory distress, and @PHENOTYPICFEATURE$ skin with severe ichthyotic scaling.	false
+0a373bab97012d24789de67dc4fdc791d91bdd40	The results indicate that @DISEASE$ and some matrix features of the apical border plaque in severe periodontitis in certain aspects resemble those of sub-contact area plaque on children's teeth, in health or associated with early chronic @PHENOTYPICFEATURE$, and with those in chronic adult periodontitis.	false
+4d0961c8dc4a0f7c7532c2074e66c72db8084920	@PHENOTYPICFEATURE$ epilepsy (PSE) is the most common form of reflex epilepsy presenting with electroencephalography (EEG) paroxysms elicited by intermittent photic stimulation (@DISEASE$).	false
+33d0d782bf80261e873d532e4000c73c9418c0b2	Umbilical cords of intra-partum stillbirths (@DISEASE$) were classified as adhered or ruptured and subdivided into four categories: without pathological changes, @PHENOTYPICFEATURE$, congested and hemorrhagic.	false
+6892ba0b606c76cc188df21c1f62e6f85270ac58	We identified 106 patients, 74 @DISEASE$ patients and 32 INS patients, who had similar baseline characteristics, except for baseline NIHSS (IPS 12.9???8.2, INS 8.0???5.6, P?=?.002) and incidence of @PHENOTYPICFEATURE$ (IPS 32.4%, INS 12.5%, P?=?.034).	false
+8ff7ae71dd9b76fd6e4801e4498ef33694031c90	The aim of this study was to investigate the prevalence of @DISEASE$ in a cohort of children with neurological @PHENOTYPICFEATURE$ and cerebral cortical malformations recognized by neuroimaging.	false
+65007798694f03d6748b6dd80118c169fe6c1981	Both disorders are Mendelian mimics of @DISEASE$ with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and @PHENOTYPICFEATURE$.	false
+a39b47a16516bbce77fd7722aae1e221b5a81fc0	Human cytomegalovirus, a major cause of permanent neurodevelopmental @PHENOTYPICFEATURE$ in children, frequently produces intracranial abnormalities, including calcifications and polymicrogyria, in infants with @DISEASE$.	false
+f6069151d62897113f8d15205ca5e4286b744032	@DISEASE$: a significant cause of deafness and @PHENOTYPICFEATURE$.	false
+92f6b07fc9682c9404048bbb465efd2572b1dc49	An infant with @DISEASE$ first developed @PHENOTYPICFEATURE$ at six weeks of age.	false
+8e5568e1151452d654e1e31792e48bbd7bee50ab	Twenty-six children with neurological @PHENOTYPICFEATURE$ and cerebral cortical malformations were investigated retrospectively for @DISEASE$ by analysing the dried blood spot samples for cytomegalovirus deoxynucleic acid using qualitative polymerase chain reaction.	false
+fa2046ec8b078bfb59052aa03c629e9292f122a4	@DISEASE$ is the leading infectious cause of deafness, learning disabilities, and @PHENOTYPICFEATURE$ in children.	false
+21fd13cee9a02a5c2d81e91492176498a9088b9b	In some aetiologies, @PHENOTYPICFEATURE$ begin before the age of one; these include Down syndrome, genetic lissencephaly, @DISEASE$, hypoxic-ischaemic encephalopathy, metabolic encephalopathies, and tuberous sclerosis.	false
+807002ecc87c36a6bef81179979664c5b412f55e	Complex I deficiency causes @DISEASE$, fatal infant lactic acidosis, and neonatal @PHENOTYPICFEATURE$.	false
+18fa57c1e2aea743c75ba09bb08a4e5ab4c92375	Juvenile @DISEASE$ with protracted course presenting as chronic sensory motor neuropathy, ataxia, @PHENOTYPICFEATURE$ and retinitis pigmentosa: a clinicopathological report.	false
+e891cad666da93aec1ea2b39283ef8e1220cd82c	The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include MELAS, MERRF, @DISEASE$, PEO, @PHENOTYPICFEATURE$, diabetes, sideroblastic anemia, myoclonus, skeletal myopathy, cardiomyopathy, and renal tubular acidosis.	false
+32b57836ef17ac4b7a89f8f6508b4a8994a06065	The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS); A8344G and T8356C for Myoclonus Epilepsy and Rag-Red Fibers (MERRF); G11778A, G3460A and T14484C for Leber's Hereditary Optic Neuropathy (LHON); T8993G/C and T9176G for @DISEASE$; A1555G for @PHENOTYPICFEATURE$ syndrome; G4298A, T10010C, T14728C and T14709C for neuromuscular syndrome.	false
+69d9f22ae938ea5f1f37a8bfdeabd0384dd0d81b	Only two COX15 mutated patients, one with severe neonatal @PHENOTYPICFEATURE$, the other with rapidly fatal @DISEASE$, have been described to date.	false
+13d6d8913ed9b96fcd56ad8b8a4232d2fad9db9b	Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (@DISEASE$, @PHENOTYPICFEATURE$, 3-methylglutaconic aciduria).	false
+7a89a7da418957805b48b7ea931a61eccdd41e59	We analyzed the entire mtDNA and 11 nuclear encoded complex I subunits in 23 isolated complex I-deficient children, classified into five clinical groups: @DISEASE$, progressive leukoencephalopathy, neonatal @PHENOTYPICFEATURE$, severe infantile lactic acidosis, and a miscellaneous group of unspecified encephalomyopathies.	false
+e7aedf4b5708cb9025b749487ba069d275eed45c	Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d06ceabdd6992eb50331a83a24f746d64f2dd383	The authors report a new case of @DISEASE$, an infrequent and peculiar clinical condition characterized by @PHENOTYPICFEATURE$ of the extremities associated with alterations in the development of Mullerian derivation structures.	false
+4d94599b6ae39c489de2a9c9e4fbc707b0aab099	@DISEASE$ is a rare autosomal dominant condition characterized by distal @PHENOTYPICFEATURE$ and urogenital malformations.	false
+3d76e00bcc79e612c4dfef9bd6e94b94bcc265db	Based on genomic rearrangements and copy number variations, the contactin-associated protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such as Gilles de la Tourette syndrome, intellectual disability, obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, @PHENOTYPICFEATURE$, schizophrenia, @DISEASE$, and attention deficit hyperactivity disorder.	false
+30cdbfc5c8c3b29f68fe7fa14619e695b2c38060	[Clinical and therapeutical problems in children with @PHENOTYPICFEATURE$ and @DISEASE$].	false
+8058b9f3de0959c80d9f7b0124c04469538c63c3	Atrial fibrillation and @DISEASE$ were the most common complications associated with @PHENOTYPICFEATURE$.	false
+7cc67dced89ee681fb69fd28b91f6c92c575ab49	Patients with @DISEASE$ may develop varying degrees of pancarditis with associated valve disease, @PHENOTYPICFEATURE$, and pericarditis.	false
+3851c38f42bd733e4cb6bbaa67d6d7a9f80f1783	@DISEASE$ or infectious endocarditis, particularly due to pneumococcal or Haemophilus influenzae infection, may trigger @PHENOTYPICFEATURE$.	false
+a9024910053d5d809fb3431b462d2c8502c11964	There were 16 late deaths due to @PHENOTYPICFEATURE$, anticoagulation related bleeding, thromboembolism and recurrence of @DISEASE$.	false
+4c83c0066fbd39de3219761fca03510042e3d860	The early diagnosis of @DISEASE$ is very important for the course of the disease, because appropriate measures (secondary prophylaxis) can prevent recurrence and severe rheumatic @PHENOTYPICFEATURE$.	false
+2c62f1e2f6425ccb1451a350b0b90213efdfc869	The high incidence of arthritis and @PHENOTYPICFEATURE$ provoked confusion with @DISEASE$.	false
+c3ef1721de4f3b0bded2f4e5849182429576f696	[Infection prevention in children with @PHENOTYPICFEATURE$ and penicillin prevention of @DISEASE$].	false
+9224e5168baa8dbbd09ee88e9799e21b7831d988	[Peculiarities of the clinical picture of @DISEASE$ in patients with aortic @PHENOTYPICFEATURE$].	false
+58776cc161377819d9ef0f59f898eb745c41a4af	Babies with @DISEASE$ have to be monitored for several metabolic derangements like hyponatremia, hyperkalemia, @PHENOTYPICFEATURE$, and acidosis and have to be managed accordingly.	false
+bc715afd3604063926926b28a8d041a9ec7a837e	Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial @PHENOTYPICFEATURE$, two with congenital bilateral anorchia, and one with @DISEASE$) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5? reductase deficiency).	false
+3f53787c958b1b106b804e98da3dcf2812ebea2b	Disorders such as @DISEASE$ and @PHENOTYPICFEATURE$ are relatively rare and it can be difficult to conclusively evaluate patients with these conditions.	false
+299efc76c6026eef32edf6a8b3a02e2d2a5ff289	DSDs can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (@DISEASE$) (both ovarian and testicular tissues); and @PHENOTYPICFEATURE$, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads).	false
+c65ec5336c18860ab89db75ce3bc24f3d9122cca	The 45,X/46,XY karyotype has been associated with @PHENOTYPICFEATURE$ (MGD) and @DISEASE$ (DSD).	false
+f7c77a11194bb075ec67926a225e76c3db8e2b12	This technique of vaginoplasty, simple in its realization and answering the purpose of treatment with few complications, can be used in the feminizing genitoplasty of young children with 46,XX DSD, @DISEASE$ (true hermaphroditism), @PHENOTYPICFEATURE$ and dysgenetic male pseudohermaphroditism.	false
+e53df35984e5af884493261412a9889fd270290d	@DISEASE$ due to 47,XYY/46,XY/45,X @PHENOTYPICFEATURE$ in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes.	false
+e48ec50e4bae8dd63897faa0632761621d7fd11d	Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had @PHENOTYPICFEATURE$ with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had @DISEASE$) and 7 had other 46,XX DSD.	false
+6729ce96fefdd8f079163bf1396e8428ccdd94ad	Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete @PHENOTYPICFEATURE$, and 1 patient had @DISEASE$) and 7 had other 46,XX DSD.	false
+914c84b84d7f03c5b19044df086602582df851a8	There were seven patients with 46XY dysgenetic testicular DSD (4 mosaic Turner, 3 @PHENOTYPICFEATURE$), seven patients with 46XY non-dysgenetic testicular DSD (4 persistent Mullerian duct syndrome, 2 complete androgen insensitivity syndrome, one unknown), two patients with @DISEASE$, one patient with 46XX DSD (congenital adrenal hyperplasia) and one patient with 46XY DSD complete sex reversal.	false
+4cadb71cfd807aebf0c70dbe44d8a172add89b52	Therefore, on the basis of the characteristic muscle pathology and skeletal deformities observed, we concluded that this patient corresponded to the congenital form of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+e7511537cea3ea30140fa8c24577e97505886013	We describe a patient with a phenotype resembling @DISEASE$, but with delta phalanx and @PHENOTYPICFEATURE$ and ribs.	false
+c75ab1eebccaad046298a74c9a82cc5d04759879	Furthermore, both individuals have @PHENOTYPICFEATURE$, a feature that has not yet been associated with @DISEASE$.	false
+cb27a78848a366e11cbcdc3dcb3216333199c8e5	[Ectopic renin-secreting orbital @DISEASE$ associated with juvenile @PHENOTYPICFEATURE$ and hypokalemia; a case report (author's transl)].	false
+24b488a374a4b5e8b5f1b1ad667f69bbf9b3aa46	A case of ectopic renin-secreting orbital @DISEASE$ associated with juvenile @PHENOTYPICFEATURE$ and hypokalemia.	false
+0b8af10c897fd2073f7bd7ed85dcc4581ad32e75	@DISEASE$ is a nonlethal subtype of multiple pterygium syndromes, characterized by webbing across the joints, congenital joint contracture, @PHENOTYPICFEATURE$ and a variety of other congenital anomalies.	false
+205bf655667a3ad7fec699c6aa10c14f676d2e7d	@DISEASE$ (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by @PHENOTYPICFEATURE$, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies.	false
+b23d04182116435b5a82ed65981e848e2822bd31	The histopatology of the @PHENOTYPICFEATURE$ was @DISEASE$.	false
+fd08c76a2b14c657bc996510a55b43478c316cb2	@DISEASE$ (PTPR) is a recently described @PHENOTYPICFEATURE$ entity thought to arise from the specialized ependyma of the subcommissural organ.	false
+1204cdf1c2e7804a3e9f3c7b113521a03384c5e7	@DISEASE$ and spindle cell oncocytoma of the pituitary: new @PHENOTYPICFEATURE$ entities in the 2007 WHO Classification.	false
+d6d832023860a8ff73b6a2ff77d566f44341c391	@DISEASE$ (PTPRs) are malignant World Health Organization grade II/III @PHENOTYPICFEATURE$; however, they may perfectly mimic benign tumors (e.g., pineocytomas [World Health Organization grade I]).	false
+a011df8bffd1f7e7ad1826a56f9b79ff6b2ee01d	@DISEASE$ (PTPRs) are malignant World Health Organization grade II/III tumors; however, they may perfectly mimic benign @PHENOTYPICFEATURE$ (e.g., pineocytomas [World Health Organization grade I]).	false
+c9e49918a1dbb7ab7047e7de9f2ee0c6b63701dc	Increased VEGF levels in one case of @DISEASE$ with intracranial haemorrhage at presentation: a potential surrogate indicator of @PHENOTYPICFEATURE$ angiogenesis and aggressiveness?	false
+2e838580b9df7667bed9f2362345df8a40764aad	These combined findings led to the diagnosis of a @DISEASE$, a @PHENOTYPICFEATURE$ not previously described in dogs.	false
+9cae52becdae1ec979974c8daf2f551c59b31fd0	This type of tumor was later proposed to represent a new distinct @PHENOTYPICFEATURE$ subtype, @DISEASE$ (PTPR).	false
+d46fb73bb2a6a5648eee441dd3d946145ec16286	This type of @PHENOTYPICFEATURE$ was later proposed to represent a new distinct tumor subtype, @DISEASE$ (PTPR).	false
+0941cfbf26f47a32d6ce6c72f43efd58a487072d	@DISEASE$ (PTPR) is an uncommon @PHENOTYPICFEATURE$ recently added to the WHO classification of CNS tumors.	false
+418c2fb1f9c1c621419de5a4db2aa8a9ab5f0f38	@DISEASE$ (PTPR) is a recently defined @PHENOTYPICFEATURE$ entity.	false
+7c463bad09e3a3714e768f7378afae9e7a8d0573	@DISEASE$: report of a rapidly progressive @PHENOTYPICFEATURE$ with possible multicentric origin.	false
+c199ba3d3411a549e2743e394e7124e3214d78a5	The main presenting features of the infants with @DISEASE$ were @PHENOTYPICFEATURE$, lethargy and jaundice.	false
+0960694f87f8075fb2a19f022a7f0ed0115b3fee	A retrospective study of 109 patients with @DISEASE$ showed that malignant @PHENOTYPICFEATURE$ had developed in seven patients, the expected incidence being 2.93, giving a relative risk of 2.38.	false
+0a6db5db3ba34bbc813d86ef319fdf3f58e6b0eb	A small subgroup of eight patients with linear IgA @DISEASE$ were also studied: three developed malignant disease and in one the @PHENOTYPICFEATURE$ was a lymphoma.	false
+a7b3e49a7e32841e3c69030ac5f6da60d07fbcea	Additional immune-mediated conditions, such as diverticulitis, bowel-associated dermatosis-@PHENOTYPICFEATURE$ syndrome, Henoch-Sch?nlein purpura, @DISEASE$, and Degos disease, in which the skin and GI system are mutually involved, will also be discussed.	false
+4709784e759dc89dc9ee357d8663637d2223c8e0	Associations: atopy (22.3%), depression (17.2%), thyroid disorder (15.9%), @DISEASE$ (11.5%), diabetes mellitus types 1 and 2 (4.5%) and @PHENOTYPICFEATURE$ (4.5%).	false
+706382fafbefb59cbb100247233de16a7bad9a7d	Polymorphism of the @PHENOTYPICFEATURE$ necrosis factor genes in patients with @DISEASE$.	false
+53819aa2dcd5c978b579a49a67a2b9f60c216a3d	Studies of cancer risk in celiac disease (CD) or @DISEASE$ (DH) indicate increased risks for malignant lymphoma and occasionally other @PHENOTYPICFEATURE$, but are characterized by small numbers, lack of systematic cancer assessment, and subjects identified from referral institutions.	false
+61b094e44eff168a68e88fc6c5bc9f250fd15300	Three out of 4 patients with coexistent diabetes mellitus and @DISEASE$ (DH) developed severe @PHENOTYPICFEATURE$ which resulted in death in 2 of them.	false
+a9a4dfd01955ef302278b5bef4717a191fdbeaac	screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for oculocutaneous @PHENOTYPICFEATURE$ type 6 (@DISEASE$) disorder.	false
+26b5813fa9b9a2244472bcddf46ac8ee68817c46	[Relationship between @PHENOTYPICFEATURE$ and cardiac function in @DISEASE$].	false
+1a9aa38222bb87968a3df07cdc4690800b1b05ef	[@PHENOTYPICFEATURE$ in @DISEASE$.	false
+ae1dbdcdb3c4731e66318b3d943e19c8f8933ce3	The mechanisms of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5f972b2f40ce4e16eab5d3932eaacb38dff2afb8	Noninvasive prognostic markers for cardiac death and @PHENOTYPICFEATURE$ in long-term follow-up of subjects with chronic @DISEASE$.	false
+7178c60ad757e5923c395f28f899b72a2e4a27fd	Cardiac sympathetic denervation for intractable @PHENOTYPICFEATURE$ in @DISEASE$.	false
+adb760ac86a9903111ea81ad45b7bb3c68e68eab	Eighty one patients with @PHENOTYPICFEATURE$ associated with chronic @DISEASE$ participated in this multi-clinic study.	false
+dbbde2b4b69b82eebc0bd387e25e6ee2ea49415d	This designation includes, but is not limited to, arrhythmogenic right/left ventricular cardiomyopathy, cardiac amyloidosis, sarcoidosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+eb6c6b60590c09ceaa9fa7ac0d8acd4802b17824	@DISEASE$ patients had a lower left ventricular ejection fraction and more frequent @PHENOTYPICFEATURE$ during Holter monitoring.	false
+690fe484754eebac99fe254455fe2fa1d33dedf0	[Association between left ventricular wall motion abnormalities and @PHENOTYPICFEATURE$ in the indeterminate form of @DISEASE$].	false
+a08c51a8e6c20840ae2d7646712f1601a75fcfe9	@DISEASE$ (ChD) may lead to life-threatening heart disease, including malignant @PHENOTYPICFEATURE$.	false
+95fe33ae4201f857b078052fac0e5ef2614e5732	In early stages, overexpression of @DISEASE$ decreases tumour formation while at later stages overexpression of Sca-1 seems to drive @PHENOTYPICFEATURE$ towards malignant progression.	false
+f9120c123e32ca823a8bee791e7debcba9dfc58e	In early stages, overexpression of @DISEASE$ decreases @PHENOTYPICFEATURE$ formation while at later stages overexpression of Sca-1 seems to drive tumours towards malignant progression.	false
+2fa62c0750bef28d4c0fdb9131f5589c1d1c08be	LANP has been implicated in disease biology as well, both as a mediator of toxicity in @DISEASE$ and as a @PHENOTYPICFEATURE$ suppressor in cancers of the breast and prostate.	false
+267b362aa3996a300188ba79de4cc3a44cef7337	Doubly mutant mice deficient in Sca-1 developed substantially fewer aggressive fibromatosis @PHENOTYPICFEATURE$ than wild-type (WT) littermates, but @DISEASE$ deficiency had no effect on the formation of epithelial-derived intestinal polyps.	false
+59da561b6547124735f47df8591ec88559b2769f	@DISEASE$ (OFCS) is an autosomal recessively inherited disorder characterized by @PHENOTYPICFEATURE$, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability.	false
+966d73e93c34fd11d5a048a25df5c0c7a4b43e10	Our findings indicate that CC may represent a valuable surgical option for children with medically refractory @PHENOTYPICFEATURE$ following acute encephalopathy, irrespective of genetic disorders such as @DISEASE$.	false
+504e64f8ba377756d26994769425284c5e692955	than patients with @DISEASE$-negative @PHENOTYPICFEATURE$.	false
+564f6ddcec34fba5852c79f10492da795713e2e6	These novel findings clearly allow including high-grade noninvasive bladder carcinomas in the group of @DISEASE$-positive neoplasms and might reflect a so far unknown role of AMACR racemase in the pathobiology and tumor cell energy metabolism of the latter @PHENOTYPICFEATURE$ entity.	false
+64147336e3f106550160ab2af6d19fc27f942eea	These novel findings clearly allow including high-grade noninvasive bladder carcinomas in the group of @DISEASE$-positive neoplasms and might reflect a so far unknown role of AMACR racemase in the pathobiology and @PHENOTYPICFEATURE$ cell energy metabolism of the latter tumor entity.	false
+2de66e5b0e7e0e3bc565a11cc366adae84305565	Compared to HC, @DISEASE$ patients had lower heat @PHENOTYPICFEATURE$ sensitivity, whereas PD patients had reduced NFR threshold.	false
+fa1722c24ccb4fc12c41faea0f8516910740d17b	Progressive supranuclear palsy (PSP) and multiple system (@DISEASE$) atrophy are associated with progressive @PHENOTYPICFEATURE$.	false
+0ee88a1b2bd4f1cbb34f1711e08085c0fc1a41ba	In conclusion, although there does not appear to be an association between @DISEASE$ and cancer @PHENOTYPICFEATURE$, it may be affected by inflammation or infection.	false
+2aef5c9847cd0ad3d684da0196a4268e86ceb4ed	The odds of @DISEASE$ were greater for PTSD+digestive pain, PTSD+nerve @PHENOTYPICFEATURE$, and PTSD+any chronic pain compared to having neither PTSD nor chronic pain (odds ratio range: 1.88-2.32).	false
+e07ce47607ad7c642e5016282637f2abc4cbc7cd	Both thalassemia and @DISEASE$ represent independent causes of erythropoietin resistance, and thus @PHENOTYPICFEATURE$, in uremic patients.	false
+bec41e9e6c3c90d22092671fd5d1d4c02ce8db9b	We investigated the incidence of carnitine deficiency in patients with cancer @PHENOTYPICFEATURE$, and examined the effect of the patients' demographic and clinical characteristics on pain intensity and @DISEASE$.	false
+4ac759cf46e2dd6ae98ae59a2d599b00628dd7ed	We investigated the incidence of @DISEASE$ in patients with cancer @PHENOTYPICFEATURE$, and examined the effect of the patients' demographic and clinical characteristics on pain intensity and carnitine deficiency.	false
+fc15089f171e62c4b60a317e08698f998aa75e26	Here, I present the effects of levocarnitine on renal @PHENOTYPICFEATURE$ in hemodialysis patients with @DISEASE$, focusing on the effect on dose reduction in erythropoiesis-stimulating agents and the influence on erythropoiesis resistance index.	false
+3fea3cf655a5722c707d33c1dc86ca9f2c84bc05	The patient developed hypotonia, hearing loss, mental retardation, short stature, @PHENOTYPICFEATURE$, hypoparathyroidism, DeToni-Fanconi-Debr? syndrome and @DISEASE$.	false
+1a635e84e8717438d3f43e94a930bb728cf1796f	The authors report the first known case of @DISEASE$ in a patient with @PHENOTYPICFEATURE$ that reversed with ventriculoperitoneal shunting.	false
+d86810bbfc0d7bb910fac4cd210b36d22b5ca859	Non-traumatic brachial plexopathies may be due to @PHENOTYPICFEATURE$, radiotherapy, thoracic outlet syndrome and idiopathic @DISEASE$.	false
+f8f459e765d81abe5eaa234d7ac541efc7b2829c	Complex @PHENOTYPICFEATURE$, severe bleeding disorder and 22q11 deletion: a new case of @DISEASE$ and of 22q11 deletion syndrome?	false
+cfa8b15644e8c20fc3fbe45f950e2cfa81976118	@DISEASE$ with @PHENOTYPICFEATURE$-like lesion on face.	false
+b6a0d9c0920b298537422645e29cd570f39fd0ce	@DISEASE$ in an adult presenting with end-stage renal failure together with @PHENOTYPICFEATURE$ and hypothyroidism.	false
+0f3bdaca338ade374a8cc51317e2a490c63bd4aa	A 13-year-old boy with @DISEASE$ and a successful renal allograft developed symptomatic bone disease, @PHENOTYPICFEATURE$, and hypercalciuria.	false
+7c6541d742b958eacba6ee169b2226f6f49ba5ef	Renal tubular acidosis, primary @DISEASE$ hyperparathyroidism, exogenous hyperadrenocorticism and idiopathic @PHENOTYPICFEATURE$ of infancy were the principal causes of nephrocalcinosis in this series.	false
+dd21b42e734b240d36a4d6b4ab300d7a0ee425a8	Here we review genetic and biochemical mechanisms of urolithiasis, with an emphasis on its hereditary forms, including fermentopathies (@DISEASE$, adenine phosphorobosyltransferase deficiency, phosphoribosyl-pyrophosphate-synthetase deficiency, xanthinuria, Lesch-Nihan syndrome) and these caused by membrane transport alterations (Dent's disease, familial hypomagnesia with hypercalciuria and nephrocalcinosis, hypophosphatemic urolithiasis, distal tubular @PHENOTYPICFEATURE$, cystinuria, Bartter's syndrome).	false
+8b3650e2b214b1daeb3f60249b3fbb2389da0235	Among the children with @DISEASE$ syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the @PHENOTYPICFEATURE$ in 1 child.	false
+6d3ecd67d2ee9a980df3d30ef9902ba955ba8586	We suggest that @DISEASE$ should be suspected where there is sibling recurrence of @PHENOTYPICFEATURE$, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.	false
+ef386677082c1f7ca5a3c6d2ef8e3457fe9cd160	@DISEASE$ (MPKU) is a syndrome including cardiovascular malformations (CVMs), microcephaly, @PHENOTYPICFEATURE$, and small size for gestational age, caused by in-utero exposure to elevated serum phenylalanine (Phe) due to PKU in the mother.	false
+abdc9745e7ad9d3cca43e14e72325858ccd12908	X-linked dominant hypophosphatemia rickets (XLH, OMIM 307800) is the most common @DISEASE$ and characterized by @PHENOTYPICFEATURE$, skeletal malformations, dental dysplasia, spontaneous fractures and osteomalacia.	false
+6fcfbecf573081a17f43b6671060c5a21ff98802	Phosphorylated Smad 2/3 colocalizes with phospho-tau inclusions in @DISEASE$, progressive supranuclear palsy, and corticobasal degeneration but not with alpha-synuclein inclusions in multiple system atrophy or @PHENOTYPICFEATURE$ with Lewy bodies.	false
+7407c1fdd0e1becc59d685740ec09ac228cda06e	The cause of Kl?ver-Bucy syndrome may be an injury, @PHENOTYPICFEATURE$, especially herpetic, @DISEASE$, temporal epilepsy and paraneoplastic encephalopathy.	false
+e0011f5c139214f42eb9e4aff1edcd8926c51fba	The indications for hysterectomies included seven patients with @DISEASE$, 14 with myoma uteri, one with intractable @PHENOTYPICFEATURE$, and two with endometriosis and severe pelvic adhesions.	false
+1e2955a4b03d5919d90c82d4eb4ea72c7ec14ad2	Twenty variables were evaluated by univariate and logistic regression analysis: age, history of pregnancy/delivery, gynecological open/laparoscopic surgery, PID, oral contraceptives/intrauterine device use and intrauterine operation before onset, body temperature, signs of peritoneal irritation, @PHENOTYPICFEATURE$/diarrhea, abnormal vaginal discharge, endometriosis/fibroid/@DISEASE$/any cystic lesion detected by ultrasonography, white blood cell counts/C-reactive protein (CRP) levels .	false
+f200943bd156f79a387feb71301560ae2ac99bde	Of the 5818 ablations, 437 (7.5%) involved pain (i.e., pelvic pain, dysmenorrhea, dyspareunia, lower @PHENOTYPICFEATURE$, endometriosis, or @DISEASE$) before ablation, along with abnormal uterine bleeding.	false
+712edbb83e32ac492f47edc107734515f281a916	Long-term follow-up of astrocytic @PHENOTYPICFEATURE$ of the optic disc associated with @DISEASE$.	false
+ba48e3bed6120c8a871a737abc8913d3017ba0a1	@DISEASE$ associated with astrocytic @PHENOTYPICFEATURE$ of the optic disc.	false
+2df170530c2bceab35131e2b1289e8ccabac62d8	This group, designated with the term gestational trophoblastic @PHENOTYPICFEATURE$, comprises the benign hydatidiform mole, the invasive mole (@DISEASE$) and the frankly malignant variety, choriocarcinoma.	false
+6d8f6619bf616bd7f3f91f32e4331a9fdecbac54	Gestational trophoblastic neoplasias (GTNs) are a group of pregnancy-related @PHENOTYPICFEATURE$, which include @DISEASE$ (invasive mole), placental site trophoblastic tumor, and choriocarcinoma.	false
+8f6c5542da339606d0b638d41cfacf638f038206	@DISEASE$ involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and @PHENOTYPICFEATURE$.	false
+22449a3f976617f2a71ddedc778a06728ec6bef2	Leukocyte adhesion deficiency II (@DISEASE$) is characterized by the lack of fucosylated glycoconjugates, including selectin ligands, causing immunodeficiency and severe mental and @PHENOTYPICFEATURE$.	false
+099a1690c753b7c4c58a4a1c85248701d5497259	All the subjects investigated were distributed into four groups: clinically normal subjects with normal body weight (NBW); subjects with @PHENOTYPICFEATURE$; those with @DISEASE$ and NBW; subjects with RHS and obesity.	false
+c8f662cc078a937522457f317c45fe2e1c302acd	All the subjects investigated were distributed into four groups: clinically normal subjects with normal body weight (NBW); subjects with obesity; those with @DISEASE$ and NBW; subjects with RHS and @PHENOTYPICFEATURE$.	false
+bd45d2eb033235e30924a7ae600ebc070c77918a	All the subjects investigated were distributed into four groups: clinically normal subjects with normal body weight (NBW); subjects with obesity; those with RHS and NBW; subjects with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+61aaf66e53f40e9065c3afe12afe9b8c7811a3b3	All the subjects investigated were distributed into four groups: clinically normal subjects with normal body weight (NBW); subjects with @PHENOTYPICFEATURE$; those with RHS and NBW; subjects with @DISEASE$ and obesity.	false
+50bc0399a1f4eea1df64a75b7bc4593cecd66163	Leukocyte adhesion deficiency II (@DISEASE$) is a rare condition caused by defective protein fucosylation, causing decreased leukocyte rolling, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+83a9406eda17ea6db5dbf0d3b5b6de8088826d1b	The most manifest abnormal diets were recorded in the subjects with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f31e35b6270efcca265edadfd5bb463c05ef746c	@DISEASE$ (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis and severe mental and @PHENOTYPICFEATURE$.	false
+e00cc52b0376608d6727fac4c17a351c22272299	Leukocyte adhesion deficiency type II (@DISEASE$) is a rare disorder characterized by recurrent infections, persistent leukocytosis and severe mental and @PHENOTYPICFEATURE$.	false
+f50ba43e212ae66080fc3eccb6bc4ecb94de048e	@DISEASE$ (LAD II) is a rare, autosomal, recessive inherited immunodeficiency disease that induces frequent and recurrent infections, persistent leukocytosis, severe mental and @PHENOTYPICFEATURE$, and impaired wound healing.	false
+254e830494a78718cb1a6836799f7d7eff54a446	Leukocyte adhesion deficiency type II (@DISEASE$) is a rare, autosomal, recessive inherited immunodeficiency disease that induces frequent and recurrent infections, persistent leukocytosis, severe mental and @PHENOTYPICFEATURE$, and impaired wound healing.	false
+1d87b22bb61ce38942ab051dacddaa81bb853dd5	@DISEASE$ (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis, and severe mental and @PHENOTYPICFEATURE$.	false
+ccd9852878b56196fc4a2002a909bdfe9c9ed8fd	Leukocyte adhesion deficiency type II (@DISEASE$) is a rare disorder characterized by recurrent infections, persistent leukocytosis, and severe mental and @PHENOTYPICFEATURE$.	false
+d4340515c60dbd8fa05742654a2c2befa0474a62	Clinically, patients with @DISEASE$ suffer not only from a less severe form of infectious episodes resembling the moderate phenotype of LAD I but also from severe psychomotor and @PHENOTYPICFEATURE$.	false
+fa17e0c1a6ec312d4d387b28e5a5daa348c39cdb	Finally, the @PHENOTYPICFEATURE$ antigen PRAME was identified as a specific marker for AMKL blasts, with no expression in @DISEASE$.	false
+6af86a82ddca20dfc3268ef1789e53bd84ff1a80	Patients without @DISEASE$ also showed alterations, such as atrophy and @PHENOTYPICFEATURE$, in TMJ images.	false
+273a07f480cbb0b9afa1632ef0a59ba7d5d0be3f	When diagnosing patients with @DISEASE$ symptoms, we must consider the possibility of unusual causes, including @PHENOTYPICFEATURE$ and infections or inflammations.	false
+1f01e2b6cd9528cb8b10b75b2e25068d6bd12108	No patient with @DISEASE$ and NG ever progressed to the extent of pronounced proteinuria or @PHENOTYPICFEATURE$.	false
+90785a2a67f6ca3d668f97fc8f20030b4ab32852	The following modified classification of @DISEASE$ was suggested: I. Masticatory muscular disorders, including myofascial pain, myositis, myospasm, unclassified local muscular pain, and fibrostic @PHENOTYPICFEATURE$; II.	false
+d164a16c6b701b399df7f894eb1cae58bb492fc9	RET transmembrane domain (@DISEASE$)-driven dimerization of the receptor leads to its permanent activation that eventually results in the development of medullary thyroid @PHENOTYPICFEATURE$.	false
+999eca87559049dde5cc628dc9047641728e302c	Temporomandibular joint disorders (@DISEASE$) are dysfunctions of this joint, which range from acute to chronic inflammation, trauma and dislocations, developmental anomalies and @PHENOTYPICFEATURE$.	false
+e9b892c18fd21c2940ab626aaf8e386bc5cb7d06	We analyzed 111,176 patient @PHENOTYPICFEATURE$ and identified recurrent mutations in HER2 transmembrane domain (@DISEASE$) and juxtamembrane domain (JMD) that include G660D, R678Q, E693K, and Q709L.	false
+c5331158d833bd2f939e028baf99c6caa843dec1	It is not uncommon to see a patient who complains of what seems to be a @DISEASE$ but who in reality suffers from a systematic disease, dental infection, or @PHENOTYPICFEATURE$.	false
+d587ec5a1d7d198f54636053f6a0dc0c5fd42929	Trismus and jaw pain are not only caused by temporomandibular disorders (@DISEASE$), but also by various pathologies, namely infection, trauma, or @PHENOTYPICFEATURE$.	false
+2c2373c2c99124377ce42518ade2cf7ce9803fa7	The proband was initially diagnosed with @DISEASE$ on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palate, redundant skin folds at the back of the neck, ventricular septal defect, broad flat thumbs, bilateral single palmar creases, left @PHENOTYPICFEATURE$, eventration of right hemidiaphragm, and bilateral inguinal hernia.	false
+f5874c9537ea85e0d5cec6110b6a05c42e28cbc5	@DISEASE$, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a @PHENOTYPICFEATURE$ which includes occipital horns, broad clavicles, deformed radii, ulnae and humeri, narrow rib cage, undercalcified long bones and coxa valga.	false
+89632a6eef3f3edda011646b58ffc7901caf8e49	An initial report of @PHENOTYPICFEATURE$ in inactive @DISEASE$.	false
+7723a02982fd42224e9ab5039f1c481ed8cd5fb6	[@DISEASE$ and lower limb @PHENOTYPICFEATURE$: a fortuitous association?].	false
+d9d1c384fbc698ffa2d420c4ae6929e6dd2d61a9	@PHENOTYPICFEATURE$ electrophysiological screening in @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+cdb84273167f7548a8afc02c9b4803c4cb94cd03	We hypothesize that: 1) IBD are associated with increased eveningness and sleep disturbances; 2) eveningness and @PHENOTYPICFEATURE$ are related to more severe @DISEASE$ symptoms.	false
+6a9a22f8b610e0330252b4400fbdb7a3e2629d2f	We hypothesize that: 1) @DISEASE$ are associated with increased eveningness and @PHENOTYPICFEATURE$; 2) eveningness and sleep disturbances are related to more severe IBD symptoms.	false
+8f58e4e0ec03311ea46e12e9ad8ea88d33467a64	We hypothesize that: 1) @DISEASE$ are associated with increased eveningness and sleep disturbances; 2) eveningness and @PHENOTYPICFEATURE$ are related to more severe IBD symptoms.	false
+1f9ddb88c02b6d69522a8a052aeb6de2d58c18b7	We hypothesize that: 1) IBD are associated with increased eveningness and @PHENOTYPICFEATURE$; 2) eveningness and sleep disturbances are related to more severe @DISEASE$ symptoms.	false
+3a2955c0a3abad7350c873fc86f84bcb0db5d2e9	Several studies have reported a significant association between @PHENOTYPICFEATURE$ and @DISEASE$ (IBD).	false
+484a55fd26e3c64e640bf8c387c645801f3e2d4d	Several studies have reported a significant association between @PHENOTYPICFEATURE$ and inflammatory bowel disease (@DISEASE$).	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+ac51ec924476ed68a549e3691d7e17ee292eb905	Recent reports demonstrate a link between @DISEASE$ (IBD) and @PHENOTYPICFEATURE$.	false
+dcfd6eaf73eaf08869804acbd1e2e6f9d8e23d37	Recent reports demonstrate a link between inflammatory bowel disease (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+a2f5f2c2b7be0c61b386d992b73d38ed56c340ad	@PHENOTYPICFEATURE$ is often described in inflammatory bowel disease (@DISEASE$).	false
+4a1c6998afdf765a579f6836e6e210a8b80fc277	@PHENOTYPICFEATURE$ is often described in @DISEASE$ (IBD).	false
+d1e0dc30459396877380a5b54999bae43bfa7283	We recently showed that patients with inflammatory bowel disease (@DISEASE$) report significantly more @PHENOTYPICFEATURE$.	false
+13fcb25e91fd5c28780a1d5e93df63b1ce9364cf	We recently showed that patients with @DISEASE$ (IBD) report significantly more @PHENOTYPICFEATURE$.	false
+f15566a64471e91d34ffc5e67e71bf9fce4030f5	A 34-year-old woman with severe kyphoscoliosis, an immobile cervical spine, and @PHENOTYPICFEATURE$ due to the @DISEASE$ presented for elective Caesarean section.	false
+7861f4240ecf8a382bd27a12b94f27095317f770	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, @DISEASE$, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+9263269d7bd32d440b48a081ef6b53daef19acc8	@PHENOTYPICFEATURE$, mental retardation, craniosynostosis, @DISEASE$, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies.	false
+134ba08be63432cbfb5ef1cccaadc3f29a443350	In addition to these cardiovascular abnormalities, she had Wildervanck syndrome (@DISEASE$, Duane syndrome and sensorineural hearing disturbance), blepharoptosis and @PHENOTYPICFEATURE$.	false
+31a311af7992b43d112c4b6483d000a3833e80e8	[Encephalomyelopathy, cardiomyopathy, @PHENOTYPICFEATURE$ and changes in the retinal pigment epithelium resulting from a @DISEASE$].	false
+ee15a9488345b67a2109d4ef13c5d7c0d3182695	Thirty-two toxic oil syndrome (@DISEASE$) patients were selected because they presented with @PHENOTYPICFEATURE$-like changes and were observed during the first 36 months of evolution of the disease.	false
+ea33afa1af6cf1a6c25e4fe54340056d80f95d05	@PHENOTYPICFEATURE$ are recognized as potential causes of thoracic outlet syndrome (TOS); however, there is a paucity of information regarding the specific bone anomalies associated with TOS and their relative incidence among the different clinical types of @DISEASE$.	false
+cea3e13eaafd36c1c6bff78fd40fdf771e8fdd2a	@PHENOTYPICFEATURE$ are recognized as potential causes of thoracic outlet syndrome (@DISEASE$); however, there is a paucity of information regarding the specific bone anomalies associated with TOS and their relative incidence among the different clinical types of TOS.	false
+988a1fb5e3b9b0f4153441cc2f8a167c5120e804	@PHENOTYPICFEATURE$ are recognized as potential causes of thoracic outlet syndrome (TOS); however, there is a paucity of information regarding the specific bone anomalies associated with @DISEASE$ and their relative incidence among the different clinical types of TOS.	false
+16204d662abffeba1dd692befec685e80772dec4	We report the second family recognised to have @DISEASE$. The clinical features were (1) autosomal dominant inheritance; (2) peripheral, coarse pigmentary degeneration of the fundus for 360 degrees, with a relatively discrete posterior border in the equatorial region (this finding may be pathognomonic); (3) superficial punctate yellowish-white opacities in the retina; (4) various @PHENOTYPICFEATURE$; (5) breakdown of the blood-retinal barrier; (6) retinal neovascularisation; (7) vitreous abnormalities; and (8) choroidal atrophy.	false
+cfc385acb9ff1d73d1c0565256ae272e34c74892	Infant exposure to Tdap during pregnancy was associated with a higher mean birthweight (not clinically significant) and higher odds for @DISEASE$ and neonatal @PHENOTYPICFEATURE$ toxicum diagnoses.	false
+6a2dc0b0036bf6b1c9580fabf0b8688c5824b0f4	Peripheral blood samples from 48 untreated and 20 treated patients with disease entities that directly or indirectly affect hematopoiesis [dys-myelopoietic syndrome (DMS), @DISEASE$ (RAEB) or in transformation (RAEBIT), lymphoma, myeloma, acquired immunodeficiency syndrome (AIDS), and solid @PHENOTYPICFEATURE$ with uninvolved bone marrow] were measured with the Technicon H-6000 automated hematology analyzer; this instrument provides a differential count on 10(4) white blood cells (WBC) effected by means of flow cytochemistry (peroxidase content) and volume (light scatter) discrimination.	false
+0d67e3265c37cb49f8ec2ca8b4208ad73ac5f4c1	Other distinguishing features in @DISEASE$ due to ZMPSTE24 mutations may include premature birth, renal disease, calcified @PHENOTYPICFEATURE$, and lack of acanthosis nigricans.	false
+6fbf6cc9a3aa6a622ab50657089f3454e1b44035	A 60-year-old immunocompetent woman, followed for more than 10 years for temporal meningioma causing @PHENOTYPICFEATURE$ and mixed hearing loss, presented with cervical lymphadenopathy, revealing marked progression of an intracranial lesion, leading to a diagnosis of marginal zone @DISEASE$ based on histological examination of a cervical lymph node.	false
+7c6b5d49c11225c48e3e1614f6d02213fc5f1654	@PHENOTYPICFEATURE$ and chronic rhinosinusitis (CRS) both impair quality of life, but the quality-of-life impact of comorbid asthma and @DISEASE$ is poorly known.	false
+0c023314bfe27f3a1f03e793cbc066c8d64e5f5b	@PHENOTYPICFEATURE$ and chronic rhinosinusitis (@DISEASE$) both impair quality of life, but the quality-of-life impact of comorbid asthma and CRS is poorly known.	false
+4dcae959ca02bb0f57542e4cf059bd59aec02ffb	@DISEASE$ (CRS) is a global cause of preventable hearing impairment, blindness, and @PHENOTYPICFEATURE$.	false
+cebaf8a6479322a0fc87470f507ccc526cbf45f7	Congenital rubella syndrome (@DISEASE$) is a global cause of preventable hearing impairment, blindness, and @PHENOTYPICFEATURE$.	false
+118a6e1e7cd97d42c5ae92562a2ea431177efd12	@PHENOTYPICFEATURE$ was measured using the validated Parkinson's Disease-Cognitive Rating Scale (PD-@DISEASE$).	false
+89b7bfcc6010f7f6b1301865235e87d7d04045ca	ILC2 frequencies, measured as a percentage of CD45(+) cells, were compared across CRS phenotype, endotype, inflammatory @DISEASE$ subtype and other disease characteristics including blood eosinophils, serum IgE, @PHENOTYPICFEATURE$ status and nasal symptom score.	false
+2ff54aa0350ce935b663bc66c47eeadb8ff8a7e6	ILC2 frequencies, measured as a percentage of CD45(+) cells, were compared across @DISEASE$ phenotype, endotype, inflammatory CRS subtype and other disease characteristics including blood eosinophils, serum IgE, @PHENOTYPICFEATURE$ status and nasal symptom score.	false
+49ad1da08cb3dbf32bd87d7781d704c61a7f507b	In @DISEASE$ patients who had other factors contributing to headache like duration of headache more than 1?year, associated nausea/@PHENOTYPICFEATURE$, and aggravating factors like exposure to sunlight, headache persisted after medical and surgical treatment of CRS.	false
+621a7d0e3f38014d02c4c26539370f7b08986904	In CRS patients who had other factors contributing to headache like duration of headache more than 1?year, associated nausea/@PHENOTYPICFEATURE$, and aggravating factors like exposure to sunlight, headache persisted after medical and surgical treatment of @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+7bd3b77e799d5c0c18d0980b0255afb942eec816	@PHENOTYPICFEATURE$ and @DISEASE$ were not significantly different in allergic and nonallergic patients.	false
+d32d839b33f9f8a1c916956a1f42333aba11daa4	A significant interaction between @DISEASE$ and @PHENOTYPICFEATURE$ status was observed in which CRS appeared to confer a protective effect in asthma patients.	false
+76e32237c3355a56a19ccfc57a4c98c33d8e0e5d	@PHENOTYPICFEATURE$ and chronic rhinosinusitis (@DISEASE$) coexist clinically in >50% of patients with CRS.	false
+8fb53dfb701f1739a3aebfb55b9620395f68418a	@PHENOTYPICFEATURE$ and chronic rhinosinusitis (CRS) coexist clinically in >50% of patients with @DISEASE$.	false
+db2a012fc135becd86125822b278e4a5fbe7c8b1	Age ?65 years, @PHENOTYPICFEATURE$, and @DISEASE$ plus adjuvant therapy are independent positive prognostic factors of MPM.	false
+210ed391acb8738a983a538da0188fe9666639db	With proper perioperative management, patients with @DISEASE$ and @PHENOTYPICFEATURE$ can survive from prolonged fasting time before and during operation without metabolic decompensation manifestations.	false
+952a9cac25ea67d212a969a4b27b70ad495dd8e1	Proteinuria is common in patients with @DISEASE$ and is a risk factor for future development of @PHENOTYPICFEATURE$.	false
+d029c06ad764dcecbf2b84b178fdc8b5b21f619f	Membrane-physiological studies have suggested a defect of the carnitine transport system in the plasma membrane in @DISEASE$ patients and in the mouse model, juvenile visceral @PHENOTYPICFEATURE$.	false
+40dd116c2986187cdb34a3895404eadbaed55116	One of the most serious complications of @DISEASE$ is @PHENOTYPICFEATURE$, affecting about 20% of patients.	false
+38aab7b9a53b847cb12b6b6bd3a6ac9a20414180	Cardiopulmonary complications, the leading cause of adult death in @DISEASE$, are associated with heart chamber @PHENOTYPICFEATURE$, diastolic dysfunction, elevated tricuspid regurgitant jet velocity (TRV), and pulmonary hypertension.	false
+29af44b5a77935b8e4f94a764063fd56818c99b0	An asymptomatic 9-month-old boy with @DISEASE$ diagnosed by local hospital was referred to the authors' hospital for incomplete @PHENOTYPICFEATURE$ plastic surgery.	false
+87887a34e155e119d733c3637c097125ef315c81	Patients with @DISEASE$, who showed @PHENOTYPICFEATURE$, without pyramidal or extrapyramidal signs, were examined.	false
+9c8320de37f56abf23de4421ff5346b715ecd3aa	A LFNG mutation is reported in a case of spondylocostal dysostosis (@DISEASE$), a @PHENOTYPICFEATURE$ with severe malformations of vertebra and rib.	false
+577a027201807085a376a59fbe40b8f25d14f48b	Glomerular disease and @PHENOTYPICFEATURE$ cause substantial morbidity for patients with sickle cell disease (@DISEASE$).	false
+09e201a7fc17fc0112ab6ff858d52b986bed2b07	Cardiac @PHENOTYPICFEATURE$ and CI elevation in patients with @DISEASE$ are associated with haematologic variables reflecting haemolysis, RBC rigidity, and blood viscosity.	false
+fd1a8754df72e97dc9b8691f6cca8ba64a40afe0	Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (@DISEASE$), intellectual disability (ID), severe @PHENOTYPICFEATURE$ and gait abnormalities.	false
+052f748fcf5ab5a9775c6a9141d45fa905e0ee53	Carbonic anhydrase (CA) II deficiency is characterized by osteopetrosis, @DISEASE$, cerebral calcification, and usually @PHENOTYPICFEATURE$.	false
+4d2cd70d4bb676b600ed20eab9ef1647c6f4a1f0	The patient presented with @PHENOTYPICFEATURE$ and in the course of stay in the hospital developed @DISEASE$, delayed first-degree burns and myocarditis.	false
+130f7f97fde1b3ee0c5504ab47e1794bf02290bc	We describe an Italian boy with this disease whose @PHENOTYPICFEATURE$ was relatively mild and whose @DISEASE$ had only a distal component.	false
+cb7e56d5b4be55f20bceeca0f2ab3777a76e61aa	All the patients had @DISEASE$, osteopetrosis, symmetrical cerebral calcification and @PHENOTYPICFEATURE$.	false
+2f4f3e9ba0c77cb81db1aea299ff242196c855ea	[On @DISEASE$ caused by chronic pyelonephritis: a case of girl with phthisis bulbi, @PHENOTYPICFEATURE$, rickets, and chronic pyelonephritis].	false
+93fe8ddd28f5cfe72ed08586fe01d1c29c06ce8b	siblings are suffering from @PHENOTYPICFEATURE$, dwarfism, incomplete @DISEASE$ and primary cystinuria.	false
+28db63da7f4ff450d691e024532f7ec9fed6e277	Osteopetrosis, @DISEASE$ without urinary concentration abnormality, cerebral calcification and @PHENOTYPICFEATURE$ in three Turkish brothers.	false
+18d2a4a199bcd95b080097f319236c87eb0579eb	The patient presented without hypercalcemia, or urinary infection, or @DISEASE$, or @PHENOTYPICFEATURE$, or ingestion of antacids, or metabolic disease, or previous graft lithiasis.	false
+e4cbef8812ad3e0e2ba606ffc283dbc3e8608fef	One patient developed unexplained @DISEASE$, and a diffuse @PHENOTYPICFEATURE$ occurred in another patient.	false
+5866c97e4ab6d6f9af440acfe0ddeb17fdbac490	Mitochondrial disorders manifested as @DISEASE$ and recurrent @PHENOTYPICFEATURE$.	false
+da5c772f2f04d357642e44c31acaafdb67f0db11	@DISEASE$ (KS) is a malignant vascular neoplasia with a viral etiology, characterized by development of multiple hyperpigmentate lesions, primarily at cutaneous level with associated @PHENOTYPICFEATURE$ and ulcerations, but frequently involving also the mucous membranes and/or visceral organs.	false
+9e1b2da975fbafe155b9609bbe9b011b06a30bcc	@DISEASE$ (KS) is a malignant vascular neoplasia with a viral etiology, characterized by development of multiple @PHENOTYPICFEATURE$, primarily at cutaneous level with associated edema and ulcerations, but frequently involving also the mucous membranes and/or visceral organs.	false
+64af9bcaffd505bcfd1556ed6ce924aa4d7ef2e1	@DISEASE$ (KS) is a multicentric angioproliferative disorder characterized by spindle cell proliferation, neo-angiogenesis, inflammation, and @PHENOTYPICFEATURE$.	false
+19c2cf6897a3ac1a844789440ea3506d4019389e	All forms of @DISEASE$ (KS) are characterized by spindle cell proliferation, angiogenesis, inflammatory cell infiltration, and @PHENOTYPICFEATURE$.	false
+8e0e3d861060e8e6b6764bf87105454806f67b59	However, patients with advanced stage @DISEASE$ with visceral disease, tumor-associated @PHENOTYPICFEATURE$ or extensive oral disease require systemic chemotherapy in addition to antiretrovirals.	false
+1f65098226fc529cd6deb7aeb689390e071f3e80	Clinical signs strongly indicative of HIV were oral hairy leukoplakia, shingles scar, @DISEASE$, oral thrush and @PHENOTYPICFEATURE$ (AORs all > 10).	false
+0bf0664f5b2be212bb7bd9f92be5e0ec2c7b1990	Kaposi's sarcoma (KS), a multifocal angioproliferative disorder characterized by spindle cell proliferation, neo-angiogenesis, inflammation, and @PHENOTYPICFEATURE$, is associated with infection by @DISEASE$-associated herpesvirus (KSHV).	false
+af0c7c8226fedcc6a7fa0ad7e5c86c23846387a6	@DISEASE$ (KS), a multifocal angioproliferative disorder characterized by spindle cell proliferation, neo-angiogenesis, inflammation, and @PHENOTYPICFEATURE$, is associated with infection by Kaposi's sarcoma-associated herpesvirus (KSHV).	false
+457338d213097084031841b430f5269389f0aaeb	Doxil, a doxorubicin formulation of polyethylene glycol-coated liposomes, has anti-tumor activity against @DISEASE$ and other solid tumors with mild myelosuppression, minimal @PHENOTYPICFEATURE$ and a low risk of cardiotoxicity.	false
+b971ef44b7282a25dab9bab8d99bf0c8f5da8bba	The disease is characterized by a @PHENOTYPICFEATURE$ with reddish papules or nodules that are similar to pyogenic granulomas or @DISEASE$ in clinical appearance.	false
+69201a63e08aa3d6b4e5af47b869c85e595718e5	A 35-year-old HIV positive patient with skin and gastrointestinal localization of a @DISEASE$ was admitted for severe diffuse @PHENOTYPICFEATURE$.	false
+abd1410db0464507b3422e5fd053b437321273f1	Remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+fd2104356ea14970e746b72bdde63ec766f8147b	Histological diagnosis of the tumors was as follows: teratoma (3 cases), @DISEASE$ (3), glioblastoma (2), astrocytoma (2), ependymoma (2), craniopharyngioma (1), choroid plexus papilloma (1), @PHENOTYPICFEATURE$ (1), lipoma (1), melanotic progonoma (1), and an undetermined type, probably medulloblastoma (1).	false
+c5ac2b13f5e20cb3b4f7ff11769b60e12c00be26	Histological diagnosis of the tumors was as follows: teratoma (3 cases), medulloblastoma (3), glioblastoma (2), astrocytoma (2), ependymoma (2), craniopharyngioma (1), choroid plexus papilloma (1), @PHENOTYPICFEATURE$ (1), lipoma (1), melanotic progonoma (1), and an undetermined type, probably @DISEASE$ (1).	false
+563dd1f4e7478474d8f2f7ef5b5f09a1df6af3ee	By indirect immunofluorescence microscopy of cryostat sections, using the monoclonal antibody SY 38 to synaptophysin, a consistent positive immunoreactivity was observed in all @DISEASE$ (n = 6) and neuroblastomas (n = 3) as well as a ganglioneuroma and a glioneuronal @PHENOTYPICFEATURE$.	false
+6620a0eb5a6e9d2472443c2da94531b225dca50e	@PHENOTYPICFEATURE$ and @DISEASE$ represent the most commonly occurring malignant brain tumors in adults and in children, respectively.	false
+7999ce441a2e340e24e6c9283e76efba23f613b9	Generalized cavernous hemangiomatosis or venous @PHENOTYPICFEATURE$ with @DISEASE$ of the cerebellum: case report and review of the literature.	false
+dbddfbba06b8bd67054ae1a84d0ef7cc0114c5b6	While neurofilament proteins were consistently expressed in the neuroblastomas (3/3), the ganglioneuroma and the glioneuronal @PHENOTYPICFEATURE$, IF distribution in @DISEASE$ was variable.	false
+8dee312629e6ac09e684345ebfc7c3502f9b50e0	Although Dengue infection can be fatal and Zika infection in pregnant woman can lead to newborns with @PHENOTYPICFEATURE$ or an array of neurodegenerative manifestations, the @DISEASE$ infection is a debilitating disease leaving chronic sequelae, which unfortunately has received less attention.	false
+d121eff02e193bf0f5a47b45b95c6f8174536ccf	This article presents the history of Zika virus, its reported cases including @PHENOTYPICFEATURE$ and GBS, and a comparison of its symptoms with those of dengue and @DISEASE$ diseases, as well as preventive measures.	false
+82fb9a35d623d495d824197a1cf595d4b82f6bb4	This study highlights a suggestive clinical presentation of @DISEASE$ diseases combining pain, fever, tachycardia, foot and/or hand @PHENOTYPICFEATURE$.	false
+77c4853bcd378948921e55e7999dc355833c65a3	Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe @DISEASE$ and leads to more severe diseases related to growth and developmental delays and @PHENOTYPICFEATURE$.	false
+c1b44401dbc3f53cf53182b1a94f1df132914d00	Wiedemann-Steiner syndrome (@DISEASE$) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and @PHENOTYPICFEATURE$.	false
+1ca2bb35d10ea3bd55a0864199ff00fce4e4be69	Therefore, @DISEASE$ is an important consideration in patients presenting with @PHENOTYPICFEATURE$ and intellectual disability.	false
+f86111c8f4d9b926ef3349ac4d81653d5c2463b0	@DISEASE$ is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe @PHENOTYPICFEATURE$.	false
+d518521ba9cc4d1102570c6de2ec2b5df622b8ba	Compound heterozygous variants in the LARP7 gene as a cause of @DISEASE$ in a Caucasian female with significant failure to thrive, short stature, and developmental @PHENOTYPICFEATURE$.	false
+747aadfa010874934ed099787f6ec0f14bca8666	Effects of castration, @PHENOTYPICFEATURE$ and @DISEASE$ on social reactivity in the male Mongolian gerbil (Meriones unguiculatus).	false
+6043e4eaf8b1b46b69e88743e46cd44a4c7f849c	Persisting unilateral @PHENOTYPICFEATURE$ and aromatic @DISEASE$ developed in 2 patients each.	false
+64c2e728a983f3f73016a7a277d0f4e6ea294edf	The clinical signs included ataxia, indications of @DISEASE$, @PHENOTYPICFEATURE$, and abnormal behavior.	false
+4d91536e932f45d63b9e55d321bde44bc8b9246a	CHH patients may present with extra-gonadal manifestations, including @DISEASE$, obesity, dental dysplasia, @PHENOTYPICFEATURE$ and mental retardation.	false
+c361da1cc54a16d2653fc821d5537f399d35a77d	Foster Kennedy syndrome is a very rare syndrome which includes ipsilateral @PHENOTYPICFEATURE$ and central scotoma, @DISEASE$, contralateral papilledema, and, occasionally, ipsilateral proptosis.	false
+b7007dfaeb0cedc5a5eba80311b5915e41333ee2	The first patient was a case of Kallmann's syndrome presented with @PHENOTYPICFEATURE$, infantile genitalia and @DISEASE$.	false
+85e16219d020c0b95e9e0936727ba2942c6b7b7f	Tumors of the olfactory groove may cause unilateral @PHENOTYPICFEATURE$ with contralateral papilledema and @DISEASE$ (Foster Kennedy syndrome).	false
+004440f2afc906807cbc3a3e08b4f89b38aaa198	@PHENOTYPICFEATURE$, absent thumbs, flat facies, @DISEASE$ and combined immune deficiency (CID).	false
+71519e5316a241c876938f1553190127d16e71cd	@DISEASE$ associated with hearing loss and benign positional @PHENOTYPICFEATURE$ after head trauma.	false
+7c485b68cffc1840f4a8f295607cc6a61be10d7b	Only one patient presented @PHENOTYPICFEATURE$ without growth hormone deficiency and @DISEASE$.	false
+565d93509e74bfe86be667d388a301237e049923	Although daily hassles and coping are associated with behavior and emotional problems in non-clinical populations, few studies have investigated these relationships in individuals with high-functioning @PHENOTYPICFEATURE$/Asperger's Disorder (@DISEASE$).	false
+3d0d4d52287569e8b5c498d01ac83af10988b6a6	This randomized controlled trial evaluated the efficacy of a computer software (i.e., Mind Reading) and in vivo rehearsal treatment on the emotion decoding and encoding skills, @PHENOTYPICFEATURE$ symptoms, and social skills of 43 children, ages 7-12?years with high-functioning autism spectrum disorder (@DISEASE$).	false
+dc9e14d7df600286ab3edf41dda4b9768741d836	Schwartz-Jampel syndrome (@DISEASE$) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and @PHENOTYPICFEATURE$.	false
+fea4295e253afed00f262fabb63eccb1c00992db	@DISEASE$ (SJS) is a rare, inherited disorder defined by myotonia, skeletal malformations, muscular stiffness, and @PHENOTYPICFEATURE$.	false
+c0e7cfa06bd7e2ba7bf54c2bbd1372017ee1194e	@DISEASE$ is a rare disorder inherited as an autosomal recessive trait and characterized by @PHENOTYPICFEATURE$, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies.	false
+d52283facaae5bb85d594784b10f88b590ec1d6c	The @DISEASE$, also known as myotonia chondrodystrophica, is a rare autosomal recessive disorder characterized by bone dysplasia, @PHENOTYPICFEATURE$ and generalized myotonia.	false
+4c6163582a47f2c3624fc792f91fe23e47222e9e	Schwartz-Jampel syndrome (@DISEASE$) is a disorder characterized by myotonia, joint contractures, skeletal abnormalities, facial dysmorphism and @PHENOTYPICFEATURE$.	false
+f2f199f90841d44ad54d9078d84a94d6ff3c8be2	@DISEASE$ (SJS) is a disorder characterized by myotonia, joint contractures, skeletal abnormalities, facial dysmorphism and @PHENOTYPICFEATURE$.	false
+4a188ecc3eeb8dfcdcc9f9106896b6365b8f05cd	We describe a patient with @DISEASE$ and snoring in whom polysomnography demonstrated @PHENOTYPICFEATURE$ and hypoxia.	false
+46dcac8690d9223c64a8dfcaa39f2f31fe0f0e72	@DISEASE$ is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+27c1a3f71d38c92c70beab3fe981fc8ce8b4dc59	@DISEASE$ (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and @PHENOTYPICFEATURE$.	false
+54003ae6ac3c23e4c89e60f731839ad3a21eb012	Schwartz-Jampel syndrome (@DISEASE$) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and @PHENOTYPICFEATURE$.	false
+b480228468545a73cd171f50cd59a660a143e1f6	@DISEASE$ is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and @PHENOTYPICFEATURE$.	false
+8d57d3337a1a6815c926c5ff2beba5d65a53b38b	He had previously suffered from orbital myositis, @DISEASE$ (DI), @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+4437d56ebb0988c93336fbb78950eb4d973cac14	Neuroglycopenia @DISEASE$ (T1DM) results in reduced cognition, unconsciousness, @PHENOTYPICFEATURE$, and possible death.	false
+4bd1709d8f97c4787153ed4bdd3edf9cc30ecea2	To evaluate the feasibility and treatment outcomes of stereotactic radiosurgery (@DISEASE$) using a stereotactic body frame (Precision Therapy), we prospectively reviewed 34 tumors of the 28 patients with primary or metastatic intrathoracic @PHENOTYPICFEATURE$.	false
+2c9d8ef562036a168df7b1d9b06404fa2ce1f421	In 2 patients the @DISEASE$ was associated with @PHENOTYPICFEATURE$ Dysmorphia (CD).	false
+64e8fcaf3ec818f9c8e3b85e562479c1c9f11fd4	RFA and @DISEASE$ have been demonstrated to be safe with reasonable efficacy in the treatment of small @PHENOTYPICFEATURE$.	false
+4885b57bb65573ac4feeb631883d3ba1122beb7a	A case of @DISEASE$ and @PHENOTYPICFEATURE$ due to left ventricular systolic dysfunction.	false
+bdc108677942266bf58f798f244def3983d11202	We report on a 19 years old patient, at 32 weeks of gestation, with severe @DISEASE$, in uncompensated heart failure and @PHENOTYPICFEATURE$.	false
+a03a7a2828c66b2590babd75a96022b33ff466fc	Other known causes of @PHENOTYPICFEATURE$ during pregnancy include tocolytic drugs, preeclampsia, eclampsia, and @DISEASE$.	false
+327f11c3e67d072e9354735b58188fe40ae30a88	They included ischemic cardiomyopathy, valvular cardiomyopathy, hypertensive cardiomyopathy, inflammatory cardiomyopathy, metabolic cardiomyopathy, general system disease, @PHENOTYPICFEATURE$, sensitivity and toxic reactions, and @DISEASE$.	false
+d4b3666d025ebf2b2e684d85c19e251e7b431129	[Severe @PHENOTYPICFEATURE$ in a preeclamptic patient with @DISEASE$].	false
+21384dbd03b1f7fbf9870cb0ee82a0c8529b5db6	Concurrent early-onset @DISEASE$ in a preeclampsia patient with acute @PHENOTYPICFEATURE$.	false
+d2dcc70ec4eaabfed5f07dddd19e4e2ef15386d7	From clinical course and echocardiographic findings, we consider that this @PHENOTYPICFEATURE$ was caused by @DISEASE$.	false
+ecc7591287beeb2eeebf06271e225169d0d45e97	They included ischemic cardiomyopathy, valvular cardiomyopathy, hypertensive cardiomyopathy, inflammatory cardiomyopathy, metabolic cardiomyopathy, general system disease, @PHENOTYPICFEATURE$, sensitivity and toxic reactions and @DISEASE$.	false
+797b1775e0c9f53a05252119e958bb1d3768aa60	Severe preeclampsia, @PHENOTYPICFEATURE$, and @DISEASE$ in a primigravida patient.	false
+ce68c6cdb33ae39433bad6f4fec125097e049dcd	@DISEASE$ is defined as left @PHENOTYPICFEATURE$ and failure, first developing during the third trimester of pregnancy or in the first 6 months postpartum.	false
+69b49aed1c0d884ce77ebaf6189604d8d0b7308c	Extremely variable penetrance has been reported to be associated with @DISEASE$, the most common features of which are @PHENOTYPICFEATURE$, waddling gait and muscle weakness.	false
+13ae38d39a38f828e7e3e771dc954fe785ea84d9	Childhood @PHENOTYPICFEATURE$ survivors (@DISEASE$) are known to have developed long-term impairment of lung function.	false
+e834cba319f7f9e1ed6ad4e510adcbe951ac9b26	The Coffin-Lowry syndrome (@DISEASE$) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and @PHENOTYPICFEATURE$, and progressive skeletal deformations.	false
+fdc4653061f6d746406ee6a16c5b29511ab57c1b	The @DISEASE$ (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and @PHENOTYPICFEATURE$, and progressive skeletal deformations.	false
+a4b5c73e9ec899dba36619ab27782d0556993743	@PHENOTYPICFEATURE$ and septicemia are risk factors for @DISEASE$ in children with malignant hematologic diseases.	false
+abb8a4736e0f882f701d322e48badacade55b338	Postoperative @PHENOTYPICFEATURE$ scores were significantly higher in the SILS group than in the @DISEASE$ group (3.07 ? 1.14 vs 2.41 ??0.63, respectively, P < 0.001).	false
+60de783a5395557d0c5ff7d0c69a764cc1f567b1	Coffin-Lowry syndrome (@DISEASE$) is an X-linked semi-dominant disorder characterized by diverse phenotypes including intellectual disability, facial and @PHENOTYPICFEATURE$.	false
+de69d123210ee7147e07e21b497e1dc2242d871d	@DISEASE$ (CLS) is an X-linked semi-dominant disorder characterized by diverse phenotypes including intellectual disability, facial and @PHENOTYPICFEATURE$.	false
+1a0019ed3e8c142d2e42e495ff3290f737fc6355	We report a female infant with the @DISEASE$, one of a group of conditions characterised by short ribs, @PHENOTYPICFEATURE$, dwarfism, and early neonatal death.	false
+3ddd7519d73b75c83b60d5abc3c419541b07eec4	Syndrome of @PHENOTYPICFEATURE$, micromelia, genital hypoplasia and respiratory distress (@DISEASE$).	false
+13bb184f0cfb52814de7128f404ccf31dee2be7e	Some patients, described as infants affected with the @DISEASE$ (MS) or "atypical" short rib-@PHENOTYPICFEATURE$ conditions, may indeed have BLS.	false
+55573ae7e20fbe83907d9b52c682ad4dbcd852df	@DISEASE$ is an autosomal recessive disorder characterized by short ribs, @PHENOTYPICFEATURE$, short limbs, and a cleft lip.	false
+0f2aa14edca947c3a22174cb100399b226b15bbe	Short rib-@PHENOTYPICFEATURE$ syndrome type II (@DISEASE$): a case report.	false
+1023bd349742ac7069e9e31d31d22d27e87bf5cd	The @DISEASE$ or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, @PHENOTYPICFEATURE$, relatively proportionate head size at birth with later progression to microcephaly.	false
+97f0cc6b55bc5cab031b9f7f89ad40f81996226d	The features of OFD type II overlap with those of OFD type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (@DISEASE$).	false
+4b5a617e0bdcc58a6becd68221537e772b02b3a7	Those rare malformations are typically observed in patients with the @DISEASE$, a lethal, short rib-@PHENOTYPICFEATURE$ skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome.	false
+c00397b6d5512c8fa3f1cdc198b132e6a35f4a12	Jeune syndrome (JS) and @DISEASE$ (SRP type III) are autosomal recessive disorders characterized by short ribs and @PHENOTYPICFEATURE$.	false
+6e5eb96663fd64446ff62f6380efbf3bb3363115	Case report: Short rib @PHENOTYPICFEATURE$ syndrome - type 2 (@DISEASE$).	false
+d47c4e5cc66ab1bae97ab7a9be5505dc45903619	A 51 year-old man with @DISEASE$ presenting with multiple episodes of @PHENOTYPICFEATURE$ (VF) treated with defibrillation and subsequently cutaneous burns.	false
+b335a87ba3bd83ef6a19ca50706ee2cbc908433a	Aneurysm of the membranous ventricular septum (@DISEASE$) is a congenital @PHENOTYPICFEATURE$ often associated with ventricular septal defect.	false
+43ed126bd25ea910d7aab84ebb05b84b84a282e9	Anorectal @PHENOTYPICFEATURE$ (@DISEASE$) is a rare type of melanoma that accounts for 0.4% to 1.6% of total malignant melanomas.	false
+5ce354d6eefb0c31f610fbbf3f0c976c67f28fad	The new case definition is usually accompanied by AAO/@DISEASE$ @PHENOTYPICFEATURE$.	false
+363fb5f878289afb7435677d634846f49c8059cc	Nifedipine does not improve survival in @DISEASE$ patients without @PHENOTYPICFEATURE$.	false
+c269a6ae178c219d863e5636041f3de2b5735fca	Aneurysm of the Membranous Septum (@DISEASE$) is a rare cardiac disease, mostly associated with other @PHENOTYPICFEATURE$, very rare in the absence of other congenital heart defects.	false
+04f0a82142a6a472459e0ff6097c47b9be40f60e	Aneurysm of the Membranous Septum (@DISEASE$) is a rare cardiac disease, mostly associated with other cardiac anomalies, very rare in the absence of other @PHENOTYPICFEATURE$.	false
+87c19fe4a043c4935e829dc98f9bcae6094bd2ba	A familial investigation was made in three families with @PHENOTYPICFEATURE$ patients caused by aminoglycoside (@DISEASE$).	false
+4d41b1e082450f83c075d22eecc122703b7f1e9b	Then, the development of @DISEASE$ and malignant arrhythmia, including ventricular tachycardia and @PHENOTYPICFEATURE$ during the process of model creation, were recorded.	false
+259abcadbb95110c680ff1917b09de317c96610e	Agricultural subsidies and the @DISEASE$ @PHENOTYPICFEATURE$ epidemic.	false
+f82f9efab24480219bdcea829a7953c007c82f76	Junk food advertising contributes to young @DISEASE$' @PHENOTYPICFEATURE$.	false
+83fbb09b6cc3f67a411f24d661a1815331b80d0f	Additional phenotypic findings were variable including @PHENOTYPICFEATURE$, clinodactyly, delayed menarche, and @DISEASE$. Genetic analyses were initiated due to elevated IGF-I levels of the girl.	false
+54fe7cd977ccedf34e6287743a6c776223022120	To this end, persistent chronic noise exposure increases cardiometabolic diseases, including arterial hypertension, coronary artery disease, @PHENOTYPICFEATURE$, heart failure, @DISEASE$, and stroke.	false
+afeab6a4ec6c09eaea0203e6f005b46b2d8d1c73	A 72-year-old man with a history of long standing @DISEASE$ and dry eye presented with 80% corneal thinning and @PHENOTYPICFEATURE$ on the right eye and no signs of infectious disease, initially managed with topical unpreserved lubrication and 20% autologous serum drops.	false
+633dcb56b89f6438909263f35e33a181217ad258	[Hypoglycemia and @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+d2f1e54f003ff23d1113274d06cb86dbcb93bff5	Variables analyzed included age, glucose levels, @DISEASE$, hypertension, hyperlipidemia, height, weight, sex, smoking, preexisting neurologic conditions, surgical history, lower extremity @PHENOTYPICFEATURE$, and neurologic examination findings.	false
+0971dd4d96cd2c747a2cc83cee55f7108717384f	Complement @DISEASE$ mice are protected from @PHENOTYPICFEATURE$ in experimental cerebral malaria.	false
+2357ff5eb122838dc71e27af541fc17f4f080ecc	[Hereditary @DISEASE$ and recurrent Neisseria meningitidis @PHENOTYPICFEATURE$].	false
+2412f694dc5a2d31fc6c067633493c7040a68bc3	Presumed rapid eye movement @PHENOTYPICFEATURE$ in Machado-Joseph disease (@DISEASE$).	false
+fb24c6e74f60a825e730a5b98d12a694425f17a4	Presumed rapid eye movement @PHENOTYPICFEATURE$ in @DISEASE$ (spinocerebellar ataxia type 3).	false
+2dae5020a634b2b35eb5dcfe1f28a64b4a098344	Akathisia: An unusual @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5f918ade49a68eaf6d52b676e4bdb5ef53143538	Machado-Joseph disease, also called @DISEASE$ (MJD/SCA3), is a hereditary and neurodegenerative @PHENOTYPICFEATURE$ caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3).	false
+7dae3d8b40b4c594aa04abc6ab264d8c41d2491d	@DISEASE$, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative @PHENOTYPICFEATURE$ caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3).	false
+18074f5b4fd7dd8e925b1fdef150d5b4afd95b94	Machado-Joseph disease, also called spinocerebellar ataxia type 3 (@DISEASE$/SCA3), is a hereditary and neurodegenerative @PHENOTYPICFEATURE$ caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3).	false
+bc6be48d16068902310fc7e329faed84e5a6298f	Fifteen patients with different forms of @PHENOTYPICFEATURE$ (Parkinson's disease, Huntington's disease, Tourette's syndrome, @DISEASE$), were evaluated in the Movement Disorders Unit of the Federal University of Paran?.	false
+9cc0153fbf4e9e6cd69b5f439238c5aa7d40a299	@DISEASE$ also called spinocerebellar ataxia type 3 (MJD/SCA3) is a hereditary and neurodegenerative @PHENOTYPICFEATURE$ caused by ataxin-3 with a polyglutamine expansion (mutant ataxin-3).	false
+708f03654a60c7b1e8c07c7c0cfa42daafd427fb	Machado-Joseph disease also called @DISEASE$ (MJD/SCA3) is a hereditary and neurodegenerative @PHENOTYPICFEATURE$ caused by ataxin-3 with a polyglutamine expansion (mutant ataxin-3).	false
+7ddd917d6f5d98b35b0e6208ed3b41f70ca2e205	Machado-Joseph disease also called spinocerebellar ataxia type 3 (@DISEASE$/SCA3) is a hereditary and neurodegenerative @PHENOTYPICFEATURE$ caused by ataxin-3 with a polyglutamine expansion (mutant ataxin-3).	false
+014da02e427525bbc38cab9f43b133da8b283092	We describe three patients with the Machado-Joseph disease (@DISEASE$) genetic abnormality who had non-@PHENOTYPICFEATURE$ neurological symptoms or signs that preceded the gait ataxia by several years.	false
+b28cb29fbd0da38ac69a353180c0a8e4729d5ab7	We describe three patients with the @DISEASE$ (MJD) genetic abnormality who had non-@PHENOTYPICFEATURE$ neurological symptoms or signs that preceded the gait ataxia by several years.	false
+4a74c525e3e9f934ff99e91d02382b36b88a9a5a	Video-polysomnographic monitoring of a female patient with @DISEASE$ (SCA-3) in whom rapid eye movement (REM) sleep @PHENOTYPICFEATURE$ was clinically suspected demonstrated recurrent episodes of unusual nocturnal motor restlessness occurring during non-REM sleep and severely disturbing both the patient and her bed partner's sleep.	false
+ad6e305921d8b121c3eca6b879e96933201a0f69	Functional perturbation of the cerebellum (CB)-motor cortex (M1) interactions may underlie pathophysiology of @PHENOTYPICFEATURE$, such as Parkinson's disease (PD) and @DISEASE$ (SCA3).	false
+3e8ce1d60f6ec43dc97f2a9e4574a2dbe4e9161c	Machado-Joseph disease or @DISEASE$ (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and @PHENOTYPICFEATURE$.	false
+233c28d513e220d1fd868c18c137535239c816a0	Machado-Joseph disease or spinocerebellar ataxia 3 (@DISEASE$/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and @PHENOTYPICFEATURE$.	false
+7b53250345e48b5d7a583b6f11158c66ffc98c61	@DISEASE$ or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and @PHENOTYPICFEATURE$.	false
+2c9c864b38e0ba9437825f547fd885ce8479761b	Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (@DISEASE$) is characterized by cerebellar, central and peripheral symptoms, including @PHENOTYPICFEATURE$.	false
+5809e161369ba0a6ae161a2c549b185d72c43e8f	Spinocerebellar Ataxia type 3 (SCA3) or @DISEASE$ (MJD) is characterized by cerebellar, central and peripheral symptoms, including @PHENOTYPICFEATURE$.	false
+85d3d26570695551e4ab28b8f02654495c6eae2f	@DISEASE$ (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including @PHENOTYPICFEATURE$.	false
+a481ff0ba10284095ee61ae789ca9f604c0c6be1	CHRNA7 is genetically linked to multiple disorders with @PHENOTYPICFEATURE$, including schizophrenia, bipolar disorder, ADHD, epilepsy, Alzheimer's disease, and @DISEASE$.	false
+48d8f65fa08ae783263a51b079971f4e539cd37b	@DISEASE$ (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, @PHENOTYPICFEATURE$, and frequent seizures.	false
+252e57cf68ca1ccdc946936ca1272632f1168d6f	@DISEASE$ (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, @PHENOTYPICFEATURE$, motor deterioration, and autonomic abnormalities.	false
+74fdd7c57e5f5821c26e3a41ab6c0c6b266c4125	@DISEASE$ (RTT) is a genetic disorder characterized by a range of features including @PHENOTYPICFEATURE$, gait abnormalities and a reduction in purposeful hand skills.	false
+8cba8543eee5b60ff46395707cd79fe72309b8ee	@DISEASE$ (RTT) is a neurological disorder characterized by severe @PHENOTYPICFEATURE$, motor dyspraxia, and seizures.	false
+7e4054b2a47934bd6d8b51197422f93f5dc761a3	Individuals with @DISEASE$ (RS) present severe motor, language and @PHENOTYPICFEATURE$, as well as spontaneous hand movement loss.	false
+8b8c900d8ff231eac9447fcf83170d6f647cac65	@DISEASE$ is a severe neurodevelopmental disorder leading to @PHENOTYPICFEATURE$ and global developmental delays, including difficulty or inability to walk.	false
+eab329f20798c711207b7a2b60218fcfc0bc3993	@DISEASE$ (RTT) is the second leading cause of @PHENOTYPICFEATURE$ in girls and is currently untreatable.	false
+b83d31417248691977abe4dac0dc2903c5a112ba	A patient with @DISEASE$ (@PHENOTYPICFEATURE$ associated with hyperammonemia) was studied.	false
+77d859fb1823c9a37e0f0e5b08fba9eacaf1b51e	@DISEASE$ (RS) causes severe @PHENOTYPICFEATURE$, loss of speech, epilepsy, and breathing disturbances with intermittent hypoxia.	false
+d4fe2987403a4f80a1d7ba7ce51d2166cf6b022f	Although @PHENOTYPICFEATURE$ (MDs) are known complications, the exact frequency and severity remains uncertain in patients with @DISEASE$, especially in children.	false
+bd90d573ad0e9e7ee3f0a7d4385bb6d9ef1b078c	The patient had @DISEASE$, slightly arched eyebrows, long eyelashes, a broad nasal tip; malformed and prominent ears, cleft lip and palate, @PHENOTYPICFEATURE$, fingertip pads, severe growth deficiency, and mild mental retardation.	false
+1ddfdadfe1b429a1d929c2dc63661e84ed12e69e	Short stature, @PHENOTYPICFEATURE$, and @DISEASE$ (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.	false
+3178e1ae8ada92ae2034ca1bfb266ec806be3282	Peters'-Plus syndrome is a disorder in which patients with @DISEASE$ are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and @PHENOTYPICFEATURE$.	false
+d8eae148ddbf778c4c11c2838210afe9bdd2bb66	Two sibs with a phenotype characterised by short stature, @PHENOTYPICFEATURE$, and ocular anomalies (@DISEASE$) are reported (Peters'-plus syndrome).	false
+b65865eeceeda121eccb79b8c2d3ddb6e65e5c61	Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly @DISEASE$), short stature, @PHENOTYPICFEATURE$, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+dba4a9570a8b75c9b44c5f96332aca77c6693d8c	Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with @DISEASE$, unusual facial appearance, disproportionate short stature, retarded skeletal maturation, and a variable degree of @PHENOTYPICFEATURE$.	false
+235675d1f1de718f4d781d245441f02d1afdbba1	The presence of a @DISEASE$, @PHENOTYPICFEATURE$, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+f94ab2c477975c0ca4819f1a129780fb42dcc432	The authors present 11 patients with @DISEASE$, short stature, brachymorphy, @PHENOTYPICFEATURE$, abnormal ears and cheilo(gnatho)palatoschisis.	false
+245f7b3f70ab877c92d9d0e20836e68e1031eac9	Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by @DISEASE$ of the eye, short stature, @PHENOTYPICFEATURE$, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+d1a9cdc6f929558d8947276a84f5568008a4cdb0	Manifestations of Peters'-Plus syndrome include @DISEASE$, short stature, small hands, @PHENOTYPICFEATURE$, abnormal ears and cleft lip and palate.	false
+f399a0f65dfa0557610cc2a06fdd7d3c45906df0	Total skin thickness score (@DISEASE$), Raynaud's phenomenon and anti-scleroderma 70 (anti-SCL70) showed significant positive correlations with all @PHENOTYPICFEATURE$ parameters, while showing a significant negative correlation with the impaired ventricular diastolic function and various HRV parameters.	false
+c36d96ff4c838331099406ff76d5e8e234c1d0bc	[@DISEASE$, @PHENOTYPICFEATURE$, and speech disorders].	false
+f0f91e4d1df547965027850f51d8a734d414beb5	Other neurological abnormalities included hypotonia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+3944773669d1b69c4879763449b4a93520194aea	(@DISEASE$ and @PHENOTYPICFEATURE$).	false
+d359e4385707bd3cb4ed474990153bf72b350cdd	[@DISEASE$, vitiligo and @PHENOTYPICFEATURE$-mutism.	false
+503147d3adef317132ed780b6f85831a0e4ded6d	[Pseudo-@DISEASE$ and @PHENOTYPICFEATURE$].	false
+d544595b077a8a842c81b6ad18a0f4ff7da8b72f	[The association of late @PHENOTYPICFEATURE$ and @DISEASE$].	false
+6fee75f02d9b34420cb9766cf22385ea029df342	[Nanism with @DISEASE$ & @PHENOTYPICFEATURE$; Cockayne syndrome].	false
+c2e651072c07b1056ada9ba2d55ecdaae69df4ea	Inverse @DISEASE$, @PHENOTYPICFEATURE$, and hypogenitalism.	false
+71a43c101fae7f77184a11833ea833f478614f0f	The common findings are mild dysmorphic features (@DISEASE$, epicanthal folds, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, mental retardation with @PHENOTYPICFEATURE$ and lack of major malformation.	false
+9e61084218bae8416220081e27f7422e55c1ec52	We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including @DISEASE$, flat facial profile, and prognathism, short stature, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild @PHENOTYPICFEATURE$.	false
+03385086d923e8401a4ff6ad5b877aeb314896b4	Distinctive facial features consisting of hypertelorism, @DISEASE$, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and @PHENOTYPICFEATURE$ are seen in autosomal-recessive Carnevale, Malpuech, Michels, and oculo-skeletal-abdominal (OSA) syndromes.	false
+ee7623fe62af2d9b1eeeaa75d6723dfa7941ef6e	The phenotype comprises a distinctive facial appearance that includes blepharophimosis, maxillary hypoplasia, @DISEASE$, microtia and atresia of the external auditory meatus, intellectual disability, digital contractures and @PHENOTYPICFEATURE$ together with subependymal and subcortical neuronal heterotopia.	false
+0c19286e1b1cad274a4ed4dae0140220a87311d8	The presence of a Peters' anomaly, mental retardation, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, @DISEASE$, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+50a537eba4d37756a225f8e7a153da41a2374b83	A preliminary survey of pediatric neurosurgeons working at different centers around the world suggested differences in clinical practice resulting in variation in the risk of pediatric cerebellar mutism (CM) and cerebellar @PHENOTYPICFEATURE$ syndrome (@DISEASE$) after posterior fossa (PF) tumor resection.	false
+51c4ceaf98876577bf71d8e829fd8a91fce25c28	Insulin resistance is a key factor for the development of the @DISEASE$ and is strongly related to obesity, @PHENOTYPICFEATURE$, hypertension, type 2 diabetes mellitus (T2DM), CKD, and NAFLD.	false
+3c502319f0ac573288d768c585902406d4c601fb	A case of @DISEASE$ associated with peripheral ulcerative @PHENOTYPICFEATURE$.	false
+f470fdb9a33fcfb12b807ab3ce5d13a4bff6343b	The degree of @PHENOTYPICFEATURE$ worsen in RMN, was unchanged in Reeler and improved in Weaver and @DISEASE$ mice.	false
+4be0c2582da547b2f185f9468a77a0a707c7f969	The differential diagnosis includes cystic fibrosis (CF), immunodeficiency disorders, complement deficiency, allergic bronchopulmonary aspergillosis, alpha-1 antitrypsin disease, repeated aspiration pneumonia, foreign body, bronchial carcinoid, unresolved right middle lobe @PHENOTYPICFEATURE$, and primary ciliary dyskinesia (@DISEASE$).	false
+6c949ea0fd8d60293ffb4bed370ff1e5b1ebbca1	From the literature review and our findings we conclude that ciliary investigation is indicated (a) in patients who remain suspected of having @DISEASE$ despite thorough clinical examination and exclusion of other disorders such as cystic fibrosis, allergy, immunologic disorders and alpha1-antitrypsin deficiency; (b) in patients with situs inversus suffering from chronic and/or recurrent airway infections; and (c) in patients with neonatal respiratory distress syndrome of "unknown" cause (i.e. after exclusion of hyaline membrane disease, aspiration syndromes, neonatal @PHENOTYPICFEATURE$, and pneumothorax as well as cardiovascular and metabolic diseases).	false
+1470a502cda8c5d644078152ed5dd65d3a7f1826	Early childhood @PHENOTYPICFEATURE$ and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(@DISEASE$), and congenital lung pathology should be considered in the etiology.	false
+f8b5171a0f77c7cf7aee7e7a11ca6e2d5021ddc5	We report a patient with relapsing-remitting multiple sclerosis who developed a progressive cerebellar syndrome with dysarthria, @PHENOTYPICFEATURE$ and vertigo mimicking development of secondary progressive multiple sclerosis but caused by anti-Yo antibody positive @DISEASE$ associated with ovarian cancer, presenting an unusual diagnostic challenge.	false
+d9c119ae9c6ed851d60815a300444b7927fd5cc4	The present findings also suggest that the normal progress of @DISEASE$ in the hand and foot plates of rodent fetuses may prevent the formation of some limb malformations such as webbing fusion of digits, @PHENOTYPICFEATURE$, or cleft hand/foot.	false
+0bb516ad1ba4a607d6c34a368a38c11f2142cdca	In view of the fact that it has been well-documented that neurons in AD can re-enter into the cell division cycle, the findings presented here of increased @DISEASE$ advance the hypothesis that deregulation of the cell cycle may contribute to neuronal degeneration and subsequent @PHENOTYPICFEATURE$ in AD.	false
+3fed3ed17883dd8cbf565d429f0ef4c2b3050adf	Here we describe the youngest known case of PCA-1 positive @DISEASE$ in a male, whose @PHENOTYPICFEATURE$ was undetectable even on FDG-PET.	false
+b6d5180d656d920ea84057d13c7ede857ccca16c	The purpose of this study was to evaluate the feasibility of FDG imaging with positron coincidence detection gamma camera (@DISEASE$) in detecting @PHENOTYPICFEATURE$ in comparison with FDG imaging with the dedicated positron emission tomography (PET).	false
+07fdbcf9a3995792d0edae90854a6b2df2d7a044	The typical syndrome of ring-chromosome 13 is related to the deletion of 13q34; the deletion of 13q32-13q32.2 is related to hand and foot abnormality, heart murmur, renal defect, @PHENOTYPICFEATURE$ and external genital abnormality; the deletion of 13q32.3-13q33 is related to micrognathia; 13q22-13q32 is related to atresia, and 13q13-q22 is related to @DISEASE$.	false
+72da327af6a75281481e0cf479e641e70d380747	Since the control of production and clearance of plasma lipoproteins in utero is largely unknown, we sought to evaluate the effects of glucocorticosteroid (dexamethasone) treatment of developing fetuses and of chronic intrauterine @PHENOTYPICFEATURE$, due to fetal @DISEASE$, on newborn serum levels of apolipoprotein A-1 (Apo A-1), the major apoprotein of high density lipoproteins (HDL).	false
+51815ee6baa55eee5584363750951f605a4c0b45	Search terms included phenytoin, carbamazepine, phenobarbital, primidone, valproic acid, oral contraceptives, clomiphene, drug-induced @PHENOTYPICFEATURE$ bifida, @DISEASE$, neural tube defect, folate, folic acid, and folic acid deficiency.	false
+aa93945558cacdfceff4a0c778b1a1f2b49b2cb1	Associated malformations include a ventricular septal defect, renal agenesis, anal atresia, axial @PHENOTYPICFEATURE$, and craniorachischisis (@DISEASE$ and spina bifida).	false
+5aec9bf921598d0d178892b2821465b767c4843d	Brain hernia, @DISEASE$, cleft palate and @PHENOTYPICFEATURE$ were found in group IV and its incidence was significantly higher than the other 3 groups.	false
+6ee4295cdf1e8191fbd7fd8bc3f2c6d4850a98ee	We compared the findings in our case with those of brachydactyly B, @DISEASE$ and Haas-type @PHENOTYPICFEATURE$.	false
+b7f4456362b63ee82b9c3d28e63883dfdb7fbaf5	We compared the findings in our case with those of @PHENOTYPICFEATURE$ B, @DISEASE$ and Haas-type syndactyly.	false
+fd6fe172ed4b081877b553cd592233d3d307b6d7	Ophthalmoparesis and @PHENOTYPICFEATURE$ are extremely rare in @DISEASE$.	false
+2e873e7849d0a55519c22d1eee99cd5c6041dd72	[@DISEASE$ revealed by acute respiratory failure after an outpatient @PHENOTYPICFEATURE$ surgery].	false
+cbfa3cd5b548f98f809ee9bb8e9bc56c31caa79f	@DISEASE$ (CAH) owing to 21-hydroxylase deficiency is caused by the @PHENOTYPICFEATURE$ of mutations in the gene CYP21A2.	false
+bd4c440956101a5b9acb18fad76b341cdb388164	Congenital adrenal hyperplasia (@DISEASE$) owing to 21-hydroxylase deficiency is caused by the @PHENOTYPICFEATURE$ of mutations in the gene CYP21A2.	false
+766c079cca7379cb16d9d521afdb445a2c564332	Testicular adrenal rest tumors, oligospermia, and @PHENOTYPICFEATURE$ are frequently associated with subfertility in men with all forms of @DISEASE$.	false
+6902dcfc8dc9ad366fc9d69cd62b65fa73bfd8b0	Twelve (46.1%) of the 26 @DISEASE$ cases with BN developed cirrhosis including 4 cases of early @PHENOTYPICFEATURE$.	false
+0990134a9b7de16afefa9f74ad13c766122bfefa	Mutations in the 11?-hydroxylase (CYP11B1) gene are the second leading cause of @DISEASE$ (CAH), an @PHENOTYPICFEATURE$ disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis.	false
+4237cb8e81aa5f7c12d89c967131a42fedad94ae	Mutations in the 11?-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (@DISEASE$), an @PHENOTYPICFEATURE$ disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis.	false
+ee1403656fb23753115ab58bf0095b33edd8fb0f	We recommend that sequencing of entire genes for rare mutations should be carried out when genotype-phenotype nonconcordance is observed in patients with @PHENOTYPICFEATURE$ monogenic disorders, including @DISEASE$.	false
+3800cddbe31844d42daa773206352e1abcc38920	Studies of patients with salt-wasting @DISEASE$ found that up to 10% had clinical features of EDS, associated @PHENOTYPICFEATURE$, haploinsufficiency of TNX and heterozygosity for TNXB mutations, now called "CAH-X."	false
+947a269a16f7535c80e641105763b07ebe24b46c	@DISEASE$ (CAH) is an @PHENOTYPICFEATURE$ disorder associated with inborn errors of steroid metabolism.	false
+8c823e7bb2dcc03543f4619ca5c710ef2958d597	Congenital adrenal hyperplasia (@DISEASE$) is an @PHENOTYPICFEATURE$ disorder associated with inborn errors of steroid metabolism.	false
+e1eff574473502283b7a01ebf35e23ad685110c7	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$ (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis.	false
+be9b62570eaa5fec1201963e8531fbaeef126e1f	@DISEASE$ (CLAH) is a rare @PHENOTYPICFEATURE$ disorder caused by defective synthesis of all steroids.	false
+4fca1e3f4b71bd36ae7bfe84ce97647d4e82d007	Congenital @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+5429a59a68d52e3fc5aa153298b09406440017ab	Partial monosomy of 10q also shares many of the prominent features of @DISEASE$, including @PHENOTYPICFEATURE$, cardiac defects and facial features.	false
+d97c06982d8b1bf04e85c359b9989dbf238fd512	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (@DISEASE$, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+c516e74a3b8ee19b8f49540449d8db4b5477749c	Thus, @DISEASE$ is a distinct VHL syndrome manifested by thrombosis, @PHENOTYPICFEATURE$, and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes.	false
+b919f520c4c79722b5c700ed48b8ff9b0dd3780f	The authors report the case of a 2 1/2-year-old male with @PHENOTYPICFEATURE$, with an 18q- chromosomal abnormality in the absence of phenotypical features of the @DISEASE$.	false
+b5b644c1f21c7e5a01e942beb356c8ae8c1ebea1	The @DISEASE$ is a deletion syndrome that is characterized by mental retardation, hearing loss, midfacial hypoplasia, growth deficiency, and @PHENOTYPICFEATURE$.	false
+5e78729ffabe1f95c41d8285f8d2652758f4f0b5	To evaluate the clinicopathologic features of @DISEASE$ (GIST) with synchronous @PHENOTYPICFEATURE$ and the treatment principle.	false
+907f4a792ebc647e31628df701a0966ec6c591d3	[Clinicopathologic features of @DISEASE$ with synchronous @PHENOTYPICFEATURE$].	false
+db5e97db8f836e83e876ed5d1439225b4dbe2b5a	The @DISEASE$ (LGS), which is characterized by craniofacial dysmorphism and @PHENOTYPICFEATURE$, is caused by a genetic defect in 8q24.1.	false
+c02c6795cfafb46cf13e2148a66da3286d18855c	@DISEASE$ (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+3e64753cdee422ca9791883d2c6a0d882ba33a9c	The @DISEASE$ (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and @PHENOTYPICFEATURE$.	false
+e5242e0837e3eb852f309d01121c768aaee70284	The exclusive involvement of @PHENOTYPICFEATURE$ distinguishes EXT from the clinically more complex @DISEASE$ (LGS), which is associated with deletions at chromosome 8q24.	false
+4b727ac4844dfcd9d1cf0ee772ce4479298c3dcf	Individuals with @DISEASE$ (also known as trichorhinophalangeal syndrome Type II) exhibit several @PHENOTYPICFEATURE$, including multiple exostoses and cone-shaped epiphyses of the hands and feet.	false
+b8051ef0d6b94a32491fe7071be6f8e0b0da5046	Individuals with Langer-Giedion syndrome (also known as @DISEASE$) exhibit several @PHENOTYPICFEATURE$, including multiple exostoses and cone-shaped epiphyses of the hands and feet.	false
+1e4841502ca4f4c5e2242bf49dd607bc3e2070a6	@DISEASE$ (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, @PHENOTYPICFEATURE$ (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis.	false
+a22c82316252002a87a58c653de6b3dd3e80db97	We first identified the Phox2b human ortholog, PHOX2B, as the gene underlying @DISEASE$ (CCHS, or Ondine curse), with an autosomal dominant mode of inheritance and de novo @PHENOTYPICFEATURE$ at the first generation.	false
+31c9df6b381997ff44a91783bf9cf3d1b98b9f32	@PHENOTYPICFEATURE$ and hyperinsulinaemia might be suspected in children with @DISEASE$ presenting with seizures and hyperhydrosis; though, further studies are needed to confirm this association.	false
+43446d0c5891df76c06510e56eaa145c3cf92991	Among the detected anomalies there were 30 hydronephrotic fetuses, 12 with multicystic disease, 15 with Potter's syndrome, 10 with polycystic kidney, 9 with @DISEASE$, 4 with isolated @PHENOTYPICFEATURE$ and 1 with an ovarian cyst.	false
+fcc5f2c54e9fa5bebdb87af38fb14ec76d4f17fd	These were: vesicoureteral reflux (99 cases or 30,75%), hypospadias (62 cases or 19,26%), pelviureteric junction obstruction (42 cases or 13,04%), megaureter (35 cases or 10,87%), duplex pelvis and ureter (16 cases or 4,97%), bladder diverticulum (8 cases or 2,48%), ureterocoele (7 cases or 2,17%), stenosis of the external urethral opening (6 cases or 1,86%), ectopic kidney, duplex kidney and pelvis (each 5 cases or 1,55%), polycystic kidneys and urethral stricture (each 4 cases or 1,24%), multicystic kidney (3 cases or 0,93%), kidney agenesis, ureter agenesis, urethral diverticulum, ectopic ureter, horseshoe kidney and fetal kidney (each 2 cases or 0,62%), renal aplasia, urethral atresia, @PHENOTYPICFEATURE$, urachal cyst, epispadias, bladder exstrophy, renal hypoplasia, renal malrotation and @DISEASE$ (each 1 case or 0,31%).	false
+be3db732ac769554705038764e640ca14eed85fc	Primary cervical and @DISEASE$ (CD and OMD, respectively) are well-recognized @PHENOTYPICFEATURE$, often treated with botulinum toxin (BTx).	false
+ff12bd267252ce01bbf91273cf2a0ea514655ed9	It is used in a variety of @PHENOTYPICFEATURE$ like hemi-facial spasm, focal dystonias like blepharospasm, cervical dystonia, @DISEASE$, limb dystonias.	false
+e4f63b44f96bf35bb372fab6072c514c87a27fe8	@DISEASE$ is a @PHENOTYPICFEATURE$ that is characterized by involuntary masticatory and/or lingual muscle contracture.	false
+d7544147f3a31fb7be7e3281a227fcb575459090	The @PHENOTYPICFEATURE$ initially manifested with @DISEASE$ and limb chorea, but at the time of death was characterized by a severe dystonic syndrome.	false
+4f102503f7fe45312f21e939214ea80d60ce5e4b	Mean total scores of the questionnaire significantly differed among @DISEASE$ (32.0), temporomandibular disorders (10.4; one-way analysis of variance, p?<?0.001), oral dyskinesia (21.0; p?<?0.001), and psychogenic (functional) @PHENOTYPICFEATURE$ (13.7; p?<?0.001).	false
+e8a81acc74ccdb0c31928cb5b74312cfd901f7cb	Lingual dystonia is a subtype of @DISEASE$, which is a @PHENOTYPICFEATURE$ characterized by involuntary sustained or intermittent contraction of the masticatory and/or tongue muscles.	false
+fdbbf9f73a8b3b182505a370d90b83f98540c814	@DISEASE$ (OMD) is a @PHENOTYPICFEATURE$ characterised by involuntary, repetitive, and patterned muscle contractions of varying severity, affecting the jaws, tongue, face, and pharynx.	false
+fcb86905d50416b8558005299ab882a9f6e3b725	Blepharospasm and @DISEASE$ are clinically similar to other hyperkinetic @PHENOTYPICFEATURE$.	false
+3a9f4e364af22bef01d2d243a1d74a5a207b06ab	This article reviews three poorly recognized yet relatively common presentations of hyperactive orofacial @PHENOTYPICFEATURE$: @DISEASE$, orofacial dyskinesia, and drug-induced extrapyramidal syndrome reactions.	false
+6804d8e8ce8165cc6bd4e14d6287e94cead7789c	This article reviews three poorly recognized yet relatively common presentations of @PHENOTYPICFEATURE$ orofacial movement disorders: @DISEASE$, orofacial dyskinesia, and drug-induced extrapyramidal syndrome reactions.	false
+ba80346ffe6e5f080f9f48ec2cdc66452e82e920	@DISEASE$ (OMD) is defined as a subset of @PHENOTYPICFEATURE$ characterized by involuntary muscle contraction in different parts of the oromandibular region.	false
+9fed2709d44d1c49cfa27f5911c0f6adf9d1c0ec	Phenotypes associated with each of the new mutations include severe @DISEASE$ (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, @PHENOTYPICFEATURE$ and mild or even absent atrophies in the lower limbs.	false
+ffcee4a85da5804ffd550d2fa9b50dc08c2e2da4	This was a prospective, single-arm interventional study in 34 elderly subjects with @PHENOTYPICFEATURE$ who answered the geriatric depression scale-short form (@DISEASE$) questionnaire and the mini mental state examination (MMSE) test, prior to, and 3 months following the use of hearing aid, after obtaining the patients' consent to participate in study.	false
+5c1e4b0f729e2c69c24d05c788e1a2083e8976dc	Thirteen non-gynecological co-morbidities were documented throughout the years, including five autoimmune diseases (i.e., systemic lupus erythematosus, ankylosing spondylitis, multiple sclerosis, bronchial asthma and Crohn's disease), urinary bladder diverticulum, osteoporosis, @DISEASE$, cardiovascular diseases, gastroesophageal reflux disease, malignant tumor of urinary bladder, Barrett's esophagus and bilateral @PHENOTYPICFEATURE$.	false
+e87758e2a300568381c10e1c73f3d8fa9c08d97b	Association of @DISEASE$, cystic renal disease, and @PHENOTYPICFEATURE$.	false
+550b832fdc3c6dd08b0f0e76e2c0197b6138a93c	We report on the long QT syndrome occurring in conjunction with nontoxic @DISEASE$ and @PHENOTYPICFEATURE$ in several siblings of a large family.	false
+ae5e2ca2eb57eb60cdb2c40f806e48f7bceb057f	An infant with persistent @DISEASE$, diffuse nesidioblastosis, and mixed @PHENOTYPICFEATURE$ of the liver (MHL), in addition to demonstrating clinical, pathologic, and molecular manifestations of Beckwith-Wiedemann syndrome (BWS), is the subject of this report.	false
+e56f959f61e50db36b84ee4748a18088c8b19b87	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and @DISEASE$), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+b15578b73c7cc8e8e5fc9765a3ecdbd95e7ff841	Forty-six subjects (10 @PHENOTYPICFEATURE$/36 @DISEASE$) were assessed.	false
+287c0a3e847ff1f97dddcbc975a114b23ead14d2	@PHENOTYPICFEATURE$ may help differentiate @DISEASE$ from other causes of chronic cholestasis.	false
+8105bd7e5afdd1a3e77de33b68d0e597a691981b	We suspect significant under-reporting of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+fc3e4ac40f89ea26a8448336ef9d604fe359128b	To compare the @PHENOTYPICFEATURE$ in @DISEASE$ with those in patients with chronic cholestasis due to other causes.	false
+3b8c5235472d9e56cc0190df4a47236267b1513f	@PHENOTYPICFEATURE$ in children with @DISEASE$: an analysis of 50 consecutive patients.	false
+2bfed5e812ddf66f8f4c42160cc597de20c49a3d	@PHENOTYPICFEATURE$ are significantly more common in @DISEASE$ than in chronic cholestasis of other causes and are frequently overlooked.	false
+e1f593ba37b553386adba809b38c8a1af099c149	Two of them had @DISEASE$ and the other two, @PHENOTYPICFEATURE$.	false
+fa58baf9bcf445489da224e9b4890d6416a48068	@DISEASE$ may mimic @PHENOTYPICFEATURE$ in early infancy.	false
+8d2617e8e009042e4d93c76cf03b86ef5875dde0	@PHENOTYPICFEATURE$ were misreported in 54% of cases of @DISEASE$.	false
+191d84300a8192162450d7a49342e56fdb4413b0	Multiple @PHENOTYPICFEATURE$ occurred in 48% of patients with @DISEASE$ (mean 2.5 anomalies).	false
+c10ed916317e1b80d880d4e640093c28cc1f18e2	Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause @DISEASE$ (cerebral, ocular, dental, auricular, and @PHENOTYPICFEATURE$), a systemic disease that can include infantile cataract.	false
+2cb4b355f995e66baaf2cc9ac989313fb9384c5a	@DISEASE$ is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and @PHENOTYPICFEATURE$.	false
+abe254be976c17654c486c703a4e275e15cfa368	Overall, LonP1, as opposed to ClpP, appears to have no effect on translational machinery, instead it shows enhanced respiratory dysfunction; this agrees with reports on the human @DISEASE$ (syndrome with cerebral, ocular, dental, auricular, and @PHENOTYPICFEATURE$) caused by LonP1 mutations.	false
+6d24f3f7b884b2bda36c27676af83d28ccab367a	Patients with @DISEASE$ or related phenotypes were examined by experienced @PHENOTYPICFEATURE$ neurologists, and DNA samples were obtained for genetic study.	false
+eb1c2994ad0d50aa3dc5be3ec6fa85a084e0b516	The aim of this study was to investigate the prevalence of rapid eye movement @PHENOTYPICFEATURE$ (RBD) in Chinese patients with multiple system atrophy (MSA) and to compare motor and non-motor symptoms and sleep disturbance of @DISEASE$ patients with and without RBD.	false
+e9a92a24550bb19a594b52356f24e251fcb0945d	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+cf9192b0052f2a5e8ce18c78237e688fbe7eb2a9	The MMPI-168(L) and @DISEASE$ in assessing psychopathology in individuals with @PHENOTYPICFEATURE$: between and within instrument associations.	false
+c6f7117095dd92d01b9f624ca7a4e15476581e45	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, @PHENOTYPICFEATURE$, speech/language disorder, learning disability, and @DISEASE$/ADHD.	false
+7ec047f6e7876020919d30197d1493eed1e6caec	After accounting for gender, insurance coverage, race, and parental education, children in the sample born preterm were more likely to experience developmental delay, intellectual disability, speech/language disorder, learning @PHENOTYPICFEATURE$, and @DISEASE$/ADHD.	false
+91c3ecda0c87695390a0955fb3c8d5e3aed228c1	Approximately 10% of cases present at an age of onset before 65 years old, which in turn can be monogenic familial AD (FAD) or @PHENOTYPICFEATURE$ early-onset @DISEASE$ (sEOAD).	false
+2aef1192a4e6c0648a39d5da6d3c14fef7aaff48	Approximately 10% of cases present at an age of onset before 65 years old, which in turn can be monogenic familial @DISEASE$ (FAD) or @PHENOTYPICFEATURE$ early-onset AD (sEOAD).	false
+58113f3d995e3aec2508c667e800540be6db009d	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (@DISEASE$), motor seizure duration (MSD), stage 5 duration (S5D) and @PHENOTYPICFEATURE$ duration (SD), but only the effect on ADD was dose-dependent.	false
+8ecf9b51526ad066f88a517c30318fa5e80f15b8	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (@DISEASE$), @PHENOTYPICFEATURE$ duration (MSD), stage 5 duration (S5D) and seizure duration (SD), but only the effect on ADD was dose-dependent.	false
+ea48760732e7a3e6e2cc0c2483c9d995cd2177e7	@PHENOTYPICFEATURE$ level and after-discharge duration (@DISEASE$) were analyzed.	false
+473a19c64849aaf7709ecb1b47d3b83878fe6ca6	Diffuse white matter involvement with frontal predominance is typical of infantile @DISEASE$ that is clinically characterized by progressive motor and @PHENOTYPICFEATURE$, seizures, and megaloencephaly.	false
+8c293e2252ca8f970bec003d135f5a8a4ef0791e	Diffuse white matter involvement with frontal predominance is typical of infantile @DISEASE$ that is clinically characterized by progressive motor and mental retardation, @PHENOTYPICFEATURE$, and megaloencephaly.	false
+3715feeda6a008bfaa70fee24208d299b517be78	These results provided information on the potential pathological mechanisms underlying the elevated A?42/A?40 ratio in familial @DISEASE$ patients and in the local environment of @PHENOTYPICFEATURE$ AD brains.	false
+9676e8cb6e827ab335fe25f94f277f2375928891	These results provided information on the potential pathological mechanisms underlying the elevated A?42/A?40 ratio in familial AD patients and in the local environment of @PHENOTYPICFEATURE$ @DISEASE$ brains.	false
+7e127ed59b675a08782e7542451c887be1b31a63	The aim of this study was to determine whether the functional rs4880 SNP in the SOD2 gene is a risk factor associated with aMCI and @PHENOTYPICFEATURE$ AD. 216 subjects with aMCI, 355 with @DISEASE$, and 245 controls have been studied.	false
+6e383a27f6bc5d9ef0d1233f116d095dec4b57db	The aim of this study was to determine whether the functional rs4880 SNP in the SOD2 gene is a risk factor associated with aMCI and @PHENOTYPICFEATURE$ @DISEASE$. 216 subjects with aMCI, 355 with AD, and 245 controls have been studied.	false
+37c41c5762a6f65f71e1601457c028775e211b42	Validity of the schizophrenia diagnosis of the psychiatric assessment schedule for adults with developmental @PHENOTYPICFEATURE$ (PAS-@DISEASE$).	false
+27663d00b786d1056f32dfcf7b02f69ce290dbc1	Recent genetic studies of @PHENOTYPICFEATURE$ cases of @DISEASE$ have identified a score of risk factors, as reported by Hollingworth et al. (Nat Genet 43:429-435, 2001) and Lambert et al. (Nat Genet 45:1452-1458, 2013).	false
+b5e307047372155fd507bffea2a00452efaa630c	@DISEASE$ can present as a @PHENOTYPICFEATURE$-like brain lesion, very difficult to differentiate from other opportunistic infectious or neoplastic processes.	false
+130f9e4155fed7f3575c9354fc84f14db99fbcde	We found a higher incidence of malignant @PHENOTYPICFEATURE$ after heart transplantation for treatment of chronic @DISEASE$.	false
+7ef6f224f3f581e04fb1046f14b79408b7054cb4	A case of congenital @DISEASE$ in which @PHENOTYPICFEATURE$ were observed on examination at the age of 5 months is described.	false
+103d82849bb74958e3fad8f0ffb9c202abb7c514	Seventeen patients (26.5%) had at least one episode of Chagas' disease reactivation, and univariate analysis identified number of rejection episodes (p = 0.013) and development of @PHENOTYPICFEATURE$ (p = 0.040) as factors associated with @DISEASE$ reactivation episodes.	false
+6deedf77f5fb446a3097d7c955d9ae28772f39af	Seventeen patients (26.5%) had at least one episode of @DISEASE$ reactivation, and univariate analysis identified number of rejection episodes (p = 0.013) and development of @PHENOTYPICFEATURE$ (p = 0.040) as factors associated with Chagas' disease reactivation episodes.	false
+caf886e4dc10bc049b92fe37c2d78fa4b113bdfb	Today, all patients younger than 50 years with @DISEASE$ in the acute, chronic symptomatic or chronic asymptomatic phases should receive treatment, except for pregnant women, patients with hepatic or @PHENOTYPICFEATURE$, or advanced cardiac or digestive manifestations.	false
+0b7170d60f4b2130d754296606ea59419895f3d4	The objective was to determine the occurrence of gynecologic @PHENOTYPICFEATURE$ (GN) and demographic characteristics in patients with @DISEASE$ (CD).	false
+81621ae719f53a10e2cf348719e1efb5e887694e	Achalasia due to @DISEASE$ occurred in one patient and a second primary @PHENOTYPICFEATURE$ developed in the larynx in another patient.	false
+6dc00e4f9829b40f9c5bc380775d3bb27f1ba230	Recently, a patient with neuroblastoma who acquired @DISEASE$ was treated with nifurtimox with subsequent reduction in @PHENOTYPICFEATURE$ size.	false
+b59b628084cf444c26e0789c5deb066ef5c81360	Correlation of transforming growth factor-?1 and @PHENOTYPICFEATURE$ necrosis factor levels with left ventricular function in @DISEASE$.	false
+f3a138a2c1490320ad4830a101a7ef86e4d36338	Interleukin-10 and @PHENOTYPICFEATURE$ necrosis factor-alpha serum levels in chronic @DISEASE$ patients.	false
+d2c5c037b7860f0f49e0dfb336bee8be5e368881	While nonaccidental trauma is a much more common cause of metaphyseal bone fractures, @PHENOTYPICFEATURE$, and subdural hematomas in infants, @DISEASE$ should be considered in the setting of corroborating signs and symptoms, as early diagnosis and treatment can delay progression of the disease.	false
+af6d5883aaa32c22fd6c0a99df6b2e50b20441fe	We conclude that @DISEASE$ in females manifests with a variable spectrum of clinical findings but a few are uniformly present such as neurodevelopmental @PHENOTYPICFEATURE$, hypotonia, and connective tissue findings.	false
+4925cfaeea27ceb110cbd8b76ff8491bc99bdf21	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), brain tumours (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (@DISEASE$), neurotrauma, Parkinson's disease (PD), @PHENOTYPICFEATURE$ (SB), and Tourette's syndrome (TS).	false
+b4b2f9a66d42e24374cd8af7ead70b8aeac61607	The neuropathological findings in two siblings with @DISEASE$ were compared with representative material obtained from lambs suffering from swayback (enzootic @PHENOTYPICFEATURE$).	false
+f65f5accd9ba5ea030c8bb3fbe147ab0556229a8	@PHENOTYPICFEATURE$ is among the most serious complications of @DISEASE$.	false
+fe1b2a2c15f7c992762e38cdc72977ceeed70b81	A case of @DISEASE$ type IIa in a, @PHENOTYPICFEATURE$, 6-year old girl with nevus flammeus of the face and palate, bilateral ocular melanosis, aberrant mongolian spots and minor dysmorphic traits is reported.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+05d1dccd655ca1f5111adf6739e70650ae640a4a	They both presented a constellation of features typical of @DISEASE$, including coloboma, auricular malformations, heart and @PHENOTYPICFEATURE$, as well as hepatic dysfunction, which led to severe effects.	false
+f726815cf74af553ced54c72e5c641064fe4c14b	There is a high degree of correlation between @PHENOTYPICFEATURE$ incidence and invasiveness of @DISEASE$.	false
+8ef7749dbc1da30d76979e0000f8fab2916541c6	Many patients with @DISEASE$ experience bladder dysfunction, although the type of @PHENOTYPICFEATURE$ is quite variable in the clinical setting.	false
+50b2cada5f42cda88ba4c85847cff3a8aac2add5	We report a case of atypical @DISEASE$ that developed after cardiac catheterization in a diabetic man; it presented as subacute @PHENOTYPICFEATURE$ with proliferative and exudative endocapillary glomerulonephritis.	false
+c3816ecfb05c41cf827dcf5a3baf6a6d17ec9e68	The @DISEASE$ is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, @PHENOTYPICFEATURE$, skeletal anomalies and frequently mental and physical retardation.	false
+6d2a44e51bca0370c2fe24b4b35b8368cb69b213	Despite anecdotal reports of successful anticoagulation in @DISEASE$ patients with certain indications, irreversible @PHENOTYPICFEATURE$, which was sufficiently severe to require chronic hemodialysis, eventually developed in our patient.	false
+ac8a9479adacc935f8ce37521f000f6f30c2946e	: We conducted a retrospective study by reviewing the medical records of patients diagnosed with @DISEASE$ and @PHENOTYPICFEATURE$ between 2005 and 2011.	false
+b2c89724132f07667f0ccf4a3e042b4f31cccf3e	The @DISEASE$ (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+1b9a3aae65ea835b26b750cfcf1ba9ab2e512e69	The cat eye syndrome (@DISEASE$), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, @PHENOTYPICFEATURE$, and mental and physical retardation.	false
+a8a20b4c18d1de552b5a7e88dd1c8201b9261148	The unique feature of @DISEASE$ is the rapidity of expression of cellular @PHENOTYPICFEATURE$ and interpretation of the simulated tumor in 4 d as a simulated fibrosarcoma.	false
+d8cf1834fa7b897d69bb2b0791d9702f9912a306	The unique feature of @DISEASE$ is the rapidity of expression of cellular neoplasia and interpretation of the simulated @PHENOTYPICFEATURE$ in 4 d as a simulated fibrosarcoma.	false
+9a79111ef12bbc16f8e17a58ff40385f075c3b63	As in OCD and @DISEASE$, the essential @PHENOTYPICFEATURE$ in AN was impaired use of organizational strategies, which may inform our understanding of the pathophysiology of AN and potentially offer treatment implications.	false
+4f3e58b553aa1a4c161735d8103ba143f4a7104e	The lower cranial nerve functions were analyzed retrospectively in 32 cases with jugular foramen tumors in the past six years, including 12 jugular glomus, 10 schwannomas, three meningiomas, one @PHENOTYPICFEATURE$, two giant cell tumors, one fibromatosis, one chondromyxosarcoma, one adenoid cystic carcinoma and one @DISEASE$.	false
+a3ad4cd147069f254b9ce7db5016bd205201283d	Most idiopathic @DISEASE$ patients made a good recovery, but residual @PHENOTYPICFEATURE$ tended to persist in older patients.	false
+14e64927b67521418cc04e2a34c2841a1c8adbb7	Ninety-three patients with a diagnosis of Parkinson's disease, otherwise unselected, were specifically evaluated for organic mental syndrome (@DISEASE$) and other neurologic motor signs other than those referrable to @PHENOTYPICFEATURE$; in addition, they had cranial computerized tomography (CT) to measure any structural changes in brain parenchyma.	false
+a376a83c13518650a1042b81abf6faeac05668d3	Metoclopramide can precipitate extrapyramidal symptoms (@DISEASE$)/drug-induced @PHENOTYPICFEATURE$ (DIMD).	false
+931dc7e7122b8ae37cbccf77231feb6c218b234f	Unfortunately, these drugs may cause a variety of distressing acute and delayed @PHENOTYPICFEATURE$, collectively known as 'extrapyramidal symptoms' (@DISEASE$).	false
+b71b0bd3169e8794b2ed7ad5ab2d16ba6ec3031a	However, there is general agreement that pre-existing extrapyramidal signs (@DISEASE$) increase the vulnerability of the patient to developing significant drug-induced @PHENOTYPICFEATURE$.	false
+51780a03df6d485cc75ef5002f9b1d3d23320701	This study aims to further evaluate the impact of family history of primary @PHENOTYPICFEATURE$ (FHpMD) and a candidate genetic variant on risk of antipsychotic-induced extrapyramidal symptoms (@DISEASE$).	false
+5f67576fe62584ffb5cdb859863b88634dc992ec	Neuroleptic-induced @PHENOTYPICFEATURE$, or extrapyramidal side effects (@DISEASE$), can be classified into acute and tardive syndromes.	false
+b8bd28477bd13bdcd107b105df65103cf1c1c4d0	We recently reviewed our cohort with @DISEASE$ in FTD and identified 22 patients with the @PHENOTYPICFEATURE$ as a first syndrome and another larger group of 48 patients who developed EPS after an initial onset with a cognitive disorder: aphasic, behavioral or both.	false
+997ad69b10d702a629e3928360495dbf61f62ef9	We recently reviewed our cohort with EPS in FTD and identified 22 patients with the @PHENOTYPICFEATURE$ as a first syndrome and another larger group of 48 patients who developed @DISEASE$ after an initial onset with a cognitive disorder: aphasic, behavioral or both.	false
+22072583a5881faf7aa11fb0f22e91adcec5e542	This article reviews the mechanisms of neuroleptic-induced @DISEASE$ and tardive dyskinesia and discusses the relationship between these @PHENOTYPICFEATURE$ and atypical antipsychotic agents.	false
+478731e73c70553996cb1d286cc36b87350402a4	Anticholinergic treatment of neuroleptic extrapyramidal @PHENOTYPICFEATURE$ (@DISEASE$) has been associated with induction of tardive dyskinesia.	false
+75d68087b67d45254a62807033fc0256a8f08391	Data from clinical trials reviewed in this article fulfill predictions based on preclinical findings that atypical antipsychotic drugs are associated with a reduced potential for inducing extrapyramidal symptoms (@DISEASE$) and other @PHENOTYPICFEATURE$.	false
+14aa817b2c0c55056edc80a2ee2bdc78d70201b2	It is well known that multiple classes of drugs used to treat psychiatric diseases produce extrapyramidal side (@DISEASE$) effects and consequent @PHENOTYPICFEATURE$ in humans.	false
+ba3bca472694dcadc227e73de77b02508c59afd7	@DISEASE$ in short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation.	false
+188e26ed530cf5d5e8e73c5d7f6caf97e28f299f	@DISEASE$ in @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation.	false
+9537bb7acd6e107dd2343790a7e0a0d11eea9012	In addition, fundus examination showed @DISEASE$ with @PHENOTYPICFEATURE$.	false
+247576b81973e7a426bdbf1b3ef02bc7f26779dd	In addition, four siblings had the combination of hyperopia-estropia-@PHENOTYPICFEATURE$, as well as ocular albinism, manifested by @DISEASE$ and transilluminable irides.	false
+900cb3d1061feb3d6639b6484fd8c10a0cdbe1f7	The diagnoses at Location V were varied and included retinopathy of prematurity (19.4%), @PHENOTYPICFEATURE$ (19.4%), retinitis pigmentosa (14.5%), optic nerve hypoplasia (12.9%), cataracts (8.1%), @DISEASE$ (8.1%), persistent hyperplastic primary vitreous (4.8%), and microphthalmos (3.2%).	false
+f6921aac2249fac166053c1fa62b6baa5fae5e41	Endometrial cancer survivors with @PHENOTYPICFEATURE$ underestimated their obesity and lacked knowledge regarding the link between obesity and @DISEASE$.	false
+2271a31b3d338aa0c8e3bdf2ce67b4f9c83f85ac	Endometrial cancer survivors with obesity underestimated their obesity and lacked knowledge regarding the link between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5ab226b37bb1f270db05b1dd79ceb95062f01b03	Endometrial cancer survivors with obesity underestimated their @PHENOTYPICFEATURE$ and lacked knowledge regarding the link between obesity and @DISEASE$.	false
+cdab751b25e5f3b62ee80ace3bf036f5e916e997	@DISEASE$ survivors with obesity underestimated their @PHENOTYPICFEATURE$ and lacked knowledge regarding the link between obesity and endometrial cancer.	false
+068dd2f63d54e32e7f221abc7464c2d55edb3ccf	@DISEASE$ survivors with @PHENOTYPICFEATURE$ underestimated their obesity and lacked knowledge regarding the link between obesity and endometrial cancer.	false
+bad1150b05b18c7c4c1ca2d17a09f192f59c3986	@DISEASE$ survivors with obesity underestimated their obesity and lacked knowledge regarding the link between @PHENOTYPICFEATURE$ and endometrial cancer.	false
+780027dca239296ba3e07cf61f02b52c7cb14e17	@DISEASE$, @PHENOTYPICFEATURE$, and estrogenic excretion in women.	false
+6c86abfd0b0aee85bc0793b8b272d9fb845d85e7	[Overweight, @PHENOTYPICFEATURE$, diabetes, and hypertension in @DISEASE$].	false
+af228356dd812098f803a08e8a13b2f43020e360	For some cancer types, there is also some evidence that weight gain during adulthood increases cancer risk, e.g., colorectal cancer, postmenopausal breast cancer, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+51ec78e6dee7f922d774891f6818094d378fe170	Understanding @PHENOTYPICFEATURE$ and @DISEASE$ risk: opportunities for prevention.	false
+30072ee86a53059d42a4d11294ecca1cf28df5cb	Association of @PHENOTYPICFEATURE$ with survival in patients with @DISEASE$.	false
+27ab8ecb93624e0f560de699668b89f49c01be73	Overweight and @PHENOTYPICFEATURE$ are strongly associated with @DISEASE$.	false
+985e07c5b065e9735917154fe595958a19611dca	The strongest known risk factor for @DISEASE$ is @PHENOTYPICFEATURE$.	false
+35a096b8439944829b132f484387ff6e8e2782ee	Defining obesity by BF may provide better estimation of obesity prevalence in patients with endometrial cancer and further understanding the relationship between BF with @DISEASE$ may give more information about the effects of @PHENOTYPICFEATURE$ on endometrial cancer.	false
+05dbdfc30891ef1a5772c5aec483314e81b17125	Defining obesity by BF may provide better estimation of @PHENOTYPICFEATURE$ prevalence in patients with @DISEASE$ and further understanding the relationship between BF with endometrial cancer may give more information about the effects of obesity on endometrial cancer.	false
+ab15b63a0fee77ea4d3662ceb48e369b164fa3e3	Defining obesity by BF may provide better estimation of @PHENOTYPICFEATURE$ prevalence in patients with endometrial cancer and further understanding the relationship between BF with @DISEASE$ may give more information about the effects of obesity on endometrial cancer.	false
+9efe0facd2eb510f8f37926ab42d1c1d1fa0ed91	Defining obesity by BF may provide better estimation of @PHENOTYPICFEATURE$ prevalence in patients with endometrial cancer and further understanding the relationship between BF with endometrial cancer may give more information about the effects of obesity on @DISEASE$.	false
+c0cf11ab684b8d9126bb080869365c658a13e771	Defining obesity by BF may provide better estimation of obesity prevalence in patients with @DISEASE$ and further understanding the relationship between BF with endometrial cancer may give more information about the effects of @PHENOTYPICFEATURE$ on endometrial cancer.	false
+8a1c604622c069a87cb416c02a8fe519b7816d11	Defining obesity by BF may provide better estimation of obesity prevalence in patients with endometrial cancer and further understanding the relationship between BF with endometrial cancer may give more information about the effects of @PHENOTYPICFEATURE$ on @DISEASE$.	false
+10e0b9df8900c34d60e95b62321efc82aef2cb18	[Epidemiological survey on the relationship between @PHENOTYPICFEATURE$ and @DISEASE$].	false
+b076d0f0dcc01f2af040e779051f6c52cedb8cdc	A hypothesis about @PHENOTYPICFEATURE$ development and the clinical features of @DISEASE$.	false
+8acd93fbde4a1e7f502e81d08567b48f9b86ea16	The Ontario Familial Breast Cancer Registry collects clinical and family history data in @DISEASE$ cases, and unselected Ashkenazi breast carcinomas, and acts as a @PHENOTYPICFEATURE$ tissue repository.	false
+5965dc6c209fd030079a4eaaeeb5089fb476be54	The Ontario @DISEASE$ Registry collects clinical and family history data in familial breast carcinoma cases, and unselected Ashkenazi breast carcinomas, and acts as a @PHENOTYPICFEATURE$ tissue repository.	false
+35c0972679b1d987ce3888683d138c1d1e4c885f	@PHENOTYPICFEATURE$ characteristics and prognosis in @DISEASE$.	false
+6b737643b10cf64b52daba18b3c83bba7e9357c5	Letter: @DISEASE$, soft-tissue sarcomas, and other @PHENOTYPICFEATURE$.	false
+837bcad2e1e98f038587187cc452c41394c31778	Survival and @PHENOTYPICFEATURE$ characteristics of German @DISEASE$ patients.	false
+d0366f6883701601b2e3a8dbccf7b81e00db795a	@DISEASE$ patients whose @PHENOTYPICFEATURE$ were diagnosed before the age of 40.	false
+5a54d570b6e11baee969f7b7731ec9cc112758cd	Ipsilateral breast @PHENOTYPICFEATURE$ recurrence in @DISEASE$ following breast-conserving therapy.	false
+06d8d195bf0c90728a4ca07f4dac9b25da7cab27	@PHENOTYPICFEATURE$ characteristics and survival in @DISEASE$ prospectively diagnosed by annual mammography.	false
+bc738777d229cf13ff97d11d4af9b1fccf83a950	Phenotypic analysis of familial breast cancer: comparison of BRCAx @PHENOTYPICFEATURE$ with BRCA1-, BRCA2-carriers and non-@DISEASE$.	false
+358bff647092df7a4e6e0111deea4c205a1ccb85	Phenotypic analysis of @DISEASE$: comparison of BRCAx @PHENOTYPICFEATURE$ with BRCA1-, BRCA2-carriers and non-familial breast cancer.	false
+ed97154fd0c3967410f1e6a992aabd1739c5cbab	BRCA2 is a @PHENOTYPICFEATURE$ suppressor directly implicated in @DISEASE$.	false
+9758f6b32f67eba89a10e2739708b4b558138704	We describe a new additional family with this rare disorder; @DISEASE$ (JMS) where mother, son, and distant grandmother have multiple features of JMS in the form of microtia, facial asymmetry, ear malformation, @PHENOTYPICFEATURE$, and hypotrichosis.	false
+8d2592d2bec941d4f89200bf4d4491ec9bd14304	Pediatric @PHENOTYPICFEATURE$ @DISEASE$: case report and literature review.	false
+923773b7dfef6e877aa518a45fcae905e12d5091	Generalized hair-follicle @PHENOTYPICFEATURE$, associated with alopecia, aminoacidura, and @DISEASE$.	false
+d333926541a2054a6f9ba0c717db5b9966b0fdb4	A 55-year-old woman with bilateral ptosis, @PHENOTYPICFEATURE$, and severe dyspnea had been previously diagnosed with @DISEASE$.	false
+30b84e4c9959eee581d186f0e2b1613d6058028b	We now describe four additional patients with autosomal recessive EB simplex, three of whom had associated @PHENOTYPICFEATURE$ or congenital @DISEASE$.	false
+943245cc5c77fef5462157fcdf248f7c059df416	Five cases had comorbid conditions including one case with @PHENOTYPICFEATURE$ and mental retardation, three cases with chronic ethanolism, and one case with thymoma, sarcoidosis, and @DISEASE$.	false
+420608be1cef8e839d76c48aaa078e159d455a32	[A case of @DISEASE$ associated with rheumatoid arthritis, Sj?gren's syndrome, @PHENOTYPICFEATURE$ and hyperthyroidism].	false
+821008190574f7aa96ee7a7d2451f2e345949d37	Generalized hair follicle @PHENOTYPICFEATURE$ associated with alopecia and @DISEASE$: report of a second case.	false
+abd750588e1ead56087508c48e33344ba8ae7d57	The remainder were for patients with post-polio syndrome, @PHENOTYPICFEATURE$ and mixed disorders, such as Charcot-Marie-Tooth disease, @DISEASE$ and myotonic dystrophy.	false
+c11b81387be80416cd93afc4142a4e5d56ae1500	Generalized hair follicle @PHENOTYPICFEATURE$: the third case report in association with @DISEASE$.	false
+005a78a608ebbee3a100562fa228ee1ba8f03a5c	Common myopathies seen in companion animal medicine include polymyositis, @PHENOTYPICFEATURE$, endocrine and infectious myopathies, and @DISEASE$.	false
+291ef1390f3339bea1e805f6b4d0f1740201c91f	Geographic opinions on @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9d6c4a36e3b5abeb92ac24d13ff4e53fee6a3df4	Pathogenic variants in the RNA Polymerase (Pol) I subunit POLR1A cause @DISEASE$, which is characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+3171ab0fd6779b2e2b59bae078893609911e4b4d	Limbal epithelial stem cells (LESCs) play important roles in corneal epithelial homeostasis and regeneration, and damage to the limbus will lead to @DISEASE$ (LSCD), with conjunctivalization and even @PHENOTYPICFEATURE$.	false
+5297dfbe00e7ad825400f606203cbbee70d940fa	@DISEASE$ by ocular trauma or diseases causes corneal opacification and @PHENOTYPICFEATURE$.	false
+7d9dc9ffc53fe99b7c730d74b87bbad53baaef2a	The cause of @PHENOTYPICFEATURE$ in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and @DISEASE$.	false
+123c0b75c7c736825766e9d9a8fbc198965bc711	@DISEASE$ was related to advancing age and caused a progressive keratopathy, resulting in a dense vascularized corneal pannus, and eventually leading to @PHENOTYPICFEATURE$.	false
+88cd3024166c43dc07d7ea00941c9ca8e9a4050f	Ocular surface disease arising from @DISEASE$ is characterised by persistent epithelial defects, corneal vascularisation, chronic inflammation, scarring and conjunctivalisation, resulting in @PHENOTYPICFEATURE$.	false
+034021ab9ce4f0623fab06b745d7d965341a9aa1	@DISEASE$ (LSCD) can lead to corneal opacity and vascularization, with consequent @PHENOTYPICFEATURE$ or blindness.	false
+3988c8f4b2ebdbe9c434c42ef50dbbbb4e286284	The stage-related therapy of congenital aniridia should always be based on a global view of the potentially increasing severity of @PHENOTYPICFEATURE$, glaucoma and corneal @DISEASE$ during the lifetime.	false
+b6be7093ad4c5e58e084a1eba48f11a10509ceb2	Outcome of @PHENOTYPICFEATURE$ surgery following simple limbal epithelial transplantation for lime injury-induced @DISEASE$.	false
+55a914dfc65fbee5b35d2a0eb1cf092cbbd430e7	@DISEASE$ (LSCD) is one of the serious cause of @PHENOTYPICFEATURE$ and blindness with loss of corneal clarity and vascularization.	false
+88e992ce9549390ed8adeaf121ba8682811e6ed0	The destruction or dysfunction of these stem cells or their niche induces @DISEASE$ (LSCD) leading to @PHENOTYPICFEATURE$, chronic pain, and inflammation of the ocular surface.	false
+b1a80c7ba12b2201e00416536fa2810d4d37bdb0	@DISEASE$ is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and @PHENOTYPICFEATURE$.	false
+848ce2e8017474de475104f705a9c43d90a6f432	To demonstrate the ocular histopathologic findings in @DISEASE$, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal @PHENOTYPICFEATURE$ and polyhydramnios.	false
+26b8e6a94768f7057a3ccb8bb83a4efab8df9d67	These results provide the first insight into the important physiological roles of SUSD4 and could help to better understand the pathogenesis of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+09ff0dcbaf012195da9df51e3560324c481295b1	However, recent microarray-based studies have identified deletions of SUSD4 gene in patients with @PHENOTYPICFEATURE$ or @DISEASE$, both of which are genetic diseases with severe abnormal neurological development and/or functions.	false
+aa88e4f9770b91230886124716a1bfd97e63f67c	Various @PHENOTYPICFEATURE$ have been identified in roentgenograms of persons with @DISEASE$, but to our knowledge, no histopathologic description of bone or cartilage has been published.	false
+e9f159f78fc05ad0bb8abee772f58e39cbe591b3	The syndrome of diaphragmatic hernia, abnormal face and distal @PHENOTYPICFEATURE$ (@DISEASE$): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.	false
+857e20da9245029babe4a13b8f27949e872060ed	@DISEASE$, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and @PHENOTYPICFEATURE$, was first described in 1979.	false
+558b9f59b3acd980cb8bf8b6523ba135eeac5cac	FS/GBS overlap, BBE, BBE/GBS overlap, AO, @PHENOTYPICFEATURE$ GBS, and acute oropharyngeal palsy isolates were similar to those of FS in serotype (@DISEASE$ or HS:4-complex), genotype (LOS locus class A or B, cst-II genotype [Asn51]), and GQ1b epitope expression on LOS.	false
+c2cffffc2ae8ba4dfaf959edce97862829db71cd	A 2.2-year-old girl presented with prominent lower limb @DISEASE$ deformity, waddling gait and @PHENOTYPICFEATURE$ (79 cm, < P5; -1,85 SD).	false
+75696a4ac61beb0d64d4ca32b366971af3603c36	Three month after surgery, the patient was found to be asymptomatic and even the evidence of the extra-oral sinus had disappeared.The @PHENOTYPICFEATURE$ of @DISEASE$ included congenital missing teeth, globodontia, and multiple complex odontoma.	false
+e214b11b2abab078ab495998c81ccc1a504313ba	@DISEASE$ syndrome with microcephaly, @PHENOTYPICFEATURE$ and profound mental retardation.	false
+72ff16969401c9b78db8d6e119345a5302aa20a6	Typical presentations were headache, @PHENOTYPICFEATURE$, and @DISEASE$ (median duration, 14 days; range, 1-180 days).	false
+e0f87e80ac0d44f1979004e7aa6059c4d74404f9	The first symptoms were manifested by mild consciousness disorders, headache, @PHENOTYPICFEATURE$, and fever with the presence of @DISEASE$.	false
+1630e4f3ba3bc449b1533575ebdb1ae1daa35fbe	One example for model application to tumors of specific organs (@DISEASE$'s @PHENOTYPICFEATURE$) is considered.	false
+f5427fefbab373c56c432918eb710271300111de	She suddenly developed headaches, @PHENOTYPICFEATURE$, fever and @DISEASE$.	false
+f6612db82dc345074f6ddb892d2fc47659a6c5d1	Pain in legs, gait disturbance, headache, @PHENOTYPICFEATURE$ were the characteristic symptoms at the onset of @DISEASE$ carcinomatosis.	false
+882366151d62a6b47f9b8e08e9b0c00e2a322372	The motivation for lumbar puncture (LP) was @DISEASE$ (44%), headache (94%) and @PHENOTYPICFEATURE$ (47%).	false
+5de324377d853c537fd25243ecd289e91743127c	Headache with @PHENOTYPICFEATURE$, fever and @DISEASE$ signs suggests meningitis.	false
+e0a09d4c7fa2dc75d663caaec869270f21af06ef	Carbamazepine-responsive paroxysmal @PHENOTYPICFEATURE$ in a patient with @DISEASE$ carcinomatosis.	false
+a496568357f28457a22a6a06c266c4d7b3f1ff3d	He presented no symptoms at the time of diagnosis of @DISEASE$ carcinomatosis; however, within 2 weeks, neurological symptoms such as disorientation, dysarthria, and @PHENOTYPICFEATURE$ became apparent.	false
+41d67326c68f42b1bbb7cc01f8cf0c23979933c4	In this report, the authors present the case of an 8-year-old boy with a history of @PHENOTYPICFEATURE$ who was found to harbor a @DISEASE$ osteosarcoma within the sylvian fissure.	false
+daf05f0f9d67094191c7b6aeaf95774e2817c030	@DISEASE$ is anecdotal in developed countries, mainly associated with underling clinical morbidities as @PHENOTYPICFEATURE$ or neurological impairment.	false
+b393a89389cab49cfe9cd0f5738d07be42619f61	Parkinsonism has been associated with @DISEASE$, and recent cases of scurvy complicated by Parkinsonism have responded well to intravenous replacement of vitamin C. In this case, deficiency of zinc may have contributed to the development of a @PHENOTYPICFEATURE$.	false
+1baa38383d86ed3a2de830f1a4c4cafc6e77c968	Recent reports indicate that, with restricted diets, @DISEASE$ is being seen in infants exclusively fed plant-based formula and children with oral aversion, @PHENOTYPICFEATURE$, restricted diets, and cerebral palsy.	false
+7b92a7edfe602cc44b409c5febcaecdaff4fa1ec	@DISEASE$ causes hematological and @PHENOTYPICFEATURE$ during fetal development in swine.	false
+b69ed697a7ccd584aa67c56886757d3acc9c65bc	A new case of @DISEASE$ has been reported with additional findings, including @PHENOTYPICFEATURE$, axial rotation of the kidneys, preaxial polydactyly and leukopenia.	false
+5586ca962bfe16fc308efaba490a9d1f0dcaa1e6	Among these deleted genes are the gene for @DISEASE$ and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early @PHENOTYPICFEATURE$ variant of Rett syndrome.	false
+61851a2b2c5b16eb5e463758f587d43d1116a6e1	Moreover, preliminary evidence indicates that metformin may also be effective in decreasing the risk of early spontaneous @PHENOTYPICFEATURE$ in women with @DISEASE$.	false
+516ac24b6b43792d735e0f7ae8ef520bb40998dd	PAI-1 gene polymorphism 4G genetype may be correlated with PCOS in Chinese women, especially in @DISEASE$ patients with non-obese PCOS and spontaneous @PHENOTYPICFEATURE$.	false
+619388a1efc799ceabc0619889bd8d9fb49fef4b	PAI-1 gene polymorphism 4G genetype may be correlated with @DISEASE$ in Chinese women, especially in PCOS patients with non-obese PCOS and spontaneous @PHENOTYPICFEATURE$.	false
+5abddca266800d0c8cb13e989db50c0ca36c0e17	Insulin resistance may be involved in relationship between cardiac @PHENOTYPICFEATURE$ and @DISEASE$.	false
+254bfad5e88b50bccc39190cb544c7cba29a187e	It is associated with hypertension, @PHENOTYPICFEATURE$, fatty liver disease, gout, and @DISEASE$.	false
+71f482f7296864951e4a2dbb96909d5b46289c1e	Cardiac @PHENOTYPICFEATURE$ may develop in patients with @DISEASE$ (PCOS).	false
+0a02e06e16c128d4e7c99e6f4a2736ef3990e247	Recent studies reveal that @DISEASE$ (PCOS) might be associated with cardiovascular @PHENOTYPICFEATURE$, but with inconsistent results.	false
+166e1c682d5f8c3c2fa1aed4ea47b7a74693ceae	Recent studies reveal that polycystic ovary syndrome (@DISEASE$) might be associated with cardiovascular @PHENOTYPICFEATURE$, but with inconsistent results.	false
+323abcccff6faa9df8155e1e8c1cb3f7e20f6723	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and daytime sleepiness: role of insulin resistance.	false
+c80463f28f29f66e2bb3d979d0700abf0eee3f96	@PHENOTYPICFEATURE$ and metabolic dysfunction in @DISEASE$.	false
+4e462db52b66700df8e32c3feeb4ccf28f9e071e	Embryonic aneuploidy does not play a vital role in early @PHENOTYPICFEATURE$ in women with @DISEASE$.	false
+3d66223c42bd07799a45e8ffb15b838540302534	@DISEASE$ patients have @PHENOTYPICFEATURE$ especially in extended high frequencies.	false
+2850dd7f44d8f2cefb044c081d77a0ec475af5b0	Educational status and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3de419879df5e0e79cd1a37f07a6684e9245d9da	It is also unknown how NSSs reveal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d2263c972cc4a300438b91de2366fef34a1a8e9	@DISEASE$ is a debilitating neurodevelopmental @PHENOTYPICFEATURE$.	false
+9624942fbc8bd31bfcaac00403747c873bb2b9a2	@DISEASE$ is associated with @PHENOTYPICFEATURE$.	false
+5ecd09fef41fd999f10343749bd640291294e3fe	@PHENOTYPICFEATURE$ episodes are common among patients with @DISEASE$ or bipolar disorder.	false
+84458311b77aa3e8ba75604c68cd8507b9ee554b	Psychiatric disorders like @DISEASE$ or @PHENOTYPICFEATURE$ are thought to result from disruption of the normal pattern of brain development.	false
+d203a796a91b553576049d056129a1345822037e	@PHENOTYPICFEATURE$ like @DISEASE$ or autism are thought to result from disruption of the normal pattern of brain development.	false
+1d4d56cb84cfc3a2b28e15aaf442bdb41df22bd6	Models of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a62c2bb941393485549f42b6811ea25c8892470d	Impaired neurodevelopment leads to several psychiatric disorders, including @PHENOTYPICFEATURE$, @DISEASE$ and attention deficiency hyperactivity disorder.	false
+b830c77ef8271bf1e534074660df303be7a7f376	Impaired neurodevelopment leads to several psychiatric disorders, including autism, @DISEASE$ and attention deficiency @PHENOTYPICFEATURE$ disorder.	false
+9624942fbc8bd31bfcaac00403747c873bb2b9a2	@DISEASE$ is associated with @PHENOTYPICFEATURE$.	false
+fa171f3d3ef3eb62561abfa0276d69499b756255	Meta-analysis of the association between suicidal ideation and later suicide among patients with either a @DISEASE$ spectrum @PHENOTYPICFEATURE$ or a mood disorder.	false
+94766105b0e6ef7bfda8a62e5fcf27c2d02bed08	Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause @DISEASE$ and hyperostosis @PHENOTYPICFEATURE$.	false
+b583431a4dd86bb88fe69a6b29a508cbb64a3205	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and massive ectopic calcifications.	false
+3b7a30ff5179f1e6657019aa6dfa0285aca1e769	A new case of @DISEASE$ (FTC)/hyperostosis-@PHENOTYPICFEATURE$ syndrome (HHS) due to a novel compound heterozygous mutation in N-acetylgalactosaminyltransferase 3 (GALNT3) and with new phenotypic findings is presented.	false
+64d9fe35193a067dbe966bbadfc727046e4b8f7e	Phenotypic and Genotypic Characterization and Treatment of a Cohort With @DISEASE$/Hyperostosis-@PHENOTYPICFEATURE$ Syndrome.	false
+d413ecd7b9cee54e4f5e44e6e02d17f2d7cf9e46	Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-@PHENOTYPICFEATURE$ syndrome and @DISEASE$ are allelic disorders.	false
+d85324b2669557df95a03971df21a4b1468367c3	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (@DISEASE$/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	false
+61856c8d832c4d996b4f6a673ffd9d0dc4832fef	A case of @DISEASE$/hyperostosis-@PHENOTYPICFEATURE$ syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features.	false
+5f2040bba4f48e525af07de19203291e3e64f3f3	Aberrant glycosylation by N-acetylgalactosaminyl transferases (GALNTs) is a well-described pathological alteration that is widespread in hereditary diseases, prominently including human cancers, @DISEASE$ and hyperostosis-@PHENOTYPICFEATURE$.	false
+bc4868132603fe7387d638a8e7bdb8ab1c77cbd0	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and autosomal dominant hypophosphatemic rickets, whereas low iFGF23 levels are found in the hyperphosphatemic disorder @DISEASE$/@PHENOTYPICFEATURE$ hyperostosis syndrome.	false
+53a182357b11d9a059b4fd33e7c263b283b40fef	HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. @DISEASE$ (TC), characterized by ectopic calcifications and @PHENOTYPICFEATURE$, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes.	false
+5439c27135a8dab674a9b838e3a97902d6e8e62c	@DISEASE$ associated with intramedullary @PHENOTYPICFEATURE$ in a hemicord: a report of two cases.	false
+e81c044ca2e9de07e357cfe96cb30000bfb07cf2	The study group consisted of 32 patients with spinal tumors (seven ependymomas; seven astrocytomas; four hemangioblastomas; two arteriovenous malformations; two unidentified intramedullary @PHENOTYPICFEATURE$; four meningiomas; and single cases of metastatic breast carcinoma, cavernous hemangioma with associated hematomyelia, neurinoma, angiolipoma, drop metastasis from medulloblastoma, and epidermoid with @DISEASE$).	false
+e4f323671deed72e50e261c493db7eda86c199b6	The study group consisted of 32 patients with spinal @PHENOTYPICFEATURE$ (seven ependymomas; seven astrocytomas; four hemangioblastomas; two arteriovenous malformations; two unidentified intramedullary neoplasms; four meningiomas; and single cases of metastatic breast carcinoma, cavernous hemangioma with associated hematomyelia, neurinoma, angiolipoma, drop metastasis from medulloblastoma, and epidermoid with @DISEASE$).	false
+c45d308a900a1c5a449c9b4b5bd2cb4d48487d56	Genetic analysis of 17 presumptively diagnosed patients revealed one case of @DISEASE$ (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and @PHENOTYPICFEATURE$.	false
+f2ddefeb1d910e739b1b3a5737bb368b57c4623b	The reviewed literature on weight loss, obesity, diabetes, cancer @PHENOTYPICFEATURE$, disuse atrophy, motor neuron disease, myotonia, inflammatory myopathies, @DISEASE$, muscular dystrophies and sarcopenia of old age suggests that proteome-wide alterations occur in the expression of distinct protein families, encompassing especially contractile and regulatory proteins of the acto-myosin apparatus.	false
+0a2a623f1fb7aaab08e92ec1018fb5837a848f72	Mutations in the TMPRSS3 gene, which encodes a transmembrane serine protease, are known to cause autosomal recessive non-syndromic @PHENOTYPICFEATURE$ @DISEASE$/10.	false
+bfd6cd9d70210f1e08f75d437d39b8c57fe8a40e	Epileptic seizures, @PHENOTYPICFEATURE$, visual disturbances, hypertension, renal failure and chemotherapy were the best clinical predictors of PRES, while headache, immune suppression and @DISEASE$ were not useful for the clinical diagnosis of PRES in our study.	false
+06b022fee64403305c7c89a84a857d892551675f	@PHENOTYPICFEATURE$, encephalopathy, visual disturbances, hypertension, renal failure and chemotherapy were the best clinical predictors of PRES, while headache, immune suppression and @DISEASE$ were not useful for the clinical diagnosis of PRES in our study.	false
+d91f9c164850350050c6141224fb028deca9a107	Systemic sclerosis (SSc) is an immune-mediated @DISEASE$ characterized by fibrosis and @PHENOTYPICFEATURE$.	false
+d2bb0983af14502657d4af463fbf55652fa1ac0e	More specifically, among @DISEASE$, systemic sclerosis appears as a peculiar multifaceted disease, in which autoimmune phenomena coexist with @PHENOTYPICFEATURE$ and multi-visceral fibrosis.	false
+ee5a454c16a2a7582b8371c9924013aaccec8e29	@PHENOTYPICFEATURE$ as a possible organ-specific @DISEASE$.	false
+8f5bf51ecb824f127eb07cbd88fd9734e561f5f9	Our patient has a significant family history of lung cancer and other @DISEASE$ associated with familial hypercholesterolemia and @PHENOTYPICFEATURE$.	false
+ee3b90d7664e0db6db519790b5bcf85033ff64ba	Systemic sclerosis is an @DISEASE$ characterized by skin hardening and different internal organ fibrosis, including @PHENOTYPICFEATURE$.	false
+9ac7a2aea1e503ddb6d32b93786a5f3339e978a3	Systemic sclerosis is an @DISEASE$ characterized by immunological and @PHENOTYPICFEATURE$.	false
+ce2d1ff8af574c094a464e4026306a17f99b8a83	Systemic sclerosis (SSc) is an @DISEASE$ characterized by @PHENOTYPICFEATURE$, and cutaneous and visceral fibrosis.	false
+387bce05297426e3b38e0674351e44573ecc8009	Systemic sclerosis (SSc) is an @DISEASE$ characterized by immunological and @PHENOTYPICFEATURE$.	false
+280154741ba2f05dd203e72ea21ef2170841417f	Multiple sclerosis (MS) is an @DISEASE$ causing severe neurological @PHENOTYPICFEATURE$.	false
+3980c8a16568afbebb831be5cfbf4c83e1bee6db	In conclusion, @DISEASE$ is caused by a specific de novo @PHENOTYPICFEATURE$ in P4HB that impairs the disulfide isomerase activity of PDI.	false
+f6f69447e28e625b345b3d65eadf624616f71c8a	Regarding a limb with @DISEASE$, fibular dimelia and mirror @PHENOTYPICFEATURE$.	false
+2cd38e8f3c6909cd05c2b2ea5cb4daab7fc1cac8	A caucasian boy with distinct oriental-like facies, short stature, @PHENOTYPICFEATURE$, congenital @DISEASE$, glaucoma, and speech disorder is reported.	false
+a406a6a1dcb86f664b0687734a04cfbb39da2acd	Growth retardation, distinct oriental-like facies, glaucoma, @PHENOTYPICFEATURE$, @DISEASE$ and speech disorder.	false
+56e8ed3c44e9ccaec32f7293038bd169caa0904a	The patient presented with microcephaly, velopharyngeal insufficiency, dysmorphism, @PHENOTYPICFEATURE$ and a muscular @DISEASE$.	false
+20f6cc4369fd94144330865610034ec8609661b2	The main clinical features of the patient included severe mental retardation, postnatal @PHENOTYPICFEATURE$, ventricular septal defect (@DISEASE$), and craniofacial anomalies including cleft palate, frontal bossing, hypertelorism, and a broad nasal bridge.	false
+e5c1338eb5e25c1b95fa89545691ebd7032272e0	The main clinical features of the patient included @PHENOTYPICFEATURE$, postnatal developmental delay, ventricular septal defect (@DISEASE$), and craniofacial anomalies including cleft palate, frontal bossing, hypertelorism, and a broad nasal bridge.	false
+0d6dd5122e1fa76bec54bc570b92cb6fee3ecdf7	The main clinical features of the patient included @PHENOTYPICFEATURE$, postnatal developmental delay, @DISEASE$ (VSD), and craniofacial anomalies including cleft palate, frontal bossing, hypertelorism, and a broad nasal bridge.	false
+1166bebdcda90aff94b8cf53873673226976df1d	The main clinical features of the patient included severe mental retardation, postnatal @PHENOTYPICFEATURE$, @DISEASE$ (VSD), and craniofacial anomalies including cleft palate, frontal bossing, hypertelorism, and a broad nasal bridge.	false
+97a1c06c4704c18cf15152ae5f070ae88368ecda	A case with pulmonary atresia/@DISEASE$ associated with port-wine stain and retinal @PHENOTYPICFEATURE$ is reported.	false
+01c6a81a818986829155faa56b738985438dbcbd	Response to Devriendt et al. "Pulmonary atresia/@DISEASE$ associated with facial port-wine stain and retinal @PHENOTYPICFEATURE$".	false
+0cccc543181d4bf36f5841f51137427afb67ca1b	Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac @DISEASE$ (VSD) and @PHENOTYPICFEATURE$.	false
+572bd3bf2ae19498902aa675a079a4be9d100125	Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+56f5388569f7fb9cb4709c6bf60ca1f0aa2bc75d	Ultrasound scan and echocardiography detected @PHENOTYPICFEATURE$ and @DISEASE$, ASD, PDA and cardiomegaly.	false
+1ff5cf72a9091c3d9285e93993f5ea5a83435537	The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (@DISEASE$), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular @PHENOTYPICFEATURE$, dorsally flexed big toes, and developmental delay.	false
+033064cc1cdc96588f8fd237bc3cafabd309a59f	The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (@DISEASE$), mild brachytelephalangy, mild @PHENOTYPICFEATURE$, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay.	false
+706a2a5b7f9a7db056130643f04465169574437c	Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (@DISEASE$), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and @PHENOTYPICFEATURE$.	false
+251841f62ce659ccf1596114e5e010dad91923c9	Abnormal findings included @PHENOTYPICFEATURE$, a ventricular septal defect (@DISEASE$), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation.	false
+acda7eef5e3a9ef6050b8b120294b7dde556cbf3	Aberrant regulation of clock timing is linked to numerous human conditions, including cancer, cardiovascular disease, @PHENOTYPICFEATURE$, various neurological disorders and the hereditary disorder @DISEASE$.	false
+c228f874e1a39f9bc29d402d9316ac81bb9433c6	Medullated nerve fibers (3 cases), pseudo disc @PHENOTYPICFEATURE$ (2 cases), and other retinal changes including @DISEASE$ like chorioretinal degeneration (3 cases) were also found.	false
+9d002344eb2fed8f12f64bd59278ea8d5d86f884	We are reporting a rare case of Complete Pentalogy of Cantrell (CPOC) with @DISEASE$ and other associated anomalies such as encephalocoele, craniofacial defects, limb defects and a flexion deformity, with @PHENOTYPICFEATURE$ in right lower limb.	false
+6b166425152487bbf3de5d80282d4e7c087ef5b1	Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel (AA/RRS) @DISEASE$ syndrome are rare autosomal recessive inherited disorders characterized by aplastic/@PHENOTYPICFEATURE$ with ectopic dorsal palms, absence of humeri, hypoplastic ulnae, and bowed short radii with the elbow joints present, shown to result from missense mutations in WNT7A (p.Ala109Thr and p.Arg292Cys).	false
+f241233e26269599d17d116b652e6f462bd6ed08	Consideration should be given to such post-operative complications when treating @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+cae3e2d95839163fda7a7b3e37c80a407a6378ed	Hyperferritinemia-cataract syndrome (@DISEASE$) is a rare Mendelian condition characterized by bilateral @PHENOTYPICFEATURE$ and high levels of serum ferritin in the absence of iron overload.	false
+e3f76e48264b6158ed28aa472d0aee4d0efc5bb0	Hyperferritinemia-@PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a rare Mendelian condition characterized by bilateral cataract and high levels of serum ferritin in the absence of iron overload.	false
+3e24dc4840e0f2caacc650711a4a2aafe6116595	We report a case of a 50-year-old female with bilateral @PHENOTYPICFEATURE$ as a manifestation of the rare genetic disorder @DISEASE$.	false
+bbbe3e7a9e14ac3007efa658f16ad0e9350681fb	To examine the cytotoxic effect of pilocarpine, an anti-@PHENOTYPICFEATURE$ drug, on human corneal stromal (@DISEASE$) cells and its underlying cytotoxic mechanisms using an in vitro model of non-transfected HCS cells.	false
+d6c03f80954064e3fd7240364f9bcd4220b87c47	An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters: @DISEASE$ (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachycephaly, hirsutism and @PHENOTYPICFEATURE$.	false
+557e67de486eca0b23d919ebae370a42abbbc622	An analysis of seven infants with @DISEASE$, of whom two identical twin sisters: Brachmann-de Lange syndrome (BDLS) is characterized by typical facial features, intrauterine growth retardation, short stature, microbrachycephaly, hirsutism and @PHENOTYPICFEATURE$.	false
+cd0a8704525b2372089c266f0ce3cc4446885f46	@DISEASE$ (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and @PHENOTYPICFEATURE$.	false
+96f6543d50f2fad1ea4f4297aa7f672817c2c6b6	Cornelia de Lange syndrome (CdLS; or @DISEASE$) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and @PHENOTYPICFEATURE$.	false
+0357a9d79555f970a9b1be9fea63a05a6d75f56b	@DISEASE$ is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and @PHENOTYPICFEATURE$ and a typical face.	false
+a17f5cdf8c89c976ffecf66519022a9c4fd45b85	Fetal diaphragmatic hernia and upper @PHENOTYPICFEATURE$ suggest @DISEASE$.	false
+9b0d16a72175cc9814816b295c70a5619fb30516	@DISEASE$ (CDLS) is characterized by mental retardation, growth retardation, @PHENOTYPICFEATURE$, and a characteristic facies.	false
+9d4c8ad1176c962853f4beee0338b4793c22c03f	@DISEASE$ (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, @PHENOTYPICFEATURE$, and growth and cognitive deficits.	false
+49b41750140ca67b81f11a462e378333d4416701	@DISEASE$ is a genetic condition characterized by a very distinctive facial appearance, hirsutism, @PHENOTYPICFEATURE$, growth retardation and developmental delay.	false
+845d4092009919353d1e07862039d0b497a2b590	We describe two independent cases of @DISEASE$ (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper @PHENOTYPICFEATURE$.	false
+5aa4dd07584755ee9efd88e7a41cafdde79cd57f	Twenty-three cases of @DISEASE$ (BDLS) have been reported in literature here in Taiwan, but none of them had severe upper @PHENOTYPICFEATURE$.	false
+954219e39847612c9d84b3b583c390fa7c73e62e	@DISEASE$ is a pleiotropic developmental syndrome characterized by growth and cognitive impairment, facial dysmorphic features, @PHENOTYPICFEATURE$, and other malformations.	false
+c468da8f27649715e92bb5f8d328590f34ac1c9a	Letter: Zinc deficiency and cellular immune deficiency in @DISEASE$ in man and zinc deficiency with @PHENOTYPICFEATURE$ in fresian calves: a possible genetic link.	false
+1df5d6f18d67247133c29819d01da7f228a3dd66	Lhermitte-Duclos disease (LDD; @DISEASE$) is a rare @PHENOTYPICFEATURE$ of the cerebellum.	false
+e1b05a067b9133cd076702258ed5bce200b81800	@DISEASE$ (LDD; dysplastic gangliocytoma of the cerebellum) is a rare @PHENOTYPICFEATURE$ of the cerebellum.	false
+5722d7a84448fd09121ae365e508b4f43dbfb70b	@DISEASE$ was recently encountered to be part of a multiple @PHENOTYPICFEATURE$-neoplasia complex (Cowden's syndrome).	false
+7d2194781b010d7fbb5dedcf92a039aa7b96198e	Adult-onset Lhermitte-Duclos disease (LD), or @DISEASE$, is a @PHENOTYPICFEATURE$ considered pathognomonic for Cowden disease.	false
+9ffa30518320145c3f229d82cd9f10a71490b2b9	Adult-onset @DISEASE$ (LD), or dysplastic cerebellar gangliocytoma, is a @PHENOTYPICFEATURE$ considered pathognomonic for Cowden disease.	false
+c2531759b291a19ef06bc5f46549e94268ae2ac4	@DISEASE$ (LDD) is a rare cerebellar lesion that has long been controversial as to whether the entity is a @PHENOTYPICFEATURE$, a malformation, or a neoplasm.	false
+797ad70f4c4f270d359ef1314d5decdbb8a099bf	Lhermitte-Duclos Disease (@DISEASE$) is a rare cerebellar lesion that has long been controversial as to whether the entity is a @PHENOTYPICFEATURE$, a malformation, or a neoplasm.	false
+05e1a6e2c4c60bd422525d42d1b7d73c28c5dd3c	These findings suggest that lesions of @DISEASE$ may constitute @PHENOTYPICFEATURE$ or hypertrophy rather than neoplasm.	false
+a760f06ef9a5bcb35cb07db34fccc613321c2597	The authors report a case of Lhermitte-Duclos disease, or @DISEASE$, in which a cutaneous sclerotic fibroma was found incidentally during the second resection of a recurrent cerebellar @PHENOTYPICFEATURE$.	false
+de6dbf5ca4de7ad6ecc40678d567e081ec727ecc	The authors report a case of @DISEASE$, or dysplastic cerebellar gangliocytoma, in which a cutaneous sclerotic fibroma was found incidentally during the second resection of a recurrent cerebellar @PHENOTYPICFEATURE$.	false
+5722d7a84448fd09121ae365e508b4f43dbfb70b	@DISEASE$ was recently encountered to be part of a multiple @PHENOTYPICFEATURE$-neoplasia complex (Cowden's syndrome).	false
+61d0d2e00769c221cff7e6e3ae2b259e5713856e	Lhermitte-Duclos disease (@DISEASE$): a malformation, @PHENOTYPICFEATURE$ or neoplasm?	false
+8bec35432d85afb9ad72fd3b28f7122dd0b72703	@DISEASE$ (dysplastic cerebellar gangliocytoma): a malformation, @PHENOTYPICFEATURE$ or neoplasm?	false
+68edebf678b570fc2328dac06951a85ba2df8fe6	@DISEASE$ (LDD), or dysplastic gangliocytoma of the cerebellum, is an unusual @PHENOTYPICFEATURE$ overgrowth disorder.	false
+3d3094d2723ddfe4652ccab66ce90deccf2ec775	Lhermitte-Duclos disease (@DISEASE$), or dysplastic gangliocytoma of the cerebellum, is an unusual @PHENOTYPICFEATURE$ overgrowth disorder.	false
+e24316553812e8ccd0f6f72a63a743ccd3ae63d1	Lhermitte-Duclos disease (LDD), or @DISEASE$, is an unusual @PHENOTYPICFEATURE$ overgrowth disorder.	false
+fa928a725a2d66d4d9532aab17cc6777abef26dc	@DISEASE$ (LDD) is a peculiar proliferation of abnormal neuronal elements of the cerebellum that has features of a @PHENOTYPICFEATURE$ and of a neoplasm.	false
+6c89be4ac4ed48ebff1bfb4c20b0db4e40358191	Lhermitte-Duclos disease (@DISEASE$) is a peculiar proliferation of abnormal neuronal elements of the cerebellum that has features of a @PHENOTYPICFEATURE$ and of a neoplasm.	false
+f632f10d3741a5c5f45525fb4b2a436e5dfad67d	Although it is not a primary cause of retinal @PHENOTYPICFEATURE$ in humans, we show that an allele of AHI1 is associated with a more than sevenfold increase in relative risk of retinal degeneration within a cohort of individuals with the hereditary kidney disease @DISEASE$.	false
+a80ff8ec1761a7571a17119aab1e7f3d9098f547	The protein nephrocystin-4 (NPHP4) is widespread in ciliated organisms, and defects in NPHP4 cause @DISEASE$ and @PHENOTYPICFEATURE$ in humans.	false
+f6688074ac44d730c58c3c652d6c171da9c256a0	The patient initially had acneform lesions, @PHENOTYPICFEATURE$, hypothyroidism, and @DISEASE$.	false
+78829c020f51dafcede19e14dd9d1cad0b482233	Identification of the molecular defect underlying congenital @DISEASE$ is of immediate clinical significance because early diagnosis and treatment of affected infants can avert the physical and mental retardation associated with episodes of @PHENOTYPICFEATURE$.	false
+be1d12a6ec65700f8a6aa4a7d775cc8cb147039f	Last, as a conclusion, we highlight the possibility of performing routinely genetic diagnosis of most hereditary tubular diseases (Bartter/Gitelman syndrome, @DISEASE$, distal tubular @PHENOTYPICFEATURE$, and Lowe and Dent syndromes).	false
+2456a6286f36b731636dc516725a24f7112cb1d6	These data show that meticillin-induced interstitial nephritis may be responsible for distal tubular abnormalities, namely @DISEASE$ and distal tubular @PHENOTYPICFEATURE$, which may persist long after the onset of the nephropathy.	false
+8763881b38a3115e4a3e747b33e4dbe7aaa47cd5	A number of toxic side effects have been reported, among which the most common ones are @DISEASE$, distal tubular @PHENOTYPICFEATURE$, and impairment of renal concentrating ability.	false
+a62ceb6331ac30e943223d365a38cbb68dd46753	Renal tubular disorders may affect multiple ( e.g., Fanconi syndrome) or specific (e.g., @DISEASE$, renal @PHENOTYPICFEATURE$) tubular functions.	false
+884afb9e32cda604b594f8bcf1d236937f547eaf	Lithium (Li) may cause multiple endocrinopathies, including @PHENOTYPICFEATURE$, thyroid dysfunction and @DISEASE$ (NDI), but rarely in the same patient.	false
+6e77ed027404469c94949441c4847ac180bc6d1e	Cosegregation of the variations with @DISEASE$ was demonstrated for two families, and a de novo @PHENOTYPICFEATURE$ was documented in two additional cases.	false
+e08cacc592e3f773e7a57aa50499fe30b423c547	A novel SLC12A1 gene mutation associated with hyperparathyroidism, @PHENOTYPICFEATURE$, @DISEASE$, and nephrocalcinosis in four patients.	false
+1d2159745b192bc89f97e686df863610fa1d6d96	We encourage physicians who follow families with hereditary @DISEASE$ to recommend molecular genetic analysis because early diagnosis and treatment of infants can avert the physical and mental retardation associated with episodes of @PHENOTYPICFEATURE$.	false
+681f6684e3b97d3824f90bf35cbedf7d724a7b86	@DISEASE$ (HC) is a rare @PHENOTYPICFEATURE$.	false
+24c837378e17c2bb27d09adb72e3402ebe7e8d89	@DISEASE$ is a rare @PHENOTYPICFEATURE$ with a poor prognosis.	false
+dbc2c23fa83c922b77707e0492d9303dc6122d20	@DISEASE$: pathology and @PHENOTYPICFEATURE$ biology.	false
+a931dc2305d49d20cc3645bd936fd2a13858649d	@DISEASE$: @PHENOTYPICFEATURE$ depth as a predictor of outcome.	false
+2415d210e464a2febc9664acac7a1f0128235522	Surgical resection with a @PHENOTYPICFEATURE$-free margin is the only curative treatment for hilar cholangiocarcinoma (@DISEASE$).	false
+c3ddc01240373446acac30ba5b3053c6f0eaac27	Surgical resection with a @PHENOTYPICFEATURE$-free margin is the only curative treatment for @DISEASE$ (Klatskin tumor).	false
+6f06f18152b9fc1f9122fc9ec8f5ffef435f68d4	The ultrasonographic appearances of @DISEASE$ (Klatskin @PHENOTYPICFEATURE$).	false
+38e097705d1a0a59cda5e17ca460ec3d91761207	Inflammatory myofibroblastic @PHENOTYPICFEATURE$ of liver masquerading as @DISEASE$.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+0c30e7f88e0f9580eaefa863d8d46883a4bda3e4	Eponymously, the @PHENOTYPICFEATURE$ was named after him-@DISEASE$.	false
+54e64383958f02bfa768ddb55d42fdd815f9512b	@DISEASE$ are also called Klatskin @PHENOTYPICFEATURE$.	false
+205cf12347757971685158d3a12d8a29566b37e4	The @DISEASE$ mutated-Rad3 related (ATR)-Chk1 pathway is defective in Seckel syndrome, another @PHENOTYPICFEATURE$ disorder.	false
+a8f1f9f4f19bec74e77807e604852acf45d0b00d	Ten of 18 children in a highly inbred Arab kindred suffered from either @DISEASE$ (AT) or a variant syndrome consisting of ataxia, @PHENOTYPICFEATURE$, and congenital cataract (AMC).	false
+b55417c568641f3318f41914e5f2fc77255384f8	Clinically, this novel syndrome featured @DISEASE$, elevated alphafetoprotein, immunodeficiency, @PHENOTYPICFEATURE$ and pulmonary failure and has implications for the differential diagnosis of autosomal recessive ataxias.	false
+12d2faafd0a6e177d6223207e3083425b920332f	Additionally, mutations in the MRE11A gene are known to lead to an ataxia-telangiectasia-like disorder (ATLD), a late-onset, slowly progressive variant of @DISEASE$ without @PHENOTYPICFEATURE$.	false
+a3adb949094efd799862ede5c4382ecd629f2673	Important insights into human neurogenesis are being revealed by the study of rare genetic diseases that involve primary microcephaly, illustrated by the identification of the Microcephalin, abnormal spindle in @PHENOTYPICFEATURE$ and @DISEASE$ and Rad3-related genes.	false
+cf0942f1d772d283fe683fa43dbb96da0393ffe4	Important insights into human neurogenesis are being revealed by the study of rare genetic diseases that involve primary @PHENOTYPICFEATURE$, illustrated by the identification of the Microcephalin, abnormal spindle in microcephaly and @DISEASE$ and Rad3-related genes.	false
+07bf7dc75e05cfad429dc411b6e14cae5fcae6f3	Nijmegen breakage syndrome (NBS), also known as @DISEASE$ (AT) variant, is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, growth retardation, severe combined immunodeficiency and a high incidence of lymphoid cancers.	false
+fdeb649eb742c97343886a560ebc68d5d25523d8	Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as @DISEASE$ (AT) variants V1 and V2, is characterised by @PHENOTYPICFEATURE$, typical facies, short stature, immunodeficiency, and chromosomal instability.	false
+32f042d80da4b951720240707f900d23732effbc	We report on a Mexican boy with @PHENOTYPICFEATURE$, short stature, and a high frequency of chromosome aberrations with rearrangements involving chromosomes 7 and 14, typical of @DISEASE$ (AT) patients.	false
+04a0059d89593a99907df28b8f590ba0882453ea	Nijmegen breakage syndrome (NBS), @DISEASE$ and ataxia telangiectasia-like disorder (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+8037e642b8fecd97b64ed14ae8646cb6401446c4	@DISEASE$ and Rad3-related (ATR) protein, a kinase that regulates a DNA damage-response pathway, is mutated in ATR-Seckel syndrome (ATR-SS), a disorder characterized by severe @PHENOTYPICFEATURE$ and growth delay.	false
+b5eaec86af1e07266e404e01615b1774b0e20690	We report the case of an 11-month old girl presenting with @PHENOTYPICFEATURE$, dystonia, and lactic acidosis, concerning for a mitochondrial disorder, but atypical for @DISEASE$.	false
+6d12d383d6216474e37ed240dea6427da91b5f07	This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the @DISEASE$3q phenotype and severe eye and @PHENOTYPICFEATURE$.	false
+eb9544f8c7ecfa62e8b53c750b980992d62cb921	(@DISEASE$15q syndrome or Dup15q) cause @PHENOTYPICFEATURE$, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features.	false
+83535a4c9dd79f8706371849c8639b06f83a09d0	Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, @DISEASE$, Phelan-McDermid syndrome, @PHENOTYPICFEATURE$ tumor syndrome, Prader-Willi and Angelman syndromes, and a few others.	false
+24273f594cbc14f83a0edaabc819031be88c12cb	Cardio-facio-cutaneous (@DISEASE$) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and @PHENOTYPICFEATURE$, and congenital heart defects caused by activating mutations of BRAF, MEK1, MEK2, and KRAS.	false
+7970fdbc5972f67ee0f40510adb85be2a1242e64	(Cardiofaciocutaneous @DISEASE$ is characterized by distinctive craniofacial features, congenital heart defects, and @PHENOTYPICFEATURE$ and hair.	false
+25d0e2386153f1384541277e959cd8f9336ff55a	Children born with germ-line mutations in BRAF, MEK1 or MEK2 develop cardio-facio-cutaneous (@DISEASE$) syndrome, an autosomal dominant syndrome characterized by a distinctive facial appearance, heart defects, skin and @PHENOTYPICFEATURE$ and mental retardation.	false
+21c41ee46cd8202f789e5eef324ab585687d4e2c	In addition to the ichthyotic eruptions and @PHENOTYPICFEATURE$, he also had a ventricular septal defect, mental retardation, growth retardation, characteristic facial features such as a depressed nasal bridge, low-set ears, and ocular hypertelorism; therefore, he was diagnosed with cardio-facio-cutaneous (@DISEASE$) syndrome.	false
+b67dea7600757de5b7b8249766e5dfefdf433239	We report on a 22-month-old boy with @DISEASE$ presenting with typical craniofacial appearance, heart defects, ectodermal @PHENOTYPICFEATURE$ failure and developmental delay.	false
+af3f6fe0dac19797d95c7352048aaf8173536c7f	@PHENOTYPICFEATURE$ is a new abnormality associated with @DISEASE$, suggesting that CCA is clinically heterogeneous.	false
+08a541cd5828f9118f32074d275ab2d326c3f4dd	Shprintzen-Goldberg syndrome (@DISEASE$) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical @PHENOTYPICFEATURE$, and craniosynostosis.	false
+c0c07d77798088c9b48d6efbea2896171dc6d4e1	The Shprintzen-Goldberg syndrome (@DISEASE$) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic @PHENOTYPICFEATURE$, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation.	false
+dfebe65aa2ab7963ad9cf6d197f94c98e8de82e2	Clinical physicians should improve their ability to recognize such rare diseases, and @DISEASE$ should be considered for children with @PHENOTYPICFEATURE$, delayed development, and multiple malformations.	false
+d830b9ad4679a070eb3152c1ffd8840dff89746e	@DISEASE$ is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, @PHENOTYPICFEATURE$, genitourinary, skeletal, neurological, and cardiac defects.	false
+a1e83c5980bd28d33c085d82bdeae910f896d7c1	Schinzel-Giedion syndrome (@DISEASE$) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several @PHENOTYPICFEATURE$, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly.	false
+17f744532797071f9d43bfdf8c56dd8a7c3b0ec4	@DISEASE$ (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several @PHENOTYPICFEATURE$, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly.	false
+3dbde1463ef3336b9e5455e8394140989755b3fb	@DISEASE$ is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, @PHENOTYPICFEATURE$, and multiple congenital malformations.	false
+acb976011f8809053e7e612fe6f4c8a9b94bafaa	Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the @PHENOTYPICFEATURE$ have not been reported in patients with @DISEASE$.	false
+d6092423fcb8a38a11f371d727c5f57b2a1f02f5	Although a few rare cases in which the @DISEASE$-like @PHENOTYPICFEATURE$ occurred outside the digit or in adulthood, all these cases were in the category of fibromatosis or fibroma.	false
+858f5ca8ea697eb3780677dcb3b427e8d2fab702	@DISEASE$-like @PHENOTYPICFEATURE$ (inclusion body fibromatosis) of adulthood: report of two cases with ultrastructural and immunocytochemical findings.	false
+327b4ffde6974b08da3ce1e9562f3da5e88485ba	@DISEASE$-like @PHENOTYPICFEATURE$ of adult.	false
+a86154e7fdbfb57c7533970dd792d7b464093fbb	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; @DISEASE$ syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.	false
+30e5733e7a0d51a7624ccdc7ec05047f65ce8af9	Patients with congenital unilateral @PHENOTYPICFEATURE$ (UCHL) can either be watchful monitored or treated surgically through the fitting of a percutaneous bone conduction device (@DISEASE$) or, in some cases, atresia repair.	false
+0fb95c7729f0a8619b3bc295d54bd8fe4cfd2c6b	The level of @PHENOTYPICFEATURE$ in @DISEASE$ is related to the severity of retinal thinning.	false
+e22e8bf899ee1c15b21e3868307fded23c16cc12	Bietti's crystalline dystrophy (@DISEASE$) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by deposition of crystals in the retina.	false
+c09576d186033fb9f0f4eb4f36230a0e6dac295d	@DISEASE$ (BCD) is a rare autosomal recessive @PHENOTYPICFEATURE$ characterized by deposition of crystals in the retina.	false
+5613f323ff94b811c5e2dd001539b487739fbc4a	Diverse forms of bone conduction devices (@DISEASE$; percutaneous or transcutaneous) provide successful and well-established therapies for @PHENOTYPICFEATURE$ (CHL).	false
+2b153305935ef75386050ee2e0d7cb7f7f507b62	Bietti crystalline corneoretinal dystrophy (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field.	false
+26fbdd05cc0dfe7f307129334db79b68588884eb	@DISEASE$ (BCD) is an autosomal recessive @PHENOTYPICFEATURE$ characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field.	false
+3e86d52b8b4a2069c5ef08b5a4612e4dbde84f5e	Assessments of binaural hearing were made in patients with acquired unilateral @PHENOTYPICFEATURE$ (UCHL, n = 11) or congenital UCHL (n = 10) after unilateral application of a bone conduction device (BCD), and in patients with bilateral conductive or mixed hearing loss after bilateral @DISEASE$ application.	false
+5c711607a2827d78fb1b6b333c01743279fdafe2	Assessments of binaural hearing were made in patients with acquired unilateral @PHENOTYPICFEATURE$ (UCHL, n = 11) or congenital UCHL (n = 10) after unilateral application of a bone conduction device (@DISEASE$), and in patients with bilateral conductive or mixed hearing loss after bilateral BCD application.	false
+d20bc4f7d5843890cc82aff1cbe11e5502b1f7c9	Monogenic syndromes were identified in 6% (12/204) of CL?P cases: Van der Woude syndrome (2 cases); @DISEASE$ (2 cases); @PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case).	false
+d87a4d68c05a8c61e3d0388ed61368564477a01c	This boy was known to have @DISEASE$ with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and @PHENOTYPICFEATURE$.	false
+7d24516a18dd2203fd67a78533cb9ebae6b3b3a1	We report five new patients with Turner syndrome and a co-occurring genetic disorder including one patient with @DISEASE$, Li-Fraumeni and Noonan syndrome, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis-@PHENOTYPICFEATURE$-epicanthanus inversus syndrome.	false
+0e1300edc9013d0036a1fc2018d89a49b27ead6d	@DISEASE$: a new form of lethal neonatal @PHENOTYPICFEATURE$.	false
+9595d811d6f7d7840acf8a8246e620cbfe0b8e1a	The occurrence of @PHENOTYPICFEATURE$ among @DISEASE$ patients is not frequent and easily overlooked.	false
+7e82048a88891093a3f6550870a5013c368f46d0	Stevens-Johnson syndrome (@DISEASE$) and toxic epidermal necrolysis (TEN) are @PHENOTYPICFEATURE$ skin lesions with blister formation accompanied by mucosal involvement.	false
+4a1ac4d84e2dc382d5d4ab195abeb556fa202f91	Severe bullous skin reactions nowadays are classified into erythema exsudativum multiforme majus (EEMM), Stevens-Johnson syndrome (@DISEASE$), overlap Stevens-Johnson syndrome-toxic epidermal necrolysis (SJS/TEN), TEN with maculae and TEN on large @PHENOTYPICFEATURE$, and they are most often caused by antibiotics and anticonvulsant drugs.	false
+19e07d25345d0238c424e480ef6a17e81b3eb7a2	On day 10, a high fever of 39.3 ?C and a diffuse, @PHENOTYPICFEATURE$, pruritic full-body rash involving the palms of her hands and the soles of her feet developed, and she was diagnosed with Stevens-Johnson syndrome (@DISEASE$).	false
+e44e2b8d33f49a6d0fab62c006c396ef3e1333b6	One day after admission clinical examination revealed the classical features of Stevens-Johnson syndrome (@DISEASE$): widespread confluent atypical target lesions, partly raised, partly flat with central blisters, and @PHENOTYPICFEATURE$ spots, but few typical targets, as well as blisters and large areas of skin detachment on her back and buttocks, accompanied by erosions of the oral and genital mucosa.	false
+c91a9a941107c955e469209a0b799872f1d28624	This study aimed to determine the prognostic value of circulating autoantibodies levels in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+bb35fa1103c74549fef696db50a18bea3ba3af38	Erythema multiforme majus (EMM) and Stevens-Johnson syndrome (@DISEASE$)/toxic epidermal necrolysis (TEN) are severe cutaneous reactions characterised by targetoid @PHENOTYPICFEATURE$ lesions and mucocutaneous involvement.	false
+05b346d0b8801a0913bdc0ac3ef0a1bc7077afa4	@DISEASE$-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in the SPG3A gene, and is characterized by progressive motor weakness and spasticity in the lower limbs, without any other @PHENOTYPICFEATURE$.	false
+9ae70139401c361fb4d3e7194efc0de7c482fd53	In most of these patients the etiology of the disorder was known, and the symptoms could be related to a localised lesion of the central cortex; 2) the second group (11 patients) presented with completely different characteristics: early onset of fits (age: 2 to 10 years), presence of other seizure types, short delay of onset of myoclonic jerks, high frequency of seizures, localization of myoclonus over large parts of the body, progressive evolution of a @DISEASE$, associated neurological signs and disorders of sleep and behavior, @PHENOTYPICFEATURE$, characteristic E.E.G. pattern with long subclinical paroxysms of slow spikes (sharp waves) with variable localization, diffuse cerebral lesions of unknown etiology were found.	false
+c1e91fce94c72f8aca82ddbbbacf4304b4f14187	interval is a focus of interest as a number of hereditary disease loci have been mapped to this region, including X-linked nonsyndromic sensorineural deafness (DFN6), @DISEASE$ (RS), and several X-linked @PHENOTYPICFEATURE$ syndromes.	false
+7b4b4af0d5a71373f80dc3ec8c71415613f844ca	Early onset @DISEASE$ is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, @PHENOTYPICFEATURE$ and haemorrhages.	false
+aabd04f723286c1e00949bf0e302729ff3065dfa	deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and @DISEASE$, @PHENOTYPICFEATURE$, cardiac malformations and psychiatric symptoms.	false
+67a73cd1a9f6b2e468eb4e676d65fd0eba0afdf1	The primary aim of this study was to investigate whether the previously reported subjective @PHENOTYPICFEATURE$ in @DISEASE$ are confirmed by objective measures.	false
+59c63449267b6841185501b8985c6880e2e615b1	Polymyositis/dermatomyositis, @PHENOTYPICFEATURE$ and @DISEASE$, three conditions regulated by the HLA-B8-DR3 haplotype, were most strongly associated with MG, especially early-onset disease.	false
+e34d385a3a8d5ab1dc139b46b5c272547fd6a23d	idiopathic thrombocytopenic purpura (ITP), Crohn's disease, @PHENOTYPICFEATURE$, dermatomyositis, scleroderma, @DISEASE$ and hyperemesis gravidarum, HELLP syndrome.	false
+49b63b6eecbbfef711c9ea7d41be84f547273070	Adrenomyeloneuropathy is a syndrome comprising spastic paraparesis, polyneuropathy, @DISEASE$ and variable @PHENOTYPICFEATURE$.	false
+715ca5286e0d432f78e9a6e1c45ab5ac8b9cf37c	Of the endocrine diseases, hypoparathyroidism form an important component followed by @DISEASE$, type 1A diabetes, @PHENOTYPICFEATURE$ and thyroid disease.	false
+50f20f9c87087a189c4e9a30b6936e3704018e86	Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, @PHENOTYPICFEATURE$, @DISEASE$, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura.	false
+c1ee07e4d499804d1135c9da4002f2784533b655	CLEC16A variation has been associated with multiple immune-mediated diseases, including type 1 diabetes, multiple sclerosis, @PHENOTYPICFEATURE$, celiac disease, Crohn's disease, @DISEASE$, primary biliary cirrhosis, rheumatoid arthritis, juvenile idiopathic arthritis, and alopecia areata.	false
+4a0fa594c9ca2d70a7b582aff4e02fb8fa5771da	@PHENOTYPICFEATURE$ and vomiting are frequently present in untreated @DISEASE$.	false
+58a8f7222d84e0cf3d365931a3aee42cf4296d77	The second patient, a 16 year old boy, suffered also from @DISEASE$ since the age of 9, and developed @PHENOTYPICFEATURE$ in the course of one year.	false
+0d1938a319b5ed9478b228dda5b889030666b608	She had a history of mineralocorticoid deficiency (@DISEASE$), hypoparathyroidism, @PHENOTYPICFEATURE$ and Biermer's disease, and she had also had chronic mucocutaneous candidiasis since childhood.	false
+c7a3c66f15b8e1179a660baf128d67922fcffd36	These individuals shared a similar phenotype including profound development delay, early-onset refractory epilepsy, progressive @DISEASE$ and @PHENOTYPICFEATURE$, and brain malformations.	false
+ffda4bfa5c95e328756bbd81fb57358f21f746e1	Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, @DISEASE$ with profound @PHENOTYPICFEATURE$, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness and optic nerve atrophy with no eye fixation.	false
+bd71524b75dd1d4ebc9835c0c5ac83e777761de7	Of particular interest were two families with an autosomal recessive condition of post-natal microcephaly, @PHENOTYPICFEATURE$ epilepsy and @DISEASE$; and one family, and possibly a sporadic case of X-linked athetoid cerebral palsy.	false
+4d43e54ba6fca342ba21a4c6a772acb8710d42f9	He was never able to move without assistance because of severe @DISEASE$ with distal dominant @PHENOTYPICFEATURE$.	false
+83ad597db11143bf7cd045ec65c3ea73d58dca7e	profound mental retardation, @DISEASE$, ponto-@PHENOTYPICFEATURE$ and progressive cerebral atrophy); (ii) optic nerve atrophy and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	false
+5adb111bf0efeee789fe7db168b563d04c18f3f0	They rapidly became demented, developed @PHENOTYPICFEATURE$ or tonic-clonic seizures, @DISEASE$, deafness and blindness, and died.	false
+97063658d7572ebb40c7ba489cabe11c39bcc971	The purpose of this study was to determine the effect of PROM exercises on 6 adults with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f7448dd1f1fadce966cb8c8a24b64bbe14934acc	In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, @PHENOTYPICFEATURE$, connective tissue abnormality, mental retardation, and @DISEASE$.	false
+d746f7be5c1fe1f2b019d070f316f05bdfef38f4	Fifty-five patients with "AD and mild @PHENOTYPICFEATURE$ (MCI)" (n?=?40) and "non-AD" (n?=?15) were evaluated with 18F-FDG PET and (99m)Tc-ethyl cysteinate dimer (@DISEASE$) SPECT during an 8-week period.	false
+1ce2821a97d8fd43c870bc43f8bda6573a55d466	We report a case of @DISEASE$ presenting within the right breast as a clinically malignant tumor, in addition to bilateral sclerotic lesions of the femurs, bilateral soft tissue masses of the cerebellum, and multiple @PHENOTYPICFEATURE$ on the abdominal wall in a 61-year-old woman.	false
+3b6e1148d746fdca6cab803db1ae4b31cb84cea2	@DISEASE$ as a sign of laterality defect in Ellis-van Creveld and @PHENOTYPICFEATURE$ syndromes with ciliary and Hedgehog signaling dysfunction.	false
+7781ffa6488eae61f73a25f523a4d303cfb40151	@DISEASE$ in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and @PHENOTYPICFEATURE$ syndromes with ciliary dysfunction536.	false
+bbb083a1844c72d37cb5239e2ae47e69ee54a3f5	21 patients (54 +/- 7 years old) with early cognitive deficit (@DISEASE$) during the presenile stage of presumptive primary degenerative dementia (mild stage) and 14 patients (54 +/- 4 years old) with early @PHENOTYPICFEATURE$ with a background of cardiovascular disease (CVD) were examined in a labyrinth learning test of Milner (modified by Roth).	false
+1a92af397fc03c64f4711490bf7b091601e4bdf9	21 patients (54 +/- 7 years old) with early @PHENOTYPICFEATURE$ (@DISEASE$) during the presenile stage of presumptive primary degenerative dementia (mild stage) and 14 patients (54 +/- 4 years old) with early cognitive deficit with a background of cardiovascular disease (CVD) were examined in a labyrinth learning test of Milner (modified by Roth).	false
+d0cb1824725a33fbc1a10f4e5f4b1642775c95b6	Previous observations from a personal series of patients with @DISEASE$ and "@PHENOTYPICFEATURE$ syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling.	false
+155c34e189cef044c971c7949f85732ce3eaf390	Although @PHENOTYPICFEATURE$ lesions were smaller in Kit(V558;T669I/+) mice than in single-mutant mice, both interstitial cell of Cajal hyperplasia and @DISEASE$ were exacerbated in Kit(V558;T669I/+) mice.	false
+e105e2cd8269110b034a21f71ae6a98ea15df83d	Hypereosinophilic syndrome (HES), chronic eosinophilic leukemia (CEL), and @DISEASE$ (MCD) are all considered myeloproliferative @PHENOTYPICFEATURE$, and diagnosis in each instance requires bone marrow examination with cytogenetic and molecular studies.	false
+5c951bfab3fba69d6e99251a368342787ec930e9	Mast cell @PHENOTYPICFEATURE$ are divided into mastocytoma and malignant @DISEASE$.	false
+fe7865ced40b9553ccbb3c125c49e7a25c3963e6	A 47-yr-old man with malignant @DISEASE$, a malignant @PHENOTYPICFEATURE$ of mast cells, presented with anemia.	false
+da1707f459deaec167d2e1482a737453e5767618	This article discusses our understanding of the mutated tyrosine kinome of eosinophilic @PHENOTYPICFEATURE$ and systemic @DISEASE$, and the successes and limitations of available therapies.	false
+9dc89a696537ff51daa3596ee46806a1c2f253da	@DISEASE$ is a common feature around solid @PHENOTYPICFEATURE$.	false
+cc7acee78cdb22a4d1c5bc1c2af41c1cb8ab6a1a	[Papillo-tuberous and familial diffuse cutaneous @PHENOTYPICFEATURE$ @DISEASE$.	false
+79491e374d2840709b36e26f49644c57bb99c079	@DISEASE$ is one of the eight subcategories of the myeloproliferative neoplasms of the classification of lymphoid and hematopoietic tissues' @PHENOTYPICFEATURE$ of 2008 of World Health Organization; it is an heterogeneous group of myeloproliferative diseases characterized by the excessive proliferation of atypical mastocytes in morphological and immunophenotype terms, besides the cumulus of these cells in one or several organs or tissues, including skin, bone marrow, liver, spleen and lymph nodes.	false
+314f638bed69ea9fb70676a033f72cb672e64b09	Dural metastasis from prostatic adenocarcinoma mimicking @DISEASE$: Report of a case with unilateral @PHENOTYPICFEATURE$.	false
+48069bb51564c1936f07d40201a740ef7caf2181	After complete surgical removal of the @DISEASE$, patient's @PHENOTYPICFEATURE$ was completely resolved.	false
+2b1fa65fcfeb167e58f115eee15efa09ab566056	Bilateral @PHENOTYPICFEATURE$ due to a giant olfactory @DISEASE$.	false
+046eb03ffadc70f2e32e4fefcadb0587367b2869	Patients presenting between 1993 and 2004 with @PHENOTYPICFEATURE$ due to sphenoid wing @DISEASE$ were identified.	false
+6447730140c44ca9c12b2f5b1da000e08bbdfcc8	@DISEASE$ causing @PHENOTYPICFEATURE$: outcomes and toxicity after intensity modulated radiation therapy.	false
+0b68a215d81202f8996f40f34a518b47ad033704	The patient had significant recovery of @PHENOTYPICFEATURE$ following excision of the @DISEASE$.	false
+0c2902954c901c74e5626eb0f79e283d9a056792	Postoperative @PHENOTYPICFEATURE$ is a dreaded complication following transcranial excision of tuberculum sella @DISEASE$.	false
+6ed0d0a69462f24d8196b6039eb05ae7ab037d91	Radiologists should have a high suspicion for the diagnosis of optic canal @DISEASE$ in patients with unexplained visual loss, particularly when @PHENOTYPICFEATURE$ is progressive.	false
+9dfa2853b6d293d42905a4f4b45c0a4c79d8e134	Radiologists should have a high suspicion for the diagnosis of optic canal @DISEASE$ in patients with unexplained @PHENOTYPICFEATURE$, particularly when visual loss is progressive.	false
+03affc14c819ed60bbfc486f666247a42b798d26	To review a group of patients with sphenoid wing @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a2ebf3e5361c544f611fb3c8663261947e7606bf	A frontal lobe @DISEASE$ in a child leading to @PHENOTYPICFEATURE$.	false
+dd24f6f6f1e53a91cc399a53d2c1be6dbc159fde	The triad @PHENOTYPICFEATURE$, hypotonia, constipation is a characteristic finding in the @DISEASE$, an X-linked mental retardation syndrome.	false
+6e9b4c265081f7d32bb9031bc87cddc91f6915bb	The triad mental retardation, hypotonia, constipation is a characteristic finding in the @DISEASE$, an X-linked @PHENOTYPICFEATURE$ syndrome.	false
+d2f150c3cbf43a226882c7734b87fb8442d8f6eb	@DISEASE$ is an X-linked recessive @PHENOTYPICFEATURE$ syndrome with ano-rectal anomalies, constipation, and occasional urinary incontinence.	false
+3b3df6cc84d2ac7f22a709fbfe28fa78493f8823	Serial evaluations of a patient with @DISEASE$, whose sole central nervous system anomaly was @PHENOTYPICFEATURE$, showed a consistent pattern over time.	false
+b395bb364ad9ea7c44b6cbdcd5534ae56a191bf3	@DISEASE$ is an X-linked condition comprising @PHENOTYPICFEATURE$, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations.	false
+92851e015d09908da32d8e7edd2915cbc5029967	@DISEASE$ is an X-linked recessive condition in which @PHENOTYPICFEATURE$ is associated with congenital hypotonia, macrocephaly, characteristic face, and constipation.	false
+30f253e21b4636f6133e0e612e6fcc238b8c0df8	The @DISEASE$ is an X-linked recessive @PHENOTYPICFEATURE$ syndrome with congenital hypotonia, relative macrocephaly, a characteristic facies and constipation.	false
+ed95cdc823939c94a3ea50a46f061399e6371028	[@DISEASE$: report of 4 cases with @PHENOTYPICFEATURE$].	false
+f512db8a59ec42074d2e63b2f1e2666eba99fcf2	@DISEASE$ is a rare X-linked recessive form of @PHENOTYPICFEATURE$, first described by Opitz and Kaveggia in 1974.	false
+b0bfc6855bffe22aac19c937ade5be48f6331e99	The @DISEASE$ is an X-linked recessive @PHENOTYPICFEATURE$ syndrome.	false
+f799ea9ab69f6c877c846928176e557c7721ba09	@DISEASE$ (FGS, MIM 305450) is a rare X-linked recessive disorder comprising @PHENOTYPICFEATURE$ and multiple malformations.	false
+d581f478286faac48a9987f449ff44097fc3ef6c	Axial correction of the @PHENOTYPICFEATURE$ in a girl with @DISEASE$.	false
+78237735c6b45503f9282ac92c76b69a01e8b56e	Valgus subtrochanteric osteotomies and hemiepiphyseodesis around the knees have been performed to correct severe @PHENOTYPICFEATURE$ and genua valga in a girl patient who manifested extreme dwarfism associated with spondylometaepiphyseal dysplasia consistent with @DISEASE$.	false
+7720f4c444ae14eda58e7b17b4cbe3e234311035	Focal sclerosis of semicircular canals with severe @DISEASE$ @PHENOTYPICFEATURE$ caused by a P51S COCH-mutation: is there a link?	false
+97de7aa310ac36f806b6d334071fa2ea419b1384	Histochemical analyses revealed co-deposits of Cochlin and mucopolysaccharide in human TM around Schlemm's canal, similar to that observed in the cochlea in @DISEASE$ @PHENOTYPICFEATURE$.	false
+51b2becf5ea8290cb06015efb98ecf9be0f13d0e	Here we report the nuclear magnetic resonance (NMR) structure of the LCCL domain from human Coch-5b2, where dominant mutations leading to @DISEASE$ @PHENOTYPICFEATURE$ disorder have been identified.	false
+43141e552be38eed3329f2a064b51e9c01d4c6ba	NMR structure of the LCCL domain and implications for @DISEASE$ @PHENOTYPICFEATURE$ disorder.	false
+9a5b855608efcb140171b220936626105e9a9ef1	Pathogenic variants in COCH, encoding cochlin, cause @DISEASE$ @PHENOTYPICFEATURE$ disorder with characteristic histopathologic findings of cochlin deposits in the inner and middle ears.	false
+65c230c1c5e82f9ff3f89680feb7fb533650902b	Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in @DISEASE$ @PHENOTYPICFEATURE$ and vestibular dysfunction.	false
+3daf40e331c885fd68a1424405754ee4973f9f8a	Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in @DISEASE$ @PHENOTYPICFEATURE$ and vestibular disorder.	false
+d4d185eb4bb72cf6df92b5aef9af017b4b62e0a0	The purpose of this article is to describe the second familial case with @DISEASE$ and @PHENOTYPICFEATURE$ as the family previously described by Garc?a-Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.	false
+0465a5bc68bc62bcb085f755d840af02b4bcf1e5	@DISEASE$, or hypertrichosis-osteodysplasia-cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with hypertrichosis, characteristic facial features, @PHENOTYPICFEATURE$, cardiomegaly, and occasional pericardial effusions.	false
+2b0650900749ce207b565aebc935a3b58f8a2ae3	In addition to the key facial and auditory findings observed in the @DISEASE$, these patients have such bilateral upper limb defects as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, and @PHENOTYPICFEATURE$.	false
+426e622ed9e4e82bfe68550263652579d491ecb2	The @DISEASE$ of the Lafora type (LD; MIM 254780) is a rare autosomal recessive disorder characterized by epilepsy, myoclonus, @PHENOTYPICFEATURE$, and the presence of periodic acid-Schiff-positive polyglucosan inclusions (Lafora bodies).	false
+4c6aace73d165f34a9a07b95b1594c70bbc2bd23	Farber disease is associated with joint deformities, lipomatous @PHENOTYPICFEATURE$, and often is fatal by 2-3 years of age; while SMA-PME is characterized by childhood-onset motor neuron disease and @DISEASE$.	false
+a055bb0400028bbda679726e8d6129de0ca2b3c0	We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, @PHENOTYPICFEATURE$, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and @DISEASE$.	false
+bc4b056eab2365c463fcfe01f8de09c1f9ddf809	A 27-year old male patient with @DISEASE$ with preserved intellect and @PHENOTYPICFEATURE$.	false
+e865400f6a665f87172de5a480368f9f4a03f67e	Histopathology of the @PHENOTYPICFEATURE$ was @DISEASE$.	false
+8105329fa37c8e5ef49b121832c7e2c3f5584c4d	The most frequent benign @PHENOTYPICFEATURE$ is the @DISEASE$.	false
+fd8e4f636dbfa35a7133ba52d7e0aca6c02fa772	Two @PHENOTYPICFEATURE$ arose in a pre-existing @DISEASE$.	false
+f93b858c6a988a5f4853432a5206a52ad38203dc	[@DISEASE$ as a parapharyngeal @PHENOTYPICFEATURE$.	false
+1676c7539654a2b96c5ab85cadd7ff8cab931eed	The most common benign salivary @PHENOTYPICFEATURE$ is a @DISEASE$.	false
+fab59c34da49b17e0f68d22757dedcb7a43d0a44	Histological analysis of the @PHENOTYPICFEATURE$ revealed a @DISEASE$.	false
+cfa91e9141e5106db9ce1a4b19d3bae03bb17676	We searched several online databases using the key terms pleomorphic adenoma, recurrent pleomorphic adenoma, parotid gland @PHENOTYPICFEATURE$, parotid surgery, radiotherapy and parotid @DISEASE$, and parotid surgery outcomes.	false
+512f2e3aba459303864f2830910ddd311529b902	We searched several online databases using the key terms pleomorphic adenoma, recurrent @DISEASE$, parotid gland @PHENOTYPICFEATURE$, parotid surgery, radiotherapy and parotid pleomorphic adenoma, and parotid surgery outcomes.	false
+27d1de36e0df10aec64942fd873158635a1c3c95	We searched several online databases using the key terms @DISEASE$, recurrent pleomorphic adenoma, parotid gland @PHENOTYPICFEATURE$, parotid surgery, radiotherapy and parotid pleomorphic adenoma, and parotid surgery outcomes.	false
+7e298630237baf30a1036afcf635fae4c15ccc4b	@DISEASE$ was the most common benign @PHENOTYPICFEATURE$.	false
+8e20d3142b9d8510d00c148e468decf9af87b434	The histological differential diagnoses of recurrent benign pleomorphic adenoma, @DISEASE$ resembling mesenchymal @PHENOTYPICFEATURE$, and carcinoma in (ex) pleomorphic adenoma are discussed.	false
+d9c434017a0d99859afedd8fc096e7f76061ac72	The histological differential diagnoses of recurrent benign pleomorphic adenoma, pleomorphic adenoma resembling mesenchymal @PHENOTYPICFEATURE$, and carcinoma in (ex) @DISEASE$ are discussed.	false
+8ce9ec6a8806c131b47db632c833101fa6651d2c	The histological differential diagnoses of recurrent benign @DISEASE$, pleomorphic adenoma resembling mesenchymal @PHENOTYPICFEATURE$, and carcinoma in (ex) pleomorphic adenoma are discussed.	false
+2fcdad0210fdcac92f350a85206e187d9ccf4b15	The most common benign @PHENOTYPICFEATURE$ was @DISEASE$.	false
+da7ba278c3a330a07c85253fe045a26e0cb8bd0c	The major anomalies showed by the patient include diffuse polymicrogyria, @DISEASE$, craniosynostosis with severe scaphocephaly, severe mental retardation, intractable epilepsy, and minor facial and @PHENOTYPICFEATURE$.	false
+5121298c9c309511a8e9356b669a315d39760798	Diffuse polymicrogyria associated with @DISEASE$, craniosynostosis, severe mental retardation, and minor facial and @PHENOTYPICFEATURE$.	false
+a47829d0dc9ce094b0e8ba73d7e4c0a6b868733f	Diagnosis included meningomyelocoele (7), @DISEASE$ (7), postmeningitic complications (5), intracranial @PHENOTYPICFEATURE$ (4), and intraventricular hemorrhage (2).	false
+f1b75605004f9a465ba7a40d8a8cab6dbdc206df	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes @PHENOTYPICFEATURE$, @DISEASE$, intracranial neoplasms, and mental retardation.	false
+b5e7ebabaed0fc0dbf6a008f31a2806d9447691d	Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, @DISEASE$, intracranial @PHENOTYPICFEATURE$, and mental retardation.	false
+1ddfb9c041a5b57e377bb2d20bec4580e3844590	An unusual case of @DISEASE$ and visual loss due to developmental @PHENOTYPICFEATURE$ of optic pathways is described.	false
+7fc5f76a2c7acc182fd123f6d95264d9a830bb98	There were 34 cases (56%) of @DISEASE$ followed by 19 (31%) post meningitis and 8 (13%) due to @PHENOTYPICFEATURE$.	false
+36de56debdfad231931f5587930c806209125860	@DISEASE$ is considered as either acquired due to haemorrhage, infection or @PHENOTYPICFEATURE$ or as of developmental nature and is divided into two subgroups, communicating and obstructive.	false
+cb3f17dc3de77bf13713ae60f64e5582c09f2166	Partial trisomy 8q and partial monosomy 15q associated with @DISEASE$, diaphragmatic hernia, @PHENOTYPICFEATURE$, congenital heart defect and kyphoscoliosis.	false
+a777a5e085aba194e467ed74e2df1c0cb9b46b8f	Congenital anomalies in four newborns included @DISEASE$, harelip and complete @PHENOTYPICFEATURE$, bilateral accessory auricles and bilateral incurving 5th fingers.	false
+6e60ba2da323c9f178a624ff62491625b5b126bb	The five most common birth defects were congenital heart defects, limb anomalies, cleft lip/@PHENOTYPICFEATURE$, Down syndrome, and @DISEASE$ respectively.	false
+d7b0464291ac224903792d3d47dd53a3d7350857	Case history of a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b2091a41ba6d6aff5e1bb97fa77a23dd4d07f992	Long-term outcome after thalamotomy for @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e7f46f31a229fcd961826f31a7305a8848709a83	Neuropsychological similarities and differences among Huntington's disease, @DISEASE$, and cortical @PHENOTYPICFEATURE$.	false
+7e6231bb098123511a6c2933e4181cdbd7547a58	Preventive effects are similarly documented in youth and seniors towards several morbid conditions: vitamin D deficiency, @DISEASE$, @PHENOTYPICFEATURE$ and myopia.	false
+85a3dc5306f25cfa65953331a3ffb605db00173d	Corticosteroid therapy is employed in @DISEASE$ (MS), a @PHENOTYPICFEATURE$ characterized by an inflammatory process.	false
+7b88e73303b793b5d150921883ea4284f9e64eca	@PHENOTYPICFEATURE$ are common in patients with @DISEASE$ (MS), however not as readily recognized as cognitive impairments.	false
+ac85a381efabc821e677aa69be1ab2ddb4f9af3d	@PHENOTYPICFEATURE$ sleep, illness intrusiveness, and depressive symptoms in three chronic illness conditions: rheumatoid arthritis, end-stage renal disease, and @DISEASE$.	false
+56c0aadfb8e17c7d25a599b7a9037f3e1e47f12f	Structural brain correlates of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e0ec73805a20280d6f221aa10615f061b24c0cd2	Transient @PHENOTYPICFEATURE$ and @DISEASE$.	false
+71a796b12159224ab72a6437781ca2a8cf5bbe45	CT guided thalamotomy for @PHENOTYPICFEATURE$ in @DISEASE$: problems and paradoxes.	false
+0c9b4b4921d122b833c7d1e91088557749f400a5	Extraintestinal manifestations of @DISEASE$ occurred in half the patients (sacroillitis, peripheral @PHENOTYPICFEATURE$ and erythema nodosum).	false
+47a33ce0d2e81079fe81d62039d2e8c23d063b15	Vascular @PHENOTYPICFEATURE$ were commonly observed in thioguanine treated @DISEASE$ patients, although these were not progressive and remained of limited clinical relevance over time.	false
+259d2302d9e9c0f4253f3adfdcdb1d989cc59439	Peripheral @PHENOTYPICFEATURE$, radiographic sacroiliitis, and ankylosing spondylitis are apparently frequent manifestations in patients suffering from @DISEASE$.	false
+4bf91006bb732d5e428c5570d2e6acf3936040f0	for chronic gastritis, ulcer of the stomach, @PHENOTYPICFEATURE$, benign tumor, @DISEASE$, angina pectoris, hyperlipidemia, rheumatism, colon polyps and skin disease.	false
+1131d830254b6de9bfa186defb9f1d9d5df5b2df	for chronic gastritis, ulcer of the stomach, cerebral ischemia, benign @PHENOTYPICFEATURE$, @DISEASE$, angina pectoris, hyperlipidemia, rheumatism, colon polyps and skin disease.	false
+d083a3cf124e4ef7045940a92d33b16ab2956b31	It can be caused by intestinal @PHENOTYPICFEATURE$, mesenteric vascular thrombosis, concomitant @DISEASE$ or infectious colitis.	false
+c2d7dca4c0f743f2adab54074c9e2f4d019d11c9	Liver disease in primary sclerosing cholangitis-@DISEASE$ in Asian children has @PHENOTYPICFEATURE$.	false
+d603c3aa241c646176cdb700d5ad339b4f738b91	The term 'spondyloarthritides' (SpA) comprises ankylosing spondylitis (AS), reactive arthritis, arthritis/spondylitis with @DISEASE$, and @PHENOTYPICFEATURE$/spondylitis with psoriasis.	false
+7a7dd8e046872275d3e9f6fc59b4048e1567bed6	The term 'spondyloarthritides' (SpA) comprises ankylosing spondylitis (AS), reactive arthritis, @PHENOTYPICFEATURE$/spondylitis with @DISEASE$, and arthritis/spondylitis with psoriasis.	false
+c4c87101baf03bef0205bc39d6ce9f7715b1c0f0	Rheumatological manifestations in @DISEASE$ (IBD) are frequent and include peripheral @PHENOTYPICFEATURE$, axial involvement and peripheral enthesitis.	false
+50c1647be35e86f542b68f9004665e0ee49784ca	Rheumatological manifestations in inflammatory bowel disease (@DISEASE$) are frequent and include peripheral @PHENOTYPICFEATURE$, axial involvement and peripheral enthesitis.	false
+da7ffd83e8d3fd387156f4a1f04ac0d4a6ec01a7	Peripheral @PHENOTYPICFEATURE$ and related musculoskeletal manifestations, often classified as peripheral spondyloarthritis, are frequently seen in patients with @DISEASE$ (IBD).	false
+6fb3cc29485cbdbdda08729745301987aa7b49db	Peripheral @PHENOTYPICFEATURE$ and related musculoskeletal manifestations, often classified as peripheral spondyloarthritis, are frequently seen in patients with inflammatory bowel disease (@DISEASE$).	false
+d9c02192c9ac8574a296e91a2c86245aa0275609	There are many different causes for granulomatous vasculitis, such as herpes virus infection, lymphoproliferative disorders, systemic @PHENOTYPICFEATURE$, and @DISEASE$.	false
+33015e78d96f15040e3ed6d5a1be67aea2102d5e	She had the characteristic of @PHENOTYPICFEATURE$ of @DISEASE$.	false
+473d0b26b1743d3c19196988ab53b5e56900695c	Patients with this very rare mutation present with a myriad of ocular findings, including infantile cataract, @DISEASE$, corneal opacification, and orbital @PHENOTYPICFEATURE$.	false
+844f2af07470d158489067ef8f7ec740c4be29ae	More notably, @DISEASE$ deficiency also limited @PHENOTYPICFEATURE$ cell invasion and the number of circulating cancer cells, markedly reducing the number of lung metastases.	false
+28b484bc6e4651ed24cc647d8489a0cc123dc184	Augmentation of in-vitro HIV replication in peripheral blood mononuclear cells of AIDS and @DISEASE$ patients by @PHENOTYPICFEATURE$ necrosis factor.	false
+c337df310afeeb3cb8320b70e66352a37115ca13	Partial @PHENOTYPICFEATURE$ responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with ARC and peripheral neuropathy treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with @DISEASE$ related peripheral neuropathy, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+2b79e67a9140236a39478406bb0122cb8088373c	Partial @PHENOTYPICFEATURE$ responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with @DISEASE$ and peripheral neuropathy treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with ARC related peripheral neuropathy, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+547e0a3e17e8fbb6f7b8abf79f8d66d762cd39c3	Similar to our results on phenotype, we found no significant difference with respect to the production of @PHENOTYPICFEATURE$ necrosis factor (TNF), in that monocytes of AIDS and @DISEASE$ patients showed an increase in TNF secretion after stimulation with LPS comparable to controls.	false
+def36ae987e004a59cacd78d4c010ea80cfff067	Therefore the reduced NK activity in AIDS and @DISEASE$ patients can be consistent with the development of viral infections and unusual @PHENOTYPICFEATURE$ frequently observed in such patients.	false
+f3c1f5da5b6e49a9e5213d4422ad2ddd5132524a	Together with the fact that there are multiple signs of EBV-activation in AIDS-patients and patients with @DISEASE$ or PGL, this suggests that these virus carrying @PHENOTYPICFEATURE$ develop as results of the immunosuppression, and that EBV has an important role in their pathogenesis.	false
+f4b556a73698e5ac35a15b05bee0d22a108a77d4	Eight patients with @DISEASE$ and @PHENOTYPICFEATURE$ were recently evaluated.	false
+3390b0b1335a59e4618e28c990f479906ea58e77	We introduce the short @DISEASE$ @PHENOTYPICFEATURE$ tracking (SATT) method to overcome these issues.	false
+5023dd0f767f5abc94f89853f3aadee922202377	The implications of this study are that @DISEASE$ patients with @PHENOTYPICFEATURE$ should be fully evaluated and be considered for long-term dialysis.	false
+7793a6231b3259dd82c8e2a23ead997cbcf84191	As the number of AIDS and @DISEASE$ patients continues to increase dramatically, urologists will be called upon more frequently to help evaluate these patients for reversible causes of @PHENOTYPICFEATURE$ and to obtain tissue for pathologic diagnosis.	false
+e3f3d246973419bbe1fcf2e2ff97163876bf7182	There is evidence that some mothers of infants with Down's syndrome have @PHENOTYPICFEATURE$ of folate and methyl, as well as mutations in folate genes, which are features that are also seen in neural-tube defects (@DISEASE$).	false
+4ad37adc3151120b509ebfe083c4f442d9490e91	There is evidence that some mothers of infants with Down's syndrome have @PHENOTYPICFEATURE$ of folate and methyl, as well as mutations in folate genes, which are features that are also seen in @DISEASE$ (NTD).	false
+9287fb8175532f9334aa283783786ab86b44f527	The most common reported anomalies were @DISEASE$, @PHENOTYPICFEATURE$ or hypoplasia, intracranial lipoma, Arnold-Chiari malformations, hydrocephaly, ventriculomegaly, and cerebral hypoplasia.	false
+58cae7e0968040aa4a33ada8bcb188539f203c4a	@DISEASE$ contribute greatly to perinatal loss, physical handicap, @PHENOTYPICFEATURE$ and other developmental defects, yet the mechanisms through which they occur are poorly understood.	false
+f020e5b820cc3794d8185dde698753321feb7f9c	Clinical applications of bioethical considerations are given to the patients with following diseases: @PHENOTYPICFEATURE$ and other @DISEASE$, congenital metabolic disorders such as cretinism and phenylketonuria, malignant tumors such as neuroblastoma and retinoblastoma, and intractable epilepsy.	false
+643dfad94c5c68f672fe8ea5c35b3acd288d2624	Hydrocephalus associated with @DISEASE$ (@PHENOTYPICFEATURE$ and encephalocoele) constituted 24 cases (39.3%), and there was aqueduct stenosis in 10 cases (16.4%).	false
+68d62187bf3f2dce5622d7e86d2a9e7dd892a27d	Significant differences (p < 0.01) between ethnic groups were exhibited by the birth prevalence of neural tube defects (@DISEASE$), cleft palate, cleft lip, oesophageal atresia/fistula, hypospadias, hip dislocation, clubfoot, polydactyly, and @PHENOTYPICFEATURE$.	false
+866e59df734e4a99593eb92d90e4ec15b3705994	Significant differences (p < 0.01) between ethnic groups were exhibited by the birth prevalence of @DISEASE$ (NTD), cleft palate, cleft lip, oesophageal atresia/fistula, hypospadias, hip dislocation, clubfoot, polydactyly, and @PHENOTYPICFEATURE$.	false
+6b2cfe147188c55a47bbe42bf6a370599cb9cbe3	To ascertain the incidence and clinical implications of @PHENOTYPICFEATURE$ (ACC) in spinal open @DISEASE$ (SONTD).	false
+8d0aecc3bf3a66dc3040fb5d100749ca80e60af3	The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, @DISEASE$ associated with heterozygous mutations, @PHENOTYPICFEATURE$, polymicrogyria, and autistic spectrum disorder.	false
+3839bce2be64943d9abc9e22e5c7c064fae5fedf	Here we show that mice with a targeted disruption of Lkb1 die at midgestation, with the embryos showing @DISEASE$, mesenchymal cell death, and @PHENOTYPICFEATURE$.	false
+5c9103ad68e22bc4c81f40ebcc1f4e11a29b23a2	Genetic differences may be responsible for Europeans being at lower risk of polydactyly and at higher risk of @DISEASE$, cleft lip, hypospadias, hip dislocation, and @PHENOTYPICFEATURE$ than Caribbeans.	false
+e27a44340cd1deb6205f115f35605855a999fadd	In this issue, Amyere et al. report a genome-wide analysis of seven families with @DISEASE$ and @PHENOTYPICFEATURE$, identifying three new mutations in KITLG.	false
+092a53abb45e3e4ed94d7ad9c7ae484aef604309	Some mutation carriers exhibited dysmorphic features, including hypertelorism, small mandible, @PHENOTYPICFEATURE$, clinodactyly, cleft palate, and scoliosis, which, together with cardiodysrhythmic periodic paralysis, have been termed "@DISEASE$."	false
+7b1d38f7348d900f1b8f9a304edf3ae5cbc52c83	Clinodactyly and @PHENOTYPICFEATURE$ - diagnostic clues for @DISEASE$.	false
+b1c01c2f2115e260bd0442c733c3543137887dd5	[Comparative endoscopic and radiological study in diagnosis of @DISEASE$, ulcerative processes and @PHENOTYPICFEATURE$].	false
+25cee60bc2f9e60611ab064b67e038bef403ce5d	Treatment with @DISEASE$ reduced hyperglycemia and @PHENOTYPICFEATURE$, especially at the dose of 200 mg/kg.	false
+07c0c2d0fff4e428057c3448e08da1b0c25b899c	He presented with a solitary median maxillary incisor, short stature, corpus callosum anomalies and a microform of holoprosencephaly (@DISEASE$), diabetes insipidus, and @PHENOTYPICFEATURE$.	false
+759ee5026584da2e64514b6cd79bdc2db4af4d98	@DISEASE$ and @PHENOTYPICFEATURE$ observed in diabetic groups were found to be reduced in frequency in the diabetes plus ethanol groups, suggesting an antagonistic type of ethanol-diabetes interaction, stage-dependently.	false
+051552438cd0937442b4c85877501077a8cfc8f1	The syndrome consisted of intra-uterine @PHENOTYPICFEATURE$, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with the diagnosis of @DISEASE$, a very rare autosomal recessive phenotype, the gene of which remains to be identified.	false
+3acfe3bed4f11c079cc254d06a564e47fca91db1	The aims of this study were to characterize dysphagia in SCA3/@DISEASE$ through videofluoroscopy (VF) of swallowing, correlate VF with disease severity criteria and @PHENOTYPICFEATURE$, and determine the clinical criteria cutoffs for performing VF in the clinical routine, in order to detect aspiration.	false
+a13e04759d4f107035084122ce2667e451dd0d47	Q71 transgenic mice expressing mutant ataxin-3 mjd1a above a critical level developed a phenotype similar to @DISEASE$ including progressive postural instability, gait and limb ataxia, @PHENOTYPICFEATURE$, premature death, neuronal intranuclear inclusions, and decreased tyrosine hydroxylase-positive neurons in the substantia nigra (determined by unbiased stereology).	false
+e005cf00ee4919f8a1d9efb9524673d00558b604	@DISEASE$ with @PHENOTYPICFEATURE$ and dementia.	false
+0f5a0fc7dde83a163370abf3a9fdab05305a867f	These findings indicate that the clinical features of @DISEASE$ might cover a wider spectrum than previously expected, though it is possible that these complications, namely @PHENOTYPICFEATURE$ and dementia, were incidental findings in this patient.	false
+4ea8a99305d9aa8060e1bfa33ac24ca4361090a1	Larger expansions correlated with areflexia in SCA 2, with pyramidal signs in @DISEASE$ and with early @PHENOTYPICFEATURE$ in SCA 7. Survival was similar among the different SCA subtypes.	false
+b7496f6ee053f88f13574d7a1751bfb364d93d92	Additionally, this data describes the occurrence of @PHENOTYPICFEATURE$ in @DISEASE$ group.	false
+0a56a6c8bd61fc9f7eedf4a34152c21edd6fd615	Four cases in two generations of a Japanese family are described as affected by an autosomal dominant-inherited cerebellar ataxia, pyramidal and extrapyramidal signs, and @PHENOTYPICFEATURE$, resembling @DISEASE$.	false
+74a84fff2c3956bc661a67ac7e899f2678bad57d	@PHENOTYPICFEATURE$ and micro-opsoclonus are common in @DISEASE$.	false
+c9da092daa0a18c856ba90f1fc3edc4cc157a59c	A small 55-repeat MJD1 CAG allele in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2f30dc4766bbb180ddeb2c235f4d235b7fb61af1	Retinitis pigmentosa (RP), the most common form of inherited @PHENOTYPICFEATURE$, is clinically and genetically heterogeneous and can appear @DISEASE$ or non-syndromic.	false
+88eb6d7f65bdc9021ba5c9c8a0d37a36cec4092c	@DISEASE$ (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and @PHENOTYPICFEATURE$.	false
+acf29b7a258918b8d44eccc64695aa987ccfaa6e	Hepatorenal tyrosinemia (HT1, @DISEASE$, MIM 276700) can cause severe hepatic, renal and @PHENOTYPICFEATURE$.	false
+13f2ab94fa2b655f9e0e3bdd908c24485f8a7350	Novel de novo @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+93a578bad3b1951a5ff85dd231368bdd87193a86	Male sex, @PHENOTYPICFEATURE$, and low lean mass are associated with low @DISEASE$ in CF.	false
+385098a4058a1e6fc6923896eea648149ad4e0b5	@DISEASE$ by DXA is within normal range for most, particularly after correction for @PHENOTYPICFEATURE$.	false
+8d2035e561ef38ce38bf8329ba238ba9e6f949e1	% of subjects with short stature showed a low measured @DISEASE$ Z score depending on the measured site, only 2.6 % of those of @PHENOTYPICFEATURE$ had a low adjusted BMD Z score after applying the predicted BMD Z score.	false
+f38c796ad98bb69adb8cb48e169f8955940810a8	% of subjects with @PHENOTYPICFEATURE$ showed a low measured @DISEASE$ Z score depending on the measured site, only 2.6 % of those of short stature had a low adjusted BMD Z score after applying the predicted BMD Z score.	false
+65150d21cb6bbf7b22df33a137cef34c416038c4	% of subjects with short stature showed a low measured BMD Z score depending on the measured site, only 2.6 % of those of @PHENOTYPICFEATURE$ had a low adjusted BMD Z score after applying the predicted @DISEASE$ Z score.	false
+bc58be38085cd49c6702bbd9f452493106cb800e	% of subjects with @PHENOTYPICFEATURE$ showed a low measured BMD Z score depending on the measured site, only 2.6 % of those of short stature had a low adjusted BMD Z score after applying the predicted @DISEASE$ Z score.	false
+b8025b8e03e3ceaa5e8094986fc364eb079056c8	The effect of GH on the @DISEASE$ of children with idiopathic @PHENOTYPICFEATURE$ is unknown.	false
+6056d597bdaff216a5040f70fb5545023fa23b65	These @DISEASE$ patients, who present with visual failure and @PHENOTYPICFEATURE$ in middle age, can be misdiagnosed as being affected with adult-onset macular dystrophies instead of BMD, because the latter is often regarded as a disease of childhood and adolescence.	false
+cb9e619a59d4d33c31591d70ddb3ca4bef5e3fd0	These BMD patients, who present with visual failure and @PHENOTYPICFEATURE$ in middle age, can be misdiagnosed as being affected with adult-onset macular dystrophies instead of @DISEASE$, because the latter is often regarded as a disease of childhood and adolescence.	false
+acacfc4c6cd13c124f40e46cb36105176f57eac7	While de novo @PHENOTYPICFEATURE$ is quite common in @DISEASE$/DMD patients, it is rarely reported in the female carriers.	false
+67fb1a034f73cab440df98ea6b3e0f146eea5ee5	Adjustments for @PHENOTYPICFEATURE$ must be considered during @DISEASE$ interpretation.	false
+42fc2feda877ed3c0b6c4bb1d33092b55e947b60	@PHENOTYPICFEATURE$ in elderly, low @DISEASE$ and fractures correlated with increased arterial stiffness and hypertension.	false
+604467298c2384a0a2f1c8b139bad9666eb78b82	The aim of this study was to evaluate TBS and @DISEASE$ in women with @PHENOTYPICFEATURE$.	false
+5c2fc7b33150a9981740eda9b8954db0d569da14	A 57-year-old man with @DISEASE$ had flank pain as a result of @PHENOTYPICFEATURE$ and right hydronephrosis.	false
+f639e66a132547541e362cced7955cffecfcc023	A malformation association comprising bilateral atypical macular coloboma, @DISEASE$ and mesomelic @PHENOTYPICFEATURE$ of upper limbs with bilateral radiohumeral fusion is reported in two sisters.	false
+583dbb3149349fa50be918e6d0f2bef104da4ea8	Clinical features included @DISEASE$, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, visual impairment, deafness, and @PHENOTYPICFEATURE$.	false
+401eda55e19259f79923c542535740468a5ec285	In family CL, epilepsy (febrile seizures, @PHENOTYPICFEATURE$ plus), kinesigenic paroxysmal dyskinesia and migraine (including @DISEASE$) were observed in various combinations over 3 generations.	false
+bdbb59d9b25649187a4e7564c8f015df34713495	In family CL, epilepsy (@PHENOTYPICFEATURE$, febrile seizures plus), kinesigenic paroxysmal dyskinesia and migraine (including @DISEASE$) were observed in various combinations over 3 generations.	false
+304c1afd95ac937d03aad58590f66e6ddc161163	BFIS co-occurred with migraine and @PHENOTYPICFEATURE$ in 2 families, with childhood absence epilepsy in one family and with @DISEASE$ in one family.	false
+93d319c0c80818597764d8a19e7a68bd913a39df	Our results confirm the predominant role of PRRT2 mutations in BFIS and expand the spectrum of PRRT2-associated phenotypes to include @PHENOTYPICFEATURE$, childhood absence seizures, migraine, and @DISEASE$.	false
+5c68c207aa723451052537c8e974d4e7dd2cde5c	Twenty-six patients (16.6%; 50% women; one familial, 25 sporadic) had one or more immunopathological diseases associated: autoimmune diseases, such as idiopathic thrombocytopenic purpura, multiple sclerosis, @PHENOTYPICFEATURE$, psoriasis, Crohn's disease, ulcerative colitis, autoimmune thyroid disease, @DISEASE$ and idiopathic recurrent facial palsy; other immunopathological diseases, like atopic dermatitis, allergic asthma and allergic rhinitis.	false
+3eefae4fecc87ba3fc12be6025050f9385d8d585	Contralateral @PHENOTYPICFEATURE$ as the initial complaint from an unsuspected @DISEASE$ is extremely unusual if not unique.	false
+0ea5db598ded9ba2fcd3da64d0540b0d4dc24f90	The purpose of this study was to search for an optimal radiation dose in the treatment of patients with @DISEASE$ using 125I episcleral plaque radiotherapy (EPRT) and episcleral @PHENOTYPICFEATURE$ (HT).	false
+cda29a568e65629e96dd29da70fc7ec73721e210	To compare intravitreal therapy with the natural course of radiation optic neuropathy after primary proton beam therapy for @DISEASE$ with respect to long-term visual acuity and development of @PHENOTYPICFEATURE$.	false
+07a32d7b75c5916726d574af87f77d1866829e09	The clinical phenotype of BAP1 alterations includes MBAITs (melanocytic BAP1-mutated atypical intradermal tumors), @DISEASE$ (UM), cutaneous melanoma (CM), @PHENOTYPICFEATURE$ (RCC), mesothelioma (MM), and possibly several other tumors.	false
+ce9db3d85a24b76502759c5a409d0c2b085c8616	A 60 year-old male who had undergone left ocular enucleation for @DISEASE$ 20 years ago was referred to our department with a three months history of diffuse abdominal pain, @PHENOTYPICFEATURE$, weight loss and massive ascites.	false
+f3bd778db681c00a4a13bd5720cca946803f6493	A 65-year-old woman with macular @DISEASE$ in one eye and @PHENOTYPICFEATURE$ in the fellow eye was treated with proton beam irradiation and evaluated for 10 years.	false
+21f23a7b3501bc130d90bf2e1abbccd11ed64070	Contralateral @PHENOTYPICFEATURE$ from chiasmal extension of unsuspected @DISEASE$.	false
+3c186a9cd93de2db9a7fae0047b06fb6b5811c8b	The @DISEASE$ was first observed in a Yemenite sister and brother showing cutaneous @PHENOTYPICFEATURE$ and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss.	false
+66a7b6bad6b1e4ac4cfb8fb8e3bf08c47ff89c5a	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, @DISEASE$, and Jackson-Weiss syndrome.	false
+ce32661b91d35171d59bc299aba6cf9d21ba8236	Some HSAN1E patients also develop narcolepsy and it has recently been suggested that HSAN1E is allelic to @DISEASE$, @PHENOTYPICFEATURE$, with narcolepsy (ADCA-DN; OMIM 604121), which is also caused by mutations in DNMT1.	false
+1591dd72697871828560222e18582e60d228978c	Mutations in exons 21 and 20 of the DMNT1 gene have been associated with two multisystem neurodegenerative diseases that involve central and peripheral nervous system ADCADN (@DISEASE$ with @PHENOTYPICFEATURE$ and Narcolepsy) and HSAN 1E (Hereditary Sensory and Autonomic Neuropathy IE).	false
+9da0f415f70fea17fe3546e276b097063b55c098	Here we review the characterization of the robotic mouse, a novel model of @DISEASE$ isolated from an ENU-mutagenesis programme, which develops adult-onset region-specific Purkinje cell loss and cataracts, and displays defects in early T-cell maturation and general @PHENOTYPICFEATURE$.	false
+d8c280781b723130c25e53288148ea61fa60588f	In this study, we describe a family with adult-onset @DISEASE$ with @PHENOTYPICFEATURE$ and narcolepsy (ADCA-DN) caused by mutations in the maintenance methyltransferase DNMT1 and assess the DNA methylation profile of these individuals.	false
+56215848c755601696e400b658d9318298b42c9c	@DISEASE$ with @PHENOTYPICFEATURE$, myoclonus and amyotrophy.	false
+0af510e970bdef74d2a451f3d52d7f92b99cb268	@DISEASE$ with @PHENOTYPICFEATURE$ and narcolepsy (ADCA-DN) is an emerging syndrome caused by mutations in the C-terminus end of the TS domain of the DNMT1 gene.	false
+07e2b78137a5ee70fe172be5be817eae30ec9686	In contrast, both groups that experienced prolonged @PHENOTYPICFEATURE$ (LTDC and DWC) had broad distributions of best ITDs around the midline, unlike the more focused distributions biased toward contralateral-leading ITDs present in both @DISEASE$ and normal-hearing animals.	false
+c34b0971cb1e89a766124383c932a8ef8cfbab36	MELAS syndrome: @PHENOTYPICFEATURE$ and @DISEASE$: a case report and review of the literature.	false
+474b27d60ed1b0edacdbb5195faabc0b0d803e01	A novel SURF1 mutation results in Leigh syndrome with @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+f7ec55da66adbcc7c4f0183c4506e13bdc38eb54	A novel mutation in the SURF1 gene in a child with Leigh disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ba317bfa26dc4254b3780d41a685933573e3f1a0	Constitutional mutations are associated with @DISEASE$ and syndromes such as Denys-Drash syndrome (DDS) characterized by nephropathy, @PHENOTYPICFEATURE$ and often a predisposition to Wilms tumor.	false
+9cae7a799a3c7c6903126ed844ffac7711677cc7	In addition to these two genes, loci at 1p, 7p, 16q, 17p (the p53 @PHENOTYPICFEATURE$ suppressor gene), and 19q (the putative @DISEASE$ gene FWT2) are also believed to harbor genes involved in the biology of Wilms' tumor.	false
+fc8c161044e5f218eb0f4624282a4ae7629922b4	Although @DISEASE$ is thought to develop through inherited and acquired mutational inactivation of the two alleles of predisposing @PHENOTYPICFEATURE$ suppressor genes, only a small percentage of cases can be accounted for by mutations affecting the WT1 gene or linkage to the Beckwith-Weidemann syndrome of the BWS region on the short arm of chromosome 11.	false
+ca91de6e32b2844b7b5b5bd6d90f94a338d82876	We have compared constitutional and @PHENOTYPICFEATURE$ genotypes in nine cases of @DISEASE$ (WT) and in three unrelated cases of familial adrenocortical carcinoma (ADCC).	false
+143fae78a1084146f641097b2936d5c0bd5c57c5	Both disorders are primarily sporadic, but @DISEASE$ pedigrees and familial neuroblastoma pedigrees are each well recognized and account for approximately 1-3% of each @PHENOTYPICFEATURE$ type.	false
+31c18afbf478a450eb07d5d870ed5d19a5f49ab5	@DISEASE$ is a rare entity that accounts for only 1-2% of all Wilms tumor cases, with an earlier age of onset and an increased frequency of bilateral @PHENOTYPICFEATURE$.	false
+8804277f38ff80fcdb4265d675a10890e6a0c0d6	This presentation describes our investigations of four disorders: the syndrome of sarcomas, breast cancer, and other @PHENOTYPICFEATURE$; inheritance of both renal cell carcinoma and a constitutional chromosome translocation in a kindred; @DISEASE$; and the hepatoblastoma-adenomatous polyposis association.	false
+64eaa32ac4334db04c17a35e864bcb602e847932	Linkage of @DISEASE$ predisposition to chromosome 19 and a two-locus model for the etiology of familial @PHENOTYPICFEATURE$.	false
+11a1710a4b336c051f57fe986a529d69289fc309	Additionally, we also detected loss of heterozygosity in the index case @PHENOTYPICFEATURE$, which is consistent with CTR9 being a tumor suppressor gene, confirming also its contribution to @DISEASE$ etiology.	false
+e040b5c32b6d62edbc85e2cc497033785a42b6b1	Additionally, we also detected loss of heterozygosity in the index case tumor, which is consistent with CTR9 being a @PHENOTYPICFEATURE$ suppressor gene, confirming also its contribution to @DISEASE$ etiology.	false
+209f7048a3c9e4f2b661ae5dd4fec984449cd9c9	Patients with choroidal hemangioma (CH), a benign ocular @PHENOTYPICFEATURE$, frequently presents with visual disturbance as a result of exudative @DISEASE$ (RD), which originates in subretinal fluid accumulation.	false
+74389fea5df36fecd63dca73ad2fe60f55379e91	[Meningo-encephalitis with unilateral uveitis and @DISEASE$ following a recurrent icterogenic hepatitis; persistance, for six months, of a confusional syndrome with @PHENOTYPICFEATURE$ and changes of the cerebrospinal fluid].	false
+e538342966f4ac58fc220ca44cfb76da1c570564	As far as we are aware, calcific band keratopathy, abnormal vitreous structure, and chorioretinal @PHENOTYPICFEATURE$ associated with serous @DISEASE$ and vitreous hemorrhage have not previously been described.	false
+ac2fdf63455c3b1dca022603e5b9e8ebce1cd37d	Bilateral @PHENOTYPICFEATURE$ and numbness of the 4th and 5th finger started 2 weeks after vitrectomy for @DISEASE$ and face-down positioning.	false
+c8d0405c33cdea499d816190d240483d409f7cd9	Like the aggressive form of astrocytic @PHENOTYPICFEATURE$ it can lead to exudative retinopathy and exudative @DISEASE$.	false
+0d6f801c4c916d506e23458889cd5c3e97ca5c75	Serious maternal morbidity included disseminated intravascular coagulation (21%), abruptio placentae (16%), acute renal failure (7.7%), @PHENOTYPICFEATURE$ (6%), subcapsular liver hematoma (0.9%), and @DISEASE$ (0.9%).	false
+c5ccc279ed2030b8095d46db541aaa829b14a831	We present a case of a patient who presented with a serous @DISEASE$ and a known history of @PHENOTYPICFEATURE$, which he believed was controlled.	false
+aae29bd7c873e87747663d855eb8e4a601ff41c9	Two children with @DISEASE$ ascertained due to referral for diagnosis of @PHENOTYPICFEATURE$.	false
+a680e33be3e2f78bf469a906c540aba0f687b4ae	A @PHENOTYPICFEATURE$ and an overall @DISEASE$ were noted.	false
+17f681f0b064d7acc88bd0416f1985394bb2f07d	@PHENOTYPICFEATURE$ are common in patients with @DISEASE$, despite an absence of mutations to genes that specifically direct skeletogenesis.	false
+4c2c5fe4c3dc25f3e87ef2a5aa008a67f39af7c0	We report two children who were referred for diagnostic assessment for @PHENOTYPICFEATURE$ and were subsequently determined to have a @DISEASE$ (MD).	false
+4b6f53ece47b2ce23a8e6498ca6d45ec9a449a37	Ghrelin mimetics may be used to treat heart diseases, @DISEASE$/sarcopenia and @PHENOTYPICFEATURE$; GHS-R antagonists may be used to treat obesity and insulin resistance.	false
+17137fadaf6077d3db89dd3f750b1b9059eb2077	Genetic mutations in KASH proteins are associated with @PHENOTYPICFEATURE$, hearing loss, cancer, @DISEASE$ and other diseases.	false
+3de73ce391177eb30c851ae9b1156325c4a3a852	Diagnoses included @PHENOTYPICFEATURE$ (61), spinal muscular atrophy (22), @DISEASE$ (10), and other neurological etiologies (7).	false
+cd3c6916fc7713b856346f8da941fb82cb1cd1ea	He examines four diseases (cystic fibrosis, @PHENOTYPICFEATURE$, sickle cell disease, and @DISEASE$) for which we can screen, but currently do not screen in Canada.	false
+199411c23ad85bea1a7065c9c4f4004ba8dbe86c	This novel POMT function in the peripheral nervous system may shed light on analogous functions in mammals and help to elucidate pathomechanisms of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+fea3fac552e47f7eec985c05ff2129e505bb7747	Handicaps included mental retardation, cerebral palsy, Down syndrome, seizure disorders, @PHENOTYPICFEATURE$, cystic fibrosis, osteogenesis imperfecta, and @DISEASE$.	false
+1fefbfdbd94ab738f288c87cb28a3e54956f47a6	It is concluded that there is good evidence to associate hypophosphatasia, @PHENOTYPICFEATURE$, and hyperparathyroidism with @DISEASE$ and acute attacks of "pseudogout."	false
+a8a7ae215b16b49b79030bfd834ea274d4f89716	@PHENOTYPICFEATURE$ and @DISEASE$ in short bowel syndrome.	false
+b3a6c47063176d0569da643f4ab8fde5270baae2	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial @DISEASE$ (CCAL2), craniometaphyseal dysplasia (CMD), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+0bffcbd68db7bb7b7642a0f66e6db7fa4f86ed54	@PHENOTYPICFEATURE$ and @DISEASE$ in Gitelman syndrome.	false
+bbdfe2fb4ee5395e8fd46a807c65bb8de625bc6e	@PHENOTYPICFEATURE$ and @DISEASE$ in Bartter's and Gitelman's syndrome: review of the pathogenetic mechanisms.	false
+0ce7056a6369e614378fac099d726f99e5d338b3	Four major characteristics (cryptophthalmos, syndactyly, genital anomalies and affected siblings) and eight minor characteristics (alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis, @PHENOTYPICFEATURE$ and mental retardation) have been defined for the diagnosis of @DISEASE$.	false
+85b944e8189e22decae4ea42ad564bd1b35c3359	@DISEASE$ is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and @PHENOTYPICFEATURE$.	false
+686c8cfa68a21f9aadc5375d9a430e8b8b62991e	It has a phenotype distinct from classical pyogenic arthritis, pyoderma gangrenosum, and acne (@DISEASE$) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and @PHENOTYPICFEATURE$.	false
+ded55a9c6b433f494faf13f49db99148526dae5a	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as @DISEASE$ X A syndrome, FRA X E syndrome, Kennedy syndrome spinobulbare @PHENOTYPICFEATURE$, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich ataxia, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+c75924b5ab49887382b29d7c7db6467913fa0603	Nowadays 15 genetic syndromes and diseases caused by these mutations are known such as FRA X A syndrome, @DISEASE$ X E syndrome, Kennedy syndrome spinobulbare @PHENOTYPICFEATURE$, Curschmann-Steinert syndrome of myotonic dystrophia, Huntington disease, Friedreich ataxia, spinocerebellare ataxias types I., II., III., VI., VII., VIII., XII. and Taylor's oculopharyngeal muscle dystrophy.	false
+802d9a4f2e55746e55895bc3e1a7da87a37369e4	@PHENOTYPICFEATURE$ and @DISEASE$ scores significantly improved in each group comparing baseline with each time interval.	false
+e980499a8e9d78881ed260e29ce3dea12ba39838	@PHENOTYPICFEATURE$ and @DISEASE$ symptoms were self-reported.	false
+50e895fad2df4da7404229be6f45c2bea421c2b4	Abdominal pain, diarrhea, @PHENOTYPICFEATURE$, and nausea are the most common GI symptoms precipitating a visit to the physician, and @DISEASE$ is the most common GI-related diagnosis given in office visits.	false
+b8444613f8c9c9489d95f40b675f964ccfcd5a93	@PHENOTYPICFEATURE$, diarrhea, vomiting, and nausea are the most common GI symptoms precipitating a visit to the physician, and @DISEASE$ is the most common GI-related diagnosis given in office visits.	false
+ca5baf3d7e257121bc1d52dad9034e8fd8686b98	@PHENOTYPICFEATURE$ and @DISEASE$ (GERD) often coexist.	false
+78ee9bb57eb618b9ab5a9cfbf2f4892eec4282e2	@PHENOTYPICFEATURE$ and gastroesophageal reflux disease (@DISEASE$) often coexist.	false
+ac14119f637564bd9d63ed3f221c12ed44a9418c	@PHENOTYPICFEATURE$ and @DISEASE$ symptoms are common indications for endoscopy.	false
+fd285c4764b602e65ba6fc610038dc50c98d9547	The most common clinical manifestations were recurrent @PHENOTYPICFEATURE$ (64.8%) and vomiting (23.9%) followed by symptoms of @DISEASE$ disorder, poor weight gain, hematemesis and dysphagia.	false
+59d082906d774562b682f337fba42f88660fea1f	The most common clinical manifestations were recurrent abdominal pain (64.8%) and @PHENOTYPICFEATURE$ (23.9%) followed by symptoms of @DISEASE$ disorder, poor weight gain, hematemesis and dysphagia.	false
+ceb10896af10b4e5b112bf2b123ef5bc2395bd86	We identified patients with @DISEASE$ without alarm symptoms (dysphagia, bleeding, @PHENOTYPICFEATURE$, or weight loss).	false
+08a1591b5f2efc10e27964ac16382b8fa09596bb	Older children with @DISEASE$ may present with regurgitation, heartburn, chest discomfort, dysphagia, @PHENOTYPICFEATURE$, vomiting, poor appetite, or poor weight gain.	false
+da332c23caa9906acad1f0a84a5990e831aad4f5	Older children with @DISEASE$ may present with regurgitation, heartburn, chest discomfort, dysphagia, abdominal pain, @PHENOTYPICFEATURE$, poor appetite, or poor weight gain.	false
+60c0e837f14e90adcc2482fed9ce37e01a8f57a4	@PHENOTYPICFEATURE$ and @DISEASE$: dilemmas in diagnosis and management in children with neurological impairment.	false
+d006661a215c8737bfa39e3857258ddaf5579ff3	@PHENOTYPICFEATURE$ and @DISEASE$: a multidisciplinary point of view.	false
+73725548e50d21ecab2f6c4de2fa210cc1630bd9	Alpha-beta hydrolase domain-containing 5 (ABHD5), the defective gene in human @DISEASE$, is a highly conserved regulator of adipose triglyceride lipase (ATGL)-mediated lipolysis that plays important roles in metabolism, @PHENOTYPICFEATURE$ progression, viral replication, and skin barrier formation.	false
+abc46ea1cdabdbba72ce03dc387f66119c6fe95a	@PHENOTYPICFEATURE$ in women with borderline personality disorder and comorbid @DISEASE$.	false
+7e6645853a501945d1e3d69594aa5928e79bc956	Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including @DISEASE$, @PHENOTYPICFEATURE$, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning disability, and bipolar disorder.	false
+14b8f35a14de32afcd629a66f2d83c0ceaeba655	Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including @DISEASE$, seizures, autism spectrum disorder, intellectual disability, schizophrenia, depression, anxiety, learning @PHENOTYPICFEATURE$, and bipolar disorder.	false
+fbc8cd59e71c913cce1f6c8547b34176d06b7725	Twelve of the thirteen families have multiple members with neurodevelopmental and neuropsychiatric disorders including @DISEASE$, seizures, autism spectrum disorder, @PHENOTYPICFEATURE$, schizophrenia, depression, anxiety, learning disability, and bipolar disorder.	false
+778219d45386384bea06fba0512bfbbe60c27451	Accounting for ascertainment, developmental disability/@PHENOTYPICFEATURE$ was present in 57.7%, epilepsy/seizures in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and @DISEASE$ in 6.5%.	false
+0f43a3c26e061ebc0b1f0f8be1c46fa5c89bf5a4	Accounting for ascertainment, developmental disability/intellectual disability was present in 57.7%, epilepsy/@PHENOTYPICFEATURE$ in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and @DISEASE$ in 6.5%.	false
+9f29cd142d07bc0a61f9baed926db23bbb45466e	Accounting for ascertainment, developmental @PHENOTYPICFEATURE$/intellectual disability was present in 57.7%, epilepsy/seizures in 28.0%, speech problems in 15.9%, autism spectrum disorder in 10.9%, schizophrenia in 10.2%, mood disorder in 10.2%, and @DISEASE$ in 6.5%.	false
+62e4e5001da205b0fe8e4ff610c5dd6a41836673	Two patients who presented neonatally suffered from residual neurological damage with @DISEASE$, mild ataxia, motor incoordination, @PHENOTYPICFEATURE$, and weakness.	false
+1adc0bc02d7afa45cbbd123d00bcceca6a6c1663	Two patients who presented neonatally suffered from residual neurological damage with @DISEASE$, mild @PHENOTYPICFEATURE$, motor incoordination, muscle hypotonia, and weakness.	false
+c845088251c4b51ff07b418ae903cf6911222c84	The neurologic signs in order of frequency were: headache/migraine, @DISEASE$, epileptic seizures, @PHENOTYPICFEATURE$, cerebellar ataxia and behavior disorders.	false
+32bdb97f77204b077d50c7f018d928eac0eb654e	The neurologic signs in order of frequency were: headache/migraine, @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, cerebellar ataxia and behavior disorders.	false
+fae5bfb1d4bf6c731e3b8ede8dd7ed9f9e88068b	The neurologic signs in order of frequency were: headache/migraine, @DISEASE$, epileptic seizures, mental retardation, @PHENOTYPICFEATURE$ and behavior disorders.	false
+616d6f6e099d911d7fb43e8a3e150466d83f85c0	Developmental disabilities included @DISEASE$, autism, blindness, cerebral palsy, deaf/a lot of trouble hearing, learning @PHENOTYPICFEATURE$, mental retardation, seizures, stuttering/stammering, and other developmental delay.	false
+5f58ffe9dfe80e18a8d57935c6ee22e4d392c894	Developmental disabilities included @DISEASE$, autism, blindness, cerebral palsy, deaf/a lot of trouble hearing, learning disability, @PHENOTYPICFEATURE$, seizures, stuttering/stammering, and other developmental delay.	false
+5b9224b2ca3cba5b394ea1bfbedec13e7b673f5f	Developmental disabilities included @DISEASE$, autism, blindness, cerebral palsy, deaf/a lot of trouble hearing, learning disability, mental retardation, @PHENOTYPICFEATURE$, stuttering/stammering, and other developmental delay.	false
+345eb606caaf61e341df3ae919ec9642404f3e8a	Purpose Previous research has identified seizures, @PHENOTYPICFEATURE$, learning disability, pervasive developmental disorder, and @DISEASE$ as coexisting disabilities frequently seen in children who stutter (CWS).	false
+97038f9ba786489720eef2ec3556bac981bfd7ca	Purpose Previous research has identified @PHENOTYPICFEATURE$, intellectual disability, learning disability, pervasive developmental disorder, and @DISEASE$ as coexisting disabilities frequently seen in children who stutter (CWS).	false
+0f40033081945bcc89540fc1c1bb1be92828d562	Purpose Previous research has identified seizures, intellectual disability, learning @PHENOTYPICFEATURE$, pervasive developmental disorder, and @DISEASE$ as coexisting disabilities frequently seen in children who stutter (CWS).	false
+ef1fed5b74142dc5b556bd00685f6a2c688742b0	We apply the taxonomy to four childhood attention disorders: @DISEASE$, @PHENOTYPICFEATURE$ meningomyelocele, traumatic brain injury, and acute lymphoblastic leukemia.	false
+cc59841cbb97289bd83f710d02a0a0500a7dc960	We apply the taxonomy to four childhood attention disorders: @DISEASE$, spina bifida @PHENOTYPICFEATURE$, traumatic brain injury, and acute lymphoblastic leukemia.	false
+64ce97c54fff006f42e2a253d95b2bc3817a6164	Tuberculosis @PHENOTYPICFEATURE$ and @DISEASE$ in children.	false
+3d5cbe4691210344541d3cbcf6c06986470c51d4	He manifested seizures, @DISEASE$, and @PHENOTYPICFEATURE$ without pellagra or ataxia.	false
+f479cb6be3767f04ae1c28caa4a35b901eda1762	He manifested @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation without pellagra or ataxia.	false
+9e5be7c04ba5651fae712a3f2e3b165fba2afe55	He manifested seizures, @DISEASE$, and mental retardation without pellagra or @PHENOTYPICFEATURE$.	false
+520b5eee8080f522fc6fb2991fbca61c258dbcc5	The diagnosis of @DISEASE$ should be considered in patients with IBD taking immunosuppressive therapy who present with @PHENOTYPICFEATURE$ and cytopenia.	false
+e696174bba9e69ee4fba209b03838769b81718a8	AOSD patients with @DISEASE$ showed higher frequencies of leukopenia, anemia, thrombocytopenia, @PHENOTYPICFEATURE$, hypofibrinogenemia, hypertriglyceridemia, hyperferritinemia, and elevated lactate dehydrogenase levels than did those without RHS.	false
+4a678a26932d357216734ab6c985d7f8e70bdafe	We report a case of a 35-year-old human immunodeficiency virus positive male, having CD4+ count of 336/?l, who presented with @DISEASE$ and had @PHENOTYPICFEATURE$, painful vesicular eruptions on the right ear and unilateral sensorineural hearing loss.	false
+e71e9750e83e901a249949736618ffbae284e071	Keeping in mind that the expression of vascular permeability factor (VPF) in @DISEASE$ has been related to tumor angiogenesis and peritumoral @PHENOTYPICFEATURE$ (PE), the aim of this study is to investigate the correlation between degree of VPF expression by tumor cells, and degree of PE and vascular endothelial surface (VES) in glioblastoma.	false
+c7493e2e3715162c60ba2d8f662d9356afdcf7d9	Perivascular @PHENOTYPICFEATURE$ fluid pathway in @DISEASE$.	false
+075418766d253fd1d6008620e241fbec74b5171e	APQ4 expression increased in human @DISEASE$ and @PHENOTYPICFEATURE$ cerebral tissue.	false
+c08600fd9d3b302350b50d552b5c0852aa52f5bf	Progeria infantum (@DISEASE$) associated with @PHENOTYPICFEATURE$-like lesions and acro-osteolysis: a case report and brief review of the literature.	false
+ba38db2342319d16b9d5b67c07f53cdb22af2ea5	@DISEASE$ is a rare syndrome of premature aging with multiple @PHENOTYPICFEATURE$.	false
+86b95a43443023f1e89dc2efaa0eb3975cda96cb	@DISEASE$ (HGPS) is a rare, progressive segmental premature aging disease that includes @PHENOTYPICFEATURE$-like skin, progressive joint contracture, and atherosclerosis.	false
+b8159326a8c35441407e84fe5d3f613805c3c149	Hutchinson-Gilford progeria syndrome (@DISEASE$) is a rare, progressive segmental premature aging disease that includes @PHENOTYPICFEATURE$-like skin, progressive joint contracture, and atherosclerosis.	false
+8c3df40b98ce6a2f97e341aadaa2f77be3445882	@DISEASE$ accompanied by severe @PHENOTYPICFEATURE$ in two Chinese siblings: two case reports.	false
+76d83e7dd21173b992bd118aec643c5a7c80873b	We report the @PHENOTYPICFEATURE$ in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in @DISEASE$.	false
+53dbfe860275a30fe25aef1eff13d1833c177b43	Other mitochondrial diseases with cardiomyopathies include Barth syndrome, @DISEASE$, TMEM70-related mitochondrial complex V deficiency, and Friedreich @PHENOTYPICFEATURE$.	false
+daf237e88a313136e5975ae35bb8110f0e5666d3	@DISEASE$ and @PHENOTYPICFEATURE$: additional evidence of an association.	false
+64bda9dcb579d6019c28b284685c5d34132e4cac	A male with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1e66ae05fa1a49711e733f3d2532198cfdb18f87	De novo missense and frameshift mutations and deletions involving TBL1XR1 have been described in patients with intellectual disability and @PHENOTYPICFEATURE$, but without any of the dysmorphic findings or malformations associated with @DISEASE$, implying a mutation-specific mechanism for the pathogenicity of p.Tyr446Cys.	false
+576faa2cb5657ae6157e734e675b601c2ae64af1	However, @PHENOTYPICFEATURE$ is not present in individuals with @DISEASE$.	false
+c61e29bc26e837735afe780a35fc3c468d1500a1	Mutations of voltage-gated sodium channel genes SCN1A, SCN2A, and SCN1B have been identified in several types of epilepsies including @DISEASE$ (GEFS+) and severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+19992f20a772a740a64f1c92ffe63824424d3873	They generate a wide spectrum of phenotypes ranging from the relatively mild @DISEASE$ (GEFS+) to other severe epileptic encephalopathies, including @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), cryptogenic focal epilepsy (CFE), cryptogenic generalized epilepsy (CGE) and a distinctive subgroup termed as severe infantile multifocal epilepsy (SIMFE).	false
+a145a0f08abcccd9b7c15c3d60fe24aca2fa1244	Mutations of the voltage-gated sodium (Na(v)) channel subunit SCN1A have been implicated in the pathogenesis of human febrile seizures including @DISEASE$ (GEFS+) and severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+35bbdbc7b71eda464ef4543825b7f288cd4237d7	There was a significant phenotype-genotype relationship in @DISEASE$ and severe @PHENOTYPICFEATURE$ epilepsy of infancy with SCN1A missense mutations.	false
+565f2b941e4234e3064ec10c09bc939f1d636679	Thus, the pathomechanism of "channel trafficking abnormality" may provide a new paradigm to channelopathy to unsolved questions underlying epilepsy, such as differences between @DISEASE$ and severe @PHENOTYPICFEATURE$ epilepsy in infancy, which share the causative genetic abnormalities in the same genes and hence are so far considered to be within the spectrum of one disease entity or allelic variants.	false
+3a2ce8eb3c4c0acb502b2c38727ddd6a673d36ea	To date, truncation mutation has been found exclusively in patients with severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), although only missense mutations have been found in @DISEASE$ (GEFS+), partial epilepsy with FS+, FS+, and FS.	false
+403db859de5130dc9c051ccf9d3f2267c4f3a8f5	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including @DISEASE$ (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and benign familial neonatal-infantile seizures (BFNIS).	false
+a86db9434ae48adaec535b1cfe7c903cb4b3fbfc	Mutations in the neuronal voltage-gated sodium channel SCN1A are associated with a growing number of disorders including @DISEASE$ (GEFS+),(7) severe @PHENOTYPICFEATURE$ epilepsy of infancy, and familial hemiplegic migraine.	false
+383d1e34bf21e4c81a6646cfe3af59765528d3ce	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME), pure febrile seizures (FS), @DISEASE$ (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).	false
+4ecbebc33a2fc5e57c299143807e84e9482831a2	Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), @DISEASE$ (GEFS+), and Dravet syndrome (DS)/severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI).	false
+f189aa9afbc71f6b223d827eee0a4d6cca7c2378	Mutations in GABRG2 have been associated with simple febrile seizures and with genetic epilepsy syndromes, including childhood absence epilepsy, @DISEASE$, and Dravet syndrome or severe @PHENOTYPICFEATURE$ epilepsy in infancy.	false
+2e405213eccd4c320ac7d1d117f0323528ea5c06	Wilms' tumor is associated with several congenital syndromes such as WAGR (Wilms' tumor, aniridia, genitourinary malformation, @PHENOTYPICFEATURE$) syndrome, @DISEASE$, Beckwith-Wiedemann syndrome, etc.	false
+39c6f889b296c508720e2ba0c19d70ba19c10b18	One child, with the karyotype 46,XY, del(11)(p13p14), presented the full-blown WAGR syndrome with aniridia, @PHENOTYPICFEATURE$, Wilms' tumor, and pseudohermaphroditism, but also had proteinuria and glomerular sclerosis reminiscent of @DISEASE$.	false
+fd4e7660f262ecf5096ec8eb6525c9a8e13a167e	One child, with the karyotype 46,XY, del(11)(p13p14), presented the full-blown WAGR syndrome with aniridia, @PHENOTYPICFEATURE$, @DISEASE$, but also had proteinuria and glomerular sclerosis reminiscent of Drash syndrome.	false
+81f3acd4a1ddbf9715c7b51301b5484ef7acb5ca	The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant @PHENOTYPICFEATURE$ syndrome type 7 and @DISEASE$.	false
+b8021baa1bca8bd87ed4293cc514800114cddf65	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and @DISEASE$.	false
+e82ab81e68d08daef69289edbd0fccddc0a96fb9	Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and @PHENOTYPICFEATURE$), @DISEASE$, and Frasier syndrome (FS).	false
+24a112238d8ffb373d1889d54533c3367f4150db	Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, @DISEASE$ (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and @PHENOTYPICFEATURE$).	false
+b2b035e49e7896bfdcfcc443d5b5a3abb163d60b	Mutations in the WT1 gene causing Wilms tumors were first reported in WAGR syndrome (Wilms tumor, Aniridia, Genitourinary malformation, @PHENOTYPICFEATURE$) and @DISEASE$ (pseudohermaphroditism, Wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or WAGR syndrome WT1 mutations were identified.	false
+dd8290440a578c13c97227c5986f1d359b63c08e	These include WAGR (for Wilms tumor, aniridia, genitourinary anomalies, and @PHENOTYPICFEATURE$), and Frasier and @DISEASE$.	false
+e20eb762ed2a311a3482580653790f9bd8aa0eda	Of the 12 patients with a WT1 aberration, four had WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations and @PHENOTYPICFEATURE$), one had @DISEASE$, four had genitourinary anomalies without other syndromic features and three had bilateral disease with stromal-predominant histology at young age without congenital anomalies.	false
+e7a737aed522430e81fbc2b32d340d56f9832f42	DMS is a phenotypic expression of syndromic entities such as WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$), @DISEASE$, Pierson syndrome, Frasier syndrome, or Galloway-Mowat syndrome.	false
+775711baa19dc4c243e89828c36d5cbdf58f4597	Twenty pediatric patients with @DISEASE$ were found; all patients (38/40 ears) had inner @PHENOTYPICFEATURE$.	false
+1d3f75a7699c3af48d9c659688b7669c21591524	Four children with syndromic craniosynostosis (Crouzon's syndrome and @DISEASE$) developed irreversible @PHENOTYPICFEATURE$.	false
+035b053bd095ff4d93928db740b02898e3d9e617	@PHENOTYPICFEATURE$ occurred in 17 eyes of 11 patients with @DISEASE$, 14 eyes of 11 patients with Crouzon syndrome, and 12 eyes of 8 patients with other craniofacial synostosis syndromes.	false
+92777432c3633fd847b8fbf6aab07b1d82dba007	Inner @PHENOTYPICFEATURE$ and conductive hearing loss in children with @DISEASE$: an overlooked otologic aspect.	false
+188228fc7a417e928a0e5be74e290a450ed33f46	@DISEASE$ and hearing loss with @PHENOTYPICFEATURE$: a case report and literature review.	false
+2d7471a3bc8aeae041b70fb24be9a0a10a368330	@DISEASE$ (AML) is a @PHENOTYPICFEATURE$ collection of myeloid malignancies with diverse genetic etiology and the potential for intra-patient clonal evolution over time.	false
+23c01d32b7ff474a4e1f821cbbe55442dfd44455	A 59-year-old man undergoing chemotherapy for @DISEASE$ had a bilateral @PHENOTYPICFEATURE$ process.	false
+479ff5f2623a0a4d02fad36c1429f530954baff0	Patients with @DISEASE$/MDS are highly symptomatic and experience @PHENOTYPICFEATURE$ and fatigue before the initiation of their treatment.	false
+d8b5b8dc523a6acd56eece1eaa1427faea0717dd	@DISEASE$ (AML) has an overall poor survival rate and shows considerable molecular @PHENOTYPICFEATURE$ in its etiology.	false
+c0616fd905242b3087c128d8249f2ac29df0449b	We describe a case of dose-related @PHENOTYPICFEATURE$ in a patient with FLT3-mutated @DISEASE$ taking sorafenib and voriconazole that resolved following sorafenib dose reduction.	false
+9766f07268e006795bb2af1411f711094cd39553	@PHENOTYPICFEATURE$, fatigue, and cytokine levels in patients with @DISEASE$ or myelodysplastic syndrome.	false
+7bd488b420cbb057b22b1c3d74867bdcb6c62577	We have described a patient with fatal Scopulariopsis @PHENOTYPICFEATURE$, a previously unreported infection, complicating immunosuppressive therapy for @DISEASE$.	false
+70a6ce5a4256e4469196943bf5b3fb6a1c0dda33	Seventeen years after transplantation, he presented with @PHENOTYPICFEATURE$, anaemia and a retroperitoneal haematoma, the latter caused by renal @DISEASE$ bleeding.	false
+ef95f10f7c594edecfafabef52f6845a63a82ed4	@DISEASE$ (AML) is a clinically and molecularly @PHENOTYPICFEATURE$ disease.	false
+83dfaea13b804e4fd858ed45b52e6dba180eb1e7	Children with @DISEASE$ and CRT had no significant @PHENOTYPICFEATURE$ in standardized tests when compared to non-irradiated patients.	false
+7188d7495fce176c19166656cd6a16ee4b46761d	Then, we studied the CT brain scans before and after ACTH-Z therapy for infantile spasms, atonic seizure or @DISEASE$ and showed some relationship between apparent @PHENOTYPICFEATURE$ on the CT brain scans and ACTH-Z treatment.	false
+8de40c403f4fc85da2d3e9b54d5f36d9aae8b743	Generalised seizures, including atypical and @PHENOTYPICFEATURE$, atonic and tonic seizures and @DISEASE$ are most responsive.	false
+6ba73f7bcc6396834f1643dbf4c49bc960066d1b	Dose-response effects were measured in four different models: (1) the maximal electroshock test, which models human tonic-clonic seizures; (2) the subcutaneous pentylenetetrazole test, which models human @PHENOTYPICFEATURE$; (3) the amygdala kindling test, which models human complex partial seizures with secondary generalization; and (4) the AY-9944 test, which models chronic atypical absence seizures, a component of the @DISEASE$.	false
+afa9e09f2c0a5db5760aa7a1dd029248caa088d7	The guidelines address both epileptic encephalopathies (West syndrome, @DISEASE$, and Dravet syndrome) and idiopathic epilepsies (@PHENOTYPICFEATURE$, epilepsy with centro-temporal spikes and juvenile myoclonic epilepsy).	false
+8df3d041ac9889f58d6c97105cc8fad78ba809eb	In case of therapy failure cannabinoids, as part of an individual therapeutic attempt, may be considered for the treatment of chronic pain (neuropathic pain, cancer @PHENOTYPICFEATURE$, non-neuropathic noncancer pain), cachexia in human immunodeficiency virus as well as for Dravet and @DISEASE$.	false
+9646c01e86508bbb9098c8bf1ecce63c25727493	A second section approaches the choice of treatment according to the specific syndromes including infantile spasms, focal epilepsies, syndromes with @PHENOTYPICFEATURE$, the myoclonic epilepsies and the @DISEASE$.	false
+6d7aa3b3ffc559c55ed5e580fb6b22e2321289ec	In our recent experiments, acetone was found to be active in animal models of tonic-clonic seizures, @PHENOTYPICFEATURE$, complex partial seizures, and atypical absence seizures associated with @DISEASE$.	false
+b97ee3325f2484eb93f7ed2ac799bce5995b879c	The corresponding recommendations are: in @PHENOTYPICFEATURE$, valproate, ethosuximide and lamotrigine; in atypical absences, valproate and lamotrigine; in juvenile myoclonic epilepsy, valproate, lamotrigine and clobazam; in infantile spasms vigabatrin, ACTH and valproate; in @DISEASE$, valproate, lamotrigine and vigabatrin; in atonic seizures, valproate and lamotrigine; in simple and complex partial seizures with or without secondary generalization, oxcarbazepine/carbamazepine, valproate/ vigabatrin and lamotrigine; and in status epilepticus lorazepam, diazepam and clonazepam together with phenytoin or fosphenytoin.	false
+5b03e69281e34f4a2488aee8e3fe45962af89ce1	@DISEASE$ (BS) is a rare autosomal recessive genetic disorder characterized by lupus-like @PHENOTYPICFEATURE$ facial telangiectasia, sun sensitivity, infertility, stunted growth and a high predisposition to various types of cancer.	false
+f68237a0bb59ff1434124a7136c40b0faa3d2940	@DISEASE$ is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop various malignancies.	false
+a143bbdeaaff7e0fe45cbd64155bac160cf22847	Lenz-Majewski syndrome (@DISEASE$) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - @PHENOTYPICFEATURE$.	false
+9472c2495f8eeb79fad918498bbd32e32b49fa31	Lenz microphthalmia syndrome (@DISEASE$) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+3ea71a16f9ae0eda83b8dbdaca8ac4664b47db8d	@DISEASE$ (AP) is a rare congenital anomaly that usually presents in childhood with symptoms referable to duodenal obstruction; nonetheless, this condition can manifest in adulthood with @PHENOTYPICFEATURE$, pancreatitis, duodenal ulcer, pancreatic head mass.	false
+3f7fea761d428bf18e817d20c4073b7b893e6816	@DISEASE$ (AP) is a rare congenital anomaly, usually present in childhood, with symptoms due to duodenal obstruction; however, this condition can manifest in adulthood with @PHENOTYPICFEATURE$, pancreatitis and pancreatic head mass.	false
+000aa7341250c605b9454bbad90eaf3cd1013846	@PHENOTYPICFEATURE$ from 204 smokers with non-small cell lung cancer (NSCLC) were analyzed for mutations in exons 5-8 of the p53 gene and genotypes of @DISEASE$ and XRCC1.	false
+49f79397eaf88e0a2e556a6045673e19f773ba9c	Influence of common @DISEASE$ and XRCC1 variant alleles on p53 mutations in @PHENOTYPICFEATURE$.	false
+1b471cd14d22e01cd1b07abdc8941dd855774771	Functional polymorphisms in @DISEASE$ (Asp312Asn, rs1799793 and Lys751Gln, rs1052559), a protein required for nucleotide excision repair and with roles in p53-mediated apoptosis, were modestly associated with G:C-->T:A mutations in TP53 in @PHENOTYPICFEATURE$ [Asp/Asn312 + Asn/Asn312 and/or Lys/Gln751 + Gln/Gln751 versus Asp/Asp312 + Lys/Lys751; odds ratio (OR) 2.73, 95% confidence interval (CI) 0.98-7.61],	false
+c759b74a905e75610bea0a8bc0af30d2c826a567	Previous studies have suggested that certain genetic polymorphisms, specifically the Xeroderma pigmentosum group D (@DISEASE$) gene codon 751 and the X-ray repair cross-complementing group 1 (XRCC1) gene codon 399 polymorphisms, were associated with an increased risk of lung cancer, and, in some studies, with a greater risk for mutations in the p53 tumor suppressor gene in @PHENOTYPICFEATURE$.	false
+4bbe1145663e1306a68e8a938af188e8156ee68f	We conclude that the @DISEASE$ variant alleles may be associated with an increased frequency of smoking-related p53 mutations in @PHENOTYPICFEATURE$, presumably due to reduced DNA repair proficiency.	false
+dddc8b401590701c60d02ac55d7c84bd89e7619c	These studies resulted in various levels of correction of the disease phenoypes in small and large animal models of @DISEASE$ (F.IX deficiency), muscular dystrophy, @PHENOTYPICFEATURE$, age-related atrophy, and beta-thalassemia (8,12,13,15,17,18,20-25).	false
+d9d862ea5230fa23d52f0add89957629d230629f	@PHENOTYPICFEATURE$ in a patient with @DISEASE$ and a normal creatinine level.	false
+3b2ff18f18610cfa1f5d5a9c70662a69d7feac21	Patients with @DISEASE$ could have severe muscle weakness from the hyperkalemia and could have @PHENOTYPICFEATURE$ even with a normal creatinine level.	false
+86bd7bad9e226983f52665b6b24428b1024b82df	The aim of this study was to assess echocardiographically the occurrence of @PHENOTYPICFEATURE$ in patients with acute @DISEASE$ (ReA).	false
+f73240dc47a14a15f031bb3ba240d306e12118de	Central nervous system complications, including brain swelling, @PHENOTYPICFEATURE$, brain abscess, subdural empyema, or subdural effusion (using computed tomography) and cerebrovascular involvement (using cerebral angiography), systemic complications, including septic shock, disseminated intravascular coagulation, adult respiratory distress syndrome, or septic or @DISEASE$, and typical complications arising during intensive care therapy.	false
+9209a7d89bec006eb7eb7a5eae15b9bb0430cc03	Most patients have no associated disease, except @PHENOTYPICFEATURE$, but young men should be carefully evaluated for ankylosing spondylitis or @DISEASE$.	false
+33b401c99f7f05184273017f48518ebef40858bd	pseudomembranous colitis, inflammatory bowel disease, type 1 diabetes, atopic diseases, @PHENOTYPICFEATURE$, @DISEASE$.	false
+a40a1156a514a9d442da50aeccc99fc4b68a5acf	Our investigations showed endothelium's malfunction and changes of the cardiac valves in patients with @DISEASE$, which could be precondition of the @PHENOTYPICFEATURE$ development in these patients.	false
+da58d237229fa2676b4ec0a5ed0b485a1e4e5fff	Postdysenteric @DISEASE$ and the arthritis associated with jejunal bypass surgery for @PHENOTYPICFEATURE$ suggest that the gastrointestinal tract is a possible source of bacterial products capable of initiating chronic inflammatory arthritis.	false
+bf05330b86cc043cba496c67f9e9e9bfe9960e24	Recent infection, but not the mechanical factors cough, sneezing, or @PHENOTYPICFEATURE$, was independently associated with @DISEASE$ in multivariate analysis.	false
+42514670515c683166e4b91143ac03390f7a6739	HTN and @DISEASE$ are independent risk factors for the development of intracranial @PHENOTYPICFEATURE$.	false
+2224b35e2c2d58b0204f976c5444d2bb89f3f760	Recent studies have shown @PHENOTYPICFEATURE$ between @DISEASE$ patients with sufficient and insufficient collateral vessels.	false
+f6ca263b7eafda96926b6c216230f982b25cc26d	After adjustment, five @DISEASE$ were significantly associated with @PHENOTYPICFEATURE$ (OR 0.33-0.65,	false
+d2b2a7cc22813dce0f101fd0ed0fb55dc8e498a6	@DISEASE$ @PHENOTYPICFEATURE$ and Tubercle.	false
+255c188eef3aaee0d991cc3f77e9aaa2c7725706	presented cerebral complications: hydrocephalus 20 cases (71.4%), ventriculitis 5 cases (17.9%), abscess and ventriculitis 2 cases (7.1%) and @PHENOTYPICFEATURE$ 1 @DISEASE$ (3.6%).	false
+22aebba67a0ef4fbc814e3cda293734c3e0080dc	Search terms included: ED combined with coronary artery disease (@DISEASE$), metabolic syndrome and @PHENOTYPICFEATURE$, hypogonadism and ED, hypogonadism, ED and mortality.	false
+adf0343d097258379aec312fb531c080845de7df	The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, @PHENOTYPICFEATURE$ or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+5e6f8e42971db93d4ff9d4b96c8bf63eb1b7b3f2	The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, @PHENOTYPICFEATURE$ or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+cc8032f975360e5359897249887664220c21e590	The first signs are gastro intestinal symptoms (recurrent nausea, @PHENOTYPICFEATURE$ or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+dd5e02ed4dac2fb292e490f300ee913e41685e07	Multivariate analysis showed HTN and @DISEASE$ are independent risk factors for intracranial @PHENOTYPICFEATURE$.	false
+d843bf0acd918f0bf32463c174a1c351abc52548	@DISEASE$ @PHENOTYPICFEATURE$ was diagnosed in 8.4% of all patients treated for tuberculosis in 1977, while in 1991 this proportion was 14.5%.	false
+0e6cabf61d86ac195e14ebc926e1956f13de3950	CR3/108--@DISEASE$ with familiary @PHENOTYPICFEATURE$.	false
+8e30239ca35122b3b78337903381c695cb6cdafa	Profound @PHENOTYPICFEATURE$ and pulmonary hypertension in a 7-month-old infant: late presentation of @DISEASE$.	false
+2299a004555a22d948a36470220b532b9275ab20	MO is also known to be associated with arthritis, general @PHENOTYPICFEATURE$, scarring and occasional malignant transformation of osteochondroma into secondary peripheral @DISEASE$.	false
+df9a34ef554a7629a462605ce60cae863855b585	Normal examination results were more common in patients with chordoma, whereas @PHENOTYPICFEATURE$, facial numbness, and multiple cranial neuropathies were more common in patients with @DISEASE$.	false
+7f36611cc8770c060a87434303f5638056797263	We report a case of a 45-year-old female patient with pelvic @DISEASE$ who underwent surgical treatment and started to present @PHENOTYPICFEATURE$, systemic inflammatory response syndrome (SRIS), cardiac insufficiency, hepatosplenomegaly, cholestasis as well as pulmonary bleeding suggesting a sarcoma-associated vasculitis.	false
+6ce7736983ddd444b0c9b23fd41b5e9477b85528	Twenty-five (52%) of the patients with chordoma and 24 (49%) of the patients with @DISEASE$ had ocular symptoms (diplopia or @PHENOTYPICFEATURE$) as the initial manifestation of the disease.	false
+7217ecf053a5fd000b4b54f52fbfb9fd1349c842	Nasal septal @DISEASE$ with @PHENOTYPICFEATURE$.	false
+9e7cb2688e28542ceb83dab90ff27eabf208b2d9	About half of the patients were referred to our facility with the diagnosis of hypothyroidism; presenting features in the rest of the patients included galactorrhea, menstrual irregularities, learning @PHENOTYPICFEATURE$, short stature, precocious puberty, @DISEASE$, headaches, visual field defects, and dry ichthyotic skin.	false
+f48c7ca033fcb3aea89310d26d07f270d6b6d806	His features included a distinctive facial appearance, cleft palate, @PHENOTYPICFEATURE$, @DISEASE$, keloid scarring, immune dysregulation, and mild learning difficulties.	false
+981bb91fa9b9b02bb309f8b66b7cef1fa169412a	Maternal reports of drugs taken during the first trimester of pregnancy were classified with respect to nitrosatability for mothers of 741 babies with limb deficiencies, 2774 with @PHENOTYPICFEATURE$ malformations, 8091 with @DISEASE$, and 6807 without major congenital malformations.	false
+8037b6ee6a88837ad0ac07f4e064e2b0aeea25c6	The study included 18 healthy children and 9 children diagnosed with @PHENOTYPICFEATURE$ secondary to @DISEASE$.	false
+872208d67211fef6e9546c7d0bb221401757b591	deletion often include @DISEASE$, palatal anomalies, immunodeficiency, @PHENOTYPICFEATURE$, and developmental delay or learning disabilities.	false
+afd437db55fc17cfc6703d11d5ebf7e6e64b7470	CHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, growth delays, @PHENOTYPICFEATURE$-blindness, balance disorders and @DISEASE$.	false
+bf026df9c3053903215000cb704f576f3ea67950	CHARGE is a multiple congenital anomaly disorder and a common cause of pubertal defects, olfactory dysfunction, @PHENOTYPICFEATURE$, deaf-blindness, balance disorders and @DISEASE$.	false
+9b2bc5bf7cea981eb5f0a7040da779ca42f580bc	@PHENOTYPICFEATURE$ communis is a @DISEASE$, which is usually repaired in the neonatal period or early infancy.	false
+16aa5003ef491f04da150a0597e93d2e7ad164e0	The incidence of various @DISEASE$ was not significantly different among these groups, suggesting that factors in addition to @PHENOTYPICFEATURE$ must be considered in the pathogenesis of nonimmune hydrops fetalis.	false
+85691cff490902f94f45d1ef5aed6b251f597015	Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, @DISEASE$, ocular @PHENOTYPICFEATURE$ loss and a characteristic facial appearance.	false
+0e152c121873f25d37c8a7458a5c7befbc524f84	The association between isolated @PHENOTYPICFEATURE$ and consanguinity was examined in 759 Lebanese patients with different types of @DISEASE$.	false
+5c869d5b1b84586d8b11360a66a359d5c2bf60cb	Persistent @PHENOTYPICFEATURE$ accounts for only 1.2-3% of all @DISEASE$.	false
+6ab041c0b5a6089b097c0e4eb99de9b2786959a7	Rheumatic fever, @DISEASE$, systemic lupus erythematosus, ankylosing spondylitis/spondyloarthritides, juvenile @PHENOTYPICFEATURE$, juvenile dermatomyositis/polymyositis, Kawasaki disease and other autoimmune vasculitides are the commonest pediatric systemic autoimmune diseases with heart involvement.	false
+43f29d1b5a736d0826d9b0c9c15627a01627922b	[A case with @DISEASE$ who developed cerebral vasculitis and venovascular @PHENOTYPICFEATURE$].	false
+eb3624978acc7481c9f1368da7edb26de1ee6081	Our cohort of patients included 84 with @DISEASE$ (JIA), 21 with systemic lupus erythematosus (SLE), 6 with systemic vasculitis, 2 with juvenile @PHENOTYPICFEATURE$, 2 with idiopathic uveitis, 1 with mixed connective tissue disease and 1 with SLE/scleroderma overlap syndrome.	false
+3c8a99118f4c3b49de2edd97279e9124b095dbab	To assess nailfold capillaroscopy in children and adolescents with autoimmune rheumatic diseases (@DISEASE$, systemic lupus erythematosus, juvenile dermatomyositis, @PHENOTYPICFEATURE$ and mixed connective tissue disease) and relate it to clinical and laboratory findings and disease activity.	false
+773293e112fc09d779e47d5840837abefa1351d5	Many diseases such as asthma, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$ and attention-deficit hyperactivity disorder develop during childhood.	false
+7979c86d7979c8e78142e41956d73493af62fd61	A total of 237 patients with juvenile ARD [juvenile systemic lupus erythematosus (JSLE), @DISEASE$ (JIA), juvenile dermatomyositis (JDM), juvenile @PHENOTYPICFEATURE$, and vasculitis] and 91 healthy controls were vaccinated.	false
+aa56591104fb9b277ed0069a1a354ddd1cae8370	The disorders reviewed are @DISEASE$, systemic lupus erythematosis, Wegener's granulomatosis, juvenile dermatomyositis, juvenile @PHENOTYPICFEATURE$ and autoinflammatory syndromes.	false
+c1c2b4c2194e41e21fc5a9249d36fe20892ab3cd	The aim of this work is to describe characteristic inflammatory changes present on X-ray imaging typical for the most commonly diagnosed rheumatic diseases in children, such as @DISEASE$, systemic lupus erythematosus, systemic @PHENOTYPICFEATURE$, mixed connective tissue disease, juvenile dermatomyositis, juvenile spondyloarthropathy and systemic vascular disease.	false
+2271d0e13babf843c7590320c060bbb3e7d710e1	Many diseases with complex etiologies originate during childhood (e.g., asthma, @PHENOTYPICFEATURE$, attention deficit/hyperactivity disorder, epilepsy and @DISEASE$) and persist into adulthood.	false
+d58c35083ff78413a03f345f30386583a46b1cf9	At this time SHRINE implementations have been used for multi-site studies of @PHENOTYPICFEATURE$ co-morbidity, @DISEASE$, peripartum cardiomyopathy, colorectal cancer, diabetes, and others.	false
+184ff6f64c950777e79b0a15d281aa3a425be371	[@DISEASE$ (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and @PHENOTYPICFEATURE$--a first Japanese case].	false
+334fcfb07f0bf13f5bad197e20ee8164259a81a2	[Occipital horn syndrome (@DISEASE$) with severe psychomotor retardation and @PHENOTYPICFEATURE$--a first Japanese case].	false
+d31b139f6dde857a0de8cfba5bf483d5bdac9d4f	Although most of the painful injuries that children sustain in recreational activities are mild, back pain that lasts for extended periods may be due to various disorders, including spondylolysis and spondylolisthesis, disk herniation, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+8f508bdb53adab22ed73c31b82520c7c4dfc7f85	The etiology was @PHENOTYPICFEATURE$ (n?= 3), metabolic disorders (n?= 2) (@DISEASE$), Alagille syndrome (n?= 1), and neonatal ductopenia (n?= 1).	false
+1bd30e2d42ef4c254a7ff899fb6590df3230e653	Recipients (ages 18-68) suffered from cirrhosis secondary to viral etiology (18), hepatocellular carcinoma with viral cirrhosis (24), cystic fibrosis (2), primary biliary cirrhosis (2), hepatocellular carcinoma with non-viral cirrhosis (2), alcoholic cirrhosis (1), @DISEASE$ (OTC), (1) criptogenic cryptogenic cirrhosis, (1) primary sclerosing cholangitis, (1) @PHENOTYPICFEATURE$ and metastatic carcinoid (1).	false
+f4a84a1eb2d39346bec35254c55809d94a71d3d9	Nodular @DISEASE$ mimicking cutaneous @PHENOTYPICFEATURE$.	false
+f8336d0fb1516d825e1f85cc9b66d961c8034ae0	The @PHENOTYPICFEATURE$, pre-auricular sinus, external ear anomaly and @DISEASE$ syndrome--otological, vestibular and radiological findings.	false
+8e9a2c15becc872b329cf8d3d6d6b585e4e58237	Congenital conductive or mixed @PHENOTYPICFEATURE$, preauricular sinus, external ear anomaly, and @DISEASE$: an autosomal dominant inherited syndrome.	false
+fd4021d5cc6e571e1876f11fce98f5e1f44bc9ff	Some patients with a history of @DISEASE$ develop a chronic symptomatology characterized by @PHENOTYPICFEATURE$, fatigue, and pain, despite antibiotic treatment.	false
+304cd98a67f2ce21555cfcc8d80d26cb46af3741	Cranial neuropathy, long tract signs, sensory disturbance, and/or @PHENOTYPICFEATURE$ can be related to a number of different processes such as illicit drug use, neurosarcoidosis, neuro-Behcet's disease, @DISEASE$, HIV-related disease, neurosyphilis, vascular occlusive disease including vasculitis, connective tissue disorders, acute disseminated encephalomyelitis (ADEM), idiopathic transverse myelitis, neuromyelitis optica (NMO), or tropical spastic paraparesis.	false
+a780955144fb3a5818652ae2a5730fd079718a05	We used a selection of FH19-20 point mutants to reveal the binding sites of several microbial proteins and whole microbes (Haemophilus influenzae, Bordetella pertussis, Pseudomonas aeruginosa, Streptococcus @PHENOTYPICFEATURE$, Candida albicans, Borrelia burgdorferi, and @DISEASE$ hermsii).	false
+4f1e691c3ded3e884e31fdc5aa338cb8044ca507	We conclude that the patients with @DISEASE$ sometimes present vertigo/dizziness, but rarely @PHENOTYPICFEATURE$ as a sole symptom.	false
+7429f550a2a0eeb1ee4bfbfbb8be6a11d47820ba	Among the best known are HIV/AIDS, peptic ulcer caused by Helicobacter pylori, Legionnaires' disease, borreliosis (@DISEASE$), @PHENOTYPICFEATURE$ C, gastroenteritis caused by rotavirus, and Ebola haemorrhagic fever.	false
+25f63962f95835bb3bbf95d105c73c53090f1b54	[Chronic @DISEASE$ with @PHENOTYPICFEATURE$ and cognitive disorders].	false
+46f26434292f8397365f18331ab40ff4ea574009	An increased frequency of @PHENOTYPICFEATURE$ was observed in patients with @DISEASE$, particularly in females.	false
+17af1948d33208a3f1f4247ae9815ee8cd46e9ff	Neurologic sequelae, including @PHENOTYPICFEATURE$, after childhood tick-borne encephalitis (TBE) and @DISEASE$ (NB) are not well-characterized.	false
+081f4323a8634148e5fbc42dbe0c91556831e86e	In patients with @DISEASE$, cervical spine dislocation, spinal cord compression and @PHENOTYPICFEATURE$ were diagnosed by MR.	false
+82031e0dbe05b18525a61482849308434b76cf78	We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from @DISEASE$, mandibuloacral dysplasia, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Hajdu-Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.	false
+f4f85455ac4d1c58fb1132f6ee20d6b389fd7575	@DISEASE$, infectious rhinitis, bilateral lacrymo-nasal cyst and nasopharyngeal @PHENOTYPICFEATURE$ were diagnosed, and associated with respiratory distresses or difficulties in feeding.	false
+dc810a7952165e3c7f959e48297ea8c66aee4deb	Obstructive @PHENOTYPICFEATURE$ associated with congenital @DISEASE$.	false
+e5a93d184857b31279f9c9b1b550567f691b74f5	The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-@PHENOTYPICFEATURE$, dental-aberrant cusp morphology and delayed eruption, auricular-malformations of the external ear, and skeletal-@DISEASE$.	false
+6a003b370843c7e7f3bc95984fecb38dcd76e0b4	We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of @DISEASE$, craniosynostosis, @PHENOTYPICFEATURE$, cleft palate, and mental retardation.	false
+79577bcaa9976069dff97798179a815d19323de1	We report here that an autosomal dominant form of Stickler syndrome, characterized by mild @DISEASE$, osteoarthritis, and @PHENOTYPICFEATURE$, but no eye involvement, is caused by a splice donor site mutation resulting in "in-frame" exon skipping within the COL11A2 gene, encoding the alpha 2(XI) chain of the quantitatively minor fibrillar collagen XI.	false
+491fa77f4b922f301d8a7bca3fe4e3359a4c13d0	Previously undescribed @DISEASE$ associated with craniosynostosis, @PHENOTYPICFEATURE$, cleft palate, and mental retardation: report of four sibs.	false
+57b4cb7cd9bf5c3fe93d37e17bdeaee54f490056	Skin @PHENOTYPICFEATURE$ was induced by the single-envelope CFL in the following cases: 16 of 53 @DISEASE$, seven of 52 polymorphic light eruption, five of nine solar urticaria, one of two actinic prurigo, one of one erythropoietic protoporphyria and two of 20 healthy subjects.	false
+cd85dc47f29e02f2420d25760233599141f2fb6f	Macrocephaly-@DISEASE$ (M-CMTC) constitutes a distinct entity characterized by prenatal @PHENOTYPICFEATURE$, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly.	false
+f55a479a4e8271e42599b2dee8a7e4866b87efd1	Macrocephaly-@DISEASE$ (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive @PHENOTYPICFEATURE$, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly.	false
+b4dece07ddea7c36b0aa2e42527d280b63291188	In contrast to most children with CMTC, patients with M-@DISEASE$ syndrome have a high risk of neurological abnormalities, such as @PHENOTYPICFEATURE$, megalencephaly, developmental delay and mental retardation.	false
+7281334dbf8d946f1e0ea81e62599e88c24ac82d	@DISEASE$ (CMTC) is a cutaneous disorder often accompanied by additional anomalies, most commonly segmental @PHENOTYPICFEATURE$.	false
+a8986ead9d05473d072b8f3127351916b2a4377f	Macrocephaly-@DISEASE$ is a rare overgrowth syndrome commonly associated with @PHENOTYPICFEATURE$.	false
+e1871c9146b29cf8699e25218f6ee58a2a6536b1	A targeted Coch missense mutation: a knock-in mouse model for @DISEASE$ late-onset hearing loss and @PHENOTYPICFEATURE$.	false
+72712b87ccec02f11756cb3e8f665f3732039145	Pathogenic variant in COCH are a known cause of @DISEASE$ autosomal dominant progressive hearing loss and @PHENOTYPICFEATURE$ with adult onset.	false
+d72a2b574fb3b172b5637e5faf6dbaa711486d54	Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in @DISEASE$ deafness and @PHENOTYPICFEATURE$.	false
+b0258a7877a924cd473fffc59d7381d3ebc8381f	Dominant progressive hearing loss and @PHENOTYPICFEATURE$ @DISEASE$ is caused by mutations of the human COCH gene.	false
+87b671e386dafd1293fc5de6d81aaca2935993c6	Three of the five children had @PHENOTYPICFEATURE$ associated with @DISEASE$p syndrome, or minimal change myopathy.	false
+d0b17c4b0b978308b65c35fae21d9b7718578402	We report the clinical features and array CGH findings of three @DISEASE$ patients who had severe @PHENOTYPICFEATURE$, early-onset developmental delay, postnatal microcephaly and hypotonia.	false
+b3e40d204929ba9c88ffdff7dcd5d1e1e2993674	This is the first report of IBGC with bilateral and symmetrical @PHENOTYPICFEATURE$ accompanied by @DISEASE$ resulting in end-stage renal failure.	false
+482dc02b6d3bca9178618d5310ec7d2d8f7d0683	Kimura's disease presenting with a giant suspensory @PHENOTYPICFEATURE$ and associated with @DISEASE$.	false
+3530b687043877962e213a5d7222499fd58c2338	One patient with PAN showed renal @PHENOTYPICFEATURE$ and @DISEASE$ (MPGN) and was HBV and ANA positive.	false
+91eceedf02f2ed3e69d5b04b633053172a884d4b	Of the 22 patients who developed glomerulonephritis in the transplanted kidney, 6 had recurrent disease (3--membranous glomerulopathy, 2--focal sclerosis and hyalinosis, 1--@DISEASE$); 6 developed de novo @PHENOTYPICFEATURE$; and in 10 the type of glomerulonephritis could not be classified as recurrent or as de novo because of lack of characterization of the original kidney disease.	false
+67653da418b82401917c1f9070c458d5138b94a1	@DISEASE$ associated with a mutation in Wilms' @PHENOTYPICFEATURE$ suppressor gene 1.	false
+409d6840339ba4ea88783c0067e86ef411403960	In the other patient (case 2), @PHENOTYPICFEATURE$ and seizures developed in the setting of previously documented mixed cryoglobulinemia (type II), @DISEASE$, and hypocomplementemia.	false
+53fbbdf2ecabef3071a37144d6f6b387d84c6ad5	Pathological diagnoses found were tubular injury in 5 patients, @DISEASE$ in 5 patients, nephrosclerosis in 3 patients, diabetic nephropathy in 2 patients, immunoglobulin A (IgA) nephropathy in 2 patients, minimal change disease in 2 patients, end-stage renal disease in 2 patients, nonspecific changes in 1 patient, early @PHENOTYPICFEATURE$ in 1 patient, tubular atrophy only in 1 patient, and normal renal histological characteristics in 4 patients.	false
+66c073d563adddbaf4eca0943345ef879b24edff	Membranous glomerulonephritis (MGN) is the most common glomerular disease associated with malignant solid @PHENOTYPICFEATURE$; the association of @DISEASE$ (MPGN) with solid tumour is still uncommon.	false
+2dd2c5a59a3c9efd6c9a663b19abb1b3c9b71584	Membranous glomerulonephritis (MGN) is the most common glomerular disease associated with malignant solid tumour; the association of @DISEASE$ (MPGN) with solid @PHENOTYPICFEATURE$ is still uncommon.	false
+3828d3a0341bc68abd917398aaaeff84c35cc07a	Here, we report on a girl with a mutation in WT1, who developed @DISEASE$ (MPGN) 3 years after completion of treatment for Wilms' @PHENOTYPICFEATURE$.	false
+a4dd7cbe652c92324a76a17aafb28e666775f878	During conservative surgery, the patient underwent renal biopsy that showed renal @PHENOTYPICFEATURE$ and @DISEASE$ with intracapillary microthrombi.	false
+e0531bddb4d333e1f7b662b32b4ffa5b678cabed	Motor and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e016533948d2d53c2891ae19822bd095686026c1	Purpose To test the hypothesis that children with @DISEASE$ and @PHENOTYPICFEATURE$ are at risk for co-occurring strength and coordination disorders.	false
+52bdd814cb5a4e4f8e09f3468ee407fc90e5ffed	We describe a 9-year and 10-month-old white boy whose clinical features resemble the @DISEASE$ (ichthyosis, brittle hair, @PHENOTYPICFEATURE$, and short stature), but who also has marked axial osteosclerosis and peripheral osteopenia.	false
+51e4faf04ed40988172dfef711c2114f663f70ed	Both disorders are Mendelian mimics of @DISEASE$ with overlapping features, including leukoencephalopathy, white matter alterations, @PHENOTYPICFEATURE$, delayed psychomotor development, intelligence disability and seizures.	false
+335d9311eca3733849d5af66020031bfce2307bb	@PHENOTYPICFEATURE$ in an infant with @DISEASE$.	false
+9464b0ab343930214c47460ffe7499f12447787c	Moreover, we propose that the finding of @PHENOTYPICFEATURE$ and myelination delay in association with diffuse lissencephaly or cortical dysplasia should suggest the diagnosis of @DISEASE$.	false
+7dfee03d824ebbd7f2102b7c880dbe735c2ea560	@PHENOTYPICFEATURE$, microcephaly, and intrauterine growth restriction: a telltale sign of @DISEASE$.	false
+6627588c37c6d1e18fd1299ce6df8276052b571c	The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation @PHENOTYPICFEATURE$, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after @DISEASE$.	false
+3d16d59c8793e813f05f3e4e949bcc608fba590e	@PHENOTYPICFEATURE$, periosteal proliferation and microcephaly, which represent the clinical features of the @DISEASE$, can also be seen in a rare disorder named Raine syndrome.	false
+5344f9070c0ef7f743c74f6a7753a87fc4bc8526	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+9a9e99839f816794cf4395211e10c28e74df76f4	The infants were born with typical symptoms of multisystem disease, known as symptomatic @DISEASE$ (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and @PHENOTYPICFEATURE$) and congenital rubella syndrome (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+9353c7df93a2c16e379f1ca7abd3619e181d1662	The neonate had distinct signs of @DISEASE$ including petechiae, jaundice, @PHENOTYPICFEATURE$, cerebral ventriculomegaly and chorioretinitis together with hypertrophic cardiomyopathy.	false
+6d4dfc7ccc561ca1ba0d218c4df997a122dc954d	In a previous study, we detected a c.435_438delCCGG TFAP2B mutation in a family with @DISEASE$, and no @PHENOTYPICFEATURE$ or finger abnormalities were observed.	false
+67cc5da9629dbe36e2c473ca6697683437b8da45	Oral, facial, digital, @PHENOTYPICFEATURE$ with psychomotor delay: a mild form of @DISEASE$ type Gabrielli?	false
+aa6673bf94ab225feac5946eb26316d96796366c	Based on the literature and this study we suggest as diagnostic criteria for @DISEASE$ VI: MTS and one or more of the following: 1) tongue @PHENOTYPICFEATURE$(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.	false
+d79fc8d504ec208f6d885f5e033ba934c1649af3	Oral-facial-digital syndrome type VI (@DISEASE$ VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue @PHENOTYPICFEATURE$ (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma.	false
+6d3b182ee08bc6aa71101d421b599627866ae259	The @DISEASE$ is characterized by a group of risk factors such as @PHENOTYPICFEATURE$, atherogenic dyslipidemia, hypertension, and insulin resistance.	false
+1949ffda4b1bb9c354549107af2fc881d760074d	Hypertension is commonly accompanied by @PHENOTYPICFEATURE$, hyperlipidemia, and insulin resistance in humans, a cluster of abnormalities known as @DISEASE$.	false
+7711f2cbcae7059f1b25f17a3e7a4921edd55e80	The combination of the independent risk factors for erectile dysfunction, @PHENOTYPICFEATURE$, hypertension, and diabetes are manifested collectively in a condition known as @DISEASE$.	false
+4e15341c94bfe3463e85bba685260d408a436e15	The incidence of @PHENOTYPICFEATURE$, type 2 diabetes mellitus and @DISEASE$ is increasing, and the cause(s) for this increasing incidence is not clear.	false
+a7522364850dc3f1f9baf9412546cb0cf2c590f8	Our data suggest that IGF-I treatment alleviates hyperphagia, @PHENOTYPICFEATURE$, hyperinsulinemia, hyperleptinemia, and hypertension in rats programmed to develop the @DISEASE$.	false
+bfcfad3d16bd533612d33d309339bfff1c309929	We found that hypertriglyceridemia, the main dyslipidemia of @DISEASE$, is in part responsible for the leptin resistance seen in @PHENOTYPICFEATURE$.	false
+bdf383ef17e771deee03307f740d78a77514a36e	Hypothalamic-pituitary-adrenal axis function and the @DISEASE$ of @PHENOTYPICFEATURE$.	false
+6fb89b918085559a6ad1ef9f14fc58311e9189ab	Aside from @PHENOTYPICFEATURE$, patients with lipodystrophic diabetes have the other features associated with @DISEASE$, including hypertension and dyslipidemia.	false
+3d0347f168c70ab02be88bfd5f0ab881f78a595d	The author exposes the present concept of @DISEASE$, which is a complex of Type II diabetes, @PHENOTYPICFEATURE$, hypertension and vascular problems.	false
+c398dbfba23e4ec1e079e86ce1f83667649841ce	The combination of independent risk factors for erectile dysfunction, @PHENOTYPICFEATURE$, hypertension, and diabetes are collectively manifested in a condition known as @DISEASE$ (MSX).	false
+75aae6d0d83b765fefda9e7b257652734b7813c4	Mitochondria have a central role in the energy metabolism, and the literature suggests energy @PHENOTYPICFEATURE$ are widespread in the brains of subjects with @DISEASE$, BPD, and SZ.	false
+b494049388f36f7d84974527fd22eca8435ed0f6	Mitochondria have a central role in the energy metabolism, and the literature suggests energy @PHENOTYPICFEATURE$ are widespread in the brains of subjects with @DISEASE$, BD, and SZ.	false
+19580aaf95cd996ff2a7aad61c2dac78e7980ec1	@DISEASE$ (MCLS) is a newly recognized disease characterized by fever persisting for more than 5 days, an @PHENOTYPICFEATURE$ skin eruption, conjunctival congestion, dry red fissured lips, reddened tongue, palms, and soles, nonpurulent lymphadenopathy, and sometines diarrhea, arthralgia, and aseptic meningitis.	false
+983529007a494436b928c722152ea3b4acff6243	@DISEASE$ (PKS) is a potentially lethal disorder with @PHENOTYPICFEATURE$, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease.	false
+b8a56329359d0c4a8181eb52f406450f6a4e4453	The clinical diagnosis of @DISEASE$ was made after the first year of life because of the typical @PHENOTYPICFEATURE$ and other characteristic clinical features, such as frontotemporal alopecia, depigmented area of the skin, sensorineural hearing loss, and severe psychomotor retardation.	false
+72e3074b8789ba1333ea6711ccb8651327b010f8	@DISEASE$ is a multisystem sporadic genetic diagnosis characterized by @PHENOTYPICFEATURE$, variable developmental delay and intellectual impairment, hypotonia, seizures, diaphragmatic hernia, and other systemic abnormalities.	false
+ca6dfdd1402ad1291455e2d61201138a44342edb	@DISEASE$ (PKS) is a sporadic multisystem genetic diagnosis characterized by @PHENOTYPICFEATURE$, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.	false
+62acf79c17630d8fd062d03b29f1532f946ba00d	@DISEASE$ is caused by a tetrasomy 12p mosaicism and is characterized by @PHENOTYPICFEATURE$, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation.	false
+439cb2b1ff4cbd7234b615e0d6b4898ec71bda6f	The BEAUTIFUL trial demonstrated the benefits of ivabradine on prognosis (only on ischemic endpoints) in patients with coronary artery disease (@DISEASE$) and @PHENOTYPICFEATURE$ (LVSD) and HR ? 60 bpm.	false
+37662e3e25645a3a68fe30ccb19b0c4a9daa7d87	Increased cluster genetic risk scores were associated with distinct clinical outcomes, including @PHENOTYPICFEATURE$, coronary artery disease (@DISEASE$), and stroke.	false
+3174e8c587b99e88f503ce0c3b2f0f8da4f7064a	Diagnostic criteria for heterozygous FH are 2 or more of 1) LDL-cholesterol ?180 mg/dL, 2) tendon/skin @PHENOTYPICFEATURE$(s), and 3) family history of FH or premature CAD within second degree relatives, for adults; and to have both 1) LDL-cholesterol ?140 mg/dL and 2) family history of FH or premature @DISEASE$ within second degree relatives, for children.	false
+456051bc1984c754b33514bf78856a11d026189d	Diagnostic criteria for heterozygous FH are 2 or more of 1) LDL-cholesterol ?180 mg/dL, 2) tendon/skin @PHENOTYPICFEATURE$(s), and 3) family history of FH or premature @DISEASE$ within second degree relatives, for adults; and to have both 1) LDL-cholesterol ?140 mg/dL and 2) family history of FH or premature CAD within second degree relatives, for children.	false
+43e1109bbee2411decd85a929669b2c98aed63a7	A diligent search for such clinical markers, namely xanthelasma, @PHENOTYPICFEATURE$, arcus juvenilis, acanthosis nigricans, skin tags, ear lobe crease, nicotine stains, premature graying in smokers, hyperpigmented hands in betel quid sellers, central obesity, and signs of peripheral vascular disease may prove to be a rewarding exercise in identifying asymptomatic @DISEASE$ in high risk individuals.	false
+3a79f31a1bd9dcb93b644f82a0ecd54901125182	A diligent search for such clinical markers, namely @PHENOTYPICFEATURE$, xanthoma, arcus juvenilis, acanthosis nigricans, skin tags, ear lobe crease, nicotine stains, premature graying in smokers, hyperpigmented hands in betel quid sellers, central obesity, and signs of peripheral vascular disease may prove to be a rewarding exercise in identifying asymptomatic @DISEASE$ in high risk individuals.	false
+d991cd6e1e0b361c9a0f8801cad7f12a425c5123	These observations emphasize that valproate has to be considered as a possible risk factor in patients in later stages of late-infantile @DISEASE$ disease who develop a rapidly progressive complex @PHENOTYPICFEATURE$.	false
+067386dacf9be3d717dfad8dfd9f378661710a2a	A growing number of children and adolescents are being diagnosed as @DISEASE$ (CM-I) for behavioral disorders, developmental delay, @PHENOTYPICFEATURE$, or abnormal orpharyngeal function.	false
+4a62cf5103b23db71a94948de5c16ae1d5db331d	Other nonvascular headaches, including hemicrania epileptica and postseizure headache, @DISEASE$, and the syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis, are attributed to hypothalamic or pituitary hyper- or hyposecretion, intrathecal injection, or @PHENOTYPICFEATURE$.	false
+28c78a31cd2708b679ea1dc8bf570d2ec34b8668	Ventral brainstem compression is an uncommon clinical diagnosis seen by pediatric neurosurgeons and associated with @DISEASE$. Presenting clinical symptoms often include headaches, lower cranial neuropathies, myelopathy, central sleep apnea, @PHENOTYPICFEATURE$, and nystagmus.	false
+f2d2c6af2b9916da4fdc794dfbb874c55173c5e8	Interaction with BM stroma (@DISEASE$) activated Notch signaling in @PHENOTYPICFEATURE$ cells.	false
+8f107d9ae8be1111dd50c76cd3080f4cc5a2b7e2	We found extensive migration and homing of the OECs and @DISEASE$ cells towards the @PHENOTYPICFEATURE$ area.	false
+5e621a6fc7b9afa6b8f1ba91afdca31dca2d48f7	The results of the current analysis revealed clinical and primary @PHENOTYPICFEATURE$ characteristics associated with the development of BM, TTBM, and @DISEASE$.	false
+f020947f555ebb3c2515af24ab28855b19fcd8f5	The hazard of nonfatal MI or death was similar or lower for DES than @DISEASE$ in high-risk subgroups, including @PHENOTYPICFEATURE$ and recent MI.	false
+dfa61581039f6eb862876517c75be9862b78d066	In 20 patients with solid @PHENOTYPICFEATURE$ MRI of the axial skeleton and whole-body @DISEASE$ were retrospectively reviewed.	false
+1787d8d58a0d2c2c0b67c1fc5dbae078a011abc5	The effects of @DISEASE$ on the sensitivity of MCF-7 cells to IR were determined by MTT and clonogenic assays in vitro and @PHENOTYPICFEATURE$ growth inhibition in vivo in a xenograft mouse model.	false
+872c6b26a5daa17f003e550566361e63111052a1	Mutagens (EMS and @DISEASE$) failed, at given dose levels (200 mg/kg and 300 mg/kg body weight), to induce @PHENOTYPICFEATURE$ in normal as well as PMSG-primed ovaries.	false
+36c49b005f3259d0759dd740bd202abb8b12e029	Neither patient presented with facial pain @DISEASE$ at the time of peak @PHENOTYPICFEATURE$ volume.	false
+e8d9545f09b6ea481cf6f062b2e4793e5c2731e1	To evaluate the comparative impact of magnetic resonance imaging (MRI) and bone marrow scintigraphy (@DISEASE$) in bone marrow metastases of solid @PHENOTYPICFEATURE$.	false
+65af6e92d9771ef5939e2bf6f38ac69d929d9ac2	@DISEASE$ and Exelixis target @PHENOTYPICFEATURE$ suppression pathways.	false
+880e976c68e58694f6c9e9c1dbffdfbdc1178568	Female carriers of @DISEASE$ (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present @PHENOTYPICFEATURE$ or cognitive impairment.	false
+86f333027aae98ff058748270d04d7eea6650f4a	Female carriers of Duchenne muscular dystrophy (@DISEASE$), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present @PHENOTYPICFEATURE$ or cognitive impairment.	false
+e83f6a7592b0eb597e9ddd1439af0ee6a8c9ddb5	Three early studies prior to 1990 assessed @DISEASE$ associated @PHENOTYPICFEATURE$.	false
+55f53f2d9ba7544244c2a9feb667f6a984c3de19	@PHENOTYPICFEATURE$ in DMD/BMD carriers are progressive, as in patients with @DISEASE$/BMD.	false
+b72fa7ae78800f9c2682b2f5ea40941d8d9a2b4f	@PHENOTYPICFEATURE$ in @DISEASE$/BMD carriers are progressive, as in patients with DMD/BMD.	false
+6ad7b64a9ae341c09911c9df2f6c804481af3d41	Evaluation of the North Star Ambulatory Assessment scale and @PHENOTYPICFEATURE$ in ambulant boys with @DISEASE$.	false
+f1703254a854f0eec6ec785797cc3c0a15aa8173	In addition to @DISEASE$ and MyD, they showed @PHENOTYPICFEATURE$, lack of steroid-sulfatase activities in peripheral leukocytes and massive accumulation of cholesterol sulfate in plasma.	false
+dc2e0a2565413cc289f92d74c50c9c190cb2b1a9	Current clinical trials demonstrate @DISEASE$ (DMD) patients receiving phosphorodiamidate morpholino oligomer (PMO) therapy exhibit improved ambulation and stable pulmonary function; however, @PHENOTYPICFEATURE$ remain.	false
+29515b93e604aee963d4a09ccd7b7cee821d0b73	Current clinical trials demonstrate Duchenne muscular dystrophy (@DISEASE$) patients receiving phosphorodiamidate morpholino oligomer (PMO) therapy exhibit improved ambulation and stable pulmonary function; however, @PHENOTYPICFEATURE$ remain.	false
+5862f48762f86583999e8b62e504015a4db73f41	In @DISEASE$, cardiac @PHENOTYPICFEATURE$ has been reported in addition to musculoskeletal impairment.	false
+b562168f02a65c4f2479ac09df11944331718792	In @DISEASE$ (DMD) patients @PHENOTYPICFEATURE$ are often detected.	false
+b6f83b6b08a4791fcd26311006667cf080a93720	In Duchenne muscular dystrophy (@DISEASE$) patients @PHENOTYPICFEATURE$ are often detected.	false
+94e6986e551201d9b0d3c9f67caf7cb5ee728789	X-linked markers in the @DISEASE$ gene associated with @PHENOTYPICFEATURE$.	false
+358e90755eb80e6ccf5cba5a9cc90069d4418924	@PHENOTYPICFEATURE$ in @DISEASE$ respond well to adequate therapy.	false
+50c7c4f887a826fda0b4b03ae05b08343bded597	@DISEASE$: a rare cause of disproportionate @PHENOTYPICFEATURE$.	false
+e2719af24a392a766e384773bbf56b4e2744286b	Ellis-van Creveld syndrome, an autosomal dominant @PHENOTYPICFEATURE$ with atrial septal defects, and familial @DISEASE$, an autosomal dominant trait with reduced penetrance, were genetically linked to chromosomal bands 4p16 and 4p13-q12, respectively.	false
+0abe34eeaf892180182c5cf3d26509c9327910a4	Craniofacial abnormalities (@DISEASE$) and syndromes associated to HI showed an important relationship (P<0.00001) with @PHENOTYPICFEATURE$ (CHL).	false
+b9198beadd60076fb7b071e1f950b57a909807b8	We report on a patient with unilateral cleft lip and palate, @PHENOTYPICFEATURE$, paramedian lip pits, unilateral @DISEASE$, and a coronal hypospadias.	false
+2237e6ade43aed228693c19a7b2f84de184307ad	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+177bc72a1ebf6cd77632a6e06cb969f00bb665dc	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, @DISEASE$) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+2634279a15e32a8ca42725ddc0e446c3a4bb2687	We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral @DISEASE$, absent gallbladder, @PHENOTYPICFEATURE$, and absence of ribs.	false
+902029aeae21794e91cd3dece81db6fc87ef43ce	M?llerian duct aplasia-@DISEASE$-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, @PHENOTYPICFEATURE$, and short stature.	false
+649edf0297bda7c6ba805677fb5c775d2436c4bf	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 follicular thyroid carcinoma [FTC], 50 @PHENOTYPICFEATURE$, 65 @DISEASE$, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+585a56ebf30ff5a9100409fe65c72c61bde5a238	Average number of @PHENOTYPICFEATURE$ episodes was 2.4 with MP, and 1.7 with @DISEASE$ and 6.2 with DMP.	false
+7bca28ba2a4e618699667ffb25583f1a0f6ee443	A case of @DISEASE$, nasal hypoplasia, @PHENOTYPICFEATURE$ and impaired hearing.	false
+c5821de1e0802ff65c87901d2a8a283c064acf38	Acrodysostosis is a rare syndrome characterized by growth retardation, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+efb238e6def607294581dc63cb7940ecfe8a4704	A @PHENOTYPICFEATURE$ syndrome with @DISEASE$ and pug nose.	false
+3261e3ec82a45168d66f9f38bcad2bfbcce8f2d1	Familial occurrence of a syndrome with @PHENOTYPICFEATURE$, nasal hypoplasia, @DISEASE$, and blue eyes in Japanese siblings.	false
+28ddb399c70348db858a64481513c119078a8e4b	Two cases are presented which fulfill all of the major features of acrodysostosis: @DISEASE$, nasal hypoplasia (pug nose), and @PHENOTYPICFEATURE$.	false
+d153d57533e9677e017b19e629ae4856c7d3cd47	Acrodysostosis is a rare syndrome characterized by @DISEASE$, nasal hypoplasia, and frequently @PHENOTYPICFEATURE$.	false
+9d04db0f37a5399e1b8e066ffa695f06f1a919f1	A syndrome of @DISEASE$, nasal hypoplasia, and @PHENOTYPICFEATURE$.	false
+b967bd2c613f385da556b8da7fb42b8109000eb3	Acrodysostosis is a rare syndrome characterized by @DISEASE$, nasal hypoplasia and frequently @PHENOTYPICFEATURE$.	false
+df0fa82dbeca3a24126abd9894935e8836f5e23f	Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with @DISEASE$, nasal hypoplasia, @PHENOTYPICFEATURE$ (PNM syndrome) and impaired hearing.	false
+36d76066b2c8838d1d71d49ecb61acec0471bf7d	Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of @PHENOTYPICFEATURE$ nasal hyp9plasia, @DISEASE$, and blue eyes.	false
+a8c515e15fc647f51bb73857ace188e72ac2ae86	In the patients with @DISEASE$ the following abnormalities contributed to @PHENOTYPICFEATURE$ significantly more frequently than in normal controls: depression, dysphagia, frequent nocturnal awakenings (usually associated with urinary frequency), immobility in bed, difficulty with transfers, impaired dressing and feeding.	false
+06595e5a73cc10ee6fdec10c9f090e24e29f1487	Respiratory and @PHENOTYPICFEATURE$ may be important causes of morbidity in @DISEASE$ but the frequency and character of nocturnal abnormalities remains uncertain.	false
+8f17d97c827dbf806d246b6e34c5a69fcdd00897	24 cases of orbital tumors misdiagnosed as optic neuritis or @PHENOTYPICFEATURE$ were located at the orbital apex or on the optic nerve, comprising meningioma 9 cases, cavernous hemangioma 5 cases, neurilemmoma 5 cases, neogrowths form the nasal cavity or paranasal sinuses 3 cases, leiomyoma 1 case and @DISEASE$ 1 case.	false
+23f17ec23926418973a0d3d84cea5667c9fe4c8e	Underlying etiologies were MPD, 13 (polycythemia vera, 8; @DISEASE$, 4; undefined, 1); dysfibrinogenemia, 1; anticardiolipin antibody, 1; oral contraceptive use, 3; and idiopathic, 4. All patients had ascites, hepatomegaly, and/or @PHENOTYPICFEATURE$.	false
+fc9709d1f162f8fbae8e0603a1b21ff1ac33bee9	A 56-year-old woman with @DISEASE$ presented with fluctuating complaints of headache, nausea, @PHENOTYPICFEATURE$, left-sided numbness-weakness, and dizziness and became progressively stuporous.	false
+048a2c2842dafe8d7628eddc1afd7e931ccb4b95	@PHENOTYPICFEATURE$ and atherothrombotic events in polycythemia vera and @DISEASE$.	false
+baca018c2a6b93763d6901e4c2defcdb1aeadb47	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with @DISEASE$ (ET) in 6 and polycythemia vera (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, @PHENOTYPICFEATURE$, syncope or even seizures.	false
+abf5846427f2601eea89e7f0ee1f28b58a5ba52a	An 82-year-old woman who had a history of @DISEASE$ presented with ocular pain, bleeding, and @PHENOTYPICFEATURE$ of the left eye.	false
+c051c4449b4f7957f59da2be6c4ad0eed5ab86d6	Primary neuroendocrine carcinoma of the skin, or @DISEASE$ (MCC), is a rare but @PHENOTYPICFEATURE$ tumor.	false
+5220f7c9fc37255d046d74e2df1b4b4b626eb9dc	Primary @DISEASE$, or Merkel Cell carcinoma (MCC), is a rare but @PHENOTYPICFEATURE$ tumor.	false
+5e60dbf5885218afd8ab518839305bc751dd3cd3	Paroxysmal unilateral @PHENOTYPICFEATURE$ and @DISEASE$.	false
+57378f525e58c60233a48aa8ba15c31c047b2c88	Unilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+aaf4ad685f990da2c15a358d71b1ab08bec10b26	This first published long-term follow-up of renal coloboma syndrome shows progressive posterior @PHENOTYPICFEATURE$, axial myopia, and @DISEASE$ with only a small decline in visual function over time.	false
+61ec3fed3df480edd5d5bfdabea44d1c614020b3	A 57-year-old female patient presented with unilateral progressive painless @PHENOTYPICFEATURE$, corneal @DISEASE$, and morphological corneal endothelial changes without corneal edema or any previous ophthalmic, medical, or family history.	false
+a4a2b85cb135a456be629c7b68d65fe67fd812db	Complications included @PHENOTYPICFEATURE$ development (12 eyes), secondary glaucoma (14 eyes), epithelial defects (six eyes), @DISEASE$ (five eyes), retinal detachment (three eyes), wound leakage (two eyes), retrocorneal membrane (one eye), and microbial keratitis (two eyes).	false
+9ebaa9c22bbf36778b4c7b475975304694a93d26	Although systemic mastocytosis (SM) with an associated clonal haematological non-mast cell lineage disease (@DISEASE$) is a major subtype of SM, little is known about its frequency among myelogenous @PHENOTYPICFEATURE$, and mastocytosis in particular, or about AHNMD subtype frequencies.	false
+1bd92c74ba7c0f045897491bf133c257cd891a1d	Association of systemic mastocytosis (SM) with a chronic myeloproliferative @PHENOTYPICFEATURE$ (@DISEASE$) is the second frequently category.	false
+d31ae71e90e4f34d582679db310972c641c0834b	@PHENOTYPICFEATURE$ in @DISEASE$ are a well-established phenomenon that has been observed in many studies.	false
+c1240d530dfc4a510f44d061df8509c8671f5dd4	Neuropsychological and @PHENOTYPICFEATURE$ in first-episode and chronic @DISEASE$.	false
+5c3b62360c9ae260640fcd97fb0f72d8436c64ec	@DISEASE$ patients show @PHENOTYPICFEATURE$ that suggest dysfunction in neocortical control of the oculomotor system.	false
+a85d571f9ed5130022580981e185b42279863aa1	However, it is still unclear whether @PHENOTYPICFEATURE$ in @DISEASE$ and in ASD have common features.	false
+364648eaa2f97f0f5cc0f4e886b1ac4d9ce2991e	Saccadic @PHENOTYPICFEATURE$ in relatives of patients with @DISEASE$.	false
+cbef41da90af307e9b0c94bb4ccf7d3ea6b983e5	@PHENOTYPICFEATURE$ in @DISEASE$: what is the nature of the deficit?	false
+404888f4f9b104153cf4c52dee808f8715cd4604	@DISEASE$ is associated with @PHENOTYPICFEATURE$ information processing.	false
+f0411b813c0b75b4b255d5c0d9cb7ad25d2be935	Visual fixation and smooth pursuit @PHENOTYPICFEATURE$ in patients with @DISEASE$ and their relatives.	false
+1db60371d20c8bf79a3c8471209c4a0abc529cd1	The present results suggest that eye movement abnormalities in the subjects with ASD are different from those with @DISEASE$ and that the tasks in this study are suitable to detect @PHENOTYPICFEATURE$ in schizophrenia.	false
+094cd155c0591f5d9d58d1491e2f2d9ffe92603e	The present results suggest that eye movement abnormalities in the subjects with ASD are different from those with schizophrenia and that the tasks in this study are suitable to detect @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5fa0a71b265e97da7f0621dc36a8db907b44d745	The present results suggest that @PHENOTYPICFEATURE$ in the subjects with ASD are different from those with schizophrenia and that the tasks in this study are suitable to detect eye movement abnormality in @DISEASE$.	false
+6030b7e4295d85bbde000e573a86887bdb5c5b28	The present results suggest that @PHENOTYPICFEATURE$ in the subjects with ASD are different from those with @DISEASE$ and that the tasks in this study are suitable to detect eye movement abnormality in schizophrenia.	false
+32a052651f45789b1664fd41a3737673c7136f73	Patients with @DISEASE$ and high-risk populations have elevated rates of @PHENOTYPICFEATURE$.	false
+c2ab8eae2d51c93260a1f6484f7b0536c55ed7d2	Of 169 children with @DISEASE$ treated at our institution between 1962 and 1993, 5 had concurrent @PHENOTYPICFEATURE$, hypotonia, and abnormalities of constitutional chromosome 13.	false
+6d39ac3eaf221fa0b9b50b17c7afcb5bfd185ee9	@PHENOTYPICFEATURE$ and congenital brain anomalies are also reported in patients with @DISEASE$, mostly in combination with 13q deletion syndrome.	false
+de499fc9c4554a436dad253a5900b6c09e810369	No association between AR, @PHENOTYPICFEATURE$, and @DISEASE$ has been described.	false
+db73a45e56404c93ec9fd3fb312cee450a9058cd	Patients with retinoblastoma and malformations without a peculiar facial phenotype may have a different deletion syndrome or a casual association of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e9e503b6d971583a60094895c92833b58d0e1b3a	Patients with @DISEASE$ and malformations without a peculiar facial phenotype may have a different deletion syndrome or a casual association of @PHENOTYPICFEATURE$ and retinoblastoma.	false
+491ad7407e390444c9b1d45b860a9fe66fb8d848	Clinical applications of bioethical considerations are given to the patients with following diseases: @PHENOTYPICFEATURE$ and other neural tube defects, congenital metabolic disorders such as cretinism and phenylketonuria, malignant tumors such as neuroblastoma and @DISEASE$, and intractable epilepsy.	false
+56a1ba76f743d09f306125fec949d27b8c7ca4b8	@DISEASE$ and @PHENOTYPICFEATURE$ microdeletion syndrome: clinical characterization and molecular dissection using array CGH.	false
+8064a49a0f2cc9c9504e3cade1c6163e217121bf	A patient with @PHENOTYPICFEATURE$ and other congenital abnormalities who developed @DISEASE$ was shown to have a deletion on the long arm of chromosome #13 with breakpoints in regions q14 and q31.	false
+85a6179ad7d4af8d29026c058795100cc53583b7	Two other mentally retarded @DISEASE$ patients with normal esterase-D activity showed no karyotypic abnormality, demonstrating that @PHENOTYPICFEATURE$ cannot be taken to indicate a chromosome deletion in all cases.	false
+bad65dd1076fbb1ca143d28fe921a0f03ebb956d	Two other @PHENOTYPICFEATURE$ @DISEASE$ patients with normal esterase-D activity showed no karyotypic abnormality, demonstrating that mental retardation cannot be taken to indicate a chromosome deletion in all cases.	false
+b951fd8a04a0c5c9c327ba4bb23c57a4dfa1a929	She had @DISEASE$ of her right eye 8 months after birth, which was treated with chemotherapy and irradiation (40 Gy), twice, @PHENOTYPICFEATURE$ 1 year and 2 months after birth, and thereafter severe mental retardation.	false
+688ebeb82f3839ebb007b3be6a6cd7cb42ffc2fa	She had @DISEASE$ of her right eye 8 months after birth, which was treated with chemotherapy and irradiation (40 Gy), twice, seizures 1 year and 2 months after birth, and thereafter @PHENOTYPICFEATURE$.	false
+4d52bc9193df90e1398dfe4df769f9a3f4a8f187	Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and @PHENOTYPICFEATURE$ from a survey of 500 individuals with @DISEASE$.	false
+28d688f3059e3ef938787d18ab28c24861949975	@DISEASE$ is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and @PHENOTYPICFEATURE$ (ACCPN).	false
+f87f9584df28dfc79e209da143ccfd0795ae9ec7	We here propose that abnormal motoneuron electrical activity contributes to the @PHENOTYPICFEATURE$ observed in @DISEASE$.	false
+4ded10e9a8057bc301e4021e1aac09d5a07898f1	Furthermore, recessively inherited mutations of SLC12A6 cause @DISEASE$, characterized by agenesis of the corpus callosum, which is associated with @PHENOTYPICFEATURE$ and psychoses.	false
+2ca039c3f6a7ccf996d340a262707b0312eb2534	We report a female patient with a known history of @DISEASE$, which developed a slowly progressive, distal symmetric demyelinating sensorimotor polyneuropathy (PN), with tremor and @PHENOTYPICFEATURE$ as prominent features, compatible with anti-myelin associated glycoprotein (MAG) PN.	false
+c8e49a10b182a04a49bf316b442ff99195f73a8c	A 5-year-old boy with @DISEASE$ had bilateral microsclerocornea, hypoplastic nose, bilaterally absent radii, elbow flexion contractures, absent left fibula, @PHENOTYPICFEATURE$, and normal intelligence.	false
+9c19a0f0ff1979d84cf88c2003903a1e367b4b35	This paper reports on @DISEASE$ which is characterized by mental @PHENOTYPICFEATURE$ failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational nystagmus, strabismus and a small pointed nose with depressed root.	false
+17ecbec30d2c83a4ffc37a928027c47d91a5247d	In recent years oxidative stress has been implicated in a wide variety of degenerative processes, diseases and syndromes, including the following: mutagenesis, cell transformation and cancer; atherosclerosis, arteriosclerosis, heart attacks, strokes and ischaemia/reperfusion injury; chronic inflammatory diseases, such as rheumatoid arthritis, lupus erythematosus and psoriatic arthritis; acute inflammatory problems, such as wound healing; photo-oxidative stresses to the eye, such as @PHENOTYPICFEATURE$; central-nervous-system disorders, such as certain forms of @DISEASE$, certain glutathione peroxidase-linked adolescent seizures, Parkinson's disease and Alzheimer's dementia; and a wide variety of age-related disorders, perhaps even including factors underlying the aging process itself.	false
+683ba97c8d847830e9abaf1e5cf216bc6fa3301d	We determined the incidence of MTWA in these patients and its coincidence with ventricular arrhythmia, as well as risk factors of @PHENOTYPICFEATURE$/@DISEASE$.	false
+765332fd09cc6400d14e7a28dbeb0bc09464721f	We determined the incidence of MTWA in these patients and its coincidence with @PHENOTYPICFEATURE$, as well as risk factors of ventricular arrhythmia/@DISEASE$.	false
+f50d2d62fb29a4261d798c98fab089be0b444570	@PHENOTYPICFEATURE$ caused @DISEASE$ in patients without implantable cardioverter-defibrillator (ICD).	false
+a9a86489833b4c148ef140570037831107796712	Combining PERS with HRV identified patients at particularly high risk of @PHENOTYPICFEATURE$/@DISEASE$.	false
+3749697a0ac07807e8bb2b76cc6b98b72c0d18ac	* relaxometry, deformation imaging) have been associated with @PHENOTYPICFEATURE$ and @DISEASE$ risk.	false
+c2f00a51b0e07893dacb1356f3cf4236b47f143d	There is a very close relationship between @PHENOTYPICFEATURE$ and @DISEASE$ in AMI.	false
+800455e4179de38dd9ff4a33deef863e0830c8a4	The primary end point was @DISEASE$ or lethal @PHENOTYPICFEATURE$.	false
+f90799f2c9404cd5fe3ef16e412d542815d0d79c	@PHENOTYPICFEATURE$ is the leading cause of sudden cardiac death (@DISEASE$).	false
+66ec4c20e280e2dd6aa6a96dca8771f972a0b867	@PHENOTYPICFEATURE$ and activated monocytes are also observed in @DISEASE$ in absence of infection or vaso-occlusion (steady state), the reasons for which are unknown.	false
+3ef99bf971432cc85a3bce3d72787ede570435fc	Endpoints were @PHENOTYPICFEATURE$ (VA)/@DISEASE$.	false
+9077fe1a35a69455a676f536e960035b51e5406e	During median follow up of 22?months, 11 patients experienced @PHENOTYPICFEATURE$ (VA)/@DISEASE$.	false
+75d94c1f086c08966ab8901ce56990d0f185d261	The classic BCR-ABL-negative myeloproliferative neoplasms (MPNs) which include polycythemia vera (PV), @DISEASE$ (ET), and primary myelofibrosis (PMF) are among the most frequent @PHENOTYPICFEATURE$.	false
+59df23ee378b44c413706124ae215daff5da1da2	@DISEASE$ in a child with elevated thrombopoietin concentrations and @PHENOTYPICFEATURE$.	false
+6b27499c548a32b630cdd5a51dd453785bc50a40	We describe a 2-year-old child with @DISEASE$, @PHENOTYPICFEATURE$, and elevated thrombopoietin concentrations.	false
+45a0246ee142cbe3661e3d4cfabde8472c89382a	Interestingly, administration of glucocorticoids, for the patient's @DISEASE$, alleviated the patient's chronic diarrhea and decreased the incidence of @PHENOTYPICFEATURE$.	false
+68429c38210f5bd605e7f41bb1c90d56439369c8	Here, we present the case of a patient with @DISEASE$ caused by secondary amyloidosis, chronic @PHENOTYPICFEATURE$ and a history of leprosy.	false
+85e2a259ebe7a367cabd9777c2582362a793cb26	Its recognition requires understanding the association between @DISEASE$, cardiomyopathy, @PHENOTYPICFEATURE$, and hepatomegaly with amyloidosis.	false
+ff625b52b40f45287d0ce1827005196e72f8ba9f	Common presenting features include @DISEASE$, hepatomegaly, sensomotor @PHENOTYPICFEATURE$ and, in the case of cardiac involvement, congestive heart failure.	false
+fb15ccff980a06db0ccb9a744aa8869c4573dc88	At presentation, 77 percent of the group had an associated @DISEASE$, congestive heart failure, @PHENOTYPICFEATURE$, or orthostatic hypotension.	false
+631d8cc93912d8d72b89d0faeb8a9fd69ea5a4cc	The @DISEASE$ appears to be persistent in the chronic form of the @PHENOTYPICFEATURE$ but reversible in its acute form following immunosuppressive therapy.	false
+d1f43220899ad9832f487454613059edc2b20c4b	@DISEASE$, congestive heart failure, orthostatic hypotension, carpal tunnel syndrome, and @PHENOTYPICFEATURE$ were often associated features.	false
+59fa7698e417955080df319d099593baaf2e6f4e	Patients typically present with chronic suppurative @PHENOTYPICFEATURE$, edema, the @DISEASE$, benign urinary sediment, and normal-sized or enlarged kidneys.	false
+3959dec6478ace9f7b96fbe2b6e4fb5d5b00f1b9	The most frequent presenting signs of such an association are @DISEASE$, cardiomyopathy and @PHENOTYPICFEATURE$.	false
+de0fb2ca3c8f33037cf6620b327060b485e2f3ad	A 29-year-old male presenting @DISEASE$ and facial skin @PHENOTYPICFEATURE$ was admitted to our hospital in September of 2000.	false
+488b444ca2f2da11ada9ddee311528ec80cdfb87	@DISEASE$ were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between @PHENOTYPICFEATURE$, restrictive lung disease, and conduction disorders: patients with cataract and those with conduction disorders exhibited more severe restrictive lung disease than the other patients.	false
+bd0fbc686e55e9ed2bf22f71bed5eb05b3768289	Conduction disorders were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between @PHENOTYPICFEATURE$, restrictive lung disease, and @DISEASE$: patients with cataract and those with conduction disorders exhibited more severe restrictive lung disease than the other patients.	false
+c7c22518432c39b1bf32a8776568725ddfd6870f	Conduction disorders were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between cataract, restrictive lung disease, and @DISEASE$: patients with @PHENOTYPICFEATURE$ and those with conduction disorders exhibited more severe restrictive lung disease than the other patients.	false
+f8379e6e9c0233581bfabb3d7111cde4f3705c03	Conduction disorders were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between @PHENOTYPICFEATURE$, restrictive lung disease, and conduction disorders: patients with cataract and those with @DISEASE$ exhibited more severe restrictive lung disease than the other patients.	false
+9369054c4e9771509a910f59da09ba66c0f06743	Conduction disorders were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between cataract, restrictive lung disease, and conduction disorders: patients with @PHENOTYPICFEATURE$ and those with @DISEASE$ exhibited more severe restrictive lung disease than the other patients.	false
+7246deb29d25c380cd0b77abc8db7b0750d20df6	@DISEASE$ were found in 30.2% of patients and were predicted by left ventricular ejection fraction, MIRS, and CTG repeat expansion.We found significant relationships between cataract, restrictive lung disease, and conduction disorders: patients with @PHENOTYPICFEATURE$ and those with conduction disorders exhibited more severe restrictive lung disease than the other patients.	false
+54327741de7517f7bdb4c5a7758727d0ce4c57ea	The four aims of this review are (1) to give a thorough overview of eye movement studies in a wide array of psychiatric disorders occurring during childhood and adolescence (attention-deficit/hyperactivity disorder, oppositional deviant disorder and @DISEASE$, autism spectrum disorders, reading disorder, childhood-onset schizophrenia, Tourette's syndrome, obsessive compulsive disorder, and anxiety and depression), (2) to discuss the specificity and overlap of eye movement findings across disorders and paradigms, (3) to discuss the developmental aspects of @PHENOTYPICFEATURE$ in childhood and adolescence psychiatric disorders, and (4) to present suggestions for future research.	false
+2681bcacc8fd16cdc1e1de214723fe938cd58e35	Kearns-Sayre syndrome is a rare mitochondrial disease which usually occurs sporadically with the presence of @PHENOTYPICFEATURE$ and the clinical triad of chronic progressive external ophthalmoplegia, atypical retinitis pigmentosa and @DISEASE$.	false
+e631f1a4827b784029c157001786214d7149b2c5	Patients with total MFM below 76 had a higher risk of respiratory insufficiency, @DISEASE$, left ventricular dysfunction, hypoxemia and @PHENOTYPICFEATURE$ than the other DM1 patients.	false
+9781c1f1be7ff3c2f36bc6f2a990fcda58030216	Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or @DISEASE$, @PHENOTYPICFEATURE$, endocrine damage, sleep disorders and baldness.	false
+69cba61f75acfe86bd75c22a4f8cf997446ac1d7	Conversely, the relative risk of restrictive lung disease was 2.42 (1% confidence interval [CI], 1.06-5.51) in patients with @PHENOTYPICFEATURE$ and 2.54 (1% CI, 1.26-5.07) in patients with @DISEASE$.	false
+eb47adae6b76619bf3ab87a27ad9a7d81e81e0aa	It was speculated that hypothalamic dysfunction, possibly related to @PHENOTYPICFEATURE$, induced both hypodipsia and transient @DISEASE$.	false
+6ed87635ab921706dc47d055ed303a16dc571b4b	Hypodipsic hypernatremia developed in association with @DISEASE$ and @PHENOTYPICFEATURE$ in a 7-month-old cat.	false
+8ebca7d867f3f30eed839bc20c7fd06d10c8ace8	Age, sex, tumor diameter, presence of cyst, @PHENOTYPICFEATURE$, intracranial pressure (ICP) elevation, visual function impairment, @DISEASE$, diabetes insipidus, memory disturbance, and obesity were investigated.	false
+1839f4203629ae7ad817e0198906dd11241ffe38	Age, sex, tumor diameter, presence of cyst, hydrocephalus, intracranial pressure (ICP) elevation, visual function impairment, @DISEASE$, diabetes insipidus, memory disturbance, and @PHENOTYPICFEATURE$ were investigated.	false
+e76ed41609e3da617ceddedbffeff8dfa79780ac	Data on @PHENOTYPICFEATURE$ in females with untreated @DISEASE$ are limited.	false
+0a21eafedfc6ac693de4a4cefc26e2102dd449f9	Electrocardiogram data showed that @DISEASE$ was associated with more episodes of @PHENOTYPICFEATURE$.	false
+f36d976954642369dbf7fc2682a321e31f207d1a	Obstructive @PHENOTYPICFEATURE$ as a cause of @DISEASE$.	false
+c0b35d53fee89c530b7e73d66c6d19a546f6c07f	The differential diagnosis of @DISEASE$ and occult @PHENOTYPICFEATURE$ is difficult.	false
+6a932c9184f76185e19908f25ba0b16eea13abcd	The prevalence of @PHENOTYPICFEATURE$ is increased in @DISEASE$.	false
+9b2c11092c27a70db9a888dc5c9cccf830e71f0a	@DISEASE$ due to @PHENOTYPICFEATURE$: case report and review of the literature.	false
+ffe36e6e875168c68677283146fb6e830cb908fb	She was admitted with a @PHENOTYPICFEATURE$, @DISEASE$, and severe visual loss.	false
+f44ba1d9ac122f12eed317adf2213aca9ecaaab0	@DISEASE$ (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+e96152b31ed13a4d3d6b5a901fce896be0835edf	Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by @DISEASE$ (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+6a5a47606aa8bc5fd6c5cdd2c6a2e9b174f7a4aa	Nevoid basal cell carcinoma syndrome (@DISEASE$) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+4b213360b0c1e316dec6122b416f71b1d7c72373	It is characterized by early onset of @DISEASE$, mandibular keratocytes, pits of the palms and soles, cerebral @PHENOTYPICFEATURE$ and several skeletal anomalies.	false
+60a4ff45bbd091203c707349d138f3f3f3b77dc5	Nevoid basal cell carcinoma syndrome, also referred to as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder characterized by @DISEASE$, jaw cysts, palmar or plantar pits, @PHENOTYPICFEATURE$ of the falx cerebri, and various skeletal developmental abnormalities.	false
+94195cefe7d15a0e8e2b709c6b0513a99ad2a89d	Nevoid basal cell carcinoma syndrome, also referred to as @DISEASE$, is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar or plantar pits, @PHENOTYPICFEATURE$ of the falx cerebri, and various skeletal developmental abnormalities.	false
+32085d434fb8b126ee408bc5ee953ba18122a450	@DISEASE$, also referred to as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar or plantar pits, @PHENOTYPICFEATURE$ of the falx cerebri, and various skeletal developmental abnormalities.	false
+ac8e5696bb3eecd3adcb2f1420f43ce4dcd3e46c	@DISEASE$ in a Patient of Oculocutaneous @PHENOTYPICFEATURE$.	false
+0c4032fcd1b85af92c1253f217455342ff4b8967	@DISEASE$ (NBCCS) is a rare condition characterized by varied clinical manifestations like multiple Basal Cell Carcinomas (BCC), multiple Keratocystic Odontogenic Tumours (KCOT), palmar and/or plantar pits and @PHENOTYPICFEATURE$ of the falx cerebri, which are considered as the major criteria for diagnosis.	false
+912d512f152bf22e5af2f9f3ba118fd171f6d0ae	Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is a rare condition characterized by varied clinical manifestations like @DISEASE$ (BCC), multiple Keratocystic Odontogenic Tumours (KCOT), palmar and/or plantar pits and @PHENOTYPICFEATURE$ of the falx cerebri, which are considered as the major criteria for diagnosis.	false
+86c0611e9f8af5c4451045a6e5712767a08a86cb	Nevoid basal cell carcinoma syndrome (@DISEASE$), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+128c22888302fe3a7d40c6641eb7d66ae86f4aa7	@DISEASE$ (NBCCS), an autosomal dominant disorder with a high degree of penetrance and variable expressivity, is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+a3247df3a55433f444c728884ca8308bcfc053c3	It is characterised by @DISEASE$, keratocysts of the jaws, palmar and plantar pits, cerebral @PHENOTYPICFEATURE$ and several skeletal anomalies.	false
+2ce986c7b5ab3a189a2fc0c395d80daee3ade84b	Recurrent petrous apex @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+42be8dbbd3e39c236af4063b5793add154b5d0a4	Gorlin-Goltz syndrome or @DISEASE$ is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+8ae7fb1304395dc00bb3fedc2a53b64c9ca3fdfe	@DISEASE$ or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and @PHENOTYPICFEATURE$ of the falx cerebri.	false
+4ac801b8f2c802e8b917da16036306363204e0e1	They do not occur within the context of well-defined syndromes, such like @DISEASE$, @PHENOTYPICFEATURE$, or xeroderma pigmentosum.	false
+13306229924048cd0e465c77ca3ab8fb67a16614	Functional impairment in patients with @DISEASE$ can be assessed by an @PHENOTYPICFEATURE$ rating scale (SARA).	false
+47c8ba0a9e6eeb0738ac7e3d096e890e22026cf2	Epiretinal membrane: a treatable cause of visual @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ed3a73aeb899a00d8a7754b7a838fc7057e36080	Long repeats of these sequences are involved in the etiology of @DISEASE$ and Friedreich's @PHENOTYPICFEATURE$, respectively.	false
+7238f2dba82cc103a9eabb5df477bb3ded42f946	Coincident trinucleotide repeat expansions in a patient with @DISEASE$ and spinocerebellar @PHENOTYPICFEATURE$.	false
+215a5e20e15e4929d65be081d70d16ceded8cfbb	@DISEASE$ (DM1) is not characterised by ataxia per se; however, DM1 and @PHENOTYPICFEATURE$ patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies.	false
+eb7eb3724357d352dcd0de7f9de3efa1bc2d26cf	@DISEASE$ (DM1) is not characterised by @PHENOTYPICFEATURE$ per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies.	false
+719a83c607a53cfa5ad999ab8280ee8cb9ca30ef	Friedreich ataxia, @DISEASE$ and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and FRA12A @PHENOTYPICFEATURE$ are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.	false
+ab1b7329841ab1d118a12dbe3be7b53dcc14cd87	Friedreich @PHENOTYPICFEATURE$, @DISEASE$ and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and FRA12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.	false
+e24128f315821d7e75eefe186e852547b69f5217	Friedreich ataxia, @DISEASE$ and 3 forms of intellectual disability, fragile X syndrome, FRAXE @PHENOTYPICFEATURE$, and FRA12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.	false
+98216b1cf4cbda992ef7960720561bad76694290	Four-repeat tau dominant pathology in a @DISEASE$ type 1 patient with @PHENOTYPICFEATURE$.	false
+cc5a5c738546e55f7ada312f51b0c1959ea99512	These repeat tracts are involved in the etiologies of Friedreich @PHENOTYPICFEATURE$, fragile X syndrome, and @DISEASE$, respectively.	false
+377915853e9c9554798f32a069710449a939283e	@DISEASE$ type 1 (CDM1) affects patients from birth and is associated with @PHENOTYPICFEATURE$ and impaired muscle development.	false
+0922f5505cffe8753d0684b924cce75332b54edc	Trinucleotide instability is a hallmark of degenerative neurological diseases like Huntington's disease, some forms of spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$ (DM1).	false
+6cfdf9538770cea3150c7d3bb372ab85330fa96d	@DISEASE$ (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and @PHENOTYPICFEATURE$.	false
+7c7fbd428360c94eca0fcd9ff1e8a1ac2b33a562	Orbital compartment syndrome (@DISEASE$) is a rare cause of @PHENOTYPICFEATURE$ following intracranial surgery.	false
+96b10867a53461c48c6da3d224a7a537b2e57a58	Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (@DISEASE$) are genetic conditions characterized by impaired skeletal development with small and dense bones, @PHENOTYPICFEATURE$, and primary hypoparathyroidism with hypocalcemia.	false
+5ec987dd4bdf9b73ad5067b92ba4bc2cc8b75c36	Cardiac events, including heart failure and @PHENOTYPICFEATURE$, are the leading cause of death in patients with @DISEASE$.	false
+196fe9eaee3f57ad50bf91235e1a49c3fa1ea46d	Cortical and @DISEASE$ @PHENOTYPICFEATURE$ were not significantly associated with LZ intake.	false
+0160370a75baf3e990d48016ffd012603b0fb9f4	Changes in MetS predicted the 5-year incidence of cortical and @DISEASE$ @PHENOTYPICFEATURE$.	false
+549c755c563097d8a2d6f047113fc9bf9b55369f	and @DISEASE$ @PHENOTYPICFEATURE$ (HR 1.75; 95% CI, 1.01-3.04).	false
+beab89b455dcfb9689923c7e3a8fcb0e80dab5ce	The association of @DISEASE$ @PHENOTYPICFEATURE$ with steroid use and diabetes was reconfirmed.	false
+fc32dea4d19517a93a934b159ebec88a546f8a5d	Smoking and hypertension were not found to be @DISEASE$ @PHENOTYPICFEATURE$ risk factors.	false
+6c412a586fe7a6662bc13c63f56bdc5eed12395e	Similar trends with age were noted for nuclear, cortical, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+7726166a5848909d6f48ca9ca9e0dcaf095d01b0	95% CI -0.04 to 0.36) and @DISEASE$ @PHENOTYPICFEATURE$ (ERR/Sv=0.14;	false
+82588a44dfbf5a0a17be3cad0af2aad9b4a7d589	A standardized grading system was used to grade cortical, nuclear, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+afbd3f2071d0f8adc3e2ec448cc21308b63bc34f	and @DISEASE$ @PHENOTYPICFEATURE$ (pooled OR 1.93, 95% CI 1.49-2.49)	false
+58202a3ddd19580334b0cadef5036ddbb897f020	and @DISEASE$ @PHENOTYPICFEATURE$ (pooled RR 1.26, 95% CI 0.92-1.74).	false
+da6c117021309543d55d00dd6bf9da74f4235ea5	Typical clinical features observed in @DISEASE$ patients include @PHENOTYPICFEATURE$, facial dysmorphia, microcephaly, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+38a13f7f1887b0a4537b4a981b706f5b34508fcf	(1) All patients were consistent with the diagnostic criteria of @DISEASE$ who had asymmetric @PHENOTYPICFEATURE$ and weakness of the hand and forearm.	false
+2f9bbc38aa1b07f569ad8da26ecdc2a0218c5949	@DISEASE$, juvenile @PHENOTYPICFEATURE$ of the distal upper extremity, is a rare type of cervical flexion segmental myelopathy and its etiology is still being debated.	false
+ffac29089152b7f10eb6b05b48f8a82e9e503a2f	HyperIgEaemia in patients with juvenile @PHENOTYPICFEATURE$ of the distal upper extremity (@DISEASE$).	false
+44406c90bac446175cd22d5375d64c8b5e55b267	@DISEASE$ (MMA) is a benign motor neuron disease with bilateral @PHENOTYPICFEATURE$ in asymmetry and abnormal in the electromyography (EMG).	false
+5a5decd6b5b368e56393b6892a25173b7189bd43	@DISEASE$ is a juvenile benign distal upper limb @PHENOTYPICFEATURE$ rarely observed in Europe, usually monomelic involving C7-Th1 innervated muscles.	false
+1eb39d3a879c36e8965afc2f119664a08c4c0324	@DISEASE$ is a juvenile @PHENOTYPICFEATURE$ of the distal upper extremities and affects mainly young males.	false
+8d6b295fe4e05125363e93bcaca49b0b84991511	Her neurologic and electrophysiological signs were compatible with juvenile @PHENOTYPICFEATURE$ of unilateral upper extremity (@DISEASE$).	false
+8b914b147bd3dca05e10071dd907cae5b200ef00	@DISEASE$ is a rare children's muscular atrophy that affects young Asian males, with @PHENOTYPICFEATURE$ usually in one of the upper limbs that progresses slowly and later stabilises.	false
+38e92e1ec19735d1c3fdfef73f80925b21c215a7	@DISEASE$ is a rare children's @PHENOTYPICFEATURE$ that affects young Asian males, with muscular atrophy usually in one of the upper limbs that progresses slowly and later stabilises.	false
+61928e33865e6aa55e5ad1caea1ce65d6122fe4d	Monomelic amyotrophy (MMA), also known as @DISEASE$, is a sporadic juvenile @PHENOTYPICFEATURE$ in the distal upper extremities.	false
+0524e72b214609e994facb5c807c749154e278ab	@DISEASE$ (MMA), also known as Hirayama disease, is a sporadic juvenile @PHENOTYPICFEATURE$ in the distal upper extremities.	false
+e518f9203bdafd7b2000ce3dfd31b7ff7ef8e5ff	We report herein a case with @DISEASE$-like juvenile @PHENOTYPICFEATURE$ involving proximal muscles in the upper extremities.	false
+e23ebfda10908c9e84b8126fcd12b8b5c6e67b03	A 15-year-old boy developed an @DISEASE$ skin rash, @PHENOTYPICFEATURE$, knee pain, syncope, and was found to be in complete heart block requiring temporary transvenous pacing.	false
+55cb68bd40b956582dcf1c942475d00488da372e	Complications included pin track infections (n=4), early transient @DISEASE$ (n=2), and @PHENOTYPICFEATURE$ along the superficial branch of the radial nerve (n=2).	false
+d5efda01e490b2ab1ea2ea8f13b5d9158259b567	Four patients presented @DISEASE$; 1 patient had a superficial Kirschner wire infection, and another patient had radial nerve superficial branch @PHENOTYPICFEATURE$.	false
+bdbb3c4f04f4e68d2593c8fa1df9cf2b71dd89d9	This study indicates that GH deficiency is associated with @DISEASE$ and that children with MCAP and @PHENOTYPICFEATURE$ and/or postnatal growth failure should be evaluated for GH deficiency and other endocrinopathies.	false
+4080096bf97ab2221a9d7af6133b38782b536e08	A diagnosis of @DISEASE$ was made though in contrast to earlier reports, recurrent upper respiratory infections and hepatosplenomegaly were present already in infancy, and @PHENOTYPICFEATURE$ of dysostosis multiplex were found in early childhood.	false
+4df9c942fe413f5f6d2d248f9ecc4d3bb28f571d	@PHENOTYPICFEATURE$ in myoclonic tremor: a comparison with @DISEASE$.	false
+611519fe175590945301313c0ccc4d014ae96b84	In @DISEASE$ (SCA6), the @PHENOTYPICFEATURE$ and its correlation with other clinical parameters require further exploration.	false
+1e00c20073a29b287c5fec7a2062cdebd935309f	The proposita is a 16-year-old girl with polysyndactyly of the hands and feet, @PHENOTYPICFEATURE$, and a large @DISEASE$.	false
+a0e6eca95dd3b9710e2c23ceb37ee69b239a46a2	@DISEASE$, cerebellar hypoplasia, @PHENOTYPICFEATURE$ and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?	false
+ac914ac295a5c85e50a9aed499c4a091047c642c	It is characterized by facial dysmorphism, skeletal anomalies, @DISEASE$, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, @PHENOTYPICFEATURE$ and a variety of other malformations.	false
+f44668107697e000dcb9dd2ecb7dc0a7482ff3b2	Linear unilateral basal cell nevus: a benign follicular @PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+0dc5dea41caed115f7643ce56eb35f80ab280135	The pathophysiology of basaloid follicular @PHENOTYPICFEATURE$ development involves mutations in the patched gene, which is also causative in @DISEASE$.	false
+2452db03b7dbbcb3bafa87d312a85874e0a33230	[Phylogenetic @PHENOTYPICFEATURE$ associated with @DISEASE$].	false
+426aa96cc86d0e8909fec4165a7820fc5eb601be	LBCN is a rare benign follicular @PHENOTYPICFEATURE$ that must be distinguished from the more aggressive unilateral and segmental variant of @DISEASE$ (NBCCS) and the linear variant of BCC.	false
+25515b2820ea4aba251bb166186873587c7db2e0	Of the various features of the Goldenhar-@DISEASE$ (skin tags, microtia, hemifacial microsomia, and @PHENOTYPICFEATURE$), only skin tags correlated positively with the laterality of epibulbar choristomas.	false
+9fd1947fc68236e3f1ab5103e4e1b703698f50e6	@DISEASE$ is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and @PHENOTYPICFEATURE$ consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal.	false
+b2e606194001a7fa2d54f42e31e8297e70e013b1	Based on the presence of additional @PHENOTYPICFEATURE$, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for @DISEASE$ type 1.	false
+cde0c4d5611170804b2d86e7524df0acb35f8a81	First, we used Australian Federal Police (@DISEASE$) data on all commercial level seizures at the Australian border from 1999 to 2012 to identify the proportion of @PHENOTYPICFEATURE$ that were poly-drug and trends over time.	false
+018aa65b7d820b18182caee806fadaadc2d60988	First, we used Australian Federal Police (@DISEASE$) data on all commercial level @PHENOTYPICFEATURE$ at the Australian border from 1999 to 2012 to identify the proportion of seizures that were poly-drug and trends over time.	false
+403ccb9bb69609e1cc72da74512af71387719771	In contrast to anencephaly, @PHENOTYPICFEATURE$ can be difficult to diagnose with ultrasonography before 20 weeks and require amniocentesis with @DISEASE$ and AChE study.	false
+8fbf0dcf751a4cc00f48e74c75f6541a921fcf3e	Herein, we describe a case of transient @DISEASE$ and @PHENOTYPICFEATURE$ associated with rotavirus gastroenteritis.	false
+57ce0e01692d41225f6033dcd5bf7ebe98b13ff9	@DISEASE$ or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal @PHENOTYPICFEATURE$.	false
+27458f2e6d32acc1c65fc2dc0b0e1c57bd8f3308	Camurati-Engelmann disease or @DISEASE$ is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal @PHENOTYPICFEATURE$.	false
+83b4a0ee0442db7007f78a7014afe137fdbfc46d	@DISEASE$ is a rare generalized progressive bone affection which causes combined hearing loss, facial palsy and @PHENOTYPICFEATURE$.	false
+bbf45b010cfdd39dd38ecbae8f18b23a437f4bd5	Two patients with @DISEASE$ and concomitant @PHENOTYPICFEATURE$ are presented.	false
+39235469c1c1d2bf39c0b06b96a311198ade0069	@DISEASE$ is an oromandibular hypogenesis syndrome with associated @PHENOTYPICFEATURE$.	false
+fbe2e0e3238d88223a3928a00e462a1c44efa48e	The lipid phosphatase gene FIG4 is responsible for Yunis-@DISEASE$?n syndrome and Charcot-Marie-Tooth disease Type 4J, a @PHENOTYPICFEATURE$.	false
+3485bc6013b71b1c34be1f1bb98e50a1bd9894cf	@DISEASE$ is a movement disorder that is characterized by involuntary masticatory and/or lingual muscle @PHENOTYPICFEATURE$.	false
+42b43e2c678cb8a86dc02519936a95bb58722999	We describe seven patients presenting respectively @DISEASE$, radicular myoclonus, tremor, segmental dystonia, lower limbs dystonia, segmental @PHENOTYPICFEATURE$ and tremor, of the body parts previously exposed to traumatic injuries.	false
+2dc6969e941786bbec5b5d6d4975fadff36b186d	This review will examine the current therapeutic indications of BoNT use in the following disorders related to Parkinson's disease: cervical dystonia, blepharospasm and lid apraxia, focal hand dystonia, foot dystonia, laryngeal dystonia, @DISEASE$, camptocormia, hand and jaw @PHENOTYPICFEATURE$, sialorrhea, hyperhidrosis, dysphagia, constipation, and overactive bladder.	false
+4ed713ee8519b2bc6e07a872e5dfaab6e93cf534	A 5-year-old boy with @PHENOTYPICFEATURE$, hepatomegaly and motor weakness due to hepatic @DISEASE$ is described.	false
+90c74fbafb3f9bada5afc6ebb64309c84ace185e	Parapelvic @PHENOTYPICFEATURE$: a distinguishing feature with high prevalence in @DISEASE$.	false
+62c0d45efba698c36a8d4125083248e21d75488a	When clinical symptoms and findings in subjects with @DISEASE$, such as dysmenorrhea, @PHENOTYPICFEATURE$ and menometrorrhagia are compared with these histopathological findings, infiltration depth and spread of adenomyotic foci appear to determine the clinical severity of adenomyosis.	false
+9c8a54044de44a58b3434c698a60d95c8d298f15	CONCLUSIONS Subcutaneous etonogestrel was effective in reducing some symptoms and signs of @DISEASE$, including dysmenorrhea, @PHENOTYPICFEATURE$, serum CA125, and uterine volume.	false
+f79ce0d899cdf362510f099b8677a1b5ff4586f2	In this study, we sought to determine whether resveratrol (RSV), a nonhormonal compound, would suppress the myometrial infiltration, improve @PHENOTYPICFEATURE$ behavior, lower stress level, improve the expression of some proteins known to be involved in adenomyosis, and reduce uterine contractility in a mice model of @DISEASE$.	false
+ef65e895bd5af2f056618f9e221f5690133d5039	In this study, we sought to determine whether resveratrol (RSV), a nonhormonal compound, would suppress the myometrial infiltration, improve @PHENOTYPICFEATURE$ behavior, lower stress level, improve the expression of some proteins known to be involved in @DISEASE$, and reduce uterine contractility in a mice model of adenomyosis.	false
+6752138e4872fd31f55a647572731e52dcc4c2ee	In an effort to search for novel therapeutics for adenomyosis, we sought to determine whether treatment with epigallocatechin-3-gallate (EGCG) would suppress the myometrial infiltration, improve @PHENOTYPICFEATURE$ behavior, lower stress level, and reduce uterine contractility in a mice model of @DISEASE$.	false
+72a1aaa98a2f97b6eb2d1f53babf4ac58e8fc1ac	Preoperative @PHENOTYPICFEATURE$ may be a useful predictor of @DISEASE$.	false
+87b21a19013875ac6e9d53f4a45fdd2524b0ba63	Microcephaly-capillary malformation syndrome (@DISEASE$) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset seizures, profound psychomotor @PHENOTYPICFEATURE$, and multiple cutaneous capillary lesions.	false
+09a6634bb022b24339bacd312ba44c60802a3ff8	@DISEASE$ (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset seizures, profound psychomotor @PHENOTYPICFEATURE$, and multiple cutaneous capillary lesions.	false
+a2a32cace0c1ca043a287620bff3a09db66b5a6c	@DISEASE$ was diagnosed in an infant with @PHENOTYPICFEATURE$ and pancytopenia.	false
+1922a4df2bc8380307367510937662887ae15019	@DISEASE$ (AML) remains difficult to treat due to @PHENOTYPICFEATURE$ heterogeneity and the development of resistance to therapy.	false
+4c88734bc6426d85a483d537fe5ef07f270806df	A 43-year-old man with pancytopenia from chemotherapy for @DISEASE$ developed left scrotal pain, @PHENOTYPICFEATURE$, and rigors.	false
+10f959f84a68d6bb318f396399fb389cf491a2d4	@DISEASE$ presenting with complete paraplegia and bilateral total @PHENOTYPICFEATURE$ due to central nervous system involvement.	false
+434679e2df643228f733352f4370294c2fd012d9	Neutropenic @PHENOTYPICFEATURE$ and severe sepsis in adult @DISEASE$ (AML) patients receiving intensive chemotherapy: Causes and consequences.	false
+e3dce0c35a24e8e83e043f0a8528623e1e035634	Progression to @DISEASE$ or RAEB in transformation was noted in five patients, and increasing @PHENOTYPICFEATURE$ was noted in one CMMoL patient while on protocol.	false
+55e35484adc44ac39d972c14ab3d1db31737f430	A 44-year-old man with @DISEASE$ (AML) was admitted to our hospital with @PHENOTYPICFEATURE$ and neutropenia.	false
+adbe32baa9376ab504e806843fb74d4d39b6b34b	All 3 patients had @DISEASE$, histories of neutropenic @PHENOTYPICFEATURE$, and prolonged hospitalization stays.	false
+a732ef0e76b79e6982280e7f63617fea38ff14cb	@PHENOTYPICFEATURE$ and circulating blasts in older adults with newly diagnosed @DISEASE$: are they valuable factors for therapeutic decision-making?	false
+579ddae460eb8331f0cbb0e8c770fe535ee7f29a	CASE REPORT A 68-year-old male with previously diagnosed @DISEASE$, presented with left scrotal pain, @PHENOTYPICFEATURE$, and rigors.	false
+12bb77fad09cd93c87a11c1ed120527790107092	In obesity, AQP7 is overexpressed in visceral fat,accompanied by portal @DISEASE$ and systemic @PHENOTYPICFEATURE$.	false
+ef671e7648cdee8f09b4a25d379eca0d3b3eca26	@DISEASE$ is a movement disorder, characterized by twisting muscle @PHENOTYPICFEATURE$, that begins in childhood.	false
+091c9d63315778b9f326fb8f72cadb39d4a5b149	We studied 14 patients who had a combination of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4477e780d42dc17c98336dd889c0e75cebd23ea2	We studied an 8-year-old boy of non-Jewish, Mexican-American descent with autosomal-dominant @DISEASE$ who developed rapidly progressive and severe generalized dystonia, hyperpyrexia, myoglobinuria, and @PHENOTYPICFEATURE$.	false
+2c31e6942249697a3b016b1606c18282b7fd8cd4	Our case further extends the spectrum of @PHENOTYPICFEATURE$ in @DISEASE$ and substantiates that there is overlap with infantile Marfan's syndrome.	false
+3d90149387047ff1ed50df3d8cf2b40342413e80	Since the original report, several @DISEASE$ patients have been found to have mitral valve prolapse, structural @PHENOTYPICFEATURE$, and occasionally aortic root dilatations similar to those seen in Marfan syndrome.	false
+b9dd59a39872102ea19156feca9b355241bf7572	While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as @DISEASE$ (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with @PHENOTYPICFEATURE$, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.	false
+8158e8d6bf195ed2bcca062ceab5e0f8fb48ad6a	While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (@DISEASE$) syndrome, characteristic facial features (blepharophimosis, narrow nose with @PHENOTYPICFEATURE$, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.	false
+410218ce5491cebbbd15a11bbc76a667591d5bdb	While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with @PHENOTYPICFEATURE$, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with @DISEASE$, including CCA.	false
+8f3fb97f65cb0367d669f1ac10fe06e6d763a781	Risk factors for @DISEASE$ are similar to those known for hepatocellular carcinoma (HCC), such as cirrhosis, chronic hepatitis B and C, @PHENOTYPICFEATURE$, diabetes, and alcohol.	false
+f437a7969c26ec543b0498909647e20650aef746	Factors influencing @PHENOTYPICFEATURE$ in adult patients with supratentorial @DISEASE$.	false
+bd9afc178ebba52391f25cfb994719e698495450	The incidence and influencing factors of preoperative and postoperative @PHENOTYPICFEATURE$ were evaluated in 101 patients of 45 years or older with supratentorial @DISEASE$.	false
+c53fe53238ba92fa9ba9a5bbd88e2b3d6084d4b2	@PHENOTYPICFEATURE$ at presentation were significantly correlated with pathological grades of @DISEASE$ (p = 0.0318).	false
+1977dbeed1d01870b6d15c86ce1ceb65445d9a45	Pleomorphic xanthoastrocytoma (PXA) is a rare @DISEASE$ that commonly affects children and young adults, and presents with @PHENOTYPICFEATURE$.	false
+9eb0a5c9cbde5fd1d2c9ebf7ed8b1c138d9e727c	Despite this, the investigation of @PHENOTYPICFEATURE$ in adults with @DISEASE$ remains a grey area.	false
+3233dd29bacddf3ad72b2a9fa27b33f4e86db218	Disturbances in these developmental patterns seem to be involved centrally in the pathogenesis of various childhood psychiatric disorders including childhood-onset schizophrenia, attention-deficit/hyperactivity disorder, developmental @PHENOTYPICFEATURE$, @DISEASE$, and bipolar disorder.	false
+29b354b240007ddae54eaafc94f7449ed746f674	No studies met eligibility criteria for cerebral palsy, dystonia, Huntington disease, hydrocephalus, @PHENOTYPICFEATURE$, spina bifida, or @DISEASE$.	false
+a608660afb5f73efe572ff70d9dc7928cfce7466	Nicotine is also being investigated for therapy of ulcerative colitis, Alzheimer's disease, Parkinson's disease, @DISEASE$, @PHENOTYPICFEATURE$, and attention deficit disorder.	false
+2ac3c4824d1dda82d1cf092f3d915352d3087240	It is often stated that stuttering is a common @PHENOTYPICFEATURE$ in individuals with @DISEASE$ (TS).	false
+56c00877e7e139fb7e8bd64df497e525c1a293b9	Specifically, the available proofs concerning the efficacy and safety of these techniques on Autism Spectrum Disorder, Attention-deficit/hyperactivity disorder, @PHENOTYPICFEATURE$, @DISEASE$, and tic disorders are systematically reviewed and discussed.	false
+5e2cd0f4f358b9cfd35b9e09c930f18b524c1a42	This study examined the familial relationship between Gilles de la @DISEASE$ (GTS) and attention deficit disorder (ADD), learning problems, @PHENOTYPICFEATURE$, and stuttering.	false
+a1416c16efd2533dcf99d32709fa14b7844fa35c	Familial relationship between Gilles de la @DISEASE$, attention deficit disorder, learning disabilities, @PHENOTYPICFEATURE$, and stuttering.	false
+ee13939e3b8fc03f5e1c70bf8096158634fc1dfe	Good results of this neurotherapy have been also found in children with ADHD/ ADD, developmental @PHENOTYPICFEATURE$, tics and @DISEASE$, learning difficulties and development disturbances and acquired speech disorders.	false
+704d6c2c222c38a16fb93823ce416d325ff713ba	Recent EEG/ERP research on brain functions in the domains of attention and executive functioning, perception, memory, language, emotion and motor processing in ADHD, autism, childhood-onset schizophrenia, @DISEASE$, specific language disorder and developmental @PHENOTYPICFEATURE$, anxiety, obsessive-compulsive disorder, and depression is reviewed.	false
+9220883ee218cdeb964ef531efff63638c7e6fc1	To describe a previously asymptomatic adult patient of multiple @PHENOTYPICFEATURE$ with cervical split cord malformation type II, tethering of the spinal cord (cervical and lumbar), and intraspinal arachnoid cyst along with @DISEASE$ and situs inversus.	false
+830c52d504377fadcc48cb71757b35a6d3aa3380	The patient probably had Ivemark syndrome with @DISEASE$ (confirmed by chest radiograph), horseshoe kidney (confirmed by 99Tcm DTPA scintigraphy), and @PHENOTYPICFEATURE$ (confirmed on the HIDA scan).	false
+d1ae4d8402a778d18c502d1cf0eb9583eb7cdff8	The case concerns of a 20 years old male with situs viscerum inversus (with @DISEASE$), and symptoms: asthenia, oliguresis, nausea, emesis, myalgia, lower limb @PHENOTYPICFEATURE$ and very high levels of calcium and PTH.	false
+9ffc284da49d5ac07367e53e5f94e33128d13c3d	Although some of the clinical features of this patient are seen in VATER association and sacrococcygeal dysgenesis, the presence of @DISEASE$, facial dysmorphism, radial, renal and @PHENOTYPICFEATURE$ preclude these diagnoses.	false
+99c140a996570c27dd2d430f8934a9df7d4ccba7	@DISEASE$ distal type II associated with facial abnormality, renal abnormality, @PHENOTYPICFEATURE$ and Hirschprung's disease.	false
+db078360a4b91ea5fab8815f087a7084134f85fa	The patient had a history of @DISEASE$ and presented with recurrent, episodic abdominal pain, @PHENOTYPICFEATURE$.	false
+423d11167d0f5ad53af61576960792351d63ff17	We conclude that there is risk of association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9457e7f7bd20948feec89fee1f0c65528628b4bc	To avoid possible @DISEASE$-associated complications of @PHENOTYPICFEATURE$, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up.	false
+78c3dcefaada0df44e8c587deca7e7ce324c5021	The described child manifested the typical dysmorphic features of @DISEASE$ and suffered from serious respiratory distress and @PHENOTYPICFEATURE$ from birth.	false
+536fbcd1a46efb5d89c4e61c9f76c0abffe8d502	@DISEASE$ is a congenital disorder that has been suggested to be associated with @PHENOTYPICFEATURE$.	false
+c5e1892cc506a1b848a79f032944647e9982d239	@DISEASE$ (leprosy) is an ancient condition characterized by @PHENOTYPICFEATURE$ patches that progress to become plaques with hypoesthesia.	false
+89e0841a72b243157b318775644395153e51d606	The postulated mechanism of @PHENOTYPICFEATURE$ vis-a-vis @DISEASE$ lesions is discussed in brief in the context of the presenting unusual association.	false
+c6ebbbd176b661df9068366a252d5ee3c9794360	A multigenerational family with @DISEASE$ characterized by @PHENOTYPICFEATURE$ and mild hand contractures was identified, and exome sequencing was performed on DNA from one of the affected family members.	false
+3ba4fbb939e872f9bcdfd5545b85721ad0eb3473	Knuckle pads have been observed in association with autosomal dominant conditions such as @DISEASE$, Dupuytren's @PHENOTYPICFEATURE$, Ledderhose disease, and Peyronie's disease.	false
+f228fe7bd77b536f781b2443e7c1562c57d6360a	Specialized forms of teratoma with unilateral development of certain tissues, such as struma ovarii, argentaffin tumors, @PHENOTYPICFEATURE$, primary choriocarcinoma of the ovary, pseudomucinous @DISEASE$ and neurogenic cysts are known.	false
+d045accd2bce826b36e90c27cedf97314c8a271f	Pathologic variations in T1 signal hyperintensity may be related to clotting of blood (in hemorrhagic pituitary adenoma, pituitary apoplexy, Sheehan syndrome, or thrombosed aneurysm) or the presence of a high concentration of protein (Rathke cleft cyst, craniopharyngioma, or mucocele), fat (lipoma, dermoid cyst, lipomatous meningioma), calcification (@DISEASE$, chondroma, @PHENOTYPICFEATURE$), or a paramagnetic substance (manganese, melanin).	false
+78934f91a48d9247e64d73436e1ae1d05615e535	The preoperative diagnosis included invasive pituitary adenoma, @PHENOTYPICFEATURE$, osteosarcoma, chondrosarcoma, and @DISEASE$.	false
+b51eddf594c3cdda0973684842e501fcf2e62ed6	@DISEASE$ is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos and @PHENOTYPICFEATURE$.	false
+39573faeb1e39471a1dcad2984be5f244931e668	The cardinal features of @DISEASE$ (MKS) are @PHENOTYPICFEATURE$ and hydrometrocolpos.	false
+f52694572b39dd9786dbe2655fe51601e5e13e62	@DISEASE$ (MKS) is a rare autosomal recessive condition consisting of congenital hydrometrocolpos, @PHENOTYPICFEATURE$ and congenital heart defect.	false
+8e800a2c890807f0f571086408e7656f42034129	@DISEASE$ is an uncommon disease, typically characterized by hydrometrocolpos, @PHENOTYPICFEATURE$ and congenital heart defects.	false
+e967e9b1223ebb1e93d0a6a2a4d9871046eced04	A triad of congenital HMC, @PHENOTYPICFEATURE$, and cardiac anomalies are the cardinal features of @DISEASE$, which is also known as hydrometrocolpos-polydactyly syndrome.	false
+5c5e33a4bccea51d46df42c12b16fbfd376eb3a4	A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of @DISEASE$, which is also known as hydrometrocolpos-@PHENOTYPICFEATURE$ syndrome.	false
+964d2df692a1374e78f1c3d93156f5766b314e21	A combination of hydrometrocolpos, @PHENOTYPICFEATURE$, and cardiac anomlies is the cardinal feature of @DISEASE$.	false
+cc6cec5953a46f53596a2d2cb3f52729e55e65b6	@DISEASE$ is a rare, autosomal, recessive disorder characterized by hydrometrocolpos, post-axial @PHENOTYPICFEATURE$, and congenital heart disease.	false
+c9bfc7388f318b4293cd682e06cda8355152c2e4	A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and @PHENOTYPICFEATURE$ without other findings of Bardet-Biedl or @DISEASE$.	false
+3072189a41eba2f462b7e5c45576e74bf726084b	@DISEASE$ is a rare autosomal recessive disease diagnosed by @PHENOTYPICFEATURE$, hydrometrocolpos, and congenital heart disease.	false
+60e7cbc027cf06a6f3bb517b51e4e992f61e69c9	12,13), mutation of which also causes @DISEASE$ (hydrometrocolpos, post-axial @PHENOTYPICFEATURE$, and congenital heart defects).	false
+2cfa08d07fa34630724815e0910b7ce44355456d	We report here an atypical presentation and location of this @PHENOTYPICFEATURE$ (in the trachea), causing obstruction with a positional ball-valve effect, in a patient with tracheobronchomegaly (@DISEASE$).	false
+c2408305c525e5d5694d281c0a113d00a76d0198	@PHENOTYPICFEATURE$ in adults with severe pulmonary arterial hypertension related to congenital heart defects (@DISEASE$).	false
+fc9f9a5069f6ca9b6dc537558aaae237c7027615	A negative impact of HCV infection on survival after renal transplantation has been linked to extrahepatic complications, including chronic glomerulonephritis, sepsis, @DISEASE$, post-transplantation diabetes mellitus, and @PHENOTYPICFEATURE$ of calcineurin-inhibitors.	false
+6f251e80922dfc638d774fe41ce65e4dc58a6290	Chondroectodermal dysplasia (@DISEASE$) is an uncommon autosomal recessive disorder and one of the short rib @PHENOTYPICFEATURE$ syndromes (SRPS).	false
+4900bf2fceffbae13a6e6ada4f9754b08834e95c	These include the perinatal lethal short-rib @PHENOTYPICFEATURE$ syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (@DISEASE$) phenotypes.	false
+65990080e427261ff9218dac914da1d8cb6ade7e	Significant predictors of @DISEASE$ were not receiving preventive interventions for IAD, presence of a perineal pressure injury, having greater functional limitations in activities of daily living, more perfusion problems, and lesser @PHENOTYPICFEATURE$.	false
+f882b9876306b3cdb235503fce07c4be8469cc05	Significant predictors of IAD were not receiving preventive interventions for @DISEASE$, presence of a perineal pressure injury, having greater functional limitations in activities of daily living, more perfusion problems, and lesser @PHENOTYPICFEATURE$.	false
+663088c427efe699d4c5ca5faf4a69422c8b2ad3	High modulation of @PHENOTYPICFEATURE$ in the upper limbs measured using the MAS, MTS and @DISEASE$ when transitioning to the standing position from either the supine or sitting position demonstrated that posture plays a role in modulating the spasticity of the hemiplegic upper limb in poststroke patients.	false
+cda4e55db7517066d0d05241cb4f4d5d869ab8ec	Afterwards, seizure duration and total @PHENOTYPICFEATURE$ score (@DISEASE$) were assessed for 30 minutes in all animals.	false
+50fc3371b8b51972c0a6eb2793be5b46da24190a	Afterwards, @PHENOTYPICFEATURE$ duration and total seizure score (@DISEASE$) were assessed for 30 minutes in all animals.	false
+725176c5f5ad58fcaa775f6f6ab58e662b3dcbae	The patient with @PHENOTYPICFEATURE$ also had ischial pressure ulcer, and developed @DISEASE$ associated with methicillin-resistant S.?aureus.	false
+071fd4c4dac6357354b293154b8a365722b3a6e4	To evaluate the reliability of a new scale, the Triple Spasticity Scale (@DISEASE$), for assessing @PHENOTYPICFEATURE$ in stroke, through measurement of affected elbow flexors and ankle plantar flexors of hemiplegic patients with stroke, and to compare the new scale with commonly used scales.	false
+94a7d617643fd16d9729e9060185386c32353e5c	Intrahippocampal injection of 0.3 nmol/?l/side ghrelin decreased duration of @PHENOTYPICFEATURE$ and @DISEASE$ induced by PTZ.	false
+76f19896e77228f69e3318b83cf39132e66110cd	Afterwards, duration of @PHENOTYPICFEATURE$ and total seizure score (@DISEASE$) were assessed for 30 minutes in all animals.	false
+fd70f8d414d06df83afa42ab3dcc9c633d8acd34	Afterwards, duration of seizure and total @PHENOTYPICFEATURE$ score (@DISEASE$) were assessed for 30 minutes in all animals.	false
+8e352007863d8efd6608393ebc2b758d02da0086	For each age group, the children were further divided into three subgroups according to the types of @PHENOTYPICFEATURE$ they had: cleft lip/@DISEASE$ (CL), cleft palate only (CP), and cleft lip and palate (CLP).	false
+36acb1ac639088aa6ad8ce5f5bb1b59b303b189e	Features include a prominent forehead, @PHENOTYPICFEATURE$, large dysplastic ears, prominent nasal root, a @DISEASE$ ridge, bilateral metatarsus adductus, and streaks and whorls of hypopigmented skin.	false
+eacf01d663d3becba6ed799ecd81a7b01911d2cc	Infants with cleft lip and palate, left @DISEASE$, combined bilateral cleft lip and palate, @PHENOTYPICFEATURE$, and age <6 months were the important risk factors for difficult laryngoscopy.	false
+c51b6f2e90ed4844a9ccfb8b797bb0654f7ccf49	We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, @PHENOTYPICFEATURE$, broad nasal bridge, median @DISEASE$ ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts.	false
+3f30aac8e58e0f02218c6b159ed2df9dbf75df02	@PHENOTYPICFEATURE$ represent a major clinical burden in patients affected by the lysosomal storage disorder @DISEASE$ (MPSII, OMIM #309900).	false
+86bc0b34e0abd969b0b8ec4b3cca77735fde30a7	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+ed0b905639a22b6b47c07112626fc1e394b24c2e	@DISEASE$ [mucopolysaccharidosis II (MPS II)] is a genetic, metabolic disease of excessive mucopolysaccharide storage leading to mental and @PHENOTYPICFEATURE$, distinctive facial features, and increased incidence of hearing loss.	false
+e2d5b0dac5fc2e22ef41dc11d2410e830a2291fe	@DISEASE$ (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and @PHENOTYPICFEATURE$, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase).	false
+3d002eefb076ed4174303e96a7422b209b661544	@DISEASE$ (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to @PHENOTYPICFEATURE$ as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea.	false
+52c7e184f8fedd0f6446b3af5f0aff4a69ea8b9c	These @PHENOTYPICFEATURE$ may present as solitary, nonhereditary lesions or as @DISEASE$ that are inherited in an autosomal dominant manner.	false
+51cbedd1b231f96a156bd530bece51c8640fef39	@DISEASE$ (HMO) is an autosomal dominant bone disorder characterised by the presence of multiple benign cartilage-capped @PHENOTYPICFEATURE$.	false
+3a26791bb92c6dddce9de02fa3066c62512080c5	These @PHENOTYPICFEATURE$ may be solitary or multiple and occur in hereditary @DISEASE$.	false
+df286e53421be2bede18108b9498662bc43e87e0	Reported complications after tacrolimus conversion included hyperglycemia, @PHENOTYPICFEATURE$, @DISEASE$, infection, and neurologic problems.	false
+5629e76d1009d273024e4104e58eb6159adcf440	Acute tumor lysis syndrome (ATLS) is an entity consisting of combinations of hyperuricemia, lactic acidosis, @PHENOTYPICFEATURE$, hyperphosphatemia, and hypocalcemia and occurring generally in aggressive, rapidly proliferating @DISEASE$ with high tumor burdens.	false
+867bc1a02954537ca4a475dd2cfb2e811ff8e16e	The following significant signals were identified for ATI (reduced therapeutic response, @PHENOTYPICFEATURE$, hypotension, serum sickness, infusion-related reaction, and anaphylactic reaction); for azathioprine (alternaria infection, fungal skin infection, and @DISEASE$); for cyclosporine (neurotoxicity, graft vs. host disease, and thyroid cancer); for cyclophosphamide (disease progression); for daclizumab (cytomegalovirus infection); and for tacrolimus (coma and tremor).	false
+9f5890ab50365b2545c94486e35f942885d3ebc9	As the development of @DISEASE$ is especially common within the HIV population, and @PHENOTYPICFEATURE$ in Castleman disease is particularly common, clinicians should be aware of this phenomenon when the laboratory findings do not fit the clinical picture.	false
+d7b9b055383c7619ceb97b94f3cf1b54107a3138	We describe a 1-year-old female who underwent living-related liver transplantation for @PHENOTYPICFEATURE$ and developed Epstein-Barr virus (EBV)-related posttransplant @DISEASE$.	false
+7cd039b1abde5c8d94136e67121a20a5125f44f4	A unique @DISEASE$ associated with an IgM platelet agglutinin, diffuse @PHENOTYPICFEATURE$, amyloid deposition and excessive urinary excretion of IgG fragments.	false
+47e042b70f42f10bed9c5ed2635d560e3dbe1f34	Possible presentations include perinatal asphyxia; neonatal withdrawal syndrome; sepsis; @DISEASE$; hypoglycemia; neuroimaging abnormalities (corpus callosum and @PHENOTYPICFEATURE$, hemorrhage, white matter lesions); biochemical abnormalities (lactic acidosis, electrolyte disturbances, neurotransmitter abnormalities); and seizure response to pyridoxine, pyridoxal-phosphate, and folinic acid dietary interventions.	false
+7c3b243b1b318b424bd564a4bf20b1541eafddda	Objective @PHENOTYPICFEATURE$ response rates in patients with @DISEASE$ were 36% for MM and 35% for RCC, compared with 11% and 2% in patients without enterocolitis, respectively (P = .0065	false
+4e6cc5cd2e2217ba022e4019f6b2de2b76072214	Refractory lymphocytic @DISEASE$ and @PHENOTYPICFEATURE$ necrosis factor antagonist therapy.	false
+c52c4db979678a28862881b425d9082d83b2ba99	Neutropenic @DISEASE$ is a life threatening complication occurring most frequently after intensive chemotherapy in acute leukemia and solid @PHENOTYPICFEATURE$.	false
+300da6641eee0ce810075b73d87a5bb96fcf2cf0	Neutropenic @DISEASE$ is observed in approximately 25% of patients with acute leukemia, but has been reported rarely in patients with solid @PHENOTYPICFEATURE$.	false
+a73a39319765255a8911e9e6a90fc9829b66857d	Concomitant intestinal actinomycosis, known to produce @PHENOTYPICFEATURE$ lesion without eosinophilia, appears as an attractive natural model in producing tumorous eosinophilic @DISEASE$.	false
+a20bf8b3150d626f354c2c625c41649099419c00	Neutropenic @DISEASE$ (NE) is a complication arising in neutropenic patients with acute leukemia or solid @PHENOTYPICFEATURE$ while treated with intensive chemotherapy.	false
+4c2d3460371c29343842415fcc14c89d2b2702f5	It has been associated with multiple medical problems, including but not limited to leukemia, malignancy of the bowel, other solid @PHENOTYPICFEATURE$, cyclic neutropenia with @DISEASE$, diabetes mellitus, and severe arteriosclerosis.	false
+ec89abaf0aec510083e2558e628b3fa37704bee8	Neutropenic @DISEASE$ is described in two patients undergoing autologous stem cell transplantation for solid @PHENOTYPICFEATURE$.	false
+301afb961df4c4a71c8ae59c06167e567fd58074	She was treated with steroids and immunosuppressive agents for more than 30 years, but multiple complications manifested including ileocecal ulcer, aortic valve regurgitation, @PHENOTYPICFEATURE$, ischemic @DISEASE$, and arteriosclerotic obliterans until her death at the age of 56 from pneumonia.	false
+e9668595facb69da14c061aa31582edaf5ee228e	Mutations responsible for the other three conditions (@PHENOTYPICFEATURE$, alkaptonuria, and @DISEASE$) have been identified, but the mutations responsible for pentosuria remained unknown.	false
+0bd8bf33d5453722a43874a740af1843a0c0221c	Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used @PHENOTYPICFEATURE$, alkaptonuria, @DISEASE$ and pentosuria to illustrate.	false
+86b48f4f65a6852ce77eb8f2c0e495c8f04780cf	In these formerly forgotten, but now famous, dissertations, Garrod first used the expression, 'inborn errors of metabolism', to describe four rare disorders: @PHENOTYPICFEATURE$, alkaptonuria, @DISEASE$, and pentosuria.	false
+9f02d5ec81eb9dda6d8cd3feb5c19af76fcee3cf	The term "inborn error of metabolism" was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+d5ab68e2e4fa74df18804cc661e7e25b519c5deb	Mendelian, biochemical and molecular genetics together have revealed what lies behind the four canonical inborn errors described by Garrod (@PHENOTYPICFEATURE$, alkaptonuria, @DISEASE$ and pentosuria).	false
+6371a506084550955305eab64879a6230253d1ca	@DISEASE$ (TBS, OMIM #107480) is a rare autosomal-dominant malformation syndrome with a combination of anal, renal, limb and @PHENOTYPICFEATURE$.	false
+4b40395bbf1cafc5c44100ef39da7799b667bc21	Townes-Brocks syndrome (@DISEASE$, OMIM #107480) is a rare autosomal-dominant malformation syndrome with a combination of anal, renal, limb and @PHENOTYPICFEATURE$.	false
+1a7417bcac83e76aab556ea0119b0461f0a31466	We performed magnetic resonance imaging (MRI)-based individual morphometric analysis in a subset of subjects to demonstrate that these findings are not explained by age-related @PHENOTYPICFEATURE$ or differences in scalp-to-brain distance that could have affected the @DISEASE$ effects.	false
+f64ed14a44391f37e92ed80ac88114521a390fc7	@DISEASE$ (TBS) is an autosomal dominant developmental disorder characterized by anal and thumb malformations and by @PHENOTYPICFEATURE$ that can affect the three compartments and usually lead to hearing loss.	false
+431a64e92a34fb7993e0236c4be84bf8f1ec1197	Townes-Brocks syndrome (@DISEASE$) is an autosomal dominant developmental disorder characterized by anal and thumb malformations and by @PHENOTYPICFEATURE$ that can affect the three compartments and usually lead to hearing loss.	false
+def429266d5c1372832c42b5abd2c3ed821dd862	We report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a @DISEASE$ phenotype including external @PHENOTYPICFEATURE$, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular hypoplasia, and right preaxial polydactyly as well as an epibulbar dermoid.	false
+60c87fca2f1f9a1a10680d10990515dff61eb1fc	Townes-Brocks syndrome (@DISEASE$) is a rare autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and @PHENOTYPICFEATURE$.	false
+051e08c4c8b48c5ed7e2abae485ec1eebf89f4b9	@DISEASE$ (TBS) is a rare autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and @PHENOTYPICFEATURE$.	false
+c13d9014e3c5c4803cbe61ddeb997a861dbc8e7e	@DISEASE$ is an autosomal dominant multiple malformations syndrome comprising of @PHENOTYPICFEATURE$/hearing loss, limb defects, anal, genitourinary, eye, spine anomalies, heart defects and sometimes mental retardation.	false
+a1b164450167e9cc5dae494714b1565e8a9d2476	The @DISEASE$ (TBS) is comprised of a triad including characteristic anal, thumb, and @PHENOTYPICFEATURE$.	false
+19f5d752175bc68a1aa8779e09e7ab77c9e405de	The Townes-Brocks syndrome (@DISEASE$) is comprised of a triad including characteristic anal, thumb, and @PHENOTYPICFEATURE$.	false
+e771c9e18353f387b4deec5aa5393271a8642999	Mutations in SALL1, the human homolog of the Drosophila spalt gene, result in @DISEASE$, which is characterized by hand/foot, anogenital, renal, and @PHENOTYPICFEATURE$, including sensorineural deafness.	false
+41a41e4711d9f6241fc919f9a62d73013c090c01	@DISEASE$ manifests thumb anomalies, imperforate anus, and @PHENOTYPICFEATURE$.	false
+b8f5e4438844f721e8f23906a4400d2cb1deeeed	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, @PHENOTYPICFEATURE$, and often respiratory failure.	false
+feaae44dfe427d88971d5467999cb3b2f8e97784	Alterations of USH2A, encoding usherin, are responsible for more than 70% of cases of @DISEASE$ (USH2), a recessive disorder that combines moderate to severe hearing loss and @PHENOTYPICFEATURE$.	false
+34638584d4b9d20cb21cf86ec960c807809c5621	We included subjects with neuralgic pain within the distribution of the GAN, and excluded patients with atypical facial @PHENOTYPICFEATURE$, @DISEASE$ neuropathy, or unclear etiology.	false
+be9d65d079799b985dad5eb6ae2b0e8a7fa72029	The @DISEASE$ is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, facial anomalies, and mental retardation.	false
+640e1c3fd5e722e1d85ec1861c37aad75458c0c7	After new attempts to optimize the severe asthma treatment, a questionnaire was applied, and additional tests for factors associated with difficult-to-control asthma, such as environmental and occupational exposure, smoking history, social factors, rhinitis/sinusitis, gastroesophageal reflux disease (GERD), @PHENOTYPICFEATURE$, congestive heart failure (CHF), pulmonary embolism, cystic fibrosis, vocal cord dysfunction, alpha-1 antitrypsin deficiency, and @DISEASE$, were performed.	false
+e7a8883499d75264e30b05e90a5748ebe86b3c1e	The aim of the study was to evaluate the presence and spectrum of @PHENOTYPICFEATURE$ identified by cardiac magnetic resonance (CMR) in subjects in clinical remission of @DISEASE$ (CSS) and granulomatosis with polyangiitis (Wegener's) (WG) with normal ECG and transthoracic echocardiography (TTE).	false
+3238f9d990f577234cea89a1ef79745c6f05d5e1	@DISEASE$ with severe polyradiculoneuropathy and unilateral nerve @PHENOTYPICFEATURE$.	false
+dd7362a65e02b0f1a8efcde3acfa5fdc59ee04ab	To evaluate the effects of immunosuppressive therapy on @PHENOTYPICFEATURE$ observed by cardiac magnetic resonance imaging (CMRI) in patients with @DISEASE$ (CSS).	false
+88bf61a528dc960c62670845533ddfeaf0b8f7bc	@DISEASE$ with nerve @PHENOTYPICFEATURE$ secondary to ATP6B1 gene mutation.	false
+4e8647f36adf2c606f63103419d2605317771e98	Familial @DISEASE$ with neurosensory @PHENOTYPICFEATURE$: early nephrocalcinosis.	false
+bfba03993db1a332bdeb15b16d003545c50d38a4	Audiometric and imaging characteristics of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e76a8efa3b4b112a3c61869b2ace4bd71eba42be	The most common tubulopathies are @DISEASE$ (22.5 %) and classical Bartter syndrome (19.3 %) followed by familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (15.7 %) and Gitelman syndrome (15 %).	false
+70d2cfbce4957e082e54a3580e42a56fb1dc6a61	[@DISEASE$ with neurosensory @PHENOTYPICFEATURE$.	false
+26ed16b20b2af82bc59838be0c7f17bb39191492	Hereditary @DISEASE$ associated with @PHENOTYPICFEATURE$ and cataract.	false
+6be5cf5777a7b83bb62817cca934e72130de81b1	ATP6B1 gene mutations associated with @DISEASE$ and @PHENOTYPICFEATURE$ in a child.	false
+7891600b86ddc434acc90a2d0dc3131e1c615e7e	[@DISEASE$ with nerve @PHENOTYPICFEATURE$].	false
+4a235776e551ee1078ab0cb582be4b3ee7fdc148	@PHENOTYPICFEATURE$ in association with @DISEASE$ among Saudi children.	false
+5f91a367c71aabae533fa3e40140478c7aae12af	Mutations of its B1 or a4 subunit are associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+041138c442d5a43660784aac3fd5dce6d7635dc0	The typical signs and symptoms of the patients consisted of dermatological changes in the lumbosacral region, neurogenic @PHENOTYPICFEATURE$ and @DISEASE$ with disturbed bladder function.	false
+afb9ca97dcc81a37372deb8b7cbf6d5cb8b9901a	Until fairly recently, @PHENOTYPICFEATURE$ was accepted as part of the natural course of a disease with associated sensory loss such as @DISEASE$ or diabetes.	false
+008ff722259dc1074915888a033ac00cc2d19fc5	@DISEASE$: function of equilibrium of 80 cases with @PHENOTYPICFEATURE$.	false
+cbe0cdd31e778c939c126a5a6a28e31d082185b7	Furthermore, @PHENOTYPICFEATURE$ is the most common clinical feature of @DISEASE$ in infants.	false
+aa9002a53100c3d671e0a3a3aba70eeaf754fd1a	A 4 year old patient with @DISEASE$, confirmed serologically, presents with neurosensorial @PHENOTYPICFEATURE$ and a rare association of cardiac anomalies: supravalvar and valvar aortic stenosis and subvalvar pulmonary stenosis.	false
+15e76b1bbb849abca22c1605a657fa232d269432	A 4 year old patient with @DISEASE$, confirmed serologically, presents with neurosensorial deafness and a rare association of @PHENOTYPICFEATURE$: supravalvar and valvar aortic stenosis and subvalvar pulmonary stenosis.	false
+0f72c141b3d4b77571fba6e853cd23ba734daf1c	The most common defects among laboratory-confirmed @DISEASE$ cases were hearing impairment (100%), congenital cataracts (72.7%), microcephaly (72.7%), and @PHENOTYPICFEATURE$ (45.5%).	false
+4e2b766915b4c3d1dc9d7aed16ef459cf5e83643	The most common defects among laboratory-confirmed @DISEASE$ cases were @PHENOTYPICFEATURE$ (100%), congenital cataracts (72.7%), microcephaly (72.7%), and congenital heart defects (45.5%).	false
+d0cd2f8ab4ea5f8db15aec0ad2e161c13b2ff018	CRS cases are no longer typically seen; yet, autistic children often share findings of @DISEASE$ including @PHENOTYPICFEATURE$, congenital heart defects, and to a lesser extent visual changes.	false
+2d707dc26832ad7dd8262257c2ce446269870483	CRS cases are no longer typically seen; yet, autistic children often share findings of @DISEASE$ including deafness, @PHENOTYPICFEATURE$, and to a lesser extent visual changes.	false
+3d613ba7d820a5b562bd98b00db35867de3bcfbf	@PHENOTYPICFEATURE$ of the head and face of children with @DISEASE$.	false
+65aa0f89081e43787edcac3562232cfdc91dc2ba	Patent ductus arteriosus (PDA) is one the most common @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+29c49b4445525e5a1fe667c065e25735d6c8e113	@PHENOTYPICFEATURE$ are the leading cause of neonatal death among patients with congenital rubella syndrome (@DISEASE$).	false
+d0a761ed2f8dc34ebc780864206ac93cab42269f	@PHENOTYPICFEATURE$ are the leading cause of neonatal death among patients with @DISEASE$ (CRS).	false
+1b3e0e8a045606a67d47736e04edd692f52d1504	@DISEASE$ is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, @PHENOTYPICFEATURE$, deafness, and mental retardation.	false
+2ebe2715ebc052e38110e86b010c76abddff1c2d	@DISEASE$ is a devastating syndrome that encompasses a wide variety of disorders, including (but certainly not limited to) cataracts, congenital heart defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+265c62717a76adf48611d72806ebf039f04f0aa5	The clinical manifestations of @DISEASE$ include growth retardation, cardiac defects, cataracts, and @PHENOTYPICFEATURE$.	false
+7fd9d3669b7d9d10949c6aa94bd4d1807caa9ce9	The clinical manifestations of @DISEASE$ include @PHENOTYPICFEATURE$, cardiac defects, cataracts, and hearing impairment.	false
+7d2aa2dfaf13acdb1cc570b4cd6580e70cea5fc2	Our findings suggest that motor deficits in @DISEASE$ ischemia, particularly if minor and reversible, are likely to be due to ischemia-induced @PHENOTYPICFEATURE$ in the internal capsule adjacent to an associated thalamic infarct.	false
+32d9eb542e4c8ed700039e1ed8429fe23ecb7ae1	We describe the imaging findings in an infant with bilateral @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a143d8208193766669396b74f97e0f655a3110c0	@DISEASE$ syndrome with schizencephaly and sudden @PHENOTYPICFEATURE$.	false
+2431228d6e72a83de217e31a93b2ef7a9f3e8fb7	Treatment with @DISEASE$ did not protect the animals against irradiation-induced reduction in oral intake and @PHENOTYPICFEATURE$, or against submandibular hypofunction.	false
+27ab55f3cdb0b94d137a619ff44402f21e71f73c	Haploinsufficiency for SOX2 results in human developmental defects including anophthalmia, @PHENOTYPICFEATURE$ and @DISEASE$, a congenital forebrain defect.	false
+97159026c9660ffb36c44daa3f4a98c2e3a07c03	Bilateral @PHENOTYPICFEATURE$ is a rare entity and association with @DISEASE$ is an even rare condition.	false
+ad050163ad6b0f15204a490057ce2cbd39e861e4	@DISEASE$ associated with bilateral complex @PHENOTYPICFEATURE$.	false
+a0ee7ef423aaf54ade78fb67a401e43668f12150	@DISEASE$ includes @PHENOTYPICFEATURE$ and tracts with absence of the septum pellucidum.	false
+e4c2c244b663df9f2f27f75171f0aaebf4b08446	Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, @PHENOTYPICFEATURE$, anophthalmia, orbital tumors/masses, and @DISEASE$.	false
+9093b01ed442dd9b6e8faa3419cbc2aabab80ad9	Bilateral @PHENOTYPICFEATURE$ with @DISEASE$.	false
+34e46aa6ff655d771144f479c5a016c14a184337	Patients with clinical anophthalmos share a similar constellation of neurological, somatic and neuroradiological abnormalities as patients with @PHENOTYPICFEATURE$, @DISEASE$ and clinical optic nerve hypoplasia.	false
+b2c195ca0955291b74aebb081f316b89b1f66492	A retrospective study cohort was identified of 2,304 patients age 65 years or older, hospitalized with a primary diagnosis of @DISEASE$, acute pulmonary disease (chronic obstructive pulmonary disease, pneumonia/influenza, @PHENOTYPICFEATURE$, or pleural effusion) or sepsis, and a complication of new-onset AF during admission from 1999?to?2015.	false
+a794a5c4486385d9bfc9ea1b8280f392aa4a4b66	It could be shown that therapy with @DISEASE$ inhibitors ameliorates the progressive left @PHENOTYPICFEATURE$ and that this effect is translated into a significant increase of life expectancy.	false
+5762374b4bda0c5ed226fe60b37367ca513a54d3	This study evaluated whether the risk of @DISEASE$ is associated with sleep disorders other than @PHENOTYPICFEATURE$ in Taiwan.	false
+f7ae5b5fd5a87f3d62cc2f5cde9063fd42ab1550	Before the intervention, complication rates due to arrhythmias were increasing, acute coronary syndrome (@DISEASE$) and all-cause mortality decreasing, but were constant for cardiac arrest and heart failure and @PHENOTYPICFEATURE$.	false
+65878b07014db95dbb383d8f3b8d886be19ec68e	A chest X-ray revealed bilateral @PHENOTYPICFEATURE$, suggesting acute chest syndrome (@DISEASE$) complicated with SCD.	false
+11b3a54444484b003a04fc46beeb0dbbb16dc493	In addition, patients who present with the symptom of a?suspected cardiac syncope need the differential diagnosis of an underlying arrhythmia, which may be due to an @DISEASE$ or reduced left ventricular (LV) function and other causes like @PHENOTYPICFEATURE$ or structural heart disease (e.?g.	false
+964a1e71db06c2e93a64997d9cc7784912b7d5c6	We report the case of a young man with rapid onset of @DISEASE$ who presented with simultaneous primary hypothyroidism and adrenal insufficiency associated with acute renal failure, hyponatremia, and @PHENOTYPICFEATURE$.	false
+d5a3fd00b998c74d233149bfcf01bb6162ae45b2	A patient with @DISEASE$ and several high-risk features, including thrombocytopenia, profound anemia, bilateral @PHENOTYPICFEATURE$, staphylococcal sepsis, and pulmonary embolism is presented.	false
+b16d737b29f4ab22837250f8c392ce861bf6d26a	We describe various cardiovascular diseases other than @DISEASE$ (heart failure, @PHENOTYPICFEATURE$, etc.) and noncardiovascular diseases (renal failure, etc.) that may cause elevated troponin levels and give possible explanations and prognostic relevance for this rise.	false
+7685e3ad5627dbb01b249d51d2ef9cecdb991a65	Thrombotic left main coronary artery (LMCA) occlusions usually manifest as acute coronary syndrome (@DISEASE$) with cardiogenic shock, acute @PHENOTYPICFEATURE$, cardiac arrest, fatal arrhythmias or sudden cardiac death.	false
+becdeba1aa83c5d7666d4104a6f9d0bf6b1029d9	Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: @PHENOTYPICFEATURE$, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype-phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and @DISEASE$22q11 syndrome.	false
+c749b258af6ea21b597748ec957228c8c530e85a	X-linked @DISEASE$ and associated intellectual disability, short stature, @PHENOTYPICFEATURE$, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.	false
+0cb07228ca90933cd28cd0c009f4bffeedf9435d	High-resolution array comparative genomic hybridization (aCGH) on these tumours suggests that the increased incidence of ovarian @PHENOTYPICFEATURE$ correlates with the infertility in @DISEASE$-deficient mice and the genomic instability characteristic of FA pathway deficiency.	false
+e6edbee1cf4cf971044a0030079f20ba0275238c	High-resolution array comparative genomic hybridization (aCGH) on these @PHENOTYPICFEATURE$ suggests that the increased incidence of ovarian tumours correlates with the infertility in @DISEASE$-deficient mice and the genomic instability characteristic of FA pathway deficiency.	false
+82ab3b3d18a21c5fd1081ec190534a0f5fea436d	In a cohort of @DISEASE$-deficient mice, we observed decreased overall survival and increased @PHENOTYPICFEATURE$ incidence.	false
+bd5cacf33ee0c803764217b4d3091f2e2e45c516	@DISEASE$-deficient mice are prone to develop ovarian @PHENOTYPICFEATURE$.	false
+befd9c8debdb0065afcfe3d257707b96b7f8650f	Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and @DISEASE$, not commonly associated with @PHENOTYPICFEATURE$.	false
+acc98fd52132f0210b880602afa66a19cdaf72fc	@DISEASE$ is a rare congenital condition characterised by a low platelet count and @PHENOTYPICFEATURE$.	false
+85af588d93ceb13da5d3d71f4730a14bb7ffb3e1	The @DISEASE$ is an inherited disorder characterized by @PHENOTYPICFEATURE$, especially absent radii, and hypomegakaryocytic thrombocytopenia.	false
+045a381fce242c6329058477f0488dfd170aa2a0	Twenty-five patients had @DISEASE$; 22 patients had vertebral, anal, cardiac, tracheoesophageal, renal, and @PHENOTYPICFEATURE$ association; 7 patients had Holt-Oram syndrome; and 1 patient had Fanconi anemia.	false
+aaf4709f51ec1fa6bf578adeea571389b220415f	The original triad of signs, multiple nevoid basal cell carcinomas, jaw cysts and @PHENOTYPICFEATURE$, has been greatly expanded to include intracranial calcification, ovarian fibroma, lymphomesenteric cysts, @DISEASE$ and a whole host of minor and occasional (but valid) associated anomalies.	false
+a8e978f49944503d7b955f8adc9a1eedf0c55eb3	We report a 6-year-old prepubescent girl with NBCCS showing @PHENOTYPICFEATURE$, @DISEASE$, and ovarian fibromas.	false
+5146294bf227023fb96ac9887f647091cbf8c87e	GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as @DISEASE$, @PHENOTYPICFEATURE$, and ovarian fibromas.	false
+fb8246e2859f8ba26b647cad93818de6306693f0	Gorlin syndrome is a rare genetic condition consisting of multiple basal cell nevi associated with other entities such as @DISEASE$, @PHENOTYPICFEATURE$, and ovarian fibromas.	false
+c9d59e5f8783a024f631d824d265d6140a6d2280	Of these, 26 had jaw cysts in combination with other characteristics or neoplasms including basal cell carcinomas, palmar pits, @PHENOTYPICFEATURE$, ocular abnormalities, @DISEASE$, cardiac or ovarian fibromas, calcification of the falx cerebri, polydactyly, cleft lip and/or palate, and agenesis of the corpus callosum or other central nervous system malformations.	false
+da5710ed8c05efe6e882d9f60f9c6609091e836c	Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is an autosomal dominant condition with a wide range of manifestations, including multiple basal cell carcinomas, @DISEASE$, odontogenic keratocysts (OKC) and @PHENOTYPICFEATURE$.	false
+16f9ec15b2b5d646df7dadb6bcf03deb99f8e5ac	The diagnosis for the 27 patients included @DISEASE$ after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), @PHENOTYPICFEATURE$ (3), epilepsy (9) and unknown causes (6).	false
+7251b5fee27cdb2290d3fb9e9fd1f9bf4a1ad8a3	The authors report in this article two male patients with nevoid basal cell carcinoma syndrome: a 22-year-old male patient with multiple odontogenic keratocysts, who had @DISEASE$ at two years and multiple basal cell carcinoma at 10 years of age, and a 15-year-old male patient with @PHENOTYPICFEATURE$ and multiple odontogenic keratocysts in the jaws.	false
+214671b1f7b192ce0efb7e008b4a1046d7c69468	Purine @PHENOTYPICFEATURE$ in a hyperuricosuric subclass of @DISEASE$.	false
+9d062d9df5807d3d500efde126274cfdbd52243a	Direct measure of the de novo @PHENOTYPICFEATURE$ rate in @DISEASE$ and schizophrenia cohorts.	false
+ccb40230532657567788781a36a972f9ada3a58a	Recent research has discovered that a number of genetic risk factors for @DISEASE$ are de novo @PHENOTYPICFEATURE$.	false
+a47cf365b6f1d01101748cc0d0e2315d9a98c5e0	Advanced parental age at the time of conception is associated with increased risk for both @DISEASE$ and de novo @PHENOTYPICFEATURE$.	false
+13b7359a717ee744a2c8427be5f02ba9502325af	[Progress in @DISEASE$: de novo @PHENOTYPICFEATURE$ and CHD8 functions].	false
+fe8c4943fd280adc75a10460d19329be2f0282b5	Prenatal @PHENOTYPICFEATURE$ and @DISEASE$ risk.	false
+2257a8e7f6d10480f7c169a9bb83e3eedaa0b5b1	Comparison of 17 well-characterized individuals enabled identification of a variable syndromic phenotype including ID, @DISEASE$, short stature, microcephaly, cerebral palsy, and @PHENOTYPICFEATURE$.	false
+f1a9bf351ba9fc8ccd7f83bb93f2f8fe785e5eea	Comparison of 17 well-characterized individuals enabled identification of a variable syndromic phenotype including ID, @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, cerebral palsy, and facial dysmorphisms.	false
+87cc8c88e0d08dbaee091a12c2267255f501b2f6	Associations between congenital deafness or @PHENOTYPICFEATURE$ and @DISEASE$ have been found.	false
+64f6f1db1c7fd94410b2d84f40b5feed4e071867	Here, we report a unique case with @PHENOTYPICFEATURE$, developmental delay, complex neurological impairment and spasticity unrelated to @DISEASE$.	false
+64576e6850cc3dd7296d61dac36c281828d42a0a	Their phenotype was characterized by epilepsy, global developmental delay with or without @DISEASE$, common cerebellar dysgenesis, and @PHENOTYPICFEATURE$.	false
+9e2053d11d90899b75f8419b273f3873c042a2b2	Mammary @PHENOTYPICFEATURE$ weights were not different in SPI versus @DISEASE$ and STD fed mice.	false
+0f9a1f8ac71ffe541057e947bf8f2a8c1fd28b2c	The objective of the study was to determine the incidence of invasive fungal disease (@DISEASE$) in children undergoing autologous haematopoietic stem cell transplantation (auHSCT) for solid @PHENOTYPICFEATURE$ (ST).	false
+cbf21b175a18699fb3fd261bf17063031b577103	Clinically, both syndromes are characterized by recurrent bacterial infections, more severe in LAD I. Developmental abnormalities (growth and @PHENOTYPICFEATURE$) constitute a prominent feature of @DISEASE$ and may be attributed to a general defect found in fucose metabolism in LAD II.	false
+daa3d6a655e37a96df49997b26311ba0e85048d3	The use of sedative drugs, @PHENOTYPICFEATURE$ status, higher PAT score, more frequent bowel movements, and loose stool were found to be independent risk factors for @DISEASE$ (P <.05).	false
+e1aae9eb935b3e70bd6b9f9043f015f117d84f74	This patient presents the clinical features of @DISEASE$ (LAD II) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+65d18d630f3e221be987db0831ebbc0b393bb337	This patient presents the clinical features of leukocyte adhesion deficiency type II (@DISEASE$) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+ac1925b0c7e336ddc5785c893c8136d38781a0ce	A patient had bilateral @PHENOTYPICFEATURE$ and severe @DISEASE$ (factor XI deficiency).	false
+6100a14c57f7be2b9f63b1ef98faf99e5a0e3901	@DISEASE$ is an autosomal recessive lysosomal storage disorder, a mucopolysaccharidosis (PMS), characterized by @PHENOTYPICFEATURE$ of glycosaminoglycans.	false
+3c18db043ba0214e6b254646cf34a0cc4d6d50ae	The @DISEASE$-@PHENOTYPICFEATURE$ syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, conductive hearing loss, and occasionally synostoses.	false
+5f331189b3ac944e59df73c8b8633342c0f4882a	Autosomal recessive @DISEASE$, cleft lip/palate, @PHENOTYPICFEATURE$, and syndactyly: the Zlotogora-Ogur syndrome.	false
+4eaf8e45530c2e6320bd15d2b731adcd2f456493	Autosomal recessive @DISEASE$, cleft lip/palate, mental retardation, and @PHENOTYPICFEATURE$: the Zlotogora-Ogur syndrome.	false
+abd93eb2815530d83dde7fe45425cb692e6a7c1d	It is known with various names including @PHENOTYPICFEATURE$-split foot-@DISEASE$-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot.	false
+810aeb010822add525c409cfd688474de093fe38	A 13-year-old @PHENOTYPICFEATURE$ girl with severe cutaneous and osseous syndactyly of the hands and feet, cleft lip/palate, and @DISEASE$ is presented.	false
+2d9dffd5822d7b53df7d5248397744a1d2f7fbe2	A 13-year-old mentally retarded girl with severe cutaneous and osseous @PHENOTYPICFEATURE$ of the hands and feet, cleft lip/palate, and @DISEASE$ is presented.	false
+20008f8db36a6026092a859fec2825c728f12bcb	@PHENOTYPICFEATURE$, @DISEASE$, and cleft lip and palate.	false
+8fbe20c39e556929d4e217eafa8b0d7c2c9b0773	@DISEASE$, cleft lip/palate, and severe cutaneous and osseous syndactyly in a @PHENOTYPICFEATURE$ girl: a new multiple malformation syndrome.	false
+8da6b4c133a2fbe160922825eec957ea81a58d68	@DISEASE$, cleft lip/palate, and severe cutaneous and osseous @PHENOTYPICFEATURE$ in a mentally retarded girl: a new multiple malformation syndrome.	false
+d7af8593c234fb4dd9ef3e1f0bf5161827429e3d	Two Turkish sibs, products of a second cousin marriage, with tetramelic @PHENOTYPICFEATURE$, @DISEASE$, cleft lip and palate, renal anomalies, and mental retardation are reported.	false
+746e351088bd1ecddc5683d6ae3a71387a0aba1f	Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, @DISEASE$, cleft lip and palate, renal anomalies, and @PHENOTYPICFEATURE$ are reported.	false
+0dae3ff51a3289ef05470ec16637017c94882ba4	@PHENOTYPICFEATURE$ and @DISEASE$ in brothers.	false
+bd5a12a650b324df04c286a33d0841b982e98abe	@PHENOTYPICFEATURE$ tendinosum in a normolipemic @DISEASE$ patient.	false
+db074fe65dd41f1f49bbba4fee394634c16d9dcb	@PHENOTYPICFEATURE$, @DISEASE$, and cleft lip/palate.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+c3db9db94f6677d204af462be0423cf7bd258a64	This additional @PHENOTYPICFEATURE$-anti-immune phenomenon present in the cutaneous environment provides a reasonable explanation for frequent occurrence of @DISEASE$ cancers in the skin.	false
+ee4dd69e240ad0e42f124b1dce5082f130c684eb	Patients with @DISEASE$ related bladder cancer may have decreased overall and cancer specific survival because they have more unfavorable @PHENOTYPICFEATURE$ phenotypes than patients in other areas in Taiwan.	false
+54711e51b211c0fd8557de1cdf540d93d4f3b76c	Microarray analysis revealed dysregulation of multiple genes associated with chemoresistance to As(2)O(3) and increased @PHENOTYPICFEATURE$ aggressiveness in a newly established @DISEASE$-resistant ovarian cancer cell line, OVCAR-3/AsR.	false
+0f9c48557c5f693536ef597ad0be5b3b8261c891	Distribution of As2O3 revealed that As2O3 remained at higher concentration in @DISEASE$-treated @PHENOTYPICFEATURE$ tissue than in other organs.	false
+0bbb548612171e8c8f149c5a8bbde12f2086862f	This could have implications for the impact of MRP1 on both tissue-specific susceptibility to @DISEASE$-induced disease and @PHENOTYPICFEATURE$ sensitivity to arsenic-based therapeutics.	false
+4b3b549f7b009e95497725f774af5a28b3df6c25	@DISEASE$ alone increased hepatocellular carcinoma (14%), adenoma (23%) and total @PHENOTYPICFEATURE$ (31%) compared to control (0, 2 and 2%, respectively).	false
+5f758cf3ef588fa78ea05ce7eb353d340981f2a6	@DISEASE$-related @PHENOTYPICFEATURE$ are structurally indistinguishable from those induced by other carcinogens.	false
+6ce5a0575e9bed2f5c7158f24b6c39ff4b4c7dae	@DISEASE$ enhancement of skin @PHENOTYPICFEATURE$ by chronic stimulation of growth factors.	false
+88d3d06bd61a5703e608d15b93fb4d64c943cbd6	Onset of seizures was between 6 weeks and 10 months, and @PHENOTYPICFEATURE$ remitted before the age of 3 years in all patients with @DISEASE$.	false
+b52e639afd7470e26d3a0aafb0b50738e6bab3ae	Onset of @PHENOTYPICFEATURE$ was between 6 weeks and 10 months, and seizures remitted before the age of 3 years in all patients with @DISEASE$.	false
+826fd4a8bfc8f9f29084748d247fa965c417ef0f	The identification of SCN2A mutations in families with only infantile @PHENOTYPICFEATURE$ indicated that BFNIS and @DISEASE$ show overlapping clinical features.	false
+d6e34d6055d4113b6a56fe696d2ed172762d114f	To define this condition, he coined the term "benign familial infantile @PHENOTYPICFEATURE$" (@DISEASE$).	false
+3900bfe545fa353b63ceecc598d2b9986d955c4a	@DISEASE$ is a syndrome recently identified among the @PHENOTYPICFEATURE$ of infancy.	false
+89efcce42ec351621c2a7d1d67c9a3f093a0f015	The identification of SCN2A mutations in families with only infantile @PHENOTYPICFEATURE$ indicated that BFNIS and @DISEASE$ may show overlapping clinical features.	false
+be1871e8e64d58dcdb85892b0abdeef7c637c30c	@DISEASE$ (BFIC) is also one of a neurological disorder characterized by clusters of @PHENOTYPICFEATURE$.	false
+da40d59f6bb9ed978239cf80ded924839cedbccf	Benign familial infantile convulsion (@DISEASE$) is also one of a neurological disorder characterized by clusters of @PHENOTYPICFEATURE$.	false
+237dde2cb51fc334d69a9606637f023d8c18b716	Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile @PHENOTYPICFEATURE$), and recently also in some families with benign familial infantile seizures (@DISEASE$) alone.	false
+b182fec33f06d1c4f123ea3749fc280504282b56	Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile @PHENOTYPICFEATURE$), and recently also in some families with @DISEASE$ (BFIS) alone.	false
+92282ed61cbaddf88b224ad06a62180da710b794	Eleven patients fulfilled the criteria of benign non-familial infantile @PHENOTYPICFEATURE$ (BNFIS), and for three patients, their family pedigrees showed the possibility of benign familial infantile seizures (@DISEASE$).	false
+f966b4b5b5900e8878d7e3b50d9c7fd6fc8f1542	Eleven patients fulfilled the criteria of benign non-familial infantile @PHENOTYPICFEATURE$ (BNFIS), and for three patients, their family pedigrees showed the possibility of @DISEASE$ (BFIS).	false
+614b02b1a2da5e02e338c24589518bb0af1cffaf	@DISEASE$ (BFIE) is a self-limited @PHENOTYPICFEATURE$ disorder that occurs in infancy and has autosomal-dominant inheritance.	false
+c15ccdbfa28a3e28d1f8d95e4aca8a7eadaefdc3	We recruited 26 unrelated Japanese affected with either @DISEASE$ or non-familial benign infantile @PHENOTYPICFEATURE$ and their families, including three families with ICCA.	false
+9f07e4ce1b694949b7c27203455d8cc928e8f4cc	Here, we report a male patient with partial @DISEASE$ phenotypes including global developmental delay, craniofacial anomalies, minor @PHENOTYPICFEATURE$, and micropenis.	false
+d3eebb382d442330f704f99159bb88ee141c8c39	@PHENOTYPICFEATURE$ renal crisis (SRC) was known as a rare and catastrophic syndrome responsible for acute renal failure (ARF) in a context of widespread microvascular disease occurring in progressive systemic sclerosis (@DISEASE$).	false
+c92b84fce60e4d6619c18269acbdbccfb008104e	@PHENOTYPICFEATURE$ renal crisis (SRC) is defined as sudden development of accelerated hypertension, hyperreninemia, and acute renal failure in a patient with progressive systemic sclerosis (@DISEASE$).	false
+24cf83356315d170127803825f64ec7e4c537171	Clinical findings compatible with @DISEASE$ included sclerodactyly and digital ulcers, Raynaud's phenomenon, pulmonary fibrosis and pulmonary @PHENOTYPICFEATURE$, proteinuria and renal mesangial reaction, and myocarditis.	false
+ce6e5e27182321e2e500b962a3042f8eed992735	The disease presents in a variety of forms, ranging from the most aggressive progressive systemic sclerosis (@DISEASE$), to the three less aggressive, CREST syndrome, morphea, and the more localized form, linear @PHENOTYPICFEATURE$.	false
+05ff2d8cf333ec952a7a8790f584c6bfa38b8e2f	HLA in systemic scleroderma (@DISEASE$) and familial @PHENOTYPICFEATURE$.	false
+1a53f82c7586fb82980e8472e4b729a0597f524e	@DISEASE$ with diffuse paroxysmal @PHENOTYPICFEATURE$.	false
+49854315dd11771248ca4ba57d3def031a4e96e9	Together, these findings suggested that autonomous secretion of cortisol from the @PHENOTYPICFEATURE$ suppressed the HPA axis of the patient, thereby triggering the probable post-operative @DISEASE$.	false
+44f778482d54b7dd731efe4be5db6ada065720e7	Patients with @DISEASE$ may have musculoskeletal symptoms including @PHENOTYPICFEATURE$, myopathy and hyperkalaemic neuromyopathy.	false
+d98534f60e3565f6f058845bf31344d98e1a332e	The therapeutic goals for adults are the prevention of @DISEASE$ and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest @PHENOTYPICFEATURE$.	false
+ac4fd144bf414c22cb9503eb081f22b791f249c0	The recognition of patients with a @PHENOTYPICFEATURE$ that is co-secreting aldosterone and cortisol can affect decisions to treat with glucocorticoids perioperatively to avoid @DISEASE$.	false
+5b81ea02db7ed5943120ad70768054d457c80cad	However, after surgical removal of the adrenal @PHENOTYPICFEATURE$, the patient developed @DISEASE$.	false
+485f49b69751b6dfd163bc58fd6389b6fdf229da	@DISEASE$ is a chronic fungal @PHENOTYPICFEATURE$.	false
+4754afbd9a57a5205c70c5b4f4f27c5a70820b7e	@DISEASE$ is a chronic fungal @PHENOTYPICFEATURE$, mainly affecting the limbs.	false
+c2874253c4208e21ea82e9dc1aee0742a3de27ee	@DISEASE$ is a chronic fungal @PHENOTYPICFEATURE$, common in tropical and subtropical areas and rare in North Africa.	false
+c974139bf961dc18bfe83e5f207467ec8600eb2f	@DISEASE$ is a chronic fungal @PHENOTYPICFEATURE$ that generally presents in the form of verrucous or vegetative lesions on uncovered areas of skin.	false
+27569013c8eb56b0459828e5e7b897fbef411527	Chronic @DISEASE$ is most commonly associated with culture-negative endocarditis and less frequently with infection of vascular grafts, infection of aneurysms, hepatitis, pulmonary disease, osteomyelitis, and @PHENOTYPICFEATURE$.	false
+3043b45bc58bebc5133a2558e2fddb81669bfd35	A considerable contribution to the protection of human health is made by the vaccination against salmonellosis and leptospirosis, against vesicular @PHENOTYPICFEATURE$, American equine encephalitis and against other zoonoses spread by arthropods, against ecthyma and stomatitis papulosa as well as against brucellosis, anthrax, @DISEASE$, Newcastle disease and foot-and-mouth disease.	false
+040bbe0576869d9866743d72ad9649384ca80709	A chest X-ray revealed bilateral @PHENOTYPICFEATURE$, suggesting acute chest syndrome (ACS) complicated with @DISEASE$.	false
+6f1af60ee945ad203ad46dafefb5d88ec8bd166d	In the proximate potassium analysis, @PHENOTYPICFEATURE$ occurred more frequently than hypokalemia (16.7% vs. 3%), and was associated with a doubling in SCA/@DISEASE$ risk (adjusted odd ratio: 2.37; 95% confidence interval: 1.33-4.23)	false
+7f12c66b85af8add5d68254cbc83824a3eae7308	Here, we describe a novel guinea pig HF/SCD model using aortic constriction combined with daily ?-adrenergic receptor stimulation (ACi) and show that chronic CGP treatment (ACi plus CGP) attenuates cardiac hypertrophic remodeling, @PHENOTYPICFEATURE$, and interstitial fibrosis and prevents cardiac dysfunction and @DISEASE$.	false
+280573b7a8ec6261e3879df027b072f63aebf449	Here, we describe a novel guinea pig HF/@DISEASE$ model using aortic constriction combined with daily ?-adrenergic receptor stimulation (ACi) and show that chronic CGP treatment (ACi plus CGP) attenuates cardiac hypertrophic remodeling, @PHENOTYPICFEATURE$, and interstitial fibrosis and prevents cardiac dysfunction and SCD.	false
+4db1d32ddc5fc0ca4f87fb925bc796d4c9c9036a	The differential diagnosis of the @DISEASE$ patient includes other diseases with crystalline deposits such as cystinosis, tyrosinemia, Bietti crystalline dystrophy, @PHENOTYPICFEATURE$/gout, multiple myeloma, monoclonal gammopathy, infectious crystalline keratopathy, and Dieffenbachia keratitis.	false
+a1f52a92563fef0198a06c61afab7f4419c9e871	No patients had cardiomyopathy, but @PHENOTYPICFEATURE$ was common among @DISEASE$ patients.	false
+77291b691d201b50927f9b1d311bf19857bdc4b0	Of 73 @DISEASE$ subjects, 32 had left @PHENOTYPICFEATURE$, 11 had hypertrophy, and 25 had elevated RVP.	false
+ddc1be45026e6c9d44a7dd0c2dca87d1fa142636	The results of amide-related spectral absorbance analysis demonstrated that the @PHENOTYPICFEATURE$ fluid of the @DISEASE$ group was richer in protein components than that of the neurologic catastrophe (NC) and lethal multiple injuries (LMI) groups.	false
+7461dab0d6ac144c9eef09381cc40010a92865d3	Indeed, middle-aged sickle mice developed @PHENOTYPICFEATURE$ revealing for the first time similarities in the chronic permeability phenotypes of the lung in mice and humans with @DISEASE$.	false
+ba19c68bd4efe42d4ab5bbbcb21e530b43780805	Our data suggest that @DISEASE$ should also be suspected in patients with @PHENOTYPICFEATURE$, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test.	false
+4675746192a779a61042f2e09f355c9b7c3fd451	Opsoclonus-myoclonus-ataxia syndrome (@DISEASE$) is a severe autoimmune central nervous system disorder, which predominantly affects young children and causes lifelong neurological @PHENOTYPICFEATURE$.	false
+4ca099b2c1245a7996cca73f5fe9e00f3283094c	@DISEASE$ (OMS) is a severe autoimmune central nervous system disorder, which predominantly affects young children and causes lifelong neurological @PHENOTYPICFEATURE$.	false
+e2f833ebfb2f7dc0b1a9a2e2e0ad460b17d9c3cc	Most of the disorders studied were myoclonic disorders, such as progressive myoclonus epilepsy, the @DISEASE$, and essential myoclonus, but other movement disorders, interictal @PHENOTYPICFEATURE$ disorders, and different neurological and nonneurological disorders were also included.	false
+4df38c776627a8336fbc69acc433f12d4e7bc7e1	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes @DISEASE$ and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to @PHENOTYPICFEATURE$, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as Landau-Kleffner syndrome, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+c6587dacd9b452c1f3913b2c1d3db02e74188043	Seventeen patients presented with @PHENOTYPICFEATURE$, memory loss, and confusion, compatible with limbic encephalitis (LE), one patient presented with ataxia, one patient presented with status epilepticus, and one patient presented with @DISEASE$ (OMS).	false
+7e58b53945b96a86e0e04d433a96de083892d16f	Seventeen patients presented with @PHENOTYPICFEATURE$, memory loss, and confusion, compatible with limbic encephalitis (LE), one patient presented with ataxia, one patient presented with status epilepticus, and one patient presented with opsoclonus-myoclonus syndrome (@DISEASE$).	false
+101284a9a83487d539b597f90c5b4eefa7dc1244	Patients with neuroblastoma and @DISEASE$ commonly have subsequent developmental problems and, rarely, may have @PHENOTYPICFEATURE$.	false
+806de2172dada87cb85b6bf106f461a66582351d	@DISEASE$ is an uncommon inherited condition characterized by bilateral "scarlike" depressions on the temples and a wide spectrum of associated @PHENOTYPICFEATURE$.	false
+3fce4c7f39632aec0dd8117f465a952de7d27197	We describe a patient who presented with cardiac @DISEASE$ who underwent prophylactic ICD implantation for the prevention of sudden cardiac death during treatment with chemotherapy, in whom life-threatening @PHENOTYPICFEATURE$ was successfully terminated over a 3-year period.	false
+31604913d66d83bab74e444432fa12e1398d9590	It is suggested that @PHENOTYPICFEATURE$ necrosis factor may contribute to development of @DISEASE$.	false
+c93deeaa970712f0d43b9b59c9a80f13f35f97d4	[Effects of @PHENOTYPICFEATURE$ necrosis factor antiserum of the course of @DISEASE$].	false
+409585b97b922bdfd8b36fe1705de89d1035a7fe	However, positive reaction of LY in @DISEASE$ @PHENOTYPICFEATURE$ cells was very weak, or the reaction was negative.	false
+d04a4c76223e6ee3b6682cf9e0d710d25afbf6c1	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+c0ead4f30af8505fae86ad29be0858740253b3c8	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria and @PHENOTYPICFEATURE$, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+34ddc70b8e02c2fbd1ad20552cdd011da03e0060	We performed combined uroflowmetry and external sphincter electromyography in 108 patients (87 males and 21 females); 16 serving as normal controls, 49 with @DISEASE$, 16 with overactive type of @PHENOTYPICFEATURE$, 27 with underactive type of neurogenic bladder.	false
+c4f6be8d92fda23d5ac429326e4b573f0bd32583	We performed combined uroflowmetry and external sphincter electromyography in 108 patients (87 males and 21 females); 16 serving as normal controls, 49 with @DISEASE$, 16 with overactive type of neurogenic bladder, 27 with underactive type of @PHENOTYPICFEATURE$.	false
+f73630ddc731b854ac0308837369387b233cf86a	The complicating factors were the following: urolithiasis, @PHENOTYPICFEATURE$, hydronephrotic transformation, nephroptosis, @DISEASE$.	false
+05565f2796a01e41f80d81fe32592fc83617d7be	Transcutaneous electrovesicogram in normal volunteers and patients with interstitial cystitis, @PHENOTYPICFEATURE$, @DISEASE$, and after cystectomy.	false
+541c6955dc34ea33c518045df31cd1959aa9cb75	Most diagnoses were prostate cancer, erectile dysfunction, @DISEASE$, incontinence, @PHENOTYPICFEATURE$ and chronic discomfort syndromes.	false
+4f2b93bc760ddcb95012e75ffa633c3507bfa983	A huge @DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+239e5d07f93ec0814508d71e695aae8649db5ff7	@PHENOTYPICFEATURE$, @DISEASE$, urethral stricture, neurogenic bladder, retroperitoneal mass and bladder outlet obstruction are some of the frequent causes of hydroureteronephrosis in adults.	false
+6f3ad01d9c0cf3d703c50bb379c50fe30b9ba39d	Pelviureteric junction obstruction, @DISEASE$, urethral stricture, @PHENOTYPICFEATURE$, retroperitoneal mass and bladder outlet obstruction are some of the frequent causes of hydroureteronephrosis in adults.	false
+4e8cb58dca986c7afbbea7d72d1b3557e0863599	Transcutaneous electrovesicogram in normal volunteers, patients with interstitial cystitis, @PHENOTYPICFEATURE$, @DISEASE$, and after cystectomy.	false
+3a073029d99d9909ffcde2b9a719020af21b9c28	It is usually a common complication of @DISEASE$, prostatic cancer, urethral stricture, @PHENOTYPICFEATURE$ or medications (including anticholinergics and antidepressants).	false
+4626bee29d7267a2b4651e924ced3477ee8ec520	Differential diagnosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ab00d6c73dce6f80d27057d4534498dc1b177953	We excluded patients with @DISEASE$, vesicourethral anastomotic stenosis, @PHENOTYPICFEATURE$, and bladder cancer.	false
+6fddeb331b9d9fccc5648ff345c19ff6545c5c22	A 63-year-old Japanese woman with @DISEASE$ (ALS) showed cardiac hypofunction and @PHENOTYPICFEATURE$.	false
+fdf67c63531785cd879e0ba01541fc7f9aa87eef	Recent studies demonstrate an emerging role for the downstream PGE(2) EP2 receptor in diverse models of activity-dependent synaptic plasticity and a significant function in models of neurological disease including @PHENOTYPICFEATURE$, Familial Alzheimer's disease, and @DISEASE$.	false
+d6e1ebbd1fda056309317c92c7c835d68a94d087	@PHENOTYPICFEATURE$ and other cardiovascular abnormalities in @DISEASE$.	false
+c58cb3e76ca89b6daba5605f202247f3bd6fa03f	@DISEASE$ in monozygotic twins: a case report of spontaneous @PHENOTYPICFEATURE$.	false
+53a7cdec71d39ad1b7508e3b86b02690481f2e7f	Here we present data from a pair of monozygotic twins affected by @DISEASE$ resulting from a de novo @PHENOTYPICFEATURE$.	false
+34d05c31fc41af81dc8336672704c0d00d480afa	Progressive @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+a9c10d7f7024e4fcd58da45d529052ea2cb5b9fd	@PHENOTYPICFEATURE$ hyperparathyroidism and hypophosphatemic osteomalacia complicating @DISEASE$.	false
+ab377773e08f518903ca9e47900754d61d737ea1	In eight patients it was associated with @DISEASE$, in three with idiopathic @PHENOTYPICFEATURE$ of infancy, and in five cases it followed an arteritic illness.	false
+ed9ec83cf886f4edeccc1c99bd3d238ccd826862	A 41-year-old woman without evidence of @DISEASE$ presented with a 3-month history of headache, positional @PHENOTYPICFEATURE$, and truncal ataxia.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+e0b37b4d4ded0f0dbcc4c6d597b4feaedc3bb5dd	@PHENOTYPICFEATURE$ were reported in 54/2322 (2.3%) of the NF1 patients, only 4 of whom had Watson syndrome or @DISEASE$-Noonan syndrome.	false
+b336f5f24e1d0f8f8cb4dc1f86f7789f10fb42f2	We report a 52-year-old woman with a type 1 @DISEASE$, presenting with @PHENOTYPICFEATURE$, jaundice and weight loss.	false
+3d4c329e2b1e3da4e9bc99345bff6c40ffe5d28c	Various syndromic forms of @PHENOTYPICFEATURE$ have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), @DISEASE$, and Meckel syndrome.	false
+6a508bf1f7494a2135716101a45c3ce27ae66948	Genetic factors were responsible for 58.5% of the disabilities, with some clusters of prevalent diseases being found within the sampled communities, namely progressive spinal muscular atrophy, spinocerebellar @PHENOTYPICFEATURE$, muscular dystrophy and @DISEASE$.	false
+742c2a8cbb7fc24cba4e0177724fcce598eeb0e6	@DISEASE$ is characterized by the triad of branch retinal arterial occlusions, @PHENOTYPICFEATURE$ and cochlear microangiopathy.	false
+4c10a1eaa3ee783fb01bd11e9d279eaeda344f69	@DISEASE$ is a rare, immune-mediated disease characterized by @PHENOTYPICFEATURE$, branch retinal artery occlusion, and hearing loss.	false
+fa72e89f89e7e85747bce349a0e4922acfe068bd	@DISEASE$ is an orphan disease characterised by @PHENOTYPICFEATURE$, branch retinal artery occlusion and sensorineural hearing loss.	false
+a7e3aabad671238e49555be3aaa4c105e644a043	@DISEASE$ (SS) is the triad of @PHENOTYPICFEATURE$, branch retinal artery occlusions (BRAOs), and hearing loss.	false
+921bc99057644a188494fc28a9fabc89c54f5e5a	@DISEASE$, characterized by a combination of @PHENOTYPICFEATURE$, branch retinal artery occlusions, and hearing loss.	false
+31e5a2641afd093af7d309319818cb85ecb1fe47	@DISEASE$ is typically characterized by the clinical triad of @PHENOTYPICFEATURE$, branch retinal artery occlusions, and hearing loss.	false
+d98845e66b143ecfe0026a3206077873b294394f	@DISEASE$ is a rare, probably immune-mediated endotheliopathy presenting with @PHENOTYPICFEATURE$, sensorineural hearing loss?and retinal arterial occlusions.	false
+6c94e2b1f54cb295ae640261dccc1590b9ac6180	@DISEASE$ is a clinical triad of branch retinal artery occlusions, sensorineural hearing loss, and @PHENOTYPICFEATURE$.	false
+da1e7762c9934a7990cc014c4f1ee05db6aeee9b	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, and branch retinal artery occlusion.	false
+be701672e365380e15a3abed767c6d7c74fdea52	@DISEASE$ is characterized by a clinical triad of @PHENOTYPICFEATURE$, branch retinal artery occlusion, and hearing loss.	false
+f13bda986d149e7b096cf114bbb1dbdddaf5dc2d	@PHENOTYPICFEATURE$ and autistic behavior in @DISEASE$.	false
+0d0e8fd1409bfa199037b40daec5490de8d18226	To determine whether individuals with Joubert syndrome exhibit features of @PHENOTYPICFEATURE$ as defined by the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV), we examined 11 children with @DISEASE$ using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Generic.	false
+83d976f2594ab594d71185c3f4806db1874a77ef	To determine whether individuals with @DISEASE$ exhibit features of @PHENOTYPICFEATURE$ as defined by the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV), we examined 11 children with Joubert syndrome using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Generic.	false
+370b5f476b218d0b1abb56fd8000d687596c374c	@DISEASE$ is not a cause of classical @PHENOTYPICFEATURE$.	false
+491ea0cab235c598e5b6a8c6339298501e88742c	A previous report noted a 27% prevalence of @PHENOTYPICFEATURE$ in @DISEASE$ (JS), raising the question of overlapping etiologies.	false
+a2fb07d8062911528eed84e95f57783b7577bd22	@DISEASE$ surviving to adulthood associated with a progressive @PHENOTYPICFEATURE$.	false
+503fa1c7944b230fa5fb6b00ea73fcc02bf99345	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	false
+b2ee2ab0fbdc6d72668a1150a6f180676a491c91	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+c50d4a59f71db9bd684e133d6542f5d01875d3ca	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as @DISEASE$, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+f6e60b3c5836c43dcd81d899242704df8b43c051	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes @DISEASE$.	false
+0ee0fcd0ddba550d39a520aef614c7b6227dd4f7	Association of common variants in the @DISEASE$ gene (AHI1) with @PHENOTYPICFEATURE$.	false
+7b469b03f18470cbf0a491bc8f4230714263c92a	The key to diagnosing @PHENOTYPICFEATURE$ in @DISEASE$ is to focus on social behaviors, particularly milestones typically achieved very early in life (eg, attending to human voices, showing objects of interest, enjoyment of social interactions).	false
+0c3bed28c9a86c70d9b2aed787f8a056d8fcbf64	Sleep disorders in those with genetic cerebellar disease, such as spinocerebellar ataxia, Friedreich ataxia, @DISEASE$, and ataxia-telangiectasia, include excessive daytime sleepiness, restless legs syndrome, periodic limb movements of sleep, obstructive apnea, central apnea, and rapid eye movement @PHENOTYPICFEATURE$.	false
+0d71a85d88c46712f38e2ee03710d1061d04fd0a	AHI1 is expressed in the brain and plays a key role in neurodevelopment, is involved in @DISEASE$, and has been recently associated with @PHENOTYPICFEATURE$.	false
+4f886da708939921d283ac0defc63ce2a075f132	Clinical expressivity of @DISEASE$ varies from unaffected carriers to bilateral @PHENOTYPICFEATURE$.	false
+befdc2f12829462f9e04a637fcabb0987be0d8d8	Presenting at adolescent age group, @PHENOTYPICFEATURE$ and @DISEASE$ were the predictive risk factors for PID.	false
+7112d284543201498620318e0732d2dcbfe655c4	@PHENOTYPICFEATURE$ granuloma anulare, purpura rheumatica and other forms of purpura, acrodermatitis atrophicans Herxheimer, light dermatoses, eczema, urticaria, psoriasis, xanthomatoses, pemphigus, purpura, hyperglobulinemia Waldenstrom, @DISEASE$].	false
+caf79bc19f86f5515ab413339f8b87eff5ea1c2d	We report a 10-year-old boy with chronic enteroviral meningitis associated with @DISEASE$ (CEMA) and @PHENOTYPICFEATURE$.	false
+35774f1d3fd0dd70087be0556546984d8c227ac3	Here, we report unique de novo TP53 germline variants found in two individuals with an IBMFS accompanied by @DISEASE$, @PHENOTYPICFEATURE$, and microcephaly mimicking DBA and DC.	false
+84f8ed4f5a1743634f97f7ff9c13be1b3da3f98d	All LRBA mutations segregated with the disease because homozygous individuals showed @DISEASE$ and @PHENOTYPICFEATURE$, whereas heterozygous individuals were healthy.	false
+e1731b825f4d3e2d301d9f1e6f04e510205f4cca	Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$, cognitive delay, @DISEASE$, and, in some patients, thrombocytopenia.	false
+8c9e29d2a19cfd77cb7e76d1c008fa7da53ff49e	The examination revealed facial and @PHENOTYPICFEATURE$ and the immunological investigation revealed @DISEASE$, deficiency of the cell, CD4 and CD8 decreased and with inverted relation.	false
+15b1eb6194ad64da0077fbd07599d74262c79d49	Patients with PIL develop hypoalbuminemia, @PHENOTYPICFEATURE$, lymphopenia and @DISEASE$, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea.	false
+fb8b339c4c2677d4cf6108d988c1dd59648ef968	ICF syndrome was considered because of comorbidity of @DISEASE$, facial anomalies, and neuromotor @PHENOTYPICFEATURE$.	false
+03cbfb16b023c1a7858834bb694668ed3ca20221	A syndrome of hypoplastic sinuses, @PHENOTYPICFEATURE$, bronchiectasis, and @DISEASE$ with functional antibody deficiency in twin girls.	false
+719d8767de261fb2b392a26881902eb80d2be979	An 8-year-old boy was admitted with recurrent pulmonary and @PHENOTYPICFEATURE$, was diagnosed as @DISEASE$ and developed epididymo-orchitis.	false
+07b5a8dbdedda27808eebc2b8092d2d5eed1478d	In patients with @DISEASE$, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and @PHENOTYPICFEATURE$ (FHONDA) in the differential diagnosis.	false
+1f473652358d90e77a05e09d9cd70fad33a05cb3	In patients with foveal hypoplasia, @PHENOTYPICFEATURE$ and an absence of systemic findings, consider a recently described syndrome of @DISEASE$, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis.	false
+d3f26fda6ffd99cda226165b856b727a2666009a	In patients with foveal hypoplasia, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of @DISEASE$, optic nerve decussation defects and @PHENOTYPICFEATURE$ (FHONDA) in the differential diagnosis.	false
+36334e2e657d99097a55edaf60513f07bd423425	In patients with @DISEASE$, @PHENOTYPICFEATURE$ and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis.	false
+36bd5d54115e44feffbb524b8db3c3f5d017b09e	Ophthalmic findings included exodeviation (9/10), nasolacrimal obstruction (6/10), shallow orbits (3/10), @PHENOTYPICFEATURE$ (3/10), @DISEASE$ (3/10), upper lid coloboma (2/10), optic disk anomalies (2/10), downslanting palpebral fissures (2/10), microcornea (2/10), hypertelorism (1/10), nystagmus (1/10), and chorioretinal coloboma (1/10).	false
+854b8c74a6d80cd7e7fe416fdeed7a71fa635276	A new phenotype of recessively inherited @DISEASE$ and @PHENOTYPICFEATURE$ maps to a locus on chromosome 16q23.2-24.2.	false
+62f6c37bfc0196bd3b6300127a573e87c86ca530	We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, @DISEASE$, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.	false
+8d394d83a2db75821681509f8f6e9306f10495b0	This study expands on previous reports of the ophthalmic phenotype in 4p- and includes the additional findings of @DISEASE$, nystagmus, shallow orbits, @PHENOTYPICFEATURE$, and upper lid colobomas.	false
+ce78777bee30ceb2f2bc2050e72bec7e6d640606	We report a new recessively inherited syndrome consisting of @DISEASE$, optic nerve decussation defects and @PHENOTYPICFEATURE$, which we have abbreviated to FHONDA syndrome.	false
+e5b328393dc8c4d8ed5ecc7c3e5a55c4c9e13742	Unilateral @DISEASE$ in a child with bilateral @PHENOTYPICFEATURE$.	false
+302d4b59b46ff9d049d2972c241814f1a9f18dcd	The first family (F1) presented with foveal hypoplasia and @PHENOTYPICFEATURE$, and the second family (F2) presented with @DISEASE$ and chiasmal misrouting in the absence of albinism.	false
+49a8cfe4af4b9c062b9bb470557dd35a78e8f699	The first family (F1) presented with @DISEASE$ and @PHENOTYPICFEATURE$, and the second family (F2) presented with foveal hypoplasia and chiasmal misrouting in the absence of albinism.	false
+d2f41c69ecece9ff933af4fd3561c6c1cdac4167	The 10-year odds of death (@DISEASE$) from breast cancer for patients with medial compared with lateral sector @PHENOTYPICFEATURE$ ranged from 1.2 to 1.5 depending on stage.	false
+ba2af8b0f235cfe2ebd86b76d438792a0fa14a2a	The @DISEASE$ (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, @PHENOTYPICFEATURE$ and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia.	false
+2284b9055603da95773dddefd6175aeaf5482273	A male newborn with @DISEASE$, presenting with metopic synostosis, @PHENOTYPICFEATURE$, and total anomalous pulmonary venous return.	false
+dbfe92ef9eef092d4a2980f4939c57c6eca7b8d7	In the present study an attempt of non-invasive differential diagnosis of @DISEASE$ (NPH) and @PHENOTYPICFEATURE$ (BA) was presented using volumetric analysis of CT images of the head by means of VisNow proprietary software.	false
+f8aca53a55f5d48e507689cd5b4a2c4b9b04e219	[Diffusion tensor imaging (DTI) in the differential diagnosis of @DISEASE$ and @PHENOTYPICFEATURE$].	false
+2607d43d05c9d2305f2a5da46dd8de59df90e8ef	Patients with @DISEASE$ after subarachnoid hemorrhage (NPH group, n = 5), @PHENOTYPICFEATURE$ or asymptomatic ventricular dilation (VD group, n = 5), and healthy volunteers (control group, n = 12) were included in this study.	false
+76adb1375beb3cfa4d133f83d488087051498dca	In order to clarify the flow dynamics of cerebrospinal fluid (CSF) in normal pressure hydrocephalus (NPH), a phase-contrast cine magnetic resonance (MR) imaging technique with retrospective cardiac gating was used to measure the quantitative flow velocity of CSF in the aqueduct in patients with @DISEASE$ after subarachnoid hemorrhage (SAH-NPH group, n = 17), idiopathic NPH (1-NPH group, n = 2), asymptomatic ventricular dilatation or @PHENOTYPICFEATURE$ (VD group, n = 7) and healthy volunteers (control group, n = 19).	false
+85ad442514b9f401e2d7a4adcbc67e9ae2883991	Pulmonary manifestations in dogs with @DISEASE$ may be misinterpreted and attributed to neoplasia, pneumonia, @PHENOTYPICFEATURE$, hemorrhage due to disseminated intravascular coagulopathy, adult respiratory distress syndrome and pulmonary thromboembolism.	false
+bc348cdfae539cf115bcab83a057383fa38b0ba1	Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS), and @DISEASE$ (PWS) represent a wide range of congenital @PHENOTYPICFEATURE$ syndromes.	false
+204bc46c51e074557201f03d160c18ecc174ba74	Other typical malformations for MES are @DISEASE$, @PHENOTYPICFEATURE$, ambiguous genitals in the males and club feet.	false
+5af2806d933c2b79090bb544793519f565c9ad63	Leptomeningeal angiomatosis, absent olfactory tracts, @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart disease in a stillborn infant.	false
+84d0f422a34580e918756729c1f68409e7630e90	Similarly, FGF8 mutations have been found in patients with Kallmann-like idiopathic @PHENOTYPICFEATURE$, some also with @DISEASE$.	false
+abea12ba87f7be9724a2b1638934499850a0dff7	A syndrome comprising @DISEASE$, popliteal and intercrural pterygia, digital and @PHENOTYPICFEATURE$.	false
+871fe500ba2f29f7e4d44e45d482bd4f4f8b9319	Hereditary vitreoretinal degeneration, @DISEASE$, deafness, and @PHENOTYPICFEATURE$.	false
+07df31ff3ec4ebfe1d89b642b2aa9700c8728b23	Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, @DISEASE$, @PHENOTYPICFEATURE$, and developmental retardation.	false
+81711c581fea7661c26b72a8a81839cc8946ea6a	The lobster claw defect with ectodermal defects, @DISEASE$, tear duct anomaly and @PHENOTYPICFEATURE$.	false
+1a8229fd1ede3f83b6b6b40a847b3c23274b63bc	Fetal ultrasound findings in the second trimester were CDH, omphalocele, increased nuchal fold, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1af0585c75c4d1ecdb8efa11335c5e69c946c14b	@PHENOTYPICFEATURE$ and @DISEASE$ caused by a balanced translocation producing haploinsufficiency for FGFR1.	false
+ae9a09fd5a919252fe7c629b3a7a024cdec899b6	Malpuech syndrome shows IUGR, hypertelorism, @DISEASE$, micropenis, hypospadias, @PHENOTYPICFEATURE$, and caudal appendage.	false
+d7044b79a72f882158b07bccb19e28567caea890	Although microangiopathic hemolytic anemia is frequently associated with solid @PHENOTYPICFEATURE$, the appearance of a @DISEASE$ with carcinoma is exceptional.	false
+903b811f61f18f53646daa8ff35953839211ebbb	These results are discussed with reference to the cardiac and @PHENOTYPICFEATURE$ that occur in @DISEASE$-deficient animals.	false
+f97f2d36363ec68cb1087cf725ce6811e02f52e4	Copper-64 metabolism in two patients with non-Wilsonian @PHENOTYPICFEATURE$ and @DISEASE$ deficiency.	false
+638345ed04d261636c27c3224d39d7862a26c650	@DISEASE$ deficiency can result in anemia, neutropenia, @PHENOTYPICFEATURE$, and other clinical manifestations.	false
+489e467276cce34442e3c9c5785f5871f8a51e42	@DISEASE$ deficiency can present as a combination of hematological and @PHENOTYPICFEATURE$ and it may masquerade as a myelodysplastic syndrome.	false
+67a057e9ba98c99e658a8a972dbc0085a52c96de	D-penicillamine-induced @DISEASE$ deficiency in suckling mice: @PHENOTYPICFEATURE$ and brain mitochondrial enzyme activities.	false
+f3ea5a19ec329bc30e062ac261a803e32ef15fd1	Over the last couple of decades, dietary @DISEASE$ deficiency has been shown to cause a variety of metabolic changes, including @PHENOTYPICFEATURE$, hypertriglyceridemia, hypertension, and glucose intolerance.	false
+58e9ff6bed221e45bb65641366eab7be96a2ab41	At the age of 9?years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+fe730f5db7969112180508bf60ba07b4370444d4	Biological results were similar to previously described patients, including @PHENOTYPICFEATURE$, elevated alkaline phosphatases and defects in @DISEASE$ metabolism.	false
+48606164c72c87097506448103c6d85bb954b4d9	Osteochondrosis, @PHENOTYPICFEATURE$ and enzootic ataxia associated with @DISEASE$ deficiency in a farmed red deer (Cervus elaphus) herd.	false
+cc1853c63ea016f08eed71ed0323db05ae5164ab	Persistent hyperzincemia without an identifiable external source appears to be a primary metabolic defect, while @DISEASE$ deficiency is a secondary phenomenon, causing hematologic and @PHENOTYPICFEATURE$.	false
+41935704626ca6098874de8951b81ad686b2fe82	Retinoid quantification, especially that of retinoic acid, should provide insight into many diseases, including @DISEASE$ diabetes, @PHENOTYPICFEATURE$, and cancer.	false
+005e2e4086ef5f4b25b3aa846b66fc3272c4ab4a	This assay provides the sensitivity necessary for direct, endogenous RA quantification necessary to elucidate RA function, e.g., in neurogenesis, morphogenesis, and the contribution of altered RA homeostasis to diseases, such as @DISEASE$ diabetes, @PHENOTYPICFEATURE$, and cancer.	false
+4e1bdf8642a21c8ffb46116c0a1d0f397446e0d1	Mutations in several mTOR pathway component genes are known to cause specific monogenic human genetic diseases and this signalling cascade has been shown to be of relevance for @DISEASE$ diabetes, @PHENOTYPICFEATURE$ and hypertrophy.	false
+f280a1b6efa6fe41cddc101d4e1b603f4a2891ff	The assays described here provide for sensitive and rigorous quantification of endogenous RE, ROL, and RAL to elucidate retinoid homeostasis in disease states such as @DISEASE$ diabetes, @PHENOTYPICFEATURE$, and cancer.	false
+fb3e1d5ad97a56b0fbad99495bf9b01c8bd90083	The disease is characterised by severe mental retardation, mild @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, facial, skeletal, genital and gonadal abnormalities.	false
+8be8ccbf35c11f491e17a5d98287dd26fff80aeb	X-linked @DISEASE$ mental retardation (ATR-X) syndrome is associated with profound developmental delay, @PHENOTYPICFEATURE$, genital abnormalities, and alpha thalassemia.	false
+ad49b6e2cb416d04c8b032c468d7a19910541fb1	X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, @PHENOTYPICFEATURE$, genital abnormalities, and @DISEASE$.	false
+bd46181675c6454e78311fc8b9a58de489934224	Constitution mutations in the X-encoded gene give rise to @DISEASE$ mental retardation (ATR-X) syndrome and a variety of related conditions that are often associated with profound developmental delay, @PHENOTYPICFEATURE$, genital abnormalities, and alpha thalassemia.	false
+516c992f8ef9e7b713730406b9752b4bdb36a1a4	Constitution mutations in the X-encoded gene give rise to alpha thalassemia mental retardation (ATR-X) syndrome and a variety of related conditions that are often associated with profound developmental delay, @PHENOTYPICFEATURE$, genital abnormalities, and @DISEASE$.	false
+0014ad622d524a3877312385654e6de748094665	ATRX is a severe X-linked disorder characterized by mental retardation, @PHENOTYPICFEATURE$, urogenital abnormalities and @DISEASE$.	false
+710a02292d0c9eef86501a50678616c429d7e741	X-linked @DISEASE$ mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, @PHENOTYPICFEATURE$, genital abnormalities and alpha thalassaemia.	false
+44b4948e5936c9ae2b0ce84c00537d4a39c003cc	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, @PHENOTYPICFEATURE$, genital abnormalities and @DISEASE$.	false
+11f0cea638dcfccf63e99761a9e553adee6715c8	Mutations in the ATRX gene cause the X-linked alpha thalassemia/mental retardation (ATR-X) syndrome (MIM #301040), a severe clinical condition usually associated with profound ID, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5b30d2b883913fd33fa7d70cf9e7ab4b1cd45f28	Mutations in the ATRX gene cause the X-linked @DISEASE$/mental retardation (ATR-X) syndrome (MIM #301040), a severe clinical condition usually associated with profound ID, @PHENOTYPICFEATURE$ and alpha thalassemia.	false
+56c5e4b856659de2b43958e01648ad3f0699cf10	@DISEASE$ is widely spread in human population and one of the most common types of ?-thalassemia is hemoglobinopathy H which develops with mild microcytic @PHENOTYPICFEATURE$, hepatosplenomegaly and jaundice.	false
+338bad62f736371889627fa6182b0a15d7c250ef	Mutations in ATRX give rise to characteristic developmental abnormalities including severe mental retardation, @PHENOTYPICFEATURE$, urogenital abnormalities and @DISEASE$.	false
+544636114cd11216e64a49f45dd942e96647cd0a	In the diagnostic workup of hemolytic and @PHENOTYPICFEATURE$, HbH disease as a special type of @DISEASE$ should be considered early.	false
+934074d4e203c3de7a39ae263d5ed844f24989b0	X-linked ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome in males is characterized by mental retardation, @PHENOTYPICFEATURE$, @DISEASE$ and urogenital abnormalities, including small testes.	false
+4dec30d9a458381df771de6007433daf0f7bf86b	X-linked ATR-X (@DISEASE$, mental retardation, X-linked) syndrome in males is characterized by mental retardation, @PHENOTYPICFEATURE$, alpha thalassemia and urogenital abnormalities, including small testes.	false
+db83d6b6dca6e6c63316304a08849422e359c96b	It will be also discussed the most recent advancements on the genetics of thyroid diseases which have allowed to characterize the molecular basis of several thyropathies such as congenital hypothyroidism, @DISEASE$, hyperthyroidism or hypothyroidism caused by TSH-receptor alterations, molecular abnormalities of oncogenes or @PHENOTYPICFEATURE$ suppressor genes which are associated with benign or malignant thyroid cell transformation.	false
+919894fa6d2ea440938f437eedd970a40031e4f8	An XXY sex-chromosome constitution in a dog with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+069ec52cab1984f0ba80e5e4508e02997c7548d9	Deletions in 14q24.1q24.3 are associated with @DISEASE$, brachydactyly, and mild @PHENOTYPICFEATURE$.	false
+4f10635e0ee922c9704f255b05e07ae6d78b83ce	Deletions in 14q24.1q24.3 are associated with @DISEASE$, @PHENOTYPICFEATURE$, and mild intellectual disability.	false
+dfa241a928b47ed3e9e739cdfd1cd35ee9fa4153	Among individual birth defects, significant excesses over expected rates were seen for @PHENOTYPICFEATURE$, @DISEASE$, and syndactyly.	false
+937ada430ed81601fb5d1846f8c4bc0eda9a7026	Among individual birth defects, significant excesses over expected rates were seen for spina bifida, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b207bf250394e956b9240b529fca4bf1a5306b48	It is characterized by central apnea, @PHENOTYPICFEATURE$, seizure and @DISEASE$.	false
+0edd0b9d085cae72f405c2a01326cba0306bbae5	It is characterized by central apnea, mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+18beeec7cd02a2ddbf189d5e693bb15b74897eb5	[A new @DISEASE$-@PHENOTYPICFEATURE$].	false
+ec53cf4c706a2c9106442363906b21cb17472009	These patients suffer of many health problems, such as @PHENOTYPICFEATURE$, @DISEASE$, duodenal stenosis, Alzheimer's disease, leukemia, immune system deficiencies, muscle hypotonia and motor disorders.	false
+61549ebbf91e29a68a7f4054c139f503208e179b	These patients suffer of many health problems, such as intellectual disability, @DISEASE$, duodenal stenosis, Alzheimer's disease, leukemia, immune system deficiencies, @PHENOTYPICFEATURE$ and motor disorders.	false
+e581080b0f27f955079c918876ab21786ee74942	Secondary clinical features include developmental delay, speech deficit, @PHENOTYPICFEATURE$/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM) and @DISEASE$.	false
+9185f8e464fcbeb973b381d366f939fd3470af7f	Secondary clinical features include developmental delay, speech deficit, brachydactyly/@PHENOTYPICFEATURE$, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM) and @DISEASE$.	false
+7e4f45867cdd29a669644a5adcae1c688671bf12	Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, @PHENOTYPICFEATURE$, olfactory deficit, diabetes mellitus (DM) and @DISEASE$.	false
+98308763abe0f4236ae8f5d202ba7d84e5edc2fd	@PHENOTYPICFEATURE$, brachydactyly, bone fragility, @DISEASE$, and learning disabilities have also been reported.	false
+ad94318a541bc684ad3e6d31fd027f075b5faefe	Syndactyly, @PHENOTYPICFEATURE$, bone fragility, @DISEASE$, and learning disabilities have also been reported.	false
+3f79a0a5ea4287cfd2ff64f8780d8f37ed4df08f	The patient has @PHENOTYPICFEATURE$, syndactyly, minor facial anomalies, and a @DISEASE$.	false
+09b5648ed39a079576caf78f664a1f5d727054fd	The patient has mental retardation, @PHENOTYPICFEATURE$, minor facial anomalies, and a @DISEASE$.	false
+9b7a1f4669946f8a19a5e510e44af93658e51758	Further common signs include abnormal MRI findings of myelination defects and abnormal corpus callosum, @PHENOTYPICFEATURE$ and coordination problems, autistic features, seizures/abnormal EEG, or @DISEASE$, present in about 20-50% of the patients.	false
+23daf3201dd04b3ec9586672666582ec9961e438	Further common signs include abnormal MRI findings of myelination defects and @PHENOTYPICFEATURE$, ataxia and coordination problems, autistic features, seizures/abnormal EEG, or @DISEASE$, present in about 20-50% of the patients.	false
+62a9751ba98fcce027e2715f721a6b28962e3f3e	Further common signs include abnormal MRI findings of myelination defects and abnormal corpus callosum, ataxia and coordination problems, autistic features, @PHENOTYPICFEATURE$/abnormal EEG, or @DISEASE$, present in about 20-50% of the patients.	false
+3262a3a1a50b534ef6c64104098cc9242861a4ae	Acute @PHENOTYPICFEATURE$ syndrome (AHFS) is an active and continuing process, which starts at admission, but its evolution might be unpredictable, and the prevention of ongoing myocardial damage (@DISEASE$) might be one of the important targets to improve prognosis.	false
+024e1216a641d2797198c51b0dc185cb8ef8806b	We have used local injections of botulinum toxin into the appropriate muscles for treatment of disabling focal or segmental dystonia in 93 patients with torticollis, blepharospasm, oromandibular dystonia (@DISEASE$), limb dystonia, lingual dystonia, and dystonia adductor @PHENOTYPICFEATURE$, in addition to four patients with hemifacial spasm.	false
+edd1694bf570f53eed2818936af52506e4089de5	Elevated concentrations of cardiac troponin T and heart-type fatty acid-binding protein (H-FABP) identify patients with @PHENOTYPICFEATURE$ (CHF) and ongoing myocardial damage (@DISEASE$) who are at increased risk for future cardiac events.	false
+7010e4d7367b21a8dab3c86f892ad935a1f39ea6	@DISEASE$ detected by H-FABP, a marker of membrane damage, is related to activated TNF and the Fas/FasL system, which suggests a pathophysiological role of cardiomyocyte necrosis and/or apoptosis in patients with worsening @PHENOTYPICFEATURE$.	false
+c54f9d594eacb8e40c7d391c6020287055f902fb	Cortical petechial hemorrhage, leukoencephalopathy, and subacute dementia associated with @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+a66d49eefcec83b54968df30ab8f8f724c826612	Retinal @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+1a178ac86f754fa6faca57bca20b4e0858a68ba4	From these data and recent reports on lethal cerebral hemorrhage occurring spontaneously or after neurosurgical procedures in demented old people, @DISEASE$, which is not necessarily associated with systemic amyloidosis or severe (pre)senile @PHENOTYPICFEATURE$, may be considered a rare but important cause of cerebral hemorrhage in the aged.	false
+57364dfaebfdad14f013180fde9e6cf3ecc4c632	We herein report that the clinical, laboratory, and radiographic features and positron emission tomography (PET) imaging may provide valuable clues to the pathogenesis of @DISEASE$ (CAA)-associated @PHENOTYPICFEATURE$, which currently remains unclear.	false
+c62e2f0fae6b63710258aafdab09558b8945807b	Primary @DISEASE$ should be regarded as an important cause of @PHENOTYPICFEATURE$ and fatal cerebrovascular accidents in the elderly.	false
+2e7a5c0a93101ea5839843af79ca145d8693bd8f	@DISEASE$-related inflammation is a subgroup of cerebral amyloid angiopathy that can present with lobar intracerebral hemorrhage, encephalopathy, and @PHENOTYPICFEATURE$; wherein corticosteroids may facilitate favorable outcome.	false
+564102c0ac87edd034d67d85176cce3eae07f64b	@DISEASE$-related inflammation is a subgroup of cerebral amyloid angiopathy that can present with lobar intracerebral hemorrhage, @PHENOTYPICFEATURE$, and seizures; wherein corticosteroids may facilitate favorable outcome.	false
+7feb017012de41bf32f289f1145ca123e12b7633	Inflammatory @DISEASE$ (CAA) typically affects older patients who present with acute or subacute cognitive decline, headache, behavioral change, @PHENOTYPICFEATURE$, and focal neurological deficits.	false
+e032952f6583ce17045bdd5e295d9d0dcc6aa585	The probably causes of the @PHENOTYPICFEATURE$ were thiocolchicoside intake and cerebral microhemorrhages attributed to @DISEASE$.	false
+24ae8506a4806bd95186df53a28838e045e3f6ba	We report a case of inflammatory @DISEASE$ (CAA) that led to rapid cognitive decline, @PHENOTYPICFEATURE$, visual hallucinations, hyperproteinorrachia and right hemispheric leukopathy.	false
+9111e4a2e80ad4ec4eeb71a0d258693df96b95bf	[The use of SWI-MRI to differentiate between @PHENOTYPICFEATURE$ and transient ischemic attacks in a patient with @DISEASE$].	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+dbd0e069326b01f5027f56bb97c43936b9e73817	@DISEASE$) and @PHENOTYPICFEATURE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+ea536743d36feb373d3842fe7c10a5defa04d7e4	Association of childhood @DISEASE$ with atopic diseases and @PHENOTYPICFEATURE$?	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+831a50bbd2ace9097a5c8670f7f79b4daf7de17a	The prevalence of @DISEASE$ among persons with @PHENOTYPICFEATURE$.	false
+b68b3bafa09a9aac4c03c7e3fcba44fb5bdb1d63	@PHENOTYPICFEATURE$ in 50 children with @DISEASE$.	false
+b4e5016c8b03269e1578d1837c13dedd51232de4	@PHENOTYPICFEATURE$ in Singaporean children with @DISEASE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+b4e5016c8b03269e1578d1837c13dedd51232de4	@PHENOTYPICFEATURE$ in Singaporean children with @DISEASE$.	false
+877623184c96f4297a1cac7ce82864ca3ea5e684	The proband postnatally manifested dysmorphic facial features of @DISEASE$, hypertelorism, low-set ears, a broad nasal bridge, a @PHENOTYPICFEATURE$, and overriding toes.	false
+0ae1814283e327be6288a76d12d6f043378c2753	The proband postnatally manifested dysmorphic facial features of @DISEASE$, @PHENOTYPICFEATURE$, low-set ears, a broad nasal bridge, a thin upper lip, and overriding toes.	false
+fd9405a74863ce3f6a8e62d9af6c3d2d3e748a73	Physical examination showed growth retardation, @DISEASE$, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and @PHENOTYPICFEATURE$.	false
+822f2be72aa5d28a9920145a90de044d7496d76b	Physical examination showed growth retardation, @DISEASE$, ptosis, @PHENOTYPICFEATURE$, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism.	false
+7f080e458c4deb94b16daa01ad711bcf69fb77d0	Physical examination showed @PHENOTYPICFEATURE$, @DISEASE$, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism.	false
+b4401e4fe5e9bab846074257c989b39fb68dd754	A ring chromosome 6 has been identified by GTG-banding in a male with @DISEASE$, @PHENOTYPICFEATURE$, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies.	false
+c1662c33bbf6e9a008749a7010448efe7b026b23	A ring chromosome 6 has been identified by GTG-banding in a male with @DISEASE$, growth retardation, seizures, epicanthus, @PHENOTYPICFEATURE$, micrognathia, and other congenital anomalies.	false
+79d4e9f577431f42490f001bf21341a5a32bf330	A ring chromosome 6 has been identified by GTG-banding in a male with @DISEASE$, growth retardation, seizures, epicanthus, hypertelorism, @PHENOTYPICFEATURE$, and other congenital anomalies.	false
+fb570ed7829e1edd9b381df705e4c7eb079a1d5c	Their phenotype included intellectual disability/developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, congenital heart disease, and renal malformations.	false
+d2bc210c743b6f9f00d13f3b03dfe7f91685d49e	Their phenotype included intellectual disability/developmental delay, growth retardation, @DISEASE$, congenital heart disease, and @PHENOTYPICFEATURE$.	false
+87bbdbd9dbc029fed429e2031e7b4974cfa9619f	Trisomy 18 is characterized by: psychomotor disabilities, dysmorphic features, organ malformations, including mental retardation, growth deficiency, poor motor ability, @PHENOTYPICFEATURE$, @DISEASE$, congenital heart defects, and kidney abnormalities.	false
+79f8ea55c5653c3e33844202dd840c1f6f2e4498	Trisomy 18 is characterized by: psychomotor disabilities, dysmorphic features, organ malformations, including mental @PHENOTYPICFEATURE$ deficiency, poor motor ability, micrognathia, @DISEASE$, congenital heart defects, and kidney abnormalities.	false
+a5c0832a28cc99d1a9fe79a03b13900732e30a2b	Trisomy 18 is characterized by: psychomotor disabilities, dysmorphic features, organ malformations, including mental retardation, growth deficiency, poor motor ability, micrognathia, @DISEASE$, @PHENOTYPICFEATURE$, and kidney abnormalities.	false
+e46839bc627a5e89d7b661d9472ad70eee93633b	His craniofacial features showed @DISEASE$, micrognathia, @PHENOTYPICFEATURE$ associated with epicanthus, and low-set ears.	false
+53c2d19e3970ae9dba7e09aa75e98e17f4c5d10d	His craniofacial features showed @DISEASE$, @PHENOTYPICFEATURE$, ocular hypertelorism associated with epicanthus, and low-set ears.	false
+cb050e12f0bda5f892580bbf7963cce2cab0293e	The girls also had growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, triangular facies, and a 46,XY, r(15) karyotype.	false
+6847403c95005875d35f5bcbf0865b1f93aaa3bd	The girls also had @PHENOTYPICFEATURE$, @DISEASE$, hypertelorism, triangular facies, and a 46,XY, r(15) karyotype.	false
+b5998e5a3c67107f93a54cb1273f30b0fa2a09b6	We present a male infant with multiple congenital anomalies including severe @PHENOTYPICFEATURE$, @DISEASE$, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects.	false
+cffb52bba9be602dc589d688a68a2da550f171d4	We present a male infant with multiple congenital anomalies including severe growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects.	false
+595ec6e25091b2acd952c850b97b00301cd53a05	We present a male infant with multiple congenital anomalies including severe growth retardation, @DISEASE$, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex @PHENOTYPICFEATURE$.	false
+eeebb1fcbd2ca41728bd9f925906a723bf952cdd	We present a male infant with multiple congenital anomalies including severe growth retardation, @DISEASE$, hypertelorism, low-set ears, bilateral cleft lip and palate, @PHENOTYPICFEATURE$, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects.	false
+e0fdfb5312210445aa4f9d1d1e0dea9e8fe2f2a5	Of 114 children with oesophageal atresia, 6 had cleft palate and other craniofacial anomalies present included cleft lip, @PHENOTYPICFEATURE$, hypertelorism, @DISEASE$, and hydrocephalus.	false
+c1fde57068b1f64f0dd70b38189180ae3398bc29	Of 114 children with oesophageal atresia, 6 had cleft palate and other craniofacial anomalies present included cleft lip, micrognathia, @PHENOTYPICFEATURE$, @DISEASE$, and hydrocephalus.	false
+01a7bd7d6389aa9900f7c2f6dbbcb53d138d52ba	Of 114 children with oesophageal atresia, 6 had cleft palate and other craniofacial anomalies present included cleft lip, micrognathia, hypertelorism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2d6c61465dd883a33a235e867da8c6e33343350a	We report on five sibs affected by congenital @DISEASE$, @PHENOTYPICFEATURE$, sloping forehead, bitemporal grooving and micrognathia.	false
+8edcff7f0c1bc99faa51044db9743f7a8fb40e83	We report on five sibs affected by congenital @DISEASE$, growth retardation, sloping forehead, bitemporal grooving and @PHENOTYPICFEATURE$.	false
+532bb9ebb0f966a19c8c207e12ef289b4b6b971f	@DISEASE$ is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild @PHENOTYPICFEATURE$.	false
+5fb46667939f010c2d988b11f79744820cadffad	@DISEASE$ is an inherited connective tissue disorder that has systemic sequelae, such as intractable skin ulceration, poor wound healing, recurrent infections, and @PHENOTYPICFEATURE$.	false
+58b00ee0cefd81497c484835250a125fb2bb2b75	Mutations impairing prolidase activity lead in humans to the rare disease @DISEASE$ characterized by severe skin ulcers and @PHENOTYPICFEATURE$.	false
+73031c31bdf2be534e904961d7d9d395eaf1e56b	Coexistence of @DISEASE$ and Friedreich @PHENOTYPICFEATURE$.	false
+a2436fcc5b7be877e3bb8906a3205b48698b0807	Etiology included cortical dysplasia with/without @PHENOTYPICFEATURE$ in 19 patients (83%), sole glioneuronal tumor in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+a1945c4d66f94ad301a1a9bf8335be0f596d5b15	Etiology included cortical dysplasia with/without glioneuronal tumor in 19 patients (83%), sole @PHENOTYPICFEATURE$ in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+73f78a75e8d28607a0835ccd46c8cd997852a99a	This is the first report of such a widespread @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+527f910afb0a560d1d0b143f48d71d4447926530	The abnormality was sometimes associated with calcification (@DISEASE$) or malformation (@PHENOTYPICFEATURE$).	false
+34ffc289fa3c1fe42f2d91e5a6f233a656dd209c	These include subacute sclerosing panencephalitis, lead @PHENOTYPICFEATURE$, @DISEASE$, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis.	false
+b36cf71d0261cb49d3a6679e50fe6285c718d1a4	@DISEASE$, @PHENOTYPICFEATURE$ and Lennox-Gastaut syndrome: mere chance or a new syndrome?	false
+81024e840636070a9eb3a65c654025717af94deb	Absence of @PHENOTYPICFEATURE$, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from @DISEASE$.	false
+c69310f7c183916546bf99df267591f74e33fb24	[Infantil myoclonic hypsarrhythmia @PHENOTYPICFEATURE$ and @DISEASE$].	false
+abc6c73bf942d120d200e1b492b20a28c34afc7b	Two of the patients had @PHENOTYPICFEATURE$ bearing some resemblance to cavernous angiomata, one had a tumor, one had tuberous sclerosis, and one the forme fruste of @DISEASE$.	false
+6574a870288ee0e7fb6fdf4d8a4bcf6084ee5945	Two of the patients had @PHENOTYPICFEATURE$ bearing some resemblance to cavernous angiomata, one had a tumor, one had @DISEASE$, and one the forme fruste of tuberous sclerosis.	false
+8559e03bc0b0b5ca8bd8c7048aa6ed522be9b28d	At present, genotype-phenotype correlations and relationship between tuber burden and neurological @PHENOTYPICFEATURE$ in @DISEASE$ are debatable.	false
+530baa7e72a4c66c3e352e34a714009692c300ca	He was found to have @DISEASE$ and associated hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+dc155dd0d1f93541bccbe957368af9c4dcda24aa	@DISEASE$, Coats'-like retinopathy, @PHENOTYPICFEATURE$ and chromosome 4 duplication: a new association.	false
+eea14d8656dd2d4cedf53e46f6ab413397eaeec7	Mitochondrial cytopathy presenting with @DISEASE$, hypoparathyroidism, @PHENOTYPICFEATURE$, and progressive neurological disease.	false
+456faebbe36a07db7b7c16b0efa82ea92a73dee0	We also observed premature @PHENOTYPICFEATURE$ formation, kidney abnormalities, including albuminuria, @DISEASE$ and progressive kidney disease, and mild hearing loss.	false
+addd4a9b3dd964c184c5af890b2b6213d76cc068	We report four patients in a consanguineous family with focal segmental glomerulosclerosis (@DISEASE$), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or @PHENOTYPICFEATURE$ without hiatus hernia.	false
+bf14738dc8d1a1614e51ef691610506f76877358	We report four patients in a consanguineous family with @DISEASE$ (FSGS), early onset nephrotic syndrome, eventual end-stage renal failure, psychomotor retardation, seizures and microcephaly or @PHENOTYPICFEATURE$ without hiatus hernia.	false
+b137948b68a93b1064d02f8921ddb50cf6ca7389	The loss of the function of the peroxisomal Mpv17-protein and associated imbalanced radical oxygen species (ROS) homeostasis leads to an early onset of @DISEASE$ and @PHENOTYPICFEATURE$ associated with severe degeneration of cochlear structures.	false
+0bb341a60847539d535546faf113efe642cc24d8	The phenotypic combination of steroid-resistant @DISEASE$ (SR-FSGS) and @PHENOTYPICFEATURE$ has been mainly reported in patients with mitochondrial cytopathies, including primary coenzyme Q10 (CoQ10) deficiency.	false
+5eea8f40f0739ce61a43d3675e36edf76718f5ef	The means of Epworth sleepiness scale score, BMI and @PHENOTYPICFEATURE$/Hypopnoea index (@DISEASE$) were respectively 16 + 4, 38.8 + 7 kg/m2 and 51.7 + 28.6.	false
+bb8d8e57027d5c8a9b3ad78d64753b2ee704d45d	The lower limits of the UA obstruction were determined and their relationship with sleep stage, position, age, body mass index and @PHENOTYPICFEATURE$ hypopnea index (@DISEASE$) were investigated.	false
+f8889a76a8f2ea35289f7ed7d9598ea12ae42c6b	One of these viruses, AHS/4SP, consistently caused the pulmonary form of @DISEASE$ with rapid onset of severe @PHENOTYPICFEATURE$ and 100% mortality.	false
+e86af85d234521e74631f42f29ce507d9adea391	In complete @DISEASE$, sternocostoclavicular @PHENOTYPICFEATURE$ is associated with axial and/or peripheral (endosteal, periosteal, enthesopathic, metaplastic) hyperostosis and with psoriasiform or acneform dermatosis.	false
+ebd6d34a010940a944700dca8cc11def0138a325	In complete @DISEASE$, sternocostoclavicular hyperostosis is associated with axial and/or peripheral (endosteal, periosteal, enthesopathic, metaplastic) @PHENOTYPICFEATURE$ and with psoriasiform or acneform dermatosis.	false
+b7e50563b5dba59105057b8adc3ef39aabadbb0d	Body mass index (BMI) and the apnea/hypopnea index (@DISEASE$) were determined for categorization of obesity and @PHENOTYPICFEATURE$ status.	false
+5ddea55ebf74caa70cbc81fc9dc49d9639741cab	@DISEASE$ (TS) patients have @PHENOTYPICFEATURE$ presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies.	false
+d85c0c8bb08958b54baa3c6d9c0c8ceb691a2334	@PHENOTYPICFEATURE$ are present in up to 30% of patients with @DISEASE$ (TS).	false
+598e94c73bb58d02bd0875f637269d74750c7a41	In addition to short stature and @DISEASE$, it is associated with cardiac and @PHENOTYPICFEATURE$.	false
+fee618b77642ee332bef7355c4dda93d5b757240	@PHENOTYPICFEATURE$ in the syndrome of @DISEASE$ and its variants and in Noonan's syndrome.	false
+500e5fabf51d09f8ff0ae57cffccfacc7c9175bd	Cardiovascular and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2b4067e2afb56d8b97d5c2be6b9400ff8c81787d	@PHENOTYPICFEATURE$ and portal hypertension in Ullrich-@DISEASE$.	false
+925f7f8397fd55c79f3adfc61614daa3b8722324	The prevalence of @PHENOTYPICFEATURE$ in @DISEASE$ is 30-40%.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+8c586562de7dd409658f656e3673e24a53ef7f8c	@DISEASE$ is commonly associated with @PHENOTYPICFEATURE$.	false
+dc51979fa06869ed2abb1f7eaa13979261e9aa22	@PHENOTYPICFEATURE$ in patients with @DISEASE$: Is scintigraphy superior to ultrasound?	false
+afc76553bb6a9af035db7ba5f7693a6dfc0afee2	Cockayne syndrome (CS) is a rare disorder characterized by severe @PHENOTYPICFEATURE$, white matter (WM) hypomyelination and @DISEASE$.	false
+387342c96402fa4a42c05e71c785a7e1e22c1a40	The clinical consequences of PTH deficiency or impaired receptor action are multidirectional and include nervous hyperexcitability, paresthesias, cramps, tetany, hyperreflexia, convulsions, @PHENOTYPICFEATURE$, weakened tooth enamel, brittle nails and @DISEASE$.	false
+1ddae3813977347217e3ef3e3dde884336df742c	Apart the candidiasis, since the age of 3, she had convulsions beginning at 6, @PHENOTYPICFEATURE$ at 9, teeth abnormalities, and @DISEASE$.	false
+8183a3f4908d8426d38ec1a9143f04ba33d211d0	A 66-year-old man with diabetes mellitus developed sudden bilateral @DISEASE$ tinnitus, and vertigo 7 days before the onset of dysarthria, facial weakness, and @PHENOTYPICFEATURE$.	false
+3a80970015f417ec3919f2b844e6cba9cb4c5c91	The first patient, an adolescent girl under treatment for hypothyroidism, presented with a very severe form combining advanced @DISEASE$, epilepsy with hemi-@PHENOTYPICFEATURE$ and hemiatrophy of the brain.	false
+fa360b2388181e07c1110fa3b70eda1011fe528e	Toxicities include: 8 (50%) leukopenia; 9 (56%), 1 severe thrombocytopenia; 9 (56%), 2 severe, @DISEASE$ (56%), 3 severe, nausea/@PHENOTYPICFEATURE$; 8 (50%), 1 severe, stomatitis; 7 (44%) conjunctivitis; 6 (38%) alopecia; and 13 (81%), 3 severe, neurotoxicity.	false
+2c87e185354cb1892734d729f414f965aad079cf	Authors report a Launoise-Bensaude-@DISEASE$ case, in a 64 year old man, admitted to a Plastic Surgical Department for @PHENOTYPICFEATURE$, dysphonia, dysphagia, dyspnea.	false
+ef5b6b68739cacdc275f88288a1c4f97dc0fa103	The clinical experience gained so far confirms the great therapeutic potential of EBOO in patients with severe peripheral arterial disease, coronary disease, cholesterol embolism, severe dyslipidemia, @DISEASE$, and sudden @PHENOTYPICFEATURE$ of vascular origin.	false
+a0802bec28103df7d188b5499389f3d5c82be202	We describe a two-generation family with combined clinical features of @DISEASE$ external ophthalmoplegia (PEO), proximal myopathy, pigmentary retinopathy, progressive deafness, @PHENOTYPICFEATURE$, and ragged-red fibers in a muscle biopsy specimen.	false
+e58ecb6e5f26acfd06348de8b91419807c8000e6	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, @DISEASE$, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	false
+240a5bc6fd831a77bc71305456ac781eb79306fb	@DISEASE$ (ZS), the paradigm of human peroxisomal disorders, is characterised by neonatal hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, senorineural @PHENOTYPICFEATURE$, retinal dysfunction, and facial dysmorphism.	false
+a8f93183bec5f0a50b30301b6a6b47abf24d2397	@DISEASE$ in Friedreich's @PHENOTYPICFEATURE$.	false
+6744dbb4128307a33fd0b0513695d1dda463b6b8	The echocardiographic abnormalities included right ventricular dysfunction, @PHENOTYPICFEATURE$, diastolic dysfunction, regional wall motion abnormalities, Doppler abnormalities of pericardial tamponade physiology, left ventricular hypertrophy, @DISEASE$, and aortic abnormalities.	false
+6b175ae2dac288f2737a5d959601cbae2e6c785f	@DISEASE$ in Friedreich's @PHENOTYPICFEATURE$: symmetric or asymmetric?	false
+ea7f8987aaedb46ede61636aafdb4f4fb698976c	@DISEASE$ and Friedreich's @PHENOTYPICFEATURE$.	false
+a6fe2174abc1758a7ce5007a38c3e59033db789c	[@DISEASE$ and neonatal @PHENOTYPICFEATURE$ associated with 3-methylglutaconic aciduria].	false
+36b3c9e5857a26c04873d141a62636ae7205e16e	Gait and postural ataxia, cerebellar @PHENOTYPICFEATURE$, oculomotor dysfunction, musculoskeletal deformities, hearing impairment, @DISEASE$, and diabetes mellitus are also present.	false
+6cf75f73f302b2d07d935da078ff94b942598156	Gait and postural @PHENOTYPICFEATURE$, cerebellar dysarthria, oculomotor dysfunction, musculoskeletal deformities, hearing impairment, @DISEASE$, and diabetes mellitus are also present.	false
+310717f7f0ad7cbff6767bd8c526fc53be36408a	A 16-year-old boy with @DISEASE$, @PHENOTYPICFEATURE$, and balance problems was found to have Friedreich ataxia.	false
+5e32522f66a3808088a81e0a6e6950c52321f4ec	A 16-year-old boy with @DISEASE$, gait abnormalities, and balance problems was found to have Friedreich @PHENOTYPICFEATURE$.	false
+8061f8af2b531fa7b2c8bdae24e9547286b24b31	Septal myectomy for @DISEASE$ in Friedreich's @PHENOTYPICFEATURE$.	false
+a8f93183bec5f0a50b30301b6a6b47abf24d2397	@DISEASE$ in Friedreich's @PHENOTYPICFEATURE$.	false
+415ca0f3be375262a2b62c2e3da6e6c06cdd6f26	Friedreich's @PHENOTYPICFEATURE$ associated with idiopathic @DISEASE$.	false
+c5d53cad80281d6a6f2502d7954262750ad8270c	This chapter considers the most common inherited disorder in individuals of European ancestry (@DISEASE$), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or rare disorders (juvenile hemochromatosis, atransferrinemia, aceruloplasminemia, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's @PHENOTYPICFEATURE$, and X-linked sideroblastic anemia with ataxia).	false
+c4ca2a34c69f24d964e2392add8a91df8aa82d01	Chronic @PHENOTYPICFEATURE$ and @DISEASE$: causal or coincidental association?	false
+00b2c87e59cf64e07dbad6ad84fee8818c2834ec	Conditions studied were breast and ovarian cancers, colon cancers, Alzheimer disease, cystic fibrosis, hearing loss, @DISEASE$, long QT syndrome, spinocerebellar @PHENOTYPICFEATURE$, Tay-Sachs disease, and Canavan disease.	false
+81718a76d2d5bc016f52e3c3047ab93d8a0e0c75	Many of these disorders are characterized by iron overload and include relatively common diseases such as @DISEASE$, rare abnormalities of plasma protein synthesis (atransferrinemia and aceruloplasminemia), and the neuromuscular disease Friedreich @PHENOTYPICFEATURE$.	false
+3999b570b4a02ccbdd961cb72c68c09b98a9b277	This survey reports such an analysis for 15 missense mutations, one insertion and three deletions involved in Leber's hereditary optic neuropathy, Leigh syndrome, mitochondrial neurogastrointestinal encephalomyopathy, Mohr-Tranebjaerg syndrome, @DISEASE$ related to Friedreich's @PHENOTYPICFEATURE$, and hereditary spastic paraplegia.	false
+35cd1f25b78d8e3195c0f924b616223818d46294	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, @DISEASE$, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and glycogen storage disease type III.	false
+d60cdea6966dc303b6df4a2be75c36238167746d	It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+18ae79e8b2cddd0c0ee9f7829441abd655d4dbf4	It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$.	false
+5e20b0ee245f2c0adbfbc4f4e4514bbd8375bdb1	We report a 20 year old man with @PHENOTYPICFEATURE$, microcephaly, unusual facies, numerous pigmented naevi, @DISEASE$, immunodeficiency, and a high pitched voice.	false
+d38ef75aba379569fbb822097eae100db437a6b7	We report a 20 year old man with short stature, microcephaly, @PHENOTYPICFEATURE$, numerous pigmented naevi, @DISEASE$, immunodeficiency, and a high pitched voice.	false
+ba0e1ba2d97cd2e6aff3ea47ba1857ea88511076	The main features include palmoplantar hyperkeratosis, proportionate short stature, @PHENOTYPICFEATURE$, clinodactyly, epilepsy, deafness, and @DISEASE$.	false
+e369c0787245b2866f7127474bb79a620bdea6b6	In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring @PHENOTYPICFEATURE$, scalp hypotrichosis and @DISEASE$.	false
+e0e61861dfd243d46c2e97a71da49b2919156fef	The most striking clinical findings in HED are @DISEASE$, hypotrichosis and hypohidrosis that can lead to episodes of @PHENOTYPICFEATURE$.	false
+f821de81eab254266bb5ac7655c2fbb9d6e5c847	New recessive truncating mutation in LTBP3 in a family with @DISEASE$, @PHENOTYPICFEATURE$, and mitral valve prolapse.	false
+d2f843d6a4057a7f0a08065d13771c43c6ab38c4	A homozygous mutation in this gene has previously been associated with @DISEASE$ and @PHENOTYPICFEATURE$ in a single family.	false
+8e1848656834917d3982898590894ebd411862a7	Microdontia, @DISEASE$, short bulbous roots and root canals with strabismus, @PHENOTYPICFEATURE$, and borderline mentality.	false
+7bdd23c9b3eb9a77e6ec6f4d0cb0335ae371a8a6	A 14-year-old girl presented with @PHENOTYPICFEATURE$, short and stubby fingers, @DISEASE$ and low-set ears.	false
+9c48239c999b48f389ff562ebdf3a1ac34a31b71	Palmoplantar hyperkeratosis with @PHENOTYPICFEATURE$, facial dysmorphism, and @DISEASE$--a new syndrome?: case report.	false
+8a3726d9cf5cd42003189e5ec387c6b55038770a	Palmoplantar hyperkeratosis with short stature, @PHENOTYPICFEATURE$, and @DISEASE$--a new syndrome?: case report.	false
+245e5bb70b943d97bd82b6ddec418c7a545eaa45	In his works, he described the diagnosis and treatment of cataracts, corneal diseases, @PHENOTYPICFEATURE$, @DISEASE$ and myopia.	false
+6f77c29fa0dc6515fe6de47243aa396a340ac0aa	In his works, he described the diagnosis and treatment of @PHENOTYPICFEATURE$, corneal diseases, retinal degeneration, @DISEASE$ and myopia.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+6102ade4b6f1c4e85e8409411ef06a14d429f6fc	@PHENOTYPICFEATURE$ and @DISEASE$ are late complications of pediatric cataract surgery.	false
+2aba9f02225738bbda338caf5f1578b4421fd73c	Glaucoma and @DISEASE$ are late complications of pediatric @PHENOTYPICFEATURE$ surgery.	false
+3b1cfb2d0bb11327cdf49971f1204aed04766435	Extensive retinal dysplasia and @DISEASE$ or cataract may result in @PHENOTYPICFEATURE$ or blindness.	false
+024731f5883137d99dcc24103e07556c9691a166	Extensive retinal dysplasia and @DISEASE$ or @PHENOTYPICFEATURE$ may result in visual impairment or blindness.	false
+e56c5d19d85523aa87eefef3ef4627f240348f37	Bilateral @DISEASE$ associated with bilateral @PHENOTYPICFEATURE$.	false
+92abefc19384f350c1f9007a764c02cdaf16d5b6	Causes of visual loss were @PHENOTYPICFEATURE$, glaucoma, macular oedema, vitreous haemorrhage and @DISEASE$.	false
+25620e71cdb2437f5edd4d6afaced0ff865c943a	Causes of @PHENOTYPICFEATURE$ were cataract, glaucoma, macular oedema, vitreous haemorrhage and @DISEASE$.	false
+77fd5d45ccc0f151194941f4c8c5b60f97eba96e	She had bilateral @DISEASE$ and @PHENOTYPICFEATURE$.	false
+49268646a837e37543ee12e3ca22456eb47ffcbe	Postoperative complications included @PHENOTYPICFEATURE$ formation, glaucoma, optic nerve atrophy, epiretinal membrane formation, and tractional @DISEASE$.	false
+ec9ac61cec25c1818c5037892c1b99603267d789	Postoperative complications included cataract formation, @PHENOTYPICFEATURE$, optic nerve atrophy, epiretinal membrane formation, and tractional @DISEASE$.	false
+ead6b6557fec02911d86772cda6924220f376e27	Histopathological examination of the eyes revealed microphthalmia, microphakia with @PHENOTYPICFEATURE$ formation, myovascularised membrane in the vitreous, @DISEASE$, and retinal dysplasia.	false
+3f5c46c7d14e3a20312aa3320a660f6c4c019eef	Histopathological examination of the eyes revealed @PHENOTYPICFEATURE$, microphakia with cataract formation, myovascularised membrane in the vitreous, @DISEASE$, and retinal dysplasia.	false
+4fed00cf45935f82f306b6d32a43098960a4c426	OPD II is transmitted as an X-linked recessive trait, whereas AO I, AO III, and boomerang dysplasia are considered to result from a new dominant @PHENOTYPICFEATURE$, and @DISEASE$ is inherited as an X-linked dominant trait.	false
+2c29aad1eee6f145e910f8c44b3cb891ace62495	Due to malocclusion and @PHENOTYPICFEATURE$, the patient with @DISEASE$ requires orthodontic treatment with surgical intervention.	false
+3a9666cf027dbd0bb80e8498ea10d509787fed31	The patient was diagnosed with several characteristics typical for @DISEASE$: single-sided hearing loss, malocclusion, and @PHENOTYPICFEATURE$, among others.	false
+074461a56b3117970255e98f404c22dd18e93f43	Orbital @DISEASE$: a proven cause for @PHENOTYPICFEATURE$.	false
+ef7ebe5597d8db9267c12442e9cfa0209c90f7ff	Congenital @PHENOTYPICFEATURE$ associated with myopathy, external @DISEASE$ and NADH dehydrogenase deficiency.	false
+921479b53b18666070b73f5ea796346b48700be3	Incidence of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+7302d7a35f996d97ebd8c2b1954d8fc2a87d5284	One patient each developed ventriculitis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c6af671f6e93f6b1c09fd8e3e6b9eaea63801b6d	The specific postoperative complications discussed include: cerebral edema, intracranial bleeding, @DISEASE$, cerebral infarction, tension pneumocephalus, hypoxia, water and electrolyte imbalances, @PHENOTYPICFEATURE$, endocrine disturbances, hyperthermia, and seizures.	false
+996b1d04dea9130940869943bffb71447a914de8	The specific postoperative complications discussed include: cerebral edema, intracranial bleeding, @DISEASE$, cerebral infarction, tension pneumocephalus, hypoxia, water and electrolyte imbalances, hypoglycemia, endocrine disturbances, @PHENOTYPICFEATURE$, and seizures.	false
+9093b01ed442dd9b6e8faa3419cbc2aabab80ad9	Bilateral @PHENOTYPICFEATURE$ with @DISEASE$.	false
+91cc74db025db19a08b8f2f2cc03d557b4dfc31a	Here we report a rare case of malignant osteopetrosis presented with evidence of @PHENOTYPICFEATURE$, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and @DISEASE$ with resultant optic atrophy.	false
+92931583390fb86f9270113d87f1abc11220e5a5	Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and @DISEASE$ with resultant @PHENOTYPICFEATURE$.	false
+cc31b92786101ba08ab3a229044dc6b5cef8117a	Single cases each of anophthalmos, Beh?et's disease, Hallerman-Streiff syndrome, @DISEASE$, @PHENOTYPICFEATURE$ and optic atrophy were recorded.	false
+925333b538e637821fc19c3070717399e1ab6afc	Single cases each of anophthalmos, Beh?et's disease, Hallerman-Streiff syndrome, @DISEASE$, macular degeneration and @PHENOTYPICFEATURE$ were recorded.	false
+297d5dd4d7856a06dec8c0cf04f1bb98aa2364ea	Neurocysticercosis presenting as @DISEASE$ and bilateral @PHENOTYPICFEATURE$.	false
+629312018054b2ee76fff7bdc0d09602e69f26de	Neuropsychological deficits after treatment of paediatric @PHENOTYPICFEATURE$ are well known, but not the role of @DISEASE$ in these deficits.	false
+322f052c76c02c05c60c99abe652bbb00078edd4	There is some preliminary evidence to suggest that prodromal symptoms of headache, @PHENOTYPICFEATURE$, and anxiety may predict @DISEASE$ symptom presentation during an acute cardiac event.	false
+16d63e1af8ac7d8dac425877a08f2f2da2e7fae4	Within a case-crossover design, using a standardised questionnaire, interviews among 348 ST-elevation myocardial infarction (44%) or high-risk non-ST-elevation @DISEASE$ patients (56%), explored potential precipitants, including: infection (INF)-temperature >38?C and/or respiratory tract, urinary or @PHENOTYPICFEATURE$; inflammation (INFL)-exacerbation of inflammatory conditions; exercise (EX)-moderate to heavy exercise; fast food (FF)-consumption of a meal purchased from a fast food company.	false
+daad6b9c672165642046e50b56779ff9d04687de	Smoking and asthma @PHENOTYPICFEATURE$ and whether they had had @DISEASE$ episodes were determined, and lung function was measured at the initial assessment.	false
+2f2df60734112f75e17924eb0dcfcf4b38b5c1b5	However, considering the high rate of association of isolated hypogonadotropic hypogonadism and Moebius syndrome with @PHENOTYPICFEATURE$, the present case may indicate a causal relationship between isolated @DISEASE$ deficiency and Moebius syndrome, reflecting the disorders in the organ systems derived from a common ectoderm.	false
+3c61fdfa7c366b567402d2d4037f24734f1579c4	Predictive values for definite stroke, early @PHENOTYPICFEATURE$, spontaneous early neurological improvement and death within 1 week after @DISEASE$ were calculated using ROC curves and logistic regression modelling.	false
+30b9b178055b1b5eba8c576c43c3a14d4d5c4878	This is the first report of ossicular fusion and @PHENOTYPICFEATURE$ in @DISEASE$ and the most detailed in vivo evidence of disruption of embryogenesis during malleoincudal joint formation.	false
+af3c6e4967a1c864f3ee1cddc19ff0985d42c055	Alveolar hypoventilation linked to infarcts of the thoracic ribs, thoracoabdominal trauma, subdiaphragmatic pain, the administration of analgesics causing respiratory depression, or @PHENOTYPICFEATURE$, is a frequent cause of @DISEASE$.	false
+5793c7891494101ca6edfcf339c30a04c64a47c4	Metabolic work-up, pursued in a 5-month-old female infant with hypersomnolence, @PHENOTYPICFEATURE$, and global developmental delay, led to the identification of @DISEASE$ (GHB).	false
+97a11580e30dea89771b6a9edd9bc4020070d0e5	Diagnostic challenges in a severely delayed infant with hypersomnolence, @PHENOTYPICFEATURE$ and arteriopathy: a unique case of @DISEASE$ and Williams syndrome.	false
+c9184c3d92ccee33c48da007f72577590a619857	The obese SHR (Koletsky rat; SHR-k) is a unique animal model for the study of microvascular changes associated with genetic obesity, spontaneous @PHENOTYPICFEATURE$, @DISEASE$, and hyperinsulinaemic, non-insulin dependent diabetes mellitus (Type II). 2. Lean and obese SHR-k exhibit retinal vascular changes which have not been previously characterized and are more severe than previously described in other animal models of experimental hypertension or non-insulin dependent diabetes.	false
+c3a5e80c497191cfd8af5719fa6421501c2ce0c5	For angina pectoris, the order was slightly different: the highest risk factor was the simultaneous elevation of serum cholesterol and serum triglycerides, followed by @DISEASE$, hyperlipoproteinemia Type IIb, and finally by isolated @PHENOTYPICFEATURE$.	false
+a09a6eaba2143f9d2f6752bda5bed039be9a97d9	Morphologically, the motor test performance of the HIV-infected patients was similar to that of patients with manifest @PHENOTYPICFEATURE$ (Parkinson's, Huntington's and @DISEASE$).	false
+e5ce9e465389b6389a4e06d28b5c598020ee460a	Samples from four controls (two with no liver pathology, one with @PHENOTYPICFEATURE$, and one with @DISEASE$) were also analysed by atomic absorption spectrophotometry.	false
+236ed39c02d39eda5590067ca30c61de489abff6	@DISEASE$ was common in 3-7 years age group, and @PHENOTYPICFEATURE$ in 4-7 months age group.	false
+d1daae46ca0a358028f6f4a9801f488930bdb3df	The main indications were @PHENOTYPICFEATURE$ (17.6%) followed by @DISEASE$ (14.7%) and cryptogenic cirrhosis (14.7%).	false
+775a732b585cad1218d07341a0fc5528ef1a6911	Indications for orthotopic liver transplantation: with particular reference to hepatomas, @PHENOTYPICFEATURE$, cirrhosis, @DISEASE$ and serum hepatitis.	false
+38b4282e48850617b669b99419b4f24c3fc67bba	Chronic liver failure was mostly caused by @PHENOTYPICFEATURE$ (30%), autoimmune hepatitis (25%) and @DISEASE$ (21%).	false
+ae824816057d224118fd53e22d6a17741bbc5520	The most common cause of LT was @PHENOTYPICFEATURE$ (16.8%), progressive familial intrahepatic cholestasis (16.8%), and @DISEASE$ (13.9%).	false
+2ed183667349ae8ddfc72fe865a8a5618de25f0c	The underlying diseases were alcoholic cirrhosis in 3 cases, viral cirrhosis in 2, @PHENOTYPICFEATURE$ in 1, and @DISEASE$ in 1.	false
+1593410f773ecf6f3b79885a83de61d58ffb7a1c	The etiologies of liver failure were Alagille syndrome, @PHENOTYPICFEATURE$, and fulminant @DISEASE$.	false
+59c4343d9294cfd90b2cb02b72be1c537a8f6860	The most common indications were @PHENOTYPICFEATURE$, @DISEASE$, glycogen storage disease and urea cycle defects.	false
+e443f82f81684453b7c167119433e20e94534675	Post-stroke @PHENOTYPICFEATURE$ (@DISEASE$) is a common complication following stroke.	false
+07f980cf05edb3baba5ccba4a61c1274e442006c	To evaluate the clinical outcomes of percutaneous transvenous embolization (PTE) for portosystemic shunt (@DISEASE$) associated with @PHENOTYPICFEATURE$	false
+81cb3de7e97d81d62d4c5ad55cc3cfbf8f52c0e4	OnabotulinumtoxinA reduces muscle hypertonia associated with poststroke @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1bd893ab07c4e261629546cfa4f85bfe80b8526b	Poststroke @PHENOTYPICFEATURE$ (@DISEASE$) is associated with significant consequences for a patient's functional status and quality of life.	false
+aebdb4bef6ca350021f8b8ff2c0140612c2a433a	Poststroke @PHENOTYPICFEATURE$ (@DISEASE$) may also increase mortality in patients with AIS.	false
+0282b32c33de9aaf388d87497403ca16bbff36d5	The main aim of the study was to document the occurrence and evolution of post-stroke @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1d5ba56397724516d929325a7abd6044c5abd23c	Approximately one-third of @DISEASE$ patients experienced @PHENOTYPICFEATURE$ recurrence within one year.	false
+1921dc71abd00062b280dcb2d07b595e27e57c66	Accordingly, a diagnosis of @DISEASE$ associated with hypoxic @PHENOTYPICFEATURE$ was made.	false
+226014703c10c8250ff5bb98ce5f2c4ddc8b121f	Poststroke @PHENOTYPICFEATURE$ (@DISEASE$)-related disability is emerging as a significant health issue for stroke survivors.	false
+4565383073046a91250ec1dfafcff6372caa6e03	Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two @DISEASE$ families with no @PHENOTYPICFEATURE$, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.	false
+9f23253ce27bf6d407f414aa37fce30e8c404a99	Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two @DISEASE$ families with no mental retardation, at least one gene related to @PHENOTYPICFEATURE$ is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.	false
+ee423d17d262f35d93196d247384e75030e3896a	Based on comparative deletion mapping of eight individuals with the full PSS syndrome including @PHENOTYPICFEATURE$ and two @DISEASE$ families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.	false
+36100abecd1d9bcb785c431921919204f131255a	Based on comparative deletion mapping of eight individuals with the full @DISEASE$ syndrome including @PHENOTYPICFEATURE$ and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.	false
+4f9be0e92c747495a3844ebc3c1e769f2e634763	Based on comparative deletion mapping of eight individuals with the full @DISEASE$ syndrome including mental retardation and two PSS families with no @PHENOTYPICFEATURE$, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.	false
+8849977118399e1412bb88f63804068608402049	Based on comparative deletion mapping of eight individuals with the full @DISEASE$ syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to @PHENOTYPICFEATURE$ is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.	false
+b18d049306694d00cbbc89ce4758eddcffc75918	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation @PHENOTYPICFEATURE$ and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+bc2768d7be27b6ecf8c1ea941a1f35ecee4bd914	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with @PHENOTYPICFEATURE$, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+0ca38c8627772a55b7dd8a3ef094c2cc96dbca27	This review article aims to provide an evidence-based approach to evaluating the patient who presents with acute prolonged, spontaneous @PHENOTYPICFEATURE$ in the context of the acute vestibular syndrome (@DISEASE$).	false
+aa036340accf06e3e5beeec69c62ad0fcbccd27f	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (@DISEASE$) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+645bd5c6a61b4f03461220b7750810ceb13e13c6	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (@DISEASE$) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).	false
+67dffafd228d114a3685a2b7b70b18457c62188b	@DISEASE$ tumor size was 4.47 cm, and presenting symptoms included headache, @PHENOTYPICFEATURE$, cranial neuropathies, and seizures.	false
+508fe73b61d4f603b7071024d574c190db516a9e	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+16f757742783feaad8446d9ccb4967cfaaec5d25	Recent large prospective studies have demonstrated that approximately 11% of patients with isolated cerebellar infarction presented with isolated @PHENOTYPICFEATURE$ mimicking peripheral AVS, and the bedside head impulse test is the most useful tool for differentiating central from peripheral @DISEASE$.	false
+b24d0c6387457307c086ab676a54b5220e623108	Recent large prospective studies have demonstrated that approximately 11% of patients with isolated cerebellar infarction presented with isolated @PHENOTYPICFEATURE$ mimicking peripheral @DISEASE$, and the bedside head impulse test is the most useful tool for differentiating central from peripheral AVS.	false
+a12088ca5316af5b3832f9cf9282f084d8a7ea0a	The severity of @PHENOTYPICFEATURE$ was evaluated by the modified Ashworth scoring (MAS) system, and locomotor function was evaluated by the Basso-Beattie-Bresnahan (BBB) scale/Basso mouse score (@DISEASE$).	false
+1f6db091d28219265d5688b1ab02fb072d48e15c	Although the definition of benign multiple sclerosis (@DISEASE$) remains controversial, it is generally applied to a subgroup of MS patients showing little disease progression, with minimal @PHENOTYPICFEATURE$ decades after disease onset, and is based mainly on changes in motor function.	false
+2cffff943f2d4d8669da098f1498ea906c290e20	A patient with @PHENOTYPICFEATURE$ hemiparesis and ipsilateral cheiro-@DISEASE$ (tingling) due to a single lacunar infarct at the border between the posterior limb of the internal capsule and the corona radiata is described.	false
+dff1c6b1c428bf487e4c68fdbdb186b382dfe787	A patient with ataxic @PHENOTYPICFEATURE$ and ipsilateral cheiro-@DISEASE$ (tingling) due to a single lacunar infarct at the border between the posterior limb of the internal capsule and the corona radiata is described.	false
+4ece8734cc7d9acbaa93a6a1c2b218b3bb50a594	The sensitivity and specificity of the @DISEASE$ (start antibiotics in case of seizure, positive cerebrospinal fluid (CSF) Gram staining, blood neutrophil count ?10 ?10(9)/l, CSF protein level ?80 mg/dl or CSF neutrophil count ?1000 ?10(6)/l) and the Meningitest (start antibiotics in case of @PHENOTYPICFEATURE$, purpura, toxic appearance, PCT level ?0.5 ng/ml, positive CSF Gram staining or CSF protein level ?50 mg/dl) were compared using a McNemar test.	false
+c2ce3f4eaadea85e767c523fe1f0482135d4bd65	The sensitivity and specificity of the @DISEASE$ (start antibiotics in case of @PHENOTYPICFEATURE$, positive cerebrospinal fluid (CSF) Gram staining, blood neutrophil count ?10 ?10(9)/l, CSF protein level ?80 mg/dl or CSF neutrophil count ?1000 ?10(6)/l) and the Meningitest (start antibiotics in case of seizure, purpura, toxic appearance, PCT level ?0.5 ng/ml, positive CSF Gram staining or CSF protein level ?50 mg/dl) were compared using a McNemar test.	false
+03f8c869279a9ca448fe8ae14c01414dcc8ab929	None of the patients experienced @PHENOTYPICFEATURE$ @DISEASE$.	false
+158cad7b1491d444eaa4e2428ab33c6688834965	When compared to @PHENOTYPICFEATURE$ observed with an ADS or @DISEASE$, seizures seen only on video were more often tonic seizures (71% vs. 22%, p < 0.001) and occurred mostly in the beginning or at the end of the night (40% vs. 26%, p < 0.001).	false
+bf9f8c4ab75f472536adcaf523180716c1f4e912	When compared to seizures observed with an ADS or @DISEASE$, @PHENOTYPICFEATURE$ seen only on video were more often tonic seizures (71% vs. 22%, p < 0.001) and occurred mostly in the beginning or at the end of the night (40% vs. 26%, p < 0.001).	false
+ddff47e3d4015a6c7c0fa317787927bb8c5b6555	The occurrence of generalized tonic-clonic seizures (GTCS) preceded by bilateral myoclonic seizures (@DISEASE$) (p = 0.03), a long duration of epilepsy with unsuccessful treatment (p = 0.022), and AED polytherapy (p = 0.023) were identified as significant predictors for a poor long-term @PHENOTYPICFEATURE$ outcome, whereas complete remission of GTCS under AED significantly increased the chance for complete seizure freedom (p = 0.012).	false
+631972c8928f3c1556ac5da6c1d04df8937914ac	The occurrence of generalized tonic-clonic seizures (GTCS) preceded by bilateral myoclonic seizures (@DISEASE$) (p = 0.03), a long duration of epilepsy with unsuccessful treatment (p = 0.022), and AED polytherapy (p = 0.023) were identified as significant predictors for a poor long-term seizure outcome, whereas complete remission of GTCS under AED significantly increased the chance for complete @PHENOTYPICFEATURE$ freedom (p = 0.012).	false
+a7e0fa702a5ac8e9e5d3ef2802ff3ea7996d017d	In two patients with adult-onset @PHENOTYPICFEATURE$ and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for @DISEASE$ (SCAR10).	false
+7307ceeed26207e9240fa58989e890c2b867c87d	Other complications such as Homer syndrome, intercostal neuralgia, @DISEASE$, and @PHENOTYPICFEATURE$ were not observed.	false
+0a875393e72ffae557d7cbe78404035c7adbda0f	Other causes of rootless teeth such as odontodysplasia, @DISEASE$, trauma, infection, radiation therapy, and @PHENOTYPICFEATURE$ were excluded from her history and clinical and radiographic findings.	false
+951816335d2cd6bec61f47503900b1d322b33dda	Root anomalies and @DISEASE$ in autosomal recessive hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis (HFTC).	false
+85d9ecb3bba3773f71e0947a8ea178e56b35177d	@DISEASE$ is a rare, frequently lethal condition characterized by @PHENOTYPICFEATURE$ with progressive joint contractures, cardiac, pulmonary, and skin anomalies.	false
+8b4bfdb0d84a32b83b827ea50109bc76376131bc	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with @PHENOTYPICFEATURE$, brachydactyly, and joint contractures.	false
+c8953e9501b212cded9a01f88209ead06bc1ec0c	@DISEASE$ (GD) is a rare disorder characterized by @PHENOTYPICFEATURE$, short hands and feet, limited joint mobility, skin thickening, characteristic facial features (e.g., a "happy" face), and cardiac valvular disorders that often result in an early death.	false
+e33be1e7ac563e053357bc998434666364588144	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with @PHENOTYPICFEATURE$, brachydactyly, joint contractures, and a good-natured facial appearance.	false
+aece0dec6f5cda4ea28edbf99b6d80b8f0b9ff22	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$, dysmorphic syndrome.	false
+74b789d1ae3bc5568acfde7969cfdb5e86255397	@DISEASE$ is characterized by short stature with @PHENOTYPICFEATURE$ and brachydactyly, a "happy" facial appearance, and joint contractures.	false
+bc4503274b0109948a10f6a447a373bd17f996ff	Consistent with strong tendon expression, Adamtsl2 conditional deletion in limb mesenchyme using Prx1-Cre led to tendon anomalies, albeit with normal collagen fibrils, and distal @PHENOTYPICFEATURE$, providing a mouse model for @DISEASE$.	false
+288b97881a426abf6057d1bf328f6a5011c4cbed	In this regard, we here report an original case of idiopathic granuloma of the tongue not secondary to Melkerson @DISEASE$ and being part of benign @PHENOTYPICFEATURE$ of the oral cavity.	false
+e589b10ec636254fa0efefe5bd5060fb0ac3ab27	@DISEASE$ (MANDP) is a rare autosomal recessive form of @PHENOTYPICFEATURE$ characterized by normal length at birth and transitory bowing of the legs.	false
+c0e1bf97bf5fb4b34f46a24fc5a637c66d8831ec	@DISEASE$ @PHENOTYPICFEATURE$-like growth anomalies induce an immune response and reduce fecundity.	false
+d3546a7586e94e6c46441d86bca56f4837be97b5	Li-Fraumeni syndrome (LFS) is a rare genetic disease with strong predispositions to multiple early-onset @PHENOTYPICFEATURE$, mostly sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (LFS @DISEASE$ cancers).	false
+401acabfe5fd6920c7946072858aa36116f3c503	Two syndromes, Porites ulcerative white spot (PUWS) and @DISEASE$ @PHENOTYPICFEATURE$, occurred at high prevalence.	false
+2306e4ccb609e9aed801f890da643ee161634187	As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of @DISEASE$, including severe psychomotor delay, agenesis or @PHENOTYPICFEATURE$ vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance.	false
+fb9328f022a9755cddc192139d67ab7972cd4c1f	The association of retinal dystrophy and @PHENOTYPICFEATURE$ defines @DISEASE$. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date.	false
+6a79dc1f275628f681a3af9ccbf8ee7f73100fd7	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as @DISEASE$; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+d66f78b1836c275c37c547a84e00eaa266c65191	Breast cancers diagnosed among African women reportedly include a disproportionate number of poor prognosis @PHENOTYPICFEATURE$, including hormone receptor negative, triple negative, and @DISEASE$ basal phenotype tumors.	false
+6c5989c678e2c83b857ff28c18f457aa99d3b80b	Breast cancers diagnosed among African women reportedly include a disproportionate number of poor prognosis tumors, including hormone receptor negative, triple negative, and @DISEASE$ basal phenotype @PHENOTYPICFEATURE$.	false
+15e8be2e72dd9d08e5f3465a28aaa23d52e230a9	@DISEASE$ @PHENOTYPICFEATURE$ are atypical skeletal forms found on coral reefs worldwide.	false
+aa2f397bb1eb12c4f0d71f0f1ba51441080e3318	The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are @DISEASE$-component @PHENOTYPICFEATURE$ of the Li-Fraumeni syndrome.	false
+3ea59042c20e92a2f6d15dcb2dd1e3bce3a2a0af	@DISEASE$ (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, @PHENOTYPICFEATURE$, severe psychomotor defects and growth retardation.	false
+b075e07d902509e7175cd2a0907e58b68cfc2fab	We report a rare case of @DISEASE$ with bilateral @PHENOTYPICFEATURE$ and obstructive sleep apnoea.	false
+c3522d168cd43d5922be76f35468f630d91ec665	We report a rare case of @DISEASE$ with bilateral bronchiectasis and obstructive @PHENOTYPICFEATURE$.	false
+aebf47990020a6c6fc6d7806e6b744335bfe92e6	Heterozygotes for @DISEASE$ (NKH), a disorder of glycine degradation, have a slightly @PHENOTYPICFEATURE$ of glycine.	false
+8d8cde86d50505d59daaa096a4f08c6b39b1fd5b	These patients differ significantly from the majority of reported cases of @DISEASE$ in that they did not manifest life-threatening neonatal illness, @PHENOTYPICFEATURE$, or neurological deficits.	false
+0c43d9c68a7e1fbfeebe8077ff4bea8c6146b559	A diagnosis of @DISEASE$ should be considered when a fetus presents with an @PHENOTYPICFEATURE$.	false
+b8c6e8b61cd293b017ca495df4e0b57231c9cc05	Such diseases include Friedreich @PHENOTYPICFEATURE$, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and @DISEASE$ due to glutaredoxin 5 gene defect.	false
+1e4a6b39dbc89a580092ab800485fd80a5fb7306	Analysis of this and the other 26 reported cases suggests that patients with @DISEASE$ develop @PHENOTYPICFEATURE$, not seen in ketotic hyperglycinemia.	false
+09bcc6a1910ba3ac910a632862e211ed816c73bf	We describe a girl with late-onset @DISEASE$ presenting at 5 years of age with hypotonia, chorea, @PHENOTYPICFEATURE$, and alterations in consciousness in the setting of febrile illness.	false
+602ed8a70eaf58d15a801d7bd6f3ac9ba159ae24	@DISEASE$ is a neurometabolic disorder characterized by intellectual disability, seizures, and @PHENOTYPICFEATURE$.	false
+472d0042fa1dc7d4ea0649fffc91992c6612507d	Most sources recommend a moderately increased dose guided by therapeutic drug monitoring.A 14 year old boy with @DISEASE$, a rare inborn error of metabolism, characterized by high levels of glycine, epilepsy, @PHENOTYPICFEATURE$, and cognitive impairment, was admitted to the emergency department with respiratory failure after a few days of fever and cough.	false
+4a9a062d481e5c46be46d9c0f437a3b0692be2a4	@DISEASE$ is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to @PHENOTYPICFEATURE$.	false
+9960eb72611190a7721d365f9f5812643106d5d4	@DISEASE$ is a rare disorder, and the diagnosis is clinical by unusual facial features and @PHENOTYPICFEATURE$.	false
+9416d79d61034ff8450eac7761365f38ea5f6e7d	@DISEASE$ (AMC) is a spectrum syndrome of multiple persistent @PHENOTYPICFEATURE$ often accompanied by associated anomalies, including cleft palate, genitourinary defects, gastroschisis, and cardiac defects.	false
+edc6fe4e7df99dbab413c76af28b8fdbee953222	A 2-year-old boy was diagnosed with @DISEASE$, severe @PHENOTYPICFEATURE$, torticollis, vocal cord paralysis, and diminished lower limb movement.	false
+4d652e1c89fd892858229dc1cc3d7f682c592a63	We report the use of continuous spinal anesthesia in conjunction with intravenous nitroglycerin for the ex utero intrapartum treatment procedure in a woman with @DISEASE$, a rare syndrome characterized by rigid joints and @PHENOTYPICFEATURE$.	false
+741516c520e7afc628dbd55ec3443cedc224f435	The most striking physical anomalies were upper @PHENOTYPICFEATURE$ resulting in @DISEASE$.	false
+b0f57ce7bb220aaf8b7eca5c9b5855237dc6cd16	Freeman-Sheldon syndrome (also known as whistling face syndrome, Windmill-Vane-Hand syndrome, cranio-carpo-tarsal dysplasia and @DISEASE$ type 2) is a rare congenital disorder defined by facial and @PHENOTYPICFEATURE$.	false
+01d0fc73eebbda3ac1cf2f940ecc475aecc91862	@DISEASE$ (also known as whistling face syndrome, Windmill-Vane-Hand syndrome, cranio-carpo-tarsal dysplasia and distal arthrogryposis type 2) is a rare congenital disorder defined by facial and @PHENOTYPICFEATURE$.	false
+20afd60a05edce03d031c6707fd8b1887d5738f5	@DISEASE$ (AMC) is a syndrome with multiple persistent @PHENOTYPICFEATURE$, often accompanied by associated anomalies.	false
+bded8e876b21bc4d021648b6ba2c383c8b72e46d	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as @DISEASE$ (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive @PHENOTYPICFEATURE$, craniofacial syndrome, and distal arthrogryposis.	false
+1c2512e66925c0415b472cfb584ed8346d050d47	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive @PHENOTYPICFEATURE$, craniofacial syndrome, and @DISEASE$.	false
+e7e496d0ee6ee9e7e276315bc96360fa19bd53ad	Lower @PHENOTYPICFEATURE$ and muscle weakness are common in children with @DISEASE$ (AMC).	false
+51ea3f738006803e6afd773c20fb9246196c4634	@DISEASE$ (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital @PHENOTYPICFEATURE$ and comprise at least 10 clinical subtypes.	false
+59c43d3db09dc3cd3457355bfe2f5470fe11b6d7	@DISEASE$ should be considered in older children who suddenly experience limb weakness and/or @PHENOTYPICFEATURE$ paresis and eye symptoms.	false
+70c7b9e3b8ee859f706733ce9351f3e0db913d3a	@DISEASE$ syndrome is a rare malformative syndrome associated, to varying degrees, with agenesis of sacral and coccygeal vertebrae, lower @PHENOTYPICFEATURE$ and gastrointestinal, genitourinary and cardiovascular abnormalities.	false
+e88e315731d8371bbe257f3bb2adf1d8da84d572	The obstruction has been postulated to occur in two stages during post-traumatic ARDS: an initial transient pulmonary vasoconstriction, attributable to platelet and leukocyte aggregation and the release of vasoactive substances; and, two to five days post injury, a more malignant "delayed microembolism" stage, attributable to the development of protein-@DISEASE$ @PHENOTYPICFEATURE$ and fibrin deposition in the lungs.	false
+b50ea0659f1773a6ab1fc167279ae76dbf0350e8	@DISEASE$ with panhypopituitarism, @PHENOTYPICFEATURE$ and sixth nerve palsy.	false
+fe80bf29ccd2e74fd232a0642c5de803a3efb594	We report a rare case of a patient with @DISEASE$ who developed multiple bone lesions and @PHENOTYPICFEATURE$.	false
+1a3edc7c2dad8f91c528297b29f9f383d4c0b1d7	@DISEASE$ presenting as multiple bone lesions and @PHENOTYPICFEATURE$.	false
+6001cceb377fa0f986a37e1fc80dd2967f1d3c0d	A patient with @DISEASE$ associated @PHENOTYPICFEATURE$ and a raised serum concentration of 1,25(OH)2D is described.	false
+a939e9dae496483392639db71305250cd02bafe6	Paraneoplastic @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and CRMP-5 autoantibody.	false
+89a1ab42436329c0003d190b028fa8a25da09981	Plasmocytic @DISEASE$ is the most common tumor of bone and bone marrow, typically diagnosed by symptoms such as monoclonal paraproteinemia, proteinuria, anemia and @PHENOTYPICFEATURE$.	false
+5ea6e7b0c363158dba005d113177738bd8d1ecbe	However, there is less epidemiologic evidence of its association with other @PHENOTYPICFEATURE$, notably @DISEASE$ (NHL).	false
+844ac653376f95810aee962f78a93a57f4f9e1a8	Recurrent, transformed @DISEASE$ presenting as chiasmal syndrome with @PHENOTYPICFEATURE$ and hypopituitarism.	false
+f909be1e2ae5f494aa5b13d7665b95f0c281a3a4	Recurrent, transformed @DISEASE$ presenting as chiasmal syndrome with hyperprolactinemia and @PHENOTYPICFEATURE$.	false
+27e660f0c30bcc430f83108f9e39ad2c914fc29a	Moreover, promising results have also been found with oxaliplatin in patients with @DISEASE$ and reversible, cumulative, @PHENOTYPICFEATURE$ is the principle dose-limiting factor of oxaliplatin therapy.	false
+911fa5ee29951cca4f35fa40c04cf521134bc5b0	The second group includes neoplastic diseases as acute leukemia, @DISEASE$, and Hodgkin's lymphoma with myelofibrosis, malignant histiocytosis and non-@PHENOTYPICFEATURE$, like the neuroblastoma and the embryonal rhabdomyosarcoma.	false
+47baf384b8a3b5e08719f42f82657f07c105989b	@DISEASE$ (ccRCC), the most common type of kidney malignancy, is an incurable disease characterized by multiple @PHENOTYPICFEATURE$, especially lipid accumulation and desaturation.	false
+3669b77102181282d25839be3d059acb7a2d42c6	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, @PHENOTYPICFEATURE$, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH).	false
+92a795e50fd5029b21ddb537de714d1b05319588	Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to @DISEASE$ (MH).	false
+bdc14f2fa08bd889ee1c3205eaa1469f91993053	@DISEASE$ risk is increased during strabismus and @PHENOTYPICFEATURE$ surgery.	false
+19bf05437ea1463f1de49d017fadf0cea7d23d5f	[@DISEASE$ during @PHENOTYPICFEATURE$ extraction in an elderly patient].	false
+8f61377f04259237fdb0c5fe8266fadf573e2925	Features of NAM include congenital weakness, cleft palate, @PHENOTYPICFEATURE$, short stature, and susceptibility to @DISEASE$ provoked by anesthesia.	false
+b8217baade97ac0f99733d5f620ca5c702d0eaea	The case of a 67-year-old patient who suffered an episode of @DISEASE$ during the extraction of a @PHENOTYPICFEATURE$ is described.	false
+36839d21d7ac8993ac28537d0b0defd0f6e7376a	@DISEASE$ is a potentially fatal complication of general anesthesia that may occur with greater frequency in @PHENOTYPICFEATURE$ and strabismus surgery.	false
+25182d6dfcb565613e8181795cdc6a2e447689e7	@DISEASE$ is a risk in all general anesthetic procedures, particularly squint and @PHENOTYPICFEATURE$ repair, and may even be a consideration with local anesthesia.	false
+e1af12a3f551a5bce63135de64ceb24db9eebf96	A syndrome similar to @DISEASE$ developed in a 545-kg Quarter Horse while anesthetized with halothane for @PHENOTYPICFEATURE$ removal.	false
+d005a0b7377562a26e269063399c61cb0f749d70	@DISEASE$ is a potentially fatal complication of general anesthesia that may occur with greater frequency in some patients with @PHENOTYPICFEATURE$ or strabismus.	false
+f72eac11105e499a35beb6fa6ea04acde38c4925	NAM features include congenital weakness and arthrogryposis, cleft palate, @PHENOTYPICFEATURE$, short stature, kyphoscoliosis, talipes deformities, and susceptibility to @DISEASE$ (MH) provoked by anesthesia.	false
+bd3401212478adf981ca6ad2e919cddedf11b0cb	NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, @PHENOTYPICFEATURE$ deformities, and susceptibility to @DISEASE$ (MH) provoked by anesthesia.	false
+c879f0b3dda72c508e29c1568e2406fb347729b2	@DISEASE$ (ULD) is the purest and least severe type of progressive myoclonus epilepsy (PME), and is not associated with progressive @PHENOTYPICFEATURE$.	false
+26b14b73a22b486b0c6f5467b994568bf40aa79a	Unverricht-Lundborg disease (@DISEASE$) is the purest and least severe type of progressive myoclonus epilepsy (PME), and is not associated with progressive @PHENOTYPICFEATURE$.	false
+f50a30763bb8f7c895d2d1973dfabd6c4550d1da	Eleven of 20 subjects with @DISEASE$ had mild to moderate @PHENOTYPICFEATURE$.	false
+8d0484a032f71476fb1c69b4bb4dcc7d1f3c3658	Eccrine angiomatous @PHENOTYPICFEATURE$ with features resembling @DISEASE$.	false
+754140b0c78a1501b02fc4687e81ffe25f6dd5de	A case of eccrine angiomatous @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+57df88d2c0ab37ee1276d9cf5ca99116eb11f74f	We report an interesting case of an eccrine angiomatous @PHENOTYPICFEATURE$ associated with a @DISEASE$.	false
+836ca54b19a1b109afdbfc2783d99231e21eddcf	Eccrine angiomatous @PHENOTYPICFEATURE$ (EAH) associated with @DISEASE$ (VH).	false
+d557835ba65ef841416efa889d97ea441da83548	Classic @DISEASE$ (CNC) is an autosomal recessive and infrequent inborn metabolic disease that should be suspected in all children who show @PHENOTYPICFEATURE$ and renal Fanconi syndrome (RFS).	false
+2f36b04bf3d8af593ecf883cb656b246a6b2f04e	We report the first case of an obstructive @PHENOTYPICFEATURE$ after intraventricular hemorrhage in a woman with @DISEASE$ and eclampsia.	false
+7a42a9e1d7787aba0e604afeeb288a8d4965634f	The main complications in the adverse outcome group included placental abruption (n = 13), @PHENOTYPICFEATURE$ and pulmonary edema (n = 10), hemolysis, elevated liver enzymes and low platelet syndrome (@DISEASE$, n = 5), and no eclampsia was reported.	false
+aa5b05b819d81c3e7dfc27ab21874c488365e909	@DISEASE$ is associated with poor perinatal outcome; the incidence of caesarean section is high and there is an increased risk for preterm birth and @PHENOTYPICFEATURE$.	false
+efe32ce32d286c4e56e0148d3042b60633a89b2c	We report the case of a 26-year-old woman with severe renal and @PHENOTYPICFEATURE$ as a primary manifestation of systemic lupus erythematosus after her premature terminated pregnancy for the symptoms of preeclampsia with @DISEASE$.	false
+5f50c934ce0940ae4953d17ceedf89f64ebe0406	Those @DISEASE$ patients without ascites at surgery developed @PHENOTYPICFEATURE$ or adult respiratory distress syndrome infrequently, and more than 24 hours postoperatively.	false
+73d3891c18eee77d3abb56b9d98cfcbbccb74c1e	The connection of @DISEASE$ with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, edema, hyperreflexia, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+b8204e86e446a7fdda1e8b0c374b904c9af4c6ad	Causes of maternal death were pulmonary edema, @PHENOTYPICFEATURE$, CVA, @DISEASE$.	false
+82a50e60b2f09677d111edeebe4c694d9d6f65b8	The incidence of large-volume ascites in patients with @DISEASE$ who underwent abdominal delivery was approximately 10% in classes 1, 2, and 3. Compared with HELLP syndrome patients without ascites, those with HELLP-associated ascites at surgery had a significant sixfold increase in the incidence of @PHENOTYPICFEATURE$ and a ninefold increase in the incidence of adult respiratory distress syndrome, both of which usually became clinically apparent within 24 hours postpartum.	false
+d4a27754b9b2092154a1b80edc2d51cfd03a9a49	The incidence of large-volume ascites in patients with HELLP syndrome who underwent abdominal delivery was approximately 10% in classes 1, 2, and 3. Compared with @DISEASE$ patients without ascites, those with HELLP-associated ascites at surgery had a significant sixfold increase in the incidence of @PHENOTYPICFEATURE$ and a ninefold increase in the incidence of adult respiratory distress syndrome, both of which usually became clinically apparent within 24 hours postpartum.	false
+80104ba8669a0bd51e4e4ec727066311e5f8db1f	These patients had severe coagulopathies due to hepatic failure, @DISEASE$, excess of anticoagulation treatment, or they had no external anatomic landmarks because of anasarca or @PHENOTYPICFEATURE$, were unable to maintain the horizontal position, or were external landmark catheterization failures.	false
+15baa254f5c4fe2af938d258a13f0ce1010a0dab	Pregnant women were included who had at least one of the following risk factors for preeclampsia: previous history of preeclampsia, previous history of @DISEASE$, chronic hypertension, diabetes mellitus, multiple pregnancy, @PHENOTYPICFEATURE$, or autoimmune disease.	false
+ed8d2ce118e9902d57f18b27e62599529ca00f21	Clinical, genetic, and radiological evaluations were undertaken in a large family from Gujarat in North India with hereditary spastic paraplegia, whose affected members presented with varying degrees of @DISEASE$, and @PHENOTYPICFEATURE$.	false
+18b6e6f7729dd81e46529a01cbb2b0f185490da6	The clinical abnormalities are bilateral optic atrophy, extrapyramidal signs, @DISEASE$, dysarthria and mild @PHENOTYPICFEATURE$.	false
+96e089985ef65390c7189c39977f04ce82a8e00a	Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, @PHENOTYPICFEATURE$, and mixed motor abnormalities including @DISEASE$, and dystonia.	false
+87f9a2d9069958aa401a236c14ac3f35864013f3	Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, @DISEASE$, dysarthria and @PHENOTYPICFEATURE$.	false
+a5554f669be5eabbe391951dc5c858d6a7dea522	@PHENOTYPICFEATURE$ is often observed before sensory and motor nerve dysfunction in @DISEASE$.	false
+b6d26ab7d658a565149fc3e0ac453d584d4b95c3	The impact of @DISEASE$ on adipogenic differentiation and mTOR signaling together confers resistance to diet-induced @PHENOTYPICFEATURE$.	false
+ce8e1a2bbd2f94fb8a5abb24eeee73c39cdddaef	The haemodynamic and catecholamine responses to supine exercise, and the effect on standing blood pressure (BP), were studied in three groups with peripheral @PHENOTYPICFEATURE$; insulin-dependent diabetes mellitus (IDDM), familial amyloid polyneuropathy (@DISEASE$) and pure autonomic failure (PAF).	false
+9a598242411affe14d4f1c43ed102fca37aeef05	Sixty-five people (34 @PHENOTYPICFEATURE$, 31 hearing) were assessed using measures of verbal and visual memory, attention, visual processing, @DISEASE$, and ToM.	false
+8aced1b3a30ce7a232aafa6b06ac1984520d586f	Thrombospondin 1 (THBS1), a circulating adipokine, increases with @PHENOTYPICFEATURE$ and induces @DISEASE$ proliferation.	false
+3fd258493bfcc85ea33420fbb602f9b7bf1a913c	Cardiac @PHENOTYPICFEATURE$ is a common complication of familial amyloidotic polyneuropathy (@DISEASE$), but cardiac arrhythmia and conduction disturbances are also common.	false
+868c79a2047aa25c7ddd8de26254ee567d2e9d92	While @DISEASE$ and ToM were equally effective as mediators for hearing subjects, FAP was a more potent mediator than ToM for @PHENOTYPICFEATURE$ subjects.	false
+3030a93a9a36c7399fb3e25c07452893a3c60487	While FAP and ToM were equally effective as mediators for hearing subjects, @DISEASE$ was a more potent mediator than ToM for @PHENOTYPICFEATURE$ subjects.	false
+9cfa4e7c4d95a0d79ccbe92b26f7d6e87aa060e2	Previous work has demonstrated that familial amyloid polyneuropathy (@DISEASE$) and light-chain amyloidosis with similar degrees of cardiac involvement cannot be distinguished by standard echocardiographic parameters, yet the severity of @PHENOTYPICFEATURE$ and cardiac mortality is much less in FAP.	false
+6f3e9bb8123d5f46d5abd6f2aa19f9bf2d8473f5	Previous work has demonstrated that familial amyloid polyneuropathy (FAP) and light-chain amyloidosis with similar degrees of cardiac involvement cannot be distinguished by standard echocardiographic parameters, yet the severity of @PHENOTYPICFEATURE$ and cardiac mortality is much less in @DISEASE$.	false
+ba8c1919e1b920fab4f66fc57676e23c4889004b	A proband is a 33-year-old man with @DISEASE$ type I who developed motor, sensory and autonomic impairments with neuropathy, @PHENOTYPICFEATURE$, and anorexia.	false
+ebe8f76b87801e23112a1b890e2f4bca2f553f08	BP overshoot may be a marker to assess the progression of cardiac @PHENOTYPICFEATURE$, especially as heart arrhythmia in many @DISEASE$ patients prevent HRV analysis.	false
+d2e703aef8197ac23bc8c90db750f332c13be5bf	GNs are frequently associated with neurofibromatosis-1 and @DISEASE$ and commonly present with constipation, @PHENOTYPICFEATURE$, weight loss, obstruction, and gastrointestinal bleeding.	false
+50123f8115d840ac2188cea95f96026b7039f7e7	@DISEASE$ (FSHD1) is a relatively common autosomal dominant adult @PHENOTYPICFEATURE$ with variable disease penetrance.	false
+cdafe124277515f992df8b729c720dee2d051320	[Congenital @DISEASE$ and @PHENOTYPICFEATURE$.	false
+91e3075a4536ed8082619255e2ae2217ecbd800c	Absence of PAX6 gene mutations in Gillespie syndrome (partial @DISEASE$, cerebellar ataxia, and @PHENOTYPICFEATURE$).	false
+6b01c60a0f585c3268b562f7cb7a01af10a1811d	Absence of PAX6 gene mutations in Gillespie syndrome (partial @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation).	false
+d583620e668525501f227a670e02769fe3f5566b	Gillespie syndrome is the phenotype partial @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+fbe94a6422f67bfd8c0e5ff0cee80430423c99f6	Gillespie syndrome is the phenotype partial @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+49fff66fa85f11f0c796630887e1c45e3f6afba7	One of the differential diagnoses that should be considered is Gillespie syndrome, in which @DISEASE$ is associated with cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+e9f799807ed6ee2839a724bad5728d6ed845abf4	One of the differential diagnoses that should be considered is Gillespie syndrome, in which @DISEASE$ is associated with @PHENOTYPICFEATURE$ and mental retardation.	false
+1561aa71de9d80e6469fbf265303fc51643f639e	Syndrome of partial @DISEASE$, cerebellar ataxia, and @PHENOTYPICFEATURE$--Gillespie syndrome.	false
+c67a229922b6fea2553cf01150be16183e7b1c01	Syndrome of partial @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation--Gillespie syndrome.	false
+27a6fb11619f4d33c584732a5df2d0249a7da06a	They had both congenital @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+29aef418037109657fdab280465190a6f036db2c	They had both congenital @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+d02d751903af0d2ac236ce720f930388c6515962	Partial @DISEASE$, cerebellar ataxia, and @PHENOTYPICFEATURE$ (Gillespie syndrome) in two brothers.	false
+f2a39b8481dabfc4dc59b5ad82a21fce6c8389b4	Partial @DISEASE$, @PHENOTYPICFEATURE$, and mental deficiency (Gillespie syndrome) in two brothers.	false
+e028c10dfe676d183de8b12f28b00465f1b644d4	The syndrome of congenital @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+ec71de8a9401448e1836fbe022b2c8ef5a3b1b88	The syndrome of congenital cerebellar ataxia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+29ecd2a110df840fdb05a94dc03f036be965026a	Gillespie syndrome, partial @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation in mother and daughter.	false
+b62cf244923af67973929ec3b87b08124a7502b9	Gillespie syndrome, partial @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$ in mother and daughter.	false
+be67762e58b58dc99025f99c9dee379a659c1190	This syndrome is characterised by partial @DISEASE$, cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+c29592563091c166213ba9e385130249024a2746	This syndrome is characterised by partial @DISEASE$, @PHENOTYPICFEATURE$ and mental retardation.	false
+1baa10a95c505ede64ff8b1538298a7c125eabaa	Brain @DISEASE$ are mainly associated to mental retardation and @PHENOTYPICFEATURE$.	false
+f091e6916520df77123292855389ae7a4b39ad6e	@PHENOTYPICFEATURE$ and insulin resistance, important characteristics of the cardiovascular dysmetabolic syndrome (@DISEASE$), were found to be associated with coronary artery disease in FH subjects, as in the general population.	false
+17ce27a6b2a44f60f8b9fb563dd5b53f97ee3940	Reduced attention during @DISEASE$ may restrict language-learning opportunities for children with @PHENOTYPICFEATURE$.	false
+ab26c1174db72a5fcb9b8686ef95a1b86cf1f923	Patients with @DISEASE$ present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal @PHENOTYPICFEATURE$, and autism spectrum disorder.	false
+d2dc9a617d01f5bdc304468d813d5bbb4633e50d	Unlike our study population, we expect more frequent @DISEASE$ among children with severe developmental delay, speech impairment, seizures, and @PHENOTYPICFEATURE$ in addition to impairments in social communication, restricted interests, and repetitive behaviors.	false
+a8297f17ed4557c772ce6c4346e0424e31977959	@DISEASE$ are caused by defects of endogenous creatine synthesis or transport and are mainly characterized by intellectual disability, @PHENOTYPICFEATURE$, poorly developed muscle mass, and in some cases also muscle weakness.	false
+b424564bae7dd25d7a1145f114381d6bfcd569a7	Fiberoptic intubation complicated by @PHENOTYPICFEATURE$ in a 12-year-old child with @DISEASE$.	false
+0169e8bacf4f699bc4a08157757d19352f11d1a8	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or @DISEASE$ respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+c6f7d2d6059432288e42b59485bd619a43af7a98	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or @DISEASE$ respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+49d29228f598f095f11b066861347729dd7805f3	Biomarker May Predict Cancer Versus Autism Risk in @DISEASE$: Decreased levels of fumarate were more strongly associated with @PHENOTYPICFEATURE$ than cancer in persons with PTEN mutations.	false
+9771ee046b50db8114cb7eb1feccf81bc526ffe4	When germline mutations are present as in patients with @DISEASE$ (PHTS), benign and malignant neoplasias occur as well as cerebral overgrowth and @PHENOTYPICFEATURE$.	false
+704e42831b3293ddbe7a0b6acdfc76928741435f	The triad of tachycardia, digitalis toxicity and @DISEASE$-fast @PHENOTYPICFEATURE$ in congestive heart failure complicated by pulmonary embolism.	false
+c276d8ba102a62da990a889f141f9eab2d500173	hydroquinone, glucocorticoids and mercury) can cause adverse effects including dermatologic disorders such as dyschromia, exogenous ochronosis, acne and @PHENOTYPICFEATURE$, prominent striae, tinea corporis, pyoderma, erysipelas, scabies, and contact dermatitis and systemic complications such as hypertension, hypercorticism or surrenal deficiency, and @DISEASE$ nephropathy.	false
+46bf5d7f157df34e8b29963f8562a1a9b2ac2137	Gordon syndrome (GS), or @DISEASE$, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital @PHENOTYPICFEATURE$ and feet.	false
+53295803d1f7f2d05878ba5b416a256dbb3971a1	@DISEASE$ (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital @PHENOTYPICFEATURE$ and feet.	false
+b7e55917f250788f2db466c2beb336529c8dc521	@DISEASE$ comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning @PHENOTYPICFEATURE$, and cardiac defects.	false
+2fcaee0e0e3478f4ee76655307607fc156b35d32	We report the case of a 7-year-old girl with @DISEASE$ who showed RVH and multiple @PHENOTYPICFEATURE$ episodes.	false
+f6686f7273d7d0523f989da1bdab2bff7a98891c	Exposure to ACR causes neuropathy and associated neurological defects including @PHENOTYPICFEATURE$ and skeletal muscle weakness, due to impaired neurotransmitter release and @DISEASE$ neurodegeneration.	false
+450d6a6f78cb60c94e864fd25ffc2a14e3116c2b	Unilateral renal injury, whether caused by @PHENOTYPICFEATURE$ or ischemia, is followed by an increase in RVR, a decrease in RBF, and @DISEASE$ tubular atrophy.	false
+18636511727d3491b6b5f23ed9006657435c05b9	@PHENOTYPICFEATURE$ can cause shoulder dislocation, recurrent instability and @DISEASE$ arthritis.	false
+fae6e131928c8d8efa2e6413dd7c09c209e6b6be	Finally, we proposed that the dramatic losses of neurofascin 155 and PLP interactions are responsible for the progressive tremors and @DISEASE$ @PHENOTYPICFEATURE$.	false
+bae20548abe52b7ac4b0eda9aba4c3fcf9df68b3	The neural phenotype of AT includes progressive cerebellar neurodegeneration, which results in @PHENOTYPICFEATURE$ and @DISEASE$ motor dysfunction.	false
+e69719fc4e5a963065dd965268ac1339fd3a2924	The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and @DISEASE$ @PHENOTYPICFEATURE$.	false
+53ea4e56401dd54154b901bc1774a07028141f8b	Clinically the syndrome may present with progressive ataxia, spontaneous and reflex, coarse myoclonic jerks and @DISEASE$ @PHENOTYPICFEATURE$ as well as epilepsy and muscle wasting.	false
+f04dc2baf05f2d5a3fbf34efd45f8ce6e3ee18e3	head-movement and @DISEASE$ @PHENOTYPICFEATURE$ was observed.	false
+dc33982df9084ba44d3619186e0b165e47ebe0b5	Severe developmental delay or @DISEASE$ @PHENOTYPICFEATURE$ can be the consequence of inadequate high T4-levels during fetal and neonatal life.	false
+bcecb09e0438750144025b0efd736bd54c1bef18	Their presenting clinical features, which suggested cerebral malaria (decreased level of consciousness ranging in severity from drowsiness and severe headache to confusion, delirium and @DISEASE$ deep @PHENOTYPICFEATURE$) may equally characterise hypercyanotic episodes among children with uncorrected cyanotic cardiac defects.	false
+a8255abf6561859d2f5a8a3bef04fb0073cfe534	Several other PID such as common variable immunodeficiency (CVID), Good syndrome and @DISEASE$ are associated with a wide variety of @PHENOTYPICFEATURE$ manifestations, mainly autoimmune cytopenias.	false
+1767bd35a82c62781c444d064076979a7c254238	It occurs in a variety of epileptic conditions (Primary generalized epilepsy, hypsarrhythmia, Lennox-Gastaut syndrome, also known as "petit mal variant"), in inborn errors of metabolism (@DISEASE$, forms of ceroid lipofuscinosis), in neurobiochemically still poorly understood forms of degenerative processes such as Essential hereditary myoclonus epilepsy (Lafora-Unverricht-Lundborg), in benign heredo-degenerative disorders (Hartung's syndrome), in CNS infections (SSPE, Jakob-Creutzfeldt disease), in metabolic encephalopathies (@PHENOTYPICFEATURE$, hypoglycemia), in CNS poisoning, in acute cerebral anoxia and in post-anoxic states.	false
+1ecb6895e2cc497a7d0ecff4b9f6f42c8b6ea74e	Although the pathogenesis of the membranous cytoplasmic bodies in this @PHENOTYPICFEATURE$ is unclear, they ostensibly arise within endoplasmic cisterns, similar to the proposed origin of membranous cytoplasmic bodies in @DISEASE$.	false
+e15eada69ef44469c1704718ef19847fb33cc2b1	The method is demonstrated here for genotyping single-nucleotide alleles of the human HEXA gene responsible for @DISEASE$ and for genotyping SNP alleles near the human p53 @PHENOTYPICFEATURE$ suppressor gene.	false
+53d3216dd7a7741931827eca7b69a66a29e1d3ea	@DISEASE$ is a rare cause of SNHL compounded by the potential for @PHENOTYPICFEATURE$.	false
+c3ba78b1e50b4eb4ece1ebf3baaa1da27d75063c	@DISEASE$ (KS) is a rare autosomal recessive disease which is mainly characterised by abnormal cartilage calcification, peripheral pulmonary artery stenosis, sensorineural and @PHENOTYPICFEATURE$, brachytelephalangism, and midface hypoplasia.	false
+030b3558541d3c11456adbadec1db43199d71f95	Sometimes isolated, it may be an ocular manifestation of Alport syndrome, a hereditary nephritis accompanied by @PHENOTYPICFEATURE$ and other ocular signs such as flecked retinopathy or @DISEASE$.	false
+25a4ab501c120fc45c92bf79e0c10d0a7140990b	Brief clinical report: @PHENOTYPICFEATURE$ with short, angulated femora (@DISEASE$).	false
+7ced3096613b5c11200fa7a4de358521762e4c6f	@DISEASE$ is a distinct, rare, @PHENOTYPICFEATURE$ with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities.	false
+62061704e3d86b1fdf78b84f2079bdabe31ae710	In the second family, with a male affected with the 'typical findings' of lethal @DISEASE$, diagnosis of a @PHENOTYPICFEATURE$ was suspected at 29-30 weeks' gestation following US detection of short, bent femurs.	false
+a9a8a31e5235490796991020d45ed48371bc219c	@DISEASE$: a rare form of semilethal @PHENOTYPICFEATURE$.	false
+6edf775b2dc4798dc3f9b3f2930ea50064e9e2fa	@DISEASE$ is a rare form of generalized @PHENOTYPICFEATURE$ with about 15 cases described so far in the literature.	false
+dff672a154a8a29827873e6c6648ebd27b874787	@DISEASE$ with @PHENOTYPICFEATURE$, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family.	false
+d2ffaab37515cee73ab3a3746476e81b86e98224	Overall, the zebrafish expression data are consistent with the observations of lip pits in @DISEASE$ patients, as well as more recent reports of alae nasi, otitis media and @PHENOTYPICFEATURE$ documented in some patients.	false
+cbac48470a8483147d122c1adb4570336e54ab2e	One also developed supravalvar @PHENOTYPICFEATURE$ after birth and was positive for 7q11.23 deletion (@DISEASE$).	false
+0763f2efe2ed5663d34a976313f9d7400782f6d0	@PHENOTYPICFEATURE$ is a consistent finding in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4f23ddc75964cfa15738ce98d140aa6ef5061084	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$.	false
+83032ded321550df25ef8dcca73c0cdde9ac3baa	Double chamber right ventricle in @DISEASE$: a rare @PHENOTYPICFEATURE$ reported.	false
+3c92a67aeae17755e91978d41275d3ea4e108072	All 4 patients had the typical @DISEASE$ facial appearance, @PHENOTYPICFEATURE$, and developmental delay.	false
+2f1820115a416c27731cb5bd8ee0b1d5a850688c	We report two children with typical @DISEASE$ facial appearance, @PHENOTYPICFEATURE$ and developmental delay.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+41c5b14c710b7a9950d7a5058e7888e70b7772a9	@PHENOTYPICFEATURE$ and hypertension in patients with @DISEASE$ are common.	false
+26d995730ecc9247a5a30d5c6a4085d1c5263fe8	Other causes include @DISEASE$, vitamin B12 deficiency, @PHENOTYPICFEATURE$, old age, and smoking.	false
+633fa16442ca9775576357f94ea457d372612d55	We have observed that intestinal tumors are induced in mice fed low-folate diets, and that @PHENOTYPICFEATURE$ incidence is increased when these mice also have @DISEASE$.	false
+1466e5346d6abaa6a05b9d684ea4d041a0526ce2	@DISEASE$ has a wide spectrum of more than 200 physical manifestations including palate and @PHENOTYPICFEATURE$.	false
+98d662364edd955c16695629621d3bd8a357bd73	@PHENOTYPICFEATURE$ are relatively common (14% in this series) and important to recognize with the @DISEASE$, especially if cardiac surgery is planed.	false
+80f8db808b1f515448f6e35d58a49c5891b6e0f1	@DISEASE$ (VCFS, or Shprintzen syndrome) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: cleft palate, @PHENOTYPICFEATURE$, typical facies, and learning disabilities.	false
+ffd1d4e0feadbd969b798fbd03bc4ed314c8d807	Velocardiofacial syndrome (VCFS, or @DISEASE$) is the most common syndrome associated with palatal anomalies and is characterized by the following major features: cleft palate, @PHENOTYPICFEATURE$, typical facies, and learning disabilities.	false
+e77a4780da9da7f9ee2cef26cf24c0090a4e244d	The most typical @PHENOTYPICFEATURE$ is conotruncal defects (CTDs) in patients with @DISEASE$ (22q11DS).	false
+e8488fab19eb6216954e403f385131bf483618c6	The @DISEASE$ is an autosomal dominant disorder characterized by cleft palate, @PHENOTYPICFEATURE$, characteristic facies, and learning disabilities.	false
+bf8ffe9407b59259437905d691d655753d2e9162	Approximately 70% of individuals with chromosome @DISEASE$ (22q11DS) have @PHENOTYPICFEATURE$.	false
+648a2898ae16cff317f6dbb97f0854d6b4aa4f87	@PHENOTYPICFEATURE$ in patients with DiGeorge/@DISEASE$ and del22q11.	false
+cb47e6fe326a208ed22048c9631f54bb3eddde27	Conotruncal @PHENOTYPICFEATURE$ frequently occur in patients with DiGeorge or @DISEASE$.	false
+fa46eabd2b68ec7863fd25b51e46a613b79c9cfa	has been identified in most patients with the DiGeorge, @DISEASE$, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal @PHENOTYPICFEATURE$.	false
+5c17ca768be3b694071aa8103fc6ced99dcdaab0	It is well known that typical cases of @DISEASE$ have a @PHENOTYPICFEATURE$, thymic hypoplasia and a cleft palate.	false
+d6794500f81f55929c6ca94a4b9faede47f7c2e0	We aimed to determine the relation of a disintegrin and metalloproteinase with thrombospondin motifs-4 (ADAMTS4), and a disintegrin and metalloproteinase with thrombospondin motifs-9 (ADAMTS9) with cardiovascular disease (CVD) risk, in ovarian dysfunction patients with premature ovarian insufficiency (@DISEASE$), and idiopathic @PHENOTYPICFEATURE$ (IHH).	false
+2fa4531090963bdd689c95f321d6db9e527a2d77	The @DISEASE$ is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and @PHENOTYPICFEATURE$, with very few cases published.	false
+ff1d4064e2a4fda1d72d48e22660a39edf1d22ab	@DISEASE$ (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/@PHENOTYPICFEATURE$.	false
+9ee51e9dfde249331ba48249fbc2731a7669671e	Triple A syndrome (or @DISEASE$) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/@PHENOTYPICFEATURE$.	false
+f3c6e67794022dfe7be794a0b9c110fb0586eb74	These findings provide molecular evidence that associate the previously unexplained @PHENOTYPICFEATURE$ and early malignancy in MEN 2B compared with MEN @DISEASE$.	false
+83cd48905e0f0b499951d70fb84616629d581a43	Our case report, characteristic of @DISEASE$, is unusual in view of the presence of plantar keratoderma and absence of any @PHENOTYPICFEATURE$.	false
+e4e05ce7daf3b902d70560c1c2cee6545036971b	ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/@PHENOTYPICFEATURE$ syndrome, also known as the Helsmoortel-Van der @DISEASE$.	false
+613ecae9b2881f72f42f09cd091eb4ea3c28a37e	Triple A (four A; @DISEASE$) syndrome is a an autosomal recessive disorder characterized by alacrimia, achalasia, adrenocortical insufficiency, and various @PHENOTYPICFEATURE$.	false
+5004e51536f54eeb164251e1285ef1caefaa53f6	@DISEASE$ (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/@PHENOTYPICFEATURE$.	false
+143a999302e765defa4ea8aa197a2e642d8ca486	Allgrove syndrome (or @DISEASE$) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/@PHENOTYPICFEATURE$.	false
+5191623bc4f637a6a9354c5730ba1b0df7067b5f	Triple A syndrome, formerly known as @DISEASE$, is an autosomal recessive disorder characterized clinically by adrenal insufficiency, alacrima, achalasia, and @PHENOTYPICFEATURE$.	false
+5aeb321ed8c199b9f8b5e3ee673fb9a5916628a6	Allgrove syndrome (or @DISEASE$) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority of cases) and autonomic/@PHENOTYPICFEATURE$.	false
+9088b05a8eb4ae1dc875356066fa3b43effeae07	@DISEASE$ (or triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority of cases) and autonomic/@PHENOTYPICFEATURE$.	false
+6a1793457403a899530a42e23b20c916f28f587f	Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+8aa8e4fc9ddc273ce830a992f7fba0a03875ac3e	A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and @PHENOTYPICFEATURE$ named Helsmoortel-Van der @DISEASE$ (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause.	false
+05a60e0c98f275b68d30eb0f56ee8a10a98906f2	@PHENOTYPICFEATURE$ are based on paroxysmal depolarization shifts (@DISEASE$) which are synchronized in many neurons.	false
+67c9dc8921fde02c9f077b6dab3760da349b3fbf	Mechanisms underlying @DISEASE$ and @PHENOTYPICFEATURE$ are still not understood.	false
+3ecb3df88122f9663d42c90fdf84ef44b49c322e	Pyridoxine-dependent @PHENOTYPICFEATURE$ (@DISEASE$) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants.	false
+6638a95b0e297c7a2cc9d38f755f705ac46af82c	Pyridoxine-dependent seizures (@DISEASE$) is a rare autosomal recessive disorder causing intractable @PHENOTYPICFEATURE$ in neonates and infants.	false
+7dc7f327cab1b6090ed82d0c2218f071d940d940	Incidental reports suggest that antenatal treatment of pyridoxine dependent @PHENOTYPICFEATURE$ (@DISEASE$) may improve neurodevelopmental outcome of affected patients.	false
+3fc98e84638b791d3143df360528f00dc2edc03d	Pyridoxine-dependent seizures (@DISEASE$) is a rare disorder characterized by @PHENOTYPICFEATURE$ resistant to anticonvulsants but controlled by daily pharmacologic doses of pyridoxine.	false
+0ab834c297ad6ccb27568f9bfefc4d22e6187a80	Pyridoxine-dependent @PHENOTYPICFEATURE$ (@DISEASE$) is a rare disorder characterized by seizures resistant to anticonvulsants but controlled by daily pharmacologic doses of pyridoxine.	false
+2a2e9bb0bed80f56de1bbda8bdbbe63f58977873	Eight children with pyridoxine-dependent @PHENOTYPICFEATURE$ (@DISEASE$) were seen over a period of 10 years.	false
+d954a2a264c160b3747ee97aa90cd751d6d76b1f	Pyridoxine-dependent @PHENOTYPICFEATURE$ (@DISEASE$) is a rare, autosomal recessively inherited disorder.	false
+7f49b6393cff0167acc7828e1fb96ce89dbe5776	Addition of FFA reversibly eliminated recurrent bursting, and transformed @PHENOTYPICFEATURE$-like events into isolated @DISEASE$ responses.	false
+c5944fa8b63433bb2330410cb7b15fb39b909285	A paroxysmal depolarization shift (@DISEASE$) has been suggested to be a hallmark for epileptic activity in partial-onset @PHENOTYPICFEATURE$.	false
+c380c3e6466b84de04218b4b3c5d185a0c8fc59d	Being an extremely rare condition makes the diagnosis of pyridoxine-dependent @PHENOTYPICFEATURE$ (@DISEASE$) difficult.	false
+fae01776d920d6a8520b904a6bcc54f52861ce1b	Hyperammonemic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+e6b84f1b7f58cd406ca07062f0a3836343533211	@DISEASE$ (SCA1) is a hereditary, progressive and fatal @PHENOTYPICFEATURE$ that primarily affects the cerebellum.	false
+599eed1728240ee677771cb6d04348186daa0648	We measured cerebellar neurochemical alterations in a knock-in mouse model of @DISEASE$, a hereditary @PHENOTYPICFEATURE$, using ultra-high field magnetic resonance spectroscopy (MRS).	false
+b2c195ca0955291b74aebb081f316b89b1f66492	A retrospective study cohort was identified of 2,304 patients age 65 years or older, hospitalized with a primary diagnosis of @DISEASE$, acute pulmonary disease (chronic obstructive pulmonary disease, pneumonia/influenza, @PHENOTYPICFEATURE$, or pleural effusion) or sepsis, and a complication of new-onset AF during admission from 1999?to?2015.	false
+5adc19cb9555d4cc11537c9e0fe29c7a4b7027da	We report a 3 1/2-month-old infant with features of @DISEASE$, plus thoracic @PHENOTYPICFEATURE$ radiographically similar to those seen in spondylothoracic dysplasia, a condition in which block thoracic vertebrae with widely open neural arches and a fan-shaped thoracic cage are found.	false
+5762374b4bda0c5ed226fe60b37367ca513a54d3	This study evaluated whether the risk of @DISEASE$ is associated with sleep disorders other than @PHENOTYPICFEATURE$ in Taiwan.	false
+f7ae5b5fd5a87f3d62cc2f5cde9063fd42ab1550	Before the intervention, complication rates due to arrhythmias were increasing, acute coronary syndrome (@DISEASE$) and all-cause mortality decreasing, but were constant for cardiac arrest and heart failure and @PHENOTYPICFEATURE$.	false
+65878b07014db95dbb383d8f3b8d886be19ec68e	A chest X-ray revealed bilateral @PHENOTYPICFEATURE$, suggesting acute chest syndrome (@DISEASE$) complicated with SCD.	false
+11b3a54444484b003a04fc46beeb0dbbb16dc493	In addition, patients who present with the symptom of a?suspected cardiac syncope need the differential diagnosis of an underlying arrhythmia, which may be due to an @DISEASE$ or reduced left ventricular (LV) function and other causes like @PHENOTYPICFEATURE$ or structural heart disease (e.?g.	false
+964a1e71db06c2e93a64997d9cc7784912b7d5c6	We report the case of a young man with rapid onset of @DISEASE$ who presented with simultaneous primary hypothyroidism and adrenal insufficiency associated with acute renal failure, hyponatremia, and @PHENOTYPICFEATURE$.	false
+d5a3fd00b998c74d233149bfcf01bb6162ae45b2	A patient with @DISEASE$ and several high-risk features, including thrombocytopenia, profound anemia, bilateral @PHENOTYPICFEATURE$, staphylococcal sepsis, and pulmonary embolism is presented.	false
+b16d737b29f4ab22837250f8c392ce861bf6d26a	We describe various cardiovascular diseases other than @DISEASE$ (heart failure, @PHENOTYPICFEATURE$, etc.) and noncardiovascular diseases (renal failure, etc.) that may cause elevated troponin levels and give possible explanations and prognostic relevance for this rise.	false
+7685e3ad5627dbb01b249d51d2ef9cecdb991a65	Thrombotic left main coronary artery (LMCA) occlusions usually manifest as acute coronary syndrome (@DISEASE$) with cardiogenic shock, acute @PHENOTYPICFEATURE$, cardiac arrest, fatal arrhythmias or sudden cardiac death.	false
+0f086d2c28c949fee8f9717fc5a8e00062edd370	MicroRNA-31 modulates @PHENOTYPICFEATURE$ sensitivity to radiation in @DISEASE$.	false
+019cbafaca41362417eb64b822d8a82fad263f5c	A pathological study of @PHENOTYPICFEATURE$ regression in @DISEASE$ treated with preoperative chemoradiotherapy.	false
+94d9a516a0a8ae38f6faecc782384cb0644aa13a	Serum miR-331-3p predicts @PHENOTYPICFEATURE$ recurrence in @DISEASE$.	false
+424bba0bfa7ed220958b2db7f39b92e09fed1b40	Oesophageal cancer: Defining @PHENOTYPICFEATURE$ subtypes in @DISEASE$.	false
+334f8c01fffbe1ac890fc3ea2e02982ca9d0d3e9	The primary @PHENOTYPICFEATURE$ in all 3 cases was @DISEASE$.	false
+25fade43736348740fc3b5075ec2cce60bb9b886	Metastatic @PHENOTYPICFEATURE$ in upper maxillary bone of @DISEASE$.	false
+f1f3e68abfb10294591e3973a1d07e0fbcd301a6	Clinical @PHENOTYPICFEATURE$ staging of @DISEASE$ and esophagogastric junction.	false
+be058d7036712342acc4181da7391efe91655ac6	Human papillomavirus not detected in @DISEASE$ @PHENOTYPICFEATURE$ specimens.	false
+f463bf5ef8c1801f31f02e7e8b22aa7f54d595ce	Reproducibility of @PHENOTYPICFEATURE$ stroma ratio scoring on @DISEASE$ biopsies was good.	false
+c47f1b4b047d17c087223375fdf939e8b2ed0dd8	Reproducibility and validation of @PHENOTYPICFEATURE$ stroma ratio scoring on @DISEASE$ biopsies.	false
+ff72f55e9065b00976fe31618ee5a51e2b1bfa7d	With the exception of erythema nodosum, the cause of panniculitis is identified upon histologic examination of a deep skin biopsy which ensures the differentiation of infectious nodules, @PHENOTYPICFEATURE$ nodules, and apparently primary forms of nodular panniculitis fitting the description of Weber-@DISEASE$, Rothmann-Maka? syndrome, histiocytic cytophagic panniculitis or lupus panniculitis.	false
+716d1d3dae50fc2810e56abb251c1820a1b427fc	Further research is required in order to draw an accurate conclusion regarding the association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9e9395315af8e46ae2512fa00d9c25883053c13a	@DISEASE$, characterized by craniofacial and @PHENOTYPICFEATURE$ (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3.	false
+631b0ec5755f52cab340ce44fd334ad6b97daccc	In man, GCPS, @DISEASE$, associated with @PHENOTYPICFEATURE$ and craniofacial dysmorphism has been assigned to 7p13.	false
+dd6efbce2bb656a4100306cb8b1058e2b85d41e5	Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for @PHENOTYPICFEATURE$ in L?ri-Weill dyschondrosteosis, @DISEASE$ and Turner syndrome.	false
+6106a7d1a46a7e63c5070f00fbc911f1693c0b7c	Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic @PHENOTYPICFEATURE$ and Madelung deformity in L?ri-Weill dyschondrosteosis and @DISEASE$.	false
+06fadebba206d0780b3738d667e5579c0cf12056	@DISEASE$ (BSCR) is a rare posterior uveitis characterized by distinctive, multiple, @PHENOTYPICFEATURE$ choroidal and retinal lesions.	false
+a5b91540a63dd9b2193062689f08fbf4be1b711e	@DISEASE$ (BSCR) is a rare form of posterior uveitis in which @PHENOTYPICFEATURE$ choroidal lesions are scattered throughout the posterior pole.	false
+3fd4369f7c04f8d1007afcecedc8e71980c94f37	@DISEASE$ is a well-known, yet poorly understood, form of posterior uveitis, characterized by multiple, distinctive, @PHENOTYPICFEATURE$ choroidal lesions, and strongly associated with human leukocyte antigen (HLA)-A29.	false
+719f14df8cc29273f0de8037e70fcabc8dc36fd7	@DISEASE$ (BSRC) is a rare posterior uveitis characterized by distinctive, multiple, @PHENOTYPICFEATURE$ choroidal and retinal lesions.	false
+c5d1ae925469115930f667d69ecdd99125930346	demonstrated a clinical response to non-ablative and/or ablative fractional laser treatments, including individuals with ophiasis, autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$, secondary cicatricial alopecia (scleroderma and pressure-induced alopecia), frontal fibrosing alopecia, and perifolliculitis abscedens et suffodiens.	false
+f480e346e9c8c92844d1137568a603a80dba4173	Founder mutations in the lipase h gene in families with autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$.	false
+bcb84c96df6a4aac79b27a1e7defde6ecc626f4c	A retrospective review of 17 patients with uncommon hair disorders - including ophiasis, autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$, various secondary cicatricial alopecias, pubic hypotrichosis, frontal fibrosing alopecia, and perifolliculitis abscedens et suffodiens - was conducted.	false
+dde3f76b403002381e0a9c6c4400b5e58d684f3c	Novel mutation in LIPH in a Lebanese patient with autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$.	false
+5feae6bcbc66a33fc9a0253d3c403219c0727f9b	Mutations in the LIPH gene in three Japanese families with autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$.	false
+5f877bfc0644f28aa64c9aaa5dc48e051d391bca	A distinctive autosomal recessive syndrome of severe @PHENOTYPICFEATURE$ with short long bones, brachydactyly, and @DISEASE$ in two consanguineous Arab families.	false
+cf4dfb9b63742640b7022ce36dd1d8f765f53cc7	A case of autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$ with alternation in severity: deterioration and improvement with age.	false
+22deed0f21941e86df1ff1947ebce472619ee8ea	Biallelic mutations in the LPAR6 gene causing autosomal recessive @PHENOTYPICFEATURE$/@DISEASE$ phenotype in five Pakistani families.	false
+79575aa32bb47638fcfe3bbbd46077c8c238c662	@DISEASE$ with keratosis follicular and @PHENOTYPICFEATURE$: a new phenotype due to GJA1 mutation.	false
+cc64014588ee7d5ec10ba95f1ff4509cb800dd04	@DISEASE$ and @PHENOTYPICFEATURE$: a novel hidrotic ectodermal dysplasia.	false
+bfe4f3eaa5d4246fd46e50d29c63ac8024714fab	We have identified a novel Sp7/Osx variant in another sibship that presented with @DISEASE$, low-trauma fractures and @PHENOTYPICFEATURE$.	false
+8e5670312df4737240129fb8cb984371cd7f52b0	Consequently, @PHENOTYPICFEATURE$ and @DISEASE$ are important long-term effects in adult survivors.	false
+ca811aa89d8af822a93af48274258052f9870c30	This syndrome combines severe premature @DISEASE$ with a bilateral eye disorder, leading to early onset @PHENOTYPICFEATURE$.	false
+a3077101437df0e0813d26a92d7d99f9efc40dc1	A diet rich in phytoestrogens is associated with a variety of health benefits including decreased risks for heart disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+30365337ca85eee11551cd9ce8592754e65b754b	In addition, mid-face hypoplasia, @PHENOTYPICFEATURE$, skeletal anomalies and @DISEASE$ are common.	false
+d68429ff05344e2eee28100b239176eb248a2bf9	To obtain a better outcome, multiple factors such as comorbid medical diseases, @PHENOTYPICFEATURE$, and @DISEASE$ should be carefully considered.	false
+48b46ab7096c7f0909c8d6c1bcf2841287617dc1	Understanding the molecular basis for these androgen effects could improve therapy/prevention of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+517aa6aa38b47199ba75022d2684ccad8b5988ad	We studied the prevalence of risk factors, secondary causes, and @PHENOTYPICFEATURE$ in men with and without previously known causes for @DISEASE$.	false
+2c85c966156b63d838fd5303de30cbb1f64aeb3e	Symptoms such as, anemia, @PHENOTYPICFEATURE$, dental enamel defect or @DISEASE$ can be the only manifestations of the atypical disease.	false
+9d272bf4a40713350a16cfca55fcd5897876a221	Individuals with NF1 have a variety of malignant and non-malignant manifestations, including skeletal manifestations, such as @DISEASE$, scoliosis and @PHENOTYPICFEATURE$.	false
+c44500b6c3edbc886d69af8a6e679dd9f3ec9d26	At inclusion, 64 patients were evaluated for phenotypic traits, sputum and blood @PHENOTYPICFEATURE$, exhaled NO, serum cytokines and chemokines, total serum IgE, lung function (LF), and airway @DISEASE$-responsiveness (AHR).	false
+97d802835770ad39445437a280fe10f59e997d10	@DISEASE$-CVAD is an effective regimen for patients with AIDS-associated Burkitt lymphoma/@PHENOTYPICFEATURE$, with acceptable toxicity.	false
+2c6619ed4e2316e169fe8106ec4a81e0afff66eb	We describe a patient with generalized morphea who also had peripheral blood @PHENOTYPICFEATURE$, fibrosis and inflammation of fascia, and @DISEASE$-globulinemia, features usually attributed to Shulman's syndrome.	false
+c14e30e8c4934245f42c561b2f862c1ad72afcd8	Her laboratory data showed mild @PHENOTYPICFEATURE$, @DISEASE$ gamma-globulinemia, mild proteinuria, and the reduced glomerular filtration rate with the increased urinary excretion of beta 2-microglobulin.	false
+5d438338a21922aebd0a552cb0ea0021c009f27c	Permanent central @PHENOTYPICFEATURE$ is the consequence of retinal pigment epithelium @DISEASE$ or hypoplasia and/or subretinal neovascularization leading to fibrous scarring.	false
+ab922970be4b84dc47c2bc322f0e4786c0051bbb	Eosinophilic fasciitis is a rare inflammatory disease associated with peripheral @PHENOTYPICFEATURE$, @DISEASE$-gammaglobulinaemia and contractures of any joint in the upper extremity.	false
+6721ed4014eee3f2a04444cb630f94ad3bcfe4e2	@DISEASE$-IgG4 syndrome is a rare cause of bilateral @PHENOTYPICFEATURE$.	false
+7668f9e7f729e5643b544ca68d2b9a7a5958eecf	Cerebrotendinous xanthomatosis (CTX) is a hereditary lipid storage disease characterized by @DISEASE$-cholestanolemia, cerebellar ataxia, xanthoma, and @PHENOTYPICFEATURE$.	false
+3b64f3cd36ec0b8c8f4ebb9af5e497c9aee29a08	Significant differences in the frequency of skin burns, redness, @DISEASE$ pigmentation, itching, eye injuries, and @PHENOTYPICFEATURE$ were observed among the welders and non-welders (P < 0.001).	false
+b5b873097b306636fb66f0f91ce6583091f5c989	68-year-old female patient with no significant medical history presents with a 3-month history of progressive neurological symptoms, which began with left eye @PHENOTYPICFEATURE$, blurred vision and non-painful jaw discomfort, followed by left spastic weakness and @DISEASE$-reflexia with positive Babinski and Hoffman signs.	false
+e30356fe111c8894296915152b22c353d999e860	This paper reviews melatonin as an overlooked factor in the developmental etiology and maintenance of schizophrenia; the neuroimmune and oxidative pathophysiology of schizophrenia; specific symptoms in schizophrenia, including @PHENOTYPICFEATURE$; circadian rhythms; and side effects of antipsychotics, including @DISEASE$ and metabolic syndrome.	false
+f36f727a8a7423003245d88f1c45504cd6b9dcb1	The major somatic psychiatric treatments--drugs, electroconvulsive therapy (ECT), and lobotomy--have produced an epidemic of neurological and brain dysfunction, such as @DISEASE$, associated with neuroleptic drugs, and @PHENOTYPICFEATURE$, associated with ECT.	false
+80c05fdb0e6c18f68056f0832b229bb9f8f434fe	Furthermore, YKS has previously been found to improve clinical symptoms, such as @PHENOTYPICFEATURE$, neuropsychiatric and cognitive impairments, pain, and @DISEASE$.	false
+1f5f13cee0e3b46a56d1437397c160c19405a958	The present report is @DISEASE$ associated with a @PHENOTYPICFEATURE$.	false
+c7fc282c2c9bf949d31dd12dff3037fb846a389f	[A case of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+0985a6f4e072fa17c1a42b638c835d93887dec43	I. Prevalence in @DISEASE$ and non-@PHENOTYPICFEATURE$ populations.	false
+f9718073618efcbd002dfb5037ba112d7d862bf7	To compare the effectiveness of medical, laser, and surgical treatments in adults with @DISEASE$ with regard to decreasing intraocular pressure and preventing optic nerve damage, vision loss, and @PHENOTYPICFEATURE$.	false
+ac6d4629befc75d64c413e46dcce6b3bac254ef4	To compare the effectiveness of medical, laser, and surgical treatments in adults with @DISEASE$ with regard to decreasing intraocular pressure and preventing optic nerve damage, @PHENOTYPICFEATURE$, and visual impairment.	false
+e655b6487015144345f3cfa0016042b319231c0b	The authors report a new dominant @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+db1877116ed8c5e0efe1eeb7ccdc2d727c9fc1f8	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+2822864c883336332bcd1908cd939a601e2bb147	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+c33aab2624c9b17aaf36daa53adc2a19a8caf90b	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+b158d0870d2c44a9d8b65b1d6e7299d70c159c55	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+23273001f09b1ddbac14b4886bbeb82e5546891f	The frequency distribution of the various subtypes of glaucoma was: @DISEASE$ (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract @PHENOTYPICFEATURE$ (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), pigmentary glaucoma (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+59e04fa2f51d31aa97b1a8223b9a9a43e1c7f974	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), @PHENOTYPICFEATURE$ glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+b5dbc77f812b3ac28453100d764d993dfd14a452	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), @PHENOTYPICFEATURE$ glaucoma (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+7d3b136e73ea2872d8fdb10b54f095775508138a	The frequency distribution of the various subtypes of glaucoma was: open-angle glaucoma (72.2%), aphakic glaucoma (9%), uveitis @PHENOTYPICFEATURE$ (6%), exfoliative glaucoma (3%), glaucoma secondary to ocular trauma (2.2%), cataract glaucoma (1.7%), normal tension glaucoma (1.7%), congenital glaucoma (1.7%), neovascular glaucoma (1.3%), @DISEASE$ (0.6%), corticosteroid-induced glaucoma (0.6%), and glaucoma associated with retinoblastoma (0.6%);	false
+3092e1c145a2dd3fa2408af34eed84802e4fe266	OTHER GLAUCOMAS: Latanoprost may provide effective IOP control in angle-closure glaucoma after iridectomy, in @DISEASE$, @PHENOTYPICFEATURE$ after cataract extraction and steroid-induced glaucoma.	false
+8017da3df80395c93dd72cc9200aef6e60757d3f	OTHER GLAUCOMAS: Latanoprost may provide effective IOP control in angle-closure glaucoma after iridectomy, in @DISEASE$, glaucoma after @PHENOTYPICFEATURE$ extraction and steroid-induced glaucoma.	false
+ec10d1066fc84361228d0310fed3aaed922fb0da	@PHENOTYPICFEATURE$ capsulare in patients with @DISEASE$ in Hungary.	false
+1cea8bdcf4a35bcbfca032fd71ab4e7548127450	These include standards for the comprehensive eye exam, as well as four disease-specific guidelines--@DISEASE$, glaucoma suspect, diabetic eye disease, and @PHENOTYPICFEATURE$.	false
+a7b1c70b79ddda17aa6a2a6dc346caffc4ba672b	These include standards for the comprehensive eye exam, as well as four disease-specific guidelines--@DISEASE$, @PHENOTYPICFEATURE$ suspect, diabetic eye disease, and cataract.	false
+90ce2860bd42f4b7fdf1202cf785e3fa70b88a01	[@DISEASE$ and capsular @PHENOTYPICFEATURE$--a clinical and histopathological report].	false
+246e192ad52e06c6706ccd5c1d18045eec560cf1	Long-term prognosis of visual field in @DISEASE$ and @PHENOTYPICFEATURE$ capsular.	false
+4a672b42d3d88ddca9f7783e72f2e99703978e40	Five-year incidence of @DISEASE$: the @PHENOTYPICFEATURE$ project.	false
+00623f066f2a30297e12273230322a0e7d2adef5	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$, the gene for which is localized to 4q35.	false
+08f5355e4ab31e2fb813d58e33c481db01d2cb0c	We present what we believe to be a unique case of synchronous bilateral gestational gigantomastia resembling fibrous mastopathy, synchronous rapidly growing pregnancy-associated nodular pseudoangiomatous stromal hyperplasia involving right breast and bilateral axillary ectopic breast tissue, and metachronous perianal mammary-type @PHENOTYPICFEATURE$ involving anogenital mammary-like glands occurring in a 34-year-old patient with @DISEASE$.	false
+323f747a53750bba2600e871c0efb907195905b4	The Traumatologic-and-Orthopedic Department of Axial Skeleton Pathology examined patients with scoliotic spinal deformity due to muscular dystrophy: 1) severe Duchenne X-linked muscular dystrophy (n=7); 2) Erb-Roth's autosomal recessive @PHENOTYPICFEATURE$ (n=2); 3) Landouzy-Dejerine @DISEASE$ (n=2).	false
+1097607ae24044352cb3e8a0e789e1c1f8bf29ba	Facioscapulohumeral dystrophy (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$.	false
+f8bbb03b553a52927886c4574974f2fa03a90fd7	@DISEASE$ (FSHD) is an autosomal dominant @PHENOTYPICFEATURE$.	false
+76728f478c397dc81747f920661df441c2d9cac8	Facioscapulohumeral muscular dystrophy (@DISEASE$) is a dominantly inherited @PHENOTYPICFEATURE$ with a distinctive clinical presentation.	false
+1bcca30d327e12729fb77b6610a3b838e8a180ec	@DISEASE$ (FSHD) is a dominantly inherited @PHENOTYPICFEATURE$ with a distinctive clinical presentation.	false
+507775d6d1a7468394a4183b05d19aadbf294d80	In the adductor pollicis muscle of patients with limb-girdle and @DISEASE$ and possible carriers of Duchenne type @PHENOTYPICFEATURE$, abnormal active state properties were found at the time when there was no alteration of needle electromyography and evoked muscle action potentials.	false
+b55fe576fe1fdb65b1878d4ec29796bd863a4032	Gene localizations are known for Emery-Dreifuss muscular dystrophy, @DISEASE$, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive @PHENOTYPICFEATURE$ and Fukuyama muscular dystrophy.	false
+74af79f5ea517519ba1b281d22b39fcf5f65bd18	Gene localizations are known for Emery-Dreifuss muscular dystrophy, @DISEASE$, three forms of 'limb-girdle' muscular dystrophy, severe childhood autosomal recessive muscular dystrophy and Fukuyama @PHENOTYPICFEATURE$.	false
+d6309cc40532067982f19a7b79734bf878a9b399	Facioscapulohumeral muscular dystrophy (@DISEASE$) is a common autosomal dominant @PHENOTYPICFEATURE$ caused by truncation of D4Z4 repeat array on chromosome 4q35.	false
+a49ec60c5167fd49e75afecaf7cc35f08b83e77a	@DISEASE$ (FSHD) is a common autosomal dominant @PHENOTYPICFEATURE$ caused by truncation of D4Z4 repeat array on chromosome 4q35.	false
+6b390f60f9172fc2ee0ad0995d9e58be76b982ac	Facioscapulohumeral dystrophy (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$ in which no mutation of pathogenic gene(s) has been identified.	false
+dff4eaca1372cf45ce95a7b0c19c602b3f1559a9	@DISEASE$ (FSHD) is an autosomal dominant @PHENOTYPICFEATURE$ in which no mutation of pathogenic gene(s) has been identified.	false
+ed39ca8aabdcf3cb689f724f2cfd8e06664017aa	@DISEASE$ has a complex clinical phenotype, including skeletal dysplasia, hepatosplenomegally, sensory deficits, @PHENOTYPICFEATURE$, and premature death.	false
+8278e1f7d84e674b7e7ff26966f942c61d274091	Both women, age 40 and 39, presented with @PHENOTYPICFEATURE$, hydronephrosis, and past medical histories significant for @DISEASE$ (AML).	false
+788199a9b12d3359835ee92a7a39f13aefb3ad1d	The syndrome of @PHENOTYPICFEATURE$-pancytopenia is an autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and @DISEASE$.	false
+efc9d96dda9e584d30ff2eab32c935a6258fc863	The syndrome of ataxia-pancytopenia is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and @DISEASE$.	false
+1395a6a41ba11280cdf1e5aa2e43522ac57b2ffb	Ataxia-pancytopenia: syndrome of @PHENOTYPICFEATURE$, hypoplastic anemia, monosomy 7, and @DISEASE$.	false
+2fdd98620202bad719934662b55a7f447ca85e5a	It manifests usually in childhood with neurologic disorder (@PHENOTYPICFEATURE$ or atrophy) and/or hematologic disorder (marrow hypoplasia, myelodysplasia, @DISEASE$, or pancytopenia).	false
+f1530e6cfc3024c21113cc7b0f8309327fa88b59	A 43-year-old patient admitted with @DISEASE$, developed bronchopneumonia and @PHENOTYPICFEATURE$ during profound neutropenia.	false
+3491c33edc8b30d62af438dd3fcd60e5afda6ded	It is characterized by seizures, @PHENOTYPICFEATURE$ and hamartomatous lesions, including facial angiofibroma, subependymal giant cell astrocytoma, cardiac rhabdomyoma and renal angiomyolipoma (@DISEASE$).	false
+ceafcc7fc6eb63fa8c31acd55cb22d9c52477eae	It is characterized by @PHENOTYPICFEATURE$, mental retardation and hamartomatous lesions, including facial angiofibroma, subependymal giant cell astrocytoma, cardiac rhabdomyoma and renal angiomyolipoma (@DISEASE$).	false
+36c418ad6a563b31893b5191eae4c7378f8d6fd6	A patient with @DISEASE$ developed severe hypophosphatemia manifesting by extreme weakness, confusion, loss of sphincter control, nuchal rigidity, @PHENOTYPICFEATURE$, hemolysis, congestive heart failure and liver dysfunction.	false
+1d86762f4822c324fed04d58773795fc55ce0cc6	Moreover, the results obtained with @DISEASE$, and preliminarily with chemically inhibited CB, suggested that phospholipid hydrolysis is important to trigger @PHENOTYPICFEATURE$ and convulsions.	false
+876df13901d5d4e2c0e05baf326699572bab8b3d	We report a patient with non-Down syndrome @DISEASE$, also known as AMKL, with monosomy 7, who was also obese and had a hearing impairment and @PHENOTYPICFEATURE$.	false
+b4219304cade31a20e68a71f62b8b2c5f927bee0	@PHENOTYPICFEATURE$ with postictal hemiparesis due to cerebral infarction can be a rare manifestation of @DISEASE$.	false
+9dbb0c3e6c9d3387aa8c93bdda9e7e6166e665f8	@DISEASE$ is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and @PHENOTYPICFEATURE$, including conductive hearing loss.	false
+e287d6f5fee3e4459458fa9cc460ad7962194638	Case report of a @DISEASE$-like phenotype with a de novo @PHENOTYPICFEATURE$ in CHEK2.	false
+0ced7e19cbd5f7862f0a4acebebc18040742d624	@DISEASE$ (LFS) is a rare hereditary cancer syndrome associated with an autosomal dominant @PHENOTYPICFEATURE$ inheritance in the TP53 tumor suppressor gene and a wide spectrum of cancer diagnoses.	false
+1b8fed733e6febf75b171109632773ca03331153	Male subjects with hemizygous mutations in MCT8 are afflicted with severe intellectual and motor @PHENOTYPICFEATURE$, also known as the @DISEASE$ (AHDS), which goes together with low serum T4 and high T3 levels.	false
+2cbf896e346a8a96dcfb4f6c4254dd9c0f2f10aa	We report on a German male with @DISEASE$ presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular @PHENOTYPICFEATURE$ at his current age of 9 years.	false
+37a4ec4f1ca81c795f2e6747dfcc7393fe027b2e	We report on a German male with @DISEASE$ presenting with severe intellectual and motor @PHENOTYPICFEATURE$, paroxysmal dyskinesia combined with truncal muscular hypotonia, and peripheral muscular hypertonia at his current age of 9 years.	false
+230588f3a9f25f9358a27dfa78b05468cceaf4b0	We report on a German male with @DISEASE$ presenting with severe intellectual and motor disability, paroxysmal dyskinesia combined with truncal @PHENOTYPICFEATURE$, and peripheral muscular hypertonia at his current age of 9 years.	false
+8e8bb7810dd821a8621a83d3c953488eb71410cc	The Allan-Herndon-Dudley syndrome (@DISEASE$) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, @PHENOTYPICFEATURE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+a99e2101552fa1c8049295ee90411a3e3c0909f2	The @DISEASE$ (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, @PHENOTYPICFEATURE$, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) parameters.	false
+3dfac4419e0a3eecf94b88b1d2a26571ab96d8b5	Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor @PHENOTYPICFEATURE$ and abnormal serum thyroid function tests, a syndrome known as @DISEASE$ (or: Allan-Herndon-Dudley syndrome, AHDS).	false
+e94f9a8729a03022fae13e345db18549e29c39e3	Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor @PHENOTYPICFEATURE$ and abnormal serum thyroid function tests, a syndrome known as MCT8 deficiency (or: @DISEASE$, AHDS).	false
+a77d2f69adf8dd85f5774102ea37481788a87b18	The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of @PHENOTYPICFEATURE$ growth factor beta induced protein results in the @DISEASE$ phenotype.	false
+ea76ebdd4dfb473e145184ec694d6a0c10ac0294	A 35-month-old black boy with @DISEASE$ (HSS) was evaluated for @PHENOTYPICFEATURE$ when he presented with ketotic hypoglycemia, microgenitalia, and short stature.	false
+6037374e2b914d1aaa0a9c1579728100ff7bb7c2	@PHENOTYPICFEATURE$ as a neurological complication of @DISEASE$.	false
+6037374e2b914d1aaa0a9c1579728100ff7bb7c2	@PHENOTYPICFEATURE$ as a neurological complication of @DISEASE$.	false
+0d0af0a1c5bdd8e77c49194f6527d99118cae13e	@DISEASE$ is a severe @PHENOTYPICFEATURE$ characterized by a hypomineralized skull that has been previously described as kleeblattsch?del (cloverleaf skull) and overtubulated long bones.	false
+f4eb4fe2b7ce7018bb5a447a5473f23156149a6a	Relatively common birth defects for which there are currently no published GWAS include neural tube defects, anotia/@DISEASE$, anophthalmia/@PHENOTYPICFEATURE$, gastroschisis, and omphalocele.	false
+e2c6c5dad3232792d9b673f825c5e59e8339fea1	Relatively common birth defects for which there are currently no published GWAS include neural tube defects, anotia/@DISEASE$, @PHENOTYPICFEATURE$/microphthalmia, gastroschisis, and omphalocele.	false
+4c0b3b6c70802e9ec80e3a802c1c52ec2f4de5e5	Familial @DISEASE$ with external ear canal atresia and @PHENOTYPICFEATURE$ is rarely reported.	false
+9000987f8c94a5d035f44d1fa1df8aa390c96555	[Hypertelorism-@DISEASE$-facial cleft-@PHENOTYPICFEATURE$].	false
+f3503448c181f7d189380e8d18adabe601210651	Skin mastocytosis with short stature, @PHENOTYPICFEATURE$ and @DISEASE$: a new syndrome.	false
+75d77e7482773474c4c366310944b32fade65d93	The prevalence of oculo-auriculo-vertebral spectrum, defined as @DISEASE$/@PHENOTYPICFEATURE$ and at least one major characteristic anomaly, was 3.8 per 100,000 births.	false
+c01d522e2fba88c2298b156f1bbf23010813dd2b	Familial @DISEASE$, meatal atresia, and @PHENOTYPICFEATURE$ in three siblings.	false
+7b97ad17780fcf395aebf337b15fd138dbcb8fd5	Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/@PHENOTYPICFEATURE$ and anotia/@DISEASE$.	false
+2f3714348919c3bfbb0411f862b3b587a5d53f15	We describe a large family with congenital @DISEASE$, auditory meatal atresia and @PHENOTYPICFEATURE$.	false
+47ffef2f5a891279daeae82054c1f3f7041d9674	@DISEASE$ is one form of @PHENOTYPICFEATURE$ representing the defect of a partial or total loss of external ear.	false
+4c890f88b5315c00be2b665cb803258c94f35523	Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/@PHENOTYPICFEATURE$ (1.9 vs. 1.2) and two-fold higher for anotia/@DISEASE$ (2.6 vs. 1.2).	false
+ace003485d9ba58e3d5fda556011717eec26a503	We review the clinical features of the disease relevant to anaesthesia and describe the perioperative care of an 18-month-old boy with @DISEASE$ who underwent endoscopic third-ventriculostomy for @PHENOTYPICFEATURE$ associated with a brainstem mass.	false
+fc37898bbedd8697b4cd4c6ddcfa1e39117b176b	@DISEASE$ (PBC) is a chronic cholestatic progressive liver disease frequently associated with various @PHENOTYPICFEATURE$.	false
+6e8f1d50c1a1ab674de56a5b327901ad94309226	@PHENOTYPICFEATURE$ is recognised in the early stages of @DISEASE$ (PBC).	false
+9ef1b357ff40892f70963623d027cd3fbad54ac4	We summarize data obtained in humans and preclinical models of autoimmune diseases such as @DISEASE$, type 1 diabetes, multiple sclerosis, @PHENOTYPICFEATURE$, rheumatoid arthritis, psoriasis and atherosclerosis.	false
+f61394a860098d6e216f2d444274f28a2ad5d15a	Patients with scleroderma, @DISEASE$ (PBC), @PHENOTYPICFEATURE$, and mixed connective tissue disease were studied.	false
+abda7330b59313c8453d285c678b52c7202b65a7	The second patient, with @DISEASE$ at an advanced stage, had a percutaneous liver biopsy followed by gastrointestinal bleeding, severe @PHENOTYPICFEATURE$, and finally death.	false
+a02738643a04364ac23437c10a05072d8831eeba	Together with DRB1*1101, DRB1*0801 has been associated with several diseases including multiple sclerosis and @DISEASE$, which themselves are associated with @PHENOTYPICFEATURE$.	false
+9b750cdcdac824dbff38e07e7311b99bcddd34d8	Graves' disease, myasthenia gravis, @PHENOTYPICFEATURE$, type 1 diabetes, systemic sclerosis, coeliac disease, autoimmune pancreatitis and @DISEASE$).	false
+c9a104712cbf31d628570be7399e201e93b1efdd	Finally, 9-30% of patients with Sj?gren's syndrome and/or @DISEASE$ had a mild and intermittent @PHENOTYPICFEATURE$.	false
+4b4b61647b6c6f5703aa3a953c6d2e6400e00f3e	CLEC16A variation has been associated with multiple immune-mediated diseases, including type 1 diabetes, multiple sclerosis, @PHENOTYPICFEATURE$, celiac disease, Crohn's disease, Addison's disease, @DISEASE$, rheumatoid arthritis, juvenile idiopathic arthritis, and alopecia areata.	false
+286f1a7825431b1acf3c8c86a03a8c6c52b1dd5c	@PHENOTYPICFEATURE$ and unexpected myasthenia gravis associated with @DISEASE$, ulcerative colitis and vitiligo.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+2349f790cb5b2c8a0f3339bf6c1a2510d8226c00	@DISEASE$, which shows X-linked dominant inheritance, is characterized by corpus callosum agenesis, infantile spasms, chorioretinitis, chorioretinal lacunae, psychomotor retardation, microphthalmy, @PHENOTYPICFEATURE$ and vertebral abnormalities.	false
+2edbe2d6411db4be0c237ea6ef7c5ad9ee8f4632	The @PHENOTYPICFEATURE$ induced by @DISEASE$ in the Gunn rat was analyzed neurochemically and immunohistochemically.	false
+0ffde6e53c3186e5289df8d67fec0d352408abdd	Neurochemical studies on the @PHENOTYPICFEATURE$ of Gunn rat (@DISEASE$ rat).	false
+87ba6a834db591036a43973ed7fffdc5fe96a064	Brain DNA synthesis was developmentally investigated in Gunn rat with marked @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+a85655c2a404ecd3b4ce4177a10c28bbedbab9f0	@PHENOTYPICFEATURE$ in the Gunn rat with @DISEASE$: immunohistochemical and neurochemical studies.	false
+370c398dc5b327c1dfe1c303881ce3f073f8e8d7	The only causative genes so far identified for the non-congenital primary lymphoedemas are the transcription factor FOXC2, where mutations are known to produce lymphoedema with distichiasis, and SOX18 in the very rare condition @DISEASE$-@PHENOTYPICFEATURE$-telangiectasia.	false
+864d6e1d49ef275048db94d6daaaeaf30f208431	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, cataracts, micrognathia and @PHENOTYPICFEATURE$.	false
+6e6a7d07feb13b2f2e6514176ac4dcb9d11cf527	He had a bird-like face, pinched nose, @DISEASE$ of the scalp, mandibular hypoplasia with forward displacement of the temporomandibular joints, a small mouth, and @PHENOTYPICFEATURE$.	false
+f574f2e1564e8f54a5eff0b82b12446c4dabcebf	Physical findings included intracutaneous swellings, ulcerated plaques and nodules, @DISEASE$ and @PHENOTYPICFEATURE$ of the skin.	false
+aa0e4d76d105af751eb6fc3ad81d46119ad96eec	A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized @DISEASE$, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and @PHENOTYPICFEATURE$ areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+d0fc785be043f7d5a195a462ea42b08fefc8af06	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+134de02b4dbe6e85653a9cb711e3d5b8a425d476	Lepromatous pole of leprosy on the other hand showed characteristic xerosis and white scaling on dermoscopy in the background of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+430ee042c04b29247e08b2c2743632e3f1e7a307	The presenting complaint was bilateral @PHENOTYPICFEATURE$ of the legs; additional symptoms include @DISEASE$, telangiectasias and angiomata limited to acral regions.	false
+3ec9756c6aa9144df0d7e1c20f2dcad6775193d3	Eleven patients with @PHENOTYPICFEATURE$, medio-facial hypoplasia and @DISEASE$ were examined.	false
+b861086b8c7e678ab7274e8a486c48718f942c29	Cochlear implantation in a child with @DISEASE$ who also has @PHENOTYPICFEATURE$.	false
+0a997df7d46a0c5a7e6971075c45ec2576f3c7f0	In this report the authors discussed some of the radioprotectors potentially interesting for radiation-induced @PHENOTYPICFEATURE$ or @DISEASE$ prevention.	false
+0f569f57a03c887262cb46dd2a87fe9f39e9273f	They are currently used in preventing radiation-induced xerostomia and should be further tested in the prevention of late radiation-induced ocular complications such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+25a35ed6b72cae7a6393552d56b3d2055b9da0ff	Further complications included @DISEASE$ in nine cases, @PHENOTYPICFEATURE$ formation in 10 cases, and radiation optic neuropathy in four cases.	false
+54a8950b627eec4c8bb2a7716d39d04152d75678	@DISEASE$ and conjunctivitis were increased in patients with previous acute GvHD and @PHENOTYPICFEATURE$ were less frequent in patients with aplastic anaemia.	false
+247e3633ca67eddd88e17cf5721a8f8627633128	Clinically, the phenotype associated with this lysozyme mutation featured chronic abdominal pain, diarrhea, @PHENOTYPICFEATURE$, malabsorption, and @DISEASE$.	false
+c984bdc039ebc20cbce74caf42274391c70e7899	We describe a new mutant lysozyme that presents with abdominal discomfort, diarrhea, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e6d951641ede80c0da28b1cb77d82bed18f76733	Secondary efficacy parameters assessing perioral skin sclerosis, maximum mouth opening, @DISEASE$, and facial @PHENOTYPICFEATURE$ significantly improved at 3 and 6 months postsurgery.	false
+81e36b948c2514cf73facf0800182307f15a76aa	None was a corneal-contact lens wearer, one had previous @PHENOTYPICFEATURE$ surgery and another suffered rheumatoid arthritis @DISEASE$.	false
+00df672d54c0f55f4cbb0e531ee7ebe1b9795179	Initial @PHENOTYPICFEATURE$ was partially reversible with intra veinous steroid therapy but four months later she underwent a controlateral visual loss and showed for the first time clinical manifestation of @DISEASE$.	false
+c46b843e973482f5228d476b8bf03f1d1b899fee	Initial visual loss was partially reversible with intra veinous steroid therapy but four months later she underwent a controlateral @PHENOTYPICFEATURE$ and showed for the first time clinical manifestation of @DISEASE$.	false
+aca08824c5c04901568882283afc9d0d398d1481	Glucocorticoid therapy combined during six months with monthly intravenous pulse cyclophosphamide ensured resolution of the @DISEASE$ but failed to improve the @PHENOTYPICFEATURE$.	false
+175792b18aca8fbd00557208d91cd5a88d07df97	We report these cases of high-frequency @PHENOTYPICFEATURE$ and tinnitus, following @DISEASE$ prophylaxis with mefloquine (Lariam).	false
+6eab6fb9239f9efdb5f0fcd0e8f2eeb5c956a287	The most frequent causes of pancytopenia in both national ethnic groups were @DISEASE$ (29.44%) fallowed by tuberculosis (17.22%), @PHENOTYPICFEATURE$ (16.67%), aplastic anaemia (13.33%), hepatitis (12.22%), other diseases (7.22%) and iron deficiency anaemia (3.89%).	false
+8e5c1f8f98ef41111f88466490a65e63d8b7add2	A case of an acute reversible @PHENOTYPICFEATURE$ in a 10-year-old child who was on mefloquine prophylaxis, and was treated with artesunate-amodiaquine for an acute febrile illness diagnosed clinically as uncomplicated @DISEASE$, is reported.	false
+ce88ed73604d93ff020edaa51aeed874718e82f7	Prostration, respiratory distress and severe anaemia were the commonest features of severe @DISEASE$, while shock, acute renal failure and @PHENOTYPICFEATURE$ were the least presenting features Of all the features, only severe anaemia was significantly related to age, (?2 = 5.027, P = 0.02).	false
+32441058fffb3534f6964736f879f68ff1110486	Symptoms recognized by the TBAs as signs of complications in pregnancy were dizziness, swollen feet, pallor, tiredness, absent foetal movement, loss of appetite, heaviness, pain in back/stomach/side, @PHENOTYPICFEATURE$, vomiting, bleeding, fever/@DISEASE$, head ache, bad dream, premature or delayed labour.	false
+bde1939cbc6325961877c72a1c1b0bf5ab1663b0	We describe the case of a 33-year-old patient with recurrent tropical @DISEASE$, comma and isolated subpigmentepithelial macular hemorrhage causing irreversible @PHENOTYPICFEATURE$.	false
+42d63e9a662370b03bf18d84eaa80376e6c45773	HTLV-I antibodies in blood donors, patients with @PHENOTYPICFEATURE$, acute @DISEASE$ and multiple blood transfusion recipients in the Cross River State of Nigeria.	false
+bcf10186f35e19c7a1f8bb5271f9f17383fa4802	Exciting preliminary results with probucol (antiatherosclerosis), ebselen (anti-inflammatory), and iron ion chelators (in thalassaemia, @PHENOTYPICFEATURE$, @DISEASE$, stroke, traumatic brain injury and haemorrhagic shock) need to be confirmed by controlled clinical trials.	false
+4e1308450f8d23798059021f053d98a684d61eac	Thrombocytopaenia is a common complication of dengue and other viral fevers apart from @DISEASE$, typhoid, leptospirosis, @PHENOTYPICFEATURE$ and megaloblastic anaemia.	false
+7d9bcd5957e2021e5b45ec1f0e8ff6b7f1ad3484	The most frequent morbidity episodes reported were upper respiratory tract infections (13.3%), suspected @DISEASE$ (5.85%), skeletal @PHENOTYPICFEATURE$ (4.87%), and stomach pain (4.42%).	false
+b40cf89ffe26abf4dd8fc5c709cf1daa759dd877	Paraproteinemia @DISEASE$ causes @PHENOTYPICFEATURE$ via an unknown underlying pathogenetic mechanism.	false
+49f45238d74534387682566fe6d04c7fcc72bdae	Many patients with @DISEASE$ also report symptoms not attributable to orthostatic intolerance, including those of functional gastrointestinal or bladder disorders, chronic headache, fibromyalgia, and @PHENOTYPICFEATURE$.	false
+7f2e66fb7a4f37538406dcc2e83315d81651830f	This supports the hypothesis that patients with @DISEASE$ may have a selective @PHENOTYPICFEATURE$, with small responses in some regions being compensated by overactivity in other regions.	false
+5fc7bcf7e101d907e9dca182c8d992bab73eb0a4	Here, we investigated the prevalence of @PHENOTYPICFEATURE$ in @DISEASE$ patients, as well as the use of medication and effects on daily life.	false
+0b1ea2b04ad5d119a96467c5c6a9fca2cca06b1d	IgM MGUS @DISEASE$ with predominant muscle weakness and extensive @PHENOTYPICFEATURE$.	false
+b559f3bb3ad31de339a812485ddc4366d893dd58	Cardiac involvement during @DISEASE$ often causes complications, including @PHENOTYPICFEATURE$.	false
+10b95d43b5f4d468846fea5398f37ae86ac7f9e8	[@DISEASE$ presented as recurrent multiple cranial nerve palsy after spontaneous regression of @PHENOTYPICFEATURE$: A case report].	false
+2ef43961bda0aa86917b3a01a574971f2b70f9e9	Anaplastic @DISEASE$ kinase (ALK)-positive large B-cell lymphoma in a patient treated with azathioprine for @PHENOTYPICFEATURE$.	false
+4a8727d1d7dd2695afbb8a395a7eaa23c16d7623	A serum inhibitor of neutrophil chemotaxis associated with hyperglobulinaemia E in a patient with @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3f2940b00503871abe811573b244bb0366b317f3	Successful oral desensitization against @PHENOTYPICFEATURE$ induced by alectinib in a patient with anaplastic @DISEASE$ kinase-positive lung adenocarcinoma: A case report.	false
+b6638303daba686b171969aec4a90bbff119f06a	[T-cell cutaneous @DISEASE$: epidermal cysts, comedo and spinulous @PHENOTYPICFEATURE$].	false
+bc54c3a7f0f9513a5ebc81e7d665cce7ca31aa93	@DISEASE$ and uterine cancer are previously unreported as associated with @PHENOTYPICFEATURE$ osis lanuginosa.	false
+3f02913d6d003fa81dedd7c1392644b0d816547e	We report the case of a 62-year-old man who presented with @DISEASE$ as recurrent multiple cranial nerve palsy after spontaneous regression of @PHENOTYPICFEATURE$.	false
+f810df2bf3c9dc6dae9cf6c432d41871aa2a6591	Lennert's @DISEASE$ presenting with clusters of @PHENOTYPICFEATURE$.	false
+ee3d06361db11754fad41018b242ee218ef98a6d	Nijmegen breakage syndrome is characterized by microcephaly, growth retardation, @PHENOTYPICFEATURE$ appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly @DISEASE$.	false
+9690ee8f4a4e03267770cb53fdb52fa302703d20	Nijmegen breakage syndrome is characterized by @PHENOTYPICFEATURE$, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly @DISEASE$.	false
+abad7be1056c24fb72bc0c9b6734b4751d42d7c8	This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of @PHENOTYPICFEATURE$), POU3F4 (mutated in @DISEASE$) and ITM2A (a gene involved in cartilage development).	false
+e5637028e906fa39ebd762e08d83848eec0a4b53	A case of congenital @DISEASE$ combined with non-progressive inner ear hearing loss bordering on @PHENOTYPICFEATURE$ is reported.	false
+3777e3a31019e995d26f405a92291ce976e773b9	@DISEASE$ was suspected and prednisolone started with prompt resolution of the headache, chin @PHENOTYPICFEATURE$, ESR, and CRP.	false
+3412b5620c6139fc30f678ed3d51ddd56bdfb729	Further efforts should be directed toward elucidating the origin of iron in @DISEASE$, the role of iron in infection and @PHENOTYPICFEATURE$, and the nature and role of brain iron.	false
+ff70c4770fb90ba2f8cfe479aeded863c92a5618	It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental @PHENOTYPICFEATURE$, osteosarcoma, @DISEASE$, and mesenteric fibromatosis.	false
+d781e9ebd012403593ea54410c30cbd1f45ac499	We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy, autism, schizophrenia, structural brain @PHENOTYPICFEATURE$ dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects, and @DISEASE$.	false
+f38f1bd6fd93dd0397e3a7ece8a0109f61bb240d	Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, @PHENOTYPICFEATURE$, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or @DISEASE$ and mild to moderate mental retardation.	false
+400eec92919b4dcb923dc1a475188349ae443cb0	The association of @DISEASE$ and @PHENOTYPICFEATURE$ also suggested a diagnosis of Feingold syndrome.	false
+ef35eb67378f5f9f536dabb484cb501ee8e502f6	We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates @PHENOTYPICFEATURE$, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and @DISEASE$.	false
+8ce16febbe1a88498637013f8a50ac96846cb057	Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, @PHENOTYPICFEATURE$, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and @DISEASE$, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia.	false
+3744eae1db343b0f192140b63b328de993fceff3	Oculodigitoesophageoduodenal (ODED) syndrome (also known as "Feingold syndrome") is a rare autosomal dominant disorder with digital abnormalities, @PHENOTYPICFEATURE$, short palpebral fissures, mild learning disability, and esophageal/@DISEASE$.	false
+9a86266e2750549c3d731b2828a97ff09fe371a8	Systemic abnormalities include @PHENOTYPICFEATURE$, bilateral hearing loss, and @DISEASE$.	false
+d126a072de905460a8c1785db6931dfef5835375	These included: @PHENOTYPICFEATURE$, bilateral closed-lip schizencephaly, @DISEASE$, and complete paresis of the left upper extremity.	false
+333dcd1dd697fa72630c46207cae8e04a17dc152	Three hypothetical cases were presented with treatment options: (1) An infant with Down syndrome and @DISEASE$, (2) an infant with meningomyelocele and @PHENOTYPICFEATURE$ and, (3) an extremely low birth weight infant of 700 g and 28 weeks' gestation suffering from birth asphyxia.	false
+a1c34a93cf8890f5da7271137bcf7034dce1ec52	A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, @PHENOTYPICFEATURE$, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and @DISEASE$.	false
+f660e69b337b254196938d3b83982874c04bf0ae	By performing multiple linear regression models, we demonstrated that age, male gender, the presence of secondarily @PHENOTYPICFEATURE$, and phenobarbital use were slightly to moderately correlated with PSQI (r=0.38) and FLAQ (r=0.51) but not with @DISEASE$ scores.	false
+db17a3f69b85b0b306bd7f8057d1d171a7d316d3	Case 2 is a 50-year-old male with a past history of @DISEASE$ thrombosis with protein S deficiency who developed pulsatile tinnitus and @PHENOTYPICFEATURE$.	false
+e4cca527abe8c9cc0062480acc505e796fd948ec	The Arab Genetic diseases include Bardet-Biedl syndrome, Meckel syndrome, autosomal recessive severe childhood @PHENOTYPICFEATURE$, osteopetrosis and renal tubular acidosis, @DISEASE$ and others.	false
+a8095b3ae7d6ce28563dd6a78ffc89a854d27b9d	Case 1 is a 38-year-old male with protein S deficiency who developed @PHENOTYPICFEATURE$ due to @DISEASE$ thrombosis.	false
+e5571502be421cb57763dd2089715a49cf522399	There is growing awareness of sick sinus syndrome (@DISEASE$) and related arrhythmias as treatable causes of epilepsy, syncope, dizziness, confusion and some psychoses, as well as non-neurological symptoms such as episodic congestive heart failure, @PHENOTYPICFEATURE$ and palpitations.	false
+71030b39693eb6a1dbc26b7931f55dfc18d155ec	Insomnia, @PHENOTYPICFEATURE$, nocturia, Charlson Index, sex and age were associated with @DISEASE$ in a bivariate analysis.	false
+97ebc471f913b7037522b9e6aa07c7bd78d92af6	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, @DISEASE$, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+57ed3fb649d889631d604f12ae53f8b786697456	Of the total 936 live borns, 1.3% (12) were noted to have birth anomalies: three ventricular septal defects, one choanal and one @PHENOTYPICFEATURE$, one @DISEASE$, one Arnold-Chiari syndrome, one cleft palate, three clubfoot and one skin haemangioma.	false
+60d146bda20e0ae715c47137d438f25666faf2a6	To detect LZ in these cells morphologically, I have done electron microscopic observations of the following skin diseases; sarcoidosis, lupus vulgaris, lupus miliaris disseminatus faciei (LMDF), tattoo granuloma, lichen nitidus, foreign body granuloma, granuloma annulare, xanthelasma, @PHENOTYPICFEATURE$ tuberosum, xanthoma planum, juvenile xanthogranuloma, giant cell tumor of tendon sheath, dermatofibroma, malignant fibrous histiocytoma, @DISEASE$, granulation tissue of burn, hypertrophic scar, and histiocytosis X.	false
+249bf1eea0a9037300375ec437083643ba60d6ec	We report on a 41/2-year-old girl with congenital @DISEASE$, seizures, developmental delay, and a @PHENOTYPICFEATURE$, compatible with HRD syndrome.	false
+ac2af44d70ce15baca0ded17ff2dc03c9b30f9ae	@DISEASE$, @PHENOTYPICFEATURE$ and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).	false
+12b39bf5499e8311fd5c8bd78d277a2aba86d1a8	@DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$ (clinical triad of Andersen-Tawil syndrome).	false
+d974e48c90c1b50e127be251198b090b7d9cb92c	Common causes of hypokalemia include extrarenal potassium losses (vomiting and diarrhea) and renal potassium losses (eg, hyperaldosteronism, renal tubular acidosis, severe @PHENOTYPICFEATURE$, potassium-depleting diuretics) as well as hypokalemia due to potassium shifts (eg, insulin administration, catecholamine excess, familial @DISEASE$, thyrotoxic hypokalemic paralysis).	false
+b8562d8a91af2c301f24029b0415673cac8075f5	We report a case of @DISEASE$ with dysmorphic facial features and @PHENOTYPICFEATURE$ resembling Andersen-Tawil syndrome.	false
+dd210804854abf662254bcb40329f7eb16bef245	@DISEASE$ with neurological involvement and @PHENOTYPICFEATURE$: improvement with cladribine.	false
+376ef864612c06df4d92ea1f138ea68894cc8e85	[A rare form of hyperthyreosis; @PHENOTYPICFEATURE$ of the cranial vault in hyperthyroid @DISEASE$ (Troell-Junet's syndrome)].	false
+f5f29276874da06ec252a2a8de116f25a9814e7a	@PHENOTYPICFEATURE$ of the spine in diabetes mellitus and @DISEASE$.	false
+0356ac11d5808491b4922140301a5f4a948319e0	@PHENOTYPICFEATURE$ associated with @DISEASE$ is an uncommon condition.	false
+dde64cd3a1241ee893b8884d7033518b88e58358	We present a case in which @DISEASE$ (proteinase inhibitor ZZ phenotype) was diagnosed in a young white man with clinical signs and symptoms of @PHENOTYPICFEATURE$ and a history of Landry-Guillain-Barr? syndrome.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+63873d1530f25da815fd28e96ed7d26050ff340b	The @DISEASE$ (NPS) is an autosomal dominant connective-tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital @PHENOTYPICFEATURE$ cervical ribs and eye problems.	false
+1e7279009effb27040c3c56c24f390178a9d8f40	@DISEASE$, a rare and poorly documented disease in cats, was diagnosed in a 4-year-old domestic shorthair cat admitted because of @PHENOTYPICFEATURE$.	false
+0bf33d4b6b35876d199ef3a5b1aaf6eeaea613a0	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and @DISEASE$ (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, vomiting, syncope or even @PHENOTYPICFEATURE$.	false
+edcf36a00a167971b532db44ea80b88a85626a36	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, @PHENOTYPICFEATURE$ @DISEASE$ and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+43df3e2267743e9a4b8ce6affec10bf8d080e9d0	@DISEASE$ in @PHENOTYPICFEATURE$.	false
+bcac3c688f63365fc24cfa28cf0734d7326feccf	On the other hand, both children were born before term and presented with symmetrical @PHENOTYPICFEATURE$, early eating difficulties, moderate hypotonia, understated dysmorphic features and moderate psychomotor retardation, suggestive of a @DISEASE$-like phenotype.	false
+710d1172afc73b3f800cb553bc65801dcc01fddf	We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves @DISEASE$ (PWS), hereditary hemochromatosis (HH), and @PHENOTYPICFEATURE$-like symptoms.	false
+6ab5748faa1929bd9b4653ca427bb06953c8c6c3	Treatment measures including swallowing training can improve prognosis, prevent @PHENOTYPICFEATURE$ and obesity, and elevate quality of life in individuals with @DISEASE$.	false
+2c88834bf8ebfc266d2dd098879219170a7d369f	This one and half year old boy had the typical face of @DISEASE$ and its characteristic histories of hypotonia, poor feeding, @PHENOTYPICFEATURE$ during early infancy, and then improved appetite and growth since the later half infancy.	false
+0048d25039591ac32c56fe24cfadd43a146dcc2c	The increasing availability of biosynthetic pituitary GH has made it feasible to treat GH-deficient children and adults, and patients of short stature due to a variety of other causes (Turner's syndrome, anomalies of SHOX, @PHENOTYPICFEATURE$ (IUGR), chronic renal failure, @DISEASE$, or idiopathic short stature).	false
+16bd3b91825c4199db19bd47dc1110a5c0ee8386	@DISEASE$ (PWS) is characterized by psychomotor and @PHENOTYPICFEATURE$, infantile hypotonia, characteristic facies, small hands and feet, dental abnormalities, and early onset of childhood hyperphagia with consequent obesity.	false
+d912e1d0a5ee22556831c44e7ee0581be455ddc8	Linear @PHENOTYPICFEATURE$ and adult short stature are usual characteristics of @DISEASE$.	false
+b547ede80342137fea31045f0f33c7979a5a4c9a	@PHENOTYPICFEATURE$ during anesthesia in a child with @DISEASE$.	false
+4ebe6550944b58fa63893912653e37e94d28a0bf	Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, @PHENOTYPICFEATURE$ and partial lethality and provides evidence for a gene contributing to @DISEASE$.	false
+16377863b27659294d76ce707bb9e3151b11f80b	There were 274 patients with @PHENOTYPICFEATURE$; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, @DISEASE$, Niemann-Pick disease type C).	false
+75e57aab7e5fad6d54b86d607cb808d1b007aa74	The following diseases were diagnosed: sarcoidosis (n = 10), bronchiolitis obliterans organizing pneumonia (n = 3), usual interstitial pneumonia (n = 4), radiation @PHENOTYPICFEATURE$ (n = 2), desquamative interstitial pneumonia (n = 1), rheumatoid lung (n = 1), vasculitis (n = 1), alveolar proteinosis (n = 1), bronchioloalveolar carcinoma (n = 1), and @DISEASE$ (n = 1).	false
+c61c02578889d9048f57d134b061e73cbd66557f	BAL was performed in patients with EP including acute and @DISEASE$, and in patients with hypersensitivity @PHENOTYPICFEATURE$, and sarcoidosis.	false
+e63d18462939b0e602f2cd399d827ba5664252ba	Cells from bronchoalveolar lavage fluid of four patients with @DISEASE$ and four patients with eosinophilic infiltrates associated with Sj?gren's syndrome, drug hypersensitivity @PHENOTYPICFEATURE$, postradiotherapy fibrosis, and pulmonary disease associated with graft versus host disease were studied ultrastructurally and with immunogold labelled antibodies directed against eosinophil proteins: major basic protein, eosinophil cationic protein, and Charcot-Leyden crystal protein.	false
+8eb3a1c004b568153ec42304814ee34cbf142fca	CI manifests as impulse generation or conduction defects, focal or diffuse myocardial thickening, @PHENOTYPICFEATURE$ of the cardiac cavities, relaxation abnormality, hypertrophic, dilated, @DISEASE$, apical form of hypertrophic cardiomyopathy, noncompaction, Takotsubo phenomenon, secondary valve insufficiency, intra-cardiac thrombus formation, or heart failure with systolic or diastolic dysfunction.	false
+2ef8201234dd9703f6d9b8d19581fc3baba26b24	Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, @DISEASE$, gastrointestinal hemorrhage, and @PHENOTYPICFEATURE$ or hemorrhage.	false
+b185d4eee664488d4293bb35fbe206ceb4fa08f2	Case 5: 50-year-old woman with @DISEASE$, @PHENOTYPICFEATURE$ and proteinuria.	false
+2efcf915e66e67394a8a896d88fea08b0b094825	Risk of requiring respiratory support was highest in those with @DISEASE$ as indication for transplant, women, and those with elevated pulmonary pressure or @PHENOTYPICFEATURE$.	false
+2aa4e794b2523e11477eac18bac7bc29be2634a1	In addition to the usual features of obliteration of the apex and @DISEASE$, echocardiographic examination showed severe left ventricular dysfunction and intracardiac @PHENOTYPICFEATURE$, one of which was unusually localized to an aortic valve.	false
+be6ae46ccf19ceeb91da7327f0b865ab5e283666	Peripheral edema (PE) is commonly coupled with heart failure, @DISEASE$, nephrotic syndrome, @PHENOTYPICFEATURE$, and hypoproteinemia.	false
+304e9d54972f4c359bee3c2a4250c57c42167da6	In this case report, @DISEASE$ and congestive heart failure associated with left atrial and sinus venosus @PHENOTYPICFEATURE$ were diagnosed in a 2-yr-old captive lethargic McDowell's carpet python ( Morelia spilota mcdowelli), based on echocardiographic, Doppler, and histopathologic examinations.	false
+607832263849224d76c90be64967b42d72c21be2	The indications for transplantation were: dilated cardiomyopathy (48.5%); ischemic (35.3%); valvular (5.9%) and congenital (2.4%) heart disease; hypertrophic cardiomyopathy (2.2%); endocardial fibroelastosis (1.7%); @DISEASE$ (1.4%); anthracycline cardiotoxicity (0.8%); myocarditis (0.8%); cardiac @PHENOTYPICFEATURE$ (0.5%) and arrhythmogenic cardiomyopathy (0.2%).	false
+b74daf4460ede758354b0642a4b71f4b32445399	The PPVs were between 80% and 90% for recurrent myocardial infarction, first-time unstable angina pectoris, pulmonary hypertension, bradycardia, ventricular tachycardia/fibrillation, endocarditis, cardiac @PHENOTYPICFEATURE$, first-time venous thromboembolism and between 70% and 80% for first-time and recurrent admission due to heart failure, first-time dilated cardiomyopathy, @DISEASE$ and recurrent venous thromboembolism.	false
+290b85e2dce22b5dad45ef679c98efe7abb33225	Pretransplant cardiac diagnoses were familial amyloidosis (11), hemochromatosis (1), @DISEASE$ and cardiac @PHENOTYPICFEATURE$ (1), previously operated congenital heart disease and cardiac cirrhosis (1), and primary pulmonary hypertension with primary biliary cirrhosis (1).	false
+f1422259713e11667b48cee2d6b4ca8ff8ef83b2	Pretransplant cardiac diagnoses were familial amyloidosis (11), hemochromatosis (1), @DISEASE$ and cardiac cirrhosis (1), previously operated congenital heart disease and cardiac @PHENOTYPICFEATURE$ (1), and primary pulmonary hypertension with primary biliary cirrhosis (1).	false
+7877307d900a9f4ab9ef3cd26659249e678fa184	Five children likely had @DISEASE$ (FH), the other seven children may have hypercholesterolemia due to @PHENOTYPICFEATURE$ or environmental factors.	false
+cda8f9a6fe4e72365a7d2cc48ff386f101c3244b	Endothelial dysfunction and increased thickness of the intima media are currently observed in children with @DISEASE$, @PHENOTYPICFEATURE$, and type 1 diabetes mellitus.	false
+3756941ff0609dcee42f5a878783d1fdc400d55e	Limited data suggest that patients with @DISEASE$, @PHENOTYPICFEATURE$, or who are over 65 years of age might represent at-risk populations who would benefit from CoQ10 supplementation.	false
+2fba7dca50d8233234017f205405c86c9f88c380	Increased risk of @PHENOTYPICFEATURE$ and atrial fibrillation in heterozygous @DISEASE$.	false
+83ff8f16c06f2a43b5f3870c6e4a4f3ed387cc09	Indications for combined liver-heart transplantation include @PHENOTYPICFEATURE$ with associated cardiac cirrhosis, familial amyloidosis, @DISEASE$ and hemochromatosis, and homozygous ?-thalassemia.	false
+523a337188e2d0ac0526b29c241519d6a72716f4	The case of a 12-year-old girl, with a medical history of @DISEASE$ is reported here, operated two years previously for @PHENOTYPICFEATURE$; Ross intervention was done.	false
+587967df8e4e72fd26ab283ecb30b3df0fd7c0d0	The prevalence of CVD was 4.8%, and the prevalence of cardiometabolic risk factors ranged from 8.6% (@DISEASE$) to 40.5% (overweight or @PHENOTYPICFEATURE$).	false
+bdb6de3a4a629caff5b89f2b84ee410966565584	The patients did not have any diagnostic criteria for @DISEASE$, diabetes, or @PHENOTYPICFEATURE$, and also they were not opium or alcohol users.	false
+585999f77cb752fbfb13aecc5996aa4f390bd581	Polymorphisms within the LDLR gene are associated with the pathogenesis of @DISEASE$, atherosclerosis and @PHENOTYPICFEATURE$.	false
+8a60de65c5968fc666cd78a29a50fd83e9781cc0	[Discovery of a @DISEASE$ of xanthomatous origin on the occasion of etiologic exploration of a recently appeared @PHENOTYPICFEATURE$ in a 9-year-old child].	false
+e3dd4c7e104698549c6770db38b373f3a4462afe	Recurrent uveitis, a leading cause of @PHENOTYPICFEATURE$ in horses, often develops as a sequela to systemic @DISEASE$.	false
+ab85a47d8751701b06351dd67c3b3cab2b0f72c0	This chromosomal region is known to contain genes for human diseases such as non-syndromic autosomal recessive @PHENOTYPICFEATURE$ (DFNB8/10) and @DISEASE$ (APECED).	false
+0ffe83d8b690bc7fb037515b5509c79273ade35f	@DISEASE$ should be considered with diagnoses of @PHENOTYPICFEATURE$ cataract.	false
+b7593f5c3ff792cfdfd588aab09885cced595b58	Previously, we have demonstrated the presence of anti-calcium-sensing receptor (CaSR) antibodies in patients with @DISEASE$ (APS1), a disease that is characterized in part by hypoparathyroidism involving @PHENOTYPICFEATURE$, hyperphosphatemia, and low serum levels of parathyroid hormone.	false
+e73030e4a20cf7d60b0b33ca7da42f828226d1a9	Mouse @DISEASE$ deficiency causes severe @PHENOTYPICFEATURE$, microcephaly, and modest lethality.	false
+b499654866f883b6b5ea5629edba9e6071cc4600	Given its mapping position, C21orf2 is a candidate for involvement in disorders including autoimmune polyglandular disease type I (also called @DISEASE$ or APECED) and the autosomal nonsyndromic @PHENOTYPICFEATURE$ loci, DFNB8 and DFNB10.	false
+58a505a3b14f5203211bcddd85582f354e012af2	Other aetiologies included hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (5/37, 13?5%) and one patient each with @DISEASE$, Kearns-Sayre syndrome and Kenny-Caffey syndrome.	false
+98c1441c7cecb01ec95a9caeec8dd47ea43dae71	The number of AEs significantly associated with @DISEASE$ increased with increasing dose: one at 200 mg/day (dizziness); six at 400 mg/day (dizziness, vertigo, abnormal coordination, abnormal vision, nausea, and vomiting); nine at 600 mg/day (dizziness, @PHENOTYPICFEATURE$, ataxia, balance disorder, diplopia, fatigue, nausea, vomiting, and tremor).	false
+1cd4a6564df9d86843b3d182876c23724bc74ea2	The number of AEs significantly associated with @DISEASE$ increased with increasing dose: one at 200 mg/day (dizziness); six at 400 mg/day (dizziness, @PHENOTYPICFEATURE$, abnormal coordination, abnormal vision, nausea, and vomiting); nine at 600 mg/day (dizziness, vertigo, ataxia, balance disorder, diplopia, fatigue, nausea, vomiting, and tremor).	false
+90ce7575f29cceff0c4820f8ec735971d7b96e5f	We previously reported linkage in a large Mexican family with @DISEASE$ cosegregating with @PHENOTYPICFEATURE$ and with dental and palate anomalies to Xq24-27.	false
+2c8770c89189d73b5f9bb66ad8fd31f1ebd0912b	In this multicenter study, we examined 63 patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+76b9894d61db23fc522bfc006eb9b6c88bbd636d	Comparing malaria with @DISEASE$, jaundice, nausea, @PHENOTYPICFEATURE$, and reports of fever were more prevalent in the malaria group.	false
+da85ebf0058ea78c3a7a2f8874b5ef087f1c4962	@DISEASE$ syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and @PHENOTYPICFEATURE$.	false
+c83ba7956bcd5d6abe317010c9e8ecf65fad3ac4	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+fb7c6579f33d808eec7e7559034ccf217f735f0a	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+44cfbca6f3c6ca8d6bc3cc0f6e9f4c26485a2819	Manual and oral stereognosis in children with cleft palate, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, @DISEASE$ and Kallman's syndrome.	false
+2f60992d7d61c554bc9603a08bb256ea86b1c8ee	This study, the first of its kind in literature, revealed significant @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+2280b6044a540f0b6cb77774c78e474ad9dbe147	Isolation and purification of ceruloplasmin in oculocutaneous @PHENOTYPICFEATURE$, Menkes' disease, @DISEASE$ and pregnant women.	false
+3462ab669da407a57ed47da569b15be74f2a2237	Small fiber @PHENOTYPICFEATURE$ in @DISEASE$: an in vivo documentation by corneal confocal microscopy.	false
+37321afce37852292c6c4c014995fd7c3a0132cc	A case report: Co-occurrence of @DISEASE$ and oculocutaneous @PHENOTYPICFEATURE$ in a Chinese patient.	false
+fef1f61e3bb8b601f00a2f8cc103adbd44ed40e7	It was applied to serum of patients with oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, Menkes' disease and pregnant women.	false
+3b23fb072efd2d0afac61a98543aea52bee9dc76	@DISEASE$ (WD) has neuro-anatomical, pathophysiological and neurochemical basis for @PHENOTYPICFEATURE$.	false
+f462f71fd0cc0932bc74c3ed41dbfd931f653514	@DISEASE$ (19.64%), oculocutaneous @PHENOTYPICFEATURE$ (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities.	false
+fb8109d9c6c314d0d913e6beaf4942394947d615	Both @DISEASE$ (WD) and Oculocutaneous @PHENOTYPICFEATURE$ (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively.	false
+24a7b8bcc45f944278918cf3521cd9db7bfa2ce5	Copper deficiency in @DISEASE$: @PHENOTYPICFEATURE$ and myelodysplastic syndrome complicating zinc treatment.	false
+9291a1e71da94f9c70ad72290f3159f494613dc4	Other problems are seen with @DISEASE$, hyperlipidemia, and @PHENOTYPICFEATURE$.	false
+0175d3557f39b713066fdb47645900760796662a	Among the many possible clinical features are @DISEASE$ (PCP), cytomegalovirus infection, failure to thrive, @PHENOTYPICFEATURE$, recurrent bacterial infection, thrush, lymphoid interstitial pneumonitis, lymphadenopathy, pancreatis, hepatitis, anemia, and thrombocytopenia.	false
+f00fff1b36e2bedbb27aa1e18f010c7bbb5d6447	The risk of death declined over time when the initial AIDS-defining illness was @DISEASE$ only [adjusted hazard ratio (AHR) = 0.91, P < 0.0005]; other opportunistic infections (AHR, 0.88; P < 0.0005); Kaposi's sarcoma only (AHR, 0.92; P = 0.025); and central nervous system conditions (HIV @PHENOTYPICFEATURE$, cryptococcosis, toxoplasmosis) (AHR, 0.92; P = 0.012).	false
+0d9c4bfb415a1a26cdc972d3d97fa55a764a9ca2	The relevance of the @PHENOTYPICFEATURE$ data for interpreting the locomotor response of animals treated with @DISEASE$ is also discussed.	false
+787c4698057180884f046788af55ba6f59c6bb4b	Annual incidence in most of AIDS-defining diseases rose over the period 1988-1993, although the proportion of cases in which the respective conditions appeared as AIDS-diagnostic diseases exhibited declining trends (p < 0.05) in: invasive candidiasis, Herpes simplex virus infection, isosporidiasis, @DISEASE$, extrapulmonary tuberculosis, Salmonella (non-typhoid) septicemia, HIV @PHENOTYPICFEATURE$ and wasting syndrome.	false
+bf63f8d60af1efd9bed617410d6bf7a3947386f0	The novel competitive N-methyl-D-aspartate (NMDA) receptor antagonist DL-(E)-2-amino-4-methyl-5-phosphono-3-pentenoic acid (CGP 37849) was found to produce a phencyclidine (@DISEASE$)-like behavioral syndrome (@PHENOTYPICFEATURE$, locomotion, stereotypies) in amygdala-kindled rats, whereas the amphetamine-like behavioral alterations of the syndrome (locomotion, stereotypies) were only infrequently seen in nonkindled rats.	false
+72e27906e505907ca136606e980107884c375897	We present a six-month old girl with postnatally acquired HIV infection complicated by @DISEASE$ j?roveci pneumonia, cytomegalovirus pneumonitis and @PHENOTYPICFEATURE$.	false
+7d18622bbf0e900ac68318251c212cf4b9df8b6a	We describe a case of refractory hypoglycaemia complicated by @PHENOTYPICFEATURE$ associated with co-trimoxazole for the treatment of @DISEASE$ in a patient with AIDS.	false
+10734a6ce89589589833e22754108c9decaf7c8d	We report the case of an infant with human immunodeficiency virus-1 (HIV-1) infection, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+a23b1623bc1e3c9f6b380cff1518dd1bb79923ad	14 acute toxic effects (hypersensitivity to asparaginase, hyperlipidaemia, osteonecrosis, asparaginase-associated pancreatitis, arterial hypertension, posterior reversible encephalopathy syndrome, @PHENOTYPICFEATURE$, depressed level of consciousness, methotrexate-related stroke-like syndrome, peripheral neuropathy, high-dose methotrexate-related nephrotoxicity, sinusoidal obstructive syndrome, thromboembolism, and @DISEASE$) that are serious but too rare to be addressed comprehensively within any single group, or are deemed to need consensus definitions for reliable incidence comparisons, were selected for assessment.	false
+6970ecab3b66593e3fc2452d529f5312ad79c7bd	@DISEASE$ simulating retroperitoneal @PHENOTYPICFEATURE$.	false
+e4448e15fb0b87429cebf2d574d4ee7b9fc38efc	A @PHENOTYPICFEATURE$ @DISEASE$ was diagnosed prenatally at 35 weeks of gestation.	false
+773f9ff5d6c8039be59e19e53871d7ec518bc896	Complete and partial XYLT1 deletion in a patient with neonatal @PHENOTYPICFEATURE$ @DISEASE$.	false
+8e6d753c5995c1b63f32c861e4be2a3049ffe4e1	A tentative diagnosis of a nonlethal @PHENOTYPICFEATURE$ @DISEASE$ was made.	false
+f94d2f45dbd042dbf5a626aa9dab2deea8c907ef	This disease is a rare @DISEASE$ characterized by long trunk and @PHENOTYPICFEATURE$ and severe scoliosis.	false
+0d35f39a4e0e7b6d748e5f72d21b2560bf31d81f	Fibrochondrogenesis is a rare lethal @PHENOTYPICFEATURE$ @DISEASE$.	false
+0d35f39a4e0e7b6d748e5f72d21b2560bf31d81f	Fibrochondrogenesis is a rare lethal @PHENOTYPICFEATURE$ @DISEASE$.	false
+e7ad60ad02523699d0d5b408400ee090118b49e0	A collaborative approach to the diagnosis of a lethal @PHENOTYPICFEATURE$ @DISEASE$.	false
+1667490f874cc728d3d333e6b382e7ecbaddf256	Congenital macular colobomas and @PHENOTYPICFEATURE$ @DISEASE$.	false
+e9d1e63e9a949dc5a98db8c72e7d88cc5e5184e5	Fibrochondrogenesis is a distinct, neonatally lethal, @PHENOTYPICFEATURE$ @DISEASE$ which was first described in a single patient in 1978.	false
+428ec106db8d9b4e8782c992020a1cd5aa202072	Spondylo-meta-epiphyseal dysplasia (SMED), @PHENOTYPICFEATURE$-hand type: a congenital familial @DISEASE$ with distinctive features and histopathology.	false
+1d89b71a41bcae2ce642dc0f03ec0fe23ce68362	@DISEASE$ is characterized by complex and diverse phenotypes, such as hypotonia, seizures, @PHENOTYPICFEATURE$, developmental delays and myoclonic jerks that may lead to apnea and even death.	false
+b1ed627c8f52dafad7babdb764e2fb03f4693dae	Atypical @DISEASE$ is characterized by heterogeneous phenotypes that often include nonspecific behavioral problems, @PHENOTYPICFEATURE$, and developmental delays.	false
+367e42b8e35dc0ada45aa396845750ccc9fc80f5	Most sources recommend a moderately increased dose guided by therapeutic drug monitoring.A 14 year old boy with @DISEASE$, a rare inborn error of metabolism, characterized by high levels of glycine, epilepsy, spasticity, and @PHENOTYPICFEATURE$, was admitted to the emergency department with respiratory failure after a few days of fever and cough.	false
+efdc5b890c33cb40e8310cc248b9b5a6408a4c5d	variants in a Japanese patient who had hyperlactacidemia, @PHENOTYPICFEATURE$, @DISEASE$, developmental delay, undescended testicle, and left ventricular noncompaction.	false
+ac45746c0fb14f151e7a98da5f6cc36c6dcb7947	variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, @DISEASE$, developmental delay, undescended testicle, and @PHENOTYPICFEATURE$.	false
+de133897b55caaaffefe95c529173a3ad68cf69d	@DISEASE$: Another COL2A1-Related @PHENOTYPICFEATURE$?	false
+9892aebfbeec2a4599c2f3c80c4035260240bbd2	Two women with @DISEASE$, aged 63 and 45 years, presented with different symptoms: the first patient had peripheral oedema, proteinuria, progressive fatigue and cyanosis and the other had increasing @PHENOTYPICFEATURE$ and blue lips.	false
+bdb2c3c912de3fc7132c39e28545501096f94541	We report two new cases of Rothmund-Thomson syndrome which emphasize the less well-known non-dermatological complications, namely: @DISEASE$, soft tissue contractures, @PHENOTYPICFEATURE$, hypogonadism, anaemia and osteogenic sarcoma.	false
+1bbe3b08ddf80f5a93bec639269ccb65fa771022	All patients exhibited multiple features including @DISEASE$, dysplastic teeth, extra frenula, mild short stature, distal @PHENOTYPICFEATURE$, postaxial polydactyly of hands and feet, nail dystrophy, and knee joint abnormalities.	false
+86c76722fc19dea8d9eb3fb07ef1e2c645deba4f	The main features include palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, facial dysmorphism, clinodactyly, epilepsy, deafness, and @DISEASE$.	false
+d4df47b66293fa7fd38c5407ba4ac863a869f65c	The clinical and radiological evaluations determined, @DISEASE$ or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, @PHENOTYPICFEATURE$, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study.	false
+b4e10bb26cecf3b3f2a5e75e4aeab827555d0121	IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear @PHENOTYPICFEATURE$, alopecia, @DISEASE$, and immunodeficiency.	false
+f26ad860d1099515e2245e76342eee0501027241	Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, @PHENOTYPICFEATURE$, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, @DISEASE$, and malocclusion.	false
+4a4818a0a8965e9839d02d3a0dac442f5a011673	The clinical features including @PHENOTYPICFEATURE$, osteopenia with fracturing and breaking of bones, @DISEASE$, hypertrophic and convex shaped nails, night blindness, watering eyes and infection of ears were observed in affected individuals of the family.	false
+e99ba4f08e8eed70c81f04873752581021d33e98	@DISEASE$ is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, @PHENOTYPICFEATURE$, or vascular hyperreactivity.	false
+5725bff9dbe72c2da1a02a45ec6705365f81f1cc	The notion of a larger benign notochordal cell tumor that is macroscopic, occasionally symptomatic, and seen radiologically was recently introduced, and described as giant vertebral notochordal rest, giant notochordal @PHENOTYPICFEATURE$ of intraosseous origin, and benign @DISEASE$ .	false
+bd62c131651811fb3612c64a1071c7a439ad52d8	Giant notochordal @PHENOTYPICFEATURE$ of intraosseous origin: a newly reported benign entity to be distinguished from @DISEASE$.	false
+787c37f5be589dfaca2e16354365cda31bb001bf	Hyponatremic @PHENOTYPICFEATURE$ and a mild headache prompted early neuroimaging, which disclosed an enlarged nonhemorrhagic pituitary gland with subsequent involution consistent with pituitary apoplexy (@DISEASE$).	false
+7bd8647f7274d758de5945a105e7e6fb98cf92c4	We have described female newborn with pulmonary hypoplasia, distal @PHENOTYPICFEATURE$ and facial characteristics of Pena @DISEASE$.	false
+f7652be612476793fbd13b407505e0747b966079	The @PHENOTYPICFEATURE$ is a @DISEASE$ characterized by the presence of abnormal trabeculations in the left ventricle.	false
+9c8e225f1ea235fe99948925f290d489ed16c8a0	Noonan's syndrome is a clinical entity associating short stature, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+df70dd34843b26a646822cb6a4b27a135560f7d0	Noonan's syndrome is a clinical entity associating @PHENOTYPICFEATURE$, facial dysmorphy and @DISEASE$.	false
+4a50b1e6378cd5e6f4cc59ee644e0874497b1da3	Noncompaction cardiomyopathy is a recently described rare @DISEASE$; patients can be asymptomatic or develop diastolic and/or systolic left ventricular dysfunction with heart failure, systemic emboli or @PHENOTYPICFEATURE$.	false
+16dcf3975603207cd40e8ea24a88c5edc9dbd596	We describe a patient with @PHENOTYPICFEATURE$, dysmorphic features, developmental delay, and @DISEASE$.	false
+b0728dd5013684661c8fbca35891489c5c634bbf	We describe a newborn infant with del(1)(q) syndrome, presenting with rare @DISEASE$ and left ventricular noncompaction myocardium (LVNC), as well as typical clinical features such as @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+1f56941ea5f661dbb4c81f4c9c2b03225b25d3c1	We describe a newborn infant with del(1)(q) syndrome, presenting with rare @DISEASE$ and @PHENOTYPICFEATURE$ myocardium (LVNC), as well as typical clinical features such as facial dysmorphism and psychomotor retardation.	false
+47aee48e09b29046ec2a615fc9eec57813e3adea	We present a case of isolated @PHENOTYPICFEATURE$ (LVNC), a severe @DISEASE$, which presented in the neonatal period as fetal hydrops.	false
+31e66fdcb2232e780511ef9ff0f7d163462bcc19	The paper describes a clinical case of @DISEASE$ (@PHENOTYPICFEATURE$) concurrent with secondary amyloidosis and renal involvement that develops at the outcome of long existing brochoectatic disease.	false
+807f4bb3ef53eaba3368c4be4209bf216e83635b	Isolated @PHENOTYPICFEATURE$ is a rare @DISEASE$, characterized morphologically by a dilated left ventricle, prominent trabeculations and deep intertrabecular recesses in the ventricular myocardium, with no other structural heart disease.	false
+0ba3b322e3bdda21bba38f551055bbb4bc08d549	@DISEASE$ should be included in the differential diagnosis of infants with cutaneous @PHENOTYPICFEATURE$ fibrotic lesions to avoid functional and aesthetic sequelae and to allow prompt therapy.	false
+0ae94e8059e4767da51415351ef571b7d8a42e3e	These features include pruritus associated with high concentrations of cutaneous neurofibromas, hyperpigmentation overlying plexiform neurofibromas, two levels of hyperpigmentation in some CLS, @PHENOTYPICFEATURE$ in surgical scars through @DISEASE$, and areolar neurofibromas in postpubertal females.	false
+03fc274af206171b7d49654fcf5a20174826dcc5	These features include pruritus associated with high concentrations of cutaneous neurofibromas, hyperpigmentation overlying plexiform neurofibromas, two levels of hyperpigmentation in some @DISEASE$, @PHENOTYPICFEATURE$ in surgical scars through CLS, and areolar neurofibromas in postpubertal females.	false
+48e3286d31f5788e4dbc4d3a805ecff0b059a252	Paclitaxel also causes @PHENOTYPICFEATURE$, while docetaxel can cause unpredictable and severe skin toxicity, as well as edema and effusions due to a @DISEASE$.	false
+f7219d8781104ed8a04426aee5ccf61881c31524	Classic clinical presentations included hand and foot @PHENOTYPICFEATURE$ and dysesthesias; atypical presentations included facial involvement, hyperpigmentation, dermatomyositis-like, and erythroderma associated with @DISEASE$.	false
+239f77c639e78512aee40b3ca738481eb2f9d5f2	At the first dose level of 150 mg/m2 paclitaxel by 3 h infusion, four of five patients developed dose-limiting toxicity consisting of diffuse skin @PHENOTYPICFEATURE$ and @DISEASE$.	false
+87ac8a1bd4affd851eecfe84e3a86603dcc1c5cf	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, @PHENOTYPICFEATURE$, seizures and a dysmorphic face.	false
+7239a20355a2ca684864664747c01f8521ac474a	@DISEASE$ is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild @PHENOTYPICFEATURE$.	false
+8b47083d64c60cebc1bccd8c6d36bb5f542aca61	@DISEASE$ (SYNS) is an autosomal dominant skeletal disorder characterized by @PHENOTYPICFEATURE$, progressive fusion of multiple joints, and conductive hearing loss.	false
+c86b623da7c177b060f1d587235793415731e041	Dysfunction of these integral membrane proteins has been implicated in @DISEASE$, congenital hypothyroidism, Bartter's syndrome, epilepsy, depression, @PHENOTYPICFEATURE$ and obsessive-compulsive disorder.	false
+50f159ee575accbee40446bc767997db51d6e1a8	A total of 10 patients underwent TES (2000-2016) for primary (osteosarcoma, chondrosarcoma, @PHENOTYPICFEATURE$ and @DISEASE$) and secondary spinal tumours (lung, breast, thyroid, oesophagus, and meningioma metastases).	false
+d3bad390b350b5c2b1afe3f5482e5801b7e1d9ac	In agreement with previous studies, GABA(A) receptor-mediated inhibitory gain-of-function may be a common feature in models of @PHENOTYPICFEATURE$, and could be of pathological importance in patients with @DISEASE$.	false
+d33e9e1f2f75aa9a22849d72e52ea3b479aa211f	Using the whole-cell patch clamp technique we examined 'phasic' and 'tonic' GABA(A) inhibition in thalamocortical neurons of somatosensory (ventrobasal, VB) thalamus, nucleus reticularis thalami (NRT) neurons, and layer 5/6 pyramidal neurons of the somatosensory (barrel) cortex of succinic semialdehyde dehydrogenase (SSADH) knock-out (SSADH(-/-)) mice that replicate human @DISEASE$ and exhibit @PHENOTYPICFEATURE$.	false
+cd60d31ac288030582589009a70a64745f531d90	@DISEASE$, "ground base disease", requires investigation for possible underlying immunity abnormalities or @PHENOTYPICFEATURE$.	false
+beebec164a71dfc5d79c9a2e629bf69037dc813e	First, the association of malignancy with certain rheumatic syndromes was convincingly established, such as asymmetric polyarthritis presenting in the elderly with an explosive onset, rheumatoid arthritis with monoclonal gammopathy, Sj?gren's syndrome with monoclonality, hypertrophic osteoarthropathy, dermatomyositis, polymyalgia rheumatica with atypical features, Lambert-Eaton myasthenic syndrome, palmar fasciitis and @PHENOTYPICFEATURE$, eosinophilic fasciitis poorly responsive to corticosteroid therapy, erythema nodosum lasting more than 6 months, and onset of Raynaud's phenomenon or @DISEASE$ after age 50 years.	false
+fcf72b282661d03cfdfaad1058f1f2dffb711532	The most frequent form of cutaneous vasculitis is @DISEASE$, a disease in which always an exogenous (drugs, infections) or an endogenous (malignant @PHENOTYPICFEATURE$, connective tissue disease) trigger should be sought if cutaneous vasculitis persists after removal or treatment of the suspected cause.	false
+1ea533cb6ee989e1a5080d2d32c869a6f0cf741b	The less common association of vasculitis and solid @PHENOTYPICFEATURE$ usually involves a @DISEASE$.	false
+74290852f3db24accf38a25ac8448d15f5aad099	@DISEASE$, one form of type IIa @PHENOTYPICFEATURE$, usually responds poorly to standard low-lipid diets.	false
+c7b040396bffb2ff9a84f53440b3a3848c65e96b	Some children with a @DISEASE$ @PHENOTYPICFEATURE$ may exhibit persistent low LDL levels.	false
+a01395982662b2bc61ca12ba6c4b675c574072d0	Nine families with autosomal dominant @PHENOTYPICFEATURE$ including @DISEASE$ and familial combined hyperlipidemia were detected by further family studies.	false
+a2558a5402116c39a81d8c33ed1c92d69ce7dc8c	A total of 17 children who had a cholesterol level of less than 1.53 MoM also had a @DISEASE$ @PHENOTYPICFEATURE$.	false
+ad5af6acbc8bdc58131df18c2eb70454016b691c	Coexistence of familial dysalbuminemic hyperthyroxinemia with @DISEASE$ and multiple lipoprotein type @PHENOTYPICFEATURE$.	false
+8eae49729a363924dbe609f7af2e79d4c6f7a6e6	Collectively, S-2E may be useful in the treatment of @DISEASE$ and mixed @PHENOTYPICFEATURE$.	false
+49bac3cd7f8f3cc451a9abdd45af988a90f7630d	@PHENOTYPICFEATURE$ and cardiovascular disease with focus on @DISEASE$.	false
+46ffd6d96938582e014aba2fb4c5f862bace0091	Well-defined monogenic syndromes were uncommon: @DISEASE$ being 3% and familial type III @PHENOTYPICFEATURE$, 3%.	false
+e54d4072f98150a870d3eeafd141a8d5894d4828	Key search terms included "pediatric dyslipidemia/@PHENOTYPICFEATURE$," "cardiovascular disease," "atherosclerosis," "@DISEASE$," "hypertriglyceridemia," and "diabetes."	false
+24a4c3c8d9c657dfb62642d233c80fdababc7c27	Patients were subdivided into patients with normolipidemia, @PHENOTYPICFEATURE$ or @DISEASE$ (FH).	false
+6bc102822e0bebe59923234a26eea05398c9f979	Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and @DISEASE$ and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome are classified in sporadic group.	false
+edeaf32f4b2b0ab8cd5c45f2b4ac556a2fa0472d	@DISEASE$ is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, @PHENOTYPICFEATURE$, and intellectual disability.	false
+8768c2bc3c6bb19a51c1b7b9c200cb91f3ec7e21	We report a child with @DISEASE$, which is a very rare, genetically transmitted clinical entity associated with mental and @PHENOTYPICFEATURE$, severe cutis laxa, joint laxity and various ocular and skeletal system findings.	false
+20c8d93dce4461ee9a7ed0fa6552ec99b8edd1df	@DISEASE$ is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, @PHENOTYPICFEATURE$, mental retardation, and characteristic facies.	false
+700aab2592da0ee62d5e4a85a64277cb12b81fb9	@DISEASE$ is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, @PHENOTYPICFEATURE$, mental retardation and athetoid movements.	false
+539ecbd987574f7c2d7181226a8ef4b072544f2f	An 11-year-old boy had @DISEASE$ with profound @PHENOTYPICFEATURE$, but without the associated clinical characteristics of the disease.	false
+2a546b5587363ace38451aff5a67da763929eec6	@DISEASE$ or @PHENOTYPICFEATURE$.	false
+830cc7b1a7f1cb9148503e9bdea559e41d789bfe	Coexistence of @DISEASE$ and internal @PHENOTYPICFEATURE$ produced by a cerebellar tumor.	false
+7562980454d6f8396e8076f9c7e2a757584ca763	[@DISEASE$ and @PHENOTYPICFEATURE$ imitating this syndrome].	false
+4b44e494a74de816d5bec6d5b98a7fe5327f1231	[Differential diagnosis of @PHENOTYPICFEATURE$ and @DISEASE$].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+df3c2cbc056fc087af70f6f01bfcb81f6d627979	@DISEASE$ patient who exhibited @PHENOTYPICFEATURE$.	false
+987fc6d26c59d829702c820e5056547a16cc8eea	Numerous biological and lifestyle factors can contribute to the development of resistant hypertension: medications, volume overload, @PHENOTYPICFEATURE$, diabetes mellitus, older age, renal parenchymal and renovascular disease, primary aldosteronism, obstructive sleep apnea, pheochormocytoma, @DISEASE$, thyroid diseases, aortic coarctation.	false
+0d0abf1a361ee8b66753684a3c818d5c47c6b06b	Numerous biological and lifestyle factors can contribute to the development of resistant hypertension: medications, volume overload, obesity, diabetes mellitus, older age, renal parenchymal and renovascular disease, primary aldosteronism, @PHENOTYPICFEATURE$, pheochormocytoma, @DISEASE$, thyroid diseases, aortic coarctation.	false
+e16fb07676be9beffb666da8c6db95b1b5a0fe55	@DISEASE$: a model for sarcopenic @PHENOTYPICFEATURE$.	false
+515dbc7c7538274bbdcbcbdbfbfff19348ee1844	Adrenocortical function in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c3afb3cb33f335719f5aa84dbf98c071d288db23	A case of primary aldosteronism associated with @PHENOTYPICFEATURE$ and preclinical @DISEASE$.	false
+256d9ebe7bfb0903cdb3cc6401def9152434dbeb	The common causes of secondary hypertension include renal parenchymal disease, @PHENOTYPICFEATURE$, primary aldosteronism, phaeochromocytoma, and @DISEASE$.	false
+a2142889ab46aa63d6dcaca67cb4914c63bdd38d	Patients suffering from diabetes, @DISEASE$, @PHENOTYPICFEATURE$, Klinefelter's syndrome or motor neuron diseases, such as amyotrophic lateral sclerosis for example are known to have impaired muscle property and reduced physical performance.	false
+9b7bf1cbb48560dba12d243d79f982e459a95872	Children with @DISEASE$ (CS), whether CS is iatrogenic or caused by endocrine tumors, have @PHENOTYPICFEATURE$ and suffer from excess adiposity and lower bone mineral density.	false
+93fcddbcb6219a4e9f846b24356ad1b84cdbb7fb	The frequent causes of secondary hypertension include renal parenchymal disease, @PHENOTYPICFEATURE$, primary hyperaldosteronism, phaeochromocytoma and @DISEASE$.	false
+a09c83980104c12a6cd021b9dae3394b4429741e	Common metabolic conditions include hyponatremia, hypercalcemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7d9ee9e2a77f06a94815b33c5e22492cfe1f0600	Cushing's disease (CD) is the most common cause of endogenous @DISEASE$ in children and adolescents and represents a rare cause of @PHENOTYPICFEATURE$.	false
+e216d562556bb3bad71be848fc68fa1379c2298d	[@DISEASE$, pituitary radiotherapy and late unilateral @PHENOTYPICFEATURE$].	false
+cf84f24627c2cf7ff14d138f36ef0c0cff25138e	@PHENOTYPICFEATURE$ as the only clinical sign of @DISEASE$.	false
+6e0425d2a3cd2d4db046a20c83e3caee6a32f21b	@DISEASE$, @PHENOTYPICFEATURE$, hypercalcemia, polycythemia and gynecomastia have been produced by a wide variety of tumours.	false
+180e1536da7b2fa1b79e4cbd406c78646c9e70ce	These include @PHENOTYPICFEATURE$, chronic infectious bronchitis resulting from cystic fibrosis, ciliary dysfunction syndrome, and immunodeficiency syndromes, upper airway obstruction, pertussis syndrome, psychogenic coughs, bronchiolitis obliterans, @DISEASE$, and vasculitides.	false
+2dba27a539ee9478ea676ede9da2290b8ac21025	Surgical management of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+3dd1b9d63fcc451ae19256d99bcba5057746b24a	@DISEASE$ (HTX) is a constellation of defects including abnormal organ lateralization and often including @PHENOTYPICFEATURE$.	false
+15c8a9799f2e2dde5ec2b105e3ddbe0025878822	@DISEASE$, including right isomerism and left isomerism, is characterized by an abnormal symmetry of the viscera and veins and is frequently associated with complex @PHENOTYPICFEATURE$.	false
+0b4da14da894cd0a7378f7ae1294c07032fc69ff	@DISEASE$ is a rare clinical entity in adults, characterized by situs ambiguus, @PHENOTYPICFEATURE$, and splenic malformations.	false
+cb42166656bec10e3a81b6885bad8b78ec8cb8f5	However, there is compelling evidence from vertebrate models and human birth defects to hypothesize that defects of the midline, isolated @PHENOTYPICFEATURE$, and @DISEASE$ are etiologically related.	false
+5e66d847bca05173dc4859bfe7de7fb5ce361b97	The purpose of the present report was to present a rare case of a brain abscess in a child with @DISEASE$, severe @PHENOTYPICFEATURE$, and extensive dental caries.	false
+e11ea12b74b78bd4b2b0d2d81bf8267723b1c4a1	@DISEASE$/ isomerism is characterized by an abnormal symmetry of the viscera that are normally dissimilar due to abnormal lateralization of thoracic and abdominal viscera and is frequently associated with complex @PHENOTYPICFEATURE$.	false
+bc7fb40e4c72bfa14da61fd0b49aa113c5fa9b2b	We thus aimed to identify GRK5 variants of functional significance by analysing 187 individuals with @DISEASE$ (heterotaxy) that were associated with a @PHENOTYPICFEATURE$ (CHD).	false
+39a61eabf372df67e6d92292a380b2176443e0e6	@DISEASE$ is usually detected in fetuses with the sonographic @PHENOTYPICFEATURE$.	false
+e57f2e5c3458b025056f847195409eab580a955b	A 3-month-old patient with @DISEASE$, complex intracardiac malformations, and severe @PHENOTYPICFEATURE$ underwent surgical correction.	false
+fa2261cb161bfe117ed13950d698b12d7c68ef66	[Simultaneous occurrence of Osler's disease, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+fed7c65876c18417e75b67680dbb2da21bd62f1a	A 23-year-old man presented with osteoporosis, revealed by femoral fractures, and a history of nephrolithiasis, short stature, metabolic acidosis, @PHENOTYPICFEATURE$ and @DISEASE$, a red blood cell abnormality common in malaria endemic regions.	false
+3c029666336e710d6b92aa3a0a137ae12c56d1ef	[Pathological picture of @PHENOTYPICFEATURE$ and telangiectasia hereditaria familiaris associated with @DISEASE$].	false
+2fc3b6477ab9f6b10f9513a69fe4bfd4ed36ac38	Various features: dystrophy of the thorax, micromelia, postaxial polydactyly, @DISEASE$, malformations of the great vessels, and polcystic kidney suggest the classification as short rib-@PHENOTYPICFEATURE$ syndrome, type Saldino-Noonan.	false
+cb6394708b0d3a0dc4c797958385755e7409390d	@DISEASE$ with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, brachydactyly, @PHENOTYPICFEATURE$ and mild osteoporosis.	false
+0bd9ce7de931de49fbe79394d2090aa7e5f34e74	Alternating Hemiplegia of Childhood (@DISEASE$), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders.	false
+c14b8653bfd8b7ebb905afdd2e768b0a4c00227a	In an 84-year-old woman with long-standing gait disturbance, dementia, Parkinson syndrome, @PHENOTYPICFEATURE$, ophthalmoparesis, tetraparesis, polyneuropathy, lactacidosis, polyarthralgia, dorsalgia, and osteoporosis, cardiac examination for long-standing anginal chest pain and palpitations, revealed supraventricular and monomorphic ventricular ectopic beats, hypertrophic signs, ST-depression and negative T waves on electrocardiogram (ECG), diastolic dysfunction with impaired relaxation, and @DISEASE$ on transthoracic echocardiography.	false
+15225e3d5c1e451027fcad9aa5429843acce9e14	Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (@DISEASE$), and cerebellar ataxia, pes cavus, optic atrophy, and @PHENOTYPICFEATURE$?(CAPOS), with recent descriptions of overlapping phenotypes.	false
+c67b0b8d39ab0b018b2037528d482b840bbcb919	Alternating hemiplegia of childhood (@DISEASE$) is a rare disease of unknown etiology characterized by early onset of recurrent episodes of hemiplegia, tonic or dystonic attacks and @PHENOTYPICFEATURE$ with a fatal outcome to severe encephalopathy.	false
+5fd4fdc3c6aeba2ebddb32153b8a18f55bb82b8a	Alternating hemiplegia in childhood (@DISEASE$) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and @PHENOTYPICFEATURE$.	false
+596ac84cc46c0bc78b41e5a3a94b4194d94dd19c	In Tunisia during an epidemic in 1972 to 1973 we studied 25 cases of @DISEASE$, which were characterized by explosive onset of lid edema, chemosis, conjunctival hemorrhages, follicular hypertrophy, and epithelial @PHENOTYPICFEATURE$.	false
+a6b5fd3d9efbd036a3ec26a3b97134083a695594	ATP1A3-related disorders include rapid-onset dystonia-parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (@DISEASE$), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and @PHENOTYPICFEATURE$).	false
+a2f73623e125f0c871b5698c06f7abe498e6a60a	Alternating hemiplegia of childhood (@DISEASE$) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, @PHENOTYPICFEATURE$, and progressive developmental delay.	false
+f3a64265cc55cb5e83735f84094bd4cdd7c1fbe2	Initial symptoms of @DISEASE$ are not alternating hemiplegic episodes, but rather asymmetric @PHENOTYPICFEATURE$, dystonic posture, or seizures.	false
+284b5b5bede4df38f66de0f4b9dec557b8b727de	Neither child had hypotonia, dystonic attacks, paroxysmal @PHENOTYPICFEATURE$, or other features characteristic of the now-classic form of alternating hemiplegia of childhood (@DISEASE$).	false
+ec5ea979d5ed6020e5f9f3a2aa9fad21eefafe4d	@PHENOTYPICFEATURE$ in @DISEASE$ (IOSCA).	false
+faa7ca432ee07c7015585fdd80e65c1f665b95b5	Twenty-nine percent (8) of the eyes in the primary group had a diagnosis of chemical or thermal injuries, 25% (7) aniridia, 18% (5) autoimmune disease, 4% (1) infectious keratitis/neurotrophic cornea, 7% (2) gelatinous corneal dystrophy, 7% (2) @PHENOTYPICFEATURE$ ectodermal dysplasia/@DISEASE$, and 11% (3) uveitis/hypotony.	false
+48af4293cc8829df242b50f8e26d4a1e9e0c6b02	@PHENOTYPICFEATURE$-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corneal keratinocyte loss, @DISEASE$ (LSCD), and eventually blindness.	false
+95a05afcc2699937b3a99966c05b917898a0ce9d	Slit lamp examination revealed bilateral central guttae consistent with @DISEASE$, peripheral circular band-like @PHENOTYPICFEATURE$ in the deep stroma, and bilateral nuclear sclerotic and cortical cataracts.	false
+d83b77f30286012a1e6349ec71e1088dde62475c	Mutations in LOXHD1, a recessive-@PHENOTYPICFEATURE$ locus, cause dominant late-onset @DISEASE$.	false
+590351453d55d20dfe6cabdcb24b6d1cfb0673a2	Two patients with @DISEASE$ were noted to have anterior @PHENOTYPICFEATURE$ and corneal decompensation before DSAEK.	false
+61fce97ca2b223d0e83ca8804134018d09b85ec1	Mutations in the SLC4A11 gene, which encodes a plasma membrane borate transporter, cause recessive congenital hereditary endothelial corneal dystrophy type 2 (CHED2), corneal dystrophy and perceptive @PHENOTYPICFEATURE$ (Harboyan syndrome), and dominant late-onset Fuchs endothelial corneal dystrophy (@DISEASE$).	false
+081be92d8224bbdd339c7cd69b22498fd318cdd5	Mutations in the SLC4A11 gene, which encodes a plasma membrane borate transporter, cause recessive congenital hereditary endothelial corneal dystrophy type 2 (CHED2), corneal dystrophy and perceptive @PHENOTYPICFEATURE$ (Harboyan syndrome), and dominant late-onset @DISEASE$ (FECD).	false
+93700911dee2c7716244143d84f856911646f78f	The mean age of patients was 33.1???10.13?years; indications for PK were herpetic corneal scar (53.3%), corneal stromal dystrophy (23.3%), traumatic corneal opacity (10%), chemical @PHENOTYPICFEATURE$ (6.7%), and @DISEASE$ (6.7%).	false
+81672881c28a31ef7e5cb2756e5e202b81216c8f	The mean age of patients was 33.1???10.13?years; indications for PK were herpetic corneal scar (53.3%), corneal stromal dystrophy (23.3%), traumatic @PHENOTYPICFEATURE$ (10%), chemical corneal opacity (6.7%), and @DISEASE$ (6.7%).	false
+da1a5f0177a6b12615b1ac5c53c59acd0e958dc1	CT scan and MRI reveal @DISEASE$ and progressive @PHENOTYPICFEATURE$.	false
+90e966996fbc732c7002412bf930e460cfd2f7f2	The patient presented psychomotor regression, late-onset @DISEASE$, peripheral neuropathy, hearing impairment, a @PHENOTYPICFEATURE$, and renal hypertension and survived until the age of 36.	false
+7fe295626eed0b08e9f602a40d47cb960f4305c9	Aicardi-Gouti?res syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, @DISEASE$, @PHENOTYPICFEATURE$, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid.	false
+b08b2770f3454149b936de3bf54decac75b908ac	In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7328f9b02c18761c8b577964239ee5b0b660ad3e	Radiographic examinations showed @PHENOTYPICFEATURE$ and, in one, changes on computerized tomography suggesting @DISEASE$.	false
+6fd00e2b380910fdcfce4bb94ffbcf96b9f3cb96	4H @DISEASE$ is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other @PHENOTYPICFEATURE$) and hypogonadotropic hypogonadism.	false
+07c4ecfffdd71605b2881ed96f5b66cdc2b657e2	4H leukodystrophy is an autosomal recessive RNA polymerase III-related @DISEASE$, characterized by hypomyelination, with or without hypodontia (or other @PHENOTYPICFEATURE$) and hypogonadotropic hypogonadism.	false
+700f92b6d99eae504b6b158c57942cc144dc7eba	Aicardi-Gouti?res syndrome (AGS) is an autosomal recessive encephalopathy characterized by acquired microcephaly, cerebral calcifications, @DISEASE$, @PHENOTYPICFEATURE$ and cerebrospinal fluid findings of chronic lymphocytosis and raised interferon-alpha (INF-alpha).	false
+b7f865cec928f5942aac537b3fd7ada7ca2e61d9	Imaging findings included basal ganglia calcifications, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dd63be5dece26a861d4ad515c93d32e2e104b9d6	Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral @DISEASE$, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and @PHENOTYPICFEATURE$.	false
+298d30b312ccac19297f457854b08202bc977632	During acute infections high titers of Anti-F were associated with elevated titers of cold-active hemagglutinin (@DISEASE$) and immunoconglutinin (IK) and all were associated with @PHENOTYPICFEATURE$ and elevated parasitemia.	false
+a31c779205a3cfbcbe6632882161ca630e34b7e9	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (alpha-1 antitrypsin deficiency), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of @DISEASE$), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	false
+3297c47fbe6fd24bcb5c2bcdf490e306dccc738f	Cardiac evaluation of paediatric patients with @DISEASE$ showed no signs of @PHENOTYPICFEATURE$ or ventricular dilatation.	false
+2a95bdabe9446131c92b811392955dc6079db1e5	HE4 tissue expression in borderline @PHENOTYPICFEATURE$: a pilot study by the tumorbank @DISEASE$ network.	false
+0320cd66aa1a56b6164075a14a0b283c177bab77	Although taxol has shown significant activity in advanced @DISEASE$, @PHENOTYPICFEATURE$ is likely to become the major dose-limiting toxicity.	false
+daaafec8408136fcabd1e1313989be6d9fbc1edc	@DISEASE$ and lower limb @PHENOTYPICFEATURE$.	false
+ad63e190bc771a34785c1072d66e566a373ed7b6	@PHENOTYPICFEATURE$ due to biweekly paclitaxel, epirubicin and cisplatin in patients with advanced @DISEASE$.	false
+a936026077b50c16134902cdc7a5c8e6acee19d4	@PHENOTYPICFEATURE$, distress, and quality of life in @DISEASE$ patients during the first year after diagnosis.	false
+065abf28ba75a5a8984c9fc1b0c200e43029e493	@PHENOTYPICFEATURE$, cytokines, and fatigue in women with @DISEASE$.	false
+fe79fe1a2966e290be2cb12b7c4ee54b751c696c	Pilot randomized controlled trial of auricular point acupressure for @PHENOTYPICFEATURE$ in women with @DISEASE$.	false
+0a93f1b92b67caddbbf928d9f8b9c33c5fa207f2	Psychometric evaluation of two scales assessing functional status and @PHENOTYPICFEATURE$ associated with chemotherapy for @DISEASE$: a gynecologic oncology group study.	false
+902c3463be725355c74408e386e76856ae9fbb25	@DISEASE$ survivors who were meeting physical activity guidelines reported more favorable outcomes of fatigue, @PHENOTYPICFEATURE$, sleep, and psychosocial functioning.	false
+6c51797fc864a5fad8c8a2d191218250ce5ee590	This prospective longitudinal study examined rates of sleep disturbance; contributions of depression, anxiety, and medication use in @PHENOTYPICFEATURE$; and associations between sleep quality and quality of life (QOL) during the first year after diagnosis among women with @DISEASE$.	false
+aaf750b6801befff7c906b709bf0764792ee5701	This prospective longitudinal study examined rates of @PHENOTYPICFEATURE$; contributions of depression, anxiety, and medication use in sleep disturbance; and associations between sleep quality and quality of life (QOL) during the first year after diagnosis among women with @DISEASE$.	false
+303f8bb0f121830bd2aee71f44f919dfc267da1f	Inactivating mutations in CaSR cause familial hypocalciuric hypercalcemia type 1(FHH1)and neonatal severe @PHENOTYPICFEATURE$(NSHPT), while activating mutations lead to @DISEASE$(ADH1)and Bartter syndrome type ?.	false
+31066e3d4d2720da68256d8549f57873c2ad5f7f	@DISEASE$ patients consistently report lower @PHENOTYPICFEATURE$, which may be part of the spectrum of GERD symptoms.	false
+e1928aa67c92bccf325c32bd9dc66cc19459b3ea	The patient is a 22-year-old female with advanced HIV disease complicated by tonic-clonic seizures, @PHENOTYPICFEATURE$, gastroesophageal reflux disease (@DISEASE$), and gastritis.	false
+bb374bd69ad4986555c92b8d360b90934fced9e3	As weight increased so did the prevalence of diabetes mellitus, hypertension, @PHENOTYPICFEATURE$, diverticular disease, dyspepsia/@DISEASE$ (GERD), alcohol issues, asthma, depression, coronary artery disease, and eczematous dermatitis.	false
+7ace9e72cb5085de3ee9d185ea9ca8bc5fe9a8c8	Netherton's syndrome is a rare symptom complex characterized by greatly elevated IgE levels with atopic manifestations, an ichthyotic skin disorder (ichthyosis linearis circumflexa and/or @DISEASE$), and the characteristic @PHENOTYPICFEATURE$ trichorrhexis invaginata.	false
+77ebc5c0ae26c3d359d75bca6f1931c62975d261	We describe a 2-month-old female with @DISEASE$ and prolonged collodion membrane with two constrictive bands of the fingers causing significant erythema, @PHENOTYPICFEATURE$, and pain.	false
+c785ba6e045f74598fba004b79d4c45947a68deb	Systemic mast cell disease (@DISEASE$) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, @PHENOTYPICFEATURE$, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy.	false
+f42c95caac688ebf7b716af2de221f8ecc7a0e1f	Despite the widespread use of Chinese herbal medicine (@DISEASE$) for pediatric upper respiratory disease in Taiwan, there is little evidence for its effectiveness as an antipyretic or in aiding ulcer healing for children with viral @PHENOTYPICFEATURE$.	false
+48b42b019bba516232b8e3b994fea925a183efb8	We report two cases of children who presented with viral @PHENOTYPICFEATURE$ to illustrate the potential efficacy of @DISEASE$ treatment in recovery from herpangina (HA) and herpetic gingivostomatitis (HGS).	false
+1b9f50cdd132c6a541410abb040a712d3a9e6bce	10(-4) M cycloheximide (@DISEASE$) inhibits leucine incorporation to about the same degree in slices of human @PHENOTYPICFEATURE$, rat hepatomas, regenerating livers and normal tissues.	false
+c5c38ab4009f6726638dec8fe305ef0c94ac4f52	To our knowledge, this is the first report of @DISEASE$ treatment hastening the recovery from febrile disease with viral @PHENOTYPICFEATURE$ in Taiwan.	false
+183e76fdda2d53472e6a207fb9b145eb382716a0	The results of systematic evaluation and meta-analysis showed that @DISEASE$ was beneficial to patients with liver cancer in prolonging life expectancy, improving quality of life, reducing side effects of TACE such as @PHENOTYPICFEATURE$, fever, liver pain, and bone marrow suppression, improving liver function indexes and immunological indexes, and enhancing objective curative effect on the tumor size.	false
+42b3b04933c94042604f82ce17f50ba60d7e5c7b	@DISEASE$ provided immediate relief of indigestion, reflux, and @PHENOTYPICFEATURE$.	false
+9eede6796170d3a50f976b4c1c4029a989691247	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often respiratory failure.	false
+924ac757df41d28f03b2888afb7b477eeace0b78	@DISEASE$ is a progressive osteodystrophic disease of the osseous capsule of the labyrinth which leads to the fixation of the stapes and partial @PHENOTYPICFEATURE$.	false
+6d54ea171992fc85abf595c3d883dd2be12c64c0	@DISEASE$ and middle ear @PHENOTYPICFEATURE$.	false
+49467f1d9d0bca335fba31289847b660b5f2b385	@DISEASE$ is caused by an abnormal bone homeostasis of the otic capsule and represents a frequent cause of @PHENOTYPICFEATURE$.	false
+6054235550b84414b601e9dd6c816eae122f5395	@DISEASE$ is a common form of @PHENOTYPICFEATURE$ among Western-Eurasian adults.	false
+bcbf90c4463513b1ec31a72309e0f71aec34ba50	@DISEASE$ is a very common @PHENOTYPICFEATURE$ among Caucasians with a prevalence of about 0.3-0.4% among white adults.	false
+6376e96acf82fe0d3d5b16a56aa97549482a4108	@DISEASE$ is a common form of @PHENOTYPICFEATURE$ among white adults with a prevalence of 0.3-0.4%.	false
+94f8785f3b1ddafdf1e7e1fb4bff5eaeae02e4e7	@DISEASE$ is a common disorder of the otic capsule resulting in @PHENOTYPICFEATURE$ in 0.3-0.4% of the Caucasian population.	false
+2b6bed74f0df78794e3c52430f96a819e5e934b8	The aim of our study was to characterize the @PHENOTYPICFEATURE$ in a large multigenerational Greek family with autosomal dominant nonsyndromic @DISEASE$ and to perform genetic linkage analysis to known otosclerosis loci and collagen genes.	false
+7d791065a61cfb9cf720effc832a4346b873d0c5	[Development and results of stapes plastic surgery by means of connective tissue interposition in @DISEASE$ @PHENOTYPICFEATURE$].	false
+491270e476c86121cff27d489cb22d26f4a76c2b	Establishing the presence and the type of mental disorders in patients with hearing impairment due to @DISEASE$, before and 6 months after corrective surgery, as well as finding the role of adaptation style (personal adjustment) and facing strategy (communication strategies) as mediating variables between the acquired @PHENOTYPICFEATURE$ and observed psychical changes.	false
+6aa2ec9e840508c4f495b0f3aa833943ac63de80	Establishing the presence and the type of mental disorders in patients with @PHENOTYPICFEATURE$ due to @DISEASE$, before and 6 months after corrective surgery, as well as finding the role of adaptation style (personal adjustment) and facing strategy (communication strategies) as mediating variables between the acquired hearing impairment and observed psychical changes.	false
+6603173327b72927644cf06e76abbe4cff92a285	Lumboperitoneal shunt is easy and effective for treating intractable headaches and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+390441bcc5fef1956577a55f392d32f9dafd2276	Operation should be employed for @DISEASE$ patients with @PHENOTYPICFEATURE$ function or rapid progress, in order to reduce intracranial pressure and improve prognosis as soon as possible.	false
+6fcb3a36b97e66013d87373024b8f6911dec0a38	A restricted spectrum of mutations in the SMAD4 @PHENOTYPICFEATURE$-suppressor gene underlies @DISEASE$.	false
+0664746dd857e4184a516778e6a5538851904cb3	We propose that patients with @DISEASE$ are more susceptible to @PHENOTYPICFEATURE$, encourage increased awareness, and suggest enhanced clinical monitoring.	false
+c7f7f3d43e6c6c72497f337fcfd4ed72cd7faddf	Gain-of-function pathogenic variants in SMAD4 are associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b75e58abe4deed35dc858b890629f12436fd5d1f	Loss-of-function pathogenic variants in SMAD4 cause juvenile polyposis syndrome and we hypothesize that the gain-of-function pathogenic variants observed in @DISEASE$ may contribute to @PHENOTYPICFEATURE$ in the patients reported herein.	false
+9ce73142039ea0557efcb23a03543650dc27ace3	The frequency of @PHENOTYPICFEATURE$ (9.8%, 6/61) in this series (two new, four reported patients) and endometrial cancer (8.8%, 3/34, mean age 40?years) in patients with @DISEASE$, raises the possibility of cancer susceptibility in these patients.	false
+9856da8080d472cae518fcacd9837d696651c057	We describe six patients (two not previously reported) with molecularly confirmed @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a48ade097785069bb7bf3d8593a258717c8d75d8	Acute bilateral @PHENOTYPICFEATURE$ as the first symptom of @DISEASE$.	false
+4c5635723545dbd81593e6fecce79ef96e3cb4c7	Sequelae after spontaneous subarachnoid haemorrhage, with special reference to @PHENOTYPICFEATURE$ and @DISEASE$.	false
+65b657e9936ffd718f05b4a8dda697a0743ae2d7	This deficiency can cause @PHENOTYPICFEATURE$, peripheral neuropathy, Wernicke's encephalopathy, @DISEASE$ and gastrointestinal beriberi.	false
+9475a320bfa2482527d46de81ff32a1d6d0bbebd	However, several scenarios which may predispose to @DISEASE$ may be increasingly prevalent in children and adolescents such as malignancies, intensive care unit stays and surgical procedures for the treatment of @PHENOTYPICFEATURE$.	false
+94f84bdc9ce5a7a53d43e4cf299dde95b52fa3bb	Underlying diseases comprised cerebral infarction (n=10), multiple sclerosis (n=2), cerebral hemorrhage (n=1), @DISEASE$ (n=1), and @PHENOTYPICFEATURE$ (n=1).	false
+f9dfeb4eea591e2db9d74c625f89a201b49b3524	This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-H?nermann-Happle syndrome, oral-facial-digital syndrome type 1 and MIDAS (@PHENOTYPICFEATURE$, dermal aplasia and sclerocornea) syndrome, as well as in various X-linked non-lethal phenotypes, such as @DISEASE$ of Christ-Siemens-Touraine, IFAP (ichthyosis follicularis-alopecia-photophobia) syndrome and X-linked dyskeratosis congenita.	false
+b5396600d0f9535f2797a2f55f80f96c653107de	The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, @PHENOTYPICFEATURE$, craniofacial anomalies, and @DISEASE$.	false
+59ea5ced23ba47f9fe8a004d594a1d7687bf71da	The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, @PHENOTYPICFEATURE$, craniofacial anomalies, and @DISEASE$.	false
+2197019b7dad6b42df1b9e903973d68d53eda52c	Camurati-Engelmann's disease (@DISEASE$) is a rare hereditary disorder affecting mainly the diaphysis of long bones but multiple cranial nerve deficits may also develop secondary to bony sclerosis of their foramina, including @PHENOTYPICFEATURE$, facial palsy, deafness, vestibular disturbances and sensory deficits along the distribution of the trigeminal nerve.	false
+c0fcc557ee072e57b63783a34fad47feee8cc15d	Performing @PHENOTYPICFEATURE$ surgery before, after or in combination with vitrectomy did not make any significant difference with respect to final @DISEASE$, CCT or CV.	false
+1e5ac308b691ec5db41e7c851654f4d795c6736f	To assess the impact of sequential and combined surgery [@PHENOTYPICFEATURE$ surgery and 23-gauge pars plana vitrectomy (PPV) with peeling] on corneal endothelium cell density (@DISEASE$) and corneal biomechanical characteristics.	false
+2ec71507e1abee5a22f83a9c8c5cf623501e99cf	A case has been presented where uncomplicated intracapsular @PHENOTYPICFEATURE$ extraction and smooth implantation of a Copeland lens was followed by CME, later by @DISEASE$.	false
+9d672a37512bf5d5efcb36a9aa92d2bb589b185f	Gastrectomy for patients with @DISEASE$ and non-uremic @PHENOTYPICFEATURE$.	false
+245208e7f7d52f7ed151a95bf8cb7dcda8296c77	We conclude that weekly paclitaxel is a suitable treatment regimen for patients with @PHENOTYPICFEATURE$ requiring chemotherapy for advanced @DISEASE$.	false
+2ea2356c73acb87fe46afa7a77f1e59dd0efafb6	Among 54 patients, 5 patients were lost to follow up and 3 patients were dead of myocardial infarction, @PHENOTYPICFEATURE$ and @DISEASE$, respectively.	false
+4d6379aaaeb7a467dbe42619b22d5ae29aaefe5c	Causes of death were primary cancers of other organ in 11 patients, @DISEASE$ in 24, and @PHENOTYPICFEATURE$ in 1 patient.	false
+dc1e51ad18c3c91566996759a967a34b6f4f9da3	He died of obstructive jaundice and @PHENOTYPICFEATURE$ owing to massive metastases of @DISEASE$.	false
+ee58c6577d196b837711e596d33d8964092206aa	Shortly thereafter, he developed obstructive jaundice, pancreatitis, recurrence of @PHENOTYPICFEATURE$, and was diagnosed with advanced @DISEASE$ after a laparotomy revealed peritoneal carcinomatosis.	false
+bbcb0cb7403795a09108cfd71178794cdc8f2b6b	In spite of the availability of national gastric cancer screening program, we found significant disparities in @DISEASE$ screening participation, especially among people with severe disabilities and those with @PHENOTYPICFEATURE$ or brain-related/mental disabilities.	false
+d7ac1183f9581a665cc366a20214667f7a412bb7	In spite of the availability of national @DISEASE$ screening program, we found significant disparities in gastric cancer screening participation, especially among people with severe disabilities and those with @PHENOTYPICFEATURE$ or brain-related/mental disabilities.	false
+4c279783a2cb14d15386fdb8b9dec8862493639a	Germline E-cadherin/CDH1 mutations have been identified in families with an @PHENOTYPICFEATURE$ predisposition to diffuse @DISEASE$.	false
+7926080b44e116c5ff864121cf08122388f2dc3f	To investigate the safety and outcome of gastrectomy for patients with @DISEASE$ and non-uremic @PHENOTYPICFEATURE$ (NURF).	false
+768cc67988b5e9d8f41a69bf478a56c031548ef3	Participants with @PHENOTYPICFEATURE$, taking proton pump inhibitors, and those with advanced @DISEASE$ were excluded.	false
+a18739056c5c33a9b96c030caca789fc682b5c11	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-@DISEASE$ (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, @PHENOTYPICFEATURE$, proximal symphalangism, enamel hypoplasia, and loose skin.	false
+bf5a93f89bbd4f2c28235bca89a2374076bf20d5	Lenz-@DISEASE$ (LMS) is a syndrome of @PHENOTYPICFEATURE$ and multiple congenital anomalies that features generalized craniotubular hyperostosis.	false
+28876988d4fc7afb66949583a480f22cfac261f2	Lenz-@DISEASE$ (LMS) is an extremely rare syndrome characterized by osteosclerosis, @PHENOTYPICFEATURE$, characteristic facies and distinct craniofacial, dental, cutaneous and distal - limb anomalies.	false
+957b3ec691f96b3374f6ead97de7f0bcac7139ef	The microscopic differential diagnosis includes dermatofibroma, @PHENOTYPICFEATURE$, @DISEASE$, histiocytosis X, reticulohistiocytoma, juvenile xanthogranuloma, and leprosy.	false
+48f1228f5eae1a93b851ecb66ca0c21827ba97c7	The aims of this study were to investigate, in patients with newly diagnosed @DISEASE$ (SCLC), whether or not there may be a relationship between the presence, type or titer of circulating neuronal autoantibodies and (i) the extent of SCLC dissemination at presentation, (ii) the development of @PHENOTYPICFEATURE$ during platinum chemotherapy, (iii) survival time.	false
+91f1778ad167b41cbc30b72881f7ac89fd918f85	A prospective controlled clinical-neurophysiological-pathological study of 71 patients with @DISEASE$ revealed no increased incidence of @PHENOTYPICFEATURE$ at the initial stages of illness.	false
+0d18135da4c01115bdae3a847a1f663fba76501c	Eleven consecutive patients with @DISEASE$ treated intensively with a combination chemotherapy regimen cyclophosphamide, Adriamycin, VP-16, and vincristine experienced @PHENOTYPICFEATURE$.	false
+4fb1eb3f1387cf2078d47253f801ad32c8c25716	Six patients with @DISEASE$ developed a slowly progressive neurologic syndrome characterized by apathy, abulia, @PHENOTYPICFEATURE$, gait ataxia, and corticospinal tract signs 26 to 50 months (mean, 35.2 months) after prophylactic cranial irradiation and systemic chemotherapy.	false
+b43f2acfb9c381c4e4654f499c0dfbcc698575ae	A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and @PHENOTYPICFEATURE$ named Helsmoortel-Van der Aa Syndrome (@DISEASE$) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause.	false
+1f5fa4e4342e04cd9545aa57735c63d80a214a64	Encephalopathy with electrical status epilepticus during sleep or ESES is an age-dependent and self-limited syndrome whose distinctive features include a characteristic age of onset (with a peak around 4-5 years), heterogeneous seizures types (mostly partial motor or unilateral seizures during sleep and absences or falls while awake), a typical EEG pattern (with continuous and diffuse paroxysms occupying at least 85% of slow wave sleep) and a variable neuropsychological regression consisting of IQ decrease, reduction of language (as in acquired aphasia or @DISEASE$), disturbance of behaviour (psychotic states) and motor impairment (in the form of @PHENOTYPICFEATURE$, dyspraxia, dystonia or unilateral deficit).	false
+f1933acafacb8ed2e7bb95bd1a5c0ee95ba04dca	Progression of his symptoms to seizure and @PHENOTYPICFEATURE$, brain perfusion scan and electroencephalography features strongly suggested @DISEASE$.	false
+c42e4a9d7d006bec20fb22f71fbb05619ebe067a	@PHENOTYPICFEATURE$ and @DISEASE$ in an elderly patient with orbital lymphoma.	false
+7cc682f6dde576a3535233fea5a81f29490578c5	@DISEASE$ in BRCA2 breast @PHENOTYPICFEATURE$.	false
+2fd377d2fcf23a45c1fd9603dda6e1c48fbd688b	The average life span of ferrets is about 5-11 years with onset of geriatric diseases between 3-4 years including endocrinopathies, @PHENOTYPICFEATURE$, gastrointestinal diseases, cardiomyopathy, splenomegaly, renal diseases, @DISEASE$, and cataract.	false
+2c8ce5769a6ce2f1c4319b9467b5f5d466c0eedb	The most common causes are temporomandibular joint syndrome, pharyngitis, @DISEASE$, and cervical spine @PHENOTYPICFEATURE$.	false
+4fea2c0e80d081b729747f2b045a3f96d7f07ed3	Management priorities of captive lions should include prevention strategies for @DISEASE$ and trauma, frequent screening for renal disease and @PHENOTYPICFEATURE$, and further research into cardiovascular health.	false
+9c121c6b4d667fd878df8c783128deed7ce5cb5b	Factors associated with less extensive @DISEASE$ before RT included having at least a high school diploma, having dental insurance, history of routine dental care, and a smaller @PHENOTYPICFEATURE$ size (T1 or T2).	false
+00cfd09aeeab7de19c5b57bec00db655f3c011ea	Although the majority can be attributed to @DISEASE$ and a small percentage are due to autoimmune diseases, the eosinophilic granuloma complex, @PHENOTYPICFEATURE$, and other miscellaneous syndromes, many cases appear to be due to a gingivitis-stomatitis-pharyngitis complex, which is likely multifactorial in origin.	false
+7469e16f0cda5340eb5ec8fb97b8bec5fd1a39d6	All patients with proven @PHENOTYPICFEATURE$ invasion showed higher tracer uptake than those with normal mandible or other @DISEASE$.	false
+cfa1056ab75d4881755e63c2f256dc539b796cc6	These include foreign bodies, bacterial or fungal infections, oral-@DISEASE$ and @PHENOTYPICFEATURE$.	false
+775cb82916ffb93d17dbe68479e574aa381ad9d4	However, they are frequently subject to false-positive interpretive errors, especially due to increased osteoblastic activity associated with @DISEASE$ and occasional @PHENOTYPICFEATURE$ adjacent to the mandible.	false
+fbb90c667aa2a12907c4c2ed5b1b55870dde9f61	Dental cone beam computed tomography (CBCT) is a new approach in diagnosis and predication of various @DISEASE$, including trauma, congenital defects, @PHENOTYPICFEATURE$ and inflammatory.	false
+cb016341beda04716456059e9c014fc895491cf4	The progression of iris degeneration, @DISEASE$, histological renal lesions, spondylosis, and hepatobiliary @PHENOTYPICFEATURE$ suggest this cat was closer to 10 years old.	false
+b3df22d5e287450b2428b546a8755beb62fded1f	An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (@DISEASE$), genitourinary anomalies, and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+9062e690aca3540c21f630e0e4dbbe6261e655af	She was diagnosed as @DISEASE$ associated with paraneoplastic @PHENOTYPICFEATURE$.	false
+a261a4a10d2fc34853743b02dc6d23da3ad68642	Anti-Hu is a polyclonal immunoglobulin G associated with a syndrome of paraneoplastic @PHENOTYPICFEATURE$/encephalomyelitis that principally afflicts patients with @DISEASE$.	false
+9c9ebc237a01540afae8e8927e417e0ec95ce33e	Of 26 patients with paraneoplastic @PHENOTYPICFEATURE$, 19 had @DISEASE$, 4 had breast cancer, and 3 had other neoplasms.	false
+6be6d9a9a87604b23ba6f36c1c44a5bd813774dd	To describe a patient with metastatic @DISEASE$, who presented with @PHENOTYPICFEATURE$, a high level of intact parathyroid hormone (iPTH), and multiple calcified metastatic lesions in the brain.	false
+7d22689b78b0fec2af38356bb3edf5bf0d3c2b6d	A patient with diffuse intestinal pseudo-obstruction consisting of gastric paresis and impaired small and large bowel motility, mononeuropathy multiplex, and @PHENOTYPICFEATURE$/neuronopathy was found to have @DISEASE$.	false
+c8c7578275956480f0c11d95e8220ae6f470de90	We report the development of Lhermitte's sign accompanied by cervical motor neuropathy, dorsal column myelopathy, and @PHENOTYPICFEATURE$ in a patient treated with cisplatin and etoposide for @DISEASE$.	false
+1de668e9e4b6be944adada3ecc7885b3b46fdf45	We looked for the presence of the anti-Hu antibody in the sera from 50 normal subjects; 44 patients with @DISEASE$, not associated with paraneoplastic disease; and 25 patients with small cell lung cancer associated with paraneoplastic @PHENOTYPICFEATURE$, encephalomyelitis, or both.	false
+85a843c5cd6e023242700c8044635647aca333fd	We looked for the presence of the anti-Hu antibody in the sera from 50 normal subjects; 44 patients with small cell lung cancer, not associated with paraneoplastic disease; and 25 patients with @DISEASE$ associated with paraneoplastic @PHENOTYPICFEATURE$, encephalomyelitis, or both.	false
+de1e5aaba67a935991e6e0ab8e2e56b5fca3122d	He was diagnosed as @DISEASE$ associated with paraneoplastic @PHENOTYPICFEATURE$.	false
+1650c219c6740875ac9650803ef23a7816b41317	@DISEASE$ associated with anti-Hu paraneoplastic @PHENOTYPICFEATURE$ and peripheral nerve microvasculitis: case report and literature review.	false
+6095e3679f5e759eccbcdcd2cce3d50c1ea37050	Clinicopathological and immunohistochemical studies were performed in a patient with paraneoplastic limbic encephalitis, myelitis, @PHENOTYPICFEATURE$ and cerebellar degeneration secondary to @DISEASE$.	false
+7e557db465c803a5cba8d7f95b1e17092121c34c	Twenty four of the 50 cases had anomalous coronary arteries (48%); eight cases had coronary artery dissection (16%); six cases had coronary artery vasculitis (12%); six cases had coronary artery spasm (12%); three cases had idiopathic @DISEASE$ (6%); two cases had fibromuscular dysplasia (4%) and one case had a benign @PHENOTYPICFEATURE$ occluding the left coronary ostium (2%).	false
+2d2edc6cc2563d0080a25ac13aa040dc2bdcf111	Facial characteristics include @PHENOTYPICFEATURE$, broad nasal bridge/bulbous or beaked nose, @DISEASE$, ear anomalies, and micrognathia.	false
+2cb200948cbebbf6a4320d634ca9dac9e2f2b00d	Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, @DISEASE$, ear anomalies, and @PHENOTYPICFEATURE$.	false
+265a98a2d01c7014fd8d7b5363433d5a7d980c59	We analyzed nine pregnancies (one twin) in which @DISEASE$ (CLP)--isolated or associated with, for example, holoprosencephaly, hypertelorism, and @PHENOTYPICFEATURE$--was diagnosed by ultrasonography.	false
+582ee47c5b004fffbfd7c40f53953d3ae4d873a0	We analyzed nine pregnancies (one twin) in which @DISEASE$ (CLP)--isolated or associated with, for example, holoprosencephaly, @PHENOTYPICFEATURE$, and micrognathia--was diagnosed by ultrasonography.	false
+b251bf78a99dcc8e975940a792ea51e0dfef34e3	The manifestations were profound postnatal growth and psychomotor retardation, @PHENOTYPICFEATURE$, @DISEASE$, corneal opacities, central nervous system impairment, and genitourinary anomalies.	false
+787e1c597e1415d27693d68ffef6df76d20701c8	The manifestations were profound postnatal growth and psychomotor retardation, hydrocephaly, @DISEASE$, @PHENOTYPICFEATURE$, central nervous system impairment, and genitourinary anomalies.	false
+1f4f4cbe4d02ba53d08c406b5041f35a841ca20c	Sonography reveals asymmetrical foetal @PHENOTYPICFEATURE$, a severe heart defect and bilateral @DISEASE$, typical findings in triploidy.	false
+adea84d41693d3319b11da7b00db253299c32971	Sonography reveals asymmetrical foetal growth retardation, a severe @PHENOTYPICFEATURE$ and bilateral @DISEASE$, typical findings in triploidy.	false
+67bc906e4a5aa3cb2f670796fd1a889d0e3c3242	@DISEASE$, @PHENOTYPICFEATURE$ and profound psychomotor retardation.	false
+d76d6e667f8474a05c0f001d0c12b714cdcb4fc2	FASD comprises severe cognitive and structural birth defects including @DISEASE$, small jaw, @PHENOTYPICFEATURE$, dental abnormalities, digit abnormalities, small head, and short stature.	false
+6ee59b2cc2bcb08444bc876ec014da7be5ad6616	FASD comprises severe cognitive and structural birth defects including @DISEASE$, @PHENOTYPICFEATURE$, wide-set eyes, dental abnormalities, digit abnormalities, small head, and short stature.	false
+797cedae7962733b59fca6cd5ba39168d4a1efa0	The newborn exhibited @DISEASE$, bilateral microtia and atretic external auditory canals, chorioretinal coloboma, hypertelorism, and @PHENOTYPICFEATURE$.	false
+3217ace74fe7a62aee17b77e0871306175255f5c	The newborn exhibited @DISEASE$, bilateral microtia and atretic external auditory canals, chorioretinal coloboma, @PHENOTYPICFEATURE$, and micrognathia.	false
+7d43806d5bfcd70eb726dce0ec41b9fbdaea26b5	The clinical picture included growth retardation, bilateral @DISEASE$, @PHENOTYPICFEATURE$, short neck, microphalus and bilateral clubbed feet.	false
+f5ce9ea67c766be68a7babb22ede36d07fa05984	The clinical picture included @PHENOTYPICFEATURE$, bilateral @DISEASE$, micrognathia, short neck, microphalus and bilateral clubbed feet.	false
+0162846c5cd8c4454fe77a1745b6bfa9afdbdc5a	We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral @DISEASE$, @PHENOTYPICFEATURE$, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects.	false
+25dc929e3af0305ac23a3b62cef88d9b64ac8748	We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral @DISEASE$, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex @PHENOTYPICFEATURE$.	false
+0de6436416eda143e0fb362df92504f0950c3fad	We present a male infant with multiple congenital anomalies including severe @PHENOTYPICFEATURE$, microcephaly, hypertelorism, low-set ears, bilateral @DISEASE$, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects.	false
+5ba4865239fe2d82a793e3d8de11ea68417ef356	We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, @PHENOTYPICFEATURE$, low-set ears, bilateral @DISEASE$, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects.	false
+40c86f590a4f12045a461de10eec3b677f8d7c03	Manifestations include low birth weight, hypertelorism, bilateral @DISEASE$, cryptorchidism, and a complex @PHENOTYPICFEATURE$.	false
+189b208ac2f1fe71e3046c88865dbec215118d36	Manifestations include low birth weight, @PHENOTYPICFEATURE$, bilateral @DISEASE$, cryptorchidism, and a complex congenital heart defect.	false
+0df37af6cd0f7b305ef675464953a99f75066eae	Progressive @PHENOTYPICFEATURE$ and neck pain due to @DISEASE$ of the cervical spine: a case report and literature review.	false
+46f8c175381f9767a4377da1b890c3f2d02a852c	@DISEASE$: A Case with Dysphonia, @PHENOTYPICFEATURE$ and Myelopathy.	false
+fb27b04b2f4d806ee2b4fa6515774b0754e3e50c	@DISEASE$ (Forestier's disease) is a common disorder found in the spinal region, but the notable finding in this case presentation is the associated @PHENOTYPICFEATURE$ and dysphonia that occurred with it.	false
+26d47fe77f229c85fdb24ed482ec7ba7828d7fa5	[A case of @DISEASE$ presenting @PHENOTYPICFEATURE$ and restrictive ventilatory impairment].	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+5485404a725fecd10707fd306bd733d327e79a6a	@PHENOTYPICFEATURE$ hyperostosis occurring with vertebral disorders, although not well known, has been described in patients with @DISEASE$ (DISH).	false
+2c7d0c89ff9cdb5fbdbeb7311eae62a18c876a2c	@PHENOTYPICFEATURE$ in @DISEASE$: lack of participation of the vagus nerve.	false
+e69999e89c1d0a2f92db61c64eab00527b986fff	@PHENOTYPICFEATURE$ and anti-M2 and anti-?1 receptor antibodies in @DISEASE$ patients.	false
+f7b5a12756ea2e059ee825eb9c6a0e890633fdca	A summary perspective on the clinical-functional significance of cardiac @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3173b84fd933cdacf8dc38ae835b4dc5c233527b	@PHENOTYPICFEATURE$ and vagal denervation is common in @DISEASE$.	false
+be8b31fd5ede0292b28ad8ad9a05f3af231d85ed	Insights into the clinical and functional significance of cardiac @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3dc0df70f69a6c92766ddff3aec32a0ea0032bd4	@PHENOTYPICFEATURE$ is common in @DISEASE$ and diabetes.	false
+7dd424a06f7b22a3d12cc45a499a3457227c56f7	Cardiac @PHENOTYPICFEATURE$ and neuroganglionitis in a rat model of chronic @DISEASE$.	false
+28d118f6e359588822c040733179f03c8c7b1e68	@PHENOTYPICFEATURE$ and ventricular dysfunction in the indeterminate form of @DISEASE$.	false
+4060aac3b91f1d77fd54ade81fa9cd424a179557	Despite the key autonomic effect on cardiovascular functioning, the pathophysiological and clinical significance of the cardiac @PHENOTYPICFEATURE$ in @DISEASE$ remains unknown.	false
+163c7f38c4151bb753cbcbff131a38156ad505e6	Cardiac @PHENOTYPICFEATURE$, with preserved putative measures of sympathetic and parasympathetic modulation in relative terms, was less severe or absent in the indeterminate and pronounced in cardiac form of @DISEASE$.	false
+67fdd43ac63157e2d06cd69d2f85ae0535ab1f11	MRI evaluation in @DISEASE$ (FSHD) demonstrates fatty replacement and inflammation/@PHENOTYPICFEATURE$ in muscle.	false
+459e475388be3634c41329b24681a5c6929cd722	MRI evaluation in facioscapulohumeral muscular dystrophy (@DISEASE$) demonstrates fatty replacement and inflammation/@PHENOTYPICFEATURE$ in muscle.	false
+4c2a0ea7fdc12d9124b7cde49e3fe8a22e5302f3	A 40-year-old male with history of @DISEASE$ with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc @PHENOTYPICFEATURE$.	false
+766402127d48a45c07d87d7e12a90526c68c3768	@DISEASE$ and occurrence of heart @PHENOTYPICFEATURE$.	false
+93d96d18a267cd7e0e378024ec6a00cb159f1602	As a discrete biomarker, @PHENOTYPICFEATURE$ may be useful for following the clinical course of @DISEASE$.	false
+2dba1dc4bde8cf9f33a7ad131cc85f79319c4cf7	In a series of 100 patients exhibiting clinical and molecular features of @DISEASE$ (FSHMD), five patients had conduction defects or @PHENOTYPICFEATURE$ in the absence of cardiovascular risk factors--namely, intraventricular conduction delay and supraventricular arrhythmia induced by electrophysiologic investigations (two patients), palpitations associated with supraventricular arrhythmia (one patient), severe atrioventricular block leading to pacemaker implantation (one patient), and ventricular tachycardia related to arrhythmogenic right ventricular cardiomyopathy (one patient).	false
+8271f9c241e6c5fe66816469ec5f5fb7d349f965	Detection of @PHENOTYPICFEATURE$ and diagnosis of @DISEASE$.	false
+be85090f9b56850b09d0bcfed635e7493e5cae76	Increased T2 signal consistent with @PHENOTYPICFEATURE$ was common in @DISEASE$ subjects, a pattern not present in healthy controls.	false
+3857cb01cfa30780317ee8a4c1c3c78e2334b587	To investigate the effects of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT), directed towards an increase in daily physical activity, on the progression of fatty infiltration and @PHENOTYPICFEATURE$ in skeletal muscles of patients with @DISEASE$ (FSHD) type 1 by T2 MRI.	false
+b8407eaa697a488be83feb987dfa3108911fe8b3	To investigate the effects of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT), directed towards an increase in daily physical activity, on the progression of fatty infiltration and @PHENOTYPICFEATURE$ in skeletal muscles of patients with facioscapulohumeral muscular dystrophy (@DISEASE$) type 1 by T2 MRI.	false
+225c535f0a2ee2fea23f2d1c7c908610563bf232	We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 @DISEASE$ patients and assessed images, both quantitatively and visually, for fatty infiltration, fibrosis and @PHENOTYPICFEATURE$.	false
+4da78a4d79cca3bf47e0a965f6687cd57da2768c	@DISEASE$ of the esophagus is a relatively rare problem in children, but it may be the cause of severe lung disease, @PHENOTYPICFEATURE$ and respiratory death in young infants.	false
+537a050fbbfd57e342560a1568723b6dcbcd9240	@DISEASE$ is a rare oesophageal motility disorder which classically is not associated with @PHENOTYPICFEATURE$.	false
+922e62ed4031fd5529642328b5535572c5240a7d	Acute right @PHENOTYPICFEATURE$ and @DISEASE$-like syndrome in a patient with limited cutaneous systemic sclerosis and primary biliary cirrhosis.	false
+b2c9e54b6498f8be80c1b2a0147b799244064969	@DISEASE$ and @PHENOTYPICFEATURE$ can coexist, albeit infrequently.	false
+e969b7cfecb12ec66ee52e43bc17e3561b7f0e5f	@DISEASE$ is a relatively rare medical condition that is classically not associated with @PHENOTYPICFEATURE$.	false
+f59792596196bee47a059ed8022c682d374fe6eb	Though rare, physicians should be aware that some patients with lcSSc may develop acute right @PHENOTYPICFEATURE$ or @DISEASE$-like syndrome.	false
+b425687411abf432282620a19ea5bd9cb4ee9579	@DISEASE$ of the esophagus is a relatively rare problem in children, but it can result in severe lung disease, @PHENOTYPICFEATURE$, or respiratory death in young infants.	false
+c32479ed82fa5ea87c63b5a3fd86ed9d66b110f3	@DISEASE$ is not historically associated with morbid obesity, yet dual treatment of morbid obesity and achalasia is becoming more prominent due to the worldwide @PHENOTYPICFEATURE$ epidemic.	false
+a77c1e6e00ab4da941b43400ec11291e36885f35	@DISEASE$ is an unusual motility disorder that can be seen in conjunction with @PHENOTYPICFEATURE$.	false
+ff83356e503e2473b1b8b071b80011b859129838	@DISEASE$ may mimic anorexia nervosa, compulsive eating disorder, and @PHENOTYPICFEATURE$ problems.	false
+a4374ed0f1efaeefe8eb721c97c98ae0c674c147	Postmortem examination revealed severe internal @PHENOTYPICFEATURE$, and a definitive diagnosis of @DISEASE$ attributable to internal hydrocephalus was made.	false
+9d43adbe20d2357793fcee119f845823bb5a57dc	Postmortem examination revealed severe internal hydrocephalus, and a definitive diagnosis of @DISEASE$ attributable to internal @PHENOTYPICFEATURE$ was made.	false
+f3caeceda06fa6d4ff61f3e9e9d68257a31ea4f5	The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, @DISEASE$, and sensory neural @PHENOTYPICFEATURE$.	false
+89d7629dc89d834182d1413dd6c63a5015c7ccdb	[Acute encephalopathy, @PHENOTYPICFEATURE$ and @DISEASE$ as the first signs of Listeria monocytogenes meningitis].	false
+cff5ca6bec2af4650c95e69225b5bbe86612a9c1	A 14-year-old girl weighing 32 kg was diagnosed with suprasellar tumor causing @PHENOTYPICFEATURE$, hypothyroidism, adrenal dysfunction and @DISEASE$.	false
+6dd9810a79ad28fc4d1b4de96f4c7cebe78100cf	We present two cases of transient @DISEASE$ in preterm neonates with post-hemorrhagic @PHENOTYPICFEATURE$.	false
+3cd0cd4e4daeccdf283a6980cb160ad80e6b3318	Hypothalamic @PHENOTYPICFEATURE$ complicated by adipsic @DISEASE$ following surgical resection of a craniopharyngioma.	false
+09653a44c099965a6c0be96728833e4e591d54c9	The patient's pre-operative evaluation was significant for pseudotumor cerebri, hyponatremia, @PHENOTYPICFEATURE$, and a history of smoking; post-operative course was significant for @DISEASE$.	false
+50e50bfc2819fa367ea2bb8e3235fd9cf327396a	The patient with occlusive @PHENOTYPICFEATURE$ developed a postoperative cerebrospinal fluid leak (subsequently revised), two patients developed temporary, one permanent @DISEASE$, and one of them transient hyponatremia.	false
+0083f7d5b2fa823134633fd288de7148b0660d18	We report the case of a newborn with aHPE, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fb5de5f859aa0b1fdbc24662b71c4e3ed3a747ef	@DISEASE$ (CDI) can arise as a consequence of resultant hypothalamic dysfunction from @PHENOTYPICFEATURE$ and must be distinguished from nephrogenic diabetes insipidus (NDI) by exogenous vasopressin response.	false
+382cc5c0c1663a8d115035bdf42bf1a3bc944559	These animals displayed physiological changes similar to those of patients with @DISEASE$, including @PHENOTYPICFEATURE$, thin skin, spleen atrophy, and hyperglycemia.	false
+44851430e0b6304501a74165a4c7a3a2cd788b81	These animals display physical changes similar to those of patients with @DISEASE$, such as excess fat accumulation, @PHENOTYPICFEATURE$, thin skin, and alopecia.	false
+23665f86aea499a43b9abc745c7f26372558f6f4	@DISEASE$ may rarely present with life-threatening hypercortisolism, manifested by hypertension, hypokalemia, hyperglycemia, and @PHENOTYPICFEATURE$.	false
+03f7d05deac89644095b8eea8b518df34ba1b69b	Shortly thereafter, he developed progressive disease with biopsy proven neuroendocrine prostate cancer as well as symptoms of @PHENOTYPICFEATURE$, hypokalemia, hypertension, hyperglycemia and profound weakness, consistent with ectopic @DISEASE$.	false
+3245c8c635912497afdbc966e604bc37bd009e20	[@DISEASE$ with diffuse @PHENOTYPICFEATURE$ at its beginning and hyperaldosteronism].	false
+1c8bd43b70aa52a9e955354bbd074a51bf9bde1e	Despite @PHENOTYPICFEATURE$, @DISEASE$ patients have an increased LV mass, reversible upon correction of hypercortisolism.	false
+0fd1a0f281096258bbfd26e877f07af92d082d43	The data suggest that the breakdown of cytoplasmic components by cellular autophagy is important for the development of @PHENOTYPICFEATURE$ as observed following long-term ACTH treatment or in @DISEASE$.	false
+68682bc819e24710cc7c3068e2f1904b1d70fef2	All patients presented typical signs of @DISEASE$, blood hypertension, and four of them had @PHENOTYPICFEATURE$.	false
+13d5e14fdd9d10b607a6756862f3741328224e2d	[Recurrent @PHENOTYPICFEATURE$ and hypokalemia as form of presentation of cyclic @DISEASE$ caused by an adrenal adenoma].	false
+08249d489b2ff380490ddcaa0b5d9efedb78e712	In patients with @DISEASE$, chronic glucocorticoid excess disrupts physiological internal milieu, resulting in central obesity, @PHENOTYPICFEATURE$, fatty liver, and insulin resistance.	false
+29cb8626aaa0f7ec402190090a3040ec1eb30843	Comparisons between clinical presentations showed that SASH1-related phenotypes can exhibit hyper- and @PHENOTYPICFEATURE$ on the trunk and extremities, similar to dyschromatosis, while scattered caf? au-lait spots usually appeared in PTPN11-related @DISEASE$.	false
+6db562046bd90495d30fa962cb8ff31997776f73	Oculocutaneous @PHENOTYPICFEATURE$, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, @DISEASE$, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology.	false
+19b38277c2cd0808cb195ec5874f5e1e6b0475ec	Exosomes derived from keratinocytes modulate melanocyte pigmentation, which has been utilized as a novel mechanism for the regulation of pigmentation in conditions including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+11540ed03f0564d14ae302b5f05bff1cf249a9d0	@DISEASE$ pathway @PHENOTYPICFEATURE$.	false
+e6686e85fe4dac0574f4adaca08d3c8dd785aa9e	@DISEASE$ pathway @PHENOTYPICFEATURE$ in children.	false
+56f20ff78e79c0f1891891840bdf40ba141e9a2d	@DISEASE$ chiasm glioma associated with inappropriate secretion of antidiuretic hormone, @PHENOTYPICFEATURE$, nonobstructive hydrocephalus and chronic ascites following ventriculoperitoneal shunting.	false
+c56d899b6e06b6d7fb83b6316c2f7c670e27f8c0	Eleven patients showed @DISEASE$ pathway @PHENOTYPICFEATURE$.	false
+d8930981c46995baa4cc5aa7b797335bf92504a9	It is characterised by caf? au lait spots, peripheral neurofibromas, Lisch nodules, axillary freckling, @PHENOTYPICFEATURE$, and @DISEASE$ glioma.	false
+c7d1f70f907d206aa200ba8a820eb583af3bea23	@DISEASE$ pathway gliomas are @PHENOTYPICFEATURE$!	false
+1d96b8615d5cf86ac668a656bbe0480b264e2725	In NF1, malformative @PHENOTYPICFEATURE$ are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as @DISEASE$ pathway gliomas, other tumors, and UBO.	false
+5c0ce712f955ab2a8b894fbe3d83dc33b48861f9	In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as @DISEASE$ pathway gliomas, other @PHENOTYPICFEATURE$, and UBO.	false
+11540ed03f0564d14ae302b5f05bff1cf249a9d0	@DISEASE$ pathway @PHENOTYPICFEATURE$.	false
+9f09589d4cd4e24230eb641ee046666a4baf4499	[@DISEASE$ disc @PHENOTYPICFEATURE$].	false
+74de8b7e66f6063c33abfe80e48901aaa15fda15	Diagnostic findings include neurofibromas, lisch nodules, caf?-au-lait macules, freckling, @DISEASE$ pathway gliomas, and @PHENOTYPICFEATURE$.	false
+d43e5e2e1dee2d966ad2df05c6bc5d5ac55156f1	@PHENOTYPICFEATURE$ (IS) are a severe form of childhood epilepsy associated with autism spectrum disorders (@DISEASE$) in up to 35% of cases.	false
+5ee94d969754bbbba2648d83686212e3fa2ea006	Our functional analysis revealed that the molecular signature of En2-/- cerebellum and hippocampus shares convergent pathological pathways with @DISEASE$, including @PHENOTYPICFEATURE$, altered developmental processes and increased immune response.	false
+872e2d855307bbffae97bd8a1240cc9b7c24fc83	This study aimed to understand the similarities/differences in @PHENOTYPICFEATURE$ of subjects with schizophrenia and those with @DISEASE$.	false
+510b8a3c34fee647262910798dfb6dd3a3c40720	Disruption of Gpr48 causes a wide spectrum of anterior segment dysgenesis (@DISEASE$), including @PHENOTYPICFEATURE$, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis, and cataract.	false
+8c9bfb5647bbce35ae275089fc52cbc2a97d2834	Disruption of Gpr48 causes a wide spectrum of anterior segment dysgenesis (@DISEASE$), including microphthalmia, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis, and @PHENOTYPICFEATURE$.	false
+496d04622b1ff9d1d8a1d15f13ffe4129176a856	However, it is still unclear whether @PHENOTYPICFEATURE$ in schizophrenia and in @DISEASE$ have common features.	false
+7c611190a153cd8511ea6efad39ba47cd16959bc	Subjects with either schizophrenia or autism spectrum disorder (@DISEASE$) have been reported to show @PHENOTYPICFEATURE$.	false
+43a0173a46ec7eef25baf833cb1b81038bce6b17	All subjects had some form of cognitive @PHENOTYPICFEATURE$ independent of @DISEASE$ severity.	false
+bc76d932b4cf756098c74d27c0451daa86f47319	A 4-month-old female with a clinical diagnosis of LNSS presented with @PHENOTYPICFEATURE$, mental retardation, skull dysplasia, ocular abnormalities, @DISEASE$, and LMs.	false
+79c2e30d18a46ec2ef078d4ca491662dfa7fda03	Glaucoma is frequently observed in patients with anterior segment dysgenesis?(@DISEASE$), microcornea or @PHENOTYPICFEATURE$.	false
+372830e3101a835a6397256388e0c83dd9a51a62	@PHENOTYPICFEATURE$ is frequently observed in patients with anterior segment dysgenesis?(@DISEASE$), microcornea or microphthalmia.	false
+d08d2c98959ab78350454ac989bf96ce0c964405	The present results suggest that @PHENOTYPICFEATURE$ in the subjects with @DISEASE$ are different from those with schizophrenia and that the tasks in this study are suitable to detect eye movement abnormality in schizophrenia.	false
+8795f4d1c545e3eff7cdd835c589fba3368a7ce5	The present results suggest that eye movement abnormalities in the subjects with @DISEASE$ are different from those with schizophrenia and that the tasks in this study are suitable to detect @PHENOTYPICFEATURE$ in schizophrenia.	false
+a0a7dc1ca710f43080fea59833e3d3c5648576d1	microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset @DISEASE$, severe hypomyelination, @PHENOTYPICFEATURE$ attention, and developmental delay.	false
+ca26ca603c31836abfe86d95be87113fa2506453	Several studies have reported behavioral and electrophysiological evidence of @PHENOTYPICFEATURE$ during the active stage of @DISEASE$.	false
+56366bf1eefb9378e737f38e0fa134a22a182d2e	The guidelines address both epileptic encephalopathies (@DISEASE$, Lennox-Gastaut syndrome, and Dravet syndrome) and idiopathic epilepsies (@PHENOTYPICFEATURE$, epilepsy with centro-temporal spikes and juvenile myoclonic epilepsy).	false
+b4898f8eab93409431875100fd6cc1c83a4d9e84	We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (@DISEASE$), hepatosplenomegaly, increased serum transaminases, iris coloboma, @PHENOTYPICFEATURE$, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space.	false
+39fd5b5eb2dc23835144281296e846af347d131c	Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus.	false
+7ce6648b70413c15d16c0e66420d47d604754b1d	B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-@DISEASE$, and @PHENOTYPICFEATURE$.	false
+e0f886edbe3b3159909e7c09fc8030571b99289a	@DISEASE$ is a rare genetic syndrome with @PHENOTYPICFEATURE$, lungs, kidneys, and limbs.	false
+9c90e8a4e599b145f5dc24c8d6c5dcb1029c1896	These observations together with recent literature data suggest that @PHENOTYPICFEATURE$ (agenesis or severe hypoplasia) are one of the most common features of the @DISEASE$ and may serve as one of diagnostic criteria for this entity.	false
+270b98140edb3dd46c70ef8e61ec4463fd672e57	We also noted patterns of anomalies (for example, bicornuate uterus with imperforate anus or anal stenosis and @PHENOTYPICFEATURE$) that are found in other syndromes and associations without cryptophthalmos, suggesting that common modifier genes may explain some of the phenotypic variation in @DISEASE$.	false
+4de4d8e1a867215cea74b2c72be1213d669ddf06	@DISEASE$ are never associated with @PHENOTYPICFEATURE$ and extremely rarely cause obstructive hydrocephalus.	false
+d2506dd2a6449d93b5196d21b97b74f697497bf7	Moreover, Tc1, but not Tc2, exhibited a @PHENOTYPICFEATURE$-specific cytotoxicity against A20-OVA but not against @DISEASE$ fibrosarcoma.	false
+c9404160f9e56fd0a362dde60c7f8cf8b610e662	@DISEASE$ is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, @PHENOTYPICFEATURE$, and agenesis of the corpus callosum.	false
+0f75d2f610a0455c74e1b2028a43b1331e8b6fc4	The aim was to determine changes in signs of temporomandibular disorders (@DISEASE$) and in mandibular movement capacity in subjects with articulatory @PHENOTYPICFEATURE$ and in controls by re-examining a sample of 187 previously studied children from 10 to 15 years of age.	false
+bff90743b11ab057073c16474d8939eb7b0d3a41	There was no association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e453f714e57f4730e0ca64a9c0a6556b035185c4	Parameters calculated in 40 study group patients were Berlin questionnaire responses, @PHENOTYPICFEATURE$ hypopnea index (AHI), interincisor distance, Mallampati classification (MPC), neck circumference (NC), thyromental distance (TMD), NC/@DISEASE$ ratio, sternomental distance (SMD), upper lip bite test, lateral cephalometry derived gonial angle and mentohyoid distance (MHD), Muller?s manoeuvre during awake nasoendoscopy, Croft?Pringle grade of airway obstruction during DISE and effect of jaw thrust.	false
+85c4ee81deea8b8188959680bb5a532d6479674d	Parameters calculated in 40 study group patients were Berlin questionnaire responses, @PHENOTYPICFEATURE$ hypopnea index (AHI), interincisor distance, Mallampati classification (MPC), neck circumference (NC), thyromental distance (@DISEASE$), NC/TMD ratio, sternomental distance (SMD), upper lip bite test, lateral cephalometry derived gonial angle and mentohyoid distance (MHD), Muller?s manoeuvre during awake nasoendoscopy, Croft?Pringle grade of airway obstruction during DISE and effect of jaw thrust.	false
+28667f775059b7325b8807606032d193e8969959	@DISEASE$ is an anticonvulsant drug widely used against @PHENOTYPICFEATURE$ in the early 80's and PHE is an antiepileptic drug with a wide spectrum activity.	false
+34e74f2286195e247a29fdf352fb3e041e1a8a08	The X-linked condition "@DISEASE$ (AAS)" causes a characteristic combination of short stature, facial, genital and @PHENOTYPICFEATURE$.	false
+db57bf62364037af70268a9d25c3f2d63da9af3e	@DISEASE$ is a congenital disorder characterized by occipital encephalocele, @PHENOTYPICFEATURE$ and polycystic kidneys.	false
+ca161fa1da5814c38462cad27201829b2fdc6aa3	@DISEASE$ (MKS) is a lethal disorder associated with @PHENOTYPICFEATURE$ disease, encephalocele, ductal plate malformation and polydactyly.	false
+00f2c67eeb7e219d8996f62e4945e877af7c5ca3	@DISEASE$ (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and @PHENOTYPICFEATURE$.	false
+6699de6f8ab7dc0191347cacd28ce5c2ed59cbd2	@DISEASE$ (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and @PHENOTYPICFEATURE$.	false
+471fc37b1c6e8f758616517b90e42c95ef84a029	@DISEASE$ (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, @PHENOTYPICFEATURE$, hepatic fibrosis, and polydactyly.	false
+b80e97498e9768969e6517635d09ac0f681f6723	Mutations in human MKS1 cause @DISEASE$ (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, @PHENOTYPICFEATURE$, and kidney cysts.	false
+2e38411e4e5d0337fe556ac85648ae3e480aedb1	Mutations in human MKS1 cause @DISEASE$ (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and @PHENOTYPICFEATURE$.	false
+8c0599de8368fdf107f583dde2584acad1c75067	@DISEASE$ (MGS) is a rare disorder characterized by occipital encephalocele, @PHENOTYPICFEATURE$ and polycystic kidney.	false
+3d9d6546e706b126ca589dd9cc32a04181726f66	The three main features of @DISEASE$ are encephalocele, polycystic kidneys, and @PHENOTYPICFEATURE$.	false
+3dd9d0a5ab6d9a1f00cb55f3ce8a74cc787faa6a	@PHENOTYPICFEATURE$ in a carrier of the gene for the @DISEASE$.	false
+b30099ab0b451337c6f10044cf3dd9e74a38519e	@DISEASE$ (MKS) is an autosomal recessive disorder, characterized by a combination of @PHENOTYPICFEATURE$ and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly.	false
+1a1dad3f8a6b7f26a661066d0694580c8b365888	@DISEASE$ (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and @PHENOTYPICFEATURE$.	false
+ea977faca0c681b52b731ffb4e5436ed7951be94	@DISEASE$ (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and @PHENOTYPICFEATURE$.	false
+1bedc5210d9037904cd349ad19f69e70ce8ef0ec	@DISEASE$ (MKS) is a lethal autosomal recessive condition characterized by @PHENOTYPICFEATURE$ and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.	false
+3181d603e072a7098234eb55d7f9032ae27f89c4	@DISEASE$ is an autosomal-recessive disease characterized by a combination of @PHENOTYPICFEATURE$, anomalies of the central nervous system, polydactyly and ductal plate malformations (DPM), which are hepatic anomalies consisting of excessive and abnormal foetal biliary structures.	false
+984ad96c41fb8507f66294d6e23e47ad642fc101	@DISEASE$ is an autosomal-recessive disease characterized by a combination of renal cysts, anomalies of the central nervous system, @PHENOTYPICFEATURE$ and ductal plate malformations (DPM), which are hepatic anomalies consisting of excessive and abnormal foetal biliary structures.	false
+f43e92e473b66e5c6609f72ae4f579e18e7e1be7	The extrapulmonary manifestations observed were haemolytic anaemia (17 per cent), @DISEASE$ (4.1 per cent), @PHENOTYPICFEATURE$ (4.1 per cent), arthritis (2.1 per cent), hepatitis (2.1 per cent) and pericarditis (2.1 per cent).	false
+46265b1f32331e4d4afcc09dbd1ee10aafd03d3e	Nonetheless, several serious adverse effects (e.g., neutropenia, @PHENOTYPICFEATURE$, tumor lysis syndrome, @DISEASE$, and progressive multifocal leukoencephalopathy, resulting in death) have been reported with its use.	false
+3975ea3e8088ff9315e57975acd466bfbc01a884	5 neurologically asymptomatic patients (Glasgow Coma Scale score 15, slight @PHENOTYPICFEATURE$; aged 20 to 66 years) with an established diagnosis of severe @DISEASE$ were studied.	false
+607aedca211f394fa20b0390aa887c2d58da0d88	Patient and @PHENOTYPICFEATURE$ characteristics of this group that may be associated with @DISEASE$ development warrant further investigation.	false
+601d9051643b913c8ed35b2465ab2bec067557b7	Epidermolytic acanthoma (EA) is a rare benign @PHENOTYPICFEATURE$ that shows @DISEASE$ (EH) on histopathology.	false
+42d92f30bc59d347eeded0389d2387691dacb786	An inverse correlation existed between the incidence of @DISEASE$ and @PHENOTYPICFEATURE$ size (P<0.05).	false
+bf77fdcadea3454656abcf39d61fd67b30c2a568	Epidermolytic acanthoma is a rare benign @PHENOTYPICFEATURE$ that is characterized by @DISEASE$ on histopathology.	false
+dc81a57f2d7f2f943581a805a08772919c773505	Of the 30 patients with 34 benign @PHENOTYPICFEATURE$ there were almost no specific abnormality shown in the @DISEASE$ results.	false
+b94ccec9b7682ffb0ef885ba89782c0a3ad88799	Although it has been suggested that the edema which accompanies @PHENOTYPICFEATURE$ strongly influences @DISEASE$ tumour characterization, such information has not, until now, been documented in the literature.	false
+7eb011080c89a3b33370ba86c6def4aa1e4934f6	Although it has been suggested that the edema which accompanies tumours strongly influences @DISEASE$ @PHENOTYPICFEATURE$ characterization, such information has not, until now, been documented in the literature.	false
+4312291ea99cfc9921ed3629dd04507e51383d93	The mean @PHENOTYPICFEATURE$ size at initial detection was 52 mm3 (determined with @DISEASE$).	false
+28e65a4196f6f311d1eac5d7411acfb59734d236	The smallest @PHENOTYPICFEATURE$ identified with @DISEASE$ was determined with US to be approximately 8 mm3.	false
+64610532be44b8af569af62aebcd1660f7bac989	@DISEASE$ with a rare digital @PHENOTYPICFEATURE$.	false
+cc914a7f274d70447600d94e5431737bf2bc16b7	A novel threonine to proline mutation in the helix termination motif of keratin 1 in @DISEASE$ with severe palmoplantar hyperkeratosis and @PHENOTYPICFEATURE$ of the digits.	false
+01af36c87fb6457a05f4123eb5b262a945c439e2	A case of @DISEASE$ of the temporal bone involving the temporomandibular joint, and presenting with @PHENOTYPICFEATURE$ and recurrent temporomandibular joint dislocation, is reported.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+b8ed2faf298fbd05671573a4e6bbabf8a2e899be	Ablepharon-macrostomia syndrome (@DISEASE$) is characterized by absent or short eyelids, macrostomia, @PHENOTYPICFEATURE$, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients.	false
+fafee2e919247092c69e23f7db72e1a5fd007e75	A novel use of botulinum toxin to @DISEASE$ bone cancer @PHENOTYPICFEATURE$.	false
+0448d28089213c30e200655a7a7e317309a74a12	To resolve this, we proposed amino-functionalized mesoporous silica (@DISEASE$) particles as delivery carriers of the @PHENOTYPICFEATURE$ drug, brimonidine.	false
+ff33cba8083bf315515159aeaf9876cec4c8cce2	Myelofibrosis is a chronic myeloproliferative neoplasm characterised by splenomegaly, cytopenias, @DISEASE$, and debilitating symptoms including fatigue, @PHENOTYPICFEATURE$, and bone pain.	false
+bb3fd2d9a5dea08a05a1d9c7f9a7283f850ea9ee	The objective of this review is to describe the reported and potential toxicities of the TGFs, including @DISEASE$, thrombosis, rebound thrombocytopenia, hematologic malignancy, neutralizing antibody formation, hepatotoxicity, @PHENOTYPICFEATURE$ formation, and common adverse events.	false
+6beaff332301b086625778502574a09768db18ed	[A case of acute granulocytic leukemia following the initial stage of @DISEASE$ and hypoplastic @PHENOTYPICFEATURE$ (author's transl)].	false
+be2fb48a5e771fcdc057bc94e3b1508ee6c9eb91	Presenting binocular Snellen 6 m distance acuity and best monocular 3 m Sonksen-Silver acuity to classify prevalence of blindness by World Health Organisation criteria (less than 3/60 in better eye) and @DISEASE$ criteria for legal blindness (better eye equal to 6/60 or less) and of low vision by WHO criteria (best acuity 6/18) and @PHENOTYPICFEATURE$ by American criteria (less than 6/12 or 20/40 but greater than 6/60 or 20/200 in better eye).	false
+a49178024ffb3cdff07913d47e321fdfc5e2808b	After 7 years of moderately flaring disease the patient deteriorated and presented with @PHENOTYPICFEATURE$, pleuropericardial effusion, @DISEASE$, proteinuria and moderate hypertension.	false
+ef56eb7b67abfd6fab743bf59aaf9f28480b4973	A 47-year-old woman presented with severe hemolytic uremic syndrome (@DISEASE$) followed by @PHENOTYPICFEATURE$.	false
+5437bdf9559676c01348e1253a2134bd50c035fc	A 47-year-old woman presented with severe @DISEASE$ (HUS) followed by @PHENOTYPICFEATURE$.	false
+1ff41956ba9579876f5c3d69867ee0e78bcb99f7	In conclusion, children with a history of @DISEASE$ have an @PHENOTYPICFEATURE$ reserve like children with a single kidney.	false
+736564ddcd849e44100963378668f910ebd0bd40	Rare but severe side effects are a @DISEASE$, pneumonitis and @PHENOTYPICFEATURE$.	false
+a266fa8d3eb458b5a5b6a75e6a9cc6106cacdc99	Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP/@DISEASE$) is a multisystem disorder characterized by consumptive thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, @PHENOTYPICFEATURE$, and fever.	false
+6d9f514c31bce69e552333686dba3179514c2f32	Thrombotic thrombocytopenic purpura-@DISEASE$ (TTP/HUS) is a multisystem disorder characterized by consumptive thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, @PHENOTYPICFEATURE$, and fever.	false
+83fe2ec06ee36be71e8d5998d1a82f7e4a60c0ad	Acute bromate poisoning associated with renal failure and @PHENOTYPICFEATURE$ presenting as @DISEASE$.	false
+55e60e3fdd579ce23d8e5ec801611ac206c18495	We hypothesized that @PHENOTYPICFEATURE$ may affect the development of @DISEASE$ through an alteration of immune responses and kidney function.	false
+855997d5d27eb5f4cce9c03ad3fad5b5de2bef5a	A 24-year-old woman presented a severe @DISEASE$ followed 3 months later by a @PHENOTYPICFEATURE$ diagnosed echographically as a dilated cardiomyopathy.	false
+9c23e925a867420d314d80baf2467106e7a80d23	Complement-mediated @DISEASE$ (otherwise known as atypical HUS) is a rare disorder of uncontrolled complement activation that may be associated with @PHENOTYPICFEATURE$.	false
+93bc7527a92c924783222112fab4a905dd850883	Troponin I levels in a @DISEASE$ patient with severe @PHENOTYPICFEATURE$.	false
+d9ee5a1b8dba3349c6fa7174ee772c6d492d2222	We present a patient with @DISEASE$ who was diagnosed with an intracranial chondrosarcoma after presenting with hearing loss and @PHENOTYPICFEATURE$.	false
+1b7da0f0590751d8a20493b679075d3ef179ed69	MRXS5 or @DISEASE$ was described 20 years ago in a four generation family including nine affected individuals presenting with @PHENOTYPICFEATURE$, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis.	false
+2d5d98ddd368582e9f02242868109837649900f9	To our knowledge, @PHENOTYPICFEATURE$ have rarely been reported in @DISEASE$, and they illustrate the variable clinical expression of chromosome 22q11 deletions.	false
+3eec7ff2988dd349da21dc81d997e750fe0f1948	The Dgcr14/Es2 gene is located in a chromosomal region the loss of which has been associated with @DISEASE$, a cause of immunodeficiency, heart defects, and @PHENOTYPICFEATURE$.	false
+4f037cf4b2d82da8932b295864b74c00cb24b268	[Schwartz-@DISEASE$ due to a mediastino-pulmonary @PHENOTYPICFEATURE$.	false
+352826fe43bc893ad9312ad55eab2a7351b4ab89	PRIMARY ALDOSTERONISM: Clinical manifestations include hypertension, @DISEASE$, renal dysfunction, nephrogenic diabetes insipidus, @PHENOTYPICFEATURE$, paresthesias, tetany and, in severe cases, paralysis.	false
+0f30260ad9acb321692682f89e35c5f1990e2b3c	Extensive investigation including whole-body examinations with computed tomography and magnetic resonance imaging did not detect the suspected ectopic ACTH-producing @PHENOTYPICFEATURE$ in a patient with advanced Cushing's syndrome and @DISEASE$.	false
+81d441094f8c68a010597a6487b724dcaf13e022	The normotensive patient clinically resembled @DISEASE$ but had some elements suggestive of a renin-secreting @PHENOTYPICFEATURE$, justifying surgical exploration and resection.	false
+a9bdcd15d5753e6f44846bbba0f5e766dd5b0404	Extremely high values of AVP were found in the urine of 5 subjects with Schwartz-@DISEASE$ associated with bronchogenic @PHENOTYPICFEATURE$.	false
+8cb268c0957386be67f31294398e90ef846eea45	These assays were carried out on tissue extracts prepared by mashing @PHENOTYPICFEATURE$ fragments or lymph nodes removed from a patient with the Schwartz @DISEASE$.	false
+70f1cd7f1d7f5aa6bbedbd14a9da3d00bdaf2deb	In a female with @DISEASE$ ultrasonography and explorative surgery were carried out in order to reveal endocrine @PHENOTYPICFEATURE$ (reninoma), as well as an occasional finding during cholecystectomy.	false
+92b733e56a89d9568d44a050bcb715d24ca4e345	We report on diagnostic and differential diagnostic considerations in the case of a 30 year old Italian woman with @DISEASE$, fatigue and @PHENOTYPICFEATURE$.	false
+a9819b8cf689622e0a075c3c0166c15f22677524	In contrast to the usual presentation of the ectopic ACTH syndrome as primarily @DISEASE$ and glucose intolerance, patients with relatively benign and indolent ACTH-secreting @PHENOTYPICFEATURE$, such as certain cases of medullary carcinoma of the thyroid, may present with more typical signs and symptoms of Cushing's syndrome.	false
+d08e429b7ec8e2b47ae1f6120b79f4587d53c1ff	Forty-two patients with @DISEASE$ (prolactinoma) demonstrated by a radiologically abnormal sella turcica and @PHENOTYPICFEATURE$ were treated with bromocriptine.	false
+bc13829a3dcef0d516c7aef1655155ae118b0c56	Forty-two patients with prolactin-secreting pituitary adenoma (@DISEASE$) demonstrated by a radiologically abnormal sella turcica and @PHENOTYPICFEATURE$ were treated with bromocriptine.	false
+f046dc29f0b55b1a9d1ccf63bc3102c0a5c90d3c	Asymptomatic @PHENOTYPICFEATURE$ and @DISEASE$ in the general population--mass screening by paired assays of serum prolactin.	false
+df94c3de8354d378982d692d7747aedfa6c87b6b	In this transcultural study, clinical characteristics of @DISEASE$/@PHENOTYPICFEATURE$ were compared between a liberal, western, industrialised country and a more traditional, Islamic, oriental society.	false
+6cc8efa67d42dc969d222f49565c84ed41d40d68	This study reports a six year experience with quinagolide (CV205-502) in the treatment of 40 patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+50b1b8621a53cd80e6acd15a95ebcb386bbbc071	Bromocriptine, a dopamine D(2) receptor agonist, is a therapeutic agent for patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+17805c2b24760e023cc6e9ca455d67683122fb5f	Furthermore, this galactorrhea case was associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+55db30942ca09bb96b6091fd6d558cc3ed8f3a54	We conclude that the findings in our patient do not support an association between PTC and @PHENOTYPICFEATURE$ or @DISEASE$.	false
+5d30237a990af65ee758e8c001c9259fbc4958be	@PHENOTYPICFEATURE$ and @DISEASE$ in patients with long-term primary hypothyroidism have been recognized for decades.	false
+4b9f46f65a315868925721b9cd28adfcbfe0715f	This report illustrates that amenorrhea, galactorrhea, mild to moderate @PHENOTYPICFEATURE$, and a sellar mass should not automatically be attributed to the presence of a @DISEASE$.	false
+a7c4c12c5cf3a32774a4fd3e3eb1580a5ef6a640	We suggest that the diagnosis of DiGeorge-@DISEASE$ be entertained in patients with @PHENOTYPICFEATURE$ in the context of other common clinical features of this syndrome.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1961b142e03a01f2879f873854803f59a288b856	@DISEASE$ (22q11DS) is a common genetic condition associated with learning @PHENOTYPICFEATURE$ and high risk for psychiatric illness, in particular schizophrenia.	false
+ea4346ecc4ec09bc2f32d9fa0bd946e940b75384	We report a patient with clinical and cytogenetic findings consistent with DiGeorge-@DISEASE$ and @PHENOTYPICFEATURE$.	false
+373e5fb2a5eb7a740d15f0c1d0c17a9a40f66862	@PHENOTYPICFEATURE$ in the head and neck area in @DISEASE$.	false
+ab7254d87ab43e321d1caa966727abadd7e05303	@DISEASE$ is associated with interstitial deletions of chromosome 22q11, mild to borderline learning @PHENOTYPICFEATURE$, characteristic dysmorphology, and a high prevalence of schizophrenia.	false
+962a54c8000f9e4c369288c4cc68083a4d53293e	Ectrodactyly-ectodermal dysplasia-cleft lip/palate (@DISEASE$) syndrome is an autosomal dominant form of ectodermal dysplasia associated with @PHENOTYPICFEATURE$ and orofacial clefting.	false
+a65003e19d5f98f5cf04d40c804f60b21050c76b	Extracardiac @PHENOTYPICFEATURE$ (cleft hands and feet) were also detected and classified as an ectrodactyly-ectodermal dysplasia clefting (@DISEASE$) syndrome.	false
+b98212cea1f74c588126ca3744a6f9987e940e21	The variant in the @DISEASE$ patients exhibited a lower activity than the one seen in the boy with @PHENOTYPICFEATURE$, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used.	false
+9ab6dfbed033957757a797598f99a63e8a858bb2	The major clinical features of @DISEASE$ are photophobia, @PHENOTYPICFEATURE$ and abnormal colour vision.	false
+1eed35b1bd8294b7290338f9910627f2f8406696	Primary clinical features include rod-@DISEASE$, @PHENOTYPICFEATURE$, central obesity, genital abnormalities and mental retardation often presenting as learning difficulties.	false
+ced1266599b1c5fcd6b434b11ce40f8ca45b1659	Rod-@DISEASE$, obesity, @PHENOTYPICFEATURE$, hypogonadism, cognitive impairment and renal abnormalities have been established as primary features.	false
+8e9e051cddd16c7d99ad81c6b46b399b356caf52	Bardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, @PHENOTYPICFEATURE$, hypogonadism, learning difficulties, rod-@DISEASE$ and renal dysplasia.	false
+c6e3bf0c4b5a110003e2e81cdcc393f1cad6ed90	X-linked progressive @DISEASE$ (XLPCD) is characterized by progressive macular atrophy, abnormal colour vision, reduced cone responses in ERG, and @PHENOTYPICFEATURE$.	false
+4fff9a94c16999f42c19470bf1e710ceb4de00ff	Other clinical signs and symptoms of BBS are: @PHENOTYPICFEATURE$, hypertension, hyperlipidemia, hypogonadotrophic hypogonadism, intellectual disability, rod-@DISEASE$, genitourinary and renal abnormalities.	false
+05f65b7ea30f69b7349c8afe57eeb1a5a7e11b47	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-@DISEASE$, @PHENOTYPICFEATURE$, hypogonadism in males, and renal abnormalities.	false
+89c51f4fe6f0d83e78b3df4e045f8a2414f410dc	Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, @PHENOTYPICFEATURE$, rod-@DISEASE$, polydactyly, hypogonadism in males, and renal abnormalities.	false
+9e1bcf52acb19576984b645da5ff82ea16b17689	The primary clinical features are renal abnormalities, rod-@DISEASE$, post-axial @PHENOTYPICFEATURE$, learning difficulties, obesity and male hypogonadism.	false
+3bd6ffa4f179c7904aab5be685702a783af47e81	A mutation in SDCCAG8 is also associated with Bardet-Biedl syndrome (BBS), characterized by NPHP, obesity, @PHENOTYPICFEATURE$, and rod-@DISEASE$.	false
+651d1f91fac7dcacd4dbecf7d1c8ab623b381aef	Clinical diagnosis is based on the presence of central obesity, @PHENOTYPICFEATURE$, rod-@DISEASE$, varying degrees of learning disability, hypogonadism (in men) and renal abnormalities.	false
+d26ea91d0c537274c1596cd01aeb430cd1105d8a	This 3-dimensional operative video illustrates resection of 2 cervical spine schwannomas in a 19-yr-old female with @DISEASE$. The patient presented with lower extremity hyperreflexity and @PHENOTYPICFEATURE$.	false
+e287497016c768be6865dd08399e0a75ca902715	Neurosurgery Concepts: Key perspectives on quality of life in children with @PHENOTYPICFEATURE$, cilengitide for the treatment of newly diagnosed glioblastoma, surgery and stereotactic radiosurgery in the management of intracranial metastasis, Gamma Knife radiosurgery in patients with @DISEASE$, patient misconceptions on the diagnosis and treatment of lumbar spondylosis.	false
+eb91d7a7b3446839ce91b1aa71cef9790f5e7188	Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, @PHENOTYPICFEATURE$, gastrointestinal atresias such primarily as oesophageal and/or @DISEASE$ and mild to moderate mental retardation.	false
+0e7f47c38324fe9ce0a8b6c875633b9d82342462	Is @DISEASE$ really a neurophobic @PHENOTYPICFEATURE$?	false
+db5fdcfe8fcf805858235b5d6345c9c18b5100fe	@DISEASE$ risk and survival by @PHENOTYPICFEATURE$ MMR status.	false
+615ecbad7798dcee0ba75d1a1ff809a032452708	Prognostic significance of @PHENOTYPICFEATURE$ angiogenesis in @DISEASE$.	false
+e2ede2163155d5de36dc231db2bdcd10dc294f05	@DISEASE$ is one of the most common gynecological malignant @PHENOTYPICFEATURE$.	false
+c4664b687d14092be8f601881d07d2dc56422816	New molecular @PHENOTYPICFEATURE$ markers for @DISEASE$.	false
+db506a07d937e6e36aa8edf0c00759a8720095f1	Intra-@PHENOTYPICFEATURE$ heterogeneity for @DISEASE$ and its clinical significance.	false
+36bbb96cb18d904e73e33fadb59f565822c46d19	Prognostic significance of @PHENOTYPICFEATURE$ markers in @DISEASE$.	false
+cbc997748e4c375047001d598964596396624a00	In endometrial cancer many of the presumed @PHENOTYPICFEATURE$ markers are not specific for @DISEASE$ but are more tumor markers for cancer in general.	false
+17540385d6deb640a68d0ea51d603cee95b0286e	In @DISEASE$ many of the presumed @PHENOTYPICFEATURE$ markers are not specific for endometrial cancer but are more tumor markers for cancer in general.	false
+4a54edf43437049ee676c2e6b913ef37a5f6cd6d	In endometrial cancer many of the presumed tumor markers are not specific for @DISEASE$ but are more @PHENOTYPICFEATURE$ markers for cancer in general.	false
+30c0326c8f13e5b18c72e2ecf7a217d4630a5102	In @DISEASE$ many of the presumed tumor markers are not specific for endometrial cancer but are more @PHENOTYPICFEATURE$ markers for cancer in general.	false
+b9c3b5748d99d8acbc8ecd1982e28d8610c8024f	[Multiple @PHENOTYPICFEATURE$ in @DISEASE$].	false
+8ae8d5816bcca97ba0eac6aa6544727a9584cd54	Radiation-associated @DISEASE$ are prognostically unfavorable @PHENOTYPICFEATURE$: a clinicopathologic comparison with 527 sporadic endometrial cancers.	false
+7eb7737256d13c949a519364a002390d22d57036	Radiation-associated endometrial cancers are prognostically unfavorable @PHENOTYPICFEATURE$: a clinicopathologic comparison with 527 sporadic @DISEASE$.	false
+1c8e60de5545cb69af3e433aa1c0dbaa1841817e	The most typical clinical triad includes @PHENOTYPICFEATURE$, @DISEASE$ or cleft palate and aortic aneurysm with tortuosity.	false
+f14ae260227ee9c1118dcb1111f44f7ce230f569	She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, @PHENOTYPICFEATURE$, large floppy ears, @DISEASE$, and growth retardation with SD score less than -2 for height, weight and head circumference.	false
+79720c5a8a4169524e35a92f2eedd82484e2b54a	She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, @DISEASE$, and @PHENOTYPICFEATURE$ with SD score less than -2 for height, weight and head circumference.	false
+053feec4f707d9c6e4e5d0c8c4f66ca141aecc1f	She has some dysmorphic features including @PHENOTYPICFEATURE$, @DISEASE$, long philtrum, and dysplastic ears.	false
+1df753d56113afd322001cc0a9d91bc2a9d2bb03	We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, @PHENOTYPICFEATURE$, neurologic anomaly, deafness, renal anomaly, and @DISEASE$.	false
+973460c26d0ffac8df416e4fff8466b565846e2b	We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, @PHENOTYPICFEATURE$, renal anomaly, and @DISEASE$.	false
+6f97353df7168da8437bd1dc6e6ff49fea6c093d	Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+118964570cf8de4cc6be433e5e5f6adaed8d06e0	Patients with LDS may manifest @PHENOTYPICFEATURE$, @DISEASE$ or cleft palate, and arterial tortuosity.	false
+ca4fe2a26b0d4b05cc3f94d6356fe24b3adfd3b6	The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/@DISEASE$, micro-/retrognathia, upslanting palpebral fissures, @PHENOTYPICFEATURE$, and ear tags.	false
+812012bb13dabb186f592e03afdf577b097ec0d3	A detailed physical examination revealed @PHENOTYPICFEATURE$, @DISEASE$, retrognathia, talipes equinovarus, and camptodactyly.	false
+9356606a7b9af38a957174e4a708077fc29e037e	LDS is characterized by the triad of arterial tortuosity and aneurysm, @PHENOTYPICFEATURE$, and a @DISEASE$ or cleft palate.	false
+2018dd7a3883402ae71cbfdc699729161ff0e232	Loeys-Dietz syndrome is characterised by vascular aneurysms, @PHENOTYPICFEATURE$, and a @DISEASE$.	false
+60b3db5b68f7bcdc7edef3cdcb970e8c1486b3a4	Documentation of @PHENOTYPICFEATURE$ and @DISEASE$ for possible concomitant speech disorders.	false
+ed8a132fb5cc7cdad0eaee374d0fb54daebd1c36	Patients with @DISEASE$ have severe @PHENOTYPICFEATURE$ that render operation difficult.	false
+bd0d975324e3010e82daad92c27f34c31c2096e3	We report the perioperative airway management in a 12-year-old boy suffering from @DISEASE$ (TCS) and @PHENOTYPICFEATURE$ who was scheduled for elective dental treatment under general anesthesia.	false
+988daa1adace9fe973fd59cf24cb3b0e8394e7ed	One atypical form of LQTS, Timothy syndrome (TS), is associated with @DISEASE$, immune deficiency, cognitive and @PHENOTYPICFEATURE$ as well as distinct cranio-facial abnormalities.	false
+54226134cff894f6cd43510b1c4dc6ecee1dc031	Timothy syndrome (TS) is a rare genetic condition that associates long QT syndrome, structural heart defects, dysmorphic facial features, @DISEASE$, seizures, developmental delay, and @PHENOTYPICFEATURE$.	false
+671810e3d633981d71a3e03549db70bb9ae1826b	@PHENOTYPICFEATURE$ included @DISEASE$, polydactyly and lobster claw deformities.	false
+10389cfcd278c2077f7677135303e6ab1da193c3	Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous @DISEASE$, and various @PHENOTYPICFEATURE$.	false
+bd8fd915f275b45a31bd70e678852bf73e60c088	We report on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper @PHENOTYPICFEATURE$, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, @DISEASE$ of toes, and toenail hypoplasia.	false
+d5890a629a880c14f1c42da8126cc9c999f79c06	We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with @PHENOTYPICFEATURE$, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, @DISEASE$ of the fingers, and hypoplastic thumbs.	false
+cf39dbe6f0f6902e2234e15b488b08b9e014c317	We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, @PHENOTYPICFEATURE$, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, @DISEASE$ of the fingers, and hypoplastic thumbs.	false
+8c3a825040e68cc8342b696f43a10e9b675f9ce9	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial @DISEASE$; one patient was diagnosed with mucopolysaccharidosis type III, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+4c706457022f54de1c5b98aa6e50094c0977f597	A case of partial @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+6868dc3977e8acf8921464508a25caf99b75af21	Our patient is the first case of partial @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+a575d7f2aa0ad2c9a3adccddfbad0702db5b24db	At post-mortem clinical examination, the diagnosis of @DISEASE$ was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, @PHENOTYPICFEATURE$, and a cleft palate.	false
+50a6325634191cd3bf9c2aa0ec50912a8380b8b5	@DISEASE$ (DD), an autosomal recessive skeletal dysplasia, results in short-limbed @PHENOTYPICFEATURE$, generalized joint dysplasia, and spinal, hand, foot, and ear deformities.	false
+141b0a726a33cedf0456c27467d318d9ebdc92d2	The most common deformity found in skeletal dysplasias as a whole seems to be kyphosis: cervical kyphosis in @DISEASE$ and thoracolumbar kyphosis in achondroplasia, pseudoachondroplasia, and many of the @PHENOTYPICFEATURE$ syndromes of metabolic etiology.	false
+9d3debd517151cd054b4113d142253edf4dadbf5	Typical findings in @DISEASE$ are short-limbed @PHENOTYPICFEATURE$, multiple joint contractures, early degeneration of joints, and spinal deformities.	false
+f8e1c5905d0192fe874d16ffea7d5a59c026e1d3	Key search terms for cardiovascular abnormalities included all synonyms for the following groups: structural @PHENOTYPICFEATURE$, cardiac arrhythmia, blood pressure abnormalities, carotid sinus hypersensitivity (CSH), orthostatic hypotension (OH), vasovagal syncope (@DISEASE$), postprandial hypotension (PPH), arterial stiffness, heart failure, and cardiovascular disease.	false
+facd16056473cbef177a67ca17c9e260ce3e61c1	Key search terms for cardiovascular abnormalities included all synonyms for the following groups: structural cardiac abnormalities, cardiac arrhythmia, blood pressure abnormalities, carotid sinus hypersensitivity (CSH), orthostatic hypotension (OH), vasovagal syncope (@DISEASE$), postprandial hypotension (PPH), arterial stiffness, @PHENOTYPICFEATURE$, and cardiovascular disease.	false
+b15ab129576966334c077edf248a5899b3541480	The hypothesis of this study is that P-wave dispersion (PWD) can be a useful electrocardiographic predictor of cardiac @PHENOTYPICFEATURE$ in children with vasovagal syncope (@DISEASE$).	false
+de393023e300b25bad80e9cb72139533ec4365a4	This study investigated the role of sexual and physical abuse, sexual self-schema, sexual functioning, sexual knowledge, relationship adjustment, and psychological distress in 87 women matched on age, relationship status, and parity and assigned to 3 groups--vaginismus, @PHENOTYPICFEATURE$/vulvar vestibulitis syndrome (@DISEASE$), and no pain.	false
+73520f546d5fa91f1ef7604bfda5e157b64e604a	To this aim, we used a familial AD (@DISEASE$) model, the 5xFAD transgenic mouse, characterized by severe progressive amyloid pathology and @PHENOTYPICFEATURE$.	false
+6b3fe465164224c957beb45b24fc5e40372d1b63	This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild @PHENOTYPICFEATURE$ (MCI) and dementia in familial Alzheimer's disease (@DISEASE$) with E280A mutation on presenilin-1 gene (PSEN1).	false
+387130772decf5046de6616faa10de5bf34a911b	The present review focuses on the results obtained by MRI and FDG-PET studies that examined the preclinical AD stages in several at risk populations: (1) individuals from families with autosomal dominant early-onset AD (@DISEASE$), (2) patients with mild @PHENOTYPICFEATURE$ (MCI), particularly in memory, who are at very high risk for declining to AD with an estimated decline rate of 10-30% per year, (3) normal young and middle-age subjects carriers of known susceptibility genes for late-onset AD such as the Apolipoprotein E (ApoE) E4 allele, and (4) as age is the main risk factor for AD, normal elderly individuals followed to the onset of MCI and AD.	false
+5aaa13cb5f1364d0080ef28a17ee2ef87d9c63cf	Leukoencephalopathy with calcifications and cysts (@DISEASE$) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, cerebral calcifications, and parenchymal cysts.	false
+be492c0a1eb05c2d454e0eb6cbf776f984c606e4	@DISEASE$ (LCC) is an uncommon entity characterized by @PHENOTYPICFEATURE$ leukoencephalopathy, cerebral calcifications, and parenchymal cysts.	false
+a5ef92a612e8df3ff6616be714713f6b9e167fe9	@DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$ caused by mutations in the synthesis of the protein filamin B (FLNB).	false
+1f2cfec5f29eb71afe8bd0980943ef10dff9c67d	We report a male infant with de la Chapelle dysplasia (@DISEASE$), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+fbe34d513bfde7dc108aa672d10faf4242f6a0ed	@DISEASE$: a distinct @PHENOTYPICFEATURE$ with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.	false
+481917005aac5fba415ab125e63ad547637618de	The clinical and radiologic phenotype of @DISEASE$ overlaps with that of another @PHENOTYPICFEATURE$, autosomal dominant Larsen syndrome; these most likely represent allelic conditions.	false
+f5889e8b675aefc4fd8a05fa5d543060cc939611	This tumor in the patient documents that the BL of patients with @DISEASE$ probably arises from characteristic @PHENOTYPICFEATURE$-specific chromosomal translocations, as hypothesized in 1980.	false
+6fcfabdbf2d70c52d290b3365a5dd530fc0f05c7	This @PHENOTYPICFEATURE$ in the patient documents that the BL of patients with @DISEASE$ probably arises from characteristic tumor-specific chromosomal translocations, as hypothesized in 1980.	false
+c8b3c1a72429893f4cd1fe6281c982be37f42265	This collaboration led to novel discoveries that shed light on the critical role played by NK cells in the immune response against virus and @PHENOTYPICFEATURE$ in humans, as best exemplified by our characterization of the molecular mechanisms of impaired control of Epstein-Barr Virus (EBV) infection in patients with X-linked lymphoproliferative (@DISEASE$) disease.	false
+66698cfd95c7a89a5141662fcd950d41b1455dd1	The untreated @DISEASE$ may cause cachexia, severe @PHENOTYPICFEATURE$, and early death.	false
+171e4bb84c0eb330d4017255284d633efba38648	Speech inconsistency is a core feature of CAS and is efficacious in differentiating between children with @DISEASE$ and @PHENOTYPICFEATURE$; however, sensitivity and specificity are stimuli dependent.	false
+2166c62662064c6b1484f72e139ae56ccc1df872	Speech inconsistency is a core feature of @DISEASE$ and is efficacious in differentiating between children with CAS and @PHENOTYPICFEATURE$; however, sensitivity and specificity are stimuli dependent.	false
+8d1e3477aa2af5b57fef5ac077254933613e7c75	@PHENOTYPICFEATURE$ was confirmed in 100%, family history of @DISEASE$ in 75%, LDL exceeding 115 mg/dL in 68% of the patients.	false
+8aba7ace67e6791aaefe8f0268b728342b9d2c6a	The identification of @DISEASE$ in this patient provides a novel explanation for the previously reported @PHENOTYPICFEATURE$ and expressive language disorder.	false
+48dfe2deea3c7755b54f4c0d135c163b5343d561	@PHENOTYPICFEATURE$ and DM were the two most significant independent predictors for @DISEASE$ in these patients.	false
+2e44efabd6a0235d124c9365419bb324f01dc757	In patients with @DISEASE$, @PHENOTYPICFEATURE$ hyperglycemia has a neutral effect on LV function during DSE.	false
+4b3ea7d6b801270798248d5e6f1591a7503f1d4a	More than one of every five patients with known @PHENOTYPICFEATURE$ and heart disease had occult @DISEASE$.	false
+82da53d591a411cb6a19ba2a3f57d35ca8218ff4	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) @PHENOTYPICFEATURE$-typical language (140), (c) speech delay-language impairment (70), and (d) idiopathic or neurogenetic @DISEASE$ (40).	false
+b8b650a9dc40a861134af4e953468fb0d6be3e86	The SRT was administered to 369 individuals in four groups: (a) typical speech-language (119), (b) speech delay-typical language (140), (c) @PHENOTYPICFEATURE$-language impairment (70), and (d) idiopathic or neurogenetic @DISEASE$ (40).	false
+269ca302c5fb72873eaeb6af0321af27a174d275	Premature @DISEASE$ is most frequently associated with smoking, @PHENOTYPICFEATURE$ and hyperlipidaemia.	false
+ee7fc78625709b12721fea4e45894a972d99fcc0	Populations included homozygous FH, heterozygous FH with concomitant coronary artery disease (CAD), severe @PHENOTYPICFEATURE$, and hypercholesterolemia at high risk for @DISEASE$.	false
+ae4f8d61b35722915f318c8279b448693e813fa0	Populations included homozygous FH, heterozygous FH with concomitant coronary artery disease (@DISEASE$), severe @PHENOTYPICFEATURE$, and hypercholesterolemia at high risk for CAD.	false
+b349b824a39258b45af6e975ca3f3707f72712f9	However, selected modifiable risk factors for @DISEASE$, such as hypertension and @PHENOTYPICFEATURE$, were equally frequent.	false
+d6eb3f390ff52fde75bbdfaf53f78f5a45360015	@PHENOTYPICFEATURE$ (@DISEASE$).	false
+72e8d7e3ff00efab00977dcf30e16a826edacdb7	The first patient had a history of metastatic @DISEASE$ resection and presented with trismus and @PHENOTYPICFEATURE$; the second and third patients had first presentation with nasal congestion and facial numbness, respectively.	false
+b310e399c2c1cb49bfb8a8c7df285cd6f2abf44a	The case of a 41 years old man presenting with @DISEASE$ associated with @PHENOTYPICFEATURE$ (Fahr's disease) neurosensorial and endocrine-deficits is reported.	false
+1bcdfbc6edac806c171a335b8dd61a621313074a	The review suggests that the following should be regarded as associations of @DISEASE$ and progressive external ophthalmoplegia (a) diabetes mellitus (b) cataracts, in which calcium deposits may, like @PHENOTYPICFEATURE$, be due to abnormal calcium metabolism.	false
+d17c9e52ab79ab9a0dcd499a27812b33a78421e3	Lactic acidemia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4a804ead42a2f26c2aecb3cf9e6e17be595cfe2a	The final diagnoses were: ocular @PHENOTYPICFEATURE$, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, @DISEASE$, oculopharyngeal muscular dystrophy.	false
+34da5c07f0e4aa19c2e251756695817687ecbe0c	These conditions occur in chronic progressive external ophthalmoplegia, oculopharyngeal muscular dystrophy, @DISEASE$, myotonic dystrophy, and ocular @PHENOTYPICFEATURE$, among others.	false
+9a204aa2a39f3f1b79eef67f64a794f1011289f7	Subsequent multi-system manifestations included @PHENOTYPICFEATURE$, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with @DISEASE$ 13 years later.	false
+e13136f694773826895e0b20f411ee4c39ee47ac	Multiple studies report promising preliminary data regarding the safety and efficacy of DBS for a variety of neurological indications including chronic pain, @PHENOTYPICFEATURE$, epilepsy, Tourette syndrome, @DISEASE$, tardive dyskinesia and Alzheimer's disease.	false
+ae573d349a65805d7f631185f0d0e8e8bc2b5342	No studies met eligibility criteria for cerebral palsy, dystonia, @DISEASE$, @PHENOTYPICFEATURE$, muscular dystrophy, spina bifida, or Tourette syndrome.	false
+aa73e2b1066c996dc6c26bc25eae2142a13e0ef4	Such an electronic system can be applicable for several brain diseases such as @PHENOTYPICFEATURE$, Parkinson's disease, @DISEASE$, depression, and schizophrenia.	false
+eca1c59a02b9b7f0d50d57b7c0307d87d7ebdc0c	Cardiac Fas-dependent and mitochondria-dependent apoptotic pathways were activated in transgenic mice with @DISEASE$, which might provide one of possible mechanisms to explain why patients with Huntington's disease will develop @PHENOTYPICFEATURE$.	false
+826158007df2a835cac890889e308806e346a74d	Cardiac Fas-dependent and mitochondria-dependent apoptotic pathways were activated in transgenic mice with Huntington's disease, which might provide one of possible mechanisms to explain why patients with @DISEASE$ will develop @PHENOTYPICFEATURE$.	false
+bf161d95a68d06fcdaa3533d544ab4120c15385c	Dysregulated brain creatine kinase is associated with @PHENOTYPICFEATURE$ in mouse models of @DISEASE$.	false
+102d7d937256a396f5b6872de3c30604bfd74459	@PHENOTYPICFEATURE$ is often observed in aging patients with @DISEASE$ (HD).	false
+df5d4c9d63364c19426c80fe8b4e25d6f88d34e4	It seems, that from this point of view subarachnoical hemorrhagy, meningitis, @PHENOTYPICFEATURE$, Alzheimer's, Parkinson's and @DISEASE$, multiple sclerosis and probably schizophrenia should receive a special attention.	false
+ada0de56add683ff419370f3f88898e41b7865fc	A case of simultaneously occurring @DISEASE$ and obstructive @PHENOTYPICFEATURE$ is presented.	false
+0e4f2eaea0b4d44f1e4be43c823efde506eb1521	First diagnostic applications of transcallosal inhibition in diseases affecting callosal neurones (multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$).	false
+1d77c057f37fef0d62b186699ac5e14f03bed8a8	A series of four patients with late onset @DISEASE$ presenting as levodopa responsive parkinsonism and cardiovascular @PHENOTYPICFEATURE$, initially misdiagnosed as multiple system atrophy (MSA) in three patients, is reported.	false
+de0f2090a93ed183f3c4430b0850eb999b4a1a05	To investigate the cause of vision loss in patients with ganglioside @DISEASE$, a newly described rare autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and @PHENOTYPICFEATURE$.	false
+b9fc7b66c490342d8af47698228a029afb1a6644	The combination of @PHENOTYPICFEATURE$ with @DISEASE$ is rare and has not, to our knowledge, been described previously.	false
+f2b578eb8df6d4519ce2e9641f558860e3ae733b	Combination of @PHENOTYPICFEATURE$ and @DISEASE$ in a 21-year-old male: a case report.	false
+91b3c272635bf25170c548f7574501ad64b1ee14	Clinical manifestations vary and include myotonia, hyperkalemic and @DISEASE$, progressive myopathy, and @PHENOTYPICFEATURE$.	false
+634c6768eac39246809e3461beeaf00d374d3edd	@DISEASE$ (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower @PHENOTYPICFEATURE$ genitalia and underdeveloped pelvis.	false
+84845979dc265e04e3e1486a7d2ab6d50a0c7fd8	Atypical @DISEASE$ associated with defective @PHENOTYPICFEATURE$.	false
+397d47c43a1aebd4cc5beb300e4271851ff151ac	We present a patient with clinically relevant manifestations of @DISEASE$, with genetic verification, impacting by way of airway compromise due to hamartomas, @PHENOTYPICFEATURE$, and insular thyroid cancer.	false
+e1a1b8eb19e8e4860c084d25b5501ead3648974e	These diseases include dilated cardiomyopathy with variable @PHENOTYPICFEATURE$, Dunnigan-type @DISEASE$, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome.	false
+59134deb51390b38774f6d477043098deb7459fe	A collodion baby with @PHENOTYPICFEATURE$, limb anomalies, pachygyria and genital hypoplasia: a mild form of @DISEASE$ or a new entity?	false
+66b5ee4a3a70128229d14a1c96dbe1f75c81fbf9	@DISEASE$ (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, @PHENOTYPICFEATURE$ features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities.	false
+8e39b3d70214a67ec6230e9986d98227659a56eb	There were no significant demographic or comorbidity differences with the exception that @DISEASE$ patients had more episodes of @PHENOTYPICFEATURE$.	false
+be34ed22aa13d7bc6f3744d82f5833fefbd6df70	Because @DISEASE$ (FH-II) includes @PHENOTYPICFEATURE$ formation, we examined the karyotypes of benign adrenocortical aldosterone-producing adenomas (APAs), including those from patients with FH-II.	false
+76522e5d14326a909becb57f7d4df3aa657edbb3	We collected patients undergoing acute PCT for the suspicion of acute ischemic stroke (@DISEASE$), who received a final diagnosis of focal seizures or @PHENOTYPICFEATURE$ with a post-ictal deficit, with or without concomitant AIS.	false
+42aa498ea6262ed019b1cc7d1437f3d7c47e5f43	The most common cause of @DISEASE$ is the wet lung: the more the congestion burden, the more the extent of the B-lines, which become confluent until the so-called white lung in case of @PHENOTYPICFEATURE$.	false
+fc09886ca52c63783caca8e040d1b1168763fdf2	Several observations suggested that atropine-induced spiking (@DISEASE$) and amygdaloid kindled seizures may share common neuronal mechanisms: (a) PRC atropine infusions occasionally resulted in the development of @PHENOTYPICFEATURE$ resembling those produced by amygdaloid kindling and which were accompanied by simultaneous discharge recorded from the PRC and amygdala, and (b) concurrent low amplitude spiking was occasionally recorded from the amygdala during non-seizure inducing infusions.	false
+91947c6559885ff1d9f84e964be030b7b2902df0	We report a case of @DISEASE$ (MPM) in a 31-year-old male with history of cerebral palsy, @PHENOTYPICFEATURE$, and ventriculoperitoneal shunt (VPS) placed since infancy.	false
+de20ebd71b3472eaa48ee1c402aa5d7249e6a8cd	In conclusion; we provide further evidence that @DISEASE$ is a RSPRY1-associated @PHENOTYPICFEATURE$ with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.	false
+45c52bd1bc863fdca0f9e0d42125d9dd25a75dc5	We also identified that loss-of-function mutations in human SLC35D1 cause @DISEASE$, a severe @PHENOTYPICFEATURE$.	false
+c0be33d74ae25f80eae75cc921ebd6a12e156c26	The clinical, radiographical and histological features are described for a case of @DISEASE$, presenting antenatally with increased nuchal thickness and severe @PHENOTYPICFEATURE$.	false
+a886ad040b2c89e4c4cb89915b0beb6ed67e9831	We report the case of a newborn with a lethal newborn @PHENOTYPICFEATURE$, in whom skeletal and morphologic findings resembled those in @DISEASE$ except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent.	false
+9e01a7e412d7d0c038990edb78ed9eeff3c88cf4	Prospective longitudinal assessment of @PHENOTYPICFEATURE$ with hyperfractionated radiation therapy alone in patients with average-risk @DISEASE$.	false
+863698ffe672d8393adaa4cf0f5cfd428976d5cc	To identify a gene linking @PHENOTYPICFEATURE$ with cyst with early onset @DISEASE$.	false
+31c4f88b34c84b5116a7727a6262fca4a56c398d	Less well described complications are ovarian calcification or fibroma (24%), @DISEASE$ (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as @PHENOTYPICFEATURE$ or cataract (26%).	false
+960e42edefbfc7b3076a23b13eb34c02bbe6af5a	Less well described complications are ovarian calcification or fibroma (24%), @DISEASE$ (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or @PHENOTYPICFEATURE$ (26%).	false
+4ea530e0ca634ff77e16bade2e5687f0006d62a1	Isolated @PHENOTYPICFEATURE$ as initial presentation of recurrent @DISEASE$: neuroimaging and audiologic correlates.	false
+78ae02429467202bc5be75fdefdb61441b9cdb8d	The pathologic diagnosis was amended after genomic profiling for 6 patients (19%), including a high-grade glioma to pilocytic astrocytoma, medulloblastoma to @PHENOTYPICFEATURE$, ependymoma to high-grade glioma, and @DISEASE$ to CNS high-grade neuroepithelial tumor with BCOR alteration.	false
+5cc9efec9790de9b9010fa317e8d80e3033ab8e8	The pathologic diagnosis was amended after genomic profiling for 6 patients (19%), including a high-grade glioma to pilocytic astrocytoma, @DISEASE$ to @PHENOTYPICFEATURE$, ependymoma to high-grade glioma, and medulloblastoma to CNS high-grade neuroepithelial tumor with BCOR alteration.	false
+e24e7697b982a45dc15bba9ab8d8e15d1d187edf	Genomic profiling was performed on 31 patients with tumors including 11 high-grade gliomas, 8 @DISEASE$, 6 low-grade gliomas, 1 embryonal tumor with multilayered rosettes, 1 pineoblastoma, 1 uveal ganglioneuroma, 1 @PHENOTYPICFEATURE$, 1 chordoma, and 1 high-grade neuroepithelial tumor.	false
+3433ee7e5df7958553e42317b041bebcabc1ff55	Miscellaneous brain abnormalities were found: one patient had a @DISEASE$, three had cortical malformations, and five demonstrated "minor" abnormalities such as dilated Virchow-Robin spaces or @PHENOTYPICFEATURE$.	false
+9c3ed73e677a3641b9a0857c0a39f492c86dafee	To report on @PHENOTYPICFEATURE$ (SNHL) in a cohort of patients treated with hyperfractionated radiation therapy (HFRT) without upfront platinum-based chemotherapy in average-risk @DISEASE$.	false
+190d950722e55aed72dd99151818425164f784b7	Histologies included neuroblastoma (30%), osteosarcoma (18%), @PHENOTYPICFEATURE$/lymphoma (12%), rhabdomyosarcoma (12%), @DISEASE$/ependymoma (12%), Ewing sarcoma (8%), and other (8%).	false
+143dfc83709d33b6882d3b439b20425ff22527ca	We report the case of an 8-year-old boy who presented with a 2-month history of headaches and mild @PHENOTYPICFEATURE$ and was found to have a @DISEASE$ with primary leptomeningeal involvement.	false
+c66c9607d8d27c939271f744d06875d53c428068	@DISEASE$ are rare congenital teratomas that can occasionally rupture and cause chemical meningitis, neurological deficit, or @PHENOTYPICFEATURE$.	false
+665f5f4be95f571bf7920de2624adbe169d1ab98	@DISEASE$ are never associated with edema and extremely rarely cause obstructive @PHENOTYPICFEATURE$.	false
+1b9d829303d5bc69b98dc6690ff8debfb91848a0	Her gross @PHENOTYPICFEATURE$ was in part due to a massive @DISEASE$ weighing at least 42 kg, which had been overlooked in the past.	false
+221c345eabe0f962e69e9f659b4a622722b38f77	These findings led to diagnosis of typical @DISEASE$ (CIDP) with notable feature of postural finger tremor and @PHENOTYPICFEATURE$ of unknown cause.	false
+5094e100e8945e2b66b377f5c7b5bd2eb5573012	Patients with @DISEASE$-MGUS had less severe weakness, greater imbalance, leg @PHENOTYPICFEATURE$, vibration loss in the hands, and absent median and ulnar sensory potentials, but were as likely as CIDP-I patients to respond to plasma exchange.	false
+aac5445136d8a4ae34a3f5682e72634ad1c00d05	The patient presents wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, coloboma of the upper lids, proptosis, @DISEASE$, broad nose, syndactyly between fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes with @PHENOTYPICFEATURE$, hypospadias with cleft glans, bifid scrotum.	false
+2508f07498345508de9b4244325678f2aa6060bb	Other findings included inguinal hernia, hypothyroidism or persistent hyperthyrotropinemia, cryptorchidism, hip dysplasia, growth hormone deficiency, cloudy cornea with @DISEASE$, neonatal teeth, cardiac defects, @PHENOTYPICFEATURE$ and seizure disorder.	false
+ce2531528f5eb1923552b69bcfda03d4a53b3269	Three patients with hallucal @PHENOTYPICFEATURE$ and @DISEASE$, including discordant expression of Wilms tumor in MZ twins.	false
+360798b36c22e665d2dcdc78f7ea6b09ddd251ab	In the case presented, a woman with a clinical history of @DISEASE$ who had previously undergone a total colectomy with ileorectal anastomosis presented to the hospital with a recent history of sore throat, @PHENOTYPICFEATURE$, diarrhea, and abdominal pain.	false
+6504a20582295391c4265d5243f484b7250ae5de	We conclude that cytogenetic analysis is of no value in the management of families with typical familial adenomatous polyposis or @DISEASE$, and should be confined to those families with atypical features such as mental retardation or @PHENOTYPICFEATURE$.	false
+6814271c92b1585fa0c3bf584882020cdbce180e	The survey revealed three main causes for the attacks, of which the first was insulinoma, the second extrapancreatic @PHENOTYPICFEATURE$, and the third was @DISEASE$ (IAS), in descending order.	false
+e6bc140119de5bab4e9ebac9e5dce666d116b220	Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, @PHENOTYPICFEATURE$, @DISEASE$, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and familial exudative vitreoretinopathy.	false
+f4b2d7f225c2806f1ff24da92eec2ef1dfb90c8f	The first family (F1) presented with foveal hypoplasia and @DISEASE$, and the second family (F2) presented with foveal hypoplasia and chiasmal misrouting in the absence of @PHENOTYPICFEATURE$.	false
+77523053fd7b71823add241a120ba30c3f244e1a	@DISEASE$ is an extremely rare form of type II collagenopathy associated with cleft palate, micrognathia, shortened trunk, arms and legs, and @PHENOTYPICFEATURE$.	false
+e7c9aff113bf58c656ab45185502879081457b9c	Idiopathic congenital central hypoventilation syndrome (CCHS) is an unique disorder of respiratory control, occurring in association with Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$ of neural crest origin, and symptoms of autonomic nervous system dysfunction (@DISEASE$).	false
+32f086453f1a802a463f580722ae63ce428e4143	Trigonelline has hypoglycemic, hypolipidemic, neuroprotective, antimigraine, sedative, memory-improving, antibacterial, antiviral, and anti-@PHENOTYPICFEATURE$ activities, and it has been shown to reduce diabetic @DISEASE$ and platelet aggregation.	false
+dfc3e0632847c628ad481e3231956fa08c07ff96	This is an extremely rare clinical condition that presents with an @DISEASE$, bulbar palsy, stridor, @PHENOTYPICFEATURE$, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis.	false
+4f24288d9e3f27e3c21b276af4474d222be36485	The causative disease for hearing loss was identified in 11 of 12 patients; intracranial lesions including nonbacterial meningitis, meningeal metastasis of lymphoma, and superficial siderosis in 4 patients, systemic @PHENOTYPICFEATURE$ in 2, @DISEASE$ in 1, and an isolated inner ear disorder in 4. Relatively rapid hearing deterioration within 2 months showed a significant association in six patients with an intracranial lesion or systemic vasculitis.	false
+74feb70d893518ffd16bb160c97aa42113aaaf7a	To investigate whether the aetiology for hearing impairment in neonates with unilateral @DISEASE$ could be explained by structural abnormalities such as cochlear nerve aplasia, a cerebellopontine angle @PHENOTYPICFEATURE$ or another identifiable lesion.	false
+453a0f6b2d4ac11b0021d3bed55fe8de0467b022	Hearing impairment can be caused by a primary lesion to the spiral ganglion neurons (SGNs) with the hair cells kept intact, for example via @PHENOTYPICFEATURE$, trauma or @DISEASE$.	false
+9aa7dfb8c6c149693bb23f11957a5c14bc598afa	Because of his peculiar face, @PHENOTYPICFEATURE$ V and fingertip pad, we diagnosed him as having @DISEASE$.	false
+3c81875a7ecea3f2ea2daa9d759194939398f0e6	Common hand anomalies associated with @DISEASE$ include persistent fingertip pad, @PHENOTYPICFEATURE$, clinodactyly, and lax joints.	false
+84583189193d7c3759f4e0a8350135f65ba07d15	@DISEASE$ (KS) is a rare multi-system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning @PHENOTYPICFEATURE$.	false
+16a085bfb701429ff598bf7ba312db4f931b2048	Unusual symptoms, such as @PHENOTYPICFEATURE$ and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany @DISEASE$.	false
+06bcc545f93d914b69b22c5e7a014230f74fd974	Cenani-Lenz @PHENOTYPICFEATURE$ in a patient with features of @DISEASE$.	false
+c9efee35d8915aedb71144ba2c5a1a002c04d7e6	Studies have demonstrated @PHENOTYPICFEATURE$ in patients with developmental encephalopathies, such as autism, mental retardation, and @DISEASE$.	false
+4e2a3114b1c327509885eba11f388e893f733a5d	Skin injuries and @PHENOTYPICFEATURE$ of the upper extremities were observed in 41% and 49% of individuals with @DISEASE$, respectively.	false
+1c63a82f51a012f3ea95c4e22b31ee4560f8fa12	Other clinical situations where the EEG offers diagnostic and prognostic information, such as subacute sclerosing encephalitis, progressive @PHENOTYPICFEATURE$ epilepsies, @DISEASE$, and Lennox Gastaut syndrome are also discussed.	false
+0b1a59c48d3416e385cf59e600efae69f5ac20a4	The purpose of this study was to investigate the incidence and type of skin injuries and @PHENOTYPICFEATURE$ of the upper extremities in individuals with @DISEASE$.	false
+34f42cb59557a18386907f4dbf3fa5e04b4126a4	Skin injuries and @PHENOTYPICFEATURE$ of the upper extremities in @DISEASE$.	false
+407b88c36d50084f5b6b70a0271132d65364cba9	The factors that decrease stereotypies could be useful to prevent the skin problems or @PHENOTYPICFEATURE$ observed in patients with @DISEASE$.	false
+ec32ca9bd5042a5d35627aabe797e6bd80461144	We describe a girl with a brain-stem @PHENOTYPICFEATURE$ and symptoms very similar to those of @DISEASE$ (RS).	false
+e20eb7991946a0868bc8830545015247d1c9d942	Myoclonic jerks and @PHENOTYPICFEATURE$ status (MS) are sometimes difficult to distinguish clinically from movement disorders such as hand stereotypies, tremor, and dystonia in @DISEASE$.	false
+1c62c1c848f11ab0bf4e4a17a33d7dda2d51bd2c	The Meningitis-@DISEASE$ associates aseptic meningitis and @PHENOTYPICFEATURE$, with a vesical dysfunction that outlasts meningitis widely.	false
+6d7a209d2f6043382a56b9c003a936990f403da2	They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with @DISEASE$, some of the progressive @PHENOTYPICFEATURE$ epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene.	false
+53296f64113de998beaf9afa567f2c12f7b07545	@DISEASE$ diarrhea, symptoms included abdominal pain, @PHENOTYPICFEATURE$, bloating, flatulence, edema and others.	false
+6a5ad2347b1bc58aabaa2a972d7cc56d55b0967d	To investigate acoustic function of Asidan/@DISEASE$ (SCA36) in which @PHENOTYPICFEATURE$ may be found as one of extracerebellar symptom that can be a distinguishable feature from other degenerative ataxias.	false
+66f53f5593343d2526bfe5566921fd0b6e597482	@DISEASE$ with associated @PHENOTYPICFEATURE$ in a female case.	false
+3f99471f47cb0daa45b5060bd8d398499454863a	Pathological examination demonstrated muscular dystrophy, @PHENOTYPICFEATURE$, type II @DISEASE$ and defective eye development of foetal origin.	false
+fe7064de9749461c8e83101a8bd78dffe43e6395	The diagnosis of @DISEASE$ should be considered in young people presenting with stroke-like episodes that fail to conform to a given vascular territory, particularly if they have long-standing minor @PHENOTYPICFEATURE$ or a family history of obscure early onset neurological disease.	false
+6e989cfe1a5f107157e503d82766c1af732accd0	@DISEASE$, cardiomyopathy, rhabdomyolysis, and @PHENOTYPICFEATURE$ associated with the A3260G mitochondrial DNA mutation.	false
+ced9c697d79a1f414b34a9f601d6667eaad00305	Patients with WPW syndrome and @PHENOTYPICFEATURE$ consistent with @DISEASE$, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+3aa8f6099aa9ea6fd9d3653797f184cb02834230	@DISEASE$ (CMT4C) is an autosomal recessive @PHENOTYPICFEATURE$ reported in several Algerian families.	false
+b67c3124f9a31052505219c48fe4c6112349608c	Mutations in the functionally uncharacterized protein SH3TC2 are associated with the severe hereditary @PHENOTYPICFEATURE$, @DISEASE$ (CMT4C).	false
+77504795a9ee4ed3db808b11e60b276868b3aeea	A severe proximal @PHENOTYPICFEATURE$ was observed in 4 cases and one patient has presented an @DISEASE$.	false
+d8d56ec9923e89e13a67267d534dd996a70bfe1e	In addition, there were six patients with @DISEASE$ who had @PHENOTYPICFEATURE$ of unknown primary, and eight patients with cancer-associated amyopathic dermatomyositis for whom no additional details were provided.	false
+98acaf4030a8aaff0cf4e855fb4d8741593984c6	We present three patients with @DISEASE$, two males aged 27 and 45 and a female aged 54, the latter associated with a malignant process, and we discuss and review the main differential features of the entity and its relationship with different types of @PHENOTYPICFEATURE$.	false
+77cba2bab9d846882d4f5d3b9836a79324945ff1	@PHENOTYPICFEATURE$ calcium deposits observed in daughter was diagnosed as dystrophic calcinosis which can be rarely seen in juvenile-onset @DISEASE$.	false
+eccccecdc16ebaa96e42f7977a7d3afada6acad2	Transient elevation of the @PHENOTYPICFEATURE$ markers CA 15-3 and CASA as markers of interstitial lung disease rather than underlying malignancy in @DISEASE$.	false
+894ac0ec9afd21e8ace83d0a2f4b61eab2f83680	Data were obtained from medical records of 109 patients who were classified into five groups: 23 juvenile dermatomyositis; 59 primary idiopathic dermatomyositis; 6 @DISEASE$; 7 dermatomyositis associated with @PHENOTYPICFEATURE$ and 14 dermatomyositis associated with other connective tissue diseases.	false
+22cb4970f154b7063beb38889e7962aea11a11bc	The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial hyperlipoproteinemia type IIa, III, and V, cerebrotendinous xanthomatosis, @DISEASE$, Tangier disease, Hand-Sch?ller-Christian disease, and normolipidemic cutaneous @PHENOTYPICFEATURE$, revealed lipid vacuoles, either membrane-bound or with no single unit membrane, cholesterol crystals, multivesicular or multilocular lipid bodies, myelin-like bodies, and ceroid granules (residual bodies).	false
+532f8c019a5e26aecc8b163537a9d37134c6b394	@PHENOTYPICFEATURE$ and hypotension may occur during and after @DISEASE$.	false
+20fe919da6cf38bfc29fbb7b8191f3fd2a41b7a8	@DISEASE$ was evenly distributed among patients with @PHENOTYPICFEATURE$, incompetence and mixed aortic valve disease.	false
+803a2abb8faca465331e39346b07aa4cf1d9004e	Out of the 89 patients who delivered @PHENOTYPICFEATURE$ infants, 73 exhibited abnormal @DISEASE$ activity patterns.	false
+d7208de7ca69c6673c4043f082ac4bdecfb2a038	To investigate the association of @PHENOTYPICFEATURE$ hypopnea syndrome (OSAHS) with coronary atherosclerotic disease (@DISEASE$).	false
+34a7cdca8d37b4e032b1e397448e1548397a76de	Childhood @PHENOTYPICFEATURE$ (@DISEASE$) affects a child's ability to produce sounds and syllables precisely and consistently, and to produce words and sentences with accuracy and correct speech rhythm.	false
+0bd24d803bb454c75c5d172057b87df1295fe61d	@PHENOTYPICFEATURE$ hypoxia syndrome (OSAHS) is an independent risk factor for coronary artery disease (@DISEASE$).	false
+c9775e49f89353fcc923f1bac1b195336a05c1d9	Coronary artery disease (@DISEASE$) is a highly considered dangerous disease which may lead to myocardial infarction and even @PHENOTYPICFEATURE$.	false
+d32253e4105b4447cddc69d5da4925a01438e1d8	Periprocedural @PHENOTYPICFEATURE$, hypotension, and the need for vasopressors occur more frequently with primary @DISEASE$ than with redo CAS procedures.	false
+3e58acc38e204cbdbbd7bc2ec1457d88c1cba31a	@DISEASE$-deficient embryos died in utero showing marked systemic congestion and @PHENOTYPICFEATURE$.	false
+c5a9ed6565cc9edc0ec7be822d5cc9af7fe18830	In 70% of @PHENOTYPICFEATURE$ @DISEASE$ deafness is the only symptom of the disease and is thought to be non-syndromal.	false
+2b785d0d1e62355a2ca366c8d6a6f49466327bd1	In 70% of deafness @DISEASE$ @PHENOTYPICFEATURE$ is the only symptom of the disease and is thought to be non-syndromal.	false
+408503b79777fbc67e4e81a09151e6d1da29ec21	@DISEASE$ is characterized by the triad of deficient abdominal musculature, @PHENOTYPICFEATURE$ and cryptorchidism.	false
+8d39b0d5833f480db25df2f3ef0be005d75db05a	@DISEASE$ (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, @PHENOTYPICFEATURE$, and cryptorchidism in males.	false
+a555624aee7cff77150d5b00bc6c557e0b1d8cbc	Prune belly syndrome (PBS), also known as @DISEASE$, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, @PHENOTYPICFEATURE$, and cryptorchidism in males.	false
+e99741004d1b95c19a76f0df3099276a26c99c7f	@DISEASE$ (EBS) is characterized by the triad of abdominal muscle deficiency, @PHENOTYPICFEATURE$, and cryptorchidism.	false
+84aa88b5c50c797123cb32c2de5f930bb84429ae	Abdominal muscle deficiency, @PHENOTYPICFEATURE$, and cryptorchidism are the three major features of the prune-belly syndrome, also referred to as @DISEASE$ or Eagle-Barrett syndrome.	false
+7ecf15193f8f847706d3c964a1311715ec5480ff	Abdominal muscle deficiency, @PHENOTYPICFEATURE$, and cryptorchidism are the three major features of the prune-belly syndrome, also referred to as triad syndrome or @DISEASE$.	false
+5b2f46af3cfb845a20b9272a1e6d3ea379cfe6f7	The selected anomalies include renal anomalies, @PHENOTYPICFEATURE$, the exstrophy complex, urogenital anomalies, ambiguous genitalia, posterior urethral valves, scrotal anomalies, spina bifida, and common urologic syndromes such as the @DISEASE$.	false
+060d6d11418287f055f34a8d5c2dddcdb13b6289	The selected anomalies include @PHENOTYPICFEATURE$, tumors, the exstrophy complex, urogenital anomalies, ambiguous genitalia, posterior urethral valves, scrotal anomalies, spina bifida, and common urologic syndromes such as the @DISEASE$.	false
+b31c2fa7f431788eadfb87b6222f14438ee71c92	Sixty-five percent of @DISEASE$ patients had osteopenia or @PHENOTYPICFEATURE$ and 59% of AIS patients had high values for TRAP5b.	false
+76502b56f99da75a4254b5f56006e2992acd9cde	Sixty-five percent of AIS patients had osteopenia or @PHENOTYPICFEATURE$ and 59% of @DISEASE$ patients had high values for TRAP5b.	false
+6e17b93d82c710c7955f37f7f8bb8adc85a119c0	Sustained immunity to both AI and @DISEASE$ neither changed preoperative blood pressures of the rats from those of control mock-immunized rats nor altered the incidence or severity of renal dip @PHENOTYPICFEATURE$.	false
+6d578de0e1e8b48ebdde556a3deb276456c73585	In the present studies, BRODERICK PROBE(?) laurate biosensors and LDF laser sensors are placed in dorsal striatum (DStr) dopaminergic motor neurons in basal ganglia of brain in living animals; basal ganglia influence @PHENOTYPICFEATURE$ such as those correlated with @DISEASE$.	false
+252cd03e913ac2b8828d8b2521a3701ba2340b4b	The problematic internet users scored significantly higher on scales measuring sleep problems (@DISEASE$, 8.8 for problematic internet users vs 6.3 for normal internet users, p?<?0.001), depression (BDI, 27.4 vs 18.3, p?<?0.001), trait anxiety (STAI, 61.8 vs 53.9, p?<?0.001), ADHD (ASRS, part A 3.1 vs 1.8 and part B 3.5 vs 1.8, p?<?0.001), @PHENOTYPICFEATURE$ (AQ, 25.9 vs 21.6, p?<?0.001), OCD (OCI, 63.2 vs 36.3, p?<?0.001), SAD (LSAS, 71.4 vs 54.0, p?<?0.001), and impulsivity (BIS, 67.4 vs 63.5, p?=?0.004).	false
+2274041f25aae3d2fb088dbd5332f0ec6a6ee44e	Regional brain volume difference in @DISEASE$ subjects may help to explain @PHENOTYPICFEATURE$ in this group.	false
+7777247a5db7740ec8b0c75e1bb3091cb5c3d487	Severity and type of scoliosis and chest deformity were measured using radiographs, and relations between @PHENOTYPICFEATURE$ and @DISEASE$ were analyzed.	false
+1ea36b4b741cd84fd56e86f3f435f16e507fb32c	The following ocular complications were recognized in 31 patients: retinal microvasculopathy (11 cases), CMV retinitis (10 cases), inactive inflammatory changes (6 cases), iritis/vitritis (5 cases), @PHENOTYPICFEATURE$ (2 cases), papilledema (2 cases), ocular tuberculosis (1 case), progressive outer retinal necrosis (1 case) and conjunctival @DISEASE$ (1 case).	false
+cbbd6d3b77359e6dcbab6c8bc374b3475e773a19	We conducted a cohort study of the 1800 adult patients who initiated ART at the Haitian Study Group for @DISEASE$ and Opportunistic Infections (GHESKIO) in Haiti from 2003 to 2006, using baseline data to establish the prevalence and using follow-up data to establish the incidence of hepatitis, renal insufficiency, @PHENOTYPICFEATURE$, anemia, neutropenia, and thrombocytopenia.	false
+cdd00569232fe712035047d005bb44a5f838ba18	Recently, NAA10 germline variants were found in patients with the X-linked lethal @DISEASE$, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and @PHENOTYPICFEATURE$.	false
+4cdfb142a14590c841e64ec74dac0853872b325a	Torsade de Pointes during oral arsenic trioxide therapy for @DISEASE$ in a patient with @PHENOTYPICFEATURE$.	false
+96106c3ee5438707c1bdcc3505342e1639674e3a	Combination of all-trans-retinoic acid and gemtuzumab ozogamicin in an elderly patient with @DISEASE$ and severe @PHENOTYPICFEATURE$.	false
+995018c6e574019b8ba922daf212f770adf69ba7	@PHENOTYPICFEATURE$ during induction with anthracycline-based therapy in patients with @DISEASE$.	false
+410f77c336b8902b3c75292fa2e5e4fa78b4ee1b	We describe three cases of @DISEASE$ (APL) with long-term disease-free survival who developed @PHENOTYPICFEATURE$ (CHF) requiring cardiac transplantation.	false
+23b2bf1619a54e691f548a78bf718701c875b89b	We interrogated The Cancer Genome Atlas for transcriptional signatures and mutations enriched in @DISEASE$ and/or @PHENOTYPICFEATURE$ and confirmed correlation between body mass and FLT3 mutations in promyelocytic leukemia cohorts by logistic regression.	false
+15efe9862c5c703143c520efa0e034823182971b	We interrogated The Cancer Genome Atlas for transcriptional signatures and mutations enriched in promyelocytic leukemia and/or @PHENOTYPICFEATURE$ and confirmed correlation between body mass and FLT3 mutations in @DISEASE$ cohorts by logistic regression.	false
+e800a532d7107c3b1620efe3b51f6125b16685d3	To evaluate the relationship between @PHENOTYPICFEATURE$ and clinical outcome, disease-free survival (DFS) and overall survival (OS), in patients with acute myelogenous leukemia (AML), including @DISEASE$ (APL), we performed a pooled analysis of four CALGB (Alliance) clinical trials.	false
+ee3395a75cdef14ec3ea4bba8179fcd4d29d510b	We performed a case-control analysis to study the rate of @PHENOTYPICFEATURE$ among patients with @DISEASE$ (APL) and non-APL AML.	false
+ba0dd9a9c6ffa327f498c6e8ee6e808f2c4ca5e4	The @DISEASE$ protein is upregulated in conditions of @PHENOTYPICFEATURE$ and liver steatosis.	false
+c988bab5cc10a6fca33f5e6d14117a7247f5451e	Sudden @PHENOTYPICFEATURE$ in a beta-thalassemia major patient receiving chemotherapy for @DISEASE$.	false
+7cc5419fd05cc33e39e1eb55cb8a5f817267af94	Doxorubicin-associated delayed @PHENOTYPICFEATURE$ in @DISEASE$.	false
+44fa913014822976433e3b6c708ece19a1c4bed5	inhibited the growth of HEC-1A, RL-95-2 and @DISEASE$CA @PHENOTYPICFEATURE$ while AN-201 was ineffective.	false
+363e690e4c137a78be95c88461761b6a5bb0c794	The authors demonstrated the presence of mRNA and receptor protein for sst(2a) and sst(5) on HEC-1A, RL-95-2, and @DISEASE$CA @PHENOTYPICFEATURE$.	false
+293642ba588b8e49069ba628fdd4921d5d77658c	Nude mice bearing HEC-1A, RL-95-2 and @DISEASE$CA @PHENOTYPICFEATURE$ were treated with AN-215 and its cytotoxic radical (AN-201).	false
+1b256f69e0173204c771ec58fe0d9466a76c0381	The @DISEASE$ is characterized by cutaneous @PHENOTYPICFEATURE$ and visceral malignancies.	false
+5ba883e0eb8ac3bd04b4dddd558fef1762718c5b	Cutaneous sebaceous @PHENOTYPICFEATURE$ as markers of @DISEASE$: a diagnostic algorithm.	false
+55179e30a1db185429b2857ac5cdeba52f862c4b	Genitourinary @PHENOTYPICFEATURE$ in men with the @DISEASE$.	false
+c74494b5f06f58500dbecc30b2f3bf63456a9dc1	All patients with sebaceous gland tumors of the type associated with Muir-Torre syndrome warrant consideration of @DISEASE$ and appropriate workup to detect asymptomatic malignant visceral @PHENOTYPICFEATURE$.	false
+63c51f9b4c13b802064b53825448c283dba1df19	All patients with sebaceous gland tumors of the type associated with @DISEASE$ warrant consideration of Muir-Torre syndrome and appropriate workup to detect asymptomatic malignant visceral @PHENOTYPICFEATURE$.	false
+32d91457e806ba297740638a4969d2f955755804	DNA image cytometry in sebaceous @PHENOTYPICFEATURE$ of the @DISEASE$.	false
+6524150bd5f381abee0c9e5693fd4676e9616ea6	@DISEASE$ with multiple @PHENOTYPICFEATURE$.	false
+e5898fa27dc3b6603293e93711937a65a38918aa	Because these @PHENOTYPICFEATURE$ are uncommon, differential diagnostic considerations and the exclusion of @DISEASE$ are emphasized.	false
+6e0f9428dec204457e32eb67d9beedd6b06b1aaf	Sebaceous @PHENOTYPICFEATURE$ and the @DISEASE$: important connections with clinical implications.	false
+c1d7cccdd4ce743e095c2d44886d7c852fc698c2	Most such @PHENOTYPICFEATURE$ have been described in patients with @DISEASE$ (MTS).	false
+b56ffbcb5c54aaba1bbedd14f5e15d148020f339	Widespread microsatellite instability in sebaceous @PHENOTYPICFEATURE$ of patients with the @DISEASE$.	false
+bb49c0d23a5802ac57f9ae1a8095f8ca91d6c05c	Moreover, one proband was identified with @DISEASE$ and carried a de novo @PHENOTYPICFEATURE$ of M918T.	false
+23db39744e3097cc68fbb1816a6d4ef610c2f27b	Chronic diarrhea and @PHENOTYPICFEATURE$ in children--a clue to @DISEASE$ syndrome: a case report.	false
+0d8f0f6314876a0b92977482ebeeb6478e1a04fb	Moreover, we introduced the dominant @PHENOTYPICFEATURE$, responsible for the @DISEASE$, in the catalytic domain of the Ret chimera.	false
+dcd7953a490f4b715cf4c897e2f31b23a27a1f5e	Antley-Bixler syndrome (@DISEASE$, MIM 207410) is a @PHENOTYPICFEATURE$ syndrome primarily affecting head and limbs.	false
+5d4661a6372c6c93598eecf9ba30e1f8d1cdc440	microdeletion syndrome, and four patients also had severe @PHENOTYPICFEATURE$ for which they were originally diagnosed with amniotic band sequence (@DISEASE$).	false
+a15d21ed0b95da4f332288cc7510c217d18e7bd1	Delinquent behaviour was assessed with the Antisocial behavior scales (@DISEASE$, Schawb-Stone et al., 1999) which include three subscales assessing behavior problems of different severity: conduct problems, assessing relatively mild @PHENOTYPICFEATURE$; less severe delinquency, assessing non-violent antisocial behavior; severe antisocial behavior, exploring relatively serious aggressive and antisocial behavior.	false
+baee5b22bd9cb61610a885c90a21e1bd3c249257	Association of CYPOR with @DISEASE$ discloses new facts about this disease and recent research shows that patients with ABS-like @PHENOTYPICFEATURE$, but with mutations in the POR gene and disordered steroidogenesis, represent a new disorder called POR deficiency.	false
+b6a8c5a7e6fdf2e47c1e176ce89ffc5b4498dd72	Association of CYPOR with ABS discloses new facts about this disease and recent research shows that patients with @DISEASE$-like @PHENOTYPICFEATURE$, but with mutations in the POR gene and disordered steroidogenesis, represent a new disorder called POR deficiency.	false
+e46e4f25c92bbbdade16c7bfda6147f466a68f25	In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric @PHENOTYPICFEATURE$, and review the literature of the variable atypical presentations of @DISEASE$.	false
+c463c47ebb89cb1cd902b342aa85860c5bd10f49	We report an infant girl, born to a consanguineous couple, with craniofacial and @PHENOTYPICFEATURE$, consistent with @DISEASE$, in addition to atresia of the esophagus and trisomy 21.	false
+c290b193d56fd97108249b5930a57be0a4159bb9	However, both of these changes improved Abe's Behavioral and Psychological Symptoms of @PHENOTYPICFEATURE$ scores (@DISEASE$), except ADL.	false
+8abe8f9682c0df17ac1b0f14285cbcb6ffe06b32	Thus, outside of the eye @DISEASE$E1 @PHENOTYPICFEATURE$ elicit a form of tumor immunity that is IFN-? independent.	false
+7cfeb99ba0a88a07e5bb022d5336d58d89a5660a	Thus, outside of the eye @DISEASE$E1 tumors elicit a form of @PHENOTYPICFEATURE$ immunity that is IFN-? independent.	false
+a46f750ed9c44a73232fa0b8f6abd3c177d93dfa	@DISEASE$E1 tumor antigen still reached the @PHENOTYPICFEATURE$-draining lymph nodes (DLNs) of mice locally depleted for macrophages.	false
+373617b95a1f0556aefd81254ede5594a67324ec	@DISEASE$E1 @PHENOTYPICFEATURE$ antigen still reached the tumor-draining lymph nodes (DLNs) of mice locally depleted for macrophages.	false
+857611d115ea154e9073daf13145bcd13894f7c9	However, it is not conclusive from these data exactly how @PHENOTYPICFEATURE$-specific CD4+ T cells and macrophages interact with each other to eliminate the @DISEASE$E1-AC tumor without any collateral eye damage.	false
+4d72fa9ab0d23f3ed598537968939e0da4fd3bd4	However, it is not conclusive from these data exactly how tumor-specific CD4+ T cells and macrophages interact with each other to eliminate the @DISEASE$E1-AC @PHENOTYPICFEATURE$ without any collateral eye damage.	false
+d74d631dab383a6b1b48e3580448f3c59ecd1d1f	We previously identified an @DISEASE$E1 @PHENOTYPICFEATURE$ clone in which the rejection is IFN-? dependent and culminates in the destruction of both the tumor and the eye.	false
+94235a469df2c142791d41eb88eff6aa3828640b	We previously identified an @DISEASE$E1 tumor clone in which the rejection is IFN-? dependent and culminates in the destruction of both the @PHENOTYPICFEATURE$ and the eye.	false
+9cc96c675371c1393b72a8d833550a96da9f7638	Although @DISEASE$E1 @PHENOTYPICFEATURE$ are not rejected when transplanted into the eyes of IFN-? KO mice, they are rejected after s.c.	false
+4ea54b4f28a099622c304eb4b3b55c45b4a279ab	In the Suit-2 subcutaneous xenograft model, expression of E1A was detected in Ad5MK-treated tumors, but not in untreated and @DISEASE$GFP-treated @PHENOTYPICFEATURE$.	false
+59a145c90df37a340eff87ababc56171256c42bc	In the Suit-2 subcutaneous xenograft model, expression of E1A was detected in Ad5MK-treated @PHENOTYPICFEATURE$, but not in untreated and @DISEASE$GFP-treated tumors.	false
+e12a1c0e15db5f95fea56065d504915596c4e44e	Macrophages also contributed to rejection, as they were present in intraocular @DISEASE$E1 @PHENOTYPICFEATURE$, and local depletion of macrophages resulted in progressive tumour growth.	false
+687b429a427c73c04b3680be95f175d468215653	Macrophages also contributed to rejection, as they were present in intraocular @DISEASE$E1 tumours, and local depletion of macrophages resulted in progressive @PHENOTYPICFEATURE$ growth.	false
+0029c37e1e87ca10cd7b23d4b41710ee8ba3ccd6	In this study, we demonstrate that CD4+ T cells can circumvent immune privilege and infiltrate intraocular @DISEASE$E1 @PHENOTYPICFEATURE$.	false
+04604c9cbce9812078b69d38c2c871de138e4792	Both CD4(+) T cells and corneal endothelial cells expressed TRAIL and induced apoptosis of @DISEASE$E1 @PHENOTYPICFEATURE$ cells.	false
+2de464277039aa384674855f201ae1b70a5b2052	The implications of these findings for the roles of the @DISEASE$ @PHENOTYPICFEATURE$ antigens in lytic infection and transformation are discussed.	false
+fec3458713ff65636dd60e5bfe01807f3bd3e560	Anophthalmos, @PHENOTYPICFEATURE$, and typical coloboma (@DISEASE$) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement in children.	false
+286c2b6f53ba995490b83eb88343a70eea3eecd5	Anophthalmos, microphthalmos, and typical coloboma (@DISEASE$) form an interrelated spectrum of congenital eye anomalies that can cause significant @PHENOTYPICFEATURE$ and cosmetic disfigurement in children.	false
+00c5014f25d76f00d258e76d377c6569b79595ae	Talectomy was performed on 10 patients (15 feet) for club @PHENOTYPICFEATURE$ in @DISEASE$.	false
+94b92a0a54d8fe409beeb766ce2cc1e827833ef1	Of the 13 patients, 9 (69.23%) had a @PHENOTYPICFEATURE$ due to @DISEASE$ and 1 (7.69%) each due to sacral agenesis, spastic cerebral palsy, neglected congenital talipes equinovarus, and post-traumatic contracture.	false
+dbb75b7d94b27541afe36099ec9aab669a798a9c	To describe the clinical features of children with anophthalmos, @PHENOTYPICFEATURE$, and typical coloboma (@DISEASE$).	false
+0cc20bf52d05fcfffb3e325c39e207733fc7a438	A case report is presented in which tissue expansion is used to provide the additional skin needed during an opening wedge mid-foot osteotomy to correct a varus @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+a4bbbb2254655df9800d65a4db2c380d33b97b06	Screening includes programs for the detection of @DISEASE$ and congenital hypothyroidism in newborn infants, for @PHENOTYPICFEATURE$ in the unborn fetus, and hypertension.	false
+752f559777af78f43f33274c0b29a275217e4f28	Specific conditions included congenital syphilis, Rh hemolytic disease of the newborn, measles, Haemophilus influenzae type B @PHENOTYPICFEATURE$, congenital hypothyroidism, @DISEASE$, and congenital rubella syndrome.	false
+6f75bcbf7b02109ece0b89a4f668ef2a589d2820	7 patients with @DISEASE$ who developed neurological @PHENOTYPICFEATURE$ in adolescence or early adult life are described.	false
+64a88914e95b754d31cf6eeec3f406587b2fc825	DHA deficiencies are associated with foetal alcohol syndrome, attention deficit hyperactivity disorder, cystic fibrosis, @DISEASE$, unipolar depression, aggressive hostility, and adrenoleukodystrophy. Decreases in DHA in the brain are associated with @PHENOTYPICFEATURE$ during aging and with onset of sporadic Alzheimer disease.	false
+bd8075e62af5ef58fa4c40e8e22143010eb9b245	The activities of the aminotransferases, GOT and GPT, were determined in the serum and cerebrospinal fluid of patients with Parkinson's disease, Huntington's chorea, Wilson's disease, amyotrophic lateral sclerosis (ALS), Friedreich's @PHENOTYPICFEATURE$, @DISEASE$, and head injuries.	false
+ac88da6cd3ada6740e7ea060d4693377afa4f182	The literature was reviewed regarding screening effects on congenital hip pathology, congenital heart disease, retained testis, hydrocephalus, hearing loss, psychomotor retardation, visual @PHENOTYPICFEATURE$, and phenylketonuria (@DISEASE$) and congenital hypothyroidism (CHT).	false
+933c1ab0dc9a7b64fbe22f6be111f0545b05fda1	The literature was reviewed regarding screening effects on congenital hip pathology, congenital heart disease, retained testis, hydrocephalus, hearing loss, psychomotor retardation, visual @PHENOTYPICFEATURE$, and @DISEASE$ (PKU) and congenital hypothyroidism (CHT).	false
+196f37f4596cff6d8364e825666e4b8205962c2c	Clinical applications of bioethical considerations are given to the patients with following diseases: @PHENOTYPICFEATURE$ and other neural tube defects, congenital metabolic disorders such as cretinism and @DISEASE$, malignant tumors such as neuroblastoma and retinoblastoma, and intractable epilepsy.	false
+e216ddfab8f5e290c44d9ebe5ff0bf89af9cf8ec	As already described for cystic fibrosis and Friedreich @PHENOTYPICFEATURE$, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of @DISEASE$ parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period.	false
+3f5605c19ca1822235b5170464e13e8824db1784	As already described for cystic fibrosis and Friedreich @PHENOTYPICFEATURE$, the incidence of @DISEASE$ in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period.	false
+a9d074cec75a6bde9cb35965b295babb82bd944f	Detecting 3D @PHENOTYPICFEATURE$ in @DISEASE$.	false
+67119fb0fd87d7e26bc36a9863a6e0c107e5ec6e	Survey of a kindred with hereditary enamel hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$ and disorders of the central nervous system.	false
+51fe9b1109bc93e4a1a8032fe6bf945d7b50cb90	DASS-42 Questionnaire can also be used to determine the level of anxiety, stress and depression in diseases of the oral mucosa like recurrent apthous @PHENOTYPICFEATURE$, burning mouth syndrome and @DISEASE$ disorders.	false
+a17dc05bd1fcf163b4d863122849dca658af2332	A prominent etiological theory proposed for @DISEASE$ related headache is that it results from a dysfunctional masticatory muscle system, wherein muscle @PHENOTYPICFEATURE$ is frequently caused by dental temporomandibular disharmony.	false
+c90cec9209bddc673ae41e44ad7fe5a375c46071	Wind instrument players, as a consequence of their musical performance and its relation with the CCMC, can develop a @DISEASE$ associated to muscle @PHENOTYPICFEATURE$ of certain elevator muscles, or even an increase of the intra-articular pressure in the functioning of the TMJ throughout musical activity.	false
+02555f0e3c517cd91c34e1bf8286cfeefe724fdb	@DISEASE$ patients have a variety of symptoms, including jaw @PHENOTYPICFEATURE$ and TMJ pain.	false
+b0a169327b1ef11bfb4828c10773e4f368eb3492	The most common @DISEASE$ diagnoses were: masseter trigger points, closing jaw muscle hyperactivity, TMJ synovitis, opening jaw muscle @PHENOTYPICFEATURE$, and advanced TMJ disk derangement.	false
+30e44e00564d35c64e5e746bce2450720fcdec36	The most common @DISEASE$ diagnoses were: masseter trigger points, closing jaw muscle @PHENOTYPICFEATURE$, TMJ synovitis, opening jaw muscle hyperactivity, and advanced TMJ disk derangement.	false
+6eddfd97eae9c69ed7b741ec18f3f6140663b5e3	The progressive nature of certain forms of TMD, combined with the major advantages deriving from early treatment, encourage the dental surgeon to carry out early interception of all those dental and/or @PHENOTYPICFEATURE$ which may determine the dysharmonic function and development of the facial mass, even though such anomalies may not represent the sole causes of the various forms of @DISEASE$.	false
+6d322e894b2f4ac158bae40827263b9c9468b2c3	The progressive nature of certain forms of @DISEASE$, combined with the major advantages deriving from early treatment, encourage the dental surgeon to carry out early interception of all those dental and/or @PHENOTYPICFEATURE$ which may determine the dysharmonic function and development of the facial mass, even though such anomalies may not represent the sole causes of the various forms of TMD.	false
+c25b5390798490febcc5eb698670e23482b6f540	The aim of the current study was to assess the prevalence of tardive @PHENOTYPICFEATURE$ (@DISEASE$) among a group of institutionalized schizophrenic and schizoaffective patients in southern region of Israel.	false
+9cb460bfd3a65c476032ce8f604756c8d8de4330	The pathogenesis of neuroleptic-induced tardive @PHENOTYPICFEATURE$ (@DISEASE$), including tardive parkinsonism and tardive dyskinesia (TD), has not yet been established.	false
+fbc78f85b9c38e779d5cf6abf176fa64f2c36948	These include desmosterolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$ (@DISEASE$), and some cases of Antley-Bixler syndrome.	false
+643ebe8d2eef87acc67eb95b472b26a7c6937db1	A case of @DISEASE$ [hydrops fetalis, ectopic calcifications, "moth-eaten" @PHENOTYPICFEATURE$ (HEM)] is presented.	false
+18c7e856ad228e8955ebb9505945cfb1d8934199	Hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$ (@DISEASE$): prenatal diagnosis and further delineation of a rare genetic disorder.	false
+fd934d01278d3062b94b38d7ecc6c36958e0ddd7	@DISEASE$ (hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$): prenatal ultrasound diagnosis and review of literature.	false
+38bee22acda5fe88623e9c7fa45d2ef2dda0b4d8	@DISEASE$ (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and Hirschsprung disease (HSCR).	false
+21cb94fb1b1e96482c144368f765a3217e1f755f	Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with @DISEASE$, cerebellar atrophy and @PHENOTYPICFEATURE$.	false
+19000c096529e5c64ec3fefbcdc9aa27d7edea17	@DISEASE$ is a rare bleeding disorder with high @PHENOTYPICFEATURE$.	false
+31866384fe27c28079a62672a0d12c6df943df0c	@DISEASE$ (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by @PHENOTYPICFEATURE$ (short trunk), abnormal epiphyses, and flattened vertebral bodies.	false
+e5e3d7759b29fd497c2eb63b3ea69df55b93797c	Progeny of mice treated with the mutagen N-ethyl-N-nitrosourea (ENU) revealed a mouse, designated Longpockets (Lpk), with short humeri, @PHENOTYPICFEATURE$, and disorganized growth plates, features consistent with @DISEASE$ (SEDC).	false
+2cae15f393621832d15a0d9997035beb7ee86b55	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+e77a3305812082c2c58fb8d7f73cc7df98a31b59	The classic @DISEASE$ (RCDP) phenotype involves a typical facial appearance, cataracts, @PHENOTYPICFEATURE$ causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects.	false
+f415f9f6f763cbc4acb2acfc8a6eafcd9fd8d67e	We speculate that loss of SPINK5 inhibitory domains, as in the case of @DISEASE$, may lead to proteolytic over-processing of hGH and to @PHENOTYPICFEATURE$.	false
+c9357ffe6531a2acdb734f2c89db9327d74262d6	@DISEASE$ (NS) (OMIM 256500) was suspected due to very high serum IgE levels, @PHENOTYPICFEATURE$, severe food allergies and typical hair finding (trichorrhexis invaginata).	false
+b3ce0f1b92ea67612921c12ffc08ac3e7f42d909	A survey of the literature revealed 28 cases of inherited ichthyoses with skin malignancy, including 12 cases of keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, seven of autosomal recessive congenital ichthyosis, three of @DISEASE$ and six of miscellaneous ichthyosis.	false
+46e5642bee85f17b74a42b834dacb2046ad17502	The differential diagnoses of the following dermatoses with an erythematous and a hyperkeratotic component are discussed: erythrokeratodermia variabilis (Mendes da Costa), progressive symmetric erythrokeratoderma (Gottron), loricrin keratoderma, erythrokeratoderma en cocardes (Degos), @DISEASE$, keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, erythrokeratolysis hiemalis (Oudtshoorn disease), and nonbullous congenital ichthyosiform erythroderma.	false
+9dffdf49447b3e883aa35c34cc1fcae2cb21c156	Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and @PHENOTYPICFEATURE$ (CLOVES) syndrome, Proteus syndrome, and @DISEASE$-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway.	false
+8591277865e9998a13292ab92bd138bfbd796b53	This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and @PHENOTYPICFEATURE$ (CLOVES) syndrome and @DISEASE$-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.	false
+7ba370a2c2d6ad30ec745fba468229ae6e52c23a	@DISEASE$ is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and @PHENOTYPICFEATURE$ leading to foot deformities as the most striking clinical symptoms.	false
+c0c2f5887e11452f1945db6692c431e9492e3f05	@DISEASE$ is a @PHENOTYPICFEATURE$ caused by the pork tapeworm Taenia solium.	false
+39a9e553ed24fda8094c21d040e5b8883e5dc31f	Although it is rarely defined, rhinorrhea, @PHENOTYPICFEATURE$, diabetes insipidus, spasmodic torticollis, drop attack, aseptic meningitis, and coexistence with @DISEASE$ have been reported, but this is the first reported case of an infected colloid cyst.	false
+54691595f9195c26c6f7c57022755f8338875778	Parkinsonism and other @PHENOTYPICFEATURE$ in 23 cases of @DISEASE$.	false
+66ca52a9437591401386d46e6490034cb11c9903	In addition, certain motor syndromes, such as monomelic amyotrophy, postpolio @PHENOTYPICFEATURE$, and @DISEASE$, can clinically mimic ALS/MND.	false
+8dbbcfedeb9f9222d38b937c4d9f82664929f327	Muscle MRI changes were more common in ALS (57% vs. 33%), and no @PHENOTYPICFEATURE$ was seen in patients with @DISEASE$.	false
+6281ab53dbf00825ff16084aec317ade93e0bd74	@DISEASE$ presents as a treatable @PHENOTYPICFEATURE$ and is characterized by persistent conduction block and fasciculations or myokymia.	false
+67a4ab377be98e4fa22780a94efd76f8d31adf1b	@DISEASE$ (MMN) is characterised by asymmetrical weakness and @PHENOTYPICFEATURE$, in the arms more than the legs, without sensory loss.	false
+b94e01e896fecf25cfff587f6f53c61f95e8b28b	The very mild degree of sensory fiber involvement, the absence of inflammation or @PHENOTYPICFEATURE$, and the distinctive clinical features support the concept of @DISEASE$ as distinct from chronic inflammatory demyelinating polyneuropathy.	false
+d11ec0fd0f868086b4916c1686645ead19906d2a	Programmed electrical stimulation, also known as electrophysiologic studies (@DISEASE$), is a cardiologic technique used to help guide physicians in their management of selected patients with @PHENOTYPICFEATURE$.	false
+079a6eaf185a3d68eab42d404c201af6bb932771	@DISEASE$ also provided an explanation about the mechanism of @PHENOTYPICFEATURE$ and successfully guided the management of these patients, as well as enhanced improvement in the quality of life.	false
+dba677d72d88652c6877a512c22c4f7bd6199e11	Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-@DISEASE$-@PHENOTYPICFEATURE$ and mental retardation ranging from mild to severe.	false
+93573041a1b1f21687d638633f286427890bb3de	Indications for @DISEASE$ were Wolff-Parkinson-White (WPW), documented @PHENOTYPICFEATURE$, or suspected arrhythmia.	false
+fbae3049e6814e537aa349693d01b9a73fcc5746	This very fast VT incurs at least a similar risk of @PHENOTYPICFEATURE$ or death as inducible standard VT (CL>230 ms) and a significantly higher risk than patients with a negative @DISEASE$.	false
+3747f1fb60df0f118b8e63baa5d67710bd44966a	We present the case of a 20-year-old girl with Down's syndrome, hypothyroidism, acne and @PHENOTYPICFEATURE$, who had a 2-year history of multiple atrophic lesions with an arciform pattern on the distal extensor portions of both thighs, histologically showing the typical features of @DISEASE$.	false
+8aa66007d455aae682cd09ce2b208394b3b2aea0	It is characterized by the association of a progressive spondylo-@DISEASE$-@PHENOTYPICFEATURE$ and mental retardation ranging from mild to severe.	false
+cee2c3a0ee61a08088dcaee9ef4e8490e6d5552e	Electrophysiologic studies (@DISEASE$) are often useful in managing patients with @PHENOTYPICFEATURE$, while transcatheter ablation, an investigational technology, holds promise as a cure for many of these disorders.	false
+3fba38561564315b424b56b8f8919d91baf05b95	During follow-up, 916 spontaneous @PHENOTYPICFEATURE$ episodes occurred in 16 of 25 @DISEASE$ patients (64%) and 967 episodes occurred in 31 of 42 ENDO patients (74%) (P = NS).	false
+9def8629bc6c9c36179d20393d84135bcdc94f34	During follow-up, 875 spontaneous @PHENOTYPICFEATURE$ episodes (AE) occurred in 15 of 25 @DISEASE$ patients (60%), versus 652 in 28 of 42 ENDO patients (67%; P = NS).	false
+98a81ec9fa04477e9c0f3e575298d031421072f1	The differential diagnosis for unresponsive disease includes poorly controlled asthma, noncompliance with medical regimen, vocal cord dysfunction, rhinosinusitis, gastroesophageal reflux disease or recurrent aspiration, foreign body aspiration, allergic bronchopulmonary aspergillosis, Churg-Strauss vasculitis, cardiac disorders such as @PHENOTYPICFEATURE$ or mitral stenosis, or other pulmonary disorders such as chronic obstructive pulmonary disease, @DISEASE$, interstitial lung disease, bronchiectasis, sarcoidosis, hypersensitivity pneumonitis, pulmonary embolism, cystic fibrosis, airway neoplasms, or laryngotracheomalacia.	false
+cc8dfb6681d081810b2f9782a7294632f731457e	After new attempts to optimize the severe asthma treatment, a questionnaire was applied, and additional tests for factors associated with difficult-to-control asthma, such as environmental and occupational exposure, smoking history, social factors, rhinitis/sinusitis, gastroesophageal reflux disease (GERD), obstructive sleep apnea, @PHENOTYPICFEATURE$ (CHF), pulmonary embolism, cystic fibrosis, vocal cord dysfunction, @DISEASE$, and Churg-Strauss syndrome, were performed.	false
+145318cdd0996ba0d98de7f86d2fa609a2461bb4	After new attempts to optimize the severe asthma treatment, a questionnaire was applied, and additional tests for factors associated with difficult-to-control asthma, such as environmental and occupational exposure, smoking history, social factors, rhinitis/sinusitis, gastroesophageal reflux disease (GERD), @PHENOTYPICFEATURE$, congestive heart failure (CHF), pulmonary embolism, cystic fibrosis, vocal cord dysfunction, @DISEASE$, and Churg-Strauss syndrome, were performed.	false
+e425a229ea52a4fac39af562f2d76ed6d0d46638	Phenotypic analysis of OFCD and Lenz @PHENOTYPICFEATURE$ syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/@DISEASE$.	false
+ebcb92e1e89c4f76d534a139638fc1bc5cdb859a	Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, @PHENOTYPICFEATURE$ and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/@DISEASE$.	false
+06cff694fad210e40d70296a1a4e26bda6a65662	Alstr?m syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, early-onset obesity, and @DISEASE$.	false
+1cbdcde4ae9626c85c8e1234d0a7c417d35d936a	Alstr?m syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, early-onset obesity, and @DISEASE$.	false
+d16ed857746b687c245035cdb7be60baa40ba79d	Alstrom syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, obesity, @DISEASE$ and chronic nephropathy.	false
+6a25a07d834f8e4bb03cc63cf2089ea9570e796c	Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, obesity, @DISEASE$ and chronic nephropathy.	false
+eddca0886aa78962f8a5e175326a5a38e341c6af	High rates of visual impairment were found in persons with @DISEASE$, but @PHENOTYPICFEATURE$ is still one of the main causes of blindness.	false
+8e08a79381196d327ece27114728b7ac21909207	High rates of @PHENOTYPICFEATURE$ were found in persons with @DISEASE$, but cataract is still one of the main causes of blindness.	false
+06cff694fad210e40d70296a1a4e26bda6a65662	Alstr?m syndrome is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, sensorineural hearing loss, early-onset obesity, and @DISEASE$.	false
+1cbdcde4ae9626c85c8e1234d0a7c417d35d936a	Alstr?m syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, @PHENOTYPICFEATURE$, early-onset obesity, and @DISEASE$.	false
+cf7f626586e330f45495d86d116491dbb43d5d1d	@PHENOTYPICFEATURE$ helps @DISEASE$ patients.	false
+b48bfaa39bce83077c603670ecccb9395889ab4d	Patients with @DISEASE$ have a higher incidence of @PHENOTYPICFEATURE$.	false
+fd8b10ebd92e5e764c7bf499e8cb15ad55c1f5b8	This syndrome is characterized by childhood @PHENOTYPICFEATURE$; sensorineural hearing loss; obesity; @DISEASE$; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.	false
+83d1157b30fc8446a3c650142554457dffb20aa6	This syndrome is characterized by childhood retinal degeneration; @PHENOTYPICFEATURE$; obesity; @DISEASE$; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.	false
+4972ba9fa791508b6808adfeec14e75f238b1557	This study supports the proposition that vestibular dysfunction and @PHENOTYPICFEATURE$ (SNHL) may be considered among the complications due to @DISEASE$ mellitus (NIDDM).	false
+1ba769cb24369c2674f5335085eda0c5e3ce8def	This study supports the proposition that @PHENOTYPICFEATURE$ and sensorineural hearing loss (SNHL) may be considered among the complications due to @DISEASE$ mellitus (NIDDM).	false
+282b3b0efb1bb136ae371125b366378c887751a6	Nutrition, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5a1dee450a846584cf54bd6effa2a8b9883e30ee	@DISEASE$, @PHENOTYPICFEATURE$, and cognitive decline.	false
+0af6426d9642b112033ae3275a3506732000efd7	The auricular sticking therapy combined with western medication effectively release itching in chronic perianal @DISEASE$ and @PHENOTYPICFEATURE$, improve the living quality and reduce recurrence rate.	false
+c216da99e4ec07e23fa61dfdf6fabe4218742cd5	Dubowitz syndrome: @DISEASE$, low birth weight dwarfism and @PHENOTYPICFEATURE$.	false
+63caf01239549c37121fd6230029b2ca1f8c4cf6	@DISEASE$ is not associated with @PHENOTYPICFEATURE$ overall.	false
+ae2e900fc6e29fb4250a764c0f776a5cf5d281c8	A 10-month-old infant is described who suffered from extensive @DISEASE$, failure to thrive, @PHENOTYPICFEATURE$ and oedema.	false
+c1702219b7e7860a382bae4fa679543c3f9d5507	We identified 18 trials including assessment of QOL (4 Asthma, 4 Rhinitis, 2 Dermatitis, and single studies of @DISEASE$, Cystic fibrosis, Otis media, Amblyopia, Diabetes, Obesity associated with a brain tumour, Idiopathic short stature, and @PHENOTYPICFEATURE$).	false
+21f883b6027de7ca3703933c26542ff531923f69	We identified 18 trials including assessment of QOL (4 Asthma, 4 Rhinitis, 2 Dermatitis, and single studies of @DISEASE$, Cystic fibrosis, Otis media, Amblyopia, Diabetes, Obesity associated with a brain tumour, Idiopathic @PHENOTYPICFEATURE$, and Congenital agranulocytosis).	false
+b16c7619192f9cb769bc44be6e4ee78b62e589e5	Transgenic mice expressing IFN-gamma in the epidermis have @DISEASE$, @PHENOTYPICFEATURE$, and hair loss.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+7ee177f1c52664e2b165d2f741a55c649c6bc511	To determine whether @DISEASE$ is associated with @PHENOTYPICFEATURE$.	false
+ae75a22ae8e1b1945fd7463d426c7b98cdfe25bc	We report here a 4-month-old girl with @DISEASE$ accompanied by weight loss, electrolyte disturbance, hypoproteinemia and @PHENOTYPICFEATURE$.	false
+1504e3ac45b37317f4e6fbc24f61aff822a5758d	Different biomarkers are used to evaluate the severity of @DISEASE$ (AD); however, it remains difficult to determine the severity of @PHENOTYPICFEATURE$.	false
+d23c2596d035b6ee30849c0b082aec3cb82ff801	Life-threatening complications due to side effects were identified in fifteen patients, and could be grouped into three areas: hepatitis (one), @DISEASE$ (ten), and @PHENOTYPICFEATURE$ (four).	false
+73c067cde49748d7cce3ebf8361fca20f6e995cf	Adverse effects and toxicities of the inhaled anesthetics include nephrotoxicity, hepatotoxicity, @PHENOTYPICFEATURE$, neurotoxicity, postoperative nausea and vomiting, respiratory depression and irritation, @DISEASE$, and postanesthesia agitation.	false
+dae26c13a7638349fb83c5dc007e5ffd1eb300fa	To date these models have implicated RyRs in fundamental biological processes including excitation-contraction coupling and long term plasticity as well as diseases including @DISEASE$, @PHENOTYPICFEATURE$, heart failure, and seizures.	false
+0950ad79dc8dc6f08556faba63276168ab853027	The resulting perioperative complications were principally caused by anesthesia: 73 episodes of hypotension including one death 18 months later, seven of @PHENOTYPICFEATURE$, one of respiratory arrest, three of mental confusion, one of asthma, one of @DISEASE$, one tooth injury and one broken aspiration needle.	false
+22264171298a7d11110665469a9e5ad0b0308397	She developed the complete symptomatology of @DISEASE$ triggered by halothane anaesthesia, with tachycardia, @PHENOTYPICFEATURE$, cyanosis, combined respiratory and metabolic acidosis and hyperpyrexia.	false
+5dfd6972103327476046b4fc49122bb4f0b18683	A multiplex DNA microarray chip aimed at the identification of allelic polymorphisms was developed for simultaneous detection of swine disease resistance genes underlying @DISEASE$ (RYR), postweaning diarrhea, @PHENOTYPICFEATURE$ disease (FUT1), neonatal diarrhea (MUC4), and influenza (MX1).	false
+0142cea13a69725db4bd96d731b1ac4b24e158d3	@DISEASE$ (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital @PHENOTYPICFEATURE$.	false
+392d677f098554e025f2c4533c63549a2aa169f6	@DISEASE$ (LCA) is a clinically and genetically heterogeneous autosomal recessive @PHENOTYPICFEATURE$ and the most common genetic cause of congenital visual impairment.	false
+685abf8ba822c5248a1011241f202284dbb3cd77	The blind children with @DISEASE$ manifest severe @PHENOTYPICFEATURE$, a phenotype typical for CRX and LCA.	false
+eeceb3d40da5dbc0e3375dfbfc2de53579acebfc	Variants in NMNAT1 cause a severe, early-onset @PHENOTYPICFEATURE$ called @DISEASE$ (LCA).	false
+9e25e81f3c5fd221cbdc86ad9f434b872e414c93	@DISEASE$ (LCA) is an autosomal recessive @PHENOTYPICFEATURE$ that manifests with genetic heterogeneity.	false
+01e90622e8839bc08105c21d771b2e497c1fc244	NMNAT1 E257K variant, associated with @DISEASE$ (LCA9), causes a mild @PHENOTYPICFEATURE$ phenotype.	false
+0d69c1dd0d1e9c22b7e5e5d7273a3f3f77d25f31	@DISEASE$ (LCA) is a group of severe autosomal recessive @PHENOTYPICFEATURE$ unified by the onset of blindness at birth and absence of ERG signals.	false
+fd1c000cb78fa321a078ef4c7a6b69238029ed86	@DISEASE$ (LCA) is the most severe form of inherited retinal @PHENOTYPICFEATURE$ in children.	false
+0cfa889bdea3c763a1132807a2c8bedb74a8c3d0	Using direct sequencing, we screened 142 patients, who had either @DISEASE$ (LCA) or early onset @PHENOTYPICFEATURE$ (EORD), for mutations in OTX2.	false
+6e811588128b4b398ebc0195505b2288b8788bfd	@DISEASE$ caused by CRB1 is a unique form of early-onset @PHENOTYPICFEATURE$ because it spares the para-arteriolar RPE and causes abnormal retinal lamination with thickening.	false
+3529cc276987b4a85b9266610378b7f4d7c262ab	@DISEASE$ (LCA) is an early onset @PHENOTYPICFEATURE$ that causes severe visual impairment.	false
+0496a82af898b745b8ae40c7f26f5fd60cb9f446	We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median @DISEASE$ ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and @PHENOTYPICFEATURE$.	false
+1a075f9342d951b8f9c783a70c9dcd7b03749876	@DISEASE$ (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and @PHENOTYPICFEATURE$.	false
+df13058725e5301b33efceceb5034b5ba4c23c37	This review aims to identify the short and long-term neurodevelopmental outcomes of infants with BPD, considering that the new definition of @DISEASE$ allows to relate severity of BPD with greater risk of @PHENOTYPICFEATURE$.	false
+38f3466054fb6b5be906864468069646c46df096	This review aims to identify the short and long-term neurodevelopmental outcomes of infants with BPD, considering that the new definition of BPD allows to relate severity of @DISEASE$ with greater risk of @PHENOTYPICFEATURE$.	false
+d813d4da6a2e1d72eedbc8c4cb7ad9eb8d546a85	This review aims to identify the short and long-term neurodevelopmental outcomes of infants with @DISEASE$, considering that the new definition of BPD allows to relate severity of BPD with greater risk of @PHENOTYPICFEATURE$.	false
+85126e61188cd602747d1b0ec11664def2594b76	Biparietal diameter (@DISEASE$) was smaller in @PHENOTYPICFEATURE$ (P < .0001).	false
+8a21d4d38a3866cfc157b748d1cbb9525adca9a4	Chorioamnionitis, moderate-to-severe @DISEASE$, and the duration of MV were associated with neurodevelopmental @PHENOTYPICFEATURE$ in EPIs.	false
+647880dc2183585ecb04b7e6d2a8e33b63ff5fef	The neurological status of each child was assessed as normal or impaired (cerebral palsy, seizures, mental retardation, @PHENOTYPICFEATURE$), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, cystic fibrosis, @DISEASE$, asthma, etc), and congenital malformations and syndromes were identified.	false
+f43468af4bc85d05b04487229101e2904ffa9b2a	The neurological status of each child was assessed as normal or impaired (cerebral palsy, @PHENOTYPICFEATURE$, mental retardation, spasticity), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, cystic fibrosis, @DISEASE$, asthma, etc), and congenital malformations and syndromes were identified.	false
+46bb51e3282198ec3f0638894b922ee622dae43e	The neurological status of each child was assessed as normal or impaired (cerebral palsy, seizures, @PHENOTYPICFEATURE$, spasticity), and other medical diagnoses such as chronic pulmonary disorders (eg, interstitial disease, cystic fibrosis, @DISEASE$, asthma, etc), and congenital malformations and syndromes were identified.	false
+9aa80fa8eddc90d401c1d7ac735c4bcb050fe58c	Chorioamnionitis at birth does not increase the risk of neurodevelopmental @PHENOTYPICFEATURE$ in premature infants with @DISEASE$.	false
+1732becb9f89bd5ef9d5b01773ec8660439038a9	To compare preterm infants with no bronchopulmonary dysplasia (BPD), @DISEASE$ with chorioamnionitis (BPDC) and BPD with no chorioamnionitis (BPDNC) for the association with neurodevelopmental @PHENOTYPICFEATURE$ (NDD) at three years corrected age.	false
+fcb5386e03f0ba41b0ff5d510877e9b0c7eb6b18	To compare preterm infants with no bronchopulmonary dysplasia (BPD), BPD with chorioamnionitis (BPDC) and @DISEASE$ with no chorioamnionitis (BPDNC) for the association with neurodevelopmental @PHENOTYPICFEATURE$ (NDD) at three years corrected age.	false
+34da0ec0b26287f64edbeb2b0a0759652604ae8b	To compare preterm infants with no bronchopulmonary dysplasia (@DISEASE$), BPD with chorioamnionitis (BPDC) and BPD with no chorioamnionitis (BPDNC) for the association with neurodevelopmental @PHENOTYPICFEATURE$ (NDD) at three years corrected age.	false
+07b62dbaefce26450512497397639ea54796644f	To compare preterm infants with no @DISEASE$ (BPD), BPD with chorioamnionitis (BPDC) and BPD with no chorioamnionitis (BPDNC) for the association with neurodevelopmental @PHENOTYPICFEATURE$ (NDD) at three years corrected age.	false
+43032987fc2da2eac5eaab6e91f6262aeb1d734a	These infants had increased mechanical ventilator and surfactant requirements, higher incidences of patent ductus arteriosus, early @PHENOTYPICFEATURE$, and @DISEASE$, and higher mortality rates.	false
+d5362cf2ae67e3ab6a092eab1ed615911d168d89	Studies have shown an association between altered expression of selectins and premature birth, early @PHENOTYPICFEATURE$ and @DISEASE$.	false
+460e764d53baad86ae095c24c72a1ef688122595	However, the neurodevelopmental @PHENOTYPICFEATURE$ rates were not significantly higher in BPD with chronic oxygen dependency children compared to children with @DISEASE$ only.	false
+54bff9dc42f87a8c4965d2e8d28f0089acf8a537	However, the neurodevelopmental @PHENOTYPICFEATURE$ rates were not significantly higher in @DISEASE$ with chronic oxygen dependency children compared to children with BPD only.	false
+099e904fc8479337dd60f71c38bae7cb28cbd672	Fetuses with open @PHENOTYPICFEATURE$ have a smaller @DISEASE$ in the first trimester.	false
+3ac44a1bf2fe044868c460382b841103752becdf	A 15-month-old male, diagnosed as @DISEASE$ at 4 months old, revealed progressing @PHENOTYPICFEATURE$.	false
+66b66f7fc72e322fa745d691171bf5ddc9e08e4e	Novel mutation in the fukutin gene in an Egyptian family with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+caa0e9e70a667b5f53780edae983656ca416ddcd	We found that the combination of @DISEASE$ and DZP yielded a synergistic effect, shortening @PHENOTYPICFEATURE$ durations and reducing neuropathology compared to DZP alone, when treatment was delayed 20-30min after seizure onset.	false
+db99cadb455fe92d7d60b537d3889568cc9a7f4b	We found that the combination of @DISEASE$ and DZP yielded a synergistic effect, shortening seizure durations and reducing neuropathology compared to DZP alone, when treatment was delayed 20-30min after @PHENOTYPICFEATURE$ onset.	false
+8bb2965963f0d0187a57d1c0d9a735f51ea0ca53	PHY reduced the number of animals that developed @PHENOTYPICFEATURE$, protected a fraction of AChE from GD inhibition, and attenuated post-exposure body weight and temperature loss independent of @DISEASE$ and/or DZP treatment.	false
+bb29472c42aa84d456c68fc3596a1c39b824a0eb	The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, @DISEASE$, congenital myasthenic syndrome, autosomal dominant @PHENOTYPICFEATURE$ syndrome type 7 and Denys-Drash syndrome.	false
+ba66594ff8ecafb29087b96645cd1b764eafa3f6	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, @DISEASE$, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+0f88d1ab38acaa01eb41771168f51e6a6809bea4	Although conventional diffusible antiepileptic drugs do confer @PHENOTYPICFEATURE$ protection when administered locally by @DISEASE$, the effect is transitory.	false
+a60af7f10a38287647bfe18c56fb7131a3e1c42f	@DISEASE$ is a potential approach for @PHENOTYPICFEATURE$ protection that could represent an alternative to resective surgery in the treatment of focal epilepsies that are resistant to orally-administered antiepileptic drugs.	false
+320d4cce03e1c1832d4ece5bc1cc0122e4e550aa	In this phase 1 clinical trial, 3 adult patients with DRE underwent @DISEASE$ into the @PHENOTYPICFEATURE$ focus of artificial CSF vehicle followed by muscimol for 12 to 24 h each using a crossover design.	false
+65ed9e7017c35404ea19e42d2bd361cad6aa5672	We examined the efficacy of the NMDA receptor antagonist caramiphen edisylate (@DISEASE$; 20mg/kg, im) and DZP (10mg/kg, sc), administered both separately and in combination, at 10, 20 or 30min following @PHENOTYPICFEATURE$ onset for attenuation of the deleterious effects associated with GD exposure (1.2 LD(50); 132?g/kg, sc) in rats.	false
+e048a9f8411072117acc917cfe7854d40a820e52	Orofacial dyskinesia (@DISEASE$) is a disorder characterized by @PHENOTYPICFEATURE$ of the oral and facial muscles.	false
+1335a3583e3a23b1e0a9b35e0e0da5536956ef0e	@PHENOTYPICFEATURE$ alone or combined with @DISEASE$ significantly increased ADR accumulation in a pH range from 6.2 to 7.6.	false
+0561533432f89783beb47d7bf13268837a5c69fc	There were no significant differences between AH and OH infants with cerebral palsy (9.6% vs. 7.6%), @PHENOTYPICFEATURE$ (5.4% vs. 5.0%) or any other component of @DISEASE$.	false
+5f833b059951a843d869c98b46d3023c454572d8	Inherited metabolic disorders and stroke part 1: @DISEASE$ and mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes.	false
+3f86b9542398af1db55cc4593611d8f571e7697d	Two cases of @DISEASE$ with @PHENOTYPICFEATURE$ and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy.	false
+36982e55375f7bd0cb83b5b8097d226bcf62f403	In part 1, we concentrate on @DISEASE$ and mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes.	false
+979d9f075b0f2ba481a59dd73dfb90319eccd367	In systemic diseases such as amyloidosis, sarcoidosis, Friedreich's @PHENOTYPICFEATURE$, @DISEASE$ and muscular dystrophy the clinician has to judge the presence and the amount of cardiac involvement.	false
+ed5bfa5c98ecf1af966b91fe145ad7b3efb1b32a	The early symptom of anterior beaking of the vertebral bodies, in combination with @PHENOTYPICFEATURE$ and @DISEASE$, can suggest the possibility of type II fucosidosis.	false
+e755978c9d005cef55e9ea9d79dc42ab4ecc01de	@DISEASE$ is inherited as an X-linked disorder secondary to deficiency of alpha-galactosidase A, resulting in @PHENOTYPICFEATURE$ of substances containing alpha-d-galactosyl moieties.	false
+e3a496e6d7ecedc3798a6688a95dd38dacf57bb8	In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of @DISEASE$ and mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes.	false
+6877a8e8727b59d8d15fe3eba016994c862f08f0	A new case of alpha-N-acetylgalactosaminidase deficiency with @DISEASE$, with M?ni?re's syndrome and without @PHENOTYPICFEATURE$.	false
+df10761355112e2d433a46e45109b2696e0655ad	Furthermore, the database has demonstrated that significant renal or cardiac disease often co-exists with cerebrovascular disease, and may predispose patients with @DISEASE$ to neurological @PHENOTYPICFEATURE$ and stroke.	false
+b3764e3a10d0cf23b21c630c7ca0853389cd2447	As the disease is inherited from the affected father to his sons and daughters, this is the first description of a probably autosomal dominant form of late onset @DISEASE$ with predominant sensory ataxia and minor other @PHENOTYPICFEATURE$.	false
+f1be63e4b6107246fe845136737530e0671b620e	@DISEASE$ with sensorineural deafness and early-onset @PHENOTYPICFEATURE$.	false
+f286e1a8667b8fd7865e0813fa901685ea986a7e	The brain of a patient with @DISEASE$ type 1 (HSN-1) associated with sensorineural deafness and early-onset @PHENOTYPICFEATURE$ was neuropathologically investigated.	false
+645a82194f740471070f16535de93be23732d824	Charcot-Marie-Tooth 2B @PHENOTYPICFEATURE$ (CMT2B) is a debilitating autosomal dominant @DISEASE$.	false
+ce71dc3c7b6bb40a0924914fb0ba2a63aba5bbf8	We analysed the SPTLC1 gene for mutations in 8 families with @DISEASE$ I, 60 individuals with sporadic @PHENOTYPICFEATURE$, 6 HSAN II families, 20 Charcot-Marie-Tooth type I families and 20 families with Charcot-Marie-Tooth type II.	false
+216752f010c5702dfd3d3de4f89231525508071b	A comparison of @PHENOTYPICFEATURE$ SK-N-@DISEASE$(2) and HCT116 cells revealed, that in contrast to HCT116, in SK-N-BE(2) cells 2-DG alone was able to induce cell death.	false
+eefc03aef5162b6b6330c66a23ce0772f9a275ff	The authors report on 7 patients with 10 anomalies of vas deferens: 2 patients with cystic fibrosis; 3 patients with @PHENOTYPICFEATURE$; 2 patients with no evidence of @DISEASE$ and without urinary tract anomalies.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+24a84720f5d5ef722257c8c34b0f3a95afe0c46f	@DISEASE$ presenting with neonatal @PHENOTYPICFEATURE$ simulating biliary atresia in a patient with a novel mutation.	false
+b1f386056cc8833342384c7b8ccef646beedcf8f	Herein, the authors report a 63 d-old boy with @DISEASE$ presenting with neonatal @PHENOTYPICFEATURE$ mimicking biliary atresia.	false
+29687cafd786b05cedccfc1aa95658da1f9e3c94	We report the case of a 5-year-old Caucasian female with an undiagnosed @PHENOTYPICFEATURE$, mild facial dysmorphism, sparse hair, mild developmental delay and a positive sweat chloride test in the absence of @DISEASE$.	false
+05d41bbd8d9641baf2b8db7018d0dea3f7a9ffa4	@DISEASE$ transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & @PHENOTYPICFEATURE$.	false
+478d1a324376d4d8ca3554db4fec78150e8d5f86	Abnormal function of these transporters results in diseases like Wilson's disease, progressive familial @PHENOTYPICFEATURE$ syndromes, Dubin-Johnson syndrome and @DISEASE$.	false
+00ab9a22ae365fff3b5883e877ca5acfaa6727a9	@DISEASE$ mutations were identified in 5 candidates (7%), abnormal karyotypes were found in 2 (3.5%), and an autosomal dominant @PHENOTYPICFEATURE$ was identified in 1 (1.4%).	false
+fe59541b832703b6346e21e572edaf69ac08baa6	Other conditions, which may potential targets for therapy with rhIGF-I or rhIGF-I/IGFBP-3, include chronic inflammatory or nutritional disorders such as Crohn's disease, juvenile chronic @PHENOTYPICFEATURE$, or @DISEASE$.	false
+933c928bdf66c188b65600364fea4b46a85251d1	We describe a 20-year-old patient with @DISEASE$ who developed acute nonoliguric @PHENOTYPICFEATURE$ associated with inhaled tobramycin.	false
+28d79d94917cad9618a9f31310076e32c5ffe6d4	Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by @DISEASE$ (BCC), odontogenic tumors and various @PHENOTYPICFEATURE$.	false
+c4237a44a72fa375254d30da7f8c26af58ea1ff2	Nevoid basal cell carcinoma syndrome (@DISEASE$) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various @PHENOTYPICFEATURE$.	false
+4c212f81f4a28eec37309a1c7755e4e4530d777d	@DISEASE$ (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various @PHENOTYPICFEATURE$.	false
+af52da4d1756b41165d06742a9c6e9c0adb04f21	@DISEASE$ or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and @PHENOTYPICFEATURE$.	false
+3044a16a1a520c46eaa707b5437bdf0004bf4e2b	Gorlin-Goltz syndrome or @DISEASE$ is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and @PHENOTYPICFEATURE$.	false
+412593edf9a99865282fddf3f56f8a990c6a6939	@DISEASE$ has mainly three components; basal cell carcinoma, jaw cysts and @PHENOTYPICFEATURE$.	false
+20d67a550b7a91dd73c9dcd933fc81837957378d	The diagnostic criteria for @DISEASE$ include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, @PHENOTYPICFEATURE$, positive family history, ectopic calcification and neurological anomalies.	false
+e6f525b20215f8fb80ea5468bd25d064cff1588a	The diagnostic criteria for nevoid basal cell carcinoma syndrome include @DISEASE$, palmoplantar pits, multiple odontogenic keratocysts, @PHENOTYPICFEATURE$, positive family history, ectopic calcification and neurological anomalies.	false
+fd3f6e5f5b8d31a7771142ee1f721ad90afbd58c	Nevoid basal cell carcinoma syndrome (@DISEASE$) is an autosomal dominant disorder, characterized by @PHENOTYPICFEATURE$ and multiple keratocystic odontogenic tumors of the jaws.	false
+e489ec104058dcda8bb20e37735baaa531216694	@DISEASE$ (NBCCS) is an autosomal dominant disorder, characterized by @PHENOTYPICFEATURE$ and multiple keratocystic odontogenic tumors of the jaws.	false
+930e4c7ebdc33ace1f3fc35926d356b109a40112	Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by @DISEASE$, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+fb211f349d0a6d6797b916b2bdab044735e89c7f	@DISEASE$ is an autosomal dominant condition characterized by multiple basal cell carcinomas, @PHENOTYPICFEATURE$ and sometimes mental retardation.	false
+30f2ea59c0d2fe8d9b5f1f6ecaf789bf615360aa	@DISEASE$ (NBCCS, Gorlin syndrome) is an autosomal dominant condition with a wide range of manifestations, including multiple basal cell carcinomas, medulloblastoma, odontogenic keratocysts (OKC) and @PHENOTYPICFEATURE$.	false
+af8a5f70fa649e606b91ed310629655291b37fff	Nevoid basal cell carcinoma syndrome (NBCCS, @DISEASE$) is an autosomal dominant condition with a wide range of manifestations, including multiple basal cell carcinomas, medulloblastoma, odontogenic keratocysts (OKC) and @PHENOTYPICFEATURE$.	false
+743cc27e826161bbfa6737f2d3402ad6833d11b7	Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is an autosomal dominant condition with a wide range of manifestations, including @DISEASE$, medulloblastoma, odontogenic keratocysts (OKC) and @PHENOTYPICFEATURE$.	false
+248576b28dd52b04d7e21c63b080bc1849171b18	@PHENOTYPICFEATURE$ and keratocysts in the @DISEASE$.	false
+3caf7b935e75d8a42880487da95ff240cecc14fd	The basal cell nevus syndrome (Gorlin-Goltz syndrome) characterized by @DISEASE$, odontogenic cysts, @PHENOTYPICFEATURE$ and associated neoplasms belongs to the group of genodermatoses.	false
+8cb965150d3bec7ce199c9dd21b85dde3a4fc899	The @DISEASE$ (Gorlin-Goltz syndrome) characterized by multiple basal cell carcinomas, odontogenic cysts, @PHENOTYPICFEATURE$ and associated neoplasms belongs to the group of genodermatoses.	false
+93448e743204f24ff7f16c850404fb50437e8e80	The basal cell nevus syndrome (@DISEASE$) characterized by multiple basal cell carcinomas, odontogenic cysts, @PHENOTYPICFEATURE$ and associated neoplasms belongs to the group of genodermatoses.	false
+c0977bc0f838ac5af38dac8a95792efc645fc137	@DISEASE$ (NBCCS) is characterised by @PHENOTYPICFEATURE$, cutaneous basal cell carcinomas and multiple keratocysts.	false
+443563531ab370560715d3f62944d97c40a7f2e6	Nevoid basal cell carcinoma syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, cutaneous basal cell carcinomas and multiple keratocysts.	false
+d1f14aae71e053fae991d63221037fe9a8084a32	These conditions include immune and inflammatory disease such as: primary and hepatitis C virus (HCV)-related glomerulonephritis; infectious disease such as pyelonephritis with or without reflux and tuberculosis; vascular disease such as chronic ischemic nephropathy; hereditary and congenital disease such as polycystic disease and congenital cystic dysplasia; metabolic disease including diabetes and @PHENOTYPICFEATURE$; and systemic disease (@DISEASE$, vasculitis, myeloma).	false
+f420927dbb0869a5959dac54e7b6c1f9ec905c67	Diseases that cause smooth muscle dysfunction include familial visceral myopathies, nonfamilial visceral myopathies, @DISEASE$, @PHENOTYPICFEATURE$, amyloidosis, thyroid disease, and so on.	false
+4a019f1afe7a243f840578bccd053c9b135db8f3	These conditions include immune and inflammatory diseases such as primary and HCV-related glomerulonephritis; infectious diseases such as pyelonephritis with or without reflux and tuberculosis; vascular diseases such as chronic ischemic nephropathy; hereditary and congenital diseases such as polycystic disease and congenital cystic dysplasia; metabolic diseases including diabetes and @PHENOTYPICFEATURE$; and systemic diseases (@DISEASE$, vasculitis, myeloma).	false
+aa4a611901086d9178d8331072ebe329ff7a37df	In addition, our patient had @DISEASE$, a rare and usually sporadic @PHENOTYPICFEATURE$, previously reported in two other patients with abnormalities of chromosome 4.	false
+9ea40d0ba5d5e07cfc78a863cb564f3251c04c37	@DISEASE$ associated with @PHENOTYPICFEATURE$ due to aqueductal stenosis.	false
+198958cbb73a9c05608cf36aa0a685bac0cdb99e	Patients with complete deletion of the @DISEASE$ locus often have atypical phenotypes including ptosis, obstructive @PHENOTYPICFEATURE$, and the occurrence of seizures.	false
+84c7e0e27a6f15c3f8f79ac7bc43435298006b8b	The cases of @DISEASE$ diagnosed during use of estrogen-progestogen therapy because of @PHENOTYPICFEATURE$ occurred when the dosage or duration of the progestogen was less than that considered optimum.	false
+2422e059e09ef32ce62f3f22b94332d91260101a	Tamoxifen was associated with higher risk of @DISEASE$ and @PHENOTYPICFEATURE$ compared with placebo.	false
+3ac33df3bb30ecdf4993819d89061d8ddb8cc686	Importantly, exemestane did not increase the risks of @DISEASE$, thromboembolism, cardiovascular events, or @PHENOTYPICFEATURE$.	false
+51c8da1b7a41a31f3f40b15e7e0996b35e4c1f14	Although some associations between BMI and disease differed between the sexes, in general, fractures and diseases of the respiratory tract were associated with the lowest BMI and arthritis, @PHENOTYPICFEATURE$/glaucoma, and @DISEASE$ with the highest BMI.	false
+eb25d96725940d952706df1df9def2b604be477f	Although some associations between BMI and disease differed between the sexes, in general, fractures and diseases of the respiratory tract were associated with the lowest BMI and arthritis, cataract/@PHENOTYPICFEATURE$, and @DISEASE$ with the highest BMI.	false
+d37e05c98595184af339ce58ad1f73b20bce2fb2	However, adverse effects associated with tamoxifen include a minimally increased rate of @DISEASE$, @PHENOTYPICFEATURE$, and strokes.	false
+8bc43136a8e1ffe7d2c949c495da05964b3800f0	Adverse effects included a very small increase in the incidence of @DISEASE$, @PHENOTYPICFEATURE$, and stroke.	false
+5ac1b11b833e30da88ec6a5271231a41e91c4ffb	However, adverse events, including @DISEASE$, thromboembolic events, and @PHENOTYPICFEATURE$, are more common in older women.	false
+944b21b061bc753b5a32773e08c9738f4304d0de	Tamoxifen increased the incidence of @DISEASE$ and @PHENOTYPICFEATURE$ compared with placebo and raloxifene.	false
+ed11c7d994db920542951d16856b1bb4bfc41a85	Toxicities with SERMs, including increased risk for @DISEASE$, thromboembolic events, and @PHENOTYPICFEATURE$, have limited their utility.	false
+a7bdfa1d866bbbc57e8b9bc9a93f0faab131933d	Tamoxifen was more effective than raloxifene but also increased the incidence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+38225d4c9fe0a8ab3c3433e3b6e647f549c43e45	Outcome after microvascular decompression for typical trigeminal neuralgia, hemifacial spasm, tinnitus, disabling positional @PHENOTYPICFEATURE$, and @DISEASE$ (honored guest lecture).	false
+cb019445a6756acf687db6367c66a76d28cfdd8c	Trigeminal neuralgia, facial spasm, tinnitus, @PHENOTYPICFEATURE$, and @DISEASE$ are believed to be the symptoms complex of hyperactive dysfunction of the cranial nerve caused by vascular cross compression at the root entry (exit) zone of the appropriate nerve.	false
+276271ffd8313ca4af61ee260f2fae19fa836dfa	Symptoms of trigeminal or @DISEASE$ (somatic sensory), hemifacial spasm (somatic motor), tinnitus and @PHENOTYPICFEATURE$ (special sensory), and some cases of 'essential' hypertension are caused by these vessels compressing cranial nerves V, IX-X, VII, VIII, and left X and medulla oblongata.	false
+923c12a6068af559c7dc915b044b6858ee5f6acb	MVD is also an effective treatment for @DISEASE$ (GPN), and recently MVD has been shown to be an effective treatment for particular types of vertigo (disabling positional @PHENOTYPICFEATURE$, DPV) and certain types of tinnitus.	false
+28583782c68f591c7dacfbc745aa7eac6ad09d57	Symptoms of trigeminal or @DISEASE$ (somatic sensory), hemifacial spasm (somatic motor), tinnitus and @PHENOTYPICFEATURE$ (special sensory) and some cases of "essential" hypertension are caused by these vessels compressing cranial nerves V, IX--X, VII, VIII, and left X and medulla oblongata.	false
+dbfb2da188df666031031378b1fe3a47bf73015a	Neurovascular compression (NVC) in the posterior fossa is characterized by complex, three-dimensional (3D) neurovascular relationships at the root entry zones (REZ) and other parts of cranial nerves, resulting in syndromes such as trigeminal neuralgia (TN), hemifacial spasm, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4fda73d8b1471c55ce670bdf5875c069355c986c	The further investigations indicated that some other clinical syndromes such as @DISEASE$, disabling positional @PHENOTYPICFEATURE$, tinnitus, geniculate neuarlgia, spasmodic torticolis, essential hypertension, cyclic oculomotor spasm with paresis and superior oblique myokymia also may be initiated by vascular compression of the glossopharyngeal, cochleovestibular, intermediate, accessory, oculomotor and trochlear nerves or the ventrolateral medulla oblongata.	false
+3fde7ba4c5a9980788f8b31b2f026313361327bc	With the exception of one patient who began to show convulsive episodes at 13, no other @DISEASE$ patients exhibited @PHENOTYPICFEATURE$.	false
+82758b9b235d9cbe5436cc161d6dfcea438e9054	Japanese @DISEASE$ patients showed a lower incidence of @PHENOTYPICFEATURE$, while exhibiting a higher incidence of epilepsy.	false
+e7a3066deb5211eba929a84dea61af85c093b89b	As far as our 33 @DISEASE$ patients were concerned, 15% exhibited epilepsy, and 3% experienced @PHENOTYPICFEATURE$.	false
+bfc6c4d977a1de635774bbfad87fedd761becfc5	The @DISEASE$ has been demonstrated to terminate @PHENOTYPICFEATURE$/fibrillation if worn and used correctly.	false
+08152c408fc6272c8e000ac28017201afb7457f4	A three months prospective observational study was used including all hospitalized, non dialyzed, patients older than 17 years who presented with a @PHENOTYPICFEATURE$ @DISEASE$ or over 6 mmol/L.	false
+6ee56a7246d0949df60b91cd8079f2735e053de6	Eighteen patients were affected by @DISEASE$, and 16 patients by @PHENOTYPICFEATURE$.	false
+a9cae68706d9392ece07a48badb3a7d79e478955	We have two young girls with ambiguous external genitals, where we notice hypertrophic clitoris and vaginal hypoplasia, with the diagnosis of @PHENOTYPICFEATURE$ and @DISEASE$ (Morri's Syndrome).	false
+1c06958a11a6531ae2b27aaf27942ac456612240	Furthermore, malignant tumors may be expected in children with @PHENOTYPICFEATURE$ (in 10-20%), pure hermaphroditism (in the testes significantly higher than in the ovaries) and with @DISEASE$.	false
+73219c4e5c783af141e4febf7d02cc368b2d6460	The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, @DISEASE$ (AIS), and @PHENOTYPICFEATURE$.	false
+892cccb02217ff334d364d39c461fa73ecd2d129	These are the candidate genes for testicular or ovotesticular XX DSD and XY DSD, the latter of which includes @PHENOTYPICFEATURE$, @DISEASE$ (AIS), persistent Mullerian duct syndrome and isolated cryptorchidism.	false
+80ff658c335fa792ca7a5d7a42cb0d1141a14a20	Twelve DSD patients (average age, 21.0 +/- 3.6 years old) who had been designated as male in childhood (3 ovotesticular DSD, four 45,XO/46,XY @PHENOTYPICFEATURE$, four 46,XX testicular DSD, and one 46,XY DSD; @DISEASE$) were enrolled.	false
+79ad212b229e4c94e9d2fec23af53639afa8f554	These changes include progressive decline in glomerular filtration rate, enhanced risk and severity of mucositis and @PHENOTYPICFEATURE$, and increased incidence of refractory forms of @DISEASE$.	false
+ae6bd0004d590bd46763e1bef24ca96b9c806dbb	The syndrome of ataxia-pancytopenia is an autosomal dominant disorder characterized by cerebellar ataxia, @PHENOTYPICFEATURE$, pancytopenia and a predilection to myelodysplastic syndrome and @DISEASE$.	false
+6897782bc4ecf43c7de4febfbbd12144863f966d	@PHENOTYPICFEATURE$ caused by high-dose cytosine arabinoside treatment in a patient with @DISEASE$.	false
+f4fd2ab5942e89451becd3540b1505714f0e2ff2	Blood and/or bone marrow cells from patients with hematological malignancies, chronic lymphocytic leukemia (CLL), chronic myeloid leukemia in blastic phase, acute lymphoid leukemia, @DISEASE$, prolymphocytic leukemia, multiple myeloma and @PHENOTYPICFEATURE$, were incubated with Lonidamine at different concentrations (50, 100 and 160 micrograms/ml) for 1-2 h.	false
+d7bcac8fbabaaa31ae9acc0c18ea90cdfbbdd01d	@PHENOTYPICFEATURE$ in a patient with @DISEASE$ and neurological deterioration--quiz case.	false
+f3434e8a65d8e45d3945b8f961c6c5b9463f745a	A 73-year-old female patient with @DISEASE$ (AML) had Mycobacterium abscessus bacteremia with manifestations of multiple @PHENOTYPICFEATURE$, pneumonia, and mediastinal lymphadenopathy 4 months after the implantation of a peripherally inserted central catheter (PICC) for the delivery of chemotherapy.	false
+d86182a1caa6c50f7887e700efef7ca3919d8519	No conclusive evidence exists so far with regards to the role of adipocytokines in @DISEASE$ @PHENOTYPICFEATURE$.	false
+44608fd7a64310f5dee0433bad6223bda7db94e2	Increased plasma ghrelin level in @DISEASE$ @PHENOTYPICFEATURE$.	false
+390080add572a5e542635019e1b73ead33fcd4b8	Clinical study on thalidomide combined with cinobufagin to treat @DISEASE$ @PHENOTYPICFEATURE$.	false
+391444d4131034257f615ad5e63eedbb9ffc6762	@PHENOTYPICFEATURE$ in patients with inoperable @DISEASE$.	false
+ef664f82262a46871ae728561415754da49ead31	We identified differentially expressed miRNAs putatively involved in @DISEASE$ @PHENOTYPICFEATURE$.	false
+0f6fb8a3b9428a156d7992e24be88fc13c1c56ab	Normal protein anabolic response to hyperaminoacidemia in insulin-resistant patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+8e1d76d56814d8e69e8539a09892860d23739d56	To observe the effect of Yiqiyangyin formula on advanced @DISEASE$ @PHENOTYPICFEATURE$ mice.	false
+fa20c3bf20d2daccf42ceb63ad12626f838b399d	Cancer @PHENOTYPICFEATURE$ (CC) is commonly seen in advanced @DISEASE$ patients and associated with poor prognosis.	false
+26ac88b67c3d98bb1386cb81cdde332531fa7cb6	Identification of microRNAs in skeletal muscle associated with @DISEASE$ @PHENOTYPICFEATURE$.	false
+389a80f243499bf2acbb01e7192a7802905c8c6e	@PHENOTYPICFEATURE$ and sarcopenia are associated with poor outcome and increased chemotherapy-induced toxicity in @DISEASE$ patients.	false
+1ee9b34a9c68a1edd447633a832b1a56ad1d64cc	Included were cases of @DISEASE$, Still disease, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+77c9211c16838ac6630c1a406e4513fce9bbf219	The haplotypes evaluated were Ayrshire haplotype 1, Brown Swiss haplotypes 1 and 2, spinal dysmyelination, spinal muscular atrophy, Weaver Syndrome, brachyspina, Holstein cholesterol deficiency, Holstein haplotypes 1 to 5, bovine @DISEASE$, complex vertebral malformation, mulefoot (@PHENOTYPICFEATURE$), and Jersey haplotypes 1 and 2. When causal variants are unknown and tests are based only on single nucleotide polymorphism haplotypes, it can sometimes be difficult to accurately determine carrier status.	false
+479cf11abc3313c5b44765fd7d2618cf0c315a22	Genes and genetic conditions included in this review are bovine @DISEASE$, deficiency of the uridine monophosphate synthase, bovine chronic interstitial nephritis, horn development, myostatin, complex vertebral malformation, leptin, osteopetrosis, apoptosis peptide activating factor 1, chondrodysplastic dwarfism, caseins, calpastatin, umbilical hernia, lactoglobulin, citrullinemia, cholesterol deficiency, prions, thyroglobulin, diacylglycerol acyltransferase, @PHENOTYPICFEATURE$, maple syrup urine disease, slick hair, Factor XI deficiency, and ?-Calpain.	false
+5452ae56574eca2293d01f461300d7b6d51b51a4	Because of their diverse biological actions, AAS have been used to treat a variety of other conditions, including bone marrow failure syndromes, constitutional @PHENOTYPICFEATURE$ in children, and @DISEASE$.	false
+c5df98bf405b5e914618a3971b38c5f459ab36f3	In Experiment 3, in comparison to a control condition, exposure to @DISEASE$ or Fat Rights frames significantly reduced beliefs in the risks of @PHENOTYPICFEATURE$ and support for charging fat people more for insurance.	false
+6866557be5a7870ed9b2fa985ea13d4a13e43e03	The individual with @DISEASE$ displayed microcephaly, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+18d49eeb31322f0a0f3f9a20193e912f6db9d713	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (@DISEASE$), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+39d984d2eb822130640055b4fea108966c50f14d	Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, @DISEASE$ (WABS), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and @PHENOTYPICFEATURE$.	false
+7d63df7b3754c0e8ae154f51b821b181804a83d3	While the novel Y806C was inherited from her father, its carriers (her father and brother) was not affected by MEN 2. In contrast, V804M was a de novo @PHENOTYPICFEATURE$, that has been reported in patients with @DISEASE$.	false
+f516e5f20f5bd867e90ba6abc499fab737a391cb	Chronic motor cortex (MCx) stimulation (@DISEASE$) is an effective approach for patients with chronic, intractable neuropathic @PHENOTYPICFEATURE$.	false
+80bf48fe9b2f2e23fff3f99eb4a586d6b3cfca30	The severe burning pain, deep pressure-like @PHENOTYPICFEATURE$, and deep mechanical allodynia, which presented over the contralateral side to the TBI, were successfully relieved with motor cortex stimulation (@DISEASE$).	false
+97945566a886f8a85a170edc0747ed08ac4ce10b	Indications for @DISEASE$ were left-sided (systemic) heart failure (32%), right-sided (subpulmonary) heart failure (24%), biventricular heart failure (36%), persistent arrhythmia (4%), and @PHENOTYPICFEATURE$ (4%).	false
+1f2d1cb5063cbea47d675f355e5b42f5216652c2	Motor cortex stimulation (@DISEASE$) has been used clinically as a tool for the control for central post-stroke pain and neuropathic facial @PHENOTYPICFEATURE$.	false
+ab0aafa51b0ed93312151f3f9d310d3e4081f8ea	To investigate the efficacy and safety of femtosecond laser-assisted cataract surgery (FLACS) relative to manual @PHENOTYPICFEATURE$ surgery (@DISEASE$).	false
+c7c8dc0debc9f50932a66ff155edee01b3508140	Electrical stimulation of the motor cortex (@DISEASE$) with a quadripolar electrode contralateral to the painful area of the face was attempted in both cases for control of the facial @PHENOTYPICFEATURE$, and resulted in immediate analgesia with more than 50% pain reduction.	false
+1e0e9f1b0fbf586a54cc0e5e14a9b1f22a828399	Recent evidence has suggested possible genetic links to the GEFS+ (generalized epilepsy with @PHENOTYPICFEATURE$ plus) family, and, additionally, some children with structural brain lesions can mimic the @DISEASE$ phenotype.	false
+48cd9d1fd5ba66354564dd4ec853fe870bd13623	Five patients were diagnosed with non-specific epileptic encephalopathy, two with @DISEASE$, two with Lennox-Gastaut syndrome, two with @PHENOTYPICFEATURE$ plus, and one with West syndrome.	false
+c93128e362232140728f37a0a40250721275b94a	To test the hypothesis that meningococcal septicemia-related @PHENOTYPICFEATURE$ is associated with a systemic abnormality of epithelial @DISEASE$ and chloride transport and to investigate an association with hormones regulating Na transport.	false
+88660f6817a409bf68e13ef3c964035228473513	Four patients, including one with @PHENOTYPICFEATURE$, responded to the treatment, whereas two patients, including the one with @DISEASE$ did not.	false
+f80b2acba0c4847667dd1208a957b24c86eb94f1	Identification of the patients with @DISEASE$, in a group of 44 infants being evaluated for neonatal jaundice, improved the overall specificity of hepatobiliary scintigraphy in neonatal jaundice from 65% to 79% and accuracy in identification of patients with @PHENOTYPICFEATURE$ from 82% to 90%.	false
+1ea39964d1b2d8b463d74a282a00c9333db84b59	our patient was found to have @DISEASE$, bilateral @PHENOTYPICFEATURE$, pachygyria, gray matter heterotopia, bilateral choroidal cysts near the brainstem, and persistent primary hyperplastic vitreous.	false
+17002ae5e99b721bc7d648bb633e2eb9c2df3d1f	From these results, we concluded that inflated lung reduced the extent of @PHENOTYPICFEATURE$ after reperfusion and @DISEASE$ was effective in preventing warm ischemic damage even in deflated lung.	false
+5f8943637da34e2df80a314f7665721a353ebb83	A continuous intravenous injection of superoxide dismutase (@DISEASE$) plus catalase or PMN depletion, prevented the development of post-E2 @PHENOTYPICFEATURE$.	false
+c6e12b3a40dcc8ce4edee3dfdaf0ed0aa44b5557	Use of the criterion of absence of [99mTc]IDA activity in the gastrointestinal tract by 24 hr, as well as application of the more recently used criterion of normal hepatic extraction, failed to differentiate patients with @PHENOTYPICFEATURE$ from those with @DISEASE$.	false
+78c08d2374db8e687868529cc45f057309ecf1fd	Two patients had @PHENOTYPICFEATURE$, one had suspected @DISEASE$ and three had no obvious cause for intrahepatic cholestasis other than ongoing CMV infection.	false
+436be5e36586e6575f80c0d2f3806a867f58582f	The diabetic dams presented hyperglycemia, hyperlipemia, hypertriglyceridemia, hypercholesterolemia, @PHENOTYPICFEATURE$, decreased reduced glutathione (GSH), hepatic glycogen and superoxide dismutase (@DISEASE$) determinations.	false
+4433f5a47adfcc036df7e7ea8b9bd5be59fedeea	Patient characteristics included microcephaly (41.5% of patients), seizures (74.1%), bilateral cleft (41.4%), open lip (61.3%), @DISEASE$ (69.1%), and @PHENOTYPICFEATURE$ (60.5%).	false
+1002bb4a17736fc036177d0108441322a810bc34	Characterization of the defect in a patient presenting a @PHENOTYPICFEATURE$ with atypical features of distal motor involvement mimicking @DISEASE$.	false
+68ca9c0feb3367691ffdff175a376389a76fd478	The difficulty in distinguishing @DISEASE$ from @PHENOTYPICFEATURE$ is emphasized.	false
+6bfcd4a8b9fac464fdfbd61d2b8f7bf7fb609991	This article highlights several refractory oral diseases, such as stomatitis, burning mouth syndrome (BMS), glossalgia, atypical facial @PHENOTYPICFEATURE$ (AFP), oral cancer, dry mouth, and Sj?gren's syndrome (@DISEASE$), in which use of Japanese herbal medicines, Kampo medicines (KM), on the basis of Kampo theory could exert the maximum effects on human body.	false
+5976c7afd2677132f6d0d5add4ff63cb6513a400	Lenalidomide cutaneous adverse event: a case of Stevens-Johnson syndrome (@DISEASE$) in a primary plasma cell @PHENOTYPICFEATURE$ patient treated with lenalidomide and dexamethasone.	false
+08927bc6cc034e3da56203ba209622d954ff63d9	To report three cases of bilateral microbial @PHENOTYPICFEATURE$ in eyes with Stevens-Johnson syndrome (@DISEASE$) and toxic epidermal necrolysis (TEN) induced by highly active antiretroviral therapy (HAART) in patients of acquired immune deficiency syndrome (AIDS).	false
+99093bff5aabd1140768413665410c62476dff8a	Symptoms of diplopia, abnormal eyelid signs (retraction, @PHENOTYPICFEATURE$, absent crease), ocular asymmetry (hypoglobus, enophthalmos), and dry eyes from lagophthalmos could all indicate the diagnosis of @DISEASE$.	false
+4cdc4897512b7aac1180ed3d9d8652894ea3dd03	To report a patient with @DISEASE$ (SSS) who experienced transient ipsilateral monocular @PHENOTYPICFEATURE$ during intense laughter.	false
+75e1ed846f846aa71bedf3557d5c6a3cfc28c325	Silencing of the PTEN @PHENOTYPICFEATURE$-suppressor gene in @DISEASE$.	false
+883737b323ed416ca841910d2ae763745ace7c12	@DISEASE$ (ATC) is an aggressive rare @PHENOTYPICFEATURE$.	false
+bb4e96bd0d730ad3f387fe6018f02c16b7e3886f	@DISEASE$ is a rare but nearly universally fatal @PHENOTYPICFEATURE$.	false
+1e9ec00540c7a8a67548a74f71bd9304600a8800	Fine needle aspiration revealed that the @PHENOTYPICFEATURE$ was @DISEASE$.	false
+1289a233a534426724f34e815a760032d29795a0	@DISEASE$ is one of the most aggressive thyroid @PHENOTYPICFEATURE$.	false
+845b72387f5b239f7822789b1adde468241d169c	@DISEASE$ is the most aggressive solid @PHENOTYPICFEATURE$ known to humans.	false
+a87e6c81f1d77dc5b32408e37b34052d3e3b6732	BRAF mutations in @DISEASE$: implications for @PHENOTYPICFEATURE$ origin, diagnosis and treatment.	false
+021d99b530ee205aeae0648b583155fe2eed83ec	Gallium-67 accumulation to the @PHENOTYPICFEATURE$ thrombus in @DISEASE$.	false
+e2a5cf41287141ad66b018d766d04db9accfeafa	Time trend in @PHENOTYPICFEATURE$ size and characteristics of @DISEASE$.	false
+b3d29ca6a1dee84849d2feef4aa84d4227e722fe	Pretherapeutic drug evaluation by @PHENOTYPICFEATURE$ xenografting in @DISEASE$.	false
+715a06cf11e4496eb0b1307611e73c46b26f89d8	@DISEASE$ is an autosomal dominant disorder comprising facial dysmorphism, @PHENOTYPICFEATURE$, and patent ductus arteriosus (PDA).	false
+b505f0eeb307fcbf605d0163f5694d9296755f2c	Mutations in TFAP2B, which encodes a neural crest-derived transcription factor, can cause @DISEASE$, characterized by PDA, facial dysmorphism, and skeletal @PHENOTYPICFEATURE$.	false
+627b5122f411fcc85e18b489247bbe1d6719a2f5	Thus, a positional cloning strategy was undertaken to determine the gene responsible for the @DISEASE$, an autosomal dominant disorder characterized by PDA, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+38516cf02e328543a198e0cfe0270277f38c19ac	@DISEASE$ is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and @PHENOTYPICFEATURE$.	false
+88df72ba21de860a2fa22037cef36e9a1ea31951	Mutations in transcription factor TFAP2B cause @DISEASE$, a human disorder characterized by PDA, facial dysmorphysm and @PHENOTYPICFEATURE$.	false
+a7e92a9960229beb8d7b7968ae3756c4f0b9ba52	@DISEASE$ (FIPA) is an autosomal dominant disease, characterized by low penetrance, early-onset disease, more invasive @PHENOTYPICFEATURE$ growth, as well as somatotroph and lactotroph adenomas in most cases.	false
+125cdaed351991d22033cc5c58c8c490388cba42	However, it is not clear whether FIP200 is also required for maintaining @PHENOTYPICFEATURE$ growth and how the increased p62 level affects the growth in autophagy-deficient @DISEASE$200-null tumors in vivo.	false
+707e35fc7ea2090205b99caba3b262268719bd73	However, it is not clear whether FIP200 is also required for maintaining tumor growth and how the increased p62 level affects the growth in autophagy-deficient @DISEASE$200-null @PHENOTYPICFEATURE$ in vivo.	false
+94af3dad815963b2ecae99218d4744a19ed6f629	The present study shows that: (1) the ratio of peripheral blood sIg(+) CD21(-) B-cells was higher in cats with FIP than in SPF cats, (2) the albumin-to-globulin ratio has negative correlation with the ratio of peripheral blood sIg(+) CD21(-) B-cell, (3) cells strongly expressing mRNA of the plasma cell master gene, B-lymphocyte-induced maturation protein 1 (Blimp-1), were increased in peripheral blood in cats with FIP, (4) mRNA expression of B-cell differentiation/survival factors, IL-6, CD40 ligand, and B-cell-activating factor belonging to the @PHENOTYPICFEATURE$ necrosis factor family (BAFF), was enhanced in macrophages in cats with @DISEASE$, and (5) mRNAs of these B-cell differentiation/survival factors were overexpressed in antibody-dependent enhancement (ADE)-induced macrophages.	false
+2760b124459028f3bcb79eb204cc972ba3c15fdb	The present study shows that: (1) the ratio of peripheral blood sIg(+) CD21(-) B-cells was higher in cats with @DISEASE$ than in SPF cats, (2) the albumin-to-globulin ratio has negative correlation with the ratio of peripheral blood sIg(+) CD21(-) B-cell, (3) cells strongly expressing mRNA of the plasma cell master gene, B-lymphocyte-induced maturation protein 1 (Blimp-1), were increased in peripheral blood in cats with FIP, (4) mRNA expression of B-cell differentiation/survival factors, IL-6, CD40 ligand, and B-cell-activating factor belonging to the @PHENOTYPICFEATURE$ necrosis factor family (BAFF), was enhanced in macrophages in cats with FIP, and (5) mRNAs of these B-cell differentiation/survival factors were overexpressed in antibody-dependent enhancement (ADE)-induced macrophages.	false
+680a2d285686b7d3c8c8aad3804269a981ceccae	Using similar strategies, we further showed that either p62 knockdown or p62 deficiency in established @DISEASE$200-null @PHENOTYPICFEATURE$ dramatically impaired tumor growth.	false
+42730bf5d07e8ad7ee471e0dd32b2c6b3e6aee01	Using similar strategies, we further showed that either p62 knockdown or p62 deficiency in established @DISEASE$200-null tumors dramatically impaired @PHENOTYPICFEATURE$ growth.	false
+d315d02ea4a9d91d3e23fce727fcf13afdf36c78	Germline mutations in the aryl hydrocarbon receptor-interacting protein gene (AIP) predispose to young-onset pituitary @PHENOTYPICFEATURE$, most often to GH- or prolactin-secreting adenomas, and most of these patients belong to @DISEASE$ families.	false
+be8284d1a619d0a79ebaba4a8c5b3050fa0181db	The stimulation of @PHENOTYPICFEATURE$ growth by p62 accumulation in @DISEASE$200-null tumors is associated with the up-regulated activation of the NF-?B pathway by p62.	false
+84b44ab81d6372806fc9aa8cc70ab7624ec31662	The stimulation of tumor growth by p62 accumulation in @DISEASE$200-null @PHENOTYPICFEATURE$ is associated with the up-regulated activation of the NF-?B pathway by p62.	false
+935f56b911bb08a35b981c4f8028121df85a9eb5	Over the last decade we have described non-MEN1/CNC familial pituitary @PHENOTYPICFEATURE$ that include all tumour phenotypes, a condition named '@DISEASE$' (FIPA).	false
+9c0a83f8a3a2f36f51fc4249dd8001ec1b02ad83	Over the last decade we have described non-MEN1/CNC familial pituitary tumours that include all @PHENOTYPICFEATURE$ phenotypes, a condition named '@DISEASE$' (FIPA).	false
+bb51c9c351ec02fa24bb515e52a0926e3baee101	The recently identified gene AIP can also cause @DISEASE$, but no other specific @PHENOTYPICFEATURE$ is associated with this syndrome.	false
+1f7cf6409bde98d4491dd192798cb5bff8296010	Non-syndromic forms, which include @DISEASE$ (FIPA) and sporadic @PHENOTYPICFEATURE$, have been shown to be due to abnormalities of: the aryl hydrocarbon receptor-interacting protein; Gs?; signal transducers; cell cycle regulators; transcriptional modulators and miRNAs.	false
+23a390bd16ab027455160fbbc6f99eeb4346ce85	Since the late 1990s, we have described non-MEN1/CNC familial pituitary tumors that include all @PHENOTYPICFEATURE$ phenotypes and have named this condition '@DISEASE$' (FIPA).	false
+dd3f0e53614e447c64d3a398756dd6ae86608bcb	@DISEASE$-positive @PHENOTYPICFEATURE$ were also associated with p53 (P = 0.002), Bcl-2 (P = 0.04), and nuclear survivin (P = 0.03) expression.	false
+04921e196203f81085783ecf3857307e40cfc3b4	This mechanism could also be active in vivo since primary ovarian @PHENOTYPICFEATURE$ contain type II @DISEASE$.	false
+e4a806207c93549a2dad7ba4ac032d2afe50e847	Cases with an EBV-EBER-positive lymphoma had higher EBV viral loads than those with @DISEASE$-negative @PHENOTYPICFEATURE$.	false
+86ea56a2aca294ad72d5173e75dbe856fd3346d4	Two patients with @DISEASE$ type and giant solid @PHENOTYPICFEATURE$ died after operation.	false
+5f58d4b84e7bccd44290166f76095a1302be61d8	Appreciable amounts of type II @DISEASE$ were also detected in seven primary ovarian @PHENOTYPICFEATURE$.	false
+2900836130edf744fa65fad4f35694e7144f7225	In this paper, we report of the result of the first 100 @DISEASE$ patients referred for further investigation of mediastinal adenopathy or @PHENOTYPICFEATURE$ found via CT.	false
+611225e5a618bdec0b317dd405e4120560a86aad	Eagle Barrett syndrome (@DISEASE$) is characterized by the triad of abdominal muscle deficiency, @PHENOTYPICFEATURE$, and cryptorchidism.	false
+0d24b8664e3f1561188512ba540f198b9831e555	The presence of Type II @DISEASE$ in ovarian cancer could be of clinical importance since it has been demonstrated that bioflavonoids, through the interaction with Type II EBS, may exert a growth inhibitory activity both alone or in combination with chemotherapeutic agents on ovarian cancer cell lines and primary @PHENOTYPICFEATURE$.	false
+8b0c505c9948bf059fdbff245483b4d83daace1d	The presence of Type II EBS in ovarian cancer could be of clinical importance since it has been demonstrated that bioflavonoids, through the interaction with Type II @DISEASE$, may exert a growth inhibitory activity both alone or in combination with chemotherapeutic agents on ovarian cancer cell lines and primary @PHENOTYPICFEATURE$.	false
+d284580de01edc444cd28a07ee4ab216c1a4d96a	The biological and clinical significance of low levels of circulating EBV DNA in the minority of patients with @DISEASE$-negative @PHENOTYPICFEATURE$ remain to be elucidated.	false
+d5480af51265ee5ac8df5b9f8bc499ab2f54a735	Plasma EBV DNA was detected in all of the patients with @DISEASE$-positive @PHENOTYPICFEATURE$, and in 23 of 94 (24.5%) patients with tumors of EBER-negative or unknown status.	false
+ed5bd96c91d4f4586ad2093f101505a75e2fa404	Plasma EBV DNA was detected in all of the patients with @DISEASE$-positive tumors, and in 23 of 94 (24.5%) patients with @PHENOTYPICFEATURE$ of EBER-negative or unknown status.	false
+358c86e902cbfacd7b8cfbcc0f9a9cfbe9c8d3d8	Patients deficient in this enzyme exhibit @DISEASE$ with episodic hyperammonemia and long-term effects of mental retardation and @PHENOTYPICFEATURE$.	false
+3f3ba2c0841e943bead0e030640fa62f0ee1f7d6	Hyperammonemic @PHENOTYPICFEATURE$ is rare in @DISEASE$.	false
+70ae7fcc46ccbcab7aaf5d2f6a3590fd04f73b23	@DISEASE$ commonly manifests as regression, failure to thrive, @PHENOTYPICFEATURE$, seizures with or without microcephaly.	false
+2f3d6fbb91837a279c2fb49ed7d19f25a70b58b9	@DISEASE$ is an urea cycle disorder that generally presents with mental retardation and @PHENOTYPICFEATURE$, yet uncommonly with episodes of hyperammonemia.	false
+7af676fef146cf7d9e0b56cf7c77ecc3cd5cdb7e	Human arginase deficiency is characterized by @DISEASE$ and infrequent episodes of hyperammonemia, which lead to neurological impairment with @PHENOTYPICFEATURE$, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	false
+63ccbe5312c6fe5eabbdca2ca62e27eb6ecd138e	Human @DISEASE$ is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with @PHENOTYPICFEATURE$, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder.	false
+49216152bee7b5b31a98eb66ca2103627404279c	In humans, inherited deficiency of hepatic or type I arginase results in @DISEASE$, a syndrome characterized by periodic episodes of hyperammonemia, @PHENOTYPICFEATURE$, and neurological deterioration.	false
+e3170dbba88b86f332f6fb66af15db230afaeca6	Late onset @DISEASE$ presenting with @PHENOTYPICFEATURE$ and midbrain hyperintensity.	false
+4c4e68088e069d0af76e1041d9415181f6996384	In contrast, @DISEASE$ found in patients with arginase 1 deficiency is associated with pyramidal tract findings and @PHENOTYPICFEATURE$, without significant hyperammonemia.	false
+9ff97e1d8f14b516092934a780c7d3b847246925	In contrast to other urea cycle disorders, hyperammonemic @PHENOTYPICFEATURE$ is rarely observed in patients with @DISEASE$.	false
+0ca725405b15ecbca7e0a151b0cf70be456f660e	Deficiency of liver arginase (AI) is characterized clinically by @DISEASE$, progressive mental impairment, growth retardation, @PHENOTYPICFEATURE$, and periodic episodes of hyperammonemia.	false
+f2475f218f6ee4516dd4e2fed704bb751300185b	In the PH, LRS, and @DISEASE$ groups, phosgene inhalation caused serious @PHENOTYPICFEATURE$, W/D and LC, lung tissue GSSG, BALF MDA, and protein content increased significantly.	false
+3eda294468d84d2182980f05e9a5f49dcb9039a1	Intravenous @DISEASE$ infusion after phosgene exposure can clearly lessen phosgene-induced @PHENOTYPICFEATURE$ formation, lipid peroxidatic reaction, and ameliorate hypoxemia associated with phosgenismus; it is a safe, simple, and effective measure to protect animals from phosgene-induced lung injury.	false
+6f834571ca819c701b02ead3b1617c1c601bf819	@DISEASE$ (YVS, MIM 216340) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and severe neurological impairment with vacuolation of the central nervous system, skeletal muscles and cartilages.	false
+4e12eea2202802ff45312ee141b4e0cadf29f73d	@DISEASE$ is a rare autosomal recessive disorder with characteristic facial features and @PHENOTYPICFEATURE$.	false
+fa2667e7692525719c0346c9aad79511056ca8e0	The @DISEASE$ is a rare hereditary disorder with ectodermal and @PHENOTYPICFEATURE$ that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death.	false
+a0ad5c81dc0a545131fb8235d26b8051da7f93a6	We report the case of a 61-year-old man with isolated @DISEASE$ who presented with musculoskeletal symptoms, including @PHENOTYPICFEATURE$.	false
+b950cf566729498d0892dacbdfaf1aaacaaf648b	We present a 73-year-old man with isolated @DISEASE$ and "@PHENOTYPICFEATURE$" syndrome along with a review of the relevant literature.	false
+91dab5047aa8ec830ad21f9c63274de96028ac7b	This review will address genetic causes of @DISEASE$, thyroid stimulating hormone deficiency, growth hormone deficiency, @PHENOTYPICFEATURE$, and diabetes insipidus.	false
+86a6e4a282ce5ffd0e7aff745a914b7f40a10403	Although the number of reported cases has been recently increasing, isolated @DISEASE$ combined with malignant @PHENOTYPICFEATURE$ is very rare.	false
+4231e28c65c4fed8224e98f33e87cfbade47a677	@DISEASE$ for chromosome 7 (matUPD7) results in Silver-Russell syndrome (SRS) with typical features and @PHENOTYPICFEATURE$, but no gene has been conclusively implicated in SRS.	false
+bce9926fc0430c3de52902984cefcd3af396f4b3	Findings in @DISEASE$(14) ("Temple") syndrome show an age-dependent overlap with the well-known maternal UPD(15) (Prader-Willi) syndrome and are dominated by initial failure to thrive followed by @PHENOTYPICFEATURE$, learning difficulties and precocious puberty.	false
+48a19526a697ce75e146c87aeac88b20734c3fc4	Inadequately low serum levels of steroid hormones in relation to interleukin-6 and @PHENOTYPICFEATURE$ necrosis factor in untreated patients with early rheumatoid arthritis and @DISEASE$.	false
+2334dd9e62d5fcf663ab8ae9070501ec4b0f565f	We report the case of @DISEASE$ following a Chlamydia urinary tract infection progressing to a chronic course, treated with a short course of high dose @PHENOTYPICFEATURE$ necrosis factor antagonist, followed up for over 2 years with prolonged remission, allowing discontinuation of disease modifying antirheumatic drug therapy.	false
+fb1e9630833a148ab5d89b2e560a0312ae90e733	The purpose was to study @PHENOTYPICFEATURE$ necrosis factor (TNF)-a, -b and -c microsatellites as potential new susceptibility markers for @DISEASE$ (ReA).	false
+00be2923ea329636e77bb36c255dfbad29b9a5bc	The seronegative spondyloarthropathy (SNSA) syndromes, previously believed to be "@PHENOTYPICFEATURE$ variants," eg, @DISEASE$ and psoriatic arthritis, are now considered to be genetically separate from RA and have been shown to be closely associated with HLA-B27.	false
+a05a80c639bf5cd47795bdc6db1011dc0a603c4c	Peripheral blood monocytes from patients with @DISEASE$ show normal production of @PHENOTYPICFEATURE$ necrosis factor-alpha.	false
+0fae97602a238a8fbec0f964d7658c494e7a0db9	There is a limited data about the use of @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) blockers in @DISEASE$.	false
+447afeef3ad50b5d0ca1bab0577dc15000fc95c3	A Th2 cytokine pattern (low @PHENOTYPICFEATURE$ necrosis factor [TNF]-TNF-alpha low interferon [IFN]-gamma, and high interleukin [IL]-10) dominates in the joints of @DISEASE$ patients.	false
+ebba3957344992705cf9762d84238ec274d73867	Numerous agents are transmitted in food and water and typically result in acute gastroenteritis, although long-term complications such as @DISEASE$ (due to Salmonella, Yersinia, and Shigella organisms), Guillain-Barr? syndrome (due to Campylobacter organisms), and @PHENOTYPICFEATURE$ (due to Escherichia coli) are now well recognized.	false
+4f446f88031e8496ae9e3e31f8639551c397659a	We describe three patients with benign partial epilepsy with centrotemporal spikes (BECT) in association with proven brain lesion (@PHENOTYPICFEATURE$, lipoma of the corpus callosum, and @DISEASE$, respectively).	false
+a5bbe5d821b51e4a2213e7998d7dd7ed12299806	These measures will decrease the incidence of both eye disease and the more severe manifestations of @DISEASE$, which include congenital abnormalities, @PHENOTYPICFEATURE$, hydrocephalus and blindness.	false
+0b05895a4a932b2d606db7212f1e5ba9b644293b	@DISEASE$ causes blindness and @PHENOTYPICFEATURE$.	false
+d238054f57b4f269161117424f3544c60606a6f3	This 43 year-old woman with @DISEASE$ developed progressive leg @PHENOTYPICFEATURE$, weakness, numbness, difficulty walking, and decreased visual acuity and color vision without documented re-activation of her chorioretinal disease.	false
+63ddd157cc991156378069a1a34d22eb640d5788	Clinical findings in patients with @DISEASE$ may include: chorioretinitis and other ocular findings, central nervous system abnormalities (such as microcephaly, hydrocephalus, encephalomyelitis, seizures and @PHENOTYPICFEATURE$), icterus, hepatosplenomegaly, rash, anemia, erythroblastosis, thrombopenia.	false
+23c31eed107b3b66237e47392aa17c1400c68e35	Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and @DISEASE$), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and @PHENOTYPICFEATURE$-jaw tumour syndrome).	false
+ff97e1e089c3aa3e25727aeb544739cdae09f3be	In neurology, main phenotypes include certain forms of epilepsy, @PHENOTYPICFEATURE$, migraine, neuropathic @DISEASE$, and muscle weakness including myasthenia and periodic paralyses.	false
+33ab7009bee41455b090927af919d13acc8c9030	Four patients with early type posttransplant @PHENOTYPICFEATURE$ were alive, and 3 of 4 patients with T-cell monomorphic posttransplant @DISEASE$ died shortly after diagnosis.	false
+fbc5fb65ba855fc972e512aca8f9953202af7374	@DISEASE$ (ZS) is the prototype of peroxisomal disorders characterized by craniofacial dysmorphism and severe @PHENOTYPICFEATURE$.	false
+869c0daeb9b209e8f4d7ce6df059ff240a0b4254	In @DISEASE$, serious @PHENOTYPICFEATURE$ can be observed in the patients and the respective knockout mouse models.	false
+db91155e0d8b6c28405f3945a6d8eb12ace5643b	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes @DISEASE$, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+18e12e03439a7ed61082fc0fc0331bd47feb5553	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (@DISEASE$), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+b13180dbff8f5d5261d06ab2096f6e6d24c4e712	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and transaldolase deficiency, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (@DISEASE$), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+c5d7cca5eacb02125679e1cc172e9a69000be301	By chromosomal breakpoint mapping in a patient with a Noonan syndrome-like phenotype that encompassed @PHENOTYPICFEATURE$, blepharoptosis, and attention deficit hyperactivity disorder, we identified haploinsufficiency of the histone acetyltransferase gene MYST histone acetyltransferase (@DISEASE$) 4 (MYST4), as the underlying cause of the phenotype.	false
+2f906f91edd1f8bc3160c214ecf4d0c3a2e2c509	Cochlear implantation in a profoundly @PHENOTYPICFEATURE$ patient with @DISEASE$.	false
+c6b99b555f4cf91993dbb7006562914d1096dfd2	@DISEASE$ presenting with seizure and @PHENOTYPICFEATURE$ in a Malawian boy.	false
+35692c2dc31eecffc2e8c85d41648019f5a15d9d	This mutation is associated with the @DISEASE$ (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), diabetes and @PHENOTYPICFEATURE$.	false
+bb4fd5a445b8250efafd86633b647fe4840b3e16	This mutation is associated with the MELAS syndrome (@DISEASE$), diabetes and @PHENOTYPICFEATURE$.	false
+2f906f91edd1f8bc3160c214ecf4d0c3a2e2c509	Cochlear implantation in a profoundly @PHENOTYPICFEATURE$ patient with @DISEASE$.	false
+04c7e1242ca73e78b859a7a564287a611103d447	A-to-G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus-@PHENOTYPICFEATURE$ syndrome, and @DISEASE$.	false
+ffa183a4bf2730289574e5207dd19d47ff341eb4	It is the most frequent cause (80%) of the MELAS syndrome (@DISEASE$), but it can also lead in addition or separately to type 2 diabetes, @PHENOTYPICFEATURE$, renal tubulopathy and/or cardiomyopathy.	false
+91366582f0e43cbc0c8481ad1289ef901e702166	It is the most frequent cause (80%) of the @DISEASE$ (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), but it can also lead in addition or separately to type 2 diabetes, @PHENOTYPICFEATURE$, renal tubulopathy and/or cardiomyopathy.	false
+0de1932a5eaf969da8bb39d7cb69eba66edc0f33	@DISEASE$ (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a rare genetic mitochondrial disease which can cause cerebral (cerebrovascular accident, migraine, mental deterioration..), sensorial (bilateral symmetrical deafness) and peripheral (muscular involvement, neuropathy) disorders potentially associated with diabetes, renal or cardiac disorders, or @PHENOTYPICFEATURE$.	false
+52c1e83e58a2105a4c73a67f3ad27be282f603e9	@DISEASE$ (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a rare genetic mitochondrial disease which can cause cerebral (cerebrovascular accident, migraine, mental deterioration..), sensorial (bilateral symmetrical @PHENOTYPICFEATURE$) and peripheral (muscular involvement, neuropathy) disorders potentially associated with diabetes, renal or cardiac disorders, or growth retardation.	false
+62610b35e296f7cf8bd11f8f1dd2283fa2594fc4	Moreover, patients with @DISEASE$ should be monitored for @PHENOTYPICFEATURE$ including cardiomyopathy and WPW syndrome.	false
+4428569a9624e5c3653fd7ddb2297b326b3a3099	We report here an 11-year-old boy with @DISEASE$ who presented with subacute @PHENOTYPICFEATURE$ after waking up from sleep.	false
+d01194cbad104b8d0e6231b048bbf3f2d241a80d	We suggest it was rather a complicated form of diabetes-@PHENOTYPICFEATURE$ than a incomplete @DISEASE$ associated with mitochondrial diabetes.	false
+586f540e32a9ca665ee0e72c656a26b58e51a7be	Other recent examples of beneficial effects of geologic materials and processes include epidemiological studies in Japan that have identified a wide range of health problems (such as muscle and @PHENOTYPICFEATURE$, hemorrhoids, burns, gout, etc.) that may be treated by one or more of nine chemically distinct types of hot springs, and a study in China indicating that residential coal combustion may be mobilizing sufficient iodine to prevent iodine @DISEASE$.	false
+f9de07205599707adff30b3551e87402417d927f	It has been argued that the @DISEASE$-junction @PHENOTYPICFEATURE$ suppressive effect may depend specifically on the connexin type which is expressed.	false
+834e21d50c0eb7b8f51ede1596fc614603f31739	@DISEASE$: a case complicated by @PHENOTYPICFEATURE$.	false
+1cab23ae3cce6131399ea4738d97c160f2f71316	@DISEASE$ in 4%, right ventricular arrhythmogenic @PHENOTYPICFEATURE$ in 2%, and miscellaneous disorders in 9% of patients.	false
+bb00fd8011974bdb3daaabd7d1204146c11ca779	@DISEASE$ (BrS) is a common genetic cause of @PHENOTYPICFEATURE$ (SCA) due to polymorphic ventricular tachycardia and ventricular fibrillation.	false
+b00caf08a1522fd8031e3a4d962e1b176dbd90eb	@DISEASE$ is included among the channelopathies, primary electrical disorders that, characteristically, are not associated with concomitant structural @PHENOTYPICFEATURE$.	false
+bc45dc6875f9cce0bfb29d1ca72d8f56a899105a	Atrial fibrillation and recurrent ventricular fibrillation during @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2be177e701cf394fad0b7631fe38e715e9fff876	@DISEASE$ and calcium channel mutation in a patient with @PHENOTYPICFEATURE$ mutism.	false
+70ac01f90214e86d98222081e33f0a5cb8abf197	@DISEASE$ is an inherited cardiac condition with the potential for development of life-threatening arrhythmias in relatively young individuals without significant structural @PHENOTYPICFEATURE$.	false
+a7e5579017710cd18846b3a62fcd8ac5f2c694b6	Diseases such as the sick sinus and the @DISEASE$ are @PHENOTYPICFEATURE$, which can be caused by a number of genetic aberrances.	false
+4f05a7678eb480fed8642e74453d39654fb4c81d	Therefore, @PHENOTYPICFEATURE$-hypopnea syndrome should be considered as a rare differential diagnosis for @DISEASE$.	false
+d8471d85efc7f9a3ab891e66a37fedfc5164f264	After genetic screening, drug challenge test and polysomnography examination, we ruled out @DISEASE$ and identified @PHENOTYPICFEATURE$-hypopnea syndrome.	false
+27fd7611718ff235ff175d58c8c467a699ac4cba	@DISEASE$ is an established cause of sudden cardiac arrest in patients without structural @PHENOTYPICFEATURE$.	false
+18b40169142079f7a6495b91b01d56cc462d67b0	Mental retardation, hypotonia, obesity, ocular, facial, dental, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a6f4501efdf799dda3003b3b6b4eaded602965a4	The recent emergence of a novel human coronavirus (HCoV-EMC) in the Middle East raised considerable concerns, as it is associated with severe acute pneumonia, @PHENOTYPICFEATURE$, and fatal outcome and thus resembles the clinical presentation of @DISEASE$ (SARS) observed in 2002 and 2003.	false
+2ccb5e34c5564d3d41e2c0b55a566ae51f8df0f4	More pregnant @DISEASE$ patients developed @PHENOTYPICFEATURE$ (P= 0.006) and disseminated intravascular coagulopathy (P= 0.006), as compared with non-pregnant SARS group.	false
+d36a74c82fb474a9607e97a69601ef984a85648c	Mutations in SPG7 cause the autosomal recessive @DISEASE$ (SPG7), but recent studies indicate that they are also one of the most common causes of recessive @PHENOTYPICFEATURE$.	false
+f867cf65201ce136a11dc21ec438870af5212304	These include Friedreich @PHENOTYPICFEATURE$, @DISEASE$-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and spectrin repeat-containing nuclear envelope protein (SYNE)-related ataxia.	false
+ae44ece54e7cd641aea8ff0ff0071adf4c0d8c1d	These include Friedreich ataxia, @DISEASE$-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and spectrin repeat-containing nuclear envelope protein (SYNE)-related @PHENOTYPICFEATURE$.	false
+d42c547fae08be0378b2fcf4ac9c4cf4b694a356	These include Friedreich ataxia, @DISEASE$-related @PHENOTYPICFEATURE$, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and spectrin repeat-containing nuclear envelope protein (SYNE)-related ataxia.	false
+098e8181ff56b19e54b9d589c4c715a78c1952af	Autosomal recessive @PHENOTYPICFEATURE$ of Charlevoix-Saguenay, late-onset Friedreich ataxia, and @DISEASE$ are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark.	false
+27b0b351b5d95a55be78b9153623dd733264ce07	Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich @PHENOTYPICFEATURE$, and @DISEASE$ are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark.	false
+80c5be73c85a0c39d76b600e87dde7eb80d45cef	This case control study involving 143 children between 2 and 6 y with autism as @DISEASE$ CARS criteria and a control group of 200 normal children has shown that excess fetal movement, maternal respiratory infection/asthma, maternal vaginal infection, maternal hypothyroidism and family history of neuro-developmental disorders are possible risk factors for @PHENOTYPICFEATURE$.	false
+45192ae1805604c5ff1247977e8d2c25f360d161	This case control study involving 143 children between 2 and 6 y with @PHENOTYPICFEATURE$ as @DISEASE$ CARS criteria and a control group of 200 normal children has shown that excess fetal movement, maternal respiratory infection/asthma, maternal vaginal infection, maternal hypothyroidism and family history of neuro-developmental disorders are possible risk factors for autism.	false
+23725c30e2eebe30f9ea3824415d7c3a586c69d8	This case control study was undertaken at the autism clinic of CDC Kerala, comparing possible risk factors for autism among 143 children between 2 and 6 y with @PHENOTYPICFEATURE$ as @DISEASE$ CARS criteria and a control group of 200 normal children of the same age from well-baby/immunization clinic of SAT hospital.	false
+68c74f7e0d7d08a2c3d04e50976dedde35b0da88	This case control study was undertaken at the autism clinic of CDC Kerala, comparing possible risk factors for @PHENOTYPICFEATURE$ among 143 children between 2 and 6 y with autism as @DISEASE$ CARS criteria and a control group of 200 normal children of the same age from well-baby/immunization clinic of SAT hospital.	false
+587f312184e70ebee7ec653d6adfe3acc9c55a0f	This case control study involving 143 children between 2 and 6 y with @PHENOTYPICFEATURE$ as @DISEASE$ CARS criteria and a control group of 200 normal children has shown that early child care practices at home, specifically breastfeeding duration nil/ < 6 mo, child does not play with children of same age, do not tell stories/sing songs to the child and no outings for the child are possible risk factors for autism.	false
+5119fb8e03e13ed144d174ab6b3ebf9814e7a3a1	This case control study involving 143 children between 2 and 6 y with autism as @DISEASE$ CARS criteria and a control group of 200 normal children has shown that early child care practices at home, specifically breastfeeding duration nil/ < 6 mo, child does not play with children of same age, do not tell stories/sing songs to the child and no outings for the child are possible risk factors for @PHENOTYPICFEATURE$.	false
+e8dd4a4cb208c4a874205de4e16623088973a992	This case control study involving 143 children between 2 and 6?y with autism as @DISEASE$ CARS criteria and a control group of 200 normal children has shown that upper and upper middle socioeconomic status and (ii) male gender are significant risk factors for @PHENOTYPICFEATURE$, whereas place of residence, rule is a protective factor.	false
+1a71db0979930d25a6a80d9f10298139285d9da3	The presence of granulomas at diagnosis was associated with @DISEASE$ disease, gastritis, @PHENOTYPICFEATURE$, anti-Saccharomyces cerevisiae antibodies, and infliximab treatment.	false
+9be00f0d1bb752ac5d244cf89ddc81d4f1556990	@DISEASE$ with @PHENOTYPICFEATURE$ and paroxysmal dyskinesia in 2 brothers.	false
+41d5b46736b10e56fb394031ff519d9e8c53b00d	[Combined @DISEASE$-lysinuria in 2 brothers with @PHENOTYPICFEATURE$ and morphologic and neurologic anomalies].	false
+2dc1c8f00bfe5ad8c097920da6c5c0d2efd298a7	This report presents a 13-yr-old boy with @DISEASE$ who manifested difficulty in walking, @PHENOTYPICFEATURE$, and mental retardation.	false
+b17df46382dfb4b9587fd02ce4b7f1d66bda2fcd	This report presents a 13-yr-old boy with @DISEASE$ who manifested difficulty in walking, ataxia, and @PHENOTYPICFEATURE$.	false
+75f56d580d1045d1cc4c8cd82047a73344e40599	siblings are suffering from @PHENOTYPICFEATURE$, dwarfism, incomplete renal tubular acidosis and primary @DISEASE$.	false
+0ec69cbe11aad4d2798a42740bdab1c94eb44454	Non-type I @DISEASE$ associated with @PHENOTYPICFEATURE$ and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.	false
+1af2bf78a0d79bf6b69bd87482c1ef88728c24a3	Non-type I @DISEASE$ associated with mental retardation and @PHENOTYPICFEATURE$ in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.	false
+18b904a8782e0ad9c4e47b55a7021872f7a4dc19	Since cystinuria is a heterogeneous disease, the findings of the present study could be reconciled with previous findings by supposing that only certain genotypes for @DISEASE$ lead to @PHENOTYPICFEATURE$.	false
+ac7ccbeba0d897e8599be2a2112d7d5304f19f23	Since @DISEASE$ is a heterogeneous disease, the findings of the present study could be reconciled with previous findings by supposing that only certain genotypes for cystinuria lead to @PHENOTYPICFEATURE$.	false
+1c6697f5172f1a11cb8b0f1b35c431ecf426688a	A case of @DISEASE$ presenting with @PHENOTYPICFEATURE$ and dementia.	false
+c210479887eb07e266d2b06615ccd2cd1af565a7	The possibility that @PHENOTYPICFEATURE$ has been induced or aggravated by @DISEASE$ cannot be excluded.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ab58f95aaeaa4c16989ef856d314d3f22e0521a	@DISEASE$ and its relationship to @PHENOTYPICFEATURE$.	false
+fb7f232c0a852d468be420c989e9335c3d604d9f	There are similarities to @DISEASE$, but @PHENOTYPICFEATURE$ has not been described previously in that condition.	false
+d52c70de7292f65a3510678b910d3f39437048ad	@DISEASE$ were more frequently female, anemic, functionally dependent, nonsmokers, had chronic obstructive pulmonary disease, recent @PHENOTYPICFEATURE$ exacerbation, and open baseline wounds.	false
+03910b51b8ea798911909d03c211e65ea2f6a88a	The broad categories of conditions that should be considered in the differential diagnosis of musculoskeletal symptoms include rheumatic diseases, chronic pain syndromes, systemic vasculitides, infections, overuse syndromes, specific orthopedic conditions, @DISEASE$, neoplasms of connective tissue and bone, psychosomatic disorders, @PHENOTYPICFEATURE$, and primary muscle disease.	false
+70d800778cebbaa5c6fc592a4d2ddee88cee5754	Digital and dental malformation and @PHENOTYPICFEATURE$ in a patient with neurological problems: a variant of the @DISEASE$ syndrome or a new syndrome?	false
+c1f212414886e5a4866479bf26b360e0316423d3	In this study, a 5-yr-old boy with chief complaint of early tooth loss despite having @PHENOTYPICFEATURE$ in left eye and palmar keratosis is reported, although he had some other manifestation of @DISEASE$ (ODDD) like ataxia, dysarthria and nail deformity, ignoring other extra and intra oral finding.	false
+a73383dae3f2be12265363e14b3aebfed7712124	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+26c0340d360c7180a93c78be15a3adf52e2885ea	To determine how a disease-linked Cx43 mutation affects myometrial function, we studied a mutant mouse model carrying an autosomal dominant @PHENOTYPICFEATURE$ (Gja1(Jrt)) in the gene encoding Cx43 that displays features of the human genetic disease @DISEASE$.	false
+d1ebd1a145fb97634a82d5b4ef44c01c1f54135f	@DISEASE$ with @PHENOTYPICFEATURE$ is rare.	false
+ebbcbd325c1b2140114cd6e62d4a6f56868c3016	Cognitive dysfunction in patients with @DISEASE$ and @PHENOTYPICFEATURE$: evidence for a dysexecutive syndrome?	false
+6c2e3e8c79e6147436ed2bd8b3ee89a174e5be55	Clinical and radiological evaluation revealed @DISEASE$, @PHENOTYPICFEATURE$, prosencephalic cyst, and cranial vault deficiency with supernumerary nostril on the left side.	false
+0700274b51f261a8d824af994cc2f278bedc588e	Sub-groups of patients with @DISEASE$ and/or @PHENOTYPICFEATURE$ were assessed between 1995 and 2003.	false
+fb78cba41dc622e1a8147895632f81b18c1e2508	Epidemiology of anencephalus, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+999033880266a1b2da1bc7074b9ae28f2c5895f9	Diffuse polymicrogyria associated with @DISEASE$, craniosynostosis, @PHENOTYPICFEATURE$, and minor facial and genital anomalies.	false
+23a30fd072588bb2bf23d75daaa26fbe226b9f56	The breakdown of the observed malformations was as follow: clubbed foot nine, @DISEASE$ eight, spina bifida six, cleft lip four, encephalocele two, @PHENOTYPICFEATURE$ two, imperforated anus two, Anencephaly one, lymphangioma one, bladder exstrophy one.	false
+52082ff41bb493875e6ca468ebb31b05618202f7	The breakdown of the observed malformations was as follow: clubbed foot nine, @DISEASE$ eight, @PHENOTYPICFEATURE$ six, cleft lip four, encephalocele two, syndactyly two, imperforated anus two, Anencephaly one, lymphangioma one, bladder exstrophy one.	false
+a7262521b2c2eaed04f3338c6405409d41000de8	We compared neuropsychological profiles in children with shunted hydrocephalus secondary to aqueductal stenosis (AS), a rare form of congenital hydrocephalus, and @PHENOTYPICFEATURE$ myelomeningocele (SBM), a common form of @DISEASE$.	false
+2a03b91fbc0525e87849b6e2f363699fa26294e8	We compared neuropsychological profiles in children with shunted hydrocephalus secondary to aqueductal stenosis (AS), a rare form of @DISEASE$, and @PHENOTYPICFEATURE$ myelomeningocele (SBM), a common form of congenital hydrocephalus.	false
+f7f73eed96aebe5f2514101ab4b2d0d4f00392a7	As for anomalies associated with it, the total @PHENOTYPICFEATURE$ and @DISEASE$ were revealed in CT scan.	false
+a8e7a14de6137057156a8705207f0015711cea8c	Moreover, @PHENOTYPICFEATURE$ and @DISEASE$ are identified, which indicate the origin of this disease as have been reported by various authors.	false
+4a956b81a99f206456a1d43e5842c1c3f222f6e2	The @DISEASE$ (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, @PHENOTYPICFEATURE$, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia.	false
+cf95a33edfb379481f91f2bb882e63a147cb69dc	The @DISEASE$ (SGBS1, OMIM #312870) is an X-linked @PHENOTYPICFEATURE$ condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia.	false
+19eee5617446b17136d5400d44c048c536e2ab9c	Two cases of monocular @PHENOTYPICFEATURE$ during oral arsenic trioxide therapy of @DISEASE$.	false
+7d63192fb7355ec2bd4e7482db3b32935c6df7fc	Bisacodyl (4.3 and 43 mg/kg), given alone, did not induce the development of colonic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+37c4560b87f6449c574f539b28511c74c22d9f31	Acro-cardio-facial syndrome (@DISEASE$) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, @PHENOTYPICFEATURE$, mental retardation, and growth retardation.	false
+618dc30a1050f02719c7514d5efd7c89e25ede0e	Acro-cardio-facial syndrome (@DISEASE$) is an infrequently reported, variable condition characterized by split-hand and split-foot malformation and congenital heart defect (CHD), along with cleft lip and palate, @PHENOTYPICFEATURE$, unusual face and intellectual disability.	false
+743c6682f0c9ac9d3f30196c301c6646e32d1a36	to analyze 31 resections of chiasmatic-sellar region (CSR) and anterior cranial fossa (@DISEASE$) @PHENOTYPICFEATURE$ using the supraorbital trans-eyebrow approach (STA).	false
+8c25023797feecdeb9e4fd835a626c9876c8a95c	Compared with the control, soy isoflavones did not affect incidences or multiplicities of colon @DISEASE$ or @PHENOTYPICFEATURE$.	false
+1d54aa58ae4e5e106f2a5d1dacc67a86b6350f4b	The STA is adequate for removal of CSR and @DISEASE$ @PHENOTYPICFEATURE$ under proper selection of patients.	false
+187bf3a10cfc0e49a2957716772f9426f16c1fea	Cascara (140 and 420 mg/kg) did not induce the development of colonic @DISEASE$ and @PHENOTYPICFEATURE$ and did not modify the number of AOM-induced ACF and tumors.	false
+304c6ed8fd80a81551af6229cdc16d888d7d92c1	Cascara (140 and 420 mg/kg) did not induce the development of colonic @DISEASE$ and tumors and did not modify the number of AOM-induced ACF and @PHENOTYPICFEATURE$.	false
+f2999383ff34ab361a465fc0ca4f16a33715fdac	Hesperidin treatments significantly inhibited the number and multiplicities of AOM-induced @DISEASE$ and @PHENOTYPICFEATURE$ incidence.	false
+3f7b89ba36d906bf8a46df3d3e294f1a419d9563	Acro-cardio-facial syndrome (@DISEASE$) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), @PHENOTYPICFEATURE$, and mental retardation.	false
+e742eb7b27945e27b11536bd5f4f48747ef69c90	The development of @DISEASE$ and @PHENOTYPICFEATURE$ in rats treated with AOM were significantly reduced by SE (30 and 60 mg/kg).	false
+1b071d3513680af09f34fe713d9b614df8006cc6	From October 2002 to January 2007, 106 patients with cranial never @PHENOTYPICFEATURE$ dysfunction were treated with @DISEASE$.	false
+8dfab767077c0e39db2afc9fffd0a3a27e0d0907	To assess the results of microvascular decompression (@DISEASE$) in treating cranial nerve @PHENOTYPICFEATURE$ dysfunction.	false
+2a87aad9cbe4b7e4537d0e1284269764b02e770a	On the basis of results of electrophysiological studies in patients undergoing microvascular decompression (@DISEASE$) operations to relieve hemifacial spasm (HFS), we have postulated that the abnormal muscle response characteristically found in patients with HFS is the result of @PHENOTYPICFEATURE$ of the facial nerve by the blood vessel that is compressing the facial nerve near its exit from the brainstem in these patients.	false
+a0252e9e74153210d454d46ddbd129bdf197cfc4	Microvascular decompression (@DISEASE$) surgery for trigeminal neuralgia and hemifacial spasm offers a relatively low-risk opportunity to treat cranial nerve @PHENOTYPICFEATURE$-compression syndromes, which are associated with severe, disabling facial pain and spasm.	false
+12daf1927ddcbda382e472c971df5bcfda9d2b68	The utilization of the endoscope in microvascular decompression (@DISEASE$) for trigeminal neuralgia and other associated cranial nerve @PHENOTYPICFEATURE$ syndromes allows for unparalleled panoramic views and illumination of the neurovascular structures within the CPA and identification of vessel-nerve contact traditionally unseen using the microscope.	false
+aaf0d375ff38ace35bd513ab3397b61bd8d54f28	This combination of clinical manifestations could be given another term, such as @PHENOTYPICFEATURE$-@DISEASE$.	false
+82ff24ff5e0e7570d59973d923790b412638fd0e	deletion syndrome (DiGeorge/ Velo-cardio-@DISEASE$) characterized by facial defects, @PHENOTYPICFEATURE$, cardiovascular anomalies and cleft palates.	false
+59415e50242bb8b2a8ecc78ba14a37528c2b4af0	Three other main entities have now been defined, both at clinical and genetic levels: a dominant disease due to mutations of one of the @PHENOTYPICFEATURE$ necrosis factor receptor, called TRAPS for tumour necrosis factor receptor associated periodic syndrome, the hyper-immuno-globulinaemia D and periodic fever syndrome (HIDS), which is a metabolic disorder and the @DISEASE$.	false
+1a86e57fbd3db0586d76e7c17c3cda8a6c218134	The use of bisphosphonates in non-fragility conditions, such as fibrous dysplasia, avascular necrosis, @DISEASE$ and @PHENOTYPICFEATURE$, is also discussed.	false
+288f6f3c81a41d1fe064e814634870f90e47a029	These patients did not exhibit @PHENOTYPICFEATURE$, attention deficit hyperactivity disorder, delayed cognitive development and/or learning disabilities, cognitive impairment, congenital heart disease, hyperflexibility of joints, large hands and feet, muscular hypotonia or @DISEASE$.	false
+0fad28c5526cc9ecba11e879f48567fe718daa7e	Tibial @DISEASE$ (TD) is a @PHENOTYPICFEATURE$ that can cause economic losses and animal welfare concerns.	false
+a3265f0db7a466c30ba0237104b0c0202d48f7cc	Disruption of this chondrocyte maturational sequence causes many @PHENOTYPICFEATURE$ in poultry such as tibial @DISEASE$ (TD), which is a common cause of deformity and lameness in the broiler chicken.	false
+1ee0f13e7135af73b929ec6b434417c592c0c521	Tibial @DISEASE$ is a @PHENOTYPICFEATURE$ characterized by an avascular plug of cartilage in the metaphysis of the long bones of rapidly growing birds.	false
+0ae11080050b25f7f59a3ecfe06e9e7e4bdf330f	Tibial @DISEASE$ (TD) is one of the most prevalent @PHENOTYPICFEATURE$ in avian species; it causes economic losses and is an animal welfare problem.	false
+206ed1afc82b7a5e0a3f8c16c3314cbff734294f	Tibial @DISEASE$ (TD) is one of the most prevalent @PHENOTYPICFEATURE$ in avian species, causing enormous economic losses and major animal welfare problems.	false
+5808be8f8413d937a7a820b46929944cfa4455e8	MAS significantly reduced body weights, bone ash, serum calcium and phosphorus concentrations, and liver lipids and increased the incidence of @PHENOTYPICFEATURE$ (tibial @DISEASE$ and rickets).	false
+23947783ed68e018a8f1ebd69da12e0696066ce7	Tibial @DISEASE$ (TD) is a prevalent @PHENOTYPICFEATURE$ associated with rapid growth rate in many avian species; it causes enormous economic losses and is an animal welfare problem.	false
+9240e301606e5163be5d1485a783d145e45956fa	Tibial @DISEASE$ (TD) is a prevalent @PHENOTYPICFEATURE$ associated with rapid growth rate in many avian species.	false
+555002a825e959e9aab46a63f5c68bafc80fbcf4	Tibial @DISEASE$ (TD), a prevalent @PHENOTYPICFEATURE$ in avian species, is characterized by the formation of a nonvascularized, nonmineralized plaque in the growth plate.	false
+0a9ae014b0234718c320bee38b79b61d9bbe91db	Tibial @DISEASE$ (TD) is one of the common @PHENOTYPICFEATURE$ in fast-growing birds, and it is characterized by nonvascularized, unmineralized, and nonviable cartilage in the tibial growth plate that fails to form bone.	false
+a5db4d5b1b7d9944b482572ed160962b8c3e1045	Mutations in the complex disrupt many fundamental metabolic pathways and cause multiple human diseases including maple syrup urine disease (@DISEASE$), @PHENOTYPICFEATURE$, and other related neurological disorders.	false
+c33003077475da8a2c8dc692f8e021d4e29346cf	We assessed 17 adult patients with @DISEASE$ (mean age, 27.5 years) with a special focus on @PHENOTYPICFEATURE$.	false
+3390a6187239481a40f29875a0a058a853e73fa5	Majority of the patients with @DISEASE$ had developmental delay/intellectual disability (88%), @PHENOTYPICFEATURE$ (69%), and seizures (65%).	false
+605c06b93e8bdbe64b189603b5c15bed071ec3bd	@DISEASE$, congenital heart defect, and @PHENOTYPICFEATURE$: a further observation.	false
+20883eba5cdaa4d5bb78643d1ef203ae49a3c4e5	We present a mildly retarded boy with @DISEASE$, valvular aortic stenosis, @PHENOTYPICFEATURE$, and small head circumference.	false
+e28cb63f3e2596179933f2af667995c07ec029c3	The clinical, the CT scan and the operative findings of a case of @DISEASE$ with spastic paraplegia, mental retardation, @PHENOTYPICFEATURE$, and cleft lip and cleft palate are discussed.	false
+808059250f3f75376c8fa7a3a1a843eab0de8e37	Despite the prenatal detection of the extensive cutaneous and visceral involvement, the infant died soon after birth of high-output @PHENOTYPICFEATURE$ and @DISEASE$.	false
+47d4efccc4125295a4e6ec27c9789bffb336cdc5	The causes of neonatal mortality in these five cases included consumption coagulopathy (@DISEASE$), @PHENOTYPICFEATURE$, sepsis, and prematurity.	false
+4c5d9bc99541bf2338ab85273bdd5a62cbfbd5d1	Huge, alarming congenital hemangioma of the scalp presenting as @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	false
+cdcab57d0471e9224c60e23c657b9ad80f0cca18	Giant hemangioma of the arm associated with @PHENOTYPICFEATURE$ and the @DISEASE$ in a neonate.	false
+e1c697f939cd57506da59d588651c351c2f80c38	This case showed further complications by the development of @PHENOTYPICFEATURE$ and a @DISEASE$.	false
+664a9e6706b0d06848b54f55038f7920d0a31feb	Lesions may cause life-threatening disease due to av-shunt-related @PHENOTYPICFEATURE$, @DISEASE$ or encroachment on surrounding tissue.	false
+0ab90828b112294f1c65dd8e6179352d4a49f85b	We highlight the occurrence of @PHENOTYPICFEATURE$ and @DISEASE$ (thrombocytopenia, anemia) that have spontaneously regressed.	false
+3487636f57753498651ff43b9a12c00b67c33a78	The most feared complications are @PHENOTYPICFEATURE$ and the @DISEASE$ which may occur in up to 50% of affected children.	false
+1f47c73acb8166fe20ba7fa42664e0a7b37bc90a	A small number of patients with haemangioma need treatment for serious complications such as @DISEASE$, @PHENOTYPICFEATURE$ and obstruction of the airway.	false
+e2eb79a8a844c0fc74ffa85b3ababa5980b2ef6a	[A case of @DISEASE$ combined with @PHENOTYPICFEATURE$].	false
+731d6d4f7981617ab76d425fdf5422fb27145973	Uncommon findings included hemifacial microsomia combined with unilateral @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e640dd4319f0424661c76f03240f29cffb282ca8	We present the case of a male adolescent with a known history of @DISEASE$ who presented with a @PHENOTYPICFEATURE$ ictus and a space-occupying lesion, which posed significant diagnostic challenges to specify its characteristics.	false
+397fd698235e965341652102328b99603c046eb4	All measles-containing vaccines are associated with several types of adverse events, including @PHENOTYPICFEATURE$, fever, and @DISEASE$ purpura (ITP).	false
+4369842200b38d7f2d3a09936e32bdb0f22fdf9a	Predisposing maternal conditions at risk for this occurrence include alloimmune and @DISEASE$, von Willebrand's disease, specific medications (warfarin) or illicit drug (cocaine) abuse, @PHENOTYPICFEATURE$, severe abdominal trauma inflicting subsequent fetal injury, amniocentesis, cholestasis of pregnancy and febrile disease.	false
+ce68f8118a9d8e697c4d1fee3518335eaf50445a	Thrombocytopenia @PHENOTYPICFEATURE$ is compared with other conditions characterized by congenital non-@DISEASE$.	false
+14bc9d691e9333c188b71605287a0eb96d9437e3	A 52-year-old woman with history of refractory @DISEASE$ had hypertension, @PHENOTYPICFEATURE$, and mild coronary artery disease and received rituximab; after 24 hours, she returned back with chest pain, nausea, and vomiting.	false
+9ff5e5de2490d68c9b443ddd72a165f111ff308f	We monitored all vaccine recipients for non-elective hospitalizations, emergency department visits, and selected outcomes captured in the clinic setting (Bell's palsy, seizures, neuritis, Guillain-Barr? syndrome, @PHENOTYPICFEATURE$, encephalitis, epilepsy, transverse myelitis, multiple sclerosis, hypersensitivity reactions, @DISEASE$, diabetes, arthritis, hemolytic anemia, collagen-vascular disease) through 6months after vaccination.	false
+9758bac92db4477598060afb365f68ad7f31e303	We monitored all vaccine recipients for non-elective hospitalizations, emergency department visits, and selected outcomes captured in the clinic setting (Bell's palsy, @PHENOTYPICFEATURE$, neuritis, Guillain-Barr? syndrome, encephalopathy, encephalitis, epilepsy, transverse myelitis, multiple sclerosis, hypersensitivity reactions, @DISEASE$, diabetes, arthritis, hemolytic anemia, collagen-vascular disease) through 6months after vaccination.	false
+cf77e982c8ff8608e9901c07d99b004d8629d026	However, within a few days of the single dose of pembrolizumab, @DISEASE$ followed by pancytopenia, recurrent @PHENOTYPICFEATURE$, visual hallucination, and cerebellar signs consistent with limbic encephalitis developed, which were not responding to steroid and intravenous immunoglobulin.	false
+a906cd76db5c9329b07f90a14a7b9fa80aaeed96	The infusion and the @DISEASE$ procedure were discontinued in one patient who developed angioneurotic @PHENOTYPICFEATURE$ after being administered intravenous heparin and the first bolus dose of eptifibatide.	false
+d4cdb49e6a23046dee85c7edaacb65c77f5290a2	This study found that hypertension phenotypes such as WCHT were closely associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d93fc3f5c67a325eb7b643285a42eb9a49534702	@DISEASE$ patients also had higher preprocedure prevalence of coronary artery disease (CAD), MI, congestive heart failure (CHF), chronic obstructive pulmonary disease (COPD), and @PHENOTYPICFEATURE$.	false
+b6c41fc90b92ce8642d029a823d11fc09e8845d2	This study aimed to investigate whether hypertension phenotypes such as white-coat hypertension (WCHT), diagnosed with the addition of nighttime blood pressure (BP) criteria, are related to coronary artery stenosis (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+6e861b6fb5828947a692adadbe6d093e71783e77	Transluminal percutaneous carotid angioplasty and stenting (@DISEASE$) carries a risk of cerebral ischemia, hemorrhage, or @PHENOTYPICFEATURE$ due to relative hyperemia and hemodynamic instability during and after the procedure.	false
+5a4caa3035d7fd09975924bb7e20ee528ef8caef	Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe @PHENOTYPICFEATURE$, sloping forehead, low set and posteriorly angulated ears, prominent eyes, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in @DISEASE$ 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints.	false
+766cd18c401da568a3a8ded346c57694fb86d45e	Patients without @DISEASE$ were more often scheduled for EGAG before valvular heart surgery and because of @PHENOTYPICFEATURE$.	false
+3dd76a1e789598a21c6d7f30d75a433bcc9c63e9	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, @DISEASE$, episodic ataxia type 2, familial @PHENOTYPICFEATURE$ periodic paralysis, congenital myotonia, malignant hyperthermia, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+3d564fe0b8ced5bd7d36b6a90c153e31e4441259	@DISEASE$, retinal degeneration, @PHENOTYPICFEATURE$, and nystagmus.	false
+d2495d6a6e9317a884f63880bd3169384aa52b4d	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, @DISEASE$, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+2e9b60ca311ac4a361db083629464be2c981c580	Mutations of voltage-gated sodium channel genes SCN1A and SCN2A have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (GEFS +), severe @PHENOTYPICFEATURE$ epilepsy in infancy (SMEI), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), and @DISEASE$ (BFNIS).	false
+5a361112f534df5cb3c7dd342785824e613b0cd5	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (@DISEASE$, syndromic and non-syndromic), autism, @PHENOTYPICFEATURE$ schizophrenia and attention deficit hyperactivity disorder.	false
+4c232e94dbe44ef919e811eb9eadc5b40a2d1a88	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (@DISEASE$, syndromic and non-syndromic), @PHENOTYPICFEATURE$, childhood onset schizophrenia and attention deficit hyperactivity disorder.	false
+65a93acf2db000d1a128e7d23741132c3912fa18	All members with diagnostic codes for @DISEASE$ were identified and the three most frequent diagnoses were unspecified intellectual disability, @PHENOTYPICFEATURE$ or pervasive developmental disorder, and cerebral palsy.	false
+86a04e063aea658fa28790ca2582fdc7353e57b8	Nevertheless, in the 129/Sv strain, occasional development of chimeras to term was obtained, and one chimera that survived postnatally developed @DISEASE$ @PHENOTYPICFEATURE$ to those observed previously in androgenetic ES cell chimeras.	false
+27608a03ecdceaa501f3733404abfb73ae6b3187	Frequency and pattern of documented diagnostic features and the age of @PHENOTYPICFEATURE$ @DISEASE$.	false
+dfd0ae5497e4734458081ebea9da46e44d00c74d	Data on the one family included in this study suggest separate inheritance of the trait for @DISEASE$ and the trait for positive @PHENOTYPICFEATURE$ tests.	false
+df2a4dd3b3b0c355b9dc9b4fdc859f5ea39f70d7	The first evaluation was conducted on 85 patients (60 patients with @DISEASE$ cerebellar ataxia dominant subtype [MSA-C] and 25 patients with MSA @PHENOTYPICFEATURE$-dominant subtype [MSA-P]).	false
+decd7f4ef63bdd92b4070287f5e5cd03ed9503d7	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+b1586373a0e9483063a5d2ae1c4ca1bac14e885c	Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had @DISEASE$ (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during @PHENOTYPICFEATURE$ operation 1, and leukaemia 1).	false
+4c61a6d7d060ef93cc0f8205ad722c674187ed84	He presented with the full features of the disease: tall stature; syndactyly: @PHENOTYPICFEATURE$; massive sclerosis of the long tubular bones, the ribs, the pelvis and the skull; multiple cranial nerve involvement: @DISEASE$, facial palsy and trigeminal neuralgia.	false
+9b47e581e6c5a183dfd99b39482bd21b8e654032	The face takes on a flat appearance, the root of the nose is inset and there are abnormalities of the orbital cavity (hypertelorism, exophthalmos, oculomotor @PHENOTYPICFEATURE$, @DISEASE$).	false
+bf2a90f3e91e9489bd55a75952ddd83d0c672597	Hearing, @PHENOTYPICFEATURE$, and @DISEASE$ were more common in dyskinetic CP.	false
+011c4a121620f4e99ac31b3476a3661da6beb888	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), @DISEASE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+ef655556ab56cd702e8713c0c151b1fbe56c3c78	The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, @PHENOTYPICFEATURE$, @DISEASE$ and demyelinating peripheral neuropathy.	false
+ab55c3c9831cceb313ae8a43d5e88e0912f3d8fa	[A case of neurogenic scapuloperoneal @PHENOTYPICFEATURE$ with @DISEASE$ and neural deafness].	false
+ccc109b140f077cc578f136611ba77d45a8c29b1	Bilateral disc @PHENOTYPICFEATURE$ and unilateral macular hole in a patient with @DISEASE$.	false
+35183f2071ca1ec775018509be8d80a7e7f99d30	Disc @PHENOTYPICFEATURE$ in juvenile @DISEASE$.	false
+312757f9829e437719e519f89984b7cdb589a1d5	All patients had @PHENOTYPICFEATURE$ features, moderate to severe hypotonia, hepatomegaly, and @DISEASE$.	false
+6c9ac750e9095268d07f3813cca09819570cefb0	It is usually revealed during early childhood by steatorrhea and @PHENOTYPICFEATURE$; ataxia and @DISEASE$ appear later.	false
+10834203656f4f3e0c7bae1968e3b4a2b57ba7d3	Epiphyseal dysplasia, @PHENOTYPICFEATURE$, nystagmus, and @DISEASE$.	false
+4e07d0fcbccaa54bd99dafa10fcbdd14d1c9c6ab	Sutural cataract, @DISEASE$, @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+3c3a9ad655528dd5837f0b152fc8c369d016ea3c	Ectodermal dysplasia, @PHENOTYPICFEATURE$ and @DISEASE$--a new syndrome.	false
+d91fd35933d797ab906fa2135a70576d5d3a5093	Bilateral disc @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a67f8656e804adebfd3be864b414724801aa45e2	Hereditary @PHENOTYPICFEATURE$ with ataxia, @DISEASE$, and diabetes mellitus.	false
+39c81ab8f4751d632b50403e2d220018e7e5e67c	@PHENOTYPICFEATURE$ and @DISEASE$-like disorders.	false
+82570263c8104cd0005244d5cb92f0f135393fa1	Multivariable analysis distinguished four independent predictors for @DISEASE$: indeterminate lesions on preoperative CT, tumor size?>?30?mm, @PHENOTYPICFEATURE$, and preoperative CA 19-9?>?192?U/mL.	false
+0e5645c1798ef8af1244f63770443413f6252d9e	@DISEASE$ (HIBM) is an autosomal recessive adult onset @PHENOTYPICFEATURE$.	false
+e9c73f1d8be3b499c4afb56bfad1b93f4877869b	Distal myopathy with rimmed vacuoles (DMRV)-@DISEASE$ (hIBM) is an adult-onset, moderately progressive autosomal recessive @PHENOTYPICFEATURE$; eventually, affected individuals become wheelchair bound1.	false
+72e32fd5e3f6d8d845b47df92dff3a5f14dfb814	@DISEASE$ (DMRV)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive @PHENOTYPICFEATURE$; eventually, affected individuals become wheelchair bound1.	false
+fcc5945d6ea3ad7064f9f71155f8d20287210494	@DISEASE$ (IBM) is a sporadic progressive @PHENOTYPICFEATURE$, which is morphologically characterized by inflammatory cell infiltrates and rimmed vacuoles in muscle fibers.	false
+3e45bae050f7c64827c3b2846a9654e94a229fff	@DISEASE$ is an extremely rare autosomal recessive disorder characterized clinically by @PHENOTYPICFEATURE$, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis.	false
+2f561716ca0453caf19ea93c9eb43ddaa7d7d72c	@DISEASE$ is an extremely rare autosomal recessive disorder of keratinization characterized clinically by @PHENOTYPICFEATURE$, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis.	false
+5db4ae0452a443f31d14cd92dc4e91cd9a35b076	@DISEASE$ (HMS) is a rare autosomal recessive disorder characterized clinically by abnormal @PHENOTYPICFEATURE$ and destruction of the periodontium, with hallmarks of onychogryphosis and arachnodactyly.	false
+16774a5b6cda4d16d055dac8968dbe4be6c868e2	The syndrome resembles Papillon-Lef?vre syndrome (PLS), characterized by @PHENOTYPICFEATURE$, periodontitis and psoriasis-like skin lesions, and particularly @DISEASE$, an allelic variant of PLS with acro-osteolysis.	false
+2f561716ca0453caf19ea93c9eb43ddaa7d7d72c	@DISEASE$ is an extremely rare autosomal recessive disorder of keratinization characterized clinically by @PHENOTYPICFEATURE$, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis.	false
+18fb1fa111c73e8eaad2e0f0ddaba1e7372c0c05	Diagnoses included aphakic glaucoma, congenital glaucoma, juvenile chronic arthritis, aniridia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+613cc9d43cfa021fda317cdd2260d36531d1b29b	Saul-Wilson syndrome (@DISEASE$) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative @PHENOTYPICFEATURE$, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and brachydactyly.	false
+31b5d94c53d9ca48698746ebe0831057a1c9ad25	The @PHENOTYPICFEATURE$ hemangioma was the clue for the diagnosis of @DISEASE$ and cryocoagulation was the procedure of choice for the treatment of retinal detachment with favorable visual outcome.	false
+f92e368dada1a1a65c06d518b6b1fbb634d26d13	Patients with @DISEASE$ or DM had an increased prevalence of @PHENOTYPICFEATURE$ compared to HCs.	false
+01c6d769ec255a40141cd5388ddc07fbe5bf5488	These included 46 patients with diffuse systemic sclerosis, 2 with @DISEASE$, 2 with linear @PHENOTYPICFEATURE$, 18 with overlap syndrome (OS), and one with primary Raynaud's disease.	false
+00bec1dd6c9b4e5a30a96186d9dbecb3b519b1af	@PHENOTYPICFEATURE$ renal crisis in a patient with anticentromere antibody-positive @DISEASE$.	false
+288993c83a5c1387dc181bc22cf20bdda13d6b81	Anti-RNA polymerase III antibody-associated @PHENOTYPICFEATURE$ renal crisis in a patient with @DISEASE$: A case report.	false
+dc280daf49fa7899605b4eb8474bed2da2d836d0	Another unusual finding was that the mild skin involvement (@DISEASE$, subcutaneous calcinosis) was combined with serious internal organ involvement, including honeycombing and finally @PHENOTYPICFEATURE$ renal crisis.	false
+cf6cbe734d39558cb249fce619ba43770bca0f6d	Mesenchymal chondrosarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ accounting for less than 1% of all chondrosarcomas.	false
+dbef4052856bb5141e77c8a0c1f2e978e4ecf28c	In addition, immunization with @DISEASE$/pGRP nanoparticles could suppress the growth of @PHENOTYPICFEATURE$ cells.	false
+4bcd22a47c30972762b7d8caebf53ac7599922ca	Mesenchymal chondrosarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ in the orbit.	false
+c0c89107b2020172d97bb4a107a88e294d3b2b7e	Mesenchymal chondrosarcoma (@DISEASE$) is an unusual @PHENOTYPICFEATURE$ mainly found in the skeleton.	false
+0accc3fdeff227d1880673e93f742507318ada20	Miles-Carpenter syndrome (@DISEASE$) was described in 1991 as an XLID syndrome with fingertip arches and @PHENOTYPICFEATURE$ and mapped to proximal Xq.	false
+70186eba73b37aa9585ca8f09ce322391298fccb	Systemic combination chemotherapy led to marked transient @PHENOTYPICFEATURE$ regression in this proliferating @DISEASE$ in an unusual intracranial location.	false
+034bc7c63692c7fa25d573e11703149470a6c76d	Key to this is the ability to form multicellular spheroids (MCS); however, the @PHENOTYPICFEATURE$-specific factors that regulate @DISEASE$ formation are unclear.	false
+7845df47d8ada7f722080eaeae2c41ac3db77b60	Key to this is the ability to form multicellular spheroids (@DISEASE$); however, the @PHENOTYPICFEATURE$-specific factors that regulate MCS formation are unclear.	false
+6996acba5736c5f488ecbbfdd0f6581d7e176faa	Mast cell sarcoma (@DISEASE$) is a rare form of mastocytosis characterized by the presence of solid @PHENOTYPICFEATURE$(s) comprising malignant mast cells that harbor destructive infiltration capability and metastatic potential.	false
+767d9a306072b8dddc9f93729d2a1110a5959254	@DISEASE$ (MCS) is a rare form of mastocytosis characterized by the presence of solid @PHENOTYPICFEATURE$(s) comprising malignant mast cells that harbor destructive infiltration capability and metastatic potential.	false
+f148a795e62be7b5b5207dbce4ec9045208f17ab	Mast cell diseases comprise a spectrum of disorders including cutaneous mastocytosis, indolent or aggressive systemic variants including leukemia, and unifocal @PHENOTYPICFEATURE$ formations such as benign extracutaneous mastocytoma or aggressive mast cell sarcoma (@DISEASE$).	false
+e5a34c9d6612ad6b737729f88fee06bbfd79e200	Mast cell diseases comprise a spectrum of disorders including cutaneous mastocytosis, indolent or aggressive systemic variants including leukemia, and unifocal @PHENOTYPICFEATURE$ formations such as benign extracutaneous mastocytoma or aggressive @DISEASE$ (MCS).	false
+09b71f6d8e1bb3ad33fca413d7e7e129dbb0f996	Mucinous carcinoma of skin (@DISEASE$) is an uncommon adnexal @PHENOTYPICFEATURE$ of disputed differentiation.	false
+a1df5857350acba9443ecb4b9de8c4e1cc8e3baa	@DISEASE$ (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and @PHENOTYPICFEATURE$.	false
+be559049c518bcadc6a7471a748a2064d283cea2	We now report identification by sequencing, restriction endonuclease analyses, and clonal analyses of a heteroplasmic missense A to G base pair substitution at nucleotide position 3796 (A3796G) in the gene encoding the ND1 subunit of mitochondrial complex I in a patient with adult-onset dystonia, @PHENOTYPICFEATURE$, and @DISEASE$-type myopathy.	false
+d99e92f834ad102635adecde3cdc08c3869e112b	A kindred with dominantly inherited @PHENOTYPICFEATURE$ demonstrated @DISEASE$ as a phenotypic feature of the disease.	false
+99383a28135116ec2a2e3a5464c03e0f6c56e31f	Other causes included Behcet's disease, sytemic lupus @PHENOTYPICFEATURE$, drugs, pregnancy, chronic myeloid leukemia, leprosy, @DISEASE$ and inflammatory bowel disease.	false
+3d87845c30bd3bf3c6bb432f013f9f1efc06c1d3	A 22-year-old female presented with fusion of the cervical vertebrae, torticollis, scoliosis, pterygium colli, the @DISEASE$ with an omovertebral bone, concavity of the thorax and @PHENOTYPICFEATURE$ of the right ear.	false
+e74c74aadf5b580715701653354d9d0e9f0ecc1a	A 66-year-old man who was status-post bone marrow transplantation for @DISEASE$ was hospitalized with new onset rash, @PHENOTYPICFEATURE$ and subsequently expired.	false
+646acc3588a421db05ef3002fe584d243a45bce4	To report two rare cases of @DISEASE$ (CML) on tyrosine kinase inhibitors presenting as bilateral serous retinal detachment and @PHENOTYPICFEATURE$, simulating Vogt-Koyanagi-Harada (VKH) disease.	false
+864c51c2f893705bde29189e9c2cef40b9592e68	We report a 34 year old man who developed @PHENOTYPICFEATURE$ and predominantly respiratory, truncal and bulbar weakness, and a high titer of anti acetylcholine receptor antibodies along with a diagnosis of Philadelphia chromosome positive @DISEASE$ (CML).	false
+1afec9179e33995d5b7e8aa29c55ea9e164fe60b	The combination of thymosin and methylprednisolone for the treatment of a patient with colonic ulcers, @PHENOTYPICFEATURE$, and pleural effusion after dasatinib treatment for @DISEASE$.	false
+66325dccdda44867d6b468835a777f62c6c87a14	In patients with myelodysplastic syndrome or acute or @DISEASE$ presenting with diarrhea, @PHENOTYPICFEATURE$, and/or fever, colonoscopy and biopsy are indicated to determine if the colon is affected by granulocytic sarcoma.	false
+8b35aabf3dac08c7ef2705d301bc546383d1a62a	In CP-@DISEASE$ patients, the most common treatment-emergent adverse events were rash (47%), @PHENOTYPICFEATURE$ (46%), thrombocytopenia (46%), headache (43%), dry skin (42%), and constipation (41%).	false
+67731437a2460aabbcfb64f06a075a4b40293c0e	A 61-yr-old man with @DISEASE$ treated continuously for 8 yr with busulfan presented with fever, @PHENOTYPICFEATURE$, and elevated liver enzymes in a cholestatic pattern.	false
+79695c6e710dc420f9612672ba66f28f112a5926	A 46-year-old woman diagnosed with @DISEASE$ presented with @PHENOTYPICFEATURE$.	false
+919313e6cd0dac02d2fd140f0104ee2e0f0934a6	A 38-year-old woman with megakaryoblastic @DISEASE$ (CML) crisis developed recurrent episodes of severe hypercalcemia, manifested by @PHENOTYPICFEATURE$ and later by dyspnea and hypoxia.	false
+33afa01c12c7a47b018d0a77b258eaa0d8988ce5	A 50-year-old woman, who had previously been diagnosed as @DISEASE$ (CML), but had a complete hematologic response, presented with lower @PHENOTYPICFEATURE$ and a large pelvic mass involving the right uterine adnexa region and extending to the right posterior wall of the bladder and right distal ureter.	false
+d71ee3d8b95c47c7b5768fc20ff0f1de1ee2a8bd	Using drugs to modulate inflammation and gene transfer to rescue GALC expression and activity, we show that lipid accumulation resulting from @DISEASE$ acts as a cell-autonomous pathogenic stimulus in enzyme-deficient NSCs and progeny before upregulation of inflammatory markers, which later sustain a non-cell-@PHENOTYPICFEATURE$.	false
+fba4cbc893875428de54bf6102dfdb3012d9551c	Factors that affect postnatal bone @PHENOTYPICFEATURE$ in the twitcher murine model of @DISEASE$.	false
+afb95b6e27843499f8e8b2810e2d4ece2fafd121	Reticulate pigmentary dermatosis associated with hypohydrosis and @PHENOTYPICFEATURE$: a variant of @DISEASE$?	false
+018a88397b1867a6c34a3d15764d3946a965ec02	Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of @PHENOTYPICFEATURE$ @DISEASE$ worldwide, but important differences exist between various populations.	false
+f06baf503155c9d5e0b63a2792370617ad1275bb	Mutations of the gap junction beta-2 protein (GJB2) gene located in the @DISEASE$ and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of @PHENOTYPICFEATURE$ nonsyndromic hearing loss worldwide, but important differences exist between various populations.	false
+d0130f377f9d4397356b512fbadbbe825dfe9e4e	Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with @PHENOTYPICFEATURE$ @DISEASE$.	false
+8783106ed05cc30d08ec6d18fdfe71f970a82f44	Although some skeletal malformations have been associated with @DISEASE$, @PHENOTYPICFEATURE$, to our knowledge, has not.	false
+daa4ef0690a59721757fdbbfc901889842db9727	The condition is characterized by @DISEASE$, severe microcephaly, sensorineural deafness, moderate learning @PHENOTYPICFEATURE$, and distinctive facial dysmorphic features.	false
+834ff4bc9d2fbf41743358c79abfed461b86c10c	Isolated @DISEASE$ with @PHENOTYPICFEATURE$.	false
+8fd7b2b765c84c0d65f9f769ae42deb63dface24	Comprehensive clinical evaluation in this patient revealed @PHENOTYPICFEATURE$; cranial nerve palsies; motor, reflex, and gait disturbances; and sexual infantilism secondary to @DISEASE$.	false
+c65c5323ff980291f161d7f426cebac3c44b02d8	Kallmann syndrome (KS) is a rare genetic disorder characterised by @DISEASE$ with a lack of sense of smell and in some cases renal aplasia, deafness, @PHENOTYPICFEATURE$, cleft lip/palate, and dental agenesis.	false
+a02ef7fb53e182b6ed2f55c163c7589e72107de8	A 43-year-old man, with no family history of either condition, was identified as having isolated @DISEASE$ with @PHENOTYPICFEATURE$ of the feet.	false
+1508a7710ca954a2a0a1a551b06d0f7d2df94525	PME should be considered in cases of severe @DISEASE$ neurological @PHENOTYPICFEATURE$ and poor effect of antiepileptic treatment, and biopsies from skin, mucosa or muscle should be performed.	false
+bc5986a5208f3a814984e51cb7db480ab57b43c3	Six patients undergoing dynamic contrast enhanced abdominal computed tomography (CT) for @DISEASE$ @PHENOTYPICFEATURE$ and signs are described.	false
+70d89eee15c1b96ffc7c12df8fcb7ed7bb723298	This newborn had anal atresia, patent ductus arteriosus, tracheoesophageal fistula, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+740c6cd94142599e69b909e895c59eb5979e8103	Unexplained diarrheal illnesses associated with @DISEASE$ @PHENOTYPICFEATURE$ and eosinophilia should raise suspicion of the presence of strongyloidiasis.	false
+90906baf087c1c49a22a647d1abb608cff1a4946	Both had mild @DISEASE$ @PHENOTYPICFEATURE$ and were successfully resected with a distal pancreatectomy.	false
+544fdb334aab547de154e399dad6ea4d401f3955	Before therapy none of the patients complained of @DISEASE$ @PHENOTYPICFEATURE$, and all had normal gastric emptying.	false
+3b75cf2e8f49154219a27f73d4a3146a1a7bdf90	A female patient 48-year-old, presented with @DISEASE$ @PHENOTYPICFEATURE$.	false
+1c4f44ee3f5b85aca0aa1927a17a14f0800d0c7c	Recognition of this simple sign may direct the clinician to a cardiac aetiology for @DISEASE$ @PHENOTYPICFEATURE$ and signs.	false
+a4fdd41231c9338eb1ddb7d0dec01b1c5c896683	It is associated with various ipsilateral @DISEASE$ extremity anomalies and homolateral @PHENOTYPICFEATURE$.	false
+e104361898dcd38ee8547885d7934d3aa7d8a613	The value of the two examinations for assessment of patients with @DISEASE$ @PHENOTYPICFEATURE$ and pancreatic disease is discussed.	false
+2e8532ade672ef3b3c550bcb9682eafbcae6a7d4	Bilateral @DISEASE$ and lower @PHENOTYPICFEATURE$ were present with multiple fractures in the long bones and ribs.	false
+36e4ab56e379de4c350e73b9a5b0f1cf77b269c7	These amplifiable polymorphisms provided predictions of heterozygosity for @DISEASE$ and should be useful for diagnostic linkage analyses in Alport syndrome, X-linked @PHENOTYPICFEATURE$ and ankyloglossia, Pelizaeus-Merzbacher disease, and X-linked agammaglobulinemia as well as sequence-tagged sites for gene mapping.	false
+eb22663b2525bae694d8f0e44a0e4218d4d62695	A diagnosis of angiokeratoma of the scrotum (Fordyce) was made and potential precipitants such as intra-abdominal masses, urinary tract @PHENOTYPICFEATURE$, varicoceles, hernias and @DISEASE$ (Fabry syndrome) were excluded.	false
+0234182838e2053ba8e11942dc93c493a983db2f	Mucopolysaccharidosis (MPS) causes aortic and valvular disease, Pompe disease causes cardiac @PHENOTYPICFEATURE$, and @DISEASE$ causes left ventricular hypertrophy.	false
+2cd77542d1fa28d54f67191ef6d5bd298a0d0db4	We report a 56-year-old woman with rheumatoid arthritis treated with chloroquine, who developed @PHENOTYPICFEATURE$ and renal insufficiency; information regarding therapy was not emphasized at the time of renal biopsy, leading to initial erroneous interpretation of @DISEASE$.	false
+229feaf9b985c4a5fbb891b972835d7d23d2bd4f	Ninety percent of MAS patients have @DISEASE$ lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, @PHENOTYPICFEATURE$, and compromised oral health.	false
+818f26fd1e77530afd54f26f7e589515f5abb596	In addition to the osseous tissue within the inner ear, findings included @PHENOTYPICFEATURE$, otosclerosis, otitis media, trauma, and @DISEASE$.	false
+bfca225921d47c56decba9ffebe3d542e52b8052	@DISEASE$ deposition mimicking a cardiac @PHENOTYPICFEATURE$ and precipitating heart block.	false
+0aadb54fa54422305e39197153b9f31895b479fa	Rhabdoid @PHENOTYPICFEATURE$ predisposition syndrome (@DISEASE$) is a rare syndrome caused by inheritance of a mutated INI1 gene for which only two multigeneration families have been reported.	false
+a58b9ee854911cdf77132b2c6cb67d060af27ab8	In addition, familial occurrence of these @PHENOTYPICFEATURE$ (the @DISEASE$) is discussed.	false
+1b3d9c0ec4e1460ab45b3cd0d43b02553e078f12	This is followed by a brief summary of the newly described cancer predisposition syndromes including @DISEASE$, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and Familial Pleuropulmonaryblastoma @PHENOTYPICFEATURE$ Predisposition (DICER1) Syndrome.	false
+f51dce153f1d62cb72ed1785e56889af63fa8e9f	The @DISEASE$ (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 @PHENOTYPICFEATURE$ suppressor gene.	false
+c49cc7c172dee8536d2a316afe6abe4942c7d75b	In addition, this gene may be responsible for a new hereditary syndrome predisposing to a variety of @PHENOTYPICFEATURE$ designated "@DISEASE$."	false
+367133907076280b41bcc33c6eb9ef51804a27b5	Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes: @DISEASE$, with malignant pediatric tumors mostly developing in brain and kidney, and familial schwannomatosis, with adulthood benign @PHENOTYPICFEATURE$ involving cranial and peripheral nerves.	false
+532cc686092f972cc59f1d9a172dcd443d247877	This condition, which we propose to term "@DISEASE$," may account for previous observations of familial and multifocal cases of the aforementioned @PHENOTYPICFEATURE$ types.	false
+ece2a6b6ace30326f768691b624ccd998929764c	Children presenting with @DISEASE$ tend to develop @PHENOTYPICFEATURE$ at a younger age, but the impact that germline mutation has on survival remains unclear.	false
+25f52f73bc762792a14c864899a2a61d2928c977	In the present study, we provide a review of the @PHENOTYPICFEATURE$ that are associated with neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis complex, von Hippel-Lindau disease, Li-Fraumeni syndrome, Cowden disease, Turcot syndrome, nevoid basal cell carcinoma syndrome (Gorlin syndrome) and @DISEASE$, which are the most common.	false
+fa1e6de102e6e9d5a7753364acad5f5cab44824d	@PHENOTYPICFEATURE$ of the optic nerve and the loss of retinal ganglion cells is a hallmark of glaucoma, the leading cause of irreversible blindness worldwide, with @DISEASE$ (POAG) being the most frequent form of glaucoma in the Western world.	false
+d18431556291a85ef226bb81f49497f13d425de8	@DISEASE$ in the context of an hereditary @PHENOTYPICFEATURE$].	false
+0490feaa26d921034e4221a6d45566b808caa0c7	Deletion of 18q211 was observed in a @PHENOTYPICFEATURE$ young man with electrophysiologically demonstrated @DISEASE$, present since childhood.	false
+7def95f6f591276fea19579c2c790d26572003a2	To report a late-onset @DISEASE$ that revealed a familial neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation.	false
+c103762540c3fac988a6011af0f910876129c9a4	Isolated late-onset @DISEASE$ revealing a familial neurogenic muscle weakness, @PHENOTYPICFEATURE$, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.	false
+9b063da2f44e065491d06812a2aaef7ce9462735	Four human donor eyes with the following forms of central retinal dystrophy: @DISEASE$ (CRD), central areolar choroidal dystrophy, Bardet-Biedl syndrome, and cone dystrophy-@PHENOTYPICFEATURE$.	false
+dcdbbdcf058ed07755a5068f13e07315a551231b	SCA-7 is a polyglutamine expansion disorder and the only spinocerebellar @PHENOTYPICFEATURE$ that shows a @DISEASE$ phenotype, which probably results from interference with the action of specific cone-rod genes.	false
+09c9e9cc890dc79ecd42d93d8ec2ed185649988c	The major features of this syndrome are @DISEASE$, polydactyly, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, @PHENOTYPICFEATURE$, and poor coordination/clumsiness.	false
+1d7d5de6945f7a0abe4d26e43e11abd26a258442	@PHENOTYPICFEATURE$ and @DISEASE$ associated with elevated luteinizing hormone levels and multiple congenital anomalies.	false
+695204cf0d896b79ca503cf1bba7de8996aca38d	This condition is characterized by retinal dystrophy, obesity, @PHENOTYPICFEATURE$, renal disease, and @DISEASE$.	false
+8d8b5fe63e074658645da0250959b36718da04ee	A case of growth hormone and @DISEASE$ associated with unilateral @PHENOTYPICFEATURE$, microphallus, cryptorchidism, and mental retardation.	false
+3fa6685fae51b3ee8f874b693b8738ddaa54d80b	Familial ataxia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+81a7dd1bef088ed662754f0127d7894d94f69cf2	Kallmann's syndrome (KS) refers to the association of hypogonadic @DISEASE$ and @PHENOTYPICFEATURE$ or hyposmia.	false
+a96d0d0d3a4801d81f1f4619a5cac1c333aac5bf	Kallmann's syndrome (KS) refers to the association of @DISEASE$ hypogonadism and @PHENOTYPICFEATURE$ or hyposmia.	false
+732a5e7b966cd9f1b0ed8b089d7b1c137bb2d7fc	Clinical manifestation accompany with @PHENOTYPICFEATURE$, obesity, myocardial involvement, polydactyly, and @DISEASE$.	false
+0b96c27041977db3e247bae4c5728b0ddde828dd	Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with @PHENOTYPICFEATURE$, obesity, postaxial polydactyly, learning disabilities, @DISEASE$ and renal dysfunction.	false
+e7d3f676733695dae248e5831e9cff16140d9c26	Both presented with bilateral @PHENOTYPICFEATURE$ and absent pituitary or @DISEASE$.	false
+238b4ee3f740d84f510df523717d5ca3d095d154	In 1983, Johnson et al. described 16 related individuals with alopecia, @PHENOTYPICFEATURE$ or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic @DISEASE$ inherited in an autosomal dominant pattern.	false
+cba9344265e2b1ebe42deb9024cbf6dd21cd383b	In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, @PHENOTYPICFEATURE$, microtia and/or atresia of the external auditory canal, and hypogonadotrophic @DISEASE$ inherited in an autosomal dominant pattern.	false
+72265bb9caff18a4489e9af4f442b2ab2656fe8d	This disease, also named olfactogenital dysplasia, affects the normal gonadal and olfactory development and is clinically characterized by the association of hypogonadotrophic @DISEASE$ and @PHENOTYPICFEATURE$/hyposmia.	false
+c6dd1553487ce6f9deb37e53259b70518e111124	@DISEASE$ (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, @PHENOTYPICFEATURE$ and, ultrastructurally, by axons in the central and peripheral nervous systems distended by masses of tightly woven neurofilaments.	false
+0f51735e86716af2c07c32b2c5aaa3deaa583842	Eighty-eight percent of cases of other incurable  neurological disorders such as @PHENOTYPICFEATURE$, Retts Syndrome, @DISEASE$, etc., also showed improvement.	false
+80611bd5252b69b56e801520fa6b65e5fddb2ac1	@DISEASE$ (GAN) is an autosomal recessive inherited progressive motor and @PHENOTYPICFEATURE$ with typical onset in early childhood.	false
+874f7c7d0da837e37db0091021b530e509c2fbe4	Defects or dysfunction of the UPS may also underlie cognitive disorders such as Angelman syndrome, Rett syndrome and @PHENOTYPICFEATURE$, and muscle and nerve diseases, e.g., inclusion body myopathy and @DISEASE$.	false
+69a00bfee71ed11a7ae773c4d5fa034ac24c6884	We report three cases of @DISEASE$, all of which had @PHENOTYPICFEATURE$.	false
+0570627f2f30e5dbec77f53ca383f278ae25d2eb	Phenotypic abnormalities were noted in two infants with CPM and three infants of non-CPM group: One with CPM22 had ASD and hypospadias, one with CPM7/13 had @DISEASE$ (RSS), and one without CPM had @PHENOTYPICFEATURE$, and two without CPM had RSS.	false
+4bd1709d8f97c4787153ed4bdd3edf9cc30ecea2	To evaluate the feasibility and treatment outcomes of stereotactic radiosurgery (@DISEASE$) using a stereotactic body frame (Precision Therapy), we prospectively reviewed 34 tumors of the 28 patients with primary or metastatic intrathoracic @PHENOTYPICFEATURE$.	false
+1bdf208d4750bcd5e78c38a73d60dcdde311f9ad	associated with mild @PHENOTYPICFEATURE$ without features of @DISEASE$.	false
+64e8fcaf3ec818f9c8e3b85e562479c1c9f11fd4	RFA and @DISEASE$ have been demonstrated to be safe with reasonable efficacy in the treatment of small @PHENOTYPICFEATURE$.	false
+9f85af174da175fd6b526f1613b14a2e497dca49	We report a unique case of HME diagnosed in a woman who presented with @PHENOTYPICFEATURE$ and acute appendicitis during early pregnancy and whose condition progressively deteriorated to @DISEASE$.	false
+f05ba3414e1f654e57c577de9825debaa11cc0f5	In toxic doses it produces @PHENOTYPICFEATURE$, and bone marrow suppression often leading to sepsis, hypocalcemia, @DISEASE$, and direct cardiotoxic effects.	false
+2552d8e12be6d187430b3a755247a684d8a32356	In-vitro fertilization was successful but she developed @PHENOTYPICFEATURE$, ascites, lower limb edema, dyspnea, bilateral pleural effusion, and @DISEASE$.	false
+73f8fcfd00c24316a2a690cc6cf478c8efb1200a	In toxic doses it produces @PHENOTYPICFEATURE$ and bone marrow suppression, often leading to sepsis, hypocalcemia, @DISEASE$, and direct cardiotoxic effects.	false
+e16ced11c4e14b3b802bb857f36279de7847a598	@PHENOTYPICFEATURE$ as a complication of @DISEASE$.	false
+d768f36b3aa328f42b9bcb313a528854d921129b	Weak-to-moderate correlations were found between @PHENOTYPICFEATURE$ and other @DISEASE$ (range: 0.14-0.37).	false
+3732e938287f7153fa56b10a5935dcd585832416	A range of @DISEASE$, most notably impaired sense of smell, @PHENOTYPICFEATURE$, and dysautonomia are present from the 'pre-motor' phase to the final palliative stage.	false
+75a13ed0ef8772f51942e7a896f2fbc3f174d0f9	There was only a small correlation between severity of early-morning motor symptoms and overall burden of NMS and nocturnal @PHENOTYPICFEATURE$ in RECOVER, suggesting that motor symptoms and @DISEASE$ originate, at least partly, from distinct pathophysiological pathways.	false
+2d7f6e15117d2c656871db2b7a91c9ed500722e9	There was only a small correlation between severity of early-morning motor symptoms and overall burden of @DISEASE$ and nocturnal @PHENOTYPICFEATURE$ in RECOVER, suggesting that motor symptoms and NMS originate, at least partly, from distinct pathophysiological pathways.	false
+61e852cea6b9e397093de045364285e6fa82a33f	@PHENOTYPICFEATURE$ as a component of the @DISEASE$.	false
+1de0ada566bcd9718da4e1ce35b744e3e74007a3	In PD, RBD is associated with more @DISEASE$, particularly increased depressive symptoms, @PHENOTYPICFEATURE$, and fatigue.	false
+96ecece666098796a5e105355ff401f0e2a1584d	Although Parkinson's disease (PD) has been classically defined as a motor disorder, a range of non-motor symptoms (@DISEASE$) including cognitive, mood, autonomic and @PHENOTYPICFEATURE$ occur with the passage of time.	false
+56ee47b7a4e926d8be6adec741a87f1ad5a5fa05	Nonmotor symptoms (@DISEASE$) like neuropsychiatric symptoms, @PHENOTYPICFEATURE$ or autonomic symptoms are a common feature of Parkinson's disease (PD).	false
+d06763b6e2f64f1f34e74db1909f62c2cce4e306	Parkinson's disease (PD) is a relentlessly progressive neurodegenerative disorder associated with hallmark motor and nonmotor symptoms (@DISEASE$) such as @PHENOTYPICFEATURE$ and cognitive dysfunction.	false
+b84003bc130e3627ea1ecc3ed7fb34e4104de6cd	Nonmotor symptoms (@DISEASE$) of idiopathic Parkinson's disease (IPD), specifically fatigue, depression and @PHENOTYPICFEATURE$, are important contributors for worse quality of life and poor patient outcomes.	false
+9ed31dd4e4acc7046d7ac2dd60b3f21c632ea1f7	Furthermore, 4-wk erythromycin administration reduced both motilin plasma levels (from 223.4 +/- 53.8 to 145.4 +/- 67.2 pmol/L, p < 0.01) and symptoms of nausea, @PHENOTYPICFEATURE$, and abdominal pain (p < 0.01), and increased bowel movements in a subset of @DISEASE$ patients with intestinal pseudo-obstruction.	false
+04050021616e68ecacaeea103b9c5f2c0c2b4588	Patients with @DISEASE$, primary biliary cirrhosis (PBC), @PHENOTYPICFEATURE$, and mixed connective tissue disease were studied.	false
+2335e46840d87d10edaea6476522c4788c3cbf31	@DISEASE$ patients had higher prevalence of upper gastrointestinal tract symptoms than controls (heartburn, @PHENOTYPICFEATURE$, dysphagia and epigastric pain) that were not associated with BMI (p= 0.36) but diminished quality of life (p=0.02).	false
+509a91d24da966df94612ebe9afde8e6c0b5bf86	@DISEASE$ @PHENOTYPICFEATURE$ was absent in all 5 cases.	false
+502a8bc2a7edace56ddf35adec23c1ff4bc1a9d3	Nicolaides-Baraitser syndrome (@DISEASE$) is characterized by sparse hair, distinctive facial morphology, distal-@PHENOTYPICFEATURE$ and intellectual disability.	false
+e8bfe0f865bd80f42d012e10d3301c5c107d7b56	Nijmegen breakage syndrome (@DISEASE$) with @PHENOTYPICFEATURE$ and without chromosomal instability.	false
+61cbc68cde08a7e973b584c611c060a5293468b3	@DISEASE$ (NBS) with @PHENOTYPICFEATURE$ and without chromosomal instability.	false
+99572dba2e7836c922208b3c6faf677e8cd731aa	The symptoms of @DISEASE$ including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, short stature, mental retardation, chromosome instability, @PHENOTYPICFEATURE$ were present in our case.	false
+cee035cd45bbd4768be1d61c407c8af70761dcd7	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and @PHENOTYPICFEATURE$.	false
+0c841705f327a7aeeb539fca02404fbd4f595759	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant inherited disorder characterized by malformations of the ear associated with hearing impairment, branchial fistulae or cysts, and @PHENOTYPICFEATURE$.	false
+f6b26aef7827624ba9e266cc30156d29a275593e	They may be a part of branchiootorenal (@DISEASE$) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and @PHENOTYPICFEATURE$.	false
+1c2950cdb24d78bbafa30915691e612a8cc422ba	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant disorder characterized by branchial @PHENOTYPICFEATURE$ loss, and renal anomalies.	false
+39f7e4bd7b7d7bb7fbc1e64e5c003851f962da0d	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and @PHENOTYPICFEATURE$.	false
+c32640a0d92e6984ca7492de0bcc4c11a7c17828	We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and @PHENOTYPICFEATURE$ comprising the branchio-oto-renal (@DISEASE$) syndrome.	false
+655c847c0d228ac289a61cf916a6ee02dfae7975	Seven patients had @DISEASE$ syndrome (two familial and five sporadic), and eight had deafness and @PHENOTYPICFEATURE$ without branchial fistula (BOR-related conditions).	false
+0b9ce1815f750e552a1d8c00584da0b4eea4f76c	Branchio-oto-renal dysplasia, often called the @DISEASE$ syndrome, in its full expression consists of hearing loss of conductive, sensorineural, or mixed type; preauricular pits; auricular deformities; lateral cervical sinuses, cysts, or fistulas; and @PHENOTYPICFEATURE$.	false
+72524330519565ea83752ba76375abea0180d2eb	deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (@DISEASE$) syndrome, Duane syndrome, @PHENOTYPICFEATURE$ and trapeze aplasia.	false
+67b429b548c6be9ea27702e04da0c99c7c5ca01c	deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, @DISEASE$ syndrome and this dominant form of @PHENOTYPICFEATURE$.	false
+52fdf6d3d167db5bb16af915683dd7bb04cca17e	@DISEASE$ in microphthalmia associated with internal @PHENOTYPICFEATURE$.	false
+fd536660be7540d0e3dd884577c6677ed61d6715	After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, @PHENOTYPICFEATURE$, seizures, an abnormal electroencephalogram, @DISEASE$, glaucoma and widely spaced toes.	false
+cb4b7b69c439a8ada094f4a9e40537978d7863a2	Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/@DISEASE$ such as intellectual disability, vertebral and @PHENOTYPICFEATURE$, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation.	false
+3a5a1ba868a9b78277b2ab96bbeac8ed139a7a69	Since all patients with BRESEK/@DISEASE$ are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/BRESHECK syndrome such as intellectual disability, vertebral and @PHENOTYPICFEATURE$, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation.	false
+6d38d7f077e7bf884b6f567a7e156f4bda3c27b5	BRESEK/@DISEASE$ is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and @PHENOTYPICFEATURE$ or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.	false
+70a877365e66adc187e96050b3220d061cd5d096	Report of a case with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d2c181f66a0c5cdcba12046c57765b7c96559cae	Children diagnosed with asthma, type 1 diabetes, juvenile @PHENOTYPICFEATURE$, @DISEASE$, or Crohn's disease were identified from the National Patient Registry.	false
+f89e4f5da77883e8bc132243a35b232ee040f674	Multifocal microcarcinoid @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4ee4db15545778147205c5caceff2685637418a9	One trial of each in Crohn's disease, @DISEASE$, @PHENOTYPICFEATURE$, and rheumatoid arthritis are shown in other group.	false
+8e1958fa81104599286f96faf56d5e36a582741a	@DISEASE$-associated @PHENOTYPICFEATURE$.	false
+7c9e1a13665914177e9d51f1fcb930cce3e19015	Life-threatening hepatic failure, acute exacerbation of @DISEASE$, disseminated intravascular coagulation, and @PHENOTYPICFEATURE$ were reported.	false
+0d386fff8077637620ff85bc4598b0abe29f16ce	An unusual case of @DISEASE$ with thrombocytopenia and oligoarticular @PHENOTYPICFEATURE$ at onset, 4 and 2 years before the assessment of IBD, is reported.	false
+bc5bdd67cf76174b2bd7decc45479ebe3d2ed38a	The most prevalent extra-intestinal manifestations were perianal disease (18%) in Crohn's disease, and arthralgia or @PHENOTYPICFEATURE$ (6.8%) in @DISEASE$.	false
+f3b5c038fef3290e96ce0ea668bc415e71a9f8ac	Here, we describe a patient with Klinefelter syndrome, @DISEASE$ and Sj?gren syndrome, who developed transient hyperCKemia, myalgia and mild @PHENOTYPICFEATURE$.	false
+0fbd5b0ab8cdadfcbed0064e8a4d10761811c205	The onset of @DISEASE$ is characterized by diarrhea and bleeding, while granulomatous ileocolitis may be similar or more obscure with abdominal pain, bowel obstruction, loss of weight, iritis, @PHENOTYPICFEATURE$ or hypoalbuminemia.	false
+ed50085de818e8c5996542d60dc40e6207dd9a9e	However, based on her atypical clinical course and additional imaging studies, a diagnosis of @PHENOTYPICFEATURE$, rather than @DISEASE$, was made.	false
+a52e31c577772368764826b17dcb4292bf2f2cc3	@DISEASE$ and @PHENOTYPICFEATURE$ in 4 family members across 2 generations with KCNQ1 mutation.	false
+8bb511ec67b13478c4033780dd86c5ffd5bc2aaf	The association of @DISEASE$ and @PHENOTYPICFEATURE$ is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1.	false
+ad1aae3e48d5be2ff4a1fe4a2d522ef64b063742	From the electrocardiogram and echocardiography, a @PHENOTYPICFEATURE$ (LVNC) with @DISEASE$ (LQT) was suspected as the cause of the cardiopulmonary arrest, and treatment with a ?-blocker and a calcium antagonist was then begun.	false
+ccead5bc4d53bcaf3dacd84a36b47199979a9323	From the electrocardiogram and echocardiography, a @PHENOTYPICFEATURE$ (LVNC) with long QT syndrome (@DISEASE$) was suspected as the cause of the cardiopulmonary arrest, and treatment with a ?-blocker and a calcium antagonist was then begun.	false
+0c6b478a9cccd4ab22bb6cb71a1ef7730632f8aa	Loss-of-function abnormalities in cardiac Kir2.1 currents can lead to the @DISEASE$ and alterations of cardiac excitability, and patients with some forms of long QT syndrome suffer from over-secretion of insulin, hyperinsulinemia and symptomatic @PHENOTYPICFEATURE$.	false
+114842cbf0777151b87a3806fb9c050ea5405944	Loss-of-function abnormalities in cardiac Kir2.1 currents can lead to the long QT syndrome and alterations of cardiac excitability, and patients with some forms of @DISEASE$ suffer from over-secretion of insulin, hyperinsulinemia and symptomatic @PHENOTYPICFEATURE$.	false
+594c783850d7e1e0987f8aa4e52ea90c8d901fc8	@PHENOTYPICFEATURE$, starvation, nervous system injury, and drug administration cause the much more frequent acquired @DISEASE$ (LQTS).	false
+2607efba99d5001918d73d4b6dd8049fec7203a2	The patient's clinical scenario was produced by the convergence of 3 events: a de novo @PHENOTYPICFEATURE$ occurred in hERG, the mutation was dominant negative, and the action of the mutation resulted in neonatal @DISEASE$.	false
+32e091a814768fd40893addb87edc1fd67c45aa8	Six participants had pathogenic variants associated with dilated cardiomyopathy (n=1), hypertrophic cardiomyopathy (n=2), @PHENOTYPICFEATURE$ (n=1), or @DISEASE$ (n=2).	false
+45a1b990b775924d5dda462f3a3851306706ca47	A @PHENOTYPICFEATURE$ in a patient with @DISEASE$ caused by a KCNQ1 mutation: a case report.	false
+40fe17cb22f13615af75397d10adf04146c98e35	Subjects underwent exercise testing, 24-hour ambulatory ECG, signal-averaged ECG, cardiac magnetic resonance imaging, and a blood-based analysis of a comprehensive 311-gene panel for cardiomyopathies and ion channel disorders associated with TWI, including hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$, and Brugada syndrome.	false
+a73db2b45dd386f877d32e861bb6814c74bc3d65	Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial @PHENOTYPICFEATURE$, two with congenital @DISEASE$, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5? reductase deficiency).	false
+3ddc9180f9c6ed32d07d2757aa1e0e9b08ded215	Preoperative @PHENOTYPICFEATURE$, intraoperative anemia, and RBC transfusion on the day of surgery are interrelated risk factors for @DISEASE$ after cardiac surgery.	false
+8ebbdeda0c35d554b5fa9a1b7a4f2d69f8aaabf6	We hypothesized that the prevalence of AKI would be highest 96?h following TAC, early @PHENOTYPICFEATURE$ would predict AKI, and that @DISEASE$ would be an independent predictor of mortality.	false
+e1b1d20fffd51c3ab091b07d29e7e56f5a267a01	We hypothesized that the prevalence of @DISEASE$ would be highest 96?h following TAC, early @PHENOTYPICFEATURE$ would predict AKI, and that AKI would be an independent predictor of mortality.	false
+4e74875676072473c5c1593024382b5eea7448a3	The malformations included @PHENOTYPICFEATURE$, hydrocephaly, aortic arch anomalies, ventricular septal defect, and anophthalmia, being similar to the effects of a medium dose of @DISEASE$.	false
+6fc722d43d805a7156967713e944233e81dcb177	These @PHENOTYPICFEATURE$ were not associated with von Recklinghausen's neurofibromatosis or @DISEASE$.	false
+eca9997902ff1801b9dd15d66107c6a950b74c57	@DISEASE$ is a disease characterized by the development of multiple benign @PHENOTYPICFEATURE$ originating from Schwann cells.	false
+2c57961518ac27639280a976ebdde0e6a2f60e93	Whether meningiomas are part of the @DISEASE$ @PHENOTYPICFEATURE$ phenotype or not remains debated.	false
+89c56f702685fd5ff6e67687462f61ccbd1a24eb	@DISEASE$ is a rare affection predisposing to multiple peripheral neurologic @PHENOTYPICFEATURE$ development.	false
+544a3614b6221d8979050243307fb507adac80c8	@DISEASE$ @PHENOTYPICFEATURE$ are difficult to grow in culture as they survive only a few passages before senescence.	false
+2063b92f2a7579e05c8222f9e1614e93497ef5be	@DISEASE$ is a @PHENOTYPICFEATURE$ predisposition syndrome characterized by development of multiple intracranial, spinal, and peripheral schwannomas.	false
+1894506cd6bea7278322b2333b3d24d18b2c013d	Besides these, other @PHENOTYPICFEATURE$ may occur in @DISEASE$ patients.	false
+8dad4a0bb34d1536b0c89f9b346180d941a6cb31	@DISEASE$ is a tumor suppressor syndrome that causes multiple @PHENOTYPICFEATURE$ along peripheral nerves.	false
+da2f3064369260be21249dee73bdac7af0df40c2	@DISEASE$ is a @PHENOTYPICFEATURE$ suppressor syndrome that causes multiple tumors along peripheral nerves.	false
+b86ddcdb892966b2293e5cf9678513d4ab7df3cf	Thirteen definite cases and sixteen probable cases of @DISEASE$ with cutaneous @PHENOTYPICFEATURE$ were collected from the Japanese literature.	false
+548764fded934704047419ccc7964c7f50beb26e	Here we expand these observations to a large group of sporadic and NF2-related @PHENOTYPICFEATURE$ and extend them to @DISEASE$-derived tumors.	false
+79b5ea6359dacd129ac6ced1022f0211026d3fcd	Here we expand these observations to a large group of sporadic and NF2-related tumors and extend them to @DISEASE$-derived @PHENOTYPICFEATURE$.	false
+86b2cf9ed1167387c4c6260b97520ab31fd224c6	Unilateral straight hair in @DISEASE$ due to stellate ganglion @PHENOTYPICFEATURE$.	false
+0270da8d26f87c3b01666f5320ac64a2febb1110	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+7d60b774064ad382e6ef25f47284086b2d3160da	We report on a case of a 22-year old primigravida with @DISEASE$ in association with @PHENOTYPICFEATURE$ and cerebral sinus thrombosis.	false
+0f4c71f76b9e445e75915c3a7de8739bee32f05c	Comorbidities included thrombocytopenia (25%), pulmonary infection (25%), anemia (19%), @PHENOTYPICFEATURE$ (17%), acute renal failure (8%), @DISEASE$ (6%), DIC (6%).	false
+b3790b3d1998e90b4a81fd5022509c17cbfbe330	L?we syndrome is a form of @DISEASE$, @PHENOTYPICFEATURE$, renal tubular dysfunction and hypotonia.	false
+5038bf6ada910b1fa40caa4b6a45188e3a91202d	@DISEASE$ is a rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex @PHENOTYPICFEATURE$ and diaphragmatic abnormalities.	false
+a5ef92a612e8df3ff6616be714713f6b9e167fe9	@DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$ caused by mutations in the synthesis of the protein filamin B (FLNB).	false
+8f8d3748c91733cd4407db5f684b8da28b0188e3	Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of @PHENOTYPICFEATURE$ phenotypes that includes achondrogenesis type 1B (ACG1B), @DISEASE$ (AO2), diastrophic dysplasia (DTD), and recessive multiple epiphyseal dysplasia (rMED).	false
+a55002ead13a37ffd6e533862179153a8c92a0cf	We report a male infant with @DISEASE$ (atelosteogenesis type II), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+1f2cfec5f29eb71afe8bd0980943ef10dff9c67d	We report a male infant with de la Chapelle dysplasia (@DISEASE$), a @PHENOTYPICFEATURE$ characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia.	false
+fbe34d513bfde7dc108aa672d10faf4242f6a0ed	@DISEASE$: a distinct @PHENOTYPICFEATURE$ with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.	false
+481917005aac5fba415ab125e63ad547637618de	The clinical and radiologic phenotype of @DISEASE$ overlaps with that of another @PHENOTYPICFEATURE$, autosomal dominant Larsen syndrome; these most likely represent allelic conditions.	false
+ad9a9d148239541aa9c9c5b35a645d609e983db2	All eight patients had characteristic face, hypertrophic frenulum, conical and peg-shaped teeth, hypodontia of deciduous and/or permanent teeth and also @DISEASE$, small chest, short stature and @PHENOTYPICFEATURE$.	false
+e1fb772e1a182fdafa2eff249da877712b36bc0b	This disease exhibits a broad spectrum of clinical signs including @DISEASE$, @PHENOTYPICFEATURE$, cognitive deficits and hearing impairment.	false
+ebf40b5a0eb94819f2e22233fe706d375ffd5de1	A 33-year-old woman known for infantile cataracts, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and @DISEASE$ was referred to us for multiple failed corneal grafts and severe eye dryness.	false
+6a317de5dbbdf8fba921dd6583134897860689f9	A 33-year-old woman known for infantile @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and @DISEASE$ was referred to us for multiple failed corneal grafts and severe eye dryness.	false
+4cf5e9209dd36e453cf89c65597a95559191cfed	We compare the features in our family to those previously reported in MDMHB, review the natural history of this condition and highlight the importance of considering an underlying @DISEASE$ in patients presenting with significant dental problems and other suggestive features, including disproportionate short stature and/or @PHENOTYPICFEATURE$.	false
+031995d4e39dbb6fc8cf518645be754e378974f4	The campomelic syndrome is a @DISEASE$ of unknown aetiology which is apparent at birth and is characterized by bilateral bowing of the tibiae, @PHENOTYPICFEATURE$ and other multiple congenital abnormalities.	false
+35be0747711038ade9be8ad10e393c58e791209b	On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by @DISEASE$, rapidly progressive nephropathy, episodes of @PHENOTYPICFEATURE$, and pigmentary skin changes.	false
+17ae344fa1da4397ef3e551ab7cdfb1b37f82241	Associated features may include arthrogryposis, @DISEASE$, vocal cord paresis, @PHENOTYPICFEATURE$ and respiratory weakness.	false
+2d36b27de743636d4dcd8cb2b403c63adda77910	is a mitochondrial disease gene causing @DISEASE$, @PHENOTYPICFEATURE$, and white matter changes.	false
+72fd994c68f1219196e3be25a8ccffd8e48f12b8	These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and @DISEASE$, as well as @PHENOTYPICFEATURE$ with no additional anomalies.	false
+7593034d6a0cd85fb7ddd18ae0d0bffae15a8d2b	These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, @PHENOTYPICFEATURE$, and @DISEASE$, as well as cataract with no additional anomalies.	false
+59bf0c39c1ebc27497f304073eb71a6f880b4861	These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by @PHENOTYPICFEATURE$, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and @DISEASE$, as well as cataract with no additional anomalies.	false
+913a5d45a34fe7ac582ca0c1f5ace16f15346dc5	Humans with severely reduced plasmalogen levels have reduced life spans, abnormal neurological development, @DISEASE$, impaired respiration, and @PHENOTYPICFEATURE$.	false
+7a263f76038e7dbd44f52c3a91e10c0f4b207b86	In six patients with terminal @PHENOTYPICFEATURE$ the effectiveness was assessed of intermittent peritoneal dialyses (@DISEASE$) using the dialysing fluid of modernised composition.	false
+6c20d3e4e6462dbea2cb47245ece892dc13a9fcc	Although not statistically significant, this @PHENOTYPICFEATURE$ may be associated with administration of @DISEASE$.	false
+a75f99530a77b744dcf6db8f11e30d40a1c8204e	Evaluation of the outcome of preoperative intermittent pneumatic soft tissue distraction (@DISEASE$) in patients with severe @PHENOTYPICFEATURE$ in Dupuytren's disease with special regards on recurrent deformities.	false
+0914058b582a89df34e54ef46b71f100e5652558	The aim of our study was to assess the technique of immunophotodetection (@DISEASE$) in intraoperative situations in an experimental model and to determine its capacity to detect very small @PHENOTYPICFEATURE$ masses.	false
+0f4173bf974b9a4b011870140e877bce43a8835f	Individual patient data (@DISEASE$) was extracted from 14 studies, representing 322 @PHENOTYPICFEATURE$.	false
+af77306e21acb008f09aae708bf0294a7622d5ef	Records of in-theater improvised peritoneal dialysis (@DISEASE$) in level III hospitals or forward surgical units in Iraq or Afghanistan were reviewed to determine the following: cause of @PHENOTYPICFEATURE$ and associated injuries; type of dialysate, peritoneal access, and exchange technique; and patient outcome.	false
+1c10e4e72bd90512b39994bd7c88c16fbe2b9b36	The study group consisted of 40 patients in the terminal stage of @PHENOTYPICFEATURE$ treated with intermittent peritoneal dialysis (@DISEASE$).	false
+3b36aff8509e598089dc083c8a6236aff3b7ec58	This individual patient data (@DISEASE$) meta-analysis examines MRI's agreement with pathology in measuring the longest @PHENOTYPICFEATURE$ diameter and compares MRI with alternative tests.	false
+7bc20403056adf2a67797fcdd3d2dc0ae599c325	Univariate analysis of @DISEASE$ revealed that VHL patients were younger, and had smaller @PHENOTYPICFEATURE$ compared to those with sporadic disease.	false
+e255033d86b5120afe216f28ccc0643c233d9481	Two groups of twenty patients with @PHENOTYPICFEATURE$ matched for age and clinical diagnosis were managed with @DISEASE$ and HD and the effectiveness, costs and complications of both modalities compared.	false
+b10a1d654740e0a3bffe291264a49ece4c52c792	A total of 11 patients, none of whom had received prophylactic radiation therapy, developed @DISEASE$ (determined by @PHENOTYPICFEATURE$, elevated serum ACTH levels, and enlargement of a previous pituitary tumor or development of a new tumor in patients with no previous pituitary abnormality) over a mean follow-up period of 53 months.	false
+351e14bb9472a1d528f196ee2409d0c24bff23b5	The manifestations that comprise the disease known as @DISEASE$ are pituitary hyperplasia and @PHENOTYPICFEATURE$, which sometimes follow bilateral adrenalectomy, in patients with hypercortisolism.	false
+8cbdd89f6809d78cc0a41630a0578b6193d85668	@DISEASE$ is a rare and challenging neuroendocrine disorder, and it is associated with elevated adrenocorticotrophic hormone (ACTH) level, @PHENOTYPICFEATURE$, and pituitary adenoma growth.	false
+2e10c9ffe65438cfcc231f222a5ef1b8f655daba	Eucortisolism is achieved at a low rate, @PHENOTYPICFEATURE$ and @DISEASE$ are not prevented.	false
+19f2a433d28a17567601f45d829c5a9c1f6d2912	Fifteen months after pituitary irradiation, he developed @DISEASE$, having @PHENOTYPICFEATURE$, high plasma ACTH levels (376 ng/l) and a pituitary microadenoma (5 mm) documented at magnetic resonance imaging (MRI) of the pituitary region.	false
+94f55a8d58165d8cbc084c37a0da35637da694c5	In contrast, @DISEASE$ @PHENOTYPICFEATURE$ that were not encapsulated had extrathyroidal spread in 67% and had distant metastases in 87% of patients.	false
+b0fc1183d487d9222d3c06c1ee615e8f5f1ce97a	Role of left ventricular @PHENOTYPICFEATURE$ and Purkinje-like potentials during mapping and ablation of ventricular fibrillation in @DISEASE$.	false
+90c05166a4ad0cba97929113eadbbcc313786dc3	The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, @PHENOTYPICFEATURE$ patches, frontal bossing, hearing loss, hypertrophic @DISEASE$, polydactyly, and mild developmental delay.	false
+e696a1869d25845995a1eae8f0837992d83cf103	Alcoholic cirrhosis was diagnosed in 20 cases, skeletal myopathy in 117, @DISEASE$ in 20 and @PHENOTYPICFEATURE$ in 41 cases.	false
+5f6150df78d236a69d3ace4b5f6a22805c344d3a	[Case of Leber's hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+7237340364820b570853718073b844be5baf4c80	Other signs of systemic involvement were also present such as @PHENOTYPICFEATURE$, hematuria with erythrocytic casts and proteinuria, pericardial effusion, and a @DISEASE$.	false
+a0eaf6f2c94513f6a956dd3895f8581f6095559f	Patient was on hemodialysis due to the stage 5 chronic kidney failure and had various comorbid conditions: arterial hypertension, history of acute myocardial infarction, @DISEASE$, amaurosis and @PHENOTYPICFEATURE$.	false
+023f45b52a9fb95126c01aa72c27ea29431af10a	We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with cerebellar ataxia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+184d1ea9c72b9853b697ddd70bf6a5e1008b88aa	We describe a 58-year-old Hispanic man with a diagnosis of idiopathic @DISEASE$ who presented with symptoms of severe congestive heart failure, glossitis, and @PHENOTYPICFEATURE$.	false
+6796f9e13a8f77bfdaf9a969e649b01c2e2cccc7	Alcoholic cirrhosis was diagnosed in 20 cases, skeletal myopathy in 117, @DISEASE$ in 20 and @PHENOTYPICFEATURE$ in 41.	false
+b1f8d90fd869405bb8a91cc6fa9a6b72cfd4fb23	Murine @DISEASE$ is a heritable disease caused by a spontaneous @PHENOTYPICFEATURE$, gus(mps), closely linked to the beta-glucuronidase structural gene on chromosome 5. Mice homozygous for the mutation have a > 200-fold decrease in beta-glucuronidase mRNA levels and virtually no enzyme activity detectable by a sensitive fluorometric assay.	false
+7134352a9188c110ac45b3ba4c9f9e7f20c8afd1	@DISEASE$ is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple @PHENOTYPICFEATURE$, myotonia-like muscle disorders and unusual facies.	false
+dc456a1fa0ae7c9a5ea6cfa90ff74dab6adf4851	Schwartz-Jampel syndrome (@DISEASE$) is a rare entity characterized by myotonia and @PHENOTYPICFEATURE$.	false
+c74eb4d71220aedd798cbbcb6eabc2e5e26dbb02	@DISEASE$ (SJS) is a rare entity characterized by myotonia and @PHENOTYPICFEATURE$.	false
+971049b4dafc1835507ad8864d1d069c4b5a5656	Electrophysiological studies in a mouse model of @DISEASE$ demonstrate muscle fiber @PHENOTYPICFEATURE$ of peripheral nerve origin.	false
+2e3cb32de625f6472511d0ee60f99f1d85172656	Clinical manifestations of @DISEASE$ are characteristic facies, @PHENOTYPICFEATURE$, generous myotonia and short stature.	false
+0eb544e3185947e1c4a66bbc275c144483518503	@DISEASE$ (SJS) is a disorder characterized by myotonia, joint contractures, @PHENOTYPICFEATURE$, facial dysmorphism and growth retardation.	false
+32b5cd2f6f02d790f2c6b5ad3c6abd725884feaf	Schwartz-Jampel syndrome (@DISEASE$) is a disorder characterized by myotonia, joint contractures, @PHENOTYPICFEATURE$, facial dysmorphism and growth retardation.	false
+9230c3ef6cb1aaeafba360fd4e3d61569004d6c8	Schwartz-Jampel syndrome (@DISEASE$, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, @PHENOTYPICFEATURE$ and facial dysmorphism.	false
+ac546a167aa56ea906034665a1f3414be268f7d0	@DISEASE$ (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, @PHENOTYPICFEATURE$ and facial dysmorphism.	false
+e11e905479c4a8df997f254a1e995919903bc712	@DISEASE$ is a rare autosomal recessive disorder with joint contractures, generalized myotonia, @PHENOTYPICFEATURE$, and facial dysmorphism.	false
+b709254fb4002ff5b0905d56cf70150e52dc6773	@DISEASE$ is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, @PHENOTYPICFEATURE$ and facial dysmorphism.	false
+a0c34e76594f9a23731688859b9702d9a89c4857	Schwartz-Jampel syndrome (@DISEASE$) is a rare syndrome that is clinically characterized by myotonia and @PHENOTYPICFEATURE$.	false
+f9a2812019b59d63adfb862e12f3e671f0e09b44	@DISEASE$ (SJS) is a rare syndrome that is clinically characterized by myotonia and @PHENOTYPICFEATURE$.	false
+9824f039f49ebcf692340d9aca13d951482dec21	The whistling face syndrome (@DISEASE$) is a rare disorder characterized by typical face and @PHENOTYPICFEATURE$.	false
+f19d61e15876f3f3ccdf5ab584bbe2b7a5f7af6e	The @DISEASE$ (Freeman-Sheldon Syndrome) is a rare disorder characterized by typical face and @PHENOTYPICFEATURE$.	false
+8fcf85d30ccebbcd2eee3d3eaa54c42324a15c7c	Severe @DISEASE$ causes marked hyperammonemia with @PHENOTYPICFEATURE$ in infancy and usually results in death within the first few months of life.	false
+c574e906502ab77f26b23373a98c57879a92c011	Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive @DISEASE$ characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, @PHENOTYPICFEATURE$ and learning difficulties.	false
+7760a5393a81d2c059d09f8c92ca218e1218735d	Our results link dysregulated expression of Hox group genes with ciliary Wnt signalling defects in the developing cerebellum, providing new mechanistic insights into @DISEASE$ @PHENOTYPICFEATURE$ phenotypes.	false
+20d1b313267011a2248931c6ab04fc490b726eb8	remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and @PHENOTYPICFEATURE$), expanding the phenotype consistent with the continuum of syndromic @DISEASE$.	false
+ae058e0274c75ccf2d909513e1e14bd70dbf9584	Juvenile @PHENOTYPICFEATURE$ is commonly caused by the @DISEASE$ nephronophthisis (NPHP).	false
+b9a2a1f7d62abb20c5e5aa65fe98fcb56ca5e976	Juvenile @DISEASE$ syndromes that are associated with renal cysts and premature @PHENOTYPICFEATURE$ are commonly the result of mutations in the gene encoding centrosomal protein CEP290.	false
+d2254da8b1fc20327fa2853c033b5c95be3bf43e	The @DISEASE$ Joubert syndrome is marked by @PHENOTYPICFEATURE$, a phenotype for which the pathogenic mechanism is unclear.	false
+de3f43667f949e2afbb01e8bd48237297c9edadb	Von Hippel-Lindau (VHL) disease is an atypical @DISEASE$ and inherited tumor syndrome, caused by a mutation in the VHL @PHENOTYPICFEATURE$ suppressor gene encoding the VHL protein (pVHL).	false
+cfbdd277eb9f6e088407ef8468117aac984fc9a0	Disputed but nevertheless enigmatic is the notion that at least a subset of @PHENOTYPICFEATURE$ phenotypes fit within the @DISEASE$ disease spectrum and that cilia loss may be required for tumor progression.	false
+765786ae1f87c8bd9bddffeebd257c93a8d5198a	Disputed but nevertheless enigmatic is the notion that at least a subset of tumor phenotypes fit within the @DISEASE$ disease spectrum and that cilia loss may be required for @PHENOTYPICFEATURE$ progression.	false
+1e389f0f9e13003bd0987addc68d5a0bf3aa1c67	The aim of this study was to search for @PHENOTYPICFEATURE$ in the PSP-P subset of a sample of PSP patients and to compare these findings with those of (i) RS patients, (ii) patients with idiopathic Parkinson's disease (@DISEASE$), and (iii) a control group.	false
+ad3714c40f77f126bc4409ad11ce0f2c9cf10a31	Peripheral neuropathic @PHENOTYPICFEATURE$ is prevalent in @DISEASE$ and has a significant impact on QoL.	false
+11e29937e40330733393a05548c5b6baa54351dd	Extracutaneous manifestations include: fever, weight loss, arthritis or @PHENOTYPICFEATURE$, @DISEASE$ and hematological abnormalities.	false
+f6877115d56fd763c4e7b2b614f1e3c71ac12792	MRI of the thighs revealed worsening @PHENOTYPICFEATURE$ with features suggestive of @DISEASE$ and possible muscle infarction.	false
+2754139c0d7c25162e0218c895f1a93727d28eae	Such deregulation may suggest @PHENOTYPICFEATURE$ and molecular mechanisms similar to those involved in @DISEASE$ observed in human patients.	false
+e0d1a1245e0b67a8645b867b0ac9644a4b2de798	Furthermore, MR can clearly detect @PHENOTYPICFEATURE$, hematoma, and @DISEASE$ of muscles.	false
+23a058809986a3acb0cf1f2c6181c6ca8699ef49	He displayed @PHENOTYPICFEATURE$ in the affected limbs, which might have resulted from local @DISEASE$ or a disorder similar to neuralgic amyotrophy.	false
+31c99649234a9bee61ce949dede59ec5691ae70b	[Fulminant clinical course of a severe symmetrical scleroderma with acrosclerosis, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+2bf8d84f4664c18850d753336f4d90bb94b6305b	Furthermore, reduced models highlighted SLE patients exhibiting prevalence of @PHENOTYPICFEATURE$ and renal disease while MCTD cases show dominance of @DISEASE$ and muscle weakness.	false
+ff2748e8eb00e4cd0619b244d6c04efc42a8a5ea	Sarcocystis fayeri is the only Sarcocystis sp reported in equine muscle in the United States and is rarely associated with acute @DISEASE$ or @PHENOTYPICFEATURE$.	false
+ee0efa3e8e9c34cec9225713bccd292f6d6341dd	The symptoms of RR and compartment syndrome have resolved 1 year postonset, although magnetic resonance imaging continues to show @DISEASE$ and soft-tissue @PHENOTYPICFEATURE$.	false
+08c0d54dbfd3e587e458f67d69b35919bb97191b	These changes included the following: degenerative lesions (75.2%), @PHENOTYPICFEATURE$ (37.9%), chronic myopathic changes (25.5%), parasitic infestation (9.2%), and @DISEASE$ (1.9%).	false
+b2d38d517a147bb23eda10ea56be8322606bd455	In patients with myalgia, @DISEASE$, skin @PHENOTYPICFEATURE$ and vascular diseases WFAg concentrations were higher than in patients without them.	false
+2e4ac47864eb4840d9b29da03bc6a88bf1e37622	Several factors were associated with lower-than-average risk, including the presence of ILD, @PHENOTYPICFEATURE$/arthralgia, @DISEASE$, or anti-Jo-1 antibody.	false
+077aea27f4154d626ed545ef0c0f983ecad24d0d	The second group includes disorders of primarily immunocomplex genesis (vasculitis): skin @PHENOTYPICFEATURE$, @DISEASE$, nodular periiarteritis, mixed cryoglobulinemia, etc.).	false
+164ba6b64cf8cdb944e4090c971f86b9d78ad1ea	Although most of the patients with antibodies to Sm, RNP, or both had systemic lupus erythematosus, some had other diagnoses, including cutaneous lupus, drug-induced lupus, rheumatoid arthritis, juvenile @PHENOTYPICFEATURE$, mixed connective tissue disease, @DISEASE$, progressive systemic sclerosis, miscellaneous rheumatic and nonrheumatic diseases, and undifferentiated connective tissue disease syndromes.	false
+132440acced84fd5fc10cbc6453684c2103bc607	It is only symptomatic in less than one-third of cases (as purpura, @DISEASE$, neuropathy or @PHENOTYPICFEATURE$), and could be the origin of benign lymphoproliferative haematological pathology, then of a malignant one (non-Hodgkin lymphoma).	false
+1ed0066c20fa84b27a612c92e33fb5fa0ba2b2e0	The excitement about Tmem16 proteins has been enhanced by the finding that Ano1 has been linked to cancer, mutations in Ano5 are linked to several forms of muscular dystrophy (LGMDL2 and MMD-3), mutations in Ano10 are linked to autosomal recessive spinocerebellar @PHENOTYPICFEATURE$, and mutations in Ano6 are linked to @DISEASE$, a rare bleeding disorder.	false
+d38b6f3434e2d9f6f748ce2722521e9467641825	The role of rehabilitation is reviewed in the following diseases: post-surgical lung volume reduction for emphysema, asthma, bronchiectasis, interstitial lung disease, @DISEASE$, lung cancer, neuromuscular disease, intensive care, obstructive sleep apnea, pulmonary @PHENOTYPICFEATURE$, post-tuberculous sequelae, lung transplantation.	false
+245eaa6ae5640a1c178a6c1179ce69df2521353e	These results are aimed at better design of multiplexed reactions on arrays used in genotyping (e.g., HLA typing, SNP, or CNV detection, etc.) and mutation analysis (e.g., @DISEASE$, cancer, @PHENOTYPICFEATURE$, etc.).	false
+c7710f63104c4f35e7e4d0f29bbf302b41ffb014	This indicates that the use of FQs should be limited to selected respiratory infections (including tuberculosis), exacerbation of lung disease in @DISEASE$, @PHENOTYPICFEATURE$, enteric infections, febrile neutropenia, as well as serious infections attributable to FQ-susceptible pathogen(s) in children with life-threatening allergies to alternative agents.	false
+d39ebec6c568dc467149888fd61bfe6f8cfe355f	The most common medical conditions affecting children with measured VAD in this cohort include @PHENOTYPICFEATURE$, coeliac disease and @DISEASE$.	false
+bc188cdd1df64143f933a0d7c80f3772bf947b7d	Three types of transplantation can be proposed: single lung transplant for fibrosis and dry emphysema; bilateral lung transplant for @DISEASE$, and certain types of emphysema and pulmonary @PHENOTYPICFEATURE$; heart-lung transplant for pulmonary hypertension and Eisenmenger syndrome.	false
+aac02845474b2e0c385d9f284970c4307709e0f6	Hence this work may lay the groundwork for future development of a highly portable iNO system for treatment of patients with pulmonary @PHENOTYPICFEATURE$, hypoxemia, and @DISEASE$.	false
+beb2faa2be2bf5d3172e786a5e5df4bcdab91f1f	In this report we describe a neonate born with @DISEASE$ (CF) who presented to us with hypoxic respiratory failure, pulmonary @PHENOTYPICFEATURE$, and hypercarbia without lactic acedemia from sticky mucous plugging and massive lung collapse.	false
+ae2df36139ce21ef9d3b18c50df489fbf8736f1a	We conducted an international, cross-sectional survey of @DISEASE$ (CF) and @PHENOTYPICFEATURE$ genetics researchers using a quasi-experimental design to explore factors influencing researchers' judgments.	false
+3a14eb311b425505a949bc78c4b90cb4e9f1829a	An 8-year-old boy with @DISEASE$ (CF), mental retardation, and @PHENOTYPICFEATURE$ exhibited noncompliance with respiratory treatments that were essential for the management of his CF.	false
+042ff092a2d90c259a50a30df2673d9d3796535d	Thus, ENO may be of particular benefit to patients with pulmonary @PHENOTYPICFEATURE$, hypoxemia, and/or right heart failure, and may offer a new therapeutic approach in disorders such as asthma and @DISEASE$, where the airways may be depleted of SNOs.	false
+c35143b34d2646896edc4b5765941a80b8f1363c	We describe 10 patients with cerebral venous thrombosis: two had protein S deficiency, one had @DISEASE$, one was in early pregnancy, and there was a single case of each of the following: dural arteriovenous malformation, intracerebral arteriovenous malformation, bilateral glomus tumours, @PHENOTYPICFEATURE$, Wegener's granulomatosis, non-Hodgkin's lymphoma.	false
+d9e2a9fb57bc408a9e63d3cf8bad9dd210c43dd4	We studied 59 patients with chronic anemias associated with high-erythropoietic activity (thalassemia intermedia, congenital dyserythropoietic anemia type I, congenital @PHENOTYPICFEATURE$), 8 patients with low-erythropoietic activity anemias (acquired aplastic anemia, Fanconi anemia, and @DISEASE$), and 20 healthy controls.	false
+dcb71b32ca25b3c7dc5579a6e01c904f310489ae	We evaluated a short, prepubertal 13.9 year-old boy with @DISEASE$ and significant liver iron stores due to multiple blood transfusions and found him to have several endocrine abnormalities, including hypothyroidism, @PHENOTYPICFEATURE$, primary and secondary hypogonadism and IGF-I insufficiency.	false
+378f0c9e2843f798ea973a4b284dc487b2b2c801	Multihormonal @PHENOTYPICFEATURE$, hypothyroidism and hypoparathyroidism in a 17-years-old girl with @DISEASE$ and secondary hemochromatosis.	false
+64f5524ac1335aff1a20db9fdb00c4f2b94214c2	@DISEASE$: a new chemosensitive @PHENOTYPICFEATURE$.	false
+9ea58dec0094da1a4fd10debced892b4738473c7	Aggressive @DISEASE$: a chemosensitive @PHENOTYPICFEATURE$.	false
+514f14e18b9802285b08083b298c5aea894f35df	@DISEASE$ are glial @PHENOTYPICFEATURE$, predominantly occurring in adults.	false
+163048350cfa70ffbb2621809addbedad8b5e6fb	Sarcoma-like @PHENOTYPICFEATURE$ originating from @DISEASE$.	false
+22b3b15960ed8de75dc876efbb51c4d35bfc2ead	The other two @PHENOTYPICFEATURE$-associated cases comprised @DISEASE$.	false
+d4f4a114ca7befdf9158347476d84c6ccdc8892c	Histologically, @PHENOTYPICFEATURE$ were characteristic for @DISEASE$.	false
+9a26ea05cc0e139a3184151442fefe327d4f0156	The @PHENOTYPICFEATURE$ was initially diagnosed as an @DISEASE$.	false
+9ea58dec0094da1a4fd10debced892b4738473c7	Aggressive @DISEASE$: a chemosensitive @PHENOTYPICFEATURE$.	false
+9d1c77c7186ac17d1280a004096e437e945e55da	Histology for all @PHENOTYPICFEATURE$ were either oligodendroglioma or had features of @DISEASE$.	false
+c29086bb7a180d6cbea7bb1ddff5b13657c7cf5b	Histology for all @PHENOTYPICFEATURE$ were either @DISEASE$ or had features of oligodendroglioma.	false
+9a26ea05cc0e139a3184151442fefe327d4f0156	The @PHENOTYPICFEATURE$ was initially diagnosed as an @DISEASE$.	false
+37714d016c8bca694d140a0be5f0eae36dc0b232	CYLD encodes a @PHENOTYPICFEATURE$ suppressor that is mutated in @DISEASE$.	false
+cd9ab1f1bf501859fdc425093dc2d31d04acd15d	Cutaneous appendage tumors: @DISEASE$ and associated @PHENOTYPICFEATURE$ update.	false
+7b7b334227636521484921b76bc5cb4212fd3b72	@DISEASE$ is an autosomal dominant predisposition to @PHENOTYPICFEATURE$ of skin appendages called cylindromas.	false
+30c83b81a73275d2748b76edec18484af29f0867	Treatment of @DISEASE$ is a challenge considering the localization and extensiveness of the @PHENOTYPICFEATURE$ masses.	false
+30f9389ff70fd71b3674b7bdf1f4646aa1baa618	Identification of the @DISEASE$ @PHENOTYPICFEATURE$-suppressor gene.	false
+2d3fde9fadc649883eb7e78fdb0c0c1d92b2acbd	Mild phenotype of @DISEASE$ associated with an R758X nonsense mutation in the CYLD @PHENOTYPICFEATURE$ suppressor gene.	false
+6033599d49939d3bcc796e75628e0ad57a84c69a	This report describes the ultrastructural characteristics of a Poncet-Spiegler @PHENOTYPICFEATURE$ (cylindroma, @DISEASE$).	false
+c4a2571b445ed2957481b92cfa9115d58c861a6d	CYLD is a deubiquitylase with @PHENOTYPICFEATURE$ suppressor functions, first identified in patients with @DISEASE$.	false
+809cb899a1de0392e0e4601f447562da4b0de090	CYLD was originally identified as a @PHENOTYPICFEATURE$ suppressor that is mutated in @DISEASE$.	false
+29d0a0107bc08bf437337ce03aa6d4ad83a0a3fb	CYLD was originally identified as the human @DISEASE$ @PHENOTYPICFEATURE$ suppressor.	false
+2743147378461d8d3a54f28c3a4a8271a5e84ecd	@DISEASE$ limb syndrome induced by a dopamine agonist in a patient with parkinsonism and @PHENOTYPICFEATURE$.	false
+726582cdf05f25513e29ff27f0bde27501bf84f2	More than 100 other clinical manifestations have also been described in the literature including @DISEASE$, @PHENOTYPICFEATURE$, and lymphatic as well as chylous mesenteric cysts.	false
+b1b0bc2535cd85e25d4b9c6cc7251583dd0b2f71	These diseases include dilated cardiomyopathy with variable @PHENOTYPICFEATURE$, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and @DISEASE$.	false
+c952df294613254619512fd1a2c68ddc1638c48b	Wilms' tumor is associated with several congenital syndromes such as WAGR (Wilms' tumor, aniridia, genitourinary malformation, @PHENOTYPICFEATURE$) syndrome, Denys-Drash syndrome, @DISEASE$, etc.	false
+af5a8a525a3f43ca9bdf37e3494f42a077b81629	@PHENOTYPICFEATURE$ and Short Femurs in @DISEASE$: A Report of Two Fetal Cases.	false
+6fab2264c1eec4524e8166ee03f5da6909888ed7	In tall patients without @PHENOTYPICFEATURE$ and some features of Sotos or @DISEASE$ it may still be useful to look for mutations in the NSD1 gene, but also for changes in the 11p15 region.	false
+99a493498b4de4978ad7afdbf71c423d0df6e771	Apart from the characteristic @DISEASE$ phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and @PHENOTYPICFEATURE$).	false
+c19224fe29b60956b496766e90765b7be6edabcd	@DISEASE$ (BWS) is an overgrowth syndrome associated with macroglossia, @PHENOTYPICFEATURE$, ear anomalies, and an increased risk for embryonic tumors.	false
+315cbc87ea76926e6ccf37bb0d34edf6e894d1db	Beckwith-Wiedemann syndrome (@DISEASE$) is an overgrowth syndrome associated with macroglossia, @PHENOTYPICFEATURE$, ear anomalies, and an increased risk for embryonic tumors.	false
+eb8701c32f70962d8eaf495d93f93a4e4921f50c	Because the BWS Walker is less expensive, simpler, and easier to operate than other @DISEASE$ systems, we believe the BWS Walker can be widely applicable in training for patients with severe and moderate @PHENOTYPICFEATURE$.	false
+5af458ad893823ba096cb16dbe21d5de2269cd1d	Although the phenotype and the genotype of @DISEASE$ is now well-known, the presence of @PHENOTYPICFEATURE$ and short femurs expand the phenotypic spectrum of the disorder.	false
+fd9813e730ad1e052eca932993e518e00fb6c115	The child with the c.415_416dup variant presented with two rare features observed so far in only a few @DISEASE$ patients with CDKN1C pathogenic variants: supernumerary flexion creases and @PHENOTYPICFEATURE$.	false
+7ab056c201de9f5a20c9de394a4647032715988d	Wilms tumor of the kidney occurs with increased frequency in association with two clinically and cytogenetically distinct congenital syndromes, the @DISEASE$ (WBS) and the triad of aniridia, genitourinary anomalies, and @PHENOTYPICFEATURE$ (WAGR).	false
+45b68128d70d84b038c46447c1fae3224b9ab39d	This case report describes the effects of locomotor training using body-weight support (@DISEASE$) on a treadmill and during overground walking on mobility in a child with severe @PHENOTYPICFEATURE$ who was nonambulatory.	false
+d74425adcbc7554914567b387c49652a8aecbd11	Lenz @DISEASE$ is an X-linked recessive disorder characterized by microphthalmia and dental, urogenital, and @PHENOTYPICFEATURE$.	false
+043a51fc9d00d6518f5c32fd1fe7b9b093f834f2	While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz @DISEASE$, the younger brother showed developmental delay, microcephaly, and @PHENOTYPICFEATURE$, but not the key feature of microphthalmia.	false
+5ff3e3e0350dd2a4642fa3bee6d0d22ec8818bf8	Lenz @DISEASE$ comprises microphthalmia with mental retardation, malformed ears, @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+9f86a696b0de03018922c6c213f2908c649f02d9	Lenz @DISEASE$ comprises microphthalmia-anophthalmia with mental retardation, malformed ears and @PHENOTYPICFEATURE$, and is inherited in an X-linked recessive pattern.	false
+10b9bc0aa5185e6812c459af7d5674ee0bdbe5fb	Lenz @DISEASE$ (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, @PHENOTYPICFEATURE$, genitourinary malformations, and anomalies of the digits, ears, and teeth.	false
+235a0f1ad3e5a0e15e3fc35553ed0e213e8a01c3	Childhood encephalomyopathy with @DISEASE$, ataxia, muscle wasting, and @PHENOTYPICFEATURE$.	false
+5f27d258cecbc392754b9ed1a59f4e787a513a43	T1 Gd-enhanced compared with @DISEASE$ sequences in retinoblastoma: superiority of T1 sequences in evaluation of @PHENOTYPICFEATURE$ extension.	false
+e47e4ead77dceba90e042796eeb80e4f80c43a0a	We report a 3-year-old boy with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d27431f636971f01848d6778abd6d93a79c204f9	Here, we report two unrelated girls with prenatal onset short stature, short neck, cervical @PHENOTYPICFEATURE$, @DISEASE$, and mild intellectual disability.	false
+996140fe356c6c06b8a79aff26e30d3a8ddc93dd	The @DISEASE$, diabetes, @PHENOTYPICFEATURE$, and some types of cancer are just a few examples of important diseases that are related to TR malfunctioning, particularly impaired hormone binding.	false
+a4f148072070dbbdb6d92231a6f8192f74f1ef77	Consecutive @DISEASE$ patients (vertigo, nystagmus, nausea/@PHENOTYPICFEATURE$, head-motion intolerance, unsteady gait) with a risk for central localization underwent structured bedside examination and neuroimaging.	false
+7ca2d1177a790cf1c05e4d80e007eb899d14360e	Consecutive patients with @DISEASE$ (vertigo, nystagmus, nausea/@PHENOTYPICFEATURE$, head-motion intolerance, unsteady gait) with >or=1 stroke risk factor underwent structured examination, including horizontal head impulse test of vestibulo-ocular reflex function, observation of nystagmus in different gaze positions, and prism cross-cover test of ocular alignment.	false
+69f2e96880766bb81373d56ff62b12bac0383658	This was a cross-sectional study of high-risk patients (more than one stroke risk factor) with acute vestibular syndrome (@DISEASE$; acute, persistent vertigo or dizziness with nystagmus, plus nausea or @PHENOTYPICFEATURE$, head motion intolerance, and new gait unsteadiness) at a single academic center.	false
+b6ec4969bd47e2791b9a7628deff2db0efb9f6e0	The acute vestibular syndrome (@DISEASE$) is characterized by the rapid onset of vertigo, nausea/@PHENOTYPICFEATURE$, nystagmus, unsteady gait, and head motion intolerance lasting more than 24 hours.	false
+c31d6e17dd7d3fe3a4b80937300ebc36c3ef59af	Ambispective cross-sectional study of patients with @DISEASE$ (acute vertigo or dizziness, nystagmus, nausea/@PHENOTYPICFEATURE$, head-motion intolerance, unsteady gait) with at least one stroke risk factor from 1999 to 2011 at a single stroke referral center.	false
+a74b27f2f36c52ac781a8088e04968322700045a	Further investigations showed unilateral @PHENOTYPICFEATURE$ and the most common mitochondrial DNA mutation associated with @DISEASE$, which was inherited from his mother.	false
+4002b369e2ce91b0a976ec4642c4b47f7acf559d	Examples of such disorders include @DISEASE$, mitochondrial non-syndromic @PHENOTYPICFEATURE$, and a form of mitochondrial hypertrophic cardiomyopathy.	false
+fd0bb29dd38545da4cac0b99e60c7506ae62ac2d	Tasmanian families have contributed to the identification of genes for X-linked megalocornea, @DISEASE$, retinitis pigmentosa, congenital cataract, @PHENOTYPICFEATURE$, keratoconus, glaucoma and myopia.	false
+d82f8619445c0313ec403f144b22785d68de251c	We thus tested the effect of miR-181a/b inactivation in different animal models of MDs, such as @PHENOTYPICFEATURE$ with linear skin lesions and @DISEASE$.	false
+c8fae83267a1e0f6206d5dac308c6a15f0fba79f	@DISEASE$ is an important cause of chronic @PHENOTYPICFEATURE$ and is characterized by selective involvement of the retinal ganglion cells.	false
+0589367253ddc76f99d32ecde296b3fdaa8ac59e	In doing so, we have examined a number of vision-related disorders including dry eye, @PHENOTYPICFEATURE$, increased intraocular pressure, glaucoma, age-related macular degeneration and @DISEASE$.	false
+4c6d0cb7d14c206dc9150cc271436cc13a9b4270	In single cases with Leigh's syndrome, MERRF (myoclonic epilepsy and ragged-red fiber) syndrome, @DISEASE$, and Friedreich's ataxia @PHENOTYPICFEATURE$ has been described.	false
+cb7d7911fe8124bea270bd7fa18e4d860f34a424	@DISEASE$ (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the population and it carries a @PHENOTYPICFEATURE$ prognosis.	false
+d827de904cee9a4c3bfacc538072d8d7e7557592	@PHENOTYPICFEATURE$ are easily detectable in patients with @DISEASE$ (LHON), using magnetic resonance imaging (MRI).	false
+1f6ec1c9096caded6089ff5faccdcff7842b95f4	@PHENOTYPICFEATURE$ is the most common optic neuropathy; autosomal-dominant optic atrophy (ADOA) and @DISEASE$ (LHON) are the most prevalent hereditary optic neuropathies.	false
+8cceddc79522e49df0cf80c660b04db7bcba46ec	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, @DISEASE$, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+e8c8e3ff4ac4c3168b181ee15623657ac97182a3	The proband in family 2 (with a P796S mutation) had mild @PHENOTYPICFEATURE$, in addition to @DISEASE$; more severe mental retardation was observed in his brother, who also had hemiplegic migraine and carried the same mutation.	false
+68dc7c7881d50b7c04b287bbe1d24736faba8516	Sturge-Weber syndrome with late onset @DISEASE$-like attacks and progressive unilateral @PHENOTYPICFEATURE$.	false
+be91ad179068532b30bf9a6adbc36fe4152d3341	99mTC HM-PAO SPECT brain imaging was performed during the headache-free period in 19 young @PHENOTYPICFEATURE$, affected by common migraine (CM, 10 cases), classic migraine (CLM, 6 cases) and @DISEASE$ (HM, 3 cases).	false
+634e3ee40b6dd5e68ba38de1da47910f4abadf28	@DISEASE$ due to a de novo @PHENOTYPICFEATURE$: a case report.	false
+d0d3aeaca7f9f5044bdb2cde5d592e490f9fe9e4	@DISEASE$, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal @PHENOTYPICFEATURE$, craniofacial anomalies, and variable ophthalmic manifestations.	false
+05eec5cce8194c47a4dfebac877969819adf6292	Other clinical features include @PHENOTYPICFEATURE$, brachydactyly, developmental delay, polyuria/polydipsia, ataxia, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, hepatic fibrosis, and @DISEASE$/dysplasia.	false
+b3aacf1387ce76207e3fd582fe643fbccdf05b78	Anomalies typical of Goldenhar syndrome included an epibulbar dermoid, auricular malformation, hemifacial microsomia, @PHENOTYPICFEATURE$, cardiac defects, pulmonary hypoplasia, @DISEASE$, and limb defects.	false
+61d3d7ed762a9355570ab1e0ee4c1d11a6aa81e5	No scar formation, @DISEASE$-/@PHENOTYPICFEATURE$ or infections were observed.	false
+42a62d0a09a75c65127baeade043668a55828441	Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmentation (including melasma), hypopigmentation (including oculocutaneous @PHENOTYPICFEATURE$ [OCA]), and mixed @DISEASE$-/hypopigmentation (including dyschromatosis symmetrica hereditaria).	false
+a1327769d2d676e048ee1de4d8982852d2814fcb	Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmentation (including melasma), @PHENOTYPICFEATURE$ (including oculocutaneous albinism [OCA]), and mixed @DISEASE$-/hypopigmentation (including dyschromatosis symmetrica hereditaria).	false
+bd6a0a16517304a9d361055b0371e2ac4c25e5f3	Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmentation (including melasma), hypopigmentation (including oculocutaneous albinism [OCA]), and mixed @DISEASE$-/@PHENOTYPICFEATURE$ (including dyschromatosis symmetrica hereditaria).	false
+852627a31b0f7153c1c25874b0d33c5bb516f2aa	The term cutis tricolor describes the combination of congenital @DISEASE$- and @PHENOTYPICFEATURE$ lesions in close proximity to each other in a background of normal complexion.	false
+4d2ba2f2b1def13509f164743bb7780a4f8bbbf3	@DISEASE$/@PHENOTYPICFEATURE$ and induration/fibrosis were commonly seen at 7-months follow-up (p = 0.84 and 0.83, respectively).	false
+5bc6a016628a6ba03c62806690e15c0cfee0c70b	Cutaneous lesions of HZ usually heal without any scarring and @DISEASE$/@PHENOTYPICFEATURE$.	false
+77737768f94b6a28363fbd94aa0452d839c74de6	Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis without systemic involvement and characterized by asymptomatic, progressive @DISEASE$- and @PHENOTYPICFEATURE$.	false
+cf7a7750cf6136d66fcce6663d9d37de8ea8974f	blistering (10-100%), and @DISEASE$-/@PHENOTYPICFEATURE$ (1.8-53.3%)	false
+5e1cce8a4a6ab30ea237308f336554f827096b9c	A finely wrinkled, band-like naevus associated with @DISEASE$- and @PHENOTYPICFEATURE$ spots: a new entity?	false
+13db3a13cdb85092c52a5cc4a47f739419b71d91	Hypertrophic scar, wound contraction and @DISEASE$-@PHENOTYPICFEATURE$.	false
+ad0888d078019fa8c57d880ba8f9729a99f838ff	Twelve patients had less than 20 soft drusen in the macular region and no hyper-/@PHENOTYPICFEATURE$ (early lesion), whereas seven had more than 20 soft drusen and/or focal @DISEASE$-/hypopigmentation (advanced lesion).	false
+d71d7cabe1d7481c5afe058d41f01ddc7bfdb69b	Twelve patients had less than 20 soft drusen in the macular region and no @DISEASE$-/hypopigmentation (early lesion), whereas seven had more than 20 soft drusen and/or focal hyper-/@PHENOTYPICFEATURE$ (advanced lesion).	false
+a486fa4efe747b0af7625960992d7843c9ab828a	Twelve patients had less than 20 soft drusen in the macular region and no hyper-/hypopigmentation (early lesion), whereas seven had more than 20 soft drusen and/or focal @DISEASE$-/@PHENOTYPICFEATURE$ (advanced lesion).	false
+983471eb90cce0d0e5f8edc6924e982bae3ed680	Twelve patients had less than 20 soft drusen in the macular region and no @DISEASE$-/@PHENOTYPICFEATURE$ (early lesion), whereas seven had more than 20 soft drusen and/or focal hyper-/hypopigmentation (advanced lesion).	false
+2b3480625a2337cc102f17ed723c57fe5ecf259f	Henoch-Sch?nlein purpura, mixed cryoglobulinaemia, hypocomplementaemia, drug and malignancy-associated vasculitis; arteritides of small and medium-sized arteries including polyarteritis nodosa, Kawasaki's disease, Wegener's granulomatosis, @DISEASE$, necrotizing sarcoid granulomatosis, thromboangiitis obliterans (Buerger's disease) and localized forms of arteritis; arteritides involving large, medium and small-sized arteries which includes giant cell (temporal) arteritis, Takayasu's disease and arteritis of collagen-vascular disease (rheumatoid arthritis, rheumatic fever, Beh?et's disease, Sj?rgren's syndrome, @PHENOTYPICFEATURE$ and systemic sclerosis.	false
+72d79b99d9ba42ed0a6d94d91e1ba1360f067749	This paper reviews the various vasculitides that affect the GI tract, including @PHENOTYPICFEATURE$, mixed connective tissue disease, Henoch Sch?nlein purpura, polyarteritis nodosa, @DISEASE$, Wegener's granulomatosis, microscopic polyangiitis, enterocolic lymphocytic phlebitis, and Behcet's disease.	false
+b92127b430e228b4a9e15582c30fc20d89f37890	This article summarizes the most common of these conditions, including sarcoidosis, idiopathic orbital inflammation, inflammatory bowel disease, Wegener's granulomatosis, polyarteritis nodosa, @DISEASE$, Behcet's disease, @PHENOTYPICFEATURE$, scleroderma, Sjogren's syndrome, and rheumatoid arthritis.	false
+89932a402415b4da41b16f138138926f206eb2fe	We aimed to investigate whether patients with @PHENOTYPICFEATURE$ (FS) show abnormalities of the gamma frequency steady-state visual evoked potential (SSVEP) components evoked by intermittent photic stimulation (@DISEASE$).	false
+c2c8f2b94d70db1abd43157ec408d874ba48d896	Karyometrical and cytochemical studies of Harding-Passey melanoma and Horning-@DISEASE$ kidney @PHENOTYPICFEATURE$.	false
+c2c8f2b94d70db1abd43157ec408d874ba48d896	Karyometrical and cytochemical studies of Harding-Passey melanoma and Horning-@DISEASE$ kidney @PHENOTYPICFEATURE$.	false
+c2c8f2b94d70db1abd43157ec408d874ba48d896	Karyometrical and cytochemical studies of Harding-Passey melanoma and Horning-@DISEASE$ kidney @PHENOTYPICFEATURE$.	false
+c2c8f2b94d70db1abd43157ec408d874ba48d896	Karyometrical and cytochemical studies of Harding-Passey melanoma and Horning-@DISEASE$ kidney @PHENOTYPICFEATURE$.	false
+49d70479a0c64ea2d3fffddced0938788f11dbbd	@DISEASE$ (NPC) is a neurometabolic genetic disorder that is distinguished from other types of Niemann-Pick disease by its later onset, more insidious progression, variable @PHENOTYPICFEATURE$, and abnormalities of intracellular cholesterol metabolism.	false
+b0142afd54ed93107e2760e6f767459d76c916a9	@DISEASE$ (NPC) is a neurometabolic genetic disorder that is distinguished from Niemann-Pick disease by its later onset, more insidious progression, variable @PHENOTYPICFEATURE$, and abnormalities of intracellular cholesterol metabolism.	false
+b4a61dd8a704b04c76ec172d74a9ee95d3f30b2a	Nonsyndromic @PHENOTYPICFEATURE$ are common craniofacial anomalies classified into two subgroups: @DISEASE$ and isolated cleft palate.	false
+cb0e1c573048ee0478220c74655b2fbd0a452c41	The causes of @PHENOTYPICFEATURE$ (@DISEASE$, CL/P, and cleft palate alone, CP) have not been established.	false
+9e10f32b40ef3cc0c70dfc607a760c6e5184b545	Nonsyndromic @PHENOTYPICFEATURE$ are craniofacial malformations, which include @DISEASE$.	false
+9762a6d1ce23dacb00b34240d91a8691f1c4df3e	Crude and multivariate-adjusted relative risks were calculated for all @PHENOTYPICFEATURE$ (n = 303), cleft palate (n = 108), and @DISEASE$ (n = 195).	false
+5eb6f2ff9247b73003702a5ef562a860feb92464	While many syndromes with @DISEASE$ (CL/P) or with cleft palate (CP) are recognized, the majority of @PHENOTYPICFEATURE$ fall into the category of "nonsyndromic oral clefts" and the etiology of this group remains incompletely understood.	false
+26bcdfb8e32f7bcf788e963ddea0abd3f0a7ceb9	While many syndromes with @DISEASE$ (CL/P) or with cleft palate (CP) are recognized, the majority of oral clefts fall into the category of "nonsyndromic @PHENOTYPICFEATURE$" and the etiology of this group remains incompletely understood.	false
+ebe81d353d355147c3215b37457765b93a8c0898	Some of the main oral manifestations include @PHENOTYPICFEATURE$, hyperdontia, and @DISEASE$, which is present in 14.6% of patients with this syndrome.	false
+76d4a1937ec479d0bf6ed5e46868e09d9834bfef	The induced terata included @DISEASE$, isolated cleft palate, @PHENOTYPICFEATURE$ or agnathia, and limb malformations.	false
+b7f2bc98c4eee2b52ca805b349a3cb3970684d57	For @PHENOTYPICFEATURE$ defects among all births, the only adverse association was between SO(2) and @DISEASE$ (OR 1.27, 95% CI: 1.01, 1.62).	false
+e9030205a3c56725ab23e3b1e3702c751532dfd2	On the contrary, LDs were more often bilateral than unilateral when associated with @DISEASE$ (OR, 3.9) or @PHENOTYPICFEATURE$ (OR, 2.6).	false
+f1c8d292dac3ba1e0ecd5e90e5d00513b5c4614b	Cancer risk was not increased with many common birth defects, including hypospadias, @DISEASE$, or @PHENOTYPICFEATURE$.	false
+c4701f746d9e73f21fdd4f7dccfd67c52684c3a7	Autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare childhood-onset spongiform @DISEASE$ with @PHENOTYPICFEATURE$ and slowly progressive deterioration of motor functions.	false
+3db49eb22f9e6cb50ccab84671453f4d5a35852f	We describe two unrelated girls with slowly progressive @DISEASE$ with @PHENOTYPICFEATURE$.	false
+4e3e09b4d1c3d8fb22c91c84d48697ff49617b57	Canavan disease is a severe autosomal recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.	false
+cec8a71a33438c0fbdf51050ab564f0848b6bc04	Canavan disease (CD) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and progressive @DISEASE$.	false
+f009a835dd7e440738307f20d7cf65ebb0bf286d	N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating @PHENOTYPICFEATURE$ and @DISEASE$.	false
+62f40b333e9b0c7232d3c3338d3a7430b91c119b	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a @DISEASE$ characterized by early-onset @PHENOTYPICFEATURE$ and delayed-onset neurological deterioration.	false
+c056f21ccd735e9f50b695f88e43c49bb5fa7e3f	As well as being a model for globoid @DISEASE$, the Twitcher is the first spontaneously occurring experimental model for endoneurial @PHENOTYPICFEATURE$ and increased endoneurial fluid pressure.	false
+43e974825d3aa7fbaac428af934b7f68ca7675d1	Canavan disease is an autosomal recessive @DISEASE$ characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, @PHENOTYPICFEATURE$ and blindness.	false
+4b46701e685dfd02db7cdfb0ed3a6ca4b8173faa	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of @DISEASE$ characterized by white matter @PHENOTYPICFEATURE$.	false
+816a4c710660b99ce1000296b26f5ab4c6bbd5b6	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare congenital @DISEASE$ characterized by @PHENOTYPICFEATURE$, subcortical cysts and demyelination.	false
+2b5ae079bb308716b2d33ce1de66f19c722a26ff	A 5-year-old boy was found to have severe rickets in association with hyperpigmented, linear, verrucous, epidermal @PHENOTYPICFEATURE$, typical of the @DISEASE$.	false
+fadce3b17e3f39449af03179cd1d49ef6f4344e6	@DISEASE$: epithelial and cutaneous @PHENOTYPICFEATURE$ without systemic disorders: a case report.	false
+5c584a9dc18ee8a2a7fba51a0d9de7584404958f	@DISEASE$ associated with adnexal @PHENOTYPICFEATURE$, spitz nevus, and hypophosphatemic vitamin D-resistant rickets.	false
+bfea18da4e3fd415382676e5850d38557c44db8c	Primary amenorrhea in a young Polish woman with @DISEASE$ and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the @PHENOTYPICFEATURE$.	false
+665c08b9dbd1e9fd62fc570892bb46beb59d3462	Deficiency of @DISEASE$ gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and @PHENOTYPICFEATURE$ with associated developmental delay.	false
+89f437f7d6e199209d3d7272451bbfd5b80473d7	Carbonic anhydrase II (@DISEASE$) deficiency is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and @PHENOTYPICFEATURE$.	false
+92d71dd983055ce99a67d60149ef82d63768becc	The carbonic anhydrase II (@DISEASE$) deficiency syndrome is a rare autosomal recessive osteopetrosis with renal tubular acidosis (RTA) and @PHENOTYPICFEATURE$ (MIM259730).	false
+9738935067b5fc28d5f2fef6e5b8b826af759bb5	Carbonic anhydrase II (@DISEASE$) deficiency in humans is associated with a syndrome of renal tubular acidosis, osteopetrosis, and @PHENOTYPICFEATURE$.	false
+9dd8ed913632ed6a11976ddc729387b12b9ab4a0	Carbonic anhydrase II (CAII)-deficient mice were created to study the syndrome of @DISEASE$ deficiency in humans including osteopetrosis, renal tubular acidosis, and @PHENOTYPICFEATURE$.	false
+41f9d240c669dea48ee0d98e85f9306b8a083a8f	Frequency of gonadal @PHENOTYPICFEATURE$ in @DISEASE$ (CAIS): A retrospective case-series analysis.	false
+6db6bb91cc7b501186b71bfb76a9a94d78ccdb2c	Carbonic anhydrase II (@DISEASE$) deficiency syndrome characterized by osteopetrosis (OP), renal tubular acidosis (RTA), and @PHENOTYPICFEATURE$ is caused by mutations in the carbonic anhydrase 2 (CA2) gene.	false
+28f5c71139fa16f6963bf15e011b7aec8283fffa	Post-pubertal @DISEASE$ (AIS) patients remain prone to @PHENOTYPICFEATURE$ development if the testes remain in the abdomen.	false
+36fc6a8c0583222ca31e3569a861212a97aa0b2e	Allogeneic bone marrow stem cell replacement cures the osteoclast component of @DISEASE$ deficiency and retards the development of @PHENOTYPICFEATURE$, but it appears to have little or no effect on the renal lesions.	false
+1a2f18a5a53e2328cd08fd5ef97d76bfe3304c5d	Twin one in addition had hydrocephalus and a ventriculoseptal @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1269c23e3a0d0ebb330dc5437f105fb2e1206bc5	Twin one in addition had @PHENOTYPICFEATURE$ and a ventriculoseptal heart defect (@DISEASE$).	false
+96661683e24cae40fc134081593a43be67901b80	Sonographic findings included growth retardation, @PHENOTYPICFEATURE$, ventricular septal defect (@DISEASE$), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia.	false
+2bdf6bd54ae4431bae400f76e3dfd1896a3bd06d	Sonographic findings included @PHENOTYPICFEATURE$, micrognathia, ventricular septal defect (@DISEASE$), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia.	false
+167396f2bfd2b68cf48a70df5b371eef42fb8863	The rare syndrome of almost complete trisomy 7q may be suspected in cases of @PHENOTYPICFEATURE$, cerebellar hypoplasia, micrognathia, aortic coarctation and @DISEASE$ and hydronephrosis.	false
+69efdb3d0969f56de450e29bf262a0ebf70b91ee	The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, @PHENOTYPICFEATURE$, aortic coarctation and @DISEASE$ and hydronephrosis.	false
+afe899fbf5a90e4a32ccd533aa5bf4d285b20ed0	Patients aged 2 months to 19 years old with a diagnosis of @DISEASE$, atrial septal defect, atrioventricular septal defect, @PHENOTYPICFEATURE$, aortic valve stenosis, or pulmonary valve stenosis with the need for follow-up echocardiography in an outreach clinic from August 2017 to June 2018 were studied.	false
+1c18d7497f8128f6219d35783a0adc39cda52e04	Patients aged 2 months to 19 years old with a diagnosis of @DISEASE$, atrial septal defect, atrioventricular septal defect, patent ductus arteriosus, @PHENOTYPICFEATURE$, or pulmonary valve stenosis with the need for follow-up echocardiography in an outreach clinic from August 2017 to June 2018 were studied.	false
+212eaa311439a70226fdb4e3a5d1fa2c5a0cc817	Perimembranous ventricular septal defect (@DISEASE$) is the most common @PHENOTYPICFEATURE$.	false
+0e990cc812f31a90dffc1d75e0454ac0c711952d	Perimembranous @DISEASE$ (VSD) is the most common @PHENOTYPICFEATURE$.	false
+7d9194e40c17cdd976203da72db55f68320ab106	Bilateral ductus arteriosus representing persistence of each sixth aortic arch; report of a case in which there were associated isolated @PHENOTYPICFEATURE$ and @DISEASE$.	false
+e0b3cb55a70ce62a04cf7461ce9cbb4a0d44940f	Here we describe a neonate with pulmonary atresia, @DISEASE$ and associated aortic valve stenosis and discuss the points of differentiation from @PHENOTYPICFEATURE$.	false
+d9d9408cb8fb781575e2d256f021695744e08dc9	Here we describe a neonate with pulmonary atresia, @DISEASE$ and associated @PHENOTYPICFEATURE$ and discuss the points of differentiation from truncus arteriosus.	false
+3af66857d18bfb37497c818b27d3bd7f98400993	Persistent @PHENOTYPICFEATURE$ was accompanied by ventricular septal defect (@DISEASE$).	false
+a0e0e18974baa399868f6f0005915db503b1e588	The diagnosis was interrupted aortic arch (IAA), ventricular septal defect (@DISEASE$), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, VSD, and LVOTO (n = 1).	false
+d66f0fc27c88015b3869db97d13b631e8af79ae9	The diagnosis was interrupted aortic arch (IAA), ventricular septal defect (VSD), and LVOTO (n = 3); IAA and @DISEASE$ (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, VSD, and LVOTO (n = 1).	false
+4a41c246a899364c891b35d7b6b9b357c968825a	The diagnosis was interrupted aortic arch (IAA), ventricular septal defect (VSD), and LVOTO (n = 3); IAA and VSD (n = 1); and aortic annular hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$, and LVOTO (n = 1).	false
+cc80636f74229804a7bb148bdde901ae8b47ccb4	We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (@PHENOTYPICFEATURE$, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (@DISEASE$, perimembranous type).	false
+1e31e70c10d53e0178a3f5b228eb9d97d8ce7ecc	We present a case which had thymic aplasia, @PHENOTYPICFEATURE$, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micrognathia) and congenital heart disease (@DISEASE$, perimembranous type).	false
+02a67c551738ca10d376ffe349987911d02b3315	We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and @PHENOTYPICFEATURE$) and congenital heart disease (@DISEASE$, perimembranous type).	false
+7e0d2fe833e789d43cc5387515414a285645dbff	Malignant lesions include primary bone tumours, @DISEASE$, plasmacytoma, lymphoma and @PHENOTYPICFEATURE$.	false
+f07d2887c60009e7efd257b6b1a2dd0a34490eb4	Patients with soft tissue @DISEASE$ were older than patients with @PHENOTYPICFEATURE$ (P = 0.03), and tended to have metastasis at diagnosis (P = 0.12).	false
+00b5cbbc154a27a2af0792b6b437cfa5df6ada0b	Pathologies were meningioma (8), esthesioneuroblastoma, lymphoma, @PHENOTYPICFEATURE$, @DISEASE$, and squamous cell carcinoma.	false
+f648792ec9f98f14dfc23caa06c318fa5e08174e	To test potential treatment regimes, we established a novel @DISEASE$ zebrafish engraftment model allowing time-effective, dynamic quantification of Ewing sarcoma @PHENOTYPICFEATURE$ and tumour burden in vivo, applicable for screening of single and combined compounds.	false
+60382ef5c5aa90cb9a0bd30201fd6a0daae12a14	To test potential treatment regimes, we established a novel Ewing sarcoma zebrafish engraftment model allowing time-effective, dynamic quantification of @DISEASE$ @PHENOTYPICFEATURE$ and tumour burden in vivo, applicable for screening of single and combined compounds.	false
+bd1773d7d4d212448af5594a3266f325b5f48799	These include osteosarcoma, chondroblastoma, @PHENOTYPICFEATURE$, adamantinoma, @DISEASE$, and primitive neuroectodermal tumor.	false
+2599e97717591efcf5d53a042d60923f3fe9e63a	Symptomatic @PHENOTYPICFEATURE$ occurred primarily in children with rhabdomyosarcoma and @DISEASE$.	false
+3aac26bcd063fe6ba91f960dccd10e4cd766d4f9	Primary sarcomas of the spine are rare diseases and include osteosarcoma, chondrosarcoma, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d4bf898c113d10c462f8f0b2121e8299d9bf52b9	These include 13 patients with @DISEASE$ and 3 with very rare primary sacral bone tumours in childhood--@PHENOTYPICFEATURE$, haemangiopericytoma and osteoblastoma.	false
+5cf02187614f1abb0e02d8b0722317cf542a0e74	@DISEASE$ (ES) is regarded as a @PHENOTYPICFEATURE$, with few instances of extra-skeletal ES.	false
+5dd3ea5835f500203a1e36c76ce5a868e96a8abf	Common primary nonlymphoproliferative malignant neoplasms of the spine include @PHENOTYPICFEATURE$, chondrosarcoma, @DISEASE$ or primitive neuroectodermal tumor, and osteosarcoma.	false
+deb501ccd4645f36395f4629318483ec1d23c208	We present the first case of an infant, born to consanguineous parents, with @DISEASE$, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external @PHENOTYPICFEATURE$, and syrinx of the spinal cord.	false
+9d9330b8c00d9c801c433ae64f01a8e76de75c79	Corneal @PHENOTYPICFEATURE$, aqueous tear deficiency, and @DISEASE$ following micropulse transscleral cyclophotocoagulation in dogs.	false
+19498df1ab87a85794fd8063d6638d758ff6e923	Corneal @PHENOTYPICFEATURE$ is the landmark of HSV and VZV keratitis and can lead to @DISEASE$.	false
+b1926eda93ba40da7b8845efb1eab3ceac7e3e52	The effects of hemorrhage and length/location of @PHENOTYPICFEATURE$ on changes in the value of the motor scale of the functional independence measure (@DISEASE$) were assessed on admission to and discharge from rehabilitation.	false
+2ca2f52ab0b846f935372734dd7ef8567a3dc761	Biparental/androgenetic mosaicism in a male with features of @PHENOTYPICFEATURE$ and placental @DISEASE$.	false
+6c06a05397dfb00b0900e5a6fffaf9e2ed4a06dd	Introduction?Placental @DISEASE$ is a rare vascular disease associated with @PHENOTYPICFEATURE$, fetal demise as well as Beckwith-Wiedemann syndrome.	false
+d8341367aeb4381b119cb0f797adcb5940aa64f8	[A study of an @DISEASE$ with facial and @PHENOTYPICFEATURE$ in rat].	false
+2beb390aa12c62f24873416a5bb5ae7bac3fc9f0	This pictorial essay aimed to illustrate the essential findings of common conditions encountered with HR-VWI including intracranial atherosclerosis, moyamoya disease, intracranial @PHENOTYPICFEATURE$, varicella zoster vasculopathy, @DISEASE$ and aneurysms.	false
+cacdce1fd48c20b79e8891f24c533aecfc839172	Main features of @DISEASE$ are @PHENOTYPICFEATURE$ concomitant with premature loss of primary and permanent dentition due to progressive periodontitis.	false
+2bae1fb7ec84a0f672857adb2ccfef317f4fda69	Papillon-Lef?vre syndrome (@DISEASE$), @PHENOTYPICFEATURE$ with periodontitis, has been genetically characterized.	false
+d5f75f0dfb56e152c9136dcdf260099dd0c78ee8	Papillon-Lef?vre syndrome (@DISEASE$) is an autosomal recessive disease, characterized by severe periodontitis and @PHENOTYPICFEATURE$.	false
+f1742e99d17cffb5e2de5def40a50ffa7b7842fa	Papillon-Lef?vre Syndrome (@DISEASE$) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and severe periodontitis affecting both primary and secondary dentitions.	false
+b64e764277598b095b7acb9d08cf7cf8a3d9402f	Papillon-Lef?vre syndrome (@DISEASE$; OMIM 245000) is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ and periodontitis.	false
+f2d4b5c6f4c598708f52ea8d66fe0f50edd436cf	Papillon-lefevre syndrome (@DISEASE$) belongs to a heterogeneous group of skin diseases that are characterized by @PHENOTYPICFEATURE$.	false
+f303473b640b49a288d0d015d1f04ff53cf9a430	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder of keratinization, characterized by @PHENOTYPICFEATURE$, periodontal involvement and precocious loss of dentition.	false
+801f1c35bd099263eb47541bf049c41efd6e549b	Papillon-Lef?vre syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ caused by cathepsin C (CTSC) gene mutations.	false
+3009742f6662e5a467e7ba427c34df6a0b2ac845	Papillon-Lefevre syndrome (@DISEASE$) is an autosomal recessive disorder characterised by severe early onset periodontitis and @PHENOTYPICFEATURE$.	false
+1c6d676cb1f0ae4e504e2643754805059babcebf	Papillon- Lef?vre syndrome (@DISEASE$) is a rare autosomal recessive disorder of keratinization characterized by @PHENOTYPICFEATURE$, periodontopathy and precocious loss of dentition.	false
+24b86fa793913cd289f27b2474e2c30188d2efae	The differential diagnosis for unresponsive disease includes poorly controlled asthma, noncompliance with medical regimen, vocal cord dysfunction, rhinosinusitis, gastroesophageal reflux disease or recurrent aspiration, foreign body aspiration, allergic bronchopulmonary aspergillosis, Churg-Strauss vasculitis, cardiac disorders such as congestive heart failure or @PHENOTYPICFEATURE$, or other pulmonary disorders such as chronic obstructive pulmonary disease, @DISEASE$, interstitial lung disease, bronchiectasis, sarcoidosis, hypersensitivity pneumonitis, pulmonary embolism, cystic fibrosis, airway neoplasms, or laryngotracheomalacia.	false
+e67c110b39f9d47b2cad279854a0398d69e99b2b	The patient and also 4 of the 5 members of her family have a lowered alpha 1 antitrypsin rate serum but the whole family is homozygote phenotype Pi M. The association @DISEASE$ bilateral @PHENOTYPICFEATURE$ has not been described to our knowledge.	false
+583cb034dee061a749de6f3adae0465a67428f47	The concentrations and molecular forms of prealbumin, orosomucoid, albumin, alpha 1-antitrypsin and haptoglobin in leucocytes were studied in patients with @DISEASE$, in acute phase and with @PHENOTYPICFEATURE$, by rocket and crossed immunoelectrophoresis.	false
+f4b11dd72497eb7ef302510ff9fbcc2408c2c1c9	In particular, non-random occurrence was revealed for SERPINA1 c.1096G?>?A (@DISEASE$), C8B c.1282C?>?T and c.1653G?>?A (complement component 8B deficiency), ATP7B c.3207C?>?A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G?>?T (non-classical form of adrenogenital syndrome), EYS c.1155T?>?A (retinitis pigmentosa), HADHA c.1528G?>?C (LCHAD deficiency), SCO2 c.418G?>?A (cytochrome c oxidase deficiency), OTOA c.2359G?>?T (@PHENOTYPICFEATURE$), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T?>?C (VLCAD deficiency), TGM5 c.337G?>?T (acral peeling skin syndrome) and VWF c.2561?G?>?A (von Willebrand disease, type 2N).	false
+5df7559e76552b18640fffee1b86d1840dc50249	The case was also remarkable for moderate @PHENOTYPICFEATURE$, thrombosis of the portal and splenic veins and liver cirrhosis caused by @DISEASE$ (phenotype MZ).	false
+5214576359197a96bbe22f4aef3ba41fc3221b71	@DISEASE$ (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), @PHENOTYPICFEATURE$, and peripheral sensory neuropathy.	false
+5b079696a9c38882b0e80e962735ad6024c8ad5b	@DISEASE$ (SMARD1), also known as distal spinal muscular atrophy 1 (DSMA1) or distal hereditary motor neuropathies type 6 (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, distal muscular weakness and @PHENOTYPICFEATURE$.	false
+4776b7eaf29e5b02c052e801b3dec7a5a14b23df	Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal muscular atrophy 1 (DSMA1) or @DISEASE$ (dHMN6), is a rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, distal muscular weakness and @PHENOTYPICFEATURE$.	false
+15069fdc5fb35e2a31e5f8d43deb913bd590a648	@PHENOTYPICFEATURE$ and diaphragmatic palsy are the clinical characteristics of @DISEASE$ (SMARD1), and are well represented in the neuromuscular degeneration (Nmd(2J) ) mouse, modeling the juvenile form of SMARD1.	false
+fed99f8e5412fd39ecb605d76d643ef91aa854a0	Open prenatal myelomeningocele (MMC) repair is typically associated with reversal of in utero hindbrain herniation (@DISEASE$) and has been posited to be associated with a reduction in both postoperative prenatal and immediate postnatal @PHENOTYPICFEATURE$ (HCP) risks.	false
+5a9acd3d59954d3cbde0bc7a117f94c83c21a922	GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint contractures, tracheal-bronchial stenosis and cardiac valve anomalies, whereas @DISEASE$ is non-lethal and characterized by @PHENOTYPICFEATURE$ and severe skin fibrosis.	false
+55971317ca19443fb6a70c03f337daedd27a2856	GD is a severe, often lethal, condition presenting with @PHENOTYPICFEATURE$, brachydactyly, stiff skin, joint contractures, tracheal-bronchial stenosis and cardiac valve anomalies, whereas @DISEASE$ is non-lethal and characterized by short stature and severe skin fibrosis.	false
+1bbb0f23bfcd8333a908816c9781910f1db19e05	The pathogenesis of monocular @PHENOTYPICFEATURE$ and binocular amblyopia is probably different, thus @DISEASE$ examination can help assess prognosis.	false
+106680f7cb280b21bc4f15156a0b37c49a0c741e	The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich @PHENOTYPICFEATURE$, @DISEASE$ and human immunodeficiency virus-associated distal-symmetric neuropathy.	false
+12234a46ce0d39bf92a22ecaa6a674d45965a6db	Further, by dissecting the complex clinical presentation of Boucher-Neuh?user syndrome and Gordon Holmes syndrome into its neurological system components, we set out to analyse an additional 538 exomes from families with @PHENOTYPICFEATURE$ (with and without hypogonadism), pure and complex hereditary spastic paraplegia, and @DISEASE$. We identified four additional PNPLA6 mutations in spastic ataxia and hereditary spastic paraplegia families, revealing that Boucher-Neuh?user and Gordon Holmes syndromes in fact represent phenotypic clusters on a spectrum of neurodegenerative diseases caused by mutations in PNPLA6.	false
+c4ea69dbf3786d11f5db2a32636c67146c7c2fef	Early @PHENOTYPICFEATURE$ in premature infants at risk for @DISEASE$ or death.	false
+2b3580b3f4e37005b1f7c2092149d9348cce5bdb	In addition to chronic lung disease, preterm newborns with BPD are more likely to develop @PHENOTYPICFEATURE$, cerebral palsy, and cognitive impairments compared with preterm newborns without @DISEASE$.	false
+711eb7cd8ddf7064ed5abb30b5cddc298b4f1e46	In addition to chronic lung disease, preterm newborns with @DISEASE$ are more likely to develop @PHENOTYPICFEATURE$, cerebral palsy, and cognitive impairments compared with preterm newborns without BPD.	false
+00028fb3e8609f899b3431fa2932b8667adf3451	@DISEASE$, >Grade 2 intraventricular hemorrhage, or necrotizing enterocolitis) with a 2-year @PHENOTYPICFEATURE$ were evaluated.	false
+73eda1a11757e789290bbffae4fe5a14ac91fa57	On logistic regression, only @DISEASE$ was associated with @PHENOTYPICFEATURE$.	false
+85d332097a4077af206851b8cfc97da97d954b3f	Important sequelae especially of extreme preterm birth are @DISEASE$ (BPD), impaired growth and @PHENOTYPICFEATURE$.	false
+01b78b76fad5cfbcdf68853e968edbcdd2a3665b	Important sequelae especially of extreme preterm birth are bronchopulmonary dysplasia (@DISEASE$), impaired growth and @PHENOTYPICFEATURE$.	false
+e331bda5fd93b81f5fe9f04d590215c0310a227f	Bronchopulmonary dysplasia (BPD), a common complication of preterm birth, is associated with pulmonary @PHENOTYPICFEATURE$ (PH) in 25% of infants with moderate to severe @DISEASE$.	false
+f020aac21d46e08c15c7ebd955b29801ecea9232	@DISEASE$ (BPD), a common complication of preterm birth, is associated with pulmonary @PHENOTYPICFEATURE$ (PH) in 25% of infants with moderate to severe BPD.	false
+aa6c4a25e74c8b25080a8045052687b56520fc8c	Bronchopulmonary dysplasia (@DISEASE$), a common complication of preterm birth, is associated with pulmonary @PHENOTYPICFEATURE$ (PH) in 25% of infants with moderate to severe BPD.	false
+1f7d1551a3ae0b09d5c5a83048702ace656e77b9	The diagnosis of @DISEASE$ predicts multiple adverse outcomes including chronic respiratory impairment and @PHENOTYPICFEATURE$.	false
+9597a69ac016c7a82b50875182fdd8dcb3ca6e7c	@DISEASE$ is a severe and potentially life-threatening disorder that in the most serious cases, can open the way to @PHENOTYPICFEATURE$.	false
+b51a2ede34fa5e205af311199f978977119f5dd4	The presence of a G-tube, younger gestation, @DISEASE$, or intraventricular hemorrhage was associated significantly with @PHENOTYPICFEATURE$.	false
+18807c66e2b5bdb48803496b0ce5faa0c3029f52	Infants who survive NEC have various complications, such as nosocomial infection, malnutrition, growth failure, @DISEASE$, retinopathy of prematurity, and @PHENOTYPICFEATURE$.	false
+408b11922fba9bed667327d728e112310ad094bf	gamma-glutamyl transpeptidase (gamma-GT) deficiency in GGT(enu1) mice is associated with glutathionemia, @DISEASE$, growth retardation, infertility, lethargy, @PHENOTYPICFEATURE$, and shortened life span.	false
+29d89b0f7f6fa5bf7ee7d6b0e85fd0e6d9082747	Histological examination of the @PHENOTYPICFEATURE$ showed coexistence of relatively large gangliocytoma cells and pituitary adenoma cells, suggesting mixed @DISEASE$-pituitary adenoma.	false
+3d1ef84444003a54c443de255b51317836178284	Histological examination of the @PHENOTYPICFEATURE$ showed coexistence of relatively large @DISEASE$ cells and pituitary adenoma cells, suggesting mixed gangliocytoma-pituitary adenoma.	false
+6ab9189eeeb0ef708ae63a311e1b834c4b12c4af	The @PHENOTYPICFEATURE$ differentiated to @DISEASE$ in both patients.	false
+a9f86e4cc182b6b00cb0cb9d47f8c2db55330f0c	Collision @PHENOTYPICFEATURE$ of anaplastic oligodendroglioma and @DISEASE$: a case report.	false
+e37f596bcd5100af409145be2e455db37982a90a	@DISEASE$ is a slowly growing and non-metastasizing @PHENOTYPICFEATURE$.	false
+e1b33afb881a7cf39deef788fa7a011ebbfee42d	Histopathologic examination revealed a collision @PHENOTYPICFEATURE$ of GH-secreting adenoma and @DISEASE$.	false
+2ee662eff9c1622ad20bcddd2e3575aee38de1ed	They include: @DISEASE$, ganglioneuroma, Lhermitte-Duclos disease and dysembryoplastic neuroepithelial @PHENOTYPICFEATURE$.	false
+bb490a4fd3132f237cd5b45a2869da73adf3e194	Supratentorial @DISEASE$ mimicking extra-axial @PHENOTYPICFEATURE$: a report of two cases.	false
+a08b7cacda1bd8beba40ea67930cd09a65a65a59	The resected @PHENOTYPICFEATURE$ was composed of a mixture of oligodendroglioma, @DISEASE$, and neurocytoma areas with predominance of gangliocytoma-like areas.	false
+52662cdb2e9782b44cf9f20e6a768cae0df1ef56	The resected @PHENOTYPICFEATURE$ was composed of a mixture of oligodendroglioma, gangliocytoma, and neurocytoma areas with predominance of @DISEASE$-like areas.	false
+762f0030b84c725ec7094b356df21b9dc963313c	@DISEASE$: outcome of a rare silent pituitary @PHENOTYPICFEATURE$.	false
+6c95b06b2405c2b760a49dc9fc9d89a13c8e82ab	[An intracranial collision @PHENOTYPICFEATURE$ composed of intrasellar @DISEASE$ and pituitary adenoma].	false
+90c57d9221c957e048f84ff2cd38c23a5d6bb27d	Electrical status epilepticus during slow sleep/continuous spike wave discharges during sleep (ESES/CSWS), atypical benign partial epilepsy, and @DISEASE$ are epileptic encephalopathies with substantial behavioral and @PHENOTYPICFEATURE$, various seizures, and continuous spike-wave activity during non-rapid eye movement (NREM) sleep.	false
+fa7a2b598a60f4c61841519946f346081a723e06	This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich @PHENOTYPICFEATURE$ (FA), Alstr?m syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), @DISEASE$ (BSS) and Down syndrome (DS).	false
+b0a9b453e81e223a9a1f7b43c1a3864e59df0d69	The authors describe a patient with features of the median cleft face syndrome (@PHENOTYPICFEATURE$, V-shaped hairline, and developmental delay) who exhibited duplication of the pituitary gland and diffuse thickening of the hypothalamus (@DISEASE$) as shown by MR.	false
+ed0455d0f00c56242d27d003772b7a77e42bf0c6	No reported cases of GCPS have @DISEASE$ and PHS does not cause @PHENOTYPICFEATURE$ or broadening of the nasal root or forehead.	false
+59e13a185a5aae6322d9f848eba2228939e41d79	These defects include anophthalmia (absence of eye), microphthalmia (small eye) and @DISEASE$ (HH), an @PHENOTYPICFEATURE$ of the ventral hypothalamus.	false
+e860043fd63d46177840cf0206afe69e5c87ed8b	Carbamazepine is a frequently used drug that can produce adverse reactions like @PHENOTYPICFEATURE$, somnolence and severe skin reactions like @DISEASE$ Syndrome (DRESS Syndrome).	false
+4beba7879fbe8830704273b041da22d13a8a038f	Mutations in creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CTD), an orphan neurodevelopmental disorder presenting with brain Cr deficiency, intellectual disability, seizures, movement and autistic-like @PHENOTYPICFEATURE$, language and speech impairment.	false
+383416ab74d0845fd07e2c74382e6f9096ea0bcf	Mutations in the creatine (Cr) transporter (CrT) gene lead to @DISEASE$ (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement? and @PHENOTYPICFEATURE$, language and speech impairment ( OMIM #300352).	false
+fcd2258bf3f259d28fab36dbb9924ab56b301869	Mutations in the coding sequence of the human creatine transporter-1 (hCRT-1/SLC6A8) gene result in a @DISEASE$ syndrome, which varies in its clinical manifestation from epilepsy, mental retardation, @PHENOTYPICFEATURE$, development delay and motor dysfunction to gastrointestinal symptoms.	false
+b3a11c1572812d8bcfd1a0bab9187bbeca21f6cf	In addition, patients may experience @PHENOTYPICFEATURE$ that can potentially lead to complications such as erosive oesophagitis and Barrett's oesophagus, and may be a risk factor for development of @DISEASE$.	false
+df8801712011fe8dfc67823d0257e7a34832fbaf	We describe a case of a 57-year-old male, previously confirmed to have obstructive @DISEASE$ with local mediastinal and esophagogastric lymph node involvement undergoing chemotherapy, who presented with altered mental @PHENOTYPICFEATURE$, headache, nausea, 15-pound weight loss, and neck stiffness.	false
+50d3adbe6f71d9d16af5cd60a476e0eee949ea53	Kearns-Sayre syndrome, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3fa98fa3a64ab4728b68bd9f2d77ee24a7a254e7	Bilateral @PHENOTYPICFEATURE$ and recurrent generalized seizures as initial presentation of idiopathic @DISEASE$ in an infant.	false
+105e73504bdadc5fe1daed1bdbc263e7c703298b	Bilateral basal ganglia calcification and recurrent @PHENOTYPICFEATURE$ as initial presentation of idiopathic @DISEASE$ in an infant.	false
+a028e8f7b1c6e4ad7ed4275514a984449dc846f8	[Primary @DISEASE$ with @PHENOTYPICFEATURE$: report of a case].	false
+ef8d1513896d9240ca49f8e1d1be09b690d4e66c	@DISEASE$ with @PHENOTYPICFEATURE$ is clinically rare.	false
+53029b9cfc1b9e5431dfe7fb303120f74e8e305e	[The therapy of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+2c8293190242ecf98bd915e81a9b35e7816aff02	Idiopathic @DISEASE$ with @PHENOTYPICFEATURE$, epilepsy, and interictal focal hyperperfusion.	false
+0b1a5b1a1a9f402c073861ca5c20edb9ccd900a0	Diffuse skeletal @PHENOTYPICFEATURE$ in idiopathic @DISEASE$.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+b38c057b8e991717b768107ab8d2a89e8925e4e2	@PHENOTYPICFEATURE$, @DISEASE$, and extrapyramidal motor manifestations.	false
+850050f27b8a89e941274c815520588780346eb6	@DISEASE$ is a common cause of @PHENOTYPICFEATURE$.	false
+ea4ef8e4188016382bea778f89a65e429211a83b	Facial weakness and @PHENOTYPICFEATURE$: Expanding the clinical heterogeneity of @DISEASE$ from a novel gene mutation.	false
+f2248527800959bfd2e780c18682ce89ae629f18	In the context of the "orthodox" view which links @PHENOTYPICFEATURE$ and diabetes, and its relation to the controversy, we analyse on one hand the effects of thiazolidine-diones on insulin sensitivity and on adipogenesis and, on the other hand, those of extreme situations represented by @DISEASE$ and morbid obesity.	false
+f3005b9c0174a9617ff0c220ad2d1c0c85c02b14	Although leptin therapy has limited success in common @PHENOTYPICFEATURE$, it has impressive effects in congenital leptin deficiency, @DISEASE$ and syndromes of severe insulin resistance.	false
+bbe4cb9c04787d507dea87f7cdf5731f25dc659a	These investigations are especially useful in genetic syndromes of extreme insulin resistance, whose pathophysiology is largely unelucidated, including: insulin resistance syndromes with acanthosis nigricans, @PHENOTYPICFEATURE$-acanthosis nigricans-hyperandrogenism syndrome, @DISEASE$, leprechaunism, and other syndromes.	false
+f84223689261aa468466e8e40e76a0b884b3315f	@PHENOTYPICFEATURE$ and @DISEASE$ attacks.	false
+040c16cb6c67262001e2e9ade1fd70be02769a50	The infants' discharge diagnoses were bronchopulmonary dysplasia (@DISEASE$) (39), @PHENOTYPICFEATURE$ (2), and congenital cardiac defects (3).	false
+81734cb2ac9e7fd51f23bd7cf7f3f8353226d3f8	The infants' discharge diagnoses were @DISEASE$ (BPD) (39), @PHENOTYPICFEATURE$ (2), and congenital cardiac defects (3).	false
+67ffb7ac8c999bdfe47e93b45168de7535653cb2	Excessive gas exchange impairment during exercise in a subject with a history of @DISEASE$ and high altitude @PHENOTYPICFEATURE$.	false
+ee2b9d6605e2e48322dd77197a911433ef133a17	The incidence of co-morbidities, such as diabetes, @PHENOTYPICFEATURE$, hypertension, hyperlipidemia, joint problems, and chronic obstructive pulmonary disease was reduced after @DISEASE$/DS.	false
+b2fd3815fbf2b8edcab0d26fc1a2e5c522ba27e2	Autopsy showed cytomegalovirus infection complicated with interstitial pneumonitis and @PHENOTYPICFEATURE$, subacute @DISEASE$ with interstitial fibrosis, and adrenalitis.	false
+a784347cf7706a0f9dc31271ce99a8581fc731b1	Babies with chronic bronchopulmonary dysplasia (@DISEASE$) can sometimes develop pallor, systemic and @PHENOTYPICFEATURE$, oliguria, and hyponatremia not attributable to cardiopulmonary or renal impairment.	false
+b64a2a4a9fe641af18ddb16641560ad9572d188d	Babies with chronic @DISEASE$ (BPD) can sometimes develop pallor, systemic and @PHENOTYPICFEATURE$, oliguria, and hyponatremia not attributable to cardiopulmonary or renal impairment.	false
+987dcdf4b3f21e4ab674000ee968858ed9b252d7	Twenty-two infants previously required ventilatory support, 11 patients had @PHENOTYPICFEATURE$/bradycardia, and 9 patients developed @DISEASE$.	false
+06b42ac79acce8a4c5188dfffec9f0266f0cff6d	@DISEASE$: possible relationship to @PHENOTYPICFEATURE$.	false
+2543e06a680d1c28170d230843c3d49a8ff5b9a9	Most patients with @DISEASE$ also report insomnia when in depression, but a significant percentage of patients report @PHENOTYPICFEATURE$ symptoms with prolonged nighttime sleep, difficulty in wakening, and excessive daytime sleepiness.	false
+ce79a322622ee90586f2f00ea1522c0c68cf86c6	It was speculated that @PHENOTYPICFEATURE$ and increased vagal tone may contribute to small airway dysfunction in children who have @DISEASE$.	false
+e3dc9254763db0fde974a69c23ba22f8c144af20	The smaller infants, even after initial clearing, were prone to develop @PHENOTYPICFEATURE$ and the bubbly lungs of @DISEASE$.	false
+8aa7c9b765458d5b54537291ad1dd2a7d07c6c7e	Patients with @DISEASE$ (PSIS) are initially referred for hypoglycemia during the neonatal period or @PHENOTYPICFEATURE$ during childhood.	false
+4dfa79a267ee42d736de4720660fbe780dddcf43	There is a wide variety of phenotypes depending on the transcription factor involved: PROP1 (somatolactotroph, thyrotroph, gonadotroph, and sometimes corticotroph deficiencies?; pituitary hyper- or hypoplasia), POU1F1 (somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph, thyrotroph, and gonadotroph deficiencies, @PHENOTYPICFEATURE$, and limited head and neck rotation), LHX4 (variable pituitary deficiencies, ectopic neurohypophysis, cerebral abnormalities), and OTX2 (variable pituitary deficiencies, @DISEASE$, ocular abnormalities).	false
+b05587ee3ce2d82899506a3fe2a8a9f2e01d78e1	There is a wide variety of phenotypes depending on the transcription factor involved: PROP1 (somatolactotroph, thyrotroph, gonadotroph, and sometimes corticotroph deficiencies?; pituitary hyper- or hypoplasia), POU1F1 (somatolactotroph and thyrotroph deficiencies, pituitary hypoplasia), HESX1 (variable pituitary deficiencies, septo-optic dysplasia), and less frequently LHX3 (somatolactotroph, thyrotroph, and gonadotroph deficiencies, @PHENOTYPICFEATURE$, and limited head and neck rotation), LHX4 (variable pituitary deficiencies, @DISEASE$, cerebral abnormalities), and OTX2 (variable pituitary deficiencies, ectopic neurohypophysis, ocular abnormalities).	false
+7a35e6ad5e8425f5ab489051b8f3052d358c9284	The most remarkable clinical manifestations of patients with @DISEASE$ were @PHENOTYPICFEATURE$, partial or complete adenohypophyseal dysfunction.	false
+f19e99263ffe21535ea7a419312ef3ab1de91eae	This study aimed to investigate sleep patterns, sleep disturbances and possible factors that are associated with @PHENOTYPICFEATURE$ among children with @DISEASE$ (FMF).	false
+a57b752aca99109c6ff27de272612726bd17839e	This study aimed to investigate sleep patterns, sleep disturbances and possible factors that are associated with @PHENOTYPICFEATURE$ among children with familial Mediterranean fever (@DISEASE$).	false
+e5cce92431a21afbff10960311b2c1c2ef66d5a0	This study aimed to investigate sleep patterns, @PHENOTYPICFEATURE$ and possible factors that are associated with sleep disturbances among children with familial Mediterranean fever (@DISEASE$).	false
+d261f174b9fef4ee76acaaff29c98ec5bfd87585	This study aimed to investigate sleep patterns, @PHENOTYPICFEATURE$ and possible factors that are associated with sleep disturbances among children with @DISEASE$ (FMF).	false
+88c18b43c9176c78fa4bb8db1e6e81c87de7e6ca	@PHENOTYPICFEATURE$ in children with @DISEASE$: Coincidence or association?	false
+c2121e8828cd720b4a5c982b88ebec8ec90e254d	This study showed for the first time that children with @DISEASE$ had more @PHENOTYPICFEATURE$ than their healthy peers.	false
+a4e3cf4930a8ac051348c955fb4ac78f51ba83bb	@DISEASE$ group had increased pain, fatigue, @PHENOTYPICFEATURE$ and decreased quality of life compared to control group.	false
+540e428deac9c465c058cf1dbc674d5d1f37abeb	Although this finding may be related to high fever during @DISEASE$ attacks in individuals with genetic propensity of @PHENOTYPICFEATURE$, it may also be a neurologic complication of FMF.	false
+e3fec40ae6a9ba39dc96031be6b7e08bbc41133f	Although this finding may be related to high fever during FMF attacks in individuals with genetic propensity of @PHENOTYPICFEATURE$, it may also be a neurologic complication of @DISEASE$.	false
+463b89a8c12835f7b801196facc5d278569f6c04	The frequency of @PHENOTYPICFEATURE$ in children with @DISEASE$ was found to be higher than the general population.	false
+914c7ea57e618f40c463c7899e8cfc2eb0ebceaa	Incidence of @PHENOTYPICFEATURE$ in patients with @DISEASE$ and the relation of sleep quality with disease activity.	false
+ef53e5f5d2c91cf0c007baa2dbb886089e14224e	The frequency of @PHENOTYPICFEATURE$ in children with @DISEASE$ was found as 13.4%, which is higher than the general population [p?=?0.04, OR: 2.9 (95% CI: 1.0-8.5)].	false
+c8d4ed100171c1b1a2120157e305622ccdfc8398	Besides the well-known clinical features of @DISEASE$, we found lichen spinulosus-like lesions in association with @PHENOTYPICFEATURE$ (n = 3) and alopecia (n = 2), infiltrated/elevated erythematous facial plaques initially considered to be lupus tumidus (n = 2), pseudotumoral lesions clinically mimicking tumor-stage MF (n = 1), persistent excoriations (n = 1) and erythematous facial papules mimicking rosacea (n = 1), as well as white dome-shaped asymptomatic papules/nodules filled with mucin (on histology) (n = 2) that overlay other disease-related lesions.	false
+e18a53004ce91e61e36a45547a4f79742e5fe508	We report the case of a 7-year-old girl operated for @DISEASE$ who developed @PHENOTYPICFEATURE$ cardiac arrest in the post-operative period.	false
+46d197b02aa4f229bbd8e4370bed7dcc5cd81a4b	The patient developed gradual loss of vision after two years and a review CT scan revealed the local recurrence of tumour with dystrophic @PHENOTYPICFEATURE$, frontal and temporal subcortical regions representing recurrent @DISEASE$ with radiation-induced mineralizing microangiopathy.	false
+3cca4f3f8eb10b4204adb0da2131a70c6adfde82	In the control group of @PHENOTYPICFEATURE$, with the exception of @DISEASE$, enzyme activity was either at trace level or altogether absent.	false
+1ea33c4c995bdf9773861e8ca5aef6c3550a42b6	In contrast, normal tissue mast cells and their related @PHENOTYPICFEATURE$, such as @DISEASE$ or solitary mastocytoma, were constantly positive for YU-311.	false
+c11c14fca31677355bd92e187742aad92e96bd3b	We have used the monoclonal antibody PC10 to study MCs in reactive or hyperplastic states (chronic non-specific lymphadenitis, n = 10; benign and malignant solid @PHENOTYPICFEATURE$, n = 5) and in the various subtypes of mastocytosis (@DISEASE$, n = 22; solitary mastocytoma of the skin, n = 7; systemic mastocytosis; n = 8; malignant mastocytosis, n = 4).	false
+63df19aa4cd5b2dc044437395206a3711a503e14	Association of @DISEASE$ with caf?-au-lait spots, neurofibromas and neurofibroma-like @PHENOTYPICFEATURE$: a mere coincidence?	false
+6c730e1a94dc88e60e4ab701190e98f7e867f92b	To test this hypothesis we investigated the immunoreactivity of normal/reactive MCs in 12 lymph node and @PHENOTYPICFEATURE$ specimens and neoplastic MCs in 27 tissue samples from patients with various types of mastocytosis (@DISEASE$, n = 13; cutaneous mastocytoma, n = 4; systemic mastocytosis, n = 6; and malignant mastocytosis, n = 4) with a panel of eight antibodies that stain macrophages or immune accessory cells and are reactive on routinely processed (paraffin-embedded, formalin-fixed) tissue.	false
+5d3afd5466b51619807028f85495744d5ea2a3dc	A review of literature has been presented including current data on bone marrow genesis functional role of mast cells in the human body, as well as characteristics of the main clinical variants of mastocyte @PHENOTYPICFEATURE$ proliferations (solitary mastocytoma, @DISEASE$, generalized mastocytosis).	false
+09c918aa929f4a13071013aa5d45e3ae8552a77c	[@DISEASE$ in @PHENOTYPICFEATURE$].	false
+191dbcd840175e516f17b9a3babde51f6f1a8ced	Congenital multiple giant mast cell @PHENOTYPICFEATURE$ with @DISEASE$: malabsorption: first reported case.	false
+c19c5e2eb9f743f48cc30343f797e55d570fee31	The patient showed practically all the diverse forms of cutaneous mastocytosis: @DISEASE$, papular, nodular, @PHENOTYPICFEATURE$-like melanoma, vesiculobullous, erythrodermic, telangiectasia eruptiva maculosa perstans.	false
+75384a4164fcc2f164f76c7eb173032b8866b580	Of these, failure to thrive, photosensitivity, and intellectual disability (language delays) developed before 2 or 3 years of age, whereas @PHENOTYPICFEATURE$, sunken eyes, and @DISEASE$ on CT occurred later.	false
+069d232251b269ad1e8faa5bb782c41e522b9d7b	Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, @DISEASE$, and an @PHENOTYPICFEATURE$ disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome.	false
+7865e099ad6598ced94fb66ffdbba4e1b6659f41	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, @DISEASE$, and @PHENOTYPICFEATURE$ familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC.	false
+4de58d8f8e863445c083f9daf6f72458ce8f91a7	We report the case of a 13-year-old boy, affected by type Ib PHP revealed by @PHENOTYPICFEATURE$ and seizures, with @DISEASE$ on the CT scan.	false
+c206caa09312914a077546daf139a76abf7d34be	Arrhythmic @DISEASE$ or appropriate ICD intervention for ventricular tachycardia or @PHENOTYPICFEATURE$.	false
+42e8da059c9fb1d07e4245827e32cf981936269e	Various modifiable and nonmodifiable risk factors, such as abdominal obesity, are known to affect the development of atherosclerotic cardiovascular disease and subsequent @PHENOTYPICFEATURE$ (@DISEASE$).	false
+42b8d1ca49ac186fc5785d97d9647e82a0dd68e7	Only implantable cardioverter defibrillators (ICD) have been proven to prevent @PHENOTYPICFEATURE$ (@DISEASE$) in patients with Brugada syndrome (BrS).	false
+555f361f9568621f869ffaab74a8050edfd475cd	The aim of this study was to determine characteristics of patients with sudden cardiac arrest (SCA) and/or @PHENOTYPICFEATURE$ (@DISEASE$).	false
+723018a4f026cd655e8781c4c65fbcdb55854cfe	The aim of this study was to determine characteristics of patients with @PHENOTYPICFEATURE$ (SCA) and/or sudden cardiac death (@DISEASE$).	false
+3731738cfe18da23cdb073b3dfd719d320d4869e	The incidence and cause of @PHENOTYPICFEATURE$ (@DISEASE$) in athletes is debated with hypertrophic cardiomyopathy often reported as the most common cause.	false
+62709ee306ec051843b0ecc3674c99edcdbd0f2a	Conflicts in marriage have been associated with potential risk of cardiovascular disease; however, there is lack of prospective evidence on the association between marriage satisfaction and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+19eec547bf4160492853dbe7635f21a240f898ff	Moreover, HCM is the leading cause of @PHENOTYPICFEATURE$ (@DISEASE$) in young athletes.	false
+dc9f67e8336c8e34f220b529aa540f780fa3a7db	It is therefore crucial to identify @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7674a104c03bbd2fa361c6de5a361b6a813cd111	Sudden cardiac death (@DISEASE$) is usually due to monomorphic ventricular tachycardia and/or @PHENOTYPICFEATURE$.	false
+9c2ba8464eb67d0a068da1fcb57254bf117d8ba6	Sudden cardiac death (@DISEASE$) accounts for approximately one-third of all deaths in patients with heart failure, and is generally the result of ventricular tachycardia (VT) and/or @PHENOTYPICFEATURE$ (VF).	false
+039e52e2472ace8b1a912e545d8427130b4c0a08	Sudden cardiac death (@DISEASE$) accounts for approximately one-third of all deaths in patients with @PHENOTYPICFEATURE$, and is generally the result of ventricular tachycardia (VT) and/or ventricular fibrillation (VF).	false
+35907b875254d49501650345d4ad80515b0f0b67	The patients were classified into seven phenotypes: myopathy, chronic progressive external ophthalmoplegia, progressive ophthalmoplegia plus ataxia, @DISEASE$, mitochondrial encephalomyopathy with lactic acidosis and stroke episodes (MELAS), myoclonic @PHENOTYPICFEATURE$ with ragged-red fibers (MERRF), and encephalopathies.	false
+00a7fcd92938cdda6c3b4262724db9e388504501	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+13777da287b19457662755931a0682ad19e93e7d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: @DISEASE$; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+5f91bc9fe1cac78067373c37671826b6aa56aa2e	There are a few distinctive syndromes, such as the @DISEASE$; myoclonus epilepsy with ragged-red fibers; and mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes.	false
+8c2c0ee802f97e112b3c82b95990dd7817dd2398	In the opposite, patterns were strikingly abnormal in all the other cell cultures from patients with defects in enzymatic complexes involved in oxidative phosphorylation: mitochondrial complex II and III deficiencies, two MELAS syndromes (myopathy, @PHENOTYPICFEATURE$, lactic acidosis and stroke like episodes), a case of @DISEASE$ and a case of chronic progressive external ophthalmoplegia.	false
+f9ef38fe09628bfd9fd43fef2812bb343fc01233	The disease may be subdivided into three main syndromes: @DISEASE$ (KKS), "myoclonus epilepsy with ragged red fibers syndrome" (MERRF), and "mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis and strokelike episodes syndrome" (MELAS).	false
+acdb4469db936c0fff244e07c27657fcf3e3b20b	The expression of nuclear and mitochondrial oxidative phosphorylation (OXPHOS) genes was examined in the skeletal muscle of patients with @DISEASE$ (KSS), myoclonic epilepsy associated with ragged red fibers (MERRF), and myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke-like episodes (MELAS) and compared with controls.	false
+30799b1540fe2848ea99eab42f47366fc333838c	We studied mitochondrial mutations and cardiac changes in 17 patients with @DISEASE$; ocular myopathy; myoclonus epilepsy with ragged red fibers (MERRF); and mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes (MELAS).	false
+f4d410a1a72dd218ccf26ef20c1d41bf0a763fff	The pattern of signs and symptoms enables subclassification into three main syndromes (10): The @DISEASE$ (KSS), "myoclonus epilepsy with ragged red fibres syndrome" (MERRF) and "mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis and strokelike episodes syndrome" (MELAS).	false
+ebd5ae8622ba9d3442dc1187dc44cf6b191ff003	The following syndromes are described: chronic progressive external ophthalmoplegia (CPEO), @DISEASE$ (KSS), MERRF syndrome (myoclonic epilepsy with ragged-red fibers), MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes) and Leigh and Alpers syndromes.	false
+2e176768cf9502a329071a666da0cc2b9a97e7aa	Analysis of muscle mitochondrial DNA (mtDNA) revealed a 2,532-bp deletion of the type seen in @DISEASE$ as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes (MELAS).	false
+09959a193363898740145dd36d1f961ef3a47c2e	Patients with @DISEASE$ commonly present to the orthopaedic surgeon with cervical malformations, spinal and @PHENOTYPICFEATURE$, and findings in the craniofacial and cutaneous systems.	false
+b522f81a6317ddca23bd00e81f12c17f854d57a4	This syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, @PHENOTYPICFEATURE$, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-@DISEASE$) and a particular cleft ear lobule.	false
+798e452e769a4d9473ff16d9184d56da8336940e	Patients with @DISEASE$ can accumulate intraretinal @PHENOTYPICFEATURE$ in the macula, which may respond to carbonic anhydrase therapy.	false
+465061eceac7b015d431655b1d2a11449cc35c8d	To examine associations between pain, functional outcomes, and @PHENOTYPICFEATURE$ in children with chronic pain, specifically juvenile idiopathic arthritis (JIA), sickle cell disease (@DISEASE$), and headache (HA).	false
+69b2bfae5a6daecac7db85b472f3e340db7f1be5	The aim of this study is to determine the peripheral nerve involvement electrophysiologically in @DISEASE$ patients without clinically evident neurological signs, symptoms and to determine the relationship between the frequency of sickle cell crisis and @PHENOTYPICFEATURE$.	false
+832f992a3706701b1e2c8fc6e880b9cf77ac6406	About 1 in 4 of all homozygous older @DISEASE$ patients had priapism, and an approximately similar ratio developed @PHENOTYPICFEATURE$; they also had lower steady-state leucocyte counts.	false
+638db06dd406f76cea956220144ec518ad96f060	Controlling for human migration, the distribution of prevalence and severity of @DISEASE$ tend to correspond with the degree of pigmentation of skin color on global map with areas of hyperpigmentation having the likelihood of higher prevalence and severity, while areas of @PHENOTYPICFEATURE$ are characterized by the reverse.	false
+8940f2d44c0535c37fcf03f9e7581b01e2963563	Parents of 329 children with chronic conditions including cancer, epilepsy, recurrent headache, inflammatory bowel disease (IBD), juvenile rheumatoid arthritis (JRA), sickle cell disease (@DISEASE$), and recurrent @PHENOTYPICFEATURE$ and 332 physically healthy children completed CHQ-PF-50.	false
+e2ef1d1ab8f2cd68eb832c36a7384da88e8a5dfa	These data are the first to characterize Berkeley @DISEASE$ mice as a naturally occurring model of @PHENOTYPICFEATURE$.	false
+62bc4045df21fb20770b4b8d0c4e27a534433259	In recent years, several unclassified cases of @DISEASE$ with amyotrophy had been reported, which had multi-system degeneration involving @PHENOTYPICFEATURE$.	false
+8bc405bd3f3e5066a44cade2685ffa92cb134311	Oculocutaneous @PHENOTYPICFEATURE$ (OCA) which is characterized by hypomelanosis is an inherited autosomal recessive disorder like @DISEASE$.	false
+6216a31f2190260c84d1ee599e760148796ca612	Among patients with scar (n?= 125, 57.6%), those with implantable cardioverter-defibrillator (ICD) therapies or @DISEASE$ exhibited greater scar mass (38.7 ? 34.2 g vs. 17.9 ? 17.2 g; p?< 0.001), @PHENOTYPICFEATURE$ heterogeneity (BZ mass/scar mass ratio) (49.5 ? 13.0 vs. 40.1 ? 21.7; p?= 0.044), and BZ channel mass (3.6 ? 3.0 g vs. 1.8 ? 3.4 g; p?= 0.018).	false
+c29265f91cbbf2dcdb5923415334a814b80136d4	Factors associated with RD were herbal medication use (p?=?0.007), history of sore throat or @PHENOTYPICFEATURE$ (p?=?0.024), sickle cell disease (@DISEASE$) (p?=?0.006), dehydration (p?=?0.001), malaria (p?=?0.01) and proteinuria (p?=?<?0.001).	false
+5371fb8308ecc3d9115f9ad8419fa20f80035c1e	These include interstitial cystitis and pelvic pain that was attributed to endometriosis, gastrointestinal pain including esophagitis and gastroparesis, headaches, @PHENOTYPICFEATURE$, fibromyalgia, and @DISEASE$.	false
+6e1de973a356cb8f99d36d7c7c62da993d42a69f	[@DISEASE$, bilatal thenar @PHENOTYPICFEATURE$, proteinuria, shortness of breath, increase in blood sedimentation rate, hypotension and IgG monoclonal gammopathy: (amyloidosis and plasmacytoma)].	false
+2c4f7a5a818622d5be6c05aaca565b53fa9a52bf	[@DISEASE$ and hand @PHENOTYPICFEATURE$ in temporal arteritis].	false
+b0704d98a79c3451e5800d436900f3fb11549957	Patients maintained on haemodialysis or continuous ambulatory peritoneal dialysis for long develop amyloid deposits composed of beta 2 microglobulin that are predominantly osteoarticular, associated with @DISEASE$, large-@PHENOTYPICFEATURE$, stiffness and pathological fractures.	false
+d32e533a5c798c008209084179cd51ac0d287a0b	@DISEASE$ was the most common upper-limb neuropathy (34%); sciatic neuropathy was the most common lower-@PHENOTYPICFEATURE$ (8.5%).	false
+8705275ef4e14524bae728aea93eac253f1dad4c	Clinical features included macroglossia, restrictive cardiomyopathy, cutaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+18d115e1f973d82d83290222734a1ca467c69886	Other manifestations of RA such as intraosseous cysts, tenosynovitis, bone marrow @PHENOTYPICFEATURE$, and @DISEASE$ can also be visualized on magnetic resonance images.	false
+ae9b4cb6631f79eb3b59156df51e2ddf0f018e4f	Hemodiafiltration (HDF) is associated with a lower incidence of neuropathy, @DISEASE$, @PHENOTYPICFEATURE$, and partial correction of anemia.	false
+2a2f5133defd049e64364a5275cef348a1f94867	[Pregnancy @PHENOTYPICFEATURE$ as a cause of @DISEASE$].	false
+c55f48736c752247cb80247cdb8c8bf20aa68c23	Recently published data have given strong support to several of the claims for major benefits of disease prevention, including that of cancer, cardiovascular disease, @DISEASE$, and @PHENOTYPICFEATURE$, to name just a few.	false
+7aabc43f0fd6e77061d26561765cc0b92c5bdf61	Many risk factors for @DISEASE$ have been identified, such as glomerular hyper-filtration, delayed graft function, repeated acute rejection, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+f50f68ddc644310b4a71cef5420fcc070e0b7823	Introduction of MMF in patients with @DISEASE$ (CAN) followed by CNI withdrawal resulted in stabilization or improvement of renal function and @PHENOTYPICFEATURE$ profile, although there is some risk of acute rejection.	false
+83a71a07762c863140c563aeb4efd5bad2528e2d	The diagnosis of @DISEASE$ was made, a rare progeroid syndrome associated with characteristic ocular, facial, skeletal, dermatologic, and @PHENOTYPICFEATURE$.	false
+a79ccdedece47d1b6326c652f3f959ece251a042	@DISEASE$: a new condition comprising absent patellae, scrotal hypoplasia, @PHENOTYPICFEATURE$, facial dysmorphism, and mental retardation.	false
+b85b742e336ec981b1d5a057af903fd324d7ebfe	@DISEASE$ is a recently described disorder with characteristic facies, @PHENOTYPICFEATURE$, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation.	false
+9ceaa6e7c0e239c0ea6aa1e25642431b388f0b05	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, @PHENOTYPICFEATURE$, microcephaly, renal anomalies, and mental retardation.	false
+3877dd250f7ffe7bbc1042d407c96bee11cfedbc	@DISEASE$ is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, @PHENOTYPICFEATURE$, and mental retardation.	false
+a40d68779cbcf3c74c0e52f1f2f3e6940d5dee82	@DISEASE$ (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external @PHENOTYPICFEATURE$ and severe intellectual disability.	false
+077f2bab350e7f73862ffc34ee8efb10cd9b447a	@DISEASE$ (GPS) is a @PHENOTYPICFEATURE$ with cerebral and genital anomalies for which the molecular basis has not yet been determined.	false
+3582689301157a79edfaa2e9d86dc47e31999ad8	@DISEASE$, sensorineural hearing loss, and @PHENOTYPICFEATURE$.	false
+4cb2d36f11393ec5a1215fa6d73bb72bd1e1b6f8	@DISEASE$ (GPS) is a rare disorder with characteristic craniofacial features, congenital @PHENOTYPICFEATURE$ of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation.	false
+0be6bbb07eae7431a145d46d371d5f1e0e21eb74	@DISEASE$ is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity @PHENOTYPICFEATURE$, urogenital anomalies, dysmorphic features, skeletal anomalies, and agenesis of the corpus callosum.	false
+c302b957a1c83f8994c4bc4d06f101bc2f43dbc7	Hyponatraemia presenting as reversible @PHENOTYPICFEATURE$ in @DISEASE$.	false
+564b5a98ca87c4389a285f7b2a5cffe225b2e914	Potential mechanisms for the neuropsychiatric symptoms of @DISEASE$ include electrophysiological, electrolyte and metabolic abnormalities, glucocorticoid deficiency, increased endorphins, and an associated Hashimoto @PHENOTYPICFEATURE$.	false
+7cbe67c9894ab9e5a3df3bfbf9d821d5dac26b0b	He was a 29-year-old @PHENOTYPICFEATURE$ man, who began to complain of slowly progressive gait ataxia after an 8-year history of @DISEASE$.	false
+33516e9ee900799fae7774d8f7061b2a88de58a6	Self-injury/self-mutilation behaviors often are associated with organic conditions, such as @PHENOTYPICFEATURE$, encephalitis, Lesch-Nyhan disease, de Lange syndrome, Tourette's syndrome, acute intoxication, @DISEASE$, and various behavioral and personality disorders.	false
+5707e6625424efe185ce5ebeabdd5cd47725911b	[A case of @PHENOTYPICFEATURE$ associated with @DISEASE$].	false
+58ab27ee29e39ce8b60652f94203d3fc4e2839dc	We herein report a 5-year-old boy who developed unexpected agranulocytosis with fever approximately one week after recovering from the typical symptoms of @DISEASE$, characterized by fever, rash, lymphadenopathy, and hepatitis, but lacking @PHENOTYPICFEATURE$ or lymphocytosis.	false
+7229c5edf566a13a034e0f03c4232061bc2a72d8	Early vitrectomy and intravitreal injection of vancomycin may improve visual outcomes, but infection with @DISEASE$ may be associated with @PHENOTYPICFEATURE$ surgery wound failure and poor visual outcomes.	false
+af8f307f269e21d29f775356168d0919e5eaa658	Early vitrectomy and intravitreal injection of vancomycin may improve visual outcomes, but infection with @DISEASE$ may be associated with cataract surgery wound failure and @PHENOTYPICFEATURE$ outcomes.	false
+05dbf0e77f067e5a9e39711a49a87a4617a3f639	@DISEASE$ infection appeared to be associated with wound failure from the initial cataract surgery and a @PHENOTYPICFEATURE$ outcome.	false
+8142b1e45503a3fbf33efcd78fe91a5353d52263	Hypoxemia measurements were compared between sleepy (ESSS ? 10) and nonsleepy (ESSS<10) patients before and after dichotomizing the cohort for each @PHENOTYPICFEATURE$ variable (and for @DISEASE$) such that there were 35 (165) patients in each of the corresponding higher (lower) subcohorts.	false
+0933fd6d86709e297126df8713c8aa35eeb8101a	Hemorrhagic complications of optic pathway diseases are extremely rare causes of acute @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+fa47d2e9e32666e8a0e33cff8b63cbe95d36b7e2	Although spontaneous visual recovery is possible, optic neuropathy associated with @DISEASE$ may result in severe and permanent @PHENOTYPICFEATURE$.	false
+e855c0f411ece1e2096e924160bdbe6fd2cc41f5	Severe permanent @PHENOTYPICFEATURE$ occurred in a patient with @DISEASE$.	false
+2096a7ee261a0820d64866238b60bae7ab97df4b	The purpose of this study is to report changes in the eye captured using fluorescein angiography, indocyanine green, and OCT in 3 cases of @DISEASE$ @PHENOTYPICFEATURE$ associated with consistent visual symptoms and similar retinochoroidopathic changes.	false
+d4e245ad88571a432cb39d1714cbc04ed92dd16d	Bilateral acute @PHENOTYPICFEATURE$ from Rathke's cleft cyst apoplexy in a patient with @DISEASE$.	false
+abbb16e497856d328cc84dbbcac44a328b738e73	Ocular complications associated with @DISEASE$ are rare but may result in permanent @PHENOTYPICFEATURE$.	false
+abbb16e497856d328cc84dbbcac44a328b738e73	Ocular complications associated with @DISEASE$ are rare but may result in permanent @PHENOTYPICFEATURE$.	false
+1b3de750dc85b41fdae9e7ea9f12110679021b92	Classic AMN may be associated with @PHENOTYPICFEATURE$, @DISEASE$, ulcerative colitis and chronic kidney disease, probably as a result of chorioretinal hypoxia in the setting of thrombocytopenia and anaemia.	false
+c1bfe28a19e35a78eeee1a5f345801fa0dade7e9	The authors report the first documented case of a patient with @DISEASE$ who developed central retinal artery occlusion in addition to many other eye complications such as severe @PHENOTYPICFEATURE$ and complete internal and external ophthalmoplegia during her convalescent phase.	false
+7175ed8f31ae6b5a9d2fb7d306b9f3d18623ec56	Follow-up examination of individuals with @DISEASE$ and associated @PHENOTYPICFEATURE$ should involve the use of OCT to evaluate visual acuity and visual field changes in patients with acute choroidal ischemia.	false
+1bf0fca2cc3e65b02e64a038e67b724ad3a2f91b	Tenosynovitis found in 17%, @DISEASE$ (PVNS) in 3%, Achilles tendon abnormality in 8%, stress fracture-9%, osteomyelitis-8%, soft tissue vascular malformation in 5%, soft tissue and bone tumor-4%, marrow @PHENOTYPICFEATURE$-20%, osteoarthritis-10%, Osteochondral lesion of talus-8%, sinus tarsi syndrome-3%, posterior impingement-5%, plantar fasciitis-2%, Sever disease-2%, peroneus tendon split-2%.	false
+d996189d240258615615d5af263a3f4e57b21c2e	@DISEASE$ is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations,with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+d36767a85b0e49ccd64ad44efa11ce81232c12f1	@DISEASE$ is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and @PHENOTYPICFEATURE$ in neuroimaging studies.	false
+983f893b3e9bdec36fdb4bef83eba14556f0f56b	While excessive production of IL-1? and systemic inflammation are common to all cryopyrinopathy disorders, @PHENOTYPICFEATURE$, prominently in the knees, and low bone mass are unique features of patients with @DISEASE$.	false
+1ff658b040c62389f1373f03d9c2393238ddcd6e	[Description of a case of hyperkinetic @PHENOTYPICFEATURE$ in neonatal onset multisystem inflammatory disease or @DISEASE$].	false
+1a8cec255f90fb72a531e3a8f196a5315dd789d7	[Description of a case of hyperkinetic @PHENOTYPICFEATURE$ in @DISEASE$ or chronic infantile neurologic cutaneous and articular syndrome].	false
+a4204377bda435369ec737fdbf5c6e107afaeb30	@DISEASE$ is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and @PHENOTYPICFEATURE$ without facial dysmorphism or visceral organomegaly.	false
+0dad3b44726cf19d4a6db8fb3852f213fad90fc9	The triad of @PHENOTYPICFEATURE$, generalized seizures, and @DISEASE$ neonatal diabetes should prompt screening for mutations in IER3IP1.	false
+3bc897436bba98220286de729676b9a92223b581	@DISEASE$ @PHENOTYPICFEATURE$ in dog lung depleted of blood components.	false
+609faa017c368e93c1af07f915877b8f50677aaf	Segmental pulmonary vascular resistance in progressive hydrostatic and @DISEASE$ @PHENOTYPICFEATURE$.	false
+6edff407171f75926a7db47c49c90d656b7f609a	This resulted in @DISEASE$ @PHENOTYPICFEATURE$ and an arterial thrill in the neophallus.	false
+16401b3811e539d90b04e7d00b798a193a0face3	Results in re-expansion @PHENOTYPICFEATURE$ were compared with normal control lungs and with oleic acid edema as a model of @DISEASE$ edema.	false
+ea96074d5806f3ee8b1f1421b6a911f2e0d72e71	Results in re-expansion edema were compared with normal control lungs and with oleic acid edema as a model of @DISEASE$ @PHENOTYPICFEATURE$.	false
+35dae14efebaca0c48fd89d11b6165b275fd220c	Results in re-expansion edema were compared with normal control lungs and with oleic acid @PHENOTYPICFEATURE$ as a model of @DISEASE$ edema.	false
+1fafa20fa6494e107d3ef00470c7dc7ce91493dc	Thus, a reasonable classification of lung edema requires at least four categories: 1) hydrostatic edema; 2) acute respiratory distress syndrome (@DISEASE$ @PHENOTYPICFEATURE$ caused by diffuse alveolar damage); 3) permeability edema without alveolar damage; and (4) mixed hydrostatic and permeability edema.	false
+4f391fb1bd6fb6c6d4a693f5fb602d01afc31793	Thus, a reasonable classification of lung edema requires at least four categories: 1) hydrostatic @PHENOTYPICFEATURE$; 2) acute respiratory distress syndrome (@DISEASE$ edema caused by diffuse alveolar damage); 3) permeability edema without alveolar damage; and (4) mixed hydrostatic and permeability edema.	false
+5828bc22780021479de7f2207d947ef4379868e5	Thus, a reasonable classification of lung edema requires at least four categories: 1) hydrostatic edema; 2) acute respiratory distress syndrome (@DISEASE$ edema caused by diffuse alveolar damage); 3) permeability edema without alveolar damage; and (4) mixed hydrostatic and permeability @PHENOTYPICFEATURE$.	false
+620eec7d1e5634df68ba6762c96c3badc93ec8d6	Thus, a reasonable classification of lung edema requires at least four categories: 1) hydrostatic @PHENOTYPICFEATURE$; 2) acute respiratory distress syndrome (permeability edema caused by diffuse alveolar damage); 3) permeability edema without alveolar damage; and (4) mixed hydrostatic and @DISEASE$ edema.	false
+cace30021ed79b3f8a7b4f04b53c3f649e82d8da	Thus, a reasonable classification of lung edema requires at least four categories: 1) hydrostatic edema; 2) acute respiratory distress syndrome (permeability @PHENOTYPICFEATURE$ caused by diffuse alveolar damage); 3) permeability edema without alveolar damage; and (4) mixed hydrostatic and @DISEASE$ edema.	false
+cdc0907bebe72bc8c0ae64a3ff8962a533dbc478	Thus, a reasonable classification of lung edema requires at least four categories: 1) hydrostatic edema; 2) acute respiratory distress syndrome (permeability edema caused by diffuse alveolar damage); 3) permeability edema without alveolar damage; and (4) mixed hydrostatic and @DISEASE$ @PHENOTYPICFEATURE$.	false
+328615966558022f7d11096c78d74080ddcad3fb	Hydrostatic edema (HE) was induced by raising the venous pressure, and @DISEASE$ @PHENOTYPICFEATURE$ (PE) was induced with alpha-naphthylthiourea.	false
+782d91953c9cfe0c3a89d1a3212d9dbfd60b7b33	Hydrostatic @PHENOTYPICFEATURE$ (HE) was induced by raising the venous pressure, and @DISEASE$ edema (PE) was induced with alpha-naphthylthiourea.	false
+b79b3a35c76200653bd743b16c2914224392986b	Vasoactive drugs may increase intrapulmonary shunt in patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+256c73531ea7deb7510bf9f7785392d4584c6b2b	Disabling headache, transient, progressive, and @DISEASE$ neurological deficit, heart failure, hydrocephalus, @PHENOTYPICFEATURE$, and intellectual impairment may also occur.	false
+29e5e74f41dea8e5ce9620b0c69c8b6c743da459	Renal/overhydration patients had enlarged hearts significantly more often than patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+f2c9a5c0bb74b6a5e3546544cf535b8e3045fa08	Along with bone and tooth symptoms, many neurological symptoms, seizure, encephalopathy, intracranial hypertension, mental retardation, @PHENOTYPICFEATURE$, and growth hormone deficiency (GHD), are frequently found in @DISEASE$ patients.	false
+7a1fcf49ef70f79ec255419592a79886c16d5f5a	It also covers osteopetrosis, @DISEASE$, pseudohypoparathyroidism (with Albright's hereditary osteodystrophy), familial benign hypercalcaemia, autosomal dominant @PHENOTYPICFEATURE$ and the molecular causes of some chondrodysplasias.	false
+404f88db14ea279e65785cfd8195fb2574dc53db	It is concluded that there is good evidence to associate @DISEASE$, @PHENOTYPICFEATURE$, and hyperparathyroidism with chondrocalcinosis and acute attacks of "pseudogout."	false
+88487e4684a7830b73a99a1db0e9223ee5828af0	If young people develop CPPD crystal deposition disease, it may be associated with metabolic diseases such as hemochromatosis, hyperparathyroidism, @DISEASE$, @PHENOTYPICFEATURE$, Wilson's disease, hypothyroidism, gout, acromegaly, and X-linked hypophosphatemic rickets.	false
+f9571c574ddefe544858fa5bbfcd87693d510ddd	The therapy is symptom oriented or disease specific in case of an underlying metabolic disease such as hemochromatosis, hyperparathyroidism, @DISEASE$, @PHENOTYPICFEATURE$ or hypothyroidism.	false
+db917cb15e1113d0290fa8e34497e23e699b5a7f	The RO etiology is uncertain; numerous factors have been suggested and considered as local trauma, irradiation, @DISEASE$, @PHENOTYPICFEATURE$, hyperpyrexia.	false
+db917cb15e1113d0290fa8e34497e23e699b5a7f	The RO etiology is uncertain; numerous factors have been suggested and considered as local trauma, irradiation, @DISEASE$, @PHENOTYPICFEATURE$, hyperpyrexia.	false
+a8bacc514bc160aabddeab6b4cfe97885fdd719f	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and @DISEASE$), and bone resorption (Gorham-Stout disease).	false
+f4198ea45cc44ea3f149be5685440cad13e49117	Mental retardation, @PHENOTYPICFEATURE$ and GHD are more frequently found in Japanese @DISEASE$ patients.	false
+9c676ae3e2a2c0a9bda631a36ffa9c034345aaef	Rubinstein-Taybi syndrome (@DISEASE$) is a rare developmental disorder comprising of mental retardation, @PHENOTYPICFEATURE$, broad thumbs, and big toes.	false
+5ff845871260ed927e77f4e81e99d76fe56a2078	Rubinstein-Taybi syndrome (@DISEASE$) is a rare congenital disorder characterized by broad thumbs and halluces, @PHENOTYPICFEATURE$, mental retardation, and short stature.	false
+facd5abc344939fcb34c969f1eb5d9de28b125b2	We report two new cases of @DISEASE$ which emphasize the less well-known non-dermatological complications, namely: @PHENOTYPICFEATURE$, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma.	false
+f6d0905b40f316e58371decfcf47dbd22a3fce84	Rubinstein-Taybi syndrome (@DISEASE$) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, @PHENOTYPICFEATURE$, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature.	false
+8cbabbddc72e6bc005d463f45fa53aba19ff43db	Any cardiac episodes which have been reported in patients with @DISEASE$, such as supra-ventricular or @PHENOTYPICFEATURE$, did not occur throughout the perioperative period.	false
+bf2b47b8ce132a62df3b1fb48574860e4127ea7a	Features included repeated regurgitation or rumination (99%), signs suggesting esophageal pain (49%, excessive crying "colic," @PHENOTYPICFEATURE$, Sutcliffe-@DISEASE$, respiratory symptoms 42%), failure to thrive (18%), and minor hematemesis (18%).	false
+b652f7568925a3880ead1ee4e6ff89fb1ac03e20	Age, diabetes @DISEASE$, @PHENOTYPICFEATURE$, peripheral vascular disease, diabetic peripheral neuropathy, previous DFU, and previous lower extremity amputation were associated with DFU occurrence.	false
+f69d6538c4751064ce37e9b8520088d78dcaa2eb	A critical analysis of the @DISEASE$ gives clues for the greater amount of @PHENOTYPICFEATURE$ found with xenon than argon in the DRS.	false
+66cfc4fbe594815e1f7198995405c9ee2f33ce5e	In patients with DM2, hyperglycemia and diabetes @DISEASE$ contribute to @PHENOTYPICFEATURE$.	false
+7ad00d6ab50494aa1cd25cdfaec0d4247daf52af	In the multivariate analysis, ESC abnormalities were associated with age, diabetes @DISEASE$, glycated hemoglobin levels, insulin therapy, and @PHENOTYPICFEATURE$.	false
+f69d6538c4751064ce37e9b8520088d78dcaa2eb	A critical analysis of the @DISEASE$ gives clues for the greater amount of @PHENOTYPICFEATURE$ found with xenon than argon in the DRS.	false
+c07acd00e7b1d14be07d4d59de3530f61ee5cbf7	[Effect of acute cerebral @PHENOTYPICFEATURE$, recurrent and of short @DISEASE$, on higher nervous activity in animals].	false
+cefad8e5c759220eae23aedf8c2fa5fc61e47044	The present case showed other abnormalities including the @DISEASE$, @PHENOTYPICFEATURE$ and ptosis of the transverse colon.	false
+353845de2d38e00975a55413193f2bf9ddce3e9c	There was no correlation among age, chronic renal failure @DISEASE$, HD frequency, @PHENOTYPICFEATURE$, systolic or diastolic blood pressure drop, and PrHDSc or PoHDSc.	false
+dc32f7e7679575c82ce81215f64e8e23ab1f8f73	Patients with secondary achalasia presented with dysphagia of short @DISEASE$ and marked @PHENOTYPICFEATURE$; mean age was 64 years.	false
+21978b64ada5c8cdeaecca3a5b07ae785152204f	@DISEASE$ has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, @PHENOTYPICFEATURE$, choroidal coloboma, microphthalmia, and optic nerve dysplasia.	false
+5f13d6a850cd8f4d00d080c831e8f1fc0bf9d388	@DISEASE$ has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, cataract, choroidal coloboma, @PHENOTYPICFEATURE$, and optic nerve dysplasia.	false
+1519fce5c7349f3666f4922464fe48db1dcbb8da	Mental retardation, @PHENOTYPICFEATURE$, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-@DISEASE$.	false
+2ea00531903a480c19addeda7b479a6f993beb30	In this report, we describe a family with @DISEASE$ caused by a novel CDH3 gene mutation and review the mutation spectrum and @PHENOTYPICFEATURE$ in both EEM and HJMD.	false
+aa3f5a062807bbaddb760cec0e304c5037536391	@PHENOTYPICFEATURE$ or reduced transport of CSF gamma-trace microprotein in @DISEASE$.	false
+aceb8dc38ac5d7eb324faaed74b1e4aa9026eb06	@DISEASE$ (DPN) is a benign epithelial @PHENOTYPICFEATURE$, common in the black population.	false
+2b86a39580115afaea49f11925209d52355684fd	Acute @DISEASE$ crystal arthritis is characterized by sudden onset of pain, swelling and tenderness with overlying @PHENOTYPICFEATURE$, usually in a large joint, most often the knee, wrist, shoulder, and hip.	false
+ecac6ebde9b1ed1b07ba2ff57d48a19378a005b0	Differential rescue of the renal and hepatic disease in an @DISEASE$ mouse @PHENOTYPICFEATURE$.	false
+a22938072d10e38cee4361b42ff8e012096e67ee	Multifocal dysembryoplastic neuroepithelial @PHENOTYPICFEATURE$ in a male with the @DISEASE$.	false
+d45ea47ce02cca66cbe52936144e3844a5e6408d	These include dialysis access, severe @DISEASE$, inadequate or excessive erythropoietin production, @PHENOTYPICFEATURE$, viral hepatitis, defects of urinary tract and malnutrition.	false
+362ed48e96d43026a74224d4092c322d59e36560	These include dialysis access, severe @DISEASE$, inadequate or excessive erythropoietin production, heart failure, @PHENOTYPICFEATURE$, defects of urinary tract and malnutrition.	false
+d94ca9149d453bb339b1a1bacd0d216bfa705322	@PHENOTYPICFEATURE$ and @DISEASE$ in incident chronic kidney disease patients.	false
+cd37c338c1f6d59005290b57bc4565d8cefea043	Some of the key abnormalities are @DISEASE$, @PHENOTYPICFEATURE$, hypocalcemia, and metabolic acidosis.	false
+19cf7711f9d23a208f32a703183a873b6a2d0e6c	Some of the key abnormalities are @DISEASE$, hyperphosphatemia, @PHENOTYPICFEATURE$, and metabolic acidosis.	false
+19feebb0e8a4b2374d77be4bee46ce803ee989c3	@DISEASE$ crisis is an emergency form of multiple electrolyte abnormalities that manifest as a life-threatening hypercalcemia and simultaneous @PHENOTYPICFEATURE$ and hypomagnesemia; these two later are believed to be caused by diuretic effect of calcium on the renal tubules.	false
+153b28f9fc1a1d07c7fd3d3e516a2d09e179c545	@DISEASE$ crisis is an emergency form of multiple electrolyte abnormalities that manifest as a life-threatening hypercalcemia and simultaneous hypokalemia and @PHENOTYPICFEATURE$; these two later are believed to be caused by diuretic effect of calcium on the renal tubules.	false
+99e96a16a113561663c6d6ce298b12270ced4bf8	@DISEASE$ during pregnancy and neonatal @PHENOTYPICFEATURE$.	false
+8121efd37cd516d7f7f44716460594a00a00fc27	The corrected Cockcroft-Gault, the MDRD, and the CKD-EPI equations were well correlated with all CKD-specific complications including hypertension, anemia, hyperkalemia, metabolic acidosis, hypocalcemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7923ce846437572ba2e0c991614f2c1ce2f84c62	The corrected Cockcroft-Gault, the MDRD, and the CKD-EPI equations were well correlated with all CKD-specific complications including hypertension, anemia, hyperkalemia, metabolic acidosis, @PHENOTYPICFEATURE$, hyperphosphatemia, and @DISEASE$.	false
+9b02c791a432eb14147fc1fd14462c8a884ecccd	None of the newborns had craniotabes, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+c30c45e503354e7f58fee49035c2cc31a3f99a89	@DISEASE$ is seen as a recurring cycle of renal damage-hyperphosphatemia-@PHENOTYPICFEATURE$-parathyroid stimulation-mobilization of bone calcium and phosphate-renal tubular phosphate rejection.	false
+b2c632638bf68c2b1685dcca4e43903d3ed6c53f	@DISEASE$ is seen as a recurring cycle of renal damage-@PHENOTYPICFEATURE$-hypocalcemia-parathyroid stimulation-mobilization of bone calcium and phosphate-renal tubular phosphate rejection.	false
+ba38d72ee09a9291fe88066e4562c88f2a6d6e76	There was a correlation between CRI and several co-morbid clinical factors: low hematocrit, hypoalbuminemia, @PHENOTYPICFEATURE$, hyperphosphatemia, and @DISEASE$, and the rate of progression to ESRD.	false
+55b4f1c127ed9b3209753b8fb5de0de82c9bdaab	There was a correlation between CRI and several co-morbid clinical factors: low hematocrit, hypoalbuminemia, hypocalcemia, @PHENOTYPICFEATURE$, and @DISEASE$, and the rate of progression to ESRD.	false
+207d80891e71f75b11bcc47918b25793308f3eb6	Investigated comorbid conditions included diabetes, hypertension, high cholesterol level, coronary artery disease, congestive heart failure, cerebrovascular disease, peripheral vascular disease, and cancer, and CKD-related complications included anemia, hypocalcemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+09d01c6179788115b3c45d65b4745a1932a3c5b0	Investigated comorbid conditions included diabetes, hypertension, high cholesterol level, coronary artery disease, congestive heart failure, cerebrovascular disease, peripheral vascular disease, and cancer, and CKD-related complications included anemia, @PHENOTYPICFEATURE$, hyperphosphatemia, and @DISEASE$.	false
+ca105ef66d47a0186a3cc060c8596b27a4983cbc	Investigated comorbid conditions included diabetes, hypertension, high cholesterol level, coronary artery disease, @PHENOTYPICFEATURE$, cerebrovascular disease, peripheral vascular disease, and cancer, and CKD-related complications included anemia, hypocalcemia, hyperphosphatemia, and @DISEASE$.	false
+ffc33d0a2fb8c08095d0c61cc26ee0c639efe3af	@PHENOTYPICFEATURE$ in a follow-up study on carriers of @DISEASE$.	false
+7ccc8abd4bfe53d29537393f6c9668003e76826b	@PHENOTYPICFEATURE$ and skeletal muscle weakness in carriers of @DISEASE$ and controls.	false
+0a31f1fca438feb8977b7c0b4a69c8cbe0a61564	Dystrophinopathies (@DISEASE$) and mitochondrial disease are some of the most frequent clinical entities, and those developing @PHENOTYPICFEATURE$ more frequently.	false
+1a832d87ef653e93eb3433721e99579abe1eba8e	PATIENTS included 22 late-onset @DISEASE$ patients with progressive proximal @PHENOTYPICFEATURE$ and minimal respiratory involvement without other diseases affecting bone mass.	false
+ab3f728a245c19b3591d4d1adf249749e5dc0139	@DISEASE$ (GSD H) is an autosomal recessive @PHENOTYPICFEATURE$.	false
+d65ac745a3d859d301dc3f9cc5e6865f5501bb26	These findings provide evidence for a severe distal muscle involvement and a mild @PHENOTYPICFEATURE$ evolving during the course of disease after long-term enzyme replacement therapy, thereby expanding the new emerging phenotype of infantile onset @DISEASE$.	false
+f4458b758ad5b4ac4a3f15cfe3ff896d165bdadc	We have found multiple mitochondrial defects in mouse and human models of @DISEASE$, a life-threatening cardiac and skeletal muscle @PHENOTYPICFEATURE$: a profound dysregulation of Ca(2+) homeostasis, mitochondrial Ca(2+) overload, an increase in reactive oxygen species, a decrease in mitochondrial membrane potential, an increase in caspase-independent apoptosis, as well as a decreased oxygen consumption and ATP production of mitochondria.	false
+d17ebe47f28c4b38b554d5df7445108b5fc9383c	Severe distal muscle involvement and mild @PHENOTYPICFEATURE$ in a boy with infantile onset @DISEASE$ treated with enzyme replacement therapy for 6 years.	false
+d962652874870373a95030a77d2a0043c1f1c31c	To describe Okihiro syndrome, a syndrome consisting of Duane's syndrome, @DISEASE$ ray anomaly, and @PHENOTYPICFEATURE$.	false
+ea128b8b967496a6d4247c76d52def73f18da5a2	Limb malformations consisted of unilateral monodactyly with @DISEASE$ aplasia, unilateral split foot and bilateral @PHENOTYPICFEATURE$.	false
+d8108bab08c99f6019ef82fcfcf490bf2b9037a3	A girl with bilateral @DISEASE$ aplasia, severe deformity of both hands, club @PHENOTYPICFEATURE$ and mild anemia is described.	false
+63c1501c018de36df7c910402920a975dd9eba8d	Autosomal dominant asymmetrical @DISEASE$ dysplasia, dysmorphic facies, and @PHENOTYPICFEATURE$ (facioauriculoradial dysplasia).	false
+9e05537363f3405f9855bbe869fbbf5a2aa1beea	However, 44% had both Duane's syndrome and @DISEASE$ ray anomaly, whereas @PHENOTYPICFEATURE$ alone occurred in only 17% of patients.	false
+1d46fe9799ed6e7facc7574bce4a5ce84d8549a4	Associated orthopedic abnormalities included mainly spinal anomalies, @PHENOTYPICFEATURE$, congenital dislocation of the hip, Sprengel's deformity, and @DISEASE$ limb defects.	false
+d6e396249023d612037a82043431d014495119f5	Since some major features of the VACTERL association, including @PHENOTYPICFEATURE$, @DISEASE$ aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2	false
+6d0cc2030e3bcbd725a40f6299f621528f51217c	Nager syndrome or acrofacial dysostosis is a rare and complex malformation characterized by @PHENOTYPICFEATURE$, micrognathia, @DISEASE$ limb hypoplasia, and absence of the thumb or other fingers.	false
+6a1e515e58bc38d533bc705bc59d8c33be616659	The most common abnormalities associated with vertebral malformation were cranial nerve palsy, @DISEASE$ hypoplasia, @PHENOTYPICFEATURE$, dislocated hip, Sprengel's deformity, imperforate anus, hemifacial microsomia, and renal and cardiac anomalies.	false
+88be1aff3ca73a02792f52ecfd93d011aee4297c	Features of Fanconi anemia (FA) are well known, including bone marrow failure, congenital anomalies such as @DISEASE$ anomalies, renal and @PHENOTYPICFEATURE$, tracheo-esophageal fistula, imperforate anus, and elevated risk for cancer.	false
+e9d09a5a3dffa5737cd3d63c178e6a6a0938761c	One syndrome, found in 2 sibs of nonconsanguineous parents, included @PHENOTYPICFEATURE$, agencies of the corpus callosum, pterygium colli, cystic renal dysplasia (@DISEASE$) and postaxial polydactyly (PP).	false
+a25817a7f2ee23e3bb8fbd21e43ba21e9194466c	Three more autosomal recessively inherited syndromes had CRD (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and digital anomalies (without renal anomalies), and one further syndrome showed @DISEASE$ and @PHENOTYPICFEATURE$ (without cerebral defects).	false
+0eebf6d5a8ef0d8b9da56c60517df76af039c7f5	Three more autosomal recessively inherited syndromes had @DISEASE$ (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and digital anomalies (without renal anomalies), and one further syndrome showed CRD and @PHENOTYPICFEATURE$ (without cerebral defects).	false
+183a474226d180d70e5b1db78af032db68fb3956	Fabry-@DISEASE$ is an x-linked deficiency of lysosomal alpha-galactosidase A (GALA), resulting in chronic renal failure, @PHENOTYPICFEATURE$, hypertrophy, valvular disease, pain (acro-paraesthesiae) and stroke, together with premature mortality.	false
+8f07f1208856fc8b4508d6341a5dfdf0bb7f8f16	Lipoprotein disorders include abetalipoproteinemia, familial hypobetalipoproteinemia, @DISEASE$, and familial combined @PHENOTYPICFEATURE$.	false
+fc5de002a56cddf27567e7f70a4aa33137019a47	@DISEASE$ (JMC) is caused by a constitutively activating mutation of the parathyroid hormone (PTH)/PTH-related protein (PTHrP) receptor (PTHR1) and is characterized by widening of the metaphyses, reduction of long bone length, and @PHENOTYPICFEATURE$.	false
+17430e185b993f32a5a976ccaf0d82582a11469b	EVC belongs to the short rib-@PHENOTYPICFEATURE$ group (SRP) and these SRPs, especially type III (@DISEASE$), are discussed in the prenatal differential diagnosis.	false
+37f151bcee86252a9542208d73fa791d887e8a62	Short rib @PHENOTYPICFEATURE$ syndrome type 3 with absence of fibulae (@DISEASE$).	false
+8a35b4483510d4ad86b011d44d2f61c89419c934	In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-@PHENOTYPICFEATURE$ group (SRPs) that includes @DISEASE$ (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis-van Creveld syndrome (EVC), the Sensenbrenner syndrome, and, finally, Weyers acrofacial dysostosis.	false
+0b1861857d3e36413f2ba510f2e14d3c09421381	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib @PHENOTYPICFEATURE$ (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (@DISEASE$), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+2f17e0577a157e2df0d9a2d68fab6dd9ced7f5fa	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib @PHENOTYPICFEATURE$ (SRP) type III (@DISEASE$), and a case with polydactyly without other skeletal abnormalities but with visceral malformations.	false
+1cce823663cbad003a285961e01edeaddec49e97	The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (@DISEASE$), and a case with @PHENOTYPICFEATURE$ without other skeletal abnormalities but with visceral malformations.	false
+e9e4ce677d56a7820a32653db64292dcd5658019	Short-rib @PHENOTYPICFEATURE$ (SRP) syndrome type III, or @DISEASE$, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period.	false
+a083538dd5ed881421c2e9fa027c708a71be917f	Individuals bearing the mutation, whether they had experienced an episode of cortical @PHENOTYPICFEATURE$ or not, had joint hyperlaxity, hyperextensible skin, and inguinal hernias resembling symptoms of a mild form of @DISEASE$.	false
+aa440ac9a15d922b7ff0feda652a1bc6135b27bf	Non-syndromic @DISEASE$ is a rare form of genetic @PHENOTYPICFEATURE$ accounting for a small proportion of all hereditary hearing loss.	false
+cfcf9cec75d141cdc08f9ea5be8ba5cbceb88cc6	@DISEASE$ is a rare cause of hereditary @PHENOTYPICFEATURE$.	false
+f8fc691313c0f61af9c491181ab170b12392118d	Phenotypic evidence for a common pathogenesis in @DISEASE$ pedigrees and in Xq13-q21 deletion related @PHENOTYPICFEATURE$.	false
+23e5a5e571832f52cd4cd5638fa882d3d54eb694	@DISEASE$ is a rare cause of hereditary isolated @PHENOTYPICFEATURE$ estimated as at least 1% or 2% of the non-syndromic hearing loss.	false
+6384810d83dbf1d293d492ba8141d5fb6ed893b8	We have performed detailed clinical evaluation and linkage studies on seven pedigrees with nonsyndromic @DISEASE$ and conclude that there is evidence for at least two loci for this form of @PHENOTYPICFEATURE$, including one in the Xq13-q21 region.	false
+dc8dedafef27f64cff61844f7bf17acac5690c43	Mutations in the @DISEASE$-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of @PHENOTYPICFEATURE$ associated with dystonia.	false
+57a9d758f7cc6b682a42151373b73f5b94370ef5	Non-syndromic @DISEASE$ is a rare form of genetic @PHENOTYPICFEATURE$ in humans accounting for a small proportion of all hereditary hearing loss.	false
+0014098a6bfbfaa48d2e8a1fff79e976afd104ba	Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical @PHENOTYPICFEATURE$ ("corkscrew" cochlea with an absence of modiolus) specific to @DISEASE$-2 (DFNX2).	false
+2141f2935611c4ac61e529991205e8857af670e0	Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic @PHENOTYPICFEATURE$ and, more recently, the cloning of an @DISEASE$ gene, DFN3, and the Usher syndrome type IB gene.	false
+da7fbad5e10d62c05619b20c6c166ed0dd3737c1	Germline mutations in the CDKN2A locus, encoding the key @PHENOTYPICFEATURE$ suppressor proteins p16/INK4A and p14/ARF, are frequently present in kindreds with @DISEASE$ but have seldom been reported in families with genetic susceptibility to head and neck squamous cell carcinomas (HNSCC).	false
+4dd07dc2e330b46b2ca52f95ebb79506695cbc31	This study shows that a coordinated program aimed at detecting and offering skin surveillance in kindreds with @DISEASE$ results in a low incidence of melanomas during the follow-up period and that the @PHENOTYPICFEATURE$ that do arise have favorable prognostic characteristics.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+30829fef7451990b3f1c19ee6b8d363a29a6ae69	@DISEASE$ with multiple benign @PHENOTYPICFEATURE$ and hamartomas.	false
+f813e176dcae5de18da7b34e27c3dbf26fbea98e	We report the unusual association of Progressive Facial Hemiatrophy (@DISEASE$) with multiple benign @PHENOTYPICFEATURE$ (orbital neurinoma, mandibular odontogenous fibroma) and hamartomas.	false
+28656beccc210d307f57b60dfa6239b2edd66ea2	We report the unusual association of @DISEASE$ (Parry-Romberg syndrome) with multiple benign @PHENOTYPICFEATURE$ (orbital neurinoma, mandibular odontogenous fibroma) and hamartomas.	false
+95d98b82376818d76c6a46417384c69fec15220a	Brain CT-scan and MRI showed porencephaly and @PHENOTYPICFEATURE$ ipsilateral to @DISEASE$.	false
+a28bf3ee051928e075fa1fef8a43eedcb420743f	Specific reconstructive problems included augmentation for Romberg's @DISEASE$, external ear canal reconstruction after @PHENOTYPICFEATURE$ ablation, and coverage of lower limb defects.	false
+eed6adfa01030052201a6ab6b203f80586edc62a	Indications were @PHENOTYPICFEATURE$ resections, burn wound, @DISEASE$, trauma, and moyamoya disease.	false
+2dbdaa08b06ccfa77c26195b061f7a3e05041c82	The number of extracutaneous manifestations (ECMs; e.g., @PHENOTYPICFEATURE$ and @DISEASE$) and female sex predicted negative QoL impact, defined as a Children's Dermatology Life Quality Index score >1 (P?=?0.019 for ECMs and P?=?0.002 for female sex).	false
+fe3da138b7e8fed2ab507b112550be3583b49307	Soft-tissue defects requiring reconstruction resulted from acute trauma in 12 patients, @PHENOTYPICFEATURE$ ablation in 5 patients, infection in 1 patient, and @DISEASE$ in 1 patient.	false
+c318f50ffc4f79c744240cd07c1aba377a665d29	One of the main challenges faced by surgeons performing reconstructive surgery in cases of facial asymmetry due to @DISEASE$ or @PHENOTYPICFEATURE$ surgery is the restoration of the natural contour of the face.	false
+9556fba22da81512f7e65fef608030a9537a8fba	All the 50 patients (hemifacial microsomia, @DISEASE$, mandibular condyle hyperplasia, secondary @PHENOTYPICFEATURE$, and Crouzon syndrome) received surgeries, and their facial appearance improved significantly.	false
+6240da01ea3add86226164ec2999d96d27c1b772	The parents had @PHENOTYPICFEATURE$ without any signs of @DISEASE$.	false
+b2819ae672d8f2fce40bf57425f203644a51c1a4	Patients with @DISEASE$ have a skeletal dysplasia with marked @PHENOTYPICFEATURE$.	false
+57642376c4cc7c1d96f6ad36a28554c49b8d97d7	The remaining 160 procedures were performed because of a @PHENOTYPICFEATURE$, which was secondary to achondroplasia (fifty-eight limbs), Turner syndrome (thirty-four), an idiopathic etiology (twenty-two), hypochondroplasia (twenty), achondroplasia (ten), Ellis-van Creveld syndrome (six), rickets (four), or adrenogenital syndrome, Laron syndrome, or @DISEASE$ (two limbs each).	false
+30913d94f069812e04c6ff0132e7f9baa76ea970	COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fairbank type and @DISEASE$. Unlike previously reported cases with the Ribbing type, the present patients did not have @PHENOTYPICFEATURE$ or brachydactyly.	false
+7d818f3a1ce1600f67eb6a70b600750aea257a9b	It was concluded that systemic manifestations of @DISEASE$, particularly @PHENOTYPICFEATURE$, are present even in childhood and these warrant the clinician's attention.	false
+1122b06da134041a78c4e4b2628f550af1206327	The most common cardiovascular disorders associated with @DISEASE$ include @PHENOTYPICFEATURE$ and aortic aneurysm.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b9bfe5dfd01624cc00a330139e48fdb0a3617355	These early @PHENOTYPICFEATURE$ are likely to be amenable to antihypertensive therapy, reinforcing the need for routine screening of children with @DISEASE$.	false
+02c969ab27a81dd2e025ff7de7140f25d90749ca	The cyst burden detected by imaging represents the minority of cyst burden, and renal and @PHENOTYPICFEATURE$ are the most common manifestations in children with @DISEASE$.	false
+b91babe936a37274a6905d7a5832b1ae62b1d118	The hypertension in patients with @DISEASE$ occurred in the absence of @PHENOTYPICFEATURE$ or abnormal urinalysis.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+cb5dfd7c9d4e787970f22eadfbea7000a40613bf	Patients with autosomal dominant polycystic kidney disease (@DISEASE$) have an increased incidence of hypertension and @PHENOTYPICFEATURE$.	false
+dc33fa2bcc54754bbedbe1f69d5d29edc05bd7ac	Patients with @DISEASE$ (ADPKD) have an increased incidence of hypertension and @PHENOTYPICFEATURE$.	false
+764384fdaa2186e11090e2b4f7acf232c064b1b4	Cardiovascular manifestations occur in a high percentage of patients with @DISEASE$, including hypertension, left ventricular hypertrophy, cardiac @PHENOTYPICFEATURE$, and intracranial aneurysms.	false
+8ba877adc01c8cb50b08fe216b250636a89bbd2f	In @DISEASE$ (ADPKD) @PHENOTYPICFEATURE$ have been observed before the onset of hypertension or renal dysfunction.	false
+b80b75531a24fc519c1a41599f3989c86daae961	In autosomal dominant polycystic kidney disease (@DISEASE$) @PHENOTYPICFEATURE$ have been observed before the onset of hypertension or renal dysfunction.	false
+89343f6e17db1a0390e3d704d0e537a718a9763b	The study was terminated after a patient dosed at 1 mg/kg exhibited severe @PHENOTYPICFEATURE$; he was subsequently diagnosed with @DISEASE$.	false
+8c8ce8b6ddb13c1ffb94b0dcd7ce51692e469a32	The mutations we found were identical to those detected in patients with @DISEASE$, a risk factor of neonatal nonphysiologic @PHENOTYPICFEATURE$ and a genetic factor in fasting hyperbilirubinemia.	false
+d1f7e2a5017e3a15ddbbadfa18af62d86217b506	@DISEASE$ (GS) is a frequent condition that causes a reduction in glucuronidation and intermittent @PHENOTYPICFEATURE$ episodes.	false
+90b045b81b2a6d15a15e8632045a3c9bbb645d28	The 7-TA repeat allele has been associated with elevated serum bilirubin levels that cause a mild @PHENOTYPICFEATURE$ (@DISEASE$).	false
+c943675b22410f9585d00d5ba0fa1b55b90f721b	Among the kindred with a history of Crigler-Najjar syndrome type II, only the six heterozygous carriers who had a longer TATAA element on the structurally normal allele had mild @PHENOTYPICFEATURE$, characteristic of @DISEASE$.	false
+0d9be6616b69b180f905dab2e3f5d5d2eb3f9955	Ten of them had familial @PHENOTYPICFEATURE$ (@DISEASE$) and ten had been considered as healthy controls.	false
+e2f7f23d12dc3bf1b3f4f552125383d3f71b8aca	Mild @PHENOTYPICFEATURE$ episodes are expected in people with @DISEASE$ when they are exposed to physical stress, such as operative intervention or low energy intake.	false
+1b0d970696dac316bcdb241592b1919e5d1dfb33	Ten subjects with @DISEASE$ were included in this study according to the following criteria: fasting @PHENOTYPICFEATURE$; no hemolysis or gastrointestinal disorders and free of any medication.	false
+f110dfe42714bc91d2639bca8b60db6d3d584e23	A polymorphism in the promoter of this gene was recently shown to be responsible for @DISEASE$ which is associated with mild @PHENOTYPICFEATURE$.	false
+4b96eda8331bbc5d25689aacc50d06660da4c211	These data suggest that some instances of isolated @PHENOTYPICFEATURE$ in pazopanib-treated patients are benign manifestations of @DISEASE$, thus supporting continuation of pazopanib monotherapy in this setting.	false
+78abcbc994c7a5d576d6570359aaeb1fd7918d8d	The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, @DISEASE$ @PHENOTYPICFEATURE$ with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele.	false
+5b33a8fdc2c6de4d48778cb898227d4a63290565	Nocardial cerebral abscess associated with @DISEASE$, @PHENOTYPICFEATURE$, and membranoproliferative glomerulonephritis.	false
+77cbfdebc9891ff11d2fd5642611f37a65549d3e	@DISEASE$ should be considered in the differential diagnosis of an asymmetric @PHENOTYPICFEATURE$, particularly when CSF and imaging studies are normal.	false
+ac60bf0974384b72045b34a31dba03dc46ee56f7	Autopsy case of acute encephalopathy linked to @DISEASE$ with cerebellar atrophy and @PHENOTYPICFEATURE$.	false
+3a59baec483826683bfc0aa77bba7713548967e9	Three children with @DISEASE$ presented with right-sided weakness, speech difficulty, altered mental status, and @PHENOTYPICFEATURE$.	false
+36f8ae66df1bee6d8eeffcc92b1287eb7be5bc46	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+054d1e641522e8d20a36aebe1ceaac1c0ee0c003	Several other neurological signs and symptoms can be associated with @DISEASE$ such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and @PHENOTYPICFEATURE$.	false
+3a84eac75965e17bf35a8fb2047e0699219f47bb	Other presentations include iron-deficiency anemia, osteoporosis, @DISEASE$, and neurologic disorders, mainly @PHENOTYPICFEATURE$ and ataxia.	false
+98338a62a6a83d136c2c72f8981a5c37d7588d5e	@PHENOTYPICFEATURE$ occurred in a 32-year-old man who was receiving dapsone (Aviosulfon) for @DISEASE$.	false
+0592ea5bc946405fbf588effed9e59f7672ea9c1	The latter group consisted of 12 subjects with other neurodegenerative disorders (4 with @PHENOTYPICFEATURE$, 2 with @DISEASE$ with progressive supranuclear palsy and 3 with corticobasal degeneration and 12 patients with cerebral infarction (CI), 6 with vascular parkinsonism and 6 without it.	false
+f4dfc317d85cd4957cae64e72ea95c483b316f66	Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4bf596c4171ae0827147983657400445f08723f0	The first group, syndromic-associated tumors, includes phosphase and tensin (PTEN)-@PHENOTYPICFEATURE$ tumor syndrome/Cowden syndrome, familial adenomatous polyposis/Gardner syndrome, Carney complex type 1, Werner syndrome, and @DISEASE$.	false
+2300556389302ae16e0b5583148ef7fb0709c889	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1d0a976615e0bad3196baada6dac00611f0f9773	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, cataracts, microcephaly, peripheral neuropathy, and @DISEASE$.	false
+e3f073a2026cdef3bfe8523360e237716e519514	On it, due to isolation and consanguineous marriages, certain hereditary diseases such as dwarfism, @PHENOTYPICFEATURE$ and a progressive @DISEASE$ associated with cataracts and mental defect, appear more frequently than in the rest of the population.	false
+f0afdc1054e5f0bde60163d374ababd091f719a6	@PHENOTYPICFEATURE$ and prolonged survival in a girl with @DISEASE$.	false
+9bbd21fdb2621b29822e7aec52c657e024ecfe0c	@PHENOTYPICFEATURE$ after @DISEASE$ surgery.	false
+9bbd21fdb2621b29822e7aec52c657e024ecfe0c	@PHENOTYPICFEATURE$ after @DISEASE$ surgery.	false
+559f01f4faccca3a13b73ba95629be4de24a4ecf	Along with @DISEASE$, @PHENOTYPICFEATURE$, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide.	false
+1f22df51d875a973000f49f07bba4a15e8dc2be5	Along with @DISEASE$, macular degeneration, infectious disease, and @PHENOTYPICFEATURE$, myopia is one of the most important causes of visual impairment worldwide.	false
+f285d7b4487a81d303d6aabba19ffe1f01090ff1	@PHENOTYPICFEATURE$ following @DISEASE$ extraction.	false
+9bbd21fdb2621b29822e7aec52c657e024ecfe0c	@PHENOTYPICFEATURE$ after @DISEASE$ surgery.	false
+9bbd21fdb2621b29822e7aec52c657e024ecfe0c	@PHENOTYPICFEATURE$ after @DISEASE$ surgery.	false
+9bbd21fdb2621b29822e7aec52c657e024ecfe0c	@PHENOTYPICFEATURE$ after @DISEASE$ surgery.	false
+a939781a3777dd492dbd03d66e239a4654b959f0	Both had epilepsy, learning difficulties, chronic diarrhoea and @PHENOTYPICFEATURE$ @DISEASE$.	false
+559f01f4faccca3a13b73ba95629be4de24a4ecf	Along with @DISEASE$, @PHENOTYPICFEATURE$, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide.	false
+1f22df51d875a973000f49f07bba4a15e8dc2be5	Along with @DISEASE$, macular degeneration, infectious disease, and @PHENOTYPICFEATURE$, myopia is one of the most important causes of visual impairment worldwide.	false
+abd26cf980c14a6f53615ba3e61081e8005acc28	All patients initially presented with congenital @DISEASE$ along with strabismus, facial dysmorphism, @PHENOTYPICFEATURE$, and demyelinating neuropathy.	false
+9e50497e432c3315e68c9a4a09462a22d13029b2	All patients initially presented with congenital @DISEASE$ along with strabismus, @PHENOTYPICFEATURE$, short stature, and demyelinating neuropathy.	false
+2819c3d84ac4e3cd7b3260f336835c173d0220dc	COL4A5-associated @DISEASE$ in a female patient with early inner ear @PHENOTYPICFEATURE$ due to a mutation in MYH9.	false
+4cf57d7f5f94a208bbf1b7720a0d61b70674cf38	Whereas mutations in COL4A5 and contiguous X-chromosomal deletions involving COL4A5 and COL4A6 are associated with @DISEASE$, a nephropathy associated with @PHENOTYPICFEATURE$ and cataract, mutations in COL4A6 alone have not been related to any hereditary disease so far.	false
+db38a0144c4b208aacd18e0db7180ef5e7baad66	By using PCR-amplification and direct sequencing we identified a novel mutation involving a deletion of the last two bases in the codon GGA for Glycine-1479 in exon 47 of the COL4A5 gene in a patient with a juvenile form of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+da00b0a0fe08109fa5dddc62c3d843ab41d41023	This study describes the first COL4A4 mutation in an individual with biopsy-proven TBMD who did not have a family member with autosomal-recessive or @DISEASE$, inherited renal failure, or @PHENOTYPICFEATURE$.	false
+4c0a339dce4c5074ad77e1ce56b458634caaa2d6	@PHENOTYPICFEATURE$ and electro-encephalographic changes in @DISEASE$.	false
+2b21cd44c0e211847f912698a72275131818da6a	Anterior @DISEASE$ developed over 15 years in a man who had had a sudden episode of left @PHENOTYPICFEATURE$ and slurred speech at the age of 45 years.	false
+cf61f34c4f1c34325ceb483459ad44ba9b4105b8	Recurrent interstitial deletions of 14q22-q23 have been associated with AM, sometimes with poly/@PHENOTYPICFEATURE$ and @DISEASE$.	false
+18d54f9132436564ba4e1306c18f27ba8da039c5	[@DISEASE$ @PHENOTYPICFEATURE$ in Sheehan's syndrome].	false
+a39af1ccd119695f0716b57e1f61476db1557400	Our third possible case had a bifid epiglottis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8599b6477b8634691a13d39c1428ec14eb87e0b3	@PHENOTYPICFEATURE$ and allied disturbances of consciousness in @DISEASE$.	false
+1a1dc1530e95ebc9898d81c362bd02e4c7410829	With respect to the type or severity of @DISEASE$, CPHD was more often associated with an @PHENOTYPICFEATURE$ (OR 6.1, 95% CI 1.4-27.4,	false
+6a7be7f7fd2b92103584fec25aad1a2b8d8def90	This patient with degenerative spinocerebellar @PHENOTYPICFEATURE$ had multiple @DISEASE$.	false
+028e356e93bb4988a80257f11f3c4ab3a3c404ad	Myxedema @PHENOTYPICFEATURE$ can be a predominant finding of acute anterior @DISEASE$.	false
+93a2ab2ace0aae8a7e54dfa2a4588d30c26ca45f	Hypothalamic @DISEASE$ following Shigella @PHENOTYPICFEATURE$.	false
+17d8c131a88bf39f6c29e35fdff4734a5bd67c77	The authors examined predictors of functional and cognitive disability, institutionalization, and death, as well as time to the development of psychosis (e.g., delusions, hallucinations), extrapyramidal signs (@DISEASE$), diurnal @PHENOTYPICFEATURE$, and depression in 185 patients with definite AD and 60 with autopsy-confirmed AD+LB.	false
+b2047f9c1d3bb30984ba242d873ed708b3b28b6b	Patients with AD+LB can develop @DISEASE$ and diurnal @PHENOTYPICFEATURE$ earlier and have faster time to institutionalization than those with AD alone, but cognitive and functional decline and physical survival are similar between these two entities.	false
+986fa937b3b9f709cff970f54e291b69fd0cda04	Ten patients had idiopathic intermediate uveitis, 9 patients had Behcet's disease, 10 had @DISEASE$, and twelve patients had presumed ocular tuberculosis @PHENOTYPICFEATURE$.	false
+baa059e188475899f238e9a7dbcc07aabd7ddce0	Phase I/II clinical trials are under way in multiple sclerosis and @DISEASE$, and are being planned in systemic lupus erythematosus, systemic sclerosis, systemic @PHENOTYPICFEATURE$, and other AD.	false
+19f7c2ce66b7319b233f465155098965828fddc0	A 27-year-old immunocompromised man with @DISEASE$ presented with bilateral septic hip @PHENOTYPICFEATURE$ due to Salmonella enterica serotype Typhi.	false
+a5e49c0f65b97b1c41cca46bc889c849f40e0f75	Presence of AECA may be relevant to the hypothesis that @DISEASE$ (CD) is a form of intestinal @PHENOTYPICFEATURE$.	false
+7956babac525a7d41e82faa22b30633db658323b	However, for those with a chronic illness, such as @DISEASE$, @PHENOTYPICFEATURE$ or neurological conditions, wound healing may be problematic because of the illness.	false
+542dd07f293fecc8a90e646dd8b170de4b559bee	Simultaneous central retinal artery occlusion and optic nerve @PHENOTYPICFEATURE$ in @DISEASE$.	false
+bc05fcbcc804bac36fb74505d5b2bd85c98c3074	In patients with @DISEASE$ @PHENOTYPICFEATURE$ of the large joints, osteomalacia, osteoporosis and aseptic bone necrosis as a consequence of malabsorption and glucocorticoid intake may occur.	false
+f3a306fa0efed20eddfef59e08a0e3b5aa58b86b	To our knowledge, this is the first case of unilateral CRAO and bilateral optic nerve occlusive @PHENOTYPICFEATURE$ in @DISEASE$, which should be considered as an etiology of retinal vascular occlusive disorders especially in young patients.	false
+2a8e4fc922bbc1ed2763951857b79b46d44bf26e	Twenty-one SNPs previously implicated as common variants predisposing to atrial fibrillation, @DISEASE$, multiple sclerosis, @PHENOTYPICFEATURE$, or type 2 diabetes were successfully genotyped in 9483 samples accrued over 4 mo into BioVU, the Vanderbilt University Medical Center DNA biobank.	false
+4ac9b37bb0ef1339b36c757fd08ac2a62e2cda52	Strong agreement was obtained for the 8 conditions selected by the experts among the 133 possible: celiac disease, @DISEASE$, craniopharyngioma, @PHENOTYPICFEATURE$, Turner syndrome, growth hormone deficiency with pituitary stalk interruption syndrome, infantile cystinosis, and hypothalamic-optochiasmatic astrocytoma (in decreasing order of agreement).	false
+e137da3b391522f09fce70e0712f23a6bfdfa4df	@PHENOTYPICFEATURE$ was discovered before or simultaneously with the diagnosis of @DISEASE$, and patients were not treated with mesalamine.	false
+57a3d66839997b0e698b328cf97dd849c97bb409	Growth hormone releasing factor neuroendocrine @PHENOTYPICFEATURE$ (@DISEASE$) present with acromegaly and account for less than 2% of the acromegalic patients in which the growth hormone is from an ectopic source located in the pancreas.	false
+8b76c9f1b0ddb2b5bc2adc738e2ac62ef6ae0643	@DISEASE$ and @PHENOTYPICFEATURE$ syndrome (Froster syndrome).	false
+77393c1463e1f22d36a35d6c104b7b038c5ad43a	We used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, @PHENOTYPICFEATURE$, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and @DISEASE$ (CDH).	false
+ddd9e797e6b1ca253d0be9d75048dff057d538ea	We used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, microcephaly, developmental delay, @PHENOTYPICFEATURE$, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and @DISEASE$ (CDH).	false
+c6ce1434b225606d53632340ebf78ea8b33109d0	In follow-up studies of infants born with @DISEASE$, many complications including pulmonary damage, cardiovascular disease, gastro-intestinal disease, @PHENOTYPICFEATURE$, neurocognitive defects and musculoskeletal abnormalities have been described.	false
+42253a02282c17b73e8b55a6db14f1e38dbb97ae	An individual preoperative severity scale was established for AHASIT patients, with one point for each of the following preoperative complications: prematurity, low body weight, cyanosis, intolerance to drug therapy, failed interventional treatment prior to admission, mechanical ventilation prior to the procedure, chronic respiratory failure and non-cardiac, mainly congenital malformations (@DISEASE$, lower extremity agenesia, duodenal atresia) and acquired problems (newborn @PHENOTYPICFEATURE$, necrotic enterocolitis, intracranial hemorrhage, liver and renal failure, anemia and thrombocytopenia, infections or colonization with drug-resistant pathogens).	false
+ad6a60d963c5717003a5df54204c7e66fb667a16	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (@DISEASE$), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+8bf726b5215cf605d08a3a38bb5acd59410c4688	The lack of optic disc @PHENOTYPICFEATURE$, usually present in patients with WE who have severe optic neuropathy, and lack of visual loss reversibility with thiamine treatment, led to the suspicion of coexisting @DISEASE$ (LHON), which was later confirmed when testing revealed the 14484 mitochondrial DNA mutation.	false
+66a7575a51bf0041982b83c5eeeb87aa74f7ab92	We report a French pedigree with members having an inherited combination of non-@DISEASE$ (NEPPK) and @PHENOTYPICFEATURE$.	false
+31b587ecd38e1f0ca22c1b5f3e7fa8f86cd27663	To study the participation of these three mechanisms in the effects of bulbectomy + light deprivation, we compared, in 28-day-old male rats, the effects of olfactory bulb deafferentation (peripheral anosmia) with those induced by either olfactory bulbectomy or blocking the @DISEASE$, alone or associated with @PHENOTYPICFEATURE$.	false
+8c56b3ee4d5be82f885dc4b1ee89b536a1df504c	The treatment of NASH with hepatoprotectors and antioxidant I in the sufferers of the Chornobyl accidentincreased the level of antioxidant defense products (catalase and superoxide dismutase) with the normalization ofthe integral index of the @DISEASE$, and a significant decrease in the number of patients with reduced AOS status (from42.6% to 24, 2%, p <0.05), positive dynamics of biochemical parameters of blood with decreasing frequency ofdetection of cholestasis syndrome, hypercholesterolemia and @PHENOTYPICFEATURE$ were established as well as the positivedynamics of structural changes in the liver according to ultrasound data.	false
+ea81b6eeb19a0aa9cc61494c499584f82614ad1c	The treatment of NASH with hepatoprotectors and antioxidant I in the sufferers of the Chornobyl accidentincreased the level of antioxidant defense products (catalase and superoxide dismutase) with the normalization ofthe integral index of the AOS, and a significant decrease in the number of patients with reduced @DISEASE$ status (from42.6% to 24, 2%, p <0.05), positive dynamics of biochemical parameters of blood with decreasing frequency ofdetection of cholestasis syndrome, hypercholesterolemia and @PHENOTYPICFEATURE$ were established as well as the positivedynamics of structural changes in the liver according to ultrasound data.	false
+87d1f7f218ec5a007d5925d20c41d2f56c5dc923	It is recognised that several forms of congenital muscular dystrophy, namely Fukuyama CMD, @DISEASE$ and Walker-Warburg syndrome, have structural brain abnormalities and associated @PHENOTYPICFEATURE$.	false
+07666565528f5ba12f681a700084e58cc24294d0	Cobblestone (type II) lissencephaly and @PHENOTYPICFEATURE$ are characteristic features of a subset of congenital muscular dystrophies that include Walker-Warburg syndrome, @DISEASE$, and Fukuyama-type congenital muscular dystrophy.	false
+24008a948cfef9b2dc28d923ecf817ddd8cc2826	We present the clinical, genetic and histopathologic findings in two siblings with @DISEASE$ (MEB-D), an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, muscular dystrophy, retinal hypoplasia and brain abnormalities.	false
+cdd3629e502256a6b65e26b39dd07d67fdc430cb	Among the group of CMDs with abnormalities of brain formation and @PHENOTYPICFEATURE$, genetic, immunohistochemical, and clinical differences are now beginning to emerge to help in the distinction between Fukuyama muscular dystrophy, the Walker-Warburg syndrome, and @DISEASE$.	false
+850f0e23129d921e1cfc8872e5ef72216a366f1b	Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in @DISEASE$, a congenital muscular dystrophy with structural eye and brain defects and @PHENOTYPICFEATURE$.	false
+3ae287153e7f0376ccb02f12cf5d31da737bc3d8	The normal brain MRI and normal cognitive development distinguish this form from Fukuyama congenital muscular dystrophy, @DISEASE$ or other forms of CMD with secondary partial merosin deficiency and abnormal brain MRI and/or @PHENOTYPICFEATURE$.	false
+695b95ae0bd1362ecb7a2c7eabeef7d62c1ea0a2	@DISEASE$ (MEB) is an autosomal recessive disease of unknown etiology characterized by @PHENOTYPICFEATURE$, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain.	false
+0319d7e3449a43ccc9529f1c2f7ffcae4883552b	The most severe phenotypes are Walker-Warburg Syndrome (WWS) and @DISEASE$ (MEB) presenting with lissencephaly type II (LIS II) and in which muscular dystrophy is associated with @PHENOTYPICFEATURE$ and eye abnormalities.	false
+9eea31a174e0ee505ab45d067bc41ab9a3b21a30	@DISEASE$ (MEB) and Fukuyama type congenital muscular dystrophy (FCMD) are clinically similar autosomal recessive diseases, characterized by congenital muscular dystrophy and @PHENOTYPICFEATURE$, raising the possibility that they might be caused by mutations of the same gene.	false
+ebb055f469cc336ffefa687cb398878bbacc7c4d	@PHENOTYPICFEATURE$ are uncommon and are usually associated with Dandy-Walker continuum, Joubert syndrome, rhombencephalosynapsis, lissencephaly, Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, @DISEASE$, congenital cytomegalovirus infection to name a few.1,2	false
+5b1ae191e78645b47bcc6fedacc9049f699d30a0	@DISEASE$ with @PHENOTYPICFEATURE$: a case report.	false
+0da16b86039a74c51efadf6fd6cf5ac5574d00c3	@DISEASE$ (HSD) is a rare, @PHENOTYPICFEATURE$ disorder; the new and preferred name for HSD is 'pantothenate-kinase-associated neurodegeneration' (PKAN).	false
+e3e35a753beb95b09a45a336339a2bd4044f2fe7	Patients with @DISEASE$, an autosomal recessive, @PHENOTYPICFEATURE$ disorder, have mutations in a novel pantothenate kinase gene (PANK2).	false
+056e1c0a8c8e8acd83b7e4f03b06e8b7822b9e1d	Finally, patients with @DISEASE$, an autosomal recessive, @PHENOTYPICFEATURE$ disorder, have mutations in a novel pantothenate kinase gene (PANK2).	false
+8387d75b7be07205500426dfaa8a0284d6ebc247	We describe, with a brief thematic review, the case of a 47-year-old woman that was hospitalized to study a clinical picture characterized by massive splenomegaly with asthenia, postprandial fullness, weight loss and @PHENOTYPICFEATURE$ in the left lower extremity, in which @DISEASE$ was diagnosed.	false
+acbfa8152dd9f1fb2ea06020b04a42693d0ea008	The unusual presentation of transient bone marrow @PHENOTYPICFEATURE$ syndrome with regional migratory osteoporosis features in a young patient with @DISEASE$ is described.	false
+02b34f6a51061668236b3a29948a70284715bf56	We describe a 15-year-old male patient with type 1 @DISEASE$ who presented with transient bone marrow @PHENOTYPICFEATURE$ syndrome with features most closely resembling regional migratory osteoporosis.	false
+5df8e7708d6f20433eda153843fdc72b912b82a2	The patient presented with bone marrow @PHENOTYPICFEATURE$ of the lateral tibial epiphysis of his right knee that was incidentally seen on routine surveillance MRI that was performed as protocol for patients with type 1 @DISEASE$ on enzyme replacement therapy.	false
+e673d3fb348bae40646239b0905de49bad71f0ce	A complete evaluation for @PHENOTYPICFEATURE$ and lymphadenopathy was performed, with subsequent lymph node biopsy and enzyme assay confirming the presence of @DISEASE$.	false
+6ed9e081f04b09e9f14c5e9b93b3aeb0112ca751	Marrow signal abnormalities in children with @DISEASE$ can have a broad differential, including infection, marrow infiltration, trauma, osteonecrosis, and bone marrow @PHENOTYPICFEATURE$ syndrome, amongst others.	false
+b23e328c8a5d4a13a490268344740ed6ceec134a	@DISEASE$ type 2 (GD2) is defined by acute neurological decline, @PHENOTYPICFEATURE$, and early demise.	false
+6da75ab5fa25d1517e7aa98c78d845bf319c4f44	The bone changes, although dramatic, can be confused with other types of @PHENOTYPICFEATURE$ such as @DISEASE$ and multiple exostoses.	false
+fad6b08618cd71640d22c7c9d8805238e007b226	@PHENOTYPICFEATURE$ are considered as definitive features for the diagnosis and differentiation of @DISEASE$ from other anterior chamber of the eye malformations.	false
+42610f51af6b151d894ffd857f6fa0ecb0fa116b	Patients with @DISEASE$ (ARS) present various @PHENOTYPICFEATURE$, including hypodontia, and enamel hypoplasia.	false
+b55f6596d7d3e168630c6de93612b46b2712e143	@DISEASE$ is a rare genetic disorder characterized by ocular and @PHENOTYPICFEATURE$.	false
+5b645967fea4413f909eabfcbdf3c3238c40cd36	@DISEASE$ is an autosomal dominant condition characterized by a variable combination of anterior segment dysgenesis, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+a66ff92aa6793301896c169535232a5b150863e5	@DISEASE$ (ARS) is an autosomal dominant condition characterized by ophthalmologic anterior segment abnormalities and extraocular findings including @PHENOTYPICFEATURE$ and redundant periumbilical skin.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+c5f9b3a1c54f77faf1e21cde2427e34207552762	We have studied a three-generation Chinese family affected with @DISEASE$ and showing prominent @PHENOTYPICFEATURE$.	false
+eb97786854a3ae6036649f3b8a5bfcc5030fe3ca	@DISEASE$ (ARS) patients with PITX2 point mutations exhibit a wide range of clinical features including mild craniofacial dysmorphism and @PHENOTYPICFEATURE$.	false
+d8ee263c091dde0107f8e710c1f503f30f4cd95a	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, @PHENOTYPICFEATURE$, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+d7a47b0fff8834c7b575b23384f975b362f91e2b	@DISEASE$ (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and @PHENOTYPICFEATURE$.	false
+c2ca377e83c9cd892f512d972699f9a590a3cda8	For nvCJD, initially, difficulty with balancing and @PHENOTYPICFEATURE$ @DISEASE$, confluent spongiform changes are seen in the cerebellum, and a large number of PrP plaques are seen.	false
+54a6aa5e0f9c266f08cf1dcd9d33491e191c7243	Neurogenic bladder @DISEASE$ as a consequence of several conditions, most commonly posterior urethral valves syndrome, @PHENOTYPICFEATURE$, tethered cord, sacral agenesis, and Arnold-Chiari malformation.	false
+0f1d8dbb08162acc0058949ec678048c67d4fee5	Laryngomalacia @DISEASE$ in some brain injury patients secondary to global @PHENOTYPICFEATURE$.	false
+96af15c069066bf6f874344af64666658d60d281	Normal examination results were more common in patients with @DISEASE$, whereas @PHENOTYPICFEATURE$, facial numbness, and multiple cranial neuropathies were more common in patients with chondrosarcoma.	false
+ad7961ce74e71f0be7ddf4f53ca490a8f6f16bb3	Over 4,000 patients with trigeminal neuralgia/intractable @PHENOTYPICFEATURE$, arteriovenous malformations/angiomas, metastases, ependymomas, gliomas, meningiomas hemangiopericytomas, schwannomas, adenomas, hemangioblastomas, and @DISEASE$ were treated.	false
+faa831f1b28906d3642e98374f7df117988ca5f8	Twenty-five (52%) of the patients with @DISEASE$ and 24 (49%) of the patients with chondrosarcoma had ocular symptoms (diplopia or @PHENOTYPICFEATURE$) as the initial manifestation of the disease.	false
+37d8c60c9bc75a6e706850bb08841448e39dabcc	We conclude that cardiac defects in @DISEASE$ are not rare findings and that eye colobomas and @PHENOTYPICFEATURE$ were previously unrecognized.	false
+b3cb0ae21cd51307b6eb52171c4fc7550df976ef	A significantly higher proportion of @DISEASE$ patients was transfused blood products, required greater than 4L of fluids, demonstrated @PHENOTYPICFEATURE$ and hypothermia, were hypotensive and demonstrated elevated lactate when compared to non-ATC patients.	false
+7a6fef66a6b383bcdc573d9f318910de21f0dd9d	Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, @PHENOTYPICFEATURE$ with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional @DISEASE$, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23.	false
+8d0fa2e2722211803450abb43e61b23369ae1f14	Systematically review the literature on the clinical outcome of bone conduction devices (@DISEASE$) and contralateral routing of sound systems (CROSS) for patients with single-sided @PHENOTYPICFEATURE$ (SSD).	false
+93cce87c1bbe7f5f77325409baed05f3a558a57a	One hundred and twenty adult single-sided deaf patients (duration of deafness >3 months and maximum 10 years; pure tone average at 0.5, 1, 2, 4 kHz, @PHENOTYPICFEATURE$ ear: threshold equal to or more than 70 dB, better ear: threshold of maximum 30 dB) will be included in this trial and randomised to CI, 'first @DISEASE$, then CROS' or 'first CROS, then BCD'-groups.	false
+0be968402b29c384f676138a8df62914ce61928a	One hundred and twenty adult single-sided deaf patients (duration of @PHENOTYPICFEATURE$ >3 months and maximum 10 years; pure tone average at 0.5, 1, 2, 4 kHz, deaf ear: threshold equal to or more than 70 dB, better ear: threshold of maximum 30 dB) will be included in this trial and randomised to CI, 'first @DISEASE$, then CROS' or 'first CROS, then BCD'-groups.	false
+397b54c2614401fdcabfbebb681f8e5c64566713	One hundred and twenty adult single-sided deaf patients (duration of deafness >3 months and maximum 10 years; pure tone average at 0.5, 1, 2, 4 kHz, @PHENOTYPICFEATURE$ ear: threshold equal to or more than 70 dB, better ear: threshold of maximum 30 dB) will be included in this trial and randomised to CI, 'first BCD, then CROS' or 'first CROS, then @DISEASE$'-groups.	false
+a57ad7d851c23e37490aeef871416acc3774f8dc	One hundred and twenty adult single-sided deaf patients (duration of @PHENOTYPICFEATURE$ >3 months and maximum 10 years; pure tone average at 0.5, 1, 2, 4 kHz, deaf ear: threshold equal to or more than 70 dB, better ear: threshold of maximum 30 dB) will be included in this trial and randomised to CI, 'first BCD, then CROS' or 'first CROS, then @DISEASE$'-groups.	false
+e3db96d500ca48d407e72834d5ef0b5c069e372e	To determine factors predicting whether patients with single-sided @PHENOTYPICFEATURE$ (SSD) opt for a bone conduction device (BCD) for the contralateral routing of sound (CROS) after a regular trial with a @DISEASE$ on a headband.	false
+261a4655bb6f0e0dfadce738b493a12ec2300e7c	To determine factors predicting whether patients with single-sided @PHENOTYPICFEATURE$ (SSD) opt for a bone conduction device (@DISEASE$) for the contralateral routing of sound (CROS) after a regular trial with a BCD on a headband.	false
+236e05acefb6f43582bfe23198bc17fecc6342cf	Mutations in the CACNA1C-encoded L-type calcium channel have been associated with @DISEASE$ (TS) with severe QT prolongation, syndactyly, @PHENOTYPICFEATURE$, developmental delay, and sudden death.	false
+b21f2c1863f373b03a206f290d997992fc382ebb	@DISEASE$ 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, @PHENOTYPICFEATURE$, episodic hypoglycemia, and neurological symptoms.	false
+ef535999bdc5e4122b6dae1082293208ad79c716	@DISEASE$ (DKC) is a rare inherited disease that is characterized by @PHENOTYPICFEATURE$, nail dystrophy and mucosal leukoplakia.	false
+a2a7f9a6d866f2000e2245034703d9c8e3284033	@DISEASE$ (DC) is an inherited bone marrow failure disorder characterized by @PHENOTYPICFEATURE$ and nail dystrophy.	false
+b4d9e9b552bf60b4d8c24057ba4829b463164e7d	@DISEASE$ (DC) is a rare, inheritable disorder characterized by a triad of @PHENOTYPICFEATURE$, nail dystrophy and mucosal leukoplakia.	false
+0e572a3b7ab8c24ce39155a42ec9551a39915915	@DISEASE$ (DC) is a rare multi-system syndrome characterized by nail dystrophy, @PHENOTYPICFEATURE$ and mucosal leukoplakia.	false
+acd56aab77dd9c593f742e9cef0b79feccac422e	@PHENOTYPICFEATURE$--a novel finding in @DISEASE$.	false
+3dad1696f6c6ba52cc3c3ccc372bd01639bbd7b5	@DISEASE$ is a rare inherited bone marrow-failure syndrome characterized by @PHENOTYPICFEATURE$, nail dystrophy, and mucosal leukoplakia.	false
+3a8a9ceb657861dc124048f68657228a421846cb	Nail dystrophy, oral leukoplakia and @PHENOTYPICFEATURE$ are the defining features of @DISEASE$.	false
+9ef616bf04bfcc7901d4b10dff9b6768261c1cec	@DISEASE$ is an unusual inherited disease characterized by the triad of @PHENOTYPICFEATURE$, nail dystrophy and mucosal leukoplakia.	false
+d3343aea97b7107537645567e50aca91aa32e850	@DISEASE$ is a progressive bone-marrow failure syndrome that is characterized by @PHENOTYPICFEATURE$, leukoplakia and nail dystrophy.	false
+6f82bb0cd9d6f4115aa7f5f1eb193bf5a164c813	@DISEASE$ (DC) is an inherited bone marrow failure syndrome characterised by dystrophic nails, @PHENOTYPICFEATURE$ and oral leukoplakia.	false
+8557e38bfd61b7b42a7fea3780664e6e16791094	Patients with @DISEASE$19 @PHENOTYPICFEATURE$ displayed relatively better OS (median: 45.3 vs 33.3 months, respectively) than those with L858R (31.4 vs 28.9 months, respectively).	false
+3f9d21f9c73f462bdc2e263ade3762be017f1469	@DISEASE$ @PHENOTYPICFEATURE$ dose can be assessed by PET and significantly impacts treatment response in HCC.	false
+c463a4ef615b5f7a7a135adbe8f3a02ad0551312	@DISEASE$ @PHENOTYPICFEATURE$ doses were 40 to 60 Gy in 5 to 7 weeks.	false
+aebc227470c897c246d2b00a02068c94bcd9fef9	An alternative and more physiological approach is to develop vaccines that @DISEASE$ @PHENOTYPICFEATURE$ antigen for in vivo uptake and presentation by the DC.	false
+abe1ca54ae2ddeab42d8a7b9150ceb666af258a4	Adoptive cell therapy using dendritic cells (DCs) is a strategy to @DISEASE$ @PHENOTYPICFEATURE$ antigens in cancer immunotherapy.	false
+61f64a87899e4aa2f86362510ac978fc31bfc910	Progress has been made recently in developing antibody-drug conjugates (ADCs) that can selectively @DISEASE$ cancer drugs to @PHENOTYPICFEATURE$ cells.	false
+43782ee7a8fe363b3edb98aae7bbe7c1db7ca42f	The prevalence of @DISEASE$22q11-syndrome among babies with @PHENOTYPICFEATURE$ with or without additional malformations was 1 of 57 (1.8%).	false
+fcc232f744527d26f2abb7e389135557a4bd5fd5	The finding that the Dis1@DISEASE$1p @PHENOTYPICFEATURE$ were frequent in MS- but not in MS+ tumors suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+2e5404c6f11f73bfec806565e56bbd1f247ce957	The finding that the Dis1@DISEASE$1p tumors were frequent in MS- but not in MS+ @PHENOTYPICFEATURE$ suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+f06e468933916885c23420ec635f96e6b8a2fe49	@DISEASE$ @PHENOTYPICFEATURE$ absorbed doses were derived from these measurements for head and neck, pelvis and breast treatments.	false
+646d2b3d01385eb8cac75eb5139b9e49f86dda3d	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this @PHENOTYPICFEATURE$-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+86e93dec75cd2104cd99482b58e3fb53fb15daad	That a @PHENOTYPICFEATURE$ can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+1a050d5c3c32d7d2cc23ef73b370c3a19832b425	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term @PHENOTYPICFEATURE$ suppression.	false
+79085c84f32e5c4af872dd49b3c0d5e10230a72e	Features in common include delayed ossification of the public bones and proximal femoral epiphyses, @PHENOTYPICFEATURE$, @DISEASE$ and lumbar lordosis.	false
+93bb418df893cfd5077ac90262220e68a2982827	All late infantile patients had @DISEASE$ and @PHENOTYPICFEATURE$, the frequency of which was significantly different than in patients with juvenile disease (none and 14%, respectively).	false
+631e01a8fc9d15fbc0bf6f134957bb2581fe96cd	SMD Sutcliffe or "Corner Fracture" type is characterized by short stature, developmental @PHENOTYPICFEATURE$, fragmented appearance of the metaphyses ("corner fractures"), abnormally shaped vertebrae, @DISEASE$, and dominant inheritance.	false
+74d5fcc194e16fd5df169501db3622c5d12b3d1b	The child also had @PHENOTYPICFEATURE$ and spastic diplegia which have hitherto not been described in @DISEASE$ syndrome.	false
+bdbd0bbd60a923add1579104a8e78355065ffb7d	A neuropsychologic investigation of epileptic children with @PHENOTYPICFEATURE$ is necessary for the detection of @DISEASE$.	false
+b4c1b764e26ec3c06a3270e72f9914aeb5c1ab3e	The effect of a severe, but nonprogressive, semantic impairment on phonological and orthographic processing was evaluated in LA, a @PHENOTYPICFEATURE$ child with @DISEASE$.	false
+850e2cebdc928033333ef198e82b9982c68cc5a3	In a series of prevalence and follow-up studies on North Dakota's 59 children with pervasive developmental disorders, the patient characteristics of @DISEASE$, Tourette disorder (TD), and the absence of @PHENOTYPICFEATURE$ were found to be associated with improved outcome or higher IQ.	false
+c8751a0f44cd60d89e3cc3e7cd87ca31a34db0b9	Although children with West syndrome frequently have associated @PHENOTYPICFEATURE$, patients with West syndrome associated with @DISEASE$ have never been reported.	false
+6672f83c6b45bf8564c82697004b9e445bb33dd9	@DISEASE$ affects the appendicular skeleton more commonly than the axial skeleton and usually presents with @PHENOTYPICFEATURE$.	false
+841863648d9961602dc1eecc2b60967abedbe63d	To determine if patients with autonomic failure have increased @PHENOTYPICFEATURE$ and if multiple system atrophy (MSA) and @DISEASE$ (PAF) patients have frequent arousals from sleep associated with an attenuated heart rate (HR) response compared to healthy volunteers.	false
+ff886d987d9dfeb2d5688a770c0e11678498ee3d	It occurs in a variety of epileptic conditions (Primary generalized epilepsy, hypsarrhythmia, Lennox-Gastaut syndrome, also known as "petit mal variant"), in inborn errors of metabolism (Tay-Sachs disease, forms of ceroid lipofuscinosis), in neurobiochemically still poorly understood forms of degenerative processes such as Essential hereditary myoclonus epilepsy (Lafora-Unverricht-Lundborg), in benign heredo-degenerative disorders (Hartung's syndrome), in CNS infections (SSPE, @DISEASE$), in metabolic encephalopathies (renal failure, @PHENOTYPICFEATURE$), in CNS poisoning, in acute cerebral anoxia and in post-anoxic states.	false
+fd838c4074b5c72f5806610bcb751c6a213a61b3	@DISEASE$: a case with extensive white matter degeneration and @PHENOTYPICFEATURE$.	false
+b0a6617eeee2776d6f57c248af0bc88ab82fe15b	@PHENOTYPICFEATURE$ and adrenal insufficiency accounted for far more mortality than @DISEASE$.	false
+f89bf0d344543a0c7900018a3c5a3607a45607bf	This is a very rare case of GSS102 with atypical MRI findings and clinical features like @DISEASE$ rather than GSS102, presenting @PHENOTYPICFEATURE$, tachycardia, and hyperhidrosis caused presumably by sympathetic hyperactivity as well as fatal familial insomnia.	false
+af9dbb5171f66ea59bde46d31504ffcd8bccaf68	A 52-year-old woman is described, whose clinical features were typical of @DISEASE$ except for the presence of @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+5eec84e69672ebd52a123189173936b1a123990e	Restricted diffusion is attributable to infarction, acute hypoxic-ischemic injury, @PHENOTYPICFEATURE$, Leigh disease, encephalitis and @DISEASE$.	false
+c8eb08ee96110816fb1b1de1b808c563f9d99e89	Etiologies for the visual field defects included the Heidenhain variant of @DISEASE$, degenerative dementia, subtle occipital ischemia demonstrated only on positron-emission tomography scanning, and nonketotic @PHENOTYPICFEATURE$.	false
+e728668cab580949e89bba65e3dc1409d7b0fb16	Current screening procedures for the @DISEASE$ at residential schools for the @PHENOTYPICFEATURE$.	false
+feb03bdea051a0894e207cc2bc01f505cbb16989	@DISEASE$ combines @PHENOTYPICFEATURE$ and retinitis pigmentosa (RP).	false
+149ca25091eaed5dd47a2bd9cc15ce24643ef9b7	In @DISEASE$, @PHENOTYPICFEATURE$ is congenital and blindness is acquired.	false
+46944922d6b643b8d7115a567e4df3700cef3a7f	The earliest clinical sign associated with @PHENOTYPICFEATURE$ evoking @DISEASE$ is late walking.	false
+5f2e931c22258d4f8a6cb38b8f38b3731c965837	These results promote generalization of early molecular screening for @DISEASE$ in @PHENOTYPICFEATURE$ children.	false
+f6454c74f8917144fd9f82166103fa24c3d50e96	@DISEASE$ is a @PHENOTYPICFEATURE$-blindness disorder.	false
+f6454c74f8917144fd9f82166103fa24c3d50e96	@DISEASE$ is a @PHENOTYPICFEATURE$-blindness disorder.	false
+4020630a4941a4322d5bf81d5e3a79c6a97423de	Because the patients suffered @PHENOTYPICFEATURE$ meanwhile, the final diagnosis was @DISEASE$.	false
+040a6e0666f95d37f34b9f4f7755a179ca2b94be	@DISEASE$ is the major cause of @PHENOTYPICFEATURE$/blindness in the world.	false
+541417ef2e994ce9c90a8308bb5a4816a460f8f4	@DISEASE$ (USH) associates @PHENOTYPICFEATURE$ and retinitis pigmentosa (RP).	false
+03db148d3d890ba8d5bfcd8480b568f59ae8acbf	@PHENOTYPICFEATURE$ may be present in @DISEASE$ patient when there is bronchial involvement.	false
+844cac80794b8e805fdbdc8091ce3a34fbf688f2	The objective of this study is to examine the impact of marital status on incidence of metastasis at diagnosis, receipt of surgery, and cause-specific survival (@DISEASE$) in patients with @PHENOTYPICFEATURE$ (GC).	false
+6407a65f110aef93095ed3272ead178407d400df	Eosinophilic granulomatosis with polyangiitis formerly named "Churg-Strauss syndrome (@DISEASE$)" is a systemic disease with @PHENOTYPICFEATURE$, hypereosinophilia, and systemic vasculitis.	false
+2a4335f1e935f15ba1a536af09e3e63ac618e138	We describe two cases of patients with @DISEASE$: a 56-year-old man, whose presentation was highly unusual because its initial predominant manifestation was odynophagia, and a 35-year-old man whose disease was diagnosed after a work-up because of nausea, vomiting and @PHENOTYPICFEATURE$.	false
+20161eb19c557e77f6c9eada55cff88236b981da	We describe two cases of patients with @DISEASE$: a 56-year-old man, whose presentation was highly unusual because its initial predominant manifestation was odynophagia, and a 35-year-old man whose disease was diagnosed after a work-up because of nausea, @PHENOTYPICFEATURE$ and abdominal pain.	false
+926627254b6148e3144b52b73bb065f8c97f4224	We report a rare case of Churg-Strauss syndrome (@DISEASE$) in a 41-year-old Japanese man with a history of middle-age onset of bronchial asthma who had severe @PHENOTYPICFEATURE$.	false
+1ed108e35c47036d8aa27cde4032b0dc8ee0bf2e	Secondary endpoints included a composite safety score (@DISEASE$) summarising the worst grades for the main catumaxomab-related adverse events (pyrexia, nausea, @PHENOTYPICFEATURE$ and abdominal pain), safety, efficacy and the occurrence of anti-drug antibodies (ADAs).	false
+9b1b173cea44cc505d8a169ae05960101e09f65d	Secondary endpoints included a composite safety score (@DISEASE$) summarising the worst grades for the main catumaxomab-related adverse events (pyrexia, nausea, vomiting and @PHENOTYPICFEATURE$), safety, efficacy and the occurrence of anti-drug antibodies (ADAs).	false
+72025b841729cadf69c3f44e33ac211c77b29d0c	Considering the high risk of perforation of the gastrointestinal tract, including the small intestine, during corticosteroid treatment in patients with @DISEASE$, any @PHENOTYPICFEATURE$ or discomfort must be investigated carefully.	false
+49433361f551e35c988340ca86636f0884c18fcd	@DISEASE$ is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+2ad5d9b453f1db60b38005b77995bb403259339f	Familial British dementia (FBD), previously designated familial @DISEASE$, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+e95af19a64d5390c9681833cc84322603ee67da4	@DISEASE$ (FBD), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+fdd901d1f893bc41813213f7dac58ddc3b2db4ce	Familial British dementia (@DISEASE$), previously designated familial cerebral amyloid angiopathy-British type, is an autosomal dominant disorder of undetermined origin characterized by progressive dementia, spasticity, and @PHENOTYPICFEATURE$, with onset at around the fifth decade of life.	false
+af86a776b324b1350687c2a0b77691f0a3cd0a77	Familial British dementia (@DISEASE$) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, spasticity, and @PHENOTYPICFEATURE$.	false
+53a3c79aa4b0fa8e9b1dea80b5864abb55e0d617	@DISEASE$ (FBD) is an early-onset autosomal dominant disorder characterized by progressive cognitive impairment, spasticity, and @PHENOTYPICFEATURE$.	false
+f2c7c9bb6d0eba1bd277835e1c005c96e5d224d7	We report on two unrelated patients with severe microcephaly, @PHENOTYPICFEATURE$, scalp rugae, and a fetal brain disruption (@DISEASE$)-like phenotype with inherited deletions of 16p13.11.	false
+257c7e144d956148e9199e95943bafbccbaa7862	Familial British dementia with amyloid angiopathy (@DISEASE$) is an autosomal dominant condition characterized by a dementia, progressive spastic tetraparesis and @PHENOTYPICFEATURE$ with onset in the sixth decade.	false
+23b211df2470436330072d49aadc0e4e2189d68a	Unusual bloating, fullness, and pressure, abdominal or @PHENOTYPICFEATURE$, and lack of energy are prominent symptoms in women with @DISEASE$ and distinguish them from controls.	false
+2640a48886c2b90d1e18c7f4e2ff8b5021728673	A 68-year-old woman was admitted with dyspnea, anemia, bilateral @PHENOTYPICFEATURE$, and metastatic @DISEASE$.	false
+7a90a6a3dd287cd071ceab4dcd38bd1521c871ef	We describe the case of an elderly woman with platinum-sensitive @DISEASE$ treated with several lines of chemotherapy who developed acute cardiogenic @PHENOTYPICFEATURE$ with her first line of therapy, which included paclitaxel, and her fourth line containing gemcitabine.	false
+9773966ce6a6d66ed462eb42f3576bc74d444912	Albinism with @PHENOTYPICFEATURE$ is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of @DISEASE$ or GS type 2 (GS2).	false
+82e66dccdeae8072e871ba1a41c9c0e69833a7f9	The last category included two patients with @DISEASE$, and one each with familial hemophagocytosis, IPEX, and @PHENOTYPICFEATURE$ and albinism.	false
+ab01ff41803dc94a564589248f2566042ae17783	@DISEASE$ type II associated with mental delay, autism, cortical @PHENOTYPICFEATURE$, nephrocalcinosis, osteopenia, and hair and teeth defects.	false
+08a3e39b47628a1dbb1be80d5f426cdf41ca4376	@PHENOTYPICFEATURE$ and reduced life span of @DISEASE$ homozygotes.	false
+9185f2b86907164267d7b67a103aaa20fe6ad52b	leading to early-onset @DISEASE$ accompanied by night blindness and @PHENOTYPICFEATURE$.	false
+c116fe028bf00d6b12685546dbb7e325dfdfce50	Removing BMP signals to the interdigit by deleting the receptor gene, Bmpr1a, causes a loss of PCD and @PHENOTYPICFEATURE$, thereby unequivocally proving that BMPs are direct triggers of @DISEASE$ in this tissue.	false
+c813bc536d9eb91308242274a0d06e059abaaeb6	Removing BMP signals to the interdigit by deleting the receptor gene, Bmpr1a, causes a loss of @DISEASE$ and @PHENOTYPICFEATURE$, thereby unequivocally proving that BMPs are direct triggers of PCD in this tissue.	false
+75f8c1d7967b334bb8831a448e8edcba7a416425	Mice injected with @DISEASE$/LEMS IgG developed marked, reversible @PHENOTYPICFEATURE$ compared with those injected with LEMS or control IgG.	false
+d21bbd66dfce92f281ecf8ac9969eeb3c7de5d8b	Exposure to antibiotics containing pivalic acid was associated with @PHENOTYPICFEATURE$ and progression to lethal cardiac arrhythmia in patients suffering from @DISEASE$.	false
+2deae477936a484e8fa2b5bc7b9ef8fa6b5c7f73	Paraneoplastic cerebellar degeneration (@DISEASE$) presents with acute or subacute onset of @PHENOTYPICFEATURE$, dysarthria, and intention tremor.	false
+8273bd6b6ccdc9414b66040536a02fb449fed9b5	The analysis of the possible etiology suggested that the @DISEASE$ was induced by lung cancer, which led to @PHENOTYPICFEATURE$.	false
+be5e5a5cdb7bdbb4bd493b4e1116aee0583dc3a3	While @PHENOTYPICFEATURE$ dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed ataxic-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+2212dee856f9b36e39f5dc7e9705fae77b80a774	While ataxic dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed ataxic-spastic dysarthria in the setting of a more diffuse @PHENOTYPICFEATURE$ should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+6d5dba97229d1913c5551273921be79c777d0e05	While ataxic @PHENOTYPICFEATURE$ was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed ataxic-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+e14c479b0804bd5dd15b48e39cf4c53d158b1f8a	While ataxic dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an @PHENOTYPICFEATURE$ or mixed ataxic-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+8fb10007d72c5084c4f537c0fcbf15201acba2a8	While ataxic dysarthria was the most common speech diagnosis, a spastic component was recognized frequently enough to suggest that the subacute (days to weeks) emergence and progression of an ataxic or mixed @PHENOTYPICFEATURE$-spastic dysarthria in the setting of a more diffuse cerebellar ataxia should raise suspicions about @DISEASE$ and justify further investigation of a possible immune-related etiology.	false
+75f6e74cf7682416f330873322c8d824e87996fb	The clinical presentation of @DISEASE$ commonly includes @PHENOTYPICFEATURE$, visual disturbances, and dysarthria.	false
+b68dc834de1409d82adc7946872511a0712f3fd4	In vivo, reduction in interdigital vessel number inhibited @DISEASE$, resulting in @PHENOTYPICFEATURE$, whereas an increment in vessel number and distribution resulted in elevation and expansion of PCD.	false
+0f9f3a3ebdabbe87559d9935be4f0b5c7e95d960	In vivo, reduction in interdigital vessel number inhibited PCD, resulting in @PHENOTYPICFEATURE$, whereas an increment in vessel number and distribution resulted in elevation and expansion of @DISEASE$.	false
+a8b54a1f498c23ff0e20b86c66e069075bf3fbc5	Paraneoplastic cerebellar degeneration (@DISEASE$) is a rare disorder presenting typically with acute or subacute severe @PHENOTYPICFEATURE$.	false
+d496eb8647401404cf9298dc72c7a9aebe625fae	Presented here is the case of a paraneoplastic @PHENOTYPICFEATURE$ (@DISEASE$) in a female patient with breast cancer and the indication of anti-Yo antibodies in the cerebrospinal fluid (CSF) and serum.	false
+7022cbf84b5581ac4227da6fa0c7d8c5dc150518	M/33, pituitary tumor, hypogonadism, hyperprolactinemia, anemia, mild leukopenia with leukocytosis, 2. F/54, pituitary tumor, hyperprolactinemia, thyreotropic and corticotropic insufficiency, @PHENOTYPICFEATURE$, thrombocytopenia, mild neutropenia, 3. F/27, pituitary tumor, diabetes insipidus, hypogonadism, sideropenic anemia, leukopenia, @DISEASE$. M/24, primary multihormonal insufficiency of the anterior portion of the pituitary gland, neutropenia, microcytosis).	false
+aef6ea96b0d9edd8db006a99e9308227fd03441d	Autosomal dominant @DISEASE$ (ADOA), also known as Kjer's syndrome, is a common hereditary cause of progressive bilateral @PHENOTYPICFEATURE$.	false
+8530c3126bc174703dce016805d8867ff4455c52	We report a case of orbital @DISEASE$ associated with localized lymphoma that presented with intractable dental @PHENOTYPICFEATURE$ and progressed to bilateral complete ophthalmoplegia.	false
+d2abfab912e3f70b0e93b5d7f4688cb3cd0e2476	Although about 10 to 15% of patients with @PHENOTYPICFEATURE$ (MM) develop @DISEASE$, liver-restricted fatal amyloidosis is rare.	false
+6b51228254e28777f8f0f5f187f7f1618b836e28	This study included 74 consecutive patients who were newly diagnosed with monoclonal gammopathies (MGs) including @PHENOTYPICFEATURE$ (MM), @DISEASE$, and light chain deposition disease (LCDD) between January 2014 and May 2015 at the First Affiliated Hospital of Zhejiang University.	false
+16e60aea4627a2943450d7dccae227a165a727ff	[Fatal hepatic failure due to @DISEASE$ in a patient with @PHENOTYPICFEATURE$].	false
+f5a16c63a17a0865fe71e914b5b37dd29dd91e84	We describe a case of @DISEASE$ (AL) with severe factor X (FX) deficiency in an amateur cyclist presenting with muscular @PHENOTYPICFEATURE$ at rest and ecchymoses in his legs.	false
+1fbea6aec6cde99c0167b0db238905dc44b591ec	@PHENOTYPICFEATURE$ and macroglossia in a woman with systemic @DISEASE$.	false
+c2b479b3d2df4d5b2f50954d09af5462e65c6a5a	Thus, the aim of this study was to assess the quality of internet material concerning paroxysmal episodes.We rated videos on YouTube for several conditions like infantile spasms, @PHENOTYPICFEATURE$, @DISEASE$, sleep myoclonus, and shuddering attacks.	false
+b1f63de60040340921f9a865e0fe46864c854ccc	During chemotherapy for childhood acute lymphoblastic leukemia, all organs can be affected by severe acute side effects, the most common being opportunistic infections, mucositis, central or @PHENOTYPICFEATURE$ (or both), bone toxicities (including osteonecrosis), thromboembolism, @DISEASE$, endocrinopathies (especially steroid-induced adrenal insufficiency and hyperglycemia), high-dose methotrexate-induced nephrotoxicity, asparaginase-associated hypersensitivity, pancreatitis, and hyperlipidemia.	false
+29c36543a42c62e48612b297b6b3ffe1c3458120	@PHENOTYPICFEATURE$ and allergic rhinitis in a patient with @DISEASE$.	false
+320f3f3e78d13ba3f287dee9cca6112625ccb5e0	However, individuals with both @DISEASE$ and moderate learning difficulties showed impaired memory for item in location information, suggesting that problems of binding may be generally associated with learning @PHENOTYPICFEATURE$.	false
+3021cec13a53f4681917f06db5c385cf89bf678e	@DISEASE$ (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning @PHENOTYPICFEATURE$, loquacious personality, and supravalvular aortic stenosis.	false
+54206b037e6cf81986cf2735fea484698593183f	The sociocommunicative abnormalities of young children with @DISEASE$ (WS) with limited language were compared with those of children with clinical diagnoses of autism, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), or nonspectrum developmental @PHENOTYPICFEATURE$.	false
+b94431ead6b45017a73884df021c19c89ee2fe12	Pragmatic language impairment and social deficits in @DISEASE$: a comparison with Down's syndrome and specific @PHENOTYPICFEATURE$.	false
+65485a1e897895f26fa11cb7253ab6fd4d382ce2	Supravalvular aortic stenosis (SVAS) represents a heterogeneous group, including @DISEASE$, familial elastin arteriopathy, @PHENOTYPICFEATURE$ cases, and others.	false
+4da6c295efc60332578c15c577dd9139c957ebe3	In particular, it was argued that individuals with @DISEASE$ have "intact" language despite @PHENOTYPICFEATURE$.	false
+3c492f9d4fd3610e5638fb29e83279400428e394	@DISEASE$ is a genetic disorder rarely associated with @PHENOTYPICFEATURE$.	false
+8743989f178b09ea964f7191938a83a539cce807	Intractable apnoeic @PHENOTYPICFEATURE$ in a child with a deletion typically associated with @DISEASE$.	false
+b0198fa5fe3fa0f45cee0e416f03d2e8fddd2b2e	Of the 46 patients who did not have @DISEASE$, 23 had @PHENOTYPICFEATURE$ SVAS, and 13 had familial elastin arteriopathy.	false
+c59513060fd03b0fc98c043b0844c029bbe36c53	@DISEASE$ (WS) is a neurodevelopment disorder associated with a hemizygous deletion on chromosome 7. WS is characterized with @PHENOTYPICFEATURE$ visual-spatial deficits, relative language preservation, and excellent facial recognition.	false
+98f1211fc4bca7a8ed4b6e6f2cc858b4fe338c89	The corresponding gene is imprinted maternally through an unknown mechanism and maps to 6q24-q25, within the minimal interval harboring the gene responsible for transient neonatal diabetes mellitus (@DISEASE$) and a @PHENOTYPICFEATURE$ suppressor gene involved in breast cancer.	false
+87e29abc6bbbe02eb9152f9fbc9856586adcac65	The corresponding gene is imprinted maternally through an unknown mechanism and maps to 6q24-q25, within the minimal interval harboring the gene responsible for @DISEASE$ (TNDM) and a @PHENOTYPICFEATURE$ suppressor gene involved in breast cancer.	false
+6282bff1c835953bc86f46f5d2750f28e8e1b93b	A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, dysmorphic facial features, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b1554127dded4cb665f511b3d1ff0ad6b322c495	AED is characterised by a triad of inability to sweat @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5174c3497050361670a241f775c042a8527dbd8d	[A new syndrome dyscephalia with bird-head and @PHENOTYPICFEATURE$, nanism, @DISEASE$, cutaneous atrophy, microphthalmia and congenital cataract].	false
+242b940b71e18852b9a0fd6cbb7609818fddb418	Patients show bird-like facies, @PHENOTYPICFEATURE$, and @DISEASE$ with various ophthalmic abnormalities.	false
+57ec294132e2015d75975ace51ad7a0f27a66651	A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (@DISEASE$ and structural changes), @PHENOTYPICFEATURE$, and onychodysplasia.	false
+0cfc079007afba4870d21f6ba8eb5cff531902fc	Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+fe409a75760e85050fb01bc8b6bf9dcb5775427e	It is characterised by the following: anhidrosis or hypohidrosis, @PHENOTYPICFEATURE$, @DISEASE$, and a characteristic facies.	false
+4790ae67b44d0a61027a0276e02dcde90b6b2ba2	Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0adb5cae185a8d756dc6eb9149a5dd63410da13e	[A new syndrome: cranial abnormalities with bird-like head & @PHENOTYPICFEATURE$, nanism, @DISEASE$, cutaneous atrophy, microphthalmia & congenital cataract].	false
+ddbee98dd27a14e6dc1dac0b927a9189c9ddb42d	Cases of the Hallermann-Strieff syndrome (a branchial arch syndrome) often present with ocular abnormalities in infancy but they also show a number of other abnormalities including a characteristic facial appearance, proportionate dwarfism, cutaneous atrophy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d155a627b21c8f991f2ca71d764f000793fbca07	This @DISEASE$/EOS patient presented with the unpainful soft swelling of the dorsal side of the wrist and ankles, as well as @PHENOTYPICFEATURE$ at the proximal interphalangeal joint that gradually appeared during their clinical course.	false
+47d5b87825a708b3126dfca7b1c043097431b4f9	HTPP is characterized by periodic occurrences of @PHENOTYPICFEATURE$ during attacks of @DISEASE$ and appears predominantly in Orientals.	false
+6afd5a1fc4fb0fbf79b4d8ea1df701b709e80d3e	@DISEASE$ is associated with @PHENOTYPICFEATURE$, abnormal aerobic metabolism and increased lactate production.	false
+86ba4369faad3d289fd0609dcea6f0f22433a631	, which mean that @DISEASE$ may be masking mild @PHENOTYPICFEATURE$.	false
+9c8b58fb426d4e2a488250685d165ccd7c1f8d01	Diazepam kinetics in patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+81e4bca8127da44e2004d43fdd2b802565f25d27	He had a previous diagnosis of secondary @DISEASE$ caused by @PHENOTYPICFEATURE$.	false
+bb42c1be9659c077a079e9876937d63113de0fc1	So, we made a diagnosis of familial essential @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c1ddb23ba714d06c77746d1acc8ba0871bac30ef	Thyrotoxic Periodic Paralysis (TPP) is a rare manifestation of @DISEASE$ characterized by @PHENOTYPICFEATURE$ and hypokalemia.	false
+2a68c57a920a1da7ba668c86a9de91bbb2515132	Congestive heart failure, @PHENOTYPICFEATURE$ cardiac ventricles, and sudden death in @DISEASE$.	false
+d703c188ce0d19591984f09d2ce2840f910f72af	Thyrotoxic periodic paralysis is a potentially life-threatening condition associated with recurrent episodes of @PHENOTYPICFEATURE$ and hypokalaemia due to @DISEASE$.	false
+4cdd0e20afb796bedb295752666472440c18d06f	Thyrotoxic periodic paralysis (TPP) is a rare manifestation of @DISEASE$ characterized by @PHENOTYPICFEATURE$ and hypokalemia.	false
+747f5557e3ee1a45f1d9dadb3e82fdeb0a4c3684	A family with dystonia associated with @DISEASE$ (DSH), @PHENOTYPICFEATURE$, and tissue calcification is described.	false
+3fbcde3fc608d41940ff716738e15bfaf1171d55	These findings suggest that a staged surgical approach is a technically feasible alternative in the treatment of severe congenital @DISEASE$ club @PHENOTYPICFEATURE$ in young children.	false
+1fad2f73583d198c3bbed03c24233e4bb5dbceca	4. Describe the management of five of the more common congenital hand anomalies (@PHENOTYPICFEATURE$, short digits, thumb duplication, hypoplastic thumb, and @DISEASE$ dysplasia).	false
+17c5d03dd0662b110ed500cb2c9ba09188a90337	To have a better understanding of classification of congenital @PHENOTYPICFEATURE$, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and @DISEASE$ deficiencies, cleft hand, symbrachydactyly and constriction band were reviewed.	false
+11058de4be74281aeb124e87ba7f8bbec69281af	The records of 27 patients with @DISEASE$ club @PHENOTYPICFEATURE$ attending the Hospital and Rehabilitation Centre for Disabled Children (HRDC) were reviewed.	false
+d0389873786d00438d03e388b019c9ecd3eb6f1a	Dystonia, @PHENOTYPICFEATURE$, and @DISEASE$ in a family with ADAR1 mutation.	false
+b10b178da99a7e46d5b9b5bc032c79e645742cb9	The MAC fixator seems to be a good alternative modality of stabilization and correction for severe congenital @DISEASE$ club @PHENOTYPICFEATURE$.	false
+7783d6e89183c4c50705c3f0a96a0ee3e73e0fcb	@DISEASE$ club-@PHENOTYPICFEATURE$.	false
+38bc303808e78f1de6918d9e5ae5bbff93e69369	polydactyly, thumb duplication, @PHENOTYPICFEATURE$ and @DISEASE$ aplasia, are already evident at birth and newborns are promptly referred to specialized departments.	false
+45995ed012e37e335c392179e773490ea986d02d	The arterial patterns of cleft hand were quite different from those with @DISEASE$ ray deficiency, but were rather similar to those of @PHENOTYPICFEATURE$.	false
+c62f01d0e8355a9bdda7114c37a4f07d354a3b33	@DISEASE$ associated with submucous @PHENOTYPICFEATURE$.	false
+96e43a7a25087db7f9c9cdab3303c2fb2d1d739a	Additional examples of Mendelian mutations associated with chromosome deletions and @PHENOTYPICFEATURE$ include @DISEASE$ with multiple exostoses and del(8)(q24.1),	false
+50bef3906f8b43d27ddf8556dd10d925b215a3e2	We report a 4-year-old girl with characteristic features of the Langer-Giedion syndrome (@DISEASE$) who also had submucous @PHENOTYPICFEATURE$.	false
+c3ac2498b86bdb753810f9697093a321da2e3547	We report a 4-year-old girl with characteristic features of the @DISEASE$ (trichorhinophalangeal syndrome type II) who also had submucous @PHENOTYPICFEATURE$.	false
+c62f01d0e8355a9bdda7114c37a4f07d354a3b33	@DISEASE$ associated with submucous @PHENOTYPICFEATURE$.	false
+ecfdff84de9421fe4967b6470c625867b11059d6	In the first series, @PHENOTYPICFEATURE$ produced with @DISEASE$ were treated with: 1) thiopental, 15 mg/kg IV bolus (controls); 2) thiopental, 27 mg/kg IV followed by 20.9 mg.kg-1.h-1	false
+a7986daf83b44bbd8adf005d306257bc03d70350	Diagnoses include @PHENOTYPICFEATURE$ (22), @DISEASE$ (7), other neuromuscular (10), and spina bifida (2).	false
+16f577077a38a0dfe3640c1e69f5bf172267fa09	We report a boy with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+53502df55fee91a632d698476b7e8fc5b2753af5	In this study, we set out to reject the hypothesis that @DISEASE$ and autism spectrum disorder/@PHENOTYPICFEATURE$ co-occur no more often than expected by chance.	false
+4c69eff793edab8ba1cadd223247f1886c74fbc3	We hypothesize that @DISEASE$ and autism spectrum disorder/@PHENOTYPICFEATURE$ co-occur with a greater than random frequency.	false
+150cb666072c53e9cbefd14490dc05192f16b7bb	This concept is potentially valuable in describing the clinical symptomatology of dystonia musculorum deformans (@DISEASE$) and other @PHENOTYPICFEATURE$.	false
+ac795a4b6abb932c879f0d764aa81e1c6c734b2c	Duchenne muscular dystrophy (@DISEASE$) is the most frequent skeletal muscle @PHENOTYPICFEATURE$.	false
+cbd07ca3e72a7cb67ea547169a44b960aaa61b9b	@DISEASE$ (DMD) is the most frequent skeletal muscle @PHENOTYPICFEATURE$.	false
+c47e39091f80d9cb847b1eb7930ea6eed3d17d90	A family with @PHENOTYPICFEATURE$ and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene @DISEASE$ and TRPM3.	false
+5bbcfdd052cbf28dcb2ad5e6571857018a8e9f92	The subjects consisted of 26 patients with DAT, 15 with cerebrovascular dementia, 10 with mixed type @PHENOTYPICFEATURE$, 2 with Down syndrome, 17 with Parkinson disease, 14 with spinocerebellar degeneration, 14 with cerebrovascular disease without dementia, 12 with @DISEASE$ and 77 normal controls.	false
+676a7867228aac93497a97ecd7da4f7906719122	The subjects consisted of 26 patients with DAT, 15 with cerebrovascular @PHENOTYPICFEATURE$, 10 with mixed type dementia, 2 with Down syndrome, 17 with Parkinson disease, 14 with spinocerebellar degeneration, 14 with cerebrovascular disease without dementia, 12 with @DISEASE$ and 77 normal controls.	false
+98e75f45d75792d3e0ee290090b52e489a92848e	Palmitate oxidation was significantly less than normal (P less than or equal to 0.01) in @DISEASE$, congenital nonprogressive @PHENOTYPICFEATURE$, congenital muscular dystrophy, malignant hyperpyrexia, and denervation, depending on the internal reference used.	false
+e2be1385f50349b8e879769d4707c6298e968fdf	Dystonia musculorum deformans (@DISEASE$) is an idiopathic @PHENOTYPICFEATURE$ which usually involves pediatric age group and progresses to the generalized type.	false
+ffe68412701e42e349e49defd47a652d5e50b33e	We retrospectively analyzed the peri-operative data from 10 patients with early @PHENOTYPICFEATURE$ (stage 1-4) who underwent liver resection for @DISEASE$ between February 2004 and July 2005.	false
+53057b61f0709ea8d7da1aab3e2368b200a813fb	[Thyroxine-binding globulin--not a @PHENOTYPICFEATURE$ marker of @DISEASE$].	false
+ce17669e4ca0ceb3da52f6b1ea5e877919399e12	RVT is an important determinant of @PHENOTYPICFEATURE$ recurrence after liver transplantation performed for @DISEASE$.	false
+03bbe3b69bd776aa73a1b824aa4babc48e9d5d92	@DISEASE$ response to radiofrequency @PHENOTYPICFEATURE$ ablation: contrast-enhanced ultrasound.	false
+65fad490a83d3b687682a379bb93eb518589b240	@DISEASE$ (HCC) is a well-established, highly angiogenesis-dependent hypervascular @PHENOTYPICFEATURE$.	false
+4336b3471cc73da0df084a0cf20b34c0820a8cf7	Liver transplant for @DISEASE$: very small tumors, very large @PHENOTYPICFEATURE$, and waiting time.	false
+f1f3cc6ac3cc5c6ba92df4de7e257dc1d7d9a18c	Liver transplant for @DISEASE$: very small @PHENOTYPICFEATURE$, very large tumors, and waiting time.	false
+aa90ac044621f3a3602b53318eed4469f4ea07b1	Serotonin promotes @PHENOTYPICFEATURE$ growth in human @DISEASE$.	false
+b362141fe5f9917788f7fed1b5708b26936e19d1	Primary @DISEASE$ is the fifth most common solid @PHENOTYPICFEATURE$ worldwide.	false
+656d88a426aab487351f11003b60fd95985ff5a3	MYC inactivation uncovers pluripotent differentiation and @PHENOTYPICFEATURE$ dormancy in @DISEASE$.	false
+6af9937d7c605c2706a3368056e1873fc534b1a0	Among those with HBV, significant factors associated with mortality included @PHENOTYPICFEATURE$, @DISEASE$, respiratory failure, ascites, coagulopathy and acute liver failure.	false
+fa9354ecc4978ffab70d15e76cf665bee142a377	The condition of newborn infants with @DISEASE$, a @PHENOTYPICFEATURE$, is incurable and uniformly fatal.	false
+3f1c09deecaffd33f44bfda76cd8ba02e8178964	Infants with omphalocele, @DISEASE$, gastroschisis, and renal agenesis were more likely to have abnormal prenatal ultrasounds than those with cleft and @PHENOTYPICFEATURE$.	false
+c4a4738f8245f1fb9804f0bf9dc58e0e81c605fc	A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial @PHENOTYPICFEATURE$, @DISEASE$.	false
+396f5742f4857a819c15c47e647c8dba5b1e1bb5	associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6bc3965fed9494340a13f07cb0fe172ceea7c069	Search terms included folate, folic acid, @PHENOTYPICFEATURE$, spina bifida, and @DISEASE$.	false
+152e7d40c8ef418e59d0bcdbfdc20f790c99d495	Our presented case of MGS is associated with @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+a2a705cb906c2bf4ec16d0eba9c064a9b3f7db07	Spina bifida and @DISEASE$, the common form of @PHENOTYPICFEATURE$, affect approximately 300 000 newborns each year worldwide.	false
+5b060e3f5b187581d1f9b11b7daf7778f39a2436	The cranial base in @DISEASE$ and @PHENOTYPICFEATURE$ studied histologically.	false
+05ea28a232dac7164f2eca1c5a231c8e887e0bd7	Eight women had fetuses with open @PHENOTYPICFEATURE$; four with @DISEASE$ were associated with very high alpha-fetoprotein values.	false
+ab5f056bf580ad6c6fd2b82fb608e38511d08862	Atelencephalic @PHENOTYPICFEATURE$: craniofacial anatomy and morphologic comparisons with holoprosencephaly and @DISEASE$.	false
+c91f43efccd2dda7ba1bbe5494355640b8f42847	Of the 17 patients with @DISEASE$, 5 were neurologically asymptomatic, 3 had cerebellar signs, 1 exhibited a mild parkinsonian syndrome, 7 showed a parkinsonian syndrome and @PHENOTYPICFEATURE$, and 1 had generalized dystonia and a parkinsonian syndrome.	false
+6d085b39ff1c1c3ad730674c56ce72c5f1b42f0a	Of the 17 patients with @DISEASE$, 5 were neurologically asymptomatic, 3 had @PHENOTYPICFEATURE$, 1 exhibited a mild parkinsonian syndrome, 7 showed a parkinsonian syndrome and cerebellar signs, and 1 had generalized dystonia and a parkinsonian syndrome.	false
+d103e0044a1fbb37905f4a05e08b0bdb74270822	@DISEASE$ presenting with hypokalemia, hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+848f71cffbadd1319af56f210a3c155c082252ba	In @DISEASE$, an abnormal striatum depicted on MR images correlated with pseudoparkinsonian signs, an abnormal dentatothalamic tract correlated with @PHENOTYPICFEATURE$, and an abnormal pontocerebellar tract correlated with pseudoparkinsonian signs.	false
+eb35587eb4725823bb476b4a334bdd030fb85b28	Fulminant hepatic and @PHENOTYPICFEATURE$ complicating @DISEASE$.	false
+483f0bc90c6e792724461fb0b71b5bea6f864077	A clinical analysis of myoclonus epilepsy (Unverricht-Lundborg), @PHENOTYPICFEATURE$ cerebellar dyssynergy (Hunt) and @DISEASE$ (Wilson).	false
+3ce8851fe36780d288400773ea8befc5bb70a5a8	Abnormal function of these transporters results in diseases like @DISEASE$, progressive familial @PHENOTYPICFEATURE$ syndromes, Dubin-Johnson syndrome and cystic fibrosis.	false
+88237b69a6e85a54d60e2e5a48e02b469c916aa6	@PHENOTYPICFEATURE$, present in 45% of patients with fulminant @DISEASE$, resolved post-OLT with supportive care.	false
+8e8aac3fede130a855619e97fe89e6101b5ee1e0	Rarely, @DISEASE$ can present as fulminant hepatic failure with direct antiglobulin test-negative hemolytic anemia and @PHENOTYPICFEATURE$.	false
+94b586dd13745036a7c8331c5bb9660e5f6ffae1	[@DISEASE$ presenting as fulminant hepatic failure, acute hemolytic anemia and @PHENOTYPICFEATURE$: report of one case].	false
+a7b27d8d5e4e673fcd5ab8e75784c3774abba5e6	@DISEASE$ presenting as fulminant hepatic failure, severe hemolysis and @PHENOTYPICFEATURE$ is rare in the literature.	false
+8fd0ed395fc73d6c6f1636ab3861782c78b33509	A new case of late onset @DISEASE$ without @PHENOTYPICFEATURE$.	false
+4278584e0fb3baaefa84e6f98a2c4e2bf0bd4861	Our results identify the POMC-null mutant mouse as a model for studying the human POMC-@DISEASE$, and indicate the therapeutic use of peripheral melanocortin in the treatment of @PHENOTYPICFEATURE$.	false
+0d3c957e92fa2ca203a6a92fe8205fe798243890	We report a family of Indian origin presenting with @DISEASE$ (TCC), which is a rare genetic disorder of @PHENOTYPICFEATURE$, inherited in autosomal dominant manner.	false
+e633f9894d290730953c78eeb4a11d9da1976d42	One of them, perillyl alcohol (@DISEASE$), displays @PHENOTYPICFEATURE$ chemopreventive, chemotherapeutic, and antiangiogenic properties.	false
+0e14288326e052c2d054b26e4da3ae1c544259fc	Topical @DISEASE$ significantly inhibited tumor incidence and multiplicity, average @PHENOTYPICFEATURE$ size, and the average tumor burden/mouse without any apparent toxicity.	false
+9a1e4d98ecfaec0486d7ee587ea28662c3554169	Topical @DISEASE$ significantly inhibited @PHENOTYPICFEATURE$ incidence and multiplicity, average tumor size, and the average tumor burden/mouse without any apparent toxicity.	false
+3084bfa59891f2b884cfa53bab1048edd330f26d	Topical @DISEASE$ significantly inhibited tumor incidence and multiplicity, average tumor size, and the average @PHENOTYPICFEATURE$ burden/mouse without any apparent toxicity.	false
+7f51fda267a6bc931e7239f0dadb4647cff7f1f6	Cerebellar mutism syndrome (@DISEASE$) comprises a complex set of neurologic and neurocognitive signs and symptoms, the cardinal and central component of which is an initially profound but usually reversible @PHENOTYPICFEATURE$.	false
+91bee10f462021798337662b98654aeb850f69b7	If individuals cannot acclimatize to high altitude, they may suffer from a high-altitude disease, such as acute mountain disease (AMS), high-altitude @PHENOTYPICFEATURE$ (HAPE), high-altitude cerebral edema (HACE) or chronic mountain sickness (@DISEASE$).	false
+8b50e6ffd5fbab304641b0576eed10e33b64abec	We found that SMA syndrome and @DISEASE$ are similar regarding (1) surgical causation; (2) symptoms including @PHENOTYPICFEATURE$, disturbance in motor function and facial dysfunction; (3) delayed onset; (4) the courses of the syndromes are transient; and (5) long-term sequelae are seen in both.	false
+e78e73774a5d1a3e6da9c0292b843363952033b9	The severity of several additional diseases of high attitude may also be reduced by acetazolamide, including high altitude cerebral edema (HACE), high altitude @PHENOTYPICFEATURE$ (HAPE) and chronic mountain sickness (@DISEASE$), both by its CA-inhibiting action as described above, but also by more recently discovered non-CA inhibiting actions, that seem almost unique to this prototypical CA inhibitor and are of most relevance to HAPE.	false
+8a9e38539688d924de9f4649d8fbb00f91bd045c	The acute forms of these debilitating and potentially fatal conditions, which include acute mountain sickness (AMS), high altitude @PHENOTYPICFEATURE$ (HAPE), and high altitude cerebral edema (HACE), often develop in incompletely acclimatized lowlanders shortly after ascent, whereas, the chronic conditions, such as chronic mountain sickness (@DISEASE$) and high altitude pulmonary hypertension (HAPH), usually afflict native or long-term highlanders and may reflect a loss of adaptation.	false
+ec6aaf06de107acb50553417f30e31091f1d272c	Chronic mountain sickness (@DISEASE$) and high altitude @PHENOTYPICFEATURE$ (HAPE) each occur rarely in Tibetans, and they have previously not been reported in the same person.	false
+8c195a19849af5e2418dfae482c69845ef5fd0d6	Examination revealed green irides with marked transillumination, @PHENOTYPICFEATURE$ fundi and @DISEASE$.	false
+beedfda0fecc8d4dba8510cc1272c8a4b7d1c93d	Chiasmal misrouting and @DISEASE$ without @PHENOTYPICFEATURE$.	false
+28ae388d056f29f16f8b13010b16c5c2888eed4e	Oculocutaneus albinism is a pigment-related inherited disorder characterized by @PHENOTYPICFEATURE$, hair and eyes, @DISEASE$ and low vision.	false
+ac9d2e7e7aae165857c8663642aa3796c9f28386	Oculocutaneus @PHENOTYPICFEATURE$ is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, @DISEASE$ and low vision.	false
+31eb9ef3149789a1c9a9d5e05a365b08fb4d467d	Oculocutaneous @PHENOTYPICFEATURE$ is defined by the presence of cutaneous and ocular hypopigmentation, the latter associated with nystagmus, iris transillumination, reduced retinal pigment, @DISEASE$, and misrouting of the optic fibers at the chiasm.	false
+9d65edcf80ffe449243f7fcbd6a52ab8df24dbd2	Oculocutaneous albinism is defined by the presence of cutaneous and ocular @PHENOTYPICFEATURE$, the latter associated with nystagmus, iris transillumination, reduced retinal pigment, @DISEASE$, and misrouting of the optic fibers at the chiasm.	false
+3b980c21fc9dba8b277e4de7f63ee33f3b09d04d	@DISEASE$ in oculocutaneous @PHENOTYPICFEATURE$ demonstrated by optical coherence tomography.	false
+933643ddab800f469563cde9f0af1d34a446922c	Choroidal neovascularization in an eye with @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+eb2900187d77708b377ce2fbc53b3e597b473681	@DISEASE$ in complete oculocutaneous @PHENOTYPICFEATURE$.	false
+f135d93b3ebff70a4cd067d261e541e3ef6c10e5	Foveal hemorrhage in an eye with @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+9ed7e4821d284c038737e738f368703148dec194	In the genetic condition of @PHENOTYPICFEATURE$, hypopigmentation related to neural ectoderm derivatives is associated with reduced visual acuity, @DISEASE$, and aberrant retinogeniculocortical projections.	false
+52d4d61564c319d3d0f5b389cf555891575a4401	In the genetic condition of albinism, @PHENOTYPICFEATURE$ related to neural ectoderm derivatives is associated with reduced visual acuity, @DISEASE$, and aberrant retinogeniculocortical projections.	false
+f0539ffbd95b19e9657e03416aed781a012d624e	A hallmark of @PHENOTYPICFEATURE$ is @DISEASE$.	false
+fd960c5be06c5311c6f55fc8ec06bd2af465862a	@DISEASE$ is a @PHENOTYPICFEATURE$ constituted by Schwann's cells, that causes non-specific clinical manifestations.	false
+346350e77f3e6313da12424491cce425f1fa78c0	The differential diagnosis includes @DISEASE$, solitary neurofibroma, neurofibromatosis, neuro-muscular @PHENOTYPICFEATURE$, and benign myxoid tumours.	false
+fd721e918b462ba9292bc2de04c17f02ee4aa5da	These included seven leiomyomas, five adenomatous polyps, two Peutz-Jeghers hamartomas, one myoepithelial @PHENOTYPICFEATURE$, one lipoma, one Brunner's gland adenoma and one @DISEASE$.	false
+08a6910dce0d093aded77840fcc0911c4e70e944	Herein, we report a case of @DISEASE$ arising from the olfactory groove in a 16-year-old girl who presented with @PHENOTYPICFEATURE$ without olfactory dysfunction or other neurologic deficits.	false
+2992e594599a67f68449339fc59eeedfae3f24e2	Clinical neurologic examination immediately led us to suspect a neurologic aetiology in two patients with the following signs: perineal @PHENOTYPICFEATURE$, absence of voluntary anal contraction and anal reflexes in one subject (final diagnosis: L1 @DISEASE$), and in the other a weakness in both thighs with absent tendon reflexes in the four limbs (final diagnosis: amiodarone neuropathy).	false
+98672dbf624811c5ab52903fe309455144e358bc	The benign specific group included entities such as fungus, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+23e1844086a6326771aecc316faafc4bd9aaad9f	In contrast, glioblastoma, astrocytoma, oligodendroglioma, ependymoma, meningioma, @DISEASE$, pituitary adenoma, craniopharyngioma, hemangioblastoma, @PHENOTYPICFEATURE$, lymphoma and mesenchymal tumor were all negative.	false
+8da19a98e0dbd0c941cdef27556c483e4db63456	Fluorescein-guided excision of a pediatric intraparenchymal @DISEASE$ presenting with seizure and neurogenic @PHENOTYPICFEATURE$.	false
+5ddffe3f973b0aa0d224ae5cd22715055e5309f7	A 38-year-old female presented with a trigeminal @DISEASE$ manifesting as left facial @PHENOTYPICFEATURE$.	false
+0c8f0440695dac1052ff0cee902afd1d90fa4f82	The indications included splenomegaly of unknown origin, splenic cysts, benign tumors (@PHENOTYPICFEATURE$), and metastasis from ovarian carcinoma and @DISEASE$.	false
+0830c4d189bfec24125a82d0a3fd6b8c7423e357	Defects in SHOX or its enhancers have been observed in ?60% of Leri-Weill dyschondrosteosis (LWD) patients, a @PHENOTYPICFEATURE$ characterised by short stature and/or the characteristic @DISEASE$, and in 2-5% of idiopathic short stature (ISS).	false
+cf920839a1f9023959baa08f66077d09a39ac20a	L?ri-Weill dyschondrosteosis (LWD) is a @PHENOTYPICFEATURE$ characterized by disproportionate short stature and @DISEASE$.	false
+c5f4bc93a6dfb79507915c8ca77472da40dd9088	@DISEASE$ inhibited @PHENOTYPICFEATURE$ in FeCl3-induced epileptic rats and improved their behaviour.	false
+858c5b50796656d21aa2906641eab311982a61a6	This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of @DISEASE$ and T22, and some cases of @PHENOTYPICFEATURE$ with rather unspecific symptoms are variants of the same disease entity.	false
+82269f52d09c487bc7ade6cefcd3ea0eb5cee6b1	This report presents presumptive evidence that the @DISEASE$ (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of @PHENOTYPICFEATURE$ with rather unspecific symptoms are variants of the same disease entity.	false
+cff1287b9478588bb784d3046cbaa47a05b5ed1b	This report presents presumptive evidence that the cat eye syndrome (@DISEASE$), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of @PHENOTYPICFEATURE$ with rather unspecific symptoms are variants of the same disease entity.	false
+cbcef27835418a453f735644e1133f3d53990aef	While the majority of the patients were known seizure cases, no patient suffered a @PHENOTYPICFEATURE$ during @DISEASE$ therapy.	false
+3a8c003e0408a04a0ca52de61fcdd0c6613a245b	While the majority of the patients were known @PHENOTYPICFEATURE$ cases, no patient suffered a seizure during @DISEASE$ therapy.	false
+25935c935611ca61196e7ef2bc6c863d5d8e7da4	@DISEASE$ significantly decreased the number and grade of @PHENOTYPICFEATURE$, and improved rat behaviour, compared with untreated epileptic rats.	false
+634c8688ed9a20e3292030fd86d8e57c9c12440c	EEGs demonstrated epileptic spikes and spike series in the majority of rats experiencing CES, and 57% of @DISEASE$ rats developed @PHENOTYPICFEATURE$: Behavioral events resembling the human age-specific epilepsy infantile spasms occurred in 11/23 (48%), accompanied by EEG spikes and/or electrodecrements, and two additional rats (9%) developed limbic seizures that involved the amygdala.	false
+c826b8a654a4d27670d135839508de57c603ae26	EEGs demonstrated epileptic spikes and spike series in the majority of rats experiencing @DISEASE$, and 57% of CES rats developed seizures: Behavioral events resembling the human age-specific epilepsy infantile spasms occurred in 11/23 (48%), accompanied by EEG spikes and/or electrodecrements, and two additional rats (9%) developed limbic @PHENOTYPICFEATURE$ that involved the amygdala.	false
+dadca9d2979cff97184ae4bb4bbca0810b788d34	EEGs demonstrated epileptic spikes and spike series in the majority of rats experiencing CES, and 57% of @DISEASE$ rats developed seizures: Behavioral events resembling the human age-specific epilepsy infantile spasms occurred in 11/23 (48%), accompanied by EEG spikes and/or electrodecrements, and two additional rats (9%) developed limbic @PHENOTYPICFEATURE$ that involved the amygdala.	false
+649ba680da0b338a6c522cf0113d6f8957a4413c	EEGs demonstrated epileptic spikes and spike series in the majority of rats experiencing @DISEASE$, and 57% of CES rats developed @PHENOTYPICFEATURE$: Behavioral events resembling the human age-specific epilepsy infantile spasms occurred in 11/23 (48%), accompanied by EEG spikes and/or electrodecrements, and two additional rats (9%) developed limbic seizures that involved the amygdala.	false
+a98bb27af5fbc0d88c76fff4523cf0b2cb26d749	57 consecutive patients (mean age 76.7 years) with chronic heart failure underwent physical examination, blood chemistry, urinalysis, chest radiography ECG, Doppler echocardiography, and the mini mental state examination (MMSE), @PHENOTYPICFEATURE$ battery, depression scale of the Center for Epidemiological Studies (@DISEASE$-D), Katz activities of daily living, and instrumental activities of daily living 24 hours before hospital discharge.	false
+b25f460b469711c0a8b358727084c8b718003e4d	Childhood Electroclinical Syndromes (@DISEASE$) are epilepsies occurring in childhood with certain common features such as age of onset, types of @PHENOTYPICFEATURE$, electroencephalographic (EEG) characteristics, response to antiepileptic drugs (AEDs) and outcome.	false
+db2184003741f17a2114950a3159b4800927ba3d	Depending on the type of @PHENOTYPICFEATURE$, the cases were classified as either convulsive ES (@DISEASE$) or non-convulsive ES (NCES).	false
+fdafc2eb82b0fb4d0c7e3c71307fa676f2b1c1d2	This study evaluates the diagnostic value of a witness-questionnaire in distinguishing between convulsive @PHENOTYPICFEATURE$ (@DISEASE$) and convulsive nonepileptic seizures (CNES).	false
+d419381209b99b2ae68cadbbcae6f21a258c221c	This study evaluates the diagnostic value of a witness-questionnaire in distinguishing between convulsive epileptic seizures (@DISEASE$) and convulsive nonepileptic @PHENOTYPICFEATURE$ (CNES).	false
+3937fe4892ac70eaed8627f761f3ebff65c9a1e8	Additionally, the patient had antimongoloid slant of the eyes, epicanthal folds, preauricular sinuses, cardiac malformations, skeletal malformations, and @PHENOTYPICFEATURE$ suggestive of the @DISEASE$.	false
+a7d2508abd1bd29314d821529039c8e2f1584140	[Treatment of @PHENOTYPICFEATURE$ in @DISEASE$--a case report].	false
+46dbb77db9254c0ced09899990ced4d4d9425021	The expression 'club foot', generally used for the @PHENOTYPICFEATURE$ in @DISEASE$ is a misnomer.	false
+4053e9cb96c0e1095e05d89dcfc0716f1fac97fd	This study was undertaken to evaluate the number of the immunoglobulin producing cells in the lamina propria of the small intestine by immunocytochemical techniques, using peroxidase-antiperoxidase (PAP) complex in normacid patients with @DISEASE$. 25 patients were studied including 13 patients with bacterial @PHENOTYPICFEATURE$, where the bacterial concentration was higher than 10(4) colony forming units/ml, and 12 subjects with normal bacterial concentration, served as control.	false
+63a380cb11dd8b1dc7c13bf0ad92961bbfc8d34d	Disproportionately @PHENOTYPICFEATURE$ and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from @DISEASE$ (SED) congenita during infancy.	false
+077da968a799dd09a17862586614b52072c9452e	Additionally, a new syndrome has been reported in children with @PHENOTYPICFEATURE$ who exhibited developmental regression and gastrointestinal symptoms (autistic @DISEASE$), in some cases soon after MMR vaccine.	false
+c6438a50137faf630e37781b8230993a52bf394f	In 1998, Dr. Andrew Wakefield, a British gastroenterologist, described a new @PHENOTYPICFEATURE$ phenotype called the regressive autism-@DISEASE$ syndrome triggered by environmental factors such as measles, mumps, and rubella (MMR) vaccination.	false
+13179f3d8d9657d0ea34961deb0a107edc970a0c	In 1998, Dr. Andrew Wakefield, a British gastroenterologist, described a new autism phenotype called the regressive @PHENOTYPICFEATURE$-@DISEASE$ syndrome triggered by environmental factors such as measles, mumps, and rubella (MMR) vaccination.	false
+b63104f0442c7d187352efba3f55702b78ffa718	If this new "autistic @DISEASE$" syndrome had some validity, then 1 or several of the following 6 predictions should be supported by empirical data: 1) childhood disintegrative disorder has become more frequent, 2) the mean age of first parental concern for autistic children who are exposed to MMR is closer to the mean immunization age than in children who are not exposed to MMR, 3) regression in the development of children with @PHENOTYPICFEATURE$ has become more common in MMR-vaccinated children, 4) the age of onset for autistic children with regression clusters around the MMR immunization date and is different from that of autistic children without regression, 5) children with regressive autism have distinct symptom and severity profiles, and 6) regressive autism is associated with gastrointestinal symptoms and/or inflammatory bowel disorder.	false
+6200784c1fc03238c173ba0c71da93575694d6bc	If this new "autistic @DISEASE$" syndrome had some validity, then 1 or several of the following 6 predictions should be supported by empirical data: 1) childhood disintegrative disorder has become more frequent, 2) the mean age of first parental concern for autistic children who are exposed to MMR is closer to the mean immunization age than in children who are not exposed to MMR, 3) regression in the development of children with autism has become more common in MMR-vaccinated children, 4) the age of onset for autistic children with regression clusters around the MMR immunization date and is different from that of autistic children without regression, 5) children with regressive autism have distinct symptom and severity profiles, and 6) regressive @PHENOTYPICFEATURE$ is associated with gastrointestinal symptoms and/or inflammatory bowel disorder.	false
+ada12f1d0eb228379c9e9b2ff24386dcdefea8f1	If this new "autistic @DISEASE$" syndrome had some validity, then 1 or several of the following 6 predictions should be supported by empirical data: 1) childhood disintegrative disorder has become more frequent, 2) the mean age of first parental concern for autistic children who are exposed to MMR is closer to the mean immunization age than in children who are not exposed to MMR, 3) regression in the development of children with autism has become more common in MMR-vaccinated children, 4) the age of onset for autistic children with regression clusters around the MMR immunization date and is different from that of autistic children without regression, 5) children with regressive @PHENOTYPICFEATURE$ have distinct symptom and severity profiles, and 6) regressive autism is associated with gastrointestinal symptoms and/or inflammatory bowel disorder.	false
+9ebad4ad1d1d210176714d0e5dd05f373fe8f9a0	Patients with Campylobacter @DISEASE$ may come to laparotomy due to the severity of @PHENOTYPICFEATURE$ and signs, although only two patients with intestinal inflammation have been described and in neither was the histopathology documented.	false
+45d634de564b4e87f8b9e15143e5bdd04d13d3b5	We found that @DISEASE$ syndrome and CMS are similar regarding (1) surgical causation; (2) symptoms including @PHENOTYPICFEATURE$, disturbance in motor function and facial dysfunction; (3) delayed onset; (4) the courses of the syndromes are transient; and (5) long-term sequelae are seen in both.	false
+01a2b984a99dcb68e5d1f1e7de19cecc6666e43b	Supplementary motor area (@DISEASE$) syndrome occurs after surgery involving the SMA and is characterized by contralateral hemiparesis with or without @PHENOTYPICFEATURE$ (dependent on involvement of the dominant SMA), which is transient and characteristically resolves over the course of weeks to months.	false
+504db63d69a6a14873df59ba7988fb84cee0ce1f	@DISEASE$ in an extreme preterm baby with bilateral @PHENOTYPICFEATURE$.	false
+504db63d69a6a14873df59ba7988fb84cee0ce1f	@DISEASE$ in an extreme preterm baby with bilateral @PHENOTYPICFEATURE$.	false
+49c24774fc2ceab1c09f5e9569df947727c62d12	Entities such as leiomyomas, nerve sheath tumors, congenital @DISEASE$, and @PHENOTYPICFEATURE$ (ovarian torsion or iliac vessel aneurysm) in particular are often accurately characterized with sonography and/or MRI.	false
+6d8bfd99cc1d0998a27121efa9a010be8af2c128	@DISEASE$ Reversibility of @PHENOTYPICFEATURE$ with zinc therapy.	false
+610586d1b2f233fdcca7e8c926f43c7c6d1cc288	A patient with @DISEASE$ combined with @PHENOTYPICFEATURE$ and several congenital anomalies including cleft palate, dwarfism, microcephaly and right hydrocele testis is described.	false
+aeb4d5530f9f42757160cf4c9ebc67d8a511df5f	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric @PHENOTYPICFEATURE$, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, @DISEASE$, and posterior microphthalmos), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and telecanthus, familial retinal arterial macroaneurysms, and spherophakia with short stature).	false
+e5e8155d6fc3d295f85bbe8c4e528ae80dde1afa	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, @DISEASE$, and posterior @PHENOTYPICFEATURE$), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and telecanthus, familial retinal arterial macroaneurysms, and spherophakia with short stature).	false
+09a7d495d5a83977e971d8e4a8ef7043c1946800	Analysis of associations of COCA with various other congenital cardiovascular lesions showed, in addition, significant association with congenital polyvalvular disease, @PHENOTYPICFEATURE$, aorticopulmonary window, trisomy 13, 18, and 21 syndromes, acrocephalosyndactyly (especially @DISEASE$), tetralogy of Fallot not associated with DiGeorge anomaly, and clinical Noonan phenotype.	false
+aac948d6655b273373fab2ac375d6e8e5dfaf5d9	Two unrelated female patients with clinical findings of @DISEASE$-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, @PHENOTYPICFEATURE$ and symmetrical syndactyly of the hands and feet-are present.	false
+d056e5345afa512485abe0052bbb1cb00a1e6b40	@DISEASE$ patients are different in clinical pathology, including @PHENOTYPICFEATURE$, cleft palate, and mental deficiency.	false
+b8248a0e854ff6e5b0c8e58f4de77569394767da	The patient had a past history of @DISEASE$, a rare autosomal dominant inherited condition characterised by craniosynostosis, facial dysmorphia, syndactyly of the hands and feet and @PHENOTYPICFEATURE$.	false
+19f641c07ac6abdf21f3c6292fafb7aa6e082182	Prevalence and severity of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e151d3bd66895f425a036a6b877c6846a9462079	Homocysteine levels in plasma and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+1eb4f436681bf3fa61d8d609518f888c23a468d9	@DISEASE$ related to @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+c2b0e2e2a73665b3b4d7447c1b45690a23258ba6	Some diseases, such as Reye's syndrome, vascular occlusion, @PHENOTYPICFEATURE$, hemorrhage of the thalamus, @DISEASE$, or Leigh and Wernicke encephalopathies must be differentiated clinically, radiologically, or pathologically.	false
+6f924802043281435fbcebfb8b29fe44e42021a0	Deletion of @PHENOTYPICFEATURE$ necrosis factor-? ameliorates neurodegeneration in @DISEASE$ mice.	false
+42e8bcb150a2a6e922a23712244298cdfb8f6999	Feeding and @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+792bc12c680d977907bfb5ead7c2a010e260e660	Bilateral femoral neck fractures resulting from a @PHENOTYPICFEATURE$ in an elderly man with @DISEASE$.	false
+862309222618dbc0b42bb2d935209271718aca3d	Pharyngeal @PHENOTYPICFEATURE$ (PD) in children with @DISEASE$ (DS) has not been examined.	false
+04d0ddae18ba8f4ac5a0f6812255b0e063a3a624	[Respiratory insufficiency, @PHENOTYPICFEATURE$ and diarrhea in a @DISEASE$ patient].	false
+72e4ba670f6ef76eb7736aa4ffe4c6e3151e4fcd	Pharyngeal @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+c46b6c116a1202e795b97219dd4087e9d1215b97	@PHENOTYPICFEATURE$ and associated neurological complications in individuals with @DISEASE$.	false
+2dbead71ecd9e4a470a8c8f6d2b3eaab0f97e16c	@DISEASE$ (DS) is associated with @PHENOTYPICFEATURE$ that cannot be explained by motivational or attentional factors.	false
+7726d4377d8b82f8a810c9934209aa74245b42a6	Thiabendazole-associated @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+5725c00e9294c719383be0e70204d94f49bc0816	Bordetella bronchiseptica @PHENOTYPICFEATURE$ in a patient with @DISEASE$: a case report and review.	false
+a49f7cba242f1444aff94d88a1bd0455da18463a	Data obtained concerning Hepatitis B as a possible couse of @DISEASE$, neonatal @PHENOTYPICFEATURE$, and the occurrence of Hepatitis A and B in institutionalized Down's syndrome and matched non-Down's syndrome retarded patients was summarized.	false
+483ddba9028c05dca5c39c8fc0ce1713f6664279	Data obtained concerning Hepatitis B as a possible couse of Down's syndrome, neonatal @PHENOTYPICFEATURE$, and the occurrence of Hepatitis A and B in institutionalized Down's syndrome and matched non-@DISEASE$ retarded patients was summarized.	false
+2c78496d6d2abed3a09f56a210720ba58864c982	Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 @DISEASE$ and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem malformation, hypotonia, developmental delay, @PHENOTYPICFEATURE$, and sometimes associated with cognitive impairment.	false
+40dbc84e54b4f7bd8cbf1a4bcfea2eb02c53ba83	Humans with @DISEASE$ develop a large number of extrarenal manifestations, including situs variations, anomalies of the hepatobiliary system, retinal degeneration and @PHENOTYPICFEATURE$.	false
+7c5ed92a3d8095189e859d87cd755cb6ff34ca7d	The study subgroup consisted of patients with facial @PHENOTYPICFEATURE$ and migraine excluding cluster headache and @DISEASE$.	false
+0224d6586b6190e2ab3db8b50c04bd6932af61e9	The aim was therefore to estimate the incidence rate (IR) of trigeminal neuralgia (TGN), postherpetic neuralgia (PHN), cluster headache (CH), occipital neuralgia (ON), local neuralgia (LoN), atypical facial @PHENOTYPICFEATURE$ (AFP), glossopharyngeal neuralgia (GPN) and @DISEASE$ (PH) in the Netherlands.	false
+99be5ae8213424ba573734b784e839b438fb3702	Primary vascular-type craniofacial @PHENOTYPICFEATURE$ includes migraine, cluster headache, and @DISEASE$.	false
+dc9100e2218a31a3e6b42f782bdce92e682c5422	Hemicranias are an uncommon type of headache characterised by strictly unilateral @PHENOTYPICFEATURE$, either as a continuous, although fluctuating, headache in hemicrania continua (HC) or in the form of recurring attacks in @DISEASE$ (PH).	false
+ee8aa1ec4fe72d780966b69bb2e30034ce90d6c8	To explore the possible involvement of the @PHENOTYPICFEATURE$ control system, pain pressure threshold (PPT), nociceptive flexion reflex (RIII), blink and corneal reflexes have been studied for pain perception assessment in 12 patients with chronic @DISEASE$ (CPH) and 12 patients with hemicrania continua (HC).	false
+81ec71fe36fdbd88eb2a83f878ea9b43f6c50d51	Vascular pain of the face constitutes a variant of @PHENOTYPICFEATURE$ of the head, and includes migraine, cluster headache, @DISEASE$, and a facial variant of the so-called lower-half migraine.	false
+db4a8c1f7127bf05c343dca67507b013e1ed9654	On the other hand, sumatriptan failed to treat the indomethacin-responsive primary headache disorders like chronic @DISEASE$ and hemicrania continua, nor was it effective in the myofascial temporal muscle pain or in atypical facial @PHENOTYPICFEATURE$.	false
+e31ca571492e5cc2908e76b82db99ad3a2b7eaec	The MEDLINE, EMBASE and Cochrane databases were searched using the subject heading of facial pain, that is, rhinosinusitis, migraine, cluster headaches, midsegment facial @PHENOTYPICFEATURE$, trigeminal neuralgia, @DISEASE$, hemicrania continua and drug-dependent headache.	false
+984aaf8370e9fe2fb5f96fe146406d31c676f9b7	The MEDLINE, EMBASE and Cochrane databases were searched using the subject heading of facial @PHENOTYPICFEATURE$, that is, rhinosinusitis, migraine, cluster headaches, midsegment facial pain, trigeminal neuralgia, @DISEASE$, hemicrania continua and drug-dependent headache.	false
+e24f6ecab1a36a548b018703b3936fbc0bfd96ef	We enrolled 140 patients with any of 14 syndromes (@DISEASE$ syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+14985bac158f99bba75b7005a0b7edbcf78ab907	These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an @PHENOTYPICFEATURE$ in the @DISEASE$ syndrome.	false
+0c64e8c2836743369bca958ae2b400d01d61c41f	In a patient with clinical features of @DISEASE$ syndrome, such as hearing loss, preauricular fistulas and @PHENOTYPICFEATURE$, but no renal anomalies, neither sequencing of the 3 genes linked to BOR syndrome nor array comparative genomic hybridization and MLPA were able to uncover a causative mutation.	false
+2db0adc640d5615cbfadf0ab70db2cfd552074c3	In a patient with clinical features of BOR syndrome, such as hearing loss, preauricular fistulas and @PHENOTYPICFEATURE$, but no renal anomalies, neither sequencing of the 3 genes linked to @DISEASE$ syndrome nor array comparative genomic hybridization and MLPA were able to uncover a causative mutation.	false
+46a48fce3b967bf53366611bf32adc2cdf776981	We undertook a clinical trial of growth hormone (GH) therapy for patients with @PHENOTYPICFEATURE$ accompanying severe short stature caused by achondroplasia (ACH), hypochondroplasia (HCH), pseudoachondroplasia (PSACH), spondyloepiphyseal dysplasia congenita (SED), or @DISEASE$ (MD).	false
+7476a49210a925036ff7dbe93d6f4d237670af93	Another aim is to summarize recent knowledge about well-known syndromes, including @DISEASE$ (Lynch syndrome), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN @PHENOTYPICFEATURE$ tumor syndromes.	false
+7fcc62614892c777a18928580827135ed2ccc8e7	It also harbors the genes for several genetic disorders, including Type I @DISEASE$ (HNPCC), familial male precocious puberty (FMPP), Carney complex (CNC), Doyne's honeycomb retinal dystrophy (DHRD), and one form of familial @PHENOTYPICFEATURE$ (DYX-3).	false
+50f70b63799107679f661f7c85bca7f3c5ad10f7	It also harbors the genes for several genetic disorders, including Type I hereditary nonpolyposis colorectal cancer (@DISEASE$), familial male precocious puberty (FMPP), Carney complex (CNC), Doyne's honeycomb retinal dystrophy (DHRD), and one form of familial @PHENOTYPICFEATURE$ (DYX-3).	false
+e451e0fed5725306e9297c41a61aade7bba71b7b	One patient is a 6-year-old child with @DISEASE$ and positive results for PPD, and the second is a 65-year-old woman with bilateral @PHENOTYPICFEATURE$ intraocular lymphoma.	false
+d69ab612c967bb38cb7dd0a7b0e4c1e19738adb5	Keratoderma hereditarium mutilans, or @DISEASE$, is a very rare genetic skin condition which causes @PHENOTYPICFEATURE$ and constricting rings of the fingers and toes.	false
+df4c32f1f90b0775db52905fb4f55a9c5b5d669b	Vohwinkel syndrome or @DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$, which manifests in infants and becomes more evident in adulthood.	false
+b3c871b5c819227ea128d36ecde29fc3a1d22906	@DISEASE$ or keratoderma hereditaria mutilans is a rare autosomal dominant @PHENOTYPICFEATURE$, which manifests in infants and becomes more evident in adulthood.	false
+25b55010d745dc55b0c82a78c046dc3c42f7b8b2	An additional family with @DISEASE$, a combination of hearing impairment and @PHENOTYPICFEATURE$ with constriction of the digits, was also included.	false
+f004ca05580072480a5b5f79980134bd1bd43617	We describe a female patient with @DISEASE$ (mutilating palmoplantar keratoderma), who in addition showed cleft lip and palate, @PHENOTYPICFEATURE$, facial asymmetry, and other anomalies.	false
+400ea79b5f1454376416fcf60019b5bf9d06a3a5	@DISEASE$ (KHM), or Vohwinkel's syndrome, is a rare genodermatosis consisting of @PHENOTYPICFEATURE$ with a characteristic "honeycomb" appearance, keratotic structures taking the shape of a starfish and/or knuckle pads on the dorsal surfaces of the hands, and constricting bands (pseudoainhum) encircling digits of the hands and feet.	false
+12f7b3057281c5dcd30f5a486bf286a6477c93a5	@DISEASE$, or keratoderma hereditarium mutilans, is a rare, autosomal dominant genetic skin condition that causes @PHENOTYPICFEATURE$ and constricts finger and/or toe bands.	false
+3ef47aa179ff0d358de45c97e6efbd3c846f1671	@DISEASE$ is a rare inherited cornification disorder characterized by @PHENOTYPICFEATURE$ with a characteristic "honey-comb" appearance, keratotic constriction furrows of one or more digits (pseudo-ainhum) and threatening spontaneous amputation.	false
+1b201ff4093f12b50ce4f20fd91b52ba09c0224c	Based on his clinical findings and on family history, the diagnosis of the ichthyotic @DISEASE$ subtype, characterized by generalized ichthyosis and @PHENOTYPICFEATURE$, was established.	false
+89aa824e69f25208431812b7e43cac212b86594f	A retrospective chart, radiograph, and clinical photograph review (1960-2005) of patients previously diagnosed with @PHENOTYPICFEATURE$, hand hypoplasia, or ULD was performed to evaluate for a diagnosis of @DISEASE$ isolated to the hand.	false
+91ab9a34b5474890b99e5b93b9ce5b1af2586fae	A retrospective chart, radiograph, and clinical photograph review (1960-2005) of patients previously diagnosed with @PHENOTYPICFEATURE$, hand hypoplasia, or @DISEASE$ was performed to evaluate for a diagnosis of ULD isolated to the hand.	false
+b6fe63c4fdfc5e36638fbe9885cd41b8afae574b	Clinically, the patient showed multiple benign @PHENOTYPICFEATURE$ lesions of the skin, papillomatosis of the lips and oral mucosa, @DISEASE$ and bilateral fibrocystic disease of the breast.	false
+69e8024d0d81d5bdf900e1221d8f4ea829c628a5	We report an unusual case of multiple colonic hamartomatous polyps, including a giant @PHENOTYPICFEATURE$, unrelated to hereditary or @DISEASE$ syndromes, in a 48-year-old man.	false
+138f75ca80aa973a3e1f19e2cc48be35601c2b31	Through literature analyses, we confirmed associations of 37 (i.e., out of the 112) polymorphisms within 23 UCEs with 25 diseases and phenotypic traits, including, @PHENOTYPICFEATURE$, eye diseases, and cancers (e.g., @DISEASE$).	false
+1e3ce550fe8fdc4b6ee16b4a755b6d3c0cfa3841	Apart from a hereditary form (primary HOA), most of the cases encountered in children are secondary and associated with conditions such as chronic suppurative lung processes (e.g., cystic fibrosis), congenital heart disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e55617af47251df33f14f74251c95e9a80a1abe3	Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (Lynch syndrome), @DISEASE$, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN @PHENOTYPICFEATURE$ tumor syndromes.	false
+0d14a21ac55e0317560666461081c65f23d217c7	The resulting differential diagnosis includes (attenuated) @DISEASE$ ([a]FAP), MUTYH-associated polyposis (MAP), polymerase proofreading-associated polyposis (PPAP), phosphatase and tensin homolog (PTEN) @PHENOTYPICFEATURE$ tumor syndrome (PHTS), Peutz-Jeghers syndrome and juvenile polyposis, each with a?specific genetic background.	false
+47faf6015e1fd502ece568b5f21dd11d2cd57375	The resulting differential diagnosis includes (attenuated) familial adenomatous polyposis ([a]@DISEASE$), MUTYH-associated polyposis (MAP), polymerase proofreading-associated polyposis (PPAP), phosphatase and tensin homolog (PTEN) @PHENOTYPICFEATURE$ tumor syndrome (PHTS), Peutz-Jeghers syndrome and juvenile polyposis, each with a?specific genetic background.	false
+0e9a686e1715c31a734c319c54476ec34405093d	In hereditary adenomatosis of the large bowel (@DISEASE$) extraintestinal manifestations of the disease are common: @PHENOTYPICFEATURE$, dental anomalies, soft tissue tumours, desmoid tumours etc. Patients with marked extracolic signs are described as patients with Gardner's syndrome.	false
+6b13f37029ba48023c4cb8a8d0a405336f1bf50e	There is, however, increasing recognition of syndromes, including @DISEASE$, juvenile polyposis coli, Peutz-Jeghers syndrome, and infrequent conditions, such as PTEN @PHENOTYPICFEATURE$ and hereditary mixed polyposis syndromes.	false
+21eb0d0a76657f2b352b0ab0b8bcd3098637ec13	The first group, syndromic-associated tumors, includes phosphase and tensin (PTEN)-@PHENOTYPICFEATURE$ tumor syndrome/Cowden syndrome, @DISEASE$/Gardner syndrome, Carney complex type 1, Werner syndrome, and Pendred syndrome.	false
+b4f235db3f52aa5c6222ddd26d4b630772f0479c	In this study, in addition to the adenoma and adenomatosis (@DISEASE$, Gardner syndrome, Turcot syndrome), the @PHENOTYPICFEATURE$ (Peutz-Jeghers syndrome, juvenile polyp), inflammatory bowel diseases (ulcerative colitis, Crohn's disease, fistel ani and others) and the origin of the carcinoma were examined.	false
+1dd92050266b837a0519e6ae76b12408be15b460	week of pregnancy, the @PHENOTYPICFEATURE$ status during pregnancy and the fetal overgrowth (macrosomia at birth) indicate the possible factors that lead to the @DISEASE$ (OFC).	false
+e2f7cb6fa4112b488774946b951a5ca3f64343f4	Data were derived from a case-control study of fetuses and liveborn infants with @DISEASE$, neural tube defects, conotruncal defects, or @PHENOTYPICFEATURE$, among 1987-1989 California births and fetal deaths.	false
+8ed568e995e0f7c7ccbad57e311f9c1b5fd476f1	In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+7f7d29c55aea925ab04428e1c8e0ce20e48575a8	A patient with @DISEASE$ and chronic pulmonary obstruction was treated with the non-selective beta-adrenergic blocking agent timolol in ophthalmic solution of 0.25% for 11/2 years, when he had daily @PHENOTYPICFEATURE$ attacks.	false
+ba2c7ad1351f30055404cb1c5670ecceafce9f78	This paper discusses the pathogenesis, diagnosis, and treatment of six common forms of the disease: exfoliation syndrome, @DISEASE$, neovascular glaucoma, lens-induced glaucoma, glaucoma accompanied by @PHENOTYPICFEATURE$, and trauma-induced glaucoma.	false
+fa92110715630ae193bde74feb7c1ae18c216002	To compare optical coherence tomography angiography (OCT-A) retinal vasculature measurements between @PHENOTYPICFEATURE$ (NAION) and @DISEASE$ (OAG) with altitudinal hemifield visual field defects.	false
+5714c9093a9d0e247726a182856dd9cad10a6d83	GH and zinc treatments for @PHENOTYPICFEATURE$ caused by steroid treatments in a young patient with @DISEASE$ (type 1).	false
+9ac09714ec90782e3faffcdeb0e9ff8c70cc16e5	We describe a 32-year-old female with @DISEASE$ on azathioprine and prednisone, presenting with @PHENOTYPICFEATURE$ and inflammatory skin eruptions.	false
+ff9cac7c2cee0b844bd27fb6ef7025f242f8781f	A 31-year-old female with ulcerative colitis, primary sclerosing cholangitis, and cirrhosis presented with @PHENOTYPICFEATURE$, chills, shortness of breath, dry cough, and chest pain for five days after being started on immunosuppression for @DISEASE$ two months earlier.	false
+36b9587c4120ee79b948c7e18ed00e492b432f71	We present a 25-year-old man with a history of Still's disease who presented with @PHENOTYPICFEATURE$, arthralgia, and elevated serum ferritin levels 6?months after undergoing liver transplantation for fulminant hepatic failure due to @DISEASE$ potentially triggered by infliximab therapy.	false
+5c6006831ece1ca4f0b147cbd4028eb0c2b1628c	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and @DISEASE$.	false
+9079405d0a4cf5b506662bba07dcf8007f37eb16	@DISEASE$ (AIH) may present with clinical, @PHENOTYPICFEATURE$	false
+4e3752a98d77f48114df46bf630cf7dec58e0e7a	Patients may present with livedoid skin lesions accompanied by @PHENOTYPICFEATURE$, polyarthritis, @DISEASE$ and drug-induced lupus.	false
+e4ff6d338948316e3874f2e8292f967c9fffbfc8	The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be @DISEASE$, keratoconjunctivitis, frequent @PHENOTYPICFEATURE$ with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis.	false
+4d4acbf6bd4a91183b9c50c3f94c050bac7fcfa3	An 84-year-old woman who received long-term corticosteroid therapy (40?mg/day prednisolone for two years) for @DISEASE$ developed a headache, slight @PHENOTYPICFEATURE$, and anorexia and was diagnosed with cryptococcal meningitis two months prior to hospital admission.	false
+7424a8aa32ff2a0613405c9a0c68bff7c1b254f0	Vitiligo, @PHENOTYPICFEATURE$, @DISEASE$, alopecia, pernicious anaemia and seronegative arthritis may also be present.	false
+53b2402769019614b4c8bddbb27ee2cbb2f139a8	@DISEASE$, @PHENOTYPICFEATURE$, and nervous system anomalies were the most common anomalies associated with exomphalos.	false
+aba6f0ba56af10e9912603165adaf83d8e998a91	In 24 children (17%) @PHENOTYPICFEATURE$ was associated with a syndrome (Down syndrome eight, @DISEASE$ three, other syndromes three), or other congenital malformations (single eight, multiple two).	false
+5ade1c43bd2dbd63534f2a5d401a21f45bad743e	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ec59663c9cff9cdf05b555c78ee188b6b52b8c15	The finding that GluR activity is significantly depressed at conditions characteristic of @DISEASE$ indicates a potentially important contribution of impaired GluR function to PKU-related @PHENOTYPICFEATURE$ and provides important insights into the potential physiological consequences of impaired GluR function.	false
+4bd503fa8f293d207ea024ec1239b194b4e0cbdc	The severe form or @DISEASE$ untreated causes @PHENOTYPICFEATURE$, although with the early detection programs in the neonatal period, diagnosis and treatment prevent the appearance of the symptoms.	false
+e33fba89257a649fb7014e8007e592404c47df3a	The offspring of mothers with untreated @DISEASE$ (PKU) have shown a high frequency of microcephaly, @PHENOTYPICFEATURE$, pre- and postnatal growth retardation, and birth defects.	false
+6f8d075a693caaa8700eb7f620ce637c892f9abe	The average prevalence of @DISEASE$ in the study population was 2.1%, which is higher than that reported for most @PHENOTYPICFEATURE$ populations in other countries prior to the implementation of a nationwide newborn screening programme for PKU.	false
+79481d1bf5f4df1aedf56fee615be32492d0797e	A 16-year-old boy with @DISEASE$ (PKU) and mild mental retardation (IQ 69) was detected by the screening of @PHENOTYPICFEATURE$ school children in Taiwan with Guthrie's bacterial inhibition assay.	false
+7af272d1efaa19449535d690ecfd81a077c0a807	The phenylalaninemia mean was 1680 ?mol/L; the @DISEASE$ form accounted for 85.3% of cases and the dominant clinical symptoms were: @PHENOTYPICFEATURE$ (88.2%), motor delays (87.7%), speech difficulties (83.2%) and pigmentation anomalies (61.7%).	false
+31b18d91955ebf11c8d0d939a45277475e484fb4	Prevalence of @DISEASE$ in @PHENOTYPICFEATURE$ individuals in Iran.	false
+226264eae23b30046687c274bf6447dd2a998416	In untreated pregnancies wherein the mother has @DISEASE$ with a blood phenylalanine level > or = 1,200 microM (20 mg/dl), the frequencies of these abnormalities in offspring are exceedingly high, approaching 75-90% for microcephaly and @PHENOTYPICFEATURE$ and 15% for congenital heart disease.	false
+343cffe5603c0d73bc7dcabf8776e4b0c81ba9b0	Chorea is a @PHENOTYPICFEATURE$ usually due to vascular, hereditary, metabolic or drug-induced causes, and has rarely been reported in association with @DISEASE$ (PV).	false
+1ebbfd2e7e90b4603db54cae12f8200c057c14d7	@DISEASE$ is a sporadic myeloproliferative disorder of the haematopoietic stem cells and is a treatable cause of chorea.Chorea is a @PHENOTYPICFEATURE$ with various aetiologies that is difficult to diagnose.Prompt treatment of polycythemia vera will lead to resolution of the chorea, with aspirin and phlebotomy being recommended in low-risk cases and hydroxyurea in high-risk cases.	false
+5a6592c42eb442d25b2b9fb701f5685564b1e952	Absolutely therapy-resistant depression and mixed @PHENOTYPICFEATURE$ in an unusual case of @DISEASE$.	false
+4b9c50cda269c69ffd2de4c44a5668df0487599b	On antenatal anomaly @DISEASE$, the fetus had @PHENOTYPICFEATURE$ that had increased throughout pregnancy, and a diagnosis of hydrancephaly was made at 36 weeks of gestation.	false
+624ca4c737f934d6cea6e8057813a301574a3525	@PHENOTYPICFEATURE$ and hyponatremia at the time of diagnosis were found to be significant initial risk factors for renal @DISEASE$ abnormalities and microproteinuria, respectively, during the late therapy period (P < 0.05).	false
+56300a76b7de3a3c97acbeee00156e673290a897	We present a case of metastatic medullary thyroid carcinoma involving the pituitary gland of a 23-year-old woman with @DISEASE$ who presented with diabetes insipidus and @PHENOTYPICFEATURE$.	false
+98d12a6b17350f53c8687d2f971ad03a5ff2b7db	A case of @DISEASE$, is reported presenting with @PHENOTYPICFEATURE$, neck masses, and constipation.	false
+8613a478f8b4bcd36aa9a462f08bdf3f12e41699	GNs are frequently associated with neurofibromatosis-1 and @DISEASE$ and commonly present with constipation, abdominal pain, @PHENOTYPICFEATURE$, obstruction, and gastrointestinal bleeding.	false
+127085e7ec6647a40ed98e1b45bd343dca00ff78	Clear-cut associations with HSCR include Down's syndrome, dominant @PHENOTYPICFEATURE$, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the @DISEASE$ syndrome and other abnormalities.	false
+2b169330b00ac799ef10f1b61d0a29bf40c467f1	Conditions associated with an increased risk of HD suggest some common inherited factor and include Down's syndrome, Waardenburg syndrome (WS), dominant @PHENOTYPICFEATURE$, neurofibromatosis, neuroblastoma, phaechromocytoma, the @DISEASE$ syndrome, and other abnormalities.	false
+8878d6cd8574bc4a9d559d203e6de48e7bb918d6	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and spastic quadriplegia.	false
+4b076ea1bd9c2fec6d2b342f07a1706d8f57323b	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic @PHENOTYPICFEATURE$, developmental delay, @DISEASE$, microcephaly, peripheral neuropathy, and spastic quadriplegia.	false
+e7c6bb4314cb531d241c88afd13281d135af09a6	The anomalies included severe congenital bilateral leg @PHENOTYPICFEATURE$, bilateral gynecomastia, unilateral @DISEASE$, and malformed external genitalia.	false
+478644a703ef432a96a1295f1ebf309a661e2eea	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, hypotrichosis, @DISEASE$, micrognathia and @PHENOTYPICFEATURE$.	false
+b747a0480f7d644539e801e6c72d641e3fd7f47a	The primary symptoms were myotonia and weakness with varying multi-system involvement including cardiac defects, @DISEASE$, sleep disturbances, cholecystopathy, and @PHENOTYPICFEATURE$.	false
+b88c58f527878e442248d1760637047ea7898e18	The primary symptoms were myotonia and weakness with varying multi-system involvement including cardiac defects, @DISEASE$, @PHENOTYPICFEATURE$, cholecystopathy, and peripheral neuropathy.	false
+ca32b0c82d52d4b0440842b77217510b51c81269	macular hypoplasia, @PHENOTYPICFEATURE$, aphakia after congenital @DISEASE$).	false
+0dca253aea3125f998778bfcf10f2c79fa1a72c2	Median delay between @DISEASE$ @PHENOTYPICFEATURE$ and referral for neuromuscular evaluation was 10 years (IQR=6.0-19.5)	false
+eda3805f95fd56b2ca883ff99a43c022763bcfa8	No patient was referred for neuromuscular evaluation due to the occurrence of early @PHENOTYPICFEATURE$ @DISEASE$.	false
+7904e19ed2957447276a5e8663ebdab520ed28d9	These disorders should be considered in the differential diagnosis of the infant with hypotonia and psychomotor delay (especially if accompanied by facial dysmorphisms, hepatomegaly, @DISEASE$ and/or retinitis, calcific stippling, @PHENOTYPICFEATURE$, or combinations of these features), in the school-aged child with progressive neurologic dysfunction, and in adults with slowly progressive motor dysfunction.	false
+9dcd56cecac336fa2713a789de7ffdcfb256178f	The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, @DISEASE$, beaked nose, micrognathia, and @PHENOTYPICFEATURE$.	false
+e91dbc5034441e4216703aee0cee24e0e2681e18	congenital @DISEASE$, optic atrophy, hypoplasia maculae, high refractive error, @PHENOTYPICFEATURE$ ect.	false
+70767ba87a0a9017510aeb21448f76e9e65bee02	@DISEASE$ and visual @PHENOTYPICFEATURE$.	false
+72d1a8f119551514cce801cd55367fdc40857ad6	Retinal @PHENOTYPICFEATURE$ and prevalence of @DISEASE$ in adult Chinese: the Beijing Eye Study.	false
+89f8d500c6737e246a03df5cf56142fa858d3b9b	To determine the prevalence of retinal @PHENOTYPICFEATURE$ (RVA) in neovascular age-related macular degeneration (@DISEASE$).	false
+e1f6be94c7c64d913b69baba9525ca1c12bfb517	@DISEASE$ is the most common cause of visual @PHENOTYPICFEATURE$ in the industrialised world.	false
+e053c23f8c321f9e567f31fd488eb4c3a0da6b38	The ADREV is a valid instrument for the assessment of visual @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+5f5d5327ac5e335d42706eac8120802967109b1f	In industrialised populations age-related macular degeneration (@DISEASE$) is the leading cause of visual @PHENOTYPICFEATURE$ of the elderly.	false
+9b421a6245f46cbbaeffc5c31faa4220f3347434	In industrialised populations @DISEASE$ (ARMD) is the leading cause of visual @PHENOTYPICFEATURE$ of the elderly.	false
+6eca07fae20057bc80197a903510fabc8e3dab4c	The symptoms of @DISEASE$ consist of facial and skeletal deformities combined with progressive psychiatric and neurological complaints, especially @PHENOTYPICFEATURE$ and mental retardation.	false
+975a6bec311e947fc7b3cd54ccf709326df81f3b	The symptoms of @DISEASE$ consist of facial and skeletal deformities combined with progressive psychiatric and neurological complaints, especially ataxia and @PHENOTYPICFEATURE$.	false
+02086bd103a43e55463787a66474a4f8525c4be2	Since age-related macular degeneration (@DISEASE$) is caused mainly by the choroidal @PHENOTYPICFEATURE$ and/or insufficiency, these N-nitropyrazole analogs are of potential use in the treatment of AMD.	false
+c8bd66e7d16b2283c3209f95606f7935c35ddfbb	Since age-related macular degeneration (AMD) is caused mainly by the choroidal @PHENOTYPICFEATURE$ and/or insufficiency, these N-nitropyrazole analogs are of potential use in the treatment of @DISEASE$.	false
+8c7bb3feca0b7928985ec608c0c9ea2d2318f147	Since @DISEASE$ (AMD) is caused mainly by the choroidal @PHENOTYPICFEATURE$ and/or insufficiency, these N-nitropyrazole analogs are of potential use in the treatment of AMD.	false
+694b8b1803e32fe807f737075af51b6f396b9e6c	Age-related macular degeneration (@DISEASE$) is the leading cause of visual @PHENOTYPICFEATURE$ in people over 60 years of age in the developed world.	false
+137fcce12b298ddb116443e4cd98a9ca0ab71be9	@DISEASE$ (ARMD) is the leading cause of visual @PHENOTYPICFEATURE$ in people over 60 years of age in the developed world.	false
+50120116eac0a9a97d7709365365f95c85e5a661	Subfoveal choroidal neovascularisation (CNV) is a major cause of visual @PHENOTYPICFEATURE$, with age-related macular degeneration (@DISEASE$) the commonest cause.	false
+32b2c4e13e2a177ede549dea9e6dc64d0cf76b82	Subfoveal choroidal neovascularisation (CNV) is a major cause of visual @PHENOTYPICFEATURE$, with @DISEASE$ (AMD) the commonest cause.	false
+8a9ba7deb31d6e444254749a36b60586ffb09381	This review summarizes recent major advances in seven areas in the field of pediatric hepatobiliary disease, including extrahepatic @PHENOTYPICFEATURE$, liver disease and transplantation in cystic fibrosis, growth after liver transplantation, predicting acetaminophen hepatotoxicity, treatment of chronic hepatitis B, hepatocellular carcinoma, and liver disease in @DISEASE$.	false
+20a6042a04b2e28c8c20e3b8b2f45edf6de91060	In this case, we could not clarify the etiological mechanism of the hemothorax, however, there was a possible link with @DISEASE$-associated interstitial @PHENOTYPICFEATURE$.	false
+0134b0454a05548b5263cd0e19e023ba588225ac	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+7d18fbf248850cee7a765ce9aba181a0ab3dc420	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild @PHENOTYPICFEATURE$, and bilateral club feet, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+6e9fab85f20c7c9218bc0065cb403292db444728	Thirty one ovarian masses from @PHENOTYPICFEATURE$ and 19 masses from @DISEASE$ were diagnosed by histopathological study or clinical follow-up.	false
+05af366a0fc53e3c8c4d11dbbbab3e8807b8426a	Ovarian metastasis from @PHENOTYPICFEATURE$ was significantly solid compared with that from @DISEASE$.	false
+0f5eb7749b60e4dce719cf50adf0e5b16e1ca9c3	[Cryoablation for metastatic @PHENOTYPICFEATURE$ derived from @DISEASE$].	false
+2599f995274efd0550d5227aed6717db7a13ed94	Apoptosis inactivation and intratumoral @PHENOTYPICFEATURE$ (ITH) are common features of cancers, including @DISEASE$ (CRC).	false
+31b01d58c996bed227337602b0f94780e13389fb	Early diagnosis is difficult because the initial symptoms of @DISEASE$, such as @PHENOTYPICFEATURE$, nausea and vomiting, constipation, and abdominal distention, are often attributed to a normal pregnancy.	false
+10c3828241c77b59035dbec97b365956b4924131	Early diagnosis is difficult because the initial symptoms of @DISEASE$, such as abdominal pain, @PHENOTYPICFEATURE$, constipation, and abdominal distention, are often attributed to a normal pregnancy.	false
+62b8378798f81e4798bc2787be0c7dd44e3ec33e	Surgical stress response and promotion of metastasis in @DISEASE$: a complex and @PHENOTYPICFEATURE$ process.	false
+8ca0087f7cf4c9cacc3b62f91ba9151ce0a51f9b	[Surgical treatment of metastatic @PHENOTYPICFEATURE$ from @DISEASE$].	false
+91be3999d198d1d1b18a8d98e096ecbe670cdad7	@DISEASE$ (CRC) is a highly @PHENOTYPICFEATURE$ disease, with pathologically similar cancers having completely different responses to treatment and patient survival.	false
+46f8f947c7ef39271788f2307ff0dc26cc192213	Levels of p-caspase-9 were significantly higher in @DISEASE$ than in @PHENOTYPICFEATURE$, indicating tumor-specific regulation.	false
+c08e31709a26c461d07acb5a0d9fbd299096deb6	Ho radioembolization in patients with neuroendocrine tumor metastases, @PHENOTYPICFEATURE$, and @DISEASE$ metastases.	false
+a441c93f3f6008d2cd57a7ac4bc5cce2fc92d941	Malformations of cortical development (@DISEASE$) are a common cause of intractable @PHENOTYPICFEATURE$ in humans.	false
+dd7279b6c77fc84e32beceac87230f3734cb51e7	Previous neuroanatomical examination of a BXD29 recombinant inbred strain (BXD29-Tlr4(lps-2J)/J) revealed @DISEASE$ consisting of bilateral subcortical nodular heterotopia with partial @PHENOTYPICFEATURE$.	false
+16b8f4d623f61acee37576cb3c55efdc26191150	These results indicate that @DISEASE$ show spectroscopic features of primitive tissue and @PHENOTYPICFEATURE$ of both inhibitory and excitatory neurotransmitters.	false
+ec880f281ae70adac80b067e092a418f68f2f064	Malformations of cortical development (@DISEASE$) are frequently associated with neurological conditions including @PHENOTYPICFEATURE$, autism, and epilepsy.	false
+6266271b80a64f23be8db9cfb78c73bc012e3064	Majority of patients with @DISEASE$ and refractory epilepsy when operated early remains @PHENOTYPICFEATURE$-free.	false
+f5a770958c7ded5226765e5ee1fea03d8ea2351f	To describe the neurological phenotype of children with prenatal diagnosis of @PHENOTYPICFEATURE$ (ACC) and interhemispheric cysts associated with malformations of cortical development (@DISEASE$).	false
+16bf79499bece446aac193ebc118a9b7e4237d15	However, the threshold @DISEASE$ dose to induce @PHENOTYPICFEATURE$ drastically decreased after the first postnatal week.	false
+a2af2433290f098c11dfb8c0a4be7df21214052d	Patients with @DISEASE$ showed the worst @PHENOTYPICFEATURE$ outcome.	false
+8986cc8653fdbe6fcae038b4472ec219d4665652	These data suggest that p-ACC may confer @PHENOTYPICFEATURE$ resistance in models of @DISEASE$.	false
+23a7a44077f0b32045074e25dc74efe46f2e7468	MRI evidence of hemimegalencephaly or bilateral @DISEASE$ suggests a low likelihood for postoperative freedom from @PHENOTYPICFEATURE$.	false
+88183b3b79340c5cc93a7346a45b2c42424c0300	The purified LNV-LAO not only retained its specific enzymatic activity (73.46 U/mg), determined against L-leucine as a substrate, but also exhibited potent haemolytic (1-10 microg/ml), @PHENOTYPICFEATURE$- (@DISEASE$.8 microg/ml) and human platelet aggregation-inducing (ED50 33 microg/ml) properties.	false
+dd5743721d13a43244dfc2f7c7e3a264fc5f8fda	The effects of a single oral dose of carnitine on fasting-induced ketosis was investigated in four normal individuals, five patients with @PHENOTYPICFEATURE$, and one patient with a generalized @DISEASE$.	false
+99767991603f9fa6390601a2dd2eda2a8cfedddd	@PHENOTYPICFEATURE$ and Aphonia as Complications of @DISEASE$.	false
+7f7b9a86ca15caa586406f375ede425e4877091d	The iCCM intervention improved appropriate treatment for uncomplicated @DISEASE$, @PHENOTYPICFEATURE$ symptoms and diarrhoea.	false
+e8cf88c50ec9c715209d08a426d36754e11cff77	A nine-year-old male child presented with @PHENOTYPICFEATURE$, vague abdominal pain, diarrhoea, and fever, which led to the following differential diagnoses; acute food poison gastro-enteritis, typhoid enteritis, @DISEASE$ and acute appendicitis.	false
+00f2262f6d6c86b0619f3b644f23815e4bf00d99	A nine-year-old male child presented with vomiting, vague @PHENOTYPICFEATURE$, diarrhoea, and fever, which led to the following differential diagnoses; acute food poison gastro-enteritis, typhoid enteritis, @DISEASE$ and acute appendicitis.	false
+db4891b8191a291de7b6e0ecbc0391c85b3a9ff3	Of all the indications of the identified plants, fever, headache, abdominal pain, and @PHENOTYPICFEATURE$ were the most frequently reported, with @DISEASE$ treatment recording the highest usage of plant remedies (22%).	false
+4a8ad7d16b1882c5c235926bc94942ba3766e16f	Of all the indications of the identified plants, fever, headache, @PHENOTYPICFEATURE$, and vomiting were the most frequently reported, with @DISEASE$ treatment recording the highest usage of plant remedies (22%).	false
+f85a03ca34815e5e05c88e04d5b8c3e603e47158	Ten programmes were included in the analysis: Ebola, HIV/@PHENOTYPICFEATURE$ C, Guinea worm, @DISEASE$, nutrition, and water, sanitation and hygiene.	false
+43cff83cf529f60fbe0357c4aae74d3d1e070ab2	During the 11-year study period, 40 children were diagnosed with @DISEASE$; 30 (75%) presented with fever; 14 (35%) complained of nausea, @PHENOTYPICFEATURE$ or abdominal pain; and eight (20%) were completely asymptomatic.	false
+96d272fd52062fe5df48b9a3a31abe310fdbbf68	During the 11-year study period, 40 children were diagnosed with @DISEASE$; 30 (75%) presented with fever; 14 (35%) complained of nausea, vomiting or @PHENOTYPICFEATURE$; and eight (20%) were completely asymptomatic.	false
+6d635e2d1b557945e4f11841cc3542d07e3ef1d3	Cases with dual infection had significantly more gastrointestinal symptoms at the time of admission, including nausea, @PHENOTYPICFEATURE$, abdominal pain, and/or diarrhoea compared to matched control subjects with uncomplicated @DISEASE$ (p-value is less than 0.006).	false
+4802a4800f1a0dff151baf60888e4d0c82120970	Cases with dual infection had significantly more gastrointestinal symptoms at the time of admission, including nausea, vomiting, @PHENOTYPICFEATURE$, and/or diarrhoea compared to matched control subjects with uncomplicated @DISEASE$ (p-value is less than 0.006).	false
+85269e88e26aafd4a880136d4fb099c435f2dd4f	Many mothers identified basic @DISEASE$ symptoms such as headache (70%), fever (68.8%), cold (65%), body or joint pain (65.5%) and @PHENOTYPICFEATURE$/ vomiting (0.5%).	false
+5c1361cfea6efefac1c08c63da5c4e818f8ca569	Many mothers identified basic @DISEASE$ symptoms such as headache (70%), fever (68.8%), cold (65%), body or joint pain (65.5%) and abdominal pain/ @PHENOTYPICFEATURE$ (0.5%).	false
+e72c56c06d8ef0a2c89a6bca12a08458ed50f6d7	We defined a suspected case as onset of fever (?37.5??C) for more than 3?days with abdominal pain, headache, negative @DISEASE$ test or failed anti-malaria treatment, and at least 2 of the following: diarrhea, nausea or @PHENOTYPICFEATURE$, constipation, fatigue.	false
+e6069a7895c8184d9082341427646bee1e704ab9	We defined a suspected case as onset of fever (?37.5??C) for more than 3?days with @PHENOTYPICFEATURE$, headache, negative @DISEASE$ test or failed anti-malaria treatment, and at least 2 of the following: diarrhea, nausea or vomiting, constipation, fatigue.	false
+bc04479886d77b0e9b002efd158f22e4bfe5f47d	Mefloquine-induced @PHENOTYPICFEATURE$ during @DISEASE$ chemoprophylaxis in a non-epileptic subject.	false
+f7d235534fa00184327582d6490d70ae9f200c9a	Hypodontia in Beare-Stevenson syndrome: an example of @PHENOTYPICFEATURE$ in FGFR-related @DISEASE$.	false
+a408e6d632a41a90b640e14d2dfbd94982f8b679	A full-term female baby was diagnosed as having Apert syndrome with @DISEASE$, hypertelorism, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+50ea909497787a0da5e0fda887475577b5473893	Renal damage due to calcification, @DISEASE$ and @PHENOTYPICFEATURE$ with premature loss of dentition are further complications.	false
+d1e8840f98eadeab860f7c7e08a7d68db4d992fb	Renal damage due to calcification, @DISEASE$ and @PHENOTYPICFEATURE$ with premature loss of dentition are further symptoms, which have been described as characteristic in the ESPED inquiry of 2004.	false
+d36be254f769a1af2a886585ccc3a0adf0162adb	A heritable syndrome of @DISEASE$, short thin hair, @PHENOTYPICFEATURE$, and short limbs: cranioectodermal dysplasia.	false
+32a321688aa5840a78976f54fe73a20d84f4abef	We found that patients with duplication of the region have varied clinical features including behavioral abnormalities, @PHENOTYPICFEATURE$, congenital heart defects and skeletal manifestations, such as hypermobility, @DISEASE$ and polydactyly.	false
+70951380d3466bce640938c7cdf47ebeda66d79e	We found that patients with duplication of the region have varied clinical features including behavioral abnormalities, cognitive impairment, congenital heart defects and skeletal manifestations, such as hypermobility, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f58c4559dd710eb174aba32c6a9fb849dca8c251	Additional features, previously described, include congenital glaucoma, hepatic fibrosis, @PHENOTYPICFEATURE$, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, @DISEASE$ and pancreatic exocrine insufficiency.	false
+bd89ef3c2eb9128fc6aa9272c3202f5d7fb4f446	We describe a male patient with ocular colobomata, cleft palate, @PHENOTYPICFEATURE$, panhypopituitarism and possible @DISEASE$, whom we have followed for 30 years.	false
+3a0d645d04fc520b1401520c31a31eb64229190c	Neonatal thyrotoxicosis: @PHENOTYPICFEATURE$ and @DISEASE$ in later years.	false
+c835f4e3b1642f7873fb08187ced1c2ec63a2bf8	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, @DISEASE$ with @PHENOTYPICFEATURE$ and syndactyly, and craniosynostosis with other somatic abnormalities.	false
+466dfe80fe7f83a21a47e99de72507bf568d1b5a	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, @DISEASE$ with syndactyly, craniosynostosis with @PHENOTYPICFEATURE$ and syndactyly, and craniosynostosis with other somatic abnormalities.	false
+52f721658ed0e9fef220d2c6bd4c2a332506427f	The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with @PHENOTYPICFEATURE$ and syndactyly, and @DISEASE$ with other somatic abnormalities.	false
+73dc43ddd94729240c93ffa2c645527b8f9b9e1a	The inherited forms of @DISEASE$ can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with @PHENOTYPICFEATURE$ and syndactyly, and craniosynostosis with other somatic abnormalities.	false
+2e583d9a8cd96e47b9bb74db614d82a9e64dd93d	Pathologic diagnoses included thrombotic microangiopathy, polyoma virus nephropathy, acute kidney injury/acute tubular necrosis, acute and chronic interstitial nephritis, minimal-change disease, "tip" variant of @DISEASE$, membranous nephropathy, amyloidosis, and myeloma cast @PHENOTYPICFEATURE$.	false
+f90505a6f2a40e2974600b5c3c870fe2657d68cd	Pathologic diagnoses included thrombotic microangiopathy, polyoma virus @PHENOTYPICFEATURE$, acute kidney injury/acute tubular necrosis, acute and chronic interstitial nephritis, minimal-change disease, "tip" variant of @DISEASE$, membranous nephropathy, amyloidosis, and myeloma cast nephropathy.	false
+1a367a81ed619a21328335eae0f5661b478dcadb	Nephrologists need to consider the possibility of this heritable syndrome in evaluation of females with @DISEASE$ and to consider their risk for gonadal malignancy, as well as the risk for kidney disease, @PHENOTYPICFEATURE$, and malignancy in their offspring.	false
+48d5196bd7af93b15dbde1cc650159e5072387fc	Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, @PHENOTYPICFEATURE$, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, @DISEASE$, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms.	false
+04a333927fd642323ff7a32a01a0949839d1052b	However, it should be noted that the pathogenic molecules implicated in FSGS (@DISEASE$), myeloma cast @PHENOTYPICFEATURE$, and perhaps other diseases are too small to be removed by most online purification methods.	false
+cfa8a837a0cf6e647ab39db02e6247141beac869	However, it should be noted that the pathogenic molecules implicated in @DISEASE$ (focal segmental glomerulosclerosis), myeloma cast @PHENOTYPICFEATURE$, and perhaps other diseases are too small to be removed by most online purification methods.	false
+95a92ef5d30eb67bf8467239cac9562993d5d990	More @DISEASE$ diagnosed women (57.7%, p value =0.04%) were observed to report copious discharge, vaginal itch (80.8%, p=0.042) and lower @PHENOTYPICFEATURE$ (66.7%, p= 0.041) compared to FGS negative women.	false
+dcab1d835e746639a012acc4d791cc6ef4c06285	More FGS diagnosed women (57.7%, p value =0.04%) were observed to report copious discharge, vaginal itch (80.8%, p=0.042) and lower @PHENOTYPICFEATURE$ (66.7%, p= 0.041) compared to @DISEASE$ negative women.	false
+e9c0fc1a74e53801608dc98432922c05b7d45ff5	Membranoproliferative GN and @DISEASE$ may recur soon after transplantation and rapidly progress to renal failure in marked contrast to grafts with either de novo epimembranous @PHENOTYPICFEATURE$ or minimal glomerular change, lesions that are compatible with prolonged graft function.	false
+a63a5c11c02f67316fe11bbaba76468d7c589bf1	Here we show that a related disease, Frasier syndrome, characterized by @DISEASE$, delayed kidney failure and complete @PHENOTYPICFEATURE$, is probably caused by specific intronic point mutations of WT1 that preferentially affect a CpG dinucleotide.	false
+d09f70c03673df125073b5a254ac6edf65b062e4	In Cox regression, male gender, older age, end-stage renal disease caused by obstruction, tuberous sclerosis, @DISEASE$, as well as acquired @PHENOTYPICFEATURE$, were independently associated with RCC.	false
+f9419217aca5bcd6392a6ffd8e7fa7e7877454de	Defects in the cilia themselves, or the machinery required to assemble them, lead to a broad spectrum of human disease symptoms, including @DISEASE$, nephronophthisis, hydrocephalus, polydactyly, situs inversus, retinal degeneration, and @PHENOTYPICFEATURE$.	false
+ab52a8d7a840b4ff0eeb092c6545cf931d14d41c	Defects in the cilia themselves, or the machinery required to assemble them, lead to a broad spectrum of human disease symptoms, including @DISEASE$, nephronophthisis, @PHENOTYPICFEATURE$, polydactyly, situs inversus, retinal degeneration, and obesity.	false
+87661ff213c25c94e17a240e6dfca23923cc7cea	@PHENOTYPICFEATURE$ associated with adult @DISEASE$.	false
+bc159a1861cb85127996ccc89a6754d811352aac	Vasopressin receptor antagonists, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+406ff5a0b59b815552072c4983c466aa7ad3c6ec	@DISEASE$, and @PHENOTYPICFEATURE$.	false
+a9843c402510a4d7d21edc0da1e6be6487972040	Adult @DISEASE$ is frequently associated with gastrointestinal and @PHENOTYPICFEATURE$.	false
+7a587c54977c2f68cbc41e41bbfffb6baa81d936	Finally, we show how the study of nephrogenesis is beginning to shed light on the aetiology of a range of disorders that include @PHENOTYPICFEATURE$, renal tumours, and inherited glomerular and @DISEASE$.	false
+5b7ac9055b6afed54478bf7f8116a50c3bbc14e8	Its coexistence with other @PHENOTYPICFEATURE$ like hypertrophic obstructive cardiomyopathy (HOCM) or @DISEASE$ (PKD) had been reported in the past.	false
+3da45139afba4f57fcaec7ff30f23467c00ceb9a	@DISEASE$ (PKD) is associated with an increased incidence of hypertension and @PHENOTYPICFEATURE$.	false
+845408fa9a76e8b6745778ac07e0e6b8acfa6761	Defects in cilia are associated with several human disorders, including Kartagener syndrome, @DISEASE$, nephronophthisis and @PHENOTYPICFEATURE$.	false
+09d30a28324836a3ccbc4961faf213d530404128	Some C. elegans TRPM, TRPP, and TRPML members exhibit cellular functions similar to their vertebrate homologues and have provided insights into human diseases, including @DISEASE$, @PHENOTYPICFEATURE$, and mucolipidosis type IV.	false
+9698256452439aa4569f196704d8aef9cd59d79d	We report on an 8-month-old girl with intra-uterine @PHENOTYPICFEATURE$, microcephaly, incomplete cleft lip, axial hypotonia, failure to thrive, and @DISEASE$ (phalangeal agenesis and absence of nails).	false
+4962756043688988ee423d04acd16a4daced6be6	@DISEASE$ is a pathological condition consisting of a placental functional deficit with multifactorial etiology; it can cause maternal complications such as @PHENOTYPICFEATURE$, proteinuria, hypertension, etc.	false
+a5242c3b5fa69f38a2c2c76969c0a851d4dd7b92	Examination revealed bilateral fundus oculi albinoticus, mild iridic @PHENOTYPICFEATURE$, @DISEASE$, and poor visual tracking.	false
+b7816f493575245e46949fea1ca77bcd034fb59f	The patients become blind by the age of two years with @DISEASE$ and retinal @PHENOTYPICFEATURE$ as the main ophthalmoscopic features.	false
+5f07af1d9dad94b143f129e533817634b8c13c22	@DISEASE$, hearing loss, and @PHENOTYPICFEATURE$.	false
+bf62c2dbefe97db19ae5cf1db633740b522ee04a	Additional features were @DISEASE$, @PHENOTYPICFEATURE$, and learning difficulties.	false
+6a5889cba66347e83a74295b3e369de8e572b31c	This disorder involves progressive @DISEASE$, abnormal electroretinography without retinal @PHENOTYPICFEATURE$, and progressive sensorineural hearing loss usually evident in the first or second decade of life.	false
+fa397109d2128bc83708415f7e57332b87edfbc0	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus and @DISEASE$.	false
+4c383f8c6d8942a924603b20c41a73f3d183bdaf	Clinical course was characterized by progressive pancytopenia, recurrent infections and @PHENOTYPICFEATURE$ with convulsions, nistagmus and @DISEASE$.	false
+4f63e0955d62de325c3eb06d52c70a011e57755f	Complicated hereditary spastic paraplegia with @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation.	false
+a8bb9a6bdc26aa89ebef9fb9e89b3c6b2f1e4491	@PHENOTYPICFEATURE$, retinal scars, retinopathy of prematurity (ROP), achromatopsia and @DISEASE$ etc., were included in this longitudinal study.	false
+bd1b0657d96f928af3d5f196c744b9f636547d5a	congenital cataract, @DISEASE$, hypoplasia maculae, high refractive error, @PHENOTYPICFEATURE$ ect.	false
+d8d89d9e42e546d8cd03d9d20b511d35cb0d4d16	A father and daughter had the characteristic findings of @DISEASE$ including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral @PHENOTYPICFEATURE$ of second to third and fourth to fifth toes.	false
+6f59b790b48606c7a93779a38a780f421c8a448e	Oculodigitoesophageoduodenal (ODED) syndrome (also known as "@DISEASE$") is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning @PHENOTYPICFEATURE$, and esophageal/duodenal atresia.	false
+a04ebdc593ac7c8e3956c739e8a6ce862d641537	@DISEASE$ is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning @PHENOTYPICFEATURE$, syndactyly and cardiac defect.	false
+f25b1bda26c8a37cab3f273bc933f0bc159a4cc8	@DISEASE$ is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, @PHENOTYPICFEATURE$ and cardiac defect.	false
+8edcba0cbe8036a4c07e74b04126bb3719559d5a	Investigation on the relationship between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cc816c12a50a9eace83078c1b1bdcb64d3f9596a	This study focuses on investigating the relationship between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+22d4d31d2e8111c3950d41fceae3e32ad23293eb	@PHENOTYPICFEATURE$ are reported in @DISEASE$ (DM2).	false
+9a6f66ff646ad6d6b12c81da7adfd44786495b39	@DISEASE$ (PCH1b) is an autosomal recessive disorder that causes @PHENOTYPICFEATURE$ and spinal motor neuron degeneration, leading to mortality in early childhood.	false
+6d7305ad8b14742aa786efd6ad33269b8c02279b	Creatine monohydrate given orally led to a long-lasting improvement of muscular weakness and @PHENOTYPICFEATURE$ in a girl with @DISEASE$.	false
+c4560335f75e50eb83d06127ed471514deb727d5	Numerous papers have described similar patients around different anatomic locations; however, rare document previously reported that intracranial @PHENOTYPICFEATURE$ was associated with @DISEASE$ (ccRCC).	false
+5d5273ec43a63de0e9550e7b841041f5f5a09c22	Ectodermal dysplasia is characterized by ectrodactyly often associated with @PHENOTYPICFEATURE$, sparse hair, dry skin, hypo-@DISEASE$, dysplastic nails and alterations in sebaceous glands, mammary glands and nipples.	false
+ec25f5ff9f1a2744462929eaa7702b2d5f69de23	Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial @DISEASE$, genital hypoplasia, @PHENOTYPICFEATURE$, and delayed skeletal growth and maturation.	false
+9200e6994c4894ed1cbeed2afc9690d92bff6441	@DISEASE$ (DBA) is characterized by a defect of erythroid progenitors and, clinically, by @PHENOTYPICFEATURE$ and malformations.	false
+1a25c312dcf35fe2b48341b3ae3f5cb2b260faa7	We report a child with @DISEASE$ who has significant complications from iron overload due to chronic blood transfusion, and one of these complications is acquired platelet function defect that manifests with frequent episodes of @PHENOTYPICFEATURE$.	false
+aa29064b4c77ed55428f354c7729ef336196f387	@DISEASE$ is a congenital hypoplastic anemia with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and @PHENOTYPICFEATURE$.	false
+6b46074ac1a614b515bd7681e2ccf33d7e9fe2c4	Blackfan-Diamond anemia is a @DISEASE$ with a birth prevalence of about 1 in 200,000, usually presenting in the first few months of life and commonly associated with cardiac, urogenital and @PHENOTYPICFEATURE$.	false
+3678b16770c8142ec39467be24313dbb8e23aa17	@DISEASE$ (BDA) is a rare hypoproliferative @PHENOTYPICFEATURE$ occurring in infancy or in early childhood.	false
+a96ab7d5f1f43ee4b8343a991c6a67ba31795019	@DISEASE$ (DBA) is a congenital BM failure syndrome characterized by hypoproliferative @PHENOTYPICFEATURE$, associated physical abnormalities, and a predisposition to cancer.	false
+45a4dafda786b2a93060840aa1b1f708fbb8df7f	@DISEASE$ (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative @PHENOTYPICFEATURE$, associated physical malformations and a predisposition to cancer.	false
+e21e1ec5fabceb945fd8b1c9736b8238dd35c1b3	A deficiency of some ribosomal proteins (RPs) impairs processing and causes @DISEASE$ (DBA), which is associated with @PHENOTYPICFEATURE$, congenital malformations and cancer.	false
+07f2db1ce122dc21222cd2715f858c9b82f2a508	@DISEASE$ (DBA) is a lineage-selective inherited bone marrow failure syndrome characterized primarily by @PHENOTYPICFEATURE$ and physical malformations.	false
+a70396f9198200725e9680421484c2f48c370daa	Deficiency of ribosomal proteins (RPs) leads to @DISEASE$ (DBA) associated with @PHENOTYPICFEATURE$, congenital defects, and cancer.	false
+9a4affaf371ac48ad09cd5eae9b8de19542201b5	@DISEASE$ is a rare congenital hypoproliferative @PHENOTYPICFEATURE$ of infancy and early childhood.	false
+d24adac0e7d6497b5a2f160b8c4f365a605c5880	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant @DISEASE$ syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and @PHENOTYPICFEATURE$.	false
+a8312206a31d3752325203c765cea32847213a34	Although other auto-inflammatory disorders such as, @DISEASE$, Muckle-Wells syndrome, and Behcets disease have been associated with various forms of uveitis, Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis has never been reported to be associated with any type of @PHENOTYPICFEATURE$.	false
+eb0b195265594f7b2f377b3f702bcc3371a734a1	A new form of insulin resistance with @PHENOTYPICFEATURE$, fatty liver, and @DISEASE$.	false
+9df1af222cd74613ad321af61fded184fb5fc68f	Neurofibromatosis with aqueductal stenosis and @PHENOTYPICFEATURE$ presenting as @DISEASE$.	false
+8dcf3268bb495bc201b16bbcd56990a6f1fe1d24	Clinical complications include liver cirrhosis, @PHENOTYPICFEATURE$, @DISEASE$, and diabetes.	false
+047bd739d526abe8a55bfd68d33a8903055c1e91	@PHENOTYPICFEATURE$ and @DISEASE$ are the most frequent clinical problems encountered in patients with juvenile idiopathic hemochromatosis (JIH).	false
+4e5342cffb42c401dbea83460f2071e74e13f606	Most subjects with beta-thalassemia major have @DISEASE$ state, impairment fertility and @PHENOTYPICFEATURE$.	false
+5289750769a7de0def5b5a91cff6af78658c3341	The hyperprolactinemia, @DISEASE$, hyperaldosteronism and @PHENOTYPICFEATURE$ subsided with the administration of bromocriptine 5 mg/day.	false
+01a63485ff31732fe6f9431f8c56f1d47d885979	A 20-year-old man had minor anomalies ichthyosis, @PHENOTYPICFEATURE$, varicose veins, and @DISEASE$.	false
+b101cb72f44c66263e2622ff7ae0d2c56d163066	@DISEASE$ has been identified as a cause of partial or complete failure of puberty, may be familial and may have other associated abnormalities of hyposmia, intellectual retardation, perceptive @PHENOTYPICFEATURE$, color blindness, skeletal deformities, and gynecomastia.	false
+892ee94a2e6e19bb99b1501c30153051f04ac167	We reported two cases of long-standing @DISEASE$ presenting with wasting, bradycardia and @PHENOTYPICFEATURE$.	false
+a248a64c122f0ebc69f2ae1c335fbbfb6e8d8847	Varying degrees of endocrinopathies were present, including @DISEASE$, hypercortisolemia, and nonthyroidal illness syndrome, resulting in bradycardia, gastroparesis, hypothermia, acute systolic @PHENOTYPICFEATURE$, and erectile dysfunction.	false
+5b0315203974aa3044a856d62fa8dea66e6edcdb	In @DISEASE$ two distinct diffusion MRI patterns were observed by quantitative evaluations of the ADC maps; cytotoxic @PHENOTYPICFEATURE$-like (ADC values, 0.52+/-0.03	false
+31ef05203be334ebafeea332d1ea1154b403b34f	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, @PHENOTYPICFEATURE$, myoclonus epilepsy, @DISEASE$, galaktokinase deficiency, homocystinuria, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	false
+466bcea4f085f8e297d10c4fb8ef59abe5f11ce5	We review the literature on cardiac manifestations of @DISEASE$ and emphasize that patients with Wilson's disease should be assessed for @PHENOTYPICFEATURE$ and cardiac dysfunction as these may have therapeutic and prognostic implications.	false
+97e473c70fd84cc9f194e7ade4d44ba43e0c92cd	We review the literature on cardiac manifestations of Wilson's disease and emphasize that patients with @DISEASE$ should be assessed for @PHENOTYPICFEATURE$ and cardiac dysfunction as these may have therapeutic and prognostic implications.	false
+af3ae346403fe4659c2bd288d7cd80e94482ba09	@PHENOTYPICFEATURE$ in @DISEASE$: An oversighted and overlooked entity!	false
+86890e3c4518affb6c382fd006d00698de82040e	@DISEASE$ (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib @PHENOTYPICFEATURE$ syndromes (SRPS).	false
+0fa8352e1cf6125cdf44d0dfd5a9b4a9ad24f4fc	Jeune asphyxiating thoracic dystrophy (JATD; @DISEASE$, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib @PHENOTYPICFEATURE$ syndromes (SRPS).	false
+5bf15b01794acec64830dd433de9f8e58ad6fa9f	Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (@DISEASE$) without major @PHENOTYPICFEATURE$, renal or retinal involvement.	false
+4c5a26a759241821712c81d60246029296fbe216	Partial mutation of intraflagellar transport 80 (IFT80) in humans causes Jeune asphyxiating thoracic dystrophy (@DISEASE$) and short-rib @PHENOTYPICFEATURE$ (SRP) syndrome type III.	false
+88181e036737fb14de09fe5d9812c45a3638e855	Partial mutation of intraflagellar transport 80 (IFT80) in humans causes @DISEASE$ (JATD) and short-rib @PHENOTYPICFEATURE$ (SRP) syndrome type III.	false
+0fbdbfe2931340b3afe0b287d97d4b555dedef43	Partial mutation of IFT80 in humans causes diseases such as @DISEASE$ (JATD) and short rib @PHENOTYPICFEATURE$ (SRP) type III with abnormal skeletal development.	false
+b424c6669e52b3e1aab91144a16edace5be7e81d	Partial mutation of IFT80 in humans causes diseases such as Jeune asphyxiating thoracic dystrophy (@DISEASE$) and short rib @PHENOTYPICFEATURE$ (SRP) type III with abnormal skeletal development.	false
+243456545155410698d251fe7b67e80e6086914c	@DISEASE$ and short-rib @PHENOTYPICFEATURE$ type III (Verma-Naumoff) are variants of the same disorder.	false
+6364f656aa699f83fbe315b852e2bb1c702472dd	IFT80 is a newly defined IFT protein and partial mutation of IFT80 in humans causes diseases such as Jeune asphyxiating thoracic dystrophy (@DISEASE$) and short rib @PHENOTYPICFEATURE$ (SRP) type III, both characterized by abnormal skeletal development.	false
+eb13e6cca36c444cf424d75820d3ee45c315e394	IFT80 is a newly defined IFT protein and partial mutation of IFT80 in humans causes diseases such as @DISEASE$ (JATD) and short rib @PHENOTYPICFEATURE$ (SRP) type III, both characterized by abnormal skeletal development.	false
+0ce82a6d5d7be52d55750b1802ca29e1c5827c4c	Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (@DISEASE$) and short rib @PHENOTYPICFEATURE$ (SRP) type III.	false
+3da47ae2c8d5835eafe23ab864de4bdd6e0c4e8d	Mutations in IFT80 cause @DISEASE$ (JATD) and short rib @PHENOTYPICFEATURE$ (SRP) type III.	false
+c54afee959f22a3df23c5e29c94af0352c7187b5	@DISEASE$ (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by @PHENOTYPICFEATURE$, and renal, liver and retinal disease.	false
+a006f3f92636bb9e8a549c3fa38145263ab20032	Jeune asphyxiating thoracic dystrophy (@DISEASE$) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by @PHENOTYPICFEATURE$, and renal, liver and retinal disease.	false
+f7fb1e5c89ffc6bec2545c835830bf3562b3636b	Partial loss of IFT80 function leads @DISEASE$ (JATD) or short-rib @PHENOTYPICFEATURE$ (SRP) syndrome type III, displaying narrow thoracic cavity and multiple cartilage anomalies.	false
+b43939092bb2b9629cb42f5886e26fe335894a58	Partial loss of IFT80 function leads Jeune asphyxiating thoracic dystrophy (@DISEASE$) or short-rib @PHENOTYPICFEATURE$ (SRP) syndrome type III, displaying narrow thoracic cavity and multiple cartilage anomalies.	false
+7754c866f11ab4399c17a457d28bcce701458202	Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib @PHENOTYPICFEATURE$, and @DISEASE$ are associated with respiratory complications arising from rib cage dysplasia.	false
+5b6623e882d84abfff89135cd2cd906ced25636c	We present the 1st autopsy findings of a child who had Johanson-Blizzard syndrome (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+865d5ff04c1a835854e47f810236e08ed0fa0ce3	We present the 1st autopsy findings of a child who had @DISEASE$ (JBS) and @PHENOTYPICFEATURE$.	false
+d3bb9fbf6ffad775e46a4a0c8f13b458f5f4205f	@DISEASE$ (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+47d6d4a4f790c640cb87725eb40811085869f2fd	Johanson-Blizzard syndrome (@DISEASE$) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and @PHENOTYPICFEATURE$, short stature, and cognitive impairment of variable degree.	false
+bb929f0f387ba77a861f4f6956485d5293ca6a32	The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, Shwachman-Diamond syndrome and @DISEASE$), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, hypercholesterolemia, @PHENOTYPICFEATURE$ and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis.	false
+1fb85d163c43b964b793304a9b1ce0fce434e7df	The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, Shwachman-Diamond syndrome and @DISEASE$), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (hypertriglyceridemia, @PHENOTYPICFEATURE$, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis.	false
+0daf2e948238121b8fc39373d5abd79cdcdea910	Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/@PHENOTYPICFEATURE$ and @DISEASE$ are discussed.	false
+e51abc34569da5e0cf70c22fcb4e8d773ad92cc4	@DISEASE$, inguinal hernia, and lower @PHENOTYPICFEATURE$ occurred with equal frequency, suggesting their association with CCVMs by chance alone.	false
+c06ba395d66f4d3bb74b5241ee15b83b61ebd956	We present a rare case of huge SCT causing multiple fetal disruption defects like @DISEASE$ and @PHENOTYPICFEATURE$ besides hydrops.	false
+5dbfdd6e5644c7ea88947bee51c4d46192a836c1	@DISEASE$ is known to be associated with a number of other @PHENOTYPICFEATURE$.	false
+33092ae0d27fd1ea88d6e2fc1d59da210ed082b6	TBX22 mutation associated with @DISEASE$, hypodontia, and @PHENOTYPICFEATURE$.	false
+dc3ac8a685abf978cf277e8fa03c91df5a58d818	Distinctive collection of fetal anomalies: @DISEASE$, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and @PHENOTYPICFEATURE$.	false
+70325ca090e79f53c0ef61da7f72cb22f49987e8	Frontal bossing, hypertelorism, Sprengel deformity, @PHENOTYPICFEATURE$, and @DISEASE$ were seen among affected children/teenagers but not among their unaffected siblings.	false
+2e6fc661ded3d3a29beba9e900648fe8bac7297e	Other clinical features were frontal bossing, kyphoscoliosis, @PHENOTYPICFEATURE$, coalitio, @DISEASE$, eye anomalies, milia and syndactyly.	false
+1132f2c0de0570d05836d551c6d550bb535c73fa	We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of @DISEASE$ and @PHENOTYPICFEATURE$ confirmed by means of post-termination examination on the second fetus.	false
+e21f7e5ec129b84d1989adde081b036a78387a88	The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-@DISEASE$ (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and @PHENOTYPICFEATURE$.	false
+a3c4bdd7fbbaf68e7b40e76ecf31ae3fb2908e1a	The cardinal features of Ectrodactyly, Ectodermal dysplasia, @DISEASE$ (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and @PHENOTYPICFEATURE$.	false
+c29de0764ddffa699f3021b2e757a699a4842d6e	A pilot study of acupuncture at pain acupoints for @DISEASE$ @PHENOTYPICFEATURE$.	false
+16bd0258d3babaf2a7341836c938b84166538527	A 35-year-old woman with @DISEASE$ showed Gottron's papules, severe @PHENOTYPICFEATURE$, and diffuse ground-glass opacities on chest computed tomography.	false
+e4a9a8b42b947d7d349c8a4aa9d3feadc286e727	To investigate the temporal patterns of anorexia, diarrhea, @PHENOTYPICFEATURE$, and leukopenia in chemoradiation therapy (CRT) for @DISEASE$ compared with radiation therapy (RT) alone.	false
+8b0d2f6a54675ed5f44249f9dd2197e20f89bef7	This retrospective study aimed to investigate the feasible effectiveness of acupuncture at pain acupoints for the treatment of patients with @DISEASE$ @PHENOTYPICFEATURE$ (CCP).	false
+0a18588a883d34b14640377309254866f05d83ff	Incidence and temporal pattern of anorexia, diarrhea, @PHENOTYPICFEATURE$, and leukopenia in patients with @DISEASE$ treated with concurrent radiation therapy and weekly cisplatin: comparison with radiation therapy alone.	false
+0b928afd4663a7b4e6145c757cac4dbccf418a89	TCS has been reported to inhibit cell growth of a diversity of cancers, including @DISEASE$, choriocarcinoma, and @PHENOTYPICFEATURE$/lymphoma, etc.	false
+cc0606242d94eabd4dcfc338d15aac4a6ee465ae	The study was performed with 5 different human cell lines for the study of lung, @PHENOTYPICFEATURE$, prostate, colon and @DISEASE$ by using Sulphorhodamine B (SRB) assay.	false
+47620cec04368e9dce2b486ccce3d24d9cc4f91d	Several recent studies have identified and/or characterised specific interactions from various disease systems, including @DISEASE$, bacterial infection, @PHENOTYPICFEATURE$ and neurodegenerative disease.	false
+c2aaa380eb6a397290358331b5d84a5b3c6600bb	Finally, data regarding DU exposure and cancer insurgence will be critically analyzed, including @PHENOTYPICFEATURE$/lymphoma, lung cancer, @DISEASE$, breast cancer, bladder cancer and testicular cancer.	false
+6df0a39bad8fb2639c665692852fa2e9407b2df9	Gynecologists may be consulted regarding pubertal concerns; heavy menstrual bleeding and @PHENOTYPICFEATURE$; sexuality; contraception; ovarian function, including fertility preservation; and breast and @DISEASE$ screening.	false
+29922a6e9edccd780cbda308d2f8ab2baf0db5da	We present a case of metastatic @DISEASE$ involving the pituitary gland of a 23-year-old woman with multiple endocrine neoplasia type 2b who presented with diabetes insipidus and @PHENOTYPICFEATURE$.	false
+d891944e139602323f5446f6270c8a7ea8113048	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 papillary thyroid carcinoma, 156 @PHENOTYPICFEATURE$ [FTC], 50 anaplastic thyroid carcinoma, 65 @DISEASE$, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+16cc002bf5d4ddc28b014ae7082e82ad73f9df38	The current list of these disorders includes (but is not limited to) numerous neurodegenerative diseases, @PHENOTYPICFEATURE$, arthritis, @DISEASE$, late-onset diabetes mellitus, symptomatic (hemodialysis-related) beta(2)-microglobulin amyloidosis, arthritis and many other systemic, localized and familial amyloidoses.	false
+268bd4e048834a85ac46c9d0442d95223485f69f	@DISEASE$ (KTS) is characterized by the triad of capillary malformation, venous malformation with or without lymphatic malformation, and limb @PHENOTYPICFEATURE$.	false
+c8096d398e2896bab27f577b7b101dfd32d47015	@DISEASE$ with @PHENOTYPICFEATURE$: an unusual association.	false
+7476b99e3e3e607dc679c77fc9df9485e9dc95af	[Anesthetic management for a pediatric patient of @DISEASE$ with giant head by @PHENOTYPICFEATURE$].	false
+05fc98a0343d824546211dccf3de94ced28e69d9	@DISEASE$ is defined by a coexistence of nevus flammeus and @PHENOTYPICFEATURE$ of one or more limbs.	false
+117de6af0b8bb60ee743866a1579d1538e0a5692	@DISEASE$ in a boy with concomitant ipsilateral @PHENOTYPICFEATURE$ and undergrowth.	false
+f3017d9c6575feea562567a62e39b54c3424088a	@DISEASE$ (KTS) and related @PHENOTYPICFEATURE$ syndromes are rare conditions that often present to academic pediatric units and multidisciplinary vascular anomaly clinics.	false
+227193cd7cdae6d1b5f7cc3af85af6d00618c3bb	Hemiatrophy, enlarged inferior extremity without @DISEASE$ and physical @PHENOTYPICFEATURE$.	false
+dc6da5c6eece63f27c50b5e0ec5f2574e0102d08	@DISEASE$ with labyrinthine bony @PHENOTYPICFEATURE$ and mixed hearing loss, a case report.	false
+bdeba9f16cee53cae11f75ecec1fe95d37e8cd04	The association of soft tissue and bony @PHENOTYPICFEATURE$, varicose veins and port-wine nevus is known as @DISEASE$.	false
+bd598c7178d08aaca95a5b70897fc4b09df41dc5	Referring diagnosis was @DISEASE$ (n = 4), diffuse capillary malformation with @PHENOTYPICFEATURE$ (n = 3), or lymphatic malformation (n = 1).	false
+1a66e6f596e3779fe690bf6f98805dd3f4a9c5aa	The laboratory findings revealed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b288928dbe9b0b2099aa856d0bba9c263f3c3eca	@PHENOTYPICFEATURE$ is rare and autoimmune disease is common in adults with idiopathic @DISEASE$.	false
+518d4c68f6975eac293a42381912a9505b971471	APS1 should be part of the differential diagnosis in children presenting with isolated hypoparathyroidism or @PHENOTYPICFEATURE$ with @DISEASE$ (CDI).	false
+10db067d51345c08a6b790e50d6fa49aa38ddffd	APS1 should be part of the differential diagnosis in children presenting with isolated @PHENOTYPICFEATURE$ or hypoparathyroidism with @DISEASE$ (CDI).	false
+ef0441e4796053bb3df1d9da95d34db1d33b3403	Whole exome sequencing ruled out known genetic causes of @DISEASE$, adrenal insufficiency and @PHENOTYPICFEATURE$.	false
+01f41652beb9c7b9d1588bc00c41596c57396479	@PHENOTYPICFEATURE$ and @DISEASE$: perioperative diagnosis and management.	false
+9189427203659dd5a1e97005834b552d8529c01c	After surgery, he suffered from @DISEASE$, hypopituitarism and @PHENOTYPICFEATURE$, with serum PRL level of 491 ng/ml.	false
+961a64c28136c1ba042eb25d5b6a3f66688386e9	After surgery, he suffered from @DISEASE$, @PHENOTYPICFEATURE$ and hyperprolactinemia, with serum PRL level of 491 ng/ml.	false
+b77715c028290ef8e1c0363f9e108ae2b5199b90	Manifestations were @PHENOTYPICFEATURE$ in 26.2% (22 cases), @DISEASE$ in 17.9% (15 cases), and panhypopituitarism in 52.4% (44 cases).	false
+c5ca588035255d7ca91abcb1f2a978e5d9ca4784	A 53-yr-old patient was admitted owing to @DISEASE$ and partial @PHENOTYPICFEATURE$.	false
+ccb7f09f10a4866cb935cbe9b6ccc9cb49e640a7	We report a case of @PHENOTYPICFEATURE$ showing recurrent pituitary mass associated with @DISEASE$.	false
+ffd991a20bc1c11f03424c6b3c04b5285a328ef3	When pituitary lesions are caused by MTX-LPD, the possibility of @PHENOTYPICFEATURE$ and @DISEASE$ needs to be considered.	false
+f95a0a3c505c0461421f3681c379c8618a5943ff	Popliteal pterygium syndrome shares features with @DISEASE$ but, in addition, is characterized by genital anomalies, @PHENOTYPICFEATURE$ of fingers and toes, and toenail dysplasia.	false
+4c19a08e48060750d00ffd76bad16b3d394d38fa	Van der Woude syndrome (@DISEASE$) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+0fe4fb747496ba3c030e69f0cbd9d9feb045f87a	@DISEASE$ (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders characterized by combinations of cleft lip, CLP, lip pits, skin-folds, @PHENOTYPICFEATURE$ and oral adhesions which arise as the result of mutations in interferon regulatory factor 6 (IRF6).	false
+376b4d3750b8c2978f50b75250dc2b8d22f2bd08	[Diagnosing silent cardiac @PHENOTYPICFEATURE$ via ambulatory blood pressure monitoring: early diagnosis shown by the lack of heart rate circadian rhythm @DISEASE$].	false
+4ce2af8dc05572b24e53f8a8474938fa724f5470	Insulin resistance is well recognized both @DISEASE$ (T1DM) and in @PHENOTYPICFEATURE$.	false
+e3508e9f483863369a496d44bbebd5974a00ce1c	Risk factors for CAN are mainly glycaemic control @DISEASE$ (T1DM) and, in addition, hypertension, dyslipidaemia, and @PHENOTYPICFEATURE$ in type 2 diabetes mellitus (T2DM), while preliminary data regard glycaemic variability, vitamin B12 and D changes, oxidative stress, inflammation, and genetic biomarkers.	false
+c929afa21198c95cc57619f932c602458ef75ada	Circulating amylin is increased in @PHENOTYPICFEATURE$, hypertension and pregnancy, while it is absent @DISEASE$.	false
+17b6318a1dff250a3b1e554ad32284d990bfeaa0	Here we investigated glucagon-suppressive effects on circulating total and acyl-ghrelin, both in @PHENOTYPICFEATURE$ and @DISEASE$ (T1DM), with respect to the role of glucagon in appetite control.	false
+ae29f3780759b94346894fb32180bc2a84f2a674	There is growing evidence for the involvement of immunological factors in the pathogenesis of cardiac @PHENOTYPICFEATURE$ @DISEASE$ (DM).	false
+98f18328b0b9c3e759ad4a9f859fbe3db1a0947f	Evidence for specific autoimmunity against sympathetic and parasympathetic nervous tissues @DISEASE$ and the relation to cardiac @PHENOTYPICFEATURE$.	false
+ae15ceb728e449062b016b7d34a5ba7f11c8a9e9	Conversely, little is known about the efficacy of BS @DISEASE$ (T1DM) patients, despite the increasing prevalence of @PHENOTYPICFEATURE$ in this population.	false
+3b2fb03df4e59ff26d73720b1c5273302503f7b5	Despite falling incidence, particularly @DISEASE$, @PHENOTYPICFEATURE$ remains ?2-fold higher than in people without diabetes mellitus, with higher case-fatality in those with type 1 diabetes mellitus.	false
+1d2ac5d5e387a0a12c0708193a088330faf8d35a	This study indicates that there is association between hyperglycaemia, oxidative stress (LPO), anti-oxidants (GSH, SOD and catalase), inflammatory cytokines, gut motility (OCTT), and small intestinal @PHENOTYPICFEATURE$ @DISEASE$ patients.	false
+7565d2188bb4864bafd1e0107edf662cca1b2888	The exclusion criteria were presence of a known metabolic disease (such as @DISEASE$), non-opaque stones, need for focusing with ultrasonography, abnormal habitus, @PHENOTYPICFEATURE$, and inability to tolerate SWL until the end of the procedure.	false
+188be19d33e0a7e43f7dd11908b4c065170b1fa4	Associated features which have been described are @PHENOTYPICFEATURE$, Rieger's anomaly, @DISEASE$, facial hemiatrophy and neurofibromatosis.	false
+ff46f08afdf0c7dfa27382851abb9f802febeb7b	Such conditions, include cystic fibrosis, HIV/AIDS, @PHENOTYPICFEATURE$, Alstrom syndrome, hypophosphatasia, @DISEASE$, Tricho-dento-osseous syndrome, tuberous sclerosis, familial steroid dehydrogenase deficiency and epidermolysis bullosa.	false
+407feb04138c7e0ba9885ddf5763c406e640ad46	We encountered a case of @DISEASE$ in a 29-year-old male patient with proliferative diabetic retinopathy and @PHENOTYPICFEATURE$.	false
+744cb34b78c24eb13e909c31609d789bde341dc6	Molecular characterization of a unique de novo 15q deletion associated with @DISEASE$ and central @PHENOTYPICFEATURE$.	false
+8e6c819e700deee77f36a82bc48301cd59e96562	Cataracts have been described in @DISEASE$ but we could not find any description of @PHENOTYPICFEATURE$ in Angelman syndrome.	false
+5ec7ee232a9760d725a8187b8a2d93f8407d076b	The association of @DISEASE$ with breathing disturbances such as sleep apnea syndrome and/or @PHENOTYPICFEATURE$ during REM sleep, REM sleep abnormalities and excessive daytime sleepiness is well known.	false
+776703d605f19cf79aa48867bb8390e4808f252f	Apart from fragile X syndrome and @DISEASE$ (with in general mild to moderate ID), the other syndrome groups contained one or more subjects with @PHENOTYPICFEATURE$ or blindness.	false
+5443404eb93a6503dbd5c6ab6e91f3dbaa07545c	The case of a 57 year old man with @PHENOTYPICFEATURE$, hypertension and insulin dependent diabetes mellitus caused by @DISEASE$ is reported.	false
+4da3ea0a54533ae2f6264d4850127f92864d83ec	This report is of a patient with spontaneous rupture of @DISEASE$ who presented with @PHENOTYPICFEATURE$ and a tender abdominal mass.	false
+5a6eeb44ca68a40844f81af29fc14688d587e0ae	Procalcitonin (PCT) levels are below the detection level in healthy subjects, while pre-procalcitonin mRNA is over expressed in human medullar thyroid carcinoma, in small cell @PHENOTYPICFEATURE$, and occasionally in other rare neuroendocrine tumors such as @DISEASE$.	false
+3421d4bbf491b9dd46728a7b4231b609f33d25e3	We report a case which presented with @PHENOTYPICFEATURE$ and severe respiratory distress due to a ruptured haemorrhagic @DISEASE$.	false
+daa639a205960dd1e68b532a658a73f129005f92	@DISEASE$ presenting as acute circulatory collapse and @PHENOTYPICFEATURE$.	false
+d21c520faf0f0b0a56db5a69bb674a02df176190	The case illustrates the similarities in presentation of @PHENOTYPICFEATURE$ and @DISEASE$, and the possibility that misdiagnosis may exacerbate the crisis.	false
+70b6ef9b6540d8c8f3146a23b61f727a8e5caf1c	The authors report a case of apparently isolated bilateral adrenal @DISEASE$ in a 25-year-old man presenting with @PHENOTYPICFEATURE$ and neurosensory signs of HT, but ignored and complicated by heart failure.	false
+e5ef51b5710b1d781f8acb881428a96b060fdcce	@DISEASE$ is a rare disorder characterized by normal serum parathyroid hormone, calcium, and phosphate and @PHENOTYPICFEATURE$ (referred to as Albright's hereditary osteodystrophy) that include short stature, short digits, and heterotopic calcifications.	false
+1d4ae480bdaddd32886ddce0101776bce4784f6a	In this review, we aim to examine the increasing number of spectra, including @DISEASE$/Frontotemporal Dementia and ALS/@PHENOTYPICFEATURE$ spectra.	false
+59288c538f2944b93c0f0792fffd0739ff360132	In this review, we aim to examine the increasing number of spectra, including ALS/Frontotemporal Dementia and @DISEASE$/@PHENOTYPICFEATURE$ spectra.	false
+ce6eff09237c2083fb800b21ef2be27f21e92315	@PHENOTYPICFEATURE$ in patients with amyotrophic lateral sclerosis (@DISEASE$) mirror those found in frontotemporal dementia (FTD).	false
+8f7f48ac5f069e88f0014d0e32336fbada4e2ea7	@PHENOTYPICFEATURE$ in patients with @DISEASE$ (ALS) mirror those found in frontotemporal dementia (FTD).	false
+eb8303ccec8fad75533432b471fe9943b3a79071	@PHENOTYPICFEATURE$ have been reported in patients with amyotrophic lateral sclerosis (@DISEASE$) but their aetiology is not yet clearly defined.	false
+ba10b7b6f9287bc0aff2844e5cf369b2060ee3c0	@PHENOTYPICFEATURE$ have been reported in patients with @DISEASE$ (ALS) but their aetiology is not yet clearly defined.	false
+128d759f4e94f8a73ee7fabf0a4dfc2e4d303f8b	In some ALS patients, @PHENOTYPICFEATURE$ or aphasia may be present (@DISEASE$-D).	false
+a076ced4bdaf5be008ce29988acb7f90813dc871	In some @DISEASE$ patients, @PHENOTYPICFEATURE$ or aphasia may be present (ALS-D).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+cc9726c3c996eaa3708ba0689e6398de4fdf077f	@PHENOTYPICFEATURE$ in early @DISEASE$ correlate with voxel-based morphometry and diffusion tensor imaging.	false
+04085f23e1e55d8a66d7c5fe99b1b7ac8facc4fa	@PHENOTYPICFEATURE$ and cognitive impairment in @DISEASE$: a review.	false
+8d2771b92516670f281a46f4ff0d8e817ab6871b	Plugged pores may underlie some @DISEASE$, @PHENOTYPICFEATURE$ cases.	false
+0c99e9438e8ed2ad0f0097919d9d6323c8a48381	Affected Aus-12 members developed either ALS or @PHENOTYPICFEATURE$; some of those with dementia also had @DISEASE$ and/or extrapyramidal features.	false
+e694b8b01f22fabdeda0e479a2bf38df7376f568	Affected Aus-12 members developed either @DISEASE$ or @PHENOTYPICFEATURE$; some of those with dementia also had ALS and/or extrapyramidal features.	false
+173465d50a97f9d3dc60087d150e3e342580648f	Definite @DISEASE$ was diagnosed based on @PHENOTYPICFEATURE$ and electromyography results.	false
+46301128c99dc535b300f5e526485b10a815d224	Hereditary @DISEASE$ (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances.	false
+a3c1913aa0ae7e780cf5e5c2d1ceab43ad50386b	Mutations leading to @DISEASE$ affect three major functional domains in the @PHENOTYPICFEATURE$ necrosis factor family member ectodysplasin-A.	false
+5615242c16a6afeabc949b34955c5902751a9b0d	We describe an unusual case of @DISEASE$ in which @PHENOTYPICFEATURE$ was the main consequence and likely represented VZV reactivation in utero.	false
+441c7c635af10eea7781d319ee9125ffc99f70b9	@DISEASE$ includes @PHENOTYPICFEATURE$, neurological effects as microcephaly, limbs malposition, lung or bowel hyperechogenicity.	false
+214888640221f93b8759320b0a0ff78fe3de13d9	Herein we report a child with @DISEASE$ characterized by low birth weight, cicatricial scarring, hypoplasia of both lower extremities with joint contracture, congenital hip dislocation, @PHENOTYPICFEATURE$, atresia of the sigmoid colon and a rarely associated cloaca anomaly.	false
+bf2fcb11827f853ec2040bd6b4e82fa3fda0bdf1	A biopsy specimen of the @PHENOTYPICFEATURE$ showed a mixture of medium-sized and large lymphocytes infiltrating the subcutaneous fat tissue with a lobular panniculitis-like pattern--a histologic feature of @DISEASE$ (SPTCL).	false
+63fbdae28e7a80e391fbdf1786fbeb48fda3a39c	It was difficult to classify this @PHENOTYPICFEATURE$ in terms of the known types of cutaneous lymphoma, and this case should be differentiated with @DISEASE$ and primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma.	false
+68f3e40596b74b26e80b8a150bd19dfaf14233af	@DISEASE$ is a rare @PHENOTYPICFEATURE$ of primary cutaneous origin representing far < 1% of all non-Hodgkin's lymphomas.	false
+6f90da54a428ec452b88b79f785624b8b62660fa	The 2005 classification of lymphoma proposed the designation of @DISEASE$ exclusively for those @PHENOTYPICFEATURE$ composed of ?/? neoplastic cells.	false
+26fbe75686e9d977e150e310689e0ec5857f068e	@DISEASE$ is a @PHENOTYPICFEATURE$ of cytotoxic T lymphocytes.	false
+a1914b4c39c42f6c2046d81b484f8c08e549e991	Composite cutaneous @PHENOTYPICFEATURE$ of diffuse large B-cell lymphoma-leg type and @DISEASE$.	false
+b923e208ec282ef26607182972202f91f456dff3	This article illustrates a case of a PTCL-NOS in which @PHENOTYPICFEATURE$ cells have an activated cytotoxic TCR??+CD3+CD4+CD56+ T-cell phenotype and histopathologic features of @DISEASE$, leading to a fatal outcome.	false
+f03f4ac52d7a8b3d6d8098652bf93b3a5ac7b795	@DISEASE$ (SPTL) is a rare cutaneous @PHENOTYPICFEATURE$ of mature cytotoxic T-cells.	false
+c1cb219f144768a9158e98418ff573d212215a25	@DISEASE$ (SPTL) is a rare cutaneous @PHENOTYPICFEATURE$ of mature cytotoxic T cells, first described in 1991 by Gonzalez et al.	false
+a39682fde5ec4a72cee8eb7791193e6abfa242c3	Pathohistologic analysis and immunohistochemistry of a specimen obtained by @PHENOTYPICFEATURE$ excision from the back indicated @DISEASE$.	false
+2205dc3dc7c7f036ab36ff43e83472e822b7e836	Other symptoms include movement disorders like @DISEASE$ or abnormal orofacial movements, @PHENOTYPICFEATURE$, cognitive impairment, and symptoms of nervous system hyperexcitability.	false
+5cddcec92c3a0677b543bcfdc9077e788ada1023	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), @DISEASE$ (BD), and isolated congenital @PHENOTYPICFEATURE$, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities.	false
+e05a0ac1e6f506e699afef80f531288c92a288f5	FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), @DISEASE$ (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, @PHENOTYPICFEATURE$, joint dislocation and other unique skeletal abnormalities.	false
+e432126a8c50aa2bbbc80f6d7ae8f7fe6405532f	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8b665163ee0ec64563b50072501fdeb27670416d	A number of investigators have now shown that almost all cases of @DISEASE$ have a dominant @PHENOTYPICFEATURE$ in one allele of the gene for glial fibrillary acidic protein (GFAP) that causes replacement of one amino acid for another.	false
+b90347649eb954bb42654a4e6e95c7407f19a024	@DISEASE$ is a rare disorder of the central nervous system caused by a de novo @PHENOTYPICFEATURE$ in the glial fibrillary acidic protein (GFAP) gene.	false
+c9bee1a6c286ac26d103b4c3715817a8b9611f32	@DISEASE$ in a patient with @PHENOTYPICFEATURE$ and a novel variant: clinical-molecular description and literature review.	false
+233f0a121ed8ebbb6382c6aa4c1d21542f3ab3d0	Loss of function mutations in FGG have been associated with @DISEASE$, while the c.1423G?>?A mutation in TBCD causes a novel syndrome of neurodegeneration and early onset @PHENOTYPICFEATURE$.	false
+bfaf93027ce0c1210d7aa7b43b041368836b1195	The association of @PHENOTYPICFEATURE$ in a patient with @DISEASE$ alerts for a closer follow-up of vascular issues in these patients.	false
+160cd78eb546f70b62b38d92ccf08f961abe7961	@DISEASE$: an inborn error of pyrimidine degradation associated with @PHENOTYPICFEATURE$.	false
+c1c207817774d2bb660251b268624be25f885387	@DISEASE$ caused by a de novo @PHENOTYPICFEATURE$ that originated in exon 2 of the maternal great-grandfather of the propositus.	false
+ff2bb714f9030dde9b03835b60633cca3e303609	In most cases of @DISEASE$, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis and fucosidosis, the imaging pattern gives clues for the diagnosis.	false
+71878276df17da5ae2692e9ae45054eb3351b757	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c16616a5ec0c09dacb5ef6f788e3cdac8c00d1af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+ba50636f6fbc427ff018d23dc63ab5b065775bb3	Disadvantaged socioeconomic status appears to be associated with @DISEASE$ of @PHENOTYPICFEATURE$ at mammography screening.	false
+1ba55672d0f168f276bd0d23ab42045bdbdd19e6	A total of 112 patients with @DISEASE$, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, Salla disease and fucosidosis were included.	false
+c1825d5930c169328eb711683821f9d4ed9afc74	A de novo @PHENOTYPICFEATURE$ (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for @DISEASE$.	false
+cb7e406d683a3e625afbf9138c84ca3c88058417	@DISEASE$, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$, infantile GM1 and GM2 gangliosidosis, Pelizaeus-Merzbacher-like disease and fucosidosis); only two clusters contained multiple diseases.	false
+5922dbcd04110f6ad87ce7dbe1da6c007601b740	A female newborn presenting multiple congenital anomalies with acrocephalosynanky, external auditory canals atresia, @PHENOTYPICFEATURE$, is described as being affected of an @DISEASE$.	false
+ee7603d010ebfae73818f46b87bf36ccbf33f709	One subject had known familial @DISEASE$ type V @PHENOTYPICFEATURE$, prior to conception.	false
+9c214c773358ea8f2fddaf7401b52fe66452025c	We report the successful management of a 4-year-old male child with fetal hydantoin syndrome, cleft palate, @PHENOTYPICFEATURE$, atrial septal defect, and @DISEASE$ for tibialis anterior lengthening under subarachnoid block.	false
+df4ebed19c18ee2ead53443173a759bd6166213c	A case with de novo inv dup del(8p) associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d7621710d655f5e60b7fbff9cddedc20c6251771	@DISEASE$ is characterized by sudden and strong headache, accompanied by vomiting, acuphenos and vertigo, triggered by abrupt movement of the head and can produce deep @PHENOTYPICFEATURE$ and death.	false
+0ce075133677bba614569ba0586035a5ec826449	Here, we report a 38-year-old woman with relapsing attacks of headache, vertigo, nausea, vomiting, and @PHENOTYPICFEATURE$ provoked by head rotation corresponding to the classical @DISEASE$.	false
+0ce075133677bba614569ba0586035a5ec826449	Here, we report a 38-year-old woman with relapsing attacks of headache, vertigo, nausea, vomiting, and @PHENOTYPICFEATURE$ provoked by head rotation corresponding to the classical @DISEASE$.	false
+5690af58880c7ebe232bb353912f0b95bcec6af5	This case may suggest a possible relationship between @DISEASE$ and peripheral ulcerative @PHENOTYPICFEATURE$.	false
+eeb24389551b23c1c45a6f91f51b8ec13ed0dc2e	To assess @PHENOTYPICFEATURE$, diabetes and fractures in relation to corticosteroid doses in the long-term maintenance treatment of patients with @DISEASE$.	false
+507254e8fbe06948f645c7ba995a572092dcf9cb	Binary logistic regression with a generalised estimating equation was used to analyse the association between current corticosteroid use and the incidence of @PHENOTYPICFEATURE$, diabetes and fractures with onset after @DISEASE$ diagnosis.	false
+2b2d59a3f910fcaf1a90bbae39b43f8d3c22d2f2	Steroid-induced @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+cdd10cf1fed2f231a9186a10586e40cffa43f9bb	The mother has a split hand/split @PHENOTYPICFEATURE$ and the daughter a condition consistent with a diagnosis of @DISEASE$.	false
+f14092d7939ebef703d32c4d437c9a2b37eeeb2a	Split hand/split @PHENOTYPICFEATURE$ and @DISEASE$ in a family: overlap between the EEC and LADD syndromes.	false
+2523a0186e4f1e984bf2afa850fa0e1c4e6f07ed	The clinical features of @DISEASE$ include variably, lacrimal system hypoplasia, @PHENOTYPICFEATURE$ (with or without hearing impairment), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly.	false
+93a9496da3ca3ff72dd77246086928884f43ce04	The possible significance of the @DISEASE$ in neutrophils for the diminished cytotoxic response of these cells against the @PHENOTYPICFEATURE$ and precancerous lesion cells is discussed.	false
+e3bde8bbec8f5782d1e586f4d86c67ed0767191f	Mucopolysaccharidosis type VII (@DISEASE$): a chronic variant with an oligosymptomatic severe @PHENOTYPICFEATURE$.	false
+87cbdc684eb1c916c153ab67cb2b0a12e867ce14	@DISEASE$ (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe @PHENOTYPICFEATURE$.	false
+e6620f8bca04eeaf66b100375c8268b6fc4cf71c	@DISEASE$ has a complex clinical phenotype, including @PHENOTYPICFEATURE$, hepatosplenomegally, sensory deficits, cognitive impairment, and premature death.	false
+a250a1e378f57a5475582bd8de71dc6cd0b947f6	Our classification includes: (1) six subtypes of @PHENOTYPICFEATURE$--namely, acute Guillain-Barr? syndrome, chronic inflammatory demyelinating polyneuropathy, mononeuritis multiplex, an axonal, predominantly sensory, painful polyneuropathy, a sensory ataxic neuropathy due to ganglioneuronitis, and an inflammatory polyradiculoneuropathy presenting as cauda equina syndrome; (2) inflammatory myopathies (e.g., polymyositis); and (3) other less common neuromuscular manifestations, such as type II muscle fiber atrophy and @DISEASE$.	false
+1b1ede7c528518eb3858f659be64d474a2b1b76d	Several mutations in the muscle-specific caveolin, caveolin-3, lead to a form of autosomal dominant @PHENOTYPICFEATURE$ referred to as limb girdle muscular dystrophy type 1C (@DISEASE$).	false
+a30eebf1d6b60ba934ebf389afeee8c7acd045ca	To present the clinical, molecular, and cell biological findings in a family with an autosomal recessive form of @DISEASE$ characterized by a combination of spastic paraplegia, @PHENOTYPICFEATURE$, and peripheral neuropathy (SPOAN).	false
+7872993f0229d9f56b8109437601362706707df9	@DISEASE$ and axonal motor neuropathy caused by a novel SPG3A de novo @PHENOTYPICFEATURE$.	false
+77f3d34c694ca6b4b5bd8e1163faef3060ac98be	The diagnosis of @DISEASE$ was based on the clinical presentation (dyspnoea, @PHENOTYPICFEATURE$, crepitant rales) and the complimentary investigations (ground glass appearance on the thoracic CT scan, lymphocytosis in the broncho-alveolar lavage).	false
+e24e99015f4c759fb3596188f920d743c6f3b4a9	Moreover, mitochondrial dysfunction plays an important role in the pathophysiology of several well established nuclear genetic disorders, such as dominant @PHENOTYPICFEATURE$ (mutations in OPA1), Friedreich's ataxia (FRDA), @DISEASE$ (SPG7), and Wilson's disease (ATP7B).	false
+a959368f9b498506146c91cfc3665bdfe4788983	It is apparent from the above discussion that acute stress, such as ischemia and reperfusion, hypoxia and reoxygenation, @PHENOTYPICFEATURE$ and oxidative stress, can rapidly potentiate the induction of genes for certain members of the @DISEASE$ families and for antioxidants/antioxidant enzymes.	false
+0a39cbb7d61934597a38c1dcbe496d382a393dde	When constitutional symptoms such as myalgia, weight loss, fatigue, @PHENOTYPICFEATURE$, and hypertension were added to the clinical picture, the diagnosis of polyarteritis nodosa @DISEASE$ was thought and confirmed by the demonstration of microaneurisms on renal arteries.	false
+772a0bca33088dcc87599d5763d037670c079950	Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of @DISEASE$, which is clinically defined by congenital @PHENOTYPICFEATURE$, infancy-onset progressive spastic paraplegia and peripheral neuropathy.	false
+e81d191c0d26ba9d5ac9acfda79a791b63518249	Spastic paraplegia, @PHENOTYPICFEATURE$, and neuropathy (SPOAN) is an autosomal recessive complicated form of @DISEASE$, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy.	false
+cd612baff835a1354312384f9226218d360a6ce3	@DISEASE$, axonal sensory-motor polyneuropathy and bulbar amyotrophy with @PHENOTYPICFEATURE$: new cases of Troyer-like syndrome.	false
+5869cbfbfa81b54b3ae1b3fd59440a4960745d9a	Genetic defects in mitochondrial dynamics are especially important in neurology as they cause @PHENOTYPICFEATURE$, @DISEASE$, and Charcot-Marie-Tooth disease.	false
+a11c16907cb2dd36fcdf4814409b21b09ebcbfc9	There was also one case of @DISEASE$, spinocerebellar ataxia, and polymicrogyria with @PHENOTYPICFEATURE$, respectively.	false
+3206db3ba8cada4e5a4aa100f2fbc2595fa83a5d	@DISEASE$ (ECCL) is a rare neurocutaneous syndrome characterized by congenital cutaneous, ocular, and @PHENOTYPICFEATURE$, which may be pronounced in the head and neck.	false
+2299db8fcc74ab1549b4b41cbe6236616b8adcac	Decompensated @DISEASE$ ventricular hypertrophy developed as a result of coronary artery narrowing, renal @PHENOTYPICFEATURE$, or the two in combination.	false
+128de4d534b72aee7845aa795aa27ea08934459c	Within the @PHENOTYPICFEATURE$ subgroups, the coronary flow reserve was differentially reduced in the following rank order: concentric remodeling (2.0 +/- 0.7) approximately concentric hypertrophy (2.3 +/- 0.8) < @DISEASE$ hypertrophy (2.9 +/- 0.6) mu normal geometry (2.7 +/- 0.4).	false
+113ed814c1d316ed790e59a3ed6466032e1cd41c	@DISEASE$ (cryptophthalmos with @PHENOTYPICFEATURE$) in the fetus and newborn.	false
+8bae9a46cc5fb5b711443d0e2c5391bdfcd56397	@DISEASE$ is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, @PHENOTYPICFEATURE$, and urogenital defects.	false
+6c1a3e0c1a05199c95f0b2109f627b07eecf54c5	@DISEASE$ (cryptophthalmos [hidden eye]-@PHENOTYPICFEATURE$ syndrome).	false
+f9b738248b898c6c8343fd774a8dbe822a704642	@DISEASE$ (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, @PHENOTYPICFEATURE$ and urogenital defects.	false
+182ad2a1f4f7dcae61276e599c1af70fd70358f1	@DISEASE$ is a rare genetic disorder characterized by cryptophthalmos, @PHENOTYPICFEATURE$ and laryngeal atresia.	false
+adf240ed4cc4b33a2e7448e817659365098afcb9	We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of @DISEASE$ including @PHENOTYPICFEATURE$ (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis.	false
+68cead676d82493a2bbea77641f99dbfe59ac5d1	We present a case of @DISEASE$ with bilateral cryptophthalmos and other common features of Fraser syndrome including @PHENOTYPICFEATURE$ (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis.	false
+e4f4e61bd24751cbf4b5629329038b5bd2ed238e	@DISEASE$ (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, @PHENOTYPICFEATURE$, laryngeal atresia and urogenital defects.	false
+100fac8465ed6db5b70023300eb61ac4d28c7693	Fraser syndrome (@DISEASE$) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, @PHENOTYPICFEATURE$, laryngeal atresia and urogenital defects.	false
+3fb8803c784188021017b3fc1cfb9b7bb5bc1eac	@DISEASE$ is a rare recessive disorder characterized by cryptophthalmos, @PHENOTYPICFEATURE$, renal defects, and a range of other developmental abnormalities.	false
+18d688d7fdf0d9075d7462411c7a0d4ff49a065c	@DISEASE$ is a rare autosomal recessive disorder characterized by renal agenesis, cryptophthalmos, @PHENOTYPICFEATURE$, and laryngeal stenosis.	false
+eb9ca12de95f19bdbff540d3eba0f397ebffd94c	@DISEASE$ (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, @PHENOTYPICFEATURE$ and renal defects.	false
+dd85f4f9d0dd4c4ed27a9c8fa38080c541bcbcda	This association may serve as an indicator of malfunctioning neuroimmune communication in disease states such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+40b902f25202362bcb8ff7b4d1c700cc3c4d7e20	@DISEASE$ @PHENOTYPICFEATURE$; a case report.	false
+9834817cdf514807003b257f3011c05a02f411d0	@DISEASE$ @PHENOTYPICFEATURE$ (TBM) is the most severe form of extrapulmonary tuberculosis.	false
+5a308de7cfac8f7858d4996b3f149df895d832e2	@DISEASE$ @PHENOTYPICFEATURE$ (TBM) is the most severe form of tuberculosis, and currently lacks efficient diagnostic approaches.	false
+5349a099b0c301fdecf37637ca1d92cd2b5d255d	Tuberculosis @PHENOTYPICFEATURE$ (TBM) is the most severe form of @DISEASE$, and currently lacks efficient diagnostic approaches.	false
+50577c0b1de532e313a64f40b66cabd1d8c8b990	Generally, the @DISEASE$ of adenohypophysis is associated with tuberculosis @PHENOTYPICFEATURE$.	false
+6826b921df90e4dea7ff079cf064e3230010eb58	Generally, the tuberculosis of adenohypophysis is associated with @DISEASE$ @PHENOTYPICFEATURE$.	false
+aa4131669bafa1c47ffd459d6acf02222fa3f4e2	@DISEASE$ @PHENOTYPICFEATURE$ (TBM) is the most serious form of infection with Mycobacterium tuberculosis.	false
+119017473cf3769f81f85680cc131e02d208cc5c	Tuberculosis @PHENOTYPICFEATURE$ (TBM) is the most serious form of infection with Mycobacterium @DISEASE$.	false
+a3f92e1b29f0e7ea4aec89470c0da20cb17a28c6	@DISEASE$ @PHENOTYPICFEATURE$ (TBM) is one of the most severe forms of tuberculosis.	false
+e17fda8b9991b7ad29557132d5eda5cc25dc8be0	Tuberculosis @PHENOTYPICFEATURE$ (TBM) is one of the most severe forms of @DISEASE$.	false
+7db2874836d1f9fa9932018bf52b51f50b428c7f	This was a retrospective study of 26 patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+16a00cbad7423b0ade42c4c1ff9b3a8beccc8f33	@DISEASE$ @PHENOTYPICFEATURE$ is a rare yet serious infectious disease.	false
+37bf079a643f5adc403562e1930c52d502a18578	@DISEASE$ @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder in children.	false
+a56af5c2b03c4d51f46915f72713af5893f8afe0	Pathologic findings of the explanted liver showed @PHENOTYPICFEATURE$, @DISEASE$, which may have induced liver dysfunction with severe portal hypertension.	false
+e860b4606031cfe59d972db1e42f4a86ffd51922	Both patients showed bony anomalies of the extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+679cec43a3420ddf8f4665f155f455878fc3aff7	Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic syndrome or @PHENOTYPICFEATURE$-@DISEASE$, is a rare congenital disorder that segregates in an autosomal recessive pattern.	false
+627da634ceb95ea8e95919ccb2c569e3b56ec8de	We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, @DISEASE$ of fingers 2-3, accessory nipples, and @PHENOTYPICFEATURE$.	false
+0e92c18ac33377342052ddebb677ab707fed190e	Minor anomalies as clinodactylyl of the firth digits, cutaneous @DISEASE$ of toes, @PHENOTYPICFEATURE$, sacral dimple and cryptorchidism may be seen.	false
+056d4c682f8fe93a64f95f775aa257ddc2830d58	Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral @PHENOTYPICFEATURE$, deviated nasal septum, partial cutaneous @DISEASE$, and various skeletal abnormalities.	false
+13c0b904d2142dbbc621ac7ddb3a34f49bc88ab6	Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and?@PHENOTYPICFEATURE$-@DISEASE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+726ffb37ef961354f523d210e2c7574f143fa800	The patient reported here presented with craniosynostosis, @PHENOTYPICFEATURE$, brachydactyly and @DISEASE$ of toes.	false
+9e9cc8274a5c62c7c5b2811fb8ceaf3e469a017c	The patient had @PHENOTYPICFEATURE$, blindness, widely spaced nipples, bifid ureter, @DISEASE$ of the toes, and mental retardation.	false
+5934a53652561b9c3d5bc937f3ba673765183e48	Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, @PHENOTYPICFEATURE$, and partial cutaneous @DISEASE$ of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome.	false
+5fd4499f47024777f9d6eef304b2849afae94b66	Both have bilateral @PHENOTYPICFEATURE$, soft tissue syndactyly of the feet, bilateral partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and fifth toes on the right in the older sib only, thus differing from all previously reported cases of anophthalmos-@DISEASE$ syndrome.	false
+bb33fae1e3d6fbff2312784ae20b3393e584a9b6	We hope that this report of coinheritance @DISEASE$ and @PHENOTYPICFEATURE$ will initiate further investigations to disclose other possible variations that may enhance our knowledge on gene mutations of this intriguing syndrome.	false
+bc7f0f490eeb5339baf83acbc8945cfe8f9b4aa7	To our knowledge the present study constitutes the largest field survey on phantom limb pain carried out in Europe and corroborates the high prevalence and intensity of PLP, unusual @DISEASE$ and amputation-related @PHENOTYPICFEATURE$.	false
+c1cdf0a385b1257187bdff0d9827771904920e3d	The patients exhibited the typical clinical features of @DISEASE$ with type 1 oculocutaneous @PHENOTYPICFEATURE$ (OCA1).	false
+f68418c32861e1a1a4ee5085b537c9bc755a765c	The objective was to present the first report, which describes the concurrence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3b569c88fa3257ae158ae746314f869e766e3fb3	Patients with @DISEASE$ may exhibit mental retardation, intracranial @PHENOTYPICFEATURE$, nail dystrophies and a tendency to various infectious disorders, in addition to skin and oral findings.	false
+e058a6dda64e8d4d1e7d5df2754ce824084f26b2	Two geographically distant and apparently unrelated families were identified in which individuals were simultaneously affected by two rare recessive mendelian syndromes, @DISEASE$ and type 1 oculocutaneous @PHENOTYPICFEATURE$.	false
+1f1c6974ca91a0318316a000e87e6bea5856aa8b	A 40-year-old Latin American woman presented for evaluation with a 5-week history of redness, thickened skin, and itching of the knees, as well as persistent redness and @PHENOTYPICFEATURE$ of the palms and soles consistent with Papillon-Lef?vre syndrome (@DISEASE$).	false
+50e1fbb865dd81d86051e47170f9b45f3d2b2065	He had associated @PHENOTYPICFEATURE$ scaly lesions on the elbows, knees, and feet with periodontosis suggestive of @DISEASE$.	false
+26a40867be64dec7616526dfe6988b41e32b6ba1	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.	false
+ed4152ca274925516447a656dc3e72fcb65f70fc	@DISEASE$ (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.	false
+041b80d5aacc4d26aa4397374cffe537c2ce110f	Visceral @PHENOTYPICFEATURE$ in patients with hereditary haemorrhagic teleangiectasia (@DISEASE$) include teleangiectasis, arteriovenous fistula (AVF), and aneurysms.	false
+4b7c3ce187512bb46cd789c328f9ae3f35aa72e6	The possibility of intraocular lesions being a component of the clincal picture of @DISEASE$ or a sporadic @PHENOTYPICFEATURE$ is discussed.	false
+5b903f3f702ec625121c05ff6a08c86b4400556c	Cerebral @PHENOTYPICFEATURE$ in a murine model of @DISEASE$.	false
+8beae204c34da461493f131d3c7e26be0ecbe903	@PHENOTYPICFEATURE$ in the fingers of patients affected with @DISEASE$ (HHT) as assessed by color doppler sonography.	false
+212831083d17168563b5bd451e8802f579d698f8	@DISEASE$ is an hereditary disorder characterized by cutaneo-mucous telangiectasis and @PHENOTYPICFEATURE$ in several organs.	false
+f3938df607d3d54aed7f71c5fe2cb6c35c3c76a8	Hereditary haemorrhagic telangiectasia (@DISEASE$), or Rendu-Osler-Weber disease, is a rare autosomal dominant disorder characterised by mucocutaneous or visceral @PHENOTYPICFEATURE$ that may be widely distributed throughout the cardiovascular system.	false
+156aa0a66bfb5d49b1015d449717918537ddcc12	Hereditary haemorrhagic telangiectasia (HHT), or @DISEASE$, is a rare autosomal dominant disorder characterised by mucocutaneous or visceral @PHENOTYPICFEATURE$ that may be widely distributed throughout the cardiovascular system.	false
+fb92254c329cf22860208d174fafbdc70ad843e5	@DISEASE$ with @PHENOTYPICFEATURE$; case report and therapy with tropical thrombin.	false
+2f04b5ea43667d7c31ebcbe5eaecdaec03a5cf2e	Retinal @PHENOTYPICFEATURE$, posterior segment ischemia, and vitreous hemorrhage suggested a combination of retinal involvement of @DISEASE$ complicated by nontarget embolization.	false
+e7bb43d7e706b2e7b36e4df1e6bcfaa0eb92596a	@DISEASE$ is a rare autosomal dominant inherited disease associated with @PHENOTYPICFEATURE$, which may occur in any organ.	false
+9f22c447990552ed55233240e152aeb1b0647819	Portosystemic @PHENOTYPICFEATURE$ in a patient with Osler-Weber-Rendu disease is rare, but we experienced a case presenting with recurrent portosystemic encephalopathy in @DISEASE$.	false
+e1b90aa8533d9242a3921795a02a5d580c1c3030	Portosystemic @PHENOTYPICFEATURE$ in a patient with @DISEASE$ is rare, but we experienced a case presenting with recurrent portosystemic encephalopathy in Osler-Weber-Rendu disease.	false
+84400e03c9754c0a7e8b30645012611609346593	We report a retrospective hospital-based pediatric series of 30 children (23 boys and 7 girls) who presented neurologic manifestations of chikungunya such as encephalitis (n = 12), @PHENOTYPICFEATURE$ (n = 10), @DISEASE$ (n = 4), and acute encephalopathy (n = 4).	false
+edf36e8db0b17255e347c617599da200d5ada8a1	Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, @PHENOTYPICFEATURE$, vascular abnormalities of @DISEASE$ and peripheral nerve vessels.	false
+334de56d8a0076818b5987c62ed0da2f1f088011	These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, @PHENOTYPICFEATURE$ status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, @DISEASE$, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences.	false
+5ea72ef5d7ac94d212834caf498bb656d87309f1	The following epileptic syndromes were identified: epilepsy-absence attacks in 28 cases (6%), benign myoclonic infantile epilepsy in 4 cases, other idiopathic generalized epilepsies in 61 cases (13%), benign Rolandic epilepsy in 18 cases (3.9%), 2 cases of cryptogenic Ohtahara syndrome, 6 cases of cryptogenic West syndrome, 1 severe case of infantile @PHENOTYPICFEATURE$ epilepsy, 1 case of continuous wave epilepsy during slow eye movement sleep and 1 case of @DISEASE$.	false
+e4e974eabf9b11657d1610c87cce4643060c0644	The following epileptic syndromes were identified: epilepsy-absence attacks in 28 cases (6%), benign @PHENOTYPICFEATURE$ infantile epilepsy in 4 cases, other idiopathic generalized epilepsies in 61 cases (13%), benign Rolandic epilepsy in 18 cases (3.9%), 2 cases of cryptogenic Ohtahara syndrome, 6 cases of cryptogenic West syndrome, 1 severe case of infantile myoclonic epilepsy, 1 case of continuous wave epilepsy during slow eye movement sleep and 1 case of @DISEASE$.	false
+ba7cdfb9ac9278ee23ca706dfd3c25e4125c334d	West syndrome (9%), simple partial seizures (8.6%), benign rolandic epilepsy of childhood (8%), absence seizures (7%), generalized tonic-clonic seizures (6.6%), generalized tonic seizures (5%), myoclonic seizures (2.2%), benign occipital epilepsy of childhood (2%), mixed type seizures (1.8%), Lennox-Gastaut syndrome (1.5%), juvenile @PHENOTYPICFEATURE$ epilepsy (0.9%), atypical absence (0.6%), @DISEASE$, Ohtahara syndrome, myoclonic astatic epilepsy, electrical status epilepticus in sleep and startle epilepsy (0.2% each), and unclassified seizures (12%).	false
+656c09bea7d491b7f11a8869b5c2894c9dd7b157	The injection of @DISEASE$ did not provide long-term resistance, inasmuch as termination of treatment permitted resumption of tumor growth at the primary @PHENOTYPICFEATURE$ site.	false
+c40bf86d12e9e5620bea9f434b34dcc4485338b0	The injection of @DISEASE$ did not provide long-term resistance, inasmuch as termination of treatment permitted resumption of @PHENOTYPICFEATURE$ growth at the primary tumor site.	false
+5eeda7fd13adb58c8368e582d16c3d218294e72c	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile @PHENOTYPICFEATURE$ epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+960798a0c10437b02b1fe347122b3dff62f473c6	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic @PHENOTYPICFEATURE$, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+c09a9f602353c3122366d015bd198693d3fc3e0a	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive @PHENOTYPICFEATURE$ epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+4947a0bba88250224615dfc707854c91946c9a86	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex @PHENOTYPICFEATURE$ epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+b5946c5ac286dee4919f8c002605747509d39586	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign @PHENOTYPICFEATURE$ epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+48a34e307265d9324ebbed53ceec6cdeb4a38a46	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign @PHENOTYPICFEATURE$ epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+ac61d957767b2506d71f8a271501ba16cd1ed89a	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true @PHENOTYPICFEATURE$ epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+1e58ae676304651f21ce912b087a6aaf31966bc2	It is preferred the Fejerman classification, slightly modified that present the following five groups: 1. Myoclonus without encephalopathy and without epilepsy, which includes physiological myoclonus; 2. Encephalopathies with non epileptic myoclonus, which includes Kinsbourne syndrome and certain types of hyperekplexia which pose differential diagnosis problems with reflex myoclonic epilepsy; 3. Progressive encephalopathies with myoclonic seizures which includes typical and atypical progressive myoclonus epilepsies; 4. Epilepsies and epileptic encephalopathies with myoclonic seizures, which includes severe epilepsies which leads to mental retardation, as Otahara syndrome, West syndrome and Lennox-Gastaut syndrome, and other epilepsies which present sometimes myoclonic seizures, as @DISEASE$, 5. Comprises true myoclonic epilepsies, differentiating syndromes recognized as idiopathic, -benign myoclonic epilepsy of infancy, reflex form of benign myoclonic epilepsy in infancy, eyelid myoclonic with absences, perioral myoclonic with absences and juvenile myoclonic epilepsy-, cryptogenic-severe @PHENOTYPICFEATURE$ epilepsy of infancy, myoclonic-astatic epilepsy and epilepsy with myoclonic absences-, and symptomatic as the generalized myoclonus in children with static encephalopathies.	false
+6a0219a2138bfcbf55ab7ae6a8a23cf5bbc232d9	The present review discusses the issues related to several of these epilepsy syndromes in childhood, including those classified as generalized idiopathic epilepsies (e.g., childhood absence epilepsy, juvenile absence epilepsy, juvenile @PHENOTYPICFEATURE$ epilepsy), focal epilepsies (benign rolandic epilepsy, occipital epilepsy, temporal lobe epilepsy, frontal lobe epilepsy) and the "epileptic encephalopathies," including Dravet's Syndrome, West Syndrome, Lennox-Gastaut Syndrome, Myoclonic Astatic Epilepsy, and @DISEASE$.	false
+63f7df50510e357ad919d3a243b74cd76a9e6afa	The use of the method allowed for diagnosing epileptic syndromes, @DISEASE$, reflex epilepsy, photogenic epilepsy and infant @PHENOTYPICFEATURE$ epilepsy in 11 children.	false
+cdb3c4a330b40334c1fed033e9cdc050d72fb4b1	Diagnoses were achieved in 15 patients: electron transport chain abnormalities (n = 5), cortical dysplasia (n = 3), @PHENOTYPICFEATURE$ epilepsy (n = 1), leukodystrophy (n = 2), Pallister-Killian mosaic syndrome (n = 1), Rett syndrome (n = 1), @DISEASE$ (n = 1), and mitochondrial cardiomyopathy (n = 1).	false
+8b58766ff8c0430fc8dab032693a498d7bf7f7b2	Nonfunctional, non-ampullary @DISEASE$ (dNETs) are rare @PHENOTYPICFEATURE$, and specific treatment recommendations are less clear than for other NETs.	false
+16508a20767dde985ff4a0918fe7770ee362f7b0	@DISEASE$ (NETs) are rare @PHENOTYPICFEATURE$ with poorly defined management.	false
+11262b9f6a89c5e4aaaafee002a2b6be8bdeede7	@DISEASE$ are rare @PHENOTYPICFEATURE$ averaging 1.2-1.5 cm, and most are asymptomatic.	false
+e3c1ac64a4eb21a147a2e2d5d82c1b2cadd23554	@DISEASE$ (NETs) are rare @PHENOTYPICFEATURE$, consisting of five different types of tumors.	false
+50b3218274e61d856831c915279ecade232d0889	@DISEASE$ (NETs) are rare tumors, consisting of five different types of @PHENOTYPICFEATURE$.	false
+697fce0747f6a61c6beb2f2cc296f6f048a9270a	Gastrointestinal stromal tumors, pancreatic and @DISEASE$ are the most common @PHENOTYPICFEATURE$ in patients with neurofibromatosis.	false
+c331d6d2caa2d4416c58fc5b587cf449c0826410	@DISEASE$ (NETs) are rare @PHENOTYPICFEATURE$.	false
+0c2b01e6244d809492ed7f8b0a1785d952d96af5	The present report describes a rare case of a @PHENOTYPICFEATURE$ composed of early gastric cancer and a @DISEASE$ (NET).	false
+560b132a7bf0e0eea6b81878b797b6e9ccea9aad	@DISEASE$ (NET) are rare @PHENOTYPICFEATURE$.	false
+44e7a589b2bb5fbea68730b86466ff5378cd8e08	Pathologic grade and @PHENOTYPICFEATURE$ size are associated with recurrence-free survival in patients with @DISEASE$.	false
+ed535f160fed4a17231adc124c9bb97e10ca9a03	Case of a @PHENOTYPICFEATURE$ comprising gastric cancer and @DISEASE$.	false
+22e4194cbf7fd3743f1c5fdd4d4c056703421de5	Two cases of @DISEASE$ are described, one having a generalised variety along with mental retardation, nystagmus, unilateral breast atrophy and intermittent divergent aquint, and the other having the localised variety associated with mental retardation, ventricular septal defect, @PHENOTYPICFEATURE$, hypoplasia of first left metacarpal and extensive dental caries.	false
+cbcd97b7a9bba1ed980b4efa2409ac99fbb7d37d	Other clinical and laboratory findings often associated with @DISEASE$ included weight loss, @PHENOTYPICFEATURE$, pyrexia, thrombocytopenia, hemorrhages, hypergammaglobulinemia, and high activity of biliary epithelial enzymes.	false
+7f1775763e9c82e25f2bf6ad3ebfa93e1d922484	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with mucopolysaccharidosis type III, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+20268119d07257f2e8efec41924d753f239f6107	These results demonstrate that AAV-based therapy for hyperargininemia is effective and prevents development of @PHENOTYPICFEATURE$ and cognitive dysfunction in a mouse model of @DISEASE$; however, nitrogen challenging reveals that these mice remain impaired in the handling of waste nitrogen.	false
+5d46e25a4211702e58c8fa3bb88a37a5dff8770b	These results demonstrate that AAV-based therapy for @DISEASE$ is effective and prevents development of @PHENOTYPICFEATURE$ and cognitive dysfunction in a mouse model of hyperargininemia; however, nitrogen challenging reveals that these mice remain impaired in the handling of waste nitrogen.	false
+732106715c3e0b862d97fbe726c05f4c803477ef	@DISEASE$ is a rare bone disorder that may cause a variety of @PHENOTYPICFEATURE$; hydrocephalus has not been observed with this disorder, however.	false
+846078cc993dfea0c9547a4092e528f76242cd9a	@DISEASE$ is associated with neonatal @PHENOTYPICFEATURE$.	false
+47c17f05b2f6bbac2313b0b77dc9e67620107aeb	We report a 2 months old girl affected by @DISEASE$, genital abnormalities, @PHENOTYPICFEATURE$ and a pattern of minor anomalies.	false
+de1eba0742572a7b122741bed4a75f4aab33c2b1	Children with congenital @DISEASE$ or dysplasia often presented with @PHENOTYPICFEATURE$ due to hypertensive encephalopathy without obvious symptoms or signs of pre-existing renal disease.	false
+6eb28e8c26471f708f81a25184a287c65d271a54	In another patient presenting with @DISEASE$ and proximal ureteric stenosis combined with @PHENOTYPICFEATURE$, macrocephaly and ear anomalies, a duplication of 2.73?Mb was detected in 1q21.1.	false
+6c38932e5b92e706b9f392e83e9fda3bd2e1ac11	The common limb defects include oligodactyly, ectrodactyly, syndactyly or @PHENOTYPICFEATURE$ anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral @DISEASE$, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities.	false
+5bfb514e10c6aa66a6b26b15167e254309adae5a	The common limb defects include oligodactyly, ectrodactyly, @PHENOTYPICFEATURE$ or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral @DISEASE$, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities.	false
+b4814c0f92050784fbb263a135073865813ab4dd	[Arterial hypertension caused by segmental unilateral @DISEASE$ with @PHENOTYPICFEATURE$ and abdominal aorta hypoplasia].	false
+51f74e2e9ca7283c68bc57df2c760c9abbeca94e	Other clinical features include speech disorder, @PHENOTYPICFEATURE$, developmental delay, polyuria/polydipsia, ataxia, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, hepatic fibrosis, and @DISEASE$/dysplasia.	false
+8d25605bdd08bf68f487b518d7705842de96b9f5	Other clinical features include speech disorder, brachydactyly, developmental delay, polyuria/polydipsia, @PHENOTYPICFEATURE$, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, hepatic fibrosis, and @DISEASE$/dysplasia.	false
+ef8324c87689d40e44fea4b2fe5bbee566a62292	Here, we report two maternal cousins with an apparently X-linked phenotype of @PHENOTYPICFEATURE$ (MR), microphthalmia, choroid coloboma, microcephaly, @DISEASE$, and spastic paraplegia.	false
+4e7c706ad107dbfa7944f031dea7ce1dcbf7e67c	Cenani-Lenz @PHENOTYPICFEATURE$ with facial dysmorphism, hypothyroidism, and @DISEASE$: a case report.	false
+5ab91661adff7cfafdf5921e03be0127784cf316	deletion: long QT syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ca58ff857f7105a28afca48769282686e40a9849	The combination of @PHENOTYPICFEATURE$, obesity, postaxial polydactyly, and bilateral @DISEASE$ were compatible with the diagnosis Bardet-Biedl syndrome (BBS).	false
+3b137f2b9d3cf6be8b2218387ad8f2b5a389b4fc	These genetic diseases include mtDNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders, such as progressive external ophthalmoplegia (PEO), @PHENOTYPICFEATURE$-neuropathy, or @DISEASE$ (MNGIE).	false
+3a8528d2fca034419662b6900a0f24aa2079acce	The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS) such as Alpers or early infantile hepatocerebral syndromes, and mtDNA deletion disorders such as progressive external ophthalmoplegia, @PHENOTYPICFEATURE$-neuropathy, or @DISEASE$.	false
+f2b8dd066c429c8d64a03e6b9d76bc944d11d1e2	These genetic diseases include mitochondrial DNA depletion syndromes such as Alpers or early infantile hepatocerebral syndromes, and mitochondrial DNA deletion disorders, such as progressive external ophthalmoplegia, @PHENOTYPICFEATURE$-neuropathy, or @DISEASE$.	false
+ac4b61f3e221e5b45f228dd5c06effb11468c614	This review focuses on our current understanding of nuclear gene mutations that produce mtDNA alterations and cause mitochondrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), @PHENOTYPICFEATURE$-neuropathy, or @DISEASE$ (MNGIE).	false
+c8a5b769e354c46666670f5d1e961e7b95e33fdf	In recent years dermatologists have broadened the indications for phenytoin use to include @DISEASE$, linear @PHENOTYPICFEATURE$, and pachyonychia congenita.	false
+8a5f8945a61bd5abcae932823c42fb85f2739291	High levels of clotting factors, @DISEASE$, hyperhomocysteinemia, prolonged immobilization, increasing age, surgery, trauma, cancer, @PHENOTYPICFEATURE$, poor nutrition, pregnancy, oral contraceptives, and hormone replacement therapy comprise just some of the other risk factors.	false
+b93917a9c60c46ceb30b6657936b7c8acfef79ba	This is consistent with a recent study from our laboratory which demonstrated that the histology of the brain of an untreated male patient, who died with @DISEASE$ at the age of 29, was similar to control brain with the exception of changes directly related to visual @PHENOTYPICFEATURE$ and seizures experienced by the patient.	false
+50a3c5928932c47b187e48948e7cdd0ebd645c60	We here describe the detection of a de novo @PHENOTYPICFEATURE$ in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (@DISEASE$) patient.	false
+382361759cfaf9ce95c12440a923b650e655b2f4	We here describe the detection of a de novo @PHENOTYPICFEATURE$ in the phenylalanine hydroxylase gene in a Norwegian @DISEASE$ (PKU) patient.	false
+25cd257f85f2530eb7f9b3b5626df77334b6b0b5	@DISEASE$ @PHENOTYPICFEATURE$ V388M is frequent in the Iberian Peninsula.	false
+cae4e597c349be0fe88e0fe399d185670150b664	In three families, two phenylketonuria (@DISEASE$) mutations were found in cis, and in one family a de novo @PHENOTYPICFEATURE$ was observed.	false
+90b0f93ef8f59cb4dfc75549061e3fa0ce426c9d	In three families, two @DISEASE$ (PKU) mutations were found in cis, and in one family a de novo @PHENOTYPICFEATURE$ was observed.	false
+1810d0494beec61a435d164bbba0ffbd362c03ef	The patient showed @DISEASE$, @PHENOTYPICFEATURE$, and pathological electro-oculography results in both eyes, with high affectation of the relative electrogenesis of the photoreceptor-pigment epithelium complex.	false
+4568d5285842963bc6505150c17be9dc24a6b16c	It has been noted that autistic symptoms occur more frequently in children with mental retardation, @PHENOTYPICFEATURE$, congenital rubella, @DISEASE$, etc., and that there are very few cases of classical infantile autism in the general population.	false
+afc557548faea3fa44aed977ff3a2ea7508516d4	@DISEASE$ (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar @PHENOTYPICFEATURE$.	false
+d856b6418a7aa1bd850b69061d3cc1178fb337fa	While @PHENOTYPICFEATURE$ has been causally associated with various cancers, only a limited number of studies beheld the link with @DISEASE$ (HL).	false
+ad5e656cfacbc25967e2aad2aaba000ebfc32af2	The leading cause of death in patients with @DISEASE$ (FCMD) is @PHENOTYPICFEATURE$ or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD).	false
+36efaf967f88bf11188d5ee95782f1f847779642	The leading cause of death in patients with Fukuyama congenital muscular dystrophy (@DISEASE$) is @PHENOTYPICFEATURE$ or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD).	false
+a9fa964b7e5c4b37c707bcf3b721fb9509ed8dfd	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and @PHENOTYPICFEATURE$ areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+2d63c882d45ad1ca8eb95661913d573d142e9ae3	A case of Stickler syndrome (hereditary arthro-ophthalmo-dystrophy) with maxillo-@PHENOTYPICFEATURE$ and @DISEASE$ is reported.	false
+2fe1f1095e0934bb3c2e87e94af7b05c977f801b	This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual @DISEASE$, abdominal wall and diaphragmatic defect, Central nervous system abnormality with large head, and severe neurohypotrophic @PHENOTYPICFEATURE$.	false
+3aefad7498b4ca61dad005368064c85e43980a82	This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual @DISEASE$, abdominal wall and diaphragmatic defect, Central nervous system abnormality with @PHENOTYPICFEATURE$, and severe neurohypotrophic lower limb deformities.	false
+8b4770b69381db79419d1f91d1e019fb4851148e	At diagnosis, all PSP patients had oculomotor palsy, whereas 89% of @DISEASE$ patients had @PHENOTYPICFEATURE$; bradykinesia and falls were the most frequent common signs.	false
+a33512a464802dfbb3a6e804bfb09e9eab74e045	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+445f3f82b241653208995a1cdc89f062c2397f7c	Cardiac @PHENOTYPICFEATURE$ severity correlates with disabling symptoms thus a Cardiac Autonomic Nervous System Evaluation protocol (CANSEp) is useful to assess ANSd in PD and @DISEASE$ patients.	false
+8d14e1e76261c4134c3285c2ba95e044003e7b88	The clinical features resembled the @DISEASE$ (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and @PHENOTYPICFEATURE$.	false
+477b2037c58529d6f343b1d28802ed69d0101f73	We report a case of recurrent body cavity-based @DISEASE$ in a patient with advanced acquired immunodeficiency syndrome who presented with bilateral @PHENOTYPICFEATURE$, without evidence of an associated tumor mass.	false
+5a3925be9caf2da8fc95acd3198b5c6205c01f9b	One of them had @DISEASE$ and the other @PHENOTYPICFEATURE$, both radically operated.	false
+0217c2826cd3c8c727aacec20b26bc38aa580dff	Between 1986 and 2012, 47 children (mean age 5.9 ? 2.4 months; range, 1 day to 17 years) underwent either subtotal or total resection of cardiac tumors (@PHENOTYPICFEATURE$, 13; fibroma, 12; teratoma, 9; myxoma, 8; hemangioma, 2; rhabdomyosarcoma, 1; @DISEASE$, 1; lymphangioma, 1).	false
+6880e84404d6e3733af55ad840024b174298500c	Between 1986 and 2012, 47 children (mean age 5.9 ? 2.4 months; range, 1 day to 17 years) underwent either subtotal or total resection of cardiac tumors (rhabdomyoma, 13; @PHENOTYPICFEATURE$, 12; teratoma, 9; myxoma, 8; hemangioma, 2; rhabdomyosarcoma, 1; @DISEASE$, 1; lymphangioma, 1).	false
+51c44c7bc86be8ce498e2cb88567a939a94a24a0	We report a case of @DISEASE$ (NHL) in a 24-year-old man presented with difficulty in swallowing, hypersalivation, hoarseness, ptosis, facial paralysis, and facial @PHENOTYPICFEATURE$ associated with NL.	false
+6fe6ae6e5c3b1922bb5b2fd8dd59a7ba841a8190	A suspicion for @DISEASE$ should always be kept in mind in a patient presenting with pneumonia, bilateral @PHENOTYPICFEATURE$ and eosinophilia.	false
+03b1871a74579de16cc47bc0de8dab6598889c55	The incidence, histologic characteristics, clinical course, diagnostic and therapeutic problems in tumors of the stomach in children, with special reference to @DISEASE$ and @PHENOTYPICFEATURE$, are discussed.	false
+1f0d231db35207136571a2a7fef33d7a3784c4a9	We report a case of a 15-year-old girl with @DISEASE$ who developed @PHENOTYPICFEATURE$ during chemotherapy.	false
+7fdfe66a9320c8d43bc6438a399b4cb31f750154	An 82-year-old man with a low-grade malignant @DISEASE$ and an IgG3 lambda monoclonal gammopathy presented a recently acquired bleeding tendency, characterized by recurrent epistaxis, easy bruising, and episodes of @PHENOTYPICFEATURE$, requiring packed red blood cell transfusions.	false
+8741198a123ea724ff605ee332d247f047716e2d	We present a case of bilateral @PHENOTYPICFEATURE$ following unilateral drainage of a pleural effusion in a young child with @DISEASE$.	false
+42d968fbc3d831d8431769dc70b0d46ac4e1c71f	We report on a patient with high-grade @DISEASE$ who developed severe metabolic acidosis, @PHENOTYPICFEATURE$, hyperphosphatemia, and hypocalcemia within 2 days of starting corticosteroid therapy.	false
+a1ff9763f596f43c325bd92fa8745bf890a5f907	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+2b5b50b9b5652735ed43149b89ea50baf884d01c	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor disability, developmental regression, seizures, @PHENOTYPICFEATURE$, deafness, and death.	false
+5540051d4fca176bb054572e07ed4dea553f3eeb	@DISEASE$ incorporated with dietary restriction and exercise treatment exhibit effects in alleviating high-fat diet-induced obesity, @PHENOTYPICFEATURE$, hyperlipidemia, hypertension, hepatic injury and insulin resistance, which are possibly due to the down-regulation of TNF-?, leptin and PKB.	false
+931057dd40f82840358d4c53ccd9ebd7557e4104	@DISEASE$ incorporated with dietary restriction and exercise treatment exhibit effects in alleviating high-fat diet-induced obesity, hyperglycemia, @PHENOTYPICFEATURE$, hypertension, hepatic injury and insulin resistance, which are possibly due to the down-regulation of TNF-?, leptin and PKB.	false
+e81b639b10cb5f4508f664849305dfcd6adb91af	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+314615da7c1856e329c3b10878af4cd2593a0053	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+157aa26852ff54fc65bbb11499af9f6ba1bc49fe	The patient presented frequent episodes of @PHENOTYPICFEATURE$, which is evocative of @DISEASE$.	false
+be027f3b1243d6fab11b14e9ab954fdd340afc73	We report an infant who had clinical features consistent with @DISEASE$ type II, with unusual features of microcephaly, @PHENOTYPICFEATURE$, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.	false
+b1b3711cf50520dc8a240af2fb4c4d1668a8fe62	We present an individual who had different nail dystrophy, epidermal cysts, @PHENOTYPICFEATURE$, blepharitis, complete loss of teeth, and negative keratin gene mutations for @DISEASE$ and developed squamous cell cancer on the oral leukokeratosis lesions.	false
+63546520a8509cda3e1c43bc4f386b4a2ed537b8	Four infants had congenital anomalies: @DISEASE$ (two [twins]), structural heart defect (one), and @PHENOTYPICFEATURE$ (one).	false
+d10e1e76c06d925e08fce6e85ff76d8ee9254b7a	Children at the most severe end of this spectrum and displaying the complete phenotype of characteristic facial anomalies, growth retardation and developmental @PHENOTYPICFEATURE$ are defined as having @DISEASE$ (FAS).	false
+7284dc1536827dbf1bbd72c3e39ff053b34866e8	Therefore, we assessed the generality of the @DISEASE$ by replicating the intervention in children with @PHENOTYPICFEATURE$ and FS.	false
+9bddd53688c030caba816261bc40735bb8327a5b	Mocha (mh), a mouse model for @DISEASE$ (HPS), is characterized by platelet storage pool deficiency, pigment dilution, and deafness as well as @PHENOTYPICFEATURE$.	false
+e349cb426b2524e9f0e2f0531e5fbef9376a9c29	Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (@DISEASE$), is characterized by platelet storage pool deficiency, pigment dilution, and deafness as well as @PHENOTYPICFEATURE$.	false
+2585d1e9971c9e13220d48298078c078ce1ff8dc	Primary @DISEASE$ @PHENOTYPICFEATURE$ with xanthomas.	false
+3d271027dc0f32b34f8c593454bf0225b55dc07d	Concomitantly the patient had long-standing Parkinson's disease with typical @DISEASE$ @PHENOTYPICFEATURE$ and hyperhidrosis.	false
+93a479ec2dcaf28baedeb809b66b9acfd214f73a	She had peculiar features such as short stature, @PHENOTYPICFEATURE$, brachydactyly, and dysmorphic @DISEASE$ characters, which prompted us to evaluate her further.	false
+19a032d9d02eebe98597d03f22ae4fe0b7022dcf	We report on a consanguineous Lebanese family in which a sister and brother had developmental delay, dysmorphic @DISEASE$ appearance, narrow chest, prominent abdomen, and @PHENOTYPICFEATURE$.	false
+c43b7b190b936a36548252748f592ffd6e8f8320	The hallmarks of this affection, also called Blomstrand chondrodysplasia, are @PHENOTYPICFEATURE$, polyhydramnios, hydrops fetalis, @DISEASE$ anomalies, increased bone density, and a remarkable advance in skeletal maturation.	false
+a5817b9c86cb2b795fb3a92d67943df8394eb40b	Systemic vasculitis with prolonged pyrexia, recurrent @DISEASE$ @PHENOTYPICFEATURE$, skin nodules, pleural effusions and venous thrombosis: an unusual presentation of an uncommon disease.	false
+a1f454a6e8377a6a4d22597a7321f59739b21eaa	Systemic vasculitis with prolonged pyrexia, recurrent @DISEASE$ urticaria, @PHENOTYPICFEATURE$, pleural effusions and venous thrombosis: an unusual presentation of an uncommon disease.	false
+6eac5797d7a455993dfc0f7cb98522604a3ebaa0	These patients have the main clinical characteristics of IMAGe association: IUGR, @DISEASE$ dysmorphy (frontal bossing, broad nasal bridge, low-set ears), @PHENOTYPICFEATURE$ due to metaphyseal dysplasia, and adrenal insufficiency.	false
+7c4a24b57d345feb80a3e488321c716fad599d33	 are associated with dysmorphic skeletal disorders which manifest @PHENOTYPICFEATURE$ and @DISEASE$ anomalies.	false
+67935d4dacbd618754ce9d2e5a1d4faddd94f524	Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct @DISEASE$ anomalies, @PHENOTYPICFEATURE$, and intrauterine growth retardation.	false
+de7cb26414244d4835609747602f82799b007107	Early recognition of this disorder is possible from the abnormal body proportions with @PHENOTYPICFEATURE$ and lumbar lordosis without @DISEASE$ stigmata of achondroplasia.	false
+66c26b08a195b9730c8f757cd1b375efe2b54e9e	The three most frequent MRI anomalies confirmed at histopathological and/or neonatal examinations were arhinencephaly in 100% (26 of 26), dysplasia of the semicircular canals agenesis (@DISEASE$) in 100% (24 of 24), and @PHENOTYPICFEATURE$ in 100% (22 of 22).	false
+b8c356749f45f2dd74e88cbcfc457fbdcced07fa	The angiographical separation of the PCA and @DISEASE$ was very useful for the preoperative diagnosis of oculomotor nerve @PHENOTYPICFEATURE$.	false
+fea488e5d6e842be8b7af5361f9207b69c572f25	This exploratory study suggests that @DISEASE$ infants may be at greater risk of @PHENOTYPICFEATURE$ than previously considered, and may provide the impetus for further research into the very early precursors of cognitive impairment.	false
+c9c8ba33949093b2cb5170b669bd754c006cabcf	However, @PHENOTYPICFEATURE$ in SCAs are more likely related to extracerebellar pathology, and imaging and neuropathological data indeed show involvement of other parts of the motor system (substantia nigra, striatum, pallidum, motor cortex) in some @DISEASE$ subtypes.	false
+06dd8496fddb3f5af8d36667b301615249b2b956	The type of @PHENOTYPICFEATURE$ may provide clinical clue to the type of @DISEASE$.	false
+96c1f2956d2bc7010044272907275385f2b941cd	Silent cerebral infarction (SCI) is the most common @PHENOTYPICFEATURE$ among children with sickle cell anaemia (@DISEASE$).	false
+e6c63f5c3f6b9d33c0d0fa8471c8e2eee031d302	Two risk factors for CKD, i.e., nocturnal @PHENOTYPICFEATURE$ and hyperuricemia, were associated with lower eGFR in older children and adolescent patients with @DISEASE$.	false
+c8c77f988cbbd711ad00bbe41141bf084a822d8c	This study aimed to investigate whether infants with sickle cell anaemia (@DISEASE$) are at risk of @PHENOTYPICFEATURE$, and whether any delay is associated with SCA pathology.	false
+33f75d2bd1665c86d12467985ab90286a1aa1d71	This study aimed to investigate whether infants with sickle cell anaemia (SCA) are at risk of @PHENOTYPICFEATURE$, and whether any delay is associated with @DISEASE$ pathology.	false
+7d34d97a9a3eb02b458628552ff3b83dfd86cbe5	In fact, @PHENOTYPICFEATURE$ are frequent in many of the various @DISEASE$ subtypes, and they can be the presenting, dominant, or even isolated disease feature.	false
+4de1cf635ddf1f2fdd5636707b01ba628bafde64	Bowel or bladder dysfunction, @PHENOTYPICFEATURE$, and sensory disturbances symptoms were more common in patients with @DISEASE$.	false
+eace935a6692c56e18e814d94b4342141f6ad4ef	Seventeen patients presented with seizures, @PHENOTYPICFEATURE$, and confusion, compatible with limbic encephalitis (LE), one patient presented with ataxia, one patient presented with status epilepticus, and one patient presented with @DISEASE$ (OMS).	false
+50c9615030196b12d58596211f6085c39fe3d472	Seventeen patients presented with seizures, @PHENOTYPICFEATURE$, and confusion, compatible with limbic encephalitis (LE), one patient presented with ataxia, one patient presented with status epilepticus, and one patient presented with opsoclonus-myoclonus syndrome (@DISEASE$).	false
+d798a45b4c6ff8e64dc9ebc23dda88359d72a2d5	Association of neuromyotonia with @PHENOTYPICFEATURE$, myasthenia gravis and @DISEASE$: a case report.	false
+8892615a2b7116f6379c1ccdce9326dfc9e952cb	Examples include anti-interferon (IFN)-? autoantibodies and disseminated nontuberculous mycobacteria; anti-granulocyte macrophage colony-stimulating factor autoantibodies and cryptococcal meningitis; anti-interleukin (IL)-6 autoantibodies and staphylococcal @PHENOTYPICFEATURE$; and anti-IL-17A, anti-IL-17F, or anti-IL-22 autoantibodies and mucocutaneous candidiasis in the setting of either APECED (autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy syndrome) or @DISEASE$.	false
+96ac4c20e421d6b242e8578647c1b505a9ea3627	We report a case of renal transplant @PHENOTYPICFEATURE$ caused by a cyclosporine-associated B cell @DISEASE$.	false
+2f1bafc42c1c13a4544006cecc6248faae197970	Low-grade monoclonal Epstein-Barr virus-associated @DISEASE$ of the brain presenting as human immunodeficiency virus-associated @PHENOTYPICFEATURE$ in a child with acquired immunodeficiency syndrome.	false
+e3b0382c20cac0e4c567dac46a05069cb0f359f4	These neurologic symptoms include neurotoxicity of immunosuppressive agents, @PHENOTYPICFEATURE$, encephalopathy, cerebrovascular events, opportunistic infections, posttransplant @DISEASE$, and central pontine myelinosis.	false
+edc4f78042ab5d9667d007ed9b15b4991ef14a0b	These neurologic symptoms include neurotoxicity of immunosuppressive agents, seizures, @PHENOTYPICFEATURE$, cerebrovascular events, opportunistic infections, posttransplant @DISEASE$, and central pontine myelinosis.	false
+9509d963b13ae369387c78affc4e23ed4706c218	@PHENOTYPICFEATURE$ tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease xanthoma in familial dysbetalipoproteinemia, plane xanthoma in persons with an underlying @DISEASE$ (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia.	false
+387cd47a257f0c9b8d82322ba8b9312ddda27873	Xanthoma tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease @PHENOTYPICFEATURE$ in familial dysbetalipoproteinemia, plane xanthoma in persons with an underlying @DISEASE$ (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia.	false
+b0eefde02a1ddfe4439228f7e75e15342ec3d9c9	The premise that chronic antigenic stimulation may be involved in @DISEASE$ was considered in a patient with angioimmunoblastic lymphadenopathy who had received diphenylhydantoin (DPH) for @PHENOTYPICFEATURE$.	false
+83328298219a6fd4c544e4c1f6ecf94ee7c123b0	Renal failure is known to occur in @DISEASE$ because of @PHENOTYPICFEATURE$ or parenchymal infiltration by disease.	false
+e15b2ca49c9200dcc7d1349c0de3121abbd4a3cd	The AS-IL-3 transgenic mice develop either a progressive neurologic dysfunction, which includes @PHENOTYPICFEATURE$, bradykinesia, and paralysis, or a @DISEASE$.	false
+deecd4598bc76cd4e33838d4efd841fa2b45e9d6	@DISEASE$ (AFVD) is a relatively common macular degeneration which might lead to substantial @PHENOTYPICFEATURE$.	false
+d383483c697aed449ee9c8165aeff071f9cf7d9d	The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and @DISEASE$, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrophy, @PHENOTYPICFEATURE$, posterior staphyloma) syndrome, and autosomal recessive bestrophinopathy.	false
+d3f68979dd3c07437dcf39dd78b4e42cc107be05	A patient with severe @PHENOTYPICFEATURE$ after cerebral @DISEASE$ formed heterotopic new bone at several sites.	false
+b7fd82ba08fef59da0ece8e669671f394800642a	@DISEASE$ (63%), nephrocalcinosis (42%), and @PHENOTYPICFEATURE$ (14%) were also common.	false
+81bfa3c85bfd3195855f82a05591f96cd9b1b958	For animals kept captive long-term or as pets, veterinarians must understand proper nutrition and nutritional disorders, such as secondary nutritional hyperparathyroidism, @PHENOTYPICFEATURE$, and @DISEASE$, to properly treat this species.	false
+81ce311c658c28e9937fa409bff9d4572aebe40a	The health of the animals was generally good but @DISEASE$, @PHENOTYPICFEATURE$ and minor injuries were common.	false
+cd1319cfa6b3c562925353494eb83922a1f4c345	Oculo-facio-cardio-@DISEASE$ (OFCD) is an uncommon multiple congenital anomaly syndrome that is characterized by congenital cataracts, multiple minor facial dysmorphic features, @PHENOTYPICFEATURE$, and dental anomalies including canine radiculomegaly and oligodontia.	false
+f51b97a7a4ca8eee8fadc3632fb6ec72cf08f9da	After adjusting for age, sex, fasting plasma glucose level, smoking, and exercise, @PHENOTYPICFEATURE$ was associated with sum of @DISEASE$ (??=?0.239, p?=?.013), severe periodontitis (OR=4.52;	false
+bd0f502669313f13cb64811d760875ea46828efe	The Fluoride Hypothesis for @PHENOTYPICFEATURE$ proposes that we can make environmental changes that when made, will reduce the epidemic of obesity, in much the same way as fluoride reduced the incidence of @DISEASE$.	false
+ed5642456001a00904de299733b29f8af1112347	The Fluoride Hypothesis for obesity proposes that we can make environmental changes that when made, will reduce the epidemic of @PHENOTYPICFEATURE$, in much the same way as fluoride reduced the incidence of @DISEASE$.	false
+b9f48c6512aa37f03029da0fe87d51963d01b4ef	Food advertisements can divert, for a short time, children's preference over healthy food choices, and could lead to changes in their eating habits, which may put them at higher risk of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3997e042f753e2d6a971d05c06345a140e551d2a	Oculo-facio-cardio-@DISEASE$ is a rare X-linked disorder, lethal in males, that comprises microphthalmia, congenital cataracts, @PHENOTYPICFEATURE$, canine radiculomegaly, and digital anomalies.	false
+e368e3ec6c1e756c3939ac109237c05e45fc2c50	Slow lorises are known to suffer from many health ailments in captivity such as @DISEASE$, @PHENOTYPICFEATURE$, wasting and kidney issues all of which have been linked to diet.	false
+511c2cc3cb2f9104dc4c5210728b6a25372d8fb9	After controlling for common risk factors, the authors found that arthritis, cardiovascular disease, diabetes, emphysema, hepatitis C virus, @PHENOTYPICFEATURE$ and stroke still were associated with @DISEASE$.	false
+987d654d98a1e5c89f7742fe55e8026df5a063f4	In a mouse model of @DISEASE$ deficiency, "glaucoma-like" @PHENOTYPICFEATURE$ were observed as well as developmental defects in the eye.	false
+484e9d65d1a10ff086d04a78dca52bd90bd19967	In a mouse model of @DISEASE$ deficiency, "@PHENOTYPICFEATURE$-like" optic nerve abnormalities were observed as well as developmental defects in the eye.	false
+46301128c99dc535b300f5e526485b10a815d224	Hereditary @DISEASE$ (HNA) is an autosomal dominant, recurrent focal neuropathy characterized by episodes of @PHENOTYPICFEATURE$ brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances.	false
+eb2ebad19fcc5bcb1326c2a0484ae5a35ce25674	@DISEASE$ syndrome presents with lumbosacral hypogenesis, anomalies of the lower gastrointestinal tract, genitourinary system, and @PHENOTYPICFEATURE$.	false
+70f0172133da5a3f38b877ff9628cbbfddc471d5	Dandy-Walker malformation and @PHENOTYPICFEATURE$: a possible expression of @DISEASE$.	false
+b76a2be189cd7094f664e91268e674b85f910b56	@DISEASE$ consists of hydrocephalus, @PHENOTYPICFEATURE$, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality.	false
+428fa2460adcf545da2b00fc7f595009d57318be	Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with @PHENOTYPICFEATURE$ syndromes, and @DISEASE$.	false
+91d56f3726ccc5d65bafc41dfa0dbbe2d13afe6e	This observation suggests the existence of oligosymptomic @DISEASE$, and suggests that Dandy-Walker malformation with @PHENOTYPICFEATURE$ may be a manifestation of the hydrolethalus syndrome.	false
+d22d78f8c3db75ac2631b09f248bdcc10bf21a7c	This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with @PHENOTYPICFEATURE$ may be a manifestation of the @DISEASE$.	false
+289b8595804c54d695b625e5170a9ef183b99598	@DISEASE$ is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, @PHENOTYPICFEATURE$, and several other abnormalities, mostly in the midline structures.	false
+b31a52d41d6114657816115aefb58ad92f986ac1	It is proposed that cases of @DISEASE$ with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-@PHENOTYPICFEATURE$ syndromes.	false
+ae89e217dd7dd3ad5548d8f88df99a521fe94c9e	Holoprosencephaly and @PHENOTYPICFEATURE$: a possible expression of the @DISEASE$.	false
+751c60ad2cc58e4dbd72c75ba60663901b09b13e	@DISEASE$ may comprise mainly hydrocephalus, @PHENOTYPICFEATURE$, micrognathia, congenital cardiac and respiratory anomalies and uniform lethality.	false
+a68420c9606b5f04ba6374b65408ad2020fcad19	@DISEASE$ is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, micrognathia, and @PHENOTYPICFEATURE$.	false
+8c904fc75733a6f63a3f37ae12fa963f1fc694c8	Two brothers with severe CNS abnormalities, cleft lip/palate, @PHENOTYPICFEATURE$, and lung hypoplasia are reported as examples of the @DISEASE$, an autosomal recessive disorder.	false
+576f5546e5c878d7a912fa28dd6063cc305d6c8f	[Spontaneous @PHENOTYPICFEATURE$ and the @DISEASE$].	false
+4b87bb0fa51880000888bdf2cc5ad54d98b8adb0	Three patients presented with dysphagia and @PHENOTYPICFEATURE$ and were diagnosed as having @DISEASE$.	false
+dffeb8395d077d539b5355f260f2f08762c279db	@DISEASE$ associated with chronic blood loss @PHENOTYPICFEATURE$ and large diaphragmatic hernia.	false
+a4493ea9003479956fba9f0b0dcd1e2e4dcf645d	This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar @PHENOTYPICFEATURE$ (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant @DISEASE$ (CTRP5).	false
+8bfcd2a0951945dcfed03d45f26fab8e92a149a0	Fraser syndrome is a rare genetic disorder characterized by cryptophthalmos, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a2021dd342b366365fb84732e4d8b0fbeaa0e95c	Unilateral cryptophthalmos (with @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies).	false
+e57d98a98db38f9f0ac838453d3ff30e35e0d0df	Association of severe @DISEASE$ and Dandy-Walker syndrome with @PHENOTYPICFEATURE$.	false
+bdd2bcd76c9a283cb163d9ff3929a45dc2836f6a	A severe form of @DISEASE$ associated with Dandy-Walker syndrome and @PHENOTYPICFEATURE$ is reported in a full-term boy born to consanguineous parents.	false
+2a143d8350b2fdd945c898e926d10e96da84c757	(SAD) and @PHENOTYPICFEATURE$ and the risk factors for @DISEASE$ in obese female patients.	false
+f14219eb25b77f21e5288cef923b09b723b6d5f5	(@DISEASE$) and @PHENOTYPICFEATURE$ and the risk factors for SAD in obese female patients.	false
+107d2b4d91012aa8ff225f7b20e06d96ef534ee8	Although in @DISEASE$, the spring-birth/7R+ group had markedly elevated maximal BMIs and high rates of @PHENOTYPICFEATURE$, in this BN sample, the fall-birth/7R+ group exhibited the highest BMI values (N=17: mean maximal BMI=28.2	false
+46fa995923dc076c346885d8e7c4c4c0715ee260	This is the first study to document the association of @DISEASE$ with measures of @PHENOTYPICFEATURE$ among Arab children and adolescents.	false
+03dc9487bea35c4c34b178f387f7e958274cf0ea	 The present study shows that many factors are related to @PHENOTYPICFEATURE$ and @DISEASE$ in obese female patients.	false
+8d04cf9ccd8aec3e79562e0035f5fdf31f5e1c0e	@DISEASE$ (SADDAN) is an extremely rare severe skeletal dysplasia characterized by significant developmental delay, brain structural @PHENOTYPICFEATURE$ loss, and acanthosis nigricans.	false
+ed81cc9402ca3a554ad3897999a0de2aaea49bcf	The present study suggests that chronic @DISEASE$ causes the enhanced AP increase during PS concomitantly with the persistent hypertension and @PHENOTYPICFEATURE$ across sleep-wake states.	false
+fd182d211e952ddd5bd4c2e28be039228df1af1c	Anthropometric measures, including the sagittal abdominal diameter (@DISEASE$), have emerged as surrogate markers of visceral @PHENOTYPICFEATURE$.	false
+7d991d1b0cc10a6781f1f0c58a22801e323c5654	Obesity, particularly childhood obesity is common in the Middle East, but no studies have examined the relationship of sagittal abdominal diameter (@DISEASE$) or abdominal height to conventional markers of @PHENOTYPICFEATURE$ in this region.	false
+f4c5ca86e2ab6dd966a7e175adb125f2d8bb6a58	Obesity, particularly childhood @PHENOTYPICFEATURE$ is common in the Middle East, but no studies have examined the relationship of sagittal abdominal diameter (@DISEASE$) or abdominal height to conventional markers of obesity in this region.	false
+c2855c7a6aa7c6a018857603a55e218884c9cd08	The DSM 5 modified the medical exclusion criterion from DSM-IV, which now allows for a diagnosis of social anxiety disorder (@DISEASE$) to be given if the fears are related only to the medical condition (e.g., @PHENOTYPICFEATURE$) yet cause significant impairment or distress.	false
+25bd3652c15cc5aa86f3aae86600a3f65f201054	These data may reflect a novel gene-environment interaction, during early brain development, which establishes an increased risk for @PHENOTYPICFEATURE$ in women with @DISEASE$.	false
+5d53665d676672955c13960395a847e464e11419	To report a case of bilateral massive vulvar @PHENOTYPICFEATURE$ following lower abdominal paracentesis in a patient with @DISEASE$.	false
+dfde94b4e1e3ab87bd3ead8c4d49bc28007a702a	@DISEASE$ is a serious complication of ovulation induction and has a diverse clinical spectrum from @PHENOTYPICFEATURE$ to thromboembolism.	false
+b1ea17c6e01a5a41834c143490c9b21ad9364545	Massive vulvar @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8ab11237abae3a244320e4aac89c8ef3c224fb63	Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure @PHENOTYPICFEATURE$, or mixed edema?	false
+3cee37f89ef61725c83da11955774f9c58d20587	Pulmonary edema complicating @DISEASE$: low-pressure @PHENOTYPICFEATURE$, high-pressure edema, or mixed edema?	false
+96bdc5c6ae0187003fd8947fc330010d462edf9d	Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure edema, or mixed @PHENOTYPICFEATURE$?	false
+359a97184d74ec75f7b392f8aea37681923f3f7f	RE: Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure edema, or mixed @PHENOTYPICFEATURE$?	false
+17a8fed6a26297e88a240fa4ed210ed54ca712da	RE: Pulmonary edema complicating @DISEASE$: low-pressure edema, high-pressure @PHENOTYPICFEATURE$, or mixed edema?	false
+b2099e0c3439ea745d68dc2984ef61f83d0cd5b1	RE: Pulmonary edema complicating @DISEASE$: low-pressure @PHENOTYPICFEATURE$, high-pressure edema, or mixed edema?	false
+1642dbbf40bbf4122c1950731b6841926795f9fe	With a critical role in the maintenence of fluid homeostasis, the ovarian lymphatic vasculature is important for normal ovarian function and has been linked to syndromes involving ovarian fluid imbalance, including @DISEASE$ and massive ovarian @PHENOTYPICFEATURE$.	false
+19c657c1897fd6c22b80715b560d6268408f0138	Massive Vulvar @PHENOTYPICFEATURE$ in @DISEASE$.	false
+772193037a9df39fffd4056da3b6a53d0485fcb7	Unilateral vulvar @PHENOTYPICFEATURE$ associated with paracentesis in patients with severe @DISEASE$.	false
+b6455eacc32579720f611f7d30457c2962c93802	Postparacentesis bilateral massive vulvar @PHENOTYPICFEATURE$ in a patient with severe @DISEASE$.	false
+cb21d4fe4743d3a253a8b6a8e425e02abb0f3fba	Bilateral vulvar @PHENOTYPICFEATURE$ associated with severe @DISEASE$ is described for the first time.	false
+67f98984f65f9fd2bd1987343a1f313e5cf6e179	@DISEASE$ is a rare autosomal recessive metabolic disease presenting bilateral @PHENOTYPICFEATURE$ and a cherry red spot in the macula.	false
+cadd3e04301335368ac6051be1805e90d89ff965	Clinical correlates of depression in people with GTS appear to be: tic severity and duration, the presence of echophenomena and coprophenomena, premonitory sensations, @PHENOTYPICFEATURE$, obsessive-compulsive behaviors/OCD, self-injurious behaviors, aggression, @DISEASE$ (CD) in childhood, and, possibly, ADHD.	false
+f3c25b1fde022eddc2885e09d5885f2fcc1fba97	@PHENOTYPICFEATURE$ (ADHD) is the most frequently diagnosed behavioral disorder in children with a high frequency of co-morbid conditions like @DISEASE$ (CD) and oppositional defiant disorder (ODD).	false
+702938ef0d4a61c51f7f99c4adab7d1a42072912	The patient complained of @PHENOTYPICFEATURE$, abdominal distension and nausea diagnosed as moderate ovarian @DISEASE$-stimulation syndrome (OHSS) with early pregnancy and was treated accordingly.	false
+18e5f3985e552e7bbd63de22b123feee1ed13129	The hyperimmunoglobulinaemia D and periodic fever (@DISEASE$-IgD) syndrome is typified by recurrent unpredictable febrile attacks with @PHENOTYPICFEATURE$, joint involvement (arthralgias/arthritis), headache, skin lesions and a polyclonal elevation of serum IgD (> 100 U mL-1).	false
+39fb89be28f8a278c9cd71231f5361cfb75a0c79	The clinical course of untreated Whipple's disease can include three stages: (1) a non-specific prodromal stage which includes migratory polyarthralgias; (2) a classic abdominal manifestation which involves weight loss, weakness, chronic diarrhea, and @PHENOTYPICFEATURE$; and (3) a generalized stage characterized by steatorhea, cachexia, lymphadenopathy, @DISEASE$-pigmentation, and cardiovascular, pulmonary, and neurological dysfunction.	false
+54c87579dabba61588c1497532b817a61b33940a	@DISEASE$-IgM1 syndrome with interstitial @PHENOTYPICFEATURE$ and diarrhea caused by coxsackievirus B4 in a 3-month-old infant.	false
+ef6b25094ee9efffb162b0a6b5b936b15c00eb4e	Hyperimmunoglobulin E (@DISEASE$-IgE) syndrome is a rare immunodeficiency characterised by recurrent skin and respiratory tract infections, skeletal and @PHENOTYPICFEATURE$, chronic eczema, and elevated serum IgE.	false
+c48cf8d24498403d3b1c43fabea021f5466ad363	@PHENOTYPICFEATURE$ and bronchial @DISEASE$-responsiveness (BHR), an asthma-related phenotype, result from many genetic (G) and environmental (E) factors.	false
+d5e8beb45776c1b23ddaf2d39d34c66e9b32f6ae	The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or @PHENOTYPICFEATURE$; (9) avoidance of scoliosis; (10) @DISEASE$-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration.	false
+26d4ed7d78421226c11c2ff66639ea2369c8fdca	Interstitial @PHENOTYPICFEATURE$ and diarrhea caused by coxsackievirus B4 may be a complication of @DISEASE$-IgM1 syndrome.	false
+af750ba727389ddeffa79a6338c20fc83fc0d61f	Although an effective treatment for @DISEASE$-prolactinaemia, initiation of bromocriptine therapy may be associated with significant acute side-effects in some patients, particularly nausea, @PHENOTYPICFEATURE$ and postural hypotension.	false
+de1c9c94008355242ae2caf28a7f53928cc51404	All 5 patients presented with severe symptoms including axial hypotonia, dystonia, and @PHENOTYPICFEATURE$, associated with @DISEASE$-reflexia (4 patients), spasticity (4 patients), bulbar dysfunction (4 patients), and oculogyric crisis (2 patients) with diurnal fluctuation and sleep benefit.	false
+90096468d285580f8d05014867eb1e111bc9bf78	Male patient admitted due to an unexplained fever and @PHENOTYPICFEATURE$; it was diagnosed GP by a history of @DISEASE$, fixed pulmonary nodules and chronic sinusitis of four years of evolution; however, the fever persisted despite treatment and in the absence of infection.	false
+942e087b49804a4b32fcd5595e4c5935cef19338	Activated AMPK was detected in @PHENOTYPICFEATURE$, which occur in mice with kidney-targeted deletion of Fh1 and in kidney cancers of @DISEASE$ patients.	false
+e7b31f07494f3b82803c34762e475d955d3025ba	Robust detection of 2SC was observed in Fh1 (murine FH)-deficient @PHENOTYPICFEATURE$ and in a retrospective series of @DISEASE$ tumours (n = 16) with established FH mutations.	false
+ef3db2d1e031bddf8c6068cf08374f2aacb50fb1	Four patients with @DISEASE$, four patients with congenital @PHENOTYPICFEATURE$, and one patient with myasthenia gravis were treated with oral 4-aminopyridine for periods of up to 10 months, doses varying from 40 to 200 mg per day.	false
+e3d859dc2b8d41e669dab111d2d5042a6ac5b06b	We report two siblings with @DISEASE$ and end-stage renal disease who developed @PHENOTYPICFEATURE$ and seizures from muromonab-CD3 following renal transplant.	false
+c270eda4941548d6282f318979774ac857ac706a	Allergic reaction to chlorambucil in @DISEASE$ presenting with @PHENOTYPICFEATURE$ and lymphadenopathy.	false
+af3b735e30f346061069cd558298561c1c068aee	We report the case of a 62-year-old man with @DISEASE$ who presented with neutropenic @PHENOTYPICFEATURE$ and sepsis.	false
+b7d28569ea629d46c95d18158f6bc2e26b6a908b	A 65-year-old patient with @DISEASE$ presented with @PHENOTYPICFEATURE$, headache, and a pontocerebellar syndrome.	false
+138ab160538a49d2b48b032b6860c9b0eafd3e70	A patient with @DISEASE$ (CLL) is described who presented with @PHENOTYPICFEATURE$, headache, and hyponatremia.	false
+9e6ff2d34ba4fda8290bb25c80e03424e2cc25d1	An 82-year-old man known case of @DISEASE$ (CLL) presented with @PHENOTYPICFEATURE$ and weakness.	false
+860691c6ba0d998df602f0816cb2fc8050ac5b21	A 69-year-old man with @DISEASE$ presented with @PHENOTYPICFEATURE$ and a productive cough.	false
+0cb09a18bc96ef06c08cc2b28456473875d76c32	A 70-year-old woman with a 2-year history of @DISEASE$ (CLL) developed headache, @PHENOTYPICFEATURE$, chills, and weakness.	false
+b9c868fdea604edd8629f3b05ae521fe0ea1d204	An HLA-compatible platelet transfusion was followed by chills, @PHENOTYPICFEATURE$, and severe respiratory distress in a multitransfused patient with @DISEASE$.	false
+2667ba977b712cbbbd173e6fa30fcabbcfdfe98f	Therapeutic targeting of PI3K pathway components has improved outcomes in @DISEASE$, kidney cancer, @PHENOTYPICFEATURE$, and neuroendocrine tumors.	false
+fe1c64d94a801d892e39dd911872412aa8935730	In three groups of patients with @PHENOTYPICFEATURE$, chronic myelocytic leukemia and @DISEASE$, the fibrinolytic activity, kininogen level and kininase activity in the peripheral blood and bone marrow punctates were analyzed.	false
+34b1f8bb00d71c37cb212106d7c43662ceec0577	Early cortical cytotoxic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2b74abc753696751c8c9ecee83334a228175ea16	Together with the manifestations of high fever, @PHENOTYPICFEATURE$, diffuse petechial rash, bulging fontanel, and leukocytosis, it is a clear case of @DISEASE$, while CMV detection had no clinical relevance.	false
+b59c0bc46b2904f8aca59dc843f8edec1ea044b3	@PHENOTYPICFEATURE$ was found in 32% of patients and this proportion was similar for survivors of pneumococcal and @DISEASE$.	false
+68c6e4f0e06ba220075b68205bbdbd3872e47234	We conclude that in @DISEASE$ patients without generalized tonic-clonic seizures, both the excitability of the SI and transcallosal conduction are relatively normal, probably decreasing susceptibility to @PHENOTYPICFEATURE$.	false
+fb1e1866b65f455e6e8012d19dcd5eda0d9b510b	New antiepileptic drug (AED) options for @PHENOTYPICFEATURE$ types have been adopted for use as treatment for @DISEASE$.	false
+2e597a97e3dd217f2b14e7e387529dd3bcc48e71	Cortical sensorimotor alterations in @DISEASE$ patients without @PHENOTYPICFEATURE$.	false
+cd4bcd7962d3b702047c920042bae2d50e411b8a	He had clinical characteristics of @DISEASE$, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and @PHENOTYPICFEATURE$ of the feet, and growth failure.	false
+73c1b13c6c51bd96d2260ffea45cbf7eff32b952	@DISEASE$: is this child prone to @PHENOTYPICFEATURE$?	false
+b7e1c4556c300249643358c7464bc78768b40be6	MRI identified @PHENOTYPICFEATURE$ (@DISEASE$) in 2.0% of adult patients.	false
+97aa6c89f991e5e840ec505d5a47d9c4fe2c48b4	To explore the clinical characteristics and audiologic outcomes in children with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a9df979c5e3e681b83a59a09258e2aa2f7155fda	Her mother was prelingually deaf and displayed @PHENOTYPICFEATURE$ (@DISEASE$) along with goiter.	false
+87c1b5ba6f2892db1f4ddeabd5b5f417afa9e176	@PHENOTYPICFEATURE$ (@DISEASE$) is an inner-ear malformation associated with sensorineural hearing impairment.	false
+451cd0cca70b7fd813361233d1023a9a4a1195c1	@PHENOTYPICFEATURE$ (@DISEASE$) is the most common inner ear malformation.	false
+2f86241b8ea3567a428a09cfb31d5500f99e4d54	@PHENOTYPICFEATURE$ (@DISEASE$) related with recurrent benign paroxysmal positional vertigo (BPPV).	false
+735ff5ad585520c3b81a2ed951655d9f97783045	To determine audiometric outcomes and complications of cochlear implantation in patients with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1c9e0d113e6a6d8541362a4d8dbe693d49f3c1f3	@PHENOTYPICFEATURE$ (@DISEASE$) and Mondini malformation (MM) of the cochlea.	false
+bdb7f6be13f5af12bd5c39f18c74ae23215cbd0a	Many SLC26A4 mutations have been identified in patients with nonsyndromic @PHENOTYPICFEATURE$ (@DISEASE$).	false
+5b5a114814fc70f53c4e01a278dee979f3d8af73	These features are generally accompanied by malformations of the inner ear, as @PHENOTYPICFEATURE$ (@DISEASE$).	false
+3ae4d0ace56bd573664a7ab1db049f1a98411fa4	Six children of similar ethnic origin with congenital myopathy, cleft palate, malignant hyperthermia (or susceptibility to @DISEASE$), and @PHENOTYPICFEATURE$ are presented.	false
+1c953c7ec977c59bc12d919eca29bbf3591ac2c6	Six children of similar ethnic origin with congenital myopathy, cleft palate, @DISEASE$ (or susceptibility to malignant hyperthermia), and @PHENOTYPICFEATURE$ are presented.	false
+c87d13aa83566096de46e592686b2d531c71e20a	Joint contractures, generalised myotonia, @PHENOTYPICFEATURE$, and facial dysmorphism are common features; @DISEASE$ is a potentially lethal complication during anaesthesia.	false
+bfb0f4f6d41e36ef70b9172d6ebb22b173d35b0a	In 1973, King described a subgroup of @DISEASE$ patients with slowly progressive myopathy, short stature, kyphoscoliosis, @PHENOTYPICFEATURE$, cryptorchidism, and a characteristic facial appearance.	false
+f5930c3f90efc870f041e0e900db23567ecc7870	Native American myopathy: congenital myopathy with cleft palate, @PHENOTYPICFEATURE$, and susceptibility to @DISEASE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+564302f29b1cbd3677cf045fa92bd0d0b1e8c5a2	@DISEASE$ (MH) is an autosomal dominant @PHENOTYPICFEATURE$.	false
+080980250a38306b1b337aab383ab94924543b9e	hyperkalemia, bedridden patients, rhabdomyolysis, muscle trauma, burns, infusion of neuromuscular blocking agents, acute renal failure, chronic renal failure, intraocular @PHENOTYPICFEATURE$, intracranial hypertension, statin use, @DISEASE$, neuromuscular disease, spinal cord sectioning, bradycardia < 50 bpm, succinylcholine allergy, and pseudo-cholinesterase deficiency.	false
+a82e1b2b0eada3b26413b872b8118b021ac68fba	In gastrocnemius muscles, MAPs increased in disorders such as Duchenne MD, Fukuyama type congenital MD, facioscapulohumeral MD, myotonic dystrophy, dermatomyositis, Kugelberg-Welander syndrome, viral myelitis, @DISEASE$, @PHENOTYPICFEATURE$ and schizophrenia.	false
+4600ca75003e349862ebb2d61b40276061b23e0e	The relationship between a hypertonic reaction to suxamethonium and neuromuscular disease (including myotonic disorders and the @DISEASE$ @PHENOTYPICFEATURE$) is considered.	false
+39abc400f81d7693eec6b6ed9b508ba511a014bc	Palmitate oxidation was significantly less than normal (P less than or equal to 0.01) in Duchenne muscular dystrophy, congenital nonprogressive @PHENOTYPICFEATURE$, congenital muscular dystrophy, @DISEASE$, and denervation, depending on the internal reference used.	false
+38ab1a42b9d62f41e9446a017709f6f3b3666990	The @DISEASE$ (HUS) was not occurred, but systemic @PHENOTYPICFEATURE$, ascites, pleural effusion and pulmonary edema with hypoxyemia gradually appeared.	false
+fd1a5bd5cb737c29cad49022d5a813bfc645015d	The hemolytic-uremic syndrome (@DISEASE$) was not occurred, but systemic @PHENOTYPICFEATURE$, ascites, pleural effusion and pulmonary edema with hypoxyemia gradually appeared.	false
+80bd06cfe12cfdd88150a6718b44d85a5bcb0032	Cobalamin C disease should be considered in the diagnosis of patients presenting with @DISEASE$ in infancy who have unexplained megaloblastosis, pancytopenia, neurologic impairment, and @PHENOTYPICFEATURE$.	false
+45a15d9d1d8715cbe4ff490a84a4dd4939ddcb2b	Severe complications included @DISEASE$, sepsis associated with septic arthritis and osteomyelitis, and @PHENOTYPICFEATURE$.	false
+36a2cc39a4ce8bdaf00c9f9f9cd0c1dfaf20b32a	Shiga toxin-producing Escherichia coli (STEC) have been implicated as the cause of enterotoxemias, such as @DISEASE$ in humans and @PHENOTYPICFEATURE$ disease (ED) of pigs.	false
+688c3df7d1676c84b8d8e58c423a90dcdc42ed4c	A 28-day-old boy presented with @PHENOTYPICFEATURE$, hypotonia, pancytopenia, and features of @DISEASE$ (microangiopathic hemolytic anemia, thrombocytopenia, and renal failure).	false
+7f46d286b2d5365693f692e2f0e4581da2e55249	The 3 patients with @DISEASE$ secondary to cbl-C disorder presented with progressive hemolytic anemia, acute renal failure, thrombocytopenia, poor feeding, and @PHENOTYPICFEATURE$.	false
+97f671175745ffb8429029ac5fee7a658b6d871f	Shiga-like toxin-producing Escherichia coli (STEC) causes @PHENOTYPICFEATURE$ disease in piglets and @DISEASE$ in human.	false
+3ddf0fe4b5c16068d6330ebd0a05896e8f4a26f2	Diseases in which E. coli SLTs have been implicated include diarrhea, hemorrhagic colitis, and @DISEASE$ in humans and @PHENOTYPICFEATURE$ disease in pigs.	false
+4924567356453035458094cdb1eec50dfa456e40	These included Gram-negative bacteremia, intussusception, internal hernia strangulation, @DISEASE$ and @PHENOTYPICFEATURE$ in patients with chronic diarrhea.	false
+e6f272338d01d4ceb17956159aae7ebfd76100dc	In addition, cyclosporine has been associated with hypertension, @DISEASE$, increased incidence of intravascular thrombotic events, @PHENOTYPICFEATURE$, gum hyperplasia, pericardial effusion, and lymphoproliferative disorders.	false
+ae7eeb949cc2a00c240ed6be312bfa1919a3f7f2	The present study aimed at investigating the possible relation among white matter damage in DTI, quantitative electroencephalography (EEG) spectral power, and cognitive @PHENOTYPICFEATURE$ in Alzheimer's disease (@DISEASE$) and mild cognitive impairment (MCI) patients.	false
+59d844b68097cd0075863c58c0c790ac073c3013	While atypical variants of @DISEASE$ are commonly associated with an early age at @PHENOTYPICFEATURE$, all focal forms of AD may potentially appear in DS.	false
+607229c0a43c86affd8904f43f7bf509fe91076d	While atypical variants of AD are commonly associated with an early age at @PHENOTYPICFEATURE$, all focal forms of @DISEASE$ may potentially appear in DS.	false
+72ad4510b7b42138a5cba08e58f0bbb02915f434	Familial Danish Dementia (FDD), an early-@PHENOTYPICFEATURE$ non-amyloid-? (A?) cerebral amyloidosis, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (@DISEASE$).	false
+9a32e78a92f3facffa168adc12d0bf21457f947c	The N200 and P300 evoked potentials have proved a useful tool in monitoring children with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f3f047427349f2cf104de8ac46b1604a21c902c2	In the present study, we assessed interleukin (IL)-1? and APOE?4 polymorphisms for association with susceptibility of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+a31bf0dff564dcf4706bf67f6ae955722ac1c81a	Atopic dermatitis (AD) is associated with chronic itch, allergic disease and @PHENOTYPICFEATURE$, all of which might increase the risk of attention deficit (hyperactivity) disorder (@DISEASE$/ADHD).	false
+61a1caa7865c910d426daeedb007ce66d840e513	Developmental milestones, problems with bladder and bowel control, @PHENOTYPICFEATURE$, allergies, and handedness were compared in 247 consecutive Tourette syndrome (TS) patients, 17 patients with attention-deficit disorder (ADD), 15 patients with @DISEASE$ secondary to TS (ADD 2(0) TS), and 47 random controls.	false
+0c8cb004b5e7d14d9b336a37bee8d3cf35fde9cc	Developmental milestones, problems with bladder and bowel control, @PHENOTYPICFEATURE$, allergies, and handedness were compared in 247 consecutive Tourette syndrome (TS) patients, 17 patients with attention-deficit disorder (@DISEASE$), 15 patients with ADD secondary to TS (ADD 2(0) TS), and 47 random controls.	false
+8df207253315912b5c16ab2f788d246ee4bacaab	In conclusion, this study provides the first evidence indicating that the IL-1?-31TT genotype and homozygous APOE?4 combined are associated with increased risk of developing @DISEASE$ with @PHENOTYPICFEATURE$.	false
+3767f1ae0d3d8fe44791ed031a4a7be2229669e4	Moreover, LC neurodegeneration is not only a consequence of AD, but also drives clinical and pathological manifestations of @DISEASE$, such as microglial dysregulation, @PHENOTYPICFEATURE$, cognitive decline, and neurovascular dysfunction.	false
+5509b23d10aa4a4f3cedb3174a5f44a70b417a45	Moreover, LC neurodegeneration is not only a consequence of @DISEASE$, but also drives clinical and pathological manifestations of AD, such as microglial dysregulation, @PHENOTYPICFEATURE$, cognitive decline, and neurovascular dysfunction.	false
+678d412f647996f3f66eed314e5fb8890721eb62	Inconsistent alertness and orientation (sluggishness, @PHENOTYPICFEATURE$, daydreaming) were reported to accompany Attention Deficit Disorder (@DISEASE$) without Hyperactivity in DSM-III.	false
+dd65e8be67577cd54fd9e333a0046be91215166a	This suggests either that @DISEASE$ and neurofibromatosis 1 are allelic, or that there is a series of contiguous genes for pulmonary stenosis, neurocutaneous anomalies, short stature, and @PHENOTYPICFEATURE$ on 17q.	false
+11df7fee45d9a30667ba7e18cf99e3c80b0af3d1	Independent preschool variables identified by the @DISEASE$ were @PHENOTYPICFEATURE$ (OR 3.3), poor parenting skills (OR 4.0), behaviour problems (OR 2.8), enuresis (OR 2.4), poor visual acuity (OR 1.8), and otitis media with effusion (OR 1.4).	false
+b75a3202d87b25acda0f9f9ceeb6a8dde71a9b73	The objective of this paper is to compare and contrast the clinical, neuropsychological, and neuroimaging findings in patients with mild @PHENOTYPICFEATURE$ (MCI) associated with underlying Alzheimer's disease (AD) versus @DISEASE$ (LBD) pathology.	false
+86a4b044c16f00a087d036b4ee99777c2e5a8bf9	@PHENOTYPICFEATURE$ in Parkinson's disease and @DISEASE$: a spectrum of disease.	false
+f3cc6aa93db95e38c2b3ce4790c2cca7ed3e0b65	Among 279 patients with MCI, 163 (58.4%), 68 (24.4%), and 48 (17.2%) were diagnosed with Alzheimer's disease, vascular @PHENOTYPICFEATURE$, and @DISEASE$, respectively.	false
+e2b64cbd52a186bdaac56538ebc74cf35117a607	431 consecutive patients were enrolled in 10 Italian neurological centers: 204 had Alzheimer's disease, 138 mild @PHENOTYPICFEATURE$, 43 vascular dementia, 25 frontotemporal dementia and 21 @DISEASE$ or Parkinson's disease dementia.	false
+d7e336ef321bc6a31a87bb654134d4cdc7ff6f00	Dynamin1 concentration in the prefrontal cortex is associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e61bb1bfdbd5412b9ebd826c249064ac5c690350	We recruited 75 patients over 60 with mild @PHENOTYPICFEATURE$ (MCI), 33 with probable MCI with @DISEASE$ (MCI-LB), 15 with possible MCI-LB and 27 with MCI with Alzheimer's disease.	false
+46a391d4076710b06648b006b736d3818d5a7df9	While it is easy to differentiate posterior cortical atrophy from Alzheimer's disease, some @PHENOTYPICFEATURE$ are common with those of @DISEASE$ and corticobasal degeneration, which results in diagnostic mistakes.	false
+72ca4a54b458e632b795b74c7ea9c9dd4002ee24	Neurofibrillary tangles (NFTs), hippocampal sclerosis, lacunar infarcts, hyaline atherosclerosis, siderocalcinosis, and @DISEASE$ were independently associated with @PHENOTYPICFEATURE$.	false
+6fff7e46fb810c59b3c095ddcdffe21922d9d9ab	We studied 159 patients: 76 with Alzheimer's disease (AD), 35 with mild @PHENOTYPICFEATURE$ (MCI), 28 with frontotemporal dementia (FTD), and 20 with @DISEASE$ (LBD).	false
+2feee7b3ec4b34c22a2332349303d12409b523a5	Psychomotor slowing in mild @PHENOTYPICFEATURE$, Alzheimer's disease and @DISEASE$: mechanisms and diagnostic value.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d24e590814071b5935ad42b422669b86b05d348	A @PHENOTYPICFEATURE$ was the source in patients suffering from @DISEASE$.	false
+842b892e02ff8dd55e79f7c8a5ca744251a7580f	[@PHENOTYPICFEATURE$ and ulcers of the limbs in a patient with @DISEASE$].	false
+9953c4c33e2c0ea0ebb7f1653f28c8407d75f946	A 54-y-old patient with @DISEASE$ (RA) and bilateral lower-limb @PHENOTYPICFEATURE$ is presented.	false
+c5bedfc989ed2bf71a83d09d5f8f4c857558ff10	Objective and subjective @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+6a1c4c348a53a44b8699b13d67d7a581643a3fc2	Investigating @PHENOTYPICFEATURE$ in adults with @DISEASE$.	false
+04c8e94a7962d445842303bcbd3a3397e0e308ae	Palmar @PHENOTYPICFEATURE$ and spider angiomata in @DISEASE$.	false
+3868a99c171e405fa17f5c0e86cbbd9b8a5262e8	Twenty-two patients with @DISEASE$ and moderate to severe bilateral @PHENOTYPICFEATURE$ were treated with artificial tears and a soluble slow-release artificial tear insert in a crossover trial.	false
+faacce9b32bc5c8e54410732a9ab8b117872e373	@PHENOTYPICFEATURE$ in @DISEASE$ due to infection with Mycobacterium haemophilum.	false
+939b24394f90588780400859f1b4cbc860572ab6	Lactoferrin in @DISEASE$ and systemic lupus @PHENOTYPICFEATURE$.	false
+447a19552555fbd35232841780d69b9917113735	A 4-year-old male with @PHENOTYPICFEATURE$ and two episodes of neurodevelopmental regression was identified to have a mutation in the TMLHE gene, which encodes the first enzyme in the carnitine biosynthesis pathway, and concurrent @DISEASE$.	false
+9133d662874277da604c1674c6762072c14a584c	That brain carnitine deficiency might cause autism is suggested by reports of severe @DISEASE$ in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for @PHENOTYPICFEATURE$.	false
+3df4d58176c1aa14977bf3905cf747b7d6d223b0	That brain carnitine deficiency might cause autism is suggested by reports of severe @DISEASE$ in @PHENOTYPICFEATURE$ and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism.	false
+04431e2a11563eadcb21b254565d519ac84f8e56	That brain carnitine deficiency might cause @PHENOTYPICFEATURE$ is suggested by reports of severe @DISEASE$ in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism.	false
+fcb451c4c9afbb7bd019bb3b48a645ccb003aaac	The patient developed hypotonia, hearing loss, mental retardation, short stature, cataracta, @PHENOTYPICFEATURE$, DeToni-Fanconi-Debr? syndrome and @DISEASE$.	false
+8487c27aeee78c2c78ac5aa4fc89eccc00962c2c	@DISEASE$ is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with @PHENOTYPICFEATURE$ and radiographically by cone-shaped epiphyses, mainly in hands and hips.	false
+c4eeb7e7ea32e6d49a9a1baac1950c5596a6644f	Indeed, defects in lytic granule secretion lead or are related to serious and often fatal diseases, such as @DISEASE$ (FHL) type 2-5 or Griscelli syndrome type 2. A number of reports highlight the role of several proteins involved in lytic granule release and NK cell-mediated killing of @PHENOTYPICFEATURE$ cells.	false
+0c779f1381be3c17d8c1e18dbd7aeee638f42459	In the present overview, practical application of the visual evoked potential (VEP) in paediatric neuro-ophthalmology is described across a wide range of ophthalmogenetic disorders, including @PHENOTYPICFEATURE$, @DISEASE$ and spastic paraplegia.	false
+32fcbea14a8bff316462e3981b955e36c7604778	The prevalence of depression and @PHENOTYPICFEATURE$ was significantly higher in @DISEASE$ patients.	false
+cf4d6a6d96c104d3bc1a177aa91f10c0a405f154	A 29-year-old woman was diagnosed with @DISEASE$ associated with @PHENOTYPICFEATURE$, and was treated by daily PP in addition to a steroid, an immunosuppressant, vincristine, and cyclophosphamide.	false
+fcbcb48a8500f52a6208bc618b96558c98bba9fc	Other associated diseases included toxemia of pregnancy, renal failure, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, and @DISEASE$.	false
+00cf406a41c928cb144b04674af1b2311c03ab9a	Data on national apheresis use during 3 Canadian RCTs for multiple sclerosis (1986-1988), @DISEASE$ (1982-1988), and myeloma cast @PHENOTYPICFEATURE$ (1998-2000) were obtained from 19 major medical centers in Canada.	false
+40482eb2de946d1503dca8a04afad9901037cb4c	One week after admission, she developed @PHENOTYPICFEATURE$ and coma and was diagnosed with @DISEASE$ (TTP) when fragmented red cells were found on the peripheral blood smear.	false
+68fcd8e1db0ec73043804ce845d41b13a3e6bcf1	Problems prevalent in patients with @DISEASE$ attacks or with long-term TTP remission, including increased body mass index, major depression, @PHENOTYPICFEATURE$, hypertension, and premature death, are somehow associated with low tissue-plasminogen activator activity.	false
+bd6b8c4f1179292d26b0d446c768654d745f993a	This is the first report where @PHENOTYPICFEATURE$ of congenital origin is associated with @DISEASE$.	false
+bc58ffd27fa3bd2f6f289bbdecff7da06f2ed1e6	However, a myriad of congenital defects, @PHENOTYPICFEATURE$, injuries, and infections can lead to @DISEASE$, which may be diagnosed by associated physical findings.	false
+8d5d3a809459c2ac8259599fe66424cb766e1ec3	Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6913d84c2433a32ee93dfc681653fb581afb5ad2	All presented with large @PHENOTYPICFEATURE$, visual field deficits, and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+85d0ce29e8e2b17377969ab4ba1cd702c85cb626	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and @DISEASE$.	false
+3b8e5ae6b51ea09deadd3e39083b79b717c20754	Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, @PHENOTYPICFEATURE$, deficient taste and smell, inguinal hernias, @DISEASE$ with cryptorchidism, and normal intelligence.	false
+13feb2690ea83b366a836dedc6b9327f3ebf6a03	The prevalence of GH deficiency, male @DISEASE$, secondary hypothyroidism and PRL deficiency were higher in the group of larger @PHENOTYPICFEATURE$ diameter (p<0.0001,	false
+c7a8e1b34033e98704771b435f41fb52e0aaccc4	We describe a 32 year old man who presented with @PHENOTYPICFEATURE$, peripheral neuropathy, primary adrenocortical insufficiency adn @DISEASE$.	false
+c4e449c6abade34e58bf1d5a6e06e4b62a3d0a92	Gynecomastia disclosing diagnosis of Leydig cell @PHENOTYPICFEATURE$ in a man with thalassemia, @DISEASE$ and testis microlithiasis.	false
+f35a39a0cf36cfc5e6e3edfe34d527ff41d0d64b	@PHENOTYPICFEATURE$ or @DISEASE$ constitutes the main histologic differential diagnosis.	false
+8eee8e5d39a735af292b859266bf755cdf029319	Intracranial @DISEASE$ showing @PHENOTYPICFEATURE$ of the skull has not been reported in the cases.	false
+7174d5d206c124148619f298665714a42567919b	The differential diagnoses are papillomatosis, amyloidosis and sarcoidosis @DISEASE$ @PHENOTYPICFEATURE$ and calcified paratracheal lymph nodes.	false
+196727973a166000570b10c4514b7d87031c3147	The differential considerations of a calcified lesion include calcified granuloma, @PHENOTYPICFEATURE$, carcinoid, osteosarcoma, @DISEASE$ and lung metastases or a primary bronchogenic carcinoma among others.	false
+accfa7b99d44551eb4777f9076790fe640c0275c	Histologic evaluation of biopsy specimens collected via the CTSBS revealed results suggestive of malignant neoplasia (specifically, @DISEASE$, hemangiopericytoma, or undifferentiated sarcoma) for 3 dogs, mild mixed-cell inflammation for 1 dog, and @PHENOTYPICFEATURE$ for 1 dog.	false
+ee992b12e49957d9dfb7a6922e48a9657265341d	Dural @DISEASE$ tends to be less calcified or even to lack matrix calcification; it is associated with bone erosion but not with bone destruction or @PHENOTYPICFEATURE$; and it usually appears avascular at arteriography.	false
+31002317b18bdb0f8dd59eb1e397410cb70b3656	Some conditions should be ruled out: 1. tumor from the chest wall, 2. @DISEASE$ of bone discovered after operation, 3. ovarian teratoma found prior to operation, 4. patient with history of @PHENOTYPICFEATURE$ of the lung, and 5. atypical pathology.	false
+225788e84a9d7062616befcc68dcfa30e0b6897b	Treatment of @DISEASE$, hyperosmolar @PHENOTYPICFEATURE$ and severe diabetes with low I.V. Intermitent doses of insulin.	false
+4034fd07f0039a9848c25adcbe301a894ae863c5	The etiology of the cases presenting with bilateral simultaneous basal ganglion hemorrhage include migraine, lightning stroke, hyperglycemic hyperosmolar coma, hypertension and @DISEASE$ @PHENOTYPICFEATURE$.	false
+cb803e9a4803cb023a589c12f06adfa149b30a74	The etiology of the cases presenting with bilateral simultaneous basal ganglion hemorrhage include migraine, lightning stroke, hyperglycemic hyperosmolar @PHENOTYPICFEATURE$, hypertension and @DISEASE$ coma.	false
+2a221b52fb3dc57b65a9f459b80ec861f24a4044	Since epileptic seizures are rare in patients with @DISEASE$, such @PHENOTYPICFEATURE$ may indicate the existence of MELAS syndrome.	false
+1204bf39ba8159b2f9c08e0e80e46ea3e9311fae	Since @PHENOTYPICFEATURE$ are rare in patients with @DISEASE$, such seizures may indicate the existence of MELAS syndrome.	false
+a14237d899fc9d183e51491e5e039b124e689cab	[Severe @DISEASE$ coma and hyperosmolar @PHENOTYPICFEATURE$].	false
+362dd231a25569420a96207dffc3442f2cf47b51	@PHENOTYPICFEATURE$ in children with epidemic @DISEASE$ at Tikur Anbessa Hospital.	false
+ec1bc2dd3e745e8b11c622e43cace8698cf33a69	Transient @PHENOTYPICFEATURE$ in a young child with @DISEASE$.	false
+c74c9b992f3d1fdff03fc4b3c6904f1ff6dddcb4	To review the outcome of @PHENOTYPICFEATURE$ in children who have had confirmed @DISEASE$.	false
+08da6f01643cc82043f1b935a030d3091c05380d	* @PHENOTYPICFEATURE$ occurs in 30% of children who have pneumococcal and 10% of those who have @DISEASE$.	false
+f490feae6eb28caf99a6a731ad7af6c8e15cce40	Positive cortical vein sign was seen at US in 12 patients (group A): nine with benign enlargement of subarachnoid spaces, two with @PHENOTYPICFEATURE$, and one with @DISEASE$.	false
+13403b00ca17a4d4e38e893432704d9c13dcca57	Persistent @PHENOTYPICFEATURE$ as a complication of @DISEASE$.	false
+4f90367710f644c20227a4b3b56da1fc05856bb8	The development and evaluation of @DISEASE$-deficient animal models provided an option to assess the contribution of TSPs to cardiovascular pathology such as (myocardial infarction) MI, cardiac hypertrophy, @PHENOTYPICFEATURE$, atherosclerosis, and aortic valve stenosis.	false
+d21ddeb381346fd61f2e688c947fb04074f6141b	Subjective audiovestibular complaints of participants showed a significant difference among @DISEASE$ patients and the two other groups regarding hearing loss and @PHENOTYPICFEATURE$, but not vertigo or aural fullness.	false
+7a9caa91eeca0b37214d1feb78cb591dedc254f0	Citrullinemia or @DISEASE$ in its classical form presents in the neonatal period with poor feeding, hyperammonemia, @PHENOTYPICFEATURE$, seizures, and if untreated can be fatal.	false
+92c843b1646000af6ca5b1647f75b8cf80dd9be2	Neonatal onset of @DISEASE$ (ASD; citrullinemia) should be brought in mind in the differential diagnosis of @PHENOTYPICFEATURE$ in association with hiccups in the neonatal period suggesting inborn errors of metabolism.	false
+84aa6a034780a45585986dd80d47dbb504a9a333	The aim of this research was to determine the impact of the strategy of multi-micronutrient supplementation (@DISEASE$) on the childhood @PHENOTYPICFEATURE$ in three Andean regions of Peru.	false
+31198b14c553c0613345b02c08d5c7cfe34da63e	Familial dementias, which include Alzheimer disease (AD), familial British dementia (FBD), and @DISEASE$ (FDD), are caused by dominantly inherited autosomal @PHENOTYPICFEATURE$ and are characterized by the production of amyloidogenic peptides, neurofibrillary tangles (NFTs) and neurodegeneration (St George-Hyslop and Petit, 2005; Garringer et al., 2009).	false
+075fd752ca792ff404e3f5f10074489bf162b014	Familial dementias, which include Alzheimer disease (AD), familial British dementia (FBD), and familial Danish dementia (@DISEASE$), are caused by dominantly inherited autosomal @PHENOTYPICFEATURE$ and are characterized by the production of amyloidogenic peptides, neurofibrillary tangles (NFTs) and neurodegeneration (St George-Hyslop and Petit, 2005; Garringer et al., 2009).	false
+62ff993d3629b2102a11e1f81140ab3c14e5b8c5	Results: @DISEASE$ incidence was 29.58%; we identified four main categories after detailed diagnostic work up:1) Fictitious fevers and abitual @PHENOTYPICFEATURE$; 2) Systemic vasculitis with atypical clinical features; 3) Rheumatic polymyalgia; 4) Steroid-responder fevers.	false
+8f54faad9b07c27cc7f9fa77e496b52f36f9c3eb	@DISEASE$, tuberculoma, @PHENOTYPICFEATURE$, mental retardation, spasticity, hearing impairment, vasculitis and mortality outcomes were compared.	false
+18e6e29aae2de2ae8b2c60a13d42a94f0b06903b	@DISEASE$, tuberculoma, hydrocephalus, mental retardation, spasticity, @PHENOTYPICFEATURE$, vasculitis and mortality outcomes were compared.	false
+ada0efe935e6c632e95531586246620ec861478b	[Diabetes (insipidus/mellitus)-@DISEASE$-@PHENOTYPICFEATURE$].	false
+1f863e28719b7a68ceeebb39830cf22634b20b52	She has underlying delayed development, seizures, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+40b34b3fdd7a17a17c0ffba7646b456458ede13e	Other signs were frequently associated, such as @PHENOTYPICFEATURE$, ophthalmologic anomalies (glaucoma, megalocornea and @DISEASE$), deafness and epilepsy.	false
+bd22d248dc77f3027c124b5724b1e166b031722e	Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and @DISEASE$), @PHENOTYPICFEATURE$ and epilepsy.	false
+61348464df51187837e0b756f942d71298afe357	GAPO (@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and @DISEASE$.	false
+e2d10a1c29290bd63259119456bc8ec98b496171	GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) as a rare genetic disorder includes @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and @DISEASE$.	false
+6944683e8065d6e7c25791a0065846e362c19c40	GAPO (@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and @DISEASE$) as a rare genetic disorder includes growth retardation, alopecia, pseudoanodontia, and optic atrophy.	false
+8232a2d52d5f20d065f596320369dd862b9185d5	GAPO (growth retardation, alopecia, pseudoanodontia, and @DISEASE$) as a rare genetic disorder includes @PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy.	false
+f5d48a17cf6bcb89aca286757360399d2d5c131e	Bilateral @DISEASE$ with @PHENOTYPICFEATURE$.	false
+b08a90fd7cc7aba24959ce61addced4eb8643129	Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both @PHENOTYPICFEATURE$ and @DISEASE$ (n=2).	false
+e3f9dd70b7c077f5fee5b0b6c3b14893a9b84d0c	Some symptomatic children showed residual impairments: hearing impairment (n=2), @DISEASE$ (n=2), both @PHENOTYPICFEATURE$ and optic atrophy (n=2).	false
+bec28527385e889c9bdc64a005b0789fe7a801db	Some symptomatic children showed residual impairments: @PHENOTYPICFEATURE$ (n=2), optic atrophy (n=2), both hearing impairment and @DISEASE$ (n=2).	false
+d7df414763a22d9b85506f78950018a4bc752a6c	Some symptomatic children showed residual impairments: @PHENOTYPICFEATURE$ (n=2), @DISEASE$ (n=2), both hearing impairment and optic atrophy (n=2).	false
+7424f419d42e3b3cc71954ab80a114c5f49a29ec	[@PHENOTYPICFEATURE$-alopecia-pseudoanodontia-@DISEASE$].	false
+9e6d11f07ca73d19bf875888db85d8d1f0e4dca3	The causes of blindness were cataract, glaucoma, late age-related maculopathy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+74637a6e9870ad043cf37892ceb5d77f913178cf	Untreated profound biotinidase deficiency results in a wide range of clinical features, including @DISEASE$, cutaneous @PHENOTYPICFEATURE$ loss and developmental delay.	false
+868a33d4e8cbe4f4c957774c7f706ec2c8879e72	These syndromes include juvenile polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the phosphatase and tensin homolog gene (PTEN) @PHENOTYPICFEATURE$ tumor syndromes (Cowden and Bannayan-Riley-Ruvalcaba syndromes), which are autosomal-dominantly inherited, and @DISEASE$, which is acquired.	false
+c26d53bdf96e194c419c77d0c39771ea42185141	We aimed to investigate the occurrence of @PHENOTYPICFEATURE$ in patients diagnosed with @DISEASE$.	false
+3a580dbaf2016f343fecd728c8f436b3bfb61f95	In conclusion, @PHENOTYPICFEATURE$ is a common asymptomatic abnormality in patients with @DISEASE$.	false
+ea902b7fdd226c42a529568211d3c829aa78bedf	Only one study investigated the occurrence of @PHENOTYPICFEATURE$ in patients diagnosed with @DISEASE$ through electrophysiological study and showed alterations in 35% of patients.	false
+87cc910300db888aaf422c67c65431733f8154a0	To study the risk factors for @PHENOTYPICFEATURE$ in presumed @DISEASE$-related uveitis (TRU).	false
+cbecba19d01e0a1c05d293000b2357eb3528ce1d	PurposeTimely diagnosis of intraocular @DISEASE$ (IOTB) along with detection of drug resistance can save many eyes from @PHENOTYPICFEATURE$.	false
+4de656e2768c5f56072fbcff0c7dd5aa1054b1b1	Mycobacterium @DISEASE$ (M.tb), the etiologic agent of tuberculosis, is a @PHENOTYPICFEATURE$ health threat because of the enormous reservoir of subclinical latent tuberculosis infection (LTBI).	false
+605c75c41f99a5010cfc6ec5ca85d1f1490ff982	Mycobacterium tuberculosis (M.tb), the etiologic agent of tuberculosis, is a @PHENOTYPICFEATURE$ health threat because of the enormous reservoir of subclinical latent @DISEASE$ infection (LTBI).	false
+5282ae65bb5ea73ab4ee6b85a3db60e5824d40eb	Risk of @PHENOTYPICFEATURE$ for people with @DISEASE$: results from a population-based cohort study.	false
+af7cde1da35fb093316e9ee4c5e096e084c78eb0	The most frequent diagnoses were Chagas disease, @PHENOTYPICFEATURE$, latent @DISEASE$ infection, intestinal parasitosis, hepatitis B virus (HBV) infection, and human immunodeficiency virus (HIV) infection.	false
+4780dbb6c71972f2791280c08829bcf3ed689e67	During the anti-tuberculous therapy, @PHENOTYPICFEATURE$ can be related to ethambutol toxicity or the @DISEASE$ infection itself.	false
+782aa9c053f36aa692c9d6e3e5368c7805134186	Our diagnosis was tuberculosis-related @PHENOTYPICFEATURE$, which could be due to neuroretinitis, intraocular @DISEASE$ or chiasmal tuberculoma.	false
+d6b04ed3c30e1002f29e1a1d5b663d037a1abf08	Nine operationalized somatic disorders were examined: arthritis, angina pectoris, asthma, diabetes, chronic back pain, @PHENOTYPICFEATURE$, hearing problems, edentulism, and @DISEASE$.	false
+15d46b5dfa930b6097f8d9559f0f24177906e885	A significant rise of the calcitonin level and change in the ratio of calcitonin and the parathyroid hormone were established in the blood serum of patients with tumor metastases to the skeleton, spinal @DISEASE$ and @PHENOTYPICFEATURE$ cranial granuloma.	false
+575b83552f0650a4cc1952e6cd82dec81694d9cf	Predisposing conditions were sequelae of @DISEASE$ or lung abscess, bronchiectasis, bullous emphysema, @PHENOTYPICFEATURE$/ lymphoma, diabetes mellitus, corticosteroids and/or immunosuppressant administration and antiblastic chemotherapy.	false
+12380d0fa5eced15002bb0056fc064711db829ab	Both forms of AD have increased propensity to @PHENOTYPICFEATURE$, suggesting a novel mechanism for infection in @DISEASE$.	false
+17415a41dd57d05313e5fc537b564da8ab2ab9ee	This study compared the first year growth-promoting effect of an individually adjusted GH dose (@DISEASE$) versus a fixed high GH dose (FHD) in pre-pubertal children born SGA with @PHENOTYPICFEATURE$.	false
+32cabf5fbb7f4fb4fda7e04e5db9449fc3bfb403	Studies have examined the success of @DISEASE$ at saphenous closure and improving leg pain and @PHENOTYPICFEATURE$.	false
+d11dfeb04edd838898190f4ca04ea4bc6a5a75f7	The absence of dystrophin leads to myofiber membrane fragility and necrosis, with @DISEASE$ @PHENOTYPICFEATURE$ and contractures.	false
+7b6cd6c397c12b28bff264ab8065c83beb933cab	Zika virus (ZIKV) infection is closely associated in the fetus with @PHENOTYPICFEATURE$ and in the adults with Guillain-Barr? syndrome and @DISEASE$ male infertility.	false
+6f3e766183016323a9731456df3214b9b084ee10	Nephrotic syndrome (NS) is a clinical state characterized by massive proteinuria, hypoalbuminemia, and @DISEASE$ @PHENOTYPICFEATURE$ formation.	false
+050935278d7ec37285596d80cbc22ad97a461eb4	Pain (@DISEASE$ and NRS-101), postoperative @PHENOTYPICFEATURE$, trismus, temperature, dysphagia, and hematoma will be evaluated after 1, 2, 5, and 7 days.	false
+f7e7040ebdeff29d211d59dde6bb584484672ba8	Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease characterized by the progressive degeneration of upper and lower motor neurons (MNs), leading to @PHENOTYPICFEATURE$ and @DISEASE$ respiratory failure.	false
+ae292ee610c54fca5034ef53972e1df5b32e4fdd	@PHENOTYPICFEATURE$-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corneal keratinocyte loss, limbal stem cell deficiency (LSCD), and @DISEASE$ blindness.	false
+d57a896cfeb8c7b0aa8dc4653572cafe0b39f9c6	It provides comprehensive data on congenital anomalies in Canada, focussing on 6 categories of congenital anomalies: Down syndrome, @PHENOTYPICFEATURE$, congenital heart defects, orofacial clefts, limb deficiency defects and @DISEASE$.	false
+3d343c95c6bcad96aa80ec1cf8b3a58ca4ba8535	The primary endpoint was the overall incidence of cardiac @DISEASE$ (cardiac death or sudden death, myocardial infarction, hospitalization for angina pectoris or heart failure, serious @PHENOTYPICFEATURE$, and coronary interventions).	false
+5716c58b9c7ee368637d1f91e3844479f063b0e0	Histopathology typically shows spongiform subcorneal and/or intraepidermal pustules, a marked @PHENOTYPICFEATURE$ of the papillary dermis, and @DISEASE$ vasculitis, eosinophils and/or focal necrosis of keratinocytes.	false
+23d416dba2d6785939d5aa289d567f8c9295ed83	@PHENOTYPICFEATURE$ in @DISEASE$: a disease-defining feature.	false
+687552876f93d0cba40e58d64c1e857743ccf0de	An unusual cause of hypertension and @PHENOTYPICFEATURE$: a case series of a family with @DISEASE$.	false
+5b634d811a17c160443be134934bb3a7504b9838	This case illustrates that extensive lipid deposition in the glomerular basement membrane may occur in patients with @DISEASE$, and it may lead to progressive @PHENOTYPICFEATURE$.	false
+24faa6399e9fd6d4272f8c25bda7b1dd2c6b0f69	We report a 20-year-old patient with @DISEASE$ (Alagille's syndrome) who developed progressive @PHENOTYPICFEATURE$ associated with extensive renal lipidosis.	false
+69bc28ac3243ca5c648475df153b60aa77f1cfde	@PHENOTYPICFEATURE$ and hypertension in @DISEASE$ with a novel JAG1 mutation.	false
+3bfa246579650cca569790fa1298b55427752b1b	@DISEASE$, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and @PHENOTYPICFEATURE$, and characteristic facies.	false
+00adcd212480b24e8deffe48d82db3b3c91c81ea	Alagille syndrome, also known as @DISEASE$, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and @PHENOTYPICFEATURE$, and characteristic facies.	false
+8a3ac6f2ee534d5339d1708a54d14af593d5ecc7	@PHENOTYPICFEATURE$ and hypertension in Alagille syndrome with a novel JAG1 mutation: @DISEASE$ is an autosomal dominant disorder involving liver, heart, eyes, face, skeleton, and other organs.	false
+2db8820e1a167d204a848b171299046e8afa6e72	@PHENOTYPICFEATURE$ and hypertension in @DISEASE$ with a novel JAG1 mutation: Alagille syndrome is an autosomal dominant disorder involving liver, heart, eyes, face, skeleton, and other organs.	false
+9c7301aa52c6584c7fc5f88d273af1e01efdccf5	Three human disorders including a @PHENOTYPICFEATURE$ (a T-cell acute lymphoblastic leukemia/lymphoma), a late onset neurological disease (CADASIL) and a developmental disorder (the @DISEASE$) are associated with mutations in, respectively, the Notch1, Notch3 and Jagged1 genes, pointing out the broad spectrum of Notch activity in humans.	false
+bd95963b59699b7bb345bded91a1a2a5f131be39	@DISEASE$ (AGS) is an autosomal dominant, multisystem disorder defined by developmental @PHENOTYPICFEATURE$, heart, eye and skeleton.	false
+6647f0a77f3ad0c70fc2e8b65e3542e3b8c5c96c	Progressive myopia and retinochoroidal dystrophy are essential features in @DISEASE$ and, together with early @PHENOTYPICFEATURE$, lead to deterioration of vision.	false
+12016e65c2a8473f5c935b3c25f68bef9aab79d9	VPS13B mutation causes @DISEASE$ (CS) consistent with the proband's phenotype (intellectual disability (ID), microcephaly, facial gestalt, @PHENOTYPICFEATURE$, joint hypermobility and neutropenia).	false
+39b65e616fa0efe3115d3abdd8b85c40aed41101	Cross-sectional studies report a relationship between childhood @PHENOTYPICFEATURE$ and @DISEASE$ (ADHD) symptoms, but the mechanisms are yet unclear.	false
+f13208754c4e1cfc682210efdf9c8909a3985a87	@PHENOTYPICFEATURE$ and @DISEASE$: a nationwide population-based prospective cohort study.	false
+e14d6ee5675cbb8e3b9578bec26d6a750ed0d3d5	@PHENOTYPICFEATURE$ and @DISEASE$ (ADHD) are prevalent in childhood and may cause functional impairment and stress in families.	false
+9035e9b53d6577aba2efc42860f05b3922621fa1	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and dysregulated motivation.	false
+912d9e830fdd38fadbc0c5d230bc293e636a26fc	Correspondingly, dysregulation of the dopaminergic system has been implicated in diseases such as schizophrenia, Parkinson's disease, depression, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b2c007b9353c6c04083af91bb14bba547a15948a	@DISEASE$ (ADHD) and cannabis use are each associated with specific @PHENOTYPICFEATURE$.	false
+73e42e412ca94c85c24a0266eaee94b4d9d22dba	@PHENOTYPICFEATURE$ among methamphetamine users with @DISEASE$ symptomatology.	false
+5eb759dfb209c0a32603c4bf74c8438b927e59ac	The patient, who has @DISEASE$, presented with @PHENOTYPICFEATURE$ at our hospital.	false
+e58c7ad5746c77ec1b17b597cec25f225cb6e503	Effect of Treating Anxiety Disorders on @PHENOTYPICFEATURE$ and Behaviors Associated with @DISEASE$: A Preliminary Study.	false
+9c833808c994b88df5e1b5962ff1556ea9bfa3fb	@DISEASE$ in older adults: prevalence and possible connections to mild @PHENOTYPICFEATURE$.	false
+7786981b8c92f0d7e5712a8e46a6744f8c7480c9	This is the first report of a rare genetic @DISEASE$ diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and @PHENOTYPICFEATURE$.	false
+c7afc163e441bfeff3d598ed84aee2510769ed54	The syndrome that is autosomal dominantly inherited and characterized by hypodontia, @PHENOTYPICFEATURE$, and normal hair is known as hypodontia-nail dysplasia syndrome, or @DISEASE$.	false
+f0593c8979a108027ef828351d6daf8a43edff9c	The syndrome that is autosomal dominantly inherited and characterized by hypodontia, @PHENOTYPICFEATURE$, and normal hair is known as @DISEASE$ syndrome, or tooth-and-nail syndrome.	false
+dc82a5d312ae820c24862d2b989bde613bce6536	Five addition additional cases of the @DISEASE$ are reported, including 2 with documented @PHENOTYPICFEATURE$.	false
+a052ab17c5c33709e9abef36794a22e64e0ba6f5	@DISEASE$ is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to @PHENOTYPICFEATURE$.	false
+77fe1f386fb49d0ef4d2cc57b8323ae5b3215ae4	The clinical, histopathologic, and molecular findings of this study should contribute to our understanding of @DISEASE$ and its relationship to the serrated @PHENOTYPICFEATURE$ pathway.	false
+1a709b01f7356dd1f46281cbedcf9347e7564f2e	Liposomal doxorubicin suppressed not only the widespread KS @PHENOTYPICFEATURE$, but also HHV-8 viremia resulting in decreased @DISEASE$ in this patient.	false
+01b70826a0dfcd14336c2210ae3fb312f64b960c	There is little to no correlation of @DISEASE$ with liver volume, tumor volume, or @PHENOTYPICFEATURE$-to-liver volume ratio.	false
+1c6745f36efad7f6bf0ad61011cc44247fdd007b	There is little to no correlation of @DISEASE$ with liver volume, @PHENOTYPICFEATURE$ volume, or tumor-to-liver volume ratio.	false
+5b7d554881a108dac2fb2536d8bc864230c1667b	The diagnosis of @DISEASE$ was made clinically and the @PHENOTYPICFEATURE$ was diagnosed as poorly differentiated adenocarcinoma of the lung.	false
+ec0cfcd1ebb1085bf31fcf683c31ce17b44caec6	n=73) have significantly larger shunt fractions than @PHENOTYPICFEATURE$ with little enhancement (@DISEASE$=8.3%(16.4%);	false
+29a2c8c12bff9457a1a2c1567eb2788cc7425b24	The overall rates of bladder neck @PHENOTYPICFEATURE$, de novo urethral stricture and residual/recurrent adenoma were 3.4% (10 cases), 2.1% (6) and 2.1% (6) with no statistically significant difference between vaporization with the KTP and @DISEASE$ lasers.	false
+fb7cd4cf4f3ce9ee6dbb8310a2cd5f824d09044a	Reactive @DISEASE$ is observed in patients with systemic infection, @PHENOTYPICFEATURE$ or auto-immune diseases.	false
+47e3552a7b0fc800d504f7a2479626c647a8168e	To the authors' knowledge, this is the first report of @DISEASE$ secondary to @PHENOTYPICFEATURE$ in a cat.	false
+ffa7b5e2ec0158fdff11a9a85c39e3d66eced152	They were divided into infection-associated @DISEASE$, @PHENOTYPICFEATURE$-associated HPS and rheumatological disease-associated HPS according to cause of diseases.	false
+675a88489c30ffdf4437a8ead798daf3781745a3	They were divided into infection-associated HPS, @PHENOTYPICFEATURE$-associated @DISEASE$ and rheumatological disease-associated HPS according to cause of diseases.	false
+98a0faf9d8be7b79b2d94d2d62298e6a7a6dcaad	They were divided into infection-associated HPS, @PHENOTYPICFEATURE$-associated HPS and rheumatological disease-associated @DISEASE$ according to cause of diseases.	false
+d1eaeb9a2a4c587f986fd47be267f8066cf26da4	With a hematoxylin-phloxin-saffron (@DISEASE$) staining two @PHENOTYPICFEATURE$ types, i.e. hemorrhagic and solid could be distinguished.	false
+c8b0e87fe99a4df0edcbbe128e18c3133e775595	CRX may be mutated in three forms of human @PHENOTYPICFEATURE$; Leber congenital amaurosis (LCA), cone-rod degeneration (@DISEASE$) and retinitis pigmentosa (RP).	false
+7ffa7ff05edc0a4fcbf1c67c1ba0929b8ea1454e	In the @DISEASE$ group, @PHENOTYPICFEATURE$ and hyperinsulinemia were induced accompanied by increasing plasma 3-nitrotyrosine (3-NT) levels, higher amounts of 3-NT and inducible nitric oxide synthase (iNOS) within pancreatic islets.	false
+6cb16f9b486d7cdba55da19455411c244e145dcd	We report the rare complication of acute retinopathy with @PHENOTYPICFEATURE$ following pancreatic head resection due to @DISEASE$.	false
+d03c5442e967d8f7b4029d20054c14d3e9df830a	@DISEASE$ is generally associated with continued @PHENOTYPICFEATURE$, parenchymal and ductal hypertension.	false
+7a806e8f8ea86ef42b618770761e55e0394517cc	Splenic rupture, an infrequent complication of acute or @DISEASE$, is responsible for @PHENOTYPICFEATURE$ and hemorrhagic shock.	false
+b95687ee89cd880a8415ed465b83773edf3d09fc	@DISEASE$ is characterised by severe abdominal neuropathic @PHENOTYPICFEATURE$, perineural inflammatory cell infiltrations and intrapancreatic neural growth.	false
+94fe284431eb5796e12b3f9a7ad8629390800588	We have applied this technique to ten patients with @DISEASE$, small ducts, and intractable @PHENOTYPICFEATURE$.	false
+c5b5e09c9e5ef4fb66a0f09f5e3cba8ecafc4d6a	Techniques and results of neurolysis for @DISEASE$ and pancreatic cancer @PHENOTYPICFEATURE$.	false
+37a7abc4ed9be71a9eab93498efbfb5b985d9cee	It is mainly indicated to treat pancreatic cancer @PHENOTYPICFEATURE$, but also to relieve pain as a result of @DISEASE$.	false
+7babb1afc0e2a11ca68afde02dbe784ae24fbf50	Patients with @DISEASE$ usually have a long and debilitating history of disease with frequent hospital admissions, episodes of intractable @PHENOTYPICFEATURE$ and multiple interventions.	false
+d4712823602cbb3582048d2c34add882e0b6ad18	Pseudocysts can become painful, especially with @DISEASE$, and can cause early satiety and @PHENOTYPICFEATURE$ when their size affects the stomach and bowel.	false
+f826d40159e30f50bdc85a28f576fdca37bdc7cb	They usually present with a long history of @DISEASE$-like symptoms, which are often associated with @PHENOTYPICFEATURE$, diarrhea, and malabsorption.	false
+931d93310bad5448a9fe3534e829421773b456c2	@DISEASE$ frequently is found associated nonspecifically with tracheoesophageal fistula, cleft lip and @PHENOTYPICFEATURE$, and congenital heart defects.	false
+933f8a24fcffc2203fe6255e8210817514548fcb	Defects in lysosomal acidification are attributed to many diseases like @PHENOTYPICFEATURE$, Parkinson's, Alzheimer's, and @DISEASE$.	false
+e62d40429681f3cb0fce758c99a770e5cbdf21ba	@PHENOTYPICFEATURE$ and pubertal delay in @DISEASE$.	false
+bdb0e99312990e84529e626962cf9711b1991ea9	Based on these data, @PHENOTYPICFEATURE$ should not be considered benign to patients with @DISEASE$.	false
+bba6cb157f1c3bd77be44590092974ac0710dc51	Spontaneous @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+9596544fac5bbdae35f0839a272563ce293c4bf4	A 20-year-old male patient with @DISEASE$ (CF) is described, who acutely developed @PHENOTYPICFEATURE$ concurrently with giardiasis.	false
+42c3c399d208b42dc17931bd0339bfe0e1377ec2	Optic neuritis and @PHENOTYPICFEATURE$ following chloramphenicol in @DISEASE$ patients.	false
+cc85028745fc7452fdd2cd74ef77d21ec8c02d0c	We identified 18 trials including assessment of QOL (4 Asthma, 4 Rhinitis, 2 Dermatitis, and single studies of Eczema, @DISEASE$, Otis media, Amblyopia, Diabetes, Obesity associated with a brain tumour, Idiopathic @PHENOTYPICFEATURE$, and Congenital agranulocytosis).	false
+fdf4e8e9e1d92b4cf6c35175f529a7c73db716b7	We identified 18 trials including assessment of QOL (4 Asthma, 4 Rhinitis, 2 Dermatitis, and single studies of Eczema, @DISEASE$, Otis media, Amblyopia, Diabetes, Obesity associated with a brain tumour, Idiopathic short stature, and @PHENOTYPICFEATURE$).	false
+20dab9cc77b830dbc48ef0c108c63848a16a8d25	@PHENOTYPICFEATURE$ and pubertal delay in male adolescents with @DISEASE$.	false
+d04c5744d21da9246694bea9fe410c000977b1e1	@PHENOTYPICFEATURE$ and malnutrition in @DISEASE$.	false
+d04c5744d21da9246694bea9fe410c000977b1e1	@PHENOTYPICFEATURE$ and malnutrition in @DISEASE$.	false
+6d2f6a70f299f9425ef3ac07a3b12c8daaec3553	@DISEASE$ occurred in 23% of the younger group, but none occurred in the older group, where Alzheimer disease, heart disease, and @PHENOTYPICFEATURE$ (57%) were present.	false
+b0c7601e143d261fecdf27c5a4702ea6a64a19ec	The increase or hyperactivity of suppressor T cells plays an important role in the development of @DISEASE$ and most @PHENOTYPICFEATURE$.	false
+3446da5f0975e29024eeaf0a859fec52e5888539	[Immunosuppression by retroviruses in @PHENOTYPICFEATURE$ and @DISEASE$].	false
+509b3cff438a27407efd3b3b6e4e0135a5b3d6eb	It is well documented that despite global abnormalities of the immune system in AIDS and other @DISEASE$ or in immunosuppressed patients the incidence of only a few kinds of @PHENOTYPICFEATURE$ increases and even in the development of tumours in question the degree of immunosuppression seems not to be a critical factor.	false
+470f1fb7e0fd6510dd2eb741be989c5f4352bb24	It is well documented that despite global abnormalities of the immune system in AIDS and other @DISEASE$ or in immunosuppressed patients the incidence of only a few kinds of tumour increases and even in the development of @PHENOTYPICFEATURE$ in question the degree of immunosuppression seems not to be a critical factor.	false
+c1e2dbe3ce52033974940c9aa83ccdfe2659a252	It is well documented that despite global abnormalities of the immune system in AIDS and other @DISEASE$ or in immunosuppressed patients, the incidence of only a few kinds of tumor increases, and that the degree of immunosuppression seems not to be a critical factor in the development of even these @PHENOTYPICFEATURE$.	false
+86a5f1e8e8f083d17f36f1039c803bc5cb6fb1a5	It is well documented that despite global abnormalities of the immune system in AIDS and other @DISEASE$ or in immunosuppressed patients, the incidence of only a few kinds of @PHENOTYPICFEATURE$ increases, and that the degree of immunosuppression seems not to be a critical factor in the development of even these tumors.	false
+08aba9e7e2c94dadb7cd6cd99462a3885be8ff4a	Thymic polypeptides have been widely used clinically for the treatment of @PHENOTYPICFEATURE$, infectious diseases and @DISEASE$.	false
+f6e5a827155b72f792e00dd225359d9b6d190dd7	Nocturnal haemodialysis (@DISEASE$), a novel mode of renal replacement therapy, may be more effective than conventional haemodialysis in reducing intravascular volume or in removing uraemic toxins with vasoconstrictor or myocardial depressant actions, and may, therefore, improve the left ventricular (LV) systolic function of patients with coexisting cardiac and @PHENOTYPICFEATURE$.	false
+73a668c4333a1e938e99e48d4bdfb67078ee5e4c	An androgen-independent spindle-shaped cell @PHENOTYPICFEATURE$ (@DISEASE$) formed from androgen-dependent medullary Shionogi carcinoma (SC115) in DS mice was examined.	false
+75f5a29e90e1358f2877480910a7e1cfc06c4743	Neonatal hypernatremia dehydration (@DISEASE$) is a dangerous condition in neonates, which is accompanied by acute complications (@PHENOTYPICFEATURE$, cerebral edema, and cerebral hemorrhage) and chronic complications (developmental delay).	false
+3f9aa3bb12d449560d15e657baa3b852cb85747b	The androgen-independency of this @PHENOTYPICFEATURE$ may be attributed to a rapid dissociation of the androgen-receptor complexes from @DISEASE$ nuclei.	false
+1d54418b5e34300d825a34b4149bf1ca7ecd0567	About 350 castrated male DS mice given testosterone propionate (TP, 100 micrograms/mouse/day) were grafted with androgen-dependent SC115 @PHENOTYPICFEATURE$ or androgen-independent tumors (@DISEASE$ with positive receptor; NHF with negative receptor).	false
+7760d8a0be4d5b8f5608d9ce5dc32eed642da15f	About 350 castrated male DS mice given testosterone propionate (TP, 100 micrograms/mouse/day) were grafted with androgen-dependent SC115 tumor or androgen-independent @PHENOTYPICFEATURE$ (@DISEASE$ with positive receptor; NHF with negative receptor).	false
+49747149a9d021cc046d67a5f5dfe11100ea8845	The independent preoperative predictors of @DISEASE$ were being female, older age, higher BMI, low serum albumin, >10% weight loss, ASA class III/IV, and being diagnosed with a bile duct/ampullary @PHENOTYPICFEATURE$ or neuroendocrine tumor.	false
+116537d7f5da1e33862ed3438590dbe7c41237dd	Although @DISEASE$ tumors transplanted in female or male mice exhibited almost the same growth speed, the cytosol of this tumor was found to contain an androgen receptor which was similar in binding characteristics to SC115 @PHENOTYPICFEATURE$.	false
+1dbb9e31275e251dc04a22baab2a773977f9954f	Although @DISEASE$ @PHENOTYPICFEATURE$ transplanted in female or male mice exhibited almost the same growth speed, the cytosol of this tumor was found to contain an androgen receptor which was similar in binding characteristics to SC115 tumor.	false
+f335cb9f4a6bede2f071543c7e229f48cdc29fa0	Although @DISEASE$ tumors transplanted in female or male mice exhibited almost the same growth speed, the cytosol of this @PHENOTYPICFEATURE$ was found to contain an androgen receptor which was similar in binding characteristics to SC115 tumor.	false
+2dce01408b72c82f555f2ed10ee1556e4ce1af3a	The cumulative mortalities in mice with androgen-independent @DISEASE$ and NHF @PHENOTYPICFEATURE$ in the immediate androgen removal groups (97 and 91%, respectively) were similar to those in the androgen-injected groups (90 and 95%, respectively).	false
+d98ff328fd9201a5d7cf645f8bc0f4ef80cb383c	Because of conflicting published reports of either impaired or normal MoDC function in CHC infection, we re-examined the ability of MoDCs from CHC and normal healthy donors (@DISEASE$) to mature to an inflammatory stimulus [@PHENOTYPICFEATURE$ necrosis factor (TNF)-alpha] and their subsequent functional capabilities.	false
+15c52b783f5fbee334077432b00368b0b21a045e	Unknown syndrome: congenital heart disease, @PHENOTYPICFEATURE$, @DISEASE$, and craniosynostosis.	false
+395c586fa4721221a9254cf09d2c718479d560cb	Two previous case reports described two sibs affected with both @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c598779a61bb89c8962fb1494849f9e356533278	It is characterized by palmoplantar keratoderma, eyelid apocrine hydrocystomas, @DISEASE$, hypotrichosis and @PHENOTYPICFEATURE$.	false
+8620cd45b1feeb6c9b9175d184672d84b8889005	We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, @DISEASE$, @PHENOTYPICFEATURE$, and brittle hair.	false
+e76d4c9bd0e2e510b309f23a6a47e7275c43b8b5	[A case of aniridia, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+870edf192eabe5e416afa2d43308fd5468d40f7f	Congenital profound @PHENOTYPICFEATURE$ and @DISEASE$: a new syndrome.	false
+dc7ed021c47ff005dc17689bc77059dba9cd7c4d	The disease is characterized by @DISEASE$, hypotrichosis, palmoplantar keratoderma, @PHENOTYPICFEATURE$ and eyelid hydrocystomas.	false
+7ca27bce9d8efcff67c7e2fedf7c49192bfa79fc	The patient presented with bilateral light perception visual acuity, exotropia, brunescent @PHENOTYPICFEATURE$ hindering fundus examination and @DISEASE$.	false
+840b53a0a54c8960bfcd42a397fc8ff35d81f7d2	Autosomal recessive @PHENOTYPICFEATURE$, dizziness, and @DISEASE$.	false
+75b1465797d79dd019c43a2ff991ab093c52b418	Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, @PHENOTYPICFEATURE$, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, @DISEASE$, and malocclusion.	false
+45c540b0239524182902f7df36cf31f0262a6232	We report five females with septo-optic dysplasia, @PHENOTYPICFEATURE$, and multiple pituitary tropic hormone deficiencies: all were growth hormone and @DISEASE$; two had diabetes insipidus; one had sexual precocity, and one had early pubertal maturation, whereas three were prepubertal and responded to administration of synthetic gonadotropin-releasing hormone.	false
+0c310cfbe8fde1a4d6f2fe0ac5c771327eba5614	High-throughput sequencing (@DISEASE$) is currently used in routine practice for the diagnosis and follow-up of patients with @PHENOTYPICFEATURE$.	false
+f76922bbe1388ab37162f44a1b1a71888479b2c0	One dog developed signs of an @DISEASE$ reaction, characterized by @PHENOTYPICFEATURE$ and facial edema, during administration of human albumin solution.	false
+d12a22f42f4bfb5244592404c3ba89933eec40ba	@DISEASE$ mechanisms may give rise to the nausea, vomiting, @PHENOTYPICFEATURE$, and diarrhea experienced by these patients.	false
+111c9dfaa5d102fb0eaea2c8e85fa9584e279684	@DISEASE$ mechanisms may give rise to the nausea, @PHENOTYPICFEATURE$, abdominal pain, and diarrhea experienced by these patients.	false
+dd0009817b08e7e42b47ee3812e21fc3f2495aac	Two severe complications occurred: transient bilateral @PHENOTYPICFEATURE$ and cauda equina syndrome from @DISEASE$.	false
+c50145ac9aa8f4bc8f47e0be864263aa1f4b3786	Goitre and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+c5591dc72cd06b783f54687f41bd5a8d7552f824	[@DISEASE$ as a cause of familial @PHENOTYPICFEATURE$].	false
+f598fda11e59e3be906fa8286db3e0da71321dac	[@DISEASE$ and nonsyndromic related @PHENOTYPICFEATURE$: a same entity?].	false
+e69790e36666a96f97ef8077713aae80d9de10cb	Profound @PHENOTYPICFEATURE$ and hypochloremic metabolic alkalosis during thiazide therapy in a child with @DISEASE$.	false
+8400a000a4ba238cba46abb01464e89b0e2c2dee	@DISEASE$ (hereditary goiter and @PHENOTYPICFEATURE$).	false
+e65352f7942f2a74c058218b38d87e87b90ac0a9	@DISEASE$ is a common autosomal recessive disorder causing @PHENOTYPICFEATURE$.	false
+24e8ffb8640775651a2f1a254f426e1ba069fe0d	After presenting the case of a Japanese pedigree with Pendred syndrome we discuss whether @PHENOTYPICFEATURE$ such as @DISEASE$ can be avoided.	false
+3f9e19de5da911f0316e8c363e0ddaefa7cc8892	After presenting the case of a Japanese pedigree with @DISEASE$ we discuss whether @PHENOTYPICFEATURE$ such as Pendred syndrome can be avoided.	false
+a91d78f27e144a07bb3e7ccee722cd8526113446	@DISEASE$ is the most common form of syndromic @PHENOTYPICFEATURE$.	false
+27766e18dd601cd7927568e8942326760c8740aa	[Genetic @PHENOTYPICFEATURE$ and @DISEASE$].	false
+302eacd8a1c1c236455811dd5e48932f42326def	@DISEASE$ is the most frequent @PHENOTYPICFEATURE$ syndrome.	false
+1d27634990de2d19135c1c50a551ef94baea1882	In @DISEASE$ and NERD patients vs. ERD patients the following abnormalities were observed more frequently: autonomic and functional somatic symptoms (apart from gastrointestinal tract (GIT) complaints) (p < 0.01), @PHENOTYPICFEATURE$ (p < 0.01), fatigue (p < 0.01), eating behavior disorders (DEBQ) (p < 0.05), maternal overprotection in childhood (p < 0.05), psychophysioligical GIT reaction in childhood (p < 0.05), higher levels of state and trait anxiety (p < 0.05), and hypochondria (p < 0.05).	false
+5b52f059909c080febe467133ce0ec4aa981e0e0	We present a case of a 5-year-old girl with @DISEASE$ displaying classic @PHENOTYPICFEATURE$ along with proptosis and papilledema.	false
+f8ac281521fb044d0260ba7a1dda84cea4fe5d95	Patients with @DISEASE$ frequently develop functional problems including raised intracranial pressure, ocular dysfunction, obstructive sleep apnoeas and @PHENOTYPICFEATURE$.	false
+8be07214297b6eb1eacf4f00208fbaf81369a6d7	@DISEASE$, @PHENOTYPICFEATURE$, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome.	false
+b90366e1a2c441ad07ee0a9c7d8468755f527743	Despite long axial lengths, shallow anterior chambers with occluded angles are possible in @DISEASE$ and are most likely caused by FGFR2-related @PHENOTYPICFEATURE$.	false
+86af50b4909b14db8ad322da7059561900e52091	@DISEASE$ is characterized by cranial and @PHENOTYPICFEATURE$ and exophtalmos.	false
+f5b81f00f7de8668bfc27b463f19eabfb748b21f	Zygomatic rotation-advancement proved a safe, effective, stable, and predictable treatment for isolated @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+1185b220a5d6b74007789df9bbd3e6b1e48788a1	A 34-year-old woman with @DISEASE$ complained of exorbitism and @PHENOTYPICFEATURE$.	false
+47e78a0f5bf1328e64406903c676fa0f4093b479	@DISEASE$, patent ductus arteriosus, @PHENOTYPICFEATURE$, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?	false
+71109f0086af9c3d69af176e46c0c58fb0d54fd6	We reported a three-generation family with @DISEASE$; the proband showed extremely severe @PHENOTYPICFEATURE$.	false
+a95d8838cfc824b7557916d6b298a5142bb86106	@DISEASE$ (Crouzon's disease) associated with @PHENOTYPICFEATURE$ (Pyle's disease) in the same subject.	false
+db2f8406d9cecae8bdfc84971a680d482741c2b3	[@DISEASE$ and heredo-@PHENOTYPICFEATURE$].	false
+56708c39d98da974699d89af91169cbfdb1589e0	[Hereditary association of tapeto-retinal dystrophy, @DISEASE$, with spinal-cerebellar Friedreich's @PHENOTYPICFEATURE$].	false
+646716318ba0da7f3fbcefd3fdcfec4dc1f65f94	@PHENOTYPICFEATURE$ is a common complication of @DISEASE$.	false
+39e7eb37668776c16bbdac9b7b21d9d727b17ffd	High clinical index of suspicion for the association of CMV infection with IBD should be directed towards female @DISEASE$ patients presenting with @PHENOTYPICFEATURE$, lymphadenopathy, splenomegaly, leucopenia, and mild hepatitis.	false
+dec84fb60f9a0b6409be3c50950742acc2ff86cc	High clinical index of suspicion for the association of CMV infection with @DISEASE$ should be directed towards female IBD patients presenting with @PHENOTYPICFEATURE$, lymphadenopathy, splenomegaly, leucopenia, and mild hepatitis.	false
+3804cd6fc551c8840e24e6150eacfffc1b9c1ced	In a small percentage of patients, diseases like primary hyperparathyroidism, tubular renal @PHENOTYPICFEATURE$, @DISEASE$ or bariatric surgery have a fairly well studied physiopathological link with kidney stones.	false
+189c23a9bcc8ea771e9bf9127a6c35728559da80	To evaluate circulating IL9 in @DISEASE$ and disease-associated anemia/@PHENOTYPICFEATURE$ and assess its potential as a mucosal healing marker.	false
+e148700f2d53d802194b3b5bec81e8908b4a9f77	Prolonged initial admission, @PHENOTYPICFEATURE$, younger age, @DISEASE$ and chronic pulmonary disease are associated with recurrences at different phases after acute myocarditis.	false
+bc979f6432d0b50eb23c3a0aece203aff1b27cd8	@PHENOTYPICFEATURE$ were more frequent in patients with IBD and with fecal calprotectin level above the norm than in all patients with @DISEASE$.	false
+2b6639b5089a5132e37666855fea39085301cace	@PHENOTYPICFEATURE$ were more frequent in patients with @DISEASE$ and with fecal calprotectin level above the norm than in all patients with IBD.	false
+495366866c36784e96777d3946c0b966b58b7386	Two pathogenetic mechanisms for epithelial misplacement are proposed: (1) the effects of mucosal inflammation and repair; and (2) @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e3d016e96266203f4e16c50993054bc896763fd5	These diseases include cancer @PHENOTYPICFEATURE$, chronic heart failure, chronic renal failure, chemotherapy, arthritis, gastroparesis and @DISEASE$.	false
+666dc1558f6904832cbfcfb6174e1ffc4a609df8	The principal clinical indications for [99mTc]HMPAO-leukocytes include @DISEASE$ (IBD), osteomyelitis, soft tissue sepsis, and, to a lesser extent, occult @PHENOTYPICFEATURE$.	false
+380fa787bb21662c34d35a21383b0cb98e88680d	The principal clinical indications for [99mTc]HMPAO-leukocytes include inflammatory bowel disease (@DISEASE$), osteomyelitis, soft tissue sepsis, and, to a lesser extent, occult @PHENOTYPICFEATURE$.	false
+3865ccb82717a351184c5855162cd5c8f02b0310	Hematochezia is more common in @DISEASE$ patients and @PHENOTYPICFEATURE$/CMV antigenemia is more common in patients without IBD.	false
+0233ec265161bb275f73e46f20d8ebbd3f55891c	Case 2 shows loss of sensation, @PHENOTYPICFEATURE$, and deafness, clinically similar to patients with @DISEASE$.	false
+2cde80670b0a4cd03ee6cd43a6939bfaa743da2c	Patients with @DISEASE$ (HSAN III) exhibit marked ataxia, including @PHENOTYPICFEATURE$.	false
+4e248be3b63d4977ad6d37f8305d00e18589b006	Patients with @DISEASE$ (HSAN III) exhibit marked @PHENOTYPICFEATURE$, including gait disturbances.	false
+153c2aa795f55d6bb90e4344515b8b2fcad023ec	Docetaxel at 70 mg/m2 demonstrated effectiveness as a treatment of both platinum-sensitive and platinum-refractory @DISEASE$ patients, with a low incidence of severe hypersensitivity reactions and @PHENOTYPICFEATURE$.	false
+471a279e0a3b9c5b19d72e6c26d4d76a40c53a08	[Case of @PHENOTYPICFEATURE$ in lower extremity after surgery of @DISEASE$].	false
+2fee443dfd34519305cfcf0745492cb424e3d549	Others had locally advanced prostate cancer (n=1), locally advanced cervical cancer (n=3), @DISEASE$ (n=1) and genitourinary tuberculosis with small capacity bladder along with a large @PHENOTYPICFEATURE$ (n=1).	false
+015839c66e1b5659c578cf07adc5acd096fffd75	Lower extremity @PHENOTYPICFEATURE$ in patients with early @DISEASE$.	false
+2d8c91dd7c0e5b90c219c74e6a52fa4661a7bb11	Lower extremity @PHENOTYPICFEATURE$ at initial diagnosis is a strong prognostic indicator of @DISEASE$ patient.	false
+a8be26a63527edd4fd88d195b385ff9c90e56e00	The objective of this study was to investigate clinical manifestations of lower extremity @PHENOTYPICFEATURE$ (LEE) in early @DISEASE$.	false
+25b5678d32b96a53ef94d5785b12eef5b2577c2b	Thus, we conclude that MN/CA9 protein expression could serve as a valuable adjunct to the cytological and histological diagnosis of benign @PHENOTYPICFEATURE$ versus cystic RCC, adenoma versus RCC, and @DISEASE$ versus granular cell RCC.	false
+5c6e54a28184c5be7012b48f8b3432db7bb8b6ab	Renal oncocytosis and multiple papillary adenomas with @DISEASE$ as dominant nodule coexisting with papillary carcinoma in a patient with diabetic glomerulosclerosis, acquired @PHENOTYPICFEATURE$ disease and B cell lymphoma.	false
+50804ee9afc8639b742b861aea30fe973c879292	A total of 117 TI patients were divided into two major groups, namely heterozygous beta-thalassemia (n = 20) in which 14 were characterized as having a mild TI with the Hb levels of 68-95 g/L except for five co-inherited alphaalphaalphaanti-3.7 triplication and one carried a dominant @PHENOTYPICFEATURE$; and @DISEASE$ homozygotes or compound heterozygotes for beta-thalassemia and other beta-globin defects in which the beta+-thalassemia mutation was the most common (49/97), hemoglobin E (HbE) variants was second (27/97), and deletional hereditary persistence of fetal hemoglobin (HPFH) or deltabeta-thalassemia was third (11/97).	false
+a0ae864a429cbd2f223c9b9e01e942ed1f76dc90	A total of 117 TI patients were divided into two major groups, namely heterozygous beta-thalassemia (n = 20) in which 14 were characterized as having a mild TI with the Hb levels of 68-95 g/L except for five co-inherited alphaalphaalphaanti-3.7 triplication and one carried a dominant @PHENOTYPICFEATURE$; and beta-thalassemia homozygotes or compound heterozygotes for @DISEASE$ and other beta-globin defects in which the beta+-thalassemia mutation was the most common (49/97), hemoglobin E (HbE) variants was second (27/97), and deletional hereditary persistence of fetal hemoglobin (HPFH) or deltabeta-thalassemia was third (11/97).	false
+b575cb65c09244aa4d0346d86383caecb7fd079b	Suicidal erythrocyte death or eryptosis contributes to or even accounts for anemia in a wide variety of clinical conditions, such as iron deficiency, dehydration, hyperphosphatemia, vitamin D excess, chronic kidney disease (CKD), hemolytic-uremic syndrome, diabetes, hepatic failure, malignancy, arteriitis, sepsis, @PHENOTYPICFEATURE$, malaria, sickle-cell disease, @DISEASE$, Hb-C and G6PD-deficiency, Wilsons disease, as well as advanced age.	false
+7ceeb465c8c4f809ff2a6e63efefc03974b1d8cc	Extra-medullary hematopoiesis causing bilateral @PHENOTYPICFEATURE$ in @DISEASE$/Hb E disease.	false
+d1145a38a5937c42acc06a1be4388cd725b72424	She presented with @PHENOTYPICFEATURE$ and hemolysis (she had heterozygotic @DISEASE$) after a six month history of diarrhea.	false
+0ba77ad58b711ccc72558764840b4f2db8ba317d	The prevalence of @PHENOTYPICFEATURE$ also did not differ significantly between those with beta-thalassemia major and those with HbE-@DISEASE$ (p = 0.32).	false
+59c9771a4edcd863d1e70c5f327fbe2733a0f12a	A young primigravida, with sickle cell (Hb SS) disease and @DISEASE$ presented at 37 weeks of gestation with @PHENOTYPICFEATURE$, chills, and lower abdominal pain in the presence of intact fetal membranes, 10 days after recurrent marsupialization of a Bartholin abscess.	false
+de7f7c7c0117d0ff3dfe3d0ad9c76121aa1f89a2	Mice homozygous for a spontaneous @PHENOTYPICFEATURE$, in which the beta-major globin gene is deleted, have clinical symptoms of @DISEASE$.	false
+a58142f43682dbbf2dc0bcac302f92bb2b40fc03	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by @DISEASE$.	false
+8acd8cebc1ef75991d5d20ccbc88273109cd85ed	Spondylometaphyseal dysplasia with @DISEASE$ is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+b4230b35ad2ee2e6b3c8c9b3f37cd3e90a638281	Within the retinal dystrophies we saw @DISEASE$ in 46 (33 %) patients, Stargardt's disease in 38 (27 %), retinitis pigmentosa in 37 (26 %), @PHENOTYPICFEATURE$ in 15 (11 %) and achromatopsia in 5 (3 %) patients.	false
+315292cf65a14ac412f9d03f5553566b2cb57a51	Five patients were diagnosed with congenital sensory defect nystagmus including one with @PHENOTYPICFEATURE$, three with congenital cone dysfunction, and one with @DISEASE$.	false
+c876e039c68d7b19732b915b6a0f85e05b1fdefd	Five children had other ocular pathology (@PHENOTYPICFEATURE$, n?=?4; @DISEASE$, n?=?1).	false
+af3e0a2373d1d59352565b14675797bd7990984e	Thirty-three primary and metastatic @DISEASE$/RCLS @PHENOTYPICFEATURE$ in 15 patients were treated with radiation therapy.	false
+a7c124dfe73682d8d23dec51cd0c500376ec2610	In addition, FLT1, PGF, VEGFA and VEGFB expression was measured in @DISEASE$/RCLS cell lines, MLS/RCLS @PHENOTYPICFEATURE$ and in normal adiopocytes.	false
+d0c20c032d9c69d2eb2925d7a99f69f9933ed963	In addition, FLT1, PGF, VEGFA and VEGFB expression was measured in MLS/RCLS cell lines, @DISEASE$/RCLS @PHENOTYPICFEATURE$ and in normal adiopocytes.	false
+7c695b4cc725f37d92244c449f9b64616228e268	The goal of surgery in the treatment of @DISEASE$ is to obtain @PHENOTYPICFEATURE$-free surgical margins.	false
+7c72e16fe69ff58bf6d71425da163174c45a0f92	Although @PHENOTYPICFEATURE$ are initially radio- and chemosensitive, the management of inoperable or metastatic @DISEASE$ can be challenging.	false
+4c0274f5aeae1c14d112df5e38ec631d227f52e7	Among the ten groups, the tumor growth rate was lower in MLC and MLS groups, and the difference between @PHENOTYPICFEATURE$ treated with @DISEASE$ emulsion (ratio 1:1/2) and ML suspension was significant (p = 0.02).	false
+c4a5019ed4473ddfc48ce92c4206e3fc3ecacfe9	Among the ten groups, the @PHENOTYPICFEATURE$ growth rate was lower in MLC and MLS groups, and the difference between tumor treated with @DISEASE$ emulsion (ratio 1:1/2) and ML suspension was significant (p = 0.02).	false
+6f0e19654d8131cb98f9458457575ca01b609812	Among the ten groups, the tumor growth rate was lower in MLC and @DISEASE$ groups, and the difference between @PHENOTYPICFEATURE$ treated with MLS emulsion (ratio 1:1/2) and ML suspension was significant (p = 0.02).	false
+54e8b2839924e1acc2eaa90a6ad0654d89222370	Among the ten groups, the @PHENOTYPICFEATURE$ growth rate was lower in MLC and @DISEASE$ groups, and the difference between tumor treated with MLS emulsion (ratio 1:1/2) and ML suspension was significant (p = 0.02).	false
+48981f027d7324bad70252f389649ea969cae36b	Myxoid liposarcoma (@DISEASE$) shows extensive intratumoural heterogeneity with distinct subpopulations of @PHENOTYPICFEATURE$ cells.	false
+98ca0a04a841f5101fad855097c268cdc42cbb57	@DISEASE$ human epithelial ovarian carcinoma @PHENOTYPICFEATURE$.	false
+3ffb4fab5d8c9ef20729ce3e39613a529ffef5d8	They were highly recurrent in MLS (29/39; 74%) and were in the present @DISEASE$ series not associated with the phenotype (myxoid vs. round cell variant), @PHENOTYPICFEATURE$ grade, tumor site and patients' median age or gender.	false
+32264df05f7ff39d8781da8b8306214838c0906c	They were highly recurrent in @DISEASE$ (29/39; 74%) and were in the present MLS series not associated with the phenotype (myxoid vs. round cell variant), tumor grade, @PHENOTYPICFEATURE$ site and patients' median age or gender.	false
+5c325ef284a6d8eebbcebd3f8a249cb0d2c7cca4	They were highly recurrent in @DISEASE$ (29/39; 74%) and were in the present MLS series not associated with the phenotype (myxoid vs. round cell variant), @PHENOTYPICFEATURE$ grade, tumor site and patients' median age or gender.	false
+8b1990484c81b86a80f8f51de666bdf3b49884ce	They were highly recurrent in MLS (29/39; 74%) and were in the present @DISEASE$ series not associated with the phenotype (myxoid vs. round cell variant), tumor grade, @PHENOTYPICFEATURE$ site and patients' median age or gender.	false
+6d5cf79a862b9f5f4ffa795c451f33204bb15071	In 42 patients, the histology could be reviewed, and @PHENOTYPICFEATURE$ were classified as @DISEASE$, TLS, or RCLS.	false
+96939083842ca154a47a0b0dc4e979de2ddfc61b	Repression of MDA-7/IL-24 expression by TLS-CHOP is required for MLS @PHENOTYPICFEATURE$ growth, and TLS-CHOP may become a promising therapeutic target for @DISEASE$ treatment.	false
+d74bfc83bd8265b09dcdca3537d5f291dc397f7e	Repression of MDA-7/IL-24 expression by TLS-CHOP is required for @DISEASE$ @PHENOTYPICFEATURE$ growth, and TLS-CHOP may become a promising therapeutic target for MLS treatment.	false
+ad533d754d1ec20d75ece277b452934309a77bb4	Two profoundly hard-of-hearing and @PHENOTYPICFEATURE$ patients were examined by non-invasive extracranial magnetic stimulation (@DISEASE$) in an effort to determine whether EMS could evoke auditory sensations.	false
+7a69b0e0010b36c7ed79686e9289a78c5a21c5ad	Two profoundly hard-of-hearing and @PHENOTYPICFEATURE$ patients were examined by non-invasive extracranial magnetic stimulation (EMS) in an effort to determine whether @DISEASE$ could evoke auditory sensations.	false
+13477a9a954ad0757f0b7c0c8aeef7c5e3a029d8	This investigation evaluated training responses to prolonged electrical muscle stimulation (@DISEASE$) in patients with stable @PHENOTYPICFEATURE$.	false
+adfd5e913088784285eae7f22daa7c98d50ae01b	Pathological @PHENOTYPICFEATURE$, insulin resistance and predisposition toward laminitis are associated with Equine Metabolic Syndrome (@DISEASE$).	false
+ffa66f8e84f27647497527f529325c91eba3f062	We performed a cohort investigation of persons >=18years who suffered non-traumatic OHCA and presented with @PHENOTYPICFEATURE$ between January 1, 2007 and December 31, 2013 in a metropolitan emergency medical service (@DISEASE$) system.	false
+3e005e716cb31fc171de989e833b445cbb95865c	Hyper-CK-@DISEASE$ was incidentally noted while managing a patient, aged nine, with mental retardation, epilepsy and mild @PHENOTYPICFEATURE$.	false
+dee999fc6a77407b2069fe4d2cc246fa043dca53	Adjustments were made for patients' age, sex, activities of daily living before the cardiac arrest, year of @PHENOTYPICFEATURE$, location, presence or absence of witnesses, etiology of cardiac arrest, and the time from @DISEASE$ contact with the patient to patient's arrival at the hospital.	false
+2c9313b1e515987d925c4566c8550a14744a1eab	Adjustments were made for patients' age, sex, activities of daily living before the cardiac arrest, year of cardiac arrest, location, presence or absence of witnesses, etiology of @PHENOTYPICFEATURE$, and the time from @DISEASE$ contact with the patient to patient's arrival at the hospital.	false
+3810a0edd0e2a8b3dc47eae9e614a1bf4cd33e15	Electrical myostimulation (@DISEASE$) of skeletal muscles is a new method to increase exercise capacity in patients with @PHENOTYPICFEATURE$.	false
+62e31def57e620b8a3eddaad2ec0007dfb23532e	These findings are relevant to the association between @PHENOTYPICFEATURE$ and laminitis in horses with @DISEASE$.	false
+002fd1dd2ff4c95c9367ecd0374699084e120804	Electrical myostimulation (@DISEASE$) has recently been proposed as an interesting rehabilitation tool in patients with @PHENOTYPICFEATURE$ (CHF).	false
+f5458d6e2bbc0f37e2b034cd946dafc47bce1d5a	However, the long-term survival rate (14/105) of @PHENOTYPICFEATURE$ remained low because of excessive delays in emergency medical service (@DISEASE$) access and in early ACLS.	false
+99499402540996c254a5e9928c711c2c3b81b242	Mocha (mh), a mouse model for @DISEASE$ (HPS), is characterized by platelet storage pool deficiency, pigment dilution, and @PHENOTYPICFEATURE$ as well as neurological abnormalities.	false
+add9883f0e75f78fca4c329314ca4bc0b0a3c19d	Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (@DISEASE$), is characterized by platelet storage pool deficiency, pigment dilution, and @PHENOTYPICFEATURE$ as well as neurological abnormalities.	false
+ff0bb4734990525f9e782954dd128e12907b5f32	A 15-year-old male of Puerto Rico ancestry with history of @DISEASE$, hypertension (HTN), asthma, @PHENOTYPICFEATURE$, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without edema.	false
+2598fa910ed9c3a57a00a98ee3c839b3e9bfdeef	A comparison of the STH level in the blood and the degree of obesity of the @DISEASE$ patients showed a clear decrease of the growth hormone in Stage IV @PHENOTYPICFEATURE$.	false
+19b8584f6bda7824a5c8bdef65cae034251e896b	A comparison of the STH level in the blood and the degree of @PHENOTYPICFEATURE$ of the @DISEASE$ patients showed a clear decrease of the growth hormone in Stage IV obesity.	false
+0908a655a1a5625f1085e93b44f6a617021a6f0c	Although these findings need to be confirmed, the @DISEASE$ is ready to be used in studies of interventions for @PHENOTYPICFEATURE$.	false
+4dc539799cfe5bc20e9ddc83f1e1e7c16ea7d9da	Taken together, we suggest that @DISEASE$ could be a therapeutic target for @PHENOTYPICFEATURE$-linked insulin resistance.	false
+f39da8793c83abc7ee15ff3fd2bb9e9833eb8843	We may conclude that the unconjugated hyperbilirubinaemia observed in some patients with @DISEASE$ is not associated with @PHENOTYPICFEATURE$ of bacteria, changes in glucuronidase levels, pH, electrolytes or biliary obstruction.	false
+7fa3d8d7b578f1c7b1a778d47c6790690d46b291	@DISEASE$ would help to combat the global burden of childhood @PHENOTYPICFEATURE$ by promoting healthy eating behaviours and encouraging higher levels of physical activity.	false
+24ff5eff8724d207eeedc680ae9ac7c170c2c568	However, the role of @DISEASE$ in the development of insulin resistance in skeletal muscle under @PHENOTYPICFEATURE$ remains unclear.	false
+8287447b85645f8352f35b7f17515921ba0ac855	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (@DISEASE$) and HSP (hereditary spastic paraplegia).	false
+850b093d5e9e388226a69c3efac1d8959e450491	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, @DISEASE$ (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+47308c6ab76ebe93202f6f131093e44db10d8ec3	To describe the process of capacity building of an elementary school in Mexico City to promote healthy diet, physical activity and @PHENOTYPICFEATURE$ preventive measures, within the Health Promoting School (@DISEASE$) initiative, underpinned by a human functioning approach.	false
+7f5084248e3d193010e2e66a797af6cf5657611e	Five children, three girls and two boys, were treated for precocious puberty secondary to @DISEASE$ by resection of the @PHENOTYPICFEATURE$.	false
+ae8384b03a64fe42eaced6641aa62711353ee1a2	These findings suggest that gelastic seizures associated with @DISEASE$ are generated within the @PHENOTYPICFEATURE$ itself, and that it is possible to control epilepsy and to improve intellectual and social problems with only partial resection of the mass.	false
+4956b8562ad3a3becd45a599aa734429e96a5daa	Most notably, children with @PHENOTYPICFEATURE$ such as infantile spasms or gelastic seizures caused by @DISEASE$ now have the opportunity to benefit from surgery.	false
+974546b9eed1d73f2024eb7f8c2d70851b6fa3e0	Gelastic seizures in @DISEASE$ arise from the @PHENOTYPICFEATURE$ itself; the interictal spike-wave does not.	false
+3d5a3b816bfc0a26362d6353df32547f0338ca8c	OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue @PHENOTYPICFEATURE$(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) @DISEASE$.	false
+aab5a7e4bcafaacfc924b085497393aebec77f1c	Callosotomy for @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+da6eeece1141198661d29896733d57299e40d3a8	Subsequently, similar benefits were shown in patients with tuberous sclerosis complex, Lennox-Gastaut syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e46ccc09828024042cd4a59f33f73cbe909dcede	To better understand the epileptogenesis of symptomatic generalized epilepsy in patients with @DISEASE$ and intractable epilepsy, many of whom experience remission of @PHENOTYPICFEATURE$ and slow spike-wave discharges following surgery.	false
+cfa40a92a58c5f4a7933ce122f261b4f4255cd77	Sessile @DISEASE$ (HH) often causes intractable epilepsy, which is difficult to control even by microsurgical resection and gamma knife surgery (GKS), especially when the @PHENOTYPICFEATURE$ is intrahypothalamic, large, or irregularly shaped.	false
+f98630c9e8a788170f67411bb0b0460b1526a6c6	The poor response to callosotomy suggests the extracallosal diffusion of the @PHENOTYPICFEATURE$ from @DISEASE$.	false
+ac1a14a3a4981028a6eed7a8ce7e713edebe4c2f	@DISEASE$ (SQTS), @PHENOTYPICFEATURE$ and many forms of cancer have also been associated with hERG as a target.	false
+f077479e8f97f182b84d6b697567accb8f19c10e	Recently identified genetic forms of @DISEASE$ (SQTS) are associated with an increased risk of @PHENOTYPICFEATURE$ and sudden death.	false
+ad48547a9b7efc60ca3ab93b7db88d147133302b	The @DISEASE$ (SQTS) is associated with @PHENOTYPICFEATURE$ and sudden death.	false
+1f7e166ae4f3147db50215dc4413dee87d06104a	The @DISEASE$ (SQTS) is associated with accelerated ventricular repolarisation and with an increased risk of @PHENOTYPICFEATURE$ and sudden death.	false
+887231e6fe71c36b15cfaaab8d62a0ad44ffed9c	The recently identified idiopathic @DISEASE$ (SQTS) is associated with an increased risk of @PHENOTYPICFEATURE$ and sudden death.	false
+c083fc3696282d644d4b77927445af0ff0c84bd5	With its molecular and pathophysiological concordance to the human @PHENOTYPICFEATURE$ syndrome, zebrafish reg represents the first animal model for human @DISEASE$.	false
+4f7497a8e5653b4c0f9a250d165a472977edef8a	The @DISEASE$ (SQTS) is a genetically heterogeneous condition characterized by abbreviated QT intervals and an increased susceptibility to @PHENOTYPICFEATURE$ and sudden death.	false
+b00a0e22b3aa986184070f6918d74d4236be1954	This review summarizes recent findings on the mutations of LTCC, which are associated with long QT syndromes, Timothy syndromes, Brugada syndromes, @DISEASE$, and some other @PHENOTYPICFEATURE$.	false
+e9cd1d04c4deb0006f52e0ff0af3b7dd2d4d9f39	The idiopathic @DISEASE$ (SQTS) is characterised by an abnormally short QT interval on the electrocardiogram and by an increased risk of @PHENOTYPICFEATURE$ and sudden death.	false
+b5067072c4642d4eb3754858906400a3dff5456a	A single gain-of-function mutation has been described that causes @DISEASE$ and @PHENOTYPICFEATURE$.	false
+749404b7b15f1293debec4ce3afee913c625b5bc	In the LTx group, 4 patients had Klatskin tumor including recurrent @PHENOTYPICFEATURE$ after resection(1), and 1 cancerization from @DISEASE$.	false
+d5a3c05cfb9a5c3fdb3b30842da28e0e0c99e654	The @PHENOTYPICFEATURE$ was unrelated to @DISEASE$, primary sclerosing cholangitis, ulcerative colitis, or nonbiliary cirrhosis, as demonstrated by further clinical and histopathologic investigations, but probably was associated with the presence of multiple bile duct hamartomas.	false
+946a44aa317343b4e469c863243e6f7595dbed19	Issues in differential diagnosis are discussed for the following findings: internal gallbladder echoes (calculi vs tumefactive sludge, air, hematobilia, parasitic infestation, cholecystosis, @PHENOTYPICFEATURE$, and artifacts), gallbladder wall thickening (acute cholecystitis vs acalculous cholecystitis, artifacts, ascites, hypoalbuminemia, hepatitis, and sclerosing cholangitis), pericholecystic fluid (cholecystitis vs ascites, perforated ulcer, and trauma), bile duct dilatation (biliary obstruction vs sclerosing cholangitis, biliary air, anomalous portal system, biliary atresia, @DISEASE$, and cholangiocarcinoma), perinatal and neonatal biliary disease, and sclerosing cholangitis.	false
+c09211c923826d55a859c29c46f696054d8100d1	Intra- and extra-articular giant cell tumor of tendon sheath (GCTTS) and @DISEASE$ (PVNS) are histologically similar, usually benign tumors that can be characterized by synovial involvement (GCTTS) or @PHENOTYPICFEATURE$ (PVNS).	false
+850fe17b23f6d83f3f04dcb75bab342e2ca56b0c	Two syndromes, @PHENOTYPICFEATURE$ and REM sleep behavior disorder (RBD), are increasingly recognized as harbingers of the core PD @DISEASE$.	false
+9e50b7f62d71647f8faefd2eb1482331523d894e	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) @PHENOTYPICFEATURE$, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) extraskeletal myxoid chondrosarcoma, 1/3 (33%) @DISEASE$, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) Ewing sarcoma showed PD-L1 expression.	false
+34a42e6f758855417c6f0af98c2f3b46af7a0c2c	Among these are chronic insomnias associated with an endogenous clock which runs slower or faster than the norm [delayed (DSPS) or advanced (@DISEASE$) sleep phase syndrome, or irregular sleep-wake cycle], periodic insomnias due to disturbances in light perception (non-24-hour sleep-wake syndrome and @PHENOTYPICFEATURE$ in blind individuals) and temporary insomnias due to social circumstances (jet lag and shift-work sleep disorder).	false
+546a9a4f0ff7cd5a77c9fe0b974450e4e1d71d5c	[Case of secondary @DISEASE$ associated with advanced @PHENOTYPICFEATURE$].	false
+111f94ba1278a83f361ea0532d46d253e8fa5ef1	In @PHENOTYPICFEATURE$, AQP7 is overexpressed in visceral fat,accompanied by portal @DISEASE$ and systemic hyperglycemia.	false
+08cca6f292ec7d925a80f70f49165e89588ba840	The authors present a novel case of a @DISEASE$ of the optic nerve producing bilateral optic tract @PHENOTYPICFEATURE$ in a patient with von Hippel-Lindau disease (VHL).	false
+a0e042708e22bc71d3db3a439746f48e479c2887	Based on small nodular enhancement with peritumoral @PHENOTYPICFEATURE$ and without dilated feeding arteries on conventional MRI, @DISEASE$, pilocytic astrocytoma, oligodendroglioma, and ganglioglioma were included in the differential diagnosis of the medullary tumor.	false
+0086c9d910f9550dc39d8eacff5968d2a1a527c5	CLINICOPATHOLOGIC conference; @DISEASE$ in the roof of the fourth ventricle with acute duodenal ulcers of neurogenic origin, hemorrhage into intestines, pulmonary congestion, @PHENOTYPICFEATURE$, and bronchopneumonia.	false
+fb8640dbd7f6b495eb5e94e09c0cd4eb1b413ceb	@DISEASE$ often had adjacent intraretinal @PHENOTYPICFEATURE$ and subretinal fluid.	false
+859592e506f87af49de64f1e7b5632ae8827d249	Our imaging studies had as a main hypothesis a frontal meningioma because of dural tail sign, lack of @PHENOTYPICFEATURE$, contrast enhancement pattern, and extra-axial location in the supratentorial region, in the frontal lobe, which is uncommon for a @DISEASE$.	false
+2377f1e0762a6f2811a109b077f0ad23d8160aad	Here, we describe a case of sporadic suprasellar @DISEASE$ with @PHENOTYPICFEATURE$-like changes along the optic tract that completely resolved after surgery.	false
+4abc7a2abaccb32919afe5d895dd586c4d91ff5d	MRI clearly showed peritumoral @PHENOTYPICFEATURE$ that developed and slowly and progressively evolved into enlarging @DISEASE$-associated cysts in all tumors (mean follow-up, 130 +/- 38 months; mean +/- standard deviation).	false
+f51e11afe93240e5253274b07cbe04197c5da6c1	This is the first known case of an optic nerve @DISEASE$ producing bilateral optic tract @PHENOTYPICFEATURE$, which resolved after resection of the prechiasmal tumor.	false
+3656afb0e0a8960aa7607591bf01bb45d28673d5	@DISEASE$ of the optic nerve producing bilateral optic tract @PHENOTYPICFEATURE$ in a patient with von Hippel-Lindau disease.	false
+913e74767c3047de89b0def15c3c241ef9856aa8	In recent years dermatologists have broadened the indications for phenytoin use to include recessive dystrophic epidermolysis bullosa, linear @PHENOTYPICFEATURE$, and @DISEASE$.	false
+274909a86db3d60000ee2e2d98853835f186319e	It is suspected that sudden nocturnal death in @DISEASE$ patients is caused not only by abnormal respiration resulting from impairment of the respiratory center, but also by glottic obstruction caused by sputum or by @PHENOTYPICFEATURE$ of the vocal folds.	false
+6423e9ef994a412c0e845eebd965a08caa798bec	ischemic heart disease, @PHENOTYPICFEATURE$ and cardiac failure) and bilateral vocal cord paralysis caused by @DISEASE$ as common OSAS.	false
+77d9ef33c2c494afeeca41601506c7d09ad1019b	Clinical features, prognostic and risk factors of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e627e9e0aa479f957e72d09c289936eb8e83884a	Differences between @PHENOTYPICFEATURE$ and neuropsychiatric systemic lupus erythematosus in patients with @DISEASE$.	false
+4b1097bb5a6cddfa84b28d0c084ba88559b55fb2	Differences between @PHENOTYPICFEATURE$ and neuropsychiatric @DISEASE$ in patients with systemic lupus erythematosus.	false
+f4d1cbe221f8d7c91342bc601200b52ee9286fc1	We describe a patient with catastrophic antiphospholipid antibody syndrome secondary to @DISEASE$ who presented with recurrent @PHENOTYPICFEATURE$.	false
+03b424cd0c7fa0b9931c0bb088060156058031a2	Data on coexisting Graves' disease (GD), @PHENOTYPICFEATURE$, and @DISEASE$ (SLE) are limited.	false
+93f002bfba13eac9b60ee3feabfd3af716345078	@PHENOTYPICFEATURE$ in @DISEASE$ are of an autoimmune nature.	false
+a9e93f6a4972627275fd21805dc588b135407f11	Linear @PHENOTYPICFEATURE$, hemiatrophy and @DISEASE$.	false
+41b2d39e8c53fe6674e36bb76ed9f99198fff761	Anti-prolactin autoantibodies in @DISEASE$ patients with associated @PHENOTYPICFEATURE$.	false
+373691995f4742a5d61ea34799aecb7218245a06	The authors studied colon microflora in patients with systemic @DISEASE$ @PHENOTYPICFEATURE$, nodular polyarteritis, and hemorrhagic vasculitis.	false
+2dd3554a0fdb3027b32c5a06f73e9bdab92c06da	@PHENOTYPICFEATURE$ and thrombotic complications are major causes of morbidity and mortality in patients with @DISEASE$ (SLE).	false
+20059dc0cc4b8258cb8dd56564188aea079cb323	@PHENOTYPICFEATURE$ and @DISEASE$ constitute relative contraindications.	false
+83f6b5f29400abb7af652045798a720b19af7b7e	Myxedema @PHENOTYPICFEATURE$, neonatal hypothyroidism, primary hypothyroidism, and secondary and @DISEASE$ are specific hypothyroid states for which drug therapy is discussed.	false
+612546e762441b22d765497f1ae22ded68425b68	@DISEASE$ is the most common psychiatric disorder reported among @PHENOTYPICFEATURE$.	false
+6992bb25a84767d1ba9b402b78f1b68c0e2be629	@PHENOTYPICFEATURE$ and potential age effect in men with @DISEASE$: an MRI comparative study.	false
+deab591631e15c891bdcfa0b46d221ad5b266cbb	@DISEASE$ in @PHENOTYPICFEATURE$: clinical features.	false
+c27b85aecf40e7f4bb4f1da43896ccfbb9b52ae1	mental illness (chronic @DISEASE$), 'learning disability' ('mental retardation', or intellectual or developmental @PHENOTYPICFEATURE$), or, dementia) and a fourth, comparison group.	false
+9f9a768811641004f091efbaa2a19ce20539dff2	mental illness (chronic @DISEASE$), 'learning disability' ('@PHENOTYPICFEATURE$', or intellectual or developmental disability), or, dementia) and a fourth, comparison group.	false
+509425d7ae7814bd10659e7410704d2fc2383bbf	[@DISEASE$ and serious @PHENOTYPICFEATURE$].	false
+0bca90fff10f86b57fda8bc5948756fa0afdb056	@DISEASE$ is associated with pragmatic @PHENOTYPICFEATURE$ (PLI), a reduced ability to communicate intention in a rule-governed fashion.	false
+20dcf0db09505a3d858d5efeb405b8381507e005	@DISEASE$ is a serious and @PHENOTYPICFEATURE$ mental disorder with a high heritability rate.	false
+ad31968174a2538206829e504ee359e2a8f09d42	@DISEASE$ is a chronic, severely @PHENOTYPICFEATURE$ brain disorder with symptomatic onset in early adulthood.	false
+211b3daab38dc78483f8a3ab36c653273ff125e8	Retinal @PHENOTYPICFEATURE$ in @DISEASE$ and bipolar disorder: A window to the brain.	false
+da00776bb96d1c0eecbff88264fa36227b8a0f84	Polly-@PHENOTYPICFEATURE$ and @DISEASE$.	false
+107580fcb01a60fa430e05a5dd0a6a5680a88770	First-line treatment in patients with @DISEASE$ and exfoliative glaucoma is topical medical therapy with ocular @PHENOTYPICFEATURE$ as eye drops.	false
+23b8c17485ce74216e1dcffc825303a89a318c40	To report the safety and efficacy of topical ocular @PHENOTYPICFEATURE$ medication in delaying or preventing the onset of @DISEASE$ (POAG) among African American participants in the Ocular Hypertension Treatment Study.	false
+5c113635d20ddfda10930a08a3147306ae9e9b57	This was a four-center, double-blind, randomized, placebo-controlled, parallel study in 73 patients with a diagnosis of bilateral @DISEASE$ or ocular hypertension and a morning intraocular pressure (IOP) of greater than 23 mmHg in both eyes following washout of ocular @PHENOTYPICFEATURE$ medications.	false
+96b1cfbd9b23324779df881dced5f400b0b20b4a	The Ocular Hypertension Treatment Study: a randomized trial determines that topical ocular @PHENOTYPICFEATURE$ medication delays or prevents the onset of @DISEASE$.	false
+8e620fde304de392b40fb59a20dcddda6bf9f3d5	To evaluate the safety and ocular @PHENOTYPICFEATURE$ efficacy of 4 trabodenoson doses administered twice daily over 14 or 28 days in subjects with ocular hypertension or @DISEASE$ (POAG).	false
+22d8fd13bbdd18bc6537d2f7b3575180b2b0c216	Brinzolamide and timolol added to latanoprost have similar ocular @PHENOTYPICFEATURE$ effects and safety in @DISEASE$, normal-tension glaucoma, or ocular hypertension.	false
+c026e0262390c1bdb3820b3ffda7f96b414bba66	The Ocular Hypertension Treatment Study (OHTS) seeks to evaluate the safety and efficacy of topical ocular @PHENOTYPICFEATURE$ medication in preventing or delaying the onset of visual field loss and/or optic nerve damage in subjects with ocular hypertension at moderate risk for developing @DISEASE$.	false
+102caa6f9f465215e9a1d89355d8761bd5648c0b	The study included 30 @DISEASE$ (POAG) patients using ocular @PHENOTYPICFEATURE$ medications and with no history of previous intraocular surgery (medical group), and 30 POAG patients previously submitted to one or more trabeculectomies though taking no medication at the time of the study (surgical group).	false
+f944d944e3f5a93cfc0c4fabb380ec80907bec56	To assess the safety and efficacy of one, two, or three trabecular microbypass stents in eyes with @DISEASE$ (OAG) not controlled on ocular @PHENOTYPICFEATURE$ medication.	false
+f04ed3afb8dc5ed727f9b7dbc506c58e3a0b77a5	The Ocular Hypertension Treatment Study (OHTS) seeks to evaluate the safety and efficacy of topical ocular @PHENOTYPICFEATURE$ medication in preventing or delaying the onset of visual field loss and/or optic nerve damage in ocular hypertensive subjects at risk for developing @DISEASE$.	false
+9b82a3f35f198b5754c5666191d64d0d947b6fad	In all three fetuses, necropsy including detailed microscopic assessments of the eyes and brains showed @PHENOTYPICFEATURE$ suggestive of Axenfeld-@DISEASE$.	false
+b9f06ecae510f2a2866177a6e4613f38f456aace	The COL4A1 mutations may be associated with various ophthalmologic developmental anomalies of @PHENOTYPICFEATURE$ type, which are reminiscent of Axenfeld-@DISEASE$ (ARA).	false
+0b6cbfb549fcff36ef3e17a1606c986bd648d6b8	The transcription factor FKHL7 gene has recently been associated with the @PHENOTYPICFEATURE$ disorder of the eye known as Axenfeld-@DISEASE$ (ARA).	false
+fa5c8a877ea96031a4d656b565ac6147f418dc6d	Peters' anomaly, which is characterised by @PHENOTYPICFEATURE$ and central corneal opacification, is distinct from @DISEASE$.	false
+23f30f6313e29f19b5791476ea3cd90fa6a63aa4	Laboratory tests revealed a mutation in PRRT2 gene, which is related to neurological disorders such as paroxysmal kinesigenic dyskinesia, @DISEASE$ migraine, episodic ataxia, paroxysmal torticollis, and @PHENOTYPICFEATURE$.	false
+3ba303e891c05858c483792a7a5c8506f08743cb	Treatment with @DISEASE$ reduced @PHENOTYPICFEATURE$ and MPO activity, which was at least partially attributed to a decrease in the levels of tumor necrosis factor, interleukin- 1 ?	false
+3451f1fe71817b5e838ba061580e801a155478e1	Treatment with @DISEASE$ did not reduce @PHENOTYPICFEATURE$, but reduced myeloperoxidase activity.	false
+5a4ee2f7f1b4e6c7c114cbfccbad86268b8d4392	The goals of this study were to (1) introduce the MRI phenomenon of focal periphyseal @PHENOTYPICFEATURE$ (FOPE) to the orthopaedic community and (2) describe characteristic features and clinical outcomes of a small series of adolescents with @DISEASE$ lesions about the knee.	false
+084114cee25234d3ae822c27fd739ed940388949	GSH was able to prevent hepatocellular @PHENOTYPICFEATURE$ and fatty degeneration, decrease liver @DISEASE$, attenuate the increased AST and ALT activity, and decline the increase of TNF-? and NO induced by omethoate.	false
+4de3acaf8e8a80e84d1d3827b4b8b50a4adf22e9	The main findings of unilateral acute @PHENOTYPICFEATURE$ and pre-operations of the paranasal sinuses in combination with persistent headache can lead to the suspect of an @DISEASE$ infection.	false
+13f5518bb25ed9dc50861681826765cea69e38ae	Identification of a novel mutation and a de novo @PHENOTYPICFEATURE$ in DKC1 in two Chinese pedigrees with @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+dcbe2071c94aae60f59316bb50f2ebe718932cad	[On @DISEASE$ accompanying @PHENOTYPICFEATURE$].	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+8039dd17dbab3fabebffb725e0f655a83e660746	@PHENOTYPICFEATURE$ and signs in first-episode, antipsychotic exposed and non-exposed patients with @DISEASE$ or related psychotic illness.	false
+f96f4fae9abf2b8b7f9b509efe48c8e839926346	A 42-year-old Hispanic woman with @DISEASE$ and bipolar affective disorder was transported from jail to the emergency department with confusion, @PHENOTYPICFEATURE$, vomiting, and constipation.	false
+959938f22bc2565f908c0064e24337fa16150619	A 42-year-old Hispanic woman with @DISEASE$ and bipolar affective disorder was transported from jail to the emergency department with confusion, abdominal pain, @PHENOTYPICFEATURE$, and constipation.	false
+8a88134e7deb951265142cfb92405803c1ecda54	@PHENOTYPICFEATURE$) may have a progressive component in patients with @DISEASE$.	false
+16c843748d48b2f3a4e82ffda795d22400fb9195	@PHENOTYPICFEATURE$ in adolescents with @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+7a8338ace71623ff14786b224da006cf042581f7	@PHENOTYPICFEATURE$ and chronic @DISEASE$: a case report.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+39768ac6f465e1687b13b0ca4fde79fc975ae960	These results do not support a causal association between @PHENOTYPICFEATURE$ and cortical or @DISEASE$ cataract.	false
+d46bda0b4e0684025ea4cc62a8312ff6863f454f	The association of @PHENOTYPICFEATURE$ with @DISEASE$ cataract is stronger than that with nuclear or cortical cataract.	false
+7c84250a106581452277f4612d2443d7a4969f3a	FTO single nucleotide polymorphisms known to be associated with @PHENOTYPICFEATURE$ in this study population were not associated with cortical or @DISEASE$ cataract but were associated with nuclear cataract (OR = 1.33, 95% CI: 1.11, 1.58), even in multivariate analyses controlling additionally for body mass index, diabetes, hypertension, and smoking (OR = 1.30, 95% CI: 1.08, 1.55).	false
+37d8bcc177b30af25a854141fabe2345d2032e71	However, among persons in the lowest quintile of protein intake, @PHENOTYPICFEATURE$ may be associated with @DISEASE$ cataract.	false
+cfc2acc34059e73a96d1ef4b8ac7511cf65b20e6	To evaluate with Magnetic Resonance (MR) the degree of fatty replacement and @PHENOTYPICFEATURE$ involvement in skeletal muscles in patients with @DISEASE$ (TAM).	false
+2609b0b062ceb75674569c522dc98e2451a834ec	The risk for @PHENOTYPICFEATURE$ with @DISEASE$ and/or laser in situ keratomileusis/photorefractive keratectomy in the same range of myopia is possibly 3.0% to 6.5%.	false
+333a86afd084d0a4617c61dfd49f8c872f531236	Her baby had multiple @PHENOTYPICFEATURE$, subsequently diagnosed as @DISEASE$.	false
+44d3df6a6b13b750a7685470a662ffc51713f468	This syndrome represents a lethal form of @DISEASE$, and the essential neuropathologic findings are marked reduction in the number of spinal motor cells and @PHENOTYPICFEATURE$.	false
+a27f999e367200b30af19889f35f669d419e3fb1	Ten of 18 children in a highly inbred Arab kindred suffered from either ataxia telangiectasia (AT) or a variant syndrome consisting of ataxia, @PHENOTYPICFEATURE$, and congenital cataract (@DISEASE$).	false
+f540b6ee50ed5a59d20e9811bfda9e5536ba409d	@DISEASE$ distal type II associated with @PHENOTYPICFEATURE$, renal abnormality, polydactyly and Hirschprung's disease.	false
+1c37a6718c8898ae979755b104314923b55b1cda	A child with @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+bf5d75f649b99cb34119e62ea86fd48ef7dd2739	Pre-edema and @PHENOTYPICFEATURE$ @DISEASE$ were compared at matched LV SACS end-diastolic areas (ALc = 15 cm2).	false
+3a2910418238f6b83554f413aafbf1ce60642e3c	All three neonates had @PHENOTYPICFEATURE$, @DISEASE$, and micropenis.	false
+f4cad6b1bea4def22db369a5c55bd8db018559c2	A case of @DISEASE$ distal type II associated with @PHENOTYPICFEATURE$, renal abnormality, postaxial poydactyly and Hirschprung's disease is described.	false
+dcdb63287391919b7a07c2e0a0ee9c491ca25005	A male in his early thirties with a history of @DISEASE$ and a transsphenoidal prolactinoma resection presented years later with abdominal symptoms concerning for Zollinger-Ellison syndrome: worsening epigastric @PHENOTYPICFEATURE$, nausea, vomiting, and diarrhea.	false
+531b9a1936aa9890e69f77c61825a69648882f6c	A male in his early thirties with a history of @DISEASE$ and a transsphenoidal prolactinoma resection presented years later with abdominal symptoms concerning for Zollinger-Ellison syndrome: worsening epigastric abdominal pain, nausea, @PHENOTYPICFEATURE$, and diarrhea.	false
+67cdfade91fe9a582ce5baa78c1e1541188544fe	@DISEASE$ crisis is a rare disease but should be suspected in acutely ill patients complaining of weakness, lethargy, nausea, @PHENOTYPICFEATURE$, confusion and abdominal pain.	false
+c212618faf9c1da6ac016e0e57f562259532bf8a	@DISEASE$ crisis is a rare disease but should be suspected in acutely ill patients complaining of weakness, lethargy, nausea, vomiting, confusion and @PHENOTYPICFEATURE$.	false
+31ec7d98ac8bc5f60655ba7978df795f3da6eb81	@DISEASE$ crisis is a rare disease manifested by elevated serum calcium, weakness, @PHENOTYPICFEATURE$, altered states of consciousness, and elevated circulating parathormone.	false
+0adb5b56ecddbb61e0a90fd0d4cd6e1ce89ee4e6	"True" endocrine disorders, like @DISEASE$ or @PHENOTYPICFEATURE$, that are associated with renal insufficiency are in contrast with "laboratory" endocrine disorders in uremia, where pathological serum hormone levels lack clearcut clinical evidence for dysfunction of the respective endocrine organ (e.g.	false
+ebe471b235c8fc5fcfb85832c4e6d9884f72809c	A new syndrome of autosomal recessive @PHENOTYPICFEATURE$, deafness, and @DISEASE$.	false
+aeb54dc11e8733b30943603a01513f9eef17f57a	@DISEASE$-jaw tumour (HPT-JT) syndrome is characterized by parathyroid tumours as well as by ossifying fibromas of the mandible and maxilla, @PHENOTYPICFEATURE$, or Wilms' tumours.	false
+f8ff5c5ed3b4d7d48c4bd2113a34c954908df2f7	Clinical symptoms of @DISEASE$ are generally nausea, @PHENOTYPICFEATURE$, fatigue, constipation, and hypotonicity of the muscles and ligaments; bone pain and tenderness are also seen but are more common in secondary hyperparathyroidism.	false
+17ede5237e83bfd11bb1e1e25b0924e6bd9f89d6	It can be overlooked easily because of many similar complaints shared by @DISEASE$ and pregnancy such as @PHENOTYPICFEATURE$, gastritis, bone aches, easy fatigability.	false
+625c7d4bef0782ca394a392a9907271050ea3369	Introduction Adenomas of the parathyroid gland typically present with symptoms of @DISEASE$, manifested by fatigue, bone pain, @PHENOTYPICFEATURE$, weakness, dyspepsia, nephrolithiasis and skeletal bone disease.	false
+d69f70ff0b599b41ad5f2507595f3d405afe1c6f	The history of repeated local steroid administration has to be implicated as the cause of this extremely rare injury in this patient, which can also be associated with @DISEASE$, @PHENOTYPICFEATURE$, diabetes and rheumatoid arthritis.	false
+a1a3c727495f64ad85acdbe41347d413aedc2b8f	We report a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$ and left anterior temporal hemorrhage and a nontraumatic subarachnoid hemorrhage due to multiple intracranial arteriovenous fistulas (AVFs).	false
+1201f137eea9e7fe2e42fd7dad09c731ac073a80	@PHENOTYPICFEATURE$ after cerebellar @DISEASE$ surgery.	false
+d09bedf72576f2fea701ad6c78cc4bbeec055e15	Long-term effects of transient cerebellar @PHENOTYPICFEATURE$ after cerebellar astrocytoma or @DISEASE$ tumor resection in childhood.	false
+0554913785018d3acaa1d961f840edd0e0e68186	A 3-year-old child with microcephaly, @PHENOTYPICFEATURE$, growth retardation, and developmental delay was diagnosed with @DISEASE$.	false
+2db6d26f3c6a0534f41f05737376189fd3ecacc9	@DISEASE$ is one the most malignant paediatric @PHENOTYPICFEATURE$.	false
+0eaa76e4e4cc832c85602eea3ba20c024b18e22f	Bilateral @PHENOTYPICFEATURE$ developed in a 15-year-old patient receiving concomitant neuraxis radiation therapy and weekly vincristine sulfate for @DISEASE$.	false
+e2e6d1dd6d00b69f11401f3668af3b93a3af5766	Incidence and severity of postoperative cerebellar @PHENOTYPICFEATURE$ syndrome in children with @DISEASE$: a prospective study by the Children's Oncology Group.	false
+c1d9a3f695717deaadfd74692f351ec09c2bddb6	Neurocognitive outcome 12 months following cerebellar @PHENOTYPICFEATURE$ syndrome in pediatric patients with @DISEASE$.	false
+908704444cd4e5bcd507d939fcf51447d3769b7b	This mechanism may explain in part the occurrence of plasma volume expansion and hypertension in @DISEASE$ and suggests a risk of fluid retention and possibly hypertension in subjects receiving supraphysiological doses of bio-hGH for treatment of @PHENOTYPICFEATURE$.	false
+07fb6bb46399e997d4a8f54c5d85d0395d842d10	Secondary @PHENOTYPICFEATURE$ is common and occurs frequently in patients with endocrine disease such as hy- pothyroidism, Cushing's syndrome, and @DISEASE$, metabolic disease such as diabetes mellitus, renal dis- ease such as nephrotic syndrome and chronic renal failure, liver disease such as obstructive liver disease, and as a side-effect of glucocorticoids and estrogens.	false
+1fad7b416458dc570d3af87e0db5603232e65409	Using two-color flow cytometry, we identified GHR on circulating B lymphocytes in subjects with GH deficiency (n = 9), precocious puberty (n = 6), and Turner syndrome (n = 5) and in seven subjects with miscellaneous disorders, including familial @PHENOTYPICFEATURE$, bone dysplasia, Crohn disease, congenital adrenal hyperplasia, and @DISEASE$.	false
+c72cff786720ccdfd3f5e7ff0549c50574d90504	Sudden cardiac death may occur in patients with @DISEASE$ and malignant @PHENOTYPICFEATURE$ may play an important role in this fatal complication; however, the precise mechanism is not fully known.	false
+f328acab7f1f483b202cf9f311a2dc10cf5133aa	Specific conditions discussed are rheumatoid arthritis, crystal deposition arthropathies, osteoporosis, diffuse idiopathic skeletal hyperostosis, diabetes mellitus, hypertrophic osteoarthropathy, Paget's disease, @PHENOTYPICFEATURE$, sarcoidosis, sickle cell anemia, and @DISEASE$ and their effects on the heel.	false
+c043e767bd98bc362ed3869c08105fe3ac18c021	A 22-year-old female with @DISEASE$-like lesions, deep @PHENOTYPICFEATURE$ and lipoatrophic areas of the skin on lateral aspects of the upper arms, on the breasts and on the buttocks is described.	false
+e6c7852870b0e0c72b9301a3ba66948868d312ce	Mortality resulted from infections and morbidity from @DISEASE$ syndrome, pulmonary and hepatic insufficiency, @PHENOTYPICFEATURE$-like skin disease, and contractures.	false
+0bad5d6adf8662c7befd9bc33875efb3c93df1d3	From the differential diagnostic point of view, the mucosa @PHENOTYPICFEATURE$ syndrome has to be distinguished from the Jadassohn-Lewandowsky syndrome and the @DISEASE$, which is associated with esophageal carcinoma.	false
+1dd1e0a665e03aba4da72ff15656b9240a5070b3	Mutations in the plectin gene (PLEC1) cause @DISEASE$ associated with @PHENOTYPICFEATURE$, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes.	false
+718761a8fa17956ec16c13635f3247d94d49b462	One was that a hereditary disease, epidermolysis bullosa simplex (@DISEASE$)-MD, characterized by severe skin blistering combined with @PHENOTYPICFEATURE$, is caused by defects in the plectin gene.	false
+80ee25dbffd8bb1daf980aeaf6595c0a07d24813	The skin phenotype of these mice was similar to that of patients suffering from epidermolysis bullosa simplex (@DISEASE$)-MD, a hereditary skin blistering disease with @PHENOTYPICFEATURE$, caused by defects in the plectin gene.	false
+8776b476d506c46e4a01423a58ebb6609a926434	We describe a rare, but interesting, case of @DISEASE$ (TSHoma), accompanied by increases in both anti-TSH receptor antibody (TRAb) and thyroid-stimulating antibody (TSAb) after @PHENOTYPICFEATURE$ resection.	false
+1986f1bba6ff5317e498c518ca2675a02662ac5c	We describe a rare, but interesting, case of TSH-producing adenoma (@DISEASE$), accompanied by increases in both anti-TSH receptor antibody (TRAb) and thyroid-stimulating antibody (TSAb) after @PHENOTYPICFEATURE$ resection.	false
+a410625a4e21f8bf5afb099bc43a986e32a6f73b	@DISEASE$ is a rare @PHENOTYPICFEATURE$, however heart failure is common disease.	false
+d98ddf22ce55ad848085ae993b455d3a95ee13f9	Failure to recognise the presence of a @DISEASE$ may result in dramatic consequences, such as improper thyroid ablation that may cause the pituitary @PHENOTYPICFEATURE$ volume to further expand.	false
+a14dd97964ea795e99dbfb36bdf36b6941d8e5ad	Pathologic analysis of his @PHENOTYPICFEATURE$ was consistent with @DISEASE$.	false
+4ec67af9e5184ea1549826bdad25cffc5c271895	As her @PHENOTYPICFEATURE$ was diagnosed to be GH- and @DISEASE$, octreotide injection therapy was started, which normalized thyroid hormone levels.	false
+613f4950b4b03319c9711de9f322223b3dd938bd	Monoclonality of the @PHENOTYPICFEATURE$ cells proved that the pituitary tumor was plurihormonal @DISEASE$, not TSH hyperplasia.	false
+e6d195f3d0da9ebad0f87703ac6a53e5619213db	@DISEASE$ (TSHoma) is a rare benign endocrinological @PHENOTYPICFEATURE$ which produces TSH in the pituitary gland.	false
+c5e9bf33c3f888c7e4c995057102c5d2c692d84a	Thyroid-stimulating hormone-secreting pituitary adenoma (@DISEASE$) is a rare benign endocrinological @PHENOTYPICFEATURE$ which produces TSH in the pituitary gland.	false
+208fed3f24ac78b57f148e605960d860d7c2e848	One patient with @PHENOTYPICFEATURE$ had a @DISEASE$ in the setting of multiple endocrine neoplasia syndrome.	false
+81949a702d9e1ec9cc134709b4eef163a70e56c8	Its etiology may be @PHENOTYPICFEATURE$ (@DISEASE$) or non tumoral due to pituitary or generalized resistance to the thyroid hormones.	false
+bde940037460617f4e72c69cea3ba7dcab587389	All of six patients with densely calcified @DISEASE$, previously reported in the literature, remained well without @PHENOTYPICFEATURE$ recurrence.	false
+ae7e928821b12c6943efe867766d45d9de2d4f70	@DISEASE$ should be suspected in patients who present with a constellation of symptoms, including flushing, @PHENOTYPICFEATURE$, diarrhea, unexplained syncope, and classic urticaria pigmentosa lesions.	false
+38bdd86b55552d33734b327de0e637dc6eab3003	Systemic @DISEASE$ (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, @PHENOTYPICFEATURE$, fever, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy.	false
+f4661b9924d95bccedd210856a49b6bfff5d0406	@DISEASE$ is a disorder of abnormal mast cell proliferation, with clinical features that include flushing, pruritus, @PHENOTYPICFEATURE$, diarrhea, hypotension, syncope, and musculoskeletal pain.	false
+1367d13e776701cddfac061457c9134f531a6fcb	Reversible profound @PHENOTYPICFEATURE$ due to propranolol sensitive hemangioma in an infant with @DISEASE$.	false
+0281f7a8f49e502f02e28ac360d444288141b90d	Children with @DISEASE$ (PS) and @PHENOTYPICFEATURE$ or stridor show a dramatic and immediate response to propranolol.	false
+c243ad33b673e2fa13729a2bfdf8539b0e336a2f	@DISEASE$ is characterized by infantile hemangioma and developmental @PHENOTYPICFEATURE$, arteries of head and neck, and aortic arch.	false
+f380011c21b89b069083a3578c30a4607a2f12a0	Follow-up was determined by last clinical visit or study correspondence and included review of recurrent @DISEASE$ or myocardial infarction, @PHENOTYPICFEATURE$, and death.	false
+767bce1998dfef7a38be7eebb8a2e865d322c052	The presence of FMD was not associated with @DISEASE$ recurrence (relative risk [RR] 1.2; confidence interval [95% CI] 0.60, 2.5), @PHENOTYPICFEATURE$ (RR 0.66; 95% CI 0.20, 2.3), or myocardial infarction (RR 1.34; 95% CI 0.69, 2.6).	false
+c21d9663a1f383ede60f4d0e9cb60bed46dd65bf	We evaluated the long-term effects of RAS blockers (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker) on the clinical outcomes in patients with @DISEASE$ without @PHENOTYPICFEATURE$ (HF) who underwent percutaneous coronary intervention (PCI) with drug-eluting stent using a large-scale, multicenter, prospective cohort registry.	false
+e2f4718e2ebfdb31b84ed478c3589b89cfcd7928	This report describes a 1.5 years-old male child with clinical signs of velo-cardio-@DISEASE$ (VCFS) presented with @PHENOTYPICFEATURE$, soft cleft palate, developmental delay, acrocephaly, seizure, MRI abnormalities and descriptive facial feature, such as hypertelorism.	false
+425966db9e953e02cec4cf2ace8ec38af6e717a2	This report describes a 1.5 years-old male child with clinical signs of velo-cardio-@DISEASE$ (VCFS) presented with heart defect, soft cleft palate, developmental delay, acrocephaly, seizure, MRI abnormalities and descriptive facial feature, such as @PHENOTYPICFEATURE$.	false
+12aad6d5b13f2b290d084152334fe1937f3383ee	Its association with others @PHENOTYPICFEATURE$ @DISEASE$ is possible.	false
+cee7196b4ecd76bebcbbb363766fc28a56b2492f	syndrome (Del22) (DiGeorge/Velo-Cardio-@DISEASE$) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal @PHENOTYPICFEATURE$, immune deficit, speech and learning disabilities.	false
+98dec3c8286368c6f459b23fa8a6f6fc191d4fb2	syndrome (Del22) (DiGeorge/Velo-Cardio-@DISEASE$) is characterized by @PHENOTYPICFEATURE$ (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities.	false
+1d1fe79ac39f15f0fa6cce83145f1f265db9049e	Similar deletions are seen in the velo-cardio-@DISEASE$ (VCFS) and familial @PHENOTYPICFEATURE$.	false
+95bd6287482a73d25069882bed891f21c98f3fce	A case of cardio-@DISEASE$ with dysmorphic and asymmetric crying face, @PHENOTYPICFEATURE$, failure to thrive is described.	false
+86fe177d7253d0b3b8a1345424d64c41eb380862	Branchio-oculo-@DISEASE$ (BOFS) and @PHENOTYPICFEATURE$.	false
+ee13fd15c70fda460e35bc4661c009b9a201c58a	Clinical presentation and the presence of @PHENOTYPICFEATURE$ in branchio-oculo-@DISEASE$: a new mutation in the TFAP2A gene.	false
+0cd27fa06361991cf0586ebf9566b8a12decd34a	Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and @PHENOTYPICFEATURE$: definition of the acro-cardio-@DISEASE$.	false
+3aaf22eeedab34fa27e5d2678e7ce09912063646	Cleft lip/palate, abnormal ears, ectrodactyly, @PHENOTYPICFEATURE$, and growth retardation: definition of the acro-cardio-@DISEASE$.	false
+0d3769afc7186821b286119f7809c668c12fd8fa	We report the case of a 43-day-old boy with branchio-oculo-@DISEASE$ (BOFS) and @PHENOTYPICFEATURE$.	false
+1db18742b4a9b3abf2fba8c35419b5fd26642d07	A new syndrome involving cleft palate, @PHENOTYPICFEATURE$, typical facies, and learning disabilities: velo-cardio-@DISEASE$.	false
+96ad9fd64b3d0ffa9be19b484fb061b81bf97ffa	Orbital apex syndrome (@DISEASE$) is a rare disease that presents with a complex of symptoms, including ophthalmoplegia, ptosis and @PHENOTYPICFEATURE$.	false
+1565b7bafaed441fe8def324ae6312599ba39a50	Orbital apex syndrome (@DISEASE$) is a rare disease that presents with a complex of symptoms, including ophthalmoplegia, @PHENOTYPICFEATURE$ and visual loss.	false
+d0af44d9c87475f72bad688b8f13329424a38bde	@PHENOTYPICFEATURE$ and diplopia were diagnosed in four male patients with mean age of 61.2 years who were undergoing treatment for late-stage carcinomas of the tongue, larynx, and nasopharynx, eventually leading to the diagnosis of @DISEASE$.	false
+883d4f5c5fc8ab923c467bb12d3cf185cd37e8cd	Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (@DISEASE$) because it is characterized only by the combination of eye and @PHENOTYPICFEATURE$.	false
+a404290d2d1a8c12da699c06d24f0a7649d70d5c	Included in the sampling, as determined by standard diagnostic criteria, were 12 patients with absorptive hypercalciuria type I, 15 with absorptive hypercalciuria type II, 22 with renal leak @PHENOTYPICFEATURE$, 11 with normocalciuria, 6 with primary hyperparathyroidism, 3 with renal tubular acidosis and 1 with @DISEASE$, as well as 12 control subjects.	false
+4b7bad975ac09b0dfb0b716dab2a7823ae7719ca	Included in the sampling, as determined by standard diagnostic criteria, were 12 patients with absorptive @PHENOTYPICFEATURE$ type I, 15 with absorptive hypercalciuria type II, 22 with renal leak hypercalciuria, 11 with normocalciuria, 6 with primary hyperparathyroidism, 3 with renal tubular acidosis and 1 with @DISEASE$, as well as 12 control subjects.	false
+5952921c2b28a3ee62e23623d531ff982e92d6d5	In the first patient (a 7-month-old female with @DISEASE$) extremely young age and previous chemotherapy with a podophyllotoxin derivative, VP-16, may have prediposed the patient to fatal @PHENOTYPICFEATURE$ at a total Daunorubicin dose of only 225 mg/m2.	false
+c910bfc32d7013fd9fe26f7081638306b1642e55	Pituitary tumors associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bf09343535bdebd7dbce3dee733c185825821264	Women with @DISEASE$ and hyperthecosis have @PHENOTYPICFEATURE$ and insulin resistance.	false
+b736f3b3aad911b6d37100aca4a30d147b0f6cae	High-risk patients are those with @DISEASE$, @PHENOTYPICFEATURE$ and hypothyroidism.	false
+5636b5db86f84395033ad3c9a08216e24bf74175	Childhood obesity is associated with @PHENOTYPICFEATURE$, menstrual irregularities during adolescence and @DISEASE$.	false
+f0f0923f18560d9496e1f1246b3b4fc14a2f62ae	Galactorrhea and @PHENOTYPICFEATURE$, or both, have been described in some patients with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+5ebda32dd48ed2ed870454a9a1b651b33986fd26	@PHENOTYPICFEATURE$ and uterine perfusion in patients with @DISEASE$.	false
+a3b6b55b6f031a27e4df2326c6d58caf0c04f38a	We suggest that @DISEASE$-induced disorders are likely to be exacerbated in the presence of @PHENOTYPICFEATURE$.	false
+11f9ab8128a753cc4902f7b07974f13ee7cbec5a	@PHENOTYPICFEATURE$ can induce both systemic and follicular fluid oxidative stress independent from @DISEASE$.	false
+d0a9a42d4185859352c7340a23a584c8bf1b3987	Reduced fetal growth appears to be associated with precocious adrenarche, @PHENOTYPICFEATURE$ and @DISEASE$ with subsequent fertility problems.	false
+db802451811b4d509114d206b5613c4dd9ef67b0	[Presentation of 2 cases of sudden @PHENOTYPICFEATURE$ in patients with @DISEASE$ and trait].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+968f8244663fc5ac77abeeb76d66c1a461e327e5	@DISEASE$ and sudden @PHENOTYPICFEATURE$.	false
+aef5b3fee0fdd0e11142c2f150edb3af7883d75e	@DISEASE$ (SCA) is associated with @PHENOTYPICFEATURE$ and premature death.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+f8e71857483b5e72734ca239587edbf8079f1e10	[Sudden @PHENOTYPICFEATURE$ in @DISEASE$: a case report].	false
+6c1a99af4bf489cf47e8174076554a4657f60ae8	Relationship between pulmonary and @PHENOTYPICFEATURE$ in @DISEASE$: implications for the management of patients.	false
+7120d8768c42bcc7e96a13dc5ae0bb550ed535a7	Chronic intrahepatic cholestasis is a rare and severe complication in @DISEASE$, characterized by marked @PHENOTYPICFEATURE$ and acute hepatic failure with an often fatal course.	false
+4ae37f17a7fa3308bcad8251c5b7889bc75dd9e4	An 81-year-old woman presented with @DISEASE$ and @PHENOTYPICFEATURE$ due to abducens nerve palsy because of a giant cavernous carotid artery aneurysm.	false
+838e8cc5487089b3a6ef22eb48ed8241ad581932	A case is presented of metastatic tumor causing Jacod's syndrome: total ophthalmoplegia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+8d3770c2b24bff73224962e50cb7161ce2c49a3e	Amongst the less common presentations, the initial symptoms mimicked such diagnoses as Meni?re's disease, benign positional @PHENOTYPICFEATURE$, vertebro-basilar migraine, vertebro-basilar insufficiency, Bell's palsy and @DISEASE$.	false
+014c497d4bcec4d47830a9ac0bdf4bbd959b3340	However, additional indications include treating intractable hiccups; inducing a sympathectomy and vasodilation to increase blood flow after a vascular accident, digit transfer/replantation, or limb salvage; alleviating vasospasm of Raynaud disease; and treating peripheral embolism and chronic pain such as complex regional pain syndrome, phantom @PHENOTYPICFEATURE$, @DISEASE$, and cancer-induced pain.	false
+67b5f2871f1543235d3743a511e6e8f7f609b758	@DISEASE$, facial spasm, tinnitus, @PHENOTYPICFEATURE$, and glossopharyngeal neuralgia are believed to be the symptoms complex of hyperactive dysfunction of the cranial nerve caused by vascular cross compression at the root entry (exit) zone of the appropriate nerve.	false
+18bf842c065161ff2ee9629dceda2d25e260cbc5	Following the successful treatment of @DISEASE$ and hemi-facial spasm by liberation of the Vth and the VIIth nerve from the mechanical irritative lesion, frequently a vascular loop anomaly, it was postulated that the same cause could be responsible of tinnitus and @PHENOTYPICFEATURE$, secondary to irritation of the VIIIth nerve, in some cases.	false
+f31d1ce54dc4d235cdf424131f07198d6c627173	The conventional statistical analysis confirmed that age, anemia, uremia, hypoalbuminemia, hyperglobulinemia, @PHENOTYPICFEATURE$ and IgA lambda type @DISEASE$ were associated with a poor prognosis.	false
+ee679452faf92239bfc5077cfd58573319b72e75	Profound @PHENOTYPICFEATURE$ and isolated hyperphosphaturia in two cases of @DISEASE$.	false
+ee119a577104e2de999a32dce62c8f36b3dd3051	Bone metastases secondary to @DISEASE$, are characterized by severe bone pain, pathological fractures, hypercalcaemia and @PHENOTYPICFEATURE$.	false
+13414665f7781e589963a8f4f972206ea9d3b9a5	Pleural effusion in @DISEASE$ may be due to plasma cell infiltration of the pleura, congestive heart failure, @PHENOTYPICFEATURE$, nephrotic syndrome, and second neoplasms.	false
+e0bcda242b546e996a07a7a37832d09026fa779e	Spurious @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+99d53e1cc916e8f1b61cd7eec05e5023db63ff56	Ten patients with active @DISEASE$, wide-spread bone disease, and @PHENOTYPICFEATURE$ were studied in a double-blind, placebo-controlled, crossover-designed trial in which they took Cl2MDP for eight weeks and placebos for eight weeks.	false
+a3c92000dad58e88d58874740d3f70db937d2ac0	Patients over the age of 65 years, with @DISEASE$, hypertension or @PHENOTYPICFEATURE$ are at increased risk for developing nephrotoxicity.	false
+edc071fbc49113ddbb1269027ef96d457f7ced2c	Comparison of these findings with those obtained in a number of control groups suggests that in @DISEASE$ without renal failure, mild @PHENOTYPICFEATURE$ exists.	false
+80c4aa951218e25566c30877627342487a42e5c9	A 45-year-old male with @DISEASE$ who underwent autologous peripheral stem cell transplantation subsequently developed bilateral @PHENOTYPICFEATURE$.	false
+baae1784eef51686fc54a378fe399f1c51ce76df	@PHENOTYPICFEATURE$ and nephrolithiasis, anticonvulsant drug use, thyrotoxicosis, immobilisation, liver and renal disease, @DISEASE$ and systemic mastocytosis have all been associated with osteoporosis in men.	false
+216f1446bd8f36ef1f552c1fc876f4237a5ba501	Patients with @DISEASE$ (SGD) develop recurrent severe bacterial @PHENOTYPICFEATURE$.	false
+a42518fe80881f22e608a5a7a78bc943f2e4f488	Alstr?m syndrome is a rare inherited @DISEASE$ in which early progressive cone-rod dystrophy leads to childhood @PHENOTYPICFEATURE$.	false
+6998ec2526c74a39c21ff1e00c774b296fb316b3	The @PHENOTYPICFEATURE$ and obesity noted in the youngest girl suggest that for some patients biallelic C21orf2 mutations may result in syndromic @DISEASE$.	false
+29501b56ba7a60fa646f1b9a7944173ea167266f	In two Arab consanguineous families, we mapped a @DISEASE$ phenotype that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, @PHENOTYPICFEATURE$, polydactyly, and subtle posterior fossa abnormalities) to a single locus in which a founder homozygous truncating variant in FAM149B1 was identified by exome sequencing.	false
+bc428fcf524ce5447b1bb87975a71c84c55328d8	Xpc(-/-) mice displayed a significant increase in @PHENOTYPICFEATURE$ and a trend toward increased liver tumors compared with @DISEASE$-deficient or wild-type mice.	false
+0229ef7c515711dc5e85d4e5ec649f7f585a2b20	Patients with @DISEASE$ who undergo surgery to prevent colorectal cancer experience various @PHENOTYPICFEATURE$ that may affect their physical and mental health.	false
+6c333f9fdbd7a06b6b4d73eb6c5ead3d67954c35	In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused @DISEASE$ characterized by cerebellar ataxia and sensorineural hearing loss, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo @PHENOTYPICFEATURE$, c.796A>C (p.Asn266His) which associated multiple anomalies.	false
+aee80a6be89b3fd2c1413b3d18bf3edb92885499	This results in a range of pathology including laryngotracheal stenosis, arthropathy, prognathism and @PHENOTYPICFEATURE$, or @DISEASE$ syndrome.	false
+9fbd986156d66e3a63a6d3f9e44a73dd2629cb2e	We provide extensive clinical information on two additional unrelated patients with this distinctive disorder and propose the name @DISEASE$ syndrome, to reflect the most consistently recognized features, namely, Laryngotracheal stenosis, Arthropathy, Prognathism, and @PHENOTYPICFEATURE$.	false
+0e1fa412f3592cc6758481598194b0807841da9f	Myhre-@DISEASE$ syndrome is characterized by progressive systemic fibrosis and patients are diagnosed by characteristic findings of prognathism, @PHENOTYPICFEATURE$, abnormal facies, and thick skin among other abnormalities.	false
+f5b1f4619271b8ec77938614bb50015738ce4853	@DISEASE$ (CHH) is a rare chondrodysplasia, including @PHENOTYPICFEATURE$, hypoplastic hair, immunodeficiency, and increased risk of malignancies.	false
+09c719c1e7c9bd0dc81674e75a4d3800c44d98e6	Although neither patient exhibited a toxic effect, these levels may be associated with an increased risk of thioridazine-induced irreversible pigmentary retinopathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+08f63fd9ed97f753e5d869ccdf33222852cc7f64	Whole-exome sequencing identified compound heterozygous mutations in TIMM50 (c.[341?G>A];[805?G>A]) in a boy with @DISEASE$, @PHENOTYPICFEATURE$, neutropenia, cardiomyopathy, Leigh syndrome, and persistent 3-MGA-uria.	false
+e7e6d066297eece0a3ae7345fb04d7171050f034	We present a boy, admitted at 4 months, with @PHENOTYPICFEATURE$, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (@DISEASE$), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space.	false
+7feb9170a2b1f875158d8b502964946d0b7d8d9d	We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (@DISEASE$), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and @PHENOTYPICFEATURE$.	false
+69ec873102e4e8dbe949cf9a92e5a1a9357cb6d5	Among affected individuals 90% had electrical @PHENOTYPICFEATURE$, 82% weakness, 61% @DISEASE$% diabetes, and 19% cardiac involvement.	false
+86e546734dae47bd9d814e27dd3af8e672261e07	To determine if PCT might be a useful marker of @DISEASE$ in children presenting with @PHENOTYPICFEATURE$ and rash.	false
+f1f79f4d51abaa71db8d48bdfecdcc1fff2bb3a3	Multicentric Castleman's disease (@DISEASE$) is a rare disorder characterized by @PHENOTYPICFEATURE$, polyclonal hypergammaglobulinemia, and generalized lymphadenopathy.	false
+ca97eee769278a5666688d2a77d16fd76b7c01a8	Multicentric Castleman disease (@DISEASE$) is a lymphoproliferative disorder characterized by systemic symptoms like recurrent lymphadenopathy, @PHENOTYPICFEATURE$ and hepatosplenomegaly.	false
+47c343e3b6db55cc588562d941195bdce635aab4	This comparison has never been reported in the differentiation of meningococcal disease (@DISEASE$) in children presenting with a @PHENOTYPICFEATURE$ and rash.	false
+237144b87440c1ab697cfd5515fd82be44101c92	Metaphyseal chondrodysplasias (@DISEASE$) are skeletal disorders characterized by metaphyseal irregularities and, usually, by @PHENOTYPICFEATURE$.	false
+8c609b35ad2328e224eedfc9bfb335b7f3562e31	Schmid metaphyseal chondrodysplasia (Schmid @DISEASE$, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by @PHENOTYPICFEATURE$, bowed legs, and a waddling gait.	false
+e49b2da05a6b6ed3f6bb64e4b5efb2b088b3a961	Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 @PHENOTYPICFEATURE$ show milder phenotypic manifestations and milder @DISEASE$.	false
+477017251b4986511e2b67cae255653ca536dcba	Constricted maxilla and mandible, scoliosis, bowed radii, @DISEASE$, acromicria and @PHENOTYPICFEATURE$ with mental retardation--a new autosomal recessive syndrome?	false
+2ba2060a9d205e79367b3e7bc514ade954b7effe	Multiple congenital synostosis of the upper limb associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+26988771a053d42043c71bb41b560733113148b9	A 14 year old boy with proximal focal femoral deficiency (PFFD) on left side, contralateral hip dysplasia in association with @DISEASE$ and @PHENOTYPICFEATURE$ was seen our clinic one year ago.	false
+4d2fadb1be6465686ac94d87a0b7017c5927c26c	The main features were polyhydramnios; low birthweight; dwarfism; @PHENOTYPICFEATURE$; abnormal ears; microretrognathia; microstomia; microglossia; glossoptosis; webbed neck; severe cardiac defects; radial and @DISEASE$; radial deviation of the hands; brachymetacarpalia; thumb hypoplasia; clinodactyly and hypoplasia of the 5th finger; simian creases; fibular and tibial hypoplasia; talipes varus with hypoplastic heels; wide gap between 1st and 2nd toes; and delayed bone age.	false
+ff6c96a78cdf853a13cf5f108f71e86b7e5eb2ac	@DISEASE$ (XLMTM) is an isogenic muscle disease characterized by progressive wasting of skeletal @PHENOTYPICFEATURE$, and premature death of affected male offspring.	false
+ebb0ae1df25465b4e802f60b7260a1f694b4a90a	@DISEASE$ is characterised by neonatal hypotonia, @PHENOTYPICFEATURE$ and respiratory distress in affected males, leading often to early death, although prolonged survival is observed in milder forms, or as a result of prolongation of ventilation support.	false
+01abacf393403be14bfd3de27d3c38a4f18e9c08	@DISEASE$ (XLMTM) is a severe congenital disorder characterized by marked @PHENOTYPICFEATURE$ and hypotonia.	false
+0b621312c5cce040a89aea0035bd9ce75137b90d	@DISEASE$ (MTM1) is a severe congenital myopathy characterized by hypotonia, @PHENOTYPICFEATURE$, and associated respiratory insufficiency.	false
+3c768cec88d43ae820bbce5474222ada2bd228d8	After adjuvant chemo- and/or radiotherapy secondary @PHENOTYPICFEATURE$ resection was done in 17% of TGM and 41% of @DISEASE$ patients.	false
+a08d7c83b0329727492ecdf5349769f070e054af	Ultrasound Thermal Chemotherapy (UTC) method was used to investigate the mechanism of apoptosis of @PHENOTYPICFEATURE$ cells induced by ultrasound thermal therapy combined with thermosensitive drug in Mice Tumor Model (@DISEASE$).	false
+9f71e09f4c0e26c4f85b21f07849d67d49bc69c6	At present, the boy is in complete remission 2,5 years after treatment for the second @PHENOTYPICFEATURE$ Among 32 children with parameningeal neoplasms 11 patients died (nine with @DISEASE$ and two with lymphoepithelioma), all in the phase of disease progression (five NR and six after relapse).	false
+af343e7915b94ff452431dc238bb3929e28c5555	@DISEASE$ (XLMTM) is a form of the severest congenital muscle diseases characterized by marked @PHENOTYPICFEATURE$, hypotonia, and feeding and breathing difficulties in male infants.	false
+858b78f8fe41a63450d72e1e7c14a85d6d3b8cc6	Most of he @DISEASE$ @PHENOTYPICFEATURE$ (11/17 - 65%) were localized in the urinary tract, the remaining six developed within pelvic muscles.	false
+ab05ce687fe544df982515fa2a72df484c4c8f50	@PHENOTYPICFEATURE$ oral candidiasis in patients with controlled @DISEASE$ and complete dentures.	false
+25536a0dd6753c3faea3c5d4609fac5d1ed0f53f	These changes are associated with health complications, including @DISEASE$, atherosclerosis, dyslipidemia, thermal dysregulation, and @PHENOTYPICFEATURE$, particularly in advanced old age.	false
+dfe5bc20281f972b8fb7bfb869cf54604dccba60	@PHENOTYPICFEATURE$, microangiopathy and UKPDS risk in @DISEASE$.	false
+dcb3a84f4de63bc7ff8f346c48cfcc3b38cbb46d	Obesity is a determinant of arterial stiffness independent of traditional risk factors in Asians with young-@PHENOTYPICFEATURE$ @DISEASE$.	false
+70aac7975871a188818100c13404cdd4a6373c6c	@PHENOTYPICFEATURE$ and its association with metabolic syndrome and endothelial function among patients with @DISEASE$.	false
+43becee581ceda6f1b14a44b58ab474fca2755a4	@PHENOTYPICFEATURE$ and onset of @DISEASE$.	false
+651aa6834b575d412f801727e2ca162523766f04	@PHENOTYPICFEATURE$ is highly prevalent in @DISEASE$.	false
+d07df9633ed861b494ecd1543b8bc02e95b6c590	@PHENOTYPICFEATURE$ and quality of life in @DISEASE$ patients: a serious problem too often overlooked.	false
+94cd50ad30c98ba7287273c49b63f4cabbae3f30	@PHENOTYPICFEATURE$ and glucoregulation in patients with @DISEASE$.	false
+0d32c2ccef9d6c8623bff7910e22ff84b4a9ad33	@PHENOTYPICFEATURE$ and @DISEASE$ in northern Pakistan.	false
+8e915d8a1a03f646247f56849ae47e8c8d3195cd	Vision was improved postoperatively in 88 of the 94 eyes, including all of those that underwent blunt trauma or @PHENOTYPICFEATURE$ extraction, those with @DISEASE$ and Terson's syndrome, and those in the idiopathic and miscellaneous groups.	false
+f731b8aac76b6e9b802d32cfe108a7bb32044fab	@DISEASE$, aneurysms, and neuroretinitis (IRVAN) syndrome is a rare entity with a potentially @PHENOTYPICFEATURE$ prognosis.	false
+fcf0acfdb646f0c34665ceb5cab66066eece2cc8	Two common causes of @PHENOTYPICFEATURE$ in @DISEASE$ (RV) are retinal ischaemia and cystoid macular oedema.	false
+b7c25dd2af750955d5d501a955386ea57e4dc89f	The retinopathy included: diabetic retinopathy, ischemic retinal vein occlusion (IRVO), central serous chorioretinopathy (CSC), retinal periphlebitis (@DISEASE$) and @PHENOTYPICFEATURE$/holes.	false
+1c98228f50d4e0913dd8a0eae5c9bace743bcc9b	The objective of this study was to present a previously unknown association of @PHENOTYPICFEATURE$ and Meniere-like vestibuloauditory symptoms in @DISEASE$ (idiopathic retinal vasculitis) and to give a survey of other conditions affecting both the retina and inner ear.	false
+2196922b47dc8dd55f2dea30afc8a7e1fe9f8765	The objective of this study was to present a previously unknown association of @PHENOTYPICFEATURE$ and Meniere-like vestibuloauditory symptoms in Eales' disease (@DISEASE$) and to give a survey of other conditions affecting both the retina and inner ear.	false
+b8fa55b5bfe2a49e68ed23e4cd18c7e295b0ade8	We present a case of a 32-year-old woman with @DISEASE$ (Eales' disease), rubeosis iridis, and @PHENOTYPICFEATURE$ in the left eye from cystoid macular oedema.	false
+ac1815836b69f275f0069c2d3025d34d28ed8b82	We present a case of a 32-year-old woman with idiopathic retinal vasculitis (@DISEASE$), rubeosis iridis, and @PHENOTYPICFEATURE$ in the left eye from cystoid macular oedema.	false
+fefb2be96b97a0104a9f70cfdc5e1d6bae528016	@DISEASE$, aneurysms and neuroretinitis (IRVAN) syndrome is a disease characterized by multiple retinal macroanurysms, neuroretinitis and ischemia in peripheral vessels, which are difficult to diagnose and cause @PHENOTYPICFEATURE$ if delayed.	false
+d2cce46f4a04a26f3502a7ef0ff13b95d07afc19	Total antioxidant capacity in @DISEASE$, uveitis & @PHENOTYPICFEATURE$.	false
+2b4692efd766779eb6363520b672263bdf7149c1	These included one patient with @DISEASE$ and panuveitis, one patient with intermediate uveitis, one patient with chronic juvenile anterior uveitis, three patients with scleritis, and one patient with scleritis and peripheral ulcerative @PHENOTYPICFEATURE$.	false
+56fc5ed2653f8c82a40dde0e2825fb8a25f2537d	@DISEASE$, aneurysms, and neuroretinitis (IRVAN) syndrome is a disease characterized by multiple retinal macroaneurysms, neuroretinitis and peripheral capillary non-perfusion, leading to irreversible @PHENOTYPICFEATURE$.	false
+ad3b3aadc0dff57f4ed06759508f4af9a369c7db	The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial @PHENOTYPICFEATURE$, heart defects, hypomastia, cleft palate/@DISEASE$, progressive scoliosis, and structural brain abnormalities.	false
+09cc59eb3ddfb2176eb5ed0feace772dddeab7ce	We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, @DISEASE$, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.	false
+ddf3bbb4025cbaf4d09d2749124071f195200d79	There were 25 isolated @PHENOTYPICFEATURE$ that were observed periodically: 7 carotid, 3 tympanic, 9 jugular and 6 vagal @DISEASE$ jugular tumours were irradiated.	false
+9c53ffe40404f6b636b0ab898075d24ac3f0d7dc	There were 25 isolated tumours that were observed periodically: 7 carotid, 3 tympanic, 9 jugular and 6 vagal @DISEASE$ jugular @PHENOTYPICFEATURE$ were irradiated.	false
+d61e07c2af4bb62a954f0f44f79cecf2eba01213	Mutations in the X-linked gene encoding Methyl-CpG-binding protein 2 (MECP2) have been associated with neurodevelopmental and neuropsychiatric disorders including Rett @DISEASE$ syndrome, severe neonatal @PHENOTYPICFEATURE$, and Angelman syndrome.	false
+e13d065987dcd1ba829e0c2e2b03bdf2422c318a	Furthermore, we demonstrated that the expressions of IL-6 mRNA and TNF-alpha mRNA were markedly up-regulated in spleens from mice treated with a high dose of ABPS by RT-PCR reactions, suggesting that the low dose of @DISEASE$ inhibits @PHENOTYPICFEATURE$ growth via its effect on tumor cell cycle distribution, rather than activation of NK activity as previously suggested.	false
+3d66fe9982da8be101d2e3ddbdb74d16ef351c69	Furthermore, we demonstrated that the expressions of IL-6 mRNA and TNF-alpha mRNA were markedly up-regulated in spleens from mice treated with a high dose of ABPS by RT-PCR reactions, suggesting that the low dose of @DISEASE$ inhibits tumor growth via its effect on @PHENOTYPICFEATURE$ cell cycle distribution, rather than activation of NK activity as previously suggested.	false
+d19a0e5e40d96810062efb1380e566678b2db507	The main reasons of misdiagnosis in @DISEASE$ patients were: atypical symptoms, variety of predisposing diseases, early atypical imaging changes, limitations and misunderstandings of screening indicators, interference with @PHENOTYPICFEATURE$ markers, and the presence of pulmonary aspergillus overlap syndrome.	false
+4d934b86d6e0e17f278004e16f12d5640ff726f9	Dendritic cells (DC), which were stimulated with @DISEASE$ and/or @PHENOTYPICFEATURE$ antigen SW480, were co-cultured with cytokine induced killer cells (CIK) to test the cytotoxic effect on colon cancer cell line SW480.	false
+72f32f1e7d8f60c29cc92d0a7d57c97ead292ea3	We postulate that the stimulation of @PHENOTYPICFEATURE$ growth by high dose of @DISEASE$ is associated with dysfunction of NK cell and up-regulation of IL-6 mRNA and TNF-alpha mRNA expression in murine spleen.	false
+4e97cef273962cf232d73f8af3f3ddd173eaa603	Out of three patients with @PHENOTYPICFEATURE$, one patient had severe visual impairment caused by @DISEASE$ and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had Rieger's anomaly.	false
+508dfb56396b679e63f2dc5d2d90e68f3457bcd4	Congenital systematized basaloid follicular @PHENOTYPICFEATURE$ with @DISEASE$ and hemimegalencephaly.	false
+a2ddb4c1104be35e37f985bae241a2568ccdfa6c	A new method for measuring bone mineral density (@DISEASE$) of the tarsal and metatarsals is described using volumetric quantitative computed tomography (VQCT) in subjects with diabetes mellitus and @PHENOTYPICFEATURE$.	false
+ec5586542f033c4ee0534c8de8a3e008d35471eb	We demonstrate, in a premenopausal population of infertile women, evidence of morbid accompaniments to VMS, including @PHENOTYPICFEATURE$ and evidence of low @DISEASE$.	false
+9cd934a76ef17bd8cb11c2fe53eb722aaecd950a	No significant correlation was observed between the apnea hypopnea index, the Epworth @PHENOTYPICFEATURE$ Scale scores, desaturation index, and @DISEASE$ parameters (all for p > 0.05).	false
+06b29c808da1ddc9bd142caf42421e6396f952c5	However, in contrast to diabetic nephropathy and @PHENOTYPICFEATURE$, which are associated with low bone mineral density (BMD), little is known about the association between @DISEASE$ and diabetic retinopathy.	false
+6f726fcef2cfdadd16966c906a6035fe1bc26f7b	However, in contrast to diabetic nephropathy and @PHENOTYPICFEATURE$, which are associated with low bone mineral density (@DISEASE$), little is known about the association between BMD and diabetic retinopathy.	false
+cdf728f3b3d0466f096eba9f99a7df1108caab8a	after adjustment for age, femoral neck @DISEASE$, falls, @PHENOTYPICFEATURE$, physical activity, and prior fracture.	false
+1034083667eee038019d7cf852f1a03dfc43bbb1	To determine local and systemic markers of inflammation and bone mineral density (@DISEASE$) in the foot and central sites in participants with diabetes mellitus and @PHENOTYPICFEATURE$ (DMPN) with and without acute Charcot neuropathic osteoarthropathy (CN).	false
+0f5c0ad4e28f9aa0884e8e2bb7cc293386f5391a	To investigate whether @PHENOTYPICFEATURE$ (PN), as part of the microangiopathic complex, affects bone mineral density (@DISEASE$) of the peripheral or the axial skeleton in patients with type 1 diabetes.	false
+5b63c5f7169df57b800b60e07a4bce69f73497ef	From the observations of different research groups reporting on reduced bone mineral density (BMD) and on a pronounced tendency for kidney stone formation, both in HIV-infected patients, and from results achieved in the treatment of severest @PHENOTYPICFEATURE$ with lasers, it is concluded that nanobacteria (NB) could actively contribute to the reduction of @DISEASE$.	false
+fc5d98171c9c7fa5b22d227a4a04f137ae6473f4	From the observations of different research groups reporting on reduced bone mineral density (@DISEASE$) and on a pronounced tendency for kidney stone formation, both in HIV-infected patients, and from results achieved in the treatment of severest @PHENOTYPICFEATURE$ with lasers, it is concluded that nanobacteria (NB) could actively contribute to the reduction of BMD.	false
+d45f6902e76065856020318429592c3d082eacd8	The purpose of this study was to assess tarsal @DISEASE$ associated with acute inflammation (ie, inflammatory osteolysis) in individuals with chronic diabetes mellitus (DM), @PHENOTYPICFEATURE$ (PN), and recent-onset neuropathic (Charcot) arthropathy (NCA) of the foot.	false
+9c7a71129f523a97e81c2fa2aeff7f52de64e373	Also no correlation was found between @DISEASE$ and blood tests, HCV/@PHENOTYPICFEATURE$ status, BMI and smoking.	false
+b85b2e90af162ff3e297947f8a65bd02a94c604c	Twelve coxa vara; 4 malunion femeral neck fracture, 4 congenital @PHENOTYPICFEATURE$, 2 @DISEASE$ and 1 multiple epiphyseal dysplasia were operated on in 11 patients.	false
+54478b2f01c5c5aec90d85ab5a1fed33344b44e4	Twelve @PHENOTYPICFEATURE$; 4 malunion femeral neck fracture, 4 congenital coxa vara, 2 @DISEASE$ and 1 multiple epiphyseal dysplasia were operated on in 11 patients.	false
+53389068a604e6b99fa7f918de4d90953500b839	Thus, this boy combined the syndactyly-@PHENOTYPICFEATURE$ phenotype of Greig cephalosyndactyly syndrome with a severe form of @DISEASE$ caused by the structural defect in type II collagen.	false
+682bd1f6d7a3455688831e4d2b8647d6ca54704e	Children with @DISEASE$ present with a disproportionate short stature, platyspondyly, scoliosis, @PHENOTYPICFEATURE$, and clubfeet.	false
+b628627747f413323449ee21c6636c545600d1a5	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, @DISEASE$ (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+7252b4285027540d3ac680d7c234062a8db33d3f	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, @DISEASE$ (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+d33a318bca4044f56f973fe18120bcefcca05863	Three sibs, the offspring of first cousin Pakistani parents, are reported with an apparently 'new' form of @DISEASE$ with @PHENOTYPICFEATURE$, unusual facies and moderate developmental delay.	false
+5a5a60806fed9f75f23ba4b81ea8485e65f875ac	One @DISEASE$ had bilateral @PHENOTYPICFEATURE$.	false
+2b609f941cbb025864bdff2091b1b0d4adef3581	Specific final diagnoses included thanatophoric dysplasia (8), osteogenesis imperfecta (6), Roberts syndrome (2), achondroplasia (3), Ellis-van Creveld syndrome (1), @PHENOTYPICFEATURE$ (1), @DISEASE$ (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1).	false
+1627e9039735e5fcd7ece6b0d4d983e81bbabb5b	Implications of water channel proteins in selected neurological disorders: epilepsies, @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis, @DISEASE$, Parkinson's disease, and spongiform encephalopathies.	false
+84412d44fcb0d6ce207de9c8338b406ed081a8cb	Recently, the AQP4 molecule has been increasingly highlighted in its pathophysiological role of several neurological diseases, such as stroke, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cf319c0309fb258e5f50065127d023b1c0dc17bf	The patient probably had @DISEASE$ with dextrocardia (confirmed by chest radiograph), horseshoe kidney (confirmed by 99Tcm DTPA scintigraphy), and @PHENOTYPICFEATURE$ (confirmed on the HIDA scan).	false
+940b31e2f90b643ab07052aac89b838cad6f5f9d	@DISEASE$ adn @PHENOTYPICFEATURE$.	false
+48f8178a87d8bd44f785c90abb2275653136d5ed	Of 16 family members studied, positive PCA was found in 3 members (2 in the families of patients with PCA positive @DISEASE$, and 1 in the family of the patients with PCA positive partial @PHENOTYPICFEATURE$).	false
+8d5d627d6bc768752da11f18dec88c575a532540	Although its exact mechanism is unclear, anaemia is well recognised as a feature of @PHENOTYPICFEATURE$; and anaemia is associated with @DISEASE$ (SS).	false
+450d559c8eb96bc7dd301d65efec8b8be4bc0c0d	Tissue necrosis could release sequestered antigens, triggering autoimmunity of the pituitary and delayed @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7f067d9b00f57d9068c2a5a5c4fe646b2b19e302	Positive PCSA was found in 4 members (one in each of families of patients with partial @PHENOTYPICFEATURE$ and isolated ACTH deficiency and of two cases of @DISEASE$), and weakly positive PCSA was found in one family member of a patients with PCA positive Sheehan's syndrome.(ABSTRACT	false
+6ee68d19599bc5e8f9f4aa9424e0b50360e8f4c1	In addition, @PHENOTYPICFEATURE$ and @DISEASE$ are increasingly being reported in association with aPL.	false
+a9f70758af1de4aca01894d0a50a84180cae0771	Pituitary disorders namely Cushing's disease; acromegaly; prolactinoma; TSH-secreting, gonadotropin-producing, and clinically nonfunctioning adenomas; craniopharyngioma; and @DISEASE$, which is one of the most common causes of hypopituitarism, lymphocytic hypophysitis, and @PHENOTYPICFEATURE$, in relation to pregnancy are discussed.	false
+a0b8feed389b8fbfb3dc2edf5f835c65c5576aff	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (@DISEASE$) developed metabolic syndrome, which combining obesity, type 2 diabetes, @PHENOTYPICFEATURE$ and mixed hyperlipidemia.	false
+0060f1b8d758566d591daeeb2ff8debb2c5fd169	In 16 family members of 5 patients (each 1 with partial @PHENOTYPICFEATURE$ and isolated ACTH deficiency syndrome, and 3 with @DISEASE$), APA in their sera were investigated.	false
+fa4b7949f5cac82e4cf64da68d4e8f53ac9936c1	@DISEASE$ (SS), which is an important cause of @PHENOTYPICFEATURE$, is common in developing countries.	false
+88073ff9a84e33527e345bfae6be9251e26f2295	@DISEASE$ with intracranial hemorrhage and @PHENOTYPICFEATURE$ associated with mutations in exon 49 of COL1A2.	false
+8f1dcb6ccc4041f683067adb9bb8060beba5b73b	At this time SHRINE implementations have been used for multi-site studies of @PHENOTYPICFEATURE$ co-morbidity, juvenile idiopathic arthritis, @DISEASE$, colorectal cancer, diabetes, and others.	false
+d446a80bc391d406e20d4ed1bdfbc37a4f5261ef	@DISEASE$ are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from mental retardation to @PHENOTYPICFEATURE$ and epilepsy.	false
+3f4559cdb2a65081759dac2bd0d2349a49bf7f0a	Malformations of cortical development (@DISEASE$) are frequently associated with neurological conditions including mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+046ae9b00e9eac7824a63ea8987f1ef850e9bdd4	Malformations of cortical development (@DISEASE$) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, @PHENOTYPICFEATURE$ and motor dysfunction.	false
+d3b9e56a073cebbc33fefc4f5353c405991d7abe	Malformations of cortical development (@DISEASE$) are one of the most common causes of neurological disabilities including @PHENOTYPICFEATURE$ and epilepsy.	false
+41b502297eb88ef67859eb0207183f1d91b5de4f	The renal tissue from patients with MGN, @DISEASE$, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, @PHENOTYPICFEATURE$ nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.	false
+5eccd28688e0e755ab464cdf9f03913cadc74fef	Malformations of cortical development (@DISEASE$) usually manifest in childhood with epilepsy, developmental delay and focal @PHENOTYPICFEATURE$.	false
+513e0b5bb2adfc1014a3ea5873fbb106c32eb1cb	encephalopathy is also frequently associated with @PHENOTYPICFEATURE$, cortical visual impairment and @DISEASE$ revealing novel phenotypic consequences of channelopathies.	false
+3c4a865aaaa6678872289f2e75ebcc7bb755f2e8	Cardiac @PHENOTYPICFEATURE$ and its consequent metabolically induced coronary vasodilation (@DISEASE$) were studied in isolated, perfused, electrically paced rat hearts.	false
+434d50226a51f96b4454b94f39a3b4b03196fa8c	The assay proved useful (1) in monitoring for the recurrence of a mineralocorticoid-secreting @PHENOTYPICFEATURE$ and (2) when adrenal production of DOC was not fully suppressed in @DISEASE$.	false
+022edd0deba043f08d19149adb76616cd5a4ff5b	Mutation of Trop2 leads to @DISEASE$, whereas over-expression of Trop2 in human tumours promotes @PHENOTYPICFEATURE$ aggressiveness and increases mortality.	false
+25ad2308bbd2f6aff37b1286cc4f7c9c4631f8ac	Mutation of Trop2 leads to @DISEASE$, whereas over-expression of Trop2 in human @PHENOTYPICFEATURE$ promotes tumour aggressiveness and increases mortality.	false
+252841268fa600fb10bf2e3892a411d7ddd57dcd	In patients with disorders that mimic @DISEASE$, @PHENOTYPICFEATURE$ may point to the correct diagnosis.	false
+eebcc8ff856b92fba66ebb2e25601887dbd20d05	@PHENOTYPICFEATURE$, dysphagia and supplement intake in patients with @DISEASE$ (ALS): impact on quality of life and therapeutic options.	false
+22b69c3beb7df6136840f8ea1db2504d61e26d83	@PHENOTYPICFEATURE$, dysphagia and supplement intake in patients with amyotrophic lateral sclerosis (@DISEASE$): impact on quality of life and therapeutic options.	false
+dfb88fbd7aba640572c47890d06dfa8bcd79b85f	@PHENOTYPICFEATURE$ and @DISEASE$, two kindred diseases?	false
+b47bf10f69e8307a2b62674a7ecc5830f4ad9d83	Palpebral @PHENOTYPICFEATURE$ as the initial symptom of @DISEASE$.	false
+28a2e8a61415f5905e1e5de07a33786ef49c59ca	@PHENOTYPICFEATURE$ as cortical damage with @DISEASE$.	false
+4180bb011832bae1656d6a86bffbffa6c7a37cbc	Sporadic @DISEASE$ subtypes show different patterns of @PHENOTYPICFEATURE$.	false
+8b03ef5558fd9986f46a52317f73754de9b72db5	Executive dysfunction is a core feature of @DISEASE$ (ALS) and is associated with @PHENOTYPICFEATURE$ in cortical and subcortical regions.	false
+e08c1e84852ed74ec47e8b01b0e3f0d050738155	Executive dysfunction is a core feature of amyotrophic lateral sclerosis (@DISEASE$) and is associated with @PHENOTYPICFEATURE$ in cortical and subcortical regions.	false
+d647d1c2faba1ec2a3a9b81fd2550e54c23b649d	@DISEASE$ patients and ocular @PHENOTYPICFEATURE$.	false
+99f5a63b44be5228ed0e05c916ebdbec713f31e3	These @PHENOTYPICFEATURE$ may be a marker of neuro-degeneration beyond motor neurons in @DISEASE$, especially in bulbar-onset disease.	false
+3d07bb3edb8010395185af1f8b54340c38f833e3	@PHENOTYPICFEATURE$ is a frequent feature in the motor neuron disease Amyotrophic lateral sclerosis (@DISEASE$).	false
+c9620d28bc4aceab9d823232f25c88fdb9649984	@PHENOTYPICFEATURE$ is a frequent feature in the motor neuron disease @DISEASE$ (ALS).	false
+fd8c8a8e1cf5b8d5f38f352e2f37ade471cab9ad	To compare corneal endothelial damage after @PHENOTYPICFEATURE$ surgery in eyes with low endothelial cell density (@DISEASE$) and eyes with normal ECD.	false
+f0ba537bd5b133ed141e908f081f855271e7b061	To compare corneal endothelial damage after @PHENOTYPICFEATURE$ surgery in eyes with low endothelial cell density (ECD) and eyes with normal @DISEASE$.	false
+0c44e6b50c7647d5f60e413b3c929e32702d6b56	Modification of preoperative age-related ECD thresholds is indicated to maintain an @DISEASE$ that warrants safe future combined pIOL explantation and @PHENOTYPICFEATURE$ surgery.	false
+97b4f5d000e9e687b5629fe51307a17da452b677	Modification of preoperative age-related @DISEASE$ thresholds is indicated to maintain an ECD that warrants safe future combined pIOL explantation and @PHENOTYPICFEATURE$ surgery.	false
+79468fd01362671255441ab2d738a33670daeb17	Patients with @PHENOTYPICFEATURE$ had lower levels of @DISEASE$ than the corresponding normal population.	false
+2a2051110c7b6f8ee2de3a748d96b49885dfb7cb	To investigate the effect of postmortem intervals and prognostic factors on endothelial cell density (@DISEASE$) of human donor corneas during preservation and at 1 and 3 years after transplantation in patients transplanted for @PHENOTYPICFEATURE$.	false
+8479de61ad1556cc9940fbdfb70966b12e0104c0	Long-term (?10 years) changes in visual outcome and @DISEASE$ after uncomplicated @PHENOTYPICFEATURE$ surgery were evaluated.	false
+8567b8af783a7e87874622ade71ded359618a12b	However, it has a statistically significant effect on the ECL after transplantation for patients transplanted for @PHENOTYPICFEATURE$, and therefore, it becomes eligible to be one of the potential factors affecting the @DISEASE$ apart from surgical trauma.	false
+7faaf86ee70492204e316fe44fec5633e4224529	Comparison between procedures of mean @DISEASE$ loss for moderate/hard @PHENOTYPICFEATURE$ was significant (P?= .043).	false
+ed58c0341a80ba839506049d9d8486882ac88bf0	With modern small incision cataract surgery, the @DISEASE$ loss varied with surgical invasions due to severe @PHENOTYPICFEATURE$ and shallow anterior chamber, and the presence of PEX was least affected.	false
+7999599b89a42957a6e0e4a51b77a535a81160cd	With modern small incision @PHENOTYPICFEATURE$ surgery, the @DISEASE$ loss varied with surgical invasions due to severe cataract and shallow anterior chamber, and the presence of PEX was least affected.	false
+85cc38c88614e5b03f72bf139e63fcd4c1656546	One-month @DISEASE$ was influenced by donor counts and combined @PHENOTYPICFEATURE$ surgery.	false
+11264d04bda6cb809247d8c6c9065217cc40da11	Age, race, ocular surgery (@PHENOTYPICFEATURE$ and refractive), and DM seem to significantly affect donor corneal @DISEASE$.	false
+4f591e1e12851c370038db10a8582625e18acc7d	The WRN gene is known to be expressed within the central nervous system, with @DISEASE$ associated with several neuropathological abnormalities including @PHENOTYPICFEATURE$, gliosis and extensive cytoskeletal abnormalities.	false
+7f40b118e27c49c7d9e8434d00c4219324c872e6	This review illustrates the main radiographic features of @DISEASE$, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, @PHENOTYPICFEATURE$, osteitis and osteomyelitis, and bone or soft-tissues malignancies.	false
+5fcca98d34fadd84ca98903013cc9c0303c99c2d	@DISEASE$, described in 1911 by Lafora and Glueck, is an autosomal recessive hereditary clinical-pathological entity, which begins at the end of childhood or during adolescence, presents atypical absences, generalized and atonic tonic-@PHENOTYPICFEATURE$, which can evolve to the epileptic state.	false
+3b893462144a70960af11b51a562822b66eb5c46	@DISEASE$, described in 1911 by Lafora and Glueck, is an autosomal recessive hereditary clinical-pathological entity, which begins at the end of childhood or during adolescence, presents @PHENOTYPICFEATURE$, generalized and atonic tonic-clonic seizures, which can evolve to the epileptic state.	false
+959ab3efc6d9ab8aa88da99659a90857c4820ee9	@DISEASE$ and subacute presenile dementia in heredo-@PHENOTYPICFEATURE$.	false
+33e34d1e6bb296846b6304369dc4ca99950c5a67	Peroneal muscular atrophy with @PHENOTYPICFEATURE$ and partial @DISEASE$.	false
+489ca801042ea15b2506658ae693a025dafd5034	Rapidly progressive cerebral degeneration (subacute vascular @PHENOTYPICFEATURE$) with mental disorder, focal disturbances, and @DISEASE$.	false
+07f0bcf455558625fd5260b038be24dd35d3ddc9	Rapidly progressive @PHENOTYPICFEATURE$ (subacute vascular encephalopathy) with mental disorder, focal disturbances, and @DISEASE$.	false
+0e4cfb7540d872eb13093f6f91301456e79581a4	@DISEASE$ with ragged-red fibers is a maternally inherited disease that is characterized by myoclonic epilepsy, @PHENOTYPICFEATURE$ and progressive muscular weakness.	false
+469c2a68a95b0ea3fe1ef1bfa1460e79366c7497	Myoclonic epilepsy with ragged-red fibers is a maternally inherited disease that is characterized by @DISEASE$, @PHENOTYPICFEATURE$ and progressive muscular weakness.	false
+6e419c00f5e32a77764aefa7efb445d4fe4847af	Her daughter had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c3f3e326ee886c29ba936b020d35ef6734ea7231	@DISEASE$ or neonatal myoclonic @PHENOTYPICFEATURE$ 2. Early epileptic syndrome with bursts of suppression or Otahara's syndrome.	false
+4adfdaf8b35c8519a4ab2bf6cfdce81e900fe7de	Clinical @PHENOTYPICFEATURE$ manifestations in a case of @DISEASE$.	false
+323d55efa4d3b1b74af5fc8557a24901ee36d2af	During the final stage of disease, generalized, tonic and clonic seizures, absence and @DISEASE$ as well as Jackson's @PHENOTYPICFEATURE$ were observed.	false
+f9b5de563086af69280bcf8046f9d63489355edc	In another patient with infantile idiopathic @DISEASE$, @PHENOTYPICFEATURE$ disappeared for 30 months.	false
+dc04678abb8c934ab2b87559e63b83fbdb850d4d	An improved appreciation of the nature and extent of @PHENOTYPICFEATURE$ in @DISEASE$ should assist clinicians when undertaking management of affected individuals.	false
+63797fd96b982669aa315d9d88185bf8a020c36c	They included @DISEASE$, radiation therapy for pilocytic astrocytoma, @PHENOTYPICFEATURE$, von Recklinghausen disease and Down syndrome.	false
+b0fb18fc13f08a95fbd8804c12abba12ea0bb819	Apparent @DISEASE$ with @PHENOTYPICFEATURE$: rare pleiotropic manifestation or new syndrome?	false
+821eb4fe94bfc07af9c639a1e83c09a41d5e40da	Two of the patients had @DISEASE$ (syndromic craniosynostosis with symmetrical syndactyly) and two had @PHENOTYPICFEATURE$.	false
+0968d054e00d5ffe662e48e9ed6d008b05a9b549	We report a patient with a rare form of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+785261586353ee7eaabf518fdec7f50c4f64c7b6	Perianesthesia Phase I nurses indicated high encounters, competency, and recent training for all topics except for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7a76c841bd42b96e8f09db49eb4937b4f0e9b202	Our results suggest that osteogenesis at the distraction site may be quicker in patients with @DISEASE$ than in those with @PHENOTYPICFEATURE$.	false
+2ebc116344b1392598a574490b4534e0070b519f	@PHENOTYPICFEATURE$ was associated with more frequent @DISEASE$ episodes (0.39 vs 0.20 events per patient year, P < .001)	false
+9539d30ceb316a0a526da9db393b017825dd2f11	Case report of young patient with @DISEASE$-producing @PHENOTYPICFEATURE$ is presented.	false
+acad4ffdfe0a0354c07b20a07c3107ed3f9685bd	@DISEASE$ with partial post-axial @PHENOTYPICFEATURE$ and unilateral choanal atresia.	false
+5ae8c78b84cc54dc5998ce91c0472ab852f20805	Three (6.8%) girls with @DISEASE$ had height-for-age Z-scores <-2 (@PHENOTYPICFEATURE$).	false
+f999b913a693d231eca575e46d3f9d679fa28623	@DISEASE$ and common variable @PHENOTYPICFEATURE$.	false
+5b82b76133da37be70a045b013d3db1cffd90ece	An 11-year-old boy presented with fever, skin rash, joint pains and vertical @PHENOTYPICFEATURE$, and was found to have a right Brown's syndrome and systemic onset @DISEASE$ (JRA).	false
+7fcb8a79b1c918bb0bcde964ba8dc70c1ca56380	About 65% of children suffering from @DISEASE$ (JIA) shows a more or less marked involvement of temporo-mandibular joint (TMJ) with altered mandibular growth, resorption of the condyles, occlusary instability, reduced chewing ability and @PHENOTYPICFEATURE$.	false
+28031b8b13a57ea56041a0b5fd493c1f70826349	Evaluation of growth hormone secretion in children with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+62136755deb315e8dd5538cbd77d0619605e69c6	Detection of IgM rheumatoid factors by enzyme-linked immunosorbent assay in children with @DISEASE$: correlation with articular disease and @PHENOTYPICFEATURE$.	false
+6abbefa92c1daa6b2c7dff9736d101ce1df3d33b	@DISEASE$, the most common connective tissue disease occurring during childhood, is characterized by chronic arthritis and may be associated with disability and @PHENOTYPICFEATURE$.	false
+0580e8c88b9ec5b20e4fe9f3953ad599805b7047	The specific cause of @PHENOTYPICFEATURE$ in @DISEASE$ (JRA) is unknown.	false
+022b6ca09854a6970acfe14824fdb31e84f95269	Children with @DISEASE$ (JIA) often have impaired growth and @PHENOTYPICFEATURE$.	false
+d482b0645b1455adfaace2094ccad690758b9abc	Seven out of 18 patients with refractory @DISEASE$ treated with etanercept demonstrated growth retardation leading to @PHENOTYPICFEATURE$.	false
+d7d443638a632390045bc5b8d83f74a18fcd908a	Magnetic resonance imaging, magnetic resonance spectroscopy, and @PHENOTYPICFEATURE$ in a case of @DISEASE$ with novel OCRL1 gene mutation.	false
+0ed6323f08df97f12a129121c695068c6692f7b5	In follow-up (mean, 48+/-3 mo), non-OCR patients were more likely to receive any shock, shocks during exercise, or shocks for @PHENOTYPICFEATURE$ during exercise than @DISEASE$ patients (all P<.05).	false
+42d4da4e263e00e3757c439130b6c30235fb3e77	@DISEASE$ is an X-linked disorder that has a complex phenotype that includes progressive renal failure and @PHENOTYPICFEATURE$.	false
+bec7eabb4ac7e593ebfef6a8486676290f6790b8	In female patients with moderate to severe acne, facial @PHENOTYPICFEATURE$ of scalp hair and irregular periods, @DISEASE$ should be considered and appropriate treatment with hormonal modulation given.	false
+2196eefcc8584c4b5e37ea412f653f2a4c519b3b	Apart from signs of hyperandrogenism such as acne, hirsutism and @PHENOTYPICFEATURE$, women with @DISEASE$ usually present with menstrual irregularities and fertility problems.Additionally, they are often characterized by impaired glucose tolerance, which usually leads to the development of type 2 diabetes mellitus (T2DM).	false
+9f3b431445ed90ed99604bb764aac33f380e6656	Endocrinopathies, such as @DISEASE$, ovarian tumors, or adrenal hyperplasia or tumors, may be detected in some patients with acne, especially if acne is sudden in onset, associated with hirsutism or menstrual irregularities, or associated with cushingoid facies, acanthosis nigricans, patterned @PHENOTYPICFEATURE$, or deepened voice.	false
+acb87d408f478874e6786e9cd7d3844f049cce14	Unilateral massive ovarian @PHENOTYPICFEATURE$ in a woman with @DISEASE$.	false
+28d657582df9b51e26df81a079cd3f1293f913d9	Reduced cardiopulmonary functional capacity and the autonomic dysfunction associated with @PHENOTYPICFEATURE$ recovery might be responsible for the increased cardiovascular risk in patients with @DISEASE$.	false
+b5966946b1fba491b431df208f9d6a6dd2291947	A case of massive ovarian @PHENOTYPICFEATURE$ and @DISEASE$ in a 15 years old girl is being reported for its rarity.	false
+0e805008680dd0e76d78b310aef95aafbe75725d	Unilateral massive ovarian @PHENOTYPICFEATURE$ and @DISEASE$.	false
+af54dd1b0777c8c43fb1f89a28e953eba0a85245	We report a case in a 20-year-old woman with unilateral @PHENOTYPICFEATURE$ associated with the ultrasound appearance of @DISEASE$.	false
+b0a962d567a35bbc719703031e4deebb90c5ecf6	The @DISEASE$ (PCOS) is associated with various cardiac manifestations including @PHENOTYPICFEATURE$.	false
+f5dff3b6621375ed1cb270417e458c14bc9f6ac0	Clinically, the patient presented with extreme obesity, @PHENOTYPICFEATURE$, hepatomegaly, hyperinsulinism and @DISEASE$ (PCOS), which have previously not been described in CSS patients.	false
+2a6700d55746c9ad00e938b625dcdb8e79430562	The finding of a common osteocyte marker in OFD/ALB stromal cells is in keeping with a close histogenetic relationship between @DISEASE$ and ALB; this may reflect the prominence of fibro-osseous proliferation in these @PHENOTYPICFEATURE$.	false
+f0e9b50102b3d1c2dc3da1886859973f5648980e	The finding of a common osteocyte marker in @DISEASE$/ALB stromal cells is in keeping with a close histogenetic relationship between OFD and ALB; this may reflect the prominence of fibro-osseous proliferation in these @PHENOTYPICFEATURE$.	false
+2368b9bc1f5580447747322ebbf1186eb1fcd78b	Copy number variation analysis using WES data revealed distinct chromosomal alteration profiles for adamantinoma tumors compared with @DISEASE$-like adamantinomas, allowing molecular differentiation between the 2 @PHENOTYPICFEATURE$ subtypes.	false
+52d5b14de26420686b9f2687a30a5bfa860568dc	Copy number variation analysis using WES data revealed distinct chromosomal alteration profiles for adamantinoma @PHENOTYPICFEATURE$ compared with @DISEASE$-like adamantinomas, allowing molecular differentiation between the 2 tumor subtypes.	false
+b5ccc5d567f182f23284e1d800f23bcf2b29f282	In this case report, a 48-year-old man presented with a large @PHENOTYPICFEATURE$ in the right iliac region that turned out to be @DISEASE$.	false
+c7f0cfd8001174a08759b37177d97768540ee518	Podoplanin was expressed in epithelial cells and @PHENOTYPICFEATURE$ glands in ALB as well as in scattered intertrabecular stromal cells in both ALB and @DISEASE$.	false
+30c5c889713b45191635d5c1fbe736d80a1ab4c8	Strict surveillance is mandatory in @DISEASE$, with systematic biopsy in case of onset of pain or increased @PHENOTYPICFEATURE$ volume.	false
+596b577b571f325effd0cd928d241ca6e089c1da	These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated @PHENOTYPICFEATURE$, may account for the cerebellar abnormalities in this form of @DISEASE$.	false
+7d7bd68cdd2505cb5dadaaefd2be0788cb4273fc	A cystic renal lesion is described in a girl with @DISEASE$, type I. Excretory urography was normal at 1 yr of age; however, flank masses, hypertension, and @PHENOTYPICFEATURE$ were discovered at 11 yr of age.	false
+47b1b4da56da322abbcb77141719883791a93185	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+51b14f54035c10952b123cd13c0e129c0b30f2a5	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+936bba5487065a9f0799b58fe88ec63f9aa301eb	The @DISEASE$-like component may be an integral element of adamantinoma, rather than a tissue reaction to epithelial @PHENOTYPICFEATURE$ cells.	false
+1d6c683de9f2d3c4349b0dc73876a668470e44d4	Osteofibrous dysplasia (@DISEASE$) is a @PHENOTYPICFEATURE$-like bone lesion that occurs most often in the tibia, presenting as a painless swelling or anterior bowing.	false
+e58abb22d1a3398c32dd4df87f077980d5433d57	The results concluded that @DISEASE$ suppress recurrent seizures, and improves its associated behavioral impairments and @PHENOTYPICFEATURE$ in rat model of TLE.	false
+74e286f63cc7a04bd6915c3724a45711d8ceb84d	These Results suggest that MMF has better efficacy against simple renal disease than against @PHENOTYPICFEATURE$-type syndrome, and @DISEASE$ may be more suitable for the treatment of frequently relapsing nephrotic syndrome characterized by proliferative lesions.	false
+295ede51a1d66e4760eefeab2aed7411f6aafefc	The availability of wire cutters at the hospital bed or issuance of wire cutters to outpatients in @DISEASE$ should be based on a case-by-case consideration of the procedure performed, postoperative bleeding, @PHENOTYPICFEATURE$ potential, edema, airway integrity, patient dexterity, and patient compliance.	false
+45b6a16f7d37acc0cba66b1fbc06de53e85d2ebb	Results of this study suggest that the use of adjuvant IL-2R antibodies in combination with @DISEASE$ in the early peritransplantation period may be associated with early recurrence of @PHENOTYPICFEATURE$ C and more rapid histological progression of disease.	false
+ab862992f3984cfaf0f9ccba5505f3134a75b9e5	The principal adverse events associated with @DISEASE$ administration included diarrhea, @PHENOTYPICFEATURE$, leukopenia and a higher frequency of certain types of infections.	false
+630db91f3070e4e58191cfc22b22380e590936ee	Compared to control patients with arthritis and chronic pain, @DISEASE$ patients had pronounced and specific @PHENOTYPICFEATURE$.	false
+ceb5e424b064e4e47df4c18b217ca0826c53c5e0	Brain Positron Emission Tomography/Computed Tomography with (18)F-fluorodeoxyglucose (FDG PET/CT) was performed in a 44-year-old woman with marked @PHENOTYPICFEATURE$, diffuse myalgias, sensory, memory and visual disorders, and chronic fatigue, presenting with histopathological features of @DISEASE$ (MMF) at deltoid muscle biopsy.	false
+c3a1571c95f48fbdd9be96d0698030716cfe3921	The differential diagnosis includes renal tubular acidosis, @PHENOTYPICFEATURE$, @DISEASE$, Liddle syndrome and other diseases that cause hypokalemia.	false
+07d3a25f6f55600ecdf1d03cf6763796a7acb6c3	This review highlights the major factors involved in potassium homeostasis (dietary, hormonal, genetic, and physiologic influences), and discusses the major diseases and abnormalities associated with potassium imbalance including hypokalemia, @PHENOTYPICFEATURE$, hypertension, chronic kidney disease, and Gordon's syndrome, @DISEASE$, and Gitelman syndrome.	false
+87df427fa8a652cfc21ff7e778947542c0e45aa6	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+8e27b33594d33a458b8675e272a66fa9a0373a57	Severe @PHENOTYPICFEATURE$, @DISEASE$ and tubulointersitial nephritis.	false
+54b2847f2975797cc0e889d645df89a3a1d36a51	Identification of neonatal @PHENOTYPICFEATURE$ as a complication of @DISEASE$ (BS), a disorder usually characterized by hypokalemic metabolic alkalosis.	false
+589216853fa1c360958f8df3dc5d27d797120f20	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II @DISEASE$ and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+fd13f89d53ac016cdb316315229afb9e0506acb5	Although the dose, the length of the therapy and individual susceptibility may be equally important, fluid-electrolyte disturbances and the development of pseudo-@DISEASE$ seem to be more dose-dependent than cortical @PHENOTYPICFEATURE$.	false
+889247df263fa1f426c803029b90475e0c8da1e3	@PHENOTYPICFEATURE$ and hyperparathyroidism in a case of @DISEASE$.	false
+275c0a85108f4bb0bb759e724ae7c6cedcd3ab8c	We report the identification of two heterozygous mutations of the gene for Kir 1.1 (ROMK) from an antenatal @DISEASE$ patient who presented at birth with mild salt wasting and a biochemical findings that mimicked primary pseudohypoaldosteronism type 1, such as @PHENOTYPICFEATURE$ and hyponatremia, and evolved to a relatively benign course.	false
+0193d93188baa2402c959595c320dd10ecf30a56	Clinical features of @DISEASE$ included a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and digital abnormalities, whereas cognitive impairment and @PHENOTYPICFEATURE$ were variable features.	false
+5079ce0fc1ad744b9141195042550d26c4a54b1f	Broad thumbs and halluces with @PHENOTYPICFEATURE$: a patient with @DISEASE$.	false
+06eabc57f96b0f70a68596790f05dc038ef78800	The clinical presentation consists in @DISEASE$, osteopetrosis and @PHENOTYPICFEATURE$.	false
+d348407d61b0f478d8b0940b3e245a9e7b0684e1	[Carbonic anhydrase II deficiency: osteopetrosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e89c330b4b3da55dd0dc7fa69684fb79fc446d71	All the patients had @DISEASE$, osteopetrosis, symmetrical @PHENOTYPICFEATURE$ and mental retardation.	false
+b1ad28d974b4b3c6bf6045a9dc7feddd138cc853	Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include osteopetrosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5d5ee15a3800a6d2d527e61eec5c586071d169ea	Osteopetrosis, @DISEASE$ without urinary concentration abnormality, @PHENOTYPICFEATURE$ and severe mental retardation in three Turkish brothers.	false
+816b3b08b3903b2812bf989c440146fc4b7532b9	@PHENOTYPICFEATURE$, osteopetrosis and @DISEASE$: is it carbonic anhydrase-II deficiency?	false
+085080fba95a85d988e6f7cfb4e983cd686ff051	This patient showed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c0301116858ea38640365e06c6c4c18764c5747a	[Osteopetrosis, @DISEASE$, @PHENOTYPICFEATURE$: a familial case].	false
+ecd53d28184201e8343bb47d2762cb14f260f6a4	is the primary defect in the syndrome of osteopetrosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8f0340fa39674a17c2b4c7a93e8c7a92b4e4948a	Marble brain disease: recessive osteopetrosis, @DISEASE$ and @PHENOTYPICFEATURE$ in three Saudi Arabian families.	false
+3ca15e4764b14cc193bb8b6dcfdaaf9e57ce1e6d	Several other associated conditions such as sclerotic bone lesions, @DISEASE$, low-grade fever, @PHENOTYPICFEATURE$ and hematologic disorders are usually seen.	false
+aef70c5d731df38194ff776bcf057eb0aa6065b1	At the same time, a POEMS syndrome diagnosis (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin abnormalities) was confirmed in light of the following: 1) IgG ? monoclonal gammopathy, 2) axonal neuropathy, 3) osteosclerosis, 4) melanoderma, 5) hepatosplenomegaly and adenopathies, 6) @DISEASE$, and 7) @PHENOTYPICFEATURE$.	false
+e36beeefab487d1aa39ab6e3d661584b9ebc3902	To distinguish POEMS from neuropathy associated with monoclonal gammopathy of undetermined significance, additional criteria were included: a bone lesion, @DISEASE$, organomegaly (or lymphadenopathy), endocrinopathy, @PHENOTYPICFEATURE$ (peripheral edema, ascites, or effusions), and skin changes.	false
+c14ecbc3a92508506c6527cacafd2168c19fba51	Polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes (POEMS) syndrome is characterized by the presence of a monoclonal plasma cell disorder, peripheral neuropathy, and one or more of the following features: Osteosclerotic myeloma, Castleman's disease (@DISEASE$), increased levels of serum vascular endothelial growth factor (VEGF), organomegaly, endocrinopathy, @PHENOTYPICFEATURE$, typical skin changes, and papilledema.	false
+a03c48c9c7842f6ef4325ef290c2b61618997d35	Therefore, KSHV downregulation of TGF-?2 may increase aberrant vascularization in @DISEASE$ @PHENOTYPICFEATURE$ through increased capillary formation and thereby aid in KS tumor promotion.	false
+90e84b99b55d9203472fb7c97aa32a0db5d57a98	Therefore, KSHV downregulation of TGF-?2 may increase aberrant vascularization in KS @PHENOTYPICFEATURE$ through increased capillary formation and thereby aid in @DISEASE$ tumor promotion.	false
+2c59930d59a2013e0aacb02c34cec827359af5ca	Therefore, KSHV downregulation of TGF-?2 may increase aberrant vascularization in @DISEASE$ tumors through increased capillary formation and thereby aid in KS @PHENOTYPICFEATURE$ promotion.	false
+89e968548eda3261d5313f9ec75ca4459d57f9e4	Therefore, KSHV downregulation of TGF-?2 may increase aberrant vascularization in KS tumors through increased capillary formation and thereby aid in @DISEASE$ @PHENOTYPICFEATURE$ promotion.	false
+53e826d79bc712e5ffe8f17049b96880f76d472b	These latter findings support a @PHENOTYPICFEATURE$ suppressor function for KIND1, and identify c-Jun N-terminal kinase and NF-?B as potential therapeutic targets for prevention of squamous cell carcinoma in patients with @DISEASE$.	false
+d8e7e283c03b632c8557a414a40a5f358f8caad0	A key characteristic of @DISEASE$ tumors is extremely high levels of vascular slits and extravasated red blood cells, making neoangiogenesis a key component of the @PHENOTYPICFEATURE$.	false
+1a3d3f30c65b9a739ce7191ae9ff912e82fb7bcc	A key characteristic of @DISEASE$ @PHENOTYPICFEATURE$ is extremely high levels of vascular slits and extravasated red blood cells, making neoangiogenesis a key component of the tumor.	false
+40eee7363954b33fe815e47abf476579675150d0	The main @DISEASE$ @PHENOTYPICFEATURE$ cell is the spindle cell, a cell of endothelial origin that maintains KSHV predominantly in the latent state.	false
+eab244ebfbc531787292d24ca7c5e4dfda74e074	@DISEASE$ (FDH), an autosomal disorder characterized by an increase in serum albumin binding of thyroxine, has been encountered in a family who was also found to have both familial hypercholesterolemia (FHC) and multiple lipoprotein type @PHENOTYPICFEATURE$ (MLH).	false
+7f08fa18c74000fe0954627a3fa6fc986592129c	Coexistence of @DISEASE$ with familial hypercholesterolemia and multiple lipoprotein type @PHENOTYPICFEATURE$.	false
+43b3e0f288cc4805b43a9212c4af9d4740d8a620	@DISEASE$ and @PHENOTYPICFEATURE$ syndrome: clinical and instrumental follow-up of a case.	false
+e8e8514bb449c1d5b96c6701b4aacd35161951ba	@DISEASE$-@PHENOTYPICFEATURE$ syndrome.	false
+43f7da2c6551267e4aee671ac244fe8fa9fb1bbe	@DISEASE$ and @PHENOTYPICFEATURE$ syndrome: a new case.	false
+fa8e222005f3b0cdb369e8b9809d784b2c47ca6d	The spectrum of the @PHENOTYPICFEATURE$ @DISEASE$ syndrome is not fully defined.	false
+634da3e9c4ec71545808bcfd182667808f14db4f	[@DISEASE$-@PHENOTYPICFEATURE$ syndrome].	false
+56e15e0c35840d77d9cb916d619f104963027119	@DISEASE$-@PHENOTYPICFEATURE$ syndrome: an additional case.	false
+62a2fd7013886544832e6c5c9dc786d1a743e8d7	@DISEASE$-@PHENOTYPICFEATURE$ syndrome: an additional case report.	false
+d29e3de8ff84a79d77baf257219d6e20dcad19da	@DISEASE$ and @PHENOTYPICFEATURE$ syndrome.	false
+a1defabe400ff99c9730cc9d78af657e05d69ebe	@DISEASE$ and @PHENOTYPICFEATURE$ syndrome: two new cases.	false
+f00080dbb2d9da168d02ba217b9a1965c173a7ba	@DISEASE$-@PHENOTYPICFEATURE$ syndrome: report of a new case.	false
+4d8fabc3e026b5fc01fd44026b34f9546bffcd24	The purpose of this study was to assess the prevalence and the characteristics of @PHENOTYPICFEATURE$-like activities during head-up tilt test (HUT)-induced syncope, in patients with suspected vasovagal syncope (@DISEASE$).	false
+e5fd1c107930ef2da698b0a02720fed426af4813	In patients with a recent loss of consciousness and abnormal movements, serum CPK concentration is a useful, practical, and relatively accurate parameter to assist in the differentiation of @PHENOTYPICFEATURE$ from either @DISEASE$ or PNES.	false
+d2992b0aac8831f815187252da5776240cd35122	We also evaluated the differences in hemodynamic parameters between patients with and without @PHENOTYPICFEATURE$-like activities.A total of 71 patients with suspected @DISEASE$, who showed syncope during HUT between October 2010 and May 2013, were analyzed.	false
+203c1280c3979183cf62bb4f43457dbd9f1b9e17	To explore the clinical feasibility of plasma brain-type natriuretic peptide (proBNP) level to differentiate the two major causes of transient unconsciousness, @PHENOTYPICFEATURE$ and vasovagal syncope (@DISEASE$) in adult patients.	false
+e21d66560ef082d303e73cd86e78bd34ce61baf6	Distinguishing epileptic generalized tonic-clonic seizures (GTCS) from either psychogenic nonepileptic @PHENOTYPICFEATURE$ (PNES) or vasovagal syncope (@DISEASE$) is important.	false
+82783d1868a5139a560bd55d93b880e305c6cb16	@DISEASE$ (one form of familial type II @PHENOTYPICFEATURE$).	false
+78133ac1282758b78a3af21f3b9440a4f828049d	Simvastatin decreases cholesterol concentration in all LDL-subfractions in patients with @DISEASE$ and in patients with diabetes mellitus with mixed @PHENOTYPICFEATURE$.	false
+fce9e64aacb9bbc39b094f250a02a5cffdd965a8	Influence of simvastatin on LDL-subtypes in patients with heterozygous @DISEASE$ and in patients with diabetes mellitus and mixed @PHENOTYPICFEATURE$.	false
+193c39c318837b76af31cdb2a2137fa8088b5121	Following DSC-LA, abdominal pain before DSC-LA in a patient with type V @PHENOTYPICFEATURE$ subsided, and regression of tuberous and tendinous xanthomas was induced in @DISEASE$.	false
+f1709209ce43101b9167411b3a985846028dfefc	Multiple flexor tendon xanthomas and @PHENOTYPICFEATURE$ in the hands of a child with @DISEASE$.	false
+29052142e98a8caac3794cc3a3574c31c64a4955	Twenty-six percent of patients had @DISEASE$ and 74% had @PHENOTYPICFEATURE$ type IIb at baseline.	false
+23830e6af2703bea688af48d7081554b431b6c0d	[Diagnosis and therapy of familial hyper- -lipoproteinemia (@DISEASE$ or familial @PHENOTYPICFEATURE$ of type II)].	false
+c30b63676e93ebfec4b014ec84c1c4e4ec6411e4	Changes in ultracentrifugally separated plasma lipoprotein subfractions in patients with polygenic hypercholesterolemia, familial combined @PHENOTYPICFEATURE$, and @DISEASE$ after treatment with atorvastatin.	false
+02e3777b48be96b523629186f8dbe14bdbfa6b80	Twenty-five percent of patients had @DISEASE$ and 75% had @PHENOTYPICFEATURE$ type IIb at baseline.	false
+9354c7acef5d404ecefcdb9a7cef84a8d012cdb2	A patient with type V @PHENOTYPICFEATURE$ on hemodialysis, a patient with type IIa homozygous, and a patient with type IIa heterozygous @DISEASE$ were used in this study.	false
+53f381341b84efaa1dfd216c3b25119a4afb6f5e	@PHENOTYPICFEATURE$ nerve fiber layer thickness and macula lutea in patients with mild cognitive impairment and @DISEASE$.	false
+7c812da5834bd6aac9026e57358fc2e4f737287e	@PHENOTYPICFEATURE$ in @DISEASE$: case presentation and literature review.	false
+f5a5183572b4322ece62ff34e30ca7e5a21f6bab	Chronic divalproex sodium use and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ebc7cf099b5d6400b0ef79c4735ab2312cb0040c	@DISEASE$ (AD) produces @PHENOTYPICFEATURE$ and disturbances in reading.	false
+a15642538d5658605bb3b26195a3e7573dd3827a	Assessment of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+7e92203fe1df9789149130356484a391e6c0e645	Cardiorespiratory fitness and @PHENOTYPICFEATURE$ in early @DISEASE$.	false
+260a01b25be182532a2ff060ede35c63cb1d0dce	@PHENOTYPICFEATURE$ in @DISEASE$: a critical review.	false
+4ea5f3ef7d96fe5f979a9ffd496e0fcf8f1a8548	Neuroanatomic correlates of @PHENOTYPICFEATURE$ in @DISEASE$: a clinicopathologic study.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+392e578bedb66735600c6ecde2dda65fa2032288	@PHENOTYPICFEATURE$ during reading in patients with @DISEASE$.	false
+8cb0df569f510a367d464e9528327375c6267240	We analyzed @PHENOTYPICFEATURE$ with microsatellite instability (MSI) for frameshift mutations in several potential targets of the mutator phenotype involved in DNA damage-response pathways, such as the @DISEASE$ mutated protein-related protein (ATR)-CHK1-Cdc25c pathway, and DNA repair.	false
+4988b630fd197c3b4e74e3f166b7665464300286	Neuropediatric and ophthalmologic examinations, radiologic imaging of the brain, and laboratory analyses were performed to exclude other causes of periodic alternating nystagmus, such as @DISEASE$, acquired disease of the caudal brainstem or the cerebellum, albinism, or loss of vision resulting from @PHENOTYPICFEATURE$ or vitreous hemorrhage.	false
+8f86879feee28924eb4d63f0d474ffc7f2066d1c	That is, the viral-vs-human overlap involves human proteins that, when altered, have been reported to be potentially associated with multiple neurological disorders that can include autism, epilepsy, obesity, dystonia, @DISEASE$, amyotrophic lateral sclerosis, @PHENOTYPICFEATURE$, sudden infant death syndrome, Charcot-Marie-Tooth disease, and myelination.	false
+aff38fbbc5361714662ef54fcc094a19242d30ba	@PHENOTYPICFEATURE$ is present in almost all patients with @DISEASE$ (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and oculomotor abnormal movements.	false
+6ef05d0cdb022d6e09c30615367e1bef2a442d05	@DISEASE$ (SMS) is caused by a microdeletion of 17p11.2 and comprises developmental and growth delay, @PHENOTYPICFEATURE$, unusual behavior and sleep problems.	false
+65a2dffabf06b1ead742c5c9b20be34e1e3f42f8	@DISEASE$ is characterized by a range of minor physical and @PHENOTYPICFEATURE$ and is caused by a de novo deletion on chromosome 17.	false
+322467eb276d6d662bc5a06fc459239bb69fff77	In rare cases, @PHENOTYPICFEATURE$ may occur in both adrenal glands as micronodular hyperplasia (primary pigmented nodular adrenal dysplasia) or as macronodular hyperplasia (@DISEASE$, PBMAH).	false
+06adb377885e520235451ea4986e1556a003adfb	Although elderly patients having these characteristics were considered to have @DISEASE$ or Liddle's-like syndrome, no previous report has indicated that Liddle's-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of >?3?g of protein/day plus @PHENOTYPICFEATURE$ and hypoalbuminemia, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria.	false
+c77dfae526f5f5199242a7d73c282c727cdcb4c7	The @DISEASE$ (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, @PHENOTYPICFEATURE$, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia.	false
+9f1e60d986fa7668c1ab99eec8a19e6c0558a7e0	The @DISEASE$ (SGBS) is an @PHENOTYPICFEATURE$ condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia.	false
+1cd049cd7826e594000f2a6b142d85833a688f81	@DISEASE$ is an X-linked recessive @PHENOTYPICFEATURE$ disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation.	false
+4241268c3f2959b77af345ea8470d7eca41bd21a	@DISEASE$ is an X-linked recessive overgrowth disorder characterized by prenatal onset of @PHENOTYPICFEATURE$, characteristic facies, and frequently mild to severe mental retardation.	false
+c645835a03df7455ff63a7934e9a897a4d1e9784	@DISEASE$ (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal @PHENOTYPICFEATURE$ and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies.	false
+fbf1e5b5af3757fa5cca1de2665615848fef789c	@DISEASE$ (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, @PHENOTYPICFEATURE$ and genitourinary anomalies.	false
+69d2ef5af7ee9545010aeddc6ec537826c7be1ae	@DISEASE$: progress toward understanding the molecular basis for @PHENOTYPICFEATURE$, malformation, and cancer predisposition.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+60862705565bf81e8b3a9fff2b50fbadeecc6f56	GPC3 mutation analysis in a spectrum of patients with @PHENOTYPICFEATURE$ expands the phenotype of @DISEASE$.	false
+04ee86a8a040318ba94eef1fbdcb844dd28673e7	@DISEASE$ (SGBS) is a rare X-linked recessive @PHENOTYPICFEATURE$ disorder with prominent craniofacial manifestations.	false
+1661f3a7af9cebacec2d840dca908ebec7fbd2c1	Clinical overlaps with other @PHENOTYPICFEATURE$ syndromes particularly Beckwith-Wiedemann syndrome and @DISEASE$ have been emphasized.	false
+363425294c493c6481822c116ea37bd7efb1c98a	@DISEASE$ (SGBS) is an X-linked disease characterized by pre- and postnatal @PHENOTYPICFEATURE$.	false
+92e91085fc2123d18dcc482e348d9a133c321fb4	Glypican-3-deficient mice exhibit developmental @PHENOTYPICFEATURE$ and some of the abnormalities typical of @DISEASE$.	false
+a69a2be8dcb69317a5b115a1d4e848df999da508	Both techniques are valid options for upper @DISEASE$ breast @PHENOTYPICFEATURE$.	false
+9a193a504bb9680b441a21742933d6df8e49c2b6	Fatigue without coincident depression may accompany many neurological disorders, including multiple sclerosis, @PHENOTYPICFEATURE$'s disease, motor neuron disease, stroke and post-@DISEASE$ syndrome, and is frequently reported by patients as a predominant complaint.	false
+8dd6fd07f20ba2a9161f068d7057f171a71a3bbf	Recent reports have suggested a relationship between release of lower-extremity @PHENOTYPICFEATURE$ and the development of hypertension in cerebral palsy and @DISEASE$ patients.	false
+33e1f67de2fe5bf4986fb71a6c72db2ef78adfcc	@DISEASE$ spongioblastoma does not exist as a @PHENOTYPICFEATURE$ entity.	false
+9da12a557cda3faba72ee0954a12f3bbb8d11563	@DISEASE$ is still a medical problem in Nigeria, the aftermath of which leaves patients with muscular paralysis, @PHENOTYPICFEATURE$ and abnormalities which require elaborate treatment.	false
+398099a403c6431fe6951ccddd21b13e9d0fb9c6	@PHENOTYPICFEATURE$ patterns in @DISEASE$ among Ibadan children.	false
+9835b253b5b43d7626a9791fe92f4abfd267957d	We report on the technical feasibility and operative outcomes of LPN for upper @DISEASE$ tumors (UPLPN) and lower pole @PHENOTYPICFEATURE$ (LPLPN), and open partial nephrectomy (UPOPN) for upper pole tumors.	false
+722334c2ff970ad300d035604a971429a2d7649f	We report on the technical feasibility and operative outcomes of LPN for upper @DISEASE$ @PHENOTYPICFEATURE$ (UPLPN) and lower pole tumors (LPLPN), and open partial nephrectomy (UPOPN) for upper pole tumors.	false
+a545a656d59c07531db836b5a1ececd636796839	We report on the technical feasibility and operative outcomes of LPN for upper pole tumors (UPLPN) and lower pole @PHENOTYPICFEATURE$ (LPLPN), and open partial nephrectomy (UPOPN) for upper @DISEASE$ tumors.	false
+5932133b293a4ad697423e377a681b39262af600	We report on the technical feasibility and operative outcomes of LPN for upper @DISEASE$ tumors (UPLPN) and lower pole tumors (LPLPN), and open partial nephrectomy (UPOPN) for upper pole @PHENOTYPICFEATURE$.	false
+c04355180640a90a248fc0fc98015c97fc482645	We report on the technical feasibility and operative outcomes of LPN for upper pole @PHENOTYPICFEATURE$ (UPLPN) and lower pole tumors (LPLPN), and open partial nephrectomy (UPOPN) for upper @DISEASE$ tumors.	false
+7466f97e80faaa9a096e27baff0cce55cc8cd404	We report on the technical feasibility and operative outcomes of LPN for upper pole tumors (UPLPN) and lower pole tumors (LPLPN), and open partial nephrectomy (UPOPN) for upper @DISEASE$ @PHENOTYPICFEATURE$.	false
+c624eb98281664a34c02049e9e013f2da883a45e	The horizontal pattern of sub clinical involvement in mild cases of @DISEASE$ was compared and found to be similar to reported patterns of progression of limb weakness in @PHENOTYPICFEATURE$ type motor neuron disease.	false
+14b525fa78b1b4a584a9123e86492711df304e75	New technique for nephron-sparing surgery in @DISEASE$ @PHENOTYPICFEATURE$.	false
+b693ab6b19cd8d5b7b91964f377a89f73c9bc7d5	[Treatment of multiple @PHENOTYPICFEATURE$ in @DISEASE$].	false
+be41c1f008b864689d0a0b9dead797a85e695280	As both of the siblings had alacrima, @PHENOTYPICFEATURE$ of palms, cutis anserina, and nasal speech, diagnosis of @DISEASE$ was considered.	false
+527d222d15175d7edc64b77f09f55c3b226971f7	DMS is a phenotypic expression of syndromic entities such as WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$), Denys Drash syndrome, @DISEASE$, Frasier syndrome, or Galloway-Mowat syndrome.	false
+64950d931ece0fd1153e6137358f71719dff0b23	Case report: prenatal diagnosis of @DISEASE$ by ultrasound at 21 weeks of gestation in a mother with massive @PHENOTYPICFEATURE$.	false
+f46affb36eb4867a5a5ac2a7d6e0b4b49e89c553	@DISEASE$ (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, @PHENOTYPICFEATURE$, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth.	false
+30bce320c34c6a38015e96351e68952a6b206fb0	@DISEASE$ (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death, severe popliteal webbing, oligosyndactyly, ankyloblepharon, orofacial clefts, intraoral filiform bands and @PHENOTYPICFEATURE$.	false
+10fc5eab9f54d29522e8cb2df23a36c6cb6be441	@DISEASE$ (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and @PHENOTYPICFEATURE$.	false
+793d0a24de1340350408051b2354b6f56a6d77d1	Topics covered include improving the specificity of breath tests for bacterial @PHENOTYPICFEATURE$; small bowel enteroscopy; early diagnosis of mesenteric ischemia; the use of polymerase chain reaction for diagnosing central nervous system involvement in Whipple's disease; progress in defining the cause and pathogenesis of chronic idiopathic intestinal pseudoobstruction and the @DISEASE$; defining the role of gut barrier function in health and disease; the therapeutic role for bile acid-binding resins in diarrhea after refeeding in critically ill patients; use of genetic techniques and topical steroid therapy in treating graft-versus-host disease; and the beneficial effects of combination hormonal therapy in occult gastrointestinal blood loss resulting from angiodysplasia.	false
+e2da55b1305bf0da6af1c807ca15a3e95b5c9cb0	The distinct cytoplasmic and nuclear upstream and downstream effectors of mTOR are involved in many cancers and human genetic diseases, such as tuberous sclerosis, @DISEASE$, von Hippel-Lindau disease, neurofibromatosis type 1, polycystic kidney disease, Alzheimer's disease, cardiac hypertrophy, @PHENOTYPICFEATURE$ and diabetes.	false
+77de853043bed8a71445ea302c50e56cfd435ed8	deletion in a child with @DISEASE$, @PHENOTYPICFEATURE$, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.	false
+731bb8c705b14024755860efb0b08f6a01320d6d	Patients who may benefit from routine surveillance include those with a family history of endometrial cancer, a history of hormone replacement therapy with less than 12-14 days of progestogens, long-term use of tamoxifen, hereditary nonpolyposis colorectal cancer family syndrome, Cowden's syndrome, @DISEASE$, a history of breast cancer and @PHENOTYPICFEATURE$.	false
+d5d2f78f6824a9b78982ddeaa74f6af5d2535ca7	Three had scrotal @DISEASE$ and @PHENOTYPICFEATURE$.	false
+25877b19495a3694c78ff2f633a588be7c6c90fa	Collected data included the Barcat classification of the @DISEASE$ anomaly, anatomical penile variants, associated urogenital and extra-@PHENOTYPICFEATURE$, and associated disabilities of physical and mental development.	false
+ae34c62cd3fb9fac77a71c335ae6c01d65deaaa4	(4) For facial clefts, @PHENOTYPICFEATURE$, and @DISEASE$, all postulated processes poorly account for the observed temporal and spatial patterns.	false
+14b7f3fec19fc8497a591e012e3b22bd39af9a03	The patient's other congenital anomalies included microretrognathia, short neck, @PHENOTYPICFEATURE$ of four extremities and @DISEASE$.	false
+e18ce351bac998cf7606d191a29b25ba97f9c129	We recommend screening of NR5A1 in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+be0caee15c6798f6e49d74140fd3b8fd84ff85fc	The etiologies of the male @PHENOTYPICFEATURE$ @DISEASE$ and cryptorchidism remain unclear.	false
+f50a26cea570a5507a8343be3f97f542da28a586	Her affected second son has @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a06a2f9c3231adee4e7c60c8ee4a782d3fd5e783	The fetus was a phenotypic male with glandular @DISEASE$, a horseshoe kidney and asymmetric @PHENOTYPICFEATURE$.	false
+85d2c462b27cb144282ce9cbd9153f5fbbbf0660	Penoscrotal @DISEASE$ and coarctation of the aorta with @PHENOTYPICFEATURE$.	false
+d903288ae66cde725b16644fdd3f019d25b2f4b6	G syndrome (hypertelorism with esophageal abnormality and hypospadias, or @DISEASE$-@PHENOTYPICFEATURE$, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography.	false
+e3ca0e247337a927cab8880197e3e4b2ccd76351	G syndrome (hypertelorism with esophageal abnormality and @DISEASE$, or hypospadias-@PHENOTYPICFEATURE$, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography.	false
+bf1492d664629cd17af9b03f011efeb4ac0ab51e	Narcolepsy and @DISEASE$ are chronic brain disorders with an onset at a young age, whereas sleep apnea is more common in middle age and is associated with @PHENOTYPICFEATURE$ and cardiovascular problems.	false
+93d7c44ed9e37a27048f2a4fc7217abe1f8f2763	The etiology of daytime sleepiness in children and adolescents is diverse and includes inadequate sleep hygiene, @PHENOTYPICFEATURE$, delayed sleep phase syndrome, @DISEASE$, periodic hypersomnia, narcolepsy, and mood disorders per se.	false
+c88e945fade025076239bde4c17c114e5f681509	Two-hundred-eight consecutive patients underwent the diagnostic work-up and reached the final diagnosis of NT1 (n?=?133), @DISEASE$ or @PHENOTYPICFEATURE$ type 2 (IH/NT2 group, n?=?33), or subjective excessive daytime sleepiness (sEDS group, n?=?42).	false
+8355085ddc25ab7c3ebc2c26812fafdb6e19baa2	WAF tests identified distinct attention profiles in patients with narcolepsy type 1, @DISEASE$/@PHENOTYPICFEATURE$ type 2, and patients with subjective excessive daytime sleepiness.	false
+13f6bb3449db92e7a5fd5c1b1f4c6ce3b1e68538	We need to decipher the causes of excessive sleepiness: sleep deprivation, toxic and iatrogenic, psychiatric disorders (including depression), non-psychiatric medical problems (@PHENOTYPICFEATURE$, neurological pathologies...), sleep disorders (as for example the sleep apnea syndrome), and finally the central hypersomnias namely narcolepsy type 1 and 2, @DISEASE$, and Kleine-Levin syndrome.	false
+48f383a9410cf3e5ba460bab4ba2f01361bc2647	We need to decipher the causes of excessive sleepiness: sleep deprivation, toxic and iatrogenic, psychiatric disorders (including depression), non-psychiatric medical problems (obesity, neurological pathologies...), sleep disorders (as for example the sleep apnea syndrome), and finally the central hypersomnias namely @PHENOTYPICFEATURE$ type 1 and 2, @DISEASE$, and Kleine-Levin syndrome.	false
+fedfc19eaf2db1d69af8f3a59787588cd78b6b05	The following groups were included: 34 patients with primary insomnia (PI), 30 patients with sleep apnea syndrome (SAS), 31 patients with restless legs syndrome (RLS), 26 patients with SAS comorbid with RLS (SAS?+?RLS), and 24 patients with @DISEASE$ or @PHENOTYPICFEATURE$.	false
+7740df02da834e8fa29c44b4c9cc410cef907329	The case is reported of a 2-year-old boy born with @DISEASE$ who had difficulty in swallowing and who exhibited @PHENOTYPICFEATURE$ and quadriparesis due to compression of the medulla and cervical spine.	false
+c89f0c85878c532f4d577faccebda80b36780f79	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, @PHENOTYPICFEATURE$, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, @DISEASE$, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+f36764f36c4935b972439307218edc5829bc0cb8	No protection was observed in rats treated with @DISEASE$ alone nor was there protection against a @PHENOTYPICFEATURE$ that no serologically detectable CEA.	false
+5918c4c5b9597bb185d5a1a238fa9902877588fd	For immunostimulation, one-third of the dogs were given chemically modified autochthonous @PHENOTYPICFEATURE$ cell extract in Freund's complete adjuvant (@DISEASE$), one-third were given nonmodified tumor cell extract in FCA, and one-third were given FCA alone.	false
+0fedba45621a05c4819073b462aceceeed45be75	For immunostimulation, one-third of the dogs were given chemically modified autochthonous tumor cell extract in Freund's complete adjuvant (@DISEASE$), one-third were given nonmodified @PHENOTYPICFEATURE$ cell extract in FCA, and one-third were given FCA alone.	false
+ac5e89ae3456ba38b7d15fc817309c02a5424e32	Active immunization of rats with an emulsion consisting of Freund's complete adjuvant (@DISEASE$) and an extract of rat tumor containing carcinoembryonic antigen (CEA) induced clear-cut protection from growth of the syngeneic CEA-positive @PHENOTYPICFEATURE$, RCA-1.	false
+f8aa24141f119ad1b312e93fb39a4dd94e1ab313	Active immunization of rats with an emulsion consisting of Freund's complete adjuvant (@DISEASE$) and an extract of rat @PHENOTYPICFEATURE$ containing carcinoembryonic antigen (CEA) induced clear-cut protection from growth of the syngeneic CEA-positive tumor, RCA-1.	false
+f91d19ad1dd40bb3ee6d6cf464ef5b6adcaefb06	The mice were sacrificed to evaluate the development of @DISEASE$ and hepatocellular @PHENOTYPICFEATURE$.	false
+ad38b0d8c1c32b4b80ef1bba58d7eb78d1cb1121	Delayed-type hypersensitivity and antibody responses against the allogeneic @PHENOTYPICFEATURE$ cells were comparable after s.c. and i.p. immunization and after immunization with @DISEASE$ and DDA.	false
+e67ed4968fc459fa406bf7b205882bd81ff8e086	11/21 of patients with PCA and 4/16 with @DISEASE$ and @PHENOTYPICFEATURE$ recurrence had negative serum-TG levels.	false
+70ec4c4c4a0f8c92d4d27c4a548b000beedef8d5	The growth of Meth A (MA) @PHENOTYPICFEATURE$ was suppressed in tumor-antigen-specific manner in BALB/c mice immunized with mitomycin C-treated MA (MMC-MA) cells in saline or in Freund's complete adjuvant (@DISEASE$).	false
+a90143944d87d6bf18860916e6ad81b850beffb4	The growth of Meth A (MA) tumors was suppressed in @PHENOTYPICFEATURE$-antigen-specific manner in BALB/c mice immunized with mitomycin C-treated MA (MMC-MA) cells in saline or in Freund's complete adjuvant (@DISEASE$).	false
+ae689d33595e8359be1b668afbf8389bc6b0e260	The electroencephalographic sleep records of two BRs, one of which with @PHENOTYPICFEATURE$ atrophy, showed qualitative and quantitative alterations similar to those of @DISEASE$ patients, even if marked to a lesser degree.	false
+f52ef13f65d7f409804b9b92a5b026c20a9c4329	Eosinophilic @DISEASE$ and biliary @PHENOTYPICFEATURE$ were the most prevalent preneoplastic and neoplastic lesions.	false
+18c74330e55e49bf6f81b932b0a8db1c68087d39	The mesenteric and thymic CR lymphocytes of mice treated with streptococci or @DISEASE$ were more effective than the corresponding lymphocytes of untreated mice in suppressing the @PHENOTYPICFEATURE$ growth in animals given the cell mixture.	false
+b423f3b812c2998817dab9d44e07735b7c8ecc74	We report here a case of type 1 @DISEASE$ as well as a case of mesangial proliferative glomerulonephritis associated with streptococcal @PHENOTYPICFEATURE$ superimposed on atopic dermatitis.	false
+7aedc0c51ce89bc52473e9193b311c37ae9eee71	MC is characterized by variable organ involvement including skin lesions (orthostatic purpura, ulcers), chronic hepatitis, @DISEASE$, @PHENOTYPICFEATURE$, diffuse vasculitis, and, less frequently, interstitial lung involvement and endocrine disorders.	false
+b1ba267dcbb7e38af287357fa7e293cf7f1da35b	RTX was administered to 31 patients with MC (type II in 29 cases and type III in 2) with diffuse @DISEASE$ (16 cases), @PHENOTYPICFEATURE$ (26) and large skin ulcers (7).	false
+ecb91136b6f5aedd4dbedde05265857f308f3788	RTX was administered to 31 patients with MC (type II in 29 cases and type III in 2) with diffuse @DISEASE$ (16 cases), peripheral neuropathy (26) and large @PHENOTYPICFEATURE$ (7).	false
+ff5393de965b64b49def78ecdcfcbc124991e71c	Most common clinical manifestations in CryoVas are skin lesions (orthostatic purpura and ulcers), weakness, @PHENOTYPICFEATURE$, Raynaud's phenomenon, sicca syndrome, @DISEASE$, and arthralgia and seldom arthritis.	false
+6e5aa291b5a14de2af9dc37c5f803a0d82d3647b	All patients were symptomatic, presenting with weakness (24 of 29 patients), arthralgia (24), purpura (16), @PHENOTYPICFEATURE$ (20), Raynaud's phenomenon (8), hypertension (19) and @DISEASE$ (MPGN) (9).	false
+4e3eb7f7edf7400868546ce83cb57dfe56f9e5b0	In contrast to cutaneous vasculitis, HCV RNA has not been prominently detected in immune complexes in @DISEASE$ lesions and has not been detected at all in the @PHENOTYPICFEATURE$ lesions.	false
+f128db8b875fd7075fdd248ac7fb07554b969fee	Data related to demographic data (age and gender), clinical symptoms (dyspnea, dysphagia, dysphonia, lumps in neck, and hoarseness), methods of diagnosis (computed tomography [CT], chest X-ray [CXR], ultrasonography, and magnetic resonance imaging), and postoperative complications (bleeding, early and late dysphonia, early and late @PHENOTYPICFEATURE$, transient and @DISEASE$ hypocalcemia, transient, and permanent recurrent laryngeal nerve paralysis) were collected.	false
+a27ebbe9d4736ace45d2aec40cf1291379c1145d	@DISEASE$ @PHENOTYPICFEATURE$ was found in 2 children (5%) with infantile cerebral palsy, and another 2 (5%) had borderline mental retardation.	false
+069317a6b459a52159c27f2e26833ab45e678fb2	All patients suffered severe ocular pain, @PHENOTYPICFEATURE$, and vision loss immediately after the injections and had unilateral @DISEASE$ blindness.	false
+36e7c36966948cb080f2258dcc665c361bd8ad25	We hypothesized that early @PHENOTYPICFEATURE$ was a marker of @DISEASE$ brain injury and hence predicted long-term functional outcome.	false
+ca9398f9bec317b86f326c234fe5aac704173dd1	It is distinct from the malignant, relatively more common, alternating hemiplegia of childhood (AHC), complicated by developmental deterioration, @PHENOTYPICFEATURE$, and @DISEASE$ neurological deficits such as choreoathetosis.	false
+cf2038e0b71dd8ca8c97a8920acd40a316d78fc7	Disabling headache, transient, progressive, and @DISEASE$ neurological deficit, heart failure, hydrocephalus, macrocephaly, and @PHENOTYPICFEATURE$ may also occur.	false
+c2f52530e978a0eedb74be257bed3f4d9fd9cd9e	The aim is to survey primary and @DISEASE$ @PHENOTYPICFEATURE$: hypodontia, microdontia, a supernumerary tooth, and fused teeth in patients with cleft lip and/or palate.	false
+d41ae85dc6344224a4aecd736e892af8ae9ace8f	It may lead to deafness, blindness, cerebral palsy, hydrocephalus, @PHENOTYPICFEATURE$ or @DISEASE$ neurological dysfunction in survivors.	false
+6e04edf6b9e403969d45743aaf8ea9344ecfd2ba	Exposure of neonatal rats to a 5 Gy dose of X-irradiation induces @DISEASE$ abnormalities in cerebellar cortex cytoarchitecture (disarrangement of Purkinje cells, reduction of thickness of granular cortex) and neurochemistry (late increase in noradrenaline levels), and motor function (@PHENOTYPICFEATURE$).	false
+b500bd1e4cdf36d5b3385fcee859b32fea16ea12	@DISEASE$ and @PHENOTYPICFEATURE$ in a child with fetal alcohol syndrome.	false
+dba98e77c68a3755f8f68e9c7db83add20922753	The pattern of congenital @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+dba98e77c68a3755f8f68e9c7db83add20922753	The pattern of congenital @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+cc21f1cff57c0b8fbbb03b3a012971b9f4af6ea7	Magnetic resonance urography in patients with @PHENOTYPICFEATURE$ dysfunction and @DISEASE$.	false
+28cfece9112be081bd8bca990f6ef672617e81c9	All the enrolled PD patients were divided into tremor dominant (TD) and non-@PHENOTYPICFEATURE$ dominant (@DISEASE$) subtypes.	false
+d3fd03528ee4738166f39b33c89bcaa76ce664d0	We found in prospective studies involving 1255 cases of exposure that CBZ therapy increased the rate of congenital anomalies, mainly @DISEASE$, cardiovascular and @PHENOTYPICFEATURE$, and cleft palate.	false
+efb675d278fcff7c8f7503a7cc038bd3aecec645	We found in prospective studies involving 1255 cases of exposure that CBZ therapy increased the rate of congenital anomalies, mainly @DISEASE$, cardiovascular and urinary tract anomalies, and @PHENOTYPICFEATURE$.	false
+6f61ad2bd74cfc8a86e1ebcc8e187c57e241fbb9	Rubinstein-Taybi syndrome 2 with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+04af59ebec10266b387b36298bbd2f85b4c5765e	We genotyped, for the MAPT haplotypes H1 and H2, a sample of 181 PD patients with distinct clinical subtypes: tremor dominant and non-@PHENOTYPICFEATURE$ dominant (@DISEASE$).	false
+b5d94bcd9a3f91ac68709b29c43fb4665d754645	Incidence and distribution of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+b7cf0e8453b0b0d50d2d6bad77875be1705dd9d8	PD patients were also distinguished as tremor dominant (TD, n=44) and non-@PHENOTYPICFEATURE$ dominant (@DISEASE$, n=80).	false
+a2ae7e971e7a05b9a917b036a7f5809080eac5aa	We investigated whether diffusion kurtosis imaging (DKI) and quantitative susceptibility mapping (QSM) could detect pathological changes that occur in Parkinson's disease (PD), multiple system atrophy with predominant parkinsonism (MSA-P) or predominant @PHENOTYPICFEATURE$ (MSA-C), and @DISEASE$ syndrome (PSPS) and thus be used for differential diagnosis that is often difficult.	false
+0230c6869af5f32804d787a3b9dbe7fa98da4cec	[Migraine with aura and recurrent @PHENOTYPICFEATURE$ attacks in a patient with @DISEASE$].	false
+4c7a66171d3064b8b6355fb6b5b5d55395862c48	Clinical and analytical sensitivities in @DISEASE$ testing and a report of de novo @PHENOTYPICFEATURE$.	false
+c7f19c6df35deb54e5c30a805c17122ce8fed24f	Indeed, Asph-knockout mice had a foreshortened snout, which corresponds to the @PHENOTYPICFEATURE$ in individuals with @DISEASE$.	false
+284264644900db6e07a34ec19a27a120b068c955	Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had @PHENOTYPICFEATURE$, 2 had Ataxia telangiectasia, and one each had @DISEASE$, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect.	false
+c4711a2054bd6bae1c19aefba0a62e3bed62dfe7	@PHENOTYPICFEATURE$ and Neurobehavioral Performance in @DISEASE$.	false
+315a4f1ca4dbf169fc7ca28fba250fd8f6a38848	It has been associated with a number of systemic inflammatory conditions including systemic lupus @PHENOTYPICFEATURE$, rheumatoid arthritis, and @DISEASE$.	false
+2d5111d8c8938e1405f6c19d2828da682fa3e10d	There were multiple etiologies of contracture such as burn @PHENOTYPICFEATURE$ contractures, intra-articular fractures, septic arthritis, @DISEASE$, and immobilization.	false
+0c9399df73467f86fa0b34ef981bd87cbb3eaae6	@PHENOTYPICFEATURE$ and neurobehavioral functioning in children with and without @DISEASE$.	false
+0b6d96690699ae079b426e9dbfb52d543e198ccf	Results of previous studies that compare the two technologies show poor correlation between them in both @DISEASE$ (JIA) and childhood lupus @PHENOTYPICFEATURE$ (SLE) patients.	false
+c2169567b9ae58cc91462d97c9f48f79bf12b37c	We report a 5 1/2-year-old boy with @DISEASE$ (JRA) and lower-limb @PHENOTYPICFEATURE$.	false
+f533d495bf4fb0a09d2f52b081ccd344e182e28a	Antinuclear antibody screening by ELISA and IF techniques: discrepant results in @DISEASE$ but consistency in childhood systemic lupus @PHENOTYPICFEATURE$.	false
+1afe1fdd352724b4e5d4ad71669a0d7ce6cf753b	@PHENOTYPICFEATURE$, daytime sleepiness, and neurocognitive performance in children with @DISEASE$.	false
+8a0e19f2483225d0fc930ce0a33b130f23d7ed70	The study compared @PHENOTYPICFEATURE$ and behavior problems in school-age children with and without @DISEASE$ (JIA).	false
+2493963f0383b91df88e6f224fc29c617927a98d	To compare daytime sleepiness and neurobehavioral performance in children with active and inactive @DISEASE$ (JIA), and explore relations among measures of @PHENOTYPICFEATURE$, daytime sleepiness, and neurobehavioral performance.	false
+a7a614c549dfbafa9928c1ddc1ff18145731f2a9	The propositus, and 18-year-old man, was evaluated following an intracerebral hemorrhage at age 15 years and was noted to have marked hypotonia, motor delay with mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and diarrhea from infancy; seizures from age 3 years; and abnormal hair (pili torti) and face, cutis laxa, and multiple joint dislocations.	false
+feea585afceda4b478f305ec89f841d9238e8717	Intrauterine growth retardation, duodenal and extrahepatic @PHENOTYPICFEATURE$, hypoplastic pancreas and other intestinal anomalies: further evidence of the Mart?nez-Fr?@DISEASE$.	false
+75c8e24afcb0f242876c45a95883ff59ee4f5c06	The idiopathic disorder Eosinophilia Myalgia Syndrome (@DISEASE$), characterized by peripheral @PHENOTYPICFEATURE$, myalgia and frequently fasciitis, can be triggered by ingestion of some commercial preparations of L-Tryptophan.	false
+10d27a88400db76d85b80ca2cde6d64faa54a466	The aim of the present study was to examine the existence of EMSs, the association between EMSs and @PHENOTYPICFEATURE$ variables and @DISEASE$ driven patterns.	false
+9b5cc8fc28ec28d5c6ba111cfc7562f28623708d	Western blotting further revealed that the C-termini of both AQP0 and Cx50 in @DISEASE$ @PHENOTYPICFEATURE$ were decreased to over 50% to that of the wild-type.	false
+abaa6e290ff1947a6b7a36ef18d3b6a3f6901011	@DISEASE$ @PHENOTYPICFEATURE$) have not yet been characterized genetically.	false
+d57482b02e5f9c573b69f8319bd9b842896d4296	The affected subject was a 22-yr-old man with a history of @DISEASE$ and mild @PHENOTYPICFEATURE$, a 1-yr duration of diabetes mellitus, and a low level C peptide response to oral glucose.	false
+a98cde929948836f87777c0e00c79a1d85e61bbb	At age 16 years, the children with a @PHENOTYPICFEATURE$ and a random sample of those with normal feet as newborns were examined by dynamic foot pressure (@DISEASE$) and gait analysis (Vifor).	false
+e6d041cda567bf0d696a95b580b595cae6c9bc99	A prominent side effect of @DISEASE$ was found to be the high intensity, high frequency impulse noise generated by the coil which causes severe cochlear damage and permanent @PHENOTYPICFEATURE$ in experimental animals.	false
+c658ed34670d61aa2b1c95040f84bec93f15e2af	Previous morphological and biochemical studies indicate that a late appearing hereditary @DISEASE$ mouse @PHENOTYPICFEATURE$ may be a good model for certain human senile cataracts.	false
+639128e3e79f8e6b7da8e0c5f15945116a3b8c5e	This patient presented with atonic-@DISEASE$, bilateral sensorineural hearing loss, ataxia, motor regression, @PHENOTYPICFEATURE$, and pigmentary retinopathy.	false
+b1b9de7870ee51f1344b6f655200d881f5dbe828	approximately 4.7), which is much higher than the ratios found in @DISEASE$ cataract (approximately 0.3) and in cac-strain mouse @PHENOTYPICFEATURE$ (approximately 0.5).	false
+ec59169fc4b4cf57b6bd5973b4f8797472cf1603	approximately 4.7), which is much higher than the ratios found in @DISEASE$ @PHENOTYPICFEATURE$ (approximately 0.3) and in cac-strain mouse cataract (approximately 0.5).	false
+c700dc500f52c060499d2fdeb6e861b7098f3c9f	@DISEASE$ with congenital heart block and severe @PHENOTYPICFEATURE$ due to myocarditis and endocardititis of the mitral valve.	false
+1bf407cbd699e2fff827f4fa9a81fa90f72e95f4	@DISEASE$, late onset @PHENOTYPICFEATURE$, and recurrent seizures.	false
+699b787175a799ddf9a81f10e041f80acda97492	@DISEASE$ is a rare cutaneous disease, @PHENOTYPICFEATURE$-like disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis.	false
+6fd90b7f6e0359372e2b8f07080ae0e79cef0d70	To describe the clinical features of a large kindred with @DISEASE$ (FIME) with autosomal recessive inheritance, and to discuss the nosology of the early infantile @PHENOTYPICFEATURE$ epilepsies (IMEs).	false
+f5e3335ef8f42e6cf4ceae6d398e569e43ba6fae	The lectins of interest include galectin-1, -3 and -7 participating in @PHENOTYPICFEATURE$ progression, bacterial lectins from Pseudomonas aeruginosa (PA-IL), E. coli (@DISEASE$-H) and Clostridium botulinum (HA33) or DC-SIGN, receptors of macrophages and dendritic cells.	false
+81528f100643a4c403e963d8337ba4101b10f9f4	These forms in development include @DISEASE$ (FIME), benign adult familial myoclonic epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset @PHENOTYPICFEATURE$ epilepsy (AME).	false
+8d85fdd1c1466e8c5632689ebbaed67eebe7e6b4	These forms in development include @DISEASE$ (FIME), benign adult familial @PHENOTYPICFEATURE$ epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset myoclonic epilepsy (AME).	false
+d0e9085c40739de64950d77e0c1016d9279a9b9c	Apart from an argument against viewing FIM as a manifestation of simple Brownian motion, the correlation analysis of FIM in the adjacent peripheries of a rat fibroblast and a K4 rat sarcoma cell confirmed the notion of higher and uneven distribution of velocity of @DISEASE$ in a @PHENOTYPICFEATURE$ cell so far shown in color-coded images only.	false
+ab7dd1c54f9e6ea558559b7133bd57c5f9c86c57	Stat3 is apparently not required for neu-driven mammary tumorigenesis as @PHENOTYPICFEATURE$ developed similarly in both Stat3-sufficient and @DISEASE$ glands.	false
+9fd8b01bdf7344ebcb5591b24eece635d809b28b	In a minority of animals, focal, nonmetastatic @DISEASE$ mammary @PHENOTYPICFEATURE$ escaped immune surveillance after a long latency or equilibrium period.	false
+e529a20b9e11c811d54940ac69d896571d8946c8	A genome-wide expression analysis of @DISEASE$ @PHENOTYPICFEATURE$ suggested that Stat3 might negatively regulate intestinal cancer progression via the cell adhesion molecule CEACAM1.	false
+daf74314d2731e1ef737d4ea56350b8fc26f925f	@DISEASE$ reduced @PHENOTYPICFEATURE$ incidence and growth while STAT3 hyperactivation has an opposite effect; also it negatively regulates p53 gene.	false
+50efd13f67d5296dd39ad03d699f1a71016c9f63	Furthermore, @PHENOTYPICFEATURE$ regression was correlated with massive immune infiltration into the @DISEASE$ lesions, leading to their elimination.	false
+23a9b57bebd777cdaa3b247c30a5aab21714e62d	The decreased malignancy in @DISEASE$ @PHENOTYPICFEATURE$ is attributed to a reduction in both angiogenic and inflammatory responses associated with a Stat3-dependent transcriptional cascade involving CCAAT/enhancer binding protein delta.	false
+502113f2858dbecdce5b3c5ea9d4d2084a8c64e2	Germline loss-of-function mutations are known to cause hyper-IgE immunodeficiency (@DISEASE$), whereas somatic gain-of-function mutations have been described in large granular cell leukemia, and polymorphisms in STAT3 have been associated with inflammatory bowel disease and other solid organ @PHENOTYPICFEATURE$.	false
+0cb66ab8263fc35d0c43ba92bcc1797fa6a25135	It also describes typical findings in Alzheimer's disease, @PHENOTYPICFEATURE$ and @DISEASE$ and possible confounding factors, such as vascular changes and brain atrophy.	false
+a8b594c8848a9387b151000f363098c7e9dd87b1	We propose a classification of lymphopenia according to the mechanism involved: lymphocyte production defects, including primary immune deficiencies and immune deficiencies secondary to malnutrition or zinc deprivation; excess catabolism, due to causes including radiotherapy, chemotherapy, immunosuppressive therapy, HIV infection, and @PHENOTYPICFEATURE$; abnormal lymphocyte trapping, including mainly splenomegaly, certain viral infections, septic shock, extended burns, systemic granulomatosis, and corticosteroids; other causes of lymphocytopenia, with mechanisms that remain poorly understood: ethnicity (Ethiopians), lymphoma, renal insufficiency, and @DISEASE$.	false
+9cd1add74e397d447575168335bff6efc9024c7d	Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, @DISEASE$, and unilateral @PHENOTYPICFEATURE$.	false
+d81f1533b7d5d22db233e791c96e634226781d65	The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and @DISEASE$ where almost half of patients have a pure or component of @PHENOTYPICFEATURE$.	false
+4289e061249855aa7e52dfab07428835549def56	The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a @PHENOTYPICFEATURE$ and @DISEASE$ where almost half of patients have a pure or component of sensorineural hearing loss.	false
+c90a4501ef3605ef37899b540e43230149ad4e81	Atypical @DISEASE$ features of epithelial-derived anal and/or external @PHENOTYPICFEATURE$ were present in the two affected family members with the mutation.	false
+88378006a6cc2bcd97ce353fdd61fc131690b5fa	@PHENOTYPICFEATURE$ occurred in 17 eyes of 11 patients with Apert syndrome, 14 eyes of 11 patients with @DISEASE$, and 12 eyes of 8 patients with other craniofacial synostosis syndromes.	false
+d1698e4f06c7071a87b54fa8502448005f84e023	[Crouzon's @DISEASE$ with @PHENOTYPICFEATURE$.	false
+70751b0ab56054fce8af202522422f5dee602764	Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are @PHENOTYPICFEATURE$ (Griscelli syndrome), eye defects (@DISEASE$, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome).	false
+c7f55a6956eecc9d8db9241169ff3f78b99316c3	Patients in the @DISEASE$ group experienced fewer adverse events of cardiac toxicity (P?=?0.02), functional gastrointestinal disorders (P?=?0.008), @PHENOTYPICFEATURE$ (P?=?0.02), blurred vision (P?=?0.02) and fatigue (P?=?0.03) than the patients in the no treatment group or the antidepressants group.	false
+5eb0f549cd18c4312961611fbd9b41ecdc887f0f	Topical Chinese herbal medicine (@DISEASE$) is generally used in China, separately or in combination with conventional medicine, to treat diabetic @PHENOTYPICFEATURE$ (DPN).	false
+dbb59b4eb2e5492a29d3e2e3d1df4456de8bae20	By international co-operative study, we report the clinical outcome of 10 patients with @DISEASE$ and severe to profound @PHENOTYPICFEATURE$ who received a CI at 8 institutions.	false
+8f94fb38956e78b88cc1a1a41eb509c334350c2d	CI is safe and effective in most patients with @DISEASE$ and severe to profound @PHENOTYPICFEATURE$ and should be offered to these subjects, possibly as soon as they develop the criteria for candidacy.	false
+210e41793e8321b9cfa2135ffadef0bca619cd5d	 is a low-virulence gram-negative bacillus known to cause various ocular infections such as endophthalmitis, panophthalmitis and keratitis that are usually associated with an underlying risk factor such as peri-partum or postpartum phase, @PHENOTYPICFEATURE$ surgery, contact lens use, @DISEASE$ or ocular trauma.	false
+cd3589665ce4e8298df2ece4bca6cbbfe1cd2d6e	In this report, we present a case of @DISEASE$ that occurred after performing @PHENOTYPICFEATURE$ surgery concurrent with a limbal relaxing incision.	false
+2670b7aeb9af575dbba0114f2e63ae3ba18ad670	Patients with this very rare mutation present with a myriad of ocular findings, including infantile @PHENOTYPICFEATURE$, @DISEASE$, corneal opacification, and orbital myopathy.	false
+9ee5375246b004eb389e5b6be47da03688f83ac9	In Central Africa @PHENOTYPICFEATURE$ is a more important cause of blindness and visual @DISEASE$ than retinopathy.	false
+129fb7febbfd95aab59d5f8944893306e86379da	Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, @PHENOTYPICFEATURE$, hearing impairment, mental disability, or @DISEASE$ following brain tumours were asked to freely express their concerns and hopes for the future and to assess disability in their own children by employing a set of 26 International Classification of Functioning, Disability and Health, Children and Youth Version (ICF-CY) body function (b) codes and activity and participation (d) codes.	false
+7088b72293961ffb79c3a12332d460f726f1c38b	Quality of life effects were assessed with the SF-36 Health Survey and @PHENOTYPICFEATURE$ @DISEASE$ Index questionnaires.	false
+c1e53f2666a542a1dcfff83f081a79ec6423f44e	We report the cases of a 70-year old man with left temporal @PHENOTYPICFEATURE$ and of a 39-year-old man with neuropathologically verified frontal lobe degeneration (@DISEASE$) of Non-Alzheimer type.	false
+46b26cd7f63dc80c2952e7c5e3ffeae341f22861	The regional cerebral blood flow, @PHENOTYPICFEATURE$, white matter changes and neurophysiologic changes were evaluated in 28 patients with a clinical diagnosis of probable Alzheimer's disease (AD) and in 8 patients with a clinical diagnosis of frontal lobe dementia (@DISEASE$) using single photon emission computed tomography, magnetic resonance imaging and electroencephalography (EEG).	false
+1df23763cae69a73c9dde81e1d8231e63ec8fe77	Patients with @DISEASE$ have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, @PHENOTYPICFEATURE$, proteinuria, and kidney failure.	false
+8efe05a5b3bf0e2716d005afbd149cd816284a3f	Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (@DISEASE$) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, @PHENOTYPICFEATURE$, and renal disease.	false
+d6ebfbd30cd85331b692ad549b6f0ea1ac76057f	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that may be a feature of PNFA.	false
+569a7ee7eec3c917ed7b298c89b4125374f5622c	Acquired apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that affects the implementation of articulatory gestures and the fluency and intelligibility of speech.	false
+0a7450b6befcefc3055a1cbab5f69a9736f03e8b	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that disrupts the planning and programming of speech motor movements.	false
+ead90df3ea2e25a5fc55d269b19dbd7b4cd17e2e	All patients had @DISEASE$ based on reduced diadochokinetic rate, 69% of cases had an abnormal orofacial @PHENOTYPICFEATURE$ score and 44% of cases (including the three CBS cases and one case with PSP) had an abnormal limb apraxia score.	false
+4c130540d75ddc4a2e8c74fc335b684956162dae	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ characterized by disturbed spatial and temporal parameters of movement.	false
+10fbd33a51f7dfa4873da16f78421df622e09df7	In addition, @DISEASE$ patients had negative connectivity between the left PM and right aINS and this effect decreased with increasing severity of non-verbal oral @PHENOTYPICFEATURE$.	false
+1fa9c72003e07bd617b396c15fddd2c6e5581729	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$, which is clinically characterized by the combination of phonemic segmental changes and articulatory distortions.	false
+f195937cc3a1702cd2b16210b15e80d3f3c265e3	Separate sections are devoted to the delimitations of @DISEASE$ from oral facial @PHENOTYPICFEATURE$, dysarthria, and phonological impairment.	false
+814b30a9baf1840ab638fd10bfd30b5f7b41b394	Acquired apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ caused by brain damage.	false
+d0eaf9a9ba8e658932c949981b8a4f6795ab75c9	Apraxia of speech (@DISEASE$) is a motor @PHENOTYPICFEATURE$ that can occur in the absence of aphasia or dysarthria.	false
+10700f6c5c5fd8c5cb5228e01508e56bcada9e55	More recently, genome-wide association studies have gained increasing popularity, as they enable scientists to robustly associate specific variants with the predisposition for complex disease, such as @DISEASE$ diabetes, inflammatory bowel disease, @PHENOTYPICFEATURE$, autism and leukemia.	false
+3dec509995472f72215ea0e6f6196f151799c1b3	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, @PHENOTYPICFEATURE$, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+b9c73915612849cc092a234c174b6189e2bd5657	Carpenter syndrome (@DISEASE$) is a rare disorder characterized by acrocephaly, @PHENOTYPICFEATURE$, congenital heart disease, syndactyly, preaxial polydactyly, obesity, cryptorchidism, hypogenitalism, bony abnormalities, and umbilical hernia.	false
+47616da32a685e0c52dbfc17f537a444646aeb2f	Ossicular fusion and @PHENOTYPICFEATURE$ in @DISEASE$: in vivo evidence of arrest of embryogenesis.	false
+610bfb157c70e4846e2ee744a7eb466223a29d57	Follow-up CT scans demonstrated progressive @PHENOTYPICFEATURE$ during @DISEASE$ administration.	false
+117081f8dd5dcfa7bbee97cdfe6905f37c526453	The prenatal ultrasound identification of a cleft lip and palate, @PHENOTYPICFEATURE$ feet with severe lower limb malposition and genital abnormalities led to the prenatal diagnosis of @DISEASE$ in a pregnant mother suspected to have a mild expression of this autosomal dominant condition.	false
+353791e8a3c0cd751dbe207e259c68c8017d6cd6	@DISEASE$ is a well defined complex that consists of popliteal pterygium, intercrural pterygium, various @PHENOTYPICFEATURE$ that include hypoplasia or agenesis of digits, syndactyly, valgus or varus deformities of the feet and oral anomalies such as cleft lip-palate.	false
+599849da87ecac23e8a71eaa394c3ebfb7807e62	The patients with early @PHENOTYPICFEATURE$ were classified into two subgroups according to the pattern of the visual field (VF) defects: the paracentral scotoma (PCS, n = 54) and the peripheral scotoma (@DISEASE$, n = 52).	false
+579a72eb54ea084d3c84719f21429833070516be	A literature search failed to reveal otalgia, and facial @PHENOTYPICFEATURE$, thought to be related to a TMD, as the primary presenting symptoms of a @DISEASE$ neoplasm.	false
+81b9b6800e2debb386afb2af220eb1af94538496	Comparison between patients with no advanced disease (no criteria) versus advanced disease (at least one criteria) showed a significant difference in mean @DISEASE$, nutrition status, survival days, inhospital death, @PHENOTYPICFEATURE$, dependency on activities of daily living, and previous multiple emergency room visits.	false
+4c55fa6cf582d5a80a813fe937c7fdff8211a1a5	@DISEASE$ (DBA) is a congenital erythroid aplasia that usually presents as @PHENOTYPICFEATURE$ during infancy.	false
+652e0e3f74fa6f41d8edeca00b5f5b5b174ae48c	@DISEASE$: report of seven further mutations in the RPS19 gene and evidence of @PHENOTYPICFEATURE$ heterogeneity in the Italian population.	false
+4c55fa6cf582d5a80a813fe937c7fdff8211a1a5	@DISEASE$ (DBA) is a congenital erythroid aplasia that usually presents as @PHENOTYPICFEATURE$ during infancy.	false
+69445b37dcd71eb80834d600ba610712cfb9d0cd	While management is often successful, future studies should address the following three areas: a) optimization of thyroid hormone dose for treatment of myxedema @PHENOTYPICFEATURE$; b) clarification of the role of radiotherapy and/or chemotherapy for @DISEASE$; and c) more effective therapy for anaplastic carcinoma.	false
+ce71dfebce68ec536276f5703facaf3e9cceeafe	No severe adverse event including myelosuppression, @PHENOTYPICFEATURE$, liver functional impairment, intestinal pneumonia, or @DISEASE$ occurred, and the liver metastasis remained stable for 4 months.	false
+161ade2547ec98b01febaa7701e5cbabea55bafc	A 49-year-old woman suffered a severe case of @DISEASE$ when she was 12 years old, leaving her with bilateral @PHENOTYPICFEATURE$ and tympanic membrane perforations with extensive cholesteatoma.	false
+52b6112816b1a0928d8fb2afa003fdfc7c280d6c	Carbamazepine with the rare SNP allele of rs3909184 causing @DISEASE$, and aminoglycosides with rs267606617 causing sensory neural @PHENOTYPICFEATURE$.	false
+a3ca7f0c4e822e8aa3e4b763f6751f0d3551ef04	The SADR-Gengle database, which is made up of gene-SADR relationships extracted from Pubmed, has been constructed, covering six major SADRs, namely cholestasis, @PHENOTYPICFEATURE$, muscle toxicity, QT prolongation, @DISEASE$ and torsades de points.	false
+8a7d715fdd29ddcc466fde06c54368649e523ecb	After surgery, she developed @DISEASE$ with general skin lesions, @PHENOTYPICFEATURE$, genital mucosa erosion, oral ulcers, gastritis, and conjunctiva edema.	false
+4d2db5fe2519a4cd4cd52ceb6b7f18bb0c94c88c	@DISEASE$ @PHENOTYPICFEATURE$ as a common threat can lead to consensus regarding the interventions needed to achieve healthier children and communities.	false
+0556ca57e0eb44ef15fdfea1274fad2320d9fbf3	Risk factors for ION include prolonged surgery, extensive fusions, anemia, hypotension, hypovolemia, diabetes, @PHENOTYPICFEATURE$, use of the Wilson @DISEASE$, male sex, and microvascular pathology.	false
+9aca2f78cabddce8e0ba6049047eda2a2f17e90d	Risk factors associated with prone spinal fusion surgery and ischemic optic neuropathy identified in a large multicenter case-control study include male sex, @PHENOTYPICFEATURE$, use of the Wilson spinal @DISEASE$, longer anesthetic duration, greater blood loss, and a lower percentage of colloid in the nonblood fluid administration.	false
+41aa5b50eb1ff3a304b5b0885081c828cfd865e2	@DISEASE$ obesity: the framing contest between industry and public health at the New Zealand inquiry into @PHENOTYPICFEATURE$.	false
+94c58ec4b5bf285b4c1c5666c58904748c2d6ef0	To examine whether television news and current affairs coverage of overweight and obesity @DISEASE$ obesity in ways that support or oppose efforts to combat @PHENOTYPICFEATURE$.	false
+c8dee26841426c394d0b6b07b4290891ea0d23f9	To examine whether television news and current affairs coverage of overweight and @PHENOTYPICFEATURE$ @DISEASE$ obesity in ways that support or oppose efforts to combat obesity.	false
+9c461d3c45932bb253637493cb664fc2396ba297	To examine whether television news and current affairs coverage of overweight and obesity @DISEASE$ @PHENOTYPICFEATURE$ in ways that support or oppose efforts to combat obesity.	false
+5b7d9885c4172958fba9688103d2bcce61c1c07c	@DISEASE$ obesity control initiatives in the spirit of MPOWER strategies against tobacco should be considered to prevent and control @PHENOTYPICFEATURE$ and obesity-induced diseases.	false
+c3ee60cd04f1f2e12e4d95f717378ca2012a443c	@DISEASE$ obesity control initiatives in the spirit of MPOWER strategies against tobacco should be considered to prevent and control obesity and @PHENOTYPICFEATURE$-induced diseases.	false
+015b1dce16c215064d9e8368793ce7215e842803	@DISEASE$ is a disorder characterized by recurrent, discrete, stereotypical episodes of @PHENOTYPICFEATURE$.	false
+35352431555a6702cc5178b9ca6a30b4a177f2f6	@DISEASE$ (CVS) is a chronic functional gastrointestinal disorder characterized by episodic @PHENOTYPICFEATURE$ and is diagnosed using Rome IV criteria.	false
+f53f278d5fedaf9d9404f11fdfdc9125ca5d05d7	@DISEASE$ (CVS) is a chronic, recurrent disorder of unknown etiology characterized by episodes of @PHENOTYPICFEATURE$ lasting hours or days and separated by symptom-free intervals of weeks to months.	false
+de8f214c43714705d218a95855d87790ca410542	@DISEASE$ (CVS), defined by recurrent stereotypical episodes of @PHENOTYPICFEATURE$, is a relatively-common disabling and historically difficult-to-treat condition associated with migraine headache and mitochondrial dysfunction.	false
+a17ca18177c0a4ecb6526b843dabac1f880346a9	@DISEASE$ (CVS) consists of discrete episodes of @PHENOTYPICFEATURE$ lasting hours or days, separated by symptom-free intervals of similar or varying lengths.	false
+51e9f8b1e2141365012d4a2ffba49360034ab154	@DISEASE$ (CVS), which is defined by recurrent stereotypical episodes of @PHENOTYPICFEATURE$, is a relatively-common disabling condition that is associated with migraine headache and mitochondrial dysfunction.	false
+33ea524717a1e7f2c95a21cbaf5484111b0a239e	@DISEASE$ is an increasingly recognized cause of @PHENOTYPICFEATURE$ in adults.	false
+a51271b18a75a255ef447450f0b3a8085aebe280	@DISEASE$ is a functional disorder characterised by repeated episodes of @PHENOTYPICFEATURE$ with symptom-free intervals between the attacks.	false
+c71dcf4851ac51104e088db49d9f6fd220f46991	The third category, @PHENOTYPICFEATURE$ disorders, comprises chronic idiopathic nausea (frequent bothersome nausea without vomiting), functional vomiting (recurrent vomiting in the absence of self-induced vomiting, or underlying eating disorders, metabolic disorders, drug intake, or psychiatric or central nervous system disorders), and @DISEASE$ (stereotypical episodes of vomiting with vomiting-free intervals).	false
+222c63f6bfa9fd87808a7bf35a235e6ee98cc3f4	We have now done so by sequencing exon 5 of both of these genes in 13 unique @DISEASE$ pedigrees, members of which have had either uveal or cutaneous melanoma and/or @PHENOTYPICFEATURE$.	false
+86bc73eb6d4a0d4ab56c0a9310d1453635fc4aa0	A 23-year-old man presented with osteoporosis, revealed by femoral fractures, and a history of nephrolithiasis, @PHENOTYPICFEATURE$, metabolic acidosis, hypokalemia and @DISEASE$, a red blood cell abnormality common in malaria endemic regions.	false
+1a8585138dcd5ae02d810cb86c0134faf6794b5e	Mutations in CREBBP cause @DISEASE$, which is characterized by mental retardation, @PHENOTYPICFEATURE$ and congenital cardiac defects.	false
+041b65a23f38948c6129f36f7ef4afe3d367838a	@DISEASE$ is a rare congenital neurodevelopmental disorder characterized by dysmorphic features, @PHENOTYPICFEATURE$, growth deficiency, and mental retardation.	false
+9bf9b4157cd593f26a305101ef5fb710e9ec0ddd	@DISEASE$ (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, @PHENOTYPICFEATURE$, dysmorphic features and cognitive deficit.	false
+61dab5d5065b9ddcd729ac186c4247b4e0bac1f6	Cervical spondylolisthesis and other @PHENOTYPICFEATURE$ in @DISEASE$.	false
+42fefb3d3de98903b746301e87ff569d84551340	@DISEASE$ (RSTS) is a congenital disorder characterised by growth retardation, facial dysmorphisms, @PHENOTYPICFEATURE$ and mental retardation.	false
+cf88a24fbb57c3ea1fe13efd92ad4e7e570de55b	@DISEASE$ is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, @PHENOTYPICFEATURE$, peculiar facial morphology, and tumorigenesis.	false
+53770920b15e8c1faf449753a2c750e1c14ebb5f	@DISEASE$ (RSTS) is a well-known autosomal dominant mental retardation syndrome with typical facial and @PHENOTYPICFEATURE$.	false
+8d42cde8789aae8010bb975f5af570a05d2e8611	@DISEASE$ (RSTS) is a complex autosomal-dominant disease characterized by mental and growth retardation and @PHENOTYPICFEATURE$.	false
+9c6d190c21d5a32e43c8bd503cdba92f41c6a0ff	@DISEASE$ (RSTS) is an autosomal-dominant disorder characterized by intellectual disability, @PHENOTYPICFEATURE$, growth deficiency, and an increased risk of tumors.	false
+3d29c1dfaa2d3eb5816be6c0572fb6057efc8be4	@DISEASE$ (RSTS) is a rare congenital neurodevelopmental disorder characterized by growth deficiency, @PHENOTYPICFEATURE$, dysmorphic features, and intellectual disability.	false
+5616567419ff67336a255bf75d080019c86aad70	Subcutaneous edema in the limbs, typical @DISEASE$ features, and @PHENOTYPICFEATURE$ with optic atrophy are also present.	false
+def7f48f18426a18ef578b6328df331d5569901d	Subcutaneous edema in the limbs, typical @DISEASE$ features, and blindness with @PHENOTYPICFEATURE$ are also present.	false
+2ea51ef7bd3aafd8c69d22d2e0e7092928004c63	The most common early symptoms are facial neuralgia, @DISEASE$ hypoesthesia or @PHENOTYPICFEATURE$.	false
+bd233563e6d07ca7b38d8f016c7eeae7f71dd229	[Congenital @PHENOTYPICFEATURE$ in mandibulo-@DISEASE$ dysostosis].	false
+728caefd37f3b316daf957f0eae71a17caa653de	@PHENOTYPICFEATURE$ and visual acuity disturbances seem to be the most common ophthalmic presentations in cranio-@DISEASE$ trauma.	false
+244d4d823bcd4d836f0222b2c69df5e87a0d6547	Sudden @PHENOTYPICFEATURE$ following @DISEASE$ trauma.	false
+1ecb7daaca633f5989442a557111ecc2d191c75f	Myopathic @DISEASE$ features and @PHENOTYPICFEATURE$ became more pronounced with age.	false
+37017cc028ebe8dcd891d8ecd17e8758744c6093	There were no associated symptoms of @DISEASE$ weakness or @PHENOTYPICFEATURE$.	false
+c336d6a47194ca1d7193cd514361bf046635c936	Among 81 patients, those with facial weakness, hearing loss, and @PHENOTYPICFEATURE$ were most common, and only 1 patient had vertigo without hearing loss or @DISEASE$ weakness.	false
+4877403bb58d5b850b6d716c29ac68d970c5e0df	Among 81 patients, those with facial weakness, hearing loss, and vertigo were most common, and only 1 patient had @PHENOTYPICFEATURE$ without hearing loss or @DISEASE$ weakness.	false
+87d3683623e84721a09cfc0f183b4a3af69c6097	Among 81 patients, those with @DISEASE$ weakness, hearing loss, and @PHENOTYPICFEATURE$ were most common, and only 1 patient had vertigo without hearing loss or facial weakness.	false
+f53532ebd7ff6b59336c742167fde314d55f8f9f	Among 81 patients, those with @DISEASE$ weakness, hearing loss, and vertigo were most common, and only 1 patient had @PHENOTYPICFEATURE$ without hearing loss or facial weakness.	false
+0184fe993bc7f530332ed393082421db3a79384e	An 8-year-old girl with unilateral @DISEASE$ and ear pain and isolated frontal @PHENOTYPICFEATURE$.	false
+2164aa4579858416f753cdf833f8bfd161fa5be4	@PHENOTYPICFEATURE$ after @DISEASE$ trauma.	false
+10b403be53f0c136635a6bbcd5e779f296b125c5	The factors that we identified as associated with @DISEASE$ included: (1) Nurses: incorrect nursing care and insufficient IAD-related knowledge among nurses; (2) DEVICES: lack of skin barrier products and the use of diapers with poor air ventilation; (3) Regulations: lack of IAD care standards and lack of auditing oversight; (4) Patient problems: skin @PHENOTYPICFEATURE$, incontinence, and medication use.	false
+ea1fee0c2878b75d787ba1bf6b41925689ed6f3f	This hypothesis is based upon a family in which one child had @PHENOTYPICFEATURE$ and hydrocephaly and another had cardiovascular and other fissural anomalies, similar to @DISEASE$.	false
+1a6328d68576c4a45f6f03cc02ee9aaec8c360a2	Patients with @DISEASE$ can present with gonadal @PHENOTYPICFEATURE$, typically a dysgerminoma in their adult life.	false
+8e43adf2f8954e4e1097576a4ffa7a56264d4aa7	@DISEASE$: clinical presentations and management of the @PHENOTYPICFEATURE$ risk.	false
+4229a143e6147de43a1024a3643b941c55d32bb8	The first fetus had micrognathia, was without @PHENOTYPICFEATURE$, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and @DISEASE$.	false
+9be83472fc46cb9bfc8d0567e45df776da8dca50	We also suggest that normal pubertal development in patients with @DISEASE$ may be associated with the presence of a hormonally active @PHENOTYPICFEATURE$.	false
+5cd61c392a4e7eba458a10d3fe97d5dc59bb133a	Although pubertal development is unusual in @DISEASE$, it may occur in association with gonadal @PHENOTYPICFEATURE$.	false
+ab82844897f1f45f6a39dfe0411a85a3ce6d5f40	Gonadal @PHENOTYPICFEATURE$ and H-Y antigen in @DISEASE$.	false
+44d2636f5bc5b1adf87be3d125dea9b6030b874a	The aim of this work was to present our experience with @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+329e6d71c168152ef2e06f07b1ee3c20ea43d890	Among women with @DISEASE$, there is a high incidence of gonadal @PHENOTYPICFEATURE$.	false
+f02abeb28671bc62eeb837ed4880e54392631636	The @PHENOTYPICFEATURE$ that usually develops in @DISEASE$ is gonadoblastoma.	false
+49a71ec0d2c988f6e62b833bcdd53a8cdb943855	Incidental gonadal @PHENOTYPICFEATURE$ at the time of gonadectomy in women with @DISEASE$: a case series.	false
+442fc75b6aec18528f11f5ab5988009c863c9590	The neuropathological examination of the brain of a 4-month-old girl with @DISEASE$ (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and @PHENOTYPICFEATURE$) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of the hippocampal formation, in addition to periventricular cerebral nodules and extensive non-laminated cortical polymicrogyria of the fronto-parietal regions and gyrus cinguli of both hemispheres.	false
+1395ae89cb7834a42e425bc7d2b6960f33233177	Reviews on cortical visual impairment, @PHENOTYPICFEATURE$, @DISEASE$, and neuronal ceroid lipofuscinosis are presented.	false
+3ca3ebf87188c4f0e62b5e3e950f107a29f40206	The @DISEASE$ consists of infantile spasms, defects of the corpus callosum, dorsal @PHENOTYPICFEATURE$, and chorioretinal lacunar defects.	false
+6983dc343c4b15f9ab04cf3faaaa7fe536a8f977	This 14-day-old Japanese girl demonstrated the classic features of @DISEASE$, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, @PHENOTYPICFEATURE$, electroencephalographic abnormalities, and severe mental retardation.	false
+284f66f129ac913eca3c7a3324f7a2973013a3c8	Main clinical characteristics of Pena-@DISEASE$ are: multiple ankylosis, pulmonary hypoplasia and @PHENOTYPICFEATURE$.	false
+fb547e0af9076f3a846d5b4a6210276694bcdf33	@DISEASE$ is characterized by persistent patent ductus arteriosus (PDA) associated with hand-@PHENOTYPICFEATURE$ and distinctive facial dysmorphism.	false
+6e73250956b2cad4ae976631a1de798d85a93d19	a region associated with the microphthalmia-@PHENOTYPICFEATURE$ syndrome CATM and the @DISEASE$ ATR-16.	false
+9ae9ca5cfeea691dd2ddba2ed64476f973a35f2a	a region associated with the @PHENOTYPICFEATURE$-cataract syndrome CATM and the @DISEASE$ ATR-16.	false
+10e945b7837c2872d46c270ce8318c3634e1a602	The @DISEASE$ is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and @PHENOTYPICFEATURE$ in the feet.	false
+b56997f0bcf59a4ee425e8c36377244f89b630fa	More than 50% of patients with @DISEASE$ had @PHENOTYPICFEATURE$ or arthritis, and less commonly other rheumatic disorders.	false
+5ec22f6f4ec59fd6c78ca31a169bd2509ae6bb24	Sixty-four patients with AR, iridogoniodysgenesis (@DISEASE$), iris hypoplasia (IH), or @PHENOTYPICFEATURE$ (ASD) were screened for PITX2 mutations by sequencing.	false
+f63f1d046e315e5217fbd8d678d0b74c4ed5ecb4	All items fit the single construct, implying that the @DISEASE$ is a unidimensional measure of @PHENOTYPICFEATURE$ symptoms.	false
+175e6dd549007eb331dc220bb7dec4b8d3386923	We report a 10-year-old Arab girl proven to have @DISEASE$, with no history of asthma or allergic rhinitis, who presented with tender cutaneous nodules of lower extremities, foot drop, and peripheral @PHENOTYPICFEATURE$, without any clinical respiratory symptoms or signs.	false
+7c7abe0e363c93f37b3b060b9487e2129f34cd7d	A 38-year-old male with no history of asthma, who initially presented with episcleritis and subsequently developed symptoms of systemic vasculitis with marked blood @PHENOTYPICFEATURE$, was diagnosed as having Churg-Strauss syndrome (@DISEASE$).	false
+43b6464d9105fea2f0a64e0bf4375b92c0b539ae	Interestingly, our patient also showed congenital @PHENOTYPICFEATURE$, which has never previously been reported in @DISEASE$ patients.	false
+412966bfe92719c16947c8b827af231f321c4353	Churg-Strauss syndrome (@DISEASE$) is a multisystem disorder characterised by asthma, prominent peripheral blood @PHENOTYPICFEATURE$, and vasculitis signs.	false
+316912c691278dd400aad3d7f4640bdbb6d9df98	Despite significantly worse objective testing scores, patients with polyps report significantly better QOL as measured by the @DISEASE$ and less facial @PHENOTYPICFEATURE$/headache as measured by VAS scores pre- and postoperatively.	false
+7e4cff2fa5dab885b77d6dbbd75e26bf68f11a23	Patients with @DISEASE$ show a marked peripheral blood @PHENOTYPICFEATURE$, but the pathogenesis remains unknown.	false
+6be747f65e8c2a5b42eb42d7d4470464c968bc4d	Some leukotriene receptor antagonists, such as zafirlukast and montelukast, have been associated with systemic @PHENOTYPICFEATURE$, with interest focused on Churg-Strauss syndrome (@DISEASE$).	false
+f09ba25151a5d632d545e920d1ddaa14c35ee4b7	The 5-item Cataract Symptom Score (@DISEASE$) was developed using classical test theory to determine appropriate timing for cataract surgery, its outcomes, and whether the symptoms included bother @PHENOTYPICFEATURE$ patients.	false
+7e6c80bfd8ba3a395565835617927f67063e46a5	The 5-item Cataract Symptom Score (@DISEASE$) was developed using classical test theory to determine appropriate timing for @PHENOTYPICFEATURE$ surgery, its outcomes, and whether the symptoms included bother cataract patients.	false
+99d1fd4d80d10f7549e2f181f8d257dc15490c3e	Degree to which study subjects were "bothered" by @PHENOTYPICFEATURE$ symptoms was measured by using the 5-item Cataract Symptom Scores (@DISEASE$).	false
+58040d954d48b246d5198b3958a61711250716b5	In multivariate analysis, malnutrition (odds ratio [95% confidence interval] = 1.53 [1.22, 1.92]), age of the child (24-59 months; 1.67 [1.28, 2.19]), @PHENOTYPICFEATURE$ (1.65 [1.28, 2.12]), abdominal pain (1.87 [1.48, 2.37]), straining (5.93 [4.80, 7.33]), and infection with Shigella (3.26 [2.38, 4.46]) and Vibrio cholerae (2.21 [1.07, 4.58]) were shown to be significantly associated with @DISEASE$.	false
+e976ba9feb38d03c05acef7d8d5ce777406f13f3	@DISEASE$ is a rare disorder characterized classically by the tetrad of @PHENOTYPICFEATURE$ or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns.	false
+a606d822559aee8fafadf6eac8cd185cac014bdd	Mutations in LMX1B cause @DISEASE$ (NPS), an autosomal dominant disease with skeletal abnormalities, @PHENOTYPICFEATURE$, and nephropathy.	false
+1bea18c1eb6537caab40d7ff1de3b3ca0f23a08f	Previous studies have identified mutations in the RSPO4 and LMX1B components of the Wnt pathway in patients with the @PHENOTYPICFEATURE$ disorders anonychia and @DISEASE$, respectively.	false
+83dac4821c0c72f71b05505dd396b7463977956f	@DISEASE$ is a rare dysplasia characterized by a typical tetrad: hypoplasic @PHENOTYPICFEATURE$ or absent patella, radial head dislocation and iliac horns.	false
+2b9f16de048a7f798920817fa8b2b755062883cc	@DISEASE$ (NPS) is a pleiotropic condition characterized by dysplasia of the @PHENOTYPICFEATURE$ of the patellae, elbow dysplasia, and progressive kidney disease.	false
+129738b06ec2d76a0cd831753a4906fb478e423c	This work explores a new biomedical use of clinical @DISEASE$ and a promising cancer treatment protocol based on HTS-PEG hydrogel for magnetic hyperthermia combined with stimuli-responsive chemotherapy for @PHENOTYPICFEATURE$ postsurgical recurrence prevention.	false
+af3f6ecc4987005b0e568240a300634ff1117cf6	Hepatopathy-thrombocytopenia syndrome (@DISEASE$) is a severe complication very similar to vein occlusive disease (VOD), also known as hepatic sinusoidal obstructive syndrome (SOS), characterized by @PHENOTYPICFEATURE$, hepatopathy (hepatomegaly with abnormal liver function tests), ascites, weight gain, jaundice, and thrombocytopenia (platelet count less than 25 ? 10(3)/?L).	false
+e72dd86f07f3fde5d304e4be205fc0b1d2c82c7c	Due to the combination of anuria, mixed @PHENOTYPICFEATURE$ and hemodynamic instability, we started continuous renal replacement therapy (CRRT) in continuous veno-venous hemodiafiltration functionality with added hypertonic saline solution (@DISEASE$) protocol, calculated to stabilize his serum sodium between 148 and 150 mEq/L.	false
+be64be02f403d6792013a051c77797c3851fa5a2	Our objective was to establish the safety of 3% hypertonic saline (HTS) resuscitation for trauma and acute care surgery patients undergoing emergent laparotomy and temporary abdominal closure (TAC) with the hypothesis that @DISEASE$ administration would be associated with hyperosmolar hypercholoremic @PHENOTYPICFEATURE$, lower resuscitation volumes, and higher fascial closure rates, without adversely affecting renal function.	false
+bca552e61c8dfd3ca8f3868eca2b94a06ce498d9	Our objective was to establish the safety of 3% hypertonic saline (@DISEASE$) resuscitation for trauma and acute care surgery patients undergoing emergent laparotomy and temporary abdominal closure (TAC) with the hypothesis that HTS administration would be associated with hyperosmolar hypercholoremic @PHENOTYPICFEATURE$, lower resuscitation volumes, and higher fascial closure rates, without adversely affecting renal function.	false
+b2c9c41375b612bd45c82986440fc7c149490751	However, their use is limited by the development of cardiotoxicity (@DISEASE$), which is dose dependent and may lead to left ventricular dysfunction and @PHENOTYPICFEATURE$.	false
+7fa98868aad3a39c7fb74f430475c88cc41bddca	However, their use is limited by the development of cardiotoxicity (@DISEASE$), which is dose dependent and may lead to @PHENOTYPICFEATURE$ and heart failure.	false
+a2e046157df464ae48ab719c815bf91e8fddec07	@PHENOTYPICFEATURE$ is a life-threatening complication of high-dose cyclophosphamide (@DISEASE$) chemotherapy, and the present study aimed at identifying the mechanism involved in mice.	false
+b2c9c41375b612bd45c82986440fc7c149490751	However, their use is limited by the development of cardiotoxicity (@DISEASE$), which is dose dependent and may lead to left ventricular dysfunction and @PHENOTYPICFEATURE$.	false
+99a35899993046283253539b0a5f269efe408d96	In this small pilot study, eleven patients with chronic ischemic cardiomyopathy, ejection fraction (EF) <25%, no inducible ischemia and @PHENOTYPICFEATURE$ class NYHA III underwent @DISEASE$.	false
+7466ed1457a46b40e972cc84ddf421d12ae74946	The concentration of TP of pulmonary heart disease with heart failure was higher than without heart failure at 6 h when alone were used or simultaneous were used (P < 0.01), @DISEASE$ wasn't correlated with @PHENOTYPICFEATURE$.	false
+1cb3823ed808c159ab8a442d64970afb066adaf5	The concentration of TP of pulmonary heart disease with @PHENOTYPICFEATURE$ was higher than without heart failure at 6 h when alone were used or simultaneous were used (P < 0.01), @DISEASE$ wasn't correlated with heart failure.	false
+568c3b90d662edaf69aabdc77f0973221b07d097	The concentration of TP of pulmonary heart disease with heart failure was higher than without @PHENOTYPICFEATURE$ at 6 h when alone were used or simultaneous were used (P < 0.01), @DISEASE$ wasn't correlated with heart failure.	false
+2f84a29c60bca366291e8560a894288dd5c4dd5c	Exposure to daily @DISEASE$ in pregnancy may not be associated with particular safety risks in terms of birth outcomes such as preterm deliveries, still births, neonatal deaths and @PHENOTYPICFEATURE$ compared to SP.	false
+36b4570898d5df27705a81312773bc6396eeac2f	But a minority of underlying diseases (angiokeratoma corporis diffusum, @DISEASE$, diabetes mellitus, galactosemia, @PHENOTYPICFEATURE$, Refsum's disease, Wilson's disease; Charles Bonnet syndrome; relapsing Perichondritis; adverse effects of medication and intoxications) can be treated causally.	false
+187cc253e4cdba015a1b851f58652790a3ac2e6c	Whether @DISEASE$ affects exercise-induced changes in cardiac deformation and mitral regurgitation (MR) in patients with end stage @PHENOTYPICFEATURE$ has not been studied.	false
+c9085ecbea7ecaef7402cbeb3bd3d76cad56e3e0	@DISEASE$ may improve cardiac deformation and MR during exercise in patients with severe @PHENOTYPICFEATURE$ when viable areas are targeted.	false
+6c5e82d0759bf97dc7ecd2cbaeff9c39ba814235	In conclusion, @DISEASE$ may improve cardiac deformation and MR during exercise in patients with severe @PHENOTYPICFEATURE$ when viable areas are targeted.	false
+62cee505ce2346fe0f98fb7af371c1cb2d18ecd1	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., @DISEASE$, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+a656686a8b76215f99d39170d865adb5694dc21a	Overall, our case series extends the phenotype and suggests that protein kinase C? gene mutations should be considered in patients with slowly progressive autosomal dominant cerebellar ataxia, particularly when @DISEASE$, or mild @PHENOTYPICFEATURE$ are present in the absence of polyglutamine expansion.	false
+f6abb4e734b016e1ba342f394b9aabcac4d45d65	Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing @DISEASE$, @PHENOTYPICFEATURE$, and psychosis.	false
+1f9e6b2ecd6693763511db03ee686a0fde29ae67	Corticobasal syndrome (CBS) is a neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia, cortical sensory loss, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9b2e15eb0c8f9d6041fdd3576527b73dde1840a3	Her neurological examination demonstrated mild @PHENOTYPICFEATURE$, @DISEASE$, and skeletal anomalies.	false
+99823e57580a640f4c33fdc78002a8dbed3e220d	After transplantation, a number of events may lead to progressive deterioration of renal function and graft loss, which include delayed graft function, acute rejection, viral @PHENOTYPICFEATURE$ disease, drug nephrotoxicity, non-compliance and @DISEASE$.	false
+302ec8638688e928fffc40718a9476a4e065072e	The quantitative assessment of renal blood flow (RBF) may help to understand the physiological basis of kidney function and allow an evaluation of pathophysiological events leading to vascular damage, such as renal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1078260ee911f6a45b74ed2e7ab3e7e333aad3fc	CRAD has been defined as a progressive renal dysfunction, independent of acute rejection, drug toxicity and recurrent or de novo @PHENOTYPICFEATURE$, with features on biopsy of @DISEASE$ (CAN) characterised by vascular intimal hyperplasia, tubular atrophy, interstitial fibrosis and chronic transplant glomerulopathy.	false
+34526f21457a44f2eb3bd5295dfe5c2b4ad4a0cd	@PHENOTYPICFEATURE$ is common in patients with @DISEASE$.	false
+137c3160a65b03e330eee8a1788a3424eee1e0fc	Clinicians should be aware of the high prevalence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+b05aa8056634b0fcc9f9c284fdd8761257c2e92c	Eye movements evoked by electrical vestibular stimulation (@DISEASE$) offer potential for diagnosing @PHENOTYPICFEATURE$.	false
+00cc5356c7e048dd2ab35b38e15305849ddef26e	Of those ears with @DISEASE$, 29 (78.4%) had one or more inner @PHENOTYPICFEATURE$.	false
+e6166d51002c1359520aa7925e76a9c15424b190	Carotid atherosclerosis (CA) may be causative in the development of WMH, SBI and @DISEASE$ @PHENOTYPICFEATURE$.	false
+2bd0b1e8972b7907aac7b3e822c7f9d9efc8b1f9	Enlarged vestibular aqueduct (@DISEASE$) is an inner @PHENOTYPICFEATURE$ occasionally associated with sensorineural hearing loss (SNHL) and/or dizziness.	false
+4a01b69e7fdde9d35cf40ac43fc0f4fc01910e2d	Enlarged vestibular aqueduct (@DISEASE$) is an inner ear anomaly occasionally associated with @PHENOTYPICFEATURE$ (SNHL) and/or dizziness.	false
+1176ef5e2e829a9e724477ca638b9a9d3894e5d8	Review of radiographs was done to evaluate for the presence of @DISEASE$ and other inner @PHENOTYPICFEATURE$.	false
+f0e5ce9523f0dc6fdc94d0531f550223defe7ab4	If left untreated, permanent @PHENOTYPICFEATURE$ or @DISEASE$ blindness may ensue.	false
+f171907d8ec34a5e5bfedbd929040a65178e5916	While a strong correlative relationship between @DISEASE$ and hearing loss is well established, its association with @PHENOTYPICFEATURE$ is less well understood.	false
+82b7e3e394068f955f7792ea0eef29a28a632c16	If not treated properly, it will cause @PHENOTYPICFEATURE$ and @DISEASE$ blindness.	false
+3547fc983b102d10e2cd5bab0b283cbcdab30dcf	To investigate whether this HSE of p67 has any role during heat-shock, rat @PHENOTYPICFEATURE$ hepatoma cells were transiently transfected with CAT reporters linked to p67 promoter with @DISEASE$ and without HSE.	false
+904170076a39a6a2a3cb376dfcee72ed5a472427	Identical samples containing polynucleosomal chains of chicken erythrocyte (CE) and Ehrlich ascites @PHENOTYPICFEATURE$ (EA) chromatin were studied under various ionic conditions with regard to electric linear dichroism (ELD) and flow linear dichroism (@DISEASE$).	false
+32b0e89ac0bd638a112a7f985a848ebc75a31fb3	We conclude that IFN induction is not essential for NK(@DISEASE$-3) cell-mediated lysis; indeed IFN detected in NK cell assays may be produced in response to mycoplasma infection of the @PHENOTYPICFEATURE$ cells.	false
+b5440edb08d694430dcfeafd6f1b31e778b627ae	@DISEASE$, but not GSA-K, is an index that reflects diminished regional liver function caused by portal flow obstruction or @PHENOTYPICFEATURE$ compression.	false
+367ec63711f9974f1af7832882f3faf49b59a075	In this work, we have tried to further improve the ability of this technique to discriminate between areas of @PHENOTYPICFEATURE$ and normal skin by implementing texture analysis and Fisher linear discrimination (@DISEASE$) on bispectral fluorescence data of BCCs located on the face.	false
+b50cb2e214d650ce072a4fdf7503706cfe636bf7	The stimulus for IFN-gamma induction appeared to be Mycoplasma arginini carried in the @DISEASE$-3 @PHENOTYPICFEATURE$ cells.	false
+6d25c4f70190d007d76225657ab466d164d05740	Differences in @DISEASE$ and GSA-K in @PHENOTYPICFEATURE$-bearing (T+ group) and tumor-free (T- group) segments in patients with no tumor embolus (Group?N) were also compared.	false
+998fdb701d97586dce40e27429bfc568e0cebbdd	Differences in @DISEASE$ and GSA-K in tumor-bearing (T+ group) and tumor-free (T- group) segments in patients with no @PHENOTYPICFEATURE$ embolus (Group?N) were also compared.	false
+ac9ff74d226d9b239e333f8a398babbca25f377c	Differences in @DISEASE$ and GSA-K in tumor-bearing (T+ group) and @PHENOTYPICFEATURE$-free (T- group) segments in patients with no tumor embolus (Group?N) were also compared.	false
+b09eb7d599d7ecb8db477807428678f73f88d572	Our results imply that @DISEASE$ and texture analysis are preferential for correlation between bispectral fluorescence images and the histopathologic extension of the @PHENOTYPICFEATURE$.	false
+f1cafc8a78f598b9c34e16d5e894ef5df4dacbe4	Differences in @DISEASE$ and GSA-K in intrahepatic segments were compared in patients with a @PHENOTYPICFEATURE$ embolus (Group Y) and those without such an embolus (Group?N) in the right portal vein.	false
+d6fb858e9f04bf19f62eb7793932fb42ee14d93c	In stage III (35 +/- 14% 5 years SR for SLD; 37 +/- 12% 5 years SR for @DISEASE$) the predominant influence of the @PHENOTYPICFEATURE$ invasion in renal veins cannot be influenced by local extension of the operation.	false
+a5b820a98297092173ff165abdf70e07ffbe2215	There was a high rate of other @PHENOTYPICFEATURE$, which often coexisted and were not clearly related to the LVNC, present in 8 cases (nonisolated LVNC): ventricular septal defect (4/14), anomalous venous pulmonary veins (1/14), coronary ostial stenosis (1/14), @DISEASE$ (1/14), polyvalvar dysplasia (2/14), and pulmonary stenosis (2/14).	false
+75f898b214ba3c5493b5cf40d55451a632645c4a	Multivitamin supplementation has been advocated to reduce cardiovascular events; Vitamin D levels have been associated with the occurrence of coronary artery disease, @PHENOTYPICFEATURE$, and atrial fibrillation; @DISEASE$ has been associated with myocardial dysfunction and with statin myopathy; probiotoics has been suggested to lower both blood pressure and circulating lipids.	false
+9a3ece15acd0abe7dd7e0c3bd4cfa731e81632f5	@DISEASE$ may be associated with a multitude of diseases including @PHENOTYPICFEATURE$.	false
+523bf1db8c6469ba063bb60c1995b85591e8a072	@DISEASE$ has been observed in patients with @PHENOTYPICFEATURE$, angina pectoris, coronary artery disease, cardiomyopathy, hypertension, mitral valve prolapse and after coronary revascularization.	false
+6eb34c3df099edb9709e205537d88d1abe1b985b	@PHENOTYPICFEATURE$, deafness and hearing loss have also been described in @DISEASE$ patients.	false
+023ba47ddcbcc1fd204e9fb6ff75e61f5e09ae54	Growth retardation, @PHENOTYPICFEATURE$ and hearing loss have also been described in @DISEASE$ patients.	false
+f50127bf8ecfe5a424d80ba7045690ffcf4974f5	While the therapeutic utility of CoQ10 supplements is recognized in the rare cases of primary @DISEASE$, a potential role for CoQ10 supplements in cardiovascular disease, particularly @PHENOTYPICFEATURE$, has also been studied for over 40 years.	false
+4932aeaa50b4230f51f6952e0fd0a281023ee28a	@DISEASE$ has been observed in patients with @PHENOTYPICFEATURE$, angina pectoris, coronary artery disease, cardiomyopathy, hypertension, mitral valve prolapse.	false
+4d6a70f708837eeb6edd046442061659b0d35a53	ROR2 is mutated in hereditary @PHENOTYPICFEATURE$ with nail dysplasia, but not in @DISEASE$.	false
+57d0a2e59aeb89e4d9ec75a3d5826a4ef5e02297	We describe a case of a woman who presented with severe hypercalcaemia, developed the @PHENOTYPICFEATURE$-lymphodema syndrome and fulfilled the diagnostic criteria of @DISEASE$.	false
+f27e640cc791d567cde75f0503dfaf2e9e2953a1	We describe a case of a woman who presented with severe @PHENOTYPICFEATURE$, developed the hypercalcaemia-lymphodema syndrome and fulfilled the diagnostic criteria of @DISEASE$.	false
+800e7a8acf537d05156ead7cf4fecd5c97a797b5	Transition from @DISEASE$ to common variable @PHENOTYPICFEATURE$.	false
+8f05cc3bcc199395f8ffd216cf487c68ba7c30ac	Conversion of @DISEASE$ to common variable @PHENOTYPICFEATURE$.	false
+bd3a0fd7d615ba3384d617906f0f706e6d432880	@PHENOTYPICFEATURE$ was more marked in RA patients than in @DISEASE$ patients.	false
+8c150178a1cde0d99cbbcdf70699be8d5548ad28	Lymphocyte subset T4/T8 ratio in @DISEASE$: correlation with disease activity, @PHENOTYPICFEATURE$ and treatment.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+9791934656351ecfdbb5e6a53bd06f988c586c15	The association of @PHENOTYPICFEATURE$ and connective tissue disorders, including @DISEASE$, was scarcely described in the literature.	false
+db9ab7a4953f963ecf64743752387caa5b50263e	@DISEASE$ and transient @PHENOTYPICFEATURE$.	false
+d0d4e62efc24d84363151b543aa124a04cbdbdad	Concurrent @DISEASE$ and common variable @PHENOTYPICFEATURE$.	false
+6b19f76a6559a6b2b9ad9eb0c8fd75e84da5b382	Two patients with @DISEASE$ (SLE) presented with anasarca, pleural effusions and severe @PHENOTYPICFEATURE$.	false
+e608b0945613290fc3cf20bcbff48ccc865c9dcd	Multivariate Cox regression adjusted for @DISEASE$ findings and @PHENOTYPICFEATURE$ was performed for the combined endpoint of cerebral ischemic events, cardiac ischemic events and death of vascular or unknown cause.	false
+69a9b6ff1075cf14a6bf5d6e4a2edb9fe9d20f75	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$ affecting both the mitochondrial and the cytosolic enzymes.	false
+68597d7b38f19bdc1588ab0536a1e122e263281d	@DISEASE$: a new organic aciduria, associated with @PHENOTYPICFEATURE$ and speech impairment.	false
+f2bfbda8f97b90c1cd88fbeda3b606c954ca737e	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive @DISEASE$ in early childhood with failure to thrive, seizures, developmental delay, @PHENOTYPICFEATURE$, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	false
+72fc5f9fd6425d33ca393c0c895a67c62a4abc4e	Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive @DISEASE$ in early childhood with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.	false
+bf5f6c07e9d91ca3332e2c284937c101622b67d1	2G7 treatments significantly attenuated APAP-induced serum elevations of alanine aminotransferase and microRNA-122 and completely abrogated markers of @DISEASE$-induced inflammation (@PHENOTYPICFEATURE$ necrosis factor, monocyte chemoattractant protein 1, and chemokine [C-X-C motif] ligand 1) with prolonged therapeutic efficacy as compared to NAC.	false
+c906164f9a9dd3b0eae7ed83957a5fe6b403b4d8	The characteristic facies, @PHENOTYPICFEATURE$, muscular hypotonia, and growth and developmental delay of the @DISEASE$ were present in a 19-month-old boy.	false
+bef13ee68014f642563603cab356bee34f957ec1	@DISEASE$ is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, @PHENOTYPICFEATURE$, arachnodactyly, failure to thrive, and, infrequently, renal anomalies.	false
+45cb200d309c96d7268ce6317d1920a8b983021c	The @DISEASE$ is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and @PHENOTYPICFEATURE$.	false
+9c4e9c982e7fbaa50d4a85d9ad6d53831c9ada32	We present a girl with the characteristic clinical picture associated with @DISEASE$ (MWS; OMIM 248700), including mask-like face with blepharophimosis, @PHENOTYPICFEATURE$, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis.	false
+a2ccd761361153967ba174437841b9a11f9fb34e	Final diagnoses included @PHENOTYPICFEATURE$ (16), small-for-dates (SFD) infant without any abnormalities (seven), chromosomal abnormality (three), pyruvate dehydrogenase complex deficiency (one), @DISEASE$ (one), and suspected Freeman-Sheldon syndrome (one).	false
+bec010e11a8c867141efbf435d4c5ae562dd4c80	@DISEASE$ present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and @PHENOTYPICFEATURE$.	false
+bd0cb8aa9ff52ec6c82c59eed2c3f247f94b8cee	Thirty-nine patients (20.4%) had opportunistic infections/@PHENOTYPICFEATURE$ including candida esophagitis, CMV esophagitis, CMV gastritis, gastric non-Hodgkin's lymphoma (NHL) and gastric @DISEASE$.	false
+e13aeec6725fbd92520f25364109d6ebd7475585	Phase 1 (Days 1-30) includes @PHENOTYPICFEATURE$; diffuse alveolar hemorrhage; and various bacterial, fungal, and viral infections; Phase 2 (Days 31-100) usually requires a distinction between cytomegalovirus pneumonitis and idiopathic pneumonia syndrome; and Phase 3 (Day 100+) includes complications that are due to @DISEASE$ and associated bronchiolitis obliterans.	false
+cbfd67d4485394fa40bcd3a1c62c5630cf891194	@DISEASE$ in a pair of blind, @PHENOTYPICFEATURE$ male twins.	false
+28dd79eef590672c3ad68ad20ec229c8c86eb899	We report two brothers who presented with @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other.	false
+a3862baa9477814330ca3b81d57b2224344ac849	Treacher Collins syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle.	false
+10ef86ade4a1a18aeee3164e0d1c47d1192c5b39	@DISEASE$ (Mandibulofacial dysostosis) is characterized by @PHENOTYPICFEATURE$, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle.	false
+3823bd8023dcb77a535e7e41bb65eebe406438c4	@DISEASE$ is a form of mandibulofacial dysostosis characterized by @PHENOTYPICFEATURE$, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of auricle.	false
+d81e8323091b6446f6c4efc61e57428a7c456493	@DISEASE$ is an autosomal dominant malformation incorporating a number of facial and @PHENOTYPICFEATURE$.	false
+5377a08b85778192d6371e08acc8ba004ac25e74	Abnormal development of NCCs causes a number of human diseases, including ear abnormalities (including @PHENOTYPICFEATURE$), heart anomalies, neuroblastomas, and @DISEASE$ (Hall,2009).	false
+c49f66c2fdd5456ac38602b3e356e91b8a65648c	The region has also been linked to at least four other genetic diseases, @DISEASE$, diastrophic dysplasia, limb-girdle muscular dystrophy, and an autosomal dominant @PHENOTYPICFEATURE$, by linkage analysis.	false
+b580c6714f51150e1c9dce089f3e92e53ccfd0eb	We report a boy who presented with mild @DISEASE$, @PHENOTYPICFEATURE$ with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism.	false
+e72613a26fe0ecd1e7befb618f19d77a6aa65f26	This is also the general region into which several disease genes have been mapped, including diastrophic dysplasia, @DISEASE$, hereditary startle disease, the myeloid disorders that are associated with the 5q-syndrome, autosomal-dominant forms of hereditary @PHENOTYPICFEATURE$, and limb girdle muscular dystrophy.	false
+845cf3a9cba9c03db895008c578bd384f977333d	@DISEASE$ (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and @PHENOTYPICFEATURE$.	false
+1f8b6826285831488d78bfe6c3804897254d106d	@PHENOTYPICFEATURE$ and the @DISEASE$.	false
+4ea9f699eb066132c082a7a7af5269dfd57c934d	@DISEASE$ and @PHENOTYPICFEATURE$ association.	false
+553a2920a6aa75ababb7b9433075721412e9b60c	@DISEASE$ is associated with a high incidence of atrial and @PHENOTYPICFEATURE$.	false
+8de3c2a21b0e143fea52da10bb4b2403cb10c92f	Familial @DISEASE$, @PHENOTYPICFEATURE$, and ventricular septal defect associated with an MYH7 mutation.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+ac8fafcf9e49f899e2180177672506038b753e28	@DISEASE$ may be seen in association with other cardiac conditions, including patent foramen ovale, atrial septal defect, and @PHENOTYPICFEATURE$ (LVNC).	false
+59ee4307844e1efc1997118197ece4e2b5fa45e3	Cardiac arrest and @PHENOTYPICFEATURE$ in adults with @DISEASE$ and left ventricular non-compaction.	false
+1dd10a143ff71c3339cab9f58e4198e89afc8ccc	A rare case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+8c1e97e9d5b179e6a6bb34cb090a60da9b60eb34	An association between Ebstein anomaly with @PHENOTYPICFEATURE$ (LVNC) and mutations in MYH7 encoding ?-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with @DISEASE$ in a large population-based study.	false
+3a0f0ba72462039be75aa1457b3ae7bb38fec9c9	An association between @DISEASE$ with @PHENOTYPICFEATURE$ (LVNC) and mutations in MYH7 encoding ?-myosin heavy chain has been shown; in this report, we have screened for MYH7 mutations in a cohort of probands with Ebstein anomaly in a large population-based study.	false
+7722d02f2c907228f8c94cd0e90a07f235300216	Coronary artery disease, autoimmune disorders such as systemic lupus erythematosus or rheumatoid arthritis, history of acute or chronic infectious or hypersensitivity myocarditis, infiltrative processes, hypothyroidism, congenital cardiopathies such as @PHENOTYPICFEATURE$ or @DISEASE$, lamin A/C mutations, and pathologic hypervagotony and idiopathic degenerative scleroatrophy of the atrioventricular junctional specialized tissue (Lenegre-Lev disease) are among the most frequent etiologies of complete atrioventricular block in young or middle-aged adults.	false
+a2125052db37d4bc4224addd63e9fbce8e533c62	Adult-onset @DISEASE$ with palatal myoclonus and intraventricular @PHENOTYPICFEATURE$.	false
+55643784fb1bab9e7de151aeb75d146228e1c0cb	In the diagnosis of neonatal @DISEASE$, it is essential to rule out other causes of leukodystrophy and the presence of @PHENOTYPICFEATURE$.	false
+1f35d4112bea3faf1fd93b6c1f6a94200a42f1fc	Rare radiological and pathological @PHENOTYPICFEATURE$-like lesions have already been reported in @DISEASE$ patients.	false
+cad18ee5031823f46801654a8a036aeca94a8591	In addition to typical @DISEASE$ abnormalities, magnetic resonance imaging demonstrated a @PHENOTYPICFEATURE$-like lesion of the optic chiasm suggestive of a glioma.	false
+036dbd558cbb480b0537d7b935b5f8213fb3303c	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: @DISEASE$; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+48ef6b6cd1169036c01bf3cade62ed79c54e61c3	We herein review genetic, pathological, and molecular evidence for the emerging link between autophagy dysfunction and lysosomal storage disorders such as Niemann-Pick type C, progressive @PHENOTYPICFEATURE$ epilepsies such as Lafora disease, and leukodystrophies such as @DISEASE$.	false
+b00b248709eb3153e3aaf19ba7df161ff9f7753a	This report reviews the neuropathologically observed intracellular inclusions known as Rosenthal fibers in the context of @DISEASE$ and slow-growing @PHENOTYPICFEATURE$ such as pilocytic astrocytoma.	false
+8ed9ca3cc38c26793a14e83c3156ebabcc12bb7e	Recent studies have revealed that ?B-crystallin plays a beneficial role in a mouse model of multiple sclerosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+048e1939390f5ec55a0760aef7264998a7a475aa	@PHENOTYPICFEATURE$ 2 (1.0%), @DISEASE$ (2.0%), glaucoma 3 (1.5%)	false
+f1d8e63c5dbee3ad7c5f29374004df500d5f91ca	The 9 most common paraneoplastic and metastatic cutaneous manifestations of malignancies found in women with gynecologic or breast disease are reviewed including a review of multicentric reticulohistiocytosis, dermatomyositis, malignant acanthosis nigricans, erythema gyratum repens, @PHENOTYPICFEATURE$ lanuginosa acquisita, Sweet syndrome, @DISEASE$ Paget disease, and Sister Mary Joseph nodule.	false
+cd4ba7ac708ec759c2045cd2cc3e44037df32f45	We present a family with @DISEASE$, with @PHENOTYPICFEATURE$, no phenotypic characteristics of GHD and a novel nonsense mutation in exon 3 of the GH1 gene.	false
+c47953f54c4910c7f1f1bd85198a32087e2e4cfd	[A family with blepharophimosis, @PHENOTYPICFEATURE$, epicanthus inversus and @DISEASE$.	false
+3d78eeb2dc65aeb6bd70aeca6c35e3af9c72b511	The external signs include short palpebral fissures, @DISEASE$, epicanthus, blepharoptosis, @PHENOTYPICFEATURE$ and strabismus.	false
+9166da861b5849e43e88dc7245e9468bd05e0bf4	BPES's main clinical manifestations is blepharophimosis, @PHENOTYPICFEATURE$, epicanthus inversus, and @DISEASE$.	false
+a3e16ebfc82998a10e9c62ca3f2a49d76ee299d0	Blepharophimosis, @DISEASE$, microstomia, and unusual @PHENOTYPICFEATURE$ (Simosa syndrome) in an infant.	false
+716404bad056a0b00be256bd5390452cd9314bf2	Blepharophimosis, @PHENOTYPICFEATURE$, epicanthus inversus, @DISEASE$, amblyopia, and menstrual abnormality in sisters.	false
+51822c906b0087f61fb1fdb00938db850a664559	We report on a 1-month-old infant with blepharophimosis, @DISEASE$, @PHENOTYPICFEATURE$, and microstomia.	false
+1b5a8a4a96e0ddb84f6caf0cad3daafa4c001776	The condition is associated with orbital phimosis, upper @PHENOTYPICFEATURE$, epicanthus and @DISEASE$.	false
+f17b657d21eee1a025d739c558348c88f371b0e1	It is characterized mainly by @PHENOTYPICFEATURE$, palpebral phimosis, @DISEASE$, and epicanthus inversus.	false
+794a9559d52a1bbf9ee43e9a2ce6ded95880cae9	Hypertelorism/@DISEASE$, abnormally slanted palpebral fissures, @PHENOTYPICFEATURE$ findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea were found.	false
+6dc95af0525f113828671ded1af18b192352fb05	Diagnostic criteria include blepharophimosis, @PHENOTYPICFEATURE$, epicanthus inversus and @DISEASE$.	false
+3030fc910f24f796fa007a544a8d26d64c6974f2	@DISEASE$/congenital disorder of glycosylation IIc (LAD II/CDG IIc) is a genetic disease characterized by a decreased expression of fucose in glycoconjugates, resulting in leukocyte adhesion deficiency and severe morphological and @PHENOTYPICFEATURE$.	false
+b41a6bbb0a6b68115c8054daae66103fc6b03e0b	Leukocyte adhesion deficiency/congenital disorder of glycosylation IIc (LAD II/CDG IIc) is a genetic disease characterized by a decreased expression of fucose in glycoconjugates, resulting in @DISEASE$ and severe morphological and @PHENOTYPICFEATURE$.	false
+66f013ab0a55f634951358a5519546f5e785ea76	Patients who are diagnosed with Brugada syndrome (BS) usually experience sudden cardiac arrest (@DISEASE$) and @PHENOTYPICFEATURE$ when they have a high fever, consume alcohol, and, more frequently, during their night sleep.	false
+3ab584a2172068cb047385c130f425a7484c3b73	He presented with a @PHENOTYPICFEATURE$, a depressed nasal bridge, low-set ears, thick lips with peg-shaped teeth, hypohidrosis, sparse hair, thin atrophic skin, @DISEASE$ dermatitis with frontal bossing, and a bulging anterior fontanel.	false
+e9ada6fd0ac04e21e43da38b9fcb72cb8d345e89	He presented with a large head, a depressed nasal bridge, low-set ears, thick lips with peg-shaped teeth, @PHENOTYPICFEATURE$, sparse hair, thin atrophic skin, @DISEASE$ dermatitis with frontal bossing, and a bulging anterior fontanel.	false
+ed68a0495d246d2d6ad8628cb59d78bb86e861e1	Sleep breathing disorders, disorders of excessive sleepiness and sleep @PHENOTYPICFEATURE$ scores were also higher among those @DISEASE$ patients who were using hydroxyurea than those with SCA who were not using hydroxyurea [7.4 (3.9) vs. 5.9 (2.9); p?=?0.026; 7.5 (3.5) vs. 6.9 (3); p?=?0.028; 4.3 (3.1) vs. 3.9 (2.6); p?=?0.044, respectively].	false
+27661d445c1d3464b14d1f1a9de78f4b31d84bb2	Sleep breathing disorders, disorders of excessive sleepiness and sleep @PHENOTYPICFEATURE$ scores were also higher among those SCA patients who were using hydroxyurea than those with @DISEASE$ who were not using hydroxyurea [7.4 (3.9) vs. 5.9 (2.9); p?=?0.026; 7.5 (3.5) vs. 6.9 (3); p?=?0.028; 4.3 (3.1) vs. 3.9 (2.6); p?=?0.044, respectively].	false
+de5c461fcfe74cfaea11bd5cb7ffc464a4c03b2d	We report a case of acrokeratosis paraneoplastica (AP; Bazex syndrome), characterized by typical @PHENOTYPICFEATURE$ and psoriasiform @DISEASE$ erythema of the acral regions, associated with primary cutaneous squamous cell carcinoma (SCC) on the left lower leg.	false
+1183bf0e47440ea308f84c199f55a99c8b76d42e	Clinically, both show signs of @DISEASE$, although the daughter is the most affected with early onset cerebellar ataxia, @PHENOTYPICFEATURE$, and severe mental retardation.	false
+a36b8f8e4255cceffebd53cf1977de67483eba3e	Superficial temporal artery (STA) to superior cerebellar artery (@DISEASE$) bypass is associated with a relatively high risk of surgical complications, such as hematoma and/or @PHENOTYPICFEATURE$ caused by temporal lobe retraction.	false
+dd30405cbe51a2168986123f6fc5ee0293eccd5a	To date, at least fourteen neurological disorders are associated with this phenomenon, including Huntington's disease (HD), dentatorubral and palidoluysian atrophy (DRPLA), spinobulbar and @PHENOTYPICFEATURE$ (SBMA), myotonic dystrophy (DM), fragile X syndrome, FRAXE mental retardation and spinocerebellar ataxias (@DISEASE$) types 1-3, 6-8, 12 and 17.	false
+f7154894e225ba53bb13587408dcc67979142e26	INTRODUCTION Unexplained sudden cardiac arrest (@DISEASE$), occurs in up to 10% of patients and is often attributed to an inherited @PHENOTYPICFEATURE$ syndrome.	false
+cb2e1158956aed9f27fd887f2ffd58708074c9b0	The purpose of this study was to determine the serum level of selected inflammatory cytokines, such as interleukin-6 (IL-6), interleukin-8 (IL-8), and @PHENOTYPICFEATURE$ necrosis factor ? (TNF-?) and to compare their diagnostic power as a markers of @DISEASE$ in children.	false
+b4d2ba5a83feb9a19dcc6b3e62239d4d202a1b3f	Optic atrophy was present most frequently in @DISEASE$ (five of 22 patients) and @PHENOTYPICFEATURE$ ataxia (two of eight patients), followed by Friedreich's ataxia (three of 26 patients).	false
+80de76e85dbf0874b911e2b36643e57bdc868d9d	Patients were classified as having Friedreich's ataxia, spinocerebellar degeneration, cerebellar degeneration, familial or sporadic olivo-pontocerebellar atrophy, multisystem atrophy, @DISEASE$, @PHENOTYPICFEATURE$ ataxia, or other diagnoses such as mitochondrial myopathy.	false
+67cc5da9629dbe36e2c473ca6697683437b8da45	Oral, facial, digital, @PHENOTYPICFEATURE$ with psychomotor delay: a mild form of @DISEASE$ type Gabrielli?	false
+aa6673bf94ab225feac5946eb26316d96796366c	Based on the literature and this study we suggest as diagnostic criteria for @DISEASE$ VI: MTS and one or more of the following: 1) tongue @PHENOTYPICFEATURE$(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.	false
+d79fc8d504ec208f6d885f5e033ba934c1649af3	Oral-facial-digital syndrome type VI (@DISEASE$ VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue @PHENOTYPICFEATURE$ (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma.	false
+c40c46cb6472b5d1289bae151c96720e3e00a64b	Progressive @PHENOTYPICFEATURE$ epilepsy due to @DISEASE$ in an adult.	false
+18f0ef0b8b90c11f257368dda8444f12019ff96a	Patients with type 1 @DISEASE$ (GD1) have increased risk of developing myeloma, other hematological cancers, hepatocellular carcinoma, and other solid @PHENOTYPICFEATURE$.	false
+49f29a9b5c50894a03ff1c7f21b55891ab80d20c	A 29-year-old woman with @DISEASE$ developed @PHENOTYPICFEATURE$ of the left parotid gland.	false
+b7974cff79ea6cbba32ffdba457eceaed8d6279d	The present patient was a 136-day-old Japanese boy with @DISEASE$ type 2. Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, @PHENOTYPICFEATURE$, hepatosplenomegaly and thrombocytopenia, but he also had GERD.	false
+ed3f3cde7b47ea6a9496ab448bcca0703c95c2fe	Studies of patients with @DISEASE$ and atypical manifestations, including parkinsonism, @PHENOTYPICFEATURE$ epilepsy, cardiac involvement and collodion skin, seek to define other genetic or environmental factors contributing to the phenotypes.	false
+5bec52d92a9e09f36596d7bfeee85b20eb173285	He continues to be managed for his @DISEASE$ and @PHENOTYPICFEATURE$ by genetics, nephrology and urology.	false
+5cc0b12d3c5ebc55dd83da6a0b34157a2ec84193	We performed a direct DNA sequencing analysis of the complete functional glucocerebrosidase gene in a 22-year-old neuronopathic non-Jewish patient with @DISEASE$ type 3 with @PHENOTYPICFEATURE$ epilepsy and slight mental disturbances and in most members of his family.	false
+1def3c2f36d47d2aaebd35473302c5e0b298d0c6	Among the remaining 19 cases involving defined solid @PHENOTYPICFEATURE$ and 7 other hematologic malignancies, we found no statistical association with @DISEASE$.	false
+d932e9c2691a402b7bdd49e5116387cc192ffa47	The acquired pathology includes @PHENOTYPICFEATURE$, cysts, abscesses, spontaneous rupture of the spleen, splenosis and massive enlargements as in @DISEASE$.	false
+60cc14de2501a132d83847360d82d8aa76273496	This is the first clinical report of @PHENOTYPICFEATURE$ dysfunction in neuronopathic @DISEASE$.	false
+087a3e341c05d49a84e7fc395542f9a343d6b078	@PHENOTYPICFEATURE$, including difficulty in initiating and maintaining sleep (@DISEASE$ and DMS, respectively) and early morning awakening (EMA), significantly increased with increasing levels of T-Anger (P<.05 by test for trend).	false
+d5ad5c67ac57ac31827a685a53e2e66df1e06089	Characteristics in depressive elderly were poor sleep efficiency, @PHENOTYPICFEATURE$ due to difficulty of initiating sleep (@DISEASE$), breathing discomfort, coldness and pain, poor subjective sleep quality and lack of enthusiasm for activities.	false
+6b555c3a647c87664a640a7054ee5db31d9d85e7	Nineteen HIV positive patients were investigated for clinically diagnosed @PHENOTYPICFEATURE$ with Neuropathy Symptoms Score (NSS)3 and Neuropathy @DISEASE$ Score (NDS)5.	false
+57c55090c1948e798218c5624478d0feb9561cda	As compared with other children with @PHENOTYPICFEATURE$ that were not associated with vaccination, the children who had febrile seizures after vaccination were not found to be at higher risk for subsequent seizures or neurodevelopmental @DISEASE$.	false
+61356073f8b11263c021f8f249c216a99b6c4784	As compared with other children with febrile seizures that were not associated with vaccination, the children who had @PHENOTYPICFEATURE$ after vaccination were not found to be at higher risk for subsequent seizures or neurodevelopmental @DISEASE$.	false
+498f6528f75d8d1bee9d526b1642b84a69946f40	We assessed serum uric acid (SUA) levels in patients with type 2 diabetes mellitus (T2DM) with or without @PHENOTYPICFEATURE$ (diagnosed by the Neuropathy @DISEASE$ score [NDS]).	false
+5dcbead26a00132515f586100f86207958841a83	The purpose of this study is to assess the performance characteristics of ankle reflex in detecting diabetic @PHENOTYPICFEATURE$ (DPN) by evaluating the sensitivity, specificity and the predictive ability of the ankle reflex, a component of Neuropathy @DISEASE$ Score (NDS) with reference to Nerve Conduction Studies (NCS).	false
+b6abb8e6df6245f3ccffb85815d6146e28e202d8	The prevalence of at least one type of @PHENOTYPICFEATURE$ was 38.1%; the figures of @DISEASE$, DMS, and EMA were 18.6, 31.3, and 23.9%, respectively.	false
+34f19b4e1f0f63618ca3ab8ce0607a23ac06abfa	@DISEASE$ or desmin-related myopathy (DRM) is a skeletal myopathy characterized by bilateral @PHENOTYPICFEATURE$, but is often accompanied by cardiomyopathy as well.	false
+13bbe40cad889160ebceaf02c8ff50f1380a3555	Variants in the desmin gene (DES) are associated with @DISEASE$; a myofibrillar myopathy mainly characterized by @PHENOTYPICFEATURE$, conduction block, and dilated cardiomyopathy.	false
+fc1bd14601dd0b26824d5e60f4de741c90a6b33d	Although clinical features overlap with findings of the original report (@DISEASE$, cleft palate, maxillary and mandibular hypoplasia, and microtia), microcephaly was present in two of three patients and @PHENOTYPICFEATURE$ was milder in those with head circumference proportional to height.	false
+8069cf620d8ef6fae354e1767382f886e3855565	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; @DISEASE$; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+acbf03dd9f48812cf0e41bda09dcb3d6bc95ceff	We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound @PHENOTYPICFEATURE$, and studied a knock-in mouse model, Ush1c c.216G>A, for @DISEASE$ (USH1C).	false
+449824518de342f6dbef4ff843fe2252b226ea8b	Mutations in the actin bundling and PDZ domain-containing protein harmonin are the causes of @DISEASE$ (USH1C), a syndrome of @PHENOTYPICFEATURE$ and progressive blindness, as well as certain forms of non-syndromic deafness.	false
+9a0e31c03c76916e6ae453d7ecba3640b9b205e7	Mutations in the actin bundling and PDZ domain-containing protein harmonin are the causes of @DISEASE$ (USH1C), a syndrome of congenital deafness and progressive blindness, as well as certain forms of non-syndromic @PHENOTYPICFEATURE$.	false
+f71dec6ad18e5857c727a405c4b1ca69bb05a070	Both were shown to be mutations of the Ush1c gene, the mouse ortholog of the gene responsible for human @DISEASE$ and for the non-syndromic @PHENOTYPICFEATURE$ disorder DFNB18.	false
+c0c4385d9bc282eb0834acf32a13ccdba7d47128	We conclude that mutations of USHIC can cause both @DISEASE$ and nonsyndromic recessive @PHENOTYPICFEATURE$ DFNB18.	false
+7217c0fd691e16eea4c889e9b38be5a9f456c773	We have recently shown that USH1C underlies @DISEASE$ (USH1C), an USH1 subtype characterized by profound @PHENOTYPICFEATURE$, retinitis pigmentosa, and vestibular dysfunction.	false
+a6b5e07e25a8e8d4dd9cfda35d2c84a69ddfa7aa	In addition to occurring in children with @PHENOTYPICFEATURE$, Bazex syndrome, basal cell carcinoma @DISEASE$ syndrome, nevus sebaceus, radiotherapy-treated cancers, solid organ transplants, and xeroderma pigmentosum, childhood onset basal cell carcinoma has also occurred, albeit less commonly, de novo.	false
+23a5e4356f7382233e133daf8f0804a0bc7206b7	Thrombocytopenia @DISEASE$ reached grade 3. Neurotoxicity was considered dose-limiting, since grade 3 @PHENOTYPICFEATURE$ occurred in all three patients treated at the 6th dose level.	false
+9922f2cb53fea961f2875104895ad115e314f120	Desmoplastic hairless @PHENOTYPICFEATURE$ @DISEASE$ (DHHN) is the name Ruiz-Maldonado et al. gave to a new variant of giant congenital melanocytic nevus characterized clinically by a hard ligneous consistency, absence of hair and progressive loss of pigment.	false
+bf594ae805442a0876aca752ab98275fa17c1f54	Thrombocytopenia @DISEASE$ reached grade 3. Neurotoxicity was considered dose-limiting, since grade 3 @PHENOTYPICFEATURE$ occurred in three of five patients treated at the fifth dose level (paclitaxel 210 mg/m2).	false
+e852879404c4b0373f12386aaf6d599cea1c3651	The variables included standard MMPI-2 validity scales (Lie Scale [L], Infrequency Scale [F], K-Correction [K]; @DISEASE$), objective medical data (e.g., body mass index, pulse oximetry), and polysomnographic scores (e.g., @PHENOTYPICFEATURE$/hypopnea index).	false
+2c87ba79cbf82090bb6bc99dab018afe9b81dd98	These include paresis or @PHENOTYPICFEATURE$ of the facial nerve, face profile asymmetry, keloids, salivary fistula, Frey Syndrome (FS), First Bite Syndrome (@DISEASE$), and hypo-anaesthesia of the skin.	false
+029a0d4db39425c308d0a875f22bceb1d33e0b1d	Surgical correction for @DISEASE$ is recommended even in adult patients before aggravation of cardiac failure and @PHENOTYPICFEATURE$.	false
+f94f2e7ece4c8a02c764d2abc7b66b1e6f74eea6	No significant decrease in @DISEASE$ was noted to be associated with size of hyphema, iridodialysis, @PHENOTYPICFEATURE$, or transiently increased intraocular pressure.	false
+84064d59ca007cd1c80b0e6ff654e6db5c84545f	The eyes were classified into four stages; stage 0, without guttae; 1, guttata cornea without @PHENOTYPICFEATURE$; 2, mild Fuchs' corneal dystrophy (FCD); and 3, severe FCD, according to clinical records, and patient age and corneal endothelial cell density (@DISEASE$) were plotted.	false
+ffe47a60430b756734e2c96b1ac488ed379db5c1	The decrease in @DISEASE$ was correlated with postsurgical @PHENOTYPICFEATURE$ (P<0.0001), and there was no evidence that endothelial cell loss is accelerated by ongoing endothelial trauma after implantation.	false
+bfe59427c9b92bb1f99af5e545aa3f4269bcf25a	All corneas were rated for corneal clarity, epithelial defects, stromal @PHENOTYPICFEATURE$, Descemet's membrane folding, endothelial cell density (@DISEASE$), and cell damage by slit-lamp examination and specular microscopy.	false
+3ce920a7eefbc7a1c7dfbb6b283c0e9616d5ae9d	Treatment of Ah-responsive C57BL/10ScSn mice with iron greatly sensitizes them to induction of @DISEASE$ and @PHENOTYPICFEATURE$ formation by the polychlorinated biphenyl mixture Aroclor 1254.	false
+458aa9c141c71a17f5e3af0e45284d39286309f9	Furthermore, mutations in genes encoding proteins expressed both in photoreceptors and other cilia result in systemic diseases, such as Usher syndrome, Bardet-Biedl syndrome (BBS), and @DISEASE$ that involve retinal degeneration along with other disorders consequent to cilia dysfunction such as @PHENOTYPICFEATURE$ and polycystic kidney disease.	false
+972d157bc31698daeb3b9b944a15d429c43828f8	@PHENOTYPICFEATURE$ was more common in patients with @DISEASE$ who underwent multiple continence surgeries.	false
+e0daa7218533887e75162c089ab0776682027b22	Mutations in SDCCAG8(NPHP10) were described recently in patients with @DISEASE$ and @PHENOTYPICFEATURE$ (Senior-Loken syndrome; SLS).	false
+aa4f3021d946708e6f9272e3e9b6e7cc4d3ed085	@DISEASE$ is a heterogenetic autosomal recessive disorder associated with multiple developmental abnormalities, including cystic kidney disease and @PHENOTYPICFEATURE$.	false
+2f000bc8347e802f36401f127557a6a8d2f3010c	Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, @PHENOTYPICFEATURE$, and @DISEASE$ (a cystic kidney disease).	false
+6d434105757703391142d7aa91960aeda1661ef3	He presented with minor dysmorphic features and @PHENOTYPICFEATURE$, mental retardation, and @DISEASE$.	false
+5b490cbd2aad327f2b8cb15542bee04fb1ecade3	Newborn encephalopathy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2ed049db5ebb40e4160e149260a7dfa3e52beb05	Alcohol, @PHENOTYPICFEATURE$, epilepsy, and @DISEASE$.	false
+7ea887e277cfa3dcb9eded68ae9634b722790cd9	Co-occurrence of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f1d490ee15174837ec153b0bb09cffd8f8be27de	There was no family history of @DISEASE$ or intellectual disability.Ryan's physical examination was notable for alternating exotropia, hypertelorism, upslanting palpebral fissures, and @PHENOTYPICFEATURE$.	false
+95867277b5b0439c354c6548567ddaad1b1248f4	There was no family history of @DISEASE$ or intellectual disability.Ryan's physical examination was notable for alternating exotropia, @PHENOTYPICFEATURE$, upslanting palpebral fissures, and obesity.	false
+2c385e0cd922fcc39cb6b293728a8b477813df23	[@DISEASE$-like behavioural disorders and @PHENOTYPICFEATURE$ in children].	false
+6ace5fbc3b7b077decdc81c4e64823b38a436629	CRS cases are no longer typically seen; yet, @DISEASE$ children often share findings of CRS including deafness, @PHENOTYPICFEATURE$, and to a lesser extent visual changes.	false
+97f8fc132acdd6882a79819901dedbe94d72f60e	CRS cases are no longer typically seen; yet, @DISEASE$ children often share findings of CRS including @PHENOTYPICFEATURE$, congenital heart defects, and to a lesser extent visual changes.	false
+7daa3da52907f7b5dbccddf6ac4590dac48d6296	associated with developmental delay, @PHENOTYPICFEATURE$, @DISEASE$ disorder and dysmorphic features.	false
+6f8f8ce9437eb0adf4d1db0c87f5539496742e1a	Early brain @PHENOTYPICFEATURE$ in @DISEASE$ and the perils of population norms.	false
+be63f4e2e178ee04a817bd67cf3ae09a3d53d825	Brain @PHENOTYPICFEATURE$ in early developmental stages of children with @DISEASE$ is well documented.	false
+1fdf6e1c28038216eef6fb74ca6148f9ac7f8da4	After adjusting for all covariates, subjects with @DISEASE$ had @PHENOTYPICFEATURE$ 1.6 times more than subjects without TMD.	false
+42c04bab297b1afb97e5ff82d13cb8abeb297e6e	After adjusting for all covariates, subjects with TMD had @PHENOTYPICFEATURE$ 1.6 times more than subjects without @DISEASE$.	false
+22b062931b86a6140bfe3eed6b9a2fa2c519f62e	Associations between @PHENOTYPICFEATURE$ and CSD or @DISEASE$ were expressed as odds ratios.	false
+a444c76706b42c8c667b7add5381988b26213075	Dysregulated psychophysiologic interactions may affect the development of @PHENOTYPICFEATURE$ in patients with chronic @DISEASE$.	false
+a341c500f452a9c51ee0d7a49f6ea3bb9d53bdc2	Any correlation patterns were shown between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+21dec4eaa5b1f6e8eea43f1fdaf7414ed237db1c	A relationship between @PHENOTYPICFEATURE$ and @DISEASE$ was established in both examinations.	false
+c8566f6b798190708b18de71d3846b53469b8432	There is weak evidence for an association between subjective @PHENOTYPICFEATURE$ and CSD and a bidirectional association between tinnitus and @DISEASE$.	false
+1725b5933a9bf82d6b653026e078bba11682d693	There is weak evidence for an association between subjective tinnitus and CSD and a bidirectional association between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5976649abebcc8c448b3f9e082d9763a8773555d	TMD alone and both dental pain and @DISEASE$ were associated with @PHENOTYPICFEATURE$ (OR?=?1.389 and 95% CI 1.054-1.832	false
+4939d48b464019e571b3ae27d7f97a8e3d5c6de8	@DISEASE$ alone and both dental pain and TMD were associated with @PHENOTYPICFEATURE$ (OR?=?1.389 and 95% CI 1.054-1.832	false
+51411723c201a33c8206df4aafcd6928dfa8b767	The presence of painful @DISEASE$ without SB was significantly associated with @PHENOTYPICFEATURE$ (OR=6.7;	false
+6ee6e09f49db46759cf7e8b59945c3ab80a6ab14	The results showed an association between painful @DISEASE$ and @PHENOTYPICFEATURE$ (OR=7.3;	false
+5393d6e346a6154c76c76720032fdf1e2afef18b	Aural symptoms (otalgia, @PHENOTYPICFEATURE$, vertigo et cetera) have been included under @DISEASE$ symptoms.	false
+a11b8fa0a96667732a52a5d493c0915028a86e4e	@DISEASE$ may lead to various degrees of @PHENOTYPICFEATURE$.	false
+788ef46bb49de291c5b9b73db5f78df163d87c5f	@PHENOTYPICFEATURE$, behavioural disturbances and gastro-intestinal manifestations can mimic @DISEASE$ (CD).	false
+c08f8cb54753ff59a46f4ba4175baa1946126efc	@DISEASE$ should be considered in women presenting with unexplained chronic pelvic pain, dysmenorrhea, and deep @PHENOTYPICFEATURE$.	false
+2931f17540738733a156d531a529b8541859c403	Enterobacterial @PHENOTYPICFEATURE$ was a feature of all diagnostic groups except pancreatic and @DISEASE$.	false
+fa79bff99c86ae6040d9da77b0a996e663cf8bcd	@DISEASE$ as a cause of @PHENOTYPICFEATURE$ in childhood.	false
+afd5daa851e31c18f264a0f98aa273577ea1b4bf	Type 1 diabetes mellitus (T1DM) is associated with various @PHENOTYPICFEATURE$ like @DISEASE$, thyroid disorder, adrenal failure, etc.	false
+f661d8fd28e899172cf0b923eb784bf257eae00a	@DISEASE$ is an intestinal @PHENOTYPICFEATURE$, triggered by ingestion of a gluten-containing diet in genetically susceptible individuals.	false
+b73e294d1265566b5a41ac1aa389098c4accb1ff	@DISEASE$ as a cause of chronic pelvic pain, dysmenorrhea, and deep @PHENOTYPICFEATURE$.	false
+5f4deec52a35ba0327685b70e7e4dac9d6e5d533	@DISEASE$ is a unique @PHENOTYPICFEATURE$, because the environmental precipitant factor is known.	false
+766a03c4243abc33b4f3e67cd81a33b819dd1cd5	@DISEASE$ (CD) usually presents with diarrhea and @PHENOTYPICFEATURE$ in childhood.	false
+4136bb2d22cf42be0b4b8fecd5aff39163d55799	However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset @PHENOTYPICFEATURE$, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian features and macro-orchidism (@DISEASE$ syndrome; MIM3 #300055).	false
+57bb5cba1828d9b9ea6d6942bc06dfe84fff202c	The boy is characterized by intellectual disability, developmental delay, @PHENOTYPICFEATURE$, expressive language delay, facial dysmorphism, obstructive sleep apnea and multiple congenital anomalies, which are mostly consistent with the characteristics of @DISEASE$.	false
+ae1845eb2f2a38c40e2d3941e1d2f74b5d8587c2	The @DISEASE$ patients exhibited @PHENOTYPICFEATURE$, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features.	false
+4b6e3dfb523e92561046c9fa0a49130359840f39	Review of previously reported @DISEASE$ patient indicated that @PHENOTYPICFEATURE$ is a frequent feature of this condition, but its underlying cause needs to be further investigated.	false
+d28238fddfc07ae03a4e8cf0a5d7814aebdfdc64	Prior case reports have identified @PHENOTYPICFEATURE$ in children with @DISEASE$, a neurocutaneous disorder first characterized in 1996.	false
+c70f720b8cd28c5d0825cda57376fcb3cdf276ed	@PHENOTYPICFEATURE$ in young children with @DISEASE$ referred to neurologists include language and gross motor delay, while fine motor delay is less frequent.	false
+84bc27695c36d10010cf49e910961cd0e9b813e8	@DISEASE$ is a spectrum of anomalies, P, @PHENOTYPICFEATURE$ as Dandy-Walker malformation; H, hemangioma; A, arterial lesions of the head and neck (the most commonly detected include dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis); C, cardiac abnormalities as aortic coarctation; E, abnormalities of the eye and S, sternal defect, that may be present in up to 2% of children with facial hemangiomas and 20% of children with segmental facial hemangiomas.	false
+b8bf2c9e881f863981e13b968a726488618a0e7b	Background @DISEASE$ is a rare vascular neurocutaneous disorder characterized by @PHENOTYPICFEATURE$, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies.	false
+a6d6db122c562d33ad03091b152856d0540415a4	Risk of dysphagia and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+bba6deee360d2c8ad4af68b97abfe03882aeb580	A subset of individuals with @DISEASE$ experience dysphagia, @PHENOTYPICFEATURE$, or language delay.	false
+eacf1b5411d38acc75883db959b8037af3a8ea8c	Here we describe the association between @DISEASE$ and abnormalities in oropharyngeal development and coordination manifesting as dysphagia or @PHENOTYPICFEATURE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+71c504b5249437a04fd09910fa7072281f7a6ba7	Besides this search, we carried out a second search for three clinical conditions (i.e., "meningitis", "Legionella Pneumophila @PHENOTYPICFEATURE$", and "@DISEASE$"), which recently received major focus by the Italian media.	false
+c0cafc31667a955604c4cc7fa84b582791575631	The histopathologic findings considered specific for @DISEASE$ virus infection include hepatocellular necrosis, necrosis of the zona glomerulosa of the adrenal cortex, and interstitial @PHENOTYPICFEATURE$, all of which were generally associated with the presence of 1 to 4 mu intracytoplasmic amphophilic inclusion bodies.	false
+7314b282fb269a6e3a46e66002cb2efd6687b7f1	The Google Trends data also failed to reflect the geographical and temporary patterns of disease for meningitis, Legionella Pneumophila @PHENOTYPICFEATURE$ and @DISEASE$.	false
+866a7a3af5ae46511f6036edf7860ee168796f32	Duplication of the @DISEASE$ and IRAK2 genes in a patient with @PHENOTYPICFEATURE$/multiple congenital anomalies, epilepsy and ectomorphic habitus.	false
+3b2680b3e0b164f6990c270f5617bbd6ceeffb74	Brainstem hemangioblastomas in @DISEASE$ typically cause lower cranial nerve dysfunction, long-tract signs, sensory impairment, and @PHENOTYPICFEATURE$.	false
+5954e72f8980b13229228874cef4b4ae88c7994d	A diagnosis of @DISEASE$ carries substantial cancer risk, while the clinical issues in SWS are primarily related to the consequences of the intracranial @PHENOTYPICFEATURE$.	false
+9a7497842fa5efd3328ad51546938ac2fd29f81f	This 35-year-old man with @DISEASE$ disease and multiple prior resections of cerebellar hemangioblastomas presented with progressive bilateral upper extremity weakness, @PHENOTYPICFEATURE$, and dysphagia.	false
+060a871338f835f7e7b6389e38191eae6896601d	clear cell renal cell carcinoma and @DISEASE$, Wilms tumor and aniridia, genitourinary malformation and @PHENOTYPICFEATURE$ (so-called, WAGR syndrome), and angiomyolipoma and tuberous sclerosis).	false
+bcd6c1a6e270fbb28b4abc2ad10ba9d31deac5de	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), @DISEASE$ (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+0323cd6355fbb6ae31c37a85942e9f19699ef52c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, @DISEASE$, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+c6b0ea61839cceb38c1094fb3006f417750d9806	Therefore, in VHL disease, inactivation of the @DISEASE$ wild-type allele appears necessary, but not sufficient, for the formation of tumor that produces symptoms and neurological @PHENOTYPICFEATURE$.	false
+fe30c6dbc095a903cf9bb5e4cc0e4c21cbd19992	Therefore, in @DISEASE$ disease, inactivation of the VHL wild-type allele appears necessary, but not sufficient, for the formation of tumor that produces symptoms and neurological @PHENOTYPICFEATURE$.	false
+dccbef80baa150789df3031a0656a45cef5f4f92	Thus, Chuvash polycythemia is a distinct @DISEASE$ syndrome manifested by thrombosis, @PHENOTYPICFEATURE$, and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes.	false
+a3f1d34520182662b8a4f723de80e0fe464d0f17	This paper will assess the arguments for growth anomalies, @PHENOTYPICFEATURE$, @DISEASE$ and cretinism.	false
+0d4e176e15b9a50c31bb8f8dbcfb4d8017bf91b9	Pathological conditions proposed to explain their documented anatomical features include @PHENOTYPICFEATURE$, myxoedematous endemic hypothyroidism ("cretinism") and @DISEASE$ (primary growth hormone insensitivity).	false
+1447129b6c510c2b2c99f767d12b18f03b5a3715	A rare association of @PHENOTYPICFEATURE$ and adrenal insufficiency in a boy with @DISEASE$.	false
+5ff1f3d789df203d63d479d41f89d59f25d78050	@DISEASE$ (WS) is associated with @PHENOTYPICFEATURE$, special behavioral phenotype, and high rates of psychiatric disorders.	false
+dbe2433365aeb028c6136bd06eb940ae796275cb	@DISEASE$ (WS), a neurodevelopmental disorder, is characterized by pervasive @PHENOTYPICFEATURE$ alongside a relative sparing of auditory perception and cognition.	false
+641006fef9bee8e77e7137c315366248fd06308d	We conclude that the motor and @PHENOTYPICFEATURE$ in @DISEASE$ are caused by a variety of genes and that heterozygous deletion of CYLN2 is one of the major causes responsible for such dysfunctions.	false
+8ec90b048ce3351de6999920c20edcd3b43c8bf2	@DISEASE$ (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global @PHENOTYPICFEATURE$, dysmorphic facial features, and supravalvular aortic stenosis.	false
+8d78b3781aad98c829c4974d808c2550625b485b	Well-known microdeletion or microduplication syndromes including @PHENOTYPICFEATURE$ and diabetes (RCAD) syndrome and @DISEASE$ (WBS) were identified in three cases.	false
+a20bc156144f89b1548425e26872ff486dd52d08	@DISEASE$ (WS) is a genetic condition characterized by atypical brain structure, @PHENOTYPICFEATURE$, and a life-long fascination with faces.	false
+db054045295f40273f0ec65290bf12c933c9c568	The @DISEASE$ individuals exhibit an unusual fractionation of higher cortical functioning, with marked @PHENOTYPICFEATURE$, but selective sparing of syntax.	false
+5a38b9e9040a91fc0a5c63dc0dda2282e7f673cf	@DISEASE$ (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and @PHENOTYPICFEATURE$.	false
+4cd75264a40b3fe41961cc8d6f22e07eecde567f	@DISEASE$ (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, @PHENOTYPICFEATURE$ and developmental delay.	false
+65619cf51adb83864996f01b8e98b7eb4b12e10d	In the course of the illness, the patient developed the @DISEASE$ associated with arterial hypertension and @PHENOTYPICFEATURE$, right-handed central hemiparesis, contractures, partial motor aphasia, and a decrease of the intellect.	false
+3ca79c4c2aea498ff44c28dafd1ddb429da0bfcb	The authors present clinical and roentgenological characteristics of toxoplasmosis revealed in 46 of 128 patients with neuro-endocrine form of @DISEASE$, cerebro-hypophyseal nanism and @PHENOTYPICFEATURE$, examined for toxoplasmosis.	false
+52c17659a95cf4f584f268c0bfcf82416697b08e	Abdominal epilepsy; @DISEASE$, pseudotabes, pupillary anomalies, alterations of reflexes, severe visceral algias, morbid hunger, and juvenile arterial @PHENOTYPICFEATURE$; observation of a familial picture of five individuals.	false
+ec186da0821a746f8cc13ef4697c4bfdf4dc0061	Mutations in the cardiac sodium channel gene SCN5A may result in various @PHENOTYPICFEATURE$ syndromes such as @DISEASE$ (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM).	false
+18d6ed09caa385da956dbd6eec69c92b95e31f92	Etoricoxib was demonstrated to be effective for the renal @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+32ccbef141e436d1b4dc99aafc1116dffdc66ca3	Other symptoms were gastrointestinal bleeding, @DISEASE$, retinal bleeding, subdural hematoma, @PHENOTYPICFEATURE$ and arthralgia.	false
+9d6ef247b33c9864fc6bcfbfbccf5d22d36c3a79	While approximately 50% of patients recovered from this acute phase of the illness without apparent sequelae, the remaining patients developed an intermediate or chronic phase, or both, of illness involving severe myalgia, eosinophilia, peripheral nerve damage, sclerodermiform skin lesions, @DISEASE$, @PHENOTYPICFEATURE$ and joint contractures, among other findings.	false
+f09ada6ee433d804622ebb3ce6cc819acb4c31f7	She had polyarthritis, @PHENOTYPICFEATURE$ fingers with Raynaud's phenomenon, @DISEASE$, interstitial lung disease, possible myositis, and was positive for anti-nuclear antibody, anti-nRNP antibody and rheumatoid factor.	false
+d89e264e82014ee9afec37cbd51be631dab6942c	[Case of remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ complicated with @DISEASE$].	false
+99a7a3ff28e493906bf8beec48480ec1cb1cb3e3	@DISEASE$ is a rare inherited disorder of connective tissue characterized by @PHENOTYPICFEATURE$, congenital joint dislocations of the hips, knees and elbows, and deformities of the hands and feet.	false
+0bbeb8889a11ba730464671a94c1b247596d04b3	Two unrelated children presented with similar clinical features (@PHENOTYPICFEATURE$ and multiple joint dislocations) suggesting the diagnosis of @DISEASE$.	false
+3195db2f346c66f79fe8508e401cc9d3dd25aeb1	@DISEASE$ is characterized by multiple congenital joint dislocations, typical skeletal defects and @PHENOTYPICFEATURE$.	false
+2c2d440095a997172b94163eef9c562583ec5018	@DISEASE$ (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and @PHENOTYPICFEATURE$.	false
+f0a9185b1100944f36d612e7de7aa5739acebf8c	Syndromic features and mild @PHENOTYPICFEATURE$ in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to @DISEASE$ etiology.	false
+6c647ee29fdeae7b4d17a1f637caf4692f4438d0	The @DISEASE$: modeling @PHENOTYPICFEATURE$ in the mouse.	false
+47dae070c6d09e52f0ae57345eb80d6f20750bd8	@DISEASE$ (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and @PHENOTYPICFEATURE$.	false
+4dc0ef6c89c005485b0137a9c0fcab3da73a4441	@DISEASE$ (RTS) is a rare multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome.	false
+849dbcdb902c5b4076d33814d42ab2680a615304	@DISEASE$ (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of @PHENOTYPICFEATURE$.	false
+08df4c420f544a88cc5bcfdb23f8ee048f3311de	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and @PHENOTYPICFEATURE$, unusual facies, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+0ab8c26ea90d874e61a312655c68814bca9e9cf9	Patient 3, born in 1990, has @DISEASE$, right embryo-toxon, bifid uvula, and @PHENOTYPICFEATURE$.	false
+6fbba1e6de2f7c98f2feafb1836b3a10ab81af54	A 25-year-old man with a ventricular septal defect (@DISEASE$) presented with @PHENOTYPICFEATURE$.	false
+783757e417d0150d7a08c919bd29415b57ad2cee	She had @PHENOTYPICFEATURE$, atrial and @DISEASE$, impaired T-cell function, hypoparathyroidism, sensorineural hearing loss, renal abnormalities and developmental delay.	false
+7d285db9a0ad95c497be8a4232dc1a72f674fd1b	A caucasian boy with distinct oriental-like facies, @PHENOTYPICFEATURE$, brachydactyly, congenital @DISEASE$, glaucoma, and speech disorder is reported.	false
+a247c2e31869ddfcad80207b92a1c2eb542b1112	In comparison to the first case reported in the literature, she has an aggravated phenotype characterized by heart defects (restrictive @DISEASE$ and membranous subaortic stenosis), and presented other @PHENOTYPICFEATURE$ and urogenital malformations (ovarian cyst).	false
+4091e54613765c9bbc489e4827e7ee052db71c69	Holt-Oram (HO) is a syndrome characterized by congenital @PHENOTYPICFEATURE$, specifically atrial and @DISEASE$, and skeletal abnormalities of the upper limbs bones.	false
+64725e22500293560372642eb6e54853e6f4e7b3	The pregnancy was terminated, and the autopsy revealed monodactyly of the right upper limb, oligodactyly of the left upper limb and bilateral split foot, as well as atrial and @DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+158632ba2354556709bf4ef8ea54136758bea1a7	We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in a 13 9/12 -year-old Japanese girl with @PHENOTYPICFEATURE$ (-3.9 SD), mild mental retardation, and @DISEASE$ (VSD).	false
+3516faeedc180c848367b74114cf6d75acef18f7	We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in a 13 9/12 -year-old Japanese girl with @PHENOTYPICFEATURE$ (-3.9 SD), mild mental retardation, and ventricular septal defect (@DISEASE$).	false
+12e307279de97b181fd9294ac924c5f392635c2d	In one patient with residual ventricular septal defect (@DISEASE$), intractable @PHENOTYPICFEATURE$ developed 12 years postoperatively.	false
+4c33263c595c0fbe7fe29e3766a5e8fb82fbec97	A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, @DISEASE$ and episodes of @PHENOTYPICFEATURE$.	false
+c4112233a252c4f9e837feaa34986f53b65be7fd	Alstr?m syndrome is a multiorgan pathology characterized by @DISEASE$, hearing loss, childhood truncal obesity, insulin resistance and @PHENOTYPICFEATURE$, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.	false
+65548d4abfbdeb22e73dd2d669220b3aced8b97f	Alstr?m syndrome is a multisystemic disorder characterized by @DISEASE$, hearing loss, obesity, insulin resistance and @PHENOTYPICFEATURE$, type 2 diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction.	false
+cf8e73e975235648c7c510c27125203611b0213c	Alstr?m syndrome is a rare autosomal recessive genetic disorder characterized by @DISEASE$, hearing loss, childhood truncal obesity, insulin resistance and @PHENOTYPICFEATURE$, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.	false
+a54072e12bf3a62a6cb01324adef218b0e883068	Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and visual impairment caused by @DISEASE$.	false
+6840d5b93437e6ad80bcbd46ad80d82d5e531b52	Spondylometaphyseal dysplasia with @DISEASE$ is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, @PHENOTYPICFEATURE$, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy.	false
+cf8e73e975235648c7c510c27125203611b0213c	Alstr?m syndrome is a rare autosomal recessive genetic disorder characterized by @DISEASE$, hearing loss, childhood truncal obesity, insulin resistance and @PHENOTYPICFEATURE$, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.	false
+fc1f7115495d8b9689bd59ae06962ac5d474f812	We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (@DISEASE$): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and @PHENOTYPICFEATURE$ of the right foot respectively.	false
+c05ba41d0123a30dadee4afcce4129ccf57089a9	@DISEASE$ [orofaciodigital (OFD) syndrome type II] is an autosomal recessive condition that presents with short stature, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and @PHENOTYPICFEATURE$.	false
+34497028b665eb43666b758e3a6394e3efb95155	Three cases were previously reported with @PHENOTYPICFEATURE$ familial tumoral calcinosis that were associated with @DISEASE$, an autoinflammatory disorder that is characterized by recurrent episodes of bone pain.	false
+e771bc73b12dfa6009a583f4ed80f81fe49a1868	GALNT3 gene mutation-associated @DISEASE$ and familial @PHENOTYPICFEATURE$ familial tumoral calcinosis.	false
+c4eae4fa773b70924888014ff0a3e3d0893af7af	Neonatal @DISEASE$ is still a severe disease with an important risk to rapidly develop @PHENOTYPICFEATURE$ and epilepsy.	false
+9b66bcd59786e1c502a7733870d0f59cca9df4f7	Here, a 12-year-old boy is presented with diagnosis of @DISEASE$ who had recurrent attacks of hypoglycemia and @PHENOTYPICFEATURE$ from infancy.	false
+938def5a769a07a8143d83b5be43a4f6b25d5e21	We have to pay attention to @DISEASE$ when we see @PHENOTYPICFEATURE$ with normal EEG even in infants.	false
+5a757a0b762ef26821c87fa4c938299ec86dd4dd	Early onset hypoglycemia associated with @PHENOTYPICFEATURE$, and especially a good response to diazoxide treatment, should include this disorder in the differential diagnosis of @DISEASE$.	false
+a25398c2c8e2ee069659b0a6926e34f165b9f0ac	repeated @PHENOTYPICFEATURE$, neuroglycopenic symptoms, noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS), endogenous @DISEASE$, nesidioblastosis.	false
+108465a017266a7291e5a9b40c66c235c0206d27	We report an infant presenting with afebrile @PHENOTYPICFEATURE$ secondary to @DISEASE$ resulting from a novel de novo mutation of the GLUD1 gene.	false
+8c6e9f7e66c7a5b81ae5f5f1a03a32eb91cf362f	Despite the rareness of this case, clinicians should be aware of the possibility of @DISEASE$ in patients with Turner syndrome to prevent further brain damage caused by hypoglycemic episodes and @PHENOTYPICFEATURE$.	false
+aa0ceb1c29d5081aa5442ccd5b19b9f446e1cb7d	These children appear to have a distinct variant of @DISEASE$ with infantile cataracts, unusual facies, skeletal dysplasia, @PHENOTYPICFEATURE$ secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.	false
+05cd94c6a7d18c651d5fd1ed6f7b6f8c11a4adf4	A 12-year-old female with @DISEASE$ (HSAN) type IV presented with @PHENOTYPICFEATURE$ and swelling on her left knee.	false
+cb2f016ab66a99fe345ba3f8bf0e11fb8541a8fd	We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including @PHENOTYPICFEATURE$, bilateral dislocations of the knees and elbows, @DISEASE$, and short stature.	false
+9d8f80899944d47dfe8fbb0a9db80282e615faa4	Features between @DISEASE$ and EEC syndrome (@PHENOTYPICFEATURE$, ectodermal dysplasia and cleft lip/palate) have led to the recent identification of mutations in the TP63 gene, located on 3q27, in this condition.	false
+08a24712bc0463fcccbd1b3f979e59364b55b706	@PHENOTYPICFEATURE$, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (@DISEASE$), ADULT syndrome, and others.	false
+f1b9c602f1d57c0b7ae415d4f12ca77a4c342c35	Cases of @DISEASE$ and AEC show considerable clinical overlap, particularly with regard to @PHENOTYPICFEATURE$ and mid-face hypoplasia, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.	false
+00119fb3cbbc726204696af12784fadd90fdb995	Cases of @DISEASE$ and AEC show considerable clinical overlap, particularly with regard to hypotrichosis and mid-@PHENOTYPICFEATURE$, and the clinical feature of ankyloblepharon in AEC is often subtle, transient and a poor distinguishing clinical sign.	false
+927ceba1548d7d8ea7fbee7252a2db364df4f027	Tyrosinemia type II or Richner-Hanhart Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+33b3dd79361fa522ffbb37332af5d2ef73b84d69	Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: @PHENOTYPICFEATURE$-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (@DISEASE$ syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2].	false
+8e96aa7a17c566d103d433d15f65cd509cbdb00a	Tyrosinemia type II (Richner-Hanhart syndrome, @DISEASE$) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+c50925c0d1fe3a4c86b2fd26894669a493f9fe66	Tyrosinemia type II (Richner-Hanhart syndrome, @DISEASE$) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+3d54645c43db6fd7bc52d40858706622232f3a74	Neonatal @DISEASE$ and unilateral ectopic @PHENOTYPICFEATURE$ as new renal causes of hydrops fetalis: two case reports and review of the literature.	false
+10539dea9dc73ad7e2319032f79fc95738f61902	Although chronic hypokalemia is the main clinical feature of @DISEASE$, @PHENOTYPICFEATURE$ formation in this disease has never been reported.	false
+8628b43c1c15190d094562c3312ae884e1408dd4	Diseases as different as cardiac arrhythmias, epilepsy, myotonia, @PHENOTYPICFEATURE$, familial hyperinsulinism, and @DISEASE$ have all been linked to mutations in genes encoding ion channels.	false
+5283cda25ae30a38e795f94d152f1028634d4380	Although it may be coincidental, these cases suggest that both neonatal @DISEASE$ and unilateral ectopic @PHENOTYPICFEATURE$ may cause NIHF development in neonates by several different mechanisms.	false
+666ef426b5ebc914560b762b485f16bc209b2270	To our best of knowledge, these are the first reports of NIHF associated with neonatal @DISEASE$ and ectopic @PHENOTYPICFEATURE$ in neonates.	false
+f6e370d0ba912f128ee68384acb43293a5f3eeaf	[Special @PHENOTYPICFEATURE$ syndromes accompanied by Sicca's syndrome (Sjogren's syndrome), pseudo @DISEASE$, chronic cholestatic viral hepatitis (pseudo primary biliary cirrhosis), massive gastric hemorrhage and icterus combined].	false
+7446e181cb451e036655fffd6ff871bc6f11767d	A 35-month-old female with @DISEASE$ (NKH) presented to the Emergency department with severe hypoglycemia, @PHENOTYPICFEATURE$, and several episodes of seizures.	false
+8b8ff64e818d119e6289cb9ff578092f2b73ff62	Patients with GLRX5-associated variant @DISEASE$ had normal development with childhood-onset spastic paraplegia, spinal lesion, and @PHENOTYPICFEATURE$.	false
+123c2856fa5b3ec84ee9cee2497c1486a4335b34	Most sources recommend a moderately increased dose guided by therapeutic drug monitoring.A 14 year old boy with @DISEASE$, a rare inborn error of metabolism, characterized by high levels of glycine, epilepsy, spasticity, and cognitive impairment, was admitted to the emergency department with respiratory failure after a few days of @PHENOTYPICFEATURE$ and cough.	false
+1f0d9d55458aaeb18a99755d12282b97b2272d12	@DISEASE$, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic @PHENOTYPICFEATURE$, and other variable clinical features.	false
+281515810f4594548173497f0cbd86c87052d46f	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+10ed6c0513062b9c74aa897e3b69a9e443edb833	Kleefstra syndrome (KS; OMIM #610253), formerly known as the @DISEASE$, is an autosomal dominant cause of intellectual disability (ID) characterized by hypotonia and @PHENOTYPICFEATURE$.(1,2)	false
+60b868a918fe052114bc3921bdb093d3649f0dfa	@DISEASE$ (KS; OMIM #610253), formerly known as the 9q subtelomeric deletion syndrome, is an autosomal dominant cause of intellectual disability (ID) characterized by hypotonia and @PHENOTYPICFEATURE$.(1,2)	false
+37370d885d65814fbf8dfa19adf05451e80395b9	Molecular and clinical study of 18 families with @DISEASE$ type II: evidence for genetic heterogeneity and de novo @PHENOTYPICFEATURE$.	false
+dc3b91fb730b0add3aa0415e2887041bb1594a73	Sanger sequencing confirmed the de novo @PHENOTYPICFEATURE$ p.Ala570Val in one family, and showed co-segregation of p.Val606Phe and p.Ala570Val, with the @DISEASE$-DN phenotype, in two other kindreds.	false
+4ac7cf36b9bac64423cfc969be46d76cf2ce49df	Lung adenocarcinoma (@DISEASE$) is the most prevalent subtype of lung cancer and characterized by considerable morphological and @PHENOTYPICFEATURE$ heterogeneity.	false
+721b91a2888c3fb0f21ae7684bd77dc7fce0dbc6	EEG deterioration and neuroradiological findings, which showed progressive @PHENOTYPICFEATURE$, confirm the neurodegenerative nature of @DISEASE$.	false
+9e074bea1c1dce00163483c99b5017fad42db019	The nevi were also characterized as central @PHENOTYPICFEATURE$ or hyperpigmented, @DISEASE$ peripheral hypopigmented or hyperpigmented, or multifocal hypopigmented or hyperpigmented.	false
+bbf9b38da260043fe18ffd38614af566bd028081	The nevi were also characterized as central hypopigmented or hyperpigmented, @DISEASE$ peripheral hypopigmented or hyperpigmented, or multifocal @PHENOTYPICFEATURE$ or hyperpigmented.	false
+65c94ecff1ba03b55491e21499e121c4bddcfca7	The nevi were also characterized as central hypopigmented or hyperpigmented, @DISEASE$ peripheral @PHENOTYPICFEATURE$ or hyperpigmented, or multifocal hypopigmented or hyperpigmented.	false
+8b032e13def3dd347931c049ebeb76443a504045	A mentally retarded girl with congenital blepharophimosis, ptosis, @PHENOTYPICFEATURE$ and other features consistent with @DISEASE$ is reported.	false
+cc96ea8e232b7d78338f6278be9d91dfee048f23	The development of kidney failure was a devastating complication in these @DISEASE$ patients with chronic active disease, leading to unavoidable deterioration of peripheral veins, progression of @PHENOTYPICFEATURE$, dialysis treatment and secondary cutaneous lesions.	false
+ae48dbcb6449e38c671dca4e2c03b7f48b88b8d5	@DISEASE$ and suspected @PHENOTYPICFEATURE$ in an 18-month-old boy.	false
+24f92d64f58496acb14d267d20ebd56904f5c69e	Oral steroid treatment achieved dramatic @PHENOTYPICFEATURE$ control at the expense of @DISEASE$ and progressive fatty liver disease.	false
+77e043621a58859f562d4fc1c13e3dcc89a549af	A woman with ectopic corticotropin-dependent @DISEASE$, diabetes mellitus, carcinoid tumor, and a history of thyroid cancer had the precipitous onset of @PHENOTYPICFEATURE$ and fever, and hypotonic polyuria and progressive hypernatremia developed.	false
+96386676a90529767a37c2d21301f5bc0f8b465c	To report an unusual case of @DISEASE$ caused by an adrenal pheochromocytoma, manifesting as pseudo-central hypothyroidism and diabetic hyperosmolar @PHENOTYPICFEATURE$.	false
+7f4515c73bca5312fe0c957b9770064c31b995d4	Reversible posterior @PHENOTYPICFEATURE$ syndrome associated with micronodular adrenocortical disease and @DISEASE$.	false
+7e0c3c94c9b9268e0bca4e3d78078577c15dc718	Renal transplantation is associated with a variety of @PHENOTYPICFEATURE$, @DISEASE$, and central pontine myelinosis.	false
+bcb512d82cf7a43820566fb6d0d4630624fdc077	The Langer-Giedion syndrome (@DISEASE$), which is characterized by craniofacial dysmorphism and @PHENOTYPICFEATURE$, is caused by a genetic defect in 8q24.1.	false
+6882a90c7b8685c1d422076b0dd15fd422a90f98	Our patient differs from previously reported @DISEASE$ patients without TRPS1 gene deletion in that she has the typical LGS facial dysmorphism and @PHENOTYPICFEATURE$.	false
+c2b27bb0557d7e5f86236b4cd15d6cc40d8da9d4	Our patient differs from previously reported LGS patients without TRPS1 gene deletion in that she has the typical @DISEASE$ facial dysmorphism and @PHENOTYPICFEATURE$.	false
+e5a8d3b40b3e225825fa2b8cbf2eda2424e60354	Neurologic disorders such as Landau-Kleffner syndrome, electrical status epilepticus during slow-wave sleep, infantile spasms, @DISEASE$, tuberous sclerosis, @PHENOTYPICFEATURE$, and developmental language disorders are useful clinical models in the investigation of this complex relationship.	false
+fcd0ad488818880e0a9762060705200726a2e720	Statistical analyses revealed the following correlations: (1) severity of T2 prolongation in the brain with motor delay (p = 0.03); (2) degree of ventricular enlargement with the age of seizure onset (p = 0.04), and with development and intelligence (p = 0.04); (3) severity of pachygyria with the age of seizure onset (p = 0.01), seizure type (p = 0.03), and an abnormal neurologic examination (p = 0.002); (4) parietal involvement with @PHENOTYPICFEATURE$ (p = 0.05); (5) occipital involvement with age of seizure onset (p = 0.006); (6) age of seizure onset with development and intelligence (p = 0.03) and with an abnormal neurologic examination (p = 0.04); and (7) severity of the pachygyria and thickness of band with development of symptomatic generalized epilepsy (p = 0.002 and p = 0.02, respectively) and @DISEASE$ (p = 0.002 and p = 0.01, respectively).	false
+ffed70b82910ca9a499247215e4314a71d157b14	There was a statistical significance between the presence of a history of seizures in the neonatal period, the age of onset of seizures being less than 2?years of age, @PHENOTYPICFEATURE$, status epilepticus, Lennox-Gastaut syndrome (@DISEASE$), presence of infantile spasm, generalization of the electroencephalography (EEG) findings, the number of tubers in cerebral imaging being more than three and refractory seizures (p?<?0.05).	false
+81e6712b697ff6ee16f6d049e5972849b71723f3	There was a statistical significance between the presence of a history of seizures in the neonatal period, the age of onset of seizures being less than 2?years of age, @PHENOTYPICFEATURE$, status epilepticus, @DISEASE$ (LGS), presence of infantile spasm, generalization of the electroencephalography (EEG) findings, the number of tubers in cerebral imaging being more than three and refractory seizures (p?<?0.05).	false
+f12ae0f2a1924ecaaa7d846a029d3dc64025e7d7	The exclusive involvement of @PHENOTYPICFEATURE$ distinguishes EXT from the clinically more complex Langer-Giedion syndrome (@DISEASE$), which is associated with deletions at chromosome 8q24.	false
+0ce691c6bda25dd5002768f4067cd17408b83c41	Statistically significant relationship was found between presence of a history of seizures in the neonatal period, the age of onset of seizures, @PHENOTYPICFEATURE$, @DISEASE$, presence of infantile spasm, presence of status epilepticus history, history of using more than three antiepileptic drugs, generalization of EEG findings, presence of SEGA in cerebral imaging, number of tubers being more than three and the patient's mental retardation (p?<?0.05).	false
+8dd04d1d57c3c81e08f3d4ccd81e5b854af2a640	@DISEASE$ with @PHENOTYPICFEATURE$ (Cross syndrome).	false
+91038b49575a4799fc1885ed0663e8b81292f21d	@DISEASE$ with @PHENOTYPICFEATURE$ (Cross syndrome): report of a new case.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+93674a7701c0749ed3180a33029cb101a07f3219	@DISEASE$ with @PHENOTYPICFEATURE$ (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign.	false
+34f730b71494ef4701113d347f90eaa2ee27edbe	@PHENOTYPICFEATURE$ lesions associated with @DISEASE$ in asthma.	false
+c6e49c0de92ed1271c3a52c2da6ae40f8f9c6f8d	Patients with @DISEASE$ (AD) are prone to have @PHENOTYPICFEATURE$.	false
+d1168589c2e899b6ecc140d086aa72e181f1e5d2	Antimicrobial peptides, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2a0d317b4ca11f472ca92848900f537b989de741	These infections include Staphylococcus aureus (S. aureus) @PHENOTYPICFEATURE$, eczema herpeticum, eczema vaccinatum, and @DISEASE$ coxsackium.	false
+e13746c4fec9c1304e703455a9c7a6a2445dc397	These infections include Staphylococcus aureus (S. aureus) @PHENOTYPICFEATURE$, eczema herpeticum, @DISEASE$ vaccinatum, and eczema coxsackium.	false
+18d3d4117c463c2b66d2c95b4362ff0798784458	These infections include Staphylococcus aureus (S. aureus) @PHENOTYPICFEATURE$, @DISEASE$ herpeticum, eczema vaccinatum, and eczema coxsackium.	false
+2860e5014f67140331b798f0b049898ab153a3d2	In this work we focused on molecular basis of pigmentation disorders in dermatological diseases that present clinically with hyperpigmentation (lentigo senilis, Riehl melanosis, seborrhoic keratosis, fibroma, caf?-au-lait patches melasma, @DISEASE$) or @PHENOTYPICFEATURE$ (vitiligo, albinism).	false
+211fb6f2c0b52bdd012e1de2ee6f7a5643425327	In this work we focused on molecular basis of pigmentation disorders in dermatological diseases that present clinically with hyperpigmentation (lentigo senilis, Riehl melanosis, seborrhoic keratosis, fibroma, caf?-au-lait patches melasma, @DISEASE$) or hypopigmentation (vitiligo, @PHENOTYPICFEATURE$).	false
+400648e464ff32f8e25fde80f758b42f90d8b66b	The most common conditions seen were @DISEASE$ and @PHENOTYPICFEATURE$.	false
+35df1f21c66bb24ddce0fbaeebacb842a93f9da3	Numerous @PHENOTYPICFEATURE$ patches associated with @DISEASE$.	false
+11b6ade5d2993730b8ec9f82513d2380fc23c635	Widespread @DISEASE$ with @PHENOTYPICFEATURE$ facial plaques.	false
+61009d4be76512203a9593a0972cedfcc75c28cc	Endogenous antimicrobial peptides and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+46d47bebee97afac72cfc695fdb25cf08cecf0c3	This study was conducted to determine if EEG abnormalities in patients with @DISEASE$ predict the later onset of @PHENOTYPICFEATURE$.	false
+7de16edad23832b7454b86617199e196265b881d	@DISEASE$ syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms, persistent seizures, mental retardation, and in some cases, @PHENOTYPICFEATURE$.	false
+e04ccf1eadb0efe2be4657bf6b5712b7bce2c1a6	At the age of 8 years, the girl is symptom-free and visits primary school illustrating remarkable recovery of severe @PHENOTYPICFEATURE$ and symptomatic @DISEASE$.	false
+6fc50a802a0b8e8cbc7bdfd26ecffac1cccbcd82	One group consisted of those with a past history of @DISEASE$ plus autism (N=14); the control group consisted of those with a past history of West syndrome but without @PHENOTYPICFEATURE$ (N=14).	false
+7166be8b0af89eb328e5047e1a6e9d8d36dcdcb7	One group consisted of those with a past history of West syndrome plus autism (N=14); the control group consisted of those with a past history of @DISEASE$ but without @PHENOTYPICFEATURE$ (N=14).	false
+4fe147b8089f5779b2de84a3d7a3cd301774e8b0	One group consisted of those with a past history of @DISEASE$ plus @PHENOTYPICFEATURE$ (N=14); the control group consisted of those with a past history of West syndrome but without autism (N=14).	false
+464caf2c88c3054d3978d6bf1e6b5e6f17898514	One group consisted of those with a past history of West syndrome plus @PHENOTYPICFEATURE$ (N=14); the control group consisted of those with a past history of @DISEASE$ but without autism (N=14).	false
+992312eb3d699b67d0189ad6392a24527fe414b4	In this study, we report a 1.8-year-old boy, who presented with @DISEASE$ in infancy and developed the sequelae of psychomotor delay and @PHENOTYPICFEATURE$.	false
+0360306e67a71e5af7c9fe84f8cfbff952f4a7fe	@PHENOTYPICFEATURE$ may develop in children with @DISEASE$.	false
+a48603ee44819f2e7fb204c1ec6b5e435b8552ea	Infant's engagement and emotion as predictors of @PHENOTYPICFEATURE$ or intellectual disability in @DISEASE$.	false
+28231bc7509d77736ac29c38e9808eee516e28af	The rate of @PHENOTYPICFEATURE$ in @DISEASE$, particularly in children who have tuberous sclerosis with temporal tubers, is high.	false
+455d835c2561524180dee332dde649b8a6a4117d	Most of the reported cases of children with tuberous sclerosis and @PHENOTYPICFEATURE$ had experiences @DISEASE$.	false
+1f9b51cbe46f35b639b79cb046315c87c645e3ea	Patients shared several common major characteristics including moderate to severe intellectual disability, @PHENOTYPICFEATURE$, language impairment, and age related epileptic syndromes such as @DISEASE$ and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep.	false
+0931e37146969832ff863f11ec481894d36f91da	This mutation has not been reported in @DISEASE$ but was demonstrated to link with @PHENOTYPICFEATURE$.	false
+65ca5555075c1f8a10183154c5ff3797b347dc1d	@PHENOTYPICFEATURE$, especially those of information processing speed (@DISEASE$), are common in multiple sclerosis (MS), however, the underlying neurobiological mechanisms remain poorly understood.	false
+1f65ce94dde4a3411d4b053b189fa86f40d5279b	To investigate whether the tonic-clonic seizure (TCS) induced by intermittent photic stimulation (@DISEASE$)was @PHENOTYPICFEATURE$ (GTCS)or partial secondarily tonic-clonic seizure (PGTCS),and to analyze the relationship between them.	false
+1c4c61926dcb058d63226a630c6d98f0d5a4599e	Similarly to what is observed in SPMS, patients with primary progressive MS (PPMS) present with a wide range of @PHENOTYPICFEATURE$ in @DISEASE$, attention, working memory, executive functions, and verbal episodic memory with more tests and domains impaired than RRMS patients.	false
+3a342257befd5d1c6c9ce3d468779a1dcd5e3e2e	In a photosensitive patient intermittent photic stimulation (@DISEASE$) accidentally provoked a @PHENOTYPICFEATURE$ during simultaneous recordings of electroencephalography (EEG) and functional magnetic resonance imaging (fMRI).	false
+a1501c8d485e15b52267d927219f85cc9da3d1ea	Ventriculomegaly and @PHENOTYPICFEATURE$ in a neonate with interstitial 11q 24 deletion in @DISEASE$ region.	false
+64ecce5f1776de741320f3f629a68b8c6085acd5	We demonstrate that gene-targeted deletion of Ets-1 in mice results in some of the most common congenital kidney defects occurring in @DISEASE$, including: duplicated kidney, hypoplastic kidney, and @PHENOTYPICFEATURE$ renal pelvis and calyces.	false
+642efb971750846c7fcc4e04eddaa135b6ef3910	Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the @DISEASE$ kidney "critical region," causes @PHENOTYPICFEATURE$ development.	false
+ed39340add287da16f31e78fcf7ad16529010a30	Velopharyngeal insufficiency, submucous @PHENOTYPICFEATURE$ and a phonological disorder as the associated clinical features which led to the diagnosis of @DISEASE$.	false
+269d06e2217da521cc75435a9bbe710889148a5c	The reduced ability of abnormally glycosylated ?-DG to bind laminin is associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7474cb580480a8b9eeff007f41238a8c7cfacf93	Duchenne muscular dystrophy (DMD) is the most common childhood @DISEASE$ that anesthesiologists can encounter in the operation room, and patients with DMD are susceptible to complications such as rhabdomyolysis, @PHENOTYPICFEATURE$ cardiac arrest, and hyperthermia during the perioperative period.	false
+696deaf63221676d71edb13c6eafe6264cc6401a	[Two siblings of myotonic @DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+162ac79f22162e46f15803ab7973419e885e47ca	The prevalence (95% confidence interval [CI]) of painful musculoskeletal conditions was determined according to a diagnosis of arthritis, osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, @DISEASE$, and neck or @PHENOTYPICFEATURE$.	false
+3c162cbdc9a14ce55cd39318e6bc91908401d04a	A 19-year-old male presenting with acute @PHENOTYPICFEATURE$ and severe biventricular heart failure was diagnosed as having Becker's @DISEASE$.	false
+7839ef91bb6132a2ca63e6500b6fcca55caa7c57	The group of neuromuscular diseases includes @DISEASE$, spinal muscular atrophy, amyotrophic lateral sclerosis, @PHENOTYPICFEATURE$ of the phrenic nerve, and injuries to the spinal cord.	false
+6dea5efaccfb446e700518d84262fd2d4c6f885b	The use of succinylcholine should be avoided in @DISEASE$, motor neuron diseases, and intrinsic muscle disease due to a risk of malignant hyperthermia, @PHENOTYPICFEATURE$, rhabdomyolysis, and cardiac arrest.	false
+e7fbf62edb27755658ca1df8113796e5c59ca3af	Homozygous cardiac myosin binding @DISEASE$ (Mybpc(t/t)) mice develop dramatic cardiac @PHENOTYPICFEATURE$ shortly after birth; heart size increases almost twofold.	false
+35a836058beec9fcd4dcc9cd258f1e33aaaf5c77	Skin necrosis and @DISEASE$ associated with vitamin K depletion in a patient with @PHENOTYPICFEATURE$.	false
+3389c4efbcb3302cfd18cddcd408cc09955b250f	Type 1 @DISEASE$ with @PHENOTYPICFEATURE$: a case report.	false
+c8c46dbc24dd248e732c0641cfaeb3e4fd733b0a	To our knowledge, @PHENOTYPICFEATURE$ in type 1 @DISEASE$ has never been reported in the literature.	false
+37ff7177426f0e51e32c9f7904cebd3f1f8e4d24	Prenatal factors of WS included tuberous sclerosis (23), chromosome abnormalities (10), cerebral dysgenesis (10), porencephaly (7), @PHENOTYPICFEATURE$ (5), @DISEASE$ (3), Aicardi syndrome associated with chromosome abnormality (1), and other causes (18).	false
+513bf2d7a0621013b20afdc143183b88b8bb5b8a	Prenatal factors of WS included tuberous sclerosis (23), chromosome abnormalities (10), cerebral dysgenesis (10), porencephaly (7), @PHENOTYPICFEATURE$ (5), Aicardi syndrome (3), @DISEASE$ associated with chromosome abnormality (1), and other causes (18).	false
+cc92883ac570a1acd3a18070ddd5eec0116d3f08	We report an @DISEASE$ patient who had three separate choroid plexus papillomas and associated @PHENOTYPICFEATURE$.	false
+998509c8c2105d3ef19c4f311a001594906d1a98	We report an infant diagnosed with @DISEASE$ in the newborn period based on brain MRI and ophthalmological findings after she was referred for evaluation of @PHENOTYPICFEATURE$ seen on fetal ultrasound.	false
+1967a7f6defe194d0fb3ab5057d58bc2d93a6c18	@DISEASE$ mimicking intrauterine @PHENOTYPICFEATURE$.	false
+e40ce223c3a09318eeeddf33ec2cfafafd7e11d6	Acute symptomatic seizures (@DISEASE$) are the @PHENOTYPICFEATURE$ of different etiology that occur in close temporary relationship to acute damage of the central nervous system arising simultaneously due to metabolic, toxic, infectious and inflammatory factors and structural brain damage.	false
+86937179c936dad303e8df811c8d446a586cb16b	Treatment of @DISEASE$ includes two aspects: reduction in ictal activity (@PHENOTYPICFEATURE$) and prevention of future development of seizures through the elimination or correction of physiological trigger of the attacks and the decision to conduct a long-term antiepileptic drug therapy if the risk of seizures is saved.	false
+d76346cd6e35fb838825b918e5b5723d32231ee8	Treatment of @DISEASE$ includes two aspects: reduction in ictal activity (seizures) and prevention of future development of @PHENOTYPICFEATURE$ through the elimination or correction of physiological trigger of the attacks and the decision to conduct a long-term antiepileptic drug therapy if the risk of seizures is saved.	false
+1f97ddaf2c7ae0cac02d107de4f9549ecdb969d9	Treatment of @DISEASE$ includes two aspects: reduction in ictal activity (seizures) and prevention of future development of seizures through the elimination or correction of physiological trigger of the attacks and the decision to conduct a long-term antiepileptic drug therapy if the risk of @PHENOTYPICFEATURE$ is saved.	false
+e4e5bf749819fbc3cfca44086ec658e49b4bf4af	For many, first @DISEASE$ was associated with status epilepticus (29.5%), multiple-onset (>1 @PHENOTYPICFEATURE$ within 24 h on day of presentation) (35.2%), and multiple etiologies (22.9%), with a mortality of 30% at 2 years (Kaplan-Meier method).	false
+e5f3186343c99fb7af54b196e177be27903d30ed	Because seizure recurrences may occur in the setting of a persisting or reemerging acute symptomatic cause or in the setting of an unprovoked @PHENOTYPICFEATURE$, we documented the prognosis of @DISEASE$ in terms of acute symptomatic seizure (AS) or unprovoked seizure (US) recurrence.	false
+763f93ef07869d9a43f67a6a9239b507663d274e	Because seizure recurrences may occur in the setting of a persisting or reemerging acute symptomatic cause or in the setting of an unprovoked seizure, we documented the prognosis of @DISEASE$ in terms of acute symptomatic seizure (AS) or unprovoked @PHENOTYPICFEATURE$ (US) recurrence.	false
+2de559c1b9b59ae97127da732232808924366034	Because @PHENOTYPICFEATURE$ recurrences may occur in the setting of a persisting or reemerging acute symptomatic cause or in the setting of an unprovoked seizure, we documented the prognosis of @DISEASE$ in terms of acute symptomatic seizure (AS) or unprovoked seizure (US) recurrence.	false
+6a4cf3561103ace1bf665df8d79d33411fea6622	Differences in asymmetry of audiogenic @PHENOTYPICFEATURE$ susceptible rats (@DISEASE$) as compared with resistant rats (ASR) were analysed in the present study.	false
+898db6a06eae3eb4826e74c95ae3283a8002c773	@PHENOTYPICFEATURE$ are classified as acute symptomatic seizures (@DISEASE$; first 14 days) and post-CVST epilepsy (PCE; after 14 days).	false
+26c23a39bd13cda0891ef2a704ecb8afca74c345	After first-ever ischaemic stroke, to assess the risk and baseline factors associated with acute symptomatic seizure (@DISEASE$) (occurring within 7 days) and late post-stroke @PHENOTYPICFEATURE$ (LPS) (>7 days).	false
+f4a52a364069a224ae92b16e20e13a7795e8243c	We report on a girl presenting with an @DISEASE$ like phenotype, a @PHENOTYPICFEATURE$, and mental retardation.	false
+83e5775b6facb52cf3f79b0c3d8ddc063a1d7c14	@DISEASE$ @PHENOTYPICFEATURE$ volume (cm(3)) on post-operative MRI was 0.97 for Gelfoam and 1.11 for (p = 0.49) while average histology scores were 2.5 for Gelfoam versus 3.3 for chitosan (p = 0.32).	false
+7448d9d199327c2aa56e084357f7e58d62fe8831	Compared to the control group receiving saline, the @DISEASE$ group exhibited a significant amelioration of cortical @PHENOTYPICFEATURE$, whereas no effect of AVS on the cortical blood flow was observed.	false
+b3dcb05c650db9129e028fa9d465da3763afd01e	The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the @DISEASE$: @PHENOTYPICFEATURE$, microcephaly, mental retardation, and a distinct hysmorphic pattern.	false
+eb93d415f85c25004f8e7486cd00ec3a9e5b931e	@DISEASE$ (or congenital ectodermal dysplasia of the face) is an inherited condition characterized by congenital scarlike lesions on the temples and a wide spectrum of associated @PHENOTYPICFEATURE$.	false
+296680c258bb22c8d0656ba98ee0fcdd5c4738d1	@DISEASE$ is characterized by congenital scar-like depressions on both temples and a wide spectrum of associated @PHENOTYPICFEATURE$.	false
+f86a648aecda7189f70243515bd96805ae4ebe91	In @DISEASE$ one subtype characterised by @PHENOTYPICFEATURE$ and AV conduction disturbances is recognised.	false
+2a6645150c26e8d20e042085f801a78216da4414	@DISEASE$ (FPAH) is a relatively rare but fatal disorder characterized by elevated arterial pressure caused by abnormal proliferation of endothelial cells of the arteries, which eventually leads to @PHENOTYPICFEATURE$ and death.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+17098aeae392b340e67cc5d04fdf94f5a10d1c00	Screening of cases of @PHENOTYPICFEATURE$ for aminoacid disorders revealed four to be the commonest--hyperglycinemia, homocystinuria, @DISEASE$, and maple syrup urine disease.	false
+dc3964054d342cf83383e55e7164cda569888c86	The major transplant-related toxicities registered were: veno-occlusive disease (VOD), acute graft-versus-host disease (@DISEASE$), infectious episodes, @PHENOTYPICFEATURE$ and mucositis.	false
+08bd23254705e23f500e7df95fd0c97a65e5ebe8	@DISEASE$ is tightly linked with the graft-versus-@PHENOTYPICFEATURE$ (GVT) effect.	false
+b0d0307a6617811ff9aedfcb25278173655013fc	HVGD has a low tumor induction potential; @DISEASE$ has a high @PHENOTYPICFEATURE$ induction potential.	false
+c1cc3da2b5453765c86fa9ff008bdfed2a20d601	HVGD has a low @PHENOTYPICFEATURE$ induction potential; @DISEASE$ has a high tumor induction potential.	false
+7d28d2e934fbe8e0a9ca133a22cbadd8cf2d2bb3	We examined chimerism, graft-versus-host disease (@DISEASE$), and @PHENOTYPICFEATURE$ survival.	false
+465854f1165c822f798d979c7c776f5370803bf8	The sclerodermatous form of cutaneous @DISEASE$ is associated with substantial long-term morbidity, including @PHENOTYPICFEATURE$, myalgias, and mobility restriction.	false
+544253ea4baf77f8e7d7d473603b65e044c5a8b4	Adoptive transfer of allogeneic @PHENOTYPICFEATURE$-specific T cells often results in severe graft-versus-host disease (@DISEASE$).	false
+700e87446190dfe9e3be8f06644184f002b5ae1a	Adoptive transfer of allogeneic @PHENOTYPICFEATURE$-specific T cells often results in severe @DISEASE$ (GVHD).	false
+6473d299a60da0cef2dcbb10e5e2723dae50fe6b	Tumor regression associated with @DISEASE$ is consistent with graft-versus-@PHENOTYPICFEATURE$ effect.	false
+2fe6586f42bd6715af067fbd2df423595708817e	@PHENOTYPICFEATURE$ neuropathy in chronic graft-versus-host disease (@DISEASE$)	false
+745be03e1f16ec5df862e09d132108bfc09fa13f	One heavily pretreated patient developed @DISEASE$ grade III and died from progressive @PHENOTYPICFEATURE$ (resulting from microangiopathic hemolytic anemia) and disseminated aspergillosis.	false
+851af3addfc4eced762eed47581864fa819fb86f	@DISEASE$ and @PHENOTYPICFEATURE$ relapse are fundamental problems in allogeneic HSCT.	false
+1646c591847a33296e5e3ffcfd842c7cb3d53761	Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with @PHENOTYPICFEATURE$ is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with @DISEASE$ is linked to mutations of CASR.	false
+4fddd14397d8d8382be4e2114148038de0246f0b	Thus, our results have identified a mouse model for an activating CaSR mutation, and the development of ectopic calcification and @PHENOTYPICFEATURE$ formation, which tended to be milder in the heterozygote Nuf mice, indicates that an evaluation for such abnormalities in @DISEASE$ patients who have activating CaSR mutations is required.	false
+9c2dc0ae30bb4116fbf249873d87f5b3ab2a117c	A 53-year-old man had bilateral @PHENOTYPICFEATURE$ secondary to @DISEASE$ carcinomatosis from pulmonary adenocarcinoma.	false
+43bc01a0d9004a344f9358c8a8a9b2451b6348ca	Early @PHENOTYPICFEATURE$ and coma during intrathecal chemotherapy for @DISEASE$ carcinomatosis.	false
+0b8fbde1eea2a0e62beed920e57e65cc1877d426	She suddenly developed headaches, vomiting, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f39322746464349119e0d8388ac48ff29d09c814	[A patient with @DISEASE$-IIA syndrome due to de novo @PHENOTYPICFEATURE$ and papillary thyroid carcinoma; the role of 99m Tc-depreotide in diagnosing metastases and brief review of the literature].	false
+3d698445af2de3de82130d7c9e65dd0bb3a7708c	@PHENOTYPICFEATURE$ and @DISEASE$ carcinomatosis.	false
+08df69994009718358e7c0d44546ff60e270c4cd	Headache with vomiting, @PHENOTYPICFEATURE$ and @DISEASE$ signs suggests meningitis.	false
+6e9ebea5bf505bb8239083e0feca9d0a97596a63	Clinical presentation in each case included generalized malaise with @PHENOTYPICFEATURE$, signs of @DISEASE$ inflammation and focal neurological signs at the spinal level.	false
+dfa4985e50e9e95efa1d17b662d8fb5a1e8b4987	The three cases were preceded by an unspecific prodrome of headache, @PHENOTYPICFEATURE$ and fever in absence of a @DISEASE$.	false
+66f64c18a463b4e5c1283b29f6e8486e8983eb36	Acute bilateral @PHENOTYPICFEATURE$ in @DISEASE$ carcinomatosis.	false
+bb0a519ffa8b702b86736ac7f87e76c776c78095	[Sixty-six-year old man with @PHENOTYPICFEATURE$, headache and @DISEASE$].	false
+1069973df04bfd5b07e233aae8da1acc976134dc	The clinical picture of our cases resembles that of the Turkish patients and clearly differs from that of @DISEASE$, which is marked by a prolonged course without myoclonus and @PHENOTYPICFEATURE$.	false
+68de357738285b05f5ae56e1ed755c6055d4b3a2	The link between neuroblastoma and MEN-@DISEASE$ is discussed because both diseases belong to the group of neural crest @PHENOTYPICFEATURE$.	false
+9235e16fcd7a94b5fb414e4a4f4527c4d9e3c1be	In the MEN @DISEASE$, which is the most common of the three types of MEN, three endocrine systems are affected simultaneously or subsequently by the development of @PHENOTYPICFEATURE$ manifested by medullary thyroid gland carcinoma, pheochromocytoma (often bilateral) and hyperparathyroidism.	false
+a9ade324d67ee7f88f00ddb96c08f9efb61aa4b4	A second patient with a MEN-@DISEASE$ and a two-sided pheochromocytoma exhibited a loss of heterozygosity for D2S123 in the right @PHENOTYPICFEATURE$ only and a retention of heterozygosity for all markers in the left tumor.	false
+a4f8fa5a9e9dbf4d67707debf0b2cb7d5f7899e5	A second patient with a MEN-@DISEASE$ and a two-sided pheochromocytoma exhibited a loss of heterozygosity for D2S123 in the right tumor only and a retention of heterozygosity for all markers in the left @PHENOTYPICFEATURE$.	false
+c31ad4d19c3ab4034b3ca93f6d7d3de084465b90	We conclude that the majority of the MCT patients in this family with the MEN-@DISEASE$ have no or limited ploidy aberrations in their @PHENOTYPICFEATURE$, which correlates well with the favourable prognosis of familial MCT.	false
+5b04359350c01c905f9214441bbe5c38815d4433	Genotype-phenotype correlation of this new genetic alteration is unknown, but this rare mutation is probably associated with a low risk for MTC (usually the first @PHENOTYPICFEATURE$ diagnosed in MEN @DISEASE$) and with the development of Pheo before the onset of MTC.	false
+7297e3e34efa18f4e0d06b526ecc69fd386078bc	Less frequent findings included @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2013100e39e36420d94327faacd6b4153b1d4775	A founder mutation in RIC1 (KIAA1432) was identified in patients with @PHENOTYPICFEATURE$, brain atrophy, microcephaly with or without @DISEASE$.	false
+24e06a31259fd0184b16deb691bb680f58474683	A founder mutation in RIC1 (KIAA1432) was identified in patients with cataract, @PHENOTYPICFEATURE$, microcephaly with or without @DISEASE$.	false
+9921d1faa98cc5a6b781754b4c2b1e880b9febbf	All patients had coarse face, cloudy corneae, @DISEASE$ or high-arched palate, @PHENOTYPICFEATURE$ and brachytelephalangy.	false
+fae1579ca6ef337165e60c3e7485529d1fabcc7f	Clinical presentation is variable and includes anophthalmia/@PHENOTYPICFEATURE$, @DISEASE$, and other facial deformities.	false
+c68bf50ac534ef5cce578f9671632c50cd066537	Clinical presentation is variable and includes @PHENOTYPICFEATURE$/microphthalmia, @DISEASE$, and other facial deformities.	false
+e12086fa9e988fab355d4afe2d11a473f1d748b5	Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad @DISEASE$, @PHENOTYPICFEATURE$/anophthalmia and postaxial polydactyly.	false
+0f1b333caa3b48e4bf780424fcb77c3054848d1e	Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad @DISEASE$, microphthalmia/@PHENOTYPICFEATURE$ and postaxial polydactyly.	false
+369f7bcbd6f8e3381d99567f731ec19d4a2745b3	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/@PHENOTYPICFEATURE$, facial clefts, @DISEASE$, ear and nasal deformities.	false
+87f3b524fee47452bfbed2266298f0e33df188b8	Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including @PHENOTYPICFEATURE$/microphthalmia, facial clefts, @DISEASE$, ear and nasal deformities.	false
+f0613ef78d5a50aa827a2490d656d1e1c4719249	Michels syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$, blepharophimosis, epicanthus inversus, and craniosynostosis.	false
+9e41db0fedc91b855e51f9f3eab9e9b97879ad4a	CMs most frequently found were: spina bifida, limb reduction defects, @DISEASE$, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ @PHENOTYPICFEATURE$ and omphalocele.	false
+ef2eda08e9d3098356a413cae678212a037aa5c4	CMs most frequently found were: spina bifida, limb reduction defects, @DISEASE$, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, @PHENOTYPICFEATURE$/ microphthalmia and omphalocele.	false
+139955edccd7ec5feea40223bfb84f73df5bb3b1	About half of the cases had @DISEASE$, anophthalmia/@PHENOTYPICFEATURE$, or a cardiac defect.	false
+ed0a25572baa01a1de74dadf04fd36f4e5be921a	About half of the cases had @DISEASE$, @PHENOTYPICFEATURE$/microphthalmia, or a cardiac defect.	false
+f1b2d4a323def79544a3c90aae7e3827d24199a3	Dominant coloboma-@PHENOTYPICFEATURE$ syndrome associated with sensorineural hearing loss, hematuria, and @DISEASE$.	false
+bee1b17d974d07c4b393d6a6fa22edab5e8325a6	Dominant coloboma-microphthalmos syndrome associated with @PHENOTYPICFEATURE$, hematuria, and @DISEASE$.	false
+3cd0755ebaa3f7b65e5feb18762da78c251c3c28	@DISEASE$ (CDG-I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and @PHENOTYPICFEATURE$.	false
+3b452604d367b66e47beb60343949b90ef3b2ea3	At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, @DISEASE$, hemihypertrophy, or one of the other @PHENOTYPICFEATURE$ syndromes.	false
+7ce01c4f16a764ee3f75856dfb04ae7042b40de0	@DISEASE$ is a complex disorder characterized by abnormal @PHENOTYPICFEATURE$ sexual differentiation with predisposition to developing gonadal neoplasms, and nephroblastoma.	false
+3b452604d367b66e47beb60343949b90ef3b2ea3	At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, @DISEASE$, hemihypertrophy, or one of the other @PHENOTYPICFEATURE$ syndromes.	false
+31923366c57466e94118416edf45ec4820f7274b	@PHENOTYPICFEATURE$ and CT @DISEASE$ abnormalities disappeared after the administration of tetracosactide.	false
+89e99e73e17f3cf9a904fcdd519d293835fdf8bd	Temporal bone HRCT @DISEASE$ and inner ear MRI showed bilateral @PHENOTYPICFEATURE$ with Mondini malformation in II-2 and II-3.	false
+6938361191942d194d6ebadc47e30ae2f655a73a	Patients with @DISEASE$ typically present with @PHENOTYPICFEATURE$ and lymphadenopathy, associated with interstitial lung disease without opportunistic infection.	false
+227912ef3babc95c9169ecf571e3239e60c217b8	Thrombocytopenia, anasarca, @PHENOTYPICFEATURE$, renal insufficiency, and organomegaly constitute TAFRO syndrome, a variant of @DISEASE$.	false
+21d5f225e6bf7965b82f865eeb08d7393574bed7	@DISEASE$ is a lesion of lymphoid tissue, which may be accompanied by systemic manifestations like @PHENOTYPICFEATURE$, anaemia and hyperglobulinaemia.	false
+1390da853c90b291bd39c5c33b0038786464817c	@DISEASE$ in a child with @PHENOTYPICFEATURE$.	false
+c72550483e0861f21acfc4862189ed7fd3c92bf8	Clinical benefit response (CBR; composite of hemoglobin, fatigue, anorexia, @PHENOTYPICFEATURE$/night sweats, weight, largest lymph node size) was also evaluated in @DISEASE$.	false
+be796b4ce8f46d44daf8918446d2438d9c29fe1f	Heterozygous loss-of-function coding-sequence mutations of the transcription factor SOX9 cause @DISEASE$, a rare skeletal dysplasia with congenital bowing of long bones (campomelia), hypoplastic scapulae, a missing pair of ribs, pelvic, and vertebral malformations, clubbed feet, Pierre Robin sequence (PRS), @PHENOTYPICFEATURE$, and disorders of sex development.	false
+2f2ecae5637ba92af833a5c7c1005376c380bf89	(1) To investigate the impact of perinatal common mental disorders (@DISEASE$) in Ethiopia on the risk of key illnesses of early infancy: diarrhoea, @PHENOTYPICFEATURE$ and acute respiratory illnesses (ARI) and (2) to explore the potential mediating role of maternal health behaviours.	false
+27efbb7d9a2749785c3a1be4573931facbf79e96	The first group included 36 patients who had fluctuating hearing loss without @PHENOTYPICFEATURE$, as candidates for cochlear Meniere's disease (@DISEASE$).	false
+043749b4c21663477c66161733187d57ab07a4fa	The findings have been analysed in order to identify symptoms of @DISEASE$ related to tinnitus, and it was concluded that awareness of diurnal bruxism and feeling of jaw tenderness/fatigue may be related to fluctuating tinnitus, @PHENOTYPICFEATURE$ and hyperacusis.	false
+a42d789cbca273dc76e23e513b097bc9c023d3c0	Logistic regression was used to compare prevalence of any @DISEASE$ disorders (diabetes, hypertension, @PHENOTYPICFEATURE$ or coronary artery disease) across groups.	false
+f2070313110549b3c2030db3fed615317f262388	Indications for @DISEASE$ in lower rectal cancer depend on @PHENOTYPICFEATURE$ location,differentiation degree,and infiltrated circumference of intestine,lymph node metastasis.	false
+1ed21acf4b33827d75d11d726ac9d68b2465e1cc	These @DISEASE$ patients were not any different from the other three patients with respect to age, age of onset of epilepsy, seizure types, and @PHENOTYPICFEATURE$ frequency.	false
+e83a9e2e8a8ba7d7ba80f31068f1834b3ec00466	These @DISEASE$ patients were not any different from the other three patients with respect to age, age of onset of epilepsy, @PHENOTYPICFEATURE$ types, and seizure frequency.	false
+535586791e87fa993192f91ad5e08aa5aa7038ae	@PHENOTYPICFEATURE$ and @DISEASE$ narrowed the patient's available means to control over life.	false
+54eaf8718b9db5f1cf2a8a506bba4b53c74407af	Osteochondritis dissecans (@DISEASE$) of the elbow is an @PHENOTYPICFEATURE$ of the articular cartilage and underlying subchondral bone that occurs in the capitellum.	false
+b9c16fb2af8367641bc65eb3ccf56ec7b40e04f2	A case of @DISEASE$ who improved remarkably following drug-induced @PHENOTYPICFEATURE$ is described, implicating a role for convulsion as an alternative therapeutic modality in OCD.	false
+22d7575da3df62e48194d4b8d2135856eaf45a9d	A case of OCD who improved remarkably following drug-induced @PHENOTYPICFEATURE$ is described, implicating a role for convulsion as an alternative therapeutic modality in @DISEASE$.	false
+158b288fcc1b952190a09837cb946d8696f7802f	Severe @DISEASE$ is associated with significant @PHENOTYPICFEATURE$, poor QoL and high family burden, often comparable to schizophrenia.	false
+36366ce16164ad41832db5f8711ecabaee4fe2c4	The @DISEASE$ patients' QOL and @PHENOTYPICFEATURE$ scores and their caregivers' burden and accommodation scores correlated significantly with several sociodemographic, clinical and psychological variables.	false
+8051213c0dbe3123baa9f0c53d3e3e4a1b9f96cb	At both times, the patient remained free of @PHENOTYPICFEATURE$ and reported a progressive reduction in @DISEASE$ symptomatology.	false
+c8d10b8085990228cdcaa0fe85dea287f7272443	Depression, psychotic disorders, and @DISEASE$ are associated with reduced @PHENOTYPICFEATURE$ threshold.	false
+786ab69fb0adcf9056a9510f0847a7469c25d78b	Obsessive-compulsive disorder (@DISEASE$) is a chronic and @PHENOTYPICFEATURE$ mental health problem.	false
+aa6ea52ac32b3bd9d09d80803243e25aaad0d30e	Obsessive-compulsive disorder (@DISEASE$) is a chronic and @PHENOTYPICFEATURE$ mental disorder encounter in neurologic practice.	false
+dde55e12cceb34a36bfc698894d070cb70e1a5a2	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial @PHENOTYPICFEATURE$ periodic paralysis, congenital myotonia, malignant hyperthermia, epilepsy, Gitelman syndrome and @DISEASE$.	false
+ec19483b6f25345a6a8687c2cb5200547b61a849	@DISEASE$ (LEMS) is a rare @PHENOTYPICFEATURE$ affecting neuromuscular junctions.	false
+f909128d55b5524da6a20ddb6e1a7495a39d5be0	@DISEASE$, a presynaptic neuromuscular junction @PHENOTYPICFEATURE$, rarely occurs in children.	false
+73e16d5b1c9a419fb53ec1a078b7759cca819ac1	This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, @PHENOTYPICFEATURE$ syndromes, interferonopathies, and @DISEASE$, and how this has translated into novel targeted therapies and improved patient care.	false
+c469568722e930b2ae75f36fe0cd21262757aa93	We report a girl who showed pre- and postnatal @PHENOTYPICFEATURE$ who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for Gorlin syndrome (@DISEASE$), by array-comparative genomic hybridization analysis.	false
+b27dc18eaee25e23b626e50c476b2a49d0b1d895	We report a girl who showed pre- and postnatal @PHENOTYPICFEATURE$ who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for @DISEASE$ (nevoid basal cell carcinoma syndrome), by array-comparative genomic hybridization analysis.	false
+912e173dbceb4ce609978b7bdc9bb5e787ce7997	Studies on the localization of the 14-3-3 proteins in different types of inclusion bodies in the brain including neurofibrillary tangle in Alzheimer's disease, pick bodies in Pick's disease, Lewy body-like hyaline inclusions in @DISEASE$, prion/florid plaques in sporadic/variant Creutzfeldt-Jakob disease, nuclear inclusions in spinocerebellar @PHENOTYPICFEATURE$-1, and possibly Lewy bodies in Parkinson's disease suggest a close association of these diseases with 14-3-3 zeta.	false
+16917fe576ccf229e60060e756995496d44a67ab	@PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$.	false
+b16a20f5ff3ae4c18791199a840b2f45e9fbf35f	Among @DISEASE$ patients, @PHENOTYPICFEATURE$ is more frequent than in general population.	false
+ef04ac4080e87da44dd84ab539c587258dce0dee	@PHENOTYPICFEATURE$ was present in every fifth IBD patient and ID in every third @DISEASE$ patient.	false
+c3f60a80f8331163833949aff4014cf50507e31b	@PHENOTYPICFEATURE$ was present in every fifth @DISEASE$ patient and ID in every third IBD patient.	false
+f8ccc6f24a870b016d3a49880e0c5c5a4594f851	? Voxel based morphometry reveals @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ee8308b5e8ef64f1b521bbc423f70210b09f1eaf	Episcleritis, scleritis, and @PHENOTYPICFEATURE$ were more common among patients with @DISEASE$.	false
+543fa29b9b068358cb44b58a1ecd008a56c3ddfa	Decreases in GPx activity corresponded with @DISEASE$ activity, @PHENOTYPICFEATURE$, inflammation, and malnutrition.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+a156096efeb28a4e04386708edf0759a364ef6f2	@PHENOTYPICFEATURE$ was present in 40.27 % of @DISEASE$ patients.	false
+f3e456a56414409593384844710d7149a85073ca	Preoperative @PHENOTYPICFEATURE$ and outcomes in patients undergoing surgery for @DISEASE$.	false
+ddacfb4f1a0564a47b157b5913c610c2430fd61c	@PHENOTYPICFEATURE$ in patients with @DISEASE$: a subclinical extraintestinal manifestation.	false
+7708122693828b9ae18c560a78b140ca93e2058c	Mild abnormalities in liver biochemistries were reported with vemurafenib use in 30% of subjects, 11% developed severe @PHENOTYPICFEATURE$, and @DISEASE$ has been reported (Table ).	false
+58b8fe53453258d867a238d01358b3b8475ca46f	Some, but not all, of these reports suggest that hepatitis A superimposed on chronic hepatitis B or other chronic liver diseases is associated with higher peak @PHENOTYPICFEATURE$, more severe disease, including @DISEASE$, and a higher case fatality rate.	false
+e35d3cb52cca5c171ff0625e0839e03bc7e4e4bb	@PHENOTYPICFEATURE$ are common findings in @DISEASE$ (ALF) that underlie its fatal outcome.	false
+0f5d542c70e825b7c7fa0d2d2cd121e9078047cc	@PHENOTYPICFEATURE$ in @DISEASE$; pathogenetic and therapeutic implications.	false
+b9a443801a9767dcaa833d0f5c1d102c44dd5487	A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO s?ndrome (progressive encephalopathy with oedema, hipsarrhythmia and @PHENOTYPICFEATURE$), Joubert syndrome, @DISEASE$, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia.	false
+4f0f8b75c752655d668179b56e15510a01bbdace	@DISEASE$ can be associated with multiple cerebellar eye signs including ocular flutter, square-wave jerks, and congenital @PHENOTYPICFEATURE$.	false
+f2a4a5a15b82f8de80478d45bc14106ad5a43aec	@DISEASE$ (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, macrocephaly, typical facial features, and @PHENOTYPICFEATURE$, is caused by heterozygous variants in the ZBTB20 gene.	false
+7785b139b75f8235ad343c30ee18d7d1ea2db22e	The association with a group of other conditions, particularly @PHENOTYPICFEATURE$ @DISEASE$ has proved to be a remarkable feature, but not only in the malignant forms.(ABSTRACT	false
+e0d6431a6e92a236f489b1a02dd49127512e286b	Common abnormalities that were detected in <?10% of cases at 11-13?weeks included ventriculomegaly, @PHENOTYPICFEATURE$, @DISEASE$, congenital pulmonary airway malformation, ventricular septal defect, abdominal cysts, unilateral renal agenesis or multicystic kidney, hydronephrosis, duplex kidney, hypospadias and talipes.	false
+f014a098a67c03052f828362ad4b322c21d94081	We used four fetal anomalies as case study examples in the questionnaire: @DISEASE$, hypoplastic left heart, @PHENOTYPICFEATURE$ and trisomy 21.	false
+7a71b94bead4548cd7a7f496bcfe9a9dc111a745	The authors prospectively evaluated 200 consecutive patients from a dizziness clinic and 200 patients from a migraine clinic for migrainous vertigo based on the following criteria: 1) recurrent vestibular symptoms (rotatory/positional @PHENOTYPICFEATURE$, other illusory self or object motion, head motion intolerance); 2) migraine according to the criteria of the International Headache Society (@DISEASE$); 3) at least one of the following migrainous symptoms during at least two vertiginous attacks: migrainous headache, photophobia, phonophobia, visual or other auras; and 4) other causes ruled out by appropriate investigations.	false
+69af44a8bbca93bc1fdca49b1158e6279158dccf	Twenty four cases of malignant gliomas, histologically 12 glioblastomas, 10 astrocytoma GIII and 2 astrocytoma GII, were treated by interstitial @PHENOTYPICFEATURE$ with Implant Heating System (@DISEASE$).	false
+b97d86482ca19274b04b81344f43ef8ca8eadca6	Relationship between fatigue and @PHENOTYPICFEATURE$ in joint hypermobility syndrome/@DISEASE$.	false
+34526f21457a44f2eb3bd5295dfe5c2b4ad4a0cd	@PHENOTYPICFEATURE$ is common in patients with @DISEASE$.	false
+137c3160a65b03e330eee8a1788a3424eee1e0fc	Clinicians should be aware of the high prevalence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+b05aa8056634b0fcc9f9c284fdd8761257c2e92c	Eye movements evoked by electrical vestibular stimulation (@DISEASE$) offer potential for diagnosing @PHENOTYPICFEATURE$.	false
+00cc5356c7e048dd2ab35b38e15305849ddef26e	Of those ears with @DISEASE$, 29 (78.4%) had one or more inner @PHENOTYPICFEATURE$.	false
+e6166d51002c1359520aa7925e76a9c15424b190	Carotid atherosclerosis (CA) may be causative in the development of WMH, SBI and @DISEASE$ @PHENOTYPICFEATURE$.	false
+2bd0b1e8972b7907aac7b3e822c7f9d9efc8b1f9	Enlarged vestibular aqueduct (@DISEASE$) is an inner @PHENOTYPICFEATURE$ occasionally associated with sensorineural hearing loss (SNHL) and/or dizziness.	false
+4a01b69e7fdde9d35cf40ac43fc0f4fc01910e2d	Enlarged vestibular aqueduct (@DISEASE$) is an inner ear anomaly occasionally associated with @PHENOTYPICFEATURE$ (SNHL) and/or dizziness.	false
+1176ef5e2e829a9e724477ca638b9a9d3894e5d8	Review of radiographs was done to evaluate for the presence of @DISEASE$ and other inner @PHENOTYPICFEATURE$.	false
+f0e5ce9523f0dc6fdc94d0531f550223defe7ab4	If left untreated, permanent @PHENOTYPICFEATURE$ or @DISEASE$ blindness may ensue.	false
+f171907d8ec34a5e5bfedbd929040a65178e5916	While a strong correlative relationship between @DISEASE$ and hearing loss is well established, its association with @PHENOTYPICFEATURE$ is less well understood.	false
+82b7e3e394068f955f7792ea0eef29a28a632c16	If not treated properly, it will cause @PHENOTYPICFEATURE$ and @DISEASE$ blindness.	false
+e047fad02e0d6cf7c8fb75f59faf3fde4da0fca6	Autosomal dominant hyperuricemia, gout, @PHENOTYPICFEATURE$, and progressive renal insufficiency are hallmarks of a disease complex comprising @DISEASE$ and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	false
+b799ff905c80594347786dca878cfc78bccb3c44	To assess a possible role for the HNF-1beta gene in some FJHN kindreds we sequenced the HNF-1beta gene in subjects from three unrelated @DISEASE$ families with atypical features of @PHENOTYPICFEATURE$ or abnormalities of renal development.	false
+e6f2bed404cad97d44a423a08e7fd41829c950a4	Six individuals, including our patient, have been reported with giant cellulitis-like @DISEASE$; four had @PHENOTYPICFEATURE$, two had a hematologic malignancy, and one had breast cancer.	false
+d21b3380b394e22af2815c00f322f1218c572190	We describe five infants in whom segmental hemangiomas involving the upper torso and extremities with absent or @PHENOTYPICFEATURE$ hemangiomas were associated with structural anomalies similar to those reported with @DISEASE$, including three with structural arterial anomalies of the subclavian arteries, three with aortic arch anomalies (right sided or narrowed arch), two with congenital heart disease (atrial septal defect and ventricular septal defect; tetralogy of Fallot), one with a retinal scar, and one with a sternal defect (scar).	false
+2ce1f02594dee9c5fc2129fcce06f9bd414dd853	@PHENOTYPICFEATURE$ haemangioma and supraumbilical raphe--a forme fruste of @DISEASE$?	false
+0a78c5f06e2c48c53a3c88d7b64996422fbabfc6	There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for @DISEASE$, the renaming of @PHENOTYPICFEATURE$-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1.	false
+3f0c45e02236657b8f2dc887078daf02728e3144	By analogy with @DISEASE$, defined as association of segmented facial haemangioma with cerebral, ocular and cardio-aortic abnormalities, PELVIS/SACRAL syndrome denotes the association of segmented haemangioma of the loins (sacrolumbar region, buttocks or perineum=napkin haemangioma) with @PHENOTYPICFEATURE$ affecting the sacrolumbar spine, the terminal medullary cone, the genitourinary organs and the anal region to different degrees.	false
+b9042c1f32f6a6577dddfa12eb64dfec3d4a3aae	@DISEASE$ @PHENOTYPICFEATURE$ disease management in 3 tertiary care centers: key clinical components and venues of care.	false
+628a9821c2462ab1833504a89c119fba7abab3cb	In conclusion, @PHENOTYPICFEATURE$ was documented in 60% of the patients and must be included among the clinical features of @DISEASE$22q11 syndrome.	false
+d4cb6afcdcac399dd56bbbe92fc6898b5c578604	The aim of this study was to evaluate the prevalence of @PHENOTYPICFEATURE$ in @DISEASE$22q11 syndrome.	false
+db662f017bf6f416ccb2a722177115e53114d6fd	Compared with patients without SVA, patients with new onset @DISEASE$ were older (69 ? 12 yrs vs 59 ? 13 yrs, P=.003), had @PHENOTYPICFEATURE$ (47% vs 24%, P=.015) and dyslipidemia (41% vs 15%, P=.002).	false
+c7ec6223fff8b2f539108477bcdf4859e7022a45	New onset @DISEASE$ was prevalent in AA patients with severe sepsis and occurred more frequently with advanced age, increased severity of illness, @PHENOTYPICFEATURE$, and acute respiratory failure; it was associated with higher unadjusted in hospital mortality.	false
+e988512acaec9aa92ee6c66860b92e4eb2ac5699	We emphasize the importance of other @PHENOTYPICFEATURE$ associated with @DISEASE$ as well as the development of coronary insufficiency.	false
+f31f20810c250f5c6b63534021421c72299d835a	In conclusion, it is important to select the appropriate surgical treatment according to the location and the severity of associated other @PHENOTYPICFEATURE$ as well as the severity of SVAS, and extended peripheral pulmonary arterioplasty is considered to be a recommended method for the relief of severe multiple PPS associated with @DISEASE$.	false
+925acdcf60bfac874a18c5320005dd64f2bdda2e	In the other, @PHENOTYPICFEATURE$ occurred in one member and @DISEASE$ in the other.	false
+fc3cdf2d84095f1b2e1332adb48832d8cd02ed25	@DISEASE$ with polysplenia and @PHENOTYPICFEATURE$ were present in the second affected sibling of the second family.	false
+fdbcc5d3c7810053c93c4741c7da3313eabd1b1c	To report asymptomatic optic disc @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+00e16eafa868d894cd2bb4a19554be7abc558353	The variety of GI lesions includes ulcer, submucosal @PHENOTYPICFEATURE$, hemorrhage, paralytic ileus, mesenteric ischemia, bowel obstruction, and life-threatening perforation.The endoscopic and radiographic features of GI involvement in vasculitisare reviewed with the emphasis on small-vessel vasculitis by presenting our typical cases, including @DISEASE$, Henoch-Sch?nlein purpura, systemic lupus erythematosus, and Beh?et's disease.	false
+7654f10a0bd9d7c52f747b367ae56050a80f85f0	[Refractory @DISEASE$ revealing an epiglotis @PHENOTYPICFEATURE$].	false
+33e617b89d501e24f300d7332aa310110284b28b	We present a 14-month-old infant in whom clinical and laboratory abnormalities compatible with @DISEASE$ were noted several days after resection of a large pelvic @PHENOTYPICFEATURE$.	false
+4d2bd3213f18e8095447af983ecfb55392d3a5d7	The vWF-cp activity in patients with @DISEASE$ was markedly lower than those of patients with @PHENOTYPICFEATURE$.	false
+b4f2cbbc728d961936da6b8dc9f1f057dfdc9ed8	Acquired ADAMTS13 inhibitor causing @DISEASE$ (TTP) may be precipitated by some infections, inflammatory diseases or @PHENOTYPICFEATURE$.	false
+34e3c7923dfc717b9edd867ce80b45ce0202462b	It is primarily seen in advanced solid @PHENOTYPICFEATURE$ and is distinct from @DISEASE$/haemolytic uraemic syndrome.	false
+0f3c646f3b1da63b1a95cac6c8047dbfcfcfaf9c	Additional causes of significant thrombocytopenia include @PHENOTYPICFEATURE$ involvement of bone marrow and spleen; microangiopathic disorders such as disseminated intravascular coagulation, @DISEASE$ or hemolytic uremia syndrome.	false
+fa2adff726b43daaeeeb8d634c4211a1d8643787	Moreover, its activity deficiency in patients with @DISEASE$ (TTP) and solid @PHENOTYPICFEATURE$ was also investigated.	false
+a5d92590656bbac2c646e4e7554512bce5d8d770	Enhanced migration of MO toward supernatants of @DISEASE$-deficient @PHENOTYPICFEATURE$ spheroids was determined as the underlying principle.	false
+5a9c2e7b2b2da68e33cdbb26fd6ec7e05a12b8b1	Concurrent @DISEASE$ and immune thrombocytopenic purpura in a patient with metastatic neuroendocrine @PHENOTYPICFEATURE$ successfully treated with rituximab-CVP.	false
+061d0b31d2e9f8da328e428f3b34dc6097f319bb	Among the @PHENOTYPICFEATURE$ from short-term @DISEASE$ patients, one tumor (2%) was reclassified as anaplastic oligoastrocytoma (WHO grade III) while the remaining 53 were confirmed as glioblastoma multiforme.	false
+267b917d4e1fc16799f78ada31d4d829ae66216c	Among the tumors from short-term @DISEASE$ patients, one @PHENOTYPICFEATURE$ (2%) was reclassified as anaplastic oligoastrocytoma (WHO grade III) while the remaining 53 were confirmed as glioblastoma multiforme.	false
+af05a5e5c18dc03cd6f273c649fd9bd3731d2145	We investigated two women with @DISEASE$, ages 31 (patient 1) and 39 (patient 2) years, each of whom had suffered at least one documented episode of vitamin D2-induced hypercalcemia and renal @PHENOTYPICFEATURE$ during childhood.	false
+a613070748d9190ad4fb8c3bff2edbb051d777eb	We report herein a case of 62-year-old woman with @DISEASE$ (HS) and @PHENOTYPICFEATURE$ (CHF).	false
+51c7f462e9e3b4d18e5458b3587ea1f54ac0a306	Other associated abnormalities included tethering of the cord, @PHENOTYPICFEATURE$, duplex ureter, hydronephrosis, vesicoureteric reflux, neurogenic bladder, bicornuate uterus, rectovaginal fistula and @DISEASE$.	false
+39478297543030f73102b3e2641a01bbf51debc5	He presented with a history of bronchial asthma and @DISEASE$ without obvious @PHENOTYPICFEATURE$ symptoms.	false
+2010204ee0e6e3b31220cb0d28dac024d864264e	The revised International Headache Society (@DISEASE$) criteria for cluster headache are: attacks of severe or very severe, strictly unilateral @PHENOTYPICFEATURE$, which is orbital, supraorbital, or temporal pain, lasting 15 to 180 minutes and occurring from once every other day to eight times daily.	false
+2964e90c8bd91bf9992bd2c6cac9b63a4406f678	The revised International Headache Society (@DISEASE$) criteria for cluster headache are: attacks of severe or very severe, strictly unilateral pain, which is orbital, supraorbital, or temporal @PHENOTYPICFEATURE$, lasting 15 to 180 minutes and occurring from once every other day to eight times daily.	false
+23d1e6f659e688355bf07a1b7336237d7c96ff7d	The revised International Headache Society (@DISEASE$) criteria for cluster headache are: attacks of severe or very severe, strictly unilateral pain, which is orbital, supraorbital, or temporal @PHENOTYPICFEATURE$, lasting 15-180 minutes and occurring from once every other day to eight times daily.	false
+42c56be124dcc8e4d5af12f6e187b67f99e78953	The revised International Headache Society (@DISEASE$) criteria for cluster headache are: attacks of severe or very severe, strictly unilateral @PHENOTYPICFEATURE$, which is orbital, supraorbital, or temporal pain, lasting 15-180 minutes and occurring from once every other day to eight times daily.	false
+f9fe8315165536a61c33abe7d45d3561fe6c94b4	Definite retinal migraine, as defined by the @DISEASE$ criteria, is an exceedingly rare cause of transient monocular @PHENOTYPICFEATURE$.	false
+6964024727c2f2ee735002ce585bff8e7063758c	In 1988, diagnostic criteria for headaches were drawn up by the International Headache Society (@DISEASE$) and is divided into headaches, cranial neuralgias and facial @PHENOTYPICFEATURE$.	false
+ebc7abc48ceaf3a88d7310a94e4277020e168307	A completely new classification system for headache disorders, cranial neuralgias and facial @PHENOTYPICFEATURE$ has been prepared by a headache classification committee working within the International Headache Society (@DISEASE$).	false
+7b9b269fcf5dc34970f8db1fd14baa25b8b8a6d6	In 1988 the International Headache Society (@DISEASE$) introduced new diagnostic criteria for headaches and craniofacial @PHENOTYPICFEATURE$.	false
+effe92b6411608871bb961b373d52c4ca3b03413	V an Neck-Odelberg disease (VND) is a benign skeletal @PHENOTYPICFEATURE$ of the ischiopubic synchondrosis (@DISEASE$) in prepubescent patients.	false
+679fa28b292414ca6f98360b11fc16b5108ba83e	This mixed-method study sought to evaluate the perceived impact of a childhood @PHENOTYPICFEATURE$ @DISEASE$ intervention on health professional students' collaborative competency development within two domains: roles/responsibilities and teams/teamwork.	false
+66661dee02034355647d5838967835ba35573a75	@DISEASE$ mimics keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome at birth: Use of electron microscopy and genetic testing.	false
+ea33c62ed391a758bef02e30864751385a159e86	Other tested potential risk factors including @PHENOTYPICFEATURE$, @DISEASE$ and radiotherapy did not further increase the risk of ON.	false
+0ec6dde707e9949309ceb92483be2d47a95a532e	The risk of venous thromboembolism is moreover enhanced in patients with CS by additional endogenous and exogenous risk factors such as @PHENOTYPICFEATURE$, bed rest, surgery and invasive diagnostic procedures like inferior petrosal sinus (@DISEASE$) sampling.	false
+3ac0770eddeb49f6881c9dd6b2a899fc86486879	These pulmonary complications may be infectious (caused by virus, bacteria, fungi, or protozoa) or noninfectious (e.g., fluid overload, @PHENOTYPICFEATURE$, transfusion reactions like transfusion associated lung injury and transfusion-associated circulatory overload, drug reactions, engraftment syndrome, @DISEASE$, diffuse alveolar hemorrhage, cryptogenic organizing pneumonia, and bronchiolitis obliterans syndrome).	false
+5b9342cdb5d194f297e3c5109bd12c8a4a94aa2a	Frequently associated ocular changes include corneal abnormalities, @PHENOTYPICFEATURE$, glaucoma, and @DISEASE$.	false
+969d1e0b077851e01e15b29f30fa3f2266411a26	Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e475bf46a649bd2d07fe32cbeeb54b0d47dc6b15	Two affected siblings, a brother and a sister, had aniridia, nystagmus, @PHENOTYPICFEATURE$, increase in central corneal thickness, cataract, and @DISEASE$.	false
+5ae656e324a32825f801d31949d869cf95e97014	A woman and her two children had apparent dominantly inherited ocular abnormalities including aniridia, @PHENOTYPICFEATURE$, nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, and @DISEASE$.	false
+f6cd348b22e2a35ddeca3aebfff73038f17eea39	His two daughters and their children and grandchildren suffer from @PHENOTYPICFEATURE$, esotropia and @DISEASE$.	false
+e5f7db5909e732b60665b6650efa60eb56a23070	His son had @PHENOTYPICFEATURE$, aniridia, @DISEASE$, and nystagmus.	false
+a0d2e04250fecd136e2e78f902d4921c2ce54ecf	It is often associated with optic nerve hypoplasia, @DISEASE$, corneal pannus, nystagmus, and @PHENOTYPICFEATURE$.	false
+ab0a592bd52d56b4d3393bc29048d35d06dbe170	In a family @PHENOTYPICFEATURE$, esotropia and @DISEASE$ is dominantly transmitted.	false
+259feecb7a0bba74f6b4b8b78692fd565df5bf7c	Two patients in this family, the proband and his affected son, both have bilateral @PHENOTYPICFEATURE$, @DISEASE$ and nystagmus.	false
+6670354edd755090a73e64039934530d9e4687ac	OCT findings for nanophthalmic eyes with foveal underdevelopment are different from posterior @PHENOTYPICFEATURE$ and @DISEASE$ seen in other disorders.	false
+30c8431a96afae7cc643e82b154d4fe4f3ea2e3b	Other findings included partial aniridia, iris stromal hypoplasia, keratitis, @PHENOTYPICFEATURE$, glaucoma, optic disc anomalies and @DISEASE$.	false
+0aeac5261cc97c975315621f082d9a26800816f4	Even though the thyrotoxicosis is mild in patients with TSHoma, it is still a rare cause of @PHENOTYPICFEATURE$, ignore of mild disfunction of thyroid function of @DISEASE$ can lead to the delayed diagnosis of pituitary tumor or leading to recurring of complications.	false
+26ba6dc83fe18e89a629f0e49f2fc5b4dbc0e2cf	Even though the thyrotoxicosis is mild in patients with @DISEASE$, it is still a rare cause of @PHENOTYPICFEATURE$, ignore of mild disfunction of thyroid function of TSHoma can lead to the delayed diagnosis of pituitary tumor or leading to recurring of complications.	false
+8e4c49e9b55223b566472ee3b36376889e96af76	Systemic mast cell disease (@DISEASE$) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, @PHENOTYPICFEATURE$, fever, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy.	false
+826b05c0049c261b0352e3a495c9002dd03351d0	Renal and distal @PHENOTYPICFEATURE$ are probably features of @DISEASE$.	false
+5bf150947d5e931289a28713077fe79f4ef93a19	Noncardiogenic @PHENOTYPICFEATURE$ is prominent in @DISEASE$ as is cardiac dysfunction.	false
+d75ef734a8e2eace46afacba61741cf0ac90781c	In bivariate analysis, @PHENOTYPICFEATURE$ (P=0.033) and median age (10 months; P=0.005) were associated with @DISEASE$.	false
+4d7cd8de8e6f1defa0d9e5a7c8855f0bd43791a8	Mechanisms of MEC permeability and targets for resolving lethal @PHENOTYPICFEATURE$ during @DISEASE$ remain enigmatic.	false
+f9507018f7c8895ff251300d8c4b63f55af722f2	American hantaviruses cause a highly lethal acute @PHENOTYPICFEATURE$ termed hantavirus pulmonary syndrome (@DISEASE$).	false
+63e2ff4b65118251762ba1077a6dab3608620f8e	Hepatopulmonary syndrome (@DISEASE$) and portopulmonary hypertension (PoPH) are extrahepatic complications of @PHENOTYPICFEATURE$ (BA).	false
+b39b250fcb048c55cefc674d5e6fbf74b2166ea2	Significantly increased PEF and PBMC VEGF levels are consistent with acute @PHENOTYPICFEATURE$ observed in HPS patients and @DISEASE$ disease severity.	false
+a947bc43bb81e7c9da385d59c9dca6be16eda546	Significantly increased PEF and PBMC VEGF levels are consistent with acute @PHENOTYPICFEATURE$ observed in @DISEASE$ patients and HPS disease severity.	false
+673bc4281b54fd20228d03fd664461d13f64e1c3	yr) had @DISEASE$: @PHENOTYPICFEATURE$ (n = 8), idiopathic biliary cirrhosis (n = 4), progressive intrahepatic cholestasis (n = 2), miscellaneous (n = 4).	false
+711a89d87dbfbbec7e454e2a3bd4522ab648329e	The patient suffered from end-stage liver disease with @DISEASE$ due to @PHENOTYPICFEATURE$, which contributed to the development of a diffuse pulmonary AVF.	false
+929af55c777b3a55c0d67f066d72da15b2e9eb9d	This patient was diagnosed with @DISEASE$ associated with extra-hepatic @PHENOTYPICFEATURE$ when she was 10 years old.	false
+2456103f2eb9645fe0823dca8dda0f26b7df7ba1	However, the role of VEGF in acute @PHENOTYPICFEATURE$ observed in @DISEASE$ patients remains unclear.	false
+fa9b347681c64ca453882ccbfd0ea72bc7b052b1	Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of @PHENOTYPICFEATURE$ phenotypes that includes achondrogenesis type 1B (ACG1B), atelosteogenesis type 2 (AO2), @DISEASE$ (DTD), and recessive multiple epiphyseal dysplasia (rMED).	false
+e3839f2564694a0c7a47cacc6ea79189ea719b1d	@DISEASE$ (DD), an autosomal recessive @PHENOTYPICFEATURE$, results in short-limbed short stature, generalized joint dysplasia, and spinal, hand, foot, and ear deformities.	false
+263442aa791e4f47a55fef8bda4f41260202f49a	@DISEASE$ (DTD) is an autosomal recessive @PHENOTYPICFEATURE$ caused by SLC26A2 mutations.	false
+28d24230f3c8a3b117844ea1c3537812f7fc7f8a	Manifestations of typical @DISEASE$ in infants and older patients include abnormal pinnae, scoliosis, and @PHENOTYPICFEATURE$; these were absent in the fetuses, in keeping with the tendency for the clinical and radiologic aspects of this disease to become more severe with age.	false
+765cf35e3bc36db185c39d98c88a7c6c27909424	Maternal report of cold or flu with fever was significantly associated with 8 birth defects (anencephaly, @PHENOTYPICFEATURE$, encephalocele, cleft lip with or without cleft palate, @DISEASE$/stenosis, bilateral renal agenesis/hypoplasia, limb reduction defects, and gastroschisis) with elevated adjusted odds ratios ranging from 1.2 to 3.7.	false
+1b5a9c4521fa1a3b2e890af6ccdede404b7ad8d5	Such diseases include Friedreich @PHENOTYPICFEATURE$, @DISEASE$, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect.	false
+37e451352eef3e2a6949548f1b248f3a489d02b6	To examine the view of young adults and their parents on growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment in adolescence for idiopathic short stature (ISS) or @PHENOTYPICFEATURE$ born @DISEASE$ for gestational age (SGA).	false
+a739d7d4c5883598bc242607067208865149aa6b	To examine the view of young adults and their parents on growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment in adolescence for idiopathic @PHENOTYPICFEATURE$ (ISS) or short stature born @DISEASE$ for gestational age (SGA).	false
+17bc3d2d73e7d6adf24c7c82946ae64d1ef14e09	A variant with the additional features of severe atrophy of the @DISEASE$ hand muscles, dysarthria, mental retardation, and @PHENOTYPICFEATURE$ has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.	false
+a65290c5c4c11b43dc4a3d3e91db62a44a4953b4	Improvement in adult height after growth hormone treatment in adolescents with @PHENOTYPICFEATURE$ born @DISEASE$ for gestational age: results of a randomized controlled study.	false
+9ec445452b4c9034edc75c60dd94cb9cbf6a7196	To examine psychosocial functioning of medically referred adolescents with idiopathic short stature (ISS) or persistent @PHENOTYPICFEATURE$ born @DISEASE$ for gestational age (SGA) during 3 years of combined growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment.	false
+168c60da4fe410dfa9a10ff46e90bf8bb0bc7dc9	To examine psychosocial functioning of medically referred adolescents with idiopathic @PHENOTYPICFEATURE$ (ISS) or persistent short stature born @DISEASE$ for gestational age (SGA) during 3 years of combined growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment.	false
+c6830c5c7f802ec332f69c893f4007214503099a	Clinical features were: a marked acromesomelic @PHENOTYPICFEATURE$ (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, hypoplastic nails and teeth, diffuse alopecia, atrioventricular canal, hypoplastic mammary glands and a @DISEASE$ goiter.	false
+f9e1a67a972934bb05811e9462733f11d5dceadf	Our results suggest that frameless stereotaxy may be used as an alternative to current methods in localizing the IAC in patients with @DISEASE$ vestibular schwannomas or intractable @PHENOTYPICFEATURE$ undergoing middle fossa surgery.	false
+b4fce1eb1ac22491319b033b38ba060a65eefa3e	Individuals diagnosed with @DISEASE$ vestibular schwannomas who exhibited intractable @PHENOTYPICFEATURE$ were retrospectively reviewed.	false
+f49af4e1f34d05529f45efda97fadf5d959e3eb9	In healthy adults, the typical influenza syndrome includes @PHENOTYPICFEATURE$, cough, and general aches for three to seven days, but lassitude, cough, and evidence of @DISEASE$-airways disease may persist for weeks.	false
+a0eec4df643ceb0f7b5f9fc6648ba7b4f2429dbc	Four patients with @DISEASE$ adenomas, moderate hyperprolactinemia and short duration of symptoms showed signs of @PHENOTYPICFEATURE$.	false
+6f3fda7f06f25f6faa8205255775f6301b824397	To examine psychosocial functioning of young adults with idiopathic @PHENOTYPICFEATURE$ or short stature born @DISEASE$ for gestational age after growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment in early adolescence or no intervention.	false
+283a710732009133ccec852271f13687ec5162ec	To examine psychosocial functioning of young adults with idiopathic short stature or @PHENOTYPICFEATURE$ born @DISEASE$ for gestational age after growth hormone (GH) and gonadotropin-releasing hormone agonist (GnRHa) treatment in early adolescence or no intervention.	false
+ad549ed1459193a22a5bc0a4a76ced0b4a00d851	Anomaly of tail, @PHENOTYPICFEATURE$, @DISEASE$, omphalocele, deformity of the vertebral column, defect of the ribs and anophthalmia or microphthalmia were predominantly observed.	false
+ef8a38d20259f12a19cc6ba9060c0243a0dbc3cd	Major anomalies missed in the oligohydramnios group included cardiac anomalies, @DISEASE$, small ventral hernia, limb reduction defect, and @PHENOTYPICFEATURE$.	false
+9e1d0229af1e027e49b05b48989c51a8625422c2	We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including @PHENOTYPICFEATURE$, syndactyly, bilateral agenesis of the tibia, and @DISEASE$.	false
+6347c2cea4bdabff9cba993b33dd230d4c80a826	A case of bilateral Peters anomaly with bilateral post axial @PHENOTYPICFEATURE$, bilateral camptodactyly, and @DISEASE$ was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the newborn unit.	false
+87a900fb4943a0e844edec1b1089d37224c0e4e6	Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: @PHENOTYPICFEATURE$, @DISEASE$, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction.	false
+9a6f341930425df1f442f3103100549f277fde58	Spina bifida, @DISEASE$, exencephaly and @PHENOTYPICFEATURE$ were also observed frequently.	false
+938e8eeee210da43e1a151b391e42bdcfca55d66	A variety of gross malformations occurred, i.e. encephalocele, cranial meningocele, omphalocele, ectrodactyly, @DISEASE$, defects in tail, @PHENOTYPICFEATURE$, shortened backbone and Spina bifida occulta.	false
+0bdd44ea4ab6e638bd2f37207b7c51029140294a	A Kenyan baby girl of African descent who was born through a caesarean section presented in the new born unit of our hospital with bilateral corneal opacities, bilateral @PHENOTYPICFEATURE$, camptodactyly and @DISEASE$.	false
+f22d25c83a6e5923df0bf63032b9eb7eec46a6de	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including @DISEASE$, hypospadias, hydrocephalus, spina bifida/encephalocele, @PHENOTYPICFEATURE$, bladder exstrophy and imperforate anus.	false
+ebaad5c2d14736d9e2f4f37c1292ee40e8773629	Suspected cerebral edema @DISEASE$ (SCEDKA) is more common than perceived with symptoms including altered mentation, headache with @PHENOTYPICFEATURE$, depressed Glasgow coma scale (GCS), abnormal motor or verbal responses, combativeness, and neurological depression.	false
+47e86cae078c543ffe96669a3262b08295e2a6f4	The objective is to describe the incidence and nature of significant abdominal pathologies in patients with @DISEASE$ (DKA) and @PHENOTYPICFEATURE$.	false
+829196a5c8bd2b3c74d558490bac87dfb0e2d195	Suspected cerebral edema @DISEASE$ patients had GCS of 11 (range, 11-12), with consistent SCEDKA signs and symptoms (severe headaches with @PHENOTYPICFEATURE$, confusion, blurred vision, altered speech, lethargy, and combativeness).	false
+075f7cb9373d430af6897e9500bf8e84bed164e0	We describe a 37-year-old Caucasian woman with chronic pancreatitis secondary to excess alcohol consumption, admitted with @PHENOTYPICFEATURE$ and vomiting, fulfilling the criteria for @DISEASE$.	false
+679d8f578e04f95cecc01615e784e707da5201bc	We describe a 37-year-old Caucasian woman with chronic pancreatitis secondary to excess alcohol consumption, admitted with abdominal pain and @PHENOTYPICFEATURE$, fulfilling the criteria for @DISEASE$.	false
+571cab65c7c07bd146ae15f45ac151aacc608dbb	Changes in prevalence of @PHENOTYPICFEATURE$ and high waist circumference over four years across European regions: the European male ageing study (@DISEASE$).	false
+a2cbe6216d5c6214f501c02cfca0cedd12cb7c48	It is characterised by @DISEASE$, insulin resistance, diabetes mellitus, cardiomyopathy, renal failure and @PHENOTYPICFEATURE$.	false
+a5c2b119f3e1294cbe024dbec67f3cfad3f38ced	The major features of this syndrome are @DISEASE$, @PHENOTYPICFEATURE$, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness.	false
+95bd98289c6e213c856a20f2f88aa85cab54bea0	The condition appears to be intermediary between @DISEASE$ and Friedreich's @PHENOTYPICFEATURE$.	false
+8b2cec8968075c9036715140674e5528946bfa5d	@DISEASE$ with @PHENOTYPICFEATURE$ and partial myoclonic epilepsy.	false
+d52917c5fddfefa3fd70075e6e7630b1cab03540	Eighteen had @PHENOTYPICFEATURE$, 6 had @DISEASE$ and two had cerebral palsy.	false
+91e48c898fd162df0e533f56a1908c208d924104	Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3da1e93118dc67b08d2131c7ba5131fbc9458338	Familial myoclonic epilepsy with @PHENOTYPICFEATURE$ and neuropathy with additional features of Friedreich's ataxia and @DISEASE$.	false
+a529dc6953b329c2c4a8bc35c483fc0485932f88	@DISEASE$ and epilepsy with @PHENOTYPICFEATURE$ and choreoathetosis in the same family.	false
+936ad9bd87dab6c498277f6decbcc1936c422b86	[A case of @DISEASE$ with @PHENOTYPICFEATURE$, pyramidal signs and loss of deep sensations].	false
+4a081ccd58faa9f7ecae1b17f0135c9af3aec92d	The mother and one son were also ataxic; one other son had additional features of Friedreich's @PHENOTYPICFEATURE$, and a daughter had @DISEASE$ as well as myoclonic epilepsy and ataxia.	false
+10dfb294bcc80ff5fa890e8834d71c8d807661e9	The mother and one son were also @PHENOTYPICFEATURE$; one other son had additional features of Friedreich's ataxia, and a daughter had @DISEASE$ as well as myoclonic epilepsy and ataxia.	false
+86ad3b8646ef921e9dc7f5df67a537779293131d	The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had @DISEASE$ as well as myoclonic epilepsy and @PHENOTYPICFEATURE$.	false
+556b5b05020abf28184eb392f861c946b707b277	[Friedreich's @PHENOTYPICFEATURE$ with peripheral nerve involvement resembling @DISEASE$].	false
+31ea33d3580534a85525ea1feef1938f3abf3fc7	Association of Friedreich's ataxia and @DISEASE$ (familial @PHENOTYPICFEATURE$ with atrophy).	false
+5ec1474c342d3b9dc249f6391fc7fd918f618113	Association of Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$ (familial ataxia with atrophy).	false
+512654af390840c262273728b5279de84df9bd8b	[Familial @PHENOTYPICFEATURE$ with @DISEASE$ and optic atrophy].	false
+03b22a1a6b5469a2ae67a685a6ec23ce00df6f38	Congenital hemidysplasia with @DISEASE$ and limb defects (CHILD) syndrome is a rare X-linked dominant disease characterized by peculiar cutaneous presentations and @PHENOTYPICFEATURE$.	false
+ab978fa6b1d04e1dd5d3dd1bd90103f2fd33c101	@DISEASE$ (LI) is an autosomal recessive disorder rarely associated with systemic organ involvement and development of @PHENOTYPICFEATURE$.	false
+728a1418579f18b0a80689800ddd5597534bac5d	Congenital hemidysplasia with @DISEASE$ and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral @PHENOTYPICFEATURE$.	false
+42f0c00d2e1f834d9c0e4af54316432bf0497bc8	TTD phenotype has greatly varied from very subtle forms to severe alterations such as @PHENOTYPICFEATURE$, blindness, @DISEASE$ and gonadal malformations.	false
+6f0762bd98dc8f041a641c8a50724697a5bfbd68	@DISEASE$ is a rare disease associated with mild, nonspecific @PHENOTYPICFEATURE$ and a wide spectrum of imaging findings, with thickened mesentery and peritoneum being the most common ones.	false
+6b737510545c7cedac99994d00a9964f4cd3fa69	OM biopsy specimens from 69 patients diagnosed with @DISEASE$, intraepithelial squamous cell @PHENOTYPICFEATURE$, cancer in situ, and squamous cell carcinoma were examined.	false
+01a2df3ec494522aa081bcee8d9875d1e77b115e	The immunocompetent cells (B and T lymphocytes, mononuclear phagocytes, MPS cells) known to be responsible for the rejection of the HPV- (Human Papillomavirus) induced @PHENOTYPICFEATURE$ in the skin (warts) were analyzed in the infiltrates of 63 oral squamous cell lesions of suspected HPV origin (Condyloma, CA; @DISEASE$, FEH; Squamous Cell Papilloma, SQP) as well as in tumors thought to be unrelated to HPV (Fibrous Hyperplasia, FH; Papillary Hyperplasia, PH; True Fibroma, TF; Keratoacanthoma, KA), using the ANAE (acid alpha-naphthyl acetate esterase) technique.	false
+2cb8e8ac263250b8296b92da1a9b53de49276c2b	The immunocompetent cells (B and T lymphocytes, mononuclear phagocytes, MPS cells) known to be responsible for the rejection of the HPV- (Human Papillomavirus) induced tumors in the skin (warts) were analyzed in the infiltrates of 63 oral squamous cell lesions of suspected HPV origin (Condyloma, CA; @DISEASE$, FEH; Squamous Cell Papilloma, SQP) as well as in @PHENOTYPICFEATURE$ thought to be unrelated to HPV (Fibrous Hyperplasia, FH; Papillary Hyperplasia, PH; True Fibroma, TF; Keratoacanthoma, KA), using the ANAE (acid alpha-naphthyl acetate esterase) technique.	false
+06f3fabfcb725f603a690739c2756a0392bc1fe0	A series of 191 oral mucosal @PHENOTYPICFEATURE$ including those with suspected HPV (Human Papilloma Virus) etiology; squamous cell papilloma (SQP), condyloma acuminatum (CA), @DISEASE$ (FEH), as well as those regarded as unrelated to HPV; fibrous hyperplasia (FH), papillary hyperplasia (PH), and true fibroma (TF), were analyzed for HPV structural proteins (by indirect immunoperoxidase IP-PAP technique), for the presence of epithelial dysplasia, and for the cellular composition (B and T lymphocytes, mononuclear phagocytes, (MPS cells] of their local inflammatory cell infiltrates using ANAE-(acid alpha-naphthyl acetate esterase) stain.	false
+34cf0e1ba23bdd8050414ebb7e22adb70302a0a3	Support for its specificity to fibropapilloma derived bovine papilloma virus comes from (I) the absence of transformation associated changes following inoculations of normal bovine skin, bovine teat papilloma, bovine teat @DISEASE$ lesion and canine papilloma derived suspensions; (2) in vitro transformation occurs when CsCl purified fibropapilloma-derived BPV is used; (3) in vitro transformation experiments reported here parallel in vivo transmission of fibropapillomas described elsewhere using the same extracts; (4) the time-temperature inactivation of BPV using in vitro transformation parallels in vivo results and is similar to that reported for other papovaviruses; (5) BPV in vitro transformed cells are tumorigenic in nude mice and increase in vivo resistance in calves to subsequent challenge with fibropapilloma derived virus; (6) inhibition of in vitro transformation by bovine papilloma virus occurs when sera from calves bearing regressing fibropapillomas are used in conjunction with complement; (7) transformation inhibition activity may be adsorbed from high titre sera using BPV-induced @PHENOTYPICFEATURE$ cells or in vitro transformed cells but not using various virus suspensions.	false
+88dba3c3e0c0868aa95841b2f03a0b56c95a0581	@DISEASE$ mimicking @PHENOTYPICFEATURE$ at gastroenterostomy site.	false
+9410ebe50a4f61c019d30f0ab22964131a24bbe2	The entity is known by several names based on histopathologic variations such as @DISEASE$, oral florid papillomatosis, verrucous hyperplasia, oral florid verrucosis, and Ackerman's @PHENOTYPICFEATURE$.	false
+62928a6d83e682bb3a640ca9b3b4f18117ff2228	In the oral mucosa they have been associated with oral papilloma, @DISEASE$, leucoplakia and oral @PHENOTYPICFEATURE$.	false
+ebfa330906f32f4f890159245d92f13d5e59f601	Here, we report the delayed appearance of 3-MGA-uria, between 6 and 18?months in three patients (out of 100 childhood onset cardiomyopathy) with neonatal onset @PHENOTYPICFEATURE$, secondary to TMEM70 mutations and TAZ mutations (@DISEASE$), in whom extensive metabolic investigations, performed in the first weeks of life, did not display 3-MGA-uria.	false
+4974289eccbdda20437aa29f1f9f51866ac4280a	A 2-year-old Omani child with @DISEASE$ (HIES) had a 5-week illness characterized by fever, @PHENOTYPICFEATURE$ and acute mitral regurgitation.	false
+4db933260b87c0af31cab429bf9185adf59a9005	Conversion to tacrolimus resulted in chronic diarrhoea (@DISEASE$), @PHENOTYPICFEATURE$, polyserositis and failure-to-thrive.	false
+471cb0cf38693a7e69d5908b425a0ace96301adb	Primary extragonadal seminoma (@DISEASE$) is a rare tumor of young adults that often presents with bulky primary @PHENOTYPICFEATURE$ and metastatic disease.	false
+3dd80229d77d04c93b8a1d6b61b37eb0780d029d	Primary extragonadal seminoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ of young adults that often presents with bulky primary tumors and metastatic disease.	false
+d422316ffe86498a69330e163f1d126bb10b0b20	Microsatellite markers linked to juvenile @PHENOTYPICFEATURE$ epilepsy (EJM1), benign neonatal familial convulsions EBN1 and EBN2, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), idiopathic generalized epilepsy (@DISEASE$), progressive myoclonic epilepsy of Unverricht-Lundborg (EPM1), and partial epilepsy with auditory features (EPT), were also excluded as potential loci linked to the FC trait in our families.	false
+59de792bbcd35ccc3a4661f179028e6391ad0b34	Microsatellite markers linked to juvenile myoclonic epilepsy (EJM1), benign neonatal familial convulsions EBN1 and EBN2, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), idiopathic generalized epilepsy (@DISEASE$), progressive @PHENOTYPICFEATURE$ epilepsy of Unverricht-Lundborg (EPM1), and partial epilepsy with auditory features (EPT), were also excluded as potential loci linked to the FC trait in our families.	false
+60607ecc38dc3d5812dca1cb03ce94880610f90d	Two other endocrine-genotoxic switchings (@DISEASE$) involving phenomena ofJanus (dual) function of glucose and adipogenotoxicosis may produce similar influences on @PHENOTYPICFEATURE$ and other NCD biology.	false
+eda1cf55efb799c8a6112aaa9497d95d2a38b95f	We report the diagnostic difficulties and management of pregnancy on recurrence of @DISEASE$ @PHENOTYPICFEATURE$.	false
+899f0eb71e22b618da9ae7915ef6004ec97ff778	It is known by several synonyms (Vanek @PHENOTYPICFEATURE$, eosinophilic granuloma, etc.) and is sometimes mistaken for @DISEASE$.	false
+f747260f331a74a1789f5b92bf21ade62e7bb2bf	Reactivity of lectin from Xenopus laevis @DISEASE$ towards @PHENOTYPICFEATURE$ cells and human erythrocytes.	false
+3487c07c7e706107965f32e180ab286a16589fc3	Rarely do @DISEASE$ @PHENOTYPICFEATURE$ present in those younger than 40 years of age.	false
+9fd8261a255ecb2a465772393cf209356ca6a352	These lipid deficits correlate with progressive, age-dependent dendritic spine degeneration, synapse loss, neuroinflammation, @PHENOTYPICFEATURE$, and @DISEASE$ neurodegeneration.	false
+ef08f99926d604e3535d5b7ce8d88b3822c40426	VT insertion has numerous sequelae: increased susceptibility to infection, large perforation of the tympanic membrane, @PHENOTYPICFEATURE$, and @DISEASE$ hearing deterioration.	false
+1dda8b319bd9b0cbdec72577cb44220ad34fd698	Review of the literature suggests that exists a coherent sequence of changes for EEG, EOG and HR variables during the transition from normal drive, high mental workload and @DISEASE$ mental fatigue and @PHENOTYPICFEATURE$.	false
+9a1ac74646869de1e730fe6fdc82aa3a9b31ef59	@DISEASE$ and dermatomyositis are characterised by @PHENOTYPICFEATURE$ and fatigue even in patients with normal muscle histology via unresolved pathogenic mechanisms.	false
+8f9d2345e6108cb4966a9a24b359f018e467c84d	@DISEASE$ myoglobinuria and @PHENOTYPICFEATURE$.	false
+e6803cbee7e79cb6f91aaf6acedb3372ab380558	Dermatomyositis and @DISEASE$ (DM/PM) are associated with @PHENOTYPICFEATURE$.	false
+72c44bbe69cc0a753c28f3df3007049fb7c4685a	This is the first report @PHENOTYPICFEATURE$ in a patient with autosomal dominant polycystic kidney disease and dermato-@DISEASE$.	false
+5014cacdacd8b85ecbe1e62b3af90961b322810d	Dermatomyositis and @DISEASE$ are sometimes associated with @PHENOTYPICFEATURE$.	false
+55523dccbea0ed80b433cd134c7eff080d2b8076	To examine the clinical utility of @PHENOTYPICFEATURE$ markers in dermatomyositis/@DISEASE$ patients in Taiwan.	false
+9add5277567bcf35ea037784e96b57aaa1e58c1f	@DISEASE$ is characterised by an inflammatory reaction in skeletal muscle with a variable degree of @PHENOTYPICFEATURE$ and associated with skin lesions in the case of dermatomyositis.	false
+edcfb2ce366f6ebd282d7e1d32f1f13958890f4b	@DISEASE$ in a patient with multiple @PHENOTYPICFEATURE$.	false
+d0c44cb9a166dea2a49a7dadd84fb757a63d4b92	We have assessed the diagnostic values of serum @PHENOTYPICFEATURE$ markers for the detection of solid cancer in dermatomyositis/@DISEASE$ patients.	false
+0399faa9321c3093c190fc93dbc362da534df491	There are several case reports of other autoimmune diseases that develop after delivery; postpartum @PHENOTYPICFEATURE$ or postdelivery hemolytic-uremic syndrome, postpartum idiopathic @DISEASE$, postpartum syndrome with antiphospholipid antibodies, postpartum autoimmune myocarditis.	false
+43e1bd00aa65496ded99fd7cd9bef5b93f7b0235	Initially, the membrane was confused with the anterior lens capsule during extracapsular @PHENOTYPICFEATURE$ extraction, leading to the performance of a pseudocapsulorrhexis. Electron microscopy disclosed that the epilenticular membrane was composed of multiple layers of abnormal basement membrane consistent with the @DISEASE$.	false
+e9a7aa865d9fd3ead9b4343535f9b6b73c4a700f	Selective replacement of dysfunctional endothelium with DSEK can successfully treat corneal edema and associated @PHENOTYPICFEATURE$ and pain caused by @DISEASE$.	false
+7aa4d6d42e39bc9a45d75c496831e036b1dc0237	Five patients (four men and one woman ranging in age from 30 to 41 years) with the @DISEASE$ (four with Chandler's syndrome and one with essential iris atrophy) underwent penetrating keratoplasty for complaints relating to diminished visual acuity or @PHENOTYPICFEATURE$.	false
+88f111f058cb404cd59e0d0bf6de312a9876d675	Nevertheless, potentially meaningful changes have already been observed in corneal dystrophies (Meesmann's dystrophy, posterior polymorphous dystrophy and @DISEASE$), degenerations (pterygium) and inflammatory diseases (Pseudomonas keratitis), in opacification of the lens (anterior subcapsular and secondary @PHENOTYPICFEATURE$), in diseases characterized by proliferation of the retinal pigment epithelium (macular degeneration and proliferative vitreoretinopathy), and in intraocular tumours (uveal melanoma).	false
+5ae88816e37b9e605c5735c8f061f8b21ce6a8f1	These pain syndromes include varying combinations of the following symptoms: headache, referred otalgia, arthralgia of the temporomandibular joint, styloid syndrome, tendopathia of the hyoid bone, carotidynia, cervical @PHENOTYPICFEATURE$ and probably most patients with superior laryngeal nerve neuralgia or @DISEASE$.	false
+c12426399d672910ffa50927e774050d0981c4cf	A 64-year-old male with @DISEASE$, cardiac asystole and @PHENOTYPICFEATURE$ has been relieved of his attacks by intake of 400 mg of Carbamazepine per day over a 4-year period.	false
+8597a918986b7b1804eff6b79447b1a22313a554	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and @DISEASE$, arthritis and @PHENOTYPICFEATURE$.	false
+01fd8f6854bb038e2d81c6a5d6fcd51924b1218a	More and more reports in the literature indicate existence of links between the presence of selected autoantibodies with clinical correlations i.e. anti-RNA polymerase III with scleroderma renal crisis or anti-Ku and @DISEASE$, @PHENOTYPICFEATURE$ and joint contractures.	false
+1ab0c1a5aa5be0eee5a320eacd3570b6c62fc4e2	The clinical features of inflammatory @DISEASE$ are determined by the severity and extent of @PHENOTYPICFEATURE$ and systemic manifestations.	false
+7edc2b87c7ffb4b568d4ec1a9e38d834804ca723	[@DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+615f9e6d107ab9b5077542dfd42595ade21d0254	Extracutaneous manifestations include: fever, weight loss, @PHENOTYPICFEATURE$ or arthralgia, @DISEASE$ and hematological abnormalities.	false
+c1df2a3954a04c8b1917201e8e83cd55a35af0bc	Large vessel giant cell arteritis suggested by magnetic resonance imaging of the thigh: a potential mimicker of @DISEASE$, fasciitis and skeletal muscle @PHENOTYPICFEATURE$.	false
+0631b1ce734302d850fd0ba338530f37c41658c4	Influenza @DISEASE$ improve spontaneously within 6 weeks, but influenza rhabdomyolysis sometimes induce @PHENOTYPICFEATURE$ with fatal outcome.	false
+b0cf22f642d85a540132a49e7c8987852e8f7d05	Dermatomyositis (DM) is inflammatory myopathy or @DISEASE$ characterized by @PHENOTYPICFEATURE$ and skin manifestations.	false
+5e846feaed17ddf86f2b2acd553bf3ca4ade76d8	Using a case-control study design, anti-Ku antibodies were significantly associated with musculoskeletal manifestations such as clinical markers of @DISEASE$, @PHENOTYPICFEATURE$ and joint contractures.	false
+2c9d4eec576643f2461d1d8f7745cfc9061f9d2c	Using a case-control study design, anti-Ku antibodies were significantly associated with musculoskeletal manifestations such as clinical markers of @DISEASE$, arthritis and @PHENOTYPICFEATURE$.	false
+2e85ce890816b3a4576be73930077a1c1a414f7b	In adult patients with @DISEASE$, disease activity and @PHENOTYPICFEATURE$ are associated with poorer HRQoL in the physical health and environmental domains, respectively.	false
+b890a0d2830062a0105bc33debb98193e3ec4fd8	Dermatomyositis is a chronic @DISEASE$ and skin, presenting with @PHENOTYPICFEATURE$, characteristic rash, and classic serology findings.	false
+48eca7d0474cd1fb1ebd1c244b95d7c2e2920254	[Extreme degree @DISEASE$ caused by hypothetic double heterozygosity in a subject with severe @PHENOTYPICFEATURE$].	false
+0e680aaaaaf955a2edb3eef7ba32675bfbab6b51	We report on the unusual association of a malformation syndrome with @PHENOTYPICFEATURE$ resembling SLOS and profound hypocholesterolemia related to @DISEASE$.	false
+dca7c68308e8f8ed06296d0c40aa0cec0a6f42ba	Eye movement abnormalities in familial @PHENOTYPICFEATURE$ syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, @DISEASE$ and Wilson's disease.	false
+105d205ac12f98ed04bac1b57bc0150b328731d3	[Double gastric @PHENOTYPICFEATURE$ (lymphoma/adenocarcinoma) associated with @DISEASE$.	false
+87ca337532a99ef2643096774739d3d47805ffb6	The @PHENOTYPICFEATURE$ inclusions in the first two instances differ immunocytochemically from AAT liver cell globules found in inherited @DISEASE$, which are unreactive for alpha-fetoprotein.	false
+a8198745030914a1b96880b9f50adc7f16aa0947	Liver biopsies obtained during the first six months of life were studied in 15 children who had prolonged neonatal @PHENOTYPICFEATURE$ and @DISEASE$ (Pi ZZ).	false
+2dcef188210de32a8ea5e0b8ab280c0e28ac6532	Our results showed a low incidence of @DISEASE$ caused by the Pi*S and Pi*Z alleles among Filipino infants presenting with neonatal @PHENOTYPICFEATURE$, similar to the low carrier rate in the population.	false
+4a2433091de7cf3676714309112733671dc409e2	Two siblings with homozygous ZZ @DISEASE$ were discovered to have primary liver @PHENOTYPICFEATURE$ (both cholangiocarcinomas).	false
+04cbb3982adbb26e9e34bd0400ea55997d98d2ac	Patients with @DISEASE$, neonatal @PHENOTYPICFEATURE$ and subsequent fibrosis or normal liver morphology excreted bile alcohols within the normal range.	false
+7ce0168fb22acdc0d2dc7071103c5f289a8351a8	These observations suggest a structural change in the @PHENOTYPICFEATURE$ AAT analogous to that proposed for hereditary @DISEASE$.	false
+3845f8ae5ac1c52701c61939f6c2b5e975f5cac0	The aim of the study was to determine the incidence of @DISEASE$ among Filipino infants presenting with neonatal @PHENOTYPICFEATURE$.	false
+93987bb981ab19f4a5a7e0fd9a75a19e2cdbc541	The indications for liver transplantation included chronic active hepatitis progressing to cirrhosis (5), biliary cirrhosis in association with inflammatory bowel disease (1), sclerosing cholangitis (2), @DISEASE$ (1), and @PHENOTYPICFEATURE$ (1).	false
+8c52561f6d797c3c05dae1d1d8b8d6e62312a145	One hundred sixty-four consecutive cases of primary liver carcinoma were evaluated for @PHENOTYPICFEATURE$ type, (i.e., hepatocellular carcinoma [HCC], cholangiocarcinoma [CC], and combined hepatocholangiocarcinoma [CHCC]), and for signs of @DISEASE$ (AATD) in the surrounding liver tissue.	false
+2757956e3b2facd6bea3159fbad72c5fee75e443	Circumscribed acral hypokeratosis (@DISEASE$) is characterized by solitary or multiple circular, depressed, slightly @PHENOTYPICFEATURE$ patches on the palms or soles.	false
+64057a256d6ddb67de24637e71a8f7396437b024	Although seizures in CAH have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between @DISEASE$ and @PHENOTYPICFEATURE$ on the chromosome 6.	false
+e0b5c586a85e77005db6f295b83ee8463a368b6b	Although seizures in @DISEASE$ have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between CAH and @PHENOTYPICFEATURE$ on the chromosome 6.	false
+ac607ef5c9c68cc2ff6413d212ae97e0ce8375ff	A 43-year-old man with @DISEASE$ who complained about @PHENOTYPICFEATURE$ and sleep bruxism was diagnosed as obstructive sleep apnea (OSA) by polysomnography (PSG).	false
+aa59fb0911150f6d429f5eb1e2e1905fc41586cf	Chlamydia trachomatis is responsible for many million cases of @PHENOTYPICFEATURE$, pelvic inflammatory disease, urethritis, epididymitis, infertility and ectopic pregnancy annually; it also causes lymphogranuloma venereum, @DISEASE$, ophthalmia neonatorum and infantile pneumonia.	false
+48e579f70ef0b515c75289fa04ad8ab2cf618292	Historically, four phenotypical variants have been described: (1) the (classic) Bartter syndrome (cBS), (2) the hypomagnesaemic hypocalciuric @DISEASE$ (GS), (3) the hypercalciuric hyperprostaglandin-E-syndrome (HPS) or antenatal Bartter syndrome (aBS) and (4) the hyperprostaglandin-E-syndrome with @PHENOTYPICFEATURE$ (HPS + SND).	false
+19b602ababd20a6ab62101a5df6a2b90f3f80a34	We describe 5?infants diagnosed with @DISEASE$, in whom pulmonary hypertensive vascular disease was the?main presenting feature, and who developed severe @PHENOTYPICFEATURE$ in response to pulmonary vasodilators.	false
+b9e4acb8c1a9d5ad63ea68711b9c83c97e869bf2	@DISEASE$ presenting as pulmonary hypertensive vascular disease and fatal @PHENOTYPICFEATURE$ in response to pulmonary vasodilator therapy.	false
+9871fc5213b04f9de7168a956537fa54b7ab605f	Over the past year important observations have been reported in congestive @PHENOTYPICFEATURE$, @DISEASE$ (RSD), acquired immune deficiency syndrome (AIDS) and diabetes mellitus.	false
+a2f727659fc0ad9c22fcd5a1fa31ddf0b8c451e6	Overexpression of TGF?1 was associated with @DISEASE$ @PHENOTYPICFEATURE$ progression.	false
+c5b27b15ab55bcb41b348fcc4896c83d87177f45	CypA was upregulated in 68% of @DISEASE$ @PHENOTYPICFEATURE$ tissues.	false
+347136ce6236691cd9d9119fc6eed7e63fef78d4	These findings indicate that lupeol and stigmasterol effectively target tumor endothelial cells and suppress CCA tumor growth by their anti-inflammatory activities and are attractive candidates for anti-cancer treatment of @DISEASE$ @PHENOTYPICFEATURE$.	false
+4ecfdaf19f7ef7d47b97b24cbb09fcf48d0249eb	These findings indicate that lupeol and stigmasterol effectively target tumor endothelial cells and suppress @DISEASE$ @PHENOTYPICFEATURE$ growth by their anti-inflammatory activities and are attractive candidates for anti-cancer treatment of CCA tumors.	false
+5d1495bb0e9ff1f013a5cfeb82cb9cf6e7bdd00a	These findings indicate that lupeol and stigmasterol effectively target @PHENOTYPICFEATURE$ endothelial cells and suppress CCA tumor growth by their anti-inflammatory activities and are attractive candidates for anti-cancer treatment of @DISEASE$ tumors.	false
+e7d47551d7609be31ffa0f775f80bff80f34b9ef	These findings indicate that lupeol and stigmasterol effectively target tumor endothelial cells and suppress @DISEASE$ tumor growth by their anti-inflammatory activities and are attractive candidates for anti-cancer treatment of CCA @PHENOTYPICFEATURE$.	false
+9d5b936c2e2da53f735ad8ee9ab129214b568018	These findings indicate that lupeol and stigmasterol effectively target @PHENOTYPICFEATURE$ endothelial cells and suppress @DISEASE$ tumor growth by their anti-inflammatory activities and are attractive candidates for anti-cancer treatment of CCA tumors.	false
+c17712abb878bb12ee87bdcb2a6a094c9655442a	These findings indicate that lupeol and stigmasterol effectively target tumor endothelial cells and suppress CCA @PHENOTYPICFEATURE$ growth by their anti-inflammatory activities and are attractive candidates for anti-cancer treatment of @DISEASE$ tumors.	false
+89a043719e5e21868b9900e692e8489e4c3cd4c0	sLea was aberrantly expressed in 60% of @DISEASE$ @PHENOTYPICFEATURE$ tissues.	false
+505e3789c52af42d041d380aa2f815a97fb01294	myofibroblast cells in intrahepatic @DISEASE$ @PHENOTYPICFEATURE$.	false
+f48187179e4a38cadfeccfc667cb3c04aa21f178	RDE also inhibited @DISEASE$ @PHENOTYPICFEATURE$ growth in vivo.	false
+c807f179239803fb1d8b100d35dafd363f0b72b0	ASPH is highly overexpressed (>95%) in human @DISEASE$ @PHENOTYPICFEATURE$.	false
+6b10bac5c36f64bc9329517adbe6748b3e431dcb	Through abominably intricate interactions with CCA cells, @DISEASE$ tumour microenvironment plays an important role in promoting tumour proliferation, accelerating neovascularization, facilitating @PHENOTYPICFEATURE$ invasion, and preventing tumour cells from organismal immune reactions and apoptosis.	false
+fa0082573d2a661ff638aa86a57ac1b45a12beb6	Through abominably intricate interactions with @DISEASE$ cells, CCA @PHENOTYPICFEATURE$ microenvironment plays an important role in promoting tumour proliferation, accelerating neovascularization, facilitating tumour invasion, and preventing tumour cells from organismal immune reactions and apoptosis.	false
+9d62e5b70e8e5a2519bb0ef2fbbf662c83f4d5c8	Through abominably intricate interactions with @DISEASE$ cells, CCA tumour microenvironment plays an important role in promoting tumour proliferation, accelerating neovascularization, facilitating tumour invasion, and preventing @PHENOTYPICFEATURE$ cells from organismal immune reactions and apoptosis.	false
+76945d90088b1c9bd75ca8b383fe04a3ab3f120c	Through abominably intricate interactions with CCA cells, @DISEASE$ @PHENOTYPICFEATURE$ microenvironment plays an important role in promoting tumour proliferation, accelerating neovascularization, facilitating tumour invasion, and preventing tumour cells from organismal immune reactions and apoptosis.	false
+32f6e5761a337f5e631915ec12ba7cf9f5a26d78	Through abominably intricate interactions with CCA cells, @DISEASE$ tumour microenvironment plays an important role in promoting tumour proliferation, accelerating neovascularization, facilitating tumour invasion, and preventing @PHENOTYPICFEATURE$ cells from organismal immune reactions and apoptosis.	false
+4f0769a181d46defd7a94592c81dafaf88bed407	Through abominably intricate interactions with @DISEASE$ cells, CCA tumour microenvironment plays an important role in promoting tumour proliferation, accelerating neovascularization, facilitating @PHENOTYPICFEATURE$ invasion, and preventing tumour cells from organismal immune reactions and apoptosis.	false
+b9b2d555e690b11f9cb5d1049cc195aa7b588bd2	Through abominably intricate interactions with @DISEASE$ cells, CCA tumour microenvironment plays an important role in promoting @PHENOTYPICFEATURE$ proliferation, accelerating neovascularization, facilitating tumour invasion, and preventing tumour cells from organismal immune reactions and apoptosis.	false
+60bc6a514b624a2dff7fb9063ef0531100f84e31	Through abominably intricate interactions with CCA cells, @DISEASE$ tumour microenvironment plays an important role in promoting @PHENOTYPICFEATURE$ proliferation, accelerating neovascularization, facilitating tumour invasion, and preventing tumour cells from organismal immune reactions and apoptosis.	false
+85b394e5615ed99c9d0a4e358fea49a448a3544e	Most patients with @DISEASE$ have an unresectable @PHENOTYPICFEATURE$ at the time of diagnosis.	false
+42345c25576131906e6c478a6754727253a5d8c1	Cholangiocarcinoma (@DISEASE$) is a biliary epithelial @PHENOTYPICFEATURE$ with poor prognosis.	false
+20c3b9e931fcc553bb5ac68bb2e9550b5f924dd2	Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, @PHENOTYPICFEATURE$, Alzheimer disease, atypical @DISEASE$ (CADASIL), corticobasal syndrome, and atypical Parkinson disease, suggesting that ALSP may be significantly underdiagnosed.	false
+ccbccee9d2db0a31690911984241a554bf59f4c4	When 15 of the 21 patients were diagnosed as having @DISEASE$, they displayed renal involvement including proteinuria, @PHENOTYPICFEATURE$ and hypercreatininemia.	false
+1bf6397b47feceb1f81cb3c46d73b8f0712c6c08	Besides its use for the control of @PHENOTYPICFEATURE$, carbamazepine is being increasingly prescribed for neuropathic pain and depression, and this may explain the increased incidence of cutaneous drug reactions, namely Setevens-@DISEASE$ (SJS)/Toxic Epidermal Necrolysis associated with this drug.	false
+bc32679b749f9959c9bf970a270be7db32e6c65d	Riboflavin transporter deficiency (@DISEASE$) is a rare recessive neurodegenerative disorder that can present with @PHENOTYPICFEATURE$, primarily due to sensory neuropathy as well as cerebellar involvement.	false
+71289da30425cb578e29cdbf6caaca83053c46f3	@DISEASE$ (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with @PHENOTYPICFEATURE$, primarily due to sensory neuropathy as well as cerebellar involvement.	false
+c1e173b5a45bcb052e0d501f58f69f6c84e52a57	Risk factors for @PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$: a retrospective cohort study.	false
+34e05113365c4ba5500f979d082553014f7f64d2	[@DISEASE$ with intracranial @PHENOTYPICFEATURE$ formation--case report].	false
+91b0fc8e1134e93cce7b2c9c013875b133f61e49	These @PHENOTYPICFEATURE$ are considered as specific lesions of @DISEASE$.	false
+8cf697f4f67827dcb743f1c72c0fa49a9919a06a	Successful treatment with micafungin of invasive pulmonary aspergillosis in @DISEASE$, with @PHENOTYPICFEATURE$ due to amphotericin B therapy.	false
+1cdea583620de1e22965a843e05e05e0aa469990	A 68-year-old male presented with @DISEASE$, @PHENOTYPICFEATURE$, hypokalemia, and enlarged kidneys on renal ultrasound.	false
+7d19c8e78fbd0c2dfabfc8b001913b479780e93f	STAT3? is a @PHENOTYPICFEATURE$ suppressor in @DISEASE$.	false
+d946bdbbd394d747f825a5efa19b8dd0b8eae3dc	@DISEASE$ (AML) is a complex hematological disease characterized by genetic and @PHENOTYPICFEATURE$.	false
+19ef266c2fa0e1b1c6a4be9724c93f83b8445f88	Simultaneous @PHENOTYPICFEATURE$: @DISEASE$ infiltrating mediastinal ganglioneuroblastoma.	false
+6db851089d15dc052b11c90ca3100e2bae428861	Is @DISEASE$ a liquid @PHENOTYPICFEATURE$?	false
+a4119e00d3682d80b5ae4a9c39467316d8aa7688	@DISEASE$ following chemotherapy for gestational trophoblatic @PHENOTYPICFEATURE$.	false
+2d232a3b102bb86c505120a55cd95fd3fff748bc	Generalized and focal seizures can rarely be seen in @DISEASE$ patients, but @PHENOTYPICFEATURE$ were not reported previously.	false
+eb0bbfad0f93859357072acd4f39175be31d530a	Despite the dramatic response of sick neonates with @DISEASE$ to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal @PHENOTYPICFEATURE$, and ataxia, often develop.	false
+bf80a9bf8f84a56f33bcf8314261ad0c2d83321a	Findings support the need to study risk factors for the high occurrence of motor @PHENOTYPICFEATURE$ in @DISEASE$ despite early compliant dietary management.	false
+774aadc57aa561fdcb5a74cbd35ff177e0f74e46	@DISEASE$ and phantom @PHENOTYPICFEATURE$.	false
+c75557670de5d74539496529979299b0e2a4889c	Despite early dietary therapy, many patients with @DISEASE$ show a neurodegenerative disease specially evident in @PHENOTYPICFEATURE$ and movement disorders.	false
+4d16a55f97d7609545231ef278e2e7365f9b59d5	Four nonexcretors on scintigraphy had a final diagnosis of neonatal hepatitis with @DISEASE$; the remaining 16 had extrahepatic @PHENOTYPICFEATURE$.	false
+9516ff3d350251a0e24dac7d8f3f3599d736387a	Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), @DISEASE$ (4), @PHENOTYPICFEATURE$ (4) and tyrosinemia (2) were the most commonly diagnosed IEMs.	false
+56291b340def708bb158592691d21cb4f80bad35	Children with @DISEASE$ and @PHENOTYPICFEATURE$ have a 4-6 times greater risk for language impairment than children with early speech disorders of unknown origin.	false
+5fa140f7c26b1f1b7488761d050d323ecc152b58	Children with @DISEASE$ and speech disorders have a 4-6 times greater risk for language impairment than children with early @PHENOTYPICFEATURE$ of unknown origin.	false
+d227113c235da850aa8a4eb771ccc180ab819fbc	In this review, only the diseases with diagnostic, therapeutic or prognostic peculiarities are commented, including extrahepatic @PHENOTYPICFEATURE$, idiopathic neonatal hepatitis, @DISEASE$, and Alagille s syndrome.	false
+c268e2d7e7d93388d4c700be8661e957e3d7f2e4	Method This is a case-control study of 32 children (66% male) with @DISEASE$ and neurologic @PHENOTYPICFEATURE$ and 130 controls (50% male) ages 4-16 years.	false
+47b2a1635c2293ee48f3c01bb73d92d95d82454f	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, patellar hypoplasia or aplasia, and nephropathy.	false
+7a95b2db18bea11dfff3e1b72f478e5ec72605eb	@DISEASE$ is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and skeletal anomaly.	false
+3ea20df19318d82238af637912f3f710bef5b52a	@DISEASE$ is an uncommon inherited disorder characterized by @PHENOTYPICFEATURE$, iliac horns, and knee and elbow abnormalities.	false
+37a5425d2d572bb4d82045689ede60affb8e8f8d	These data suggest that @PHENOTYPICFEATURE$ in patients with @DISEASE$ is not caused by structural abnormalities of the epidermal basement membrane.	false
+1dcb90a8642e21c40a9ab8f96963c7426d64b7af	@DISEASE$ (NPS) is a rare, autosomal-dominant hereditary disorder characterized by @PHENOTYPICFEATURE$ and multiple osseous abnormalities.	false
+5cfdbaf38691d61f3f53b3aceed5bc2fa3056f70	Phenotype severity and genetic variation at the disease locus: an investigation of @PHENOTYPICFEATURE$ in the @DISEASE$.	false
+aac49863c8647900a536618ba0f47bbaee633e5b	The patient presents @PHENOTYPICFEATURE$, a sign typical of @DISEASE$, but normal patella.	false
+3acc63ece7fe406942e2b0af6ee2cfe47c011b7f	Hereditary osteo-onychodysplasia (HOOD, @DISEASE$) is an autosomal dominant condition characterised by @PHENOTYPICFEATURE$, patellar hypoplasia or aplasia, and nephropathy.	false
+aa1d3f17458d20dd75de165e7489173476b61fd0	@DISEASE$ (NPS) is an autosomal dominant disease characterized by @PHENOTYPICFEATURE$, absent or hypoplastic patellae, elbow dysplasia, and nephropathy.	false
+955f9fbeb25bf0e3a6cb60e088e80b90472213bb	@DISEASE$, or osteo-onychodysplasia, is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, absent or hypoplastic patellae, iliac horns and nephropathy.	false
+93aa0f9b98676400bca0979b15d544dd2051170a	We report on a child with @DISEASE$ who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and @PHENOTYPICFEATURE$ with speech impairment.	false
+90b8bf4dcd5ce0318a4d487dac86c1c1de5460ed	We report on a child with @DISEASE$ who shows @PHENOTYPICFEATURE$ of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment.	false
+5c83d29f337045a31bc8a5d47c7eaa9130ebab1a	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+130f2ab976bb1c9245f23d39bd6cd78cbde7d9b2	@DISEASE$ is an autosomal recessive condition characterized by @PHENOTYPICFEATURE$ of fingers and toes, microcephaly, growth retardation and abnormal facies.	false
+5c83d29f337045a31bc8a5d47c7eaa9130ebab1a	@DISEASE$ is an autosomal recessive condition characterized by variable soft tissue @PHENOTYPICFEATURE$ of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.	false
+fa543ddf7fd29bf79b351ce74d7b4144a4dba24c	Short stature, microcephaly, characteristic face, @PHENOTYPICFEATURE$ and mental retardation: the @DISEASE$.	false
+c82dc7a1c6412250c74797e2cfa406975e09cd9a	@DISEASE$ is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, @PHENOTYPICFEATURE$, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi.	false
+aeb0ab0ab99bd8fdaa397cbf1398a9cd438438ee	We report on a child with @DISEASE$ who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b8dc142cbf961dd0fa7e3d1c2b32baf245c6e6b4	Pseudoachondroplasia (PSACH) is a spondylo-epi-@DISEASE$ characterised by @PHENOTYPICFEATURE$, generalised ligamentous laxity and precocious osteoarthritis.	false
+4edb8c0b0ec4fe8aaf6f8efdaefd7009695d70c1	Pseudoachondroplasia (PSACH) is a spondylo-epi-@DISEASE$ characterized by @PHENOTYPICFEATURE$, generalized ligamentous laxity, and precocious osteoarthritis.	false
+9a767d1087d708addc2b317de3a35da618b39edb	Duchenne muscular dystrophy (DMD), @DISEASE$ (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of @PHENOTYPICFEATURE$, acidemia, mental retardation, or stupor.	false
+d3b5ee605bed18120ba514399cf56c690ad51ac0	We confirm that @DISEASE$ represents a distinct syndrome, probably unrecognized, possibly caused by a de novo @PHENOTYPICFEATURE$ in a not yet identified gene.	false
+a8d6cdbb36217999f1d92f5add92d63e1a55fbb6	We summarized the characteristics of @PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$ and analyzed the predictive factors of recurrent seizure events.	false
+7689866070724a6fa5e742f7733a37d770151df3	We summarized the characteristics of seizures in pediatric patients with @DISEASE$ and analyzed the predictive factors of recurrent @PHENOTYPICFEATURE$ events.	false
+397603a2b0cb99cfff11ff764c49fcd382eaad60	Patients were divided into ODI score ?40 (mild/moderate @PHENOTYPICFEATURE$, @DISEASE$) and ODI score >40 (severe disability, SD) groups.	false
+cafa70b13a630cb648c8ec7b471ece1ffc0ee295	@DISEASE$ in sibs with @PHENOTYPICFEATURE$, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.	false
+f35871d069c3f8f34be9c43716d9c42e6771caa9	We identified 28 pediatric patients with @DISEASE$ who had @PHENOTYPICFEATURE$ before revascularization.	false
+244410c0fb9161b6890e6bba70e88f9901a27f0c	The 2 common surgical modalities of @DISEASE$ (direct and indirect bypass) had no significant difference in future @PHENOTYPICFEATURE$ prevention in pediatric patients with MMD with epilepsy.	false
+8e37122fdd522eeee899d6f771346098eb77983d	The 2 common surgical modalities of MMD (direct and indirect bypass) had no significant difference in future @PHENOTYPICFEATURE$ prevention in pediatric patients with @DISEASE$ with epilepsy.	false
+a8d28c4a7a8787305062426b0cb42841557d1538	Pediatric patients with @DISEASE$ who had @PHENOTYPICFEATURE$ before revascularization were identified.	false
+97a51f69d21b4bf9f9f6537d1c36f6f846f4309e	@DISEASE$ can present clinically with hemiparesis, dysarthria, aphasia, headache, @PHENOTYPICFEATURE$, visual deficits, syncopes or changes in personality.	false
+56b8fa03dc8ccff33eaaebba575f1e34662361d6	Some of the symptoms caused by @DISEASE$ include transient ischemic attack (TIA) and @PHENOTYPICFEATURE$.	false
+04d37993e2d1c8ac2474ef6479258c388402f4c7	Despite the high reported incidence of mental retardation in @DISEASE$, none of our pilot population showed @PHENOTYPICFEATURE$.	false
+996cafb365fcdf035c71bf125d930b591d0303a7	Despite the high reported incidence of @PHENOTYPICFEATURE$ in @DISEASE$, none of our pilot population showed mental retardation.	false
+bc3e97b72f56e08999173b3e44065aaecb66b782	@DISEASE$ at 75 ppm (50 ppm Hg) for 24 days caused @PHENOTYPICFEATURE$ with a sudden onset at 21-27 days.	false
+e9bf9970e93632dd5ed18f881e035fbb39d5a310	SS features were similar in both SS-SSc and @DISEASE$ patients, except for @PHENOTYPICFEATURE$ and arthritis, which was more common in SS-SSc than in the pSS patients (P = 0.02 and 0.05, respectively).	false
+1c36a401ed4c55e4617c20abae40978f7bd862eb	SS features were similar in both SS-SSc and pSS patients, except for @PHENOTYPICFEATURE$ and arthritis, which was more common in SS-SSc than in the @DISEASE$ patients (P = 0.02 and 0.05, respectively).	false
+850b0a245ea2d3114480eddbff64f6bcbf7dc8f5	@PHENOTYPICFEATURE$ occurs in a large proportion of patients with @DISEASE$, in most cases as a subclinical demyelinating neuropathy.	false
+1cd1734a023e7b1d3e73e529f2c8b2db78c682d9	@PHENOTYPICFEATURE$ are commonly reported in pSS patients and sleep quality is lower in @DISEASE$ patients than in healthy controls.	false
+b9a13963a5fd769a5cc542ba8fd1c412c13f386f	For all participants, we observed clinically significant reduction/improvement in GDS, PHS, and @DISEASE$ scores and in symptoms (ESAS decrease ?1; means) of anxiety, fatigue, well-being, depression, appetite, @PHENOTYPICFEATURE$, and sleep.	false
+50b746047e2f3d1fe4ff9fb812d6fe9440c44973	@PHENOTYPICFEATURE$ in @DISEASE$ often is refractory to treatment although newer biological agents may provide more effective treatment options.	false
+01fdd6d1eb389536e2d1c984e4732b90aad76537	We conducted this study to characterize the relationship between primary Sj?gren syndrome (@DISEASE$)-associated @PHENOTYPICFEATURE$ (PN) and markers of B-cell monoclonal proliferation and chronic activation.	false
+0778888b1fd51dc580448660007ce5b4f529173e	The unusual occurrence of cranial (trigeminal) and @PHENOTYPICFEATURE$ in a case of progressive systemic sclerosis (@DISEASE$) is described.	false
+c4b6a23de3ce40617daea8561dc9fcd30f645f7a	@PHENOTYPICFEATURE$ is the most common and well-known neurological complication of @DISEASE$.	false
+a553f8bcf27141687a43958141f48f666e5be150	Such subclinical distal @PHENOTYPICFEATURE$ was also verified in a selected sample of 17 patients with @DISEASE$, without clinical symptoms or signs of PNS involvement.	false
+4df2c88d7007549992e65e5b05d73c031dc74c18	The clinical and therapeutic aspects of primary Sj?gren syndrome (@DISEASE$) in patients with @PHENOTYPICFEATURE$ were analyzed and the specifics of individual case studies are discussed.	false
+8b10e64898a023f776f77075ab00cf6945f81f9f	Our findings, rather than extend the clinical spectrum of @DISEASE$, suggest that @PHENOTYPICFEATURE$ can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS.	false
+5999adab474ee1952f75bef72fa36ca39f2d39fa	The condition appears to be genetically heterogeneous and recently it has been demonstrated that mutations in the p63 gene, a homologue of the @PHENOTYPICFEATURE$ suppressor gene p53, are the cause of at least four autosomal dominant genetic syndromes which feature ectrodactyly: ectrodactyly, ectodermal dysplasia, and facial clefting (EEC), split hand/split foot malformation (SHFM), limb-mammary syndrome (LMS), and @DISEASE$ (ADULT).	false
+277445dd2e547291b3dadf00f7b4556c8defef65	Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-@DISEASE$, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, @PHENOTYPICFEATURE$, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura.	false
+5fb0105d603e8d876fd44679e72a1c571a277a3f	After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, @PHENOTYPICFEATURE$, an abnormal electroencephalogram, @DISEASE$, glaucoma and widely spaced toes.	false
+f0aaf4efc46c1347f7c99449ed19ba8344fa2afd	In familial forms of PHPT, several mutations have an established role: menin gene for MEN type 1, RET for MEN type 2a, calcium-sensing receptor gene for @DISEASE$, parafibromin gene for PHPT-jaw @PHENOTYPICFEATURE$ and carcinoma.	false
+43ed59583007e47cae995429b14399fa755ff8d0	This applies to hormone-secreting @PHENOTYPICFEATURE$ that begin as either polyclonal (such as in the parathyroids of @DISEASE$) or monoclonal tumors (such as in the parathyroids of multiple endocrine neoplasia type 1 [MEN1]).	false
+fd5a9e80476ed5495d0966ef5e08199af33ab6c7	This applies to hormone-secreting tumors that begin as either polyclonal (such as in the parathyroids of @DISEASE$) or monoclonal @PHENOTYPICFEATURE$ (such as in the parathyroids of multiple endocrine neoplasia type 1 [MEN1]).	false
+5395c44251de29f5418971c566a444da1c7bf16e	The hereditary syndromes include multiple endocrine neoplasia types 1 (MEN 1) and 2A (MEN 2A), hereditary hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPTJT), familial isolated hyperparathyroidism (FIHP), @DISEASE$ (FHH) and neonatal severe hyperparathyroidism (NSHPT).	false
+57c61ddbf9cef99eec9dda47ff4317ed24350dab	They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw @PHENOTYPICFEATURE$ (HPT-JT) syndrome, familial isolated hyperparathyroidism, @DISEASE$ (FHH), and neonatal severe PHPT.	false
+4d7e0f493194df25ac0d34929c0dd2ecfe51c009	Contributing causes of sleep apnoea included @PHENOTYPICFEATURE$ (25 patients), tonsillar enlargement (3), acromegaly (3), rheumatoid cervical spondylosis (1), @DISEASE$ (1) and haemangioma of the throat (1).	false
+05917b32c747acc48404784170a3cba5395bf1a4	An 81-year-old male patient was admitted to the Saitama Medical School for treatment of gross hematuria, @PHENOTYPICFEATURE$ and hypercalcemia and diagnosed as having advanced @DISEASE$.	false
+ebbb861f9c607d754c21e77e6538f20e94a8afc3	Quadrimodal treatment of high-risk T1 and T2 @DISEASE$: transurethral tumor resection followed by concurrent radiochemotherapy and regional deep @PHENOTYPICFEATURE$.	false
+654c60a886b6dc0f94ce0591de3bde4e51722863	Our findings support an association between @DISEASE$ incidence and diabetes, and further suggest that the risk may be greater among patients taking oral @PHENOTYPICFEATURE$ and those with diabetes of longer duration.	false
+7120070f6e1657bce4adcd95e3429166891e6ab8	Less than one-third of adolescents (32.2%) knew that smoking causes vision loss/@PHENOTYPICFEATURE$ and 33.7% knew that smoking causes @DISEASE$.	false
+6c48b0b67cde2ed26794da502e04c1b5801656d1	In aggregate, these findings indicate that there are highly variable @PHENOTYPICFEATURE$ profiles and signalling pathway activation in TSC1-mutant @DISEASE$.	false
+ccfdc20984e816793befb28661979ee90cdfb552	The cohort included 115,727 new users of oral @PHENOTYPICFEATURE$ agents, with 470 patients diagnosed as having @DISEASE$ during follow-up (rate 89.4 per 100,000 person years).	false
+5993625ff1436654d16720c19e24187f828206b8	@PHENOTYPICFEATURE$ and radiotherapy in @DISEASE$.	false
+4c1c60dcc79f3c5a74218630ed7ba2dbe7d9488a	To assess the safety and effectiveness of treating high-risk T1 and T2 @DISEASE$ with transurethral resection (TUR-BT) followed by radiochemotherapy (RCT) combined with regional deep @PHENOTYPICFEATURE$ (RHT).	false
+59c9831c8ab1fcf3588d20122143cd21755ecb47	A patient with advanced @DISEASE$ treated with a combination of radiation and @PHENOTYPICFEATURE$, using short-wave radiofrequency (RF) and intravesical irrigation with warm water is reported.	false
+78b8cdb58053692e080a99c744e227bfeb052cec	@PHENOTYPICFEATURE$ and intravesical therapy: emerging one-two punch for @DISEASE$?	false
+fce55b6d89b7f1da3889f472c5942ae61abb780d	@DISEASE$ (FVS) is characterized by a number of abnormalities associated with VPA exposure in utero including neural tube defects, @PHENOTYPICFEATURE$, limb defects, genitourinary defects, brain, eye and respiratory anomalies, and abdominal wall defects.	false
+75443847c1f56016cedef49a8119265bac48148d	A case of @DISEASE$ associated with hypothyroidism and @PHENOTYPICFEATURE$.	false
+e8bcc2bc15327832cf5f0050414b283e591874cf	@DISEASE$ (DC) is occasionally complicated in patients with familial interstitial @PHENOTYPICFEATURE$ (FIP).	false
+7f31bd5a55cb3a591d4cb129f077ee1bb76ab00a	We report on an 11 year-old boy with @DISEASE$ who presented with dystrophic nails, @PHENOTYPICFEATURE$, hyperpigmentation and oral leukoplakia.	false
+c47360d1228ecb0f73c210d042ceee2a578fc565	Neurologic lesions included @PHENOTYPICFEATURE$, traumatic spinal cord injury, exstrophy/epispadias, neonatal meningitis, stroke, and spine @DISEASE$.	false
+c4438fc04ef4339f5c76d2d011c6958c3d01dbc9	Neurologic lesions included spina bifida, traumatic spinal cord injury, exstrophy/epispadias, neonatal @PHENOTYPICFEATURE$, stroke, and spine @DISEASE$.	false
+cd1bf65a03bd45f53b0f560e6720f8dbebed6dcb	These included 7 cases of rhabdomyosarcoma, 2 spindle cell sarcoma, 2 osteosarcoma, 1 leiomyosarcoma, 1 fibrosarcoma, and 1 @DISEASE$ @PHENOTYPICFEATURE$.	false
+e339e7ae98ec60329b65a24a5635e060ad3e8eb7	A comparison of children with @DISEASE$ and those with multiple seizure types without slow spike-wave complexes demonstrated that those with LGS were more likely to have MR, history of IS, and multiple disabilities (MR, cerebral palsy, @PHENOTYPICFEATURE$, hearing impairment).	false
+926717ff57762e92dc520e11c97abb65ce33d6e0	A comparison of children with LGS and those with multiple seizure types without slow spike-wave complexes demonstrated that those with @DISEASE$ were more likely to have MR, history of IS, and multiple disabilities (MR, cerebral palsy, @PHENOTYPICFEATURE$, hearing impairment).	false
+c6d278f5d6f22497f10a66d093eee7969ae5305e	It occurs in a variety of epileptic conditions (Primary generalized epilepsy, hypsarrhythmia, @DISEASE$, also known as "petit mal variant"), in inborn errors of metabolism (Tay-Sachs disease, forms of ceroid lipofuscinosis), in neurobiochemically still poorly understood forms of degenerative processes such as Essential hereditary myoclonus epilepsy (Lafora-Unverricht-Lundborg), in benign heredo-degenerative disorders (Hartung's syndrome), in CNS infections (SSPE, Jakob-Creutzfeldt disease), in metabolic encephalopathies (renal failure, @PHENOTYPICFEATURE$), in CNS poisoning, in acute cerebral anoxia and in post-anoxic states.	false
+6ede29b5ddefefb5e9d585cfd8fd4bdf2f787576	Use of an insulin pump with @DISEASE$ was associated with reduced nocturnal @PHENOTYPICFEATURE$ in those at greatest risk and was well accepted by patients.	false
+96ed294467a343dd5c804f8790a3c7cf2c138828	The second patient was ascertained as possible @DISEASE$, but KAT6B mutation testing was pursued clinically after the identification of the KAT6B mutation in Patient 1, and identified a de novo @PHENOTYPICFEATURE$, c.4205_4206delCT, p.(Ser1402Cysfs*5).	false
+470a5b50d0b2cba4a11287f8fb8d274dba35c7ba	The @DISEASE$ clinical spectrum includes intellectual disability (ID), @PHENOTYPICFEATURE$, microcephaly, facial dysmorphisms, exostoses.	false
+126185d81985f15448b7e3edaf572528e295c31e	The @DISEASE$ clinical spectrum includes intellectual disability (ID), short stature, microcephaly, @PHENOTYPICFEATURE$, exostoses.	false
+f1fd60a300670323311983e8c1cf87089d92e03c	Here, we report a patient with @DISEASE$ (LGS) who developed agranulocytosis associated with @PHENOTYPICFEATURE$ and skin rash with rufinamide.	false
+9737ab3053b42544d7bb5c1b89845f4d526e23ae	Here, we report a patient with Lennox-Gastaut syndrome (@DISEASE$) who developed agranulocytosis associated with @PHENOTYPICFEATURE$ and skin rash with rufinamide.	false
+24ce1929fb2969324d94a8eb9ca764151a3a1a42	The similarities between @DISEASE$ patients and progeroid mice reported here strongly suggest that defective cardiac repolarization and cardiomyocyte connectivity are important abnormalities in the HGPS pathogenesis that increase the risk of @PHENOTYPICFEATURE$ and premature death.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+deaba8c4aedeb155a64dba3643a9a1b4a976ed96	@PHENOTYPICFEATURE$ in fetuses with @DISEASE$: a radiographic post-mortem study.	false
+3a524ccbe1d87f4b60cb3258e1dfd12514a6daaf	People with @DISEASE$ (DS) are at high risk of developing early onset @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+667d68dfcb3b97d4df7fa63adc00efa55ce634ce	Lymphocyte concanavalin A capping: a similarity between @DISEASE$ and early onset primary degenerative @PHENOTYPICFEATURE$.	false
+8d66233142980723fefd70f23779a60ee48617d3	@DISEASE$-like @PHENOTYPICFEATURE$ in Ets2 transgenic mice.	false
+fbc3d0bdb80ab74ee47650e825e401db4d4c6ec3	Prevalence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ecd3f09d9f1008d146f8fe693a9336b0ad172598	Correlation between physical anomaly and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+472ac5b2ca4746e3ef9aea70e6b6b9fe5b6620c3	@DISEASE$, @PHENOTYPICFEATURE$ and hematological anomaly were the most common co-anomalies.	false
+8fc58405605dbaeaf6670a4546be89caf23b76b2	It is strongly associated with diabetes, @PHENOTYPICFEATURE$, and @DISEASE$ status.	false
+2a546b5587363ace38451aff5a67da763929eec6	@DISEASE$ or @PHENOTYPICFEATURE$.	false
+e57a01b8a39c1bf2a78f05a618b305706ff85459	She also had @PHENOTYPICFEATURE$, hypocalciuria, and hyperreninemic @DISEASE$.	false
+70cc45e013f957c64bb55f391940efb24a76cf82	He exhibited hypokalemia, @PHENOTYPICFEATURE$, hypocalciuria, metabolic alkalosis and hyperreninemic @DISEASE$.	false
+0087b680e21f4784879f105a3bb52ec63a3e988c	Chronic hypokalaemia with @PHENOTYPICFEATURE$, normotensive hyperrenin-@DISEASE$ ("Bartter's syndrome"), and hypercalciuria.	false
+a41c6d097c60cb0633353398bc8606325670bb93	The diagnosis was established by the typical biochemical pictures including renal wasting hypokalemia, @PHENOTYPICFEATURE$, hypocalciuria, metabolic alkalosis, and hyperreninemic @DISEASE$.	false
+06ecad1c78d462052afcbcc6dea71fd7fde41cf7	It is classically associated with hypokalemia, @PHENOTYPICFEATURE$, hypocalciuria, hyperreninemia, and @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+df3c2cbc056fc087af70f6f01bfcb81f6d627979	@DISEASE$ patient who exhibited @PHENOTYPICFEATURE$.	false
+b129e349258902219f32755b3129695916c7c7e0	He showed hypocalcemia in addition to hypokalemia, severe @PHENOTYPICFEATURE$, hypocalciuria and hyperreninemic @DISEASE$ with normal blood pressure.	false
+1666f2843325636a3685d187e360f9317c79f6fd	In a single patient with @PHENOTYPICFEATURE$, whole-exome sequencing revealed MAN1B1 as @DISEASE$ candidate gene.	false
+5c8dc4cd2efa3f39994e1fbe41f2d0655341f128	Pretransplant evaluation of the donors may include an angiography to evaluate the renal arteries, and failure to recognize renal @PHENOTYPICFEATURE$, particularly @DISEASE$, by noninvasive methods may eventually lead to hypertension and ischemic renal failure.	false
+429b375bcddbd2198ad3bd04ce67a7be28c61392	Nine of 10 patients with @DISEASE$ were cured and 3 of 4 with renal transplant @PHENOTYPICFEATURE$ were cured or improved.	false
+55bf32531b1a3dcdb920d470944de1da4c7402b4	The indications for right LDN (n = 29) included multiple left renal vessels (n = 18), early branching of the left renal artery (n = 1), left renal vein anomaly (n = 2), right renal arterial @DISEASE$ (n = 2), right @PHENOTYPICFEATURE$ (n = 3), mild right hydronephrosis with delay on renal scan (n = 1), or right nephrolithiasis (n = 2).	false
+fa76f6b7314c1fe995f0557ff7d67b5074f1ffa7	The pathological renal and renovascular findings included critical atherosclerotic renal artery stenosis in four patients (2%), non critical (angiographically < 60%) stenosis in 22 patients (12%), double arterial supply on one side in 26 patients (14%), on both sides in seven patients (4%), @DISEASE$ in two patients (1%) and large @PHENOTYPICFEATURE$, renal artery aneurysm and aberrant blood supply of an ectopic pelvic kidney in one patient (0.5%).	false
+987b4f61e82e5ad55010124b3f85e170bf77c266	SCAD patients comprise a @PHENOTYPICFEATURE$ group, in which it is estimated that a quarter to one third have underlying @DISEASE$ (FMD).	false
+3b0bdd8c037f212f71c80aa17904cd0e7e0eeb39	The cause of renovascular hypertension, as determined with angiography, was atherosclerosis in 37 patients, @DISEASE$ in 27, and mixed disease in one; 28 patients had renal transplant @PHENOTYPICFEATURE$.	false
+2aefd0e389341931c2d76f2a25912763d4d1a9bf	This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to @DISEASE$ presenting with @PHENOTYPICFEATURE$, headache and visual disturbance.	false
+722d9c3e9ceb01d2643947a6feb14cd8573a0faf	@DISEASE$ is a @PHENOTYPICFEATURE$ group of systemic, noninflammatory, and nonatherosclerotic diseases of the vascular wall.	false
+8a38ee26ccc1f2346c4a40dcfd1f4b8ca17763be	We describe the case of a fourteen-year old girl with hypertension, in whom renal @PHENOTYPICFEATURE$ was identified by Doppler ultrasound examination, with subsequent demonstration of typical features of @DISEASE$ by selective renal arteriography.	false
+97f7d90c538718f03a9b96198a56828e6a228a70	To describe a characteristic paroxysmal eye-head @PHENOTYPICFEATURE$ that occurs in infants with @DISEASE$ (Glut1 DS).	false
+514fd2e0a3e44f34d705ac042a3feee2483318ae	We conclude that @DISEASE$ is a chronic condition, dominated by epilepsy in infancy and by @PHENOTYPICFEATURE$ thereafter.	false
+e9ab078e632f9bd2096ca32cd3eec8a6b3637211	GLUT1 deficiency syndrome (@DISEASE$) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, @PHENOTYPICFEATURE$, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting.	false
+40f6deaa91f76702d0c70eaf8315e5b9ee330851	@DISEASE$ (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, @PHENOTYPICFEATURE$, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting.	false
+98406aef838d486193879b21ebd32a710de4eb94	Paroxysmal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a72a0bf8930f239ee8fe27167ed5056ace6b3911	Treatment of these disorders involves the avoidance of fasting, dietary treatment eliminating specific carbohydrates, and enzyme replacement therapy in individual glycogen storage diseases.@DISEASE$, a specific disorder of glucose transport into brain, results in global developmental delay, early-onset epilepsy, and a complex @PHENOTYPICFEATURE$.	false
+47e1fe65b24dc08740bc3b68e3a0731e73c8f4f2	@DISEASE$ is a treatable neurological disorder characterized by developmental delay, @PHENOTYPICFEATURE$ and epilepsy.	false
+9843bf1c265f6289935151b8332de3b3e6a5c841	@DISEASE$ as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex @PHENOTYPICFEATURE$.	false
+a7aac82113a186d36acc16c58ab55b2c8eeaa6b7	Recognizing @DISEASE$ is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the @PHENOTYPICFEATURE$.	false
+97b2711af8dcf77f027d42b330b4de9e6378c392	[Exercise and fasting induced @PHENOTYPICFEATURE$ in children: think of the @DISEASE$].	false
+56bb667dc722bc43f85865515d55de0fc629bad3	Brain energetic failure has been implicated in neurological conditions such as @PHENOTYPICFEATURE$ disorder and epilepsy, as well as in metabolic diseases with severe neurodevelopmental complications such as @DISEASE$.	false
+d7867f006c2e5141aa0dc03829ac59fd63b75e15	@DISEASE$, post-infectious glomerulonephritis and minimal lesion @PHENOTYPICFEATURE$ were all relatively commoner among the New Caledonian biopsies, but the numbers were small.	false
+9b2b2544997290e72698f7681785762c9d0ab7e6	Nocardial cerebral abscess associated with mycetoma, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0ca1c1d396bc79a7add9a050b4f2e06de7891177	Some had disorders that may benefit from early treatment (@DISEASE$, obstructive uropathy, urolithiasis), or counselling (hereditary nephropathy, @PHENOTYPICFEATURE$ disease).	false
+e6874f67be80f792709f8228865615bfb308671f	Using IF-P, diagnostic findings were obtained in 100% of cases of lupus nephritis, acute post-infectious glomerulonephritis, cryoglobulinemic glomerulonephritis, fibrillary glomerulonephritis, primary amyloidosis, myeloma cast @PHENOTYPICFEATURE$, and light-chain Fanconi syndrome (LCFS), 88% of cases of immunoglobulin (Ig)A nephropathy, 80% of cases of light-chain deposition disease, 60% of cases of @DISEASE$ type 1, 50% of cases of idiopathic membranous glomerulopathy (MGN) and 20% of cases of anti-glomerular basement membrane (GBM) disease.	false
+a04160691ffa3438a8f2c32d41c8d458e50796ee	In addition, these mutant mice exhibit a granulocytosis and lymphocytosis, @PHENOTYPICFEATURE$, elevated serum immunoglobulins, @DISEASE$, and decreased lifespan--abnormalities that are less clearly attributable to a spectrin defect.	false
+3f012b5003fb3031e5cd6258a9d4e041bb93b316	Immunoglobulin A (IgA) nephropathy (n=27, 54%), membranous nephropathy (n=8, 16%), @DISEASE$ (n=8, 16%), and systemic lupus erithematosus @PHENOTYPICFEATURE$ cases (n=7, 14%) were evaluated by semiquantitative scores (SS) for IgG, IgA, IgM, C3, C1q, ?, and ?.	false
+0eacc92593f191ac5db754b9a370db878d293206	Bilateral interstitial @PHENOTYPICFEATURE$ is a rare manifestation of @DISEASE$ which, along with the anterior stromal keratitis, responded well to topical prednisolone sodium phosphate 0.5%.	false
+165d173bfc02fab13e594ce8714e7d8aa8f72e59	Inflammatory and reactive arthropathies are more prevalent in HIV-positive individuals, and a separate section is dedicated to these conditions, including @DISEASE$, psoriatic arthritis, HIV-associated arthritis, @PHENOTYPICFEATURE$ articular syndrome, and acute symmetric polyarthritis.	false
+06b007c00bdedc283f25bca37e535abbc8c9767b	Keywords used for the search included MeSH terms: laser in situ keratomileusis, LASIK, refractive surgery, ocular surgery, and @PHENOTYPICFEATURE$ surgery connected by "and" with the following MeSH and natural-language terms: collagen vascular disease, rheumatic disease, systemic disease, rheumatoid arthritis, systemic lupus erythematosus, Sj?gren's syndrome, seronegative spondyloarthropathy, HLA B27, ankylosing spondylitis, @DISEASE$, psoriatic arthritis.	false
+3a9694260033d2c90d3c7b676a3572d1e1554509	Bilateral interstitial @PHENOTYPICFEATURE$ with anterior stromal infiltrates associated with @DISEASE$.	false
+f6c08e898d47070e24160e3c1fda347493c6185a	We examined the 1-week test-retest reliability of regional electroencephalogram (EEG) alpha asymmetry and power, respiratory sinus @PHENOTYPICFEATURE$ (RSA), heart period, and heart period variability measures at rest and during anticipation of an impromptu speech in 26 adults diagnosed with social anxiety disorder (@DISEASE$).	false
+62071a8f6d764d779c58b118de81ae2bebfb4cf7	Botulinum toxin is effective in reducing @PHENOTYPICFEATURE$ disability and limitations in everyday activities when given in association with paroxetine to subjects with @DISEASE$.	false
+86e411317017d0e28d957c9cc23c042813e57599	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin.	false
+26060eaefa9bd78a25c32cb65538a1869f564602	EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, @DISEASE$, diaphyseal dysplasia-Engelmann type, @PHENOTYPICFEATURE$-Pyle type, Melnick-Needles osteodysplasty, and otopalatodigital syndrome type I.	false
+f8a9b22b732c616a5ecffc14d84e0e052bc75eac	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and @DISEASE$.	false
+67d9d07c73efe9107f6c7131e1d1ea75a8332353	Differentiation from other sclerosing bone dysplasias, including @PHENOTYPICFEATURE$ (Pyle's disease), @DISEASE$, and diaphyseal dysplasia is based largely on characteristic radiographic findings.	false
+02c4a8254270b15f1f03773bace13130e8a84140	A 51-year-old woman, who had both aortitis syndrome (Takayasu arteritis) and @DISEASE$, presented with hypertension, @PHENOTYPICFEATURE$, a high erythrocyte sedimentation rate, high C-reactive protein and serum IgG levels, proteinuria, and renal dysfunction.	false
+689c48f011eea609f1d13dbaedbb19d8a021c0de	In VLDL from patients with @DISEASE$ or type V @PHENOTYPICFEATURE$, the LP-A-II:B complex accounted for 70-90% and 25-70% of the total apoB content, respectively.	false
+708193c36477492e657898c94552ed5da8a112ff	Isolation and characterization of an apoA-II-containing lipoprotein (LP-A-II:B complex) from plasma very low density lipoproteins of patients with @DISEASE$ and type V @PHENOTYPICFEATURE$.	false
+8db9a614329a70aeae120f3c8c60220e10c4b4e4	Patients with @DISEASE$ display a variety of dysmorphic features and neurological manifestations, including microcephaly, mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+875174275b6a008c018d51326cfe7a8734147388	We performed removal of the @PHENOTYPICFEATURE$ combined with @DISEASE$ resection as Simpson grade II.	false
+1f0ad8dbc1c6798d9952c5ef0cf944028aa7ee0b	In multivariate analysis, independent prognostic factors for improved @DISEASE$ were non-metastatic disease at diagnosis, age under 40, extremity @PHENOTYPICFEATURE$, small tumours and treatment from 1995 onwards.	false
+6abbc5fedb375778b2e2575800656d00b250ac6b	In multivariate analysis, independent prognostic factors for improved @DISEASE$ were non-metastatic disease at diagnosis, age under 40, extremity tumours, small @PHENOTYPICFEATURE$ and treatment from 1995 onwards.	false
+c088f84018d513babb49fe8ef10b88565911e650	Diameter of bridging veins in posterior 1/3 superior sagittal sinus (@DISEASE$) in @PHENOTYPICFEATURE$ group was significantly smaller than that of the control group (P < 0.05).	false
+eb9c122d59f323018452426bd6e32f6eeaec9718	Elevated serum creatinine levels were significantly associated with an impaired sarcoma-specific survival (@DISEASE$) adjusted for @PHENOTYPICFEATURE$ stage (subdistribution hazard ratio (SHR) per 1?mg/dl increase: 3.27; 95%CI: 1.87-5.73;	false
+212298b924aa97fc77bfeecf830b5ad0cf1f3ee0	Sweet's syndrome can be classified into three types: (1) association with hematologic disorders (HSS); (2) association with solid @PHENOTYPICFEATURE$ (@DISEASE$); and (3) idiopathic or associated with various other disorders (ISS).	false
+18e0d1bed4216d8c340f7b64a1a897001a960f38	If the @PHENOTYPICFEATURE$ is large and the sinus is patent, we recommend gross total resection with no removal of @DISEASE$.	false
+caa5e813088d81a1531deaaa28d9fe03af0a50ad	The hypothesis tested in this study was that a reduction in venous compliance in the territory drained by the superior sagittal sinus (@DISEASE$) is associated with NPH and @PHENOTYPICFEATURE$.	false
+353000082937ba8c3aa0cbae7a94390af693b20e	We report a rare case of intravascular lymphomatosis with massive @PHENOTYPICFEATURE$ in the superior sagittal sinus (@DISEASE$), which caused sinus thrombosis.	false
+6de0e686e033b9c85b9f09cdf26d52b339adab66	Two cases are described in which raised intracranial pressure occurred as a result of superior sagittal sinus (@DISEASE$) occlusion by an occipital skull @PHENOTYPICFEATURE$.	false
+e3fe547453926822f9f3371dc47e3657786a6222	Selective seritonin reuptake inhibitors (SSRIs) are widely used antidepressants that are often safer than alternatives, but may produce a variety of cutaneous reactions including spontaneous bruising, pruritus, urticaria, angioedema, erythema multiforme, @DISEASE$, toxic epidermal necrolysis, erythema nodosum, alopecia, @PHENOTYPICFEATURE$, leukocytoclastic vasculitis, and an acneiform eruption.	false
+63afc80cce637c9ff439c64f89f0715aba56b93f	@DISEASE$ and Mycoplasma pneumoniae: evidence for @PHENOTYPICFEATURE$.	false
+69f5c9dd2b6a08e615fd9014c517273b5725d664	Adverse skin effects are very common and include nonspecific manifestations such as @PHENOTYPICFEATURE$ and maculopapular rashes or eruptions of diverse types (lichenoid or psoriasiform lesions, acute generalized exanthematic pustulosis, @DISEASE$, and more).	false
+a7272b5535156cfef30bf4ea63ada4b7f31c785c	The existence of a systematic @PHENOTYPICFEATURE$ comprising typical target lesions and mucosal lesions in the oral and genital areas suggested to us a diagnosis of @DISEASE$.	false
+78a50b34d5099eea0788a2f7b510bf2265af4195	The most frequent adverse events associated with minoxidil include @PHENOTYPICFEATURE$ and cardiovascular events related to its powerful antihypertensive effect, and less frequently, rashes, bullous eruptions, and @DISEASE$ (SJS).	false
+bf50f6fdec7af23cc6520e19c1bbe1dec0c553bd	HIV-infected patients just at the beginning of antiretroviral treatment can frequently show a wide variety of adverse drug effects such as drug rashes, hyperpigmentation, @PHENOTYPICFEATURE$, hypersensitivity reactions, injection site reaction, urticarial reaction, erythema multiforme, toxic epidermal necrolysis or @DISEASE$.	false
+85ca80a09560af143b3429c9c1aa0c5427a0b3df	Primary dermatological conditions (n=33) included 21 patients with @PHENOTYPICFEATURE$, 3 with angioedema, 2 each with pemphigus, toxic epidermal necrolysis and psoriasis, and 1 each with @DISEASE$, drug hypersensitivity syndrome and crusted scabies.	false
+24bf7221c5903d79929866902a9b689b461ddaca	After surgery, she developed @DISEASE$ with general skin lesions, erythema nodosa, genital mucosa erosion, oral ulcers, gastritis, and conjunctiva @PHENOTYPICFEATURE$.	false
+f4fd937ff3059e12e96a735146b9966f8465971f	Poland complex (12 cases), isolated @DISEASE$ (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, @PHENOTYPICFEATURE$ type, and sex ratio.	false
+ce984b214a4b6dbd4caba48e00c40988d61f8379	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; @DISEASE$: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+e1cfa790bc678017277c8a23b743d69b6637e33d	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: @DISEASE$; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+08b0881a08753934ddc1ad4129ebf1a2796be7fe	In 12 (1/49,925) of the 27 @DISEASE$ cases hypoplasia and/or @PHENOTYPICFEATURE$ of the ipsilateral hand was also diagnosed.	false
+b43068c24fc55f494cd662a3bd0463a3dfd473e7	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, @DISEASE$, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+e4cf227cba9b198068a2c5ecf1dab6872c2918a6	We hypothesize that @PHENOTYPICFEATURE$, mediated by increased insertion of PLP into mitochondria, underlies demyelination in @DISEASE$ (PMD) and in models of PMD.	false
+676d779d5a40687ca0f512be9bc27d3ce92fcc60	We hypothesize that @PHENOTYPICFEATURE$, mediated by increased insertion of PLP into mitochondria, underlies demyelination in Pelizaeus-Merzbacher Disease (PMD) and in models of @DISEASE$.	false
+67ac31804be2f234acab918b7d35a1c784bde2e4	We hypothesize that @PHENOTYPICFEATURE$, mediated by increased insertion of PLP into mitochondria, underlies demyelination in Pelizaeus-Merzbacher Disease (@DISEASE$) and in models of PMD.	false
+a447b218417b3b9ca52706d016e74d800d68e918	This report of pseudo-@DISEASE$ with CD56(-) LGL leukemia, presenting with a leg ulcer and telangiectasia, enhances the role of dermatology in the diagnosis of hematologic @PHENOTYPICFEATURE$.	false
+21d7c79e56b51d5ad2b4d0bd6911d06d17eb97f8	@DISEASE$ syndrome (DCMA) is a rare mitochondrial condition associated with early onset @PHENOTYPICFEATURE$ and non-progressive ataxia.	false
+34c7d73a534129ea34c1d92e0dfcb2a76347ba1b	@DISEASE$ is characterized by recurrent episodes of @PHENOTYPICFEATURE$.	false
+199da153ee824ccd7f070939a7ca059d72324d60	@DISEASE$ is a clinical entity of unknown etiology which presents with periodic episodes of @PHENOTYPICFEATURE$, aphthous stomatitis, tonsillitis or pharyngitis, and cervical adenitis.	false
+4e91121a038da1324dfd94f1cb14691f4aa66943	@DISEASE$ is characterized by periodic episodes of high @PHENOTYPICFEATURE$, aphthous stomatitis, pharyngitis, and/or cervical adenitis.	false
+004c95178f1b9ecc742ad707932ee15b33e8efa9	@DISEASE$ is a chronic disease that is characterized by recurrent episodes of high @PHENOTYPICFEATURE$, aphthous stomatitis, pharyngitis, and cervical adenitis.	false
+f82244306d6d16c596e5826d43b4a3cb94ecb1d1	Periodic fever, aphthous stomatitis, pharyngotonsillitis, cervical adenopathy (@DISEASE$) syndrome, which is characterized by periodic episodes of high @PHENOTYPICFEATURE$, aphthous stomatitis, pharyngitis, and cervical adenitis, is of unknown etiology and manifests usually before 5 years of age.	false
+682c6bc985ed412bbf06187eb7670535bbcf11d5	In children with recurrent episodes of @PHENOTYPICFEATURE$, the cause may be the periodic fever syndrome (@DISEASE$).	false
+e7600bccb3746c49eb425f885fce83c8b06f7f87	Mediterranean @PHENOTYPICFEATURE$ gene variants and colchicine therapy in @DISEASE$ in a Mediterranean region.	false
+f24e3778ec72ca2ab41d912ada04c3e6db1d669b	@DISEASE$ represents the most common cause of recurrent fever in children in European populations, and it is characterized by recurrent episodes of high @PHENOTYPICFEATURE$, pharyngitis, cervical adenitis, and aphthous stomatitis.	false
+52abcf5af4afcc4caa5fd9fa88d16b48b74298fc	Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (@DISEASE$) syndrome is a complex autoinflammatory disease with a clinical phenotype characterised by recurrent episodes of @PHENOTYPICFEATURE$, systemic inflammation and symptoms and signs depicted in disease acronym.	false
+8bbb57bea905e539c0beb60f6619efb4779f4481	Periodic episodes of high @PHENOTYPICFEATURE$, pharyngitis and cervical adenitis with a bad response to the conventional treatment should alert us to the @DISEASE$.	false
+5763be290010897ec4bdcbeb39f41a5c78589c5c	The @DISEASE$ (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as cortical blindness, spasticity, dementia and @PHENOTYPICFEATURE$.	false
+0a0cdbbb27b08ce3cf66a959cd216b0d588f2993	The @DISEASE$ (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, @PHENOTYPICFEATURE$ and blindness, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+a2edd5c07b9903293ba0e83afc7754d3bfde475f	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with @PHENOTYPICFEATURE$, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+5cf83e9f2a6d1314d4face34899aaa80ad42c1e3	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal @PHENOTYPICFEATURE$, mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+8731a65204c7a0149095db2a22e5b39987b6d30f	Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo-neuro-gastro-intestinal encephalopathy, mitochondrial recessive ataxia syndrome, spinocerebellar @PHENOTYPICFEATURE$ with encephalopathy, @DISEASE$, leuko-encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram syndrome, Wolf-Hirschhorn syndrome and Leigh syndrome.	false
+842e6cc2a9a4f4bef0ac6b5e357921f47dfaa146	Mutations in this gene have recently been shown to underlie the @DISEASE$, which is characterized by sensorineural deafness, dystonia, and @PHENOTYPICFEATURE$.	false
+234239a872d21abdddd904e1f2d0c53ae63c5ffd	This survey reports such an analysis for 15 missense mutations, one insertion and three deletions involved in Leber's hereditary optic neuropathy, Leigh syndrome, mitochondrial neurogastrointestinal encephalomyopathy, @DISEASE$, iron-storage disorders related to Friedreich's @PHENOTYPICFEATURE$, and hereditary spastic paraplegia.	false
+5c2224506f06a753ca42c992498d4f5735fe7ba3	Congenital muscular dystrophy associated with calf hypertrophy, @PHENOTYPICFEATURE$ and severe mental retardation in three Italian families: evidence for a novel @DISEASE$ syndrome.	false
+1f10cfcdef6233ad9f8f763caaffb4cb19feb8f7	The pathological results showed that myocardial fiber arrangement and myocardial interstitial @PHENOTYPICFEATURE$ phenomenon were obviously improved in high dose of LXD group and @DISEASE$ decreased.	false
+921bcfedbbf6992b541691355c6fa0525d2c1157	In addition, we report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by @DISEASE$ with calf hypertrophy, @PHENOTYPICFEATURE$, and mental retardation.	false
+1a3093fd05b4c43427cc73f6f8b65e19d4e0fe8a	We recently described a novel congenital muscular dystrophy (@DISEASE$) syndrome characterized by mental retardation, @PHENOTYPICFEATURE$, and partial merosin deficiency on muscle biopsy.	false
+8274456ad67a36ee21f288dcc798a621d5563bb6	We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (@DISEASE$), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for @PHENOTYPICFEATURE$ and slight mental retardation (MR).	false
+df396c918d0deb6819e44e7f853ae9fd0e5d0cbd	Congenital myotonic dystrophy (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ myopathica, feeding and respiratory problems, skeletal deformities and polyhydramniosis.	false
+17402f2290a4ffe95d0ec4f9a5bb6ff9a0360333	We analyzed POMT2 in six @DISEASE$ patients, who had severe diffuse muscle weakness, generalized joint contractures, @PHENOTYPICFEATURE$, severe mental retardation and elevated CK levels.	false
+5d2d6bdf416f9e2e51054b757b735641ff69b284	Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with @DISEASE$ associated with @PHENOTYPICFEATURE$, and severe mental retardation with or without ocular involvement.	false
+0c565b825de8f16b28b0dedcea546b6824e3a9ad	Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (@DISEASE$) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with @PHENOTYPICFEATURE$ and mental retardation, to mild LGMD.	false
+d9255771e5ad788b7f536069f4d84e23ccd117ad	[Symptoms of acute cerebral hernia following induction of anesthesia in @PHENOTYPICFEATURE$--@DISEASE$ in reality].	false
+fd1ab38ca3cced0890bc63fa89a8db854664f1c3	Defects in RyR1 cause @DISEASE$ and a spectrum of myopathies in skeletal muscle; whereas RyR2 dysregulation can result in fatal cardiac arrhythmias and is involved in @PHENOTYPICFEATURE$.	false
+0d44b477be64827b2bcbea83edc84d92e0aa8356	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, episodic ataxia type 2, familial @PHENOTYPICFEATURE$ periodic paralysis, congenital myotonia, @DISEASE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+411afa08006baf251579bef51f6ad1f54f17845d	We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, @DISEASE$, hypogonadotropic hypogonadism, @PHENOTYPICFEATURE$, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.	false
+2f29306ffc1c5ae0721748dfee2e97e72b120c6c	What do epilepsy, migraine headache, @PHENOTYPICFEATURE$, episodic ataxia, periodic paralysis, @DISEASE$, and generalized myotonia have in common?	false
+2ccbd055723e246b794b6f9c0f58161dabf86db2	Conditions as different as @PHENOTYPICFEATURE$, myasthenia gravis, @DISEASE$, and skeletal muscle fatigue, may be examples of deteriorated control or function of the RyR.	false
+467a8d8fe0f067d15ef65d6db03111cd49561b93	Overall inter-rater agreement for total checklist, @DISEASE$, hyperkalemia and @PHENOTYPICFEATURE$ was 98.9%, 97.8%, 99.5% and 99.5% respectively with similar Kappa coefficient.	false
+f3bc524b327a6719928b133378434f121079b154	epilepsy, migraine, deafness, ataxia and startle disease), skeletal muscle (myotonia, @DISEASE$, periodic paralysis and myasthenia) and cardiac muscle (long QT syndrome and @PHENOTYPICFEATURE$). 5.	false
+23c70d0d5557424baf6729e774ea0e7ced889c24	epilepsy, migraine, @PHENOTYPICFEATURE$, ataxia and startle disease), skeletal muscle (myotonia, @DISEASE$, periodic paralysis and myasthenia) and cardiac muscle (long QT syndrome and ventricular fibrillation). 5.	false
+c42341720e6eda124ee3c3ffe34137cd4f7b72ae	Determination of halothane gene mutation associated with @DISEASE$ in sows dead of @PHENOTYPICFEATURE$.	false
+99420b33b5b7447bef94b59f6754278c6725f9c7	Genetic variation also contributes to the diversity and incidence of diseases and conditions such as sepsis, @DISEASE$, drug-induced hypersensitivity reactions, cardiac channelopathies, thromboembolic disease, and @PHENOTYPICFEATURE$.	false
+66aa89c1bb2f189973da73ae53ee35b1dfea9960	Gene mutations in desmosomal components cause striate keratoderma, @DISEASE$, epidermolytic palmoplantar keratoderma and plakophilin deficiency, which first show skin fragility and blisters and later @PHENOTYPICFEATURE$.	false
+a8a3f2127af4e49d8e7857e8cb44313051da1def	All other mutations identified to date have been detected in genes encoding desmosomal proteins: plakoglobin (JUP) which causes @DISEASE$ (a recessive form of ARVC associated with @PHENOTYPICFEATURE$ and woolly hair); desmoplakin (DSP) which causes the autosomal dominant ARVD8 and plakophilin-2 (PKP2) involved in ARVD9.	false
+108a483f1097206326d1a75139312877afae24e1	Furthermore, plakoglobin has been identified as the first gene responsible for the recessive variant of ARVC/D associated with @PHENOTYPICFEATURE$ and woolly hair (@DISEASE$).	false
+2469289af2affb29755801b32ee4ad4c96399514	More than one fifth of the children with ovarian mature teratoma @DISEASE$ metachronous benign @PHENOTYPICFEATURE$ to the contralateral ovary.	false
+5eb58fc8dbac575d854d956e97811324b21842c5	Prenatal diagnosis of eight pregnancies with keratin gene mutations, at risk for @DISEASE$ either because one of the parents was affected (three cases) or history of a previously affected child as a result of a de novo @PHENOTYPICFEATURE$ (five cases), predicted two fetuses being affected and six being normal.	false
+13df6710c504b45e0e533f3fb5828f8cb85709bb	We described a family with @DISEASE$-WC caused by a novel autosomal dominant @PHENOTYPICFEATURE$ (G476D) in the keratin 5 gene.	false
+92859c2e6e8f283089f15eba2ccca5e6ea6288cc	This observation suggests an additional effect of a recessively inherited mutation modulating the phenotypic expression of @DISEASE$ caused by a partially dominant @PHENOTYPICFEATURE$ and is important for accurate genetic counseling.	false
+28255b46a6416a18d91122d774fa565bcb1e8731	Diabetes mellitus in ataxia-telangiectasia, @DISEASE$, xeroderma pigmentosum, common variable @PHENOTYPICFEATURE$, and severe combined immune deficiency families.	false
+3f33a32f0dfeaaf0c8cbf351bb57a0fdce45e888	This study investigated the oral health status of 15 children with @DISEASE$, including oral lesions, gingival and periodontal status, and @PHENOTYPICFEATURE$.	false
+2b8725deb3244ab860e8ebe38370d5729aa10a8c	@DISEASE$, medulloblastoma, Wilms' tumor, horseshoe kidney, and @PHENOTYPICFEATURE$.	false
+1a38eff5a5568c17919dd17e999263346a3902eb	Although cardiomyopathy is commonly associated with other childhood myopathies, to our knowledge, this is the youngest patient reported with @DISEASE$ presenting with @PHENOTYPICFEATURE$ caused by cardiomyopathy, and the first patient to successfully undergo cardiac transplantation.	false
+aeb96da236815319abcdb75696dd6e29023a51ac	@DISEASE$ has been extremely rarely associated with cardiomyopathy, which can lead to @PHENOTYPICFEATURE$ and premature death.	false
+92c8def7624f65d7e4e225a6b293a6aace374409	Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+49296212bd06610f8f9ae5da1f3569200039c8e0	To determine if alteration in TP63 is responsible for a Chinese patient with ectrodactyly-ectodermal dysplasia clefting (@DISEASE$) syndrome, but without @PHENOTYPICFEATURE$/lip.	false
+db9803eb15f87db9bb7a6fa5d43aaa8569305cca	Ectrodactyly, Ectodermal dysplasia, and Cleft lip-@PHENOTYPICFEATURE$ (@DISEASE$) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components.	false
+c74cd8a25d326f46386883ae1d8bc24c9c92cfe3	were associated with poorer overall survival in low-grade @DISEASE$ @PHENOTYPICFEATURE$.	false
+beda2c067dd1293f38ac692e95fcc334d07dab0b	Unraveling the molecular events associated with the initiation of @PHENOTYPICFEATURE$ invasion would represent an obvious improvement for @DISEASE$ patients.	false
+62201bf84bda345f5dad09bf22f0412431fe0f17	C133+ @PHENOTYPICFEATURE$ predicted favorable OS and PFS of @DISEASE$ patients, with a Hazard Ratio 4.731 (95% CI, 1.251-17.89;	false
+efaf5af21dd2dcd7a6484cc3c4ebc559064a3dea	We performed a qRT-PCR assay with miR-21 and PTEN in 16 paired @DISEASE$ @PHENOTYPICFEATURE$ tissues and adjacent non-tumor endometrium.	false
+c4421b14abff97a72dd6654140aad3474a0815e1	Ectrodactyly, ectodermal dysplasia, and @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+d86319395e06408bc132b6b13e0003ca4407fb03	A male child with clinical features consistent with @DISEASE$/EECUT plus syndrome (ectrodactyly, ectodermal dysplasia, clefting, @PHENOTYPICFEATURE$, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis, and T cell lymphopenia is reported.	false
+414ce2da02d2221a5bc1d5f599de6b41e6330097	A male child with clinical features consistent with @DISEASE$/EECUT plus syndrome (ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities, and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, @PHENOTYPICFEATURE$, bilateral hydronephrosis, and T cell lymphopenia is reported.	false
+b7c1938a1bc55f327713b35745ffb9d975e80665	Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+80ffd34b63603a31c19d3675108a450c54e9c4bc	Prevalence of @DISEASE$: A survey of essential tremor patients with @PHENOTYPICFEATURE$ or extrapyramidal signs.	false
+f6f303fbf0b2b11d0353faaa2b5de2653c24da90	@DISEASE$ is characterized by cerebellar @PHENOTYPICFEATURE$ and ataxia, and the presence of ubiquitin-positive inclusions in neurons and astrocytes.	false
+e62b65f2bebd56954040f74bf0c9e4c17f42e135	Some patients with @DISEASE$ develop @PHENOTYPICFEATURE$ in the transverse plane, that is, out-toeing or in-toeing.	false
+dc7872a6f387931612fd37c47e17edf2b58326c0	The results were less consistent in patients with myelodysplasia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d8da8e0a1547270c054b25f89d7d36fe8c9f9879	Unknown syndrome: @PHENOTYPICFEATURE$ with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and @DISEASE$ of the hip.	false
+012bb2923eb1201aed3a75cd872c3d18d0e0d6cc	Both patients had facial asymmetry and the young man had facial dysmorphism, @PHENOTYPICFEATURE$ with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left @DISEASE$ (LCPD) [LCPD-like presentation].	false
+7ae84141669287dbf1dac3fe27fad0034c643164	We report a six year old male with mental retardation, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin @PHENOTYPICFEATURE$, and @DISEASE$ of the hip.	false
+990c6b81922de48ea0a2c2c06095c2a558313096	We report a six year old male with mental retardation, postaxial polydactyly and @PHENOTYPICFEATURE$, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and @DISEASE$ of the hip.	false
+22aefdc05dae24c97418982283d64fe4303b09dd	We report a six year old male with @PHENOTYPICFEATURE$, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and @DISEASE$ of the hip.	false
+6bca965397505a03cf128c5b680f6d9351323d28	We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (@DISEASE$) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual disability @PHENOTYPICFEATURE$, microcephaly, and growth retardation.	false
+eb17daf06296b47a004d48df65286ff13fca5240	@DISEASE$ (DSS) is an early onset demyelinating motor and @PHENOTYPICFEATURE$ with motor nerve conduction velocities below 12 m s(-1).	false
+16bc29b5d2602e2eac21516e6c0a3eefc87d46f1	@DISEASE$: CT--staging of @PHENOTYPICFEATURE$ infiltration.	false
+05c1dfd735d3d77383607f80ec6765702368b96e	[@DISEASE$ radiographic image resulting from a benign @PHENOTYPICFEATURE$].	false
+ca491751594724546be2d2bcbfe36f106df95b64	Adenosquamous @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+64d2272f42733a6df6f8f32a521a16d6f24ca89e	Disappearance of local @PHENOTYPICFEATURE$ of @DISEASE$ after irradiation.	false
+afdce4cc21b3151098f49d05f189847c20ada9cd	[Neovascularization around @PHENOTYPICFEATURE$ in @DISEASE$].	false
+a0c022719e8f2e9b84ef452c42272fca8f51b2d6	@DISEASE$ presented with a skull @PHENOTYPICFEATURE$.	false
+7b50e427329ecdb95f637ea0747e5dadff1c46ac	@DISEASE$ is one of the common malignant @PHENOTYPICFEATURE$ in digestive tract.	false
+a1a1483aa09cdc2e6bbdbed34407b6f314a3d994	Documented @PHENOTYPICFEATURE$ growth suggested @DISEASE$ metastasis.	false
+0374285e11ee7df3fb25f68af29ba45c01df5d41	In vivo determination of @PHENOTYPICFEATURE$ optical parameters in @DISEASE$.	false
+4abc96709b44ba6ac7107e08c26d211ff5d3ba18	Secondary @DISEASE$: report of two cases showing intraluminal @PHENOTYPICFEATURE$.	false
+0412f75b754fe8b5285c20a20a259e23be690411	To evaluate the correlations occurring among plasma atrial natriuretic factor (ANF), renin activity (PRA), aldosterone (@DISEASE$) and urinary kallikrein (KK) in young @PHENOTYPICFEATURE$ and in young normotensives with or without a family history of hypertension, 26 essential hypertensives (mean age: 22.5 +/- 2), 21 normotensives (mean age: 22.3 +/- 1.9) and 13 normotensives with hypertensive heredity (mean age 22 +/- 1.8) under normal Na+ intake (120 mEq/daily) were studied.	false
+35d810bd2d1fd31e52274dee213642c919770541	This study provides, to our knowledge, the first evidence of overall normal cognitive function in neurologically and radiologically normal boys with @DISEASE$, indicating no evidence of @PHENOTYPICFEATURE$ despite the inherent ABCD1 mutation.	false
+9c5e88b41ed2df2fa79ab4e4d05b6b79aaaa193f	From results presented in this study we conclude, that a.) opioid receptors seem to influence regulation of ANP secretion both in healthy normotensive subjects and patients with essential @PHENOTYPICFEATURE$, and b.) that WI induced alterations of ANP on the one side and of PRA, @DISEASE$ and AVP on the other side are not interrelated.	false
+8c63a001cf643504da3c9ebeb2485c99b0ae14df	The most frequent clinical diagnosis (9/37 = 24%) was autoimmune liver disease (@DISEASE$; two with primary biliary cirrhosis), followed by seven (19%) with systemic lupus erythematosus (SLE), four (11%) with a motor and/or @PHENOTYPICFEATURE$, three (8%) with anti-phospholipid syndrome (APS), two with systemic sclerosis (SSc), two with Sj?gren's syndrome (SjS), and others with a variety of diagnoses.	false
+7713644cea778dfc49cf2771fb04f35a3189d530	Dorsal cranial @PHENOTYPICFEATURE$ (DCM), which affects the anterior latissimus dorsi (@DISEASE$) muscles of commercial broilers, is of unknown etiology, and it represents up to 6% of the partial condemnations in Brazilian slaughterhouses.	false
+bf057d179ed74329449b9ea01554817aacc1fa8e	Advanced lung disease (@DISEASE$) that requires lung transplantation (LTX) is frequently associated with pulmonary @PHENOTYPICFEATURE$ (PH).	false
+c303cb0e2f84e8f800c3ab8f8128bcb14fbd78c0	Cleidocranial dysplasia in mice, a radiation-induced skeletal @PHENOTYPICFEATURE$, showed striking homology with @DISEASE$ in humans.	false
+5749b52b587a23e0c77e4e2e329b870537b5c70d	@DISEASE$ in mice, a radiation-induced skeletal @PHENOTYPICFEATURE$, showed striking homology with cleidocranial dysplasia in humans.	false
+90a04cd85bb2cf9d4e637e9384951b5bc48a64a8	@PHENOTYPICFEATURE$ and delayed dentition as the primary manifestation of @DISEASE$ presenting with a diagnostic dilemma.	false
+435aaad18d04a13a76bb1c5b70d6cef7633f18b1	We describe a male patient with a pericentric inversion of chromosome 6 and classic @DISEASE$ (CCD), mild to moderate mental retardation, hearing deficiency, and @PHENOTYPICFEATURE$.	false
+33286d6322fa1f29a6f8ea778ccd43421fad6af9	@DISEASE$ (CCD) is a congenital hereditary condition caused by a dominant autosomal @PHENOTYPICFEATURE$.	false
+6e65ae31d1f66057cac57ed931f797a44a18673e	The features include @DISEASE$, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the distal phalanx and hypoplasia of the proximal phalanx of the big toe, pelvic dysplasia, bilateral hip dislocation, a constant @PHENOTYPICFEATURE$ with sparse hair, peculiar ears, severe micrognathism, and retracted and poorly delineated lips.	false
+cecd6adb5cd0c8f7968559b0cefe8ee2e1614d09	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and @PHENOTYPICFEATURE$ (evoking @DISEASE$), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+d6d828ed17f6367e3759b36d31701b1abfd05108	The most consistent clinical features were @DISEASE$/anophthalmia and sclerocornea/@PHENOTYPICFEATURE$ in all patients and congenital linear skin defects in 4/6.	false
+7339c9e9cffda62d5526cf13a6f263d4c63d3a14	Xp22.3 microdeletion syndrome with @DISEASE$, sclerocornea, linear skin defects, and @PHENOTYPICFEATURE$.	false
+7b53a449360169bd39b654bfb09b26c13c4efd2c	The ocular abnormalities include ptosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c9ffc5e638977b688700e99943e9d151f6e60b8d	An unusual case of cleft lip with @DISEASE$ and @PHENOTYPICFEATURE$, presumably secondary to amniotic bands is reported.	false
+8f46eb26ece7788da78701ef54324f04b0a210ec	The proband postnatally displayed additional abnormalities such as @DISEASE$, @PHENOTYPICFEATURE$, large low-set ears, and micrognathia.	false
+f2da52051db55a38eadb0c3e15d883313598e335	The proband postnatally displayed additional abnormalities such as @DISEASE$, hypertelorism, large low-set ears, and @PHENOTYPICFEATURE$.	false
+65c49d1ac1945f725166f43b86934a6d5de5fc4a	The transgenic mice displayed multiple eye defects, including @PHENOTYPICFEATURE$, cataracts and @DISEASE$.	false
+10e09fcbe863f087a6500d26394c3653a7bda0c1	A dysmorphic male child of 8 months age presented with @DISEASE$, micrognathia, @PHENOTYPICFEATURE$, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones.	false
+67b3e12945d3ab897c2b35252a149f3211cc90f8	A dysmorphic male child of 8 months age presented with @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones.	false
+9b87bc0cc1c566df42fbbea6dafbad058e3a52ec	Each has facial asymmetry, mandibular hypoplasia, ear abnormalities, hearing impairment, @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay.	false
+ad50fc2264d4a1d15749975bd7896d436552075d	Each has facial asymmetry, @PHENOTYPICFEATURE$, ear abnormalities, hearing impairment, @DISEASE$, heart defects, and developmental delay.	false
+c45ebce5484b0bfbfa98e38c3c25569bf9e251e3	Each has facial asymmetry, mandibular hypoplasia, ear @PHENOTYPICFEATURE$ impairment, @DISEASE$, heart defects, and developmental delay.	false
+d954f5fdd12e5ea4bec93c7732617aa17888e1ab	New lethal syndrome of fetal akinesia with characteristic facial appearance, severe @DISEASE$, microtia, and @PHENOTYPICFEATURE$ in two male sibs.	false
+085bb61eb1232e86ad9bb385e8baa7af08b01006	Holoprosencephaly with @DISEASE$, hypoplastic ears, vertebral segmentation defects, and @PHENOTYPICFEATURE$.	false
+5151728a669bbee4af77dbe2c40ba86f8a589658	Our objectives were to: (1) characterize obstructive sleep apnea (OSA) and CSA in patients in methadone maintenance treatment (MMT) for opioid dependence; (2) examine factors associated with SDB in this population; and (3) investigate whether SDB was related to severity of subjective sleep complaints in @DISEASE$ patients with subjective @PHENOTYPICFEATURE$.	false
+62c3d97905df756144441885f5fe2b4614524f41	To investigate the clinical characteristics and changing trends of @PHENOTYPICFEATURE$ (@DISEASE$) in children.	false
+b0295679182ffbe5548bd034675c93144ba3fa80	The results were statistically analyzed in patient and healthy control groups and then according to the presence of @PHENOTYPICFEATURE$ (@DISEASE$) in the patient group.	false
+876a49bf787261c513c165a55a9911649d5a7280	These reactions could be distinguished in: (a) mild hypersensitivity reactions in 20 of 194 patients, which manifested as itching (20 patients) and @DISEASE$ area erythema plus @PHENOTYPICFEATURE$ of the palms and soles (12 patients), occurring either during intravenous injection when most of the drug scheduled had been administered, or within 3 days, and (b) in severe reactions in 12 of 194 patients, which manifested acutely as itching, diffuse erythroderma, rigor, facial swelling, throat and chest tightness, tachycardia (12 patients) and bronchospasm (2 patients), and hypertension or hypotension in 8 and 4 patients, respectively.	false
+359d5e964330fdf943cc80b9a11f7683cc53b767	These reactions could be distinguished in: (a) mild hypersensitivity reactions in 20 of 194 patients, which manifested as itching (20 patients) and @DISEASE$ area @PHENOTYPICFEATURE$ plus erythema of the palms and soles (12 patients), occurring either during intravenous injection when most of the drug scheduled had been administered, or within 3 days, and (b) in severe reactions in 12 of 194 patients, which manifested acutely as itching, diffuse erythroderma, rigor, facial swelling, throat and chest tightness, tachycardia (12 patients) and bronchospasm (2 patients), and hypertension or hypotension in 8 and 4 patients, respectively.	false
+718b04804f4a04daa645043e603d2138be41854a	Modifications in total amount, frequency and duration of episodes of wakefulness (W), @PHENOTYPICFEATURE$ (D), slow sleep (SS) and paradoxal sleep (PS) were examined in cats with @DISEASE$ unilateral lesion in the locus coeruleus (LC) and/or neighbouring structures.	false
+ac385a8618455ab370989fcaae46bba5844fde77	Different background factors have been suspected as being causative: @PHENOTYPICFEATURE$, behavioural or psychological disturbances, @DISEASE$ bladder capacity, increased night diuresis and an insufficient production of the antidiuretic hormone during sleep.	false
+7dd40565dbefb434a5f782d5815c693b9d34ac8c	Association with @DISEASE$ fiber neuropathy and axonal large fiber @PHENOTYPICFEATURE$ has been described.	false
+c9ea6cd3b446182ec03d7116d7e1ff8f71f2d5dd	Longer response times to first, but not second pain in older subjects may represent an age effect on myelinated (A-delta; first pain) and not unmyelinated (C-fiber; second pain) nociceptive afferents and may represent a type of @DISEASE$ fiber @PHENOTYPICFEATURE$.	false
+84fc2208e133da96603095eb0cd0ae27cc74360d	Ex vivo fluorescence imaging allowed simple quantification of @DISEASE$ @PHENOTYPICFEATURE$ burden and was useful in measuring the effect of systemic therapy.	false
+76c1a3508c432a5d2ba25f24ae238ed240e21483	@DISEASE$ fiber @PHENOTYPICFEATURE$ (SFN) is emerging as a common complication in diabetes.	false
+e5b8a6089f1268b7b2a71f6caafbe9207c99ec39	Small, unmyelinated nerve fibers are particularly affected and @DISEASE$ fiber @PHENOTYPICFEATURE$ often clinically manifests at young age.	false
+87bb55c609bd656b5256633d5bf1fb75ba6b2f43	Newer techniques allow detection of @DISEASE$ lesions and may be sufficient to replace second-look surgery in patients with prior @PHENOTYPICFEATURE$ resection.	false
+9c5b28ca8b13069cd77e80c5b8e67f3a6e5ae20e	Distal @DISEASE$-fiber neuropathy (DSFN), @PHENOTYPICFEATURE$ (PN), diabetic neuropathy (DN), neuropathic postural tachycardia syndrome (POTS), and idiopathic autonomic neuropathy (IAN) were evaluated.	false
+60ef562bf4d5471c2be2fcd69cb5fd6034c16b82	@DISEASE$ syndrome with progeroid appearance, characteristic facial and @PHENOTYPICFEATURE$, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.	false
+57cbddf8df47ff7b99846facacc5065727ca53ca	Retinitis pigmentosa, @PHENOTYPICFEATURE$, nephronophthisis, and mild @DISEASE$ (RHYNS): a new syndrome?	false
+f0d2e34398e8b7b84a5d260318c8937830f8cbc3	Because of his short stature and other @PHENOTYPICFEATURE$, @DISEASE$ was considered.	false
+325098f05b11cfea1513257ca15a442db30ea7cb	Morquio A syndrome is characterized by a unique @DISEASE$, leading to short neck and trunk, @PHENOTYPICFEATURE$, laxity of joints, kyphoscoliosis, and tracheal obstruction.	false
+ff4e54a2edd5c34ae5ba31b59f2baa358e684662	In 28 of 41 suspected cases the diagnosis of abnormalities was determined after examination by 3D sonography: 17/28 clubfoot, 3/28 hand-polydactily, 2/28 upper limb contractures, 1/28 lower @PHENOTYPICFEATURE$, 4/28 micromelia within the syndrome of @DISEASE$.	false
+a1b3d7969a34cb91957f60f0b3e4258df552e978	In 28 of 41 suspected cases the diagnosis of abnormalities was determined after examination by 3D sonography: 17/28 clubfoot, 3/28 hand-polydactily, 2/28 upper @PHENOTYPICFEATURE$, 1/28 lower limb contractures, 4/28 micromelia within the syndrome of @DISEASE$.	false
+a00ecb30acadf082e3ebdbe22f10085f71f8b1ac	Other recurrent findings include hypertelorism, @PHENOTYPICFEATURE$, joint hypermobility, contractures, and mild @DISEASE$.	false
+82fda373f622a6d9c757e009445ed10acc2fa45f	L?ri-Weill dyschondrosteosis (LWD, MIM 127300), is a dominantly inherited @DISEASE$ with disproportionate short stature, @PHENOTYPICFEATURE$, and the characteristic Madelung deformity.	false
+654a1a59e1ab6e5019ed228c7e8831a7e7f2ac1b	The accumulation of these GAGs leads to distinguishing features as @DISEASE$ with disproportionate dwarfism, short neck, kyphoscoliosis, @PHENOTYPICFEATURE$, tracheal obstruction, coxa valga, genu valgum, and joint laxity.	false
+0ab77edc136de68314691ded7227e1c2fd005a87	Twin 1 showed subcutaneous edema, pleural effusion, and @PHENOTYPICFEATURE$, suggestive of lethal @DISEASE$ (Roberts syndrome).	false
+574c896ab780acbd2ec92de5b916d20aae8da07b	Robinow Syndrome (RS), a rare @DISEASE$ syndrome, is characterized by dysmorphic features resembling a fetal face, @PHENOTYPICFEATURE$, hypoplastic external genitalia in males, and renal and vertebral anomalies.	false
+4d841ebe016fe44bc043621ba625013311882fde	@DISEASE$ affects principally the bone, it might also comprise extra @PHENOTYPICFEATURE$; whereby the bone is replaced by a dysplastic fibrous tissue.	false
+0c0859bb3bdbb9f5f3a61ae822248f83f23c434d	The patient of Case 1 had @DISEASE$ on the upper and lower limbs, thorax, face and cranium, @PHENOTYPICFEATURE$, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels.	false
+be72aef6b8052934e3722fb1c3961939ee5c72c0	A unique expansion of the bone marrow stroma, also known as marrow fibrosis, is the hallmark of a variety of disorders including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+389371faddde358683d77d54bbf5e24d3dc2cec2	Radiological, light microscopic, and electron microscopic studies of the mandible showed @DISEASE$, a disease commonly reported to be present with hyperparathyroidism, but, to our knowledge, never before reported in association with any variant of @PHENOTYPICFEATURE$.	false
+bba61f7535cde3944fe50d111aa6108a0e2baaa1	In literature there is several reports about multiple CGCRG but unlike of that report our patient had no syndromes like Cherubism, Noonan syndrome, neurofibromatosis type-1 and systemic disease like @PHENOTYPICFEATURE$ ,@DISEASE$.	false
+280d0772e2ab3ff70cfb26dddd8444a234497ef6	Attention deficiency @PHENOTYPICFEATURE$ disorder and sphenoid bone @DISEASE$ association in a boy: SPECT/SPECT fusion imaging.	false
+f5d84b4c13458f3e0629a5212d0413ad1eaf4781	In this report we review the present state of knowledge regarding the use of bisphosphonates during childhood to ameliorate the @PHENOTYPICFEATURE$ associated with osteogenesis imperfecta, idiopathic juvenile osteoporosis, @DISEASE$ and cerebral palsy.	false
+4b12b813ab62cd27072e369c2724bd96c5006790	It must be distinguished from true giant cell tumors, brown tumors of @PHENOTYPICFEATURE$, aneurysmal bone cysts, and @DISEASE$.	false
+af9e001f101f71ba165eefa071fbc5d4162ee506	A 14-year-old white girl with mild dysostosis multiplex, @DISEASE$, @PHENOTYPICFEATURE$, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome.	false
+4ab4dbaa2808e7f68fb56637eb19b27ef62a27e6	The skeletal-related symptoms for MPS IVA include @PHENOTYPICFEATURE$ with short neck and trunk, @DISEASE$, spinal cord compression, tracheal obstruction, obstructive airway, pectus carinatum, restrictive lung, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints.	false
+542a7c3beec646678fae981e81543d7c1b0c1316	The unique clinical features are characterized by a marked @PHENOTYPICFEATURE$, @DISEASE$, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, abnormal gait, and laxity of joints.	false
+a2c1c2fd6283e4bb03ecde8a6f17d34f156f1c68	It is a rare disease with features of @PHENOTYPICFEATURE$, atlantoaxial instability with risk of cord damage, @DISEASE$, pectus carinatum, spine deformities, hepatomegaly, and restrictive lung disease.	false
+95627e95e0d966b7cce5b89f9b368e2de943fe04	@DISEASE$ was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and @PHENOTYPICFEATURE$ was observed.	false
+8bd9ca64e687b61a3471624271fd0da64cf5e337	Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between @DISEASE$ and @PHENOTYPICFEATURE$ was observed.	false
+040dd5dda412f3ec97ee6248e0f3847f4e752efb	SMD Sutcliffe or "Corner Fracture" type is characterized by @PHENOTYPICFEATURE$, developmental coxa vara, fragmented appearance of the metaphyses ("corner fractures"), abnormally shaped vertebrae, @DISEASE$, and dominant inheritance.	false
+5b8eb58200eac9176e7ef56d130ad2d61f62f6f1	We report on two new cases of syndromic @DISEASE$ in two consanguineous sibs, with @PHENOTYPICFEATURE$, born to young, healthy, second cousin parents with healthy children.	false
+0a2436d2cbd6517251e981db7386be4c0f8c70d5	@DISEASE$ diarrhea, symptoms included @PHENOTYPICFEATURE$, weight loss, bloating, flatulence, edema and others.	false
+e0e54778c9c319629b4998ed76f903f324914445	Primary endpoint was objective response; secondary endpoints were clinical benefit, percentage TKI dose reduction/discontinuation, hand-foot @DISEASE$, and nausea/@PHENOTYPICFEATURE$.	false
+61a88bb361167130dc4ab57b5687dd5394ee5b8d	The most common toxicities were hand-foot @DISEASE$, nausea/@PHENOTYPICFEATURE$, and asthenia.	false
+0457473c073b23755a386bfbbdfb8bdac76e8a7e	The most common treatment-related adverse events were hand-foot @DISEASE$, nausea, @PHENOTYPICFEATURE$, and fatigue.	false
+95a93d0e57fb8dd6e2344e6555410123ca77c1e9	Furthermore, Xeloda was well tolerated; the most common treatment-related adverse events were hand-foot @DISEASE$, nausea, @PHENOTYPICFEATURE$, and fatigue.	false
+ebb4fa10eeb10e8e8d50cadc1bd43c42f8fb4d2f	However, the therapy is often limited by the appearance of adverse events (AEs), including nausea/@PHENOTYPICFEATURE$, hepatic impairment, hand-foot @DISEASE$, hypertension and oral mucositis.	false
+6a9e868c91c780d422b822e29340fedd713ae710	We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also @PHENOTYPICFEATURE$, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of @DISEASE$.	false
+0005bf6402fc08f6a6cb6a3064572b34426f94c2	We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of @DISEASE$ and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also @PHENOTYPICFEATURE$, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of SD/THE.	false
+781daf8de92bed82e644fc02e4e19b1bca0151e1	Medical oncologists rated the following symptomatic AEs from prior trials as being highly important to patients (mean rating of ?7 on a scale from 0 to 10): hand-foot @DISEASE$, fatigue, decreased appetite, rash, @PHENOTYPICFEATURE$, and weight loss.	false
+3e059f41bd8581e68b408c7261542965ad3402d5	The most common clinical manifestations included @PHENOTYPICFEATURE$, constitutional @DISEASE$ and a palpable abdominal mass.	false
+928c92acce751e7c08a0ee60cc9119eb8959a36b	Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP) alone, or XP combined with the severe neurodevelopmental disorder Cockayne Syndrome (CS), or the infantile lethal cerebro-oculo-facio-skeletal (@DISEASE$) syndrome, characterized by dramatic growth failure, progressive @PHENOTYPICFEATURE$ and greatly reduced life expectancy.	false
+030818f4f1495bcf16962f8dd7d8f1c4153c4162	Pancreatic @PHENOTYPICFEATURE$ as part of the @DISEASE$.	false
+67e6a717bb761dad91c86779f9ffa2a2e80edc41	Multiple endocrine neoplasia type 1 is caused by germline mutations of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene.	false
+fdfba198a0399fdd5174bfd1d3b9480bfa883554	@DISEASE$ is caused by germline mutations of the multiple endocrine neoplasia type 1 @PHENOTYPICFEATURE$ suppressor gene.	false
+fe1a0a55f0876c4c84480837c7f14c369adf7e46	@DISEASE$: duodenopancreatic @PHENOTYPICFEATURE$.	false
+fc9f2a460f4871e584ab6c8f2aa6ac3a56572a17	This tumour may be a part of the multiple endocrine neoplasia type 1 (@DISEASE$) syndrome, in which case the @PHENOTYPICFEATURE$ are almost always multiple.	false
+6532808c93412b62f745b526009c32f26e28bc6f	This @PHENOTYPICFEATURE$ may be a part of the multiple endocrine neoplasia type 1 (@DISEASE$) syndrome, in which case the tumours are almost always multiple.	false
+576bb6f7130efc183d291c68db65abcdc2e58925	This tumour may be a part of the @DISEASE$ (MEN-1) syndrome, in which case the @PHENOTYPICFEATURE$ are almost always multiple.	false
+a5298b0fc73c611b6c74b1546582bd5ba7e6f19c	This @PHENOTYPICFEATURE$ may be a part of the @DISEASE$ (MEN-1) syndrome, in which case the tumours are almost always multiple.	false
+fe1a0a55f0876c4c84480837c7f14c369adf7e46	@DISEASE$: duodenopancreatic @PHENOTYPICFEATURE$.	false
+d5cb2cfb6f6f85a4b778798bdc70b07fefc05dd1	Gonadotroph @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+83b1dea6c79105b0d5317ecd85b47e55b0feb5a0	Diagnostic/therapeutic management of pancreatic neuroendocrine @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+c5cc51cddcba79bec7417c11e548131ab8d0b672	Pancreatic neuroendocrine @PHENOTYPICFEATURE$ (pNETs) are frequent in multiple endocrine neoplasia type 1 (@DISEASE$) syndrome.	false
+4720a284d6bc871e4dc140eada8a5bd0d73d5fef	Pancreatic neuroendocrine @PHENOTYPICFEATURE$ (pNETs) are frequent in @DISEASE$ (MEN1) syndrome.	false
+ba2cdb6efc263327476398c625570bda68483fa0	@DISEASE$ (or multiple endocrine adenomatosis type I) is a hereditary condition characterized by @PHENOTYPICFEATURE$ or hyperplasia involving multiple endocrine organs.	false
+641c21e9991471128a48a7128a12e6fd7d75a309	Wermer's syndrome (or @DISEASE$) is a hereditary condition characterized by @PHENOTYPICFEATURE$ or hyperplasia involving multiple endocrine organs.	false
+d8d2490309da9189c285f542645f9dc086ada277	Recently the @DISEASE$ (MEN-1) @PHENOTYPICFEATURE$ suppressor gene was cloned.	false
+0836999a158b7335f2d918ba8f8d21750fba44bd	Recently the multiple endocrine neoplasia type 1 (@DISEASE$) @PHENOTYPICFEATURE$ suppressor gene was cloned.	false
+62896a5c5e8e5f11618e2ea471277c58130ff0c6	Disease phenotypes are varied and can be as mild as Bj?rnstad syndrome, characterized by pili torti and @PHENOTYPICFEATURE$, or as severe as @DISEASE$, characterized by growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.	false
+0700fcfec4008930b2c92466b69d9320a44a6076	BCS1L mutations cause disease phenotypes ranging from highly restricted pili torti and @PHENOTYPICFEATURE$ (the Bj?rnstad syndrome) to profound multisystem organ failure (complex III deficiency and the @DISEASE$).	false
+63b293ed7df1e9c59e19a41642e84c26a4fe7db5	We describe a late-onset autosomal dominant limb girdle myopathy, associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bf9fe486cdca92d260b998f74d662653bd7ef40c	Mitochondrial myopathy presenting as @PHENOTYPICFEATURE$ with @DISEASE$.	false
+b8072b7e0e8b8b4ca4e02c0c4dbf77f0562c98b5	The prevalence of TTN mutations in patient with DCM, familial dilated cardiomyopathy (FDCM), and @PHENOTYPICFEATURE$ @DISEASE$ (SDCM) was 0.17 (95%?CI: 0.14-0.19),	false
+3e6dfdd3ca012d72c49f6c55ed3a801f7209f0de	Barth syndrome is an X-linked recessive disorder comprising @DISEASE$, @PHENOTYPICFEATURE$, and cyclical neutropenia.	false
+841bddf7232ab8d97fc7457e44fcc698868c7dd4	From the anesthesiologists point of view it involves mental retardation, @PHENOTYPICFEATURE$, difficult airway, cardiac abnormalities (pediatric @DISEASE$) and skeletal deformities.	false
+079c8f07a6aa95c16120138d872b6a0b98002280	From the anesthesiologists point of view it involves @PHENOTYPICFEATURE$, seizures, difficult airway, cardiac abnormalities (pediatric @DISEASE$) and skeletal deformities.	false
+8770ceaf6e4ddeaa83a670f4834f08b1326d5779	@DISEASE$ associated with Friedreich's @PHENOTYPICFEATURE$.	false
+25cf9e1687778a8d6153eece9538497627299efb	All three m.3242G > A patients presented in the neonatal period with hypertrophic and @DISEASE$, generalized @PHENOTYPICFEATURE$ and lactic acidosis.	false
+c3f76d7c6db2de0dc45c2285dd343fe4feca611d	[@DISEASE$ and Friedreich's @PHENOTYPICFEATURE$].	false
+fc3a2af8c4bfd13dab29bbc4eea0d08118807ba7	Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8e37a276c8a7973761434e0252a7fc671eb69b8a	Permanent use of a ventricle assist device for @DISEASE$ in Friedreich's @PHENOTYPICFEATURE$.	false
+51e3572e675864daf4dfa13a99de87c664990664	This review discusses the some of the more frequent, recurrent karyotypic abnormalities in which CDH is a feature, including 15q26, 8p23.1 and 4p16.3 deletions and tetrasomy 12p (Pallister-Killian syndrome), together with some of the syndromes in which CDH is a relatively common feature, including Fryns syndrome, Matthew-Wood syndrome, @PHENOTYPICFEATURE$ syndromes and @DISEASE$.	false
+34372052d12550e9249b76553b7b02e82c147ef1	@DISEASE$ (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade myopia, @PHENOTYPICFEATURE$ and low molecular weight proteinuria.	false
+66515277a35338ec1b3dc51fc5421fa19f8d869b	@PHENOTYPICFEATURE$ and (CTG)n expansion in @DISEASE$ patients.	false
+3bd51bf1fb851cb191232368f7744013683c2f94	@DISEASE$ is an autosomal dominant disorder that results in skeletal muscle weakness and wasting, myotonia, and numerous nonmuscular manifestations including frontal balding, cataracts, gonadal dysfunction, cardiac conduction @PHENOTYPICFEATURE$ insufficiency, and hypersomnolence.	false
+a725e161cf11e5fe66c80052bfc4f9b15997417f	A 39-year-old man with @DISEASE$ consulted our hospital for nausea, @PHENOTYPICFEATURE$ and dizziness that occurred after 75 g oral glucose tolerance test (OGTT).	false
+97b24bf9933a8be6f99c1c5bffb518b3810e6625	@DISEASE$ (MD) is characterized by myotonia, weakness and extramuscular symptoms, including @PHENOTYPICFEATURE$.	false
+4a3d83a89c8801dc42daffda21072c835beed375	@PHENOTYPICFEATURE$ and personality patterns in maternally versus paternally @DISEASE$.	false
+94d87692316c47546ec26541de94a7d0699421c2	@DISEASE$ (DM) is a genetic multisystemic disease with muscular, endocrine, ocular, cardiac and @PHENOTYPICFEATURE$.	false
+a5b992b1acd2bcfe0127244750cb7aa2f88f0271	A 57-year-old female with @DISEASE$ suddenly developed @PHENOTYPICFEATURE$, nausea and vomiting.	false
+c9ac34d88d26eec3eb3bc6cb75c32d6db30c4d42	These YACs are available upon request and should be helpful in mapping studies of disease loci, e.g., Charcot-Marie-Tooth disease, Miller-Dieker syndrome, hereditary breast tumor, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8ff75aef6f6852786a344ffa4bf17275592de1ad	This study reports a number of previously unreported cerebral magnetic resonance imaging findings associated with @PHENOTYPICFEATURE$ in @DISEASE$, but the etiology of these changes awaits neuropathologic examination.	false
+1afce2910b2a908bff605a6cbc7493c7414d2421	We studied 12 patients with @DISEASE$ using MRI and the Mini-mental state examination (MMSE), to see it specific MRI findings were associated with @PHENOTYPICFEATURE$.	false
+a2d46ecc65846babd21cfa327ca5602f5931a850	The syndrome typically includes preaxial or mixed pre- and postaxial polydactyly and cutaneous @DISEASE$, @PHENOTYPICFEATURE$, and macrocephaly in its typical forms, but sometimes includes hydrocephalus, seizures, mental retardation, and developmental delay in more severe cases.	false
+552767f89ebdc0214af91873dbb5625b529d6fdf	The syndrome typically includes preaxial or mixed pre- and postaxial polydactyly and cutaneous @DISEASE$, ocular hypertelorism, and macrocephaly in its typical forms, but sometimes includes @PHENOTYPICFEATURE$, seizures, mental retardation, and developmental delay in more severe cases.	false
+64aa615837619186d7fac158202201d66ea47eef	Among individual birth defects, significant excesses over expected rates were seen for spina bifida, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dcdde2fe015ca6d152c9fc9ea3a2f8dd551e54ee	Timothy syndrome is a rare multiorgan disorder with prolonged QTc interval, @PHENOTYPICFEATURE$, @DISEASE$, typical facial features and neurodevelopmental problems.	false
+4163d385080d6e6562fc0cf1b6805017149c2410	Filippi syndrome is an autosomal recessive condition characterized by @DISEASE$ of fingers and toes, microcephaly, @PHENOTYPICFEATURE$ and abnormal facies.	false
+a19046a9191427e732aa03814aca31680b48fa1f	Both show typical facial dysmorphism, @DISEASE$ of fingers and toes, @PHENOTYPICFEATURE$, postnatal microcephaly and developmental delay, particularly involving speech.	false
+16375e198d25bbebe069be0fa2a35b2f87751274	The syndrome is characterized by multisystem abnormalities consisting of QT prolongation, @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphism, and neurological symptoms.	false
+3dd05564ad86dcfea8ab30e6b5ae6400ca08d635	The patient has mental retardation, @DISEASE$, minor facial anomalies, and a @PHENOTYPICFEATURE$.	false
+563080a882772512590c446868879b651c777149	Affected females had @PHENOTYPICFEATURE$, broad nasal root, frontal bossing, craniosynostosis, @DISEASE$ of toes and fingers, and vertical grooving of nails.	false
+4301d1522d6b45c7a068e447e926bd44f137ff14	A male infant is presented with wide fontanels, @PHENOTYPICFEATURE$, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous @DISEASE$ of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I.	false
+4fa493246f6a4e4299517077f641e1bbcbba01d9	A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, @PHENOTYPICFEATURE$, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous @DISEASE$ of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I.	false
+bbd760ab32e7936a96bb9c10ed86979b8be9b1fd	Cutaneous @DISEASE$, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and @PHENOTYPICFEATURE$ are less common findings.	false
+eed65597c54517eb993aef1f19014e9841308b63	Carvajal syndrome is characterized by @PHENOTYPICFEATURE$, curly hair, @DISEASE$, especially on the left ventricle side, and early morbidity.	false
+d3fcb18efff1466a83b3ed98136970e6a48560c2	variant associated with progressive malignant @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1899972d44f5ff206f624a9de6154f3c1835b3ad	This patient presented at screening with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ca1cf7a1c0aefb59c62a22b0f676dc7037e6207	[Determinants of the prognosis in @DISEASE$: significance of ventricular @PHENOTYPICFEATURE$].	false
+c256031de709d2cf477e443b191e76099e472daa	Patient 2 was born with IUGR, significant craniofacial and body asymmetry, asymmetric @PHENOTYPICFEATURE$, unilateral hearing loss, scoliosis, VSD, unexplained @DISEASE$, feeding difficulties, failure to thrive, and recurrent respiratory tract infections.	false
+ed447f1e2f6e23586c81db5c11c58b1fd917899e	Patient 2 was born with IUGR, significant craniofacial and body asymmetry, asymmetric skin hyperpigmentation, unilateral hearing loss, scoliosis, VSD, unexplained @DISEASE$, feeding difficulties, @PHENOTYPICFEATURE$, and recurrent respiratory tract infections.	false
+a2ada05f3197cd7a92c9054dae15ecd67006ef29	Scrotal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e7d22c2a8ffb6af4a0ea147d01c890f408455a7e	The most common cardiac manifestations are a @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a9fa52cca3ca656d89e7b18458a86d8d88dff997	Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, @PHENOTYPICFEATURE$, and biventricular @DISEASE$.	false
+343a2f2a7676ce69a67b98991d81bb4846249b74	@DISEASE$ with conduction disease and @PHENOTYPICFEATURE$.	false
+3d8897e9b3158743d820b61ef1ed7ab1c347be4f	The absence of AIF can cause neurodegeneration, skeleton @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1f4893861c10e5410a653dbb8fec632bb43d805e	Here we reported the first identification of compound heterozygous mutations (c.G338A; p.R113Q and c.C1619T; p.A540V) in the SMO gene in a patient with both @PHENOTYPICFEATURE$ (congenital corneal opacity, cataract) and @DISEASE$, using trio-based whole exome sequencing.	false
+1f021dcc36826a828a30bd043a4aeac03289e945	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, @PHENOTYPICFEATURE$, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+5c76c01a05cc05f8936f36981ba7396a0ba62451	Macrocephaly, a previously unrecognized finding in @DISEASE$, was present in 10 infants (71%), 8 of whom presented with @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+9a41ced7823e2712f536e6e54ffe56a52d22e5d5	@DISEASE$ (MD) is the most common autosomal dominant @PHENOTYPICFEATURE$ in adults.	false
+6451b44c2421b89e6d8122fbbefcbee31871cc7c	@PHENOTYPICFEATURE$ and diaphragmatic elevation in @DISEASE$.	false
+c6239246a54ee49e1dd17ef047655186bc604366	@DISEASE$ (DM1), the most common form of adult @PHENOTYPICFEATURE$, is caused by anormal expansion of CTG trinucleotide repeats located in the 3'-untranslated region of the DMPK gene.	false
+b9def03ccbc8c6e6db566714f128892714f2ef40	@DISEASE$ (DM1), the second most common muscular dystrophy and most prevalent adult form of @PHENOTYPICFEATURE$, is characterized by muscle weakness, wasting and myotonia.	false
+0527160c4b101007422f0bc42bd4ba857f8c3431	There is sparse literature on palliative care in NMDs such as Duchenne muscular dystrophy, spinal muscular atrophy, @PHENOTYPICFEATURE$, some congenital myopathies, Pompe's disease and @DISEASE$.	false
+7a954bfb0c3f795ef082770fe24fc7248dda85db	@DISEASE$ (DM1), the most prevalent form of adult @PHENOTYPICFEATURE$, is caused by expansion of a CTG repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene.	false
+097b6e2fecde54e573f50c87f15bce4408742e52	@DISEASE$ (DM1) is a common adulthood @PHENOTYPICFEATURE$, characterized by muscle wasting, myotonia, and multisystemic manifestations.	false
+0b7a35d9a2310f37d62780d359a14f8136b7d70d	@DISEASE$ (DM1) is the most common worldwide autosomal dominant @PHENOTYPICFEATURE$ due to polynucleotide [CTG](                 n               ) triplet expansion located on the 3'UTR of chromosome 19q13.3.	false
+b0bab5f78dca721d6c225da7b7cffc9855e5a298	We report a case of a 58-year-old man suffering from @DISEASE$ and recurrent peripheral @PHENOTYPICFEATURE$.	false
+0c4c3d361a5b556538aceb0ab2d8d402cd0dd0cf	Two cases of @DISEASE$ are described, one having a generalised variety along with @PHENOTYPICFEATURE$, nystagmus, unilateral breast atrophy and intermittent divergent aquint, and the other having the localised variety associated with mental retardation, ventricular septal defect, sensorineural deafness, hypoplasia of first left metacarpal and extensive dental caries.	false
+d18e398b03895b3aad3fe7eb2929f73f18d9ec86	Two cases of @DISEASE$ are described, one having a generalised variety along with mental retardation, nystagmus, unilateral breast atrophy and intermittent divergent aquint, and the other having the localised variety associated with @PHENOTYPICFEATURE$, ventricular septal defect, sensorineural deafness, hypoplasia of first left metacarpal and extensive dental caries.	false
+356db7efd093f61362fd307f725b7c0ab8faa373	An uncommon type of epidermal nevus characterized by systematized bands of non-@DISEASE$ with increased hairiness and follicular hyperkeratosis was observed in a 16-year-old boy who showed, in addition, hemihypoplasia of limbs, @PHENOTYPICFEATURE$, clinodactyly and onychodystrophy.	false
+80519d1873c3bc322e633bc5b12170c5ab0a06a7	Furthermore, it was found that the @DISEASE$ short form is a reliable and valid measure that can be used as an indicator of @PHENOTYPICFEATURE$ in both clinical and research settings.	false
+290587c06983561a7218518b349e52becdfc92b4	Kallin syndrome (KS) is a variant of epidermolysis bullosa simplex (EBS), which, in addition to the classic features of @DISEASE$, also presents with @PHENOTYPICFEATURE$, alopecia, hypodontia and nail dystrophy.	false
+acb8e77e4c6dd1a0fcd1cc7eea52aa209531129c	Kallin syndrome (KS) is a variant of epidermolysis bullosa simplex (@DISEASE$), which, in addition to the classic features of EBS, also presents with @PHENOTYPICFEATURE$, alopecia, hypodontia and nail dystrophy.	false
+002bf8f0a1addb8b0451295ca8a18d115fa33455	APS may be an isolated disease (primary APS) or associated to systemic lupus @PHENOTYPICFEATURE$ or another autoimmune conditions (secondary @DISEASE$).	false
+9da0a944970d76715d2d4dfb2342b85274a2d1bd	APS may be an isolated disease (primary @DISEASE$) or associated to systemic lupus @PHENOTYPICFEATURE$ or another autoimmune conditions (secondary APS).	false
+0ce6bab74861f35c152f536ae4c792521d4a0fa6	@DISEASE$ may be an isolated disease (primary APS) or associated to systemic lupus @PHENOTYPICFEATURE$ or another autoimmune conditions (secondary APS).	false
+127d9b342ce1a8aeba7074eec07cdaa551d13293	The majority of patients (14/15) were female and the majority (14/15) had non-thrombotic neurological manifestations of @DISEASE$, most commonly migraine, @PHENOTYPICFEATURE$ and balance disorder.	false
+7986264fb4edd169be3b22d383e379a2379959de	The ACTTION-@DISEASE$ chronic cancer pain taxonomy provides an evidence-based classification for 3 prevalent syndromes, namely malignant bone pain, pancreatic cancer pain, and chemotherapy-induced @PHENOTYPICFEATURE$.	false
+227c29b78867de2ad6c9134aa41c5e50084a68c4	Our study group recently reported a correlation between primary @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9394fcd925a14665f2c12f33bda39f8afc8bfa00	The relationship between NMO and APS needs further clarification; however, AQP4 IgG testing is recommended in patients presenting with @DISEASE$ and myelitis, optic neuritis or brainstem @PHENOTYPICFEATURE$.	false
+03c9298f1b92f048781bee6cfb8c558dc45e9115	@DISEASE$ can also manifest itself in the following symptoms: epileptic attacks, dementia, headache, chorea, @PHENOTYPICFEATURE$, myelo- and encephalopathy phenomenologically similar to multiple sclerosis.	false
+7f8f10a0c84a3508fd168c43bb9e03f583b315cb	At least seven disorders result from trinucleotide repeat expansion: X-linked spinal and bulbar muscular atrophy (SBMA), two fragile X syndromes of @PHENOTYPICFEATURE$ (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1 (SCA1), and @DISEASE$ (DRPLA).	false
+0c35db7d64433254000d87165d51bc30f543c355	The cardinal symptoms of hereditary @DISEASE$ includes @PHENOTYPICFEATURE$, epileptic seizure and myoclonus, cerebellar ataxia with gait disturbances, psychological symptoms including clonus, cerebellar ataxia with gait disturbances, psychological symptoms including character changes, and dementia.(ABSTRACT	false
+fb9056c926cd8bf46effa78fc51ea383d3b77652	To clarify the factors relating to the prognosis of spinocerebellar degenerations (SCD), we performed a follow-up study on the survival of patients with Friedreich disease, familial @PHENOTYPICFEATURE$ paraparasis, sporadic olivopontocerebellar atrophy (OPCA), hereditary OPCA of Menzel type, sporadic late cortical cerebellar atrophy (LCCA), cerebellar atrophy of Holmes type, Shy-Drager syndrome, striatonigral degeneration, @DISEASE$, or Joseph disease.	false
+7b2525e279e98c801a5b375cdbfe8ea288fe6230	We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the @DISEASE$ gene at 12p13; 4) the choreoathetosis/@PHENOTYPICFEATURE$ disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2;	false
+a63149367e32ea34ac2f6ef94dac2e17e9afc439	Early-onset childhood @DISEASE$ involved @PHENOTYPICFEATURE$, whereas myoclonic epilepsy was the predominant complaint in later-onset childhood version of the disease.	false
+fea22559418e0eaedf93b986e81c1ed6fe8b1bfa	Expansion of repeating triplets of nucleotides in the genome has recently been associated with nine degenerative and developmental neuropsychiatric diseases: fragile X syndrome, fragile X-linked @PHENOTYPICFEATURE$, myotonic dystrophy, Friedreich's ataxia, spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type 1, @DISEASE$, and Machado-Joseph disease.	false
+3ef5e38c4c15ca20401842119c062f5d80cf2a72	The juvenile type of @DISEASE$, like Huntington's disease, is most commonly inherited via paternal transmission of the gene and most frequently presents with early-onset progressive myoclonus epilepsy with @PHENOTYPICFEATURE$ and ataxia.	false
+4ab5ec46d2344fb68e29df4a08b6ad8b04587072	To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of @PHENOTYPICFEATURE$ both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type I, @DISEASE$, and Machado-Joseph disease.	false
+6d7869caa41e4142fb4ef7f48e049fd7d5f9cfe3	However, de novo @PHENOTYPICFEATURE$ are more commonly reported in cases of severe @DISEASE$, and are less often reported in generalized epilepsy with febrile seizures plus.	false
+eccdc8c04573472fe2f5a4dc9f801a7a3e2b8207	A 6-year-old boy developed rhabdomyolysis following @PHENOTYPICFEATURE$ and status epilepticus with a diagnosis of severe @DISEASE$.	false
+fbcef85b199064ccd00c1831636f251210573f64	@DISEASE$ and @PHENOTYPICFEATURE$ were the most frequent features (100% and 88.9%, respectively) of the two subtypes.	false
+4f5fd032b176b40f7e6f04c2680c254bf9c24ed8	@DISEASE$ with darker iris on the glaucomatous side was present in 11 of the 30 patients with unilateral @PHENOTYPICFEATURE$ (37%, P < .001)	false
+6986c9a93a0e4dc50fb680e986c30e1911e7eaff	Extrarenal manifestations are known, such as retinitis pigmentosa (@DISEASE$, SLS) and @PHENOTYPICFEATURE$ type Cogan.	false
+8646a4514f737d856a3625c773826bb872ff55fc	This is the first description of PMD in human adrenal chromaffin cells and, in addition, is the first report of @DISEASE$ in @PHENOTYPICFEATURE$ secretory cells.	false
+4e484c2dbb37be524942c47fa0ffaf6b1af7ecfb	This is the first description of @DISEASE$ in human adrenal chromaffin cells and, in addition, is the first report of PMD in @PHENOTYPICFEATURE$ secretory cells.	false
+77fc59eb2ade9ad98b362d94cf0eca337ebd9283	By contrast, in the classical form of @DISEASE$, @PHENOTYPICFEATURE$ and cognitive deterioration are more prominent with a more slowly progressive course.	false
+f931774050806664678ef761c76ef83e29a8944e	@DISEASE$ does not seem to play a role in the lymphatic spread of @PHENOTYPICFEATURE$ cells.	false
+e3881f7e7e873ace17b4fedc925b4f773084bcfd	Preoperative characteristics were severe left ventricular failure in @DISEASE$ group and high incidence of @PHENOTYPICFEATURE$, in associated with high age in PR group.	false
+04cbdd754f9f34eb62907b3c06b3cfbbcbbe5d78	In most cases of @DISEASE$, hypomyelination with congenital cataract, hypomyelination with @PHENOTYPICFEATURE$ and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis and fucosidosis, the imaging pattern gives clues for the diagnosis.	false
+1800b0fecb2d18ce32cd4f27653ca18c788dc952	A total of 112 patients with @DISEASE$, hypomyelination with congenital cataract, hypomyelination with @PHENOTYPICFEATURE$ and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, Salla disease and fucosidosis were included.	false
+a03ee058be15920f20b24d18e4223b48fb2eb5da	Patients with ER-negative @PHENOTYPICFEATURE$ had an average @DISEASE$ of 38%, whereas patients with high ER expression had a PMD of 35%.	false
+b414b0e475f00ead0d76c078bd4a3b52f8b73133	Patients with ER-negative @PHENOTYPICFEATURE$ had an average PMD of 38%, whereas patients with high ER expression had a @DISEASE$ of 35%.	false
+9c5224c952f62352da10e417ab2cc7733fc61bc4	The released Dox from @DISEASE$ inhibited @PHENOTYPICFEATURE$ cells very efficiently with a tumor growth inhibition of around 70%.	false
+d4b8a3e37cc33378bdee46834022f4309eda546b	The released Dox from @DISEASE$ inhibited tumor cells very efficiently with a @PHENOTYPICFEATURE$ growth inhibition of around 70%.	false
+6b8733417f5c5c404b7d647d49d3b4720c4bd496	Our series identified four potential new associations with @DISEASE$: placental triploidy mosaicism, CHARGE syndrome, fetal pleuropulmonary blastoma and fetal @PHENOTYPICFEATURE$.	false
+da86f942ce1a3cb08011fcd42ed101559ab8957f	@DISEASE$, hypomyelination with congenital cataract, hypomyelination with @PHENOTYPICFEATURE$ and hypodontia, infantile GM1 and GM2 gangliosidosis, Pelizaeus-Merzbacher-like disease and fucosidosis); only two clusters contained multiple diseases.	false
+1f9dc535a15147578fb119bf23325effe9f096d5	We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, @DISEASE$, adrenal insufficiency, intermittent hypoglycemia, @PHENOTYPICFEATURE$, psychomotor retardation, and growth delay.	false
+59794b7e342dae98f8727b8639633a8c8f9dd1c5	Two brothers with a recently described inborn error of metabolism characterized by glyceroluria, hyperglycerolemia, and generalized @DISEASE$ had moderate psychomotor retardation, @PHENOTYPICFEATURE$, growth failure, a nonspecific myopathy, osteoporosis, and adrenal insufficiency.	false
+0a10f7d3b8f5c736b614d1c9f7e28526368c31a7	Congenital adrenal hypoplasia, progressive muscular dystrophy, and @PHENOTYPICFEATURE$, in association with @DISEASE$, in male sibs.	false
+c54543301875190c16443b6d7a24514199e890e7	This region is completely represented by a series of overlapping YACs, and we are currently generating a transcription map with the aim of identifying the @PHENOTYPICFEATURE$-suppressor gene associated with the development of the @DISEASE$.	false
+ea4dd568839ef51a6fa42f5bc900fc3a034b95ff	Candidate genes showing haploinsufficiency in the @DISEASE$ included the @PHENOTYPICFEATURE$ suppressor gene SPARC and RPS14, a component of the 40S ribosomal subunit.	false
+895a7dc002a09fa487262e987d3406211e315816	The fifth human chromosome is the carrier of genes the pathogenic alleles of which cause one of the most frequent recessive hereditary diseases of child age--spinal muscular atrophy (SMA), the development of @PHENOTYPICFEATURE$ of the large bowel and a group of haematological malignant conditions which are part of the so-called @DISEASE$.	false
+c779aef83a8f3f8743b85dbdec684f63f2f544db	MDS subtypes were distributed as follows: MDS with single-lineage dysplasia (n = 10); MDS with multi-lineage dysplasia (n = 10); MDS with ringed sideroblasts (n = 4); MDS with excess blasts-1 (n = 9); MDS with excess blasts-2 (n = 13), MDS unclassified (n = 5); @DISEASE$ (n = 6); and MDS/myeloproliferative @PHENOTYPICFEATURE$ (n = 3).	false
+cbb5fccbd811ce4dba9f2b1f3ff5ac3889a94ad3	These deletions center at band 5q31, which has thus been proposed as the location of a @PHENOTYPICFEATURE$ suppressor gene; this site is to be distinguished from that observed in @DISEASE$, centering at 5q32.	false
+a159266e9cf81630952df5143ce6cac2bcae1f56	Up-regulation and increased protein expression of the @PHENOTYPICFEATURE$ suppressor gene SPARC is of particular interest because it is antiproliferative, antiadhesive, and antiangiogenic and is located at 5q31-q32, within the commonly deleted region in MDS @DISEASE$.	false
+ec2b94e1ccbf9be0ce7cf0d1199089ebdf9579de	@DISEASE$ (CRMO) and @PHENOTYPICFEATURE$ calcinosis are two distinct musculoskeletal diseases with unclear etiopathogenesis.	false
+a2c1bedf3b8c76bb705d69b6bbe406375f9e451c	Three cases were previously reported with hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis that were associated with @DISEASE$, an autoinflammatory disorder that is characterized by recurrent episodes of bone pain.	false
+648ac7992a95a2dcc986afd24cb00f02d62fc822	Case series of psoriasis associated with @PHENOTYPICFEATURE$ necrosis factor-? inhibitors in children with @DISEASE$.	false
+f593a8d5f1c5bbc59fd7d859cfc1f53c178f6fa2	Successful treatment of @DISEASE$ with @PHENOTYPICFEATURE$ necrosis factor-alpha blockage.	false
+f25349d6ded571e69edd2c166eaa0978a7300ac2	@DISEASE$ associated with @PHENOTYPICFEATURE$ calcinosis.	false
+19708c784ba9c19d5bacec358dbff1383e434e49	Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in GALNT3 causes hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis associated with @DISEASE$.	false
+b5aa1b1b542e5fd57450be4df74092c1663ef316	GALNT3 gene mutation-associated @DISEASE$ and familial hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis.	false
+00873d221e2c0e430cbee5f0321d9aac4f1fa309	Recessive mutation in GALNT3 causes hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis associated with @DISEASE$.	false
+323d5e19e0ff5ccb1e05c289510df4ab11bf6027	Normophosphatemic type @PHENOTYPICFEATURE$ calcinosis associated with @DISEASE$: a case report.	false
+d7feacb304cd88ed6895a59b758dad6384b0d056	Three cases presented with isolated @PHENOTYPICFEATURE$, one with Dandy- Walker malformation and three with @DISEASE$.	false
+49fa2d5f714d765f151d9a4303ff85431048be24	NPHP can be associated with retinal degeneration (Senior-L?ken syndrome), brainstem and @PHENOTYPICFEATURE$ (@DISEASE$), or liver fibrosis.	false
+a8a9fb0734480b7c740e8c0416a0f6baffb89cc9	In addition, deletions of the NPHP1 gene, usually responsible for isolated @PHENOTYPICFEATURE$, are occasionally encountered among @DISEASE$-related disorder patients.	false
+238dcd59243614d18e5c0467ea37c868fcadaaa9	@DISEASE$ is an autosomal recessive disorder comprising @PHENOTYPICFEATURE$, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements.	false
+c6057083a0d554735e182651c68c78f250e803c5	@DISEASE$ and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, retinal dystrophy and nephronophthisis (a cystic kidney disease).	false
+b3454601d0f1ca18cce3dbd02b25a15793a4f49e	Posterior fossa malformations such as @PHENOTYPICFEATURE$ or @DISEASE$ are known to be related to developmental problems in a marked to moderate extent.	false
+d52bfd5fe8313b08c48a4b2626bdfbdf858cef03	Recent studies identified a previously uncharacterized gene C5ORF42 (JBTS17) as a major cause of @DISEASE$ (JBTS), a ciliopathy associated with @PHENOTYPICFEATURE$ and other birth defects.	false
+636c6b5de140a1e132c198695571df706cd63c23	@DISEASE$ is an autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements.	false
+b3454601d0f1ca18cce3dbd02b25a15793a4f49e	Posterior fossa malformations such as @PHENOTYPICFEATURE$ or @DISEASE$ are known to be related to developmental problems in a marked to moderate extent.	false
+3c8471b6b75afc858da8cce6b0a257c77165a93d	Clinical manifestations and @PHENOTYPICFEATURE$ in these sibs are similar to those described in the @DISEASE$ (JS).	false
+9a84c342781704251b9dbb06e53608db48d24e32	@DISEASE$, first described in 1972, is a rare X-linked @PHENOTYPICFEATURE$ that has been mapped by linkage to Xp22.	false
+888489cc4129f0d396c05b821bc487f8c8c0e983	@DISEASE$ is a distinct X linked @PHENOTYPICFEATURE$ syndrome mapping to Xp22.	false
+63be174d21631551ec0b9004d75bfa8e7b9228ce	Mutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked @PHENOTYPICFEATURE$ (XLMR) families, including the original family with @DISEASE$.	false
+71ecad4a444ae560e3831edb5d76c8cb27886eda	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (@PHENOTYPICFEATURE$, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+846c2385284058c67f962caa68033a44d61e3b06	@DISEASE$ is a familial or sporadic cardiac and skeletal @PHENOTYPICFEATURE$ associated with mutations in desmin.	false
+ed6ffd5e10911844f51c417cb1901d91f867bed8	@DISEASE$ is a familial or sporadic skeletal and cardiac @PHENOTYPICFEATURE$ caused by mutation in the desmin gene.	false
+24f8bbdefdaa1d2b2d6e1616241be8a568104fec	@DISEASE$ (DCM) is characterized by @PHENOTYPICFEATURE$ and depressed myocardial performance.	false
+7bf47efa09ca9530ac865ec588ff22c57cb8c7dc	Mutations in sarcomere protein genes account for approximately 10 percent of cases of @DISEASE$ and are particularly prevalent in families with early-onset @PHENOTYPICFEATURE$ and dysfunction.	false
+a668f1ee5542d8b85bca0c329d5f35e73efb0c54	@DISEASE$ (F-DCM) describes a clinically and genetically heterogeneous group of diseases, mostly inherited as autosomal dominant traits, having idiopathic left @PHENOTYPICFEATURE$ and dysfunction as a common phenotype.	false
+d907b312fc462e6835e2f972759da4c2cafe2e9a	We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, @PHENOTYPICFEATURE$ and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with @DISEASE$.	false
+1613567b8de037ea8de8a1e5ca6895b2d15804ab	Catecholamine syndrome, @DISEASE$ @PHENOTYPICFEATURE$ and stroke.	false
+8c9e2950caa4df6774d6831b42a278babddb5a4d	@DISEASE$ @PHENOTYPICFEATURE$: long-term results from 111 resections.	false
+e74a88f6f125fb81c9fc24bbe7762f0d9d556c2f	[@DISEASE$ @PHENOTYPICFEATURE$: clinico-morphologic characteristics, diagnosis].	false
+eb3cb1ce5ff914892b9641dde96dc09af001afe1	@DISEASE$ account for 2% of primary @PHENOTYPICFEATURE$.	false
+424462049468499557295083306c43ec1117c6be	There were 3 cardiac anomalies including ventricular septal defect, pulmonary artery atresia and tetralogy of Fallot, 4 musculoskeletal malformations, consisting of missing rib, polydactylia and complex distal @PHENOTYPICFEATURE$, 4 urological anomalies such as bladder exstrophy, horseshoe kidney and dysplastic kidneys, 2 occipital encephaloceles, 2 congenital adrenal hyperplasia patients with ambiguous genitalia, 1 omphalocele, 1 albinism and 1 @DISEASE$.	false
+de74d892ce30ce7c5cab6610b60576032365fd03	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterized by abnormal fusion of two or more vertebrae.	false
+5a209bde7c9388da05bc2c179f25aa51a22485f2	Patients with @DISEASE$ (KFS) frequently encounter difficult airway management due to @PHENOTYPICFEATURE$, including fusion of two or more vertebrae and short neck.	false
+3600231bd50da9012347d01143a6746ba8dbda93	Recently, cilia-related gene deficiencies have been implicated in several congenital disorders that exhibit @PHENOTYPICFEATURE$ such as Joubert syndrome, @DISEASE$, Bardet-Biedl syndrome, and Orofaciodigital syndrome.	false
+239ba10ccf65b5e64c460d21b4986be02b9cebbc	The concurrence of marked oligohydramnios and bilateral severe @PHENOTYPICFEATURE$ should initiate a search for anomalies of the central nervous system indicative of the @DISEASE$.	false
+dda9c58088c25710716fe77d6586119e320909b0	We reported different types of congenital anomalies including eight cases of isolated central nervous system anomalies, four abdominal, five musculoskeletal anomalies, seven cases of @PHENOTYPICFEATURE$ and two cases of @DISEASE$.	false
+ef6dfabf59a8ad300ce6b44454fdc167ebde5886	This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, @DISEASE$, Joubert syndrome, @PHENOTYPICFEATURE$, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism.	false
+b4129992f0280376900cff288783f275868a890f	We report on a boy with several findings of the @DISEASE$, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and @PHENOTYPICFEATURE$, but a Dandy-Walker malformation rather an occipital meningocele.	false
+280491e7c70278e52b3c1edb04ac0e7fab8d4a88	There were no reported cases of aneuploidy; however, four (11%) cases were associated with @DISEASE$, two (6%) with a disruptive syndrome and one (3%) with @PHENOTYPICFEATURE$.	false
+24a5550f6436e769a0d5141dd30f3c0515a08f63	We found 14 neural tube defects (nine spina bifida, four anencephaly, one @DISEASE$), four abdominal wall defects, two @PHENOTYPICFEATURE$, and eight normal examinations.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+a6dcc1c12f3f194af58e0f1a8ec62fe772d54f2e	Pseudo-Foster Kennedy syndrome is a triad consisting of ipsilateral optic atrophy, contralateral optic disc @PHENOTYPICFEATURE$, and ipsilateral @DISEASE$ in the absence of an intracranial mass.	false
+33e61350c35fcb33b76416615d652718527fe5f7	Transient epiphora, bleeding, excessive and/or prolonged @PHENOTYPICFEATURE$, septal dematoma, transient @DISEASE$ and various problems with packing were observed in the early postoperative period.	false
+14aa63da0a2e3747d62d88a0b058226fa9d6a0d5	Over the past two decades, Cerebrospinal Fluid (CSF) leak repair has advanced from open invasive intracranial approaches to transnasal endoscopic ones that avoid the traditional morbidities of frontal craniotomy approaches--such as @DISEASE$, intracranial haemorrhage or @PHENOTYPICFEATURE$, seizures, memory deficiencies, and behaviour disorders--reducing morbidity, reducing hospitalisation times and accelerating return to work, and therefore cutting indirect costs.	false
+39b70d346a526c38bca00b14732c8cc08864d8b8	A case of familial @DISEASE$ associated with eye and @PHENOTYPICFEATURE$.	false
+c371821df16d3f23f8958e1c3c0bf9099e1f0052	The close relationship between central ray deficiency, @DISEASE$, and @PHENOTYPICFEATURE$ was discussed from the standpoint of development of the hand.	false
+2e4f8cff84952ce7b1b1a430906485d095bc71e1	Two types of @PHENOTYPICFEATURE$ were observed: simple, such as rudimentary digits, complex, with associated bone malformation or @DISEASE$.	false
+9b4aa2e3e7dfb2c9cf33f4b77105aabb471c8c70	@DISEASE$ type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with @PHENOTYPICFEATURE$.	false
+872c2f0befd7f3ac2c8221f491d23c73cda940ae	Skeletal abnormalities included @DISEASE$, @PHENOTYPICFEATURE$ and lobster claw deformities.	false
+bee276e2a6658bd31e1a30635cbddcf13a980eb9	A syndrome of @PHENOTYPICFEATURE$-@DISEASE$ and triphalangeal thumbs in three generations.	false
+f65aeace3720cff77adb922a501643dca376f340	A three-generation Han Chinese family was found with complex digital anomalies including various types of @PHENOTYPICFEATURE$ and @DISEASE$ of fingers and toes.	false
+811e85690097aa7b13222821ac334fe78f27d3dd	Significant racial differences were found in the incidence of @PHENOTYPICFEATURE$, @DISEASE$, anomalies associated with syndromes, and transverse arrests.	false
+c0a2c4b588134e96d95fa729270f6f9ee835f2c7	We review and expand the present classification of @PHENOTYPICFEATURE$ and @DISEASE$ syndromes.	false
+e68bf314c952bab7d1cd080fb9dfd0daed4d5e91	Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+f8ddff90b159b0b72027f516244f82a9ff4a6713	@DISEASE$ (CVI) has become the primary cause of visual impairment and @PHENOTYPICFEATURE$ in children in industrialized countries.	false
+fd52df0596e132979e5ecbf922ca436683ec2d82	In the United States, the 3 leading causes of childhood @PHENOTYPICFEATURE$ appear to be @DISEASE$, optic nerve hypoplasia, and retinopathy of prematurity; a national registry of the blind would allow accumulation of more complete and reliable data for accurate determination of the prevalence of each.	false
+0f578c92dc50dd76fdcece00f7f90fe53d14b024	Other common features include seizures, strabismus, nystagmus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5723278550ffb0d00e1381c950972a2014a9da74	@DISEASE$ (CVI) results from perinatal injury to visual processing structures and pathways and is the most common individual cause of pediatric visual impairment and @PHENOTYPICFEATURE$ in developed countries.	false
+c6d94c74efa6ff61d1f3e115b0c63ec6be664354	8 (44.44%) had retinal @PHENOTYPICFEATURE$, 5 (27.76%) had lens-related blindness, 2 (11.11%) had bilateral microphthalmos, 1 (5.56%) was blind due to anterior staphyloma in the right eye and anophthalmos in the left eye, 1 (5.56%) had bilateral uveal coloboma and 1 (5.56%) had @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+37cb3df0021d8c8ead2a4255b30f1f0593044a8e	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and @DISEASE$.	false
+f43416605ed9748a27f03f06276bfaa83ab54f63	Homonymous hemianopia (HH) is the most common @DISEASE$ leading to @PHENOTYPICFEATURE$ in the contralateral hemifield.	false
+e10a7ed622ca1ce4a5bfd829b34383dbfae5501c	This included eight for pulmonary invasion of @DISEASE$, and six for synchronous @PHENOTYPICFEATURE$.	false
+c5fda7fca7ffd4eabae149b11a360061b41f096b	GDER in isolation induced marked esophagitis in 61.1% of rats, Barrett's esophagus in 16.7% and esophageal adenocarcinoma in 16.7%; when associated with DEN, 23.5% of rats presented marked esophagitis, papillomatosis @PHENOTYPICFEATURE$, whereas 76.5% had @DISEASE$, with 70.6% epidermoid carcinoma and 5.9% adenocarcinoma.	false
+e85113acd538b578005b09b1f3ca6135718cf6b7	Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital @DISEASE$ cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, @PHENOTYPICFEATURE$, as well as other dysmorphic features.	false
+900f24d08ecd1a48b716695551a8ba9b4fb83f53	@PHENOTYPICFEATURE$ such as endothelial dysfunction and arterial stiffness have been described in patients with @DISEASE$ (beta-TM).	false
+777478e26a20cb25828999bf3c08fb357b0ffec0	@DISEASE$ (SEDC) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, abnormal epiphyses, and flattened vertebral bodies.	false
+df9ea792803a1de302044e6edc98493f1507cb44	@DISEASE$ (SEDC) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies.	false
+ac2aa40fc32a9b3e87ee5aab6739578fd50089ac	The present paper describes a case of @DISEASE$ (S.D.C.), a heritable bone dysplasia manifested at birth and characterized by @PHENOTYPICFEATURE$ and retarded ossification of vertebral bodies, pelvis and extremities.	false
+7214d9038b8d31cc2d1e5fe18ab2e1461fe78b5d	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, @DISEASE$, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+eb6443a6a7cdce77a5908144dbe12c8a8f490055	@DISEASE$ (SEDC) is a group of rare inherited chondrodysplasias characterized by @PHENOTYPICFEATURE$, abnormal epiphyses, and flattened vertebral bodies.	false
+852015ca8cbf447f2c8a5d621611a56ccf674c8a	Two unrelated infants seen for evaluation of @PHENOTYPICFEATURE$ at 14 and 27 months, respectively, had clinical and radiographic findings consistent with the diagnosis of @DISEASE$ (SED congenita).	false
+7660b3275aa55807621e6f5cc9a49fc0ca5df9e7	Since scoliosis is the most common problem for which patients of congenitally @PHENOTYPICFEATURE$ present to the operating room, the preoperative evaluation of dwarfs is discussed here in the context of a patient with @DISEASE$.	false
+be4052ede978274ed2fabbd235ae9b1741958356	Pseudoachondroplasia (PSACH) and @DISEASE$ (SEDC) are autosomal dominant forms of short-limb @PHENOTYPICFEATURE$ caused by mutations in genes that encode structural components of the cartilage extracellular matrix.	false
+777478e26a20cb25828999bf3c08fb357b0ffec0	@DISEASE$ (SEDC) is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$, abnormal epiphyses, and flattened vertebral bodies.	false
+1533e21d69b49c81f745cdb20e53a5cfdff1d6df	@DISEASE$ (RBS) is a rare genetic disorder characterized by craniofacial abnormalities, limb malformation, and often @PHENOTYPICFEATURE$.	false
+06e792ee3ebf9036a8e5a37f24b67f052e2a5b6e	Retinal architectural features identified in association with SRD included focal macular edema (59?%), diffuse macular edema (50?%), any intraretinal @PHENOTYPICFEATURE$ (77?%), both diffuse and focal macular edema (32?%), and retinal pigment epithelial @DISEASE$ (27?%).	false
+93dcdc000580e3fbb900c6f138310b3a40d69b23	The participants were evaluated for the following clinical variables: @PHENOTYPICFEATURE$, gingival color @DISEASE$, and marginal bleeding of the gingival tissues, collected at 6 sites per tooth in the anterior region of the mouth.	false
+9c18980171b17e28f82b5f9b530c7a3f91fa30cc	Severity index criteria should be considered at admission: severe dehydratation, mental status @DISEASE$, renal impairment, @PHENOTYPICFEATURE$, ionized calcium level, nausea or vomiting, low social level.	false
+db4b83a2951007df71eb14370b9b44359c4a8085	Failure of cells to migrate or an inappropriate acquisition of migratory capacities can result in severe defects such as @DISEASE$ pigmentation, skull and @PHENOTYPICFEATURE$ during development, and defective wound repair, immunosuppression or tumor dissemination.	false
+13a37566f9844c15326f1f02cb90711a07bb3288	The fundus examination revealed generalized retinal pigment epithelial @DISEASE$, subretinal tracks, retinal @PHENOTYPICFEATURE$, macular oedema, and a pale disc.	false
+e9edad1508d4d4a96d54dda2ad430a7d65a10dbc	The cLT content in the hepatic tissue after 12 and 24 h reperfusion was increased 4- to 5-fold compared to controls and this was accompanied by the enhancement of hepatic @PHENOTYPICFEATURE$ and plasma @DISEASE$ elevation.	false
+b634a078f3d995677886a17f4c1b0530e8cc3119	Bronchial @PHENOTYPICFEATURE$ @DISEASE$ (99m)Tc-DTPA clearance from the airway surface in sheep.	false
+1f431bc369be6acbdb445bcaff122b8ed00b01de	The patient presented with @DISEASE$ mental status and seizures and subsequently developed a wide complex @PHENOTYPICFEATURE$ with a rare alternating bundle branch block pattern.	false
+ccfb1d25d578f0bd4ba118be537f27869b890b98	Intravenous administration of conjugated DFO produces no significant change in systemic hemodynamics, whereas both @DISEASE$ and tissue @PHENOTYPICFEATURE$ were decreased by approximately 50%.	false
+6a778fbd4baecb855876009cf064ef1efd1492b7	SAM attenuated both inflammatory factors and their abilities to induce tissue dysfunction, which was mainly evidenced by decreased infiltration of polymorphonuclear leukocytes, tissue @PHENOTYPICFEATURE$, and lung wet-to-dry weight ratio, lowered levels of myeloperoxidase (MPO), nitric oxide (NO), lactate dehydrogenase (LDH), alanine aminotransferase (@DISEASE$), and aspartate aminotransferase (AST) in serum, as well as downregulated expressions of iNOS and IL-1beta mRNA in livers.	false
+b3fc482053641170ca5bfa5bdf9be3e176df6012	There were 579 @PHENOTYPICFEATURE$ (576 patients) treated with @DISEASE$.	false
+ebbbac1d599792124f956f2af55c550f3fd8bef5	GRS and @DISEASE$ were compared with respect to @PHENOTYPICFEATURE$ detection and uptake.	false
+15e68329b285758f3593978bf6aad9beb85c1fe8	SBRT originated from stereotactic radiosurgery (@DISEASE$) for intracranial @PHENOTYPICFEATURE$.	false
+026f0fc2a62943438f5af276563e72ec95bd6e4f	CK/@DISEASE$ appears to reduce @PHENOTYPICFEATURE$ volume, given an adequate dose.	false
+95a3787ae8c256915ad5be5072a7302f9ecc0b0a	The residual @PHENOTYPICFEATURE$ may then be treated with @DISEASE$.	false
+e35e19fcaad539e1c2dd2b67a615f3f26e6523ee	We report outcomes of patients with large benign intracranial @PHENOTYPICFEATURE$ treated with @DISEASE$.	false
+cbc90094dd4c8e6aa3c286be34bc92b87a4b718f	@DISEASE$ offered superior local @PHENOTYPICFEATURE$ control compared to EBRT.	false
+05beb52813cd643eb9b2887f4899e4bde98ea982	We report for the first time the association of specific anomalies of the spine, elbows, hands and feet, and @PHENOTYPICFEATURE$ in @DISEASE$ with severe H19 hypomethylation.	false
+d5fc27b9b909a600ddeb5628199d8818b701dfd3	The objective here was to validate a new simplified radiographic score (@DISEASE$) for evaluating radiographic progression in patients with early @PHENOTYPICFEATURE$.	false
+80e0cb0bdd39ecae042a832eaee339aecbce2252	@DISEASE$ targets individual @PHENOTYPICFEATURE$ with large dosages of radiation.	false
+9d55926cb4e5e082fe219b264d5e0e0e997fcec6	@DISEASE$ is a rare autosomal recessive disorder characterized by flexion joint and digit @PHENOTYPICFEATURE$, skin webbing, cleft palate, deformity of spine and cervical spine fusion.	false
+e85d1fc7bed1a5f7ed539ffb83addb13fb340405	We report on 2 sisters with an @DISEASE$, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external @PHENOTYPICFEATURE$.	false
+10db3420b7f13cd43e46f4044172d67045865f85	We report on 2 sisters with an @DISEASE$, type Escobar, consisting of multiple pterygia with severe @PHENOTYPICFEATURE$, short stature, and minor facial and external genital anomalies.	false
+e071e73d633c1d34a552b15f338df479c1b4c929	In addition to the clinical characteristics of @DISEASE$, including an anomalous facial expression, multiple joint contractures, multiple pterygia and a short stature, two female siblings developed proximal dominant @PHENOTYPICFEATURE$ from birth and slowly progressive scoliosis.	false
+30317188adc49175dcc92f2dcb328115755efb07	@DISEASE$ is a form of arthrogryposis multiplex congenita and features @PHENOTYPICFEATURE$, pterygia, and respiratory distress.	false
+922c1a630f68d63f4b649ea751fd1f604c32c90d	The aim of this paper is twofold: first, to illustrate that the absence of popliteal webbing is not a sufficient reason to exclude @DISEASE$ in patients with multiple @PHENOTYPICFEATURE$ and second, dysmorphic facial features and the presence of certain radiological abnormalities might be considered baseline diagnostic tools in favor of this syndromic entity.	false
+9c788bd1328fe35ef3ea15b68aa03f9a36e6f9f4	@DISEASE$ is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint @PHENOTYPICFEATURE$, pterygium in the eyes, cleft palate, decreased lung capacity, genital abnormalities, and spinal deformity.	false
+90dbf1c9a1e1cba7c322f6cfe806f26b00726f0f	@DISEASE$ is a rare autosomal recessive disorder which is characterized by growth retardation, axillary, antecubital, popliteal digital, and intercrural joint flexion contracture, pterygium in the eyes, cleft palate, decreased lung capacity, @PHENOTYPICFEATURE$, and spinal deformity.	false
+4fe9b594b720e0a0c7332a1e1609af475889719a	@DISEASE$ or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving @PHENOTYPICFEATURE$.	false
+9dba509b1f4f40ca458842a1892b36abc654c95e	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (@DISEASE$) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or deafness with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with @PHENOTYPICFEATURE$, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+62dbae9321f4016233f7f668bdf922f854c4e2b5	We suggest a possible classification of mitochondrial diseases according to the kind of mt DNA mutations: structural mitochondrial gene mutation as in LHON (@DISEASE$) and NARP (Neurogenic muscle weakness, Ataxia and Retinitis Pigmentosa) as well as some cases of Leigh's syndrome; transfer RNA and ribosomal RNA mitochondrial gene mutation as in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes) or MERRF (Myoclonic Epilepsy with Ragged Red Fibers) or @PHENOTYPICFEATURE$ with aminoglycoside; structural with transfer RNA mitochondrial gene mutations as observed in large-scale deletions or duplications in Kearns-Sayre syndrome, Pearson's syndrome, diabetes mellitus with deafness, and CPEO (Chronic Progressive External Ophtalmoplegia).	false
+14566ef8e6b4f2d09898acd3b394cbffdc11c051	They range from lesions of single tissues or structures, such as the optic nerve in @DISEASE$ or the cochlea in maternally inherited nonsyndromic @PHENOTYPICFEATURE$, to more widespread lesions including myopathies, encephalomyopathies, cardiopathies, or complex multisystem syndromes.	false
+760f9415247022a82ce75f7bd8d9cd4122895085	Several neuro-ophthalmological diseases have recently been studied in this way; including @DISEASE$ and other mitochondrial diseases, autosomal dominant (Kjer) optic atrophy, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and @PHENOTYPICFEATURE$), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: aniridia and Waardenburg's syndrome.	false
+d5334c528b2526e2c03019a1b01a49d3fc8cf0da	The association of @DISEASE$ (LHON) and left ventricular non-compaction in the absence of other neurologic or @PHENOTYPICFEATURE$ has not been reported.	false
+80b64bb255d164b30d482a2647370d6e56d562f3	The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS); A8344G and T8356C for Myoclonus Epilepsy and Rag-Red Fibers (MERRF); G11778A, G3460A and T14484C for @DISEASE$ (LHON); T8993G/C and T9176G for Leigh syndrome; A1555G for @PHENOTYPICFEATURE$ syndrome; G4298A, T10010C, T14728C and T14709C for neuromuscular syndrome.	false
+0941c46cd935bc40c529f67a851bfadfd6b5df42	We will consider mtDNA based syndromes such as @DISEASE$/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).	false
+588b2bdf1fd98e7c614ab21d9aa783f4781028f7	They range from lesions of single tissues or structures, such as the optic nerve in @DISEASE$, or the cochlea in maternally-inherited non-syndromic @PHENOTYPICFEATURE$, to more widespread lesions including myopathies, encephalomyopathies, cardiomyopathies, or complex multisystem syndromes.	false
+778d128757c23d22131f2ae087c1d36633d36873	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, @PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+f00e8d3490f35a1bb58a7a112ca2ab29627ea535	Four siblings with a syndrome consisting of encephalomyopathy with @PHENOTYPICFEATURE$, optic nerve atrophy, and cardiac involvement had the 11778G>A mutation in MTND4, previously associated with @DISEASE$.	false
+21b8089468dd7e2ed6bf47a161dbe995bd353a46	@DISEASE$ is a rare, recessive @PHENOTYPICFEATURE$ characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+babad0a873e5e0010daea7d7ee5e1d4544e914ae	@DISEASE$ (SD) is an autosomal recessive @PHENOTYPICFEATURE$ of the spondyloepimetaphyseal dysplasia (SEMD) type.	false
+f7d67d10920577e02dcc80b9280c934b66a10c32	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio.	false
+17aa918c206781fc18eae9bdebb2b7754a86668c	Bi-allelic Variants in TONSL Cause @DISEASE$ and a Spectrum of @PHENOTYPICFEATURE$ Phenotypes.	false
+5516e26f25969b8f866471374800d0e70dc76064	These children appear to have a distinct variant of @DISEASE$ with infantile @PHENOTYPICFEATURE$, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.	false
+817cd2605e41bcbebc0dbdd209156c38c13c19f1	@DISEASE$ with @PHENOTYPICFEATURE$, mental retardation, and skin lesions: five cases.	false
+eda47532f9368b82d4d09cbb90a9043253d3826e	Familial dysautonomia (Riley-Day syndrome) is an @DISEASE$ (HSAN type III), expressed at birth, that is associated with reduced @PHENOTYPICFEATURE$ and temperature sensibilities and absent baroreflexes, causing orthostatic hypotension as well as labile blood pressure that increases markedly during emotional excitement.	false
+93e2c5da42ed1927ecf039725eee3ace478bbb0a	Several genetic diseases of unknown etiology have been mapped to this region, including @DISEASE$ type 1, self-healing squamous epithelioma, split-hand/@PHENOTYPICFEATURE$ type 1, and familial dilated cardiomyopathy.	false
+17896603d66cf56334caea9bbe1df42f7b04f903	@DISEASE$ with severe @PHENOTYPICFEATURE$ in a patient with bladder cancer and B-cell lymphoma.	false
+62c13b85b079314d5473811b6e5474fe2a1817bd	There is a high risk of recurrence of the @PHENOTYPICFEATURE$ during infancy, particularly if hydrops was documented during the prenatal period or if @DISEASE$ is diagnosed.	false
+0d22ed33886216c16c86225dfb10a11cfd049772	@PHENOTYPICFEATURE$ surgery was initiated in 1968 with the first successful division of an accessory AV connection for the @DISEASE$.	false
+77a56aa677944c2a509ab857b875ae1c6e120b45	Two patients had @PHENOTYPICFEATURE$: one patient died suddenly, and one patient had the @DISEASE$.	false
+0d22ed33886216c16c86225dfb10a11cfd049772	@PHENOTYPICFEATURE$ surgery was initiated in 1968 with the first successful division of an accessory AV connection for the @DISEASE$.	false
+e68bb8db3c71a8b353da01d6bb40d0b19188e0b9	This case highlights @PHENOTYPICFEATURE$ caused by @DISEASE$ syndrome as a clinical manifestation of the heart in ssSSc.	false
+0d22ed33886216c16c86225dfb10a11cfd049772	@PHENOTYPICFEATURE$ surgery was initiated in 1968 with the first successful division of an accessory AV connection for the @DISEASE$.	false
+83f627139ca9fb5c8e04b78fc358c52de3e35737	No patient had a history of @PHENOTYPICFEATURE$ or had @DISEASE$ on the ECG.	false
+4b8c1e70430d66dbcec86d28fd2e640f28d91721	[The problem of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+a1683a5466d7b6e0c8b2e86c376ac1e9472316a9	However, several case reports demonstrated malignant @PHENOTYPICFEATURE$ or sudden cardiac death as @DISEASE$ syndrome's first presentation.	false
+013e7cf4df1e876ddb51ad1e00e4278b2361d776	[@DISEASE$ with ventricular parasystolic @PHENOTYPICFEATURE$].	false
+1d601dbfdd8193e3a9c5774061534fe26fa2c67c	This finding could contribute to the higher risk of proximal @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+b17ddb17c17aa009b93219580a9746da8265c5df	A "biphasic @PHENOTYPICFEATURE$" (@DISEASE$ with an NSCLC component) was observed in 77 patients (52%).	false
+ea6cbdbc44089cdb79ba4c7b84419d665cdd564f	Multivariate RPA revealed that @PHENOTYPICFEATURE$ size, presence of metastatic disease, and @DISEASE$ were significantly associated with OS.	false
+97b031ae12b28e1bddadf670f5374e09f6a8495b	This study demonstrates not only that patients with PSC and UC have a significantly higher risk of developing colorectal @PHENOTYPICFEATURE$ compared with patients having UC only, but also that patients with @DISEASE$ and UC having colorectal neoplasia are more prone to develop cholangiocarcinoma.	false
+09dc3327bea508742c2222c3d4eb7e0f22cf8536	This study demonstrates not only that patients with @DISEASE$ and UC have a significantly higher risk of developing colorectal neoplasia compared with patients having UC only, but also that patients with PSC and UC having colorectal @PHENOTYPICFEATURE$ are more prone to develop cholangiocarcinoma.	false
+21c28d9a78e43f9f17642b355ff98db440616a04	This study demonstrates not only that patients with @DISEASE$ and UC have a significantly higher risk of developing colorectal @PHENOTYPICFEATURE$ compared with patients having UC only, but also that patients with PSC and UC having colorectal neoplasia are more prone to develop cholangiocarcinoma.	false
+e1ded3ddac78cb46a78ff5b05686f33fa728dc59	This study demonstrates not only that patients with PSC and UC have a significantly higher risk of developing colorectal neoplasia compared with patients having UC only, but also that patients with @DISEASE$ and UC having colorectal @PHENOTYPICFEATURE$ are more prone to develop cholangiocarcinoma.	false
+4a866dd01b1d5de619b9b5f9715919ef8d7fa96a	In addition, @PHENOTYPICFEATURE$ in individuals with @DISEASE$ were significantly more advanced.	false
+4de2ad7a473d65dec3fddf0703be5233a2e7335f	Screening @DISEASE$ and biliary dysplasia with endoscopic retrograde cholangiography and brush cytology: risk factors for biliary @PHENOTYPICFEATURE$.	false
+2d7702e654084c49e00a2e98273b2b2ddcba69e3	Liver disease in @DISEASE$-inflammatory bowel disease in Asian children has @PHENOTYPICFEATURE$.	false
+f1bd95caaaa640ba1c57527d69667d2999ab0f57	Targeted next-generation sequencing (NGS) of 416 cancer-relevant genes was performed on 32 @DISEASE$ @PHENOTYPICFEATURE$.	false
+b66988ab420067e6bc60bfaff079d65295b8bf47	The aim of the study was to examine the temporal trends in colon @PHENOTYPICFEATURE$ in patients with @DISEASE$ and UC.	false
+094701b4d41815d044b1f338cb20593f66f32c6d	IBD/@DISEASE$ patients remain at an increased risk of colon @PHENOTYPICFEATURE$ after LT.	false
+5c8f1229cc66e92743c36ad7811b69abee790ebe	A previous study in @DISEASE$ (PROMM/DM-2) and myotonic dystrophy type 1 (DM-1) using brain positron emission tomography demonstrated a reduced cerebral blood flow in the frontal and temporal regions associated with @PHENOTYPICFEATURE$.	false
+1d622a6207d4731d4a1a45d502a41ea7b680d773	We present the first reported case of speckled @DISEASE$ syndrome presenting in a young child with @PHENOTYPICFEATURE$ and motor deficits affecting muscles along the same distribution as the speckled lentiginous nevus.	false
+79657e248d2a10a18eeaeeb0859c5e30df295f52	This case can be categorized as a typical example of speckled @DISEASE$ syndrome, a recently recognized phenotype characterized by a speckled lentiginous nevus of the papular type and ipsilateral neurological abnormalities in the form of dysesthesia, muscular weakness or @PHENOTYPICFEATURE$.	false
+15d698ba764222c0dfaf4a7eee8f2ffa0999ef71	Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including @PHENOTYPICFEATURE$ type E, Eiken syndrome, @DISEASE$ and Blomstrand type chondrodysplasia.	false
+5ffb46cd73a98d70e994ce1ff43b491ba5f113a8	The association between @DISEASE$ and hypothyroidism has been reported but the combination of @PHENOTYPICFEATURE$ and coagulopathy is unusual.	false
+d85679ba995cd146defe3e73a670c701d9219607	Additionally, various cardiovascular diseases that generate excessive high-shear stress in the blood stream, such as hypertrophic obstructive cardiomyopathy (HOCM), mitral regurgitation, pulmonary @PHENOTYPICFEATURE$, and some congenital heart diseases, and mechanical circulatory support systems, such as left ventricular assist device (LVAD), cause @DISEASE$.	false
+fca88152beb7ae0f796b5ba724a1bffba0d2fae7	In @DISEASE$ patients, all with MR findings of @PHENOTYPICFEATURE$ and diffuse white matter disease, NA/Cr decreased (white matter, -31.8%; gray matter, -22.3%),	false
+9e415739cd7ab216947892085e15d2a213313100	To further elucidate the @PHENOTYPICFEATURE$ phenotype, and identify the gene and mutation for autosomal dominant cataract (@DISEASE$) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13.	false
+36136bab1232fae8a7f4904757e8a72fe8c0b867	Autosomal-dominant cerebellar ataxia (@DISEASE$) type II is a neurodegenerative disorder presenting with cerebellar ataxia and @PHENOTYPICFEATURE$.	false
+eb7b5458cb238c75ca9127ea60e72429b409cdc1	Increasing WMH scores were associated with a higher frequency of hypertension, a greater WMH volume, more @PHENOTYPICFEATURE$, worse overall cognitive performance, and changes in @DISEASE$.	false
+1f1c8868e07062a330e1813bb4b72f952eb7ba1f	In @DISEASE$ type II, @PHENOTYPICFEATURE$ causes severe visual impairment.	false
+721b33e1d8144fc9914cef881e0dec86e8b4be73	To determine the different morphologies of autosomal dominant cataract (ADC), assess the intra- and interfamilial variation in @PHENOTYPICFEATURE$ morphology, and undertake a genetic linkage study to identify loci for genes causing @DISEASE$ and detect the underlying mutation.	false
+70050dc295372aa6cea0dee152bfb2fe9182c0fe	To determine the different morphologies of autosomal dominant cataract (@DISEASE$), assess the intra- and interfamilial variation in @PHENOTYPICFEATURE$ morphology, and undertake a genetic linkage study to identify loci for genes causing ADC and detect the underlying mutation.	false
+78c2bab916f3a267fd492b81195a642899b98bef	The aim of the study was to evaluate the performance of parameters obtained from diffusion-weighted imaging (DWI) with multiple b values in the detection of chronic brain damage in patients with type 2 diabetes.We enrolled 30 patients with or without abnormalities on brain magnetic resonance imaging (lacunar infarction, leukoaraiosis, and/or @PHENOTYPICFEATURE$) and 15 nondiabetic controls; obtained DWI parameters that included apparent diffusion coefficient (@DISEASE$), fast ADC (ADCfast), slow ADC (ADCslow), fraction of fast ADC (f), distributed diffusion coefficient (DDC), and stretched exponential (?); and performed receiver operating characteristic (ROC) analysis to evaluate the performance of parameters for the detection of chronic brain damage.The parameters ADC, ADCslow, f, and DDC were increased, whereas parameters ADCfast and ? were decreased in type 2 diabetes patients compared with controls without diabetes.	false
+0046aafb3bebfc2c2fc172fa9c7f656c61040848	Patients with Patau's syndrome (@DISEASE$) have multiple craniofacial, cardiac, neurological and @PHENOTYPICFEATURE$ with very less life expectancy.	false
+07aeb5d7d159654a2666f6eceee2e847b8bac06a	Patients with @DISEASE$ (Trisomy 13) have multiple craniofacial, cardiac, neurological and @PHENOTYPICFEATURE$ with very less life expectancy.	false
+4b5e0f9a710b9752927dd658431419ca315b9ed3	However, for @DISEASE$ (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the @PHENOTYPICFEATURE$ profile has not been well characterized.	false
+79f5689311dff214d6044ec8507469fa7f814e81	We describe a patient with @DISEASE$ who had severe, intractable @PHENOTYPICFEATURE$.	false
+c5f3b048779e6edc3a0235d70f046407dda3ed49	We have proposed a primary classification of skin disorders, regarding thyroid involvement, into two main groups: 1) dermopathies associated with thyroid abnormalities, mainly with autoimmune thyroid diseases, like melasma, vitiligo, Sjogren's syndrome, alopecia, idiopathic hirsutism, pre-menstrual acne, bullous diseases, connective tissue diseases, hamartoma syndrome, atopy, leprosy and @DISEASE$; and 2) dermopathies depending on the nature of the thyroid disorder, in which the evolution and outcome of the skin disorder depend on the thyroidal treatment in most cases, such as trophism and skin blood flow, myxedema, alopecia, onychodystrophy, hypo- and hyperhidrosis, xanthomas, intraepidermal bullae, carotenodermia, pruritus, flushing, pyodermitis, @PHENOTYPICFEATURE$, ecchymosis, etc.	false
+bff4a593142edea06eae32f40a67b2f83add0581	Acute GVHD (seven cases: four SCID, two CID, and one @DISEASE$) was characterized by lymphocytes around large to medium ducts, damage to ductal epithelium (focal necrosis, reactive nuclear changes, inspissated secretions in duct lumens), and periductal @PHENOTYPICFEATURE$.	false
+4289226969917b451982dd0eda816d045a5f29aa	Two patients who had a deletion at the locus D22S75 but not at DGCR680 did not exhibit any @DISEASE$-type @PHENOTYPICFEATURE$.	false
+e761b1e1910e295b733b16d98be5c4842448b182	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+3ba1dbf953a6a66ff1e7e6d5d527d5d40b8da893	DS) is characterized by cardiac defects, @PHENOTYPICFEATURE$ features, thymic hypoplasia, cleft palate, and hypocalcemia, including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face (CTAF) syndrome.	false
+74824528fc96b1273e460417f668f558e0f44a23	The @DISEASE$ may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, @PHENOTYPICFEATURE$ and congenital aphakia.	false
+843c4a8ecf2ec7dd98f74abe5ab9db69e3674d86	Moreover, Tbx1-/- mice displayed a wide range of developmental anomalies encompassing almost all of the common @DISEASE$/VCFS features, including hypoplasia of the thymus and parathyroid glands, cardiac outflow tract abnormalities, @PHENOTYPICFEATURE$ structures, abnormal vertebrae and cleft palate.	false
+c65bb7a694eea7c87ecb8a989c91c7b9a11e9034	The 22q11.2 microdeletion is associated with a wide range of overlapping phenotypes including DiGeorge syndrome (@DISEASE$), velocardiofacial syndrome (VCFS), conotruncal @PHENOTYPICFEATURE$, and sporadic or familial cardiac defect.	false
+7c78a353248bc2ebf2b9a8b20de5d6f767e69b92	The 22q11.2 microdeletion is associated with a wide range of overlapping phenotypes including @DISEASE$ (DGS), velocardiofacial syndrome (VCFS), conotruncal @PHENOTYPICFEATURE$, and sporadic or familial cardiac defect.	false
+a649256cb6aa5f55630677b87a23692fc765ed20	IAA type B has been associated with @DISEASE$ (DGS), which includes conotruncal heart defects, T-cell immunodeficiency, hypocalcemia, and @PHENOTYPICFEATURE$.	false
+6f347781ca97716a91d34ed38a96278b07f02cad	IAA type B has been associated with DiGeorge syndrome (@DISEASE$), which includes conotruncal heart defects, T-cell immunodeficiency, hypocalcemia, and @PHENOTYPICFEATURE$.	false
+41e478a8c0f5396e6528c12a919a197b0c7f0288	The authors pointed out the necessity of @DISEASE$ suspicion in all patient presenting with heart defects, @PHENOTYPICFEATURE$ (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.	false
+850f06476b8812cd6ed6e4329e2a46e1db718787	The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, @PHENOTYPICFEATURE$ (associated or not with hypocalcemia), and immunological disorders because although frequency of @DISEASE$ is high, few patients with a confirmed diagnosis are followed up.	false
+d12d14a697a124e923eb5d52ab22090619d5d389	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, @PHENOTYPICFEATURE$, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+cf18ae61a5f4571426cbfd31608b988d6cff8cff	GAMT deficiency is an inherited autosomal recessive trait that was the first among @DISEASE$ to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, @PHENOTYPICFEATURE$, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs.	false
+ddb98765e9ec0deca1b37b7998d00310fb20aeb3	Defects arose following excision of @PHENOTYPICFEATURE$ contracture, arterio-venous malformation, @DISEASE$, squamous cell carcinoma, and Fournier's gangrene, respectively.	false
+60ddf689eb185acf30e3bd41c16c1a5f1e1c9267	Aggressive behavior in patients with attention-deficit/hyperactivity disorder, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+c97c4929029b1c314571c5111c95b8ca7b9ccadf	Sex distribution is equal, apart from @DISEASE$ and @PHENOTYPICFEATURE$, which are more frequent in males.	false
+83060f3750017ae03ccf4d0604842b4a9ba75ae0	The authors review follow-up data on children diagnosed as having attention deficit disorder, pervasive developmental disorder, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a105b1c5e17bc79fc3dc0094900c2f01365f3635	The authors review follow-up data on children diagnosed as having attention deficit disorder, @PHENOTYPICFEATURE$, autism, and @DISEASE$.	false
+22c8c2e861f405b6c60a9307761b86b54dbb7eeb	In young people with @DISEASE$ and @PHENOTYPICFEATURE$, findings have emphasized the role of non-shared environmental factors.	false
+4bbc86d805450b0097c7dcda23038949850e53b4	[Examining the comorbidity of attention deficit and @PHENOTYPICFEATURE$ disorder and @DISEASE$ in a population-based twin sample].	false
+0f2ae4990c3949a1f806f4a7d73b8ff5b544cc86	The atypical antipsychotics are increasingly being used in children and adolescents with a variety of different psychiatric diagnoses, including schizophrenia, bipolar disorder, autism/@PHENOTYPICFEATURE$, @DISEASE$, depression, anxiety disorders, tic disorders, delirium, and eating disorders.	false
+6af73271071f2743e3dbca8e855f5de3bb84f5d4	The atypical antipsychotics are increasingly being used in children and adolescents with a variety of different psychiatric diagnoses, including schizophrenia, bipolar disorder, @PHENOTYPICFEATURE$/pervasive developmental disorders, @DISEASE$, depression, anxiety disorders, tic disorders, delirium, and eating disorders.	false
+87962ff390c1670a149edfc8c2f2c188f9b1a688	Life History of Aggression scores are predicted by childhood @PHENOTYPICFEATURE$, @DISEASE$, adult substance abuse, and low cooperativeness in adult psychiatric patients.	false
+ec09047720a26c3c01e9e368b634c73a5a681c2c	Differential diagnosis of ADHD should be considered in disorders associated with motor @PHENOTYPICFEATURE$, impulsivity, stress intolerance and @DISEASE$.	false
+5eb9c5f14cf23f73b292317927e12fa4435fc4e8	Prenatal and postnatal SHS exposure is also associated with increased rates of @DISEASE$ and attention deficit @PHENOTYPICFEATURE$.	false
+a39a2f56c09c3a325d94e4ea69e7c44a04daaae9	The areas used as examples comprise: @PHENOTYPICFEATURE$, hyperactivity/attention deficit syndromes, @DISEASE$, depressive conditions, genetic research, organic brain dysfunction, and psychosocial risk processes.	false
+e8f51836586a0acbc8be1deaac2ee0176a16d1f6	The areas used as examples comprise: autism, @PHENOTYPICFEATURE$/attention deficit syndromes, @DISEASE$, depressive conditions, genetic research, organic brain dysfunction, and psychosocial risk processes.	false
+7930d1c4f4c0a7687df5186397fe6c0620bb0860	Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ "plus"), neurotransmitter receptors (@DISEASE$), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (Unverricht-Lundborg disease).	false
+428e3ac8386554887362f00759bf90bdf6bbf26f	[A case of @DISEASE$ combined with oculocutaneous @PHENOTYPICFEATURE$].	false
+4550f9fd3546d56a8dc0f7f93b2cb523052475ce	Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with @DISEASE$ with no ocular features of @PHENOTYPICFEATURE$.	false
+1190bba67587e194d2e3b63238864fdb5bd25694	Oculocutaneous @PHENOTYPICFEATURE$ type 2 with a P gene missense mutation in a patient with @DISEASE$.	false
+090ba07e6632d573236d519985d99e6fe8b2a44e	Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous @PHENOTYPICFEATURE$ type 2 (OCA2) and Prader-Willi syndrome (PWS) or @DISEASE$ (AS).	false
+ca6b6ce5798eec7042aad0d60856b602d21557c9	The 15q11.2-q13.1 deletion contains genes critical for Prader-Willi syndrome, the @DISEASE$ causing genes UBE3A and ATP10A/C, and several non-imprinted genes: GABRB3 and GABRA5 (both encoding subunits of GABA A receptor), GOLGA6L2, HERC2 and OCA2 (associated with oculocutaneous @PHENOTYPICFEATURE$ II).	false
+95e02a5233ff096937990199be87dc368892ca55	Mutations of the P gene within the Angelman/Prader-Willi syndrome critical region at 15q11-q13 cause oculocutaneous albinism type 2. Comorbid oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$ were suspected and confirmed by cytogenetics.	false
+4d4fa58b8ae07b4f0588366685bf5486ab3879a2	Mutations of the P gene within the Angelman/Prader-Willi syndrome critical region at 15q11-q13 cause oculocutaneous @PHENOTYPICFEATURE$ type 2. Comorbid oculocutaneous albinism and @DISEASE$ were suspected and confirmed by cytogenetics.	false
+7bc71d9343bfad6f49678ce6728d8678a608ac44	The risk of epilepsy and @PHENOTYPICFEATURE$ in PWS is significantly lower than in @DISEASE$ and is associated with brain abnormalities.	false
+a6b23f55981bc04bafa1558691b2d61c647b57ee	Abnormalities of femoral neck version have been associated with a number of hip abnormalities in children, including slipped capital femoral epiphysis, proximal femoral focal deficiency, @PHENOTYPICFEATURE$, a deep acetabulum and, rarely, @DISEASE$.	false
+d67824ffb6aba17e4e3bc4ea1ee77c1d1648b090	Total hip arthroplasty (THA) is an effective procedure for @DISEASE$ (DDH); however, it is sometimes difficult to complete for severe cases because of femoral head dislocation, dysplasia of the acetabulum and the femur, disparity in limb length, soft tissue contraction, and @PHENOTYPICFEATURE$.	false
+207963c63525f557a8ee17ff8ad29aae3f6f5da8	One girl exhibited @DISEASE$ and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, @PHENOTYPICFEATURE$, patent ductus arteriosus, growth retardation, and borderline intellectual disability.	false
+9a873354ea3c6f36c45818c78da06e1784b3d362	Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, @PHENOTYPICFEATURE$ short stature, delayed language development, hypotonia, bilateral @DISEASE$ (DDH), large ears and triangular chin, caf? au lait spots.	false
+6fffa7b81848097c75c0532bea3d7788f22eb265	We describe a case of a 79-year-old man with @DISEASE$ (CLL) who presented with ataxia; falls; vision loss; and numerous mobile @PHENOTYPICFEATURE$ nodules on the chin, neck, scalp, and trunk.	false
+b3afb03aa2ed29662caba9ac67c7f74dc5111c50	Blood and/or bone marrow cells from patients with hematological malignancies, @DISEASE$ (CLL), chronic myeloid leukemia in blastic phase, acute lymphoid leukemia, acute myeloid leukemia, prolymphocytic leukemia, multiple myeloma and @PHENOTYPICFEATURE$, were incubated with Lonidamine at different concentrations (50, 100 and 160 micrograms/ml) for 1-2 h.	false
+24beda182f84619ee7ac2e1ef556346faf0e5b6c	We present a case of a 72-year-old man with a history of @DISEASE$ who presented with upper respiratory symptoms and multiple @PHENOTYPICFEATURE$ skin papules.	false
+c57bb0fa7c913dd698e0884dbac585a22a09d715	Cloning and sequence analysis of the VH and VL regions of an anti-myelin/DNA antibody from a patient with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+938c1d1bc98d26fe432cac16b0ab750f466c262d	Neither toxicity was observed in 481 @DISEASE$ patients treated with FAMP alone, by the same dose and schedule, suggesting that combination with Ara-C is important for the development of at least the @PHENOTYPICFEATURE$.	false
+f825e160dbbceacf772de206b5118d6d913c169d	We report the case of a 64-year-old woman treated with ibrutinib for a @DISEASE$ with 17p deletion, who developed several @PHENOTYPICFEATURE$, painful, and papulo-nodular skin lesions in the limbs, neck, and face.	false
+f01d60b38e31d08ccd02988b71ade39498ccd9ae	Patients were divided into two separate groups according to their diagnosis and comorbidities; these comorbidities included epidermodysplasia verruciformis, xeroderma pigmentosum, @PHENOTYPICFEATURE$, basal cell nevus syndrome, Brooke-Spiegler syndrome, HIV, @DISEASE$, B-cell lymphoma, and kidney transplantation.	false
+f2f65f5922dea1784d75442896eb2ad667c7edda	A 65-year-old male with @PHENOTYPICFEATURE$ and @DISEASE$ presented with erythema and edema of the left foot.	false
+de48d0d5b46fbcd73b4654443c5b0db703ee3c09	We have cloned and determined the nucleotide sequence of the Ig VH and VL region genes of an IgM kappa mAb that binds to denatured DNA and myelin from a patient (POP) with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+615848d229952b542ef7322c3b1292d19b84600e	A cDNA clone that encodes the heavy chain variable region (VH) of an IgM M-protein with anti-myelin-associated glycoprotein (MAG) activity secreted by @DISEASE$ cells (B-C11) from a patient with @PHENOTYPICFEATURE$ was cloned and sequenced.	false
+26d2f58cc7eda074afadc98acdbfb2decfdd7bc8	This study of enzyme deficiencies and hematologic aberrations in metabolic diseases includes disorders of amino acidopathies, lipid disease, @PHENOTYPICFEATURE$, carbohydrates, and @DISEASE$.	false
+e12106c1960abd3b74fe4ca4c6f172963047f30f	We describe 2 children with @DISEASE$ (MPS) who were referred for significant @PHENOTYPICFEATURE$.	false
+5b3b7135f37c671288a92d509e4c9208f03e620b	@DISEASE$ still causes severe visual @PHENOTYPICFEATURE$ in Sweden, resulting in 1 affected infant per 1000 very preterm births.	false
+12d4af016e9ff82e337aee185cb07355fdaca81b	Other significant risk factors associated with @DISEASE$ were: small for GA, respiratory distress syndrome, requirement for ventilation, duration of ventilation or oxygen therapy, bronchopulmonary dysplasia, hyperglycemia, late onset sepsis (clinical or proven), necrotizing enterocolitis, patent ductus arteriosus, @PHENOTYPICFEATURE$, and number of blood transfusions.	false
+c13933219d46934af6d16ffc646a72571814f84b	The condition has only been reported once previously (Lohr et al., American Journal of Human Genetics, 2010, 86, 447-453) in 10 children from an Old Order Amish family found to have a homozygous frameshift truncating variant in association with @PHENOTYPICFEATURE$, chronic lung disease, motor and cognitive delay, and variable autoimmune diseases including @DISEASE$, enteropathy, hypothyroidism, and diabetes.	false
+ee5a5c271c2bbf48e535a392685961fa66f58553	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, @PHENOTYPICFEATURE$, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and @DISEASE$.	false
+dc24258a28e250cc1785a4f9e67a8404ceb5bcc3	In addition to the classic triad of chronic candidiasis, hypoparathyoidism and autoimmune adrenocortical insufficiency, she also has vitiligo, intestinal malabsorption, @DISEASE$, autoimmune hypothyroidism, myositis, myalgias, chronic fatigue, and @PHENOTYPICFEATURE$.	false
+007ca79baa2d94f346c175168a549c605cde72a8	Dextroamphetamine sulfate was used to treat @PHENOTYPICFEATURE$, myalgia, and chronic fatigue associated with @DISEASE$ (AIH).	false
+ba69ad8c8067f83a82a8a23c6d4cd173d6d0ec1f	Treatment with pegylated arginine deiminase (ADI-PEG 20) selectively eliminates arginine from the circulation and has shown some efficacy against @DISEASE$ @PHENOTYPICFEATURE$ including small cell lung cancer (SCLC).	false
+821a254b0ee35b52340ad05d5c1ec6bc6c700ca4	On the basis of these results, we hypothesize that HuArg I [Co]-PEG5000, particularly with supplemental l-citrulline, may be an attractive therapeutic agent for @DISEASE$ @PHENOTYPICFEATURE$.	false
+00b1fbb54548d6d4628d4478c8c115cf57dfd539	The successful use of the arginine-depleting enzyme arginine deiminase (ADI) to treat @DISEASE$ @PHENOTYPICFEATURE$ has opened up new possibilities for effective cancer therapy.	false
+84ba01d218145fe36043d6f3e3cd2b89734850e4	Despite almost all pre-treatment @PHENOTYPICFEATURE$ samples showing @DISEASE$, the best response among 21 evaluable patients was complete response (CR) in 2 (9.5%) and stable disease in 7 (33.3%),	false
+fdf55ea8bf9050a2b04f92ef4adcb74e1552972e	On the basis of these results, we hypothesize that HuArgI (Co)-PEG5000 in combination with L-citrulline supplementation may be an attractive therapeutic agent for some @DISEASE$ @PHENOTYPICFEATURE$.	false
+21cac154e6814009cb1fd40c4e64e830b2371924	These data indicated that immunohistochemical detection of ASS may prove an effective means for determining @DISEASE$ in malignant human @PHENOTYPICFEATURE$ and for identifying patients most likely to respond to arginine deprivation therapy.	false
+d88e26b9ce2c089678a64987343b338dfbbe8631	They found that the incidence of @DISEASE$ varied greatly with the @PHENOTYPICFEATURE$ type and tissue of origin.	false
+61b0c6d99fb67180fce78cf979092ecd8583cdc9	CCHD, anencephaly, @PHENOTYPICFEATURE$, congenial diaphragmatic hernia (CDH), omphalocele, gastroschisis, limb defects, cleft lip with or without cleft palate (CL/P) and @DISEASE$ were evaluated.	false
+81178a8d55e710fe8bbbe48cc4bf80cebc0eebe6	The incidence of abnormalities first seen postnatally was 0.1% and the most common were @DISEASE$, polydactyly or @PHENOTYPICFEATURE$ and ambiguous genitalia or hypospadias; prenatal examination of the genitalia was not a compulsory part of the protocol.	false
+02afb26589c44ff0360efe091164bccaa1da00d0	Anencephalus was commoner amongst females than males; talipes and @DISEASE$ were commoner amongst Maoris, anencephalus and @PHENOTYPICFEATURE$ amongst non-Maoris.	false
+d192545bb10c0cbc9a5cc33fe1ec2488d24dac53	The present patient appeared to have an @DISEASE$ and Chiari 1 malformation with co-existing functional and behavioral disorders (i.e., speech delay, @PHENOTYPICFEATURE$, and deviant electroencephalography [EEG]).	false
+f15a982a17accbdcb7e82e58e87541b22c042196	Many of the patients identified as having @PHENOTYPICFEATURE$ in this sample have the diagnosis of @DISEASE$ (46.8%).	false
+dfddb7e3c884e81e61fa2111d297f0526665a01f	The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral @PHENOTYPICFEATURE$ of the fingers and toes and @DISEASE$ was delivered at 37 weeks.	false
+dce50d793a39da712cd42d603696de8b9a1efe86	To present a case of osseointegrated hearing device placement in a child with @PHENOTYPICFEATURE$ related to manifestations of @DISEASE$.	false
+ecce21abfea859e5251d543e328da81c1ccbe28f	A boy with a lipid storage disease characterized by @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family.	false
+34753d5936269bd5e39d534ead452c0944b5bdf2	A 5-year-old female patient with @DISEASE$ resulting in @PHENOTYPICFEATURE$ because of bilateral external auditory canal stenosis and tympanic membrane blunting.	false
+8df555f3eaa5ceef0282a42a3e24b1bd3fd0956a	Bacterial cholangitis (BC) is a common complication in patients with @DISEASE$ (BA) and is characterized by @PHENOTYPICFEATURE$, acholic stools and positive blood cultures.	false
+630981d56dc66781c1851a3ab0e307f5dcac1b57	They are certain inherited disorders of dyslipoproteinemia (familial hypercholesterolemia, familial combined @PHENOTYPICFEATURE$, hyperapobetalipoproteinemia, and hypoalphalipoproteinemia) and secondary causes of hyperlipidemia (@DISEASE$, glycogen storage diseases, hypothyroidism, diabetes mellitus and nephrotic syndrome, etc).(ABSTRACT	false
+711aa31ff3badd31835f03afda1907bade9f9627	The age of epilepsy onset and rate of focal seizures evolving to @PHENOTYPICFEATURE$ in KABUK1 were also higher than previously reported in patients with clinically diagnosed @DISEASE$.	false
+b6bf2c3ce4f7b8b9a71824fd9c4bed275a09b5b2	Based on these sonographic findings, skeletal dysplasia and @PHENOTYPICFEATURE$ were diagnosed, the most likely condition being congenital @DISEASE$.	false
+880107f01d06d0a357ba737cf815ecb823220fa5	Based on these sonographic findings, @PHENOTYPICFEATURE$ and short-limb dwarfism were diagnosed, the most likely condition being congenital @DISEASE$.	false
+89dce462c117cc765324c85894c690d2d100aca6	In a context of @PHENOTYPICFEATURE$, the search for these specific osseous spurs orient strongly toward the diagnosis of lethal @DISEASE$.	false
+869bf82376cb7869d78605f3996de2d2f7b3b43c	We present here the prenatal images of a lethal form of @DISEASE$, diagnosed precociously because of specific osseous spurs in a context of recurrent @PHENOTYPICFEATURE$.	false
+58d831a7097348edaec93b563da85c1c709b503b	No significant correlation was noted between DNA diploid patterns and stage, tumor size, grade, or histotype, but @DISEASE$ diploid @PHENOTYPICFEATURE$ had a significantly higher risk of nodal metastasis.	false
+8620a4e6ef57695b99fd38317f547cb6621830d5	No significant correlation was noted between DNA diploid patterns and stage, @PHENOTYPICFEATURE$ size, grade, or histotype, but @DISEASE$ diploid tumors had a significantly higher risk of nodal metastasis.	false
+f9caaa3bc37ee3106c3dec6dc990bd403ba2b4c6	Hypophosphatasia (@DISEASE$) is a rare inherited @PHENOTYPICFEATURE$ due to loss of function mutations in the ALPL gene.	false
+372016c61b0c834dfdee8aa543b963345a01aed0	@DISEASE$ (HPP) is a rare inherited @PHENOTYPICFEATURE$ due to loss of function mutations in the ALPL gene.	false
+0ce00e6fe5077896c85b8d81befb91ea38176d04	Congenital @DISEASE$ is a rare fatal @PHENOTYPICFEATURE$.	false
+4959518f5390b2ea6af681e2fa005324deab1459	Cellular origin of human pancreatic polypeptide (@DISEASE$) in endocrine @PHENOTYPICFEATURE$ of the pancreas.	false
+8fc3c3d702c35e777e63bce1544b2e3c8aaf67ee	TBF and @DISEASE$ in the @PHENOTYPICFEATURE$ area were lower than in the non-tumour area (P < 0.05).	false
+cf8f6ac9bd2111b3e982ce3ddb7b56f8dca91ea1	Lethal forms of @DISEASE$ include @PHENOTYPICFEATURE$ with lack of ossification, especially on the vertebral bodies, very slender ribs and clavicles, and bowed, short lower extremities, with a bifid aspect of the diaphyses.	false
+1f7b12c14f90f90a5600340acdab64494dcf857f	Human pancreatic polypeptide (@DISEASE$) immunoreactivity in an infiltrating endocrine @PHENOTYPICFEATURE$ of the papilla of Vater with unusual morphology.	false
+48a9290e1ba15d1cf8aeec2b94901e2fa466b7cf	Grade 4 adverse events occurred in 37.9% of patients (4x @DISEASE$x gastrointestinal, 2x @PHENOTYPICFEATURE$, 1x sepsis, leucopenia, hepatopathy and anaemia, respectively).	false
+f27e7de5d3374980355c4feb3bb6cf6cdd799008	Periconceptional supplementation of multivitamins that include folic acid have been shown to prevent several birth defects, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+afc538cec41c2b69c9739674b078f7d265dafc86	Data were derived from a case-control study of fetuses and liveborn infants with @DISEASE$, @PHENOTYPICFEATURE$, conotruncal defects, or limb anomalies, among 1987-1989 California births and fetal deaths.	false
+5443978716061b7d0458a66daa93221dfc223c18	The most prevalent conditions include congenital heart defects, @DISEASE$, Down syndrome, and @PHENOTYPICFEATURE$.	false
+5326734f8c8e691982d8a71dfcaca456b5a7a15c	p63 sterile-?-motif domain, AEC (ankyloblepharon-ectodermal dysplasia-clefting)-associated mutations are associated with a high prevalence of @DISEASE$ disorders, which are less common in EEC (@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting) patients with DNA binding domain p63 mutations.	false
+dbdc864b3082440d0d8f3f00b61534ff89a79b94	There is an association between maternal occupational exposure to solvents and congenital anomalies in the offspring, including @PHENOTYPICFEATURE$, congenital heart defects and @DISEASE$.	false
+0a7ae5de958ab77e7ccfc653a22f87e44ba4a474	Women with pre-pregnancy obesity (body mass index 30+) had a twofold increased odds of having an infant with @PHENOTYPICFEATURE$, conotruncal heart defects, @DISEASE$ and limb reduction defects and 30-40% increase in heart defects generally and urinary tract defects.	false
+f20929f44b8a6b67d5059644dbb6b56771cc44ab	It provides comprehensive data on congenital anomalies in Canada, focussing on 6 categories of congenital anomalies: Down syndrome, @PHENOTYPICFEATURE$, congenital heart defects, @DISEASE$, limb deficiency defects and gastroschisis.	false
+e9bd8e2a4bedf1f3e8ca5586426d235dc2780642	Obesity (independent of diabetes) among gravidae poses unique risks that extend toward the fetus, with several large population-based analyses demonstrating independent increased risks for fetal malformations including @PHENOTYPICFEATURE$, cardiac anomalies, and @DISEASE$, as well as stillbirth and macrosomia.	false
+bcac42367109663727e27b3544bb320aeb434357	@DISEASE$ is a disease with variable expression and is characterized by a pattern of abnormal prenatal development characterized by facial dysmorphia, @PHENOTYPICFEATURE$ and severe birth defects (heart, brain) that generate an increased in utero and perinatal mortality.	false
+2a587d8d1120ccc9249a90cf02938d76586edb4c	The Pelger-Huet anomaly: a new familial association with @PHENOTYPICFEATURE$ and @DISEASE$ syndrome.	false
+c00b7359c5a744de3dda766f9e4eef99a77e364e	The common features of @DISEASE$ including the clinical triad (microphthalmia, cleft lip/palate, and @PHENOTYPICFEATURE$) and non-cyanotic heart defects were always found in our series.	false
+a86a5a480cb3a7b19fad5df5fe2936ba242e3112	In conclusion, overt hypothyroidism may be associated by cardiac @DISEASE$ affecting both electrophysiology and contractility, observations that underscore the necessity of thyroid testing in different phenotypes of @PHENOTYPICFEATURE$.	false
+6d569c53a113087ffa9c32bb9359fd7843dc15e5	@DISEASE$ heart with @PHENOTYPICFEATURE$.	false
+aaafbe7dbe7eeb6ad122a152f49d9bc9aad45b8e	Anterior pituitary insufficiency, pituitary @DISEASE$ and @PHENOTYPICFEATURE$; report of a case and findings at necropsy.	false
+6571b8ffaaed110bb2dde2bf0ef03c9bb35e9c3c	@DISEASE$ heart, atrial septal defect and hypertension, and @PHENOTYPICFEATURE$.	false
+a8895e4e38a6dc2ac660eb6954ac269aa65d1b60	This is a case report of @DISEASE$ coma secondary to amiodarone-induced hypothyroidism in a patient with severe @PHENOTYPICFEATURE$ (CHF).	false
+482742f2913e1a2b39b1fce949a3959c591afd93	[Therapeutic applications of thyroglobulin (observations in simple goiter, in @DISEASE$ and in @PHENOTYPICFEATURE$)].	false
+0c2371db7b9341b702089b057fafd1d9df26290e	Pituitary apoplexy, adrenal crisis, @DISEASE$ coma, thyroid storm, acute hypercalcemia and @PHENOTYPICFEATURE$, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+5fadf3f18d569f64b9a3823c2e63cdff04a23538	@PHENOTYPICFEATURE$ and ptosis, caused by a large orbital mass that was excised and determined to be malignant melanoma, developed in a 4-year-old girl with congenital @DISEASE$ (multiple large or giant cutaneous nevi associated with abnormal leptomeningeal pigmentation).	false
+68ecdb2306cf31bf9422c8758b2a637b990eacf3	Proptosis and @PHENOTYPICFEATURE$, caused by a large orbital mass that was excised and determined to be malignant melanoma, developed in a 4-year-old girl with congenital @DISEASE$ (multiple large or giant cutaneous nevi associated with abnormal leptomeningeal pigmentation).	false
+1a0efc613843fced6eee50c7c3b4062b96eadb26	Two siblings with @DISEASE$ and @PHENOTYPICFEATURE$ are described.	false
+68ef88c4114aafabc994d92d734c3b4b779ec7a8	These conditions generate a hyporeninemic @PHENOTYPICFEATURE$, observed in @DISEASE$, apparent mineralocorticoid hypertension, 11- and 17-hydroxylase deficiency, among others.	false
+57ca138d7e80613d47cc2fda39268b7a69380ff3	Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting tumors, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - Conns syndrome, familial @PHENOTYPICFEATURE$ 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, @DISEASE$, deoxycorticosterone-secreting tumors, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes.	false
+0679f1fc2e84ab163b458bd8083daf3281e94b96	@DISEASE$ (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable @PHENOTYPICFEATURE$ with a considerable neonatal mortality as a result of respiratory distress.	false
+48ecad64785e0838800f3c48a845b3c7a112f5fd	@DISEASE$ (JS, also described as asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable @PHENOTYPICFEATURE$ with a considerable neonatal mortality as a result of respiratory distress.	false
+2a0a8e071da5b2e2789a9cdc41aea20083dd6151	@DISEASE$ represents a complex childhood @PHENOTYPICFEATURE$ that can be treated effectively by means of a ketogenic diet.	false
+ce2a5cc9edac0168ba4193cb138080744c10b24d	The most prevalent @DISEASE$ include: memory deficits (73-81%), @PHENOTYPICFEATURE$ (35-57%), and fatigue (10%).	false
+deb8a9779bb0f77f2a628b8dbada74692f11d9cd	Participants completed the "Center for Epidemiological Studies Depression Scale" (@DISEASE$-D) and a questionnaire on @PHENOTYPICFEATURE$ and subjective cognitive complaints.	false
+4f0faac07b3d26ab0437c57739c905f329180468	At the end of the treatment period the tai chi/yoga group had lower summary depression (@DISEASE$-D) scores, as well as lower negative affect and somatic/vegetative symptoms subscale scores on the CES-D, lower anxiety (STAI) scores and lower @PHENOTYPICFEATURE$ scores.	false
+b5b91ce6b19cfb6db01af182ccb624c60ae9fd63	At the end of the treatment period the tai chi/yoga group had lower summary depression (CES-D) scores, as well as lower negative affect and somatic/vegetative symptoms subscale scores on the @DISEASE$-D, lower anxiety (STAI) scores and lower @PHENOTYPICFEATURE$ scores.	false
+c3910031fdbc64faac7d975edfa30c111fe39e96	The purpose of this work was to investigate the effects of cranial electrical stimulation (@DISEASE$) on @PHENOTYPICFEATURE$, depressive symptoms, and caregiving appraisal.	false
+5d537009248a8cbc574647da14cd80440c21b1a3	The aim of the study was to determine the feasibility and preliminary efficacy of a four-week @DISEASE$ intervention on depression, anxiety, @PHENOTYPICFEATURE$, and pain scores.	false
+fd34ee564c47f07ce951d9f0227b2578efc8b348	We conclude that (1) @PHENOTYPICFEATURE$ may be the initial manifestation of @DISEASE$.	false
+2859684b9d6bddcdc3c951188428468bbe138ae3	These findings did not fully support the efficacy of the short-term use of active @DISEASE$ versus sham CES to improve @PHENOTYPICFEATURE$, depressive symptoms, or caregiving appraisal.	false
+3fec458172139467c15d49b2aacd4dd617e335a2	Self-report scales for depression (@DISEASE$-D), anxiety (STAI-Y1), and @PHENOTYPICFEATURE$ (PSQI).	false
+3fec458172139467c15d49b2aacd4dd617e335a2	Self-report scales for depression (@DISEASE$-D), anxiety (STAI-Y1), and @PHENOTYPICFEATURE$ (PSQI).	false
+f4a826b0ac9148cec2c4391cbcd3adfdf8aecf3f	Depressive symptoms on the @DISEASE$-D were significantly associated with more severe @PHENOTYPICFEATURE$(r?=?0.38, p?=?0.0001) and interference with activities (r?=?0.59, p?<?0.0001).	false
+25bec35eed693765e0547f6307c62821ee7897d1	452 spot pediatric urinary samples previously submitted to urinalysis were consecutively included in the study with the exclusion of children's samples with diagnosis or clinical suspicion of @DISEASE$/pheochromocytoma, kidney diseases and arterial @PHENOTYPICFEATURE$.	false
+77fdad72a039a194cb7873e54bc716f47b795aa7	Genetic analysis of the CDC73 gene [for @PHENOTYPICFEATURE$-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for @DISEASE$/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44?K) were all normal.	false
+7738c230c22f8e07e607f90c97c4f6fe3639b6d8	Finally, isolated familial syndromes of endocrine tumors have been described: isolated familial @PHENOTYPICFEATURE$ type II (HRPT2), associated with alterations in a gene coding for an original protein, parafibromin, or isolated familial syndromes of pheochromocytomas and @DISEASE$ (PRG) associated with mutations in the genes SDHB, SDHC or SDHD, which encode succinate-dehydrogenase subunits.	false
+c786df495de768648cf9c8f881809324fd20b3e0	The spectrum of primary GU tract NE neoplasms includes carcinoid, small cell carcinoma, large cell NE @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0d90e209d0fbfa2b67792608ee17acd4d977d8ee	1. HCO3(-)-stimulated ATPase activity was demonstrated in mantle tissue of the freshwater clam, @DISEASE$ @PHENOTYPICFEATURE$.	false
+a50161f30c257f51d1e365328e39fdf536ca1fbc	In addition to medodermal anomalies of the anterior segment (e.g., prominent ring of Schwalbe, posterior embryotoxon, peripheral anterior synechiae, hypoplasia of the iris stroma) the case also manifested microcornea, @PHENOTYPICFEATURE$, glaucoma, excessive myopia, partial @DISEASE$ vera with maxillary hypoplasia and telecanthus.	false
+25359f4a9c5476053d10d756923d3f8b59b38370	Subcellular localization and characterization of HCO3(-)-ATPase from the mantle of the freshwater clam, @DISEASE$ @PHENOTYPICFEATURE$.	false
+3d888d8688569baef1bc87fe10e3c62815d86e4d	Acupuncture @DISEASE$ and facial @PHENOTYPICFEATURE$.	false
+e20e2e2a7ef82d11caa0f8d7fd6ec38aa72f5a0f	A strong relationship between @DISEASE$ and cervical spine @PHENOTYPICFEATURE$ exists, and widespread hyperalgesia is common in TMD.	false
+17e7987e42c29b4e88fe1241c2c3684e3ce386f5	A strong relationship between TMD and cervical spine @PHENOTYPICFEATURE$ exists, and widespread hyperalgesia is common in @DISEASE$.	false
+7312168bdf628d693ca2c3a8c1698a84aa423d91	Moreover, subjects with dental @PHENOTYPICFEATURE$ in addition to @DISEASE$ had increased prevalence of tinnitus than TMD alone.	false
+9410d63c2a527ef3a121da29666b49d2241846f5	Moreover, subjects with dental @PHENOTYPICFEATURE$ in addition to TMD had increased prevalence of tinnitus than @DISEASE$ alone.	false
+827aa2fcb7fc9e0727ad1f90c3d2793f0b23f240	Clinical and radiological investigations ruled out odontogenic pain, @DISEASE$ and other more common types of facial @PHENOTYPICFEATURE$.	false
+a4bae7171e03944af2af6af9d07ba15baaf6330f	Clinical and radiological investigations ruled out odontogenic @PHENOTYPICFEATURE$, @DISEASE$ and other more common types of facial pain.	false
+98ce734e57211abb5ad39748be3e10116532950e	However, sensitive @DISEASE$ patients had a short @PHENOTYPICFEATURE$ duration arguing against a transition from TMD to FMS over time.	false
+604e8f0afe778dddcd433e9042c57ae8df948a32	However, sensitive TMD patients had a short @PHENOTYPICFEATURE$ duration arguing against a transition from @DISEASE$ to FMS over time.	false
+011376ef49a876542ab602b814da9147e02e9fbf	Relationship between craniofacial @PHENOTYPICFEATURE$ and @DISEASE$ disorders: an epidemiological investigation.	false
+56b40d027ea4ed474775f57bc7ffeae693bc5b69	The role of the dental school in teaching @DISEASE$ and orofacial @PHENOTYPICFEATURE$.	false
+b4e483e7f720a7a46f8d98202f24b59f5c827386	Curriculum outline for adjunctive predoctoral education in @DISEASE$ and orofacial @PHENOTYPICFEATURE$.	false
+13290e35d0889781c9cd33c95ef12059205da398	A female patient with Down Syndrome (DS) had neonatal @PHENOTYPICFEATURE$ with platelet counts exceeding 2,000 x 10(3)/microL and transient myeloproliferative disorder (@DISEASE$).	false
+e635a0a87a835f90eb409840b9d7e5da9664e5e0	A female patient with Down Syndrome (DS) had neonatal @PHENOTYPICFEATURE$ with platelet counts exceeding 2,000 x 10(3)/microL and @DISEASE$ (TMD).	false
+96c8c8d03c6d5e6ad121c8ecd9d13b465139c314	Overview of @DISEASE$ and orofacial @PHENOTYPICFEATURE$.	false
+4aecf063e51518dd05eb5383b69c78217fc34ddd	Intracranial calcification and @PHENOTYPICFEATURE$, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition @DISEASE$ pseudo-TORCH syndrome.	false
+e84b4979b9c11fbb8faa7a9849d9a5d80985c42c	Intracranial calcification, periosteal proliferation and @PHENOTYPICFEATURE$, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder @DISEASE$ Raine syndrome.	false
+8ba68879b0d62c34023e49019cf5561a99107564	A male patient with limb weakness, myalgia and @PHENOTYPICFEATURE$ was subsequently found to have an @DISEASE$ (IMNM) on biopsy.	false
+eb5a4847c6bd34005ea31b3d4266f705618f4abc	@DISEASE$ (IMNM) patients had severe and extensive lower limb muscle @PHENOTYPICFEATURE$, FR, and atrophy.	false
+1531b8087e68bfb9bc37d87c34e5d3bfb83f92b3	Patient with statin-associated @DISEASE$ presenting with subcutaneous @PHENOTYPICFEATURE$, persistent bulbar weakness and absent anti-HMGCR.	false
+e21df8d4e3a787d4eec8482aa81a5e3892b720e9	Three had global developmental regression, 6 @PHENOTYPICFEATURE$, 4 dysarthria, 3 seizures, 1 @DISEASE$, 1 painful red feet, 2 insomnia, 2 gastrointestinal dysmotility, and 2 small fiber neuropathy.	false
+211e6584cfe74b49a4d5592254d36d81dadc57a9	Influence of @DISEASE$ and @PHENOTYPICFEATURE$ on geometry of the humerus in dogs.	false
+ccb0ec5787a7e8ac2cbbd753c7959e98e7a1b82f	Cartilage hair hypoplasia (CHH), or @DISEASE$ McKusick type, classically comprises @PHENOTYPICFEATURE$ and scant fine hair.	false
+b6c597ef8632660b6bf29da5c5628f0b37573127	A 15-year-old boy presenting with epilepsy, @PHENOTYPICFEATURE$ and intracranial calcifications was diagnosed as having @DISEASE$ by bone X-ray examinations.	false
+8c029f9e505ff828f979dba5cacb2ad5b7f3a61e	Intracranial calcifications, epilepsy, and @PHENOTYPICFEATURE$ associated with @DISEASE$: a case report.	false
+ac774475df85aec345badcfe6e379f34ed6742d4	They showed mild @PHENOTYPICFEATURE$, flat vertebral bodies (platyspondyly), large epiphyses, @DISEASE$, and hallux valgus as common clinical features.	false
+65e1654572d95bd1de50e248dc4b9449df60c404	Here we describe the molecular characterization of skeletal dysplasia in two brothers who presented with @PHENOTYPICFEATURE$ and mixed epiphyseal and @DISEASE$.	false
+15f4b1a24d0df4c37db226a2310714360d1df1c0	We conclude that recessive metaphyseal dysplasia without hypotrichosis is a variant of CHH, manifesting only as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dea8757d101a1ae541d59c72f99b9c82930b3e13	Metaphyseal anadysplasia (MANDP) is an uncommon chondrodysplasia characterized by early-onset @DISEASE$ and @PHENOTYPICFEATURE$ that improves with age.	false
+f3f0264ba7d992d40c418687999f3ec0c776cb31	We report the familial occurrence in a French Canadian family of @DISEASE$ associated to @PHENOTYPICFEATURE$ and previously undescribed facial and acral anomalies.	false
+5f3e45c8b48e17e3f68738ccd4b87ba3a8b37c09	Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, @DISEASE$, hypotrichosis and immunodeficiency.	false
+6bccb1391ba01a31e15dc8a8915bf09ba2d21a7e	She had additional features of @DISEASE$, deficient calcification of vault of the skull, growth retardation, a natal tooth, lymphoedema and @PHENOTYPICFEATURE$.	false
+ee3148014962acaec3468294f33e964f346fdc81	The patients were classified according to history, heredity, laboratory, electrophysiologic, histochemistry data and electron microscopy: in myositis with inclusion cytoplasmic bodies (4 cases), @DISEASE$ (6 cases), distal myopathies (3 cases), limb-girdle dystrophy (2 cases) and @PHENOTYPICFEATURE$ (1 case).	false
+c0fb91b60cff807f95e17e6117ddd555078c3307	The diagnosis and orthopaedic treatment of @DISEASE$, @PHENOTYPICFEATURE$, Friedreich ataxia, and arthrogryposis.	false
+c81ffb743e1d5a0277c661773cb0c7219eefaa53	In 15 patients with neurogenic muscular disorders, including cases of motor neuron disease, Wohlfart-@DISEASE$, Davidenkow's scapuloperoneal syndrome, @PHENOTYPICFEATURE$ and traumatic neuropathies, muscle biopsies were carried out, usually after EMG or single fibre EMG investigation.	false
+3d924379e1dcd81c24d5f83d29a723519a2d3cb0	Among 1400 muscle biopsies, we found 16 cases with rimmed vacuoles whose diagnosis were sporadic inclusion body myositis (IBM) (4 cases), @DISEASE$ (6 cases), distal myopathies (3 cases), limb-girdle muscular dystrophy (2 cases), and @PHENOTYPICFEATURE$ (1 case).	false
+743bdf273a1adde9e6c80ed1386c0077d232f89c	Our aim was to determine the frequency and the related features of @PHENOTYPICFEATURE$ in a cohort of patients with multiple sclerosis and @DISEASE$ spectrum disorder.	false
+3f6a3b2f9388f6d931a8a86df4f4101a231406ab	Paroxysmal dystonia was the most common @PHENOTYPICFEATURE$ in demyelinating diseases and strongly associated with @DISEASE$ spectrum disorder.	false
+fb17331f366f559b59b963779d4a8035a7a79123	The aims of this study were to clearly define and establish common terminology for spinal @PHENOTYPICFEATURE$ (SMDs) and characterize their full spectrum in patients with @DISEASE$ (NMO).	false
+eb3954d16947e2b10130ebed62d47fa44858aee4	In this review, the authors cover chronic and relapsing neurological diseases including multiple sclerosis, @DISEASE$, motor neuron disease and a number of neurodegenerative dementias and @PHENOTYPICFEATURE$.	false
+ab13590970c2af6392b4f29cd411a3b058fd125e	AQP4 is involved in various pathologies such as: stroke, brain tumors, @DISEASE$ (NMO), Alzheimer's Disease (AD), traumatic brain injury, Parkinson's Disease, hydrocephalus, schizophrenia, epilepsy, major depressive disorder, @PHENOTYPICFEATURE$.	false
+a8667c10f3d6007fdaf8ffcf51d6be15cdc01400	In our experience, respiratory dysfunction can remain isolated but may also be associated with other dysfunctions or complications, such as, septic shock, @PHENOTYPICFEATURE$, myasthenia gravis exacerbation, Guillan-@DISEASE$, acute renal failure, nosocomial infections and biological disturbances.	false
+97814451f15c8895c65b20561b6033e3ea2e8923	LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, myoadenylate deaminase deficiency, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, @DISEASE$, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich @PHENOTYPICFEATURE$.	false
+29a0af7ab8ba637a8eceaac885c63786be8d5d72	@DISEASE$ is an X-linked recessive disorder comprising dilated cardiomyopathy, @PHENOTYPICFEATURE$, and cyclical neutropenia.	false
+d91ba08196ef69969cbd8193a686040416ea4f31	So far, they have been shown to investigate the molecular mechanisms of many cardiac disorders, such as long-QT syndrome (LQT), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), LEOPARD syndrome (LS), arrhythmogenic cardiomyopathy (ACM), Friedreich @PHENOTYPICFEATURE$ (FRDA), @DISEASE$ (BTHS), hypoplastic left heart syndrome (HLHS), Marfan syndrome (MFS) and other CHD.	false
+63c37e7b452276e7db7b6a9647a75a57737bc88d	Acute manifestations of swine flu varied from behavioral changes, fear of misdiagnosis during outbreak, neurological features like @PHENOTYPICFEATURE$, encephalopathy, encephalitis, transverse myelitis, aseptic meningitis, multiple sclerosis, and Guillian-@DISEASE$.	false
+14859835d2a2fcc568c0f3b089b038cd35c3b3f5	Acute manifestations of swine flu varied from behavioral changes, fear of misdiagnosis during outbreak, neurological features like seizures, @PHENOTYPICFEATURE$, encephalitis, transverse myelitis, aseptic meningitis, multiple sclerosis, and Guillian-@DISEASE$.	false
+e6cd9bb9bc5dcf55e1583c5b577ded17b7c1c476	Other mitochondrial diseases with cardiomyopathies include @DISEASE$, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich @PHENOTYPICFEATURE$.	false
+542852777f14cdde3a7b67f639f28dac714a9f20	The spectrum of neurological diseases were stroke 64.9%, central nervous system infections (21.8% ), HIV related neurological diseases 3.5%, hypertensive @PHENOTYPICFEATURE$ (3.4%), dementia (3%), subarachnoid haemorrhage (2.2%), Guillian @DISEASE$ (1.2%), Parkinson's disease (1.1%), myasthenia gravis (1.0%), motor neurone disease and peripheral neuropathy and accounted for 0.8% and 0.6% respectively.	false
+3a370275d12ffe5857bacca91e8213980e81555d	Miller Fisher syndrome (MFS) is a variant of Guillan @DISEASE$ characterized by the triad of ophthalmoplegia, @PHENOTYPICFEATURE$ and areflexia.	false
+541ab08412a4b049a11fc423098a83ca8837141a	So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile glycogenosis type II (Pompe's disease), myoadenylate-deaminase deficiency, mitochondriopathy, @DISEASE$, Friedreich @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease.	false
+cdd2aa1465229037c0052eaa6e6da0003ee7d30e	As a guideline, I would recommend that all patients, with the exception of those with @PHENOTYPICFEATURE$, @DISEASE$, febrile seizures, and typical absence seizures have a CT scan with and without contrast enhancement.	false
+0d1f84d70de278a56b1efb1c70161dabe0fc0d57	Risk factors for LVH in the dialysis population are numerous and include arterial distensibility, hypertension, @PHENOTYPICFEATURE$, arteriovenous fistula, and @DISEASE$.	false
+42b948337a6456b6451b37354b111e948fc2f837	In the absence of a specific therapy for polycystic kidney disease, patients are treated for chronic kidney disease symptoms, like hypertension, @PHENOTYPICFEATURE$, @DISEASE$ and pain.	false
+ddad3501696ec4f323fa5cbf945454dcd4705761	The high prevalence of diabetes, @PHENOTYPICFEATURE$, @DISEASE$ and hypertension among chronic dialysis patients fosters structural heart diseases.	false
+6addde6fe8a9eba6783aaef6c20b453f214b5d34	Calciphylaxis in the setting of non-hemodialysis, rapid @PHENOTYPICFEATURE$, and mixed @DISEASE$.	false
+314eb2f442cd8bd52539c8cb6e9ad102a224bf12	Uremic toxins, renal @PHENOTYPICFEATURE$, @DISEASE$, zinc deficiency, vascular and neurologic abnormalities are also reported to be the causative factors of sexual dysfunction.	false
+04158320a18326572c28cc0cf6866128b411bb56	Pain was not explained by other diseases causing foot pain, like reflex sympathetic dystrophy, polyneuropathy, Morton's neuralgia, gout, osteoporosis, avascular necrosis, intermittent claudication, orthopaedic @PHENOTYPICFEATURE$, stress fractures, and @DISEASE$.	false
+ba4c90f8a04c727d019b31d076a9fb98e30f095b	The corrected Cockcroft-Gault, the MDRD, and the CKD-EPI equations were well correlated with all CKD-specific complications including hypertension, @PHENOTYPICFEATURE$, hyperkalemia, metabolic acidosis, hypocalcemia, hyperphosphatemia, and @DISEASE$.	false
+1da5853cb904325088f19ab244298bcd93f83f59	We investigated whether the initial presence and subsequent maintenance of proteinuria, hypertension, @PHENOTYPICFEATURE$, hyperlipidemia, and @DISEASE$ influenced the progression of transplant failure.	false
+949b22f76e95d745fda4da53a10edf4e3c2b173d	In patients on chronic hemodialysis (CHD) @DISEASE$ (HPTH) is associated with @PHENOTYPICFEATURE$ and resistance to erythropoietin (EPO).	false
+0e62282caaf106f7e89c4171eb045227d0b360b8	Renal @PHENOTYPICFEATURE$, metabolic acidosis, and @DISEASE$ were mostly mild and not predictive of growth rates by multivariable analysis.	false
+3301defecc8e35b18961ccc0280a732c6fb18285	We report a boy with a nasal deformity, choanal atresia, @DISEASE$, severe bilateral @PHENOTYPICFEATURE$ and a facial cleft who showed regression of development at the age of 2 years with subsequent improvement.	false
+7fba602ba06eb5c046846b0cbe569c057ac5ea9b	He presented with short stature, psychomotor retardation, microcephaly, @PHENOTYPICFEATURE$, dacryostenosis, partial left nerve deafness, high arched palate, @DISEASE$, total fusion between incisors, asymmetric preaxial and postaxial polysyndactyly, brachyphalangy, kyphosis and spina bifida occulta of S1.	false
+4664c5cc63b03daf7a77aa0163912e64580c74e9	Other systemic features overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes, including cleft palate, @DISEASE$, skeletal overgrowth, cervical spine instability and @PHENOTYPICFEATURE$ deformity.	false
+ab2866ef6222251f959ca984eb61c23d32c394d2	The characteristic craniofacial findings of hypertelorism, down slanting palpebral fissures, strabismus, @PHENOTYPICFEATURE$ of eyelids, @DISEASE$, high-arched palate and retrognathia were present.	false
+212c5bd930b4f288bb1431f8dee5ff21e18cbddf	We describe a patient with bilateral extreme @PHENOTYPICFEATURE$ with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, @DISEASE$, frontal encephalocele, and premature craniosynostosis.	false
+0fa37f7dbcf0d16e722666c6721a1a55b5debdf2	Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, @DISEASE$, @PHENOTYPICFEATURE$ and double upper lip.	false
+c74f4c7e904b2f7f18c7649e9e0499ca5af62f46	They emphasize one case of familiar presentation (mother-daughter), other with eye coloboma and @DISEASE$ coexistence and a last one with a @PHENOTYPICFEATURE$ of moderate degree.	false
+fa12b7adcdd972c2ed2f62fdd9874f59f000aede	He also had developmental delay, cardiovascular malformation, growth failure with microcephaly, short stature, and underweight, @PHENOTYPICFEATURE$, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, @DISEASE$, single palmer creases, and distinctive facial features including straight eyebrows, ptosis, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate.	false
+e41a30a6f72a527de6879e1766724eb6a8086a9a	He also had developmental delay, cardiovascular malformation, growth failure with microcephaly, short stature, and underweight, sensorineural hearing loss, myopia, astigmatism, cryptorchidism, hypospadias, microphallus, lower extremity length discrepancy, @DISEASE$, single palmer creases, and distinctive facial features including straight eyebrows, @PHENOTYPICFEATURE$, up-slanted palpebral fissures, broad nasal bridge, low-set and posteriorly rotated ears, small mouth with thick lower lip, microretrognathia, and high-arched palate.	false
+84bde1c892d994ef6021ca413684486cb8151598	A detailed physical examination revealed hypertelorism, @DISEASE$, retrognathia, @PHENOTYPICFEATURE$, and camptodactyly.	false
+78571ee7dcd239fde277a43adc6ceffb91650635	We report on 3 unrelated patients with a syndrome of @PHENOTYPICFEATURE$ (3/3), midface hypoplasia (3/3), disproportionate shortness with short limbs (3/3), cleft palate or @DISEASE$ (3/3), and lack of high myopia (3/3).	false
+7671b020495ca56e87fd866720f4552b297ec718	Males with @DISEASE$ have moderate to severe bilateral @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+1e18ce5782face51a3aec272ab6cc066bd96f77d	We describe late-onset @DISEASE$ in a 12-year-old boy who presented with vomiting, cough, and @PHENOTYPICFEATURE$, and manifested a precipitous decline in mental status, accompanied by acute encephalopathy and severe neurologic damage, with bilateral basal ganglia involvement upon neuroimaging.	false
+0f4eeec5f0f1eaf67addc6fd65faa98ca69ae71b	We describe a patient with a phenotype characterized by @DISEASE$ with severe lower eyelid coloboma, cleft @PHENOTYPICFEATURE$ ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+d803cc7b9f8eeedae0285c8b51e4d352307f6418	Clinical features mimicked those of various neurological disorders, especially multiple sclerosis, Wernicke encephalopathy, brainstem @PHENOTYPICFEATURE$, Fisher syndrome, disorders of amino acid metabolism and @DISEASE$.	false
+a29d0fcdf123778482281b518344faaa094e7a22	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, @DISEASE$, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+6a47cf953a0a0b019ae57ee1a794629a0011b2f5	In this study, we report 16 affected individuals from four unrelated families presenting with a spectrum of cognitive impairment including intellectual deficiency, executive dysfunction, ADHD and/or autism, as well as childhood-onset epileptic encephalopathy with refractory absence epilepsy, @PHENOTYPICFEATURE$, downbeat nystagmus and @DISEASE$.	false
+c75f85d9add2506969bc56e6f6135cbacbd724c0	Over recent decades, the development of specialised techniques such as patch clamping and site-directed mutagenesis have established the contribution of neuronal ion channel dysfunction to the pathophysiology of common neurological conditions including epilepsy, multiple sclerosis, spinal cord injury, @PHENOTYPICFEATURE$, @DISEASE$, amyotrophic lateral sclerosis and neuropathic pain.	false
+4b9e287d513aee1d09242e7defd95624089723a3	Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C?>?T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, sensorineural hearing loss, scoliosis, @PHENOTYPICFEATURE$, and @DISEASE$ (CDI).	false
+670edceccde9c6656680596c516b8438d7072f84	He developed @DISEASE$ as a neonate, followed by interstitial @PHENOTYPICFEATURE$, anemia, and hepatosplenomegaly.	false
+ead5f35231168581461b91fe3d469da2fa67c5f4	A 64-year-old male with a history of @DISEASE$ and repeated main pancreatic duct stenting presented with weight loss, @PHENOTYPICFEATURE$, night sweats, and abdominal pain.	false
+abf5a887cd09d0cdcc7d98449c9349745aa98f4b	Some risk factors are age, gender and race, genetic susceptibility, dietary factors, @PHENOTYPICFEATURE$, @DISEASE$, diabetes and physical inactivity.	false
+01cd759997101a2cdb71de479063cd5b6f3b62e5	Beside the ordinary clinical manifestation of @DISEASE$, such as abdominal pain, @PHENOTYPICFEATURE$, jaundice, and steatorrhea, regional (splenic) portal hypertension may be observed.	false
+ad76fc9fbbc512230528b6d7c4bd471b90f9122a	Diabetes secondary to @DISEASE$ (CP) or type 3cDM refers to a brittle form of diabetes and is often characterised by @PHENOTYPICFEATURE$ episodes, erratic glycaemic control, and impaired quality of life.	false
+d04d5ed1ddbe2fceaed146341f607cd2e187f83c	Spontaneous @PHENOTYPICFEATURE$ After Islet Autotransplantation for @DISEASE$.	false
+074d139b9e07590ce42ba8ce39b4ccc47440f9c9	On the basis of our data, we conclude that the glucose @PHENOTYPICFEATURE$ in @DISEASE$ occurs as a result not merely of impaired production of endogenous insulin, but also as result of a combination of the latter together with insulin resistance.	false
+8a806fb73a7ce35074da21afcc6bc7edeb3e8695	The hyperimmunoglobulinaemia D and periodic fever (hyper-@DISEASE$) syndrome is typified by recurrent unpredictable febrile attacks with @PHENOTYPICFEATURE$, joint involvement (arthralgias/arthritis), headache, skin lesions and a polyclonal elevation of serum IgD (> 100 U mL-1).	false
+004fc19784c7fe8522b8eaa836ffc32cea6baafe	In the proximate potassium analysis, @PHENOTYPICFEATURE$ occurred more frequently than hypokalemia (16.7% vs. 3%), and was associated with a doubling in @DISEASE$/SCD risk (adjusted odd ratio: 2.37; 95% confidence interval: 1.33-4.23)	false
+622bd6a5e3288878bf30d0c88a0533a1d5a94834	Two risk factors for CKD, i.e., nocturnal hypertension and @PHENOTYPICFEATURE$, were associated with lower eGFR in older children and adolescent patients with @DISEASE$.	false
+960757d8436db63d4f0cf0ce843639b225331c21	Patients with @DISEASE$ and a history of lower alveolar nerve @PHENOTYPICFEATURE$ and those who had suffered from vasoocclusive crises within the previous 6 months were excluded.	false
+01cacf49ee1ef573aa16bca4f18c4aee72810a99	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+67ddf01fcbcb6625fd4ba15337ca2a3fd4a6efe9	Monogenic syndromes were identified in 6% (12/204) of CL?P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); @PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and @DISEASE$ (1 case).	false
+1cd3a1c279a71c81a76fdb6432565b95ed5442ff	Mutations in the MKS1 gene are a major cause of @DISEASE$ (MKS), the most common form of syndromic @PHENOTYPICFEATURE$, frequently resulting in perinatal lethality.	false
+1795a55645e81d63f9db35305f7c86cb14ea92de	The human syntenic region of this locus has been previously linked to @DISEASE$; the phenotype includes postaxial polydactyly, an ectopic digital defect hypothesized to be induced by a common molecular pathway with @PHENOTYPICFEATURE$.	false
+b7e3d469f099473c256559588588a7f24cadf582	It is concluded that measurement of amniotic fluid AFP is helpful for @DISEASE$ only when there is an associated open @PHENOTYPICFEATURE$.	false
+b6122cbbcb301a25914e76abf9a205d9e9efa38d	We have examined 1500 fetuses and have detected conditions that affect only one system, like the skeletal dysplasias (osteogenesis imperfecta, thanatophoric dysplasia, diastrophic dwarfism, achondrogenesis I, Jeune syndrome and many others), @PHENOTYPICFEATURE$, gastroschisis, multiple congenital malformations syndromes (Vater, Vacterl, Weyers olygodactyly, @DISEASE$, and others).	false
+c5d788749fc5281c68b91079538c4cd4c7d303aa	We report a fetus affected by @DISEASE$ whose phenotype was characterized by @PHENOTYPICFEATURE$, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus.	false
+b38620c4a336e690926f145e1b981305469c1015	Both processes are essential for proper brain activity, and autosomal dominantly @PHENOTYPICFEATURE$ in the ATP1A2 gene cause the neurological disorder @DISEASE$ type 2 (FHM2).	false
+9f2f545b027894822d8bd8920773f34fb1cade2f	Mutations in ATP1A2 gene can result in @DISEASE$ (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, @PHENOTYPICFEATURE$ and sensorineural hearing loss (CAPOS) syndrome.	false
+2bdc159e3088fb20bc8d4b54951fd473594e68a6	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (@DISEASE$, 3.05).	false
+d870f0fc219c22f0dd057b5c1df087c6bc56c0d5	Autosomal dominant mutations in the CACNA1A gene, which encodes voltage-gated P/Q-type calcium channel subunit ?(1) (the principal pore-forming subunit of the P/Q channel) are associated with episodic and progressive forms of cerebellar ataxia, @DISEASE$, @PHENOTYPICFEATURE$ and epilepsy.	false
+c56f51fd0c0fc96d64a5b03c929824751c12352e	In such patients PD+OH might be confused with multiple system atrophy (MSA), in which OH is a frequent finding, or with @DISEASE$ (PAF), if OH preceded clinical manifestations of the @PHENOTYPICFEATURE$.	false
+766c22e35adc24fec5b68cfc8df7098e5e533ba5	Patients with autonomic impairment, clinically unassociated with other @PHENOTYPICFEATURE$, are considered to have the Bradbury-Eggleston syndrome (@DISEASE$, pure autonomic failure).	false
+df71fc410b616d481d7bd51c92f3f3eff1413c9e	Patients with autonomic impairment, clinically unassociated with other @PHENOTYPICFEATURE$, are considered to have the @DISEASE$ (idiopathic orthostatic hypotension, pure autonomic failure).	false
+d7927308686c7ed0b5abd0504b4765a9e9102fb7	Teaching NeuroImages: @DISEASE$ presenting with progressive early-onset @PHENOTYPICFEATURE$.	false
+d4daf7c2308d5a180b7eb478fbd502c8c7495bfa	Fatal worsening of late-onset @PHENOTYPICFEATURE$ with neuronal intranuclear inclusions due to superimposed meningeal @DISEASE$.	false
+a405344998de484303cd93d1a515846b58254abd	A new presentation of isolated cutaneous @DISEASE$: Eruptive @PHENOTYPICFEATURE$-like lesions.	false
+979388523f6847ff913cdb70748b996fedf416ee	Local atherosclerosis of stroke differ among vulnerable individuals, whereas intracranial @PHENOTYPICFEATURE$ (ICAS) is more frequently affected Asians, and extracranial arterial stenosis (@DISEASE$) is more prevalent among whites.	false
+14aaa2cdb117496ffe006518a7c84080236d4bca	Since it has remained unclear whether arterial pre-hypertension is a risk factor for cerebrovascular diseases, potential associations between arterial pre-hypertension and intracranial @PHENOTYPICFEATURE$ (ICAS) and extracranial arterial stenosis (@DISEASE$) were assessed.	false
+d190e261bbe5b39b20d8e18cac9e413ed4b63277	Oral and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3d8a51bb778f820dc453bad481574d225764c4e7	@DISEASE$ is characterized by persistent patent ductus arteriosus (PDA) associated with hand-skeletal abnormalities and distinctive @PHENOTYPICFEATURE$.	false
+b1576f2e419f28565ed32cf4df81f6ae6857aee6	Mutations in TFAP2B, which encodes a neural crest-derived transcription factor, can cause @DISEASE$, characterized by PDA, @PHENOTYPICFEATURE$, and skeletal abnormalities of the hand.	false
+ab7ce7de14be075e6ebeb0b4713267f9e5d6e590	Thus, a positional cloning strategy was undertaken to determine the gene responsible for the @DISEASE$, an autosomal dominant disorder characterized by PDA, @PHENOTYPICFEATURE$, and hand anomalies.	false
+792a14871b7933c44115624aa461008227b1b630	@DISEASE$ is an autosomal dominant trait characterized by patent ductus arteriosus, @PHENOTYPICFEATURE$ and hand anomalies.	false
+8c51299b5a7f413f9f92d4e5a882088c6e9d1d70	In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and @PHENOTYPICFEATURE$, all leading to the clinical diagnosis of @DISEASE$.	false
+8791ae4ab914adad4ac3651a872abdd93efaa6f3	@PHENOTYPICFEATURE$ with Mycobacterium kansasii in a patient with myelodysplastic syndrome and @DISEASE$.	false
+318d6c767c4843d9c53308cf3c8faa6ad27600f4	The 9 most common paraneoplastic and metastatic cutaneous manifestations of malignancies found in women with gynecologic or breast disease are reviewed including a review of multicentric reticulohistiocytosis, dermatomyositis, malignant acanthosis nigricans, erythema gyratum repens, @PHENOTYPICFEATURE$ lanuginosa acquisita, @DISEASE$, Paget disease, extramammary Paget disease, and Sister Mary Joseph nodule.	false
+e6aaf0497a5acc345414a7771595a6d198ba1134	Above all, dermatomyositis, figurate erythemas, erythroderma and a number of bullous dermatoses (e.g., bullous pemphigoid, pemphigus vulgaris and dermatitis herpetiformis, @DISEASE$, pruritus, prurigo, acanthosis nigricans, Leser-Tr?lat sign, alopecia mucinosa, acquired ichthyosis, Bazex' syndrome, @PHENOTYPICFEATURE$ aquisita lanuginosa) are among the paraneoplastic dermatoses.	false
+f5254ffac34a269445573a4346e93fcafc594442	The @DISEASE$, or acute febrile neutrophilic dermatosis, is rare and has characteristic clinical, physical, and pathologic findings: abrupt onset of pyrexia, elevated neutrophil count, tender erythematous skin lesions, and a diffuse infiltrate of mature neutrophils in the reticular dermis with @PHENOTYPICFEATURE$ in the papillary dermis.	false
+b9ec7e6c48a831f7433be96e0989501763699067	@DISEASE$ is a rare inflammatory disease with rapid onset of painful, @PHENOTYPICFEATURE$ skin eruptions, and neutrophilia.	false
+d41c03270db52276074f67e279f29b00ea0e915c	Patients with @DISEASE$ (SS) have acute onset of cutaneous lesions with characteristic histopathology (dense and diffuse neutrophilic infiltrate, dermal @PHENOTYPICFEATURE$, leukocytoclasis and no vasculitis) accompanied by systemic symptoms.	false
+7d95023532e5fd977a5e7f5a45930cb7e02ee839	@DISEASE$ (SS) or acute febrile neutrophilic dermatosis presents with the sudden onset of fever, leukocytosis and tender, erythematous, @PHENOTYPICFEATURE$, well-demarcated papules and plaques that histopathologically demonstrate a dense neutrophilic infiltrate.	false
+f9400eef62a8e2b52c05eb996d2ff824b27b3b5a	A skin biopsy specimen of the cutaneous @PHENOTYPICFEATURE$ erythematous plaques revealed neutrophilic dermatitis compatible with @DISEASE$.	false
+f0bc70d10ae933c572407d89269601df77cfe25a	@DISEASE$ is characterized by fever, leukocytosis, and tender, erythematous, well-demarcated papules and plaques, which show dense neutrophilic infiltrates and papillary dermal @PHENOTYPICFEATURE$.	false
+1683425e6913c1e2dc2f78ebab494aa0d5748109	@DISEASE$, also known as acute febrile neutrophilic dermatosis, is characterized by dermal @PHENOTYPICFEATURE$ and a dense neutrophilic infiltrate, associated with a constellation of clinical and biological signs.	false
+fe15cb790c35cb57a07b259fefa46341a19189fe	A patient with @DISEASE$ with endocrine abnormalities, @PHENOTYPICFEATURE$, and breast aplasia/hypoplasia.	false
+3e1685c6cfcb27a72bc2605683cb03967f04c389	@DISEASE$ (NMT) is a condition associated with muscle @PHENOTYPICFEATURE$.	false
+224cea8c3cf6e59e5f3ec512b39980623afd7969	These are; ple21 in limbic encephalitis; PCD17, CDR62, CDR34, and CZF in paraneoplastic cerebellar degeneration; one of the anion transporters band 3 in chorea-acanthocytosis; visinin-like substance in cancer-associated retinopathy (CAR syndrome); myelin basic protein (MBP) and proteolipid protein (PLP) in acute disseminated encephalomyelitis; MBP, PLP and myelin-oligodendrocyte glycoprotein (MOG) in multiple sclerosis; glutamic acid decarboxylase in stiff-man syndrome; GM1 ganglioside in amyotrophic lateral sclerosis; peripheral nerve K+ channel in @DISEASE$; synaptotagmin in Lambert-Eaton syndrome; acetylcholine receptor in myasthenia gravis; GM1 ganglioside in Guillain-Barr? syndrome; GQ1b ganglioside in Fisher syndrome; myelin-associated glycoprotein in IgM paraproteinemic neuropathy; HuD in paraneoplastic @PHENOTYPICFEATURE$; and tRNA and HSP65 in polymyositis.	false
+b030d5cf257ed7e328bec8a2e585a2040424bde5	Patients with @DISEASE$ (POAG) across the spectrum of IOP exhibit a variety of ocular and nonocular @PHENOTYPICFEATURE$.	false
+7267af479a7c022a121a9824047cdba12c5b4bac	@DISEASE$ (POAG) is a major cause of blindness and visual @PHENOTYPICFEATURE$.	false
+a05fc49d4ae9cf0e6ccaf6e5b1bf1fe97fc97b92	Contrast sensitivity and visual @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0cc4615479cd02c070c40a76e59fe974bbe2b2f3	Juvenile onset @DISEASE$ (JOAG) unlike adult onset primary open-angle glaucoma presents with high intraocular pressure and diffuse visual field loss, which if left untreated leads to severe visual @PHENOTYPICFEATURE$.	false
+18ee7116b6d4cb31d574cede755ed40d81d0e8d7	Juvenile onset primary open-angle glaucoma (JOAG) unlike adult onset @DISEASE$ presents with high intraocular pressure and diffuse visual field loss, which if left untreated leads to severe visual @PHENOTYPICFEATURE$.	false
+be34ed22aa13d7bc6f3744d82f5833fefbd6df70	Because @DISEASE$ (FH-II) includes @PHENOTYPICFEATURE$ formation, we examined the karyotypes of benign adrenocortical aldosterone-producing adenomas (APAs), including those from patients with FH-II.	false
+dd9860d6bd5d58c10df240e6f4a054e1fc4c79d7	Three different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (@DISEASE$), lactic acidaemia and the syndrome of megaloblastic anaemia with @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+9c91dea97c2b3178070f2371d1dbc27922c003b6	The @DISEASE$ (NPS1) is an autosomal dominant disorder characterised by dysplasia of the finger nails and @PHENOTYPICFEATURE$.	false
+8f012047e6054a1ae011362e45b037f61fcd5a39	@DISEASE$ is an autosomal dominant disorder characterized by nail dysplasia and @PHENOTYPICFEATURE$.	false
+1a9aa38222bb87968a3df07cdc4690800b1b05ef	[@PHENOTYPICFEATURE$ in @DISEASE$.	false
+061734464f40198bf383ff587c8cc18dd22c6054	Mutations in LMX1B cause @DISEASE$ (NPS), an autosomal dominant disease with @PHENOTYPICFEATURE$, nail hypoplasia, and nephropathy.	false
+c54b90c8817ef0dda8119a5a1f7955537a225c75	Bilateral first-rib hypoplasia, a @PHENOTYPICFEATURE$ not previously associated with the @DISEASE$, is reported occurring in a young woman possessing numerous other features of this potentially lethal condition.	false
+8209c6efcc5c7a35368293b339fac1679930fcfd	@DISEASE$ is an autosomal dominant disorder characterized by dyplasia of finger nails, @PHENOTYPICFEATURE$, and, frequently, renal disease.	false
+712e81f79877cf829554b8cf738a5400adba865b	@DISEASE$ (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, @PHENOTYPICFEATURE$ and frequently renal disease.	false
+765e6cf5f657ddcb6fb93bc23a4dc2e0bbfcab78	@DISEASE$ (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, nail dysplasia, renal and ocular abnor malities.	false
+2464f1dd4930b7eb169d5cddfd1b4865b5e40f73	@DISEASE$ (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, @PHENOTYPICFEATURE$, and nephropathy.	false
+60100bf3a2c7d4fcc47f4cc91f208be2e04ac99b	Mutations in the LIM-homeodomain transcription factor LMX1B cause @DISEASE$, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other @PHENOTYPICFEATURE$ and variably nephropathy and glaucoma.	false
+9f68b1de313539dfb8bc18181777d2ee3ed439c6	Individuals with @DISEASE$ present with hepatomegaly, @PHENOTYPICFEATURE$, hyperlipidemia, and growth retardation.	false
+a268973c8e01d90b10ad04971eac1bc8c6c3b01b	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$, and growth retardation.	false
+f6e8fbe80b154708dbe93d55b40e32d6cc2b7933	@DISEASE$ (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and @PHENOTYPICFEATURE$.	false
+e450c0cea151c2f5e9a9199940fe8b9b0891af3b	@DISEASE$ (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+02099f98661fd19f31cc2c0885d5866f77ad425b	The age at diagnosis was higher, and there was a high prevalence of hypertension, nocturia, @PHENOTYPICFEATURE$, nephrolithiasis, UTI, and renal dysfunction in Indian @DISEASE$ patients.	false
+4bee89afa577d26d40d33ba1cd0a3c73deb8601c	@DISEASE$ patients presenting with @PHENOTYPICFEATURE$ and/or fever between 01/2005 and 06/2015 were retrospectively identified in a systematic computerized billing database.	false
+d1a7dd247f8ffde7bb9566b33c4e1dec665e0a03	We report a case of an @DISEASE$ patient post kidney transplantation presenting with nausea, vomiting, and @PHENOTYPICFEATURE$ without signs of peritonitis.	false
+1af83082ecadb3c0a53e73bc8e3785b9e5eb3908	We report a case of an @DISEASE$ patient post kidney transplantation presenting with nausea, @PHENOTYPICFEATURE$, and abdominal pain without signs of peritonitis.	false
+6f49254be9d94f339fb5bf93172f540376f01114	Patients with autosomal dominant @PHENOTYPICFEATURE$ (@DISEASE$) present a number of vascular abnormalities, including cerebral aneurysms, heart valve lesions, coarctations of aorta and abdominal aortic aneurysms.	false
+1f22543430c559b1b21d7690675425cf330efca7	In the present article we report, for the first time, generation of iPS cells from kidney transplant recipients with a history of autosomal-dominant polycystic kidney disease (@DISEASE$), @PHENOTYPICFEATURE$, or Wilms tumor and ESRD.	false
+24bdd2129a454b917e53397ae6ed0536ca6533cb	In the present article we report, for the first time, generation of iPS cells from kidney transplant recipients with a history of @DISEASE$ (ADPKD), @PHENOTYPICFEATURE$, or Wilms tumor and ESRD.	false
+d694fff32a713993a7c5b3be241fe24296b9553a	Renal injury may manifest as large kidneys, @PHENOTYPICFEATURE$, hypertension and hematuria in children and young adults with @DISEASE$ (ADPKD).	false
+2ee37e09ecb6e7ba7ef1fae3233b317c083d9371	Renal injury may manifest as large kidneys, @PHENOTYPICFEATURE$, hypertension and hematuria in children and young adults with autosomal dominant polycystic kidney disease (@DISEASE$).	false
+e367b6c638ac6db22cbafa5a50d853824805b26b	@DISEASE$ may present to the emergency department (ED) with @PHENOTYPICFEATURE$, abdominal pain or hernias, renal insufficiency or failure, or bleeding from cerebral aneurysms.	false
+a2c687d91b05d6e3aa41a73819ed38097f932c93	@DISEASE$ may present to the emergency department (ED) with vomiting, @PHENOTYPICFEATURE$ or hernias, renal insufficiency or failure, or bleeding from cerebral aneurysms.	false
+21c0ebf060d0c1b713001b9dfb78a9f861ebc45c	@PHENOTYPICFEATURE$ is the main factor for significant variation in the course of autosomal dominant polycystic kidney disease (@DISEASE$).	false
+ef37d54c803928a2803faa8fd5e672399bef7e7c	@PHENOTYPICFEATURE$ is the main factor for significant variation in the course of @DISEASE$ (ADPKD).	false
+5ff3e5509eefa43848693cd3649c010e92245370	A 65-year-old man with @DISEASE$ on hemodialysis visited our hospital with complaints of fever and left @PHENOTYPICFEATURE$.	false
+059ff34f0d3c225b9a7215c36535287dfed3a7ce	Three of the live-born infants had @DISEASE$ and one had autosomal recessive @PHENOTYPICFEATURE$.	false
+672707912d2ad38fc35e60adf3bf27d476f9d956	In this series, the occurrence of some clinical features linked to the @DISEASE$ is consistent with the literature, such as systematic valvulopathies, corneal opacity, and umbilical hernia; however, storage signs, @PHENOTYPICFEATURE$ features, and hepatomegaly were more frequent in our series.	false
+8b28c565ad90dcff6a55d41774613383966598f9	The differential diagnosis includes @PHENOTYPICFEATURE$, primary hyperaldosteronism, Bartter syndrome, @DISEASE$ and other diseases that cause hypokalemia.	false
+03f1b2b99bf2aad36f816c955f08cd963a4dc0aa	The de novo @PHENOTYPICFEATURE$ is the first reported frameshift of the gamma-subunit causing @DISEASE$.	false
+e2b30cd4993f518dbc959b55152b5c69d0662763	Although elderly patients having these characteristics were considered to have @DISEASE$ or Liddle's-like syndrome, no previous report has indicated that Liddle's-like syndrome could be caused by nephrotic syndrome of primary glomerular disease, which is characterized by urinary excretion of >?3?g of protein/day plus edema and @PHENOTYPICFEATURE$, or has explained how the activity function of ENaC could be affected in the setting of high proteinuria.	false
+1798a7446d54d9a7e28fa338f4f822e522aeed76	In this study, we analyzed urine exosomes to determine the differences between exosomes from patients with @DISEASE$, multiple myeloma, monoclonal gammopathy of undetermined significance, and non-@PHENOTYPICFEATURE$ related kidney disease controls.	false
+f90c3841873590f3434832b199563a67df636c65	We experienced a case of recurrent @PHENOTYPICFEATURE$, in a 59-year-old female patient with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4686607b72d551240bad8386439d6afb0b12e536	Here we report a case of @DISEASE$ with marked thoracic hypoplasia, micromelia and @PHENOTYPICFEATURE$, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound.	false
+c60c3c0a97b93cdf0711dbfcc58c6b232b6ee4c9	WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and @DISEASE$ are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral @PHENOTYPICFEATURE$, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face.	false
+ddb806722187a4fcfc00fb7a7b0062342ad199a8	We also identify for the first time an association of @DISEASE$ with @PHENOTYPICFEATURE$ and autistic behaviors.	false
+e92b88aa9555cf8879bac91b35bb643adadc749e	Enteropathy-type T-cell lymphoma (ETL) is an intraepithelial T-lymphocyte (T-@DISEASE$) @PHENOTYPICFEATURE$.	false
+469a517fdd661f2ae30e56589a89529b0ef02d9b	This article presents a rank order for the common causes of facial @PHENOTYPICFEATURE$ that present diagnostic difficulty, such as temporomandibular joint pain, trigeminal neuralgia, @DISEASE$, and post-herpetic neuralgia.	false
+5f622a135cda0c30082518dff2ffead439d365b5	The association of @DISEASE$ and @PHENOTYPICFEATURE$ is a rare occurrence.	false
+de304fc44106a42648ffdf2b11f5fdb5dab22e63	The classical presentation of @DISEASE$ (GCA) includes the new onset of headache, scalp tenderness, facial @PHENOTYPICFEATURE$ or jaw claudication in an older patient.	false
+8644c8a7a683758138e12208940ed9f4348fd558	Comparisons of clinical manifestations and prognosis between @DISEASE$ patients with or without @PHENOTYPICFEATURE$: A retrospective study of Chinese patients.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+95861ee0fed2bd102dbebb291498d303d0d37beb	An 81-year-old Japanese man presented with constitutional symptoms and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$ (GCA) and myelodysplastic syndrome (MDS) simultaneously.	false
+5789ec1b6c4b3235c14d147379c75cca695e121a	Ulcerative colitis and @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+0f99e6384e6cb4ec8a13c0764cad39c08a07f4ad	Bilateral uveitic @PHENOTYPICFEATURE$ occurred in a patient with @DISEASE$.	false
+551308d233682520c2b8da2fe34eba65c2c11169	Bilateral @PHENOTYPICFEATURE$ glaucoma occurred in a patient with @DISEASE$.	false
+e4fc724532b2fcfa716fc489121eb375ff4df3cd	@PHENOTYPICFEATURE$ is rarely associated with both ulcerative colitis and @DISEASE$.	false
+806cc183bb9183818e2740fcb34ad9bdf80f216b	@PHENOTYPICFEATURE$ is a rare but underrecognized complication of various forms of vasculitis such as Wegener's granulomatosis, polyarteritis nodosa, @DISEASE$ and Beh?et's disease.	false
+b424564bae7dd25d7a1145f114381d6bfcd569a7	Fiberoptic intubation complicated by @PHENOTYPICFEATURE$ in a 12-year-old child with @DISEASE$.	false
+371cc21b38351aed9dd95c84a3688b612b6c8d3c	HIV prevalence ranged from an absence in follicular or mantle cell lymphoma to a low prevalence in diseases like small lymphocytic lymphoma/chronic lymphocytic leukemia (4%) and pre-B/common ALL (5%) to a high prevalence in diffuse large B-cell lymphoma (80%), Burkitt lymphoma/@PHENOTYPICFEATURE$ (86%), and @DISEASE$ (100%).	false
+9eca378cd8ffe97b31feba3a7112d1782739719c	@DISEASE$ is a rare autosomal dominant transgradient type of PPK with high frequency of @PHENOTYPICFEATURE$ in the affected skin.	false
+c37c57776b59e2e19ec27ec1cf46839a25db6772	They exhibited @PHENOTYPICFEATURE$, mononeuritis multiplex, @DISEASE$, cutaneous lesions, leg ulcers, gangrene, anemia, leukocytosis, eosinophilia, high titers of RF, hypocomplementemia, and CICs or cryoglobulinemia approximately as frequently as other reported patients with rheumatoid vasculitis, but they displayed constitutional symptoms, subcutaneous nodules, ischemic changes, and proteinuria rather less consistently than in other series.	false
+76bf940c3219f26e6603c524bb6a2bab7d559644	@DISEASE$ (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and @PHENOTYPICFEATURE$, and cleft lip.	false
+8b318fd90e166e60dd1ca3c6a972349cab46ee2e	To provide genetic analysis for a family affected with @DISEASE$ (DMD) with a recurrent de novo @PHENOTYPICFEATURE$.	false
+5fecb9ab0cec5b9f2dfbd23ea20295b05f16f990	To provide genetic analysis for a family affected with Duchenne muscular dystrophy (@DISEASE$) with a recurrent de novo @PHENOTYPICFEATURE$.	false
+ee7a64fa305e817425fc58ac6ad49f4414ce3e93	Why @PHENOTYPICFEATURE$ is beneficial in @DISEASE$.	false
+bb49d9f9dbb3ededdfeff233d374564e90b8bccd	In @DISEASE$ (DMD), @PHENOTYPICFEATURE$ is a feature of unknown cause.	false
+fe2d63f1caac8092ffd16b37d360748021328da5	In Duchenne muscular dystrophy (@DISEASE$), @PHENOTYPICFEATURE$ is a feature of unknown cause.	false
+e62d40429681f3cb0fce758c99a770e5cbdf21ba	@PHENOTYPICFEATURE$ and pubertal delay in @DISEASE$.	false
+92a1d831d57f3e1db81bc540c6bb955d2ba4964e	@DISEASE$ (DMD) is an X-linked recessive genetic disorder with @PHENOTYPICFEATURE$ heterogeneity.	false
+ce6aef7d819e316890e1bbd14ff67a9bfe10ef75	Duchenne muscular dystrophy (@DISEASE$) is an X-linked recessive genetic disorder with @PHENOTYPICFEATURE$ heterogeneity.	false
+dcabc69132d8efe3956811c9eae4423e7d24ad89	@PHENOTYPICFEATURE$ in @DISEASE$: prevalence, significance and prognosis.	false
+667bdac462e30a2d750f3799a3857b4b96dc251c	@PHENOTYPICFEATURE$ in @DISEASE$: a study of 34 patients.	false
+cf22f5be4a41ea5a9f23205ee6dd1fb51fdf99c2	[Detection of a recurrent de novo @PHENOTYPICFEATURE$ in a Chinese family affected with @DISEASE$].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+0e28d3840a0c8bc23279e54f00aa41c1b5f11084	@PHENOTYPICFEATURE$: a common feature in @DISEASE$.	false
+19cf66c09d937be16c0303ee6016a4ab5517c306	@DISEASE$ with @PHENOTYPICFEATURE$ and abnormal MR findings.	false
+70ea48c022e117c6371ca4b1c2140c20246f6cef	Several inherited diseases result from C1C gene mutations, including @DISEASE$, Bartter's syndrome (types 3 and 4), Dent's disease, osteopetrosis, @PHENOTYPICFEATURE$, and lysosomal storage diseases.	false
+5a7baf60b664aa763f5d31af628ac2d7a9a357a2	@DISEASE$ in a patient who presented with diplopia and @PHENOTYPICFEATURE$.	false
+375c74044c64a94c1093a1ac12f3a0b9ca281eef	We encountered a case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+5006b8e6424955edf55fc9f64a136f6b12491185	In ZR75/@DISEASE$-3 @PHENOTYPICFEATURE$ a slight decrease in nucleoside triphosphate:Pi was observed following onset of estrogen stimulation after initial growth without estrogen.	false
+2f45e5544ecb9a3fd09569148e772f3a53748fcf	Compound 2 showed significant antitumor activity against Lewis lung carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ cells, with an IC50 value of 0.020+/-0.006	false
+e3b7a6a615aa3a8251c4992972db51e10426d885	In the present study, the expression level of the important tumor suppressor, transforming growth factor beta type II receptor (TGFBR2), was examined both in LCC and non-@DISEASE$ @PHENOTYPICFEATURE$, which include AdC, SqC and adenosquamous carcinoma (Ad-SqC).	false
+10325f44e995914b7aeb4331cc515565ef53e758	In the present study, the expression level of the important @PHENOTYPICFEATURE$ suppressor, transforming growth factor beta type II receptor (TGFBR2), was examined both in LCC and non-@DISEASE$ tumors, which include AdC, SqC and adenosquamous carcinoma (Ad-SqC).	false
+eaf84c8f9ed83955d8e667f4fb999f9f71e2e2d3	The mutation rates of oncogenes and @PHENOTYPICFEATURE$ suppressor genes also differ between RCC and @DISEASE$ patients.	false
+9438e4299bfb72bcc314ef004b9d111fe39de831	AAMS significantly inhibited the cell proliferation, cell migration and tumor growth in all the three LCC, while same concentration of free arginine promoted the @DISEASE$ @PHENOTYPICFEATURE$ growth and migration.	false
+fbb8f5bbab4065726d5e3024e3e12216ae0f579b	AAMS significantly inhibited the cell proliferation, cell migration and @PHENOTYPICFEATURE$ growth in all the three LCC, while same concentration of free arginine promoted the @DISEASE$ tumor growth and migration.	false
+0a367a9872aaa1585e0986905d34e52f1371c38a	A similar correlation was not found in liver or @PHENOTYPICFEATURE$ tissue samples from @DISEASE$ patients.	false
+5dfc3f04e84459b4f8ce2a199707c666416c6352	As expected, HA-CDDP exhibited much improved therapeutic effect than free CDDP in mouse @DISEASE$ @PHENOTYPICFEATURE$ model, whereas no apparent side effect was found.	false
+16bf76ec3be01b2cd6141a8d8f3279f2c9041b21	Reactive antigen was detected by immunohistochemistry in about 30% auf the samples from CH patients and in about 80% of the samples from @DISEASE$ patients regardless of whether @PHENOTYPICFEATURE$ or surrounding nontumor tissue was analyzed.	false
+887693eb206b85be16ea9279627a7521b00816c5	Weights of excised tumors were measured following euthanasia 18 days (melanoma) or 21 days (@DISEASE$) after @PHENOTYPICFEATURE$ cell administration.	false
+b49c7221a03a6fe043dafdd0094526a44eab5c90	Weights of excised @PHENOTYPICFEATURE$ were measured following euthanasia 18 days (melanoma) or 21 days (@DISEASE$) after tumor cell administration.	false
+43a8771052f979c0ff50d45e178a38614fd01915	Importantly, because LCC often distinguishes itself in the clinic by its aggressive nature, we argue that senescent TAFs may contribute to the selective aggressive behavior of @DISEASE$ @PHENOTYPICFEATURE$.	false
+c9a533ec8577206bc9f7254256da138f66e0ac36	The present study aimed to examine whether males and females are differentially vulnerable to Traumatic Dental Injuries in relation to emotion regulation, @DISEASE$ @PHENOTYPICFEATURE$ disorder symptomatology and behaviour problems.	false
+bbf703a90d0fa41d5c5a7156c2a414c200676b10	The patient had cryptorchidism, delayed development, dysmorphic features and @DISEASE$ @PHENOTYPICFEATURE$ disorder (ADHD).	false
+26c8590db8f26ad6da1196674b99c4ad31d0d3dd	The latter patient presented with an 8-year history of epilepsy, @DISEASE$ hyperactivity disease, and a @PHENOTYPICFEATURE$.	false
+536fef3afb77f040d5f9cae5231a8f2e423e652b	Impaired neurodevelopment leads to several psychiatric disorders, including @PHENOTYPICFEATURE$, schizophrenia and @DISEASE$ hyperactivity disorder.	false
+c62fad834b8424190bc7d9155fddf920b215bbb4	Impaired neurodevelopment leads to several psychiatric disorders, including autism, schizophrenia and @DISEASE$ @PHENOTYPICFEATURE$ disorder.	false
+6595b3f8ee098952572e1c4e552522378ff1b35a	Top marketed medications were for @DISEASE$/@PHENOTYPICFEATURE$ disorder and vaccinations.	false
+fe15c40833f584be0c0e14b87c7be1da8181d813	Disruptive behavior disorders, such as @DISEASE$/@PHENOTYPICFEATURE$ disorder and oppositional defiant disorder, are common and stable throughout childhood.	false
+dc85e9c23d5de3cb9994e2054809a3106d369b53	The number of FASI at baseline MRI was significantly less in patients with @DISEASE$ @PHENOTYPICFEATURE$ disorder and more if a first degree relative had NF1 or if they had decreased visual acuity.	false
+24d488539d68f0297c437419c73399cd5f8232cb	@DISEASE$ @PHENOTYPICFEATURE$ disorder and sphenoid bone fibrous dysplasia association in a boy: SPECT/SPECT fusion imaging.	false
+79f2bc1973d250b3a7e2fd4850ca0853256d5392	It was found that 9.6% of the patients with CP had snoring, 12.8% had sleepiness, 37.2% had @DISEASE$-@PHENOTYPICFEATURE$, and 18.1% had SRBD.	false
+91509f921735c00ecaf71a839ee7a21ac3a18d54	Most payments were associated with medications that treat @DISEASE$/@PHENOTYPICFEATURE$ disorder and vaccinations.	false
+571a296dab946d5961049927521931afeca76ff1	Our findings reaffirm the need for genetic analysis of patients with PHPT, especially those with younger age of disease onset; recurrent disease; and associated features like @PHENOTYPICFEATURE$, endometrial involvement, ossifying jaw tumors, or @DISEASE$.	false
+29c6983a1c6651bd65ee818f27df88f8ce7f9979	@DISEASE$ (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both @PHENOTYPICFEATURE$ and hyperpigmented macules.	false
+0b8aaa600abfb594206d5b0b7a4747efc9c92288	As a genetic disorder of @PHENOTYPICFEATURE$, the molecular basis of @DISEASE$ (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH.	false
+23378ad1195a64c11991ced7379f355ca87d7b20	@DISEASE$ (NPS) is an autosomal dominant genetic defect, which may be associated with, or closely linked to, the locus controlling palmar and plantar @PHENOTYPICFEATURE$ (HH).	false
+5eea8f40f0739ce61a43d3675e36edf76718f5ef	The means of Epworth sleepiness scale score, BMI and @PHENOTYPICFEATURE$/Hypopnoea index (@DISEASE$) were respectively 16 + 4, 38.8 + 7 kg/m2 and 51.7 + 28.6.	false
+bb8d8e57027d5c8a9b3ad78d64753b2ee704d45d	The lower limits of the UA obstruction were determined and their relationship with sleep stage, position, age, body mass index and @PHENOTYPICFEATURE$ hypopnea index (@DISEASE$) were investigated.	false
+f8889a76a8f2ea35289f7ed7d9598ea12ae42c6b	One of these viruses, AHS/4SP, consistently caused the pulmonary form of @DISEASE$ with rapid onset of severe @PHENOTYPICFEATURE$ and 100% mortality.	false
+e86af85d234521e74631f42f29ce507d9adea391	In complete @DISEASE$, sternocostoclavicular @PHENOTYPICFEATURE$ is associated with axial and/or peripheral (endosteal, periosteal, enthesopathic, metaplastic) hyperostosis and with psoriasiform or acneform dermatosis.	false
+ebd6d34a010940a944700dca8cc11def0138a325	In complete @DISEASE$, sternocostoclavicular hyperostosis is associated with axial and/or peripheral (endosteal, periosteal, enthesopathic, metaplastic) @PHENOTYPICFEATURE$ and with psoriasiform or acneform dermatosis.	false
+b7e50563b5dba59105057b8adc3ef39aabadbb0d	Body mass index (BMI) and the apnea/hypopnea index (@DISEASE$) were determined for categorization of obesity and @PHENOTYPICFEATURE$ status.	false
+dda69af4a3b775bcfed70d6a219937ee9e0fe2d0	An 8-year-old mentally retarded boy had paired segmental areas of hyper- and @PHENOTYPICFEATURE$ on the left side of his body in association with @DISEASE$ (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm.	false
+2f3ffd59e053271e9f9e9e8f7e1293fb5d27e0b5	@DISEASE$ (CMTC) is an uncommon congenital vascular malformation characterized by the presence of a localized or generalized pattern, frequently asymmetrical, with reticulated, @PHENOTYPICFEATURE$ or violaceous macules, present at birth or shortly thereafter.	false
+741aa918dc663373b3fd816661a1778c76bc62d6	Skeletal-muscle pathology can be caused by mutations in ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central-core disease), dihydropyridine receptors (@DISEASE$, @PHENOTYPICFEATURE$, muscular dysgenesis) or Ca(2+)pumps (Brody disease).	false
+6ccd0f5c0ab4ec6ac54a8c014f71eaae96406874	Inherited diseases of excitation-contraction coupling and muscle relaxation such as @PHENOTYPICFEATURE$, central core disease, @DISEASE$ or Brody disease are caused by mutations in these Ca2+-regulatory elements.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+d3b3ef7744faf543a87e539dbe38d21c3b694142	@DISEASE$ (HypoPP) and @PHENOTYPICFEATURE$ (MH) are autosomal-dominant genetically heterogeneous ion channelopathies.	false
+efad4809727ef9cc453f4a3f7884778b4449e85e	In very acute myositis, as in @DISEASE$ muscle @PHENOTYPICFEATURE$ and abscesses can be depicted.	false
+8c7795c494a00d2f36059f10842e15c08c5fb806	We described a 15-year-old boy with @DISEASE$ (GS), @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+310fd421e3733cccc9400220ebb571c0b1fc2738	Bilateral @PHENOTYPICFEATURE$ due to abdominal desmoid tumors can be a rare urologic complication of @DISEASE$.	false
+81e001366be9cf5d3b1f3303d3ea0610c1672f8c	[A case of @DISEASE$ with bilateral epididymis tumors, nasal polyp, bone anomalies and @PHENOTYPICFEATURE$ (author's transl)].	false
+48bf3fda7fbb319fde0cdd425f716358b69472b7	Chromosome analysis of blood cells from a 42-year-old white male with @PHENOTYPICFEATURE$, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible @DISEASE$ revealed a constitutional marker chromosome due to del(5)(q13q15) or del(5)(q15q22).	false
+9648ea1de3ca8b495823409e953480c90a802cf5	We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without @PHENOTYPICFEATURE$ and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in @DISEASE$.	false
+3f56b906d5fa5465f3f3fdd04f1af57aa2575004	We conclude that cytogenetic analysis is of no value in the management of families with typical familial adenomatous polyposis or @DISEASE$, and should be confined to those families with atypical features such as @PHENOTYPICFEATURE$ or facial dysmorphism.	false
+8156420f16b6b9f659fa8a228c15b8bb575101f8	The observation of @DISEASE$ case, in a six year old girl, referred to the hospital for @PHENOTYPICFEATURE$, provides the Authors with the opportunity of reviewing that important subject of the medical and surgical clinical pathology.	false
+ff6e3398b8b1aaf014628f148461274b4701219a	It will also capture the aspects that pertain to specific pain syndromes in CKD such as @PHENOTYPICFEATURE$, carpal tunnel syndrome, joint pain, and @DISEASE$.	false
+005dd4ec9174d3155a90623c2e4e6e9507cca350	In @DISEASE$ patients on hemodialysis, renal TAE was effective in improving abdominal fullness, appetite, heartburn and SF-36 scores (MCS and RCS scores), but not for @PHENOTYPICFEATURE$, constipation and physical strength (PCS score).	false
+7df7989d14fb3c18a420dc48a8c147487299ae3f	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, @DISEASE$, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+4b116ad5c582fde03a519c2033f62d053fdec5f9	X-linked @DISEASE$, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset @PHENOTYPICFEATURE$, hypsarrhythmia, and mental retardation.	false
+ed61358d1fa9a1456a128bc019c7416ed0b23202	Fifty-two percent of the children with TSC suffered from epilepsy ranging from absence epilepsy and @DISEASE$ to @PHENOTYPICFEATURE$ with a frequency of up to 40 per day.	false
+768f70218e852fd6525e6be18a701714467b091b	Half of epilepsy in spastic hemiplegia were partial seizures and the other half consisted of @PHENOTYPICFEATURE$, while generalized tonic-clonic episodes predominated in all other forms of C.P. A high incidence of @DISEASE$ was observed in patients with spastic tetraplegia.	false
+f39f1a1543164aa3308d0d67cab064f0c6bd583c	Although the infants with periventricular leukomalacia and West syndrome frequently demonstrated marked @PHENOTYPICFEATURE$ and delayed myelination, the atrophy of midbrain and pons was the most characteristic, and the damage may cause @DISEASE$.	false
+e0b0d33cea986fc7bc38ea001f7eea31cc2196a1	Although the infants with periventricular leukomalacia and @DISEASE$ frequently demonstrated marked @PHENOTYPICFEATURE$ and delayed myelination, the atrophy of midbrain and pons was the most characteristic, and the damage may cause West syndrome.	false
+4422655fff0935d7aa1760b3199fcc516cb29e9b	Total callosotomy for a case of lissencephaly presenting with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d1541b50fdefe01fe6250f42ba161a7aaadd8ce1	patients (11 with partial seizures, 26 with @PHENOTYPICFEATURE$ of whom 9 had @DISEASE$ and 17 Lennox-Gastaut syndrome) followed for 15+/-3 months, 43% had a >50% decrease in seizures (including 15% seizure free, 229+/-58 compared with 104+/-3 seizures/month, P=0.035: generalized 246+/-318 to 117+/-200, P=0.025, partial 191+/-437 to 72+/-179, P>0.05; power=0.2).	false
+cb33873a53b0ec2dead41e9cb38dafef9ce91a98	Epileptic spasms (ES) in @DISEASE$ (WS) are classified as being of the @PHENOTYPICFEATURE$ type.	false
+f4bdb5ac4b8bd74aae8c57b2e8bc686fcd39ffe2	These include vigabatrin in @DISEASE$ associated with tuberous sclerosis, lamotrigine as alternative to valproate in idiopathic @PHENOTYPICFEATURE$ in women of childbearing potential and lamotrigine for the treatment of epilepsy in the elderly population.	false
+839568ccedc0ec07ecd15c9ccf8e457ad40a9e1d	The 11 topics presented in this paper are: (1) alteration of dura mater associated with advanced aging; (2) orderly arrangement of tumor cells in leptomeningeal carcinomatosis; (3) horizontal section of brain with border zone infarct; (4) neurofibrillary tangle formation in the nucleus basalis Meynert ipsilateral to a massive cerebral infarct; (5) extracellular spread of hematogenous @PHENOTYPICFEATURE$ fluid in the white matter: (6) unrolled myelin sheath: (7) unattached presynaptic terminals in @DISEASE$: (8) unattached post synaptic terminals in agranular cerebellar degeneration: (9) neurofibrillary tangles and Lewy bodes in a single neuron: (10) Cu/Zu superoxide dismutase positive Lewy body-like hyaline inclusions in anterior horn cells in familial motor neuron disease: (11) Hirano body.	false
+c99a3ea20392f9611879f6638a0b12498b0f0b92	MAF mutations have been reported to cause juvenile-onset @DISEASE$, microcornea, iris coloboma, and other @PHENOTYPICFEATURE$.	false
+99f7a57c1b00dc28649f87d730f957cc78ffe476	Rapidly progressive endomyocardial fibrosis and @PHENOTYPICFEATURE$ in a 17-year-old female with @DISEASE$.	false
+94beba70de1a0d8efd5f6df8ebe8c5211506c481	Acute right @PHENOTYPICFEATURE$ and achalasia-like syndrome in a patient with @DISEASE$ and primary biliary cirrhosis.	false
+3344e02c28c2d621c9c50eac6afb4a28ddd2c937	We report a case of a 63-year-old woman who developed acute right @PHENOTYPICFEATURE$ and an achalasia-like syndrome with @DISEASE$ (lcSSc) and primary biliary cirrhosis.	false
+7e338c7cbb889e4efe9123c529fcf35a00fc24b1	[Effect of halofenate on triglyceride and uric acid levels, coagulation and platelet behaviour in patients with @DISEASE$ and @PHENOTYPICFEATURE$ (author's transl)].	false
+786822f81d2f0f6ec5e750a141c99df6a265b1b8	Middle @PHENOTYPICFEATURE$ might be highly associated with @DISEASE$.	false
+740ef1659af42bf4e037dfc62d838254919ae441	Knowledge of specific tumor characteristics and treatment options for osteosarcoma, Ewing's sarcoma, chondrosarcoma, malignant fibrous histiocytoma, @PHENOTYPICFEATURE$, and @DISEASE$ is important.	false
+bcff43d1dfc6a82e6ee192038c4ab0bc633ab2db	@DISEASE$ is a rare @PHENOTYPICFEATURE$ of unknown origin with epithelial and fibrous elements.	false
+135462c18e4cc7091cb984cc640d9edaae65126f	@DISEASE$ of the long bones is a rare @PHENOTYPICFEATURE$ and its MR features have seldom been reported.	false
+b4dc85038bbb8b7514ab019ce4942abbd93445db	Little or no SMA was noted in Langerhans cell histiocytosis, simple bone cyst, Ewing's sarcoma, osteoblastoma, osteoid osteoma, enchondroma, osteochondroma, chondrosarcoma, myeloma, lymphoma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+955e7326180d04633c6e1603d2af17f035d3c502	These include osteosarcoma, chondroblastoma, @PHENOTYPICFEATURE$, @DISEASE$, Ewing's sarcoma, and primitive neuroectodermal tumor.	false
+d10f353713600de8faf276419e9ac231e86ddb7e	Evidence was presented of the close relation among epidermoid and dermoid tumor, craniopharyngioma, ameloblastoma (@DISEASE$), Rathke's cleft cyst, and aural @PHENOTYPICFEATURE$.	false
+f4089885cb4933c1bc005b289bba422c42669b59	Epithelioid and epithelial neoplasms seen in bone are rare and include epithelioid variants of vascular lesions, osteoblastoma, osteosarcoma, @PHENOTYPICFEATURE$, and chondroblastoma as well as @DISEASE$ and metastatic carcinoma.	false
+79fb40a104ebcf2cfc25e4ac823d0c63daba0a15	@DISEASE$ with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and @PHENOTYPICFEATURE$ caused by cone-rod dystrophy.	false
+b8218118746240eea176a73804f969086b4b5790	The main, but not sole, indication for an Ex-utero intrapartum treatment (EXIT) is airway obstruction due to @DISEASE$ and @PHENOTYPICFEATURE$ in the head and neck region.	false
+355e9547fae2d8b7d48c552876763c198459d5c1	The main, but not sole, indication for an Ex-utero Intrapartum Treatment (EXIT) delivery is an airway obstruction due to either @DISEASE$ or @PHENOTYPICFEATURE$ in the head and neck region.	false
+1b1fd29374d7db2591574c5c4713fb3d2d8f3f0e	Unilateral cryptophthalmos (with syndactyly, @DISEASE$ and @PHENOTYPICFEATURE$).	false
+e6de216ab390a9376b96c2ad50611482ce13f0a4	We report a case of @PHENOTYPICFEATURE$-like cutaneous @DISEASE$ caused by Rhizopus arrhizus.	false
+88fa93db34dad9dfbf61e30c50fa195683c01cf4	In addition to the previously reported features of @DISEASE$ this report also describes some additional findings including hyperextensibility at the distal interphalageal joints, bilateral thumb duplication, bifid toenails, symptoms of urinary retention, vesicoureteric reflux, prominent ears, conductive hearing loss, and an @PHENOTYPICFEATURE$ of a patch of hair in the midline of the neck.	false
+2c05d3e5cd8a8490131539c6a59d7bf871132897	This prospective study recorded the anthropometric data and measured the circulating IGF-I, free thyroxin (FT4), and thyrotropin (TSH) of 27 infants and children with congenital acyanotic heart disease with left to right shunt (10 with VSD, 8 with @DISEASE$ PDA) without @PHENOTYPICFEATURE$, or severe pulmonary hypertension, before and 12 months or more after surgical or catheter intervention.	false
+2757956e3b2facd6bea3159fbad72c5fee75e443	Circumscribed acral hypokeratosis (@DISEASE$) is characterized by solitary or multiple circular, depressed, slightly @PHENOTYPICFEATURE$ patches on the palms or soles.	false
+64057a256d6ddb67de24637e71a8f7396437b024	Although seizures in CAH have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between @DISEASE$ and @PHENOTYPICFEATURE$ on the chromosome 6.	false
+e0b5c586a85e77005db6f295b83ee8463a368b6b	Although seizures in @DISEASE$ have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between CAH and @PHENOTYPICFEATURE$ on the chromosome 6.	false
+ac607ef5c9c68cc2ff6413d212ae97e0ce8375ff	A 43-year-old man with @DISEASE$ who complained about @PHENOTYPICFEATURE$ and sleep bruxism was diagnosed as obstructive sleep apnea (OSA) by polysomnography (PSG).	false
+d9eeae12068a01ad55667899c8eabbdd7ce2e2b9	The known variant phenotypes are @DISEASE$ (Pseudo-Morquio type 2), parastremmatic dysplasia, and familial digital arthropathy with @PHENOTYPICFEATURE$.	false
+626005dbdfa2eaa9f9d1d1a31aed06fd1da94947	@DISEASE$ (CV) associated with viral hepatitis C (VHC) is halfway between classical autoimmune disease and @PHENOTYPICFEATURE$.	false
+efa7392e45cd3dd0ff819cab9c0a40bfff5b1dc1	In Sj?gren's disease, Graves' disease, and @DISEASE$, which are also associated with the development of B-cell @PHENOTYPICFEATURE$, clonal B-cell expansions have been detected.	false
+927ff5153e72eb422ec7e489b55151543b591410	The new biologic therapies that work via cytokine blockade or lymphocyte depletion such as @PHENOTYPICFEATURE$ alpha inhibitor infliximab and the anti-B-cell antibody rituximab, respectively, are showing benefit in certain settings such as Wegener's granulomatosis, antineutrophil cytoplasmic antibody-associated vasculitis, Beh?et's disease, and @DISEASE$.	false
+7d408275a192971c9c167ed052b31a366baacc93	In the other patient (case 2), @PHENOTYPICFEATURE$ and seizures developed in the setting of previously documented @DISEASE$ (type II), membranoproliferative glomerulonephritis, and hypocomplementemia.	false
+e7fbc64adf653e64f504012288ccdb2935b32b19	HCV chronic infection leads to liver diseases and also to a wide range of extrahepatic disorders including benign, but pre-lymphomatous forms (@DISEASE$) to frank hematological @PHENOTYPICFEATURE$ (non-Hodgkin's lymphoma).	false
+8e5fc2a4d945de92f785a408a893f3a9d312c129	@DISEASE$ is associated with increased risk for death, or @PHENOTYPICFEATURE$ in HIV-1 infection.	false
+a9ec7246016c94e2b38056f4baaa3d41cb6a7a27	Adolescent-onset schizophrenia (@DISEASE$) is associated with @PHENOTYPICFEATURE$ and poor clinical outcome.	false
+74cce0f1adfe6e57b943fa9d7c9c3045efac50ba	Clinical pathologic case report: A 70-year-old man with inflammatory @DISEASE$ causing headache, @PHENOTYPICFEATURE$, and aphasia.	false
+f305fe08f4fbf80b6f9c275797066e6636134752	@DISEASE$ (CAA) is a major cause of lobar intracerebral hemorrhage and @PHENOTYPICFEATURE$ and is associated with white matter hyperintensities and cerebral microbleeds.	false
+fc3c572db43a14e3963d94ad3a68cc8d02b7f2aa	Tissue microstructural changes are independently associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4bd13058107395525a299e678ac3220bfc51c6dd	We will collect and analyze data from patients' age???50 with any potential sporadic cerebral amyloid angiopathy-related clinical presentations (spontaneous intracerebral hemorrhage, transient focal neurological episodes and @PHENOTYPICFEATURE$), available brain MRI ("index test"), and histopathologic assessment for @DISEASE$ ("reference standard" for diagnosis).	false
+8e69b80dd0bdf87317fea76c688bdcfa597f991b	We will collect and analyze data from patients' age???50 with any potential sporadic @DISEASE$-related clinical presentations (spontaneous intracerebral hemorrhage, transient focal neurological episodes and @PHENOTYPICFEATURE$), available brain MRI ("index test"), and histopathologic assessment for cerebral amyloid angiopathy ("reference standard" for diagnosis).	false
+6435954d62832a652ddec96e96746c28338d85df	Autopsy studies suggest that @DISEASE$ (CAA) is associated with @PHENOTYPICFEATURE$ and risk for dementia.	false
+4447fe9c91f3a485a502cc8817bd9a4dac699163	In addition to its role in hemorrhagic stroke, advanced @DISEASE$ (CAA) is also associated with ischemic lesions and vascular @PHENOTYPICFEATURE$.	false
+776825d8b0b5b1205c27c88795ab29bd5d3279f6	Efforts are underway for early-phase trials of candidate treatments for @DISEASE$, an untreatable cause of haemorrhagic stroke and vascular @PHENOTYPICFEATURE$.	false
+b64d052682c15bd5292d643ab6edadeb09d9e919	Cerebral microbleeds (CMBs) are a marker of small vessel diseases, including hypertensive arteriopathy and @DISEASE$, and may be associated with @PHENOTYPICFEATURE$.	false
+07b336f81310ba5ee74f87ecfc02de1caf5acfd1	@DISEASE$ is a common neuropathological finding in the ageing human brain, associated with @PHENOTYPICFEATURE$.	false
+1c04a2beb01e808d6fea228d0999ab8366ce3cde	Though the clinical significance of these lesions remains uncertain, their distribution and prevalence correlates with @DISEASE$ (CAA), hypertension, smoking, and @PHENOTYPICFEATURE$.	false
+9e8ddc910d100a4c84e48fd13e90788b9e9d6709	A cross-sectional regression model based only on Twitter language predicted @DISEASE$ mortality significantly better than did a model that combined 10 common demographic, socioeconomic, and health risk factors, including smoking, diabetes, hypertension, and @PHENOTYPICFEATURE$.	false
+84dfaab3e543591dacc212c431e0775fff4fd59a	@DISEASE$ may be predicted by clinical factors, including advanced age, ischemic cardiomyopathy, more severe @PHENOTYPICFEATURE$ status (New York Heart Association class III/IV, lower ejection fraction), associated comorbidities (diabetes mellitus and chronic obstructive pulmonary disease), presentation with VT storm, and use of general anesthesia.	false
+76d6175beb620d8e79e25abba0e3779c4ceeee18	Out of the 1000 patients with @PHENOTYPICFEATURE$ enrolled in the CCRC, 917 (91.7%) had CHD and the rest had @DISEASE$.	false
+2a5f350f523c465867e865f930329cb5021154e8	Because of the well-known phenotypic variability associated with pathogenic CNVs, we conducted whole genome genotyping to detect CNVs and then focused on a group of 46 rare CNVs that had well-documented risk for adult onset schizophrenia (@DISEASE$), @PHENOTYPICFEATURE$, epilepsy and/or ID.	false
+9e969594eb3225f9874ac0b19c4b1b66b56acfce	All patients had @DISEASE$ based on reduced diadochokinetic rate, 69% of cases had an abnormal orofacial apraxia score and 44% of cases (including the three CBS cases and one case with PSP) had an @PHENOTYPICFEATURE$ apraxia score.	false
+650ae55e90a833de1088d2d71ca129d32e9588c2	These findings show dysfunctional resting-state connectivities of the right STG and MTG with decreased gray matter volume in adolescents with AOS, suggesting that @PHENOTYPICFEATURE$ may be present in @DISEASE$.	false
+5564759c38f1921de926854bd550f974ae556083	These findings show dysfunctional resting-state connectivities of the right STG and MTG with decreased gray matter volume in adolescents with @DISEASE$, suggesting that @PHENOTYPICFEATURE$ may be present in AOS.	false
+0763ac4aeade50b3a81f6b0bf554fb04df27faf9	The treatment of NASH with hepatoprotectors and antioxidant I in the sufferers of the Chornobyl accidentincreased the level of antioxidant defense products (catalase and superoxide dismutase) with the normalization ofthe integral index of the AOS, and a significant decrease in the number of patients with reduced @DISEASE$ status (from42.6% to 24, 2%, p <0.05), positive dynamics of biochemical parameters of blood with decreasing frequency ofdetection of cholestasis syndrome, @PHENOTYPICFEATURE$ and hyperglycemia were established as well as the positivedynamics of structural changes in the liver according to ultrasound data.	false
+613ce453f3ce9565bd1228bacc20b2f744427aad	The treatment of NASH with hepatoprotectors and antioxidant I in the sufferers of the Chornobyl accidentincreased the level of antioxidant defense products (catalase and superoxide dismutase) with the normalization ofthe integral index of the @DISEASE$, and a significant decrease in the number of patients with reduced AOS status (from42.6% to 24, 2%, p <0.05), positive dynamics of biochemical parameters of blood with decreasing frequency ofdetection of cholestasis syndrome, @PHENOTYPICFEATURE$ and hyperglycemia were established as well as the positivedynamics of structural changes in the liver according to ultrasound data.	false
+9094868a3ec49710a9d2ab5a40e4b30ecbd92cf9	The @DISEASE$ is frequently complicated by @PHENOTYPICFEATURE$.	false
+e11a211e250f0530e3212388f9be2a5b47ed97a7	Without treatment, the life expectancy of patients with @DISEASE$ is reduced by the associated @PHENOTYPICFEATURE$.	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	false
+e11a211e250f0530e3212388f9be2a5b47ed97a7	Without treatment, the life expectancy of patients with @DISEASE$ is reduced by the associated @PHENOTYPICFEATURE$.	false
+96119c8a04444bb4408af1e3aa00e431cc355278	Cardiovascular manifestations in patients with Marfan syndrome (@DISEASE$) are related to aortic and @PHENOTYPICFEATURE$.	false
+c1c9fcc42f40a0c266e1ca3f1adb043b1501b5b8	Cardiovascular manifestations in patients with @DISEASE$ (MFS) are related to aortic and @PHENOTYPICFEATURE$.	false
+90d0d74ff355f799c52e9b03201a92e02233d92f	The Marfan syndrome (@DISEASE$) is a heritable connective tissue disorder characterized by skeletal, ocular, and @PHENOTYPICFEATURE$.	false
+d22a33df00cff92c8fb1e6fcb2d6cb92f603fc2e	The @DISEASE$ (MFS) is a heritable connective tissue disorder characterized by skeletal, ocular, and @PHENOTYPICFEATURE$.	false
+3527504ee3d799d03a158b7de0c8440d27a864a6	[@PHENOTYPICFEATURE$ in @DISEASE$; an echocardiographic study].	false
+8aef04bc6b25976ba01fe124cc9645d8916eecb2	@DISEASE$, arachnodactyly, and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+7fe31c0f121a3bb8bebb6c7d861530cb6053a498	@DISEASE$ is a hereditary disease that presents ocular, skeletal, and @PHENOTYPICFEATURE$.	false
+cd4be39325a359bb2e04561df87fa4389e0e9e4b	Anterior sacral meningocele (@DISEASE$) is a rare form of @PHENOTYPICFEATURE$ in children.	false
+89740d70af242211ec6d387c6f3b5f747fd6ad57	@DISEASE$ frequently is found associated nonspecifically with tracheoesophageal fistula, cleft lip and cleft palate, and @PHENOTYPICFEATURE$.	false
+cbdf15ff0e97351d4d8da0fc9dcba1df9794023a	@DISEASE$ cerebral @PHENOTYPICFEATURE$ after cardiac catheterization.	false
+9810fa0b383dcf927a35319a0292faf176458908	Retinal vascular occlusive disease is the second leading cause of @DISEASE$ retinal @PHENOTYPICFEATURE$.	false
+2532410d96c5a25cfdb1c6ab16bd97aad85b54ee	Venous occlusive disease is the second leading cause of @DISEASE$ retinal vascular @PHENOTYPICFEATURE$.	false
+f546f927bd11108d72652c5d521391c330d88108	Although the incidence is rare, @PHENOTYPICFEATURE$ and @DISEASE$ visual loss may occur.	false
+3f5a5b7657e8afebb3ea978e08bffdd866afbc02	@DISEASE$ @PHENOTYPICFEATURE$ may result if early diagnosis is not made and treatment carried out.	false
+5924b11c7403fb9cdcc0c10bdba4256d10409333	@DISEASE$ @PHENOTYPICFEATURE$, is a very rare, but devastating complication of simultaneous bilateral neck dissection.	false
+51f35106581c7dd4221aa40039ef962ef8cfae74	@DISEASE$ visual loss and @PHENOTYPICFEATURE$ are common sequelae because of delayed diagnosis and treatment.	false
+1f1b0bc986985cce94b13802c55cc55a22d43695	Treatment not causing @DISEASE$ @PHENOTYPICFEATURE$ was considered effective.	false
+43241257537c2c3f37c7b75b535a3de13bfd546c	Delayed treatment may cause @DISEASE$ bilateral @PHENOTYPICFEATURE$.	false
+eecc80f6e999671895005dcc36553a63f973b0f8	We present a patient who developed @DISEASE$ cerebral @PHENOTYPICFEATURE$ after undergoing transfemoral cardiac catheterization.	false
+912ad8133a42ad6593dce3e695bb5ca0ff539281	@DISEASE$ (HHT) is associated with a high incidence of pulmonary arteriovenous malformations (PAVMs), which can be the underlying cause for @PHENOTYPICFEATURE$ or brain abscess.	false
+43f4ec333f77ae1e25ffbb84ddf3cc6cc0b6cf90	Hereditary hemorrhagic telangiectasia (@DISEASE$) is associated with a high incidence of pulmonary arteriovenous malformations (PAVMs), which can be the underlying cause for @PHENOTYPICFEATURE$ or brain abscess.	false
+15f3df8bf9f622edde893c3aea9bd79a2c624f8d	Olfactory schwannomas of the anterior cranial base (ACB) are rare @PHENOTYPICFEATURE$, and their association with @DISEASE$ (HHT) has not previously been described.	false
+21c8490cdd1ca77431e79425ff920a0f9773cb19	Olfactory schwannomas of the anterior cranial base (ACB) are rare @PHENOTYPICFEATURE$, and their association with hereditary hemorrhagic telangiectasia (@DISEASE$) has not previously been described.	false
+f7a33f604059b68bf5d16c2bf6ea7ecde3a84f77	A 76-year-old woman with @DISEASE$ (HHT) showed elevated serum hepatobiliary enzyme levels, and abdominal imaging studies revealed a hepatic @PHENOTYPICFEATURE$.	false
+1842707ab7a1581cb832f55e2f1ec254f383b3df	A 76-year-old woman with hereditary hemorrhagic telangiectasia (@DISEASE$) showed elevated serum hepatobiliary enzyme levels, and abdominal imaging studies revealed a hepatic @PHENOTYPICFEATURE$.	false
+5452d492a040bccfb4a8c9b6e21674c3f8e464c1	This region is frequently deleted in @PHENOTYPICFEATURE$ and encompasses the locus for the @DISEASE$ gene.	false
+db354abd1f40add38bb0bc01eedf55e872601596	Treatment outcomes and patterns of radiologic appearance after hypofractionated image-guided radiotherapy delivered with helical tomotherapy (@DISEASE$) for lung @PHENOTYPICFEATURE$.	false
+fc9aef557e8ee13ab6fbad84b6937d9b80841473	Main symptoms before embolisation were dyspnoe (86%), hypoxaemia (100%), @PHENOTYPICFEATURE$ (21%), and hemoptysis (14%); 11 patients (79%) suffered from @DISEASE$.	false
+4f4d9d1a15849d240a9d58904e4e39aba64b29f3	Specifically, we image acute oxygenation fluctuations in a @PHENOTYPICFEATURE$ microvessel network, the development of arteriovenous malformations in a mouse model of @DISEASE$, and the formation of spontaneous and induced microvascular thromboses and occlusions.	false
+7ea3f426504bcbebe14846a134dc5e80d1c1881a	Recent research has provided exciting insights into the role of the TGF-beta type I receptor (ALK1) in @PHENOTYPICFEATURE$ angiogenesis and the curative effects of thalidomide on vascular malformations in hereditary hemorrhagic telangiectasia (@DISEASE$).	false
+6ab19ead8e2ca7c3cef1c2815073fda75774fb25	Recent research has provided exciting insights into the role of the TGF-beta type I receptor (ALK1) in @PHENOTYPICFEATURE$ angiogenesis and the curative effects of thalidomide on vascular malformations in @DISEASE$ (HHT).	false
+70963db58727f44879b186933a3ba5c9eb71506c	Endoglin, an endothelial biomarker involved in the processes of development, vascular homeostasis, and altered in diseases, including @DISEASE$ type 1 and @PHENOTYPICFEATURE$ angiogenesis, was the selected target.	false
+fe3f969952016ff4ccbb2797c21a3aa5b91cd37e	Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a @PHENOTYPICFEATURE$ but was composed of abnormal vessels associated with @DISEASE$.	false
+31770d461ad599368448dca6370299c099290807	The author reports a child with suprasellar region @PHENOTYPICFEATURE$ who presented with depression and @DISEASE$ and received a combination of sertaline (selective serotonin reuptake inhibitor) and clomipramine (tricyclic antidepressant).	false
+e41cc0137dbfb9d18da8ef74c2dc76f1f3b506db	As @PHENOTYPICFEATURE$ necrosis factor (TNF) is known to play a seminal role in coordinating the humoral immune response, TNF gene polymorphisms have been proposed as genetic risk factors both in @DISEASE$ (OCD) and Tourette syndrome (TS).	false
+32c4943d243f3c6b88794497f89720e9180e3663	We identified phase one trials investigating utility of FUS in: movement disorders (including essential tremor and Parkinson's disease), chronic pain, @DISEASE$ and cerebral @PHENOTYPICFEATURE$.	false
+aba723635ac23f7e532120c8e4447dd8b7353054	@DISEASE$ with juvenile @PHENOTYPICFEATURE$ epilepsy: A case report.	false
+f3d9dcd52ee16934acb258ffce0751c40f06310b	At admission and discharge from hospital (on average, after 28 days), the following measures were compared between the group of patients with FM and the other patients: body weight, body mass index, functional independence (@DISEASE$), @PHENOTYPICFEATURE$-related disability (TSD-OC), self-reported functioning and the Timed-Up-Go (TUG) test.	false
+f31ac6bbf50c9aa993783a9e06109bb33844cfe6	It is hypothesized that the modest efficacy of available OA treatments is a result of inclusion of @PHENOTYPICFEATURE$ groups of @DISEASE$ patients in clinical trials.	false
+fcf378e1d80cfddf37841d11b66ad3b952e8e58c	In order to explore rationally the medical potential of the plant biodiversity of the Central and South American region as a source of novel antiparasitic molecules, a multinational Organization of American States (@DISEASE$) project, which included the participation of multidisciplinary research centers from Argentina, Bolivia, Colombia, @PHENOTYPICFEATURE$ Rica, Guatemala, Nicaragua and Panama, was carried out during the period 2001-2004.	false
+bde83708cda6b58b258282fde985b2ce9b407861	The @DISEASE$ syndrome is characterized by general dysmaturity and the following features: muscular hypotonia; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; @PHENOTYPICFEATURE$ and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+ff1237938ec404505b133e17e5389aa00baf25ac	@DISEASE$ is a rare, autosomal recessive disorder which causes @PHENOTYPICFEATURE$ associated with severe physical handicaps, but is compatible with survival into adulthood.	false
+2189d0e12e13c8c0d8ddfcfdcf7ec31068e9f412	Females affected by @DISEASE$ (FXTAS) demonstrated milder brain changes than affected males, although they showed a similar pattern of radiologic findings consistent with @PHENOTYPICFEATURE$ and white matter disease.	false
+cca4d6b7d6b79496d2e99fa59047437e15260476	We present a case report of an 80-year-old man with @DISEASE$ (FXTAS) and acquired diplopia, strabismus, and other @PHENOTYPICFEATURE$.	false
+5c1ccec460a5154af2964d142cfede5b0a83ca84	Ten patients, who suffered from @PHENOTYPICFEATURE$ because of @DISEASE$, were scanned using the 32-channel head coil.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+7006dc74f44af4607cbb43f513db7f6d8f839365	@DISEASE$ (FXTAS) is a late-onset inherited neurodegenerative disorder characterized by progressive intention tremor, gait ataxia and dementia associated with mild @PHENOTYPICFEATURE$.	false
+6592b0ce9b5e36f49925b9515eb1b579e226a170	In @PHENOTYPICFEATURE$, idiopathic @DISEASE$ and normal muscle we could not find such an exclusive perifascicular expression of the Leu 19 antigen.	false
+c613fd2b42f3c938ab74f8ffe88d57f09417ec78	Hepatocellular Carcinoma-Associated @DISEASE$ Presenting With Unilateral Upper Limb Subcutaneous @PHENOTYPICFEATURE$.	false
+1ad06f6b04ac0c34855336984e97bc031a12743e	Skeletal muscle biopsy specimens of five patients with sIBM, two with oculopharyngeal muscular dystrophy (OPMD), three with @DISEASE$ (PM), three with dermatomyositis (DM), three with @PHENOTYPICFEATURE$, and three healthy control subjects were examined.	false
+a1738c031a71a2d5eb56aa8d5d7a1af9387c24e6	We observed elevated ORs for @PHENOTYPICFEATURE$ and certain structural defects affecting the gastrointestinal, genitourinary and musculoskeletal systems (e.g., OR [95% confidence interval] [highest exposure vs. unexposed] for tracheal esophageal fistula/esophageal atresia?=?1.98 [0.69, 5.66], and OR for @DISEASE$.70 [1.34, 2.14]).	false
+b2ea79e815d33bc842de9a923f42bd058b9462b4	Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical @DISEASE$ (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and @PHENOTYPICFEATURE$, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.	false
+e0425dee756b1c0e72b4625c798bae9b5405d57c	To expand the spectrum of @DISEASE$ syndromes with a novel clinical and radiological phenotype not associated with @PHENOTYPICFEATURE$.	false
+977c17ac8380b46069e29f85b798c507ceeae68d	GLUT-1 deficiency syndrome (@DISEASE$) is a disorder of cerebral glucose transport associated with early infantile epilepsy and @PHENOTYPICFEATURE$.	false
+eff6f52bf23e819b10688a7c05f154f0dc22af0e	@DISEASE$ (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and @PHENOTYPICFEATURE$.	false
+4ab484a88d69a917474040bb7d0f9ac87af0ce92	Cerebral 18F-fluorodeoxyglucose positron emission tomography in 14 patients with @PHENOTYPICFEATURE$, developmental delay, seizures, and mutations of the glucose transporter Glut1 (@DISEASE$) showed distinct abnormalities.	false
+71e079c63b6defeea9f5cd9f063b4e0f8eacd930	@DISEASE$ is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, @PHENOTYPICFEATURE$ and seizures.	false
+9f9d588fd887f670d8695c3392a13706c1aefb1b	Diseases treated were: Leigh syndrome (n=7), polymerase ? deficiency (n=5), MELAS (n=5), Friedreich @PHENOTYPICFEATURE$ (n=2), Kearns-Sayre syndrome, Pearson syndrome, and @DISEASE$.	false
+ad3e6a07367af3acff3e9f14b761cb014359b637	Recently identified nuclear gene mutations of mitochondrial proteins include mutations of frataxin causing Friedreich's @PHENOTYPICFEATURE$, PINK1, DJ1 causing Parkinson's disease and POLG causing infantile @DISEASE$, ophthalmoplegia, parkinsonism, male subfertility and, in a transgenic mouse model, premature senescence.	false
+dd6d6cd6d10197350e9f8301b88773b02cdb62a1	Phenytoin hypersensitivity syndrome (@DISEASE$) is a rare, and important entity characterized by rash, @PHENOTYPICFEATURE$, lymphadenopathy, leukocytosis with atypical lymphocytes, eosinophilia and associated hepatitis.	false
+6b7329ac2c87654b8bee8da0dbe239e0f87f03d4	Herein we report two @DISEASE$ families with frameshift mutations in GLI3 that are 3' of the zinc finger-encoding domains, including one family with a de novo @PHENOTYPICFEATURE$.	false
+59264ef0023ed7274ab183562f5651fa09214fc0	The co-existence of neuro-@DISEASE$ (NCC) and intracranial @PHENOTYPICFEATURE$ in an individual is a rare entity.	false
+c337eb82b54decf81b307db2eb71fd00cccceeec	@DISEASE$ is the most common parasitic disease of the central nervous system but is occasionally misdiagnosed as @PHENOTYPICFEATURE$ because of the varying neuroimaging presentation.	false
+b771ab5fa8d1996c4672a003e420a6aaf5bdff40	@DISEASE$ in a European traveler returning from India primarily suspected as @PHENOTYPICFEATURE$.	false
+74e64c1dee4497459473a79622c297d7f2aa3fd5	Six of the 8 patients with @DISEASE$ and a cerebral glioma had calcified parasitic lesions within and around the @PHENOTYPICFEATURE$.	false
+89ad88352f5f41853f95f72262584f67b562e0e2	The present essay is illustrated with magnetic resonance images obtained at the authors' institution over the past 15 years and discusses the main imaging findings of intraventricular @PHENOTYPICFEATURE$-like lesions (colloid cyst, oligodendroglioma, astroblastoma, lipoma, cavernoma) and of inflammatory/infectious lesions (@DISEASE$ and an atypical presentation of neurohistoplasmosis).	false
+660362510fd4b9ee0fac7febb5230b25edf556e2	The samples were from three groups: A) 29 patients with @DISEASE$ (NC), B) 36 patients with different neurologic disorders (neurosyphilis, neurotuberculosis, meningitis, @PHENOTYPICFEATURE$, hemorrhage) and C) 21 discharged individuals who had been hospitalized for bacterial meningitis.	false
+6b2b0c76822c09875d8c88b2bd35908f2a2d1269	The most common lesion type was infection and inflammation (28%), with @DISEASE$ being the most common, followed by mesial temporal sclerosis, ischemia, and @PHENOTYPICFEATURE$.	false
+9b0301798cb2390b0da2fefcf2d6c2b19db3f36b	@DISEASE$ in a European traveler returning from India, primarily suspected as @PHENOTYPICFEATURE$.	false
+0c4aad4c1dc756879744f89cbe8bdc75880e5819	[Electrophoretic study of @PHENOTYPICFEATURE$ extracts, liver and spleen extracts and blood of @DISEASE$ sarcoma-bearing rats].	false
+eacdff534e9148951065ef89843eb0fe9cb0793f	Without IFA staining, the balamuthiasis cases in our study would have been diagnosed as @DISEASE$, @PHENOTYPICFEATURE$, tuberculosis, or viral encephalitis or would have been undiagnosed.	false
+553edafa1eca0c2cd493e0189060d1063e9dd5fc	The symptoms associated with @DISEASE$- or @PHENOTYPICFEATURE$ may be atypical in the geriatric population, therefore, elderly patients need to take extra precautions on sick days to avoid diabetic crises.	false
+66b10ca85d88bd4e88670b603c89bd8ee1602384	Laboratory tests revealed myoglobinuria, @DISEASE$-pancreatic type amylaseuria, @PHENOTYPICFEATURE$, azotemia and highly increased creatine phosphokinase in the plasma.	false
+6ec4710ae6e405f12ce2500710015a0b89c29cec	@PHENOTYPICFEATURE$ and @DISEASE$ glycaemia in Breast Cancer Patients is related to disease stage.	false
+2cd6b35522c9c60e9bcdd7f55b41e276f543b6c0	Hemophagocytic lymphohistiocytosis is character-ized by @PHENOTYPICFEATURE$, hepatosplenomegaly, cytopenia, @DISEASE$-triglyceridemia, hypofibrinogenemia, and hemophago-cytosis.	false
+e23b143ab2b7c7b9240d17a5eb47110a01c96d75	The unvaccinated sheep developed severe disease 6-12 weeks after exposure characterised by marked anaemia, @PHENOTYPICFEATURE$ and @DISEASE$-gamma globulinaemia coinciding with the passage of blood-stained faeces and progressive inappetence.	false
+0e4d54bf1547542b9d025d8ae14c6ad8a8c3a124	Postprandial @PHENOTYPICFEATURE$ with endogenous @DISEASE$-insulinaemia is relatively common after gastric bypass (GB) surgery.	false
+a3773b48df04f7b5e8b2208d6d54f5afc440d38a	On admission, he had hypertension, marked @PHENOTYPICFEATURE$, @DISEASE$-glycaemia, acidosis, elevated creatinine and elevated creatine phosphokinase of muscle origin.	false
+5ea1abf717db935cf13b6199beb0efb26490425c	The prevalence of the metabolic syndrome (MetS), a cluster of central obesity, @DISEASE$/dyslipiemia, @PHENOTYPICFEATURE$, and hypertension is constantly increasing worldwide.	false
+39e69e2e28bb65aa1891b5deb0194b4ae3fc7634	@DISEASE$ caused by a de novo @PHENOTYPICFEATURE$ in the sodium channel gene SCN4A.	false
+ed63fdbef9e1ddee986cc9c3fda113f8d754c73f	The most important humoral immunodeficiency syndromes are the transitory @PHENOTYPICFEATURE$ of infancy, the pathological hypogammaglobulinemia with delayed maturation of immunoglobulin-synthesis, the infantile X-linked agammaglobulinemia (Morbus Bruton) and the X-linked immunoglobulin deficiency syndrome with @DISEASE$-IgM.	false
+e18c89ba88f4b13c03b764b7c5a67e0a97dee6d5	Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, @DISEASE$, hearing loss, and @PHENOTYPICFEATURE$.	false
+58cdb36477af66b09a2eb341ff4eaa27d1774e4b	Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder associated with external-, middle-, and inner-@DISEASE$, branchial cleft sinuses, cervical fistulas, mixed hearing loss, and @PHENOTYPICFEATURE$.	false
+dc92bba7449f3573bf4de6741d1a10ced1c4eb11	A three-year-old boy with coloboma, heart defects, atresia of nasal choanae, retarded growth, @PHENOTYPICFEATURE$, ear defects and deafness was fitted with a bone-anchored hearing aid for severe conductive hearing loss and congenital @DISEASE$.	false
+5846a649fce1eb7c2e88e1ab7693329b50a442c9	Based on these diagnostic techniques, we have studied the morphological features of the membranous labyrinth in patients with progressive sensorineural hearing loss due to inner @DISEASE$, labyrinthitis, neuritis of VII and VIII cranial nerves, degenerative entities such as otosclerosis and M?ni?re's disease, @PHENOTYPICFEATURE$ of the cerebellopontine angle, of the inner ear and of the middle ear (glomus tumours, acoustic neuromas, meningiomas, epidermoid tumours, arachnoid cysts and malignant neoplasms).	false
+5d02e579fc9fba5f0d8eec2bb0760b1e7cd69062	Based on these diagnostic techniques, we have studied the morphological features of the membranous labyrinth in patients with progressive sensorineural hearing loss due to inner @DISEASE$, labyrinthitis, neuritis of VII and VIII cranial nerves, degenerative entities such as otosclerosis and M?ni?re's disease, neoplasms of the cerebellopontine angle, of the inner ear and of the middle ear (glomus tumours, acoustic neuromas, meningiomas, epidermoid @PHENOTYPICFEATURE$, arachnoid cysts and malignant neoplasms).	false
+82c4bca1a329676842abbb8d3ed801cbe096c566	Mondini dysplasia is a rare congenital inner @DISEASE$ that presents with abnormal cochlear development with accompanied vestibular @PHENOTYPICFEATURE$ and vestibular aqueduct enlargement.	false
+e0d08e09648c1c742c7748c15cea9f0e9df68854	The EYA1 gene is known as the causative gene of BOR (Branchio-oto-renal) syndrome which is a genetic disorder associated with branchial cleft cysts of fistulae, hearing loss, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6d3d2b0080ad015f79a83949c838c7f7fda9b370	We describe a case of @DISEASE$ in a patient with a contralateral anterior clinoid meningioma, which resolved after @PHENOTYPICFEATURE$ resection.	false
+8232f7492ea40f9df3578924a7eaf23932398295	Several clinical conditions such as insulinomas, non-insulinoma pancreatogenous hypoglycemia syndrome, @DISEASE$, postprandial hypoglycemia (reactive hypoglycemia), non-islet cell tumor hypoglycemia, primary adrenal insufficiency, @PHENOTYPICFEATURE$, and critical illness can be associated with spontaneous hypoglycemia.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+42e771719cf1244814a028b1261aed3d383fb938	@DISEASE$, also known as Kassamali anomaly, accounts for 1 percent of all congenital @PHENOTYPICFEATURE$.	false
+cacf266750d7cca9db6a892606620cd81c0d1492	@DISEASE$: a complex @PHENOTYPICFEATURE$.	false
+0b9e66b35ceb508849fa58f2216023af7ed54abd	Lithium is widely used in the treatment of bipolar affective disorders, and teratogenic effects include @PHENOTYPICFEATURE$, notably @DISEASE$.	false
+5be91dfdd2ab88dfe087f9abda89834d38c8923e	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ characterized by an abnormal tricuspid valve.	false
+b89706c879a2b3f5517872a2655431e93b3c5acb	@DISEASE$ is an uncommon congenital @PHENOTYPICFEATURE$ that may be associated with cyanosis and arrhythmias.	false
+65e95182e043bcb86fb5005e8dfefed74d1ad4fa	[@PHENOTYPICFEATURE$ (@DISEASE$)].	false
+02898699bab755c5a35741f00e5a53187ddbcf4a	Tricuspid valve dysplasia, other than @DISEASE$, is a very rare @PHENOTYPICFEATURE$.	false
+6976f01acf12d245af3d25751b4cdcec54cb2b3f	@DISEASE$ is a complex, congenital heart defect that is associated with a variety of @PHENOTYPICFEATURE$.	false
+5ee2449144c7a8aecabd85037320990c8dd0c5ba	@DISEASE$ is a complex, @PHENOTYPICFEATURE$ that is associated with a variety of cardiac abnormalities.	false
+b3f83e595c16836ecba85361d2aeb5859757b3ab	We previously reported that haploinsufficiency of MBD5 is the primary causal factor in @DISEASE$ and that mutations in MBD5 are associated with @PHENOTYPICFEATURE$.	false
+b7f6a90fcdd1604427e1ad78052cc831f9a2e26f	@DISEASE$ is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to @PHENOTYPICFEATURE$, dystonia/dyskinesia, seizures, and severe cognitive impairment.	false
+3d0c11a404a26f28d1a050dd2cf3ee8101e4b0e2	We present two clinically diagnosed cases of pontocerebellar hypoplasia with @PHENOTYPICFEATURE$ and dyskinesia (@DISEASE$) from two different Portuguese families.	false
+fb22d7f6cb38fd8f3a634b1996f0304386f0d156	The syndrome of autosomal recessive pontocerebellar hypoplasia, @PHENOTYPICFEATURE$, and extrapyramidal dyskinesia (@DISEASE$): compiled data from 10 pedigrees.	false
+16069fc33dbe9147cb4e4eef90a1a8483d2c75f3	We describe two sisters affected by @DISEASE$ associated with @PHENOTYPICFEATURE$, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures.	false
+f2527fbdc41e0d323a29af4096d2562562127a15	The syndrome of autosomal recessive pontocerebellar hypoplasia, @PHENOTYPICFEATURE$, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated @DISEASE$ (PCH-2).	false
+f9590441d452ecb5c10069137cb0098d3e68556f	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and @PHENOTYPICFEATURE$).	false
+0f8e1c461306dfa5e72c797de14f0cd426231054	Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) @DISEASE$ or Usher syndrome, type 1D (characterized by hearing impairment, @PHENOTYPICFEATURE$, and visual impairment).	false
+3c204271e8df642179ca150e0407c4c2bc72ff6a	Recent studies have shown that mutations in PTPRQ, a gene encoding a receptor-like inositol lipid phosphatase, cause recessive, @DISEASE$ with associated @PHENOTYPICFEATURE$.	false
+6dc9068f26db0a7262ed1e14aa9db4857d3d46fb	Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic @PHENOTYPICFEATURE$ and one with @DISEASE$.	false
+17cf2ed478e8c9608930e65bd92c49a48e2b8501	Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthetase, have been so far associated with three different phenotypes: the recessive form of Charcot-Mary-Tooth polyneuropathy, the autosomal recessive @DISEASE$ and the last recently described condition related to congenital @PHENOTYPICFEATURE$ and progressive microcephaly.	false
+5e2e7673f5112012c3720d759032b06cb9c3ace8	Pendred syndrome is an autosomal recessive inherited disorder characterized by a combination of @PHENOTYPICFEATURE$ and euthyroid goiter; its clinical manifestation in children is hardly distinguishable from @DISEASE$.	false
+238e74ca35a7b3a2e78d57b859a4981c5c337b10	A novel mutation in the Espin gene causes autosomal recessive @DISEASE$ but no apparent @PHENOTYPICFEATURE$ in a Moroccan family.	false
+aed8e83d7ab44faeaae6482c3e87ee9333360391	We present serial clinical, radiological and neurophysiological findings of a patient with early @DISEASE$, presenting at the third day of life with hypotonia, @PHENOTYPICFEATURE$ and neonatal seizures.	false
+4d4d2ce0212bf6a7a2a56db0d162910393ae0e42	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, @PHENOTYPICFEATURE$ such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia.	false
+9c8f16ac465758a5411fa3da94066f0a6ecacc00	A 26-year-old woman with upper limb @DISEASE$ as a result of thalidemide embryopathy developed @PHENOTYPICFEATURE$ that required dialysis during pregnancy.	false
+ff08cddf482db4bbb3aee6961b6f5d39c136e99e	She presented with spontaneous bleeding and a platelet count of 4 000/microl caused by @DISEASE$ and developed acute @PHENOTYPICFEATURE$ and respiratory insufficiency.	false
+bcebc73bafcca42a09b1b95abd5b0231811ec06a	pylori) is a highly prevalent, serious and chronic infection that has been associated causally with a diverse spectrum of extragastric disorders including iron deficiency anemia, chronic @DISEASE$, @PHENOTYPICFEATURE$, and diabetes mellitus.	false
+b0e694962ae3cddafbe86d167ec5c5edc3409518	A 9-year-old girl presented with @DISEASE$ and features of hypothyroidism in the form of goiter and @PHENOTYPICFEATURE$.	false
+2329143e9b42bc008cbd34e7dec54cb997691b48	There is a suggestion that H. pylori causes iron deficiency anaemia, @PHENOTYPICFEATURE$ and @DISEASE$, but the evidence is not sufficiently strong to justify screening.	false
+28746f79c54b1e6806ef81f09ebde800eb80ec77	Extragastric manifestations of H. pylori infection most probably include acne rosacea and chronic urticaria, while the importance of H. pylori infection for pathogenesis of @PHENOTYPICFEATURE$ in children, iron deficiency anemia, coronary heart disease, stroke and @DISEASE$ remains vague.	false
+a01e7d6bd38510e4b5e18a43506f194c1bbce69a	We report a case of a 35 year-old woman with @DISEASE$ (ITP) who, under treatment with immunosuppressive drugs, developed bilateral @PHENOTYPICFEATURE$.	false
+cbe69bc0afa4492faf4543a2aab5ea9daff55696	A case of an IgA deficient child who developed several @PHENOTYPICFEATURE$ namely, celiac disease, pernicious anemia, autoimmune thyroiditis and @DISEASE$ is reported; the possible connections and etiology of these phenomena is briefly discussed.	false
+e144ff18db3012232d8d7d557f46b818aa19d78e	Although it is not necessary to perform CD test in every case of ITP, the presence of differential diagnosis of CD is important to prevent unnecessary treatment, especially in @DISEASE$ patients with @PHENOTYPICFEATURE$ or malabsorption findings.	false
+acd2d803711c65c184ed2545fa261aeb4798a904	The incidence of recurrent spontaneous @PHENOTYPICFEATURE$, @DISEASE$ and positive direct antiglobulin test, anti-nuclear and anti-DNA antibodies and VDRL was significantly higher in patients with lupus anticoagulants and systemic lupus erythematosus compared to patients with lupus anticoagulants but without systemic lupus erythematosus.	false
+6327b50545d5171787b7ea9f1b900dda58ad9b7c	An 83-year-old woman, who had suffered from @DISEASE$ (ITP), was admitted to our hospital because of cardiac @PHENOTYPICFEATURE$ and chest pain.	false
+2ff8bc80a2956ec895b8c3df4587ae74da05a997	Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for @DISEASE$, anophthalmia/@PHENOTYPICFEATURE$, trisomy 13, and trisomy 18.	false
+326eefd88ebf30c055708318c098757bd90865e5	Hyperthermia is particularly damaging to the central nervous system, and if a threshold exposure occurs at the appropriate stages of embryonic development, exencephaly, @DISEASE$, encephalocoele, micrencephaly, @PHENOTYPICFEATURE$, neurogenic talipes, and arthrogryposis can be produced in a high proportion of exposed embryos, the incidence and type of defect depending on the species and strain within species, the stage of development, and the severity of hyperthermic exposure.	false
+1a16e3c8136c6f1beb472f570fe707659daff840	Hyperthermia is particularly damaging to the central nervous system, and if a threshold exposure occurs at the appropriate stages of embryonic development, exencephaly, @DISEASE$, encephalocoele, micrencephaly, microphthalmia, neurogenic @PHENOTYPICFEATURE$, and arthrogryposis can be produced in a high proportion of exposed embryos, the incidence and type of defect depending on the species and strain within species, the stage of development, and the severity of hyperthermic exposure.	false
+ec9599749e47267307ce4a8ec7ff83418f0f95b3	At birth, the 1450-g female infant was noted to have craniofacial defects such as @DISEASE$, cleft lip, severe nasal deformity and asymmetric @PHENOTYPICFEATURE$.	false
+a415758d6c537a8d41ba8c40e84fa46bb5cd82bf	Adriamycin induced the retardation of skeletogenesis and external fetal malformations (@PHENOTYPICFEATURE$, hydrocephaly, @DISEASE$, and others).	false
+7af62f1e74ded386d388ff88b0f279e7f09e97aa	Stratification by type of surveillance system showed that active programs had a higher prevalence of @DISEASE$, @PHENOTYPICFEATURE$/microphthalmia, cleft lip with or without cleft palate, reduction defect of upper limbs, and trisomy 18.	false
+1c50ee47b551f836869166fe8b79b4d9bb9105fb	Stratification by type of surveillance system showed that active programs had a higher prevalence of @DISEASE$, anophthalmia/@PHENOTYPICFEATURE$, cleft lip with or without cleft palate, reduction defect of upper limbs, and trisomy 18.	false
+fbd048c1a1451d156096ed379d15ab129777501a	The clusters of spina bifida, @DISEASE$, encephalocele, omphalocele, congenital diaphragmatic hernia, and @PHENOTYPICFEATURE$ may be influenced by prenatal diagnosis and referral to high complexity hospitals.	false
+4a796f4ae1be7d376f028bde5516e73c56412c76	For example, although anophthalmia/@PHENOTYPICFEATURE$, cleft palate, and limb deficiency were observed in all etiological categories of syndromes, no case with @DISEASE$ was identified among the 1,244 children with different syndromes.	false
+b7c27497d521cc6b7749f81bb2307df0a6cf6b1a	We calculated the sensitivity of birth certificates for reporting defects often discernable at birth (e.g., @DISEASE$, spina bifida, cleft lip, @PHENOTYPICFEATURE$, Down syndrome, and rectal atresia or stenosis).	false
+17768b42b725337a669d83a01dbb8e91dd546969	The frequencies of specific congenital malformations (e.g., @PHENOTYPICFEATURE$, cleft lip and/or palate, omphalocele) in infants with @DISEASE$ were compared with the frequencies of these malformations in the general population of liveborns.	false
+30c0c24823d90cb5854305d64f0657ee3f365af7	Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as @DISEASE$ (44.68%), @PHENOTYPICFEATURE$ (17.02%) and meningomyelocele (10.63%).	false
+7587234806c0bcc0c487ae8472494ee53f2526a2	In the absence of macular or @PHENOTYPICFEATURE$, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis together with sea-blue histiocytes in bone marrow biopsies and deficient beta-galactosidase activity but normal glucosidase, hexosaminidase, and neuraminidase activity on lysosomal enzyme assays constitutes the clinical-pathologic-biochemical profile of @DISEASE$. This is a rare, late infantile onset, progressive gray-matter disease in which beta-galactosidase deficiency is largely localized to the brain, though it can be demonstrated in leukocytes and cultured skin fibroblasts.	false
+ed1071ec3766fe609c736bb8bbc51bfb09c918b8	[@DISEASE$ (@PHENOTYPICFEATURE$) of the para-epiphyseal region (lamina quadrigemina)].	false
+ef64e8bc25c00299092c23dbf7a3a5c495272b9f	Since epidermoid cysts are histologically identical to middle ear cholesteatomas, MRI methods that are useful in the diagnosis of @PHENOTYPICFEATURE$; specifically EPI DWI and a non-EPI diffusion subtype (HASTE DWI) may possibly be applicable to @DISEASE$.	false
+8775dcf14c4d1ad068e990c337411645d1c9a275	Epidermoid cyst (@PHENOTYPICFEATURE$) and cholesterol granuloma of the temporal bone and @DISEASE$ affecting the brain.	false
+495d73555750b99a36d9c2e8ba93ae482bff7857	We obtained DWI in 24 consecutive patients with intracranial cystic lesions, (19 intra-axial: five abscesses, five gliomas, six metastases, two demyelinating lesions, one neurocysticercosis; five extraaxial: two arachnoid cysts, two @DISEASE$, one @PHENOTYPICFEATURE$).	false
+945ca8e1d468a801213b7ef6165dc6aa94112aa8	We found a strongly hyperintense signal, indicating restricted diffusion, in brain abscesses, @DISEASE$ and @PHENOTYPICFEATURE$; all the remaining lesions were hypointense or mildly hyperintense.	false
+0da26a0ccc6a6d8ded1471fdab555ddca476746e	Synonyms for @PHENOTYPICFEATURE$ found in the literature include epidermoid tumor, @DISEASE$ and epithelial inclusion cyst.	false
+efdaf553bbed941e717ef8a20e4f2a2aab5c741a	At onset, high-level inflammatory activity is mainly reported, and patients with @DISEASE$ are also at high risk of developing early physical disabilities and early @PHENOTYPICFEATURE$.	false
+5046e9fbcfc4c6839fddacbea5c21dedbef1cb2f	Peutz-Jeghers syndrome (@DISEASE$) is a rare, autosomal-dominant disease characterized by hamartomatous polyps of the alimentary tract, @PHENOTYPICFEATURE$, and family history of PJS.	false
+0ea5dd2f15678dc21caf22adf668222f83ac35ca	Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disease characterized by hamartomatous polyps of the alimentary tract, @PHENOTYPICFEATURE$, and family history of @DISEASE$.	false
+ce4bc32f4e470d55c8018f6c543e7d3db6034311	@DISEASE$ (PJS) is a rare, autosomal-dominant disease characterized by hamartomatous polyps of the alimentary tract, @PHENOTYPICFEATURE$, and family history of PJS.	false
+9737cce60f79028a6a312ee2a311f7238cad4ea7	A 22-year-old woman presenting with @PHENOTYPICFEATURE$ of the lips and hamartomatous polyps in the stomach, duodenum, jejunum, and ileum, leading to the suspicion of @DISEASE$, was submitted to genetic analysis.	false
+6468a11eb20a3e82bca80ef022475f212c3d4574	It displays association of multiple lipomas, @PHENOTYPICFEATURE$, hemangiomas, @DISEASE$, developmental delay and speckled pigmented maculae on the male genitalia.	false
+805b9b29bddb2a64193d3474a317f42b6e69f1c0	The @DISEASE$ is a rare dominant autosomic, entity characterized by @PHENOTYPICFEATURE$ on the lips, hands and feet; with presence of gastrointestinal polyps producing acute or chronic anemia, intestinal obstruction, and/or abdominal pain.	false
+dc9c0d66e77d37ac4d6d09871c09c9f91b27a65c	Four confirmed mutation carriers showed the typical @PHENOTYPICFEATURE$ of BHC and @DISEASE$.	false
+29bcceaa70a782e128b64e3dafdcbe8a84b1f7a0	X-ray photographs of the patient's body showed dense metaphyseal band sign, which can be found in lead poisoning, treated leukemia, healing rickets, recovery from scurvy, vitamin D hypervitaminosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d8172db0f6e7cf8df739eb1369cfdd32c0d1ddc5	We describe a 4-year-old boy affected by @DISEASE$ (CH) with the unusual association of brachycephaly, large and poorly structured ears, bilateral convergent strabismus, @PHENOTYPICFEATURE$ and slight scoliosis, psychomotor delay, growth retardation and a severe hypoplasia of the right cerebellar hemisphere and vermis.	false
+231f864c960b6d954363d666cb507e06a0c7d4e0	Although serum prolactin concentrations can be mildly elevated in adults with hypothyroidism, @DISEASE$ causes a profound and probably uniform @PHENOTYPICFEATURE$; furthermore, the hormone concentration correlates directly with the simultaneous TSH concentration.	false
+9d16ed43a60c6585172d9cb0fb5170a2e70efa4b	We herein present a male newborn infant with @DISEASE$ whose mother was given a three-week course of methimazole  therapy for her multiple @PHENOTYPICFEATURE$ nodules and subsequently received 20 mCi RAI during the 12th week of her pregnancy.	false
+a7529f2093d21a323e3fe12d1841234c72f19964	We report a case of 13-year-old girl with @PHENOTYPICFEATURE$, microcephalus, blepharophimosis, ptosis, bilateral @DISEASE$ (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation.	false
+382bbacc53d4221af4fac31bf96eae10a7a587ba	Fetal Alcohol Syndrome (FAS), the strongest manifestation of FASD, results in @PHENOTYPICFEATURE$, microcephally and facial dysmorphogenesis including @DISEASE$.	false
+0eda3fb75a1e3c560388806265141e7b017074aa	An adult male with @DISEASE$, severe developmental delay, conductive hearing loss, marked @PHENOTYPICFEATURE$ of prenatal onset, and radiographic skeletal changes is described.	false
+e1772100baa8d0940c465490563ba2fc77fa27dd	This is the case of a 4-year-old male with bilateral @DISEASE$, @PHENOTYPICFEATURE$, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy.	false
+7db2fdaf6e4b9f1a4ca7e86998e0a518dff57ebb	Here we report the detection of a heterozygous de novo nonsense variant in ZEB2 by whole exome sequencing in a fetus with @DISEASE$ in addition to cardiac defects and typical MWS @PHENOTYPICFEATURE$.	false
+646e0aa30f8fa2d67afa7df22ac8efa85d518a4b	Ocular manifestations reported have included congenital cataracts, unilateral @DISEASE$, @PHENOTYPICFEATURE$, and unilateral visual loss with bilateral Brushfield Spots.	false
+87a568f240cd5a9264201651e0950fd077e4fdf9	Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or @DISEASE$, arthrogryposis, severe developmental delay, severe postnatal growth failure and @PHENOTYPICFEATURE$ with prominent nasal root and/or overhanging upper lip.	false
+2e687ea5df0ae6d873b4ef4503af987651516c29	The patient had @DISEASE$, @PHENOTYPICFEATURE$, widely spaced nipples, bifid ureter, syndactyly of the toes, and mental retardation.	false
+4d7c59eb11186d3ddb3a928601692577a51c6235	Ocular findings comprise a range of retinal vascular changes and @PHENOTYPICFEATURE$, but also developmental defects like @DISEASE$ and cataract.	false
+be2401e011eef88f4f045d139f520ad1531f3f19	Here, we report on a 14-year-old boy with @DISEASE$, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, @PHENOTYPICFEATURE$, dental caries, and partial syndactyly of the 2nd and 3rd toes.	false
+bd4535affdf05698da14b97998480cd018759cd5	ANG IV and @DISEASE$ effectively reduced clonic seizures in PTZ-@PHENOTYPICFEATURE$ model, in PTZ-kindled mice as well as during kindling development and a week later by rechallenge with PTZ.	false
+142845c5a232776df714c60f9c30767e677f1f16	The effects of the hexapeptide angiotensin II (3-8) ANG IV, the selective A(1) receptor agonist cyclohexyladenosine (@DISEASE$) and the combination of ANG IV + CHA on pentylenetetrazol (PTZ)-@PHENOTYPICFEATURE$; kindling development and maintenance were studied.	false
+572e74c6274d75061e3253a606d2b472f5be8c1d	Disruption of liver immune tolerance allows for the development of autoimmune hepatitis (@DISEASE$) and @PHENOTYPICFEATURE$ (HCC).	false
+45927d81c4853de6d9be5d7d08d1539a387428fc	[A case of @DISEASE$, interstitial @PHENOTYPICFEATURE$ and liver injury occurred during one month's medication of small dose of alpha-methyldopa].	false
+2b39fdaf296ce32b1906deb1254555f98445bc8c	A girl aged 11 years presented with @DISEASE$ with thrombocytopenia, and subsequently developed severe abdominal pain, @PHENOTYPICFEATURE$, and pollakiuria.	false
+164d8a0ce502a9fd674d5664545178da56daae3c	A 70-year old man with a 14 year history of Sj?gren syndrome, interstitial @PHENOTYPICFEATURE$, and autoimmune hepatitis (@DISEASE$) was admitted to our hospital due to hyponatremia with a one month history of fatigue, thirst, and nausea.	false
+2afaf0d0f029f036eb22595eb7ca0384ff410ec6	Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, @PHENOTYPICFEATURE$, Addisons disease, multiple sclerosis, pernicious anaemia, @DISEASE$, chronic active hepatitis, idiopathic thrombocytopenic purpura.	false
+ffebeb1dfd3b494622089dd702aaeb6bcb07cf57	In association with atypical @PHENOTYPICFEATURE$, a patient developed acute severe @DISEASE$.	false
+d03f5c6567ad3d15edb077776a8795362d1e2cd4	Notable features of the case include @DISEASE$, probable hypoparathyroidism, and @PHENOTYPICFEATURE$ hypogonadism.	false
+2f8bb2334af0ccebe5a0213063f2f49a4efeefb6	Notable features of the case include @DISEASE$, probable hypoparathyroidism, and hypogonadal @PHENOTYPICFEATURE$.	false
+0dfbaf3cdc337c0e01018ced7ba10cce726906cb	@DISEASE$ is a less common but serious complication of CVID, which can result in early cirrhosis, ascites, and even @PHENOTYPICFEATURE$.	false
+9c748e7e7bce9ea62f5b985dc9eb96c71a7e03f7	Two patients died: one with resistant AIN and @DISEASE$ died of pneumocytis @PHENOTYPICFEATURE$ infection, and one with PRCA and ITP died of an acute exacerbation of bronchiectasis.	false
+f019c1287e509325990d816f8716f4c0e3572bcf	@DISEASE$ and Legionella pneumophila @PHENOTYPICFEATURE$.	false
+8b2ab58b22d29f2afefb4a765b375355ba69b8a1	@PHENOTYPICFEATURE$ with a linear disposition along dermatoglyphics: a clue for an early diagnosis of @DISEASE$.	false
+b69c99f790053f182ed90a613b092ece0e1a41e0	Tyrosinemia type II or @DISEASE$ (RHS) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+a350c06e7ebd619df4d3a4cf3b72fdf8f89c42f0	@DISEASE$ or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+877f13fb7f74caa45d86d4a1a86ea0c2675a47b8	@DISEASE$ (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful @PHENOTYPICFEATURE$, and mental retardation.	false
+cacbea91f5d9ab31b584ec1eb4f8ea96c9375611	Richner-Hanhart syndrome (@DISEASE$) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful @PHENOTYPICFEATURE$, and mental retardation.	false
+a273d341bd521aebcd9a6f8e1c7fc3826c192c00	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+503684a769f8ae85d69c148735db37d7e6154589	Tyrosinemia type II (@DISEASE$, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+dcd9f630c96a3a78bf8674c238816165a449558a	Tyrosinemia type II (@DISEASE$, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+65bf15e5ac937fdc6b41aab86c98393fb1d8c755	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, @PHENOTYPICFEATURE$, mental retardation, and elevated blood tyrosine levels.	false
+8411195c9feca41d453666350a2ee09254b3df2d	In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with @DISEASE$, mainly suffering from photophobia, @PHENOTYPICFEATURE$ and slight neurological abnormalities.	false
+c322b6e655dd9b70d6dbce119362e9dcaf9ffc19	@DISEASE$ should be suspected in patients demonstrating dermatologic signs, especially @PHENOTYPICFEATURE$, associated with bilateral pseudodendritic corneal lesions unresponsive to antiviral therapy.	false
+8a5c780bbd06bd9023f794036c14bec7e2811282	Tyrosinemia type II or @DISEASE$ is a rare hereditary disease characterized by the association of pseudoherpetiform corneal ulcerations and @PHENOTYPICFEATURE$.	false
+2365445fd35874581cfd9cee18503fd0ffd16ded	@DISEASE$ or Richner-Hanhart syndrome is a rare hereditary disease characterized by the association of pseudoherpetiform corneal ulcerations and @PHENOTYPICFEATURE$.	false
+f83728c9dc45d605edcdc26dd6187ef6b2d04152	Herpetiform keratitis and @PHENOTYPICFEATURE$: warning signs for @DISEASE$.	false
+cb67863efb63564bc32a656872fa783086c90011	(Report of a case of renal @PHENOTYPICFEATURE$ masquerading as @DISEASE$).	false
+7c2375b51de35f14c998e1bd8b4106b944acc5ce	Both syndromes are inherited in an autosomal recessive fashion, but @DISEASE$ lacks @PHENOTYPICFEATURE$, serious brain malformations, microcephaly, failure to thrive, and severe joint limitation, which are consistently present in MWS.	false
+6207d1af05f315bf68342802124979b7e684285f	Of particular importance, MWS may be associated with @PHENOTYPICFEATURE$ such as Dandy-Walker malformation, while the brothers reported herein with @DISEASE$ both demonstrated distinctive cerebellar enlargement, a new finding for this disorder.	false
+02fb74d87db177b00a729e0e87c70424d9566c85	This article reviews clinical studies examining the efficacies of antiepileptic medications in reducing @PHENOTYPICFEATURE$ frequency in Dravet syndrome, @DISEASE$, and Lennox-Gastaut syndrome.	false
+e2d31c87f2d8ae25d7155f3224693ecd171c9d0e	Three siblings with multiform @PHENOTYPICFEATURE$: An unusual presentation of @DISEASE$.	false
+c8ef51e5b1aa67516a6e8df2e862cfabc5877e72	However, only seven patients (four with Lennox-Gastaut syndrome, two with @DISEASE$, and one with unspecified generalized epilepsy) who became @PHENOTYPICFEATURE$ free remained free of seizures at the time of the final follow-up.	false
+b0c2402f4cdae9ba890df358a0bd6a5adb2b0fa0	However, only seven patients (four with Lennox-Gastaut syndrome, two with @DISEASE$, and one with unspecified generalized epilepsy) who became seizure free remained free of @PHENOTYPICFEATURE$ at the time of the final follow-up.	false
+8d581999f6e05b5c7cf9b26151ad5cbcc48cedeb	We considered that the treatment with continuous intravenous lidocaine is indicated in patients with @DISEASE$ presenting with a cluster of refractory minor @PHENOTYPICFEATURE$.	false
+09356f3715a152c9bc4c76950d0ba9639be355ac	[A successful treatment with a continuous intravenous lidocaine for a cluster of minor @PHENOTYPICFEATURE$ in a patient with @DISEASE$].	false
+6f4c436cc19a355f1bb275d4b7676529943b58c4	Children with myoclonic astatic epilepsy (MAE; @DISEASE$) whose @PHENOTYPICFEATURE$ do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline.	false
+05c082316f4e7753ac203712f7418be8d6046a1e	Three patients with @DISEASE$ and two patients with DS showed a significant improvement in @PHENOTYPICFEATURE$ control, with a reduction in seizure frequency of at least 50%.	false
+70732b4bf52ab855b528dcd7dd30866e6e1909d3	Three patients with @DISEASE$ and two patients with DS showed a significant improvement in seizure control, with a reduction in @PHENOTYPICFEATURE$ frequency of at least 50%.	false
+707b6371e6a71e8c221d83b95a2ecd0999d08e2b	@DISEASE$ is often refractory to antiepileptic drugs, and the ketogenic diet is known for treating medically intractable @PHENOTYPICFEATURE$, although the mechanism of action is largely unknown.	false
+cd559aed16ba6e9e284d9ad37346bf8ad6811360	Severe childhood epilepsies (Dravet syndrome, West syndrome, Lennox-Gastaut syndrome, or @DISEASE$) were diagnosed in 29 (11.7%) of 247 patients, with the vaccination-associated event being the first documented @PHENOTYPICFEATURE$ in 15 (51.7%) of 29 patients.	false
+9440abed160b795dee2c43cf65bf7af199ac70cb	There is overlap in the electroclinical features of many childhood epilepsy syndromes, especially those presenting with multiple @PHENOTYPICFEATURE$ types, such as @DISEASE$ (EMAS) and Lennox-Gastaut syndrome (LGS).	false
+b0bccd4836024fe8ef9f4c01269e858a1cf499a9	There is overlap in the electroclinical features of many childhood epilepsy syndromes, especially those presenting with multiple @PHENOTYPICFEATURE$ types, such as epilepsy with myoclonic-atonic seizures (@DISEASE$) and Lennox-Gastaut syndrome (LGS).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+88a94f2c95c62ee862457bab6985148a55d2d7e4	Our results support the notion of a greater prevalence of PSNS in @DISEASE$ patients as compared to the general population, which, at least in part, may be secondary to large and/or small fibre @PHENOTYPICFEATURE$.	false
+cea4faa0ab3fe845dc0036784bafe9f9422593d9	Idiopathic Parkinson's disease (@DISEASE$) is a chronic @PHENOTYPICFEATURE$ movement disorder characterized by motor and non-motor symptoms that affects patients' quality of life and caregiver burden.	false
+f405e49c283c549488ae0ed71172827c4176d038	Recent studies have shown a relatively higher prevalence of @PHENOTYPICFEATURE$ in idiopathic Parkinson's disease (@DISEASE$).	false
+b4b0b1f4afc2a6aff5fbf4c67021b0f0bfd6ad06	The prevalence rate of @PHENOTYPICFEATURE$ in @DISEASE$ patients was 35%.	false
+b9ad9bd3f6173e02b519c2c25897e161df607354	@PHENOTYPICFEATURE$ (PN) is thought to be coincidental in patients with idiopathic Parkinson disease (@DISEASE$).	false
+a1dffe56b16e4d971241e93eac8c00d132dde6a4	Our study showed a prevalence of @PHENOTYPICFEATURE$ in 35% of Korean @DISEASE$ patients.	false
+e401a2b2ccd54afbf486110e2bcf59e6d297f12c	To investigate (1) whether phosphorylated ?-synuclein deposits in skin nerve fibers might represent a useful biomarker for idiopathic Parkinson disease (IPD), and (2) the underlying pathogenesis of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+fc3817b4bc819fa5a28c0eabceebde8caf36f04d	To investigate (1) whether phosphorylated ?-synuclein deposits in skin nerve fibers might represent a useful biomarker for idiopathic Parkinson disease (@DISEASE$), and (2) the underlying pathogenesis of @PHENOTYPICFEATURE$ associated with IPD.	false
+22a8ac349bba0bb68a6f4c0c956432810038739f	Idiopathic Parkinson's disease (@DISEASE$), a @PHENOTYPICFEATURE$ disorder, is a common cause of disability.	false
+e2f7d802ad323f6619654e7bcf876a44de2dd10f	Clinical manifestation of @PHENOTYPICFEATURE$, at least of RBD-like symptoms including nocturnal vocalization and other dream enactments, may occur in PAF, as in @DISEASE$ and DLB.	false
+d70e8b4ad991d1ccc7d2d09195b94d7350a42dcd	Nonmotor symptoms (NMS) of idiopathic Parkinson's disease (@DISEASE$), specifically fatigue, depression and @PHENOTYPICFEATURE$, are important contributors for worse quality of life and poor patient outcomes.	false
+50efef0b62a194449042a7266f917b9c467245fa	Practically, in third of patients the size of @PHENOTYPICFEATURE$ is less than the @DISEASE$ size, in third--their sizes are equal, in 40% the size of edema exceeds the size of glioblastoma.	false
+7458a02d0b15a2d370ff4cd4c92424a1764b7251	Practically, in third of patients the size of @PHENOTYPICFEATURE$ is less than the glioblastoma size, in third--their sizes are equal, in 40% the size of edema exceeds the size of @DISEASE$.	false
+28e2f6a2bbff3cbe0cc4c0491ff58113ae2fd063	Practically, in third of patients the size of edema is less than the @DISEASE$ size, in third--their sizes are equal, in 40% the size of @PHENOTYPICFEATURE$ exceeds the size of glioblastoma.	false
+0cd3246f4ec97d19aef3d315432de05e102aa706	Practically, in third of patients the size of edema is less than the glioblastoma size, in third--their sizes are equal, in 40% the size of @PHENOTYPICFEATURE$ exceeds the size of @DISEASE$.	false
+b2d2a86157f2babe8d338e585cd4805b7e88f52c	According their data, the size of @DISEASE$ @PHENOTYPICFEATURE$, revealed by MRI, varies widely.	false
+3e2477b947086c83451ea8204af7e1e100f51310	Radiogenomic mapping of @PHENOTYPICFEATURE$/cellular invasion MRI-phenotypes in @DISEASE$.	false
+cadd64800e7e721a323cb9260f8241334f15ee7b	Neovascularization and peritumoral @PHENOTYPICFEATURE$ are hallmarks of @DISEASE$ (GBM).	false
+a97e62c37a6e4b66113e251fe591417d94603e7f	Peritumoral @PHENOTYPICFEATURE$ shown by MRI predicts poor clinical outcome in @DISEASE$.	false
+33b74322408d06095fb0c8219e62c12356aadbfb	Irradiating @DISEASE$ preoperative @PHENOTYPICFEATURE$ (PE) remains controversial.	false
+346d0ffca04cba66e22bd808ef98a1582aef29fe	- A MRI study on peritumoral @PHENOTYPICFEATURE$ in newly diagnosed primary @DISEASE$.	false
+83c13de12311954b59df98f3acb63c0841ff16be	Pre-operative peritumoral @PHENOTYPICFEATURE$ and survival rate in @DISEASE$.	false
+f6d6055d23d4e512908fe5abe2b4ef8a2cf1b614	In the article authors consider reasons, leading to the formation of edema around the @DISEASE$ by analysis of perifocal @PHENOTYPICFEATURE$ size, glioblastoma size and necrosis zone correlation.	false
+5d77aaba6a29a0bbae51c29c92e85abb4086f8c6	In the article authors consider reasons, leading to the formation of @PHENOTYPICFEATURE$ around the @DISEASE$ by analysis of perifocal edema size, glioblastoma size and necrosis zone correlation.	false
+80d56e0a0a2bcc858c304531df2a9e0a58ee6272	In the article authors consider reasons, leading to the formation of @PHENOTYPICFEATURE$ around the glioblastoma by analysis of perifocal edema size, @DISEASE$ size and necrosis zone correlation.	false
+f36d87d38714d8126dbde48b09b9bb193b14ef84	In the article authors consider reasons, leading to the formation of edema around the glioblastoma by analysis of perifocal @PHENOTYPICFEATURE$ size, @DISEASE$ size and necrosis zone correlation.	false
+92076875017061307d28bec4cc864e7163baa837	A gradient of ADC values was found in the peritumoral @PHENOTYPICFEATURE$ of @DISEASE$.	false
+6bdce8357edc67cedb00c3d8d29dbcc98e4ddded	To assess the diagnostic accuracy of white blood cell count (WBC), absolute neutrophil count (ANC), and C-reactive protein (CRP) in detecting severe bacterial infections (SBI) in well-appearing neonates with early onset @PHENOTYPICFEATURE$ without source (@DISEASE$) and in relation to fever duration.	false
+7885a405f27fbf4a3b3198dce2c3a88cdc9eddf2	To map and identify the gene for @DISEASE$ (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to @PHENOTYPICFEATURE$ and requiring corneal transplantation.	false
+0a570ff8de5225a736295d4daf57b6dd2e35af17	Congenital hereditary endothelial dystrophy (@DISEASE$) is a genetic disorder of corneal endothelial cells resulting in corneal clouding and @PHENOTYPICFEATURE$.	false
+f369034c362dbc711d88ab6d8c1656cd6cf5748f	The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized @DISEASE$ is associated with skin photosensitivity and @PHENOTYPICFEATURE$.	false
+23e312db2df3266cdcdc941e084df06ed11370a0	@DISEASE$ is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), @PHENOTYPICFEATURE$ (I), decreased fertility (D) and short stature (S), which accounts for the acronym PIBIDS or IBIDS syndrome, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+5a48238bd17c8de826821ba33329b2daf7d1c833	The presenting symptoms included dry eyes, dry mouth, and arthritis/@PHENOTYPICFEATURE$. Extra-glandular manifestations were glomerulonephritis, vasculitis, @DISEASE$ and peripheral neuropathy.	false
+be7c9e57b6d07d32ce16ecb4330a013ae510ab9a	Search terms included combinations of the following: hydrocarbons, inhalants, encephalopathy, coma, cognitive deficits, inhalant abuse, huffing, sudden sniffing death, toluene, @DISEASE$, metabolic acidosis, @PHENOTYPICFEATURE$, dermatitis, and aspiration pneumonitis.	false
+f69ebe8ccf41ee830b915d5e9562e6bf2b1f983a	In addition, anemia without ring sideroblasts was found in three other patients with mitochondrial disorders, including two children with later onset of PS and one child with failure to thrive, @PHENOTYPICFEATURE$, developmental delay, hypertrophic cardiomyopathy, and @DISEASE$ due to the heterozygous mutations c.610A>G (p.Asn204Asp) and c.674C>T (p.Pro225Leu) in the COX10 gene encoding the cytochrome c oxidase assembly factor.	false
+289a3893a9792f8f0927861c780b7a6b5da49931	Leading entities include tuberculosis (TB), rickets, malnutrition, cerebral palsy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e6f3d17d5267f2bef399acd4da885a7f94d3b13e	@DISEASE$ and @PHENOTYPICFEATURE$ hyperglobulinaemica.	false
+8bb7f4e7cf5042c91c174ba4b9fe4cea93336ecf	A patient was observed with interstitial nephritis which resulted in @DISEASE$ (distal type), tubular proteinuria and defective urinary concentrating ability in the absence of @PHENOTYPICFEATURE$, elevated arterial blood pressure, glomerular proteinuria or abnormal urinary sediment.	false
+5a22554e29eb2ae6d090ff77f9107c2daf9134dd	@PHENOTYPICFEATURE$ and/or neutropenia are thought to be characteristic findings in patients with @DISEASE$.	false
+b0394f709d29bf55dd9b771c6f698fe055ba7d6d	They show that certain elements indicate the diagnosis of Pott's disease : associated visceral tuberculosis, and a radiogram showing in particular a centro-somatic notch, recent primary infection, absence of @PHENOTYPICFEATURE$, minimum signs of medullary compression ; other elements on the other hand, indicate a diagnosis of non-tuberculous spondylodiscitis : a negative cutaneous tuberculin test, a positive haemoculture, humoral signs of melitococcosis or of @DISEASE$, any indication of possible means of entry of infection in the two months before the disease, radiological signs of reconstruction in the first four months of evolution, location of the lesion in the anterior upper part of the vertebra, and to a lesser degree, the acute febrile nature of the clinical picture.	false
+b4657e927a555a050752710f25f8326e4d0a67be	Due to accompanying complications (@PHENOTYPICFEATURE$, hyperglycemia, hyperlipidemia, infertility) patients with HAIR-@DISEASE$ should be monitored and treated.	false
+88ced937ddcfa00f0a903f287a982fbfdf9f69cb	A 28-year-old African-American woman with excessive @PHENOTYPICFEATURE$ (body mass index = 42 kg/m2) and HAIR-@DISEASE$.	false
+0af84890f780196125b5900e50780d60afc208c7	To test the hypothesis that the triad of hyperandrogenism, insulin resistance and acanthosis nigricans (HAIR-@DISEASE$) in the presence of @PHENOTYPICFEATURE$, also known as type C insulin resistance (type C), is caused by mutations at the tyrosine kinase domain of the insulin receptor gene.	false
+1749cc96f2ac0a3a26feacb42a7e1a55081d6939	After E. coli endotoxin infusion, @DISEASE$ animals compared to controls had significantly less of a decrease in mean C5 levels (P < 0.01), but similar (P = NS) increases in circulating @PHENOTYPICFEATURE$ necrosis factor levels, bronchoalveolar lavage neutrophils, and protein, and similar (P = NS) decreases in blood leukocytes and platelets.	false
+6f68e5edcac2d3dc8ffb1f84320eb34b82e161df	@PHENOTYPICFEATURE$ and severe hypokalemia associated with @DISEASE$.	false
+22818e3e61c42dfcdb3f2420ae9843c9ecf02d07	A subconjunctival @PHENOTYPICFEATURE$ in a 29-year-old woman with @DISEASE$ was reported.	false
+1f450ab2565e49f834813617084a1953ee7424ff	Leukemia cells from a patient with @DISEASE$ were administered to form subcutaneous @PHENOTYPICFEATURE$ in nude mice, which were maintained successively, although we failed to establish continuously growing cells from the original leukemia cell culture.	false
+c02be4cc323fc874f2999d806c5f09dd103b2d12	A case of @DISEASE$ with subconjunctival @PHENOTYPICFEATURE$.	false
+f259137f769faf0c73e306595fc8cab06433e9b3	Persistent @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3db85d585585ba9349445807a21d2273f128a2d0	A 72-year-old woman with @DISEASE$ was treated with amphotericin B deoxycholate for suspected pulmonary aspergillosis; the drug was well tolerated but resulted in @PHENOTYPICFEATURE$.	false
+6059fc5312eab05d7146353dbb0e0b49d2c794c4	@DISEASE$ is a neoplastic blood disease that can occur as an extramedullary @PHENOTYPICFEATURE$ called a granulocytic sarcoma.	false
+3c764f01a795aa3726f5e286a303d4c746b2419c	We present a case of @DISEASE$ that was complicated by @PHENOTYPICFEATURE$ and severe hypokalemia and discuss the probable mechanisms.	false
+7cadd5343b46e5ef42c4df43f8b682d744581cb6	Hyperparathyroidism @DISEASE$ frequently in X-linked hypophosphatemia (XLH) and may exacerbate phosphaturia, potentially affecting @PHENOTYPICFEATURE$.	false
+7d511c9ef3798ccfd18e33ddf77de2d54bc3eaec	Hypocalcemia @DISEASE$ during endotoxemia in dogs and is associated with hypovitaminosis D. Hypomagnesemia, @PHENOTYPICFEATURE$, alkalosis, and increased calciuresis are not associated with hypocalcemia in endotoxemic dogs.	false
+cf883116b7d6fdfe864641f1bd581156db35c70a	Mild brain stem symptoms can often be demonstrated during the attack, but major @PHENOTYPICFEATURE$ never @DISEASE$.	false
+91f8d9f0f66be976c30c85a1b128ac267b1aedb2	Besides the precocious decline in serum thymulin found in these animals, a progressive @PHENOTYPICFEATURE$ @DISEASE$, with decreased numbers of CD4+CD8+thymocytes, both defects being largely restored by long-term GH treatment.	false
+45af32530a48ec302ca26cd61d035c2690b4816e	Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity @DISEASE$ in isolation or complicated when other @PHENOTYPICFEATURE$ are present.	false
+481f528f07f00f180457cfb9781819680447f989	Finally, efforts are emphasized to screen all children of families, in which premature heart disease or @PHENOTYPICFEATURE$ @DISEASE$.	false
+6748b22114668272ae90b05b5a68ea78a2ebeba9	Sensorineural hearing loss is the most consistently expressed clinical feature, being present in almost all affected individuals, and the combination of @PHENOTYPICFEATURE$ and hearing impairment @DISEASE$ in well over 90% of those affected, with various renal anomalies being the most heterogeneous feature of the classic triad.	false
+4d4e4e18ed3a6dce82a29eac956a39580ceeb3c5	Key search terms for cardiovascular abnormalities included all synonyms for the following groups: structural cardiac abnormalities, @PHENOTYPICFEATURE$, blood pressure abnormalities, carotid sinus hypersensitivity (CSH), orthostatic hypotension (OH), vasovagal syncope (@DISEASE$), postprandial hypotension (PPH), arterial stiffness, heart failure, and cardiovascular disease.	false
+6de28293b3fc5320cc729702fd5db0ab2954cb55	We investigated the genesis and presentation of previously-reported anxiety in disorders of autonomic overexcitation in relation to interoception, body vigilance and trauma to test our hypothesis that patients with the postural tachycardia syndrome (PoTS), vasovagal syncope (@DISEASE$) and essential @PHENOTYPICFEATURE$ (EH) represent atypical anxiety phenotypes in whom affective symptoms are more related to apprehension and vigilance of physiological (interoceptive) feedback than neurotic or trauma-related factors.	false
+57a010413630011b7e910af6f7485f4a3ac6d70c	Three subtypes of syncope are differentiated: vasovagal syncope (VVS) due to parasympathetic excess (VVS-PE), VVS with @PHENOTYPICFEATURE$ response (VVS-HR), and @DISEASE$ without PE (VVS-PN).	false
+fa82965c73f54b2d117a4730d01e25892313c919	Three subtypes of syncope are differentiated: vasovagal syncope (@DISEASE$) due to parasympathetic excess (VVS-PE), VVS with @PHENOTYPICFEATURE$ response (VVS-HR), and VVS without PE (VVS-PN).	false
+c94fbbb8e90871d29d14fee8c37ec85334aae60d	@PHENOTYPICFEATURE$ and @DISEASE$ occur in several syndromes, but with other findings.	false
+3cdc4fbc9af876146a636775ada4fc07bbbcc8af	lawsuits, @PHENOTYPICFEATURE$ after @DISEASE$ surgery in 12 (17.1%),	false
+41d57b00e714e61f8a6341e5fe11008928628c4e	@PHENOTYPICFEATURE$, arthropathy, coarse face, @DISEASE$ and glaucoma: a newly recognized syndrome.	false
+288de1e594d4c9bf86aa16753d0c0d5f7e1389d2	When it is associated with other @PHENOTYPICFEATURE$ and congenital @DISEASE$, the condition is called oculofaciocardiodental syndrome, which is characterized by congenital cataracts, dental anomalies, many minor facial dysmorphic features, and congenital heart defects.	false
+5745fc1f79337ab47905102dd84b9342079960dc	When it is associated with other @PHENOTYPICFEATURE$ and congenital cataracts, the condition is called oculofaciocardiodental syndrome, which is characterized by congenital @DISEASE$, dental anomalies, many minor facial dysmorphic features, and congenital heart defects.	false
+8938a00f91db98bc6d7d07f82478539e2ab74d02	When it is associated with other dental abnormalities and congenital @DISEASE$, the condition is called oculofaciocardiodental syndrome, which is characterized by congenital cataracts, @PHENOTYPICFEATURE$, many minor facial dysmorphic features, and congenital heart defects.	false
+7f647e59b63e5355efe78c119f45b8ae04efc5d0	When it is associated with other dental abnormalities and congenital cataracts, the condition is called oculofaciocardiodental syndrome, which is characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, many minor facial dysmorphic features, and congenital heart defects.	false
+4c58e707f9afb4122f837c9236d1cc9b969b285f	[A new biotype of lifebuoy @DISEASE$ (cataracta umbilicata) associated with brachymorphia, external ophthalmoplegia and @PHENOTYPICFEATURE$].	false
+093170cd7acec1f30379e133dc286f2e37f9cf17	[A new biotype of lifebuoy cataract (@DISEASE$ umbilicata) associated with brachymorphia, external ophthalmoplegia and @PHENOTYPICFEATURE$].	false
+5e29d75c4ad542c2e3aa9295e19b3ca5ab2a01a1	Both patients showed gait ataxia, spastic paraparesis, polyneuropathy, bilateral premature @DISEASE$, tendon xanthomas, and @PHENOTYPICFEATURE$.	false
+9e18ad17d5bdff21469baa8d2b2ceabd0f7ac842	Both patients showed @PHENOTYPICFEATURE$, spastic paraparesis, polyneuropathy, bilateral premature @DISEASE$, tendon xanthomas, and cognitive deficits.	false
+7c526d7bf5427f4920f6a1e124cbb5fca01d5c84	[@PHENOTYPICFEATURE$ during @DISEASE$ extraction in an elderly patient].	false
+ca00c09de3c729af5131394e3f3f41c50734ad64	We show that a mosaic carrier mother manifested early @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e22952890edb05f8655942c0a7cee656510be582	Ophthalmic features are also prominent and include @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cccac22ad9d3e36216f23a7adced39de0883f373	Congenital X-linked @DISEASE$, @PHENOTYPICFEATURE$ and brachymetacarpalia.	false
+2b61984691b7123176118a8447743d3e010aca09	Sinus pericranii and @PHENOTYPICFEATURE$ epilepsy: novel features of @DISEASE$.	false
+63294ce7612d38f081b0dcc5b2b78b82bc32d65b	@DISEASE$ is a rare congenital anomaly that is characterized by facial, hand, and @PHENOTYPICFEATURE$.	false
+5bedbb952df651e3f56a16e64b2e07e16a6a985d	@DISEASE$; Skew @PHENOTYPICFEATURE$; Metatarsus adductus.	false
+831f9a06565e58db03cbd1adc448a117010f8b80	It is well known for @DISEASE$ to present as myriad of skin rash along with usual joint pain and fever, but probably this is the first case report of Chikungunya fever presenting as severe life threatening thrombotic microangiopathy, thrombotic thrombocytopenic purpura leading to multiple areas of skin necrosis, peripheral digital gangrene, haemolytic anemia, @PHENOTYPICFEATURE$ and severe thrombocytopenia with bleeding.	false
+6d17c27fcc1c43dee524179d2f9a7c6db964df9c	It is well known for Chikungunya fever to present as myriad of skin rash along with usual joint pain and fever, but probably this is the first case report of @DISEASE$ presenting as severe life threatening thrombotic microangiopathy, thrombotic thrombocytopenic purpura leading to multiple areas of skin necrosis, peripheral digital gangrene, haemolytic anemia, @PHENOTYPICFEATURE$ and severe thrombocytopenia with bleeding.	false
+c54732e61394390432918c0bf7699b43e584509c	These abnormalities are similar to those described in Friedreich's @PHENOTYPICFEATURE$ and in @DISEASE$, although in our patients the motor deficit is much more severe than in these diseases.	false
+92182886158859318740f9bd4741415111bc5a7d	have been reported in Charcot-Marie-Tooth disease, @DISEASE$, and in a few sporadic patients with @PHENOTYPICFEATURE$ and minor anomalies, however, no significant clinical similarity was found among these cases and the propositus.	false
+e014eaff0a4cfe71df3a8b2e849e269a0a93f175	Arrhythmic or electrical storm (@DISEASE$) is a clinical condition characterized by 3 or more sustained @PHENOTYPICFEATURE$ episodes leading to appropriate device therapy in a 24-hour period and is associated with very high mortality.	false
+2e647da8b608371347c529655efe59a9f821fdbf	No serious AEs, serious @PHENOTYPICFEATURE$ @DISEASE$, or discontinuations due to AEs over 12 weeks were found.	false
+4861ec6aac14169fd849aeefa07a5b6a5a37834e	In general, it could be concluded that the GAMT mouse model is very useful for biochemical research of @DISEASE$, but shows only a mild @PHENOTYPICFEATURE$.	false
+8d4ace3daa9ee3009182639b64271b9ea8029e71	None of the 4 patients suffering from refractory neuropathic trigeminal pain benefited from the procedure (0% response rate), whereas all 5 patients (100%) affected with refractory @DISEASE$ (TN) due to multiple sclerosis (MS) and undergoing pHyp DBS experienced a significant decrease in pain attacks within the first branch of cranial nerve V. Six (75%) of 8 patients presenting with aggressive behavior and @PHENOTYPICFEATURE$ benefited from pHyp stimulation; 6 patients were part of the authors' series and 2 were reported in the literature.	false
+520eb879dfa0439abe1abc7be5ce7ab3efb8f682	Case 1 (70-year-old man) presented with @DISEASE$ and @PHENOTYPICFEATURE$ caused by subarachnoid and cerebellar hemorrhage.	false
+d85bd565481c5dec97127f6bdde3595b989b3df8	@DISEASE$ associated with @PHENOTYPICFEATURE$ and syncope.	false
+8463d177800b9306ca44fb81bf5c433f3445903f	Two patients, one with rapidly progressive headache and @PHENOTYPICFEATURE$, and another with @DISEASE$ were found to have mixed-intensity cystic lesions of the prepontine region consistent with an epidermoid cyst.	false
+2431872cb828a7a2d6081e75f3efbb87f06f6cfc	@DISEASE$ is a paroxysmal and severely @PHENOTYPICFEATURE$ facial pain.	false
+f8019e16dbeb025629bd1091d153d3986ac3cdf4	Neurologic manifestations include @DISEASE$ with associated deafness, hemifacial pain with associated migraine headaches, @PHENOTYPICFEATURE$, movement disorders, and neuropsychiatric symptoms.	false
+1491e5c505e71c328f39a3a6d4628406a89669c4	The mass was piecemeal totally removed.After surgery the patient recovered both left @DISEASE$ and hypoesthesia; @PHENOTYPICFEATURE$ was significantly relieved too.	false
+bf3fc6a57738451e84149e7f9b3d69bec5e34b74	Syncope and @PHENOTYPICFEATURE$ have not been previously reported in association with @DISEASE$, although they are well described with glossopharyngeal neuralgia.	false
+443e2378b13f9475a20d2c6b687b57149a67823e	According to our classification, temporomesial involvement (25.6%) was significantly (p = 0.001) associated with a higher incidence of @PHENOTYPICFEATURE$, and @DISEASE$ was present in patients with lesions limited to the CPA (p = 0.006).	false
+822aaa25f11472ccc14f4b5aadb85ec459298baf	A review of the existing world literature searching (using PubMed, August 22, 2005) for key words 'multiple sclerosis' and multiple symptoms associated with MS including @DISEASE$, pain (pump and rhizotomy), @PHENOTYPICFEATURE$, intrathecal pump, hydrocephalus and stimulation (brain and spinal).	false
+d5dda4953a4abb470c1fcf53f6b5edd61116dfb8	Clinical signs of @DISEASE$ include dermal lesions, including regional and local @PHENOTYPICFEATURE$, crusts, and ulcers.	false
+30e09b5f4b3d982cdf5324aec5d4c65cb25be8d5	Due to the cardiotoxicity of chemotherapy for @DISEASE$, preexisting @PHENOTYPICFEATURE$ precludes usual therapy.	false
+6d86a8082714529628007f4f4794260435729e71	Risk of @PHENOTYPICFEATURE$ following @DISEASE$.	false
+b998a2438148d7b4f6189dabdb5f0b016c9e555d	The Doppler-derived index of combined systolic and diastolic myocardial performance demonstrates the presence of subtle @PHENOTYPICFEATURE$ in the majority of @DISEASE$ survivors.	false
+8ee77226fcbce0259cf471459d7155728a926ec3	A patient with @DISEASE$ and renal insufficiency became @PHENOTYPICFEATURE$ while being treated with high dose oral furosemide.	false
+68c0d3e754881a1847f9d098999122f1357fd601	Mechanisms underlying the association between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0a7b7ea9f0077ad5d86d6edca84bb5ff938843f0	The aim of the study was to investigate the relationship between @DISEASE$ (HL) and @PHENOTYPICFEATURE$.	false
+4b336c16b218bddaf10e71c5687929b6cb60243b	Risk profile and outcome in @DISEASE$: is @PHENOTYPICFEATURE$ beneficial?	false
+d6ff490a885332855051969dc41b374b7de3fab4	[Heart failure, recurrent @PHENOTYPICFEATURE$ and pleural mesothelioma in a young man who was treated in childhood with radiotherapy for @DISEASE$].	false
+4d794425ec9e8318ad7b3df7c095ebe69a11f73e	We present a case of a 69 year-old woman complaining of palpitations and worsening @PHENOTYPICFEATURE$, after the 2nd cycle of fludarabine due to @DISEASE$.	false
+fd379280d8e1226667681ec0072ee31d9685a694	[Risk of @PHENOTYPICFEATURE$ in patients with @DISEASE$ after radiation and anthracycline chemotherapy].	false
+d9d9d5996bdc9cb573b1cff8604bed0e477d209a	This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4584d6dbf67fdd081f37845b7897f4b5c28957fc	Premature ovarian failure, @PHENOTYPICFEATURE$, and @DISEASE$ in an 18-year-old adolescent girl with 46, X, i(X)(q10).	false
+8842c7b459b9c59eb76044a1f3f991012e22ed9d	We present the case of a woman who suffered of giant cell myocarditis, thymoma, myasthenia gravis, @DISEASE$, giant cell myositis, granulomatous infiltration in the lymph nodes of the hilus of the lung and @PHENOTYPICFEATURE$; multiple association that we have not found in any published medical paper and that suggest the autoimmune origin of this illness.	false
+48b6adcded7c82b0f5ef2f5e6b25e0a67927be9f	Antitumor @DISEASE$ tumorigenesis, but we do not understand how transformed cells initiate those immune responses that are essential for effective @PHENOTYPICFEATURE$ immunosurveillance.	false
+922ecb9c1bfa6cdf9783a044a8b829af71fe4e93	Prebiopsy neo-adjuvant endocrine therapy for breast cancer to prevent post-surgery trauma-induced growth factor and @DISEASE$ mediated @PHENOTYPICFEATURE$ progression.	false
+d66292f14cd23a2a99e0d6fd7c158aa475d159c7	It was shown that oral tolerance induces antigen-specific @DISEASE$ towards @PHENOTYPICFEATURE$-associated-antigens by feeding of HBV or other tumor proteins.	false
+a9cfef7338081ae2c8ce9e856bac8ece7d1d9f7f	It was shown that oral tolerance induces antigen-specific @DISEASE$ towards tumor-associated-antigens by feeding of HBV or other @PHENOTYPICFEATURE$ proteins.	false
+a1ae34811e60e5a163cc45fb64cb3b29e37b6b3a	Comments on Prebiopsy neo-adjuvant endocrine therapy for breast cancer to prevent post-surgery trauma-induced growth factor and @DISEASE$ mediated @PHENOTYPICFEATURE$ progression, Oliver et al., Eur J Cancer, 32A, No. 3, pp.	false
+a889210fbfcba9036938cc0e2b27b11da14d6a6b	The neuronal ceroid lipofuscinoses (NCLs, @DISEASE$) are recessively inherited neurodegenerative disorders that affect humans and other animals, characterised by @PHENOTYPICFEATURE$ and the accumulation of lysosome derived fluorescent storage bodies in neurons and most other cells.	false
+163a76e792e637a2c376c93f9e77e7bd49830b39	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+0d1cf740e6049f570d6a4592bcf534256a028eba	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, @PHENOTYPICFEATURE$ and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+3149dd54450ff29d89f74c47748e0e8047a9d89d	Retinal degeneration and @PHENOTYPICFEATURE$ are the first signs of @DISEASE$ caused by CLN3 mutations, followed by inevitable progression to blindness.	false
+5147fd85bd922fdf4289c6553328618362ce86bd	The neuronal ceroid lipofuscinoses (NCLs, @DISEASE$) are fatal inherited neurodegenerative diseases characterized by gross @PHENOTYPICFEATURE$, blindness, and intracellular accumulation of lysosome-derived storage bodies.	false
+5cb28d4eae924634ef63117dc76ee0641ff91034	Recent studies have linked perturbations in CRMP2 function to neurodegenerative disorders such as Alzheimer's disease, neuropathic @PHENOTYPICFEATURE$, and @DISEASE$, and to psychiatric disorders such as schizophrenia.	false
+34febe1f797351701f80f2ea70874a65db012b66	The neuronal ceroid lipofuscinoses, collectively referred to as @DISEASE$, make up a group of inherited childhood disorders that result in blindness, motor and cognitive regression, @PHENOTYPICFEATURE$, and seizures, ultimately leading to premature death.	false
+ccd63ac5261e24fdb2c5844d96a6447e4d775835	The neuronal ceroid lipofuscinoses (NCLs; @DISEASE$) are a group of fatal inherited neurodegenerative diseases in humans and animals distinguished by a common clinical pathology, characteristic storage body accumulation in cells, and gross @PHENOTYPICFEATURE$.	false
+db13544370ab6ab637a84611eefe42bec92277c3	@DISEASE$ (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe @PHENOTYPICFEATURE$, blindness and seizures, leading to premature death.	false
+ecdd1ed0eaebcaf5c793bc49c3f3cf1a9bfdb194	Phenotypically, patients with @DISEASE$ have @PHENOTYPICFEATURE$ and blindness, cognitive and motor decline, seizures and premature death.	false
+11db7bc68bf1f6b9592a4706666e0abb4eab9ad1	The neuronal ceroid-lipofuscinoses (NCL, @DISEASE$) are fatal inherited neurodegenerative diseases of children characterized by retinal and @PHENOTYPICFEATURE$ and the accumulation of electron-dense storage bodies in cells.	false
+17926c1024c99e0d4bb8d8a3882bce4de78afaf7	Compared with wild-type (WT) or C3- or C5-deficient mice, @DISEASE$ (C1qa(-/-)) mice bearing a syngeneic B16 melanoma exhibit a slower @PHENOTYPICFEATURE$ growth and prolonged survival.	false
+1d72ca219c51277021b05570397b630ef2cd5e32	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; @DISEASE$; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.	false
+03f122a56ec03086b4e3e9cb322c9d8ea7168051	X linked @DISEASE$ (SEDT) is a rare disorder characterised by @PHENOTYPICFEATURE$ and degenerative changes in the spine and hips.	false
+788b7a60ab223bf554d9aa605879532950fdbf4f	Children with @DISEASE$ present with a @PHENOTYPICFEATURE$, platyspondyly, scoliosis, coxa vara, and clubfeet.	false
+190af9bd1f64ffbbfe5f4de4f648c8e97503dc62	A 12-year-old boy of consanginous Turkish descent developed @PHENOTYPICFEATURE$ from @DISEASE$ at the age of 6 and nephrotic syndrome at the age of 10 years.	false
+78dd679e6ce37b45f5e853d461c0ecc40c8c9ccf	The association of a @DISEASE$ and @PHENOTYPICFEATURE$ with focal glomerular sclerosis is reported in two girls.	false
+330e519cfb7648c4441f98f6eb0cc5a3dcc7bb1c	The cases of four patients who had an unusual clinical entity of @PHENOTYPICFEATURE$, referred to as @DISEASE$ of Maroteaux, are described.	false
+8b4171446605c7a9cab114810e0208245048f1d6	The group of @DISEASE$ includes several entities, characterized by short stature, dislocation of large joints, hand and/or @PHENOTYPICFEATURE$.	false
+4f9165a41b283bb3627b861cb797844d6c8c878e	Therefore, we hypothesized that during dietary intervention for @PHENOTYPICFEATURE$, auricular electric stimulation (@DISEASE$), an alternative of VNS, accelerates weight loss by increasing white adipose tissue (WAT) browning and increases energy expenditure.	false
+b5f9cdc27498163b55955f5628a3832fc443a507	Application FAG adequately reflects the state of hemomicrocirculation of the @DISEASE$ in @PHENOTYPICFEATURE$ and PES.	false
+a85ceac92a3c2a5773d485d4f9f29bd9ead93640	to study the state of anterior eye segment (@DISEASE$) hemomicrocirculation by means of application fluorescein angiography (FAG) in patients with @PHENOTYPICFEATURE$ of different maturity solely or in combination with pseudoexfoliation syndrome (PES).	false
+b8a1d88c83c0f0d3f61664dd80eada6998b821bb	We quantified and measured the needs for specific eye care services, including refractive services (RS), annual eye examination services (@DISEASE$), @PHENOTYPICFEATURE$ surgery services (CSS), and low vision services (LVS) in urban adult populations in Asia.	false
+a8876c101378742dda1c9a7a607c61195c430a9f	Toxic signs observable in neonates receiving 2.5 mg/kg/day or more of @DISEASE$ included fine body tremors, uncoordinated movements, hindlimb weakness, circling, loss of righting reflex, paddling, and terminal @PHENOTYPICFEATURE$.	false
+c3baed39ef2a03dab70d6b1121fdadf4388a8332	A consistent and prominent feature, observed across many species, including our neuromuscular blocked (NMB) rat preparation, is that obliterating the baroafferent inputs to the brainstem, e.g., by sinoaortic denervation (@DISEASE$), significantly @PHENOTYPICFEATURE$ variability (BPV).	false
+d1e6a7f826ef815dfade2fc183af4d9aeb8cb286	@PHENOTYPICFEATURE$ variability (BPV), which can be experimentally induced by sinoaortic denervation (@DISEASE$), has emerged as a new marker of the prognosis of cardiovascular and renal outcomes.	false
+0ee537508f2acb8cf724eb1a9839ddda08dc1fad	To examine the role of the sinoaortic and cardiopulmonary baroreceptors and the hepatic nerves in the response of renal nerve activity to the @PHENOTYPICFEATURE$ NaCl infusion, renal nerve activity was examined in conscious rabbits with sinoaortic baroreceptor denervation (@DISEASE$) plus vagotomy and/or section of the anterior and posterior hepatic nerves (SAPH).	false
+6f1fe403b9258a6c91282d8d34f4e32d3807fd56	@PHENOTYPICFEATURE$ variability (BPV) and activation of renin angiotensin system were involved in the mechanisms underlying organ damages in sinoaortic denervation (@DISEASE$) rats.	false
+01e5b1fb686af1098d140ee750b00d763cf892ac	Furthermore, the results are consistent with the hypothesis that @DISEASE$ may underlie the transient attacks of @PHENOTYPICFEATURE$ characterizing EA1.	false
+3fe333fc5ca713c075024e8041565ec7c032524b	Botulinum toxin is effective in reducing hyperhidrosis @PHENOTYPICFEATURE$ and limitations in everyday activities when given in association with paroxetine to subjects with @DISEASE$.	false
+ea54ba3d716d2ec11ab18ea00757403456fa2a3d	Acute subclavian artery dissection (@DISEASE$) is a rare entity which is usually associated with several @PHENOTYPICFEATURE$ and traumatic events.	false
+6f62051c87326749e3b1497472c78799f9ece248	@PHENOTYPICFEATURE$ and hypogeusia in @DISEASE$.	false
+03e5f2ba58dd41a595de0decd0f7368e85fed7f9	The differential diagnosis for unresponsive disease includes poorly controlled asthma, noncompliance with medical regimen, vocal cord dysfunction, rhinosinusitis, gastroesophageal reflux disease or recurrent aspiration, foreign body aspiration, allergic bronchopulmonary aspergillosis, @DISEASE$, cardiac disorders such as congestive heart failure or @PHENOTYPICFEATURE$, or other pulmonary disorders such as chronic obstructive pulmonary disease, alpha-1 antitrypsin deficiency, interstitial lung disease, bronchiectasis, sarcoidosis, hypersensitivity pneumonitis, pulmonary embolism, cystic fibrosis, airway neoplasms, or laryngotracheomalacia.	false
+fcc845615f5ecc2e7e8a10366bc0e912b7f6ca1c	To our knowledge this is the first case of @DISEASE$ primarily presenting with otological pathology: left @PHENOTYPICFEATURE$ and right otitis media.	false
+6f51bd19d8f872d029b0b6ad9dca17a9ed46749e	The differential diagnosis for poorly responsive disease includes severe persistent asthma with associated allergic rhinitis, cardiac  disorders such as left ventricular failure or @PHENOTYPICFEATURE$, vocal cord dysfunction, gastroesophageal reflux disease, recurrent aspiration, chronic obstructive pulmonary disease, emphysema, alpha-1-antitrypsin deficiency, sarcoidosis, hypersensitivity pneumonitis, bronchiectasis, allergic  bronchopulmonary aspergillosis, airway neoplasm, and @DISEASE$.	false
+3ab144f4a6c3c4738e41fe14cf8728e5c6d03347	Moreover, peripheral ulcerative @PHENOTYPICFEATURE$ may be the first sign of systemic necrotizing vasculitis in patients with Wegener's granulomatosis, polyarteritis nodosa, microscopic polyangiitis, or @DISEASE$.	false
+29779e60fb2be99857ba70a31b83d0f129f30417	To present a case of a 60-year-old male with a history of sudden onset @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+c93744469e12d479b8ff95861cfda83dcd618de7	Whereas at least 6 cases of temporal artery involvement with @DISEASE$ have been reported, @PHENOTYPICFEATURE$ has occurred in only 3 patients.	false
+4deeefeecd115dc56327c2e7cf1bc04ba9aa02a8	Showered cortical infarctions and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9bf2033c1cf538f2fd181eb9107339afba17c8fd	A case is presented of the @DISEASE$ with hypereosinophilia and severe cardiac involvement, namely biventricular @PHENOTYPICFEATURE$ and gross encroachment of the right ventricular cavity.	false
+b65afba959dbebbefa9de80eadf3573190f78215	A case of @DISEASE$ with @PHENOTYPICFEATURE$ following central retinal artery occlusion.	false
+e9ae5894b0f0d0ba3307990a1d3a4e6cd9332703	In patients with @DISEASE$ (PD), @PHENOTYPICFEATURE$ might contribute to postural instability and gait disorders.	false
+3af9a33513d5b1425d54db8dcf633280ea99a6ef	[Visual-oculomotor and vestibular-@PHENOTYPICFEATURE$ in @DISEASE$].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+1e0575619a9f822f0f971f29dd148ee2845804dd	@DISEASE$ (PD) has traditionally been associated with @PHENOTYPICFEATURE$.	false
+45f218d288d29ba67932389043d6d048ec3cb259	Orientation-selective @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c77015e248c87218e19593bee45f59acfb65a72f	Neuropsychological correlates of @PHENOTYPICFEATURE$ in @DISEASE$: a CT-scan study.	false
+a390f891a58c639125295f3e529e4a3c2a087e72	[An electro-oculographic study of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+38eaeccf5509bc8db75cec49017a05224db85cd2	@PHENOTYPICFEATURE$ in @DISEASE$: deficits in orientation and motion discrimination.	false
+f1504ecd5de4de56c7fed24224787ad815821c0e	@PHENOTYPICFEATURE$ is frequent in patients with @DISEASE$ (PD).	false
+54fc9f834849eebf643dc0e568820f88b56bcc5b	In the present study, @PHENOTYPICFEATURE$ were investigated in 24 patients with idiopathic @DISEASE$.	false
+e756df47e0be211b8d965d68808f50a1b7dd2787	Other features of @DISEASE$, though, including deafness, @PHENOTYPICFEATURE$, and nephritis, are absent in Sebastian platelet syndrome.	false
+9d61c2bcc623c6454cd5e908f5acea9b03cbfc40	This family represents a variant of @DISEASE$ with @PHENOTYPICFEATURE$ and leukocyte inclusions that, because of the associated macrothrombocytopenia, may be confused with May-Hegglin anomaly.	false
+8c7ee9c7d271baf8f83c58a7d32f654b96bd7ac6	Anterior capsule rupture and subsequent @PHENOTYPICFEATURE$ formation in @DISEASE$.	false
+14c4ac089922dff2c9f062dbdee9385f64beef0d	Twelve children presented association with @DISEASE$ (nephropathy with hematuria, deafness and @PHENOTYPICFEATURE$) while others had hiatus hernia, esophageal peptic ulcer and cholelithiasis.	false
+a56a00461edb9f8325c4510ba8ae8211f104ae71	Fechtner syndrome is an autosomal-dominant variant of @DISEASE$, manifested by nephritis, sensorineural hearing loss, @PHENOTYPICFEATURE$ formation, macrothrombocytopenia, and polymorphonuclear inclusion bodies.	false
+40b3441dfc1e5ff10ff78f327c41c4dac15c285a	Femtosecond laser-assisted @PHENOTYPICFEATURE$ surgery in @DISEASE$ with anterior lenticonus.	false
+ab5d9787c3b541bc91db027a5a5eec87f90f5b11	MYH9-related disorders may be associated with deafness and @PHENOTYPICFEATURE$; hence, @DISEASE$ becomes important in the differential diagnosis.	false
+cce537d0c8a554121bc2ad3594ff291125f51219	Fechtner syndrome is an autosomal-dominant variant of @DISEASE$ manifested by nephritis, sensorineural hearing loss, and @PHENOTYPICFEATURE$ formation in addition to macrothrombocytopenia and polymorphonuclear inclusion bodies.	false
+f91669c1a1d30aebb367f662097f2a4371adfe28	The patients were classified as follows: 1) Probable Alport's--2 patients (1 family); 2) Atypical @DISEASE$ and sensorineural hearing loss--7 patients; 3) Renal and inner @PHENOTYPICFEATURE$--1 patient; 4) Renal, inner ear and multiple anomalies--4 patients.	false
+3b750e4d20fcac4dde7d5cd3f42197a7c9bdcb40	To present 2 cases of anterior lenticonus in patients without @DISEASE$, a surgical technique of @PHENOTYPICFEATURE$ extraction in eyes with anterior lenticonus, and histological results of lenticonus specimens obtained intraoperatively.	false
+5a91818bc795c90849850fb65ab6ca9159c8524f	The incidence of @PHENOTYPICFEATURE$ among young, close relatives of patients with multifocal disease appeared to be excessive, but no clear excess of major anomalies, hemihypertrophy, or minor @DISEASE$ was revealed by a retrospective survey of hospital charts.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+c68b619d5c108857b0318ed45b11a7654b1d1b2c	Then she was transferred to Keio University Hospital and she was diagnosed as having mixed connective tissue disease (@DISEASE$) manifestating myositis, interstitial @PHENOTYPICFEATURE$, pulmonary hypertension and pericarditis.	false
+eb538c70eb14f0cff9c9db73b965b6b0da08e831	The case was diagnosed as mixed connective tissue disease (@DISEASE$) due to presence of swollen fingers, Raynaud's phenomenon, muscle weakness, positive anti-U1RNP antibody, pericarditis and interstitial @PHENOTYPICFEATURE$.	false
+a472609fcb7634e2a3f9421008248fa708e4d88d	We describe a woman who developed @DISEASE$ despite @PHENOTYPICFEATURE$, i.e., a disease associated with permanently very low plasma levels of estrogens.	false
+5a971df27096f6197825c606474b8eed69aea1e7	A 66-year-old woman who was positive for human T-lymphotropic virus type I (HTLV-I) antibody developed mixed connective tissue disease (@DISEASE$) with interstitial @PHENOTYPICFEATURE$, and was successfully treated with corticosteroid.	false
+1b6125a9c912bf53995d8eff0e814e8f4f467145	@PHENOTYPICFEATURE$ are common in @DISEASE$.	false
+4fc9d1859c1b6011ed92092a406451fed103e5d4	@DISEASE$ is a @PHENOTYPICFEATURE$ with both autosomal dominant and autosomal recessive inheritance patterns.	false
+aadbe16b55d60280dfe3e9ce4bb88c9281227f8f	@DISEASE$ is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and @PHENOTYPICFEATURE$ that can be inherited in an autosomal dominant or recessive mode.	false
+5970cb9efb1284d55cba420a4ad9874d77daccd7	The autosomal recessive form of @DISEASE$ (RRS; MIM 268310) is a severe @PHENOTYPICFEATURE$ with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance.	false
+15be079791d8388d930f061d116ad2a16ede8ea5	@DISEASE$, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and @PHENOTYPICFEATURE$.	false
+46e6d0d38a47d124bf730ec8e01960fb7e2ae6a1	Robinow syndrome, also known as @DISEASE$, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and @PHENOTYPICFEATURE$.	false
+bb2c240e42575d8370049f0fdb830b8fdb31eeca	Association of beta-blocker use with mortality among patients with @PHENOTYPICFEATURE$ in the Cardiovascular Health Study (@DISEASE$).	false
+25d1ef56d6ded8a9bd99248844b149492669f03f	Five days after LPS, chronic @PHENOTYPICFEATURE$ scores (@DISEASE$; 10.26???5.17 vs 5.21???3.75; P?<?0.001) and Evans index (0.36???0.06 vs 0.28???0.06; P?<?0.001) were significantly improved with statistical difference.	false
+46fd5a53592a8b7e0a2b98589acaae45f2895728	Their 6-month extended Glasgow Outcome Scale [GOSE] scores were correlated with routine clinical data and the need for CSF shunting [chronic @PHENOTYPICFEATURE$ that required shunting, @DISEASE$].	false
+9f8add24a9568c1a03ef2319777c1e73260fedeb	In addition, the significant association between a history of asthma and an increased risk of developing @PHENOTYPICFEATURE$ was replicated in an independent @DISEASE$ sample.	false
+6a05a3814dc63f08689c8526a1656a325a91e5ce	Carvajal-Huerta syndrome (@DISEASE$) is a rare cardiocutaneous disorder that presents in humans with wooly hair, palmoplantar keratoderma and ventricular @PHENOTYPICFEATURE$.	false
+03dd5de6d43e45c0b64da3aa3951a87e1b2083eb	NT-proBNP was measured at baseline and 2 to 3 years later in 2,975 community-dwelling older adults free of @PHENOTYPICFEATURE$ in the longitudinal @DISEASE$ (Cardiovascular Health Study).	false
+da70cab852253a8df2cb7e1d82d956402599778f	Fibroblast growth factor-23 and death, @PHENOTYPICFEATURE$, and cardiovascular events in community-living individuals: @DISEASE$ (Cardiovascular Health Study).	false
+dac60fa991cc934a51cd168115b5be291597802f	This suggests that diet-induced @PHENOTYPICFEATURE$ or the HFD itself impairs the @DISEASE$ response in the susceptible mice.	false
+74b025dade0cdc2b94ec9b157445b3430edefbe6	@DISEASE$ participants with @PHENOTYPICFEATURE$ (CHF) or treated hypertension.	false
+f3f3ba6354f09e12f7dbd249bd7b07e0e8c319ae	In @DISEASE$, 997 congestive heart failure events occurred during 39 238 person-years; in ARIC, 330 events @PHENOTYPICFEATURE$ events occurred during 64 438 person-years.	false
+46b4a6f2931f054477967e5b51f9cee0bda0af12	In @DISEASE$, 997 @PHENOTYPICFEATURE$ events occurred during 39 238 person-years; in ARIC, 330 events congestive heart failure events occurred during 64 438 person-years.	false
+93dd3861280a75ad3eacc73075f10c697b307f55	There are four neuropsychiatric symptoms clusters established for @DISEASE$ patients: behavior and/or personality disorders, mood disorders, @PHENOTYPICFEATURE$, and psychotic manifestations.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+c85ccdb9e8f71f862fe2a878a47a3d2eb95e5137	There are five neuropsychiatric symptoms clusters established for @DISEASE$ patients: Behavior and/or personality disorders, mood disorders, @PHENOTYPICFEATURE$, psychotic manifestations, and others.	false
+5dc3c8e7753a7006e87e513062ac46df63595c94	To present a case of @DISEASE$ that presented with fatigue, nausea, @PHENOTYPICFEATURE$, and splenomegaly.	false
+e6e9300b8674ae809b5e706b055b47e1fb64a9e8	Since @PHENOTYPICFEATURE$ is a common symptom in @DISEASE$ on presentation, this possibility should be considered in untreated patients.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+538b675b007cdaeca485d9ef39379bb23c196cf5	@DISEASE$ with @PHENOTYPICFEATURE$ and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment.	false
+e574384d23083144d95bdf7fca8e3c0c49584384	Other causes of chorea, for example, Huntington's disease, Sydenham @PHENOTYPICFEATURE$, @DISEASE$, malignancy, systemic lupus erythematosus, haemorrhage/infarction, thyroid dysfunction, drug-induced chorea and antiphospholipid syndrome, were excluded or deemed less likely given her rapid response to achieving near euglycaemia.	false
+c89c1248d6d44232400f0844bcf00f9366c258cb	The interaction of neurologic and @PHENOTYPICFEATURE$ in @DISEASE$ is discussed.	false
+a50efcb3811a2ae087ba9183c8149524c18ae6b3	Unusual causes of LT include metabolic diseases like @DISEASE$, familial amyloid polyneuropathy and hyperoxaluria type I, @PHENOTYPICFEATURE$ and liver disease, and some tumors (epithelioid hemangioendothelioma and neuroendocrine tumors).	false
+8f06e38730347056a860e367a2b432c40c532866	All patients had muscular dystrophy or muscle weakness, @PHENOTYPICFEATURE$, @DISEASE$, and glycerol kinase deficiency.	false
+ac77c424cd98e6a7c730404713b0cd32201926d8	Hyponatremic @PHENOTYPICFEATURE$ and @DISEASE$ in a Neonate with Congenital Diaphragmatic Hernia.	false
+774a2e5d8c2c9e5e4b641eac0c1097c93581acc0	@PHENOTYPICFEATURE$ in a boy with @DISEASE$: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.	false
+98310bffeed90e4056884a21c4b1b538ab8a194d	The clinical manifestations of this disease include hypertriglyceridemia, @DISEASE$ (AHC), Duchenne muscular dystrophy, and @PHENOTYPICFEATURE$.	false
+486d7d6b340dcce6f033bf3dd61b453e40fd192d	[@DISEASE$ associated with myopathy with @PHENOTYPICFEATURE$, psychomotor retardation and hyperlipidemia.	false
+739a4117245216d65c1123f337fd5d6a3f2aee44	Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), @DISEASE$ (NROB1), @PHENOTYPICFEATURE$ and/or Duchenne muscular dystrophy (DMD).	false
+26bae1c38dd7d92334b9af3fb26f4219b7d3cd74	It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, @DISEASE$, Duchenne muscular dystrophy and @PHENOTYPICFEATURE$.	false
+5d55208ed4cf5666908598497fb700275dd0e831	@DISEASE$, progressive muscular dystrophy, and @PHENOTYPICFEATURE$, in association with glycerol kinase deficiency, in male sibs.	false
+f23ebd27d3a180df698ffb7f21997f7d6ab3d048	We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), @DISEASE$ (AHC), and @PHENOTYPICFEATURE$.	false
+4ccfb7d1f591f37dd0cc800515a3a0eaa303e5a0	The genetic study confirmed the existence of a deletion in Xp21 of the genes responsible for DMD, the glycerol kinase deficiency, the @DISEASE$ (gene DAX1) and @PHENOTYPICFEATURE$ (gene IL1RAPL1).	false
+1d39c58e3c0071cd61c0cb677fde638169c0a523	They had clinical features commonly found in @DISEASE$, including disproportionate dwarfism, coarse facial features and @PHENOTYPICFEATURE$.	false
+816ee2686af1740d85b70c9cff6edd98fd0a9456	@DISEASE$ is a related disorder distinguished by its milder course, milder to absent @PHENOTYPICFEATURE$ and survival to adult life.	false
+05cc4a863481a328ee86f69a26337311ee06a15d	Neuraminidase was assayed in the frozen autopsy tissues from three patients with @DISEASE$ and an adult patient with cherry-red spots, myoclonus, @PHENOTYPICFEATURE$ and beta-galactosidase deficiency.	false
+7dc4e7a48e8250648ba66c8b8f9c0d4da756b39a	Co-expression with @DISEASE$ virus VP35 (virus protein 35), which blocked plasmid activation of PKR, substantially increased production of recombinant TPL-2 (@PHENOTYPICFEATURE$ progression locus 2)-ABIN-2 [A20-binding inhibitor of NF-?B (nuclear factor ?B) 2]-NF-?B1 p105 complex.	false
+26edef2fdf0759e8177a33a20aa864626d0a674c	In conjunction with other reported cases, this series suggests that respiratory and @PHENOTYPICFEATURE$ may occur in severe @DISEASE$, especially in patients burdened with high viral loads.	false
+609d4cdc70abf540ec75a676b7849e61584d5814	Mice bearing @DISEASE$ overexpression @PHENOTYPICFEATURE$ exhibited significantly better response to anti-PD1 therapy than those with control tumors.	false
+bac2771dd6002edbac5a933e2c48ef9dc52c2332	Mice bearing @DISEASE$ overexpression tumors exhibited significantly better response to anti-PD1 therapy than those with control @PHENOTYPICFEATURE$.	false
+3c5871de9b67a7d3b95042f1fba53f7a7cca7904	COP1 silencing and STAT3 activation were effectively reverted by blocking of miR-424, suggesting a possible strategy to attack this key node of tumorigenesis in ESE3/@DISEASE$-deficient @PHENOTYPICFEATURE$.	false
+aa69ed9a509ea03ecfe57c089594e8eb9236d47a	Similar data were obtained in @PHENOTYPICFEATURE$ cells in vitro and in drug-treated mice for: HSP70, mitochondrial HSP70, HSP60, HSP56, HSP40, HSP10, and cyclophilin A. Prolonged 'rafenib/sildenafil treatment killed tumor cells and also rapidly decreased the expression of: the drug efflux pumps ABCB1 and ABCG2; and NPC1 and NTCP, receptors for @DISEASE$/Hepatitis A and B viruses, respectively.	false
+000540d33099cdb44567c12778aba8372cea31a0	Similar data were obtained in tumor cells in vitro and in drug-treated mice for: HSP70, mitochondrial HSP70, HSP60, HSP56, HSP40, HSP10, and cyclophilin A. Prolonged 'rafenib/sildenafil treatment killed @PHENOTYPICFEATURE$ cells and also rapidly decreased the expression of: the drug efflux pumps ABCB1 and ABCG2; and NPC1 and NTCP, receptors for @DISEASE$/Hepatitis A and B viruses, respectively.	false
+f5381e9674338ea3a8f9bff198cedd034aa077b9	Furin, the best-characterized member of the mammalian PC family, has essential functions in embryogenesis and homeostasis but is also implicated in various pathologies such as @PHENOTYPICFEATURE$ metastasis, neurodegeneration and various bacterial and viral diseases caused by such pathogens as anthrax and pathogenic @DISEASE$ virus strains.	false
+a8c7d5fe443340a80662f2ca3dc8d7c885759cb3	A chimeric virus combining VSV genes with the gene coding for the @DISEASE$ virus glycoprotein was safe in the brain and also selectively targeted brain tumors but was substantially less effective in destroying brain tumors and prolonging survival of @PHENOTYPICFEATURE$-bearing mice.	false
+d598afd998b0f64aefd87bbaac2ab6f50029753e	26 children (24 males and 2 females) (3.3 %) demonstrated MRI abnormalities (8 leukodystrophic changes, 4 periventricular leukomalacia, 3 brain atrophy, 2 @DISEASE$ vascular changes, 1 pineoblastoma, 1 cerebellar angioma, 1 cerebellar hypoplasia, 3 @PHENOTYPICFEATURE$, 1 neuro-epithelial cyst).	false
+e2ebb3a0e1bec3a12899ee3be8944b48bf155f26	MRI findings of bilateral central macrogyria allowed the diagnosis of a congenital variant of @DISEASE$ in four patients aged between 13 and 32 years, with facio-pharyngo-glosso-masticatory central diplegia, @PHENOTYPICFEATURE$ and seizures.	false
+ef1780b358ad538a15473a7ba3c95d6151f25789	The selected patients were the ones whose improvement had not been achieved through minimum 6 months' medical therapy (eg, Ginkgo biloba extract EGb 761, betahistidine, and trimetazidin) and who were free of systemic or otolaryngologic disease (hypertension, diabetes mellitus, hypo/hypertyroidi, @PHENOTYPICFEATURE$, @DISEASE$, and otosclerosis).	false
+0901ae06d44b5ff3ec1540339cf3b172e50f9b91	@DISEASE$ is characterized by short stature, broad head and other @PHENOTYPICFEATURE$ such as hypoplastic maxilla and distinctive ocular abnormalities.	false
+61f09fec0309944a0450e4e52d8cfcf57858377b	We report ocular findings of a 1-year-old girl who was diagnosed with @DISEASE$ with a positive family history of glaucoma in her cousins and glaucoma with @PHENOTYPICFEATURE$ in her older brother.	false
+3e3f7ce973bbe2001fb9a307faf64a90fe9f9698	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of @DISEASE$, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+f6284140a55a35fa27805cb0e0680ce75c9f28ec	The mother also had hyposmia, increased tendency to caries, and @PHENOTYPICFEATURE$, and the son @DISEASE$, hearing loss, and microtia.	false
+ac149b16208aaa86373136935a0bc4ac8d6fd955	The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+839b4c6f1954300280df6b83dbbcb163a78a83f9	The Hallermann-Streiff syndrome is a rare affection characterized by beaked nose, dyscephaly, @DISEASE$, cataracts, @PHENOTYPICFEATURE$ and proportionate short stature.	false
+fcc61aaf50416064ceac95eed3633415d86a314c	He had a bird-like face, pinched nose, @DISEASE$ of the scalp, @PHENOTYPICFEATURE$ with forward displacement of the temporomandibular joints, a small mouth, and proportional short stature.	false
+0b162124393469189bf23fc926271586fbf6903d	Other more variable features include abnormalities of ectodermal development with @PHENOTYPICFEATURE$, @DISEASE$ or alopecia, hypohidrosis, and nail dystrophy.	false
+a8241831e48bb5e04ed2951c59acd12b08ee17f0	[Erythrodermia ichthyosiformis congenita with @DISEASE$, anhidrosis, @PHENOTYPICFEATURE$-mutism and decreased elimination of various amino acids in the urine].	false
+f760ce88dd0c49c24067b15e1719887966858c37	The syndrome consists of proportionate nanism; @DISEASE$; atrophy and extreme thinness of the skin, particularly over the facial area; an unusual "bird-like" face with @PHENOTYPICFEATURE$; a prominent thin, pointed nose; congenital cataracts; and severe dental abnormalities.	false
+19b072803fc6141ed81616ae84a6471d85f15136	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, cataracts, @PHENOTYPICFEATURE$, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+50b1eecf849fbcd7c58aefcd188c53713da8173a	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, cataracts, beaked nose, @PHENOTYPICFEATURE$, and proportionate short stature.	false
+a2d9c5d28e55505d7bcb6ac87062a2530d9d5022	[A case of congenital @DISEASE$ with hair abnormalities, scar-like changes of the scalp, corneal changes and a @PHENOTYPICFEATURE$].	false
+d2f0136ebb1f2fe1ee4e668ceee93edd80b1e80e	[@DISEASE$-cell @PHENOTYPICFEATURE$].	false
+755598424bf31f845619576261f0faa3e629efa1	[Malignant @DISEASE$ cell @PHENOTYPICFEATURE$].	false
+1f3ea76ec846fed701544f0fa61a0cc8fa0e5d84	Serous LMP @PHENOTYPICFEATURE$ @DISEASE$ harbour complex chromosomal aberrations.	false
+b23b8eff092b7bec8ee4f294fab332ed600591e2	This and other mandibular @PHENOTYPICFEATURE$ associated with the sebaceous @DISEASE$ syndrome may have significant implications for patients.	false
+407cc82bb95582b4b1f23486cae42f0d4ab38bde	[Benign and malignant @DISEASE$ cell @PHENOTYPICFEATURE$].	false
+e5397d20b09d58c218deb840e09658144aed3369	[Misdiagnosis of facial @DISEASE$ @PHENOTYPICFEATURE$].	false
+10448cb5f5ecd0b3832aef499142f98939db40ba	This study demonstrates that the @PHENOTYPICFEATURE$ thickness by itself is an independent predictive factor of the association melanoma-@DISEASE$.	false
+52540729817783f875999c5c0504a0265355f952	@PHENOTYPICFEATURE$ or left ventricular failure @DISEASE$ occurred.	false
+8ce3833a6a3cafb4e919dc8f4c927561c6c74a73	Visceral @PHENOTYPICFEATURE$ @DISEASE$ occurred.	false
+cbc375058a30e4c4b45d342b4f6eb8025089423b	[@DISEASE$ carcinoma with successive @PHENOTYPICFEATURE$ of the face developing after 9 years].	false
+8210f710bb0c05410735788f56943acc8f57709a	Postural and action tremor in @PHENOTYPICFEATURE$ is characteristic of @DISEASE$.	false
+7fccd974e6a476fc8c992448ffc59a0a9a706488	We obtained 51 samples from 51 patients: 13 cystic lymphatic malformations (CLMs), 16 venous malformations (VeMs), 11 arteriovenous malformations (AVMs), 4 combined VMs, 4 PIK3CA-related @PHENOTYPICFEATURE$ spectrum, 1 Parkes-Weber syndrome, 1 @DISEASE$, and 1 multiple lymphangioendotheliomatosis with thrombopenia.	false
+6df7b933b32fd67cde1a3ee9c755df0376d1fb9b	Massive cranial osteolysis, skin changes, @PHENOTYPICFEATURE$ and developmental delay: @DISEASE$ with systemic manifestations?	false
+7498ea4331d83c46532c365f91277171771bb270	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis @PHENOTYPICFEATURE$ syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (@DISEASE$).	false
+0958fe6c27f7012e11255e3b66c9d8a15bbfbb26	The @DISEASE$ (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising @PHENOTYPICFEATURE$ appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia.	false
+54297e458165670ac8c3d3ef73d5b5ab5894e3db	The clinical conditions @DISEASE$ and multiple organ failure, reflex sympathetic dystrophy and sugar @PHENOTYPICFEATURE$ are discussed and the role of oxygen radicals in the aetiology of these diseases are described.	false
+c5636b21a2cab2b698c81e630be581424c1b9d4d	While a 23-year-old man was being evaluated for a two-month history of night sweats, fever, and @PHENOTYPICFEATURE$, he had the typical clinical, radiologic, and laboratory findings of @DISEASE$ (ARDS).	false
+27313ce01ff8c878e646d166711cde632e421ebc	Our case may be the third pancreatic @PHENOTYPICFEATURE$ reported in association with @DISEASE$.	false
+8682de4abba50798308fa4a778ec478f367e9ce4	Pancreatic @PHENOTYPICFEATURE$ in a premature @DISEASE$ female.	false
+bd7e8ea85c9840bda935a65c7d99583ddafff298	Liver biopsy and chromosomal analysis revealed paucity of intrahepatic bile ducts and @DISEASE$. Extrahepatic @PHENOTYPICFEATURE$ was reported in only a few patients with Trisomy 18.	false
+5c10e1f3eda0c703376a3f69d4728bdd60534db0	Liver biopsy and chromosomal analysis revealed paucity of intrahepatic bile ducts and Trisomy 18. Extrahepatic @PHENOTYPICFEATURE$ was reported in only a few patients with @DISEASE$.	false
+78e504061c23f967088ed0200eaf43470c4f4d0c	Maintenance of @DISEASE$ may be protective against the development of type 2 diabetes mellitus in men, regardless of @PHENOTYPICFEATURE$ status.	false
+44bbf7935202fd4277db8f52d9daeb920f8509d7	The purpose of this study was to determine whether metformin, an agent used in the treatment of an @PHENOTYPICFEATURE$-related condition (type II diabetes), might have therapeutic potential for modifying the effects of obesity on airway smooth muscle (@DISEASE$) function.	false
+a628851808841cd71899ef06799bfa3845014000	The purpose of this study was to determine whether metformin, an agent used in the treatment of an obesity-related condition (type II diabetes), might have therapeutic potential for modifying the effects of @PHENOTYPICFEATURE$ on airway smooth muscle (@DISEASE$) function.	false
+3aeff7a300e8e0b3ddf8603354e73fe093dc065a	We reviewed indications for cEEG, demographics, GCS at presentation and during cEEG, modified Graeb score (mGS), presence of @PHENOTYPICFEATURE$, cEEG duration, findings and use of antiseizure medications (@DISEASE$).	false
+23fab15b49c1abf8339c278b4f21fd32bda33bca	In this sample of adults with class II/III @PHENOTYPICFEATURE$, difficulties with ADLs were best associated with measures of @DISEASE$ in relation to total body weight.	false
+bd910f335f7505347387e1d726714d02a53724e8	The association of a decreased @DISEASE$ activity and an @PHENOTYPICFEATURE$ disorder, Beckwith-Wiedemann Syndrome (BWS) with hemihypertrophy has been described at a 23 months old boy in a recent case report (R?thy et al, in this issue).	false
+75c1e7d07f5404ff95991e53ef6429f433bb36d6	The objective of this study was to investigate whether the relationships of appendicular muscle mass (@DISEASE$) with insulin resistance (IR) and metabolic syndrome (MS) vary by gender or @PHENOTYPICFEATURE$.	false
+06f05c19a0ccf6b8c04abe2a84970d666030febe	Furthermore, it appears that the @DISEASE$ impairment and @PHENOTYPICFEATURE$ are linked in a comorbid fashion.	false
+4bbd75881a7ffe97ef0057eca56597867a9164f1	Visceral @PHENOTYPICFEATURE$ was defined as VFA of 100 cm(2) or greater and sarcopenia as @DISEASE$/height(2) more than 1 standard deviation (SD) below the sex-specific mean of a young reference group.	false
+29d09fbd64e8819dab7abf05419d2d0d9db8cb12	The relation between @DISEASE$ dysfunction and known behavioral cognitive disability profiles in children with different cleft types suggests that ASM is implicated in language disabilities of children with @PHENOTYPICFEATURE$.	false
+12bcb164fcb820fc7d85b00b1b2de9192f1b07ef	However, there is a paucity of evidence that @PHENOTYPICFEATURE$-derived factors directly affect human airway smooth muscles (@DISEASE$).	false
+c32250e19888655eadb921cd5f7a41df628ff710	The common @PHENOTYPICFEATURE$ syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and B?rjeson-Forssman-@DISEASE$.	false
+7a52704c25451202ec5a0f134a9b38d28ac51697	In all cases, the clinical manifestations of @DISEASE$, including fever, fatigue, @PHENOTYPICFEATURE$, swollen lymph nodes, and proteinuria, were alleviated or abolished by treatment.	false
+30c23cc1b943c4976f92227d0fe720765e6e44f8	Minimal change disease (@DISEASE$) is a major cause of idiopathic nephrotic syndrome (NS), characterized by intense proteinuria leading to @PHENOTYPICFEATURE$ and intravascular volume depletion.	false
+a0bfa29decc2866db53d130df4f21cffa25ecbd7	Through investigations of the inflammatory responses in @DISEASE$ including myocardial necrosis, fibrosis, and @PHENOTYPICFEATURE$, we have gained further insight into the pathogenesis of MCD.	false
+aa99e1547af57311a58344f7b514857fc7a0762f	Through investigations of the inflammatory responses in MCD including myocardial necrosis, fibrosis, and @PHENOTYPICFEATURE$, we have gained further insight into the pathogenesis of @DISEASE$.	false
+1c5f7dd8a5aa1628e2a8b07bf75f1a9566c23954	Kaposi sarcoma herpesvirus (KSHV)-associated multicentric Castleman disease (@DISEASE$) is a rare, polyclonal lymphoproliferative disorder characterized by flares of inflammatory symptoms, @PHENOTYPICFEATURE$, cytopenias, lymphadenopathy, and splenomegaly.	false
+3003472c61d84390cf4737ed81f72505bb505f87	We discuss the classification of @DISEASE$ according to the embryologic stage of cerebral cortex at which the abnormality occurred and the unique imaging features of various malformations, including @PHENOTYPICFEATURE$, hemimegalencephaly, lissencephaly, focal cortical dysplasia, heterotopias, polymicrogyria, schizencephaly, and neonatal CMV infection.	false
+bdce5a0dfe6d58a2752ae2eb5c25122e815583ac	Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with @PHENOTYPICFEATURE$ and a wide range of @DISEASE$.	false
+7053938e1b2990c938be9ae4ddad0786b0a8f810	In the children with non-@DISEASE$ lesions, plasma colloid osmotic pressure was significantly lower in the hypovolemic types (4.2 +/- 0.4 mmHg) than in those with stable @PHENOTYPICFEATURE$ (13.0 +/- 3.8 mmHg; P < 0.05); in MCD, no such difference existed (respectively, 8.1 +/- 3.0 and 9.9 +/- 2.2 mmHg).	false
+88e817591b55fa54cc9fec5b231c32e193f1db15	In the children with non-MCD lesions, plasma colloid osmotic pressure was significantly lower in the hypovolemic types (4.2 +/- 0.4 mmHg) than in those with stable @PHENOTYPICFEATURE$ (13.0 +/- 3.8 mmHg; P < 0.05); in @DISEASE$, no such difference existed (respectively, 8.1 +/- 3.0 and 9.9 +/- 2.2 mmHg).	false
+c8139079636a734edc99b974833e32d30efd573a	Minimal change disease (@DISEASE$) is one of the most common causes of nephrotic syndrome in children, leading to heavy proteinuria and @PHENOTYPICFEATURE$.	false
+c46f879bf4597e96a90fbd0703e1d6f33f6204e0	In summary, children with nephrotic syndrome may present with pathophysiologic pictures of decreased effective circulating volume or of stable @PHENOTYPICFEATURE$, regardless of whether they have non-MCD or @DISEASE$.	false
+6f5d0757384d92d916fc6da5cad7a7469e97b60e	Minimal change disease (@DISEASE$) is an important cause of nephrotic syndrome and is characterized by massive proteinuria and hypoalbuminemia, resulting in @PHENOTYPICFEATURE$ and hypercholesterolemia.	false
+e6b507a404c0c434f623dc7724d650ebe4f73ff2	This particular compressive, bilateral form of @PHENOTYPICFEATURE$ of the optic nerve has not previously been reported as a cause for such an ischemic syndrome, complicated with @DISEASE$ and cataract.	false
+364f6776a7b09a3205a38161ecad3bcaa3db4426	@DISEASE$ (PCARP) is a @PHENOTYPICFEATURE$ that was genetically mapped to a disease locus (AXPC1) on chromosome 1q32-q31 in an inbred population of Dutch-German ancestry in the continental United States.	false
+6425cf14299e2db7a1ae8d42e9e29927f39f889d	To evaluate the hemodynamic contributions of collateral flow in adult patients with @DISEASE$, @PHENOTYPICFEATURE$ or fluctuation during admission, Suzuki grade, various collateral routes, lesion volume, cerebral blood flow (CBF), and their associations were analyzed.	false
+a3d2a6e246fbf64a0b9ea8f866e45c8f973c27e0	Thirteen (8%) patients had neurological disorders, including epilepsy (n = 3), attention/memory impairment (n = 3), cerebellar ataxia (n = 2), @PHENOTYPICFEATURE$ (n = 2), multiple sclerosis (n = 1), @DISEASE$ (n = 1) and Steinert's disease (n = 1).	false
+52ece09110494dc866dbb8563ac05405b0b86ad5	Postoperative @PHENOTYPICFEATURE$ in pediatric @DISEASE$: watershed shift and hyperperfusion.	false
+b801f7e49417cac59115e958913e90ac7b4d1910	The bleeding from the hypervascular @PHENOTYPICFEATURE$ resulted in the decompensation of balanced @DISEASE$ and thus led to fetal distress.	false
+6db951cd37bf70542917217dfa47ae9b108981ed	A total of 485 thyroid cancer patients were screened for MSI/MMR deficiency, including all major histologic subtypes (195 @PHENOTYPICFEATURE$, 156 follicular thyroid carcinoma [FTC], 50 anaplastic thyroid carcinoma, 65 @DISEASE$, and 17 poorly differentiated thyroid carcinomas) by using a combination of polymerase chain reaction-based detection, immunohistochemistry, and next-generation sequencing.	false
+73fdadcfdfd38b95ca1eb281612936932efba14d	The rates of death from cardiovascular causes, fatal or nonfatal myocardial infarction, fatal or nonfatal stroke, hospitalization for @PHENOTYPICFEATURE$, and hospitalization for acute coronary syndrome, and the incidence of acute pancreatitis, pancreatic cancer, @DISEASE$, and serious adverse events did not differ significantly between the two groups.	false
+532feb2ea7216f3f79b3827f6cee652c305feea4	However, @PHENOTYPICFEATURE$ was associated with decreased risk of @DISEASE$.	false
+e32c4342a4d83dabef8c4f1c14fca8be8a6ffa82	When evaluated by histologic type, @PHENOTYPICFEATURE$ was significantly positively related to papillary, follicular and anaplastic thyroid cancers, whereas it revealed an inverse association with @DISEASE$.	false
+40f041ffa4181a90300641805c64f5741bb25c4d	The adverse effects reviewed herein include pancreatitis, @DISEASE$, @PHENOTYPICFEATURE$, gastrointestinal disturbances, renal impairment, and genitourinary infections.	false
+cfc4fb5259b742767dfa4f7cb593f0736c348ffd	GLP-1 analogues exenatide and liraglutide seem to be connected with @DISEASE$ in rat models and, surprisingly, GLP-1 receptors have been found in @PHENOTYPICFEATURE$, currently the most common neoplasm of the thyroid gland in humans.	false
+7e4013fc64d87be2b4d55ccd49da040db0ab3965	Nevertheless, it is useful to measure plasma CGRP when evaluating the severity of target diseases (e.g., @PHENOTYPICFEATURE$ and sepsis) and when screening or following up patients with neuroendocrine tumors (e.g., @DISEASE$).	false
+a22efbf785dfe745bc1511f719bc2b93cea1a61a	Seventy-seven calcium balance and 47Ca turnover studies were performed in normal volunteers (n = 15) and in patients with osteoporosis (n = 12), primary hyperparathyroidism (n = 8), osteogenesis imperfecta (n = 5), @DISEASE$ (n = 4), thyrotoxicosis (n = 2) and intestinal bypass for @PHENOTYPICFEATURE$ (n = 11).	false
+6450b355a30a4c358d860f613a6af51108d6952e	These conditions include migraine, Korsakoff's psychosis, Tourette's syndrome, withdrawal states, tardive dyskinesia, essential tremor, neuroleptic-induced akathisia, @PHENOTYPICFEATURE$, @DISEASE$, paroxysmal localised hyperhydrosis, diabetic neuropathy and stiff-man syndrome.	false
+220472fb26a5c2b90b6882b71447006d6a53517e	Unlike autosomal dominant polycystic kidney disease (ADPKD), @DISEASE$ (ARPKD) is not generally known to be associated with @PHENOTYPICFEATURE$.	false
+0246af1a58e07bcef2e9e1fba053c6cf8226fe14	Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (@DISEASE$) is not generally known to be associated with @PHENOTYPICFEATURE$.	false
+208f3b6a989212a626915c647921ea4ecc55c505	We have described unilateral @DISEASE$, coloboma of iris, @PHENOTYPICFEATURE$, midline anomalies, oculomotor apraxia and Moebius anomalad as features that were associated with Kallmann syndrome in our group of subjects.	false
+d8a1127ef99f745dd34c36a006fe77e538ca10c8	The relationship of the other abnormalities (ie, @DISEASE$, @PHENOTYPICFEATURE$) to the pulmonary disease also remains obscure.	false
+597f54f47466b5166ba0564edc5113593c577456	We observed a higher prevalence of tricuspid valve insufficiency, @PHENOTYPICFEATURE$, and @DISEASE$ or hypoplasia among infants conceived postwar to GWV men, and a higher prevalence of hypospadias among infants conceived postwar to female GWVs.	false
+4ddfc2ac104b82721142ac009fe6efd7fa6afd91	We report a fetal case with intrauterine growth retardation, genital anomalies, multiple malformations with @PHENOTYPICFEATURE$, @DISEASE$ and facial anomalies detected by prenatal ultrasound.	false
+a30fb59cf3a71781c34fc2ee1be8b893be18b0a7	The coexistence in the same family of pleiomorphic @PHENOTYPICFEATURE$ (cysts, @DISEASE$ or hypoplasia, renal failure) with Mody-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+21d4465347a977dc1e908a76f3c9043ee5c29904	Because of the similarity between the phenotypical changes found in ACI-rats and in patients with familial renal agenesis (Potter's syndrome) and hereditary @DISEASE$ and aplasia (HRA), rat and human chromosomes associated with manifested @PHENOTYPICFEATURE$ were examined by comparative cytogenetics and gene mapping.	false
+28728919f8cbd45d49b95d7496a013a0a9a5bbce	Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases @DISEASE$, @PHENOTYPICFEATURE$, syndactyly, cleft lip/palate, and dental agenesis.	false
+e7f653497e6df0232260139f1e0337b9bf4d102a	[Klippel-Feil syndrome associated with @DISEASE$ and @PHENOTYPICFEATURE$ in an 11-year-old girl].	false
+c7b5ccf89214d8f2afa63871b32266e91baf443a	mutations can cause @DISEASE$ as part of the hypoparathyroidism, renal dysplasia, @PHENOTYPICFEATURE$ (HDR) syndrome that includes mesangioproliferative GN.	false
+7f1282d1c1dea1be766d78552589597437fff16f	We have previously reported a fatal familial juvenile respiratory disease accompanied by occasional unilateral @DISEASE$ and @PHENOTYPICFEATURE$, in Dalmatian dogs.	false
+1b41c0d184dfc413f7ef78d49394f662d22f6647	A novel c.746T>G (p.Phe249Cys) missense mutation of KCNA1 segregated in the family members with @DISEASE$, myokymia, and @PHENOTYPICFEATURE$ susceptibility.	false
+826fb9693cc5787cbc7e319e9c93a3a0761d2b9c	Other features of SCA27 that may distinguish it from other SCAs include the potential for @DISEASE$, accompanying psychiatric symptoms, and @PHENOTYPICFEATURE$.	false
+a05ff0bef807f3656fc1a311703482814bc43b17	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, @DISEASE$, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+87a0824c23b512bce418b1cb5567c2d8f90f2b01	@PHENOTYPICFEATURE$ vertigo is a clinical disorder with a high comorbidity within families much more common in females with overlapping features with @DISEASE$ and migraine.	false
+2855f19f172bf6e139ac180ed2e33e22a02768f8	What do epilepsy, migraine headache, deafness, @DISEASE$, periodic paralysis, @PHENOTYPICFEATURE$, and generalized myotonia have in common?	false
+26451a83ef7cc578ab8fffff8b4f99b9939ff283	Several human Mendelian diseases, including the long-QT syndrome, @PHENOTYPICFEATURE$, and @DISEASE$/myokymia syndrome, have recently been demonstrated to be due to mutations in ion channel genes.	false
+2f5573c0127da0378e60e46b0ae36583ac7ef53e	@DISEASE$ is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of @PHENOTYPICFEATURE$, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.	false
+2d20485801ba68bb3beac96e547b47fdbee8f882	@DISEASE$ (DD) is a rare @PHENOTYPICFEATURE$ primarily characterized by tall vertebral bodies and disproportionate short stature.	false
+54adc5df24ad8eb281fc8d2cf0c6ed452e1c8c6d	Here, we review the biological relevance of Sox2 and Sox9 genes in osteosarcoma, chondrosarcoma and @PHENOTYPICFEATURE$; Sox2, Sox6, and Sox17 genes in Ewing's sarcoma; Sox2, Sox9, and Sox10 genes in synovial sarcoma; Sox2 gene in fibrosarcoma; and Sox21 gene in @DISEASE$.	false
+064286f464974a7a6852533c1fc9161999dd4710	Patterns of disease among World War II prisoners of the Japanese: hunger, @PHENOTYPICFEATURE$, and @DISEASE$ in two camps.	false
+e1fa335cd379487c3db76aa229fea1a4e3739707	Hookworm @PHENOTYPICFEATURE$, a @DISEASE$.	false
+a03b988339d6a8f0049d849d7b84ba5b0f928d71	One patient also has @PHENOTYPICFEATURE$, which has not been reported previously in the @DISEASE$.	false
+7beea56b14a3a75f75ed3ced44e111f3b542d2d6	@DISEASE$ (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and @PHENOTYPICFEATURE$.	false
+27b82a8b6e4383f19f699cb250bb6f2b581dd856	@DISEASE$ is a form of mesomelic dwarfism with multiple rib and @PHENOTYPICFEATURE$.	false
+c697ebe671d6eba670453311fa14cb9508c7a88c	A 74-year-old Japanese man with @DISEASE$ (calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) developed rapidly progressive @PHENOTYPICFEATURE$ without elevation of blood pressure.	false
+ea0650b1269839646420d03abce879e79f9d99d4	We present a rare case of a 70-year-old female with @DISEASE$ who presented to the emergency department with new-onset @PHENOTYPICFEATURE$.	false
+05eea7be249cd0ae471ba9b264e8835466a7a0c1	Only 4.4% had @DISEASE$, 6.7% had limited scleroderma, 17.8% had diffuse scleroderma, 20% had other connective tissue diseases, 20% had other miscellaneous rheumatic conditions, 11.1% had @PHENOTYPICFEATURE$ and 20% other nonrheumatic diseases.	false
+18b69de11fdd2e0d2cb67e66ef8e80aeaa15f375	In this paper, we describe a case of a male patient with anti-U1RNP positive @DISEASE$/@PHENOTYPICFEATURE$ overlap syndrome, who presented acutely with rapidly progressive digital ischemia, which lead to extensive gangrene.	false
+8b321b1d4e50b7793cdb13fcf0a1805ebec8591b	Severe gangrene in a patient with anti-RNP positive @DISEASE$/@PHENOTYPICFEATURE$ overlap syndrome caused by vasculopathy and vasculitis.	false
+ce97523bf7817f0be36d5f68b385e0e446cd7032	Full liquid chromatography-tandem MS analysis revealed 295 proteins, including multiple protein products of genes already known to be responsible for renal and systemic diseases, including autosomal dominant polycystic kidney disease, Gitelman syndrome, Bartter syndrome, autosomal recessive syndrome of @DISEASE$, and familial renal @PHENOTYPICFEATURE$.	false
+a270ecb13f2c703971fb29ffc5bb947f88d00766	RYR1 mutations result in @DISEASE$, @PHENOTYPICFEATURE$ and rhabdomyolysis.	false
+50b478e47864e0830f071d886606bf3f03267308	These are the first two cases reported where patients were diagnosed with both GS and @DISEASE$ or where GS is associated with @PHENOTYPICFEATURE$.	false
+00c343594d48c1f0028189cd48ba967e3730376e	A RYR1 mutation associated with recessive @DISEASE$ and dominant @PHENOTYPICFEATURE$ in Asian families.	false
+80e341fe7e8d78b100455db90885ed4eb2f6af47	The coexistence of central cores associated with fingerprint inclusions is suggestive of mixed @DISEASE$, which is in our case associated with @PHENOTYPICFEATURE$ susceptibility.	false
+9eeebbe01f172c2ec5a1187bdda65474b0fbdf00	@DISEASE$ is related to @PHENOTYPICFEATURE$, and total intravenous anesthesia (TIVA) is a preferable and safe method for children with this disease.	false
+6e05b94cf9af583eccb3da040a8f1bc99284e1d9	We report two exceptional cases of GS where both patients were also diagnosed with @DISEASE$, and one developed @PHENOTYPICFEATURE$.	false
+bce5720a491d622a596ff3deaf92abf76c69af54	 MIM# 180901) are the cause of @DISEASE$ with fiber-type disproportion, @PHENOTYPICFEATURE$ susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies.	false
+50944100b3cae00bb3cb3bc19b202d2ae8490e78	 MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, @PHENOTYPICFEATURE$ susceptibility type 1, central core disease of muscle, multiminicore disease and other @DISEASE$.	false
+a2e5121fea26ad86ce2496e7b6c4b82cfa6b2048	The spectrum of RYR1 mutation associated disease encompasses @DISEASE$, exercise induced rhabdomyolysis, @PHENOTYPICFEATURE$ susceptibility and King-Denborough syndrome.	false
+2c52c5eedc09f18f96ba9c2a7f5ec7e12c270faa	Seventy-two patients were included in this study, 33 with a @DISEASE$ and 39 with @PHENOTYPICFEATURE$ or exertional rhabdomyolysis.	false
+4d81e4be90b3dd9c979339d393b65a929ff0c224	CACNA1S mutations cause hypokalemic periodic paralysis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d575b0887f167f3b6a220420be278477f3584bab	Cardiac sympathetic denervation was found to occur not only in @DISEASE$ but also in other @PHENOTYPICFEATURE$, such as MSA and PSP.	false
+5779660fd8238042c7dc7af74a4eb0c5ce0d2587	One hundred and ten nondemented idiopathic Parkinson's disease (@DISEASE$) patients were consecutively recruited from an outpatient referral @PHENOTYPICFEATURE$ clinic.	false
+5f5fe87435201b0b70343cfc0a1c5f609b938aab	Identification of the molecular basis of @DISEASE$ suggests SLC6A3 as a candidate susceptibility gene for other @PHENOTYPICFEATURE$ associated with parkinsonism and/or dystonic features.	false
+b3e5b35edabc4451185a4b30340605d44f4627d4	Ninety nondemented idiopathic Parkinson's disease (@DISEASE$) patients were consecutively recruited from an outpatient referral @PHENOTYPICFEATURE$ clinic.	false
+fca8dca6a8f29903c2845f5f9b451f07f7daba24	Labeling of neurons and glia was seen in the substantia nigra of control and @DISEASE$ cases and in other @PHENOTYPICFEATURE$ cases.	false
+78ca96c95cdb350e027fd0cd90ce58cd6e293488	It is proposed that a national registry of @DISEASE$ and audit of the delivery of care to patients with @PHENOTYPICFEATURE$ is needed.	false
+ac953f39e49b3b50c60b1639bd2e86a9af946697	Idiopathic Parkinson's disease (@DISEASE$) is a chronic progressive neurodegenerative @PHENOTYPICFEATURE$ characterized by motor and non-motor symptoms that affects patients' quality of life and caregiver burden.	false
+4bc2be1713a47c7c1798ae7aaf350005c0f22120	We studied patients with @DISEASE$ because this @PHENOTYPICFEATURE$ is thought to arise from defects in neuronal iron and energy metabolism, two properties with which aconitase is involved.	false
+0a25ec95b9d962052ba1ec55318a40c2d09520f7	This cross-sectional study was conducted on 114 non-demented idiopathic PD (@DISEASE$) patients consecutively recruited from an outpatient referral @PHENOTYPICFEATURE$ clinic.	false
+a0d892d94c31ef1a42a14a5fb019eee5ccb6f34a	Hypokinetic @PHENOTYPICFEATURE$ are often referred to as parkinsonisms because they display clinical features of idiopathic Parkinson's disease (@DISEASE$).	false
+d16bdc9a0a6fce1003ad7f6284d844aaa8cd4efd	@DISEASE$ (PC) is a rare genodermatosis which may be associated with painful, focal @PHENOTYPICFEATURE$ on the soles.	false
+fffa909c68b74e4c2177fff1fb3f6d719c21e661	We report an infant who had clinical features consistent with @DISEASE$ type II, with unusual features of @PHENOTYPICFEATURE$, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.	false
+82e34614cc25b5bd576cc82852f81397268eed6b	@DISEASE$ is a rare genetic disorder characterized mainly by hypertrophy of the nails and @PHENOTYPICFEATURE$ of the skin and mucosae.	false
+05e1e1ceddeccd250566451c037c5dc644ae04fc	@DISEASE$ (PC) describes a group of genodermatoses manifesting as thickened nails, palmoplantar keratoderma (PPK) and increased risk of @PHENOTYPICFEATURE$.	false
+acad4a7fa2af4e9a4c61543ca0ccbfad32c12aaa	This autosomal dominant condition is not similar to the two reported types of @DISEASE$, because nail lesions, palmoplantar keratosis and @PHENOTYPICFEATURE$, follicular keratosis, and oral leukokeratosis were not observed.	false
+616937a617e5ffa4aff98cdbdac9313b46ab8263	@DISEASE$ (PC) is a rare autosomal dominant genodermatosis characterized @PHENOTYPICFEATURE$ affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions.	false
+e0234257b38b631e0a2591f3fe8675669a63f50b	From the differential diagnostic point of view, the mucosa @PHENOTYPICFEATURE$ syndrome has to be distinguished from the @DISEASE$ and the Howel-Evans' syndrome, which is associated with esophageal carcinoma.	false
+503b9b5ca46c83d851d2bfe45ce16a0454bf59e3	@DISEASE$ (Jadassohn-Lewandowsky Syndrome) is a rare autosomal dominant disorder characterized by nail dystrophy, hyperkeratosis of the palms and soles, leukoplakia of the mucosa of the upper respiratory tract and anus, follicular keratoses especially about the knees and elbows, and palmar and plantar @PHENOTYPICFEATURE$.	false
+b553509ac8ab0c81276ab320de0a6915ca51b4e2	The responses to treatment suggest that the matrix, rather than the bed, is the site from which the @PHENOTYPICFEATURE$ develops in @DISEASE$.	false
+44a9594eb0486af709abcc70c6912c6130b5001e	@DISEASE$ (PC) is a rare autosomal dominant genodermatosis characterized by @PHENOTYPICFEATURE$ affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions.	false
+d90ec291fd440a4e62cb1d53607831fdb77108b0	Presenting symptoms are often non-specific and include @DISEASE$ abdominal pain, recurrent or persistent fever, nausea and vomiting, splenomegaly, @PHENOTYPICFEATURE$ and left lower chest abnormalities.	false
+c0cd0bf1be390f5b1e1789dd5a8836620bd9acf9	The ubiquitin-proteasome system (UPS) is activated during rapid atrophy model (cancer @PHENOTYPICFEATURE$), but few mediators of the @DISEASE$ change during sarcopenia.	false
+d4903e9ccab2ab992b3d655ca34492d5cd634bff	The ubiquitin-proteasome system (@DISEASE$) is activated during rapid atrophy model (cancer @PHENOTYPICFEATURE$), but few mediators of the UPS change during sarcopenia.	false
+696d44783f2490ecbca2d2cef2fd121026c03016	Further sonographic features involve fetal growth restriction, bradycardia, encephalocele, @PHENOTYPICFEATURE$ and @DISEASE$ extremity deformity.	false
+3d559f64f9327ff8fb74fe4f32e2da12029b8efd	Neurological evaluation revealed right-beating nystagmus with left gaze, vertical binocular @PHENOTYPICFEATURE$, right @DISEASE$-extremity dysmetria, truncal ataxia with right axial lateropulsion, and right-facial and lower extremity hypoesthesia.	false
+acf8c7cc05e339e654addde8b901517a077ad1c6	The mother was of slightly @PHENOTYPICFEATURE$ and had mildly short @DISEASE$ extremities.	false
+83a2c9b58488c3b97115768e962550254c688c96	One patient with persistent vestibular dysfunction showed recurrent malfunction of the @DISEASE$ cervical spine and @PHENOTYPICFEATURE$.	false
+3d5c5874c7fc57da2c1ff3e3e425e6a9ad2259df	Group 1 = @DISEASE$ jaw @PHENOTYPICFEATURE$.	false
+c1d50a007056c01bbffaf97124f1156fa4eea42e	A 34-year-old man with X-linked infantile @PHENOTYPICFEATURE$, bronchiectasis, and chronic liver disease had a papular eruption on the trunk and @DISEASE$ extremities.	false
+c7292e5f77aa99f579c29a393516032e4e7c0293	Further indications may be phantom @PHENOTYPICFEATURE$, chronic intractable pain located in the head, face, neck, or @DISEASE$ extremities, spinal lumbar stenosis in patients who are not surgical candidates, and others.	false
+7deaa4e09cfb24bfd843d73799a51838ddcf2844	There are also side effects at other levels, like flu symptoms, @PHENOTYPICFEATURE$, heathache or @DISEASE$ respiratory infections.	false
+9d585c103d8c013a2b98210ba8d31e1e3d528fb3	One patient presented with classic features of @DISEASE$ with @PHENOTYPICFEATURE$ and rickets, while the other had polyuria, growth failure and rickets.	false
+23aadce5ecde1def8e915af8eb41bf86bfe5819c	The first case was a boy of Blackfoot Aboriginal ancestry who presented with @PHENOTYPICFEATURE$, developmental delay and @DISEASE$ and was diagnosed with KSS at 3?years of age.	false
+9af0828c244075fe9f4d6119c50072af68389420	Main clinical findings were hepatomegaly, splenomegaly, cirrhosis, liver failure, tubulopathy, nephromegaly, @DISEASE$, seizures and @PHENOTYPICFEATURE$.	false
+c04ff1c8671d8b8f4c6882d428ca689c5f1168ab	The authors present a rare case of a 6-y-old girl with @DISEASE$ secondary to cystinosis, who at presentation had nephrotic range proteinuria along with rickets and @PHENOTYPICFEATURE$.	false
+fd730a6ce8ecb60823e0886b38c3a9564698b277	Cystinosis is the major cause of inherited @DISEASE$, and should be suspected in young children with a @PHENOTYPICFEATURE$ and with signs of renal proximal tubular damage.	false
+2d25f915d18965f52f3e9b905e63a1f2e57bb293	[Successfully treated @PHENOTYPICFEATURE$ and osteomalacia in adult onset @DISEASE$ *author's transl)].	false
+da4e62a53236e50a52870fd2bc237f1cc89d3abe	Cystinosis is the major cause of inherited @DISEASE$, and should be suspected in young children with @PHENOTYPICFEATURE$ and signs of renal proximal tubular damage.	false
+d5e0df9fd7943771ddb8f8a3714241c6abd0a58a	In addition to the classical findings (myopathy, Debr?-@DISEASE$ and lactic acidosis), our patient presented: Neurosensorial hearing loss, feeding problems, @PHENOTYPICFEATURE$ and hypertrophic myocardiopathy.	false
+23b94af52bd2dea4d0c80b236c6f9f0681a193e9	It produces a variety of clinical manifestations including @PHENOTYPICFEATURE$, the renal @DISEASE$, eye findings, and end-stage renal disease.	false
+ba884324745ed5bddcd90b1f51833d6232a5c62d	A 2-year-old male patient was evaluated for @DISEASE$ with hypertension and @PHENOTYPICFEATURE$.	false
+10261e0d715c170b85f8f163414a4a22e34cd7a8	Mitochondrial DNA (mtDNA) mutation associated with @PHENOTYPICFEATURE$ (SNHL) has previously been described in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and in @DISEASE$.	false
+0778d8d64beb581ba8cf724bbd099fcce12e23a3	The identification of the mtDNA A1555G mutation in a large proportion of Chinese probands with nonsyndromic @PHENOTYPICFEATURE$ (NSHL) provides a molecular explanation for the high prevalence of @DISEASE$ in China.	false
+3ec3bd4bb6a8309299c06de7f28d03b36c50f5a9	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and @PHENOTYPICFEATURE$, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+805ca91486b7db5abdb30ebc30fe94cfb631287a	Postthrombotic syndrome (PTS) is characterized by @PHENOTYPICFEATURE$, @DISEASE$, hyperpigmentation, varicose veins, venous ulceration, and pain with calf compression after deep venous thrombosis (DVT).	false
+a947124224c83745362322efac5fd319f060405b	Post-thrombotic syndrome (PTS) is a long-term complication of deep-vein thrombosis (DVT), manifesting as swelling, pain, @PHENOTYPICFEATURE$, @DISEASE$, and skin induration of the affected limb.	false
+0ad492b5c81edc133848934d5d54d5c2f96bccfc	The three patients display a variable combination of dysmorphic features, hyperpigmented skin lesions and @PHENOTYPICFEATURE$ that enable a '@DISEASE$' to be tentatively delineated.	false
+aed177eaf3861dfca0bc222ed8ed96579efbd413	@DISEASE$ with loose anagen hair (NSLH, including NSLH1, OMIM #607721 and NSLH2, OMIM #617506) is characterized by typical features of NS with additional findings of @PHENOTYPICFEATURE$, loose anagen hair, growth hormone deficiency in some, and a higher incidence of intellectual disability.	false
+cfc8e0c40b66076b367d894d82eaadd9f5c8f81b	To examine the course of appearance of @PHENOTYPICFEATURE$ in patients with @DISEASE$ to identify meaningful cardiac end points for use in future clinical trials.	false
+0219753583908f25eedd5fc7fc1ac237fbb1d0d8	Split hand/split @PHENOTYPICFEATURE$ with @DISEASE$ (Goltz syndrome).	false
+a04c28485545d04b942eaa7f806c03e195fd611a	Split hand/split @PHENOTYPICFEATURE$ with focal dermal hypoplasia (@DISEASE$).	false
+60af245e0b7d3ada183c26bed02a526f92a9f787	We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, @PHENOTYPICFEATURE$, syndactyly, and lobster claw deformity characteristic of @DISEASE$.	false
+889f86215c1a7aca039dedab372c7ecccda8c274	She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, @PHENOTYPICFEATURE$, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of @DISEASE$.	false
+b261941c9e111d22f3d39eb1c53c0176d4aa6e83	@PHENOTYPICFEATURE$ in a mother and daughter with @DISEASE$ (Goltz-Gorlin syndrome).	false
+a99468ab8a32af5e34671eed444078250162d10b	@PHENOTYPICFEATURE$ in a mother and daughter with focal dermal hypoplasia (@DISEASE$).	false
+a1561bcbdd24f25f09a7dab384678fc64d904924	The mean healing indexes were 37.2 days/cm (range 24.2 to 41.5) in those with @DISEASE$ and 64.3 days/cm in those with @PHENOTYPICFEATURE$ (62.5 and 66.0).	false
+dc04678abb8c934ab2b87559e63b83fbdb850d4d	An improved appreciation of the nature and extent of @PHENOTYPICFEATURE$ in @DISEASE$ should assist clinicians when undertaking management of affected individuals.	false
+63797fd96b982669aa315d9d88185bf8a020c36c	They included @DISEASE$, radiation therapy for pilocytic astrocytoma, @PHENOTYPICFEATURE$, von Recklinghausen disease and Down syndrome.	false
+c494f8aa7e3bce7287a800be7e735ba5eb0ed00c	A full-term female baby was diagnosed as having @DISEASE$ with craniosynostosis, hypertelorism, syndactyly, @PHENOTYPICFEATURE$, and cleft plate.	false
+b0fb18fc13f08a95fbd8804c12abba12ea0bb819	Apparent @DISEASE$ with @PHENOTYPICFEATURE$: rare pleiotropic manifestation or new syndrome?	false
+821eb4fe94bfc07af9c639a1e83c09a41d5e40da	Two of the patients had @DISEASE$ (syndromic craniosynostosis with symmetrical syndactyly) and two had @PHENOTYPICFEATURE$.	false
+34c0f60acb7825087a377f68c4de1e8a69a7fd62	To investigate the oral findings, including @PHENOTYPICFEATURE$, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with @DISEASE$.	false
+0968d054e00d5ffe662e48e9ed6d008b05a9b549	We report a patient with a rare form of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7a76c841bd42b96e8f09db49eb4937b4f0e9b202	Our results suggest that osteogenesis at the distraction site may be quicker in patients with @DISEASE$ than in those with @PHENOTYPICFEATURE$.	false
+acad4ffdfe0a0354c07b20a07c3107ed3f9685bd	@DISEASE$ with partial post-axial @PHENOTYPICFEATURE$ and unilateral choanal atresia.	false
+549721dec25591751fb8e4cd0d775c5f2ef3abdb	We studied a patient with partial and secondarily @PHENOTYPICFEATURE$ and a hemiparesis due to a malformation of cortical development (@DISEASE$) in the right hemisphere by using EEG-triggered functional MRI (fMRI), diffusion tensor imaging (DTI), and chemical shift imaging (CSI).	false
+3268911396340162feb1b71270947004af53ac0c	@PHENOTYPICFEATURE$ and seizure disorder in @DISEASE$.	false
+fa1f3a54e8558dafa13509741be68d56360cdbb2	Several forms of pathologies, referred to as Yakut hereditary diseases, have been distinguished on the basis of the results of genetic epidemiological studies of Mendelian diseases in the population of the Republic of Sakha (Yakutia): spinocerebellar @PHENOTYPICFEATURE$ type I, myotonic dystrophy, oculopharyngeal muscular dystrophy, hereditary enzymopenic methemoglobinemia, and @DISEASE$.	false
+33dba38c950903ceda74dcd66d0fcb824f286769	Q. 54) 9-year-old boy with primordial proportionate short stature exhibited characteristic features of the @DISEASE$ (MMM): pseudohydrocephalic dolichocephalia, short neck with protruding muscles, transversal furrow in the lower thorax, @PHENOTYPICFEATURE$ with joint laxity - "falling hands", radiographic manifestations included the tall vertebral bodies and gracile long bones.	false
+2fa9984f6a14a9c734ce2f1ead088233fe2c76fd	@DISEASE$ is a rare, autosomal recessive dwarfing syndrome characterized by prenatal growth restriction, facial dysmorphism and absence of both microcephaly and @PHENOTYPICFEATURE$.	false
+5e15caa073cbe2885c3fcbcdf470e149790635ec	The Pierre Robin triad (PRT) consists of micrognathia-@PHENOTYPICFEATURE$, glossoptosis, and an oval or @DISEASE$.	false
+74cfe9bc64acb4c424e10e0a1387a738e02814aa	In addition to @PHENOTYPICFEATURE$ of all four limbs, the patient has congenital deafness, submucous @DISEASE$, microcephaly, and mental retardation.	false
+6e32abbafaea0138cc5b081b350a9c97e0c14773	In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+af8005fa4e72400da4dbdcdf58a2cc18d761f1a8	We examined 8 members of an Italian family and we observed one member with @PHENOTYPICFEATURE$ and submucous @DISEASE$ and 4 members with only lip pits.	false
+8430ac2a7345a6cf458d6ba0fa60f6da50c7706a	We examined 8 members of an Italian family and we observed one member with lip pits and submucous @DISEASE$ and 4 members with only @PHENOTYPICFEATURE$.	false
+9ee03594d288bdc1a46cf613b2b3230e15a5e9c7	These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, @DISEASE$, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, @PHENOTYPICFEATURE$, and flat nasal bridge.	false
+e2f83d6e78eb33120e6e7d36a35b7628d47bfa52	These findings included @PHENOTYPICFEATURE$, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, @DISEASE$, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, lower limb deformities, and flat nasal bridge.	false
+e96045da977276c6800a1831cee2be504cb34849	The fetus had microcephaly, hypertelorism, @PHENOTYPICFEATURE$, @DISEASE$, a broad flat nose, simian creases, broad hands, tapered fingers, clubfeet, micropenis, a sacral dimple, hypotonia, ventriculomegaly, and a ventricular septal defect.	false
+efbc8edb180c2ab6db9497ac1d5efba851b3a503	The fetus had @PHENOTYPICFEATURE$, hypertelorism, epicanthal folds, @DISEASE$, a broad flat nose, simian creases, broad hands, tapered fingers, clubfeet, micropenis, a sacral dimple, hypotonia, ventriculomegaly, and a ventricular septal defect.	false
+a7bf1b5f2d777026d2667af6bdef97bdefc40aa4	@PHENOTYPICFEATURE$, arthrogryposis and @DISEASE$ in newborn charolais calves.	false
+74df08ba42a7df3da4e13588a3f7abe2b7cbfb9c	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, @PHENOTYPICFEATURE$ and onychodysplasia, syndactyly, and cleft lip/@DISEASE$.	false
+c76012f2472021eb3eb49672ce4d3e6c97c3162d	Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, @PHENOTYPICFEATURE$, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/@DISEASE$.	false
+2e2650e222b45f977f8f60fd1d9282a9d9a4bea2	L-2 anomalies were anencephaly, microcephaly, nonfusion of cranial sutures, @PHENOTYPICFEATURE$, microphthalmia, nonfusion of mandibles, @DISEASE$, imperforate cloaca, sydactyly and polydactyly.	false
+0f3d16541f1391a856a93260c7ff63bc19026446	L-2 anomalies were anencephaly, @PHENOTYPICFEATURE$, nonfusion of cranial sutures, macrocephaly, microphthalmia, nonfusion of mandibles, @DISEASE$, imperforate cloaca, sydactyly and polydactyly.	false
+8b068faf649cbb59272ec7f1b1dd52d60e2b52a2	It is characterized by classical triad of hypotrichosis, @PHENOTYPICFEATURE$/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @DISEASE$.	false
+776427a539332d5b83bc2a6e976b956718ca3574	It is characterized by classical triad of hypotrichosis, anhidrosis/@PHENOTYPICFEATURE$, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and @DISEASE$.	false
+c8ae7720ebbfb4e0125d067a7c3fbe379c3df499	We observed additional findings, such as submucous @DISEASE$ with @PHENOTYPICFEATURE$ and trichorrhexis nodosa.	false
+a440f46d3dc78f980dcc4c9e77e95e1b4b779594	Rieger syndrome is an autosomal dominant condition characterized by a variable combination of @DISEASE$, @PHENOTYPICFEATURE$, and umbilical hernia.	false
+faee6c07d9079dc9639b4d1508f665b4fb634ccf	To discuss the current knowledge regarding complicated hemangiomas (cervicofacial, periorbital, lumbosacral, and parotid), including the associated syndromes of @DISEASE$ and PHACES (posterior fossa malformations, most commonly of the Dandy-Walker variant; hemangiomas [especially large, plaquelike, facial lesions]; arterial anomalies; @PHENOTYPICFEATURE$ and coarctation of the aorta; eye abnormalities; and sternal cleft and/or supraumbilical raphe).	false
+b4212b289f1450a146ceac2381f4660195f685ae	One fetus with @DISEASE$ developed high-output @PHENOTYPICFEATURE$ with hydrops in addition to Kasabach-Merritt sequence (15 platelets/nL), and died following premature delivery.	false
+e527303dcce95942a8f179d6f37c07c6c4d3e0b2	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and retinitis pigmentosa; Leigh's syndrome; and @DISEASE$.	false
+1aab138e0b31378a63af9296e9694b49cee8eb1b	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa; Leigh's syndrome; and @DISEASE$.	false
+4034c8d60b91bddd046ee40905657de4f7af8977	Early @PHENOTYPICFEATURE$ epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with @DISEASE$ caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).	false
+a23508ad2cecca64e3f8b838d4da8f85ec6e662b	The purpose of this study was to examine the contribution of cognitive functioning to arithmetic problem solving and to explore the cognitive profiles of children with attention deficit and/or @PHENOTYPICFEATURE$ disorder (ADHD) and with mathematical learning disabilities (@DISEASE$).	false
+7581cf841ed817b4b1b715439cce4e29cd470789	Comparison groups included 13 children with @PHENOTYPICFEATURE$, 14 children with AS, 15 children with moderate learning difficulties (@DISEASE$), and 14 normally developing children.	false
+1988dbb20e7d71fd271516fe211446694752fdc4	Children with @PHENOTYPICFEATURE$ performed more accurately than children with @DISEASE$ in the buildings task.	false
+41b8f5166b30bc1035d19b7a0530965d674a6c5c	Long-term correction of biochemical and @PHENOTYPICFEATURE$ in @DISEASE$ mice model by neonatal systemic injection of an AAV serotype 9 vector.	false
+39542636e5812fec4f1227a98d5937daf3c4f335	Most experience with allogeneic BMT was gained in patients with mucopolysaccharidosis type I, @DISEASE$ and adrenoleukodystrophy. Allogeneic BMT reduces the amount of storage material in internal organs: @PHENOTYPICFEATURE$ and neurological symptoms are at best stabilized.	false
+8fe8ae12fde7f0e8832d742badeba82d46dd1108	Eight patients had @DISEASE$ with a predominant spastic @PHENOTYPICFEATURE$ (sMLD) and two were mainly dyskinetic.	false
+7bcc8c276b2a1c7796a252ced40f06a6a33215dd	We found that eye gaze was better than verbal performance at differentiating children with @PHENOTYPICFEATURE$ from children with @DISEASE$.	false
+2d3588c5c63a6c045cee6dd3c367f6135fa8949d	While children with @PHENOTYPICFEATURE$ were impaired relative to the normal group, they were not impaired relative to the children with @DISEASE$.	false
+e2efb365fa3d7c943935f071504141d1b03c560c	Twenty-eight children with @PHENOTYPICFEATURE$ and 33 @DISEASE$ children were given two tasks tapping social understanding and a control task tapping probability understanding.	false
+9ea168ec11f99c2bf72ed455f81265e5f1c9289d	This study investigated imagination via drawing tasks, in 15 children with @PHENOTYPICFEATURE$ and 15 children with Asperger Syndrome, compared to verbal mental age matched normal children and children with moderate learning difficulties (@DISEASE$).	false
+583d1b21a52cfe95da258f2dba27efa6f3d7d665	@DISEASE$: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and @PHENOTYPICFEATURE$.	false
+48694fc665c678f8a79c5f763f2f04527df958be	Coronary artery disease occurred in 50 patients (80.6%), cardiomyopathy occurred in six (9.7%), valvular heart disease developed in two (3.2%), primary electrical disease developed in two (3.2%), @PHENOTYPICFEATURE$ heart disease materialized in one (1.6%), and @DISEASE$ occurred in one (1.6%).	false
+c923bfb3043d9188bdca49e847cbd52322635cbf	TR can be a result of pathology that directly affects the valvular structure (i.e., @DISEASE$) or as a result of increased forward pressures (ie, pulmonary @PHENOTYPICFEATURE$, left heart failure).	false
+71af7c2480d15d7f2daa6a82c3aa29fd757767ce	Familial @DISEASE$: a report of six cases in two generations associated with mild @PHENOTYPICFEATURE$.	false
+e6dd73eb0545adbad9e23282720231f02baba6d3	Of multiple causes of pure mitral regurgitation, tricuspid valve anular circumference and leaflet area are useful measurements in establishing etiology: dilated anuli (greater than 12 cm) are associated with @DISEASE$, floppy valves, and multiple causes of pulmonary @PHENOTYPICFEATURE$.	false
+34d33ece7e1e63d5ba34a95e358544abb90e3314	The findings suggest a dominantly inherited syndrome of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f7ae3b74bd7c76e4cb3d2215909b2cf4e43f4373	The genetic underpinning of @DISEASE$ and the @PHENOTYPICFEATURE$ reported here is unclear based on our high-resolution dosage mapping.	false
+1e002bcb8d8c87a6d795963cdd712d3aaf5e9939	This report is of a patient with pure trisomy of 15q24-qter who presents with the rare @DISEASE$ and a previously unreported @PHENOTYPICFEATURE$.	false
+700e433570aa4487f028d8a731705b17e0238a49	Netherton syndrome (NTS) is an @DISEASE$ featuring chronic inflammation of the skin, hair anomalies, epidermal hyperplasia with an impaired epidermal barrier function, @PHENOTYPICFEATURE$ and atopic manifestations.	false
+69e6a3a127bea0d507edd9eacbb8a7deff2d6a86	Nonbullous congenital ichthyosiform erythroderma (NCIE) is a nonsyndromic form of @DISEASE$ characterized by @PHENOTYPICFEATURE$ and a disruption in the epidermal permeability barrier.	false
+c7d5f007ec11c2a6fe7bce668e32f9bebd87a241	Two cases of @DISEASE$ associated with @PHENOTYPICFEATURE$, macroglossia and umbilical hernia were studied in relation to the possible etiologies that have been postulated to be responsible for this syndrome.	false
+a701bf44eab33858c93fed58869d750e41c79d1c	Unlike early onset @DISEASE$, this condition is not associated with @PHENOTYPICFEATURE$ or clinical or electric evidences of myotonia.	false
+b56230462313c66a3051f4c854ae885343666354	Repeat expansion diseases include both causes of @DISEASE$ (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited @PHENOTYPICFEATURE$, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome).	false
+ad22b7a464c26bc1b5b0fa391914c59d18294670	Repeat expansion diseases include both causes of @DISEASE$ (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich @PHENOTYPICFEATURE$), and the most common heritable mental retardation (fragile X syndrome).	false
+1dae9b49b8b6204971f1d69d059adf9728f31b4e	Repeat expansion diseases include both causes of @DISEASE$ (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable @PHENOTYPICFEATURE$ (fragile X syndrome).	false
+eb63be3c91a5414c476433869f741032d9a0c776	Repeat expansion diseases include both causes of @DISEASE$ (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive @PHENOTYPICFEATURE$ (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome).	false
+27f5aecd8c81852c09c31476d515446a1c67ec79	@DISEASE$ initially manifested by speech @PHENOTYPICFEATURE$.	false
+2d5e8e98276d42436e9aec93bd56e7297cd11152	@DISEASE$: a neglected cause of @PHENOTYPICFEATURE$.	false
+e553540075976e9ac4e8a145c3178009bae57d47	[A case of @DISEASE$ in a @PHENOTYPICFEATURE$ girl].	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+950a88190ad3e792820e319418cf8e7eb8819426	Some, such as sex-linked @PHENOTYPICFEATURE$ (fragile X), @DISEASE$ or Friedreich's ataxia involve an anomalous number of repetitions, reaching over a thousand of a given trinucleotide.	false
+eab0bdb61a54775ee6bffd6d2c847dcf0bd63b02	Some, such as sex-linked mental retardation (fragile X), @DISEASE$ or Friedreich's @PHENOTYPICFEATURE$ involve an anomalous number of repetitions, reaching over a thousand of a given trinucleotide.	false
+68da0cdeabdb98992d11d19142959178b0139ad0	A case of @DISEASE$ with 47 XYY presented with tall stature and @PHENOTYPICFEATURE$.	false
+bdcbf191d61195572a94482d92c82814e7b6476b	Nevertheless, most survivors have physical deformities and @PHENOTYPICFEATURE$ and are thought to develop @DISEASE$ later.	false
+3c5623fccba70e980b10d33daeea0ca9dcb8bdda	Thirty-six subjects with @DISEASE$ and 20 subjects without neuromuscular @PHENOTYPICFEATURE$ were evaluated.	false
+8c293de05e4d521198a53365bb97f9c4c10bdc99	The experience with @PHENOTYPICFEATURE$ associated with @DISEASE$ is small; therefore, no definitive statement about treatment can be made.	false
+ff6260d6591039cd9f8c04a8f6eb0751db95d466	Clinical diagnosis of acute bacterial sinusitis (@DISEASE$) is a concern when a patient presents with nasal discharge of recent onset together with facial @PHENOTYPICFEATURE$ or pressure.	false
+0c5b3ce1ebc5a570f30c652adc935cab8c0ba492	Treatment with @DISEASE$ prevents inflammation, scar formation, @PHENOTYPICFEATURE$, and mortality in esophageal caustic injuries.	false
+a9d690b6f97a85985aa0384e31904b0667a91a3e	Amniotic band syndrome (@DISEASE$) is a congenital disorder with an associated incidence of @PHENOTYPICFEATURE$ deformity in over 50% of patients.	false
+f7316d9d8fbc295fea960b148a0168fbe1788a10	@PHENOTYPICFEATURE$ is a rare complication of acute bacterial sinusitis (@DISEASE$).	false
+759885325b5993e55b4bd59d9042eb3bdeb52830	Prior to net distribution campaigns in @DISEASE$ and Plateau States, Nigeria, a modified malaria indicator survey was conducted in September 2010 to determine baseline state-level estimates of Plasmodium prevalence, childhood @PHENOTYPICFEATURE$, indoor residual spraying (IRS) coverage and bednet ownership and utilization.	false
+9349ab6574ba445284c9e013513f9d980ba607fc	To compare the actual vacuum pressure at the end of an aspiration bypass system (@DISEASE$) phaco tip and a conventional tip in conditions similar to those during human @PHENOTYPICFEATURE$ surgery.	false
+da2b46e502f5902bea3120ef54fb083a0be98af6	A retrospective review of all patients with @PHENOTYPICFEATURE$ and a concurrent diagnosis of @DISEASE$ were reviewed at a single institution.	false
+5684d4d6d953dc834612a73945106411aa8cb6da	The other identical twin did not show female pseudohermaphroditism with @DISEASE$, but both patients had the rare birth defect of neonatal @PHENOTYPICFEATURE$.	false
+bc45c708cc3fc71ee672cc854712dde1257b31c5	@DISEASE$ is a rare condition in which congenital cataracts, microphthalmia, and @PHENOTYPICFEATURE$ are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation.	false
+dc7adc0199f9dee45a1dcff741fbf07e547a8dbb	Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as @DISEASE$ (OAS) because it is characterized only by the combination of eye and @PHENOTYPICFEATURE$.	false
+acde4b3b641986a4285cbc9a519c85b4f6ef4644	We would like to report the case of a 58-year-old woman who had @DISEASE$ with AR due to Raynaud's symptom, @PHENOTYPICFEATURE$, positive ANA, accelerated ESR, and diastolic blowing murmur along the left sternal border.	false
+fe66891568b369a28e84036d42f72f28d4dc4f6b	Paroxysmal sympathetic storm (@DISEASE$) is a rare syndrome characterized by episodic hypertension, hyperhydrosis, @PHENOTYPICFEATURE$, tachycardia, tachypnea, and extensor posturing.	false
+33ca7f8323f33ba9e3f5361c7d129e43c04a8912	(3) Correlate the gynaecological involvement with salivary and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+e94595d734311c96bd335f0e60140f8bfe8425bc	Associated conditions such as hypopigmentation, small-joint laxity, arachnodactyly, seizure disorder, @PHENOTYPICFEATURE$, congenital heart disease, @DISEASE$, hirsutism, astigmatism/amblyopia, microcephaly and neuropsychiatric disturbances dictate the effects of a contiguous gene syndrome.	false
+6ba86c4ce56164ce64ed72bf62b8037b5fca06cb	Both patients had facial asymmetry and the young man had @PHENOTYPICFEATURE$, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left @DISEASE$ (LCPD) [LCPD-like presentation].	false
+52d3411f0ae35f971dfa9d3c7a7c0fb0a24170eb	To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and @DISEASE$ (FXS), and phosphatase and tensin homolog @PHENOTYPICFEATURE$ syndromes (PTHS), which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling.	false
+c4cf5a2550755997d72eb04b19dd30f120252d6d	To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and fragile X syndrome (@DISEASE$), and phosphatase and tensin homolog @PHENOTYPICFEATURE$ syndromes (PTHS), which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling.	false
+1a012b0cf5e5d84a9427d3ad503d02597368d8f6	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, @DISEASE$, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+16d55c7e86dc5e90e1e6ebeb5fe1b43d286a0b42	Next, studies assessing local and global processing in the dorsal and ventral visual pathways are reviewed for five developmental conditions for which early to mid level visual abilities have been assessed: developmental @PHENOTYPICFEATURE$, autism spectrum disorders, developmental dyspraxia, Williams syndrome and @DISEASE$.	false
+19370a08779fc2b2edcf192579c4c8b0d280bcd6	Autism spectrum disorder (ASD) is frequently accompanied by monogenic disorders, such as tuberous sclerosis complex, phosphatase and tensin homolog tumor @PHENOTYPICFEATURE$ syndrome, neurofibromatosis 1, and @DISEASE$, in which mTOR is hyperactive.	false
+7565f7e205415f0e62f001f05cb066f7ad69fbeb	The 3 conditions are spina bifida, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f3c29f6da31ebd1f51db90c4c38d2c55a0535a71	(1) Sodium channelopathies: familial generalized epilepsy with @PHENOTYPICFEATURE$ plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, episodic ataxia type 1; (3) calcium channelopathies: @DISEASE$, spinocerebellar ataxia type 6, familial hemiplegic migraine, hypokalemic periodic paralysis, central core disease, malignant hyperthermia syndrome, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia.	false
+13a996e557c57b2f0ba18917c6a15dc583504c14	C4-binding protein in sera of patients with @PHENOTYPICFEATURE$ and mixed @DISEASE$.	false
+2fe9e282127cf742805036e0a1d52b38dfc22735	Extrahepatic manifestations include @DISEASE$ (MC) vasculitis, lymphoproliferative disorders, renal disease, insulin resistance, type 2 diabetes, sicca syndrome, rheumatoid arthritis-like polyarthritis, and autoantibody production; reductions in quality of life involve fatigue, depression, and @PHENOTYPICFEATURE$.	false
+85f6bac7d25ecdc0d298a212e77aeb02492810b7	@PHENOTYPICFEATURE$ C @DISEASE$ with undetectable viral load: A case series.	false
+5c445247f126fe317c880f8f81c796d85dcbbd29	If hypocomplementemic urticarial vasculitis syndrome is a classical cause, the majority of patients have an underlying systemic disease like @PHENOTYPICFEATURE$, Sj?gren's syndrome, @DISEASE$, Still disease or cancer.	false
+bdbdfd7f7bff5e3f3aae99912441c5f467dc2e99	As compared to normals, a significant increase (p < 0.001) in plasma titers of both IgM and IgG anti-GM1 ganglioside and IgM and IgG anti-sulfatide was observed in patients with @PHENOTYPICFEATURE$, @DISEASE$ and Sj?g-ren's syndrome.	false
+ee6f1f85017489ab7fcaafb8c9899efd81b6cc58	CXCL10 and its receptor, CXCR3, appear to contribute to the pathogenesis of many autoimmune diseases, organ specific (such as type 1 diabetes, autoimmune thyroiditis, Graves' disease and ophthalmopathy), or systemic (such as rheumatoid arthritis, psoriatic arthritis, @PHENOTYPICFEATURE$, @DISEASE$, Sj?gren syndrome, or systemic sclerosis).	false
+decd95d09890ba5f4d01831916471de76022d05a	It has also been associated with immuno-mediated disorders (HIV infection, graft-vs-host disease, @PHENOTYPICFEATURE$, mixed @DISEASE$), in keeping with immuno-mediated pathogenesis.	false
+f679635bbf3710819548af056fd34a2a926100f0	@PHENOTYPICFEATURE$ C virus in @DISEASE$ and B cell lymphoma.	false
+65fac9932b10f9f641ace825f49ec39d8daa542b	Plasma exchange in glomerulonephritis associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3698a397dea3a2cad4ea3f2ec929064db0e93d29	In patients with @PHENOTYPICFEATURE$, @DISEASE$, and rheumatoid arthritis, the presence of cold-precipitable immune complexes (IC) was investigated by means of two different methods, i.e., the Clq-binding activity (ClqBA) and a competitive enzyme immunoassay, based on solid-phase bovine conglutinin (K).	false
+9d2b0e15e2f6fe5d252801cb0242303262a832db	Untreated @DISEASE$ complicated by obstructive uropathy and oliguric @PHENOTYPICFEATURE$.	false
+753b7bc3bf244a1186f8fe6221c250d672aa9143	Chemoradiation with gemcitabine for @DISEASE$ in patients with @PHENOTYPICFEATURE$.	false
+aa19c4736593eaf800bbeede8f28abdc0ae10835	Clinical procedures of greatest misuse are the prescribing of antibiotics for certain infections, the frequency of @DISEASE$ screening, rigorous pharmacological monitoring of type 2 diabetes in patients over 65 years, the use of psychotropic drugs in the elderly, or the use of analgesics in patients with hypertension or @PHENOTYPICFEATURE$.	false
+dd8dc6a274f64af80fdb9ea2a8ce35f32cd39c8b	Untreated patients with @DISEASE$ and @PHENOTYPICFEATURE$ as manifested by raised serum creatinine were treated with pelvic radiotherapy concurrently with weekly gemcitabine at 300 mg/m2.	false
+73e3d4c31d6b6f36d446de981b255b03a50a6b00	BACKGROUND.: Postoperative @PHENOTYPICFEATURE$ dysfunction is a major complication of radical hysterectomy for @DISEASE$ and is mainly caused by unavoidable damage to the bladder branch of the pelvic plexus (BBPP) associated with colateral blood vessels.	false
+63d5d7c232c49e4b488d306773cfa61b45b06927	A patient with @DISEASE$ had @PHENOTYPICFEATURE$ secondary to bilateral ureteric obstruction.	false
+8d50cf52fb93d6594c73ec88aaf38db57a219e9a	@DISEASE$ in a patient with uterus didelphys and obstructive hemivagina, ipsilateral @PHENOTYPICFEATURE$ (OHVIRA) syndrome.	false
+ed0efd8523c8a61a428986e51ec8360820c8d902	The prognosis of @DISEASE$ patients with @PHENOTYPICFEATURE$ secondary to obstructive uropathy is poor.	false
+98244fffa86e04e83a22af8268faaf7b3c9bcc94	Advanced-stage @DISEASE$ is associated with a high incidence of urological complications such as hydronephrosis, @PHENOTYPICFEATURE$, and vesicovaginal fistula.	false
+123322b47c974072e5fda2f537b70458defa8604	Commonly reported CDs included Down syndrome, cleft lip and palate, talipes equinovarus, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f2a643b3bb42a9a0f47ef4d24e1722577bc14c8c	After untethering of @DISEASE$, some patients present with @PHENOTYPICFEATURE$, defined as retethered cord syndrome.	false
+7a66cade46e8d67b729a012599ff4fb386a00f69	A calcaneocavus foot may be seen in poliomyelitis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5defbd490d722e135b600582a03ba00bc117480e	ITW is an umbrella term that covers all cases of toe-walking without any diagnosed underlying medical condition and before assigning these diagnosis potential differential diagnoses such as cerebral palsy, @PHENOTYPICFEATURE$, @DISEASE$ and myopathy must be ruled out.	false
+b5ad6ac4cea3e8554dbe47cfd518b337e5d9e9f8	Regional capillary malformation of a lower extremity is associated with the @PHENOTYPICFEATURE$ of bone or soft tissue in several disorders, most commonly Klippel-Trenaunay syndrome and @DISEASE$.	false
+4137b4b745b82e8c74fd26106cbfae80c5678bcc	We obtained 51 samples from 51 patients: 13 cystic lymphatic malformations (CLMs), 16 venous malformations (VeMs), 11 arteriovenous malformations (AVMs), 4 combined VMs, 4 PIK3CA-related @PHENOTYPICFEATURE$ spectrum, 1 @DISEASE$, 1 Gorham syndrome, and 1 multiple lymphangioendotheliomatosis with thrombopenia.	false
+28a4d0e5033bf8eb4ba42f2a6f5f016cf2e58049	In this article, which is part 2 of a two-part series, the authors review the most relevant clinical and sonographic features of arteriovenous, capillary, venous and lymphatic malformations as well as vascular malformations that are part of more complex conditions or associated with syndromes, including @DISEASE$, phosphatase and tensin homologue (PTEN) hamartoma tumor syndromes, Klippel-Tr?naunay syndrome, CLOVES (congenital lipomatous @PHENOTYPICFEATURE$, vascular malformations, epidermal nevi and skeletal anomalies) syndrome, fibro-adipose vascular anomaly and Proteus syndrome.	false
+100c17a952c00b1a15a68ea9c1afe7438c5dc09a	@DISEASE$ (PWS) is a congenital @PHENOTYPICFEATURE$ disorder characterized by unilateral limb and axial hypertrophy, capillary malformations of the skin, and high-flow arteriovenous fistulas (AVFs).	false
+5852146aa80356c979c84e41e91806e2dbe4e296	T7D23A mice develop spontaneous acute pancreatitis with @PHENOTYPICFEATURE$, necrosis and serum amylase elevation at an early age followed by progressive atrophic @DISEASE$ with acinar cell loss, fibrosis, dilated ducts and adipose replacement.	false
+691862031803256ab2951ede534cb76365c78ad7	Arterial circulation disturbances, posttraumatic reflexdystrophy ("Sudeck"), @PHENOTYPICFEATURE$ syndromes, erythrodermy syndromes; pain syndromes: causalgiform, splanchnicotomy for @DISEASE$.	false
+b2f3f8c7b959087476582611dfec52510636b473	In analogy with thoracoscopic upper dorsal T2-T3 sympathicolysis for essential @PHENOTYPICFEATURE$, a simplified thoracoscopic splanchnicolysis technique used in 8 patients suffering from either severe refractory @DISEASE$ pain (7 patients) or postsurgical epigastric pain is described.	false
+60e6e142ab2070a05944b107d672f8723991d5ba	While no difference between control and experiment was observed for serum alpha-amylase, weight gain, @PHENOTYPICFEATURE$, and hemorrhage, persistent differences were evident for the parameters characteristic of @DISEASE$, most significantly for interstitial fibrosis, ductal changes, mononuclear infiltration, acinar necrosis, and atrophy.	false
+69f18fd8b07b63ddb2e9aa420a5e980d80bafb52	Histological study of pancreas showed the signs of @DISEASE$, tissue fibrosis, atrophy and @PHENOTYPICFEATURE$ of glandular component, system distension of ducts, nidal mix-cell inflammatory infiltrates, vessels' plethora.	false
+709a9f79ecd55c422f104b9acdd0e08b9058c3d8	Osteoporosis in patients with chronic liver disease probably is not due to impaired calcium absorption but to other complications of liver disease as immobility, @PHENOTYPICFEATURE$, @DISEASE$, alcoholism and malnutrition.	false
+31145e05e5ae1ff7cf9b06c55b127c03564b0494	After its administration, the pancreas microscopically showed prominent interstitial @PHENOTYPICFEATURE$ and intracellular vacuolization of acinar cells in addition to the finding of pre-existing @DISEASE$.	false
+2f927db6ea4b1c8f6a04dd3c4a8c2be5bbf866bb	Autoimmune pancreatitis is a rare variant of @DISEASE$ characterized by pancreatic ductal narrowing and pancreatic parenchymal @PHENOTYPICFEATURE$ on computed tomography and rarely with intermittent attacks of abdominal pain.	false
+d1e0b4acc054d0edbb20ba852f0762758a1b497a	@DISEASE$ is a @PHENOTYPICFEATURE$ seen in children and adults characterized by progressive narrowing of the internal carotid, middle, anterior, and posterior cerebral arteries and the development of leptomeningeal and proximal internal carotid artery collaterals, which appear diaphanous on angiogram.	false
+5d4674d4f5d47d0ab72c640e8a74a4de481d8d13	Although diagnosis of @DISEASE$ was confirmed by cranial angiography, discrepancy between clinical manifestations (right-side dominant @PHENOTYPICFEATURE$) and MRI findings (right-side dominant infarctions) could not be explained.	false
+fcaaa868aaadc93d84ec91e25c41d82d96968cb2	We present such a disease in an 18-month-old Iranian girl with @PHENOTYPICFEATURE$, which is a very rare presentation of @DISEASE$.	false
+0bb4083385bd80ba84622c5ff45b80caed9e67e9	@PHENOTYPICFEATURE$, a possible rare presentation of @DISEASE$.	false
+eb73bc9f727a92b706e64e58e0af9640de4c3918	Thirteen (8%) patients had neurological disorders, including epilepsy (n = 3), attention/memory impairment (n = 3), @PHENOTYPICFEATURE$ (n = 2), peripheral neuropathy (n = 2), multiple sclerosis (n = 1), @DISEASE$ (n = 1) and Steinert's disease (n = 1).	false
+e5ea6b18d2717552b8e5a43fddd78fafcabf3bd9	Cerebral angiography revealed intracranial @PHENOTYPICFEATURE$ compatible with @DISEASE$.	false
+8db5e65568cd72987586b4b8940dff570164391c	@PHENOTYPICFEATURE$, such as arteriovenous malformations, aneurysms, vessel dissection, stenosis, and @DISEASE$, are frequently associated with both IS and HS and lead to high recurrence rates.	false
+778c16e6928ab7eafd347428e4e88bd946e3a5aa	@DISEASE$ is characterized by idiopathic steno-occlusion at the terminal portion of the internal carotid artery with concomitant abnormal vascular networks that can lead to transient ischemic attacks and hemorrhagic stroke with symptoms of headache, confusion, dizziness, @PHENOTYPICFEATURE$, seizure, and cognitive and personality changes.	false
+8f0f746c202ac863df14ae5d2ac2eabed6b3d552	Pure CA can be due to cerebellar malformations as (hereditary or non-hereditary) @PHENOTYPICFEATURE$, @DISEASE$, or occasionally supratentorial abnormalities.	false
+849cf24dec6007197264e8b50c8dd997ebda6bce	[Case of @PHENOTYPICFEATURE$ of the @DISEASE$ type].	false
+9bfad7067e0c8b0315eb178395e2154df5ac49b4	The @DISEASE$ (DWS) is a rare congenital posterior fossa malformation characterized by aplasia or @PHENOTYPICFEATURE$, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.	false
+4d54c2162e4d982ec308f27eb36685192cc4a3a5	@PHENOTYPICFEATURE$ of dogs is analogous to the @DISEASE$ of human beings.	false
+ae14bab668f39f5bead5608284653f505d5b3bc4	Therefore, the @PHENOTYPICFEATURE$ in this puppy was consistent with diagnosis of primary cerebellar malformation comparable to @DISEASE$ in humans.	false
+be58a916488d209c252adc3e6f780f9bd85f3dc1	Agenesis of the corpus callosum with @PHENOTYPICFEATURE$ in a foal resembling the @DISEASE$: pre-mortem diagnosis by clinical evaluation and CT scanning.	false
+4c065c792d7bf190f0e7b25e028e65f0910d1b23	region is associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+be58a916488d209c252adc3e6f780f9bd85f3dc1	Agenesis of the corpus callosum with @PHENOTYPICFEATURE$ in a foal resembling the @DISEASE$: pre-mortem diagnosis by clinical evaluation and CT scanning.	false
+d255c7df22520bd4b1b5b3358cde7facda38aa1a	While prognostic information for @DISEASE$ and non-progressive cerebellar ataxia/@PHENOTYPICFEATURE$ is available, surprisingly scant literature reports are found for space-occupying posterior fossa arachnoid cysts (PFAC).	false
+f55b4858209e8e70439c6405bfc978f02f8b66c4	The commonest anomalies found included: @DISEASE$, @PHENOTYPICFEATURE$, arterial angiomas and alterations in the origin or distribution of the main cerebral arteries.	false
+6458cde61cf037f920d078d14775f96eaa5e99f3	The proportion of the subjects with multiple risk factors including @PHENOTYPICFEATURE$, hyperglycemia, and hypertension was significantly higher in the @DISEASE$ patients with high VFA compared with the control subjects with normal VFA (CAD with high VFA 82% and control with normal VFA 33%).	false
+6c6a9585d9f5e371ca8bcc887bc9c3207163f593	The proportion of the subjects with multiple risk factors including @PHENOTYPICFEATURE$, hyperglycemia, and hypertension was significantly higher in the CAD patients with high VFA compared with the control subjects with normal VFA (@DISEASE$ with high VFA 82% and control with normal VFA 33%).	false
+523d66d9b8e1f17d42e88a9165932d54523de29a	The proportion of the subjects with multiple risk factors including hyperlipidemia, @PHENOTYPICFEATURE$, and hypertension was significantly higher in the CAD patients with high VFA compared with the control subjects with normal VFA (@DISEASE$ with high VFA 82% and control with normal VFA 33%).	false
+18497a44b76e5c999cab7bdcc7293d7a92d097bb	The proportion of the subjects with multiple risk factors including hyperlipidemia, @PHENOTYPICFEATURE$, and hypertension was significantly higher in the @DISEASE$ patients with high VFA compared with the control subjects with normal VFA (CAD with high VFA 82% and control with normal VFA 33%).	false
+e74d51733482140bc1bab26b2a51d8d5abc3ae6b	Chronic conditions included in the analysis were diabetes mellitus, hypertension, @PHENOTYPICFEATURE$, coronary artery disease (@DISEASE$), obesity, alcohol use, smoking, heart failure and ventricular arrhythmias.	false
+034e1278799e3f50c5076da23e55559f09894acb	Chronic conditions included in the analysis were diabetes mellitus, hypertension, hyperlipidemia, coronary artery disease (@DISEASE$), obesity, alcohol use, smoking, heart failure and @PHENOTYPICFEATURE$.	false
+36d55bb2e1bd51b520d127ed17bc316c33e1f9c5	The mechanisms involved in the development of coronary artery disease (@DISEASE$) in the diabetic population are multifactorial, including @PHENOTYPICFEATURE$, hyperlipidemia, hypertension, and insulin resistance, ultimately leading to endothelial dysfunction and accelerated atherogenesis.	false
+7eed2df18484db738ec582c3a0417c43bc9c17cf	The mechanisms involved in the development of coronary artery disease (@DISEASE$) in the diabetic population are multifactorial, including hyperglycemia, @PHENOTYPICFEATURE$, hypertension, and insulin resistance, ultimately leading to endothelial dysfunction and accelerated atherogenesis.	false
+e18c3cb7db751125762bdf0a73bb86476a0b09bd	Postprandial @PHENOTYPICFEATURE$ has been linked to premature coronary artery disease (@DISEASE$) in fasting normotriglyceridemic patients.	false
+bb9ae98887c682fe25c8121f91c77a29a4999e8f	Previous @PHENOTYPICFEATURE$ was associated with @DISEASE$ among high vascular risk patients.	false
+1d70eae332657a94c601c6f1a3843fa595c8fa72	In this respect, glucose @PHENOTYPICFEATURE$, indicated by HbA1c, may play an important role in premature @DISEASE$.	false
+376a9cd7320c2b41c1ed54c65108ecb0a68ce08b	@PHENOTYPICFEATURE$ and elevated circulating OxLDL in DM patients with @DISEASE$ severely impair EPC migration.	false
+5dc1adb965da5b9adc4d26cee9aad1f75fbe2803	Patient with CAD and MS had higher risk than those with only @DISEASE$ because of lipid and glucose @PHENOTYPICFEATURE$.	false
+f54588002b89ee63df863a94357df7040d29598e	Patient with @DISEASE$ and MS had higher risk than those with only CAD because of lipid and glucose @PHENOTYPICFEATURE$.	false
+688123e0f41384edb02c373dc2d93d1c42fe2bb2	Diagnostic angiography revealed triple-vessel coronary artery disease (@DISEASE$) and bilateral severe @PHENOTYPICFEATURE$.	false
+79c8dcdac393635c8d6663102c6a8ebe4001c9bf	To analyze the incidence of coronary artery disease (@DISEASE$) and outcome of patients with @PHENOTYPICFEATURE$ (LVNC).	false
+2ccab99f0cd5433d6f1c06df630447bc74b76f2d	Infantile bilateral @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+5ee91e169048ca64aa48bc2853f5e04a3284580f	The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, @DISEASE$, clefting) and different minor features (including small and @PHENOTYPICFEATURE$, and recurrent conjunctivitis believed to be because of stenotic and blocked nasolacrimal ducts) of the EEC3 syndrome.	false
+55fc8cc45799d7f29a8f20a6651a271840484b0f	@DISEASE$ with eyebrow alopecia, @PHENOTYPICFEATURE$, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia.	false
+583f322644fd50beaa332d67061d739d157441b2	We report a 13-year-old boy with @DISEASE$, ectrodactyly, and syndactyly, hypospadias, photophobia, @PHENOTYPICFEATURE$, and perioral papillomatosis.	false
+b577113e247c03a0a076f01b22cd3567cd1d45f8	It is known with various names including split hand-@PHENOTYPICFEATURE$-@DISEASE$-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot.	false
+28276c2a450e2479378e234b032d6eae80066a7e	@DISEASE$ can result in eyelid and @PHENOTYPICFEATURE$, requiring a KPro for visual restoration.	false
+c856802fef2b821e32b2c006adc5d3bf9a1e954d	The presence of @DISEASE$ symptoms increases the risk of complications in cleft surgery and treatment of hand and @PHENOTYPICFEATURE$ or orbital area malformations.	false
+b0f97a9e6efd808dd8634b28f900f417e391a624	@DISEASE$, ectrodactyly, clefting, anophthalmia/@PHENOTYPICFEATURE$, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.	false
+5d8a30a257b0a9075df35cfc2fcf4787f7e1f01b	Otodental dysplasia, a form of @DISEASE$, is characterized by abnormal dental crown morphology and @PHENOTYPICFEATURE$.	false
+32ee98c219af6f95eecc6d68baa8e0a0935cbe9e	Otodental dysplasia is an @DISEASE$ characterized by abnormal crown morphology of the teeth and @PHENOTYPICFEATURE$.	false
+e97929435f0a5f53a1bfeee0cc4c43fc8a11178a	Infants with DiGeorge anomaly can display additional manifestations within the spectrum of @DISEASE$ sequence, including @PHENOTYPICFEATURE$ and renal agenesis.	false
+705a21cdb77093bca11a4703d4ebbc3794f6632e	There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the original operational definition of idiopathic generalized epilepsy (IGE) syndromes, including benign @PHENOTYPICFEATURE$ epilepsy in infancy; generalized epilepsy with febrile seizures plus, an entity in evolution; epilepsy with myoclonic absences; epilepsy with myoclonic-astatic seizures; childhood absence epilepsy; juvenile absence epilepsy; @DISEASE$; and epilepsy with generalized tonic-clonic seizures only.	false
+0c785ac8fcf21dc7da5d7200c7525f98d1aa999b	The aim of the study was to determine the possible relationship between different clinical and EEG features and executive functions in patients with juvenile @PHENOTYPICFEATURE$ epilepsy (JME), i.e. to determine if sex, age, duration, absences, clinical asymmetric seizures, asymmetry or focality in epileptiform activity in EEG, EEG slow activity and familiar occurrences are associated with frontal dysfunction in @DISEASE$ patients.	false
+9e5b6095d6308ca98d71d98e9187ccdf9bd55bdf	Tongue-base @PHENOTYPICFEATURE$ in @DISEASE$.	false
+30c3b11bd376d5c8e05d06ccd86762341e196307	Photodynamic therapy for exudative @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4511151403fef52193eb21ac27f93afb6f62a8de	Astrocytic @PHENOTYPICFEATURE$ in @DISEASE$ mimicking necrotizing retinochoroiditis.	false
+d43805925d0417fb48c4e28b93eac11be741b345	[Hepatic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d4dce25ec192907594759ec33615b385dec1613f	Hepatic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+921776f1727f41c148ef02abe258748fc7e8fb25	Loss of TSC genes function triggers @PHENOTYPICFEATURE$ development in @DISEASE$ patients.	false
+2344de08eb8fefee579db7151d9746721d3b20a5	Astrocytic @PHENOTYPICFEATURE$ of the retina not associated with @DISEASE$.	false
+82d08607e812edb9c5a8ec6650b09b04cd5904d9	Other causes were encephalitis, Sydenham's chorea, systemic lupus erythematosus, @PHENOTYPICFEATURE$, non-ketotic hyperglycaemia, and @DISEASE$.	false
+3a9c0da973b82e91ff7e5492cc68e9f647f53b13	Glossal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6f2c1f2935e010bb488e234c91a7a42162b23505	Bony @PHENOTYPICFEATURE$ of the inferior orbital rim in a patient with @DISEASE$.	false
+7c299c90554478572b50784456ca1c5335b382c2	Hartsfield @DISEASE$-@PHENOTYPICFEATURE$ syndrome in five male patients: further delineation and review.	false
+fad3c635ae7b764239b9475ffe42871c0ec39952	We hypothesised that a single key developmental gene may underlie the co-occurrence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+596d9a66ce282ec9499485cf55da967113972d17	Harstfield syndrome is the rare and unique association of holoprosencephaly (@DISEASE$) and @PHENOTYPICFEATURE$, with or without cleft lip and palate, and variable additional features.	false
+1dfd1e43b51bf734bfa14234a5e28c6fe3232eb7	No study has focused on using refractometer to rapidly determine total protein ratio of @PHENOTYPICFEATURE$ fluid to blood concentration (TPe/TPb) and, to differentiate hydrostatic pulmonary edema (@DISEASE$) from adult respiratory distress syndrome (ARDS).	false
+0c64ba670fcd7e88c8012ae70fb462a977703a01	There has been great interest in identifying a genetic cause for the findings in patients with @DISEASE$ and @PHENOTYPICFEATURE$; however the cause(s) of this rare association still remain unknown.	false
+f041cd942bda0ea3ae2a9cc1e85a7a3a61b7d045	The @PHENOTYPICFEATURE$ in @DISEASE$ was associated with: increased low attenuation on CT; decreased T(1) and increased T(2) signal on MR imaging; increased cerebral perfusion on single emission computed tomography (SPECT) and perfusion MR imaging;did not show restricted diffusion on MR imaging.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+32111fe6a6a1690189750f21ca8897ebb5f199af	These amplifiable polymorphisms provided predictions of heterozygosity for Fabry disease and should be useful for diagnostic linkage analyses in Alport syndrome, X-linked @PHENOTYPICFEATURE$ and ankyloglossia, Pelizaeus-Merzbacher disease, and @DISEASE$ as well as sequence-tagged sites for gene mapping.	false
+c8804d5d9addeb5a5e28325f4eef0dc1d7beb6a4	@DISEASE$ with hearing impairment, dystonia-@PHENOTYPICFEATURE$, and progressive neurodegeneration.	false
+e5bbcabfd4cf430d9f19e70c6b4aaf4428ac0bb2	The problem of @PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+e59c78e5c1c6177d9ca5a2c8a6c93060f192bc9d	Pancreatic polypeptide and insulin-secreting @PHENOTYPICFEATURE$ in a dog with duodenal ulcers and @DISEASE$.	false
+66f67a3d0d9f497169c9a01ffc90d2c3a4c6ed84	[@DISEASE$ simulating a @PHENOTYPICFEATURE$].	false
+825e4c1eae44b762b085f14538c86a3779e26274	[@DISEASE$ simulating a @PHENOTYPICFEATURE$ in roentgenographic examination].	false
+1a263ff26bdc6d7827404cc773218f54538498bf	[@DISEASE$ simulating @PHENOTYPICFEATURE$].	false
+d16005e7b9af9572c0518f630425a944d96d49aa	[Chronic, @DISEASE$ with giant folds and @PHENOTYPICFEATURE$-like appearance in x-ray].	false
+c0f1a1cbaf27af0aad73084ffafcc5dc97e49ec2	Surgery finds its best role in treating gastrointestinal protein loss from @PHENOTYPICFEATURE$, inflammatory bowel disease, and @DISEASE$.	false
+4c841fed551497adb223c424f7bf46c903815ebf	Metachronous @PHENOTYPICFEATURE$ may be found 1 to 5 years after @DISEASE$ has been diagnozed.	false
+c7ccbc8300738b4d443bbda3acf8290de4ac5c72	[Pathological anatomy of benign @PHENOTYPICFEATURE$, hamartomas and pseudotumors of the stomach (polyposis and @DISEASE$ excepted)].	false
+caf08fbf82fb1359e90221a52b20d28a4daa68dc	All 3 dogs also developed gastric @PHENOTYPICFEATURE$, which has been reported in human M?n?trier disease but has not been associated previously with @DISEASE$ in domestic species.	false
+c2e7ffab2252275ecd453f1f8931330006b5ec61	In a subset of NEO and @DISEASE$ patients matched for clinical stage, no significant differences were found in the rates of LRR according to primary @PHENOTYPICFEATURE$ size and number of +LNs when these variables were analyzed independently.	false
+51ce0349270697766e481806daa0e9d7794b0bc8	Administration of levamisole following AM had a significant effect on the ability of mice to resist rechallenge with @DISEASE$-PC5 @PHENOTYPICFEATURE$ and in tumor cell neutralization.	false
+4de76dc2a2c355d086f49b46e35d1ac5b34ea291	Administration of levamisole following AM had a significant effect on the ability of mice to resist rechallenge with @DISEASE$-PC5 tumor and in @PHENOTYPICFEATURE$ cell neutralization.	false
+ab59fb014256b84ea7dcf8391e32038992f4af04	We present our experience on this regard in patients with cirrhosis, acute viral hepatitis, infectious mononucleosis, @DISEASE$, fulminant hepatic failure, malaria due to plasmodium falciparum, @PHENOTYPICFEATURE$, severe malnutrition due to gastric obstruction, septicemia, pyogenic hepatic abscess, amoebic hepatic abscess and in a 14 years old patient with fracture of the skull-acute anemia-shock.	false
+2211ff7246eb695c43912b6eda675271531377f4	Sera from four patients with @DISEASE$, which recognized halothane-induced rabbit liver neoantigens of 100, 76 and 57 kD, reacted strongly with antigens of very similar molecular weights that were expressed in livers from two patients who had died of @PHENOTYPICFEATURE$ following recent anesthesia with halothane.	false
+8628de568b895fbb54eba7dfb14bfc22451159bc	Immune mediated movement disorders include @PHENOTYPICFEATURE$ in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as @DISEASE$, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome.	false
+c5afec2545e18a00a6816e5daf71daed6a0c7768	Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune @PHENOTYPICFEATURE$ such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as @DISEASE$, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome.	false
+dd4a59444feb87ef531ae46e7df93ae713263233	Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune @PHENOTYPICFEATURE$ such as @DISEASE$, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome.	false
+26931c2ca64f84aae5ee57fe90a9e2cb8e79a073	@DISEASE$ (OMS) is a rare acquired @PHENOTYPICFEATURE$ occurring in all age groups, predominantly in infants.	false
+40c2ce38d0ed712b180204b23da2dcabb1f04e34	Opsoclonus-myoclonus syndrome (@DISEASE$) is a rare acquired @PHENOTYPICFEATURE$ occurring in all age groups, predominantly in infants.	false
+c72b1437ed96cef467d4b2a951c6db58684f0d81	Most of the disorders studied were myoclonic disorders, such as progressive myoclonus epilepsy, the @DISEASE$, and essential myoclonus, but other @PHENOTYPICFEATURE$, interictal seizure disorders, and different neurological and nonneurological disorders were also included.	false
+d2b6b97e84889b10c7db9f75500713b53e593b74	Opsoclonus-myoclonus-ataxia (@DISEASE$) is a rare, autoimmune, neurobehavioral syndrome that presents with a @PHENOTYPICFEATURE$, developmental regression, behavior disorder and cognitive decline.	false
+830237bf548698768b3b843f80875de27579d914	@DISEASE$ (OMAS) is a very infrequent paraneoplastic or postinfectious @PHENOTYPICFEATURE$, which may occur at any age, most commonly between 6 and 36 months of age.	false
+377c11a39bab42ee278364f76a5644260d76a6e2	Opsoclonus-myoclonus syndrome (@DISEASE$), a @PHENOTYPICFEATURE$ characterised by chaotic eye movements and myoclonus, is a rare clinical entity.	false
+ac81eb089533c29c95483009b33e3e8f78af1721	@DISEASE$ (OMS), a @PHENOTYPICFEATURE$ characterised by chaotic eye movements and myoclonus, is a rare clinical entity.	false
+57cb0850ea3787ca20816a38c8751e1d60925be4	Childhood @DISEASE$ (OMS) is a @PHENOTYPICFEATURE$ which typically strikes children in the early preschool years, seriously affecting intellectual, social-emotional and general adaptive development.	false
+76ee50a4a576d00530b6fcc2eb22d4619c04d6c1	Childhood opsoclonus-myoclonus syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ which typically strikes children in the early preschool years, seriously affecting intellectual, social-emotional and general adaptive development.	false
+52f008a91f94e83590c3986840b92b91b8dd6adb	Opsoclonus-myoclonus-ataxia syndrome (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by chaotic saccadic, high amplitude, multidirectional and involuntary eye movements usually associated with myoclonus affecting the head, trunk, limbs and signs of cerebellar ataxia, especially the inability to stand and walk.	false
+531af92e749c1dc91ffeb5f6559b4d0741ca7aec	@DISEASE$ (OMS) is a rare @PHENOTYPICFEATURE$ characterized by chaotic saccadic, high amplitude, multidirectional and involuntary eye movements usually associated with myoclonus affecting the head, trunk, limbs and signs of cerebellar ataxia, especially the inability to stand and walk.	false
+88f763c92cf8301b1966e26f7887c8263cc0fbe8	@DISEASE$ (OMS) is a rare @PHENOTYPICFEATURE$ characterized by chaotic eye movements, myoclonus, and ataxia associated with severe irritability.	false
+e670e33b6ecdcba065a61438155745ae29e31395	Opsoclonus-myoclonus syndrome (@DISEASE$) is a rare @PHENOTYPICFEATURE$ characterized by chaotic eye movements, myoclonus, and ataxia associated with severe irritability.	false
+363d6955960570654fdac40998b7805daa698f9b	A systematic review identified seven possible risk factors for epilepsy in @DISEASE$ patients: hippocampal volume reduction, infarct on prenatal ultrasound, a modified Alberta Stroke Program Early Computed Tomography score ?9, family history of seizures, cerebral palsy, and initial presentation with cognitive impairment or @PHENOTYPICFEATURE$.	false
+0308d6865b0a4d088b919f1be37c9876235f95a0	A systematic review identified seven possible risk factors for epilepsy in @DISEASE$ patients: hippocampal volume reduction, infarct on prenatal ultrasound, a modified Alberta Stroke Program Early Computed Tomography score ?9, family history of @PHENOTYPICFEATURE$, cerebral palsy, and initial presentation with cognitive impairment or seizures.	false
+fe414ece21e5060d825ef18ee67ef6a589a4dd69	Nine neonates with @DISEASE$ @PHENOTYPICFEATURE$ and EEG monitoring were identified.	false
+e7ff934c07e87b6c4df152f27e3472acf0c7d034	Approximately 80% of @PHENOTYPICFEATURE$ events were the result of clinically unsuspected seizures in neonates with @DISEASE$.	false
+74364e167ca4e9d6485ac123c186054d4ac013de	Approximately 80% of seizure events were the result of clinically unsuspected @PHENOTYPICFEATURE$ in neonates with @DISEASE$.	false
+db2f8406d9cecae8bdfc84971a680d482741c2b3	[@DISEASE$ and heredo-@PHENOTYPICFEATURE$].	false
+56708c39d98da974699d89af91169cbfdb1589e0	[Hereditary association of tapeto-retinal dystrophy, @DISEASE$, with spinal-cerebellar Friedreich's @PHENOTYPICFEATURE$].	false
+1f97438965db8847a59f6e37b954c066b125d07f	To determine the nature, extent, and severity of renal involvement in Laurence-Moon-Biedl syndrome (obesity, @PHENOTYPICFEATURE$, polydactyly, hypogonadism, and @DISEASE$), we evaluated 20 of 30 patients with the disorder identified from ophthalmologic records in Newfoundland.	false
+61b7ab6b8aedc0ea0a632dfb412d6f74b6938deb	All infants with @DISEASE$ had hemorrhagic @PHENOTYPICFEATURE$.	false
+1c5f1cc524fac422324484d7a1054fbd73f0eaa2	With respect to the contribution of meconium-induced @PHENOTYPICFEATURE$, inflammation and vasoconstriction on the course of the disease, glucocorticoids are increasingly used in the treatment of @DISEASE$ despite the fact that principal questions on the choice of GCs derivative, mode of delivery and dosing have not been answered yet.	false
+b8f96895bd7c2d59b9569607bc7035eb59547d38	Inflammation, oxidation, @PHENOTYPICFEATURE$, and other factors participate in surfactant dysfunction in meconium aspiration syndrome (@DISEASE$).	false
+501958366b473ca3fab83017a2dd8841c8be30f8	The pathophysiology of functional deficiency of pulmonary surfactant in the neonatal respiratory disorders represented by @DISEASE$, hemorrhagic @PHENOTYPICFEATURE$ and ARDS was discussed.	false
+50f2b1173a1a2f5d5efd655d923cb7fc4a0ecad2	Each of the anti-inflammatory agents reduced @PHENOTYPICFEATURE$ and neutrophil influx into the lung and partly reversed surfactant dysfunction in the @DISEASE$ model, with a superior effect observed after glucocorticoids and the antioxidant N-acetylcysteine.	false
+83e979ef643437dfe5987b8f0b42b48f48b1ed35	@DISEASE$ causes respiratory failure after birth and in vivo monitoring of @PHENOTYPICFEATURE$ is difficult.	false
+e6d4f97b1a8643e3fce2bb69e09afde387d10331	Neurophysiological fingerprints of @DISEASE$: A model @PHENOTYPICFEATURE$.	false
+8d2030f2e60211b4043f560dd1c2e994364adf42	In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of @PHENOTYPICFEATURE$ indicate inborn @DISEASE$ of cholesterol biosynthesis.	false
+14d4178ce092f1e7b8eb378f4c42d6122b9b9376	SLOS is an inborn @DISEASE$ of cholesterol synthesis associated with @PHENOTYPICFEATURE$ and malformations involving almost all the systems of the body.	false
+55b0b9a500d3d7d7ca97a1c60daf66f45724c531	Diagnosis was confirmed by the presence of fetal subcutaneous @PHENOTYPICFEATURE$ (? 5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn @DISEASE$) analysis and fetal echocardiography.	false
+a5c163baa216bfae7efe9e9f1780c07b671a48ed	The infant presented with @DISEASE$ hyperkalemia, neonatal hyperbilirubinemia, anemia, hepatic dysfunction, and @PHENOTYPICFEATURE$.	false
+e3d6218c00ecfc99969115ff96236ad4b57243eb	Stress conditions like hypoxia, ischemia, and ischemia/reperfusion can trigger excessive endoplasmic reticulum stress (@DISEASE$), which can lead to cell apoptosis-induced @PHENOTYPICFEATURE$ in non-hibernators.	false
+83a0ae0d4aef7595347d5f2314ce6f70caeff9ef	We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn @DISEASE$ of protein glycosylation characterised by @PHENOTYPICFEATURE$, neurological dysfunction and a unique pattern of physical abnormalities.	false
+009529084dac31d054cf167a7cd61197aa5a4952	Methylmalonic acidemia (MMA) is an inborn @DISEASE$ of organic acid metabolism that occurs in infancy with hypotonia, vomiting, dehydration, lethargy and @PHENOTYPICFEATURE$ and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia.	false
+4f032c87c328c6641421d2654aa2014d22ec488a	As the heart is a metabolically active organ, inborn @DISEASE$ in metabolism (IEMs) often present with cardiac manifestations such as cardiomyopathy, @PHENOTYPICFEATURE$, and valvular dysfunction.	false
+96c4fe8f3f6eb0211b09e8c0abcdc741c76bfc90	Early repolarization syndrome (@DISEASE$) is an inherited @PHENOTYPICFEATURE$ syndrome associated with sudden cardiac death.	false
+cc024c4aeec4a949631005387c0d43275dc5cf8a	Glutaric Aciduria type 1 (GA1) is a metabolic inborn @DISEASE$ and is characterized by increasing excursion of glutaric acid and its derivates, presented in @PHENOTYPICFEATURE$ and dystonia.	false
+de4959495c0a6265fb15790029fbc77cb8901b59	Facial and cranial alterations may occur, including hypertelorism, @DISEASE$, divergent strabismus, malformed ears, anteverted nares, retrognathism, and @PHENOTYPICFEATURE$.	false
+43cb598a41d9de726d1dd1abc85086b909ee0ada	The present case is a girl with agenesis of the corpus callosum, a large @PHENOTYPICFEATURE$, @DISEASE$, hypertelorism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus.	false
+21cb62ee7cecc5f813b2a33423f900ff1d4617a0	As discussed in this case, the presence of @DISEASE$ may represent a lacrimal system @PHENOTYPICFEATURE$, either malignant or benign, and should always prompt further investigation.	false
+1af74d6e0eda03ed42eb7ec22687736468ba4166	We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, @DISEASE$, @PHENOTYPICFEATURE$, preauricular skin tags/pit, camptodactyly, and foot anomalies.	false
+56162b423b9f8eb89a17926b9e906b283b680eba	Toriello-Carey syndrome (TCS; OMIM 217980) is a multiple congenital anomaly syndrome characterized by the common manifestations of corpus callosum agenesis, cardiac defects, @PHENOTYPICFEATURE$/Robin sequence, hypotonia, mental retardation, postnatal growth retardation and distinctive facial dysmorphology (including micrognathia, @DISEASE$, small nose and full cheeks).	false
+8bcaa5542db13e55e813373c5093ba65f1aaddc2	We present herein two sisters with BBS, one of whom also had @PHENOTYPICFEATURE$ and cerebral and cerebellar atrophy, and both of whom had ocular abnormalities in the form of epicanthus and @DISEASE$ and metabolic syndrome.	false
+1455dd4f085da35e245f8b019285a2b08f71c0fc	Two non-related patients, a boy and a girl, are described suffering from distal arthrogryposis and facial dysmorphism consisting of flat face, hypertelorism and @DISEASE$, small mouth with thin, downturned upper lip, micrognathia, @PHENOTYPICFEATURE$ and simple, low-set, posteriorly angulated ears.	false
+d55a2649107b0753a51d17e0df2e9e1bd86e536e	We report on a 25-year-old male with mental retardation and global developmental delay, low levels of total and LDL cholesterol and dysmorphism, which includes macrocephaly, hypertelorism, synophrys, @DISEASE$, prominent philtrum, low set ears, bilateral cataracts, bilateral cleft lip with @PHENOTYPICFEATURE$ and widely spaced nipples.	false
+5f38af26cb2a4fdd10c4e4cdc215270466f4880e	The phenotype comprises a distinctive facial appearance that includes blepharophimosis, maxillary hypoplasia, @DISEASE$, microtia and atresia of the external auditory meatus, intellectual disability, digital @PHENOTYPICFEATURE$ and skeletal anomalies together with subependymal and subcortical neuronal heterotopia.	false
+63105d77b3c10f78788a070e9c5202f7c0b7f1de	The infant had microcephaly, @DISEASE$, blepharophimosis, @PHENOTYPICFEATURE$, micrognathia, abnormally modeled ears, hypoplastic left heart, hypoplastic radii and ulnae with radial subluxation, pseudoarthrotic distal humeri, fused metacarpals, tibial bowing, unusual feet with long halluces, hydronephrosis, patent urachus, abnormal electroencephalogram, and normal karyotype.	false
+4ba1533433227483e5ff602b4c6c78da6dcef6df	Deficiency in Caytaxin causes @DISEASE$, a disorder characterized by cerebellar dysfunction and @PHENOTYPICFEATURE$.	false
+40fc570404e6c6200df3b08d6c5b31bb7f7a5a6e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive @PHENOTYPICFEATURE$ associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+7b0a55ff33f7d219931ebbc80d9ad8a7caf264d3	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar @PHENOTYPICFEATURE$ with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+418eba8b83b796b9aeed0f15e09beb2503fcb41d	A genetic linkage study was performed with markers spanning the Friedreich @PHENOTYPICFEATURE$, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+4fe799cee20db4998695ccf19c40b98bc319d43d	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, @PHENOTYPICFEATURE$ with mental retardation optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+948aebae89615821e2f8ca1cc55354fc48e8a78e	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with isolated vitamin E deficiency, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, @DISEASE$, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+ef9f94f013d349d77bdd28545c4eee828be711b7	Mutations in a novel gene encoding a CRAL-TRIO domain cause human @DISEASE$ and @PHENOTYPICFEATURE$/dystonia in the jittery mouse.	false
+c9ac80919359a05d6ed51321ee1d1dd2cd2c150c	@DISEASE$ is a recessive congenital @PHENOTYPICFEATURE$ restricted to one area of Grand Cayman Island.	false
+8c5727343f89be5fb4b13c49d81f1552fcffbbfb	The @DISEASE$ is a subtype of the cancer family syndrome, with @PHENOTYPICFEATURE$ being the most frequent visceral malignancies.	false
+810b29bc76d095d4bd5094e53eb2eeb53ae030d8	Generally, pancreatic polypeptide-secreting @PHENOTYPICFEATURE$ of the distal pancreas (@DISEASE$) is classified as a rare tumor, and may occur sporadically or be associated in families or with multiple endocrine neoplasia type 1 (NEM 1).	false
+dba17c3a1bd26e55d10b5dd207388903a3c5414b	Generally, pancreatic polypeptide-secreting tumor of the distal pancreas (@DISEASE$) is classified as a rare @PHENOTYPICFEATURE$, and may occur sporadically or be associated in families or with multiple endocrine neoplasia type 1 (NEM 1).	false
+0c631397720a3d072f58e23f22a9e1d6f891ce8c	Symptomatic pancreatic polypeptide-secreting @PHENOTYPICFEATURE$ of the distal pancreas (@DISEASE$).	false
+dcd05ec01903683e25e04c0b25e083196d564e2a	It is to be hoped that further study of @PHENOTYPICFEATURE$ such as the somatostatinoma and @DISEASE$ may yield further information about these enigmatic compounds.	false
+5c94459587ac3b0bcf0d10a455c65c30ff770708	Immunocytochemical screening revealed that among hormone-positive tumors (approximately 80% of the @PHENOTYPICFEATURE$), @DISEASE$ (PPomas), glucagonomas, and insulinomas were the most frequent.	false
+765aee0be0e488e7c49c462717cd2dbf698e4739	Immunocytochemical screening revealed that among hormone-positive @PHENOTYPICFEATURE$ (approximately 80% of the tumors), @DISEASE$ (PPomas), glucagonomas, and insulinomas were the most frequent.	false
+19a58c9e5a93422340aad6903b44e324c863f845	The Cushing's syndrome diagnosis due to rare ectopic neuroendocrine tumour adrenocorticotropic hormone secretion can be made only with selective angiography, whereas non-functional and pancreatic polypeptide producing neuroendocrine @PHENOTYPICFEATURE$ (@DISEASE$) present without any symptoms.	false
+9fe012da750fa434f2a1d2ffaaf5cea8fc33748a	The Cushing's syndrome diagnosis due to rare ectopic neuroendocrine @PHENOTYPICFEATURE$ adrenocorticotropic hormone secretion can be made only with selective angiography, whereas non-functional and pancreatic polypeptide producing neuroendocrine tumours (@DISEASE$) present without any symptoms.	false
+d380ab9e3b44fc8a5e826a3f4dde2ac23ed0fbf7	A 58-year-old woman presented with multiple gastroduodenal ulcera caused by a pancreatic polypeptidoma (@DISEASE$) without hypergastrinemia or gastrin-producing @PHENOTYPICFEATURE$ cells.	false
+d38924e1709b47e56f8af12e80ce750eae32a0fc	A 58-year-old woman presented with multiple gastroduodenal ulcera caused by a @DISEASE$ (PPoma) without hypergastrinemia or gastrin-producing @PHENOTYPICFEATURE$ cells.	false
+311666c7012027ec25d7983e964f43c7e44e76e4	In addition to the two disease-defining features of @DISEASE$ and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, @PHENOTYPICFEATURE$, tremor, ataxia, dysarthria, cognitive defects, pulmonary hypertension, nystagmus, and vision loss due to retinopathy.	false
+8dcb483ff111fb16e75ab76a7b6c040bbb40a8b0	In addition to the two disease-defining features of @DISEASE$ and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, spasticity, tremor, @PHENOTYPICFEATURE$, dysarthria, cognitive defects, pulmonary hypertension, nystagmus, and vision loss due to retinopathy.	false
+ed6351e5954359d7327de3c96b86a7e8cf573f00	Although these investigations often were restricted by the availability of blood samples from the maternal grandparents or great-grandparents, we were able to prove a de novo @PHENOTYPICFEATURE$ in 9 of 20 families with sporadic @DISEASE$ and in 3 of 20 families with a history of the disease.	false
+40d06e6f4fb82e613853885c851e713a701775c2	Furthermore, our data indicate that the @DISEASE$ gene pool is mainly renewed by variable @PHENOTYPICFEATURE$.	false
+aefa201f452744249bc6a4da91d7a8269691494d	Discussions around the applicability of HealthCoin for breakthrough therapies on the horizon, such as gene therapies for @PHENOTYPICFEATURE$ and @DISEASE$, and the feasibility of instituting such payments through new legislations or demonstration projects could be of great value.	false
+4f47f411be20b23fab4d60e1e80a1b946516d2f1	@DISEASE$ (ARMD) is a leading cause of @PHENOTYPICFEATURE$.	false
+1e00260fd52672e6169d85cb2e70a34195307155	Age-related macular degeneration (@DISEASE$) is a leading cause of @PHENOTYPICFEATURE$.	false
+3f35a5f129b5ee172d9c15e180cb72db4dc1c466	@DISEASE$: a leading cause of @PHENOTYPICFEATURE$.	false
+df479665cf85d6d5d528e17db6fd5510c36f9521	@DISEASE$ (AMD) is a common cause of @PHENOTYPICFEATURE$ worldwide.	false
+ae9400ba9a98d8472b6b15ff7fb0169e38cbd2bb	Age-related macular degeneration (@DISEASE$) is a common cause of @PHENOTYPICFEATURE$ worldwide.	false
+716f33b8dc4551c5a1490870ee626ecbc9c77bf2	Age related macular degeneration (@DISEASE$) is a leading cause of @PHENOTYPICFEATURE$.	false
+628aeab6fb92fd8d4fb889a49e5f37bed78a7c87	@DISEASE$ (AMD) is a leading cause of @PHENOTYPICFEATURE$.	false
+3f35a5f129b5ee172d9c15e180cb72db4dc1c466	@DISEASE$: a leading cause of @PHENOTYPICFEATURE$.	false
+499664e99fefc0f1093f29b5ac3402785750e8ba	The five leading causes of blindness, in decreasing frequency, were @DISEASE$ (ARMD), glaucoma, diabetic retinopathy, myopic degeneration, and @PHENOTYPICFEATURE$.	false
+0fa17e5be4c4c1ce4862029059e518e349317989	The five leading causes of @PHENOTYPICFEATURE$, in decreasing frequency, were @DISEASE$ (ARMD), glaucoma, diabetic retinopathy, myopic degeneration, and optic atrophy.	false
+1336e50fbd96a8aee1128458d8c09b567dcaad33	The five leading causes of blindness, in decreasing frequency, were age-related macular degeneration (@DISEASE$), glaucoma, diabetic retinopathy, myopic degeneration, and @PHENOTYPICFEATURE$.	false
+536ef916406d0a34cccf0913b6c4e761d372661f	The five leading causes of @PHENOTYPICFEATURE$, in decreasing frequency, were age-related macular degeneration (@DISEASE$), glaucoma, diabetic retinopathy, myopic degeneration, and optic atrophy.	false
+628aeab6fb92fd8d4fb889a49e5f37bed78a7c87	@DISEASE$ (AMD) is a leading cause of @PHENOTYPICFEATURE$.	false
+1e00260fd52672e6169d85cb2e70a34195307155	Age-related macular degeneration (@DISEASE$) is a leading cause of @PHENOTYPICFEATURE$.	false
+3f35a5f129b5ee172d9c15e180cb72db4dc1c466	@DISEASE$: a leading cause of @PHENOTYPICFEATURE$.	false
+20ba0d3b672a4acfce7b30b079669c8640a267d6	The other causes of @PHENOTYPICFEATURE$ in decreasing order includes maculopathy (4.3%), retinitis pigmentosa (3.4%), optic atrophy, phtisis bulbi, keratopathy (each 2.6%) and @DISEASE$ (0.9%).	false
+04e3b70da545a7e2b72553cc9c325d7be5eeccb3	The other causes of blindness in decreasing order includes maculopathy (4.3%), retinitis pigmentosa (3.4%), @PHENOTYPICFEATURE$, phtisis bulbi, keratopathy (each 2.6%) and @DISEASE$ (0.9%).	false
+628aeab6fb92fd8d4fb889a49e5f37bed78a7c87	@DISEASE$ (AMD) is a leading cause of @PHENOTYPICFEATURE$.	false
+1e00260fd52672e6169d85cb2e70a34195307155	Age-related macular degeneration (@DISEASE$) is a leading cause of @PHENOTYPICFEATURE$.	false
+dc5e7758d1fffde78fa2e08c79467b553cb04e77	The frequencies of folate-sensitive autosomal rare fragile sites (@DISEASE$) were compared in populations of @PHENOTYPICFEATURE$, mentally subnormal, and mentally normal children and of patients referred for diagnostic chromosome study.	false
+6ab209e25cf5d14bc3916d26debcd1461e0905e6	[A case of @DISEASE$ wih Adams-Stokes @PHENOTYPICFEATURE$ due to complete A-V block (author's transl)].	false
+2a2a25d9dac91546ecd9340e79e79b155a26539d	There was history of head injury, @DISEASE$, @PHENOTYPICFEATURE$, taking anti-psychosis drug or contact with toxins, but any one factor could not completely explain the etiology of PD.	false
+ba4c51c3775e4bc929ad1f7f3ec001a8396c19a0	Three heterogeneous mouse models of @DISEASE$ were studied: Maleate nephrotoxicity, unilateral @PHENOTYPICFEATURE$, and LPS preconditioning.	false
+4e27dcbc235a04cc6442b96de893e84bdef35242	@DISEASE$ has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, @PHENOTYPICFEATURE$ growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism.	false
+6b9304a117b069cbc1c4d39dcd1f1179b6102917	Preoperative @DISEASE$ does not change the surgical management of pelvic @PHENOTYPICFEATURE$.	false
+3cee8a02bf26737008928b4391aed13cf06d4621	No differences in the FFS or OS between the two RT treatment methods and no differences in the @DISEASE$ or OS between HFRT and CFRT were found when analyzed by age, gender, tumor size, @PHENOTYPICFEATURE$ invasiveness, nodal status, histologic features, stage, or primary site.	false
+c99d1c45ea9598a09f1a0b33f80df1e6f7657f5b	No differences in the @DISEASE$ or OS between the two RT treatment methods and no differences in the FFS or OS between HFRT and CFRT were found when analyzed by age, gender, tumor size, @PHENOTYPICFEATURE$ invasiveness, nodal status, histologic features, stage, or primary site.	false
+c54c7f5b93e878d500879da18e1397d607b709e9	No differences in the FFS or OS between the two RT treatment methods and no differences in the @DISEASE$ or OS between HFRT and CFRT were found when analyzed by age, gender, @PHENOTYPICFEATURE$ size, tumor invasiveness, nodal status, histologic features, stage, or primary site.	false
+41f650d6c1d0f46633529d21b252d8a646218bb9	No differences in the @DISEASE$ or OS between the two RT treatment methods and no differences in the FFS or OS between HFRT and CFRT were found when analyzed by age, gender, @PHENOTYPICFEATURE$ size, tumor invasiveness, nodal status, histologic features, stage, or primary site.	false
+41d2f6506e3e5420e4896452cfc245e3999a75eb	Similar overall but better prostate cancer-specific survival among @DISEASE$ patients is most plausibly explained by differences between the HMO and FFS patients in both @PHENOTYPICFEATURE$ characteristics and unmeasured patient selection factors.	false
+fe10a5c67d240bc5092c6be71fb66efa35e93e34	Similar overall but better prostate cancer-specific survival among FFS patients is most plausibly explained by differences between the HMO and @DISEASE$ patients in both @PHENOTYPICFEATURE$ characteristics and unmeasured patient selection factors.	false
+cecff3d12fc896fdc49eaedb9c06f2c979345bb1	All 15 patients with extrinsic compression at @DISEASE$ had @PHENOTYPICFEATURE$ adhering to the bowel.	false
+f16d73fe8b506aa24b152099b2cfc84bf4aaeee0	As well, there was no difference in @DISEASE$ or OS between CFRT and HFRT when analyzed by age, gender, tumor size, @PHENOTYPICFEATURE$ invasiveness, modal status, histology, stage or site of primary.	false
+85af1625f90d046fcf564e3be9700e6b4b18bfae	As well, there was no difference in @DISEASE$ or OS between CFRT and HFRT when analyzed by age, gender, @PHENOTYPICFEATURE$ size, tumor invasiveness, modal status, histology, stage or site of primary.	false
+4d7af1e30aea4fda0100d0e1755f4887b54aa2fe	Pre-HDRT tumor volume and 3-month post-treatment @PHENOTYPICFEATURE$ volume were both associated with @DISEASE$ (p<0.01) but not OS.	false
+8d27a13b6217363e46914de72f7111c6ce6fa6f0	Pre-HDRT @PHENOTYPICFEATURE$ volume and 3-month post-treatment tumor volume were both associated with @DISEASE$ (p<0.01) but not OS.	false
+301c3d9b70b2048d38bbe06f6455eb79a50eb0b2	Five-year @DISEASE$ was 60% in patients with EBV-positive versus 85% in EBV-negative @PHENOTYPICFEATURE$ (P = .01).	false
+a64432487d2c360f07498983ded83d42c694c623	Data of patients with FFS found at ultrasound were reviewed, 136 patients with @DISEASE$ were included, and 112 patients with hepatocellular carcinoma and 65 patients with liver metastatic tumor (173 @PHENOTYPICFEATURE$) were selected as control group.	false
+b7372f4e025ac5574dc021f7e032b111da3c6f30	Data of patients with @DISEASE$ found at ultrasound were reviewed, 136 patients with FFS were included, and 112 patients with hepatocellular carcinoma and 65 patients with liver metastatic tumor (173 @PHENOTYPICFEATURE$) were selected as control group.	false
+0dd5fd128181c126c229682289712da6b862c082	After adjusting for age and histological differences, @DISEASE$ was better for patients whose @PHENOTYPICFEATURE$ was debulked prior to beginning therapy [P = 0.02].	false
+f6a8a890f57a51d13b0ee186b3a12dd7378ccbc7	We compared stage at diagnosis, demographic characteristics, and @PHENOTYPICFEATURE$ characteristics for @DISEASE$ or HMO enrollment in the periods before and after the 1998 policy change.	false
+73a4c7912ba15e9f8187c9a29a1f9267f4b85e61	@DISEASE$ is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple @PHENOTYPICFEATURE$ associated to a recently described neurodegenerative process.	false
+a11e1aa49c528e974abae327c101a6b83d43ffc0	The most common skeletal manifestations in @DISEASE$ were arachnodactyly, @PHENOTYPICFEATURE$, camptodactyly, scoliosis, and joint hypermobility.	false
+9c4fdd2d60a3813f7d1ceccfb2eb20be0fc0a634	Type I (complex and classic type) @DISEASE$ patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic @PHENOTYPICFEATURE$ (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs).	false
+885205aa79635798a3c7e1d24d0ebdd54b32cfdb	Based on characteristic facial and @PHENOTYPICFEATURE$ and severe developmental delay, we clinically diagnosed him with @DISEASE$.	false
+143ca2610a4c37d9e4f5f7aee3bff7e9a1aa3a8e	A case of @DISEASE$ caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent @PHENOTYPICFEATURE$.	false
+6dc032f9f213413ae5300e97584617dfcfa98e91	Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as @PHENOTYPICFEATURE$, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and @DISEASE$)--a condition known as maternal PKU syndrome.	false
+e0d3b303255a7fda0af5c94de22a040d317dd0c9	A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, @PHENOTYPICFEATURE$, right hand ectrodactyly, hypoplastic nails, omphalocele, @DISEASE$, renal dilatation, and splayed symphysis pubis.	false
+e3985985b4a55b721a3529a1b56f59529d5fe737	In the remaining 14 patients, RP was secondary to anorectal malformation (n = 2), @DISEASE$ (n = 1), sacrococcygeal teratoma (n = 1) and myelomeningocele (n = 1) or associated with @PHENOTYPICFEATURE$ (n = 8) and Asperger's syndrome (n = 1).	false
+c548d285bde610b4626b55b688e586de4d6f2a68	Human hereditary @DISEASE$ (HT1), caused by mutations in the FAH gene, is an autosomal recessive disorder in which the patient usually dies of liver fibrosis and cirrhosis during early childhood; NTBC treatment is known to prolong HT1 children's lives-although liver fibrosis, cirrhosis, hepatocarcinoma, and @PHENOTYPICFEATURE$ sometimes occur.	false
+a267a96cc8787d142a262ade1ea3be46e0b6f7c1	To describe a patient with hereditary @DISEASE$ (HHT-I) treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) who developed @PHENOTYPICFEATURE$.	false
+a621440034d76b009cb20cd063eaaa97b4cf965e	In multivariate analysis, malnutrition (odds ratio [95% confidence interval] = 1.53 [1.22, 1.92]), age of the child (24-59 months; 1.67 [1.28, 2.19]), fever (1.65 [1.28, 2.12]), @PHENOTYPICFEATURE$ (1.87 [1.48, 2.37]), straining (5.93 [4.80, 7.33]), and infection with Shigella (3.26 [2.38, 4.46]) and Vibrio cholerae (2.21 [1.07, 4.58]) were shown to be significantly associated with @DISEASE$.	false
+7cd19644b2b2917fd240d4a9a503b8db9e6c339c	We determined an association between @DISEASE$ phenotype and @PHENOTYPICFEATURE$, reflected by low-level education and related clinical profiles.	false
+e7d2c13ca4baf8ba256fc1b05534cdd839cf0070	Maternal characteristics (ethnicity, maternal age, obstetric history, @PHENOTYPICFEATURE$ and vaginal bleeding), crown rump length (CRL) and mean gestational sac diameter (@DISEASE$) were recorded.	false
+5a5b32a3afe215968e269a4dac4e49c9be6c4ccb	Besides @PHENOTYPICFEATURE$, other endocrine disorders have been associated with male sexual dysfunction (@DISEASE$).	false
+713fe7325ef31869741bbaad59ebdb045647aace	He had @PHENOTYPICFEATURE$ and preputial hyperplasia consistent with @DISEASE$.	false
+f368f65d44b8bdd77c435b28eb077a9c7b3f0cf7	Infants with @DISEASE$ plus @PHENOTYPICFEATURE$ and those with other associated CFM phenotypes were less facially expressive than same-aged peers.	false
+e6ef848b3323ecf9c2b980e632730d2463ba1898	@DISEASE$-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with @PHENOTYPICFEATURE$.	false
+42054bace81f1ba7e66fa099627425c5cd4b73eb	[@PHENOTYPICFEATURE$-@DISEASE$-facial cleft-conductive deafness].	false
+825a12adfb4ec87901ac44f1df5be25e52019afd	Conclusions Youth with CFM, particularly those with @PHENOTYPICFEATURE$ plus @DISEASE$ and/or hearing loss, should be closely monitored for speech and language concerns.	false
+5cb0e51cc60d558679a820a5f19f508d34f224d1	Case-control differences were limited to infants with @DISEASE$ plus @PHENOTYPICFEATURE$ and other associated CFM features, which were the most common phenotypes and were characterized by decreased expressiveness relative to control infants.	false
+a499b1531c8a1cc9b554e34936e6d3830d910d95	TBCI is a safe and effective method of promoting hearing gains in @DISEASE$ patients with bilateral @PHENOTYPICFEATURE$.	false
+60d14730b538885ffab468a63aedbb775edeb70d	A patient with 47, XXY karyotype, Klinefelter Syndrome, and hemifacial microsomia (unilateral @DISEASE$ and @PHENOTYPICFEATURE$) is described.	false
+822942e1b8752e71ff250a23e000de106b2b1537	Two of the cases had other defects related to the embryopathy: @DISEASE$, eye abnormalities and @PHENOTYPICFEATURE$.	false
+5b04bfb71690b381e08f380221bf905ba305811c	Differences were most pronounced among participants with CFM who had @PHENOTYPICFEATURE$ plus @DISEASE$ (adjusted ES = -1.15 to -0.18).	false
+293df908fe9787c85705dc3c50a87db6b5205860	Analyses by facial phenotype showed that case-control group differences were largest for cases with both @DISEASE$ and @PHENOTYPICFEATURE$ (effect sizes, -0.02 to -0.6).	false
+ebc5d6ccd6ac5947ac27d6fa81b078a2c09614d9	We describe the case of a 33-year-old man with complex partial seizures characterized by the feeling of being projected outside his body, including dissociation of "mind and self from body" (disembodiment), followed by vestibular @PHENOTYPICFEATURE$ due to right frontal lobe epilepsy caused by an @DISEASE$.	false
+c4bea073613792e405ef38db89862e0d4a86b1c2	Neural tube defect and microcephaly associated with maternal cabergoline use; Down syndrome and corpus callosum agenesis associated with maternal bromocriptine use; unilateral congenital cataract, craniosynostosis and @PHENOTYPICFEATURE$ associated with maternal @DISEASE$ were detected for the first time.	false
+b05e912243274c2c8be64f62bc0032fa63071755	Neural tube defect and @PHENOTYPICFEATURE$ associated with maternal cabergoline use; Down syndrome and corpus callosum agenesis associated with maternal bromocriptine use; unilateral congenital cataract, craniosynostosis and microcephaly associated with maternal @DISEASE$ were detected for the first time.	false
+11d65b43ffd98ad7a7072fe8ec0c98896c1047d7	We found no sustained arrhythmias and a lack of @PHENOTYPICFEATURE$-related symptoms at baseline and after 1?year of SA treatment in a contemporary cohort of @DISEASE$ patients that also present a low frequency of structural heart changes, indicating that these patients may have a lower frequency of heart disease than previously reported.	false
+5a7d4a44a4cb7777c44c7250d64a01b64a9bbdc8	Rapidly reversible myocardial @PHENOTYPICFEATURE$ in patients with @DISEASE$: assessment with ultrafast T2 mapping in a single-breath-hold MRI sequence.	false
+bb18211dff7795281ac55959cdb1d7118ddb50ef	Patients with @DISEASE$ have increased myocardial T2 values, which decrease soon after treatment, reflecting reversible myocardial @PHENOTYPICFEATURE$.	false
+840d2f1e1719614e4451300b072401bc56e827fb	Although postoperative evaluation indicated a cure of @DISEASE$, progressive bulbar symptoms developed, which were followed by upper limb weakness and @PHENOTYPICFEATURE$.	false
+8995c4bdc2ada03bfd312785e75fa1e3554c23dd	In a controlled study, the cardiac involvement and @PHENOTYPICFEATURE$ profile of 32 patients with @DISEASE$ were correlated with endocrine parameters (somatomedine C, growth hormone), clinical score and duration of the disease.	false
+b267f4942d9f9bb8dafc1441e4ebe7ea1493a257	Evidence for subtle @DISEASE$, serotonin dysregulation, bacterial @PHENOTYPICFEATURE$ and central dysregulation continue to accumulate.	false
+c3f403039c866b959ff3117694c8d75aed0393b9	Extraintestinal manifestations of @DISEASE$ occurred in half the patients (sacroillitis, peripheral arthritis and @PHENOTYPICFEATURE$).	false
+0fd4121692f84993a21bee5ef451274e591e4610	We believe that the locations of atherosclerotic lesions correspond to regions of neurogenic adventitial @PHENOTYPICFEATURE$, in similar fashion to the segmental patterns of involvement found in @DISEASE$.	false
+459cd3e3f2fc3c01433c4ef9a61d1dac0454510e	Systematic review with meta-analysis: the prevalence of small intestinal bacterial @PHENOTYPICFEATURE$ in @DISEASE$.	false
+edd5191ef246e31346b5c4e513f55c712d9a330b	Small intestinal bacterial @PHENOTYPICFEATURE$ is significantly higher in @DISEASE$ patients compared with controls.	false
+fefad3637efa4254154892080d8cfe79a8d1d42d	Inflammation plays a critical role in the development and progression of cancer, evident in multiple patient populations manifesting increased, non-resolving inflammation, such as @DISEASE$, viral hepatitis and @PHENOTYPICFEATURE$.	false
+e29b3bf39a3186a0fcd8314d7b5d96698eef6c4c	Inflammation plays a critical role in the development and progression of cancer, evident in multiple patient populations manifesting increased, non-resolving inflammation, such as @DISEASE$, @PHENOTYPICFEATURE$ and obesity.	false
+774543ec585e0b35f25234f4f124455b46f42133	A number of cutaneous changes are known to occur in the course of inflammatory bowel diseases (@DISEASE$), including pyoderma gangrenosum, @PHENOTYPICFEATURE$, perianal disease, erythematous eruptions, urticaria, and purpura.	false
+4f9b5377e614025ed29ea227030db3abb556f8ec	A number of cutaneous changes are known to occur in the course of @DISEASE$ (IBD), including pyoderma gangrenosum, @PHENOTYPICFEATURE$, perianal disease, erythematous eruptions, urticaria, and purpura.	false
+797ab2d722f51db716457b33c5d78743b45abcc6	Small intestinal bacterial @PHENOTYPICFEATURE$ and orocecal transit time in patients of @DISEASE$.	false
+ac0c038a8930fd2574d1898b585f7527204cc284	German shepherd dogs (GSD) are predisposed to enteropathies such as @DISEASE$ (IBD) and small intestinal bacterial @PHENOTYPICFEATURE$ (SIBO).	false
+e58328a4ed4e5498c7de6e1869fe32d98e28a2ec	German shepherd dogs (GSD) are predisposed to enteropathies such as inflammatory bowel disease (@DISEASE$) and small intestinal bacterial @PHENOTYPICFEATURE$ (SIBO).	false
+eb42d54766025bf2c8100b51b2643e019706b45d	The most commonly encountered chronic enteropathies in dogs are inflammatory bowel disease (@DISEASE$), food allergies, and small intestinal bacterial @PHENOTYPICFEATURE$.	false
+ac4dd48b14367c934395f34de32dcfe71ac52043	The most commonly encountered chronic enteropathies in dogs are @DISEASE$ (IBD), food allergies, and small intestinal bacterial @PHENOTYPICFEATURE$.	false
+92b3f03db24867ada66675ca75719cc669aba17b	Transthyretin @DISEASE$ (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to @PHENOTYPICFEATURE$ or wasting syndrome.	false
+e6d6cfc3960815b5d63740381b26b1974a3926ce	[Case report of transthyretin Val30Met @DISEASE$ presenting @PHENOTYPICFEATURE$].	false
+9baca2a0c69d52458935adb7bef8fd7042132aa2	Following the recent publication of the landmark ATTR-ACT trial that showed tafamidis to be the first treatment to improve survival in patients with TTR-related cardiac amyloidosis and @PHENOTYPICFEATURE$, we reviewed the drug's rationale, characteristics and evidence supporting its use in @DISEASE$.	false
+e19b5388ff6ff840bbec1204a7ac058165fcf57a	To our knowledge, this is the first case of the Portuguese variant of @DISEASE$ presenting with @PHENOTYPICFEATURE$ in the fifth decade of life.	false
+b1dc5509fff8de4f7edcd571aa6878019cb7a7a1	We report a rare case of @DISEASE$ cardiomyopathy to heighten the awareness of this rare but lethal cause of @PHENOTYPICFEATURE$, as therapeutic interventions such as liver or heart transplant could be curative in selected patients.	false
+573723eb2bcf0630de0f8e0a381b887f590d71d6	Previous work has demonstrated that @DISEASE$ (FAP) and light-chain amyloidosis with similar degrees of cardiac involvement cannot be distinguished by standard echocardiographic parameters, yet the severity of @PHENOTYPICFEATURE$ and cardiac mortality is much less in FAP.	false
+a2c917a52e72b2f7f54fbbe0ae507a8efe1262d8	The third mutation, Glu54Lys, has been identified as a cause of severe @DISEASE$; the family members with this mutation exhibited severe motor and autonomic neuropathy, early vitreous opacity, and fatal @PHENOTYPICFEATURE$.	false
+38ae642b63f2f848b4d0a347cf362aea6483546a	An exception in which the liver shows no morphological or functional alteration is with @DISEASE$, during which moderate to severe @PHENOTYPICFEATURE$ implies surgical treatment consisting of a liver or even heart-liver transplantation.	false
+d716bc3e421da240ce489909586614fdfd7b247d	The genetic defect is associated with nearly uniform @PHENOTYPICFEATURE$, @DISEASE$, and possible cervical spine instability that contribute to potentially increased risk of airway complications.	false
+62990e86cdf91264eacdea14616696b97a6b0bad	The IOI-HA score with hearing aid use was significantly correlated with @DISEASE$ and the severity of @PHENOTYPICFEATURE$.	false
+bc03510749916d0d30ba2a55d26a8d8d7f60de74	Neonatal diabetes should be considered in babies presenting with early hyperglycemia particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype-genotype correlation in Wolcott-Rallison syndrome.@PHENOTYPICFEATURE$, in our case MCDK, can be seen in @DISEASE$.	false
+98e4b34d154da2385045aa213997d3ac6b223a03	Neonatal diabetes should be considered in babies presenting with early hyperglycemia particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype-genotype correlation in @DISEASE$.@PHENOTYPICFEATURE$, in our case MCDK, can be seen in WRS.	false
+d60c0e091ce9201722d8c0be302a5a7ce4f540a8	After adjusting for age, gender and comorbidities of hypertension, diabetes mellitus, hyperlipidemia, coronary artery disease, asthma, chronic obstructive pulmonary disease, chronic kidney disease, @PHENOTYPICFEATURE$, obesity, and atrial fibrillation, the @DISEASE$ patients had a 1.48-fold higher risk of ischemic stroke than the comparison cohort, but it was not statistically significant.	false
+b1f19597ea3e2ed25d588bd406113713a6fe9a96	After adjusting for age, gender and comorbidities of hypertension, diabetes mellitus, hyperlipidemia, coronary artery disease, asthma, chronic obstructive pulmonary disease, chronic kidney disease, heart failure, @PHENOTYPICFEATURE$, and atrial fibrillation, the @DISEASE$ patients had a 1.48-fold higher risk of ischemic stroke than the comparison cohort, but it was not statistically significant.	false
+253ea6e25b369b1a7174c4a74c3738b354c90ba4	The @DISEASE$ is characterized by prolonged ventricular repolarization and a variable clinical course with @PHENOTYPICFEATURE$-related syncope and sudden death.	false
+dcfc4c515ac880732894acb4bf9403d37abd3338	Timothy syndrome (TS) is a malignant form of @DISEASE$ with a mode of @PHENOTYPICFEATURE$ onset often triggered by enhanced sympathetic tone.	false
+c6e048128cd7c86a58e576ac78d4acb2cd16f546	Sudden arousal has been associated with sudden cardiac death in individuals with ischemic heart disease, @PHENOTYPICFEATURE$, and the @DISEASE$.	false
+b2581fa7b01224eb203d613eccf76492e9bcdbe7	Long-term proarrhythmic pharmacotherapy among patients with @DISEASE$ and risk of @PHENOTYPICFEATURE$ and mortality.	false
+dbd0d65f01512da88eaa84ee49a0b5a5dd04c528	@DISEASE$ (LQTS) with atrioventricular block is a rare and malignant @PHENOTYPICFEATURE$, which usually responds poorly to traditional beta-blocker therapy.	false
+1fdb314874a77032a21edb7929e294528114de75	Calmodulin (CaM) mutations are associated with @PHENOTYPICFEATURE$ susceptibility including @DISEASE$ (LQTS).	false
+1495cb2e364baaf9944c75f174eeede5ef3aeb09	@DISEASE$ (LQTS) is a sporadic or familial inherited @PHENOTYPICFEATURE$.	false
+5ee4cf50b699a710927cb33d930520c09bb5f8cb	In the @DISEASE$, @PHENOTYPICFEATURE$ risk changes with age despite the presence of an ion channel mutation throughout development.	false
+2ebc58a755fd06b2cbdf8a104f34386062c9b1df	@DISEASE$ type 3 (LQT3) is an inherited @PHENOTYPICFEATURE$ disorder due to mutations in the cardiac sodium channel gene, SCN5A.	false
+7b50e7e8dae6b63b311edecc259922961cd0fd61	@DISEASE$ (LQTS) is characterised by prolongation of the QT interval on ECG and @PHENOTYPICFEATURE$, syncopes and sudden death.	false
+48dc03d1478bbc07ad857eb98eba0b69643eef3f	@PHENOTYPICFEATURE$, metabolic acidosis, and postoperative multiple organ failure after anesthesia for cesarean section in a patient with @DISEASE$: a case report.	false
+66b5b799aca4c27c11a3b49e3da10fe6d794ebd6	Tricky case of @DISEASE$ in a young child presenting with @PHENOTYPICFEATURE$ and femoral pulses.	false
+a7d54f0d73d38f412585de0b79b58581662d473a	A?Japanese 11-month-old baby boy presented with @DISEASE$ and @PHENOTYPICFEATURE$, possibly due to afterload mismatch caused by high blood pressure.	false
+7624e749e7008442036446243b5d450d7d28bd2c	Although unusual, this case indicates that the diagnosis of @DISEASE$ should be considered in children with unexplained systemic symptoms, aortic valve regurgitation, and @PHENOTYPICFEATURE$.	false
+071bfd17d52a18b9ddbf98b06c41876323cb64c0	Surgically relieving obliterated vessels with @DISEASE$ is an effective therapy for a patient presenting with severe @PHENOTYPICFEATURE$.	false
+bb5d025abf35c02ed09ccfdbf43abc1a0b429ef1	Utility and safety of tocilizumab in @DISEASE$ with severe @PHENOTYPICFEATURE$ and muscle wasting.	false
+ff769019a893a061a6670cf9ed66443a0648c91a	The underlying causes were @PHENOTYPICFEATURE$, uncontrolled hypertension and @DISEASE$.	false
+306a2b82db2b05ab96e0e46045f9f25fc9f174ef	The reported cardiovascular manifestations in IBD patients include pericarditis, myocarditis, venous and arterial thromboembolism, arrhythmias, atrioventricular block, @PHENOTYPICFEATURE$, endocarditis, valvulopathies, and @DISEASE$.	false
+8232bb7a1e99b40e2d1a75defb3a506b86319cef	@DISEASE$ presenting with acute @PHENOTYPICFEATURE$.	false
+efb8aca9f8cb175200cbd6315da48222cde6d824	Combined spinal-epidural anesthesia for cesarean section in a patient with @DISEASE$ complicated by @PHENOTYPICFEATURE$.	false
+2eeecfce934714a108e46a1238c651a5e0272ec8	Moreover, in both CD and UC, there occur several other inflammatory skin conditions such as erythema nodosum, pyoderma gangrenosum, hidradenitis suppurativa, chronic oral aphthous disease, @DISEASE$, pyostomatitis vegetans, and bowel-associated dermatosis-@PHENOTYPICFEATURE$ syndrome.	false
+0d7a8d4fe6fc2525b7eeacd391593c2a723af5af	The @DISEASE$, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical @PHENOTYPICFEATURE$, kidneys and nervous system.	false
+306f5d8db4c01e5facd52e11eeaeca9a65072fe4	We present a female case with congenital cataracts, severe intellectual impairment, @PHENOTYPICFEATURE$, and renal tubular dysfunction as @DISEASE$.	false
+17826b7d0b36ea1dcfcb923d855f8197e8f0ec2c	The @DISEASE$ (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital @PHENOTYPICFEATURE$ and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia.	false
+dee84966c203bd6a53e35e3f5a262dae603586b7	The oculocerebrorenal syndrome (@DISEASE$), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital @PHENOTYPICFEATURE$ and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia.	false
+c1da5dc9701a2aa75611b8df9c683d8d5816e656	Ephraim McDowell and the @DISEASE$ @PHENOTYPICFEATURE$.	false
+1db3501cee46bff23f23ed5f547814544bb11299	[@DISEASE$ @PHENOTYPICFEATURE$ and drug prescription in hospitalized patients].	false
+1a903ac62f5f8bb42a4294a1d228b8a52ddfd753	@DISEASE$ hypernephroma simulating right atrial @PHENOTYPICFEATURE$.	false
+33657d8d52304412df37f2147b6ee5291f942eec	A high rate of association between supernumerary nipples (SNNs) and @DISEASE$ @PHENOTYPICFEATURE$ has previously been reported.	false
+6d1ff23e92cdbf243a1efb3c05b86656443c5bfb	A search for the @DISEASE$ @PHENOTYPICFEATURE$ should also be part of the diagnostic investigation.	false
+9dcbbffb507d51df06f07dff0d7c377f1ae51d75	@DISEASE$ is associated with rare long-term complications such as type AA amyloidosis, @PHENOTYPICFEATURE$, abdominal adhesions, renal angiomyolipoma, and severe pneumococcal infections.	false
+11c08e1195185f714eb49e00994064303d9bf09e	Endoscopy is helpful to visualize @DISEASE$ @PHENOTYPICFEATURE$ remnants and maximize safe tumor removal.	false
+0eefc61afa1d1372308c7b546b6368d97fe78b93	Endoscopy is helpful to visualize @DISEASE$ tumor remnants and maximize safe @PHENOTYPICFEATURE$ removal.	false
+cc10a027974eb86f609797c645d7a9ed483e077d	Using the Cockcroft-Gault equation 11.2% of study population had @DISEASE$ renal failure and 12% when using MDRD, and 16.3% of patients with hidden @PHENOTYPICFEATURE$ using Cockcroft-Gault equation had coronary events.	false
+b845d568a17de58d956416531d0f2b6c13e54573	Using the Cockcroft-Gault equation 11.2% of study population had hidden @PHENOTYPICFEATURE$ and 12% when using MDRD, and 16.3% of patients with @DISEASE$ renal failure using Cockcroft-Gault equation had coronary events.	false
+7c59081044609c433a2b62b7e966e6373d501654	Using the Cockcroft-Gault equation 11.2% of study population had hidden renal failure and 12% when using MDRD, and 16.3% of patients with @DISEASE$ @PHENOTYPICFEATURE$ using Cockcroft-Gault equation had coronary events.	false
+b1b999d3372b60198c1815925304aad364afae43	Using the Cockcroft-Gault equation 11.2% of study population had @DISEASE$ @PHENOTYPICFEATURE$ and 12% when using MDRD, and 16.3% of patients with hidden renal failure using Cockcroft-Gault equation had coronary events.	false
+319f78a192b1e07c9c66472129345357477f0c49	[@DISEASE$ @PHENOTYPICFEATURE$ in diabetics with no known cardiovascular disease].	false
+095b47177a217be2923b496674bfe69a284f2e90	A deceitful stroke, a @DISEASE$ @PHENOTYPICFEATURE$.	false
+a39a3a22f662431f7e787be8e2cf415650b80b43	We conclude that elevated GABA combined with low glutamine suggest disruption of the glial-neuronal glutamine/GABA/glutamate shuttle necessary for replenishment of neuronal neurotransmitters, whereas altered dopamine and serotonin metabolism may be causally linked to the hyperkinetic @PHENOTYPICFEATURE$ and behavioral disturbances seen in @DISEASE$ patients.	false
+c72a047211996d783d041321ea224c723c9c31f3	Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with @DISEASE$, @PHENOTYPICFEATURE$ and speech delay.	false
+6f6080b48b8a3fee7d72b9bef77a7ebd676cc5a9	Early recognition and treatment planning for dental care is needed for children with @PHENOTYPICFEATURE$/oligodontia/@DISEASE$.	false
+6283d6506634a0299c5aa1ed17ac411ba553bb0c	Maxillary @DISEASE$ and mandibular @PHENOTYPICFEATURE$ prevailed.	false
+2e216d0cea00c770072d68aa83d30cc353a6f63a	Ectodermal dysplasias (ED) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures, such as hypohidrosis, hypotrichosis, onychodysplasia and @PHENOTYPICFEATURE$ or @DISEASE$.	false
+afabb41bfe99a0ef570f5d5aec35319352c3ec98	All patients had @PHENOTYPICFEATURE$, hypotrichosis and hypo/@DISEASE$ (respectively 8/10 and 2/10).	false
+798089674704bca6ff28132c611741da7fd1cfb6	@DISEASE$ or @PHENOTYPICFEATURE$ is the most striking dental manifestation.	false
+7fa45746be21c5dd0c16907b16f94d4b6429493b	[@DISEASE$ @PHENOTYPICFEATURE$ and rare case of infantilism with hypodontia in two sisters].	false
+58551e1366c47fcaaf73479187c53e38f3737933	@DISEASE$ or @PHENOTYPICFEATURE$ may be associated with other ectodermal disturbances, such as anhidrosis, asteatosis, hypotrichosis, and salivary glands defects.	false
+798089674704bca6ff28132c611741da7fd1cfb6	@DISEASE$ or @PHENOTYPICFEATURE$ is the most striking dental manifestation.	false
+0a9b7948e573c0fd17aa50ed4f691ac0a9b179a5	Intraorally, common findings are @DISEASE$ or @PHENOTYPICFEATURE$, conical teeth, and, consequently, generalized spacing.	false
+e308699fb54d91cc8d863967a9daf0ceac68bad5	Depending on the variety, hypohidrosis, hypotrichosis, @PHENOTYPICFEATURE$, oligodontia, and/or @DISEASE$ may be exhibited.	false
+93992dc248783269e6bc9d2251eb092eb6874b26	The trends for @DISEASE$ and @PHENOTYPICFEATURE$ disappeared once registries with disparate results were excluded.	false
+b5831b8d60376e06a72338464fe747e149cd5f97	Here we report a 2.5 years old patient with a cleft lip, @DISEASE$, @PHENOTYPICFEATURE$ and cryptorchidism.	false
+0cc4c0faefbe1ea9525a08255f51485698adb488	The syndrome includes bilateral facial and abducens nerve paresis, muscular hypoplasia, adactylia, @DISEASE$, and possible @PHENOTYPICFEATURE$.	false
+10b7c02b5141ebc3cc8f4958cb200708671b5ab5	We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, @DISEASE$, absence of the 12th rib, @PHENOTYPICFEATURE$) and severe mental retardation.	false
+14bc2cd801cdd8446c02c31a40b4b32391cdf29e	We report on an 18-month-old girl with multiple congenital anomalies (prominence of the metopic suture, fine hair, @DISEASE$, absence of the 12th rib, brachydactyly) and @PHENOTYPICFEATURE$.	false
+1d0f9c5c8cc985158aa3138fc2ebc8b9ca99c896	Other associated anomalies included @PHENOTYPICFEATURE$, @DISEASE$ and capillary malformation.	false
+35b3d9de260ea71d52ac23ab43cfe0742fbe7a65	The other most common anomalies associated with cases with DS were @PHENOTYPICFEATURE$, @DISEASE$, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia.	false
+6106fb955551eca8761f1412e08f0c176dd92dca	@PHENOTYPICFEATURE$, @DISEASE$, exencephaly and anal atresia were also observed frequently.	false
+155f61fd7a30991f1eee1721424e1cfd3903faf6	A variety of gross malformations occurred, i.e. encephalocele, cranial @PHENOTYPICFEATURE$, omphalocele, ectrodactyly, @DISEASE$, defects in tail, anal atresia, shortened backbone and Spina bifida occulta.	false
+d265b4614d89716640d25a2a47380c8bf3ffcb62	The most prevalent condition in the survey was @DISEASE$, whereas @PHENOTYPICFEATURE$ had the highest burden of disease.	false
+fab1879df285491f7dad72ef7e067378ccf29b21	The @PHENOTYPICFEATURE$ @DISEASE$.	false
+795f53474d4a2584dd949b544c08d3d7e80fa755	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, @PHENOTYPICFEATURE$, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+d50e97cc6743284a81e3f36664594c1e1cc9afc7	@DISEASE$ siblings in two litters of English springer spaniel puppies showed a progressive neurological impairment, dwarfism, orbital @PHENOTYPICFEATURE$, and dysostosis multiplex.	false
+4eaeeff7ab8b00f39a7307614d4b276030514af3	The aim of this study was to determine whether or not there is an association between attention deficit and @PHENOTYPICFEATURE$ disorder (ADHD) and @DISEASE$.	false
+cb02bc801ca54caac4cb1b8c988dececadaaf993	The BPs are widely used in the clinic to treat various diseases characterized by excessive bone resorption, including osteoporosis, myeloma, bone metastasis, Legg-@DISEASE$, malignant @PHENOTYPICFEATURE$, and other conditions featuring bone fragility.	false
+f231846885fdc30cbed13afe83d5d73db443e047	Association between attention deficit and @PHENOTYPICFEATURE$ disorder and @DISEASE$.	false
+236f630dbab3e57310ec25cebf6baa90b6afbad7	Our findings provide further evidence that patients with @DISEASE$ may have a generalised abnormality related to chondrogenesis which can produce other @PHENOTYPICFEATURE$ that persist into adult life.	false
+1f3eac0eeb30a5877709177eb0fda477513b922b	@PHENOTYPICFEATURE$ and @DISEASE$ related to difficult delivery.	false
+c50f4f5cdd92f3683b047463618f5917e1f7eee5	Nine patients with a previous history of @DISEASE$ had some other @PHENOTYPICFEATURE$, but only three presented with clinical symptoms.	false
+32011f769d84f6bae07a5575c6f3cc48d2333c11	In contrast, patients with soiling reported higher prevalence of IBS, such as IBS-Diarrhea, Mixed-IBS, functional diarrhea, functional constipation, and levator @DISEASE$, and higher Likert scale for diarrhea, bloating, @PHENOTYPICFEATURE$, and softer stools.	false
+e5eefec57fc31125b1d0b6a6684b3fdbd6f7e1cb	Pendred syndrome is often associated with inner @DISEASE$, especially @PHENOTYPICFEATURE$ (EVA).	false
+813882f844ceae570de22a32e081bc1032609d27	Enlarged vestibular aqueduct (EVA) syndrome is a common congenital inner @DISEASE$ characterized by a vestibular aqueduct with a diameter larger than 1.5?mm, mixed or sensorineural hearing loss that ranges from mild to profound, and vestibular disorders that may be present with a range from mild imbalance to episodic objective @PHENOTYPICFEATURE$.	false
+3eb63066fd6da6034c0d0c5d3768ab3e072d6b0a	@PHENOTYPICFEATURE$ (EVA) syndrome is a common congenital inner @DISEASE$ characterized by a vestibular aqueduct with a diameter larger than 1.5?mm, mixed or sensorineural hearing loss that ranges from mild to profound, and vestibular disorders that may be present with a range from mild imbalance to episodic objective vertigo.	false
+92b377cabdfde04b2cc5bbe44b441245ffe77ed2	Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner @DISEASE$, such as @PHENOTYPICFEATURE$ or Mondini deformity).	false
+c073c9b549b602cd2fd6412c3aca992d87ba0f8d	@PHENOTYPICFEATURE$ (EVA) is one of the most common congenital inner @DISEASE$ and accounts for 1-12% of sensorineural deafness in children and adolescents.	false
+d530feaf32ebb527f78ffbb8b9840eb4e51391de	PDS mutations were found only in patients with @PHENOTYPICFEATURE$ and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner @DISEASE$.	false
+ab1bcd4d59f2f0b7672620c05bef675a7aff96b0	Postnatal growth retardation, @PHENOTYPICFEATURE$, spondylocarpal synostosis, cardiac defect, and inner @DISEASE$ (cardiospondylocarpofacial syndrome?)--a	false
+be17f8272532699ba42817a0c7e53532f94846a1	Mutation in DNA repair genes may results in rare genetic disorders, including Xeroderma pigmentosum, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, @PHENOTYPICFEATURE$ teleangiectasia, Werner syndrome, @DISEASE$, Rothmund-Thomson syndrome.	false
+5c51606c11e04a3bae6ed4063f5f864d8e763ab2	A comparative evaluation is reported of pro-oxidant states in 82 patients with @PHENOTYPICFEATURE$ telangectasia (AT), @DISEASE$ (BS), Down syndrome (DS), Fanconi anemia (FA), Werner syndrome (WS), and xeroderma pigmentosum (XP) vs 98 control donors.	false
+75c8be08c66e85b8b880198f5857016527937eab	Mutations in genes with consensus helicase homology have been found in cancer-prone syndromes such as xeroderma pigmentosum and @DISEASE$ as well as Werner's syndrome, in which patients age prematurely, and the X-linked @PHENOTYPICFEATURE$ with alpha-thalassemia syndrome, ATR-X.	false
+02e43082186a5eae33fbcfc8c9367c3305b6421e	@DISEASE$, @PHENOTYPICFEATURE$ teleangiectasia and Nijmegen Breakage syndrome).	false
+b2aa582765cdca1bc432b10db81af2f7112f0612	@DISEASE$ is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, @PHENOTYPICFEATURE$ or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.	false
+f6e5feb0c0bb5a107c99bdadb05958955460a2f4	Among the cell strains that did not show RDS were two from AT obligate heterozygotes (i.e., the parents of AT patients), two from patients with Alzheimer disease, two from patients with Friedreich @PHENOTYPICFEATURE$, one from a patient with @DISEASE$, one from a patient with Down syndrome, and six from patients with various immunodeficiencies.	false
+2915ad065bbc1046df12337056579b938e57897c	Management of @DISEASE$ with oral desmopressin in a patient with @PHENOTYPICFEATURE$ and cleft lip/palate (ECP) syndrome.	false
+7053907cf48ef8443056bfe72d362bb7a907a4fe	In the present case, the underlying diabetes mellitus, urinary incontinence due to @DISEASE$, undernutrition, and @PHENOTYPICFEATURE$ served as the predisposing conditions.	false
+8b3157c8f02dbb997475c3c6fc433d6f2cd0e68d	We present a female infant with facial abnormalities such as bilateral cleft lip and palate, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+96468891157c6917477a3eb763e4c53b0767197a	We present a female infant with @PHENOTYPICFEATURE$ such as bilateral cleft lip and palate, ectrodactyly and @DISEASE$.	false
+9e96ba6dc32575489cfc2dc3c90e9ea48175a449	A 2-year-old girl with alobar holoprosencephaly associated with @PHENOTYPICFEATURE$, @DISEASE$, and a neuronal migration disorder is reported.	false
+a3b2cc3c3c9fdacd3594a3c6534abdfd91b8db11	A boy presented with @PHENOTYPICFEATURE$ (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and @DISEASE$.	false
+cd19439e8d378b4cd792799a22fc9835dda02929	A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and @PHENOTYPICFEATURE$, associated with congenital hypogonadotropic hypogonadism and @DISEASE$.	false
+c010c6c8da69ce9da9c0eab915bcd26367cfebb8	In the review scientific researches on studying biochemical and molecular cellular pathological processes in cybrid cells in various human diseases such as Alzheimer's disease and mild @PHENOTYPICFEATURE$, MERRF and MELAS syndromes, @DISEASE$ and Parkinson's disease were considered.	false
+3347ceec8e5b5284a6f33bbd24ab7e71b3ec1f73	Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to defects in epidermal cornification in lamellar ichthyosis and @DISEASE$, respectively; loss of TG3 crosslinking in hair-cuticle formation leads to uncombable hair syndrome; the predicted loss of TG6 crosslinking leads to spinocerebellar @PHENOTYPICFEATURE$-35; and loss of the structural erythrocyte membrane protein, protein 4.2, leads to hereditary spherocytosis type 5.	false
+172ec14592a957948a9356eab811c87579711c82	Dermatomyositis is an @DISEASE$ that is associated with muscle and @PHENOTYPICFEATURE$.	false
+7edfaa5c1b0db4883cbe653ef3266149deba3f09	Peripheral ulcerative @PHENOTYPICFEATURE$ may be associated with a variety of @DISEASE$.	false
+2c8ae185e0ad2503e90795383d00dfbe3af67ca5	@PHENOTYPICFEATURE$ has been reported in many @DISEASE$.	false
+5c2af01d3bd644e156114e481f443c1ac0d90e50	@DISEASE$ and occasionally malignancies may be associated with ulcerative @PHENOTYPICFEATURE$.	false
+45071bb7c0654373f2df756a9ffbc6e8667d19a4	Infections, folate deficiency, @PHENOTYPICFEATURE$, congenital conditions, drugs or concurrent @DISEASE$ may cause thrombocytopaenia.	false
+95dfefc4c193d8995f7c13fe6d29f559827f751f	[Cormobidity of @PHENOTYPICFEATURE$ and other @DISEASE$.	false
+526bcb9a785c3ad7e4b5046f37a2e7b8bdc19792	@PHENOTYPICFEATURE$ has been reported in various @DISEASE$.	false
+f64e65e360c5aff0432106a66dd3999786c3d865	Immune thrombocytopenic purpura (ITP) is an @DISEASE$ marked by isolated @PHENOTYPICFEATURE$.	false
+e447dccf19b99a3f7bd4918ce77fef06ac73daca	Vogt-Koyanagi-Harada disease (VKH) is an @DISEASE$ causing a bilateral diffuse granulomatous @PHENOTYPICFEATURE$, often with several associated extraocular manifestations.	false
+4b97657422ee8e209228cec5736fbe9a96e20b42	@PHENOTYPICFEATURE$ (SNHL) and vestibular dysfunction have been described in various @DISEASE$ and systemic vasculitides.	false
+1e2d537b3089c6531889dae05345f78104a03626	Sensorineural hearing loss (SNHL) and @PHENOTYPICFEATURE$ have been described in various @DISEASE$ and systemic vasculitides.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2b37e9cd0409e9acdf36d9607799bb39b72916ee	The present cases harboring novel homozygous frameshift mutations in KCNJ10 expand the spectrum of brain abnormalities in @DISEASE$, including mild cerebellar atrophy and intramyelinic @PHENOTYPICFEATURE$, resulting from abnormal function of the Kir4.1 inwardly rectifying potassium channel at the astrocyte endfeet, with disruption of water-ion homeostasis.	false
+6a85b1b6f79bc1566e5cd2cff353903ae8e66422	These defects included @DISEASE$, absent or abnormal lens, persistence of the primary vitreous, Harderian gland @PHENOTYPICFEATURE$ and ectopic pigmented cells, suggesting that migration of neural crest cells might have been perturbed during eye development.	false
+a4bedc29115ec19335a146c80ab8c7e934e55f71	Osteomalacia and @DISEASE$ were seen, resulting from @PHENOTYPICFEATURE$ and steroids.	false
+0dd414dc3261b115d59b47f2bb3f722786447de5	Hypopituitarism is associated with @DISEASE$ and osteopenia especially when @PHENOTYPICFEATURE$ is present.	false
+3e904559961822ad5fa8f2bc8d060e5271f72cea	Hajdu-Cheney syndrome is a rare, autosomal dominant @PHENOTYPICFEATURE$ marked by acro-osteolysis of the distal phalanges and severe @DISEASE$.	false
+f7ca315a08adf53d11630c47ec5f6ca2a32c9b24	@DISEASE$ and @PHENOTYPICFEATURE$ caused by pathogenic variants in SGMS2.	false
+3fdc177bccbb1ec85de9afc9ef4309baaee90a8e	Endocrine complications such as @DISEASE$, vitamin D deficiency, delayed puberty, and @PHENOTYPICFEATURE$ may be present.	false
+17d44ce6af5128c1c958fb878397f2bdc9adbd8e	Endocrine complications such as @DISEASE$, vitamin D deficiency, delayed puberty and @PHENOTYPICFEATURE$ may be present.	false
+fc8c45e1a4996b202eaa92082efe532b1effa974	Does periarticular @DISEASE$ reflect disease activity in early @PHENOTYPICFEATURE$?	false
+76692026e7f73b0040438a65bf2eb44602ab7edd	Common problems affecting wheelchair athletes include autonomic dysreflexia, difficulty with thermoregulation, pressure sores, @PHENOTYPICFEATURE$, premature @DISEASE$, peripheral nerve entrapment syndromes, and upper extremity injuries.	false
+0d6d7688015ceeb01909d18d785f4b3a7b22418e	Berberine has multiple clinical applications, including the treatment of tumors, diabetes, cardiovascular diseases, hyperlipidemia, inflammation, bacterial and viral infections, @PHENOTYPICFEATURE$ injuries, mental diseases, Alzheimer's disease and @DISEASE$.	false
+098bd492f6c8e8e0ef2933d7558637e13edb80f4	Berberine has multiple clinical applications, including the treatment of @PHENOTYPICFEATURE$, diabetes, cardiovascular diseases, hyperlipidemia, inflammation, bacterial and viral infections, cerebral ischemic injuries, mental diseases, Alzheimer's disease and @DISEASE$.	false
+d43cb359de795510b1886a52642a60226e38259b	Diabetes mellitus is known to involve a wide range of musculoskeletal disorders including tendon @PHENOTYPICFEATURE$, tenosynovitis, joint stiffness, and @DISEASE$.	false
+c8a195f05735b5195d2a31d67d16a114ccfb1d75	[Polymyositis with marked paravertebral @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+02b48b40b7f847fad9b659fa112a4ced8f685605	The augmented elimination of salt during ECVE in patients with @DISEASE$ may explain the rarity of ascites and @PHENOTYPICFEATURE$ in this variety of cirrhosis.	false
+7401b911160819c5c279bf80714c739dadea74f2	The Cox regression method and data from 312 Mayo Clinic patients with @DISEASE$ were used to develop a model based on age, total serum bilirubin, serum albumin, prothrombin time, and severity of @PHENOTYPICFEATURE$.	false
+9c0da4ed28dd6eeefda9378fbd38a4da80754685	Severity of @DISEASE$ was characterized by histological stage and the Mayo risk score derived from a Cox regression model that used the following variables: serum bilirubin and serum albumin levels, age, prothrombin time and clinical severity of @PHENOTYPICFEATURE$.	false
+33e57bbfbd55b8e23a15915e204416dc4aecb5d3	We have reported a 58-year-old Japanese female with polymyositis, @DISEASE$ (PBC) and @PHENOTYPICFEATURE$.	false
+659c705feacf863aa077712bc2878db194729601	This augmented elimination of salt during ECVE in patients with @DISEASE$ may explain the rarity of ascites and @PHENOTYPICFEATURE$ in this type of cirrhosis.	false
+bf2189bf37bad922f67abdb7581a3f4e169c4f69	The Cox regression method and comprehensive data from 312 Mayo Clinic patients with @DISEASE$ were used to derive a model based on patient's age, total serum bilirubin and serum albumin concentrations, prothrombin time and severity of @PHENOTYPICFEATURE$.	false
+c59ca2be54f5cb68fe1702597c0a6217e8255d21	We have studied a girl with fibrotic extrinsic eye muscles, @DISEASE$, unusual facial appearance, mild hydrocephaly, and @PHENOTYPICFEATURE$.	false
+8b9c1d462ffcc25c96ca9d262b08619f6d485a68	Mice null for menin, the product of the @DISEASE$ (MEN1) gene, exhibit cranial and @PHENOTYPICFEATURE$ suggesting a role for menin in bone formation.	false
+75c35bdbb7286fb7b8563d957f602c7ead8db0f5	Open-label trials show its efficacy against @PHENOTYPICFEATURE$, especially absence seizures of @DISEASE$ and generalised seizures of juvenile myoclonic epilepsy.	false
+0c61c2acdc6bacc5828bed62c54dfbb47358d425	Open-label trials show its efficacy against generalised seizures, especially absence seizures of @DISEASE$ and @PHENOTYPICFEATURE$ of juvenile myoclonic epilepsy.	false
+5ea36437a6d89f454f894317fc5b251bda610031	@DISEASE$ is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+2225074c16d469f63b3039852a17da7c5ce60658	@DISEASE$ (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+ac795be21e481e3978472717368e2b452cc9829a	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, @DISEASE$, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+8ffef8dfa177eb70356d2d5086b5406d1ca1328f	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, @DISEASE$, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+f8ae5e58f66e62b6fa9fcf1196cf74575a933446	She had @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, delayed motor and mental development, and spastic quadriplegia.	false
+ee4853d31710da6f4714fdc972c552d1e2f31f02	@PHENOTYPICFEATURE$ near @DISEASE$-gestation has long-term effects on fetal brain development.	false
+95ba65f7dca3e9305adab2e12b88ed118cc57b99	@PHENOTYPICFEATURE$ was more severe in @DISEASE$ than in NDLS.	false
+77f441a302286ac4655ef1401aca7bbb6b6a02e6	The child had a short neck, hypertelorism, depressed nasal ridge, epicanthal fold, @DISEASE$-facial hypoplasia, thin upper lip, long philtrum, @PHENOTYPICFEATURE$, postaxial polydactyly, atrial septal defect, hydronephrosis, and sensorineural hearing loss.	false
+fd85ad08a307461ac42875e4b8cad7a63fa60319	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (@DISEASE$, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+237b0cd9ef8b3aa7d4e939d7c753a7e943d7dbef	The present report describes a case of a frontal @DISEASE$ in a 64-year-old woman who presented with @PHENOTYPICFEATURE$.	false
+489a5f13f0dbd8b31f4eaaf4b2caceb68c5e983b	Incontinentia pigmenti or @DISEASE$ is a rare X-linked dominant disorder with characteristic skin, hair, eye, dental and @PHENOTYPICFEATURE$ mostly affecting females.	false
+a9d38b06ddce2bda54a8f6c1629a4df115d672b6	Incontinentia pigmenti or @DISEASE$, is a rare X linked dominant disorder with characteristic skin, hair, eye, dental and @PHENOTYPICFEATURE$ commonly affecting females.	false
+d6001d4020bd6f07707a6cc82af9ab6a2862e39e	@DISEASE$ is a constellation of antibody deficiency, spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$, growth retardation, and retinal dystrophy.	false
+c89c8a89756c9d53bff95da492a8f1f714a3d7a0	@DISEASE$ (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic @PHENOTYPICFEATURE$.	false
+f77a43524e9b41da5b92a3ed419a5175bf010046	Among this class of disorders are Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome, myotonic dystrophy type 1 and @DISEASE$, Friedreich @PHENOTYPICFEATURE$ and C9 related amyotrophic lateral sclerosis and/or frontotemporal dementia, Facioscapulohumeral Muscular Dystrophy and potentially more.	false
+5a8944085152a5f67a1daa47028e65657f968f25	The expansions of long repeating tracts of CTG.CAG, CCTG.CAGG, and GAA.TTC are integral to the etiology of myotonic dystrophy type 1 (DM1), @DISEASE$ (DM2), and Friedreich's @PHENOTYPICFEATURE$ (FRDA).	false
+899eec163a9a18ff5ce78680303eae69b2c73feb	Non-B DNA conformations formed by long repeating tracts of myotonic dystrophy type 1, @DISEASE$, and Friedreich's @PHENOTYPICFEATURE$ genes, not the sequences per se, promote mutagenesis in flanking regions.	false
+4c1c0ce3beabf13eb9b9c99ee6053319c4b2b107	A case of pregnancy, malformation of the foetus--@PHENOTYPICFEATURE$, and @DISEASE$ hepatis is discussed.	false
+ee3839b59341513927f764a5596d1a01070c85ab	@DISEASE$ is a rare @PHENOTYPICFEATURE$ of childhood that can occur with cystic or solid lesions, as a radiological finding with or without respiratory symptoms.	false
+055ba76a9c18f10edf328ccd10bde0829b40eed6	Inflammatory myofibroblastic @PHENOTYPICFEATURE$ (n = 13), carcinoid tumor (n = 6) and @DISEASE$ (n = 6) were the most frequent histological types.	false
+43d1034d87a6dafb91169b85cb75ea7a84d6f043	Congenital pulmonary airway malformation (CPAM) is a rare developmental @PHENOTYPICFEATURE$ that has been associated with the presence of rhabdomyosarcoma, @DISEASE$, and most commonly bronchioalveolar carcinoma (BAC) of the lung.	false
+8f7d826c32a34f1fff8172aa5037dd9092eecb6a	Fetal lung interstitial tumor (FLIT): A proposed newly recognized @PHENOTYPICFEATURE$ of infancy to be differentiated from cystic @DISEASE$ and other developmental pulmonary lesions.	false
+07b8b74b2bf09ccb006990bc539c44578f6c9b8a	Analysis of human lung tissues revealed decreased YY1 expression in children with @DISEASE$ (PPB), a rare pediatric @PHENOTYPICFEATURE$ arising during fetal development and associated with DICER1 mutations.	false
+9bcc3c0e1e7ade6102a785cdcca09042e9b4c62d	Approximately 75% of primary @PHENOTYPICFEATURE$ are malignant, the most frequent of which are adenoma, bronchogenic carcinoma, and @DISEASE$.	false
+05ab11d53c4d5a838011b019336802a80d42dad0	The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary @PHENOTYPICFEATURE$: cystic @DISEASE$ (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma.	false
+eed11f69deb52bb3c9d1550a88233e10b0ba7ff0	@DISEASE$ (PPB) is a rare pediatric @PHENOTYPICFEATURE$ that is often part of an inherited cancer syndrome.	false
+0bdf1ba7cb21fae1d3a99403993923e19d037f89	It has been categorized as a subtype of sarcomatoid carcinoma according to the current World Health Organization Classification of Lung Tumours and is distinct from the more common pediatric @PHENOTYPICFEATURE$ @DISEASE$.	false
+7d6b6a223557bc724a13354f0434f88cd17a7998	Examples of founder mutations have been identified for oculocutaneous @PHENOTYPICFEATURE$, cystic fibrosis, Fanconi anemia, and @DISEASE$.	false
+f274a122c331f1c750f7e4ef4a54b9c3ea228ce8	Case series and literature review of @PHENOTYPICFEATURE$ and their incidence in the @DISEASE$ population.	false
+61c9849f2d9eb00e01d4fd48f5c5f75c10538629	@PHENOTYPICFEATURE$ in adult type 1 @DISEASE$: a 2-year prospective observational study.	false
+0cd0543861dbfb4fa82d636d41a0c69769bf52aa	We report prevalence and incidence data for @PHENOTYPICFEATURE$ and associated conditions from a multinational, prospective, longitudinal, observational cohort study in patients with type 1 @DISEASE$, either untreated or receiving enzyme replacement therapy.	false
+e67348d2190692a023111677dc8eabbd9c60bb5e	We report the presence of antisulfatide antibodies in a patient with type I @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8c7be52540c888dd8655d043406ff3e3bde6146f	Are symptoms of @PHENOTYPICFEATURE$ more prevalent in patients with @DISEASE$?	false
+4e014c509377d9eb28f283ec2878cc4fd7727af2	Charts of 54 consecutive patients with untreated EA, without underlying diagnosis of @DISEASE$, were reviewed, and types of infections, white blood cell (WBC) count, @PHENOTYPICFEATURE$, as well as the glucocorticoid indices [0800 h F, daily urine F excretion (UFC), and daily urine 17-hydroxysteroid/g creatinine excretion (17OHS)], were recorded.	false
+daefbba2ef910f300fd30ed480f8248560b55771	We reviewed mathematical models that have been developed for biological sciences and applied them in the context of @DISEASE$ (SCLC) growth, @PHENOTYPICFEATURE$ heterogeneity, and mechanisms of metastasis.	false
+772b93fa358eda498702b24fc96a498603b0a7f4	This report describes a patient with @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+114b7e32a45e0ee1b13c17472b89c5b08eb97cc7	Postirradiation @PHENOTYPICFEATURE$ selectively potentiates the merocyanine 540-sensitized photoinactivation of @DISEASE$ cells.	false
+fc7b61df552d17af09af7be2c5929b30f5b5d458	Case 2 : on day 7 of G-CSF treatment, a 50-year-old woman with @DISEASE$ developed @PHENOTYPICFEATURE$, and widely disseminated pruritic erythema on her trunk and extremities.	false
+bd3ffbcf76d022b5a06f320fa273cdb0ba35caf8	We report a case of 72 year old female diagnosed with @DISEASE$ started with memory deficits, ataxia, @PHENOTYPICFEATURE$, and hearing loss.	false
+727b23775919d3d1462e2e15f632535ddfb11ee8	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by @PHENOTYPICFEATURE$, seizures, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+b152f570625106e7afd290b6d4a82cb66bc57c5d	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by mental retardation, @PHENOTYPICFEATURE$, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+73d5d7e7d20ec44155326e9b4ed976620f293244	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe @PHENOTYPICFEATURE$ and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+ee0228cb2a0507a27f143f81637e43f6b69c029d	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, @PHENOTYPICFEATURE$ language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+09e4cd04e3637d4c481f61f7e053f62d6175dcf6	However, other inborn @DISEASE$ may present within the first 10 days of life with severe illness, particularly neonatal @PHENOTYPICFEATURE$.	false
+0454e6aad1fb975ad63e938643a6dc9b549fd754	We studied 26 children with inborn @DISEASE$ of urea synthesis who survived neonatal hyperammonemic @PHENOTYPICFEATURE$.	false
+ec95bc979cbbee1c2e5b497d692c643bdc14eda0	Metabolic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1225912dc73303d04e8b1d8e9563ffb35b3671f3	Etiologic factors in @PHENOTYPICFEATURE$; @DISEASE$ of metabolism that may lead to mental deficiency.	false
+a46a5c8d898563a407bee720c30cf57dcc5e3a11	Etiologic factors in mental deficiency; @DISEASE$ of metabolism that may lead to @PHENOTYPICFEATURE$.	false
+1c010e6728147781b09afd8d1b1c928dd9d23d81	Arginine:glycine amidinotransferase deficiency is a treatable inborn @DISEASE$ of creatine synthesis, characterized by @PHENOTYPICFEATURE$, language impairment, and behavioral disorders.	false
+f50caef4bce595ce9e1fd051f864f57003884518	Arginine:glycine amidinotransferase deficiency is a treatable inborn @DISEASE$ of creatine synthesis, characterized by mental retardation, @PHENOTYPICFEATURE$, and behavioral disorders.	false
+9a9083b6f355e55df3249018ac066f7e3ab2c916	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+dc78c3d596eed613fb71855ded6596f398ec87ad	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by @PHENOTYPICFEATURE$, psychomotor retardation and seizures.	false
+5b2b4c2dcb6d5cfdc290b0c5a1abd88df4a0400a	[Diagnostic @DISEASE$ of @PHENOTYPICFEATURE$ of neurometabolic origin confirmed by mass sequential spectrometry].	false
+e0cabebc482b2774d134186fea0626240b810a6c	The Sj?gren-Larsson syndrome (SLS) is an inborn @DISEASE$ of lipid metabolism, characterised clinically by congenital ichthyosis, @PHENOTYPICFEATURE$ and spasticity.	false
+e290a4123a6eddd9f9920df82f7d712ef9ee8e1d	The Sj?gren-Larsson syndrome (SLS) is an inborn @DISEASE$ of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and @PHENOTYPICFEATURE$.	false
+8ed354221c6db979adb61f3699b972065ba005b1	Of the 42 children fathered by these recipients, 3 (7%) were preterm, 1 (2%) had a @PHENOTYPICFEATURE$ and lip that have subsequently been corrected, 1 (2%) died from interruption of umbilical cord circulation at 24 weeks, and 1 (2%) whose father had @DISEASE$ was born with a cardiomyopathy that improved with time.	false
+b517610de70a2db1d9d4759b818e68e994c7c987	@DISEASE$ associated with brainstem @PHENOTYPICFEATURE$.	false
+dce1f628c1c4f0ab443f2a055749fe3f744abb34	Small numbers of the patients suffered from @DISEASE$, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory @PHENOTYPICFEATURE$, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus.	false
+f27c8e24f6c82cd127b1b18e24e6ea4a7027d678	Small numbers of the patients suffered from @DISEASE$, piebaldism, congenital @PHENOTYPICFEATURE$, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus.	false
+dcc86a28d5ce1f38ba0811521bd9d92b2873ec77	@DISEASE$-deficient mice and fasting have several common functional roles in @PHENOTYPICFEATURE$, beta-hydroxybutyrate (BHB) uptake in brain and alteration in counterregulatory hormonal regulation during hypoglycemia.	false
+af10607db66453f374a186987ed34f9ce0a5b133	In this issue of Neuron, Gim?nez-Cassina et al. (2012) show that fuel utilization by neuronal mitochondria, controlled by the Bcl-2 family member @DISEASE$, defines response to @PHENOTYPICFEATURE$.	false
+8ca1697d15ce5f894b13cb2398f0e60a44a118bf	Major depression, bipolar affective disorder (@DISEASE$) and @PHENOTYPICFEATURE$ (MR) are the most common diagnoses among mentally ill shoplifters, while patients with a diagnosis of BAD or MR are at higher risk of committing an offence than patients with other diagnoses.	false
+4ced5b434fb68fc9a27c6ba5350e6f3b11f9649c	Major depression, bipolar affective disorder (BAD) and @PHENOTYPICFEATURE$ (MR) are the most common diagnoses among mentally ill shoplifters, while patients with a diagnosis of @DISEASE$ or MR are at higher risk of committing an offence than patients with other diagnoses.	false
+61def508caf1b27ff655d27050f9866a0afe0392	Four patients with @DISEASE$ subsequently developed @PHENOTYPICFEATURE$ (2.2% of total patients, 4.0% of patients with BAD), whereas no patients with lacunar infarction developed epileptic seizures.	false
+372771eab779e56b1a315c1390e8dc4c199ce657	Four patients with BAD subsequently developed @PHENOTYPICFEATURE$ (2.2% of total patients, 4.0% of patients with @DISEASE$), whereas no patients with lacunar infarction developed epileptic seizures.	false
+a7fdba4a281a2f92e63d00efa288013f77509d78	Four patients with BAD subsequently developed epileptic seizures (2.2% of total patients, 4.0% of patients with @DISEASE$), whereas no patients with lacunar infarction developed @PHENOTYPICFEATURE$.	false
+23fca429af92d05450dd5287487861a121c8f92d	Four patients with @DISEASE$ subsequently developed epileptic seizures (2.2% of total patients, 4.0% of patients with BAD), whereas no patients with lacunar infarction developed @PHENOTYPICFEATURE$.	false
+f686f714d57a6417dd223dc9938f8aa66d4c2403	To evaluate the relationship between late-onset @PHENOTYPICFEATURE$ and non-cortical infarction (namely, lacunar infarction and branch atheromatous disease [@DISEASE$]) in Japanese patients.	false
+4e4c348ad106f7a0cfddc5a7f6879436969760b2	Patients with @DISEASE$, but not with lacunar infarction, might have a higher risk of developing @PHENOTYPICFEATURE$ than the general population.	false
+fc32300654c0e431ff5f46ba720b22fd0ea9db4c	However, the absence of neuroprotective effects of pathway intervention suggests that @DISEASE$ may perform a reinforcement rather than instigator role in cell death following @PHENOTYPICFEATURE$ in vitro.	false
+aaa02e8ba834ccae2c79a2a1543d57439e33ffde	Our patient with @DISEASE$ had primary bilateral bullous keratopathy and bilateral corneal @PHENOTYPICFEATURE$ for 10 years and was eventually rehabilitated by corneal transplant.	false
+396eb506bc603541bee3b34ea40b1b431691ffe4	Among them, the most studied is @DISEASE$, "adult progeria", caused by a recessive autosomal @PHENOTYPICFEATURE$ with a frequency of 1 in 10 million, which affects a helicase involved in DNA repair.	false
+2a93b38116ef8c662a3af258a8a7a175a89a57bc	@DISEASE$ is a rare autosomal recessive disorder characterized by features of premature aging, insulin-dependent diabetes mellitus, osteoporosis, atherosclerosis, @PHENOTYPICFEATURE$, hypertriglyceridemia, scleroderma-like skin changes, and sarcomas.	false
+63d047e0498c07647aa5b4e7d19d0221ae370309	Wolfram syndrome (@DISEASE$) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), central diabetes insipidus (CDI) and deafness (D).	false
+75862a86e3cfdd6044a0edc0f8873e5ddc39d259	Stromal @PHENOTYPICFEATURE$ localized in the graft developed 42 days after ALTK for @DISEASE$ in a 65-year-old man.	false
+92041fcd089882dd0834657e00e1821c105fbea1	Choroideremia (tapeto-@DISEASE$, TCD), an X chromosome-linked disorder of retina and choroid, causes progressive nightblindness and central @PHENOTYPICFEATURE$ in affected males by the third to fourth decade of life.	false
+e2afbc3450bacc758e5858b307c81efc2873912f	Cerebellar ataxia and hypogonadism can also occur associated with a large spectrum of additional clinical manfestations, including mental retardation, sensorineural deafness, @DISEASE$, ectodermal dysplasia and @PHENOTYPICFEATURE$, and polyneuropathy.	false
+c4deaf2954af4bcee264c6d3890d36a2f00fbef5	@DISEASE$ is an important tropical tick-borne haemoprotozoan disease in dogs clinically manifested by anorexia, dehydration, temperature, dullness/depression, diarrhoea/constipation, pale mucosa, hepatomegaly, @PHENOTYPICFEATURE$/nausea, splenomegaly, distended abdomen/ascites, yellow coloured urine, emaciation/weight loss, and occular discharge.	false
+9ea1822bdea0538af3d72e6c1106c396c40f803a	Some of these regions are in close proximity to genes encoding essential proteins for neuronal functions and human neurodegenerative disorders such as epm2a (Lafora disease), serpini1 (@DISEASE$) and il1rpl1 (@PHENOTYPICFEATURE$, X-linked 21).	false
+fa8b677241f3bb35dc6ffd77ea57543f459b6afb	Of 89 patients receiving nightly subcutaneous deferoxamine for transfusion-dependent thalassemia major or @DISEASE$ presented with @PHENOTYPICFEATURE$ or deafness of acute onset or both.	false
+a7bad9d6a7a6d6d7f7016d67dda49d1220dfc0aa	Males outscore females in quality of life, percent of maximum scores, stature, @PHENOTYPICFEATURE$, @DISEASE$, and infection.	false
+fba686cade896fdb7ce73f04466edd2f50269544	A standardized data form was used to direct and record presence or absence of oral signs of @PHENOTYPICFEATURE$, clinically apparent @DISEASE$, and circulating blood counts.	false
+a334b11c41c19c1214411681844b2f702261d41c	To determine possible associations between dental disease and body condition score, @PHENOTYPICFEATURE$, the need for supplemental feeding and prevalence of colic in donkeys of all ages, and to gain a better understanding of the pathogenesis of @DISEASE$ by the determination of associations between different dental disorders.	false
+8bc82cf6c160b63ace0d874b0787b1df34cf2dd0	To determine possible associations between @DISEASE$ and body condition score, @PHENOTYPICFEATURE$, the need for supplemental feeding and prevalence of colic in donkeys of all ages, and to gain a better understanding of the pathogenesis of dental disease by the determination of associations between different dental disorders.	false
+557aca7ca845d9b86e1e8c52d3a67752effbd193	The results showed a high prevalence of problems related to life style such as sexually transmitted diseases, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bbaadf6558b03b15bda53079b09cb512bd232f7c	Most animals with @DISEASE$ present with @PHENOTYPICFEATURE$, reduced food intake/anorexia, and drooling.	false
+477e05d51f046c2c56cd83bd8421b56d598656ef	had previously visited a dental clinic for personal care and 105 (68.6%) had suffered from @DISEASE$, dental @PHENOTYPICFEATURE$, bleeding gums or bad breadth.	false
+22e37e7c66800cf7211e7427e2348b14d0fcc970	Patients with facial @PHENOTYPICFEATURE$, without overt @DISEASE$, are often seen in both medical and dental practice.	false
+2795b7d72fe458f1dea4a4fed8d5e1b86c14306e	Oculo-facio-cardio-@DISEASE$ is a rare X-linked disorder, lethal in males, that comprises @PHENOTYPICFEATURE$, congenital cataracts, congenital heart defect, canine radiculomegaly, and digital anomalies.	false
+b1ab9188ef3c0c6fd1ff6a85773debc42f10ad32	Oculo-facio-cardio-@DISEASE$ is a rare X-linked disorder, lethal in males, that comprises microphthalmia, congenital cataracts, congenital heart defect, canine radiculomegaly, and @PHENOTYPICFEATURE$.	false
+7b6e878d6d8035bfc3b3415b07c594ddbdb09d40	The presence of @DISEASE$ was also significantly associated with @PHENOTYPICFEATURE$, colic, low body condition score and the need for supplemental feeding.	false
+6d99b62eb78b351b597763b90c24916eae2f274b	In addition, she had multiple congenital anomalies including atrial septal defect, cataracts, dental and @PHENOTYPICFEATURE$, a constellation that suggested the diagnosis of oculo-facio-cardio-@DISEASE$, a condition caused by mutations in BCOR.	false
+6bb1112f9dbeb748e8cac2c6a7eb3b45a890f6fd	Their diagnoses: idiopathic genu valgo, 10 cases; @DISEASE$, four; benign @PHENOTYPICFEATURE$ (enchondromatosis and osteochondromatosis), three; hypophosphatemic rickets; three, among others, such as sequelae of septic arthritis of the knee, femoral hypoplasia, and fracture sequels.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+d4680e429e8b17ea95e37b4af18ab9f9d8890868	This is the first case report presenting PJS associated with multiple genital tract @PHENOTYPICFEATURE$ including @DISEASE$ in literature.	false
+ed550d98cc309f501c2950986d63f39ee3c372a1	[A new case of @DISEASE$ with major @PHENOTYPICFEATURE$].	false
+d0c7c8509731e0e02016bd40d985643c7b516e25	A novel GUSB mutation in Brazilian terriers with severe @PHENOTYPICFEATURE$ defines the disease as @DISEASE$.	false
+976fb6324e7f964961d696f959df91a7aeecb0a5	Aristolochic acid, found in the Aristolochia species, causes @DISEASE$ (AAN) and can develop into @PHENOTYPICFEATURE$.	false
+155e19b55fe0738c977fe4d8c64ac62159fecbe3	In contrast, in about 40% of cases, conservative surgery was performed by necessity due to the presence of bilateral @PHENOTYPICFEATURE$, a solitary kidney or renal failure related to @DISEASE$.	false
+88ed56cd0f381b15ab1c6122a2e82371168755bb	In contrast, in about 40% of cases, conservative surgery was performed by necessity due to the presence of bilateral tumours, a solitary kidney or @PHENOTYPICFEATURE$ related to @DISEASE$.	false
+461d8bed65f09501174a18461480827c9a0f7213	Elevated @PHENOTYPICFEATURE$ markers in patients with @DISEASE$.	false
+edb23197f89424bf97e4d3efe22e5b2ccebf2e3f	@DISEASE$ (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression to terminal @PHENOTYPICFEATURE$.	false
+860ec44ead7186bd4bbd731d5f4b0e263fb14157	@DISEASE$ (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal @PHENOTYPICFEATURE$.	false
+09ac1305c4bd9825e860d6d732be43b78eae2794	[@DISEASE$ and @PHENOTYPICFEATURE$ of the excretory system].	false
+edb23197f89424bf97e4d3efe22e5b2ccebf2e3f	@DISEASE$ (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression to terminal @PHENOTYPICFEATURE$.	false
+cc3479d9822f160d998b8e00117290476a856d41	@DISEASE$ (EN) is a chronic tubulointerstitial nephropathy with an early insidious and slow development into terminal @PHENOTYPICFEATURE$.	false
+79f6a5a5af9c8f40605959b38df46c4f3f0d4060	Mycotoxins, @DISEASE$ and urinary tract @PHENOTYPICFEATURE$.	false
+f32d70b977e641d89fd04cb34ac4b3aed13e5bae	Upper urothelial @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+03341ca48e415a187fabd77df165464c669ad365	@DISEASE$ (LVNC) is an increasingly recognized cause of heart failure, @PHENOTYPICFEATURE$, thromboembolism, and sudden cardiac death.	false
+c63ec35668466ec4e6421eff6bef1114ce1f19c2	@DISEASE$ is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and @PHENOTYPICFEATURE$.	false
+ac42b59c7cf4799346a8c43b51e460bed81624e9	Heterozygotes express @DISEASE$ with smaller eyes; homozygotes express marked @PHENOTYPICFEATURE$ with hypoplastic lens.	false
+38160dec64049db7af961cedf43a7ef27f885b46	This change co-segregated with @PHENOTYPICFEATURE$ among affected members of a family with autosomal dominant nuclear @DISEASE$.	false
+46eda268705d43093d2d08860c8430b962d013e5	Mutations of the same codon have previously been described in British families with @DISEASE$, suggesting that modifying factors may determine the type of @PHENOTYPICFEATURE$.	false
+45d5e5722fe46e70f75d2d51220e8fc254c9f2f4	Targeted ablation of connexin50 in mice results in @PHENOTYPICFEATURE$ and zonular @DISEASE$.	false
+4af760f714ff1bf405ef14a2a29bcf4c0c35bd43	Haplotype P was found only in family members who suffered from cataract, and all family members who suffered from cataract had haplotype P. The absolute correlation between the presence of haplotype P and @PHENOTYPICFEATURE$ within this family shows that the gamma-crystallin gene cluster and the locus for the @DISEASE$ are closely linked [logarithm of odds (lod) score of 7.58 at its maximum at phi = 0].	false
+a80e1420ba1d1498cbab7c2d237174d8cab912dc	Haplotype P was found only in family members who suffered from @PHENOTYPICFEATURE$, and all family members who suffered from cataract had haplotype P. The absolute correlation between the presence of haplotype P and cataract within this family shows that the gamma-crystallin gene cluster and the locus for the @DISEASE$ are closely linked [logarithm of odds (lod) score of 7.58 at its maximum at phi = 0].	false
+eaf6f9baf6b24a149604a4d120608bce7d9e54ec	Haplotype P was found only in family members who suffered from cataract, and all family members who suffered from @PHENOTYPICFEATURE$ had haplotype P. The absolute correlation between the presence of haplotype P and cataract within this family shows that the gamma-crystallin gene cluster and the locus for the @DISEASE$ are closely linked [logarithm of odds (lod) score of 7.58 at its maximum at phi = 0].	false
+cd9f9a96437488b30cfd4cdbeb96c09b594f9dd7	[Pagoda-shaped congenital fusiform @PHENOTYPICFEATURE$ and its relation to central @DISEASE$].	false
+f4f9e74080a1fd8fe8044160cb7ab688101b617b	A novel GJA8 mutation is associated with autosomal dominant lamellar @DISEASE$: further evidence for gap junction dysfunction in human @PHENOTYPICFEATURE$.	false
+ca36ff9ae78ee6dd4f06b1bc0bc128758312fbab	Of the 18 patients (5%) who died of cardiovascular causes related to @DISEASE$ had progressive @PHENOTYPICFEATURE$ and only 4 died suddenly.	false
+4d20e25994161667a3a7ca5c1c6e97bf54e38f22	Cytogenetic evidence suggests that the haploinsufficiency of > or =1 gene located in 8p23 behaves as a dominant @PHENOTYPICFEATURE$, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, @DISEASE$, and pulmonary valve stenosis.	false
+69427e406cbac868bf510abc7e2b725c2f21894c	The isolated occurrence of endocardial cushion defect (@DISEASE$) has been suggested to differ from its occurrence within the context of a syndrome, with regard to the nature (complete or partial) of the defect and the associated @PHENOTYPICFEATURE$.	false
+f2457d81794344f144dae2b2ddd8b1e5c34bced0	We present a known case of @DISEASE$, which was referred for secondary hypertension workup and diagnosed with severe, proximal, bilateral @PHENOTYPICFEATURE$.	false
+c2459867f2c074f94e778df15541f4dac213f885	Our case is a peculiar case of @DISEASE$ initially presented with unilateral homonymous superior quadrantanopia due to involvement of the visual apparatus in the mesial temporal lobe which progressed to unilateral ophthalmoplegia and @PHENOTYPICFEATURE$ secondary to involvement of the cavernous sinus.	false
+63f1b8c172c06286814c87d6cb036f5888310f57	@DISEASE$ (MD) may be misdiagnosed as PHM; however, it is said to have a quite different histogenesis from PHM. P57kip2 is the protein product of a paternally imprinted or maternal gene that inhibits cyclin-dependent kinases (CDK), thus serving to inhibit cell proliferation and to suppress @PHENOTYPICFEATURE$ growth.	false
+2521fc99bd93cb86a9aeaeb7a542c06a790916f8	These patients carried mutations associated with @DISEASE$, Mulibrey nanism, KBG syndrome, or IGF1R-associated @PHENOTYPICFEATURE$.	false
+6446f7605b8574dc4152589041e3c48e664a917f	Mutations in BLM, a RecQ gene, cause @DISEASE$ (BS), which is characterized by @PHENOTYPICFEATURE$, cancer predisposition, and sensitivity to sunlight.	false
+436f1b97d7fa7d0e7e510f33cbb94fe153df47b6	@DISEASE$ (BS) is a rare, autosomal recessive genetic disorder characterized by @PHENOTYPICFEATURE$, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age.	false
+d829959b21aeb84571ca8dff623d511fdbfd671e	Characteristic criteria for @DISEASE$ are: consanguinity of the parents; androtropia; low birth weight, @PHENOTYPICFEATURE$ (proportional); and persistent telangiectatic erythema in sun-exposed areas, sometimes with blistering.	false
+cd976a3dc79fa81b100b1a1e0db51e6b8204fcb3	@DISEASE$, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, @PHENOTYPICFEATURE$, an erythematous photosensitive malar rash, and increased cancer predisposition.	false
+d89766503a1887917fa0a482890816e1320abb46	@DISEASE$ (BS) is a recessive human genetic disorder characterized by @PHENOTYPICFEATURE$, immunodeficiency and an elevated risk of malignancy.	false
+a8647ff2be644b35d06bc3aa80a74a3f01a797dc	@DISEASE$ (BS) is a recessive disorder characterized by @PHENOTYPICFEATURE$ and immunodeficiency.	false
+b79c36603856c9e31f63f76a6322df3ed53b0d96	Children with @DISEASE$ are characterized by @PHENOTYPICFEATURE$, microcephaly, special faces, feeding difficulties, and immunodeficiency.	false
+ea42462303ab0685a5bc45a59990336f4a5eefd0	Myofibroblastic @PHENOTYPICFEATURE$ of the lower lip in a patient with @DISEASE$: a case report.	false
+8c52569c609a4bf3c4f93e5a81fe157bf5e617de	Progressive renal failure and @PHENOTYPICFEATURE$ due to retinal hemorrhage after interferon therapy for hepatitis C virus-associated @DISEASE$.	false
+0443d40ac20a9b3fc30c1cc34eaad8e6f014ff90	A man in his late 50s with a history of @DISEASE$ presented with @PHENOTYPICFEATURE$ and mild dyspnoea.	false
+d2f84a56bb919deb5d1a66f151bc25da4ae7808a	@DISEASE$ in a patient with common variable @PHENOTYPICFEATURE$.	false
+8a86b256be6af65d820eb3e071852b63da49ae5c	@DISEASE$ (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early @PHENOTYPICFEATURE$ and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull.	false
+ee9676a670253679a4de8f8cf4d2f0e0ac538bc9	Diagnostic criteria were: severe @DISEASE$ leading to severe visual impairment in early childhood, sensorineural deafness, moderate overall @PHENOTYPICFEATURE$ and normal intelligence.	false
+831de443bb33daea34249d03cac05d2063b88b3c	Alstr?m Syndrome (AS) is a rare ciliopathy characterized by @DISEASE$, sensorineural hearing loss, @PHENOTYPICFEATURE$, type 2 diabetes mellitus and cardiomyopathy.	false
+2545b4139bb7cfb43e940be64b4ef58b5b6fe609	In the majority of subjects RPGR mutations are associated with a typical rod-cone degeneration, but in a small number, @DISEASE$, @PHENOTYPICFEATURE$, and abnormalities in respiratory cilia have been noted.	false
+b9e33d6831cde2793fb6bb9112f44666382964d3	Alstr?m syndrome (ALMS) is a progressive multi-systemic disorder characterized by @DISEASE$, sensorineural hearing loss, childhood @PHENOTYPICFEATURE$, insulin resistance and cardiac, renal, and hepatic dysfunction.	false
+6f1ed538e220e427d0ff9d38d1e00aee233c7ecd	The major features of this syndrome are @DISEASE$, polydactyly, @PHENOTYPICFEATURE$, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness.	false
+b5bc8ad7b5f5c3237de69395775675a784e5a0d5	The patient had underlying @DISEASE$ of the retinas, nystagmus, @PHENOTYPICFEATURE$, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia, compatible with the clinical diagnosis of Alstr?m syndrome.	false
+7787d5927dcbe380c0d7e1db5183feb4047994ca	@DISEASE$ and @PHENOTYPICFEATURE$) suffering from acute illness, understanding the underlying disease and the potential for pancreatitis with hypertriglyceridemia is necessary.	false
+e1dc57eba84b7cebd5b1119e60fcde6cb45e4185	Alstr?m syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including @DISEASE$, neuronal @PHENOTYPICFEATURE$, severe insulin resistance and major organ failure.	false
+1f99b8f9f6ddf345c4fe91b7a8b62c8e8a4b2c95	The syndrome is characterized by @DISEASE$, dilated myocardiopathy, childhood @PHENOTYPICFEATURE$ and sensorineural hearing loss.	false
+c12e011c05dab0198b632e9e50fdfec874458dca	Alstr?m syndrome is an autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, hearing impairment, and diabetes caused by insulin resistance.	false
+2cf7a0464333365f74d8d7ba9a4559d11c166a15	Alstr?m syndrome is an autosomal recessive disorder characterized by @DISEASE$, obesity, @PHENOTYPICFEATURE$, and diabetes caused by insulin resistance.	false
+6bdb6bbe3d2b403b2d29ce343c94c6112616bc74	The ocular conditions related to vasoproliferative @PHENOTYPICFEATURE$ in children include intermediate uveitis, retinitis pigmentosa, ocular toxocariasis, Coats disease, neurofibromatosis, retinal toxoplasmosis, retinopathy of prematurity, @DISEASE$, and other rare conditions.	false
+40cfee68e3f75b4d90ad2a137c0c44dfed97620f	@PHENOTYPICFEATURE$ in amyotrophic @DISEASE$.	false
+3de3c3f916ca5dfb19d1dd2009723997bda00faa	In @DISEASE$, a neurological disorder associated with multisystem degeneration, amyotrophy and @PHENOTYPICFEATURE$ are sometimes conspicuous.	false
+98ac20fa8e952fe208c722a83f1c51ea6dcac00b	Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, @PHENOTYPICFEATURE$, @DISEASE$, cerebral volume loss and epilepsy.	false
+cd405240283918bc07eea87660b47aff781060d1	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), @DISEASE$ (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+cc748e39e141d2477c05cea69df25deed5a9cfc6	@DISEASE$, @PHENOTYPICFEATURE$, and pancreatitis associated with a 9 Mbp deletion on 10p12.	false
+13515562b9a421f8106d5990e655a49ee154bcd4	From these studies we can probably learn more about ((cloudy)) diagnoses such as @DISEASE$, attention deficit hyperactivity disorder and @PHENOTYPICFEATURE$.	false
+8a3614c4d90cc7364514589fc1e85a5b0a1037cc	Microcephaly, @DISEASE$, optic neuropathy, peripheral neuropathy, ataxia, epilepsy, and @PHENOTYPICFEATURE$ were also observed.	false
+3dfbb7358a5191a5705fcf0fb4ed0f5e3f8a20ef	encephalopathy is also frequently associated with @PHENOTYPICFEATURE$, @DISEASE$ and MCD revealing novel phenotypic consequences of channelopathies.	false
+260e2ea964ce5378c61e171e1673f9436b6a9e28	The patients' phenotype includes developmental and epileptic encephalopathy with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital cardiac disease and @DISEASE$.	false
+cd405240283918bc07eea87660b47aff781060d1	Associated neurological conditions included developmental delay (10 patients), attention deficit disorder (four patients), cerebral palsy (four patients), history of intracranial haemorrhage (four patients), periventricular leucomalacia (three patients), seizures (two patients), @DISEASE$ (two patients), hydrocephalus (one patient), history of anoxic brain damage (one patient), history of encephalitis (one patient), and @PHENOTYPICFEATURE$ (one patient).	false
+5796a9364a88ac43fc9adf9ea46f204edf8a6744	Intestinal polyposis associated with @PHENOTYPICFEATURE$ of the mucous membranes and skin; @DISEASE$.	false
+633fde6512261b2fd4ee8d150bfb131d378f8090	It appears that young age, moderate to severe hydrocephalus, transependymal @PHENOTYPICFEATURE$, the presence of cerebral metastases, and tumor pathology (medulloblastoma and @DISEASE$) on presentation predict postresection or persistent hydrocephalus.	false
+d2475f167a3d152f893f42290188eeb7b351176f	Small size, eccentric axial location, minimal enhancement, and absence of @PHENOTYPICFEATURE$ were more frequently observed on images of cavernous angioma compared to those of hemorrhagic @DISEASE$ (p?<?0.01).	false
+7453c2a05ba8320be8d80774993105025fb4ec6c	Autonomic @PHENOTYPICFEATURE$ and d?j? vu in a patient with @DISEASE$ of the orbitofrontal cortex.	false
+7013d0c369081079b119d29b8fd601eac6e19cc5	The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, @PHENOTYPICFEATURE$, cerebellar @DISEASE$, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps.	false
+94b6dcf818d60d22d8f22ccb9e3b1c890c8eaee4	Of 21 personal observations of tumour @PHENOTYPICFEATURE$, in which the diagnosis of the neoplasm was missed at the first investigation in hospital, 9 were oligodendrogliomas, 5 astrocytomas, 3 glioblastomas, 2 spongioblastomas, 1 @DISEASE$ and 1 a metastasis.	false
+9badd1a0ca0a340fb4b76e069e04117e0647c27a	A 5 year-old boy with a cerebellar @DISEASE$ with a peripheral right facial paresis and @PHENOTYPICFEATURE$ is presented.	false
+6d3c72987850a83590e1090f3cbf222660b25477	There was no difference in @PHENOTYPICFEATURE$ outcome between grade II gliomas (astrocytoma grade II, oligodendroglioma grade II, mixed oligo-astrocytoma grade II) and other pathologies (pilocytic astrocytoma, ependymomas, DNET, @DISEASE$ and ganglioglioma).	false
+aae246c6e3ecbd08ff09cfdb14f9f7b2dda2e3cf	Low grade neoplastic lesions (ganglioglioma/@DISEASE$) may present with @PHENOTYPICFEATURE$, and distinction of these lesions from focal cortial dysplasia is difficult on standard radiological imaging.	false
+3a8884c1914986b8fa5976ce815a50129518f571	Although @DISEASE$ is a well-differentiated benign tumor, the almost total replacement of the medulla oblongata by the tumor cells was assumed to result in @PHENOTYPICFEATURE$ via the olivocerebellar tract and secondary cerebellar atrophy, followed by central hypoventilation and death of the patient.	false
+b76751ec9f89a4c3999727d51a42bfeaa7c390ad	@PHENOTYPICFEATURE$ distal renal tubular acidosis associated with @DISEASE$.	false
+a122f78bc4d0f50a1ff35a0d173b7b35cf7b18a0	Major @PHENOTYPICFEATURE$ is a cardinal feature of @DISEASE$.	false
+86e309cb31eab1c8ac4f9b1386d07a1f926edb3f	These neurophysiological findings parallel those reported in 2 other developmental disorders, developmental @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4d72e26f319cbf8135656574786bf82acdeaa7c3	(1) First-line drug treatment of chronic @DISEASE$ or intraocular @PHENOTYPICFEATURE$ is based on monotherapy with timolol eye drops.	false
+944259c445e3a2950e6cd88ca2e774d813ec0d0d	Juvenile-onset @DISEASE$ (JOAG), if left untreated, will lead to severe visual @PHENOTYPICFEATURE$.	false
+890ac58909dc1a325df11c9aac5107d1a50c9c34	Intramedullary epidermoid cysts of the spinal cord are @DISEASE$ tumours, especially those not associated with @PHENOTYPICFEATURE$.	false
+e23ed7b5af45b7214c8864726d7a4711d3f08ab4	Costello syndrome is a @DISEASE$ syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, @PHENOTYPICFEATURE$, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+ff033b9ae2bce4801b0b0379b701fc8cc80850b0	Costello syndrome is a @DISEASE$ syndrome characterized by @PHENOTYPICFEATURE$, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis.	false
+304978ef6d23f2a2d6d2bdecf082c1179f25801c	Four members of a family in three generations are presented who were affected by a @DISEASE$ syndrome (mucosa @PHENOTYPICFEATURE$ syndrome).	false
+733c1498f6cabaffd5feb9d8988cff7dd221ac29	These complications include injection site reactions, @PHENOTYPICFEATURE$, immune-mediated complications such as psoriasis and lupus-like syndrome and @DISEASE$ skin cancers.	false
+2b1fe17f2163d212152a3c359176bbcd35cadaeb	A new type of @DISEASE$ bone dysplasia is described, which shares some common features with spondylo-meta-epiphyseal dysplasia: short @PHENOTYPICFEATURE$ calcification type and lethal metatropic dysplasia.	false
+5b8e5f4dc906f51b70c3402dd0d43be0028017dd	Peters plus syndrome is an autosomal recessive @DISEASE$ disorder comprising @PHENOTYPICFEATURE$, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects.	false
+87aa81b0c6135e5281e9fc332764914882476000	Amlodipine induced side effects are headache, dizziness, @PHENOTYPICFEATURE$, flushing, palpitations, and @DISEASE$ gingival hyperplasia.	false
+c9fd505ae52a9468c20c86fa6f93364e59f4f669	@PHENOTYPICFEATURE$ and chorioretinal dysplasia is a very @DISEASE$ syndrome, characterized by microcephaly, chorioretinal dysplasia, mental retardation, and is phenotypically classified according to the presence of lymphedema.	false
+b2f203935b9792a938fda9aa42d6d818d190b58a	Microcephaly and chorioretinal dysplasia is a very @DISEASE$ syndrome, characterized by @PHENOTYPICFEATURE$, chorioretinal dysplasia, mental retardation, and is phenotypically classified according to the presence of lymphedema.	false
+60c23e6c70869bd1debd0095e9acde1af7bff9ae	Inherited ichthyoses represent a group of @DISEASE$ skin disorders characterized by scaling, @PHENOTYPICFEATURE$ and inconstant erythema, involving most of the tegument.	false
+3707497a9d41017b3a808dd753a220448e6f37ad	Dermatomyositis @DISEASE$ involves myocardial muscle fibers, but has shown to be associated with @PHENOTYPICFEATURE$.	false
+aecb7e593a6e98bfc6b63c8419b8acd3bebf0718	Patients with @DISEASE$ may have aberrant lashes, anterior stromal hypoplasia, and @PHENOTYPICFEATURE$.	false
+608f39884111860e325b610be7be9c54677778b3	We report a boy with @DISEASE$ in whom MRI revealed delayed myelination of the white matter, @PHENOTYPICFEATURE$ and tortuosity of the intracranial vessels.	false
+2ab16a633e3a280d2c01bacebca7d303bada6275	A case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+3c45023eaa0c80558268fd130ef0a09739ad7af1	In children, high urine dopamine was found in cases of neuroblastoma, Costello syndrome, @PHENOTYPICFEATURE$, phaeochromocytoma, @DISEASE$ and rhabdomyosarcoma of the bladder.	false
+cdd5b8c2b6320424b5f15ca3aa87bb06081d22fd	The introduction of oeu-small RNA in hsa-@DISEASE$34a-deficient @PHENOTYPICFEATURE$ cells restores its function, whereas cells with normal expression of endogenous hsa-miR34a remained unaffected.	false
+b60d3c02c95fbfb0ce27473eba24bf59ac5c01af	The serum angiogenic profile in patients with glioblastoma @DISEASE$ @PHENOTYPICFEATURE$ biology and has prognostic value.	false
+d8116a367e989da934d6986f56ae29dd8a9e96a1	Interestingly, transcriptional targets of Egr1 were enriched in both the high-throughput dataset and in a larger set of @DISEASE$-146a-deficient @PHENOTYPICFEATURE$.	false
+24bae936bf3ae77ffb07352a12c984d9cc8008d3	Taken together, CgA is a valuable marker for immunohistochemical diagnosis, but CgA plasma concentration is not suitable to @DISEASE$ @PHENOTYPICFEATURE$ burden or prognosis in patients with NEN of the colon and rectum.	false
+1b9cea18302a1b76d4ae8776755fa3282b81a922	The outcome of fetal SCT can be unpredictable, with some cases with slow growth during fetal life, whereas others grow rapidly, causing multiple complications; also, some of these @PHENOTYPICFEATURE$ will develop triggering fetal (preterm delivery, high-output cardiac failure, hydrops fetalis, intrauterine death) or maternal complications (distocia, placentomegaly, maternal @DISEASE$-preeclampsia).	false
+cc803a19c138ca00a681349fca9265c7ab5cf193	Although rare, upper cervical @DISEASE$-image neurofibromas have been reported in the medical literature, and their surgical management has been addressed in several reports; however, little has been mentioned or is known regarding upper cervical or craniocervical stability following resection of these @PHENOTYPICFEATURE$.	false
+d0e2be120c6d23c5e737024b36c03d5470502798	These results indicate that TS mRNA level in plasma can @DISEASE$ @PHENOTYPICFEATURE$ TS mRNA level, and both of them can be used to predict raltitrexed sensitivity in gastric cancer.	false
+20c9074f2740a38f13f68ad9f393841b3e7aed5c	Oncolytic effect of Proteus @DISEASE$ upon @PHENOTYPICFEATURE$-bearing animals.	false
+67a0f1c7bf31250583f4dbebaf55277f807c2d5c	Oncolytic effect of Proteus @DISEASE$ upon @PHENOTYPICFEATURE$ bearing animal.	false
+6b99e4aa59492443ce98f52e5f84c713daaeed06	Inutero development of such @PHENOTYPICFEATURE$ may be associated with polyhydramnios, fetal hydrops and extreme cases the maternal @DISEASE$.	false
+95419f48a47c878e7795ccb8bf711c36567c8742	@DISEASE$ (RB) is an intraocular childhood tumor which, if left untreated, leads to @PHENOTYPICFEATURE$ and mortality.	false
+038a477b9a6968ccf7e2967589dc635da4a5e288	@PHENOTYPICFEATURE$ in @DISEASE$ survivors: a cross-sectional study of 138 patients.	false
+8e9be33613fc9baf9978f546d8adfd88f49e0698	@DISEASE$ is an uncommon ocular tumor of childhood which accounts for 5% of childhood @PHENOTYPICFEATURE$.	false
+b357fec6116b7870c18bed025f6513e8cd3efd6b	@PHENOTYPICFEATURE$ affects a significant number of @DISEASE$ survivors.	false
+20551fad59a85b1a8d96ee1f9e530622288f6d54	@DISEASE$ @PHENOTYPICFEATURE$ rate in New Zealand and support for the two-hit model.	false
+3a8139eb34ee62f4daa616d7fd07b2a4d81cc353	Primary intraocular primitive neuroectodermal tumor (@DISEASE$) causing unilateral @PHENOTYPICFEATURE$ in a gelding.	false
+a1b638ef02b6c66b6cf12f247bda7183e72aba34	@DISEASE$ gene @PHENOTYPICFEATURE$ was detected in 1 of 21 cases (5%).	false
+bdd243b85492e9a2532db1e97098b185603483d6	@DISEASE$ @PHENOTYPICFEATURE$ predicts poor outcomes in advanced non small cell lung cancer.	false
+a9f1853a09e6e60c46244c80081e728656f2c44b	These recurrence estimates could be considered when counselling couples with @DISEASE$ or diseases with a high de novo @PHENOTYPICFEATURE$ rate.	false
+9dbb3b7f17e2ff79b6c240b551fc61265636eeee	Using chemoreduction, there has been an apparent reduction in the incidence of pinealoblastoma in children with germline @PHENOTYPICFEATURE$ @DISEASE$.	false
+5904491734f44bed9c9a0c9fb0ce9b5415eebd30	We describe a 28-year-old woman with characteristic clinical signs of Com?l-@DISEASE$ (CNS) who showed numerous plane warts on her face and forearms and papillomatous skin @PHENOTYPICFEATURE$ affecting her groins and genitoanal skin.	false
+825ba819a5e441f5b914b8bc24746d61477318b5	PROMIS domain scores were worse in the presence of recent hospitalizations (depression AES 0.33, anxiety @DISEASE$ 0.42, pain interference AES 0.46, fatigue AES 0.50, mobility AES 0.49), @PHENOTYPICFEATURE$ (depression AES 0.50, anxiety AES 0.60, pain interference AES 0.77, mobility AES 0.54) and coexisting medical conditions (social peer-relationships AES 0.66, fatigue AES 0.83, mobility AES 0.60, upper extremity function AES 0.48).	false
+0b5c909546e8978354248f79f9d2fba7a707e8ff	PROMIS domain scores were worse in the presence of recent hospitalizations (depression AES 0.33, anxiety AES 0.42, pain interference AES 0.46, fatigue AES 0.50, mobility AES 0.49), @PHENOTYPICFEATURE$ (depression AES 0.50, anxiety @DISEASE$ 0.60, pain interference AES 0.77, mobility AES 0.54) and coexisting medical conditions (social peer-relationships AES 0.66, fatigue AES 0.83, mobility AES 0.60, upper extremity function AES 0.48).	false
+7644060ac68fc80a6c6b8bf8186b8d473e2deb24	Safety analysis showed well tolerance of combination therapy, even in hypoglycemic and @PHENOTYPICFEATURE$ @DISEASE$.	false
+db223efb31673024b644d0c6bcfe94de4403c4df	Chronic pelvic pain (@DISEASE$) is a lower @PHENOTYPICFEATURE$ lasting at least 6 months, occurring continuously or intermittently and not associated exclusively with menstruation or intercourse.	false
+70a4338c8b6455da6b41e30aabac21a96498f40b	Remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ syndrome associated with @DISEASE$: a case report.	false
+9338404414b131ff84710e8322f3a7935c15d748	There was also an indication of an increased risk of @DISEASE$ associated with @PHENOTYPICFEATURE$ during childhood (RR = 2.3, 95% CI 1.0-5.3).	false
+ad38bcb5b01119bfab6fa6a616e8bdd9635e2fda	Remitting symmetric seronegative synovitis with pitting @PHENOTYPICFEATURE$ (RS3PE) secondary to @DISEASE$.	false
+f790c987ecfc720c7438a5f148fd54dd63ed29e0	This case report will present the manifestations and treatment of @DISEASE$ and review the differential diagnoses of bilateral disk @PHENOTYPICFEATURE$.	false
+1dede3166193d3c7e757b49b4538d40cb2493d3c	Unusual complications included subarachnoid haemorrhage, @PHENOTYPICFEATURE$, portal and superior mesenteric vein thrombosis, and a @DISEASE$.	false
+8446b9f7ba66de1ffd56e2d4e4a51fa412d26540	[Malignant @DISEASE$ presenting with @PHENOTYPICFEATURE$ and conduction defects.	false
+b79255edc108ec7a7cc2a80b48b54f48ef55c67c	We report the case of a 74-year-old man presenting with progressive painless induration and swelling of the glans penis associated with mild preputial @PHENOTYPICFEATURE$ as the initial manifestation of systemic @DISEASE$.	false
+ced05500dd741c6cbeb0c3c38e9095b1c2248060	A 54-year-old female had a BMI of 44 kg/m(2), biliary colic, gastro-eophageal reflux disease, @PHENOTYPICFEATURE$, hyperlipidemia, and diabetes type 2. Her medical history included complete remission of @DISEASE$ and prolactinoma since 1999.	false
+9d4ec2e248c9bb48524e4ad972c7d50a30833476	Optic disk @PHENOTYPICFEATURE$ in a patient with @DISEASE$: is there a metastasis to the brain?	false
+57397a765bed0f6930dc18125e799c0273370c0e	The results of this study strongly suggest that every patient with @DISEASE$ in whom any periorbital or orbital mass, ptosis, proptosis or lid @PHENOTYPICFEATURE$ develops should be suspected of having orbital lymphoma involvement until proven otherwise.	false
+0cf255ec9c1bd6331c493a562c87569a87a18e02	Fifty-eight-year-old Turkish male patient had @DISEASE$, @PHENOTYPICFEATURE$ and temporomandibular joint dysfunction.	false
+3e97dca319e20feeeb9d08accef9ab88217b7a5a	@DISEASE$ (NF1) is an autosomal dominant genetic disorder, frequently associated with @PHENOTYPICFEATURE$.	false
+3611d4c18d7dc11bb7fd00681c1ed3cd7c5683da	Individuals with @DISEASE$ (NF1) frequently exhibit cognitive and motor impairments and characteristics of @PHENOTYPICFEATURE$.	false
+e5279339b22828e34e278064f7ced551a744aea0	@PHENOTYPICFEATURE$ and other psychiatric comorbidity in @DISEASE$: evidence from a population-based study.	false
+984b7e7b168c482fa7cd5628f7a74a895e8158f3	Hypercalcemic @PHENOTYPICFEATURE$ and hypophosphatemic osteomalacia complicating @DISEASE$.	false
+1a02b820e4a3bdc951e8c4968b9be32b11b24c84	All pediatricians expressed more comfort providing care for a child with @PHENOTYPICFEATURE$ than @DISEASE$.	false
+57d58140e62ff435ecd1a92fca60fd654d7c5ea8	Randomised controlled trial of simvastatin treatment for @PHENOTYPICFEATURE$ in young children with @DISEASE$ (SANTA).	false
+df928adc942a32748622a26cfdcdf542562155d1	There are some reports of patients with @DISEASE$ with a parathyroid adenoma and @PHENOTYPICFEATURE$.	false
+2d1ed906a39fcc358088938ecdcc8277e6ee8b95	Children with @DISEASE$ (NF1) are prone to learning and @PHENOTYPICFEATURE$, including problems with spatial learning and attention.	false
+69afb3fcae47531bf4c0c47c5ffbb2fa3543e29b	Brief report: the association of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7f9e966faa49a4acdf35f6dca74f9bc6d9f9ad7d	Mild @DISEASE$ @PHENOTYPICFEATURE$ is seen in WD carriers.	false
+746f520927ed865437f3b8713c914ea11b757e84	Acute and bilateral @PHENOTYPICFEATURE$ due to optic neuropathy associated with @DISEASE$ deficiency.	false
+32c2e04d9c28c24f92ebd3a13bc1bf524d75e8ce	Furthermore, on the basis of literatures published, relationship between copper-binding metallothioneins and mechanisms for the absorption and excretion of copper or hereditary @DISEASE$ metabolic disorders @PHENOTYPICFEATURE$ symptom are explained.	false
+200a940ae02f79be3f63c4be414960fb75dec80a	We conclude that 1) hypocupremia does not occur within the first month of TPN; 2) its incidence is about 16% in patients intravenously fed for period longer than 2 wk; 3) it is more frequent in patients with enterocutaneous fistulas, whereas it never occurs in patients with cancer @PHENOTYPICFEATURE$, and 4) it is not necessarily associated to a clinicometabolic syndrome of @DISEASE$ deficiency.	false
+3473ff57f5292c03a50ed5474b075fd93d971744	[Occurrence of @DISEASE$ @PHENOTYPICFEATURE$ in the families of four individuals with newly diagnosed Wilson's disease].	false
+30a2e1f45311c545d28d5b1e058bbb15ecf8a01b	Based on the @DISEASE$ @PHENOTYPICFEATURE$ and clinical manifestation, we diagnosed Wilson's disease (Ferenci score, 6 pts) and started treatment with d-penicillamine.	false
+6b96318de98c1938307c3f05c9bcdc1eaa94fa0c	Neuronal cell death in the brain of macular mutant mouse, a model of @DISEASE$ @PHENOTYPICFEATURE$, has features of both apoptosis and necrosis.	false
+1687985524000b5ddc548b902c8995f2e2223243	The @DISEASE$ deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and @PHENOTYPICFEATURE$.	false
+be63652c572450e672bdada0108b85b09dbfdc89	Thirteen patients were identified to have @DISEASE$ deficiency suggesting a prevalence of copper deficiency of 9.6%, and the majority of these had concomitant complications including anemia, leukopenia and various neuro-@PHENOTYPICFEATURE$.	false
+fe09c79c48653279b8680537eef1c3509728c40f	Thirteen patients were identified to have copper deficiency suggesting a prevalence of @DISEASE$ deficiency of 9.6%, and the majority of these had concomitant complications including anemia, leukopenia and various neuro-@PHENOTYPICFEATURE$.	false
+cbfbba208e4cc5b18aec5d06c59d545d3ffc430e	Tender @PHENOTYPICFEATURE$ nodules and plaques developed on the abdomen and legs of two women, 45 and 48 years of age, with hyperparathyroidism as a result of chronic renal failure caused by @DISEASE$.	false
+dafc2b52126739dd1f558e3e827468518b8aa4a5	Case reports of three headache patients, two with intracerebral meningioma and one with @PHENOTYPICFEATURE$ are presented, in whom the clinical picture fulfilled the criteria of the International Headache Society (@DISEASE$) for the diagnosis of migraine.	false
+4b2bcc9c39e42f05b1909b5f51fd0238d34d831a	Costs (2007 values) were calculated from the perspective of the Italian Health Service (@DISEASE$) and included costs for drugs and @PHENOTYPICFEATURE$ hospitalizations.	false
+c03ceee848fac23ef01ed532faf64b2e1a689656	These vessels, in part of the @DISEASE$ patients, establish an important arteriovenous shunt leading to high output, congestive @PHENOTYPICFEATURE$.	false
+1d957ecf1b719fd066817aecfb57347146e87b1e	Atopic dermatitis, @PHENOTYPICFEATURE$, skeletal malformations, @DISEASE$, hypereosinophilia and recurrent infections: a case report.	false
+80859dc614cbc0aebdb5f769edc0f412ac0eadd4	A 2-year-old Omani child with hyperimmunoglobulin E syndrome (@DISEASE$) had a 5-week illness characterized by @PHENOTYPICFEATURE$, heart failure and acute mitral regurgitation.	false
+4cc5ae5ba0c9b12107168f02b92ab2ac18f71542	A 2-year-old Omani child with @DISEASE$ (HIES) had a 5-week illness characterized by @PHENOTYPICFEATURE$, heart failure and acute mitral regurgitation.	false
+cd5193de8677f2f1c7070226af3e61681ff3ba55	Conditions such as sinusitis, asthma, and @DISEASE$, and @PHENOTYPICFEATURE$, eg, elevated IgE levels, eosinophilia, and possible Th1-Th2 imbalances, suggest a predilection for atopic disorders in these patients.	false
+a1ed88bf3b3f5120a300b42d59232ebddb5d8563	A boy presenting the @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+9bbe78d6f54a11c9a53168b0157fb342ce3c585b	We found that eight out of fifteen unrelated non-familial @DISEASE$ patients had heterozygous STAT3 mutations, but their parents and siblings did not have the mutant STAT3 alleles, suggesting that these were de novo @PHENOTYPICFEATURE$.	false
+fe62e4859bf2b95f268835bceac8b6e31634d0c1	Early @PHENOTYPICFEATURE$ (0-6 hours of life) was associated with severe @DISEASE$, and thereby; adverse outcome.	false
+037c6c96cc5acaf7b6a7df1ac28707736174936c	deletion syndrome, when associated with more common features like developmental delay, @PHENOTYPICFEATURE$, speech disturbance and @DISEASE$ in males.	false
+5de44587cf2817791c1809dd60f5d4788840f27f	Conventional two-dimensional ultrasonography revealed a diaphragmatic hernia, nuchal @PHENOTYPICFEATURE$, and suspected @DISEASE$.	false
+48eea5da065216f4bad0762164a8b731e1bca1f2	We found no significantly increased risks after ICSI for any of the categories cardiovascular defects, musculoskeletal defects, @DISEASE$, @PHENOTYPICFEATURE$, or oral clefts.	false
+997c7aff7dfd6fc2149a83ebbd0ce5a72575f47c	Major manifestations of this multiple congenital anomaly syndrome include hypertelorism, prominent forehead, cleft lip and palate, narrow palpebral fissures with @PHENOTYPICFEATURE$, dysphagia, stridor, laryngotracheal oesophageal clefts, and @DISEASE$.	false
+80f810e512cbaf193107edf89ecedef4822c65f4	A 23-day-old infant with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4e9990f6cfa718b4c903a6abaaa63ea72e1327a3	A male infant with hypertelorism and @DISEASE$ was found to have skeletal changes suggesting @PHENOTYPICFEATURE$.	false
+245561fca8632f1eddf1e58001399de7a997825f	The signals from the literature (congenital heart defects, oral clefts, @PHENOTYPICFEATURE$ and @DISEASE$) were not confirmed.	false
+c455b12be6bd48eae60096e88a94d8bac12b7f5d	Preeclampsia was associated with increased rates of fetal malformations when compared to normotensive women - specifically @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ca27a83e11a687b8e358c7778d23e060d3cd4c6c	Patient 4 was a newborn boy with severe genital malformation (penoscrotal transposition and @DISEASE$) and @PHENOTYPICFEATURE$.	false
+1c1e25716375262b06e49a7e6d2ebacc79243158	Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset @PHENOTYPICFEATURE$ and @DISEASE$.	false
+324a2ade2472e326250384c9a20dd60d3b0a8fdc	Our study suggests that subclinical interstitial @PHENOTYPICFEATURE$ may be a frequent occurrence in children and adolescents with severe @DISEASE$ and may very well be present prior to treatment.	false
+abb2bf2065bda9e2fc8bcc78dea5aaf80aedbbbe	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: @DISEASE$; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7a2ca05df6fddbd59c7f19a54cd0b63739b7dffb	Although there are currently 62 mutants of Cx43 (connexin43) that can cause ODDD (@DISEASE$), only two mutants have also been reported to cause palmar @PHENOTYPICFEATURE$.	false
+69a743e49326e91c0a2bce890a02c4d34b8e9089	Having explained the digital findings and @PHENOTYPICFEATURE$, the skeletal changes were thought to fit best @DISEASE$ (SEDC MIM #183900), a type II collagen disorder.	false
+f19f7b352c54bdfd772fec17388e59a420eed0bc	Cocaine has been involved in @PHENOTYPICFEATURE$, headaches, ischemic strokes, intracerebral hemorrhage, cerebral @DISEASE$ vasculitis, palpable purpura and Henoch-Sch?nlein vasculitis.	false
+ee9e59194f7c9f26c7fe8895184bb3f5e956f0b3	[The @DISEASE$ with cerebral @PHENOTYPICFEATURE$ and terminal kidney failure].	false
+5c3b897d4d5e7d8036e1acb155ac9cd8d94fb705	Retinal @PHENOTYPICFEATURE$ are rare in patients with @DISEASE$.	false
+46d2ac060fb15cd505f69fbe7a37ae44b2c7d916	A 22-year old @PHENOTYPICFEATURE$ female patient with @DISEASE$ occurring in the tongue is presented here.	false
+30c56e513eb5f02ce0224c576522f961b8a0b4c5	Bilateral @PHENOTYPICFEATURE$ due to abdominal @DISEASE$ can be a rare urologic complication of Gardner syndrome.	false
+6dbb287ee32e866890ad42f25b08bde18f973426	Recurrent @DISEASE$ developed in her pelvis and retroperitoneum that led to right @PHENOTYPICFEATURE$, necessitating a nephrostomy tube.	false
+b5094892f24d9beddd58351a517c9ede70d8bea0	Genetic epidemiology of birth defects: @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6223cce344e0b94ae099e5cb56832b048f2bbd86	Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, @PHENOTYPICFEATURE$, and @DISEASE$ with or without palate.	false
+d20217fb3591beb7d9aa98dc6edd379db63f2699	[A new syndrome dyscephalia with bird-head and dental abnormalities, nanism, @DISEASE$, cutaneous atrophy, @PHENOTYPICFEATURE$ and congenital cataract].	false
+259eb065696c9167784d84f27dda76c11770e102	This case shows that a CDH3 mutation besides macula dystrophy can cause widespread cone-rod dystrophy with @DISEASE$ without any other pathology besides @PHENOTYPICFEATURE$.	false
+d11e11ff292ccbadcdf82160e98552046e9ca9ca	It is characterized by palmoplantar keratoderma, eyelid apocrine hydrocystomas, hypodontia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5719e8bb89aaaa715a8c5d441cdd1698c1450a82	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), microphthalmia, @PHENOTYPICFEATURE$, micrognathia, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+8834d338dd0a0045f2d8c97e5cdd58034808a06f	The Hallermann-Streiff syndrome is characterized by dyscephaly (bird like facies), @PHENOTYPICFEATURE$, cataracts, micrognathia, beaked nose, abnormal dentition, @DISEASE$, cutaneous atrophy and proportional small stature.	false
+bbe97414a37cb0237f2875fea2e64775844d1707	The disease is characterized by hypodontia, @DISEASE$, palmoplantar keratoderma, @PHENOTYPICFEATURE$ and eyelid hydrocystomas.	false
+c6198cb6f5b53f80a440fdac6190c56202f039f9	The clinical features of the affected individuals included large prominent ear pinnae, tooth enamel hypoplasia, @PHENOTYPICFEATURE$, bilateral partial cutaneous syndactyly, @DISEASE$, palmoplantar keratoderma and hyperhidrosis.	false
+9c641873b46a30a2cf67f04758843ff0656478ba	Hallermann-Streiff syndrome is a rare clinical entity with unknown etiology characterized by a birdlike face, @PHENOTYPICFEATURE$, a beaked nose, @DISEASE$, and proportional small stature.	false
+aa25c046951a9b844ecd1ed2cd87039071aec31c	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$, beaked nose, micrognathia, and proportionate short stature.	false
+d614b36a38de7c81ad7a69bc5f5fdbfab9963c16	The Hallermann-Streiff syndrome is characterized by dyscephaly, @DISEASE$, @PHENOTYPICFEATURE$, cataracts, beaked nose, micrognathia, and proportionate short stature.	false
+45a02acf2d8eb7d08e50886706eeb730bd973f54	Less common features include @DISEASE$, intracranial calcifications, and @PHENOTYPICFEATURE$ secondary to recurrent otitis media.	false
+447a9786151ecd709223bf2c217f38bbee2fb9b9	[A new syndrome: cranial abnormalities with bird-like head & dental abnormalities, nanism, @DISEASE$, cutaneous atrophy, @PHENOTYPICFEATURE$ & congenital cataract].	false
+34b5bee5014d23c5be44ceee8daa64ee9437c47a	We present a 5?-year-old patient with normal growth, borderline normal IQ, borderline hypertelorism, and @PHENOTYPICFEATURE$ who was found to have a submicroscopic 2.3?Mb terminal duplication involving the two proposed @DISEASE$ (WHS) critical regions at chromosome 4p16.3.	false
+8a232c7e2c862ad45fbeddb21a1b0081df5df601	Duplication of the @DISEASE$ critical region causes @PHENOTYPICFEATURE$.	false
+70fbcbf5ff9ab2eb1856956096c5af9bfa1185e1	@DISEASE$ (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, @PHENOTYPICFEATURE$, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures.	false
+49a8d0845bed35d4ceb06380ea10d3c5537bc146	@DISEASE$ is an uncommon chromosomal disorder caused by loss of material from the distal aspect of the short arm of chromosome 4. Its characteristic features include profound growth retardation with psychomotor delay, severe mental deficiency, facial dysmorphia, midline defects and @PHENOTYPICFEATURE$.	false
+c12815a86b6ca43869dfb3fbf3c97c03a64555c5	Severe @PHENOTYPICFEATURE$ with radial aplasia and hypodactylia are reported in a male newborn with @DISEASE$.	false
+f14b2265786507fc284cdf7f053571545b157a65	Mutations in ATP1A2 gene can result in @DISEASE$ (FHM2), while mutations in the ATP1A3 gene can cause Rapid-onset dystonia-Parkinsonism (RDP) and alternating hemiplegia of childhood (AHC), as well as the cerebellar ataxia, areflexia, pescavus, optic atrophy and @PHENOTYPICFEATURE$ (CAPOS) syndrome.	false
+f956fe3fe9411bdb5e4e317e2cd8d6610414b0d6	@DISEASE$, @PHENOTYPICFEATURE$, deafness, and nystagmus.	false
+d204b089febea7adcfb72186c2ab8475ae0e7cf4	@DISEASE$ (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive @PHENOTYPICFEATURE$.	false
+39665f4ac33aa1fad242cac50ca685ea8834af6a	JH is characterised by @DISEASE$, @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+36be4880196ebef0ea834632519cebb990f4abda	She presented to us with hypotension, @PHENOTYPICFEATURE$, hypomagnesemia with alkalosis, hypothyroidism, hypocortisolism, and @DISEASE$.	false
+940695758b52b78fe11da0c446150a784f2bcc19	This mutation causes a distinct multisystem disorder that includes subcutaneous lipodystrophy, @PHENOTYPICFEATURE$, mandibular hypoplasia and @DISEASE$ in males.	false
+88d555f397883ec454f5958570ae88948055e063	This mutation causes a distinct multisystem disorder that includes subcutaneous lipodystrophy, deafness, @PHENOTYPICFEATURE$ and @DISEASE$ in males.	false
+d5b6854e72564d96a5497987f27abe3c72d1637b	A familial syndrome of @PHENOTYPICFEATURE$, alopecia, and @DISEASE$.	false
+d1bde5f62f4add7fde563b2534f0a233ca05d557	Major endocrine manifestations at diagnosis included hypothyroidism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6580803dce06ea4105eb2b9f5b461a3ff0acf005	A novel syndrome of mandibular hypoplasia, @PHENOTYPICFEATURE$, and progeroid features associated with lipodystrophy, undescended testes, and male @DISEASE$.	false
+dbbff8e7dcb958b4a5af9ca533abeb011ee6d575	A novel syndrome of @PHENOTYPICFEATURE$, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male @DISEASE$.	false
+1eeebb2527adf16c662e17205e0be6873723f7b9	Craniopharyngiomas in children are usually associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cf6b9943e72c23659efbcea912c769f813fefb40	He had @DISEASE$ and a central postsynaptic @PHENOTYPICFEATURE$.	false
+90cd5e7712e69cb00e45c15c38c9d24cb951a247	@PHENOTYPICFEATURE$ and @DISEASE$: a new X-linked recessive disorder.	false
+623d750dba638f8940b00f296c95843ab0ed05a9	Zinc deficiency has been known to cause @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c1250910c0c8638238f5c850ddba3fd0afd4ce3f	Rhabdomyolysis-induced acute kidney injury (@DISEASE$) is characterized by hyperphosphataemia and @PHENOTYPICFEATURE$.	false
+9616849a29ae77dd90178cdaf70b8d1beef81781	Electrolyte and mineral disturbances are common, and @PHENOTYPICFEATURE$ may predict poor prognosis in septic @DISEASE$ patients undergoing CRRT.	false
+d9870e2c6ab90bd3068405c4d555e89238192a80	The major causes for perioperative @DISEASE$ are severe sepsis and septic shock, hypovolemia, bleeding and @PHENOTYPICFEATURE$.	false
+a4217a78b7f0902ff947dc79a64480b40aae03e1	It was more common in @DISEASE$ patients compared to no AKI patients to be diagnosed with @PHENOTYPICFEATURE$, RR 3.03 (CI: 2.15-4.26)	false
+b71ebeba8cc04c4b6e91836aac120ff74edf370a	It was more common in AKI patients compared to no @DISEASE$ patients to be diagnosed with @PHENOTYPICFEATURE$, RR 3.03 (CI: 2.15-4.26)	false
+9df90deef86c561d0a9e4f8b441f08995cddfe32	In patients with heart failure, 26% developed @DISEASE$ compared with 14% in patients without @PHENOTYPICFEATURE$.	false
+caa009af7e39dfd42363392fea017f12a7632810	In patients with @PHENOTYPICFEATURE$, 26% developed @DISEASE$ compared with 14% in patients without heart failure.	false
+e60df94359920ddd7ca504cf1e43183232f90285	Acute kidney injury (@DISEASE$) is a serious complication of @PHENOTYPICFEATURE$ (HF).	false
+0b8832c005e726ca01f3a627d015f97b612ccfc9	Acute @PHENOTYPICFEATURE$ (HF) and acute kidney injury (@DISEASE$) are common.	false
+aeb1b35cb42f3cf477b8ee7719438e3999374c27	@PHENOTYPICFEATURE$ and prior @DISEASE$ were also associated with increased rates of AKI.?.	false
+022aca8f2db3e55242306283fbf829ca5440c214	Acute kidney injury (@DISEASE$) is associated with electrolyte and acid-base disturbances such as hyperkalemia, metabolic acidosis, hypocalcemia and @PHENOTYPICFEATURE$.	false
+6f838c5b5bd8f2461d709f856be4989c969a28a6	Acute kidney injury (@DISEASE$) is associated with electrolyte and acid-base disturbances such as hyperkalemia, metabolic acidosis, @PHENOTYPICFEATURE$ and hyperphosphatemia.	false
+bd12babc38ab59bc00a87896a507e4182fc6e96d	Ejection fraction, BMI, acute myocardial infarction, type of surgery, and @PHENOTYPICFEATURE$ were not absolutely associated with @DISEASE$.	false
+108116dde5876c47bccdf167036eca92dedc618e	Mutations in STAT3 cause @DISEASE$ (Job's syndrome), which is unique in its diversity of connective tissue, skeletal, and @PHENOTYPICFEATURE$.	false
+52fb8ff2c27a2294130f3b61ddadacb0830b7821	@DISEASE$ (AD-HIES) is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and various connective tissue, skeletal, and @PHENOTYPICFEATURE$.	false
+bb9a73c822a5fc9cc6161cb59ec605d588eddd57	Autosomal dominant Hyper-IgE syndrome (@DISEASE$) is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and various connective tissue, skeletal, and @PHENOTYPICFEATURE$.	false
+ae64aadb7a746bba85f9181227359486cdb4dbde	@PHENOTYPICFEATURE$ are highly prevalent in patients with @DISEASE$.	false
+784791fa15ca97503b5bec62052c37fe501b2f43	@DISEASE$ or Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent soft tissue infections, coarse face, skeletal and @PHENOTYPICFEATURE$, and markedly high levels of Immunoglobulin E. Eczema that resembles atopic dermatitis but is refractory to traditional treatment and severe and recurrent bacterial pneumonias often recognized during childhood.	false
+f2715ea03df764abe18103da52cb1267aa2e05a4	Job's syndrome or @DISEASE$ (HIES) is a rare primary immunodeficiency characterized by recurrent soft tissue infections, coarse face, skeletal and @PHENOTYPICFEATURE$, and markedly high levels of Immunoglobulin E. Eczema that resembles atopic dermatitis but is refractory to traditional treatment and severe and recurrent bacterial pneumonias often recognized during childhood.	false
+1338fbf0621467c8c396afe0dd53a64ca57b3065	@DISEASE$ (HIES) is characterized by recurrent skin and lung infections, eczema, elevated serum immunoglobulin E (IgE) levels (>2000 IU/mL), various connective tissue, skeletal, and @PHENOTYPICFEATURE$.(1)	false
+6e8571b394fbccf093d1ff32d5cff65d9e27b407	This 5-month-old tiger, presenting with @PHENOTYPICFEATURE$, showed bilateral residual pupillary membranes and anterior @DISEASE$ cataracts combined with nuclear cataracts.	false
+70357aa03b9b8d5e05bb3247f46a6f66f1721d1b	Acute renal failure, gastrointestinal bleeding, and @PHENOTYPICFEATURE$ after administration of arsenic trioxide for @DISEASE$.	false
+554b746c684f7ab6e41b156d37af218c0c36d12a	The case of a patient who developed acute renal failure, gastrointestinal bleeding, and @PHENOTYPICFEATURE$ after receiving arsenic trioxide for the treatment of @DISEASE$ (APL) is described.	false
+0a9113408b8a28d128616745e20f007d3c9467f4	The compound has been reported to attenuate promotion of skin carcinogenesis and TPA-induced ear @PHENOTYPICFEATURE$ in female ICR mice, and to induce apoptosis in cultured human @DISEASE$ (HL-60) cells.	false
+576d976f557b0ea20a1878a77f3388cc892a3620	A large infiltrating @DISEASE$ in a dog, which had been refractory before surgical excision, was controlled 2 months after completion of a combined radiotherapy and @PHENOTYPICFEATURE$ regimen.	false
+1951d984b77c4b78fc7cdd79589c086bc1454a5b	@DISEASE$: an association with @PHENOTYPICFEATURE$.	false
+13cd880e1e4b43cb1c570e5fa6e03dc6b6d8d826	Benign hereditary @DISEASE$ is a rare disorder which is characterized by early onset, non-progressive @PHENOTYPICFEATURE$ disturbance, with other hyperkinetic movements and unsteadiness also commonly seen.	false
+df3e466e42ae2a2d1ca93252e659a3a170f5ba37	We performed a prospective study of 44 SAH patients with acute focal neurological deficits (@DISEASE$) occurring acutely with SAH (due to ICH) or directly after surgery (due to clip stenosis, thromboembolism, or early @PHENOTYPICFEATURE$).	false
+a7cfdb884d7b4cdc170de035e56114880cc14e73	Radiographs revealed generalized @PHENOTYPICFEATURE$, including wide bones and cortical and trabecular bone thickening in keeping with @DISEASE$, except that long bone ends were also affected.	false
+be96f888f3e06bdd09fd0016b9243db7adfa2884	Cranioectodermal dysplasia (@DISEASE$), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, @PHENOTYPICFEATURE$, and ectodermal features.	false
+468640cb8e732bf289aaa8985da06e0449d52a00	Sensenbrenner syndrome/cranioectodermal dysplasia (@DISEASE$) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and @PHENOTYPICFEATURE$.	false
+993215a0ec1fe495f51f094d7d2a343405f84181	We have applied real time convection-enhanced delivery (@DISEASE$) of therapeutic agents with iMRI across a number of different clinical trials settings in neuro-oncology and @PHENOTYPICFEATURE$.	false
+db93b946e0e8c5e4facfb55329ed81ce5c9726c9	Cranioectodermal dysplasia (@DISEASE$) is an infrequently described autosomal recessive disorder characterized by craniofacial, ectodermal and @PHENOTYPICFEATURE$, and associated with increased risk of chronic renal failure.	false
+1cd31b4ffa3d17c3c76cfcb36702113e30a618d0	Three dominant mutations in the YARS gene, encoding tyrosyl-tRNA synthetase (TyrRS), have so far been associated with DI-CMT type C. The molecular mechanisms through which mutations in YARS lead to @PHENOTYPICFEATURE$ are currently unknown, and animal models for @DISEASE$ are not yet available.	false
+0ba69502d1167c539ca47115e889d9dc1c56a3bd	@DISEASE$ is a genetic condition associated with dysmorphic facies, @PHENOTYPICFEATURE$, short stature, developmental delay, and intellectual disability.	false
+723a91427a723e85bf6f5e02e4756e386dcd8a29	mutations cause @DISEASE$, a very rare genetic disorder characterized by congenital @PHENOTYPICFEATURE$, short stature, intellectual disability, and distinct facial features.	false
+049cd0d1912b049f371fbf8e9091dcd7b85f1dfe	There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, @PHENOTYPICFEATURE$, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, @DISEASE$, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+64524897a7481b7616db8d07162b3ffa9ab256c9	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or telecanthus, micrognathia, hypoplastic mandible, and low-set ears.	false
+aaf4e442d884d951b21227805c8017d7be9c165e	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+6cd234df31ed2962899910995344f77589a2210b	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+36482b41d2afd87ba888ae2cc312e92b68087cb1	@PHENOTYPICFEATURE$ (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and @DISEASE$ syndromes.	false
+5b252fae0f28561798a4f238bd593a114e2cb873	Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive @PHENOTYPICFEATURE$ are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+63de8fd5b629fd43f1f2d07c16ddaa0cb96b0c7b	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+7785944de55ee678d769c49aa2cc4308eec940cb	Raised CSF FDP level was observed in exacerbations of multiple sclerosis, strokes especially of embolic origin, syringomyelia, bulbar form of amyotrophic lateral sclerosis, epilepsy, migraine, lumbar disc lesions, polyneuropathy, parkinsonism, @PHENOTYPICFEATURE$, after craniocerebral trauma, in @DISEASE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+041426547ea55c034852776feae7a093432b09ab	Patients with @DISEASE$-like @PHENOTYPICFEATURE$ associated with oncocytosis are at great risk of developing renal failure as the proliferating lesions replace the renal parenchyma.	false
+100ec283891dc04ab1a135da7b823ab294583579	Patients with @DISEASE$-like tumours associated with oncocytosis are at great risk of developing @PHENOTYPICFEATURE$ as the proliferating lesions replace the renal parenchyma.	false
+4592d0f397efaf3106323352de8255fd8ab68e9d	BACKGROUND Adrenocortical @DISEASE$ (AONs) are extremely rare @PHENOTYPICFEATURE$.	false
+b67f7f690d9d69a75e8a75c3910759653fa8504b	On histology, the @PHENOTYPICFEATURE$ proved to be an @DISEASE$.	false
+bcd5ba6744c2327ab68cee25d31ba7b37b4f852d	Microscopically, the larger @PHENOTYPICFEATURE$ showed characteristic features of an @DISEASE$.	false
+c7a7cbeb1c35675c174c76e7f76c997d075b2bb2	Adrenal @DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+0acbfdab7151efeab5c80c4c04b689a70229b02c	The @PHENOTYPICFEATURE$ was best diagnosed as an @DISEASE$.	false
+9dbf1e1823451be7c7f027d3c23bfedd139fd7ee	@DISEASE$; rare adrenocortical @PHENOTYPICFEATURE$ - a report of eleven patients.	false
+648d72ab962ee1f8ef7094771b0d5a8b7529f93b	@DISEASE$-like @PHENOTYPICFEATURE$ have never been found to metastasise.	false
+9461f94d7b7cd6bec6bf683ff43b86f4fda87b4a	Metachronous renal @PHENOTYPICFEATURE$ after surgical management of @DISEASE$.	false
+942922a1a6b66129ef67b9f3e91a44fad8c2527a	Adreno cortical @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+f9807f8930b190b8fc6e6f0c71c307ca2bdf3465	Taken together, these data indicate that adult idiopathic @DISEASE$, as defined by severe ADAMTS13 deficiency, may occur preferentially in a particular ethnic group, and is characterized by severe thrombocytopenia, mild renal involvement, and a wide spectrum of @PHENOTYPICFEATURE$ manifestations that may be completed during follow-up.	false
+d477d0d374eaec672b4e8d898eeee5fa56e3e6d3	In regard to other variables that may affect response to therapy in @DISEASE$ patients, we found no association between @PHENOTYPICFEATURE$ and NoP; however, obesity rate was higher among ADAMTS13 deficient patients compared to overall obesity rate of our regional general population.	false
+3a6e3ad0fc578f18db37580fb22db2dd0cc7da87	In regard to other variables that may affect response to therapy in @DISEASE$ patients, we found no association between obesity and NoP; however, obesity rate was higher among ADAMTS13 deficient patients compared to overall @PHENOTYPICFEATURE$ rate of our regional general population.	false
+8d7c52c2fe8889ab4dd5d07941ade05a392b58ab	In regard to other variables that may affect response to therapy in @DISEASE$ patients, we found no association between obesity and NoP; however, @PHENOTYPICFEATURE$ rate was higher among ADAMTS13 deficient patients compared to overall obesity rate of our regional general population.	false
+bd38fb03f8ac7e2e4ab2f672b9e98f2e66aa3928	@DISEASE$-hemolytic uremic syndrome (TTP/HUS) is a multisystem disorder characterized by consumptive thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, @PHENOTYPICFEATURE$, and fever.	false
+7b0410d377ccd58088780c7d9e14713ac1c566fb	We describe a case of Wegener's granulomatosis which presented with rapidly progressive renal insufficiency, sudden @PHENOTYPICFEATURE$, red eye, facial palsy, and complicated by uncommon manifestations that were diffuse pulmonary hemorrhage and @DISEASE$.	false
+d6cdb509b97196c69092c90ff1029ae6f42405f3	@PHENOTYPICFEATURE$ may constitute an important and unrecognized cause of mortality and morbidity in patients with  @DISEASE$ (TTP).	false
+f340f0924b9b5a0c5c3ef309f35995008be080fb	Heart transplantation for acute @PHENOTYPICFEATURE$ caused by @DISEASE$ (TTP).	false
+8746e11f2529cdb3142483d5f721a9f9a0f4ba83	Besides the well-established indications for apheresis treatment, such as familial hypercholesterolaemia, hyperviscosity syndrome and @DISEASE$ (TTP), we discuss the novel approaches in the therapy of dilated cardiomyopathy, @PHENOTYPICFEATURE$ and some specific syndromes of severe dysfunction occurring after heart transplantation.	false
+0713a6c365accaf6258c4c24bf388b514b6eb39a	Here, we provide an update on recent findings of the relationship between ADAMTS13 and hematological/cardiovascular disorders, including @DISEASE$, arterial thrombosis, thrombotic microangiopathy, myocardial infarction, ischemic stroke, @PHENOTYPICFEATURE$, and hypertension.	false
+4b9780a36dae94e8fe468f066abbd66d5dc1e7f4	Informally, @PHENOTYPICFEATURE$ was felt to be common in patients with @DISEASE$ and so a formal study was undertaken to further define this association.	false
+b4c5fe74d1a5129d754ae32ec7122fa058e86b40	The aim of this study was to investigate the incidence of acute myocardial infarction (AMI), arrhythmias, @PHENOTYPICFEATURE$, and mortality in patients hospitalized for @DISEASE$ (TTP).	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+a345e4dc6d31d3aa3ef689e9a26a8372eb4a30a6	Frequently, @PHENOTYPICFEATURE$ or @DISEASE$ preclude visualization of macular details.	false
+190637755d633b38532be554b37879e691f4137d	Growth retardation, intellectual disability, facial anomalies, @DISEASE$, @PHENOTYPICFEATURE$, and skeletal abnormalities: a novel phenotype.	false
+169d8127949f408a775bd8ce0de656ce34aa9912	@PHENOTYPICFEATURE$, intellectual disability, facial anomalies, @DISEASE$, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.	false
+70ddbda8c8c6a0e17a645cf19ba31107a590d119	To evaluate the relationship between @PHENOTYPICFEATURE$ and incidence of age-related @DISEASE$.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+2ce17a168a946f70498478357866e1c3dfb60a0d	Growth retardation, distinct intellectual disability, @PHENOTYPICFEATURE$, mild @DISEASE$, uneven teeth, abnormal palmar and plantar creases, and dubious genitalia were noted in the sister.	false
+2d7f271301c38bd7a1a4c6491c79ef9149deac32	@PHENOTYPICFEATURE$, distinct intellectual disability, hypertelorism, mild @DISEASE$, uneven teeth, abnormal palmar and plantar creases, and dubious genitalia were noted in the sister.	false
+759e12302cbda689dc1fc8373673fe5debcd1b8c	Adverse effects of steroids, including @PHENOTYPICFEATURE$, growth retardation, osteoporosis, @DISEASE$ and hyperlipidemia, gradually worsened.	false
+41881193cfc2272b716ac26b60ded08ce9b4321e	Adverse effects of steroids, including obesity, @PHENOTYPICFEATURE$, osteoporosis, @DISEASE$ and hyperlipidemia, gradually worsened.	false
+ccb8155ac62573f6d3b9b60821570118d99abe82	@PHENOTYPICFEATURE$ and @DISEASE$: triple procedure versus secondary approach.	false
+48716c0f931412f5bfbe7d8a45da5097b25ba419	The clinical manifestations of CRS include @PHENOTYPICFEATURE$, cardiac defects, @DISEASE$, and hearing impairment.	false
+8564111275b4177ad319006d41f622f190c397d7	The clinical manifestations of CRS include growth retardation, cardiac defects, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+19043cde7d0a82a4cc8c0cbb13fd922f206aa229	No monkey developed @DISEASE$, @PHENOTYPICFEATURE$, or vitreous or retinal change.	false
+2ca670be1a73d50c1c5e725e29eef2bc35cefda6	A putative pathogenetic role has been ascribed to Helicobacter pylori in several extradigestive diseases, including vascular (atherosclerosis and ischaemic heart disease, primary Raynaud phenomenon, primary headache), autoimmune (Sj?gren's syndrome, Henoch-Sch?nlein purpura, autoimmune thyroiditis, idiopathic arrythmias, Parkinson's disease, nonarterial anterior optic ischemic neuropathy), and skin diseases (chronic idiopathic urticaria, rosacea, alopecia areata), sideropenic anemia, @PHENOTYPICFEATURE$, late menarche, extragastric @DISEASE$, diabetes mellitus, hepatic encephalopathy, sudden infant death syndrome, and anorexia of aging.	false
+cb667fb4bfcc135b9b51aef8900d0d5db2688ec3	Concerning systemic diseases, 11 of our 14 patients presented several cardiovascular risk factors, i.e., @DISEASE$ and arterial hypertension and hypercholesterolemia in one patient; another patient had chronic bronchitis, @PHENOTYPICFEATURE$ and hypercholesterolemia. Six patients presented coagulation anomalies, and eight patients had arterial hypertension.Doppler sonography revealed normal carotid arteries in nine of ten patients.	false
+f542d78469da009618b0eaca8213da60f6820dd0	@DISEASE$ must be considered in the differential diagnosis in patients presenting radiographically with @PHENOTYPICFEATURE$.	false
+b30e581dc874d1fb38f21ad70f3119e7c1e0c625	Recently, several extradigestive pathologies have been linked to H. pylori infection including cardiovascular, cutaneous, autoimmune, esophageal and other diseases such as sideropenic anemia, @PHENOTYPICFEATURE$, extragastric @DISEASE$ etc.	false
+11d0e2c3a7fc0be7c3d43d4364da7b5863ca9447	Soon after, it was linked to several gastrointestinal and extra-gastrointestinal diseases (hematological, cardiovascular, neurological, pulmonary and ocular diseases, @PHENOTYPICFEATURE$, diabetes mellitus, growth retardation and extragastric @DISEASE$).	false
+e288917624c59c628081245f0871fd79c32b386c	Soon after, it was linked to several gastrointestinal and extra-gastrointestinal diseases (hematological, cardiovascular, neurological, pulmonary and ocular diseases, obesity, diabetes mellitus, @PHENOTYPICFEATURE$ and extragastric @DISEASE$).	false
+1f9f5132db57187605b8ec56ab8d7a737d4cb716	The @DISEASE$ cardiomyopathy is mainly characterized by 2 distinct phenotypes, a dilated phenotype, with left ventricular dilatation and impaired contractility and a restrictive phenotype, with restrictive left ventricular filling, pulmonary @PHENOTYPICFEATURE$, and right heart failure.	false
+dca4fee0778afc9e3282122816851d5e0126d0fe	Although the most commonly described hallmark features of the 2q37 deletion syndrome include @DISEASE$, developmental delay, obesity, autistic features, and craniofacial or skeletal dysmorphism, a literature review of 101 published cases plus two newly reported individuals indicates that there is a high degree of variability in the presence of some of the features that are considered the most characteristic of the syndrome: overweight and @PHENOTYPICFEATURE$ (34%), cognitive-behavioral issues (79%), dysmorphic craniofacial features (86%), and type E brachydactyly (48%).	false
+495e2b97ea59c10b70f5130847d90e1a6a8f6e8e	Although the most commonly described hallmark features of the 2q37 deletion syndrome include @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, autistic features, and craniofacial or skeletal dysmorphism, a literature review of 101 published cases plus two newly reported individuals indicates that there is a high degree of variability in the presence of some of the features that are considered the most characteristic of the syndrome: overweight and obesity (34%), cognitive-behavioral issues (79%), dysmorphic craniofacial features (86%), and type E brachydactyly (48%).	false
+47439146b4f36c00a6654ebe29e9818c937717fc	@DISEASE$ (DRESS) syndrome is a rare, potentially life-threatening, drug-induced hypersensitivity reaction that includes rash, @PHENOTYPICFEATURE$, lymphadenopathy, and internal organ involvement.	false
+0881b47253cd287ec0105ed9841c80c9b708b74e	During the last decade, some reports documented the existence of patients with @DISEASE$ showing additional features characteristic of AHO such as @PHENOTYPICFEATURE$ and brachydactyly, previously thought to occur only in other GNAS-associated disorders.	false
+6b77ff8ddbf201f3206523c7006ee8d7edeb8f21	Our patient has evidence of both severe @DISEASE$ and PHP Ia, apparently due to a de novo @PHENOTYPICFEATURE$ in GNAS.	false
+2f11b3b6d75cf8493f75eb195a480b53101acc52	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (@DISEASE$) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, @PHENOTYPICFEATURE$, mental retardation and endocrine deficiencies due to resistance to the action of different hormones.	false
+6c3b812152e27b5c5f0b7423c03374e7cb5ef002	However, the presumed ocular histoplasmosis syndrome (@DISEASE$) remains an uncommon cause of @PHENOTYPICFEATURE$ in this state.	false
+81b9a5d1476373288acefb4f4fbed039bbf53600	The extraesophageal symptoms possibly associated with GERD are chronic cough, bronchial asthma, @PHENOTYPICFEATURE$ including obstructive sleep apnea, hoarseness, dental erosions, non-cardiac chest pain and @DISEASE$.	false
+eec692302e94b772008451e458d5142d78b49194	Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$ and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung condition called @DISEASE$ (IPF).	false
+9e10f8c383b8ae20f6498feae0304a681c97a0e6	We report a rare case of isolated renal @DISEASE$ in a 71-year-old man with a history of vague abdominal pain, anemia, @PHENOTYPICFEATURE$, and microhematuria.	false
+742711e2a6d989866f73a8b4ff37d70646691fd2	An 89-year-old man with a history of @PHENOTYPICFEATURE$ extraction and @DISEASE$ developed recurrent hyphema, which was subsequently revealed to be due to an iris mass.	false
+8ebba36e3abb78f8e205a2ae738b86c6ee68c589	On the basis of cytology and membrane phenotype the following disorders were defined: (i) B cell type: chronic lymphocytic leukaemia (CLL); CLL of mixed cell type, which includes cases with more than 10% and less than 55% prolymphocytes (CLL/PL), and a less well defined form with pleomorphic lymphocytes but less than 10% prolymphocytes; prolymphocytic leukaemia (PLL); hairy cell leukaemia (HCL); HCL variant; splenic lymphoma with circulating villous lymphocytes; leukaemic phase of non-Hodgkin's lymphoma (follicular lymphoma, intermediate, or @DISEASE$ and others); lymphoplasmacytic lymphoma with peripheral blood disease (mostly Waldenstr?m's macroglobulinaemia); and plasma cell @PHENOTYPICFEATURE$.	false
+e6c7cd4a2226c4caca6b164c51cce4fdaabd6582	It was observed that @DISEASE$ patients significantly correlated with hypercalcemia and higher serum-free light chain ratios, whereas IgA patients were strongly associated with @PHENOTYPICFEATURE$ and lower serum albumin levels.	false
+12889ed0d1b76feb8d690e283b7f9b4c0b46da46	In patients with large numbers of antigen-dense cells that have a high mitotic index, such as prolymphocytic leukemia, @DISEASE$, or lymphosarcoma cell @PHENOTYPICFEATURE$, there is a risk of true tumor lysis syndrome.	false
+56b76a10f8c64e04de5c06a30a7b2508270d3088	This is the first study to show that CD200 expression in mantle cell lymphoma, though uncommon, identifies a subgroup of @DISEASE$ patients with characteristic pathological features, frequent non-nodal @PHENOTYPICFEATURE$ variant, and an indolent clinical course.	false
+87460328f6432a5b0de9515cb8bc4b855a36a59b	This is the first study to show that CD200 expression in @DISEASE$, though uncommon, identifies a subgroup of mantle cell lymphoma patients with characteristic pathological features, frequent non-nodal @PHENOTYPICFEATURE$ variant, and an indolent clinical course.	false
+8a2491d108977193b7a14e1d2bfca4211b056878	We confirmed that Netherton syndrome and @DISEASE$ patients have a higher risk of allergy to food or environmental allergens and of @PHENOTYPICFEATURE$, respectively.	false
+c80ef7a1e1f91df18e400970a4e62d70d0a7c6c8	We describe a 21-year-old-FMF amyloidosis case with a well-functioning allograft who presented to the emergency clinic with the complaints of abdominal pain, @PHENOTYPICFEATURE$ and diarrhea mimicking @DISEASE$ attack.	false
+44e32a07f7d0296fb712421a943b3b33415c08b2	We describe a 21-year-old-@DISEASE$ amyloidosis case with a well-functioning allograft who presented to the emergency clinic with the complaints of abdominal pain, @PHENOTYPICFEATURE$ and diarrhea mimicking FMF attack.	false
+4f542e5f8436170826d3f2fd5b5ba0cd30cfe052	We report the case of a 35-years-old renal transplant patient known to have @DISEASE$ with serum amyloid A (SAA)-amyloidosis, who presented with his second episode of bilateral @PHENOTYPICFEATURE$.	false
+cabb9736d4f791148df79de1fddb5396a5e3cfb4	@DISEASE$ optic disc @PHENOTYPICFEATURE$ and optociliary shunts.	false
+5a499b3b23a787b05e74086a842a4532e78d6426	Inflammatory optic disc @PHENOTYPICFEATURE$ due to @DISEASE$ mimicking malignant hypertension.	false
+94d3554d20b20ea153f78e89bd390a9557437f47	A 39-year-old male patient complaining of bilateral hand joint @PHENOTYPICFEATURE$ was evaluated and found to have chronic hepatitis C and systemic @DISEASE$ involving lung, skin, liver, and spleen.	false
+6efb43199b82a4b8d479fdc30eeaaa5855239b01	@PHENOTYPICFEATURE$ was present in 25% of @DISEASE$ patients and was associated with more severe pulmonary disease.	false
+329df90b1554090c8493e8380042c2f52bc2721e	Remitting seronegative syndrome with pitting @PHENOTYPICFEATURE$ as the presenting symptom in a young, male patient with @DISEASE$: a case report.	false
+41f530886d90347a6b584e81f8831454d1f023dc	@DISEASE$ patients vs those with SD (p < 0.001) had massive enlargement of the salivary glands (84.3%) with severe xerostomy which appeared rather early (78.9%), affection of the lacrymal glands manifesting with enlargement of the palpebral region, @PHENOTYPICFEATURE$ of the upper eyelids (57.9%), pulmonary lesion (78.9%), cranial nerves (47.4%), skin (42%), enlargement of the intrathoracic lymph nodes (100%).	false
+2d8e82f09cbbcd350e0fe5ecf6e485199d894e1c	We report a case of nodular @DISEASE$ in a young male of Middle-East origin who had initially presented with bilateral painful ankle @PHENOTYPICFEATURE$.	false
+bdc7da91b27f6e7a05b08c35704b7d28cd41bef9	Widespread @PHENOTYPICFEATURE$ in the follow-up of a patient with @DISEASE$--anauxetic dysplasia spectrum disorder: a coincidental finding?	false
+8c56d897a3b7cd845a2d6b68d8dd57a0054f7311	We report a child with @DISEASE$ and Hodgkin's disease who developed progressive @PHENOTYPICFEATURE$ and died following infection with a polyomavirus, BK virus.	false
+a26598fbb43edf68bb0101c66191b60c20332086	Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human @DISEASE$ region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to @PHENOTYPICFEATURE$ cell proliferation, and human aldolase A gene promoting tumor cell proliferation.	false
+b3bad57bd8263fc5ad31a7f854a25a1388d03015	Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for @DISEASE$, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with @PHENOTYPICFEATURE$ growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation.	false
+ce94fad58cc2a4e37fdec374558ede9126a9db70	Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for @DISEASE$, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting @PHENOTYPICFEATURE$ cell proliferation.	false
+9d0debe6ec52c8cfbbcad50697df4eb07be3057e	Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human @DISEASE$ region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with @PHENOTYPICFEATURE$ growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation.	false
+32aa3580cf4bc6bd71d3b7cd8ef862561a0c393f	Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for @DISEASE$, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to @PHENOTYPICFEATURE$ cell proliferation, and human aldolase A gene promoting tumor cell proliferation.	false
+21cfbae1a25bb4f66d5002d788ad58608656a65d	Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human @DISEASE$ region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting @PHENOTYPICFEATURE$ cell proliferation.	false
+929df5e0495b9b6227409ff44f3c40195a6033fb	@PHENOTYPICFEATURE$ in @DISEASE$ myeloma.	false
+84754591e371d509e6442e5e3e0692a38fecd263	Response to adriamycin and CCNU in a patient with @DISEASE$ multiple myeloma and @PHENOTYPICFEATURE$.	false
+fabb981cd521e5c0cd39faa090ef57a1d1dd5e62	Conclusions These findings shed light on @PHENOTYPICFEATURE$ and poor academic achievement in relation to Lebanese adolescents identified with @DISEASE$.	false
+51b634649af9b709356a9b5f79bc67cde404e9cc	Severe postural instability and freezing of gait, causing frequent falls and fractures, and prominent dysarthria and @PHENOTYPICFEATURE$ dominated the @DISEASE$.	false
+db7f563eacead889248032c434d715dab95015db	The @DISEASE$ includes dystonia-like movements, a fine tremor, and an @PHENOTYPICFEATURE$.	false
+11c53676fa1b56761f9a0731556a9213b5f7cfb5	These results demonstrate that toluene can cause a persisting @DISEASE$ in rats that resembles, to some extent at least (i.e., wide-based @PHENOTYPICFEATURE$), the syndrome seen in some heavy abusers of toluene-containing products.	false
+f6fa0d00bf88188c24b20dbdd58e8987899f873b	The main indications for TMJ prosthesis include ankylosis, fractures of condylar that can't be fixed, trauma or @PHENOTYPICFEATURE$, end-stage TMJ disturbance, and TMJ dysplasia caused by @DISEASE$.	false
+8c133bfc77a37797188122da43c17c038498b725	We describe 3 young children with @DISEASE$, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a @PHENOTYPICFEATURE$ and with complete syndactyly of fingers IV and V.	false
+37b86b81e62e72d15c0695f472f0f4530aa84b61	@PHENOTYPICFEATURE$ and ophthalmoplegia led to muscle biopsy, which disclosed accumulation of normal and abnormal mitochondria ('ragged red fibres'), characteristic of @DISEASE$.	false
+8710d14c73a19c538cd3a82ef4d1a6fa3048765b	Three bedouin children with @DISEASE$ due to cytochrome c oxidase deficiency presented with progressive muscle weakness, @PHENOTYPICFEATURE$, proximal renal tubular acidosis, and lactic acidemia leading to death.	false
+04608a07341d8fed188d9bc52d288f1620c17342	Morphological studies in a 26-year-old man with long-standing Kearns-Sayre syndrome, with @PHENOTYPICFEATURE$ and a fatal congestive cardiomyopathy, revealed a @DISEASE$ of both skeletal and myocardial muscle (H?bner et al. 1986).	false
+69e7eb4ba51147dd6e572320771fa561cd3dc942	Adaptation of 6Ce3@DISEASE$ @PHENOTYPICFEATURE$ cells to culture invitro.	false
+8b0ea82384e73e0ed3815640f74c6a8e7283df86	@DISEASE$ with ankylosis of temporomandibular joint and @PHENOTYPICFEATURE$: A rare presentation.	false
+cde4266b3b8d0e8e4bda3f02836f89d688707240	The most marked improvement in @PHENOTYPICFEATURE$-free survival was found with the mildly immunogenic 6C3@DISEASE$ lymphosarcoma.	false
+f0c42dc9b0a5b962f0a9dc96330ae449efcf63c8	Furthermore, @DISEASE$ strongly impacts the diversity of @PHENOTYPICFEATURE$, viral and self-immunopeptidomes and intratumoral T cell receptor clonality.	false
+cec0040904961b28e8dbfda88d862e0493cd8816	The degree of @DISEASE$ accumulation (SUVmax) in the @PHENOTYPICFEATURE$ correlated to malignancy and biochemical data.	false
+78825beae0b6f9353a96f7b7a563a73ff2f0c34e	The uptake of @DISEASE$ into neuroblastomas was rapid; @PHENOTYPICFEATURE$ were evident on images within 5 min postintravenous injection.	false
+520ff7ee368ad9109fbde9a1631fc5d71adcd9cd	[@DISEASE$ with fissuration of hands and feet, cleft lip and @PHENOTYPICFEATURE$].	false
+ec3e71e5f8a5577ec5ce710453fc1466c0f1fed8	Mutations in the genes encoding components of the @PHENOTYPICFEATURE$ necrosis factor (TNF)-?-like pathway cause @DISEASE$ (HED).	false
+344792ae974b7f734bbfb444b9f26653a853f897	Mutations in the genes encoding components of the @PHENOTYPICFEATURE$ necrosis factor (TNF)-?-like pathway cause hypohidrotic ectodermal dysplasia (@DISEASE$).	false
+d00ef45910c93fc5579b0d40d7b6eb66e2eff9d2	The anti-lymphoma effect of guinea-pig serum in mice carrying the 6C3@DISEASE$ @PHENOTYPICFEATURE$ was confirmed.	false
+78780d30d2d98086d69bde1665f56a08a80aa7f2	Congenital hepatic fibrosis (CHF) and @DISEASE$ are frequently associated with @PHENOTYPICFEATURE$ diseases.	false
+7498ed9f8906bab5f16d80eb42a1e56985fb8c30	We describe a case of @DISEASE$ (Caroli's disease and congenital hepatic fibrosis) in a 10-year-old boy with bilobar involvement and numerous @PHENOTYPICFEATURE$.	false
+32e91818e0a10bf1e0a07d35300ffbe8f9292c7e	In man, @DISEASE$ is frequently associated with renal and pancreatic cysts; a single @PHENOTYPICFEATURE$ was identified in this case.	false
+c2ff095796d630f4021085ccb6c0133de3c32bb1	@DISEASE$ (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous @PHENOTYPICFEATURE$.	false
+ae6578cd95708e22baba4d7f63a684414a34b9ae	SNORD116 deletions cause @DISEASE$ with a mild phenotype and @PHENOTYPICFEATURE$.	false
+c4f8f3c91e28a134d11350b90329c5fbdda1f8a7	Childhood subdural hemorrhage, @PHENOTYPICFEATURE$, and coagulopathy associated with @DISEASE$: case report and review of the literature.	false
+0a75a1e9e829220a4b36702ca1a5fb5216dffa17	These non-polymorphic copy number variations were associated with Angelman and @DISEASE$, and @PHENOTYPICFEATURE$.	false
+eadd7cc7fdd52784675d5e8d19e25f665dde8bd7	To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with @PHENOTYPICFEATURE$, in others with myotonia congenita, in others with infantile glycogenosis type II, in others with @DISEASE$, and in 4 age-matched controls.	false
+441752445d29e5946d6b4976512fc297c9649265	A 9 1/2-year-old Taiwanese boy with @DISEASE$ had the following characteristics: difficulties with sucking, feeding and hypotonia during infancy, a dysmorphic face (triangular mouth, high arched palate, almond-shaped eyes and @PHENOTYPICFEATURE$ with a relatively narrow bifrontal diameter), borderline intelligence, hypogonadism, hyperphagia, skin picking and truncal obesity.	false
+86a7f185ee5f22722b5a4cf5e015933d1bfe9f55	@DISEASE$ (BS) is a disorder characterized by joint flexion contractures and @PHENOTYPICFEATURE$ that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI).	false
+1942a71c1dc9c3267fb187806a9e573ddf48e954	@DISEASE$ (BS) is a disorder characterized by joint @PHENOTYPICFEATURE$ and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI).	false
+1507149f5c2d14ad9256d78a3c69af7b49021c3e	@DISEASE$ - a rare syndrome of bone fragility and @PHENOTYPICFEATURE$ and novel homozygous FKBP10 mutation.	false
+bf38a82b0c969ac006259aac4eba86f3fcd04135	@DISEASE$ is characterized by the presence of osteoporosis, @PHENOTYPICFEATURE$, fragile bones, and short stature.	false
+a2c7b6eb2a9a56dda124d318a2b0a7053494f004	@DISEASE$ is a rare autosomal recessive connective tissue disorder characterized by fragile bones, @PHENOTYPICFEATURE$, scoliosis, and osteoporosis.	false
+9eeaebfba0f98bdfb94cf91b06607b98631554c8	The aim of this study was to evaluate the association of @PHENOTYPICFEATURE$, fractures, and deformities in four patients with @DISEASE$ treated in our facility.	false
+288aa0d4eba813f72a078d52aacef86601b9259b	Although the genotypic and phenotypic features of @DISEASE$ are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and @PHENOTYPICFEATURE$, which supported the diagnosis of Bruck syndrome.	false
+13ec6af31770e58b20e181701cdf23b23c90a7e5	Although the genotypic and phenotypic features of Bruck syndrome are heterogeneous, we report a baby girl having gastroschisis complicated with jejunal perforation in addition to bone fractures and @PHENOTYPICFEATURE$, which supported the diagnosis of @DISEASE$.	false
+869df162bf080e376648d19a5f5f4acec55e341b	Loss of function mutations in FK506-binding protein 10 (FKBP10), encoding the FKBP65 protein, result in recessive OI and @DISEASE$, of which the latter is additionally characterized by @PHENOTYPICFEATURE$.	false
+3689a5d990b413116df71da2f5f372cc701ece00	@DISEASE$ is a rare autosomal recessive form of osteogenesis imperfecta (OI), which is mainly characterized by @PHENOTYPICFEATURE$ and recurrent fragility fractures.	false
+d8f3ea9a9264ae0ceff661a8193a4fe3d1035289	The occurrence of heart and @PHENOTYPICFEATURE$ in association with usual features of the @DISEASE$ might be explained by either defective high-energy metabolism during early embryogenesis or a common genetic cause.	false
+5ba6d8a900242258e9c06331bb301395445436e0	Moreover, the findings reported in this work may have a particular significance for inherited mitochondrial human diseases, such as @DISEASE$ (MELAS), which cause brain swelling and @PHENOTYPICFEATURE$.	false
+61e6f1b2f57da6cdd2f07d284187a07d49101b61	In @DISEASE$ (ALF) hyperammonemia plays a mayor role in the pathogenesis of hepatic encephalopathy (HE) but does not always correlate with the severity of @PHENOTYPICFEATURE$ and intracranial pressure (ICP).	false
+527299d668c417940de5f3ef67e28bacaa7ab141	To document the association of neurohypophyseal dysgenesis with @DISEASE$ in a child with primary bilateral @PHENOTYPICFEATURE$.	false
+763bf5507c87e7221cd13833e314063e741d1c70	Clinical picture comprises headache, @PHENOTYPICFEATURE$, cranial nerve palsies and @DISEASE$.	false
+4fae9183fa0b8e2cb3aa252aed873586d8d7e518	One patient died and the two others experienced persistent @PHENOTYPICFEATURE$ with worsening @DISEASE$.	false
+8fa9045fc271ec0c65e57bef6d9537bae4b201b2	Key words: hyponatremia, malaise, @PHENOTYPICFEATURE$, @DISEASE$, pituitary adenoma.	false
+d4375ba2a6c76bfd8d0969084b9450d828552944	We also identified one heterozygous 6.5-Mb deletion encompassing OTX2 in a patient with bilateral @PHENOTYPICFEATURE$ and multiple @DISEASE$.	false
+6080278deca104d64bc55a7d507341c85f4bf95e	There was no significant difference between the two techniques in the incidence rates of meningitis, diabetes insipidus, cerebrospinal fluid leak, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+271006617a32c0987171707a583959e23d6a9bbd	Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe @PHENOTYPICFEATURE$ and @DISEASE$.	false
+637983d17d6c6c8ec37f27f521ef6e107259de87	Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral @PHENOTYPICFEATURE$ or severe microphthalmia and @DISEASE$.	false
+707d2c0272138c35190a5db1ae04d64f247b0c8b	The presenting symptoms were mostly headache, @PHENOTYPICFEATURE$, symptoms of @DISEASE$, diabetes insipidus.	false
+f499ede6445c2cb67eb1e7b930ce2d4c751a47d4	A patient is described with a new association of @PHENOTYPICFEATURE$, single central incisor, and @DISEASE$ believed to represent a holoprosencephaly malformation.	false
+248705864ce3a8f2444115ae9333e4174f0aa30a	The most common presenting symptoms are @PHENOTYPICFEATURE$, hypothalamic dysfunction, @DISEASE$ and headache.	false
+5d43efd897a1d90669ccd6760bd99e2c5782b8f1	Pyogenic sacroiliitis and @DISEASE$ in a patient with systemic lupus @PHENOTYPICFEATURE$.	false
+754f16542bfcf0679e382268800aa911c036beea	An inborn @DISEASE$ of purine metabolism, @PHENOTYPICFEATURE$ and neurodevelopmental abnormality.	false
+88fa287aa1f36d474d7736e800beb681b2c6ef2f	Regression analyses with complex survey designs were performed to assess the associations of @DISEASE$ with other @PHENOTYPICFEATURE$ measures, hypertension and T2DM.	false
+28f92ba75d98a27b02f627610027f565c61e2af8	Of 84 patients with spontaneous @PHENOTYPICFEATURE$, 31 @DISEASE$ patients were divided into 2 groups.	false
+d21ddf961851c3273a212992a926a44c167aef8a	Examples include inborn @DISEASE$ in mitochondrial metabolism or end-stage @PHENOTYPICFEATURE$.	false
+59ac3e66a8ca73c540b9ae78610fdd2f45749102	The major causes of primary @PHENOTYPICFEATURE$ include dietary @DISEASE$ (e.g.	false
+20cee17f53e4fa91042d6fd60973292d5d4484fd	Richner-Hanhart syndrome (tyrosinemia type 2) is an inborn @DISEASE$ of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including @PHENOTYPICFEATURE$ and keratosis palmoplantaris.	false
+742b2031398f960df1aeb4b26ab40b0619ef081e	Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inborn @DISEASE$ of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and @PHENOTYPICFEATURE$.	false
+556d3dad8eb8f1974151932fee4ac9fc6ceb15f1	This finding, together with neurosensory @PHENOTYPICFEATURE$ and other neuromuscular defects, may suggest that there is an underlying inborn @DISEASE$ of nervous system in the KID syndrome.	false
+67ba627a1b53ed94794b459a87468968484dc5ac	[Screening test detection of genetic @DISEASE$ of metabolism in children with @PHENOTYPICFEATURE$ (author's transl)].	false
+2c8805b10ba2879a2b414b56b790eadd868b213e	In the @DISEASE$ group, all patients were male and most patients experienced @PHENOTYPICFEATURE$ during sleep or low activity (79%).	false
+044c5859edf04214bd11fe91e24b196d2416ffe4	Two sisters and one brother, all with normal intelligence and no evidence of @PHENOTYPICFEATURE$, present progressive @DISEASE$, stunted growth, corneal opacities, and increased keratansulfaturia.	false
+c7e7411dc83dd0ecd6dd9f0a07ef91da3cd8301f	A 14-year-old girl with a unique type of progressive @DISEASE$, corneal clouding, and no evidence of @PHENOTYPICFEATURE$, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations.	false
+42387cfac8a669fa0d4f482dcfa15c05f499156b	@DISEASE$ (SED) is a descriptive term used for group of inherited disorders of bone growth resulting in short stature, @PHENOTYPICFEATURE$, and problems with hearing and vision.	false
+8dc4b860052539ce16698d405375d35cd7be13a0	However, in the past years a broad spectrum of muscle disorders have been recognized including glycogen and polysaccharide storage myopathies, @PHENOTYPICFEATURE$, @DISEASE$, hyperkalemic periodic paralysis and others.	false
+ea76de2175903188575abd307fed25fd145cef37	We report a 14-year-old boy with @DISEASE$, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) who presented repeated episodes of @PHENOTYPICFEATURE$ and vomiting since the age of 8 years.	false
+84fe3326bbce5e166d36f7c0674ec477bec506b6	@DISEASE$, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, @PHENOTYPICFEATURE$, encephalopathy and lactic acidosis.	false
+b2fe474068f3f4b1cf3a8525e13769d591b445c3	Our results suggest that, in addition to sensorineural HI, the m.7510T>C mutation is associated with a spectrum of mitochondrial disease clinical features including migraine, epilepsy, @PHENOTYPICFEATURE$, ataxia, and tremor, and with evidence of @DISEASE$.	false
+63f542206ee537a89dc52c484753977c8fee748b	Clinical presentations were variable, including @DISEASE$ with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis in a young female who had received a liver transplant at 9 months of age and adult-onset lower motor neuron syndrome with mild @PHENOTYPICFEATURE$.	false
+f7d6d192c4e2d5e07ffcdcd8783a9ca41af79125	profound mental retardation, spastic quadriplegia, ponto-cerebellar hypoplasia and progressive @PHENOTYPICFEATURE$); (ii) optic nerve atrophy and (iii) mild secondary @DISEASE$ detected by muscle biopsy and respiratory chain enzyme analysis.	false
+7c09e74502449c60f4c1302cfdd2ae8375e119e0	Myoclonic seizures, intractable @PHENOTYPICFEATURE$, and headaches resolved during the concomitant administration of sodium dichloroacetate and vita min B1 in two Japanese siblings with the MELAS syndrome (@DISEASE$, encephalopathy, lactic acidosis and strokelike syndrome).	false
+48d610c0e742955fd2962e98a2c884903c91f809	Some neuromuscular disorders, such as Duchenne muscular dystrophy, hereditary inclusion body myopathy, @PHENOTYPICFEATURE$, alcoholic myopathy and @DISEASE$ are characterized by oxidative stress and loss of muscle fibres due to apoptosis.	false
+3403c2d704060b8d0f5c5e63bbb1b94aee9b819a	The muscle biopsy showed a @DISEASE$ associated with a @PHENOTYPICFEATURE$ susceptibility.	false
+38f688e9d1197b8d3cff0e6c58dd348590a261dd	Positive @PHENOTYPICFEATURE$ susceptibility in vitro test in a patient with @DISEASE$ and myoadenylate deaminase deficiency.	false
+313e17aaf3ca90a12c1ea81a531274a90ad7ec77	Furthermore, the tumor expressed other lineage-specific transcription factors, as well as SOX2 and octamer-binding transcription factor 4, demonstrating the multipotentiality of @DISEASE$ @PHENOTYPICFEATURE$.	false
+24dd73ca99f0d8b5ba132e3a3fabdbc0f5ad2800	Furthermore, the @PHENOTYPICFEATURE$ expressed other lineage-specific transcription factors, as well as SOX2 and octamer-binding transcription factor 4, demonstrating the multipotentiality of @DISEASE$ tumors.	false
+110fee975545842c908a3717b1f6d13b9445d5be	A 50-year-old man who presented with a @PHENOTYPICFEATURE$ and epigastralgia was diagnosed to have @DISEASE$ which was identified as poorly differentiated adenocarcinoma producing alpha-fetoprotein (AFP) with Barrett's esophagus.	false
+a48dd290423771d93714eb0a9614051be0c61699	A 46-year-old male with @DISEASE$, who had taken radiotherapy, presented with @PHENOTYPICFEATURE$ and dyspnea.	false
+b5c26d8b1ae085c3bb2b17c806aac9a53e550efb	Here, we described a 66-year-old man undergoing the Ivor Lewis esophagectomy for @DISEASE$, who developed drug @PHENOTYPICFEATURE$.	false
+6beb6e6e1d6cb2ff39612aa35ccb60b921d80091	Pseudo-@DISEASE$ caused by an inhibin B-secreting granulosa cell @PHENOTYPICFEATURE$: case report.	false
+aaf4e442d884d951b21227805c8017d7be9c165e	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+6cd234df31ed2962899910995344f77589a2210b	@DISEASE$ type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+1a33a28cd72aaa160ad0e9402e13e7b2ccbf5a7d	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+63de8fd5b629fd43f1f2d07c16ddaa0cb96b0c7b	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, @PHENOTYPICFEATURE$ and glossal defects.	false
+a5ec3c1af96a2f0ce4de15df9418900ad591ea05	A female infant was classified as having @DISEASE$ (OFDS) type 1, with oral (cleft palate, bifid uvula, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; @PHENOTYPICFEATURE$), and digital (bilateral brachydactyly of hands) symptoms.	false
+399199d152faa005e29ccfb36e9e32d7a66b2011	An 18-year-old woman presented with severe left @PHENOTYPICFEATURE$ (in the context of a @DISEASE$) with heavy social and psychological impact on both private and professional life.	false
+77d73e517967b924f5164ed34e7df2881e46f5a9	The @DISEASE$ (PA) comprises unilateral absence or hypoplasia of the pectoralis major muscle and a variable degree of ipsilateral hand and upper @PHENOTYPICFEATURE$.	false
+dc1248f56401b631e026b57e88023c7691d86e86	Multimodality imaging of @DISEASE$ with dextrocardia and @PHENOTYPICFEATURE$.	false
+b0c67560c651cf5a8091cb6f9b374fc5762ead56	Hand and upper @PHENOTYPICFEATURE$ in @DISEASE$: a new proposal of classification.	false
+10e7ff30dd0b14b222ee5a39380fee027e95d8ef	@DISEASE$ (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper @PHENOTYPICFEATURE$.	false
+3b74177086a7a167cce6ee7787c044c3b1ff33dc	Women presenting with anterior thoracic depression, @PHENOTYPICFEATURE$, and subsequent asymmetry are often diagnosed with @DISEASE$ regardless of pectoralis involvement, or are placed in the generic category of breast asymmetry or skeletal dysplasias.	false
+a698e029c5acfd2829e92dfb14447444573f2486	@DISEASE$ is defined by the unilateral aplasia or hypoplasia of the sternocostal head of the major pectoral muscle and is associated with variable ipsilateral thoracic and upper @PHENOTYPICFEATURE$.	false
+6999dbe7cde975906f81eac5a8073c35859ad529	@PHENOTYPICFEATURE$ or amastia with pectoralis major muscle defect in female @DISEASE$ patients always necessitates surgical intervention.	false
+d7d720f5be05060a79382469603fcf566358c519	@DISEASE$ (PA) is a pectoral muscle hypoplasia/aplasia variably associated with ipsilateral thoracic (TA) and/or upper @PHENOTYPICFEATURE$ (ULA).	false
+c65e5ed368dfa734ad46044d9ac5ad9b96dcc288	@DISEASE$ is characterized by congenital and unilateral absence of the pectoralis major muscle and ipsilateral upper @PHENOTYPICFEATURE$.	false
+6f4c25abfb834147a0971b58a0373df2043e903c	Bilateral @PHENOTYPICFEATURE$ infiltration of the Achilles tendons revealing @DISEASE$.	false
+41ae2c5801b370c0b6a16af08711b8a0644f4e5f	Extramedullary myeloid cell @PHENOTYPICFEATURE$ arising in the setting of @DISEASE$.	false
+dbca17b9ab15ea5132ae9bb5dfbeeaa31c0f0b54	Glucocorticoid (GC) therapy occasionally relieves tumor-related fever and promotes @PHENOTYPICFEATURE$ reduction in patients with @DISEASE$ (CMML).	false
+bf84413554fba48d9fbca00f0d3162d3d80ba902	Glucocorticoid (GC) therapy occasionally relieves @PHENOTYPICFEATURE$-related fever and promotes tumor reduction in patients with @DISEASE$ (CMML).	false
+1a02bcc3241da99eae27c4104155e00dbc5140f7	[TIF1?: a @PHENOTYPICFEATURE$ suppressor gene in @DISEASE$].	false
+2fe4fb3a50b864a5b37e45d178dac9cd3464da5a	@DISEASE$ is an aggressive @PHENOTYPICFEATURE$ of early childhood.	false
+f248f985526a11d488f1da7e7b81355d3feacbe5	Dermal Langerhans' cell @PHENOTYPICFEATURE$ in @DISEASE$.	false
+327d375440e4eddffc2edef24b6de49bb9570a09	Mutational analysis of the DOK2 haploinsufficient @PHENOTYPICFEATURE$ suppressor gene in @DISEASE$ (CMML).	false
+2fe4fb3a50b864a5b37e45d178dac9cd3464da5a	@DISEASE$ is an aggressive @PHENOTYPICFEATURE$ of early childhood.	false
+85160be54d4baf8f32df37148393b78836a0250f	Transcription intermediary factor 1? is a @PHENOTYPICFEATURE$ suppressor in mouse and human @DISEASE$.	false
+2078f135843c03ebd2bac3faf96778607812a16d	We report two cases of extramedullary myeloid cell @PHENOTYPICFEATURE$ that arose in patients with @DISEASE$.	false
+7a6bfd7f5340fd74f01a0d65735af816c4010bef	Progressive @PHENOTYPICFEATURE$ are common in patients with @DISEASE$ (FXTAS), with no targeted treatment yet established.	false
+d8b78ef5523a25531210adb2912c70de540d715c	@DISEASE$ (FXTAS) develops in a subset of fragile X premutation carriers and involves gait ataxia, action tremor, Parkinsonism, peripheral neuropathy, autonomic disorders, and @PHENOTYPICFEATURE$.	false
+a054c87a4310b620d0d48b05968532ba28cc81f3	They are also at risk for developing @DISEASE$ (FXTAS), a late onset neurodegenerative disorder characterized by tremor, ataxia, @PHENOTYPICFEATURE$, and neuropathologic features including intranuclear inclusions in neurons and astrocytes, loss of Purkinje cells, and white matter disease.	false
+4122aff4a82c0083b5c258d73a17bac16272f28a	The condition was named @DISEASE$ (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and @PHENOTYPICFEATURE$.	false
+50a6e59a2ce2a5e975f99464c3e068fe8e274b64	@DISEASE$ (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset gait ataxia, autonomic dysfunction and/or @PHENOTYPICFEATURE$.	false
+b43cf9464a11e706e95f253b784e3c2c46411368	The FMR1 mutations can cause a variety of disabilities, including @PHENOTYPICFEATURE$, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the @DISEASE$, in some older premutation carriers.	false
+20b34613e7a3cea7693a09886820f8d3297d2c64	The most frequent symptoms that observed in permutation carriers are mild @PHENOTYPICFEATURE$, ASD, ADHD in children, @DISEASE$ (FXTAS) in older carries, fragile X-associated primary ovarian insufficiency (FXPOI) in women.	false
+4172dd10618c9b439e4bb9f13d0b307985a6bc39	The progressive @PHENOTYPICFEATURE$ in @DISEASE$ or Cogan's syndrome patients may be treated by cochlear implantation.	false
+156c5916db83b01364a3c85f3740b42e884c7391	Profound @PHENOTYPICFEATURE$ in @DISEASE$.	false
+848b962fac0bad13ea299dee5a3be5044663375d	Parameters of importance for the development of thrombosis were investigated in a patient with @DISEASE$ (PAN) and profound @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+53f9997ce40517350cc4830deac9749035e3160e	@DISEASE$: an unusual cause of facial @PHENOTYPICFEATURE$ and swelling.	false
+4481f6c4a199b71064360354cb77dda4bc461345	A patient with @DISEASE$ combined with mental retardation and several congenital anomalies including cleft palate, dwarfism, @PHENOTYPICFEATURE$ and right hydrocele testis is described.	false
+8effb661fb830502256805b6ce34ff891359ed85	@DISEASE$ secondary to @PHENOTYPICFEATURE$: a disease with a changing differential diagnosis.	false
+e77a86e919a79b897127b4a6fdcb60a3d4998ede	@DISEASE$ due to Chagas disease occurred in one patient and a second primary @PHENOTYPICFEATURE$ developed in the larynx in another patient.	false
+7ab98f38cb928a15dba3418ca5719b07b7afcc69	In conclusion, the findings presented strongly suggest that endosonography can contribute to the differential diagnosis of @DISEASE$ and intramural @PHENOTYPICFEATURE$.	false
+718696d392437b58492166b0cb86eaaa87ed5736	@DISEASE$ secondary to @PHENOTYPICFEATURE$ is an uncommon entity, but recognition is paramount given the concern of missing a cancer diagnosis.	false
+120ccfc506b4992a5815910b8d30e7366c2e680e	We report a case of a 37-year-old man, with a background of a rare polyglandular autoimmune syndrome and @DISEASE$, who developed an oesophageal @PHENOTYPICFEATURE$.	false
+23dda78b77a0ae67984516fb9f5016f32553e445	The mean age for patients with malignant @PHENOTYPICFEATURE$ of the oesophagus was 53.5 years (range: 32-75 years), and for @DISEASE$ of the cardia was 36 years (range: 14-58 years).	false
+23419c2321335867d7fcb6d7008a0140f76034d0	There were 20 cases, grouped into six types comprising congenital hypertrophic pyloric stenosis, seven; cleft lip and/or @PHENOTYPICFEATURE$, five; oesophagal atresia with or without tracheo-oesophageal fistula, four; jejunal atresia two and a case each of @DISEASE$ and annular pancreas.	false
+c7696853cc194dd5e691331a6295574a0ebc26c4	The patient, a 69-year-old male, presented with severe dysphagia which was thought to be due either to @DISEASE$ or a @PHENOTYPICFEATURE$.	false
+40a88ce28bfe765dbf328f1fd8d651350213cb45	Specificity and sensitivity in making a diagnosis of @DISEASE$ and @PHENOTYPICFEATURE$ were determined by having unmarked images interpreted by a blinded observer.	false
+7b702d8309fc448ad53a1b6b95a703f593943e65	In the evaluation of patients with the @DISEASE$ syndrome, a @PHENOTYPICFEATURE$-associated functional and organic disorder mimicking idiopathic achalasia in all respects has to be considered.	false
+29f55a411dc56a37782d6be74080cd9eccf36708	Eleven patients with hypopituitarism, medio-@PHENOTYPICFEATURE$ and @DISEASE$ were examined.	false
+bbd22f05476a99dec16d7cb81c3dcf896ad57f63	The facial anomalies included medio-@PHENOTYPICFEATURE$ with hypertelorism and @DISEASE$.	false
+e50363c1e35365d4d614e7734c19a627b3dd808d	We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, @DISEASE$, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild @PHENOTYPICFEATURE$.	false
+8d66c3edc373dad3fba8dd587669498a4b2515cd	We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of @PHENOTYPICFEATURE$, prominent and narrow nose, arched palate, @DISEASE$, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara.	false
+39eac42d0311ef4c8874b9aa12c4b87fc1845063	Our results demonstrated that the new Gd(3+)-DTPA-DG compound (GDD, with @DISEASE$ conjugate aggregation of about 8 nm at 0.02 mg/mL concentration) significantly decreased HT1080 and HT29 @PHENOTYPICFEATURE$ cell numbers.	false
+f9ee699e8919a360174cc2f812ab7778c8c60bd3	Our results demonstrated that the new Gd(3+)-DTPA-DG compound (@DISEASE$, with GDD conjugate aggregation of about 8 nm at 0.02 mg/mL concentration) significantly decreased HT1080 and HT29 @PHENOTYPICFEATURE$ cell numbers.	false
+58032ed903759cc66805bc2872f5aede3afcb8fd	Adjusting for supratentorial malformations and presence of genetic findings, severe @DISEASE$ was associated with @PHENOTYPICFEATURE$ (p=0.049) and PCH (p=0.030),	false
+b250c596f495d6d938614c99048b79693ff652a7	Whole exome sequencing links dental @PHENOTYPICFEATURE$ to an autosomal-dominant mutation in ANO5 gene associated with @DISEASE$ and muscle dystrophies.	false
+b9402f7e7c02a61b2eda127e26ac9808c5babb19	Dual application of @DISEASE$ for both imaging and treatment of @PHENOTYPICFEATURE$ cells could be remarkably advantageous in both the diagnosis and treatment of cancer.	false
+799d4b07e1d2759bbb9fc210134eefd686a3b8dc	@DISEASE$ (SCA7) is caused by an abnormal CAG repeat expansion and includes @PHENOTYPICFEATURE$ associated with visual loss and ophthalmoplegia.	false
+5f682dd9e0c9b0eae447f958e31dab07026da646	Variable expression in a dominantly inherited @DISEASE$ with similarities to @PHENOTYPICFEATURE$ E and spondyloepiphyseal-spondyloperipheral dysplasia.	false
+fe2e28bfe0444be36d722ce7d97f8bdd3aa08dc7	X-linked @DISEASE$ with @PHENOTYPICFEATURE$.	false
+fa674a3d9fd5f7e12aa5d1ba6eb55d7808b9773b	Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare @DISEASE$ characterized by platyspondyly, @PHENOTYPICFEATURE$, and metaphyseal changes.	false
+414dd2b3f5a7666a3788d9f931e3f94cd1b995d6	Platyspondylic lethal @DISEASE$ (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, @PHENOTYPICFEATURE$, and metaphyseal changes.	false
+f4acb31abf4975bbcf9998a42bbaa9fa55f304d1	177170) is an autosomal dominant @DISEASE$ characterized by short?limb short stature, @PHENOTYPICFEATURE$ and early?onset osteoarthropathy.	false
+02908be5b3c8d7b1cb11c9969d7a3dcd61bc75b8	We report on a male with @PHENOTYPICFEATURE$, epilepsy, short stature, and @DISEASE$.	false
+45dd450d6ffe5acd54c44c25d9548167c31908fb	New @DISEASE$ with unique @PHENOTYPICFEATURE$.	false
+4e386b8c1899578f342724db20ab78b989566c7e	Cheirolumbar dysostosis is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ and stenosis of the lumbar vertebral canal.	false
+dac3006de8965414d0a5a2b554f9ff3b04cd40f4	In the neonatal period, @PHENOTYPICFEATURE$ and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic @DISEASE$ with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes.	false
+a7dfb4bda084566760d3eff04b624154e6b3b575	In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by @PHENOTYPICFEATURE$ and hyperostotic @DISEASE$ with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes.	false
+3fae42e553655c40c1110482966a8fd98ead0ad0	Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with @DISEASE$, severe brachydactyly, midfacial hypoplasia and @PHENOTYPICFEATURE$.	false
+b3ddac93a8219398d15358cd0216348d9d70380c	Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with @DISEASE$, severe @PHENOTYPICFEATURE$, midfacial hypoplasia and intellectual disability.	false
+9baf4543d862eaa986f38ce0df07ca4842f904a1	Acrodysostosis is an uncommon @DISEASE$ associated with nasal hypoplasia, midface deficiency, severe @PHENOTYPICFEATURE$, and varying degrees of hearing loss and mental retardation.	false
+accde949d8a24a4efe112574edeb8a2950a13b3e	Acrodysostosis is an uncommon @DISEASE$ associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and @PHENOTYPICFEATURE$.	false
+45d80506cac851942fb8c38d60438c8df5ced2ce	Assessment of gelatinase and @PHENOTYPICFEATURE$ necrosis factor-? level in the vitreous and serum of patients with Eales disease: role of inflammation-mediated angiogenesis in the pathogenesis of @DISEASE$.	false
+6fc5b0952c855f9d17b15b243975179eb1ab9078	Assessment of gelatinase and @PHENOTYPICFEATURE$ necrosis factor-? level in the vitreous and serum of patients with @DISEASE$: role of inflammation-mediated angiogenesis in the pathogenesis of Eales disease.	false
+f96c7ce1bd103a35531f85c37acba51c49435969	The ophthalmologist should be included in the multidisciplinary team for the management of @DISEASE$ in order to prevent @PHENOTYPICFEATURE$ and improve the quality of life of these patients.	false
+b0958a9837080d39a86ebd325aba72fe27c61371	Both have typical features of @DISEASE$ plus additional findings, including mental retardation, @PHENOTYPICFEATURE$, and failure to thrive.	false
+3faab1cbdb257f284ea728421a1bb1f4a7f3019a	Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, @PHENOTYPICFEATURE$/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, @DISEASE$, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura).	false
+ecca5dd6d8767822cd9629f8a59c6a59fe088933	Clinical, physiological and biochemical studies of PGE1 were done in a series of @DISEASE$ patients with @PHENOTYPICFEATURE$, in a foot varix patient with skin ulcer as a non-inflammatory skin ulcer control, and in two diabetics without skin ulcer as no skin ulcer controls.	false
+e1f3288185d6a295301377c04bf411f9038abb73	[Plasmapheresis in the management of @PHENOTYPICFEATURE$ in dysglobulinemia and @DISEASE$].	false
+c68de2ba0b8f475e558a132a414af843d4d9d116	A genetic screening for mutations in @DISEASE$ in children with early, rapid-onset or severe obesity, severe hyperphagia, hypogonadism, intestinal dysfunction, @PHENOTYPICFEATURE$ and skin, postprandial hypoglycaemia, diabetes insipidus, abnormal leptin level and coexistence of lean and obese siblings in the family discovers many genetic forms of obesity.	false
+debad49c7174e588e234b70eab4fa2682ce7b6bc	A genetic screening for mutations in @DISEASE$ in children with early, rapid-onset or severe obesity, severe hyperphagia, hypogonadism, intestinal dysfunction, hypopigmentation of hair and skin, postprandial @PHENOTYPICFEATURE$, diabetes insipidus, abnormal leptin level and coexistence of lean and obese siblings in the family discovers many genetic forms of obesity.	false
+86ed3ed18709fcffd497d33fa7ae6d76a44207e2	The @DISEASE$-hyperglycemic mouse, C57 BL/6J-ob, exhibits @PHENOTYPICFEATURE$ and hyperinsulinemia.	false
+390047f919c49310369288e0563bde04e49fea26	However, @PHENOTYPICFEATURE$ in @DISEASE$ has rarely been reported, and the etiology of short stature is not clarified.	false
+ca006742e235cabc1675bc18fdb0a2e5a91d60e7	Mosaic somatic variants have been lately described in several overgrowth disorders, such as @DISEASE$, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-@PHENOTYPICFEATURE$-hydrocephalus syndrome.	false
+d278f9fa1052ae3106ab8d4bf7fd79c48afe2e1b	Heatstroke, characterized by hyperthermia and @PHENOTYPICFEATURE$, can cause shock, @DISEASE$, and multiorgan failure culminating in death.	false
+9dbfb9225cedd7105318dd48b3ed9b30a11cfc26	Our patient developed the @DISEASE$ (ARDS), nephrogenic diabetes insipidus (DI), distinctive @PHENOTYPICFEATURE$, and hyperglycemia.	false
+568ae771437e0fa1f4478671e709db5239f24f8c	A baby with 'apple peel' @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+f789b635863456d56bc8b8b7b7b4890a236e4525	In @DISEASE$, @PHENOTYPICFEATURE$ were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic.	false
+146fc0b402105e709030d7899b443a416b7bcf62	@PHENOTYPICFEATURE$ and @DISEASE$: response to growth hormone in two cases without growth hormone deficiency.	false
+1cf39e2401527b9cc82c7190b9954487658418cd	The @DISEASE$ is an entity characterized by @PHENOTYPICFEATURE$ and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+80e3f47c1987150e7a7575ebfdb428c83b827ae8	Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, @DISEASE$ (FSGS), T-cell immunodeficiency and @PHENOTYPICFEATURE$ is caused by defects in the SMARCAL1 gene.	false
+c0f73ecb3ae9821db61a4b4bdbfcd586d11571c3	Autosomal-recessive Schimke immuno-osseous dysplasia (SIOD) characterized by spondyloepiphyseal dysplasia, focal-segmental glomerulosclerosis (@DISEASE$), T-cell immunodeficiency and @PHENOTYPICFEATURE$ is caused by defects in the SMARCAL1 gene.	false
+a5e63ce7c54277611be91d8245b92c95900adcd2	Severe SIOD was diagnosed in an 8-year-old boy, who exhibited growth failure, recurrent infection, neutropaenia, spondyloepiphyseal dysplasia, @DISEASE$, T cell immunodeficiency and @PHENOTYPICFEATURE$.	false
+b34ff9a569a9392f25d53e065aaf70b18bccd46e	At the age of 4, he presented with @PHENOTYPICFEATURE$, but multiorgan disorders including deafness, @DISEASE$, epilepsy and dilated cardiomyopathy appeared later in his clinical course.	false
+921fcf470e64e519d3ba5b59eeead9540fdba0ce	This rare, autosomal recessive osteochondrodysplasia is characterised by spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$, T-cell immunodeficiency and progressive renal failure due to @DISEASE$.	false
+ade1e03868d95d8de398953799260381624e6cc8	FG syndrome (@DISEASE$) is an X-linked disorder characterised by mental retardation, hypotonia, particular @PHENOTYPICFEATURE$, broad thumbs and halluces, anal anomalies, constipation, and abnormalities of the corpus callosum.	false
+cb26209e15714bd6b04e01b5898815b39b81c891	A teenage boy with @DISEASE$ (FSGS) presented with progressive dyspnea, @PHENOTYPICFEATURE$, hypoxemia and fatigue 18 days after the completion of a second course of rituximab infusions for calcineurin inhibitor-dependent nephrotic syndrome.	false
+edc4977e621044cf39e7c97865a40296d709a6d0	A teenage boy with focal segmental glomerulosclerosis (@DISEASE$) presented with progressive dyspnea, @PHENOTYPICFEATURE$, hypoxemia and fatigue 18 days after the completion of a second course of rituximab infusions for calcineurin inhibitor-dependent nephrotic syndrome.	false
+5379284e54445133a19e8debd6b5bc6d186fbd3e	Associated anomalies and diseases included 3 cases of immature infant, 2 of myelomeningocele, and single cases of Arnold-Chiari malformation, cerebral palsy, hydrocephalus, laryngomalacia, William's syndrome, Wiedemann-Beckwith syndrome, hypoxia, esophageal hiatus hernia, gastroesophageal reflex, spina bifida, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+38349ab81cd327db9b2ff45d493fa91a13e29de6	The second phase is characterised by peripheral blood @PHENOTYPICFEATURE$ and eosinophilic tissue infiltrates that produce a clinical picture diagnosed as Loeffler's syndrome, @DISEASE$ or eosinophilic gastroenteritis.	false
+7c1b2ebe884951fd116fd7fd1eabffd37da67fe1	Of six cases of @DISEASE$ with a history (greater than 2 months) of symptoms before diagnosis, a prolonged clinical course, and recurrence, all showed peripheral blood @PHENOTYPICFEATURE$, four cases required treatment with steroids, and four cases were recurrent.	false
+4c899bff1ec0e6c63dcdeb13fe73f6a8c5056485	We studied bronchoalveolar cells from six patients with histologically proven AGA and compared our results with those obtained from four patients with @DISEASE$ (CEP), nine nonsmoking patients with bronchial asthma and blood @PHENOTYPICFEATURE$, and 10 healthy nonsmokers.	false
+ba35a17d90f73414ff3a7877affee4d4adc5dc61	@DISEASE$ (ICEP), detailed description was by Carrington in 1969, is a rare eosinophilic lung disease, of unknown aetiology, characterised by peripheral blood @PHENOTYPICFEATURE$, chest radiograph infiltrates and prompt response to corticosteroid therapy.	false
+91c18a1d66ec274f0d05469c6b241134f5c0ef76	@DISEASE$ is an early-onset form of iron storage disease characterized by @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+f89a7c3793b0456911418f333df613a2746bfd9f	A 25-year-old man who presented with @PHENOTYPICFEATURE$ and severe iron overload due to @DISEASE$ and who was initially treated with phlebotomies and androgen substitution.	false
+c91d645cc63382dc4779c6714522c3340d5f13aa	Moreover, @DISEASE$-7 @PHENOTYPICFEATURE$ showed expression of MT1-MMP mRNA, while in vitro cultured JHH-7 cells did not.	false
+a8a629a1583637f1826ab8c3e5956bcaed6b9d97	Tumor growth was suppressed without body weight loss when NVP-BEZ235 was orally administered to @DISEASE$-7 @PHENOTYPICFEATURE$-bearing mice for 11 days.	false
+ea04e9c18b0445b3624e20f4c182d643ede6e7bd	A 49-year-old woman with a history of chronic hepatitis C virus infection and @DISEASE$ was admitted to our hospital because of proteinuria, hematuria, purpura, and @PHENOTYPICFEATURE$ in the lower extremities.	false
+cc0bced37f02ef5ebf576ba70da98b1cc96f02b8	@DISEASE$ (?-HCD) is a rare B-cell @PHENOTYPICFEATURE$ producing truncated IgG lacking the light chain.	false
+fdbfa95b2ea6a71657a2489b4245d220a6ce6cae	Mothers of 151 cases of infants born with @DISEASE$ and mothers of 151 control infants born during the period March 2000 to February 2001 were interviewed about their socioeconomic characteristics and other factors including reproductive history, use of prenatal care, use of tobacco and alcohol, @PHENOTYPICFEATURE$ during pregnancy, and folic acid supplementation.	false
+8da8834ec8961c3a9f47d9f3d440e5890e1b6d10	Other associated characteristics include @PHENOTYPICFEATURE$, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, @DISEASE$, hydrocephalus, and seizures.	false
+6c4c0a4049cbc11dd406fb605ecf3d3815ea0cbc	Maternal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+54921de831c24363f44847b8887e90b0a5b23a1b	@PHENOTYPICFEATURE$ and meningomyelocele and @DISEASE$.	false
+8142ee581b497caf09e2982cd371652a74d3e6ec	A 31-year-old female with severe @DISEASE$ developed florid @PHENOTYPICFEATURE$ after rituximab infusion.	false
+b4d69bdf30eb6f850a93383191ae60e6be10a0dd	Eighty-two percent of the patients with @DISEASE$ had associated neurological disorders and 78% of drug-induced hemolytic uremic syndrome associated with @PHENOTYPICFEATURE$.	false
+37109e1b32bad1125194d36e82f65363924d5507	Noncardiogenic @PHENOTYPICFEATURE$ triggered by intravenous immunoglobulin in cancer-associated @DISEASE$-hemolytic uremic syndrome.	false
+981f8271b0fc078d1b7e542653350813de4cb327	While reduction of @PHENOTYPICFEATURE$ size more than 50% of baseline size in macroprolactinomas treated with DA is a frequent finding in patients with GH-secreting adenomas treated with @DISEASE$ tumor shrinkage only recently is becoming frequent thanks to the availability of depot formulations.	false
+040b764facfc47236281c665bf148013671d0f1a	While reduction of tumor size more than 50% of baseline size in macroprolactinomas treated with DA is a frequent finding in patients with GH-secreting adenomas treated with @DISEASE$ @PHENOTYPICFEATURE$ shrinkage only recently is becoming frequent thanks to the availability of depot formulations.	false
+48b30ea79165e35a7df7efab14720dc7156f6ce3	@DISEASE$ mimicking @PHENOTYPICFEATURE$.	false
+0f40b96a1dd04d1d26aed62c235275e6a2941477	Based on clinical criteria, hereditary forms have been traditionally divided into distinct entities, such as familial amyotrophic lateral sclerosis, hereditary motor neuropathy, @DISEASE$ spinal @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease type 2, also known as hereditary motor and sensory neuropathy II.	false
+7bf8c2cd04a881fa37ddc859769a11247bc2952c	There were no significant differences between the ALS patient groups of the early and terminal stages, @DISEASE$ group, Duchenne type @PHENOTYPICFEATURE$ group and control group.	false
+4b9663db0eb34f810ea76fda970e4f3a1fa6d609	Unlike the Werdnig-Hoffman type of spinal @PHENOTYPICFEATURE$ @DISEASE$ has a protracted, somewhat benign course, necessitating proper evaluation and care of the ocular problems of these patients.	false
+3d0d3007d2e91bd853fcb17a8b341ba368889f3e	Cor triatriatum with @DISEASE$ is a rare congenital @PHENOTYPICFEATURE$.	false
+31a99ef00f5824e86926a3a3d1ac2fa2b97b14de	In 42 patients with @DISEASE$, ten had preoperative @PHENOTYPICFEATURE$.	false
+955e671da5d8216ca23611f7e3e3a789737ad404	Diseases need to be differentiated from Sotos syndrome include fragile X syndrome, arrested @PHENOTYPICFEATURE$, @DISEASE$ and Alexander's disease.	false
+233dacea3bf3ee452d660b50deff581e2d143e25	Here, we present two female siblings with @DISEASE$, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+9e9616af66955b2e502a303f91de7a55ca5901a5	We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of @DISEASE$, optic nerve hypoplasia, @PHENOTYPICFEATURE$, and vocal cord paralysis, thereby expanding the gene-related phenotype.	false
+01bf29fffd39c71389d3d297c9a95ee7ff085574	We hypothesized that children with @DISEASE$ had a greater incidence of intraoperative @PHENOTYPICFEATURE$ and more difficulty with airway management and IV access.	false
+4589fc9823fc9593c2b6fbd53df20e9a102a9cf6	Arthrogryposis multiplex congenita (@DISEASE$) is a spectrum syndrome of multiple persistent limb contractures often accompanied by associated anomalies, including @PHENOTYPICFEATURE$, genitourinary defects, gastroschisis, and cardiac defects.	false
+28c2eee580864ac35ecafc99c5505b261573c67b	@DISEASE$ (AMC) is a spectrum syndrome of multiple persistent limb contractures often accompanied by associated anomalies, including @PHENOTYPICFEATURE$, genitourinary defects, gastroschisis, and cardiac defects.	false
+f50ee2babf14046c9c8db5836f17818d8293be9c	These included characteristic craniofacial abnormalities, @PHENOTYPICFEATURE$, @DISEASE$, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings.	false
+ad456a2650b5e6d713582031b6fe038ba6c048a4	Recent studies indicate that the peripheral blood absolute monocyte count (@DISEASE$) and tumour-associated macrophages may reflect the state of the @PHENOTYPICFEATURE$ microenvironment in lymphomas.	false
+e27abb0c6044b4418063d4e8b5df5fa9957d2b9b	Recent studies indicate that the peripheral blood absolute monocyte count (@DISEASE$) and @PHENOTYPICFEATURE$-associated macrophages may reflect the state of the tumour microenvironment in lymphomas.	false
+a2d769acac87a25c79e2094ba9c180d05038586e	We found that @DISEASE$ was significantly associated with gender, @PHENOTYPICFEATURE$ location, and platelet count.	false
+0037aca2d8ebf51e18fff2809c7e82492b1c7e6c	Aperture maneuver with compelled breath (@DISEASE$) for moving @PHENOTYPICFEATURE$: a feasibility study with a moving phantom.	false
+5581a9008e65a936f5b8e7f84a8a6b0eb9936854	Dynamic changes in @DISEASE$ may serve as a predictive marker for IP severity and a guide for treatment adjustment for both @PHENOTYPICFEATURE$ and pulmonary injuries.	false
+54607c92830d33409d99198d05c04f9ee7ebf463	Five of the 23 patients diagnosed with @DISEASE$ were found to have maxillofacial involvement, eg, presence of @PHENOTYPICFEATURE$, Robin-like sequence, high-arched palate, open-bite deformity, facial muscle weakness, esophageal dysfunction, and limited mandibular opening.	false
+27554ee20fb79488188d5bff19f817bb79135f13	The significance of @DISEASE$ and @PHENOTYPICFEATURE$-associated macrophages in the clinical course of MCL is unknown.	false
+d91d964224a1eb25e5bfebc4ec2255b4a4845ca2	Moreover, administration of @DISEASE$ and AAC (50 mg/kg BW) on S180 @PHENOTYPICFEATURE$ bearing mice reduced the tumor weight by 45.24 % and 35.71 %, respectively.	false
+7434fa688a960e94275ed2f011a58eb2c20da83e	Moreover, administration of @DISEASE$ and AAC (50 mg/kg BW) on S180 tumor bearing mice reduced the @PHENOTYPICFEATURE$ weight by 45.24 % and 35.71 %, respectively.	false
+80ff4e970a6da85b8be236e1365522ee3a4fe076	Furthermore, the ascites @PHENOTYPICFEATURE$ cell viability ratio in @DISEASE$ and AAC groups reduced to 50.89 % and 51.69 %, respectively.	false
+9b93ca2a2c0d5189f8601071a52e02ca0ff2c108	@PHENOTYPICFEATURE$ dysfunction syndrome (HDS) of the cranial nerves, such as trigeminal neuralgia (TN), hemifacial spasm (HFS), and @DISEASE$ (GPN), is commonly managed by microsurgical treatment.	false
+dda78bb0f6388a741b55a14542c73b57576b8070	Trigeminal neuralgia, facial spasm, tinnitus, vertigo, and @DISEASE$ are believed to be the symptoms complex of @PHENOTYPICFEATURE$ dysfunction of the cranial nerve caused by vascular cross compression at the root entry (exit) zone of the appropriate nerve.	false
+4c7d429620762f5c204dd85550dcec80e96e2905	@DISEASE$, cystic teratomas, and cystic neurogenic @PHENOTYPICFEATURE$ had relatively high levels of signal intensities.	false
+2570ba82d374d55abeb142c655cc16fc02013555	@DISEASE$ are listed among the less common mediastinal @PHENOTYPICFEATURE$ and either remain unnoticed and are randomly found or they are manifested with respiratory or thoracic symptoms such as chest pain, dyspnoea, haemoptysis and recurrent thoracic infections.	false
+b393f28a890279ba236eb380fd7f53baad4eec21	@DISEASE$ are benign @PHENOTYPICFEATURE$ of the posterior or middle mediastinum.	false
+db23d4d2a4b3bad683867521b4b8a26c83a72465	In Japanese eyes, sensitivity and specificity with @DISEASE$ to detect early @PHENOTYPICFEATURE$ were similar with MRA or FSM, although the specificity tended to be lower than results in white eyes.	false
+fa10f8052d0824009464fe6476c037306fc669b9	The involvement of a systemic inflammatory response, as evidenced by the Glasgow Prognostic Score (@DISEASE$), is associated with @PHENOTYPICFEATURE$ and poor outcome in patients with non-small cell lung cancer.	false
+f5239cce09e72d0e104e1b988d535e2359e5eb60	For all @PHENOTYPICFEATURE$ eyes, sensitivity with @DISEASE$ (71.7%) was similar to MRA and FSM (75.2%, P=0.8; 77.2%, P=0.5; Fisher exact test).	false
+a2b9e221b4178d168be05f49792046fee9cd1edf	Primary outcome measures were reduction in @PHENOTYPICFEATURE$ scores, global pain scale (@DISEASE$) indices, and neck Oswestry disability index (nODI).	false
+d7df00139be2a25329cf40fb7b8d591682906ed0	Predictive validity was established analysing the relationship of the FPS and @DISEASE$ comparing 60 global involvement subjects with 60 subjects with isolated @PHENOTYPICFEATURE$.	false
+d3d09e931b437986a5338265d5eada7b575e8d98	The diagnostic capability of Moorfields Regression Analysis (MRA) in the HRT2, HRT3 with and without ethnicity correction, and @PHENOTYPICFEATURE$ Probability Score (@DISEASE$) of HRT3 were compared.	false
+05a5567a988be311574ca22e8ba72bc0d8977c85	To assess the ability of Heidelberg Retina Tomograph (HRT) Moorfields Regression Analysis (MRA) and @PHENOTYPICFEATURE$ Probability Score (@DISEASE$) classifications at baseline to predict glaucomatous progression in ocular hypertensive eyes.	false
+6d4f1e368bd8784c59278075302e504c033d1507	It was found that @DISEASE$ might differentiate between glaucomatous and healthy eyes with relatively better sensitivity but worse specificity and represent considerable advantage over MRA in early @PHENOTYPICFEATURE$ cases.	false
+fc5ef6cb92d0df5be23034a5cd5c210002387215	Area under the curve (AUC) receiver operating characteristics, sensitivity and specificity were derived to assess the discriminating abilities of the 3 normative databases, for both Moorfields Regression Analysis (MRA) and @PHENOTYPICFEATURE$ Probability Score (@DISEASE$).	false
+c602d810181b484eebccee17d4f7cee145032608	To compare Moorfields regression analysis (MRA), @PHENOTYPICFEATURE$ probability score (@DISEASE$), and different discriminant functions to predict future visual field conversion of patients with ocular hypertension and early glaucoma.	false
+fc8b6662a72677135b807df974bd815af8076538	To compare Moorfields regression analysis (MRA), Glaucoma probability score (@DISEASE$), and different discriminant functions to predict future visual field conversion of patients with ocular hypertension and early @PHENOTYPICFEATURE$.	false
+31a00cf818fba5c46c2211ecb5bdc18060472bb3	Renal tubular transport abnormalities consisted of @DISEASE$, renal @PHENOTYPICFEATURE$, aminoaciduria, phosphaturia and renal hypouricemia.	false
+0359fadaf9aa6fa81594032845f9cb2a1c09ccd8	Additional kidney manifestations of lithium exposure include @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ef797aa7d973f993990525bd4d46aeac436b6bd	Fanconi?s syndrome was diagnosed by @DISEASE$ along with renal @PHENOTYPICFEATURE$ or aminoaciduria and multiple bone fractures on bone scintigraphy.	false
+77b510587d1a2ca9fa752ce2e574c288f1872db6	In addition to proteinuria, the patient had phosphaturia, aminoaciduria, renal @PHENOTYPICFEATURE$ and impaired renal concentration but no @DISEASE$.	false
+ab5bcac0499019dca0d850be7511f0fd5e81ff6a	The patient had @DISEASE$ with alkaline urine, aminoaciduria, renal @PHENOTYPICFEATURE$, uricosuria, and phosphaturia.	false
+3b06d6adf2fb7a44c0e7dc610ef58fd8edc57a25	Laboratory data revealed the proximal type of @DISEASE$, renal @PHENOTYPICFEATURE$, phosphaturia, generalized aminoaciduria and low-molecular-weight proteinuria.	false
+fd438c4f6b75ecb9a7d6ae784099a2fc4590c294	The two others had hyporeninemic @PHENOTYPICFEATURE$ with type IV @DISEASE$ in the first and hyperkalemia alone in the second.	false
+e889d0d3f4c0b04802a0e63ad8b0e0a485e99230	In two surviving patients, special investigations failed to elicit intrinsic tubular defects such as amino-aciduria, @DISEASE$, hyperphosphaturia or renal @PHENOTYPICFEATURE$.	false
+e70c276f94ede41d267fdc83aac88c444a04a59c	Orofacial signs and @PHENOTYPICFEATURE$ in patients with @DISEASE$: A literature review on this rare progeroid pathology.	false
+a1d6b75574ce01e7a99ac1b354558748228c98d5	The aim of this study was to describe the orofacial signs and @PHENOTYPICFEATURE$, their frequency, and the relationship between @DISEASE$ and other progeroid syndromes via a review of the literature.	false
+3932f5257777cb4714709f7461fb50796358cb13	Employing the clinical signs of diseases the authors compared characteristics of different hereditary ataxias (Friedreich's @PHENOTYPICFEATURE$, familial spastic paraplegia, Marie's disease, olivopontocerebellar atrophy, @DISEASE$, and Charcot-Marie neural amyotrophy).	false
+23fc33774bdd23abec6f4b59b66f5a95fc2df885	Many authors consider Charcot-Marie-Tooth syndrome (CMTS) and @DISEASE$ (RLS) forme fruste or variants of Friedreich's @PHENOTYPICFEATURE$ (FA).	false
+411b161549b60648780f4d3dae6c8321cd70d09e	The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's ataxia, complete picture), Group Ib ("typical" Friedreich's ataxia, incomplete picture), Group IIa ("atypical" Frriedreich's @PHENOTYPICFEATURE$, possible recessive @DISEASE$), Group IIb (heterogeneous ataxias).	false
+85c76c877f5f6c5f78eb6bf9e1de09550616109c	The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's @PHENOTYPICFEATURE$, complete picture), Group Ib ("typical" Friedreich's ataxia, incomplete picture), Group IIa ("atypical" Frriedreich's ataxia, possible recessive @DISEASE$), Group IIb (heterogeneous ataxias).	false
+58231f48ac78908915e83b1f67084c99347689fc	The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's ataxia, complete picture), Group Ib ("typical" Friedreich's @PHENOTYPICFEATURE$, incomplete picture), Group IIa ("atypical" Frriedreich's ataxia, possible recessive @DISEASE$), Group IIb (heterogeneous ataxias).	false
+87756a2d7cb304afa5ed71efc9561e0a39885097	PH1 is an inborn @DISEASE$ of the metabolism in which a functional deficiency of the liver-specific peroxisomal enzyme, AGT, causes hyperoxaluria and hyperglycolic @PHENOTYPICFEATURE$.	false
+c3c4f976837cd8724d275bfd3a31e40204f8ab3c	They also targeted inborn metabolic @DISEASE$ (e.g., familial @PHENOTYPICFEATURE$) whose palliation by portal diversion presaged definitive correction with liver replacement.	false
+79d7aa62e9a68b48e8019e2dbf7380ce75f8f7f9	This study evaluated various factors contributing to volumetric data @DISEASE$ of @PHENOTYPICFEATURE$ treated with GK radiosurgery.	false
+75230bc5cd4668895dc25681ad0ba1449dd96485	Nasal gliomas are benign @PHENOTYPICFEATURE$ results from embryonic developmental @DISEASE$.	false
+6ef192b00ec724a4813e0147e1dc7730edba2b2c	In @DISEASE$-negative disease, @PHENOTYPICFEATURE$ lacking immune infiltration were associated with the poorest prognosis, whereas in ER-positive disease, they were associated with intermediate prognosis.	false
+18941b4d07512d57c06aa9a215d4d4a6b322b223	In ER-negative disease, @PHENOTYPICFEATURE$ lacking immune infiltration were associated with the poorest prognosis, whereas in @DISEASE$-positive disease, they were associated with intermediate prognosis.	false
+a2e20af9ad49600098f9604feadb3816a1e64442	Besides, current researches indicate that activated platelets and @DISEASE$ response affect @PHENOTYPICFEATURE$ progression.	false
+3c52cf6640ceff3783cd99620d91cdc7f53f021d	Inborn @DISEASE$ of bile acid metabolism are rare causes of neonatal @PHENOTYPICFEATURE$ and liver disease in older children and adults.	false
+8d737a6290ad9854cd8cfd2a331ea90bf7716ef8	Nonketotic hyperglycinemia is an autosomal recessive @DISEASE$ of glycine metabolism, characterized by @PHENOTYPICFEATURE$, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death.	false
+d0cd99489069b89824071660524d6df4629379bb	This review discusses recent research regarding associations between @DISEASE$ and @PHENOTYPICFEATURE$ metastasis.	false
+a5715c48347533dbca64022244c837c92fda8ec2	Embryonal rhabdomyosarcoma (@DISEASE$) in children is a very rare @PHENOTYPICFEATURE$.	false
+26ba2ef2d75fef78e10eebc79a82cd3b19a57928	We also explored the use of comprehensive histologic subtyping (@DISEASE$) of @PHENOTYPICFEATURE$ sections to distinguish multiple primaries.	false
+e74a54eada013ed42f80dec210c89cd5d1a4b400	No correlation was found between reactivity to @DISEASE$-treated @PHENOTYPICFEATURE$ cells and the stage and course of the disease.	false
+e26d8449e99224418b7b4769f0be8cc048ca7617	Cytologic specimens were obtained from 10 dogs with @DISEASE$ and 45 dogs with other @PHENOTYPICFEATURE$.	false
+3489b4855dcf2b46d4c2da615513577c2322dda8	Mutational testing suggested that all paired @PHENOTYPICFEATURE$ were multiple primary adenocarcinomas, which was consistent with results from @DISEASE$.	false
+799795a4a1b03b7b2dde8a841e65c8d0effb9de6	Patients were given intradermal injections of 10(6) autologous, irradiated, @DISEASE$-treated @PHENOTYPICFEATURE$ cells.	false
+a6037054bfaaca985337b6636511b8a89ddd76e1	Results indicated that @DISEASE$-treated @PHENOTYPICFEATURE$ cell vaccines were not effective in protecting against tumor challenges in five different syngeneic tumor models.	false
+bfdec38e538499f8f6f73c6e787c2c3166e8a611	Results indicated that @DISEASE$-treated tumor cell vaccines were not effective in protecting against tumor challenges in five different syngeneic @PHENOTYPICFEATURE$ models.	false
+dfdbf2d2ce0fd1b32e8bbcf6ffa6343c5416aec9	Results indicated that @DISEASE$-treated tumor cell vaccines were not effective in protecting against @PHENOTYPICFEATURE$ challenges in five different syngeneic tumor models.	false
+fa6e4097c6ca7d1d61c7c63be897a7755c5226bf	Chondrosarcomas (@DISEASE$) represent a heterogeneous group of disorders ranging from indolent, low-grade @PHENOTYPICFEATURE$ to aggressive, high-grade forms.	false
+d50c22833d062af583316ec3ee673801fd43f976	Patients aged ? 70 years with solid @PHENOTYPICFEATURE$ underwent a CGA after being screened with the @DISEASE$ and VES-13.	false
+5d0cfa1cac46713c3b9afc80330bfbd1c40ca5ea	Combination therapy induced tumor regression at d 4 with CHS plus TNP and d 6 with @DISEASE$ plus SU5416, compared with d 14 with CHS 828 alone (p < 0.05), and complete @PHENOTYPICFEATURE$ regression was seen in nine of 19 animals (47%).	false
+d26d66586887d8e8478d480da6dcff201eeec574	Combination therapy induced @PHENOTYPICFEATURE$ regression at d 4 with CHS plus TNP and d 6 with @DISEASE$ plus SU5416, compared with d 14 with CHS 828 alone (p < 0.05), and complete tumor regression was seen in nine of 19 animals (47%).	false
+a4f711c7532aaa19c671c78fd225c340ec2cd372	Combination therapy induced @PHENOTYPICFEATURE$ regression at d 4 with @DISEASE$ plus TNP and d 6 with CHS plus SU5416, compared with d 14 with CHS 828 alone (p < 0.05), and complete tumor regression was seen in nine of 19 animals (47%).	false
+c142ac3fd4e00d122c0d2c173fceb6b2d99d5845	Combination therapy induced tumor regression at d 4 with @DISEASE$ plus TNP and d 6 with CHS plus SU5416, compared with d 14 with CHS 828 alone (p < 0.05), and complete @PHENOTYPICFEATURE$ regression was seen in nine of 19 animals (47%).	false
+3f7ac8dc42788ceed28be5b84b215a02928ac362	@DISEASE$ therapy was not associated with an increased rate of infection, deep vein thrombosis, or @PHENOTYPICFEATURE$.	false
+eea2b2f278d9582116bb2114a0a7a5fde62d1817	@PHENOTYPICFEATURE$ that spontaneously improve are normal in the newborn, but it is important to identify and institute proper treatment for early @DISEASE$, congenital knee dislocation, and torticollis.	false
+3dacc893f1db6c30e01f846ce2551f9b3f96289c	Total hip arthroplasty (THA) for severe @DISEASE$ (DDH) is a technically demanding procedure for arthroplasty surgeons, and it is often difficult to reduce the hip joint without soft tissue release due to severe @PHENOTYPICFEATURE$.	false
+8de967a8b074424a21eb27a779e071f33b99084e	For the left side, the excess was statistically significant for preauricular tags, cleft lip, fused lip and cleft gum, cleft lip with @PHENOTYPICFEATURE$, @DISEASE$, unstable hip, absent forearm or hand, anomaly of the knee, and skin tags.	false
+3e9334bd238384cc4d7747ab9a75ebd7a09b41d2	New techniques, some adapted from adult practice, provide analgesia for pediatric surgical procedures such @PHENOTYPICFEATURE$ or @DISEASE$.	false
+c28c61cdd8d680410e0b1129db3d5d9d48f8bd45	Although the use of tapered stems with a broaching technique is gaining popularity in straightforward primary surgeries, modular femoral implants are still associated with a number of potential challenges (e.g., @DISEASE$, infection sequelae, and @PHENOTYPICFEATURE$).	false
+fe5211697261078bd2586c1a8f161a0cacb0b070	The paper also discusses screening for @DISEASE$, which the UK national screening council is unsure of the benefit of, the difficulties of detecting all cases of @PHENOTYPICFEATURE$ and problems with screening for the very important congenital cataract.	false
+30e021f8250e9e569f39721bf3cad0aa41814b6b	@DISEASE$ (DDH) is the most common @PHENOTYPICFEATURE$.	false
+62d89c28396b569742608c1982b906b28d1ece4c	Scoliosis, Legg-Calv?-Perthes disease, @DISEASE$, cerebral palsy, @PHENOTYPICFEATURE$, and slipped capital femoral epiphysis were diagnoses included.	false
+32aed0eb06d109a5f65c7e060b3c18b8997c9ec8	It is recognized that limitation of abduction of the hip in the neonate may not represent @DISEASE$ but may represent other etiologies, such as fracture, infection, congenital anomaly, or @PHENOTYPICFEATURE$.	false
+35c5108a3130ee7bd25aa6e81f7472847629ec1a	@DISEASE$ (DDH) describes a broad spectrum of developmental @PHENOTYPICFEATURE$ that are traditionally diagnosed during infancy.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+13fb200fbc98008e9e371fac7c5559053ef338ec	@DISEASE$ has protean extra-intestinal manifestations, and an accurate diagnosis should be sought in people suffering from seemingly unrelated complaints, such as fatigue, anorexia, delayed puberty, short stature, decreased bone density, unusual @PHENOTYPICFEATURE$, unexplained iron deficiency, and infertility.	false
+68ce237c03de7d74f16eed650499f80b65375b54	Abdominal distension, diarrhea, anorexia, constipation, pain in abdomen, vitamin deficiencies, @PHENOTYPICFEATURE$, clubbing and mouth ulcers were more common in patients of @DISEASE$ compared to patients without Celiac disease but the difference was statistically significant only for abdominal distension and pain abdomen.	false
+f56c8603cd7c2afb2fe271ac28ac5d96e05b17b9	Abdominal distension, diarrhea, anorexia, constipation, pain in abdomen, vitamin deficiencies, @PHENOTYPICFEATURE$, clubbing and mouth ulcers were more common in patients of Celiac disease compared to patients without @DISEASE$ but the difference was statistically significant only for abdominal distension and pain abdomen.	false
+18f10be78a47766ffa1308a5cd80368ed8cb4a39	@DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+ece5db323027d17b07bea19288f11d3820c8a9d6	We present an 11-year-old girl, with @DISEASE$, and a 9- month history of itchy and erythemato-@PHENOTYPICFEATURE$ lesions with vesicles and exudation on her nipples and areolas.	false
+70d37b015267f372628794e045d0a9e42c7e7c52	Similarly, heterozygous missense mutations of TRPV4 cause a spectrum of @PHENOTYPICFEATURE$, including hereditary motor and sensory neuropathy type IIC, congenital spinal muscular atrophy, and @DISEASE$.	false
+66ece568a4c1f90c61b145c5a497977d011c6675	The following prevalence of cardinal symptoms were found: coloboma, 16/17; heart defects, 14/18; @DISEASE$, 7/17; retarded growth and development, 11/13; @PHENOTYPICFEATURE$, 5/18; ear anomalies, 15/17 and sensorineural hearing loss, 14/15.	false
+5a5870b2dad4988c1aff8556be119c4f9dd0767e	Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0f33038a68102eab5b46e9cf249ec6ac400ded7a	Except for @DISEASE$, @PHENOTYPICFEATURE$ was not associated with other major craniofacial or extracranial anomalies in this case.	false
+86adaff66c508b16c6a9d06dcaa3c18957c9589b	To present epidemiologic data on the relatively rare malformation @DISEASE$, based on a large collection of material and with special stress on the significance of the so-called CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, @PHENOTYPICFEATURE$, and ear defect with deafness) association.	false
+a598bc1e1850feb5b1166af502646ac8209e7063	@DISEASE$ has been observed at times with @PHENOTYPICFEATURE$, but to our knowledge, the association has not been reported in nonhuman primates.	false
+859e325c721f46fa0ffae9e34576996442f6a8c9	Females with tracheoesophageal fistula/esophageal atresia, or @PHENOTYPICFEATURE$ were more likely to have limb anomalies, while some female subgroups had positive associations between urinary tract malformations, or @DISEASE$ and limb anomalies.	false
+8888119f66a1b200d3a6c9e6fb9bbf450bb195e9	Although clinical features overlap with findings of the original report (@DISEASE$, @PHENOTYPICFEATURE$, maxillary and mandibular hypoplasia, and microtia), microcephaly was present in two of three patients and cognitive impairment was milder in those with head circumference proportional to height.	false
+1325b30ca3ef90ee7fd448943b50d56eb20ec4d5	Huge nasopharyngeal true teratoma with @PHENOTYPICFEATURE$ and lip and unilateral @DISEASE$.	false
+dc95fc790537693900d6c30c2b874b8afa8b6217	We present a case of complete bony fusion of the maxilla and mandible associated with a @PHENOTYPICFEATURE$, hypoglossia, micrognathia, unilateral @DISEASE$, and limb abnormalities as a feature of oromandibular limb hypogenesis syndrome.	false
+d38f644e5127beeac34d04118eb1d7f4e0b8bccf	We identified and characterized the function of a new homozygous FOXE1 missense mutation (p.R73S) in a boy with a typical phenotype (athyreosis, @PHENOTYPICFEATURE$, and partial @DISEASE$).	false
+2d74bd67630cedd794fd1311aec7bee51883f067	Hyaluronic acid (HA) was determined with a radiometric assay in the serum and pleural fluid of 85 patients with pleural effusions, including 15 with @DISEASE$, 32 with other cancer, 31 with nonmalignant inflammatory diseases, and seven with @PHENOTYPICFEATURE$.	false
+9adea531ef49334707eb4b0c5e314ef896ba82c4	A radiometric assay was used to determine HYA in Pf and serum (S) of 126 patients, 12 of whom had rheumatoid arthritis (RA), 22 tuberculosis, 22 pneumonia, 41 lung cancer, 10 @DISEASE$ and 19 @PHENOTYPICFEATURE$.	false
+d3b8da2979d9000861c46f84fd3e15743ef811e4	TFPI activity and antigen in pleural fluids were assayed from patients with @PHENOTYPICFEATURE$ (CHF), pneumonia, empyema, metastatic pleural cancer and @DISEASE$.	false
+c6da3a3f26cd38eab0a0e1d8acb1ad8aaf2bb06f	Expression of GPC3, an X-linked recessive @PHENOTYPICFEATURE$ gene, is silenced in @DISEASE$.	false
+9a7e10ece2829cdf4a24200d7572bba146d050b8	In the present study, we determined IL-8 levels in human @DISEASE$ (MM) effusions and @PHENOTYPICFEATURE$ pleural fluids.	false
+6e54994729d32de4c5008bb59eed19347e9e723b	Aetiologies of pleural effusion included lung cancer (n = 14), tuberculosis (n = 9), breast cancer (n = 7), ovarian cancer (n = 2), @DISEASE$ (n = 1), congestive @PHENOTYPICFEATURE$ (n = 1), peritoneal dialysis (n = 1) and hepatic hydrothorax (n = 1); pleural effusion was undiagnosed in five patients.	false
+e1ef32a4436a3898aff85bc964255e19c38dbe1a	Vanishing @PHENOTYPICFEATURE$ of the colon ascendens due to acquired type II @DISEASE$.	false
+298ab004c6182c3f88455410b232e0fdc3385a77	@PHENOTYPICFEATURE$ neuropathy in a patient with hereditary @DISEASE$.	false
+2070adc6944206513a9663130a548f3294dfa72d	@DISEASE$ (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+dd1afefb263f5bbde00ab021d7ae3289e75e9d97	Features not previously associated with @DISEASE$ included neuromyelitis optica, pulmonary carcinoid tumour, clear cell renal carcinoma, @PHENOTYPICFEATURE$, hepatic cysts, nephrolithiasis, pyelonephritis and meningitis.	false
+087bdd4992846c2abac8a3cd2a5cc350373b4a0f	Three genes were selected for this investigation: TP63, which codes for the @PHENOTYPICFEATURE$ protein p63 and causes @DISEASE$-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome.	false
+8e4401928ff39b4b0978fdcf78636b0bc1972295	Heterozygous loss-of-function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including @PHENOTYPICFEATURE$ with split-hand/foot malformation (HH-@DISEASE$).	false
+2796f0cf8ee0a602ea3eec32a67978e7910cc4a3	We review the scanty literature data on the association of @DISEASE$ and autism and emphasize that the association of progressive macrocephaly and @PHENOTYPICFEATURE$ seems to be an indication for screening for PTEN mutations.	false
+6d7e4d0354525a915b5410b7decf8ee2b2e39add	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) malignant peripheral nerve sheath tumors, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) @DISEASE$, 1/3 (33%) alveolar soft part sarcoma, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) @PHENOTYPICFEATURE$ showed PD-L1 expression.	false
+d9a2a1644a3c68cb54a69d39ff8e88c6dab0d32b	@PHENOTYPICFEATURE$ is a disturbing complication of microvascular decompression (@DISEASE$) for trigeminal neuralgia with an incidence of 1% to 23.8%.	false
+532e82700457edd83fc1ca47d859aa7f43db0cfe	Conductive or @PHENOTYPICFEATURE$ due either to stretching of the eighth nerve or hemotympanum during the operation is among the possible sequelae of @DISEASE$.	false
+3f7635e3e14d3c721b0f73a0d965e32ef1c4d448	Objectives?To evaluate the incidence and discuss the pathogenesis of early postoperative @PHENOTYPICFEATURE$ (CHL) after microvascular decompression (@DISEASE$) for hemifacial spasm (HFS).	false
+641cd0dcbbbb4f2895263ade08c4ca1ca2091e60	The authors used high-resolution MR imaging with 3D reconstruction in patients with constant facial @PHENOTYPICFEATURE$ (Type 2 TN) to determine the presence/absence of neurovascular compression and thus a potential @DISEASE$ benefit.	false
+60ee41fd680a29890e1e1000a4ca7c927f9cd4f4	In terms of PCF morphology, the failure group showed a flatter PCF than the success group, whereas sex, age, affected side, topography of facial @PHENOTYPICFEATURE$, interval between onset and surgery, responsible vessel, location of compression along the nerve, and site of compression around the circumference of the nerve root did not significantly affect outcomes of @DISEASE$ for primary TN.	false
+88b52d7dba2806ba380c2acdf74635382d316f42	In order to better understand the HL incidence in our @DISEASE$ population, we utilized the combination of speech discrimination scores (SDS) and air and bone pure tone threshold averages (PTA) to identify patients with no hearing change, sensorineural hearing loss, or @PHENOTYPICFEATURE$.	false
+bb6a1d5b841dbbfaeed7e27df5bc0218aefced3a	In order to better understand the HL incidence in our @DISEASE$ population, we utilized the combination of speech discrimination scores (SDS) and air and bone pure tone threshold averages (PTA) to identify patients with no hearing change, @PHENOTYPICFEATURE$, or conductive hearing loss.	false
+4ec3c73ad9999e3c8758fe8d21de3a05c452111a	Trigeminal numbness was related to operative findings at @DISEASE$ and predicted postoperative burning and aching facial @PHENOTYPICFEATURE$.	false
+d7ae4072bb90421058e2f520ae018bab01fe0010	Pain in the face following microvascular decompression (@DISEASE$) can be due to persisting trigeminal neuralgia (TGN) or a variety of other facial @PHENOTYPICFEATURE$ syndromes.	false
+e397e6364a047466192aef577122c97415ffd552	Microvascular decompression (@DISEASE$) is a widely accepted treatment for neurovascular disorders associated with facial @PHENOTYPICFEATURE$ and spasm.	false
+8dc90d6f5170e29d0d8c1eb2ee43b4aaf00d18ff	Microvascular decompression (@DISEASE$) surgery for trigeminal neuralgia and hemifacial spasm offers a relatively low-risk opportunity to treat cranial nerve hyperactivity-compression syndromes, which are associated with severe, disabling facial @PHENOTYPICFEATURE$ and spasm.	false
+42cb8ccea4632543aaffce0fe64c62905716c928	We describe a woman with the syndrome characterised by hyperandrogenism, insulin resistance and acanthosis nigricans (the HAIR-@DISEASE$), and an associated insulinoma (islet B-cell @PHENOTYPICFEATURE$), whose signs and symptoms cleared after partial pancreatectomy.	false
+68f10e85d4322b76d7ae4693738ecb0264ba9a50	@PHENOTYPICFEATURE$ in @DISEASE$: a non-pharmacological therapeutic approach.	false
+4f83ec4c924d8b84242bee7d332df32d2315c6fc	Phase two showed significant associations between cumulative exposures to thimerosal and the following types of NDs: unspecified developmental delay, tics, attention deficit disorder (@DISEASE$), language delay, speech delay, and @PHENOTYPICFEATURE$ in general.	false
+287810ff36843d7c805860ef2a445567b6c63d23	Phase two showed significant associations between cumulative exposures to thimerosal and the following types of NDs: unspecified developmental delay, tics, attention deficit disorder (@DISEASE$), @PHENOTYPICFEATURE$, speech delay, and neurodevelopmental delays in general.	false
+ad8d937b25f5c03ea54a7bef58c1df10ffbcc253	Inattention, hyperactivity and @PHENOTYPICFEATURE$ at 2-4 years of age as a predictor for @DISEASE$-ADHD syndrome.	false
+118c03186730e9ae3b7d81afe14c097029430af0	Inattention, @PHENOTYPICFEATURE$ and speech delay at 2-4 years of age as a predictor for @DISEASE$-ADHD syndrome.	false
+ac53e6c6fb86c0018c559f538c0452b4723a3be5	@PHENOTYPICFEATURE$ are a commonfeature of @DISEASE$ (AD).	false
+78b867c9dde3445b7492041b2d1882bde8faafad	@PHENOTYPICFEATURE$ in @DISEASE$: a transcultural perspective.	false
+55fc9aec6bfeeeba2cf03e162069c23d4d13aab8	@PHENOTYPICFEATURE$ in individuals with @DISEASE$ (AD) impose major management challenges.	false
+0165d618ad2a7db07f4085b8d217e4b9d58155c9	@PHENOTYPICFEATURE$, particularly agitation, is common and persistent in patients with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+7c7f62672e0c01f0215a454ddf224712ead5b831	@PHENOTYPICFEATURE$ and neuropsychiatric symptoms are common manifestations of @DISEASE$ (AD).	false
+9bb384a00ba81be0b49346f23cf0e721731b65a8	@PHENOTYPICFEATURE$ are determining factors in handling patients with @DISEASE$.	false
+41c195f41e8ed5f525315b7e6ee8b12eb8b1bc6a	@DISEASE$ should be considered in patients of any age with obscure hepatic or @PHENOTYPICFEATURE$.	false
+b996d38c470713ae8370d8dbc166eb92b40b625d	@DISEASE$ in adults with cirrhosis but no @PHENOTYPICFEATURE$.	false
+73030dd159fdd70244e1974b23420816cbaa4228	@PHENOTYPICFEATURE$ in @DISEASE$ are reversible.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+ce1a389c7409a718df73a36329f1241a5ce498c3	@DISEASE$ must be ruled out in all children with @PHENOTYPICFEATURE$.	false
+452009515e89044f8267603f5fb659da9b7b8296	Four-year follow-up of a @DISEASE$ pedigree complicated with epilepsy and @PHENOTYPICFEATURE$: Case report with a literature review.	false
+ddfcb4189723b0a40c2121c700b60ff295466b33	Roentgenographic @PHENOTYPICFEATURE$ in @DISEASE$ (hepatolenticular degeneration).	false
+c954dda89457c9b7252d203702cc47467e66b115	Roentgenographic @PHENOTYPICFEATURE$ in Wilson's disease (@DISEASE$).	false
+a1ebb68746c2bf14f58babd9de2078efc3e52fe1	@DISEASE$ in a patient presenting with @PHENOTYPICFEATURE$.	false
+e5d8411bcbf73eaee39e9f783fec1d2f1d535c81	There may be a relationship between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9ec2385db6770821f521fd4c619eff6935e6efff	@DISEASE$ should be considered in all children presenting with @PHENOTYPICFEATURE$.	false
+8c085d388ba55c4775f897d10f04c72dc642e1d1	We report on a 15-year-old boy with 1-@DISEASE$ and consequent end-stage liver disease and membranoproliferative glomerulonephritis rapidly progressing to @PHENOTYPICFEATURE$, who successfully underwent combined liver-kidney transplantation.	false
+72b233484b03aa7b8a2446c28595ce93a79f38f3	alpha(1)@DISEASE$ predisposes patients to emphysema, juvenile @PHENOTYPICFEATURE$ and hepatocellular carcinoma.	false
+169802ad1d5681c892b36b4d542762c85ffd8b48	The two @DISEASE$ @PHENOTYPICFEATURE$ observed were an oligodendroglioma and an astrocytoma.	false
+dbeb2370d76dd882434322d2b470e54780370cbf	Martinus Nijhoff Publishers, Boston) to confine treatments with alkylating antineoplastic agents to @DISEASE$ @PHENOTYPICFEATURE$, is discussed.	false
+0bd4ba817c6f635d11a8480bfdb2e55c6490ed04	@DISEASE$ was significantly associated with menopause (P?=?0.025), strong expression of ATM (P?=?0.017) and MRE11 (P?=?0.040) with pre-menopausal SOC, strong expression of MRE11 (P?=?0.016) with low @PHENOTYPICFEATURE$ grade, and strong expression of BRCA1 (P?=?0.015) with early clinical stage.	false
+3c23a48f2fd08b3fba25dc01b847d704ab61a7d9	@PHENOTYPICFEATURE$ of @DISEASE$, a progeroid syndrome.	false
+4921e8f41fd299091a345d3ebf301ee69894b289	The initiation of @DISEASE$ allowed symptoms to be controlled in the three patients with @PHENOTYPICFEATURE$ but without seizures.	false
+190884fc83995ae3f94a938744eb00fd1446ef04	In "secondary" @DISEASE$, the clinical findings have been variable with delayed motor development, hypotonia, cardiomyopathy, @PHENOTYPICFEATURE$, and generalized weakness.	false
+46dedb90a199e252cc81072ab92f0195a1d4ef4e	Two patients with mild variants of the same disorder (@DISEASE$:M) presented with @PHENOTYPICFEATURE$, acidotic coma, and/or poor growth; they primarily excreted ethylmalonate and variable amounts of adipate.	false
+7662b5b69f596fe6dcac3a46937e7ea5a75afb13	Patients may present with an extrapyramidal @PHENOTYPICFEATURE$ as observed in glutaric aciduria type I, without the typical organic aciduria typical of glutaric acidemia type II even in the presence of severe enzyme deficiency, or with renal cystic dysplasia accompanying @DISEASE$.	false
+63c7949843c6ed33ce892a60dbae33b3626f5002	Deficits in the ankle plantarflexor muscles, such as weakness and contracture, occur commonly in conditions such as cerebral palsy, stroke, @PHENOTYPICFEATURE$, @DISEASE$, and sarcopenia.	false
+4f37b11ac9c5713d412c409240c17bf2b0ac5a2b	@DISEASE$ can be associated with several disorders that may be encountered by the pulmonary physician, including restrictive pulmonary impairment, @PHENOTYPICFEATURE$, restless legs, and vocal cord dysfunction.	false
+6037a2be7fd1c7cd8ea8df797859bf4bf3b1de9d	The remainder were for patients with post-polio syndrome, @PHENOTYPICFEATURE$ and mixed disorders, such as @DISEASE$, myasthenia gravis and myotonic dystrophy.	false
+a778b5aadd1f826510f67d964e8b45aaf8599d92	His research led to the description and study of different neurological diseases, such as multiple sclerosis, lateral amyotrophic sclerosis, @DISEASE$, motor ataxia, Parkinson`s disease, Gilles de la Tourette syndrome, epilepsy, visual aphasia and @PHENOTYPICFEATURE$, to name a few.	false
+8dd19ef2ee4d4a7def93ede4b6c1fd8c4cb9d0aa	The imbalance in our @DISEASE$ patients seems to be related to the weakness of ankle dorsi-flexor muscles rather than @PHENOTYPICFEATURE$ or foot deformities.	false
+6d23c2ac7c9a5a7764bae124759cd20e1c561a8e	Based on clinical criteria, hereditary forms have been traditionally divided into distinct entities, such as familial amyotrophic lateral sclerosis, hereditary motor neuropathy, spinal muscular atrophy, familial spinal @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease type 2, also known as @DISEASE$ II.	false
+4145d0c6f897c3d6573c7cb858a091bdf7e026c2	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (@DISEASE$), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+50014262c871798d39c559968c13537beb640567	The authors describe a 14-year-old boy who presented with @PHENOTYPICFEATURE$ caused by a @DISEASE$.	false
+a2e5e1fb7ff9a06576e273859abaa82545661c06	Sellar masses may present with an impairment of pituitary function (hypopituitarism), hormone hypersecretion (@DISEASE$, acromegaly, glucocorticoid excess) or neurological symptoms (@PHENOTYPICFEATURE$, headache).	false
+493fc250ad0690f9367d73c37c9f3a52146132b7	Comparison by the paired t-test of the visual fields before and after treatment revealed a significant positive change (P < 0.01) for all patients in groups 1 and 2 and for one patient in group 3, with disappearance of the scotomas in all cases in group 1 and in two cases in group 2. Visual field defects were detected by means of the Goldman perimeter in only one patient with @DISEASE$ and in two acromegalics, although the computer-assisted perimetry showed that, in 15 out of 17 patients, @PHENOTYPICFEATURE$ was unilateral and in all cases the presence of relative scotomas was concentrated in the upper temporal quadrant.	false
+166d73dc6bb90ecd88c3c9addfda3d155721fcdb	These results indicate that systemic manifestations of @DISEASE$, including @PHENOTYPICFEATURE$, cachexia, and thrombocytosis may be related to the production of IL-6 by malignant cells, and that local gamma-interferon infusion may reduce this production by stimulating antitumoral immunity and/or by directly decreasing the proliferation of malignant cells.	false
+1f751cdc70ae2f74989a838dc57523f0f2e3f868	@DISEASE$ associated with @PHENOTYPICFEATURE$; report of a case.	false
+8aeaed4442012a727fc1b46307691d45919e7fc1	A role for interleukin-6 (IL-6) in @DISEASE$ has been suggested by the clinically presenting symptoms of mesothelioma patients, which include @PHENOTYPICFEATURE$, weight loss and thrombocytosis.	false
+c6b2c4121cefdc7d155a5bb1b47a5726fadb8610	The effect of exposure time on maximum acceptable dose (@DISEASE$) for avoidance of ultraviolet radiation B (UVRB)-induced @PHENOTYPICFEATURE$ was investigated.	false
+68cb2fee0500e15d7a317812ebb4a18e85f277c7	This article discusses the different types of TMD and orofacial @PHENOTYPICFEATURE$ problems that may occur during treatment of obstructive sleep apnea (OSA) with a @DISEASE$.	false
+d1d99800d0f445976b7275abf237ca90e3f2ee81	In this report, we describe two MADA patients with progressive skeletal changes, absent breast development, and @PHENOTYPICFEATURE$ in addition to the classical @DISEASE$ phenotype.	false
+3219ee10a1e728b1c328a79a18302d8cbf2fba1a	Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X @PHENOTYPICFEATURE$ (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, @DISEASE$ caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the ?-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.	false
+0f82c6ef6c7daf869ffd1d0229d2acf88c72bad5	@PHENOTYPICFEATURE$ caused by Cylindrocarpon lichenicola in a patient with @DISEASE$.	false
+806507a9cc953be00166417bbd38c77255e9cbea	@PHENOTYPICFEATURE$ caused by Macrophomina phaseolina in a child with @DISEASE$.	false
+8e5cbce92d94cde9cca118fb58a35adc9fab8f7d	Although complete remission of @DISEASE$ was achieved, fever persisted and atypical @PHENOTYPICFEATURE$ followed by generalized lymphadenopathy along with polyclonal hypergammaglobulinemia appeared.	false
+805bbaa1355f936557af412b32a0c891851f75f4	@DISEASE$ presenting with uveitis, optic disc @PHENOTYPICFEATURE$, and granuloma annulare: Case report.	false
+550027f6f02446cfbb192cf3978194ad1d9ce46a	Remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+631d2f9794d53cc36bb4d12a737ba6b67bb3a711	To conclude from our study, PICCs are most commonly indicated in malignancies that are requiring long-term chemotherapy, such as hematological malignancy, especially @DISEASE$, and solid malignancies, usually osteosarcoma, and these catheters are associated with complications such as infection, thrombosis, catheter blockage, @PHENOTYPICFEATURE$, bleeding, and pneumothorax.	false
+cdbcffd654e7d5745f3df32a3b40b037ee0c10e3	Ocular @PHENOTYPICFEATURE$ is a neuromuscular @DISEASE$ in which the clinical symptoms are restricted to the external ocular muscles with either ptosis or diplopia, or both.	false
+04668f1f344268dbb3258148d718bf0ccdc75bbb	Multiple basaloid cell @PHENOTYPICFEATURE$ with alopecia and @DISEASE$ (systemic lupus erythematosus).	false
+b275790941ec155552a464f398be9e417f089404	Most patients had @DISEASE$ or @PHENOTYPICFEATURE$, and they also had cysts in the tumors.	false
+2c7db1196c070997d19af756baf26e79d5fe151a	@PHENOTYPICFEATURE$ (BA) is a virus-induced @DISEASE$ associated with abnormal DNA methylation patterns that contribute to disease presentation.	false
+ebaad7878076f6134241186279ddec62dc4a7cc4	BAFF overexpressing transgenic mice (BAFF-Tg mice) exhibit features of @DISEASE$, including B cell hyperplasia and @PHENOTYPICFEATURE$, and develop fatal nephritis with age.	false
+b275790941ec155552a464f398be9e417f089404	Most patients had @DISEASE$ or @PHENOTYPICFEATURE$, and they also had cysts in the tumors.	false
+be3b5fb264f6a78bea77f459a28b1c80a4649dc1	It has been described in association with HIV infection, @DISEASE$, policlonal @PHENOTYPICFEATURE$ and less frequently, with hypogammaglobulinemia.	false
+40d76f026054ea1f2490a611e57e7eb460e770fa	Patients with non-@PHENOTYPICFEATURE$ sleep disorder were associated with a higher risk for developing @DISEASE$.	false
+55535c7ecf5527b8ed48ec24c8292aa0c70a385a	This study shows some distinctive characteristics of JMG, such as higher frequency of ocular @PHENOTYPICFEATURE$, benign course, better long-term outcome and lack of association of thymoma and other @DISEASE$.	false
+ef5dc8e431c0485b9774f9d8d9d6cbd8262a00d6	To explore the association between the non-@PHENOTYPICFEATURE$ sleep disorder (NSD) and @DISEASE$.	false
+55278ff307360111872b77903b945a7ac9ba8d44	A growing body of research suggests that, in the clinical application of steroid-responsive encephalopathy, such as for Hashimoto's encephalopathy, limbic encephalitis, systemic lupus erythematosus encephalopathy, @DISEASE$ @PHENOTYPICFEATURE$, and acute disseminated encephalomyelitis, plasma exchange is a safe, and effective option when steroids or other immunosuppressive therapies are ineffective in the short term or when contraindications are present.	false
+49bae3bf3e9374bcd4764425dc4cccff366fee9c	A growing body of research suggests that, in the clinical application of steroid-responsive encephalopathy, such as for Hashimoto's encephalopathy, limbic encephalitis, systemic lupus erythematosus @PHENOTYPICFEATURE$, @DISEASE$ encephalopathy, and acute disseminated encephalomyelitis, plasma exchange is a safe, and effective option when steroids or other immunosuppressive therapies are ineffective in the short term or when contraindications are present.	false
+c3e0098950a12cf3b5cad44be08e424fd19fb195	@DISEASE$ (AAV) is associated with an increased risk of death and @PHENOTYPICFEATURE$ (ESRD).	false
+4a71ed2c326fe572fe937da1de862b86cd74a5c2	We report on a 7-year-old girl with @PHENOTYPICFEATURE$ (MR), @DISEASE$, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms.	false
+0d0a8559e7aff61350810753cfb0e822e5e39564	We report on a 7-year-old girl with severe mental retardation (MR), @DISEASE$, micro-brachycephaly, generalized @PHENOTYPICFEATURE$ with distal hypotrophy of lower limbs, scoliosis and facial dysmorphisms.	false
+ebf23c3f8eeb752fcc16126e470e3b489f2b0b81	Rare inherited A2BP1 deletion in a proband with @DISEASE$ and developmental @PHENOTYPICFEATURE$.	false
+52d1845bc015fdef3201f849b0ff11d7982b511f	Three patients had @PHENOTYPICFEATURE$ with @DISEASE$ features.	false
+5d66fde16dacfeca7c5c3538944d10f382340c66	Accurate automated detection of @DISEASE$ related @PHENOTYPICFEATURE$.	false
+a036d449140670a8e13c4fcd0da91aa2ef2d1b09	He is an albino, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a6947254a83e71b216f87a1181f9f109df4e114d	It occurs in females, causing @PHENOTYPICFEATURE$, @DISEASE$ behavior, and classic hand-wringing motion.	false
+2f820d72dcb1181aa6fc48c15b65361db9026fd9	The main symptoms are psychomotor retardation, epilepsy, @DISEASE$ features, occasionally associated with @PHENOTYPICFEATURE$.	false
+397b006ac582c939c4261ba02847d2136f94f004	It is characterized by @DISEASE$, dementia, ataxia, stereotypic hand movements, hyperreflexia, @PHENOTYPICFEATURE$, and seizures.	false
+adcbfec8c8995e564f9b523a774bd8ce95280f13	It is characterized by @DISEASE$, dementia, @PHENOTYPICFEATURE$, stereotypic hand movements, hyperreflexia, spasticity, and seizures.	false
+f4809754bce001977d9adcaa009362a627192e41	Referencing skills in children with @DISEASE$ and specific @PHENOTYPICFEATURE$.	false
+2546cebf44b566e033886c0bb80cdd6f461cd848	Children with @DISEASE$ sometimes show @PHENOTYPICFEATURE$ or hypoesthesia to touch, pain, and/or temperature.	false
+3cbfd92021bb902e5a09dfcb369518fbeb0eae01	Early postoperative bed-side examinations revealed reliably complications such as cerebral hemorrhage, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+d03565b3e9ece24c2a2ce55a42807996a11ab3c7	The detection rate for cases with hydrops and/or @DISEASE$ was 60%, and without @PHENOTYPICFEATURE$ 33%.	false
+bcbfbb7b7311bca765cf35234b735c0838b129e1	Prenatal karyotype results of fetuses with nuchal @PHENOTYPICFEATURE$, @DISEASE$, and non-immune hydrops.	false
+8fa488fb04cc47d9fc6cf751bbc51429cc8df70e	Huge septated @DISEASE$, severe subcutaneous @PHENOTYPICFEATURE$, and hydrops were observed in all cases.	false
+c824e42b701d6b795e261c65a49b6b7a27b5ab9b	The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently @PHENOTYPICFEATURE$ and/or @DISEASE$ colli.	false
+ff20e8664976c1b9fe9f1d1d90b22f3246044189	Most common presenting signs were: ascites, pleural effusion, scalp @PHENOTYPICFEATURE$, skin edema, pericardial effusion, generalize edema and @DISEASE$.	false
+4af90a7335a766ceb6e53b455e0edbbefd98d998	Most common presenting signs were: ascites, pleural effusion, scalp edema, skin @PHENOTYPICFEATURE$, pericardial effusion, generalize edema and @DISEASE$.	false
+8f0695c662d81b63a7188d13ec1f464454ddd227	High rates of chromosomal aberrations are observed in cases of cervical @DISEASE$, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and @PHENOTYPICFEATURE$.	false
+9a39df981e8e2d5bb03493a1d01ebf58d037da31	High rates of chromosomal aberrations are observed in cases of cervical @DISEASE$, @PHENOTYPICFEATURE$, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities.	false
+04260f5401692dadcdb1b8a30dd0c12beab2f3ac	Examples of fetal abnormalities in which we have used this technique include acardia, @PHENOTYPICFEATURE$, nuchal @DISEASE$, and arthrogryposis.	false
+38a75e8f60872571de5e071d32da155de879ba22	The most frequently detected ultrasound abnormalities were: intra uterine growth retardation (IUGR: 50%), poly-hydramnios (42.5%), @PHENOTYPICFEATURE$ (42.5%), cardiac defects (30%), facial abnormalities (37.5%), meningomyelocele (32.5%), digestive abnormalities (32.5%), urinary tract abnormalities (27.5%), lymphangiectasia and @DISEASE$ (15%), and single umbilical artery (12.5%).	false
+43e670219dbc0711febae405cd38910485999dcd	The most frequently detected ultrasound abnormalities were: intra uterine growth retardation (IUGR: 50%), poly-hydramnios (42.5%), limb abnormalities (42.5%), cardiac defects (30%), @PHENOTYPICFEATURE$ (37.5%), meningomyelocele (32.5%), digestive abnormalities (32.5%), urinary tract abnormalities (27.5%), lymphangiectasia and @DISEASE$ (15%), and single umbilical artery (12.5%).	false
+d83333c99731c8069319db1a6a3f491c20093292	[@DISEASE$ colli (cervical neck @PHENOTYPICFEATURE$) as an ultrasonographic parameter of fetal chromosome anomalies].	false
+fccad9889e2b90481a91060e5f4a13d1881b787a	We report on the development of unilateral @PHENOTYPICFEATURE$ followed by ipsilateral @DISEASE$ exudation and shallow retinal detachment in the posterior pole and inferior retina.	false
+df4bf9071f05738473ccdfa1c21b5827ec836cbb	Unilateral @PHENOTYPICFEATURE$ preceding @DISEASE$ in a girl with Parry-Romberg syndrome.	false
+7e86657972cf8daad9c39db7c50db88c67dd54e1	These malformations included @DISEASE$, congenital cataract, congenital glaucoma, hypoplastic optic nerve head, idiopathic @PHENOTYPICFEATURE$, coloboma with microphthalmos, and retinoblastoma.	false
+dbe7c5d13ff3d2e2a69a801c09e8a6dac387fb44	@DISEASE$ (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and @PHENOTYPICFEATURE$.	false
+67d097ab045c1ddbe7c7fbe33ff10d396a5a7892	XX female gonadal dysgenesis (@DISEASE$) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and @PHENOTYPICFEATURE$.	false
+117c86401766c354ca54d1c6a37cae931526d04b	XX female gonadal dysgenesis (@DISEASE$) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and @PHENOTYPICFEATURE$ as a result of streak gonads.	false
+5bfd6ec3d2731361bfc6850e8fe0570e676bc9cc	@DISEASE$ (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and @PHENOTYPICFEATURE$ as a result of streak gonads.	false
+a99f5d732559a32204360efc93719b0d5f3bbb44	@PHENOTYPICFEATURE$, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with @DISEASE$.	false
+6410a90069a708186c28c7e686edad572b14436b	@PHENOTYPICFEATURE$ and @DISEASE$ associated with massive heparan sulfaturia: report of one case.	false
+b45d4e5dacea599ea42675332606526deae4e083	The present case indicates that these conditions may be combined, which is of importance when dealing with infants with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2566964c9d15986e512e24fb239388435710220e	This is a recently-named entity comprising @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$ and kyphoscoliosis, skeletal dysplasia, and developmental delay.	false
+03329e587849992cb29598b9013c723ccc589c8d	This is a recently-named entity comprising @DISEASE$, @PHENOTYPICFEATURE$, congenital heart defects and kyphoscoliosis, skeletal dysplasia, and developmental delay.	false
+52430c19d71f025b09de097f434d92a9bf4dcf3f	[Bilateral @DISEASE$, @PHENOTYPICFEATURE$, hypertelorism and holoprosencephaly in a microcephalic child.	false
+5e086d914f0df796b5160ceeda747e724f3353be	[Bilateral @DISEASE$, corneal opacity, @PHENOTYPICFEATURE$ and holoprosencephaly in a microcephalic child.	false
+d7df653f8c2fec5f1f4ad26cc572a2d2e476fa9f	@DISEASE$ is frequently associated with visual impairment due to optic nerve damage, @PHENOTYPICFEATURE$, cataracts and amblyopia.	false
+7dea6fb1261dee80f793a28c6514476bb7fdd42e	Noninfectious causes include congenital nasolacrimal obstruction, ocular @PHENOTYPICFEATURE$, @DISEASE$, and uveitis.	false
+c991038be2b135d768a48b9bb98fb5cbc3d571fe	@DISEASE$, @PHENOTYPICFEATURE$, mental deficiency, and cardiac anomaly following attempted abortion.	false
+822408878b0c7e0da7acb3baf9f9a5d122199e63	@DISEASE$, deafness, mental deficiency, and @PHENOTYPICFEATURE$ following attempted abortion.	false
+be5b42c111bfdf2d0f2d11e2415bb7b65859d943	One sib had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e6c4b20a55ca8043c6a1c547f7f7d6e367b232cd	Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas @PHENOTYPICFEATURE$, microcornea, @DISEASE$, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported.	false
+46c0983270ca235bcd715e8f6844c21b6e6844a6	Ophthalmologic anomalies include epicanthal folds, @PHENOTYPICFEATURE$, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, @DISEASE$, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported.	false
+fa090ec94127527e36535d1177567dccc2313f5f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: @DISEASE$; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+effc008b953f962d6c158b6d4d46e6d78eedf86e	The gene (SLC12A6) is located on chromosome 15q14, a region that has previously shown linkage with bipolar disorder, schizophrenia, rolandic @DISEASE$ epilepsy, @PHENOTYPICFEATURE$ and attention deficit/hyperactivity disorder.	false
+ffcc729d566ee1d6d708ff34263f7cd20c1d07bd	@DISEASE$ (AD) is associated with @PHENOTYPICFEATURE$, yet the underlying pathophysiology of this disease and the optic nerve disorder remain poorly understood.	false
+88fcb5c2859b6c62a34139e499e7eadceca032bf	A rare form of @DISEASE$, caused by autosomal-dominant @PHENOTYPICFEATURE$, affects carriers with 100% certainty and at a younger age specific to their mutation.	false
+4d7437449486ebb65d800ae9ec1cdff7d08e1fe0	Among these conditions are examples such as cardiovascular decay, neurological disorders including @DISEASE$, and @PHENOTYPICFEATURE$, all of which have significant unmet medical needs.	false
+b8d8b51cf2d1cdf6e47d4889e025bc25660e7f71	These benefits include among others various types of cancer, cardiovascular disease, @DISEASE$/dementia, myopia and @PHENOTYPICFEATURE$, diabetes and multiple sclerosis.	false
+e80c2f6b2052330c55281ee22ea1f8d1f545eb12	Brain glucose and energy @PHENOTYPICFEATURE$ in sporadic @DISEASE$.	false
+b0228d7e45954b282363a90559b34f794100f8b2	Exclusion criteria were @PHENOTYPICFEATURE$, illiteracy, stroke, @DISEASE$ and psychiatric disorder.	false
+4d28dc115c259ae4211188a32977b84e627a1395	Functional assays demonstrated that @DISEASE$ significantly inhibited @PHENOTYPICFEATURE$ cell proliferation and tumorigenesis both in vitro and in vivo with no observed side effects.	false
+fd1a6af0bf53380e2ab227e50e73ab1176af5125	Diseases in which such "combination" therapy might lessen the rate of decline include @DISEASE$, Parkinson's disease, multiple sclerosis, @PHENOTYPICFEATURE$, and diabetes.	false
+ed70d1f09d184f61eaceaaf66ddbf1939257b0e8	Melatonin and abeta, @PHENOTYPICFEATURE$ and @DISEASE$: same disease, different outcomes?	false
+59f6223da4db2338b64e12a73499e85a6137c65f	Single nucleotide polymorphisms of TNMD have been associated with obesity, @PHENOTYPICFEATURE$, and @DISEASE$ in patients.	false
+c34abd93acd35065cb6f7c09bdf639d608fe85cb	The two male probands presented with @DISEASE$ phenotype and @PHENOTYPICFEATURE$.	false
+2140cd6fc72eab4aad1ab30a5d45545905ef8caf	enhanced RNA and glycoprotein synthesis, hexosemonophosphate shunt (@DISEASE$) activity, release of oxygen metabolites (O-2 and H2O2), pinocytosis and tumor cytostasis, whereas no effect on schistosomula killing and @PHENOTYPICFEATURE$ cytolysis could be observed.	false
+ea424b9df1e1b84696bb6cb8c2048b8911511cdf	enhanced RNA and glycoprotein synthesis, hexosemonophosphate shunt (@DISEASE$) activity, release of oxygen metabolites (O-2 and H2O2), pinocytosis and @PHENOTYPICFEATURE$ cytostasis, whereas no effect on schistosomula killing and tumor cytolysis could be observed.	false
+055995081392049516877e803fe68b33d3e1d608	Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), hereditary mixed polyposis syndrome (@DISEASE$) and PTEN hamartoma @PHENOTYPICFEATURE$ syndrome (PHTS).	false
+8a9e7266b0f2a18540f17a5e55bbb8d3758c6d17	Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers' syndrome (PJS), @DISEASE$ (HMPS) and PTEN hamartoma @PHENOTYPICFEATURE$ syndrome (PHTS).	false
+a1407414e7ce1493955eb0e5b16a7d9b13e69119	Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma @PHENOTYPICFEATURE$ syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as @DISEASE$.	false
+45d9228cde252a93af99ded53dc6eeef03474563	E8 increased RNA, protein, and glycoprotein synthesis, hexosemonophosphate shunt (@DISEASE$) activity, release of oxygen metabolites (O-2, H2O2), pinocytosis, phagocytosis, and tumor cytostasis, whereas no effect on prostaglandin E (PGE) release, schistosomula killing, and @PHENOTYPICFEATURE$ cytolysis could be observed.	false
+d4a60cc41cf24b985d8e7a9b849cb032be6ce74d	E8 increased RNA, protein, and glycoprotein synthesis, hexosemonophosphate shunt (@DISEASE$) activity, release of oxygen metabolites (O-2, H2O2), pinocytosis, phagocytosis, and @PHENOTYPICFEATURE$ cytostasis, whereas no effect on prostaglandin E (PGE) release, schistosomula killing, and tumor cytolysis could be observed.	false
+bd5d577237604090dc9b8f8c82c9ea5656fbf49c	Cardiovascular involvement and bilateral @PHENOTYPICFEATURE$ of long bones strongly suggested @DISEASE$, confirmed after biopsies of the pericardium and bone.	false
+e53a6c94223453dbea1368f1f3a62973afd51d8a	One of the cousins (case 1) had interrupted aortic arch (IAA) type B, while the other one (case 2) had @PHENOTYPICFEATURE$ (TA) with atrioventricular canal defect (@DISEASE$).	false
+b9395b1570d6616707c1b36069b9ee688081c569	One of the cousins (case 1) had interrupted aortic arch (IAA) type B, while the other one (case 2) had @PHENOTYPICFEATURE$ (TA) with @DISEASE$ (AVCD).	false
+e63b0986075479e17d56705c17d15968bd77e8d8	Double-outlet right atrium is a rare congenital @PHENOTYPICFEATURE$ previously described in association with @DISEASE$.	false
+b141f6c46dcd5b23ff73eb48c791409acfd15a84	@DISEASE$ (AVCD) constitute the predominant @PHENOTYPICFEATURE$ in Down syndrome.	false
+276bdca3349fcf8cdc6276dc3549e05c3d04dc48	Atrioventricular canal defects (@DISEASE$) constitute the predominant @PHENOTYPICFEATURE$ in Down syndrome.	false
+4b050ed0f27abf6a5c5645d368ac98b9e5e7aa97	The atrioventricular canal defect (@DISEASE$) is one of the @PHENOTYPICFEATURE$ most frequently associated with extracardiac anomalies.	false
+e8ff8d7b9e7b3c2c6689101a2d45af67ad2b7882	The @DISEASE$ (AVCD) is one of the @PHENOTYPICFEATURE$ most frequently associated with extracardiac anomalies.	false
+91448f8f11579757e437103c3b289ea9632685c6	We describe the first case of @PHENOTYPICFEATURE$ with @DISEASE$ to be diagnosed prenatally by fetal echocardiography.	false
+f9ffb1de8f047286037ab07e86e420069b0d9b22	@DISEASE$ and hypoplastic left heart syndrome as discordant @PHENOTYPICFEATURE$ in twins.	false
+9c3983627b84a5c8605a7cb4067bdb9e499a8465	However, there is correlation of such parameter with right @PHENOTYPICFEATURE$ and @DISEASE$.	false
+844e9d1d35dbfd215b74fc526d3608d06b13bc84	The @DISEASE$ (AVCD) is a @PHENOTYPICFEATURE$ (CHD) frequently associated with extracardiac anomalies (75%).	false
+a3e8d2d723a3d4e1d7d591a2b2595a56feb9e76d	The atrioventricular canal defect (@DISEASE$) is a @PHENOTYPICFEATURE$ (CHD) frequently associated with extracardiac anomalies (75%).	false
+2deb9d3fe6d73c4fd1f3cc235c5973656ca3e223	Abnormalities of the cushion tissues lead to atrioventricular septal defects (@DISEASE$) and @PHENOTYPICFEATURE$ (TA).	false
+4032432747079e4c871503b9166251ce72a1cf37	We suggest mass spectrometry of serum acylcarnitines as a rapid screening test that should be included early in the diagnostic work-up of patients with recurrent @DISEASE$ @PHENOTYPICFEATURE$ and myalgia.	false
+04a197d85cdc3f501e6070867a02a66b4e293b96	Both severe @DISEASE$ and hypothyroidism may affect brain function and cause a change in consciousness, as seen with a thyroid storm or myxedema @PHENOTYPICFEATURE$.	false
+d1b57d5bee0049ccae3555828793c37a8f209b42	We present the unusual case of vitiligo associated with @DISEASE$ in a patient who presented to the hospital because of hyperdynamic @PHENOTYPICFEATURE$.	false
+7ac6ed05efaf1c7557842050cb8f2e8236b2576e	[A case of @DISEASE$ with type A gastritis in an extremely elderly patient with dementia and @PHENOTYPICFEATURE$].	false
+46ff88a5b73e4a074400cce7337b8cadd0d591c1	Although vitamin malnutrition is uncommon in developed countries, vitamin deficiency syndromes, such as @DISEASE$ or Wernicke's encephalopathy are still relevant differential diagnoses.Some psychopharmacological drugs may additionally change the nutritional habits of the patients in an unfavorable way leading to weight gain and @PHENOTYPICFEATURE$ and the risk for further psychiatric problems.	false
+ceee03638308432ff6893f2a361cd24b3f171846	A case of an IgA deficient child who developed several @PHENOTYPICFEATURE$ namely, celiac disease, @DISEASE$, autoimmune thyroiditis and autoimmune thrombocytopenic purpura is reported; the possible connections and etiology of these phenomena is briefly discussed.	false
+583f01bb512683f10ea487bbaf689ea2e637b75a	A vast compendium of significant associations arose, including farming, occupation as a firefighter, occupation as a hairdresser, exposures to chemicals or pesticides, overweight and @PHENOTYPICFEATURE$, patterns of alcohol intake, @DISEASE$, ankylosing spondylitis, gene promoter methylation, and polymorphisms.	false
+73d035c8a72c5e6984f7c355e45222487e721282	ATTR amyloidosis may be associated with @PHENOTYPICFEATURE$ of wild-type transthyretin (previously called @DISEASE$) or with hereditary variants in the transthyretin gene.	false
+c4091942c26706aa361ae09a2cf2ccd8cdc38b24	Some patients with @DISEASE$ exhibit neurologic features including learning disability, @PHENOTYPICFEATURE$, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1).	false
+5b13219282b502fb33f06536794d00bebbf9ecf5	Some individuals with @DISEASE$ have a broader phenotypic spectrum with neurological features, including @PHENOTYPICFEATURE$ and peripheral neuropathy.	false
+a7f21d1effad773b41851c4afd411a70dcbcc6ba	Compound heterozygous mutations in HSD17B4 have also been reported in two sisters diagnosed with @DISEASE$ (MIM # 233400), who presented in adolescence with ovarian dysgenesis, hearing loss, and @PHENOTYPICFEATURE$.	false
+14d49855dff7bf7a4f5b3ec74d0059345b799b27	The high incidence of neurologic anomalies suggest that @PHENOTYPICFEATURE$ or mental retardation may not be just coincidental findings, but pleiotropic manifestations of @DISEASE$.	false
+c91d2792f9655f75e2fd1bfa55eedaa02da42866	The high incidence of neurologic anomalies suggest that ataxia or @PHENOTYPICFEATURE$ may not be just coincidental findings, but pleiotropic manifestations of @DISEASE$.	false
+d850c38a260c889c6ec816d152c3c0614908814c	The association of @PHENOTYPICFEATURE$ and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of @DISEASE$, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.	false
+d8f0a1821130ce2496a18b5a84fe2daef1698bce	The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type @PHENOTYPICFEATURE$ and as a variant of @DISEASE$, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.	false
+f309ed7a16fe5c7efc3196b02a37b9d8ad5cf6db	The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of @DISEASE$, but we suggest the use of a separate category of @PHENOTYPICFEATURE$ with hypergonadotropic hypogonadism.	false
+a5b82d3839d872aa733644c1425c77c3b26fbe1f	@DISEASE$ (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and @PHENOTYPICFEATURE$, but the frequency and the spectrum of neurologic features of this condition are poorly defined.	false
+73ed0b6333624d604f8061ce1c1d96517db790a4	Moreover, these data further suggest that the trigger for @DISEASE$ in initiated BRAF(V600E)-expressing @PHENOTYPICFEATURE$ cells is not simply a surfeit of signals from oncogenic BRAF but an insufficiency of WNT ? ?-catenin ? c-MYC signaling.	false
+51181c8abb98571ac7314b7d72e186c67f15e54b	@DISEASE$ associated with basilar impression and @PHENOTYPICFEATURE$: a case report.	false
+bcca258d0522ab8346c4120ee4d3d87338e66d06	Although @PHENOTYPICFEATURE$ @DISEASE$ in children less frequently than adults, they are not as rare as once believed.	false
+f0d23b73694e44781773eb90f9185a1362d99eff	Neutropenia @DISEASE$ most often; anaemia and thrombocytopenia occur less frequently, as do @PHENOTYPICFEATURE$ and stomatitis.	false
+208495f4927af3832a1871e61b63187e4348fe0b	Long-term follow-up showed that variable @PHENOTYPICFEATURE$ and lower limb spasticity often @DISEASE$, together or separately, with no obvious relationship to age at diagnosis and compliance with treatment.	false
+b69a1d9c6cc6a4b69353cfa3b79418aa1bc02f38	The aim is to diagnose and detect brain degenerative disorders as early as possible to help stroke survivors obtain early treatment benefits before significant @PHENOTYPICFEATURE$ @DISEASE$.	false
+145a117d4c19951a0f5dd39e8697c3ef18441e2c	These data suggest that a duration-related apoptosis-induced neuronal loss @DISEASE$ in type 1 diabetes associated with @PHENOTYPICFEATURE$.	false
+21a478856f25e762d24c1c1ff92a70eab173bd61	Globally, a small proportion of @PHENOTYPICFEATURE$ episodes and pneumonia deaths @DISEASE$ in HIV-infected children.	false
+c2d69f6184f93235d91906e78ba7d7573b911bad	Ideally, disease modifying therapies for Alzheimer disease (AD) will be applied during the 'preclinical' stage (pathology present with cognition intact) before severe neuronal damage @DISEASE$, or upon recognizing very mild @PHENOTYPICFEATURE$.	false
+6e36f920474dd40bc5d1c16ce7c0c319de251319	Initial symptoms of the H5N1 influenza are: fever greater then 38 degrees Celsius, mild cold, cough and shortness of breath, practically all patient have viral pneumonia, later secondary bacterial infection @DISEASE$, mild to severe respiratory distress, diarrhea, vomiting and @PHENOTYPICFEATURE$.	false
+57deed353368a5e4c34a992b9b1410704639675a	Initial symptoms of the H5N1 influenza are: fever greater then 38 degrees Celsius, mild cold, cough and shortness of breath, practically all patient have viral pneumonia, later secondary bacterial infection @DISEASE$, mild to severe respiratory distress, diarrhea, @PHENOTYPICFEATURE$ and abdominal pain.	false
+8dfec753a188cb265a58e8a52107be62af141353	Previous study demonstrated that WD with @PHENOTYPICFEATURE$ (WD-@DISEASE$) was limited to the posterior part (splenium).	false
+97393c55cb42ce7f0a28b594e02d5815a854bde2	Furthermore, the velocity of the prepontine CSF flow tended to decrease in the MSA-C patients compared with the @DISEASE$ patients, suggesting that this particular CSF flow analysis may be a new surrogate marker for differentiating both types of @PHENOTYPICFEATURE$.	false
+dbe2a72272728c559548ef0e5d1802a7433f0acd	Patients presented with ID, @PHENOTYPICFEATURE$, MIC together with @DISEASE$ are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.	false
+a5a486d4b0774830dc8ec056379ed4919bb45859	Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8c9410bbd6d816665e73c452b81ed41a4f00b767	Here, we used whole exome sequencing, and a targeted capture panel of syndromic @DISEASE$ known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and @PHENOTYPICFEATURE$.	false
+f8130b79b58d4b2966a198f106cd1687be574110	Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with @DISEASE$ observed upon autopsy, and 34 children with CCA and @PHENOTYPICFEATURE$.	false
+f8390ecb3d332f2ec98214937684481e45151fdc	Here, we report on the case of a patient with reversible cerebellar ataxia related to extrapontine myelinolysis without hyponatremia after treatment with cisplatin-based chemotherapy for @DISEASE$ and discuss the literature on @PHENOTYPICFEATURE$ in patients who underwent recent chemotherapy for malignancy.	false
+3384a2ccaa7e7942724ebcc759bd447164c993a8	Here, we report on the case of a patient with reversible @PHENOTYPICFEATURE$ related to extrapontine myelinolysis without hyponatremia after treatment with cisplatin-based chemotherapy for @DISEASE$ and discuss the literature on cerebellar ataxia in patients who underwent recent chemotherapy for malignancy.	false
+cc5c44ad946fadefecd95876508b274194b24e5e	Patients with cerebellar damage often present with the cerebellar motor syndrome of dysmetria, dysarthria and @PHENOTYPICFEATURE$, yet cerebellar lesions can also result in the cerebellar cognitive affective syndrome (@DISEASE$), including executive, visual spatial, and linguistic impairments, and affective dysregulation.	false
+92cc60c8d6f3522a31a92d7ba79b4cc732f0fae7	On the basis of the neuropathological identity of SCA 6 with @DISEASE$, and of the effect of gabapentin and pregabalin on recombinant VDCCs the authors put forward the hypothesis that these drugs might prove beneficial in SCA 6, as the @PHENOTYPICFEATURE$ would be expected to improve.	false
+8047a696bb8ec50c47e503ab55d18e0c056970a0	To describe a new spinocerebellar @PHENOTYPICFEATURE$ (SCA48) characterized by early cerebellar cognitive-affective syndrome (@DISEASE$) and late-onset SCA.	false
+0ec2bbb6ca8c862b1a11e36e36a839ac7c0a9f72	Two casuistic are studied, one with necropsies material and another with @DISEASE$ patients alive, on which CCA was frequently associated with other CNS malformations, in order to establish the circumstances in which the @PHENOTYPICFEATURE$ have been observed.	false
+98c417d85c3b468506511ba58536f48d8d8ccd73	In particular, histology (n=18), cytology (n=14) or clinical-imaging follow-up data (n=86) demonstrated 4 adenomas, 29 cysts, 3 focal steatosis, 25 hemangiomas, 1 focal @PHENOTYPICFEATURE$, 5 fibrotic lesions as well as 13 regenerative nodules, 6 dysplastic, 14 hepatocellular carcinomas (HCC), 17 metastasis and 1 @DISEASE$.	false
+e05b1f05de9c22636c6f7065ac491232e0701ad1	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and @PHENOTYPICFEATURE$.	false
+2b53e491095b5ac024f2503dfaa9f9a951f8c9a0	We therefore assume that there are large numbers of patients with obesity and obesity-associated dependency syndrome who drive the cost of @DISEASE$ and did a retrospective analysis of the correlation between hospitalization rates for lymph @PHENOTYPICFEATURE$ and obesity and MLD prescription rates in outpatients.	false
+148b10cb3837645c32f6ac4b4b40dddea8bd8838	We therefore assume that there are large numbers of patients with obesity and obesity-associated dependency syndrome who drive the cost of MLD and did a retrospective analysis of the correlation between hospitalization rates for lymph @PHENOTYPICFEATURE$ and obesity and @DISEASE$ prescription rates in outpatients.	false
+bf232efffccb3b53c178b8dd6045ecf2368eae8e	Of 35 SSc patients with @PHENOTYPICFEATURE$ hands, 20 were treated with @DISEASE$ according to the Vodder technique once a week for 5 weeks (intervention group), and 15 served as the observation group.	false
+3ca80482b645cefc3d518a1cdde630dfb1c4ca62	In SSc, @DISEASE$ significantly reduces hand @PHENOTYPICFEATURE$ and improves hand function and perceived QOL.	false
+e1ad5d2e39d502273f097325fb6769e08d04a42f	The study showed that both groups obtained a significant reduction in @PHENOTYPICFEATURE$ and that @DISEASE$ did not contribute significantly to reduce edema volume.	false
+7162c600632465e39a36081047f41fd9f9b29453	The study showed that both groups obtained a significant reduction in edema and that @DISEASE$ did not contribute significantly to reduce @PHENOTYPICFEATURE$ volume.	false
+b594daa0aaaf2a3f2a9e8332f2db4bc65f030530	The combination of @DISEASE$ and PNF induces potent synergistic effects on @PHENOTYPICFEATURE$ volume, shoulder range of motion (ROM), pain, and depression in patients with lymphedema.	false
+2e1f0b8fcef64d7afc03cc871d2705bcca2f152c	To investigate the efficacy of manual lymphatic drainage (@DISEASE$) in the early postoperative period after total knee arthroplasty (TKA) to reduce @PHENOTYPICFEATURE$ and pain and improve knee range of motion.	false
+32eeb8d41fadffcd35766b7a7be868ff38e34742	Short-term @DISEASE$ treatment ameliorates CVI severity and related @PHENOTYPICFEATURE$, symptoms, and pain HRQOL in patients with CVI.	false
+4e5bbb36dfc825ff7e1de12e29b40822af3889de	Manual lymph drainage (@DISEASE$) stimulates the lymphatic system and reduces @PHENOTYPICFEATURE$.	false
+a07a1da36d206ca2eeed5a07e0ea030cae905d9c	Our aim was to evaluate the efficacy of @DISEASE$ in reducing @PHENOTYPICFEATURE$ and in improving functionality of the hands and perceived quality of life (QOL) in SSc patients in edematous phase.	false
+abca43b5119b0a2731b995eac580eed16b8bbc3b	Manual lymphatic drainage (@DISEASE$) and pressure-therapy are part of the therapeutical gears used in physiotherapy for reducing @PHENOTYPICFEATURE$.	false
+5340d3e862708c204c787857f07e7cf5e515877d	Associated conditions such as @PHENOTYPICFEATURE$, small-joint laxity, arachnodactyly, seizure disorder, optic atrophy, congenital heart disease, @DISEASE$, hirsutism, astigmatism/amblyopia, microcephaly and neuropsychiatric disturbances dictate the effects of a contiguous gene syndrome.	false
+dfc0f699a6fa94dfc5ade658d17c68b0f6d788ca	However, the typical extrapulmonary manifestations of @DISEASE$, including relative bradycardia, hyponatremia, @PHENOTYPICFEATURE$ and diarrhea, were not present in the 6 patients.	false
+f189b45315f8051d63005b12a185c8a2eb93745c	Against the diagnosis of @DISEASE$ was the absence of @PHENOTYPICFEATURE$ and highly elevated ferritin levels.	false
+701dfaeed683fd826912f09d62ccb740b8834924	We described a case of @DISEASE$ with concomitant severe degeneration of spinal muscle, mitochondrial DNA4977 deletion and @PHENOTYPICFEATURE$.	false
+39761fa52c778fae3d7a33fe8cc60c5199211532	A 47-year-old woman with @DISEASE$ for last 11 years was admitted because of relapsed muscle weakness, hypermenorrhea and @PHENOTYPICFEATURE$.	false
+6f6dc5a386041d1c22a45111154978d11b5a34f2	Commonly encountered pathologies in neuro-ophthalmology include: optic neuropathies (such as optic neuritis and ischemic optic neuropathy), visual field loss (transient, constant, unexplained), transient visual loss, unspecified visual disturbances, diplopia, @PHENOTYPICFEATURE$, thyroid eye disease, @DISEASE$, anisocoria, and eyelid abnormalities.	false
+5b96416d6b7afe8c807dea3d62449ecf0d92fd23	Commonly encountered pathologies in neuro-ophthalmology include: optic neuropathies (such as optic neuritis and ischemic optic neuropathy), visual field loss (transient, constant, unexplained), transient @PHENOTYPICFEATURE$, unspecified visual disturbances, diplopia, abnormal eye movements, thyroid eye disease, @DISEASE$, anisocoria, and eyelid abnormalities.	false
+a7bebafc760e22219a999244ad3413fc7082724c	Other diseases, such as beta-thalassemia, achromatopsia, colobomatous @PHENOTYPICFEATURE$, Dubin-Johnson syndrome, and congenital @DISEASE$, were frequent in both the Iranian and Iraqi Jewish communities.	false
+6660392082e1d2fb0ee50adafc326c768e4ae53e	Dysfunction of an ocular motor nerve must be distinguished from other causes of @PHENOTYPICFEATURE$, such as @DISEASE$ or thyroid eye disease, which are outside the scope of this article.	false
+b427d79a9b64952daa734dafdfe27938328f96af	Variable eye misalignment and blepharoptosis in childhood ocular @DISEASE$ can lead to permanent binocular @PHENOTYPICFEATURE$.	false
+87e83d04e030bf389b937daa07635329c0e2aa53	Generalized @DISEASE$ triggered by @PHENOTYPICFEATURE$ surgery.	false
+a4b0ed2f03d830abfe8d5deeaa4763ea46c1d9c9	Stiff person syndrome with @PHENOTYPICFEATURE$, @DISEASE$, and thymoma.	false
+90cd472cff908ffb3f602a0b9d6eaf1e7e3d0144	[@DISEASE$ suspected to be oculomuscular myopathy associated with @PHENOTYPICFEATURE$ and oligotrichia].	false
+76168c427393451c9ff1d2fb7711af3d99e37a78	@DISEASE$ as a cause of facial @PHENOTYPICFEATURE$.	false
+2aeff1afb43ad7d27caffae9b8e7984e8531e550	Lethal yellow (Ay) is a mutation at the mouse agouti (a) locus that is associated with an all-yellow coat color, obesity, diabetes, @PHENOTYPICFEATURE$ in heterozygotes, and @DISEASE$ in homozygotes.	false
+61470b78eee6333012fa2df43d71365ffe43de68	The Auditory Discrimination in Depth (@DISEASE$) program has been reported to train phonological awareness in developmental @PHENOTYPICFEATURE$ and dysgraphia.	false
+fa7a889363aca30fd4af5b8e3f024d5ddd39e2be	HFS of the ipsilateral ANT significantly decreased the incidence of generalized seizures and the mean behavioral seizure stage and afterdischarge duration (@DISEASE$), and shortened cumulative ADD and cumulative @PHENOTYPICFEATURE$ duration.	false
+f0920bfe914afa5a6bba16eedd7d4c64bc720a38	HFS of the ipsilateral ANT significantly decreased the incidence of @PHENOTYPICFEATURE$ and the mean behavioral seizure stage and afterdischarge duration (@DISEASE$), and shortened cumulative ADD and cumulative generalized seizure duration.	false
+64829faf3bcc6ea3635b92eaba58fce0e19242db	We sought to determine whether asthma, hay fever, and food allergy are associated with @PHENOTYPICFEATURE$ in children and whether disease severity, sleep disturbance, or @DISEASE$/ADHD modified such associations.	false
+388f33f897df1ea485fd7233ed87ff1c0b786368	This discrepancy, combined with reduced episodic @PHENOTYPICFEATURE$, has widespread clinical utility in diagnosing Alzheimer's disease (@DISEASE$).	false
+009abc741355c68b044c35cec36edb3e2197e00a	This study examined the familial relationship between Gilles de la Tourette's syndrome (GTS) and attention deficit disorder (@DISEASE$), learning problems, @PHENOTYPICFEATURE$, and stuttering.	false
+e2dcfc6f821282e3bbc2009db5c6be4ea6b064c6	Bilateral post-treatment with HFS reduced the incidence of generalized seizures and the mean behavioral seizure stage and shortened average afterdischarge duration (@DISEASE$) and @PHENOTYPICFEATURE$ duration (GSD), while bilateral pre-treatment with HFS resulted in a similar but much weaker inhibition of seizures.	false
+e072cc341299a5a96b1a8218b22ee01e3105d940	Bilateral post-treatment with HFS reduced the incidence of @PHENOTYPICFEATURE$ and the mean behavioral seizure stage and shortened average afterdischarge duration (@DISEASE$) and generalized seizure duration (GSD), while bilateral pre-treatment with HFS resulted in a similar but much weaker inhibition of seizures.	false
+c1855f85ec5b77b9f75835f18bd800a20f06486f	Since there were positive correlations between the @DISEASE$ and cervical lengths by Pearson's test, we performed a multivariate logistic regression analysis after adjustment for confounding factors and found that small ADI was the principle parameter associated with @PHENOTYPICFEATURE$.	false
+2c3e0851d2c4ddca890dad27e16afcbba28a36df	Among the described patients with @DISEASE$, the majority experience morbidity (e.g., severe hypernatremia, @PHENOTYPICFEATURE$, venous thromboembolism [VTE], and obesity) and an increased mortality risk.	false
+0f738bb36b23981a59a04d0d82a018b3483affba	The reasons for conversion were determined as CNI nephrotoxicity in 15 patients, @DISEASE$ in 15 patients, malignancy in 6 patients, and @PHENOTYPICFEATURE$ in 1 patient.	false
+5a9298de5c43737900a34f87da962e07abdd2f8e	It can cause a variety of diseases: organ or disseminated acute disease, acute graft rejection, @DISEASE$, graft glomerulopathy, @PHENOTYPICFEATURE$, induction of secondary bacterial or mycotic disease.	false
+d3dd4451d2cc47a574b6a058595c8f47afd37f31	The usual causes of a decline in glomerular filtration rate after the first year include transplant-specific causes such as @DISEASE$, acute rejection episodes, chronic calcineurin inhibitor nephrotoxicity, transplant @PHENOTYPICFEATURE$ and ureteric obstruction, as well as immunodeficiency-related causes and non-transplant-related causes, such as recurrent or de novo renal diseases and bacterial infections.	false
+4a16c80f6cbcc7d4639ddf880237f4e093e58469	Many risk factors for @DISEASE$ have been identified, such as glomerular hyper-filtration, delayed graft function, repeated acute rejection, systemic hypertension and @PHENOTYPICFEATURE$.	false
+da085d3ae849b67e61d3a459293d3ea6c3d0d24c	Other outcome assessments in kidney transplant recipients include risk factors for @DISEASE$, hypertension, @PHENOTYPICFEATURE$, and bone disease.	false
+795b6bb74c1b3f113f68049a6fd458120e5ad31f	We classified the clinical symptoms according to the presence of a mental status disturbance (@DISEASE$), behavioral amnesic impairment (BAI), aphasia/dysarthria, ocular?movement disorders (OMDs), motor deficit, @PHENOTYPICFEATURE$, and others.	false
+63a6c579a8d8b952066987f44fa5dad29a880af5	@DISEASE$ often occurs after paediatric cerebellar @PHENOTYPICFEATURE$ removal and is most likely after removal of a medulloblastoma with a maximum lesion diameter>5 cm.	false
+bccac631d80d4d3b31b7ac87cfe983d3e9a463cf	In this prospective study the following risk factors for @DISEASE$ were assessed: type, size and site of the @PHENOTYPICFEATURE$; hydrocephalus at presentation and after surgery, cerebellar incision site, postoperative infection, and cerebellar swelling.	false
+fd8f7affaaa90f5187645cdb34df857d692fc334	Minimal systemic disease (@DISEASE$) means the presence of circulating or disseminated @PHENOTYPICFEATURE$ cells in mesenchymal compartments of a patientts' body (lymphatic nodes, blood or bone marrow).	false
+ac616294916392b2643a62d17d9a26fcfdb44e22	Mutism and Subsequent Dysarthria (@DISEASE$) and the Posterior Fossa Syndrome (PFS) have become well-recognized clinical entities which may develop after resection of cerebellar @PHENOTYPICFEATURE$.	false
+5f8d12aaaf0b2e692da4d7336c81baabcc3e3472	Using rates of maximum signal drop (@DISEASE$), we drew regions of interest (ROI) starting near the lesion, and gradually moving outwards to areas of distant edema in axial and sagittal planes at 10, 20 and 30 mm from the @PHENOTYPICFEATURE$.	false
+0d98de13740f7f0917a519ebd7e7c1e963f5bb56	MDD and @DISEASE$ groups had shorter @PHENOTYPICFEATURE$ latency periods (73 and 74 days, respectively) than the CSD group (105 days).	false
+191e52f6ac44293ae61a9f16b61d79cf43b8ca53	We employed a treatment simulation framework which contains mathematic models for describing the load and spread of @DISEASE$ based on a retrospective cohort of breast pathology specimens, a surgery simulation model for estimating the remaining MSD quantity and a @PHENOTYPICFEATURE$ control probability model for predicting the risk of local recurrence following radiotherapy.	false
+ab58654098d9e453bb33490215f40707d964dd72	We employed a treatment simulation framework which contains mathematic models for describing the load and spread of MSD based on a retrospective cohort of breast pathology specimens, a surgery simulation model for estimating the remaining @DISEASE$ quantity and a @PHENOTYPICFEATURE$ control probability model for predicting the risk of local recurrence following radiotherapy.	false
+16300fba023a1e07c577c30d7c7d6a5451fffc57	Mean score differences (@DISEASE$) and 95% confidence intervals (CI) were analyzed using ANCOVA and adjusted for age, sex, @PHENOTYPICFEATURE$ stage, comorbidity, education level, hospital volume, and postoperative complications.	false
+8a3b2c1fd062f5ec05bcac31fdc3535081b0e7f8	Number of @PHENOTYPICFEATURE$ per rat was significantly increased in the MDD group (4.6) compared with CSD (1.6), CMD (2.1), and @DISEASE$ (2.5) groups.	false
+6de296fa5ac73f07f142f44981e650678e617008	@DISEASE$ is an autosomal recessive disease caused by mutations in the 3?-hydroxysterol-Delta24 reductase (DHCR24) gene, with severe developmental anomalies including @PHENOTYPICFEATURE$.	false
+a8dee1138030f4b5d73917b720dad7d4a90dcd0b	This may lead to the @PHENOTYPICFEATURE$ and a @DISEASE$-like syndrome often seen in cases of echovirus meningomyeloencephalitis.	false
+f361630889b7a84124432053920eec121ca65a67	Half of the participants had been diagnosed with @DISEASE$, and the remainder with multiple sclerosis, Charcot-Marie-Tooth disease, spinal injury or @PHENOTYPICFEATURE$, and stroke.	false
+f70096ebb8c02bdef416b05b8a58a14189df901a	Five patients with cerebral palsy had, respectively, two deformities, two tight hamstrings and knee flexion contractures, and one bilateral external tibial torsion; two patients with @PHENOTYPICFEATURE$ (L5-S1) had foot deformities; one arthrogrypotic patient had flexion contractures of both knees; one @DISEASE$ patient had flexion contractures of both knees and equinovarus deformities of the feet; and one patient with Poland's syndrome had a 90 degree flexion contracture of the wrist.	false
+f63268d39491eff3ec451a656183b8b60954265a	The authors have performed 34 Dwyer's calcaneal osteotomies in children with pes cavus confined to the medial arch in non-paralytic lesions (@DISEASE$ and @PHENOTYPICFEATURE$ were excluded).	false
+028a813cb4b95c204e4446026b54059331c2647c	A study in a @DISEASE$ @PHENOTYPICFEATURE$ cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.	false
+ce6fa37e6cec8ca3df66d63e0088c3dbe6e7a277	@DISEASE$-@PHENOTYPICFEATURE$ and schizophrenia.	false
+f0eb3af18067f62e0c6157389ddb55990533ecbe	Neurologic syndromes observed in EV71 include meningitis, meningoencephalomyelitis, @DISEASE$-like paralytic disease, Guillain-Barr? syndrome, transverse myelitis, @PHENOTYPICFEATURE$, opsoclonus-myoclonus syndrome, benign intracranial hypertension, and brainstem encephalitis.	false
+1b3cc12317ab599c0d0e5eb856718446ac6a9b78	Cold applications are sometimes of pronounced symptomatic benefit in some rheumatic disorders such as acute myalgia; in the temporary relief of @PHENOTYPICFEATURE$; in helping to release tight structures in @DISEASE$ and allied diseases; and in temporary recovery of energy in multiple sclerosis.	false
+15c9ca75c053e75a13bcf096f5edd5eb04c79522	Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital @DISEASE$ cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, @PHENOTYPICFEATURE$, celiac disease, microcephaly, as well as other dysmorphic features.	false
+8078cd4d4ab1dadf83b5f603db9e37236a366112	Our Patient exhibits a variety of clinical findings including global developmental delay with @PHENOTYPICFEATURE$, sensorineural hearing loss, bilateral congenital @DISEASE$ cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features.	false
+d34ddba7c7c1e0ea091af0fe6cf120d9e7f19b9a	We performed exome sequencing of an infant with primary @PHENOTYPICFEATURE$, @DISEASE$, and intractable seizures and his healthy, unrelated parents.	false
+087d9c242cb96af7f23c8c823c7c22232b7495aa	@DISEASE$ with @PHENOTYPICFEATURE$ and dyskinesia: report of two cases.	false
+77f0531173e8a9567bfbbf93aec76cb785212ff4	Biallelic loss of function variants in COASY cause prenatal onset @DISEASE$, @PHENOTYPICFEATURE$, and arthrogryposis.	false
+80e1d937e8b3e6f43618a7698ef0d642c0f46786	Functional characterization of biallelic RTTN variants identified in an infant with @PHENOTYPICFEATURE$, simplified gyral pattern, @DISEASE$, and seizures.	false
+b7480250b00992c3d7540f4b3b206451a9520884	Spinal muscular atrophy with @DISEASE$ (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe @PHENOTYPICFEATURE$.	false
+d8eb950e7f9ecec9b608318d550d044d02b91075	Inherited syndrome of @PHENOTYPICFEATURE$, dyskinesia and @DISEASE$: a systemic atrophy with early onset.	false
+7c2c7a1c87359f6b926c324399f251919439c4ce	Patient phenotypes ranged from severe @PHENOTYPICFEATURE$ with extremely reduced gyration with @DISEASE$ to moderate microcephaly with cerebellar atrophy.	false
+e106daf00f9445cbd262976da38d33be3ef8acfd	Patient phenotypes ranged from severe microcephaly with extremely reduced gyration with @DISEASE$ to moderate @PHENOTYPICFEATURE$ with cerebellar atrophy.	false
+a676d9b691566cfbec759c97379cf4de00d2ff4d	CASK mutations have been reported in patients with intellectual disability with @PHENOTYPICFEATURE$ and @DISEASE$ or congenital nystagmus, and those with FG syndrome.	false
+a77f34a73ab941758a6501b80b2087adc5f459e4	We present two clinically diagnosed cases of @DISEASE$ with @PHENOTYPICFEATURE$ and dyskinesia (pontocerebellar hypoplasia type 2) from two different Portuguese families.	false
+4be00462d89e4080116d1547da7d5612e2aa5ad5	All 16 patients showed an identical profile of virtually absent developmental milestones, early-onset severe chorea, and @PHENOTYPICFEATURE$ together with @DISEASE$.	false
+b3e643c375f7dd25a6fe164b559b283c2b77e092	@PHENOTYPICFEATURE$ and dementia care in Asia-Taiwanese experiences: elders with dementia in two different adult day service (@DISEASE$) environments.	false
+fe7296b261b0ca37b6d5098bac0a65cc605594f5	Therefore, there is an urgent need to identify effective and safe pharmacological treatments for efficiently treating agitation and @PHENOTYPICFEATURE$ in @DISEASE$ and dementia.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+4f83ec4c924d8b84242bee7d332df32d2315c6fc	Phase two showed significant associations between cumulative exposures to thimerosal and the following types of NDs: unspecified developmental delay, tics, attention deficit disorder (@DISEASE$), language delay, speech delay, and @PHENOTYPICFEATURE$ in general.	false
+287810ff36843d7c805860ef2a445567b6c63d23	Phase two showed significant associations between cumulative exposures to thimerosal and the following types of NDs: unspecified developmental delay, tics, attention deficit disorder (@DISEASE$), @PHENOTYPICFEATURE$, speech delay, and neurodevelopmental delays in general.	false
+54e8c32d3bdfe6623639409ce4ad489bd81d4da0	Parents of boys with @DISEASE$ only, without the additional problem of hyperactivity or aggressive symptoms, reported the highest level of family functioning, and a larger percentage of parents whose child had @PHENOTYPICFEATURE$ or hyperactivity plus aggression reported extreme family functioning.	false
+70053b936f5b08fbe6a5cf4d14691073cc8e8f3f	Parents of boys with @DISEASE$ only, without the additional problem of hyperactivity or aggressive symptoms, reported the highest level of family functioning, and a larger percentage of parents whose child had hyperactivity or @PHENOTYPICFEATURE$ plus aggression reported extreme family functioning.	false
+0d0052de27d9f2680576f22b02f2a5938c550b6d	It seems that "soft" neurological signs with hyperactivity, inattention and @PHENOTYPICFEATURE$ may be early clinical signs of ADD-ADHD as 80% of the children with these clinical features developed @DISEASE$-ADHD during early school age.	false
+95f2250f95861d8c76853aceec5009e7262d9473	It seems that "soft" neurological signs with hyperactivity, inattention and @PHENOTYPICFEATURE$ may be early clinical signs of @DISEASE$-ADHD as 80% of the children with these clinical features developed ADD-ADHD during early school age.	false
+dfb06fec7a0a3bd0234b2a636d254b797c06221d	A score of 46 or more strongly suggests diagnosis of a @PHENOTYPICFEATURE$ disorder during infancy; (2) Brown's (1996) Attention Deficit Disorders Scale (@DISEASE$) is a 40-item self-report.	false
+ad8d937b25f5c03ea54a7bef58c1df10ffbcc253	Inattention, hyperactivity and @PHENOTYPICFEATURE$ at 2-4 years of age as a predictor for @DISEASE$-ADHD syndrome.	false
+118c03186730e9ae3b7d81afe14c097029430af0	Inattention, @PHENOTYPICFEATURE$ and speech delay at 2-4 years of age as a predictor for @DISEASE$-ADHD syndrome.	false
+2fb2af00301abef8a8b2e20592f22e42c96f5551	HLA-haploidentical bone marrow transplantation in three infants with @DISEASE$: stable immunological reconstitution and reversal of @PHENOTYPICFEATURE$.	false
+37962f6af08a7eb800d399b34f9d3cd1d903b6eb	There are certain distinguishing features of @DISEASE$, including multiple @PHENOTYPICFEATURE$ of chondro-osseous dysplasia on radiographic examination.	false
+67728171f5692b75134cd84ad47ca4bea86ba1fb	Short stature may be a component of the @PHENOTYPICFEATURE$ @DISEASE$.	false
+f8da25de9be64a4fd5019e9d73cb2d6404d88ef5	We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and @PHENOTYPICFEATURE$, findings consistent with @DISEASE$.	false
+f510e73b01b4eedd52d8859fe40dc0df0e7475bc	We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and @PHENOTYPICFEATURE$, findings compatible with a diagnosis of the @DISEASE$ (OTS).	false
+7916312a4d4ddd0ca256a1a0fb9f1b4d39ec8005	@DISEASE$ (OTCS) is a rare malformation syndrome with the following features: synostosis of metopic suture, craniofacial abnormalities, @PHENOTYPICFEATURE$ and a multitude of pathological findings affecting almost every organ system.	false
+fdfc727994ef35f151e21d0eb4d09ae051f789ea	A male infant with ornithine transcarbamylase (@DISEASE$) deficiency is described who was relatively symptom free for 4 months, gradually developed severe @PHENOTYPICFEATURE$ due to cerebral atrophy, and died at 13 months of age.	false
+dd4501a40f9d637b82a08e88ba7cfe805061b3a5	@DISEASE$ (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor @PHENOTYPICFEATURE$, and variable cardiac defects with a high mortality rate.	false
+77c47aed943b86691a4fcf3d08e9930aab977f31	A case of a 13-year-old boy with protracted vomiting, @PHENOTYPICFEATURE$, and altered mental status, ultimately diagnosed with late-onset ornithine transcarbamylase (@DISEASE$) deficiency, is presented.	false
+6f9bb64af10674b89dd5b1ee76625a54f41091c4	The Opitz' Trigonocephaly Syndrome, also called @DISEASE$ is an important autosomal recessive inherited disorder with characteristic synostosis of metopic suture, craniofacial abnormalities and @PHENOTYPICFEATURE$.	false
+4afde8ddf4cb87a19bd57a1a0862cfd92f17af7e	Ornithine transcarbamylase (@DISEASE$) deficiency presents most commonly with neonatal hyperammonemic @PHENOTYPICFEATURE$.	false
+87d028ad8cfcdcaafcabe09b0e810677ab2c90ac	We record the typical clinical and biochemical findings of ornithine transcarbamylase (@DISEASE$) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, @PHENOTYPICFEATURE$ and seizures.	false
+1fd27ed2b5e4a3273d21bf48b97cbac59e4481ff	@DISEASE$ is a dominant disorder characterized by craniofacial and @PHENOTYPICFEATURE$, sensorineural hearing loss, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+1f2b4376f101d391cdadcd4ccacdcec800b36147	In one patient with @DISEASE$ this was combined with congenital hereditary @PHENOTYPICFEATURE$.	false
+ca5752b0db9078add7620e5c7287de71ed73c456	@PHENOTYPICFEATURE$-hypotonic, two (0.9%) dyskinetic, two (0.9%) @DISEASE$.	false
+32449dab24270b7d248f4a167227ce4e9296c14d	Fifteen children with dysarthria and CP (nine males, six females; age range 5-11 y, mean age 8 y, SD 2 y; CP type: eight spastic, four dyskinetic, one @PHENOTYPICFEATURE$, two @DISEASE$; Gross Motor Function Classification System levels II-IV, median level II) participated in this study.	false
+c6df9dffec1520845cc4f683bc25c766b8e36998	Three dolphins provided promising case study information about biomarkers related to @PHENOTYPICFEATURE$, respiratory infections, @DISEASE$, or hormonal changes (pregnancy).	false
+1d88b297c8cacb25f0369e6d407da63829f65008	Here, we present clinical and molecular findings in a male patient with clinical signs of @DISEASE$, developmental delay, short stature, @PHENOTYPICFEATURE$, and facial dysmorphism.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+ff83f77a14f0062d431d65848a5aa98b47c3fdd2	Distinguishing characteristics include cleft lip with or without cleft palate, @DISEASE$, bilateral lip pits, @PHENOTYPICFEATURE$, normal intelligence, and an autosomal-dominant mode of transmission with a high degree of penetrance.	false
+962e6fb82abec7335a7b29f91a1637660ca2327d	[Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, @PHENOTYPICFEATURE$, enamel and dentin hypoplasia, @DISEASE$ with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?].	false
+9498a4c4e9ac9e539c99d02324acb3891bc280e0	We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from @PHENOTYPICFEATURE$, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of @DISEASE$, a suspected ciliopathy.	false
+adb405be8a2034bd33995b057fa022ad72a8963c	Cyclin M, an orphan cyclin, is the product of FAM58A, whose mutations cause @DISEASE$, a human developmental anomaly whose features include toe syndactyly, telecanthus, and anogenital and @PHENOTYPICFEATURE$.	false
+0be4755cff15db4066671a31e67bd48d66b0a944	@DISEASE$ is a rare X-linked dominant disorder characterized by toe Syndactyly, Telecanthus, Anogenital malformations, and @PHENOTYPICFEATURE$, and is caused by loss-of-function variants in FAM58A.	false
+b2ba174ea2d9a528cfc276171ae5264e5e21e414	CDK10/CycM is a protein kinase deficient in STAR (toe Syndactyly, Telecanthus and Anogenital and @PHENOTYPICFEATURE$) syndrome, which results from mutations in the X-linked FAM58A gene encoding Cyclin M. The biological functions of CDK10/CycM and etiology of @DISEASE$ are poorly understood.	false
+e80112378a8d146d0f2d5e80a10b03a64d0d9411	The siblings both possess Axenfeld-@DISEASE$ (ARA), hypertelorism, clinodactyly, and @PHENOTYPICFEATURE$, but otherwise vary in the phenotypic manifestations of this unbalanced translocation.	false
+aa5a49f2f556a1bc4c9728a41854c117b492fc0c	Our findings extend the genetic causes of severe insulin-resistance syndromes and provide important information with respect to the function of PIK3R1 in normal development and its role in human diseases, including @PHENOTYPICFEATURE$, @DISEASE$ and other ocular affections, insulin resistance, diabetes, paucity of fat, and ovarian cysts.	false
+077ce9d3d1b03288f52dea0100b7ec61864b49c4	Sibs with Axenfeld-@DISEASE$, @PHENOTYPICFEATURE$, and leptomeningeal calcifications: a new autosomal recessive syndrome?	false
+dc9d3b2135eefe541b0953831259978993dfe471	Bru heterozygous mice display defects similar to Axenfeld-@DISEASE$, including iris defects, @PHENOTYPICFEATURE$, vacuolar cataracts, significant iris/corneal adhesions, buphthalmos and optic nerve cupping, a sign indicative of glaucoma.	false
+7d46e8ebc40f44245b2cb88b0234f8dd8786c1e2	An ARS variant has been described in two familial cases of Axenfeld-@DISEASE$ (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial @PHENOTYPICFEATURE$, hydrocephaly, psychomotor delay and flattened femoral epiphyses.	false
+fff493f10d5382088b1a386dbff34bbfc02cb0de	An ARS variant has been described in two familial cases of Axenfeld-@DISEASE$ (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, @PHENOTYPICFEATURE$, psychomotor delay and flattened femoral epiphyses.	false
+093ce08a1e267c9de6763573341baab3ca44f1b1	No @PHENOTYPICFEATURE$ or @DISEASE$, which often are present in this syndrome, were noted.	false
+45168ba87fa19980fba1563eeb26e272a08db0e3	We report on two sisters, born to consanguineous parents, who presented with Axenfeld-@DISEASE$, @PHENOTYPICFEATURE$, leptomeningeal calcifications, and mild mental retardation.	false
+ff91fff996243543f08ba74ffcbe8bb847583484	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/@DISEASE$, hypertelorism and @PHENOTYPICFEATURE$ with deletions of 6p25.	false
+76e1e6117c1fdc9ef41b68d058efead61ba33bc5	Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and @PHENOTYPICFEATURE$/iris coloboma/@DISEASE$, hypertelorism and deafness with deletions of 6p25.	false
+938abd5820d371266348023cbaa62d8dabd4debc	Axenfeld-@DISEASE$, hypertelorism, clinodactyly, and @PHENOTYPICFEATURE$ in sibs with an unbalanced translocation der(6)t(6;8).	false
+7c2735fb4cbc4cf3a718dc7f261cedb3f4423035	This study reports a 25-year follow-up of a patient with De Hauwere syndrome (Axenfeld-@DISEASE$, @PHENOTYPICFEATURE$, and hearing loss) whose intelligence is normal.	false
+bf0577c8e23b70d33f09bb62138960b9ce4d76bf	[A case report of @DISEASE$ manifested by bilateral lower extremity @PHENOTYPICFEATURE$ and dyspnea].	false
+45863519e92306be98022494cfdcdc803730f4ab	Forty-three @DISEASE$ patients (57.1% males) with @PHENOTYPICFEATURE$ were administered the Satisfaction with Life Scale, the State-Trait Anxiety Inventory and the Centre for Epidemiological Study-Depression Scale.	false
+afe46746f8807e1e155b2bfa1cb22b9e3ac99e86	MGUS and myeloma patients that have atypical features, including unexplained weight loss; lower extremity @PHENOTYPICFEATURE$, early satiety, and dyspnea on exertion should be considered at risk for @DISEASE$.	false
+1b8e35485a11ea4c4463dc69c58d78b5361b4b7e	In 2012, he developed @PHENOTYPICFEATURE$ of the lower legs and pleural effusion, and was diagnosed as having nephrotic syndrome and heart failure due to @DISEASE$.	false
+4ed8081a44b92a9ac6a0ce671df2297d76ccd777	A self-designed questionnaire, Childhood Autism Rating Scale, and @PHENOTYPICFEATURE$ Checklist were used to determine the association between @DISEASE$ and epilepsy.	false
+4d766f6ddc16f62756c8cf7cb8e053d749dda497	A self-designed questionnaire, Childhood @PHENOTYPICFEATURE$ Rating Scale, and Autism Behavior Checklist were used to determine the association between @DISEASE$ and epilepsy.	false
+f398f5ac897e9831e276dfdfbab07312f3d7ad6c	CAM was categorized as special diets versus "other" CAM; @DISEASE$ was defined as @PHENOTYPICFEATURE$, pervasive developmental disorder (PDD), or Asperger's.	false
+5494f211c05f7b67db5ff0328da9c2ecdf4417df	CAM was categorized as special diets versus "other" CAM; @DISEASE$ was defined as autism, @PHENOTYPICFEATURE$ (PDD), or Asperger's.	false
+14f01cac6c3d985a8cb06f15e625cb1aea63a7fd	The term '@DISEASE$' encompasses @PHENOTYPICFEATURE$, pervasive developmental disorder not otherwise specified, and Asperger's syndrome.	false
+fed3d4b0d0d2341c80f350e67f8686f8006ab26a	The term '@DISEASE$' encompasses autism, @PHENOTYPICFEATURE$ not otherwise specified, and Asperger's syndrome.	false
+329b8232c136ccfe369177afc53fc535ee02738d	Finally, pediatricians noted symptoms of onset of possible @PHENOTYPICFEATURE$, including language delay, for 44 of the 75 children with @DISEASE$ and 2 of the 24 typical children.	false
+61198d66a11ab61d404b4709f6323082e4c69362	Finally, pediatricians noted symptoms of onset of possible autism, including @PHENOTYPICFEATURE$, for 44 of the 75 children with @DISEASE$ and 2 of the 24 typical children.	false
+ff26708b156f03f106ea20076aa4b06aa468422c	Neurodevelopmental delays, @PHENOTYPICFEATURE$, and genetic abnormalities were strongly associated with @DISEASE$.	false
+8c1e749bc7c8dc9e792f13cd3ab1c053417c0b02	@PHENOTYPICFEATURE$, language delays, and genetic abnormalities were strongly associated with @DISEASE$.	false
+49ae1ef7846b772f899d97be0982c63215e12865	Diagnosis of @DISEASE$ was defined as @PHENOTYPICFEATURE$, Asperger's or pervasive developmental disorder.	false
+9bd6c383138bff5eabcab46450d01e810f85eef3	Diagnosis of @DISEASE$ was defined as autism, Asperger's or @PHENOTYPICFEATURE$.	false
+f4ecd463051940e47811967ffd2dcdec598214ac	Factors associated with earlier age of diagnosis were @PHENOTYPICFEATURE$ diagnosis (compared with other @DISEASE$), language regression, language delay, lower socioeconomic status, and greater degree of support required.	false
+a5c614efdab4c2aee7dd282892fd803549f4800a	Factors associated with earlier age of diagnosis were autism diagnosis (compared with other @DISEASE$), language regression, @PHENOTYPICFEATURE$, lower socioeconomic status, and greater degree of support required.	false
+f110425dba7e4e78c196a072d4dbb212d8c46ff0	Autism spectrum disorder (@DISEASE$) is a neurodevelopmental disorder categorized into @PHENOTYPICFEATURE$, pervasive developmental disorder - not otherwise specified (PDD-NOS) and Asperger syndrome.	false
+f58c863564f9afc067d4f70a2fc89f87299ff4ba	Autism spectrum disorder (@DISEASE$) is a neurodevelopmental disorder categorized into autism, @PHENOTYPICFEATURE$ - not otherwise specified (PDD-NOS) and Asperger syndrome.	false
+fe60332613d6c7bcb80402fa55aeabb2c17b469d	Autism Spectrum Disorder (@DISEASE$) refers to a group of neurodevelopmental disorders including @PHENOTYPICFEATURE$, Asperger's syndrome (AS) and pervasive developmental disorder-not otherwise specified (PDD-NOS).	false
+5addb47de96c552f91ceffa7a1a8ab53c9572675	Autism Spectrum Disorder (@DISEASE$) refers to a group of neurodevelopmental disorders including autism, Asperger's syndrome (AS) and @PHENOTYPICFEATURE$-not otherwise specified (PDD-NOS).	false
+93648cd9ede343cd2f6f2c1131cc980cfc65d991	We identified children with a code for @DISEASE$ (autism spectrum disorder, autism, Asperger's, or @PHENOTYPICFEATURE$) in the CPRD from 1990 to 2014.	false
+86d49d42b684b38e687f44cd2303e42c25d6c1bb	We identified children with a code for @DISEASE$ (autism spectrum disorder, @PHENOTYPICFEATURE$, Asperger's, or pervasive developmental disorder) in the CPRD from 1990 to 2014.	false
+563c150ac052e3815953b723930873f0a5fda6b9	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with @DISEASE$ and the Cowchock syndrome, an X-linked Charcot-Marie-Tooth disease (CMTX4) with axonal sensorimotor neuropathy, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+d2d55ae46812e56af8cbdee6e0c155edfa627af2	The prevalence of other @DISEASE$, short stature, @PHENOTYPICFEATURE$, cryptorchidism, and developmental delay did not differ between the two groups.	false
+2e2ab4c40d33fde77620f648e1e081b9871881ca	Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with @DISEASE$ and additional @PHENOTYPICFEATURE$.	false
+a0a84830400cf65b93684c5a50aa6e167163c3ae	New onset of @DISEASE$, ear diseases, eye disorders, @PHENOTYPICFEATURE$, hypothyroidism, diabetes, and obesity were more frequent in childhood and remained elevated in adulthood (overall IRR 35.5, 1.7, 3.1, 4.4, 13.1, 1.3, and 2.6 respectively), whereas the gap widened in adulthood for epilepsy and intellectual disability (IRR 15.2 and 158 respectively, in participants older than 30y).	false
+5491884702f35b04c1621ba39e2df8bb562b9643	Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic @PHENOTYPICFEATURE$ and @DISEASE$ in L?ri-Weill dyschondrosteosis and Langer mesomelic dysplasia.	false
+24fb104c5fee3b8d29ce585915ef25bacfe6ec2f	These findings include @PHENOTYPICFEATURE$/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, @DISEASE$, syndactyly of toes, and hallux valgus.	false
+329cb1adf99001282506b834231287031d14340b	Turner syndrome is characterized by short stature and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, @PHENOTYPICFEATURE$, cubitus valgus, high-arched palate, short metacarpals and @DISEASE$.	false
+b92301200fd92ad83e73593ae167c46d96751f5c	Mutations in PURA cause profound neonatal hypotonia, seizures, and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+fc8e702872bf5ef12222477eeeb898d6ae24256a	We report a premature infant with @DISEASE$ to demonstrate additional manifestations of this condition: large cisterna magna, intestinal malrotation, and @PHENOTYPICFEATURE$.	false
+936df31267e93f2be7a119947a6d2d16aa666b45	The most frequent clinical manifestations are congenital cardiac defects, characteristic facies, palate malformations, hypoparathyroidism, @DISEASE$ due to @PHENOTYPICFEATURE$, growth retardation, and behavioural and psychiatric problems.	false
+8244d8fc184ff031c4a23ba308ea087db1815f60	The most frequent clinical manifestations are congenital cardiac defects, characteristic facies, palate malformations, @PHENOTYPICFEATURE$, @DISEASE$ due to thymic hypoplasia, growth retardation, and behavioural and psychiatric problems.	false
+994d7ad814b4415b3f03dce2c1e5c24b1e1894d3	She had congenital heart disease, dysmorphic facies, @PHENOTYPICFEATURE$, @DISEASE$, velopharyngeal insufficiency, scoliosis, and a hearing deficit.	false
+863316e9976749d6d8b9522871d432833eb4ef51	CaV1.2 channelopathies: from arrhythmias to @PHENOTYPICFEATURE$, bipolar disorder, and @DISEASE$.	false
+9ad92d2517b90b7c4192dde9245c21c71befa58a	She had typical facies, a cardiac defect, @PHENOTYPICFEATURE$, severe T and B cell @DISEASE$, and low levels of facteur thymique serique (FTS).	false
+a4a7ceb323db40007eed0720b172a966fb51c1dc	deletion syndrome is a common syndrome typically consisting of variable cardiac defects, @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$.	false
+5804d9b6aeb58964af94b8c8d80c0b0bbd4a66f5	We studied a patient with albinism, neutropenia, @DISEASE$, @PHENOTYPICFEATURE$, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency.	false
+3bbdd4fa06b294d036664e27cfb0ad807bc8864b	We studied a patient with albinism, neutropenia, immunodeficiency, @PHENOTYPICFEATURE$, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and @DISEASE$.	false
+7ec8f9d0d1e55ad6bdd96ea6733635f694b03ab0	Other clinical manifestations, such as @DISEASE$, neurodevelopmental delay and @PHENOTYPICFEATURE$, are present in some of these syndromes.	false
+14350073d3614e689206cfb46f348276191ee734	Other clinical manifestations, such as @DISEASE$, @PHENOTYPICFEATURE$ and skeletal abnormalities, are present in some of these syndromes.	false
+fb0ab48a5055ef9ee758214c30e03b65e0dbec81	Humoral @DISEASE$ with facial dysmorphology and @PHENOTYPICFEATURE$: a new syndrome.	false
+445cf683d07750b98d99f7bc7a210254a190ee10	Progressive multifocal leukoencephalopathy (PML) is still a underinvestigated @PHENOTYPICFEATURE$, often linked to HIV-related @DISEASE$.	false
+c022401ce83bcdfc913c090477e52d1b222dcc2c	HPS10 is a severe condition that manifests with symptoms of oculocutaneous albinism, @PHENOTYPICFEATURE$, platelet dysfunction, and @DISEASE$.	false
+223adac5749eaa63fec80f91ef0fefed783e76a2	Relatively little is known about how young children with @PHENOTYPICFEATURE$ (HI) learn novel words in infant- and adult-directed speech (@DISEASE$).	false
+ec4516c347177d4973715c079f3e7dce6c0d25bb	The purpose of this study was to determine whether infants with @PHENOTYPICFEATURE$ (HI), like their NH peers, show a listening preference for IDS over @DISEASE$.	false
+e133d06597509686fa0863b34e1c0f959bb27683	To this well-known example, may be @DISEASE$ deafness which brings together individuals with a variety of @PHENOTYPICFEATURE$ genotypes, some being dominant.	false
+ec0d0464c98ff9e4d342f6d04f9c7e371bea6885	To this well-known example, may be @DISEASE$ @PHENOTYPICFEATURE$ which brings together individuals with a variety of deafness genotypes, some being dominant.	false
+a3b10dece371cd4d6b9e5db1f038d9ecd25832bb	Intermittent neurodevelopmental evaluation especially for @PHENOTYPICFEATURE$ should be performed in most of the @DISEASE$ patients.	false
+81b3f7c30830e7f940cb5b2552ba28026f4229df	Familial Danish Dementia (FDD), an early-onset non-amyloid-? (A?) cerebral @PHENOTYPICFEATURE$, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (@DISEASE$).	false
+37a137168903fa373aa89eae787d960dd77211e3	@PHENOTYPICFEATURE$ and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (@DISEASE$-SCID).	false
+ed3ecd7e906a4f40973f9fe4db053a4bf57d7c31	@PHENOTYPICFEATURE$ and rapid fatal hepatic failure in severe combined immunodeficiency caused by @DISEASE$ (ADA-SCID).	false
+c90213093046e71650120df4fb6d10f3723af7d0	@PHENOTYPICFEATURE$ and vasodilation in response to AR agonism (2-chloroadenosine) were unaltered by @DISEASE$, while A1AR deficiency eliminated the heart rate response.	false
+274c946116b360ffde9b400c6b88c0c6d1941e84	The diagnosis of @PHENOTYPICFEATURE$ (HF) with preserved ejection fraction requires evidence of grade 2 or 3 (advanced) diastolic dysfunction (ADD), but many patients with @DISEASE$ do not have clinical HF manifestations, hence termed pre-clinical diastolic dysfunction (PDD).	false
+e2f9e064b3579a346e37118c02c1b055e1c089b1	The diagnosis of @PHENOTYPICFEATURE$ (HF) with preserved ejection fraction requires evidence of grade 2 or 3 (advanced) diastolic dysfunction (@DISEASE$), but many patients with ADD do not have clinical HF manifestations, hence termed pre-clinical diastolic dysfunction (PDD).	false
+632fed5bca0c55d0357db3f46d17f570c1909adc	Furthermore, RCC cells treated with @DISEASE$ showed remarkable @PHENOTYPICFEATURE$ in a dose dependent manner.	false
+a8feed3ec45272124d692ee8bb39d94615202fe1	@DISEASE$ obesity to the problem list increases the rate of providers addressing @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0e50f0014704285538b6eebd0361a60d9647bd59	@PHENOTYPICFEATURE$ is usually the presenting feature of @DISEASE$.	false
+03991607af93447f7a42832194ebf5df88441dfc	Ultrasound evaluation of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4253f8fd574bd4d2708e6870528aa56a9f3a8a83	[@PHENOTYPICFEATURE$ in the @DISEASE$].	false
+1a9aa38222bb87968a3df07cdc4690800b1b05ef	[@PHENOTYPICFEATURE$ in @DISEASE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+1859a4ee6aa78f24660be6f3c6a19d21dbee1616	The differentiation of the @DISEASE$ from so-called osteosclerotic myeloma with @PHENOTYPICFEATURE$ appears to have no clinical value.	false
+8b2568a0d110c7b652ffd8ef076aa7ede88dc124	The differentiation of the POEMS syndrome from so-called @DISEASE$ with @PHENOTYPICFEATURE$ appears to have no clinical value.	false
+2b9df55208de1d1ada22bd16587636f8c62d63dc	@PHENOTYPICFEATURE$ in @DISEASE$: clinical and electrodiagnostic improvement with chemotherapy.	false
+62e3ba11c66a3a17db269ee538523e3c470c79db	Successful treatment of @PHENOTYPICFEATURE$ with chemotherapy in @DISEASE$.	false
+522ecf7e16d0f94e5bdae5cdc62199106c1f710c	Causes of death included graft failure, infection, cardiac events, hemorrhagic stroke, respiratory failure, malignancy, pulmonary hypertension, complications of @DISEASE$ syndrome, anesthetic complication, and @PHENOTYPICFEATURE$ renal crisis.	false
+32cabf5fbb7f4fb4fda7e04e5db9449fc3bfb403	Studies have examined the success of @DISEASE$ at saphenous closure and improving leg pain and @PHENOTYPICFEATURE$.	false
+d11dfeb04edd838898190f4ca04ea4bc6a5a75f7	The absence of dystrophin leads to myofiber membrane fragility and necrosis, with @DISEASE$ @PHENOTYPICFEATURE$ and contractures.	false
+80cbb7a7b4981108c8ac01fb994a5b9969f0b316	Extravasation of contrast medium may results in severe pain, erythema, cyanosis, and @PHENOTYPICFEATURE$ or @DISEASE$ skin necrosis, which is largely related to the ionization, osmolarity, and volume of the contrast medium.	false
+7b6cd6c397c12b28bff264ab8065c83beb933cab	Zika virus (ZIKV) infection is closely associated in the fetus with @PHENOTYPICFEATURE$ and in the adults with Guillain-Barr? syndrome and @DISEASE$ male infertility.	false
+6f3e766183016323a9731456df3214b9b084ee10	Nephrotic syndrome (NS) is a clinical state characterized by massive proteinuria, hypoalbuminemia, and @DISEASE$ @PHENOTYPICFEATURE$ formation.	false
+050935278d7ec37285596d80cbc22ad97a461eb4	Pain (@DISEASE$ and NRS-101), postoperative @PHENOTYPICFEATURE$, trismus, temperature, dysphagia, and hematoma will be evaluated after 1, 2, 5, and 7 days.	false
+f7e7040ebdeff29d211d59dde6bb584484672ba8	Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease characterized by the progressive degeneration of upper and lower motor neurons (MNs), leading to @PHENOTYPICFEATURE$ and @DISEASE$ respiratory failure.	false
+ae292ee610c54fca5034ef53972e1df5b32e4fdd	@PHENOTYPICFEATURE$-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corneal keratinocyte loss, limbal stem cell deficiency (LSCD), and @DISEASE$ blindness.	false
+3d343c95c6bcad96aa80ec1cf8b3a58ca4ba8535	The primary endpoint was the overall incidence of cardiac @DISEASE$ (cardiac death or sudden death, myocardial infarction, hospitalization for angina pectoris or heart failure, serious @PHENOTYPICFEATURE$, and coronary interventions).	false
+5716c58b9c7ee368637d1f91e3844479f063b0e0	Histopathology typically shows spongiform subcorneal and/or intraepidermal pustules, a marked @PHENOTYPICFEATURE$ of the papillary dermis, and @DISEASE$ vasculitis, eosinophils and/or focal necrosis of keratinocytes.	false
+75ce2321222c6f753b433be5378805f67be7855e	@PHENOTYPICFEATURE$ and premature ovarian failure have not previously been associated with @DISEASE$.	false
+df6cbc34ebe55e3c1e2656ba0debfc5d35db8e36	@PHENOTYPICFEATURE$ and @DISEASE$ among Swedish chemistry graduates.	false
+abb5aad38171897e5cf4af45e00117e47b80dcd5	Hematologic disease (@DISEASE$ and @PHENOTYPICFEATURE$) was diagnosed in 482/1190 (40.5%) and metastases in 708/1190 (59.5%) cases.	false
+a1cbdab3528b02b47392c37114c6116e1a359a30	Mortality was analysed by decade of diagnosis, for all sites, and for @PHENOTYPICFEATURE$, @DISEASE$, and central nervous system tumours separately.	false
+f097610977311827b111cd01d0bffef63591877e	In @DISEASE$ (HL), tumor @PHENOTYPICFEATURE$ indicates poor prognosis, probably caused by eosinophil-induced stimulation of tumor cells.	false
+32b8a1add44d91d9f884f69ffadc2f7d1359c20b	@PHENOTYPICFEATURE$ and multifocal vertebral involvement with @DISEASE$.	false
+7e2833decb779d660e79f99bd8f5ca8d34618b2d	Skeletal manifestations of @PHENOTYPICFEATURE$, @DISEASE$, and non-Hodgkin lymphoma.	false
+3f64d93e9be8ab87ade6930996086aeff65dbf60	Rheumatic manifestations in @DISEASE$, @PHENOTYPICFEATURE$ and allied conditions.	false
+3650a7c8eee5d9125deebf9c9ae31523a2c52d3d	Eosinophils frequently infiltrate tissues involved by @DISEASE$ (HD), and blood @PHENOTYPICFEATURE$ is frequently observed.	false
+acd2a01cd4ab0ffa70d92cd650f031f6ef5195ca	High cytokine expression and reduced ovarian reserve in patients with @DISEASE$ or @PHENOTYPICFEATURE$.	false
+c257d959828fdf7020dba76246b064bd2202a20d	This difference is not due to @DISEASE$ or @PHENOTYPICFEATURE$ and remains unexplained.	false
+0c523f4cd49b3a44e6f962b68a18768840bbe9e6	@DISEASE$ methylation capacity and @PHENOTYPICFEATURE$ are associated with insulin resistance in obese children and adolescents.	false
+31846010f149f4cb79362348de096cbb52b62feb	Muckle and @DISEASE$ is revealed by episodes of fever with urticaria and arthralgia, complicated by @PHENOTYPICFEATURE$ and amyloidosis.	false
+826623f8779a0f0fdc90f1c1ca06365b971bfb26	At a consultation with a 31-year-old man, motivated by painful episodes of joint pain that had started considerably earlier, a familial disease entity was discovered that included the three clinical signs of the Muckle and @DISEASE$ : urticarial eruption, intermittent pain in the limbs originating in the joints, and bilateral @PHENOTYPICFEATURE$ of perception.	false
+02cf6c458f66997c4b590ae5533726480969842d	[An unusual form of the Muckle and @DISEASE$: perception @PHENOTYPICFEATURE$, hypogonadism, repeated febrile urticaria and arthritis, with renal insufficiency].	false
+8eaee332dff89952541c4bf3fd34d748dfe1b994	@DISEASE$ and @PHENOTYPICFEATURE$ result in severe bone loss: a case report.	false
+6300430d5e5f22830ef133e3816ef334b450ec83	Severe @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+17d8c131a88bf39f6c29e35fdff4734a5bd67c77	The authors examined predictors of functional and cognitive disability, institutionalization, and death, as well as time to the development of psychosis (e.g., delusions, hallucinations), extrapyramidal signs (@DISEASE$), diurnal @PHENOTYPICFEATURE$, and depression in 185 patients with definite AD and 60 with autopsy-confirmed AD+LB.	false
+b2047f9c1d3bb30984ba242d873ed708b3b28b6b	Patients with AD+LB can develop @DISEASE$ and diurnal @PHENOTYPICFEATURE$ earlier and have faster time to institutionalization than those with AD alone, but cognitive and functional decline and physical survival are similar between these two entities.	false
+a913f1f61aba8e54428d3e91fddcc7b083ad709c	@PHENOTYPICFEATURE$, @DISEASE$, and clefting syndrome.	false
+8f251f080970ea1fcb90cae4424140c890f41613	Structural @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0aa2475fa538d0ec9fae31d2aa342e3b2f0bccc6	Ectrodactyly, @DISEASE$, and cleft lip/palate (EEC) is a rare syndrome having @PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft lip/palate.	false
+1459fa5d2e634a5afbd67f17250105bc44425ac2	@PHENOTYPICFEATURE$, @DISEASE$, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate.	false
+660f28e4125a64f693ce8f37ded547249bec0bae	@PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, @DISEASE$, and cleft lip/palate.	false
+48f8f759dacfe6f86b7d7f71d2001f8748c11407	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having @PHENOTYPICFEATURE$, @DISEASE$, and cleft lip/palate.	false
+00bbe814fe96046e335653e839c836c368e964bf	[@DISEASE$ and familial @PHENOTYPICFEATURE$].	false
+5da932b1d27160556657d8821b4eb48dc2ee1d33	We report a 2-year-old girl with a combination of the @DISEASE$, ectrodactyly, cleft lip/palate (EEC) syndrome, distinctive @PHENOTYPICFEATURE$, scalp dermatitis and atopic disease.	false
+b70d4ad06535224d6b107a720b1dff6c428f8537	We report a 2-year-old girl with a combination of the @DISEASE$, @PHENOTYPICFEATURE$, cleft lip/palate (EEC) syndrome, distinctive hair abnormalities, scalp dermatitis and atopic disease.	false
+2e01ffb0c4b9c42d5bdeb2c126fe5ebf1fd391d9	@DISEASE$, ectrodactyly, cleft lip/palate syndrome without @PHENOTYPICFEATURE$.	false
+ee5f93444a4ddca67ca29b35c0de3ebed27a475c	@DISEASE$, @PHENOTYPICFEATURE$, cleft lip/palate syndrome without ectrodactyly.	false
+e0e14d1bb8b9937b706cb7d393946d9cb3859b3f	The @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectrodactyly, @DISEASE$, and clefting.	false
+0f60c9be073348d05b5f84768b8529ddd956847b	The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, and clefting.	false
+21b1053f843c54609692570ad0efa42e9e2fd596	The ectrodactyly-@DISEASE$-clefting (EEC) syndrome is characterized by @PHENOTYPICFEATURE$, ectodermal dysplasia, and clefting.	false
+016d36a4388c775bc2ae2f5432a5dd8eb63067b9	The @PHENOTYPICFEATURE$-@DISEASE$-clefting (EEC) syndrome is characterized by ectrodactyly, ectodermal dysplasia, and clefting.	false
+e3f86c43b69b02d7f9174a57b6845e9745efa89e	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and @PHENOTYPICFEATURE$ of the palms and soles.	false
+c6b89d05cd48a891eaec02839d656932866f143c	Odonto-onycho-dermal dysplasia (OODD) is a rare form of @DISEASE$ characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+686887f2a24458fb9f7c2240f56cc57fe34edc61	Staphylococcal endophthalmitis following @PHENOTYPICFEATURE$ extraction in a patient with @DISEASE$.	false
+fe92c31568f8005d305f235edf01fc417ff6d12c	We report a case of endophthalmitis after @PHENOTYPICFEATURE$ surgery in a patient with @DISEASE$.	false
+aa6e17ef8f313acf3e40240dd0cf4cd96c88acb8	A 22 year-old Saudi patient is reported who had @DISEASE$ (Keratosis follicularis), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, @PHENOTYPICFEATURE$ and corneal opacities.	false
+51eb2f69ae4773900730735553f336fae74ca630	A 22 year-old Saudi patient is reported who had Darier-White disease (@DISEASE$), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, @PHENOTYPICFEATURE$ and corneal opacities.	false
+fed41fd3d7ddd4961ca5354c0c9e32bcd32b435e	(@DISEASE$)] and the @PHENOTYPICFEATURE$ volumes [P=0.011	false
+0e416424e584f4f6bb297e55763b456204e308c4	Decreased apparent diffusion coefficient (@DISEASE$) maps reveal ischemic areas displaying cytotoxic @PHENOTYPICFEATURE$.	false
+254f2b8624bab4640baa848397cb97bd116ce21a	increased apparent diffusion coefficient (@DISEASE$) reflecting cytotoxic @PHENOTYPICFEATURE$.	false
+7ce736067da17cd6ab0616d8c2b9e9ede88e57b8	Cytotoxic @PHENOTYPICFEATURE$ and fibrosis were considered as reasons for @DISEASE$ decrease.	false
+fb3556b29927a4abb7e34e93dd0fb2b0b906d87b	Cytotoxic edema and/or vasogenic @PHENOTYPICFEATURE$ on DWI/@DISEASE$ maps may be associated with uremic encephalopathy.	false
+115ecf5c065ab5db71f5ab48c3d48bda1ea7741b	Cytotoxic @PHENOTYPICFEATURE$ and/or vasogenic edema on DWI/@DISEASE$ maps may be associated with uremic encephalopathy.	false
+df481b7a51a6eaa968bb6e77055cd4b1593a920c	We observed that in regions of @PHENOTYPICFEATURE$, the @DISEASE$ was reduced, signifying a predominantly cellular edema.	false
+779a2a5ecbeed13e9b9200121d8c2546dcecbb8f	We observed that in regions of edema, the @DISEASE$ was reduced, signifying a predominantly cellular @PHENOTYPICFEATURE$.	false
+c93e4b05e19fa13ecd1cfd7612c5ad8aa480e864	FLAIR, DWI, and @DISEASE$ maps were interpreted to evaluate the severity and type of @PHENOTYPICFEATURE$.	false
+66b1f1592322017564c335dca0178475b50d79fa	Histogram parameters of whole lesions for distributed diffusion coefficient (DDC), heterogeneity index (?), and @DISEASE$ were calculated by two radiologists and compared among benign lesions, @PHENOTYPICFEATURE$ (DCIS), and invasive carcinoma confirmed by pathology.	false
+b758b2cf9ee83c04ba9a78626ac831c11bc4c3ec	Higher ADC values have been associated with vasogenic @PHENOTYPICFEATURE$, and lower @DISEASE$ values with a predominantly cellular form of edema.	false
+0d7f3d8ff16a172e2d1b2bc3a3d6e2154b628124	Higher ADC values have been associated with vasogenic edema, and lower @DISEASE$ values with a predominantly cellular form of @PHENOTYPICFEATURE$.	false
+13a5827d47f52ce93a91eb36be481b5bb9e4546b	Muscle @PHENOTYPICFEATURE$, apparent diffusion coefficient (@DISEASE$), and fractional anisotropy (FA) were assessed.	false
+f25613eb97f54c6c59298355c103ebeb5f91b42a	Two unrelated patients showing hyperkeratosis of relatively late onset have been found who developed esophageal carcinoma, while previously reported families with dominantly inherited @DISEASE$ and with esophageal stricture, also showed late onset of @PHENOTYPICFEATURE$.	false
+e4be92d077ba6f5269bde4719065b2a1277eac11	Benign lesions such as leukoplakia, solitary varix, @PHENOTYPICFEATURE$, heterotopic gastric mucosa, esophagitis, and dysplasia should be discriminated from @DISEASE$, especially from mucosal cancer (ep-cancer, mm cancer).	false
+023159af9201e9462f8ea0b1c96d534cbad3b3f6	However, there are few reports on chemoradiotherapy for @DISEASE$ invading into the trachea with administration of steroids to prevent tracheal @PHENOTYPICFEATURE$.	false
+68a22acf804b3edbf7c3015cf381d2973445a25d	@PHENOTYPICFEATURE$ and Strong Family History of @DISEASE$: Tylosis or Not?	false
+3ddb954988c9bb477106b65af40104ac8bb91dec	@DISEASE$, @PHENOTYPICFEATURE$, and oral leukoplakia.	false
+f26fcd2010a9b398e336daabbad0a5d803e95a72	@DISEASE$, @PHENOTYPICFEATURE$, and oral leukoplakia: follow-up family study.	false
+4897f7121624ee6d8504c0e5158042106ffd7c18	Aflatoxin causes liver cancer, and is associated with acute liver toxicity and immunotoxicity; while fumonisin is associated with @PHENOTYPICFEATURE$ in infants and @DISEASE$.	false
+9493a3d9c87e050efafc47a30d016d3642dd649d	Presentation of cystic fibrosis (CF) with an @DISEASE$-like skin rash, @PHENOTYPICFEATURE$, and hypoproteinemia without pulmonary disease is rarely reported before.	false
+32b86e3697b1f013bae794f6cadee385b55fa267	WCD therapies, automatically recorded @PHENOTYPICFEATURE$ episodes, inappropriate WCD alarms, patient compliance, and outcome after @DISEASE$ prescription were analyzed.	false
+e0aa443f636cf61938360d3296f9bd693ae93b52	@DISEASE$," cerebral anomalies, and @PHENOTYPICFEATURE$: report of a new syndrome and discussion from a developmental field perspective.	false
+49f0e20317aa3d10f686f5f438136c44a41e636b	Acromelic @DISEASE$": further delineation of a subtype with brain malformation and @PHENOTYPICFEATURE$ (Toriello syndrome).	false
+a9f4b53b944f37d98b4c2f3aebcfac5d56b30c2c	Atypical presentation of @DISEASE$ in an adolescent boy with frontal lobe located Aspergillus abscess mimicking intracranial @PHENOTYPICFEATURE$.	false
+ee64a18d18f2da23e8efa2cc7e37dc1d346e1006	Chloroquine exerted a direct pH-dependent antifungal effect on Aspergillus fumigatus and Aspergillus nidulans; it increased the antifungal activity of PMNs from patients with CGD at a significantly lower concentration, compared with the concentration for PMNs from healthy individuals; and decreased the hyperinflammatory state of PBMCs from patients with @DISEASE$, as observed by decreased @PHENOTYPICFEATURE$ necrosis factor ? and interleukin 1? release.	false
+423e2fd08b7601a9ebde1c72001fcc52e75cf9df	Chloroquine exerted a direct pH-dependent antifungal effect on Aspergillus fumigatus and Aspergillus nidulans; it increased the antifungal activity of PMNs from patients with @DISEASE$ at a significantly lower concentration, compared with the concentration for PMNs from healthy individuals; and decreased the hyperinflammatory state of PBMCs from patients with CGD, as observed by decreased @PHENOTYPICFEATURE$ necrosis factor ? and interleukin 1? release.	false
+4a60a7fdf235b70de3e7ab34cf5a382a7b06d82a	The diagnosis should be considered early in the etiological investigation of any suspicious skin lesions in @DISEASE$ even in uncommon aspects such as burgeoning @PHENOTYPICFEATURE$.	false
+b416ed24902a139885b7ea2e43385af050614b87	Both in the presence of a NOX2 inhibitor and in DCs derived from patients with @DISEASE$, the cross-presentation of 2 model @PHENOTYPICFEATURE$ antigens was impaired.	false
+5e348b445fac914297da4cf19a3f63e314b545dd	PMN from a patient with chronic granulomatous disease (@DISEASE$) showed normal antibody-dependent cell-mediated cytotoxicity (ADCC) against K562 @PHENOTYPICFEATURE$ cells but were not able to lyse these targets after PMA stimulation.	false
+a0b9a39492c1b74bf87f1dede488a587212d7919	PMN from a patient with @DISEASE$ (CGD) showed normal antibody-dependent cell-mediated cytotoxicity (ADCC) against K562 @PHENOTYPICFEATURE$ cells but were not able to lyse these targets after PMA stimulation.	false
+b9963543f0aa642ba71aba0a1e2fddcee7284734	To determine the usefulness of a GnRH agonist analog as a diagnostic test to distinguish between constitutional delay of growth (@DISEASE$) in boys with Tanner stage I of sexual development and patients with @PHENOTYPICFEATURE$ (HH), we evaluated six boys (mean age 15 yr 4 m) and five HH patients (mean age 20 yr 4 m).	false
+168329e4bf4cd9dd7740a5c219ad21ddc01cd331	This is the third example that we are aware of, where @DISEASE$ granulomas were mistaken for @PHENOTYPICFEATURE$.	false
+210a412332ffff0e4c4d8b2a7d88b1cef7968e74	We describe an unusual case of invasive cutaneous aspergillosis presented as a large burgeoning @PHENOTYPICFEATURE$ in a 4-year-old girl with @DISEASE$ who underwent surgical treatment for bifocal osteomyelitis of the left leg.	false
+cf06465df3c0c6983a064b25f40b2b387a9dbc2c	Here we report the favorable outcome after bone marrow transplantation in three high-risk adult @DISEASE$ patients (ages 18, 35, and 39) with severe disease-related complications (overt pneumonia, liver abscess, steroid-dependent granulomatous colitis, diabetes, restrictive lung disease, @PHENOTYPICFEATURE$, epilepsia).	false
+5ae4a0be95f1e5644f40e60b0a871de14625062a	During ADCC normal neutrophils, but not neutrophils obtained from @DISEASE$ patients, triggered the oxidation of dihydrorhodamine 123 and dihydrotetramethylrosamine within @PHENOTYPICFEATURE$ cells.	false
+1f93774dfa9c6228fe2d4cdc3f7774eca7d620a3	Although @DISEASE$ is the most common type, the patient's @PHENOTYPICFEATURE$ surgery elicited the possibility of an iatrogenic transmission.	false
+ab136b91e84f94fbec083314df80350ba82091db	CT typically demonstrates @PHENOTYPICFEATURE$, generally progressive, but in @DISEASE$ midfield MRI also showed abnormal signal, with predominant deep grey matter involvement.	false
+050fd2d26eb9a5615a699e1e87b32fb617a16ec9	It is important to consider whether visual symptoms are a manifestation of @DISEASE$, rather than @PHENOTYPICFEATURE$ surgery resulting in iatrogenic CJD.	false
+a169669c74af7e10ceae7cd7c14554d2713605f6	@DISEASE$ is a commonly referenced, infrequently reported and poorly documented benign inflammatory pseudotumour, which may be misdiagnosed as a malignant @PHENOTYPICFEATURE$.	false
+66e8298f92a6f2077f7e6f1d984ae5a2b31f7d25	The imaging tests suggested a soft tissue @PHENOTYPICFEATURE$ but the muscle biopsy revealed the typical findings of @DISEASE$.	false
+ee5d2fbe87506fe6980a7b773786278c6cc51ee0	@DISEASE$ can present as a cervical @PHENOTYPICFEATURE$.	false
+bb04261678339a883990b380dd214ee47e70d940	Enlargement of the calf usually is associated with venous thrombosis, haemorrhage, @DISEASE$ or a @PHENOTYPICFEATURE$ in bone or muscle.	false
+3b13212523c4f9a71a4e94d652c72ceaa371b569	Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), @DISEASE$ (PRTS), X-linked infantile spasms (ISSX), @PHENOTYPICFEATURE$ epilepsy with spasticity and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).	false
+c40382bcd352f671545eabee90fb750c5b4d4ebb	Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked @PHENOTYPICFEATURE$ epilepsy with spasticity and intellectual disability, @DISEASE$ (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation.	false
+629cfb4eb7425564baeb0cdfe92a9280f723778b	Histological examination was done to determine changes in histology such as thickness of granulation tissue, tissue @PHENOTYPICFEATURE$, neutrophil infiltration, and the microvascular density (@DISEASE$).	false
+59b0cd607c7435cc50406989932d8acb86a4f69e	The correlation between PDVI in the gliomas and the adjacent @PHENOTYPICFEATURE$ and @DISEASE$ in the corresponding areas were analyzed using Spearman correlation test.	false
+11464f976614f588bb69bf903273fc9e27d62d63	A trend of positive correlation was observed between AQP1-immunopositivity and increasing grade, higher MIB-1LI, increasing contrast-enhancement and more perilesional @PHENOTYPICFEATURE$, and elevated @DISEASE$ with raised AQP1:MVD ratio.	false
+72c9dbdb7623593cf0cee7bf47e42ca6311f4040	The purpose of this study was to evaluate the relationship between CT perfusion (CTP) parameters and microvessel density (@DISEASE$) of HPCs and compare CTP parameters in parenchyma and peritumoral @PHENOTYPICFEATURE$ of HPCs.	false
+62e900e2072b592c41408b4dce33476f32eeba56	To investigate the correlation between power Doppler vascularity index (PDVI) and microvessel density (@DISEASE$) and evaluate the angiogenesis in high-grade gliomas and the adjacent @PHENOTYPICFEATURE$ in patients with glioma using intraoperative power Doppler ultrasound (PDUS) during gross total resection.	false
+bab307adc33d3d7cacce424557a8ff809125ed46	P<0.01), and PDVI was positively correlated to @DISEASE$ measurement (r=0.7248 in the tumors and r=0.6608 in the adjacent @PHENOTYPICFEATURE$).	false
+1e7cb9d006e619e81634b96abe83949462aa91b2	Furthermore, the upregulation of Dll4-Notch signaling components was correlated to a low @DISEASE$ and was potentially related to a classic VP, tumor @PHENOTYPICFEATURE$, and MGMT promoter methylation.	false
+7a726d4fd74c7a628bb88e851d4b7a0b634416d5	The measurement of both PVDI and @DISEASE$ revealed significant difference in vascularity between the gliomas and the adjacent @PHENOTYPICFEATURE$ (t=0.000,	false
+219b9d817daa1724f0b197f1cafb58c4cc8446bb	Moreover, loss of PDCD10 was associated with a higher @DISEASE$ and a more severe peritumoral @PHENOTYPICFEATURE$ but not with MGMT promoter methylation in GBM.	false
+f1d6f5df16f56f6958ad94c869c1e9415e305809	A total of 131 histological preparations [oral leukoplakia/hyperkeratosis without dysplasia (OL; n = 49), oral leukoplakia/@PHENOTYPICFEATURE$ with mild dysplasia (OL-SIN1; n = 33), with moderate dysplasia (OL-SIN2; n = 13) and leukoplakia-derived oral squamous cell carcinoma (OL-OSCC; n = 36)] were evaluated for microvessel density (@DISEASE$), vessel diameter as well as for vascular endothelial growth factor (VEGF-A) expression.	false
+ba13b7db6931898b7a12fd18a820dd14c79046be	A total of 131 histological preparations [oral leukoplakia/@PHENOTYPICFEATURE$ without dysplasia (OL; n = 49), oral leukoplakia/hyperkeratosis with mild dysplasia (OL-SIN1; n = 33), with moderate dysplasia (OL-SIN2; n = 13) and leukoplakia-derived oral squamous cell carcinoma (OL-OSCC; n = 36)] were evaluated for microvessel density (@DISEASE$), vessel diameter as well as for vascular endothelial growth factor (VEGF-A) expression.	false
+a0fe5739db733d1580482419f2af37b269bbcc16	Clinically, this patient shows signs of both @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8d389c48b151885de720c2a4b5e8395f89c41889	Pharyngeal cervical @DISEASE$: dysphonia and @PHENOTYPICFEATURE$.	false
+0ca8286b7579d5fb14eb13273c3994ca3b7284a6	The present study reports the case of a 30-year-old male with pancreatic @DISEASE$ presenting with weight loss and @PHENOTYPICFEATURE$.	false
+3372ece250053164653989540ece46729af6ba3b	Out of 192 biopsies performed in 169 patients with @PHENOTYPICFEATURE$, lung cancer was diagnosed in 125 patients (73%), in two hilar cysts, in one an intercostal @DISEASE$ were diagnosed.	false
+b8ca4cc01cad31859cb78eb571b44b41f49992a5	@DISEASE$ of the brachial plexus mimicking an apical @PHENOTYPICFEATURE$.	false
+460c3d9ab31c21e48a9db3c863749d14e4b215f2	The patient with vagal @DISEASE$ developed hoarseness and @PHENOTYPICFEATURE$, which resolved without intervention.	false
+1fc74f662c001596c6150ab2248b69b2d91082e5	We report a case of @DISEASE$ in psoas muscle, difficult to make a preoperative differential diagnosis from multilocular @PHENOTYPICFEATURE$ in a 44-year-old woman.	false
+d76e2867abcc208f99ad8ab3ab3502057d277ebe	We report a patient with @DISEASE$ of the spinal accessory nerve, who complained of intermittent occipital headaches, nausea, @PHENOTYPICFEATURE$, blurred vision and unsteady gait.	false
+e72bbdb31d5a9e5f7e1d42836f15b229b3fd62d1	@DISEASE$ of the psoas: An unusual cause of @PHENOTYPICFEATURE$.	false
+2a6e51e98b79a0b17e96fdc2d72d650aa959c4b9	The most common symptoms of a gastric @DISEASE$ are @PHENOTYPICFEATURE$ or dyspepsia, gastrointestinal bleeding, and an abdominal mass.	false
+e7fd9437ad9a5b67dcfee08b060e2a1fb61e2e69	A 46-year-old female presented with a rare association of cerebellopontine (CP) angle meningioma with accessory nerve @DISEASE$ manifesting as headache, occasional diplopia, speech disturbance, @PHENOTYPICFEATURE$, and unsteady gait.	false
+1aac0be83dfc37dfd9bcbd8a35e296d271882ce4	We report a case of dilated cardiomyopathy in association with @DISEASE$ in a 23-year-old man with the acute presentation of @PHENOTYPICFEATURE$.	false
+7bc086d5be835367c56daaaa7fdbd8ba60d74bf4	This patient did not exhibit any of the typical features of @DISEASE$ primarily seen in affected infants, such as a severely deformed skull, an apical shaped skull, or @PHENOTYPICFEATURE$.	false
+ab8c27a5a5c795f6a05c4c4fed9839b5daa90b33	@DISEASE$ is an autosomal dominant condition of the craniosynostotic syndromes without @PHENOTYPICFEATURE$ and with various dentofacial anomalies.	false
+f1bcb8a4a296da66849293520dbb1c5ce1a3d385	Acrocephalosyndactyly, or Apert's syndrome, described nearly a century ago, is a @DISEASE$, an autosomal dominant condition characterized by severe development disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, symmetric @PHENOTYPICFEATURE$ of the hands and feet, cone-shaped calvarium, pharyngeal attenuation and malocclusion.	false
+3099e813790b18403e0f8ffbed57ea781eda95d2	Apert syndrome, or acrocephalosyndactyly type I, is a @DISEASE$, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric @PHENOTYPICFEATURE$ of the hands and feet.	false
+dac3fa80d803d6504e480d485701dbd0b4fdcda1	Apert-@DISEASE$ (formerly ACS type 2; 10130) is now considered a subset of autosomal dominant Apert acrocephalosyndactyly type 1 (10120), with features of craniosynostoisis, @PHENOTYPICFEATURE$ of all extremities, maxillary hypoplasia, "parrot-beaked" nose, hypertelorism, exophthalmos, external strabismus, and short upper lip.	false
+06a210bfd84ec2757c3329f24c91ed8676509f65	A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, @PHENOTYPICFEATURE$ and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to have @DISEASE$ on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i antibodies) findings.	false
+fec88ebbd580c2cfdb16bcf84666d6f7da3558df	Much less pigment was seen in nodes draining livers with non-@DISEASE$ or primary @PHENOTYPICFEATURE$.	false
+2dd7075a02ec2ca028971a2d7836a21ccfadd9aa	Lack of immunological or molecular evidence for a role of mouse mammary @PHENOTYPICFEATURE$ retrovirus in @DISEASE$.	false
+1fe1152757c29e3502a38de86713ac60b1d4bee2	Decreased in vitro production of @PHENOTYPICFEATURE$ necrosis factor in @DISEASE$ patients.	false
+2d0f2f11c269ac565b093080893508a7519701c8	Hepatocellular carcinoma (HCC) is an aggressive @PHENOTYPICFEATURE$ that frequently develops in patients with @DISEASE$ (PBC).	false
+228701059d94139904cee5652b5192c60deb07a6	The percentage of CD44(+)CD24(lo) CSC in the BM is higher in @DISEASE$ patients with high risk @PHENOTYPICFEATURE$ features.	false
+5b00bf6891339147ea4d84d79f7ea2b986fbcd6c	We investigated 22 HCCs and, as controls, their corresponding @PHENOTYPICFEATURE$-free liver tissues, seven livers with @DISEASE$ and four morphologically normal livers.	false
+8db5ffd50227910608267b61cfc16d9c16d062f4	Costs vary between @PHENOTYPICFEATURE$ types, being significantly higher for LPD compared to @DISEASE$ patients.	false
+903cf253500bad544be828f7793b233f45659d94	When compared with echovirus 19, @DISEASE$ was of low or absent epidemicity, and similar to @PHENOTYPICFEATURE$ in its uniform geographical distribution and lack of clustering.	false
+3fc6aee3e51048d90c98f42973e0b20aaa95cc2a	Bupropion for fatigue and as a @PHENOTYPICFEATURE$ necrosis factor-alpha lowering agent in @DISEASE$.	false
+d0c9912c7241c0d63fce1f5ab9b6dad8e775a66e	A 50-year-old woman with @DISEASE$ developed immune hemolytic anemia and @PHENOTYPICFEATURE$ while receiving rifampicin for the treatment of refractory pruritus.	false
+2af0baec885f50cfe297e796f19fb1eb414af9be	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include @DISEASE$, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+cdf402ce698a4a096b6c04a3f6c93654f7da4243	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include @DISEASE$, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+1a3395621cb4a31e8d4a5ab68ada39565f535cb0	In the current series, there were no examples of posttraumatic BLC, multiple sclerosis, @PHENOTYPICFEATURE$, or blepharospasm conditions previously reported to be associated with @DISEASE$.	false
+a5364eeed02696097123fca0ff89ad30640e69a7	Exertional myopathies include polysaccharide storage myopathies, recurrent exertional rhabdomyolysis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+0f9e172587e1278b62e161bed07eab15d5d684cb	In 5 patients @DISEASE$ was associated with another @PHENOTYPICFEATURE$.	false
+111a521d76dab6946b1955682b8db1658a63deb7	The oral findings include multiple gingivolabial frena, @PHENOTYPICFEATURE$, malocclusion and @DISEASE$.	false
+900fef0a98cbe40502ecb3478f49373f4ab4fd62	@DISEASE$?oligodontia has been identified in association with other @PHENOTYPICFEATURE$, such as inclusion, microdontia, and enamel hypomineralization.	false
+9babbe1beb4e9218c4d8c8b15fe660a0d17a3da3	Hypodontia?@DISEASE$ has been identified in association with other @PHENOTYPICFEATURE$, such as inclusion, microdontia, and enamel hypomineralization.	false
+5208a853a9ef906f02f1809bbf019745f5f77fa3	@DISEASE$ is the most common developmental @PHENOTYPICFEATURE$ known in humans.	false
+d2e8c2dc49263f05f423752d709e645dde0bee98	Congenitally missing teeth and/or @DISEASE$ is a prevalent @PHENOTYPICFEATURE$.	false
+4ca6cc6723ade605138531f5e4ae6cc8e65e45ac	An unusual @PHENOTYPICFEATURE$ in a @DISEASE$ patient.	false
+f1d2a65505694b52b66b3ee935300c98f681bae8	@DISEASE$ is the most common type of @PHENOTYPICFEATURE$.	false
+fc57925824d270397287a53c6bfebebb97a61a01	Oligodontia or severe @DISEASE$ is a rare developmental @PHENOTYPICFEATURE$ commonly associated with syndromes and systemic abnormalities.	false
+dcc93b384d8c511f1d404e8fbeb193e712994c01	@DISEASE$ or severe hypodontia is a rare developmental @PHENOTYPICFEATURE$ commonly associated with syndromes and systemic abnormalities.	false
+700217f134b44554cb6019e1999937dd65b65f8d	Among the other @PHENOTYPICFEATURE$ @DISEASE$ was more prevalent.	false
+815a0fc90388d0e58b73058224886d9691df32f3	Clinical features of @DISEASE$ and associated @PHENOTYPICFEATURE$: a retrospective study.	false
+fb3c331e8e20330825cf7f056be7cbde412145eb	The various etiologies include idiopathic Parkinson's disease, @DISEASE$, @PHENOTYPICFEATURE$, degenerative joint disease, and drugs.	false
+c6f14b489dbd8b7c87355e898ab3d0d1342e528e	When a defined syndrome develops, it is almost always a 'synucleinopathy' (Parkinson's disease, @PHENOTYPICFEATURE$ with Lewy Bodies or @DISEASE$).	false
+2bc59c1373e57556027945a9f21b4469bae59b61	Synucleinopathies such as Parkinson's disease, @DISEASE$ and @PHENOTYPICFEATURE$ with Lewy bodies are characterized by deposition of aggregated ?-synuclein.	false
+daae1110c7b1bf31c431ec4e8aa43ffa52bac2c3	@DISEASE$ (MSA) is a rare neurodegenerative @PHENOTYPICFEATURE$ characterized by a rapidly progressive course.	false
+a9a05b4b75c2218f0b1ad7e68edc8091575db4de	@DISEASE$: insights into a rare and debilitating @PHENOTYPICFEATURE$.	false
+bc5da65a9df57b303ab8ac40f71f4ab6e1aa698d	Profile of @DISEASE$ in Moroccan patients attending a @PHENOTYPICFEATURE$ outpatient clinic in Rabat university hospital.	false
+0ef7e110a36d3b7b5d6ff211495c7d421ab76bea	Abnormal alpha-synuclein-positive glial cytoplasmic inclusions are found in Parkinson's disease, @DISEASE$ and @PHENOTYPICFEATURE$ with Lewy bodies.	false
+33c2fa718117f2c1bbeed65835ec112472c5403c	?-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, @DISEASE$ and @PHENOTYPICFEATURE$ with Lewy bodies.	false
+317251818a22aef077a4569129cfbd99660480e6	Most common diseases are "synucleinopathies": @DISEASE$ and @PHENOTYPICFEATURE$ with Lewy bodies and "tauopathies": progressive supranuclear palsy and corticobasal degeneration.	false
+5e3dea064722d474dbdda1311a4e3d03fbf3ceab	@DISEASE$ (MSA) is a neurodegenerative @PHENOTYPICFEATURE$ characterized by parkinsonian symptoms and cerebellar symptoms.	false
+1027175fcc9c39f9b9b15499c78e2777b6fe7a19	They involve various ionic channels: Na+ channels in the generalized epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) among the idiopathic generalized epilepsies, nicotinic receptors in @DISEASE$ (ADNFLE), K+ channels in benign familial neonatal convulsions, and GABAA receptors in some forms of generalized epilepsy.	false
+effd8dec00f7b13bfd8d41ddc18a56be12bdbe00	Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with @PHENOTYPICFEATURE$, @DISEASE$, benign familial neonatal convulsions and episodic ataxia type 1 with partial seizures) have been identified, shedding new light on the pathophysiology of epilepsy as these diseases are caused by ion channel mutations.	false
+56a7c03bb4edfe326121d47d32aded554fc7998e	Mutations in ligand-gated ion channel genes associated with idiopathic generalized epilepsies have been reported in excitatory acetylcholine receptor alpha4 and beta2 subunit genes linked to @DISEASE$ and in inhibitory GABA(A) receptor alpha1, beta3, gamma2, and delta subunit genes associated with childhood absence epilepsy, juvenile myoclonic epilepsy, pure febrile seizures, generalized epilepsy with @PHENOTYPICFEATURE$ plus, and generalized epilepsy with tonic-clonic seizures.	false
+5e370c60d155f7cd4939ff1456e401b456f4c40d	Mutations in ligand-gated ion channel genes associated with idiopathic generalized epilepsies have been reported in excitatory acetylcholine receptor alpha4 and beta2 subunit genes linked to @DISEASE$ and in inhibitory GABA(A) receptor alpha1, beta3, gamma2, and delta subunit genes associated with childhood absence epilepsy, juvenile myoclonic epilepsy, pure @PHENOTYPICFEATURE$, generalized epilepsy with febrile seizures plus, and generalized epilepsy with tonic-clonic seizures.	false
+dc1094b7299080a1736a05074cd80cb56b023aca	@DISEASE$ (USH2) is the predominant form of USH, a leading genetic cause of combined @PHENOTYPICFEATURE$ and blindness.	false
+b20f5fcf5847327938c7d0a3b6e05611bc603b99	USH2A mutations have been implicated in the disease etiology of several inherited diseases, including @DISEASE$ (USH2), nonsyndromic retinitis pigmentosa (RP), and nonsyndromic @PHENOTYPICFEATURE$.	false
+bd1ca04d0701fc89d6b41dfd30788c4099eadc28	Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of @PHENOTYPICFEATURE$, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and @DISEASE$ syndrome (PAPA).	false
+dbe7c46fab46957e781cd032223074ac7e1e91a1	Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of mental retardation, @PHENOTYPICFEATURE$, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and @DISEASE$ syndrome (PAPA).	false
+a6728028421c1ce38a72b6eff5e34be0ab234b6c	VIB9600 inhibits IC-induced type I interferons from plasmacytoid dendritic cells (involved in SLE), antineutrophil cytoplasmic antibody (ANCA)-induced production of reactive oxygen species by neutrophils (involved in @DISEASE$) and IC-induced @PHENOTYPICFEATURE$ necrosis factor ? and interleukin-6 production (involved in rheumatoid arthritis).	false
+0fc1cf1b891c4e2f6c35ccee1bfb7ec30d42a613	Beside malignant and benign @PHENOTYPICFEATURE$, the inflammatory pseudo-tumors group included dysimmune orbital involvement secondary to systemic vasculitis such as @DISEASE$ (ex-Wegener's granulomatosis).	false
+369045a58d2321fdc6971252a6c74426d30ca9a0	Decreased @PHENOTYPICFEATURE$ necrosis factor-? production by monocytes of @DISEASE$.	false
+f6088fe7ad79542f1c655f27c9285a4ef8cfaf18	The recently described Graded Prognostic Assessment (@DISEASE$) @PHENOTYPICFEATURE$ index stratified median survival at 2.5, 5.9, 13.1, and 21.7?months, respectively, for indices of 1-4 (p?=?.004, log-rank), which contrasted with the nonsignificant survival difference between Radiation Therapy Oncology Group Recursive Partitioning Analysis classes one and two.	false
+32adfe42d0ec2f098ffac92a1aaaba9ccba04725	When there is a granulomatous reaction in the elderly, clinicians should doubt the diagnosis and first think of tuberculosis, neoplasia or rare settings such as @DISEASE$ or granulomatous reaction due to interferon and @PHENOTYPICFEATURE$ necrosis factor-? (TNF?) blockers.	false
+7504cf568fe344e274f8fde467dca735cff79183	When there is a granulomatous reaction in the elderly, clinicians should doubt the diagnosis and first think of tuberculosis, @PHENOTYPICFEATURE$ or rare settings such as @DISEASE$ or granulomatous reaction due to interferon and tumour necrosis factor-? (TNF?) blockers.	false
+a5c9ba792d51f01f1d99b83e99a201e1f373d3b0	Middle ear conditions causing discharge include acute otitis media, infected grommets, traumatic perforations and chronic suppurative otitis media, as well as @PHENOTYPICFEATURE$ of the ear canal skin and middle ear, radiation-induced otitis externa and osteoradionecrosis of the temporal bone, tuberculosis, Langerhans cell histiocytosis, spontaneous or post-traumatic CSF leaks, @DISEASE$ and immune deficiency states.	false
+2f64e152b10af33271958d21042c56d588226941	MAMLD1 may serve as a predictor of GPA patient outcome and may also be leveraged as a possible therapeutic target for aggressive @DISEASE$ @PHENOTYPICFEATURE$.	false
+d1dd9722945e194fcf7fe84a353d2913d47a220a	e. @DISEASE$) or benign @PHENOTYPICFEATURE$ (i.	false
+d8988f3eabafc152e912550bd4f6b9cced715c9b	There are few reports of vasculitis in patients with solid @PHENOTYPICFEATURE$ and there are also few reports of paraneoplastic @DISEASE$.	false
+4ace779ce8ad1acb840d2a07fce8c677386131bf	This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and @PHENOTYPICFEATURE$, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, @DISEASE$ (Wegener granulomatosis), megaloblastic anemia, and erythroplakia.	false
+922019062c04f5e02369b23054c496573350316e	In severe @DISEASE$ (SME), multiple drug-resistant focal and @PHENOTYPICFEATURE$ types occur.	false
+c9e0655f9f7e38f554fb719d3b829430b999137a	Patient factors (age, sex, coexistent esophageal varices, @DISEASE$) and @PHENOTYPICFEATURE$ factors (location at upper esophagus, involving >3/4 esophageal circumference) for endoscopic submucosal dissection were not statistically different between the periods.	false
+ae4e7905a8a0c7e1bc37228f4c4c0de98a9f8744	The aim of this study is to compare the topographical aspect and degree of bcl-2 over-expression in potentially malignant disorders including leukoplakia, @DISEASE$ (OSMF), and oral lichen planus (OLP), with that of the oral squamous cell carcinoma (OSCC), and to determine whether bcl-2 protein can be considered as a @PHENOTYPICFEATURE$ marker.	false
+cf54dd0ef6793d4dc16942c792df51d78fd5cde1	Hereditary @DISEASE$ (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, @PHENOTYPICFEATURE$, and cutis laxa.	false
+381d55141548f1e06a8a8ebd00cee62058263a6c	Inactivating PRKAR1A mutations cause @DISEASE$ (PPNAD) or Carney complex (CNC), an inherited syndrome associated with @PHENOTYPICFEATURE$ and multiple neoplasias, including PPNAD.	false
+40df2664dd9c7144d079a916328e63759f63f72d	Inactivating PRKAR1A mutations cause primary pigmented nodular adrenocortical disease (@DISEASE$) or Carney complex (CNC), an inherited syndrome associated with @PHENOTYPICFEATURE$ and multiple neoplasias, including PPNAD.	false
+79bb78a1b6f465e4a029f73f8bcd33e28f3b432d	These patients were examined for 8 developmental dental anomalies: fusion, gemination, microdontia, macrodontia, oligodontia, @PHENOTYPICFEATURE$, hyperdontia, and @DISEASE$.	false
+cd5018fa3c762d07d5648fe69d9eb855532c88c9	A female patient with hypocalcification type @DISEASE$ in permanent dentition in association with heavily worn primary teeth, gingival hyperplasia, @PHENOTYPICFEATURE$ and impacted teeth is presented.	false
+3b1cd15797398da8802ace4c1859e0fa523b587a	We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, @DISEASE$, @PHENOTYPICFEATURE$, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara.	false
+a30b6d61a3a1df419ef583dfdc24a474d2a10291	Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, @DISEASE$, hypoplastic type, gingival fibromatosis and other dental abnormalities, including @PHENOTYPICFEATURE$ and unerupted teeth with large dental follicles.	false
+0ba9699f6e6085bab4a9d13901f3f44fdbaca7f2	Hypocalcification type @DISEASE$ in permanent dentition in association with heavily worn primary teeth, gingival hyperplasia, @PHENOTYPICFEATURE$ and impacted teeth.	false
+614a1d20112b8db1c2cda424926552d8ad921a9b	Congenital @PHENOTYPICFEATURE$ of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of @DISEASE$ in a large kindred.	false
+b846ead0f2c34dc6a3cac9d8a4632d0b29ffe209	We present a 34-year-old man with a past medical history of C5 American Spinal Injury Association B tetraplegia secondary to a surfing accident 8 years prior, central @DISEASE$, @PHENOTYPICFEATURE$, autonomic dysreflexia and anxiety who arrived at the emergency room with a 1-month history of worsening acute on chronic pain refractory to opioid escalation.	false
+d1003745af0dcc1d241f567305ac959ac92af35a	Differentiated therapies were administered for ailments such as acute anxiety states, erethism, hyperkinetic syndrome, enuresis, migraine, sleep disturbance, epilepsy, Sydenham?s chorea, @PHENOTYPICFEATURE$, neuralgia, neuritis, dizziness, @DISEASE$, tetany, and syphilis.	false
+e68258fc7c8cc48199e8dda04206452f65ef9b23	Assessment criteria of treatment efficacy were frequency and duration of migraine @PHENOTYPICFEATURE$, @DISEASE$ severity, presence of concomitant syndromes, general state and working capacity of patients and side-effects.	false
+aefd57bda290463bde459488ca5ab878419290af	Chronic prostatitis/chronic pelvic @DISEASE$ increases susceptibility to @PHENOTYPICFEATURE$ in rats and alters brain levels of IL-1? and IL-6.	false
+e5e247cd2d10a90aed90a67c3a1a96531dcb086d	Various clinical symptoms like hydrocephalus (n?=?3), @PHENOTYPICFEATURE$ (n?=?1), meningitis (n?=?1), optical nerve involvment with vision disorder (n?=?1), myelitis with paraplegia (n?=?1), mastoiditis with hearing loss (n?=?1), back @DISEASE$ (n?=?2) were present.	false
+4655a30aff5de35d808a1d839242bdc55314d64c	We also studied the presence of @PHENOTYPICFEATURE$, autonomic dysreflexia and @DISEASE$.	false
+06cd414b24f830781131f8a1ebb889ae2ccccf76	Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of @PHENOTYPICFEATURE$ (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central @DISEASE$, neuropathy and neuropsychiatric alterations has been described.	false
+85155da2c318543bf5ceb011d11a75b1d39a88c0	Fragile X @PHENOTYPICFEATURE$ type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central @DISEASE$, neuropathy and neuropsychiatric alterations has been described.	false
+ed4a036bd0e4776a5b38c037cc64fcb09eed129e	The investigation included 21 patients with significant @PHENOTYPICFEATURE$ or @DISEASE$ after severe injury to the vertebral column and spinal cord without any potential of motor recovery.	false
+bf3bbc21512ef0fb1464f0f494514fd29858371a	We describe 2 patients, one a female, with @DISEASE$ documented to have hypopituitarism and @PHENOTYPICFEATURE$.	false
+ceb8a738f49fa6e8a6068d7ab7733cfd27f9268f	The effects of estrogenic @DISEASE$ on the growth of human breast cancer cells as well as the progression of @PHENOTYPICFEATURE$ in mice have been investigated.	false
+42e2b5ea25b80ab533fe4406ab9ef97fa53bbbd5	@DISEASE$ is a autosomal-dominant inherited clinical condition characterized by nanism, @PHENOTYPICFEATURE$, gonadal dysfunction and phenotypical stigmata.	false
+1f25da7333c4fdc3498fa2fa833f37dfb1ad3b73	@PHENOTYPICFEATURE$ in @DISEASE$: the clinical findings and treatments.	false
+48cdbbce543bfebcb280210938a61988c56e4125	To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in @DISEASE$ (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with @PHENOTYPICFEATURE$ and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM.	false
+02922c266dd7d833e5cd79b480a996bb94e385eb	To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with @DISEASE$ diagnosed with @PHENOTYPICFEATURE$ and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM.	false
+9e9e1d38dd9a37c9dd9d058f204b24c71471b77c	To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (@DISEASE$-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with @PHENOTYPICFEATURE$ and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM.	false
+8c3d2042d8fa9e60532a0424adbfe4c05848d0c2	To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with @PHENOTYPICFEATURE$ and compared survival with the 30 children with @DISEASE$-HCM with 120 contemporaneous children with nonsyndromic HCM.	false
+bd5f10395525abe0c29b8dfa9059c9c19926b793	Unusual combination of @PHENOTYPICFEATURE$ in an infant with @DISEASE$.	false
+644f020930c6865b52f6b46ba8b7489796734e14	@PHENOTYPICFEATURE$ in @DISEASE$ and RIT1 mutation.	false
+70df06ab708062c9ba95d28ee1d7659f21dcfd38	@DISEASE$ is the second most frequent congenital malformation syndrome, after Down syndrome, associated with @PHENOTYPICFEATURE$.	false
+b19d12cebeb1c049a155b3eda8a36dfb3f62e373	The incidence of @PHENOTYPICFEATURE$ is higher in patients with @DISEASE$ and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes.	false
+9e15383b808abd56aa2e4d236aee9b4c05cf1ae2	The incidence of cardiac abnormalities is higher in patients with @DISEASE$ and approximately 80% patients with Noonan syndrome are reported to have @PHENOTYPICFEATURE$ during their lifetimes.	false
+c9f75243ad0ea478de01cf98153a4468610a0d93	The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with @DISEASE$ are reported to have @PHENOTYPICFEATURE$ during their lifetimes.	false
+3142d08958721bc57a7fa9d5f9b0d371078a4efc	The incidence of @PHENOTYPICFEATURE$ is higher in patients with Noonan syndrome and approximately 80% patients with @DISEASE$ are reported to have cardiac abnormalities during their lifetimes.	false
+11e792c050b9862a380231acc06e405698af328a	@DISEASE$ is a rare disorder with characteristic clinical features and @PHENOTYPICFEATURE$.	false
+df07b04f9d95b4253a4c11ac08554f2b1fdc040c	Poor prenatal detection rate of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+32c76ede67c4401049e6fb9f400a0f111c78670e	To report a case of @DISEASE$ in a patient with numerous @PHENOTYPICFEATURE$.	false
+cc655caf407c654af9f36512e0d23a11aaf5cf94	Despite intrathecal baclofen administration in patients with @PHENOTYPICFEATURE$ related to @DISEASE$ is not widely reported, we consider it as feasible treatment.	false
+5f8a7f374d531961a1cace5dd310a3be404c0af3	We report the case of a 28-year-old female subject affected by the attenuated phenotype of @DISEASE$ characterized by moderate slowly evolving @PHENOTYPICFEATURE$ in which the urinary content of heparan sulfate was demonstrated as being substantially low compared to that found in patients with the severe phenotype.	false
+cfc6dacf2d5e3f2a9e0b7db243704b2f91bd8847	Global developmental delay and @PHENOTYPICFEATURE$ are associated with X-linked disorders including Hunter syndrome (@DISEASE$) and Fragile X syndrome (FXS).	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+6cb77786b594ab782da107f67ade32e82cd3ca87	@DISEASE$ (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with @PHENOTYPICFEATURE$, behavioural problems and seizures.	false
+3e0c39085997a2df9acd5e1ddfca96918bc5d582	Thus, neurodevelopmental and @PHENOTYPICFEATURE$ may manifest rarely in @DISEASE$ in the context of relatively unique genetic factors and fetal insult or stress.	false
+42f6269be27e5d3168a96afe271b8841321a29a3	@DISEASE$ is a relatively rare autosomal recessive disorder that has a varied phenotypic presentation; rarely, it is associated with neurodevelopmental and @PHENOTYPICFEATURE$.	false
+c41c9c1ab539772c2724f93af65496d603503d79	Rare @PHENOTYPICFEATURE$ of @DISEASE$ may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptor.	false
+91715d1e44ff299416e2268be4f675b8bcc95bd3	The original patient had ocular @PHENOTYPICFEATURE$; four, strabismus; two, @DISEASE$; three, astigmatism; and one, symptomatic night blindness.	false
+0e32a8a0c1bf70411104f2b777fa15081a3417d6	Posterior staphyloma is typically associated with @DISEASE$ degeneration and has not been recognized as a cause of reduced visual acuity in @PHENOTYPICFEATURE$.	false
+c282443bd8b88f027e8611f056541fc08322523c	The hemorrhage may be related to high @DISEASE$ and also to the hypoplasia of the fovea associated with @PHENOTYPICFEATURE$.	false
+962db277442b9f0a17cf9c7f52dce3f96dc78314	We aimed to identify factors influencing the therapeutic outcome of orthokeratology on controlling juvenile @DISEASE$ @PHENOTYPICFEATURE$, and the risk factors for complications.	false
+72a525021c7f8410a92d8f0cb378c0611c71aff0	Other abnormalities were @PHENOTYPICFEATURE$ macules in one and high-grade @DISEASE$ in the other.	false
+16c9c6cf3b1d13b11c0fbae25882f717d4f39289	We report an infant diagnosed with BPAN who was found to have high @DISEASE$ and astigmatism, strabismus, and bilateral retinal @PHENOTYPICFEATURE$.	false
+55f65ff5b3249ea616b8d6a8e07216405cca31a0	He had a history of developmental delay and mild intellectual disability, asthma, @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features, and Achilles tendon release.	false
+83558ca6a2ebc45bca5cca4eee552dca8aed467d	We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal @PHENOTYPICFEATURE$, mid face hypoplasia, and @DISEASE$.	false
+03e80cfebf512c80effefaf7c86dbd8c77694765	Clinically, she has featured short stature, @PHENOTYPICFEATURE$, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree @DISEASE$, and chronic renal failure.	false
+26360e05c7500032eeea057e838f1ce65b65d7b9	We report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with @PHENOTYPICFEATURE$ (3/3), cleft palate or bifid uvula (3/3), and lack of high @DISEASE$ (3/3).	false
+4b21c1c321f253779d753739d8139ba10cebbc81	rheumatoid arthritis, multiple sclerosis, multiple sclerosis, @PHENOTYPICFEATURE$ or @DISEASE$, or certain types of cancer.	false
+7b0b4d55b880f64cd627150d27cda0e3db3a47fc	-glycosylation in several autoimmune diseases, including multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$, and type 1 diabetes mellitus.	false
+83ff237d84f87b6ab468ef0b7c438b98d5fa802d	Further risk factors are chemotherapy, chronic @DISEASE$, @PHENOTYPICFEATURE$, and multiple sclerosis, in which also steroids are involved.	false
+a81fc79b60b1e4ca306aae9e477f13683fd0f684	Inflammatory bowel disease (@DISEASE$) is thought to be the most common cause of @PHENOTYPICFEATURE$ and diarrhoea in dogs.	false
+8bcf238bc30c80e007422de7445d4431b4e7309f	@DISEASE$ (IBD) is thought to be the most common cause of @PHENOTYPICFEATURE$ and diarrhoea in dogs.	false
+550e726505969843033079caf717a565cdefcf1c	Ocular symptoms are frequent in @DISEASE$, but are non-specific and rarely associated with @PHENOTYPICFEATURE$.	false
+d9cf86986979b29749d284d50b36f33287892762	@PHENOTYPICFEATURE$ C, cirrhosis, autoimmune hepatitis, and @DISEASE$ are more prevalent than ever among older adults.	false
+43516675636b3138beede1202480c8cd61592bfc	@PHENOTYPICFEATURE$ was the most frequently reported disease in families of the @DISEASE$ patients (52.8%) and controls (46.3%).	false
+1add551e894430b8e342768fb9c211ac2f99bc91	EN and @PHENOTYPICFEATURE$ were more common in women, were associated with @DISEASE$ relapse, and recurred in approximately 30% of patients.	false
+efeb5c73b6b01cd2777b52743a16ed33dad0ca6a	Typical symptoms of @DISEASE$ are: abdominal pain, @PHENOTYPICFEATURE$, diarrhea, rectal bleeding, and weight loss.	false
+368a773558c1983c88be0799030b63a05c0bd778	Previously, IRF5 has been found to be associated with @PHENOTYPICFEATURE$, rheumatoid arthritis and @DISEASE$.	false
+5f470403cad30d31f786bc019673f7aae8bde0a0	We report, to our knowledge, the first case of a congenital, widespread, aggressive high-grade sarcoma, presented as multiple @PHENOTYPICFEATURE$ and respiratory distress in a neonate that had a t(9;22)(q22;q11-12) cytogenetic abnormality suggestive of a more indolent @DISEASE$ (EMC).	false
+68e4b60f56f5267bdb2f681d68f9b2f5817910bd	The differential diagnosis of myxoid ACC includes @DISEASE$, @PHENOTYPICFEATURE$, myxoid adenocarcinoma, myxoma, lipomatous tumors, nerve sheath tumors, smooth muscle tumors, gastrointestinal stromal tumor and other sarcomas.	false
+2b09f5d63f0cf15e19416085c3f43b3ae804b2e0	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) @PHENOTYPICFEATURE$, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) @DISEASE$, 1/3 (33%) alveolar soft part sarcoma, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) Ewing sarcoma showed PD-L1 expression.	false
+76ced714a81a366aa15fa71fad4a34a9886552ec	This group of myxoid/mucoid neoplasms includes @PHENOTYPICFEATURE$, myxopapillary ependymoma, metastatic mucinous adenocarcinoma, and @DISEASE$.	false
+f1f3df7a15913823f13f475419e1491b4193c9f3	When well developed, the neoplastic cells had scant eosinophilic cytoplasm and were arranged into cords closely mimicking @DISEASE$, @PHENOTYPICFEATURE$, mixed tumor/myoepithelioma of soft tissue, and yolk sac tumor.	false
+5f54707a314992d366ac739a8571b32827b5a47d	A 35-year-old man with a history of long-term, prescribed oral steroid use for @DISEASE$ presented with profound bilateral @PHENOTYPICFEATURE$.	false
+c97dfef7b6eaff6f7699eedda8b20f56320f8382	The @PHENOTYPICFEATURE$ was removed through craniotomy and was histologically diagnosed as @DISEASE$.	false
+4d6384550d2ee290463bba8b9ead332b702cd52e	@DISEASE$ is defined as a malignant pituitary @PHENOTYPICFEATURE$ associated with blood- or lymph-borne metastases.	false
+b5c22bf008b8757dcf8e62965e817f40feddc59c	@DISEASE$ is a rare @PHENOTYPICFEATURE$ originating from adenohypophyseal cells.	false
+d207d5947069aeefa50d8bf0ad5a3454ffac2a70	The second animal with a @DISEASE$ was euthanized because of @PHENOTYPICFEATURE$ recurrence 1 1/2 years after therapy.	false
+8b3693d1a3b17d59cc8fbea3bcc25d4cad353cff	@DISEASE$, an uncommon @PHENOTYPICFEATURE$ in adults, generally presents with craniospinal and systemic metastases.	false
+4f85c590f0dd0febfd2a32dd3b5632a93c306159	Both @PHENOTYPICFEATURE$ fulfil criteria for diagnosis of @DISEASE$.	false
+1aa24470239ade99c5d2b2f6713b53ca5f08147a	Six months after discontinuation of TMZ, the @PHENOTYPICFEATURE$ progressed into @DISEASE$ with tumor regrowth and intraventricular dissemination.	false
+c429705b11a44801c5adfeed7c7d8ef81ace97fb	Six months after discontinuation of TMZ, the tumor progressed into @DISEASE$ with @PHENOTYPICFEATURE$ regrowth and intraventricular dissemination.	false
+fc1c417e8bd7019023079cf8973fa38319af7059	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterized by poor responsiveness to therapy, leading to early death.	false
+c696629dcf03e1266da7dd8f4eaa0e1a09de9979	The @PHENOTYPICFEATURE$, mimicking @DISEASE$, was removed by transsphenoidal craniotomy.	false
+ff766fbd4a9b24de889a74e7e6cb2c0a0b8687ca	Tumor-to-@PHENOTYPICFEATURE$ metastasis from @DISEASE$ to radiation-induced meningioma.	false
+0005eafbb167c4281ee70f214e6f8e3c3903afa1	Marked @PHENOTYPICFEATURE$ was documented in an 18-year-old boy with untreated congenital anterior @DISEASE$.	false
+4b967d39f16bf977a61b77c41f977ae2233a9594	We present a 10-year-old Chinese @DISEASE$ boy with biallelic LDLR mutations including an extremely rare de novo @PHENOTYPICFEATURE$.	false
+63dc0626017f1dfebb3fb070b87105b848863d43	@DISEASE$, Crohn disease, ulcerative colitis, @PHENOTYPICFEATURE$ and psoriasis were also associated with cancers at multiple sites.	false
+80a3fd10f011f8962f22eff601b408fc25c4adfd	Some patients without @DISEASE$, but with B12 deficiency and either mild @PHENOTYPICFEATURE$ or mild to moderate dementia, might show some degree of cognitive improvement with supplemental B12 treatment.	false
+07128e08a6d8d81b4c13495dc74c3f3c31f01efa	@DISEASE$ (MPS) is a very rare autosomal recessive disorder characterized by flexion of joint and digit @PHENOTYPICFEATURE$, skin webbing, cleft palate, deformity of the spine, and cervical spine fusion.	false
+bfe3686d6a56a892a426d368e0fe302b66a62224	Transient neonatal @PHENOTYPICFEATURE$ and massive polyuria in @DISEASE$.	false
+3196e80188ed2156c527d14ce19fb906eb790fb7	We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (@DISEASE$), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and @PHENOTYPICFEATURE$ epilepsy.	false
+52c254087c7bbac95522d5cb85e2befc97b0b88d	Anomalies noted were fused lower extremities, imperforate anus, @DISEASE$, bilateral fused pelvic kidneys with renal dysplasia, pelvic and sacral dysplasia, and @PHENOTYPICFEATURE$.	false
+cd4678b20d472ad26ae8ae307ba25bb522be9834	We report a rare case of reversible melasma-like @PHENOTYPICFEATURE$ associated with @DISEASE$ and discuss the possible mechanisms of this association.	false
+6cc9985bba2143fc170056e775153d7ec6532802	An 11-year-old black male presenting with severe subacute sensory ataxia, unusual @PHENOTYPICFEATURE$, megaloblastic anemia, low serum B12 levels, and an abnormal part I Schilling test was diagnosed with @DISEASE$ in the context of a polyglandular syndrome.	false
+2583a9f2347091364d85cd0c618ae8408735038f	It can appear further sequelae, especially the @DISEASE$, polyneuropathy, epilepsy in alcoholics, @PHENOTYPICFEATURE$, and cerebellar atrophy.	false
+46d05ba1bdc124148ba1bbb6eab7cbd46f40a14d	Thiamine deficiency classically manifests as the triad of @DISEASE$: acute confusional state, @PHENOTYPICFEATURE$, and ocular motor dysfunction.	false
+7b851dd906870500979af45b90b2712b177e13fa	@DISEASE$ (WE) is a neurological emergency that develops in the setting of thiamine deficiency, and is characterised by symptoms of confusion, ophthalmoplegia and @PHENOTYPICFEATURE$.	false
+3f06bf42ee03df008066e089bea2e7ca3f362552	Not only @PHENOTYPICFEATURE$ and demyelination, but also lesions thought to be specific for the @DISEASE$ were equally prominent in both groups.	false
+97e3f3a8324ae8f7c9563692d612e6887a114213	On the contrary, @DISEASE$, with its neurological symptoms (ocular coordination imbalance and @PHENOTYPICFEATURE$), is a dramatic medical condition, potentially lethal which can lead towards Korsakoff dementia.	false
+52066a7bdf04fd9d02d55e513c025ab985e64e9e	We recommend inquiring about any obesity surgery in one's history and including @DISEASE$ in possible differential diagnoses in those patients who have a recent onset of strabismus or nystagmus, altered mental status, and/or @PHENOTYPICFEATURE$.	false
+063a5ff16d6ed56d9d415175171e9280319f2660	@PHENOTYPICFEATURE$ and delirium may lead to a chronic memory disorder (i.e., @DISEASE$).	false
+7941414e43ba5e3e84582ccdf567969d76abd8aa	@PHENOTYPICFEATURE$ and hypoperfusion improve during treatment of @DISEASE$.	false
+ac8bf7be50f0751494419e8317c3662d51b5d17d	Alcoholic @DISEASE$: some unresolved issues concerning etiology, neuropathology, and @PHENOTYPICFEATURE$.	false
+80ab93f893f0ca9d41d740108ad416df9a4ff06e	On examination there was frontal type dementia with @DISEASE$, a decrease in propioception and @PHENOTYPICFEATURE$.	false
+ac7fddf2c820ca3e5053e28e6f63b5fc95a52b84	The @DISEASE$ (progressive encephalopathy, hypsarrhythmia and optic atrophy) is a rare, autosomal recessive, @PHENOTYPICFEATURE$ of infancy.	false
+dee7d9f8efdaf813f55635bcd6ec90c5c3368c30	@DISEASE$ is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, @PHENOTYPICFEATURE$, oedema, and optic atrophy.	false
+2ce7a839d9e0fd89b0f251824bad4812187c4079	Medullary sponge kidney (@DISEASE$) disease, a rare @PHENOTYPICFEATURE$ featuring recurrent renal stones and nephrocalcinosis, continues to be diagnosed using expensive and time-consuming clinical/instrumental tests (mainly urography).	false
+86c53b349457db151ec57999b8d325cc3d402751	@DISEASE$ with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor @PHENOTYPICFEATURE$: report of a four-generation Thai family.	false
+21519cf5bd3857bcba32d1caa0ad58046ce8b706	@DISEASE$ (s-JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by spiking fever, @PHENOTYPICFEATURE$ skin rash, pericarditis and hepatosplenomegaly.	false
+78c3dcefaada0df44e8c587deca7e7ce324c5021	The described child manifested the typical dysmorphic features of @DISEASE$ and suffered from serious respiratory distress and @PHENOTYPICFEATURE$ from birth.	false
+8d9af893580cb58a12f2cfc106afb0c1441d4d0f	A 15 years old boy was deferred to our department with growth hormone deficiency, @PHENOTYPICFEATURE$ with middle ear bones involvement, and a facial dysmorphy called @DISEASE$.	false
+3149c7d40796f150ec40009658aed81bc6914d4c	Live animal imaging revealed that @DISEASE$ performed ultra high @PHENOTYPICFEATURE$ uptake in both mice and marmoset models.	false
+d5090f083a3b51a556321c9b4ef7c1146d79be54	Strikingly, intravenous administration of @DISEASE$ and radiation on the tumor achieved efficient @PHENOTYPICFEATURE$ ablation, without inducing myocardial injury.	false
+edfe1ed7901abe059fdf493af116fbbf6709c75c	Strikingly, intravenous administration of @DISEASE$ and radiation on the @PHENOTYPICFEATURE$ achieved efficient tumor ablation, without inducing myocardial injury.	false
+c089c71e0ccc00592e84a307e693d756c44f1e81	Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with @DISEASE$, failure to thrive and @PHENOTYPICFEATURE$.	false
+15e1a45e48e443163c926997c36f6fa77b7a67d3	Patients with @DISEASE$ are characterized by recurrent @PHENOTYPICFEATURE$, port-wine urine, and motor paresis.	false
+360f0bd1157edc8b0fa25e583956684f4020aa8f	Indications for steroid therapy in @DISEASE$ patients are symptoms such as obstructive jaundice, @PHENOTYPICFEATURE$, back pain, and the presence of symptomatic extrapancreatic lesions.	false
+1559d71f9677d3069e8a5ea53219713517d22de9	They were separated into 3 different groups: (a) pulmonary diffuse alveolar damage (pDAD) (n = 8), consisting only of @PHENOTYPICFEATURE$ cases; (b) extrapulmonary diffuse alveolar damage (expDAI) (n = 9), consisting of sepsis and septic shock cases; and (c) idiopathic diffuse alveolar damage (iDAD) (n = 9), consisting of idiopathic cases (@DISEASE$).	false
+57c422ed53b2c3cca7942128acb971136177cd0f	A Chinese female patient with very typical @DISEASE$ symptoms of severe @PHENOTYPICFEATURE$, seizures, hypertension, and tachycardia, accompanied with hyponatremia, anemia, and hyperbilirubinemia.	false
+c21acd42f2fc4f111cfd63091742dd51e4440703	Patient 1 was a 68-year-old male with @DISEASE$, patient 2 a 67-year-old male with AE of idiopathic pulmonary fibrosis, and patient 3 a 61-year-old female with AE of collagen vascular disease-associated interstitial @PHENOTYPICFEATURE$.	false
+a409046f2144f2ca233099cec2e34791bc29901a	Clinically, @DISEASE$ patients commonly present with jaundice, weight loss and @PHENOTYPICFEATURE$.	false
+694deee580fad3b685c0476a35a361e70b69776e	MCP-1 concentrations in the BALF and sera were evaluated in 86 patients with ILDs including IPF, @DISEASE$, interstitial @PHENOTYPICFEATURE$ with collagen vascular disease (IP-CVD), chronic interstitial pneumonia (CIP), bronchiolitis obliterans-organizing pneumonia, sarcoidosis, hypersensitivity pneumonitis, and in 10 normal healthy volunteers who were controls (NC).	false
+c3fa17c360cdfcbce1db190d8db1184ca6afcbad	The most common clinical manifestations of @DISEASE$ are obstructive jaundice and upper @PHENOTYPICFEATURE$.	false
+341e8178051920a774385e43d0cdefa308bb831b	@DISEASE$, first described in 1984, is a progressive infantile familial @PHENOTYPICFEATURE$ featuring cerebral calcifications, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis.	false
+bc51f4e00a31a0cc0609a403995eab429da6d8f1	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: @DISEASE$; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+a6a6540237b2168c48417149e5ac3132a1b3f5ff	[@DISEASE$: an oft unrecognised familial early-onset @PHENOTYPICFEATURE$].	false
+a8fce8702282022b815373953195af8ee6128097	Two siblings with familial @PHENOTYPICFEATURE$, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of @DISEASE$, are reported.	false
+2d4ad7ef4a273200a439977b51d8faeaafd3db46	BMAs were performed equally for gammaglobulin abnormalities (monoclonal peak?=?45?% of indications, @DISEASE$?=?6?%) and for other reasons (haemogram abnormality?=?24?%, skeletal @PHENOTYPICFEATURE$?=?6?%, unexplained inflammatory syndrome?=?5?%, lymph node disease?=?4?% and others).	false
+4496e933e8a7bf7a34ea8608de9bd7448c3ef0b9	Chronic @PHENOTYPICFEATURE$, lymphopenia, and @DISEASE$ in a 9-year-old female.	false
+154b6210f7b256f649fdcaf2dae0422b653c47b5	[Familial disease characterized by the association of a nonprogressive @PHENOTYPICFEATURE$, palmar telangiectasis and @DISEASE$].	false
+82d351a6e21ee563c04db1bb6f6adeca9b4d2c4e	Patients with PIL develop hypoalbuminemia, hypocalcemia, lymphopenia and @DISEASE$, and present with bilateral lower limb edema, fatigue, @PHENOTYPICFEATURE$ and diarrhea.	false
+7af0454fc11418359a4689d05f4a6ff2cc053224	Symptoms begin abruptly with anorexia and @PHENOTYPICFEATURE$, and progress within hours to massive secretory diarrhea and shock with profound neutropenia and hypoproteinemia, including hypoalbuminemia and @DISEASE$.	false
+7ec2527fdb99666f8e4259abacaf3d6d5912bf30	We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also @PHENOTYPICFEATURE$, huge forehead, liver abnormalities, autoimmune thyroiditis and @DISEASE$, evocative of SD/THE.	false
+627c7f09e23a5241f6b67ee85e48b6765c64f4ba	@DISEASE$, neutropenia, fever, and @PHENOTYPICFEATURE$.	false
+46dcc30701a53de770ab90d76db91d799f4b66f6	Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or @DISEASE$ is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and @PHENOTYPICFEATURE$.	false
+5beeb623e5b4899a32d373a566bddb18df76bb00	@DISEASE$ (ASS) is an X-linked disorder characterized by facial, skeletal and @PHENOTYPICFEATURE$, including penoscrotal transposition in males.	false
+bc23e9e1ff41430bac00f0d98aeb34604a3a96e9	@DISEASE$ (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and @PHENOTYPICFEATURE$.	false
+a51c9c79fe600a0ec9c63697d5c2e5deb0f7851e	@DISEASE$ is a rare X-linked recessive disorder with characteristic facial, skeletal, and @PHENOTYPICFEATURE$.	false
+22b190c69fb37f19c78e0a052b512d17bc07cedc	@DISEASE$ of unusual facies, joint hypermobility, @PHENOTYPICFEATURE$ and short stature.	false
+6b359d0f44fa65b26d252e4f543fe9e03cc4279c	@DISEASE$ (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+d0b361d6511621be44ff32639198d9ae2e495b90	Recent cancer studies have suggested that the @DISEASE$ 1 (FGD1) gene may play a role in the development of @PHENOTYPICFEATURE$ cells.	false
+8f7cbc349f2dbf6b226be52c1e703cc2fe415384	@DISEASE$ 5 ( FGD5) amplification drives @PHENOTYPICFEATURE$ cell proliferation, and is present in 9.5% of breast cancers.	false
+9e73ca9c354f7ec92c792b8faa177098fe2dfaf3	@DISEASE$ (ASS) is a rare disorder with characteristic facial, skeletal, and @PHENOTYPICFEATURE$.	false
+0e808071d215aa816b077510b9201b8f89a23e39	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, @PHENOTYPICFEATURE$, and joint contractures.	false
+0c689d72d1aa3e91def858c9b1ffc8ae3fb43a92	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, @PHENOTYPICFEATURE$, and joint contractures.	false
+b3082e7d3a81c84448e7c65f9889bd9bd697d487	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, @PHENOTYPICFEATURE$, joint contractures, and a good-natured facial appearance.	false
+c690ee343664108e834d930124e92568c9b7beef	@DISEASE$ is characterized by short stature with short limbs and @PHENOTYPICFEATURE$, a "happy" facial appearance, and joint contractures.	false
+c610d74ae2af4e33b30f56c059b8b8e858755642	@DISEASE$ is an autosomal recessive disorder characterized by short stature, @PHENOTYPICFEATURE$, thick skin and cardiac valvular anomalies often responsible for an early death.	false
+1fcf46d89958e53401a77f730fdd4963f42268b3	@DISEASE$ (GD) is an autosomal recessive disorder characterized by short stature, @PHENOTYPICFEATURE$, stiff joints, thick skin, and cardiac valvular abnormalities that are often responsible for early death.	false
+feb911b84588db57a86be6b62f433e353edf2b40	Pigmented @PHENOTYPICFEATURE$, acanthosis nigricans, and @DISEASE$ are also encountered.	false
+7ebbef47fcd96f35c945c802425f203f174f9a6d	[Sternoclavicular @PHENOTYPICFEATURE$ and @DISEASE$].	false
+3237ec6d0e8f300c2431881d2052a53481c17464	We investigate the potential association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c81432fe2cce26398cccd288ae8dd4df88cd9fba	Sacroiliitis, @PHENOTYPICFEATURE$ sternoclavicularis, and @DISEASE$ palmoplantaris in monozygotic twins.	false
+0fdf7911996d5b8eebb2e91e345dd4f1c942acbc	Spinal @PHENOTYPICFEATURE$--a rare skeletal manifestation of @DISEASE$ vulgaris.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+ca63f9aca94da4855d5f8eb9c4ddfa4e7eae4f2d	A life-threatening respiratory disease, characterized by fever, cough, dyspnoea, cyanosis and wide-spread bilateral @PHENOTYPICFEATURE$, developed in a 40-year-old patient receiving intermittent methotrexate therapy for @DISEASE$.	false
+41be90ee254e1b38074fbee919269a9f83c51a77	@PHENOTYPICFEATURE$ may therefore be another metabolic complication of erythrodermic @DISEASE$.	false
+827d98a169f33c3466a5f0d7d34b92957bc6f752	There were 53,290, 6,885, 6,348, and 39,908 incident cases of mild @DISEASE$, severe psoriasis, psoriatic arthritis, and @PHENOTYPICFEATURE$, respectively.	false
+09edbf23150ac04c1fdb0daa8211da5419cdfbd7	There were 53,290, 6,885, 6,348, and 39,908 incident cases of mild psoriasis, severe @DISEASE$, psoriatic arthritis, and @PHENOTYPICFEATURE$, respectively.	false
+70295c3660666f52af5477d4181459fa4eae110b	Demographic information, @DISEASE$ severity and duration, @PHENOTYPICFEATURE$ status, smoking and alcohol consumption, itch timing, and sleep characteristics were included.	false
+e882c9988821527a915f37814cb1dd2d1ea92fa6	@DISEASE$ (HGPS) is a rare, progressive segmental premature aging disease that includes scleroderma-like skin, progressive @PHENOTYPICFEATURE$, and atherosclerosis.	false
+9fc809959690b2dcb8e391762c2b2a2b55764852	Hutchinson-Gilford progeria syndrome (@DISEASE$) is a rare, progressive segmental premature aging disease that includes scleroderma-like skin, progressive @PHENOTYPICFEATURE$, and atherosclerosis.	false
+940607b2e97600d55f139943d298e3f9918b8664	Pretreatment @DISEASE$ was also significantly associated with advanced @PHENOTYPICFEATURE$-node-metastasis stage (odds ratio [OR] =3.09, 95% CI: 2.11-4.53,	false
+10d4e8ae21dd040fea7c601b8aeae07b6e108982	Taken together, these findings suggest that the phenotype of @DISEASE$ represents a unique @PHENOTYPICFEATURE$.	false
+5248e31cc5ac6f1764dae6692afdf90b409e7c2b	The premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS) provides a unique opportunity for studying the interplay between DNA damage and aging-associated tumor mechanisms, given that @DISEASE$ patients do not develop @PHENOTYPICFEATURE$ despite elevated levels of DNA damage.	false
+6bd5b9de9f6ea8e9f2c6e1b86eb0a3b210e61850	The premature aging disorder Hutchinson-Gilford progeria syndrome (@DISEASE$) provides a unique opportunity for studying the interplay between DNA damage and aging-associated tumor mechanisms, given that HGPS patients do not develop @PHENOTYPICFEATURE$ despite elevated levels of DNA damage.	false
+83ea39048fc0aaa0c096ca597504ec522efe3903	The premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS) provides a unique opportunity for studying the interplay between DNA damage and aging-associated @PHENOTYPICFEATURE$ mechanisms, given that @DISEASE$ patients do not develop tumors despite elevated levels of DNA damage.	false
+b6ac2057ef75a4b9edf67c9822ae00baea7f775e	The premature aging disorder @DISEASE$ (HGPS) provides a unique opportunity for studying the interplay between DNA damage and aging-associated @PHENOTYPICFEATURE$ mechanisms, given that HGPS patients do not develop tumors despite elevated levels of DNA damage.	false
+40d812d7d65239563a1859f89b8afd098d3d81b1	The premature aging disorder Hutchinson-Gilford progeria syndrome (@DISEASE$) provides a unique opportunity for studying the interplay between DNA damage and aging-associated @PHENOTYPICFEATURE$ mechanisms, given that HGPS patients do not develop tumors despite elevated levels of DNA damage.	false
+cd12a356ec580822d82fbb78a763530e3945495d	The premature aging disorder @DISEASE$ (HGPS) provides a unique opportunity for studying the interplay between DNA damage and aging-associated tumor mechanisms, given that HGPS patients do not develop @PHENOTYPICFEATURE$ despite elevated levels of DNA damage.	false
+0e4f1dc5358c36c275fd5c49974e9d3d6ad636d0	Abnormal expression of LMNA is ubiquitous in human @PHENOTYPICFEATURE$, and its mutation leads to various forms of laminopathies, including Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), and Hutchinson-Gliford progeria syndrome (@DISEASE$).	false
+0fd404c92bd05f962ed97a2404b309d324af176c	The low toxicity and oral availability of FTIs led to their introduction into clinical trials for the treatment of breast cancer, hematopoietic malignancy, advanced solid @PHENOTYPICFEATURE$ and pancreatic cancer treatment, and @DISEASE$.	false
+d35f23a01f10c5331feae3bac3f78c5795895af0	Adult-to-adult LRLT was performed using whole left lobar grafts in 13 patients (5 with primary biliary cirrhosis, 6 with familial amyloid polyneuropathy, 1 with @PHENOTYPICFEATURE$, and 1 with @DISEASE$).	false
+ebdb8d2f1262e9fa7aaa087b5e7b1464df904056	Their disorders were @DISEASE$, @PHENOTYPICFEATURE$, liver cirrhosis, and liver cell cancer.	false
+5542c3e799154841b81371a94ed5522de9fe7cd3	Radiographs demonstrated features of @DISEASE$. A differential diagnosis of @PHENOTYPICFEATURE$ is given.	false
+1c27232de5b2d7f78f3603574456cb95d1ebf15f	We report on concordantly affected female identical twins with @PHENOTYPICFEATURE$, dysarthria, progressive spastic paraplegia, and @DISEASE$. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses.	false
+a4a46178e4e57f9635a2586c2acb3cbe645f8404	We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and @DISEASE$. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, @PHENOTYPICFEATURE$ type E, and cone-shaped epiphyses.	false
+388024f166e31040aa5d758f48fe1ebface9c731	Our findings, in addition to identifying the genetic cause of @PHENOTYPICFEATURE$ in two unrelated kindreds, emphasize the role of pathogenic TRPS1 variants in the development of @DISEASE$ and highlight the GATA DNA-binding region of TRPS1 protein with respect to phenotype-genotype correlation.	false
+db167ed238cb495fc93fb709506ef45f718b8a6a	Identical twins with @PHENOTYPICFEATURE$, dysarthria, progressive spastic paraplegia, and @DISEASE$: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?	false
+a3cb04753bd05fe95adfd6b196befb81a1fd30f4	As an Albright hereditary osteodystrophy (AHO)-like syndrome including @DISEASE$ and @PHENOTYPICFEATURE$ may be caused by (micro) deletions at chromosome 2q37, this region together with the AHO locus at chromosome 20q13 were considered as candidate loci for brachydactyly type E. In this paper we described a family with isolated autosomal dominant type E brachydactyly in whom molecular analysis excludes linkage to these regions, providing support for further genetic heterogeneity of this trait.	false
+2f24ed6c2b9a973de67a8773d3f9499d7a14e646	As an Albright hereditary osteodystrophy (AHO)-like syndrome including @DISEASE$ and mental retardation may be caused by (micro) deletions at chromosome 2q37, this region together with the AHO locus at chromosome 20q13 were considered as candidate loci for @PHENOTYPICFEATURE$ type E. In this paper we described a family with isolated autosomal dominant type E brachydactyly in whom molecular analysis excludes linkage to these regions, providing support for further genetic heterogeneity of this trait.	false
+2abdeb05d48e8e91e761f05a876dae753d15f78f	Kaufman oculo-cerebro-@DISEASE$ (KOS) is caused by recessive UBE3B mutations and presents with @PHENOTYPICFEATURE$, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability.	false
+24ab99168ec3b2d3d32a294a191f7b73b04e92f0	Acro-cardio-@DISEASE$ (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include @PHENOTYPICFEATURE$, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation.	false
+115cf92313fd3a5ee19d32bed2c436384547dbb6	We report on a baby presenting with @PHENOTYPICFEATURE$, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-@DISEASE$ (ACFS).	false
+065f29809894cb23a547ac40c2a6b0bdda24a2d6	We performed exome sequencing in two familial cases with clinical features overlapping with MFDGA and EA, but which were previously assumed to represent distinct entities, a syndrome with esophageal atresia, hypoplasia of zygomatic complex, @PHENOTYPICFEATURE$, cup-shaped ears, congenital heart defect, and intellectual disability in a mother and her two children [AJMG 143A(11):1135-1142, 2007] and a supposedly autosomal recessive oto-@DISEASE$ with midline malformations in two sisters [AJMG 132(4):398-401, 2005].	false
+24eacbee0a92c991c091095a63e707832a8a015a	A case of cardio-@DISEASE$ with dysmorphic and asymmetric crying face, congenital heart defects, @PHENOTYPICFEATURE$ is described.	false
+ae0f2871484c9b2edae528090b6ed638d1d0c267	Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with @PHENOTYPICFEATURE$ (branchio-oculo-@DISEASE$).	false
+e5821d4daaa3eb1a0718fecdba3f94ee703ef6a7	Cleft lip/palate, abnormal ears, @PHENOTYPICFEATURE$, congenital heart defect, and growth retardation: definition of the acro-cardio-@DISEASE$.	false
+0b4552beafa0a1a823d56eb7f7939a4e241be741	The authors review the literature on the oculo-mandibulo-@DISEASE$ and present the case of a six-year-old boy with congenital cataracts, microphthalmos, nystagmus, @PHENOTYPICFEATURE$, dysmorphic features with a tiny pinched nose, mandibular hypoplasia, microstomia, double chin, chronic snoring, recurrent respiratory infections and dental problems.	false
+ef5470aba8f16c676ab8897eb1020ea34266a8b3	An overlap between Cantu syndrome, acromegaloid @DISEASE$, and @PHENOTYPICFEATURE$ acromegaloid facial features disorder is apparent at the phenotypic and molecular levels.	false
+0bf7e4375dd5f922b301dcc00f3cbbdb585661a5	Captopril caused no increase in PRA in the remaining 1 who had unilateral @PHENOTYPICFEATURE$ with contralateral @DISEASE$.	false
+90117be619e1e97d120e6cad5b15354d437e1ebc	We have described unilateral @DISEASE$, coloboma of iris, deafness, midline anomalies, @PHENOTYPICFEATURE$ and Moebius anomalad as features that were associated with Kallmann syndrome in our group of subjects.	false
+28fbde9a80e6ad5db1b6d6da81f29a0749c2067e	Investigations found pigmentary retinitis, metabolic syndrome, unilateral @DISEASE$, and @PHENOTYPICFEATURE$, and ruled out mitochondrial cytopathy and leucodystrophy.	false
+31065f6ed90af007b2d248a9dbec01e8eb6f2051	M?llerian duct aplasia-@DISEASE$-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and @PHENOTYPICFEATURE$.	false
+2f24e7214f8b4531c83eecba7310a398011d25b1	Such conditions, include cystic fibrosis, HIV/AIDS, @PHENOTYPICFEATURE$, Alstrom syndrome, @DISEASE$, Prader-Willi syndrome, Tricho-dento-osseous syndrome, tuberous sclerosis, familial steroid dehydrogenase deficiency and epidermolysis bullosa.	false
+0e3e4fec2a59ca2197809c7494c92ff10b30711a	Ocular signs of @DISEASE$ previously described are blue sclera, band keratopathy, conjunctival calcification, @PHENOTYPICFEATURE$, optic atrophy and the complications of craniostenosis.	false
+56a461b8cea56d3e2d9e77a95bb0972344a986f2	A mutation in KCNJ13 resulting in an arginine-to-tryptophan change at residue 162 (R162W) of Kir7.1 was associated with @DISEASE$, an inherited autosomal-dominant disease characterized by vitreous degeneration and mild @PHENOTYPICFEATURE$.	false
+7f0dc66223e7ecc49398fb6b54c62882461e913d	To identify the chromosomal location of the gene causing @DISEASE$ (SVD), an autosomal dominant @PHENOTYPICFEATURE$ characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment.	false
+bf9fe5dee85cef6250a5ec1cb83b1a252832c41b	Kohlsch?tter-T?nz Syndrome is a rare disorder clinically characterized by @DISEASE$, epilepsy and @PHENOTYPICFEATURE$.	false
+7b1996b1b3b2a91175a64be72f61009c0440433a	@DISEASE$ (AI) represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or @PHENOTYPICFEATURE$ teeth.	false
+10d1374887066888188350462c24dc57e3bf15bd	@DISEASE$ (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech @PHENOTYPICFEATURE$ failure, brachycephaly, flat midface, short broad hands, and behavioral problems.	false
+510d3629154110e361fe7ff2e519d068290691bb	The phenotype of @DISEASE$ is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and @PHENOTYPICFEATURE$, and a 24-hour sleep disturbance.	false
+ba3bddd75e3a44fe52c402da4cff4a2fb22e0613	In the first patient, a 4-month-old boy with developmental delay, hypotonia, @PHENOTYPICFEATURE$, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and @DISEASE$ (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+5540dab404091ace79740a0368f141cea49e0540	Here, we report two unrelated girls with prenatal onset short stature, short neck, cervical vertebral anomalies, @DISEASE$, and mild @PHENOTYPICFEATURE$.	false
+2a17f8bc17e381f6ba416769d5cb5245ce978abd	A mummified fetus, believed to be the daughter of king Tutankhamun, has scoliosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+2fb277e7e5a28b7f37428d2a4747f6d6a4f697f2	Acromicric dysplasia (AD) and @DISEASE$ (GD2) belong to the category of acromelic dysplasia syndromes, consisting of @PHENOTYPICFEATURE$, short hands and feet and skin thickening.	false
+0b822143e9b6b045676596519244f1a562bc59cb	This is the only manifestation in most patients with @DISEASE$, and, in the case of classical mevalonic aciduria, is part of a severe multisystemic disease, including malformations, severe failure to thrive and @PHENOTYPICFEATURE$.	false
+6b1e5e0759cd68e44eace9c013388aee24b05323	The meta-analysis showed significant results in favour of the group on HAART, with lower prevalence for angular cheilitis, @PHENOTYPICFEATURE$ candidiasis, oral herpes, pseudomembranous candidiasis, @DISEASE$, and oral hairy leukoplakia.	false
+1b092b1c0333330151e2284e5c0df1481dacff62	Striking differences in @DISEASE$ (KS) risk for AIDS patients who acquire @PHENOTYPICFEATURE$ via homosexual activity and those whose HIV infections derive from blood product exposure suggest the presence of a sexually transmitted agent other than HIV in the development of KS.	false
+0b565f497c0a7fefdca05e93044305da71d20596	The prevalence of Epstein-Barr virus (EBV) and the recently discovered Kaposi's sarcoma associated herpes virus, human herpesvirus 8 (KSHV or HHV8), was determined within oral lesions common to HIV infection including OHL, pseudoOHL (PHL), oral lymphoma, oral @PHENOTYPICFEATURE$, and an oral @DISEASE$.	false
+abab0374bafdb938652c9d3cc9599354f3c8afe0	The prevalence of Epstein-Barr virus (EBV) and the recently discovered @DISEASE$ associated herpes virus, human herpesvirus 8 (KSHV or HHV8), was determined within oral lesions common to HIV infection including OHL, pseudoOHL (PHL), oral lymphoma, oral @PHENOTYPICFEATURE$, and an oral Kaposi's sarcoma.	false
+a7fcbb9039bc574986020c9504888996c731eaa4	While @DISEASE$ is constantly decreasing non Hodgkin lymphomas, @PHENOTYPICFEATURE$ encephalopathy and wasting syndrome are increasing.	false
+755b7e7b25d1f606e86769fbae42e79abac9a272	@PHENOTYPICFEATURE$-like @DISEASE$ of the oral mucosa.	false
+8d4ba762ca076af543088f726d6fe188cd8aee39	Other lesions such as @DISEASE$, Multifocal Epithelial Hyperplasia, Oral Hairy Leukoplakia, Linear Gingival @PHENOTYPICFEATURE$, and oral ulceration were also present.	false
+064f7d67c8037eb1f30352bfbdda9099060be2ee	A case of @DISEASE$, which first appeared as an @PHENOTYPICFEATURE$ oral lesion, in a patient with AIDS is presented.	false
+89066cebf111009d492b2de08750a72d7606adb1	Hairy leukoplakia, pseudomembranous and @PHENOTYPICFEATURE$ candidiasis, angular cheilitis, @DISEASE$, and oral ulcers were more common in HIV-infected subjects than in HIV-negative subjects.	false
+8972057107e94a6e3d9bd6d19154f41a442419d3	Disseminated histoplasmosis was either the only initial manifestation of AIDS (seven patients) or was accompanied simultaneously by cytomegalovirus infection (four patients), or @DISEASE$, Toxoplasma @PHENOTYPICFEATURE$, or cryptosporidiosis (one patient each).	false
+ef6e84eedf4a7f75d0c2f9eebd52a1a10b6525d4	Facial nerve palsy, headache, @PHENOTYPICFEATURE$ and @DISEASE$ in an elderly man.	false
+530adb0c4a01f7df649b327813763fa2c5e5b3da	@PHENOTYPICFEATURE$ of the jaw after oral bisphosphonate for @DISEASE$.	false
+96166b7adf67201b461fc7b2e7deae0b4fcfb8a1	The clinical presentation of LPI includes gastrointestinal symptoms, failure to thrive, episodes of @PHENOTYPICFEATURE$, hepatosplenomegaly and @DISEASE$.	false
+5b15d6f575f36d8ccf1f7725a6f31aa2dd0a06b2	Bisphosphonate (BP)-associated @PHENOTYPICFEATURE$ of the jaw (ONJ) was first reported in oncology patients in 2003 and subsequently in @DISEASE$ patients in 2004.	false
+2e2ec3cd54274e8381e62b7984c0d373e7652b64	Multiple @PHENOTYPICFEATURE$ of the jaw, oral bisphosphonate therapy and refractory rheumatoid arthritis (Pathological fracture associated with ONJ and BP use for @DISEASE$).	false
+a52460d40a775feca73532739a6690e2c86e2acb	Migrating bone marrow oedema syndrome, transient @DISEASE$ and spontaneous @PHENOTYPICFEATURE$ are reviewed as manifestations of stress fractures.	false
+5a12c365df539785f4d9991e91b319f2c2b078b2	Such patients can present with @PHENOTYPICFEATURE$, ectopia lentis and @DISEASE$ and thromboembolic disease.	false
+6c44145060ff88924b15bb3ce3b5e1bc60db354a	Untreated thyreotoxicosis may lead to serious cardiovasculair complications (particularly cardiac failure and cerebrovascular accidents), @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1f9107f866834a23cb99cf9e3d3c19bbed04fd3c	A large national cohort study of the association between bisphosphonates and @PHENOTYPICFEATURE$ of the jaw in patients with @DISEASE$: a nested case-control study.	false
+d78b2fbe89c8784f50dbcf6ca83f55d9abdd25c9	On patients with @PHENOTYPICFEATURE$, a number of circumstances come into play and may foster a greater frequency of @DISEASE$.	false
+4a30289c16e72b922d540cd9d56d24d4ba5482c0	A large national cohort study of the association between bisphosphonates and @PHENOTYPICFEATURE$ of the jaw in patients with @DISEASE$: A nested case-control study.	false
+183be699e50408d8fc22292fc2f04660f3ec20ab	The comparison of catecholamine metabolism in patients with phenylketonuria, Lesh-Nyham syndrome, congenital @PHENOTYPICFEATURE$ with anhydrosis and @DISEASE$ on the basis of our data and those in the literature suggests that patients with congenital pain insensitivity display abnormal catecholamine metabolism.	false
+95581c784ede45a967c776b5a10a73aa2b5ea47d	All patients except one had an associated @PHENOTYPICFEATURE$, including six patients with @DISEASE$.	false
+4240e1532b85d8c7616da041e3ac253a51acb043	@DISEASE$ (FD) is an autosomal recessive @PHENOTYPICFEATURE$ that affects about 1 in 3,700 individuals of Ashkenazi Jewish ancestry.	false
+a1782cddea8ca705b399407055524b2ea2ddb23a	In @DISEASE$ (FD), a hereditary autonomic and @PHENOTYPICFEATURE$, somatic growth is impaired.	false
+b8561bc3de6e180a551df83fc4b0536201db2979	@DISEASE$ (FD) is a progressive neuropathy, characterized by somatic and @PHENOTYPICFEATURE$, and by a variety of oral and diet disturbances.	false
+c2291844b06aef64ce20463553a42330aa05f4cd	We present a 70-year-old male patient of Greek origin with @PHENOTYPICFEATURE$ of the tongue and face, lower limb muscle weakness, peripheral neuropathy, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional @DISEASE$.	false
+13bd99574aeb453b05ebc32f39dcc9374eb80c5b	We report results for adjusted ionized calcium (at pH 7.4) and actual ionized calcium (at actual pH) in capillary blood from 183 patients with disorders of calcium metabolism (primary hyperparathyroidism, secondary hyperparathyroidism of malabsorption, primary @PHENOTYPICFEATURE$, Paget's disease, acromegaly, hypercalcemia of malignancy, osteoporosis, sarcoidosis, idiopathic hypercalciuria, and @DISEASE$).	false
+b170f9b246042923d289a4465600f8ab72a9f3a3	Activating mutations in the calcium-sensing receptor (CASR) gene cause autosomal dominant @PHENOTYPICFEATURE$, and heterozygous inactivating CASR mutations cause @DISEASE$.	false
+00facd79f9da5b1540be03a029b0cdcfd51c9590	DNA sequence analysis of the CASR gene was undertaken in autosomal dominant @PHENOTYPICFEATURE$ and @DISEASE$ Japanese patients, and the functional consequences for the Gi-MAPK pathway and cell surface expression of CASR were determined.	false
+a8a26ad25e074e42bbb14cb8df2a8ae0113ca98b	CaR cloning was immediately followed by the association of genetic human diseases with inactivating and activating CaR mutations: @DISEASE$ and neonatal severe hyperparathyroidism are caused by CaR-inactivating mutations, whereas autosomal dominant @PHENOTYPICFEATURE$ is secondary to CaR-activating mutations.	false
+ce028232b25e4c06724aa730754e4e7460815016	Mutations of the CASR gene cause @DISEASE$ or autosomal dominant @PHENOTYPICFEATURE$, depending on whether they decrease or increase, respectively, ligand binding to the receptor protein.	false
+a06c11c2e3bb43f39a99632b79e9b16311cf39ef	Physicians caring for such youngsters need to be aware that a variety of @PHENOTYPICFEATURE$ are common in @DISEASE$ and may change or progress over time.	false
+b717c3e9db8b2f9356e6815a35f5800f4e5f1853	Dup(7)(q11.23) patients carry duplications of the genomic region deleted in @DISEASE$, they are characterized by prominent @PHENOTYPICFEATURE$.	false
+37056128752f7d3fd0c92b17719137b911ce8f57	@DISEASE$ is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and @PHENOTYPICFEATURE$, inguinal hernia, infantile hypercalcaemia.	false
+418c894b9cf5e57516b29d5e7bf7cf6b4e2c14fc	@PHENOTYPICFEATURE$ and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 @DISEASE$ region.	false
+ee625bf13424cc9e1c12da179c1ea70dd8879a5a	Both genes are deleted in @DISEASE$, a complex genetic disorder associated with neurocognitive, craniofacial, dental and @PHENOTYPICFEATURE$.	false
+c16824365d3ad469bc4ebbfdf2bb475d5e5c5f06	@DISEASE$ is a developmental disorder that is characterized by cardiovascular problems, particular facial features and several typical behavioral and @PHENOTYPICFEATURE$.	false
+377a1094956b2ab2e87aba41a94a6c839278aff0	@DISEASE$ (WS) is a rare genetic disorder characterized by heart disease, failure to thrive, hearing loss, intellectual or learning disability, @PHENOTYPICFEATURE$, gregariousness, and non-social anxiety.	false
+b4d070907715992e0198317370722e7342e8566a	@DISEASE$ (WS) is a rather rare congenital disorder characterised by a series of cardiovascular, maxillo-facial and @PHENOTYPICFEATURE$.	false
+9b4da8978497199ef5079038807c7b5105651492	@DISEASE$ (BOR) is an autosomal dominant genetic disorder characterized by branchial fistulas, hearing impairment, @PHENOTYPICFEATURE$ and auricular anomalies.	false
+d0c525b16909f0592d7f7bf4b87ee8a10a16264a	@DISEASE$ combines branchial arch defects, hearing impairment and @PHENOTYPICFEATURE$ or hypoplasia.	false
+b212a741d5a5fed410cb7a09605147529a7e3c33	@DISEASE$ is a heterogeneous disorder inherited in an autosomal dominant pattern, characterized by branchial arch @PHENOTYPICFEATURE$ loss and renal abnormalities, with mutations in EYA1 reported in 30-70% of patients.	false
+1558516c70f734dab9a988aa3b63d78f1f38e9f9	@DISEASE$ (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony @PHENOTYPICFEATURE$-like lesions, and others.	false
+56e6cf44539ae039eb0d5c4ac5342da6351c0662	The @DISEASE$ (FGS) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, macrocephaly, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personality with @PHENOTYPICFEATURE$, and disturbances of gastrointestinal function.	false
+0c786067800b737541c8b687a7966df2d7c322fd	These findings, which often occur in the X-linked @DISEASE$, include minor @PHENOTYPICFEATURE$, cleft lip and palate, characteristic facial appearance, gastrointestinal problems and epilepsy, and intellectual disability.	false
+48546f3ac1f3f90c575bde65b2f4a870ef722616	The clinical presentation of homozygous @DISEASE$ mutations may, besides @PHENOTYPICFEATURE$, include microcephaly.	false
+b94bcedc1498f4040d97db5c895dd724dd5f0c8b	The results also show that the polarizing electrotonic potentials in the three simulated ALS cases are specific indicators for the motor nerve disease @DISEASE$ during hypothermia and @PHENOTYPICFEATURE$.	false
+9c9fc5956590bfd84a6ae81d19cc963885d46a60	The results also show that the polarizing electrotonic potentials in the three simulated @DISEASE$ cases are specific indicators for the motor nerve disease ALS during hypothermia and @PHENOTYPICFEATURE$.	false
+094feac0330f7d0a3a1411e29035f0ffc99f27f6	An extensive mutational analysis revealed the same mutation in a Canadian individual with familial @DISEASE$ and a de novo @PHENOTYPICFEATURE$, c.3823C>T (p.	false
+a4ab2aa5c53db0df44c5b60533dae1e04982a0f4	Screening of the IGFALS is important in children with @PHENOTYPICFEATURE$ associated with low serum IGF-I, IGFBP-3 and @DISEASE$.	false
+f790f4a451e94a7e8a9f2b9fe3243c36334c4c89	Patients suffering from diabetes, Cushing's syndrome, @PHENOTYPICFEATURE$, Klinefelter's syndrome or motor neuron diseases, such as @DISEASE$ for example are known to have impaired muscle property and reduced physical performance.	false
+3e450b2d4fdc34e5a03fbce23281dad6c233184e	Several metabolic derangements associated with diabetes mellitus type 2 (DM) have been associated with a better outcome in @DISEASE$ (ALS), including @PHENOTYPICFEATURE$ and obesity.	false
+a661f461a8147d9e8352bdfad189c7d5c626e0f4	Several metabolic derangements associated with diabetes mellitus type 2 (DM) have been associated with a better outcome in amyotrophic lateral sclerosis (@DISEASE$), including @PHENOTYPICFEATURE$ and obesity.	false
+b5f9c483b6e4782722d437a3e9aaea7287d9ce09	[@DISEASE$ with @PHENOTYPICFEATURE$ of left fingers and wrist of extrapyramidal character].	false
+5285e6feacb207c8ff4d16f98a817e8cf39dcb66	Here we report a 23-year-old man with alacrimia, achalasia, @PHENOTYPICFEATURE$ and progressive @DISEASE$-like presentations.	false
+7283d50a95686cfe6c36bebf11b6bafc2ee3a98f	Our findings extend the mutation spectrum in FUS leading to @DISEASE$ and describe the first de novo @PHENOTYPICFEATURE$ in FUS.	false
+36a6b6931727fccfe830a6dfb10cd16224206e8e	The main reasons for using IT were to treat weakness and fatigue, muscle atrophy, the development of @DISEASE$, depression, insomnia, @PHENOTYPICFEATURE$ or numbness, and side effects associated with Riluzole.	false
+15e51ae92651b5a7505cbc6f69d6da8e43b371e5	Otsuka-Long-@DISEASE$-Tokushima Fatty (OLETF) rat, a genetic model of spontaneous development of NIDDM, exhibits @PHENOTYPICFEATURE$ obesity with hyperinsulinemia and insulin resistance similar to that in humans.	false
+837400d664fa669de45a6542804e07a852b31ec6	When transition to an alternate formula was possible, biochemical status improved shortly after introduction to the alternate formula, with @DISEASE$ improvement of @PHENOTYPICFEATURE$.	false
+6cd2b5f32c4ae20552f38ba6099b1db0a7e7456e	Two boys had a @PHENOTYPICFEATURE$ @DISEASE$ under basal conditions; the one with elevated TSH-response showed an excessive response of prolactin as well.	false
+86ce3f41eed6ce5f79ef2e150f9205d93813d8ba	The subtype of @PHENOTYPICFEATURE$ present, including nuclear, cortical, posterior subcapsular, and anterior @DISEASE$ cataracts, was noted.	false
+eccc24af25390ce3e08d0891370ea92abd5534da	Tibial lengthening and concomitant @PHENOTYPICFEATURE$ correction in 14 patients with permanent deformity after @DISEASE$.	false
+66cae128476147d3644ad39cd911d44d3abe09c4	The medical records of 29 consecutive patients (16 males, 13 females) with posterior @DISEASE$ cataracts (44 eyes) who had undergone @PHENOTYPICFEATURE$ surgery were retrospectively reviewed.	false
+39aa900491b2ec0d8b1cabd7080a82ef5ee61e6e	Pyramidal anterior polar cataracts are present at birth and may represent a variant of anterior @DISEASE$ @PHENOTYPICFEATURE$.	false
+e4eb7b0abe43f03b6643e95cc228bdade2861fc4	Pyramidal anterior @DISEASE$ cataracts are present at birth and may represent a variant of anterior polar @PHENOTYPICFEATURE$.	false
+6a712fe5ba8db38df52e03e3e69f9b735e1d8797	Correction of @DISEASE$ @PHENOTYPICFEATURE$ with Ilizarov method.	false
+0ff196905da80dc1e41117422c8a2f74707ff287	A condition is described which is characterized by @PHENOTYPICFEATURE$ and congenital anterior @DISEASE$ cataract, transmitted in an autosomal dominant fashion.	false
+85c827602ca7869de40ed20a690fcb46ecea10fa	Anterior @DISEASE$ cataract (APC) is a rare hereditary form of @PHENOTYPICFEATURE$.	false
+73c0bb445f06c01bfa41e760bec0a2889f402434	Posterior @DISEASE$ cataracts (PPC) have always been a challenge for @PHENOTYPICFEATURE$ surgeons due to their inherently higher propensity for posterior capsule rupture.	false
+fd4ee136c3acb56d7c6fb597d187cefabd1c770d	A 17-year-old patient presented with paralytic valgus left @PHENOTYPICFEATURE$ after @DISEASE$.	false
+a7bae00e9c8ba26788d3d5ef64b6144ad7116093	One hundred and ninety-one feet with residual cavovarus deformities from @PHENOTYPICFEATURE$ or @DISEASE$ were treated by a plantar release followed by correction with serial cast application.	false
+5eaed9d4562e045d54944319fd6655b1c7fe524d	They reflect on various neurological diseases such as myasthenia gravis, @DISEASE$, @PHENOTYPICFEATURE$ and central core disease, paraneoplastic myasthenic syndrome, hereditary migraine and ataxias, hypokalemic periodic paralysis, and bulbospinal muscular atrophy.	false
+f044388acde8dbc0588c4c7a1e97a96b9164d2a7	This is a retrospective case-control study with 78 CMS recipients as the case group who received @DISEASE$ and another 312 community-dwelling frail elders as the control group.The groups were matched by age, gender, activity of daily living, @PHENOTYPICFEATURE$, and unsteady gait.	false
+4be4637d10502902d07436185b1ddddca4daf0bd	@PHENOTYPICFEATURE$ in depression can be modelled using the novel object recognition (NOR) test, performance in which is impaired by chronic mild stress (@DISEASE$).	false
+7b818ce8e2bc5ee34a269ad7f906bca444ebabff	Here, we have investigated whether anti-dementia drugs would have antidepressant-like and pro-cognitive effects in a well-validated animal model of depression and @PHENOTYPICFEATURE$, chronic mild stress (@DISEASE$).	false
+b1cafa2ef69f364992632df836a88bec0cb188e7	These channelopathies produce a range of disorders which include: periodic paralysis, myotonias, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+29b696f240366f562bcae539e93b71fa1c05b9d7	Peripartum cardiomyopathy (PPCM) is an idiopathic cardiomyopathy presenting with @PHENOTYPICFEATURE$ (HF) secondary to left ventricular systolic dysfunction towards the end of pregnancy or in the months following delivery, where no other cause of @DISEASE$ is found.	false
+12b6bf03313f4b7df3785777c6db0e0cf44b31b7	High-risk patients using the REACH score were those with 2 or more vascular beds affected, history of @PHENOTYPICFEATURE$ (HF), or renal insufficiency, and by CART analysis were those with??2 vascular beds affected, history of @DISEASE$, or diabetes.	false
+7d511d3341bf071e16d1654886ade0650f1c92aa	In one patient with @DISEASE$ the transplantation was undertaken despite good clotting factor synthesis, because an @PHENOTYPICFEATURE$ occurred.	false
+c091595f3f579e6ad26de8e8ad0a9002dd298d49	The predominant neurological manifestations in this cohort of newly diagnosed @DISEASE$ patients were @PHENOTYPICFEATURE$ and tremor.	false
+efb9c7328a19b3e2c1eda6a1225f3c233aeb5ebd	@DISEASE$: a reversible cause of @PHENOTYPICFEATURE$.	false
+6775109ce1ad30c834518b8222ac6421211f8e5d	If left untreated, @DISEASE$ progresses to hepatic failure, severe neurological @PHENOTYPICFEATURE$, and even death.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+435266a4d372ba15a4d656697a6223a596f3f16b	Predominant @PHENOTYPICFEATURE$, low ceruloplasmin, and absent K-F rings: hypoceruloplasminemia or @DISEASE$.	false
+a56c1e037c4f959a4b646c41e089f3149efddb0c	Characteristics of neurological @DISEASE$ with @PHENOTYPICFEATURE$.	false
+b39fbdcb4c8054a094cd9df574b173c367929edf	Circling @PHENOTYPICFEATURE$ in a case with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+862da51a2280b350f1dbc9819168a0ce8d680fc2	We report a case of @DISEASE$ with circling @PHENOTYPICFEATURE$.	false
+bff491b463c2cc9d2ff8d44e3687b00ab658aa5d	@DISEASE$ associated with atypical facial @PHENOTYPICFEATURE$: a case report.	false
+dbd40843765bf46df9c627161c935daa88073842	@DISEASE$, mild unilateral @PHENOTYPICFEATURE$ and hydrocephalous due to aqueduct stenosis were recorded in 3.82% (n=8) of each group.	false
+cad4ab4e55502c3e99a58d04687ec897c7535cb3	We investigated @DISEASE$ and U87-MG GBM orthotopic @PHENOTYPICFEATURE$ in mice, and used MRI, hyperpolarized (13)C MRSI, and (1)H MRS to monitor the effects of treatment.	false
+ae9037132d6e02dd8fc424c3c8e34246901170b4	Blood clearance of radioantibody was twice as fast in mice with @DISEASE$ @PHENOTYPICFEATURE$ than in mice with GW-39, LS174T or Moser tumors.	false
+46edd74130ba7246905d094fa3985fdccc9dc417	Blood clearance of radioantibody was twice as fast in mice with @DISEASE$ tumors than in mice with GW-39, LS174T or Moser @PHENOTYPICFEATURE$.	false
+04709ad30a0e440e950f1a287cf31021695a41bd	Mice with orthotopic @DISEASE$ tumors, and receiving a single 100 mg/kg dose of temozolomide showed a lengthy period of decreased @PHENOTYPICFEATURE$ luminescence, with substantially increased survival relative to untreated mice (P < 0.001).	false
+cf1b28bb2decd97c5db8f55b18d15ad8dec27e38	Mice with orthotopic @DISEASE$ @PHENOTYPICFEATURE$, and receiving a single 100 mg/kg dose of temozolomide showed a lengthy period of decreased tumor luminescence, with substantially increased survival relative to untreated mice (P < 0.001).	false
+f19e509840316caa2c0f224784b477c9422e3ffd	MALDI imaging showed GDC-0084 distributed evenly in brain and intracranial U87 and @DISEASE$ @PHENOTYPICFEATURE$.	false
+b6705988fb59643a454e2bfc94df7ff758abb9bb	We present a 13-year-old girl with @DISEASE$, who developed a hemophagocytic syndrome along with marked @PHENOTYPICFEATURE$ and elevated plasma creatine kinase.	false
+7b4257e7fbda35f8541ded6faba6ddd75d9e9352	Variable infiltration was evident among the different tumors, with @DISEASE$ @PHENOTYPICFEATURE$ cells exhibiting the greatest degree of infiltration.	false
+a3db71722aefabae2d116d5b809f8ade45b1fc05	Variable infiltration was evident among the different @PHENOTYPICFEATURE$, with @DISEASE$ tumor cells exhibiting the greatest degree of infiltration.	false
+bae43c4fbe05080f68a0632bf6fd00f03a223fb5	@DISEASE$ @PHENOTYPICFEATURE$ are well differentiated and have polarized cells.	false
+73ecc0d11b6998b04a52312e51b1c1f6df743aa4	The study was performed on a highly invasive non-enhancing orthotopic GBM @PHENOTYPICFEATURE$ model in rats (@DISEASE$ tumors), which replicates many fundamental features of human GBM tumors.	false
+287d22408c1c39eb6c204bb73da9c95600148e3b	The study was performed on a highly invasive non-enhancing orthotopic GBM tumor model in rats (@DISEASE$ tumors), which replicates many fundamental features of human GBM @PHENOTYPICFEATURE$.	false
+e4d86bfaa1bbbab34937b594bbcdd7fff0509fb6	The study was performed on a highly invasive non-enhancing orthotopic GBM tumor model in rats (@DISEASE$ @PHENOTYPICFEATURE$), which replicates many fundamental features of human GBM tumors.	false
+31580372ab0a50c1b2d1772cb9962d580bc83929	Antibody uptake for LS174T and GW-39 tumors was relatively high (19 to 23% ID/g on day 3), whereas moderate uptake was seen in the Moser @PHENOTYPICFEATURE$ (7.5% on day 3) and low uptake was detected in the @DISEASE$ tumor (1.8% on day 3).	false
+051b093672934cb12aed3d65fe9f7dbe9080eef7	Antibody uptake for LS174T and GW-39 tumors was relatively high (19 to 23% ID/g on day 3), whereas moderate uptake was seen in the Moser tumor (7.5% on day 3) and low uptake was detected in the @DISEASE$ @PHENOTYPICFEATURE$ (1.8% on day 3).	false
+344a6075a4d890d6aaea5caff7ab63d6e140bf84	Antibody uptake for LS174T and GW-39 @PHENOTYPICFEATURE$ was relatively high (19 to 23% ID/g on day 3), whereas moderate uptake was seen in the Moser tumor (7.5% on day 3) and low uptake was detected in the @DISEASE$ tumor (1.8% on day 3).	false
+ce136018de41cc5a6fdfe705567b09c4e4770287	Supporting these findings, @PHENOTYPICFEATURE$ growth inhibition achieved by everolimus in murine @DISEASE$ xenografts was associated with a drop in the hyperpolarized lactate-to-pyruvate ratio detected by in vivo MRS imaging, whereas an increase in this ratio occurred with tumor growth in control animals.	false
+105a86906225b004a7701ab86dcd2b2ea4adbf49	Supporting these findings, tumor growth inhibition achieved by everolimus in murine @DISEASE$ xenografts was associated with a drop in the hyperpolarized lactate-to-pyruvate ratio detected by in vivo MRS imaging, whereas an increase in this ratio occurred with @PHENOTYPICFEATURE$ growth in control animals.	false
+69a7428374d0f4663dca6ae49a66a37fe31456ee	Distinctive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a55ef208a44fcf10afb1bf7eb81c8b5fead257f5	Defects in the DNA repair mechanism nucleotide excision repair (NER) may lead to @PHENOTYPICFEATURE$ in xeroderma pigmentosum (XP) or to premature aging with loss of subcutaneous fat in @DISEASE$ (CS).	false
+28682edd753ce179cecfa863fe28c490c64f1ffe	Defects in TC-NER in humans are associated with @DISEASE$ (CS), a disease not linked to @PHENOTYPICFEATURE$ development.	false
+65905e71331329a0a4012ccbf228d1106b217548	Previous reports concerning children with @DISEASE$ had described decreased T cell proliferative responses and @PHENOTYPICFEATURE$ which could be associated with immunologic disturbances.	false
+03f02c82530d52bd0e52a7ee946852b19ee37670	Inhibition of key proteins involved in the molecular cascade of DNA damage detection and repair such as poly (ADP) ribose polymerase I (PARP-1) and its interacting proteins [DNA dependent protein kinase (DNA-PK) and @DISEASE$ group B (CSB)] has recently proven to be successful for the treatment of various types of cancer cells and @PHENOTYPICFEATURE$ xenografts in vitro.	false
+5c1eb6fecb887fc763c8fa6eb0692dba3a0f32ea	We present here the results of experiments designed to assess the efficacy of a BAC-free and EDTA-free formulation of ciprofloxacin, Ciprofloxacin-polystyrene sulfonate (@DISEASE$), in experimental models of Pseudomonas aeruginosa and Staphylococcus aureus @PHENOTYPICFEATURE$.	false
+b8bc28d55fefd59b0e0d2d4686bc23e93824f870	@PHENOTYPICFEATURE$ was found in @DISEASE$ patients in frequencies above 4000?Hz.	false
+1506a5a2732161fa698c49257fd98d40ffb648b8	The importance of early recognition of postsplenectomy sepsis (@DISEASE$) is emphasised since the survival rate is poor and the risk of @PHENOTYPICFEATURE$ high.	false
+890f83308b58bcabab477bcc155698baab26b02e	A case with @DISEASE$ (homozygous c.64dupG mutation) presented with @PHENOTYPICFEATURE$, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.	false
+4adf149ecc9199b832cad41208cd8c4dd3b48a77	Here, we reviewed several channelopathies including @DISEASE$, familial hemiplegic migraine, episodic ataxia type 2, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+f856f62a57d3778546273587a2050374ca15b16c	We present two cases of @DISEASE$, aged 24 and 19 years old, who had craniectomy for trauma and craniotomy for @PHENOTYPICFEATURE$ excision, respectively.	false
+8b2bebd0921522bde8b7bbf3ff8445eac64410c0	The @PHENOTYPICFEATURE$ studied were: Lewis lung carcinoma (3LL), B16 melanoma (B16), JW sarcoma (@DISEASE$) and the M4 variant of the mFS6 fibrosarcoma (M4).	false
+e0d6adba400802394c495a5abe2bd0723fd9f2fe	Extracts from 3LL, B16 and @DISEASE$ @PHENOTYPICFEATURE$ initiated coagulation in both the presence and absence of F VII, their procoagulant activity was sensitive to iodoacetamide (1 mM) and mercury chloride (0.1 mM).	false
+5b4f8dca67641d0b39379d21eb8b709c4a88d2c1	In both tumors a positive, significant correlation was found between @PHENOTYPICFEATURE$ weight and tumor CO fraction, but %CO/g was lower in 3LL 2 and 3 weeks after transplantation, whereas it did not change in @DISEASE$.	false
+801f503908f3e0870c417c89c4282b002dd4e8b2	In both @PHENOTYPICFEATURE$ a positive, significant correlation was found between tumor weight and tumor CO fraction, but %CO/g was lower in 3LL 2 and 3 weeks after transplantation, whereas it did not change in @DISEASE$.	false
+9421d9c2f24a76a3e261a6c9641dfba21170a8f7	In both tumors a positive, significant correlation was found between tumor weight and @PHENOTYPICFEATURE$ CO fraction, but %CO/g was lower in 3LL 2 and 3 weeks after transplantation, whereas it did not change in @DISEASE$.	false
+12cd3ef6dba9a2671258b7d36f9c4f8397d8587e	The present study suggests that the procoagulant(s) present in the murine @PHENOTYPICFEATURE$ 3LL, B16 and @DISEASE$ are enzymatically and immunologically indistinguishable from cancer procoagulant of the rabbit V2 carcinoma.	false
+685022eaef50d4e702ea1330f72defc854d81df0	Twenty-one cases were identified, with 13 patients diagnosed as brown @PHENOTYPICFEATURE$ of hyperparathyroidism (BTH) and 8 as osteitis fibrosa/renal osteodystrophy (OF/RO) (4 of them clinically consistent with @DISEASE$).	false
+4e30adf6d6dcc48e192add6ee976c5cdcec2ab12	Four patients metthe criteria for @DISEASE$: chronic renal insufficiency, secondary hyperparathyroidism, short stature, severe changes in the skull and jaw that lead to festoon-like uglifying face, dental abnormalities, "brown" @PHENOTYPICFEATURE$, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+de20bb4f40ef29ae3e76e99979e8d160fa99e4d3	Castleman's disease (CD), or @DISEASE$, is a rare lymphoproliferative disorder that can be associated with @PHENOTYPICFEATURE$.	false
+22bdf668de39ad7c5f7a07800cb034d9b9bfe906	It is characterized by @PHENOTYPICFEATURE$, elevated vascular endothelial growth factors (VEGFs), monoclonal gammopathy, sclerotic bone lesions and @DISEASE$.	false
+42fa720d9a2bf0a535e3cfb63ad5c0160c16729f	Multicentric @DISEASE$ with @PHENOTYPICFEATURE$, pseudotumor cerebri, IgA dysproteinemia, and thrombocytosis in women.	false
+05cc3e59e86b0464ad6dfaa19124f4a120c610d4	Four women with multicentric @DISEASE$ had a distinct clinical syndrome characterized by @PHENOTYPICFEATURE$, pseudotumor cerebri, IgA dysproteinemia, and thrombocytosis.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+d73398bf3e5aba6b07e43e00ef35d5a7e5f01113	Patients with associated @PHENOTYPICFEATURE$ were identified and divided into 2 groups: those with @DISEASE$ without POEMS syndrome (CD-PN) and those with Castleman disease with POEMS syndrome (CD-POEMS).	false
+495ae4f08298de85e00f3d00f0e7d4013b22b399	Patients with associated @PHENOTYPICFEATURE$ were identified and divided into 2 groups: those with Castleman disease without POEMS syndrome (CD-PN) and those with @DISEASE$ with POEMS syndrome (CD-POEMS).	false
+0453a149e1fea830d8d26eaedcec1b83779f003f	@DISEASE$, plasma-cell type, of the mediastinum, with @PHENOTYPICFEATURE$.	false
+0ac1b6d19ad35e964a168d82514ddecbfe2dbcca	@DISEASE$ with associated @PHENOTYPICFEATURE$ has not been reported previously.	false
+01e13added8cd3e52d4490d1caaa644b0e938a22	A patient with systemic Castleman's disease (@DISEASE$) including bone changes and @PHENOTYPICFEATURE$, is described.	false
+9a00fbb1de30e341cf6eb06a53f97fafccda90f9	A patient with systemic @DISEASE$ (angiofollicular lymph node hyperplasia) including bone changes and @PHENOTYPICFEATURE$, is described.	false
+40f4776e16ebbe689b31306ebcbdafdcda388ed6	@DISEASE$ should be included in the differential diagnosis of @PHENOTYPICFEATURE$ associated with lymphadenopathy or a mediastinal mass.	false
+e271f5986b6f75dc06feece27f504f88b2d370ff	In our original work on this technique, however, we did not assess type I error control or power and evaluated the method using just a single, @DISEASE$ @PHENOTYPICFEATURE$ data set.	false
+e99433a8e5a8eca8c28044f887853672a03ee8a3	Using EDI-OCT, retinal tumors such as @DISEASE$ retinoblastoma, astrocytic @PHENOTYPICFEATURE$, and hemangioblastoma arose abruptly from the retina, immediately adjacent to normal retina.	false
+630da449ad727902de358acfc5736f1bc8d8a561	Retinal tumors such as @DISEASE$ retinoblastoma, astrocytic @PHENOTYPICFEATURE$, and hemangioblastoma arose abruptly adjacent to normal retina.	false
+ba44abea206ab3860b16a0985fefcb9b9f515b5e	We report a patient with multiple trichoepitheliomas whose biopsy material also demonstrated a range of other neoplasms with follicular differentiation, including @DISEASE$ nodular trichoblastoma, small nodular basal cell carcinoma (BCC), and areas resembling infundibulocystic BCC/basaloid follicular @PHENOTYPICFEATURE$.	false
+31c64dbe7fcc67980a589ca406122aabcf3f7cf5	We report a patient with multiple trichoepitheliomas whose biopsy material also demonstrated a range of other neoplasms with follicular differentiation, including small nodular trichoblastoma, @DISEASE$ nodular basal cell carcinoma (BCC), and areas resembling infundibulocystic BCC/basaloid follicular @PHENOTYPICFEATURE$.	false
+0b8efe328bb932c8c0d46bb14cb8ca68677516de	It consisted of a collection of multiple @DISEASE$ tumors, each histologically typical of a chondromatous @PHENOTYPICFEATURE$.	false
+b62b5442c7ed4889311ec198c256c03d55eb767b	Solid pancreatic @PHENOTYPICFEATURE$ was sometimes associated with minor pancreatic abnormality, and multiple @DISEASE$ lesions other than the main tumors were detected in a small number of cases.	false
+43014faca29cca1f998868c61befffe00da1d71a	We report a recent case of @DISEASE$ bowel atresia and @PHENOTYPICFEATURE$ in a newborn.	false
+87258872640faba1d6c686e6b3d09ca4854f4a00	Oncogenic osteomalacia is caused by a @DISEASE$ mesenchymal tumour characterised by phosphaturia, @PHENOTYPICFEATURE$, decreased serum vitamin D3 level, and osteomalacia.	false
+011b80d42ef5d85fb616d90aab54914f2c831a93	Peutz-Jeghers syndrome was diagnosed based on the presence of an STK11 gene mutation or on the association of a @PHENOTYPICFEATURE$ with 2 of 3 criteria (family history, mucocutaneous pigmentation, @DISEASE$ bowel polyposis).	false
+d2a14ece8859de5a391e318e28d89c99bdcff200	Two patients presented with @PHENOTYPICFEATURE$ osteomalacia and were subsequently found to have @DISEASE$ tumours unusual histopathology and location causing the osteomalacia.	false
+c91738e4c273d29eec0124e010df86f5f0e2182e	We identified and characterized the function of a new homozygous FOXE1 missense mutation (p.R73S) in a boy with a typical phenotype (@DISEASE$, @PHENOTYPICFEATURE$, and partial choanal atresia).	false
+c0c29e9df4e0d5879b10b605809af600f0efe02c	Velo-cardiofacial syndrome (VCFS) and @DISEASE$ (DGS) are developmental disorders characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	false
+e9fd5512c0e76faa866c430fe24e73255e749aec	Velo-cardiofacial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are developmental disorders characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	false
+c604effb76eb0c3c93b654a95bd0d1c15f2bc338	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+0fe0b18732a155d199f5b63f39ea0e99387d93e4	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+6b1747c037bd052faaa8e3c72a4d677c0e64f3a0	Velocardiofacial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of abnormalities, including @PHENOTYPICFEATURE$, velopharyngeal insufficiency, craniofacial anomalies and learning disabilities.	false
+ad34d4f245484e19c93c7678baad44b741006150	Velocardiofacial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of abnormalities, including @PHENOTYPICFEATURE$, velopharyngeal insufficiency, craniofacial anomalies and learning disabilities.	false
+cad323fc66b359d8831f62fe77bbf65bf69c7d07	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+279f9cb8cb831a069559515359354190b709330f	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+ed960501119ae0e955ebc24011ecbd8c9e111449	Microdeletion of 22q11 is responsible for @DISEASE$, velocardiofacial syndrome, congenital @PHENOTYPICFEATURE$, and related disorders.	false
+4509e2f4de7d9eab3e2ee572a3f9a5b9405e87de	DiGeorge syndrome (@DISEASE$) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and @PHENOTYPICFEATURE$, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2).	false
+2c4751f8b9210161d91c5723991c9fab45f56509	@DISEASE$ (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and @PHENOTYPICFEATURE$, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2).	false
+822b0cb487ea7c3435a8164efd4c9410c9d92911	Velo-cardio-facial syndrome (VCFS) and @DISEASE$ (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, @PHENOTYPICFEATURE$ and facial dysmorphology among others.	false
+d15d5f175de4c6509742f4874c71f9f9daed5635	Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (@DISEASE$) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, @PHENOTYPICFEATURE$ and facial dysmorphology among others.	false
+ed960501119ae0e955ebc24011ecbd8c9e111449	Microdeletion of 22q11 is responsible for @DISEASE$, velocardiofacial syndrome, congenital @PHENOTYPICFEATURE$, and related disorders.	false
+d7cd1cf97237955c26e9ce052087cd7bc1461fd6	It includes sacral meningomyelocele and @PHENOTYPICFEATURE$, unlike @DISEASE$.	false
+38dcf0f984aac6422d0af5e736014f3bed9b8989	IAA type B has been associated with DiGeorge syndrome (@DISEASE$), which includes @PHENOTYPICFEATURE$, T-cell immunodeficiency, hypocalcemia, and facial abnormalities.	false
+52270b7935b063df92c35e98bb57bbb797b2d93d	IAA type B has been associated with @DISEASE$ (DGS), which includes @PHENOTYPICFEATURE$, T-cell immunodeficiency, hypocalcemia, and facial abnormalities.	false
+a7f8e89ff4d9a289319636a3ad86409ce59acc1b	@PHENOTYPICFEATURE$ in Taiwanese patients with @DISEASE$.	false
+d9cebf123023079518e8255250d378ab7b64e477	@PHENOTYPICFEATURE$ is a common feature of mucopolysaccharide storage disorders, mostly considered to be a consequence of skeletal changes, Maroteaux-Lamy disease is a subtype of @DISEASE$, demonstrating somatic changes and skeletal deformities.	false
+a8d725168cba1a844e723996294da2ac17f6915b	@DISEASE$ IVA (OMIM 253000; also known as Morquio A syndrome) is associated with skeletal, airway, and @PHENOTYPICFEATURE$.	false
+6d280fbf90bbcaf7ef22e79ca483b9af343465a9	@DISEASE$ VI, also called as Maroteaux-Lamy syndrome, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, @PHENOTYPICFEATURE$, and central nervous system deterioration.	false
+738bc8e0fab4d764e57d1d0065dace4398a41924	We describe two female infants with Hurler syndrome (@DISEASE$ I) whose deaths are attributed to @PHENOTYPICFEATURE$ with associated, autopsy-confirmed endocardial fibroelastosis.	false
+a46d365025eb6272e011a1a1606f330efa9c0323	@PHENOTYPICFEATURE$ have been observed in patients with @DISEASE$ (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy.	false
+343b52bf0fb77a2453ce1014d82aad50cdbaee02	To describe @PHENOTYPICFEATURE$ in patients with @DISEASE$ (MPS) VI and to evaluate the impact of enzyme replacement therapy (ERT) on cardiac structure and function.	false
+9ed7a31f1821bbecccee27f5cf8fcf1ef0a2c34b	Therefore, we recommend patients with @DISEASE$, especially those who have @PHENOTYPICFEATURE$, to be evaluated by hormonal and radiological studies.	false
+a53c850d90d304af93c7ad6bb06258a64d86109f	@DISEASE$ with mental retardation, @PHENOTYPICFEATURE$, and neurologic deficits.	false
+52b8cc63d3a0576e75abdab7870d1166ae4e5a13	@DISEASE$ with @PHENOTYPICFEATURE$, seizures, and neurologic deficits.	false
+8822ecdd4e1b296bc3aed04808cdfaee24a6d7b1	The differential diagnosis of pyridoxine or PLP responsive @PHENOTYPICFEATURE$ disorders includes PLP-responsive epileptic encephalopathy due to PNPO deficiency, neonatal/infantile hypophosphatasia (TNSALP deficiency), @DISEASE$ (PIGV deficiency), as well as yet unidentified conditions and nutritional vitamin B6 deficiency.	false
+8360f2ed57b6db09a3e090dbc5e1a1eb78ba31b9	@DISEASE$ is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, seizures, and severe @PHENOTYPICFEATURE$.	false
+4454628dab04dcfa6eeed2f26274e84567fbaf26	We describe two sisters affected by @DISEASE$ associated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and @PHENOTYPICFEATURE$.	false
+f80adb5d5f4a6bfe19de60da82ab33eafa207b69	PRDM16 was recently identified as a causative gene of left ventricular non-compaction and dilated cardiomyopathy in @DISEASE$, which is characterized by heart failure, @PHENOTYPICFEATURE$ and sudden cardiac death.	false
+634e5c9c08a5296beb1ea9cafaacdc718da42388	@DISEASE$ with severe hand and @PHENOTYPICFEATURE$ successfully treated with surgical excision.	false
+b5aa0013c54125487d8a0d50b38fbca4ba48619d	In rare cases, @PHENOTYPICFEATURE$ is associated with systemic disease such as ankylosing spondylitis, rheumatoid arthritis, and @DISEASE$.	false
+6ea0ddc8caa49a048aa25d38f7a16c10152b4fda	Thus, biologics are a reasonable treatment option for patients with severe @DISEASE$ with @PHENOTYPICFEATURE$ on HD.	false
+5d172551b593146c4ccce942a8596286e362d33e	Other pathologies strongly associated with sub-optimal levels of vitamin D include: falls in elderly, @PHENOTYPICFEATURE$ and pain, and @DISEASE$.	false
+f75894afa62a11506f926038a1bd21f19ace6a4d	The relationships among @DISEASE$, @PHENOTYPICFEATURE$, 1.25(OH)2D3, serum calcium level and dialysis are discussed.	false
+4f590d0c89efe46d1406e67e2e80ade1f9110c7b	The most common skin manifestations of alcoholism presented in this review article are urticarial reactions, porphyria cutanea tarda, flushing, cutaneous stigmata of @PHENOTYPICFEATURE$, @DISEASE$, pruritus, seborrheic dermatitis, and rosacea.	false
+a9a817ec83f692fdf9b626a58e07ff1003783705	We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, @PHENOTYPICFEATURE$, @DISEASE$ vulgaris and tracheo-esophageal fistula.	false
+6ddded8a2772360be34e9debcb802605f671fe11	We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, @PHENOTYPICFEATURE$ of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, @DISEASE$ vulgaris and tracheo-esophageal fistula.	false
+94d196f5e24259e9f821ad3126767a505958e515	We describe a patient with a long history of @DISEASE$ who developed severe erythrodermic psoriasis associated with lethargy, @PHENOTYPICFEATURE$ and collapse.	false
+e3a69aeb76275c46076557774f2f7310ba40d587	We describe a patient with a long history of psoriasis who developed severe erythrodermic @DISEASE$ associated with lethargy, @PHENOTYPICFEATURE$ and collapse.	false
+596e4e06add92018698b8034e4aa233034a13a06	The first patient had a chronic lithium intoxication with @PHENOTYPICFEATURE$ and eventually coma, diabetes insipidus, hyperthyroidism, hyperparathyroidism and @DISEASE$.	false
+80bda7726e10f4dc3132d1525dc23de6191d5d50	They include soft fibromas, acanthosis nigricans, striae, xerosis, keratosis pilaris, @PHENOTYPICFEATURE$, fungal and bacterial skin infections, granuloma annulare, necrobiosis lipoidica, @DISEASE$, and atopic dermatitis.	false
+5a439bf07f5700514b409f8c2e08b31f30d1feda	Our experience with this patient expands the spectrum of ustekinumab to include @DISEASE$ patients with @PHENOTYPICFEATURE$ undergoing hemodialysis.	false
+74c919fc6fe929a8b7999c9f586bcdc43b38e50d	Though the extent of @PHENOTYPICFEATURE$ spreading in the rectosigmoid was deeper in @DISEASE$ than in IDS, the frequency of tumor involvement of the rectosigmoid in patients who had undergone modified posterior exenteration during PDS was equivalent to that in the IDS group.	false
+9d2da9357dee119cbc25ef6b618f9629201cc460	Though the extent of tumor spreading in the rectosigmoid was deeper in @DISEASE$ than in IDS, the frequency of @PHENOTYPICFEATURE$ involvement of the rectosigmoid in patients who had undergone modified posterior exenteration during PDS was equivalent to that in the IDS group.	false
+88a3f3309bf7d728f6510de7d55a82f8ca45db3b	Though the extent of @PHENOTYPICFEATURE$ spreading in the rectosigmoid was deeper in PDS than in IDS, the frequency of tumor involvement of the rectosigmoid in patients who had undergone modified posterior exenteration during @DISEASE$ was equivalent to that in the IDS group.	false
+f0125a207b6ba4a28442733f7efbd1ad0afd0ca8	Though the extent of tumor spreading in the rectosigmoid was deeper in PDS than in IDS, the frequency of @PHENOTYPICFEATURE$ involvement of the rectosigmoid in patients who had undergone modified posterior exenteration during @DISEASE$ was equivalent to that in the IDS group.	false
+2c160a49295f8d6198c82813189869f8ebe2b261	Peritoneal dialysis solution (@DISEASE$), widely used to treat uremia and @PHENOTYPICFEATURE$, may contain toxicants that have leached from their plastic storage bags.	false
+6d377f248513ac24340f9981266333dd380720e8	Pleomorphic dermal sarcoma (@DISEASE$) is a rare mesenchymal tissue @PHENOTYPICFEATURE$.	false
+a5290e3d8d1664a6c5a5c224282d95896d48d336	Tertiary centers display significant differences among patient selection for @DISEASE$, as well as achieving no residual @PHENOTYPICFEATURE$.	false
+0fb6d5e43891e87baab80627314d34c54ba01e38	This method represents a possible new @PHENOTYPICFEATURE$ screening method called photodynamic screening (@DISEASE$) using ALA-induced porphyrins.	false
+aba75b37dea08404cdbeed66bafa72fe5881f65b	Our findings support the concept that AFX and @DISEASE$ belong to a common @PHENOTYPICFEATURE$ spectrum.	false
+7271359d8ddc8437f3fb5e41bb6517f18e605799	In conclusion, RMI alone is not an optimal method to determine whether complete @PHENOTYPICFEATURE$ removal is possible with @DISEASE$.	false
+a3349b8afa935ce6c4a3cf3c06aead037c6b234d	In dermatologic oncology, differentiating between AFX and @DISEASE$ is pivotal as @PHENOTYPICFEATURE$ with histological features consistent with PDS are more likely to behave in a clinically aggressive manner.	false
+b2124542e939efd2414bb6749d3ad2ebe164ad99	In dermatologic oncology, differentiating between AFX and PDS is pivotal as @PHENOTYPICFEATURE$ with histological features consistent with @DISEASE$ are more likely to behave in a clinically aggressive manner.	false
+6600f074b4631edaead7d552b524a835e7477886	The @PHENOTYPICFEATURE$ was completely excised and the underlying orbital wall defect was repaired with polydioxanone (@DISEASE$) plate.	false
+93fe669e777881d56ebe05c46661789b41363fd2	Nonserous (type 1) @PHENOTYPICFEATURE$ with favorable prognosis are less chemosensitive, and omitting optimal @DISEASE$ will lead to less favorable outcome.	false
+fce40f059466fad0f24d992142d40fcfc28c3bac	We found no correlation between the electrophysiological severity of @DISEASE$ and the severity of basal joint @PHENOTYPICFEATURE$.	false
+c5254287ed65d3ba67ada59e0ed337db5e9b6bd1	Abnormalities in the skin and periarticular tissues result in syndromes limiting joint movement, including @PHENOTYPICFEATURE$, Dupuytren disease, flexor tenosynovitis, @DISEASE$, stiff-hand syndrome, and shoulder-hand reflex dystrophy.	false
+8a2412a3d8ff18f9998828cbc337072bc91a6fd3	Arthropathy, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+03a3487d3e020fbc39b81726f2226e8265c2765a	The relationship between basal joint @PHENOTYPICFEATURE$ and @DISEASE$: an MRI pilot study.	false
+168bcc2d5e4cb69295d397f1fef4ba58bb23a401	Cervical arthritis, basal joint @PHENOTYPICFEATURE$, and trigger digit commonly coexist with idiopathic @DISEASE$.	false
+ad37905d5d756747241d22b09939facaf018462b	Tophaceous gout presenting with bilateral hand @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b95517532e76cd5c13ea6758f243f5d00a108027	The DASH was responsive for those with @DISEASE$ (0.77), wrist pain (0.61), and tumor (0.55); the MHQ was responsive for those with carpal tunnel syndrome (1.04), wrist pain (0.87), and finger @PHENOTYPICFEATURE$ (0.62); and the PSFS was responsive for those with carpal tunnel syndrome (0.65) and finger contracture (0.64).	false
+8a7efb92656b30440139a128ad0c2b4a8be1999c	The DASH was responsive for those with carpal tunnel syndrome (0.77), wrist pain (0.61), and @PHENOTYPICFEATURE$ (0.55); the MHQ was responsive for those with @DISEASE$ (1.04), wrist pain (0.87), and finger contracture (0.62); and the PSFS was responsive for those with carpal tunnel syndrome (0.65) and finger contracture (0.64).	false
+77ebaeff18cb8d545ce1dd15e93bacf081973a1f	The DASH was responsive for those with carpal tunnel syndrome (0.77), wrist pain (0.61), and tumor (0.55); the MHQ was responsive for those with carpal tunnel syndrome (1.04), wrist pain (0.87), and finger @PHENOTYPICFEATURE$ (0.62); and the PSFS was responsive for those with @DISEASE$ (0.65) and finger contracture (0.64).	false
+399ed80db9f9113ed2b23e795dda973a687cfb99	The DASH was responsive for those with @DISEASE$ (0.77), wrist pain (0.61), and tumor (0.55); the MHQ was responsive for those with carpal tunnel syndrome (1.04), wrist pain (0.87), and finger contracture (0.62); and the PSFS was responsive for those with carpal tunnel syndrome (0.65) and finger @PHENOTYPICFEATURE$ (0.64).	false
+26a865b851e13e1ab3bf74c02579351064c99825	The DASH was responsive for those with carpal tunnel syndrome (0.77), wrist pain (0.61), and @PHENOTYPICFEATURE$ (0.55); the MHQ was responsive for those with carpal tunnel syndrome (1.04), wrist pain (0.87), and finger contracture (0.62); and the PSFS was responsive for those with @DISEASE$ (0.65) and finger contracture (0.64).	false
+d0ae268ba551071c1af1e8872e08d0ef902cebe5	The DASH was responsive for those with carpal tunnel syndrome (0.77), wrist pain (0.61), and tumor (0.55); the MHQ was responsive for those with carpal tunnel syndrome (1.04), wrist pain (0.87), and finger contracture (0.62); and the PSFS was responsive for those with @DISEASE$ (0.65) and finger @PHENOTYPICFEATURE$ (0.64).	false
+423b50830becb59e71d01438ceb0bef0451311cb	The DASH was responsive for those with @DISEASE$ (0.77), wrist pain (0.61), and @PHENOTYPICFEATURE$ (0.55); the MHQ was responsive for those with carpal tunnel syndrome (1.04), wrist pain (0.87), and finger contracture (0.62); and the PSFS was responsive for those with carpal tunnel syndrome (0.65) and finger contracture (0.64).	false
+86ab77cbcbe2e2c27b420a5653028e907332caae	The DASH was responsive for those with carpal tunnel syndrome (0.77), wrist pain (0.61), and tumor (0.55); the MHQ was responsive for those with @DISEASE$ (1.04), wrist pain (0.87), and finger @PHENOTYPICFEATURE$ (0.62); and the PSFS was responsive for those with carpal tunnel syndrome (0.65) and finger contracture (0.64).	false
+1b80925c9e6ebfe4947632aa5a986b18a8138cd4	The DASH was responsive for those with carpal tunnel syndrome (0.77), wrist pain (0.61), and tumor (0.55); the MHQ was responsive for those with @DISEASE$ (1.04), wrist pain (0.87), and finger contracture (0.62); and the PSFS was responsive for those with carpal tunnel syndrome (0.65) and finger @PHENOTYPICFEATURE$ (0.64).	false
+7f46a43d807e31f96c357e93429a233d36509cd5	Cervical spine and atlantoaxial instability, thoracolumbar kyphosis, @PHENOTYPICFEATURE$ and osteonecrosis, genu valgum, and @DISEASE$ are frequently observed.	false
+06a0e860a799788fcd80cbd7783a5f8f7a73cca9	@DISEASE$ and radiographically evident basal joint @PHENOTYPICFEATURE$ of the thumb in elderly Koreans.	false
+49e69b43766659845079c18a2d2c80557686fdb6	@DISEASE$ coexists with basal joint @PHENOTYPICFEATURE$ in a large percentage of patients.	false
+97f0022a8241afaf6411866bf123d2c0e7274bb7	Cornelia de Lange syndrome (CdLS), also known as @DISEASE$, is a well-described multiple malformation syndrome typically involving @PHENOTYPICFEATURE$, developmental delay, specific facial features, major malformations (particularly the cardiac, gastrointestinal and musculoskeletal systems), and behavioral abnormalities.	false
+b6d546d2d8dac7c161dbc07b6c53ded1c5c6116c	@DISEASE$ (CdLS), also known as Brachmann-de Lange syndrome, is a well-described multiple malformation syndrome typically involving @PHENOTYPICFEATURE$, developmental delay, specific facial features, major malformations (particularly the cardiac, gastrointestinal and musculoskeletal systems), and behavioral abnormalities.	false
+cc29177da5d3b049b5034bb09fe1ab30fc7a0ec5	Letters: Fibroblasts from a patient with @DISEASE$ reveal @PHENOTYPICFEATURE$.	false
+1ee0e466772698a4611cf03623fb91fb4d271496	@PHENOTYPICFEATURE$ play a key role in the pathogenesis of @DISEASE$ (SSc).	false
+1ee0e466772698a4611cf03623fb91fb4d271496	@PHENOTYPICFEATURE$ play a key role in the pathogenesis of @DISEASE$ (SSc).	false
+98dbbb4a8ed936c9d2b0cf46da0c87adf2bb2487	@PHENOTYPICFEATURE$ represent a fundamental event in the pathogenesis of @DISEASE$.	false
+aec4be19e24cb1863721efe3ca8c2bbf584c7f8d	To determine the "hand anatomic index" (HAI--a quantitative measure of hand deformity) in @DISEASE$ (scleroderma) and to compare it with the other measures of @PHENOTYPICFEATURE$ and functional impairment.	false
+97e9a6efe27eede8a274388ad72cd33e04d6ab74	To determine the "hand anatomic index" (HAI--a quantitative measure of @PHENOTYPICFEATURE$) in @DISEASE$ (scleroderma) and to compare it with the other measures of hand deformity and functional impairment.	false
+9ecc8401cb7eeb0dbf8590c5542eccc9fcd05fff	@DISEASE$ (SSc) is a disease characterized by inflammation, @PHENOTYPICFEATURE$ and fibrosis.	false
+f2f81475a6410664d5816bd6a5b8dd9ec2d560d0	@PHENOTYPICFEATURE$ are one of the primary pathological components of @DISEASE$ (SSc).	false
+6abd468ab7986d73638b6e12f8f23cabc0dc9a36	@DISEASE$ is an autoimmune disease characterized by immunological and @PHENOTYPICFEATURE$.	false
+ec36a42298fab38a5bc5b15ce1eee9578ce5dede	@DISEASE$ (SSc) is an inflammatory disease characterized by @PHENOTYPICFEATURE$ and fibrosis.	false
+56268c59b5d0e7946973755a501b2f437c085666	@DISEASE$, or systemic scleroderma, is an autoimmune multisystemic disease associated with @PHENOTYPICFEATURE$, connective tissue sclerosis, atrophy, and autoimmune changes.	false
+94343d1eec7bcde9003b3507b462a78c79ef186a	Progressive systemic sclerosis, or @DISEASE$, is an autoimmune multisystemic disease associated with @PHENOTYPICFEATURE$, connective tissue sclerosis, atrophy, and autoimmune changes.	false
+68efc620f7198d0d387f3dfb668f4ddca0ec56db	Patients had several risk factors for low @DISEASE$, including @PHENOTYPICFEATURE$, delayed puberty, and iron overload.	false
+4bb9c7ae17fceb876b27426da627277ab31f65d2	@PHENOTYPICFEATURE$ in DMD/BMD carriers are progressive, as in patients with DMD/@DISEASE$.	false
+44f513e6bd83ffaaa23be52ca0e15271df6483d0	@PHENOTYPICFEATURE$ in DMD/@DISEASE$ carriers are progressive, as in patients with DMD/BMD.	false
+ed9e5407554208979cb8cbec5e73e420a9ec721d	We conclude that @PHENOTYPICFEATURE$ are the rule and not the exception in @DISEASE$ and are progressive over time.	false
+a86125f973ffe14a776b33e6c95734af8e20832e	@DISEASE$ with early manifestation of left @PHENOTYPICFEATURE$.	false
+476735defec9756326ee471ee371b5aa68528cf9	@PHENOTYPICFEATURE$ was meaningfully associated with low @DISEASE$ in postmenopausal women.	false
+6a656e3689598ed03a3253ec30a3ecc32abdcd81	The @PHENOTYPICFEATURE$-@DISEASE$ relationship is complex.	false
+490c501fb51408c566ed3524a762ab5f937a3774	The degree of cardiac involvement in @DISEASE$ varies greatly from no or hardly any cardiac abnormality to severe arrhythmias, dilatative cardiomyopathy and @PHENOTYPICFEATURE$ to heart transplantation or sudden cardiac death.	false
+b9bca1946f2c9e851788af032cee9831530b2894	The degree of cardiac involvement in @DISEASE$ varies greatly from no or hardly any @PHENOTYPICFEATURE$ to severe arrhythmias, dilatative cardiomyopathy and heart failure to heart transplantation or sudden cardiac death.	false
+f6fe943243aad16054a6d6ccd7cf0af4bbc441e5	Evolution of @PHENOTYPICFEATURE$ in @DISEASE$ over a 13-year period.	false
+7e9f34ca53e2694162a84957accbb70b5847e096	Randomised controlled trial on 17 prepubertal RD patients with @PHENOTYPICFEATURE$ and/or decreased @DISEASE$.	false
+bec4ebff55574e6977c6e8b2c06b060123b63b61	In conclusion, children with TM who were >10?years at HSCT are at risk for low @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8ff7586d297b2c8d436b36242e8851cc227062bf	Six factors (age under 40, female, clenching habit, history of extrinsic trauma, @PHENOTYPICFEATURE$, and family history of TMD) were tested for their relative risk in precipitating and perpetuating each @DISEASE$ symptom by the use of its confidence interval to define significance.	false
+10bc8a6a77ad5315dc94770957b32b3a3e1acb66	Six factors (age under 40, female, clenching habit, history of extrinsic trauma, @PHENOTYPICFEATURE$, and family history of @DISEASE$) were tested for their relative risk in precipitating and perpetuating each TMD symptom by the use of its confidence interval to define significance.	false
+548ce1ebc3900f5b6d4c86ca1cb2274c95e38c2e	Respondents who most often reported CAM treatment as "very helpful" for their @DISEASE$ were likely to be healthier (i.e., reporting higher levels of exercise and fewer @PHENOTYPICFEATURE$).	false
+8b5ad65a99dfb1fd875bd11d42189ea3bf34f255	This article reviews recent studies on epidemiology, sex differences, pediatric TMD, classification systems, comparisons to other chronic pain disorders of uncertain etiology, psychological assessment, depression, central modulation and hypervigilance, @PHENOTYPICFEATURE$, stress, and the management of @DISEASE$ by conservative physical interventions and cognitive behavioral therapy.	false
+ea0c73712515bb3a6af47d77d1fbc8ec9c6c67b1	This article reviews recent studies on epidemiology, sex differences, pediatric @DISEASE$, classification systems, comparisons to other chronic pain disorders of uncertain etiology, psychological assessment, depression, central modulation and hypervigilance, @PHENOTYPICFEATURE$, stress, and the management of TMD by conservative physical interventions and cognitive behavioral therapy.	false
+8d9ab4476dd7e8fd7f0b9d18b70b7878d7f8f601	Overall, the nonresponding @DISEASE$ and IBS groups did worse in the neuropsychologic assessment than the responding TMD group, with higher memory deficits, levels of depression and fatigue, more @PHENOTYPICFEATURE$, and lower energy levels.	false
+06b98b795c022ce82b5a89f06e35fa33c2b0e947	Overall, the nonresponding TMD and IBS groups did worse in the neuropsychologic assessment than the responding @DISEASE$ group, with higher memory deficits, levels of depression and fatigue, more @PHENOTYPICFEATURE$, and lower energy levels.	false
+800b3a40b6ec1500d2faddbc01cd494f911713c4	To investigate the prevalence of @PHENOTYPICFEATURE$ and psychologic distress in a population of Chinese patients with temporomandibular disorders (@DISEASE$) and whether sleep disturbance and psychologic distress are risk indicators for TMD.	false
+1073fda0bbca7217bb761c6e6a5b619c31d8cace	To investigate the prevalence of @PHENOTYPICFEATURE$ and psychologic distress in a population of Chinese patients with temporomandibular disorders (TMD) and whether sleep disturbance and psychologic distress are risk indicators for @DISEASE$.	false
+c5963ca8410193bc35174c64311669e9dcac9704	Compared to TMD subtype 1, TMD subtype 2 patients reported intermediate scores, and the most vulnerable @DISEASE$ subtype 3 had the poorest general health, most elevated depression, somatization, worry and @PHENOTYPICFEATURE$, and poor coping ability (P < .05).	false
+98ac13713824310d37b3ce611fedabf7a12736b9	Compared to @DISEASE$ subtype 1, TMD subtype 2 patients reported intermediate scores, and the most vulnerable TMD subtype 3 had the poorest general health, most elevated depression, somatization, worry and @PHENOTYPICFEATURE$, and poor coping ability (P < .05).	false
+1de90ef867ae6746df7260e5324c11feeb1962c0	After Bonferroni corrections, a significant correlation was detected between the @PHENOTYPICFEATURE$ parameter and mechanical detection threshold (MDT) in @DISEASE$ pain patients (? = 0.427, P < .001).	false
+be2f0acc6b6ec554ee35263b6701364cd89d49aa	Subjects with aural symptoms were significantly more likely to be female; to consider themselves in poor health; to smoke; or to have @DISEASE$, orofacial pain, headaches (temporal, occipital, or frontal), neck and shoulder pain, altered vision and sensation, @PHENOTYPICFEATURE$, loss of appetite, memory loss, or low energy.	false
+8a440bafb9aad16de309d49d9bb7dbd01a7e68c5	Subjects with aural symptoms were significantly more likely to be female; to consider themselves in poor health; to smoke; or to have @DISEASE$, orofacial pain, headaches (temporal, occipital, or frontal), neck and shoulder pain, altered vision and sensation, sleep disturbances, loss of appetite, @PHENOTYPICFEATURE$, or low energy.	false
+1454e8821277732d1a01ba01030b439dab13552b	This study supports the frequent comorbidity of reported @PHENOTYPICFEATURE$, perceived pain severity, and psychologic distress in patients with @DISEASE$.	false
+c445c5124fe34dcc9703f1a360490602baf8c207	These results show that reported poor sleep quality in @DISEASE$ is better explained by depressive symptoms than by PSG-assessed @PHENOTYPICFEATURE$ or myofascial pain.	false
+1efe39311fd7026443eebb1f2345961430672c9b	Pyridoxal phosphate-responsive @PHENOTYPICFEATURE$ in a patient with cerebral folate deficiency (CFD) and congenital @DISEASE$ (LAMM).	false
+8886acf7ec0192113b9b51296cefea6b34d1c688	We describe a constellation of distinctive @PHENOTYPICFEATURE$ in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (@DISEASE$) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively.	false
+7abbf7360c08959452bdf2574dc6adbe3b297082	Classification of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+44f194990c06b08f0c84d3dae2caa5e3b0ca5d38	A classification of @PHENOTYPICFEATURE$ in oral-facial-digital (@DISEASE$) syndromes is offered to help differentiate between the various types of OFD syndromes.	false
+a9e6e938c8bed15a627988516e53b639d43c438f	A classification of @PHENOTYPICFEATURE$ in oral-facial-digital (OFD) syndromes is offered to help differentiate between the various types of @DISEASE$ syndromes.	false
+4953c687117d313de32a9a6943983af80a823d22	We report what might be a constellation of unreported @PHENOTYPICFEATURE$ in a child with @DISEASE$ type II (Mohr syndrome).	false
+c845bc65179e3644dc8fa161c168178e8d9f8b4a	@DISEASE$ or Mohr syndrome is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-@PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+70b527e3c854c12fc2a3c29eff1755e20bc729f9	Similar to other inherited disorders associated to ciliary dysfunction @DISEASE$ type I patients display @PHENOTYPICFEATURE$.	false
+b0d5e7face431e1650a7566fae0a374f237d9760	In this study of three fatal cases of pheochromocytoma the small pulmonary arteries were narrowed by a variety of chronic and acute processes which included medial hypertrophy and fibrosis, endothelial proliferation and fibrosis, and endothelial cellular @PHENOTYPICFEATURE$; within the sinus node, atrioventricular (A-V) node and His bundle of all three cases there was focal degeneration and fibrosis similar to that also observed throughout the ventricular myocardium; and in addition to the focal narrowing of many small coronary arteries produced by medial hypertrophy, intimal fibrosis, and @DISEASE$, there were also focal aggregations of platelets clogging the lumen and occasionally mixed with a varying amount of fibrin.	false
+6c86ffd9d05f70acb3f9d4adb1d1961ba6358cab	Based on the case history and autopsy findings, death was attributed to a fatal @PHENOTYPICFEATURE$ due to cystic tumor of the atrioventricular node with @DISEASE$ of the coronary artery branches near the sinoatrial and atrioventricular nodes a possible contributing factor.	false
+f0fe8a3eb2c792afcc4de5de77ea9a61b8c6dce3	Cerebrotendineous @PHENOTYPICFEATURE$ (@DISEASE$) is an autosomal recessive disorder of bile acids synthesis.	false
+3e3efdda5726a020f6d51d5ac4495168b3342f1a	@DISEASE$ alleviated the disease development of AA rats according to the ameliorating arthritis score, paw @PHENOTYPICFEATURE$ and histopathology character.	false
+5a46522afcea70d529879b2fa7f0a42802d0520b	The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial hyperlipoproteinemia type IIa, III, and V, @DISEASE$, Wolman's disease, Tangier disease, Hand-Sch?ller-Christian disease, and normolipidemic cutaneous @PHENOTYPICFEATURE$, revealed lipid vacuoles, either membrane-bound or with no single unit membrane, cholesterol crystals, multivesicular or multilocular lipid bodies, myelin-like bodies, and ceroid granules (residual bodies).	false
+2b175c6bbf6bdc09287ac1084e747e08c84be97e	The anti-arthritic effects of @DISEASE$ were evaluated through the arthritis score, paw @PHENOTYPICFEATURE$ and histopathology changes of joints.	false
+e59e25c1bc6f3956ea281de8b6fba8b627a14d56	The first patient's will was to preserve her fetus from any related, even minimal, risk of XRT, and @DISEASE$ until safe delivery despite progression of GBM, accepting only surgery (tumor debulking and shunting of @PHENOTYPICFEATURE$).	false
+51e3d7b0bed998802727979e4b348fc9b8a0ea85	MMF was found to be more effective in reducing proteinuria, and improving hypoproteinemia, oliguria, hyperlipemia, and @PHENOTYPICFEATURE$ than @DISEASE$.	false
+53e41dba3a78353f068f66f582160d6af9a733f4	The anti-tumor interactions of JS-38 and cyclophosphamide (@DISEASE$) or 5-fluorouracil (5-Fu) were studied in a S180 @PHENOTYPICFEATURE$ model in ICR mice.	false
+0cc99edd14bd7b3386972c8af919f9f6e555fa3b	ATR-X is characterized by severe mental retardation, mild @DISEASE$, dysmorphic facies, and genital and @PHENOTYPICFEATURE$.	false
+5ed8a0de2564f0c6768bdf75dccf441ab9fa6a40	Here we report on a male infant presenting the typical pattern of @DISEASE$ including trigonocephaly, thrombocytopenia, @PHENOTYPICFEATURE$, urethral stenosis, and partial agenesis of the corpus callosum.	false
+7dd6f038aa2af32c3444d44a7160368022638cfb	To discuss the ophthalmic findings and their clinical significance in 10 new cases of @DISEASE$ (mental retardation, craniofacial anomalies, @PHENOTYPICFEATURE$, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.	false
+20b935462c06193a586f2902c00289d67f042c21	Our findings indicate that the short nose, otitis media, and @PHENOTYPICFEATURE$ in @DISEASE$ are likely because of hemizygosity for ETS1 and FLI1.	false
+8058042836c9c8300beb2f49e9db56b9019f5e53	@DISEASE$ (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and @PHENOTYPICFEATURE$, among other congenital anomalies.	false
+49c1678705b97eabec0ac609978dea3e61e1e9b9	We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of @DISEASE$: A @PHENOTYPICFEATURE$, dysmorphic features, developmental delay, and Paris-Trousseau syndrome.	false
+610703740bc8117b15279c1e0eaefc15030f7d54	This places alpha-tectorin within the genetic interval that contains both the human nonsyndromic autosomal dominant @PHENOTYPICFEATURE$ DFNA12 and the proximal limit of a subset of deletions within @DISEASE$.	false
+592e78689d704a5acf4d868581a3c4862432d3aa	Deletion of JAM-C, a candidate gene for @PHENOTYPICFEATURE$ in @DISEASE$, results in a normal cardiac phenotype in mice.	false
+1bef6b1243184b075ab829da8067b2679c313201	Clinical features of @DISEASE$ include facial dysmorphism, @PHENOTYPICFEATURE$, digit anomalies and mild to moderate psychomotor retardation.	false
+1cf48fdd012e08dc1769fe93fa3a12cfeb0b8883	@DISEASE$ (JS) is a rare genetic condition characterized by intellectual disability, hematologic abnormalities, and @PHENOTYPICFEATURE$.	false
+7b0275e421c884a430ab485621cee0ed060648c1	@DISEASE$, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, @PHENOTYPICFEATURE$, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations.	false
+4472dfde3c3e3efb098e10fa86133e96740b1f00	A novel de novo @PHENOTYPICFEATURE$ in Lamin A/C gene in @DISEASE$ patient with atrial paralysis.	false
+4f2cb157d4b00dada43ea84ef44696ecfe7fd8e3	We report a 22 year-old patient with @DISEASE$ which shows the typical features of the associated dilated cardiomyopathy, @PHENOTYPICFEATURE$, atrio-ventricular block, atrial standstill then atrial paralysis.	false
+657a08e77dd5b922291eb6df7430eb92f969c6af	Males with @DISEASE$ may survive longer with a ventricular pacemaker, but this may increase the likelihood that they will develop cardiomyopathy and @PHENOTYPICFEATURE$.	false
+d370a45a59b5f7b00b8022aa76b2d213d0bec45a	In this case report, we present an autopsy of a 31-year-old man with X-linked @DISEASE$ who developed only minimal skeletal muscle symptoms, and who died from @PHENOTYPICFEATURE$ despite undergoing a previous pacemaker implantation.	false
+4465cb9a5ff23143a310f1fce0e795ea4d67f443	Logistic regression analyses showed that @DISEASE$ pain was associated with sleep @PHENOTYPICFEATURE$ (OR?=?1?8 95% CI?=?1?34-2?34), awake bruxism (OR?=?2?1 95% CI?=?1?56-2?83), other parafunctional habits (OR?=?2?2 95% CI?=?1?17-4?08) and bodily pain complaints (OR?=?5?0 95% CI?=?3?48-7?28).	false
+7230b44e7fdafc1f60d59984b6e28eaec9837d7a	OHRQoL was described for each of the 8 RDC/@DISEASE$ diagnoses (Axis I) and the RDC/TMD Axis II measures (Graded Chronic Pain Scale [GCPS], jaw @PHENOTYPICFEATURE$ list, depression, and somatization).	false
+34435c922b43911b6845d884d98a31cdaf660e0b	The supervised exercise group also showed reductions in @DISEASE$ pain, neck @PHENOTYPICFEATURE$, mood disturbances and somatisation.	false
+b15484d07e6efb5bd0062060c35909b2c93295ad	One hundred and twenty-seven patients, diagnosed according to the RDC/TMD criteria as having myofascial pain with or without limited jaw opening only, were allocated to two groups according to their answers to the RDC/@DISEASE$ 'jaw @PHENOTYPICFEATURE$ checklist'.	false
+5922b76ea9394dd7e950d81072c39ae635f9feea	One hundred and twenty-seven patients, diagnosed according to the RDC/@DISEASE$ criteria as having myofascial pain with or without limited jaw opening only, were allocated to two groups according to their answers to the RDC/TMD 'jaw @PHENOTYPICFEATURE$ checklist'.	false
+c3739e4b588a803b0d1fc9169a52dca54d2cf1c4	Temporomandibular disorders (@DISEASE$) lead to masticatory muscle pain, jaw movement @PHENOTYPICFEATURE$ and limitation in mouth opening.	false
+b016e4c5fc66ab521843abbc24bfc4fe8d9cec7d	Raised @DISEASE$ pulse pressure measurements are associated with death and may be useful in detecting and monitoring risk of intracranial herniation and intracranial pressure in childhood @PHENOTYPICFEATURE$.	false
+ab5d4d922fda69bce741dd3390c1a97a039e89af	Data were collected by means of a clinical examination and a questionnaire about pain status which included a jaw @PHENOTYPICFEATURE$ checklist RDC/@DISEASE$ (Research Diagnostic Criteria for Temporomandibular Disorders).	false
+1c4b8214d9d89e1eb78e35e7593c677313dac8b8	If patients with @DISEASE$ have neck disability in addition to jaw @PHENOTYPICFEATURE$, treatment needs to focus on both areas because the improvement of one could have an influence on the other.	false
+5512c93f0827577e02f51e2d1b29ac384ab874da	There were 20 healthy controls and 20 subjects who had chronic @DISEASE$ and neck @PHENOTYPICFEATURE$.	false
+29c29616b179c1cb5ee7933cdbd39686f22ceba5	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck disability; Group III (n=13), volunteers with TMD and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without @DISEASE$.	false
+08632489b7fd1b419021da33d73d18059ac42091	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/@DISEASE$): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with TMD and without neck disability; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+7be48082a1983d96e32ecd380edfedbf4471ae46	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with TMD and without neck disability; and Group IV (n=13), volunteers with neck disability and without @DISEASE$.	false
+9817b5943d1fe58d0b82342f39666f556d62623c	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with @DISEASE$ and without neck disability; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+0d40233f3ed7f3870dccb6a613535ded138992cd	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with @DISEASE$ and neck disability; Group III (n=13), volunteers with TMD and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+9a0ab0cf370d6cae5aa8c4e182aed537c3d6d1b7	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck disability; Group III (n=13), volunteers with @DISEASE$ and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+b22872be9bce6e634b82afca0b5190191633b1e4	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/@DISEASE$): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck disability; Group III (n=13), volunteers with TMD and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+7f95d700b580d21a4df85a4587515648be8cbd01	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with @DISEASE$ and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with TMD and without neck disability; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+c7a6d8ea4319202fb993871a86e124e2bb828eb5	@DISEASE$ presenting as seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$.	false
+bf6c5862a746a836c5d5f277f89513bd3319a54a	[Scrotal @PHENOTYPICFEATURE$ as initial manifestation of squamous @DISEASE$].	false
+78bef4f6a8d2367f7885e119efab4953b0f58fbf	Two unrelated patients showing hyperkeratosis of relatively late onset have been found who developed @DISEASE$, while previously reported families with dominantly inherited esophageal cancer and with esophageal stricture, also showed late onset of @PHENOTYPICFEATURE$.	false
+bdba7cee7a8d7d75218e2be32b07580d566c6516	From the differential diagnostic point of view, the mucosa @PHENOTYPICFEATURE$ syndrome has to be distinguished from the Jadassohn-Lewandowsky syndrome and the Howel-Evans' syndrome, which is associated with @DISEASE$.	false
+38a5dff68545d5f1856d9ab9028358adfb2db371	@PHENOTYPICFEATURE$ in association with @DISEASE$ maps to chromosome 17q distal to the keratin gene cluster.	false
+7c314318e4c053e20f944c44184031168c7650bd	Among them there were 2 cases of @DISEASE$, and 2 cases of inflammatory ulcer with @PHENOTYPICFEATURE$, and one case of hiatal hernia.	false
+23fb13e636c90963dee8081ee0458829f15d0259	E6AP promotes the degradation of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor.	false
+72823202f13d1429cbf1cd7a8e93f23006acfcc9	In these patients, general medical conditions associated with catatonic disorder included dystonia, HIV encephalopathy, @DISEASE$, encephalitis, and @PHENOTYPICFEATURE$.	false
+b9bd490300ccd60a990be74a9fb01580b794e1be	Here, we report a case of @DISEASE$ in an AIDS patient who presented with a cerebellar @PHENOTYPICFEATURE$, caused by lesions in the cerebellar outflow tract.	false
+d0d26a4b18dce44abb37809186fea7a3611a9d4e	@DISEASE$ @PHENOTYPICFEATURE$ suppression and beyond: therapeutic implications.	false
+08a52f88a240d81b7f5d24d42750fb9201007f74	A CK2-dependent mechanism for degradation of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor.	false
+744e1adc812001672534eb498ff6b8647c0c8dff	More significantly, CK2 pharmacological inhibition enhances @DISEASE$ @PHENOTYPICFEATURE$ suppressive property.	false
+7a8d29a7e0d4929735409e6f0aa75103d7e8affd	Furthermore, CK2 pharmacological inhibition enhances the @DISEASE$ @PHENOTYPICFEATURE$-suppressive property in vivo.	false
+b497e4594b5f758b9274f54e1ec859758530fcf6	Restoring @DISEASE$ @PHENOTYPICFEATURE$ suppression to combat cancer.	false
+135d0ab52f2e3b0ee4ea4883b02dcaa638ef1602	JC virus is a member of the Polyomavirus family of DNA @PHENOTYPICFEATURE$ viruses and the causative agent of progressive multifocal leukoencephalopathy (@DISEASE$).	false
+1bfe960bd7c1ae702c433d8d826cfa2cb61d58d5	JC virus is a member of the Polyomavirus family of DNA @PHENOTYPICFEATURE$ viruses and the causative agent of @DISEASE$ (PML).	false
+a9c7fdba7c66903a1e15e0dd8a13d083314fb9f8	An increase in the real-world incidence of @DISEASE$ and @PHENOTYPICFEATURE$ cases is also concerning.	false
+c5e17a44daa4c82aec8a2141bbc584c5bddd21dd	A 29-year-old man with @DISEASE$ suddenly developed decreased semen volume, azoospermia, and facial @PHENOTYPICFEATURE$ after 11 years of successful human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) treatment.	false
+db7da217bf1d644a0ba971cb179e40b8ffa53234	Interactome analysis identified four PR-genes in signaling pathways whose dysregulation is correlated directly with pathogenesis: GRK5 and KLK6 in Alzheimer's disease; FGF14 in craniosynostosis, @PHENOTYPICFEATURE$ and FLT1 in @DISEASE$.	false
+b7d88852b5dfe54d347c82e6a31758fe1c8a53c0	This review suggests @DISEASE$ is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant @PHENOTYPICFEATURE$, ophthalmological involvement, and a high likelihood of premature death.	false
+0fb6b08a3d63a63571980fcfa77d2a7309704dce	Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar @PHENOTYPICFEATURE$ (SCA), and WWOX-related epileptic encephalopathy (@DISEASE$).	false
+2fc393dbad44530107979316cf0949923280217c	It may be associated with neurologic and @PHENOTYPICFEATURE$ in the @DISEASE$ (Schimmelpenning-Feuerstein-Mims).	false
+953fd4caa6eb2665fc7414ef96823d41b6a5cafe	In contrast with @DISEASE$, no cerebral, ocular or @PHENOTYPICFEATURE$ have hitherto been reported.	false
+f6e4bdc705197055df794d1865539cf3ca13b7c2	One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various @PHENOTYPICFEATURE$ incompatible with @DISEASE$, such as hyperhidrosis, muscular weakness and dysesthesia.	false
+63fe4f45b2d76a83e74beba260dcee9ea8fba442	A three-generation family presenting with ocular developmental abnormalities, including @DISEASE$ and coloboma, associated with @PHENOTYPICFEATURE$ and clinodactyly is presented.	false
+8dc29d50d2196d221e8e3ba10f177c87c15e6798	@PHENOTYPICFEATURE$ may be a development disturbance in which there are alterations in visual-spatial and visual-motor processing, while obsessive-compulsive disorder (@DISEASE$) is a psychiatric disease in which there are alterations in memory, executive function, and visual-spatial processing.	false
+2b97e34e923e633f262207fceccd25514367bdba	Examples are drawn from disorders such as attention-deficit / hyperactivity disorder (ADHD), depression, schizophrenia, obsessive-compulsive disorder (@DISEASE$), temporal lobe epilepsy, Alzheimer disease and developmental @PHENOTYPICFEATURE$.	false
+c33349c7dd98b01e8dc1cea4a39f608dd0bed822	Main clinical findings consisted of @DISEASE$ in knees and/or hips and/or elbows, @PHENOTYPICFEATURE$ and early osteoarthritis (OA).	false
+94dd60ca697cb31a4141f3ad530484d247401d7a	Familial @DISEASE$ associated with early osteoarthritis and @PHENOTYPICFEATURE$.	false
+f1c79485d37fbc335ab4389f609bbf58b210fa27	M?n?trier's disease, a rare hyperproliferative disorder of the stomach, is associated with chronic abdominal pain, @PHENOTYPICFEATURE$, weight loss, and edema, as well as an increased risk of @DISEASE$.	false
+2ca943e2099860094a39ef88f9097fa585914536	M?n?trier's disease, a rare hyperproliferative disorder of the stomach, is associated with chronic @PHENOTYPICFEATURE$, vomiting, weight loss, and edema, as well as an increased risk of @DISEASE$.	false
+786d1de0cf98387c3ce64de15830d23c42407397	A total of 99 patients with @DISEASE$ (94 adenocarcinoma, 2 adenosquamous cell carcinoma, 3 non-Hodgkin lymphoma) and 150 control cases with epigastric complaints such as nausea, vomiting, diarrhea, gastroesophageal reflux and @PHENOTYPICFEATURE$, were included to the study.	false
+76a1232791bcd5a840cd25821f1d753e7935caed	A total of 99 patients with @DISEASE$ (94 adenocarcinoma, 2 adenosquamous cell carcinoma, 3 non-Hodgkin lymphoma) and 150 control cases with epigastric complaints such as nausea, @PHENOTYPICFEATURE$, diarrhea, gastroesophageal reflux and abdominal pain, were included to the study.	false
+12f89b6d10036d3517da0161af31e0437d40066f	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder; genetic factors, H. pylori infection and various environmental factors contribute to its development.	false
+a6357f85142656a766df354d39a4310b6317f0f4	A 64-year-old woman with advanced @DISEASE$ with multiorgan metastatic disease presented with @PHENOTYPICFEATURE$.	false
+17efa5790c10f1e3f4e8eb429ec0efe8016e71dd	In Latin America, @DISEASE$ is a leading cancer, and countries in the region have some of the highest mortality rates worldwide, including Chile, @PHENOTYPICFEATURE$ Rica, and Colombia.	false
+61074cefff8a16d0ae157dcbd4884004e4db4d35	Local progression of advanced @DISEASE$ often manifests as bleeding, @PHENOTYPICFEATURE$/obstruction, or pain.	false
+5504640f6f1ecf0f3894019cee0c295a6e3aabc5	Capnocytophaga sputigena @PHENOTYPICFEATURE$ and bacteremia in a patient with diabetes and @DISEASE$.	false
+a3335fe4a95da67f6d6d7a0826cc641ee8fe8173	Previous studies have shown that RACK1 is associated with the progression of multiple cancer types, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+50b46c7ff02538d97bdacf3375be2e8f95408c7b	To clarify the characteristics of pulmonary metastases from gastric cancer, we investigated patients who underwent resection of metastatic solitary @PHENOTYPICFEATURE$ arising from @DISEASE$.	false
+b5dac9cef6fd55f68edbd7af512f2e1b56684fa8	To clarify the characteristics of pulmonary metastases from @DISEASE$, we investigated patients who underwent resection of metastatic solitary @PHENOTYPICFEATURE$ arising from gastric cancer.	false
+9e907fd469fbddd61910970bd0a629dbe39378a7	Recent studies mainly focused on its role in breast cancer and @PHENOTYPICFEATURE$; however, little is studied in @DISEASE$.	false
+d45f7bd360bcb54988a54517287208db7c8be91e	@DISEASE$ is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical @PHENOTYPICFEATURE$, and interphalangeal joint swellings.	false
+e791e7ec96cce7ad1d700f2e0b6676fc845de1bf	Among the study subjects, 112 (20%) had @PHENOTYPICFEATURE$ with no history of @DISEASE$ renal crisis (SRC) and 29 (5%) had a history of SRC at baseline.	false
+a2037183d56b4fb1b27e0b03f1d73011f1ad7dbd	The discovery of angiotensin converting enzyme inhibitors (ACEi) was a keystone for the understanding of the significance of the RAS since ACEi proved to be effective in controlling hypertension and @PHENOTYPICFEATURE$ and in preventing the development of the vascular injury of chronic diseases like @DISEASE$ and diabetes mellitus.	false
+fabba66eef841d87511f20f25fa0e0b93a32356b	@DISEASE$ is a disorder involving oral and facial tissues, with skin hardening, @PHENOTYPICFEATURE$, deep wrinkles, xerostomia, tongue rigidity, and microstomia.	false
+1144e87006660553b9e411e216b5b2f425b44f0b	Echocardiographic identification of @PHENOTYPICFEATURE$ in @DISEASE$ and related disorders.	false
+b978c486bd39a27e2ad94ea8b998fa12dc0a79f7	@DISEASE$ type A (MADA) is characterized by @PHENOTYPICFEATURE$, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy.	false
+403fb04bdbb99b1c3492e659626ac7f55bd9158f	@DISEASE$ type A (MADA) is a rare autosomal recessive disorder, characterized by @PHENOTYPICFEATURE$, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation.	false
+bfa42328f8a7ce58fa93e8dad2f7ebdabcadd8de	The absence of significant long-term differences in EDS improvements between the @DISEASE$ and the nCPAP groups with mild/moderate @PHENOTYPICFEATURE$ may indicate that the larger improvements in AHI values in the nCPAP group are not clinically relevant.	false
+f6a209ad4d7abb6313a4f18589f8f1265a62c547	To share our experiences treating patients with @PHENOTYPICFEATURE$-hypopnea syndrome (OSAHS) with titratable thermoplastic (TPD) and custom-made mandibular advancement devices (@DISEASE$) and to compare these devices in terms of objective improvement and cure and treatment success (improvement/cure plus adherence at 6 months).	false
+3003be8bbbe81ef9183165b6a0cf5092447ac528	We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, @DISEASE$, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Hajdu-Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.	false
+86759651627f9bf25a7f86653e3a5c72218c4b62	To evaluate the practical use of the mandibular advancement device (@DISEASE$) for treatment of sleep apnoea (SA) in patients with @PHENOTYPICFEATURE$ (CHF) over 1 year.	false
+a283c9b823ae36dd94a73da7fa48876966bd2c82	Two patients with mild variants of the same disorder (@DISEASE$:M) presented with neurologic abnormalities, acidotic coma, and/or @PHENOTYPICFEATURE$; they primarily excreted ethylmalonate and variable amounts of adipate.	false
+de4084439e7be7443c8564a1050204119663151a	We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or @DISEASE$), such as aged appearance, @PHENOTYPICFEATURE$, decreased subcutaneous fat, thin limbs, and stiff joints.	false
+bd8c008286ecf8387f2793a06496332ed741850c	@DISEASE$ type A (MADA) is a rare laminopathy characterized by @PHENOTYPICFEATURE$, craniofacial anomalies, bone resorption at specific sites including clavicles, phalanges and mandibula, mottled cutaneous pigmentation, skin rigidity, partial lipodystrophy, and insulin resistance.	false
+ec18dc14fc3c4cca9a244d05c890ce6a0d29fb32	The odds ratios for success with @DISEASE$ therapy are 3 for women over men, 14.9 for mild @PHENOTYPICFEATURE$, 5.42 for moderate obstructive sleep apnea if severe obstructive sleep apnea is assigned an odds ratio of 1.	false
+3c784bd49f08290b66d262f3dbbb6b19f11a8466	One in seven evaluated children had a Zika-associated birth defect, a @PHENOTYPICFEATURE$ possibly associated with congenital @DISEASE$, or both reported to the USZPIR.	false
+8dc34a0805906dc402a66f29a6e3bfedfd3244bd	We reviewed the surveillance data published by the Brazilian Ministry of Health to assess trends of microcephaly and @PHENOTYPICFEATURE$ suggestive of congenital infection, as well as @DISEASE$ in Brazil as a whole and its various regions.	false
+72b19f760b3cab272c472a6a0b97ae1e2aafb430	While clinical manifestations of the infection in adult cases are not severe and disease is not associated with high mortality rates, @DISEASE$ can have an impact on fetal development and lead to severe @PHENOTYPICFEATURE$.	false
+d2a6f58b54d92830af8b496ead67773799cb28bb	@DISEASE$ during pregnancy causes serious birth defects and might be associated with @PHENOTYPICFEATURE$ in children.	false
+aeebb2de7e7ccc231bd21e9cc484da28e85f195d	To describe the visual impairment associated with ocular and @PHENOTYPICFEATURE$ in a cohort of children with congenital @DISEASE$ syndrome (CZS).	false
+88e4870d37627e3522436d18a1fda9c59ab73c4b	Among evaluated children, 6% had at least one Zika-associated birth defect identified, 9% had at least one @PHENOTYPICFEATURE$ possibly associated with congenital @DISEASE$ identified, and 1% had both.	false
+cc6d6476bdcf40baef7d732ae395def58723e036	Although the Zika epidemic seems to be diminishing, continued monitoring and surveillance of reported microcephaly and @PHENOTYPICFEATURE$ cases is essential, and investigation efforts need to be vastly improved, as some states still reported high incidences of @DISEASE$ disease in the first half of 2016.	false
+e51b1ea5e6c882d466f42d3c0cbb85d59ade78bf	Receipt of reported follow-up care was assessed, and data were reviewed to identify Zika-associated birth defects and @PHENOTYPICFEATURE$ possibly associated with congenital @DISEASE$.	false
+e1ca2a20eba36aec943119e66fe07be113a43646	@DISEASE$ during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and @PHENOTYPICFEATURE$ (1).	false
+64a7e688cc3b2bd6516f63bb6cd014023f587d5a	Zika virus (ZIKV) is a neuropathic virus that causes serious @PHENOTYPICFEATURE$ such as Guillain-Barre syndrome in adults and congenital @DISEASE$ syndrome (CZS) in fetuses, which makes it an important concern for global human health.	false
+912fefc5b6c91be0e9ffc340affe8b4bf0e41031	@PHENOTYPICFEATURE$ in the Cln3Deltaex7/8 mouse model for @DISEASE$.	false
+0bb511bf70d92830551e1b6ff7ecc8767db42060	Treatment with intravenous ferric carboxymaltose (@DISEASE$) has been shown to improve symptoms, functional capacity, and quality of life in patients with @PHENOTYPICFEATURE$ and iron deficiency.	false
+a9654d1725e6cbe8e5372bcd968ca477d3ab4c2b	Treatment of iron deficiency (ID) in patients with @PHENOTYPICFEATURE$ (HF) with intravenous iron substitution [ferric carboxymaltose (@DISEASE$)] has previously shown significant improvements in exercise capacity, New York Heart Association (NYHA) functional class, quality of life, and reduction of hospitalization.	false
+d6b6627ce438fe4b4bb7ba818d5e12ae96cb24f0	Ferric carboxymaltose (@DISEASE$, Ferinject) was effective and well tolerated in the treatment of iron-deficiency anemia (IDA) in nine, Phase III, randomized, controlled, multicenter trials in a diverse range of indications, including patients with inflammatory bowel disease (IBD), post-partum anemia (PPA) or abnormal uterine bleeding (AUB), @PHENOTYPICFEATURE$ (CHF), non-dialysis-dependent chronic kidney disease (CKD) and those undergoing hemodialysis (HD).	false
+7466fef29e7b428a9795d05a8c21ff5aa98d28ef	@PHENOTYPICFEATURE$ and polyuria have a long association with @DISEASE$.	false
+3f8d0f2f9b54afaebe3cbf129c2455e4365da64f	Hyperprolactinemia and glucose and lipid @PHENOTYPICFEATURE$ are often found in patients with @DISEASE$ and are generally considered secondary to the use of antipsychotic drugs.	false
+27fffc9d151b451478c445de062c8e3f0603c1df	For example, @PHENOTYPICFEATURE$ abnormalities have been observed in both medicated and unmedicated schizophrenia patients, in individuals with schizotypal personality disorder, and sometimes in siblings of @DISEASE$ patients.	false
+39a9a78e16916c866fbfc3f73db348b55ae787ac	For example, @PHENOTYPICFEATURE$ abnormalities have been observed in both medicated and unmedicated @DISEASE$ patients, in individuals with schizotypal personality disorder, and sometimes in siblings of schizophrenia patients.	false
+4f980b4ad5f5a421ce5118055d4849820414787e	@PHENOTYPICFEATURE$ and diabetes in patients with @DISEASE$ or schizoaffective disorders.	false
+273f270999d2af775053a3b92c694a6372e83da8	Paternal age and sporadic @DISEASE$: evidence for de novo @PHENOTYPICFEATURE$.	false
+ce6a813797abc5d9a194102ee893f16ed0f02b14	Asthma, @PHENOTYPICFEATURE$, sleeplessness and @DISEASE$ syndrome.	false
+f0108ea838e95cbd1428b0c6f153b953b2de65fc	@PHENOTYPICFEATURE$ are frequent in patients with @DISEASE$ and bipolar disorder (BD), leading to a high prevalence of diabetes and metabolic syndrome in this population.	false
+c176474cf2cf1c3042903414f87b7d07425e6652	Increased left prefrontal activation during staring/@PHENOTYPICFEATURE$ episodes in a patient with resistant catatonic @DISEASE$: a near infrared spectroscopy study.	false
+88c951d513a8a3c7f95152d736e827ba5e55d2a3	Mn-superoxide dismutase activity is associated with orofacial @PHENOTYPICFEATURE$ in @DISEASE$ patients with tardive dyskinesia.	false
+98404dde80f916a55883c55b90ffa230d99bdb7d	@PHENOTYPICFEATURE$ and diabetes in patients with @DISEASE$ or schizoaffective disorders: response to Cohen et al.	false
+5a017f177e00c3de662539ecf0a8ba95717f53c2	@DISEASE$ type IIB with @PHENOTYPICFEATURE$.	false
+1d0e36ce7c339b374d60cab05464a561494a6164	Sixteen subjects affected by @DISEASE$ (11 males and five females, ranging from 5 to 15 years of age [mean age, 9 years 11 months]) were followed for periods of 9 months to 5 years 9 months, and were studied during three to five prolonged hospitalizations for total periods of 2-9 months with a veiw to examining the distribution of epileptic seizures during four states of vigilance, evaluated from a behavioral point of view: sleep, @PHENOTYPICFEATURE$, inactive wakefulness, and active wakefulness.	false
+3d8356e12eedaf4ec0eda42ffe2fbeac71db8933	Effective management of @DISEASE$ requires a global approach to care that not only encompasses seizure control, but also the management of co-morbidities associated with the condition, such as cognitive and behavioural problems, @PHENOTYPICFEATURE$ and physical disability, together with the specific educational and psychosocial needs of the individual.	false
+6136f5d2f7c22a35a8e00595243760057d9480b7	[@DISEASE$ associated with severe cerebellar dysfunction and @PHENOTYPICFEATURE$].	false
+d3c48055d310903d468a369c40684c98720d97a0	We reported a 33-year-old man with @DISEASE$ of 26 years' duration associated with unusual symptom complexes such as severe cerebellar ataxia and dysarthria, and @PHENOTYPICFEATURE$.	false
+4c8da7ea689e887eed3a71d7008e92961c39f71b	To our knowledge there were no previously reported cases of @DISEASE$ associated with such cerebellar dysfunctions and @PHENOTYPICFEATURE$.	false
+b4decf8cbcb0edd00084111e8c4d6d9bbf243b53	Although the levels of only one or two amino acids in tonic-clonic seizure, focal seizure and @PHENOTYPICFEATURE$ were higher or lower than those of the controls, the levels of 8 amino acids in infantile spasms were lower and those of 10 amino acids in @DISEASE$ were generally higher compared to the controls.	false
+c299fa17089794f2ee846a1042ad7d68deb5d1f2	Five patients were diagnosed with non-specific epileptic encephalopathy, two with epilepsy with myoclonic-atonic seizures, two with @DISEASE$, two with @PHENOTYPICFEATURE$ plus, and one with West syndrome.	false
+00ce1d5f62d3bd66dafde5d666620e7fd17c5003	A review is provided for the treatment of radiculitis, failed back surgery syndrome, @DISEASE$, @PHENOTYPICFEATURE$, pelvic pain, occipital neuralgia, angina, ischemic extremity pain, and spasticity.	false
+a9a28ad5b080a0377bfee2660f9d5e25b23c2ccf	Post-discectomy nerve root fibrosis, @DISEASE$, @PHENOTYPICFEATURE$ and central spinal cord pain syndromes were the most common diagnoses.	false
+9c551faa293ff7b9864e374b3f162dc89a44a47c	In @DISEASE$, this technique results in improved local and nodal staging, in improved separation of transurethral granulation tissue and @PHENOTYPICFEATURE$ from malignant tumor, and in improved evaluation of the effect of chemotherapy.	false
+68e4e0e7ebb0c06508b117fa37c9b53bd66d9b38	The use of pioglitazone has been associated with an increased risk of @DISEASE$, @PHENOTYPICFEATURE$, heart failure, weight gain, and distal bone fractures in postmenopausal women.	false
+9dea5730b3338648f4d682a117661706ba038029	MeSH terms evaluated were; bladder augmentations, enterocystoplasty, gastrocystoplasty, spina bifida, @PHENOTYPICFEATURE$, myelodysplasia, neural tube defects, posterior urethral valves and bladder exstrophy were cross referenced with the terms, @DISEASE$ and urinary bladder neoplasm.	false
+b5453bcad37e653a65871c8c24d771abb29ab793	A 74-year-old female patient with bladder cancer presented with @PHENOTYPICFEATURE$ in the right lower limb in a follow-up at the outpatient department.She was diagnosed with deep vein thrombosis in the right lower limb, and warfarin treatment was started.Subsequent gemcitabine and cisplatin combination(GC)therapy for prevention of @DISEASE$ recurrence prolonged the PT-INR to an immeasurable level on day 6 of therapy.Thus, warfarin was immediately discontinued and a single dose of menatetrenone was administered.Subsequently, the PT-INR recovered to 1.36 one day after discontinuation of warfarin.In the second course of GC therapy, warfarin was discontinued before administration of the anticancer drugs, and there was no change in the PT-INR.The abnormally high PT-INR observed in the early stage after GC therapy in this case shows that it is important to monitor blood coagulation from immediately after administration of GC therapy in a patient under treatment with warfarin.	false
+3e5278c6332b6f81cb28b1a5386e46055fee1241	A 74-year-old female patient with @DISEASE$ presented with @PHENOTYPICFEATURE$ in the right lower limb in a follow-up at the outpatient department.She was diagnosed with deep vein thrombosis in the right lower limb, and warfarin treatment was started.Subsequent gemcitabine and cisplatin combination(GC)therapy for prevention of bladder cancer recurrence prolonged the PT-INR to an immeasurable level on day 6 of therapy.Thus, warfarin was immediately discontinued and a single dose of menatetrenone was administered.Subsequently, the PT-INR recovered to 1.36 one day after discontinuation of warfarin.In the second course of GC therapy, warfarin was discontinued before administration of the anticancer drugs, and there was no change in the PT-INR.The abnormally high PT-INR observed in the early stage after GC therapy in this case shows that it is important to monitor blood coagulation from immediately after administration of GC therapy in a patient under treatment with warfarin.	false
+019d07c0b2687e75ee5ec0f1fa6b1252131e2ce1	Combined administration of fucoidan ameliorates tumor and chemotherapy-induced @PHENOTYPICFEATURE$ in @DISEASE$-bearing mice.	false
+e37c6c4e366c050f0175643f84745b894c4ec410	Compared with mice with @DISEASE$ treated with chemotherapy alone (TGC group), those treated with a combination of low molecular weight fucoidan (LMWF) and chemotherapy drugs such as gemcitabine and cisplatin (TGCF) showed a significant reduction of body weight loss, @PHENOTYPICFEATURE$, and intestinal injury and dysfunction.	false
+7e740ffdc0ca98937dd1b1852239b9c7264452b2	However, TZDs have side effects, such as @PHENOTYPICFEATURE$, congestive heart failure, and bone fracture, and may increase @DISEASE$ risk.	false
+4f56fcaead0282232b9f02091e7ab0729d3848ae	@PHENOTYPICFEATURE$ (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and @DISEASE$ liver failure.	false
+ae9d48685364fa9719eeae49e2822e92486bdb95	Persistent @PHENOTYPICFEATURE$, with the attendant risk of nephrocalcinosis and @DISEASE$ renal failure, is common in hypoparathyroid patients, especially those with activating mutations of the calcium-sensing receptor (CASR) gene, being treated with oral calcium and calcitriol.	false
+1cd28e681ef93c89e3467257cf8a433aeecce6f7	@PHENOTYPICFEATURE$ (BA) causes progressive fibrosis and obliteration of the biliary tree, resulting in bile stasis and @DISEASE$ liver dysfunction.	false
+f854dc32b8017916b92bb93dc591d8569a02de08	@PHENOTYPICFEATURE$ (BA) is a neonatal obstructive biliary tract disease in which the intrahepatic and extrahepatic bile ducts are obstructed and can lead to congenital biliary atresia of cholestatic cirrhosis and @DISEASE$ liver failure.	false
+3d2c1e2823ec364fd0f33b99606b6732751cf839	Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, @PHENOTYPICFEATURE$, nephrocalcinosis, kidney stones, and @DISEASE$ renal failure.	false
+8ed421fccf7937fa5220fe9e5fb17cb9e215a25e	This paper reports the case of a 55-year-old female patient diagnosed with @DISEASE$ with acute progressive renal impairment after developing lower limb @PHENOTYPICFEATURE$.	false
+04d073161c12a1b142c37fc7572873161ce0b684	The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Sch?nberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-@DISEASE$), dysosteosclerosis, @PHENOTYPICFEATURE$ (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia.	false
+c47796343e377af1d677a0b03bfa718c05398266	A microdissection study of the @PHENOTYPICFEATURE$ in a patient with an acoustic @DISEASE$ and "polycystic" kidneys and liver.	false
+c5ea2eeaba1836936d24ca93ff4645cac9c6e7d0	We report a case of intracranial myxoid @DISEASE$ in a 19-year-old female patient manifested as an intense and progressive cephalea, followed by nausea, @PHENOTYPICFEATURE$, photophobia, and phonophobia.	false
+df25e5fc888bee5213168acbab7d3c41267423b0	An uncommon case of gastric @DISEASE$ is described: it was an incidental finding during assessment for @PHENOTYPICFEATURE$, possibly due to pancreatitis, in a 58 year old man, with no sign of von Recklinghausen's disease.	false
+1963cea4abed5abd972487f4f0b4da2d30055677	The following tumors did not contain somatostatin receptors: prostate carcinomas (n = 17); prostate hyperplasia (n = 2); ovarian carcinomas (n = 6); endometrial carcinomas (n = 4); primary liver cell carcinomas (n = 3); pheochromocytomas (n = 3); aldosteronomas (n = 2); medullary thyroid carcinomas (n = 2); one adrenocorticotropic hormone-secreting pulmonary carcinoid; one astrocytoma; one @DISEASE$; one @PHENOTYPICFEATURE$; and one bladder tumor.	false
+8cb951a76ef1dd31fe6c2f896f9c041fe8d6ddcc	The lesion was completely resected with the periosteum.Gingival @DISEASE$ in NF-1 may be associated with osseous and @PHENOTYPICFEATURE$ and can be mistaken for periodontitis.	false
+45473a7b72774173689c13cf8b195ee32ac49375	We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic @DISEASE$ without febrile seizures and @PHENOTYPICFEATURE$; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy.	false
+33c0537bbca6ebd6b5ee4f5a54b1feffa3df3e1a	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, @DISEASE$, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+af3481d1034ee8aab1b1dad764168e1edfda2921	Nager's syndrome, which has the facial features of @DISEASE$, preaxial upper limb defects, @PHENOTYPICFEATURE$, and frequently subnormal intelligence, is very rare.	false
+fe877d9776a335bacbce1498c63631f62b2cc8d8	Here, we describe a patient with @DISEASE$ without characteristic congenital @PHENOTYPICFEATURE$.	false
+d63162b853a1fd4b708de5f12cf8dc9fc4d9d756	Despite the unique combination of @PHENOTYPICFEATURE$ and ectopic ossification, the first diagnosis in patients with @DISEASE$ was often wrong and usually delayed after ectopic ossification began (mean 2.7 years, range 0-14).	false
+f67e2cebd5e213fd3015399198e1cf864f7305d4	To evaluate the degree of possible peripheral nervous system (PNS) involvement in addition to CNS manifestations in @DISEASE$, a free sialic acid storage disorder leading to @PHENOTYPICFEATURE$ with a wide clinical variation.	false
+166e074b8b8e011aea2cc3303296d59af93278ba	The diagnosis of cerebral @PHENOTYPICFEATURE$ (@DISEASE$) was made based on biological and clinical features such as an excessive natriuresis (143 mmol/l) resulting in hyponatremia (130 mmol/l) and an osmolarity higher in urine than in blood.	false
+b23b62b34c85858bfac2115238197d9ee618a2fb	Marker and quantitative PCR analyses were employed for carrier diagnosis in a family of a @PHENOTYPICFEATURE$ @DISEASE$ patient with a total deletion of the F9 gene and neighbor genes.	false
+fa1e6ca75035a89841ed73961bf28b7cc7c685bc	These observations and the well-established knowledge that the genes for Deutan and Protan colorblindness are closely linked to G6PD, but segregate independently of @DISEASE$, suggest that the fragile site associated with this type of X-linked @PHENOTYPICFEATURE$ occurs in a region prone to high frequency of meiotic recombination.	false
+ee1f249fea15bdb699d23e2a62c7c8af57480c78	Microcephaly-capillary malformation syndrome (@DISEASE$) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe @PHENOTYPICFEATURE$, early-onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions.	false
+119821fae7e48148d0266acaa7e6d8994bbb1574	@DISEASE$ (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe @PHENOTYPICFEATURE$, early-onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions.	false
+f6cb5d9e17b192a14b38c18f0d4a4020d4c92d67	@DISEASE$ (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+a6870d274d5ab5906ba379d6becec918a9342210	Bardet-Biedl syndrome (@DISEASE$) is a heterogeneous disorder characterized by obesity, retinopathy, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+91e069c8257c5ed14ac18b2170d07b1bbfbf884d	Renal anomalies are common in patients with Bardet-Biedl syndrome (@DISEASE$), a @PHENOTYPICFEATURE$ ciliopathy with multi-systemic features.	false
+b9e52a005829a4a92085efbca0f4b8fa8c734f62	Renal anomalies are common in patients with @DISEASE$ (BBS), a @PHENOTYPICFEATURE$ ciliopathy with multi-systemic features.	false
+932f273389beb6b87a61fdef7848590d5911078b	Cystic kidney dysplasia and @PHENOTYPICFEATURE$ in 3 sibs with @DISEASE$.	false
+ccc705dde0e3df4806d1165238c7cbb98dbcbfe9	A case diagnosed as @DISEASE$ with @PHENOTYPICFEATURE$ and hypertension has been presented here.	false
+1b4d968884e6170d7c6a0060574d58d746598e4b	Bardet-Biedl syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by retinopathy, obesity, and @PHENOTYPICFEATURE$.	false
+9a3dfb5e3361a3aab7389c110b35ce282257708d	@DISEASE$ (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and @PHENOTYPICFEATURE$.	false
+316466fef75a8c597faf2d0b3fdae73f8579bf65	@DISEASE$, associated with multiple @PHENOTYPICFEATURE$.	false
+de90db5db34efc672dfb848cc539b0d80b91e863	@DISEASE$ (BBS) is a heterogeneous genetic disorder that comprises numerous features, including @PHENOTYPICFEATURE$ disease.	false
+a0da2884922ac0de474905d753b7f5f31a025e8d	Bardet-Biedl syndrome (@DISEASE$) is a heterogeneous genetic disorder that comprises numerous features, including @PHENOTYPICFEATURE$ disease.	false
+57b516975cd877875ee1181109f815a2ba13cb1f	We report a unique case of @DISEASE$ in a 13-year old girl of African-American descent who presented with retinitis pigmentosa, obesity, @PHENOTYPICFEATURE$, learning disabilities, precocious puberty, hypertension, renal cysts, and Hirschprung disease.	false
+3d2f8d2e74dc703c1aba660e3bceac35324e4b96	We report a unique case of @DISEASE$ in a 13-year old girl of African-American descent who presented with retinitis pigmentosa, obesity, polydactyly, learning disabilities, precocious puberty, hypertension, @PHENOTYPICFEATURE$, and Hirschprung disease.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+d09cf8472abafcdc6159b6b2cd867ba5f75f0f58	Recurrent insertional @PHENOTYPICFEATURE$ and situs inversus in a @DISEASE$ family.	false
+0f3a46c2e980c301030cf4a9df83f2471416687e	Familial @DISEASE$ associated with @PHENOTYPICFEATURE$ of the skin.	false
+d7bef31efc94f5a7d5c016c96a2b1ab2be3f8909	@DISEASE$ are extremely rare in association with complex @PHENOTYPICFEATURE$, and their management can be challenging.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+e202571dd565f28d4969b9281fca63f05692f8e9	Interstitial @PHENOTYPICFEATURE$ in acute @DISEASE$.	false
+25d55a4c154967fe41847e9938624c3a47fa88ed	None of the patients presented with coma, @PHENOTYPICFEATURE$, hypoglycaemia or algid @DISEASE$.	false
+61140f6a2932c59614b19558ff818850e0d69da4	In Nigerian children, hypocalcaemia and @PHENOTYPICFEATURE$ are associated with @DISEASE$.	false
+517626ee0b2832638144886b5b8f223bedc9d178	[Tertiary @DISEASE$ with acute @PHENOTYPICFEATURE$ in a Turkish child].	false
+2bfdfb422d260d9f7adab840a8c644427a207443	Despite @DISEASE$-associated haemolysis, @PHENOTYPICFEATURE$ is also common, but can be severe.(ABSTRACT	false
+b20cff4bef5048f92f359363310d34460573bda6	Paraffin-embedded lung tissues from @DISEASE$ patients were divided into two groups: those with pulmonary edema (PE) and those without @PHENOTYPICFEATURE$ (non-PE).	false
+729bd08f06e82eff7e2350383ef8c150b74fb845	Paraffin-embedded lung tissues from @DISEASE$ patients were divided into two groups: those with @PHENOTYPICFEATURE$ (PE) and those without pulmonary edema (non-PE).	false
+d4b69f6cd79d190e6f7f0610559f34ce3649d66c	[@PHENOTYPICFEATURE$ in pernicious @DISEASE$.	false
+063841cf4876eaf5092082310722071966ca5129	Hypocalcemia, hypomagnesemia and @PHENOTYPICFEATURE$ are common features of both @DISEASE$ and leptospirosis.	false
+b6ad4e9b9fc57778c5a74885d8ef703dd7f56b8c	[Fatal @PHENOTYPICFEATURE$ in a pernicious @DISEASE$ attack].	false
+adcdae018551194150bd7ed55c05584fe55ecd42	All SPX patients had IL, a higher prevalence of bone marrow @PHENOTYPICFEATURE$ (p?=?0.02), and lower @DISEASE$ (p?=?0.03) than non-SPX patients.	false
+b050ca2c0f00353ed40815c3bdba9fcea584b7f8	The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, @PHENOTYPICFEATURE$, a narrow palate, and @DISEASE$.	false
+21c968fff529a360f85179b06d73e0c7ac40b37a	The proband postnatally displayed mental and @PHENOTYPICFEATURE$, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and @DISEASE$.	false
+7e1ddad939e7880b7e385bdc4d909d51905da9f8	We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, @PHENOTYPICFEATURE$, short neck, @DISEASE$, and bilateral simian creases without limb anomalies.	false
+f25984b2d05a3922e1dab3ea54bb35d891b19cdb	We report on a 2.5-month-old boy with @PHENOTYPICFEATURE$, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, @DISEASE$, and bilateral simian creases without limb anomalies.	false
+6d626e5d84325c7001d91918aa8c77c5f6731bbb	We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, @DISEASE$, subaortic stenosis, @PHENOTYPICFEATURE$, and hearing impairment.	false
+fa3f8f4760fc81bb98171e89dfa780804e2a9d00	We report the case of a 12-year-old patient with some of the abovementioned characteristics: @PHENOTYPICFEATURE$, macroglossia, lentigines, hypospadias, @DISEASE$, subaortic stenosis, growth retardation, and hearing impairment.	false
+828e6ab273987090f4314622f8b78fb8eed7d8ba	We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, @DISEASE$, subaortic stenosis, growth retardation, and @PHENOTYPICFEATURE$.	false
+f1718b50277b2af1b9a1a37b1dbe479f00348077	While some clinical problems such as intestinal malrotation, @DISEASE$, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects (truncus arteriosus, pulmonary atresia, atrial septal defect, and/or ventricular septal defect), brachydactyly, @PHENOTYPICFEATURE$, broad nasal bridge, and thin upper lips.	false
+1846b1f33af05def10be6a08f3775117eee8d8c1	While some clinical problems such as intestinal malrotation, @DISEASE$, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects (truncus arteriosus, pulmonary atresia, atrial septal defect, and/or ventricular septal defect), brachydactyly, hypertelorism, broad nasal bridge, and @PHENOTYPICFEATURE$.	false
+897775b1bcc223cf48824ea282d0a9fd095c3ddd	While some clinical problems such as intestinal malrotation, @DISEASE$, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects (@PHENOTYPICFEATURE$, pulmonary atresia, atrial septal defect, and/or ventricular septal defect), brachydactyly, hypertelorism, broad nasal bridge, and thin upper lips.	false
+e44596561b19e0ce0b83f22783121f4d6ad6b370	While some clinical problems such as intestinal malrotation, @DISEASE$, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, @PHENOTYPICFEATURE$ (truncus arteriosus, pulmonary atresia, atrial septal defect, and/or ventricular septal defect), brachydactyly, hypertelorism, broad nasal bridge, and thin upper lips.	false
+2b90c1c5d60e25fa7aa982b1d0a1437764a2bb5a	Patients with Noonan Syndrome are characterized by a typical face, growth retardation, @PHENOTYPICFEATURE$, learning disabilities and @DISEASE$.	false
+e1753b2ccca594ebdcdfa9071796f7413b87ab01	Patients with Noonan Syndrome are characterized by a typical face, @PHENOTYPICFEATURE$, congenital heart defects, learning disabilities and @DISEASE$.	false
+5938b02342c579024e8911aa8ce2163c3bea60a6	X-linked recessive microencephaly, microphthalmia with @PHENOTYPICFEATURE$, spastic quadriplesia, hypospadias and @DISEASE$.	false
+86ddbbf4c062b0c7d5310c71e80b15a4475dde83	A 1730-g male infant, born at 37 weeks gestation, had multiple congenital anomalies, consisting of microcephaly, @PHENOTYPICFEATURE$, bilateral cleft lip and palate, micrognathia, low-set ears, and @DISEASE$.	false
+3bf767c9a11c1fe9b8b8b0467dcd70d6149fcad1	A 1730-g male infant, born at 37 weeks gestation, had multiple congenital anomalies, consisting of microcephaly, hypertelorism, bilateral cleft lip and palate, @PHENOTYPICFEATURE$, low-set ears, and @DISEASE$.	false
+5d27c58555008e1ba31f847ff0b70ebd82b0b6c5	The typical phenotype is described considering the characteristic clinical features as: hypotonia, @PHENOTYPICFEATURE$, short and beaked nose, flat nasal bridge, thin upper lip, micrognathia, low set and dysmorphic ears, clinodactyly finger V and @DISEASE$.	false
+10d4bd7f58414e6311fc486541e7ef8a3d5ecb5a	The typical phenotype is described considering the characteristic clinical features as: hypotonia, hypertelorism, short and beaked nose, flat nasal bridge, thin upper lip, @PHENOTYPICFEATURE$, low set and dysmorphic ears, clinodactyly finger V and @DISEASE$.	false
+899589b7647f461f6771d5433a7bf1ae7903a6c4	Manifestations include low birth weight, @PHENOTYPICFEATURE$, bilateral cleft lip and palate, @DISEASE$, and a complex congenital heart defect.	false
+27fc361c877e4e9f45f7e92d5c16d834497facc2	Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, @DISEASE$, and a complex @PHENOTYPICFEATURE$.	false
+1c8cde19b3bd6f920ac72894cf1aca4b64dc6a83	The propositus, an 11-month-old, had developmental delay, round face, hypertelorism, large ears, broad nasal bridge, upturned nostrils, @PHENOTYPICFEATURE$, a high palate, redundant skin around the neck, micropenis, and @DISEASE$.	false
+9b69425ab1721cd73e847e51400c54e55c2e7e59	The propositus, an 11-month-old, had developmental delay, round face, @PHENOTYPICFEATURE$, large ears, broad nasal bridge, upturned nostrils, micrognathia, a high palate, redundant skin around the neck, micropenis, and @DISEASE$.	false
+0770a465a2ed405d50aa05d9a5a99fb2d2518b26	According to WHO, 360 Million people worldwide were affected by hearing loss in 2012, out of which 91% were adults and 9% children.Hearing impairment can be triggered by various mechanisms, such as locally destructive processes (chronic otitis media, @PHENOTYPICFEATURE$ or traumatic lesions) or systemic influences like infectious or ototoxic substances (measles, mumps, @DISEASE$ or medication and industrial agents).	false
+f824513e1127ecfd5b426ca09e6f09e96d6f9429	The patients share many of the characteristics previously reported with H syndrome, including hyperpigmentation, hypertrichosis, @PHENOTYPICFEATURE$, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including @DISEASE$ and autoimmune hepatitis.	false
+5cca0aec78c0e252c419a2b51b934c7d889a995b	A case of @DISEASE$ (ADNFLE) coexisting with @PHENOTYPICFEATURE$ harboring SCN1A mutation in addition to CHRNB2 mutation.	false
+f5661164aa62b2f86daede592fee416c56750d9e	The most frequent etiologies were breast and @DISEASE$ for neoplastic @PHENOTYPICFEATURE$ cases; and idiopathic, tuberculous, and fungal infection for non-neoplastic cases.	false
+42703c8ec07b6d99e4893eae6b04dc8f83bb90b6	@DISEASE$ patients were treated with cisplatin and etoposide, breast cancer patients with mitoxantrone, and @PHENOTYPICFEATURE$ patients with 5-fluorouracil plus folates.	false
+298e8d237056c020dcdef1572000ec79d82e3ca2	The study involved 80 patients with metastatic solid tumors who were in poor clinical condition (@DISEASE$: 35; breast cancer: 31; @PHENOTYPICFEATURE$: 14).	false
+e27d008a1730864936648dae538255371ce95ec1	[A case of juvenile @DISEASE$ with suspected progeroid syndrome and @PHENOTYPICFEATURE$].	false
+1c9191b85cdc34479309587a61ec93868f1ca841	The study included 50 patients suffering from @DISEASE$, @PHENOTYPICFEATURE$, breast cancer or brain glioblastoma, who were treated with MLT alone (20 mg/day orally in the dark period) or MLT plus A. vera tincture (1 ml twice/day).	false
+153ed45c4dde5ed33449ccdd13c227dfbc59648e	The study included 250 metastatic solid tumour patients (@DISEASE$, 104; breast cancer, 77; @PHENOTYPICFEATURE$, 42; head and neck cancers, 27), who were randomized to receive MLT (20 mg/day orally every day) plus chemotherapy, or chemotherapy alone.	false
+ba9c1d86e9ee5face01ad7dae0ace3723c334f1c	[Hoarseness, @PHENOTYPICFEATURE$ and Horner's syndrome--pneumonectomy: (Wallenberg's syndrome) (brain metastasis of @DISEASE$)].	false
+08fd2de4c45522a58b6b5d9e8a3d637001ddb2f5	Our patient has a significant family history of @DISEASE$ and other autoimmune diseases associated with familial hypercholesterolemia and @PHENOTYPICFEATURE$.	false
+a2836902cba8de32aa8f3589042634560a5d49dc	To elucidate the mechanism of malnutrition in patients with @DISEASE$ and normal food intake, we focused on the relationship between @PHENOTYPICFEATURE$ and these inflammatory cytokines.	false
+77237a40d1fb2b9d6e601f26adbacf5cf72e055b	A meta-analysis of the relationship between @PHENOTYPICFEATURE$-telangiectasia mutated gene polymorphisms and @DISEASE$ susceptibility.	false
+53295803d1f7f2d05878ba5b416a256dbb3971a1	@DISEASE$ (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital @PHENOTYPICFEATURE$ and feet.	false
+74795cc37734759d5db07af2770766c30a3518db	After requiring discontinuation of phenytoin, valproic acid, carbamazepine, and topiramate because of severe allergic reactions resembling @DISEASE$, the patient required pentobarbital coma along with phenobarbital, tiagabine, and levetiracetam for @PHENOTYPICFEATURE$ frequency reduction.	false
+0b7311a5bb514496276faadfcf2f796b3be2e7a8	Serious unexpected adverse events reported with sufficient frequency to signal previously undetected product-event associations for which there may potentially be plausible evidence to suggest a causal relationship have included @PHENOTYPICFEATURE$ and @DISEASE$.	false
+069db9e74088da3c6e4b129301ebc5374125346b	A third subject became @PHENOTYPICFEATURE$ free on zonisamide, but had to be withdrawn after 18 days because of mild @DISEASE$.	false
+e589e7a72e24783e7653acef84ed1ddab027760e	Here we show that there is a strong association in Han Chinese between a genetic marker, the human leukocyte antigen HLA-B*1502, and @DISEASE$ induced by carbamazepine, a drug commonly prescribed for the treatment of @PHENOTYPICFEATURE$.	false
+6ef8b22eec4e80f33ae3b6d3ecc557cc03ab0e8c	Cutaneous drug eruptions are to antiepileptic drugs (AEDs) used for @PHENOTYPICFEATURE$ prophylaxis can range from a maculopapular eruption to severe @DISEASE$ or toxic epidermal necrolysis.	false
+7a457a9ac026f93c046efa93ea3d08fe40921ae8	Four cases (one male, three females) with @PHENOTYPICFEATURE$ were reviewed; all had received carbamazepine therapy with appropriate dosage, then suffered from various cutaneous reactions including maculopapular exanthema, exfoliative dermatitis, erythema multiforme and @DISEASE$ after the initial therapy for two weeks to one month.	false
+7f9f7040d1c1f6785255b03132bc44ef132b8268	Traditional surveillance highlighted 4 potentially serious and unexpected adverse events (@DISEASE$, toxic epidermal necrolysis, @PHENOTYPICFEATURE$, skin ulcers) warranting labeling amendments or close monitoring.	false
+c96383ca2d9679872fc2a0a0706fa33343b01af2	This is a case report of @DISEASE$ due to an ayurvedic preparation which was used in the treatment of @PHENOTYPICFEATURE$ in a young girl.	false
+cf738c9e90944c8396479c883c36a9993c8e746c	Lamotrigine has been effective for partial complex @PHENOTYPICFEATURE$ and bipolar disorder and caused serious side effects such as @DISEASE$ or toxic epidermal necrolysis.	false
+2b170cd482cb328fdba520640810ef20444a4319	Based on previous reports and biologic plausibility, eight potential adverse events were monitored: meningitis/encephalitis; @PHENOTYPICFEATURE$; stroke; Guillain-Barr? syndrome; @DISEASE$; anaphylaxis; serious allergic reactions other than anaphylaxis; and serious local reactions.	false
+479e996b92cd3f1d0d4c89778698bd7ba5624fd4	@DISEASE$ 1 (TNDM1) is a rare imprinting disorder characterized by intrautering @PHENOTYPICFEATURE$ and diabetes mellitus usually presenting within the first six weeks of life and resolves by the age of 18 months.	false
+d0a0a9b2f0b3996caaa2227459c5b07c3f703a9e	The gene is maternally imprinted and is linked to developmental disorders such as @PHENOTYPICFEATURE$ and @DISEASE$ (TNDM).	false
+3ff197b48f3a90e4ae2e3fcfad9ad7bf72b462c2	The ZAC1 gene is maternally imprinted and is linked to developmental disorders such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a7cbded92c392b6579b5a090b1140f6706a0b645	@DISEASE$ (TNDM) is characterised by intra-uterine @PHENOTYPICFEATURE$, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome.	false
+bac3e086fe6022387b5a2c03971436410fbe63af	We report a male infant with @DISEASE$ (TNDM; MIM 601410), macroglossia, @PHENOTYPICFEATURE$, umbilical hernia, inguinoscrotal hernia and onychomycosis.	false
+84aa19b6787098635d19c9a51b7315eb66cde904	@DISEASE$ (TNDM) is associated with intra-uterine @PHENOTYPICFEATURE$, dehydration and a lack of insulin.	false
+fe609d0e699b2644f0b19245a8c0bcaa7c068828	The LOT1 gene is localized at chromosome 6q24-25, a chromosomal region maternally imprinted and linked to @PHENOTYPICFEATURE$ in several organs and progression of disease states such as @DISEASE$.	false
+939708067770ba254ec753ff31fa07191de49616	Loss of methylation at the ZAC1 differentially methylated region (DMR) is associated with @DISEASE$, a developmental disorder involving @PHENOTYPICFEATURE$ and diabetes in the first weeks of post-natal life.	false
+a45dbee35fa07d05c4c6a1d2549b92170a907a9a	Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of @DISEASE$ or a new @PHENOTYPICFEATURE$?	false
+5b654a9d15f92ae317682baa4282036242cfaf15	We considered that the patients could be affected by a new distinct autosomal recessive type @DISEASE$ or a new @PHENOTYPICFEATURE$.	false
+ccb1737a24072f237174e908efdcab81b2a205c9	@DISEASE$ is a rare short-trunk short stature @PHENOTYPICFEATURE$ characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones.	false
+2e825a39c17b6913929df0938a4796193d26555e	@DISEASE$: a @PHENOTYPICFEATURE$ with an altered mucopolysaccharide excretion.	false
+d7d30d50b8323f1b2e3478c8916b5bab10f9fb1a	@DISEASE$ is a heterogeneous @PHENOTYPICFEATURE$ characterized by generalized platyspondyly without significant long-bone abnormalities.	false
+cefa5f695279389144808d13ffb7157ce29f4175	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities.	false
+2aba29ff95052f25e1cea189447c7afd24c914d1	@DISEASE$ is a rare form of @PHENOTYPICFEATURE$ characterized by generalized platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones.	false
+b3cd57271eb02a3e7b3ab5c4242c9967e02a36c3	Individuals with this condition have early-onset @PHENOTYPICFEATURE$ and profound intellectual disability but share the same unique pattern on muscle biopsy as was noted in @DISEASE$; focal depletion of mitochondria was surrounded by abnormally large "megaconial" mitochondria.	false
+24b3f00923e945e79f5e5d9311f1bbeac98dde4c	We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, @PHENOTYPICFEATURE$, and @DISEASE$ result from abnormal function of an autosomal recessive gene.	false
+d1da6a0f0fa8e86d6ee3a14fada8f95d55d8e2cc	Loci for dominant retinitis pigmentosa (RP13), @DISEASE$ (CACD), anterior polar cataract (CTAA2), Miller-Dieker lissencephaly syndrome (MDLS), and a region of @PHENOTYPICFEATURE$ loss of heterozygosity (LOH) distinct from TP53 all map into the region adjacent to the 17p telomere.	false
+d0a2015908f03489008ae6e1079c704cd559f7c7	Loci for dominant retinitis pigmentosa (RP13), central areolar choroidal dystrophy (@DISEASE$), anterior polar cataract (CTAA2), Miller-Dieker lissencephaly syndrome (MDLS), and a region of @PHENOTYPICFEATURE$ loss of heterozygosity (LOH) distinct from TP53 all map into the region adjacent to the 17p telomere.	false
+b34343353265c82d74ac795a9fc4ab6c45071352	Spinocerebellar ataxia, @PHENOTYPICFEATURE$, and @DISEASE$ (Boucher-Neuh?user syndrome)	false
+c69dc9c28491f55eb150db66745c64c1b5b7487d	Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, @PHENOTYPICFEATURE$, @DISEASE$, and mitochondrial respiratory chain complex I deficiency.	false
+52dbd0ac7acf92a7f75b7b7a8b3d275cfaff2140	Nosology of the syndrome of spinocerebellar ataxia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+abc91f0f104554e5944174f5003cd86518ec20c2	Central neurogenic @PHENOTYPICFEATURE$ and @DISEASE$ in children with pontine gliomas.	false
+be4cc4b56881a31062fe59b8140f889be5523a49	@DISEASE$ and nerve @PHENOTYPICFEATURE$.	false
+ac36b6c9b36abeb8204ec54ba92208784b3a29a7	@DISEASE$ and @PHENOTYPICFEATURE$: report of a large family.	false
+f490c9dfbb8c8de70b71144e067c0e825c2d8afc	Siblings with congenital @DISEASE$ and nerve @PHENOTYPICFEATURE$.	false
+43d107eac227694539ed30c6fda8cdddaa471a9e	[@DISEASE$ and @PHENOTYPICFEATURE$.	false
+616f8426b04f07d8cbe98762d44066ed0026a693	@DISEASE$ with nerve @PHENOTYPICFEATURE$.	false
+a640810d182b4ee24d144f5d374540c2ace2c1b4	The syndrome of @DISEASE$ and nerve @PHENOTYPICFEATURE$.	false
+22c964437ba802049b6a7a8d1559b3a711f5ffae	[@DISEASE$ and perception @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+4c27b3d893e30f8f5f4bad0e6c2f9ba49dfd7858	Siblings with @DISEASE$ and nerve @PHENOTYPICFEATURE$.	false
+28db16eed1c662cc1a9dce00f36da2b49ca4849c	The patient developed progressive neurocognitive decline followed by @PHENOTYPICFEATURE$ and myoclonic jerking consistent with probable @DISEASE$.	false
+bb5c5e7b89ee11fc24af804ec48ccf3a00de1fdd	@DISEASE$ with unusual presentation of @PHENOTYPICFEATURE$ and ophthalmoplegia.	false
+56af39bbc7a60c27c08696df08da4acd58312006	A patient with histopathologically verified sporadic Creutzfeldt-Jakob disease (@DISEASE$) presented initially with diplopia, @PHENOTYPICFEATURE$, and L-dopa-responsive parkinsonism.	false
+e91dcde327f0a131e5134547adf82c8d096cd418	Creutzfeldt-Jakob disease (@DISEASE$) is a rare @PHENOTYPICFEATURE$ disorder, caused by the deposition of the pathological isoform of prion protein PrPsc in the central nervous system.	false
+c5c7d4307a41b08760a83a6daaea68bd1a76a74c	@DISEASE$ (CJD) is a rare @PHENOTYPICFEATURE$ disorder, caused by the deposition of the pathological isoform of prion protein PrPsc in the central nervous system.	false
+9e17cf29782a8381486e805c0ce027a191987760	We present a case of a patient with a family history of biopsy-proven @DISEASE$ who initially presented with symptoms of @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+e03546ef13a914cd049ac19d04629bd7b9e7f937	A case of @DISEASE$ (CJD) is reported in a 28-year-old woman who had received a cadaveric dural graft 19 months earlier after resection of a @PHENOTYPICFEATURE$.	false
+3d01749d0791a5bbab08ef958cca47e8f86155b7	A case of Creutzfeldt-Jakob disease (@DISEASE$) is reported in a 28-year-old woman who had received a cadaveric dural graft 19 months earlier after resection of a @PHENOTYPICFEATURE$.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+a6db526d25e57e3251d5091da872da40c0043871	The PrP deposits in the PNS are not correlated with clinical manifestation of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5457b02a3d05b61c196cea97dcdb6c11ad800e06	@DISEASE$ (CJD) is a presenile dementia characterized by rapidly @PHENOTYPICFEATURE$, myoclonic jerking, and other less common neurological signs.	false
+c1a2df2b4a593c23624ead20e445f755bd9f57bb	Creutzfeldt-Jakob disease (@DISEASE$) is a presenile dementia characterized by rapidly @PHENOTYPICFEATURE$, myoclonic jerking, and other less common neurological signs.	false
+d3ba9433c68deef17c86cb7a89429fd528bf802d	Two male patients from one family are reported, who are affected with @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, obesity and hypogenitalism.	false
+d6a6163c766c68175ccd876775631aa6ddcd9799	We report a case of @DISEASE$ caused by lymphocytic choriomeningitis virus with severe neurologic sequelae, including hydrocephalus, chorioretinitis, @PHENOTYPICFEATURE$ and developmental delay.	false
+cb4db9a5634deea1e06a26b3b33e28b86e343f43	We report the case of an infant with @PHENOTYPICFEATURE$, @DISEASE$, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS).	false
+175df3da84e193e6018972376e6178f34f72a0cb	We report on a 16-year-old female patient with severe intellectual disability, @DISEASE$, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and @PHENOTYPICFEATURE$ signs.	false
+1d40bc4a7bc5313c62c90ea61f1156b86be7257d	@DISEASE$ (BT) is an inherited blood disorder caused by reduced or absent synthesis of the hemoglobin beta chains, associated with profound @PHENOTYPICFEATURE$, jaundice, splenomegaly, expanded bone marrow volume, siderosis and cardiomegaly.	false
+57eb9c8920e965a01589ebf9ea74fd28d0ebd7fa	There is growing appreciation that double heterozygosity for hemoglobin E/beta-thalassemia, while causing variable @PHENOTYPICFEATURE$, can produce a clinical condition as severe as @DISEASE$ (beta-thalassemia major).	false
+1d61ecf663b39ff07aad052eaad741b5fb7b5dfa	Clinicopathologic similarities between @DISEASE$ and K?ttner @PHENOTYPICFEATURE$.	false
+83bbbf9de727a2c1d4aa53a73d553df2fca04ead	A significant percentage of cases previously classified as @DISEASE$, K?ttner @PHENOTYPICFEATURE$, and orbital pseudotumor (idiopathic orbital inflammation) show elevated numbers of IgG4-positive plasma cells, and some of these cases also show elevated levels of serum IgG4.	false
+9bce1f89f6b8fa28f5dc37f50929d84092051456	Salivary and lacrimal glands are a target of this disease and, when affected, may clinically resemble K?ttner @PHENOTYPICFEATURE$, @DISEASE$, or orbital inflammatory pseudotumor.	false
+e915b8f5866891491c9d84552575600a758ed2a6	IgG4-related diseases are a group of recently identified entities that include disorders that were previously known by other names, such as @DISEASE$, K?ttner's @PHENOTYPICFEATURE$, Riedel thyroiditis, among others, as well as some new ones described in the last years.	false
+8d0e97642a7160345521f918eff07ad194e16984	At present, several illnesses such as @DISEASE$, K?ttner @PHENOTYPICFEATURE$, multifocal fibrosclerosis, etc, are considered to be part of the IgG4RD spectrum.	false
+64059f2a00aa216d58e29ab06bd701215a6f7059	The head and neck involvements of IgG4-RD have been chiefly described in @DISEASE$ (MD), K?ttner's @PHENOTYPICFEATURE$, orbital?	false
+5b6dbda34cfed9103dc242be5dd1626c86a52f07	Some pathologic entities involving the head and neck are now considered to be part of the IgG4-related disease spectrum, including idiopathic orbital inflammatory syndrome (inflammatory pseudotumor), orbital lymphoid hyperplasia, @DISEASE$, K?ttner @PHENOTYPICFEATURE$, Hashimoto thyroiditis, Riedel thyroiditis, and pituitary hypophysitis.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+da9b6af7a4378a2ba246ce950a66df1e727f703e	We examined three patients with classic findings of familial dysautonomia (@DISEASE$) whose @PHENOTYPICFEATURE$ was associated with optic atrophy.	false
+12e932ef4928efca3749f84eafca64b1ba005505	We examined three patients with classic findings of @DISEASE$ (Riley-Day syndrome) whose @PHENOTYPICFEATURE$ was associated with optic atrophy.	false
+386650c693b9ef716346bcd0bd5abbc91b988a8f	Familial dysautonomia (@DISEASE$) is an hereditary sensory and autonomic neuropathy (HSAN type III), expressed at birth, that is associated with reduced @PHENOTYPICFEATURE$ and temperature sensibilities and absent baroreflexes, causing orthostatic hypotension as well as labile blood pressure that increases markedly during emotional excitement.	false
+e7c560c5a06ce7204b10ffa40bf873f59d02cbeb	@DISEASE$ (Riley-Day syndrome) is an hereditary sensory and autonomic neuropathy (HSAN type III), expressed at birth, that is associated with reduced @PHENOTYPICFEATURE$ and temperature sensibilities and absent baroreflexes, causing orthostatic hypotension as well as labile blood pressure that increases markedly during emotional excitement.	false
+80620c414500639e940a323628dbf1ba68aa120e	The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, @DISEASE$, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 @PHENOTYPICFEATURE$).	false
+a5976260773440ce7df88d94cc880deb844f7912	In contrast to patients with @DISEASE$, the three patients had universal loss of @PHENOTYPICFEATURE$ sensation, profound hypotonia, and unusual facies.	false
+7b7f1faa105693efcb7bf3c9d07ffcb13c6d1537	We present a man with @DISEASE$ and @PHENOTYPICFEATURE$ resulting from optic atrophy and visual field defect suggestive of chiasmal pathology.	false
+6ad8083e10d37f8e2fd8518346bc1fe89c4f89f3	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, @DISEASE$, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and glycogen storage disease type III.	false
+6f6b8deeb27bee2d317b34e3011b5c1258ceea7b	Some children who present with @PHENOTYPICFEATURE$ and @DISEASE$ fail to increase their growth rate at puberty, although the growth spurt can be restored by GH therapy.	false
+82884340f02a807d778a1bd5c531bdf410a8066c	Those that survive develop a @DISEASE$-like @PHENOTYPICFEATURE$, characterized by shortened growth plates and kyphosis.	false
+b3f3a4f3eb8962b20278fd88fabf5f5f02143f66	Antenatal ultrasound study at 29 weeks of gestation showed a large head, very @PHENOTYPICFEATURE$, and a small chest; the findings were more severe than in achondroplasia or @DISEASE$ alone.	false
+71eed91c9784bf202bbde775cb2453029c4def9a	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, @DISEASE$, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome.	false
+e84141afc4d4576fe04d53ed452845734d7bc3f2	Together with his small size, @PHENOTYPICFEATURE$ and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of @DISEASE$.	false
+4611d13abbf490117c1bb82ac3367f8847846a33	Achondroplasia (ACH) and @DISEASE$ (HCH) are the most common form of @PHENOTYPICFEATURE$ skeletal dysplasias caused by activated fibroblast growth factor receptor 3 (FGFR3) signaling.	false
+e22ac03cbbf2897a5e581fa3e242899fc16328af	We undertook a clinical trial of growth hormone (GH) therapy for patients with skeletal dysplasia accompanying @PHENOTYPICFEATURE$ caused by achondroplasia (ACH), @DISEASE$ (HCH), pseudoachondroplasia (PSACH), spondyloepiphyseal dysplasia congenita (SED), or Schmid type metaphyseal dysplasia (MD).	false
+b13af9baaccd27d749219a53d9e202a22aa558f0	In this study, we report four unrelated congenital anomaly cases presenting trisomy 21, @DISEASE$ syndrome, isolated @PHENOTYPICFEATURE$, and oligohydramnios sequence due to prune belly syndrome, in which fusion was observed.	false
+601af442382eed11a3be6fac5de500c2021ced57	@PHENOTYPICFEATURE$ revealing @DISEASE$.	false
+523611e0dffc4f35d3d2827646c73c2dc5ac3068	A child with combined @DISEASE$ and an undefined @PHENOTYPICFEATURE$ is described.	false
+47874f8ad22909b73163a75ad08083570f4174c7	Her brother was born with the same facial manifestations, distal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+48b4dc574be3fd0e1265ea271de87fee2d5a6a4f	Diffuse sarcoidosis associated with @DISEASE$ and terminal @PHENOTYPICFEATURE$.	false
+f6bf7f7705a9b30980234ba2725b5c1004e5e7be	It is rare for patients with @DISEASE$ to have @PHENOTYPICFEATURE$.	false
+c170457ab1802ed25ece44202f22b4e9adfee287	Another case of @PHENOTYPICFEATURE$ in a 60 year-old patient with @DISEASE$, chronic alcoholism and starvation is reported.	false
+f0383b87470353852c5bd18f21c2c6cde49c65d6	Skeletal changes following growth hormone treatment in a child with combined @DISEASE$ and a @PHENOTYPICFEATURE$.	false
+59369e3237b0ff9a7396409f26d1c5e826d8e365	@PHENOTYPICFEATURE$ and @DISEASE$ in a patient with Noonan-like syndrome with loose anagen hair-1.	false
+4e41d45b18c7a725043baf4b2127ba9a0ab3fa6a	@DISEASE$ in @PHENOTYPICFEATURE$ or lip.	false
+69ea168690767a4c432bed63ec02b832f765d57a	The SHOC2 mutation may be responsible for this patient's additional features of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8aee15925dd9d28cb63194a945a783967a4d6d07	Patients with @DISEASE$ frequently show @PHENOTYPICFEATURE$, strabismus, and abnormalities of eye movement.	false
+b57cd549f6375586f5d2556300a254391d16999e	The syndrome is characterized by @PHENOTYPICFEATURE$; a broad, prominent forehead, hypertelorism, @DISEASE$, a broad, short nose with anteverted nostrils, a long, broad upper lip, low-set, abnormally shaped and posteriorly rotated ears; simian palmar creases; brachyclinodactyly; short fingers; ligamentous laxity allowing for hyperextensibility of the fingers, genu recurvatum, flat feet; and an anomalous penoscrotal configuration resulting in "saddle" deformity with scrotal folds incircling the base of the penis.	false
+26272191639df935777add393f85ea7f8ce7a303	X-linked @DISEASE$ and associated intellectual disability, @PHENOTYPICFEATURE$, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+52a7298f950851cf881c05807a2f1a70dcaf5566	Whirlin mutations cause retinal degeneration and hearing loss in @DISEASE$ (USH2) and non-syndromic @PHENOTYPICFEATURE$, DFNB31.	false
+a5e3e38b39fc471c29cf97414222c36990d7dd8e	Usherin is a basement membrane protein encoded by the gene associated with @DISEASE$, the most common @PHENOTYPICFEATURE$/blind disorder.	false
+9480d4140e25589bc8cdbefdc07ee7ff34bbec1a	@DISEASE$ is characterized by partial @PHENOTYPICFEATURE$ and retinal dystrophy that occurs in late adolescence or early adulthood.	false
+dbb41617d69ca8b7a18cccd001cb47c99b848367	@DISEASE$ (MIM: 27601) is an autosomal recessive disorder characterized by moderate to severe @PHENOTYPICFEATURE$ and progressive retinitis pigmentosa.	false
+06daf53647bc7047fe8e18fe2eeb000cbb003b77	Mutations in whirlin cause either @DISEASE$ (USH2), a deafness-blindness disorder, or nonsyndromic @PHENOTYPICFEATURE$.	false
+f2d829cd5fc0ce27121ebad3389f09ed18c719fc	Mutations in whirlin cause either @DISEASE$ (USH2), a @PHENOTYPICFEATURE$-blindness disorder, or nonsyndromic deafness.	false
+80d02591f73b9546b0c3e7626688afcfa8cc7854	WHRN (DFNB31) mutations cause diverse hearing disorders: profound @PHENOTYPICFEATURE$ (DFNB31) or variable hearing loss in @DISEASE$.	false
+bf7967681c19a1e551836932591c421953e04ebe	The results of psychophysical measurements revealed similarities to other conditions involving a sensory type of @PHENOTYPICFEATURE$, such as @DISEASE$ and presbyacusis.	false
+38fa62e9f6bcad102723d661bb8c11c5c5708f50	Whirlin is a gene responsible for @DISEASE$ (USH2) and @PHENOTYPICFEATURE$.	false
+b6baca9f75308ee52d2886eb395c2ec811603b57	@DISEASE$ (USH2A) combines moderate to severe congenital @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+9c640be5f28ae42783ffa796d6c6b302ff1d27ea	@DISEASE$ (SCA11) is a rare, dominantly inherited human @PHENOTYPICFEATURE$ characterized by atrophy of Purkinje neurons in the cerebellum.	false
+e2008fe46d50bc648770c98bdd25fd8d8197aa76	@DISEASE$ (SCA11) is an uncommon cause of dominant @PHENOTYPICFEATURE$ among French and German kindreds.	false
+070b9a57350d373d6eb6e1385a09943e2d6fa472	@DISEASE$ is a rare, autosomal recessive dwarfing syndrome characterized by prenatal growth restriction, facial dysmorphism and absence of both @PHENOTYPICFEATURE$ and mental retardation.	false
+2bcf9b34978b3a41f4b5b4d5bf39dc0c5f5947f5	@DISEASE$ (MIM 273750) is an autosomal recessive disorder characterized by pre- and post-natal growth retardation (<-4 SD), facial dysmorphism, @PHENOTYPICFEATURE$, normal intelligence and endocrine function.	false
+23ca54eb8647ecd42071b86bb61198c86fb1b12b	A case of early @PHENOTYPICFEATURE$ encephalopathy with the @DISEASE$.	false
+999e99b93d8ff1478cbecad37ed0f7201eb396a5	We describe a male infant with early myoclonic encephalopathy (EME) associated with the @DISEASE$, microcephaly, multiple minor anomalies, and @PHENOTYPICFEATURE$.	false
+d97866f569b0795ee79c266ff261c363602411be	CONCLUSIONS Although HMSF should be associated with collateral circulation in @DISEASE$, other factors may be involved, including stagnated cerebrospinal fluid or vasogenic @PHENOTYPICFEATURE$ that is relevant to the impaired state of the white matter.	false
+7f60573eab0e4f24e775dfacba5b971f43c3569d	Consistent with many other types of @PHENOTYPICFEATURE$, cardiac inflammation, triggered by systemic and local stressors, has been shown in @DISEASE$ patients as well as in RVF animal models.	false
+e571b35e48a4a2b2996eef666f1f769508f3c458	Patients with @DISEASE$ might also suffer from severe pulmonary dysfunction, cardiac defects, congenital heart disease states, or a heterogeneity of cardiophysiologic challenges because of symptomatic @PHENOTYPICFEATURE$.	false
+38c93f37c367341fbcbbc7fc317a4e028d9f033c	Approximately 30% were associated with B cell @DISEASE$ (Waldenstrom's macroglobulinaemia, non-Hodgkin's lymphoma, chronic lymphocytic leukaemia, amyloid, etc.) with the remainder being labelled as monoclonal IgM gammopathies of uncertain significance (four having a @PHENOTYPICFEATURE$).	false
+c059e763f391189bb9bd7026a5108ebbd27798cd	Castleman's disease (CD), or angiofollicular lymph node hyperplasia, is a rare @DISEASE$ that can be associated with @PHENOTYPICFEATURE$.	false
+d811154a936adaf3f96fe835cd4d03631d8f719a	Primary selective involvement of a nerve is a rare mechanism of @PHENOTYPICFEATURE$ in @DISEASE$, to be added to systemic dissemination of lymphomas and leukemias, direct spread of an adjacent tumor, and immunologically mediated disease.	false
+f93f3f2e631503b7ae7a4d66d0b26c8475cd8805	Sural nerve specimens from ten patients with amyloidosis (hereditary, associated with @DISEASE$, or of unknown origin) and @PHENOTYPICFEATURE$ were investigated by immunohistochemistry at the light and electron microscopic level.	false
+c830b7c4889aee8f07e78ae6c29925ea9c57dcc7	Causes of pruritus include @PHENOTYPICFEATURE$, infestations, papulosquamous disorders, photodermatitis, xerosis, drug reactions, and occasionally @DISEASE$.	false
+aa6c6d2184cb9c8a8e1021599e739aa3c85b614d	Rarely @DISEASE$ (LPD) may be associated with @PHENOTYPICFEATURE$, based on different mechanisms of pathogenesis.	false
+ef0be60dfbd18bc52397b9a76850fbe5dcd07fc9	The following significant signals were identified for ATI (reduced therapeutic response, pulmonary edema, hypotension, serum sickness, infusion-related reaction, and anaphylactic reaction); for azathioprine (alternaria infection, fungal @PHENOTYPICFEATURE$, and @DISEASE$); for cyclosporine (neurotoxicity, graft vs. host disease, and thyroid cancer); for cyclophosphamide (disease progression); for daclizumab (cytomegalovirus infection); and for tacrolimus (coma and tremor).	false
+b221cab6cd8c8b9ad04f5427418ecd6923ef4815	Two patients with @DISEASE$ developed @PHENOTYPICFEATURE$ and neoplastic lymphocytic nerve infiltrates.	false
+45d07252c1bd78fd5ff1a1e91cbf8334fb83c392	Although uncommon, neurolymphomatosis may be considered in patients with chronic @PHENOTYPICFEATURE$ and an underlying history of a @DISEASE$.	false
+1689cb840b767fa702ef03e6c1417eb1cfc6c05e	Incidence rates for @PHENOTYPICFEATURE$, glomerulonephritis, and @DISEASE$ were 3.3, 6.6, and 12.2 per 1,000 person-years, respectively.	false
+f9ac831fd09ebc5a698c2f953aac9cc2b6912fe4	[A patient with @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism and @DISEASE$: Boucher-Neuh?user syndrome].	false
+97f9dbdd2090910a30606f1fff891b7b7aec804b	On admission, bilateral @DISEASE$, fixation nystagmus, slurred speech, @PHENOTYPICFEATURE$, decreased tendon reflexes, and pes cavus were present.	false
+8e21d571c589848775e6cf0b7b719c62a63bd803	Elevated iFGF23 levels are observed in a number of hypophosphatemic disorders, such as X-linked, autosomal recessive, and @DISEASE$, whereas low iFGF23 levels are found in the hyperphosphatemic disorder familial tumoral calcinosis/hyperphosphatemic @PHENOTYPICFEATURE$ syndrome.	false
+c0af42ecc1bbc28b76a7e384a85465153dbd8f28	Cerebellar hypoplasia, @PHENOTYPICFEATURE$, retinitis pigmentosa, alopecia, @DISEASE$, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".	false
+9cc3f1d5cfb062fed941de0ecca8a57d97657bc6	Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, @DISEASE$, psychomotor retardation, and @PHENOTYPICFEATURE$: "D-CHRAMPS syndrome".	false
+30e5a6c9da62ce8b25d0ffab0017795952f26721	The patient presented with low birth weight, @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, short stature, dysmorphic ears and cardiopathy.	false
+84c7a79163997d247e7ad0b3fc71389b8f31c538	The patient presented with low birth weight, @DISEASE$, developmental delay, facial dysmorphisms, @PHENOTYPICFEATURE$, dysmorphic ears and cardiopathy.	false
+52c9ba90e9e5bc96dab3cbb97a39505e5d67740f	Acquired alopecia, mental retardation, short stature, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1f954ce909e010b32a1d36944d04bfcd6ad5e3fd	Acquired alopecia, mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and optic atrophy.	false
+c4227612f6332785a137c37d1a2244189f851c99	associated with short stature, @DISEASE$, @PHENOTYPICFEATURE$, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR.	false
+487aa7e939ba0f6a37b32a733488be18385728a3	associated with @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR.	false
+a20597ad8d3dfdd584b95240e41c0fdfbd46de9d	We report a 20 year old man with short stature, @DISEASE$, unusual facies, numerous pigmented naevi, @PHENOTYPICFEATURE$, immunodeficiency, and a high pitched voice.	false
+39eb48fbe5b3af60d1f588da73872feeb4af0ac6	We report a 20 year old man with short stature, @DISEASE$, @PHENOTYPICFEATURE$, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice.	false
+faf8d8d5643e0c2af07faca809a9760b7fc4fb40	We report a 20 year old man with @PHENOTYPICFEATURE$, @DISEASE$, unusual facies, numerous pigmented naevi, hypodontia, immunodeficiency, and a high pitched voice.	false
+35572ffcd4ab0341849f0abd5d57307261b4277b	The LGS clinical spectrum includes intellectual disability (ID), short stature, @DISEASE$, @PHENOTYPICFEATURE$, exostoses.	false
+ece822f914ea19386a02d74d69f5fa0eb432a75f	The LGS clinical spectrum includes intellectual disability (ID), @PHENOTYPICFEATURE$, @DISEASE$, facial dysmorphisms, exostoses.	false
+b78c2156ff0b84f68e53803b0d8b4c386c35eb50	Interstitial 12p deletion involving more than 40 genes in a patient with postnatal @DISEASE$, psychomotor delay, optic nerve atrophy, and @PHENOTYPICFEATURE$.	false
+782a90db5d0016811a9b6e4f81bf7d70ab5f46ed	Interstitial 12p deletion involving more than 40 genes in a patient with postnatal @DISEASE$, psychomotor delay, @PHENOTYPICFEATURE$, and facial dysmorphism.	false
+c6007ae4f12329be0e3bfd1c841c94050a65bda1	We had the opportunity to examine a girl with oligodontia associated to @DISEASE$, to facial dysmorphia and to @PHENOTYPICFEATURE$.	false
+05ad66881a270427d76619438d135057ed10d167	We had the opportunity to examine a girl with oligodontia associated to @DISEASE$, to @PHENOTYPICFEATURE$ and to short stature.	false
+bd265af6bc28e2b1c8d03ac281205ddd444e50f1	A 34-year-old mother presented moderate mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, and characteristic facial dysmorphism.	false
+75f0d63ef5d304bf197afaf7fe50358bb04fa42c	A 34-year-old mother presented moderate mental retardation, short stature, @DISEASE$, and characteristic @PHENOTYPICFEATURE$.	false
+b8766475f60b69223069447a5f790756391c3bf5	A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, @PHENOTYPICFEATURE$, obesity, hypothyroidism, @DISEASE$ and mild intellectual disability.	false
+7c7f3fb8c218944dbdff91a04a7ba82b6addeb20	A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, @PHENOTYPICFEATURE$, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, @DISEASE$ and mild intellectual disability.	false
+edfd3ff3dbe5f8a1d4afe82d248e199c77a3a102	A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, @PHENOTYPICFEATURE$, hyperuricemia, short stature, obesity, hypothyroidism, @DISEASE$ and mild intellectual disability.	false
+58d430f520e18975b689e3a0b8bfb3f9ce5e5fda	Shortly after surgery, he developed clear features of @DISEASE$ with adipsic severe hypernatraemia and hypotonic polyuria, which was associated with @PHENOTYPICFEATURE$ that was confirmed with biochemical investigations and cognitive assessments.	false
+a80da798853df4fa24e649281a7af38bab43194c	Of these individuals, 105 remained NCI at the time of their death while the remaining 87 progressed to mild @PHENOTYPICFEATURE$ (MCI) or @DISEASE$.	false
+718c0c75377bfbb4124f082b3a19fe69ce953edb	@DISEASE$ are uncommon and extremely aggressive @PHENOTYPICFEATURE$.	false
+b8fa623b7f9d57f30c8ef36604132fc0ab908932	Alzheimer's disease (@DISEASE$), an irreversible progressive neurodegenerative disease, causes characteristic @PHENOTYPICFEATURE$, and no curative treatments are currently available.	false
+f790b5990a948631da2c8139e807051cca883ca3	Patients with amnestic mild @PHENOTYPICFEATURE$ (aMCI) are at risk of developing Alzheimer's disease (@DISEASE$).	false
+080eec4c064f9c419ea714c5153f842d1a75a5f5	Alzheimer's disease (@DISEASE$) is the most common neurodegenerative disease associated with cognitive decline, loss of memory, and progressive @PHENOTYPICFEATURE$.	false
+d64191417cfbf516eaa982af0764e4f89c809928	The low A? burden and early emotional and @PHENOTYPICFEATURE$ in this transgenic rat model supports its potential use for drug discovery purposes in early @DISEASE$.	false
+d5bacf13e98d84952b5cc719f14e793ba4e1e874	At least one form of residual deficit including @PHENOTYPICFEATURE$ was observed in 69% of all ADS patients, even in monophasic @DISEASE$.	false
+f969d9cbc9d742079e25abe83741bccb70272277	At least one form of residual deficit including @PHENOTYPICFEATURE$ was observed in 69% of all @DISEASE$ patients, even in monophasic ADS.	false
+3ff05d72dcfc4b8455d6842de8fe1a41b6e3721d	@PHENOTYPICFEATURE$ in Alzheimer's disease (@DISEASE$) is usually accompanied by synaptic loss in both the hippocampus and neocortex.	false
+22e579f2921ab55b66f2a5d4af3cfeda7e9a0a91	Thus we aimed to measure selenium (Se) status in Alzheimer's disease (@DISEASE$) and mild @PHENOTYPICFEATURE$ (MCI) elderly and compared them with a control group (CG).	false
+8439b16a884e59d57b2c076e5fdacabb94236a88	Mice deficient in @DISEASE$ (XPC-/-) exposed to chronic CS developed @PHENOTYPICFEATURE$ whereas their wild-type littermates (XPC+/+) did not.	false
+ec6a77946acebdbba88299aca8e48d381c57c8ed	The levels and rate of mutagenesis upon oxidative stress correlate with previous findings that @PHENOTYPICFEATURE$ in Xpc(-/-) mice overall arise late in the lifespan and that the incidence of internal tumors in @DISEASE$ patients is relatively low in comparison to skin cancer incidence.	false
+6b05fc67f97dc725698f32be5ca21547bfed7977	We believe that XPC plays a role in the removal of oxidative DNA damage and that, therefore, Xpc(-/-) mice display a significant increase in @PHENOTYPICFEATURE$ and a significant elevation in mutant frequency in lung, and @DISEASE$-deficient MEFs show greater sensitivity to oxygen when compared with Xpa(-/-) and wild-type mice.	false
+7929fffb81e23fcf1756b0e4d4a58edf40d86cdc	Analysis of published data indicated allelic loss of @DISEASE$ in most human @PHENOTYPICFEATURE$ and allelic loss of Gadd45a in some human lung and other cancer types.	false
+7e58e60737d39193d08bc4e5ed6f19f8c67b4ad7	Mice heterozygous for @DISEASE$ (XPC+/-) demonstrated a gene-dose effect, developing an intermediate number of @PHENOTYPICFEATURE$ with urethane treatment.	false
+bf575ad2a89d4edb1af20b73a58b6daef4b333c3	Coronary artery spasm (@DISEASE$) could cause serious lethal @PHENOTYPICFEATURE$.	false
+6458cde61cf037f920d078d14775f96eaa5e99f3	The proportion of the subjects with multiple risk factors including @PHENOTYPICFEATURE$, hyperglycemia, and hypertension was significantly higher in the @DISEASE$ patients with high VFA compared with the control subjects with normal VFA (CAD with high VFA 82% and control with normal VFA 33%).	false
+6c6a9585d9f5e371ca8bcc887bc9c3207163f593	The proportion of the subjects with multiple risk factors including @PHENOTYPICFEATURE$, hyperglycemia, and hypertension was significantly higher in the CAD patients with high VFA compared with the control subjects with normal VFA (@DISEASE$ with high VFA 82% and control with normal VFA 33%).	false
+523d66d9b8e1f17d42e88a9165932d54523de29a	The proportion of the subjects with multiple risk factors including hyperlipidemia, @PHENOTYPICFEATURE$, and hypertension was significantly higher in the CAD patients with high VFA compared with the control subjects with normal VFA (@DISEASE$ with high VFA 82% and control with normal VFA 33%).	false
+18497a44b76e5c999cab7bdcc7293d7a92d097bb	The proportion of the subjects with multiple risk factors including hyperlipidemia, @PHENOTYPICFEATURE$, and hypertension was significantly higher in the @DISEASE$ patients with high VFA compared with the control subjects with normal VFA (CAD with high VFA 82% and control with normal VFA 33%).	false
+e74d51733482140bc1bab26b2a51d8d5abc3ae6b	Chronic conditions included in the analysis were diabetes mellitus, hypertension, @PHENOTYPICFEATURE$, coronary artery disease (@DISEASE$), obesity, alcohol use, smoking, heart failure and ventricular arrhythmias.	false
+034e1278799e3f50c5076da23e55559f09894acb	Chronic conditions included in the analysis were diabetes mellitus, hypertension, hyperlipidemia, coronary artery disease (@DISEASE$), obesity, alcohol use, smoking, heart failure and @PHENOTYPICFEATURE$.	false
+36d55bb2e1bd51b520d127ed17bc316c33e1f9c5	The mechanisms involved in the development of coronary artery disease (@DISEASE$) in the diabetic population are multifactorial, including @PHENOTYPICFEATURE$, hyperlipidemia, hypertension, and insulin resistance, ultimately leading to endothelial dysfunction and accelerated atherogenesis.	false
+7eed2df18484db738ec582c3a0417c43bc9c17cf	The mechanisms involved in the development of coronary artery disease (@DISEASE$) in the diabetic population are multifactorial, including hyperglycemia, @PHENOTYPICFEATURE$, hypertension, and insulin resistance, ultimately leading to endothelial dysfunction and accelerated atherogenesis.	false
+1d70eae332657a94c601c6f1a3843fa595c8fa72	In this respect, glucose @PHENOTYPICFEATURE$, indicated by HbA1c, may play an important role in premature @DISEASE$.	false
+376a9cd7320c2b41c1ed54c65108ecb0a68ce08b	@PHENOTYPICFEATURE$ and elevated circulating OxLDL in DM patients with @DISEASE$ severely impair EPC migration.	false
+5dc1adb965da5b9adc4d26cee9aad1f75fbe2803	Patient with CAD and MS had higher risk than those with only @DISEASE$ because of lipid and glucose @PHENOTYPICFEATURE$.	false
+f54588002b89ee63df863a94357df7040d29598e	Patient with @DISEASE$ and MS had higher risk than those with only CAD because of lipid and glucose @PHENOTYPICFEATURE$.	false
+688123e0f41384edb02c373dc2d93d1c42fe2bb2	Diagnostic angiography revealed triple-vessel coronary artery disease (@DISEASE$) and bilateral severe @PHENOTYPICFEATURE$.	false
+79c8dcdac393635c8d6663102c6a8ebe4001c9bf	To analyze the incidence of coronary artery disease (@DISEASE$) and outcome of patients with @PHENOTYPICFEATURE$ (LVNC).	false
+5ce5f59339e731703bc582e029c1edecd770faa6	Coronary artery spasm (@DISEASE$) is associated with @PHENOTYPICFEATURE$ (VA).	false
+eaf6b444a2ce300c594ef5552476a256a03743bf	In some women, however, common pregnancy complications that include hemorrhage with associated @PHENOTYPICFEATURE$, sepsis, and severe @DISEASE$ will precipitate heart failure.	false
+8557e38bfd61b7b42a7fea3780664e6e16791094	Patients with @DISEASE$19 @PHENOTYPICFEATURE$ displayed relatively better OS (median: 45.3 vs 33.3 months, respectively) than those with L858R (31.4 vs 28.9 months, respectively).	false
+3f9d21f9c73f462bdc2e263ade3762be017f1469	@DISEASE$ @PHENOTYPICFEATURE$ dose can be assessed by PET and significantly impacts treatment response in HCC.	false
+c463a4ef615b5f7a7a135adbe8f3a02ad0551312	@DISEASE$ @PHENOTYPICFEATURE$ doses were 40 to 60 Gy in 5 to 7 weeks.	false
+aebc227470c897c246d2b00a02068c94bcd9fef9	An alternative and more physiological approach is to develop vaccines that @DISEASE$ @PHENOTYPICFEATURE$ antigen for in vivo uptake and presentation by the DC.	false
+abe1ca54ae2ddeab42d8a7b9150ceb666af258a4	Adoptive cell therapy using dendritic cells (DCs) is a strategy to @DISEASE$ @PHENOTYPICFEATURE$ antigens in cancer immunotherapy.	false
+61f64a87899e4aa2f86362510ac978fc31bfc910	Progress has been made recently in developing antibody-drug conjugates (ADCs) that can selectively @DISEASE$ cancer drugs to @PHENOTYPICFEATURE$ cells.	false
+43782ee7a8fe363b3edb98aae7bbe7c1db7ca42f	The prevalence of @DISEASE$22q11-syndrome among babies with @PHENOTYPICFEATURE$ with or without additional malformations was 1 of 57 (1.8%).	false
+fcc232f744527d26f2abb7e389135557a4bd5fd5	The finding that the Dis1@DISEASE$1p @PHENOTYPICFEATURE$ were frequent in MS- but not in MS+ tumors suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+2e5404c6f11f73bfec806565e56bbd1f247ce957	The finding that the Dis1@DISEASE$1p tumors were frequent in MS- but not in MS+ @PHENOTYPICFEATURE$ suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+f06e468933916885c23420ec635f96e6b8a2fe49	@DISEASE$ @PHENOTYPICFEATURE$ absorbed doses were derived from these measurements for head and neck, pelvis and breast treatments.	false
+646d2b3d01385eb8cac75eb5139b9e49f86dda3d	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this @PHENOTYPICFEATURE$-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+86e93dec75cd2104cd99482b58e3fb53fb15daad	That a @PHENOTYPICFEATURE$ can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+1a050d5c3c32d7d2cc23ef73b370c3a19832b425	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term @PHENOTYPICFEATURE$ suppression.	false
+fec08173d8f27764dc76cb4bdcae46cda95b3a7b	Two patients display clinical phenotypes unusual for liver Phk deficiency, with dysfunction of the kidneys (@DISEASE$) or of the nervous system (@PHENOTYPICFEATURE$, delayed cognitive and speech abilities, peripheral sensory neuropathy), respectively, in addition to liver glycogenosis.	false
+8cd26d63835526cb8529fc4c139f065b415c4312	One such report was a sporadic case of humoral immunodeficiency, @PHENOTYPICFEATURE$, and limb anomalies in a young girl, later referred to as @DISEASE$.	false
+3cdc4031c76e3e0d054e6eea74152152b45b9297	The most common first manifestations of disease were @DISEASE$ (in 17 percent), @PHENOTYPICFEATURE$ (in 12 percent), recurrent bacterial infections (in 10 percent), and candida esophagitis (in 8 percent), for which the median survival times from diagnosis were 72, 11, 50, and 12 months, respectively.	false
+bb3610fef9432581837b9ef7b3139b8ca3dea8ff	Similarly, rates of death, AIDS, opportunistic infections (bacteraemia, candidosis, cryptosporidiosis and bacterial pneumonia) and organ-specific diseases (wasting syndrome, thrombocytopenia, cardiomyopathy, @DISEASE$ and HIV-associated @PHENOTYPICFEATURE$) were lower in CP2 and CP3 than in CP1.	false
+18619ccbd37787a4c0357a655d8f9c2527226512	The development of opportunist infections, @PHENOTYPICFEATURE$, and delayed height and weight gain are associated with rapid progression, whereas @DISEASE$ and parotitis are associated with a slower progression.	false
+38f7b67670cda3d35231d576e57656132c984b88	Other entities are symmetrical gingival fibromatosis; Zimmermann-Laband syndrome with bone, ear, nose and nail defects and hepatosplenomegaly; Murray syndrome with multiple hyaline dermal tumors; @DISEASE$ with corneal dystrophy; Cowden syndrome with hypertrichosis, oligophrenia and giant fibroadenomatosis of breasts and Cross syndrome of @PHENOTYPICFEATURE$, oligophrenia and athetosis.	false
+07b9681fe91c4dc2c3308c9f4780a0dc42d48a09	The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, @DISEASE$ (MM) with calf @PHENOTYPICFEATURE$ and atrophy, and distal myopathy with anterior tibial onset (DMAT) with tibialis muscle atrophy.	false
+60db6a5b0262e6c37a4f368ea0b725fdd93c17bd	Here, we report that Sgt1 is overexpressed in colon, breast and @PHENOTYPICFEATURE$ tissues and in @DISEASE$ and rhabdomyosarcoma xenografts.	false
+3e723f2f426acc07ba24292c0ea94a6a72b57d78	Left atrial extension of metastatic @PHENOTYPICFEATURE$ via pulmonary vein: report on the first case of @DISEASE$.	false
+8bfee86ae2e10b46ac85862c3a33991e8a92431d	In our review of 111 metastases to the bone marrow over an 18-year period, the most common primary tumor types are, in order of frequency: breast carcinoma, neuroblastoma, @PHENOTYPICFEATURE$, rhabdomyosarcoma, @DISEASE$, prostate carcinoma, and gastrointestinal tract tumors.	false
+f1776888fbb164e0c64e8b547af9f58975f86bf8	We report a case of an uncommon @PHENOTYPICFEATURE$ in a 20-year-old female, morphologically and molecularly consistent with an @DISEASE$/PNET tumor with foci of squamous differentiation, and peculiar expression of vimentin, high-molecular-weight keratins, p63, synaptophysin, and chromogranin.	false
+ece30d1fcc56b82cd6f9cf2de823867982b88975	These genomic tools, particularly transcriptomic analyses using DNA microarray and RNA sequencing platforms, have now become widely used in zebrafish cancer models to uncover novel biology and common molecular pathways underlying @PHENOTYPICFEATURE$, intrahepatic cholangiocarcinoma, melanoma, embryonal rhabdomyosarcoma (ERMS), T cell acute lymphoblastic leukemia (T-ALL), @DISEASE$ and glioma.	false
+a2f58f78399ea94993773dce67a9150682a4d341	Diagnoses included two osteosarcomas, eight central nervous system tumors, one @PHENOTYPICFEATURE$, and one @DISEASE$.	false
+92216e95c15e2f951aaf3603cc84cf0de3861f1a	The authors report a 4-y-old boy who developed @PHENOTYPICFEATURE$ with florid rickets a year after completion of ifosfamide therapy for @DISEASE$.	false
+7ae42b6976061336a49bd837e6d74ce0d71259d5	A 39-year-old woman with primary spinal @DISEASE$ and known lung metastases presented with painless bilateral @PHENOTYPICFEATURE$ over a 1-month period.	false
+5b324e501e50a2f98e0ba5053915ab0995a429c8	Historically, the most common metastatic nonhematologic tumors to the bone marrow in adult and pediatric patients included breast carcinoma, neuroblastoma, prostatic carcinoma, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9f3cc81d75f5d5a24581dacb8871963f5412d5a4	A 16-year-old female with @DISEASE$, a very rare disease with poor prognosis in women, was admitted to the hospital with @PHENOTYPICFEATURE$.	false
+4f225d44997fc6a2476cff5d21ba44bfd5459df5	We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular @PHENOTYPICFEATURE$, cardiac defect, and @DISEASE$).	false
+9e7449f829e0e91e3a6cae9c4738de04b33c5da3	We report on a girl with growth and mental retardation, peculiar face with @PHENOTYPICFEATURE$, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and @DISEASE$.	false
+e2ec594b2ee9cf200d2eb06f386f56c93b579205	Spina bifida, @PHENOTYPICFEATURE$, exencephaly and @DISEASE$ were also observed frequently.	false
+4f5b01a14c2eda93304a525056a5678d68aac665	Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, @DISEASE$, vision problems and @PHENOTYPICFEATURE$.	false
+23fb658a671f47f1d04880b101df899e2a7c0eed	Capillary leak syndrome (@DISEASE$) is characterized by hypoproteinemia, diffused pitting edema, noncardiogenic @PHENOTYPICFEATURE$, and hypotension.	false
+30169b98d9d281eabe7ea14a6ff64c7883923e36	A biopsy of the @PHENOTYPICFEATURE$ was performed and the histological diagnosis was @DISEASE$.	false
+85f74cac21cf6d6814946cbc00d4e1d645243ef9	@DISEASE$ of the adult age is an uncommon @PHENOTYPICFEATURE$ with only 200 cases reported.	false
+019782daed993525a8f8bad751d64c7f3a866dd2	Demonstration by pneumoencephalography of @PHENOTYPICFEATURE$ shrinkage after therapy confirms the diagnosis of @DISEASE$.	false
+e62a51f5d333b5420aba33e91496dd3769bd60bc	Total removal of the @PHENOTYPICFEATURE$ by the occipital transtentorial approach established the histopathological diagnosis of @DISEASE$.	false
+c0c8e427651205a4cccc2cf62577c8d22c8acf6e	Associated @PHENOTYPICFEATURE$ were found on CT: 2 cases of suprasellar mass and 1 case of @DISEASE$.	false
+01c0b3be67077fc595eee9e37cb97628fb320007	The most common @PHENOTYPICFEATURE$ type was @DISEASE$ (n = 6).	false
+64893d31048602810e631fca4d6cab90a9e136f3	The pathological diagnosis of the @PHENOTYPICFEATURE$ was mixed pineocytoma/@DISEASE$.	false
+cd8b114d2e5aa7009c702f41e79f58570c792aa3	Further investigation showed that recipient's tumor and donor's pineoblastoma shared the same immunophenotype and HLA type, suggesting the recipient's @PHENOTYPICFEATURE$ is a donor-transmitted @DISEASE$.	false
+e6010824f6d6e79b42514766d9ea1a21487def9c	Further investigation showed that recipient's @PHENOTYPICFEATURE$ and donor's @DISEASE$ shared the same immunophenotype and HLA type, suggesting the recipient's tumor is a donor-transmitted pineoblastoma.	false
+11d480a3fabab2387dc73a66dbde713668750c49	Further investigation showed that recipient's @PHENOTYPICFEATURE$ and donor's pineoblastoma shared the same immunophenotype and HLA type, suggesting the recipient's tumor is a donor-transmitted @DISEASE$.	false
+a20aa4a93c076441f4dbe5904b348d2e66786754	Further investigation showed that recipient's tumor and donor's @DISEASE$ shared the same immunophenotype and HLA type, suggesting the recipient's @PHENOTYPICFEATURE$ is a donor-transmitted pineoblastoma.	false
+42c2250101b219dbfd4c8f14672a718e84aa0dd7	Histological examination after endoscopic biopsy confirmed that the @PHENOTYPICFEATURE$ was a @DISEASE$.	false
+96bb50905b22a25326c72dcce09fcd8dc0afcb1a	Three days later she underwent a stereotactic biopsy, which showed the @PHENOTYPICFEATURE$ to be @DISEASE$.	false
+3eb1ed2c78a0e13184ed7945c887f972ab7c0f37	At least six further patients with EEC syndrome and @PHENOTYPICFEATURE$ (two published, four unpublished) demonstrate, that anorectal malformation is a further, but rare anomaly in @DISEASE$.	false
+9ad4a626c062b8c9f0df74e680098bccb644d863	At least six further patients with @DISEASE$ and @PHENOTYPICFEATURE$ (two published, four unpublished) demonstrate, that anorectal malformation is a further, but rare anomaly in EEC syndrome.	false
+6d64cf867ce1daec913f23667b9d068add8dc382	In this report we document the concurrence of a large omphalocoele and @PHENOTYPICFEATURE$ in a female newborn with @DISEASE$ (Ectodermal dysplasia-Ectrodactyly-Cleft palate).	false
+97fc7ce4a4e43b6eaaeea295a6f50927f176faee	Up to now, the association anal atresia-@DISEASE$ has been noted in 4 other unpublished patients indicating that @PHENOTYPICFEATURE$ may constitute another true manifestation of this autosomal dominant syndrome with variable expression.	false
+29f24a41c7f6699a798fd568d608f2c946b8a3f8	Up to now, the association @PHENOTYPICFEATURE$-@DISEASE$ has been noted in 4 other unpublished patients indicating that anal atresia may constitute another true manifestation of this autosomal dominant syndrome with variable expression.	false
+fa8d85a7b403da7e4b42a1ce4af6b008a17a0379	@DISEASE$: the importance of @PHENOTYPICFEATURE$.	false
+25227c7b5c65356ba8320ba70def4754ebb0a282	@PHENOTYPICFEATURE$ and abdominal wall defect as unusual symptoms in @DISEASE$.	false
+49aba46366542e8520308760eb4921b3238cde9b	@DISEASE$ (CCHF) is a tick-borne infectious disease characterized by fever, malaise, headache, nausea, @PHENOTYPICFEATURE$, diarrhoea, sore throat, muscle aches, haemorrhage and thrombocytopenia.	false
+e32c10448989bb526ae1c3e818736a0edeb9e703	@DISEASE$ (CCHF) is a tick-borne disease characterized by nonspecific symptoms like fever, myalgia, severe headache, nausea, @PHENOTYPICFEATURE$, diarrhea, and abdominal pain.	false
+270bb9ea6611a0c29105279e616a8395d21fa9f4	@DISEASE$ (ARS) is characterized by bilateral congenital @PHENOTYPICFEATURE$ associated with abnormalities of the teeth, midface, and umbilicus.	false
+0b2ba3fa0da83f1a8d2a081cda2405c6617667af	The first child had a large basal encephalocele, agenesis of the corpus callosum, mild @PHENOTYPICFEATURE$ in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had @DISEASE$.	false
+1c0a1bc2f938d1123725f8768a89d97e18293c36	The @DISEASE$ is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases @PHENOTYPICFEATURE$, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation.	false
+775dd27633c8706ddee0caad2663035d950d21ae	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without microphthalmia and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative @PHENOTYPICFEATURE$, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+c1a68fe420c307e7666db5c075314860e0569946	@DISEASE$ capillary malformation (MCAP) is a syndrome involving brain overgrowth, characterized by megalencephaly, capillary malformations, asymmetric growth, polymicrogyria, polydactyly, and @PHENOTYPICFEATURE$.	false
+f72c05ac161e466567e65b31693b2cac704bca3d	A 3-year-old boy with @DISEASE$-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased @PHENOTYPICFEATURE$.	false
+57289dfa6e3ca1ecc188d457ad3b3d1b24602e1c	Ultrasonography reinvents the originally described technique for ganglion impar neurolysis in @DISEASE$ cancer @PHENOTYPICFEATURE$.	false
+15d51c574ba5fe1442560a97b67e618c050e1995	Results of 19 years experience with sacral rhizotomy for perineal and @DISEASE$ cancer @PHENOTYPICFEATURE$.	false
+5817d34e37c98c818adc9eadd8a2650b40aeaf18	Organ lesions in vHL patients were CNS @DISEASE$ in 10 (63%), pancreatic cysts in 7 (43%) and @PHENOTYPICFEATURE$ in 7 (43%) patients.	false
+55a2415218357e7eaaf7e7ee75e0d91a4e675b55	Manifestations included cases of RCC (31.6%), central nervous system (CNS) @DISEASE$ (73.7%), retinal hemangioma (47.4%), @PHENOTYPICFEATURE$ (47.4%) and pheochromocytoma (10.5%).	false
+ed76248df0966d310896c323c7d7ceb20fb2ee4f	Not all of the 6 classical lesions (@DISEASE$ of the CNS, retinal angiomatosis, pancreatic cysts, @PHENOTYPICFEATURE$ and carcinoma, pheochromocytoma and epididymal cystadenoma) are present in VHL families.	false
+d5fb3c447debe8fe04c27221582a6b4bd0795940	The Von Hippel-Lindau syndrome (VHLD), an inherited neoplastic syndrome predisposing to central nervous system @DISEASE$ (CNS), pheochromocytoma (PCC), renal cell carcinoma(RCC), retinal hemangioma (RA) and @PHENOTYPICFEATURE$, is caused by mutations or deletions of the VHL tumor-suppressor gene.	false
+289fea20a815720b1c71c268d657a929ad91258e	These include CNS @DISEASE$, retinal angiomas, endolymphatic sac tumors, pancreatic cysts and tumors, epididymal cystadenomas, pheochromocytomas, @PHENOTYPICFEATURE$, and clear-cell renal carcinoma.	false
+37c41a0d8865e0caac4eec0f95ed164cd26c3336	Common manifestations of the von Hippel-Lindau syndrome, an autosomally dominant inherited cancer-prone disorder, include retinal angiomatosis, @DISEASE$ of the central nervous system, @PHENOTYPICFEATURE$, renal cancer, pheochromocytoma, and epididymal cystadenoma.	false
+c95d09e9ec10b4f07df7b76ae141d6d98a826c1f	@DISEASE$ (SK) consists of a localized proliferation of basaloid keratinocytes, often accompanied by @PHENOTYPICFEATURE$ and hyperpigmentation.	false
+b814be38413dc584343e3f71653fac119b5fbfdd	These groups were compared with regard to gender, age of onset, age of diagnosis, time interval between disease onset and diagnosis, fever, abdominal pain, arthritis, chest pain, erysipelas-like erythema, @PHENOTYPICFEATURE$, amyloidosis, number of attacks per year before and after treatment, consanguinity, severity score, response of colchicines treatment, and family history of @DISEASE$ and amyloidosis.	false
+3caf750d284e0a1c3fcdbd841e41652cd64a5117	@DISEASE$; periodic fever, periodic abdominalgia, cyclic neutropenia, intermittent arthralgia, angioneurotic @PHENOTYPICFEATURE$, anaphylactoid purpura and periodic paralysis.	false
+7dc285aae068cb665152481536c42b07fbf019fd	Trisomy 18 at 11 + 0 to 13 + 6 weeks of gestation is associated with both mid-@PHENOTYPICFEATURE$ and micrognathia or retrognathia that can be documented by measurement of the @DISEASE$ angle and MMF angle, respectively.	false
+5fcf2027f9f82d8cb4f81166ab7f01328d166d13	According to modern images and results of our observations the oxidative stress (OS) is a non-specific though certain component of pathogenesis at numerous diseased states of organism having in the basis the thoroughness of pathogenic disturbances of phospholipids (PL) metabolism and processes of their free radical oxidation (FRO), which takes place in the membrane formations of as the whole cell, as well as the mitochondrial and microsomal fractions (MCF and MSF) of the white rat brain, liver mitochondria, lung shadows, at the same time erythrocyte and lymphocyte shadows at brain acute @PHENOTYPICFEATURE$, ischemia, reperfusion and desympathization, infarction of myocardium, tuberculosis of lungs, diabetes, @DISEASE$ (FMF), intoxications under halothane anaesthesia (HA) and with micotoxin zearalenon.	false
+1466e2cedf0565018d0363b36c70b5b693f9b9a7	According to modern images and results of our observations the oxidative stress (OS) is a non-specific though certain component of pathogenesis at numerous diseased states of organism having in the basis the thoroughness of pathogenic disturbances of phospholipids (PL) metabolism and processes of their free radical oxidation (FRO), which takes place in the membrane formations of as the whole cell, as well as the mitochondrial and microsomal fractions (MCF and MSF) of the white rat brain, liver mitochondria, lung shadows, at the same time erythrocyte and lymphocyte shadows at brain acute @PHENOTYPICFEATURE$, ischemia, reperfusion and desympathization, infarction of myocardium, tuberculosis of lungs, diabetes, Familial Mediterranean Fever (@DISEASE$), intoxications under halothane anaesthesia (HA) and with micotoxin zearalenon.	false
+631a776af16c01f77ad16d00715cb6fba6eaed3f	Barrett esophagus, a complication of gastroesophageal reflux disease (@DISEASE$), predisposes patients to esophageal adenocarcinoma, a @PHENOTYPICFEATURE$ that has increased in incidence more than 7-fold over the past several decades.	false
+c36be0a50bcf793721eddf9312a1b5a9f3115ff7	However, the mechanisms by which @DISEASE$ enhances @PHENOTYPICFEATURE$ formation at the gastroesophageal junction are not well understood.	false
+a9d63af2d5d10e0a1834b7e22526cae47080c149	Adenoid hypertrophy (??, ??), tonsil hypertrophy (??), sinusitis, nasal polyps, allergic diseases and upper respiratory tract infection @DISEASE$, @PHENOTYPICFEATURE$ and younger age may be adverse factors related to recurrent otitis media with effusion in children, the clinical doctors should pay attention to these symptoms, according to different causes, adopt individualized treatment plan, make children get the best treatment as soon as possible.	false
+764ac1fa63141715a7502269196961846bd989f9	The G/G allele was also associated with higher EGF levels in @PHENOTYPICFEATURE$-free patients with @DISEASE$.	false
+4d331b6c79fd4b88087bbbec05865a1b3af7591c	Instead of type II and type III @PHENOTYPICFEATURE$, there was a positive correlation with change in @DISEASE$ for type I tumors (r = 0.438, P = 0.029).	false
+9b62356043548654e935f45fd4302730634295b2	Instead of type II and type III tumors, there was a positive correlation with change in @DISEASE$ for type I @PHENOTYPICFEATURE$ (r = 0.438, P = 0.029).	false
+ba690ff08adf5643e9e708e11ca33b0ccb445f06	Gastroesophageal reflux disease (@DISEASE$) is present in 60%, esophageal motility disorder in 40-50%, @PHENOTYPICFEATURE$ in 5-10% and achalasia in 5% of such cases.	false
+17dc35e5c755cf3d613195ca9842098b876977ab	In addition, GERD-I patients had @PHENOTYPICFEATURE$, waist-to-hip ratio, and higher serum high-density lipoprotein levels than those with @DISEASE$ alone (P<0.05).	false
+a92086a0d2c31522aa76bce059cd12d6c5984bfb	In addition, @DISEASE$-I patients had @PHENOTYPICFEATURE$, waist-to-hip ratio, and higher serum high-density lipoprotein levels than those with GERD alone (P<0.05).	false
+f6587bb8302caddf95ca88702965d1b792fc025d	Outcomes assessed included @DISEASE$ symptoms; gross oesophageal injury; Barrett's oesophagus and related neoplasia; and intermediate markers of inflammation, proliferation or @PHENOTYPICFEATURE$.	false
+4f7560066ac3fbca1f76025e944d4e1621079830	Outcomes assessed included @DISEASE$ symptoms; gross oesophageal injury; Barrett's oesophagus and related @PHENOTYPICFEATURE$; and intermediate markers of inflammation, proliferation or neoplasia.	false
+e1408905151eb58e49ac3024a803255680d889e5	After age adjustment, oesophageal @PHENOTYPICFEATURE$, gastroesophageal reflux disease (@DISEASE$), gastric tumour, oesophageal varices, gastritis, hiatal hernia, gastric ulcer and erosive gastropathy, all p < 0.001 were significantly more common among men rather than women.	false
+d213fa7b1daf5a1d9cea3d6c78a78f9258e820e9	After age adjustment, oesophageal tumour, gastroesophageal reflux disease (@DISEASE$), gastric @PHENOTYPICFEATURE$, oesophageal varices, gastritis, hiatal hernia, gastric ulcer and erosive gastropathy, all p < 0.001 were significantly more common among men rather than women.	false
+63b74fa844e379dae662493d6eefaf9a525ea6f7	EAC mortality remains high, prompting strategies to screen individuals with @DISEASE$ (GERD) symptoms to identify BE and conduct surveillance in order to detect @PHENOTYPICFEATURE$ at a stage that is amenable to cure.	false
+8331a4dd56bcec471beb83016fe6bfc4831fb335	Subdural hematomas or effusions with profound @PHENOTYPICFEATURE$ was found in @DISEASE$ and Menkes disease.	false
+78de86e82c79cbe3307b25e3a88eaef641da3cb2	The clinical manifestations of @DISEASE$ are diverse; resting tremor, @PHENOTYPICFEATURE$, and parkinsonian gait were the most common.	false
+4b3398595f7ec2c2339a9d7ca8f1743ae1fa7e1d	They were monitored for post-TACE complications: postembolization fever (PEF), @PHENOTYPICFEATURE$ (NV), abdominal pain, infection, acute hepatic decompensation (@DISEASE$) and acute kidney injury (AKI).	false
+634f6128593371d17f803d2d391117f79049555e	They were monitored for post-TACE complications: postembolization fever (PEF), nausea and vomiting (NV), @PHENOTYPICFEATURE$, infection, acute hepatic decompensation (@DISEASE$) and acute kidney injury (AKI).	false
+88d0dcf7e9f8409149ed05bff73b92082a7c9b6e	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called Loeys-Dietz syndrome, type 4. In this paper we describe an 18-year-old girl with borderline mental impairment, seizures, retinal degeneration, @PHENOTYPICFEATURE$, @DISEASE$, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+bfedcff9d16f6613d56244b050eb8cbffe323a27	The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral @DISEASE$, delayed ossification of the femoral heads, scoliosis, @PHENOTYPICFEATURE$ secondary to growth hormone deficiency, and developmental delay.	false
+2bec5ddca3b87e76cd4ccb723a5718c2fde14bba	The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, @PHENOTYPICFEATURE$, hypotonia, bilateral @DISEASE$, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay.	false
+faac0dd4e83ce1f5c99300072e13aadac8c0e155	Examples include @PHENOTYPICFEATURE$, gigantism, premature and delayed skeletal maturation, some changes in fracture patterns associated with puberty, joint malalignments, @DISEASE$, scoliosis, limb torsions, the ball-and-socket ankle, and some skeletal abnormalities in Marfan's syndrome and the osteochondrodystrophies.	false
+e807b628a0c261601beb78bcd182459d34b6f6fe	@PHENOTYPICFEATURE$, @DISEASE$, chronic liver disease, gradual pancytopenia, lymphoma or leukemia, thrombocytopenia, and gastrointestinal bleeding have been reported as well.	false
+f214b325ab0d92ac9f3842430e656c8b3185e763	One girl exhibited @DISEASE$ and fibromatosis colli accompanied by other clinical features, including @PHENOTYPICFEATURE$, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability.	false
+51ba014736051ecc3690fec0352a2e9f2dc4abc6	Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head, epicanthic folds @PHENOTYPICFEATURE$, delayed language development, hypotonia, bilateral @DISEASE$ (DDH), large ears and triangular chin, caf? au lait spots.	false
+fcc599384cf6e60f1be63f01a2cf2320de085e53	The most common manifestations were @PHENOTYPICFEATURE$ (25 patients), limb-length discrepancy (23 patients), clinodactyly (19 patients) metacarpal bone and phalangeal abnormalities (13 patients), scoliosis (9 patients), foot syndactylism (5 patients), and @DISEASE$ (3 patients).	false
+c4446110ea575327bff59c707d228f3678ac4178	Side effects are as expected dysphagia and neck weakness in case of cervical dystonia, @PHENOTYPICFEATURE$, inocclusion and diplopia in case of blepharospasm, jaw opening difficulty with @DISEASE$.	false
+571ab8c0a8be21061d7c7cf865175215cb443090	Individual components of this syndrome may appear as isolated conditions, including @DISEASE$, brachydactyly, @PHENOTYPICFEATURE$, and osteogenesis imperfecta, and are autosomal dominant traits in many cases.	false
+8d745fe570bb39b816c49670325fd924d0c7cbdc	Individual components of this syndrome may appear as isolated conditions, including @DISEASE$, @PHENOTYPICFEATURE$, syndactyly, and osteogenesis imperfecta, and are autosomal dominant traits in many cases.	false
+ec945e6a86b3bacd1bd2bb7eaa89502b62fef362	We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cerebral, abdominal and probably coronary arteries due to suspected @DISEASE$, congenital cardiac abnormalities, brachydactyly and @PHENOTYPICFEATURE$ of the hands and feet, and increased bone fragility consistent with a mild form of osteogenesis imperfecta.	false
+9373a5e50549148bf5a1eced169179d05924c014	We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cerebral, abdominal and probably coronary arteries due to suspected @DISEASE$, congenital cardiac abnormalities, @PHENOTYPICFEATURE$ and syndactyly of the hands and feet, and increased bone fragility consistent with a mild form of osteogenesis imperfecta.	false
+2116b87781bae11b487bebd7ca1fa428ebc152b8	There was no evidence of any other @PHENOTYPICFEATURE$, atherosclerosis, or @DISEASE$.	false
+d573db619c498419c1df310b21b93394602400d8	Among women with imaging of other vascular territories, P-SCAD was less likely with a diagnosis of @DISEASE$ and extracoronary @PHENOTYPICFEATURE$ (42% vs. 64%; p?=?0.047; and 46% vs. 77%; p?=?0.0032, respectively).	false
+9008b977f7d87062505df00f518fcf107fba8137	The @DISEASE$ is an x-linked defect of purine metabolism resulting in its classical form in major @PHENOTYPICFEATURE$, hyperuricaemia, and hyperuricosuria.	false
+2deb26f92be49a95e4ae1cceb2a821f8af5635a8	Putative indications include prepubertal depression, school phobia, anorexia nervosa, explosive-aggressive behavior, learning disabilities, attention deficit disorder (hyperactivity), Tourette's syndrome, @PHENOTYPICFEATURE$, and the @DISEASE$.	false
+b1122dc10e370affa4047c83a9e145b99c1124c0	The @DISEASE$ in humans is characterized by lack of hypoxanthine phosphoribosyltransferase activity and @PHENOTYPICFEATURE$ that suggest changes in catecholamine metabolism.	false
+f60d2f222f435ebf168c6a4892cea45c7e964d24	In some patients, this cuff can extrinsically compress the pull-through, leading to chronic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b1b1d165e173b102b995e82728e3b48de402caf9	The most striking pathologic changes were gastrointestinal and mesenteric @PHENOTYPICFEATURE$, ulcerative @DISEASE$, and nephrosis.	false
+309d67c0ebd5a57bc4230dd6712712586c7814b5	Polycystic kidney features of the renal pathology in @DISEASE$: possible evolution to renal @PHENOTYPICFEATURE$.	false
+583a87f43b9d2540ecc4d3bacb223f24309ea372	Hepatic @PHENOTYPICFEATURE$ in glycogen storage disease type 1 (@DISEASE$).	false
+a1feccba37446d388ae26a3435a227a5e5cd7755	Even though significant progress has been achieved in the management of patients with @DISEASE$, hepatic (mainly adenomas) and renal (proteinuria, @PHENOTYPICFEATURE$) complications may still develop.	false
+113d3707c20beef247656508bac5c443249d03e1	This hypothesis is supported by an increasing number of reports of the appearance of hepatic @PHENOTYPICFEATURE$ in people suffering from inborn @DISEASE$.	false
+5832b48e1f96ff623d93dce668d43859cdfc111a	@PHENOTYPICFEATURE$ is a major complication in @DISEASE$ (GSD I).	false
+5a24cde0ff975bd67a43fb9e9ce603bea9f279c4	GSD Ia (@DISEASE$, Glycogen Storage Disease Type Ia) is a devastating genetic disorder with long-term sequelae, such as non-alcoholic fatty liver disease and @PHENOTYPICFEATURE$.	false
+760e0906906f1af60214bd7cdfc685f9e0bca639	The increasing reports on the appearance of hepatic @PHENOTYPICFEATURE$ in humans suffering from inborn @DISEASE$ agree with this hypothesis.	false
+9035ed724b4f34175be0a68afaef779afe364b98	Type Iota(a) glycogen storage disease (GSD Iota(a)) is caused by the @DISEASE$ activity, which results in metabolic disorder and organ failure, including @PHENOTYPICFEATURE$.	false
+4dc7fe5e08a2323aa7c136da2b305af8aef63f9e	Liver transplantation should be considered in @DISEASE$ patients with adenomatosis, especially when @PHENOTYPICFEATURE$ characteristics change.	false
+532bc7c9920d4c24d91ad7dda8b4e6735a74f715	The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, @DISEASE$; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, @PHENOTYPICFEATURE$, hepatic adenomas, and hepatocellular carcinoma.	false
+2d7366b614c4b49ebcff31b4f8b579412af96552	The @DISEASE$ (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, growth retardation, @PHENOTYPICFEATURE$, hepatic adenomas, and hepatocellular carcinoma.	false
+023f8179f5b1e4504581b22a5d4aa28553889ca1	Movement disorders in multiple sclerosis and @DISEASE$: A clinical marker of neurological @PHENOTYPICFEATURE$.	false
+c85e4e1989c929027ff2c47931e4c4b4426deca7	[Multiple sclerosis, @DISEASE$ and @PHENOTYPICFEATURE$: control of specific symptoms and quality of life].	false
+a099864a1749d0297c7d46787420023b8167f287	The ex vivo production of IL-6 and IL-21 by CD4+ T cells is directly associated with neurological @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+a9ac5593ef1f233fb7965489e48d67749b24d172	@DISEASE$ spectrum disorder (NMOSD), a relapsing autoimmune demyelinating disease of the CNS, often leads to severe visual and/or motor @PHENOTYPICFEATURE$.	false
+d4db259f11924be9f1280073df7a679d201b7ab3	Hypocretinergic dysfunction in @DISEASE$ with @PHENOTYPICFEATURE$-like episodes.	false
+d4db259f11924be9f1280073df7a679d201b7ab3	Hypocretinergic dysfunction in @DISEASE$ with @PHENOTYPICFEATURE$-like episodes.	false
+ff65fd79d443c407f563fd8793f6327fd6e67866	An African-American male presented with bilateral visual impairment, @PHENOTYPICFEATURE$, and bladder and bowel incontinence raising concerns for multiple sclerosis (MS) or @DISEASE$ (NMO).	false
+cddb4d00712c431f68829ec99d23b07435e4b82e	None of them presented cardiorespiratory arrest, head trauma, @PHENOTYPICFEATURE$, @DISEASE$ spectrum or contact with toxic chemicals.	false
+ee837bd0c2efcdeb0357fea61b1901ae401dd04f	@PHENOTYPICFEATURE$ in Japanese patients with multiple sclerosis and @DISEASE$.	false
+52b973d346809e5f98329ad266be4c9745e1c9f8	To our knowledge it is the first reported case of @PHENOTYPICFEATURE$ and @DISEASE$ in elderly patient.	false
+b58e08d2054ac4f510203f0d1985dce4696d0bfe	To better characterize NPH, we test the hypothesis that a prediction model based on automated MRI brain tissue segmentation can help differentiate shunt-responsive @DISEASE$ patients from @PHENOTYPICFEATURE$ due to Alzheimer disease (AD) and normal aging.	false
+6dcdce89efa3e92e783751ab475604292daf0687	Cerebrospinal fluid levels of tumor necrosis factor alpha and aquaporin 1 in patients with mild @PHENOTYPICFEATURE$ and idiopathic @DISEASE$.	false
+5304ff18abfd0268e482485bf829307ca3a9e753	Patients with @DISEASE$ typically show severe motoric and gait deficits and initially mild @PHENOTYPICFEATURE$.	false
+6e7f0266da7a1b785d0c9575b8bc173d6c650683	The resistance to cerebrospinal fluid outflow in the intrathecal infusion test was the main criterion for grouping patients into those with @DISEASE$ or those with @PHENOTYPICFEATURE$.	false
+13ac2586b3f773d550bc79db804235c5aa413ee2	Generally, the diagnosis of idiopathic @DISEASE$ (NPH) is raised in elderly patients with an association of gait disturbances, @PHENOTYPICFEATURE$, urinary incontinence and widening of the ventricles.	false
+ba7d27427a541c082d2cb12dd859404703dbc79d	The course of disease in patients with @DISEASE$ is influenced by the stage of disease--degree of @PHENOTYPICFEATURE$--and also by the implanted valve type.	false
+6f7b0c602223761d0b99bd46a38886aea08ea54f	Patients with idiopathic @DISEASE$ (iNPH) are often given shunt operations to reduce the triad symptoms (@PHENOTYPICFEATURE$, gait disturbance and urinary disturbance).	false
+64bc1da3d9fb793f771beefd30029b9ad0e40879	Using magnetic resonance-diffusion tensor imaging, we examined white matter changes within the brains of patients diagnosed with idiopathic @DISEASE$, @PHENOTYPICFEATURE$ and controls.	false
+3ae8e969cbdced1672a07181759c0a6375980140	Although dementia is one of the most relevant symptoms of the idiopathic @DISEASE$ (iNPH) syndrome, some doubts remain about the nature of @PHENOTYPICFEATURE$ in this disease.	false
+8c28e20d697c15b0bec09585cf5c056844da8334	These finding may help the differential diagnosis and prognosis of mild @PHENOTYPICFEATURE$ and @DISEASE$ patients.	false
+2b327d68e9fd0ad9ee8cf2386abf135326225b9c	Screening for vitreous abnormalities and maculopathy may be important in diagnosing, treating, and explaining @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4328c4b1ab74937fe720965e46c8a4159aa8c419	We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with @DISEASE$, Hunter syndrome, with degeneration of the retina and @PHENOTYPICFEATURE$.	false
+cb4f0f23063f1d64da5a177c432a64b620ea2185	We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, @DISEASE$, with degeneration of the retina and @PHENOTYPICFEATURE$.	false
+044f0c796baaf154cf4e7ae8100f98fe29aa9c4a	Although few magnetic resonance imaging studies have been conducted, those done have shown that patients with @DISEASE$ generally exhibit @PHENOTYPICFEATURE$, enlarged periventricular spaces and ventriculomegaly.	false
+668061839f3526159b8b8e6b17eb64dc086d8700	@PHENOTYPICFEATURE$ in three patients with @DISEASE$ (CDG Ia).	false
+eb40b60be25109a72b1c542c0e945eef7dea81b0	Although different genitourinary abnormalities associated with CDT have been reported, this is the first case of the association of CDT with penoscrotal @DISEASE$, unilateral undescended testicle, bilateral scrotal @PHENOTYPICFEATURE$, small and hypocompliant bladder and urethral obstruction.	false
+62841303653d58309818c8e8bb32ef596f1b320e	A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow @PHENOTYPICFEATURE$, and conical teeth and hypodontia, and @DISEASE$ and hypoplastic uvula in the boy.	false
+0678e7e19469247822d72c52b848342bb786ac9a	Unusual presentation of @PHENOTYPICFEATURE$ splenic malformation syndrome with autosomal dominant @DISEASE$.	false
+aa55bc79cc6a961fa8d0c2c1634a003264b3611d	Esophageal, duodenal, rectoanal and @PHENOTYPICFEATURE$, intestinal malrotation, malformed/hypoplastic pancreas, and @DISEASE$: further evidence of a new distinct syndrome.	false
+d2f5819c93b97d2ea33d218905e8a9ddff4283e8	We report on a male infant, born to nonconsanguineous parents, with a @PHENOTYPICFEATURE$, cardiac defect, tracheo-oesophageal fistula and @DISEASE$ (VACTERL association) together with bilateral tibial aplasia.	false
+27a997c618d4a60d0ee5724f5ed875b10363644c	We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic @PHENOTYPICFEATURE$, hypoplastic pancreas, and @DISEASE$.	false
+19d1bdbeb324db7772c021e34b1edc8c81813117	We report a 60 year old patient diagnosed as having delusional disorder and @DISEASE$ who was subsequently found to be suffering from idiopathic @PHENOTYPICFEATURE$.	false
+2d8d38a5a0e2e8ebce14f47398ddaf4da51e935b	However, asenapine can also cause oral @PHENOTYPICFEATURE$ and severe hypersensitivity reactions (angioedema, hypotension, skin reactions, etc).@DISEASE$ has also been reported with asenapine.	false
+e9f5420d976d381ee5822e58c3c722ba9aafa34b	A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn @DISEASE$ or reduced uptake, can lead to structural @PHENOTYPICFEATURE$ changes, or hair loss, although exact data are often lacking.	false
+eddd0bd09cbdcd959318708883a8a39fccc6e9c5	Among 37 cases with a combined degenerative encephalopathy/myelopathy and a @PHENOTYPICFEATURE$, nine had hereditary spastic paraplegia, six had heredoataxias (three of the Friedreich type), nine had lysosomal storage diseases (five of the Krabbe type), seven had other known inborn metabolic @DISEASE$ and six had biochemically undefined disorders.	false
+275cdb85f40e614a7c8a7f5d804260fc3599aa0d	Tyrosinase-related oculocutaneous @PHENOTYPICFEATURE$ (OCA1), an autosomal recessive inborn @DISEASE$ of pigmentation, is caused by the deficiency of tyrosinase.	false
+d8b9655cd7dda744aef7cea46862fe270c60ef1f	Albinism is a heterogeneous group of conditions having in common a hereditary @DISEASE$ of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of @PHENOTYPICFEATURE$ of eyes, skin, and hair.	false
+06b2a394cb6bdba717a30739ac9c10524d20f9f5	In the present study, using a rat model of recurrent @PHENOTYPICFEATURE$ (FSs), we found an increase in plasma CO, evidence of neuronal damage and apoptosis, an increase in the expression of the endoplasmic reticulum stress (@DISEASE$) marker glucose-regulated protein 78 (GRP78) and C/EBP homologous binding protein (CHOP), and an increase in phosphorylated protein kinase RNA-like endoplasmic reticulum kinase (p-PERK)/eukaryotic translation initiation factor 2 alpha (p-eIF2?) in the hippocampus after 10 FSs.	false
+0a63a1f907cb77b2c5876a7449631f3776d6337a	In neuropaediatrics the paediatrician and epileptolgist must be aware of congenital @DISEASE$ of metabolism as being responsible for epilepsy, especially in cases of drug resistant epilepsy or when accompanied by other systemic features, @PHENOTYPICFEATURE$ or unexplained biochemical alterations.	false
+838e91841e0dc3012e8fa937386cb44cb914bf62	The features and clinical implications of neurologic conditions, such as atypical facial @PHENOTYPICFEATURE$, trigeminal and @DISEASE$, reflex sympathetic dystrophy, and neurogenic inflammation, are also described.	false
+b4fdd8ad98a3ed90374881fecf583870265a9162	Trigeminal neuralgia and @DISEASE$ are two causes of paroxysmal craniofacial @PHENOTYPICFEATURE$.	false
+69c4f6bf27af46d94631b258925e4c1df83bffe9	The @DISEASE$ (GPN) constitutes approximately 0.2-1.3% of all facial @PHENOTYPICFEATURE$ syndromes.	false
+e318d34ad1ff1e8d93f5a38b69f661c33216a47e	@DISEASE$, ear pain, odynophagia, oral cancer @PHENOTYPICFEATURE$, pulsed radiofrequency ablation, side effects.	false
+3e60d7e1e3dd317d3e752643f056ec16f4d51803	@DISEASE$ is an uncommon cause of facial @PHENOTYPICFEATURE$ with a relative frequency of 0.2 to 1.3% when compared with trigeminal neuralgia.	false
+f7b76a5931c0421e7d84f4c144a4f537093be8aa	@DISEASE$ is a rare entity, and the aim of this report was to indicate the importance of tonsilloliths as a cause of orofacial @PHENOTYPICFEATURE$.	false
+2cc1f8073de89daadfc12c27274fe9ef91c080de	Previous diagnoses of @DISEASE$ and myofascial @PHENOTYPICFEATURE$ dysfunction syndrome had been made.	false
+7ef4b8b051646e5b7b583815625dcebcb6e013e9	@DISEASE$ (GPN) is an uncommon orofacial @PHENOTYPICFEATURE$ syndrome.	false
+39358f0e8fc3f2da6ef84465409d8b12cb60b01b	@DISEASE$ (GPN) is a rare disorder of the ninth cranial nerve characterized by severe paroxysmal @PHENOTYPICFEATURE$ affecting the ear, tongue, and throat.	false
+04bff5de52afc69abf4ab8f087d885a4eadc72cc	We report a Brazilian girl who was diagnosed as having @DISEASE$ (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for @PHENOTYPICFEATURE$.	false
+3196eb1413c58adc8425288511977e3f9c7e94d7	Dyskeratosis congenita (DC) is a rare inherited @DISEASE$ associated with @PHENOTYPICFEATURE$, fingernails, and tongue.	false
+daeb0fc3cf6e030b4127dd0e18d4dd14ae1ae1c9	Dyskeratosis congenita (DC) is an inherited @DISEASE$ that is characterized by lacey reticular @PHENOTYPICFEATURE$, dystrophic nails, mucous membrane leukoplakia and pancytopenia.	false
+b97ac1c68a31bf327c28720dca668452631966f3	When confirmed to be epileptogenic, such @DISEASE$ abnormalities may reflect an underlying subtle cortical dysplasia whose complete resection can lead to @PHENOTYPICFEATURE$-free outcome.	false
+afd8938b1bf24d64e9208482d0a1e20ca1f1b7e7	In this brief report, we describe the occurrence of @PHENOTYPICFEATURE$ in a 7-year-old girl with @DISEASE$ (PA), a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase and characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia.	false
+e2905f19642b86174e3ecdd3a1cb9bbf41d72580	Eighteen patients (38%), 7 with X-linked agammaglobulinemia and 11 with @DISEASE$, showed @PHENOTYPICFEATURE$, bilateral in 12 and unilateral in 6.	false
+d864a5cc8f7583bc24f55e6f13d1f2b6774396db	@PHENOTYPICFEATURE$ in @DISEASE$ disorders.	false
+bc21b69f9b16e437678f05c0cbbcdd51e3c98439	New syndrome of @PHENOTYPICFEATURE$, endocardial fibroelastosis, and cataracts (@DISEASE$).	false
+c4685593caa67fa1291758ae35e3bef3c54b7334	@DISEASE$ (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, @PHENOTYPICFEATURE$, and other anomalies.	false
+58f3199c45f6fdc0707f78e6bc2de206bfcb22b9	He also had bilateral @DISEASE$, inferiorly attached frenulum, generalized @PHENOTYPICFEATURE$, and wooly scalp hair.	false
+56828ae3bf1299b218b3f9e67d90d81a43a13e8d	The deafness, pre-auricular sinus, external @PHENOTYPICFEATURE$ and @DISEASE$ syndrome--otological, vestibular and radiological findings.	false
+51f37fb84b2e7768806cd3c0b9fc0123364bad62	We report on a family in which 3 sibs were affected with @PHENOTYPICFEATURE$, bilateral preauricular and @DISEASE$, monolateral branchial fistula, and rib anomalies.	false
+2df5efd2333d26f1aa1d5b78f45c1c81b78485d5	From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, @DISEASE$, preauricular sinuses, and external @PHENOTYPICFEATURE$ can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.	false
+6e027d3c76317922b4a9233019e847f8ea8c14da	From a clinical study in a large family spanning three generations, it can be concluded that the association of @PHENOTYPICFEATURE$, @DISEASE$, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.	false
+22d51d53338c36ec7a1f9530cf0f79c9e4a2fb4e	Recent reports have shown that a relatively high proportion of patients with @DISEASE$ exhibit a broad range of @PHENOTYPICFEATURE$.	false
+2b7b6966415033beae096753adaa4fce6a9c31bf	The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a) combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations); (b) previous history (@DISEASE$ [CAKUT] in the family, low birth weight, and oligoamnios); (c) clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, @PHENOTYPICFEATURE$, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction); and (d) pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment).	false
+1d5175de86477cf31a12b7f80e0392bd4c809477	The leading cause of moderate visual impairment was aphakia after @PHENOTYPICFEATURE$ surgery (congenital @DISEASE$.1%).	false
+3ab571f2b48f0fa58935bf224cc33c219b4cf3e4	Age-matched healthy Sprague-Dawley (SD), Wistar (WIS) and Wistar Kyoto (WKY), and CVD-prone spontaneously hypertensive (SH), Fawn-Hooded hypertensive (FHH), SH stroke-prone (SHSP), SHHF/@DISEASE$ @PHENOTYPICFEATURE$ obese (SHHF) and insulin-resistant JCR:LA-cp obese (JCR) rat models were considered for this study.	false
+2c6deba19aec018459cd71da588a05d2a72e5a10	Our analysis showed that protected technological innovations have been primarily focused on socioeconomically critical diseases such as "other cancers" (malignant neoplasm of head, face, neck, abdomen, pelvis, or limb; disseminated malignant neoplasm; @DISEASE$; and malignant neoplasm, malignant carcinoid tumors, neuroendocrine tumor, and carcinoma in situ of an unspecified site), diabetes mellitus, and @PHENOTYPICFEATURE$.	false
+9d0f0c83ddaa2135ae9bb8145a6a1fa070f69f92	CVD strains [spontaneously hypertensive (SH), SH stroke-prone (SHSP), SHHF/@DISEASE$ @PHENOTYPICFEATURE$ obese (SHHF), insulin-resistant JCR:LA-cp obese (JCR) and Fawn-Hooded hypertensive (FHH)] were compared with normal strains [Wistar, Sprague-Dawley (SD) and Wistar Kyoto (WKY)].	false
+96fac19a756041fc42029e692229ecbe359a22b7	had HCC in @PHENOTYPICFEATURE$ (3), BSEP deficiency (3), tyrosinemia type 1 (2), complications of choledocal cyst and @DISEASE$ (1 each).	false
+af022c6ad96e7a221f238475b6d09ceedc56d3ab	A gonadal @PHENOTYPICFEATURE$ was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and @DISEASE$.	false
+9a80955cd2c6c76aa2b7043627cad468babe1897	Histological evidence of @DISEASE$ with intragonadal @PHENOTYPICFEATURE$ was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in which at least one cell bears a Y chromosome.	false
+053ac58949031a3365c2487ed7c1aa8d3a0e007f	Bilateral synchronous @PHENOTYPICFEATURE$ in testes in unrecognized @DISEASE$: a case report and review of literature.	false
+716e97380b069fb5552f5dc7b5e1b9f6147628d8	A 46,XY female with @DISEASE$ and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal @PHENOTYPICFEATURE$.	false
+4ba889e3a837c16fd0a83f7aac448d8c5cff0f07	The reported age of @PHENOTYPICFEATURE$ development varies based on the etiology of DSD (gonadal dysgenesis, androgen insensitivity syndrome, androgen synthesis defects, @DISEASE$, etc.).	false
+deeca77a9ef1b7ea80fd438820057848979c61f7	Early development of a gonadal @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+944a7a4134a0a78ee570def28a1ee5fbb7996851	In the Japanese literature, 7 cases including our case of @DISEASE$ with gonadal @PHENOTYPICFEATURE$ have been reported.	false
+8ed579a7518989d9ceecfe86cee96bb2f8788f7e	The risk of @DISEASE$ (GD) or 46, XY 17 alpha-hydroxylase/17, 20-lyase deficiency (46, XY 17 OHD) was <10%, and no @PHENOTYPICFEATURE$ was found in five testis regression patients.	false
+120805fa285a474053ffbf60d5d7e55b1bf1c0e9	Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ leydig cell hypoplasia, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, @DISEASE$, testicular vanishing syndrome, klinefelter syndrome, @PHENOTYPICFEATURE$, isolated hypospadias and isolated micropenis was made.	false
+5721d717e96e4479d5984b57d8ab498ea81c1a03	In consequence of this chromosomal aberration the patient had @DISEASE$ which is associated with an increased risk of @PHENOTYPICFEATURE$ development in the aberrant gonads.	false
+97545a02a1b3262b76e80e677e1e1939de93c363	These pilot data show that PPA stimulates PCa cell proliferation and angiogenesis and that @PHENOTYPICFEATURE$ intensifies this activity, thus generating a mechanistic hypothesis to explain the worse prognosis observed in obese @DISEASE$ patients.	false
+2e50fa48e222a209b5263a999ceba01f95c67e1c	A rat model of 6?min CA is not capable to comprehensively mimic a post @PHENOTYPICFEATURE$ syndrome (@DISEASE$).	false
+f262f8f92d4610d2b26ebed0c634627de179b284	Individuals with @DISEASE$ have the lowest incidence of @PHENOTYPICFEATURE$ among the most common craniosynostosis syndromes.	false
+1d957ecf1b719fd066817aecfb57347146e87b1e	Atopic dermatitis, @PHENOTYPICFEATURE$, skeletal malformations, @DISEASE$, hypereosinophilia and recurrent infections: a case report.	false
+a1ed88bf3b3f5120a300b42d59232ebddb5d8563	A boy presenting the @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+4ae5a0614027ac5fc13d62a91620b859a5c182f0	Patients with @DISEASE$ have a dominant negative @PHENOTYPICFEATURE$ in their STAT3 gene which renders most of the protein nonfunctional.	false
+3f926f871dcb934fdeb638e5dc1a4d6a8c8f3587	@DISEASE$, characterized by hyperglycemia and @PHENOTYPICFEATURE$, is a metabolic disease resulting from defects in both insulin secretion and insulin resistance.	false
+4dc384bfc99b89ae0e0d523798dc6363c12f51c9	@DISEASE$, characterized by @PHENOTYPICFEATURE$ and hyperlipidemia, is a metabolic disease resulting from defects in both insulin secretion and insulin resistance.	false
+07fa5658c340b687c14311041f74f2090bda4822	@PHENOTYPICFEATURE$ and hyperlipidemia (glycolipotoxicity)-triggered islet ?-cell dysfunction is known to drive the progression of obesity-related @DISEASE$, however the underlying mechanisms have not been clearly elucidated.	false
+39a449962eda792fd300425798e557f26c7c7e62	Hyperglycemia and @PHENOTYPICFEATURE$ (glycolipotoxicity)-triggered islet ?-cell dysfunction is known to drive the progression of obesity-related @DISEASE$, however the underlying mechanisms have not been clearly elucidated.	false
+386d9013ea3a368ef0df4b5f05b2a50c098e037c	Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, @PHENOTYPICFEATURE$, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and @DISEASE$, osteoporosis and autoimmune disorders.	false
+cad724fa869e369072fc0cf4debdf29d62234191	Turner syndrome is associated with @PHENOTYPICFEATURE$, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and @DISEASE$, osteoporosis and autoimmune disorders.	false
+07c7ac17bb75002313d6edd5b86bacafedeb373a	@DISEASE$ (T2DM) is a systemic disease characterized by hyperglycemia, @PHENOTYPICFEATURE$, and organismic insulin resistance.	false
+b3eb5876cd669b4dce66e3c96cc32cb52f9634fe	@DISEASE$ (T2DM) is a systemic disease characterized by @PHENOTYPICFEATURE$, hyperlipidemia, and organismic insulin resistance.	false
+6c787cdf2eede7881ceccfcfc01231cd11928b09	This study assessed the level of adherence to current Canadian practice guidelines for inpatient pharmacologic management of @DISEASE$ and whether it affected the frequency of hyperglycemia or @PHENOTYPICFEATURE$.	false
+b741bb7e5b7f44ecd030b10443b90eb41051ddc1	This study assessed the level of adherence to current Canadian practice guidelines for inpatient pharmacologic management of @DISEASE$ and whether it affected the frequency of @PHENOTYPICFEATURE$ or hypoglycemia.	false
+227357ac9f9eac8eb82f3eb4647e4df511e6b82a	The spontaneously diabetic torii (SDT) fatty rat is a new model of @DISEASE$ showing overt obesity, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+818e55947749de0e11370694d8e78388fdf4427f	The spontaneously diabetic torii (SDT) fatty rat is a new model of @DISEASE$ showing overt obesity, hyperglycemia and @PHENOTYPICFEATURE$.	false
+249277c43575e2f54008d29931b535b9d2779299	Parenteral administration of MSG to rodents induces obesity, hyperglycemia, @PHENOTYPICFEATURE$, insulin resistance, and @DISEASE$.	false
+cc98c5af8c9447d684d23ab96630c4efe770b2c0	Parenteral administration of MSG to rodents induces obesity, @PHENOTYPICFEATURE$, hyperlipidemia, insulin resistance, and @DISEASE$.	false
+c0aaf644bc4dc39869ac9c6a61bc3f82bccfab31	Depression in @DISEASE$ was closely associated with @PHENOTYPICFEATURE$ and hypoglycemia, which might be partly mediated through poor treatment adherence.	false
+a96e6b14e8d7ad3bc55bc6f670bfad40531002bd	Depression in @DISEASE$ was closely associated with hyperglycemia and @PHENOTYPICFEATURE$, which might be partly mediated through poor treatment adherence.	false
+0ded30d9e6b908fb078e81b2d5e39a56fcf3922f	Lack of HISS action is suggested to be the cause of post-meal @PHENOTYPICFEATURE$ and hyperlipidemia in @DISEASE$ and other disease states with similar metabolic dysfunction.	false
+e202f5937b40dfd92aeb0bdebe7a4126de358f16	Lack of HISS action is suggested to be the cause of post-meal hyperglycemia and @PHENOTYPICFEATURE$ in @DISEASE$ and other disease states with similar metabolic dysfunction.	false
+072c21882319a6b8b50f7a218268470d3121598c	Patients with @DISEASE$ and mixed @PHENOTYPICFEATURE$ were recruited.	false
+1ad443a5d5d2a3e233f7f30fb35973d5d8789cdc	The @DISEASE$ syndrome is characterized anatomically by predominantly frontoparietal diffuse polymicrogyria and clinically by @PHENOTYPICFEATURE$ and mental retardation developing in early childhood.	false
+4846f810bc64ec710a91b98c4976291ec060d9a0	Focal segmental glomerulosclerosis (FSGS) is a common cause of proteinuria and @DISEASE$ leading to @PHENOTYPICFEATURE$ (ESRD).	false
+cef37f356de837191b6a1bcd709abe689552376f	In more than half of the 18 cases the disease was evidenced as @DISEASE$, but most of them had renal failure and @PHENOTYPICFEATURE$.	false
+c3a534531314c3b18c122964e78acf701d1dc762	Of these phenotypes, @PHENOTYPICFEATURE$ and syndromic or isolated @DISEASE$ are the most common.	false
+f34008309bb3ba0c0becfbe77d66a32386525982	To investigate the clinical features and prognoses of children who develop reversible posterior @PHENOTYPICFEATURE$ syndrome (RPES) during treatment for @DISEASE$ (NS).	false
+73bb878fefa704651351a66a2a38fa086445ec4f	In a sibship of four, Friedreich's @PHENOTYPICFEATURE$ and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich's ataxia, but no evidence of @DISEASE$; the fourth sibling had neither condition.	false
+30ecffd641a125a3e2474334797ba7a059a8c58e	In a sibship of four, Friedreich's @PHENOTYPICFEATURE$ and minimal lesion @DISEASE$ occurred in two siblings, a third sibling had Friedreich's ataxia, but no evidence of nephrotic syndrome; the fourth sibling had neither condition.	false
+d075eeb9c140e655aa9dc8adf187df2a82a4a31f	In a sibship of four, Friedreich's ataxia and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich's @PHENOTYPICFEATURE$, but no evidence of @DISEASE$; the fourth sibling had neither condition.	false
+84b5ad6b55d828e2c76174e5830b43d2b8922cae	In a sibship of four, Friedreich's ataxia and minimal lesion @DISEASE$ occurred in two siblings, a third sibling had Friedreich's @PHENOTYPICFEATURE$, but no evidence of nephrotic syndrome; the fourth sibling had neither condition.	false
+9c1e02d0b466bf4c5875b12ff27567c8c72d38ad	[Congenital microcephaly with @PHENOTYPICFEATURE$ and @DISEASE$].	false
+2ecd0137832ab742f5f63ad54207a7fb73e6c3fb	Paraneoplastic @DISEASE$ is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and @PHENOTYPICFEATURE$.	false
+4fe23e06cf26b8de8bdb087ebb938eb720b1331a	[Diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$; pathogenesis of diabetic glomerulosclerosis].	false
+78d1c8aea3200e68bc8235c782c0a5f0d5fdd873	Reversible posterior @PHENOTYPICFEATURE$ syndrome in children with @DISEASE$.	false
+95e9aecf2d24093a48eb41f463963538e88cf23a	The two siblings with Friedrich's @PHENOTYPICFEATURE$ and @DISEASE$ developed epilepsy at age 15 years.	false
+5d6281ef5cb7fb259bfe2290065be89a60fa681e	A French family had @DISEASE$ (CMT2) which was characterised by late onset of @PHENOTYPICFEATURE$ involvement, Argyll Robertson-like pupils, dysphagia, and deafness.	false
+094b9e82a3609cdcc38d3d3b3119aab545ad518b	Mutations in the mitochondrial GTPase mitofusin 2 (MFN2) cause @DISEASE$ (CMT2A), a form of @PHENOTYPICFEATURE$ that compromises axonal function.	false
+281515810f4594548173497f0cbd86c87052d46f	The @DISEASE$ (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and @PHENOTYPICFEATURE$.	false
+10ed6c0513062b9c74aa897e3b69a9e443edb833	Kleefstra syndrome (KS; OMIM #610253), formerly known as the @DISEASE$, is an autosomal dominant cause of intellectual disability (ID) characterized by hypotonia and @PHENOTYPICFEATURE$.(1,2)	false
+8e5b9fc13a22fbc8ed91fa0bd65cea8e2189a5a4	At 17 or 21 days of age ob/ob mice, defined by either (1) elevated carcass fat content when compared to littermates at time of killing or (2) by phenotypic expression of obesity at 6 wk of age, exhibited moderate @DISEASE$, reduced skeletal growth, and "@PHENOTYPICFEATURE$", as expressed by the Lee index.	false
+39df60b6ff17d87c9e1555db57fd564ff8528f11	At 17 or 21 days of age ob/ob mice, defined by either (1) elevated carcass fat content when compared to littermates at time of killing or (2) by phenotypic expression of @PHENOTYPICFEATURE$ at 6 wk of age, exhibited moderate @DISEASE$, reduced skeletal growth, and "obesity", as expressed by the Lee index.	false
+1837f56bb23ecb085ecf550001ba333e992c0ef5	In @DISEASE$ patients with @PHENOTYPICFEATURE$, there have been a few reports of pharyngeal edema.	false
+04900dae284b2c39933221c07a3a5781e781a063	The case of a female @DISEASE$ patient with @PHENOTYPICFEATURE$ who underwent palatoplasty is reported.	false
+9eede6796170d3a50f976b4c1c4029a989691247	@DISEASE$ is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with @PHENOTYPICFEATURE$, limb-joint contractures, and often respiratory failure.	false
+0ba6bdeedc3f0b67dced186385c524d4f3352f80	The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced @PHENOTYPICFEATURE$ risk and Russell-Silver syndrome (@DISEASE$) with intrauterine and postnatal growth restriction.	false
+70f65230361b9ef64edb378a69539f607ef6e5c2	To develop a risk scoring system (@DISEASE$) for predicting recurrence in women with borderline ovarian @PHENOTYPICFEATURE$ (BOTs).	false
+589bc5680b26d6fa2d2a7500496e2a92eb5fb234	The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated with two clinical disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS), characterized by fetal overgrowth and a high risk of @PHENOTYPICFEATURE$, and Russell-Silver syndrome (@DISEASE$), characterized by intrauterine and postnatal growth restriction.	false
+20c503955cfbbb5ead438a572c3f6b73c38c5846	Pattern reversal visual evoked potentials were studied in 21 patients with spinocerebellar ataxias among whom 6 had Friedreich's @PHENOTYPICFEATURE$, 10 had hereditary spastic ataxia and 5 had @DISEASE$ (olivopontocerebellar degeneration).	false
+57613f82880da01602b82bd7235a27e096634cd9	The VEP abnormalities found in 4 cases of Friedreich's @PHENOTYPICFEATURE$ and one with @DISEASE$, consisted of, bilaterally absent VEP in 3 patients and bilaterally abnormal responses with asymmetry in two.	false
+ef9e911f9bd3021600d17c786b37f2b80eaa29f4	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, peripheral dysostosis and mental deficiency.	false
+17ee5d6fabc8fce48f6ab359621fa73e67524b55	Adams-Oliver syndrome (@DISEASE$) is a rare condition defined by combination of cutis aplasia and transverse @PHENOTYPICFEATURE$.	false
+ab5eddeb25d26c93fbc79c2c84aa0cfc62098b5f	Adams-Oliver syndrome (@DISEASE$) is defined by the combination of @PHENOTYPICFEATURE$ and scalp defects, often accompanied by skull ossification defects.	false
+193bd974726d794aaef869b4d0db39d6379fab6b	Individual 1, a 14-year-old boy, has mild ID as well as mild microcephaly, corrected @DISEASE$, hyperkinetic disorder, mild @PHENOTYPICFEATURE$ and minor facial dysmorphism.	false
+8dd50ccf16f8a88c1309bf478bc1e5b3a2aba9c3	We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median @DISEASE$ ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, @PHENOTYPICFEATURE$, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts.	false
+9156c8cc1ae9a5caf909a8a3990768d4810f7889	Individuals with @DISEASE$ were significantly more likely to carry diagnoses of epilepsy, constipation, osteoporosis, obesity, and @PHENOTYPICFEATURE$; but were significantly less likely to bear diagnoses of hypertension, diabetes, osteoarthritis, heart failure, coronary heart disease, and COPD.	false
+e69a6b06af498b1ac6937d86ad3250805faea765	When tested, none of the diabetics was hypoglycaemic and these patients were divided into two groups: Group I: 30 @DISEASE$ patients unaware of hypoglycaemia, and experiencing frequent and severe episodes of @PHENOTYPICFEATURE$.	false
+1fdf0aa1a1ae3b69bb89981cedb9433a75789397	@DISEASE$ management of diabetes mellitus and dementia: walking a tightrope between @PHENOTYPICFEATURE$ and hypoglycemia.	false
+7086b26635c573fe335b8a7382168a07c29e3c99	@DISEASE$ management of diabetes mellitus and dementia: walking a tightrope between hyperglycemia and @PHENOTYPICFEATURE$.	false
+618d6e4206180045396cd6c1c5cd43babe25eaba	Acute @PHENOTYPICFEATURE$, provoked in 10 @DISEASE$ patients, was accompanied by an increase in laser doppler skin blood flux while transcutaneous oxygen pressure (TcPO2) decreased.	false
+4e01c839cafcb2889e78c968de5c938abafd06b6	Our data show that in insulin-infused IDD patients made euglycemic for these experiments: a) The GH response to acute, severe hypoglycemia was identical to that in the controls and the response to mild, prolonged @PHENOTYPICFEATURE$ was delayed, but of similar magnitude compared with controls; b) Exercise-induced GH responses were observed in both groups, but exaggerated in the diabetics at a higher exercise intensity; c) Hypoglycemia during exercise produced an additive effect on GH secretion in the controls but not in the @DISEASE$ patients.	false
+d081567cd862c4a664496fd8178ee277646c1b7a	Our data show that in insulin-infused @DISEASE$ patients made euglycemic for these experiments: a) The GH response to acute, severe hypoglycemia was identical to that in the controls and the response to mild, prolonged @PHENOTYPICFEATURE$ was delayed, but of similar magnitude compared with controls; b) Exercise-induced GH responses were observed in both groups, but exaggerated in the diabetics at a higher exercise intensity; c) Hypoglycemia during exercise produced an additive effect on GH secretion in the controls but not in the IDD patients.	false
+36a201f1e12af844a5660b292f4db1b6186eb744	We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, @PHENOTYPICFEATURE$ (head circumference 39 cm), dolichocephaly, @DISEASE$, short trunk and legs.	false
+c39d4b1fd1c12349ac5a29972eeb2fe38d8f8745	We report a case of a female neonate, without consanguinity between parents, with characteristic signs of @PHENOTYPICFEATURE$ dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm), dolichocephaly, @DISEASE$, short trunk and legs.	false
+ed05c770efb6899ee96ba77e62a18cda6e081828	Repeated ultrasound scans revealed @DISEASE$ with @PHENOTYPICFEATURE$ (BPD=10.3	false
+6b788a3b33a2416815322a25249bc9a22c1a572d	All patients had good outcome with regard to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6d5d5ba37d16b485fa33b286c5967bfba50395be	The search covered various forms of @DISEASE$, extracerebral fluid, and @PHENOTYPICFEATURE$.	false
+9dcf5383217401aab41384f48267ce0c030b9d45	Congenital LCMV infection is a significant, often unrecognized cause of chorioretinitis, @DISEASE$, @PHENOTYPICFEATURE$ or macrocephaly, and mental retardation.	false
+90591e5e24a2e3f3e5d527a13d09d72a0b7c01e2	Congenital LCMV infection is a significant, often unrecognized cause of chorioretinitis, @DISEASE$, microcephaly or @PHENOTYPICFEATURE$, and mental retardation.	false
+75014eb988e22f5971f20ba1099863924fcc7b87	Neurological manifestations, including @PHENOTYPICFEATURE$ and @DISEASE$, have been reported.	false
+b7d7378316bb2c74fc15c649abae290106a78d9b	High rates of chromosomal aberrations are observed in cases of cervical hygroma, @PHENOTYPICFEATURE$, omphaloceles, duodenal stenosis, @DISEASE$, and facial abnormalities.	false
+5179750d8e44ecd322a57e3c69549e8ea2e2da83	High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5c198d3c53efd0e7fe8e1c3809a54c8f8956841c	Hunter syndrome presenting as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+72c9069bac4f75dc290fe3254f3d2a67f265fdd4	External @DISEASE$ was diagnosed using computed tomography in seven children presenting with @PHENOTYPICFEATURE$.	false
+386eb033d540e6ce630f6a39cc33be51ce2bec0a	Idiopathic external @DISEASE$: natural history and relationship to benign familial @PHENOTYPICFEATURE$.	false
+ea5164e13b04ddeeb02f464b3447ea184025ad58	We sequenced the sucrase-isomaltase gene, SI, in a single Inuit proband with @DISEASE$ who had severe fermentative diarrhea and @PHENOTYPICFEATURE$.	false
+6a5c89af94188d86db0c3e0f673aad59f14489ac	@DISEASE$ presenting with @PHENOTYPICFEATURE$, hypercalcemia, and nephrocalcinosis.	false
+60f8e67d13aabb160a2ff821662de9dd04b92dea	We hypothesized that @DISEASE$ in humans modulates the response of human preadipocytes to glucocorticoids, predisposing them to @PHENOTYPICFEATURE$.	false
+91ed243c96b8a4daee5780a194c25524641fe7e9	We propose that the increased proliferation and enhanced differentiation of CBG-negative preadipocytes may promote adipose tissue deposition and explain the @PHENOTYPICFEATURE$ seen in individuals with genetic @DISEASE$.	false
+e69ce4594f80857ef09e1ca8ea4f7727eebada47	In humans, both genetic @DISEASE$ and suppressed CBG concentrations in hyperinsulinemic states are associated with @PHENOTYPICFEATURE$.	false
+24a19f77666f1f99a52af86f2ae5cf0a5f54521f	While current PKU treatment practices have eliminated severe neurological and @PHENOTYPICFEATURE$, evidence suggests that intellectual functioning, although typically within the average range when @DISEASE$ is treated early and continuously, may not be maximized under the current definition of well-controlled PKU, which is based on blood Phe levels.	false
+360223477df8b562203bef021d6f86af84c6efdd	While current PKU treatment practices have eliminated severe neurological and @PHENOTYPICFEATURE$, evidence suggests that intellectual functioning, although typically within the average range when PKU is treated early and continuously, may not be maximized under the current definition of well-controlled @DISEASE$, which is based on blood Phe levels.	false
+9418f55c36ef9e40db4a8d1eb7139f5334f24b36	While current @DISEASE$ treatment practices have eliminated severe neurological and @PHENOTYPICFEATURE$, evidence suggests that intellectual functioning, although typically within the average range when PKU is treated early and continuously, may not be maximized under the current definition of well-controlled PKU, which is based on blood Phe levels.	false
+ff09db17ae71e6d8a56cbf0cfbe23b45553ca68c	@PHENOTYPICFEATURE$ was less frequent in the @DISEASE$ group than in the control group (5/58 vs 14/58, z = 2.09, p < 0.05).	false
+c0526e4e555a2825f5a19b02b88ca1251fd8c2c8	We review in detail the aetiology, treatment, neural pathology, @PHENOTYPICFEATURE$ and electrophysiological abnormalities of @DISEASE$; and compare this with selected directly matching aspects of ADHD.	false
+6d98d3afd9db9c4e2f5f58befcd6b1c8694745cf	Dietary treatment of @DISEASE$ is well established to be safe and to prevent developmental and @PHENOTYPICFEATURE$ in patients with low or absent phenylalanine hydroxylase activity.	false
+e230863d54b813913388d0474f4bebbf9e5e7d8e	@PHENOTYPICFEATURE$, learning difficulties, and emotional problems occur at significantly higher rates in individuals with phenylketonuria (@DISEASE$) than in the general population.	false
+200e5e00b6f6a80c73b4fc8e78ac6b51cf52eda8	@PHENOTYPICFEATURE$, learning difficulties, and emotional problems occur at significantly higher rates in individuals with @DISEASE$ (PKU) than in the general population.	false
+83ea1da12ee3520955b5b58704680d24ca885eff	In clinical trials in patients with @DISEASE$, the following adverse events were identified: headache, rhinorrhoea (both at a frequency of >or=10%), pharyngolaryngeal pain, nasal congestion, cough, diarrhoea, @PHENOTYPICFEATURE$, abdominal pain and hypophenylalaninaemia (all at a frequency of >or=1% to <10%).	false
+54399ed6b9bbb0372d2838a8ffc9edb6ad5b334f	In clinical trials in patients with @DISEASE$, the following adverse events were identified: headache, rhinorrhoea (both at a frequency of >or=10%), pharyngolaryngeal pain, nasal congestion, cough, diarrhoea, vomiting, @PHENOTYPICFEATURE$ and hypophenylalaninaemia (all at a frequency of >or=1% to <10%).	false
+08b51a91bde5e3b31f147fc060c13fb944e30b3c	Low iron stores in infants and children with treated @DISEASE$: a population at risk for iron-deficiency anaemia and associated @PHENOTYPICFEATURE$.	false
+b96c49398d0ed217b820f0eff42a58ecd0d8b95e	A study of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+93c3895d2745dec530110a9e61f13345765970bb	Late-treated @DISEASE$ and partial reversibility of @PHENOTYPICFEATURE$.	false
+c214c9cbfdf8e48d08e1a687eedda9d13f210164	Phenylketonuria (@DISEASE$) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and @PHENOTYPICFEATURE$.	false
+3dd34759ac4cde6d104e9b0fb8c865547e935f28	@DISEASE$ (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and @PHENOTYPICFEATURE$.	false
+e6f1e107b25daf9067a93e863a0dd19f9abfdb4f	We report on a child with @DISEASE$ who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with @PHENOTYPICFEATURE$.	false
+b5ecaedb84e3d3d4fc82374f343a3b34db2c95cb	Two independent reviewers abstracted information about the presence and age of onset of @PHENOTYPICFEATURE$ in published @DISEASE$ cases.	false
+79555700c348e894f3c7b6039c99503c159cb6d2	[A case of familial type IIa @PHENOTYPICFEATURE$ with the clinical features similar to @DISEASE$].	false
+1f8687352a9bd43650566fff8b64a4d3b1152ade	CTX is a treatable disorder, stressing the importance of considering @DISEASE$ as a potential cause of @PHENOTYPICFEATURE$.	false
+0759f1b68896b781d0db43814af3e318e49ea2f7	@DISEASE$ is a treatable disorder, stressing the importance of considering CTX as a potential cause of @PHENOTYPICFEATURE$.	false
+24c794fe647453a15ec204328ac2ca471977109d	This review focuses on the frequency of more unusual, non-ataxia and non-spasticity @PHENOTYPICFEATURE$ reported in @DISEASE$.	false
+6d1520b450de4ab527abf5d80a2040bfd8fd37ab	Natural history of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+03b39cb3cac22e97c319fb2c5c044b2840d96f60	This report suggests a possible link between familial type IIa @PHENOTYPICFEATURE$ and cerebellar degeneration syndrome clinically mimicking @DISEASE$.	false
+73c2d29ff89d66e618d0f93465f2e26f065a22cf	Tendinous and tuberous xanthomas are typical for autosomal dominant @PHENOTYPICFEATURE$, as well as for some rare conditions, such as @DISEASE$ and familial ?-sitosterolemia.	false
+479a4f69e070b152bcb55ee0930ca7ba71e01f15	The natural history of @PHENOTYPICFEATURE$ in @DISEASE$ is not well understood.	false
+8934a1201683aabdfab8478984d03504b28dfea0	In total, 39 articles were reviewed, describing 55 @DISEASE$ patients with a @PHENOTYPICFEATURE$.	false
+cbea19374763f052e1f9615023204ac6965a4eef	Unusual movement disorders represent a rare clinical feature in CTX, but @DISEASE$ should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+9a8d3dc0114caa1ff1feb6ed7b6ae5ae00d85fa5	Unusual movement disorders represent a rare clinical feature in @DISEASE$, but CTX should be considered in the differential diagnosis of these @PHENOTYPICFEATURE$, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas).	false
+36f817779df16192791b85e5fb1e456156415278	Patient characteristics such as the presence of @PHENOTYPICFEATURE$, epidural catheters, renal impairment, or @DISEASE$ complicate the decision-making process.	false
+bf660cc35ca5e50905e938414594ef59e92ad885	@DISEASE$ is a frequent complication among patients hospitalized for @PHENOTYPICFEATURE$ who are awaiting heart transplantation.	false
+42ed745feb0230a01e5dfea38ffe8d30f66c8a49	Other complications(e.g., puncture site complications, side effects due to the contrast medium, radiation injuries, @DISEASE$, perianeurysmal edema, @PHENOTYPICFEATURE$, and aseptic meningitis)must also be explained to the patient.	false
+b1245592a1b9049603588d682e249ba7dc54efab	Multiple cardiac thrombi and thromboembolism in a @DISEASE$ antibody-positive patient with @PHENOTYPICFEATURE$.	false
+9bc9b91dbbe88bbc1aeb6d2fece051447079f355	@DISEASE$, allergy to heparins, @PHENOTYPICFEATURE$, thrombi, and the Kounis syndrome.	false
+8e5f1047311e19683cf864ba8f97292a18903781	The effect of @PHENOTYPICFEATURE$ on the rate of @DISEASE$.	false
+3a4f3f0da9be952cc8ea934eb40dff3d9821132f	Giant biventricular thrombi in a patient with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7303a214181fcda6f333f46d7edfa7df590eaf6b	Impact of @PHENOTYPICFEATURE$ on @DISEASE$ in cardiac surgery patients.	false
+804ad737d2fef97e3433646e0572a2ca6aeff7d8	Female gender, history of hypercoagulability, and @PHENOTYPICFEATURE$, among others, are independent predictors of @DISEASE$.	false
+b9d54991452e6efffa08cab1a8465ac2d0f7a206	Platelet activation is a feature of many inflammatory diseases such as @DISEASE$, acquired immunodeficiency syndrome, and @PHENOTYPICFEATURE$.	false
+ee0ce9a71cdc66754adb6fb68cb258b003e3bc08	Obstetrics. 22q11 deletion syndrome with truncus arteriosus, hypoplastic left ventricle, @DISEASE$, @PHENOTYPICFEATURE$, sandal toes, cleft palate, butterfly vertebrae.	false
+d7db1723d62449c3c95cbe19544cd61fe1807099	A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital @DISEASE$, @PHENOTYPICFEATURE$, and speech disorder is reported.	false
+455406fe2060468a19d474dd7fc31b176baed071	She had facial dysmorphism, atrial and @DISEASE$, impaired T-cell function, hypoparathyroidism, @PHENOTYPICFEATURE$, renal abnormalities and developmental delay.	false
+6fbecea04be4b36e334eb618aff9f333c33971c5	Patients with unrepaired pulmonary atresia and @DISEASE$ may develop stenosis of collaterals or shunts to the pulmonary arteries leading to hypoperfusion of lungs and systemic @PHENOTYPICFEATURE$.	false
+04506be2087f876c9b7420f3ebb44b969054aafe	Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, @PHENOTYPICFEATURE$, low-set ears, narrow chest, ambiguous genitalia, cardiac @DISEASE$ (VSD) and agenesis of the corpus callosum.	false
+4c9c88831bb8923e5ec8a1c1b9767c14a7b89729	Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral @PHENOTYPICFEATURE$, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (@DISEASE$) and agenesis of the corpus callosum.	false
+dcc9c81ce5d1a226e88fb3d811bf3b4cd56d0da3	Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral @PHENOTYPICFEATURE$, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac @DISEASE$ (VSD) and agenesis of the corpus callosum.	false
+157bd9bd727c0187cc92e8cea2b92e792f54792d	Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, @PHENOTYPICFEATURE$, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (@DISEASE$) and agenesis of the corpus callosum.	false
+0533542c32e546b768995d3372fea1fd4a00582e	Manifestations include: @DISEASE$ and ASD, mild developmental delay, @PHENOTYPICFEATURE$, minor facial anomalies, thrombocytopenia, and radiological findings (including carpal fusion).	false
+e7a5cb6651aa0f6311b16d667113121913639e06	We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, @PHENOTYPICFEATURE$, iris and chorioretinal coloboma, ectopic kidney, and @DISEASE$.	false
+b820e1779a5767aa9b63b855d47862e871907a73	We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild @PHENOTYPICFEATURE$, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and @DISEASE$.	false
+33b9f5d8b1b3a554fab946053d8d187f575c3a40	In some reports, complications of supernumerary tooth were severe and involved areas other than the nose (cleft lip and/or palate, bilateral @PHENOTYPICFEATURE$ and ectopia lentis, familial adenomatous polyposis coli, @DISEASE$ or patent ductus arteriosus).	false
+2edd3fa81395b44249f8b4b6d0ddbcacb69d129c	There were some associated anomalies in the groups that included club-@PHENOTYPICFEATURE$ in 6 cases, ventricular septal defect (@DISEASE$) in 2 cases, polycystic kidney in 2 cases, scoliosis in 1 case, hypoplasic left ventricle in 1 case; alone atrium, single umbilical artery, echogenic focus, hydronephrosis and cleft lip and palate in the same case, and omphalocele in one.	false
+b2325af704fef5794310a33ea0d8c258ffd07dcc	There were some associated anomalies in the groups that included club-@PHENOTYPICFEATURE$ in 6 cases, @DISEASE$ (VSD) in 2 cases, polycystic kidney in 2 cases, scoliosis in 1 case, hypoplasic left ventricle in 1 case; alone atrium, single umbilical artery, echogenic focus, hydronephrosis and cleft lip and palate in the same case, and omphalocele in one.	false
+65ef024cbe3dc1b2c7ad84a25f17c75b5ab78820	The clinical findings were: congenital cataract, @PHENOTYPICFEATURE$/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, @DISEASE$, and skeletal anomalies.	false
+5c93bb9343b9fb59fa539f8f01650e71b00036ad	The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, @PHENOTYPICFEATURE$, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, @DISEASE$, and skeletal anomalies.	false
+517cdb98d26e7f992a30672edb69f388b5ceb261	The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary @PHENOTYPICFEATURE$, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, @DISEASE$, and skeletal anomalies.	false
+d9918e5ca6a20fb91790529d4cbf794d53f54f3a	Key predictors of @DISEASE$ included frontal region of @PHENOTYPICFEATURE$ location (p=0.001),	false
+10a5606710398b00e0abc994ebd346fe181ecedf	In vivo in mice, MDD substantially potentiated the effects of RT by a significant delay in @PHENOTYPICFEATURE$ growth, in comparison with administering @DISEASE$ or RT alone.	false
+89147c922958e46b00b72ec63fde95eaaa91402d	After 11 weeks of @DISEASE$, @PHENOTYPICFEATURE$ protection persisted for at least an additional 7 weeks of methyl donor repletion (22.2 ? 3.5 vs. 70.2	false
+71307de1b3c016504d59079c9ae7fa3a89a92ec0	Changes in the @PHENOTYPICFEATURE$ necrosis factor-? (TNF?) have been associated with major depressive disorder (@DISEASE$).	false
+bf63981ec4ec09712296ae92c909618b7e743082	In Path 2, family history of alcohol use disorder predicted difficult temperament in childhood, which predicted @PHENOTYPICFEATURE$, major depressive disorder (@DISEASE$) and anxiety disorders; both major depressive disorder and anxiety disorders in turn predicted alcohol use disorder severity at treatment entry.	false
+3d060ce5b33456e92a9840f36957ae1bbf3b2140	In colon, although @DISEASE$ did not affect tumor numbers, @PHENOTYPICFEATURE$ size was reduced.	false
+9cc36820f32a0df1b868ccbc6fdbb3c20e8efebe	In colon, although @DISEASE$ did not affect @PHENOTYPICFEATURE$ numbers, tumor size was reduced.	false
+ebf4917421e577d85f0219019ecc8288900c069e	Unspecified @DISEASE$ was predicted by younger age, low concentrations of @PHENOTYPICFEATURE$ necrosis factor-??and elevated life-event impact scores.	false
+6ee954d5e2d2d72c80e48097da7f0de96e7d9e2a	@DISEASE$ and MSD groups had shorter @PHENOTYPICFEATURE$ latency periods (73 and 74 days, respectively) than the CSD group (105 days).	false
+b10c1244dba84fe82464305aa60b539898e58e2b	PBMCs of @DISEASE$ patients produced significantly lower interleukin (IL)-2, IL-4 and @PHENOTYPICFEATURE$ necrosis factor-? levels when compared to healthy controls.	false
+8672d265675cb5884e2c802c7a5899df62658a1c	The present study extends these findings and shows that @PHENOTYPICFEATURE$ protection afforded by dietary methyl donor deficiency (@DISEASE$) is long-lasting.	false
+98cb3406ca33fbb7a312b8b1a8720449d6fa1059	@DISEASE$: a de novo @PHENOTYPICFEATURE$ in the iron responsive element of the L-ferritin gene.	false
+1ac31593fb05584b6b190e06701270d20397a48b	@DISEASE$ (SCT) (OMIM 272460), originally thought to be a failure of normal spine segmentation, is characterized by progressive fusion of vertebras and associates unsegmented bars, scoliosis, @PHENOTYPICFEATURE$, carpal and tarsal synostosis.	false
+f29a6973f1ca39d089750bd9e58b636db018da1f	Practical guidelines are provided for the use of lipid-based AmB formulations in @DISEASE$ patients who have documented or probable invasive fungal infections, are experiencing neutropenic @PHENOTYPICFEATURE$, or require secondary prophylaxis for fungal infections.	false
+119e529f6bbe5323f666c0e15e3494fb05de4981	@DISEASE$ (SCT) is a rare group of skeletal dysplasias, characterized by disproportionate short stature with a short trunk, abnormal segmentation of the spine with vertebral fusion, scoliosis and lordosis, carpal and tarsal synostosis, and mild @PHENOTYPICFEATURE$.	false
+4dfabbff23d2f882cd52975e17a8ce7af819a4bd	@DISEASE$, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, @PHENOTYPICFEATURE$, and carpal/tarsal synostosis, has been associated with biallelic truncating mutations in the filamin B gene or monoallelic mutations in the myosin heavy chain 3 gene.	false
+0924d75a7aa59a72d68eb4249dc52eb79b611df3	We report on a 5-year-old boy with spondylocarpotarsal synostosis (@DISEASE$) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild @PHENOTYPICFEATURE$.	false
+ee14a4096291aecbc415025d788eecd957c89c55	We report on a 5-year-old boy with @DISEASE$ (SCT) syndrome who presents with disproportionate short stature, thoracic scoliosis, pes planus, dental enamel hypoplasia, unilateral conductive hearing loss and mild @PHENOTYPICFEATURE$.	false
+ac7306e67e73964e7af2876664f8f4bbebfb4810	@DISEASE$ (SSS) is an autosomal recessive condition which is characterized by @PHENOTYPICFEATURE$, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly.	false
+30365d3cf02e92d990e7eff89bbeb01e62a9db0c	@DISEASE$ (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, @PHENOTYPICFEATURE$ and carpal and tarsal synostosis.	false
+1eafca09fddad25fe27153c868c9d0b3adf48195	To provide clinicians who practice in the stem cell transplantation (SCT) setting with practical guidelines for the use of lipid-based amphotericin B (AmB) formulations in @DISEASE$ patients who have documented or probable invasive fungal infections, are experiencing neutropenic @PHENOTYPICFEATURE$, or require secondary prophylaxis for fungal infections.	false
+484f6cad97d2090069802ed2414d57dd4f061297	@DISEASE$ (SCT) is an autosomal recessive disease that is characterized by @PHENOTYPICFEATURE$, and fusions of the vertebrae and carpal and tarsal bones.	false
+e89422ad82cd82affecc23a7fa64eb816ecc2eec	We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, @PHENOTYPICFEATURE$, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent with the diagnosis of @DISEASE$.	false
+86e546734dae47bd9d814e27dd3af8e672261e07	To determine if PCT might be a useful marker of @DISEASE$ in children presenting with @PHENOTYPICFEATURE$ and rash.	false
+f1f79f4d51abaa71db8d48bdfecdcc1fff2bb3a3	Multicentric Castleman's disease (@DISEASE$) is a rare disorder characterized by @PHENOTYPICFEATURE$, polyclonal hypergammaglobulinemia, and generalized lymphadenopathy.	false
+ca97eee769278a5666688d2a77d16fd76b7c01a8	Multicentric Castleman disease (@DISEASE$) is a lymphoproliferative disorder characterized by systemic symptoms like recurrent lymphadenopathy, @PHENOTYPICFEATURE$ and hepatosplenomegaly.	false
+47c343e3b6db55cc588562d941195bdce635aab4	This comparison has never been reported in the differentiation of meningococcal disease (@DISEASE$) in children presenting with a @PHENOTYPICFEATURE$ and rash.	false
+237144b87440c1ab697cfd5515fd82be44101c92	Metaphyseal chondrodysplasias (@DISEASE$) are skeletal disorders characterized by metaphyseal irregularities and, usually, by @PHENOTYPICFEATURE$.	false
+8c609b35ad2328e224eedfc9bfb335b7f3562e31	Schmid metaphyseal chondrodysplasia (Schmid @DISEASE$, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by @PHENOTYPICFEATURE$, bowed legs, and a waddling gait.	false
+e49b2da05a6b6ed3f6bb64e4b5efb2b088b3a961	Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 @PHENOTYPICFEATURE$ show milder phenotypic manifestations and milder @DISEASE$.	false
+71cce38c638fb4f4f141356ff5c08e5bb356fdb5	Cenani-Lenz syndrome (@DISEASE$) is an autosomal recessive @PHENOTYPICFEATURE$ that results in malformations of the distal limb, renal anomalies, and characteristic facies.	false
+d2c76fbb1774562b950a6d262b644cf8a7367a31	Cenani-Lenz syndrome (@DISEASE$) is an autosomal recessive skeletal dysplasia that results in malformations of the distal limb, @PHENOTYPICFEATURE$, and characteristic facies.	false
+ffcbe7196d37e9a3da47e060427a9b1d410a016c	This novel technology has great potential for application in @DISEASE$ because it enables generation of accurate depictions of small target @PHENOTYPICFEATURE$ and increases the surgeon's confidence during the procedure.	false
+29c1d60b4f274868d7c7d14207196fe5ee28ed6a	Familial multiple cafe au lait spots (CLS) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple @DISEASE$ seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest @PHENOTYPICFEATURE$.	false
+551404265677d7360c9ad8d74ffe163a25ac376a	Familial multiple cafe au lait spots (@DISEASE$) represent a rare, autosomal dominant pigmentary disorder characterized by the multiple CLS seen in neurofibromatosis type 1 (NF-1) but differing from NF-1 by the absence of neurofibromas and other neural crest @PHENOTYPICFEATURE$.	false
+b163f98dbc6637b0c77d3061e0f9b677a9c74a28	There were no significant differences in age, gender, disease stage, @PHENOTYPICFEATURE$ location or tumour size between the SILS and @DISEASE$ groups.	false
+e7843064b32f6551cc201764ae2c36839a8da1ad	There were no significant differences in age, gender, disease stage, tumour location or @PHENOTYPICFEATURE$ size between the SILS and @DISEASE$ groups.	false
+c275904ac63395029bb5c038ee925c68ec53e53d	Clinical @PHENOTYPICFEATURE$ size, @DISEASE$, and depth of tumor invasion were independent prognostic factors.	false
+6699f071c4a491934e914c9f2322e1a26e766c91	Clinical tumor size, @DISEASE$, and depth of @PHENOTYPICFEATURE$ invasion were independent prognostic factors.	false
+136980dc50e7ecca27aa565308c892857a5d08a5	We evaluated the invasiveness of LECS in comparison to conventional laparoscopic surgery (@DISEASE$) for endoscopically unresectable colorectal @PHENOTYPICFEATURE$.	false
+6849d0a80995e74561bcc6eb00c623750213288e	The implementation of @DISEASE$ to determine cochlear deficits linked to vestibular schwannoma seems to be medically sensible if the @PHENOTYPICFEATURE$ size exceeds 5?mm.	false
+376822ccdbcee0c9864ef581463802f0bb3c94c1	The groups were matched 3:1 for @PHENOTYPICFEATURE$ size (+/-5 mm), histology, depth of invasion (+/-2 mm), and presence of capillary lymphatic space invasion (@DISEASE$).	false
+e7c0e801f23c458edb98e5035fb95215b5b4842f	In contrast, @DISEASE$ is a well-known side effect of high-dose interleukin-2 (IL-2) therapy in solid @PHENOTYPICFEATURE$.	false
+118e8451ee84581ca905a52effce12d4b1de76dc	Intratumoral injection of @DISEASE$ is safe even with CLS leaks in surrounding normal lung tissues and may be a potent therapy for controlling mediastinal lymph nodes metastasized from lung cancer as well as the primary @PHENOTYPICFEATURE$.	false
+8940ca1e71c64850a89433f0f43fae58b64fe1c9	Intratumoral injection of CLS is safe even with @DISEASE$ leaks in surrounding normal lung tissues and may be a potent therapy for controlling mediastinal lymph nodes metastasized from lung cancer as well as the primary @PHENOTYPICFEATURE$.	false
+e7ac89258d684becc04db441d36ec639632a1159	The findings of present study has resulted in the three dimensional structure prediction and conserved domain analysis which will be quite beneficial in better understanding of molecular components, protein-protein interaction, @PHENOTYPICFEATURE$ and pathophysiology of @DISEASE$.	false
+f9b7d3c4d277bdf07f91950740d71856c49d3ff8	CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or @PHENOTYPICFEATURE$, and Ear abnormalities and deafness) is the second-leading cause of deaf-blindness after @DISEASE$.	false
+7276c48b72fc504bcc87deeb2e376fdbde2ca436	Interaction of MEF2C with the deleted febrile seizure (FEB4) and juveline @PHENOTYPICFEATURE$ epilepsy (EJM4) loci plus the G-protein receptor (GPR98/MASS1/@DISEASE$) gene may moderate the phenotype, perhaps through common regulation by calcium.	false
+fc763a027b452df12f6f3f31927c180bf05737d6	Twenty-six individuals had arRP with RP1 mutations, 25 had @PHENOTYPICFEATURE$ RP (adRP) with RP1 mutation, 8 and 33 had X-linked RP (xlRP) with RP2 and RPGR mutations, respectively, 198 and 93 had @DISEASE$ and arRP without RP1 mutations, respectively.	false
+c462117cd6d99e249c198261ce2245c3090489cb	Two siblings with @DISEASE$ had optic disc mulberry @PHENOTYPICFEATURE$ that were photographically documented over a 5-year period.	false
+a53ed8abe3ffda8582822cca5db4678ce32e33f5	We present a case of @DISEASE$ with a germline deep intronic @PHENOTYPICFEATURE$ in the CYLD gene leading to intronic exonization.	false
+a3c8ef35475f8b5786d0e1ee33fc927274db5c17	We report the atypical phenotype of a boy with @DISEASE$, characterized by mild mental retardation and drug-resistant @PHENOTYPICFEATURE$ with onset at the age of 6 years, without movement disorders nor decrease of head circumference.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+ea7c6122c15b362b60a02d621028b713da34765e	We observed two patients with @DISEASE$ and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic @PHENOTYPICFEATURE$, and congenital diaphragmatic hernia.	false
+0e2f1a457f6f7d23bafaa5ec4639c982d507265a	@PHENOTYPICFEATURE$ and @DISEASE$: another case with long-term follow-up.	false
+e50a50b871dd349a1d460b62cb96d36ad7540646	@DISEASE$ is an autosomal recessive disorder characterized by anterior eye chamber defects, @PHENOTYPICFEATURE$, developmental delay, and cleft lip and/or palate.	false
+65feb411ed4c4ae88b8361c90454ef302682d50c	The presence of a Peters' anomaly, mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of @DISEASE$.	false
+474a78d163cce79e0cadde37f9c1b9e029196861	@DISEASE$ is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, @PHENOTYPICFEATURE$, and developmental delay.	false
+5763cfdfc302ec900c410b867469ed010b3552b6	Features present only in @DISEASE$ are contractures, anomalies of the spine, ribs and pelvis, renal cysts, hydronephrosis, and @PHENOTYPICFEATURE$.	false
+35476400bb937879b8bdac66ae15bc2a45171be6	To examine the occurrence of glioma-related preoperative @PHENOTYPICFEATURE$ (@DISEASE$) and post-operative seizure control (PSC) with respect to patients characteristics including five commonly tested tumor molecular markers (TMMs).	false
+dcf169fdb28dbe0064321b375bdf9facf450c6bd	To examine the occurrence of glioma-related preoperative seizures (@DISEASE$) and post-operative @PHENOTYPICFEATURE$ control (PSC) with respect to patients characteristics including five commonly tested tumor molecular markers (TMMs).	false
+302a447e43b86cbd9df7cbc8943c2d42c48863f4	In particular, significantly higher values of @DISEASE$, reduced hip and knee flexion-extension ROM and abnormal activation of the rectus femoris were observed in individuals with @PHENOTYPICFEATURE$.	false
+69dcd59da6577c5c4b9d29d8f5563e9b53f156be	KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis @PHENOTYPICFEATURE$ syndromes (SBBS) and in the more severe genitopatellar syndrome (@DISEASE$).	false
+791557456e81bb8fc106e115d20f11fe58a309b8	The clinical assessment of @PHENOTYPICFEATURE$ in stroke patients generally includes descriptive scales, such as the Modified Ashworth Scale (MAS) and the Global Pain Scale (@DISEASE$), however these may not be sufficiently sensitive to accurately detect improvements, especially at upper limb level; electromyography (EMG) may be the answer to this clinical requirement.	false
+611778d42c9a9f609b9e0fd28181c9ffff221b42	Genitopatellar syndrome (@DISEASE$) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe @PHENOTYPICFEATURE$.	false
+fbf44bd3d904c06097cb069e846ab8aeb20b8b60	We detected a de novo truncating variant within exon 7 of KAT6B in a 8-year-old female who presented with mild @PHENOTYPICFEATURE$, facial dysmorphisms highly consistent with SBBYSS, and skeletal anomalies including exostosis, that are usually considered component manifestations of @DISEASE$.	false
+5940635a48cada97e0f988d240d2d12d303d48d8	Based on our proband and a recently described group of families with @DISEASE$ and SCN8A variant we suggest expanding testing to patients with infantile epilepsy and no @PHENOTYPICFEATURE$.	false
+8c4df3e10409dd760bbe74ed962e309520be47de	The severity of @PHENOTYPICFEATURE$ was associated with @DISEASE$, as well as the dementia severity in the EPS group.	false
+322e6980ae327596ef794317c7539850b49d5323	Amino acid analysis presents diagnostic values for classic @DISEASE$, but it also should be performed in suspected cases of atypical nonketotic hyperglycinemia and in children with seizures, @PHENOTYPICFEATURE$, behavior problems, and uncoordinated movements.	false
+e05207cf68a38f2690387c8ae5864017f71be3c5	Amino acid analysis presents diagnostic values for classic nonketotic hyperglycinemia, but it also should be performed in suspected cases of atypical @DISEASE$ and in children with seizures, @PHENOTYPICFEATURE$, behavior problems, and uncoordinated movements.	false
+d50614349e71b1c7cea7f29809df7fb385e23332	@DISEASE$, capillary malformation-AVM (CM-AVM), and PTEN tumor @PHENOTYPICFEATURE$ syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs.	false
+5de6e684c0b76f754d583a1bb47ceffd3a28fff8	None of the patients with @DISEASE$ showed abnormal renal function, proteinuria, @PHENOTYPICFEATURE$ or hyperuricosuria.	false
+3f549b45a9678fe9016fbf944100dc1405dcffab	Recognition of low-set or malformed auricles with a unilateral or bilateral conductive hearing loss should alert the otolaryngologist to possible @PHENOTYPICFEATURE$ and other associated @DISEASE$ anomalies.	false
+e6ce0d12b3511c73e5364237537b6a431ba5ee4a	First @DISEASE$ syndromes and associated @PHENOTYPICFEATURE$.	false
+f88dab98047dc3992037388700d0ece191c5080b	Branchio-oto-renal (BOR) syndrome is a developmental complex presenting with various combinations of ear pits, @DISEASE$ cysts, @PHENOTYPICFEATURE$ and renal anomalies, which is inherited as an autosomal dominant trait.	false
+21781a379e2f3a338de75c8f46bfd05ebdab975f	The patient had typical dermatological and skeletal features of @DISEASE$, sparse hair, short stature, mild microcephaly, @PHENOTYPICFEATURE$, and a striking failure of ossification of the interparietal region of the occipital bone, up to the position where transverse occipital suture can be observed.	false
+1c592214e04dbaa265d561fd315b94fc75b2a4a6	An 81-year-old Caucasian woman with bilateral adrenal damage due to @DISEASE$ presented with @PHENOTYPICFEATURE$ and severe hypotension.	false
+0261e50da44c1eda0fb83bb80834824a0b948a66	Spontaneous @DISEASE$ syndrome should be considered in patients with unexplained thrombocytopenia after knee replacement surgery even without heparin exposure, and a high index of suspicion for adrenal hemorrhage is needed in patients with @PHENOTYPICFEATURE$, abdominal pain, and shock.	false
+1ff9837a900e75a8e651325a0eeed31adfb1f3af	However, additional important untoward effects of heparin therapy include @DISEASE$, heparin-associated osteoporosis, eosinophilia, skin reactions, allergic reactions other than thrombocytopenia, alopecia, transaminasemia, hyperkalemia, @PHENOTYPICFEATURE$, and priapism.	false
+a75eeb0f8f74b9217450020325e66c4043826fe9	Patients at higher risk for HIT-associated thrombosis include women, nonwhites, and individuals with current @DISEASE$-associated thrombosis, @PHENOTYPICFEATURE$, or more severe thrombocytopenia.	false
+e9ccb85dbda0019640bd667d9148b35be556c3dc	This case suggests an overlap syndrome with central and peripheral nervous system features of Leber's disease, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7ede09c4e91a8cd8da52ae45c646d535ec605fc1	The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had @DISEASE$ as well as @PHENOTYPICFEATURE$ epilepsy and ataxia.	false
+af952ecc45a476989f77095c5b9f5f1648f98312	Recent advances in the treatment of common disorders, including @DISEASE$, hypo-glycemia in newborns, atopic dermatitis, constipation, cyclic vomiting syndrome, nephrotic syndrome, diabetes mellitus, regurgitation, @PHENOTYPICFEATURE$, secretions in children with cerebral palsy have been reported.	false
+a7d5016e1a9a41682d39176c569a59f840ef3334	Fetal macrosomia and @DISEASE$, cardiomyopathy, @PHENOTYPICFEATURE$, hypocalcemia, hypomagnesemia, polycythemia, and hyperviscosity all can occur as a result of maternal hyperglycemia and are discussed in detail.	false
+8069be76d40893642c051853335890de4d652aed	The neonatal variables studied were: polyhydramnios, gestational age at birth, prematurity, cesarean delivery, large for gestational age (LGA) newborn, macrosomia, Apgar score, @DISEASE$, @PHENOTYPICFEATURE$ and hyperbilirubinemia.	false
+fbf7c56c33d377101e5d96a48ee61fcb051fb22f	Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-@DISEASE$ to @PHENOTYPICFEATURE$.	false
+3d104ebaa2977ffcfd93646ad11c739aec6a2ae1	Interleukin-1-Receptor Accessory Protein Like 1 (IL1RAPL1) gene mutations are associated to cognitive impairment ranging from non-@DISEASE$ to @PHENOTYPICFEATURE$.	false
+b4826e9da68f85bcfa42e4afc13ebd083334fd2b	@PHENOTYPICFEATURE$ epithelia and peritoneal mesothelia from two humans with autosomal recessive polycystic kidney disease (@DISEASE$) were grown in culture.	false
+06112052f93f00c004443b360d49e7366f1f68e6	@PHENOTYPICFEATURE$ epithelia and peritoneal mesothelia from two humans with @DISEASE$ (ARPKD) were grown in culture.	false
+1e2d1860f23c7eac22a2ac06ff31b9c472ea835f	@PHENOTYPICFEATURE$ arising from collecting ducts, congenital hepatic fibrosis, and recessive inheritance characterize @DISEASE$ (ARPKD).	false
+e180d2e0e2a3bffffe3bc6102eb1803081d4b606	@PHENOTYPICFEATURE$ arising from collecting ducts, congenital hepatic fibrosis, and recessive inheritance characterize autosomal recessive polycystic kidney disease (@DISEASE$).	false
+2f4d6f390954aa8f4a65b8900f007c9306916bb8	Autosomal recessive polycystic kidney disease (@DISEASE$) is a severe, typically early onset form of @PHENOTYPICFEATURE$ disease.	false
+7111f66c544f35830cf1c0b52e32c456e24664f9	@DISEASE$ (ARPKD) is a severe, typically early onset form of @PHENOTYPICFEATURE$ disease.	false
+1d37e80663f86e9176fdb346f05f795740b9016e	@DISEASE$ (ARPKD) is a common hereditary @PHENOTYPICFEATURE$ disease in infants and children.	false
+e4122ee4b9a89ca6705aadfca24d1071ce0098a2	Autosomal recessive polycystic kidney disease (@DISEASE$) is a common hereditary @PHENOTYPICFEATURE$ disease in infants and children.	false
+31a2bfbe91569bce68cafaf2f97c4685935829fd	Current models of @DISEASE$ (ARPKD) fail to demonstrate biliary abnormalities in association with @PHENOTYPICFEATURE$.	false
+20edb86e60fc25311c5b9d908e5999be17325a99	Current models of autosomal recessive polycystic kidney disease (@DISEASE$) fail to demonstrate biliary abnormalities in association with @PHENOTYPICFEATURE$.	false
+fb3c447cd51fdf0b311b6aef3725470dc94b3ec8	Autosomal recessive polycystic kidney disease (@DISEASE$) is an important childhood @PHENOTYPICFEATURE$, occurring 1 in 20,000 live births.	false
+5bee5f01843b95e238aac21be1dd6edb9b4b712d	@DISEASE$ (ARPKD) is an important childhood @PHENOTYPICFEATURE$, occurring 1 in 20,000 live births.	false
+7c9208d1aee3741ab26afbdbfbdb15ca8956b65c	@DISEASE$ (ARPKD) is the most common pediatric @PHENOTYPICFEATURE$ disease with liver involvement.	false
+849d25ae8a0247d940d5060a6e734d5752beddab	Autosomal recessive polycystic kidney disease (@DISEASE$) is the most common pediatric @PHENOTYPICFEATURE$ disease with liver involvement.	false
+45c8e041efcd831499f7258be3fd759c7ddec2e4	The patient's end-stage renal disease was secondary to @DISEASE$ (ARPKD), an entity comprised of @PHENOTYPICFEATURE$ and hepatic fibrosis.	false
+ae29824042a059cb7e7780af0f7a3f14d27cb786	The patient's end-stage renal disease was secondary to autosomal recessive polycystic kidney disease (@DISEASE$), an entity comprised of @PHENOTYPICFEATURE$ and hepatic fibrosis.	false
+e155c99a40dd126db975acaea3ef69dcb1e584d1	@DISEASE$ (ARPKD) is a rare hereditary @PHENOTYPICFEATURE$ disease involving multiple organs, mainly the kidney and liver.	false
+f861eb1bfe08afd2407933291b5e90b1cb0e1f61	Autosomal recessive polycystic kidney disease (@DISEASE$) is a rare hereditary @PHENOTYPICFEATURE$ disease involving multiple organs, mainly the kidney and liver.	false
+429e405e4048ecd733f096e74956787052e4cb72	@PHENOTYPICFEATURE$, pancreatic cysts, and biliary disease in a mouse model of @DISEASE$.	false
+17c54cb0cc36631617903986d2df6e2e1134b505	The commonest MCD in the cohort were focal cortical dysplasia (27%), polymicrogyria (PMG) (21%), developmental @PHENOTYPICFEATURE$ (15%), and @DISEASE$ (PNH) (14%).	false
+f54faafa5efa1253b5c48e1469845f2b7dd3ec5e	The diagnosis, treatment, and prognosis of childhood absence epilepsy (CAE) and @DISEASE$ (JAE) were reviewed with reference to 94 patients with @PHENOTYPICFEATURE$ (82 with CAE, 12 with JAE) and the literature.	false
+563db42a121f0c1f295a1a90b769b8b7e6acf4c2	Consecutive patients with @PHENOTYPICFEATURE$ having either childhood absence epilepsy (CAE) or @DISEASE$ (JAE) with generalized spike and wave discharges on electroencephalography (EEG) were included after their consent.	false
+d137942a98af8c4b4765c265975e9825f1f0e370	@PHENOTYPICFEATURE$ associated with @DISEASE$: a clinical and radiographic study.	false
+e4ee2718193ab4dfb72f025dbb200591c41f308c	Poor sleep quality and @DISEASE$ are quite common among patients receiving HD, but these @PHENOTYPICFEATURE$ often go undiagnosed or untreated.	false
+a8784fa645dccdd9faf2cac3e3a54edc9aaf4b02	We investigated whether @PHENOTYPICFEATURE$ and @DISEASE$ associate with motor phenotype in PD, PDD and DLB.	false
+d22e12a1b5a734f65b0c244c6692b56c63495163	In these patients, @PHENOTYPICFEATURE$ manifesting as insomnia, sleep apnea syndrome, restless leg syndrome (RLS), periodic limb movement disorder and excessive daytime sleepiness (@DISEASE$) have been frequently reported.	false
+3c8063583462b120eb0238f2e6d7c247d777a643	At baseline, 44.1% of the entire cohort had @PHENOTYPICFEATURE$; among those who identified as sexually active at baseline, 26.1% had @DISEASE$.	false
+4447ca561e55b21924abb86a74ff3e0bf6f924a1	Candidate predictors included index hospital structural characteristics such as ownership, teaching affiliation, trauma @PHENOTYPICFEATURE$, and index ED size, along with index visit patient characteristics of demographic information, day of service, against medical advice or eloped disposition, insurance, and @DISEASE$ primary discharge diagnosis.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+d48ca3a865b69458ae903dc877b60fa32727a87c	This group includes oculo-cutaneous @PHENOTYPICFEATURE$, Ch?diak-Higashi syndrome, aplasia cutis congenita, @DISEASE$ (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica.	false
+73d08188743999fc3b8ab511ce1eb8dfb2603fbd	Patients with multiple sclerosis (MS) report @PHENOTYPICFEATURE$ (SD) and excessive daytime sleepiness (@DISEASE$) more frequently than the general population.	false
+a925ded2e8c10495f594a13038cf21921700d0be	In both patients, nerve conduction velocities demonstrated conduction block across the brachial plexus and recovery was incomplete, indicating that @PHENOTYPICFEATURE$ is a serious complication of @DISEASE$.	false
+12f04318dac9c8e3f3503fd11f5f48d9446b7c80	We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular @DISEASE$, Marfan syndrome, @PHENOTYPICFEATURE$ Type I, and Loeys-Dietz syndrome.	false
+913b33e7acfb2ed4c5bdc499a2e0c30f3043c4fe	Also under investigation are a number of mouse models based on genetic variants associated with @PHENOTYPICFEATURE$ or @DISEASE$ disorders with autistic features.	false
+33250a6e8dc625ff67394182e7a67d09e6f5f8a1	Compound heterozygous HAX1 mutations in a Swedish patient with @DISEASE$ and no @PHENOTYPICFEATURE$.	false
+10a9151c39baea5bf408f0cf43a4c03e5f338541	@PHENOTYPICFEATURE$ associated with @DISEASE$ due to the R86X mutation in the HAX1 gene.	false
+345601e4579abd22bf9140f630d067f25b1d24e9	A novel compound heterozygous HAX1 mutation in a Chinese patient with @DISEASE$ and chronic myelomonocytic leukemia transformation but without @PHENOTYPICFEATURE$.	false
+255e48b41b745c792110786d3a3c41d47eaf7884	These findings suggest that the R86X mutation in the HAX1 gene is an abnormality in Japanese @DISEASE$ patients with HAX1 deficiency and may lead to @PHENOTYPICFEATURE$ and severe myelopoietic defects.	false
+6b5764201938a9e0bad3ef07c6e5922e6911444d	We report on a 4 1/2-year-old girl with clinical features of @DISEASE$ (THS), including a prominent forehead with a widow's peak, heavy and broad eyebrows, hypertelorism, long palpebral fissures, ptosis, a @PHENOTYPICFEATURE$, a grooved chin, and a left preauricular cyst.	false
+0d53b5bceb7127487ef35909313ecfa9c9f13ac8	@DISEASE$ (AgP) patients exhibited higher dental @PHENOTYPICFEATURE$ levels and worse oral health-related quality of life (OHRQoL) compared to controls.	false
+23aad9b4fda234d970194d33d59c90c991eaf996	Inactivating mutations in three members of the SLC12 gene family result in Mendelian disease; Bartter syndrome type I in the case of SLC12A1, @DISEASE$ for SLC12A3, and @PHENOTYPICFEATURE$ in the case of SLC12A6.	false
+55d811f15e334aba2755a15006b8c1d8e5dcd18d	Multiple squamous cell carcinomas can be related to: xeroderma pigmentosum, Ferguson-Smith, Muir-Torre syndrome, Mibelli-type porokeratosis, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Rothmund-Thomson syndrome, Bloom syndrome, and @DISEASE$.	false
+1a908c63d081092ca701fc9d1cc13401a0be6079	@DISEASE$ (EV) is a genodermatosis characterized by @PHENOTYPICFEATURE$ of flat warts, pityriasis versicolor-like lesions and an increased propensity for developing cutaneous squamous cell carcinomas due to abnormal susceptibility to infection with beta-human papilloma viruses.	false
+7062d566f3f7dcfb5f464c70d2da31ba022e2195	The patients did not display many of the features described as typical for @DISEASE$ myeloma: in particular younger age group, decreased survival and increased incidence of lymphadenopathy, hepatosplenomegaly, extraosseous disease, @PHENOTYPICFEATURE$, renal failure and hypercalcemia.	false
+21a07537b62847c580bb1ca1a1efd04408c8d5b1	@DISEASE$ is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone abnormalities, hearing loss, synkinesia, @PHENOTYPICFEATURE$, poor balance due to cerebellar ataxia, etc.	false
+40442272feb903df28d5e11b46738f97c7a2b519	The incidences of @DISEASE$ and @PHENOTYPICFEATURE$ are negatively related.	false
+d28ce5c212ce822357b47e25a1098ffc4094086f	We report an extremely rare case of a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$ due to gross abnormalities affecting both middle ear and cochlea.	false
+ec40b0e106a16eeb5d72ad869d78fb857c69b11a	The percent prevalence of @PHENOTYPICFEATURE$ and @DISEASE$ in males for the three ethnic groups were apparently quite similar.	false
+6ddb8cf72d291958207585ee4e82fa82d3d0f598	Prevalence of @PHENOTYPICFEATURE$ and chronic energy deficiency (@DISEASE$) in adult Malaysians.	false
+d3f49e38eb94e6a8250d05bd1b4201e2cebef0b4	We investigate the nutritional status of women in India and its relation to the prevalence of chronic energy deficiency (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+736adc9542f28201a5369195460e7eb24ed72c82	This study attempts to understand the factors associated with chronic energy deficiency (@DISEASE$) and overweight/@PHENOTYPICFEATURE$ together with change in CED and overweight/obesity among urban Indian women during 1998-2006.	false
+a397344a9ec7da5f76d8c66e2c5fb3ecdbe1b27d	This study attempts to understand the factors associated with chronic energy deficiency (@DISEASE$) and overweight/obesity together with change in CED and overweight/@PHENOTYPICFEATURE$ among urban Indian women during 1998-2006.	false
+e21e2a2d4053f28f2b9f407ddb0a847db413a399	This study attempts to understand the factors associated with chronic energy deficiency (CED) and overweight/obesity together with change in @DISEASE$ and overweight/@PHENOTYPICFEATURE$ among urban Indian women during 1998-2006.	false
+7b6ab4858686799604d559d2be5ba4a4c8104d1f	This study attempts to understand the factors associated with chronic energy deficiency (CED) and overweight/@PHENOTYPICFEATURE$ together with change in @DISEASE$ and overweight/obesity among urban Indian women during 1998-2006.	false
+9ae75b497b24fe09b2bc72dc217939d74d385192	The data reveal that the prevalences of @DISEASE$, overweight, and @PHENOTYPICFEATURE$ in India are 31.2%,	false
+f9950158191f83d97e442b635990744af0f0959f	Compared with a national sample of Indigenous Australians, our sample has a higher prevalence of @DISEASE$ and a lower prevalence of @PHENOTYPICFEATURE$.	false
+414beea750447705837f8cd0033d9d5ae6683390	Generalized Estimating Equation (GEE) was used to assess the maternal nutrition conditions, including chronic energy deficiency (@DISEASE$) and overweight/@PHENOTYPICFEATURE$.	false
+7a03d93f990952f9b8ebb9beeccd5ab3b47a0859	The prevalences of @DISEASE$ and @PHENOTYPICFEATURE$ were also compared to the corresponding values from a national Indigenous sample.	false
+595bad440f1f4744d150e0343908c379889a5e9e	Peripheral primitive neuroectodermal tumor is thought to be identical to Ewing's sarcoma, and falls under a broader category of @DISEASE$ family of @PHENOTYPICFEATURE$.	false
+e74e4418fc91bdd635e958b088b9d0b07d92c8a4	@DISEASE$ is thought to be identical to Ewing's sarcoma, and falls under a broader category of Ewing's sarcoma family of @PHENOTYPICFEATURE$.	false
+ce67726384fd11b49a05febcf73f9ae94f17f364	Peripheral primitive neuroectodermal tumor is thought to be identical to @DISEASE$, and falls under a broader category of Ewing's sarcoma family of @PHENOTYPICFEATURE$.	false
+ae93dc19d9afd2c49bd1c9b0901259bf7af60a04	@DISEASE$ and Ewing-like @PHENOTYPICFEATURE$.	false
+1b6ba17c8d951bbc38176e60291add49ca1fd502	@DISEASE$ family @PHENOTYPICFEATURE$.	false
+26ed404e346c167f495bc762ee1a31d8333d39fa	We report a case of @DISEASE$ of ilium in an 18-year-old female mimicking clinically and radiologically inflammatory @PHENOTYPICFEATURE$ of hip joint, a rare entity not mentioned in literature.	false
+b57043f3112f5d3847d2bd448d723037cd81d65c	A total of 412 lesions were characterized by imaging in 64 patients (20, @PHENOTYPICFEATURE$; 44, @DISEASE$).	false
+25dc8c0314804deabbb85d74066675a464d40fee	Ewing sarcoma and peripheral primitive neuroectodermal tumor belong to the @DISEASE$ (ES) family of @PHENOTYPICFEATURE$ originating from a primitive neural tube.	false
+18d08c2476d5db2c40892edd8f7cd477e48957cd	Ewing sarcoma and @DISEASE$ belong to the Ewing sarcoma (ES) family of @PHENOTYPICFEATURE$ originating from a primitive neural tube.	false
+3750ff5be9ce5b1c2e7b669413e92cdcae8efc07	@DISEASE$ and peripheral primitive neuroectodermal tumor belong to the Ewing sarcoma (ES) family of @PHENOTYPICFEATURE$ originating from a primitive neural tube.	false
+13ee8a6a7ef85cb653764011a84c9fc8b7603e62	@DISEASE$ is a rare and aggressive @PHENOTYPICFEATURE$ which classified as peripheral primitive neuroectodermal tumor.	false
+774b8b6dde131013fe2ca12d3ef4e56861118a95	Ewing's sarcoma is a rare and aggressive @PHENOTYPICFEATURE$ which classified as @DISEASE$.	false
+0cbc81f0bec01200b736c3ad3b07fc666dab354e	The Ewing's sarcoma family of @PHENOTYPICFEATURE$ (ESFT) includes Ewing's sarcoma (ES), Askin's tumor of the chest wall, and @DISEASE$.	false
+30577eaa5000d459d955d1f28de8c8cbabd578a6	The Ewing's sarcoma family of @PHENOTYPICFEATURE$ (ESFT) includes @DISEASE$ (ES), Askin's tumor of the chest wall, and peripheral primitive neuroectodermal tumor.	false
+56238e5385faa3b7955b9bdc121ada89cc816ab1	The @DISEASE$ family of @PHENOTYPICFEATURE$ (ESFT) includes Ewing's sarcoma (ES), Askin's tumor of the chest wall, and peripheral primitive neuroectodermal tumor.	false
+1ae81b2631f2e7d14eeac8372be383b398c0faad	@DISEASE$ family of @PHENOTYPICFEATURE$.	false
+c292569dab18fb003780bbaded461140e846e68a	For patients presenting with congenital hemiparesis, negative or positive @PHENOTYPICFEATURE$, and absences and focal motor seizures with @DISEASE$/CSWS, unilateral PMG should be considered.	false
+d6267a46b3b9ef93abb5a9ad53f826d37a1fb72f	In its severe form, @PHENOTYPICFEATURE$ and @DISEASE$ are present, owing to increased secretion of the sodium-retaining corticoids, corticosterone and deoxycorticosterone.	false
+eff6055fddf034d4295102d3bcf743d57f078aa0	Hyperuricemia due to the decreased renal uric acid clearance is associated with @PHENOTYPICFEATURE$, hypothyroidism, hyperparathyroidism, central diabetes insipidus, nephrogenic diabetes insipidus, @DISEASE$, and diabetic ketoacidosis.	false
+a9971b6e4570165118a50ea1868fb762c26eb873	The proband with the severe form had @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d6267a46b3b9ef93abb5a9ad53f826d37a1fb72f	In its severe form, @PHENOTYPICFEATURE$ and @DISEASE$ are present, owing to increased secretion of the sodium-retaining corticoids, corticosterone and deoxycorticosterone.	false
+1b3a3eeb2cc4f684fa1b62c40f2fde2cd4c4f367	Generally speaking the psychic disorders, such as personality deviation and psychotic episode, seem to by very important symptoms in patient with @DISEASE$ as well as in patient with hypocalcemia or @PHENOTYPICFEATURE$.	false
+8c8ef0868f2b7401b9f5b988ad5aec6e31116f16	Anaesthetic management of a patient with @DISEASE$ for craniotomy and @PHENOTYPICFEATURE$ excision.	false
+351e809565461edc34ccc7a0468af6eeb8c29d7d	RESULTS.: In 19 patients (2.3%), a final diagnosis other than myocardial infarction was established: coronary aneurysm (n=1), (myo)pericarditis (n=5), cardiomyopathy (n=2), @DISEASE$ (n=1), aortic stenosis (n=1), aortic dissection (n=3), subarachnoidal haemorrhage (n=2), pneumonia (n=1), chronic obstructive pulmonary disease (n=1), mediastinal @PHENOTYPICFEATURE$ (n=1), and peritonitis after recent abdominal surgery (n=1).	false
+dc6dca60a430e944452c62df38249ff6f36568d8	During examinations for @DISEASE$, a @PHENOTYPICFEATURE$ in the apicoposterior segment of the left lung was incidentally detected by chest computed tomography.	false
+672317c16f296ebfab7c22bfa12dbb91ca482143	Although rare, @DISEASE$ is usually advanced at presentation and has a @PHENOTYPICFEATURE$ prognosis in the Saudi population, like in other populations.	false
+58c8b12b29bf17ba02055aac3ce02056fa6779a9	Patients who present with stages 1 to 3 @DISEASE$ have the best visual prognosis, and patients with stages 4 and 5 have a @PHENOTYPICFEATURE$ prognosis.	false
+a1b174467aea61707a7f716dd157f1e8f471407f	Three patients with polypoidal choroidal vasculopathy are described with @PHENOTYPICFEATURE$ secondary to irregular choroidal vascular lesions producing recurrent subretinal hemorrhages and @DISEASE$.	false
+0444c2bf083ba0cdbe19cca07180eabe2e718f84	The differential diagnosis includes retinopathy of prematurity, primary hyperplastic primary vitreous, @DISEASE$, peripheral @PHENOTYPICFEATURE$, retinoblastoma, and Norrie's disease, but this differentiation can usually be made on the basis of clinical findings alone.	false
+226400ca808b0e97f8b790c4b40dbe48c531d2d9	We found that RVPTs can develop in patients with NF1 and can cause @DISEASE$, vitreous hemorrhage, and @PHENOTYPICFEATURE$.	false
+26d7299b6efbadcb9a3375aca0a200f66511619c	@DISEASE$ must be considered as a chronic disease, which necessitates a very long-term follow-up even in the absence of subjective @PHENOTYPICFEATURE$.	false
+a8e6db28e07317f6270f2f6886f3c7b064c3a190	Among the defects presented are anophthalmia and @PHENOTYPICFEATURE$, coloboma, persistent hyperplastic primary vitreous, @DISEASE$, vascular malformations, encephalocele and nasolacrimal mucocele.	false
+0a717faf6a9d4fa31504a237ca88b275cd0b6891	Coats-like @DISEASE$ may result in permanent @PHENOTYPICFEATURE$ if left untreated.	false
+b924b9ca14e28b38b25c4f07f82f56230847f3df	Clinicians should be aware of this potential complication of @DISEASE$ as it denotes a @PHENOTYPICFEATURE$ prognosis.	false
+f3ff66ec05749d33960e5bd4aadb4890cdd05ecc	Compared to adult type of @DISEASE$, this type was characterized by early onset, severe macular lesion, rapid progression and @PHENOTYPICFEATURE$ prognosis.	false
+1532895676187bc31efc4fd92629799105d10915	Ichthyosis, brittle hair, impaired intelligence, decreased fertility and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+ab8ea8e45d74ea8ee3851949bdd775cb7e70163d	In @DISEASE$, the trichothiodystrophy is accompanied by congenital ichthyosis, @PHENOTYPICFEATURE$, delayed physical and mental development and pyramidal tract signs with increase in muscular tone and brisk tendon reflexes.	false
+095b6f5110b239220ab428e83226993b65b19677	We describe a 9-year and 10-month-old white boy whose clinical features resemble the @DISEASE$ (ichthyosis, brittle hair, cataracts, and @PHENOTYPICFEATURE$), but who also has marked axial osteosclerosis and peripheral osteopenia.	false
+8955377d312162f11465505f6f8ebf2d105cf47c	Trichothiodystrophy is clinically associated with photosensitivity (P), ichthyosis (I), dry, brittle hair (B), intellectual impairment (I), decreased fertility (D) and @PHENOTYPICFEATURE$ (S), which accounts for the acronym PIBIDS or @DISEASE$, depending on whether photosensitivity is involved or not (actually in about 50 p. 100 of cases).	false
+618610d11c88783bd6d0ca0186d93e381dd06b27	The most typical clinical triad includes hypertelorism, @DISEASE$ or @PHENOTYPICFEATURE$ and aortic aneurysm with tortuosity.	false
+83694a2482ef6115a4778120001d801bb91f495f	Submucous @PHENOTYPICFEATURE$ with @DISEASE$.	false
+bfce12783d6f9c232311777ad221852454f204d7	Facial features include: a flattened midface with broad nasal bridge, @PHENOTYPICFEATURE$ or @DISEASE$ and synophrys.	false
+8d6ce339e27c46cb016fa91392a9db464649ca64	Two of those lesions were associated with other anomalies (complete @PHENOTYPICFEATURE$ and hemifacial macrosomia or submucous cleft palate with @DISEASE$).	false
+61bb6e443f6fe9e20cc5c66af13ab6a8f35ec7f8	Two of those lesions were associated with other anomalies (complete cleft palate and hemifacial macrosomia or submucous @PHENOTYPICFEATURE$ with @DISEASE$).	false
+66fc9eff4c106854aaaf62891035672e706a8721	Patients with LDS may manifest hypertelorism, @DISEASE$ or @PHENOTYPICFEATURE$, and arterial tortuosity.	false
+5eddda04a57d733d4b0292cf60b791dc44137d05	There were seven subjects with @DISEASE$ and five subjects with submucous @PHENOTYPICFEATURE$.	false
+6c5464e062b288f029ddc792188a68ea35004afe	@PHENOTYPICFEATURE$ and @DISEASE$ are other possible features in the oral cavity.	false
+0fa3cf665b98ffe5bd59bcdd8ce3db3d1929cf8a	In addition, 3 unrelated cases had incomplete cleft palate, submucous @PHENOTYPICFEATURE$, and @DISEASE$, respectively.	false
+8d7eb91414985bf1379a01fd61cb824a03585a75	In addition, 3 unrelated cases had incomplete @PHENOTYPICFEATURE$, submucous cleft palate, and @DISEASE$, respectively.	false
+29b2d93e74d0435024ef9d2398e9ddf8680059bc	@DISEASE$ is a malformation that is often considered a microform cleft palate or a marker for submucous @PHENOTYPICFEATURE$.	false
+2270ece80b8f4ad591d944ac29ff11d32b6ccddc	@DISEASE$ is a malformation that is often considered a microform @PHENOTYPICFEATURE$ or a marker for submucous cleft palate.	false
+a68e756be9541687b766bb7b3f5d030e65ba8f2f	Clefting of the palate may be complete or incomplete (@DISEASE$, submucous @PHENOTYPICFEATURE$).	false
+88709154549890297039b99cbcc69f2dd8be9da2	Among the patients with lesions, we observed seven cases of submucosal @PHENOTYPICFEATURE$ in small intestines, five cases of small intestinal carcinoma, two cases of small intestinal polyps, two cases of small intestinal roundworm, eight cases of small intestine ulcer, one case of Crohn's disease, 18 cases of enteritis, two cases of small intestine diverticula, four cases of @DISEASE$, one case of small intestine vascular malformation, one case of intestinal lymphangiectasia, one case of small intestine compression, two cases of small intestine hemorrhage, and two cases of small intestinal lipoma.	false
+7c9a7f0b9e7b5df429b2ac0db9655e274178295e	Structural and functional @PHENOTYPICFEATURE$ have been reported in many psychiatric disorders, namely schizophrenia, bipolar disorder, major depressive disorder, anxiety disorders, dementia and @DISEASE$.	false
+b3cdf2bf8203ea6783cf6f47d2f4de4e6393ce06	The possible significance of these results for two clinical disorders, early @PHENOTYPICFEATURE$'s disease and @DISEASE$ is discussed.	false
+604bc22e34788eb4b6afc2649dca8fa73fe8948f	These disorders include infantile autism, Williams' syndrome, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3722a09ec9d45ff843e9a989d7cebd2ac1cf4a7d	In the study group, one child was born with a major congenital malformation (@PHENOTYPICFEATURE$), and four children subsequently demonstrated neurodevelopmental abnormalities, including epileptic disorder (n = 1), @DISEASE$ (n = 3), motor difficulties (n = 3) and speech difficulties (n = 1).	false
+5fef2f8fe05251f4e447ed3ae82f2c5d410f5d70	@DISEASE$: diagnosis and treatment masking the ophthalmic clinical presentation of a pineal gland @PHENOTYPICFEATURE$ in a teenager.	false
+582f0ab348f41a390602e66977ab90064c78ae33	The similarities between this primate model and the cognitive/behavioral deficits associated with early @PHENOTYPICFEATURE$'s disease and @DISEASE$ suggest that this may be a useful model for testing hypotheses concerning the pharmacological treatment of these disorders.	false
+45c9d34d16ee05d7ce54d560321232313e33b233	MRI studies of children with @DISEASE$ (ADHD) have consistently attributed core deficits of inattention and impulsivity to frontal-striatal-@PHENOTYPICFEATURE$; however, no study has investigated the neuroanatomical characteristics of children with ADHD and Conduct Disorder (CD).	false
+506a867f44bdedf22a5427242eb02060130ff524	Children with @PHENOTYPICFEATURE$ only (CPO) had risk increases for the same diagnoses as children with CL and CLP, but with higher hazard ratios, and also for psychotic disorders, @DISEASE$ (ADHD), and other behavioral or emotional disorders in childhood.	false
+6d9ec9547120706de77d50e6fde2d68da82844d6	The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0.1 percentile), @DISEASE$, and mild @PHENOTYPICFEATURE$.	false
+4d8fefd633f1afe153811dd3ed99218609f7b24a	Deregulation of the dopaminergic system has been linked with Parkinson's disease, Tourette's syndrome, schizophrenia, @DISEASE$ (ADHD) and generation of pituitary @PHENOTYPICFEATURE$.	false
+b282098bc1831014a2196d8b73c3454dfced79bd	@PHENOTYPICFEATURE$ and @DISEASE$ scalp.	false
+a04e754076f8e460e82b467f73438cb0dbb64cc2	The proportion of sporadic cases including WAGR (Wilms tumour, Aniridia, @PHENOTYPICFEATURE$, Mental Retardation) and @DISEASE$ (aniridia, cerebellar ataxia and mental retardation) was 48%.	false
+f6bedfc179b8a40bdff40feb48069187f0f8c5f0	We found two heterozygous missense mutations associated with a phenotype, one in a man with @DISEASE$ and another in a father and his daughter, who both have the heart defect characteristic of EvC and polydactyly, but not @PHENOTYPICFEATURE$.	false
+4ccfb09bbd6287b2d6a859b9b5bad4a74ca2cb4d	Current findings expand the Ellis van Creveld syndrome and @DISEASE$ @PHENOTYPICFEATURE$ spectra, and provide further evidence that the last exon of EVC2 gene is a hot spot for Weyers acrofacial dysostosis mutations.	false
+e19a95a53652a78fe025f6a6ae1a4057bcf24ccf	Current findings expand the Ellis van Creveld syndrome and Weyers acrofacial dysostosis @PHENOTYPICFEATURE$ spectra, and provide further evidence that the last exon of EVC2 gene is a hot spot for @DISEASE$ mutations.	false
+ca8c1dea4abe5d157f6efec30a9eae0edd00e65b	This case describes a patient whose corneas present features of both keratoconus and @DISEASE$ and is unique due to the presence of increased corneal thickness despite the absence of @PHENOTYPICFEATURE$.	false
+ea577034b9ba224dccc4d8faa1703d325bd78782	We describe the case of an 8-month-old boy with congenital corneal epithelial @PHENOTYPICFEATURE$ due to @DISEASE$ who was treated successfully with bilateral DSAEK.	false
+c51e13da5d1b8a2cabab111ce1bdd4862e6beb11	not only allowed the identification of genes involved in the @DISEASE$ and in the vulnerability to bipolar disorders, but also the identification of genes implicated in tuberous sclerosis, in polycystic kidney disease, in cataract with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of @PHENOTYPICFEATURE$ and mental retardation.	false
+f9cbb8dd2391409681d2aafb56feb5e881702580	The @PHENOTYPICFEATURE$ and suspected brain malformation were detected on prenatal ultrasound prior to confirmation of the diagnosis of @DISEASE$ in one case; in the other case prenatal records were not available.	false
+3021cd53f2af3c976d5c74c3f02521b8f8598443	Organ-specific variables associated with prolonged survival in patients undergoing primary tumor resection included the following: low grade for all organs; young age for pancreatic, small intestinal, colonic, and rectal neuroendocrine tumor; tumor size for colonic and rectal neuroendocrine tumor; and @PHENOTYPICFEATURE$ location for @DISEASE$.	false
+814afb586955ac574844f79935ecaac94d9cf520	Organ-specific variables associated with prolonged survival in patients undergoing primary tumor resection included the following: low grade for all organs; young age for pancreatic, small intestinal, colonic, and rectal neuroendocrine tumor; @PHENOTYPICFEATURE$ size for colonic and rectal neuroendocrine tumor; and tumor location for @DISEASE$.	false
+3e7391da88d4bad2fc4378ae27dd56f0303da98a	Organ-specific variables associated with prolonged survival in patients undergoing primary @PHENOTYPICFEATURE$ resection included the following: low grade for all organs; young age for pancreatic, small intestinal, colonic, and rectal neuroendocrine tumor; tumor size for colonic and rectal neuroendocrine tumor; and tumor location for @DISEASE$.	false
+b36917da143f3d1c9f337344cae9644b89eb3456	@DISEASE$ (NENs) are relatively rare @PHENOTYPICFEATURE$ with an incidence rate of 0.11-0.21/100,000.	false
+0c7f0ef92d56f5685315277e3781c18b3e9baa71	Syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and Sprengel anomaly with autosomal dominant inheritance.	false
+b909f27175056ee32c838a6c7111a1a22bd8f963	We report a @PHENOTYPICFEATURE$, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, @DISEASE$, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	false
+0dece5be40336215be4ad0c48c55e81882ed39f8	We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, @PHENOTYPICFEATURE$, @DISEASE$, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome.	false
+a8c0abdcb0fbcfdc9ed8d940174ecb106ccd0f04	The patients showed various combinations of the following malformations and anomalies: spontaneously arrested communicating hydrocephalus, @DISEASE$, Sprengel anomaly (undescended scapula), @PHENOTYPICFEATURE$, broad and low nasal bridge, anteverted nostrils, low-set ears, high-arched palate, prominent mandibula, enamel hypoplasia and increased interspace between the 1st and 2nd toes.	false
+a5f6825b5c741a64a1b85930046ebae049b8498a	@DISEASE$ and @PHENOTYPICFEATURE$ in one dizygotic twin.	false
+2e32ff128e28b294ff74ac13f15ccd55317351d6	@PHENOTYPICFEATURE$ are occasionally complicated by @DISEASE$.	false
+86082cfebf7b3a615fa2278c601b3685ca5a571f	Reported findings associated with @DISEASE$ include @PHENOTYPICFEATURE$, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects.	false
+ead3537798fc106744d87ddca55d9afb7265419b	@DISEASE$ (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, @PHENOTYPICFEATURE$, congenital cardiac abnormalities, and extremity malformations.	false
+bfd3ae054fb824e46626b0093fb7c649d3bf6a13	@DISEASE$ (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital @PHENOTYPICFEATURE$, and extremity malformations.	false
+1658676d0c214a79e5a5850b1f32221f5a32a57e	@DISEASE$-like @PHENOTYPICFEATURE$ and metastatic melanoma of unknown primary site: friends or foes?	false
+b7c1703565edd9f5863496a9a0470a541675a9f9	@DISEASE$-like @PHENOTYPICFEATURE$ associated with imiquimod treatment of genital warts.	false
+b552b365c6b7ad8070447bcf8088365f8ee1392a	A patient with histopathologically verified @DISEASE$ (CJD) presented initially with diplopia, @PHENOTYPICFEATURE$, and L-dopa-responsive parkinsonism.	false
+047601c6628f0e5dc96ec79ad8e10e4f25e16551	Prion-related @PHENOTYPICFEATURE$ in @DISEASE$.	false
+bdae7362969f95a12b6cb5701d8f3ac7c9c889b3	Severe and rapidly evolving @PHENOTYPICFEATURE$ revealing @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+6eb13387f37d65887edd58cfa5f83884ce759dbc	Arterial @PHENOTYPICFEATURE$ and intrapulmonary shunts were diagnosed in 17.5% of this cohort of children with cirrhotic or noncirrhotic CLD representing the classic @DISEASE$.	false
+a804cdbdf6bf6842f0347325718ed53f5cba917d	Hepatopulmonary syndrome (@DISEASE$) is characterized by the presence of liver disease, arterial @PHENOTYPICFEATURE$ and intrapulmonary vascular dilatation (IPVD).	false
+98ba1b9e24869b43904afca03fe43675b79304cc	The hepatopulmonary syndrome (@DISEASE$) is characterized as a triad: liver disease, intrapulmonary vascular dilatation, and arterial @PHENOTYPICFEATURE$.	false
+65272513137955a373b378fdcb232e9201f87b11	Hepatopulmonary syndrome (@DISEASE$) is defined by the presence of the triad of liver disease, arterial @PHENOTYPICFEATURE$, and intrapulmonary vascular dilatation.	false
+3ddaba4bc0573c991e0ba7909e70dee502bc3ec3	The hepatopulmonary syndrome (@DISEASE$) is defined as a triad of liver dysfunction, intrapulmonary vascular dilatations (IPVD) and arterial @PHENOTYPICFEATURE$.	false
+eaaf8850850f5286c9426b03bcec0ccd01ade3de	Hepatopulmonary syndrome (@DISEASE$) is a triad of advanced liver disease, intrapulmonary vasodilatation (IPVD), and arterial @PHENOTYPICFEATURE$.	false
+43e0b2deb02b8b5b23b082f228a4700840db0bc7	In addition, higher pulse oximetry thresholds reliably identified @DISEASE$ patients with less severe @PHENOTYPICFEATURE$, albeit with lower specificity.	false
+65be75c43ad229c18eb2837878c27d08d6d9f0bb	Hepatopulmonary syndrome (@DISEASE$) is a triad of advanced liver disease, intrapulmonary vasodilatation and arterial @PHENOTYPICFEATURE$.	false
+47209df77e37118160c771bf5be0152a616deea5	Hepatopulmonary syndrome (@DISEASE$) is a pulmonary complication characterized by a triad of chronic liver disease, arterial @PHENOTYPICFEATURE$, and pulmonary vascular dilations.	false
+bcaa833efed7d7e948bf9afd026740df200dd5c7	The @PHENOTYPICFEATURE$ showed the typical histology of @DISEASE$.	false
+bcba17083dcd501b28a4adc2f3c489453cc9a890	The @PHENOTYPICFEATURE$ was resected and the diagnosis of @DISEASE$ confirmed.	false
+e94fecedfe9641c99b4637a275268784cf6b2a3b	Histologically, the @PHENOTYPICFEATURE$ was diagnosed as a @DISEASE$.	false
+3a2df36a9acd20a1a691a435b41bb75bf74d5b45	Spinal @DISEASE$ originating from the film terminale are rare @PHENOTYPICFEATURE$.	false
+92873b1467e98f7563302804aa3e4ee91b1aeb09	Histological examination revealed the @PHENOTYPICFEATURE$ to be a characteristic @DISEASE$.	false
+54701eb02e7373b6b473d3eda76907202d5a80a5	Pathologic examination of the @PHENOTYPICFEATURE$ revealed a @DISEASE$.	false
+d3f9be8c6e6111419135117ede6e277cf0c2970e	Spinal @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+91beec41e0cfdc947969380e14682a5b173b64a1	Renal @DISEASE$ (RH) is an extremely rare and newly recognised @PHENOTYPICFEATURE$.	false
+2cfaede30a56805c740dcb932ac21dd949aadd78	Histopathologically, the @PHENOTYPICFEATURE$ was @DISEASE$ (solid type).	false
+0f2a327dfd995f7bfae192d1b72d04104c2fb081	Pathological examination of the @PHENOTYPICFEATURE$ revealed a @DISEASE$.	false
+302946d73e85586515e5e7f416b2ff1bc48de41f	An unknown etiology differing from other cases of @DISEASE$ type 3 might have caused not only @PHENOTYPICFEATURE$ and hypoplasia of the cerebellum and brainstem, but also cerebral and visceral malformations.	false
+d53168d37fca0367e90aa1150f378a6700ece058	The mitochondrial protein SLC25A46 has been recently identified as a novel pathogenic cause in a wide spectrum of neurological diseases, including inherited @PHENOTYPICFEATURE$, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital @DISEASE$.	false
+4c33292ddf344d5ef84ba0fb01ca11aeaa478f3c	In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by @DISEASE$ and apnoea, we discovered a missense mutation and an exonic deletion in the SLC25A46 gene encoding a mitochondrial protein recently implicated in @PHENOTYPICFEATURE$ spectrum disorder.	false
+50bc0a66fcf0fcdc10af176d261a74bc8ce8c3e4	Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with @PHENOTYPICFEATURE$ type VIB (OMIM: *610826) and congenital lethal @DISEASE$ (PCH).	false
+e88aba4efe3c530af4d35cffb4367f2c331e664b	He was treated empirically for atypical pneumonia, and after resuming furosemide for fluid excess, he developed @DISEASE$, worsening rash, @PHENOTYPICFEATURE$ and eosinophilia of 2,394 cell/?L.	false
+6267ec74cded66bf02ecf6afaac0a68908399b65	The major nutritional disorders in @DISEASE$ patients are hypercatabolism, @PHENOTYPICFEATURE$, and hypertriglyceridemia.	false
+3658505fe24d3b5d814142940c0d637d8d6347ed	Leptospirosis should be considered in all patients who present with @PHENOTYPICFEATURE$ and @DISEASE$, especially if associated with thrombocytopenia or travel to an endemic area.	false
+c5453a22252499bb1c5da08477416b68c951a2c3	The other etiologies of @PHENOTYPICFEATURE$ and @DISEASE$ were ruled out.	false
+13187ac653c531e1996831393eea7977a1a80648	Acute PD remains a viable option for the treatment of selected patients with @DISEASE$, particularly pediatric population, and those who are hemodynamically compromised, have severe coagulation abnormalities, difficulty in obtaining blood access, removal of high molecular weight toxins (> 10 kD), and clinically significant hypothermia and @PHENOTYPICFEATURE$.	false
+4636147f960f70ac1cf0ca6d45a3dcc2eb8d71fd	On history and physical examination, risk factors for @DISEASE$ were age, absence of @PHENOTYPICFEATURE$, higher heart rate, lower diastolic blood pressure, icterus, and hepatomegaly.	false
+51299387bea4e66e6fc95a0a6e71521ccd4e6689	In fact, due to both the acute loss of the kidneys' homeostatic function, and the frequent need of RRT, patients with @DISEASE$ are especially prone to @PHENOTYPICFEATURE$ and hyperglycemia, hypertriglyceridemia, fluid balance alterations, electrolyte and acid-base derangements.	false
+5f8ed8f8aeb130898d81bc90397386975d469e5e	In fact, due to both the acute loss of the kidneys' homeostatic function, and the frequent need of RRT, patients with @DISEASE$ are especially prone to hypoglycemia and @PHENOTYPICFEATURE$, hypertriglyceridemia, fluid balance alterations, electrolyte and acid-base derangements.	false
+b38bc213dc2701fa5ceeb2b430b5a72cd1465c0f	Loss of function of PTEN results in constitutive activation of AKT and downstream effectors and correlates with many human cancers, as well as various brain disorders, including macrocephaly, seizures, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2141f2174d207400e37dcf08a90ab4d827aba38e	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (@DISEASE$) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+04a361a5377830c7218f277927dec4ea312327fd	Effects of inherited mutation of PTEN are highly variable and include macrocephaly, @DISEASE$ (LDD) caused by a hamartomatous enlargement of the cerebellum, ataxia, seizures and @PHENOTYPICFEATURE$, in addition to cancer predisposition.	false
+d4d185eb4bb72cf6df92b5aef9af017b4b62e0a0	The purpose of this article is to describe the second familial case with @DISEASE$ and @PHENOTYPICFEATURE$ as the family previously described by Garc?a-Cruz et al. in 1990, corroborating this new distinct dysmorphic syndrome with probable autosomal recessive inheritance.	false
+513ab76e5682215890667fdea2a856fb54c66a84	Here, we report a 66-year-old woman with @DISEASE$ myeloma who had anemia, lumbago, multiple osteolytic lesions and @PHENOTYPICFEATURE$.	false
+2c278942d0ce5b4751cc7356edc719a2495bcb07	The patients did not display many of the features described as typical for @DISEASE$ myeloma: in particular younger age group, decreased survival and increased incidence of lymphadenopathy, hepatosplenomegaly, extraosseous disease, anemia, renal failure and @PHENOTYPICFEATURE$.	false
+57a8686129286e92b807d547c0045dcddf0b8786	We found that IgD myeloma was associated with higher frequencies of anaemia, renal failure, and @PHENOTYPICFEATURE$ and higher levels of serum LDH compared with non-@DISEASE$ myeloma.	false
+10bff9f8d9de5f09564cee26bbb19f04d1bc8af9	We found that @DISEASE$ myeloma was associated with higher frequencies of anaemia, renal failure, and @PHENOTYPICFEATURE$ and higher levels of serum LDH compared with non-IgD myeloma.	false
+8bedc12703d0730b981021f2d0a67e189c7a3d9b	@DISEASE$: haemolytic anaemia, myopathy with altered mitochondria and @PHENOTYPICFEATURE$ due to a new variant with accelerated enzyme catabolism and diminished specific activity.	false
+69a90af58e6400408233859da275825acc116b35	The typical malformative pattern of MMF embryopathy includes external @PHENOTYPICFEATURE$ ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); @DISEASE$, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/microphthalmia.	false
+ea1887e48633d06126088fd44b593fb7910f362b	The typical malformative pattern of MMF embryopathy includes external ear anomalies ranging from hypoplastic pinna (microtia) to complete absence of pinna (anotia); @DISEASE$, and ocular anomalies as iris or chorioretinal coloboma and anophthalmia/@PHENOTYPICFEATURE$.	false
+ca3e4da236bd2919b0831b26d130c216f23cfb04	A total of 305 liveborn infants with @DISEASE$, 123 with cleft palate, 163 with @PHENOTYPICFEATURE$, and 364 nonmalformed controls were genotyped.	false
+8ae95b24ef406f273d296b974fce9cbcf11b5234	Among cases of @DISEASE$, the rates were significantly higher than expected for anophthalmia/@PHENOTYPICFEATURE$, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs.	false
+2288b8419cdd46d66271ffd25a86df21906f4cba	Eight clusters of selected CAs with unusually high birth prevalence were identified: anencephaly, encephalocele, spina bifida, diaphragmatic hernia, @PHENOTYPICFEATURE$, omphalocele, @DISEASE$ (CL/P), and Down syndrome.	false
+1212febb94f1ca85adae186282133615fb957f36	Stratification by type of surveillance system showed that active programs had a higher prevalence of anencephaly, anophthalmia/@PHENOTYPICFEATURE$, @DISEASE$, reduction defect of upper limbs, and trisomy 18.	false
+5e3e35ccec96433d9086784457fee2ab696451ce	Stratification by type of surveillance system showed that active programs had a higher prevalence of anencephaly, @PHENOTYPICFEATURE$/microphthalmia, @DISEASE$, reduction defect of upper limbs, and trisomy 18.	false
+bd2fc261fb966d1ab808d2fdef9d949fa15fd278	@DISEASE$ is a distinct disorder characterized by progressive @PHENOTYPICFEATURE$ and enlarged, bizarre renal tubular epithelial cells.	false
+e5dd6b486e4aba6d8c737f4c8a65f8d7910e031e	@DISEASE$ is a rare cause of progressive @PHENOTYPICFEATURE$, which may be familial, and is frequently associated with a history of recurrent respiratory infections.	false
+8763f97827c3ee8783d9efb698d397e17d293fbc	Because modest nuclear enlargement of kidney tubule cells can occur as physiological or functional responses, it is recommended that the threshold for diagnosing renal tubule karyomegaly in animal studies should be accepted as at least four times normal nuclear size or larger.Abbreviations: BEN: Balkan Endemic Nephropathy; DMN: dimethylnitrosamine; GLP: Good Laboratory Practice; KIN: @DISEASE$; LAL: lysinoalanine; MeCCNU: 1-(2-chloroethyl)-3-(trans-4-methylcyclohexyl)-1-nitrosourea; NTP: National Toxicology Program; OSOM: outer stripe of outer medulla; OTA: ochratoxin A; RTT: renal tubule @PHENOTYPICFEATURE$.	false
+49cef395c00541c15661c6d81bbb72bd79b1f6d3	The patient was diagnosed with aspiration pneumonia and congenital @DISEASE$ syndrome, accompanied with congenital bilateral @PHENOTYPICFEATURE$, left homolateral auricle dysplasia, malformation in the left-hand thumb, patent ductus arteriosus (PDA), and patent foramen ovale (PFO) and tracheoesophageal fistula.	false
+da4e282c742b7774cc69eecb7bdf575e6c3336fc	Current evidence describing the central role played by PAI-1 in a number of age-related subclinical (i.e., inflammation, atherosclerosis, insulin resistance) and clinical (i.e., @PHENOTYPICFEATURE$, comorbidities, @DISEASE$) conditions is presented.	false
+47384530b8ba14e18581580a9094240174df3cf8	To screen all possible genes associated with @DISEASE$ and @PHENOTYPICFEATURE$ simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS.	false
+0613c865d7adf1e523bb6ba07584f7c4c595f062	To screen all possible genes associated with WS and @PHENOTYPICFEATURE$ simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with @DISEASE$.	false
+2e4762ef488537186f6aa74ea03a966672eadf7c	The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (@DISEASE$) and @PHENOTYPICFEATURE$-trigonal brachycephaly syndrome.	false
+62607b97f08af1741d390248e49f0e9a0b0bf6e6	The authors report the case of a 46-year-old woman presenting with @PHENOTYPICFEATURE$, unusual for her age, associated with a particular morphotype belonging to @DISEASE$.	false
+75a8c0fcb08204b4d7ea714adc711f38f8423a29	This together with alterations in Pol I transcription provide a novel mechanism possibly underlying at least in part the severe @PHENOTYPICFEATURE$ and premature aging in @DISEASE$ patients.	false
+9673084ae8d13d3bd27eb33ec39a16583b71fd09	@PHENOTYPICFEATURE$, myocardial infarction and stroke are the major complications of @DISEASE$.	false
+0ab8d80ebd27f59b564f894059d0356bab4d4a00	Wolfram syndrome (@DISEASE$) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and @PHENOTYPICFEATURE$ (D).	false
+50b9d3276887dc4922464519ac4906670e2deea1	A patient with @DISEASE$, partial lipoatrophy and diabetes mellitus presented several of the metabolic alterations found in @PHENOTYPICFEATURE$ and maturity-onset diabetes, in spite of a total body-fat mass which was markedly reduced when compared to randomly-selected women.	false
+a950cab949dcffa69b9299aa0cafc033d8033497	If untreated, @DISEASE$ presents variable neurological and @PHENOTYPICFEATURE$.	false
+387404e9f6d208bbc5363a1c98c42eb8f8486d52	KD has beneficial effects on cardiac ischemic preconditioning, improves oxygenation in patients with respiratory failure, improves glycemic control in diabetics, is associated with significant @PHENOTYPICFEATURE$, and has a beneficial impact on @DISEASE$.	false
+8081bba46097edebbb3d366f4448c0afc2c1ebc0	kg/m(2), hyperinsulinism, hyperandrogenism, amenorrhea, @DISEASE$, hypertension with @PHENOTYPICFEATURE$.	false
+a8685789426716b72285d844ffcb23925c220616	In a consecutive series of 80 @PHENOTYPICFEATURE$ eyes central @DISEASE$ was equally common in eyes receiving a silicone or an acrylic IOL.	false
+07085b158978f8d1ba6a730a2e293f0dac02a97d	@PHENOTYPICFEATURE$, even modest was proved to be a simple and efficient method to improve reproductive parameters in @DISEASE$ patients and should be recommended to all overweight and obese patients with infertility.	false
+73f519e0742614fc617ce558f15a5dc7f82ff8a1	Secondary amenorrhea is often associated with emotional stress, @PHENOTYPICFEATURE$, eating disorders or @DISEASE$-like disease.	false
+3d09fb0f8d29d7723db405b27e7cb31d2c03d2f8	Treatment with liraglutide, and/or associated @PHENOTYPICFEATURE$, significantly reduced PIIINP levels in obese women with @DISEASE$.	false
+2a72715a6d053159f79c97d4ba1510e7e3edda44	After @PHENOTYPICFEATURE$ surgery, patients with pearl-type PCO had lower VA and contrast sensitivity than those with fibrosis-type @DISEASE$.	false
+31d69d3d89febea5abf0ac1a7f4e6ce4e29ac27b	The aim of this review is to focus on the potential benefits of a dietary supplement of myo-inositol, by far the most common inositol isomer in foodstuffs, in human disorders associated with insulin resistance (@DISEASE$, gestational diabetes mellitus or metabolic syndrome) or in prevention or treatment of some diabetic complications (neuropathy, nephropathy, @PHENOTYPICFEATURE$).	false
+021c12a14193730e17e6295c249439c8128b2663	The current lines of treatment of an ovulatory infertility due to @DISEASE$ lie between @PHENOTYPICFEATURE$, insulin sensitising agents, clomiphene citrate, gonadotrophin therapy, or finally ovarian cauterisation.	false
+8834a7b24acec798ea5e97e8f9357bbab4b1059b	RECOMMENDATIONS 1. @PHENOTYPICFEATURE$, exercise, and lifestyle modifications have been proven effective in restoring ovulatory cycles and achieving pregnancy in overweight women with @DISEASE$ and should be the first-line option for these women.	false
+9cb89dc6386ac9e9a4979d2b041872497999fe87	Thus, the adoptive transfer experiments offer a model where @DISEASE$-deficient M?s accumulate in VAT and protect against metaflammation and @PHENOTYPICFEATURE$-associated dysregulation of glucose metabolism.	false
+9d86bb696f1f61e02b0c2e014bb5902f4b9d155d	Our findings demonstrate that @DISEASE$ is a marker of MAT I/III deficiency, and that complete lack of MAT I/III activity can lead to @PHENOTYPICFEATURE$.	false
+ccbd7070e9b6dc59033fb4bf2e891f3a785b8adc	Our findings demonstrate that isolated persistent hypermethioninemia is a marker of @DISEASE$, and that complete lack of MAT I/III activity can lead to @PHENOTYPICFEATURE$.	false
+84cf23ffbafb912a475cc4563a63117d3010114b	Here, we present the case of a patient with nephrotic syndrome caused by @DISEASE$, chronic @PHENOTYPICFEATURE$ and a history of leprosy.	false
+1a12c9e4139cd74b3651a9ca415a3f59b6078d69	Renal @DISEASE$ among heroin addicts seems to be associated with chronic suppurative @PHENOTYPICFEATURE$.	false
+6af7b2b90ae87cf5129fbc366cad5e254442d21a	The latter involves potential applications to a whole host of diseases ranging from cancer to those that affect bones (osteoporosis), ears (hearing), eyes (macromolecular degeneration), the heart (@PHENOTYPICFEATURE$/cardiac arrest,), immune system (immune deficiency disease), kidney (nephrotoxicity), lungs (cystic fibrosis), pancreas (diabetes and cystic fibrosis), skin (@DISEASE$), and stomach (ulcers).	false
+a512ab5a8cf332ed0a9ad2750cba1bd407517e42	Tumour necrosis factor receptor-associated periodic syndrome (@DISEASE$), a rare autosomal dominant disorder, is characterised by recurrent attacks of @PHENOTYPICFEATURE$, myalgias, and abdominal pain.	false
+576f80e9df5d0084ad8f99fa449978ed2e52631a	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of @PHENOTYPICFEATURE$ attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia.	false
+246d4ea356fab46fb4be1ef057c2fb7d7c813b9a	It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor ?. A patient with @DISEASE$ may present with prolonged episodes of @PHENOTYPICFEATURE$ attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities.	false
+98537e538f5a4eb50ac053bfd069a3f49adc2c95	There is a clinical overlap to hereditary periodic fever syndromes as familial Mediterranean fever (FMF), Hyper-IgD and @PHENOTYPICFEATURE$ syndrome (HIDS), Tumor-necrosis factor receptor associated periodic syndrome (@DISEASE$) and others, in which a genetic basis for the disease has already been found.	false
+f7ec5a6a3c2dc4eb97fb72526695adb21a95ac4e	Tumour necrosis factor receptor-associated periodic syndrome (@DISEASE$) is a hereditary autoinflammatory disorder characterized by recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+26eb2870633787fa4e0dbe3e65010af8a4b93a95	TNF receptor-associated periodic syndrome (@DISEASE$) is an autosomal dominant disorder characterized by recurrent attacks of @PHENOTYPICFEATURE$ and serositis.	false
+691f44f61b43cdea263d3213efc573cb1f10d58b	Tumor necrosis factor receptor-associated periodic syndrome (@DISEASE$) is characterized by recurrent episodes of inflammation with @PHENOTYPICFEATURE$, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema.	false
+f6f41a0cf5d4d6d535d50bbc816a3bf9ea9f254c	@DISEASE$ (FHF) is a rare hereditary syndrome that causes periodic attacks of @PHENOTYPICFEATURE$ and inflammation.	false
+bb72d1502034a5acd4a12d16a66fad825f7bd380	TNF receptor associated periodic syndrome (@DISEASE$) is an autoinflammatory disease involving recurrent episodes of @PHENOTYPICFEATURE$ and inflammation.	false
+de2fef60fbdaa1dda1d5e03b4996ef592300108c	@DISEASE$ was found in 87% of the patients, and @PHENOTYPICFEATURE$ confirmed by audiograms was present in 64.5%.	false
+8e63a90859aa09201beb0f41ce382941af5f2387	Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C?>?T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, @PHENOTYPICFEATURE$, scoliosis, dental anomalies, and @DISEASE$ (CDI).	false
+b69eae0b89fb244967609074a3303c45cc253946	Optic atrophy was present in all, @PHENOTYPICFEATURE$ in 4/7, @DISEASE$ in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects.	false
+dbe29e7f6e94ecfeb44f287fcca5c95ee55fde72	The frequency of systemic findings was as follows: optic atrophy (100%), diabetes mellitus (92.3%), @DISEASE$ (38.5%), @PHENOTYPICFEATURE$ (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases.	false
+91411253cca66c367c3f19255811e6a0c782599e	@DISEASE$ is an autosomal recessive disorder characterized by short ribs, polydactyly, @PHENOTYPICFEATURE$, and a cleft lip.	false
+4b32f0a8b4f567fdfe4244c1fa959bbf769443ff	Mucolipidosis type II (ML II, OMIM 252,500) is an autosomal recessive disorder clinically characterized by @PHENOTYPICFEATURE$ similar to @DISEASE$ and pronounced gingival hypertrophy.	false
+64c385162b188d168862c47cdab7a35fd1c27cc8	The aims of our study were to quantify the self-reported prevalence and type of @PHENOTYPICFEATURE$ in patients with different functional bowel disorders (@DISEASE$) and to determine if this prevalence is related to involvement of the upper or lower gastrointestinal (GI) tract, perceived disease severity, or psychological comorbidity.	false
+cdc3517a273ae86e7dc6c57f25c929e54e302fad	To compare the frequency and severity of bowel disturbances between rotating shift and regular day nurses and to determine whether functional bowel disorders (@DISEASE$) were related to @PHENOTYPICFEATURE$.	false
+d3231a8ad816d256067edb21aea63180db5e0f4a	Reversal of @PHENOTYPICFEATURE$ in a young man with @DISEASE$ using a tyrosine kinase inhibitor.	false
+06061507fb7ad5cd61ad0c93faeadf02b5431a71	@PHENOTYPICFEATURE$ and dyspnea in @DISEASE$ treated with Mepolizumab.	false
+f728db1c5466eef9b942db8c968637aab0929101	We report a 43-year-old woman with tubulointerstitial nephritis and uveitis syndrome (@DISEASE$) presented with a 5-day complaint of chills and fever, anorexia, @PHENOTYPICFEATURE$.	false
+8b6030d2e2eaf42f95ce312ad8fa9a1bb0a67d70	We report a 43-year-old woman with @DISEASE$ (TINU syndrome) presented with a 5-day complaint of chills and fever, anorexia, @PHENOTYPICFEATURE$.	false
+6a1bc17b3a22451c44d12c327d924023a117e8dd	@DISEASE$ (TINU) syndrome is characterized by tubulointerstitial and @PHENOTYPICFEATURE$.	false
+ecc08ac828613749c45bacc3e32cd1176a494464	@DISEASE$ (TINU) syndrome can present with multiple @PHENOTYPICFEATURE$, including nephrogenic diabetes insipidus.	false
+f0c4f0f311390dcf4ca086e7948ce4f2e99628eb	Although scleritis has not been reported as a tubulointerstitial nephritis-associated @PHENOTYPICFEATURE$, it may be part of the possible spectrum of ocular inflammation occurring as part of the @DISEASE$.	false
+17d5a74bf4d09936ab3b171426c56bc60737b764	We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including @PHENOTYPICFEATURE$, complex heart defect (@DISEASE$, dextroversion, PFO), bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism.	false
+bc802fda9c9b0e548daf8b3df0829f3465f84e24	Although some of the clinical features of this patient are seen in VATER association and sacrococcygeal dysgenesis, the presence of @DISEASE$, @PHENOTYPICFEATURE$, radial, renal and vertebral anomalies preclude these diagnoses.	false
+9c11d601d72a3218d48509b95c4840bfe1dac965	Among other findings at autopsy, the patient had the @PHENOTYPICFEATURE$ previously described with @DISEASE$.	false
+233aadd265f164dbf4c3fcebc3ba73b23c654642	This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (@DISEASE$)], and childhood forms [spinal @PHENOTYPICFEATURE$ (SMA)].	false
+a12d7029699d1a27bc6d0c5d3fdfbe70888fd9ef	@PHENOTYPICFEATURE$ was more prevalent in behavioural @DISEASE$ cases than in cases of the aphasic variant, and we detected a trend toward higher frequency among patients with more pronounced right hemisphere atrophy.	false
+ba2235e14537328e9710a40f4f2f63d3eeb5b130	@PHENOTYPICFEATURE$ was more frequent in the @DISEASE$ sample than in other patients with cognitive symptoms.	false
+e48a9292b9a8c93cbd54bde8f1b9daf4b193c61e	This case suggests that pure word @PHENOTYPICFEATURE$ could be a prodomal symptom of @DISEASE$.	false
+555f76020a7ec9a32aaf799f5e75395ea2be6952	Our findings suggest that @PHENOTYPICFEATURE$ is a shared risk factor for FTD and AD, while smoking plays various roles as a risk factor for @DISEASE$ and AD.	false
+1864f35a3b313faf2c24cce99e14087135410f73	Our findings suggest that @PHENOTYPICFEATURE$ is a shared risk factor for @DISEASE$ and AD, while smoking plays various roles as a risk factor for FTD and AD.	false
+39475f69571a6ee66a7b1935d335dbea6a0f9e52	In each disease group, five of 125 Alzheimer's disease (AD) patients (4.0%), three of 11 frontotemporal dementia (@DISEASE$) patients (27.3%), seven of 230 stroke patients (including two patients related to citalopram, 3.0%), one of 45 Parkinson's disease patients (2.2%) and four of 17 @PHENOTYPICFEATURE$ patients (23.5%) had bruxism.	false
+24258b587a10d67fadc8b41df970e7e5cd44c402	The first diagnosis was psychiatric disorder in six patients, AD in four, dementia in two, @DISEASE$ in two, and stroke and @PHENOTYPICFEATURE$ for one patient each.	false
+8afceb862ea1cca35d403072087a199cb2a3be6f	To study smoking and @PHENOTYPICFEATURE$ as risk factors for @DISEASE$ and AD.	false
+7819d9ea1c3e5c283e97733e852f058ab3602e64	Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (@DISEASE$) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and @PHENOTYPICFEATURE$.	false
+25a93eb2f490218818b5e6a3ed33f8b29d994f5e	Unlike with pure anarthria, pure word @PHENOTYPICFEATURE$ is not included in the clinical diagnostic current criteria for @DISEASE$.	false
+667d5eb853670767c32f99db5826ee37cbccd568	Clinical and molecular delineation of @DISEASE$ type 2 and profound @PHENOTYPICFEATURE$ in an inbred Arab family.	false
+96c31135205296eb8065b731a22a5bb2da9df7e4	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+0098168207ce9382046c7c3c79b47d1d023f6f68	@DISEASE$ (HH) is a strong risk factor for hepatocellular cancer, and mutations in the HFE gene associated with HH and iron overload may be related to other @PHENOTYPICFEATURE$, but no studies have been reported for gastric cancer (GC).	false
+e96655d2f634da9cb1820ee37d8925a1dabf2a30	Excessive iron accumulation in @DISEASE$ and dietary iron overload in the Black African population and membranous obstruction of the inferior cava cause the @PHENOTYPICFEATURE$ in a few countries.	false
+cb18098544aec4920583991f9c01fe6c9d4eb166	Other important features to be evaluated in all chronic hepatitis biopsy specimens include iron (which may represent @DISEASE$ or secondary uptake) and @PHENOTYPICFEATURE$-associated changes, namely large cell change and small cell change; these findings and their clinical import are updated and reviewed.	false
+150cd9cb336fd00ea93b529f031c4c20facf2284	Parents of @DISEASE$ (HH) homozygote patients, who are predominantly HH heterozygotes, have been found to have an increased risk of colonic @PHENOTYPICFEATURE$, diabetes, stroke death, stomach cancer and leukemia.	false
+36815b08ca6f17560f09aa54f1e26cf915b2c0ea	Biochemical findings included ceramide accumulation in @PHENOTYPICFEATURE$ and cultured fibroblasts, impaired ceramide degradation on loading of cultured fibroblasts with radioactive sphingomyelin, profoundly decreased ceramidase activity in fibroblasts as well as total beta-hexosaminidase activity in fibroblasts and serum, absent hexosaminidase A and B bands on cellogel zymograms, increased urinary oligosaccharide excretion of the @DISEASE$ type, and a partial reduction of ceramidase and total beta-hexosaminidase activities in fibroblasts from her father.	false
+edf7590ed700bd965b2a7b8d937f01c888df2377	@PHENOTYPICFEATURE$ in a family with @DISEASE$ and SH3TC2 deficiency.	false
+b73c85aba42cfd18bb3a998321d31ec1e6922eb9	There are various causes of primary amenorrhea in phenotypically females such as, @DISEASE$, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or @PHENOTYPICFEATURE$.	false
+aca350fbaff70a6a706ed2d724ec77aa4e46960b	There are various causes of primary amenorrhea in phenotypically females such as, @DISEASE$, @PHENOTYPICFEATURE$, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.	false
+f57b4ad794d18c6862eb8196c56f386f37e2508d	Diagnoses included micropenis (8), @DISEASE$ (3), partial androgen insensitivity syndrome (9) and @PHENOTYPICFEATURE$ (6).	false
+5b12f8a79b3ea3291e2b56565f51bceb85b24cb8	Primary amenorrhea in 46,XY females can be due to @DISEASE$ (CAIS), @PHENOTYPICFEATURE$, 17-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.	false
+a4dcf4398de8b0710c88e99386bfb941b9358291	Primary amenorrhea in 46,XY females can be due to @DISEASE$ (CAIS), pure gonadal dysgenesis, 17-hydroxysteroid dehydrogenase deficiency, or @PHENOTYPICFEATURE$.	false
+ed70fc94db5f9dad43758bbfb2a6d544c5d800e2	Among the patients recruited in our study, 48 patients (47.1%) were diagnosed with complete/partial androgen insensitivity syndrome (@DISEASE$/PAIS) (46XY), 33 cases (32.4%) with gonadal dysgenesis (46XY) and the remaining subjects (20.1%) with @PHENOTYPICFEATURE$ (with sex chromosome structural abnormalities).	false
+64bf2028d216020314b03df29df1e18fbb1b7706	Gonadoblastoma were observed in 2/21 patients with sex chromosome structural abnormalities (9.5%), 3/33 patients with @PHENOTYPICFEATURE$ (9.1%), 9/30 patients with @DISEASE$ (30.0%) and 3/18 patients with PAIS (16.7%).	false
+0a4d674893a74fb1947e09a5aa41d26103efe883	By diagnosis germ cells were present in all patients with @DISEASE$, Denys-Drash syndrome, SRY mutation, @PHENOTYPICFEATURE$, ovotesticular conditions and StAR (steroid acute regulatory protein) deficiency, in some patients with persistent m?llerian duct syndrome, XO/XY Turner syndrome and disorders of sex development not otherwise specified, and in none with complete or partial gonadal dysgenesis.	false
+0bb3db9ee812f3df3b5064c14847b18266187d6b	There were seven patients with 46XY dysgenetic testicular DSD (4 mosaic Turner, 3 @PHENOTYPICFEATURE$), seven patients with 46XY non-dysgenetic testicular DSD (4 persistent Mullerian duct syndrome, 2 @DISEASE$, one unknown), two patients with ovotesticular DSD, one patient with 46XX DSD (congenital adrenal hyperplasia) and one patient with 46XY DSD complete sex reversal.	false
+61c58fbc6911df24edb6524d5ba616e30d6e4eca	The incidence of gonadal malignancy in patients with @DISEASE$ (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY @PHENOTYPICFEATURE$, 17?-hydroxylase/17, 20-lyase deficiency and partial androgen insensitivity syndrome (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively.	false
+25290d2dd4d1900c83fa44c49895ba9b831299d3	The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for @DISEASE$ and Charcot-Marie-Tooth disease type 4B1, an isolated @PHENOTYPICFEATURE$ with myelin outfoldings, respectively.	false
+15a017420aeffa7eda12752be7ca5eeebd850422	Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or @DISEASE$) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth @PHENOTYPICFEATURE$.	false
+cafe18e170509e10bd9e4579e0d5d44122d0f9e9	The ILD diagnosis were: 41 cases idiopathic pulmonary fibrosis (IPF), @DISEASE$ associated ILD (29 cases), hypersensitivity @PHENOTYPICFEATURE$ (19 cases), alveolar proteinosis (9 cases), cryptogenic organizing pneumonia (9 cases), undefined ILD (46 cases), other (25 cases).	false
+16789cabb8e96501347d3e2f9851bfe726b3c597	[Ribosomal protein L7 as an autoantigen in patients with @PHENOTYPICFEATURE$, mixed @DISEASE$ and rheumatoid arthritis].	false
+b14a1dbdda4d0750883df3f587aad09be30dac61	We demonstrated that the concentrations of SP-D in sera are prominently increased in patients with idiopathic pulmonary fibrosis (IPF), interstitial @PHENOTYPICFEATURE$ with @DISEASE$ (IPCD), and pulmonary alveolar proteinosis (PAP).	false
+f904cf92f3af17a6d93efdc131febab11d5be526	[Immunofluorescent and clinical studies in idiopathic interstitial pneumonia and interstitial @PHENOTYPICFEATURE$ with @DISEASE$].	false
+cf67c4168f07769fb1273ce8c5192e10fdeb43ff	The use of new ELISA with recombinant SP-D and F(ab')2 fragment of anti-SP-D monoclonal antibody gives a greater advantage for the accurate detection of SP-D in sera from patients with idiopathic pulmonary fibrosis, interstitial @PHENOTYPICFEATURE$ with @DISEASE$ and pulmonary alveolar proteinosis without interference of rheumatoid factor.	false
+2abce10890b8d25fd47919b933652bab5067bf7b	Of these patients, 57% had an underlying condition, commonly hay fever/@PHENOTYPICFEATURE$, atopic eczema, @DISEASE$ or ichthyosis.	false
+5ae155fad9df28678c785157e68104040dd62785	MGSE was characterized by the mixture of escalating myoclonus and @PHENOTYPICFEATURE$, and was observed in patients with @DISEASE$ or unspecified PME.	false
+e4e91771781dd2aae169c2a639d4d3992207eca4	Pathologic conditions of the spleen can be classified into the following categories: congenital diseases (accessory spleen, polysplenia, and asplenia); trauma; inflammation (abscess, candidiasis, histoplasmosis, and sarcoidosis); vascular disorders (infarction, diseases affecting the splenic vasculature, and arteriovenous malformation); hematologic disorders (sickle cell disease and extramedullary hematopoiesis); benign tumors (cysts, hemangioma, diffuse hemangiomatosis of the spleen, and @PHENOTYPICFEATURE$); malignant tumors (sarcoma, lymphoma, and metastases); and other disease processes that affect the spleen diffusely (portal hypertension, @DISEASE$, and sickle cell disease) or focally (Gamna-Gandy nodules).	false
+75cb91dd6bbc21c20be5ab3fdc0f528e8e15be29	We demonstrated significant enlargement of the tumor bed cyst volume after carmustine wafer implantation, as well as the development of marked perifocal @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+f13518cbb2dbc27a19dd15a94a2305f2a2627188	@DISEASE$: the impact of @PHENOTYPICFEATURE$, type 2 diabetes and a multidisciplinary team.	false
+82f8283726ec3bdeb535c84aa7fb790e805bdf8b	Steatosis, @PHENOTYPICFEATURE$, and associated metabolic factors may also modulate the response to alcohol- and drug-induced liver disease and may be risk factors for the development of @DISEASE$.	false
+515f9560a219971488f0cc7a95f3b83039ff76f7	An increasing incidence of diabetes and @PHENOTYPICFEATURE$ in the United States has led to a recent surge in incidence of @DISEASE$ on the background of nonalcoholic fatty liver disease, and this disease is expected to commensurately grow in incidence.	false
+43c49800ee06a81ff3be510ffd4493bfe869728d	MiR-25 plays an important role in the pathogenesis of acute myocardial infarction, left ventricular hypertrophy, @PHENOTYPICFEATURE$, diabetes mellitus, diabetic nephropathy, tubulointerstitial nephropathy, asthma bronchiale, cerebral ischemia/reperfusion injury, neurodegenerative diseases, schizophrenia, multiple sclerosis, etc. MiR-25 is also a well-described oncogenic miRNA playing a crucial role in the development of many tumor types including brain tumors, lung, breast, ovarian, prostate, thyroid, oesophageal, gastric, colorectal, @DISEASE$, etc.	false
+3f891819beca108168bf992387915e360361cf63	The underlying conditions may be either primarily pulmonary diseases, such as @DISEASE$, or non respiratory conditions secondarily affecting the lung, e. g. @PHENOTYPICFEATURE$, or else conditions affecting the lung expansion, e. g. obesity or rib cage deformity.	false
+33266ad295341ae985b43f98364a7f9905969247	The underlying conditions may be either primarily pulmonary diseases, such as @DISEASE$, or non respiratory conditions secondarily affecting the lung, e. g. congestive heart failure, or else conditions affecting the lung expansion, e. g. @PHENOTYPICFEATURE$ or rib cage deformity.	false
+352dbfd90ec1ffeae0d0e22564981675be7f5f28	The extraesophageal symptoms possibly associated with GERD are chronic cough, bronchial asthma, sleep disturbances including @PHENOTYPICFEATURE$, hoarseness, dental erosions, non-cardiac chest pain and @DISEASE$.	false
+2f8e214ccca3f1076a2969387bf1d939fefcdb6e	Using this technique, several respiratory diseases, including chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, @DISEASE$, asthma, and lung cancer have been investigated over the past years.	false
+22357b5a215e536cf10a7d1d20786b9eb51faaeb	Patient B was 82?years old with severe @DISEASE$ on home oxygen who presented in decompensated right @PHENOTYPICFEATURE$.	false
+16b524ae3e1363bf29f7e7b3b1b4b5634e900bbb	DPO may occur as sequelae of mitral stenosis, left @PHENOTYPICFEATURE$, @DISEASE$, recurrent aspiration pneumonia, solid organ transplant, adult respiratory distress syndrome or may arise idiopathically.	false
+efda515562077475b68f1e98c10d4abb1814e788	The main causes of breathlessness were chronic obstructive pulmonary disease (COPD; 25%), asthma (21%), @PHENOTYPICFEATURE$ (19%) and @DISEASE$ (19%).	false
+8f256708064c5e2d928b51e05bfff0dcf411f626	Fibrotic therapies are potentially relevant to numerous common diseases such as cirrhosis, non-alcoholic steatohepatitis, chronic renal disease, @PHENOTYPICFEATURE$, diabetes, @DISEASE$, and scleroderma.	false
+dcb4eb66e0a19f042720f385ee097fc13a337d0a	This eventually leads to right @PHENOTYPICFEATURE$, which is the leading indicator of mortality in patients with @DISEASE$.	false
+db6f800b30eceecdeea6d5aba96de48a24575451	CT angiography identified prognostic cardiac information (left atrial enlargement, @PHENOTYPICFEATURE$, arterial thromboembolism) and comorbidities (suspected @DISEASE$, asthma).	false
+541966e71a0ce95173a8d43387d175921c38b762	Patient was diagnosed with an @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5978839cc7ea5bc8942353510fcdc04534fb2cf5	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by @DISEASE$ (PNDM) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+05fcf3d5eb4d329159bad49fc08f09fe1227b5d2	Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (@DISEASE$) associated with skeletal dysplasia, @PHENOTYPICFEATURE$ and liver dysfunction.	false
+9e968f3f16230612c1bfbf463f178b1420977408	We report the case of a full-term female infant with @DISEASE$, stemming from consanguineous parents, born with severe intra-uterine @PHENOTYPICFEATURE$ and birth weight of 1400 g.	false
+daab4ae0c720e60274b874dc4929ab8b46f63d8a	@DISEASE$ (HMD) is a rare genodermatosis characterized by nonscarring alopecia, fiery red gums, perineal @PHENOTYPICFEATURE$, and visual impairment.	false
+be1ce92639f0bafe24bd174fc2f925268ffd48cd	A diagnosis of @DISEASE$ should be strongly suggested by the triad of non-scarring alopecia, well-demarcated @PHENOTYPICFEATURE$ of oral mucosa and psoriasiform perineal rash, after exclusion of the clinically related follicular keratosis syndromes.	false
+b4fa3b787c74263278da5507fdcf01ebadf8abfb	We report the case of a 6-month-old child who developed acute @PHENOTYPICFEATURE$ because of laryngeal spasm during orthopedic manipulations for @DISEASE$.	false
+12f8d93be595b368de38bc9f717e47a7f93156b0	Type II cryoglobulinemia (CG) is a heterogeneous, generally indolent disorder caused by a monoclonal antibody with activity against polyclonal antibodies and is commonly associated with @PHENOTYPICFEATURE$ C, @DISEASE$ (LPDs), or autoimmune diseases.	false
+7d148a35e3edc3f7083c4d4d97b4db5ecf290edc	Extrahepatic manifestations include mixed cryoglobulinemia (MC) vasculitis, @DISEASE$, renal disease, insulin resistance, type 2 diabetes, sicca syndrome, rheumatoid arthritis-like polyarthritis, and autoantibody production; reductions in quality of life involve fatigue, depression, and @PHENOTYPICFEATURE$.	false
+3654cd23d319906379e4691af1d6b730e6610e56	There were seven deaths, two of which were related to infection (Candida @PHENOTYPICFEATURE$ and Epstein-Barr virus [EBV]-associated @DISEASE$ [LPS]).	false
+5416cc303c1095b86143e9ad14be80bddc5d0c55	Three had associated rheumatoid arthritis, two had a generalized @DISEASE$, and one each had scleroderma, @PHENOTYPICFEATURE$, and neuropathy.	false
+a58481b53ae255febbae5662fa4d1d2df0d44407	Overall, 52 patients with @DISEASE$, 2 patients with @PHENOTYPICFEATURE$, 1 patient with rheumatoid arthritis, 1 patient with an idiopathic autoimmune pancytopenia, and 1 patient with immune thrombocytopenia developed PML after treatment with rituximab and other agents.	false
+833a7cb724e06eb380d6eca6f00c91fb6f0663aa	A 47-year-old woman with a severe bilateral @PHENOTYPICFEATURE$ of the face (@DISEASE$) was surgically treated using this procedure.	false
+40433318684cde4559b9eeabb6c900abd2a8c8ee	A 34-yr-old woman with @DISEASE$ (MCTD) who died of @PHENOTYPICFEATURE$ due to pulmonary hypertension (PH) is reported.	false
+f219a15a9d8b41f705816888f47a07f1ca1e24d9	A 34-yr-old woman with mixed connective tissue disease (@DISEASE$) who died of @PHENOTYPICFEATURE$ due to pulmonary hypertension (PH) is reported.	false
+b2302158bad8ceedd20ea9ed8970f3b020a9fac8	We present a 58-year-old woman diagnosed with @DISEASE$ with co-morbid interstitial lung disease that has remained stable for 10 years, who developed @PHENOTYPICFEATURE$ (PTC) 10 years after initial diagnosis.	false
+4cc0c3836c4ce84e2f28d51c96859d7ff6ea5a1d	Identifying @DISEASE$ is critical, especially in patients requiring steroids that may worsen systemic HTN and @PHENOTYPICFEATURE$.	false
+4897c66e15b3993bb3200f898c936be29bad9d35	A young black woman with clinical and serologic features of mixed connective tissue disease (@DISEASE$) developed myocarditis with @PHENOTYPICFEATURE$ and ventricular ectopic activity.	false
+bda5a3dcaa30e65067db32c7a54514ddad5df127	Since his liver and cardiac function markedly improved after commencing furosemide and carperitide, we considered congestive hepatopathy due to @DISEASE$ and accompanying @PHENOTYPICFEATURE$.	false
+ebdcbf5885961d2514862e0e654a4ec3ef2754ca	Several clinical criteria and the specific biochemical findings lead to the diagnosis of mixed connective tissue disease (@DISEASE$) which is an autoimmune connective tissue disease characterized by cutaneous and visceral fibrosis and widespread vascular pathology.After treatment with diuretics, angiotensin-converting enzyme inhibitors (ACE-inhibitor) and beta blockers the @PHENOTYPICFEATURE$ symptoms disappeared and the ejection fraction improved.	false
+e8038d84d3c8bb21f66b61135680255c1ab2e7b5	Cardiovascular @PHENOTYPICFEATURE$, which is a common complication of diabetes, is associated with increased mortality in patients with coronary artery disease (@DISEASE$).	false
+7e8b72f297361d6e16a6a95b0e5775f47a78400e	Within normal range, higher levels are associated with coronary artery disease (CAD) and @PHENOTYPICFEATURE$ commonly associated to traditional risk factors (RFs) for @DISEASE$.	false
+eac64903d98de26c1f33deb18e94b0affb3de66b	Within normal range, higher levels are associated with coronary artery disease (@DISEASE$) and @PHENOTYPICFEATURE$ commonly associated to traditional risk factors (RFs) for CAD.	false
+20fe919da6cf38bfc29fbb7b8191f3fd2a41b7a8	@DISEASE$ was evenly distributed among patients with @PHENOTYPICFEATURE$, incompetence and mixed aortic valve disease.	false
+d7208de7ca69c6673c4043f082ac4bdecfb2a038	To investigate the association of @PHENOTYPICFEATURE$ hypopnea syndrome (OSAHS) with coronary atherosclerotic disease (@DISEASE$).	false
+0bd24d803bb454c75c5d172057b87df1295fe61d	@PHENOTYPICFEATURE$ hypoxia syndrome (OSAHS) is an independent risk factor for coronary artery disease (@DISEASE$).	false
+4a3315329f00ff38dff7f54d04f0774df8592a7a	Forty-eight @DISEASE$ patients with @PHENOTYPICFEATURE$, 15 CAD patients without heart failure, and 30 normal subjects were studied.	false
+b8e5c2141f7cccdc2f4db450ac2e5d026ba3a926	Forty-eight CAD patients with heart failure, 15 @DISEASE$ patients without @PHENOTYPICFEATURE$, and 30 normal subjects were studied.	false
+b7b00282bc1105c309d5c03ac1ebd659595567a3	Forty-eight @DISEASE$ patients with heart failure, 15 CAD patients without @PHENOTYPICFEATURE$, and 30 normal subjects were studied.	false
+86278872baf655472df7d6163196be8569bfee5e	Forty-eight CAD patients with @PHENOTYPICFEATURE$, 15 @DISEASE$ patients without heart failure, and 30 normal subjects were studied.	false
+c9775e49f89353fcc923f1bac1b195336a05c1d9	Coronary artery disease (@DISEASE$) is a highly considered dangerous disease which may lead to myocardial infarction and even @PHENOTYPICFEATURE$.	false
+aa8bd5a05a27ece0ec28440c39b6b29c351db2d7	The aim of this study was to investigate the association of @PHENOTYPICFEATURE$ hypopnea syndrome (OSAHS) with coronary atherosclerotic disease (@DISEASE$).	false
+83bc4e14528fc2e8eb0d54453b3631b8a20f0c3d	) for @PHENOTYPICFEATURE$ and @DISEASE$.	false
+68f2437f6c10eac25a6f2a30917dd0e6cf68b657	Thus, while confirming the presence of a relation between cardiac @PHENOTYPICFEATURE$ and inflammation in @DISEASE$ patients, our data show that the association is lost after revascularization procedures.	false
+0f51598d26ca82d6ae47b44822a7fdc93f4e958f	Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial @DISEASE$ (NEPPK) associated with @PHENOTYPICFEATURE$ without any additional features.	false
+3ce35898f78c332f562726d7d0bb69047795a60e	and @PHENOTYPICFEATURE$ (BMI30) and histologically confirmed @DISEASE$.	false
+cf25e27fbdee7ed56c11a7f7570a4f4cd138a928	Recent meta-analyses report an association between @PHENOTYPICFEATURE$, @DISEASE$ incidence, and ovarian cancer survival, but the effect of obesity on metastasis has not been evaluated.	false
+90467c580c16425cf3adbdbf362179bd57668da5	Recent meta-analyses report an association between obesity, @DISEASE$ incidence, and ovarian cancer survival, but the effect of @PHENOTYPICFEATURE$ on metastasis has not been evaluated.	false
+720011352b57ea31b122852ab8e38f45adbf99da	Recent meta-analyses report an association between @PHENOTYPICFEATURE$, ovarian cancer incidence, and @DISEASE$ survival, but the effect of obesity on metastasis has not been evaluated.	false
+c811805affc0b5b9ca4e903ead9b6df6c31e3133	Recent meta-analyses report an association between obesity, ovarian cancer incidence, and @DISEASE$ survival, but the effect of @PHENOTYPICFEATURE$ on metastasis has not been evaluated.	false
+02a9415c0c68c9777c2b7a2890546c808739db92	Subacute onset of @PHENOTYPICFEATURE$ and vertigo in a patient with leptomeningeal metastasis from @DISEASE$.	false
+dbaecf0ccc208254cf068ccef12a8d34d72614b6	Baseline heart rate and the frequency of @PHENOTYPICFEATURE$ episodes during treatment are prognostic of survival for patients with advanced @DISEASE$ receiving carboplatin-containing chemotherapy and tumor reductive surgery.	false
+1d2e0e5a28637c3992dff5b672b1378fd0d2f746	Together, these findings show that obesity potently affects ovarian cancer metastatic success, which likely contributes to the negative correlation between @PHENOTYPICFEATURE$ and @DISEASE$ survival.	false
+b4677a02bd1bd42667b57ebc6b70ca6b6f1cbbb7	Together, these findings show that @PHENOTYPICFEATURE$ potently affects ovarian cancer metastatic success, which likely contributes to the negative correlation between obesity and @DISEASE$ survival.	false
+264ae6488eeca284b6d4c15cb646ad64453b7380	Together, these findings show that @PHENOTYPICFEATURE$ potently affects @DISEASE$ metastatic success, which likely contributes to the negative correlation between obesity and ovarian cancer survival.	false
+90214eb6552c3510abda233cbacf3712edefd98f	Together, these findings show that obesity potently affects @DISEASE$ metastatic success, which likely contributes to the negative correlation between @PHENOTYPICFEATURE$ and ovarian cancer survival.	false
+ab3c085d7ba64bb4278db6ed6c223a2c82bd1618	Early menarcheal age is a risk factor for breast and @DISEASE$ and is also associated with an increased @PHENOTYPICFEATURE$ rate.	false
+5897c8cdb4d7cbffdd8a3d7c54fb57806460bce7	Epidemiological evidences associate @DISEASE$ with @PHENOTYPICFEATURE$.	false
+bc17e7ac8a60f9b1a958676e87fab31dd5f7201a	The evidence linking @PHENOTYPICFEATURE$ with @DISEASE$ remains controversial.	false
+38e478c2d06cf5f9e991018322995d00d4c0ed5f	The role of @PHENOTYPICFEATURE$ on @DISEASE$ survival is unclear.	false
+848d4ea28a83ee06a5596b8ab7612e25c5623dfe	[Association between @PHENOTYPICFEATURE$ and @DISEASE$].	false
+34568788911bcf3cb659c781ebf5730e89498d3b	Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one @PHENOTYPICFEATURE$ with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one @DISEASE$ (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy.	false
+4711a8c5ba51be26a2e80c34d534834ca7d9253b	The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (@DISEASE$), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (@PHENOTYPICFEATURE$), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, congenital hydrocephalus, polydactyly, syndactyly, and cleft lip.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+9553bd06e8f13b38abe29fbae2001b2004cc1175	@DISEASE$ (PN) is a rare inherited disorder characterized by poikiloderma, @PHENOTYPICFEATURE$, pachyonychia, short stature and neutropenia.	false
+b3f35c6ed016ad54ae3148ba116d75a0fd0d0e65	Our report presents the 10th case of @DISEASE$ with a hitherto undescribed association with hepatic @PHENOTYPICFEATURE$.	false
+3d49a348f9fb7ac5dfa2f437d18539b8ece55f27	Besides CHF, we recognized oligophrenia, cerebellar ataxia, @PHENOTYPICFEATURE$ vermis and coloboma, leading to the diagnosis of @DISEASE$.	false
+4e2e129c07d5dd0f0f0cb4f1dfba42572411ffbd	This combination of findings suggested a diagnosis of @DISEASE$ which is characterized by @PHENOTYPICFEATURE$ vermis, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.	false
+99dfec00a2acb9dc1893cf1f62ab58a2d7a15006	However, its association with @PHENOTYPICFEATURE$ and @DISEASE$ (SCA) remains controversial.	false
+8e05ed9445c85a9e71d96cd09c834cb74aae84e1	Genetic mutation in Korean patients of @DISEASE$ as a surrogating marker of idiopathic @PHENOTYPICFEATURE$.	false
+8f0ccd3a921124674dcab97b70fdc5de1698d56d	However, a subset of patients may develop malignant @PHENOTYPICFEATURE$ and present with syncope and @DISEASE$.	false
+c2f4dbdf7d5117088a196845b140459f4834b734	The implantable cardioverter defibrillator may prolong survival and prevent @DISEASE$ in patients with @PHENOTYPICFEATURE$.	false
+4668785f1d53978896aeebf39f11e084d76267f8	Eighteen patients (60%) had @PHENOTYPICFEATURE$ or @DISEASE$.	false
+30dcd0037665c8f6a76c15c3df1098285c01309f	[Efficacy of mexiletine in the treatment of @PHENOTYPICFEATURE$ in patients with @DISEASE$ and sick sinus syndrome].	false
+3da42f9977116b65f22a1a9c0f4357175b0c2307	There were no occurrences of sustained @PHENOTYPICFEATURE$, @DISEASE$, appropriate defibrillator shock, or death in either group.	false
+7459cd19a17c783abb23c85246c2c6a09341eb75	[Electric therapy of hyperkinetic @PHENOTYPICFEATURE$ in subjects with acute myocardial infarct associated with @DISEASE$ subjected to temporary stimulation].	false
+70b56e0bdb5154ad461f00d818a5ecc38616a7df	Exon 3 deletion of ryanodine receptor causes @PHENOTYPICFEATURE$, worsening catecholaminergic polymorphic ventricular tachycardia, and @DISEASE$.	false
+5cb4f79bed2a4332f95e71db25cd69bb49dbded2	Cardiac sarcoidosis is responsible for 50% of deaths which mainly occur by @PHENOTYPICFEATURE$ or @DISEASE$.	false
+c42f0b92da97d58c90b2cbdccac6dd0831d47321	@DISEASE$ (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes with shallow orbits, midface hypoplasia, cataract, and generalized skeletal changes, including spondylar dysplasia, overtubulation of the long bones with metaphyseal flaring and megaepiphyses, coxa valga, elbow deformity, and @PHENOTYPICFEATURE$.	false
+4862b9b4584ca3e6c1410737826337cd35de5f49	We describe the patients' course and treatment and provide a mechanism for the potential cause of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+0d5da6ae0262d29c8e56f33b688db82cca433df8	Electron microscopic findings in an eye removed from a woman who had biomicroscopic and angiographic signs of cystoid macular edema occurring in association with a peripheral @DISEASE$ disclosed evidence that the anatomic basis for the biomicroscopic and angiographic changes was the polycystic expansion of the extravascular compartment of the retina by serous exudate and not, as previously reported, @PHENOTYPICFEATURE$ of the Mueller's cells.	false
+60e77fffaedd88717ad0b8233fdd43b659191906	The therapeutic potential of MSX-122 was evaluated in three different murine models for inflammation including an experimental colitis, carrageenan induced paw @PHENOTYPICFEATURE$, and bleomycin induced lung fibrosis and three different animal models for metastasis including breast cancer micrometastasis in lung, head and neck cancer metastasis in lung, and @DISEASE$ micrometastasis in liver in which CXCR4 was reported to play crucial roles.	false
+93b6abafda081ae822c0884721aa314ebe005b05	Some of these features include photoreceptor loss, intraretinal edema, and retinal thinning overlying choroidal nevus; fresh subretinal fluid with preservation of photoreceptors overlying choroidal melanoma; and intraretinal @PHENOTYPICFEATURE$, retinoschisis, and retinal thinning overlying irradiated @DISEASE$.	false
+b85bced5d05498a1b5e3c7c2e63bd4acef471818	Some of these features include photoreceptor loss, intraretinal edema, and retinal thinning overlying choroidal nevus; fresh subretinal fluid with preservation of photoreceptors overlying @DISEASE$; and intraretinal @PHENOTYPICFEATURE$, retinoschisis, and retinal thinning overlying irradiated choroidal melanoma.	false
+4f07eb088129c88c1cde495770f196970569aed3	Some of these features include photoreceptor loss, intraretinal @PHENOTYPICFEATURE$, and retinal thinning overlying choroidal nevus; fresh subretinal fluid with preservation of photoreceptors overlying choroidal melanoma; and intraretinal edema, retinoschisis, and retinal thinning overlying irradiated @DISEASE$.	false
+f8a5157416d8ddcba5f404fd4d0d095d808d59db	Some of these features include photoreceptor loss, intraretinal @PHENOTYPICFEATURE$, and retinal thinning overlying choroidal nevus; fresh subretinal fluid with preservation of photoreceptors overlying @DISEASE$; and intraretinal edema, retinoschisis, and retinal thinning overlying irradiated choroidal melanoma.	false
+9042ab12768c09c865ed45147d78b314971256b0	The present identification of regions of enhanced Mn(2+) uptake in @DISEASE$ and a somewhat unexpected @PHENOTYPICFEATURE$ and increased outer retinal ion demand in neighboring non-tumor-bearing retina highlights MEMRI as a potentially powerful method for noninvasively monitoring tumor progression and treatment response and efficacy.	false
+8a4a56144451da62072a00329d01c5b8ed791233	Inclusion criteria included a diagnosis of @DISEASE$ treated with plaque radiotherapy and subsequent macular radiation vasculopathy (exudate, retinal hemorrhage, intraretinal microangiopathy, neovascularization, @PHENOTYPICFEATURE$).	false
+6f292b6961422e107d1f3948df5dafa3ed9608e8	Recently, germ-line mutations in BAP1, the gene encoding a tumor suppressing deubiquitinating enzyme, have been associated with predisposition to a variety of cancers including @DISEASE$, but no studies have examined the association of germ-line mutations in GNAQ and GNA11 with @PHENOTYPICFEATURE$ and blue nevi.	false
+bd3fffe2103557f9370cbf6932155e665a746fc1	Statistically significant EDI-OCT features for small @DISEASE$ included intraretinal @PHENOTYPICFEATURE$ (P=.003), shaggy photoreceptors or loss of photoreceptors (P=.005), loss of external limiting membrane (P=.008),	false
+fa6beb71d076c17eaf153cd3306629e4b0dcd813	@DISEASE$ phenotype associated with @PHENOTYPICFEATURE$ and interstitial deletion of chromosome 17q.	false
+2f43a814309cb81f04c9771b0a51c6c54c144bb5	Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), @DISEASE$ (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), @PHENOTYPICFEATURE$ (1) and pineal cyst (1).	false
+91c114e5470f04a35df071bfa57aa6e09ffdba3a	The @DISEASE$ was asymptomatic in 2 patients and symptomatic with @PHENOTYPICFEATURE$ and headache in 2 patients.	false
+e416b7267fb2bf1a3a0554efdb337def2a6219f4	Opioid-induced cough depression, urinary retention, and @PHENOTYPICFEATURE$ can be problematic in patients with @DISEASE$, who have deficient abdominal muscles and myriad of genitourinary problems.	false
+36d4f3ba51f403c09a345967bac974bd9e50c932	Editorial: @DISEASE$ bowel @PHENOTYPICFEATURE$.	false
+a5d4c9bc1fd9242f48c1fa8c7b2d9cbc9a399901	@DISEASE$ @PHENOTYPICFEATURE$ (diam.	false
+fd0b4b788039c07e4a0275392691dd94860a263b	MDCT of @DISEASE$ bowel @PHENOTYPICFEATURE$.	false
+f1e320ae3cb33c72b455a2309d63259ac4b05569	One child had a chronic progressive deforming arthropathy of the @DISEASE$ and large joints, with secondary @PHENOTYPICFEATURE$.	false
+387527d87163f0017df6fb8d63b973e4f50ed18f	Orbital extraocular extension of @PHENOTYPICFEATURE$ is very rare with @DISEASE$ melanomas.	false
+1ba5d7f2b68fec45216f82b86c72281f5b4f8c05	bias in @DISEASE$ @PHENOTYPICFEATURE$.	false
+c09298c7b661b9c43ff76595484dca6a0e4c4877	Letter: @DISEASE$ bowel @PHENOTYPICFEATURE$.	false
+f7797ff5725de15db49e65d051b2e3462034c70f	For both large and @DISEASE$ @PHENOTYPICFEATURE$, cavities were larger in the early interval especially for smaller tumors.	false
+8cbd4e3dfbddf78af2902872e1bba79eca4e41ec	For both large and small tumors, cavities were larger in the early interval especially for @DISEASE$ @PHENOTYPICFEATURE$.	false
+a0efe0534a8a8f2e7e13d5eca5afcd753e91d719	For both large and small @PHENOTYPICFEATURE$, cavities were larger in the early interval especially for @DISEASE$ tumors.	false
+7a3ce7c342aaf9f7c7fae49427cf0f3a73cce2c8	For both large and @DISEASE$ tumors, cavities were larger in the early interval especially for smaller @PHENOTYPICFEATURE$.	false
+430dbc6214388eb77fee160dd296e113e7464c0e	The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, @DISEASE$ kidneys and @PHENOTYPICFEATURE$ (micropenis, bifid scrotum, cryptorchidism).	false
+2a293273db091987f7ca35486cca61e7ce72c0df	@DISEASE$ bowel @PHENOTYPICFEATURE$ in Tuscany.	false
+fd8cb3f0b3862c772f5de0c8866e29c906448fe3	Multiple logistic regression analysis indicated that there were different in adverse factors including age, gender, DM, @PHENOTYPICFEATURE$, dyslipidemia and hypertension of FLD among ethnicity and obesity having higher OR value in each ethnic group can be as predictive index of @DISEASE$.	false
+5615d51c389ba6a3eefc3600997e37356338d152	Multiple logistic regression analysis indicated that there were different in adverse factors including age, gender, DM, obesity, dyslipidemia and hypertension of FLD among ethnicity and @PHENOTYPICFEATURE$ having higher OR value in each ethnic group can be as predictive index of @DISEASE$.	false
+e5e78b021237eb7ce3d4c54aea30f2089f73f2d6	Multiple logistic regression analysis indicated that there were different in adverse factors including age, gender, DM, obesity, dyslipidemia and hypertension of @DISEASE$ among ethnicity and @PHENOTYPICFEATURE$ having higher OR value in each ethnic group can be as predictive index of FLD.	false
+610d305a8e3edc7fcd1708330bd10ba4f13f4a4c	Multiple logistic regression analysis indicated that there were different in adverse factors including age, gender, DM, @PHENOTYPICFEATURE$, dyslipidemia and hypertension of @DISEASE$ among ethnicity and obesity having higher OR value in each ethnic group can be as predictive index of FLD.	false
+77378815da0d572796ceb4c2f16aa5345a25678d	Generally fatty liver disease (@DISEASE$) is attributed either to alcohol, diabetes mellitus, or @PHENOTYPICFEATURE$.	false
+bbb8e38217ecdc13850b6e3ae7aa6cccb292db64	A logistic regression model of this experience suggests that both exposure to hepatotoxins and @PHENOTYPICFEATURE$ are independent risk factors for @DISEASE$, which have an additive rather than a multiplicative interaction.	false
+3af22594ffedc3753d94398201c407a1278a3ab6	@DISEASE$ protects from diet-induced insulin resistance and @PHENOTYPICFEATURE$--novel insights from mouse models.	false
+e986a70003555f8cd6d70aa0392b1dbc0064f99b	In mice we induced, hypo- and hyperinsulinemia associated @DISEASE$ by diet induced @PHENOTYPICFEATURE$ and streptozotocin treatment, respectively.	false
+35847d3f4da7a42f8d11488d48326f96840c796a	Multiple regression analyses showed that obesity, high TC, TG, SUA, low HDL, and elevated ALT, AAR<1 were closely related to the elderly @DISEASE$, while male sex, @PHENOTYPICFEATURE$, high TC, TG, low HDL, elevated ALT, AST and AAR<1 were closely related to the non-elderly FLD.	false
+b2f083d6c5d18af1f1c937449b0bd5e6a9a35ee5	Multiple regression analyses showed that @PHENOTYPICFEATURE$, high TC, TG, SUA, low HDL, and elevated ALT, AAR<1 were closely related to the elderly FLD, while male sex, obesity, high TC, TG, low HDL, elevated ALT, AST and AAR<1 were closely related to the non-elderly @DISEASE$.	false
+56f557388414be236f730be208eb54b04714dbe2	Multiple regression analyses showed that @PHENOTYPICFEATURE$, high TC, TG, SUA, low HDL, and elevated ALT, AAR<1 were closely related to the elderly @DISEASE$, while male sex, obesity, high TC, TG, low HDL, elevated ALT, AST and AAR<1 were closely related to the non-elderly FLD.	false
+5100ede853c31d8edc024198329515627587671a	Multiple regression analyses showed that obesity, high TC, TG, SUA, low HDL, and elevated ALT, AAR<1 were closely related to the elderly FLD, while male sex, @PHENOTYPICFEATURE$, high TC, TG, low HDL, elevated ALT, AST and AAR<1 were closely related to the non-elderly @DISEASE$.	false
+725542970cf5bed3352cd377581894762ad253d0	Fatty liver disease (@DISEASE$), associated with chronic alcohol consumption or @PHENOTYPICFEATURE$, is a serious medical problem.	false
+7e4980f803338d3329b2d8fda4b52ec543e0f75a	With the increasing pandemic of @PHENOTYPICFEATURE$ and MetS in the general population, China is likely to harbor an increasing reservoir of patients with @DISEASE$.	false
+f16dbc0c68f78e71d9b9fec73bb398ef8ba482c5	The @DISEASE$ was found to be closely associated with sex, age, @PHENOTYPICFEATURE$ and other metabolic syndrome features.	false
+91dc1bc17a036a1567747551d0b9b9d48ed6228b	The risk factors for @DISEASE$ resemble to those of Caucasian counterparts, but the ethnic-specific definitions of @PHENOTYPICFEATURE$ and MetS are more useful in assessment of Chinese people.	false
+6fc385875b36748a31098dec429cb331aa22bd1f	Our results evidenced that the acrobatic training reversed the hyperactivity and anxiety, caused locomotion improvement and decreased @PHENOTYPICFEATURE$ in @DISEASE$ animals.	false
+c5045b836185fea34f14aef8a6ccce37f9635973	A combination of @DISEASE$, seizures, associated organ damage and IUGR should be considered a strong marker for the probability of a @PHENOTYPICFEATURE$.	false
+898b6d3cbd5c1b396bb21473317e2ae3fdaccc07	Faisalabad histiocytosis mimics @DISEASE$: brothers with lymphadenopathy, intrauterine fractures, @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+bd529f53dc2fdc287ee17561397df13ecefbd1ae	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial @DISEASE$, characterized by @PHENOTYPICFEATURE$, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+94dc7cca43cd6ed227f33c8083a164d52749b122	Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by @PHENOTYPICFEATURE$, familial histiocytosis and @DISEASE$ (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+6b3f63ed455fe72513e9c808097da66509ab5820	We show that Pex1-G844D homozygous mice recapitulate many classic features of mild @DISEASE$ cases, including @PHENOTYPICFEATURE$ and fatty livers with cholestasis.	false
+0a8d4de7b6bb83f661380bb50049b459acea96f6	@PHENOTYPICFEATURE$ in one patient was thought to be a result of @DISEASE$ and in the other patient, a result of chronic progressive external ophthalmoplegia syndrome.	false
+96608fd8135d19fe12079a4b3b248ae9730cecaa	X-linked @DISEASE$ (ADFN) was described in one Israeli Jewish family and is characterized by congenital nerve @PHENOTYPICFEATURE$ and piebaldness.	false
+9e629e0d0be8684731186251b23ec410cc77bc80	Recently, forms of quinolone toxicity such as @PHENOTYPICFEATURE$, @DISEASE$ or QTc-prolongation have attracted attention.	false
+e64c2fd000d4068d96c6f264b1b3a7eb975219c6	Lower eyelid cutaneous @PHENOTYPICFEATURE$ developed 6 weeks after sub-Tenon triamcinolone injection administered at the conclusion of scleral buckle and vitrectomy for @DISEASE$ repair.	false
+674ce6cb1ec858ad9881db4aa68c17275682e95f	Hyper- and @PHENOTYPICFEATURE$, drusen, pigment-epithelial @DISEASE$ deposits and capillary circulatory disturbances are described.	false
+9e4eaa6941ab749928e9c728703ee0fb171e6c7a	For CD in RRD, related factors include BCVA, IOP, lens @PHENOTYPICFEATURE$, refractive error, extent of @DISEASE$, number of holes, and macular hole.	false
+0349ea84d08f43a4c79de9618b7db73b7d92a671	Incontinentia pigmenti (IP) is an X-linked dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$, anodontia, alopecia, nail dystrophy and central nervous system defects.	false
+b9bcba6bbe2ffb9a8045dd55cd81ad2d46ed5cc9	Posterior segment examination of the patient's right eye demonstrated retinal pigment epithelium @PHENOTYPICFEATURE$ and clumping in the central macula beneath a chronic shallow serous @DISEASE$ (SRD), confirmed by optical coherence tomography.	false
+a464b0b2f82b6b0cd3ff211d891bd8f5103ff0b7	The most common ophthalmologic and radiologic abnormalities were cataracts, @DISEASE$, periventricular white matter abnormalities, ventriculomegaly, pontocerebellar hypoplasia, and multiple @PHENOTYPICFEATURE$.	false
+fba1ab4f87576b8375d71431a54deb2b1357ec51	A previously healthy 16-month-old girl with a diagnosis of a mosaic hypopigmentation at the age of 6 months based on a linear and whorled pattern of skin @PHENOTYPICFEATURE$ along the lines of Blaschko, presented with unilateral strabismus, leukocoria, @DISEASE$, and sub-retinal exudation.	false
+77277459cdf28eb8de1542ec90d355ba225a6219	A previously healthy 16-month-old girl with a diagnosis of a mosaic @PHENOTYPICFEATURE$ at the age of 6 months based on a linear and whorled pattern of skin hypopigmentation along the lines of Blaschko, presented with unilateral strabismus, leukocoria, @DISEASE$, and sub-retinal exudation.	false
+0debca420c9ce82a853086e1d15acc63aeac3bcd	Fundus examination of the right eye showed fibrovascular retinal band stretched to the ora serrata associated with total @DISEASE$ and peripheral @PHENOTYPICFEATURE$.	false
+8e53cafe0abb4004a38de63645aff43d6d3c5c91	Incontinentia Pigmenti (IP) is an X-linked genodermatosis that is lethal for males and present in females with @PHENOTYPICFEATURE$ and high variable clinical signs, including @DISEASE$, anodontia, alopecia, nail dystrophy and nervous system defects.	false
+8349eac7eb0e54604889bcf427d14c55eb320987	We describe three siblings with @DISEASE$, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and @PHENOTYPICFEATURE$.	false
+fe6014c62d337238af1267f44ddf8f18fa5e23fc	We describe three siblings with @DISEASE$, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, @PHENOTYPICFEATURE$, deafness, and microcephaly.	false
+1c83c2009118c7ee794c4700e4f86bb0dba8b5e1	In a polysomnographic study of 32 neuromuscular patients-22 with a form of muscular dystrophy, 3 with a form of @DISEASE$, 4 with a form of spinal muscular atrophy, 1 with a recurrent form of polymyositis and 1 with osteogenesis imperfecta syndrome--of which 21 were nonambulatory, we observed sleep related respiratory disturbances represented by: drops in oxygen saturation (SaO2), @PHENOTYPICFEATURE$, sleep disruption, apneas, tachypnea, tachycardia and snoring.	false
+cca6c9023af32ffc5d135c60939264f9fd2640be	@DISEASE$ with "corona" fibres, selective @PHENOTYPICFEATURE$, and craniosynostosis associated with novel recessive mutations in SCN4A.	false
+13b44bb65812c58d6adf7475c02999d5f146c868	@DISEASE$, recurrent secretory diarrhea, bullous eruption of skin, @PHENOTYPICFEATURE$, and deafness: a new genetic syndrome?	false
+a0be1746592291eb6be6424295fcd0e54f0716f7	Marden-Walker syndrome present in the neonatal period is characterized by oculo-@PHENOTYPICFEATURE$, @DISEASE$, and contractures.	false
+47a624606f637ff27ac55826384123a8401f76f2	Hepatomegaly, anorexia, weight loss, and @PHENOTYPICFEATURE$ were the most common clinical signs observed in the cats with @DISEASE$.	false
+7b62075d0f16fede63b42fadd1e5323ab051e245	@DISEASE$ (RBS) is a rare autosomal recessive disorder mainly characterized by @PHENOTYPICFEATURE$, limb defects and craniofacial anomalies.	false
+c4f2eb4608640504ee0f341b8538303f5f5f11ae	The @DISEASE$ is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, @PHENOTYPICFEATURE$, clitoral or penile enlargement, and bilateral corneal opacities.	false
+cb4da89ee082bd3352c55ab8fa13c7d7e42f1248	The @DISEASE$ is a rare autosomal recessive inherited disorder clinically manifested by tetraphocomelia, pre- and postnatal growth retardation, and craniofacial abnormalities (skull, eyes, lip, and palate), accompanied at times by centromer puffing and splitting, renal abnormalities, heart defect, clitoral or penile enlargement, and bilateral @PHENOTYPICFEATURE$.	false
+4df5bb6823cde5f5de0006646d7ad3b8d47122b1	The @DISEASE$ (pseudothalidomide syndrome) is a rare, usually lethal condition involving short limbs and occasional @PHENOTYPICFEATURE$.	false
+37648cfbddba79421458aaa2cd4b0103e9965ab8	The Roberts-SC phocomelia syndrome (@DISEASE$) is a rare, usually lethal condition involving short limbs and occasional @PHENOTYPICFEATURE$.	false
+232f4c98232e7a1d910ae94896f381a80897a2c5	@DISEASE$ (RS) is a rare, autosomal recessive condition characterized primarily by @PHENOTYPICFEATURE$, developmental delay, and limb anomalies.	false
+4b340199ea866c3dfb2a59c1d1eac0966e0f399a	@DISEASE$ (RS) is a rare, recessively inherited disorder characterized by @PHENOTYPICFEATURE$, limb reductions and craniofacial deformities.	false
+04b1083540a33fd7ec320b8b0eddbd1112cc756c	@DISEASE$ is an autosomal recessive disorder characterised primarily by symmetric reduction of all limbs and @PHENOTYPICFEATURE$.	false
+3e114439d0e7c4f63da8d633c44951af77ba717f	@DISEASE$/SC phocomelia (RBS) is an autosomal recessive disorder with @PHENOTYPICFEATURE$, craniofacial abnormalities and limb reduction.	false
+b610c383f3e13beb6bec7e13b80f4316be5ca103	@DISEASE$ (RS) is a rare recessive condition of limb deformities, @PHENOTYPICFEATURE$, and developmental delay.	false
+a9590265f2a43981b1990a551b5a03f63194f24f	@DISEASE$ (RBS) is a rare, recessively transmitted developmental disorder characterized by @PHENOTYPICFEATURE$, craniofacial abnormalities, and truncation of limbs.	false
+65603cdd27eb6e9afbd183d3ee0c98c525cfe72d	@DISEASE$ is a rare autosomal recessive condition characterized by @PHENOTYPICFEATURE$, cranio-facial abnormalities and symmetrical limb reduction of variable severity.	false
+4e89b79c21113cc0ffb7cb0ec791b7324f840145	2) A 65-year-old woman with undifferentiated @DISEASE$ who received intravenous furosemide 1 day prior to death for @PHENOTYPICFEATURE$.	false
+c9a9a76364a1add61b45634d1505ac9aaa7f4c66	A 48-year-old man with @DISEASE$ developed ARDS, and massive @PHENOTYPICFEATURE$ fluid was obtained with the fiberoptic bronchoscopy.	false
+aa9e66279353c0465a4417e20d834a4264c0ed60	The authors report a case of @DISEASE$ (SCLC)-related renal wasting @PHENOTYPICFEATURE$ and concurrent SIADH, and review the literature reporting 9 other cases of SCC associated with oncogenic osteomalacia.	false
+f782dee2b98b406d3ae6a15e23aba1f69f43cc0f	A patient is described with @DISEASE$, associated with profound @PHENOTYPICFEATURE$ and hyponatraemia.	false
+6939a22f6bc77dedf62ce170132bbb168eb138c6	The (11)C-choline PET/CT and CT diagnoses of pulmonary lesions and locoregional lymph node metastases were compared with pathologic findings, which revealed benign lesions in 26 patients (tuberculoma [8 patients], inflammatory pseudotumor [7 patients], @PHENOTYPICFEATURE$ [6 patients], sclerosing hemangioma [4 patients], and pulmonary sequestration [1 patient]) and lung cancers in 82 patients (adenocarcinoma [39 patients], squamous cell carcinoma [23 patients], carcinoid [7 patients], @DISEASE$ [5 patients], adenosquamous carcinoma [5 patients], and large-cell lung cancer [3 patients]).	false
+0bce5c0da9ba0ea1aa19f6b5e2da0b7b9981d443	She had slight @PHENOTYPICFEATURE$ in her facial and @DISEASE$ extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions.	false
+d92120a3b2d76a01e41696a7b762f43535fa397d	She had slight muscle weakness in her facial and @DISEASE$ extremities, and severe @PHENOTYPICFEATURE$ and atrophy in lower extremities more marked in the proximal portions.	false
+9174f03774414bb39f09ba1e67f7e27c47494b65	Three had a cervical or @DISEASE$ thoracic spinal cord tumor, and another had a @PHENOTYPICFEATURE$ lesion.	false
+3cb50f16428a2eb168782f931aa23ef3fd3506d0	Excretory urography is useful for following concurrent @DISEASE$ tract disease and @PHENOTYPICFEATURE$.	false
+77dbe194ec0bdfa47210a3294c805e36c1ae3e39	He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted @DISEASE$ lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral @PHENOTYPICFEATURE$.	false
+17a66a6dcb462c4c684cd118a11d2bff37fe95b7	He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted @DISEASE$ lip, @PHENOTYPICFEATURE$, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia.	false
+761b48b843d4f9e1ec14202fbef62aebb79a124c	The patient still exhibited abdominal distension, mild hypesthesia and slight @PHENOTYPICFEATURE$ in the @DISEASE$ extremities.	false
+a1d553c444a3e379119fd094914128127692d2b7	A total of 30 children had an associated @PHENOTYPICFEATURE$ and 27 had an @DISEASE$ tract anomaly.	false
+6cb89e80c8f85e73a279af7a442d7ca98077535f	For now, open surgery remains the standard approach for pediatric renal and @DISEASE$ @PHENOTYPICFEATURE$ and diseases with an expected postoperative result and course similar to that of laparoscopically performed procedures.	false
+ff3c7b65435119e67bedab6dbfa656f6a6179fcc	The patient had @PHENOTYPICFEATURE$ in left @DISEASE$ and lower extremities.	false
+28c701fc490e71cacb532b4f0ca5e727f9b4b676	Neurological examination on admission revealed distal dominant @PHENOTYPICFEATURE$ and atrophy of the @DISEASE$ extremities with fasciculation.	false
+802165b5ed9901550f845db101e46e9ece8ba6bf	Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented @DISEASE$ lip, @PHENOTYPICFEATURE$, and small mandible.	false
+a67486c5a418b196170b1fc89a8f708329f6d4ba	This paper discusses the pathogenesis, diagnosis, and treatment of six common forms of the disease: exfoliation syndrome, pigmentary glaucoma, @DISEASE$, lens-induced glaucoma, glaucoma accompanied by @PHENOTYPICFEATURE$, and trauma-induced glaucoma.	false
+844f2af07470d158489067ef8f7ec740c4be29ae	More notably, @DISEASE$ deficiency also limited @PHENOTYPICFEATURE$ cell invasion and the number of circulating cancer cells, markedly reducing the number of lung metastases.	false
+28b484bc6e4651ed24cc647d8489a0cc123dc184	Augmentation of in-vitro HIV replication in peripheral blood mononuclear cells of AIDS and @DISEASE$ patients by @PHENOTYPICFEATURE$ necrosis factor.	false
+c337df310afeeb3cb8320b70e66352a37115ca13	Partial @PHENOTYPICFEATURE$ responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with ARC and peripheral neuropathy treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with @DISEASE$ related peripheral neuropathy, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+2b79e67a9140236a39478406bb0122cb8088373c	Partial @PHENOTYPICFEATURE$ responses were observed in three of the four patients with AIDS related Kaposi's sarcoma treated with staph protein-A plasma perfusion, and resolution of neurologic symptoms was seen in both patients with @DISEASE$ and peripheral neuropathy treated with lymphoplasmapheresis. Our preliminary results suggest that lymphoplasmapheresis may be an effective treatment modality for patients with ARC related peripheral neuropathy, that protein-A immunoadsorption is well tolerated by patients with AIDS-related Kaposi's sarcoma, and that this treatment has antitumor and immunomodulatory effects in these patients.	false
+9c1930b97acc91350fda3d29b4b110eec663a243	The @PHENOTYPICFEATURE$ suppressor gene WWOX is mutated in @DISEASE$ with epilepsy and mental retardation.	false
+def36ae987e004a59cacd78d4c010ea80cfff067	Therefore the reduced NK activity in AIDS and @DISEASE$ patients can be consistent with the development of viral infections and unusual @PHENOTYPICFEATURE$ frequently observed in such patients.	false
+f3c1f5da5b6e49a9e5213d4422ad2ddd5132524a	Together with the fact that there are multiple signs of EBV-activation in AIDS-patients and patients with @DISEASE$ or PGL, this suggests that these virus carrying @PHENOTYPICFEATURE$ develop as results of the immunosuppression, and that EBV has an important role in their pathogenesis.	false
+f4b556a73698e5ac35a15b05bee0d22a108a77d4	Eight patients with @DISEASE$ and @PHENOTYPICFEATURE$ were recently evaluated.	false
+3390b0b1335a59e4618e28c990f479906ea58e77	We introduce the short @DISEASE$ @PHENOTYPICFEATURE$ tracking (SATT) method to overcome these issues.	false
+5023dd0f767f5abc94f89853f3aadee922202377	The implications of this study are that @DISEASE$ patients with @PHENOTYPICFEATURE$ should be fully evaluated and be considered for long-term dialysis.	false
+7793a6231b3259dd82c8e2a23ead997cbcf84191	As the number of AIDS and @DISEASE$ patients continues to increase dramatically, urologists will be called upon more frequently to help evaluate these patients for reversible causes of @PHENOTYPICFEATURE$ and to obtain tissue for pathologic diagnosis.	false
+e49fa0ffe150f2fa59e9450ab30a875a7fd3d4e7	Miller-Dieker syndrome is characterized for type 1 @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+9c71e6d17b9792ae32977bc45c60ef54394a5b69	These cases appear to represent a new lethal @DISEASE$ syndrome associated with arthrogryposis and @PHENOTYPICFEATURE$, which we propose to call the Winter-Tsukahara syndrome.	false
+43e2594105cc9cb1671ae3d36b7e6ae3ced0fbba	Papillon Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder, which is characterized by palmar-@PHENOTYPICFEATURE$, periodontitis, and premature loss of dentition.	false
+0fabe0723b29a4790b00c7d575897364c267d5b9	Six Iranian patients with @DISEASE$ experienced premature tooth loss and palm @PHENOTYPICFEATURE$.	false
+dc10a3aac0c71f4a20fba809dd56ccbe0da23f0d	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder which is characterized by palmar-@PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+2c63c733d280a54b78343b372cba64a3646e1469	Papillon-Lef?vre syndrome (@DISEASE$) is a rare autosomal disorder characterized by severe periodontitis and palmar @PHENOTYPICFEATURE$ (PPK).	false
+af21060d1db142737d072bc67057069951859e10	Papillon-lef?vre syndrome (@DISEASE$) is described as the association of palmar-@PHENOTYPICFEATURE$ with precocious periodontal disease which results in exfoliation of primary and permanent dentitions.	false
+347212634197cdb1cc7c40a088c701f31f17ad2f	Primary lateral sclerosis (@DISEASE$) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by spasticity, @PHENOTYPICFEATURE$, and bulbar involvement.	false
+b5fa611f9b27a3d01a9cc7374b40155a245dfd1e	@DISEASE$ (PLS) is a rare idiopathic neurodegenerative disorder affecting upper motor neurons and characterized by spasticity, @PHENOTYPICFEATURE$, and bulbar involvement.	false
+1ac0db98b578f3ff798785f94b69e15107d4d78c	Papillon-Lefevre Syndrome (@DISEASE$) is a rare autosomal recessive genodermatosis characterized by palmar-@PHENOTYPICFEATURE$, and destructive periodontitis.	false
+9f1756633fa3a07af96d9c9dfe35759db39ef3dc	@DISEASE$ is characterized by the association between palmar @PHENOTYPICFEATURE$ (PPK) and severe precocious periodontitis that results in the premature loss of both the primary and secondary dentitions.	false
+4ec150322010c683b657d41cf7eba7d94d91f5a5	Papillon-Lefevre syndrome (@DISEASE$) is a very rare, autosomal recessive syndrome characterized by palmar-@PHENOTYPICFEATURE$ and severe destructive periodontitis.	false
+0601ee810ddf483d529e3aadb84cf60279943655	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by palmar- @PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+65598f407d836ad3d3181adff2f6548c50b668ff	Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in @DISEASE$ are the principal ophthalmic @PHENOTYPICFEATURE$ manifestations.	false
+f55f15fee1e6ff56c089ce4972eb18065d69e1a0	We also report the occurrence of a spermatic cord mesenchymal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a86d2b67724562db85414e0ea530ed53f1a17a78	This article discusses the most significant extrarenal manifestations of these five renal cystic diseases: (1) ADPCK: hepatic cysts and cardiovascular abnormalities; (2) ARDCK: portal hypertension; (3) TS: @PHENOTYPICFEATURE$-like tumors of other organs; (4) @DISEASE$: central nervous system hemangioblastomas and paragangliomas; and (5) MCD: congenital hepatic fibrosis.	false
+600a14eef6aa89cefe0e79c44d9b0297f0f22e5c	It was seen that p53 and @DISEASE$ genes, which are implicated in @PHENOTYPICFEATURE$, were associated with miR-107.	false
+2a8e0809b948d606f70ada81aba0ad435e449332	@DISEASE$-deficient animals appeared normal in normoxia but survived for only a few days in hypoxia, presenting with pronounced erythrocytosis, @PHENOTYPICFEATURE$, and right cardiac hypertrophy.	false
+9411d7eeed268f6def788865f0bbe28774670ffb	Progression of epididymal maldevelopment into @PHENOTYPICFEATURE$-like neoplasia in @DISEASE$ disease.	false
+340771142fa41a39232eb0ddb9ae35a941633254	Neurofibromatosis type 1, tuberous sclerosis complex, and @DISEASE$, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of @PHENOTYPICFEATURE$, which carry the risk of malignant transformation.	false
+0d76c850894d350b77572e961f0f942c6ccf71b9	The clinical examination revealed an incidental finding of the 'SAPHO' (Synovitis @DISEASE$ Pustulosis @PHENOTYPICFEATURE$ Osteitis) syndrome which was subsequently confirmed by diagnostic imaging.	false
+370f9f235dbf882ed3a11c3dc38a15f679fe19b5	Clavicular @PHENOTYPICFEATURE$ and @DISEASE$ arthritis.	false
+065774fc89a2ae34df9917d71eea9d6c46ef45ca	The connection between the two diseases is not coincidental: it is encountered in 9.4% of PPP patients, and was reported in the French literature as part of the SAPHO (synovitis @DISEASE$ pustulosis @PHENOTYPICFEATURE$ osteomyelitis) syndrome.	false
+0e10edaa94f02b2854609e08bfbdfa41abb9e63b	Sclerosing bone disease, sometimes multifocal, which present the same clinical, radiographic and histological features as chronic sclerosing osteomyelitis may be associated with diseases such as palmoplantar pustulosis, colitis ulcerosa, Crohn's disease, etc. and are reported as SAPHO (synovitis @DISEASE$ pustulosis @PHENOTYPICFEATURE$ osteitis) syndrome.	false
+7ad62030a8900eaadedb7b97cc56a491f204f9b5	SAPHO (Synovitis @DISEASE$ Pustulosis @PHENOTYPICFEATURE$ Osteitis) syndrome is a recently recognized rheumatic condition characterized by hyperostosis and arthro-osteitis of the upper anterior chest wall, spinal involvement similar to spondylarthropathies and skin manifestations including palmoplantar pustulosis and pustular psoriasis.	false
+130b7617dd82e090f7ad1c99241ca9d960163f9f	SAPHO (Synovitis @DISEASE$ Pustulosis Hyperostosis Osteitis) syndrome is a recently recognized rheumatic condition characterized by @PHENOTYPICFEATURE$ and arthro-osteitis of the upper anterior chest wall, spinal involvement similar to spondylarthropathies and skin manifestations including palmoplantar pustulosis and pustular psoriasis.	false
+03fddbd676a236771f7aee22c978d1f8707be128	Retrospective multicenter study of patients entered into the Swiss Pediatric Rheumatology Working Group registry with a diagnosis of chronic nonbacterial osteomyelitis (CNO) and synovitis @DISEASE$ pustulosis @PHENOTYPICFEATURE$ osteitis (SAPHO) syndrome.	false
+dac4ff59b2ba8a752df8917bef2634afe4694bae	Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis @DISEASE$ Pustulosis @PHENOTYPICFEATURE$ Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease?	false
+0e10edaa94f02b2854609e08bfbdfa41abb9e63b	Sclerosing bone disease, sometimes multifocal, which present the same clinical, radiographic and histological features as chronic sclerosing osteomyelitis may be associated with diseases such as palmoplantar pustulosis, colitis ulcerosa, Crohn's disease, etc. and are reported as SAPHO (synovitis @DISEASE$ pustulosis @PHENOTYPICFEATURE$ osteitis) syndrome.	false
+fd7ea807b3b3ab9433ea1fbecc0a0fe165697182	A major problem in lengthening a short femur in proximal focal deficiency of the femur (@DISEASE$) is the development of @PHENOTYPICFEATURE$ and dislocation of the hip and knee joint.	false
+5fd86dba6e70ee48ec50fdf22f1fde8d70c4b724	In four patients (age 2.5-11 years) with @DISEASE$ (PAPPAS class III in one patient and VII in three patients), five femoral lengthenings with mechanical axis corrections were performed by the callotasis technique using a hybrid fixation system (Monotube/Triax) connecting the femur and the tibia with a fixed hinged knee joint to protect the knee against @PHENOTYPICFEATURE$ and dislocation.	false
+3592fd6c49c15626540a31bb1ed9ee48ec273646	In two cases postnatal investigation revealed no certain diagnosis and these included one patient with symmetrical tetraphocomelia with aspects of Roberts and @DISEASE$ and one patient at 15 weeks with a lethal skeletal dysplasia with rhizomelic limb shortening, a narrow thorax, platyspondyly, normocephaly, a normal pelvis, and a posterior @PHENOTYPICFEATURE$.	false
+bc381ce3d41d64e4fce6c9fa0a1c46889def3c71	A HIV-2 strain named HIV-2ben was isolated from peripheral blood lymphocytes of a patient who, since 1984, had developed neurological symptoms such as @DISEASE$, followed by paresthesia of extremities and @PHENOTYPICFEATURE$, and finally paraparesis of the legs and incontinence.	false
+08bb1703f8f059d0b537bf920de2a6cd96616a47	Diencephalic structures injury lead to several syndromes: diencephalic dysthermia, hypothalamic @PHENOTYPICFEATURE$, pediatric @DISEASE$, Cushing's disease, etc. Diencephalic syndrome manifests in 15-33% of patients with TBI.	false
+980d234042f062ba55c1b7bd578dc4a7081cf1b4	Diencephalic structures injury lead to several syndromes: diencephalic dysthermia, hypothalamic @PHENOTYPICFEATURE$, pediatric diencephalic syndrome, Cushing's disease, etc. @DISEASE$ manifests in 15-33% of patients with TBI.	false
+888635a3b0dc198d7981814312badd86b2e14b87	Therefore, we ascertained whether FTO is associated with @PHENOTYPICFEATURE$ (@DISEASE$), one of the most frequent cardiovascular diseases in the Western world.	false
+9bac22c5c4493d80ea63f760125e212d6f5c6630	Thus, it may be a novel therapeutic target to prevent subsequent @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c8ca55c4c955ae9f3ec48004364ed9a9debcd878	The proportion of @DISEASE$ cases estimated to be attributed to overweight and @PHENOTYPICFEATURE$ combined (BMI??25?kg/m2) was 10.8% (95% CI 5.2-16.4%).	false
+c34acc7b68622e447b56978ac8aaf9205e6638a5	Serious @PHENOTYPICFEATURE$ occur as a result of improper atrioventricular septum (@DISEASE$) development during embryogenesis.	false
+da30da1a3c74340e0a377f3ca62e4eb22b39e6ec	Examples of the first category include @DISEASE$, abetalipoproteinemia, Refsum's disease, infantile-onset spinocerebellar ataxia, and ataxia with blindness and @PHENOTYPICFEATURE$.	false
+4ddf656c9c6711e97f1e881787cd0201c0c48cf2	These findings indicate that @PHENOTYPICFEATURE$ is associated with an increased risk of @DISEASE$ and that a large proportion of the cases may be prevented if the population maintained a healthy BMI.	false
+217579f5ac6c1be7cc31af56e1fb33c3cd47a77b	Hypercholesterolemia and hypertension are associated with @PHENOTYPICFEATURE$ (@DISEASE$) in humans.	false
+73fed33a5b1de12504661701581a17c895d8ba5b	Aortic valve calcifications (AVC) as seen on conventional chest films or on CT are associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+65d6de5d00bf7fb1c057f2a7c26ba24966ee0ccc	We conducted a genome-wide DNA methylation analysis using an Illumina Infinium 450k human methylation assay in a cohort of 24 newborns who had @PHENOTYPICFEATURE$ (@DISEASE$), with gestational-age matched controls.	false
+3925ff7b0eec98132408b201d9c83b4ce1b0d650	In conclusion, MAC, AAC, and @DISEASE$ are associated with a significant risk of incident @PHENOTYPICFEATURE$, cardiovascular and all-cause mortalities, and worse outcome in older patients with preexisting cardiovascular disease.	false
+c4742ee839773cd9a729002b863c7c72dc3180a1	An 8-year-old female patient with a recurrence of a @DISEASE$ experienced @PHENOTYPICFEATURE$, headache, and visual disturbance that lasted a few days.	false
+0b71aab78fa80016d127962c99fd9527551333fa	Anterior cerebral artery notching on anterior optic pathways in a child with @DISEASE$ and progressive @PHENOTYPICFEATURE$.	false
+f4dd99cf4cf836d5554de86e81e27c3de0093b2d	IGFI was above the 10th percentile for children with idiopathic @PHENOTYPICFEATURE$ in 10 of 15 patients with @DISEASE$-induced GH deficiency and IGF-binding protein 3 in 14 of 15 patients.	false
+bfb12fd88b57bc57d629d88a2567c174d215b4b7	We report the clinical significance of anterior cerebral artery (ACA) notching on the optic nerve and chiasm in a 3.5-year-old girl with a @DISEASE$ and progressive @PHENOTYPICFEATURE$.	false
+429e4365b2112ba4a8496c0099bab426cdd78745	The authors report a case of @DISEASE$, which led a young child to early @PHENOTYPICFEATURE$ before the correct diagnosis could be made.	false
+87c1b5eafc4a3905274283ab8e0386eb8d2b2319	The solitary median maxillary central incisor (@DISEASE$) syndrome is a rare @PHENOTYPICFEATURE$ and has an incidence of 1:50,000 live births.	false
+7126ef9432f2028f6ba08e70759dbbeffeb29b7b	Solitary median maxillary central incisor (@DISEASE$) syndrome is a rare @PHENOTYPICFEATURE$ that affects 1:50,000 live births.	false
+702dd9a4b515ae342d031cfd6bcacf91be7d0e50	A significant @PHENOTYPICFEATURE$ was diagnosed with additional investigations in 4 patients (@DISEASE$, mitral valve prolapse, bicuspid aortic valve, and Wolff-Parkinson-White pattern).	false
+b50c3620edb4f41931a4c0d0ac1858104ec18c13	Neurogenic forms of ptosis are: Cortical @PHENOTYPICFEATURE$, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, ptosis in aberrant third nerve regeneration, sympathetic ptosis (Horner-syndrome), ptosis in cases of paradoxic innervation such as the Duane retraction-syndrome and the Marcus-Gunn-@DISEASE$ (ptosis linked with jaw movement).	false
+770ffdf8981cb6b95b7c710dfb6474475b778a38	Neurogenic forms of ptosis are: Cortical ptosis, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, ptosis in aberrant third nerve regeneration, sympathetic ptosis (Horner-syndrome), @PHENOTYPICFEATURE$ in cases of paradoxic innervation such as the Duane retraction-syndrome and the Marcus-Gunn-@DISEASE$ (ptosis linked with jaw movement).	false
+f5576fa81ee5a9dad726abaeece46e2b936681bc	Neurogenic forms of ptosis are: Cortical ptosis, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, ptosis in aberrant third nerve regeneration, sympathetic @PHENOTYPICFEATURE$ (Horner-syndrome), ptosis in cases of paradoxic innervation such as the Duane retraction-syndrome and the Marcus-Gunn-@DISEASE$ (ptosis linked with jaw movement).	false
+421ef2d629fbf5c9a5474605f36e656e4d946d61	Neurogenic forms of ptosis are: Cortical ptosis, ptosis from lesions of the oculomotor nucleus (congenital ptosis, Moebius-syndrome), peripheral oculomotor palsy, @PHENOTYPICFEATURE$ in aberrant third nerve regeneration, sympathetic ptosis (Horner-syndrome), ptosis in cases of paradoxic innervation such as the Duane retraction-syndrome and the Marcus-Gunn-@DISEASE$ (ptosis linked with jaw movement).	false
+8b0c867526d09d80c493af9175962310dca95723	Among the neurogenic @PHENOTYPICFEATURE$, the most frequent causes were PTOS type 1 and @DISEASE$.	false
+df834ebfaeaf14444ebeef6aa3273f97a8fc7740	A case of @DISEASE$ with @PHENOTYPICFEATURE$ characterized by acroparaesthesiae in the median nerve field of both sides is presented.	false
+ab57b864b6f8eef1643c1118f7d771466eac3ca3	Murine @DISEASE$ is associated with significant @PHENOTYPICFEATURE$.	false
+c586b5405518082a08ff49a701f3f1a2c5ede8df	The most common cause of death was septicaemia following obstructed labour or abortion-related sepsis, followed by haemorrhage, pre-eclampsia/ecalampsia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5940c55847896659c516c9c91642304bcc855a7a	In Nigerian children, @PHENOTYPICFEATURE$ and hypophosphataemia are associated with @DISEASE$.	false
+d401da791583246fa38669f86c86f0e5d1dcd4e0	The relationship between @DISEASE$ and linear @PHENOTYPICFEATURE$ requires further investigation.	false
+eb690e0bdcfd71370176544c7472ae268a999f28	All @DISEASE$ patients suffered serious cochlear @PHENOTYPICFEATURE$.	false
+caab5ba05308aeaa52ceb1315087e0c46a59ace7	However, little is known about the frequency with which @PHENOTYPICFEATURE$ occur during uncomplicated attacks of @DISEASE$.	false
+19420baace10d5d2b582a729f5ac6d26bcbe8a19	@PHENOTYPICFEATURE$: @DISEASE$ as a forgotten cause.	false
+01cec155e00d189a21c83799eb015a809ea9e77c	Finally, the possibility of pernicious @DISEASE$ aggravating the initial acute renal failure and @PHENOTYPICFEATURE$ is also discussed.	false
+6c98bbd99125f0ce105a7b729a0869d45ae34888	Experimental murine @DISEASE$ has been shown to result in significant @PHENOTYPICFEATURE$.	false
+d362bcb0ba16c20eae4fba13539fa3efd8eebbef	Hypocalcemia, @PHENOTYPICFEATURE$ and hypophosphatemia are common features of both @DISEASE$ and leptospirosis.	false
+0fa492861d4510ab4fb094ed2f8d2073dd50fcae	Thus, this article informs on key variants in transcription factor genes linked to @PHENOTYPICFEATURE$, aphakia, corneal opacity, glaucoma, microcornea, microphthalmia, anterior segment mesenchymal dysgenesis, and @DISEASE$, and facilitates their access through Web-based databases.	false
+f57e16195c95c7ddf2cadd6d1346c3e7ab1f196a	Thus, this article informs on key variants in transcription factor genes linked to cataract, aphakia, corneal opacity, glaucoma, microcornea, @PHENOTYPICFEATURE$, anterior segment mesenchymal dysgenesis, and @DISEASE$, and facilitates their access through Web-based databases.	false
+7239a20355a2ca684864664747c01f8521ac474a	@DISEASE$ is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild @PHENOTYPICFEATURE$.	false
+8b47083d64c60cebc1bccd8c6d36bb5f542aca61	@DISEASE$ (SYNS) is an autosomal dominant skeletal disorder characterized by @PHENOTYPICFEATURE$, progressive fusion of multiple joints, and conductive hearing loss.	false
+2631c3e15f328e79857ee080b806418d8ce48fb6	@DISEASE$ is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe @PHENOTYPICFEATURE$, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities.	false
+0581d5281eac28a5d00185aa5fb0a874a1adeda9	It is characterized by the impairment of renal proximal tubular function leading to normoglycemic glycosuria, aminoaciduria, @PHENOTYPICFEATURE$, hypouricemia and @DISEASE$.	false
+3a56d1038e36d32a2ccacfccc68dd44b11a1327f	He was also found to have hyperchloraemic metabolic acidosis with hypokalaemia, @PHENOTYPICFEATURE$, phosphaturia and glycosuria, which favoured a diagnosis of @DISEASE$.	false
+abfa954fd5e623fa579d2b8a46f64f598caceab9	All the deferasirox-related FS manifested with @DISEASE$ and @PHENOTYPICFEATURE$, which needed specific treatment or withdrawal of deferasirox use.	false
+fa2d08f9af138eec2c98de313300f333564ec995	There was evidence of secondary hyperparathyroidism with @DISEASE$, aminoaciduria, phosphaturia and @PHENOTYPICFEATURE$.	false
+3f3a4c921094485dc3720ca63e07db6215fe27b4	The @DISEASE$ (ABS) is characterized by craniofacial, skeletal and @PHENOTYPICFEATURE$.	false
+f0fc0f8349e6ea542eed82a456af3afb281b1c0f	Radiohumeral synostosis, femoral bowing, other skeletal anomalies and @PHENOTYPICFEATURE$, a variant example of @DISEASE$?	false
+628b035fa3991900d55cb4f7bc4a94d724404952	Additionally, the teenager patient had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+c9db1e01d5175a35533097bbe1d1b1a390539ddc	Sodium-retaining corticoid in the urine of normal children and adults and of patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+f9ff967313e2086eeb5bcace673014ccf1b3d77c	@DISEASE$, diabetes insipidus and @PHENOTYPICFEATURE$ were diagnosed and replacement therapy was administered.	false
+bbae395a2489796050421d5dd8980654abe15005	The infants also had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a18629f171f1ca6de4c46a51901f5b8eb6c7feaf	Glucocorticoid replacement therapy is independently associated with @PHENOTYPICFEATURE$ in women with @DISEASE$.	false
+f92249e8c0d27945b69ecc56588bc47d1bb14ea2	Recurrent, transformed non-Hodgkin's lymphoma presenting as chiasmal syndrome with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+45e579834dc0aa0b562725dbc3359e70ceb6d638	Pituitary function reassessed 6 months after initial admission confirmed anterior and posterior @DISEASE$ and @PHENOTYPICFEATURE$.	false
+686bcc57338f7cd2e8be49e7c1286ce333c284cb	He also developed @DISEASE$ after the resection with hypothyroidism, @PHENOTYPICFEATURE$ and hypogonadism.	false
+24e20302aad1cd66dfb0ff9d5f5900277f0077e0	Endocrine tests demonstrated partial @DISEASE$ and moderate @PHENOTYPICFEATURE$.	false
+028870a2f19c53e4cda889f951520080c83d9e8a	Children with autism and @DISEASE$ had significantly higher odds of overweight and @PHENOTYPICFEATURE$ than control subjects.	false
+f9a26eb0b7d12e24223359123e0e9c17e771c512	Children aged 3-12 years (n = 184) with typical development, @PHENOTYPICFEATURE$, autism, or @DISEASE$ took a series of theory-of-mind (ToM) tasks to confirm and extend previous developmental scaling evidence.	false
+5bbebd063538a0172efba848ee68393c53ae47b0	Thirty-four students with @DISEASE$, motor disabilities or @PHENOTYPICFEATURE$/hearing impairments were asked 55 close-ended and open-ended questions on participation restrictions and available support programmes.	false
+53671cad62cb8edd864b57af4393df9c7d636718	The mind behind the message: advancing theory-of-mind scales for typically developing children, and those with @PHENOTYPICFEATURE$, autism, or @DISEASE$.	false
+62ed1bec6478a6f4e5dda0871f4312a34227ed1e	In addition to cranial nerve dysfunction, two had a @PHENOTYPICFEATURE$, one @DISEASE$ and one a cleft palate.	false
+8dfec753a188cb265a58e8a52107be62af141353	Previous study demonstrated that WD with @PHENOTYPICFEATURE$ (WD-@DISEASE$) was limited to the posterior part (splenium).	false
+97393c55cb42ce7f0a28b594e02d5815a854bde2	Furthermore, the velocity of the prepontine CSF flow tended to decrease in the MSA-C patients compared with the @DISEASE$ patients, suggesting that this particular CSF flow analysis may be a new surrogate marker for differentiating both types of @PHENOTYPICFEATURE$.	false
+a1467d95840e054e6dee6faf09a423f7402fa95b	The analysis by subgroups showed that the oral form of ondansetron (a) is deleterious for coordination in patients with @DISEASE$, (b) has no effect upon tremor in upper limbs, and (c) has a mild effect upon posture and coordination in lower limbs in some subgroups of @PHENOTYPICFEATURE$ diseases.	false
+dbe2a72272728c559548ef0e5d1802a7433f0acd	Patients presented with ID, @PHENOTYPICFEATURE$, MIC together with @DISEASE$ are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.	false
+a5a486d4b0774830dc8ec056379ed4919bb45859	Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8c9410bbd6d816665e73c452b81ed41a4f00b767	Here, we used whole exome sequencing, and a targeted capture panel of syndromic @DISEASE$ known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and @PHENOTYPICFEATURE$.	false
+f8130b79b58d4b2966a198f106cd1687be574110	Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with @DISEASE$ observed upon autopsy, and 34 children with CCA and @PHENOTYPICFEATURE$.	false
+cc5c44ad946fadefecd95876508b274194b24e5e	Patients with cerebellar damage often present with the cerebellar motor syndrome of dysmetria, dysarthria and @PHENOTYPICFEATURE$, yet cerebellar lesions can also result in the cerebellar cognitive affective syndrome (@DISEASE$), including executive, visual spatial, and linguistic impairments, and affective dysregulation.	false
+92cc60c8d6f3522a31a92d7ba79b4cc732f0fae7	On the basis of the neuropathological identity of SCA 6 with @DISEASE$, and of the effect of gabapentin and pregabalin on recombinant VDCCs the authors put forward the hypothesis that these drugs might prove beneficial in SCA 6, as the @PHENOTYPICFEATURE$ would be expected to improve.	false
+8047a696bb8ec50c47e503ab55d18e0c056970a0	To describe a new spinocerebellar @PHENOTYPICFEATURE$ (SCA48) characterized by early cerebellar cognitive-affective syndrome (@DISEASE$) and late-onset SCA.	false
+af6d84dead995dc96993b7a50289c9915bdf003d	Long-term survival in a child with severe @DISEASE$, autism and severe @PHENOTYPICFEATURE$.	false
+0ec2bbb6ca8c862b1a11e36e36a839ac7c0a9f72	Two casuistic are studied, one with necropsies material and another with @DISEASE$ patients alive, on which CCA was frequently associated with other CNS malformations, in order to establish the circumstances in which the @PHENOTYPICFEATURE$ have been observed.	false
+325fb185db884989a4f1194cbc083bf650ddbeb0	New postoperative @DISEASE$ @PHENOTYPICFEATURE$ was observed in 2 patients.	false
+73b0d6b2d8474f19de959093adf44f0b032a0e75	Epiphora and @DISEASE$ @PHENOTYPICFEATURE$ were detected in all patients.	false
+03335610c7cb9e7842045621139ce332b00e79d5	On admission, @DISEASE$ @PHENOTYPICFEATURE$ and bulbar palsy were found.	false
+ec251025200745e8110e35ef595e69102b70a1d9	@PHENOTYPICFEATURE$ and @DISEASE$ discrimination.	false
+965ddc264cb554f0ce31ba8508ee17e1a7e060de	Scleroderma presents as @DISEASE$ @PHENOTYPICFEATURE$.	false
+dfc5d698154178d9b2c2cafa81112a0f00797833	The patient's @DISEASE$ @PHENOTYPICFEATURE$, however, did not improve following embolization.	false
+21f22db886519e0aff15beb90f8d0efad5988ffa	No patients developed complications such as @DISEASE$ @PHENOTYPICFEATURE$, facial asymmetry, or infection.	false
+aa51af764f4b03ab38eadcbe68e6a4a39b616c14	[An uncommon reason for @DISEASE$ @PHENOTYPICFEATURE$].	false
+965ddc264cb554f0ce31ba8508ee17e1a7e060de	Scleroderma presents as @DISEASE$ @PHENOTYPICFEATURE$.	false
+0b87eaaae10dec2d447455ecf3979d1c397ad418	P?=?.03), @DISEASE$ @PHENOTYPICFEATURE$ (13 [18.3%] vs 1 [2.8%];	false
+fbb4bf8565dad5b0adc32e3d5f9a4c4f1bbf7fb2	@PHENOTYPICFEATURE$ and poor nutritional status have been reported in children with @DISEASE$ (JIA).	false
+ec5bdb995dbdae6fa8105165b50cdf079e492efc	@PHENOTYPICFEATURE$ and leg length discrepancies in pauciarticular @DISEASE$.	false
+e5b1b339338373a791ade081c15e92ccce42275a	@PHENOTYPICFEATURE$ in children and adolescents with @DISEASE$.	false
+d9de27a840f18fd414609fd8bcd315e01fc8bb1a	We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by @PHENOTYPICFEATURE$, immunodeficiency and predisposition to malignant lymphomas, who developed @DISEASE$ (JIA)-like polyarthritis.	false
+82884cad127df69701a7bc413ee7b626bb16cc67	To study the clinical profile of various subtypes of @DISEASE$ (JRA) in adulthood and analyse the outcome of the disease in terms of functional status, educational achievement, @PHENOTYPICFEATURE$, radiological progression and activity of the disease.	false
+37491f0863620443bbe38df398b84b4c34dae00e	In 32 children with pauciarticular @DISEASE$, we studied residual @PHENOTYPICFEATURE$ and leg length discrepancy after the arthritis had entered remission.	false
+c23b895f1f52a943d5d90a0e4172a4deed370f40	Patients with @DISEASE$ (JIA) and involvement of the temporomandibular joint (TMJ) often experience @PHENOTYPICFEATURE$ growth.	false
+68f01920f2e69e44d91726fab3465ce0fdf155ad	The functional disability experienced in @DISEASE$ (JIA) is primarily caused by joint effusion, synovial membrane hypertrophy, and periarticular soft tissue @PHENOTYPICFEATURE$, leading to the degeneration of the osteocartilaginous structures because of the inflammatory process in the synovium.	false
+0b80f7a3d0c6af8926f13da3fc88764372c00e77	The finding of posterior uveitis or optic disc @PHENOTYPICFEATURE$ in a child with juvenile onset arthritis may allow the differentiation of NOMID from @DISEASE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+0be1126ee047b1336401d04ecd8b3bda49d466c8	In @DISEASE$, symptoms of encephalopathy, headaches, @PHENOTYPICFEATURE$, or focal neurologic deficits should raise suspicion for CNS involvement.	false
+f06b2fe227f784609013603ac4399c7f9f230cc9	In @DISEASE$, symptoms of @PHENOTYPICFEATURE$, headaches, seizures, or focal neurologic deficits should raise suspicion for CNS involvement.	false
+3499e9b93df8be7228af98316fbd987a0e262bb9	An 80-year-old woman with @DISEASE$ had @PHENOTYPICFEATURE$ and frequent falls.	false
+b76701f31fe5b37da7f57d1193fe0d87f9788789	[Functional disability and @PHENOTYPICFEATURE$ in @DISEASE$].	false
+f6c2660d43c709446dfea4b0add7d7b00d591a63	Prevalence of mutilans-like @PHENOTYPICFEATURE$ in patients with seropositive @DISEASE$.	false
+316cbbe7a942466e22228b3992a6c6bbdd8c7361	Reasons why @DISEASE$ patients seek surgical treatment for @PHENOTYPICFEATURE$.	false
+2c99bcc0b84451c39ad60103224342ac9cde44f9	Successful treatment with infliximab of refractory @DISEASE$ in a male with 'GDF5 @PHENOTYPICFEATURE$'.	false
+8497ef5773df841154cd78cf497412094f2e6553	Does @PHENOTYPICFEATURE$ have a protective effect on the erosive changes in @DISEASE$?	false
+049bd5d2ef691c23dda15111c73007f0be716ed8	The relationship between self-concept and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+afe4918ae291d1e8f0682ef70e18ae557ed2bcd1	Severe @DISEASE$ @PHENOTYPICFEATURE$.	false
+1884d6682deb17fd69482cfad013f249d6eac601	[@PHENOTYPICFEATURE$ of the jaw, biphosphonates and @DISEASE$].	false
+4be7c109d9f3d16a265ba9247b4651b087456ec2	@DISEASE$: congenital myopathy with cleft palate, @PHENOTYPICFEATURE$, and susceptibility to malignant hyperthermia.	false
+2cde3873e25eeb84e3dac7362f39b3be722beab5	@DISEASE$ and kaposiform hemangioendothelioma are two rare benign but aggressive vascular @PHENOTYPICFEATURE$ that occur mainly in children.	false
+7e93670d299f44403254d8083354675712448697	@DISEASE$ and kaposiform haemangioendothelioma are histopathologically well characterized; in addition they are now considered as part of a same spectrum of vascular @PHENOTYPICFEATURE$, with the contribution of lymphatic endothelial cells in their proliferation.	false
+caf8936020294043d400fb023385fdd4c5443109	@DISEASE$, first recognized in Japanese literature as "Angioblastoma of Nagakawa", is a rare benign vascular @PHENOTYPICFEATURE$ with a variable clinical presentation.	false
+9c0ae769533593ca83a52c5e7c3e9731372266a4	Among recently characterized vascular tumors, @DISEASE$ or angioblastoma is a benign acquired slowly progressive cutaneous @PHENOTYPICFEATURE$, which most commonly arises in the neck and upper trunk in children and young adults.	false
+9792f73ac97ca1330a38e455b32429ddda97e48c	Cellular @PHENOTYPICFEATURE$ components (especially @DISEASE$-like parts) infiltrated the wall of the sigmoid colon to the submucosal level.	false
+a7b574a0d3013e5d92048906b739edc4cb39f30f	We describe the sonographic appearance and vascularization of three types of vascular tumors, including hemangioendothelioma, @DISEASE$, and infantile myofibromatosis, and we determine whether vessel density and peak systolic shift can distinguish these @PHENOTYPICFEATURE$ from angiomas and differentiate between the subtypes of these three entities.	false
+b04c58111a0b1af4a70257daea7df146a920dfce	@DISEASE$ is a rare, slow growing, benign, vascular @PHENOTYPICFEATURE$.	false
+6455eed6e6fe08dc56092f0e3cedfd707dea2c4a	When it is present, the @PHENOTYPICFEATURE$ is either a @DISEASE$ or kaposiform hemangioendothelioma, and the GLUT1 marker can distinguish them from infantile hemangioma if the histologic diagnosis is uncertain (GLUT 1 is negative in both the latter cases).	false
+88d5e9a38c849db06d35eba19ca01a7ee33e13e5	@DISEASE$ in a child: unusual presentation with @PHENOTYPICFEATURE$.	false
+9785acbc71000aec4335970dde0c6a1f18b99847	After a discussion of normal age-related changes in sleep, specific sleep pathologies common in the elderly will be reviewed, including @PHENOTYPICFEATURE$, restless legs syndrome, @DISEASE$, and rapid eye movement sleep behavior disorder.	false
+49fcec319e17b503bfc59e31499c2bba4c9a9ea6	In this case report the authors describe the rare triple combination of a simultaneous hepatocellular carcinoma with a @DISEASE$ and a splenic @PHENOTYPICFEATURE$ in a renal allograft recipient.	false
+f60e49707c398b07ca668b6de501a97e3705a9ca	Serial echocardiography commenced 4 years before this diagnosis demonstrated a progressive left @PHENOTYPICFEATURE$ and dysfunction in the absence of ischaemia, suggestive of @DISEASE$-associated dilated cardiomyopathy.	false
+13fe3cf16d18560161eb89acd5033027e81ffe82	@DISEASE$ is an uncommon syndrome characterized by phosphaturic tumours that produce mineral @PHENOTYPICFEATURE$.	false
+54510ff470f0c39874b0b2557a1011907bbb9213	Clinicians and pathologists must be aware of the clinical symptoms, @PHENOTYPICFEATURE$, and pathologic features of @DISEASE$, which may be caused by tumors in the head and neck and thus make an exhaustive effort to diagnose the same.	false
+efadf14636a70bcc515d3138afc78946ed03c891	@PHENOTYPICFEATURE$ and reduced @DISEASE$ were uncovered in a substantial number of their otherwise healthy asymptomatic mothers.	false
+c1d660246714aa59be5498b626ee4937e3264525	In this study, 24 months of rhGH was a safe and effective therapy for the @PHENOTYPICFEATURE$ of SHOX haploinsufficiency, with no clinical deterioration of @DISEASE$.	false
+9d44a7a7c802f76f537d24c3c95d0ffb40ebd850	rhPTH-(1-34) treatment for 1 yr increases @DISEASE$ in ovariectomized monkeys without inducing sustained hypercalcemia or @PHENOTYPICFEATURE$.	false
+e5bfe553e158c0c29f5b229d6a2b9bc86e07cf66	@PHENOTYPICFEATURE$, duration of epilepsy, and polypharmacy were significant determinants of @DISEASE$, more so at skeletal sites enriched in cortical bone.	false
+3f8e8cd79645be03601d560a5c0695353f6318cb	One patient with undiagnosed @DISEASE$ received succinylcholine and developed acute rhabdomyolysis and @PHENOTYPICFEATURE$ cardiac arrest.	false
+d4bdc28846b0d515b9317b3c5c4b1aea2d94df57	Despite calcium and vitamin D supplements, this group of patients with sarcoidosis had low @DISEASE$ but relatively infrequent @PHENOTYPICFEATURE$ and hypercalcemia.	false
+2e0a150542ad0f86a25a53e80f52fb5003938e4c	Significantly increased @DISEASE$ was observed in patients with ankylosing spinal @PHENOTYPICFEATURE$ (ASH) in addition to OPLL.	false
+6fff94abae50f1e444b2a2f17cc6db278fafd625	We recently demonstrated that although @DISEASE$ in Finnish children with haemophilia was within the normal range, their whole body BMD was significantly lower and @PHENOTYPICFEATURE$ more prevalent than in controls.	false
+f173b745dfc7fbcc5549ca029699f92154cc0ac7	We recently demonstrated that although BMD in Finnish children with haemophilia was within the normal range, their whole body @DISEASE$ was significantly lower and @PHENOTYPICFEATURE$ more prevalent than in controls.	false
+85d83f8f6d8ed4d2bab1273ede362da21763bb5a	Those patients with absorptive hypercalciuria had higher @DISEASE$ in the femoral neck than those with renal @PHENOTYPICFEATURE$ and non-hypercalciuria.	false
+afcca6674287edf28e9a056e7ed2b63c24ed873c	There is however controversy about vertebral @DISEASE$ in patients wuse idiopathic skeletal @PHENOTYPICFEATURE$ (DISH).	false
+1eff67ba2fd65e3bcdcc8524e23493ebabf72360	The purpose of this study was to delineate the electrophysiological @PHENOTYPICFEATURE$ in patients with @DISEASE$ and to describe the presence of FVP in this population.	false
+a5f861165b0fa332a488ebf2fc4a8365ab813320	@DISEASE$ is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and @PHENOTYPICFEATURE$.	false
+ffef1241d9263b6396a00b9d4827347cd7326334	Male patients with @DISEASE$ have more severe systemic comorbidities than females and @PHENOTYPICFEATURE$ progression is usually too rapid for them to be listed as heart transplant candidates.	false
+79793851d3662d16d41a0822a11183e9bfb13dcd	@DISEASE$ is a rare X-linked storage disorder characterized by hypertrophic cardiomyopathy leading to arrhythmias and @PHENOTYPICFEATURE$.	false
+058a4a97eb7ff390e3bd6ca5e16252088bd00cd7	Early morbidity and mortality due to @PHENOTYPICFEATURE$ or sudden death are known in @DISEASE$, more in males than in females.	false
+4c4d371b6a02df0c0532d7a615270ae7282bdac8	Understanding how loss of LAMP-2 expression leads to cardiomyocyte dysfunction and @PHENOTYPICFEATURE$ has important implications for the treatment of @DISEASE$ as well as a variety of other cardiac disorders associated with impaired autophagy.	false
+839fe025fa8e3e55e12290ca615018603ae6f80d	Physiologically, Lamp-2 KO mice demonstrated early features of contractile dysfunction without overt heart failure, indicating that the metabolic abnormalities associated with @DISEASE$ precede the development of end-stage disease and are not merely part of the secondary changes associated with @PHENOTYPICFEATURE$.	false
+d0be60143476558081ad63eef7ca0756ed917479	Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural @PHENOTYPICFEATURE$, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in @DISEASE$), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities).	false
+f59af6371c72ff60639916551f39f48edce89ee3	Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (Lynch syndrome), familial adenomatous polyposis, @DISEASE$, and Peutz-Jeghers and Cowden/PTEN @PHENOTYPICFEATURE$ tumor syndromes.	false
+ae1a22cfabcb56afc794ed56596dc4628881a19b	The resulting differential diagnosis includes (attenuated) familial adenomatous polyposis ([a]FAP), @DISEASE$ (MAP), polymerase proofreading-associated polyposis (PPAP), phosphatase and tensin homolog (PTEN) @PHENOTYPICFEATURE$ tumor syndrome (PHTS), Peutz-Jeghers syndrome and juvenile polyposis, each with a?specific genetic background.	false
+e9364ae0e2e2e02f68834cde881fefd0525f68ae	Mutations within the FKRP gene can result in @DISEASE$ associated with @PHENOTYPICFEATURE$ and cerebellar cysts.	false
+e668ed45bead1ea682a9749e96ce4071dbdc9946	The evidence of severe structural brain abnormalities in association with @PHENOTYPICFEATURE$ is characteristic in congenital muscular dystrophy (@DISEASE$) forms other than the 'classical' form.	false
+0e0f3460ad84115fadc6a6defe913581216225ff	Homozygous truncating mutations in POMK lead to @DISEASE$ with secondary merosin deficiency, hypomyelination and @PHENOTYPICFEATURE$.	false
+4ed258c1ffefa1d1ac938d507cca422530b1cd21	Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and @PHENOTYPICFEATURE$ in three Italian families: evidence for a novel @DISEASE$ syndrome.	false
+9cddd2a3f4444ea934fb445952f1a0bfe797694f	Structural brain defects, with or without @PHENOTYPICFEATURE$, are additional features of several @DISEASE$ syndromes.	false
+981a3066360fa74358cfe083776a2317f443b91b	Here we report two @DISEASE$ siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, @PHENOTYPICFEATURE$ and normal MRI of the brain.	false
+d8d63d52273de6c1affd9a17b405d83cfc12fa33	The commonest forms are the Fukuyama CMD (FCMD), associated with @PHENOTYPICFEATURE$ and structural brain anomalies, and classical (occidental) @DISEASE$, with pure muscle expression.	false
+be477f788c926e11a489a5b50e1e1fc9cd073b22	The commonest forms are the Fukuyama @DISEASE$ (FCMD), associated with @PHENOTYPICFEATURE$ and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression.	false
+1f15deb0fbf39b81027b6923870cb927734b9044	Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+f2c3904dd3fd6b0fbde50c4c06ac19c95dd3582b	Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), @PHENOTYPICFEATURE$ (20/20), retinal malformation (18/18), and @DISEASE$ (14/14).	false
+165b3482c716a2a113a541b70d1c949b80f708b3	The aim of our study was to evaluate the incidence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+82c5dd59576480b0b9a83fd5346f5cd54d18c20f	We report a Fryns @DISEASE$ in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, @PHENOTYPICFEATURE$ and developmental regression.	false
+d56a680c48cbd5172a1ce889ce0e6287fd42bdd8	@DISEASE$ is a rare, chronic, @PHENOTYPICFEATURE$ caused by a group of dematiacaeous fungi.	false
+4931a9f0e91229f48ec5dfee532201a734931617	The @PHENOTYPICFEATURE$ was immunoreactive for FSH beta and showed ultrastractural features consistent with an oncocytic @DISEASE$.	false
+4fa4d07950ec2623d226bfef3cc3621a0581699b	Ultrastructurally, the @PHENOTYPICFEATURE$ showed typical features of a @DISEASE$ of female type.	false
+24f7047e78af56a21d7bc291fd9e06d47f3645d1	Sellar collision @PHENOTYPICFEATURE$ involving pituitary @DISEASE$ and chondroma: a potential clinical diagnosis.	false
+c6c1bbc2de31e44ca3485a671cac7ec94daea5e9	Morphologic study revealed a collision @PHENOTYPICFEATURE$; one was a somatotroph adenoma, the other a @DISEASE$.	false
+5141b0e4203b8e1d8ad2fadf0e023e968c24ac90	A transseptal transsphenoidal @PHENOTYPICFEATURE$ mass reduction yielded a histological diagnosis of a collision tumor comprised of a @DISEASE$ intermingled with osteochondroma.	false
+a6abcd38a20129f67ac2cdabe426a62685020571	A transseptal transsphenoidal tumor mass reduction yielded a histological diagnosis of a collision @PHENOTYPICFEATURE$ comprised of a @DISEASE$ intermingled with osteochondroma.	false
+a567488300f255175655205e0752157d190466b1	Analysis of @PHENOTYPICFEATURE$ tissue after pituitary surgery confirmed a silent @DISEASE$ with low proliferation index.	false
+c813e932063021423feaee054e0e16eec7a0a093	The majority of the @PHENOTYPICFEATURE$ showed typical pituitary @DISEASE$ morphology and staining.	false
+237137d9000d527762486964665137cdeb3e6709	Immunostaining of the @PHENOTYPICFEATURE$ tissue was positive for FSHbeta, confirming the diagnosis of @DISEASE$.	false
+f3a27606e780b7c1875a99d73a9b219b0f6e59bb	Surgery revealed a @DISEASE$ and he subsequently required gamma knife radiotherapy for residual @PHENOTYPICFEATURE$.	false
+b250aad2b6af076c5cb0b8b3c7ff58707467fb42	Based on electron microscopical characteristics the @PHENOTYPICFEATURE$ is consistent with an ACTH-negative female @DISEASE$.	false
+8ed5d146fa03d16e6ee38e8ed7fed416b92d6ed5	The optimum ratio of TPI to FTD was determined by measuring the maximum plasma level of @DISEASE$ after oral administration and the antitumor effect of FTD on human @PHENOTYPICFEATURE$ xenografts in mice.	false
+9cf3af53225bd0de0ae1588835f1424d2f046636	The optimum ratio of TPI to FTD was determined by measuring the maximum plasma level of FTD after oral administration and the antitumor effect of @DISEASE$ on human @PHENOTYPICFEATURE$ xenografts in mice.	false
+f898fb58490369e1dd846e658e5c1563cb743b68	The optimum ratio of TPI to @DISEASE$ was determined by measuring the maximum plasma level of FTD after oral administration and the antitumor effect of FTD on human @PHENOTYPICFEATURE$ xenografts in mice.	false
+86f4f2ff13d95976b060de30d9d65fe0c7358a6c	Although both FTD dose and exposure time in the FTD/TPI-treated and S-1-pre-exposed mice were smaller than those in the @DISEASE$/TPI-only-treated mice, the incorporated FTD in the @PHENOTYPICFEATURE$ in the former group was 86.5% of that in the latter group.	false
+4be35f60ed01db70cb9050afd79a63c0596dbd28	Although both FTD dose and exposure time in the FTD/TPI-treated and S-1-pre-exposed mice were smaller than those in the FTD/TPI-only-treated mice, the incorporated @DISEASE$ in the @PHENOTYPICFEATURE$ in the former group was 86.5% of that in the latter group.	false
+d2b7c6f4986f51772f831984b82bfd89489cf7c0	Although both @DISEASE$ dose and exposure time in the FTD/TPI-treated and S-1-pre-exposed mice were smaller than those in the FTD/TPI-only-treated mice, the incorporated FTD in the @PHENOTYPICFEATURE$ in the former group was 86.5% of that in the latter group.	false
+89bc5c081bad8490b4261e7e0fe40cc9a1ae68ab	Although both FTD dose and exposure time in the @DISEASE$/TPI-treated and S-1-pre-exposed mice were smaller than those in the FTD/TPI-only-treated mice, the incorporated FTD in the @PHENOTYPICFEATURE$ in the former group was 86.5% of that in the latter group.	false
+5a6459c815128b1b2db08c9b3f0be5053e592752	The formalin-fixed brain of a patient with clinically diagnosed frontotemporal dementia (@DISEASE$) was examined post-mortem using magnetic resonance imaging (MRI) with diffusion tensor imaging (DTI) at 3.0 T. Frontotemporal atrophy as well as bilateral frontal @PHENOTYPICFEATURE$ were seen.	false
+e43bb01781271832894dc767348e2215a070d1ea	@DISEASE$, @PHENOTYPICFEATURE$ and lower motor neuron involvement in a patient with C9ORF72 expansion.	false
+480c9c075cf2ea75a1baf79eb28b2e667b543285	In addition, @DISEASE$ was also detected by immunohistochemical staining in paraffin-embedded HCT-116 xenograft @PHENOTYPICFEATURE$ after intraperitoneal administration of FTD.	false
+0537d97477ff7b1b0feb7bfedd214d392a0cdc22	In addition, FTD was also detected by immunohistochemical staining in paraffin-embedded HCT-116 xenograft @PHENOTYPICFEATURE$ after intraperitoneal administration of @DISEASE$.	false
+d93b5cafea8e993e88abd148035ba251a1a1be4e	There are overlapping clinical and pathological characteristics between @DISEASE$ and @PHENOTYPICFEATURE$ syndrome, and some FTD patients may present with Parkinsonism.	false
+29e7d575fd9780ab7f73be4c2f7b10d7a774989f	There are overlapping clinical and pathological characteristics between FTD and @PHENOTYPICFEATURE$ syndrome, and some @DISEASE$ patients may present with Parkinsonism.	false
+f5cf147c30c86f97104de0e726ebc08a7e348910	The aim of this study was to analyze the hexanucleotide repeat numbers of C9orf72 gene in a mixed Taiwanese cohort with @DISEASE$, @PHENOTYPICFEATURE$ syndrome, Parkinson's disease (PD), and Alzheimer's dementia (AD).	false
+5b999de92bb9aa9a38d20944e61bff7115d07782	Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset @PHENOTYPICFEATURE$; (2) late parkinsonism associated with @DISEASE$; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS.	false
+e616c02e4a948282c058933e471c4566d867d61c	@PHENOTYPICFEATURE$ might precede, coincide, or follow the behavioral or language-predominant cognitive impairments characteristic of frontotemporal dementia (@DISEASE$).	false
+0d7338308fe83e609f11eec7494801235b9d7584	Other hyperkinetic movements, such as chorea, orofacial dyskinesias, @PHENOTYPICFEATURE$ and dystonia, are also observed in some patients with @DISEASE$.	false
+1818e11009978fc074d1dd270827adbc5e86dfba	Infliximab has been used in the following dermatological diseases: psoriasis, Behcet's disease, graft versus host disease, hidradenitis suppurativa, panniculitis, @DISEASE$, SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis) syndrome, sarcoidosis, subcorneal pustular dermatosis, Sweet's syndrome, toxic epidermal necrolysis, and Wegener's granulomatosis.	false
+e550dd8cffe047fd935586785c080c196f1ef995	It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, osteitis), as well as in a recently described entity named PASH (@DISEASE$, acne and suppurative hidradenitis).	false
+8421cc7d4eb9f359c05b01d99d606f84f6a139fe	It may occur in the context of classic syndromes like PAPA (pyogenic arthritis, @DISEASE$ and acne) and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, osteitis), as well as in a recently described entity named PASH (pyoderma gangrenosum, acne and suppurative hidradenitis).	false
+dea532733e18de7149ed37bd7fe522d5105de3b6	HS has been associated with several dermatologic syndromes including the follicular occlusion tetrad, PASH (@DISEASE$, acne, and suppurativa hidradenitis), PAPASH (pyogenic arthritis, pyoderma gangrenosum, acne, and suppurativa hidradenitis), and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis) syndromes.	false
+df5cf44253c1bf20988e12032d23be491303d671	HS has been associated with several dermatologic syndromes including the follicular occlusion tetrad, PASH (pyoderma gangrenosum, acne, and suppurativa hidradenitis), PAPASH (pyogenic arthritis, @DISEASE$, acne, and suppurativa hidradenitis), and SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis) syndromes.	false
+416c04badf0ad8a864ac736c942cd5af42a26fbe	The major representative conditions discussed are Sweet syndrome; @DISEASE$; neutrophilic eccrine hidradenitis; palmoplantar eccrine hidradenitis; subcorneal pustular dermatoses; bowel-associated dermatosis arthritis syndrome; and synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis.	false
+6bf58dedc58199f0daf6d25790b16019d20c1274	The manuscript attempts to provide an up-to-date review of (i) classical neutrophilic dermatoses, focusing on distinctive features in children and (ii) neutrophilic dermatoses which may largely be pediatric or genodermatosis-associated (Majeed, SAPHO [synovitis, severe acne, sterile palmoplantar pustulosis, @PHENOTYPICFEATURE$, and osteitis] syndrome, PAPA (pyogenic sterile arthritis, @DISEASE$, and acne), PFAPA (periodic fever with aphthous stomatitis, pharyngitis, and cervical adenopathy), and other periodic fever syndromes, and congenital erosive and vesicular dermatosis healing with reticulated supple scarring).	false
+ef5e1d14647c14f43b01bd362adb057fd6132167	Major drug-classes suspected to the adverse events were antineoplastics for interstitial lung disease, @PHENOTYPICFEATURE$ agents and psychotropics for rhabdomyolysis, antibiotics/chemotherapeutics, antineoplastics and intracorporeal diagnostic agents for anaphylaxis (anaphylactic shock, anaphylactic reactions, anaphylactoid shock and anaphylactoid reactions), and antibiotics/chemotherapeutics, antipyretics and analgesics, anti-inflammatory agents/common cold drugs, and antiepileptics for @DISEASE$/toxic epidermal necrolysis.	false
+cd8e87bdbbfa64de50da185edc904675c6bb572e	Patients developed ocular @PHENOTYPICFEATURE$ as a result of @DISEASE$, ocular cicatricial pemphigoid, and chemical and thermal burns to the cornea and ocular surface.	false
+3ce3ea71088599b37a39bd8a313de1fb553b8c51	The patient is a 62-year-old Indian man with known @DISEASE$ since 1972 secondary to tetracycline therapy, with bilateral dry eye and corneal @PHENOTYPICFEATURE$.	false
+7d3a9f111d557676800d7e9b99b3faec9b185c1a	Adverse events with a relatively high frequency included nausea, vomiting, pancreatitis, hepatic failure, @PHENOTYPICFEATURE$, and increase in levels of alanine aminotransferase, bilirubin, alkaline phosphatase, aspartate aminotransferase, and gamma-glutamyltransferase. It is noted that cholestasis, jaundice, an increase in International Normalized Ratio, and @DISEASE$ were also, although they were infrequent.	false
+b29e3da39ca2ba9f6a58ee3279599b19d1423aa3	The patient had the typical clinical manifestations of @DISEASE$ II with a bilateral keratopathy, palmar and @PHENOTYPICFEATURE$.	false
+9f411c825d96f1fdd1cc301dab30349284169cd5	Type II @DISEASE$ (Richner-Hanhart syndrome) is a familial aminoacid disorder, clinically characterized by ocular changes (keratitis), palmo-@PHENOTYPICFEATURE$, no constant mental changes with mental deterioration, abnormal urinary excretion and high serum tyrosine level in consequence of the absence of tyrosine-aminotransferase. Almost 20 families have been described in the literature of which 50% are of Italian origin, suggesting that this disorder is particularly frequent in our country.	false
+473102fe98c0f44d4db955860a5b15bda0af3627	Activation of nuclear factor E2-related factor 2 in hereditary @DISEASE$ type 1 and its role in survival and @PHENOTYPICFEATURE$ development.	false
+7b991e755502665680368d2f071d3ea33e1795ce	Postoperative @PHENOTYPICFEATURE$ and neck hematomas were less common in @DISEASE$ patients (p less than 0.001) than in the other groups.	false
+92384ec00e15e0e15730e1df79c34a72be246289	Although induced pluripotent stem cells, primary rodent neurons, and transfected @PHENOTYPICFEATURE$ cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1 To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete @DISEASE$ representative of Gaucher disease.	false
+20f49a0e353c9f6a38a0bf847a02e342760c09ef	Although induced pluripotent stem cells, primary rodent neurons, and transfected @PHENOTYPICFEATURE$ cell lines have been used to study the effect of @DISEASE$ on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1 To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease.	false
+c180fa8fb29d69f09669a884584a4f618917d969	@DISEASE$ should be considered in ferrets over 2 years of age that have clinical signs of seizures, episodic lethargy, ptyalism, @PHENOTYPICFEATURE$, and hind limb weakness.	false
+0340ae60fb75c1fd7179c9dbbc4791a4483c086e	The combination of recurrent episodes of @PHENOTYPICFEATURE$ related ataxia, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of @DISEASE$.	false
+8a57ad336d634383f633b233c06e4a6777579642	A boy who had the Candida endocrinopathy syndrome, consisting of mucocutaneous candidiasis, @PHENOTYPICFEATURE$ and hypoadrenocorticism, also had hypocomplementemic  @DISEASE$.	false
+aa4a76b4c0f7fcbb3fe24374289a1c68560795f3	We investigated CD56+ cells (natural killer cells), CD14+ cells (macrophage) and CD3+ cells (pan T cells) in urine using flow cytometry in various renal diseases including idiopathic crescentic glomerulonephritis, IgA nephropathy, @DISEASE$ membranous nephropathy, pyelonephritis and idiopathic renal @PHENOTYPICFEATURE$.	false
+612437c94633cb1d544e51ea4265b86e318da3b7	They had various types of proliferative glomerular disease, including rapidly progressive glomerulonephritis (RPGN), IgA nephropathy (IgAN), and @DISEASE$ (MPGN), or nonproliferative glomerulopathy including idiopathic renal @PHENOTYPICFEATURE$ and hereditary nephropathy.	false
+a0394e91125515ea4b3c9bc3a515bd4cf4e6234e	@DISEASE$ with corneal dystrophy, hypomagnesemia, GH deficiency, and @PHENOTYPICFEATURE$.	false
+5326aeb2ca4629b7d1bdd02fbedecbd9b934bdd5	The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, @PHENOTYPICFEATURE$ and, later, glucosuria (de Toni-Debr?-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete @DISEASE$.	false
+39f7b762e858adbeb867d4c97c17a9913d68d52f	We report a 43-year-old female with complete Kearns-Sayre syndrome, focal deficiency of cytochrome-c-oxidase (COX) and extensive deletion of the mtDNA in muscle fibers, which showed progressive insufficiency of the renal tubule: first hyperphosphaturia and @PHENOTYPICFEATURE$ and, later, also glucosuria (de Toni-Debr?-Fanconi syndrome), a syndrome to date rarely diagnosed in association with complete @DISEASE$.	false
+a0f8527085808ab1e826c4c8fd77fbb19a8e4e9d	We report a 43-year-old female with complete @DISEASE$, focal deficiency of cytochrome-c-oxidase (COX) and extensive deletion of the mtDNA in muscle fibers, which showed progressive insufficiency of the renal tubule: first hyperphosphaturia and @PHENOTYPICFEATURE$ and, later, also glucosuria (de Toni-Debr?-Fanconi syndrome), a syndrome to date rarely diagnosed in association with complete Kearns-Sayre syndrome.	false
+ac9bcf7160a7b8b0c2197a2626b6b2327e139688	@DISEASE$ (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and @PHENOTYPICFEATURE$.	false
+fb6724346f172ed5af94ed82627f19318c9d4dc4	Ick null mouse embryos displayed cleft palate, hydrocephalus, polydactyly, and @PHENOTYPICFEATURE$, closely resembling @DISEASE$ phenotypes.	false
+f22983866f0c2183951cf1eeb27ddb030635f132	@DISEASE$ cases did not differ significantly from healthy controls, though some patients with severe dyskinesia showed signs of @PHENOTYPICFEATURE$.	false
+7b11550502b093f7a3005ccf3c9f3246266afb29	Low CSF dopamine-beta-hydroxylase (DBH) activity was related to @PHENOTYPICFEATURE$, whereas high plasma DBH was associated with @DISEASE$.	false
+6594cdb10e7cb9de599bba32b7f4fb5aa0fae817	Using the MeSH terms alpha-tocopherol, tocopherols, vitamin E, Parkinson disease, @DISEASE$, Alzheimer disease, @PHENOTYPICFEATURE$, and clinical trials, a literature review was conducted to identify peer-reviewed articles in MEDLINE (1966-July 2005).	false
+b91e0f6210babe6ae1d70858d6b3d887acd3e4db	Vitamin E supplementation in Alzheimer's disease, Parkinson's disease, @DISEASE$, and @PHENOTYPICFEATURE$: Part 2.	false
+509562b2dcdfc76fa1a05873d184d586b3c8f49e	Conference participants reviewed the literature in the following areas: 1) weight gain and obesity; 2) diabetes; 3) hyperlipidemia; 4) prolongation of the QT interval on the ECG; 5) prolactin elevation and related sexual side effects; 6) extrapyramidal side effects, akathisia, and @DISEASE$; 7) @PHENOTYPICFEATURE$; and 8) myocarditis.	false
+b2afdcddda72505f0b2c855a4ccc045a85abbba1	@DISEASE$: an unrecognized cause of orofacial @PHENOTYPICFEATURE$.	false
+952c71b6b8fdda3c5fcb9916509f7b9f0cee0d96	All four women had signs of marked @PHENOTYPICFEATURE$, two of them also showing @DISEASE$ already prior to the treatment with clozapine.	false
+762830b22f90a1f53374a9e90de581ade12bde86	@PHENOTYPICFEATURE$ and intellectual impairment in @DISEASE$.	false
+f23bcae03d69ccc79bd96dba920623cafd17b427	We review the syndrome of hypoparathyroidism, @PHENOTYPICFEATURE$, and renal anomalies (@DISEASE$).	false
+4a30c95b34428ab2f049fcfa24abc02076468b97	HDR (Hypoparathyroidism, @PHENOTYPICFEATURE$, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of @DISEASE$.	false
+dc57919b8158d48aead4bfec3233f61dbfe96bce	@DISEASE$ is characterised by hypoparathyroidism, @PHENOTYPICFEATURE$ and renal defects.	false
+53c09f5f9f441abea8e92f355dfeb13a1da38140	Seizure, @PHENOTYPICFEATURE$ and renal agenesis: A rare case of @DISEASE$.	false
+433d6079818ad0689277e951b5cb246439514f47	Whole-genome sequencing identified novel mutations in GATA3, which causes @DISEASE$ (hypoparathyroidism and @PHENOTYPICFEATURE$), and STS, which causes X -linked congenital ichthyosis.	false
+fd9ef6ee52effbdd0d8e1c469f8a3de62ca43da5	A rare case of @PHENOTYPICFEATURE$ and renal abnormalities in @DISEASE$ caused by a de novo mutation in the GATA3 gene.	false
+ab0ec306b5242acd230eb30eb53f670c4379ace9	Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, @PHENOTYPICFEATURE$ and renal dysplasia, known by its acronym @DISEASE$.	false
+19fcf7d9595a8848cfe1a897bac861c81608decb	@DISEASE$ or HDR syndrome: Another association of kidney disease and @PHENOTYPICFEATURE$.	false
+6d97b029ddb1114a748ac0ccd0023c2dc3f3c6a0	Barakat syndrome or @DISEASE$: Another association of kidney disease and @PHENOTYPICFEATURE$.	false
+6bba1563c1ed4a3a82c4de9713be8f6fdd2b0d01	Patients with @DISEASE$ suffer from hypoparathyroidism, @PHENOTYPICFEATURE$, and renal dysplasia due to a heterozygous deletion of the transcription factor GATA3.	false
+22dac68ec50d4c4d983407126d557ff356a19f7e	Diagnosis of @DISEASE$ is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and @PHENOTYPICFEATURE$.	false
+a693d23b14030c616972284cfaafa6e97a7f2fac	Fetuses with prenatally diagnosed large @DISEASE$ @PHENOTYPICFEATURE$ and hydrops have undergone successful in utero resection.	false
+4d59ae4c8231dde0ab0820248886087761026862	Recently, malignant pulmonary @PHENOTYPICFEATURE$ were found to be associated with @DISEASE$.	false
+5c624a2e089954a81158a2092a7786ff325570a1	However, growth retardation in @DISEASE$ has rarely been reported, and the etiology of @PHENOTYPICFEATURE$ is not clarified.	false
+cd81bd103094a499e55ac60171011277c46ce2c2	Despite significant declining trends for hearing and speech, intellectual and visual @PHENOTYPICFEATURE$, the annual age-adjusted prevalence of physical and mental disabilities increased by an average of 11.2% (@DISEASE$: 11.2%; 95% CI: 10.5 to 11.9) and 13.3% (AAPC: 13.3%; 95% CI: 10.7 to 16.2), respectively.	false
+40c0774a924452ded4717612ea4bdad31baa789f	Despite significant declining trends for hearing and speech, intellectual and visual @PHENOTYPICFEATURE$, the annual age-adjusted prevalence of physical and mental disabilities increased by an average of 11.2% (AAPC: 11.2%; 95% CI: 10.5 to 11.9) and 13.3% (@DISEASE$: 13.3%; 95% CI: 10.7 to 16.2), respectively.	false
+4e890c965bdb5d6d51eda4ee307de37bf45bbb5f	The questionnaire revealed that the main causes of the stoma were @DISEASE$ (40%), @PHENOTYPICFEATURE$ (37%), perianal fistula, intestinal perforation and necrosis (10% each).	false
+7ea5a0eb6d40a7019951df44540dc9758e29bddc	Aarskog's syndrome with @DISEASE$, midgut malrotation, and @PHENOTYPICFEATURE$.	false
+031b98671d71f15179282d7a847ebcbab57edfa2	The other three had a complete cleft of the epiglottis associated with complex malformations: one had accessory auricles with preauricular sinus, polycystic kidney disease with intrahepatic biliary dilatation, endocardial cushion defect, and postaxial polydactyly; another had hypothalamic hamartoma, @DISEASE$, and @PHENOTYPICFEATURE$, which warranted a diagnosis of PHS; the other had no other dysmorphic features.	false
+2756752d47aed38136c73a2b5db2a5f9e5df5f8d	@PHENOTYPICFEATURE$ and @DISEASE$, so far described only in cartilage hair hypoplasia (CHH), were documented during the first months of life in our patient.	false
+631de97e6ee499787a46e59a6f1bda2cd419c05c	Here, we report on two further, unrelated patients with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, @PHENOTYPICFEATURE$ in one and @DISEASE$ in the other patient.	false
+e36355397b2ff9f8ad12d00f416894f9fe421af4	@DISEASE$ associated with @PHENOTYPICFEATURE$, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.	false
+d2f77e9dd9d06cdd55b729e6e0607347aedd7ef5	Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease, and agenesis of the corpus callosum.	false
+44c8efe62c04f5b1406a0c6bf3453ee6170370f6	An association of @DISEASE$ with @PHENOTYPICFEATURE$, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents.	false
+3af9eee1fb27a87f8f88632367d88d43585a97ea	The purpose of this study was to describe synaptophysin (SY) immunoreactivity in colonic specimens from patients with @DISEASE$ (HD), chronic constipation (CC), or @PHENOTYPICFEATURE$ (AA).	false
+c0416c8457b183d780752464a8a5b3c7cc20815e	The human ortholog of the gene responsible for audiogenic @PHENOTYPICFEATURE$ susceptibility in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie @DISEASE$ (USH2C).	false
+0a745db8d330be0e13f5ebb850143021e65ac7d6	In the partial superficial parotidectomy group, @DISEASE$ symptoms were @PHENOTYPICFEATURE$ and increased sweating and burning sensation on the face in 7 patients (21.9%,	false
+e8121afe40accccf8c972c6bc8d7193dafe6e5d2	The prevalence rates of the other less common neurological disorders were 62 for hemiparesis (15 of which were for cerebrovascular accidents), 20 for cerebral palsy, 16 for @PHENOTYPICFEATURE$, 12 for perceptive deafness, 10 for tropical spastic paraparesis, 7 for Parkinson's disease and 5 for motor neuron disease, ataxia and @DISEASE$/athetosis.	false
+0ba987022943f71cd2af62574a3207761985f503	Clinical features include cataract, loss of vision due to @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis.	false
+d95135688d47e7a81f57b893bdf7ff0e6e8b091e	Experimental serous and hemorrhagic uveal @PHENOTYPICFEATURE$ associated with @DISEASE$ surgery.	false
+1375ee94266c13d062be99d6d20508554906f24a	Complications included endophthalmitis, hypotony disc @PHENOTYPICFEATURE$, and @DISEASE$.	false
+348cb470f58687eb57ff5012a3c2fec8997520b4	Choroidal @PHENOTYPICFEATURE$ associated with @DISEASE$ repair: experimental and clinical correlation.	false
+9c3e05774b803c922114ebaed5e5c5610d086034	Characteristics of the disorder include a short trunk and extremities, mid-@PHENOTYPICFEATURE$, cleft palate, myopia, @DISEASE$, and hearing loss.	false
+d9282e80e1598b03c9df914cb850e3062edb851b	Detailed ocular evaluation revealed exudative @DISEASE$, subretinal abscess, and disk @PHENOTYPICFEATURE$.	false
+15ee622b1ff61470e223f13c3befbee99353d9fb	There would be no @PHENOTYPICFEATURE$, hemorrhage, or @DISEASE$.	false
+496e3e2c7dbaa7ca7247506b00c720ecc9c7363d	Ectodermal dysplasia, @PHENOTYPICFEATURE$, and clefting syndrome and bilateral @DISEASE$.	false
+0b46e81845e27860e6e05b12adb0446db5b6d03a	Clinical features of the proband include bilateral @DISEASE$, @PHENOTYPICFEATURE$, severe psychomotor retardation without verbal language skills acquired, and epilepsy.	false
+d94ef3881e0cfdbfc6a6e7d49601cac0496745ae	Optic disc @PHENOTYPICFEATURE$ and serous @DISEASE$ were present.	false
+a13ef9d8173d3ac00462aabe1e4925a540575d42	We report a 31-year old woman with classic, neonatal-onset @DISEASE$ who developed progressive hypertrophic cardiomyopathy and @PHENOTYPICFEATURE$, neither of which has been recognized previously as a complication of the disease or a consequence of long-term drug treatment.	false
+c3f665ab1afc29c2f2462e89601d9e0adad1e4dc	Meier-Gorlin syndrome (MGS) is a rare autosomal recessive @DISEASE$ disorder, characterized by microtia, patellar applasia/hypoplasia, and a @PHENOTYPICFEATURE$.	false
+cbf953e06967cd99a820904d32d60c3288664221	@DISEASE$ is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to @PHENOTYPICFEATURE$ as the most striking clinical symptoms.	false
+422bc20dc4f2868d738ab77fbc2487c1824b8105	Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced @DISEASE$, macrodactyly and @PHENOTYPICFEATURE$.	false
+89e7bb55394ecc5914474298dc699ab1934520ad	The following risk factors were taken into consideration for statistical analysis: age, symptomatic, male gender, nicotine abuse, hypertension, @PHENOTYPICFEATURE$, polyvascular disease, diabetes, restenosis after carotid endarterectomy (CEA)/@DISEASE$, calcified internal carotid artery.	false
+9f2b416afda3658c41d049bf36e040d433e80223	@PHENOTYPICFEATURE$ verrucosum, Suillus luteus and two isolates of Rhizopogon luteolus were grown in solid and liquid modified Melin-Norkans (MMN) media with and without iron addition and the production of iron-chelating compounds was determined by Chrome Azurol S (@DISEASE$) assay.	false
+4b3ea7d6b801270798248d5e6f1591a7503f1d4a	More than one of every five patients with known @PHENOTYPICFEATURE$ and heart disease had occult @DISEASE$.	false
+0fa3cb5d7d53505b9ac7a010f9db68a6f632315c	To obtain neuroanatomical evidence of limbic system abnormality in @PHENOTYPICFEATURE$, we measured the cross-sectional area of the area dentata (AD; dentate gyrus + CA4) and combined area of the subiculum and CA1-CA3 (@DISEASE$) using in vivo MRI.	false
+601f809c5513e733a3352a08c96e067185a88ddc	Co-occurring neurodevelopmental conditions (e.g., @PHENOTYPICFEATURE$) and non-verbal IQ did not correlate with the presence of @DISEASE$.	false
+094d26895d91247c58445cc29714daf49c44509b	Several single genes and copy number-variant conditions are now associated with @DISEASE$ either in relative isolation, as in the case of FOXP2 variants, or most typically in association with other neurodevelopmental conditions, such as epilepsy, intellectual disability, motor impairment and @PHENOTYPICFEATURE$.	false
+64a262257d3ab3c225d232c9de05bc99882e95ba	Primary pulmonary sarcomas (@DISEASE$) are rare types of non-epithelial malignant tumors of the lungs (0.013-1.1% of all malignant @PHENOTYPICFEATURE$).	false
+41d699e844bce8775c43d674e2deefe3b7e2a73f	Hallmark features of MSA include progressive exercise intolerance during childhood, onset of sideroblastic anemia around adolescence, basal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9a9fcb51e5f2b2ff158072e85072071d6923c3e4	However, of patients presenting with ocular @PHENOTYPICFEATURE$ or proximal muscle weakness who had little or no CNS involvement clinically, 8 of 22 had abnormal EEGs and 5 of 10 had abnormal EPs, suggesting that electrophysiological tests are of value in demonstrating subclinical CNS disease in @DISEASE$, although the abnormalities are not specific.	false
+7c07bd7701d3b65e660b98829fa5170d40ca6b7a	The patients were consisted of 2 patients with KSS, 1 patient with probable KSS, 15 patients with ocular @PHENOTYPICFEATURE$, 1 patient with myoclonus epilepsy with ragged-red fibers (MERRF), 6 patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), 5 patients with undefined mitochondrial encephalomyopathy and 8 patients with @DISEASE$.	false
+3923204c456a5411bbefe7a8a7777dccd4310ac1	We studied mitochondrial mutations and cardiac changes in 17 patients with Kearns-Sayre syndrome; ocular @PHENOTYPICFEATURE$; myoclonus epilepsy with ragged red fibers (MERRF); and @DISEASE$, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).	false
+3d507e2f0b148a658f862e7356a13791f34cca72	Although only a small minority of patients with @PHENOTYPICFEATURE$ have a mitochondrial disease, many patients with @DISEASE$ have autism spectrum disorder symptoms, and these symptoms may be the presenting symptoms, which presents a diagnostic challenge for clinicians.	false
+85d41c53ac2a25f2908e76a8751ea4ca07f7eb2e	We describe an adult patient with @DISEASE$ associated with a relatively mild clinical phenotype comprising myopathy; demyelinating neuropathy; premature ovarian failure; @PHENOTYPICFEATURE$; hearing loss; pigmentary maculopathy; and renal tubular dysfunction.	false
+58f869762a2f5ef37d6b0d1c6fe6b4cd6dc3bdd1	Stress-induced cardiomyopathy or @DISEASE$ is a recently increasing diagnosed disease manifested by transient apical or mid left @PHENOTYPICFEATURE$ and dysfunction.	false
+d1205a804d7a57625c4f08697394b121587a2e77	The initial differential diagnoses included myocarditis and @DISEASE$ (TCM) owing to a positive troponin I, and echocardiogram with left @PHENOTYPICFEATURE$, dyskinesia in mid-ventricular and apical segments, systolic dysfunction, and functional mitral regurgitation.	false
+655b800626f99ac46bcba5018468a5c8c162733e	Stress-induced cardiomyopathy or @DISEASE$ is a recently increasing diagnosed disease showed by transient apical or mid left @PHENOTYPICFEATURE$ and dysfunction.	false
+e80a0391bf30a5e987d72ee460869a0317519e33	Symptoms at presentation included headaches (83%), hyperprolactinemia (38%), central hypothyroidism (21%), galactorrhea (13%), diabetes insipidus (13%), @DISEASE$ (13%), central adrenal insufficiency (8%) and @PHENOTYPICFEATURE$ (8%).	false
+6830b13225a5133eeec4c2fa9233fae774e4a181	Atypical expression of @DISEASE$ in a child with Hurler-like features but without @PHENOTYPICFEATURE$.	false
+4d18dc305b07b5d8db7f6562d0cf28683e02c8d9	QT prolongation and @PHENOTYPICFEATURE$ may be associated with potassium channel dysfunction in patients with @DISEASE$.	false
+e2fd17f527131267c0587dfd240b4e24ee02e93e	A girl who presents most features of @DISEASE$ together with @PHENOTYPICFEATURE$ is described.	false
+169b26561b972645d4c1ba214b744da30b86c980	The clinical features of @DISEASE$ include variably, lacrimal system hypoplasia, ear anomalies (with or without @PHENOTYPICFEATURE$), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly.	false
+2915ad065bbc1046df12337056579b938e57897c	Management of @DISEASE$ with oral desmopressin in a patient with @PHENOTYPICFEATURE$ and cleft lip/palate (ECP) syndrome.	false
+7053907cf48ef8443056bfe72d362bb7a907a4fe	In the present case, the underlying diabetes mellitus, urinary incontinence due to @DISEASE$, undernutrition, and @PHENOTYPICFEATURE$ served as the predisposing conditions.	false
+8b3157c8f02dbb997475c3c6fc433d6f2cd0e68d	We present a female infant with facial abnormalities such as bilateral cleft lip and palate, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+96468891157c6917477a3eb763e4c53b0767197a	We present a female infant with @PHENOTYPICFEATURE$ such as bilateral cleft lip and palate, ectrodactyly and @DISEASE$.	false
+9e96ba6dc32575489cfc2dc3c90e9ea48175a449	A 2-year-old girl with alobar holoprosencephaly associated with @PHENOTYPICFEATURE$, @DISEASE$, and a neuronal migration disorder is reported.	false
+a3b2cc3c3c9fdacd3594a3c6534abdfd91b8db11	A boy presented with @PHENOTYPICFEATURE$ (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and @DISEASE$.	false
+cd19439e8d378b4cd792799a22fc9835dda02929	A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and @PHENOTYPICFEATURE$, associated with congenital hypogonadotropic hypogonadism and @DISEASE$.	false
+31b6e09f969cba100cebb036c222ad3724620a8b	Histological analysis demonstrated that intestinal neutrophilic inflammation, @PHENOTYPICFEATURE$ and tissue damage in mice during acute and severe @DISEASE$ were not modulated in the absence of LTs.	false
+913327cbae02ea5e3c3eb734f8d88a226170888a	@DISEASE$ (malignant atrophic papulosis) is a rare multisystemic disease with characteristic cutaneous lesions, @PHENOTYPICFEATURE$ and often rapidly fatal course.	false
+e3c807565beb8a0e8cb595693304c2c3dcbc663c	Degos' disease (@DISEASE$) is a rare multisystemic disease with characteristic cutaneous lesions, @PHENOTYPICFEATURE$ and often rapidly fatal course.	false
+400be502a1412bf9133ea106564ed60b529d3420	@DISEASE$ disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) are autosomal dominant renal disorders characterized by tubulo-interstitial fibrosis, @PHENOTYPICFEATURE$ and medullary cysts.	false
+f9905d8f60e93dd0c0e2e6bc6725bc22c22e7b60	Autosomal-dominant juvenile @PHENOTYPICFEATURE$, gouty arthritis, medullary cysts, and progressive renal insufficiency are features associated with familial juvenile hyperuricemic nephropathy (FJHN), @DISEASE$ disease type 1 (MCKD1) and type 2 (MCKD2).	false
+857ee17194047ce1f7e0c92c815c10629d802a38	Autosomal dominant @PHENOTYPICFEATURE$, gout, renal cysts, and progressive renal insufficiency are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy and @DISEASE$ diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear.	false
+f60f1fbb46796f383984fb9652f4e62846c1c88f	Uromodulin gene (UMOD) mutations have been linked to rare forms of mendelian dominant @DISEASE$ disease and familial @PHENOTYPICFEATURE$.	false
+a1961bf24264ce02c50c7d427cac0e53dfba7d51	SHOX haploinsufficiency has been demonstrated in @DISEASE$ (LWD), a @PHENOTYPICFEATURE$ associated with disproportionate short stature, as well as in a variable proportion of cases with idiopathic short stature (ISS).	false
+e684754a9fbc843e78093d7caf988db37bbf9606	The probands were ascertained for a variety of reasons: hypotonia and features of Asperger syndrome, @DISEASE$ (LWD), and a family history of @PHENOTYPICFEATURE$.	false
+ba46111d3cee37b2f639090b19d1e3602d512677	@DISEASE$ is a clinically variable @PHENOTYPICFEATURE$, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3'-flanking region.	false
+5a2a66c9e2f75fc367588693a882e36e801b8f78	@DISEASE$ (LWS) is a dominant (pseudoautosomal) @PHENOTYPICFEATURE$ with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the distal radius.	false
+00c536a364a0f8abed8f9a312b193c710c93e9a6	@DISEASE$ (LWD) (MIM 127300) is a dominantly inherited @PHENOTYPICFEATURE$ characterized phenotypically by Madelung wrist deformity, mesomelia, and short stature.	false
+39b6aaed49da0464bd5bf173155b90287e6d8114	The impressive preservation and meticulous recovery of these skeletal remains have provided the opportunity to identify the first and earliest archaeological example of an individual (EZ 3-7-1) with a combined genetic @PHENOTYPICFEATURE$, @DISEASE$ and achondroplasia.	false
+dd093e954d416af2a05aff7c9151e6fcb185e562	To evaluate the growth disorder and phenotype in prepubertal children with @DISEASE$ (LWD), a dominantly inherited @PHENOTYPICFEATURE$, and to compare the findings from girls with Turner syndrome (TS).	false
+28d567f40366f8e5d9299d78bd4d448f93ff13e4	@DISEASE$ (LWS) is a @PHENOTYPICFEATURE$ with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency.	false
+3640b27bdbfa1041f1502093f550cb1623ee6534	Mesomelic and @PHENOTYPICFEATURE$: The phenotype of combined @DISEASE$ and achondroplasia or hypochondroplasia.	false
+3072507fa3425c0d7f04192a0c426b82cf161388	We describe a family in which two sisters with the autosomal dominant @PHENOTYPICFEATURE$, @DISEASE$ (LWD), developed Hodgkin's disease (HD) in late adolescence.	false
+45ea17e1a1805c459ed99d20f47b05be5752fbe9	Development of severe @PHENOTYPICFEATURE$ during fever episodes in patients with hemoglobin E trait and @DISEASE$ combinations.	false
+5287ecc9d70f5946d0cb133f0377fbe5dad6ae09	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and @DISEASE$ and includes prominent @PHENOTYPICFEATURE$, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose.	false
+763b9fddfe6c45fce8c6b2c4114ad7d6288e2a0e	We included studies in children and adults of any age with dystonic cerebral palsy, either in isolation or with the associated @PHENOTYPICFEATURE$ of @DISEASE$, chorea, athetosis and/or hypotonia.	false
+259975a5744c166a1ca14d913630ced0b007f4d5	The clinical features include developmental delay, a childhood onset @PHENOTYPICFEATURE$ (chorea, dystonia, or tremor), and progressive @DISEASE$ or paraparesis.	false
+73031c31bdf2be534e904961d7d9d395eaf1e56b	Coexistence of @DISEASE$ and Friedreich @PHENOTYPICFEATURE$.	false
+a2436fcc5b7be877e3bb8906a3205b48698b0807	Etiology included cortical dysplasia with/without @PHENOTYPICFEATURE$ in 19 patients (83%), sole glioneuronal tumor in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+a1945c4d66f94ad301a1a9bf8335be0f596d5b15	Etiology included cortical dysplasia with/without glioneuronal tumor in 19 patients (83%), sole @PHENOTYPICFEATURE$ in 2, and @DISEASE$ and Rasmussen encephalitis in 1 each.	false
+73f78a75e8d28607a0835ccd46c8cd997852a99a	This is the first report of such a widespread @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+527f910afb0a560d1d0b143f48d71d4447926530	The abnormality was sometimes associated with calcification (@DISEASE$) or malformation (@PHENOTYPICFEATURE$).	false
+34ffc289fa3c1fe42f2d91e5a6f233a656dd209c	These include subacute sclerosing panencephalitis, lead @PHENOTYPICFEATURE$, @DISEASE$, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis.	false
+b16dd2f8cd213ae69de6600ce7f3504ceb6926ad	@DISEASE$ (TSC) is a genetic disorder characterized by seizures, @PHENOTYPICFEATURE$, renal dysfunction and dermatological abnormalities.	false
+b36cf71d0261cb49d3a6679e50fe6285c718d1a4	@DISEASE$, @PHENOTYPICFEATURE$ and Lennox-Gastaut syndrome: mere chance or a new syndrome?	false
+81024e840636070a9eb3a65c654025717af94deb	Absence of @PHENOTYPICFEATURE$, extracranial hamartomas, and depigmented patches distinguishes familial bilateral periventricular nodular heterotopia (FNH) from @DISEASE$.	false
+c69310f7c183916546bf99df267591f74e33fb24	[Infantil myoclonic hypsarrhythmia @PHENOTYPICFEATURE$ and @DISEASE$].	false
+abc6c73bf942d120d200e1b492b20a28c34afc7b	Two of the patients had @PHENOTYPICFEATURE$ bearing some resemblance to cavernous angiomata, one had a tumor, one had tuberous sclerosis, and one the forme fruste of @DISEASE$.	false
+6574a870288ee0e7fb6fdf4d8a4bcf6084ee5945	Two of the patients had @PHENOTYPICFEATURE$ bearing some resemblance to cavernous angiomata, one had a tumor, one had @DISEASE$, and one the forme fruste of tuberous sclerosis.	false
+fbec08a981192f16e298a35dfcb3d25e7e38c132	Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel (AA/@DISEASE$) phocomelia syndrome are rare autosomal recessive inherited disorders characterized by aplastic/@PHENOTYPICFEATURE$ with ectopic dorsal palms, absence of humeri, hypoplastic ulnae, and bowed short radii with the elbow joints present, shown to result from missense mutations in WNT7A (p.Ala109Thr and p.Arg292Cys).	false
+45701544478461dff017f5cefd5a42f69f49ac4c	Resonance Raman spectroscopy (@DISEASE$) is an objective method to measure MPOD, and studies using RRS showed a drastic age-related decline of MPOD levels; however, since RRS measurements are influenced by @PHENOTYPICFEATURE$, it has been argued that the age-related decline of RRS measurements is an artifact from lens changes in aged subjects.	false
+5201e4c95aa0bf9203897de22733def6c21d0076	@DISEASE$ (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral @PHENOTYPICFEATURE$.	false
+645eb411e1d009455f2410573c34cad94db2adb9	A case of unilateral secondary localized @DISEASE$ is presented in a patient with bilateral interstitial @PHENOTYPICFEATURE$ and other stigmata of tertiary syphilis.	false
+d718e3467c82cdeec3a046a52ee82f114643aa1d	Some patients do not tolerate the @DISEASE$ mode because of inappropriate @PHENOTYPICFEATURE$, mainly related to postural changes.	false
+ff56cff0521c7bc5b2e51a444dd9aa821c89db45	Coffin-Lowry syndrome (@DISEASE$) is a well-described syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, recognizable dysmorphic features, and skeletal changes.	false
+fb7b8481fddd674b04d721175f32f1409126ac1f	@DISEASE$ (CLS) is a well-described syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, recognizable dysmorphic features, and skeletal changes.	false
+b1f97947007b5066382c7142c652e5ac4af5297d	@DISEASE$ (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and @PHENOTYPICFEATURE$, distinct facial phenotype, and progressive skeletal malformations.	false
+66d8721a64d99d1035816a43ef2de9a18f0e0e21	Coffin-Lowry syndrome (@DISEASE$) is a rare X linked mental retardation syndrome characterised by severe psychomotor and @PHENOTYPICFEATURE$, distinct facial phenotype, and progressive skeletal malformations.	false
+427350efe732e807d7cd755053460c065531d41b	@PHENOTYPICFEATURE$ are known to be associated with @DISEASE$.	false
+ad8a9892579c19c3fabfb2136e93a838a2facba6	The @DISEASE$ is an established syndrome of severe mental and @PHENOTYPICFEATURE$, characteristic dysmorphic features and skeletal anomalies.	false
+a220168ae3251cccc587a3da0561353fbe889327	The @DISEASE$ (CLS) is a rare but well-defined X-linked semidominant syndrome characterized by psychomotor and @PHENOTYPICFEATURE$, and progressive skeletal changes.	false
+27f1ca7d0acbf3ce7f181357da7c7fa432625947	The Coffin-Lowry syndrome (@DISEASE$) is a rare but well-defined X-linked semidominant syndrome characterized by psychomotor and @PHENOTYPICFEATURE$, and progressive skeletal changes.	false
+31feb2c218d241d6be461bd2eeaea56f6c912da8	Coffin-Lowry syndrome (@DISEASE$) is a syndromic form of X-linked mental retardation, characterized in male patients by psychomotor and @PHENOTYPICFEATURE$ and various skeletal anomalies.	false
+d0da2b671394d2fcb1b113488436d4edc89541c5	@DISEASE$ (CLS) is a syndromic form of X-linked mental retardation, characterized in male patients by psychomotor and @PHENOTYPICFEATURE$ and various skeletal anomalies.	false
+42bffea206059fb967281fe9c255da87c2d695f2	The large majority of patients with @DISEASE$ reported in the literature have splicing and missense mutations, which result in syndactyly, oligodactyly, and minor @PHENOTYPICFEATURE$.	false
+8982e36be20a632bdabba064230165e438799316	The Coffin-Lowry syndrome (@DISEASE$) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with @PHENOTYPICFEATURE$.	false
+e3a04b266b929fcf5fd6782fc18953de823c9613	The @DISEASE$ (CLS) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with @PHENOTYPICFEATURE$.	false
+176751101a7adcbe4c136628fdca3d812c5b0de7	Coffin-Lowry syndrome (@DISEASE$) is a rare inherited disease with specific clinical features, such as mental retardation, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+16328838ca6651a48f90058e17d146b0bfa86e17	@DISEASE$ (CLS) is a rare inherited disease with specific clinical features, such as mental retardation, facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+9180606d6caa01aff3096f45dd58ee4c3fe01606	Concomitant presence of clinical and biological signs, for example, @PHENOTYPICFEATURE$, pancytopenia, hyperferritinemia, and hypertriglyceridemia, should alert clinicians to suspect @DISEASE$ and proceed to prompt treatments.	false
+98778dfcc76c8fc0e3c5c32fc644f81ccb78c44f	Common clinical features of HFRS and @DISEASE$ include @PHENOTYPICFEATURE$, myalgia, thrombocytopenia, leukocytosis and a capillary leak syndrome associated with shock in most severe cases.	false
+9890002592aa0a99ee9a7486d0573873f0a09c99	In this article we report a case of Ki-1+ anaplastic T-cell lymphoma associated with @DISEASE$ in a 16-year-old woman who presented with @PHENOTYPICFEATURE$ and lymphadenopathy.	false
+2d5144c8f3b7c14da0cb57ccd97c2db713244e8c	The hemophagocytic syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, wasting, generalized lymphadenopathy, hepatosplenomegaly, and pancytopenia, often with associated coagulopathy.	false
+286a7082dfa6fd8e5b4cd8e7fc397ab17b58c4fd	The haemophagocytic syndrome (@DISEASE$) is clinically characterized by @PHENOTYPICFEATURE$, pancytopenia and hepatosplenomegaly.	false
+d86342f6473a13e706a1959e344794832782bbfd	@DISEASE$ is a frequently fatal disorder of immune regulation, characterized by @PHENOTYPICFEATURE$, histiocytic haemophagocytosis, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and coagulopathy; CP is a less common manifestation.	false
+8ddaeac1dc48c01baeb59ac37903af72777823af	@DISEASE$ should be considered when the patient presents with @PHENOTYPICFEATURE$, hepatosplenomegaly, pancytopenia, and liver failure.	false
+86c4ead97712c1310f5185236bdcbc5c0bde6a35	Hemophagocytic syndrome (@DISEASE$) presents with @PHENOTYPICFEATURE$, pancytopenia, liver dysfunction and increase in hemophagocytic histiocytes in various organs.	false
+5b6d97e4735479c9f538933c0b5c9a7d3b4608d6	Hemophagocytic syndrome (@DISEASE$) is an unusual acute syndrome presenting with @PHENOTYPICFEATURE$, hepatosplenomegaly, and cytopenias.	false
+91622099d7258c10b189d29779694ce557149955	We report a rare case of a patient that presented with @PHENOTYPICFEATURE$ and pancytopenia due to @DISEASE$ associated with Hodgkin's lymphoma (HL).	false
+bc8f7fa3ea55dd9edcb7dadbbbdde35725c07546	Were included, for this study, patients suffering from posterior urethral valves (n= 49), @PHENOTYPICFEATURE$ (n=21), central neurogenic bladder (n=13), bladder exstrophy (n=14), Prune Belly syndrome (n=12), @DISEASE$ (n=6), urogenital sinus (n=4) and other pathologies (n=4).	false
+c42526269a6c93177fe8defa1741e7854195a95d	We explored the characteristics of @PHENOTYPICFEATURE$ of @DISEASE$ (PME) in 2 brothers with dentatorubral-pallidoluysian atrophy (DRPLA).	false
+c239662350dfc8f19fb6e821e55d049a6ede5959	Lafora's disease is a @DISEASE$ and must be evocated if myoclonus, occipital @PHENOTYPICFEATURE$ and progressive cognitive impairment are present.	false
+5ef5bd9cabace203e997f8f2d1ecc745cad354e1	PER is effective in treating myoclonus and @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+ebcc25954646f3ec1ca2a0450c7030afb3d67170	Sustained @PHENOTYPICFEATURE$ remission on perampanel in @DISEASE$ (Lafora disease).	false
+6d54aa2016dc2e59777718aa117e59ae7ad8bc26	Lafora's disease is a form of @DISEASE$ characterized by @PHENOTYPICFEATURE$, myoclonus and dementia.	false
+d5074c5da7885a1af7e8b3ee68cae5465231922b	Role of levetiracetam in refractory @PHENOTYPICFEATURE$ due to a rare @DISEASE$: Lafora body disease.	false
+3aac56656d978970caa786c424f73e95a734fab2	Early visual @PHENOTYPICFEATURE$ and @DISEASE$ in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).	false
+acebfcaceb058836045eb8cb16dab9330e876e98	The frequency of @PHENOTYPICFEATURE$ compared with the past year decreased significantly in the @DISEASE$ patients, but not in the epileptic controls.	false
+47a209f2b2fb24d205d5fe58d561418a80f36f31	The related diseases include autosomal recessive @DISEASE$ - ataxia syndrome, neural tube defects associated with heterozygous mutations, @PHENOTYPICFEATURE$, polymicrogyria, and autistic spectrum disorder.	false
+5ab788320b86c6fcfd4a75e07457c62fc7b979ab	@DISEASE$, metabolic @PHENOTYPICFEATURE$, dystonia and tetany were suggested.	false
+6b94f1b65dbdf36653a6ebbb6d65d0e1c65de81e	@DISEASE$ (EDMD) is an inherited myopathy characterized by early @PHENOTYPICFEATURE$, slow progressive muscle weakness and cardiac involvement.	false
+1ccd4ab4a1bde0e87120e81975b42dd8316231cb	Emery Dreifuss muscular dystrophy (@DISEASE$) is an inherited myopathy characterized by early @PHENOTYPICFEATURE$, slow progressive muscle weakness and cardiac involvement.	false
+659fda2a7b66b7ea1d29e384595d4fa5a35f969c	@DISEASE$ in the evaluation of decreased spinal mobility and @PHENOTYPICFEATURE$.	false
+3375d578185b06e95352c79c6c29ea77c8610960	@DISEASE$ (EDMD) is a neuromuscular disorder resulting in progressive muscle weakness, @PHENOTYPICFEATURE$, and cardiomyopathy.	false
+d40a64e49cd7d2ef5c12ef224ba57882343f008d	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a neuromuscular disorder resulting in progressive muscle weakness, @PHENOTYPICFEATURE$, and cardiomyopathy.	false
+12099a5351c699f5453b91abf76becda12309f74	@DISEASE$ classically presents with @PHENOTYPICFEATURE$, early contractures, cardiac conduction abnormalities and cardiomyopathy, though the presence and severity of these manifestations vary by subtype and individual.	false
+c579d1d9a59b1613ee33b7aae92149d7c2259f6a	@DISEASE$ classically presents with muscle weakness, early @PHENOTYPICFEATURE$, cardiac conduction abnormalities and cardiomyopathy, though the presence and severity of these manifestations vary by subtype and individual.	false
+012bd84cd3a3297cad64b7299e8ebbefa3189a40	@DISEASE$ (EDMD) is a genetic condition characterized by early @PHENOTYPICFEATURE$, skeletal muscle weakness, and cardiomyopathy.	false
+0d74b2186697b3c07d6963d1551760bf12c5b47d	Emery-Dreifuss muscular dystrophy (@DISEASE$) is a genetic condition characterized by early @PHENOTYPICFEATURE$, skeletal muscle weakness, and cardiomyopathy.	false
+fdbaf5f053ed7017cd17e17ceed4c682e683ff54	Emery-Dreifuss muscular dystrophy (@DISEASE$) is an X-linked humero-peroneal muscular dystrophy associated with @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+e0a9b548e68b8413dab63b51a51d9ae65816ac9d	@DISEASE$ (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+5f5a83aebc8900ba1f54c476731c46f974716c7e	The diagnosis of Emery-Dreifuss muscular dystrophy (@DISEASE$) is suggested by the combination of musculoskeletal weakness and wasting, @PHENOTYPICFEATURE$, and cardiac disease.	false
+e0c2486a0bb33c34d9d6c452b302dd9a61922c92	The diagnosis of @DISEASE$ (EDMD) is suggested by the combination of musculoskeletal weakness and wasting, @PHENOTYPICFEATURE$, and cardiac disease.	false
+8c1c351212ea0fa0f8e2e3da173788de93ad3e68	@DISEASE$ (EDMD) is a hereditary muscular disorder, characterized by @PHENOTYPICFEATURE$, progressive muscular wasting and cardiac involvement.	false
+11c91df57de1e112536711387e10044653c76848	Emery Dreifuss muscular dystrophy (@DISEASE$) is a hereditary muscular disorder, characterized by @PHENOTYPICFEATURE$, progressive muscular wasting and cardiac involvement.	false
+66dce85967a12e1ad9dcf6a4b58432764a00860c	Among rare diseases caused by mutations in LMNA gene, @DISEASE$ type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, @PHENOTYPICFEATURE$, cardiomyopathy with conduction system disorders.	false
+7225c66f4251cec787e75a53678b8cd21a67910f	Among rare diseases caused by mutations in LMNA gene, @DISEASE$ type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by @PHENOTYPICFEATURE$ and wasting, joint contractures, cardiomyopathy with conduction system disorders.	false
+18d2fee25184aef4f3900d91c6301f60525878cf	Emery-Dreifuss muscular dystrophy (@DISEASE$) is characterized by the clinical triad of scapulohumeroperoneal @PHENOTYPICFEATURE$, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy.	false
+bd570caa37eaac88594467086e36b24538210955	@DISEASE$ (EDMD) is characterized by the clinical triad of scapulohumeroperoneal @PHENOTYPICFEATURE$, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy.	false
+e450c9ed88909b179c93e497348ef4c4938d0c08	@DISEASE$ (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, @PHENOTYPICFEATURE$, and cardiac defects that include arrhythmias and dilated cardiomyopathy.	false
+530b77c6b9648064492f0671fa421d4d795e4959	Emery-Dreifuss muscular dystrophy (@DISEASE$) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, @PHENOTYPICFEATURE$, and cardiac defects that include arrhythmias and dilated cardiomyopathy.	false
+0541e96b6a32433db1c36157bae71f589591551e	Such clinical conditions are often referred to as refractory anemia, paraoxymal nocturnal hemoglobinuria, hemolytic uremia and @DISEASE$, all of which could be categorized as the cancer @PHENOTYPICFEATURE$.	false
+e04c3bd2dcee33af4a3051704830d4227df5d16c	Finding the diagnosis in children with @PHENOTYPICFEATURE$ and a normal karyotype, whether or not associated with dysmorphic features, is important for defining an @DISEASE$ and for genetic counselling of the families.	false
+9b91f01067794f9849450b6c80a58749f03d8153	Then, we will present our patient, a 7-year-old boy with @DISEASE$ on treatment with cyclosporine, mycophenolate mofetil (MMF) and prednisone, with @PHENOTYPICFEATURE$ episodes and MRI finding in favour of PRES.	false
+7dc650bea7cfa3b2bd5ee780ad01d3c6292a6233	A 19-year-old male patient with @DISEASE$ was admitted to the hospital with the complaints of headache, convulsive @PHENOTYPICFEATURE$, and vomiting.	false
+465caa66fa44be9954a2e7c6d1811642b632920a	[Translocation (2:4)(46 XY, t (2,4) q31-33; q35) associated with @DISEASE$ in a patient with @PHENOTYPICFEATURE$ and Aarskog-like phenotype].	false
+2cdae265fc62bcdfb5df8b04cf910970ca4b314a	We report the autopsy results of a patient with celiac disease, @PHENOTYPICFEATURE$, and cerebral calcifications who died following a cerebral hemorrhage caused by Fisher-@DISEASE$.	false
+fc6d3daaa8cfd60a40f239f132063b5255b57cab	Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of @PHENOTYPICFEATURE$, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a @DISEASE$.	false
+0c062f67f1743a725390f88be6cb5993fa6f0586	The condition presents usually early in life, with features of severe global developmental delay, profound failure to thrive, (acquired) microcephaly, @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, hypopigmentation, and @DISEASE$.	false
+7caf8ba9effba6f6cda221b2773295ad55969f5a	Vici syndrome is a multisystem disorder characterized by @PHENOTYPICFEATURE$, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, @DISEASE$, failure to thrive, profound developmental delay, and acquired microcephaly.	false
+a391507e46b1dfaf900b4fd1093e142c08549a41	This disease is characterized by megaloblastic anemia of early appearance, @DISEASE$, @PHENOTYPICFEATURE$, and cognitive impairment.	false
+380bc0497f64bfa24e2076f1de73021dddf97ed4	Ataxia telangiectasia (AT, Louis-Bar-syndrome) is a rare autosomal-recessive inherited neurocutaneous syndrome characterized by @PHENOTYPICFEATURE$, occulocutaneous telangiectasia, @DISEASE$ and an increased risk of malignancies.	false
+cab0e14bd98e43e3216ec4d467865c43a26143f1	Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, psychomotor delay, and hypopigmentation.	false
+e9a5235a8c9b07b2942be22961cf6de159ffb57d	Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by @PHENOTYPICFEATURE$, cataracts, cardiomyopathy, @DISEASE$, developmental delay, and hypopigmentation.	false
+beb6aa2ac0d4756c93c1f3d9244861635ac005e9	A lower CD4+/CD8+ ratio was found in the cutaneous granulomas of patients with a primary immunodeficiency disorder (unclassified @DISEASE$, autoimmune lymphoproliferative syndrome and @PHENOTYPICFEATURE$ teleangiectasia) as compared with the patients with cutaneous sarcoidosis.	false
+9e849b49305a50aede380a8eaed7ce26e890fd13	We describe 2 brothers with a malformation syndrome consisting of @PHENOTYPICFEATURE$, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and @DISEASE$.	false
+d6eb0c5f0f5c1152a899c4a5a9ec0e2f9bde89a2	Four pediatric patients with diseases potentially curable by bone marrow transplantation (BMT)--i.e., common variable @PHENOTYPICFEATURE$, Wiskott-Aldrich Syndrome (WAS), @DISEASE$, and mucopolysaccharidosis type I received a conditioning regimen consisting of busulfan and cyclophosphamide prior to BMT from HLA-identical, mixed leukocyte culture (MLC)-unreactive siblings.	false
+173c2fde83a87d3321ced41f5708b6afaec6f94c	This study highlights reduction of number of myonuclei, a key regulator of the myofiber size, as a new pathomechanism underlying @PHENOTYPICFEATURE$ in the dominant @DISEASE$.	false
+ed886c57b6e3ca72e6266effad6f3740f822fe9c	Our results indicate that genetic deletion of Sln did not improve SERCA function nor rescue the @DISEASE$ phenotype, but did result in exacerbated @PHENOTYPICFEATURE$ and weakness, due to a failure to induce type II fiber compensatory hypertrophy and a reduction in total myofiber count.	false
+164ca4aef71d6344d4f85f992dc2b4a4226f49a9	In a recent study, we discovered that Pln overexpression (PlnOE) in slow-twitch type I skeletal muscle fibers drastically impaired SERCA function and caused a @DISEASE$-like phenotype, severe @PHENOTYPICFEATURE$ and weakness, and an 8 to 9-fold upregulation of SLN protein in the soleus muscles.	false
+ead347b8deaf074d43faea8159b0527041664057	We report a family in which an infant with @DISEASE$ presented in utero with polyhydramnios, poor fetal movement, and fetal @PHENOTYPICFEATURE$.	false
+f13bf28706ac066a17af5e459220deaaaab264e3	Histological analysis revealed evidence of skeletal @PHENOTYPICFEATURE$ and regeneration, necrotic fibres and a NADH-TR staining resembling @DISEASE$.	false
+51bf0fe8150f8558cfd2c3190626cdcb8a8eeb8e	The @DISEASE$ (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, @PHENOTYPICFEATURE$, fingernail hypoplasia, increased risk of neonatal death and of neoplasia.	false
+f5a8a7a03dded4a8e58c9ec4204b6a89c8c4f488	@DISEASE$ is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, fever, diarrhoea, @PHENOTYPICFEATURE$ and ascites.	false
+ed15343c68d6d6882b5fb37c3c12e051b8bdddce	@DISEASE$ (LDS) is an autosomal dominant connective tissue disorder characterized by @PHENOTYPICFEATURE$, cleft palate, dilation of the aortic arch, blood vessel tortuosity and a high risk of aortic dissection.	false
+c2621709d5b8850965768ceabde68000b17859c2	The propositus had the prototypic features of @DISEASE$ with a de novo @PHENOTYPICFEATURE$ in TGFBR2.	false
+e22b759055b0d1f53dac13149ae0e6b6b53c1edd	Autosomal recessive @DISEASE$ and @PHENOTYPICFEATURE$ in a large inbred family.	false
+ea0f3b73b866bcac02a4fd1c741de6305444e161	Histopathology revealed initial interstitial hepatitis, focal catarrhal @PHENOTYPICFEATURE$, and @DISEASE$ in the epiphysis of the left tarsometatarsus.	false
+780d27da0a5fe23c1fe63ec068939565af740753	@PHENOTYPICFEATURE$ in cases of @DISEASE$.	false
+47d78acc04a7fe5f3c37cb6d44acaf82c175a81f	Of these there have been five cases of palatal or @PHENOTYPICFEATURE$, none being bilateral @DISEASE$.	false
+b86806e05a345fac357fca80b41613e2953cc9cf	Common @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+865a459e2851f21aa893d81abf2273f568627460	Maxillary @PHENOTYPICFEATURE$ in children with @DISEASE$: a controlled study.	false
+606868d8299a8c0de92f815d88af529cf240eaf2	@PHENOTYPICFEATURE$ in children with @DISEASE$ in Western Australia.	false
+23de52195b4bd5d6ac19c720c42442609b646d04	@PHENOTYPICFEATURE$ in @DISEASE$: an unusual case.	false
+d651ed436e9f3a076d4a40d6e2896a0435a11642	[Caries, gingivitis and @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+c1e47c9d1226d7438c5c35b76c5e96940125c6e4	Prevalence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+738c13c28170fe10276e4c7a1e70b73d20a02287	@PHENOTYPICFEATURE$ in patients with familial and sporadic @DISEASE$.	false
+631fd9e1add0f59c3890b23f44d0ec43e9689f43	Other clinical features were @PHENOTYPICFEATURE$, kyphoscoliosis, rib anomalies, coalitio, @DISEASE$, eye anomalies, milia and syndactyly.	false
+472247752acaa25f5da6b96c784e78d69eece744	Other clinical features were frontal bossing, @PHENOTYPICFEATURE$, rib anomalies, coalitio, @DISEASE$, eye anomalies, milia and syndactyly.	false
+7c07d28e2cfd6b459b84dafd3b271557367bb4d5	@DISEASE$, deafness, ankylosis, and mild @PHENOTYPICFEATURE$ associated with a novel ANKH mutation in a consanguineous family.	false
+0d67e3265c37cb49f8ec2ca8b4208ad73ac5f4c1	Other distinguishing features in @DISEASE$ due to ZMPSTE24 mutations may include premature birth, renal disease, calcified @PHENOTYPICFEATURE$, and lack of acanthosis nigricans.	false
+e464ceb9b19428ba22fe958586bce7b370f46e88	@DISEASE$ in a patient presented with fever, @PHENOTYPICFEATURE$, and consciousness disorder.	false
+43c1627031a0287eb3430cec34cce7d658167703	Angiogenesis, @PHENOTYPICFEATURE$, and @DISEASE$ appeared to be increased in the uterine horn bearing pathological mass.	false
+b13dbf5bf2668514aa035563d9afe15a11762bd9	TVS allows to identify endometrial diseases (atrophy, polyps or diffuse hyperplasia), endometrial carcinoma, myometrial disorders (@DISEASE$, leiomyoma or @PHENOTYPICFEATURE$), and adnexal disorders.	false
+fe78de2d2dd4708e79d8c9eeb9fe4b97b70ba2d6	Coexistent MEFV and CIAS1 mutations manifesting as @DISEASE$ plus @PHENOTYPICFEATURE$.	false
+3a6abba3efaa0ead690236522f0924e4ea49ab5b	Although colchicine treatment for @DISEASE$ was planned, the patient had an untimely death due to @PHENOTYPICFEATURE$.	false
+ec120e949c9d9379b26437c94e798587f6100b8c	We report a case of living-related donor renal transplant recipient with @DISEASE$ and renal AA type amyloidosis, who died of progressive @PHENOTYPICFEATURE$ due to cardiac involvement.	false
+92a629110b28b6b85245b2b541d5ba5ec24d001f	Some studies have suggested that @DISEASE$ is associated with cardiac @PHENOTYPICFEATURE$ in adult FMF patients.	false
+ca755fc577df34e1f97cb39b6df3f5e13e934f89	Some studies have suggested that FMF is associated with cardiac @PHENOTYPICFEATURE$ in adult @DISEASE$ patients.	false
+641ca30c26239d57c21926a6025060e02d894938	Trisomy 18 at 11 + 0 to 13 + 6 weeks of gestation is associated with both mid-facial hypoplasia and @PHENOTYPICFEATURE$ or retrognathia that can be documented by measurement of the @DISEASE$ angle and MMF angle, respectively.	false
+5b47ab0c6842af6e692a6c872933936e500efbdd	It is, at the same time, close to systemic urticaria, sensory @PHENOTYPICFEATURE$, amylosis and specially amylosis of the @DISEASE$.	false
+96dbb69469e88b763fe9d8f77e3bbe07b12dbd74	Intermittent intestinal obstruction and @PHENOTYPICFEATURE$ were relieved by appropriate surgical intervention, but attacks of @DISEASE$ subsided only after colchicine therapy.	false
+4281f15ee31d78745b7b241471609db79e226c82	The investigation data observes that cardiac amyloidosis as a dominated morphological manifestation in @DISEASE$ can leads to @PHENOTYPICFEATURE$ and death.	false
+39823ba50dec78c6b94e1e7155f05d9604b4d7e6	Untreated @DISEASE$ can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and @PHENOTYPICFEATURE$ in children.	false
+8ed3136c40dd8646665763a6151623d6fb0f0157	Cardiopathic amyloidosis we established in thanatogenesis of @DISEASE$ manifested with @PHENOTYPICFEATURE$.	false
+fdc68f7bfba449512e7648dd2fe1a4c2d472c868	Anticonvulsant therapy based on use of phenylhydantoin, barbituric acid derivates, primidone and benzodiazepines, showed that control of @PHENOTYPICFEATURE$ in @DISEASE$ is more difficult and requires greater quantities of drugs than in the control group.	false
+20360119c476a839f266b7d0b1a6ab817968e74d	Predominant presentations are meningoencephalitis (trypanosomiasis), @PHENOTYPICFEATURE$ (cerebral malaria), or as single or multiple pseudotumoral enhancing lesions (toxoplasmosis, reactivated @DISEASE$).	false
+4c0d474cf2cebb7502258e4d995822c11930d659	@PHENOTYPICFEATURE$ and ST-segment elevation: @DISEASE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+5322fb7e3a9352183211380dfe22cf3f47457675	In order to evaluate the incidence of @PHENOTYPICFEATURE$, type of cardiac defects, and their impact in the @DISEASE$ (RTS), a questionnaire study was done.	false
+b57a22dc30110e4e3f218245b500ed7295cf674b	The homozygous mutation caused @DISEASE$-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, seizures, @PHENOTYPICFEATURE$, and detectable lesions in the midbrain and basal ganglia.	false
+09401349b943dccda9bbbff3a98e2af39e6e4265	No kinetic differences were observed between families with familial @DISEASE$ combined @PHENOTYPICFEATURE$, or genetically unclassified hypertriglyceridemia (all diagnosed by lipoprotein phenotypes).	false
+761e9fcdcfb01fba646bc28ded27922a3a23e564	When the subjects with primary hypertriglyceridemia were further subdivided by genetic diagnosis, there was no difference in the level of adipose tissue lipoprotein lipase of subjects with familial @DISEASE$ combined @PHENOTYPICFEATURE$, or in those in whom no specific genetic diagnosis could be made.	false
+f4e0ac5b32db48585057d0971b6d15157680d96b	Safe treatment of pulmonary hypertension with bosentan in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ae32f59826cc879e59d44ec807cadebb09f79e4f	This case indicates that, in pediatric @DISEASE$, white matter lesions may be associated with @PHENOTYPICFEATURE$, and they may be reversible after treatment.	false
+bdaa952c695c2e89ef8929a658597539c9a356bd	Neuroimaging revealed ipsilateral carotid and middle cerebral vascular narrowing without associated collateral vessels or @PHENOTYPICFEATURE$ commonly seen in @DISEASE$.	false
+374f4cd8dbb789e938ad7b892869f0781e641a5e	The authors analyzed by transmission electron microscopy (TEM) neurosurgical samples obtained from patients with cerebral tumors, neurotrauma, @PHENOTYPICFEATURE$, @DISEASE$, encephalitis, etc.	false
+c0bd5c4c764cd9b3bc2726cc36a692f2e3a22c64	We will also look into their significance in disease processes such as @PHENOTYPICFEATURE$, arteriovenous malformations (AVM), and @DISEASE$.	false
+4bf463020efb02e44d9b38cbb27078d0cf5dde80	Neurologic findings include mineralizing vasculopathy of the basal ganglia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+d389ab57e8ce39044a6999ab5549f1d5d3cd7ed6	@DISEASE$ (MD) is an occlu- sive cerebrovascular disease with risks of @PHENOTYPICFEATURE$ or hemorrhage.	false
+cf0407df141729825defae6bbaeed8a27762698f	Thyroid storm may cause @PHENOTYPICFEATURE$ in @DISEASE$, which can coexist in patients with Graves' disease.	false
+f74ef1ef9274d1cf02d91f26a98e120c9f2286a0	@DISEASE$ (MMD) is a rare arteriopathy associated with @PHENOTYPICFEATURE$, due to stenosis or occlusion of the internal carotid artery and its branches and primarily presenting with stroke.	false
+1fc93a04ba51d4697787d4a07985cdb0b5f1819d	Based on cerebral angiography and clinical symptoms, after excluding any other reasons of @PHENOTYPICFEATURE$, the patient was diagnosed with @DISEASE$ and arterial hypertension.	false
+ca9fe6fd913bb044d6fe510850b50da7d22db47b	There were 3 cardiac anomalies including ventricular septal defect, pulmonary artery atresia and tetralogy of Fallot, 4 musculoskeletal malformations, consisting of missing rib, polydactylia and complex distal @PHENOTYPICFEATURE$, 4 urological anomalies such as @DISEASE$, horseshoe kidney and dysplastic kidneys, 2 occipital encephaloceles, 2 congenital adrenal hyperplasia patients with ambiguous genitalia, 1 omphalocele, 1 albinism and 1 Klippel-Feil syndrome.	false
+bb07ba1ffedd8628c15058c9184dc8353ac627b5	@DISEASE$ (KCS) is a rare dysmorphologic syndrome characterized by @PHENOTYPICFEATURE$, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism.	false
+a89199937ee1dbd90d6c0750bef145d55413ade8	@DISEASE$ (KCS) is a very rare dysmorphologic syndrome characterized by @PHENOTYPICFEATURE$, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism.	false
+0cac9934fdf87f2649a558c49abcc32e0f2d9ef6	Its etiology includes chronic liver disease, @PHENOTYPICFEATURE$, alcoholism, and @DISEASE$ cirrhosis.	false
+7106d76ada156f6a1ad925acdd6a50842758bd0d	Symptoms related to @DISEASE$ cysts are rare and to cardiac @PHENOTYPICFEATURE$ very rare.	false
+cff8dc3bfe72b392caea72116fa48ab1a2ff3f86	Intestinal flora translocation and @PHENOTYPICFEATURE$ in upper gastrointestinal tract induced by @DISEASE$ failure.	false
+fe692b94a365e94f651457158ad1958258fcd4d4	In addition to @DISEASE$ dysfunction, patients had @PHENOTYPICFEATURE$, eyes, bones, central nervous system, kidney, endocrine system, and habitus.	false
+449711643e63f5fcdbf70f6ff108c93b4dde00e7	@DISEASE$ hemangioendotheliomas and @PHENOTYPICFEATURE$.	false
+672d52e527486d92531192adbb8ffea91a3e23b7	Plasma perfusion with the anion exchange resin BR-601 is an effective method to treat patients with @DISEASE$ failure and @PHENOTYPICFEATURE$.	false
+71fd134a7e358bcd1895e14076822df51c9addde	A case of gallbladder carcinoma in a 75-year-old woman with familial @PHENOTYPICFEATURE$ and preoperative @DISEASE$ dysfunction is presented.	false
+ff91a66dec6fa55b20f7f7c1982d74e00d2b3f0a	Transient @DISEASE$ dysfunction, @PHENOTYPICFEATURE$, and nausea with vomiting were additive in the combination drug arm, the last two limiting therapy most.	false
+ee2efbec071bbf45573a27eb41016425bf80d073	Clinical complications tracked included bleeding, @PHENOTYPICFEATURE$ (e.g., arrhythmias, tachycardia unrelated to pain, bradycardia), hemolysis, @DISEASE$ dysfunction, renal dysfunction, thromboembolism (neurologic or peripheral), or infection.	false
+18ad3e50aef10bf4aa5be9baad44e2f018c7f462	This PA system could provide a possibility for an improved supportive therapy for @DISEASE$ failure, especially for patients with hepatic coma and @PHENOTYPICFEATURE$.	false
+31f925cffaf83c828cbc67877f546ab60b296a47	@DISEASE$ and associated @PHENOTYPICFEATURE$.	false
+803ba34f1c92a4957d6d8258a4e22d9bb6434931	High dose BFA-treated cells showed ultrastructural similarities to those seen in the @PHENOTYPICFEATURE$ @DISEASE$.	false
+59db17a8066bf2f2303ed61b82ec8c6c49692d8b	Lack of secretion of a TGF-beta family member GDF5 is known to underlie some @PHENOTYPICFEATURE$, such as @DISEASE$ that is characterized by a huge and unexplained phenotypic variability.	false
+77d5e8a0456b1c63a2d1c3af7df83522b754fb1a	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in @DISEASE$ and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant @PHENOTYPICFEATURE$ characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+9112e1f2ff58ed9cd9566cdb1c04e1722ecce892	When kidney failure @DISEASE$, patients are at risk for fluid overload states, which can cause @PHENOTYPICFEATURE$, pleural effusions, and upper airway obstruction.	false
+10964df8f1414b12b6c4de2a63e4a58be1333592	If this balance is disturbed, either @PHENOTYPICFEATURE$ or hypouricemia @DISEASE$.	false
+1210d668d7a0372f750c12671c9922aec6464583	Achondroplasia is a @DISEASE$ with extreme, @PHENOTYPICFEATURE$.	false
+454e46a77620385d97c60673eff628fc2f534d31	Hypochondroplasia (HCH) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$.	false
+15c96f1df9f3a26a507cf1792a6db708eb0441c0	L?ri-Weill dyschondrosteosis (LWD) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ and the Madelung deformity of the forearm.	false
+fa8dbf69b1b1d45313361487e99a01348845b6a0	Dolichospondylic dysplasia (DD) is a rare @DISEASE$ primarily characterized by tall vertebral bodies and @PHENOTYPICFEATURE$.	false
+e5b793431a44535b3f99c38c6b564779caa69d2f	Pseudoachondroplasia (PSACH) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$, small hands and feet, abnormal joints and early onset osteoarthritis.	false
+4497f4cce25bdf1a329acf64d6d1e76001c669fc	Diastrophic dysplasia (DTD) is a recessively inherited form of @DISEASE$, presenting with @PHENOTYPICFEATURE$ and multiple orthopedic problems.	false
+196afb05c796f9c50f6077379ac0cebe4736a363	Achondroplasia is the most common form of @DISEASE$, resulting in @PHENOTYPICFEATURE$, and affects over 250,000 people worldwide.	false
+8c170d7090e8c98c00db422325ae742701a00343	Hypochondroplasia is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$.	false
+ef8d1d16707a678816cb5fcfa26e1748899a4ffc	Pseudoachondroplasia (PA) is an autosomal dominant @DISEASE$ characterized by @PHENOTYPICFEATURE$, generalized ligamentous laxity, irregular epi-metaphyseal ossification, and vertebral anomalies that regress with age.	false
+bda1072254b922f282324b3fa66ccc97f3ae85e9	Pseudoachondroplasia (PA) is an autosomal dominant @DISEASE$ characterized by disproportionate short stature, generalized ligamentous laxity, irregular epi-metaphyseal ossification, and @PHENOTYPICFEATURE$ that regress with age.	false
+58d85656888f8d040c3dcdbf480fb339221448e9	L?ri-Weill dyschondrosteosis (LWD) is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ and Madelung deformity.	false
+54f6e85fee1953727dc890c5a40ff30f2d8a19f8	Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with @DISEASE$) had marked @PHENOTYPICFEATURE$ and hirsutism and excreted pregnanetriolone in their urine.	false
+ec5fd7c5275ace3d6d73ae25297e6503bae99907	Three otherwise healthy relatives of patients with congenital adrenal hyperplasia (@DISEASE$) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with CAH) had marked @PHENOTYPICFEATURE$ and hirsutism and excreted pregnanetriolone in their urine.	false
+c75b607ba21e87118882e7f8d421d579d71b7221	Three otherwise healthy relatives of patients with @DISEASE$ (CAH) due to 21-hydroxylase deficiency and salt-wasting presented with clinical and/or biochemical findings, which exceeded those usually seen in heterozygotes: Two females (1 mother and 1 prepubertal sister of a patient with CAH) had marked @PHENOTYPICFEATURE$ and hirsutism and excreted pregnanetriolone in their urine.	false
+513e9ffa6e3a8206e74dd0780156c08b28ba228a	Recently, in three unrelated boys, @DISEASE$ was associated with intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$ and genital abnormalities, defining a new association called IMAGe.	false
+5dbe464104ae2a47f7770449710816e22ee39af8	Hormonal activity of the tumour was manifested in a pronounced hypercorticism with a marked @DISEASE$, atrophy of sex organs and general virilization, @PHENOTYPICFEATURE$, osteoporosis, signs of diabetes mellitus, lipid hepatosis and other symptoms of a grave Itsenko-Cushing' syndrome followed by a fever.	false
+3202d3b67aadc0d6c8deb66edf00e4d58d0b2dc9	Endocrinopathies, such as polycystic ovarian syndrome, ovarian tumors, or @DISEASE$ or tumors, may be detected in some patients with acne, especially if acne is sudden in onset, associated with hirsutism or menstrual irregularities, or associated with cushingoid facies, acanthosis nigricans, patterned @PHENOTYPICFEATURE$, or deepened voice.	false
+25b91cc5803e72e6d994317e1e83a3f8a161bd53	The occurrence of @PHENOTYPICFEATURE$, ST and/or T (ST-T) changes in the EKG, histological damage to myocardium, gastric erosion, and @DISEASE$ were generally observed in the restlessness and threat groups but not in the searching-biting group.	false
+007058e1243dffbbf500245da5a4774f04984bd1	Using a simplified radioimmunoassay method for the determination of 17-hydroxyprogesterone (17-OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia (@DISEASE$) having ambiguous genitalia and/or @PHENOTYPICFEATURE$ with electrolyte disturbances.	false
+1c0462288acd72062124ed8acb75466c49707d82	Using a simplified radioimmunoassay method for the determination of 17-hydroxyprogesterone (17-OHP) concentration in blood dried on filter paper seven untreated cases of @DISEASE$ were identified among newborns and infants at risk for congenital adrenal hyperplasia (CAH) having ambiguous genitalia and/or @PHENOTYPICFEATURE$ with electrolyte disturbances.	false
+8366bb7b88d820fa1cec107b6ae9799b68cf7c5f	Using a simplified radioimmunoassay method for the determination of 17-hydroxyprogesterone (17-OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for @DISEASE$ (CAH) having ambiguous genitalia and/or @PHENOTYPICFEATURE$ with electrolyte disturbances.	false
+1f42ffbea55bff4eae612f7c599381352386ce8e	In this article, we report a case of @DISEASE$ and Schmid @PHENOTYPICFEATURE$.	false
+660a7603ecf9e0b57f5ae53eb0d631ef46237e93	This case report describes the diagnosis of Cushing's syndrome due to macronodular @DISEASE$ in an elderly woman who presented with fatigue, muscle weakness and @PHENOTYPICFEATURE$, and recent excessive bruising.	false
+7773793733608f81d3c7e0e8decd7075e920f7aa	Temporal lobe, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+608a3c45f3c996fc91fe377fae7379de762b4bbc	Regional callosal morphology in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cf3140f405f14cc72f3267cb99816647e1cfafc2	@DISEASE$, feeding problems and @PHENOTYPICFEATURE$ in early infancy.	false
+465fcebf89b45b82e05c6b3163f84717013b6e3f	Microcephaly and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+02e8aadb23f2e450524004f6da6583bb9b0f7f84	@PHENOTYPICFEATURE$ and macrocephaly in @DISEASE$.	false
+b99a71f6dfebdc0b04542b960851d1962a666de0	Microcephaly and @PHENOTYPICFEATURE$ are overrepresented in individuals with @DISEASE$ and are thought to be disease-related risk factors or endophenotypes.	false
+0ae366b77464bf44887f637b1c0ec7f2193f9859	@PHENOTYPICFEATURE$ and macrocephaly are overrepresented in individuals with @DISEASE$ and are thought to be disease-related risk factors or endophenotypes.	false
+8aad0c1c65c38e9e85e614ba222b98cdd5454fbc	Dominant HEPACAM mutations can cause either macrocephaly and mental retardation with or without @DISEASE$ or benign familial @PHENOTYPICFEATURE$.	false
+e02351c51c004b53f146c2c3acf8959ac7c08eb6	Dominant HEPACAM mutations can cause either @PHENOTYPICFEATURE$ and mental retardation with or without @DISEASE$ or benign familial macrocephaly.	false
+10bda0173c26f0c61f77d4250a91c845c815406f	ID, @DISEASE$, epilepsy, microcephaly, @PHENOTYPICFEATURE$, hypotonia, ataxia) have been made available for this challenge.	false
+7ed405e305509b86c476106f89fef505adb665d1	ID, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, macrocephaly, hypotonia, ataxia) have been made available for this challenge.	false
+fdedb0a9a55cb5d3677e237b8e58f0ee429dafd6	Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and @PHENOTYPICFEATURE$ with retardation and @DISEASE$.	false
+ce9cf067298c32a21157e8a701ce3530de6ac4cc	Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial @PHENOTYPICFEATURE$, and macrocephaly with retardation and @DISEASE$.	false
+8ab3c0f7c9a9879f03bfe13f43791cec8d98e615	Animal models suggest that defects in NSC proliferation and differentiation contribute to several brain disorders (e.g., microcephaly, @PHENOTYPICFEATURE$, @DISEASE$, schizophrenia, and Huntington's disease).	false
+8ba30a9473b8202e91b3b8acc00da2e5a3ded575	Animal models suggest that defects in NSC proliferation and differentiation contribute to several brain disorders (e.g., @PHENOTYPICFEATURE$, macrocephaly, @DISEASE$, schizophrenia, and Huntington's disease).	false
+92edc46186805b422016c74a1ba8c6314960138a	No patients with @DISEASE$ had @PHENOTYPICFEATURE$.	false
+1666e9667635bd41bb9c785a2a669fb096d1d08f	Novel phenotypes associated with a mutation have been described such as abnormalities of the pituitary gland and corpus callosum, colobomatous @PHENOTYPICFEATURE$, choanal aperture stenosis and @DISEASE$.	false
+af2d340097469a5907095e6593f1fac6b3b9bf64	Novel phenotypes associated with a mutation have been described, such as abnormalities of the pituitary gland and corpus callosum, colobomatous @PHENOTYPICFEATURE$, choanal aperture stenosis, and @DISEASE$.	false
+756fb80fce7582596a9c8268229c379a28cd63d4	Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with @PHENOTYPICFEATURE$, neural tube defects, and @DISEASE$ with or without palate.	false
+e18c7f06ef5601fb125e28493185c95cc42c23c3	We encountered a rare case of a 22-month-old girl with @DISEASE$ characterized by progressive motor weakness and @PHENOTYPICFEATURE$, who initially showed signs of aspiration at 20 months of age.	false
+8eaee332dff89952541c4bf3fd34d748dfe1b994	@DISEASE$ and @PHENOTYPICFEATURE$ result in severe bone loss: a case report.	false
+6300430d5e5f22830ef133e3816ef334b450ec83	Severe @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+28a16b455951ccff9019b97e57a10ec2378b3709	@DISEASE$ of the retroperitoneum: a rare cause of @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+94c7c0ee8d63699479daf1053add36fea8c53a62	Besides @PHENOTYPICFEATURE$ and short stature, all patients showed only minimal manifestations of the holoprosencephaly (HPE) spectrum and only one displayed symptoms of the @DISEASE$.	false
+42721d2c8bd9ff3a5bd0513437f682b6c5663d99	Case of meningothelial @PHENOTYPICFEATURE$ with dermal melanocytosis in a patient with @DISEASE$.	false
+b3a9b1d47ab8bdffd89f80a0ebd112b86acba3f0	A predominant corticospinal dysfunction is evident in @DISEASE$, along with milder cerebellar signs, intellectual disability of variable degree and rare @PHENOTYPICFEATURE$.	false
+5c03c0f70ae80281512e101efbd5bffa61955579	Since advanced skeletal maturity can impact the strategy for surgical realignment and magnitude of planned (over)correction of @PHENOTYPICFEATURE$, preoperative assessment of bone age should be considered when managing children with @DISEASE$.	false
+d1221376b8fced2cb0ab33bd2bfed0093dc81b73	To assess multiplanar @PHENOTYPICFEATURE$, children with previously untreated early- and late-onset @DISEASE$ who subsequently needed surgical correction were identified.	false
+47747aa688eeed53901481af20a053dc0db3e7b8	Two clinically distinct forms of @DISEASE$ (early-onset and late-onset), based on whether the @PHENOTYPICFEATURE$ develops before or after the age of four years, have been described.	false
+f8a86a17baaf0425ae6b3322c967e717ba68c7dd	The goal of our study was to assess whether children with @DISEASE$ had lower body mass index (BMI) after surgical correction of their @PHENOTYPICFEATURE$.	false
+07678207ab754f72df092181623ad30beaddf0c9	Intracranial microvascular decompression for "cryptogenic" hemifacial spasm, trigeminal and @DISEASE$, paroxysmal vertigo and @PHENOTYPICFEATURE$: I. Surgical technique and results.	false
+f5c5a90ebe4d123edd8d5059a2c6bfc178e75bc9	Outcome after microvascular decompression for typical trigeminal neuralgia, hemifacial spasm, @PHENOTYPICFEATURE$, disabling positional vertigo, and @DISEASE$ (honored guest lecture).	false
+49e5798ea74edb668d3779937b2b0be0d9322951	The similarities between typewriter @PHENOTYPICFEATURE$ and other cranial nerve syndromes associated with vascular compression (trigeminal neuralgia, hemifacial spasm, and @DISEASE$) suggest that surgical decompression of the auditory nerve can relieve medication-refractive cases of typewriter tinnitus.	false
+e27559296fc60a0c1ff8893812382a27a55cbb89	Trigeminal neuralgia, facial spasm, @PHENOTYPICFEATURE$, vertigo, and @DISEASE$ are believed to be the symptoms complex of hyperactive dysfunction of the cranial nerve caused by vascular cross compression at the root entry (exit) zone of the appropriate nerve.	false
+070c05d73903101eaa642669ea072802ff9e1e82	Symptoms of trigeminal or @DISEASE$ (somatic sensory), hemifacial spasm (somatic motor), @PHENOTYPICFEATURE$ and vertigo (special sensory), and some cases of 'essential' hypertension are caused by these vessels compressing cranial nerves V, IX-X, VII, VIII, and left X and medulla oblongata.	false
+34dc36beee01e1ab7db4fd56e65b7db784a0a975	MVD is also an effective treatment for @DISEASE$ (GPN), and recently MVD has been shown to be an effective treatment for particular types of vertigo (disabling positional vertigo, DPV) and certain types of @PHENOTYPICFEATURE$.	false
+c559a411184b007f6f96342e1db1ccb82da1d9de	Symptoms of trigeminal or @DISEASE$ (somatic sensory), hemifacial spasm (somatic motor), @PHENOTYPICFEATURE$ and vertigo (special sensory) and some cases of "essential" hypertension are caused by these vessels compressing cranial nerves V, IX--X, VII, VIII, and left X and medulla oblongata.	false
+6d76a74e3813f84632414d05e7c57e78646ce636	The further investigations indicated that some other clinical syndromes such as @DISEASE$, disabling positional vertigo, @PHENOTYPICFEATURE$, geniculate neuarlgia, spasmodic torticolis, essential hypertension, cyclic oculomotor spasm with paresis and superior oblique myokymia also may be initiated by vascular compression of the glossopharyngeal, cochleovestibular, intermediate, accessory, oculomotor and trochlear nerves or the ventrolateral medulla oblongata.	false
+479767ad519fb558053baa2044f56170b44fb148	Intracranial microvascular decompression for "cryptogenic" hemifacial spasm, trigeminal and @DISEASE$, paroxysmal vertigo and @PHENOTYPICFEATURE$: II.	false
+772d8607aa8fb92af57f4e5e92846f39f49a3b6a	Overall, improvements in subscales of the Preschool Language Scale (@DISEASE$), Vineland Adaptive Behavior Scale (VABS), Aberrant Behavior Checklist (ABC) and @PHENOTYPICFEATURE$ symptoms questionnaire (ASQ) were seen.	false
+709ff2bcb34d21906ba5d06d187a7b44a9d7e5be	The reciprocal duplication leads to dup(17)(p11.2p11.2) associated with the Potocki-Lupski syndrome (@DISEASE$), a neurological disorder whose features include @PHENOTYPICFEATURE$.	false
+19b38277c2cd0808cb195ec5874f5e1e6b0475ec	Exosomes derived from keratinocytes modulate melanocyte pigmentation, which has been utilized as a novel mechanism for the regulation of pigmentation in conditions including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1ce6caf2c47e1f5ac3cf4d5f6ee32cb8fce41f03	The @DISEASE$ of Duane anomaly, radial ray abnormalities, and @PHENOTYPICFEATURE$.	false
+238ad091dfeede4521642c9c71addf39076ec35f	SAL-Like 4 (SALL4) gene mutations have been identified to be the cause of @DISEASE$ which is characterized by association limb and multiple other organ developmental defects including @PHENOTYPICFEATURE$.	false
+721af25a927d70f1349e3aec37b44b4981b2ef4d	Heterozygous mutant mice recapitulate phenotypic features of @DISEASE$ including @PHENOTYPICFEATURE$, lower anogenital tract abnormalities, renal hypoplasia, anencephaly, Hirschprung's disease, and skeletal defects.	false
+6d1e56791229f55a8341604bac9c2f7000574a26	In a patient suspected clinically to have @DISEASE$, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo @PHENOTYPICFEATURE$ in EZH2's partner protein EED.	false
+397d9f9124dd7f2b6cac0cc4c5d23ec99bdc7dea	The second breakpoint associated with holoprosencephaly, @PHENOTYPICFEATURE$ and @DISEASE$ syndrome was mapped 2.5 Mb proximal at 118.4 Mb and the candidate genes identified from this region were the insulin-induced protein 2 and the homeobox protein engrailed-1.	false
+b65b42f6150566b228a4e841a5ceb20c3ab126d0	A holoprosencephaly, @PHENOTYPICFEATURE$, and @DISEASE$ syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal.	false
+eb51ae589c1e299e5e155d38ab4ac1bc65c49f4d	Here, we review current knowledge of the regulation and function of PtdIns(4,5)P2 and discuss how aberrant PtdIns(4,5)P2-mediated signalling might contribute to human pathologies such as @PHENOTYPICFEATURE$, bipolar disorder, channelopathies and the genetic disorder @DISEASE$.	false
+5174c90239f763b0020a3330e3768e28355c5b80	Monogenic stone diseases will be classified into three groups according to their mechanism: (1) inborn errors of the metabolism of oxalate (primary hyperoxalurias), uric acid (hereditary hyperuricemias) or other purines (2,8-dihydroxyadeninuria), which, in addition to stone formation, result in crystal deposition in the renal parenchyma; (2) congenital tubulopathies affecting the convoluted proximal tubule (such as Dent's disease, @DISEASE$ or hypophosphatemic rickets), the thick ascending limb of Henl?'s loop (such as familial @PHENOTYPICFEATURE$ and Bartter's syndromes) or the distal past of the nephron (congenital distal tubular acidosis with or without hearing loss), which are frequently associated with nephrocalcinosis, phosphatic stones and extensive tubulointerstitial fibrosis; (3) cystinuria, an isolated defect in tubular reabsorption of cystine and dibasic aminoacids, which results only in the formation of stones but requires a cumbersome treatment.	false
+9cb4c4db5622826d78a699f51e9bbd8d0cea6d8b	A 23-year-old male with clinically diagnosed @DISEASE$ had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and @PHENOTYPICFEATURE$, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis.	false
+2870551f806f56bedc91945ccf9aacdc74bc37a5	@DISEASE$ (SMMD) is a rare @PHENOTYPICFEATURE$ with only a few cases reported in the literature.	false
+975b847e9237dc2f915f6f445bc1a562ceb1bda2	@DISEASE$ (SMMD) is an autosomal recessive @PHENOTYPICFEATURE$, characterized by disproportionate short stature with a short and stiff neck and trunk.	false
+e7648738513eaf0c314e3a9e3b5fd1d1fe19ac7a	The most common etiologies for @DISEASE$ were pneumonia (n = 17) and hemodynamic @PHENOTYPICFEATURE$ (n = 15).	false
+ffe99225e61753bfa510c9413df8252dfee4cfff	The most important causes of death in @DISEASE$ were @PHENOTYPICFEATURE$ (42%), sepsis (20%), and cardiac tamponade (10.4%).	false
+c798d24a64cb4ddeee9a917485f190ac0470936e	Mitral stenosis acute @PHENOTYPICFEATURE$ and @DISEASE$ pneumonitis: a hypothesis to an old enigma.	false
+bc6fdffb9a23c84c38bae1460706e987ee02fa2f	We retrospectively analyzed 3759 blood gas analysis and clinical parameters of 475 patients presenting with @DISEASE$ based on acute cardiogenic @PHENOTYPICFEATURE$ and/or pneumonia.	false
+684bacb140d66e164f6442d2b9cf097502c401b3	These include scarlet fever, tonsillar hypertrophy, and @PHENOTYPICFEATURE$, as well as postinfectious sequelae, such as @DISEASE$ (ARF), poststreptococcal glomerulonephritis, and guttate psoriasis (GP).	false
+8ba0f4f39840060e895626217e20c57c5ec77d4f	Unilateral @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bf8841f11becc07928557ab8ee2e12d2644b05a8	The most common causes of @DISEASE$ were bacterial pneumonia (35.5%), cardiogenic @PHENOTYPICFEATURE$ (24.5%) and extrapulmonary acute respiratory distress syndrome (ARDS) (15.5%).	false
+a070dd63b32681486b5d07b516b262b8007328c2	As invasive cardiovascular monitoring is not usually part of the obstetrician's armamentarium, many cases of @DISEASE$ may be mislabeled and mistreated as cardiogenic @PHENOTYPICFEATURE$.	false
+e2ca98d5472f4b07e29a684538eafd593bc5ac56	We found jaundice, anemia, hypoalbuminemia, hyponatremia, @PHENOTYPICFEATURE$, acidosis, leukocytosis, elevated transaminases (SGOT and SGPT) and cerebral malaria, were significantly associated with @DISEASE$ among patients with severe malaria (p < 0.05).	false
+600d49d3adc915811de69aee49d0b40909ad9f1a	Babies with @DISEASE$ have to be monitored for several metabolic derangements like hyponatremia, @PHENOTYPICFEATURE$, hypocalcemia, and acidosis and have to be managed accordingly.	false
+73fe3006890f8f77e1bd6b79550692eb4db3ba9f	CIC-DUX4 @PHENOTYPICFEATURE$ (@DISEASE$) is a group of rare, mesenchymal, small round cell tumours that harbour the unique CIC-DUX4 translocation, which causes aberrant gene expression.	false
+a609d587696a85ff558b2aa239c07f5d43dcbe1f	The existence of tethering tracts in @PHENOTYPICFEATURE$, other than congenital dermal sinus (@DISEASE$), has been recognized and has been summated into an integrated concept of limited dorsal myeloschisis (LDM).	false
+369e9f06f055a2985d550cf2dabaa4406fdb92ac	Congenital dermal sinus(@DISEASE$)is a rare entity of @PHENOTYPICFEATURE$, caused by the focal failure of disjunction leading to adhesion between the cutaneous and neural ectoderm.	false
+a609d587696a85ff558b2aa239c07f5d43dcbe1f	The existence of tethering tracts in @PHENOTYPICFEATURE$, other than congenital dermal sinus (@DISEASE$), has been recognized and has been summated into an integrated concept of limited dorsal myeloschisis (LDM).	false
+a28fb25b511a9b91fa4074612151bc768cbaf3f6	Background?Congenital dermal sinus (@DISEASE$) is an uncommon form of @PHENOTYPICFEATURE$.	false
+482eaf2f8fc6b72eb153dc87a4ee60aeba9c2c10	We outline the postulated anatomic lesions and pathophysiologic mechanisms underlying the OM syndrome, as well as examine the possible connections between the neuroendocrine derivation of medullary thyroid carcinoma and the neurotoxic and/or autoimmune theories of the causation of the @DISEASE$ in patients with systemic @PHENOTYPICFEATURE$.	false
+6d40438b78505e7705e865e7111af8a7a747c254	We outline the postulated anatomic lesions and pathophysiologic mechanisms underlying the @DISEASE$, as well as examine the possible connections between the neuroendocrine derivation of medullary thyroid carcinoma and the neurotoxic and/or autoimmune theories of the causation of the OM syndrome in patients with systemic @PHENOTYPICFEATURE$.	false
+65a6ffec499cd7111e9d57821ab7b6536b06da37	Familial @DISEASE$, steroid sulfatase deficiency, @PHENOTYPICFEATURE$, and nullisomy for Xp223-pter.	false
+b22ab5b93cd86e1fe495d40c525427980ca356bc	Familial X-linked ichthyosis, @DISEASE$, @PHENOTYPICFEATURE$, and nullisomy for Xp223-pter.	false
+d8252daef768a8e27c2a413d6981b81570302401	Therefore, @DISEASE$ may be associated with Kallmann's syndrome (KS), @PHENOTYPICFEATURE$, X-linked recessive chondrodysplasia punctata and short stature.	false
+0010f2be54d36665e5164236a5f420144810db5f	@DISEASE$, bilateral cryptorchidism, hypogenitalism and @PHENOTYPICFEATURE$ in two siblings.	false
+bed12c232bfb095a9e5708e1c63e2408e11c384d	[@DISEASE$ (XRI), @PHENOTYPICFEATURE$ and neuropsychiatric symptoms].	false
+29a2efa24bf9fc2d7e3ff9a533d6acfea8ba7095	To delineate the X-chromosomal deletion of a @DISEASE$ patient with borderline @PHENOTYPICFEATURE$.	false
+77388e3f6d970fcc72a8ad28fc066622ae4ba3a1	A deletion that includes the VCXA promoter is associated with borderline @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+86bac3052b6bab6bf67ba832362cb5c045478650	The twins had @DISEASE$, X linked @PHENOTYPICFEATURE$, and epilepsy.	false
+694a230ea5b1de39abda7ee89f470dd30bfc0088	Deletion of VCX-A due to NAHR plays a major role in the occurrence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+804f87b4ee9197f2e00c05081c7eee3a21a459e4	We present the case of a male patient with Kallmann syndrome (KS), @DISEASE$ (XLI) and X-linked @PHENOTYPICFEATURE$ (MRX).	false
+77c662ce39acb9fc55c5e7047e07173686fc00af	Interstitial deletion in Xp22.3 is associated with @DISEASE$, @PHENOTYPICFEATURE$, and epilepsy.	false
+3e758b416f80c26f3531550e1191d9855aaab750	Making the movement @PHENOTYPICFEATURE$ visible caused a relative decrease in the popularity of the @DISEASE$ patients as opposed to an increase in the popularity of the control patients.	false
+1666f2843325636a3685d187e360f9317c79f6fd	In a single patient with @PHENOTYPICFEATURE$, whole-exome sequencing revealed MAN1B1 as @DISEASE$ candidate gene.	false
+546ac59610d98595f45649c3ff0e82a4cfbcea70	At present, @DISEASE$ (CAN) and recipients death (mainly due to circulatory complications, @PHENOTYPICFEATURE$ and infections) are most common reasons of graft loss in the second and subsequent years after transplantation.	false
+714f3485f67fc5a0a5d6cd27d9ab203af57ed1c5	The most common indications for starting SRL therapy were @DISEASE$, Epstein-Barr virus-associated @PHENOTYPICFEATURE$, and thrombotic microangiopathy.	false
+64f92bd7dd5e8ac818df5f9aea7ed655dcec19b0	@DISEASE$ (CAN) is a major cause of progressive @PHENOTYPICFEATURE$ in kidney transplant recipients.	false
+64e95ba5f6cf31f145e5d41d6342d0df1a78f378	Its action of reducing cell proliferation may reduce the risk of @DISEASE$ and posttransplant @PHENOTYPICFEATURE$.	false
+fdd27855a0c637d6e6fb868e51ee6cc8eb3ab4c7	Evolution of glomerular filtration rate, renal injury markers, anemia, and angiotensin blockers use after change from calcineurin inhibitors to sirolimus in transplant patients with @PHENOTYPICFEATURE$ versus @DISEASE$.	false
+a103acaef2aba569d2d87134a1369f3a8a9dcb8e	This review will focus on the expression and localization of MMPs and TIMPs in the kidney, as well as summarizing the current information linking these proteins to acute kidney injury, @PHENOTYPICFEATURE$/tubulointerstitial fibrosis, @DISEASE$, diabetic nephropathy, polycystic kidney disease, and renal cell carcinoma.	false
+ec4bfe90de3582e8110f2825d9827b5a0fe4aa38	@DISEASE$ is a major cause of progressive @PHENOTYPICFEATURE$ in renal transplant recipients.	false
+3bc5643ebad482fd8f695a4e8791576b2b322d6b	In patients with @DISEASE$ complex pathology of @PHENOTYPICFEATURE$ becomes more important factor.	false
+da1217df8cc28ed9ac0e25a24c91d3b594794686	@DISEASE$ is the major cause of progressive @PHENOTYPICFEATURE$ in renal transplant recipients.	false
+e25f5c0f3fd2b24492cb6b83f330d6ce342a6e3a	In addition to the acute complications related to @PHENOTYPICFEATURE$ and the associated economic impact of prolonged hospitalization, the development of delayed graft function is associated with an increased risk of @DISEASE$ and shortened allograft survival.	false
+57783cbc724c15d31e84e4ab650e78496e0df4c0	@PHENOTYPICFEATURE$ and giant cell @DISEASE$: what is the relationship?	false
+b3b2d97efa25b5ddaffbcc0cce5c8f93a3332d88	Urologists involved in the management of children with @DISEASE$ and @PHENOTYPICFEATURE$ should be alert to this renal complication.	false
+2d80993926d1322d87d32b21616dbedb57021e40	This case highlights the importance of clean intermittent catheterization, bladder irrigation, and routine urologic management necessary for patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3906f46e31847a174656fbccfa23fa5d017f3f30	@DISEASE$ represents the most common cause of @PHENOTYPICFEATURE$ dysfunction in children.	false
+9d5fd4c574e0261643f65413a3cb9309b23a690e	Detrusor hyperactivity and its reproducibility was investigated in 22 patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7cea394582bc08161d478317d8077f1fb49b3146	The urinary tract dysfunction was caused by a lower motor neuron @PHENOTYPICFEATURE$, prune belly syndrome and @DISEASE$.	false
+4b852a8a845787fbf48c8b93ca6898073c239a7d	Spina bifida and @DISEASE$ are associated with neurogenic @PHENOTYPICFEATURE$ and bowel function.	false
+58e45dee2dd6577345960a90e40f81816fdff251	Review of 86 patients with @DISEASE$ and @PHENOTYPICFEATURE$ who underwent sigmoidocolocystoplasty and were followed more than 10 years.	false
+bbdc9b09c87b0f8bde31ac8c8c8100e632bd0aa1	We have applied this statistical analysis in a prospective manner to 215 patients with @DISEASE$ and @PHENOTYPICFEATURE$ impairment.	false
+74a5ec3900b624fee005aafa5df6cb9138a70307	Urinary undiversion in patients with @DISEASE$ and @PHENOTYPICFEATURE$ dysfunction.	false
+02fe1137cd37b4ee782dfb43530bdc04b2bf924f	[Electrophysiologic diagnosis of @PHENOTYPICFEATURE$ in children with @DISEASE$].	false
+2a20f0ccd760b9ad5dfb14610e0a64b7acaf5857	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (@DISEASE$, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+ccc8d5a7bcd720834f9cde56283294f163a3440b	@DISEASE$ associated with cleft palate and @PHENOTYPICFEATURE$.	false
+7e0645a1c2230132b05496cb7d805bb40036e0de	In addition to these cardiovascular abnormalities, she had @DISEASE$ (Klippel-Feil syndrome, Duane syndrome and sensorineural hearing disturbance), blepharoptosis and @PHENOTYPICFEATURE$.	false
+a4e30d241f698cab4ce29ba42cf5998069baae26	Severe scoliosis, torticollis and @PHENOTYPICFEATURE$ in a woman with @DISEASE$ (WS).	false
+7ca42d2cbab98e01631d4e357958f8a5f9f34f77	Ruptured aneurysm of the sinus of Valsalva with @DISEASE$ (cervico-oculo-acoustic syndrome), blepharoptosis and @PHENOTYPICFEATURE$: case report.	false
+7091e8545f5660e232944896a0771b0256946965	The @DISEASE$ is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and @PHENOTYPICFEATURE$, and visceral anomalies.	false
+8b02cc1fa7998f7ead81b8345e53b97aa5c3e328	@DISEASE$ (OTCS) is a multiple congenital anomaly syndrome characterized by trigonocephaly, mental retardation, a typical facial appearance, redundant skin, joint and @PHENOTYPICFEATURE$, and visceral anomalies.	false
+7147b4496d3927a7146db74b06c30affc88e70e5	Report of a case with orthostatic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a73efe0629c2032cde78a20d743780e6a453ebfe	The pathogenesis of @DISEASE$ in the nephrotic syndrome and its role in the development of @PHENOTYPICFEATURE$ are discussed.	false
+5d00aec293cd91e6bb7428ad85974ed409e37011	[Transformation of normo-aldosterone edema into @DISEASE$ @PHENOTYPICFEATURE$ in a cirrhotic treated with corticoids].	false
+7be9e68cce05c177b080aaa46987d228dca0d5a0	[Transformation of normo-aldosterone @PHENOTYPICFEATURE$ into @DISEASE$ edema in a cirrhotic treated with corticoids].	false
+44851430e0b6304501a74165a4c7a3a2cd788b81	These animals display physical changes similar to those of patients with @DISEASE$, such as excess fat accumulation, @PHENOTYPICFEATURE$, thin skin, and alopecia.	false
+36d78cea1efe5574da6720c0607a404824196551	They presented later with @PHENOTYPICFEATURE$ and usually had hypochloraemia, hypokalaemia, and metabolic alkalosis associated with @DISEASE$.	false
+3245c8c635912497afdbc966e604bc37bd009e20	[@DISEASE$ with diffuse @PHENOTYPICFEATURE$ at its beginning and hyperaldosteronism].	false
+5bbb03fe0394cca4f5a34bfa85475be78f10bbef	[The @DISEASE$ syndrome in @PHENOTYPICFEATURE$ caused by decompensated respiratory insufficiency and its treatment by spirolactones].	false
+1c8bd43b70aa52a9e955354bbd074a51bf9bde1e	Despite @PHENOTYPICFEATURE$, @DISEASE$ patients have an increased LV mass, reversible upon correction of hypercortisolism.	false
+68682bc819e24710cc7c3068e2f1904b1d70fef2	All patients presented typical signs of @DISEASE$, blood hypertension, and four of them had @PHENOTYPICFEATURE$.	false
+70a4fcf5c888c660e651a10fc70da1d858dd0c12	Discontinuation of diuretics causes the development of @PHENOTYPICFEATURE$, attributable to pathophysiological changes with @DISEASE$.	false
+7f9abecfc260cd114ef45df121d2201c21ff3506	The third affected sibling, followed to 13 years of age, has hepatomegaly, hyperlipidemia, @PHENOTYPICFEATURE$, adrenal calcification, and @DISEASE$.	false
+5c801cc51f2fecfcbe1dd843abbd02c86096ea33	translocation, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b8ce728599c70d5914bd8cfff1e7c5abc250cedd	Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney disease and retinal degeneration, and @DISEASE$ (MKS), a gestational lethal condition with @PHENOTYPICFEATURE$, cystic kidneys and CNS malformation.	false
+9bbb22ab3ba40d49e02700cf86fc386173653159	There were two cases of @PHENOTYPICFEATURE$, five cases each of adenocarcinoma (four secondary and one urachal) and mesenchymal tumors (four malignant and one benign), two cases of amyloid, and one case each of plasmacytomas and @DISEASE$.	false
+2feaf5976767aecd88aefc688a77b4a4c4749677	@DISEASE$: case report and review of @PHENOTYPICFEATURE$ and ichthyosis.	false
+db598e2fdf48e3ba2b3dce3d7a275b62979bf6fa	A mutation in @DISEASE$ causes non-syndromic recessive @PHENOTYPICFEATURE$.	false
+82134b4787fdc78954549ac70a948c5480b4586f	A novel SLC26A4 (@DISEASE$) @PHENOTYPICFEATURE$ mutation retained in the endoplasmic reticulum.	false
+cce3d70434241c2dbdd607694a6be1a9b24e40cb	Splice-site mutation in the @DISEASE$ gene may result in intrafamilial variability for @PHENOTYPICFEATURE$ in Pendred syndrome.	false
+559f5e7faf980c0556efe8e1dbbfb06d7e306f5f	SLC26A4/@DISEASE$ mutations cause Pendred Syndrome and non-syndromic @PHENOTYPICFEATURE$.	false
+618e9856e022167dbe9bfdf8d201c49f975eced6	Pendred syndrome (@DISEASE$) is characterized by profound @PHENOTYPICFEATURE$ in childhood, positive perchlorate challenge, and goiter.	false
+7f697e28aeadb7676c4e0e76c88488bf694b7149	Whilst these findings demonstrate molecular heterogeneity for @DISEASE$ mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with @PHENOTYPICFEATURE$.	false
+d30b5b408c386abcdfbb9ec37d6b2a77ce921941	Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the @DISEASE$ gene in the assessment of families with @PHENOTYPICFEATURE$.	false
+afa2958b11525abc7f4b60b273861ac3049c6711	SLC26A4 (@DISEASE$) mutations are common cause of @PHENOTYPICFEATURE$ in East Asia.	false
+6fc1dda084d75f6a0bd341e053d642b5ee46e645	Numerous mutations in the Pendrin (PDS) gene have been found in families with @DISEASE$ characterized by @PHENOTYPICFEATURE$ and euthyroid goiter.	false
+10bd1d89a08a8a9178eb024b320fb0a4c7caeac9	Numerous mutations in the Pendrin (@DISEASE$) gene have been found in families with PDS characterized by @PHENOTYPICFEATURE$ and euthyroid goiter.	false
+06687be78bcf7d3120e377e7d276a912dacf07e2	The @DISEASE$ gene, Pendred syndrome and non-syndromic @PHENOTYPICFEATURE$ DFNB4.	false
+674b82f44039984c458b73d4c8b8644b5f9ff34b	Pendred syndrome (@DISEASE$) is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ and goiter.	false
+33b5bfff84e99f3887df20bdeb32b17ec65e67ac	Patients with pure @DISEASE$ had diffuse central cerebral hypomyelination with mild pontine and @PHENOTYPICFEATURE$.	false
+fa01f255c1b0e156c3f8fef2e902d984dfbca23b	Congenital muscular dystrophy (@DISEASE$) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, muscle weakness, @PHENOTYPICFEATURE$, and dystrophic changes in the muscles.	false
+d67bb1862b93bcf062ef8749cdea2c337c2d815a	Congenital muscular dystrophy (@DISEASE$) is a clinically and genetically heterogeneous group of muscle disorders, presenting at birth or early infancy with hypotonia, @PHENOTYPICFEATURE$, joint contractures, and dystrophic changes in the muscles.	false
+179aad0dd8e1291873b99f25e483c4a0e4a01c3d	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and @PHENOTYPICFEATURE$.	false
+8be55144f2a169a998379d1ccc3e429429d41a2f	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders present at birth with @PHENOTYPICFEATURE$, hypotonia and contractures.	false
+c4880d01c7d8c7abf0136c8cdda054a1e835f7d7	Severe hypotonia, joint deformities and @PHENOTYPICFEATURE$ at birth are the main features of @DISEASE$.	false
+b2826d65731f4de673e0fe0d928422fd387415bf	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and @PHENOTYPICFEATURE$ present at birth.	false
+76ffdd23ff93610bc149d0e7e5a4d609cfb2f2c0	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders with @PHENOTYPICFEATURE$, hypotonia and contractures present at birth.	false
+71bf8772b58bfbe369ba5a8bb3658d53091946bc	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ caused by heterozygous SOX9 mutations.	false
+040bc2728813d8f96990e7b6a184f57a875a0fa2	The congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of autosomal recessive disorders presenting in infancy with @PHENOTYPICFEATURE$, contractures, and dystrophic changes on skeletal-muscle biopsy.	false
+aa2c386e5daf908790dc8cd400254d7424ef2335	The congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, @PHENOTYPICFEATURE$, and dystrophic changes on skeletal-muscle biopsy.	false
+4127b9bd450f9cc6658d594227eee8a6fb7d3f07	The congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia, muscle weakness and @PHENOTYPICFEATURE$, associated with dystrophic changes on skeletal muscle biopsy.	false
+9b44ad3bae03b36e448f4db5ac101f605a25676b	The congenital muscular dystrophies (@DISEASE$) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia, @PHENOTYPICFEATURE$ and contractures, associated with dystrophic changes on skeletal muscle biopsy.	false
+4788b2cb34a2682b405f4757589cb23a086dafc0	Phenotypic females with @DISEASE$ should be karyotyped once the @PHENOTYPICFEATURE$ is recognized.	false
+7ce0e1d7bf989dd4e5028e26e0940ac168dd2158	@DISEASE$ (CD) is a rare @PHENOTYPICFEATURE$.	false
+b2ec2b14429c593b4765400d220612b973e359c0	Acrodysostosis is a rare syndrome characterized by @PHENOTYPICFEATURE$, @DISEASE$ and mental deficiency.	false
+fdc55ccf129d33c34785073cbedce3794a316050	The paper reports two siblings, 6 and 3 3/4 years old, with a congenital nephropathy (nephronophthisis), retinitis pigmentosa, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5c732c9592e7edce1435e23c1f97ab5144a72334	In conclusion, @DISEASE$ shows @PHENOTYPICFEATURE$, which is strongly linked to hearing loss at low frequencies without any allelic or anatomical predisposing factor.	false
+2159d767ab1bc9604db6f3748bb9c75c67b9d289	@DISEASE$, which has been reported since the 19th century, is a cortical type of @PHENOTYPICFEATURE$.	false
+ed4efa65df3ac7c114ff996910e6f957dd876247	We report the cases of a 6-month-old boy and a 16-month-old girl who, after viral infection, developed multiple infiltrating @PHENOTYPICFEATURE$ on the limbs and face, associated with @DISEASE$.	false
+93cb07886f8315e4e6b74b3ba237c5cee614252e	We want to highlight the importance of suspecting subcutaneous T-cell lymphoma in patients with @DISEASE$ associated with subcutaneous @PHENOTYPICFEATURE$ lesions because this could be life threatening.	false
+6dbede8a28de415ccab140715a5950caddfee48b	In both bullous @DISEASE$ and morphea, it is possible that individual pathological features of the lesion lead to obstruction and congestion of the dermal lymphatics thereby inducing enough dilation and @PHENOTYPICFEATURE$ to form a dermal bulla.	false
+818cca6822ceccccc501535666a925631718fcab	Clinical features of @DISEASE$ are non-specific and can range from being asymptomatic to symptoms of @PHENOTYPICFEATURE$, arrhythmia, and systemic thromboembolism.	false
+36b7e1c514dac95abe985ee60345885e06361390	In patients with @DISEASE$ (IPF), our objectives were to identify predictors of @PHENOTYPICFEATURE$ recovery (HRR) at 1 min after completion of a 6-min walk test (6MWT) [HRR1] and 2 min after completion of a 6MWT (HRR2), and to determine whether abnormal HRR predicts mortality.	false
+9097e9ae2f8c9d102d371716ae75568bb3cc0572	We describe the case of an 81-year-old woman with @DISEASE$ (IPF), who was admitted to our hospital due to aggravation of dyspnea and decreased oxygen saturation, as well as onset of orthopnea and rapidly progressing @PHENOTYPICFEATURE$.	false
+b3d3169bcdc576e962827d7fa70e13867f425c8c	@PHENOTYPICFEATURE$, particularly @DISEASE$, affects multiple families across the world.	false
+ae9ca9da702095e640772ae2ade4f84d4263a8f3	[Analysis and prenatal diagnosis of @PHENOTYPICFEATURE$-related gene mutations in patients with @DISEASE$].	false
+b0a3ce94766d3b68ae619c67ffe78f564c600598	Mutation analysis of common @PHENOTYPICFEATURE$-causing genes among 506 patients with @DISEASE$ from Wenzhou city, China.	false
+975c632342db7782ea10d3e29e3d741c44e406e9	Autosomal recessive @DISEASE$ (ARNSHL) is the most common form of hereditary @PHENOTYPICFEATURE$.	false
+675b56fd689cd82c32c913e3f33dd3a81ca9aac5	Autosomal recessive @DISEASE$ (ARNSHL) is the most common form of severe inherited childhood @PHENOTYPICFEATURE$.	false
+0659cd3fd932379187facd2ca6f5b6118cec1616	To explore the genetic etiology of @PHENOTYPICFEATURE$ in a dominant family with late-onset, progressive, @DISEASE$.	false
+f52aec0ec8aaedc22dacb4be73fb6667ff27d666	@DISEASE$ (NSHL) accounts for 80% of hereditary @PHENOTYPICFEATURE$.	false
+3a611b26402b11ba6eb413d0442d93225f0389a8	@DISEASE$ (NSHL) is the most common type of @PHENOTYPICFEATURE$ in the elderly.	false
+70033d3dd77ec6c20c6886ecc6e4c389c87bbbee	Mutation spectrum and hotspots of the common @PHENOTYPICFEATURE$ genes in 314 patients with @DISEASE$ in Heze area, China.	false
+81809b07d723f85554bc25a3a5e015982b2f28fe	@PHENOTYPICFEATURE$ gene variations in a 1120 @DISEASE$ cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.	false
+2d639ff3f9f6e77fc1aa0c4fbe5391a62319df08	Deafness gene variations in a 1120 @DISEASE$ cohort: molecular epidemiology and @PHENOTYPICFEATURE$ mutation spectrum of patients in Japan.	false
+cfc0ce68b3f1b227ed7497a4cecd46a763168ddc	The Healthy Communities Study (@DISEASE$), conducted between 2010 and 2016, tells a real-world story of how childhood @PHENOTYPICFEATURE$ prevention efforts have unfolded in 130 U.S. communities.	false
+299a6de75f490025da3537da3e363b4bf00cc316	The conceptual framework of the @DISEASE$ is based on the socioecological model and behaviors shown in previous studies to be related to @PHENOTYPICFEATURE$ in children guided selection of domains.	false
+9387dc2b3e69838b39d1517d7e70c33570ca1586	Hajdu-Cheney syndrome (@DISEASE$) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, @PHENOTYPICFEATURE$, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet.	false
+7c27196964aa34793a7f2beeabec46260eb02402	The Healthy Communities Study (@DISEASE$) is seeking to identify characteristics and combinations of programs and policies that are associated with children's diets and @PHENOTYPICFEATURE$-related outcomes in various types of communities across the U.S. The purpose of this paper is to describe the methods used in 2013-2015 in the HCS to assess dietary intake, school nutrition environments, and other nutrition-related behaviors.	false
+bd071797924c4237e99e1d24eea0f5cf7b5b7562	A dietary screener questionnaire (DSQ) was used to assess dietary outcomes among children in the Healthy Communities Study (@DISEASE$), a study of the relationships between programs and policies to prevent child @PHENOTYPICFEATURE$ and child diet, physical activity and weight outcomes.	false
+fd6fb8b3ccdb7fd6812559b5465cee8fa0c32dbc	The Healthy Communities Study (@DISEASE$) is examining how characteristics of community programs and policies targeting childhood obesity are related to childhood diet, physical activity, and @PHENOTYPICFEATURE$ outcomes.	false
+f648caa67ddb6fd82c3ceb30043c3c8f630bee43	The Healthy Communities Study (@DISEASE$) is examining how characteristics of community programs and policies targeting childhood @PHENOTYPICFEATURE$ are related to childhood diet, physical activity, and obesity outcomes.	false
+fd4f3d21dd9e7f4c1427dc5f26b57f3bcf245893	The Healthy Communities Study (@DISEASE$) was a national study of community programs and policies that aimed to address childhood @PHENOTYPICFEATURE$; it necessitated recruitment of a large sample of children from communities throughout the United States.	false
+a287e8126164f8b8f8b89b3c4ec6587a355a67b5	@DISEASE$ (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of @PHENOTYPICFEATURE$, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin.	false
+856ce03243a15079f5fe6eb5e3ffcb6b05007baa	Prenatal and postnatal growth retardation, @PHENOTYPICFEATURE$, developmental delay, and pigmentation abnormalities: @DISEASE$, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?	false
+6862932601af9ebc05e52c6b01154a82d547b94b	@DISEASE$ (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate @PHENOTYPICFEATURE$, palmoplantar keratoderma, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin.	false
+455a0f8947e67e3cf148d70bbb3d1f82bdc2bf40	A mother and her son with @PHENOTYPICFEATURE$ and sensorineural deafness compatible with @DISEASE$ (MIM 103500) are reported.	false
+7cc4c4f38429fa6ab236544df43cc334a8a54299	Localized hypopigmentation can be found in piebaldism, Waardenburg syndrome and @DISEASE$, whereas diffuse forms are typical for oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and Griscelli syndrome.	false
+9bc0c6661a4af88ed692af80c2e8eb2b15b586f4	Control tumors had a greater degree of angiogenesis than alpha-@DISEASE$ @PHENOTYPICFEATURE$, as demonstrated by the greater number of blood-filled vessels.	false
+f055bfa417e825fc0ed61f172170ddfd3e4c7fbf	Control @PHENOTYPICFEATURE$ had a greater degree of angiogenesis than alpha-@DISEASE$ tumors, as demonstrated by the greater number of blood-filled vessels.	false
+dd3f45d86dcc2b42ed4388c9503f78476849ae76	Of the enrolled breast cancer patients, significant differences were also observed among different @PHENOTYPICFEATURE$ stages, with @DISEASE$ and OSI gradually increasing as the disease progressed, while TAS diminished.	false
+202f2cf85e6747ec5f5f9bc0182818cd449b1818	Transoral surgery (@DISEASE$) for patients with early stage oropharyngeal squamous cell carcinoma (SCC) is increasingly used, however, criticized, because of less optimal access to the @PHENOTYPICFEATURE$ than open techniques and thus potentially jeopardizing tumor control in comparison with radiotherapy (RT).	false
+19286e161f335b79e90c12f9826c1fd215556822	Transoral surgery (@DISEASE$) for patients with early stage oropharyngeal squamous cell carcinoma (SCC) is increasingly used, however, criticized, because of less optimal access to the tumor than open techniques and thus potentially jeopardizing @PHENOTYPICFEATURE$ control in comparison with radiotherapy (RT).	false
+89bbfe463006191de11842a9768b47225c3eedb2	[@DISEASE$ and @PHENOTYPICFEATURE$ embolism].	false
+c62ae81100d46991bab90b6a4dd47113c3c410f1	@DISEASE$ (TOS) is caused by heterogeneous factors that compress the brachial plexus and subclavian artery; @PHENOTYPICFEATURE$ is rarely a cause of TOS.	false
+1dd73ea640c591154e966171053c087b07a91b8a	Thoracic outlet syndrome (TOS) is caused by heterogeneous factors that compress the brachial plexus and subclavian artery; @PHENOTYPICFEATURE$ is rarely a cause of @DISEASE$.	false
+8ada137c0866f08aece9b1af3017db3953e723fc	Thoracic outlet syndrome (@DISEASE$) is caused by heterogeneous factors that compress the brachial plexus and subclavian artery; @PHENOTYPICFEATURE$ is rarely a cause of TOS.	false
+2004eb4438eb0619a81ef8b5bac7e809e80d3575	With non-stimulated lymph-node lymphocytes, from stomach cancer patients we selected a hybrid (@DISEASE$/H8) producing IgM with broad reactivity against human @PHENOTYPICFEATURE$ cells.	false
+ac81e7f0c42da043e737628c112d9b3d6f11c0bd	@DISEASE$ caused by @PHENOTYPICFEATURE$ of the first rib.	false
+fd72080ddd6fb9b14d1edb13d75f7cf6157c5190	In the 25 patients with pure @DISEASE$, surgery included 18 amputations and seven resections for the primary @PHENOTYPICFEATURE$.	false
+dce21e8356f0b7db284ca1d34201c4983c2dd751	Glomus tumors (GT) have been classified among @PHENOTYPICFEATURE$ of perivascular smooth muscle differentiation, together with myopericytoma, myofibroma/@DISEASE$, and angioleiomyoma, based on their morphologic overlap.	false
+c0a6df7416fe3eb68c85260944e74e4da860c6f4	A pH-sensitive prodrug strategy to co-deliver DOX and @DISEASE$ in TPGS nanomicelles for @PHENOTYPICFEATURE$ therapy.	false
+4d7ccbe445117db6163df606645d9ad9e608c128	Mutations in the CLRN1 gene cause @DISEASE$ (USH3), a human disease characterized by progressive @PHENOTYPICFEATURE$ and deafness.	false
+da6dbea056721733d726b597438461c9aaa4056e	Should neonatal @PHENOTYPICFEATURE$ associated with @DISEASE$/III be treated pharmacologically?	false
+8472abb5f12c1f7e5d649419c9fe067d8f82504a	Leroy @DISEASE$ is a rare autosomal recessive lysosomal storage disorder characterized by marked psychomotor and growth retardation, @PHENOTYPICFEATURE$, and typical facial features.	false
+18f9d59fe87bed9af37be6f231fdc4306ed752c8	@DISEASE$ presenting as severe neonatal @PHENOTYPICFEATURE$.	false
+6e1251d327d6bac1be14348762c31132a69329fd	@DISEASE$ and III are caused by mutations in the GNPTAB and GNPTG genes, and patients with these diseases are characterized by short stature, @PHENOTYPICFEATURE$, and developmental delay.	false
+5ff440927e2fb7f25b45844f405474bfb38aa3d5	and @DISEASE$ in several @PHENOTYPICFEATURE$.	false
+199f5e5609769b4a4dbda3426b58fddd82f312ae	In EX-OZR, gastrocnemius muscle @DISEASE$ was improved by 19 +/- 4%, whereas skeletal muscle arteriolar @PHENOTYPICFEATURE$ and conduit arterial methacholine-induced NO release were increased.	false
+da47589e489adc6e28734cd05b167225f07da10f	@DISEASE$ correlated with @PHENOTYPICFEATURE$ size.	false
+321f6e63d46454ecc6fb12fe21acf0abea837840	Survival was also significantly lower in patients with MVD-high @PHENOTYPICFEATURE$ than in patients with @DISEASE$-low tumours (p=0.0334).	false
+8b138af6c7db461c8d13657566447b8090c15186	Survival was also significantly lower in patients with @DISEASE$-high tumours than in patients with MVD-low @PHENOTYPICFEATURE$ (p=0.0334).	false
+6a99ab29597753601a0750fae806b0c30a207d78	Survival was also significantly lower in patients with @DISEASE$-high @PHENOTYPICFEATURE$ than in patients with MVD-low tumours (p=0.0334).	false
+04133a1528e9aeba7bec3b77166dd6c461473216	Survival was also significantly lower in patients with MVD-high tumours than in patients with @DISEASE$-low @PHENOTYPICFEATURE$ (p=0.0334).	false
+52ac382099a160e8e6d3ee1dbddfd8bf3f75a1e0	Postoperative @PHENOTYPICFEATURE$ specimens were assessed for @DISEASE$.	false
+7098ec9ee8c4d4fbe569f3916ffc4279f7c6ffb2	MVD for T3 staged (41.2 @DISEASE$, mean) and T4 staged (36.4 MVD, mean) tumors were higher than earlier staged T1 staged (31.3 MVD, mean) and T2 staged (24.9 MVD, mean) @PHENOTYPICFEATURE$.	false
+847463d26861ae9701a92416ea2cba5d58dde12d	MVD for T3 staged (41.2 MVD, mean) and T4 staged (36.4 @DISEASE$, mean) tumors were higher than earlier staged T1 staged (31.3 MVD, mean) and T2 staged (24.9 MVD, mean) @PHENOTYPICFEATURE$.	false
+90a6d6717126d143feffaa4c620ecfa9f880c2c1	MVD for T3 staged (41.2 MVD, mean) and T4 staged (36.4 MVD, mean) tumors were higher than earlier staged T1 staged (31.3 @DISEASE$, mean) and T2 staged (24.9 MVD, mean) @PHENOTYPICFEATURE$.	false
+513f14086cf9a25e278f7d4c8a913b0be1b69673	MVD for T3 staged (41.2 MVD, mean) and T4 staged (36.4 MVD, mean) @PHENOTYPICFEATURE$ were higher than earlier staged T1 staged (31.3 @DISEASE$, mean) and T2 staged (24.9 MVD, mean) tumors.	false
+e977238e712432c4baaddbbf43cd01e207a85a52	MVD for T3 staged (41.2 MVD, mean) and T4 staged (36.4 MVD, mean) @PHENOTYPICFEATURE$ were higher than earlier staged T1 staged (31.3 MVD, mean) and T2 staged (24.9 @DISEASE$, mean) tumors.	false
+ac0a334008f208fd20c54a876e2bda294a14ef52	MVD for T3 staged (41.2 @DISEASE$, mean) and T4 staged (36.4 MVD, mean) @PHENOTYPICFEATURE$ were higher than earlier staged T1 staged (31.3 MVD, mean) and T2 staged (24.9 MVD, mean) tumors.	false
+9a16383044e4006e7106109b76ccfa63eda87b23	MVD for T3 staged (41.2 MVD, mean) and T4 staged (36.4 @DISEASE$, mean) @PHENOTYPICFEATURE$ were higher than earlier staged T1 staged (31.3 MVD, mean) and T2 staged (24.9 MVD, mean) tumors.	false
+35e2386277842e232133a8c0e5d3fa99bcfd30a8	MVD for T3 staged (41.2 MVD, mean) and T4 staged (36.4 MVD, mean) tumors were higher than earlier staged T1 staged (31.3 MVD, mean) and T2 staged (24.9 @DISEASE$, mean) @PHENOTYPICFEATURE$.	false
+d6e3c198f23b3cb1672628f6e74ab3d3333274a1	@PHENOTYPICFEATURE$ index scores, tissue pathology scores, and synovium microvessel density (@DISEASE$) analysis were performed.	false
+485bae166c2062d583dbea08edd98ac589e662b5	The @PHENOTYPICFEATURE$ size, microcirculation in tumors, intratumoral microvessel density (@DISEASE$), afferent MVD, and CD34-positive MVD were evaluated.	false
+a2f3c8e1b7ac0cddd6b0e8380c5a8fe75046ae65	The tumor size, microcirculation in @PHENOTYPICFEATURE$, intratumoral microvessel density (MVD), afferent MVD, and CD34-positive @DISEASE$ were evaluated.	false
+0f6076c49ba460bf4454e0a80ee75bb3b29a13c6	The tumor size, microcirculation in @PHENOTYPICFEATURE$, intratumoral microvessel density (MVD), afferent @DISEASE$, and CD34-positive MVD were evaluated.	false
+3ddf6068447979e84ef93136473e5f392bc8558d	The @PHENOTYPICFEATURE$ size, microcirculation in tumors, intratumoral microvessel density (MVD), afferent @DISEASE$, and CD34-positive MVD were evaluated.	false
+4bd24a6b60e723e01bb6a3b518de0754b77ea1b3	The tumor size, microcirculation in @PHENOTYPICFEATURE$, intratumoral microvessel density (@DISEASE$), afferent MVD, and CD34-positive MVD were evaluated.	false
+cac8ad0f415780531804a71c0021528503e3c05e	The @PHENOTYPICFEATURE$ size, microcirculation in tumors, intratumoral microvessel density (MVD), afferent MVD, and CD34-positive @DISEASE$ were evaluated.	false
+ccdf014695781816e80c8b27fb06918f3b455a29	The @DISEASE$ of the @PHENOTYPICFEATURE$ was calculated.	false
+f2671a77a2c2439280bca7d336512edff0668d23	Secondly, immunohistochemical analysis of microvascular density (MVD) of the @PHENOTYPICFEATURE$ showed a significantly higher @DISEASE$ for BN-175 tumour compared to CC531 and ROS-1.	false
+4b405629a2b54cf066f9fba66f138ce985936959	Secondly, immunohistochemical analysis of microvascular density (@DISEASE$) of the tumour showed a significantly higher MVD for BN-175 @PHENOTYPICFEATURE$ compared to CC531 and ROS-1.	false
+12734667d3b9b4d1bb789dc488ba315bf8fdc244	Secondly, immunohistochemical analysis of microvascular density (MVD) of the tumour showed a significantly higher @DISEASE$ for BN-175 @PHENOTYPICFEATURE$ compared to CC531 and ROS-1.	false
+26231f9982898e8a188f172b7164069121ac3d6e	Secondly, immunohistochemical analysis of microvascular density (@DISEASE$) of the @PHENOTYPICFEATURE$ showed a significantly higher MVD for BN-175 tumour compared to CC531 and ROS-1.	false
+5de8cb37332573f491e77b5f09b892c1262fd2d1	This report describes a 1.5 years-old male child with clinical signs of velo-cardio-facial syndrome (VCFS) presented with heart defect, @DISEASE$, developmental delay, acrocephaly, @PHENOTYPICFEATURE$, MRI abnormalities and descriptive facial feature, such as hypertelorism.	false
+508961b9b7905f4c5693f27bafe129bdad1369fa	The first patient, a male, was born at term by Cesarean section and manifests micrognathia, @DISEASE$, hypoplastic right ear, anotia on the left side, cerebellar vermis hypoplasia, hydrocephalus, @PHENOTYPICFEATURE$, and hypoplastic left heart.	false
+94dff768c1eccc1587c8e84270d44921af99fc29	This patient shares features with 12 previously reported cases including hypertelorism, @DISEASE$, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, @PHENOTYPICFEATURE$, and growth retardation.	false
+f6d2a1de2a6da02ec14435f37ced1e7b81adec05	Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, @DISEASE$, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and @PHENOTYPICFEATURE$.	false
+f1dd06769a2598958d335a3b0caf92d9cdeecc66	Abnormal findings included @PHENOTYPICFEATURE$, a ventricular septal defect (VSD), postaxial polydactyly of fingers, @DISEASE$, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation.	false
+7518c5e64912f038678be2d4cc9eee9fa53a59e7	These amplifiable polymorphisms provided predictions of heterozygosity for Fabry disease and should be useful for diagnostic linkage analyses in @DISEASE$ @PHENOTYPICFEATURE$ and ankyloglossia, Pelizaeus-Merzbacher disease, and X-linked agammaglobulinemia as well as sequence-tagged sites for gene mapping.	false
+f71b013e14eef0e7db85ca2c1f7048cf149bd394	Inherited diffuse esophageal leiomyomatosis a benign @PHENOTYPICFEATURE$ involving smooth muscle cells of the whole esophagus, is frequently associated with @DISEASE$, a hereditary disease of type IV collagen.	false
+5387d8313c70c73d1e3751884937acc51147380e	IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+09c6839c355bfd6617316240bc1fcf036afeaecb	All patients had muscular dystrophy or @PHENOTYPICFEATURE$, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+f1766e26add4f0db63612679dbec7793aac4a895	He was suspected as IMAGE (Intrauterine growth restriction, Metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$) syndrome.	false
+58c97ddfd07be8fb134b1eaa101ade6c55ef49d8	IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+6ea93e0752e878d8a11688a1b4c6808af432f5bc	Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4cd346b2ae8d1a1032dcf09ad4efc4aed809ce0f	Though variable, this disorder mainly consists of Intrauterine growth retardation, Metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ce79b97053b57c9d97af05e49f9dc955c791676e	IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, @DISEASE$ and @PHENOTYPICFEATURE$) is an undergrowth developmental disorder with life-threatening consequences.	false
+74c259168232bb1fe4ac5815de213cb7c6ac4499	IMAGe is a mnemonic acronym that stands for Intrauterine growth retardation, Metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$ (OMIM 300290).	false
+119005291bb54992adc97a0ab5336cad30ad1818	Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, @DISEASE$, and @PHENOTYPICFEATURE$ (IMAGe syndrome; OMIM 300290) has been described.	false
+2f211caaf69bd71ae17d393a93fbed5bd7f0c791	IMAGe is a newly reported syndrome characterized by the association of intra-uterine growth retardation, metaphyseal dysplasia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6f90f9fb060527eb2e15fd2a1b8e2c4489c36811	On account of a recently developed @PHENOTYPICFEATURE$, a young woman with the characteristic features of Klein-@DISEASE$ (impairment of hearing, partial albinism, telecanthus) was hospitalised.	false
+33f62a14c2a71d3cf10e42fa0a690838f279a259	However, @PHENOTYPICFEATURE$ as causes of conductive hearing loss are not typically seen in @DISEASE$.	false
+186c269d5502b06b92e516251e77341b08d2d2eb	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, @DISEASE$, folic acid antagonists, diabetes mellitus, and @PHENOTYPICFEATURE$.	false
+9536a6d92bd6e2eff6d5c6f3a0db959b97c608e9	We report on a 28-year-old man with a 2-year history of @DISEASE$ (VKH), who developed one-and-a-half syndrome, facial @PHENOTYPICFEATURE$, facial nerve palsy, hearing loss and limb ataxia on the right side.	false
+eda43089e83013d238a9e71a496756c55e1b1e03	If hypocomplementemic urticarial vasculitis syndrome is a classical cause, the majority of patients have an underlying systemic disease like @PHENOTYPICFEATURE$, Sj?gren's syndrome, mixed cryoglobulinemia, @DISEASE$ or cancer.	false
+3db8026341156f07953c3ed066cb7a6ab752ea0d	Included were cases of Schnitzler syndrome, @DISEASE$, @PHENOTYPICFEATURE$, Sj?gren syndrome, cryopyrin-associated periodic syndrome, primary biliary cirrhosis, inflammatory bowel disease, and those that had signs of systemic inflammation not otherwise specified, that is, fever, arthritis, leukocytosis, and elevated erythrocyte sedimentation rate.	false
+2a820fd759792e4cac9fd3a05b6a0c2e26cf06df	@DISEASE$ is an ectodermal dysplasia (ED) described once previously in two families who exhibited atrophic malar patches, sparse hair, conical teeth, dystrophic nails and @PHENOTYPICFEATURE$.	false
+3ea1626e5173a7818019ed69ca90bf1cbd7f7e46	@DISEASE$ (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, @PHENOTYPICFEATURE$, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.	false
+bc4cb3b95844ae3c5d9678bf65e0d5604fe3e79c	@DISEASE$ (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, @PHENOTYPICFEATURE$, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.	false
+5141a6cbd105af5ae26eeaa74debcecc56e2bdda	The association of @PHENOTYPICFEATURE$ with @DISEASE$ has been reported in the context of microvascular occlusions and/or malignant hypertension.	false
+783b3efc85ac6923c32e9d342efcbdbd794ca809	@DISEASE$ mimicking a malignant pancreatic @PHENOTYPICFEATURE$--a case report.	false
+67af3a026d0782f527bc65a7a8f8caf3ca56ae0d	The @DISEASE$ (CAPS, Asherson's syndrome) develops rapidly following an identifiable triggering factor (eg infection, trauma, inadequate coagulation @PHENOTYPICFEATURE$, obstetric) in antiphospholipid antibody positive patients.	false
+63d88fd6945fe5bf65d00f63b2f71fa392d969a8	@DISEASE$ in cancer patients: an Interaction of clotting, autoimmunity and @PHENOTYPICFEATURE$ growth?	false
+f366972a69a78e2f0f12325078f4c3a0cccbf1b5	Several trigger factors have been related with the @DISEASE$, including infections, anticoagulation withdrawal, surgery, @PHENOTYPICFEATURE$ and lupus "flares".	false
+7afa758139b20f9436e09772b9dd57c6146f3846	Liver involvement, the characteristic skin gangrene, pneumonia and worsening severe @PHENOTYPICFEATURE$ were determinant to make the final diagnosis of @DISEASE$ that led the patient to death.	false
+465bf1c294b4e5df51e6b6e1876563c07a2d47e9	Some patients with @DISEASE$ exhibit neurologic features including learning disability, cerebellar ataxia, and @PHENOTYPICFEATURE$ and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1).	false
+2316136ba631e914969e471d6c962774c89ad76a	Some individuals with @DISEASE$ have a broader phenotypic spectrum with neurological features, including ataxia and @PHENOTYPICFEATURE$.	false
+f3d9dcd52ee16934acb258ffce0751c40f06310b	At admission and discharge from hospital (on average, after 28 days), the following measures were compared between the group of patients with FM and the other patients: body weight, body mass index, functional independence (@DISEASE$), @PHENOTYPICFEATURE$-related disability (TSD-OC), self-reported functioning and the Timed-Up-Go (TUG) test.	false
+04a022679d73bba04d4c419a12411f8deae28b28	The purpose of this study was to determine (1) whether TENS would lead to ankle @PHENOTYPICFEATURE$ reduction and (2) whether sit-to-stand training combined with @DISEASE$ would improve spasticity, muscle strength and balance ability in stroke patients.	false
+6ff01cf49cd61c71bebb7a67219e812ee334cb37	The purpose of this study was to determine (1) whether TENS would lead to ankle spasticity reduction and (2) whether sit-to-stand training combined with @DISEASE$ would improve @PHENOTYPICFEATURE$, muscle strength and balance ability in stroke patients.	false
+e66a8b32fd5051df5604ba796f378af3271012d4	@DISEASE$ and @PHENOTYPICFEATURE$ after confusion between Lamictal and Lamisil.	false
+fa5106d0d364144c086236909e17a50f8011a34b	We present herein two cases: a 38 year-old female patient who underwent Chopart amputation after a gunshot wound and developed a plantar flexion deformity that prevented proper use of the prosthesis; and a 39 year-old male with sequela of @DISEASE$, with severe @PHENOTYPICFEATURE$ preventing proper use of the extremity and footwear.	false
+7eff3f930ac67c825dfb56474284a39f92f7b6e0	Lusoria @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and Riedel's thyroiditis.	false
+49f05d786cc43326341a7c8bb5cd4325ce683f2d	Three of the patients were also diagnosed with @DISEASE$, 3 had sialoadenitis, 2 had chronic thyroiditis, 1 had interstitial nephritis, and 1 had interstitial @PHENOTYPICFEATURE$.	false
+0518b35dca719d08b7bf12930bbdd135e2aa7897	They have also been used for diagnosis of acute tubulointerstitial nephritis, evaluation and management of @DISEASE$, identifying infection within kidney and liver cysts, and distinguishing complex @PHENOTYPICFEATURE$ from kidney cancer in patients with underlying CKD.	false
+5f338a71901fabf86d7bb3925477fa104d48167c	Abnormalities found in 18 cases included dilatation of the excretory system, urinary calculi, congenital anomaly, acquired small kidney, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+84ba0bb5112e2201eb0c8de80ea5e1bea0ffb932	Patients with celiac disease may present with a myriad of symptoms such as diarrhea, @PHENOTYPICFEATURE$, weight loss, iron deficiency anemia, @DISEASE$, among others.	false
+df1c019e22b00548b07e444e5a044a3e7407a709	Coeliac disease can be suspected in children suffering from mild gastrointestinal symptoms, such as @PHENOTYPICFEATURE$, and in those with signs of nutritional deficiencies, as well as in children of first-degree relatives of already diagnosed coeliacs, patients with IgA-deficiency, patients suffering from dental enamel hypoplasia or @DISEASE$, and patients with some other disease known to be associated with coeliac disease, such as diabetes mellitus.	false
+c2eb3ae6713ce412f8979b987ea7f18171601f67	These serologic markers have been detected, in recent advances, new clinical presentations for coeliac disease: not only typical gastrointestinal symptoms (diarrhea, recurrent @PHENOTYPICFEATURE$, etc), but many atypical symptoms have been described: sideropenic anemia, short stature, growth retardation, @DISEASE$, small alterations, alopecia, etc.	false
+289dd60c4a97696a1079c54cfd10973585eb5773	It manifests in all age groups, either classically with @PHENOTYPICFEATURE$, diarrhoea and growth failure or weight loss, more commonly with indirect consequences of malabsorption, such as anaemia and osteoporosis, or with associated autoimmune diseases like type?1 diabetes, autoimmune thyroiditis or @DISEASE$.	false
+cd70fe10361ccd5ea1aaca922fa813f029fd64d2	Simultaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d98431105c3e3898973dc7fe8fee85e4f2e10b93	Overall, CD was associated with a 1.62-fold increased risk of HZ (95% CI=1.35-1.95), and was seen also when we considered comorbidity with lymphoproliferative disease, @PHENOTYPICFEATURE$, type 1 diabetes, thyroid disease, rheumatoid disease and excluded individuals with a record of @DISEASE$.	false
+4a90f5cf2c6d1cb48413fde91582c493a53d0a01	In the Netherlands dapsone is used for the treatment of @DISEASE$, leprosy and Pneumocystis jiroveci @PHENOTYPICFEATURE$ and prophylaxis in case of cotrimoxazole allergy.	false
+7a3873f37d1bd30a1982005f8c3f21ffe5c82544	Presenting symptoms were tiredness, 78%; borborygmus, 72%; @PHENOTYPICFEATURE$, 64%; diarrhoea, 56%; weight loss, 44%; vomiting, 16%; constipation, 12%; bone pain, 12%; and @DISEASE$, 10%.	false
+4f8cd22980ffeaca73f750846e3ad561b7f3665f	Here we show that inactivation of the Nbn gene (also known as Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of NBS, ataxia telangiectasia and @DISEASE$, including @PHENOTYPICFEATURE$, growth retardation, cerebellar defects and ataxia.	false
+e262536be561b9bcbf8130d7da35096c864692da	Additionally, mutations in the MRE11A gene are known to lead to an @DISEASE$ (ATLD), a late-onset, slowly progressive variant of ataxia-telangiectasia without @PHENOTYPICFEATURE$.	false
+857cabb30011e8528ab6b4fa7dd1d0604bb4bcc3	Additionally, mutations in the MRE11A gene are known to lead to an ataxia-telangiectasia-like disorder (@DISEASE$), a late-onset, slowly progressive variant of ataxia-telangiectasia without @PHENOTYPICFEATURE$.	false
+0643b8c30cc8f7ffb02e5041e0884247b839fae1	Neuropathology is a hallmark of these diseases, whereby neurodegeneration occurs in A-T and @DISEASE$ while @PHENOTYPICFEATURE$ characterizes NBS.	false
+d015cb28e4828b7b60cccb86ee2326bdb71b3cf2	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia-like disorder (@DISEASE$) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+8f52a2cea718ee1739c7961a7ead275aa4fc570b	Nijmegen breakage syndrome (NBS), ataxia telangiectasia and @DISEASE$ (ATLD) show overlapping phenotypes such as growth retardation, @PHENOTYPICFEATURE$, cerebellar developmental defects and ataxia.	false
+6895e904f467f77fe9de4b1ab69de95e331110b0	Iminopeptiduria, skin ulcerations, and @PHENOTYPICFEATURE$ in a boy with @DISEASE$.	false
+4a1dc6ea83a171dfb060341d4d2d9ab21d79202e	This tenth case of @DISEASE$ underlines the character of the disease: recurrent ulcers (7/10), erysipelatoid plaques (3/10), ecchymosis (4/10), telangiectatic scars (7/10), @PHENOTYPICFEATURE$ (1/10), early canitias (1/10).	false
+55fed0ccad373ae686502bcbf3dd55f9dce0d543	Characteristic large-sized osteoclasts were uniquely found in patients treated with nitrogen-containing bisphosphonates, thus being clearly distinguishable from giant-osteoclasts in other bone disorders such as @DISEASE$, secondary hyperparathyroidism or @PHENOTYPICFEATURE$.	false
+465f5f7e301e79127721091f75a05ec94bd22b91	The administration of calcitonin for 4-17 wk resulted in an amelioration of the clinical phenomena associated with @DISEASE$, including bone pain, increased skeletal vascularity, @PHENOTYPICFEATURE$, and neurologic deficits secondary to skeletal impingement.	false
+067be38dc182375d92f390570c193e3f3371bad0	It has been found to regulate selective autophagy, cell survival, cell death, oxidative stress, DNA repair and inflammation, and to play a role in a number of diseases, such as tumourigenesis, @DISEASE$, neurodegenerative disease, diabetes, and @PHENOTYPICFEATURE$.	false
+e048a9f8411072117acc917cfe7854d40a820e52	Orofacial dyskinesia (@DISEASE$) is a disorder characterized by @PHENOTYPICFEATURE$ of the oral and facial muscles.	false
+8453b933a2ff61f93edd2234b4071fd28b873245	Mohr syndrome [orofaciodigital (@DISEASE$) syndrome type II] is an autosomal recessive condition that presents with @PHENOTYPICFEATURE$, broad or a bifid nasal tip, orofacial clefts, hypertrophied oral frenulae, tongue nodules or lobulated tongue, and digital anomalies.	false
+4fc26223d3c21464ed539559406efa2d001bdd85	These findings included @PHENOTYPICFEATURE$ in 28 cases, pathological demyelinisation in two, @DISEASE$ in one, toxoplasmosis in 11, lymphomas in seven, infarction in one and one subdural haematoma.	false
+2dfd4727e8c351fda7fc05a5a36763d08b8e8436	We report a case of human immunodeficiency virus (HIV) infection that showed subacute @PHENOTYPICFEATURE$ without HIV encephalopathy or other encephalopathies, including @DISEASE$ or encephalitis of other human herpes virus (HHV) infections.	false
+9bba4bdbd11cac05637dc34da9529f7f5ebe0ed7	The case is reported of a patient with central nervous system @PHENOTYPICFEATURE$ (SLE) with features of progressive multifocal leucoencephalopathy (@DISEASE$) seen clinically and by magnetic resonance imaging.	false
+6a448080e9415017c345b2b03f1d9b6ace7716c0	A 34-year-old man who used intravenous drugs developed the acquired immunodeficiency syndrome with lymphadenopathy, Mycobacterium tuberculosis @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b633354951a6b569f1e96c5c701002f52636e037	Three patients were assigned an ICD-9-CM discharge diagnosis code for Pneumocystis joroveci @PHENOTYPICFEATURE$, 1 patient was assigned an ICD-9-CM discharge diagnosis code for hepatitis B, and 1 patient was assigned an ICD-9-CM discharge diagnosis code for @DISEASE$.	false
+0048be1fab0e29d6af531bae748578a656e37428	The neuropathological lesions of SBT recipients included: (a) vascular lesions: global brain ischemia, infarcts, intracranial hemorrhage and edema (7 children/2 adults; 69%); (b) @PHENOTYPICFEATURE$ (6 children; 46%); (c) Alzheimer type II gliosis (5 children/4 adults; 69%); (d) infection (3 patients; 23%) due to cytomegalovirus (1 child), Aspergillus fumigatus (1 adult) and progressive multifocal leukoencephalopathy (@DISEASE$)-like (1 adult); (e) Epstein-Barr virus-related cerebral post-transplant lymphoproliferative disorder (2 children; 15%); and (f) central pontine and extrapontine myelinolysis (1 child; 7.5%).	false
+2c6d554561c985a8bb78dfd6d02ccc64baa5f8d5	The neuropathological lesions of SBT recipients included: (a) vascular lesions: global brain ischemia, infarcts, intracranial hemorrhage and edema (7 children/2 adults; 69%); (b) @PHENOTYPICFEATURE$ (6 children; 46%); (c) Alzheimer type II gliosis (5 children/4 adults; 69%); (d) infection (3 patients; 23%) due to cytomegalovirus (1 child), Aspergillus fumigatus (1 adult) and @DISEASE$ (PML)-like (1 adult); (e) Epstein-Barr virus-related cerebral post-transplant lymphoproliferative disorder (2 children; 15%); and (f) central pontine and extrapontine myelinolysis (1 child; 7.5%).	false
+8e1762abdf72621c77a599c0339f4b8cd04a4ef8	However, reactivation of these viruses in immunocompromised hosts is associated with renal @PHENOTYPICFEATURE$ and hemorrhagic cystitis (HC) caused by BKV and with @DISEASE$ (PML) caused by JCV.	false
+e51066ca29a3c42c9070bdbac8528c1ec6bfe95f	However, reactivation of these viruses in immunocompromised hosts is associated with renal @PHENOTYPICFEATURE$ and hemorrhagic cystitis (HC) caused by BKV and with progressive multifocal leukoencephalopathy (@DISEASE$) caused by JCV.	false
+ba177597c10ee7b1fedbe4f4a93f4e05268a34cc	BKVPy reactivation is mainly related to a renal @PHENOTYPICFEATURE$ and JCV reactivation can induce the @DISEASE$.	false
+54e8802540a8a8e3800a56912d164a57c765e43d	Additional rare reported complications include @PHENOTYPICFEATURE$-like syndromes, congestive heart failure and demyelinating syndromes (including cases resembling @DISEASE$). Ongoing post-marketing surveillance of these and other serious adverse events is necessary to determine the true incidence rates, and whether a reassessment of the overall risk-benefit of tumor necrosis factor-alpha antagonists will be required.	false
+3e4326d0f70a1a66745c8caa471ef556751f51a3	A 10-year-old African American girl with @DISEASE$ developed headaches and @PHENOTYPICFEATURE$ associated with hypertension during hospitalization for a pulmonary abscess.	false
+75a30a52b34e8f97f682be6cb45771c4bb724ecc	For all of the 4 conditions, hospital charges were significantly greater in pediatric hospitals than in adult or mixed hospitals (P<.001 for cystic fibrosis, complex congenital heart disease, and @DISEASE$, and P<.01 for @PHENOTYPICFEATURE$).	false
+77c48c374815d8031a1f6e9476f709716df50cb8	Hypertension and a @PHENOTYPICFEATURE$ following transfusion in an adult with @DISEASE$.	false
+37b0dae713a486842ddf92abe2b08453ad9b8467	Thirty-day hospital readmission rates varied significantly across CCDs: 20.2% (cystic fibrosis), 19.8% (inflammatory bowel disease), 20.4% (@PHENOTYPICFEATURE$), 22.5% (type 1 diabetes), and 34.6% (@DISEASE$).	false
+cc2e3979a0c7c4c2ba9d6e2d47218de04562783f	@DISEASE$, @PHENOTYPICFEATURE$, diabetes, and asthma are common in young women, and the emergency physician needs to know the ways in which pregnancy alters presentation and management of these illnesses.	false
+42f5fb5cf3e7245dc35fb203b034f8233c8dc837	@DISEASE$: ischemia and @PHENOTYPICFEATURE$.	false
+9aba85201a8778bdd94856f55550512553e3a741	Meperidine-induced @PHENOTYPICFEATURE$ in a patient without renal dysfunction or @DISEASE$.	false
+2138ee168d338c4ec1991741aa80efd7a2817f38	Social @PHENOTYPICFEATURE$ and psychiatric morbidity in @DISEASE$ and diabetes patients.	false
+949f092cbcead9f8d75eaf6791a87401a25f5ad7	A 14-year-old girl with @DISEASE$ and nephrotic syndrome developed bone pain, followed by pulmonary edema, @PHENOTYPICFEATURE$, coma, and bilateral flaccid paralysis.	false
+5483564833a99f578b4e271391e2f5cac1197333	We report a case of dural venous sinus thrombosis (DVST) in a patient who developed @PHENOTYPICFEATURE$ following exchange transfusion for treatment of acute chest syndrome associated with @DISEASE$.	false
+0c6e291a75c1d0ae4b53b126868ec875f7cd9359	In this report, we describe a novel presentation of this syndrome with @PHENOTYPICFEATURE$ hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of @DISEASE$.	false
+b7f640df7f0a436f3a3db2bb19a4a197cdadeeeb	The clinical diagnosis was based on the observation of several complications related to @DISEASE$: recurrent eye redness, tearing and burning pain, photophobia, bilateral pseudodendritic @PHENOTYPICFEATURE$, an erythematous and painful focal palmo-plantar hyperkeratosis and a mild delay of mental development.	false
+348f664faf69cee7616863c58b20854677d875f4	The literature seems to indicate that lesions with similar histologic features may be solitary, multiple, or combined with other @PHENOTYPICFEATURE$; in other cases, the lesions may possibly represent an unusual morphologic expression of @DISEASE$.	false
+d3e21caeb92744167e28002f8a272f4e3c661710	Surprisingly, there is one @DISEASE$ mutation that causes @PHENOTYPICFEATURE$ without affecting renal function, indicating that kidney function tolerates a reduction of anion channel activity that is not sufficient to support normal signal transduction in inner hair cells.	false
+4f1bcce2ba9cdb4cd41c8cf9f7c4e95ce3c82323	@PHENOTYPICFEATURE$ at diagnosis was constant in patients with @DISEASE$ mutations; transient neonatal hyperkalaemia was present in two-thirds of the children with KCNJ1 mutations.	false
+19adcc1c929173b863547b88e6dec1bbee9fc1fb	Mutation G47R in the @DISEASE$ gene causes Bartter syndrome with @PHENOTYPICFEATURE$ in two Spanish families.	false
+f895f7f17f51785e033c36a2f516ddd50142fd61	@PHENOTYPICFEATURE$ is highly prevalent in ASD, but has not been rigorously examined in @DISEASE$ models.	false
+1b4167d45c858c74a352ce0e420d72ef25c11eb5	@PHENOTYPICFEATURE$ is highly prevalent in @DISEASE$, but has not been rigorously examined in ASD models.	false
+d4cf7e04c0e13c340bb981760b973078deb57398	@DISEASE$ children with @PHENOTYPICFEATURE$ had lower performance in daily living skills, social cognition, social communication and intellectual development than ASD children without sleep disturbances.	false
+4f71be501db43fcbc4733c7f20b6f6fd53e5e818	ASD children with @PHENOTYPICFEATURE$ had lower performance in daily living skills, social cognition, social communication and intellectual development than @DISEASE$ children without sleep disturbances.	false
+49bc71b8aca8e26d96f56b860b341d3f47b777de	ASD children with sleep disturbances had lower performance in daily living skills, social cognition, social communication and intellectual development than @DISEASE$ children without @PHENOTYPICFEATURE$.	false
+679bab312e0620c34bc4e501aa4d808fbfcc6ac5	@DISEASE$ children with sleep disturbances had lower performance in daily living skills, social cognition, social communication and intellectual development than ASD children without @PHENOTYPICFEATURE$.	false
+00b8ee1f3644134dcda5cf65170e7b5132d8bc40	Children with idiopathic @DISEASE$ are significantly more likely to have non-febrile seizures than their unaffected siblings, suggesting that non-@PHENOTYPICFEATURE$ may be ASD-specific.	false
+2a143106718de4678b1c51ad155c8ede03f4031a	Children with idiopathic @DISEASE$ are significantly more likely to have non-@PHENOTYPICFEATURE$ than their unaffected siblings, suggesting that non-febrile seizures may be ASD-specific.	false
+7469bb7b13970ebfa75fba32cd2332e3df68fc10	PJF is a serious complication of surgery for adult @PHENOTYPICFEATURE$ (@DISEASE$).	false
+8f78f2a4a2b7e0f37866db3606c5e18a6960df85	OBJECTIVE The goal of this study was to compare inpatient morbidity and mortality after adult @PHENOTYPICFEATURE$ (@DISEASE$) surgery in teaching versus nonteaching hospitals in the US.	false
+2e77ec851855f3d4bfe839ca758ca89f38321b08	Although recent studies suggest that average clinical outcomes are improved following surgery for selected adult @PHENOTYPICFEATURE$ (@DISEASE$) patients, these outcomes span a broad range.	false
+4d0a1ae1975dae4923672ba866ce229fc573e4be	@PHENOTYPICFEATURE$ (ADHD) has been frequently reported as co-occurring with autism spectrum disorder (@DISEASE$).	false
+2cc3f8665def00f60cad75657fb33dcc6fdff503	Adult @PHENOTYPICFEATURE$ (@DISEASE$) is one of the most challenging spinal disorders associated with broad range of clinical and radiological presentation.	false
+4f5f6fa6da29d5a7366eaa0c745dfc6db42b90c2	Further studies are needed to determine modifiable risk factors for non-@PHENOTYPICFEATURE$ in @DISEASE$.	false
+495566b9a55043d2949cab214ee363322ea7560e	Fifty age- and sex-matched patients with adult @PHENOTYPICFEATURE$ were included as controls (@DISEASE$ group).	false
+4b7471471f96ed3a51a357c7d1016bc571841d3b	@DISEASE$ (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin ?-binding protein 2, leading to progressive spinal @PHENOTYPICFEATURE$.	false
+41bc98821022f176451020d14b5d5524ee93013d	A 44-year-old Japanese man with a 14-year history of @DISEASE$ (SSc) was admitted with a fever, hypertension, @PHENOTYPICFEATURE$, thrombocytopenia, and renal dysfunction.	false
+3c176211395c29035ecdee7d3b49af07fe38a033	@PHENOTYPICFEATURE$ syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-@DISEASE$.	false
+44aa141df2b9110a8d8df82c7ad5d5d9da46b403	Using targeted exome sequencing of 226 known genes implicated in inherited @PHENOTYPICFEATURE$, we identified compound heterozygous mutations in the DYNC2H1 gene in the fetus with @DISEASE$ (SRPS III), c.1151 C>T(p.Ala384Val) and c.4351 C>T (p.Gln1451*), which were inherited from paternally and maternally, respectively.	false
+2fb2b9fe38424df6fe23d512dee4c508edd48501	Those rare malformations are typically observed in patients with the @DISEASE$, a lethal, short rib-polydactyly @PHENOTYPICFEATURE$ with orofacial findings almost identical to those of the Mohr syndrome.	false
+6b10e87b4a1c29c29f456cd0e31d3214ba594f4d	Central nervous system anomalies in @DISEASE$ (PS) due to mutations in the FGFR2 gene are poorly understood, even though PS is often associated with serious @PHENOTYPICFEATURE$.	false
+b1926eda93ba40da7b8845efb1eab3ceac7e3e52	The effects of hemorrhage and length/location of @PHENOTYPICFEATURE$ on changes in the value of the motor scale of the functional independence measure (@DISEASE$) were assessed on admission to and discharge from rehabilitation.	false
+281dc59df0dea2f6ad6dae5f95de993a1898c510	The 22q13.3 deletion syndrome, also known as @DISEASE$, is a rare genetic disorder characterized by @PHENOTYPICFEATURE$ impaired development of speech and language, autistic-like behaviour, and minor dysmorphic features.	false
+240522f1f22b33c8956cecbaa012ac7a18e81dcd	causes an intragenic SHANK3 deletion in a woman with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+db63d53df02303100b8524d1c1427f3982a061b2	The Motivation Assessment Scale (@DISEASE$) is a 16-item questionnaire that addresses the situational determinants of self-injurious behavior in persons with @PHENOTYPICFEATURE$ and other developmental disorders.	false
+b01255530c792bd30743a26dde8f0aba25f5ac1b	@DISEASE$ (MAS) disrupts perinatal decreases in pulmonary vascular resistance (PVR) and is the commonest cause of neonatal pulmonary @PHENOTYPICFEATURE$.	false
+960c823dad253262db412a5b620df193be0e9853	Meconium aspiration syndrome (@DISEASE$) disrupts perinatal decreases in pulmonary vascular resistance (PVR) and is the commonest cause of neonatal pulmonary @PHENOTYPICFEATURE$.	false
+3c3d71ed18c322a60f57ade4e3bb7961ec94ada2	In adjusted analyses, there was a small increase in autism risk associated with MSAF exposure (adjusted relative risk (aRR) 1.18, 95% confidence interval (CI) 1.12 to 1.25), and a marginal association that failed to achieve significance between @DISEASE$ and @PHENOTYPICFEATURE$ (aRR 1.08, 95% CI 0.98 to 1.20).	false
+d3e964485ad1c9a26cb5288b018841ed08aa2d86	The aim of our study is to clarify the perinatal predictive factors of meconium aspiration syndrome (@DISEASE$) with @PHENOTYPICFEATURE$ (ND) in infants.	false
+4d1db5784824d78205478e7639cd8e60c5f85a2d	Children exposed to meconium (MSAF and @DISEASE$) were more likely to be diagnosed with @PHENOTYPICFEATURE$ in comparison with unexposed children (0.60% and 0.52%, vs 0.47%, respectively).	false
+da135907284cb97b44ab3825035937f876a32679	Construct validity of the Motivation Assessment Scale (@DISEASE$) (Durand, Crimmins, The Motivation Assessment Scale 1988) was studied using Rasch analysis data from 67 children (246 MASs), with dual diagnosis of @PHENOTYPICFEATURE$ and intellectual disability or with intellectual disability only.	false
+23188c43aa1e0d10ce4134e02529451055301362	These findings suggest that infants with the diagnosis of @DISEASE$ manifest later @PHENOTYPICFEATURE$, even if they respond well to conventional treatment.	false
+f7b5b27f69ec1d63133e88ce5676590ff0cb1809	This report describes a case of a 19-year-old Macedonian woman presenting with @DISEASE$ and renal @PHENOTYPICFEATURE$ who was successfully treated with aorto-aortic bypass, including reconstruction of both renal and the hepatic and superior mesenteric arteries, and reviews the current literature.	false
+b67108dd4c332a74d16bc4e43e4e387caf0f703f	Sera from 229 subjects were tested, including 35 patients with primary APS, 51 patients with APS associated to other diseases, 30 patients with non-@DISEASE$ thrombosis, 32 patients with non-APS pregnancy-related morbidity, 42 patients with @PHENOTYPICFEATURE$, and 39 healthy controls (HC).	false
+ea5e1e86007bb360d228edf40921bc72f9e58215	Sera from 229 subjects were tested, including 35 patients with primary @DISEASE$, 51 patients with APS associated to other diseases, 30 patients with non-APS thrombosis, 32 patients with non-APS pregnancy-related morbidity, 42 patients with @PHENOTYPICFEATURE$, and 39 healthy controls (HC).	false
+c25c7989e941df951bb839c67b3f552b63bea387	Sera from 229 subjects were tested, including 35 patients with primary APS, 51 patients with @DISEASE$ associated to other diseases, 30 patients with non-APS thrombosis, 32 patients with non-APS pregnancy-related morbidity, 42 patients with @PHENOTYPICFEATURE$, and 39 healthy controls (HC).	false
+8e9fd2bb269a3cd500d0598c02be01f89862e469	Patient-reported dysphonia and @PHENOTYPICFEATURE$ symptoms were present in one fourth of patients with PD, ET, dystonia, and almost two thirds in @DISEASE$.	false
+c70dc793e245277dba37763d29b8112e81320b36	We enrolled 36 patients with APS, 13 with primary APS and 23 with the form associated with @PHENOTYPICFEATURE$ (SLE, secondary @DISEASE$).	false
+c08b1e5bd24e9ff87f9c68840748589c3a02d78c	We enrolled 36 patients with APS, 13 with primary @DISEASE$ and 23 with the form associated with @PHENOTYPICFEATURE$ (SLE, secondary APS).	false
+28e3558b9b29abc4d27f0cf878a0ec601485e3e8	We enrolled 36 patients with @DISEASE$, 13 with primary APS and 23 with the form associated with @PHENOTYPICFEATURE$ (SLE, secondary APS).	false
+91031e260b83e63d6b9b73395da8c3bf92235bdb	We describe the case of a 42-year-old male with @DISEASE$ presenting with vomiting and @PHENOTYPICFEATURE$.	false
+7126cb02b8f2e202b35c3fdebc05269141012cd2	We describe the case of a 42-year-old male with @DISEASE$ presenting with @PHENOTYPICFEATURE$ and abdominal pain.	false
+4baf7991ac3d0262a2c2c3771a3585aee7986acf	@PHENOTYPICFEATURE$ is a rare lesion involved in @DISEASE$, affecting mainly renal or intracranial arteries.	false
+8f3c9669782b6147e5965f17e3c5eb4a2dcfc13b	These two types of patients frequently develop an autoimmune disease (multiple sclerosis, @PHENOTYPICFEATURE$, @DISEASE$).	false
+88f0f0973b98c75b99b31c4061c9b5b6f80fd76a	In the absence of associated @PHENOTYPICFEATURE$, i.e. in primary @DISEASE$, the prevention of recurrent miscarriages is frequently achieved by a combination of heparin plus aspirin.	false
+3ff74bbcfd991765e821fcdb453c2309085e5e3f	APS in the presence of an underlying disease, usually @PHENOTYPICFEATURE$, is called secondary @DISEASE$.	false
+53ccaed55a7ccea8720c73a2dbced7fc34ff9f0e	53.1% of the patients had primary @DISEASE$, 36.2% had APS associated with @PHENOTYPICFEATURE$ and 10.7% APS associated with other diseases.	false
+b6b23d1b4617f4039a64cec6f49a7941d89aae9a	53.1% of the patients had primary APS, 36.2% had APS associated with @PHENOTYPICFEATURE$ and 10.7% @DISEASE$ associated with other diseases.	false
+f15151c451c9163afc402226056b390349c2f177	53.1% of the patients had primary APS, 36.2% had @DISEASE$ associated with @PHENOTYPICFEATURE$ and 10.7% APS associated with other diseases.	false
+a63a182b075d6a242c317991041938eb01b30173	Patient 1: A 34-year-old woman with SLE and @DISEASE$ characterized by active glomerulonephritis, stroke, and several hospital-acquired infections presented with @PHENOTYPICFEATURE$ and diffuse abdominal pain.	false
+b88a8cd6f07b67b2083b96e2640e612d36a502ba	Patient 1: A 34-year-old woman with SLE and @DISEASE$ characterized by active glomerulonephritis, stroke, and several hospital-acquired infections presented with vomiting and diffuse @PHENOTYPICFEATURE$.	false
+fd1b8733e3a488ace662811d6ebda2f1af36e413	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, @DISEASE$ and Wilson's disease.	false
+a3f424582014e54eeba13490b7691229b02fb6a3	[@DISEASE$ and @PHENOTYPICFEATURE$: is there a connection at the molecular genetics level?].	false
+f3eb8c76d8c26999f3b8db74bebd14a762069e89	@DISEASE$ was found in a 7-month-old boy who presented with attacks of vomiting, anorexia, @PHENOTYPICFEATURE$, weakness, and hypotonia.	false
+4c22a7618e135618667489daf1d0f4e7461985d5	Anhidrotic ectodermal dysplasia (@DISEASE$) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, @PHENOTYPICFEATURE$ or hypohidrosis, and oligodontia.	false
+316145734a9c86f2dd7e128623cf5d0550a5805c	Anhidrotic ectodermal dysplasia (@DISEASE$) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by @PHENOTYPICFEATURE$, anhidrosis or hypohidrosis, and oligodontia.	false
+88ed0831311f4a182af8b5d4b544218f61313326	Anhidrotic ectodermal dysplasia (@DISEASE$) is an inherited syndrome with an incidence of one per 100,000 live births and is characterized by hypotrichosis, anhidrosis or @PHENOTYPICFEATURE$, and oligodontia.	false
+f47d5a6611d016af9f1fa0cfdbccb22ca9346710	We demonstrate how a single ectopic beat arising from an @DISEASE$ in the distal PS can give rise to reentrant @PHENOTYPICFEATURE$; in contrast, EADs in the proximal PS were unable to initiate reentry.	false
+0410f37c6bbf0326ce175c030bd029cf51bc2a7e	These protective actions of lidocaine, mexiletine, and RSD1235 may result, at least in part, from their ability to inhibit late I(Na) during action potential repolarization, and inhibition of the inward currents contributing to @DISEASE$ and @PHENOTYPICFEATURE$ formation.	false
+971233ec57fa1adbd69566c80841d5a59decba32	The studies demonstrate (1) tachycardia-pause initiation of rapid, short-coupled PV firing in AF patients and (2) tachycardia-pause facilitation of isometric force, @DISEASE$ formation, and autonomic-dependent triggered firing within canine PVs, suggestive of a common @PHENOTYPICFEATURE$ mechanism.	false
+f82b59addc1fa3746946758f1284511a7b12aed4	Pacing suppresses the drug-induced EAD and @PHENOTYPICFEATURE$, however the effect of pacing on mechanically induced @DISEASE$ and arrhythmia is not clear.	false
+20097d2346251df999668a90a62f2a6a92d3ddf9	Pacing suppresses the drug-induced @DISEASE$ and @PHENOTYPICFEATURE$, however the effect of pacing on mechanically induced EAD and arrhythmia is not clear.	false
+1451b91650acc4f1cef91f9a98d74946d0509c8a	Continuous stimulation at 50 Hz for 8-16 hours at 400 microA or more resulted in neural damage characterized by endoneurial @PHENOTYPICFEATURE$ beginning within 48 hours after stimulation, and early axonal degeneration (@DISEASE$) of the large myelinated fibers, beginning by 1 week after stimulation.	false
+6c5ac9f20765b87738528a53e5ad7f2b46f66806	Cerebral venous thrombosis is a treatable and under-recognised cause of a @DISEASE$ syndrome, and may also cause focal signs, @PHENOTYPICFEATURE$, and depression of consciousness.	false
+a227974fd27a2ef0309b0bd519d875c03e3f7192	@DISEASE$ syndrome was the most common manifestation, while hemiplegia, @PHENOTYPICFEATURE$ and unconsciousness may occur alone or in association.	false
+79840ccec4bf6ddf0903664dad3681fe66c86422	Eight patients had @PHENOTYPICFEATURE$, seven had strokes, four had neurological infections, two developed a @DISEASE$ syndrome, two neuropathies, one myopathy and one conus medullaris infarction.	false
+30d55643e6ba17a7ae59799e754d76514b874658	@DISEASE$ (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, hypertrichosis, and characteristic dysmorphic features.	false
+33fc9c7ff42e42c82d624329217aba882985fd7b	We describe a new case of @DISEASE$ born at 37 weeks' gestation of unrelated parents and presented with intra-uterine @PHENOTYPICFEATURE$, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features.	false
+30d55643e6ba17a7ae59799e754d76514b874658	@DISEASE$ (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe @PHENOTYPICFEATURE$, hypertrichosis, and characteristic dysmorphic features.	false
+44bf634fec71ca2cda7eea54df534b392ed3f370	A novel mutation of the insulin receptor gene in a preterm infant with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d63193337de609374168f5ce00eb05112c951d0f	We report the case of a patient with @DISEASE$ who died of @PHENOTYPICFEATURE$ due to obstructive hypertrophic cardiomyopathy.	false
+1d7975ef8d8b1968883494c3e94f348d195ad342	Less severe forms of GH insensitivity, however, may exist, resulting in @PHENOTYPICFEATURE$ but in few other features of @DISEASE$.	false
+6109b27135dc4b87d862f90f89fc485f2cf98f76	@DISEASE$ (LS) is an autosomal recessive disease characterized by marked @PHENOTYPICFEATURE$ and very low serum IGF-1 and IGFBP-3 levels.	false
+b11a655a84350caac32a6cdeb6d363286e0ace19	Analysis of GHR gene have shown so far about 30 different kinds of mainly homozygous mutations in patients with @DISEASE$ and heterozygous mutations in some patients with idiopathic @PHENOTYPICFEATURE$.	false
+81b985d094e3a2fa54d0da33ad1c7c4d349baaa0	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$ due to an abnormality of growth hormone receptor (GHR).	false
+9e1d073ab58bd5fdc6cd0c364e4b985508427a30	Patients present with @PHENOTYPICFEATURE$ associated with high GH and low IGF-I levels and may have midfacial hypoplasia (typical @DISEASE$ facial features).	false
+4a4171b8abc5843689b2f4b6b5afe2cc55ade0ba	Recent data have indicated that partial @DISEASE$ could be involved in children with apparently idiopathic @PHENOTYPICFEATURE$.	false
+4de567b07a4bdca3c4c153bb2cfbd6a54a2593e5	The heterogeneity ranges from the most severe form, known as @DISEASE$, to less severe phenotypes like idiopathic @PHENOTYPICFEATURE$ and partial GH insensitivity.	false
+00922ee634a8302ea979575133376b65c47778c2	Clinically, all three presented with the typical craniofacies of @DISEASE$, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, @PHENOTYPICFEATURE$, and central obesity.	false
+addee7e6b3aa88125a04efe9cc52360c34c76400	@DISEASE$, an autosomal recessive condition of extreme @PHENOTYPICFEATURE$, is caused by the absence or dysfunction of the growth hormone receptor.	false
+95339e60f35a11c47bd25cd86e6c2370979ae7dd	elsewhere) and in the homozygous state causes @DISEASE$ involving @PHENOTYPICFEATURE$.	false
+1cc86e7fbd48bb18c3111b941d0c1776f9491fa9	@DISEASE$: a @PHENOTYPICFEATURE$ or not a tumour.	false
+72d01eb8a81c343725563497ba6a2a1b908b9d1a	@DISEASE$: a tumour or not a @PHENOTYPICFEATURE$.	false
+77d09409243d6fbefcd47fda344b74bbbf3a3da8	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a dysplastic gangliocytoma of the cerebellum (@DISEASE$).	false
+ed0d55e9f89cf79c43b449a55bcf5fd9e7daa7d9	Two unrelated patients with macrocephaly, seizures, and mild @PHENOTYPICFEATURE$ had a @DISEASE$ (Lhermitte-Duclos disease).	false
+cff781ff33692f79c2337f285a7b7333ab216478	@DISEASE$ or dysplastic gangliocytoma of the cerebellum is an extremely rare @PHENOTYPICFEATURE$.	false
+c6cc233f2e5b6a95afb48153f3f02c8556b1b439	Lhermitte-Duclos disease or @DISEASE$ is an extremely rare @PHENOTYPICFEATURE$.	false
+17a6133aa2d1e4ebbc60d6db93449ecdaebf465d	@DISEASE$, also known as dysplastic cerebellar gangliocytoma, is a rare cerebellar benign @PHENOTYPICFEATURE$ with characteristic appearance of thickened cerebellar folia giving a laminated or striated appearance, quite diagnostic of the condition.	false
+09b7cddf316e4a646b798a831069c1f3981af8a8	Lhermitte-Duclos disease, also known as @DISEASE$, is a rare cerebellar benign @PHENOTYPICFEATURE$ with characteristic appearance of thickened cerebellar folia giving a laminated or striated appearance, quite diagnostic of the condition.	false
+4ffd3e6c9de7b55797c7a98a0d001affd28bbdcd	The @PHENOTYPICFEATURE$ was subsequently removed and microscopic study showed @DISEASE$.	false
+2be42986eab0879902f92e215b513d433e517ca0	MRI showed a @PHENOTYPICFEATURE$ of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (@DISEASE$).	false
+ba4eb963613bf9c50305427a020a3794b08f3933	MRI showed a @PHENOTYPICFEATURE$ of the right cerebellar hemisphere with a striated, tigroid pattern, typical of @DISEASE$ (LDD).	false
+91a74f63fc4c42c2a51559ea7366e7f8d7e29c5e	Partial @PHENOTYPICFEATURE$ removal established the diagnosis of @DISEASE$.	false
+6659418a5a9ba17b185f3a324291ca9a27cca98d	They include: gangliocytoma, ganglioneuroma, @DISEASE$ and dysembryoplastic neuroepithelial @PHENOTYPICFEATURE$.	false
+dc543d797def4f166154dd0689001c4b07bd72dd	@DISEASE$ (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or @PHENOTYPICFEATURE$?	false
+729cc54ba1f3b061d1b8f561c70af669c3603468	Lhermitte-Duclos disease (@DISEASE$): a malformation, hamartoma or @PHENOTYPICFEATURE$?	false
+95040a9512f27626f5831a269059e52de3275918	Although @DISEASE$ (LDD) or dysplastic gangliocytoma of the cerebellum, a slowly progressive unilateral @PHENOTYPICFEATURE$, is a major criterion of CS, its frequency in patients with CS is unknown.	false
+e35ddff46cc106bb972fd46b952666b897c5c763	Although Lhermitte-Duclos disease (@DISEASE$) or dysplastic gangliocytoma of the cerebellum, a slowly progressive unilateral @PHENOTYPICFEATURE$, is a major criterion of CS, its frequency in patients with CS is unknown.	false
+64de5bbe82e9e6bef144f52443daf4633759dd45	Although Lhermitte-Duclos disease (LDD) or @DISEASE$, a slowly progressive unilateral @PHENOTYPICFEATURE$, is a major criterion of CS, its frequency in patients with CS is unknown.	false
+df9b3439cda92fa4a8868ccfe3889210d11fca1a	Inactivation of mTOR and raptor in pancreatic progenitors suggested that alterations in some of the components of this pathway during development could be a cause of @DISEASE$/hypoplasia and @PHENOTYPICFEATURE$.	false
+f32ccb860b3c916c1949486ed6cf93afc31f81df	The consequent overexpression of Igf2 results in most of the symptoms of @DISEASE$, including prenatal overgrowth, polyhydramnios, fetal and neonatal lethality, disproportionate organ overgrowth including tongue enlargement, and @PHENOTYPICFEATURE$.	false
+db98fbeec6a37cc0bbed29511ba5745e94563c7c	A 5-month-old girl with clinical features of Beckwith-Wiedemann syndrome (@DISEASE$), including a repaired omphalocele, an earlobe crease, enlarged adrenal glands, renal size discrepancy, and @PHENOTYPICFEATURE$ hyperglycemia, presented with a 1.9-cm liver nodule.	false
+e838321dfd56152038165bf7552059b04afa4e6f	A 5-month-old girl with clinical features of @DISEASE$ (BWS), including a repaired omphalocele, an earlobe crease, enlarged adrenal glands, renal size discrepancy, and @PHENOTYPICFEATURE$ hyperglycemia, presented with a 1.9-cm liver nodule.	false
+f8aa290003f59d461a1372dac505b8a67e064478	By contrast, autistic spectrum conditions, including Kanner @PHENOTYPICFEATURE$, Asperger syndrome, Rett syndrome, Turner syndrome, Angelman syndrome, and @DISEASE$, commonly engender increased relative effects from paternally expressed imprinted genes, or reduced effects from genes favouring maternal interests.	false
+075fd2b8f3cfb2177d706ff7e03470b486465be3	Among the conditions associated with MSK are @DISEASE$/hemihyperplasia (13%), horseshoe kidney, congenital small kidney, @PHENOTYPICFEATURE$, Caroli syndrome, congenital hepatic fibrosis, Ehlers-Danlos syndrome, Marfan syndrome, immotile cilia syndrome, and arterial fibromuscular dysplasia.	false
+ebc377a511ab4a560c1ee60c43aa6e99dbe34737	@DISEASE$ associated with @PHENOTYPICFEATURE$, physical inactivity and ESA hyporesponsiveness in men undergoing haemodialysis.	false
+9c867822c9afe1a60b18281e560175cf67639388	A syndrome including thumb malformations, @PHENOTYPICFEATURE$, short stature, and @DISEASE$.	false
+0c81674f5e55466cbcbba665f60a4c7a496e7055	He showed multiple minor anomalies including characteristic @PHENOTYPICFEATURE$, alpha-thalassemia, severe mental retardation, and @DISEASE$.	false
+16f3e912ed0d08964ed53183283abd89fdfe6bab	Multiple associations have been described including dysfunction of other cranial nerves, @PHENOTYPICFEATURE$ and hypogonadotrophic @DISEASE$ causing delayed puberty.	false
+a7007bc5185ed95324a564d6dc7eb64b4c9fba7c	The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+f42b6b25d46ec45f1dcebcd42c466c00d0df4538	The H syndrome is a recently reported autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints.	false
+3f42f35e87c71a00b2f930259744589ffc78fd9f	We report a case where trichothiodystrophy was associated with @PHENOTYPICFEATURE$, teeth and eyes, growth and mental retardation, neurological syndrome and @DISEASE$.	false
+33929411bc977ef8f4a26f108d7380b62e9f029a	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, @PHENOTYPICFEATURE$, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+4131b06b5f1d66fc489a0b76b620e99089da34b4	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, @DISEASE$, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.(1,2)	false
+7f0704d919c24de5150afb29e010af346e60d26e	Key findings include infantile hypotonia, a poor suck, @PHENOTYPICFEATURE$ and @DISEASE$/hypogenitalism.	false
+977a68e11d7d4ad910687211d11a84799b22c1ab	He did not have @PHENOTYPICFEATURE$ or @DISEASE$.	false
+faaaf695710dde449301c8f680d2a7245020588a	The Prader-Willi syndrome consists of infantile hypotonia, @PHENOTYPICFEATURE$, @DISEASE$ and developmental delay.	false
+8f1f023ede9abd7b8bfbea4d05ddaa5e6801f278	@PHENOTYPICFEATURE$ and external ophthalmoplegia have hitherto not been reported in @DISEASE$.	false
+d5cdf07f47ea5fc10f299678e5f1b046f36689aa	Despite the fact that renal biopsy was not performed in all children, the combination of an acute nonoliguric renal failure without @PHENOTYPICFEATURE$ and signs of tubular dysfunction together with particular benign course, suggested acute idiopathic @DISEASE$.	false
+52798b41fb05c3d933483a61b6c81c938d5b4d85	Menkes' steely-hair disease is characterized by abnormal @DISEASE$ metabolism accompanying progressive @PHENOTYPICFEATURE$.	false
+6279b0e47c0db246c859ea217ae4596a50ae5c0a	@DISEASE$ deficiency manifests itself as clinical disease, namely enzootic @PHENOTYPICFEATURE$ and osteochondrosis.	false
+2c7ba6834e83d8000d940696082d50cc1d74343e	Enzootic @PHENOTYPICFEATURE$ from @DISEASE$ deficiency in sheep in Colorado.	false
+d656f274cc31b7891aa9ffb4ba0e7e7246473afc	Congenital cataract, @PHENOTYPICFEATURE$, developmental delay and sensorineural hearing loss associated with a defect in @DISEASE$ metabolism.	false
+554a11a0eaf0108692c2fb4eb5e978eee0837124	@DISEASE$ deficiency in ruminants is known to cause an @PHENOTYPICFEATURE$ myelopathy.	false
+d15a1a2e6a4ebd6cc465c623dc658d6fea8a9d68	Delays in diagnosis and treatment of @DISEASE$ deficiency can leave patients with residual neurological @PHENOTYPICFEATURE$.	false
+947612b5f7a6d7a0e22ab7c9f2f72f9252ce4216	Neurological manifestations due to @DISEASE$ deficiency include @PHENOTYPICFEATURE$ myeloneuropathy that resembles subacute combined degeneration due to B12 deficiency.	false
+6a09989279e1aa67a9c2207ec2dd89e1995a987f	@DISEASE$ deficiency: a rare cause of @PHENOTYPICFEATURE$ following gastric bypass surgery.	false
+dab90eef009b85d08c0569851c861498a3ff7ba3	@PHENOTYPICFEATURE$ and myelopathy secondary to acquired @DISEASE$ deficiency are rare complications of major gastric resection.	false
+71cddd2b94ccd05da31afd91dff9d4f37b8b8e55	@DISEASE$ deficiency may produce an @PHENOTYPICFEATURE$ myelopathy.	false
+eaad03ee7d94a420b89a01d4ab397706f2aa10ba	The molecular pathways underlying @DISEASE$ and heterotaxy are being discovered at a rapid pace, and there is increasing recognition of the overlap between these two categories of laterality disorders and their relationship to isolated @PHENOTYPICFEATURE$.	false
+65106440b56c7d4a8ac12a92b701c3dba0950e0c	Paraneoplastic cerebellar degeneration (@DISEASE$) is a paraneoplastic syndrome which destroys Purkinje cells of the cerebellum and causes trunk and limb ataxia, dysarthria, diplopia, and @PHENOTYPICFEATURE$, which often precede the diagnosis of cancer.	false
+38ab9211aa5bf2521d45668e33fff16bc684c29d	Resection is the treatment of choice for this type of tumor and adjuvant medical therapy is prepared for the @PHENOTYPICFEATURE$ remnants and the associated @DISEASE$.	false
+d3adaadb78ca053bfb507747e0d7e82a5b39a09b	Resection is the treatment of choice for this type of @PHENOTYPICFEATURE$ and adjuvant medical therapy is prepared for the tumor remnants and the associated @DISEASE$.	false
+af28e820125731348b3daeb5ea05d5105ea89662	Association of this type of @PHENOTYPICFEATURE$ with @DISEASE$ has only been reported in 3 cases in the past.	false
+940941402308e8900afdb7c39b5158f0983e3682	The main treatment is the @PHENOTYPICFEATURE$ surgical removal, including wide margins, plus supporting therapy when @DISEASE$ is linked.	false
+e037a238856853fa735a8560337c36625a6326ca	Surgical indications were specific symptoms, @PHENOTYPICFEATURE$ enlargement, @DISEASE$, and uncertain diagnosis.	false
+06daf3875c897ad0826b258f37dcd06da0a81bb7	Infantile hemangioendothelioma of the thymus with massive pleural effusion and @DISEASE$: histopathological, flow cytometrical analysis of the @PHENOTYPICFEATURE$.	false
+75529e55078e6301d6cdf467c294c1a92b41aa2b	@DISEASE$ is characterized by the occurrence of disseminated intravascular coagulation (DIC) usually caused by benign angiomatous @PHENOTYPICFEATURE$.	false
+b34ab0d5a33fb6545d39ba4d5d03ed50affc6d47	The association of an angiomatous @PHENOTYPICFEATURE$ will thrombocytopenia represents the @DISEASE$.	false
+2e6e033f0248b036c19555df24128cb838277fb4	@DISEASE$ with partial resection of tumor, reduction of @PHENOTYPICFEATURE$ blood, and vincristine chemotherapy.	false
+e4b6b4d700da409267bb964cad8c9132684cd9fe	@DISEASE$ with partial resection of @PHENOTYPICFEATURE$, reduction of tumor blood, and vincristine chemotherapy.	false
+97d50ed9e6d55f4235c1b32e68a6257986125d72	Both are clearly the @PHENOTYPICFEATURE$ able to create platelet trapping, thrombocytopenia and the life-threatening @DISEASE$.	false
+9cd1a18e4adc656cdd9a57601bc593387657e4b0	@DISEASE$: case reports of successful treatment with partial @PHENOTYPICFEATURE$ resection and vincristine chemotherapy.	false
+38dd8942c456790769cca0000e5e991db851d228	Pulmonary histopathology was categorized as: diffuse alveolar damage; @PHENOTYPICFEATURE$; alveolar hemorrhage; and @DISEASE$.	false
+73be202f975c843fa8fb9dd03ef2df8de568a7f9	Timely administration of arginine hemoglobin, calcium gluconate and sodium chloride may more efficiently improve the clinical status in @DISEASE$ patients diagnosed with PRES who experience @PHENOTYPICFEATURE$.	false
+3847896c0f00c9a72f5a518d190180c7a37adedd	The damage of myocardium in @DISEASE$ is a relatively acute process involving disturbances of microcirculation, interstitial @PHENOTYPICFEATURE$ and dystrophic-degenerative changes of cardiomyocytes (CMC).	false
+b49c561c2a073ba6c4bffc111b032e6a09bc2445	The finding suggests that @DISEASE$ was more effective for reduction of hand @PHENOTYPICFEATURE$ than limb elevation alone for this sample of eight CVA patients.	false
+f76b99e094543b605758fb939bdb2b0a184a1e8c	@DISEASE$ in communicating hydrocephaly and @PHENOTYPICFEATURE$.	false
+2ad5def7c1c6e901ce1032307b009a38c286c482	We report the occurrence of unilateral cerebral hemisphere @PHENOTYPICFEATURE$ with subsequent cortical laminar necrosis in the setting of @DISEASE$ (FHM) and permanent neurologic sequelae after resolution of an attack in 1 patient.	false
+95ee2ff7ff5dd21cb2473626c65b5c63974c10f5	We report the occurrence of unilateral cerebral hemisphere @PHENOTYPICFEATURE$ with subsequent cortical laminar necrosis in the setting of familial hemiplegic migraine (@DISEASE$) and permanent neurologic sequelae after resolution of an attack in 1 patient.	false
+451dabcda4ad72a2269984e29169304cc41e17f8	Opening of the blood-brain barrier preceding cortical @PHENOTYPICFEATURE$ in a severe attack of @DISEASE$ type II.	false
+3d4d085ffe237e01c621fed9f188465f88634878	We report a case of @DISEASE$ with prolonged aura where multimodality imaging showed hemispheric cytotoxic @PHENOTYPICFEATURE$ along with evidence of hypometabolism in the affected hemisphere while there was no evidence of hypoperfusion of the affected hemisphere demonstrating that neuronal depression is a more plausible explanation in its pathogenesis.	false
+41f9a036d57426868ac6c7c59abc2dce24288a04	Eighteen liver biopsies and 14 liver explants from pediatric patients with extrahepatic @PHENOTYPICFEATURE$ (EHBA), Alagille syndrome (AGS), primary sclerosing cholangitis (PSC), inborn @DISEASE$ of bile acid synthesis, and progressive familial intrahepatic cholestasis (PFIC) were examined along with 5 histologically normal control liver biopsies.	false
+8e14249a26d89adcd62cc2c159f478fc5a9bdc39	Younger children with VCFS demonstrated greater @PHENOTYPICFEATURE$ than older children with VCFS or the children without VCFS, such as smaller consonant inventories, greater number of developmental @DISEASE$, greater severity of articulation disorder, and higher frequency of glottal stop use.	false
+dc8c5941ac3ca0dcd9f266b609e2c43b2ae744ce	Hydrogen could significantly reduce HALI by reducing @PHENOTYPICFEATURE$ and apoptosis, inhibiting the elevating of @DISEASE$ and increased SIRT1 expression.	false
+6d3125fbab65fcc88a530ffb1fb9c4ec1fb3639d	In children, the major causes were @PHENOTYPICFEATURE$ (40%) and inborn @DISEASE$ in metabolism (27%).	false
+0a24934bc205b9ebee668a132f38cd6e631708a5	The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn @DISEASE$ of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and @PHENOTYPICFEATURE$ variants.	false
+cd4fcf78fd8ce0989c7fd915f3cadbc11807c166	@PHENOTYPICFEATURE$ (CAH) is an autosomal recessive disorder associated with inborn @DISEASE$ of steroid metabolism.	false
+9559c8f7b5531c56656d5e851041e4cf56968438	The nasal @PHENOTYPICFEATURE$ is a rare non-neoplastic malformation or inborn @DISEASE$ of tissue development, characterized by a mix of several tissue types.	false
+d9f9b806160ef760fc68733c3b588a80a604bbe1	To determine the efficacy of rifampicin as a treatment for refractory pruritus, the medical records of 33 children (median age 25 months, range 4-135; 19 boys) with chronic cholestasis liver disease (21 with Alagille's syndrome, eight with progressive intrahepatic cholestasis, one with extrahepatic @PHENOTYPICFEATURE$, one with an inborn @DISEASE$ of bile acid metabolism, and one with cryptogenic cirrhosis) were reviewed retrospectively.	false
+31f47cd2469e0ab93ad3cd4c31c4e1a8dab5f4e2	Other abnormalities that were not statistically significant with regard to study group were also found in the two groups: infrapatellar fat pad @PHENOTYPICFEATURE$, @DISEASE$, and ganglion cysts.	false
+34a25fb561903eb7debbc5a95da8cca969098a0d	syndrome (@DISEASE$q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely @PHENOTYPICFEATURE$, and minor dysmorphic features.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	false
+618c2c530a02a337fe2dfd01a5811020237aca0a	[@PHENOTYPICFEATURE$ in @DISEASE$].	false
+9238e73a9433e3950a48a4abd0703c3f347b25dc	Associated factors and psychotherapy on @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c5bedfc989ed2bf71a83d09d5f8f4c857558ff10	Objective and subjective @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+9951a0df19a56d35459459defd745124c9de39b2	Neuropsychiatric @DISEASE$, which often entails cognitive disturbances and @PHENOTYPICFEATURE$, has become a major complication for lupus patients.	false
+0da92bce8ed6040660a0e281f6111d281d966dd0	A 45-year-old woman with a 4-year history of @DISEASE$ (SLE) developed fever, decreased visual acuity and @PHENOTYPICFEATURE$.	false
+75be49c404420134b018160a164b8bee6a81f8af	Pattern of @PHENOTYPICFEATURE$ in @DISEASE$: a cluster analysis.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+e4b63b52785179ef2baa6b97472474f9248e9e49	@DISEASE$: looking beyond the @PHENOTYPICFEATURE$.	false
+08eaf8f1d73d41d106b696ac3eb6b258e5c7e4c6	Trial watch: NeuroSearch's dopaminergic stabilizer improves @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c94fcd346f623a49e87eea7a81b4323dd0c07416	This suggests that these subjects already have @DISEASE$, despite a total @PHENOTYPICFEATURE$ and psychiatric signs.	false
+5a3c99a7012d7e763e47f310d6a92ad4481ddbf7	@DISEASE$ (HD) is a progressive, neurodegenerative @PHENOTYPICFEATURE$.	false
+00e02ee3fd4d80afa899cdd7ceba24e3a2f86baf	@DISEASE$ is a @PHENOTYPICFEATURE$ originated from malfunctioning of Basal Ganglia (BG).	false
+74a4b49484b30023be4c7c2c41811b304f6cab9f	The hyperkinetic @PHENOTYPICFEATURE$ may be treated as in @DISEASE$.	false
+3caca0ae80b053eb6a8b6353a3e4ad2fc8de7bed	Differential diagnoses include @DISEASE$ and other causes of progressive hyperkinetic @PHENOTYPICFEATURE$.	false
+3431445eff305d3194eb965f65bcd5cd9586a0f3	None of the subjects exhibited clinical @PHENOTYPICFEATURE$ characteristic of @DISEASE$.	false
+0fe609cf306187e6211d67ece11201b1987c176a	These ND are comprised by a heterogeneous group of syndromes and diseases that encompass different cognitive phenotypes and behavioral disorders, such as autism, Asperger's syndrome, @PHENOTYPICFEATURE$, attention deficit hyperactivity disorder, @DISEASE$, Leigh Syndrome and bipolar disorder.	false
+928b9994bef8d00700972e229c3346c5aba4bb8f	These ND are comprised by a heterogeneous group of syndromes and diseases that encompass different cognitive phenotypes and behavioral disorders, such as @PHENOTYPICFEATURE$, Asperger's syndrome, pervasive developmental disorder, attention deficit hyperactivity disorder, @DISEASE$, Leigh Syndrome and bipolar disorder.	false
+3b868e0ca29b6324670d0e68bd23a88cbc74b8aa	Concerning the @PHENOTYPICFEATURE$, its dyskinesias are various and difficult to differentiate from those in @DISEASE$ or other hyperkinetic movement disorders.	false
+37d67d49f81b496bbafa705f505086f983fa70ea	Concerning the movement disorders, its dyskinesias are various and difficult to differentiate from those in @DISEASE$ or other hyperkinetic @PHENOTYPICFEATURE$.	false
+5d04faa23d8ba95c83b189fbc99c6cc44be28a77	Lethal yellow (Ay) is a mutation at the mouse agouti (a) locus that is associated with an all-yellow coat color, @PHENOTYPICFEATURE$, diabetes, tumors in heterozygotes, and @DISEASE$ in homozygotes.	false
+73a40ecf58cf6d65c4409b898a1f5087f561db0b	Clinical assessments included the composite @PHENOTYPICFEATURE$ scale (@DISEASE$), D and E dimensions of the Gross Motor Function Measure (GMFM), and walking velocity was determined before treatment and at 6, 12 and 24 weeks after treatment.	false
+5520819783fa6ae8624be19398eb44244e590aa6	All the children showed a reduction of @PHENOTYPICFEATURE$ (@DISEASE$) after 6, 12 and 24 weeks of treatment (P < 0.05).	false
+8a882ce724e1e5ca423f92f8f3d8e9b04ccb3072	ARID1B haploinsufficiency has already been described in patients with intellectual disabilities with or without @PHENOTYPICFEATURE$, @DISEASE$ and autism (OMIM 614562 and OMIM 614556).	false
+34944e37250fdac3492f425bdc8d7b624236438d	Evaluations including the composite @PHENOTYPICFEATURE$ scale (@DISEASE$), lower-extremity subscale of Fugl-Myer Assessment (FMA), postural assessment scale for stroke patients (PASS), Berg Balance Scale (BBS), and modified Barthel Index (MBI) assessed before treatment, after 2 and 3 week treatment respectively.	false
+291167698ded5b031bec37c0844d08c660efca42	The Carotid Sinus Syndrome (@DISEASE$) is a rare condition causing spontaneous @PHENOTYPICFEATURE$ attacks or marked dizziness.	false
+b0e89289d3e31847717cf4e24f7a1dbb4b8bf3e4	The walking speed, step length, step cadence, Fugl-Meyer lower-limb scale (LL-FMA), composite @PHENOTYPICFEATURE$ scale (@DISEASE$), 10-Meter Walk Test (10MWT), Tinetti Balance Test (TBT) and nerve physiology testing were collected before and after intervention.	false
+7b3ab2dc57158dcf1b43b8865445b2a392725705	These components were used to create a canine @PHENOTYPICFEATURE$ scale (@DISEASE$; overall score range, 0 to 18).	false
+055bb8cf2196940f52ddadc26e1c9a7cac2501fe	In Churg and Strauss syndrome (@DISEASE$), three patterns of neurological involvement can be found, including mono or polyneuropathy, @PHENOTYPICFEATURE$ and stroke.	false
+3d210b4f19e833baea1636c956905d33f1410236	All the children showed a reduction of @PHENOTYPICFEATURE$ (PROM, MAS and @DISEASE$) after 2 weeks, 1, 2, and 3 months of treatment (P < 0.05).	false
+4f63f3c7be66e37540ad49d23a01ed2d3fd9f1ea	We describe the evolution of the phenotypic features for a male patient with @DISEASE$ from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile @PHENOTYPICFEATURE$ and upper airway obstruction.	false
+d757dcedb2dc15e5047b80575800bcc8c4ab6b4d	We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported @DISEASE$ patients, we expand the phenotype to include neonatal and infantile @PHENOTYPICFEATURE$ and upper airway obstruction.	false
+0f77cda23fab06758fdd38fe55b1edecff9dcdfa	@PHENOTYPICFEATURE$ and @DISEASE$ with standard-dose famotidine therapy.	false
+f3165d05e4abb1629fc39710b854c38203df31c7	Anovulatory patients with @DISEASE$ had a @PHENOTYPICFEATURE$ prevalence rate of 43%.	false
+5ecfee21ed5022111825e480a9906e469fe5547e	The regularity of prolactin secretion has not been studied with cuantitative methods in patients with normoprolactinemic @DISEASE$ (NPG) which could be considered an entity that precedes non tumoral and tumoral @PHENOTYPICFEATURE$.	false
+d0aa5fecc388c984e799051fbeee2960d9479011	@DISEASE$ and @PHENOTYPICFEATURE$, or both, have been described in some patients with polycystic ovarian disease.	false
+c6cafeea8cdcb52076c264ec0bd00d835094e3f0	@PHENOTYPICFEATURE$ causes hypogonadism, infertility and @DISEASE$.	false
+34d136d1dee90f89b240ab6e674c5e3d9b198c66	Post-thyroidectomy hypothyroidism, @PHENOTYPICFEATURE$, exophthalmos and @DISEASE$ with normal menstruation:  metabolic response to probenecid.	false
+2a7169cfcd10733c3c1e60b19842ed6ce4b7b0b2	A patient with primary adrenocortical deficiency presented with @DISEASE$ and @PHENOTYPICFEATURE$, in addition to the usual characteristic symptoms of adrenal insufficiency.	false
+abedcf7f94fe238f7a31ffa0bf38f967696d6684	Cessation of @DISEASE$ in a chronic kidney disease patient with non-tumoral @PHENOTYPICFEATURE$ after renal transplantation.	false
+af783146353b4998cf12194e796273ad6bc2180f	Among patients with undiagnosed vaginal bleeding, @PHENOTYPICFEATURE$ was present in more than 50% of them and in 46% it was associated with @DISEASE$.	false
+88514005320a960bbf4da74198f44a5b5c990888	@PHENOTYPICFEATURE$ and @DISEASE$ associated with mammary prostheses and unresponsive to bromocriptine.	false
+a46c022f42fec6fc2b507e17e4c6a123a129b793	The cardiovascular symptoms and the associated diseases are revised, and we discussed the diagnostic and therapeutic topics, pointing out the necessity to take it into account for any patient with @DISEASE$ or myasthenia gravis developing to @PHENOTYPICFEATURE$ or arrhythmias.	false
+f33e2dde9232c85d4b2773bce9698c33c24dd28a	@DISEASE$ is associated with multiple @PHENOTYPICFEATURE$, most commonly myasthenia gravis (MG).	false
+963cfa9ea817353ec25af743225750892bda6de9	Primary Sj?gren's syndrome (pSS) is an autoimmune disease associated with other @PHENOTYPICFEATURE$ like @DISEASE$, hypothyroidism or mucosa-associated lymphoid tissue lymphomas.	false
+2184be92be2f57485fc44f0267ca281d54b4f80c	@DISEASE$ is associated with a wide spectrum of @PHENOTYPICFEATURE$ paraneoplastic syndromes, though it is uncommon for multiple paraneoplastic syndromes to be present in a single individual.	false
+e80cf0bcb7eab89fb00ad50e9fdf80b8cb704428	@DISEASE$ (MPS I) results from a deficiency in the enzyme alpha-L-iduronidase (IDUA), and is characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly and neurological dysfunction.	false
+a6cc88b9ca12149e452753d261ccd644abb182ac	Besides a variety of other features, @DISEASE$ is characterized by a range of @PHENOTYPICFEATURE$ known as dysostosis multiplex.	false
+2247b80ada638765e8763b7e8f65e612c34f60aa	Most experience with allogeneic BMT was gained in patients with @DISEASE$, metachromatic leukodystrophy and adrenoleukodystrophy. Allogeneic BMT reduces the amount of storage material in internal organs: @PHENOTYPICFEATURE$ and neurological symptoms are at best stabilized.	false
+4349967a6b1ef83b2f60b4bdcde27f5bfc53aad1	Our demonstration of impairment of BMP-4 signaling by GAGs in multipotent stem cells in human Hurler syndrome identifies a mechanism that might contribute to the progressive neurological and @PHENOTYPICFEATURE$ in @DISEASE$ and related mucopolysaccharidoses.	false
+aaac06627776af1f47ef203e34a06c34b1adb864	Our demonstration of impairment of BMP-4 signaling by GAGs in multipotent stem cells in human @DISEASE$ identifies a mechanism that might contribute to the progressive neurological and @PHENOTYPICFEATURE$ in Hurler syndrome and related mucopolysaccharidoses.	false
+34600ed2e240fbc1c3ce905c0bae00797f7a24b0	@DISEASE$ (MPS I), a deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA), is characterized by @PHENOTYPICFEATURE$, hepatosplenomegaly and neurological dysfunction.	false
+fcd4135e05a38fe512c5ea94c3ed94b28a2ae674	Early cases manifested as meningitis, some patients suffered posterior circulation strokes, and later cases were more likely to present with localized infection at the injection site, including epidural abscess or phlegmon, vertebral diskitis or @PHENOTYPICFEATURE$, and @DISEASE$ with intradural involvement of nerve roots.	false
+27d78b990f8ed2f98a5c6fa697256ac5fcf07bfc	Mild burns caused reversible ocular injury; whereas more severe burns lead to corneal stromal scarring, vascularization, @PHENOTYPICFEATURE$, formation of calcific @DISEASE$ plus iris and ciliary body fibrosis.	false
+999970d1ab05d7a1cc0e5bd80e08f8e916ad4988	@DISEASE$ (MIM 606155) is a rare condition characterised by pachygyria, @PHENOTYPICFEATURE$, epilepsy and characteristic facies.	false
+0eef40f4b9eadbc5fdd5c67bd037cbc8a865ffbc	Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-@DISEASE$ (MIM 151050), which comprises craniodiaphyseal dysplasia, @PHENOTYPICFEATURE$, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin.	false
+e8c85348d5ebeca4894ab4189b348e66ce374a19	Lenz-@DISEASE$ (LMS) is a rare disease characterized by complex craniofacial, dental, cutaneous, and @PHENOTYPICFEATURE$ combined with intellectual disability.	false
+199fd897d23f50425d7f916e4d6d7e70573217ad	The @DISEASE$ or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to @PHENOTYPICFEATURE$.	false
+a386b267273fe8834a03600adfde176e7c102977	Amniotic band syndrome (@DISEASE$) is a rare developmental disorder associated with defects such as @PHENOTYPICFEATURE$, facial and/or palatal clefts, and dental anomalies like malformed or impacted teeth.	false
+e642a7d91ec009fe2cbc0f256a3f1947ad16a2a8	Five (33.3%) of them had absence epilepsy (absence seizures, @DISEASE$), 5 had IGE with generalized tonic-clonic seizures (GTCS), and another 5 had both @PHENOTYPICFEATURE$ types (IGE with ABS/GTCS).	false
+1271d01e841e4ce117dd05c59cc02dbe8a9acf8a	Five (33.3%) of them had absence epilepsy (absence seizures, ABS), 5 had IGE with generalized tonic-clonic seizures (GTCS), and another 5 had both @PHENOTYPICFEATURE$ types (IGE with @DISEASE$/GTCS).	false
+8d73bfa94e4c461b7f598b9ed86bd5892efb0704	Twenty-one patients with @PHENOTYPICFEATURE$ due to severe @DISEASE$ and no further improving with rehabilitation treatment and oral anti-spastic drugs.	false
+b07a314e1b56df1c8bdd9a193ca806769d74632c	Thus, an explicit experimental technique for assessing sensorimotor adaptation was found to support the utility and validity of @DISEASE$ assessment of @PHENOTYPICFEATURE$ individuals.	false
+52350fdc1465ab405752a2f52658f66fffdbc624	Those with @DISEASE$ did develop @PHENOTYPICFEATURE$ if the lesion involved the internal capsules, pericommissural areas, optochiasmatic cistern or brainstem.	false
+83ceb0efd6e6924f805bb868bd22aeef59bec90f	BT-A was effective and safe in the treatment of @PHENOTYPICFEATURE$ in severe @DISEASE$ patients, with a better functional outcome in those subjects treated earlier after spasticity onset.	false
+b680c7145049cefef34133c2fc30493bad285945	BT-A was effective and safe in the treatment of spasticity in severe @DISEASE$ patients, with a better functional outcome in those subjects treated earlier after @PHENOTYPICFEATURE$ onset.	false
+15c19e0a10c5569a9bc40d0957e852fe923cb3ac	The amniotic band syndrome (@DISEASE$) includes intrauterine amputations, @PHENOTYPICFEATURE$, fetal disruption, fetal compression deformities and constriction rings associated with disruption of the amniotic membrane.	false
+051e92b3e5144fd74d561587da088e6244e3af91	Teachers rated 550 @PHENOTYPICFEATURE$ adolescents attending special schools on the AAMD Adaptive Behavior Scale (@DISEASE$).	false
+e55fb64048d2136e842afa319d8606f392980d25	Furthermore, fetuses had hemorrhages, @PHENOTYPICFEATURE$, and amputation of limbs, similar to human @DISEASE$.	false
+4f6c7d81f3b78ec1d92def967022933d1ff6a41b	In patients with @DISEASE$ lesions affecting pyramidal tracts, pericommissural areas and optochiasmatic cisterns seem more likely to develop @PHENOTYPICFEATURE$.	false
+fe90284d716c0c4cd3c51c8dc81650476ba7b0af	To clarify the muscle pathology findings of a 39-year-old female Ch?diak-Higashi syndrome (@DISEASE$) case with diffuse limb @PHENOTYPICFEATURE$, histochemical and electron microscopic studies were performed.	false
+f1cd8a7dbbf17ed4222fdf30089f29fa68a49303	A 48-year-old man with the Hadju-@DISEASE$ developed progressive bilateral @PHENOTYPICFEATURE$.	false
+7496a4b9d65e5641af59df4ad0c3544aa2944846	@PHENOTYPICFEATURE$ due to optic nerve meningocele can occur in the Hadju-@DISEASE$.	false
+b04791c17e6dd3707d6d50bc72634666f170d825	Distal myopathy with rimmed vacuoles (@DISEASE$)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive @PHENOTYPICFEATURE$; eventually, affected individuals become wheelchair bound1.	false
+08c5b59a8dcd58cc2d10e21f5942a843f8bc7f5a	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the @DISEASE$.	false
+78f8acf7a027991dfb3ffe26bd722b16600b989a	Application of the system described may lead to safe and early diagnosis of @DISEASE$ in patients with atypical @PHENOTYPICFEATURE$.	false
+1fef1b4bd6c2f306f5494fe26bde84b28c302f81	pneumophila is a gram-negative gamma-Proteobacterium and the causative agent of @DISEASE$, a form of epidemic @PHENOTYPICFEATURE$.	false
+db33fda0f940507dab33482b15161a1d0938ffb7	@DISEASE$, asthma, hypersensitivity @PHENOTYPICFEATURE$) or non-specific (e.g. the Sick Building Syndrome).	false
+0fdfca2b06adba97c10da6d7859e7a690536156a	@DISEASE$ is an atypical @PHENOTYPICFEATURE$ with protean multisystem manifestations.	false
+d4d4e07c612294db6d153ffa31567e033f935090	Legionella pneumophila (Lp) is the causative agent of @DISEASE$, an atypical @PHENOTYPICFEATURE$.	false
+4f68b3f5d3839797306fcce7d0e965a594d5cf45	This bacterium can also infect humans by inhalation of contaminated aerosols, causing a severe form of @PHENOTYPICFEATURE$ called legionellosis or @DISEASE$.	false
+cb69af720550d2cd6b01ce4b75456009ecd08201	This bacterium can also infect humans by inhalation of contaminated aerosols, causing a severe form of @PHENOTYPICFEATURE$ called @DISEASE$ or Legionnaires' disease.	false
+cf249474a234984b4ba54c9b8e3c8c29fb557158	When inhaled by humans it can replicate within alveolar macrophages and cause a severe @PHENOTYPICFEATURE$, @DISEASE$.	false
+b0087a7bd59f10379a9d3e31915994337c8aae97	In two of these patients with both pericarditis and @PHENOTYPICFEATURE$ @DISEASE$ was present.	false
+9d5d965898c5602dcd2e93bd532e40e67e62562a	This newly established bacterial genus, Legionella, includes the agents of @DISEASE$, Pittsburgh @PHENOTYPICFEATURE$, and several related infections.	false
+25ecf47dff07a502fa6dec75812a4a36d8a7dd5c	[A case of @DISEASE$ and Branhamella catarrhalis @PHENOTYPICFEATURE$ complicated with malignant lymphoma].	false
+37e00adaf143866f6d428bd3efd54fbe13d0270d	Moreover, some combinations of defects are not observed (eg, neural tube defect and @PHENOTYPICFEATURE$, clefts and diaphragmatic hernia, omphalocele and @DISEASE$).	false
+60cbc234a30834c2b166633592f5fc2568f6affa	These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), @DISEASE$ (88 patients), imperforate anus (151 patients), @PHENOTYPICFEATURE$ (289 patients), and diaphragmatic hernia (75 patients).	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+3c797ddcb46562488b305454fa848e2e591f21c7	In contrast, the severity and frequency of @PHENOTYPICFEATURE$ in @DISEASE$ (PROMM) are still unclear.	false
+461969c23d2f8aa3079bf39dd1b50e97b33f01c5	The authors report an unusual manifestation of corneal involvement in a 10-year-old girl with @DISEASE$ who presented with unilateral peripheral ulcerative keratitis during @PHENOTYPICFEATURE$ exacerbation.	false
+d8fe02bd93513c3d98b8f7aa95eaa8d1d5d09705	Some patients with rheumatoid arthritis and @DISEASE$ are resistant to inhibitors of interleukin-1 and @PHENOTYPICFEATURE$ necrosis factor.	false
+47dde7fb8dd5eaa1379c65acb175317645506f14	A sixteen-year-old girl with @DISEASE$ diagnosis developed a progressive multiorgan failure including acute respiratory distress (ARDS), anemia and thrombopenia, elevated liver enzymes, @PHENOTYPICFEATURE$, coagulopathy with hypofibrinogenemia, and acute phase reactants elevation despite broad-spectrum antibiotics.	false
+216ca06aa2f1790eb62363f78b352ee4d1d86bf7	The main clinical findings observed in patients affected by @DISEASE$ include @PHENOTYPICFEATURE$ with developmental delay, whose pathophysiology is still undefined.	false
+3ca207fbb39a8fcb60cd8f0d83071dd90f208f7c	Females with tracheoesophageal fistula/esophageal atresia, or genital anomalies were more likely to have @PHENOTYPICFEATURE$, while some female subgroups had positive associations between urinary tract malformations, or @DISEASE$ and limb anomalies.	false
+f2fe07db18a5997900358627e0ca4330db40997f	Females with tracheoesophageal fistula/esophageal atresia, or genital anomalies were more likely to have limb anomalies, while some female subgroups had positive associations between urinary tract malformations, or @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1390b5f8a6629ed00ddc1f731d1a290ed1117a9c	Familial congenital @DISEASE$ with GATA3 associated @PHENOTYPICFEATURE$-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.	false
+7b12ec7615e5898e942834e6d05b9e1e96a7dfa4	However, when this therapy induces complete regression of primary @PHENOTYPICFEATURE$ (pT0-TRG1), node metastases and neoplastic @DISEASE$ could also disappear, as shown in our cases.	false
+97bdd7cfab8a8ced2a030d58b0475b3790ec3112	The OR (95% credible interval) of developing @PHENOTYPICFEATURE$ at 2-3 years was 0.72 (0.11, 4.49) for AZA versus CYC, 0.32 (0.04, 2.25) for @DISEASE$ versus CYC, 2.40 (0.22, 36.94) for prednisone alone versus CYC, and 0.45 (0.11, 1.48) for MMF versus AZA.	false
+17b130a890417970622290cb6ec3798a1288bc97	The OR (95% credible interval) of developing @PHENOTYPICFEATURE$ at 2-3 years was 0.72 (0.11, 4.49) for AZA versus CYC, 0.32 (0.04, 2.25) for MMF versus CYC, 2.40 (0.22, 36.94) for prednisone alone versus CYC, and 0.45 (0.11, 1.48) for @DISEASE$ versus AZA.	false
+1e632daa1426da655f77d71ade421cc15bdf1818	We assessed free MPA, total MPA, and MPAG kinetics in a patient with @PHENOTYPICFEATURE$ receiving MMF for a pancreas transplant, who presented with signs of @DISEASE$ toxicity.	false
+99929df0d4772f087084636440c29f725d9c52f9	However, when this therapy induced complete regression of primary @PHENOTYPICFEATURE$ (pT0-TRG1), we found that node metastases and neoplastic @DISEASE$ also disappeared.	false
+39139c161ff5a9f9cd0231afef7595e0f3bb535d	Because the major malformations phenotypic of @DISEASE$ may be visualized in utero (e.g., microtia, @PHENOTYPICFEATURE$, congenital diaphragmatic hernia, and cardiac malformation), diagnostic imaging should be performed.	false
+7cc1a46b0912e70dd09bc886338d3d1802ec45f2	Fewer aberrations were seen in @PHENOTYPICFEATURE$ of mice treated with @DISEASE$ or Rap.	false
+d1805c99a1fe95fc7c198698bf5a660b0a5dfc83	Although neither CsA nor MMF treatment affects p53-associated tumor incidence, @DISEASE$ may have some tendency to reduce clinical @PHENOTYPICFEATURE$ appearance.	false
+05e3532e9885685df476f65c83a5c79e9a340301	Although neither CsA nor MMF treatment affects p53-associated @PHENOTYPICFEATURE$ incidence, @DISEASE$ may have some tendency to reduce clinical tumor appearance.	false
+fe241d977b6c08748c839c4bfae991a2658901be	This shift in mutation spectrum was not essentially linked to the reduction in large @PHENOTYPICFEATURE$ because it was absent in large tumors similarly reduced in number when feeding Rapa in combination with @DISEASE$, possibly owing to an antioxidant effect of MMF.	false
+47c3ac0103076d9722b9d9b158208cb6e6a8c9c6	This shift in mutation spectrum was not essentially linked to the reduction in large tumors because it was absent in large @PHENOTYPICFEATURE$ similarly reduced in number when feeding Rapa in combination with @DISEASE$, possibly owing to an antioxidant effect of MMF.	false
+8f6ef2a29efb9711aae8f1b79754e312533e0e8e	Therapy with steroids and @DISEASE$ may be considered in a subset of IgAN patients with florid glomerular changes, functional impairment and major urinary abnormalities, to prevent subsequent progression toward @PHENOTYPICFEATURE$.	false
+5e86610184e04c915cdba480bd4820911eb4232a	Several questions remain: the optimal dose and length of induction with @DISEASE$ are unknown, the effect of MMF in severe cases of lupus nephritis with @PHENOTYPICFEATURE$ at presentation is unknown, and the compliance with long-term oral treatment in the adolescent population is certainly unknown.	false
+6fef2337fadd0c8645c11098ddbd5bf5404c7e5c	@DISEASE$ (DCM) is characterized by left @PHENOTYPICFEATURE$ associated with systolic dysfunction.	false
+d451929db817cae40f4009646b106892cf8790e0	The three patients with @DISEASE$-like features had progressive left @PHENOTYPICFEATURE$.	false
+bf3c5a45550018780ce97d8e946c7bf304aa0fc8	Echocardiography revealed left @PHENOTYPICFEATURE$ and diffuse hypokinesis mimicking @DISEASE$.	false
+45fcf97f0cd4091557fe303baf3f32c4798afc04	Left @PHENOTYPICFEATURE$ was present in three patients, and one patient had @DISEASE$.	false
+01951b362074c91b0deeef949c56c269026e4d3f	@DISEASE$ is characterized by left @PHENOTYPICFEATURE$ and dysfunction.	false
+5dd76e6895a1a00f4ac5a60dd34f8225596b4f17	@DISEASE$ (DCM) is revealed with the left @PHENOTYPICFEATURE$ and systolic dysfunction.	false
+c919dff8aa0aa304359e1e2bd01f8a81aa7577d1	@DISEASE$ (DCM) is characterised by left @PHENOTYPICFEATURE$ and associated with systolic dysfunction.	false
+1f3b472b0ac1b19434ec0c1a0e5622c08804b10f	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ with systolic dysfunction of cardiac muscle.	false
+cd3af298be80052aa416ba21292e71fc5db85b04	@DISEASE$ (DCM) is characterized by left @PHENOTYPICFEATURE$ and, consecutively, contractile dysfunction.	false
+4a67b62b67fdae30afa4d70162ec2c48fdb1b5ed	@DISEASE$ is characterised by left @PHENOTYPICFEATURE$ that is associated with systolic dysfunction.	false
+c6b26922c455bd7dece78c9f35f4967586502540	The main causes of bilateral @PHENOTYPICFEATURE$ were cataract, @DISEASE$, and eye loss/atrophy, while the main causes of monocular low vision were cataract, MD, and AMD.	false
+b692fd835249b95847c707c929c550a739669a9d	Moreover, the RNF213 variant was recently reported to be associated with non-@DISEASE$ disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and @PHENOTYPICFEATURE$).	false
+aaa684acd09999d361c40cbc031c78480c3f1fb3	Statistical analysis showed that advanced stages of @DISEASE$ and HT were associated with @PHENOTYPICFEATURE$ (p?<?0.05).	false
+63087671c55c1c261060f6c5ee856d0c3e80238e	@DISEASE$, glaucoma, and AMD were the main causes of @PHENOTYPICFEATURE$, while DR was becoming a major cause of VI, especially in working-age people of Jing-An District, Shanghai, China.	false
+975a0e6761eabda0a5df16cf0eefad58a914cf1f	The models were used to estimate the global prevalence of @PHENOTYPICFEATURE$ and VI associated with @DISEASE$ from 2000?to?2050.	false
+ec5674855c1024a43d8c946809cc934a46ee76a0	Oropharyngeal @DISEASE$, congenital glaucoma and @PHENOTYPICFEATURE$, and a calvarial defect: a new syndrome.	false
+ffb191b663a2315dcf9e5787d0bdbf3d9aad6681	In the study of splenic lesions, the most important problem is to differentiate between angioma, @PHENOTYPICFEATURE$, @DISEASE$, and metastasis.	false
+9ef10e8a96a19ec32a6769a2161b2a800e95262f	His clinical condition was typical of a highly aggressive disseminated @DISEASE$ and he presented important heterogenous @PHENOTYPICFEATURE$.	false
+311cd2d1ba8bb5e437cdbba99a91f29528c58d9f	Re-evaluation of three patients revealed that one had inclusion body myositis, one had sporadic @PHENOTYPICFEATURE$ and one subsequently developed nodular sclerosing @DISEASE$.	false
+b2ae125b4d656aba5498d85dd3a5e699dfe346bc	@PHENOTYPICFEATURE$ @DISEASE$, or body-cavity-based lymphoma, belongs to the group of non-Hodgkin B-cell lymphomas characterised by pleural, pericardial, or peritoneal lymphomatous effusions in the absence of a solid tumour mass.	false
+de63d80cedb1b2d91bfa2482e0c6171764a36f96	[Angiofollicular @DISEASE$ (@PHENOTYPICFEATURE$) of the mediastinum].	false
+d9831e2fd3468044c07de5e28bf8c8b57b8ddac9	Splenectomy was performed with the differential diagnosis including @PHENOTYPICFEATURE$ and @DISEASE$ of the spleen.	false
+a37e066e44c1af8f57b0b6cdeafeb2a3fc78c71b	They may occur subsequent to pleural reactions associated with many conditions, which include tuberculosis, viral pleurisy, malignancy and @DISEASE$, lupus, or rheumatoid-induced effusions, cardiac failure, and @PHENOTYPICFEATURE$, among other etiologies.	false
+2331d6bceece46cfdfb65fc612ac5116c2da87c4	Splenic @PHENOTYPICFEATURE$ associated with visceral leishmaniasis mimicking aggressive @DISEASE$.	false
+703c99e31d4e11412f5529838ebf2d6b4499a8f2	The 4 pathologies of the cardiac tumors were lipoma 2, @PHENOTYPICFEATURE$ 2, hemangioma 1, and @DISEASE$ 1. Intraoperative epicardial mapping using CARTO was performed in 5 patients(80%).	false
+b8f490e0aa5b0b21c03e498b8419a3027aef5609	The artificial kidney in the treatment of renal failure and @PHENOTYPICFEATURE$ in patients with @DISEASE$ and leukemia.	false
+2c52c862ed00a851b44bfb3478b6e8026b030f6b	Needle aspirates of @PHENOTYPICFEATURE$ (n = 8) were analyzed for EGFR [epidermal growth factor receptor (@DISEASE$ viral (v-erb-b) oncogene homolog, avian)] exon 19 in-frame deletions.	false
+d67f2cbe5ba46c904ce46c964f3cd517deae6acc	[Small-cell @PHENOTYPICFEATURE$ associated with @DISEASE$ reaction in peripheral blood and syndrome of disseminated intravascular coagulation].	false
+f174f1f8f739f5b03c6ebd4c984fdca067e7c7fa	The effect of the compounds was tested on a human @DISEASE$ cell line (K-562) and on four transplantable mouse tumors (L1210 lymphoid leukemia, P38 macrophage derived tumor, Ehrlich ascites carcinoma, Lewis @PHENOTYPICFEATURE$ /LLT/).	false
+d81f2cb19bf1e40da7ca20fa41b223aeace15f8c	@PHENOTYPICFEATURE$ neuropathy (multiple mononeuropathy) also has efficacious treatment options, but definitive evidence of a treatment effect for IgM @DISEASE$ and diabetic amyotrophy (radiculoplexus neuropathy) is lacking.	false
+5ae92837ddf95fc2a617cb32b2255d731e620232	We report on a male fetus with mandibulofacial dysostosis, including @DISEASE$-like upper limb deficiencies and lower @PHENOTYPICFEATURE$ which are characteristic of AFD Rodriguez type.	false
+7ab5efc52f2e973ef3f1dba699fe5356fd7d94ce	@DISEASE$ and lower @PHENOTYPICFEATURE$ were present in 28% of the cases.	false
+ad12806f3b0616bc82e75b20b7d0a4dd8d414d02	This report presents a 22-month-old girl with infantile type @DISEASE$ that was hospitalized for @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+ff958db030b60f212c144cc989be2f3e859d1ac5	Gene p63: In ectrodactyly-ectodermal dysplasia clefting, @PHENOTYPICFEATURE$-@DISEASE$, Rapp-Hodgkin syndrome.	false
+eb02961b2bded95763b0a6a54e31242e8d2cb6a2	Gene p63: In ectrodactyly-@DISEASE$ clefting, @PHENOTYPICFEATURE$-ectodermal dysplasia, Rapp-Hodgkin syndrome.	false
+9751b8f9314c9e616043207c070b3741f1cb1ad3	@PHENOTYPICFEATURE$-@DISEASE$-clefting (AEC) syndrome with neonatal erythroderma: report of two cases.	false
+6d864722e99ab0dded371d84a24890445d827daa	We describe two patients with @PHENOTYPICFEATURE$-@DISEASE$-clefting syndrome and provide a review of the literature.	false
+7f5f7cda0674eb36cfd5a7f0bdb85f0a90a5a6ec	@PHENOTYPICFEATURE$-@DISEASE$-clefting syndrome.	false
+531c1b11c56f780b6816e5f993703ade3d267533	Dominant mutations in TP63 cause @PHENOTYPICFEATURE$ ectodermal dysplasia and clefting (AEC), an @DISEASE$ characterized by skin fragility.	false
+4b5a715b8536c31eaf1d9c775bf89ae5eede8535	Dominant mutations in TP63 cause @PHENOTYPICFEATURE$ @DISEASE$ and clefting (AEC), an ectodermal dysplasia characterized by skin fragility.	false
+5fd6c5f22704c77dff0124b8a582b31d66b5e1fa	@PHENOTYPICFEATURE$-@DISEASE$-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.	false
+3484cc5599fbc29c6ada2d0dfeab76add6c8bd98	Cleft lip and palate repair in Hay-Wells/@PHENOTYPICFEATURE$-@DISEASE$-clefting syndrome.	false
+e122e8eb3de718e9db001e72bc3cf1bb2de37622	@PHENOTYPICFEATURE$-@DISEASE$-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts.	false
+577053f06e7cd1162d2782514426101e1e7cf807	@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), @DISEASE$, and orofacial clefts.	false
+82c028cfde2b2ba6dd9195e74b145227def2537a	BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-@DISEASE$ characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and @PHENOTYPICFEATURE$ and teeth.	false
+6c1c5c5e54b294bd360b6908593a4f7ffcc2cea9	BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-@DISEASE$ characterized by @PHENOTYPICFEATURE$, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+9cae9fda502a77eee377e20de2f1572dea7657b6	Furthermore, we observed reduced IKKalpha expression in the epidermis of an @PHENOTYPICFEATURE$ @DISEASE$ clefting patient.	false
+c6d6438a57995a81ba956b43d4d74739d4d871ea	Most frequently reported eye anomalies in the literature were lacrimal duct obstruction, @PHENOTYPICFEATURE$, @DISEASE$, congenital cataract, and colobomata.	false
+2cc1a2ef4f765a263ed863f581ac0512c1ab6a5a	Notable also was the reduction in incidence of @PHENOTYPICFEATURE$ following @DISEASE$ and cataract and the corresponding increase in cortical visual impairment (CVI) during this period.	false
+cdebcbcfedc88f40f0436a9af8d25191c92fbd1f	Notable also was the reduction in incidence of visual impairment following @DISEASE$ and @PHENOTYPICFEATURE$ and the corresponding increase in cortical visual impairment (CVI) during this period.	false
+187444743b9627e02c3abe0a8b683628b1063dca	Novel syndrome with @PHENOTYPICFEATURE$ and @DISEASE$ in three generations.	false
+88b34d4ddabd4aefc71fc31b7330193433470ace	However, 40 patients showed at least one abnormality in the phakic eye: reduced vision (21%), nystagmus (19%), cataract (15%), iris heterochromia (9%), myopia (6%), @PHENOTYPICFEATURE$ (6%), pupillary miosis (2%), @DISEASE$ (2%), optic nerve abnormality (2%), aniridia (1%), and corneal opacity (1%).	false
+0edd5518f2f405a75d0795d9c063fa0eee81bc73	However, 40 patients showed at least one abnormality in the phakic eye: reduced vision (21%), nystagmus (19%), cataract (15%), iris heterochromia (9%), myopia (6%), microphthalmos (6%), pupillary miosis (2%), @DISEASE$ (2%), @PHENOTYPICFEATURE$ (2%), aniridia (1%), and corneal opacity (1%).	false
+70b6b7d9c64da6a49d778cc8583e4adad514a3bc	However, 40 patients showed at least one abnormality in the phakic eye: reduced vision (21%), nystagmus (19%), @PHENOTYPICFEATURE$ (15%), iris heterochromia (9%), myopia (6%), microphthalmos (6%), pupillary miosis (2%), @DISEASE$ (2%), optic nerve abnormality (2%), aniridia (1%), and corneal opacity (1%).	false
+20016209540e330d076bf176b23660206b25d460	The associated clinical ocular signs could be congenital cataract, @DISEASE$ (the most common complication), keratopathy, ptosis, nystagmus, foveal aplasia, or @PHENOTYPICFEATURE$.	false
+5cf81d557a21eeedcb836c4e9f19ff2dffc23bf6	The associated clinical ocular signs could be congenital cataract, @DISEASE$ (the most common complication), keratopathy, @PHENOTYPICFEATURE$, nystagmus, foveal aplasia, or microphthalmia.	false
+b98f64912674ca197acedf7b2625ca40e2b4d4d9	He presented with bilateral complete @PHENOTYPICFEATURE$ and @DISEASE$.	false
+48d55a5689b475ca7bd3ac0afa9aebbe0635946f	@DISEASE$ and cataract were responsible for @PHENOTYPICFEATURE$ in 16 (13.1%)	false
+af1128e38c22c16cf293234a23c2cf2c37864139	@DISEASE$ and @PHENOTYPICFEATURE$ were responsible for visual impairment in 16 (13.1%)	false
+8987043b5d7bc634e2bf56646d19da3cdfad810c	@DISEASE$ is frequently associated with visual impairment due to optic nerve damage, corneal opacities, @PHENOTYPICFEATURE$ and amblyopia.	false
+24952c7b26e7e1848b5096a0a172aea12a681679	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$ due to optic nerve damage, corneal opacities, cataracts and amblyopia.	false
+d32c759b6be88642e2f7c7533ece708b66ae8a60	The eye complaints are often congenital cataract, @DISEASE$, @PHENOTYPICFEATURE$, and oculomotor disorders.	false
+e800304bfa4d0a09a29599102c56260d441eaec4	Congenital cataract was the most frequently occurring congenital ocular anomaly (42.6%); followed by @DISEASE$ (22.2%) and anophthalmia/@PHENOTYPICFEATURE$ and congenital esotropia (9.3%) each.	false
+bf2f273fb53c0b5c6ab08c3725047815fbe509c5	Congenital cataract was the most frequently occurring congenital ocular anomaly (42.6%); followed by @DISEASE$ (22.2%) and @PHENOTYPICFEATURE$/microphthalmia and congenital esotropia (9.3%) each.	false
+f6e220fe95cad1ed5f91f53232cf1fc2e59f183f	[@DISEASE$ presented as recurrent multiple @PHENOTYPICFEATURE$ after spontaneous regression of oculomotor nerve palsy: A case report].	false
+90d32047acdb16ec147da18e0b63796755253497	Included patients had @DISEASE$, ovarian cancer, or @PHENOTYPICFEATURE$.	false
+cea32f591328f74a1edde1a6c4ebe5dc8bead136	@DISEASE$ of jejunum with common variable @PHENOTYPICFEATURE$ and diffuse nodular hyperplasia of the small intestine.	false
+770cd9f89b97f251a4f94048ea089926e5c2f45e	Lymphomatoid papulosis (LyP) is a rare cutaneous @PHENOTYPICFEATURE$ in children, which can rarely be associated with a cutaneous or systemic @DISEASE$.	false
+6d218ade7a9fae1087da7af07b3556c3f258a86b	Pheochromocytoma, @PHENOTYPICFEATURE$, and lymphocytic @DISEASE$ associated with von Recklinghausen's neurofibromatosis.	false
+744fecfc4bb489a5fef73bbdb14530cf954e6e75	Among CD30+ primary cutaneous large-cell @DISEASE$, CD15 expression was only seen in @PHENOTYPICFEATURE$.	false
+8bee47b23e178ee583511656b41fb4775c38464f	XLP patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+7a382031b780d1dab847dc6ca7f6b70da38f377c	We report the case of a 62-year-old man who presented with @DISEASE$ as recurrent multiple @PHENOTYPICFEATURE$ after spontaneous regression of oculomotor nerve palsy.	false
+95e676888e9eb4e6af779edd3f1eb0e0a30461b7	A man with long-standing common variable @PHENOTYPICFEATURE$ was treated with chemotherapy and local radiation for diffuse mixed @DISEASE$.	false
+3007e9c4785e5f69d290bf672de6c4b0a9bbb267	The symptoms of primary renal @DISEASE$ (PRL) may mimic a @PHENOTYPICFEATURE$.	false
+c4efe4ddf17f051f188b5af1f6edb3a46c3a2d54	Patients operated on with breast-conserving surgery with an original @PHENOTYPICFEATURE$ size < 15 mm, who were treated with salvage mastectomy for IBTR, had in multivariate analysis the lowest relative risk for @DISEASE$.	false
+8216befb3cc98c8c8f9c99ef72a9e45066c4bcde	The current study analysed the outcome following treatment of ipsilateral breast @PHENOTYPICFEATURE$ recurrence (IBTR) and the risk for @DISEASE$ with the aim to identify risk factors for ULD.	false
+217e37587b7f9d52051f696f55e3dcfbdf3310f3	The current study analysed the outcome following treatment of ipsilateral breast @PHENOTYPICFEATURE$ recurrence (IBTR) and the risk for ULD with the aim to identify risk factors for @DISEASE$.	false
+562857014463504fd026f2771fe636d4ff9ca505	The subjects comprised 59 normal subjects and 12 patients with @DISEASE$ due to resection of acoustic @PHENOTYPICFEATURE$.	false
+8bca4982ecf543268e0c4766cf20bef18def4a49	The accuracy of the proposed @DISEASE$ single photon counting system is in the range of a few millimeters and therefore comparable to state-of-the-art @PHENOTYPICFEATURE$ tracking methods.	false
+86c0a2d53b7579a89be4a6fc325018580a492b17	@PHENOTYPICFEATURE$ in @DISEASE$ is thought to be multifactorial and can be influenced by almost all co-morbidities, requiring a multidisciplinary approach to the different medical problems.	false
+632b1dc679f6b4b9c754954f44d773afdacd0d59	@DISEASE$ is characterized by coloboma, @PHENOTYPICFEATURE$, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities.	false
+b7ded1e1b33e80b180db444b2c90a8a0bc9e0ee0	@DISEASE$ is characterized by coloboma, heart defects, choanal atresia, @PHENOTYPICFEATURE$, genitourinary malformation and ear abnormalities.	false
+cd049c769ede32f85e82da8aca9fc8cae79bba34	@DISEASE$ is a congenital disorder characterized by coloboma, heart defects, atresia of the choanae, @PHENOTYPICFEATURE$, genital hypoplasia, ear anomalies, and/or hearing loss.	false
+b41d724640de560ab1a3f16700b575c63a4603ce	@DISEASE$ is a congenital disorder characterized by coloboma, @PHENOTYPICFEATURE$, atresia of the choanae, retarded growth, genital hypoplasia, ear anomalies, and/or hearing loss.	false
+ad1beb90a53afaee6134af00d34c27fbe495145a	We experienced three cases of @DISEASE$ who displayed ocular coloboma, @PHENOTYPICFEATURE$, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.	false
+4b969c3c2c7d67b79f440142a249937a8c5024d5	We experienced three cases of CHARGE syndrome who displayed ocular coloboma, @PHENOTYPICFEATURE$, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning @DISEASE$.	false
+77ee8490fd46655008007ab7016eb503d68779ce	CHD7 mutations have been identified in patients with @DISEASE$ (coloboma, heart defects, choanal atresia, @PHENOTYPICFEATURE$, genital anomalies, and ear anomalies or deafness).	false
+29c6811b7cc96ae2e9c0f81ef215a2af6ca88903	CHD7 mutations have been identified in patients with @DISEASE$ (coloboma, @PHENOTYPICFEATURE$, choanal atresia, retarded growth, genital anomalies, and ear anomalies or deafness).	false
+e2ef92379e841cd96e23661c1481aea48c2ff68f	Clinical examination showed atypical @DISEASE$, with choanal atresia, a @PHENOTYPICFEATURE$, and sensorineural deafness.	false
+24ad30d39caca71de5dffe87a0f0e02be1c3e383	Point mutations in the CHD7 gene are causal in @DISEASE$ (a developmental disorder causing coloboma, @PHENOTYPICFEATURE$, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+3f62e7ab71ad20677c22f46f3de863066885a234	Point mutations in the CHD7 gene are causal in @DISEASE$ (a developmental disorder causing coloboma, heart defects, atresia choanae, retardation of growth, and genital and @PHENOTYPICFEATURE$) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.	false
+4a0c210a954820e866cc1fd4f067e27fc96cd946	This prompted us to study CHD7 in 46 patients with these @PHENOTYPICFEATURE$ and one other feature of @DISEASE$.	false
+fe44534a05866767af74344cbf8a5779d1e118f4	@DISEASE$ is a sporadic autosomal-dominant genetic disorder characterized by a complex array of birth defects so named for its cardinal features of ocular coloboma, @PHENOTYPICFEATURE$, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities.	false
+798e8131aa30b7e1490ef8105c21f412989a7fe8	@DISEASE$ is a sporadic autosomal-dominant genetic disorder characterized by a complex array of birth defects so named for its cardinal features of ocular coloboma, heart defects, choanal atresia, @PHENOTYPICFEATURE$, genital abnormalities, and ear abnormalities.	false
+31cabae093620eaba6310a7d80ed58fafd85d60b	@PHENOTYPICFEATURE$ is one of the main hallmarks of @DISEASE$ (CS), yet little is known about the body proportions of these children.	false
+c5b380fe3def290359b24c73c96b237fe518ac5f	There is both clinical and histopathologic evidence for peripheral visual field loss and @PHENOTYPICFEATURE$ in longstanding papilledema due to @DISEASE$ (IIH).	false
+ff601a4deb14a3537f1b135ea72dc82d4385cf9e	38 consecutive patients (9 men, 29 females, mean age 39.8 years) with @DISEASE$ underwent a complete neuro-ophthalmological evaluation including standardized automated perimetry as functional measurement of optic neuropathy and spectral domain optical coherence tomography (SD-OCT) measurements to grade papilledema or @PHENOTYPICFEATURE$.	false
+2c2ee4445255619b60eaec5010f79d01beaa8218	Loss of function mutations in FGG have been associated with fibrinogen deficiency, while the c.1423G?>?A mutation in @DISEASE$ causes a novel syndrome of neurodegeneration and early onset @PHENOTYPICFEATURE$.	false
+7999fd88b915cc81b48215eaf8399fca95d52cc6	We report a case of hepatic @DISEASE$ where the first clinical manifestations, @PHENOTYPICFEATURE$ after minor head and abdominal trauma, and delayed anaphylaxis, made the primary diagnosis difficult.	false
+efc72b1f9bbc25c5ea432ebfa14528227712d6be	Cystic Lung Lesions Mimicking @DISEASE$: @PHENOTYPICFEATURE$ or Benign Metastazing Leiomyoma?	false
+cb559449a67cd457bb10f89e000827b37c53ab85	Headache and motor deficits were the predominant symptoms in patients with intracranial hydatidosis whereas @PHENOTYPICFEATURE$ and spinal cord compression syndrome were the most frequent clinical presentations in patients with spinal @DISEASE$.	false
+961566956e9b3b79f95883261f76002823613e28	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+593f99464cf7d381387a28b30d2d5e0bc4169a45	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, @PHENOTYPICFEATURE$, and sensorineural hearing loss due to cochlear hypoplasia.	false
+ed19ba74b3fb2ebdc2563e8505776dc71cdc4e5c	Typical clinical features observed in @DISEASE$ patients include growth retardation, @PHENOTYPICFEATURE$, microcephaly, hearing loss due to cochlear malformations and, at cytological level, sister chromatid cohesion defects.	false
+3faaaf585aea4780d84701bd2ed27c765c5b9dfb	These associations with HSCR include Down's syndrome and other chromosomal anomalies, @DISEASE$ and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other @PHENOTYPICFEATURE$ associations.	false
+24098423e5e27ad7bd24314226cbcd14de795e74	We have determined that PAX3 (found previously to be mutated in @DISEASE$) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid @PHENOTYPICFEATURE$ alveolar rhabdomyosarcoma.	false
+18d04427d7acc693f7aad46b334b2dd9f8d638e4	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+f14d734750e38f59fadd87a06857b26947a2240b	Can a familial gastrointestinal @PHENOTYPICFEATURE$ syndrome be allelic with @DISEASE$?	false
+6c625d1a18693777e5bf6e22b314c2b1d637643a	Vasoproliferative @PHENOTYPICFEATURE$ of the ocular fundus associated with @DISEASE$.	false
+460ba892f685978c64ec991839270c7fcfd2e1c3	They are also involved in human diseases, @DISEASE$, Aniridia and @PHENOTYPICFEATURE$.	false
+c4267a1a35f6a0b14ffc738bb0e5c2c3e9c4f115	Heterozygous mutations in the TCF2 gene encoding the transcription factor HNF-11 cause a dominantly inherited developmental disorder that may be associated with various dysplastic and cystic lesions of the kidneys and renal insufficiency, disorder of pancreatic development and insulin-deficient @DISEASE$ diabetes, aberrant hepatic enzyme levels, gout and @PHENOTYPICFEATURE$.	false
+a70717a06d9191c37a31cf04aef8841631c06a8e	The coexistence in the same family of pleiomorphic renal malformations (cysts, renal agenesia or hypoplasia, @PHENOTYPICFEATURE$) with @DISEASE$-type diabetes, with an autosomal inheritance must lead to the search for a mutation of TCF2, one of the most frequent genetic renal diseases.	false
+5d41d299797c38e9a24b3466e549d5bca0ea570d	We describe two Norwegian children with fascioscapulohumeral muscular dystrophy in whom @DISEASE$, @PHENOTYPICFEATURE$, mental retardation and possible epilepsy were the presenting features.	false
+6a35514a5977e2e65552e4f5dacd865087669d41	Thrombin binding and aggregation were within normal ranges for platelets from @DISEASE$ patients (N = 4) and type V @PHENOTYPICFEATURE$ (N = 2), although in the latter case the response appeared to be less at very low thrombin concentrations (less than 30 mU/mL).	false
+4d307b23bff38c2258ce83cf88a39032cd09bddb	Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus @PHENOTYPICFEATURE$ and @DISEASE$.	false
+16b8f417ec21129a3b3cd41687566da9226e8918	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with @PHENOTYPICFEATURE$ (mutations in OPA3).	false
+01b042cef597741896d65089c2e030d4db6d66de	Plasma cell leukaemia may be present at the time of diagnosis (primary plasma cell @PHENOTYPICFEATURE$) or may evolve from @DISEASE$ (secondary plasma cell leukaemia).	false
+650c583aa3b8eb827639809a8dd762713d4eea56	Plasma cell @PHENOTYPICFEATURE$ may be present at the time of diagnosis (primary plasma cell leukaemia) or may evolve from @DISEASE$ (secondary plasma cell leukaemia).	false
+e11cea1961fbb73cb6801d96e6d542df082ad8a9	Plasma cell leukaemia may be present at the time of diagnosis (primary plasma cell leukaemia) or may evolve from @DISEASE$ (secondary plasma cell @PHENOTYPICFEATURE$).	false
+e1ffa2cfbe4c055ce28953cc083d0e89db070d76	@PHENOTYPICFEATURE$ on @DISEASE$.	false
+54a529cac345e6a39b4ceab854c568ad7d15b72e	Bilateral @PHENOTYPICFEATURE$ and corneal crystals in @DISEASE$.	false
+e1ffa2cfbe4c055ce28953cc083d0e89db070d76	@PHENOTYPICFEATURE$ on @DISEASE$.	false
+d1350e5c4b15d6bb0a9988c418c7ac83950e162e	However further investigations suggested the possibilities of carcinoma of stomach associated with pernicious anemia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+455f2b862feb336a586774a8e95baf371abd8963	Karyotype in @DISEASE$ and plasma cell @PHENOTYPICFEATURE$.	false
+2f79942c3e35851a7a755203117c89eb3c9d0095	@PHENOTYPICFEATURE$ and hemiplegia as an initial manifestation of @DISEASE$.	false
+05e868d36dbd3865f905235bc8aee74e36d58e3a	Uncommon manifestations of @DISEASE$ and plasma cell @PHENOTYPICFEATURE$.	false
+519f52e08c12808e1b7df7832bbd09610b945cf6	Plasma cell @PHENOTYPICFEATURE$ with alpha-interferon therapy in @DISEASE$.	false
+e1ffa2cfbe4c055ce28953cc083d0e89db070d76	@PHENOTYPICFEATURE$ on @DISEASE$.	false
+ce295506054154772e655b7356d7b0ac0a520192	The acrocallosal syndrome (@DISEASE$) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and @PHENOTYPICFEATURE$.	false
+f78f7eaf202299fc2176061dacbecfeb67737cdb	Chronic thyroiditis was associated in 3 out of 7 patients with isolated ACTH deficiency, and empty sella was found in each one patient with isolated @DISEASE$ deficiency and partial @PHENOTYPICFEATURE$, and in 3 patients with Sheehan's syndrome.	false
+293eca31b14d2a75ca5c51d8c3b87824d87f7b1f	Chronic thyroiditis was associated in 3 out of 7 patients with isolated @DISEASE$ deficiency, and empty sella was found in each one patient with isolated ACTH deficiency and partial @PHENOTYPICFEATURE$, and in 3 patients with Sheehan's syndrome.	false
+e9daae5618f6cb46e644afb162fa4fbd8a94cff1	This paper reports on @PHENOTYPICFEATURE$ in 38 patients with @DISEASE$.	false
+504d38fee464fa1e8b50b78d7160ced9a82cbf57	Sertraline alleviated osmophobia caused by partial @PHENOTYPICFEATURE$ with isolated @DISEASE$ deficiency.	false
+874b486aa354767a31998e0e3319ebd72373f153	Endocrine symptoms may include partial or total @PHENOTYPICFEATURE$, with adrenocorticotropic hormone (@DISEASE$) deficiency being the earliest and most frequent alteration.	false
+f7abd0f9022d0eae102dbdc11f71bf6c1a448e14	@DISEASE$ is caused by mutations in fibroblast growth factor receptor 2 (Fgfr2) and is characterized by craniosynostosis and other @PHENOTYPICFEATURE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+1c927f79c067f873d3def23f62a71f9af87d3773	@PHENOTYPICFEATURE$ and aging were associated with decreased use of interventional therapies and guideline-recommended medications in @DISEASE$ patients.	false
+8fdd16d17a5c05391d433cafa18bc55577014dfd	@DISEASE$ is one of the craniosynostosis syndromes which, due to its association with other @PHENOTYPICFEATURE$, is also known as acrocephalosyndactyly.	false
+a605aec3e8b3fad5ff353136ff6fc0aeaebce4ac	In 16 family members of 5 patients (each 1 with partial @PHENOTYPICFEATURE$ and isolated @DISEASE$ deficiency syndrome, and 3 with Sheehan's syndrome), APA in their sera were investigated.	false
+0f1b859ae7fe4f3cbc6e8cea953929514dcd6d84	To investigate the feasibility of Tumor Burden Score (@DISEASE$) to predict tumor recurrence following curative-intent resection of non-functional pancreatic neuroendocrine @PHENOTYPICFEATURE$ (NF-pNETs).	false
+9e0664c80bb4b6ac9f2d945edfcc303a1b1a9403	To investigate the feasibility of Tumor Burden Score (@DISEASE$) to predict @PHENOTYPICFEATURE$ recurrence following curative-intent resection of non-functional pancreatic neuroendocrine tumors (NF-pNETs).	false
+c92e0e83312b565047c1e2d8e90252e59cb597a2	@DISEASE$ may be an accurate tool to account for the impact of @PHENOTYPICFEATURE$ morphology on long-term survival among patients undergoing resection of CRLM.	false
+bad2c956269420508c1644e0c2b82bd6c7d21ac0	This study was designed to detect TB in 44 resected primary CRC cases and also to compare ?-catenin expression in the @PHENOTYPICFEATURE$ budding sites (@DISEASE$) and in the tumor center.	false
+020320ae8d136469e144edf9bd3f60c380455358	This study was designed to detect TB in 44 resected primary CRC cases and also to compare ?-catenin expression in the tumor budding sites (@DISEASE$) and in the @PHENOTYPICFEATURE$ center.	false
+2fb9dc95640bd202d96a585bfc5f16e52ea7b79b	Gene mutations that have dominant inheritance and cause RHD, @PHENOTYPICFEATURE$, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (@DISEASE$).	false
+6b7ab5f669483d865085c45a6d469cb7f2a904a0	The corrected Akaike score information criteria value of the @DISEASE$ model (2865) was lower than the traditional @PHENOTYPICFEATURE$ morphologic categorization model (2905).	false
+b2e4225d8ef5b8f0368245adbbf8f09083d1a215	Recently, the @PHENOTYPICFEATURE$ burden score (@DISEASE$) has been proposed for selecting patients with colorectal liver metastases.	false
+d874d563f9496571af873a8497bab17eeceeb650	The discriminatory power [area under the curve (AUC)] and goodness-of-fit (Akaike information criteria) of the @DISEASE$ model versus standard @PHENOTYPICFEATURE$ morphology categorization were assessed.	false
+9738f7960b3eda5a5207ebed06a403a1d39100fa	On the other hand, there was no significant correlation between @DISEASE$ and age, @PHENOTYPICFEATURE$ size, lymph node status or clinical stage.	false
+325af59b96965a166d2f26ced3772ac046646425	TBS (AUC 0.74) out-performed both maximum @PHENOTYPICFEATURE$ size (AUC 0.65) and number of tumors (AUC 0.5) to predict RFS (@DISEASE$ vs. maximum tumor size, p?=?0.05; TBS vs. number of tumors, p?<?0.01).	false
+d5bc5595c670ae9702fcfa22674bcf14927cb530	TBS (AUC 0.74) out-performed both maximum tumor size (AUC 0.65) and number of @PHENOTYPICFEATURE$ (AUC 0.5) to predict RFS (@DISEASE$ vs. maximum tumor size, p?=?0.05; TBS vs. number of tumors, p?<?0.01).	false
+a7490da70b5852ede3e4343c0c28b0a1c3e4083a	TBS (AUC 0.74) out-performed both maximum tumor size (AUC 0.65) and number of tumors (AUC 0.5) to predict RFS (@DISEASE$ vs. maximum @PHENOTYPICFEATURE$ size, p?=?0.05; TBS vs. number of tumors, p?<?0.01).	false
+185336c3cf0542c90fe9b0d8d2321323449c5cb0	TBS (AUC 0.74) out-performed both maximum tumor size (AUC 0.65) and number of tumors (AUC 0.5) to predict RFS (@DISEASE$ vs. maximum tumor size, p?=?0.05; TBS vs. number of @PHENOTYPICFEATURE$, p?<?0.01).	false
+5318b49f6977e363a9fa5365e08b23d6129bc0ba	The @PHENOTYPICFEATURE$-bearer sera (@DISEASE$) were subjected to chromatography on unsolubilized protein A and Sepharose 4B.	false
+aa6b96a5925004d24d6aae425cbea45cfa3866c9	The patient had none of the following risk factors for pulmonary emboli: malignancy, neurological disease, heart disease, @PHENOTYPICFEATURE$, pregnancy, or a congenital coagulative abnormality such @DISEASE$ of AT-III, protein C, protein S, or plasminogen.	false
+6406cb04300edb660c4eec38892e3e6d35eba245	Sim1(+/-) mice are hyperphagic but their energy expenditure is not decreased, distinguishing them from other mouse models of early-onset @PHENOTYPICFEATURE$ such @DISEASE$ in leptin and melanocortin receptor 4. Quantitative histological comparison with normal littermates showed that the PVN of Sim1(+/-) mice contains on average 24% fewer cells without a selective loss of any identifiable major cell type.	false
+a860be8eff4789cfd6726d6561b0ee914a34af7c	Results demonstrated that both sites experienced some @PHENOTYPICFEATURE$ in infancy, evident @DISEASE$ in transverse diameter.	false
+850b53cb3592632bccdc4d0dcf6df8323eedd88f	While the gastric bypass procedure usually results is greater sustained weight loss (40-50%) than adjustable gastric banding (20-30%), it also carries greater morbidity and nutritional/metabolic issues, such @DISEASE$ in iron, B12, calcium, and vitamin D. Following bariatric surgery most subjects experience improvements in diabetes control, hypertension, dyslipidemia, and other @PHENOTYPICFEATURE$-related conditions.	false
+a4614ece579ca83aae52705086c1818ef0b182de	Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, @PHENOTYPICFEATURE$, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and @DISEASE$; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.	false
+9c5e3f0c7262f9e3836cee9e51b44b748bb48e5c	Based on this survey the following classification is suggested: type I (56.2% of cases), @PHENOTYPICFEATURE$ of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and @DISEASE$; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.	false
+78f5654e9c82f0a6f47842f2fa3358d3b0d13b9e	Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar @PHENOTYPICFEATURE$, natal or neonatal teeth, and @DISEASE$; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.	false
+1f623a4490be3f63fb0cab203ee1e15b22a2a66a	The sisters reported here display the distinguishing clinical features of @DISEASE$: pre- and post-natal growth restriction, microcephaly, intellectual disability, @PHENOTYPICFEATURE$ with cochlear abnormalities, and facial dysmorphic features.	false
+fd0fbf78d73e2f1a71af550b1e77aaa440b32ffb	@DISEASE$ (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and @PHENOTYPICFEATURE$.	false
+f34ea43067215c20e6966bc554988cdce405bad2	@DISEASE$ (WABS), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+23b7cba8a962823fd36df9b9f2fb034cd3bf9aca	Warsaw breakage syndrome (@DISEASE$), caused by bi-allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre- and postnatal growth retardation, microcephaly, intellectual disability, facial dysmorphia, and @PHENOTYPICFEATURE$ due to cochlear hypoplasia.	false
+cb6410adfeb94bd6fa4ef3334000dd02f57f4b87	The patient had @PHENOTYPICFEATURE$ with evidence of bilateral hypoplastic cochleas on imaging, another feature which has been reported in the previous cases of @DISEASE$.	false
+040482f6c3236161e8dd45b1fce1c1fdb5b0f33e	@DISEASE$ (AS) is a neuropsychiatric disorder characterized by @PHENOTYPICFEATURE$, intellectual disability and motor disturbances.	false
+b813011c4c37b06dd0ffd90699fea0cb8325ea65	Effect of epilepsy on @PHENOTYPICFEATURE$ symptoms in @DISEASE$.	false
+a79f71e7013f31044fd027508785af7b6d62ddd4	Identification of @PHENOTYPICFEATURE$ in children with @DISEASE$ presents a diagnostic challenge.	false
+f13b8143357970cbd0d61abf275e3e10b07d065c	The implications of the possible association of @DISEASE$ and @PHENOTYPICFEATURE$ are discussed.	false
+5ec476accd03291b1f87346b93c42be529a8e6d1	Loss of UBE3A causes @DISEASE$, whereas excess UBE3A activity appears to increase the risk for @PHENOTYPICFEATURE$.	false
+942d98a127ec2d2c78f7017aa9ac0dc8212d3ce1	The 10 children with @DISEASE$ and comorbid @PHENOTYPICFEATURE$ were compared with eight children with only autism regarding their social and communicative skills.	false
+3cd5deb4e74be9a23f73629aa4912a11f0f0a1d6	The 10 children with @DISEASE$ and comorbid autism were compared with eight children with only @PHENOTYPICFEATURE$ regarding their social and communicative skills.	false
+7869046957a964bac3274b3e309785149640c598	Evaluation of @PHENOTYPICFEATURE$ traits in @DISEASE$: a resource to unfold autism genes.	false
+c3ede09c4fd7f5b65d20def008fcc59f7d717c86	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by a number of neurological problems, including developmental delay, @PHENOTYPICFEATURE$, and epilepsy.	false
+c6157397c57edce4a2f0883167bc8ba6298b8a63	Many had prior diagnoses of @PHENOTYPICFEATURE$ and/or @DISEASE$.	false
+165d34fa557ccb9401e70568cde7ba38afbdf1e2	@DISEASE$ (AS) is a neurodevelopment disorder characterized by severe cognitive impairment and a high rate of @PHENOTYPICFEATURE$.	false
+f17f63856d7b6229a59db2de433d5a396fe890c4	We report a patient with the @DISEASE$ and acromegaly, who developed secondary hypothyroidism and @PHENOTYPICFEATURE$, in whom surgical removal of the pituitary tumour was technically difficult.	false
+db63d53df02303100b8524d1c1427f3982a061b2	The Motivation Assessment Scale (@DISEASE$) is a 16-item questionnaire that addresses the situational determinants of self-injurious behavior in persons with @PHENOTYPICFEATURE$ and other developmental disorders.	false
+960c823dad253262db412a5b620df193be0e9853	Meconium aspiration syndrome (@DISEASE$) disrupts perinatal decreases in pulmonary vascular resistance (PVR) and is the commonest cause of neonatal pulmonary @PHENOTYPICFEATURE$.	false
+3c3d71ed18c322a60f57ade4e3bb7961ec94ada2	In adjusted analyses, there was a small increase in autism risk associated with MSAF exposure (adjusted relative risk (aRR) 1.18, 95% confidence interval (CI) 1.12 to 1.25), and a marginal association that failed to achieve significance between @DISEASE$ and @PHENOTYPICFEATURE$ (aRR 1.08, 95% CI 0.98 to 1.20).	false
+d3e964485ad1c9a26cb5288b018841ed08aa2d86	The aim of our study is to clarify the perinatal predictive factors of meconium aspiration syndrome (@DISEASE$) with @PHENOTYPICFEATURE$ (ND) in infants.	false
+4d1db5784824d78205478e7639cd8e60c5f85a2d	Children exposed to meconium (MSAF and @DISEASE$) were more likely to be diagnosed with @PHENOTYPICFEATURE$ in comparison with unexposed children (0.60% and 0.52%, vs 0.47%, respectively).	false
+da135907284cb97b44ab3825035937f876a32679	Construct validity of the Motivation Assessment Scale (@DISEASE$) (Durand, Crimmins, The Motivation Assessment Scale 1988) was studied using Rasch analysis data from 67 children (246 MASs), with dual diagnosis of @PHENOTYPICFEATURE$ and intellectual disability or with intellectual disability only.	false
+23188c43aa1e0d10ce4134e02529451055301362	These findings suggest that infants with the diagnosis of @DISEASE$ manifest later @PHENOTYPICFEATURE$, even if they respond well to conventional treatment.	false
+f7b5b27f69ec1d63133e88ce5676590ff0cb1809	This report describes a case of a 19-year-old Macedonian woman presenting with @DISEASE$ and renal @PHENOTYPICFEATURE$ who was successfully treated with aorto-aortic bypass, including reconstruction of both renal and the hepatic and superior mesenteric arteries, and reviews the current literature.	false
+846ea9664d51b5b69b616572e16f2a82cccc3288	Mutations in the gene encoding B1 subunit of H+-ATPase cause @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7f1d5a17e5650a438c327dfca2608c1642af0ef7	Defects result in a number of renal and eye disorders, including type-II @DISEASE$ and @PHENOTYPICFEATURE$.	false
+abd16dac6fbb6089885c2be1f856057d7d2167ef	We report here the case of a 45-year-old woman referred to our centre because of diarrhoea and @PHENOTYPICFEATURE$, who had already received a diagnosis of primary biliary cirrhosis, Sj?gren's syndrome and @DISEASE$.	false
+4d36c468527580ea0b2e044f28e46ceb04e712c4	At this dose, two of six patients developed a reversible, dose-limiting @DISEASE$ and a slight increase in serum creatinine the week after the second and third courses of treatment, respectively, whereas three of six patients experienced short-lived grade 4 neutropenia/@PHENOTYPICFEATURE$.	false
+3ec347306c8aba0098c8c7dcce90262e4c2b0a4a	The rare adolescent form is characterized by mild @DISEASE$, mild to moderate @PHENOTYPICFEATURE$, and otherwise normal growth and development.	false
+d691434f0bf99540eaa87a5941e707523b6b3171	He also suffered from some additional anomalies, including unilateral choanal atresia, @PHENOTYPICFEATURE$, and bilateral developmental dislocation of hip, while further studies showed @DISEASE$ and hearing impairment in addition to cholestasis.	false
+8700d6868b98c0c956dfea99bcb7a2fcb9031e08	@DISEASE$ and @PHENOTYPICFEATURE$: an autosomal recessive syndrome.	false
+a01a91de8db4c9f31b370b89d7e1677a9ce0fc87	@PHENOTYPICFEATURE$/glaucoma and Wilms tumor in a sibship with @DISEASE$ and sensory nerve deafness.	false
+1432f4481b74024562a3c38085c2b84faeb3c5ec	Aniridia/@PHENOTYPICFEATURE$ and Wilms tumor in a sibship with @DISEASE$ and sensory nerve deafness.	false
+09d6a900041ddce3fd90975fd968c258eabe5526	Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+43cf4a684a0a1079109a89f55e500f68ef3f03ce	This is the first known reported case of autosomal recessive syndrome of @DISEASE$ and @PHENOTYPICFEATURE$ in the otorhinolaryngological literature.	false
+ccdc5f4d9f6baa2748d574fddc86e42fb434c729	Therefore, we propose that ANM should be considered as a possible diagnosis for patients with adult-onset @DISEASE$, particularly for those with @PHENOTYPICFEATURE$.	false
+27bc057fb96b4ae4c02f06230009d7e4ca94d1a3	Differential diagnosis of this syndrome include other forms of neuromuscular disorders with peroneal muscular atrophy like hereditary motor @PHENOTYPICFEATURE$ (HMSN) and @DISEASE$, which need exclusion before confirming this rare entity.	false
+a7a1565cef12c540f97268460642ad6a437405d7	Thyrotoxic periodic paralysis is a rare and @DISEASE$ lethal neuromuscular disease that manifests as recurrent episodic muscle weakness associated with @PHENOTYPICFEATURE$ and thyrotoxicosis.	false
+e56ab705dcd62ae1208f06cde4530c6cf4f6dee4	@DISEASE$ @PHENOTYPICFEATURE$-related policy approaches have recently been receiving more attention.	false
+13cea250aac582298d6bb2be4e0b9c4be3cc83c0	Results indicate that perioperative somatosensory evoked @DISEASE$ abnormalities were common in newborns (41%) but not in infants (13%) with @PHENOTYPICFEATURE$.	false
+f6935eac796f2a682f2942721ed0a560f7904204	Increased left ventricular mass may also mediate myocardial ischaemia with @DISEASE$ evolution towards @PHENOTYPICFEATURE$ and arrhythmias.	false
+9c12f6a52b8153fd1110da64f9b008aa3ff703fe	It was thought that cardiac @PHENOTYPICFEATURE$, with @DISEASE$ as the main component, was responsible for this clinical condition.	false
+f397e5a543956be2b1ee106f68af42b2db7567af	Cyanotic patients have @DISEASE$ @PHENOTYPICFEATURE$ and malnutrition due to hypoxemia and other reasons.	false
+788497f95dfc6be87b38a037e83b4e36dde25947	A woman experiencing very strong urgency and associated frequency of micturition, but no incontinence, and deep @PHENOTYPICFEATURE$ was eventually diagnosed with idiopathic detrusor overactivity with symptoms of overactive bladder symptom complex and @DISEASE$ bladder pain syndrome.	false
+6dda5dd4318c6a86ad68498a9e770552c247dc69	Plasma insulin levels during pregnancy, in @PHENOTYPICFEATURE$ and @DISEASE$ diabetes.	false
+eb41d8b79e2599de3e9de1d6f0663f84e2f7f8a1	Major concerns exist about the safety of MSC-based therapies, including possible abnormal @PHENOTYPICFEATURE$ and @DISEASE$ cancer evolution.	false
+ff1547332d25e0e263877c31315d6d94fb081934	We have recently reported that large CMN (lCMN), which are classically associated with an increased @PHENOTYPICFEATURE$ risk, harbour cell subpopulations with specific clonogenic and tumorigenic @DISEASE$.	false
+84509229145ccf7a1c95767d32206ef349c92c37	Multiple ophthalmic abnormalities were found, including hypertelorism, telecanthus, @PHENOTYPICFEATURE$, antimongoloid palpebral fissures, exotropia, @DISEASE$, and tortuosity of the retinal vasculature.	false
+a6952a8b7311566eaf98dde2ffe46288a743181c	Acquired alopecia, mental retardation, short stature, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dedf1228a80a3e148ec407a352f00eaeb9db76c4	Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ enlargement, axial hypotonia, hypertonia in @PHENOTYPICFEATURE$ jerks, @DISEASE$ and bilateral cherry-red spots.	false
+d011dd4514d1167e543eaa56d7251c2e7c6ce90d	Intracranial calcifications, epilepsy, and @DISEASE$ associated with @PHENOTYPICFEATURE$: a case report.	false
+8f52ef01782b9d8481d3535bbb4d6352e2397dcc	@PHENOTYPICFEATURE$ of the hands, feet, and face were suggestive of a PEHO-like condition (progressive encephalopathy, edema, hypsarrhythmia and optic atrophy), although @DISEASE$ and hypsarrhythmia were absent.	false
+118a55cdbe0ab99af6e3030bad22f76e73ef044f	Edema of the hands, feet, and face were suggestive of a PEHO-like condition (progressive encephalopathy, @PHENOTYPICFEATURE$, hypsarrhythmia and optic atrophy), although @DISEASE$ and hypsarrhythmia were absent.	false
+860670e460dc781e63dad8d0a69a9b9e7e2cd7aa	Edema of the hands, feet, and face were suggestive of a PEHO-like condition (progressive encephalopathy, @PHENOTYPICFEATURE$, hypsarrhythmia and @DISEASE$), although optic atrophy and hypsarrhythmia were absent.	false
+a036526aa1409bc2fd660bc3cdfa396b11516bea	@PHENOTYPICFEATURE$ of the hands, feet, and face were suggestive of a PEHO-like condition (progressive encephalopathy, edema, hypsarrhythmia and @DISEASE$), although optic atrophy and hypsarrhythmia were absent.	false
+2c43db4ce3e32b8f5b79207d5249b39d10c089c2	Unknown diagnosis in two male cousins with @PHENOTYPICFEATURE$, @DISEASE$, abnormal EEG, and severe psychomotor retardation.	false
+d0a2f6358ae9aba116a6bc3d11bd9cabb56b0e4b	[Post-@PHENOTYPICFEATURE$ @DISEASE$].	false
+7911d40d96bee1141e0181faba9fc4f81eba1787	We report a 14-year-old male, born to consanguineous parents, with @PHENOTYPICFEATURE$, intracranial calcification, severe mental retardation, cataracts, @DISEASE$, pigmentary retinopathy, contractures, scoliosis, and failure to thrive.	false
+c0cbe3b69d3a40ebaf355dd8a329649a9e9cdfa5	We report a 14-year-old male, born to consanguineous parents, with microcephaly, intracranial calcification, severe mental retardation, cataracts, @DISEASE$, pigmentary retinopathy, contractures, scoliosis, and @PHENOTYPICFEATURE$.	false
+c15e166ac5a2b4fd804c3e641054ccf95da4e3b4	[Growth retardation-@PHENOTYPICFEATURE$-pseudoanodontia-@DISEASE$].	false
+72c65b25c6c220b1f7b30356b7b6a91cdec40517	Optic disc @PHENOTYPICFEATURE$ preceded the development of @DISEASE$.	false
+dbe242654772251bd7cc4a72aec58e646b85a0c6	New case of bilateral upper limb @PHENOTYPICFEATURE$, facial clefts, and @DISEASE$.	false
+e3ecad54ff1da0347cdae4473391b055a64ba492	We report on a male patient with bilateral upper limb @PHENOTYPICFEATURE$, facial clefts, and bilateral @DISEASE$.	false
+3a78442a5e998ff62335536add3164bac2a17cc9	Severe generalized @PHENOTYPICFEATURE$, nerve optic atrophia, ear problem and disability with @DISEASE$.	false
+117a271023bb1fc3c5c21a0b9370a4393f4cee4a	We report 5 cases of bilateral abductor paralysis of the vocal cords (@DISEASE$) with attacks of nocturnal asphyxia in patients with Parkinson disease, Shy-Drager syndrome, amyotrophic lateral sclerosis and @PHENOTYPICFEATURE$ of the posterior cranial fossa.	false
+eaeb3a2649da0cd65d0a33e58eb8056d1f29889b	Tonsillar herniation, abnormal anthropometric growth, relative spinal @PHENOTYPICFEATURE$, and abnormal somatosensory function have been reported in @DISEASE$.	false
+8fd010ab97d3fe542f2981fecacac540a417c16f	Anterior spinal @PHENOTYPICFEATURE$ has been described as a potential driver for the onset and progression of adolescent idiopathic scoliosis (@DISEASE$).	false
+9853da78425cba49f8e8c0e4d37575f9cd8572a0	A decrease of cervical lordosis and @PHENOTYPICFEATURE$ is commonly associated with @DISEASE$.	false
+464fd4eadd17847e372ae7586f6ffa68faac1ccc	@PHENOTYPICFEATURE$ hypoglycaemia is more common in some countries than others and is most often due to autoantibodies to insulin (@DISEASE$).	false
+68ad28523597dfc1da2c751fd3d088238d14c236	It has recently been accepted that the development of @DISEASE$ is closely associated with spinal @PHENOTYPICFEATURE$.	false
+c4b371aa7ee0351e66365c5b8972a46f655f2a68	Vertebral anterior @PHENOTYPICFEATURE$ has been suggested as part of the etio-pathogenesis of adolescent idiopathic scoliosis (@DISEASE$).	false
+63786897a32f364401463c8bd4203c0df994a517	In our cohort of preoperative @DISEASE$ patients, @PHENOTYPICFEATURE$ ranged from mild to severe, and in 2 cases, affected the surgical timing.	false
+3d4cf13d3bce7529b4cca8b1471af36af683049b	Excess anterior length of the spine in @DISEASE$ has been described as a generalized growth disturbance, causing relative anterior spinal @PHENOTYPICFEATURE$.	false
+bfa8f2c94f60f2124df2eb9af4512fe07ee56694	Inclusion criteria are @DISEASE$ patients, younger than 20 years old, female, operated between 2009 and 2013 with posterior @PHENOTYPICFEATURE$ and instrumentation who had 1600 mL autologous blood collected before operation.	false
+2e0fce8715403d08a815471517c2c98228f0e6a2	Unexpected findings for each of skeletal maturation, asymmetries and @PHENOTYPICFEATURE$ are not explained by prevailing theories of @DISEASE$ pathogenesis.	false
+73824a8ffe6b1f8e61a83a51d1d1bb6bb2e589b1	@DISEASE$ is a reversible cause of @PHENOTYPICFEATURE$, and thyroid function testing should be considered in its diagnostic work-up.	false
+d0385039b1b27a90d6bc3ab5d64fef89c19db44f	In 2012, two human Mendelian diseases: syndromic diarrhea/tricho-hepato-enteric syndrome (@DISEASE$) and Ponto-@PHENOTYPICFEATURE$ type 1(PCH1) were linked to the RNA exosome or its cofactor's defect.	false
+1b806b15270919f854e9cc2966b9ff4968c64dac	In 2012, two human Mendelian diseases: @DISEASE$ (SD/THE) and Ponto-@PHENOTYPICFEATURE$ type 1(PCH1) were linked to the RNA exosome or its cofactor's defect.	false
+7f374c2932904d9e464a12c5520cffa6ecedbfe9	In this trial, side effects reported with sunitinib were those previously reported in other @PHENOTYPICFEATURE$ types, including hand-foot @DISEASE$, and hypertension.	false
+ed480e90163a3e41d010be0b44338747c3813d35	Keratin 9 gene @PHENOTYPICFEATURE$ heterogeneity in patients with @DISEASE$.	false
+4dc2c5bf70097190197e54759a0b94ea374f6638	A de novo @PHENOTYPICFEATURE$ in the keratin 9 gene in a family with @DISEASE$ from northern Sweden.	false
+17a814bed49409b64943e253b610433d43c15bb4	A clinical outpatient study measuring serum oxidative stress index (calculated as serum oxidant/antioxidant ratio, in the form of serum total hydroperoxide/serum biological antioxidative potential), serum terminal complement component 5a, as an indicator of complement activity and immunological status, and transforming growth factor-?1, as a marker of liver fibrosis, in 16 patients (6 males and 10 females, 2.5-15 years old) who received living-related liver transplantation due to inherited metabolic diseases (n=6; in the form of propionic acidemia [n=1], methylmalonic acidemia [n=1], @DISEASE$ [n=1], tyrosinemia [n=2], and glycogen storage disease type 1b [n=1], with an age range of 2.4-14.6 years old) and due to @PHENOTYPICFEATURE$ ([n=10], with an age range of 2.9-14.5 years old).	false
+48f08890efe5a51a3e45475b68981c31175ffc2d	Patient 2 (@DISEASE$), a 17-yr-old boy, had only @PHENOTYPICFEATURE$ and language developmental delay.	false
+815c40749ef9a1455cb1c38d7815af89bdce095f	Speech delay, @PHENOTYPICFEATURE$, and behavioral disturbances are the main clinical manifestations of @DISEASE$.	false
+19c386051f8ba93ef5bd56addb8a82decc8bc0b0	The reciprocal duplication of this region results in another genomic disorder, @DISEASE$ (PTLS; OMIM 610883), characterized by autism, @PHENOTYPICFEATURE$, and congenital anomalies.	false
+05df4eb3aa2ba858c8796f82435267555606e24a	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, @PHENOTYPICFEATURE$, and behavior abnormalities, the latter of which can include autism spectrum disorder.	false
+16bfef8dc0bcc0723ac96495b14170a6254dd759	@DISEASE$ (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, @PHENOTYPICFEATURE$ and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2.	false
+d7c210052237b7ad3b6a47ef8760ece0ed271090	@DISEASE$ chiasm glioma associated with inappropriate secretion of antidiuretic hormone, cerebral ischemia, nonobstructive @PHENOTYPICFEATURE$ and chronic ascites following ventriculoperitoneal shunting.	false
+06f5386d49a71b5f13d2e54282d27b8c07788158	Two of the children with precocious puberty had hypothalamic hamartomas, one had an @DISEASE$ glioma, and one had a history of @PHENOTYPICFEATURE$.	false
+b598e94628d621b8f426c0f80d84d482bcf3e2ea	@DISEASE$ chiasm glioma, electrolyte abnormalities, nonobstructive @PHENOTYPICFEATURE$ and ascites.	false
+ac8ff1fcb377ef5b0216fc915a9257902209bec7	He had low-set slightly malformed ears, deeply-set malformed eyes, small palpebral fissures, @PHENOTYPICFEATURE$, developmental delay and unilateral @DISEASE$ hypoplasia.	false
+cce28c32372ef3cca70cb60aa588e8a753b575b0	A 4-year-old girl with @DISEASE$ chiasm glioma (OCG), nonobstructive @PHENOTYPICFEATURE$ and ventriculoperitoneal shunt is described, in whom marked ascites developed.	false
+18d442d0f4b201d5e2dc425bc850fa42a7e56d1c	To report the results of the first known cochlear implantation in a patient with @PHENOTYPICFEATURE$-dystonia-@DISEASE$ neuronopathy (DDON) syndrome (Mohr-Tranebaerg syndrome, DFN-1).	false
+a79ee79c5afc22c4943ce64a54aa77531a9cc079	These were @DISEASE$ glioma or astrocytoma (n = 45), @PHENOTYPICFEATURE$ (n = 22), hypothalamic hamartoma (n = 15), suprasellar arachnoid cyst (n = 10) and others (n = 8).	false
+c8e1dc3a6e54fe0c8f52e0738f15391b0e876ba4	Cochlear implantation in @PHENOTYPICFEATURE$-dystonia-@DISEASE$ neuronopathy (DDON) syndrome.	false
+445164f80e00c148dbc8c2b322447bda9e1cdacb	Anterior @DISEASE$ ischaemic neuritis was significantly associated with @PHENOTYPICFEATURE$, overweight, and diabetes.	false
+2ebd64c4b972208f7c8c1543d90e818fea123eb3	The @DISEASE$ type I (ADO-I) is defined by the presence of osteosclerosis involving mainly the skull bones, variably associated with compression of the foramina of cranial nerves and vascular structures, hypertelorism, exophthalmos, and less commonly with @PHENOTYPICFEATURE$, pseudotumor, and Chiari malformation type I.	false
+87ff5c9ac46e4090469545ff0204334ca920da25	The @DISEASE$ type I (ADO-I) is defined by the presence of osteosclerosis involving mainly the skull bones, variably associated with compression of the foramina of cranial nerves and vascular structures, @PHENOTYPICFEATURE$, exophthalmos, and less commonly with hydrocephalus, pseudotumor, and Chiari malformation type I.	false
+69039b74bfeaf7cecd40d807cac08d737b39b581	These observations may have important implications for the mechanism of action of agonistic anti-CD40 antibodies, which have been used as an adjuvant in models of infection and experimental @PHENOTYPICFEATURE$ and the primary immunodeficiency @DISEASE$ caused by deficiency of CD40 ligand.	false
+9eed6ef882a3cb2007fd118c5331b47d9da920fd	CD40L knockout mice, monoclonal antibodies, and several molecular methods were used to identify mutations in CD40L as the genetic basis for @DISEASE$ in humans, to provide new insights into the pathobiology of Pneumocystis carinii infection, and to evaluate CD40L for immunotherapy of @PHENOTYPICFEATURE$ and opportunistic infections.	false
+20a18ccdcceaae9bda3454372521deb737bf151c	A systematic review identified seven possible risk factors for epilepsy in @DISEASE$ patients: hippocampal volume reduction, infarct on prenatal ultrasound, a modified Alberta Stroke Program Early Computed Tomography score ?9, family history of seizures, cerebral palsy, and initial presentation with @PHENOTYPICFEATURE$ or seizures.	false
+5c6e2def9bbcc9b60d61ae6d560ac85dc4306783	Of the 39 children 8 (21%) had 17beta-hydroxysteroid dehydrogenase deficiency, 2 (5%) had 3beta-hydroxysteroid dehydrogenase deficiency, 8 (21%) had 5alpha-reductase deficiency, 2 (5%) had @PHENOTYPICFEATURE$, 1 (2.6%) was a true hermaphrodite, 1 (2.6%) had Klinefelter's syndrome, 1 (2.6%) had @DISEASE$ and 16 (41%) had idiopathic male pseudohermaphroditism.	false
+a6b42ef989e2162ee595dded6facd3e837845af3	The diagnoses in this group consisted of micropenis (4), @DISEASE$ (2) and @PHENOTYPICFEATURE$ (2).	false
+1cd85e092502bdffffd482ec16a54d82590d1aeb	Most participants were confirmed or presumed to be affected by @DISEASE$ (n = 14), partial @PHENOTYPICFEATURE$ (n = 11), or were considered to have a poorly defined case of 46,XY DSD including ambiguous external genitalia (n = 15).	false
+d043f7dd82cac1b40fd4d005f10e92f987c94619	Among the patients recruited in our study, 48 patients (47.1%) were diagnosed with complete/@DISEASE$ (CAIS/PAIS) (46XY), 33 cases (32.4%) with gonadal dysgenesis (46XY) and the remaining subjects (20.1%) with @PHENOTYPICFEATURE$ (with sex chromosome structural abnormalities).	false
+997c23b0479e67ac2f7f698d21b0ac69d88ab12b	Of 11 patients with 46 XY DSD, three were diagnosed with 5 alpha reductase deficiency (5aRD), two with partial @PHENOTYPICFEATURE$, three with @DISEASE$, one each with ovotesticular, complete gonadal dysgenesis, and complete androgen insensitivity.	false
+6eaf866767980cb9006c373b78a6225ff95c7010	Diagnoses (age at gonadectomy) for patients with GCs included ovotesticular DSD (13 months), mixed gonadal dysgenesis (17 months), partial gonadal dysgenesis (3 years), @DISEASE$ (11 years), and @PHENOTYPICFEATURE$ (12 years).	false
+f0c1831c5765f18431c6cd3ac035e35366fadf9a	Diagnoses (age at gonadectomy) for patients with GCs included ovotesticular DSD (13 months), @PHENOTYPICFEATURE$ (17 months), partial gonadal dysgenesis (3 years), @DISEASE$ (11 years), and mixed gonadal dysgenesis (12 years).	false
+cf66d3625ed1aab008dd9711bf650294443a8b45	Diagnoses (age at gonadectomy) for patients with GCs included ovotesticular DSD (13 months), mixed gonadal dysgenesis (17 months), partial @PHENOTYPICFEATURE$ (3 years), @DISEASE$ (11 years), and mixed gonadal dysgenesis (12 years).	false
+143d34f6c7953c2b26f05e78fc166b72938e8772	The cause underlying genital ambiguity of participants included @DISEASE$ (n = 14; 5 men and 9 women), partial @PHENOTYPICFEATURE$ (n = 11; 7 men and 4 women), and other intersex conditions.	false
+0603b1a198398b82e59cf9caa3c66f9e25736fba	The incidence of gonadal malignancy in patients with complete androgen insensitivity syndrome (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY @PHENOTYPICFEATURE$, 17?-hydroxylase/17, 20-lyase deficiency and @DISEASE$ (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively.	false
+27502481d4082aea1a7c10370a498837f76817b9	This gene was recently implicated in the @DISEASE$, a rare neurological disorder which may either present in infancy with neurological deterioration with hypotonia, respiratory insufficiency and early death, or later in life with @PHENOTYPICFEATURE$ and progressive ponto-bulbar palsy.	false
+43a4ad2458f35450e55dd3cc8a6a505bf5417062	@DISEASE$, a ponto-bulbar palsy with @PHENOTYPICFEATURE$, is caused by mutations in c20orf54.	false
+855cf4944cf1a038cd041ee8a9a166fc47f39603	Ponto-bulbar palsy with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+4d21beb3e064032440b404d260dc21793ef94eb5	A case of a young man (36 years old) suffering from a progressive bulbo-pontine palsy, bilateral central @PHENOTYPICFEATURE$ and respiratory failure, clinically known as @DISEASE$ (BVVL) is reported.	false
+ffeceee2f54a89fa62c611dccd37088b320c38f7	@DISEASE$ (BVVLS) is a rare type of motor neuron disease, characterized by bilateral @PHENOTYPICFEATURE$, and multiple cranial nerve involvement.	false
+453839dab7d081f397bb5558815171ff8c3ace8f	Pontobulbar palsy and neurosensory @PHENOTYPICFEATURE$ (@DISEASE$) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings.	false
+f74add7133c606be073e4c76052f3c3ba5a3f1a6	Protracted disease course after @PHENOTYPICFEATURE$ in a man with @DISEASE$.	false
+4ede5f7686b9a29da3490c8c4d041b387d384f78	@DISEASE$ is a rare hereditary or sporadic degenerative disorder characterised by progressive sensoryneural @PHENOTYPICFEATURE$, followed or accompanied by cranial nerve palsies.	false
+5cebbcd863b0536fc130b7c7c58df4346d910705	These clinical features are consistent with the @DISEASE$, a rare, sometimes inherited progressive ponto-bulbar neuronopathy with associated @PHENOTYPICFEATURE$.	false
+91ec2d266516d19d44444e606e1d6981da965eef	Supplementation of riboflavin rapidly improved the clinical symptoms as well as the biochemical abnormalities in our patients, demonstrating that high dose riboflavin is a potential treatment for the Brown-Vialetto-Van Laere syndrome as well as for the @DISEASE$ which is considered to be the same disease entity without the @PHENOTYPICFEATURE$.	false
+f0637486238fda8bea78698b422f7bef2e3439a9	Supplementation of riboflavin rapidly improved the clinical symptoms as well as the biochemical abnormalities in our patients, demonstrating that high dose riboflavin is a potential treatment for the @DISEASE$ as well as for the Fazio Londe syndrome which is considered to be the same disease entity without the @PHENOTYPICFEATURE$.	false
+7e1283bada418ab5e9c4622ed4a7138798461310	Multiple endocrine neoplasia (@DISEASE$)-associated @PHENOTYPICFEATURE$.	false
+c3f3534db1a4aa2fe58b249724634d8c32f9971f	@DISEASE$ (MEN)-associated @PHENOTYPICFEATURE$.	false
+fd930f7ec228599543bbb23f561b718696bd276e	@DISEASE$ @PHENOTYPICFEATURE$ with extracerebral metastases.	false
+abe6205c805476416b72f48f2b21a64688a8fcca	[Benign @DISEASE$ melanic @PHENOTYPICFEATURE$.	false
+13229cc29d45cb4d7b06187dc24786a09f29586d	[Melanotic @DISEASE$ supratentorial @PHENOTYPICFEATURE$].	false
+5d5c4cc37b5ad9ffa8a5d24715571a601a4e4e76	They may result in meningitis, cerebritis, abscess formation, cryptococcoma, and @DISEASE$ @PHENOTYPICFEATURE$ with rapid disease progression and often overlapping symptoms.	false
+148a9ee588045407922fa5d9c6a9df602121f642	Paediatric @DISEASE$ @PHENOTYPICFEATURE$.	false
+213919fd8a1dce5e03489dae0d979b0b443dfb9a	Histological review of the @DISEASE$ @PHENOTYPICFEATURE$ confirmed the diagnosis of meningeal HPC.	false
+8628af0fafee4ff5f3199f70f3fad16acf4da905	Histological review of the meningeal @PHENOTYPICFEATURE$ confirmed the diagnosis of @DISEASE$ HPC.	false
+17ddf2a8c90f6a13174ce7db3e5439c5418d53bf	Meningeal hemangiopericytomas (MHP) account for 2% of @DISEASE$ @PHENOTYPICFEATURE$.	false
+a7bfa09c55c0dc1db48b455f03b1e247ea4f6f5a	@DISEASE$ hemangiopericytomas (MHP) account for 2% of meningeal @PHENOTYPICFEATURE$.	false
+c81e566dcd6bc013ed0e3528fb20865256aa9f3e	Metastasising @DISEASE$ @PHENOTYPICFEATURE$: case report.	false
+c543311a3a9d0af40ae7a4b2481615e7fcccff9b	@DISEASE$ melanocytomas are rare @PHENOTYPICFEATURE$.	false
+5e870d76f590ac41c520f62ef8ae7d68c5dbae92	We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete @PHENOTYPICFEATURE$ and @DISEASE$ (WDSTS).	false
+19ae82b5a41a870e3b76d1ebfa501cf9470d3c5e	We report on a 28-year old patient with @DISEASE$ (PCOS) who presented with @PHENOTYPICFEATURE$ and laboratory markers of inflammation.	false
+c5f781c86cc64dc8117bd44f9480b7117d1294b1	In addition, @PHENOTYPICFEATURE$ in children and adults, premature adrenarche, and the @DISEASE$ (PCOS) are endocrinological sequelae of IUGR.	false
+d86c3e8894a6aab22dea9397db530e13e4923c6b	Prevalence of non-alcoholic fatty liver disease in patients with diabetes mellitus, @PHENOTYPICFEATURE$, obesity and @DISEASE$: A cross-sectional study in north of Iran.	false
+77783979c2264b7e78c55ef3049420cf753cb182	Polycystic ovarian syndrome (@DISEASE$) is associated with an increase in cardiovascular (CV) risk factors such as insulin resistance, with accompanying hyperinsulinemia and @PHENOTYPICFEATURE$, which are predisposing factors for type 2 diabetes mellitus and CV disease.	false
+70b618feca022494663cc4bcc8d98592ea193203	@DISEASE$ (PCOS) is associated with an increase in cardiovascular (CV) risk factors such as insulin resistance, with accompanying hyperinsulinemia and @PHENOTYPICFEATURE$, which are predisposing factors for type 2 diabetes mellitus and CV disease.	false
+3d6b9a8d4550e3348aecf913abb6ec2c3bc4c1f9	Candidates for drug therapy often include those with familial hypercholesterolemia, familial combined @PHENOTYPICFEATURE$, the metabolic syndrome, @DISEASE$, type 1 diabetes, and the nephrotic syndrome.	false
+6e07ab766ae5dfaa618f55c5674b1e41249c66bd	Other diseases have a spontaneous favourable course such as myopia, idiopathic infertility, @DISEASE$ or @PHENOTYPICFEATURE$.	false
+edcafc264d0f4a87a86fa41189586e1a2e281d6f	Obese women are at increased risk of developing Type 2 Diabetes, cardiovascular diseases, @PHENOTYPICFEATURE$, rectal carcinoma and gynecological problems including sub fertility, menstrual dysfunction and @DISEASE$.	false
+790f022aad3d04112d1ced8616694a1cab2db5cf	These include glucose intolerance and type 2 diabetes mellitus, @PHENOTYPICFEATURE$, fatty liver disease, and reproductive complications, such as @DISEASE$.	false
+6dd67ebfc8c0eb4bce4ce1a80e26deed2b9be7a6	Patients have @PHENOTYPICFEATURE$; boys have hypogonadotropic hypogonadism and girls have @DISEASE$ (PCOS).	false
+ec20176ee12ed136048ba4c52f133ce1c1fe10a5	The most common presenting comorbidities included hypertension (67.3%), @DISEASE$ (43.5%), and @PHENOTYPICFEATURE$ (41.5%).	false
+68d902ae6bfb25c0531addc5fc67c175d46e45da	Clinical picture of @DISEASE$ "@PHENOTYPICFEATURE$ submandibularis".	false
+aadaeb274a515b376f642d91cb8b0cf9eef8e02e	In terms of long-term treatment effects, @PHENOTYPICFEATURE$ and chronic graft-versus host disease (@DISEASE$) are problems.	false
+54ee70e1ad2a0d80678bb62b4d535dc8eb3a34af	@PHENOTYPICFEATURE$ foot blistering is a common problem in patients with epidermolysis bullosa simplex (@DISEASE$) and pachyonychia congenita (PC).	false
+ea282f297bf4d66e476aeec64382c1a68830dd40	A case of mitochondrial myopathy, @PHENOTYPICFEATURE$ and lactic acidosis due to @DISEASE$ with neurogenic muscular changes.	false
+b1cebe8f0e8624dfaf42b0ac8fcf9cc43737845e	We describe respiratory chain complex IV deficiency (@DISEASE$) in a female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, @PHENOTYPICFEATURE$, persistent lactic acidosis, and hypertrophic cardiomyopathy.	false
+bf22226fd51d869a7201f00dd55622e33f2e5741	The present review discusses the pathophysiological role of mast cells in different diseases, including atherosclerosis, pulmonary @PHENOTYPICFEATURE$, ischemia-reperfusion injury, male infertility, autoimmune disorders such as rheumatoid arthritis and multiple sclerosis, @DISEASE$ (interstitial cystitis), anxiety, Alzheimer's disease, nociception, obesity and diabetes mellitus.	false
+58eab439c37e0ca396febda840587e6f856300de	Dystonias with known genes include DYT1 and @DISEASE$ dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of @PHENOTYPICFEATURE$.	false
+6a159a7d0bcc2455b1a5347a8a15fc5230b63a7d	Thanatos-associated [THAP] domain-containing apoptosis-associated protein 1 (THAP1) is a DNA-binding protein that has been recently associated with @DISEASE$ dystonia, a hereditary @PHENOTYPICFEATURE$ involving sustained, involuntary muscle contractions.	false
+871b92ea73348432c4f908705a647fc37abccdb8	@DISEASE$ with segmental @PHENOTYPICFEATURE$.	false
+f520e8b821509e13cced0ec83f8c08b95a2879b9	We present a 37-year-old female patient diagnosed with unilateral @PHENOTYPICFEATURE$ coincident with @DISEASE$ because of this unusual presentation.	false
+971121e01c1e5cf53103421dc59e545940639867	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), @DISEASE$ with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and @PHENOTYPICFEATURE$ predisposition.	false
+db75d0fc0fee0e630e9ca2ebe0bd9dfa385508df	@PHENOTYPICFEATURE$ and hypopituitarism in a patient with @DISEASE$ with loose anagen hair-1.	false
+89ba2f90c44f742afaa70c5c033407e00c01a91d	Progressive cone degeneration in age-related macular degeneration, @DISEASE$, and recessive cone dystrophies is a major cause of @PHENOTYPICFEATURE$.	false
+c24dbc81c69a168346987d132b7cf7e93f35901c	Hundreds of mutations in ABCA4 are known to cause impaired vision and @PHENOTYPICFEATURE$ such as in @DISEASE$ as well as related disorders.	false
+aaba5d6fa1ff0b262a689e54e2c13850aef3c86d	Two important early potential hESC applications are the use of retinal pigment epithelium (RPE) for the treatment of age-related macular degeneration and @DISEASE$, an untreatable form of macular dystrophy that leads to early-onset @PHENOTYPICFEATURE$.	false
+ea8e3c6ab2aa23b61b53cedea4f5f4aa0f5271fc	These observations are discussed in connection with recent studies linking the @DISEASE$ and epithelial hepatic @PHENOTYPICFEATURE$.	false
+36c06266aeff8180a66ebeaa79d2fc18299f603a	Therefore, the therapeutic goal of SERMs is the prevention of estrogen @DISEASE$ without promoting estrogen-associated @PHENOTYPICFEATURE$ growth.	false
+6fa9f353afc30a95379750735ed323111de6bebb	The description of agammaglobulinemia by O. Bruton in 1952 and later clinical studies by R. Good preceeded by sporadic clinical observations on deficits in the immune function associated with hyponutrition, nephrosis and @PHENOTYPICFEATURE$ or with inborn errors of metabolism have all made their contribution to the emerging of the concept of immunological @DISEASE$.	false
+a16751a2672ea66dc95afba72e2da8f552722cad	@DISEASE$ (SCA14) is an autosomal dominant neurodegenerative disease characterized by various symptoms including @PHENOTYPICFEATURE$.	false
+1f81d5debb468165df20658a6a4eafe62e924f82	@DISEASE$ (SCA14) is an autosomal dominant neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and intermittent axial myoclonus.	false
+58f320d5a93a590685761def50754dae699163eb	Identification of a new family of @DISEASE$ in the Japanese spinocerebellar @PHENOTYPICFEATURE$ population by the screening of PRKCG exon 4.	false
+f2e1571860d91b3591f938808ec0201df27d6536	@DISEASE$ (SCA14) is an autosomal dominant hereditary @PHENOTYPICFEATURE$ characterized by a relatively pure cerebellar phenotype.	false
+5794137978a03c70a58d60cf86fa3e46ba5c3780	We previously discovered @DISEASE$ (SCA14) in a single Japanese family with an autosomal dominant neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ and intermittent axial myoclonus.	false
+dfd5d08a98894df6f82eaba60a791c0fc4136940	@DISEASE$ (SCA14) is an autosomal-dominant @PHENOTYPICFEATURE$ caused by point mutations of the Protein Kinase C Gamma gene.	false
+667bec5ec41e6c17150ae84eaa4ca432e1af3d76	@DISEASE$ (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia with myoclonus, dystonia, @PHENOTYPICFEATURE$, and rigidity.	false
+d477bd9e26d6891ee8c2e536e77453f8bba59053	@DISEASE$ (SCA14) is an autosomal dominant neurodegenerative disorder characterized by @PHENOTYPICFEATURE$ with myoclonus, dystonia, spasticity, and rigidity.	false
+59d54cb56227dc32d9eebe1b1a4ffcf2d41ed732	@DISEASE$: opening a new door in dominant @PHENOTYPICFEATURE$ research?	false
+1074227a65cb5d64b7626b9dc828f12aec6fd8e0	Cases included simulated hand-@DISEASE$ vibration syndrome, occupational asthma, @PHENOTYPICFEATURE$ and weakness of a limb.	false
+e96c0ae6cf4fc16598c564e0dca685befce2c538	We present a case of acute systolic @PHENOTYPICFEATURE$ in a patient post-doxorubicin chemotherapy and radiation therapy for @DISEASE$, found to have severe hypothyroidism as a reversible cause of cardiomyopathy.	false
+40e7f5a645164f8a5fde11c2991a470cf1111e78	Participants (n = 22) at baseline had mean (SD) age 43 (14) years, duration of diabetes 26 (13) years, A1c 8.0% (0.87) and 21/22 had reduced @PHENOTYPICFEATURE$ awareness @DISEASE$ Clarke Hypoglycemia Unawareness survey scores; 13 (59%) were "CGM completers" (CGM data available at baseline and follow-up).	false
+65073a3b7df1b034a93d44ed6f085eb8af9fd2a6	Participants (n = 22) at baseline had mean (SD) age 43 (14) years, duration of diabetes 26 (13) years, A1c 8.0% (0.87) and 21/22 had reduced hypoglycemia awareness @DISEASE$ Clarke @PHENOTYPICFEATURE$ Unawareness survey scores; 13 (59%) were "CGM completers" (CGM data available at baseline and follow-up).	false
+247c893783a2c868dc305d9df127491c72a2cb8a	@DISEASE$-hypopnea syndrome (OSAHS) and @PHENOTYPICFEATURE$ optic neuropathy.	false
+1dfd5399a225a9e5fb45eb3ae1070f23c2d675f9	@DISEASE$-hypopnea (OSAH) is associated with sleep fragmentation and nocturnal @PHENOTYPICFEATURE$.	false
+5898d968eb43b0cb13200cfe6b437e1b990117ff	@DISEASE$ (OSAS) is characterized by prolonged, generally partial, upper airway obstruction associated with @PHENOTYPICFEATURE$ and/or hypercapnia.	false
+83b1d8de52dac8c70ac9febc26f28d7516fc60bf	@DISEASE$ (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, @PHENOTYPICFEATURE$ during sleep, and daytime hypersomnolence.	false
+838956abd85b1417f73402c5cfd593d338831a09	@DISEASE$ (OSAS) is characterized by cyclic episodes of @PHENOTYPICFEATURE$ and reoxygenation.	false
+34d9ab887472b695bbe064d1627785a0c37c81f3	@PHENOTYPICFEATURE$ and decreased intrathoracic pressure have been postulated as contributing causes of cardiovascular morbidity in @DISEASE$ (OSAS).	false
+50d258d2832de58ed2624f39784628431c1ae719	Despite severe @PHENOTYPICFEATURE$ during sleep, patients with @DISEASE$-hypopnea syndrome (OSAHS) rarely die during sleep.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+ccb2e2c811f69a011fd8280dcd3ad2cca72e0609	@DISEASE$-hypoapnea syndrome (OSA) is a disorder that results in repetitive occlusion of the airway and @PHENOTYPICFEATURE$ during sleep.	false
+e82c9e6907727aa6b9ab60d2eab2777a34db22ee	To explore the relationship between sleep respiratory events and @PHENOTYPICFEATURE$ following @DISEASE$-hypopnea syndrome (OSAHS) and its clinical significance.	false
+ef414158df3cf3019ffc629700c3d07faffc7b52	Other diagnoses included diabetic neuropathy, central @DISEASE$, phantom pain, spinal cord injury, fibromyalgia, rheumatoid arthritis, @PHENOTYPICFEATURE$ neuropathy, visceral pain, and malignant pain.	false
+8ff511e81cd593cf00e597385dc0e67b07f805de	Most of these patients had minimal signs of inflammation but high levels of fatigue, pain catastrophizing, and @PHENOTYPICFEATURE$, indicative of a chronic widespread @DISEASE$.	false
+d1e61336dd937d9bfdea539e0b05571ff2d136bd	Differentiated therapies were administered for ailments such as acute anxiety states, erethism, hyperkinetic syndrome, enuresis, migraine, @PHENOTYPICFEATURE$, epilepsy, Sydenham?s chorea, spasticity, neuralgia, neuritis, dizziness, @DISEASE$, tetany, and syphilis.	false
+0f43a12ad10d01e92ee65c441e47d876b777e03b	Previously @PHENOTYPICFEATURE$ signs have been reported in inflammatory chronic diseases but the presence of neuropathic @DISEASE$ (NPS) in Behcet's disease (BD) is unclear.	false
+3adfe84c7fbc26386eda9da495cceabef4bd643a	Paclitaxel can cause an acute @DISEASE$ (P-APS), considered to be an acute form of neuropathy and chronic chemotherapy-induced @PHENOTYPICFEATURE$ (CIPN).	false
+d2d890e4d535ca8a757ac1716a100cf43403a878	Clinically, neuropathic pain is described as the pain in the peripheral nerve (cranial nerves, other mononeuropathies, radiculopathy, plexopathy, paraneoplastic @PHENOTYPICFEATURE$) and relatively infrequent, central @DISEASE$.	false
+eadc9216c0889339aa66b18a5511d6e51cec97b2	Paclitaxel is associated with both an acute @DISEASE$ (P-APS) and chronic chemotherapy-induced @PHENOTYPICFEATURE$ (CIPN).	false
+5685c97950e3fa64087a076f89a5999ec0d714ca	Further data supporting that paclitaxel-associated acute @DISEASE$ is associated with development of @PHENOTYPICFEATURE$: North Central Cancer Treatment Group trial N08C1.	false
+bf03d6390d4f038f99b87d9cf3f90bc04793fd35	Painful diabetic @PHENOTYPICFEATURE$ is a challenging neuropathic @DISEASE$.	false
+c648a33408a6939ac6aa66c3977b294c0f109aae	Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, @PHENOTYPICFEATURE$, sleep apnea, restless legs syndrome, central @DISEASE$, neuropathy and neuropsychiatric alterations has been described.	false
+7ca03381dec6dd7b6cea192b1f2f0c422ed7fcae	We report the first case of SMS-associated autoimmunity in a woman who presented with adult onset of multiple autoimmune disorders, including @PHENOTYPICFEATURE$, antiphospholipid antibody syndrome, and @DISEASE$.	false
+25e452c64425cbc1e44fb49223b84142221b0f3c	We utilized data from a large, nationally-representative cohort of older adults in the United States and found that PCNSL is significantly associated with @PHENOTYPICFEATURE$, polyarteritis nodusa, @DISEASE$, myasthenia gravis and uveitis.	false
+0cfac66532999e1f16ee77d21462f8c8f7224de3	To survey side-effects of azathioprine after liver or renal transplantation, for @PHENOTYPICFEATURE$, Wegener's granulomatosis, @DISEASE$, rheumatoid arthritis, ulcerative colitis or Crohn's disease.	false
+12ae9222f2e661fc4483b680e8d5d285f4bdcbcf	Three patients had ethyltoxic cirrhosis; 2 patients, @PHENOTYPICFEATURE$ C; 1 patient, hepatitis B; and 1 patient, @DISEASE$ cirrhosis.	false
+fe0cbc98230bfcb91544ab972912b373df2d6d1f	@PHENOTYPICFEATURE$ C, @DISEASE$, unexplained severe course of hepatitis B, differentiation of simple steatosis from steatohepatitis, the differential diagnosis of cholestatic diseases, unclear hepatopathy, transplant pathology and last but not least, hepatic masses are the focal points of liver biopsy diagnoses.	false
+86a95ef5e8040da6540187e27879a4ce54e7b1a1	Plasma cell @PHENOTYPICFEATURE$ (PCH) is characterized by plasma cell infiltration seen in allografts of patients who underwent liver transplantation (LT) for conditions other than @DISEASE$.	false
+29da85e34ffd565134483e1b1dee9a6bd0615b9f	@PHENOTYPICFEATURE$ C, cirrhosis, @DISEASE$, and inflammatory bowel disease are more prevalent than ever among older adults.	false
+4205ec32efe819dba16fe5656380669589c562a8	Previous findings have suggested that FAS and FASLG polymorphisms are associated with @PHENOTYPICFEATURE$, @DISEASE$, vitiligo and other autoimmune-related disorders.	false
+0230938a29141aa42a1c0f462b5f455629f291db	@PHENOTYPICFEATURE$ C, @DISEASE$, alcoholic liver disease and criptogenic liver disease were present in our cases.	false
+f998cbe7f85e3ba94c73de23ca55082597ece1f2	Conversely, rituximab failed to show an effect for antiphospholipid syndrome, @DISEASE$, IgA nephropathy, inflammatory myositis, primary-progressive multiple sclerosis, @PHENOTYPICFEATURE$, and ulcerative colitis.	false
+367f505ca0f06e77262374d6f0b34a4fc2bed1ab	We describe interesting protocols of BoNT treatment for hyperhidrosis (HH), hypertrophic scars and keloids, Raynaud phenomenon, facial flushing, oily skin, psoriasis, @DISEASE$, and cutaneous lesions like @PHENOTYPICFEATURE$ lesions and periorbital syringomas.	false
+4b3ee2bdd15b0f27adb0bc3be1e75446a7e33424	Ligase @DISEASE$ is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho-reticular malignancies, significant @PHENOTYPICFEATURE$, and radiation hypersensitivity.	false
+881e07855fda6ca520520a88393073bc247cb0b2	The clinical phenotype of Ligase @DISEASE$ (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by @PHENOTYPICFEATURE$, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.	false
+3d73bd60851119969a315ee7856f4ca99712affa	Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, @DISEASE$, @PHENOTYPICFEATURE$, and brain abnormalities.	false
+2b5247c252f264bf02518efc0bde38ba8e1900b2	Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe @PHENOTYPICFEATURE$, @DISEASE$, muscular hypotonia, and brain abnormalities.	false
+5aee2055e23ebe1e437043f3e2cf23fd69d9ea38	@PHENOTYPICFEATURE$ with @DISEASE$ in case of malignant osteopetrosis.	false
+f66d5d1c935ba10f7b99790703b1b9a868878ada	@PHENOTYPICFEATURE$, hypsarrhythmia and @DISEASE$ (PEHO) has been described as a clinically distinct syndrome.	false
+db4819c6cf09da80a1848396cafc08aec0a89c60	A girl suffering from marked muscular hypotonia, severe statomotor and @PHENOTYPICFEATURE$, bilateral @DISEASE$ with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described.	false
+12e9bac0139741d6e4037a9c12e1c7092d9ba56c	A girl suffering from marked @PHENOTYPICFEATURE$, severe statomotor and mental retardation, bilateral @DISEASE$ with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described.	false
+641459cbe745f1ac183e5368ad85e3243b95c3b1	NR2F1 mutations cause @DISEASE$ with @PHENOTYPICFEATURE$.	false
+a176efa3f91f163ada504846606d59aa2468d249	Here, we present two female siblings with arthrogryposis multiplex congenita, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3ca45b6054bc1df51cf933e66a3146f56012414c	The clinical features include progressive gait and limb ataxia, cerebellar @PHENOTYPICFEATURE$, neuropathy, @DISEASE$, and loss of vibration and proprioception.	false
+9c3af5703c0e3cb8c9510d644dcfb0be099fcf50	To identify the underlying genetic cause in a patient with intractable seizures, @DISEASE$, severe intellectual disability (ID), brain abnormalities, and @PHENOTYPICFEATURE$, we performed exome sequencing in a 5-year-old girl and her unaffected parents.	false
+175ff6d7fc073efea83e5ce8ccf57cfd0d9864a7	To identify the underlying genetic cause in a patient with intractable seizures, @DISEASE$, severe @PHENOTYPICFEATURE$ (ID), brain abnormalities, and muscular hypotonia, we performed exome sequencing in a 5-year-old girl and her unaffected parents.	false
+414443ee9061757b27689ed679009488b707a5ff	Early neurological signs were nystagmus, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+adfc5737cba1e3cad07af2ba9a9503fa0e45576d	An older brother had hydrocephaly, bilateral @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9f06bc79cd5870c8d9e7b16267d1cf9684685521	@DISEASE$ (HI) is a neurocutaneous syndrome characterized by @PHENOTYPICFEATURE$ cutaneous lesions and extracutaneous manifestations frequently affecting the nervous system and the musculoskeletal system.	false
+9c0ecbaa2de4f6fbed8b80284468f7ca1c873f9a	@DISEASE$ is an uncommon syndrome where bizarre, systematized @PHENOTYPICFEATURE$ is often associated with neurological and other non-cutaneous abnormalities.	false
+ee199fe7cb40c86df9334023d8edd12b687df9ff	@DISEASE$ is an uncommonly reported neurocutaneous syndrome with a peculiar pattern of swirling @PHENOTYPICFEATURE$.	false
+7cf31e73e7277692cf6038e56706b92d436a789d	A 45-year-old man with untreated @DISEASE$ due to 21-hydroxylase deficiency presented with increasing abdominal girth and @PHENOTYPICFEATURE$.	false
+00345bdb9549ad20bd97f4f9c60e7a44351c08f0	Congenital adrenal hyperplasia (@DISEASE$), another autosomal recessive condition, may present in the neonatal period with @PHENOTYPICFEATURE$, hypovolaemia, failure to gain weight or ambiguous genitalia.	false
+2e5fd4551fd5e5adc170475be3112f159f2ad125	What is New: ? Children with @DISEASE$ may have lower intelligent quotient (IQ) and @PHENOTYPICFEATURE$.	false
+27773378a09254aee87724207942008edca606e2	Taking into account the presence of @DISEASE$ and a typical sonographic appearance of bilateral testicular masses, a diagnosis of @PHENOTYPICFEATURE$ was made; biopsy was deferred and hormonal treatment was modified.	false
+5a3282071a2296220c4a95c995a40c657bfbeeec	@PHENOTYPICFEATURE$ (TARTs) are benign testicular masses that are found in inadequately treated patients with congenital adrenal hyperplasia (@DISEASE$).	false
+55aaf706a4ad6989352fb580d54fa5acc0246fc3	The disorders were male pseudo hermaphrodite (MPH)-43, @PHENOTYPICFEATURE$ (MGD)-3, true hermaphrodite (TH)-7 and congenital adrenal hyperplasia (@DISEASE$)-7.	false
+3edc0e6b5377bb7836f7b35cbea1e27460d3d796	Some patients who present with @PHENOTYPICFEATURE$ and poor sucking, who have hyponatremia and hyperpotassemia and are initially diagnosed as @DISEASE$, during follow-up, are found to suffer from pseudohypoaldosteronism (PHA).	false
+9ca50346de93d6754ff5209e88fb8b58de548d4c	Rarely, patients with severe, salt-wasting @DISEASE$ have deletions of CYP21A2 that extend into TNXB, resulting in a "@PHENOTYPICFEATURE$" consisting of CAH and EDS.	false
+5d071dd2ef5df8fa488f2d8eab82851e9bd04bda	Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "@PHENOTYPICFEATURE$" consisting of @DISEASE$ and EDS.	false
+08db422aa1a3806ae61a0182c20b6d84a425d1eb	Although the etiologies of true hermaphroditism and @PHENOTYPICFEATURE$ remain elusive, most gene defects in female pseudohermaphroditism or @DISEASE$ have been pinpointed to the 21-hydroxylase gene.	false
+d15efc524ef191e01ce39ae7446f2cf038201382	The differential diagnosis of @PHENOTYPICFEATURE$ and dehydration in the first month of life includes congenital adrenal hyperplasia (@DISEASE$) and pyloric stenosis (PS).	false
+bfea15f53a9ce5f32289fac340ca0eb7a29abfa2	To the best of our knowledge, the current study is the first to examine the effects of two emotion regulation strategies, cognitive distraction and rumination, on both self-reported sadness and respiratory sinus @PHENOTYPICFEATURE$ (RSA) in individuals with @DISEASE$ and healthy controls (CTLs).	false
+c4392c41a7d6f71cc5bc6aecef6cec5275693026	Type III ACC, @DISEASE$, consists of a scalp defect associated with a distal @PHENOTYPICFEATURE$.	false
+b3616b36a2c9e641a4aab1b1d9cd396ae3bfc1c4	@DISEASE$ is a rare congenital disorder that includes congenital scalp and skull defects, variable degrees of terminal transverse @PHENOTYPICFEATURE$, and cardiac malformations.	false
+2658439d65573083fd2f838b944cb0dba3bc2ed4	@DISEASE$ is a rare disorder with varying degrees of scalp and cranial bone defects as well as @PHENOTYPICFEATURE$, which can range from mild to more pronounced manifestations.	false
+38104a90580a5b30ed22eb004dc94f80186fa4f1	Congenital scalp skull defects with distal @PHENOTYPICFEATURE$ (@DISEASE$--McKusick 10030): further suggestion of autosomal recessive inheritance.	false
+23417b8c6f7043fdaf9f05f3fbf4d9e45331d15d	Congenital scalp and skull defects with terminal transverse @PHENOTYPICFEATURE$ (@DISEASE$): report of three additional cases.	false
+e6672fb0770b3538991ea92e910aaf9dc6b3c8ea	Septo-optic dysplasia, @PHENOTYPICFEATURE$ and cutis aplasia: further evidence for overlap between Pagon and @DISEASE$.	false
+650ae55e90a833de1088d2d71ca129d32e9588c2	These findings show dysfunctional resting-state connectivities of the right STG and MTG with decreased gray matter volume in adolescents with AOS, suggesting that @PHENOTYPICFEATURE$ may be present in @DISEASE$.	false
+5564759c38f1921de926854bd550f974ae556083	These findings show dysfunctional resting-state connectivities of the right STG and MTG with decreased gray matter volume in adolescents with @DISEASE$, suggesting that @PHENOTYPICFEATURE$ may be present in AOS.	false
+32bae2f6cb1db741cc73e49a25bd9df9383e4def	Aplasia cutis is one of the features of the @DISEASE$, beside @PHENOTYPICFEATURE$.	false
+76f1ceafbb9cf947f2c220af554bbd0f1a27a040	@DISEASE$ is characterized by the combination of aplasia cutis congenita and @PHENOTYPICFEATURE$.	false
+8132bfaa192a459c26eda83220bbebfb9d3b5469	Peripheral @PHENOTYPICFEATURE$ and ACC are major elements of the @DISEASE$, which is usually inherited as an autosomal dominant disorder.	false
+4808b5517eadccaf62a50fef9e640a9514b34581	SMRP concentrations were higher in @DISEASE$ patients than in benign @PHENOTYPICFEATURE$ patients and healthy volunteers, and SMRP levels were shown to decrease in EOC patients after surgery.	false
+6a1599fb827853d9a368da213df9506713beeff1	SMRP concentrations were higher in EOC patients than in benign @PHENOTYPICFEATURE$ patients and healthy volunteers, and SMRP levels were shown to decrease in @DISEASE$ patients after surgery.	false
+7fcbc6f765466e6d18fefe7a72f0a9316b59b2e3	@DISEASE$ @PHENOTYPICFEATURE$ had BRCA1/2 mutations.	false
+1d7c47a3db2823070e68c58eadb85a46377679ba	Fresh frozen @PHENOTYPICFEATURE$ tissue was obtained from @DISEASE$ patients.	false
+db330c206d99592fab984c2e9a95a65b1a313cc9	HOXD-AS1 was found to be significantly over-expressed in @DISEASE$ @PHENOTYPICFEATURE$.	false
+9d179f2fad1187db4d81fb9bb08b7ecc3f9b9b9e	Eighteen patients with @DISEASE$ and 14 patients with LMP @PHENOTYPICFEATURE$ were enrolled on study.	false
+624312804e05ed4004cae9e1ceb1c3ab0df31f83	This study explores changes in chemoresponse between paired primary and recurrent @DISEASE$ @PHENOTYPICFEATURE$.	false
+86428bd928d77c5e90200bef96ab830e09481995	Accordingly, PLEKHA7 levels are lower in high grade EOC patient @PHENOTYPICFEATURE$ and @DISEASE$ patients with better outcomes display higher PLEKHA7 levels.	false
+0344876e7a7dd8570efea03e5ee6a8db81c9e3af	Accordingly, PLEKHA7 levels are lower in high grade @DISEASE$ patient @PHENOTYPICFEATURE$ and EOC patients with better outcomes display higher PLEKHA7 levels.	false
+31f417332adadf5924965033b87de4342617158b	CT antigens are expressed in 95% of @DISEASE$ @PHENOTYPICFEATURE$ specimens.	false
+aab6c4247ef22e95f01dbf81cb1e8f28441d6a97	Cystadenoma and metastatic @DISEASE$ tumors expressed significantly more TRAIL-R3 mRNA than primary EOC @PHENOTYPICFEATURE$.	false
+32a3aa22778cdf00d00585b6c58882cae2b3dae5	Cystadenoma and metastatic EOC tumors expressed significantly more TRAIL-R3 mRNA than primary @DISEASE$ @PHENOTYPICFEATURE$.	false
+0072553479ab5eea97d69ece1c1162f22da90211	Cystadenoma and metastatic @DISEASE$ @PHENOTYPICFEATURE$ expressed significantly more TRAIL-R3 mRNA than primary EOC tumors.	false
+a9e1512de0b4b343b10738527f984454b8b7e7b0	Cystadenoma and metastatic EOC @PHENOTYPICFEATURE$ expressed significantly more TRAIL-R3 mRNA than primary @DISEASE$ tumors.	false
+3873413b91f50c29aa29d0b7b8cf4e0c629537aa	Significantly higher SULT1E1 levels were observed in better differentiated EOC @PHENOTYPICFEATURE$ compared to grade 3 @DISEASE$ tumors (P=0.001).	false
+aece504197daba350f585e7716bb40f1c1b16eea	Significantly higher SULT1E1 levels were observed in better differentiated @DISEASE$ @PHENOTYPICFEATURE$ compared to grade 3 EOC tumors (P=0.001).	false
+84cf57a7d5916774242526c3cffd4e6cd813a046	Significantly higher SULT1E1 levels were observed in better differentiated @DISEASE$ tumors compared to grade 3 EOC @PHENOTYPICFEATURE$ (P=0.001).	false
+f1ae1a6b32186b86f6a245292be6da8089c5f4d5	Significantly higher SULT1E1 levels were observed in better differentiated EOC tumors compared to grade 3 @DISEASE$ @PHENOTYPICFEATURE$ (P=0.001).	false
+1f442ef982403e2e6821043654febd8c8d0c126f	@DISEASE$ is a clinically common intracranial @PHENOTYPICFEATURE$.	false
+2a9275c5cabb4b56e1befa38bfbd837a41090c9f	@DISEASE$ represents the most frequent hormone-secreting pituitary @PHENOTYPICFEATURE$.	false
+d13963c4d244a22b6e74d77a7e21db7d304b8454	@DISEASE$ is the most common pituitary @PHENOTYPICFEATURE$ in adults.	false
+784ee44add9daf712426406f98e147dd71670099	Male @DISEASE$ patients tend to have larger @PHENOTYPICFEATURE$ with more aggressive features.	false
+2c8c986bf8969ad5f260eba75f0b3f056673d3e4	@DISEASE$ is the most frequent type of secreting pituitary @PHENOTYPICFEATURE$.	false
+b2a63a5f90b5087af04fe87ac581526bd360cfad	Furthermore, studies with patients with uremia, @PHENOTYPICFEATURE$ or @DISEASE$, have shown the coexistence of hypozincemia and hyperprolactinemia and zinc supplementation did not correct hyperprolactinemia in these patients.	false
+fe21387d2ffb27f8bbe16c155424a91600d13808	The probability of the @PHENOTYPICFEATURE$ being a @DISEASE$ is discussed.	false
+6b636c694d5d0303fd485c4b7d47276df31f674a	Prolactin dynamics and @PHENOTYPICFEATURE$ size in the prediction of surgical outcome for @DISEASE$.	false
+69a268feb8fad82d6e583192ff3727add6c55398	@PHENOTYPICFEATURE$ and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and @DISEASE$-like lesion.	false
+9b4aa595912cec466bcdf5b3262c105cdf6d0696	The relevant literature on pediatric pituitary @PHENOTYPICFEATURE$ and @DISEASE$ is reviewed.	false
+6cd3326998d848126872811456ef017099d8f9e3	To compare the @DISEASE$ with objective neurophysiological tests of @PHENOTYPICFEATURE$.	false
+eea2d8e2402194dff3eb67102f81f64b272c1fdd	@PHENOTYPICFEATURE$ was assessed with the Modified Ashworth Scale (@DISEASE$).	false
+9dd2e032454c709ed4858c16bec402246e1c7935	ESWT effectively reduced @PHENOTYPICFEATURE$ levels measured with @DISEASE$ regardless of patient group.	false
+4dd23d2ca01e1f8c5dae55e830a979a2ada61cf6	The change in arm @PHENOTYPICFEATURE$ was assessed using the modified Ashworth scale (@DISEASE$).	false
+308638fa1c4a63c3a7bd64e7781356936f655059	The measurement of @PHENOTYPICFEATURE$ was evaluated with the Modified Ashworth Scale (@DISEASE$).	false
+44d57805bad07b1945b6715d402b69df48779009	@DISEASE$ and surface electromyography (sEMG) showed better improvement of @PHENOTYPICFEATURE$ in the treatment group.	false
+9d275bb2f0678a675a31b357bfb7144c7098e21e	Patients with shoulder pain and significant @PHENOTYPICFEATURE$ (@DISEASE$ 2) were excluded.	false
+5972995f1b980023efbee4956e27e58a9d089ab9	This suggests that the @DISEASE$ measures muscle hypertonia rather than @PHENOTYPICFEATURE$.	false
+6a8004fa817b7f496bb153f5ae2bac9fe162b889	the @DISEASE$ is not a valid ordinal level measure of RPM or @PHENOTYPICFEATURE$.	false
+dc931ac304f8e6ea51ff3978b2d3eaf18e191c13	The purpose of this study is to compare @DISEASE$ with electrophysiological indices of @PHENOTYPICFEATURE$.	false
+63d82800888389f45bd311e3d31bbd30f0ca9558	The association of @DISEASE$ and @PHENOTYPICFEATURE$ (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme.	false
+4465cb9a5ff23143a310f1fce0e795ea4d67f443	Logistic regression analyses showed that @DISEASE$ pain was associated with sleep @PHENOTYPICFEATURE$ (OR?=?1?8 95% CI?=?1?34-2?34), awake bruxism (OR?=?2?1 95% CI?=?1?56-2?83), other parafunctional habits (OR?=?2?2 95% CI?=?1?17-4?08) and bodily pain complaints (OR?=?5?0 95% CI?=?3?48-7?28).	false
+34435c922b43911b6845d884d98a31cdaf660e0b	The supervised exercise group also showed reductions in @DISEASE$ pain, neck @PHENOTYPICFEATURE$, mood disturbances and somatisation.	false
+b15484d07e6efb5bd0062060c35909b2c93295ad	One hundred and twenty-seven patients, diagnosed according to the RDC/TMD criteria as having myofascial pain with or without limited jaw opening only, were allocated to two groups according to their answers to the RDC/@DISEASE$ 'jaw @PHENOTYPICFEATURE$ checklist'.	false
+5922b76ea9394dd7e950d81072c39ae635f9feea	One hundred and twenty-seven patients, diagnosed according to the RDC/@DISEASE$ criteria as having myofascial pain with or without limited jaw opening only, were allocated to two groups according to their answers to the RDC/TMD 'jaw @PHENOTYPICFEATURE$ checklist'.	false
+c3739e4b588a803b0d1fc9169a52dca54d2cf1c4	Temporomandibular disorders (@DISEASE$) lead to masticatory muscle pain, jaw movement @PHENOTYPICFEATURE$ and limitation in mouth opening.	false
+b016e4c5fc66ab521843abbc24bfc4fe8d9cec7d	Raised @DISEASE$ pulse pressure measurements are associated with death and may be useful in detecting and monitoring risk of intracranial herniation and intracranial pressure in childhood @PHENOTYPICFEATURE$.	false
+ab5d4d922fda69bce741dd3390c1a97a039e89af	Data were collected by means of a clinical examination and a questionnaire about pain status which included a jaw @PHENOTYPICFEATURE$ checklist RDC/@DISEASE$ (Research Diagnostic Criteria for Temporomandibular Disorders).	false
+1c4b8214d9d89e1eb78e35e7593c677313dac8b8	If patients with @DISEASE$ have neck disability in addition to jaw @PHENOTYPICFEATURE$, treatment needs to focus on both areas because the improvement of one could have an influence on the other.	false
+5512c93f0827577e02f51e2d1b29ac384ab874da	There were 20 healthy controls and 20 subjects who had chronic @DISEASE$ and neck @PHENOTYPICFEATURE$.	false
+29c29616b179c1cb5ee7933cdbd39686f22ceba5	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck disability; Group III (n=13), volunteers with TMD and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without @DISEASE$.	false
+7be48082a1983d96e32ecd380edfedbf4471ae46	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with TMD and without neck disability; and Group IV (n=13), volunteers with neck disability and without @DISEASE$.	false
+08632489b7fd1b419021da33d73d18059ac42091	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/@DISEASE$): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with TMD and without neck disability; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+9817b5943d1fe58d0b82342f39666f556d62623c	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with @DISEASE$ and without neck disability; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+0d40233f3ed7f3870dccb6a613535ded138992cd	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with @DISEASE$ and neck disability; Group III (n=13), volunteers with TMD and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+9a0ab0cf370d6cae5aa8c4e182aed537c3d6d1b7	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck disability; Group III (n=13), volunteers with @DISEASE$ and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+b22872be9bce6e634b82afca0b5190191633b1e4	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/@DISEASE$): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with TMD and neck disability; Group III (n=13), volunteers with TMD and without neck @PHENOTYPICFEATURE$; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+7f95d700b580d21a4df85a4587515648be8cbd01	Fifty-two women aged between 18 and 40 years were recruited and allocated to four groups using two outcome measures: the Neck Disability Index (NDI) and the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD): Group I (n=13), healthy volunteers; Group II (n=13), volunteers with @DISEASE$ and neck @PHENOTYPICFEATURE$; Group III (n=13), volunteers with TMD and without neck disability; and Group IV (n=13), volunteers with neck disability and without TMD.	false
+4fa46ba973a6e5ebded5a7fbc1788edf2f98d9bc	The efficacy in controlling @PHENOTYPICFEATURE$ with @DISEASE$ in extratemporal epilepsy is similar to that of resective surgery.	false
+54d84c8b6e77eae49833b2aeac1c505eaedd11e5	EBV DNA was found in tissues from four adults and five children with American @DISEASE$, infectious mononucleosis, lymphoma following bone marrow transplant, central nervous system lymphoma, nasopharyngeal carcinoma, and fatal polyclonal B-cell lymphoma following mononucleosis; two patients also had chronic pneumonitis, @PHENOTYPICFEATURE$, and abnormal immune function.	false
+a689eaa70ba85af74a11c96caaedacc1c49345a4	Other associated abnormalities included tethering of the cord, hydrocephalus, duplex ureter, hydronephrosis, vesicoureteric reflux, @PHENOTYPICFEATURE$, bicornuate uterus, rectovaginal fistula and @DISEASE$.	false
+95a46fa2cfde621881104abea52c8942e944c8dc	Four previous case reports with similar deletions (p11.1p21) were associated with @PHENOTYPICFEATURE$ [Beighle et al., Hum Genet 38:113-121, 1977] and @DISEASE$ (HS) [Chilcote et al., Blood 6:156-159, 1987; Kitatani et al., Hum Genet 78:94-95, 1988; Lux et al., Nature 345:736-739, 1990].	false
+c54908d2c91de590a05c5635bf7bfac01f663db6	The feasibility and safety of laparoscopic splenectomy were evaluated in a prospective multicenter study of 50 patients operated on for idiopathic thrombocytopenic purpura (ITP) (n = 31), @DISEASE$ (n = 6), hemolytic anemia (n = 4), Hodgkin's disease or lymphoma staging (n = 5), benign splenic @PHENOTYPICFEATURE$ (n = 3), and wandering spleen (n = 1).	false
+ae283070dedbbb8af49e4eab4697d0a58b174236	Therefore, the affinity GHb and HbF was determined in four members of an HS family and in nine other cases of non-hemoglobinopathic hemolytic anemia, including three autoimmune hemolytic anemias, four red cell fragmentation syndromes (two "Waring blender" syndromes, one thrombotic thrombocytopenic purpura in association with @PHENOTYPICFEATURE$, and one case of disseminated intravascular coagulation), and two red cell membrane defects: paroxysmal nocturnal hemoglobinuria and another case of @DISEASE$.	false
+e8a2919a8d62afba9efd6a4d5f7d4be0cfe9a204	We diagnosed her @DISEASE$ (HS) from spherocytosis and family history and found a @PHENOTYPICFEATURE$ in her enlarged spleen.	false
+03c94dae3740d64ceeb5b15abe32869c6696b4e9	Extramedullary haematopoiesis in @DISEASE$ simulating mediastinal @PHENOTYPICFEATURE$.	false
+5ea4efd3103b50c1b86c3989558c0f97b42803e9	Diagnosis: @PHENOTYPICFEATURE$-simulating asymptomatic intrathoracic extramedullary haematopoiesis (EMH) in a patient with @DISEASE$.	false
+b47b3f4445a6c1cfe33381a9eea6c6af0eaff214	In patients with hypercalcemia with @PHENOTYPICFEATURE$, gastrin concentration is often measured to exclude the @DISEASE$.	false
+0009b526e8262dbbfa04693499527f86cb39a6d5	4H: Hypomyelination, @PHENOTYPICFEATURE$ and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+4924036ecd8c69d2ff202defd345a29af0301279	The best level of evidence for genetic testing recommendation (B) can be found for a small number of syndromes, @DISEASE$, severe @PHENOTYPICFEATURE$ epilepsy of infancy, familial recurrent hemorrhages, familial Alzheimer's disease, and frontotemporal lobar degeneration.	false
+6b4374e3970b8ac1f26d2183ba3ff5066edc01ac	Cortical/@DISEASE$ (CVI) is now the main cause of @PHENOTYPICFEATURE$ in developed countries, yet it remains poorly understood.	false
+4c7e6afc58c63d05cf4b9e93eaba162cf30ba0a1	@DISEASE$ (CVI) has become the primary cause of @PHENOTYPICFEATURE$ and blindness in children in industrialized countries.	false
+3774e0e2207e035f2e602a7d91eef33802faf2fd	@DISEASE$ (CVI) is a major cause of @PHENOTYPICFEATURE$ in children worldwide.	false
+c67157292e173b2296f52c8b462af5a3c4612694	@DISEASE$ (CVI) is bilateral @PHENOTYPICFEATURE$ caused by damage to the posterior visual pathway, the visual cortex, or both.	false
+40e4bdfc2c6116248710e6a3b8092c8040d971a1	Notable also was the reduction in incidence of @PHENOTYPICFEATURE$ following congenital glaucoma and cataract and the corresponding increase in @DISEASE$ (CVI) during this period.	false
+fe3991cfd200b1cf063046bde4ecc8f98cbe5b53	Notable also was the reduction in incidence of visual impairment following congenital glaucoma and @PHENOTYPICFEATURE$ and the corresponding increase in @DISEASE$ (CVI) during this period.	false
+d64d8c4bb27c393f78616d91dc736d746716f28b	@DISEASE$ (CVI) is the most common cause of bilateral @PHENOTYPICFEATURE$ in children in Western countries.	false
+e8eae98a228ecac7bacae18233135f799e8e822d	@DISEASE$ (CVI) is now the most common cause of @PHENOTYPICFEATURE$ in children.	false
+5f8ca1bba8af5fdd38c9ed9acede4db8e2a73fa3	The absence and degree of macular @PHENOTYPICFEATURE$ abnormality, optic nerve hypoplasia, optic nerve atrophy, @DISEASE$, developmental delay, cerebral palsy, seizures, and nystagmus were noted.	false
+8f82f01e1dca4ee02a126e755b675e13035af6cf	@DISEASE$ is a prevalent cause of @PHENOTYPICFEATURE$ in children.	false
+3bbe421a6a661bad4586d0b1971a5641f5b4404a	@DISEASE$ (CVI) is a leading cause of bilateral @PHENOTYPICFEATURE$.	false
+c9185a6cc7bb76bfb4650ca62e694bcff9fc81ac	Possible association between complex @PHENOTYPICFEATURE$ and 11p15 hypomethylation in three patients with severe @DISEASE$.	false
+3a4e4a8ad9eb9fc73a88a276a6b984d31e593ca5	@PHENOTYPICFEATURE$ versus overgrowth: @DISEASE$ is genetically opposite to Beckwith-Wiedemann syndrome.	false
+f59b2610bea4ea3b739295e1af4b11c4116e8b75	Growth retardation versus @PHENOTYPICFEATURE$: @DISEASE$ is genetically opposite to Beckwith-Wiedemann syndrome.	false
+68c3217ae82a848eec04ef54695d7c010a71990b	Uniparental disomy 7 in @DISEASE$ and primordial @PHENOTYPICFEATURE$.	false
+ab235eef8b02322032183ad33b9c3e6170b62069	Maternal UPD for chromosome 7 (matUPD7) results in Silver-Russell syndrome (SRS) with typical features and @PHENOTYPICFEATURE$, but no gene has been conclusively implicated in @DISEASE$.	false
+8f0ab08b84a4986131491c78924953a46a6a1bd6	Maternal UPD for chromosome 7 (matUPD7) results in @DISEASE$ (SRS) with typical features and @PHENOTYPICFEATURE$, but no gene has been conclusively implicated in SRS.	false
+0ec2b845daccdfddc06c65afef32554dc8593fd0	Maternal UPD for chromosome 7 (matUPD7) results in Silver-Russell syndrome (@DISEASE$) with typical features and @PHENOTYPICFEATURE$, but no gene has been conclusively implicated in SRS.	false
+746a2b1cf204275ba1bfc7e29b716e4d42fa6f04	Silver-Russell syndrome (@DISEASE$) is a heterogeneous disorder characterized by intrauterine and post-natal @PHENOTYPICFEATURE$, dysmorphic facial features and body asymmetry.	false
+e20d2d9bda35cc5458fc5f84ac39def86c881ed6	@DISEASE$ (SRS) is a heterogeneous disorder characterized by intrauterine and post-natal @PHENOTYPICFEATURE$, dysmorphic facial features and body asymmetry.	false
+fe8aff5533fd586d63adbb80dc685765d789a8f5	An opposite epimutation in the same region is associated with Silver-Russell syndrome (@DISEASE$), a @PHENOTYPICFEATURE$ disorder characterised by a typical facial gestalt, clinodactyly V and asymmetry.	false
+54910553d2762f43a42caf85189c949229349c66	An opposite epimutation in the same region is associated with @DISEASE$ (SRS), a @PHENOTYPICFEATURE$ disorder characterised by a typical facial gestalt, clinodactyly V and asymmetry.	false
+03937a7e545a08fffb8f174b8cb8d571cade4b0e	Interestingly, the 11p15 imprinting region is also associated with @DISEASE$ which is a typical @PHENOTYPICFEATURE$ syndrome.	false
+801638c9ec208abe7c704a93c0e7fd4477e652d7	Silver-Russell syndrome (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder with a very broad molecular and clinical spectrum.	false
+3ab27061b4be0de2a346e7332eea7abd17fa0a01	@DISEASE$ (SRS) is a @PHENOTYPICFEATURE$ disorder with a very broad molecular and clinical spectrum.	false
+ddfe29f0a1a78375cde3b2fa95d8b50bc6ec3ea2	Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and @DISEASE$ (SRS) associated with @PHENOTYPICFEATURE$.	false
+136960b24bd8085538cac05917250fd95db87e80	Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and Silver-Russell syndrome (@DISEASE$) associated with @PHENOTYPICFEATURE$.	false
+e42228689d1124740ffc7be45d9b25e37fdbe285	Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by @PHENOTYPICFEATURE$ and @DISEASE$ (SRS) associated with growth retardation.	false
+28e8408e3c7101ba529c83b99d79a3ba4a5363e8	Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by @PHENOTYPICFEATURE$ and Silver-Russell syndrome (@DISEASE$) associated with growth retardation.	false
+c9b2468b590ad184d1afdac0d43e3e2a400a5b58	Background @DISEASE$ (SRS) is characterized by @PHENOTYPICFEATURE$ and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.	false
+44ed1eba33b17ef40697a4d7a4d938fd33d2460a	Background Silver-Russell syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.	false
+0f4a909e55a485641bdfc3b4dd99d69e1050c182	The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, @PHENOTYPICFEATURE$, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to @DISEASE$.	false
+185bcd73d41fe0cba1260a199a739d340fa6e5d2	The results suggest that this model of @DISEASE$, although not expressing @PHENOTYPICFEATURE$, is characterized by hypersynchronous thalamocortical oscillations that possess absence-like pharmacologic responsiveness and promote EEG slowing, interictal spikes, and convulsive seizures.	false
+321a53e8a7b1c9b70638b063d0f44ed6c5974a2c	Cataracts have been described in Prader-Willi syndrome but we could not find any description of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4a3a5e0035d0d3a08b8e3812f2bcec84eae0ab22	Mild @DISEASE$, due to a common variant at nucleotide 677, has been reported to alter risk for several disorders including cardiovascular disease, @PHENOTYPICFEATURE$, pregnancy complications, and certain cancers.	false
+bc7468400beb72f2b132f7616f63520621015f35	A common 677C???T variant in MTHFR confers mild @DISEASE$ and has been associated with a number of human disorders, including @PHENOTYPICFEATURE$ and vascular disease.	false
+31ae8244d2a61da7dd036bdbaa774fd082fe152b	Mild @DISEASE$, due to a common variant at nucleotide 677, has been reported to influence risk for several disorders including cardiovascular disease, @PHENOTYPICFEATURE$, pregnancy complications and cancer.	false
+718a9df769609bd868c3714817216067642959c4	De novo KAT6B mutation, @DISEASE$, and specific @PHENOTYPICFEATURE$.	false
+4279f43d05163a2e0f87710e4b384ad9f2b6685b	We made a diagnosis of cerebellar brainstem form of @DISEASE$ (PML) presenting as @PHENOTYPICFEATURE$, which was presumably associated with idiopathic CD4+ lymphocytopenia.	false
+05766dae89d59717e2c0b2a2f8c2ca88fb72c7c2	We made a diagnosis of cerebellar brainstem form of progressive multifocal leukoencephalopathy (@DISEASE$) presenting as @PHENOTYPICFEATURE$, which was presumably associated with idiopathic CD4+ lymphocytopenia.	false
+76fc8aa7cbb1cd96b0e06a682475bb876839a68a	Neurological diseases examined were AD (N=186), @PHENOTYPICFEATURE$ Friedreich's type (AFT; N=6), amyotrophic lateral sclerosis (ALS; N=16), autism spectrum disorder (ASD; N=26), dialysis dementia syndrome (DDS; N=27), Down's syndrome (DS; trisomy21; N=24), Huntington's chorea (HC; N=15), multiple infarct dementia (MID; N=19), multiple sclerosis (MS; N=23), Parkinson's disease (PD; N=27), prion disease (PrD; N=11) including bovine spongiform encephalopathy (BSE; 'mad cow disease'), Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Sheinker syndrome (GSS), @DISEASE$ (PML; N=11), progressive supranuclear palsy (PSP; N=24), schizophrenia (SCZ; N=21), a young control group (YCG; N=22) and an aged control group (ACG; N=53).	false
+71e9fc0fa35d6a7116f992c4e674405a050b4873	Alzheimer's disease, dementia with Lewy bodies and genetic neurodegenerative disorders were alternative diagnoses in more than half of the CJD mimic cases, and 10% had an immune-mediated @PHENOTYPICFEATURE$; lymphoma, hepatic encephalopathy and @DISEASE$ were seen more than once.	false
+2faa4d5351fc170804a208caea597498f507abc4	We report the case of a 15-year-old girl with @DISEASE$ and AIDS who presented with nystagmus, dysarthria and @PHENOTYPICFEATURE$.	false
+79d1f70526071077c7df69c9d942be055755130e	PNS can be seen as encephalomyelitis, limbic encephalitis, @DISEASE$, @PHENOTYPICFEATURE$, brainstem encephalitis, and paraneoplastic cerebellar degeneration.	false
+ee711b86c0ae24393209fb4cce2e61943275f88c	Successful intrathecal ethanol block for intractable @PHENOTYPICFEATURE$ of AIDS-related @DISEASE$.	false
+b04eb94e294f0308b1d443dd2617de7d64e31d94	CD4 was significantly low in most of the patients with @DISEASE$, HIV associated @PHENOTYPICFEATURE$ (HAD) and cryptococcal meningitis compared with other neurological manifestations.	false
+f25dc53201ab336cb1709881a9d3758393bd1af0	JC virus (JCV) infection is a lytic infection of oligodendrocytes in @DISEASE$; less common forms of central nervous system manifestations associated with JCV infection include granule cell neuronopathy, @PHENOTYPICFEATURE$, and meningitis.	false
+d309064f4477dff539a6d78834d694be09cea93f	We further show that @DISEASE$ deficiency exacerbates polyglutamine (polyQ) disease in a mouse model of spinocerebellar @PHENOTYPICFEATURE$ 1 (SCA1).	false
+1c18b4e2e808070fe09a58e46ec32fd0c94fe862	To study the efficacy of intrathecal ethanol block to relieve intractable @PHENOTYPICFEATURE$ in AIDS-related progressive multifocal leukoencephalopathy (@DISEASE$) when long-term intrathecal baclofen infusion cannot be used.	false
+ca189ad2c4267c120545657b133f0d7468c7ee2e	To study the efficacy of intrathecal ethanol block to relieve intractable @PHENOTYPICFEATURE$ in AIDS-related @DISEASE$ (PML) when long-term intrathecal baclofen infusion cannot be used.	false
+1904fab560f7cbd18216a374864cae37eb3330cb	The latter show a marked overlap with genes associated with a variety of autoimmune disorders including Graves' disease, @PHENOTYPICFEATURE$, type 1 diabetes and @DISEASE$, suggesting common pathophysiological mechanisms.	false
+d9f7f9cce05037346d55820ce3e0503fb325d762	Female patients with CU had a significantly higher incidence of rheumatoid arthritis, Sj?gren syndrome, @DISEASE$, type I diabetes mellitus, and @PHENOTYPICFEATURE$, mostly diagnosed during the 10 years after the diagnosis of CU.	false
+ffec1366b2d39359e59371e05eb98776c18b270c	This protocol will be applied for 16 different systematic reviews concerning eighteen diseases (Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Type 1 diabetes mellitus, Acute myocardial infarction, Ischemic heart disease, Stroke, Hypertension, Heart failure, Congenital heart anomalies, Parkinson's disease, Multiple sclerosis, Epilepsy, Chronic obstructive pulmonary disease, @PHENOTYPICFEATURE$, Inflammatory bowel disease, @DISEASE$, Chronic kidney failure).	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+8bb168a2054e9cb3149af5de089af77fb88e164b	A possible association exists between progressive @PHENOTYPICFEATURE$ and @DISEASE$, given the temporal relationship and the relatively high frequency of ataxia and peripheral neuropathy, more commonly associated with celiac disease.	false
+df2df5421e03c2d5196860a822d1e76166ad1747	A 40-year-old woman with @DISEASE$, hypocalcemia and @PHENOTYPICFEATURE$ is reported.	false
+1a41c55139056f98bdb3aac4a541b8917745d3ac	To characterize the clinical, radiological, and electrophysiological laboratory profiles and histological features of patients who developed @PHENOTYPICFEATURE$ temporally associated with @DISEASE$.	false
+32ae204d3b09361e28fbc9e9ab99335c056add89	A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and @PHENOTYPICFEATURE$: @DISEASE$.	false
+151f98786c992ca436ce693d1989998fd17f4ba4	Metaphyseal dysplasia with narrow thorax, proximal @PHENOTYPICFEATURE$, and short fingers are typical of @DISEASE$ and ATD-JS.	false
+f7a3dc508e93756ff399412ff632776e84e466a3	Receptive language and @DISEASE$ were not related in children with @PHENOTYPICFEATURE$.	false
+28e3e74dbe5689e8b30cc1e986ecbaf2ba3174a4	Examples of disorders that should not be misdiagnosed as ALS, because their prognosis and treatment differ, are @DISEASE$, Kennedy's bulbospinal atrophy, cervical myelopathy, hyperthyroidism and @PHENOTYPICFEATURE$.	false
+4982db2c28efed370466e345a97c3712b51660b8	The presented cases highlight an unusual presentation of @DISEASE$ and emphasize that peripheral nerve pathology can present with @PHENOTYPICFEATURE$ mimicking central nervous system disease.	false
+fc7a0635397a005761cbacc17a705ee350090686	These observations, correlated and integrated with electrophysiological and pathological findings in humans indicate that the GBS subtypes acute motor conduction block neuropathy, acute motor axonal neuropathy, acute motor and @PHENOTYPICFEATURE$ and acute sensory neuropathy and possibly also a chronic disorder as @DISEASE$ represent a spectrum of the same immunopathologic process.	false
+79166dac951b89eb5e407f10a531ef383568565c	Recommendations for use of IVIG were made for 14 conditions, including acute disseminated encephalomyelitis, chronic inflammatory demyelinating polyneuropathy, dermatomyositis, diabetic neuropathy, Guillain-Barr? syndrome, Lambert-Eaton myasthenic syndrome, @DISEASE$, multiple sclerosis, myasthenia gravis, opsoclonus-myoclonus, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, polymyositis, Rasmussen's encephalitis, and stiff person syndrome; IVIG was not recommended for 8 conditions including adrenoleukodystrophy, amyotropic lateral sclerosis, @PHENOTYPICFEATURE$, critical illness polyneuropathy, inclusion body, myositis, intractable childhood epilepsy, paraproteinemic neuropathy (IgM variant), and POEMS syndrome.	false
+a217f4fb69215a6f67626a099fd1b2a191092646	Adult-onset Still's disease (@DISEASE$) is empirically treated with nonsteroidal anti-inflammatory drugs, corticosteroids, conventional disease-modifying antirheumatic drugs, @PHENOTYPICFEATURE$ necrosis factor-blocking agents or anakinra.	false
+e0f89055ff99ee5210cb6266f42c00fa54fb0126	An increasing number of studies have shown that proinflammatory cytokines, such as interleukin-1?, -18, -6, and @PHENOTYPICFEATURE$ necrosis factor-?, play key roles in @DISEASE$ and may serve as therapeutic targets.	false
+8a95e7027f3e85da2e1ee97425c6f48b2e2bae51	A disease resembling @DISEASE$ can precede the clinical appearance of a hematologic malignancy or a solid @PHENOTYPICFEATURE$.	false
+5fea98853d7ba30e1999e8de26a33b55a38ef77e	S100A8/A9, interleukin-1? (IL-1?), and @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) levels in active @DISEASE$ patients were higher than those of HCs.	false
+4556a8fc634d89d419e0b077387640d191077cc7	TOC may be a promising treatment option for @DISEASE$ patients refractory to conventional disease-modifying antirheumatic drugs anakinra and @PHENOTYPICFEATURE$ necrosis factor-[Formula: see text].	false
+0c8a78455514cfb93bf1190640753e1b9fbf803b	@DISEASE$ (PCT) may be associated with various @PHENOTYPICFEATURE$.	false
+43d107eac227694539ed30c6fda8cdddaa471a9e	[@DISEASE$ and @PHENOTYPICFEATURE$.	false
+844ff0b49d4a436f956740c463d2cdb11a368689	In @PHENOTYPICFEATURE$ @DISEASE$ changes were only present when the corresponding nonmalignant lung demonstrated a variation from the most common repeat number of seven.	false
+b934360c92004f2b599b6ae23cc7f72fb8307f6d	Comments are made concerning the clinical association @DISEASE$-hepatoma: (1) either PCT is associated with a hypersecretory hepatoma and behaves as a neoplastic syndrome following the same course as the @PHENOTYPICFEATURE$; (2) or PCT is associated with a cirrhosis (usually alcoholic) which facilitates the development of a hepatoma.	false
+a2ad7a9f6f3f0bca7ec4f2e363dd9922463246f2	Conventional MR imaging features of these @PHENOTYPICFEATURE$ were assessed separately and compared with @DISEASE$ parameters.	false
+31d2c010bb0f88754550cbfd7e005aa0c328f3c5	The frequency of cytotoxic T lymphocyte precursors (CTL-P) reactive to plasmacytoma (@DISEASE$) @PHENOTYPICFEATURE$-associated antigens (TAA) was studied in BALB/c mouse spleen.	false
+eb8388d6a6574ea980a6cc988a2613ec40bffb04	@DISEASE$ (PCT), the most common form of porphyria, may be one of the rare cutaneous manifestations of hepatic @PHENOTYPICFEATURE$, benign, malignant, or metastatic.	false
+6e96063fd53c828a0fb700cf42d280a4d1cf85eb	To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of @DISEASE$, caused by a dominant @PHENOTYPICFEATURE$ (I604M) in the calcium channel gene TRPV4.	false
+c231c35a4056f7817612f4a1aa502daeeb890e27	A 12 day-old male neonate had @PHENOTYPICFEATURE$, short limbs and coccygeal tail and showed radiological features of @DISEASE$.	false
+cde48f189d7121688e1e9d20ed790adee375a7f1	Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and @DISEASE$ (MD) are currently considered three distinct skeletal dysplasias with some shared clinical features, including @PHENOTYPICFEATURE$, platyspondyly, and progressive scoliosis.	false
+0a2d497c753574c59e5f83fd499de53b50cf8514	Treacher Collins-@DISEASE$ with tracheoesophageal fistula, rectovaginal fistula, and @PHENOTYPICFEATURE$: variant, or new syndrome?	false
+1f686c5e5f71df9c18621068d5df087ca8085fb1	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning @PHENOTYPICFEATURE$ (e.g., Alzheimer's disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, @DISEASE$, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+8c6e73a3d437aae324b3f7afcb5b02fdd29eb170	We report here a case of congenital bilateral severe @DISEASE$ with @PHENOTYPICFEATURE$ and cerebral palsy.	false
+93520f0feda3e9e1418351381d95f189c700bab8	In the presence of @DISEASE$ the syndrome is likely to include @PHENOTYPICFEATURE$.	false
+c61722394c45afe728e091c4d2e719f9977748de	She had chorioretinal defects, developmental delay, infantile @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bcb9b6519a694454f432a027c5b72a06ec06aa61	The patient had @DISEASE$, a small nose with hypoplastic alae nasi, and @PHENOTYPICFEATURE$.	false
+9b02e7b272e6f3669292b1887e4321f976bde81f	Two sibs with @DISEASE$ had @PHENOTYPICFEATURE$ and laryngeal stenosis, suggesting a clinical diagnosis of FS.	false
+8daeee261a3ca0882402f0548346f72d2e5ab7a9	@DISEASE$ or anophthalmia in a @PHENOTYPICFEATURE$ patient is associated with hypogonadotropic hypogonadism.	false
+af108d831063f8863400bf3d8b5c288073ff30bd	The patient had @DISEASE$, blindness, widely spaced nipples, bifid ureter, syndactyly of the toes, and @PHENOTYPICFEATURE$.	false
+89e01ef0621df5b5573b20b6b813706a455a6242	The patient had @DISEASE$, blindness, widely spaced nipples, bifid ureter, @PHENOTYPICFEATURE$ of the toes, and mental retardation.	false
+91a9e5a56760a32b6273160bf0fdcb3e286e7a66	The heterogeneity of @DISEASE$ in the @PHENOTYPICFEATURE$.	false
+c3a59efdfd370a23327f2433fe73ae7bbc2716b4	The key features in this syndrome are @DISEASE$, enamel hypoplasia and @PHENOTYPICFEATURE$ of the 4th-5th fingers.	false
+aa7e3a2432ecc1f08656dbfaef6bec147b8ae8be	X-linked dominant chondrodysplasia with platyspondyly, distinctive @PHENOTYPICFEATURE$, hydrocephaly, and @DISEASE$.	false
+a36dd91469e6c3f7ba897af093f1342f8da0031e	Echocardiography provided the initial diagnosis of significant pulmonary hypertension, unrelated to left heart pathologic conditions, in 10 patients: four with acute pulmonary embolism; five with chronic pulmonary hypertension, primary in three patients and secondary to @PHENOTYPICFEATURE$ emboli in the other two patients; and one with @DISEASE$ due to previously unsuspected atrial septal defects.	false
+746908b375bab12c2033837b70f5b8197e0c91ef	A 21-year-old woman with @DISEASE$ was scheduled to have a fibular head @PHENOTYPICFEATURE$ excision.	false
+a23ebae4a60a596d57d7540a0249dbe243c11254	A patient with the @DISEASE$ presented for removal of a carotid body @PHENOTYPICFEATURE$ under general anaesthesia.	false
+d92cefaccfbe9fc7e10443c571adc5c6c090cb07	Surgery for catecholamine-secreting neuroendocrine @PHENOTYPICFEATURE$ poses a high anaesthetic risk that might increase due to coexisting congenital heart diseases, such as a single ventricle and @DISEASE$.	false
+30e81c8f65f9472ed3dd0b03a855af8f15576409	Continuous cervical plexus block for carotid body @PHENOTYPICFEATURE$ excision in a patient with @DISEASE$.	false
+95c385a1277463288fe3838600cae9b06f2d1e13	Anaesthesia for carotid body @PHENOTYPICFEATURE$ resection in a patient with the @DISEASE$.	false
+1cbf5250dd01ab12061c91630ecf164ea3822e41	Twenty-two patients were enrolled for this study and divided into 3 groups: subarachnoid hemorrhage (SAH)-induced hydrocephalus, idiopathic @DISEASE$ (INPH) and @PHENOTYPICFEATURE$ with a subsequent shunt infection.	false
+741824b9fd5e10c7a90ece2d3f575065f319532b	Twenty-two patients were enrolled for this study and divided into 3 groups: subarachnoid hemorrhage (SAH)-induced @PHENOTYPICFEATURE$, idiopathic @DISEASE$ (INPH) and hydrocephalus with a subsequent shunt infection.	false
+32d22872453b46f87389ecd32720af318af89a1c	Utility of MRI-based disproportionately enlarged subarachnoid space @PHENOTYPICFEATURE$ scoring for predicting prognosis after surgery for idiopathic @DISEASE$: clinical research.	false
+3339b474eace27ade6900361d5ff52be28f090af	Disproportionately enlarged subarachnoid-space @PHENOTYPICFEATURE$ (DESH) findings are often reported as characteristic radiological features of idiopathic @DISEASE$ (iNPH).	false
+80c1d5185e9d7f0adfde7a12ae10a0f09e99e820	A postoperative change in ventricular volume should be assessed differently in patients with @DISEASE$ compared with those suffering from hypertensive @PHENOTYPICFEATURE$.	false
+3d7badbabe38ab2cc602e7f777a37261163db8b4	In the sample of @DISEASE$ patients (n = 24), three categories were distinguished using these criteria: idiopathic active hydrocephalus (A), arrested @PHENOTYPICFEATURE$ (AH), and post-traumatic hydrocephalus (PT).	false
+9b47eb6f0995ce21b34380b9c9d9772d85b448d2	In the sample of @DISEASE$ patients (n = 24), three categories were distinguished using these criteria: idiopathic active @PHENOTYPICFEATURE$ (A), arrested hydrocephalus (AH), and post-traumatic hydrocephalus (PT).	false
+5e249ab03d0b23696ab7690b6fef7d37121eb0c2	In the sample of @DISEASE$ patients (n = 24), three categories were distinguished using these criteria: idiopathic active hydrocephalus (A), arrested hydrocephalus (AH), and post-traumatic @PHENOTYPICFEATURE$ (PT).	false
+c5df3a9e4ac6eac60c3eae2ae59c304d0e6b118c	Create an automated classifier for imaging characteristics of disproportionately enlarged subarachnoid space @PHENOTYPICFEATURE$ (DESH), a neuroimaging phenotype of idiopathic @DISEASE$ (iNPH).	false
+9224559ea374b91a9910541f88958a5cadbc45ec	Thirty-five patients with idiopathic adult @PHENOTYPICFEATURE$ (@DISEASE$) syndrome based on conservative clinical criteria.	false
+f3d2422835d161b7073a92ee4cee54262b6e8540	Data on age, gender, type of @PHENOTYPICFEATURE$ and type of surgery were extracted as well as three months outcome for patients with idiopathic @DISEASE$ (iNPH).	false
+9685d68c5a46956833abad56005972331c9a4318	Thirty four patients with idiopathic adult @PHENOTYPICFEATURE$ (@DISEASE$) syndrome were included in a prospective, consecutive case series.	false
+80c1d5185e9d7f0adfde7a12ae10a0f09e99e820	A postoperative change in ventricular volume should be assessed differently in patients with @DISEASE$ compared with those suffering from hypertensive @PHENOTYPICFEATURE$.	false
+d27a718e0c5993b68c9cccb3eac72ba42540b4eb	KIF5A gene causes @DISEASE$, a neurological disorder characterized by @PHENOTYPICFEATURE$ and weakness of the lower limbs (SPG10).	false
+7062d566f3f7dcfb5f464c70d2da31ba022e2195	The patients did not display many of the features described as typical for @DISEASE$ myeloma: in particular younger age group, decreased survival and increased incidence of lymphadenopathy, hepatosplenomegaly, extraosseous disease, @PHENOTYPICFEATURE$, renal failure and hypercalcemia.	false
+21a07537b62847c580bb1ca1a1efd04408c8d5b1	@DISEASE$ is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone abnormalities, hearing loss, synkinesia, @PHENOTYPICFEATURE$, poor balance due to cerebellar ataxia, etc.	false
+186ecea9154353ea6b845abc362910e53b64bde0	We describe a pedigree presenting X-linked @PHENOTYPICFEATURE$ associated with multiple congenital abnormalities and @DISEASE$, leading in one family member to female gender assignment.	false
+b5e683ed890ffdacb338d67c92d3b0727f849563	associated with @DISEASE$, tall stature and @PHENOTYPICFEATURE$.	false
+72f3af95bac01a60b8568e3f81a3b9ec27e88a68	TAC levels were highest in patients with only @PHENOTYPICFEATURE$ and lowest among @DISEASE$ patients and results were statistically significant between all groups (P<0.05).	false
+83486e83366e88c07975ff1119563cfe6b2f5afe	His features included a distinctive facial appearance, @PHENOTYPICFEATURE$, hearing impairment, @DISEASE$, keloid scarring, immune dysregulation, and mild learning difficulties.	false
+8ef4d6650e1a3ff742c12e9b2a3766aebea79740	deletion often include @DISEASE$, @PHENOTYPICFEATURE$, immunodeficiency, hypocalcemia, and developmental delay or learning disabilities.	false
+055c6e480d4447597be50041f535b35629c6c8f7	Associated cardiac conditions were severe rheumatic mitral regurgitation (3 cases), cardiomyopathy (5), atrial @PHENOTYPICFEATURE$ (2), infective endocarditis (1), paroxysmal atrial tachycardia of infants (4), idiopathic paroxysmal atrial fibrillation (1), Marfan's syndrome with mitral regurgitation (1), endocardial fibroelastosis (1), and structural @DISEASE$ (17).	false
+bb082ccef4d7108e991e73f55f5f86a14b60bc1d	In seven fetuses a gastrointestinal malformation was diagnosed between 20 and 36 weeks of gestation; there were 16 cases of urogenital anomalies detected between 19 and 38 weeks of gestation, and five other various malformations were detected between 17 and 33 weeks of gestation (two diaphragmatic hernias, one @DISEASE$, and two cases of benign @PHENOTYPICFEATURE$).	false
+ea31f8df2f0aa41e99305abb3fcc347d1c73b5a1	Patients frequently also have skeletal and connective tissue anomalies, craniosynostosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0507608321b51a57fb6d46d38dc06017b64f911c	From the reviewed research, it can be concluded that deficits in executive functioning and memory appear in @DISEASE$ patients between 18 and 40 years old, and mild @PHENOTYPICFEATURE$ in older than 50.	false
+1ef9bffa7b4da1c97af793e0cc64c63acc697707	At 7 days after intracranial implantation, @DISEASE$-null tumors had decreased tumor cell survival, proliferation and reduced @PHENOTYPICFEATURE$ size.	false
+245a90042ca6f7e89c83ad642d48760b63eea17b	At 7 days after intracranial implantation, @DISEASE$-null tumors had decreased @PHENOTYPICFEATURE$ cell survival, proliferation and reduced tumor size.	false
+cd17196ad76492283ff9bc28d4584500455dbfde	At 7 days after intracranial implantation, @DISEASE$-null @PHENOTYPICFEATURE$ had decreased tumor cell survival, proliferation and reduced tumor size.	false
+23279aed81801327be9ec433c7c7e57fb1ad5c83	MF-CCA patients with @DISEASE$ @PHENOTYPICFEATURE$ positive and stromal negative expression may have favorable OS rates after curative hepatectomy.	false
+c09ddabf20c2645521349259b77d249399f38305	@DISEASE$ deficiency abrogates @PHENOTYPICFEATURE$-initiated permeability of lung capillaries and prevents extravasation, whereas SPARC overexpression enhances vascular leakiness, extravasation and lung metastasis.	false
+1aaf82c2845d2020a3d32594cd773ff8cfa66a0e	@DISEASE$-rich @PHENOTYPICFEATURE$ had a significantly higher proportion of specimen area occupied by blood vessels (P=0.04) and showed a positive association with the presence of epithelioid-type tumoral cells (P=0.101).	false
+ff1cf13b8548fff8f59ce70ad286d648267b6d17	DEC pretreatment similarly enhanced antitumor activity with either ABX or taxol in @DISEASE$-negative @PHENOTYPICFEATURE$.	false
+4a7e78588c8faaef0072dcce28b0dafdeae8312a	While @DISEASE$-high @PHENOTYPICFEATURE$ are immune infiltrated, they also exhibit multiple features of an immune-suppressed microenviroment.	false
+ecedfa8a9a01a244f0c61de9ab5335a81f0a0207	Using a chemical carcinogenesis model in @DISEASE$-deficient mice and their wild-type littermates, we found that loss of SPARC accelerated the development of urothelial preneoplasia (atypia and dysplasia), @PHENOTYPICFEATURE$, and metastasis and was associated with decreased survival.	false
+1c7182e0a77f3ab337e28e7b2dd1fbae85c89e4b	-deficient and proficient mice mitigated the effect of @DISEASE$-deficiency and significantly reduced @PHENOTYPICFEATURE$ burden, ROS, and oxidative tissue damage in syngeneic tumors.	false
+e2a3bc6474663939c321d6eac4edce99d3b47144	-deficient and proficient mice mitigated the effect of @DISEASE$-deficiency and significantly reduced tumor burden, ROS, and oxidative tissue damage in syngeneic @PHENOTYPICFEATURE$.	false
+12aa77f218e3f32e1f8b1a5a19d1b070218a1f58	Our data indicate that @DISEASE$ delays @PHENOTYPICFEATURE$ cell growth in the log phase of the growth curve.	false
+2495b9579ab15492c76e8af4549143cc92629701	2) Suppressing @DISEASE$ increases @PHENOTYPICFEATURE$ cell survival, indicating it is not a good therapeutic target.	false
+462d89b1e1f59a8a041ce878ef780a1594937c46	The @PHENOTYPICFEATURE$ originates either in the stroma of the endometrium or in foci of myometrial @DISEASE$.	false
+1b3cd1ae5af175c8ff980b920d67fe3cd7108e5d	We encountered 18 cases in which @PHENOTYPICFEATURE$ involved foci of @DISEASE$ without myometrial invasion.	false
+0ffbccf26663e6f31438fc3e4c335c0cb09a5894	The differential diagnosis of @PHENOTYPICFEATURE$-like and sarcomatous IVSP, and histogenesis of @DISEASE$ are discussed.	false
+8e68cf7c69c9efbbae6b0c3454c32785116d5763	Primary uterine m?llerian mucinous borderline @PHENOTYPICFEATURE$ (MMBT) associated with @DISEASE$: a case report.	false
+f6866d0e3f89ab6854427cfd2b665e920e43d59c	Down-regulation of @PHENOTYPICFEATURE$ suppressor PDCD4 expression in endometrium of @DISEASE$ patients.	false
+00ddbef44893a2813ae9362a3861d3070401040b	When adenocarcinoma involves adenomyosis, the @PHENOTYPICFEATURE$ may remain limited to the @DISEASE$ or proceeds to invade the adjacent myometrium.	false
+bec3aa484e85738e96a2a943904be7d54d2939a2	When adenocarcinoma involves @DISEASE$, the @PHENOTYPICFEATURE$ may remain limited to the adenomyosis or proceeds to invade the adjacent myometrium.	false
+474cc8fa1c674cb683460914113a4d966802e4e8	Significance of @DISEASE$ on @PHENOTYPICFEATURE$ progression and survival outcome of endometrial cancer.	false
+5f66c38499fc712db7e2ce7681096e53e21e1165	Surgical management of @DISEASE$ and @PHENOTYPICFEATURE$ has previously been reported in nonhuman primates.	false
+1b88a152401319c59f7f5195451ee4b7a93b598f	CA 125 levels are affected by the @PHENOTYPICFEATURE$ size and coexistence of @DISEASE$ in uterine leiomyomas.	false
+634452d95b5d9d7c9928072ec08d9c853f83cdb9	TVS and IOS overestimated myometrial invasion due to @DISEASE$, bulky intraluminal @PHENOTYPICFEATURE$, and lymphovascular invasion.	false
+7c42b2fc7ac2c9e2e341727a0dbf782420761a56	Patients with MGD or MPH presented with various degrees of sex reversal such as @DISEASE$ and/or @PHENOTYPICFEATURE$.	false
+6aead3e620da509a06f75940045ca8509f7597ad	The most frequent complaints at presentation were ambiguous genitalia, isolated perineal @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a7ace8f6ad622d85278b9735b9b0045c01c62c90	Men previously having orchidopexy for cryptorchidism related to intra-abdominal testes, @PHENOTYPICFEATURE$ and/or abnormal karyotype, and/or @DISEASE$ are of special increased risk of developing testicular cancer.	false
+209648fab4a729bad018b6239bf068326a90767d	Ninety-one patients presented with enuresis, 39 with @DISEASE$, 14 with undescended testis, 8 with asymptomatic proteinuria and 14 had other manifestations such as intersexuality, inguinoscrotal swelling, @PHENOTYPICFEATURE$, etc.	false
+5244e80b3b06f04d93ca57e44391fe5046b357a5	Clinical presentation - 9.5 year old boy presented with @DISEASE$, bilateral cryptorchidism and right inguinal hernia and @PHENOTYPICFEATURE$.	false
+71502f03ac1e1c462e55c04cafc1d968dabc1777	Prenatal ultrasound revealed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5c9cf92a6d31fd3fadad013a99565e1a747f8950	One case has @PHENOTYPICFEATURE$, another has @DISEASE$.	false
+3a3662943bd0ff515570b9cb3696c02cbb9ef114	Ring chromosome 9 in a newborn male presenting with @PHENOTYPICFEATURE$, @DISEASE$ and skeletal abnormalities.	false
+c1c5770d076b664f9eb78c48ed9d93d215327a33	He presented with mild @PHENOTYPICFEATURE$, @DISEASE$ and postnatal onset of severe growth retardation.	false
+15cbca68a041188d2ab57d5dc7278e53cf279533	A 8-month-old patient was evaluated for presenting short stature, psychomotor development delay, microcephaly, @PHENOTYPICFEATURE$, penoscrotal @DISEASE$ and thumb hypoplasia.	false
+63c8ad8163c40091550f93f3d66cbff522ace822	A 8-month-old patient was evaluated for presenting @PHENOTYPICFEATURE$, psychomotor development delay, microcephaly, facial dysmorphism, penoscrotal @DISEASE$ and thumb hypoplasia.	false
+9841e91b64fa74dd9844808b5127acdf0491e27a	@PHENOTYPICFEATURE$ @DISEASE$ under various conditions, such as disuse, denervation, fasting, aging, and various diseases.	false
+aee8a8e4bf5828dacb704b7786ee028944f26055	Over 90% of @PHENOTYPICFEATURE$ with Leishmania @DISEASE$ in the Middle East, Brazil, and Peru.	false
+aead4dd855cb7fce994c8e7035b87cf970ad7027	When epiglottic and laryngeal edema @DISEASE$, intubation or tracheostomy is preferred for maintenance of airway until the @PHENOTYPICFEATURE$ subsides.	false
+42cc0825ed52c79a004b196ed5bf09f3c235c168	After induction of hemofiltration for the hemic prime of a cardiopulmonary bypass, the initial drop in blood pressure disappears, and postoperative @PHENOTYPICFEATURE$ rarely @DISEASE$.	false
+d75bebfe29641b5a0fca4353f985a9b241a04ab9	In each model, weight gain, @PHENOTYPICFEATURE$ formation, and hyperamylasemia @DISEASE$, signifying the development of pancreatitis.	false
+e85cdb0ebc44a41bd44c74b809f3a8b735651b82	Ischemia @DISEASE$ secondary to inflammation and @PHENOTYPICFEATURE$ of the spermatic cord with compression of arterial flow.	false
+c153881a5d2d6999501efc8b2b045011c0b3e2e7	In the early stages pitting edema is seen, but with progression of disease, fibrosis @DISEASE$ and then @PHENOTYPICFEATURE$ becomes tense.	false
+1e97834ffd7e30ff560a29df4023aedcc4da09ca	In the early stages pitting @PHENOTYPICFEATURE$ is seen, but with progression of disease, fibrosis @DISEASE$ and then edema becomes tense.	false
+59fdcb9535fe06af736215b1773e08d4d0623915	As a result, heterogeneous flow pattern, red cell stasis, and @PHENOTYPICFEATURE$ @DISEASE$, which may lead to the failure of these tissues following extended HMP.	false
+1f6fe1e59ae908b8239b82e8aef7f25fc50d364b	Following radiosurgery, transient @PHENOTYPICFEATURE$ @DISEASE$ earlier than persistent and progressive edema.	false
+3daf4118e36125347edd3d1cdff5fac840825eef	Following radiosurgery, transient edema @DISEASE$ earlier than persistent and progressive @PHENOTYPICFEATURE$.	false
+158f98149993524f660f1f1073e79c52469f08b8	Tissue @PHENOTYPICFEATURE$ during severe anemia @DISEASE$ despite normal right atrial pressure, increased stroke volume, and markedly increased coronary blood flow, markers of successful cardiac adaptation.	false
+ced5944158df6938aea92024a4553538f533d8e6	In humans, Desert Hedgehog (DHH) gene mutations are a very rare cause of @DISEASE$ (GD), eventually associated with @PHENOTYPICFEATURE$.	false
+096e2884995c757e7e6f9927228d14e3dcae0482	We studied neuropathological and molecular genetic aspects of a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+4de20f7dbecbad88fa605c4126afa40385b0b038	A 7-year-old girl had @PHENOTYPICFEATURE$, hypertension, and @DISEASE$.	false
+31ccdfb211267b569876ccf41fb689f4de4facc2	[@DISEASE$ with neurosensitive @PHENOTYPICFEATURE$ (Bartter type IV).	false
+2bdb837f35d9cf9d52fb99d26281966441bc42a6	Mutations in ClC-Kb lead to Bartter's syndrome, and mutations in the associated subunit barttin produce @DISEASE$ and @PHENOTYPICFEATURE$.	false
+48e55266e62847eac3f732211601747611617c8b	Mutations in ClC-Kb lead to @DISEASE$, and mutations in the associated subunit barttin produce Bartter's syndrome and @PHENOTYPICFEATURE$.	false
+be2068fc81aa57273aba242f0a3f9fe16c6c3c8d	The neonatal variant of @DISEASE$ and @PHENOTYPICFEATURE$: preservation of renal function.	false
+8eabcebea85e7df56900ebe22e5136e70892403b	Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic @PHENOTYPICFEATURE$ or @DISEASE$.	false
+8153896195156df0508587c2a188b818795eb803	Endocochlear potential depends on Cl- channels: mechanism underlying @PHENOTYPICFEATURE$ in @DISEASE$ IV.	false
+9d0ec836f4fd9b29f8de2eaf553f02998f453896	@DISEASE$ is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, @PHENOTYPICFEATURE$ and secondary hyperaldosteronism.	false
+5a23a66d34f24517ad764d3af5043783d8c26a09	Neonatal @DISEASE$ with cholelithiasis and @PHENOTYPICFEATURE$: Rare association.	false
+ab0d6ab15c47edf0c4d6068b8cde6089f9998900	Mutations in CLC-Kb lead to @DISEASE$ and mutations in the small CLC-K subunit barttin lead to Bartter's syndrome and @PHENOTYPICFEATURE$.	false
+5a07fc02c8d2e0547bfc2b44e6348ed9d640c94d	Mutations in CLC-Kb lead to Bartter's syndrome and mutations in the small CLC-K subunit barttin lead to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ee30ebf4f97269b530038c8091f5a72621a76cef	The incidence of @PHENOTYPICFEATURE$, the exact cause of which is unknown, is lower than that of @DISEASE$.	false
+47bb73f9267ff4496c2e94704a871109cda7a1e9	@DISEASE$ is a rare @PHENOTYPICFEATURE$ often complicated by progressive cardiac disease.	false
+f848c61ee43df814642c06c48bf55dc468e8cf65	We report on two boys with facial anomalies, small hands and feet, @PHENOTYPICFEATURE$, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of @DISEASE$ (GD).	false
+b1b4bd82baf8e90dcc228d2942c81aeab32f845f	@DISEASE$ is a rare, frequently lethal condition characterized by severe short stature with progressive @PHENOTYPICFEATURE$, cardiac, pulmonary, and skin anomalies.	false
+4e0a112e215075d30ddfd84aad8b37fb27660c76	@DISEASE$ is an extremely rare acromelic @PHENOTYPICFEATURE$ resembling lysosomal storage disease.	false
+2c0998b3754cfd45090c7d6370b3fa2755d56644	@DISEASE$ is a rare @PHENOTYPICFEATURE$ characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.	false
+206972c8c08c75740e55eee2fbb3bedcbf39ca8c	@DISEASE$ is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and @PHENOTYPICFEATURE$.	false
+fe320ada61c472dfd2ad646f69cb4cfc84963f30	@DISEASE$ and Weill-Marchesani syndrome are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+2361ecddfabfcfae1a2a24d3836d72a170c1b846	Acromicric dysplasia (AD) and @DISEASE$ (GD) are rare skeletal dysplasias characterized by short stature, acromelia, @PHENOTYPICFEATURE$, hepatomegaly, hoarseness and respiratory distress.	false
+0cbcae6dcb780d226680934c7ae447ad62b29c11	@DISEASE$ (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, @PHENOTYPICFEATURE$, and a good-natured facial appearance.	false
+80debd4ac46258805514c9e67c46af5459cdddda	@DISEASE$ is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and @PHENOTYPICFEATURE$.	false
+669b7b3c417c102b2b0123c50a4e787ca2dbaa6e	A case of fatal familial intrahepatic cholestasis (@DISEASE$) developed a neuromuscular syndrome similar to that in experimental vitamin E deficiency and abetalipoproteinemia, and died of hepatic and @PHENOTYPICFEATURE$.	false
+042307169a5471625de5eae7732dcb78e8c2a487	The mechanism of cochlear disorder in patients with Byler disease is unknown, however, a novel gene responsible for @PHENOTYPICFEATURE$ might be found to be related to @DISEASE$.	false
+cd286c3b67616f1e12b4a54605d95da5c6a62560	The mechanism of cochlear disorder in patients with @DISEASE$ is unknown, however, a novel gene responsible for @PHENOTYPICFEATURE$ might be found to be related to Byler disease.	false
+7c66a3220b3ede9c8bc2de5a2b0848a890790e8e	Seventy-eight outpatients at the university hospital, Tokyo, diagnosed with Parkinson's disease, @PHENOTYPICFEATURE$, @DISEASE$, or multiple sclerosis were asked whether they had experienced pain in the preceding week.	false
+ed0a54ad822f8890e755879830b6bf90ecad8f99	We enrolled ten patients with @DISEASE$ and eleven disease controls showing @PHENOTYPICFEATURE$.	false
+16906f8dc6721fe65991216490d9ac3811a9c347	Kii ALS/PDC was divided into five clinical subtypes, pure ALS form, @DISEASE$ with dementia form, PDC with @PHENOTYPICFEATURE$ predominant form, PDC with dementia predominant form (that is called late-life dementia in Guam) and PDC with ALS features form.	false
+467f339b0b859211cd069f0f10015b7fa7fdc1e7	Kii ALS/PDC was divided into five clinical subtypes, pure ALS form, ALS with dementia form, PDC with @PHENOTYPICFEATURE$ predominant form, PDC with dementia predominant form (that is called late-life dementia in Guam) and PDC with @DISEASE$ features form.	false
+8e896c1b7c9c6cbe39561309986d176da58a503e	Kii @DISEASE$/PDC was divided into five clinical subtypes, pure ALS form, ALS with dementia form, PDC with @PHENOTYPICFEATURE$ predominant form, PDC with dementia predominant form (that is called late-life dementia in Guam) and PDC with ALS features form.	false
+349393d2030d01d10cac7b132ba84a8d1b226b6d	Kii ALS/PDC was divided into five clinical subtypes, pure @DISEASE$ form, ALS with dementia form, PDC with @PHENOTYPICFEATURE$ predominant form, PDC with dementia predominant form (that is called late-life dementia in Guam) and PDC with ALS features form.	false
+a466dacf138f5e67e79ff7fd3e5001a64af7e5d2	This review specifically focuses on MT-related ocular diseases, @PHENOTYPICFEATURE$, psychological disorders, @DISEASE$, and SMA.	false
+5fad44d8124f9a22719f58cafa633b1a1a5a0185	A 63-year-old Japanese woman with familial amyotrophic lateral sclerosis (@DISEASE$) showed cardiac hypofunction and @PHENOTYPICFEATURE$.	false
+9bbfc1085b8480a34a5af8bd345df7373ac95ec5	@DISEASE$ (ALS) is a fatal neurodegenerative disease characterized by @PHENOTYPICFEATURE$ and wasting.	false
+97f8af31088738428e0aca2fd90f37361d483845	Amyotrophic lateral sclerosis (@DISEASE$) is a fatal neurodegenerative disease characterized by @PHENOTYPICFEATURE$ and wasting.	false
+01eac023f175a8c5aa7e547a0b50327f1dcdc74e	@DISEASE$ (ALS) is a fatal neurodegenerative disease associated with motor neuron degeneration, @PHENOTYPICFEATURE$, paralysis and finally death.	false
+86b818e96bea9463514761f74dbb046113adaa3d	Amyotrophic lateral sclerosis (@DISEASE$) is a fatal neurodegenerative disease associated with motor neuron degeneration, @PHENOTYPICFEATURE$, paralysis and finally death.	false
+13532c7b8a71285c2da62a65f726f92198ce6b51	@DISEASE$ (ALS) is an insidious, @PHENOTYPICFEATURE$ neurodegenerative disease associated with a diagnostic delay of approximately 12 months.	false
+e28145b2abd54d3828148ce35001560839fa78a7	Amyotrophic lateral sclerosis (@DISEASE$) is an insidious, @PHENOTYPICFEATURE$ neurodegenerative disease associated with a diagnostic delay of approximately 12 months.	false
+d6ca69ead99bbde4eda7298a2fdbae7d1db15416	@DISEASE$ (ALS) is a neurodegenerative disease characterized by progressive limb and/or bulbar @PHENOTYPICFEATURE$ and atrophy.	false
+8deb4b843383725d6a6b1e2c57290579211e15d8	Amyotrophic lateral sclerosis (@DISEASE$) is a neurodegenerative disease characterized by progressive limb and/or bulbar @PHENOTYPICFEATURE$ and atrophy.	false
+e8d83946f4c82913d7cc6894e1f071bf366e3412	[@DISEASE$ with @PHENOTYPICFEATURE$ bodies (Lafora bodies) (author's transl)].	false
+98c1cd1f63c62ea0c649525c1fe8258935a6b37a	This combination of symptoms has not been reported previously, although there is overlap with the ulnar mammary syndrome (@DISEASE$) and with @PHENOTYPICFEATURE$, ectodermal dysplasia, and clefting syndrome.	false
+c56f9edf46269b8a17ed3784184772ec35f682cf	This combination of symptoms has not been reported previously, although there is overlap with the @DISEASE$ (UMS) and with @PHENOTYPICFEATURE$, ectodermal dysplasia, and clefting syndrome.	false
+a30b4f1fb5ff67adf07c21844ba09932febf6c2a	The present chapter describes three spontaneous chicken models for human autoimmune diseases, the Obese strain (OS) with a Hashimoto-like autoimmune thyroiditis, the University of California at Davis lines 200 and 206 (UCD-200 and -206) with a @PHENOTYPICFEATURE$-like disease, and the amelanotic Smyth line with a @DISEASE$-like syndrome (SLV).	false
+02757a4a5fee013bcdfdaeabe7e85e5a6da6ef1b	@DISEASE$ should be considered in the differential diagnosis in any children with persistent dysphagia, recurrent respiratory tract infections and @PHENOTYPICFEATURE$, including children treated for clinically suspected gastroesophageal reflux.	false
+25ec9fefcb9ddd3341470c2f605401384e4cb9a1	@DISEASE$ should be included in the differential diagnosis of children with regurgitation, @PHENOTYPICFEATURE$ and failure to thrive.	false
+b4d86782e540588ff97b8b7a942565db81363375	@PHENOTYPICFEATURE$ in the course of @DISEASE$.	false
+5332dc2567fe39d9908c01fad205995756500514	The clinical syndromes of jaundice and hepatomegaly in uncomplicated primary attacks of malaria have to be distinguished from those related to disorders like @PHENOTYPICFEATURE$, hepatic amoebiasis, @DISEASE$ hepatitis, infectious mononucleosis and Q fever.	false
+4186535558e4f8eb302d06058e1efef030bfc026	The membrane PHBs have been reported to be involved in @DISEASE$, @PHENOTYPICFEATURE$, and cancer metastasis.	false
+6a7b3d2390986860e67689f5252551991020e45d	Children with @DISEASE$ (OPG) face sequelae related to @PHENOTYPICFEATURE$ location and treatment modalities.	false
+7c5817600a70f6221428ec55825d1b1ad578408c	@PHENOTYPICFEATURE$ in @DISEASE$ is rare.	false
+8ab755b2381c9c5aec5de624d4a6846e97a1d11d	In children, the most frequently identified @PHENOTYPICFEATURE$ is the @DISEASE$.	false
+234082d5fd23a86851002dbd1e74b8ea2bde48d6	Detection of @PHENOTYPICFEATURE$ progression in @DISEASE$ with and without neurofibromatosis type 1.	false
+3c19da82dce708e7ed53d7c53065421a8decfa0f	@DISEASE$: an erratic @PHENOTYPICFEATURE$ with therapeutic dilemmas.	false
+6a9a73a86ec9c73ba1d84a9b8e37dd0c5503de91	Age at diagnosis, @PHENOTYPICFEATURE$ location and appearance, clinical symptoms, treatment, and presence of a concurrent @DISEASE$ were assessed.	false
+66843ca9ae22a4e48410ef5e5296f4c2b6a64efd	Two years later, the child developed an @DISEASE$, another @PHENOTYPICFEATURE$ frequently associated with NF1.	false
+6ad8b4897355c6b47f55b24b8428ff2853957a23	There are no consensus guidelines on the follow-up of non-@DISEASE$ (non-OPG) @PHENOTYPICFEATURE$ in NF1.	false
+775e6ff8f044639167749fd6abf43c5be49c0eec	@DISEASE$ (OPG) has an unpredictable course, with poor correlation between conventional imaging features and @PHENOTYPICFEATURE$ progression.	false
+3a6af83d4ba0816c33e7fdcfa6af4621faa85933	The most common @PHENOTYPICFEATURE$ treated with RT was low-grade glioma in 37 tumors (68.5%) of which 29 were @DISEASE$.	false
+add66857344b3c3ae6b487d9180c6365bfae637f	The most common tumor treated with RT was low-grade glioma in 37 @PHENOTYPICFEATURE$ (68.5%) of which 29 were @DISEASE$.	false
+6d7b5fa2e070e7b9ee4c6115971f4293901d5745	Lipoprotein apheresis is applied to deplete low density lipoprotein and other apolipoprotein B containing lipoproteins in patients with severe @DISEASE$, hypertriglyceridemia associated @PHENOTYPICFEATURE$, or lipoprotein (a)-hyperlipoproteinemia.	false
+b45671e776b265a2bd609b7c7cbbcad3f14070df	The patient's diagnosis was @PHENOTYPICFEATURE$ caused by mitral valve insufficiency due to congenital atrioseptal defect associated with @DISEASE$ type III (CDA III).	false
+609d36ad055c0ed8c8e4c1b7718f0adeaeb7c9b6	The case is reported of a 32 year old female with diabetes mellitus, tapeto-retinal degeneration and neurogenous @PHENOTYPICFEATURE$ combined with @DISEASE$.	false
+ac0e7f6a6efd6fdb01d8d8ebcfb61e5680c01baf	@DISEASE$ (BBS) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and @PHENOTYPICFEATURE$.	false
+c786f7ff1df6f0a391f0229aef64a04be2f26dbf	Bardet-Biedl syndrome (@DISEASE$) is an autosomal recessive multisystemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and @PHENOTYPICFEATURE$.	false
+7a2e76f826ece42bc128dfe06280e5b39c00b0e3	The @DISEASE$ is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, @PHENOTYPICFEATURE$, and renal involvement.	false
+bbdd649eaf57dff12503c7a1aa063e655f310fc0	@DISEASE$ is an autosomal recessive disorder, which includes renal dystrophy, dystrophic extremities (often polydactyly), obesity, @PHENOTYPICFEATURE$, renal disease, and mental retardation.	false
+6b8d82059436ee35af9a5ffc630020918daadf8b	@DISEASE$ is characterized by distal @PHENOTYPICFEATURE$, obesity, and renal involvement, but neurologic symptoms are very unusual.	false
+af54c06263b58cee86b4a850306d02cd62a2560d	@DISEASE$ is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, @PHENOTYPICFEATURE$, and renal disease.	false
+4740ab70fa400f89fc8bfc29a62317040cb67589	The phenotype of Bardet-Biedl syndrome (@DISEASE$) is defined by the association of retinitis pigmentosa, obesity, polydactyly, @PHENOTYPICFEATURE$, renal disease and cognitive impairement.	false
+c241b7fff6912e7f1cca323479802fac42ef34a9	The phenotype of @DISEASE$ (BBS) is defined by the association of retinitis pigmentosa, obesity, polydactyly, @PHENOTYPICFEATURE$, renal disease and cognitive impairement.	false
+feba065c0ab3f11700a2c928559352cecd1effb6	@DISEASE$ is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, @PHENOTYPICFEATURE$, intellectual impairment and varying degree of renal abnormalities.	false
+9fc3468d5f8f479a160d4f10ee1d6e78844525f0	@DISEASE$ (BBS) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and @PHENOTYPICFEATURE$.	false
+aa131f36070a30a666cbd05972c32d207844bdd8	Bardet-Biedl syndrome (@DISEASE$) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and @PHENOTYPICFEATURE$.	false
+406b8b065a8a28369b1d74f2f170cf4f18d73a0e	@DISEASE$ (BBS) is a heterogeneous multisystemic disorder characterized primarily by five cardinal features of retinal degeneration, obesity, polydactyly, @PHENOTYPICFEATURE$ and mental retardation.	false
+9b404761f92266e87616c2bba1a4a15bd96c9f96	Bardet-Biedl syndrome (@DISEASE$) is a heterogeneous multisystemic disorder characterized primarily by five cardinal features of retinal degeneration, obesity, polydactyly, @PHENOTYPICFEATURE$ and mental retardation.	false
+a405243ee772e993568fd25091da4bd98acc5aa1	The @DISEASE$ is characterized by features of familial occurrence, retinitis pigmentosa, obesity, polydactyly, @PHENOTYPICFEATURE$ and mental retardation.	false
+dec82d06c938bb2a11ef3e444f8a89522b790770	TACE treatment with STZ was very well tolerated with 10.3?% of treatments being associated with side effects, predominantly transient, including @DISEASE$/@PHENOTYPICFEATURE$, bradycardia, or postembolization syndrome.	false
+02e2c16c842cc4cafb0f37359227ac272acec489	We describe the clinical manifestations of the common, primary hyperlipoproteinemias--that is, hyper-beta-lipoproteinemia, combined hyperlipoproteinemia, @DISEASE$-pre-beta-lipoproteinemia, and sporadic @PHENOTYPICFEATURE$--and discuss the variations in lipoprotein structure and metabolism that occur in these diseases.	false
+06a2bfad6394e56c79df818061932b4e5cf0401d	[Diagnosis and therapy of familial @DISEASE$- -lipoproteinemia (familial hypercholesterolemia or familial @PHENOTYPICFEATURE$ of type II)].	false
+035b3af35c897765aa9c132e49a8ead9d3ce21f9	Novel ANO5 mutations causing @DISEASE$-CK-emia, limb girdle @PHENOTYPICFEATURE$ and Miyoshi type of muscular dystrophy.	false
+10f6d6c12975f7db12530504c00bb9dc907d22bc	Patients had mild @PHENOTYPICFEATURE$ and episodic @DISEASE$-CK-emia triggered by infections or drugs.	false
+b6078da45b78f9907a832141823bed1680a41c43	The patient was a 61-year-old woman demonstrating numbness of the extremities, sensory impairment, @PHENOTYPICFEATURE$, and tendon @DISEASE$-reflexia.	false
+c2024cde5f52e4ea646513eae599638acf0cbf63	The hepatic encephalopathy, the @DISEASE$ bilirubinemia and the @PHENOTYPICFEATURE$ are predictive of the hospital mortality.	false
+f1792ab62dea124cd73a32f731d1a48392345b5d	Hyperkalemic conditions such as @PHENOTYPICFEATURE$, pseudohyperkalemia, cortisol deficiency and @DISEASE$ were excluded.	false
+636bed3b05e6d35e9757c4890ef0722b21bed6a2	It is characterized by spasticity and @DISEASE$-reflexia of the lower extremities, urinary bladder disturbance, lower extremity @PHENOTYPICFEATURE$, and sensory disturbances.	false
+aa309fb89dc9403bf00dbb6177f01ae01c954e86	A newly recognized familial @PHENOTYPICFEATURE$, familial @DISEASE$-alpha-lipoproteinemia, is described in 18 kindreds.	false
+a9fa964b7e5c4b37c707bcf3b721fb9509ed8dfd	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and @PHENOTYPICFEATURE$ areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+983cacd33639b6e0e0a2ce961f661c08b32bedb8	@DISEASE$ (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild @PHENOTYPICFEATURE$.	false
+63e780971993dc771e6d91d09126935e827c0034	@DISEASE$ is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, @PHENOTYPICFEATURE$, and postural and thoracic wall abnormalities.	false
+141148e54e1c4fcf9ae88ca9c7781461af2fecd2	PURPOSE @DISEASE$ (SSS; MIM#184900) is a rare autosomal dominantly inherited Mendelian disorder characterised by thickened and stone-hard indurations of the skin, mild @PHENOTYPICFEATURE$, and limitation of joint mobility with flexion contractures.	false
+e240aec925c19e325471c2602d290ff0ed5b95f0	@DISEASE$ is a rare scleroderma-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild @PHENOTYPICFEATURE$ and limited joint mobility.	false
+5c67ab0d16e036181b7088cf8b41969debab248a	@DISEASE$ is a rare disorder characterized by pronounced skin induration, mild @PHENOTYPICFEATURE$ and limited joint mobility, predominantly on the buttocks and thighs.	false
+3672c7603fde318efb0dd65d7e20a5a7db4d5492	@DISEASE$ is a rare cutaneous disease, scleroderma-like disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild @PHENOTYPICFEATURE$.	false
+8c1f96659e31eb4471ffbf6bc422b8af6220756b	Both in children and in adults, iron-deficiency anemia appeared to be the most frequent extraintestinal symptom, followed by @PHENOTYPICFEATURE$ in children and cutaneous lesions of @DISEASE$ in adults.	false
+c0ee681e45e5abdc316d439ac27c09fb4b7385ae	Extraintestinal symptoms included abnormal liver enzymes, arthralgia/arthritis, @DISEASE$, alopecia, fatigue, headache, anemia, stomatitis, myalgias, psychiatric disorders, rashes, seizures, neuropathy, @PHENOTYPICFEATURE$, delayed puberty, osteoporosis, and infertility.	false
+32e45c65254be1cec3ede29225f04d7f11c75225	They include a large variety of ailments, such as @DISEASE$, anemia, @PHENOTYPICFEATURE$, osteoporosis, arthritis, neurologic problems, unexplained elevation of transaminases, and even female infertility.	false
+6286a15119c88b6d1b4e119a32434d089b883266	These serologic markers have been detected, in recent advances, new clinical presentations for coeliac disease: not only typical gastrointestinal symptoms (diarrhea, recurrent abdominal pain, etc), but many atypical symptoms have been described: sideropenic anemia, @PHENOTYPICFEATURE$, growth retardation, @DISEASE$, small alterations, alopecia, etc.	false
+9c1364b1fb74e66bdea33ebe49c357016c900335	We report on a case of @DISEASE$ in an eight-year-old boy presenting diarrhoea, @PHENOTYPICFEATURE$ and characteristic skin rash.	false
+d83784edfe993bf3abf821f6da6780db2e0dc0f9	Some of these manifestations are direct consequences of autoimmunity, such as @DISEASE$ or gluten ataxia, whereas others are indirectly related to inflammation and/or malabsorption including anaemia, osteoporosis, @PHENOTYPICFEATURE$ and delayed puberty.	false
+4a14d7f64939c17fd43522e268e4397ae63c7eb9	EI symptoms included abnormal liver enzymes, arthralgia/arthritis, @DISEASE$, alopecia, fatigue, headache, anemia, stomatitis, myalgia, psychiatric disorders, rashes, seizures, neuropathy, @PHENOTYPICFEATURE$, delayed puberty, osteoporosis, and infertility.	false
+fa43cfcb3339daa56b4802b096ec83ea16f92160	They include numerous conditions such as @DISEASE$, anemia, dental enamel hypoplasia, recurrent oral aphthae, @PHENOTYPICFEATURE$, osteoporosis, arthritis, neurologic problems, unexplained elevation of transaminase levels, and female infertility.	false
+cce7f3eb635a90314a252f7fb7bc86c14e996aec	It occurs in children and adolescents with gastrointestinal symptoms, @DISEASE$, dental enamel defects, osteoporosis, @PHENOTYPICFEATURE$, delayed puberty and persistent iron deficiency anemia and in asymptomatic individuals with type 1 diabetes, Down syndrome, Turner syndrome, Williams syndrome, selective immunoglobulin (Ig)A deficiency and first degree relatives of individuals with celiac disease.	false
+4a78066641b30b10295bb26c8a0623aba06199ce	The @DISEASE$ is associated with a wide spectrum of developmental features including facial dysmorphism, @PHENOTYPICFEATURE$, hearing loss and vesicorenal anomalies.	false
+fb28ef3cc8d3032621892addccf429978c5e1b8e	Protective Effect of Vanillic Acid against Hyperinsulinemia, @PHENOTYPICFEATURE$ and Hyperlipidemia via Alleviating @DISEASE$ Insulin Resistance and Inflammation in High-Fat Diet (HFD)-Fed Rats.	false
+0282adc311ab639c69cbd0d42da743b14729a55d	Protective Effect of Vanillic Acid against Hyperinsulinemia, Hyperglycemia and @PHENOTYPICFEATURE$ via Alleviating @DISEASE$ Insulin Resistance and Inflammation in High-Fat Diet (HFD)-Fed Rats.	false
+132fd94104bbf04bf4b4b710e50d5c686fb11594	Surprisingly, double-knockout mice (Cbp/p300-AKO) developed severe lipodystrophy along with marked @DISEASE$ steatosis, @PHENOTYPICFEATURE$ and hyperlipidemia.	false
+1f3ec74051e6273d32af34c7f830a57b907c9e2a	Surprisingly, double-knockout mice (Cbp/p300-AKO) developed severe lipodystrophy along with marked @DISEASE$ steatosis, hyperglycemia and @PHENOTYPICFEATURE$.	false
+b62ae673ea22a139f0c2680ea054a964aa0e1de5	Common biochemical abnormalities inclueded @DISEASE$ dysfunction, @PHENOTYPICFEATURE$ and hyperglobulinemia.	false
+dac979f9b25e6ee602450a325f2447909214b864	Laboratory data showed mild hypoglycaemia and @PHENOTYPICFEATURE$, @DISEASE$ dysfunction, and a low insulin-like growth factor-I level.	false
+ff708e2f626ee0b3cdcffba31743196be553e332	Laboratory data showed mild @PHENOTYPICFEATURE$ and metabolic acidosis, @DISEASE$ dysfunction, and a low insulin-like growth factor-I level.	false
+8351f71400c4055c17da58a9146e9eeb9e2cdc32	Body composition, @PHENOTYPICFEATURE$, and @DISEASE$ steatosis were assessed in each affected subject.	false
+9138e6021094ec36cc4b894db09820f0dc17bcd0	It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, @DISEASE$ steatosis, hyperlipidaemia, dilated cardiomyopathy and @PHENOTYPICFEATURE$.	false
+9035ef71e6eb5f1b4125968aad04ffd9a178d7f0	It may be associated with acanthosis nigricans, @PHENOTYPICFEATURE$, @DISEASE$ dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature.	false
+ba259f91c60734a2f5da7ac2b4d56edf8dd1a916	It may be associated with acanthosis nigricans, @PHENOTYPICFEATURE$, hepatic dysfunction, @DISEASE$ steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature.	false
+67b02c5ecb072c8d5e4bada9a34b7abd24d89dc5	It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, @DISEASE$ dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and @PHENOTYPICFEATURE$.	false
+cc2cb02f73334b553897270e1e06d4e9363a8708	We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, @DISEASE$ steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+dbaa70d3524d522f611ffe08abb0274e02bb7f76	We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, @DISEASE$ dysfunction, hepatic steatosis and @PHENOTYPICFEATURE$ with normal body weight, all of which are seen infrequently with this syndrome.	false
+1aaf806ba226493ce337ffbb0c6c765370992d27	We report a patient with Alstrom syndrome who had @PHENOTYPICFEATURE$, hepatic dysfunction, @DISEASE$ steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.	false
+a7fed0dd74b66362b08ab9a32e7aa2e6b2f2b2e5	We report a patient with Alstrom syndrome who had @PHENOTYPICFEATURE$, @DISEASE$ dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.	false
+03490558e13839cb69681b00a0b14eb9ab91e074	Patients presented with characteristic choroidal lesions, transudative ascites, profound @PHENOTYPICFEATURE$, and @DISEASE$ dysfunction.	false
+f5857d950a6609d706fa8f679c7ba0fa42aa0dac	Taken together, these findings suggest that a BRE-supplemented diet could be useful in reducing the risks of @DISEASE$ steatosis and related disorders, including hyperlipidemia and @PHENOTYPICFEATURE$.	false
+165a60239fe4739a72cec8d281f1aeb5d946056b	Taken together, these findings suggest that a BRE-supplemented diet could be useful in reducing the risks of @DISEASE$ steatosis and related disorders, including @PHENOTYPICFEATURE$ and hyperglycemia.	false
+ab1741f71c57bb811441ac599686edeb4d826d0a	They share infantile ataxia with @PHENOTYPICFEATURE$, @DISEASE$ fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate mental retardation.	false
+dba29fcc2eaaa269db643d1ae22871fb7d23a38d	Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (@DISEASE$), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently @PHENOTYPICFEATURE$, partial seizures, myoclonic jerks, or West-syndrome was reported.	false
+379255196ddb9f8ba35fbdc1b9a9278335dcdf01	@DISEASE$ has been reported to involve glandular organs inducing hypothyroidism, hypocortisolism and @PHENOTYPICFEATURE$.	false
+e762478d7790dc14d3a0bc9d9958223c5b149a52	Serious life-changing complications such as hearing loss, @PHENOTYPICFEATURE$ and @DISEASE$ resulting in kidney failure can occur.	false
+c29e46fdcac2baaa43dae5ccf789b2c8cfb46139	Muckle-Wells syndrome (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, @PHENOTYPICFEATURE$, arthralgia, sensorineural deafness, and the possible development of systemic @DISEASE$.	false
+37ee409a6cbec73776d575bf3782d9247f19d2cc	In familial Mediterranean fever (FMF), a genetically inherited disease characterized by @PHENOTYPICFEATURE$ and serositis, renal involvement is mainly @DISEASE$.	false
+72180eb740ac3ca17c7ecdb2df86f3a822c76ce7	[Common-variable @PHENOTYPICFEATURE$ with @DISEASE$.	false
+947cb5073f909b6b9179ce8d451eadddd9c75530	Father and daughter of family A had attacks of @PHENOTYPICFEATURE$, abdominal pain and @DISEASE$.	false
+f348b0eae6269dbb8dc5415b1254cac519338044	The paper describes a clinical case of congenital cardiomyopathy (@PHENOTYPICFEATURE$) concurrent with @DISEASE$ and renal involvement that develops at the outcome of long existing brochoectatic disease.	false
+f3c4e0397c6678a8926fe4e4c5351f46aca6c056	Since the patient had recurrent infections, @PHENOTYPICFEATURE$, nephrotic range proteinuria, and enlarged kidneys in the renal USG, she was thought to have type @DISEASE$ and therefore underwent a renal biopsy.	false
+be351a0faa079b0cadad7f42893e3b3892a3e759	This disorder is characterized by @PHENOTYPICFEATURE$ and some painful attacks such as abdominal, chest or joint pain and potentially development of @DISEASE$.	false
+0ab1a649a7e390e1a0a67d13446539426527ad14	Except of the severe alteration of quality of life related mainly to the rash, @PHENOTYPICFEATURE$ and pain, complications include severe inflammatory anemia and @DISEASE$.	false
+36223b6acc4f4e1649f44022374d0ecbb64fef10	Affected individuals may have higher risk of: neural tube defects, cleft lip and palate, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5996fad2f695d6b1436d6fc7d03efae10616b9b6	Associated features include hypoplasia of @PHENOTYPICFEATURE$ cellular immunity, deficient erythrogenesis, increased risk of malignancies, @DISEASE$, and Diamond-Blackfan type hypoplastic anaemia.	false
+506c20afcb5e986bea995f1a2c8e54bb41b0c52b	A consanguineous family with @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation (Goldberg-Shprintzen syndrome).	false
+d8e476025141c419d66cf2e85c46e82c90a571d5	Congenital @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5089c9fe3db5137738200335c1613cf578db3d61	@DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family.	false
+50866979c7095ae4bab21c0822e978df398ac1d4	MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, @PHENOTYPICFEATURE$, congenital heart defects and @DISEASE$.	false
+a96f05df7ecde0826383d96ca7147931cca8f344	A 5-week-old male patient was seen for symptoms suggestive of @DISEASE$ (abdominal distension, @PHENOTYPICFEATURE$, and explosive defecation).	false
+e4be2ae8da22e26980f6b7b6a130c59696dca735	We report an 8-month-old girl with extreme @PHENOTYPICFEATURE$, lissencephaly, tetralogy of Fallot and @DISEASE$.	false
+8ae42a2501b228fda4b3f4a37b03ef6ada3e2211	The syndrome of @DISEASE$, @PHENOTYPICFEATURE$, unusual face, and mental retardation.	false
+b8ed2456b8169152b458be2383dc2d3c925f0a9d	Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (@DISEASE$, @PHENOTYPICFEATURE$, and iris coloboma)	false
+ea3e3b3a35fd8a974213addada75b2232f6fdd38	@DISEASE$ RD is epidemic, highly active, with pronounced @PHENOTYPICFEATURE$ syndrome and a more favourable prognosis.	false
+d3594a63425c846999221f57d2b2e3d2136b3359	Neutropenic @DISEASE$ (NE) must be recognized in patients with @PHENOTYPICFEATURE$, neutropenia, and abdominal pain.	false
+c548a9667c7c303df324b35e80c4c8904cb8022c	Neutropenic @DISEASE$ is a common complication, generally occurring in patients who are severely neutropenic; the condition presents with @PHENOTYPICFEATURE$ and abdominal pain.	false
+8fe7632f571327505c226118071785d452b5b913	Neutropenic @DISEASE$ should be considered as a treatable cause of @PHENOTYPICFEATURE$ and abdominal pain in patients with AIDS.	false
+b8fbb21e647767e1b0bda3592ab7091108906859	Neutropenic @DISEASE$ (NE) is characterized by @PHENOTYPICFEATURE$, abdominal pain, and neutropenia.	false
+2c568eeb621b682c5c35bef11fdb53095648731f	Here we report a case of a 59-year-old man who developed neutropenic @DISEASE$(NE)after autologous peripheral blood stem cell transplantation for non-Hodgkin's lymphoma in his second complete remission.Four days after transplantation, the patient suffered from diarrhea, abdominal pain, @PHENOTYPICFEATURE$, and paralytic ileus.Abdominal computerized tomography scan revealed bowel wall thickening consistent with NE.Owing to his poor performance status, only medical management, including antibiotics and bowel rest, was administered, and the patient died 18 days after transplantation.Although NE after autologous peripheral blood stem cell transplantation is a relatively rare complication, it is important to be aware that this condition can occur as one of the early complications in stem cell transplantation.	false
+16e9f62a7a73230056035404ea9e263555650f30	Though Y. enterocolitica sepsis is rare in Taiwan, clinicians should be aware of its tendency to develop in patients with Cooley's anemia, @PHENOTYPICFEATURE$ and @DISEASE$ and that its clinical course may include sepsis leading to shock.	false
+c5ab2dc8f352a32bce9d60c9246c9aebd083386f	The 11 cases included 3 diabetes patients, 2 patients with interstitial @PHENOTYPICFEATURE$, 1 patient with @DISEASE$, and 1 patient with old pulmonary tuberculosis.	false
+8372e96be6984d2df1d806e514b890e4108a3909	Open lung biopsy was performed for the differential diagnosis of hypersensitivity, @DISEASE$, and @PHENOTYPICFEATURE$, because neither transbronchial lung biopsy nor broncho-alveolar lavage was diagnostic.	false
+0aaec7858eeb48762a07cda0361161825cf1467a	Associated conditions include @PHENOTYPICFEATURE$ disease, choledochal cysts, and @DISEASE$.	false
+5a8edcfb8e756de58d930509c3a04e26e4716451	In this article we report a newborn infant diagnosed with @DISEASE$ who developed a femoral fracture possibly due to @PHENOTYPICFEATURE$ and birth injury in spite of cesarean delivery.	false
+95db5a053846682d412343f3ab53e830dd8b8167	As his liver metastasis was well outside of the SBRT fields, the spontaneous resolution of his liver metastasis presents clinical evidence of the abscopal effect of @DISEASE$ in response to SBRT to his @PHENOTYPICFEATURE$.	false
+870de921db9e35fb0095a237081ff01d5ddc9295	It is usually difficult to differentiate from @PHENOTYPICFEATURE$ (HCC), peripheral-type @DISEASE$ (CCC), combined HCC-CCC, and liver metastases.	false
+ebe6179b0f9fbd591050fb42044bc98b839abff6	derived from breast and @PHENOTYPICFEATURE$, leukemia, lymphoma, osteosarcoma melanoma, @DISEASE$, and hepatoma.	false
+8aeb6c23d9fb88ff320cf67540864f8560ce7e13	Given the expected worse prognosis of the metastatic @DISEASE$, after review of his case in provincial gastrointestinal and @PHENOTYPICFEATURE$ boards, he was treated with eight cycles of palliative gemcitabine and cisplatin chemotherapy.	false
+0a68b50c2413e6253fa92d08040745523c418ee7	Combined hepatocellular carcinoma and cholangiocarcinoma is a rare type of primary hepatic malignancy containing features of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3ae3ef93c52fe8d6fc57f4518d490a2c63309ad3	Other conditions such as choledochal cyst and @PHENOTYPICFEATURE$ disease are frequently associated, and patients have a higher risk for the development of @DISEASE$.	false
+ede70e2b5f4ba03cefa01845bddaec013274c2f4	Among 3620 patients, 480 had normal liver parenchyma, 494 had focal solid liver lesions (metastases?=?259; hepatocellular carcinoma?=?99; hemangioma?=?78; abscess?=?32; and @DISEASE$?=?26), and 488 had @PHENOTYPICFEATURE$.	false
+024f484726528558a78d846f0eba1199e2103c60	A 70-year-old male with an unresectable @DISEASE$ with an associated 5 cm liver metastasis was found during his staging investigations to have a 1.8 cm right upper lobe @PHENOTYPICFEATURE$.	false
+6e0959cd34982f7ed48b0745493f25195704631a	This is the first case of a limited form of systemic sclerosis (ISSc) associated with acute @PHENOTYPICFEATURE$ (CHF) and @DISEASE$ (PBC).	false
+5b34ecaff7b1daf6c596626171a8f7377ea720b5	This report concerns a 65-year-old woman with @DISEASE$ (PBC) featuring high titers of M2 antimitochondrial antibody who developed intractable @PHENOTYPICFEATURE$ (HF).	false
+fae9dd6d2cb2d083bdcb37603873694a4fcd497f	Acute right @PHENOTYPICFEATURE$ and achalasia-like syndrome in a patient with limited cutaneous systemic sclerosis and @DISEASE$.	false
+6e6bfe94bdadb08b83dd98dcfe2c7b1473afe44a	We report a case of a 63-year-old woman who developed acute right @PHENOTYPICFEATURE$ and an achalasia-like syndrome with limited cutaneous systemic sclerosis (lcSSc) and @DISEASE$.	false
+6319d11b6fd30464215687c5990d82340da3ae4d	An extensive evaluation revealed evidence of @DISEASE$ (PBC), celiac disease, and small intestinal bacterial @PHENOTYPICFEATURE$.	false
+f6be41507bd5e3a15fe176c3f9aac29b6875efb3	Recent MRI studies have confirmed the presence of @PHENOTYPICFEATURE$ in noncirrhotic @DISEASE$ patients.	false
+688ed761c94b2c111653980093856e318843998b	Eight patients had biochemical steatorrhoea, but in six this was associated with intestinal bacterial @PHENOTYPICFEATURE$ and a seventh had @DISEASE$.	false
+76a8f76e0e5882c2cfa25c32d74e9d04d26ee847	A 60-year-old woman with systemic sclerosis, lung fibrosis, and @DISEASE$ was admitted to our hospital because of @PHENOTYPICFEATURE$.	false
+cf30ddb93e10f20261991c1f75d945799f509caa	Both diabetes and obesity were significantly more common in the cryptogenic cirrhotic patients compared with the cirrhotic patients with @DISEASE$ or hepatitis C. In contrast, the prevalence of @PHENOTYPICFEATURE$ and diabetes was similar to the NASH patients who were, on average, a decade younger.	false
+1fd4ac463b6e58dc5deafae895934bbaf30772af	Both diabetes and @PHENOTYPICFEATURE$ were significantly more common in the cryptogenic cirrhotic patients compared with the cirrhotic patients with @DISEASE$ or hepatitis C. In contrast, the prevalence of obesity and diabetes was similar to the NASH patients who were, on average, a decade younger.	false
+5b3b76a32e6fdc545ee7557c87149010dab4d585	The role of any metabolic conditions (@PHENOTYPICFEATURE$, hypertension, diabetes) in association with @DISEASE$ has not been analyzed, however.	false
+b985a3911437984fc41e344c2ad9feaf3bd1c0d9	Three patients with classical TN and GPN and 15 patients with atypical facial @PHENOTYPICFEATURE$ (@DISEASE$) were treated.	false
+d97b00ed4fbf6852d820fc342859a0b2bb30ca2a	This article highlights several refractory oral diseases, such as stomatitis, burning mouth syndrome (BMS), glossalgia, atypical facial @PHENOTYPICFEATURE$ (@DISEASE$), oral cancer, dry mouth, and Sj?gren's syndrome (SJS), in which use of Japanese herbal medicines, Kampo medicines (KM), on the basis of Kampo theory could exert the maximum effects on human body.	false
+1c658b9b00b99e25494cbb71c734e68a1f7f96c9	Craniofacial pain, including trigeminal neuralgia, trigeminal neuropathic @PHENOTYPICFEATURE$, and @DISEASE$, is difficult to treat and can have severe implications for suffering in patients afflicted with these conditions.	false
+cb14c073bc3b271492afa7d0988258968b845760	Craniofacial @PHENOTYPICFEATURE$, including trigeminal neuralgia, trigeminal neuropathic pain, and @DISEASE$, is difficult to treat and can have severe implications for suffering in patients afflicted with these conditions.	false
+664247b6f0361bf64177a39b398d9a34633381db	The analgesic properties of salmon calcitonin for the treatment of atypical facial @PHENOTYPICFEATURE$ (@DISEASE$) were investigated.	false
+4d3452fd90e04257493edb6f527f48b95f4a9827	Classical trigeminal neuralgias and @DISEASE$ were two most common diagnoses in the painful cranial neuropathies and other facial @PHENOTYPICFEATURE$ groups.	false
+47e5df41ad28bb6d43ba9c75c0069d448c72e35a	Significance maps of pain processing were generated and compared in each group and contrasted with results obtained in a group of patients with atypical facial @PHENOTYPICFEATURE$ (@DISEASE$) that have been previously published.	false
+a2450169ff8c66be85f0ee9f8f5383bd811e1e7b	Autosomal recessive Peters anomaly, typical facial appearance, @PHENOTYPICFEATURE$, hydrocephalus, and other anomalies: further delineation of the @DISEASE$.	false
+53e7d0baa5ca8188adb42cae6f1010b89b8f0df6	@DISEASE$ is a rare recessive autosomal disorder comprising @PHENOTYPICFEATURE$, short stature, hand abnormalities and distinctive facial features.	false
+8131d6f091b42f9262dfd2df782d587e24d523ee	@DISEASE$ is an autosomal recessive rare disorder comprising @PHENOTYPICFEATURE$, short stature, hand abnormalities, distinctive facial features, and often other major/minor additional defects.	false
+117fa2cca8cdf90f21e89b25ef4b405941536e22	@DISEASE$ comprises @PHENOTYPICFEATURE$ (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+dcd1068b3a09ce511a70f006775c46ae4cfdecbe	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (@DISEASE$).	false
+1b6f6496c801b0e6ae508c28f86310e2e1d8457b	Some male patients have additional features including brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (@DISEASE$) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (BRESHECK syndrome).	false
+b96e31b47deadde8aebcf7fffe0f75617599b920	Since all patients with BRESEK/@DISEASE$ are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/BRESHECK syndrome such as @PHENOTYPICFEATURE$, vertebral and renal anomalies, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation.	false
+aa71f76f9102f85c4fce84ca019d413754265f69	Since all patients with BRESEK/BRESHECK syndrome are male, and X-linked syndrome of ichthyosis follicularis with atrichia and photophobia is sometimes associated with several features of BRESEK/@DISEASE$ such as @PHENOTYPICFEATURE$, vertebral and renal anomalies, and Hirschsprung disease, we analyzed the causal gene of ichthyosis follicularis with atrichia and photophobia syndrome, MBTPS2, in the present patient and identified an p.Arg429His mutation.	false
+d8f6b0b4edd235e74378740bc7b17adfae7a9f5e	BRESEK/@DISEASE$ is a multiple congenital malformation characterized by brain anomalies, @PHENOTYPICFEATURE$, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism.	false
+3a1f57bfd5420e9741f4f085c8b1daed1bdd9d1a	The unique skeletal features are distinguished by a @PHENOTYPICFEATURE$, @DISEASE$, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints.	false
+0e4d480b77038bdf9837e619a20dd7756b03c3c3	She had cranial nerves dysfunction, gastroesophageal reflux, history of a seizure, @PHENOTYPICFEATURE$, developmental delays, head sparing failure to thrive, and minor malformations including distinctive facial features and a @DISEASE$.	false
+da95772e4b5168a794c44d25d2d97c5c5cade45e	She had cranial nerves dysfunction, gastroesophageal reflux, history of a @PHENOTYPICFEATURE$, ataxia, developmental delays, head sparing failure to thrive, and minor malformations including distinctive facial features and a @DISEASE$.	false
+477d016273df2ce013708f2797e8caaeeb1a8bec	Mutations in the transforming growth factor beta receptor type I and II genes (TGFBR1 and TGFBR2) cause Loeys-Dietz syndrome (LDS), characterised by thoracic aortic aneurysms and dissections (TAAD), aneurysms and dissections of other arteries, craniosynostosis, cleft palate/@DISEASE$, hypertelorism, congenital heart defects, arterial tortuosity, and @PHENOTYPICFEATURE$.	false
+0b46a263215b22a8cd3310c4ffb6425a3aac20eb	One also had @PHENOTYPICFEATURE$, an unusual facial appearance, cleft palate with @DISEASE$, and gingival hyperplasia.	false
+328d232a5df044aba31e8b39d83fc7679a7fe3ab	They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), @PHENOTYPICFEATURE$ (5/20), cleft lip or palate or @DISEASE$ (3/20), and minor skeletal anomalies.	false
+399116d94d7c03ca60c8fb9e44e5f403a27ae5d4	We report the first case of an 8-year-old Colombian girl of mixed race ancestry (Mestizo), with clinical features that include: delayed psychomotor and language development, @PHENOTYPICFEATURE$, upward slanting palpebral fissures, divergent strabismus, low-set and rotated ears, tall and broad nasal bridge, flat philtrum, @DISEASE$, posterior cleft palate, increased anteroposterior diameter of her chest, congenital heart defect type interventricular communication, scoliosis, and umbilical hernia.	false
+ffb5e91240d350dc0bfea139f5cb7175cacdb31f	A female infant was classified as having oral-facial-digital syndrome (OFDS) type 1, with oral (cleft palate, @DISEASE$, lingual cleft, numerous hypertrophic frenula), facial (numerous milia on face, scalp, and ears; frontal bossing; hypertelorism; hypoplasia of nasal alar cartilage; micrognathia), and digital (bilateral @PHENOTYPICFEATURE$ of hands) symptoms.	false
+2730d697490586113a820362e5403a7d1570afa5	Investigations revealed coronal craniosynostosis, @DISEASE$ and @PHENOTYPICFEATURE$ of the hands and feet.	false
+996fc57b94ae77be0dd3007e5cc15097cf4fe666	Megalocornea-@PHENOTYPICFEATURE$ (MMR or Neuhauser) syndrome: another case associated with cerebral cortical atrophy and @DISEASE$.	false
+ec1c319bcaed1e7f13a190ea90008886edbd9cd2	The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or @DISEASE$ (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and @PHENOTYPICFEATURE$ (38%).	false
+b42f32812dc798b365692ef583af540c3519a03d	Three cases received amniocentesis due to increased nuchal translucency (INT), high risk for @DISEASE$, and INT combined @PHENOTYPICFEATURE$ (IUGR), respectively.	false
+4e758cf73d1f7ee77381424ad041d69eedfe2ad8	Reports state that @DISEASE$ (DS) patients with congenitally normal hearts might experience the development of @PHENOTYPICFEATURE$ such as cardiac autonomic dysfunction, valvular lesions, bradycardia, and atrioventricular block.	false
+7d2b8c0755341611141e5ba6b6a4bf27a60871e2	Reports state that @DISEASE$ (DS) patients with congenitally normal hearts might experience the development of cardiac abnormalities such as cardiac @PHENOTYPICFEATURE$, valvular lesions, bradycardia, and atrioventricular block.	false
+e7c95de3370f764472b5e0eebb1434207a29b8c4	The low energy absorption in the presence of normal tympanograms in children with @DISEASE$ may suggest @PHENOTYPICFEATURE$.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+5db074986e7dfd22b4dd0c2edd688571b43bec45	@PHENOTYPICFEATURE$ in @DISEASE$: spectrum, management and survival over 22 years.	false
+4bd3176284349c3391842bc693a2abc851f093ff	@PHENOTYPICFEATURE$, bronchopulmonary dysplasia, congenital heart disease, and @DISEASE$ are risk factors for high mortality and prolonged morbidity after RSV infection.	false
+51035ff6b48bf26c82da1392caf058ee8ff1918a	A very rare cancer in @DISEASE$: @PHENOTYPICFEATURE$.	false
+11abf7afbe1c716493c74d1de44fbce6d0814837	They were NTD, @PHENOTYPICFEATURE$ (OC), and @DISEASE$ (DS).	false
+332ff971e1a51025fcc014acfb1c172412e26137	Enlarged vestibular aqueducts and other @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+024606fd6179aac4ad2a3a25895d5f67733b211f	Echocardiographic evaluation of cardiac @PHENOTYPICFEATURE$ in adults with @DISEASE$.	false
+a4992e08f6a1dc363f70ceead7c6c703a08b5ac3	We report on a 5-year-old boy of Austrian origin who manifests progressive joint limitations in connection with a dysplastic form of @PHENOTYPICFEATURE$ namely @DISEASE$.	false
+b8a4e0d5ced4a6c2e8bbcce13f5190b34b77df45	@PHENOTYPICFEATURE$ are frequent in boys with @DISEASE$ and are strongly associated with immobility.	false
+0a44bc0dd7af2227456cb0d2edfc292bdeb26af2	Results showed that key elements of the care stress model in parents of @DISEASE$ children prior to joining a support group included: (1) recognition of the factors underlying the changes in their child's health condition (incomprehension, inference, rationalization, and acceptance of mutation and sexual heredity); (2) special assistance needs such as barrier-free facilities, government/social assistance (role substitution, coordination, and long-term care) and medical information (on treating disease causes, psychological adjustment, rehabilitation, and the welfare system); and (3) strains (physical, psychological, @PHENOTYPICFEATURE$, and feelings of powerlessness).	false
+26cffdf0929dfcf65a3bdb670198bbb4becd009d	In paediatric @DISEASE$, @PHENOTYPICFEATURE$ symptoms and depressive symptoms are potentially modifiable factors associated with fatigue, warranting additional investigation to facilitate the development of therapeutic strategies to reduce fatigue.	false
+5a55d43591344eca57481a278494c60dd8d31e6c	@PHENOTYPICFEATURE$ and depressive symptoms are significantly associated with fatigue in paediatric @DISEASE$.	false
+366bfd0557998731ab8daf43cc0c629ef18adb7f	These disorders are seen primarily in males, who manifest the phenotypic effects of the deletion of the loci of various combinations of adjacent genes: @DISEASE$, glycerol kinase deficiency, adrenal hypoplasia, optic @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism and anosmia (Kallman syndrome), chondrodysplasia punctata and ichthyosis.	false
+e63251129c658d742e6aab71de62dddc0a5c82a8	The patient was admitted with @PHENOTYPICFEATURE$ of both legs, and the nephrotic syndrome was discovered, leading to the diagnosis of @DISEASE$ on kidney biopsy.	false
+7989cf58c21102cda4c300e27d1b2f6523c1a0dc	@DISEASE$ remains a serious complication of both Crohn's disease and @PHENOTYPICFEATURE$, and is characterized by proteinuric renal dysfunction that may resolve following suppression of inflammatory activity.	false
+e5a3af4e7909f7ea3e9412484b69547368e95433	A chronic inflammatory syndrome, secondary to recurrent @PHENOTYPICFEATURE$, may be the cause of @DISEASE$, with chronic renal failure, involving life prognosis.	false
+b4918605825b8670ce377ad22eeed5cd47bb4105	Autopsy findings showed massive, whole-body @PHENOTYPICFEATURE$ and mixed systemic amyloidosis (dialysis-related and @DISEASE$).	false
+6a98ea76905e065e7969aa8de9f6663cd37329fa	Among the 23 patients with @DISEASE$, after six months of treatment with colchicine, the proteinuria improved, serum albumin level increased and @PHENOTYPICFEATURE$ disappeared in 13 patients.	false
+464dc4def63d36d61e1d053883260e34d2f4fec9	A patient with @DISEASE$ presented with @PHENOTYPICFEATURE$, leukocytosis, and increased acute phase reactants.	false
+4cb03756566b4f6c081db022222a0f721be688f0	In conclusion, our patient presented with a functional @DISEASE$, with hyperandrogenism associated with hypoinsulinemic @PHENOTYPICFEATURE$ and blockage of the GH-IGF-I axis.	false
+9a9cecf8cfe08bd8035d4ad40feb22ad0607c496	A 7-year-old boy presented with a change in behavior, poor attention, @PHENOTYPICFEATURE$, and abnormal movements 15 months after undergoing transplantation for @DISEASE$.	false
+e3cf477ad561733686806ed6e3c41d187faff7c8	His past medical history was significant for hypertension, diabetes mellitus, @PHENOTYPICFEATURE$, gastroesophageal reflux disease, @DISEASE$, arthritis, impotence, and pancreatic cancer that required excision of part of his pancreas.	false
+bbc829c03c2db1e7942f974e223682c43b598297	Transurethral @PHENOTYPICFEATURE$ is a new, simple, noninvasive, and well-tolerated method for the treatment of @DISEASE$.	false
+0175cd3d100c6759144bf04e4998cd96f3652333	A 75-year-old male with a 13-year history of progressive AD, asymptomatic bipolar disorder, chronic kidney disease, hypertension, @PHENOTYPICFEATURE$, and @DISEASE$ presented to the ED with recurrent/escalating violence toward his wife, whom he considered an impostor.	false
+9039e9fa99e9911f4c583a02ce0dcd81ea5620e3	Transrectal @PHENOTYPICFEATURE$, transurethral thermotherapy, prostatic stent, and prostatic spiral were used to treat 120 poor operative risk patients with symptomatic @DISEASE$.	false
+26f4cc672ab032da5a0d5a8abdd7532572c4b7cf	A group of 133 patients with @DISEASE$ who were either poor operative risks or who had refused surgery underwent localised deep microwave @PHENOTYPICFEATURE$, without supplementary drugs.	false
+57eb9bafb2ce6181355f49c98f00761d52cfed81	Many types of nonsurgical therapy, including balloon dilation, @PHENOTYPICFEATURE$, adrenergic blockade, and hormonal therapy, have been used for the treatment of @DISEASE$ (BPH).	false
+3af95073229cbdb877bc27547247f5f8e288e0c0	A number of new treatment modalities for @DISEASE$ (BPH) have been introduced in these days: for example, laser ablation, alpha-adrenergic blocker, antiandrogens, @PHENOTYPICFEATURE$, stenting and balloon dilation.	false
+9631f41ef0586f086d0165ec4118ddf575e6fcf3	@PHENOTYPICFEATURE$ and thermotherapy of @DISEASE$: a critical review.	false
+0d35686ea075e9a8f57a87437db8d95ec82ba500	The variables analyzed in this report included race, age, body mass index (BMI), ED etiology, ED severity, ED duration, smoking, prior sildenafil use, presence of comorbid conditions (diabetes mellitus, hypertension, cardiovascular disease, @PHENOTYPICFEATURE$, depression, @DISEASE$), and treatment with antihypertensives or antidepressants.	false
+7b981ab98dfe36eea09dc9e38f77aa0b36b404d6	In this study local hyperthermia was induced in evaluable 33 cases with @DISEASE$ using Primus, and the effectiveness of this modality of treatment was investigated by analysing the subjective and objective response following @PHENOTYPICFEATURE$.	false
+e66d24c4fc5e28cda898d0b958482d99afc51134	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, @DISEASE$ (spondylocostal dysostosis), lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and @PHENOTYPICFEATURE$.	false
+2f983976fbccb6ce5885d6612357bf023632ff4c	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (@DISEASE$), lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and @PHENOTYPICFEATURE$.	false
+f9454d309d15cf233fe8e5ae55161e5af59f5ef1	Initiation of beta blockers in four patients was associated with further deterioration in haemodynamic status, labile blood pressure and @PHENOTYPICFEATURE$, which led to the diagnosis of the underlying @DISEASE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+1d2b57c47338bf6eb962a58ac83e15338e402bef	The aim of this study was to assess the efficacy of the Mediterranean style diet (@DISEASE$) to decrease cardiovascular risk factors in children and adolescents with @PHENOTYPICFEATURE$.	false
+69090083bf5b33ec9608d8372916c8a36516dd3f	HR for stable @PHENOTYPICFEATURE$ was 2.28 (95% CI 1.69, 3.08) for DP due to @DISEASE$, and 1.91 (95% CI 1.56, 2.34) for general DP in the fully adjusted models.	false
+01537ae6869bd471a157dca8d67c59b30db10088	Risk of MSD absence from low back and non-low back disorders was significantly associated with physically demanding job, overweight/@PHENOTYPICFEATURE$, prior absence from @DISEASE$, and absence from cardiovascular, respiratory, or mental illness, or accidents during the study period.	false
+f7a9f4bdb5b785d5e1369e7127b18cf26f720664	Risk of @DISEASE$ absence from low back and non-low back disorders was significantly associated with physically demanding job, overweight/@PHENOTYPICFEATURE$, prior absence from MSD, and absence from cardiovascular, respiratory, or mental illness, or accidents during the study period.	false
+e5a294b73d80827b01cf8e9f7c1c9123943023d5	In addition to factors including age, @PHENOTYPICFEATURE$ and level of education, dietary habits and geographic difference might also play an important role in the variation of PV, LUTS and @DISEASE$ for Chinese men with LUTS/BPH.	false
+f8c6355f0b0834eac34f1025c1dd507817c2ab56	Among seven patients who died during follow-up (five of @PHENOTYPICFEATURE$, one sudden death, and one non-cardiac death), five had LD and two had @DISEASE$.	false
+68c8cf783bfb48037c2f44eda1876490f037e417	The relations between these indexes and musculoskeletal disorders (@DISEASE$) were studied after adjustment for potential confounders such as age, @PHENOTYPICFEATURE$, number of children, travel duration, sport practice, occupational level, number of years in the occupation, previous attack of back pain, and mental health (assessed by the score to the general health questionnaire).	false
+2f2e0def4f4776b89789022becdaf05bfba4d734	Obesity in combination with a higher physical workload increased the risk of disability benefits (RERI 0.28) more than the sum of the risks of @PHENOTYPICFEATURE$ and higher physical workload, particularly for @DISEASE$ (RERI 0.44).	false
+1737d9366d00882b2ec2a87ad43889f80b8ca5b4	Angiomatoid fibrous histiocytoma (@DISEASE$) is a rare soft tissue @PHENOTYPICFEATURE$ with intermediate malignant potential.	false
+f3ff85306789b81712e68dfdf53b1437f0e9d5f0	Angiomatoid fibrous histiocytoma (@DISEASE$) is a rare soft-tissue @PHENOTYPICFEATURE$ of uncertain differentiation and low metastatic potential.	false
+bb2a581b3b61df0540b65c3fe71bf6d483badc3b	This article reports a case of angiomatoid fibrous histiocytoma (@DISEASE$), a rare fibrous tissue @PHENOTYPICFEATURE$ with unique clinical characteristics.	false
+28d2182eb49223b5a9f41ea2c0645f9bec872f16	@DISEASE$ (AFH) is a distinctive @PHENOTYPICFEATURE$ in children, adolescent and young adults which is slow growing with metastatic potential.	false
+ec5cc1004b26b3d5d9a20f0897a0aabf99f37bba	Angiomatoid Fibrous Histiocytoma (@DISEASE$) is a distinctive @PHENOTYPICFEATURE$ in children, adolescent and young adults which is slow growing with metastatic potential.	false
+6c7e7e6a26bc3470f6cb5bda4046b17ce441c902	The differential diagnosis of @DISEASE$, a @PHENOTYPICFEATURE$ with clinical and morphologic similarities, is discussed.	false
+89d637ecf64186351f5c6bd56f1207abfbb7f170	Angiomatoid fibrous histiocytoma (@DISEASE$) is a slowly progressing rare soft-tissue @PHENOTYPICFEATURE$ of moderate malignant potential.	false
+4b687c97127b593b40129fed157ae304bf97c0ce	Angiomatoid fibrous histiocytoma (@DISEASE$) is a @PHENOTYPICFEATURE$ primarily occurring in the extremities which can very rarely occur as an isolated intracranial lesion.	false
+8271a968477adc891d997f6b82febc0e4ba3e335	Importantly, cases of AFH can be missed if RT-PCR is not performed in conjunction with FISH, and RT-PCR has the added advantage of specificity, which is crucial, as EWSR1 rearrangements are present in a variety of @PHENOTYPICFEATURE$ in the histologic differential diagnosis of @DISEASE$, that differ in behavior and treatment.	false
+3624a950ded7486d1e44977828192e48d90477b6	Importantly, cases of @DISEASE$ can be missed if RT-PCR is not performed in conjunction with FISH, and RT-PCR has the added advantage of specificity, which is crucial, as EWSR1 rearrangements are present in a variety of @PHENOTYPICFEATURE$ in the histologic differential diagnosis of AFH, that differ in behavior and treatment.	false
+28e7770ea7c7d05ca52120ae50f13a78fb0400d2	We describe a patient with an @DISEASE$ that presented as a pigmented nodule on the foot and discuss clinical recognition and histological differentiation from other @PHENOTYPICFEATURE$.	false
+2137461ee13ac684ff02054d18a6e42d8efd00cd	If subcutaneous @PHENOTYPICFEATURE$ in the iliac region are detected, a diagnosis of @DISEASE$ should be considered and a simple resection avoided.	false
+6ca1e0f7a98867c2efc083604f82eb529f9832c5	A 15 year old boy with immature teratoma of the pineal region, showing several draining veins around the vascular-@DISEASE$ tumour, presented transient @PHENOTYPICFEATURE$, diplopia and partial impairment of bilateral visual acuity postoperatively because of localised cortical brain and venous damage.	false
+499a5c178c9dfc7cb1c237d388b92f9df134f2ad	As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of @PHENOTYPICFEATURE$, coloboma, cataract and kyphosis (@DISEASE$, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	false
+cfc4aa82ad5c376c1b6ee03e636fc84f3ab0871b	In this report, we describe two male siblings with @DISEASE$ who had cholestatic jaundice, arthrogryposis multiplex congenital-like @PHENOTYPICFEATURE$ and renal involvement with additional clinical features.	false
+1708b137d8ac455539c66c9f9960630f11bc456a	We present a case of @DISEASE$ in an infant with a history of failure to thrive, early @PHENOTYPICFEATURE$ and RTA.	false
+6a2ee6d5e76f3c5fc4b82e473a2e9e557dba4c40	Primary retinal telangiectasis or @DISEASE$ is a non-hereditary retinal @PHENOTYPICFEATURE$ consisting of incompetent telangiectatic and aneurysmal retinal vessels.	false
+9d50187772f9d39cd42430a51ff11e83a2cb35be	To measure peripheral nonperfusion and describe bilateral @PHENOTYPICFEATURE$ in patients with @DISEASE$, emphasizing subtle findings in the contralateral eyes of patients diagnosed with unilateral disease.	false
+48ced310bef4c4ba573d266e1a91e412defe403d	Severe fascioscapulohumeral muscular dystrophy presenting with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fd06ca814500a52500099e8d081f1c397703be8a	To investigate the associations of cytokine concentrations in aqueous humour with the severity of retinal @PHENOTYPICFEATURE$, exudation and fibrosis in patients with @DISEASE$.	false
+8325ee7e2d5a0c55552259e8f8ff09baac6b9167	We describe two Norwegian children with fascioscapulohumeral muscular dystrophy in whom @DISEASE$, deafness, @PHENOTYPICFEATURE$ and possible epilepsy were the presenting features.	false
+91f19b4adfd8fbfce900ccbb481b8f84a5075d5d	Associations of cytokine concentrations in aqueous humour with retinal @PHENOTYPICFEATURE$ and exudation in @DISEASE$.	false
+d000e861332a0524905271b71776bbf8a51e822e	Idiopathic macular aneurysmal telangiectasia or so-called @DISEASE$ is usually a unilateral retinal @PHENOTYPICFEATURE$ in males.	false
+ec9866b74b86f726f552e7f2c2fbde5a860e2bbb	Bilateral @PHENOTYPICFEATURE$ are more common in @DISEASE$ than previously reported.	false
+c7b0ee178a5989f666aa0bfbef3b372a68cca118	Intravitreal bevacizumab injections may be effective as an adjunctive treatment for adult-onset @DISEASE$ with foveal exudation along with laser photocoagulation to the peripheral retinal @PHENOTYPICFEATURE$.	false
+316e3cd2ef5e3462c76ec7d6dfa8248479dbdb89	In @DISEASE$, angiogenin may act as a potential biomarker for retinal @PHENOTYPICFEATURE$.	false
+dde754c4b2fd853697b5f5384a41bf2fe93d4eff	@DISEASE$ (HNSCC) is associated with @PHENOTYPICFEATURE$ before, during, and after treatment with radiotherapy (RT).	false
+a615082b02955d36542313faaa82863e70e3b25f	When one thinks of @DISEASE$ with or without unknown primary, the typical presentation involves dysphagia, odynophagia, @PHENOTYPICFEATURE$, hoarseness, or more commonly, a neck mass.	false
+0bbca09471ae2f75e8371a6c0fba238edc37bb81	Clinically, FA is associated with high risk for marrow failure, @PHENOTYPICFEATURE$ and @DISEASE$ (HNSCC).	false
+36636575984c8f4508322a3a73d042c64c0fa3dd	Ocular metastases should always keep in mind when acute @PHENOTYPICFEATURE$ is encountered in patients with previously treated @DISEASE$.	false
+56e10c022769497defaf065d75648a023b0db0e6	Cardiovascular magnetic resonance (CMR) T1 mapping permits sensitive detection of tissue @PHENOTYPICFEATURE$ and fibrosis, and it may be useful in identifying altered myocardial tissue characteristics in @DISEASE$.	false
+cc1897761376a17a3aa2dc777f5229e247c17692	congenital heart disease (CHD; n = 291, 25.5%), and myocarditis and its sequelae (n = 284, 24.9%); based on the functional classification criteria of New York Heart Association (NYHA), more than half (n = 678, 59.4%) of patients were classified NYHA Class I; pregnant women in NHYA Class I-II (n = 951, 83.3%) commonly had @PHENOTYPICFEATURE$, myocarditis and its sequelae, while those in NHYA Class III-IV (n = 191, 16.7%) mainly had CHD, rheumatic heart disease (RHD), cardiopathy induced by hypertensive disorders complicating pregnancy, and @DISEASE$ (PPCM).	false
+c80ed98b9c3f480b5a45b02f65bf7621a60bfb01	Deaths from @DISEASE$ can be attributed to profound left ventricular failure, thromboembolic events, or @PHENOTYPICFEATURE$.	false
+7476a49210a925036ff7dbe93d6f4d237670af93	Another aim is to summarize recent knowledge about well-known syndromes, including @DISEASE$ (Lynch syndrome), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN @PHENOTYPICFEATURE$ tumor syndromes.	false
+5dfd52bf0e51fbd77476eadc3a1d04ea3e3c8a54	Another aim is to summarize recent knowledge about well-known syndromes, including hereditary nonpolyposis colon cancer (@DISEASE$), familial adenomatous polyposis, MUTYH-associated polyposis, and Peutz-Jeghers and Cowden/PTEN @PHENOTYPICFEATURE$ tumor syndromes.	false
+993e0ed0323255dad79536f0e7aa40383892e1f9	The @DISEASE$ is characterized by mental retardation, relatively specific facies, absent or dysplastic patellas, joint contractures, plantar/palmar furrows, distinctively abnormal toe posture, @PHENOTYPICFEATURE$, narrow pelvis, ureteral-renal anomalies, or other abnormalities.	false
+b764f3f45c6b96ec99ceb9d3189f41379b71011e	Combined with clinical data, 26 (15.0%) cases of DiGeorge syndrome (OMIM #188400), nine (5.2%) autoimmune polyglandular syndrome type 1 (OMIM #240300), eight (4.6%) autosomal dominant hypocalcemia type 1 (OMIM #601198), four (2.3%) hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (OMIM #146255), and one (0.6%) @DISEASE$ (OMIM #127000) were verified.	false
+11d52a53c6f4728a3f290eda15c122a28e419edf	Further, the results suggest that the regions reported here may be important in neurological disorders such as @DISEASE$ ataxia, Alzheimer's disease, and mild @PHENOTYPICFEATURE$, which are associated with deficits in producing non-standard visuomotor mappings while leaving standard visuomotor mapping relatively intact.	false
+2b52f278a08a8fbceee031fa42647f81620c38f3	Acute or subacute lesion of the optic nerve can be a symptom of @DISEASE$ myelitis, Leber's disease, @PHENOTYPICFEATURE$, Susac's syndrome, idiopathic retinal vasculitis, sarcoidosis and some other diseases.	false
+bf343599646f65c2bcbb27465fba5786e2f91e06	@DISEASE$ degeneration may be similar to @PHENOTYPICFEATURE$ associated with retroocular compression.	false
+5505b27f1cd88eeb43299d5b8c7389bec7a3098b	Agenesis of corpus callosum, a rare congenital defect, might be associated with macrocephalia and various degrees of @PHENOTYPICFEATURE$, @DISEASE$ defects, and seizures.	false
+ea3ec1df1707ecb266e5bbb27c4b972721c64179	Joubert syndrome with @PHENOTYPICFEATURE$ and @DISEASE$ coloboma in two sibs.	false
+cb6effea50b976ffa41253a8db2a99e3032a5d20	Ipsilateral extracutaneous defects include cervical ribs, @PHENOTYPICFEATURE$, malformed thumb and disproportionate overgrowth or deficient growth of limb bones; dental anomalies in the form of anodontia, hypodontia or ameloblastoma; and cerebral defects such as mental retardation, unsteady gait, meningioma and @DISEASE$ glioma.	false
+a546bf6f8452a5f63a1d2b14a5a5e02e74a27a6c	In a family with ataxia and @DISEASE$, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene (APTX) mutation that causes ataxia @PHENOTYPICFEATURE$ (AOA1 [MIM606350]).	false
+05d44e36d38601cc0c184796b255f6d8125bdf98	@DISEASE$ (EA) is an autosomal dominant human disorder that produces persistent myokymia and attacks of generalized @PHENOTYPICFEATURE$.	false
+edb236bea5aed5139ced1eae215d23e728cd7512	Channelopathies can also lead to @PHENOTYPICFEATURE$, especially @DISEASE$.	false
+c4ccfe09aacd0273873aeb82422719ed3fa4a579	Mutation in the glutamate transporter EAAT1 causes @DISEASE$, hemiplegia, and @PHENOTYPICFEATURE$.	false
+5645229c75144fed91700df0a3450df53c41c876	Affected children also had developmental delay and developed classical hemiplegic migraine, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ac6c199af58a66a1bbe5728fe63359dd6e52034f	News on ion channels: erythromelalgia, treatment of @DISEASE$ and faciobrachial dystonic @PHENOTYPICFEATURE$.	false
+968932c50d12d1fb27c9179b0c214e26c417e220	Aggravation of @PHENOTYPICFEATURE$ due to acetazolamide induced hyperammonaemia in @DISEASE$.	false
+cf88b4586a2983817059f4eaf74305cf62fa1d36	A patient with @DISEASE$ EA-2 performed three motor tasks, before, during and after an @PHENOTYPICFEATURE$ episode.	false
+2472c29f32e58ded197a5a09dfd5a831796e8e46	@DISEASE$ (EA) is characterized by paroxysmal attacks of @PHENOTYPICFEATURE$ interspersed by asymptomatic periods.	false
+625046e249a7dd4f48d60b3c3431ad88346a74a3	In type 1 @DISEASE$ there are also episodes of @PHENOTYPICFEATURE$ and myochemical changes.	false
+26a81a5c6c4950d1647add3eff1a3132fdf75320	Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with @PHENOTYPICFEATURE$, @DISEASE$, and absences.	false
+5ef9a82345eb0e41001b38a19f452bf0c1a412e0	Erratum to: @DISEASE$C and scapuloperoneal @PHENOTYPICFEATURE$ overlap syndrome in a patient with the R232C TRPV4 mutation.	false
+6248e5123baaf860cf82e3e48a6251c8ca894c53	@DISEASE$C and scapuloperoneal @PHENOTYPICFEATURE$ overlap syndrome in a patient with the R232C TRPV4 mutation.	false
+c9a2c557d14ba2d2b2ac2f826c96fab2b7e6c004	The findings indicate the complexity of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+edda5979e98c45419cc89f5551403e6da46b3ff8	@PHENOTYPICFEATURE$ are a common health problem among @DISEASE$ patients.	false
+bbc2332b02b56075357619c60bd749f703b04b2f	@PHENOTYPICFEATURE$ and impaired daytime functioning in outpatients with newly diagnosed @DISEASE$.	false
+b6cd0d730091b36470a1a1d72b6e32b6cbe72e8d	@PHENOTYPICFEATURE$ may be more related to @DISEASE$ symptoms than anxiety or depression.	false
+1877783d701e0ad866a07dcff4b2325d2fb1543c	The most commonly cited health effects were: @DISEASE$, mental problems, @PHENOTYPICFEATURE$ and respiratory disease.	false
+fba36211d923a22252462f80305440c6df48f974	Chemotherapy given for @DISEASE$ causes incidental and long-term cure of fungal @PHENOTYPICFEATURE$.	false
+75389250a802e9284635388522f6fb8e5a9842e6	The data reported herein suggest that mutant PXN variants play a prominent role in mitochondrial dynamics with direct implications on @DISEASE$ @PHENOTYPICFEATURE$ and hence, deserve further exploration as therapeutic targets.	false
+cea1f002c54f06e7a65ad130eebc34d54590abde	phenotype in the tumors and blood of patients with lung cancer, and these results suggest an important role for CD133 and EpCAM in @DISEASE$ @PHENOTYPICFEATURE$ and their potential application as novel biomarkers of the disease.	false
+1fce0c3c7354e54773865e73056430d7bd0f78a8	phenotype in the tumors and blood of patients with @DISEASE$, and these results suggest an important role for CD133 and EpCAM in lung cancer @PHENOTYPICFEATURE$ and their potential application as novel biomarkers of the disease.	false
+c5fa49d8ee4d2849e999ea70c6d8ef39374a8d54	@PHENOTYPICFEATURE$ and quality of life in @DISEASE$ patients undergoing chemotherapy.	false
+fafef2c6f0aff5afa0009cb4e6de68fc703ce0fc	We investigated the prevalence of @PHENOTYPICFEATURE$ and psychological distress in @DISEASE$ patients.	false
+b582afa2a10b21d24963cc8dbae26440a43cd3ed	The authors report a family with @DISEASE$, brachydactyly, @PHENOTYPICFEATURE$ and tachycardia.	false
+c5756cd0765426075fd28cee612dd3fc10f053d1	The authors report a family with @DISEASE$, @PHENOTYPICFEATURE$, syndactyly and tachycardia.	false
+5250f967f52fff259bbbc801d0fb584ffddda8be	Diagnosis of meralgia paresthetica is typically made clinically and is based on the characteristic location of pain @DISEASE$, sensory abnormality on exam, and absence of any other @PHENOTYPICFEATURE$ in the leg.	false
+bcd24ac39551837001005506c5fdc01310f8b674	To investigate the haemodynamic and morphological effects resulting from the chronic administration to young spontaneously @PHENOTYPICFEATURE$ rats (SHR) of a new selective angiotensin II subtype 1 (AT1) receptor antagonist, SR 47436/BMS-186295 (SR/@DISEASE$) both during and after the treatment period.	false
+e1f102035631271659bb2f6974375e31a1fcda9c	In our case report, however, a minor perforation of the roof of the mandibular canal during implant placement apparently provoked discrete @PHENOTYPICFEATURE$ of the nerve, resulting in persistent neuropathic pain without concomitant hypesthesia @DISEASE$.	false
+c08d86a61784c5c65f5c599ec92eeccfd72fc015	Restless legs syndrome (RLS) is a sleep-related @PHENOTYPICFEATURE$ characterized by an irresistible urge to move the legs accompanied by paresthesia and/@DISEASE$ that begins or worsens in the evening and night and that is partially or totally relieved by movement.	false
+ebaa97af537d946ec302f5ee135ca7e9a292c8fc	Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and @PHENOTYPICFEATURE$, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-@DISEASE$.	false
+e165061a6f629403e664b93759f3d1ff960e9052	Lenz-@DISEASE$ (LMS) is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies and distinct craniofacial, dental, cutaneous and distal - @PHENOTYPICFEATURE$.	false
+ad05d76d606c83fe6840190ccd029e2c2c85b706	Our study found a linear trend relationship between the expression of @DISEASE$ and @PHENOTYPICFEATURE$ size.	false
+473db7610c4e27f84de02ac7e4424262b434774b	A fracture of the pisiform bone or the hook of the hamate bone, osteoarthritis or osteochondromatosis of the pisotriquetral joint, Guyon canal syndrome, hypothenar @DISEASE$, tendinopathy of the flexor carpi ulnaris, an anomalous muscle, a ganglion cyst, or a @PHENOTYPICFEATURE$ may be responsible for ulnar neuropathy.	false
+95e1ead96992fb91fb3837d16569e4280e8561a9	@DISEASE$ with @PHENOTYPICFEATURE$: impact of posttransplant immunosuppression on disease activity.	false
+1ba93003506e0d6a18ce941c1ff34c01d3bdb202	The inhibition of @DISEASE$ and @PHENOTYPICFEATURE$ promoter-induced transformation in JB6 cells occurs through a prostaglandin independent- and an Erk1- or Erk2-independent pathway.	false
+dbc39e0203d861c92a9a27ca8215d4b95f531533	The cause of compression can be due to internal (@PHENOTYPICFEATURE$, distal fibrous arch or proximal ligament arcade, nerve or muscle anomalies) or external influences (ulnar neuropathy of cyclists, thrombosis of ulnar artery by hypothenar @DISEASE$, fractures of pisiform or hook of hamate).	false
+508e14eb2a2f425dd664a162b9e99d0b0de69190	Inhibiting @DISEASE$ activity after tumor formation caused squamous @PHENOTYPICFEATURE$ to transdifferentiate into sebaceous tumors.	false
+9d86923f175dd5ab7ec5d88259ab8f1d523d8e4f	Inhibiting @DISEASE$ activity after @PHENOTYPICFEATURE$ formation caused squamous tumors to transdifferentiate into sebaceous tumors.	false
+a3a2e21ff90e8d976d37451a14974708ed50a17a	Congenital adrenal hyperplasia, idiopathic hyperaldosteronism, adrenal hypoplasia congenita, @DISEASE$, ACTH resistance syndrome, and adrenal hereditary @PHENOTYPICFEATURE$ are described.	false
+1cb6b03955dc9e8f173468fbdf27334afe761dca	This work demonstrates that a specific block in induced @DISEASE$ activity inhibits @PHENOTYPICFEATURE$ promoter-induced transformation.	false
+43e4707281f44de2807d3ef686c96bdac5d6c5da	Activator protein 1 (AP-1) has a critical role in @PHENOTYPICFEATURE$ promotion, and blocking of tumor promoter-induced activation of @DISEASE$ inhibits neoplastic transformation.	false
+ffadff402299d26bf255a18fc0fdfe3f9bad644c	Activator protein 1 (AP-1) has a critical role in tumor promotion, and blocking of @PHENOTYPICFEATURE$ promoter-induced activation of @DISEASE$ inhibits neoplastic transformation.	false
+2d4926ca99b9ab204ac24bd7609b11724de61afe	These include the L-type voltage-gated calcium channel of skeletal muscle (hypokalemic periodic paralysis), the neuronal P/Q-type voltage-gated calcium channel (familial hemiplegic migraine, episodic ataxia type 2, spinocerebellar @PHENOTYPICFEATURE$ 6, and Lambert-Eaton myasthenic syndrome), and the skeletal muscle ryanodine receptor (malignant hyperthermia and @DISEASE$).	false
+884e5862c491826f9a7e776d520d4d178712fcdd	The @DISEASE$ (EDS) is a group of hereditary connective tissue disorders that are characterized by @PHENOTYPICFEATURE$, joints, and a diversity of other phenotypic manifestations.	false
+efbce408ade7c25d7b25bcc9f6ff15bd06782564	The Ehlers-Danlos syndrome (@DISEASE$) is a group of hereditary connective tissue disorders that are characterized by @PHENOTYPICFEATURE$, joints, and a diversity of other phenotypic manifestations.	false
+d1243520bd25a0f738c697b28806f0208dd80a8c	@PHENOTYPICFEATURE$ (@DISEASE$) represents a group of inherited conditions characterized by anomalies in two or more structures of ectodermal origin, which can be presented as problems related to hair, nail, teeth, sweat glands, and sebaceous glands.	false
+050ee6ba062a7f1bb9d7ac8567b849d54778b59f	Two case presentations of profound labial @PHENOTYPICFEATURE$ as a presenting symptom of hypermobility-type @DISEASE$.	false
+77422580e7dae02f1b6e330c6bdfcb2832772ef1	@DISEASE$ (cutis hyperelastica), is a group of connective tissue disorders characterized by @PHENOTYPICFEATURE$, ligaments and internal organs.	false
+ab8a0b0ed95b018106fe9b973a2c1750d7f2b3bb	[Abortive @DISEASE$ combined with @PHENOTYPICFEATURE$].	false
+49e07fe8b1671e9e8268ca1f78f419f6758fdc1b	Hypodontia, @PHENOTYPICFEATURE$, sparse hair and characteristic faces are the main characters of X-linked hypohidrotic ectodermal dysplasia (XLHED) which is caused by genetic ectodysplasin A (@DISEASE$) deficiency.	false
+e2e967275ac5784683103ec8dfcdac7537230dc2	This case report highlights the need for further research to determine incidence of labial @PHENOTYPICFEATURE$ in hypermobility-type @DISEASE$ and to further elucidate a potential correlation between profound labial edema and collagen disorders.	false
+b9c5fd8b3bef2410c6b3e080bdbe187b7a0930ba	This case report highlights the need for further research to determine incidence of labial edema in hypermobility-type @DISEASE$ and to further elucidate a potential correlation between profound labial @PHENOTYPICFEATURE$ and collagen disorders.	false
+52846497fe411d83be76544002c1a681cd575db1	The 14 additional phenotypes (84 patients: 46%) included PNH with @DISEASE$ (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with @PHENOTYPICFEATURE$, PNH with frontonasal dysplasia, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+d4d6ff8d8de67b4d39a0799b0154a2082959f495	The 14 additional phenotypes (84 patients: 46%) included PNH with @DISEASE$ (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with frontonasal dysplasia, PNH with @PHENOTYPICFEATURE$, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+05c0173cf22c62de154f2c2b9e66157e97b24bab	Children, especially young, obese children, presenting with a history of @DISEASE$ with associated @PHENOTYPICFEATURE$ or tongue protrusion raises the index of suspicion of narcolepsy and should prompt a referral to a specialized sleep facility to establish the diagnosis.	false
+dd92dfa306c5047572c806957c80f8f9d122af11	Anhidrotic ectodermal dysplasia (@DISEASE$) is a disorder of ectodermal differentiation characterized by sparse @PHENOTYPICFEATURE$ or missing teeth, and inability to sweat.	false
+31bc060db8558d5e531803ba54ee80c6a04c79ef	Of the 16 patients diagnosed pathologically with @DISEASE$, documentation indicated that 8 had an early dementia, 3 had prominent dysautonomia, and 2 had prominent @PHENOTYPICFEATURE$.	false
+4930418d8ba07caa17c71b41f82df6b5a16dfc75	Based on this cohort, although CJD is the most likely cause of a rapidly progressive neurodegenerative dementia, frontotemporal lobar degeneration with @PHENOTYPICFEATURE$, diffuse @DISEASE$, tauopathies, and Alzheimer disease can also cause a rapidly progressive dementia.	false
+905ff382fcd3828ab8b86eaa54c69cf9b50d23ed	We discuss a case of a 67-year-old male with @DISEASE$ (DLB) that was initially suspected as Creutzfeldt-Jakob disease (CJD) or another type of @PHENOTYPICFEATURE$, because he showed rapidly progressive deterioration, myoclonus, gait disturbance and a decline in activities of daily living.	false
+03e581e04faafb29e6a3c1136ae3556644cda58c	We reported on a case of @DISEASE$ (SPTCL) with multiple @PHENOTYPICFEATURE$ nodular lesions on the extremities, trunk and face.	false
+70b452ca5d77b3899092b6852e100312c9608d40	We report a 24-year-old man suffering from intermittent fever and @PHENOTYPICFEATURE$ on the left anterior chest wall, who was initially misdiagnosed with nodular panniculitis and finally diagnosed with @DISEASE$ through repeat examination of biopsy of the skin nodule.	false
+bc2c57f722f02480f79649dbc1f39a35d71c1eba	@DISEASE$ (SPTCL) is a rare type of T-cell lymphoma of CD3+CD8+ phenotype characterized by deep-seated @PHENOTYPICFEATURE$ or plaques mimicking panniculitis, a result of neoplastic lymphocytes infiltrating the subcutaneous fatty tissue.	false
+c593dc2c356945a60f268e85f69c2fd88aadeb40	Chronic @PHENOTYPICFEATURE$ is the most distressing symptom in patients with functional digestive disorders (@DISEASE$).	false
+88b80443e2ddaf161ff8e9d09ce4373c6be18049	@DISEASE$ is a rare congenital disorder characterised by unilateral @PHENOTYPICFEATURE$ from large joints, mainly the ankle or knee.	false
+26b877f3bb926e03ab4290fc4390061218ba5e1d	Parosteal osteochondromatous @PHENOTYPICFEATURE$ associated with Trevor's disease (@DISEASE$).	false
+2b085908e521bd7e2c8e44bb1911cdb571e1917a	Following injections of a single dose (10 mg/kg) of I(131)-labeled RP215 (specific activity, 12.5 muCi/mg), the @PHENOTYPICFEATURE$ size (@DISEASE$-VGH ovarian cancer cells) was reduced to 30% of the untreated control within two weeks.	false
+4273dce165f1a78c23a65ffbe2691d611ce1c01d	In addition, the results of an in vivo assay demonstrated that the growth of primary @PHENOTYPICFEATURE$ was significantly inhibited by 5-MTP in @DISEASE$ oral cancer cells and in invasive OC3-I5 oral cancer cells.	false
+f965855a666909e49614063a2661257c65323b36	@PHENOTYPICFEATURE$ is well established in @DISEASE$ (T2DM) and reflects small fibre neuropathy, cardiovascular autonomic neuropathy and peripheral sympathetic autonomic neuropathy.	false
+dc1170c349ac38f7a915ee29b46ef60988815ea4	The most frequent clinical manifestations were @DISEASE$ (8.1%) and @PHENOTYPICFEATURE$ or arthritis (8.0%).	false
+1fef542103938911aaada46a06b5b120b618c54d	Risk of @PHENOTYPICFEATURE$ during hypoglycemia in patients with @DISEASE$ and cardiovascular risk.	false
+10b7d6f6ed53675ac0cbb6fa989e8839c6c80bd0	Clinical manifestations also include short stature, dolichocephaly, prominent ears, micrognathia, @PHENOTYPICFEATURE$ and a high-pitched voice, immunodeficiency, @DISEASE$, and hypogonadism associated with male infertility and female subfertility.	false
+64a75869c4042c7bdaee7e3b9acf7509a453ffdd	Convenience sample of 20 patients with @DISEASE$ and a range of @PHENOTYPICFEATURE$ severity, including patients without edema.	false
+c40ec7c7a2525e70a8ebfa41b440a66c72a9cebe	Convenience sample of 20 patients with @DISEASE$ and a range of edema severity, including patients without @PHENOTYPICFEATURE$.	false
+633dcb56b89f6438909263f35e33a181217ad258	[Hypoglycemia and @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+5dce806f7032a7d22eb77f76ef0ec91667a5db0e	[Factors associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$ and myocardial infarction].	false
+9392bc16f9b005f9303755292d601566d16dbf4b	Patients suffering from @DISEASE$ develop several skin manifestations including @PHENOTYPICFEATURE$, diabetic dermopathy, diabetic bullae and acanthosis nigricans.	false
+fb62c7bd5d25ef5bf7b9142ca19386e8e1618159	Unfortunately, the exact relationship between lipid accumulation, @DISEASE$, and @PHENOTYPICFEATURE$ remains largely unexplored.	false
+f7817e05e4f7b27c111d1e9ec86165e30e8628c7	The patient presented with insulin resistance, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+447accf4d6a8cec9a001765199a36438f3b87259	A patient with autosomal recessive @DISEASE$ of childhood who was found to have a progressive pulmonary and @PHENOTYPICFEATURE$ with E. dermatitidis responded to an aggressive, multifaceted therapeutic approach.	false
+e09fc41dec0242f5bde110e67c7f70550ec86942	Adiposis dolorosa (AD) is a rare disorder of painful nodular subcutaneous fat accompanied by fatigue, difficulty with @PHENOTYPICFEATURE$, inflammation, increased fluid in adipose tissue (@DISEASE$ and lymphedema), and hyperalgesia.	false
+28cd2e0c301739f112720c7f1c1c95f2536b9a1c	@DISEASE$ intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, @PHENOTYPICFEATURE$, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inactivation in female carriers.	false
+864d2b3eb085dd363677cca872fe9faa3251a54a	He showed multiple minor anomalies including characteristic @PHENOTYPICFEATURE$, @DISEASE$, severe mental retardation, and hypogonadism.	false
+b7fc6e0ab3e93a5c5dd32dc4e3992207c3788dcf	The disease is characterised by severe mental retardation, mild @DISEASE$, @PHENOTYPICFEATURE$, short stature, facial, skeletal, genital and gonadal abnormalities.	false
+f239277e4d7e1d137a785f42b55982fd87c59d06	While @PHENOTYPICFEATURE$, hydrocephalus, and retarded brain growth have been rarely reported in association with homozygous @DISEASE$, this is the first report of a true brain malformation in an affected fetus.	false
+9f56f8b5358e15aa0b1ed9b5ca4be175ea467fd1	Mutations in the human gene cause @DISEASE$ mental retardation, X-linked (ATR-X) syndrome, a rare disorder characterized by severe cognitive deficits, @PHENOTYPICFEATURE$ and epileptic seizures.	false
+4ee109502fc5bb21098f0277ab49c9cb882dcb70	ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, @DISEASE$ and distinct facial features which include @PHENOTYPICFEATURE$, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth.	false
+d4281bc9a1e53a7c2fde1ae10c85f94e89ab8a07	Mutations in the @DISEASE$ mental retardation X-linked (ATRX) gene cause a spectrum of abnormalities including intellectual disability, developmental delay, seizures, and @PHENOTYPICFEATURE$.	false
+242cba13ad8c433f007bec21cf1f4a8983f81e41	The number of red flag features in multiple system atrophy with predominant @PHENOTYPICFEATURE$ was also higher than in @DISEASE$ (OR: 7.0, 95% CI: 2.5-19.5,	false
+c30e773bed12821d3ba7d298e7576add8b7664a5	The most frequent adverse events associated with minoxidil include @PHENOTYPICFEATURE$ and cardiovascular events related to its powerful antihypertensive effect, and less frequently, rashes, bullous eruptions, and Stevens-Johnson syndrome (@DISEASE$).	false
+098f9c64a776ef8f23cf204f488911a1759c1e85	Patients with Hashimoto's encephalopathy (HE), a steroid-responsive disorder, associated with @DISEASE$ and high levels of thyroid-related autoantibodies usually present with a subacute onset of confusion, focal or @PHENOTYPICFEATURE$.	false
+b8dd08f69ed4f74a0215dade77e16fd86926ac04	Homozygous missense mutations in the BHLHA9 have been reported to cause mesoaxial synostotic @PHENOTYPICFEATURE$ with phalangeal reduction (@DISEASE$).	false
+33b446627e45363e5b8f1b82c0dcf30fc8833120	Mesoaxial synostotic syndactyly with phalangeal reduction (@DISEASE$): @PHENOTYPICFEATURE$ type IX.	false
+436bc4244f58472418aa6207d45390d9735e0b4e	Response to: "Letter to the editor: Mesoaxial synostotic @PHENOTYPICFEATURE$ with phalangeal reduction (@DISEASE$): syndactyly type IX".	false
+54f544cb2866287b9438133e034173ca3bbd3293	Response to: "Letter to the editor: Mesoaxial synostotic syndactyly with phalangeal reduction (@DISEASE$): @PHENOTYPICFEATURE$ type IX".	false
+b677e4186eb1f4f6489d3827410a3e2351593f1c	Our results indicate that Complex Camptosynpolydactyly and Mesoaxial synostotic @PHENOTYPICFEATURE$ with phalangeal reduction (@DISEASE$) are likely to be allelic disorders.	false
+9985ec463e02d7ab4c8f81c07af28431c33663dc	Mesoaxial synostotic @PHENOTYPICFEATURE$ (@DISEASE$) with phalangeal reduction is an uncommon congenital limb abnormality characterized by central osseous synostosis at a metacarpal level, mesoaxial reduction of the fingers, and preaxial cutaneous syndactyly in toes.	false
+0e9d292766d13a78960ff720bfa39a767661ee31	Extrapolating from mouse data, we suggest that Fingerin loss-of-function in humans may underlie @DISEASE$ @PHENOTYPICFEATURE$ (OMIM 609432), which was mapped to the same locus.	false
+3e6d36b58d08cdaed3abd66a87f619c39df1fc9b	Mesoaxial synostotic @DISEASE$ (MSSD) (@PHENOTYPICFEATURE$ type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far.	false
+7f3737871d0b08adfdc5979977b206ae78bfd9d1	Disruption of MITF causes deafness, heterochromia irides, and leucodermia in @DISEASE$ individuals, whereas that of Mitf causes phenotypes of deafness, @PHENOTYPICFEATURE$, and white coat in mice.	false
+27f82d85556d2fa29ee373e3f5612b47f58e6c6f	@PHENOTYPICFEATURE$ in women with joint hypermobility syndrome/@DISEASE$.	false
+93679714e7f563cbe402c13544da882c91c6746e	@DISEASE$: a cause of childhood @PHENOTYPICFEATURE$?	false
+3f3941e3d1d2366f9af3ecb22b1be5c61bda33b7	This report describes a case report of a postmortem performed on a 5-year old patient of @DISEASE$, presenting with @PHENOTYPICFEATURE$, muscular flaccidity, and cherry-red spots on macula on fundoscopy.	false
+6e03cb2c5b31d2492949dfce225ef850a4d969d8	Gene mutations that have dominant inheritance and cause RHD, @PHENOTYPICFEATURE$, and defined extrarenal symptoms have been identified in TCF2 (@DISEASE$), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome).	false
+0b49114f5c0ad7fd78f48497b984c43ac033545a	Therefore, use of the @DISEASE$ should be considered in all women with early-stage PPCM and severely reduced LVEF during the first 6 months after initiation of @PHENOTYPICFEATURE$ therapy.	false
+8bbd679da10b401c8a754496c186af2491e17847	During WCD use, 1 patient had sustained ventricular tachycardia and successful shock delivery; 6 (67%) subsequently underwent implantable cardioverter-defibrillator (ICD) therapy, while 2 had no requirement because of reduced risk, and 1 died of @PHENOTYPICFEATURE$ during @DISEASE$ use.	false
+b7d8f9419fc0aa52fdf9a7e8fca9077ff9918337	During @DISEASE$ use, 1 patient had sustained ventricular tachycardia and successful shock delivery; 6 (67%) subsequently underwent implantable cardioverter-defibrillator (ICD) therapy, while 2 had no requirement because of reduced risk, and 1 died of @PHENOTYPICFEATURE$ during WCD use.	false
+a09e5c0333ad8dee80ef652e125744bf887a7f46	The @DISEASE$ is a safe and effective tool to terminate ventricular tachycardia/@PHENOTYPICFEATURE$ events, unless a conscious patient withholds shock delivery.	false
+bb7126fed8501b991a4e9bbae3fd8951fbc1eb3c	[@DISEASE$ with @PHENOTYPICFEATURE$].	false
+37c547285cce0e66bc7053787533eb6b5441f316	and ventricular tachycardia/@PHENOTYPICFEATURE$ treated with @DISEASE$ shock (6.92 vs 2.37; P = .034),	false
+27d18a47f2ad009908ab6a192dfecdc6d96b9ba4	The PROLONG study included 167 patients with newly diagnosed @PHENOTYPICFEATURE$ and left ventricular ejection fraction (LVEF) ?35% with a @DISEASE$.	false
+a1c5730e773b7b8f03d1f3bb3753f41da68445eb	Cardiac events can be recorded and retrospectively analyzed by the treating physician.The @DISEASE$ is a safe and effective measure to terminate potentially lethal ventricular tachycardia and @PHENOTYPICFEATURE$.	false
+61414ce8247a423b975a8732f394de6ed6b0b4d6	A patient with chronic systemic @DISEASE$ who was treated with hydroxychloroquine developed cardiac dilatation with @PHENOTYPICFEATURE$.	false
+c0b47b859daa9e46f6ffa9dca506b0ec808122d4	[@DISEASE$ with massive @PHENOTYPICFEATURE$ and proteinuria.	false
+222728678883369ba71bfbc586c467e5ec38ba9c	Effectiveness of the @DISEASE$ for prevention of sudden death is dependent on event type, patient compliance, and appropriate management of ventricular tachycardia/@PHENOTYPICFEATURE$ (VT/VF).	false
+82fc103271757f3d6b27782e4e974ac7b8340004	Side effects for all medications were minimal and included slight to moderate @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5ee34442dc6e8275002473f332f6cb159e2dc504	Reported symptoms included @PHENOTYPICFEATURE$, slurred speech, altered levels of consciousness, hypertension, tachycardia, electrocardiogram abnormalities, atypical motor behavior, tremors, and other @DISEASE$ (not specified).	false
+94f54be63a82abec9d36d22a5d5eae5e57ced488	The group with MCI with mild @DISEASE$ were observed to have a greater prevalence of patients with anxiety, depression, apathy and @PHENOTYPICFEATURE$ than in MCI without EPS.	false
+49122f0dd3d9d0926d7d241a177d155adfa5b518	The group with MCI with mild EPS were observed to have a greater prevalence of patients with anxiety, depression, apathy and @PHENOTYPICFEATURE$ than in MCI without @DISEASE$.	false
+98f2f48a32e192111334af91f903ac30f29389f3	All adverse events examined (sedation/@PHENOTYPICFEATURE$, headaches, involuntary movements/extrapyramidal symptoms (@DISEASE$), cardiovascular events, hypertension, and orthostatic hypotension) were more prevalent in the antimanic-treated cohort.	false
+416e76b414596a73e327075364ccd82d18cbaa44	Side effects were reported for 38% of the patients, with delirium, extrapyramidal symptoms (@DISEASE$), and @PHENOTYPICFEATURE$ or lethargy being the most common.	false
+6eee280daafeb341ac81d3062949ef2c350be3d0	Nail-patella syndrome (NPS), an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, absent or hypoplastic patellae, iliac horns, and often associated with nephropathy and, less frequently, with @DISEASE$, is caused by mutations in the LMX1B gene.	false
+0deb34f4092f28ddc1157797c5a8d5881fcf3291	Incidence of @DISEASE$, normal-tension glaucoma, NAION, papilledema, and IIH were determined for the beneficiaries and were stratified by @PHENOTYPICFEATURE$ status.	false
+2ce783e862f966d144aa1f508a4cd66df4f57874	Dilation of glomerular capillaries (DGC), mesangial @PHENOTYPICFEATURE$ (ME), an adhesion between visceral and parietal layers of Bowman's capsule (ABC), and filling of Bowman's space (@DISEASE$), were highly prevalent features in lake fish.	false
+eed6785436ac4e7cbaa4aafe08e6c7aeff2e34c6	As there are some evidences about the role of the immune system defects in the pathogenesis of @PHENOTYPICFEATURE$, specific primary antibody deficiency diseases such as @DISEASE$ might predispose some affected cases to such neurodevelopmental disorders.	false
+86908682acb16b950da9234c1b1d940d2ccb830b	As there are some evidences about the role of the immune system defects in the pathogenesis of @PHENOTYPICFEATURE$, specific @DISEASE$ diseases such as CVID might predispose some affected cases to such neurodevelopmental disorders.	false
+e879ec820af05ebfd6d89de93419d1e3f2272dc7	Autism is considered as a genetic and multifactorial disorder, with diverse risk factors involved.Herein, we report a 13-year-old male with @DISEASE$ (CVID), who was diagnosed with @PHENOTYPICFEATURE$ at the age of 3 years old.	false
+9c89a005bbec24cc314c997390f7a74b76685251	Autism is considered as a genetic and multifactorial disorder, with diverse risk factors involved.Herein, we report a 13-year-old male with common variable immunodeficiency (@DISEASE$), who was diagnosed with @PHENOTYPICFEATURE$ at the age of 3 years old.	false
+09aa82cdc57c00d2c2c67b2b1ef9e63fc3404fc4	Gastrointestinal infections were more prevalent in @DISEASE$ patients, as were @PHENOTYPICFEATURE$ in XLA patients.	false
+1bc0808db919dd99531e30ce0aeb854d6e833376	A case of @DISEASE$ complicated with progressive severe gingival hyperplasia and progressive @PHENOTYPICFEATURE$.	false
+8ae22cfb31260f5eb60dd9557f0f6eb939607c19	Progressive @PHENOTYPICFEATURE$ in @DISEASE$ with a SETBP1 mutation.	false
+920e20e6147d015005c0a2ff8335492aad94c39e	Accumulation of MRI data including diffusion weighted imaging from @DISEASE$ cases is needed to understand the mechanism underlying progressive @PHENOTYPICFEATURE$ in this syndrome.	false
+721b91a2888c3fb0f21ae7684bd77dc7fce0dbc6	EEG deterioration and neuroradiological findings, which showed progressive @PHENOTYPICFEATURE$, confirm the neurodegenerative nature of @DISEASE$.	false
+c9110165fde6875db9790db6a89cb17df7ffccc7	Patients with @DISEASE$ associated with SLE had more episodes of @PHENOTYPICFEATURE$ and livedo reticularis, and more frequently exhibited thrombocytopenia and leukopenia.	false
+05cce3b3f604437e33caaca44640456ed0e69b30	[Pulmonary @DISEASE$ @PHENOTYPICFEATURE$ with Pancoast's syndrome].	false
+29293354571bd1a4829ddbe8738379bd5dcc26ef	Although progression to leukocytoclastic vasculitis in patients with @DISEASE$ is uncommon, our data suggest that the association between microvascular occlusions and cutaneous vessel @PHENOTYPICFEATURE$ has a predictive value for the pathogenesis.	false
+45da2f71f8b2b14e21f2b7664bf188af6b2a00d9	We report a 46-year-old woman who extensively showed @PHENOTYPICFEATURE$ possibly due to neuropsychiatric systemic lupus erythematosus (NPSLE) and antiphospholipid syndrome (@DISEASE$).	false
+d55ef099534a5afc6e774569d9f6c0398569e3d6	Patients with @DISEASE$ associated with systemic lupus erythematosus (SLE) had more episodes of @PHENOTYPICFEATURE$, livedo reticularis and more frequently exhibited thrombocytopenia and leucopenia.	false
+e9dd007da4189e5e78fc8cfd30172ecc766a366d	APS has been shown to be frequently accompanied by multiple and recurrent @PHENOTYPICFEATURE$ lesions, suggesting that @DISEASE$ may play a critical role in developing cerebral ischemia of unknown etiology.	false
+ef26d9458f0c221a4c33fbd68b1ee927768207c5	@DISEASE$ has been shown to be frequently accompanied by multiple and recurrent @PHENOTYPICFEATURE$ lesions, suggesting that APS may play a critical role in developing cerebral ischemia of unknown etiology.	false
+3a9aa8c870eea1c394f6971c1bd93b1d14be0e6c	In this patient both NPSLE and @DISEASE$, therefore, might have contributed to the remarkable @PHENOTYPICFEATURE$ in a long clinical course.	false
+9e74e429309718d0bc6099f411f1e8df4bb3cf11	@DISEASE$ lung @PHENOTYPICFEATURE$.	false
+e53c1e03ab137651292ee339d57eeabef8bd2e85	The most common neurological manifestations of antiphospholipid syndrome (@DISEASE$) in all age-groups include stroke and transient ischemic attacks due to arterial thromboses and @PHENOTYPICFEATURE$.	false
+dde5f5df229479d1d8c0238090516a6e525a5e3e	Very distal @DISEASE$ prostate @PHENOTYPICFEATURE$: identification on multiparametric MRI at 3 Tesla.	false
+ce334c11e424041e5993684ccf89b6364fc3711a	This study examined the effects of GnRHa therapy in both genders and in subjects treated for @DISEASE$, @PHENOTYPICFEATURE$ or short stature.	false
+69b81eb124ca75b219402dfe97d05d8864b01feb	Central precocious puberty (@DISEASE$), @PHENOTYPICFEATURE$ caused by the premature activation of the hypothalamic-pituitary-gonadal axis, is a rare disease affecting children of both sexes.	false
+0e7cb2248470410d1da57d9a29bb073bafad216c	The entire coding region of the paternally expressed MKRN3 gene was sequenced in two siblings, a girl with @DISEASE$ and her brother with @PHENOTYPICFEATURE$, their parents, and their grandparents.	false
+860c007dbf04d925768d0fdc0f12db3b4c45f54c	MKRN3 alterations should be suspected in all cases with familial @DISEASE$ or @PHENOTYPICFEATURE$, especially if male patients are also involved or the precocious puberty trend does not follow the usually observed mother-to-daughter inheritance.	false
+99c4fd584a41ad8322b4922c066a1e488838f937	The aim of this study was to detect clinical predictors of left ventricular dysfunction, left @PHENOTYPICFEATURE$ and apical aneurysm on echocardiography, all known as independent predictors of lethal outcome for patients with chronic @DISEASE$.	false
+f32ac90fffebd0a5a6440b1d347ae63dd7800fd1	Only the individuals with the digestive form of chronic @DISEASE$ showed @PHENOTYPICFEATURE$, when compared with the appropriate controls.	false
+6599acd89e26c0d73406ed3670177489dc387e25	To determine the value of the radiological study of the thorax for diagnosing left @PHENOTYPICFEATURE$ and left ventricular systolic dysfunction in patients with @DISEASE$.	false
+50851f39b720865196dc19d7ecaaaf2ac27e65fe	A case with acute @PHENOTYPICFEATURE$ and a possibly congenital case of @DISEASE$].	false
+5cf865c45c59764de6b16a843918cf3eeaa70fb9	All patients presented with typical @DISEASE$ lesions (smooth, erythematous plaques without macroscopic epidermal changes, such as follicular plugs or scale, that resolved without residual scarring or @PHENOTYPICFEATURE$).	false
+b9a86f1da01ec74a43330c32613c0e8bdf18704c	@DISEASE$ (LET) is a unique subset of chronic cutaneous lupus erythematosus (CCLE) that generally presents as urticarialike papules and plaques with induration and @PHENOTYPICFEATURE$ on the face, trunk, and upper extremities.	false
+9a7f6f5265ca50cd0e4e645a4e55c3cfc899a0e8	[Hypokalemia, @PHENOTYPICFEATURE$, ion channel defects, etc. Re: @DISEASE$ and severe arrhythmia].	false
+c1b07f7e99d2779f7046e57d148dde63eb722ed2	Currently, it is not known whether @PHENOTYPICFEATURE$ formation in @DISEASE$ patients is secondary to other systemic problems, or the result of the loss of a critical function of PTEN within the lens.	false
+4f961aa2bd0260f0853bad8046dfefb71d7e4cc4	Mutations in the human phosphatase and tensin homolog (PTEN) gene cause @DISEASE$ (PHTS), which includes @PHENOTYPICFEATURE$ development among its diverse clinical pathologies.	false
+e9f1d02cff1ac42c194eade90b4a5bd7ea9eede7	AKT activation promotes @DISEASE$-associated @PHENOTYPICFEATURE$ development.	false
+e83b2abca21b2364b2a3c9917116571e3d5066a8	The disturbances in rhythm or conduction most frequently observed were: complete A-V block, premature ventricular beats, lengthening of the Q-T, incomplete left bundle branch block, atrial fibrillation, @DISEASE$, Wolff-Parkinson-White syndrome, premature supraventricular beats, incomplete right bundle branch block, @PHENOTYPICFEATURE$, and ventricular tachycardia.	false
+80d73299d3039c62e4a948249c77482dea6696c3	[Atypical symptoms of Fabry's disease: sudden bilateral @PHENOTYPICFEATURE$, lymphoedema and @DISEASE$].	false
+0976a28693328bcfe7dc681832b7847bbb804935	@DISEASE$ (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is a rare genetic mitochondrial disease which can cause cerebral (cerebrovascular accident, migraine, @PHENOTYPICFEATURE$..), sensorial (bilateral symmetrical deafness) and peripheral (muscular involvement, neuropathy) disorders potentially associated with diabetes, renal or cardiac disorders, or growth retardation.	false
+34a4552083ef79c224a6051838e7932f90ed7d30	Since age 19 years, the maternal aunt has had recurrent strokes, seizures, @PHENOTYPICFEATURE$ and deafness, later diagnosed as @DISEASE$ due to the tRNA(Leu(UUR)) A-->G mutation.	false
+bce09c99075ee8b8c60f13ca552bce35b63f1b6a	Hermansky-Pudlak syndrome (@DISEASE$) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, @PHENOTYPICFEATURE$, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin.	false
+cebe005ed4f6896462975623a0d10ccc757bc375	@DISEASE$ (HPS) is an autosomal recessive disorder characterized by pigment dilution, nystagmus, @PHENOTYPICFEATURE$, a bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin.	false
+340cbadfc8dd53904fd92e184a7e875d7d2bcb44	On this basis we predicted the excess human lifetime risk for @PHENOTYPICFEATURE$ (p(EXL)) and the highest possible risk for other systemic tumors (p(@DISEASE$)) resulting from daily intake of ST via food and ambient air.	false
+47e7ad8320a8c446da20f4d57210d6d2940663c4	Ocular findings in @DISEASE$ include @PHENOTYPICFEATURE$; congenital nystagmus, strabismus and cataract.	false
+865685f5c2898f5d7be385fedf78c98ff215dc33	In this report, we discuss the pathological lung features and treatment of @DISEASE$ associated with interstitial @PHENOTYPICFEATURE$.	false
+c2217ef186ea3a7fda5a749c3e9d1b62d3037596	In the prodromal stage, @DISEASE$ presents with flu-like symptoms, nausea, @PHENOTYPICFEATURE$, and gastrointestinal pain and is often mistaken on the first visit for other infectious diseases or gastroenteritis.	false
+8a66438caadea810ce5065b612143a31ab4bd622	Patients with a combination of holoprosencephaly and @PHENOTYPICFEATURE$, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly-polydactyly syndrome (@DISEASE$), also termed pseudotrisomy 13.	false
+a5743295e1c95f386923989cdfa83da76cffe4c6	Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly-@PHENOTYPICFEATURE$ syndrome (@DISEASE$), also termed pseudotrisomy 13.	false
+518264650227958fe9ee349da1a6a248cae493ca	@DISEASE$ patients display oculocutaneous hypopigmentation and bleeding diathesis and, depending on the disease subtype, pulmonary fibrosis, congenital nystagmus, @PHENOTYPICFEATURE$, and platelet aggregation deficiency.	false
+05f354a3a458b279d654c4cc5fa2f5da3a5bc843	Epithelial stress and apoptosis underlie @DISEASE$-associated interstitial @PHENOTYPICFEATURE$.	false
+0b2dcf9190df39c28a70aab390e127b64889363d	Electromyogram and nerve conduction studies were in keeping with @DISEASE$ syndrome, and an electroencephalogram was consistent with @PHENOTYPICFEATURE$.	false
+16129ed1a229a0cadd5b9cb6c69d89febef05079	Antibodies against voltage-gated potassium channel (VGKC)-complex are implicated in the pathogenesis of @DISEASE$, limbic encephalitis, faciobrachial dystonic @PHENOTYPICFEATURE$, and Morvan syndrome.	false
+2e90cafb76e551d2163d875bd8c5039c0c61c466	Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous @PHENOTYPICFEATURE$, vascular malformations, and epidermal naevi (CLOVE) syndrome, and @DISEASE$.	false
+6405d0bb4131e7cb4e3150e0bcde83b2512abf89	Hemiparesis, homonymous hemianopia and @PHENOTYPICFEATURE$ are common features of the @DISEASE$.	false
+db656f820d0aade8a9b9d465e253f65e0287c481	White matter (WM) loss is associated with @PHENOTYPICFEATURE$ in @DISEASE$ (SWS).	false
+c9e6fc103829ddf1d07ba5c8931ccf52ac398090	White matter (WM) loss is associated with @PHENOTYPICFEATURE$ in Sturge-Weber syndrome (@DISEASE$).	false
+5bd083cf5764c5063dce0ce9baa4fbc4449de4a0	More extensive changes were seen with NMR in cases of hemisphere infarction, @PHENOTYPICFEATURE$, herpes encephalitis, hydrocephalus (periventricular oedema) and @DISEASE$.	false
+0376c62252e1042486f11a8fccc46c709e0eae90	A low-dose regimen should thus be considered for CWS, and for @DISEASE$ associated with significant @PHENOTYPICFEATURE$.	false
+e0e239f1c7dc024190e4f26cfd1413ef9a269758	Patients with @DISEASE$ can develop hyperthermia in conjunction with anesthesia and surgery, and a relationship has been suggested between the syndrome and @PHENOTYPICFEATURE$.	false
+62f7d9657dd712c49177eb71887636a4209be29f	@DISEASE$ (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, @PHENOTYPICFEATURE$, hemiplegia and glaucoma.	false
+17af37ccdd8ba6c79021901435b790bc325ed8ea	Sturge-Weber syndrome (@DISEASE$) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, @PHENOTYPICFEATURE$, hemiplegia and glaucoma.	false
+b19299a4ec4a35a545582b4c49092e5981d09a19	Other clinical symptoms associated with @DISEASE$ are seizures, glaucoma, headaches, transient neurological stroke-like episodes and @PHENOTYPICFEATURE$.	false
+2a4f6a4753b25a5e04902a069568d61a99d39542	@DISEASE$ with late onset hemiplegic migraine-like attacks and progressive unilateral @PHENOTYPICFEATURE$.	false
+d27262e29d689cecdf4e6151cb2400fc30a0af0d	@DISEASE$ (SWS) with unilateral hemispheric involvement is a clinical model of early onset, chronic, often progressive hemispheric injury, resulting in variable neuro-@PHENOTYPICFEATURE$.	false
+c708cee63410e90d80bd4fd1c489a145561b4bdf	Sturge-Weber syndrome (@DISEASE$) with unilateral hemispheric involvement is a clinical model of early onset, chronic, often progressive hemispheric injury, resulting in variable neuro-@PHENOTYPICFEATURE$.	false
+c428e2c6f3e8e3b72fb52cea59568fba70d65545	Evolution of a symptomatic diffuse developmental venous anomaly with progressive @PHENOTYPICFEATURE$ in an atypical case of @DISEASE$.	false
+4d4726e1573b0286fd5786b0b3f02420b06605a8	@DISEASE$ (Weyers; OMIM 193530) is an allelic dominant disorder comprising @PHENOTYPICFEATURE$, nail dysplasia, and orofacial abnormalities.	false
+6a94325454d98289e22d15dbe0db67f3ef399934	We found two heterozygous missense mutations associated with a phenotype, one in a man with @DISEASE$ and another in a father and his daughter, who both have the heart defect characteristic of EvC and @PHENOTYPICFEATURE$, but not short stature.	false
+06f53e86c64a218b2f8ec6df528b087507b896b3	In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-@PHENOTYPICFEATURE$ group (SRPs) that includes Verma-Naumoff syndrome (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis-van Creveld syndrome (EVC), the Sensenbrenner syndrome, and, finally, @DISEASE$.	false
+d70d93c1a6cdace13433bcb5b3e0bd83d2aaada3	In the first study of residential radon and birth defects, we found associations with cleft lip w/wo @PHENOTYPICFEATURE$ and @DISEASE$ / lymphangioma.	false
+8904f3e70026365bbab4cf48b26cb963617e179a	The leading anomalies included cleft lip, @PHENOTYPICFEATURE$, anencephaly, polydactyly, hydrops fetalis, trisomy 21 and @DISEASE$.	false
+c4dfd4efb06c756e133c897fdd82e8a09d6a97d9	@DISEASE$ is a benign malformative @PHENOTYPICFEATURE$.	false
+468f7f3fdf952902496d38300f3da7ef415e7610	We report two sib fetuses with nuchal systic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+46b72ea5079e43b38aff6af7a4d8ce168ccf7e4a	Diagnoses made by ultrasonography included incorrect fetal dating, multiple gestation, fetal death, open neural tube defect, abdominal wall defect, placental abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, and oligohydramnios.	false
+30252408a4696c65f8dc52e339e29f46d2619e52	@DISEASE$ is a congenital lymphangiomatous @PHENOTYPICFEATURE$.	false
+dec3e7e89739fc7eefeabf3c4cdad1ab8fc9ffc2	Areas of discrepancy involved mainly CNS- and cardiovascular abnormalities and, to a lesser extent, @PHENOTYPICFEATURE$, abdominal wall defects and hydrops/@DISEASE$.	false
+44370ae1b3bc2616a3140b34419e5500182b4826	Retroperitoneal @DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+0a1654769f0bad387ebfae73242c27b9e04a6d5d	We report on a woman with a 14-week gestation pregnancy with a @DISEASE$ and @PHENOTYPICFEATURE$ at ultrasound examination.	false
+7244e893fbb1a9f077508b4e37952a4dae9bed8f	The macerated male fetus had a @DISEASE$, @PHENOTYPICFEATURE$, and webbing of the neck, elbows, and thighs.	false
+ce426075a8c8d7cb34e878187c2bc39f580cbb6d	Among Tunisian XP patients with an intermediate skin phenotype, 92% presented @PHENOTYPICFEATURE$ related to @DISEASE$ gene deficiency.	false
+a308779e921cb4a8188b3c4fefa897245ca23637	A review of the 16 reported XPF patients indicated mild skin manifestations, no @PHENOTYPICFEATURE$, and more delayed skin carcinogenesis at a lower frequency than that in @DISEASE$ patients.	false
+46b9a70d469ef3920b1c624e3ed0021fa1427621	Although most @DISEASE$ patients such as XP12RO have severe skin symptoms and neurological abnormalities of the de Sanctis-Cacchione syndrome, patient XP39OS was an atypical XP-A patient who had mild skin symptoms and minimal @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+8d2364a82d0f6ee48af47518ba4ea45643718c69	@DISEASE$: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, @PHENOTYPICFEATURE$, and facial hemihypertrophy.	false
+dda8a2cde2209926be5bb468ec8287fe8af3e22c	@DISEASE$: a neurologic variant with hemimegalencephaly, gyral malformation, @PHENOTYPICFEATURE$, seizures, and facial hemihypertrophy.	false
+f8c48ef1518ed0c97b2de67c82f0d933fb3923b7	We found 57 previously reported cases with the hemimegalencephalic variant of @DISEASE$, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, @PHENOTYPICFEATURE$/developmental delay, ocular/visual involvement, and facial abnormalities.	false
+d4885488acce24bd886b572999e5ee70f1f85c14	Linear @DISEASE$ and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and @PHENOTYPICFEATURE$.	false
+c7acd06991a0c248f43f8c565c78f34f19229d91	Here we report a boy with @DISEASE$ associated with brainstem and @PHENOTYPICFEATURE$ and neonatal medulloblastoma.	false
+5c50fba16a0268f2c501899b47bf1aa92a62e0d6	A severe form of @DISEASE$ associated with brainstem and @PHENOTYPICFEATURE$ and neonatal medulloblastoma.	false
+5445c89b136ab53353ef66033614359f689d36fb	Developmental neural abnormalities and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b356e81636dd2de8625c7520b789b00415a605f8	We report abnormalities in corrected QT intervals with changes in position and after exercise in patients with @DISEASE$ and confirm the previously reported finding of @PHENOTYPICFEATURE$ and blood pressure responses.	false
+c0c552262181ff2655e016748256e46ba1bf082f	It is concluded that in individuals with disorders such as @DISEASE$ that are associated with autonomic dysfunction, @PHENOTYPICFEATURE$ may be a sign of esophageal pathology.	false
+1c42541c91ada7729f99536d8285f5d5ebb17abd	A man known to have @DISEASE$ presented with a @PHENOTYPICFEATURE$ due to development of hiatal hernia and gastroesophageal reflux.	false
+042ccc8c6159bddaaad768ac8055038d721739e5	The majority of cases are related to genetic conditions which result in @PHENOTYPICFEATURE$ or altered connective tissue characteristics, direct injury to the median nerve caused by intensive sports or trauma, or @DISEASE$.	false
+0dd4b415e53ef6da3c2b389ec4a6a37833ee14c5	The conditions overlap and are characterised by facial dysmorphism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+58552eea0c75f6c0230f4c6d255b3712b75b8e0e	The conditions overlap and are characterised by @PHENOTYPICFEATURE$, short stature and @DISEASE$.	false
+4cb1a907b9420d2fb9c3827ff60ecd9ff78e0e2b	Noonan syndrome (NS) is a developmental disorder characterized by short stature, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d6ab22ed96df755093abb516ff78a980738082da	Noonan syndrome (NS) is a developmental disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and @DISEASE$.	false
+b32a18d048bbaf7ad1995a56fdfb78a84b269b9a	RASopathies include disorders generally characterized by developmental delay, specific @DISEASE$, @PHENOTYPICFEATURE$, cardiac hypertrophy, and facial dysmorphisms.	false
+1badf8807b9cd1f0dc227b73e74e964763944d7e	RASopathies include disorders generally characterized by developmental delay, specific @DISEASE$, short stature, cardiac hypertrophy, and @PHENOTYPICFEATURE$.	false
+b1bf3bdbbb30b10a00928f50f86e1e23a6f5caa9	The common phenotypic features of Noonan syndrome include facial dysmorphisms, @PHENOTYPICFEATURE$, @DISEASE$ and genitourinary abnormalities.	false
+4cecd0dd0e3cba287ee8f7f41a3164ff70226639	The common phenotypic features of Noonan syndrome include @PHENOTYPICFEATURE$, short stature, @DISEASE$ and genitourinary abnormalities.	false
+d2ec3be313d6ffed20c200d750a689fccf9583e3	Noonan syndrome is characterised by short stature, @PHENOTYPICFEATURE$, @DISEASE$, chest deformity and mild mental retardation.	false
+7dbd125fb0fbef3de46bf816922235004e0c7206	Noonan syndrome is characterised by @PHENOTYPICFEATURE$, unusual facies, @DISEASE$, chest deformity and mild mental retardation.	false
+9e230f5139097a5cb856260c5131c727dfc46027	Noonan syndrome is characterized by short stature, @PHENOTYPICFEATURE$ and a wide spectrum of @DISEASE$.	false
+ec4ea0b2cfedfa4d3cdba80fb2fcfbb98b76d160	Noonan syndrome is characterized by @PHENOTYPICFEATURE$, facial dysmorphia and a wide spectrum of @DISEASE$.	false
+ca6a93a61dd06c2cc8f25ad23663b600f51e2ca2	A syndrome of @PHENOTYPICFEATURE$, mental retardation, facial dysmorphism, short webbed neck, skin changes and @DISEASE$.	false
+58e6e729da2e500ebfc576950c454bbf73f59dbe	A syndrome of short stature, mental retardation, @PHENOTYPICFEATURE$, short webbed neck, skin changes and @DISEASE$.	false
+b1c185bbfb6b5ad4f1ab4b00907bc6a82de7e236	She was found to have @PHENOTYPICFEATURE$, @DISEASE$ and dysmorphic facial features.	false
+792eabd525aa21be3d662a77c6ec757730e19d16	She was found to have short stature, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+11733cc5d1515d57ca8448982d00069b495690e7	Noonan syndrome (NS) is characterized by short stature, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6c1d04a1fbe0ff3ff86d79c3d3780b105dc22282	Noonan syndrome (NS) is characterized by @PHENOTYPICFEATURE$, facial dysmorphisms and @DISEASE$.	false
+6cd83a532e505d494dbd43ee1c6e2cdc74eb2130	This syndrome is characterized by facial dysmorphism, @DISEASE$, @PHENOTYPICFEATURE$ and also a wide phenotypic variation.	false
+c4ea1e1771090f0664f6e74fc17bc2c326f9a7ef	This syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, short stature and also a wide phenotypic variation.	false
+d3a1f4010fe345e309c339cef30f2f7a22153802	Three had acidosis and hypoglycemia neonatally; later, myoclonus and @PHENOTYPICFEATURE$, and eventually severe mental retardation and @DISEASE$ developed.	false
+02141f6609202dc2d2dbb6f323c97d37f6dec270	The disease becomes symptomatic during childhood and is characterized by progressive @DISEASE$, progressive mental impairment, @PHENOTYPICFEATURE$, and periodic episodes of hyperammonemia.	false
+7377d1b5d0d8fe65eb0a991353d6c2f839116f23	Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, @DISEASE$ with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory @PHENOTYPICFEATURE$ and optic nerve atrophy with no eye fixation.	false
+4948c6e052ee0bf91120f3542e73da248ad71961	They included three with @DISEASE$, 14 with spastic diplegia, and five with @PHENOTYPICFEATURE$.	false
+efd0acd85d4f95985043dc65e582ff44cebe8037	We present the case of an 11-year-old female who sustained an episode of severe ischemic encephalopathy accompanied by @PHENOTYPICFEATURE$ and severe @DISEASE$.	false
+30e0cec9ce47aae0a91e48ab49fb4d85da2216f8	Thereafter, she developed severe @PHENOTYPICFEATURE$, @DISEASE$, profound mental retardation and intractable epilepsy.	false
+8d34d963bbef1e866bf23ef522cf3ef17bb8b1f0	Three males in two generations of a family had microencephaly, microphthalmia with @PHENOTYPICFEATURE$, @DISEASE$, hypospadias and cryptorchidism.	false
+cc43ae9ac3cd5add22dc065cf2de4ebf785f614d	A 7-year-old boy with schizencephaly, @PHENOTYPICFEATURE$, and @DISEASE$ had an ITB pump implanted.	false
+500af56d5e92555ce6afd718ced8399c6d4f5f95	Clinical features consist of variable mental retardation (all patients), progressive @DISEASE$ (6/10 cases), coarse facies (9/10 cases), @PHENOTYPICFEATURE$ (7/9 cases), visceromegaly (3 cases), angiokeratoma corporis diffusum (4 cases), recurrent bronchopneumonias (all cases), seizures (4 cases) and variable degrees of dysostosis multiplex (all cases).	false
+31a9df96af862ec89261b3e1e821cdc080347ea4	They rapidly became demented, developed myoclonus or tonic-clonic seizures, @DISEASE$, @PHENOTYPICFEATURE$ and blindness, and died.	false
+755199c5436e8b8c7b45fb16fad9da01977db498	They illustrate the 2 ways in which spinal compromise may develop in @DISEASE$--@PHENOTYPICFEATURE$ or tumor infiltration.	false
+33aae0fd54913f6b15973e675e1dbfb989849b71	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; @DISEASE$; and encephalocraniocutaneous lipomatosis.	false
+8ba2e9827fe2ee84cdacb40a564f1cfe1c8d0ef5	In addition to CS, subsets of such disparate syndromes as Bannayan-Riley-Ruvalcaba syndrome, @DISEASE$, and possibly VATER with @PHENOTYPICFEATURE$ and megencephaly with autistic features have been found to have germline PTEN mutations.	false
+decdb6ba3f5f812b2e03c669ac4d2bec0a0209d9	Mosaic somatic variants have been lately described in several overgrowth disorders, such as @DISEASE$, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome.	false
+5ae3096b0804d4af1d5841f01cc45429b36b911d	A severe and rapidly progressive case of proteus syndrome in a neonate who presented with unilateral @PHENOTYPICFEATURE$ apart from other typical features of the @DISEASE$.	false
+4bb0a993be2d9a888e642486d1f1c7030600cfd2	A severe and rapidly progressive case of @DISEASE$ in a neonate who presented with unilateral @PHENOTYPICFEATURE$ apart from other typical features of the proteus syndrome.	false
+9ea038fd1131184e8bde06adad8887f2d86e34d6	A major application of array comparative genomic hybridization (aCGH) is to define a specific cause in children with undiagnosed learning and developmental @PHENOTYPICFEATURE$ (@DISEASE$).	false
+be789c15ee08514672607ff403529285a5aed424	The spatial variability of three indicators of learning and developmental @PHENOTYPICFEATURE$ (@DISEASE$) was assessed for Cape Cod, Massachusetts.	false
+575f25760d342b9ebc28f0317120f35bf51e6a91	The @DISEASE$ (PBDs) are a set of often lethal genetic diseases characterized by @PHENOTYPICFEATURE$ and defective peroxisomal matrix protein import.	false
+4741a7fc776b78e59a08f3effb37423bc57e9450	The @DISEASE$ (PBDs) are a set of lethal genetic diseases characterized by peroxisomal metabolic deficiencies, multisystem abnormalities, @PHENOTYPICFEATURE$, and premature death.	false
+889a0bafedf512a3b60cdd4e598d1abcc363ede2	The clinical phenotype of our patient differs from previously reported @DISEASE$ patients with PEX2 gene mutations and suggests that genetic screening of PEX2 is warranted in children and adults with otherwise unexplained autosomal recessive @PHENOTYPICFEATURE$.	false
+1912e7c9483a9c053bc53b21a0a95eaf56d09ae2	@DISEASE$ should be considered in the differential diagnosis of autosomal recessive @PHENOTYPICFEATURE$, especially cases with early onset.	false
+6666f1aab04acf75ba6040553f308aa7b3b71c99	Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of @DISEASE$, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with @PHENOTYPICFEATURE$, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement.	false
+9cb3db6429c4577625510e286bafde50783644cb	Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of @DISEASE$, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an @PHENOTYPICFEATURE$ form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement.	false
+f9876c21780106744dff758ea961c3fe51d9df9f	Expanding the spectrum of PEX10-related @DISEASE$: slowly progressive recessive @PHENOTYPICFEATURE$.	false
+67b4923bc50baa75d278e79cc34692431c39ee02	@DISEASE$ should be considered in the differential diagnosis of autosomal recessive @PHENOTYPICFEATURE$.	false
+8ba1f708e19663d9052fdfef948e55be8adc6c17	Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive @DISEASE$ characterized clinically by mild @PHENOTYPICFEATURE$, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (PEX) genes.	false
+324cc633063382a909192e5ee36e16a56956ee16	Upper @PHENOTYPICFEATURE$, a frequent symptom of the presence of @DISEASE$ disease, is the cause of 6% of the emergency calls of the Austrian emergency system.	false
+ef395063fba54323423844697707255ea7238f62	At baseline and re-examination, heredity for @DISEASE$ disease was explored and body mass index, digestive symptoms including @PHENOTYPICFEATURE$, quality of life, alcohol and smoking habits, use of non-steroidal anti-inflammatory drugs and oestrogen, parity and blood lipid levels were recorded.	false
+927779870ad11f2305be5e2112e36c9d29bdc8fb	[Histometric analysis of @PHENOTYPICFEATURE$ in @DISEASE$ (author's transl)].	false
+bb5a9df4d990a170da1ee3e9dd3d239ec863197e	Myopathy, @PHENOTYPICFEATURE$ and tongue lipid composition in MuSK @DISEASE$.	false
+4c74da503e39b99b09f3b4f8eb26c8651c5c5535	[A case of @DISEASE$ associated with muscle twitch, @PHENOTYPICFEATURE$ and limb pain].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+1b1ea0677a4d8c4bda24c8a3239185433ae3247e	[Clinicopathological studies on @DISEASE$ with @PHENOTYPICFEATURE$ (Osserman-V type)].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+a5e685ce15505e8d33987fa55faf517bbd70603c	@DISEASE$ presenting with unusual @PHENOTYPICFEATURE$.	false
+3594d724fa9bd5337fe6d38b17413e900ca43dd0	Seronegative @DISEASE$ and @PHENOTYPICFEATURE$ of the tongue.	false
+5a8f85efa5f468d65b9759c4a5406533b1cf4653	AchR-positive @DISEASE$ with MRI evidence of early @PHENOTYPICFEATURE$.	false
+0bfef64ea476ec13f507b2530d6e23867f917be8	Facial @PHENOTYPICFEATURE$ in a @DISEASE$ patient.	false
+d4f94cd6cafe57b256a3c90276d4dc394b89733b	In addition, most of the occasional symptoms described in Kallmann syndrome patients, such as @PHENOTYPICFEATURE$, abnormal ocular movements, abnormal spatial visual attention, mirror movements, and @DISEASE$, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	false
+2c8ccf95a9b6b812fc3f098818866bcf8e3104f6	Additional findings may include synkinesia, hearing loss, unilateral @DISEASE$, brachy- or syndactyly, @PHENOTYPICFEATURE$, cleft palate and dental agenesis.	false
+34a03be3405568ec028654187b63a7eccc26338a	Additional findings may include synkinesia, hearing loss, unilateral @DISEASE$, brachy- or @PHENOTYPICFEATURE$, agenesis of corpus callosum, cleft palate and dental agenesis.	false
+da9f7ca6ddb0747c84b4e8f7b6060231e68d8a07	Total numbers and mean incidences of selected types of defects (anencephaly, @PHENOTYPICFEATURE$, encephalocele, congenital hydrocefalus, omfalocele, gastroschisis, diafragmatic hernia, cystic kidney, @DISEASE$/hypoplasia, transposition of great vessels, tetralogy of Fallot, hypoplastic left heart syndrome and coarctation of aorta) during the period under the study were analyzed.	false
+a22f526a0c9f520c99c6406cf2f9f03e3c299bc1	From the available material the authors selected six types of congenital malformations (anencephaly, @PHENOTYPICFEATURE$, omphalocoele, gastroschisis, @DISEASE$/hypoplasia, Down syndrome) for a more detailed analysis.	false
+c5be847978a474a41248ccdaa22bbd0b1e9dfb8d	Cryptophthalmos, dyscephaly, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+00b6d126c870e4f3ae2fcb67e25bb8d1be14ecad	Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases @DISEASE$, deafness, @PHENOTYPICFEATURE$, cleft lip/palate, and dental agenesis.	false
+3ffd1abcee04833c8b9f8b8acb69392ff9db464a	In addition to the thoracic defect, Poland syndrome can be associated with @PHENOTYPICFEATURE$, dextrocardia, @DISEASE$, and various tumors.	false
+4d0f534e3c6a7de43c1b3c0351091be6914f14fd	Mean incidences of selected types of defects (anencephaly, @PHENOTYPICFEATURE$, encephalocele, total neural tube defects, congenital hydrocephalus, omfalocele, gastroschisis, total abdominal wall defects, diaphragmatic hernia, @DISEASE$/hypoplasia, cystic kidney, Down syndrome and others) in 2006 were analyzed.	false
+ccf762d6593547696f8506e2768b9b471edc758e	Following total numbers of particular birth defects were registered during the 1994-2007 period: anencephaly 380, @PHENOTYPICFEATURE$ 559, encephalocele 1134, congenital hydrocefalus 584, omfalocele 351, gastroschisis 389, diafragmatic hernia 325, cystic kidney 698, @DISEASE$/hypoplasia 679, transposition of great vessels 797, tetralogy of Fallot 723, hypoplastic left heart syndrome 533 and coarctation of aorta 973.	false
+1e4497627b768a6eece29f45829bb5ba4e6b40fb	A danish girl with incomplete, bilateral cryptophalmos together with assoicated craniofacial malformations, laryngeal hypoplasia, @PHENOTYPICFEATURE$, unilateral @DISEASE$ and slight external genital abnormalities is reported.	false
+5e84491ccdb2de74daf473ddb5bd07c413be3dbb	We designed composite amplitude scores of nerve conductions (@DISEASE$) as a measure of severity of @PHENOTYPICFEATURE$ (PN), and used estimated glomerular filtration rate (eGFR) and urine albumin-creatinine ratio (UACR) parameters to stage CKD in type 2 diabetes patients.	false
+9456852a3e3b027facdc385c4b9de3b6ec69123f	We further found that self-regulating strategies may be the component of the @DISEASE$ that is most important to @PHENOTYPICFEATURE$.	false
+ce2b73274d760a804ea16e3ab628dc00b9d7659e	We present our cases with successive changes in CT findings over time and discuss the problems of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+ffbd5ac92e03c160265e3bacd9e7c4f8c7dbfa4e	We examined whether a process common to anxiety, labeled the cognitive attentional syndrome (@DISEASE$), is also associated with @PHENOTYPICFEATURE$.	false
+3164c346eb05175228c41e8dca54fd7e2718ecc4	Guillain-Barr? syndrome (GBS) is an uncommon @PHENOTYPICFEATURE$ causing paralysis and in severe @DISEASE$ respiratory failure and death.	false
+4b60c9f4eaf64cf37841cd73d5176fb92e045e50	Although @DISEASE$ may be associated with @PHENOTYPICFEATURE$ in the external ear canal, little attention has been paid to this association.	false
+6313a8eaeed3e6bc4b9073db8c5cb69f765176b0	Forty-five percent (9/20) of malignant @DISEASE$ were epithelial ovarian cancer, 20% (4/20) were borderline ovarian tumor, 30% (6/20) were non-epithelial @PHENOTYPICFEATURE$ and 5% (1/20) was a metastasis from the appendix.	false
+93188e77b6caecd547ab06adf531e84a19ef3e97	Forty-five percent (9/20) of malignant @DISEASE$ were epithelial ovarian cancer, 20% (4/20) were borderline @PHENOTYPICFEATURE$, 30% (6/20) were non-epithelial ovarian tumor and 5% (1/20) was a metastasis from the appendix.	false
+b2629a231dfdd6c44784fc8d7c62e812d4dec29d	The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 @DISEASE$, gait ataxia or @PHENOTYPICFEATURE$ in 3 cases, hearing loss in 1 case.	false
+660f07c9f23674cc5e44da5583184e9d00f6f932	The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or @PHENOTYPICFEATURE$ in 3 cases, hearing loss in 1 @DISEASE$, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case.	false
+7e35c76d6fde57c6efdbe29bda4739afea73eec4	We present two cases of @DISEASE$ with middle ear infection due to destructive @PHENOTYPICFEATURE$.	false
+16d2413a9cb4a37876d36b5d934e040129fdebe1	The absence of EAC @PHENOTYPICFEATURE$ and anterolateral position of the malleus/incus complex with respect to the stapes are considered useful in predicting long-term favorable hearing results after canal tympanoplasty for @DISEASE$.	false
+f5ff00a32b259c9f4eb9368599d8a29112a33b4e	Loss of function is associated with juvenile @PHENOTYPICFEATURE$, whereas gain of function leads to the high bone @DISEASE$.	false
+edca482bc61899ff7f90e8d90673790e8f3e521e	Upper airway narrowing due to changes in pharyngeal soft tissues takes a more relevant share in the development of SAS in acromegalic @DISEASE$ than @PHENOTYPICFEATURE$.	false
+286e070be20d3c09121078ce19745525405e3a9c	All had a normal thyroid gland, no history of familial @PHENOTYPICFEATURE$ or @DISEASE$ nor any history of previous neck irradiation.	false
+1411232fa484d5e9a8450247aecfce6f050c97e1	Sporadic disease, @DISEASE$, and familial @PHENOTYPICFEATURE$ were found in 183 (87%), 20 (9%), and 9 (4%) patients, respectively.	false
+1a13ca1ffceef2221c5d5ad81c578f364aeff606	Patients with @DISEASE$, secondary, tertiary, or familial @PHENOTYPICFEATURE$, multiglandular disease, parathyroid cancer, and ectopic glands were excluded.	false
+b0e1ae7e74d43b1a9948af8623e37383305951d7	This neoplasm is often associated with pheochromocytoma and @PHENOTYPICFEATURE$, a combination known as the @DISEASE$ type 2A (MEN 2A).	false
+4f7d937acfb7534f4e4095e87f732e774349730e	None of them belongs in the category of @DISEASE$ or familial @PHENOTYPICFEATURE$.	false
+a0342c3a0ffda2b0991ad037a7aa66ba439fbc54	@PHENOTYPICFEATURE$ onset at a young age is one feature in @DISEASE$ (MEN) type 1 and MEN type 2A cancer syndromes.	false
+1c6c8b27d7b8be87b00c631743616170e90f66d9	A case of @DISEASE$: @PHENOTYPICFEATURE$, insulinoma, GRF-oma, hypercalcitoninaemia and intractable peptic ulceration.	false
+5d541477ab8fa94c1ebb540f40657bcca9ee8444	@PHENOTYPICFEATURE$ occurs sporadically, in association with @DISEASE$ (MEN) types I and II, or rarely as familial hyperparathyroidism (FHPT) without other manifestations.	false
+0f33752b8582adf3328b283162280db4e7f49581	@DISEASE$ carcinomatosis - an unusual cause of multiple cranial nerve palsies and @PHENOTYPICFEATURE$.	false
+6679c69067b88dd95db9faf38ee252e1aadf4dc8	[@DISEASE$ with @PHENOTYPICFEATURE$, mental retardation and short height].	false
+262b7f28db984646a6613c13a0a64c62a80378b0	@DISEASE$ is a rare @PHENOTYPICFEATURE$, with unknown etiology and physiopathology.	false
+2d0eee5642f8d07586f1ea721eb66eb4adbffd22	Diphtheria-@DISEASE$-pertussis (DTP) vaccination and measles, mumps, and rubella vaccination (MMR) increase significantly the risk of @PHENOTYPICFEATURE$.	false
+c4fdd340a0b3676414d7a2e3d1f35c7c3cef311a	The present case is, to our knowledge, the first reported case of @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+88073ff9a84e33527e345bfae6be9251e26f2295	@DISEASE$ with intracranial hemorrhage and @PHENOTYPICFEATURE$ associated with mutations in exon 49 of COL1A2.	false
+789d7724520c7c64e5623d42a2ac2a4ef6003014	Chromosome 22q11 microdeletion syndrome, DiGeorge syndrome or CATCH 22 spectrum, is characterised by @DISEASE$, @PHENOTYPICFEATURE$, cleft palate, velopharyngeal insufficiency, transient hypocalcemia and T cell disorders.	false
+d40777c0667ef144f43910991559834b441e5998	The 22q11.2 deletion syndrome is one of the most frequent genetic syndromes, mainly characterized by cleft palate, @PHENOTYPICFEATURE$, @DISEASE$ and immune deficiencies.	false
+b6063cb694fa6c92812a56d9f3a1e50c5efcd286	Reported findings associated with @DISEASE$ include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and @PHENOTYPICFEATURE$.	false
+fed0935ec2eee3d9f25ae38b4b7860716868975d	A 13-year-old boy had cup-shaped ears, @DISEASE$ choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, @PHENOTYPICFEATURE$ of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy.	false
+ed40dccb4c648e406a4505f248e1dea664fd96d7	SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of @PHENOTYPICFEATURE$, hyperextensibility of joints, ocular depression, @DISEASE$ and teething delay (MIM 269880).	false
+26ec9f1a5c988c2737a040988d33eec8d9dfc77c	We report on a female infant with @PHENOTYPICFEATURE$ and mesomelic limb shortening, multiple congenital abnormalities, developmental delay, and @DISEASE$.	false
+a875ffb91f08db8b3c74f188cc8bcb7f417c2a42	An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-@DISEASE$ type 3, hearing loss, developmental delay, and distinct @PHENOTYPICFEATURE$.	false
+0ba52c880c2c0fa141c6c349bb1046172006dacb	This six-year-old girl shows nearly all the typical manifestations reported in patients with the SHORT syndrome, including lipoatrophy, minor facial anomalies, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0339f38205c3c3aaab595e317bb0b6656018ef1f	SHORT syndrome is a rare autosomal dominant disorder whose acronym stands for @PHENOTYPICFEATURE$, hyperextensibility of joints and/or hernias, ocular depression, @DISEASE$, and teething delay.	false
+1c62638305bc1b14084951c3120cede37d8f7e36	The @DISEASE$ concomitant with multiple dental, craniofacial, and somatic midline anomalies and @PHENOTYPICFEATURE$.	false
+66fab3b160368bb90c542637d78783fc12b13e6e	SHORT syndrome (OMIM 269880) is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (@DISEASE$, posterior embryotoxon, glaucoma), teething delay, partial lipodystrophy, insulin resistance and @PHENOTYPICFEATURE$ signs.	false
+b4aafc385765cd0c4b2aa75147689b2eba30bd21	SHORT syndrome (OMIM 269880) is a rare autosomal-dominant disorder characterized by @PHENOTYPICFEATURE$, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies (@DISEASE$, posterior embryotoxon, glaucoma), teething delay, partial lipodystrophy, insulin resistance and facial dysmorphic signs.	false
+7e6da861c731d5f49b9175bc6f3560e49dca5fd5	Autosomal dominant partial lipodystrophy associated with @DISEASE$, @PHENOTYPICFEATURE$, and insulinopenic diabetes.	false
+d58db51b9ba57f79dae403c4cdc7387e2bc9d397	The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for @PHENOTYPICFEATURE$, Hyperextensible joints, Ocular depression, @DISEASE$ and abnormalities of the Teeth.	false
+16f6d11202603947901bd9027f1337312166f069	Affected individuals also had the @DISEASE$, midface hypoplasia, @PHENOTYPICFEATURE$, retarded bone age, and hypotrichosis.	false
+9d45f36a7eefa28001df6c72fa7ec20217d1cc35	The patients involved were a boy with Pierre Robin syndrome, a girl with unilateral @PHENOTYPICFEATURE$ in Goldenhar's syndrome, a case with Nager's syndrome, and a rare case of midline deficiency caused by partial deletion of chromosome 18 (@DISEASE$).	false
+b5192586ccea059b5443f9ea1b0aa720dc2c04b5	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, @PHENOTYPICFEATURE$ of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, hypoplastic male external genitalia.	false
+45e5ecfca30b268fbd1bc23719ec2a3f9c339bf9	@DISEASE$ present in the neonatal period is characterized by oculo-@PHENOTYPICFEATURE$, congenital myopathy, and contractures.	false
+7cac52cd86b097dc1a1fdcee48f8ca2dd18e0a7c	Such findings have been described in several genetic and acquired conditions, including @DISEASE$, severe hypoxic injury following @PHENOTYPICFEATURE$, and toxic injury related to in utero exposure to angiotensin-converting-enzyme inhibitors.	false
+3149dd54450ff29d89f74c47748e0e8047a9d89d	Retinal degeneration and @PHENOTYPICFEATURE$ are the first signs of @DISEASE$ caused by CLN3 mutations, followed by inevitable progression to blindness.	false
+c461a978825c7dd728f07dea57dff9cae9491725	@DISEASE$ and @PHENOTYPICFEATURE$).	false
+b31611671f6cbf10c1cb6c9349744a98afd8c4fb	Automobile accidents are reported as being overrepresented in those suffering from the @DISEASE$ (SAS), evident by snoring, sleep disturbances and diurnal @PHENOTYPICFEATURE$.	false
+7aeab05e45881206f6dd19b3cd97a83aaa02a851	He clearly described the association between visceral obesity, hypertension, @PHENOTYPICFEATURE$, atherosclerosis and @DISEASE$, long before the modern recognition of this syndrome.	false
+3bb9ce93ccee12d2c95845852fba18d2ce1b73ff	@PHENOTYPICFEATURE$ hypopnea index level was significantly associated with race and environmental tobacco smoke, highlighting the potential effect of environmental factors, and possibly genetic factors, on pediatric @DISEASE$ severity.	false
+ba17249089d381cf0fc114a14e5d38aa7a1feb6e	The @DISEASE$ is characterized by the occurrence of cyclic snoring and frequent @PHENOTYPICFEATURE$ during sleep, with consequent hypoxia and hypercapnia.	false
+c6f00b37e4c030731ee62e15c38669a80b1b2527	The effect of aging and severity of @PHENOTYPICFEATURE$ on heart rate variability indices in @DISEASE$.	false
+2656a0233a65f694983d7628a0699126aa3987ea	Fibro-optic study of pharyngeal airway during sleep in patients with @PHENOTYPICFEATURE$ @DISEASE$.	false
+e302800b763adce7f0723f67bd3b52c52eff9315	The @DISEASE$ (OSAS) is a respiratory illness, characterized by recurrent episodes of @PHENOTYPICFEATURE$ and hypopnea, leading to reduction or cessation of the airflow.	false
+b7c3df6eb2525449cb1b64b99e9b4380abe166f3	[Recurrent @PHENOTYPICFEATURE$ associated with @DISEASE$].	false
+79d17c34ad4e04d8a20b08c6d6296849874b5140	The relationship between esophageal pressure and @PHENOTYPICFEATURE$ hypopnea index in @DISEASE$-hypopnea syndrome.	false
+ebefe7da861b6a045c61d765dc6c29983e670517	Post-ictal cerebral @DISEASE$ abnormalities are relatively common in patients early after @PHENOTYPICFEATURE$.	false
+3a26fd68bdf7874d75274ad742ec46bbf8339f06	Owing to @PHENOTYPICFEATURE$ it accumulates, giving rise to @DISEASE$, a severe disease found in patients receiving dialysis for several years.	false
+2b10b01d56e49450377ad1c5a4afcb8c001982bf	As a result of oxidative and carbonyl stress, advanced glycation end products (AGEs) are involved in the pathogenesis of severe and frequent diseases and their fatal vascular/cardiovascular complications, i.e. diabetes mellitus and its complications (nephropathy, angiopathy, neuropathy and retinopathy, @PHENOTYPICFEATURE$ and uremic and dialysis-associated complications), atherosclerosis and @DISEASE$, neurodegenerative diseases, and rheumatoid arthritis.	false
+34c32d7bfbbfb5a383ece6b0d61d46d57972db85	This article discusses the pathophysiology of AGEs in @PHENOTYPICFEATURE$ and the modification of beta 2-microglobulin with AGEs, especially focusing on their structure and pathological role in @DISEASE$.	false
+3045b1b49d7937aaa2688ff92e7b5041f021c545	We also review other reported unusual cases of UTC involving the cervical spine and discuss the differential diagnosis of destructive spinal lesions in uremic patients, such as UTC, @DISEASE$, and brown @PHENOTYPICFEATURE$.	false
+b289c063e977368e73b71815f6da6e38d4e5df82	The metabolism of SAP is thus altered in @PHENOTYPICFEATURE$ and is not normalized by dialysis, but it is not clear whether this is relevant to the pathogenesis of @DISEASE$ and amyloidosis.	false
+f26bd11e6f3f5f7b167f4295bd778da15d81080c	An important group of conditions are the arthropathies related to @PHENOTYPICFEATURE$ and its treatment, namely, aluminum toxicity, periarticular calcification and crystal deposition, hyperparathyroidism, and @DISEASE$.	false
+fbcb04eaffea2965ec80189034e92f2c0de6cbba	New aspects in the pathogenesis of @DISEASE$: pathophysiology of advanced glycation end products in @PHENOTYPICFEATURE$.	false
+aa2ae6d5e4bf41e906a40038892ee7423ec215d8	The consequences for the patient with chronic renal failure may be acceleration of vascular disease, @PHENOTYPICFEATURE$ progression and @DISEASE$.	false
+04c91dd8cd31d160a69fde74fbbbc290c92ffc6c	@DISEASE$ (DRA) is a complication of long-term dialysis and can also be seen in patients with chronical @PHENOTYPICFEATURE$ and on continuous ambulatory peritoneal dyalisis.	false
+f9fd24847d34c8ffe27ada0c123ae5d0a34f5d87	As a consequence of @PHENOTYPICFEATURE$, the concentration of circulating monomeric beta(2)m increases, ultimately leading to deposition of the protein into amyloid fibrils and development of the disorder, @DISEASE$.	false
+a16760f8b6ce0f185101d9bf6d5af3ed3ec22df9	@DISEASE$ is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, @PHENOTYPICFEATURE$, ichthyosis, mental retardation, and gonadal failure.	false
+a128f1d75fcf763db50b140d52d4223ea3a40602	@DISEASE$ (LI) is an @PHENOTYPICFEATURE$ disorder rarely associated with systemic organ involvement and development of carcinoma.	false
+4045fbf187a5ce01245c75b7de18e26d9cbfc1eb	However, multiple cutaneous @PHENOTYPICFEATURE$ have not been previously described in people with @DISEASE$.	false
+95133a17b79ed5a0c4f13e41627add6bae116009	A mixed neoplasm of @DISEASE$ with an ameloblastoma: a case of collision @PHENOTYPICFEATURE$ or a rare variant?	false
+4c414ecf2cb759c1f5f664dbfd34643fbf42bebf	The @PHENOTYPICFEATURE$ was diagnosed as @DISEASE$ with prominent bone degradation.	false
+5896ab674579b6d3440a640cdd51cbed89d52740	@DISEASE$ as a rare differential diagnosis of intranasal bony @PHENOTYPICFEATURE$.	false
+79b20abeb5f9a6d09e8dcde1cdf0311d2c45d504	@DISEASE$ is an extremely rare @PHENOTYPICFEATURE$ that accounts for 1% or fewer of all osseous tumors.	false
+4d135d32e13ae77a42b5039b75ce0dd2e02f3d67	The @DISEASE$ is a benign, slowly growing,bony hard @PHENOTYPICFEATURE$ causing facial deformity.	false
+2e940787da370d914e554024fac9f368087cc80c	The diagnosis of @DISEASE$ can be difficult, especially when @PHENOTYPICFEATURE$ are located in the anterior part of the lateral wall.	false
+c43ebb5b86a134e556fba80dcdf6bc410996b77c	Primary @DISEASE$ (PIH) of the skull base, when localized in the sella, is a rare, benign lesion that can mimic other common sellar @PHENOTYPICFEATURE$.	false
+c368cd19a8b93b63ecbbcf072163b968d7420194	It can be used to study the causes of secondary glaucoma, for example, the @DISEASE$, lens-induced glaucomas, ciliary block, cysts, and solid @PHENOTYPICFEATURE$ of the anterior segment.	false
+1d21d68e937c7f4659fa9275a14e2b9ddeece147	@DISEASE$ (PAN) is a necrotizing vasculitis of small to-medium-sized vessels, rarely associated with @PHENOTYPICFEATURE$.	false
+1a64abb4a758e586387424b06b1f9cbfd3a526f0	A novel familial prion disease causing @DISEASE$-autonomic-@PHENOTYPICFEATURE$ and cognitive impairment.	false
+c5d61a31b56161438d45c9bf81f225ad333b554d	@DISEASE$ is a rare autosomal recessive osteochondrodysplasia characterized by @PHENOTYPICFEATURE$ and a short trunk with a barrel-shaped chest.	false
+3a9d1f703b912c9e811eea0b21af55a3b214bbb1	These genomic tools, particularly transcriptomic analyses using DNA microarray and RNA sequencing platforms, have now become widely used in zebrafish cancer models to uncover novel biology and common molecular pathways underlying hepatocellular carcinoma, intrahepatic cholangiocarcinoma, melanoma, @DISEASE$ (ERMS), T cell acute lymphoblastic leukemia (T-ALL), @PHENOTYPICFEATURE$ and glioma.	false
+29b4ba4efc0286cd44021832454133c7f408ab9d	Multiple extranodal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a36f0d1511fd18bcabd9ef2b8208a960bfae6f8d	@DISEASE$ is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, mental retardation, sensory neural @PHENOTYPICFEATURE$ and extrapyramidal features.	false
+68d533434818187f16768bf89cff6764277a6d91	@DISEASE$ (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, @PHENOTYPICFEATURE$, diabetes mellitus and progressive extrapyramidal defects.	false
+ac5c7b9318774cc5812c4aeb7384ac6ac53a850c	@DISEASE$ (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, @PHENOTYPICFEATURE$, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects.	false
+6f6442692caa2a705ccb53d3f7259ac405dec914	@DISEASE$ (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, @PHENOTYPICFEATURE$, diabetes mellitus, learning disabilities and extrapydamidal manifestations.	false
+7e66e7da1f6d44699844df4ddeac0b6ec88d856b	Mutations in connexin 31 (Cx31) are associated with @DISEASE$ (EKV), hearing impairment and @PHENOTYPICFEATURE$; however, the pathological mechanism of Cx31 mutants remains unknown.	false
+2faddd54f54fdc9fe6c10dead5070a5e70cc171c	Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease @DISEASE$ (EKV) or sensorineural hearing loss with/without @PHENOTYPICFEATURE$.	false
+e75d50bfdd76bd2d3163b8a1c0ccc8ef15c50317	As @PHENOTYPICFEATURE$ cells in S?zary syndrome (SS) and Mycosis fungoides (MF) possess similar immunophenotypes and the conditions mentioned are often associated with pruritus, the analysis of the IL-31 pathway in @DISEASE$/SS patients is of interest.	false
+2952a2042ac09464121fde4c93725b57ba34b961	Further studies supporting the identity of @DISEASE$ and hereditary dominant @PHENOTYPICFEATURE$.	false
+ac2b8672db3f97766ce69325450b3dff7fe2d062	Differential diagnosis of @DISEASE$ and dominantly inherited juvenile @PHENOTYPICFEATURE$.	false
+d8a918f92856f34df7d052dbf5163bbe318be252	The patient had @PHENOTYPICFEATURE$, diarrhea, vomiting, and @DISEASE$ edema.	false
+d49eb8d1b167cf71b1be83cb4eb62aff9166d748	The patient had abdominal pain, diarrhea, @PHENOTYPICFEATURE$, and @DISEASE$ edema.	false
+812c00c737d0204fb0ea5806adf761471249dc53	The association of @DISEASE$ anomalies, short stature, @PHENOTYPICFEATURE$, and gait ataxia in a mentally retarded boy should prompt molecular analyses of the CUL4B gene.	false
+42c4c5ae262652a529661b8e2edc536df531865b	The association of @DISEASE$ anomalies, short stature, hypogonadism, and @PHENOTYPICFEATURE$ in a mentally retarded boy should prompt molecular analyses of the CUL4B gene.	false
+d1d2159be410058a328690c6e837d62d95df3caf	Other features include @DISEASE$ oedema, cervical lymphadenopathy, nausea/@PHENOTYPICFEATURE$, cough, chest or abdominal pain, and convulsions.	false
+8cfc7988a14d4e47b5cc155ccdcf3d2cd4a37615	Other features include @DISEASE$ oedema, cervical lymphadenopathy, nausea/vomiting, cough, chest or @PHENOTYPICFEATURE$, and convulsions.	false
+1331978b875c9f8e5b8719c2310239e2876dabf6	The Floating-Harbor syndrome is a growth retardation syndrome with @PHENOTYPICFEATURE$, speech development, and typical @DISEASE$ features.	false
+dd980fa77e0bd98058c1c6c5585cda82c3d6bf0e	RYR1 mutations as a cause of ophthalmoplegia, @DISEASE$ weakness, and @PHENOTYPICFEATURE$.	false
+07977299a13daa61f3c871aff93e1bae8b27fdd1	Clinical symptoms of @PHENOTYPICFEATURE$, diplopia, cognitive impairment, and @DISEASE$ paraesthesia did not discriminate CLIPPERS from non-CLIPPERS.	false
+0f0c7b7c69d79adfb5d0a127559f453c86c0f959	Clinical symptoms of gait ataxia, diplopia, @PHENOTYPICFEATURE$, and @DISEASE$ paraesthesia did not discriminate CLIPPERS from non-CLIPPERS.	false
+7f6d72b74be0f846897b5399b6a2d57f044dcc7b	Severe growth retardation, @PHENOTYPICFEATURE$, and @DISEASE$ dysmorphism in two patients with microduplications in 2p16???p22.	false
+883a8106f2bfb16ff44cc59f804a72b2cea34487	[Spinocerebellar ataxia with monilethrix, typical @DISEASE$ features, and @PHENOTYPICFEATURE$].	false
+572b4dbb5fb93a48e04f96ad38ba2cb6c1805277	She had minor @DISEASE$ anomalies, limb anomalies, @PHENOTYPICFEATURE$, and severe cardiovascular defects.	false
+350cea50439f91fec70b8cfccdf246f83bf05579	A reliable imaging technique is needed for follow-up of patients with temporal and @DISEASE$ @PHENOTYPICFEATURE$.	false
+b54e036e7d209e8f458cbecb15a0763222248bd0	@PHENOTYPICFEATURE$ is a frequent complication of moyamoya disease (@DISEASE$) in adults.	false
+471ea8c0d16911d551951de1377d6a1e4736b470	Since 30.6% (11/36) of Taiwanese moyamoya patients carry an RNF213 mutation and intracranial @PHENOTYPICFEATURE$ was found in half of the asymptomatic mutant carriers, it is suggested that the RNF213 mutation should form part of the diagnostic workup for @DISEASE$ in clinical practice.	false
+07e8f5ea82c104ec3ad2616657bc387445038080	The follow-up ranges from 1 to 15 years (mean 6 years): A motor (16 cases) and/or @PHENOTYPICFEATURE$ (14 cases) was detected especially in the childhood onset @DISEASE$; only one patient died.	false
+ae204c405734f51e48c1cbca49e18718ba2c2af1	@PHENOTYPICFEATURE$ is a long-term complication for adult hemorrhagic @DISEASE$ patients who underwent conservative treatment.	false
+9ffe10c93f0c8cc89da4c994077b2b4906a6704d	Therefore, while motor deficits in @DISEASE$ may progress with ageing, @PHENOTYPICFEATURE$ are mainly developmental and relatively stable.	false
+28af0be8b23d074ba1d87744a9547a24d8584102	We describe a case of @DISEASE$ (TA) associated with two unusual complications: 1) granulomatous anterior uveitis, and 2) @PHENOTYPICFEATURE$ demonstrating a cutaneous extravascular necrotizing granuloma.	false
+d71b2d643669c677572797b09987d4a23794450e	Holter monitoring revealed both supraventricular and @PHENOTYPICFEATURE$ more frequently in @DISEASE$ patients when compared with controls (P<0.05).	false
+16a2940c5a9082a12b4b613cc10c5cb7f4a1901c	A case of @DISEASE$, presenting with @PHENOTYPICFEATURE$ and progressive heart failure due to pericarditis, eosinophilic endomyocarditis, and myocardial necrotizing vasculitis, is reported.	false
+8b0d08df0bc6172a72e4061cbabfc2d4fea110fc	A 66-year-old woman with a history of bronchial asthma and eosinophilic pneumonia was hospitalized for @PHENOTYPICFEATURE$, unusual feelings in both plantae and in a finger of her left hand, disturbance of visual acuity and visual field in the right eye, and skin rashes; a diagnosis of @DISEASE$ was made.	false
+2966b2eaa1b7190012c139192c0d776163da9bf0	We present a case of @PHENOTYPICFEATURE$ and Parinaud's syndrome as presentation of @DISEASE$ in an asthmatic patient.	false
+e2970fddebc4a75c4f77a1824d7620c80e60b641	@PHENOTYPICFEATURE$ neuropathy in @DISEASE$.	false
+7c9ab9e24a34fb2b6ad9be69eaba3fb3975b95ab	A wide range of seemingly unrelated disorders, such as schizophrenia, bipolar disease, dementia, Alzheimer's disease, epilepsy, migraine headaches, strokes, neuropathic pain, Parkinson's disease, @PHENOTYPICFEATURE$, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and @DISEASE$, have underlying pathophysiological mechanisms in common, namely reactive oxygen species (ROS) production, the accumulation of mitochondrial DNA (mtDNA) damage, resulting in mitochondrial dysfunction.	false
+250ad23a0aef010e6444d46eb1ecb113ac13da05	Damage to mitochondria is now understood to play a role in the pathogenesis of a wide range of seemingly unrelated disorders such as schizophrenia, bipolar disease, dementia, Alzheimer's disease, epilepsy, migraine headaches, strokes, neuropathic pain, Parkinson's disease, @PHENOTYPICFEATURE$, transient ischemic attack, cardiomyopathy, coronary artery disease, chronic fatigue syndrome, fibromyalgia, retinitis pigmentosa, diabetes, hepatitis C, and @DISEASE$.	false
+6c04d39f2a5b728fb7d88277ec03e06173a979d3	(6) When @DISEASE$ becomes symptomatic (with @PHENOTYPICFEATURE$, osteomalacia, etc.) pending liver transplantation, treatment is aimed at controlling symptoms and preventing the rupture of oesophageal varices.	false
+0893d8f0f059b2863c0678643d7fdc60623bff75	@PHENOTYPICFEATURE$, motor and sensory neuropathy) (33%), Sj?gren's syndrome (SjS) (31%) and the remainder had a variety of other diagnoses that included systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and @DISEASE$ (PBC).	false
+cb79a7f814a266b480b2b05a01a51576de3ae5f0	We conclude that plasmapheresis has a role in the therapeutic management of patients with advanced @DISEASE$ who are disabled by the complications of pruritus, @PHENOTYPICFEATURE$ neuropathy, or hypercholesterolemia with xanthoma formation.	false
+44bf1d748cfaea0391a24c8d5fd1dbcab30eba60	The 59-year-old patient had esophageal varices bleeding due to @DISEASE$ (ammonium blood level: 140 mmoL/L) and presented with sensory Jacksonian @PHENOTYPICFEATURE$, dysarthria, and increased drowsiness and fatigue.	false
+cc1047afc21d00b5edeb3ec67181b4b756c294c2	Two female patients with grade IV @DISEASE$, untractable pruritus, arthralgias and @PHENOTYPICFEATURE$ neuropathy in one case, underwent long term plasmapheresis for 30 months (on a continuous centrifugation cell separator) and 18 months (on capillary plasma filters).	false
+4b5b5dfcc9047a117a7abfbfdf885b3ecdceeeed	On the basis of previous work, our own experience and findings, and the considerations discussed above, we propose a set of four diagnostic criteria for the hepatopulmonary syndrome: 1. presence of chronic hepatic disease (alcoholic, postnecrotic, or @DISEASE$ or active chronic hepatitis)--severe liver dysfunction may not be mandatory; 2. absence of intrinsic cardiopulmonary disease, with normal chest radiograph or with nodular basal shadowing; 3. pulmonary gas exchange abnormalities--an increased alveolar-arterial oxygen gradient (> or = 2.0 kPa) with or without hypoxaemia; 4. the extrapulmonary appearance of intravenous radiolabelled microspheres or a positive contrast enhanced echocardiogram, suggesting intrapulmonary @PHENOTYPICFEATURE$.	false
+b3454049df5166ffad6441c513a2df2a861611e7	The possibliity that the disturbed immunity associated with @DISEASE$ (PBC) includes @PHENOTYPICFEATURE$ of the complement system has been investigated by conducting simultaneous studies of the turnover of highly purified, hemolytically active, 125-i-labeled C3 (third component of complement) and 131i-albumin in seven control subjects and nine patients with PBC.	false
+f9d8690bc82bb6c831954497f2532d6c538fecec	Having excluded the recessive form of familial @PHENOTYPICFEATURE$, pseudohypoparathyroidism, @DISEASE$ and any immunological disorder, the autosomal dominant inheritance seems to be the most important etiology of idiopathic hypoparathyroidism.	false
+bcf12d7d2d2b97719d86ada2d28906f20c29f729	The laboratory examinations and cultures helped confirm the correct diagnosis of @DISEASE$ and Penicillium @PHENOTYPICFEATURE$.	false
+fa00cc6cb4f7ac2e40a7b9028861b8d6f0eff46b	In this study, the authors describe a 57-year-old non-human immunodeficiency virus-infected systemic lupus erythematosus patient later diagnosed with @DISEASE$ and then developed Penicillium @PHENOTYPICFEATURE$.	false
+462086b020a8b97ded42a11d41e457c81cc68a82	We report the two-year-four-month old female with @DISEASE$ who present @PHENOTYPICFEATURE$ and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome.	false
+246c2dab08a2fed03b212f5fd92a3236b5531318	This is the first report indicating a role for BMP4 in @DISEASE$, Axenfeld-Rieger malformation, @PHENOTYPICFEATURE$, macrocephaly, and diaphragmatic hernia.	false
+b294307d6906842d7e6571cdf7059c438d7d4090	In addition, this boy had @PHENOTYPICFEATURE$, which was not previously reported in the @DISEASE$.	false
+a2cf71d25d0229c64a043c3abda21514ba8225a1	These pain syndromes include varying combinations of the following symptoms: headache, referred otalgia, @PHENOTYPICFEATURE$ of the temporomandibular joint, styloid syndrome, tendopathia of the hyoid bone, carotidynia, cervical dysphagia and probably most patients with superior laryngeal nerve neuralgia or @DISEASE$.	false
+121c5d8cb7a9455210851a762c077ee8751c05d5	@DISEASE$ with @PHENOTYPICFEATURE$: a rare but treatable cause of syncope.	false
+2d29c4d86d79ccd0230c2ae0efb0b9c7ea9c1f45	Compared with investigations in other countries, this Finnish series differs in the incidence of familial cases and congenital cytomegalovirus infection, and especially in the higher incidence of neonatal @PHENOTYPICFEATURE$ and the lower incidence of @DISEASE$.	false
+08d3771eda5eab92652b62e7c87b340907240cdc	@DISEASE$ associated with spontaneous @PHENOTYPICFEATURE$.	false
+a0b62acd87a08475cf23ea50b835ac3f018d149e	We describe a case of an insulinoma presenting with falls and confusion in a patient with @DISEASE$, demonstrating the importance of early @PHENOTYPICFEATURE$ identification and a potential shared molecular pathogenesis.	false
+3180fe0b7c2a7ee31b8348d6017d66b34bc6f0c5	Some diseases such as those resulting in bleeding and pigmentation disorders (Griscelli syndrome), mental retardation, neuropathy (Charcot-Marie-Tooth), kidney disease (@DISEASE$), and @PHENOTYPICFEATURE$ (choroideremia) arise from direct loss of function mutations of rab GTPases or associated regulatory molecules.	false
+cce03d33812f653b3a9a01046b3282a08eb09fcb	@DISEASE$ (TS) is an autosomal dominant disorder with a high rate of de novo @PHENOTYPICFEATURE$.	false
+3b2b8459b7d7230b92d6277bbd46610a4008b0c5	We report a 5-year-old girl who, during the evaluation of asymptomatic hypertension, was discovered to have bilateral @PHENOTYPICFEATURE$, coarctation of the abdominal aorta, renal cysts and typical skin lesions of @DISEASE$.	false
+723c215f8c586ec808e1557c475317efbf2cb4cc	He published approximately 100 works in the field of clinical neurology, neuropathology, psychiatry, and forensic psychiatry, His works on cortical presentation of the body scheme, hallucinations, @DISEASE$, pregnancy and multiple sclerosis, pathohistology of demyelisation, toxic neuritis, epilepsies, nervous manifestations of Malta @PHENOTYPICFEATURE$, herpetic infections, pathogenesis of convulsive syndromes, psychiatric terminology, therapies of Parkinson disease and schizophrenia, ability of making will, organization of the psychiatric service, were published in national and prestigious European journals, and often cited.	false
+bc08c9049fadf63f65b4dcc6922267d68349aa28	Two-thirds of individuals with @DISEASE$ have de novo @PHENOTYPICFEATURE$, and individuals with postzygotic pathogenic variants in both TSC1 and TSC2 have been reported.	false
+9c8d60b6851173f2a9d092ace8652e4341221761	Borjeson-Forssman-Lehmann syndrome (@DISEASE$) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable @PHENOTYPICFEATURE$, a distinct facial gestalt, obesity, and hypogonadism.	false
+64b0723857e3a3212809b08e792dc44cd9a90bb3	@DISEASE$ (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable @PHENOTYPICFEATURE$, a distinct facial gestalt, obesity, and hypogonadism.	false
+ee16bab0e39c75ff68fc5bb0d3dfd6d23d53922e	We report on a case of @DISEASE$ (BFS) in which two sisters appear with the clinical picture of severe mental handicap, dysmorphic features and @PHENOTYPICFEATURE$.	false
+8d284cffc2ffffc299bfcfd6c70874e313cdbe48	Bardet-Biedl syndrome is a rare disease involving rode @DISEASE$, polydactyly, obesity, learning disabilities, hypogonadism and @PHENOTYPICFEATURE$, symptoms caused by immotile cilia dysfunction.	false
+6f6af9a71e1e64c0c97ecafb1daca3d9f13aec20	Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-@DISEASE$, postaxial polydactyly, renal abnormalities, @PHENOTYPICFEATURE$ and learning difficulties.	false
+052cee6b72e83b008d6aeb31e2192fffb0f35813	Primary clinical features include rod-@DISEASE$, polydactyly, central obesity, @PHENOTYPICFEATURE$ and mental retardation often presenting as learning difficulties.	false
+c55d825b00587f579162072842b38e862f81ae47	Other clinical signs and symptoms of BBS are: polydactyly, hypertension, hyperlipidemia, @PHENOTYPICFEATURE$, intellectual disability, rod-@DISEASE$, genitourinary and renal abnormalities.	false
+7c9cc9765d12ac745d57fd953e240fac81a59b67	The purpose of this study was to determine whether an @PHENOTYPICFEATURE$ @DISEASE$ was caused by a homozygous RP1L1 mutation.	false
+d5eb1d4e3b867c314e4f9d2db78f0d33e5fe096b	The majority of the genetic causes of @PHENOTYPICFEATURE$ (ar) @DISEASE$ (CD) and cone-rod dystrophy (CRD) are currently unknown.	false
+6c820fd4f6a4a17a123c8dbc7be49dc49af3f79c	Principal features of Bardet Biedl Syndrome are red @DISEASE$, obesity, polydactyl, hypogonadism and @PHENOTYPICFEATURE$.	false
+c95d999b4f36a935c31ebe41d7a7fc59ff953285	It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-@DISEASE$, polydactyly, obesity, @PHENOTYPICFEATURE$, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life.	false
+74fee82d686bc3ce104e1d35f44de1a8abf2bbe9	Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-@DISEASE$, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and @PHENOTYPICFEATURE$ that are caused by ciliary dysfunction.	false
+3c9978f9d9e2626b1ce0d4dc8b9250e232973c16	Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-@DISEASE$, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and @PHENOTYPICFEATURE$.	false
+8d6f5d55c37fc9924b2feac2647550b057c33800	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, @DISEASE$, and hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC.	false
+3ce034afd54f315e7f4e2d4a8990a5e394989bec	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, Hallervorden-Spatz disease, choreoacanthocytosis, @DISEASE$, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+0fff16c56070a0a3350d3f47990d5e1ed87f6995	Laboratory investigations excluded all the common diseases with @DISEASE$: @PHENOTYPICFEATURE$, tiroid and paratiroid disorders, parassites, vascular, inflammatory or degenerative diseases.	false
+a7d1654e8b0888d5301e3d87e90233dfcc10a9fb	Autopsy showed evidence of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+440379ff873724e1bc1d72b72637005d1cd7527b	Benign @PHENOTYPICFEATURE$ (glomus tumor, onychopapilloma, and @DISEASE$), malignant neoplasms (malignant melanoma and squamous cell carcinoma), and other conditions (hemiplegia and postsurgical scar) can be associated with monodactylous longitudinal erythronychia or it may be idiopathic or the initial stage of polydactylous longitudinal erythronychia-associated systemic conditions.	false
+c74fd917d2c15ddea820ba71e35d85d248773d99	The exact origin and classification of @DISEASE$ in epithelial @PHENOTYPICFEATURE$ are still debated.	false
+db773ea115eca62d752fe1eaa171401276cf243d	@DISEASE$ is a rare @PHENOTYPICFEATURE$ that presents mainly as an isolated papule or nodule on the scalp, face or neck in the adults.	false
+488cf87b6074be619168ad94bfe8290f6150b03a	@DISEASE$ is an epithelial @PHENOTYPICFEATURE$.	false
+abfd6b34230b8d0cf1cf96c0791df4ed93044507	@DISEASE$ (WD) is a rare epidermal @PHENOTYPICFEATURE$ that frequently arises as a papule or nodule on the head or neck of middle-aged or older persons.	false
+b0f066427f927275ffca9209139aeddc6d5b4212	Subungual @DISEASE$ is rare, but other dermatoses such as lichen planus, psoriasis, mail melanoma and various @PHENOTYPICFEATURE$ have to be ruled out.	false
+62c998277507e6e5eded068515d15290abbddfa0	From the therapeutic perspective, magnetic stimulation applied repetitively has been found useful, with different degrees of efficacy, in treating resistant depression, tinnitus, psychogenic dysphonia, Alzheimer disease, @PHENOTYPICFEATURE$, Parkinson disease, dystonia, stroke, epilepsy, generalized anxiety as well as post traumatic stress disorder, auditory hallucinations, chronic pain, aphasias, obsessive-compulsive disorders, L-dopa induced dyskynesia, mania and @DISEASE$, among others.	false
+34847575544e89816fd73511086b776414e9d35e	@DISEASE$ (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular @PHENOTYPICFEATURE$, immunodeficiency, telangiectasia, elevated serum ?-fetoprotein concentration, radiosensitivity and cancer predisposition.	false
+874b22c560a9069e260622e2b2b5cd728338f42a	To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular @PHENOTYPICFEATURE$, an autosomal recessive form without the essential clinical and laboratory features of @DISEASE$.	false
+37be3c6c802ea4e9cf0fccb1f0ccedde8adce6ff	Microdissection study of the myenteric plexus in acardia, @DISEASE$, cystic fibrosis, extrahepatic @PHENOTYPICFEATURE$, pediatric AIDS and Werdnig-Hoffmann disease.	false
+b91b4eb4a76c2a1d453b56126669a9b51abdfa9d	The onset of progressive cerebellar ataxia in early childhood is considered a key feature of @DISEASE$ (A-T), accompanied by ocular @PHENOTYPICFEATURE$, telangiectasias, immunodeficiency, cancer susceptibility and hypersensitivity to ionizing radiation.	false
+cd79c345704156da2b91ade429d324eb2deff173	Microdissection-point count morphometric study of the myenteric (Auerbach) plexus or esophagus, small intestine, and colon was done for infants and children with acardia (2), @DISEASE$ (5), cystic fibrosis of the pancreas (CFP) (25), extrahepatic @PHENOTYPICFEATURE$ (EBA) (17), pediatric AIDS (10), and Werdnig-Hoffmann disease (WHD) (8).	false
+690c7b3e2e69b4ff974a4970dbcda82957d641c7	A 47-year-old man with @DISEASE$ was admitted with @PHENOTYPICFEATURE$.	false
+00b57a9a3e21a10e83e0de164e60b80c62d72500	Using IF-P, diagnostic findings were obtained in 100% of cases of lupus nephritis, acute post-infectious glomerulonephritis, cryoglobulinemic glomerulonephritis, fibrillary glomerulonephritis, @DISEASE$, myeloma cast @PHENOTYPICFEATURE$, and light-chain Fanconi syndrome (LCFS), 88% of cases of immunoglobulin (Ig)A nephropathy, 80% of cases of light-chain deposition disease, 60% of cases of membranoproliferative glomerulonephritis type 1, 50% of cases of idiopathic membranous glomerulopathy (MGN) and 20% of cases of anti-glomerular basement membrane (GBM) disease.	false
+97d1495d8ef4d2cf53f9a4965eab9464d932f0ad	The most common entities are @DISEASE$, monoclonal immunoglobulin deposition disease and myeloma cast @PHENOTYPICFEATURE$.	false
+9a2f0effdb240c76f5da1b5c288c4cb2cf6bbcb4	A 43-year-old female with @DISEASE$ and concomitant multiple myeloma presented with severe bowel dysmotility causing @PHENOTYPICFEATURE$, anemia, and a 100-pound unintentional weight loss.	false
+543a19abafd7ba6c9f25996f480739bce24dc106	Here we report on an 18-years-old female patient with 13.1?kb deletion of 8q24.3 fusing the 5'-portion of SCRIB with the 3'-portion of PUF60 and presenting with borderline @PHENOTYPICFEATURE$, eye coloboma, short stature, scoliosis, heart defects and interestingly postnatal megalencephaly, in contrast to microcephaly, which is usually associated with 8q24.3 deletion (@DISEASE$).	false
+7c173eb0db41fbf271a3587a8a083b2d41cd17b8	In patients with @DISEASE$, eustachian tube dysfunction, @PHENOTYPICFEATURE$, and sensorineural hearing loss are common because of structural and functional changes of the temporal bone and palate.	false
+ede921532c89b17c5f5352208bc14b7c8c426af4	In patients with @DISEASE$, eustachian tube dysfunction, conductive hearing loss, and @PHENOTYPICFEATURE$ are common because of structural and functional changes of the temporal bone and palate.	false
+148ed4f822edf640a3cfa6f6d84305e7f49c7010	@DISEASE$, unilateral @PHENOTYPICFEATURE$ and gait disturbances: a clear-cut case of diagnostic mimicry?	false
+ef46f050eae97d198cb08fc4a4cc83be4fc1e488	Yunis-Var?n syndrome (YVS) is an autosomal-recessive disorder with @DISEASE$, @PHENOTYPICFEATURE$, and severe neurological involvement.	false
+e9c84a149f229367f732b7fb252a3f4db3b6f483	@DISEASE$ with heart failure and @PHENOTYPICFEATURE$: report of a case.	false
+7263c9678c80d923fa59e7d96de403b924f6fd6e	Further, evidence supports a prolonged onset time in patients with infection, @DISEASE$, @PHENOTYPICFEATURE$, kidney failure, liver cirrhosis treated with ulinastatin along with remifentanil or intravenous fluids administered prior to NDMR.	false
+b5965d8904ee48babe916232c6d6bac1e3198e53	@DISEASE$ dystonia, the most common inherited form of primary dystonia, is a neurodevelopmental disease caused by a dominant @PHENOTYPICFEATURE$ in TOR1A.	false
+bb5a049c186a925e1ce7de8c528fab7d6b640990	@DISEASE$ is a rare @PHENOTYPICFEATURE$ disorder of unknown etiology.	false
+77d3bbd7801d00864ee9ba1aa4a94d6b8bdfb6dc	The genetically dystonic (dt) rat, an autosomal recessive @PHENOTYPICFEATURE$, exhibits a progressive motor syndrome that resembles the generalized @DISEASE$ seen in humans.	false
+ae5e811dd43b7cb73cb03864b090c550b6f35c4d	The other two probands had, obviously, sporadic @DISEASE$-dystonia, one of which was caused by a de novo @PHENOTYPICFEATURE$, while the other one had a parent being an asymptomatic carrier.	false
+551c95cc3f80436d71a14d3d9b65bdc27632c15b	Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes @DISEASE$ with involuntary movement, @PHENOTYPICFEATURE$ and scoliosis.	false
+33fb39f74059df87a3fcfe1f4414d9fa3334d642	Our study supports the candidacy of CACNA2D2 as a disease gene associated with a phenotypic spectrum of neurological disease that include features of @DISEASE$, @PHENOTYPICFEATURE$, and cerebellar atrophy.	false
+cbad6c2dca6a05e2d10329e652c7648e7baf8b72	Rare biallelic CACNA2D2 variants have been previously reported in three families with @DISEASE$, and one family with congenital @PHENOTYPICFEATURE$.	false
+c3afb3cb33f335719f5aa84dbf98c071d288db23	A case of primary aldosteronism associated with @PHENOTYPICFEATURE$ and preclinical @DISEASE$.	false
+c92acd52e1e92d1a6c818ee64e0408af0b4c1f41	The etiologic work-up of hypertension with @DISEASE$ and elevated serum renin includes search for @PHENOTYPICFEATURE$.	false
+a59729fa76e2214095b4962ac7c3e8ce89f166ac	Diffuse toxic goiter was shown to be accompanied by the development of hyperreninemic @DISEASE$, and in hypothyrosis @PHENOTYPICFEATURE$ developed in the presence of raised activity of plasma renin.	false
+256d9ebe7bfb0903cdb3cc6401def9152434dbeb	The common causes of secondary hypertension include renal parenchymal disease, @PHENOTYPICFEATURE$, primary aldosteronism, phaeochromocytoma, and @DISEASE$.	false
+a2142889ab46aa63d6dcaca67cb4914c63bdd38d	Patients suffering from diabetes, @DISEASE$, @PHENOTYPICFEATURE$, Klinefelter's syndrome or motor neuron diseases, such as amyotrophic lateral sclerosis for example are known to have impaired muscle property and reduced physical performance.	false
+93fcddbcb6219a4e9f846b24356ad1b84cdbb7fb	The frequent causes of secondary hypertension include renal parenchymal disease, @PHENOTYPICFEATURE$, primary hyperaldosteronism, phaeochromocytoma and @DISEASE$.	false
+a09c83980104c12a6cd021b9dae3394b4429741e	Common metabolic conditions include hyponatremia, hypercalcemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+e216d562556bb3bad71be848fc68fa1379c2298d	[@DISEASE$, pituitary radiotherapy and late unilateral @PHENOTYPICFEATURE$].	false
+cf84f24627c2cf7ff14d138f36ef0c0cff25138e	@PHENOTYPICFEATURE$ as the only clinical sign of @DISEASE$.	false
+6e0425d2a3cd2d4db046a20c83e3caee6a32f21b	@DISEASE$, @PHENOTYPICFEATURE$, hypercalcemia, polycythemia and gynecomastia have been produced by a wide variety of tumours.	false
+b166a74fa5f826862462e405eb7146e91f75d518	However, severe @PHENOTYPICFEATURE$ was atypical of @DISEASE$.	false
+d1d6aa42c371da7b97ce4c706e40d3e8619141da	There was no postoperative paraplegia or @DISEASE$ @PHENOTYPICFEATURE$.	false
+2990f0ae262de09ad4bb958c4b8f2072a332bec9	@DISEASE$ @PHENOTYPICFEATURE$, although a recognized complication of total thyroidectomy, is an outcome that all endocrine surgeons try to avoid.	false
+a9dbee644e3ccd512ad56be9f4ea91e5312385fe	@DISEASE$ ocular @PHENOTYPICFEATURE$ were not encountered.	false
+1564b2ba5670f461bfe162acb542270613eb8513	@PHENOTYPICFEATURE$ was observed in four patients; growth hormone deficiency, in two; @DISEASE$ diabetes insipidus, in one case.	false
+5e61eada2389cfdef7cbaeb912a7210c2364ebfd	No differences were seen in the operating times, transient and @DISEASE$ @PHENOTYPICFEATURE$, or recurrent nerve palsy.	false
+060446980a1462fd1af2d49bc92d443b0e7295a4	Chemoradiation-associated morbidities included oral mucositis, bilateral vocal cord palsy, esophageal stricture, carotid artery blowout, and @DISEASE$ hypothyroidism and @PHENOTYPICFEATURE$.	false
+35bf9c5158b30ff268575ed95260a4646c48a2c0	Homozygous mutations in NEUROD1 are responsible for a novel syndrome of @DISEASE$ neonatal diabetes and @PHENOTYPICFEATURE$.	false
+f8c1b311cc3ce94688f7ae6cd5cc77b3d6cff2d2	At the same time, chronic and @DISEASE$ @PHENOTYPICFEATURE$ are much less frequently encountered.	false
+9c253aec63b477a9aa9e066aa95b58e631d408c2	Although CRMO is rare mainly because most of the cases go undiagnosed, prognosis is good without @DISEASE$ @PHENOTYPICFEATURE$.	false
+8657422920f8515cd29f575555dbe0b9984e538d	Post-operative clinical outcomes including new onset @PHENOTYPICFEATURE$, visual impairment, and @DISEASE$ diabetes insipidus (DI) were comparable between the two groups.	false
+bab10245c1602e1d900249a83a56ed56899e8871	The proband had @DISEASE$ with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, @PHENOTYPICFEATURE$, a hypoplastic mid-face, an ASD and hemangiomas.	false
+45bf85925da6fec842eef399c163b31453a96c77	Pyridoxal-5'-phosphate determination by a sensitive micromethod in human blood, urine and tissues; its relation to @DISEASE$ in neuroblastoma and @PHENOTYPICFEATURE$.	false
+202c8696e84c8032c553236d2cd1fc3401c9caa6	Secondary @DISEASE$ was found in @PHENOTYPICFEATURE$, cytomegalovirus infection, neuroblastoma, vitamin D intoxication and hyperglycinemia.	false
+ce77d270f5123237c4dcbac030c87320af5976f0	We present a case of @DISEASE$ with mucosal @PHENOTYPICFEATURE$ that led to extreme difficulties with airway management.	false
+2380db7279936343f5c393d67a6ab4a6918d3bad	Also, mutations in CUL4B have been implicated in a subset of patients suffering from syndromic X-linked intellectual disability (@DISEASE$ @PHENOTYPICFEATURE$).	false
+07d93c15139c4cbcdad9478283806bfe712faa24	The most common cause of @DISEASE$ was urine flow disorders seen in 53.2% of patients, especially @PHENOTYPICFEATURE$.	false
+b37e6ab757d9253b841f389c4738a8cafb31dd14	Acute kidney injury (@DISEASE$) is common in neonatal @PHENOTYPICFEATURE$ (NE) and is associated with worse outcomes.	false
+bbe7dcd168d6a3ab3dc434fd33a8e5b84ade0d41	Acute kidney injury (@DISEASE$) is a common complication of neonatal @PHENOTYPICFEATURE$ (NE).	false
+38d7d11b93deeba0e61f43e96b667a492a0b8262	Au-Kline syndrome (@DISEASE$, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with @PHENOTYPICFEATURE$.	false
+5c6aafc0f62c17493f515afc57eb34e7fda29e5f	Sham operated mice, or mice with @DISEASE$ in the absence of acute tubular necrosis (@PHENOTYPICFEATURE$; endotoxemia), served as negative controls.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+6eb2ea50dc98c5398774f858dddf690f9d314006	Here we describe studies using 7,12-dimethylbenz(a)anthracene (DMBA) to investigate the role of obesity in DMBA-induced mammary @PHENOTYPICFEATURE$ susceptibility in the female Zucker rat (fa/fa), which is the most widely used rat model of @DISEASE$.	false
+0d5577b0de80046e79f08daf23cdd45e708a78c3	Thus, food intake is differentially affected by @PHENOTYPICFEATURE$ growth in this form of @DISEASE$.	false
+bede90e3f17d9a721948f89c6f7a1cc81586de66	Several animal studies using rodents with diet-induced or @DISEASE$ have also demonstrated that obesity can promote @PHENOTYPICFEATURE$ development.	false
+8fd1f8f19b358bb0fea82e5e211796b7f9400aaf	Mutations that affect any of the proteins involved in this structural axis lead to myofiber degeneration and are associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f446f996814ffa40b9add46ee523cffb07f7334b	Many muscle diseases also affect pulmonary function, including polymyositis/dermatomyositis, @PHENOTYPICFEATURE$, hereditary channel disorders, mitochondrial encephalomyopathies, acid maltase deficiency, and @DISEASE$.	false
+f01bac2c0b9fe35e0f4b4209ba3d02d105f26432	Mutations in SEPN1 have been associated with three autosomal recessive @DISEASE$, including rigid spine @PHENOTYPICFEATURE$, multiminicore disease and desmin-related myopathy with Mallory body-like inclusions.	false
+832d5e318f54840aeb294a949977c9a27aad34c0	Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+85c779158d2a4a3f134dbde3f6141c3f2e62cacf	There is sparse literature on palliative care in NMDs such as Duchenne muscular dystrophy, spinal muscular atrophy, @PHENOTYPICFEATURE$, some @DISEASE$, Pompe's disease and myotonic dystrophy type 1.	false
+f35c6236bc9f3d85874eb690983327091e750fa8	Cigarette smoking is associated with @PHENOTYPICFEATURE$ (@DISEASE$) and increased fracture risk.	false
+d605385ee6fdb83b06d0f2fec2730768b55bbe65	Previous studies have revealed that thalassemia is associated with @PHENOTYPICFEATURE$ (@DISEASE$) and fractures.	false
+0bd2f6cd9bea2cafd66d899f454faeeb4253e16d	@PHENOTYPICFEATURE$ and cortical @DISEASE$.	false
+0f6c3b478696728dc50dc4c9b275093590f290fa	Low vitamin K may be associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1b23b8487f6f1f8164a1b33859164f95033308f0	Haemophilia A and B are associated with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+5eac37eb7ae03f43b6952a59b885c9ef3bf5e6d2	Here, we examine whether these markers are associated with @PHENOTYPICFEATURE$ (@DISEASE$) individually and together.	false
+04aee3eecd0daa25baa14c6098033e2fec88d491	Osteoporosis associated with @PHENOTYPICFEATURE$ (@DISEASE$) and microarchitectural changes puts patients at an elevated risk of fracture.	false
+d78b01bf798294151c8ee8fe1fdebd6cbc2e3ac0	We hypothesized that VLBW is associated with @PHENOTYPICFEATURE$ (@DISEASE$) in adulthood.	false
+71a647217a48501bbd98f6dadd55fb2b97b3e998	However, DM1 is associated with @PHENOTYPICFEATURE$ (@DISEASE$), whereas patients with DM2 generally have normal or increased BMD.	false
+67b48007fa066fc11041acc4075491710b8f91bc	However, DM1 is associated with @PHENOTYPICFEATURE$ (BMD), whereas patients with DM2 generally have normal or increased @DISEASE$.	false
+eac0f4fd19c3d9ae55f54250b56b59bb327d42b0	Whether exposure to passive tobacco smoke is associated with @PHENOTYPICFEATURE$ (@DISEASE$) is unknown.	false
+c3d2a94a8964189f0758103c1f45434bb9a3dcb2	Posterior segment examination of the patient's right eye demonstrated retinal pigment epithelium @PHENOTYPICFEATURE$ and clumping in the central macula beneath a chronic shallow serous retinal detachment (@DISEASE$), confirmed by optical coherence tomography.	false
+f6fe0e883757f621c17c0a1f2d4af4e2316990da	Patients with muscle tension dysphonia displayed an improvement in Cepstral Spectral Index of @PHENOTYPICFEATURE$ speech (@DISEASE$) (P?<?0.05).	false
+12d16da3f725bff27ba885046ea6fcc7d80172a0	A 65-year-old woman had @DISEASE$ with @PHENOTYPICFEATURE$ and IgA paraprotein with kappa type light chain.	false
+d0a3da62b02c66a38a4fc57641345471d46ea63a	Monocytic @PHENOTYPICFEATURE$ in @DISEASE$: clinical response to decitabine therapy.	false
+d174f589bcd0cf0a21db56dd17a4dbd1b6d01937	@DISEASE$ presenting multiple painful @PHENOTYPICFEATURE$ lesions diagnosed as Sweet's syndrome.	false
+99939fb7b85fe3a6d44114ab7a4bd501f25a94e2	@DISEASE$: a rare cause for @PHENOTYPICFEATURE$.	false
+7ab3620cb4e0df9be21b343c8d2c8bae60a391c3	@DISEASE$ is a rare cause of @PHENOTYPICFEATURE$, and diagnosis is frequently delayed.	false
+f2f6b0f27d9915e78958995300c140ae84bca93e	In this paper, four cases with non neurological manifestations are presented (one @DISEASE$, one @PHENOTYPICFEATURE$, one precocious puberty and one gastrointestinal symptoms).	false
+315501b19abfe05e0ea97003f8e02c8777dd93de	Timely diagnosis of @DISEASE$ is not often the case for patients presenting with @PHENOTYPICFEATURE$ (FTT) because of its rarity and lack of specific symptoms.	false
+e4120c0b821daad4ec9c5c5d83efd440bc7b6545	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$.	false
+73b834faa186514983a8e8c38955d72efaa9ad7e	@DISEASE$: a cause of @PHENOTYPICFEATURE$ and a model of partial growth hormone resistance.	false
+4e03fa814ab5e9337a1a02c11feaaed19cdec421	@DISEASE$: a rare and easily overlooked cause of @PHENOTYPICFEATURE$.	false
+78c18b8e0216148ec4f287f6d05a618b33736d71	@DISEASE$ caused by a hypothalamic/chiasmatic astrocytoma is a rare cause of @PHENOTYPICFEATURE$ in children so that diagnosis is frequently delayed.	false
+d63048ab91256a357a1d526d7f1197638d812e36	These disorders include choledochal cyst, cholelithiasis, choledocholithiasis, @PHENOTYPICFEATURE$, Caroli's disease, primary sclerosing cholangitis, disorders of the pancreatobiliary junction, pancreas divisum, and pancreatic duct abnormalities related to @DISEASE$.	false
+b016cb3843b1b327b2c7e5077d537eea9b27aa55	=?13 interventions in 9 patients), post-transplantation anastomotic stenosis (10/4), malignancy (10/5), @DISEASE$ (7/1), @PHENOTYPICFEATURE$ (6/6), anomaly (2/2), leak (4/3), or primary sclerosing cholangitis (PSC) (2/1).	false
+a9c52b1a5af3b68a7d6b4a2e41951a1466c07fd8	Twinkling artifacts were found to be associated with calcified lesions in the liver, gallbladder adenomyomatosis, hepatic bile duct @PHENOTYPICFEATURE$, gallstones and choledocholithiasis, @DISEASE$, urinary stones, encrusted indwelling urinary stents, bowel gas, and metallic foreign bodies.	false
+efdff3a463b13cdf7cbaad210a256c1527facb27	Five modifiable risk factors for development of @DISEASE$ were identified as follows: smoking, @PHENOTYPICFEATURE$, preoperative oral antibiotics, mechanical bowel preparation, and surgical approach.	false
+226b0e5952215279269bd7f3fe122aeb726c74c4	Dose (or dose-rate) volume histograms (DVHs) were calculated for the combinations of @PHENOTYPICFEATURE$ size and isotope, and applied to the developed @DISEASE$ model.	false
+8ff038c1d50ffbf0679c0dd6cb1cce4dbbfe5907	Histopathological examination of the @PHENOTYPICFEATURE$ showed migration of macrophages only in the TCP group, with @DISEASE$ particles remaining at the implantation loci.	false
+1494b13863950c33fea0bff37e5648046815a39c	For both uptake scenarios a considerable reduction of the overall variation of @DISEASE$ and thus an increasing chance of achieving @PHENOTYPICFEATURE$ cure was observed for tumour sizes ranging from microscopic dimensions up to macroscopic diameters, if the targeted radionuclide treatment relies on a (32)P/(33)P cocktail.	false
+d887873a5e65a3bd0d16df8671c4ef5c8254cb20	For both uptake scenarios a considerable reduction of the overall variation of @DISEASE$ and thus an increasing chance of achieving tumour cure was observed for @PHENOTYPICFEATURE$ sizes ranging from microscopic dimensions up to macroscopic diameters, if the targeted radionuclide treatment relies on a (32)P/(33)P cocktail.	false
+ba774051aec2af5d91585bf9c9b46453e1b393a4	The results of our study have shown that the contribution of chemotherapy to the @DISEASE$ in cervical cancer is expected to be clinically detectable in larger and less-radiosensitive @PHENOTYPICFEATURE$.	false
+af6053ad5bcf78f51dbe50c4bf57ddedafe25ce8	About 17% of @DISEASE$ patients present with very early @PHENOTYPICFEATURE$ severe colitis with high mortality.	false
+3813fcf74e45c8eff2cc152d6616652da04800b7	Only three patients had a clinical manifestation of @PHENOTYPICFEATURE$, and one patient associated with @DISEASE$.	false
+2b2e0f69aeb979d1faec39f9dd376959ec5a6f88	They reflect on various neurological diseases such as @DISEASE$, congenital myasthenic syndrome, @PHENOTYPICFEATURE$ and central core disease, paraneoplastic myasthenic syndrome, hereditary migraine and ataxias, hypokalemic periodic paralysis, and bulbospinal muscular atrophy.	false
+2b8b663dcd8b4e9acc0bd34998ccc0139ee03bad	A 47-year-old woman with @DISEASE$ for last 11 years was admitted because of relapsed muscle weakness, @PHENOTYPICFEATURE$ and thrombocytopenia.	false
+11329195eaab878887107d42ad45004036e2637e	A 41-year-old woman with a history of @DISEASE$ was admitted to a local hospital because of severe muscle weakness, ptosis, shortness of breath, @PHENOTYPICFEATURE$, and fever.	false
+324d79e61f7ee5366af5f6c0ee51bc1e2b54e6a0	Stroke, multiple sclerosis, seizure, migraine, restless leg syndrome, Parkinson's disease, Guillain-Barr? syndrome, and @DISEASE$ are the reported neurological diseases, while depression, bipolar mood disorder, anxiety, psychosis, @PHENOTYPICFEATURE$, personality disorders, sexual disorders, sleep disturbance, and eating disorders are the recognized psychiatric presentations in patients with psoriasis.	false
+af71de8a02940598c3e477ba71fdd8157f0ef8a6	A 66-year-old Japanese female with a history of hypothyroidism, colon cancer, pheochromocytoma, and thymoma-associated @DISEASE$ presented with @PHENOTYPICFEATURE$.	false
+52ef7ceeb4ec2164deb1e57a8096f11035c28e92	Conditions as different as heart failure, @DISEASE$, @PHENOTYPICFEATURE$, and skeletal muscle fatigue, may be examples of deteriorated control or function of the RyR.	false
+3bda2eb80508700d22575632b30629d0fc5a176c	Unilateral hirsutism, epithelial naevus, @PHENOTYPICFEATURE$, premature fusion of epiphyses of right leg and @DISEASE$.	false
+c705084b749dce16afa8f42847207eed73778fd5	Although immune-related adverse events may occur at any part of the body, interstitial @PHENOTYPICFEATURE$, colitis, hypothyroidism, liver dysfunction, skin rash, vitiligo, hypophysitis, type 1 diabetes, renal dysfunction, @DISEASE$, neuropathy, myositis, and uveitis are representative.	false
+3e91b522364a627f41fd775730d5cfcfac36a9ce	Pre-existing neuromuscular disease may also have specific anesthetic implications such as cardiorespiratory involvement (eg, myotonia dystrophica), the potential for drug interactions (eg, @DISEASE$) or abnormal responses to commonly used drugs (eg, @PHENOTYPICFEATURE$).	false
+31861c774dd875c078d2aa7dc09af7fbc44e6140	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and @PHENOTYPICFEATURE$ familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including @DISEASE$ and Gaucher disease type IIIC.	false
+9d75195e42c6e09a3e92f7d4b09e75c86afdb3a4	Here we present a 44 year old patient who presented to our hospital with central respiratory failure, @PHENOTYPICFEATURE$, ataxia and parkinsonism and was first diagnosed with @DISEASE$.	false
+f2db0ce8dd4128ee2f78ff8d4da1bfe13c0b49ab	Immunostaining of mouse tumors showed that BARD1 epitopes PVC and @DISEASE$ were specifically upregulated in invasive, but not in confined @PHENOTYPICFEATURE$.	false
+643c058fd4d81e45df07b44e3b24b3b3b7e97eeb	@DISEASE$ (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of @PHENOTYPICFEATURE$, urinary tract and endocrine glands.	false
+a7d3f3a4bd5c43a0c0cd08f1a3c6c08ec2c46b85	Wolfram syndrome (@DISEASE$) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of @PHENOTYPICFEATURE$, urinary tract and endocrine glands.	false
+b8ef112b8ccb79bf099cf2d1cf323a5ea632689e	We report an autopsy case of rapid progressive Waterhouse-Friderichsen syndrome (@DISEASE$) associated with Streptococcus @PHENOTYPICFEATURE$ infection in a previously healthy man.	false
+3636c0ad443b199bf99457346def898a22da0a9c	These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and @PHENOTYPICFEATURE$), and (3) the very small number of published postmortem studies, indicate that @DISEASE$ should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.	false
+2d95b90e62ae758513a89c0eac463ec467d5bb55	Headache may be intrinsically related to sleep (migraine with and without aura, cluster headache, hypnic headache, and @DISEASE$), may cause @PHENOTYPICFEATURE$ (chronic migraine, chronic tension-type headache, and medication overuse headache) or a manifestation of a sleep disorder like obstructive sleep apnea.	false
+5152a2c47a80894fd98cc0bf4ebf96605e36721a	A high index of suspicion for @DISEASE$ syndrome should be given in patients with @PHENOTYPICFEATURE$ and orthopedic complaints.	false
+e2ad69dab7782b4adfae6553c915a534de5198c1	Variables that were associated independently with @DISEASE$ included higher grade meconium, growth restriction, @PHENOTYPICFEATURE$, oligohydramnios, male sex, fetal bradycardia, maternal pyrexia and increased uterine contractility.	false
+9d8fa0e9ee7791c8c956a8952fbdf1fa3f574dff	@DISEASE$ (HIES) is a rare primary immunodeficiency characterized by @PHENOTYPICFEATURE$ with abscesses, recurrent pneumonias with pneumatoceles, and immunoglobulin E levels of >10 times the upper limit of normal.	false
+cec471fdd04f7b0db6bd6968403edcdcc3e4dd7e	Hyperimmunoglobulin E syndrome (@DISEASE$) is a rare primary immunodeficiency characterized by @PHENOTYPICFEATURE$ with abscesses, recurrent pneumonias with pneumatoceles, and immunoglobulin E levels of >10 times the upper limit of normal.	false
+623b35c1c4f4318eaa46fdb75bd84fd91a26fc04	@DISEASE$ is characterized by immunologic and non-immunologic findings such as recurrent sinopulmonary infections, @PHENOTYPICFEATURE$, multiple fractures, atopic dermatitis and characteristic facies.	false
+00571fe8fe6e42de1f423cfb2879dc8dcd640179	Reports that compared therapeutic hypothermia with normal care for neonates with @DISEASE$ and that included data on safety or @PHENOTYPICFEATURE$, which is of interest to patients and clinicians, were selected.	false
+df0490e2c7cc29bd4cc881ac12fbbad767623e2a	Hyper-IgE syndrome (@DISEASE$) caused by loss-of-function (LOF) mutations in STAT3 gene (STAT3 LOF HIES) is associated with dental and @PHENOTYPICFEATURE$ in addition to immunological defects.	false
+d2502aedc69ffb0ab6892b15d1a80605ba7c8b4e	@DISEASE$ (HIES) caused by loss-of-function (LOF) mutations in STAT3 gene (STAT3 LOF HIES) is associated with dental and @PHENOTYPICFEATURE$ in addition to immunological defects.	false
+7870e788efe0b73691bd47bd18ef45586aba9167	We report 21 years old patient with @DISEASE$, diagnosed at age of 6 years on the basis of hyperimmunoglobulinaemia E and recurrent pulmonary and @PHENOTYPICFEATURE$.	false
+3799f0eb21de5331ccb24a64f3f997fbeba92813	Hyperimmunoglobulin E syndrome (@DISEASE$) is a rare immunodeficiency associated with elevated serum IgE levels, @PHENOTYPICFEATURE$ skin, recurrent cutaneous infections, and distinctive musculoskeletal features.	false
+cef8386ded4aaba5996643084c2d1441c08f61c3	@DISEASE$ (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+30ba491fc0aa93a0335a8d798a9102663bde4d3b	Hyperimmunoglobulin E syndrome (@DISEASE$) is a rare immunodeficiency associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+efd7fe40b220d57ad1f09c48553104f63dc9e426	@DISEASE$ (HIES) is a rare immunodeficiency associated with elevated serum IgE levels, @PHENOTYPICFEATURE$ skin, recurrent cutaneous infections, and distinctive musculoskeletal features.	false
+0cefaba64d1ff74109f5671d2a783c0e95f17605	A locus for type II Usher syndrome (classical RP combined with congenital @DISEASE$ @PHENOTYPICFEATURE$, and normal vestibular function) has now been established on the long arm of chromosome 1 (Kimberling et al. 1990).	false
+6c5c77814490a7b52786805c401bd34079087096	In addition, pale skin, eyelid and @DISEASE$ edema, cryptorchidism and @PHENOTYPICFEATURE$ were present.	false
+3f80acdf2eeb2a613d452360082bb8535ff3d917	The prevalence of @DISEASE$ edema (PE) and its associations with abnormal cardiac structure/function, natriuretic peptides, and incident @PHENOTYPICFEATURE$ (HF) is unknown, especially in community-dwelling adults without a history of cardiovascular disease.	false
+3e286507a44138e79149ed776768b997512e7538	Phosphoprotein enriched in diabetes gene product (@DISEASE$/PEA-15), an anti-apoptotic protein involved in type 2 diabetes mellitus (T2DM), is overexpressed in PCOS women, independently of @PHENOTYPICFEATURE$.	false
+a74bf9d4c7c482775a973c8caa82b8e597a4c7da	This entity presents a diagnostic challenge because many women in the last month of a normal pregnancy experience dyspnea, fatigue, and @DISEASE$ edema, symptoms identical to early @PHENOTYPICFEATURE$.	false
+3b74eba227e1c2f3b020bdfe29ded38d75ce9c85	One 53-year-old male was referred with a history of sensitive @PHENOTYPICFEATURE$ and @DISEASE$ leading to suspect a Sj?gren syndrome (SS).	false
+61f0bbb15c23151ab9b01aaafef90ae16db7c511	@DISEASE$, disseminated @PHENOTYPICFEATURE$ skin lesions correlated with CT-shown focal damage to the brain.	false
+ac781877fbb7d6aeb5750920ebfe0999f093646c	Cryoglobulinemic vasculitis is a systemic vasculitis resulting from circulating immune complex deposition in the small vessels and is characterized by variable clinical features, including purpura, @DISEASE$, ulcerations, arthralgia, glomerulonephritis, and @PHENOTYPICFEATURE$.	false
+26ad22a8ff95a089a67d2dbf8f1964a283db8991	Extrathoracic manifestations associated with pulmonary involvement can give an indication to the diagnosis: myalgias, polyarthralgias, @DISEASE$, erythematous @PHENOTYPICFEATURE$ with fissures and fever.	false
+d4d63fe22223b012f6e9f59f8e0effedcbb85315	Extrathoracic manifestations associated with pulmonary involvement can give an indication to the diagnosis: myalgias, polyarthralgias, @DISEASE$, @PHENOTYPICFEATURE$ palmar hyperkeratosis with fissures and fever.	false
+1be452ea7f69aebf00b6bbb4704e1eedc52e00f3	Characteristic of SLE were skin @PHENOTYPICFEATURE$, alopecia, @DISEASE$, cerebrovasculitis, lymphadenopathy, pneumonitis, frequent articular lesions, leucopenia, high IgG levels, CP and antibodies to DNA.	false
+064ebec8fd0c55d05113edfa6b2d8ed0091443b0	All patients were examined carefully for clinical manifestations of cryoglobulinemia (e.g., palpable purpura, @DISEASE$, arthritis, @PHENOTYPICFEATURE$, Sj?gren's syndrome, glomerulonephritis).	false
+32e804c27f307e52ce6eee14f7cb53d2d77917b8	A 42-year-old woman with @DISEASE$ developed bilateral severe capsulorhexis @PHENOTYPICFEATURE$ after uneventful phacoemulsification cataract surgery with implantation of 1-piece (polymethyl methacrylate) intraocular lenses (IOLs).	false
+8038a28a50dace561dd97fe836003a12f5afcf1d	This @PHENOTYPICFEATURE$, when associated with @DISEASE$, is more frequently multiple than single.	false
+eb99fc6b2d2603036f66843a030954fedfa5aa93	We discuss the implications of these findings with respect to reproductive defects in men, including patients suffering from isolated @PHENOTYPICFEATURE$ and @DISEASE$ type I.	false
+2d30cb466c1d26a0a36ffc8c1d301f52e9066222	The positive and equivocal test results, in addition to the slight @PHENOTYPICFEATURE$, may be accounted for by the electrical after-activity in the cases of pure myotonia, and by increased resting myoplasmic [Ca2+] in @DISEASE$.	false
+3d944920554038191f6669c13f43cb2e2a79e116	The association of @DISEASE$ with cutaneous @PHENOTYPICFEATURE$ is not fully understood.	false
+ea4b6f2e4648a46fc0136918bd165333dccc7a81	The Authors report the case of a 50-Year-old man with @DISEASE$, who developed severe bilateral capsulorhexis @PHENOTYPICFEATURE$ after uneventful cataract surgery.	false
+856ede40b7f2405791c7d27f7c5737cfacfab95d	Benign @PHENOTYPICFEATURE$ in @DISEASE$ type I target disease-related cancer sites.	false
+8a8cf2d006e6da20bfa9f5d51437f817a9f10884	Patients with velopharyngeal insufficiency (VPI) without @PHENOTYPICFEATURE$, who appear for the first time in adulthood for treatment, will probably reveal a high percentage of undiagnosed @DISEASE$ (MD).	false
+6e724af085aa592d12bb5ce1b4da1a6853d79de3	Recurrent posterior capsular opacification and capsulorhexis @PHENOTYPICFEATURE$ after cataract surgery in @DISEASE$.	false
+611f01d815a4a1c147aeb27451a90f1501641181	Correlates of @PHENOTYPICFEATURE$ development in patients with @DISEASE$.	false
+ff22d78c2db3f2e03d39fe676ccfcf43a1814db4	Prominent clinical features included abdominal pain, elevated liver transaminases, serpiginous @DISEASE$ lesions, pericapsular hematoma, and marked peripheral @PHENOTYPICFEATURE$.	false
+7beef5f5e5cb99646c519d0c27753ccbcfeed7cf	@DISEASE$ sulfate deficiency in periocular mesenchyme causes @PHENOTYPICFEATURE$ and ciliary body dysgenesis.	false
+cb64431d216dc6bd3bd044cce8b49f2b36fce5f1	Combinations of additional features such as polydactyly, ocular coloboma, @PHENOTYPICFEATURE$, renal disease, @DISEASE$ fibrosis, encephalocele, and other brain malformations define clinical sub-types.	false
+a04c156388d485668556ad20cc2606ed94a88896	@PHENOTYPICFEATURE$ in patients with @DISEASE$ cirrhosis.	false
+925ca8c10e6db3c510512c72ef22d5547bb1b451	Factors such as hypo-perfusion, @PHENOTYPICFEATURE$, infections and some others can cause @DISEASE$ injury and hepatic shock.	false
+df4fa08309050be20a1bff8939a8b7258a7d65d0	Dogs fed standard dog chow after Eck fistula manifest anorexia, @PHENOTYPICFEATURE$, @DISEASE$ atrophy and encephalopathy.	false
+82dfaa0bcea5cea2987b5cc763b1025b721fdd07	[Fatal @DISEASE$ failure due to AL amyloidosis in a patient with @PHENOTYPICFEATURE$].	false
+a538544964136d820a2cbaca8242806e4107bb84	Other supportive measures may be necessary to control seizures, renal failure, @PHENOTYPICFEATURE$, or @DISEASE$ involvement.	false
+9f78aa4f24a0099f87f3e1425626fae230a2c111	@PHENOTYPICFEATURE$ were nonspecific, and clinical evidence of renal or @DISEASE$ failure was rare.	false
+b4dcab380ef18b4fee9d3b42c26d58c4d9c58315	After primary radiation therapy, the patient manifested fever, @PHENOTYPICFEATURE$, thrombocytosis and @DISEASE$ dysfunction.	false
+e5a47ae35d17a3d4c74abef15772be405dd8c768	MWCNT-7 has been shown to induce @DISEASE$ when administered by intrascrotal or intraperitoneal injection in rats and mice, and an inhalation study demonstrated that rats exposed to respirable MWCNT-7 developed @PHENOTYPICFEATURE$.	false
+89a67d7734e23718037239c5c278781ac2716a55	Herein is presented a rare case of coalescent @PHENOTYPICFEATURE$ made up of a @DISEASE$ and a pulmonary adenocarcinoma in a 62-year-old Japanese man, a high-school teacher with only minor asbestos exposure.	false
+53d060dab85ddc69007524bffa30b2ff8d741bf0	In conclusion, administration of MWCNT to the lung in the rat induces @DISEASE$ and @PHENOTYPICFEATURE$.	false
+0b624bf50d5e042fcb0905cbe5d9b9289b9ec391	The incidences of @DISEASE$ and @PHENOTYPICFEATURE$ (bronchiolo-alveolar adenomas and carcinomas) were 6/38 and 14/38, respectively, in the three groups administered MWCNT and 0/28 and 0/28, respectively, in the control groups.	false
+46815e74e9ae25e2b4948c0dde3dddbe9fb77abd	MWCNT-N, which is similar to MWCNT-7, was shown to induce both @PHENOTYPICFEATURE$ and @DISEASE$ in rats when administered by trans-tracheal intrapulmonary spraying (TIPS).	false
+22ca451dddea0715b3b0675ff74f361c6f21bc3e	Primary diaphragmatic @DISEASE$ is very rare and may involve liver or lung tissue and be mistaken for liver or @PHENOTYPICFEATURE$.	false
+f98c84d4c6f111cfa649158550dfaf64df3ce7b3	The causes of pleural effusion were non-small cell lung cancer (18 cases), small cell lung cancer (6 cases), @DISEASE$ (2 cases), metastatic @PHENOTYPICFEATURE$ (5 cases), thymoma (1 case), malignant lymphoma (1 case), and pleuritis tuberculosa (7 cases).	false
+4cc1c1ee8a9c8f0bb55aef5e55a3c87becbb677b	Clinical, morphological and prognostic features of the diagnosis are compared with the findings in Goodpasture's syndrome with progressive @PHENOTYPICFEATURE$ and with the findings in @DISEASE$.	false
+e3961b0a3339d034fd7beb798c9f0eaf93443e66	Of them, 31 were normal senile subjects, 33 were senile diabetic patients without @DISEASE$ were senile diabetic patients with @PHENOTYPICFEATURE$, and 30 were senile non-diabetic patients with cataract.	false
+570dd81a407c5c72b89373b65c6536ef4fa0cf6f	Of them, 31 were normal senile subjects, 33 were senile diabetic patients without @DISEASE$ were senile diabetic patients with cataract, and 30 were senile non-diabetic patients with @PHENOTYPICFEATURE$.	false
+7234012cf28d1099b4115497fc0ed3592b0405ba	Actuarial complication rates at 2 and 5 years were 33% and 88%, respectively, for radiation-induced retinopathy; 9.3% and 46.9%, respectively, for dry eye; 12% and 53%, respectively, for @DISEASE$% and 90%, respectively, for @PHENOTYPICFEATURE$ [Snellen acuity (decimal equivalent), <0.1]; 11% and 54%, respectively, for optic neuropathy; and 18% and 38%, respectively, for neovascular glaucoma.	false
+5cfe560871986cd9af4e1500133f465b1dc8ba94	Among them, 33 were diabetic patients without any clinical evidence of chronic diabetic complications, 32 with cardiovascular complications, 30 non-diabetic patients with cardiovascular complications, 30 diabetic patients with @DISEASE$ non-diabetic patients with @PHENOTYPICFEATURE$, and 31 apparently normal, age, gender, and weight matched control subjects were investigated.	false
+91db5e89596388d520bfdcede496f4aa4491e442	Aqueous samples from 30 patients with @DISEASE$ patients with PEX Sy, 36 patients with PEX Gl, and 42 patients with primary open-angle glaucoma (POAG) were collected during phacoemulsification @PHENOTYPICFEATURE$ surgery.	false
+b8973f6330c38c296322dd4a4ae33bba357bb4de	Of 89 eyes with uveitis, 22% had @PHENOTYPICFEATURE$ to 20/200 or worse, 46% had @DISEASE$% had band keratopathy, and 27% had glaucoma.	false
+79eed1ae3cd5194450997d64dd64911f1e5c7bf8	A total of 120 patients with @PHENOTYPICFEATURE$ who presented at Songklanagarind hospital, Songkhla province, were enrolled in the study; 30 had age-related macular degeneration (AMD), 30 had @DISEASE$ had diabetic retinopathy, 30 had glaucoma, and 30 non-visually impaired individuals comprised the control group.	false
+f84c72796fdd8b6d3045011aec8d1c2ddc00c103	The 67 recipients had the following indications: @PHENOTYPICFEATURE$ (n = 17), Wilson's disease (n = 15), hepatitis B-related liver cirrhosis (n = 14), hepatitis C-related liver cirrhosis (n = 4), primary biliary cirrhosis (n = 4), hepatitis B-related liver cirrhosis with hepatoma (n = 3), hepatitis C-related liver cirrhosis with hepatoma (n = 2), @DISEASE$ (n = 2), neonatal hepatitis (n = 1), choledochus cyst (n = 1), autoimmune cirrhosis (n = 1), neuroendocrine tumor (n = 1), and hemangioendothelioma (n = 1).	false
+c2a5ee586f7765d917526831e2b571a843f07cc7	The patients were 15 boys and 22 girls aged 7 months to 15 years with @PHENOTYPICFEATURE$ (27), cryptogenic cirrhosis (3), @DISEASE$ (2), progressive intrahepatic cholestasis (2), protoporphyria (1), Wilson's disease (1), and fulminant hepatitis (1).	false
+6d67918b666247ffc9628fec493264f22bf96622	During the last 31 months, 50 children between 3 months and 15 years of age have undergone living related liver transplantation (LRLT) for end-stage liver diseases (39 @PHENOTYPICFEATURE$, 2 @DISEASE$, 2 progressive intrahepatic cholestasis, 3 liver cirrhosis, 1 Wilson disease, 1 protoporphyria, 1 tyrosinemia, and 1 fulminant hepatitis).	false
+5a10bb426e81ca2b033c6aa3c090477a739ef6cd	The underlying causes of liver failure were cryptogenic liver cirrhosis (n=27), viral hepatitis (n= 21) (hepatitis-B-related liver cirrhosis [n=13], hepatitis-C-related liver cirrhosis [n=7], and hepatitis-B- and C-related liver cirrhosis [n=1]), autoimmune hepatitis (n=18), Wilson's disease (n=10), primary sclerosing cholangitis (n=8), @PHENOTYPICFEATURE$ (n=3), @DISEASE$ (n=2), and primary biliary cirrhosis (n=2).	false
+7f6990c9b8dc5e17bd0cb808d361adb48687249b	SVT presents with a lower incidence than deep vein thrombosis of the lower limbs and @PHENOTYPICFEATURE$, with portal vein thrombosis and @DISEASE$ being respectively the most and the least common presentations of SVT.	false
+6b61b4c2bd772bb46ea7dfa7f02c6bd5b81c2984	The cause of portal hypertension was portal vein thrombosis (n = 13), @PHENOTYPICFEATURE$ (n = 3), congenital hepatic fibrosis (n = 2), hepatitis C cirrhosis (n = 1), and @DISEASE$ (n = 1).	false
+cd57a80099b21f6677af060af27f7fa13e5fd502	The 20 pediatric patients (14 @PHENOTYPICFEATURE$, two @DISEASE$, one liver cirrhosis after hepatitis C viral infection (HCV hepatitis), 1 progressive intrahepatic cholestasis, 1 liver cirrhosis, 1 protoporphyria) were transplanted with 11 left lobes, eight left lateral segments, and one right lobe.	false
+50c1dbbc18b3f3914d897f7f6fcd466f0a914f35	The primary liver disease was hepatocellular carcinoma second to viral hepatitis in 15 patients, Wilson disease in 7 patients, cryptogenic cirrhosis in 3, familial hypercholesterolemia in 3 patients, and 1 each patients of Byler disease, Caroli disease, tyrosinemia, @DISEASE$, congenital hepatic fibrosis, alcoholic cirrhosis, and @PHENOTYPICFEATURE$.	false
+35279e741f576cc822c7807461c11f537bbb6943	Motor neuron disease (MND) represents a wide and @PHENOTYPICFEATURE$ expanding group of disorders involving the upper or lower motor neurons, mainly represented by amyotrophic lateral sclerosis (ALS), @DISEASE$, progressive muscular atrophy and progressive bulbar palsy.	false
+2624156685bd3a031d3fd8ed52ee6ea8f76d2790	The system of congenic strains of the laboratory rat carrying the mutant allele lx which is determining the @PHENOTYPICFEATURE$-luxate syndrome (@DISEASE$) was used for testing teratogenicity of six compounds from different pharmacological groups (cyclophosphamide, cyadox, carbadox, imipramine, verapamil, TIA).	false
+fa90f07df67597028de7372f70649d2bb304e365	Genetically controlled morphological variability of the @PHENOTYPICFEATURE$-luxate syndrome (@DISEASE$) of the Norway rat.	false
+d30b26c8c7af6fafc0fe4c9297df68a82f704ae8	Morphometric analysis of malformation manifestations of the mutant allele of the @PHENOTYPICFEATURE$-luxation syndrome (@DISEASE$) in the homozygous and heterozygous state.	false
+c2c7a98f7b4ae7d0ac13d5211ff1e5cab5dc7fd2	Ten PLS patients had abnormal scores in at least one neuropsychological test (@DISEASE$ with @PHENOTYPICFEATURE$, PLS-cd).	false
+e12c531ddaddac9d9c6001ad80eb1a47fc14c7d3	Ten @DISEASE$ patients had abnormal scores in at least one neuropsychological test (PLS with @PHENOTYPICFEATURE$, PLS-cd).	false
+7fa125b86c8b56ad4a077126bc3e5c9b312052c6	The patients were classified according to history, heredity, laboratory, electrophysiologic, histochemistry data and electron microscopy: in myositis with inclusion cytoplasmic bodies (4 cases), juvenile spinal muscular atrophy (6 cases), @DISEASE$ (3 cases), limb-girdle dystrophy (2 cases) and @PHENOTYPICFEATURE$ (1 case).	false
+fea9182cbd41ed537a179cb06d29c64db3f8a67d	Among 1400 muscle biopsies, we found 16 cases with rimmed vacuoles whose diagnosis were sporadic inclusion body myositis (IBM) (4 cases), juvenile spinal muscular atrophy (6 cases), @DISEASE$ (3 cases), limb-girdle muscular dystrophy (2 cases), and @PHENOTYPICFEATURE$ (1 case).	false
+9785527b0f0c6964affe6af0c79b169400d0d950	There is a "@DISEASE$" syndrome in the Han Wistar rat fetus that manifests as characteristic @PHENOTYPICFEATURE$ such as bent and/or short long bones, and is classified as permanent detrimental abnormalities (major malformations).	false
+e44c52c23301797ff38adcb590d3699f1a1d1fdf	@DISEASE$ is the most common hereditary form of dwarfism, and is characterized by short stature, macrocephaly, and a myriad of @PHENOTYPICFEATURE$.	false
+65113f75fe982edcc22438d45f5975983c9700a3	Schwartz-Jampel syndrome (SJS, MIM 255800), also known as @DISEASE$ myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, @PHENOTYPICFEATURE$ and facial dysmorphism.	false
+276d5afc64144763d7313cbeba6988c200a68539	Thus, for example, older PAC is associated with an increased risk of offspring having rare conditions such as @DISEASE$ and Marfan syndrome, as well as with neurodevelopmental disorders such as @PHENOTYPICFEATURE$.	false
+b2dc507f41fc00ecfe7c43bcf2b3af0e885e47f6	@DISEASE$ is a hereditary form of dwarfism caused by a defect in endochondral bone formation, resulting in @PHENOTYPICFEATURE$ including short stature, shortened limb bones, macrocephaly, and small vertebral bodies.	false
+34b9fe223aafd1a362372302152815376de44bfb	During the period of growth depression, food conversion efficiency deteriorated and treated turkeys developed @DISEASE$ @PHENOTYPICFEATURE$ and/or "leg weakness".	false
+a4e0a1d0f15c293854e48272ad37386ffcbecb38	@PHENOTYPICFEATURE$ was a frequent phenotype of @DISEASE$ associated with focal atrophy patterns within the language networks.	false
+6e1405a00e183e8241f650eae7a59000be434df6	@DISEASE$ patients had @PHENOTYPICFEATURE$, with anomia in 73.1% and impaired sentence comprehension in 56%.	false
+9b23ae3794da6a9a69259a93be55f4937324fb44	We describe an ultrasound antenatal diagnosis of the @DISEASE$ with @PHENOTYPICFEATURE$ during the first trimester of pregnancy.	false
+f5718c52282048c21a0766d6bbfe34b29d757b45	Ventriculoperitoneal shunting was followed by resolution of hypocalcemia, but @PHENOTYPICFEATURE$ associated with schizencephaly and recurrent respiratory tract infections, aggravated by @DISEASE$, concurred to infant's demise at the age of 5 months.	false
+25cbe0a985df16e7147bf85108696b4de50236f0	Dysregulation of Notch signaling is associated with diseases affecting human skeletal development, such as Alagille syndrome, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7bc651f9efe731bfb2763aa97a183470c9334a9f	Inherited or sporadic mutations in components of the Notch signaling pathway are associated with @DISEASE$, spondylothoracic dysostosis and recessive @PHENOTYPICFEATURE$, diseases characterized by skeletal patterning defects.	false
+fb9e46d9c4f0b149e9ca84d4567bc076a65651a4	SCM can be associated with other spinal abnormalities such as @PHENOTYPICFEATURE$, Arnold-Chiari malformation, hemivertebra, butterfly vertebra, or kyphoscoliosis and also can be seen as part of @DISEASE$.	false
+6e2e57ce6630cf494c7c80da3fdbf8c16957af14	Two cases of @DISEASE$ associated with multiple congenital @PHENOTYPICFEATURE$ and lacking abnormalities by genomic microarray analysis.	false
+62c3fe10b683100713f9db3cc56762c1eef65e7a	@DISEASE$ is a rare association of congenital cardiopulmonary anomalies; the adult form is not usually is associated with pulmonary @PHENOTYPICFEATURE$.	false
+08cbe4530e1a74114d203d6531fc579db4fa7ca4	@DISEASE$ in infancy is a rare condition, presenting with severe congestive heart failure and pulmonary @PHENOTYPICFEATURE$.	false
+0f93b3cf88a21802bce6c67b1fe08d200d12f770	We investigated concentrations of interleukin (IL)-6, @PHENOTYPICFEATURE$ necrosis factor-? and IL-10 in serum samples obtained from 25 pediatric @DISEASE$ cases and 35 control children with no signs of infection.	false
+b6e64ff45bc50edefa7acc3bc6f4272fbef7f263	The neuroendocrine dysfunctions of the patients were obesity (n = 7), @DISEASE$ (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), @PHENOTYPICFEATURE$ and galactorrhea (n = 1), obesity and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1).	false
+bc4ee8528125a92c8b5109945c03f3699e7795e0	The neuroendocrine dysfunctions of the patients were @PHENOTYPICFEATURE$ (n = 7), @DISEASE$ (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), obesity and galactorrhea (n = 1), obesity and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1).	false
+ac131a509d6a0232fcd7beebda888f75a150f4cb	The neuroendocrine dysfunctions of the patients were obesity (n = 7), @DISEASE$ (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), obesity and galactorrhea (n = 1), @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1).	false
+0aa50972226ac6a4ac6c33b964e3bebb5638a404	The most striking physical findings of these @DISEASE$ individuals are the proportionate short stature, doll facies, high-pitched voice and visceral @PHENOTYPICFEATURE$ with reduced fat-free mass.	false
+a238b03400d2b2b1232de801a98825551ef5142a	Evidence is presented that isolated GH deficiency (@DISEASE$), multiple pituitary hormone deficiencies (MPHD) including GH, as well as primary IGE1 deficiency (GH resistance, Laron syndrome) present signs of early ageing such as thin and wrinkled skin, @PHENOTYPICFEATURE$, hyperglycemia and osteoporosis.	false
+1c92e52f458a93323b3f57ecc778fa6718dc742c	We report one case of phenytoin-induced @DISEASE$ in a 34-year-old man, previously on phenytoin for @PHENOTYPICFEATURE$ prophylaxis, who presented to the ED with 5 days of worsening symptoms including generalized rash, fever, tongue swelling, and dysphagia.	false
+d36b33d2ad188f255fb2f3fd5133e7158bbcad2e	We report the association of an undescribed, reversible @PHENOTYPICFEATURE$ (RMD) with @DISEASE$ (APECED) in two patients, one homozygous and one heterozygous for a 13-bp deletion in exon 8 of the autoimmune regulator (AIRE) gene.	false
+991aa93646f2dc6c734ab6718ba5001b564d8da2	Mouse @DISEASE$ deficiency causes severe growth retardation, @PHENOTYPICFEATURE$, and modest lethality.	false
+18b212600a064674b2bb0dd5536c48bebb9736a9	Mutations in the myosin VIIa gene (MYO7A) cause @DISEASE$B (USH1B), a major type of the @PHENOTYPICFEATURE$-blind disorder, Usher syndrome.	false
+e7400a499004a39eabdb92dd24885b8ff401c25c	@DISEASE$ (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe @PHENOTYPICFEATURE$, retinitis pigmentosa, and vestibular dysfunction.	false
+f6a1d766c8b67457fda53659dd21ab30932f5e5d	In humans, mutations in the gene encoding myosin VIIa can cause @DISEASE$b (USH1B), a disease characterized by @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+8edf98675d657e98cbdd5bc9c0a476c8284463a8	@DISEASE$ (USH1) associates severe @PHENOTYPICFEATURE$, vestibular dysfunction and progressive retinitis pigmentosa leading to blindness.	false
+e97bd4c4bb25035d077cf95041fc21f5b2eb6a1e	Mutant alleles of the gene encoding cadherin 23 are associated with @DISEASE$ (USH1D), isolated @PHENOTYPICFEATURE$ (DFNB12) in humans, and deafness and circling behavior in waltzer (v) mice.	false
+2b3d0708a7d1ecf1587f78fe304923155547ceac	Mutant alleles of the gene encoding cadherin 23 are associated with @DISEASE$ (USH1D), isolated deafness (DFNB12) in humans, and @PHENOTYPICFEATURE$ and circling behavior in waltzer (v) mice.	false
+5f4ba774f43c19c698a93f86be5c609f7e4c49ac	@DISEASE$ (USH1) patients suffer from sensorineuronal @PHENOTYPICFEATURE$, vestibular dysfunction, and visual impairment.	false
+7d7d6d6797f055d7e37f42c20e766131fc0837bb	@DISEASE$B, which is characterized by @PHENOTYPICFEATURE$ and progressive retinal degeneration, is caused by the loss of the function of MYO7A.	false
+c5a9f927334291bac9f3249793e874ecb220811a	@DISEASE$ (USH1) is the most severe form, characterised by profound @PHENOTYPICFEATURE$ and vestibular dysfunction.	false
+7f06491c7af16cbbd6d6a1ea6bd42a5c8c1afca0	@DISEASE$B is a combined @PHENOTYPICFEATURE$-blindness condition caused by mutations in the MYO7A gene.	false
+7dbd2522beb5d811336a34169e7cb3093b7d35dd	Myosin VIIA is an unconventional myosin that has been implicated in @DISEASE$B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant @PHENOTYPICFEATURE$ (DFNA11).	false
+b07e2440dab324cc1398a59b06f85bd0c21ac35b	Myosin VIIA is an unconventional myosin that has been implicated in @DISEASE$B, atypical Usher syndrome, non-syndromic autosomal recessive @PHENOTYPICFEATURE$ (DFNB2) and autosomal dominant hearing impairment (DFNA11).	false
+49be5f30b92130edc466ab56fa8e3a77ce791631	@PHENOTYPICFEATURE$ in patients with @DISEASE$ according to karyotype: own experience and literature review.	false
+f835bdb509302e6f5584d650510eeb17ecb72694	Frequency of @PHENOTYPICFEATURE$ in @DISEASE$: analysis of 82 Turkish children.	false
+9c7a29e570e8295137a6efe2bf005681b2e3f96d	@DISEASE$ is well known to be associated with significant @PHENOTYPICFEATURE$.	false
+ef51492901225ef848efd128a94fa1599dfe40cf	Horseshoe @PHENOTYPICFEATURE$ in @DISEASE$ is not associated with HNF-1beta gene mutations.	false
+25e77309c54bc4a3aa35fca69f31bf70c6675021	@PHENOTYPICFEATURE$ in patients with @DISEASE$: imaging in 141 patients.	false
+4dc5c58e9cb15308c7bf8cffcafe435796b31638	[@DISEASE$: clavicle bifida, pterygium axilla, @PHENOTYPICFEATURE$].	false
+1605d82f37dac04d0e9b95ad5e695145ab215f91	[@PHENOTYPICFEATURE$ in Ullrich-@DISEASE$].	false
+fbc3d0bdb80ab74ee47650e825e401db4d4c6ec3	Prevalence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+febd308374f031edd743bf5fbd2d04ce4fd4185e	Cardiovascular and @PHENOTYPICFEATURE$ are well-known in @DISEASE$.	false
+48b11b0ba60b828963d2cb5d60985cf389a26623	Collectrin gene screening in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+cf705fcfb6c288f1722f1c3cdd1df07ff0b4ee69	A 50-year-old man with Usher's syndrome, progressive retinitis pigmentosa, and congenital sensoneural @PHENOTYPICFEATURE$ developed @DISEASE$.	false
+3a653bda19a3ffa5df9139b49167a7b90704078a	@DISEASE$ and @PHENOTYPICFEATURE$ in monozygotic twins.	false
+fc537786beacee48d0a0f448e79126644fca0975	Clinico-laboratory and radionuclide (radio-hepatography with 131I-rose bengal and liver scanning with 198Au colloid solution) investigation of liver function was performed in 110 patients with @DISEASE$ during exacerbation, in 16 patients with symptomatic erythrocytosis (10--chronic pulmonary disease, 3--polycystic kidney, 2--@PHENOTYPICFEATURE$, 1--peptic ulcer), and in 11 patients with a polycythemic form of myelofibrosis.	false
+a0c5cef09c37f0e4489e9bb7595d3047be7dfd85	A 48-year-old woman with @DISEASE$ developed cardiotoxicity manifested by @PHENOTYPICFEATURE$ and palpitations.	false
+237bff2d89fee2b212bc0099d9f47f3b07682cda	Several nonmotor symptoms (@DISEASE$) such as constipation, psychosis, fatigue, @PHENOTYPICFEATURE$, drooling, excessive sweating, depression, and postural giddiness were significantly higher in the FOG (+) group.	false
+81f51c614ea3e659838caa37b5a926a813ff27b7	Catel-Manzke syndrome has overlapping features with @DISEASE$ due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by @PHENOTYPICFEATURE$, joint dislocations, brachydactyly and cleft palate.	false
+ab3758edc2c142de47b9cfd68fb7259bfa9d9067	For examination of the effect of IL-2 gene transfer on the antitumor activity of MRK16 against P-glycoprotein-positive @PHENOTYPICFEATURE$, IL2-AD10 cells were co-transplanted s.c. with AD10 cells into nude mice in a ratio of 1:3, and the mice were treated with MRK16 on days 2 and 7. MRK16 markedly inhibited the growth of AD10 cells mixed with IL2-AD10 cells under conditions (0.3-1 microgram/body) where it showed only marginal effects on the growth of @DISEASE$ tumors.	false
+0b151267a87a9d026ba91ea56de1ae2cac9ee15b	For examination of the effect of IL-2 gene transfer on the antitumor activity of MRK16 against P-glycoprotein-positive tumors, IL2-AD10 cells were co-transplanted s.c. with AD10 cells into nude mice in a ratio of 1:3, and the mice were treated with MRK16 on days 2 and 7. MRK16 markedly inhibited the growth of AD10 cells mixed with IL2-AD10 cells under conditions (0.3-1 microgram/body) where it showed only marginal effects on the growth of @DISEASE$ @PHENOTYPICFEATURE$.	false
+155659e8cbab7cadad1a17651e1668103eb4feb0	Systemic administration of MRK17 resulted in significant dose-dependent inhibition of subcutaneous growth of ML-@DISEASE$ @PHENOTYPICFEATURE$.	false
+3f19b05559efaaef6c961b52007468d750faab6c	X-linked retinoschisis (@DISEASE$) is a relatively rare vitreoretinal dystrophy that causes @PHENOTYPICFEATURE$ in young men.	false
+a3c931744406e423829b84b61ef6303df4bfb427	X-linked juvenile retinoschisis (@DISEASE$) occurs exclusively in males and is characterized by @PHENOTYPICFEATURE$ that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading.	false
+e6877a417ac3b8a70b94bee5d461cde2fc6aba29	@DISEASE$ (XLRS) occurs exclusively in males and is characterized by @PHENOTYPICFEATURE$ that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading.	false
+8250986c3d672dbb1dd98cd69e3377af2abf269d	Hereby, we infer that the multisystemic defects harbored by the patient are a rare coexistence of @DISEASE$, developmental delay, @PHENOTYPICFEATURE$, and reduced axial tone reported for the first time in the literature.	false
+c9f9b78167dd2a6c927aa125d689c5c9c4618258	In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, @DISEASE$, Stargardt disease, blepharophimosis-@PHENOTYPICFEATURE$-inverse epicanthus syndrome and retinoblastoma.	false
+a63821148e4f42eca2d8fee2736c947fc2ee85c3	Mutations in the retinoschisin gene, RS-1, cause @DISEASE$ (XLRS), a dystrophy characterized by delamination of the inner retinal layers, leading to @PHENOTYPICFEATURE$.	false
+06e465b2498e5c6cdd21724b262b5a19035e9374	Mutations in the retinoschisin gene, RS-1, cause juvenile X-linked retinoschisis (@DISEASE$), a dystrophy characterized by delamination of the inner retinal layers, leading to @PHENOTYPICFEATURE$.	false
+2d6c2ab208bea4f7089340f31b6568f8c382d46b	interval is a focus of interest as a number of hereditary disease loci have been mapped to this region, including X-linked nonsyndromic @PHENOTYPICFEATURE$ (DFN6), @DISEASE$ (RS), and several X-linked mental retardation syndromes.	false
+7863eba11e9e9ca5b5f9bf08e939e46a1f40765a	Lamellar macular holes are rare and have never been reported to cause early onset @PHENOTYPICFEATURE$ in @DISEASE$.	false
+95ef8b21798156e2a5286e67ec2c18d44547992e	Mutations in the gene encoding RS1 are responsible for @DISEASE$, a retinal degenerative disease characterized by the splitting of the retinal cell layers and @PHENOTYPICFEATURE$.	false
+0e32695e8f0a9919a18c4367c443f8796e648212	@DISEASE$ is a rare hereditary retinal disease characterized by a tangential splitting of the neurosensory retina which may cause early-onset @PHENOTYPICFEATURE$.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+b74eea8e2f01b243a914a72d1fdd875076330aa3	@DISEASE$ (ACC) is a malignant endocrine @PHENOTYPICFEATURE$.	false
+0e4a769b034800e16cf16eee207cad3b0d179235	@DISEASE$ is a rare and aggressive @PHENOTYPICFEATURE$.	false
+1704cff01a5d7ad27067d84b9456c34b49611cf4	@DISEASE$ with @PHENOTYPICFEATURE$-induced hypoglycaemia.	false
+045c9e2c68a148365bb2c05ef3f7e154cbd2c83a	The @PHENOTYPICFEATURE$ was diagnosed as @DISEASE$.	false
+3317cd3ad4fc0c96b95e715239b17efbbafc4aa6	databases using the keyword "metformin" plus the following terms: "thyroid cancer," "thyroid nodules," "parathyroid," "hyperparathyroidism," "adrenal adenoma," "Cushing syndrome," "hyperaldosteronism," "@DISEASE$," "neuroendocrine tumor (NET)," "pancreatic NET (pNET)," "carcinoid," "pituitary adenoma," "pituitary neuroendocrine tumor (PitNET)", "prolactinoma," "pheochromocytoma/@PHENOTYPICFEATURE$."	false
+cc7df3a893efc8f0fe560217cb81b5ea4aac29d7	databases using the keyword "metformin" plus the following terms: "thyroid cancer," "thyroid nodules," "parathyroid," "hyperparathyroidism," "adrenal adenoma," "Cushing syndrome," "hyperaldosteronism," "@DISEASE$," "neuroendocrine tumor (NET)," "pancreatic NET (pNET)," "carcinoid," "pituitary adenoma," "pituitary neuroendocrine tumor (PitNET)", "prolactinoma," "@PHENOTYPICFEATURE$/paraganglioma."	false
+ef02c2405f87c23320ca87590641c3955d665986	[@DISEASE$ causing @PHENOTYPICFEATURE$].	false
+ccaf6c1952588aad1ed2469436671881554ea285	[The @DISEASE$, a @PHENOTYPICFEATURE$ of wide clinical diversity].	false
+b15985c6419904312d8fd7032ddb89551a3ed2d9	@DISEASE$ (ACC) is an extremely rare @PHENOTYPICFEATURE$.	false
+9773c9f80f6043a9531bf9915994a180982dc6e7	One @PHENOTYPICFEATURE$ was a masculinizing @DISEASE$.	false
+7c00ea04da4278901d128b73a422e6a2e5b82abc	We further present a literature review for @PHENOTYPICFEATURE$ and segmental variants of @DISEASE$.	false
+d6142f0911a08a5fc0f380cbcd458b8b4eb65723	Those findings were consistent with the diagnosis of segmental @PHENOTYPICFEATURE$ @DISEASE$.	false
+93b2305d24b51cd8fdaf08899127d67cce77f351	@DISEASE$ (Keratosis follicularis) a dominantly inherited keratinizing disorder of the skin, is associated with the development of severe, progressive viral and bacterial @PHENOTYPICFEATURE$.	false
+81aadde683a78c23a5b380e8c33ee00304c71bb9	Darier's disease (@DISEASE$) a dominantly inherited keratinizing disorder of the skin, is associated with the development of severe, progressive viral and bacterial @PHENOTYPICFEATURE$.	false
+123359c4bd76051b0c4b6c8457df16f4947d6478	Destruction of epidermal barrier function associated with atopic dermatitis or @DISEASE$ often causes severe secondary @PHENOTYPICFEATURE$.	false
+c91ec8f027443f9a1b9e0e11297994dd314715a5	In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides and subacute cutaneous lupus erythematosus), papulosquamous/papulokeratotic dermatoses (lichen planus, pityriasis rosea, papulosquamous sarcoidosis, guttate psoriasis, pityriasis lichenoides chronica, classical pityriasis rubra pilaris, porokeratosis, lymphomatoid papulosis, papulosquamous chronic GVHD, parakeratosis variegata, Grover disease, @DISEASE$ and BRAF-inhibitor-induced acantholytic dyskeratosis), facial inflammatory skin diseases (rosacea, seborrheic dermatitis, discoid lupus erythematosus, sarcoidosis, cutaneous leishmaniasis, lupus vulgaris, granuloma faciale and demodicidosis), acquired keratodermas (chronic hand eczema, palmar psoriasis, keratoderma due to mycosis fungoides, keratoderma resulting from pityriasis rubra pilaris, tinea manuum, palmar lichen planus and aquagenic palmar keratoderma), sclero-atrophic dermatoses (necrobiosis lipoidica, morphea and cutaneous lichen sclerosus), @PHENOTYPICFEATURE$ macular diseases (extragenital guttate lichen sclerosus, achromic pityriasis versicolor, guttate vitiligo, idiopathic guttate hypomelanosis, progressive macular hypomelanosis and postinflammatory hypopigmentations), hyperpigmented maculopapular diseases (pityriasis versicolor, lichen planus pigmentosus, Gougerot-Carteaud syndrome, Dowling-Degos disease, erythema ab igne, macular amyloidosis, lichen amyloidosus, friction melanosis, terra firma-forme dermatosis, urticaria pigmentosa and telangiectasia macularis eruptiva perstans), itchy papulonodular dermatoses (hypertrophic lichen planus, prurigo nodularis, nodular scabies and acquired perforating dermatosis), erythrodermas (due to psoriasis, atopic dermatitis, mycosis fungoides, pityriasis rubra pilaris and scabies), noninfectious balanitis (Zoon's plasma cell balanitis, psoriatic balanitis, seborrheic dermatitis and non-specific balanitis) and erythroplasia of Queyrat, inflammatory cicatricial alopecias (scalp discoid lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia and folliculitis decalvans), nonscarring alopecias (alopecia areata, trichotillomania, androgenetic alopecia and telogen effluvium) and scaling disorders of the scalp (tinea capitis, scalp psoriasis, seborrheic dermatitis and pityriasis amiantacea).	false
+cf6fc33a9fad0b6e9a60b9dd214661dd059a7ace	To our knowledge, this is the first case reporting a combined segmental and @PHENOTYPICFEATURE$ variant of @DISEASE$.	false
+5c1525f2f0326124ddebbf3c750ddda742ff2511	@DISEASE$: a case with @PHENOTYPICFEATURE$.	false
+e2674971525c00fe779e0a02002db73da2a6da43	Individual components of this syndrome may appear as isolated conditions, including fibromuscular dysplasia, brachydactyly, @PHENOTYPICFEATURE$, and @DISEASE$, and are autosomal dominant traits in many cases.	false
+c44115ae357625c5a44a6ea185d3c53ba5007cd9	Individual components of this syndrome may appear as isolated conditions, including fibromuscular dysplasia, @PHENOTYPICFEATURE$, syndactyly, and @DISEASE$, and are autosomal dominant traits in many cases.	false
+b80ca48fc18c17edc1f87c95fdcedc36076e8818	We report here our complete series of amniotic fluids between 14 and 36 weeks of gestation from 52 normal pregnancies and 28 abnormal pregnancies including anencephaly, open @PHENOTYPICFEATURE$, Turner's syndrome, omphalocele, @DISEASE$ congenita, meningomyelocele, meningocele, spinal cysts, spontaneous abortion and fetal death.	false
+6ad1e94afebfd37cdbec36ea3d095658ee034c78	Alpha-fetoprotein (AFP) concanavallin-A-affinity molecular variant patterns were determined in amniotic fluid samples from 10 pregnancies complicated by anencephaly (6), @PHENOTYPICFEATURE$ (1), Turner's syndrome (1), @DISEASE$ congenita (1), and fetal death (1) and 20 normal pregnancies between 14.6 and 25.5 weeks of gestation.	false
+ec1e0c149e63c7714822e0e65a3f7022f42d2741	We report on a 22-year-old woman with features of @DISEASE$ (OI), tricho-dento-osseous (TDO) syndrome and @PHENOTYPICFEATURE$.	false
+846d68507651c2d0a7832f9820afa846c2ec5be7	Molecular spectrum and differential diagnosis in patients referred with @PHENOTYPICFEATURE$ or autosomal recessive @DISEASE$.	false
+35ce22f90f6c497943258a2eb3c216dd6c9707ad	@DISEASE$-like syndrome with @PHENOTYPICFEATURE$ and extrapyramidal tract signs.	false
+1608bcf673c8f4765c1babf8564f2f29421b78ca	Deletion in a girl with @DISEASE$, tricho-dento-osseous syndrome, and @PHENOTYPICFEATURE$.	false
+85ad53ae9a21a2a24099ef41cf94b5fe2488cc7c	@DISEASE$ about dental decay, @PHENOTYPICFEATURE$ shows that sugar industry is not to be trusted.	false
+a53ba24b692f43ac27966220927acabbf9004a16	Balint's syndrome includes the clinical symptom triad of simultagnosia, ocular @PHENOTYPICFEATURE$ and @DISEASE$ ataxia.	false
+8e03d3335810179ef53eabc5bbdef2504aa0741d	Simultanagnosia, @DISEASE$ ataxia, and ocular @PHENOTYPICFEATURE$ occurred in a 74-year-old woman who received nonionic contrast media during a failed renal angioplasty.	false
+86cd3c6027478f096899a7fcb949bfcd35cf2cea	Linear sebaceous nevus syndrome (sebaceous nevus of Jadassohn) associated with @PHENOTYPICFEATURE$ and @DISEASE$ glioma: case report.	false
+35efacbac8a6ab0f3c6e85ac31b78f05c91a4726	Systemic findings were rare and included @DISEASE$ glioma in one case and Lisch @PHENOTYPICFEATURE$ nodules in three cases.	false
+f5cfb8cc8020b44dcc564772e0396901657196fc	B?lint syndrome (simultagnosia, @DISEASE$ ataxia, and ocular @PHENOTYPICFEATURE$) is typically caused by pathology affecting the parietal-occipital regions bilaterally.	false
+02d528d2528be4f6ea7d473af3087ec66e30cfd7	B?lint's syndrome consists of simultanagnosia, ocular @PHENOTYPICFEATURE$ and @DISEASE$ ataxia.	false
+7d97fdc28183bd377e7a7b1a69c28429006e0303	For example, the patients with @PHENOTYPICFEATURE$ or @DISEASE$ ataxia usually do not complain their disturbances.	false
+c90716f44e54b9a19b23bf5c0b6adfdc71349d63	The syndrome affects visual perception (causing simultanagnosia/visual disorientation) and visual control of eye and hand movement (causing ocular @PHENOTYPICFEATURE$ and @DISEASE$ ataxia).	false
+f7c5049b1f28e61dfeb2657d711edff27e4a8901	Data from neuropsychological tests showed the presence of ocular @PHENOTYPICFEATURE$, @DISEASE$ ataxia, and simultanagnosia.	false
+2dfdedfedb159bbe3320c502712cda3582fd0fc9	Two years later, she complained of right homonymous hemianopia without @DISEASE$ ataxia, ocular @PHENOTYPICFEATURE$, and simultagnosia.	false
+3c2c376232565ce114d3e63e8f2c1f2aef76ed73	Recent European guidelines for the management of atrial fibrillation recommend oral anticoagulation (OAC) in patients with @DISEASE$(2)DS(2)-VASc score (@PHENOTYPICFEATURE$, hypertension, age ?75 years, diabetes, history of previous stroke, vascular disease, age 65-74 years, and sex category [female]) ?1.	false
+652c3477ce8afac91a9a458536a9f44f36e2f4c7	Infants with the bilateral type of ChA plus cardiac defects and those with @DISEASE$ plus @PHENOTYPICFEATURE$ have a high mortality rate.	false
+1bd3e4b37bd164813a2b9af1aff7fdcaa4c79a81	This study sought to investigate whether @PHENOTYPICFEATURE$, hypertension, age???75?years, diabetes, previous stroke (CHADS2) and @DISEASE$2DS2-vascular disease, age 65-74?years, sex category (CHA2DS2-VASc) scores can predict new-onset AF and/or ischemic stroke in patients presenting with arrhythmic symptoms.	false
+9892bbe2ba9bb608035e23cf37a81294c3d4418e	The purpose of this quasi-experimental study was to examine the effect of a computerized point-of-care alert with clinical decision support on the rates of diagnosis of childhood @PHENOTYPICFEATURE$ in a multisite group practice in Massachusetts; Cambridge Health Alliance (@DISEASE$) which implemented an alert, relative to a separate group practice, Harvard Vanguard Medical Associates (HVMA), that did not.	false
+3c8810e954b372508476cfa15deed131a641024b	@DISEASE$ is caused by mutations in LMNA gene encoding lamins A and C. The disease is characterized by early onset @PHENOTYPICFEATURE$ during childhood associated with humero-peroneal muscular wasting and weakness, and by the development of a cardiac disease in adulthood.	false
+4280831b08aec00edbb6489306fd6da574651fe4	@DISEASE$ (AD-EDMD) is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and @PHENOTYPICFEATURE$ and later, by dilated cardiomyopathy and cardiac arrythmias.	false
+8b10f5cf758080de89857f6d2c64687914b22e64	Insulinoma and extreme @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+fd9e9f4c9c68c7871de786577fdc1ed4180fccac	This can be complicated by the fact that acromegaly can be associated with other tumors (for instance in @DISEASE$ disease and Carney Complex) and because chronic GH hypersecretion can stimulate tumor @PHENOTYPICFEATURE$ and perhaps tumor formation.	false
+28d668c9da5466bb8c35738f990a8cdae2f0f5a5	Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of @DISEASE$, hypertrichosis, underdeveloped genitalia, ocular, and @PHENOTYPICFEATURE$.	false
+b028e82588af9ecec46beade366e6c9dd286da25	A 20-year-old man with @DISEASE$ presented with a retroperitoneal @PHENOTYPICFEATURE$ for the past 3 months that was clinically diagnosed as malignant.	false
+381650dfbc84a518f48717f2ab4a4ab58fdc34f2	@DISEASE$ (SK) are very common benign epidermal @PHENOTYPICFEATURE$.	false
+52e49d5ecfc906bbe93c874cf91ad3745803ed02	@DISEASE$ evolution into squamous cell carcinoma: A truly modified sun-related @PHENOTYPICFEATURE$?	false
+5e686ba3e87bdd9214d01f8f991071756d4166e1	Giant genital @DISEASE$ or Buschke L?wenstein @PHENOTYPICFEATURE$?	false
+253ada8a54918699102d9d44c600a073bef49afe	@DISEASE$ are one of the most common benign epidermic @PHENOTYPICFEATURE$ in clinical practice.	false
+bc90652f60ab338f40885d70393f16753e38b40c	@DISEASE$ (SK) is a common benign epidermal @PHENOTYPICFEATURE$ with predominance in adult patients.	false
+32a8e4f534e2d3b5ec64c3cdf7d73fc0ed0c9ab4	@DISEASE$ (SK) is a benign epidermal @PHENOTYPICFEATURE$ of unknown etiology.	false
+87e512fad7ec0f0169d62520342c3fec642d0fba	Collision @PHENOTYPICFEATURE$: pigmented Bowen's disease and @DISEASE$.	false
+e70e140c3585c1467a4e4026d32fbe9768e9b391	A solitary cutaneous @PHENOTYPICFEATURE$ with distinct areas of verruca and @DISEASE$-like lesion.	false
+32a8e4f534e2d3b5ec64c3cdf7d73fc0ed0c9ab4	@DISEASE$ (SK) is a benign epidermal @PHENOTYPICFEATURE$ of unknown etiology.	false
+133f00947ed14980976783d64019a840da81f036	Benign pigmented @PHENOTYPICFEATURE$ with combined features of @DISEASE$ and compound nevus.	false
+5cf12d548e04cd4b8228e4065182f0b520bc4cff	3) In chain saw operators with muscular weakness in addition to numbness and @PHENOTYPICFEATURE$ symptoms, @DISEASE$ activity in the group with over 2,500 hours' experience was significantly higher than that in the control group.(ABSTRACT	false
+55a1190f661916cfd9e629f46fa9931c948a5362	@PHENOTYPICFEATURE$ was observed in 78% patients with @DISEASE$ and in all 46 patients with alcoholic liver cirrhosis (ALC) and 33 (56%) of 59 patients with noncirrhotic alcoholic liver disease (NCALD) (P < 0.0001).	false
+93393c7194ce429d83ff21a3d10ebeb9557e13ab	Investigations were aimed at establishing a possible correlation between enzyme activities and plasma constituents as well as between the specific activities of GR and @DISEASE$ and type of @PHENOTYPICFEATURE$.	false
+b781645143711e2d89c9008f2a821798b12ccf26	Nutritional therapy helps reverse muscle wasting, @PHENOTYPICFEATURE$, vitamin deficiencies, and trace element deficiencies associated with @DISEASE$.	false
+9e5a28d3a1e6edd09a9faa200fcfc917782ef0e2	The correlation between @DISEASE$ and OTHA was not significant in eyes with @PHENOTYPICFEATURE$.	false
+b9bcc3ee9d6677d4802a397bec2161335e044a34	@DISEASE$ (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and @PHENOTYPICFEATURE$.	false
+04cd3abc1e103ae4181e76c94a117ac057183561	This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral @DISEASE$/@PHENOTYPICFEATURE$ syndrome (BPNH/MR).	false
+2d2414d7cfd4e1710292774a0e8fe8031b21d208	Cluster headache (CH), paroxysmal hemicrania (PH), and short-lasting unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing (@DISEASE$) are primary headaches grouped together as trigeminal autonomic cephalalgias (TACs).	false
+ad29626eca2b95df00508358fcd3be648ce3b667	Case report on a patient with @DISEASE$ (short lasting, unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection, sweating, and rhinorrhoea) who was successfully treated with gabapentin.	false
+4d8f0f22f1245686f7ef61bd349b708f107c392f	In ten specimens of resected pulmonary tissue, a little known and underscribed form of @DISEASE$ called @PHENOTYPICFEATURE$-like blocked pulmonary cavity with liquid content infected with aspergilli was observed.	false
+6594a2529e210f34c68559e9fe9961e28ad801fe	The four cases describe pulmonary solid @PHENOTYPICFEATURE$ with coexisting pulmonary @DISEASE$ condition.	false
+804b9a840608ce8a3684d9704cc7875753f40527	This is a report of a patient with @DISEASE$ infection, which was thought to be a @PHENOTYPICFEATURE$ lesion during its investigation.	false
+2323780034c5c96565cb113f209edea9fbeaffc5	@DISEASE$ complicating neoplastic disease is more often present in leukemia and lymphoma than in solid @PHENOTYPICFEATURE$.(ABSTRACT	false
+5bf4bb2b587dfd0d7a476ef82f158f2c0ce17dbc	@DISEASE$ of the paranasal sinuses after invasion of the neighbouring orbit and/or the sella turcica may simulate a malignant @PHENOTYPICFEATURE$.	false
+151383d1034428cb376f9d64213a90df9a5ac81f	[Primary @DISEASE$ (Merkel @PHENOTYPICFEATURE$).	false
+8830866dd48887851d2f38b3e70b273400634541	Prevalence of MCPyV in Merkel cell carcinoma and non-@DISEASE$ @PHENOTYPICFEATURE$.	false
+7e8e9809df2b65056f14677ce4fb6d2b40261eaf	Prevalence of MCPyV in @DISEASE$ and non-MCC @PHENOTYPICFEATURE$.	false
+78d0b3aaf18e774ffbd512b7e6ecbc9711da3f64	@DISEASE$ is an aggressive @PHENOTYPICFEATURE$.	false
+12d502b4c04332da9344157a7fd78e7a709080cf	Primitive cutaneous neuroendocrine carcinoma or @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+5c5553934c5d0ecbf62ba7a00598f9bace52c5df	Primitive @DISEASE$ or Merkel cell carcinoma is a rare @PHENOTYPICFEATURE$.	false
+54f1570f8a4eb9dfe63afa07961cb1b90af3da05	Merkel cell carcinoma (@DISEASE$) is an uncommon, highly malignant, neuroendocrine skin @PHENOTYPICFEATURE$.	false
+ea537fee8d9ad64d6a765615934cf354fff37f00	@DISEASE$ (cutaneous neuroendocrine carcinoma) is an uncommon, highly malignant, neuroendocrine skin @PHENOTYPICFEATURE$.	false
+1c1222ce369b22d0d8ae7ad36df824a2fbb5096c	Primitive @DISEASE$ or Merkel cell carcinoma is a @PHENOTYPICFEATURE$ characterized by rapid evolution.	false
+d0683549f84571fa942cfd504e537b9a4af59eb1	Primitive cutaneous neuroendocrine carcinoma or @DISEASE$ is a @PHENOTYPICFEATURE$ characterized by rapid evolution.	false
+bdc2daa1561ed1024eab8864b7b4671c8da9ef1f	@DISEASE$--uncommon and aggressive cutaneous @PHENOTYPICFEATURE$.	false
+47163cc6402a9876b5ce717676eed369c654be2d	@DISEASE$ is a potentially aggressive @PHENOTYPICFEATURE$.	false
+39152b516a388730b7e8ff176b934cd3c68de8c0	@DISEASE$ (CNEC) is a rare @PHENOTYPICFEATURE$.	false
+d76f84f47f1f1dcc3efaf59732563d60ba6df38e	[@DISEASE$: a virus-induced @PHENOTYPICFEATURE$?].	false
+1670ccacc34163a5f4a7dcc57159464acbbdc3a0	Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain @PHENOTYPICFEATURE$ syndromes, the trafficking of cellular proteins in @DISEASE$, and the role of the exosome in the etiology of pontocerebellar hypoplasia.	false
+ad9db0c3b5649d4d41d3c3040740d48f372b7772	@DISEASE$ (with @PHENOTYPICFEATURE$): a contribution to the differential diagnosis of lipodystrophy syndromes.	false
+1390da853c90b291bd39c5c33b0038786464817c	@DISEASE$ in a child with @PHENOTYPICFEATURE$.	false
+c3b67438c19f9897e502bf6b5607bf52f559c261	@DISEASE$ is a rare genetic disorder characterized by short stature, hairy elbows, @PHENOTYPICFEATURE$, and developmental delay.	false
+a1a463308d3786cdea69b433287b3cc5dd664b8b	A novel de novo @PHENOTYPICFEATURE$ (p.Pro1310Glnfs*46) in KMT2A caused @DISEASE$ in a Chinese boy with postnatal growth retardation: a case report.	false
+21ea4bdc93f6f973cf23f63b5f8a330b7448b472	@DISEASE$ (WSS) is a rare genetic disorder characterized by growth retardation, @PHENOTYPICFEATURE$, hypertrichosis cubiti and neurodevelopment delay.	false
+efa6f7a871eaf3f7a382a3ce0f8c07bd8ad4f456	@DISEASE$ (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and @PHENOTYPICFEATURE$.	false
+6e529eb050bcc168c782a6bb49cdcc09ff3b1426	@PHENOTYPICFEATURE$ and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous @DISEASE$.	false
+2e92b35b92bbfd791986d42997ce9136d0137127	The @DISEASE$ is a rare, heritable dysplasia of anterior bowing of tibiae and fibulae, often with lateral bowing of femora, @PHENOTYPICFEATURE$, and mild mental retardation.	false
+d63d2bde98fa827b8060f501663a89f35e34013d	Classically, @DISEASE$ is characterized by @PHENOTYPICFEATURE$, mental retardation (in some individuals), dural calcification, and anterior bowing of the tibiae.	false
+db4fb8d811ab5e546b01b3cb406b4a347fa96527	In this respect, SNP can be used effectively for severe cases of heart failure intractable to traditional cardio-stimulatory and diuretic treatments and stemming from diverse causes: acute stage of myocardial infarction, @PHENOTYPICFEATURE$, mitral @DISEASE$, heart failure, either subacute or chronic, of various causes.	false
+fd8e32cc68eb34ef2e3fde9a2240c4005c5ae705	The presence of metabolic acidosis, hypotension, GCS and APACHE 2 score, advanced AKI stage, higher serum creatinine, and blood urea levels on diagnosis of AKI and the peak rise in their level within 48 h of diagnosis of AKI, use of mechanical ventilator, leukocytosis, and @PHENOTYPICFEATURE$ were associated with in-hospital mortality in @DISEASE$ patients.	false
+1256ed3a43cbc8d0912b593e6d9c2f2d9768a809	There was no difference in the mortality and recovery of renal function of @DISEASE$ patients submitted to different durations of PHD and sessions lasting 10?h presented higher filter clotting, @PHENOTYPICFEATURE$, and treatment discontinuation.	false
+2a87e06914da21f0821d9627b6b763b032b51fec	Respiratory complications are common in patients with @DISEASE$ and include @PHENOTYPICFEATURE$, respiratory failure requiring mechanical ventilation, prolonged duration of mechanical ventilation, and prolonged weaning from mechanical ventilation.	false
+68827a75e5c39e4820f554e603c6223157d36685	A review of this literature suggests that there are 4 causes of @PHENOTYPICFEATURE$ leading to respiratory failure in patients with @DISEASE$: (1) volume overload (cardiogenic edema), (2) left ventricular dysfunction (cardiogenic edema), (3) increased lung capillary permeability (noncardiogenic edema), and (4) acute lung injury (noncardiogenic edema with inflammation).	false
+b3f9e740c68baef2000ae011f1eda927bdac6cea	Hyperuricemia along with other electrolyte abnormalities like @PHENOTYPICFEATURE$, hypocalcemia, and hyperphosphatemia leads to acute kidney injury (@DISEASE$) due to acute uric acid nephropathy which is associated with significant morbidity.	false
+aaa080d6d827d646b1a7f7ebce036b7a1fc3b174	Although volume overload is a well-accepted mechanism of @PHENOTYPICFEATURE$ in patients with @DISEASE$, the purpose of this review was to highlight the evidence showing that noncardiogenic edema and acute lung injury also occur.	false
+d73955be9bf7161b05929a928729fecf1ed7a562	AKI may directly or indirectly produce an acute cardiac event and it can be associated to volume overload, metabolic acidosis and electrolytes disorders such as @PHENOTYPICFEATURE$ and hypocalcemia; coronary artery disease, left ventricular dysfunction and fibrosis have been also described in patients with @DISEASE$ with consequent direct negative effects on cardiac performance.	false
+26ae0e788ae5095179103aaa0bfdf3bdc16a78b8	AKI may directly or indirectly produces an acute cardiac event and it can be associated with volume overload, metabolic acidosis and electrolytes disorders such as @PHENOTYPICFEATURE$ and hypocalcemia, coronary artery disease, left ventricular dysfunction and fibrosis which has been also described in patients with @DISEASE$ with the consequence of direct negative effects on cardiac performance.	false
+ca0afb14431b276e44e76d49b7dd3faf717bfb38	A significantly higher proportion of patients with @DISEASE$ had hypoglycemia (41.9%), @PHENOTYPICFEATURE$ (32.2%), and disseminated intravascular coagulation (DIC) (29.0%) compared to those without AKI (18.4%, 4.8%, and 3.2%, respectively).	false
+becc57fb2dbbbe8a6ef82836ecb3bda059072cb4	Recent randomized controlled trials have indicated that a watchful waiting strategy (in the absence of life-threatening conditions such as severe hyperkalemia or @PHENOTYPICFEATURE$) during severe @DISEASE$ allowed many patients to escape RRT and did not seem to adversely affect survival compared with a strategy of immediate RRT.	false
+b45bc6fe7219c72a573c48df1d7b21e126d0fe3c	We describe two patients with pruritic, mainly urticarial or @DISEASE$ lesions associated with peripheral blood @PHENOTYPICFEATURE$.	false
+e2820e99e9802c31592dbe0c0a5d4e18d29d861d	@PHENOTYPICFEATURE$ and rd1 mutation in NC/Tnd mice-a human @DISEASE$ model.	false
+fc0af0264a4110486f9660b3abd156c9c133f984	The therapeutic effect of transfer factor (TF) from healthy donors was investigated in two children with extensive intractable @DISEASE$, @PHENOTYPICFEATURE$, hyperimmunoglobulinaemia E, defective neutrophil chemotaxis and depressed cell-mediated immunity.	false
+e74072c0c25731e58b45599c432a8b8610263d6f	Canine CAFRs presented mainly as @PHENOTYPICFEATURE$, otitis externa and @DISEASE$.	false
+0ec27aac946e4bbfd27a7cffb0ff6eadbffa98fc	@PHENOTYPICFEATURE$ variables were significantly higher in both patient groups with @DISEASE$ than in normal controls.	false
+2bc780ac09c8510e0994559d57fc62d0fb2a59bb	The most frequent radiation-induced skin cancers are basal cell carcinomas (BCCs), and in many cases, they may occur subsequent to tinea capitis, hypertrophic @PHENOTYPICFEATURE$, acne vulgaris, @DISEASE$, and hyperthyroidosis.	false
+2c4d19f831b36d434f9e1d0ea775b5c82e232dff	@PHENOTYPICFEATURE$ in the NC/Nga mouse: an @DISEASE$ model.	false
+1ea2382ebdf8fb40a14e3b3d9557d3a7c0558912	@DISEASE$ disorders are usually associated with mild @PHENOTYPICFEATURE$, whereas values >20.000 cell/?l are highly suggestive for myeloproliferative disorders.	false
+c923f78b1d5734151bf23a0bfcd695cfe3ae48de	3. @DISEASE$ arteritis, marked glomerular nephritis, @PHENOTYPICFEATURE$, and Aschoff body-like structures were seen only after hypersensitivity had developed.	false
+455a24ab9a18674f9739c141e26954fcec92432b	@DISEASE$ (AD) is associated with skin @PHENOTYPICFEATURE$.	false
+c7fdebbd784030156676f5aa74ac5223387099a2	Two of the 4 patients (50%) with extensive pagetoid @PHENOTYPICFEATURE$ had at least 1 nondiagnostic biopsy, with an average of 5.5 (@DISEASE$.5) nondiagnostic biopsies per patient (57% of biopsies).	false
+29be20b943b38c5bd889135579f382eafe2bb981	The mean @PHENOTYPICFEATURE$ size was 6.2?mm (@DISEASE$.3).	false
+832cf01ec2048f5ab33b752a409ff38b21a2b152	Thirty-eight percent of @PHENOTYPICFEATURE$ demonstrated growth; an average of 6.5 mm (@DISEASE$.8) at a mean rate of 3.1 mm per year.	false
+e51aa94145886b1ac026570547a79c59d695fc33	In the setting of liver cirrhosis, decreased oxygen consumption at peak exercise may result from a combination of multiple extra-hepatic complications, including deconditioning, malnutrition-associated @PHENOTYPICFEATURE$, anaemia, @DISEASE$, and hepato-pulmonary syndrome for instance.	false
+b8bae16c44783445e52d96ef51ce27a837960ab8	Infections and a changed cardiac function known as @DISEASE$ may be involved in further aggravation of other complications such as @PHENOTYPICFEATURE$ precipitating the hepatorenal syndrome.	false
+b8bae16c44783445e52d96ef51ce27a837960ab8	Infections and a changed cardiac function known as @DISEASE$ may be involved in further aggravation of other complications such as @PHENOTYPICFEATURE$ precipitating the hepatorenal syndrome.	false
+35f7a7317bd24f7933ef1839f68c1592c9143efc	Several mechanisms seem to be involved in the pathogenesis of @DISEASE$, including impaired function of beta-receptors, altered transmembrane currents, and overproduction of cardiodepressant factors, like nitric oxide, @PHENOTYPICFEATURE$ necrosis factor ?, and endogenous cannabinoids.	false
+a25b8304353bd74fac40d498a8fe4a6f05c8364d	The simultaneous occurrence of congenital @PHENOTYPICFEATURE$, @DISEASE$ phenotype, dysmorphic features, and growth delay in this patient points to a new contiguous gene syndrome.	false
+4067d75a9280d1fe9120ef5055f3210c080d5fee	Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's disease, drug-resistant tumors, Dubin-Johnson syndrome, Byler's disease, progressive familiar intrahepatic cholestasis, @DISEASE$, persistent hyperinsulimenic @PHENOTYPICFEATURE$ of infancy, and others.	false
+ab50224b90bba6b0edb23814907d0003d0e288f9	Diagnoses included @DISEASE$ (6), spondyloepiphyseal dysplasia (9), @PHENOTYPICFEATURE$ (5), metatropic dysplasia (3), and Kniest syndrome (1).	false
+24d833548681c6cfd05ebae646cdf241fd6831ab	Morquio Syndrome (@DISEASE$ A) is a rare inherited connective tissue disorder characterized by @PHENOTYPICFEATURE$, restrictive pulmonary disease and normal intelligence.	false
+bee48da1b34affee4f60176485df6301104018d3	@DISEASE$ (MPS IVA) leads to @PHENOTYPICFEATURE$ through excessive storage of chondroitin-6-sulfate and keratan sulfate (KS).	false
+2c351ac1ced87ce9fc62ba19ca616cc793c38703	Patients with @DISEASE$ (MPS IVA) can present with systemic @PHENOTYPICFEATURE$, leading to a need for multiple orthopedic surgical procedures, and often become wheelchair bound in their teenage years.	false
+16f9952f9a6b089662170dc8ad5095e721c20cfb	Furthermore, patients with @DISEASE$ frequently cannot perform standard pulmonary function tests as a result of their distinctive @PHENOTYPICFEATURE$ and chest deformity, thus making diagnosis of incipient pulmonary disease difficult.	false
+235b9bb4d41effbbfe71c0c3edf05059651c0c4e	@DISEASE$, or mucopolysaccharidosis type IV, is a rare enzyme deficiency disorder and results in @PHENOTYPICFEATURE$.	false
+1645ca827a90950c33e194b8bf2aabb7e7430f04	Morquio syndrome, or @DISEASE$, is a rare enzyme deficiency disorder and results in @PHENOTYPICFEATURE$.	false
+744a16facf46cc51a1f178029c5de356eb6c9efe	In conclusion, distinction between this type of @PHENOTYPICFEATURE$ and @DISEASE$ (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling.	false
+74a5975bec88e24d1f152eef64bc62429461c2e9	Dyggve-Melchior-Clausen syndrome is a rare variety of @PHENOTYPICFEATURE$ which often resembles @DISEASE$.	false
+3b4bf636f70d3d8b603fdb60d316f4207b40e39f	Main symptom of @DISEASE$ (MPS IVa) is progressive systemic @PHENOTYPICFEATURE$.	false
+6bac3859ba36f1f30fc401d23e868890e1b9da74	@DISEASE$ (MPS IVA), a progressive lysosomal storage disease, causes @PHENOTYPICFEATURE$ through excessive storage of keratan sulfate (KS).	false
+70eaf3661af3dd72d369cdf75f48ae15a988548d	Attitudes toward the use of alcohol and other drugs were evaluated in comparison to @DISEASE$, @PHENOTYPICFEATURE$, depression, schizophrenia, HIV/AIDS, and tobacco use.	false
+b3dad14fd01766625a712134f4af41f8eaa27c91	Marshallese communities suffer from a disproportionate incidence of chronic diseases, including @PHENOTYPICFEATURE$, cardiovascular disease, diabetes, and infectious diseases, such as @DISEASE$ (leprosy), tuberculosis, and types of hepatitis.	false
+f7ed4efaaf7bba48094b0b8b7d0c0b9287dbdc98	Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, @DISEASE$, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal @PHENOTYPICFEATURE$, in addition to other rare entities.	false
+cc49ea22182446ca6a3d3238819c42cd9503f6a6	@DISEASE$: a cause of extreme macrocephaly and @PHENOTYPICFEATURE$.	false
+918920bd887175a414f9d46e2e6f0230b15a4060	Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b2c08dbb2c1beececf38ad7768306b89555086ad	An 11-year-old male diagnosed with @PHENOTYPICFEATURE$ and @DISEASE$ received bilateral injections of botulinum toxin type-A (Botox Allergan Pharmaceuticals, Irvine CA) in the masseter muscle.	false
+80cd4c76008df50e053c93a44e39cb23e67ed04c	PHTS incorporates a number of historical clinical presentations including @DISEASE$, Cowden syndrome, and a macrocephaly-@PHENOTYPICFEATURE$/developmental delay syndrome.	false
+52445ce282700889870fdab5d179159a87e40084	Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with several mental disorders associated with learning disability (e.g., Alzheimer's disease, Angelman syndrome, @PHENOTYPICFEATURE$, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and @DISEASE$, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior.	false
+8eaa749c7736e652e3c938bb056f1033c1a29c9e	@DISEASE$ with reactive nodular lymphoid hyperplasia and @PHENOTYPICFEATURE$ and a PTEN mutation.	false
+af3ff0ab44ccaef2711631301ca10ae85995c646	@PHENOTYPICFEATURE$ was initially misattributed to @DISEASE$ and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome.	false
+6622b191b97c8cdd18d4e785c2c5935473bc87f5	A total of 30 patients presented with associated malformations: 9 with CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth()and mental development, genital hypoplasia, and @PHENOTYPICFEATURE$), 1 with @DISEASE$ with Kabuki syndrome, 1 with facial cleft, 1 with Down syndrome, 12 with nonsyndromic malformations, and 2 with 22q11 microdeletion.	false
+4402623baf5ffb324db83f11c91600a6d616803e	The genetic possibilities which cannot be excluded include a previously unrecognized variant mutation at the vWd locus, a dominant mutation at the @DISEASE$ locus on the X chromosome, and dominant @PHENOTYPICFEATURE$ at a hypothetical fourth locus involved in factor VIII synthesis and control.	false
+1d048cb3da7e614546ff12667db7235128b2c0e1	Follow-up and further evaluation revealed @DISEASE$ as a result of a de novo @PHENOTYPICFEATURE$.	false
+83a3f0a83f9734a217d7c1310e3bd9ad2d215a53	[Identification of a de novo @PHENOTYPICFEATURE$ in a factor FVIII:C gene in a family requesting prenatal diagnosis of @DISEASE$].	false
+31639e860543c12d9b5b2244345a75f5be166cb2	A 27-year-old man with @DISEASE$ was admitted on October 17, 2000, with @PHENOTYPICFEATURE$ and dyspnea.	false
+c5e74e7388179391c2c1158cfec3dbe0b9c1d232	Because a considerable percentage of all cases is thought to result from de novo @PHENOTYPICFEATURE$, it is likely that many different molecular lesions lead to @DISEASE$. In order to understand the molecular basis of this disorder, we examined 160 patients with different clinical features using factor VIII gene probes.	false
+6c4cdd02be09b9c27a6edb9e3d576d7c275e4e30	Expression of von Willebrand factor "Normandy": an autosomal @PHENOTYPICFEATURE$ that mimics @DISEASE$.	false
+4419837efdbaa1c68a4387b6cb5a444c39213440	An 18-month-old male infant with moderate @DISEASE$ was admitted with @PHENOTYPICFEATURE$, vomiting, and hypersomnia.	false
+855f589581701f45b7bf4450857287561634046e	@PHENOTYPICFEATURE$ with Mycobacterium @DISEASE$: how has this altered with the changing epidemiology of tuberculosis?	false
+436fae1af4a0aad9a04267199f200cc5de00ee88	Other important causes of death in order of prevalence were cerebrovascular accident (10.5%), acquired immune deficiency syndrome and @DISEASE$ either alone or as co-infection (10.3%), heart failure (8.8%), chronic liver disease (7.0%), septicemia (6.5%), respiratory failure (5.3%), diabetes mellitus (4.6%), @PHENOTYPICFEATURE$ (2.9%), and primary liver cell carcinoma (2.7%).	false
+9fcc4564f33c23b50ff40fdaf1c631395e9b9cb4	Keratotic papules and nodules and @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and AIDS-related complex.	false
+449744c6d1e618100d02e3870f77bf407466d1e2	[Successful isoniazid therapy of two patients with a severe form of lupus @DISEASE$ complicated by elephantiasic @PHENOTYPICFEATURE$].	false
+dc1a8743acb6ffe87eef1b90b5e0268269f6e591	Others had locally advanced prostate cancer (n=1), locally advanced cervical cancer (n=3), ovarian cancer (n=1) and genitourinary @DISEASE$ with small capacity bladder along with a large @PHENOTYPICFEATURE$ (n=1).	false
+a725a8cbd431a9069009ccfdec5c4f81ea540eaf	The clinical and cytomorphological features of lymphocutaneous nocardiosis closely mimic the most common infections in India such as @DISEASE$ and mycetoma (very common @PHENOTYPICFEATURE$ with discharging sinus).	false
+5df5d7cb3e23536bd6dfd538576b43006a5f2413	Endobronchial @DISEASE$ (EBTB) is a sequelae of pulmonary tuberculosis (TB) that extends to the endobronchial or endotracheal wall causing inflammation, @PHENOTYPICFEATURE$, ulceration, granulation or fibrosis of mucosa and submucosa.	false
+54a382ba3a2627aa0f8290e279db322a9e6d56cc	In particular signs of malnutrition, @PHENOTYPICFEATURE$ and @DISEASE$ were more common in the Haitian population.	false
+b995d4dcae896284eba037115aee560e1d038f2e	The errors admitted are analyzed, the significance of the atypical tuberculosis forms being stressed upon, especially miliary tuberculosis, pulmonary uremic @PHENOTYPICFEATURE$, resembling disseminated pulmonary tuberculosis as well as of reduced activity in searching and diagnosis of @DISEASE$.	false
+2abefc013b00f991da155da4c169072a7ee54db6	Three stages of evolution of the process: Stage 1 is the breakdown of defense and adaptive mechanisms: disorganization of connective tissue and alveolar parenchyma; enhanced permeability of blood and lymphatic microvascular walls with developed interstitial and intraalveolar @PHENOTYPICFEATURE$, plasma and fibrin exudation, fibrinoid swelling of collagenous fibers, and their lysis; occurrence of lung parenchymal microinfarcts and infarction-pneumonia; type 2 alveolocytic dysfunction with surfactant destruction; Stage 2 is the breakdown of local immunity; exudative and alterative tuberculous inflammation with involvement of immunocompetent organs; suppressed T-cellular immunity, a shift of a T helper/T suppressor ratio to the latter, lymphopenia; impaired intercellular interactions, cellular apoptosis in blood and inflammation areas, and suppressed granulomatous reaction; inhibited L transformation of Mycobacteria @DISEASE$, intensive MBT multiplication in the foci of tuberculous inflammation, particularly those which are resistant to many antibiotic drugs, a larger number of associations of the nonspecific microflora and fungi.	false
+d8564ce32015c9567851475e0f52eda5270b5c5d	DICER1 mutations in a patient with an ovarian Sertoli-Leydig @PHENOTYPICFEATURE$,  well-differentiated fetal adenocarcinoma of the lung, and @DISEASE$.	false
+066fd7815cb5663fd630d5d60f5df58a2f034f01	DICER1 syndrome, a recently described tumor-predisposition syndrome, often involves multiple organs and is characterized by pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig @PHENOTYPICFEATURE$, @DISEASE$, etc. Germline DICER1 mutations have been identified in individuals with a variety of malignant conditions.	false
+5c15fa2cff34a1c433f6a16f34420c6afa0f7783	DICER1 syndrome, a recently described @PHENOTYPICFEATURE$-predisposition syndrome, often involves multiple organs and is characterized by pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig tumors, @DISEASE$, etc. Germline DICER1 mutations have been identified in individuals with a variety of malignant conditions.	false
+f9bdd7927895fa6244826a4eeb93bb433348706a	We describe a 38-year-old man with @DISEASE$ who had an @PHENOTYPICFEATURE$ vesicular eruption of the left eye develop that resembled cellulitis.	false
+79ad212b229e4c94e9d2fec23af53639afa8f554	These changes include progressive decline in glomerular filtration rate, enhanced risk and severity of mucositis and @PHENOTYPICFEATURE$, and increased incidence of refractory forms of @DISEASE$.	false
+390b93c4f490ff5747feec8b62590013238ba0e4	@PHENOTYPICFEATURE$ after high-dose cytosine arabinoside, daunorubicin, and asparaginase consolidation for @DISEASE$.	false
+6897782bc4ecf43c7de4febfbbd12144863f966d	@PHENOTYPICFEATURE$ caused by high-dose cytosine arabinoside treatment in a patient with @DISEASE$.	false
+f4fd2ab5942e89451becd3540b1505714f0e2ff2	Blood and/or bone marrow cells from patients with hematological malignancies, chronic lymphocytic leukemia (CLL), chronic myeloid leukemia in blastic phase, acute lymphoid leukemia, @DISEASE$, prolymphocytic leukemia, multiple myeloma and @PHENOTYPICFEATURE$, were incubated with Lonidamine at different concentrations (50, 100 and 160 micrograms/ml) for 1-2 h.	false
+fadd53b3e7b29f509e4893f2033e88fa81ac8001	A 23-year-old man with @DISEASE$ (AML) (M2) who was pretreated with chemotherapy for autologous bone marrow transplantation developed a @PHENOTYPICFEATURE$ on the left groin.	false
+d7bcac8fbabaaa31ae9acc0c18ea90cdfbbdd01d	@PHENOTYPICFEATURE$ in a patient with @DISEASE$ and neurological deterioration--quiz case.	false
+6a06144b32ed6d054a47b89898fd07f42bbd9c2f	The first patient was a 9-year-old girl, who developed @PHENOTYPICFEATURE$ with a headache during the medical treatment for @DISEASE$.	false
+188b2579fda2655234f04be072dacd91fd8bc581	Sweet syndrome (SS), a paraneoplastic syndrome characterized by fever, neutrophilia, multiple @PHENOTYPICFEATURE$ painful plaques, and a dense dermal neutrophilic infiltration, has a known association with hematologic malignancies such as @DISEASE$.	false
+f3434e8a65d8e45d3945b8f961c6c5b9463f745a	A 73-year-old female patient with @DISEASE$ (AML) had Mycobacterium abscessus bacteremia with manifestations of multiple @PHENOTYPICFEATURE$, pneumonia, and mediastinal lymphadenopathy 4 months after the implantation of a peripherally inserted central catheter (PICC) for the delivery of chemotherapy.	false
+bb6e34378cd9c8f9981d6e9689dec37304d83e28	@DISEASE$, also called Lymphedema @PHENOTYPICFEATURE$ Syndrome (LSC 1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.	false
+686c602aa8e393c9db737ea4e4455e0a21bb90e5	We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (@DISEASE$) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual disability speech delay, microcephaly, and @PHENOTYPICFEATURE$.	false
+b0aa1b1a923abdbfdd1ce89bb78096a5f44d8ab6	The recently proposed adaptor protein 4 (@DISEASE$) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and @PHENOTYPICFEATURE$.	false
+631c0391c49c3fe2fd5ccdbb4d43747466c7bd7c	@PHENOTYPICFEATURE$ were more common in boys with Apert and @DISEASE$.	false
+a4025819af71692295852cb62df1cce4627c310d	@DISEASE$ is characterized by coronal suture synostosis, midface hypoplasia, subtle @PHENOTYPICFEATURE$, and hearing loss.	false
+5165ea76717780654c721c2fae6e5ef19b5d9cfd	We report here on a 24-year-old woman with this syndrome who presented with @DISEASE$, @PHENOTYPICFEATURE$, arrhythmia and an unusual infratentorial brain involvement.	false
+f7d4165e816f44ab01c964aae4722bf2c8174b58	Congenital @DISEASE$ is expressed in facial asymmetry resulting from unilateral @PHENOTYPICFEATURE$.	false
+1c299227d0d34012b22eca92af8303e0fd96a3f4	Length of survival in patients with @DISEASE$ is associated with the spatial extent of @PHENOTYPICFEATURE$.	false
+b43c163aadbf7e7a594d80737b54e366e3984828	No association between VAPB mutations and familial or @PHENOTYPICFEATURE$ @DISEASE$ in Sweden, Portugal and Iceland.	false
+23b8f8d27506fab343383d0fc5d443f6072621b3	@PHENOTYPICFEATURE$ and development of @DISEASE$ following electrical injury.	false
+78562dbe1898c132c40e8af0816ce54768a5fd76	Development of effective therapy for @PHENOTYPICFEATURE$ @DISEASE$.	false
+12b20e15b4e86131d57fdcd375b38a6965806e3f	To determine the relationship of @PHENOTYPICFEATURE$ with survival in @DISEASE$ (ALS).	false
+6005bea4c4f1a87a887557bc7e2dcd59352fef37	To determine the relationship of @PHENOTYPICFEATURE$ with survival in amyotrophic lateral sclerosis (@DISEASE$).	false
+f9296e019141fd2904dc6b2f0604da8ac3085814	Detection of @PHENOTYPICFEATURE$ in @DISEASE$ using high-field magnetic resonance spectroscopy.	false
+7fcdd8a3302d9eb1cb3668f08a49fa8c30458adc	We investigated @PHENOTYPICFEATURE$ and neurochemistry in patients with @DISEASE$ (ALS) using magnetic resonance spectroscopy (MRS).	false
+2028aa40020b69135940463782fd20e06d1452a2	We investigated @PHENOTYPICFEATURE$ and neurochemistry in patients with amyotrophic lateral sclerosis (@DISEASE$) using magnetic resonance spectroscopy (MRS).	false
+3a728003be0d6dea7ff4db95734601532b44eddb	The 14 patients with VAPB mutations all carried a diagnosis of @PHENOTYPICFEATURE$ @DISEASE$.	false
+43810f1ad2c0534d0f52f0f7593346b095ed3959	MEF2D and MEF2C pathways disruption in @PHENOTYPICFEATURE$ and familial @DISEASE$ patients.	false
+be989a3d81a507d6e88f88897325e888e94ec7c9	@DISEASE$ is a progressive neuromuscular disease characterized by both lower motor neuron and @PHENOTYPICFEATURE$.	false
+4dcd40eee2686405233424ad75d836774970b8c7	In Part 1, we will discuss @PHENOTYPICFEATURE$, malignancy, rebound phenomenon, eczema, atopic dermatitis, lichenoid reactions, granulomatous disease, pruritus, acne, and @DISEASE$.	false
+bcdcf0dab4582de9ad82a74be4f37ce03fed4c57	The neuropathological lesions of SBT recipients included: (a) vascular lesions: global brain ischemia, infarcts, intracranial hemorrhage and @PHENOTYPICFEATURE$ (7 children/2 adults; 69%); (b) cerebral atrophy (6 children; 46%); (c) Alzheimer type II gliosis (5 children/4 adults; 69%); (d) infection (3 patients; 23%) due to cytomegalovirus (1 child), Aspergillus fumigatus (1 adult) and @DISEASE$ (PML)-like (1 adult); (e) Epstein-Barr virus-related cerebral post-transplant lymphoproliferative disorder (2 children; 15%); and (f) central pontine and extrapontine myelinolysis (1 child; 7.5%).	false
+b4b560af1d09b35a0075f9782d0dd8a003d82980	The neuropathological lesions of SBT recipients included: (a) vascular lesions: global brain ischemia, infarcts, intracranial hemorrhage and @PHENOTYPICFEATURE$ (7 children/2 adults; 69%); (b) cerebral atrophy (6 children; 46%); (c) Alzheimer type II gliosis (5 children/4 adults; 69%); (d) infection (3 patients; 23%) due to cytomegalovirus (1 child), Aspergillus fumigatus (1 adult) and progressive multifocal leukoencephalopathy (@DISEASE$)-like (1 adult); (e) Epstein-Barr virus-related cerebral post-transplant lymphoproliferative disorder (2 children; 15%); and (f) central pontine and extrapontine myelinolysis (1 child; 7.5%).	false
+2b9e66fccc0ee3bb3f2f6240155d11af3fc83d85	Approved monoclonal antibodies and derived therapeutics have been associated with adverse effects such as immunogenicity, cytokine release syndrome, @DISEASE$, intravascular haemolysis, @PHENOTYPICFEATURE$, abnormal liver function, gastrointestinal perforation, bronchospasm, intraocular inflammation, urticaria, nephritis, neuropathy, birth defects, fever and cough to name a few.	false
+32a4558f7ce3871527c3626d5120ca22943d7426	Severe extrahematologic toxicity (National Cancer Institute Grade 3-4) occurred in two patients, consisting of @PHENOTYPICFEATURE$ in one patient and @DISEASE$ in the other.	false
+c9566116db5bf1e68db9d435c9b941ce434421a4	Differential diagnosis of recurrent @DISEASE$-like lesions in the cerebral white matter and @PHENOTYPICFEATURE$ should include the possibility of CMTX disease.	false
+040dbdf8a824b68e47659ef347fa75d6c83b0c73	Mild PRS-I deficiency (@DISEASE$) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive @PHENOTYPICFEATURE$, and central nervous system impairment.	false
+df946496199e7cbd6388402e5b49de647f3cd849	Proliferative processes in retinal blood vessels, vascular permeability and induced @PHENOTYPICFEATURE$ which follows, frequently cause blindness in the diseases of the macula: AMD (@DISEASE$) diabetes and retinal vascular occlusions.	false
+22c717a2dd9259b13f93b94481f6186a0f010064	Proliferative processes in retinal blood vessels, vascular permeability and induced @PHENOTYPICFEATURE$ which follows, frequently cause blindness in the diseases of the macula: @DISEASE$ (Age-related Macular Degeneration) diabetes and retinal vascular occlusions.	false
+6460401226cdc138c30984217940cda3b563f349	Eyes with PCV are characterized by a higher incidence of SRDs, greater SRD height, and less intraretinal @PHENOTYPICFEATURE$ than eyes with exudative @DISEASE$.	false
+8e6dd1bf9c3d838efb7785419b8bef77efee8a46	The authors present the case of a patient with @DISEASE$ who developed @PHENOTYPICFEATURE$ within a thickened ERM in both eyes after cataract surgery.	false
+ded32206e8b35595a10f5afd0352386c6f035371	Metal-on-metal (MoM) @PHENOTYPICFEATURE$ total hip arthroplasties (THAs) were discontinued early after their introduction because of the high number of failures due to adverse reaction to metal debris (@DISEASE$).	false
+8e0e1ffeb4c9b2e22bb9cff029a9e357e5bac329	Amiodarone (@DISEASE$) is classically used for the treatment of atrial fibrillation and is the drug of choice for patients with @PHENOTYPICFEATURE$.	false
+9bd4e06284963c8efb73a0022734bbfb8ed58e31	A retrospective, noncomparative case series was conducted in patients with foveal @PHENOTYPICFEATURE$ and/or subfoveal fluid associated with NV due to @DISEASE$ during a 3-month period.	false
+5c175c3eb35e7d41220daff1fb47138dc34324b7	Amiodarone (@DISEASE$) is a powerful anti-arrhythmic drug used for the treatment of a wide variety of @PHENOTYPICFEATURE$ and its most striking feature is its high iodine content.	false
+7fd1a3f22adc7148568ade459d5754c9dd1f7b46	@DISEASE$ and sun exposure, iris colour, and skin @PHENOTYPICFEATURE$.	false
+75efe7850892657de7b5b57ca5544fd191fc623d	Apical serum decreases RPE permeability, which might be a defense mechanism that would retard the spread of @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+256de7d2185f8eaadfe8560646df6d3c2cb66266	CNV lesions in pathological myopia were associated with considerably less retinal @PHENOTYPICFEATURE$, SRF and SRT compared with CNV associated with @DISEASE$.	false
+feaae44dfe427d88971d5467999cb3b2f8e97784	Alterations of USH2A, encoding usherin, are responsible for more than 70% of cases of @DISEASE$ (USH2), a recessive disorder that combines moderate to severe hearing loss and @PHENOTYPICFEATURE$.	false
+e4d0e1ff4c70fe6b7e35c4604548dde5c97ccc6b	@DISEASE$ (USH3) is characterized by progressive loss of hearing and vision, and varying degrees of @PHENOTYPICFEATURE$.	false
+88a0be24a16ca4020ae4f129169c71637e39cba7	@DISEASE$ is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of @PHENOTYPICFEATURE$ and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and Usher syndrome type II.	false
+123975746ff0cb7f36e993b1d7f057d179ae3bc9	Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of @PHENOTYPICFEATURE$ and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form from Usher syndrome type I and @DISEASE$.	false
+4d5375f93c83ba75171a4f79cafa46c692065ac6	@DISEASE$ is an autosomal recessive disorder characterized by progressive sensorineural hearing loss, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+8f0df7f34ba42f1bf771dbc10039d99c9b6f8fb9	The gene encoding human myosin VIIA is responsible for @DISEASE$ (USH1B), a disease which associates profound congenital sensorineural deafness, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+c989752aa61abda36c22dc6c6a7beb29cc793ca5	@DISEASE$ (BC) may involve the ureteral orifice, and the resection of the orifice has oncological and functional consequences such as development of upper tract urothelial carcinoma (UTUC), vesicoureteral reflux or @PHENOTYPICFEATURE$.	false
+4bccf39eca30d4b0222bda9879c721141d725514	Additionally, patients with @PHENOTYPICFEATURE$ and @DISEASE$ often present with advanced stage and have poor survival.	false
+fd081ff0b2234cd7c9dd18979d90060e69f2f089	The primary disease that prompted diversion included @DISEASE$ (84%), @PHENOTYPICFEATURE$ (12%), and interstitial cystitis (3%).	false
+b64ae0cccdc0e9324cf52283b295fbb2391432fc	Non-invasive @DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+06dd0aa9b27b3007d1b424f5ba19c0adbb5566b4	We describe a case of an HTLV-1 carrier who developed @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ffaf91ed30b77217f8867b813e6e8fa17854aeca	In patients with nonmuscle invasive @DISEASE$ and involvement of the intramural portion of the distal ureter a stage T1 @PHENOTYPICFEATURE$ and a tumor size 1.5?cm or greater are independent predictive factors for distal ureteral stenosis.	false
+70b5327f2912e04eecc03fab1ad9d5cf66a811ef	In patients with nonmuscle invasive @DISEASE$ and involvement of the intramural portion of the distal ureter a stage T1 tumor and a @PHENOTYPICFEATURE$ size 1.5?cm or greater are independent predictive factors for distal ureteral stenosis.	false
+9bcbdf97329bf9109652c93db1f4e162ab63ae16	In patients with nonmuscle invasive @DISEASE$ and involvement of the intramural portion of the distal ureter a stage T1 tumor and a tumor size 1.5?cm or greater are independent predictive factors for distal @PHENOTYPICFEATURE$.	false
+e97cd97affd201acd8effc67ecede8266cbdf563	Urinary diversion is the final therapeutic approach in several bladder pathologies including selected cases of @DISEASE$, @PHENOTYPICFEATURE$, and painful bladder syndrome.	false
+2d7c20e337c42a494ae81fc8239724c962d7f5d0	Eosinophilic fasciitis with severe @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and B-cell lymphoma.	false
+a543066b6a5e5ed7ee8f5009d5e7c49c4505d055	One of the patients had a background of T1G3 @DISEASE$ and suffered @PHENOTYPICFEATURE$.	false
+e7db36819e6a4de5f83f8b1c69773263b76b40a2	We excluded patients with benign prostatic hyperplasia, vesicourethral anastomotic stenosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+680deb2ac29875c800e1d2c25ee29b3e8438941d	The oculome design covers 429 known eye disease genes; these are subdivided into 5 overlapping virtual subpanels for anterior segment developmental anomalies including glaucoma (ASDA; 59 genes), @DISEASE$-anophthalmia-coloboma (MAC; 86 genes), congenital cataracts and lens-associated conditions (70 genes), retinal dystrophies (RET; 235 genes), and @PHENOTYPICFEATURE$ (15 genes), as well as additional genes implicated in optic atrophy and complex strabismus (10 genes).	false
+17f85e4d73cb2a13b44b72aa3254527a206018e8	Direct regulation of the @DISEASE$ promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated @PHENOTYPICFEATURE$ and deafness to WS2.	false
+804d2f7878f04f88612cb9c1355e02c35caff3a8	Complete deficiency of @DISEASE$ transcription factor (MITF) in Mitfmi-vga9/mi-vga9 mice is associated with microphthalmia, retinal dysplasia, and @PHENOTYPICFEATURE$.	false
+d690ddddccd68287bf36958fed9db48ba6fd4d31	Complete deficiency of microphthalmia transcription factor (MITF) in Mitfmi-vga9/mi-vga9 mice is associated with @DISEASE$, retinal dysplasia, and @PHENOTYPICFEATURE$.	false
+af893f721e2079ab2ad34ff5adfad0daf35a7b1a	The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), @PHENOTYPICFEATURE$ (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), @DISEASE$ (n = 2), and constricted ears (n = 1).	false
+e1a77146740d4e2cbfd06b0a7258f647793ea661	We describe a boy with @DISEASE$"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, @PHENOTYPICFEATURE$ and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet.	false
+348ff4e1e0d86b0d1c0cd989d43005e3c2f9d7ad	The clinical, the CT scan and the operative findings of a case of @DISEASE$ with spastic paraplegia, mental retardation, blindness, and cleft lip and @PHENOTYPICFEATURE$ are discussed.	false
+2af99828a9d9ec28ce97f249a407e447de449c8f	We present an autosomal-recessive @DISEASE$ (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete @PHENOTYPICFEATURE$, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families.	false
+52248147a887df5a70998be1e8138c52b1fc658f	The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and @PHENOTYPICFEATURE$, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with @DISEASE$, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH.	false
+9652f66e144656f7f3e4d4416e3b495cc3861cdb	Our findings show that in addition to point mutations, a complete deletion of the PHF8 gene is associated with the X-linked mental retardation @DISEASE$ (OMIM 300263) and further suggest that the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of @PHENOTYPICFEATURE$.	false
+209e5b91ee708c8ed93c1ea2ae21520a87166140	@DISEASE$ is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo @PHENOTYPICFEATURE$ in CDC42, i.e., p.Tyr64Cys.	false
+7ea4d374ce3500c55a2871536365afa39df54990	The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous @PHENOTYPICFEATURE$, i.e., p.Tyr64Cys in CDC42, signifies a clinically recognizable novel syndrome that has been eponymized as "@DISEASE$" (OMIM #616737).	false
+68603c2184415873c5fb208e3a7e6acde819741a	In his mother's cousin who bears the identical unbalanced translocation, mild mental retardation, patent ductus arteriosus, @DISEASE$, recurrent infections, unilateral kidney hypoplasia, @PHENOTYPICFEATURE$, and hearing deficiencies were reported.	false
+a6051799d65fdf0f80798f8c8481b02ae8204161	Laboratory test data revealed @DISEASE$, hypoalbuminemia, leukocytosis, and mild @PHENOTYPICFEATURE$.	false
+f126822cfb285c3ee6d359811398e8b13f14b278	TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, @PHENOTYPICFEATURE$, and pancytopenia or @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+bd8675d6ed786a74972e729d6b23dbee4c40c5bc	@PHENOTYPICFEATURE$ and @DISEASE$ caused by M?n?trier's disease.	false
+dd97aedec866fddb0f0f29e41417b1c60bb29441	The problem of @DISEASE$ in patients with myeloma or @PHENOTYPICFEATURE$, and its treatment with intravenous immunoglobulins, is also discussed.	false
+015909345facb3aa981a070e2a80c2e58a3c3d26	Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+edd78b03b13f2f9729ef4d2420a913cee5325743	Key clinical features comprised @DISEASE$, short stature with microcephaly, @PHENOTYPICFEATURE$, and inner retinal dysfunction without sideroblastic anemia or developmental delay.	false
+aec244622a3321208be25dd7004f04968baa4ba7	About eight months after the operation, she was readmitted because of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f059b36a0d57c8183244632764d0195152f5b5c9	Patients with PIL develop hypoalbuminemia, hypocalcemia, @PHENOTYPICFEATURE$ and @DISEASE$, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea.	false
+ace3efd56766dcfc1c1e144596935dd357e2e25f	The explanatory variables for MMP-12 in saliva were age, smoking, presence of any @PHENOTYPICFEATURE$, and percentage of @DISEASE$?mm.	false
+fca71fced9287193ea68b9770afb37e9a1a1001f	@DISEASE$ (HLHS) is a common @PHENOTYPICFEATURE$ that is universally fatal without surgical intervention.	false
+88f160cde955608aca3851e0e90152e3800733fb	Hypoplastic left heart syndrome (@DISEASE$) is a common @PHENOTYPICFEATURE$ that is universally fatal without surgical intervention.	false
+9e02d48575ca4ee20505ce3b48a2d7320f8a0566	Average hospital charges were highest for infants with @DISEASE$ and common @PHENOTYPICFEATURE$.	false
+c452db8cc46b900a82a9e3ed4ad1b53213d97f41	@DISEASE$ is among the most common major congenital @PHENOTYPICFEATURE$.	false
+3a071926c7dc2247501ada8175760656f4727f71	Using statistical process control to identify early @PHENOTYPICFEATURE$ among infants with @DISEASE$.	false
+baa0254f7c72fbbe601124980228e344b9c9ed63	Hypoplastic left heart syndrome (@DISEASE$) was the most common @PHENOTYPICFEATURE$ diagnosed by postnatal examination (16.6%).	false
+ba71470b590297dbad1c6c5088e0029040ea1fdc	@DISEASE$ (HLHS) was the most common @PHENOTYPICFEATURE$ diagnosed by postnatal examination (16.6%).	false
+ad9d6c8f7bb5a60f1b10d83ce64d6ded1e64fee5	Hypoplastic left heart syndrome (@DISEASE$) is a relatively common complex @PHENOTYPICFEATURE$.	false
+9ecb2287eba8ede8b421af1edd2b20e49f7d34c1	@DISEASE$ (HLHS) is a relatively common complex @PHENOTYPICFEATURE$.	false
+1986de6c88f44f6ccb7485dfe796c107c7fb9331	An infant with @DISEASE$ showed paroxysmal episodes of @PHENOTYPICFEATURE$, hypotension, and hypoxemia upon crying after modified Norwood operation.	false
+16eea64a4186c56c041c707afb5268a276fd5e48	@DISEASE$ is a life threatening congenital @PHENOTYPICFEATURE$.	false
+553b5be7be2a3dfd71c7b64f723a687edbc926f0	We analysed 100 infants with @PHENOTYPICFEATURE$ in the form of @DISEASE$ (HLHS).	false
+b1e5a3a81c9d0f6cab5685c81f7b2039737579a7	We analysed 100 infants with @PHENOTYPICFEATURE$ in the form of hypoplastic left heart syndrome (@DISEASE$).	false
+4f86d9e323806f5da729c41b20b7922c11d7575b	@DISEASE$, a severe @PHENOTYPICFEATURE$, increases parenting stress.	false
+95eb0fc35c60bf029795129248bb443c9aeeebc3	Other night-time respiratory disorders include central sleep apnea, Cheyne-Stokes respiration, @DISEASE$ and mixed @PHENOTYPICFEATURE$ syndromes.	false
+33d61d16fe8c87b1f43052caf8c5ffeefec3846b	Less is known about NIV failure in patients with acute cardiogenic @PHENOTYPICFEATURE$ (ACPE) and @DISEASE$ (OHS).	false
+52e01c61476937e105dca566a446ddf8a402c178	@DISEASE$, @PHENOTYPICFEATURE$, overlap syndrome: perioperative management to prevent complications.	false
+866cfc9b8c95a37a1fc99f6315d05457de3a4652	Described in the specialty literature for over one century under the name of Pickwick syndrome, the @DISEASE$ (OHS) includes the triad: obesity--hypoventilation--@PHENOTYPICFEATURE$.	false
+d9a59ec780c9e534d471ba31600c7172ad427e81	It becomes imperative that conditions commonly associated with hypoventilation (e.g., @DISEASE$, @PHENOTYPICFEATURE$, and rigid chest wall diseases) be carefully evaluated and appropriate treatment implemented to prevent these complications.	false
+ae58d013662e988297432fee49d5e5fd5bbf4e98	Obstructive @PHENOTYPICFEATURE$ and @DISEASE$ also improved significantly in 92?% of the patients.	false
+c673fdf6519e94585e5a352cd056d71be2e3ca2c	Disorders of ventilatory control; e.g., @DISEASE$ and @PHENOTYPICFEATURE$, may present formidable problems, and guidelines for their treatment will be discussed.	false
+781bdd16b7454d6429c9039ddff70c8ad682dba9	Sleep studies are usually indicated when there is a possibility of @PHENOTYPICFEATURE$ or @DISEASE$.	false
+7ce4f835b06430abdce8bb3f89569ab29043f63d	Cardiopulmonary pathology in patients with @PHENOTYPICFEATURE$/@DISEASE$.	false
+e1d98f10a08eb04313cae5331ce8de882df29502	Complex @PHENOTYPICFEATURE$ and @DISEASE$.	false
+390ccd17762906409fe0b42a137c8aefe37e7ffa	Rheumatic fever, juvenile idiopathic arthritis, systemic lupus erythematosus, ankylosing spondylitis/spondyloarthritides, juvenile @PHENOTYPICFEATURE$, @DISEASE$/polymyositis, Kawasaki disease and other autoimmune vasculitides are the commonest pediatric systemic autoimmune diseases with heart involvement.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+8c4ac4cebee3af45a605af524ca1d0cb05a421bd	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and increased FRAX scores in the US National Health and Nutrition Examination Survey.	false
+abdaa6d77440438dab0a03975894354e7fdb523c	Subclinical @PHENOTYPICFEATURE$ in patients with @DISEASE$: are they associated by brain hypoperfusion?	false
+50ce55adbe8bc6f99c83060a6e8fa8a0eeb1c233	@PHENOTYPICFEATURE$ and @DISEASE$: a potentially dangerous combination.	false
+e86781d1fcfe269e47912ff56a623510538249b3	Epilepsies with cerebral calcifications, with or without @DISEASE$ (CD), are rare neurological disorders characterized by @PHENOTYPICFEATURE$ focal seizures, often refractory to antiepileptic drugs.	false
+396c0f0c859889cb8e4c64a526a2247cc23db461	@DISEASE$ presenting as @PHENOTYPICFEATURE$.	false
+fe7183de1a9a3bc96cbeb8ee80439f725d56fef5	Idiopathic @PHENOTYPICFEATURE$; observations on two cases, one complicate by moniliasis and @DISEASE$ and one with an unusual degree of calcium deposition in the bones.	false
+c919ef7600f8074829460eb740f2962fdc66ccbb	Therefore, it must be kept in mind that subclinical @PHENOTYPICFEATURE$ may be related to @DISEASE$, and Celiac disease may be the underlying cause in the patients with overt neurological abnormalities in childhood.	false
+dc1091352d60a87c5e45eb193f30f84408eaa645	Therefore, it must be kept in mind that subclinical @PHENOTYPICFEATURE$ may be related to Celiac disease, and @DISEASE$ may be the underlying cause in the patients with overt neurological abnormalities in childhood.	false
+848909fcada96b000d717ae493417568da1b7361	Therefore, it must be kept in mind that subclinical neurological abnormalities may be related to Celiac disease, and @DISEASE$ may be the underlying cause in the patients with overt @PHENOTYPICFEATURE$ in childhood.	false
+1a621c33fe378e122219a1862714cb2f72a17c2e	Therefore, it must be kept in mind that subclinical neurological abnormalities may be related to @DISEASE$, and Celiac disease may be the underlying cause in the patients with overt @PHENOTYPICFEATURE$ in childhood.	false
+0a4edc56bc410cd47b2cb5e6015d9bf7231eab68	@PHENOTYPICFEATURE$ and @DISEASE$: failure to validate the hypothesis that a link might exist.	false
+206e87881d32e0a49c606759a15e287109bd2c78	Both Type 1 diabetes mellitus (T1DM) and @DISEASE$ (CD) are independently associated with @PHENOTYPICFEATURE$ (BMD) and increased fracture risk.	false
+25af14abee50bbff763c82cf2d30c73cf482467d	Lipohyalinosis is considered an important cause of cerebral @DISEASE$ vessel disease (SVD), including @PHENOTYPICFEATURE$ intracerebral hematoma (ICH) and lacunar infarction.	false
+57af6613a7f808907e34d7711662db9ea8916610	WMH with @DISEASE$ vascular atherosclerosis, possibly caused by @PHENOTYPICFEATURE$, is more common in the NAION group.	false
+86ef8bb9dcec7a469445f7f54625564b1784cc5a	White matter hyperintensities (WMH) are seen on FLAIR-MRI in several neurological disorders, including multiple sclerosis, @PHENOTYPICFEATURE$, Parkinsonism, stroke and cerebral @DISEASE$ vessel disease (SVD).	false
+a1b807d015d6ba8ac741931f83dec8ca20ccc88b	ENF density has been shown to be diminished in diabetic neuropathy as well as other focal and generalized sensory-predominant neuropathies, including the neuropathy associated with anti-retroviral therapy, idiopathic @DISEASE$-fiber @PHENOTYPICFEATURE$, Fabry disease, and diabetic truncal radiculopathy.	false
+22fe33e03ed302e004b7806eff5d7b31d7aaf558	Their clinical manifestations include mental retardation, @PHENOTYPICFEATURE$, low percentiles for height, weight and head circumference, dysmorphic ears, cubitus valgus, pseudoclubbing of fingers, flexion deformity of toes, @DISEASE$ kidneys, elevated serum creatinine and blood urea nitrogen (BUN).	false
+5141723ac87b7c6d9fe01ea413a0263328c146a5	The data support our hypothesis that immune responses driven by distinct neuronal nAChR subtypes expressed in @DISEASE$-cell carcinomas account for several lung cancer-related paraneoplastic disorders affecting cholinergic systems, including autoimmune autonomic neuropathy, seizures, dementia, and @PHENOTYPICFEATURE$.	false
+5b1421ad4b0d8bb32835191750b3bc44d2159f16	Among the conditions associated with MSK are Beckwith-Wiedemann syndrome/hemihyperplasia (13%), horseshoe kidney, congenital @DISEASE$ kidney, @PHENOTYPICFEATURE$, Caroli syndrome, congenital hepatic fibrosis, Ehlers-Danlos syndrome, Marfan syndrome, immotile cilia syndrome, and arterial fibromuscular dysplasia.	false
+3449aabf750fc32b17b1ee86b1de4dd649edb54d	Malformations such as @DISEASE$ eyes and @PHENOTYPICFEATURE$ were observed in heavy-ion-treated embryos, but not in ?-ray-treated embryos.	false
+765237dcc1b72799ef53977e183bb211c4e87f85	Cerebellar @PHENOTYPICFEATURE$ in schizophrenia have been associated with severe negative symptoms, cognitive deficits, and @DISEASE$ cerebellar volume.	false
+f97262ce210f81234fa7cc10076580182f994644	Ventricular septal defects are either isolated @DISEASE$ defects or larger defects associated with pulmonary stenosis, pulmonary @PHENOTYPICFEATURE$, or aortic regurgitation.	false
+b9b1d6528343adc44b312274f3f5ef97d37d644e	We collected data from patients for 6?months afterward to identify those who developed @DISEASE$ or @PHENOTYPICFEATURE$, or received dialysis.	false
+b23711c1ca3ca5125c78f29a96c515e92512f724	Multivariate analysis demonstrated the independent influencing factors of @DISEASE$ were preoperative serum creatinine >1.2 mg/dl, intraoperative urine output <or=60 ml/h, intraoperative @PHENOTYPICFEATURE$ status, and intraoperative use of noradrenaline.	false
+b9d3f8ee1149657b8a833155c9a5895a99859d58	Both acute kidney injury (@DISEASE$) and chronic kidney disease (CKD) are seen more frequently in the neonatal intensive care unit (NICU) as advances in supportive care improve the survival of critically ill infants as well as those with severe, congenital kidney and @PHENOTYPICFEATURE$.	false
+7113d5b2c9c305e22b9161c638d7f0a989b995a2	Acute kidney injury (@DISEASE$) is a process that can lead to @PHENOTYPICFEATURE$.	false
+033cdf3f7f16d62da702a07388ddfa45028246f9	The primary outcome was a composite endpoint of MARCE, which included: @PHENOTYPICFEATURE$ with dialysis, acute kidney injury (AKI) with or without dialysis, contrast induced @DISEASE$, acute myocardial infarction, angina, stent occlusion/thrombosis, stroke, transient ischemic attack, or death.	false
+ebf4f0cec15ed00db63a53b8c935e23b585df466	The primary outcome was a composite endpoint of MARCE, which included: @PHENOTYPICFEATURE$ with dialysis, acute kidney injury (@DISEASE$) with or without dialysis, contrast induced AKI, acute myocardial infarction, angina, stent occlusion/thrombosis, stroke, transient ischemic attack, or death.	false
+871feffd1c08930b317a67b63c8aadf376c5cc20	The incidences of @DISEASE$, functional renal failure, and intrinsic @PHENOTYPICFEATURE$ were 12%, 48.14%, and 51.85% respectively.	false
+7b265ecb324d3c21bde19a22a60383ca21b8dd11	The incidences of @DISEASE$, functional @PHENOTYPICFEATURE$, and intrinsic renal failure were 12%, 48.14%, and 51.85% respectively.	false
+ac63f79ecbbfc6f841c93360a6860e5ae39036a0	The impact of @DISEASE$ and @PHENOTYPICFEATURE$ (using RIFLE score) in 1-year mortality was analysed, along with other confounding variables.	false
+b2446145c371601667abb8452b6fb5fad8ccf06a	Acute and chronic kidney injuries (@DISEASE$ and CKI) constitute syndromes responsible for a large part of @PHENOTYPICFEATURE$, and are today still associated with high mortality rates.	false
+7422b6397baf0b968c9e1469adbadb5ae713b3c9	Acute kidney injury (@DISEASE$) is a disease spectrum ranging from minimal elevation of serum creatinine to complete @PHENOTYPICFEATURE$.	false
+1cfd73848bf4d7c24318986f3d2651610ee23e62	Acute kidney injury (@DISEASE$) in cirrhosis: should we change current definition and diagnostic criteria of @PHENOTYPICFEATURE$ in cirrhosis?	false
+1c62c861131114113890955f242af3f01ef21900	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (@DISEASE$, syndromic and non-syndromic), autism, childhood onset @PHENOTYPICFEATURE$ and attention deficit hyperactivity disorder.	false
+633dc8d11963061ef9f40d2f0439daeaf1a32715	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (@DISEASE$, syndromic and non-syndromic), autism, childhood onset schizophrenia and @PHENOTYPICFEATURE$.	false
+074318a49b09ebe10404f390299c5691f28c9d6f	The association between iron deficiency anemia (@DISEASE$) and @PHENOTYPICFEATURE$ (FS) during childhood is inconclusive due to inconsistent results reported in different studies.	false
+50dab4777eda660c2973fc6c66f89c57144a80d5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+23a1c53f74d8c8d695f0f4608334f023584ec658	The autosomal-dominant form of the @DISEASE$ (AD-HIES) has been described as a multisystem disorder including immune, skeletal, and @PHENOTYPICFEATURE$.	false
+9c8516c13cd2401155bcf65cdbddfa4bdd2841a8	The autosomal-dominant (AD) form of the @DISEASE$ (HIES) has been described as a multisystem disorder including immune, skeletal and @PHENOTYPICFEATURE$.	false
+519120c63338d8af43e771d8214b96e54924e4f0	The autosomal-dominant (AD) form of the hyperimmunoglobulin E syndrome (@DISEASE$) has been described as a multisystem disorder including immune, skeletal and @PHENOTYPICFEATURE$.	false
+b4a3020895b9ba118512bfbdb71cbb1008dcf615	@DISEASE$ is a rare primary immunodeficiency disorder defined by high serum immunoglobulin E titers and associated with characteristic infectious, dermatologic, skeletal, and @PHENOTYPICFEATURE$.	false
+878d194dbbcfb90b5f8db1b5f486a76276ed7a25	A 26-year-old male with known @DISEASE$ presented with @PHENOTYPICFEATURE$ and diarrhea.	false
+11f5253778e31976f41c4bb2d4e5101ae38fbc94	Risk factors including age, type/location/number of @DISEASE$, revision, motility limitation, glaucoma type, asymmetric visual acuity, and @PHENOTYPICFEATURE$ were not significantly associated with new or worsened post-GDD strabismus.	false
+cdfe6b1ea88aa06d24d035117672c35c25becc38	Phacoemulsification cataract extraction alone was the preferred surgical approach in 44%?32% of patients with primary open angle glaucoma and visually significant @PHENOTYPICFEATURE$, and phacoemulsification cataract extraction was combined with trabeculectomy with MMC in 24%?23%, with MIGS in 22%?27%, and with @DISEASE$ in 9%?14%.	false
+67a6ef06a937b3c1ad2831113ee8c92846f3e497	Phacoemulsification @PHENOTYPICFEATURE$ extraction alone was the preferred surgical approach in 44%?32% of patients with primary open angle glaucoma and visually significant cataract, and phacoemulsification cataract extraction was combined with trabeculectomy with MMC in 24%?23%, with MIGS in 22%?27%, and with @DISEASE$ in 9%?14%.	false
+2d7fe9ce6f3ab602252c3220888de2f1d4001da3	Phacoemulsification cataract extraction alone was the preferred surgical approach in 44%?32% of patients with primary open angle glaucoma and visually significant cataract, and phacoemulsification @PHENOTYPICFEATURE$ extraction was combined with trabeculectomy with MMC in 24%?23%, with MIGS in 22%?27%, and with @DISEASE$ in 9%?14%.	false
+1059d0cee88e374f5e349c31717b43e72c92612e	Recognized risk factors for pancreatic cancer include cigarette smoking, chronic/@DISEASE$, @PHENOTYPICFEATURE$ and type II diabetes.	false
+e607354c3326a9f6275282658325231911d392d2	Although its etiology is ill defined; @PHENOTYPICFEATURE$, diabetes mellitus, chronic pancreatitis, @DISEASE$, and conditions that cause pancreatic ductal obstruction, for example tumors and stones, are related to its pathogenesis.	false
+23a19dda99a6a8632dc8c46c2550b7f6737b49ef	We collected 16 @DISEASE$ families, without an additional paroxysmal @PHENOTYPICFEATURE$, of German, Turkish, or Japanese origin with two to eight affected individuals.	false
+b7df546e7196e144db7cf2f7253b453965a668db	To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a @PHENOTYPICFEATURE$ characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and @DISEASE$ (BFIC), caused by PRRT2 mutations.	false
+271c1dbfac95248feb047b2266affe1130b7b194	To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a @PHENOTYPICFEATURE$ characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (@DISEASE$), caused by PRRT2 mutations.	false
+dc3b4096cca0bdccccff42d79fa3c00b4aba8ed3	The identification of heterozygous mutations in the PRRT2 gene in paroxysmal kinesigenic dyskinesia as well as in @DISEASE$ linked episodic @PHENOTYPICFEATURE$ with epilepsy.	false
+52ed80b9949c5ab3d3ede600037e1599379d23f7	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, @PHENOTYPICFEATURE$, additional hypogammaglobulinemia, and growth delay.	false
+73b5908296c431056a58d2fc27f88a24f6255e02	We report a case with a clinical diagnosis of @DISEASE$ (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, @PHENOTYPICFEATURE$).	false
+7ac05596d2921f88130670bea92f19d00dd6e4ea	Concurrent treatment with a @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitor and veno-venous extracorporeal membrane oxygenation in a post-hematopoietic stem cell transplant patient with @DISEASE$: a case report.	false
+10f0bdfcb4ad8b8b611d23c763bfb1df0d62f9b4	On ultrasound biomicroscopy findings, adenoma of the @DISEASE$ shows a solid @PHENOTYPICFEATURE$ pattern, sometimes with small cystoid spaces.	false
+d5697aab717e7086197238a32a1cf9fcbb02998b	These @PHENOTYPICFEATURE$ may represent a clinical spectrum-at its benign end lies PA, while PMA lies at the aggressive end, with @DISEASE$ lying just behind.	false
+fbb025ec40bcff220972328d83e36273548ecf41	We included @PHENOTYPICFEATURE$ involving the dominant AG, SMG, and/or @DISEASE$ and the subcortical course of arcuate fasciculus (AF) and all the patients who underwent preoperative fMRI and DTI to localize the AF and the eloquent cortical areas.	false
+20e6d3454d95e2f4c376f6b72536a1a53f13528b	Adenoma of the @DISEASE$ is a benign @PHENOTYPICFEATURE$ that may remain relatively stable for years.	false
+c61d53f40ae02b3f8d0fb11ee148a4b7394c159a	Moreover, using an IPS ratio > or = 1.4 as a criterion, BIPSS correctly lateralized the tumor in 9 of 17 and 10 of 17 patients at baseline and after oCRH stimulation, respectively, including in 2 patients who had a centrally located @PHENOTYPICFEATURE$ and who had an @DISEASE$ ratio < 1.4.	false
+a84bb912088cf23d5fb20f22096b4396bb213899	Moreover, using an IPS ratio > or = 1.4 as a criterion, BIPSS correctly lateralized the @PHENOTYPICFEATURE$ in 9 of 17 and 10 of 17 patients at baseline and after oCRH stimulation, respectively, including in 2 patients who had a centrally located tumor and who had an @DISEASE$ ratio < 1.4.	false
+1b06d34470f85b7d9a9c1f31d6857bbe2d322bf3	We identified 101 patients with @DISEASE$ and solid @PHENOTYPICFEATURE$.	false
+1032db2a1c157e401f79c5c09aec82d848287f0a	In six patients with no visible @PHENOTYPICFEATURE$, the results of @DISEASE$ sampling supported the diagnosis.	false
+ff1a67a05a65ee69708276e6b311841724010cc9	We studied the @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitor, etanercept, combined with corticosteroids in treating 15 patients (median age, 18 years; range, 1-60 years) with @DISEASE$.	false
+6b61b927ad09c88e74dec0aa0ea081f57de186dd	A total of 210 consecutive pediatric patients, including 131 boys and 79 girls, with various hematologic malignancies, aplastic anemia or solid @PHENOTYPICFEATURE$ who underwent allogeneic HSCT were analyzed to clarify the incidence and risk factors for @DISEASE$.	false
+62a79f0f402a38d35f59cb0463ff15b2828f7565	Huachansu injection (@DISEASE$) is a water-soluble preparation made from Bufo gargarizans's skin, which has been widely used in clinics for @PHENOTYPICFEATURE$ therapy in China.	false
+c8dc490b1f62da7bb7c40a8b10515b512c769421	In order to improve the awareness of this rare @PHENOTYPICFEATURE$, this study aimed to analyze the clinicopathologic and imaging features of six cases of hepatic carcinosarcoma (@DISEASE$) confirmed by surgical pathologic evaluation.	false
+2ceaf6a2c9a959c62c43844a3dfb2397913222d6	At last, xenograft @PHENOTYPICFEATURE$ in nude mice was used to further investigate the antitumor effect of @DISEASE$ in vivo.	false
+651c4ded436cf06fe4f6f4742b0434321ebd1a2b	We also observed that irradiation resulted in higher levels of HCS in human hepatocyte xenografts, compared with three other types of human @PHENOTYPICFEATURE$ xenografts. 2 and 4 Gy radiation had little influence on the @DISEASE$ gene of human lung cancer and brain cancer, mammary gland cancer was more sensitive to the 4 Gy gamma-ray dose compared with the 2 Gy gamma-ray dose.	false
+8108305532d1502875fd5414d57a034f8e241ca6	We also observed that irradiation resulted in higher levels of @DISEASE$ in human hepatocyte xenografts, compared with three other types of human @PHENOTYPICFEATURE$ xenografts. 2 and 4 Gy radiation had little influence on the HCS gene of human lung cancer and brain cancer, mammary gland cancer was more sensitive to the 4 Gy gamma-ray dose compared with the 2 Gy gamma-ray dose.	false
+364ea87613ba0d54cf20982e17490d092ef3b319	Weekly subcutaneous injections of @DISEASE$ prolonged @PHENOTYPICFEATURE$ survival in all cases up to at least 30 days.	false
+aaec4dd268eedd76280087436c665153b660a8f8	To develop a carrier for targeted drug delivery and triggered drug release in a reducing-@PHENOTYPICFEATURE$ environment, reduction-sensitive hyaluronic acid-g-stearic acid (@DISEASE$) micelles were synthesized using a coupling agent.	false
+b223e51813932c3206e49c7a4b7c0e25f20a3cdc	In addition, the application of @PHENOTYPICFEATURE$ organoids combined with other technologies, such as liquid biopsy technology, microraft array (MRA), and high-content screening (@DISEASE$), for the development of personalized diagnosis and cancer treatment has a promising future.	false
+2d4a38097e412881a2ca2bdb359b7e25a6df8460	For decades, the traditional Chinese medicine preparation, Huachansu Capsule (@DISEASE$), has been applied to a variety of solid @PHENOTYPICFEATURE$ and leukemias with significant curative effects.	false
+babd64b1a5bcecd9ff5011b3e6c3bf38b20ac033	Hepatic carcinosarcoma (@DISEASE$) is an aggressive @PHENOTYPICFEATURE$ for which a consensus regarding the clonal origin has not yet been reached.	false
+0a349efdbb9e94ffebf8881bd35c2afdd19231e2	Assuming an approximately linear dose-response relationship between radiation dose and lung neoplasm incidence, approximate increases of 20% or 80% in @PHENOTYPICFEATURE$ incidence over controls would be expected in rats exposed to 239PuO2 and LCS or 239PuO2 and @DISEASE$, respectively.	false
+203d57cb3062d04e3b4097a00c411eb6d6be4b2e	Immunohistochemical examinations were performed using five kinds of histiocytic markers [S100 protein, lysozyme, non-specific cross reacting antigen with carcinoembryonic antigen (NCA), alpha 1-antichymotrypsin (alpha 1-ACT) and alpha 1-antitrypsin (alpha 1-AT)] in biopsied tissues from histiocytosis X, juvenile xanthogranuloma, @PHENOTYPICFEATURE$ tuberosum, @DISEASE$, reticulohistiocytic granuloma and multicentric reticulohistiocytoma, all of which have been classified as histiocytic proliferative disorders.	false
+5deb5e690b415165dad8b0a4e75efc2eb575b618	Familial adenomatous polyposis (@DISEASE$) is a well-known hereditary condition characterised by alimentary system @PHENOTYPICFEATURE$.	false
+69439df4f691ec7c73bbe0d7aa1e38ab4dd87c1f	@DISEASE$ (FAP) is a well-known hereditary condition characterised by alimentary system @PHENOTYPICFEATURE$.	false
+92dead0759de8beb29b2d25517efc59a5bb38cd2	Childhood hepatocellular @PHENOTYPICFEATURE$ in @DISEASE$.	false
+690ba5874c2709621767dc5b19015ad6eceb4518	In addition to neurologic symptoms, @DISEASE$ may be associated with weight loss, cardiac and @PHENOTYPICFEATURE$ and ocular complications.	false
+dfa5ecf67dc0ce6fd0fa376ddb58042548ac223e	Gastric @PHENOTYPICFEATURE$ in @DISEASE$.	false
+41b02e6b2509820158fcd182a97ac8cbdcb8b6a7	Familial adenomatous polyposis (@DISEASE$) is an interesting model for the study of colorectal @PHENOTYPICFEATURE$.	false
+0e5237141cfeed2e967d8483ac5f99a5a496388f	@DISEASE$ (FAP) is an interesting model for the study of colorectal @PHENOTYPICFEATURE$.	false
+a6e108becc0fdb876b584bf5c4d494efa0705d33	@PHENOTYPICFEATURE$ variability is common in cardiac amyloidosis due to @DISEASE$.	false
+2176711f845c5056a8285f38e597ab70519a5302	The accumulation of AGE, RAGE and amyloid in the kidney of FAP patients suggests that these molecules play an important role in the origin and pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+54d863953f5f1b44da631ab298c77a3f2f4d84a1	The accumulation of AGE, RAGE and amyloid in the kidney of @DISEASE$ patients suggests that these molecules play an important role in the origin and pathogenesis of @PHENOTYPICFEATURE$ in FAP patients.	false
+c33257512c3692d1ce7bd9f90b8f1102d9b57dab	Desmoid tumours are locally aggressive @PHENOTYPICFEATURE$ which are common in @DISEASE$ (FAP).	false
+cfa99d535caa9ecf2c0b456fe54be6eb5cfeeef8	Desmoid tumours are locally aggressive @PHENOTYPICFEATURE$ which are common in Familial Adenomatous Polyposis (@DISEASE$).	false
+2c6bd0c2a1d443bfa21a0194a8cca06774fb65f0	Preventative strategies for periampullary @PHENOTYPICFEATURE$ in @DISEASE$.	false
+20da6a0429c9dbbda7c62e9446e70947003da303	Proximal dominant @PHENOTYPICFEATURE$ is rare in transthyretin (TTR)-related familial amyloid polyneuropathy (@DISEASE$).	false
+1d3be9190b8203c9aed7b203c93d9efffe54bbc5	The Social Responsiveness Scale (@DISEASE$) is a tool for quantitative @PHENOTYPICFEATURE$ assessment in children and adolescents.	false
+3c39005c87b2b4804b42b4f8668a3bdd31b8f8b4	Stereotactic radiosurgery (@DISEASE$) has been proposed as an alternative treatment modality to pharmaceutical administration and deep brain stimulation (DBS) for patients suffering from @PHENOTYPICFEATURE$.	false
+4fc849889f51b566d6ed98b480aa4509a513c26c	Pupil dilation metrics correlate with individual differences measured by the Social Responsiveness Scale (@DISEASE$), a quantitative measure of @PHENOTYPICFEATURE$ traits.	false
+1f11d81c22e3c139fadbb98a5ca031337c9fcb69	The Social Responsiveness Scale (@DISEASE$) is an @PHENOTYPICFEATURE$ rating scales in widespread use, with over 20 official foreign language translations.	false
+f49853ed5ba2cd248e7256589eaa4f08478969c5	Even though the development of DBS has supplanted lesioning as the first alternative in @PHENOTYPICFEATURE$ surgery; @DISEASE$ might still be the only treatment option for selected patients.	false
+b6dad44f7d0af5c5626f23929e0ed5ab00774281	Robotic @DISEASE$ is a safe and effective treatment for acromegaly: radiation-induced visual complications and @PHENOTYPICFEATURE$ is rare.	false
+25a8e8527a4aa72d641fa978bdbff81790b4b934	Correlational analyses indicated that @DISEASE$ factors were highly associated with @PHENOTYPICFEATURE$ symptoms and behavioral measures, indicating concurrent and predictive validity.	false
+d6bb3e2884797122975685a2e2a0b684c335f5b1	In contrast to surgery, SRS has the benefit of being noninvasive and associated with a very low incidence of diabetes insipidus, although @PHENOTYPICFEATURE$ may be more common with @DISEASE$.	false
+493c31166e62e7ae56dc0e454f99426087825bb0	Rates of endocrine remission and relapse, post-@DISEASE$ @PHENOTYPICFEATURE$, and radiation-induced sequelae were not increased following higher dose treatment.	false
+f4c36f1ed69b85dff1a13c97edf571be9d19ff8e	A large reduction in spermine synthase in human males due to a splice site variant causes @DISEASE$ with mental retardation, hypotonia and @PHENOTYPICFEATURE$.	false
+13a6ad0ecb996e367d5c98337605c17b7d9bea98	In the medical literature reviewed only two previous cases of @PHENOTYPICFEATURE$ associated with @DISEASE$ were found.	false
+790db2c66ac947b799f5d6fb7e33f40aa12474b5	@PHENOTYPICFEATURE$, inflammation, and osteoclast-mediated bone resorption in rats with @DISEASE$ were dramatically reduced after 7 days of treatment with the JAK inhibitor, which correlated with reduced numbers of CD68/ED-1+, CD3+, and RANKL+ cells in the paws; interleukin-6 (transcript and protein) levels were rapidly reduced in paw tissue within 4 hours of the first dose, whereas it took 4-7 days of therapy for RANKL levels to decrease.	false
+7ba84c9215ea333b46cae8a8ab61c253bd2c315d	Histopathologic grading of acute inflammation with the acute inflammatory score (@DISEASE$) (on the basis of mucosal ulceration, @PHENOTYPICFEATURE$, and quantity and depth of neutrophilic infiltration) and the degree of fibrostenosis was performed at each site, and results were compared with MR imaging features.	false
+34cadc65c8303591f4ffb1f5ef9deb94b3624cb4	The detection of paroxysmal atrial fibrillation (PAF) is crucial in the etiological study of an acute ischemic stroke (@DISEASE$), although this type of @PHENOTYPICFEATURE$ is often under-diagnosed.	false
+9d5cdb3a8b8e78d3ec816ef9e663bd53012c55e6	This study demonstrated that patients with presence of sizable focus of haemorrhage had larger cord @PHENOTYPICFEATURE$ and more severe grade of initial ASIA impairment scale( @DISEASE$) with poor recovery at follow up (P=0.032).Improvement in upper extremity was more than lower extremity.	false
+3bc764eea2418dc2eead28976d46d2f35cde49be	When we compared these animals with normotensive, instrumented controls (n = 5), we found that (1) lymph flow was a function of arterial and microvascular pressures in each group; (2) increased protein permeability, myocardial @PHENOTYPICFEATURE$, extravasated red cells, and infused colloidal carbon were found in both ventricles with @DISEASE$, together with endothelial discontinuities and enhanced abluminal capillary endothelial vesicle formation, when plasma ALDO had risen significantly in response to AII; and (3) macromolecular permeability was no different from that in controls after MX or ALDO plus MX.	false
+afaa8872eceb0d4127cd7638547ab3f07a46c8ab	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant disease characterized by varying combinations of branchial, otic and @PHENOTYPICFEATURE$.	false
+b08f7743dd6e577cce4d75cfd66a03c95f321683	The branchio-oto-renal (@DISEASE$) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and @PHENOTYPICFEATURE$.	false
+b154ed411842c0f59ff74e66a6dba4ff93fea0d7	The most common features of @DISEASE$ syndrome are branchial, hearing, and @PHENOTYPICFEATURE$.	false
+7df49f78fabcdbbcff4ac324210fde0a24b1b1cf	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and @PHENOTYPICFEATURE$.	false
+bda92c6abaad4221bc8194592facb98081003d31	Branchiootic (BO) syndrome is a related disorder that presents without the highly variable characteristic @PHENOTYPICFEATURE$ of @DISEASE$ syndrome.	false
+02c2ca4d1d4b8e9f878f26cdcdde473619091f65	@DISEASE$ is a rare autosomal dominant disorder characterised by branchial arch anomaly, hearing loss, @PHENOTYPICFEATURE$ and other otologic manifestations.	false
+560b83986851c95d0d9bec6f61edbf915a0a7854	Whether families that show dominant inheritance of pits, clefts, and deafness without @PHENOTYPICFEATURE$ represent variants of the BOR syndrome or a separate entity (the @DISEASE$), is still not clear.	false
+2da8344035e3cd3a6eac688842e53ae7d55a1916	Whether families that show dominant inheritance of pits, clefts, and deafness without @PHENOTYPICFEATURE$ represent variants of the @DISEASE$ syndrome or a separate entity (the BO syndrome), is still not clear.	false
+b490c82a45fcdc7c4828c8d3433f0e8fed6eb442	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant disorder characterized by branchial, ear, and @PHENOTYPICFEATURE$.	false
+b490c82a45fcdc7c4828c8d3433f0e8fed6eb442	Branchio-oto-renal (@DISEASE$) syndrome is an autosomal dominant disorder characterized by branchial, ear, and @PHENOTYPICFEATURE$.	false
+1397ce1a30d4f45a49fdd5775d0f4765208b7826	Branchio-oto-renal (@DISEASE$) syndrome is characterized by ear malformations, cervical fistulas, hearing loss, and @PHENOTYPICFEATURE$.	false
+8f6261a724f9b0f61f668a4479aaf90af834df08	Although it is most commonly associated with @DISEASE$, the advancement of imaging techniques has resulted in more incidental idiopathic syringes that are not associated with Chiari, @PHENOTYPICFEATURE$, trauma, or postinfectious causes.	false
+c95c612a0195407290928147e1ce0d8c76ed735d	It is indicated in hydrocephalus secondary to congenital aqueductal stenosis, posterior third ventricle @PHENOTYPICFEATURE$, cerebellar infarct, Dandy-Walker malformation, vein of Galen aneurism, syringomyelia with or without @DISEASE$, intraventricular hematoma, post infective, normal pressure hydrocephalus, myelomeningocele, multiloculated hydrocephalus, encephalocele, posterior fossa tumor and craniosynostosis.	false
+6c6c5be7e2833eb8d3a75f49453fe1af2330371a	It is indicated in hydrocephalus secondary to congenital aqueductal stenosis, posterior third ventricle tumor, cerebellar infarct, Dandy-Walker malformation, vein of Galen aneurism, syringomyelia with or without @DISEASE$, intraventricular hematoma, post infective, normal pressure hydrocephalus, myelomeningocele, multiloculated hydrocephalus, encephalocele, posterior fossa @PHENOTYPICFEATURE$ and craniosynostosis.	false
+c23442f3f7da25f562b1093bf0b6d5d0924367d7	Although excessive yawning has been reported in brainstem strokes, demyelination, and @PHENOTYPICFEATURE$, the cases presented here are the first reports of excessive yawning in patients with @DISEASE$ (CM-I).	false
+0cb020dc64913eba5b5770ddd6b9bc89e779580d	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+c9838c2f7aad55df02e9b8c301eb14e617344592	There was a wide range of clinical associations including @PHENOTYPICFEATURE$, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile @DISEASE$, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos.	false
+b4b38d080d80b3008f35a61f25de2aacb0f379c5	A 65-year-old female patient with a history of abdominal surgery for @DISEASE$ presented with abdominal pain, weakness, @PHENOTYPICFEATURE$, and vomiting.	false
+47be473788a20af43cfb2e654bb8753259714224	The major types of @DISEASE$-associated cancers were gastrointestinal carcinomas (n=228; 47%), lymphoma/@PHENOTYPICFEATURE$, (n=36; 7%), and carcinomas of prostate (n=43; 9%), breast (n=34; 7%), kidney (n=27; 6%), lung (n=26; 5%), female genital tract (n=25; 5%), and carcinoid tumors (n=13; 3%).	false
+5c810215dfd0d6df144a0fdd5b99089df63c77fc	The pathogenesis of optic disc @PHENOTYPICFEATURE$ in type-I diabetes is, according to Hayreh (1981), ischemia of different grade in the district of the posterior ciliary arteries: microangiopathy, rheological anomalies and atherosclerotic @DISEASE$ lesions produce a variability of clinical pictures of increasing seriousness.	false
+a3c2652853ed9a20fce6270f31c764357154e9c0	Adenosine deaminase deficiency (@DISEASE$) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, @PHENOTYPICFEATURE$ and metabolic abnormalities.	false
+365f20a5e1f1b9e6e7437ea067ce1939c12a95c7	Long-term outcomes include developmental and behavioral disability, chronic muscle weakness, @PHENOTYPICFEATURE$, cerebral palsy, and attention deficit disorder (@DISEASE$).	false
+8d0f4325f711e8cae74f0e7fab4fcb9338e8dc05	In a cross-sectional study 101 hand dermatosis patients (49F, 52M) with psoriasis (n = 26), vesicular hand @PHENOTYPICFEATURE$ (n = 33) or contact dermatitis (n = 42) were examined with regard to dermatological [diagnosis, severity, Erlanger Atopy Score (EAS)], allergic (patch test) and psychological aspects [Coping with Chronic Skin Diseases questionnaire (CSD), Allover Depression Scale (@DISEASE$), Social Readjustment Rating Scale (SRRS), questionnaire for measuring Factors of Aggression (FAF)],and Visual Analogue Scales (VAS) concerning itching, scratching and impairment.	false
+1c3119a4c4a83a1b25dc6f25ca3bec22173a8eaa	Using data from the required overseas medical exam for 73,251 adult (??18?years) refugees originating from Burma resettling to the United States during 2009-2016, we assessed average annual percent change (@DISEASE$) in proportion???45?years and age- and sex-standardized prevalence of @PHENOTYPICFEATURE$, diabetes, hypertension, chronic obstructive pulmonary disease (COPD), and musculoskeletal disease, by camps versus urban areas.	false
+70585663cb4cbbae1b14da5e02ab28c92e9fd453	Food allergy, eczema, viral and @PHENOTYPICFEATURE$ were the major complications of AR-@DISEASE$ patients.	false
+c8451453937e07fef01d06dcac5e53d991a73b0a	Autosomal recessive @DISEASE$ has been shown to be mainly due to mutations in DOCK8; these patients are more prone to viral @PHENOTYPICFEATURE$ instead.	false
+e7a64a763ecf0529033db1ddfc381f9efba0a1df	Multiple Staphylococcus @PHENOTYPICFEATURE$ and fungal infections may imply neutrophil dysfunction or the @DISEASE$, and recurrent Neisseria infection is a characteristic manifestation of late complement component (C5-9, or the membrane attack complex) defects.	false
+aeac43b9b04a35db80e4e6bbcfb2ea52ce1317a1	The autosomal recessive form of the @DISEASE$ (AR-HIES) with dedicator of cytokinesis 8 (DOCK8) deficiency is associated with difficult to treat persistent viral @PHENOTYPICFEATURE$, including papilloma virus infection.	false
+93dd5ba81f3c253d2f8bbf0851c9b509d965166b	A distinct syndrome, known as autosomal recessive @DISEASE$ (AR-HIES) manifests as severe eczema, recurrent bacterial and viral @PHENOTYPICFEATURE$, and sinopulmonary infections.	false
+8b973e1694fcab084aee9e1701db5bfd6923ffe3	Although Hyper-IgE Syndrome (@DISEASE$) is a rare immunodeficiency disorder, presenting symptoms may be as common as lung and @PHENOTYPICFEATURE$.	false
+981368d6860f6e3d8af95ba690373c89a27f25f5	Multiple staphylococcal @PHENOTYPICFEATURE$ and fungal infections may imply neutrophil dysfunction or the @DISEASE$,  and recurrent neisserial infection is a characteristic manifestation of late complement component (C5-9, or the membrane attack complex) defects.	false
+8e42cc1ad8a8cef6232aee5d120169de899a568b	Congenital immunodeficiency in @DISEASE$ is characterised by a markedly raised IgE level, recurrent staphylococcal @PHENOTYPICFEATURE$ and pneumatoceles.	false
+33e29d982a3562c8102c282e43d1f55e211a9497	@DISEASE$ (Job's syndrome) is a rare genetic disorder that is characterized by recurrent staphylococcal respiratory and @PHENOTYPICFEATURE$ in addition to elevated serum IgE levels.	false
+0810fd6926bfb4bda0f7389fec308a6844696694	It often characterized by facial features, repeated @PHENOTYPICFEATURE$, eczema and pulmonary infection, including autosomal dominant HIES (AD-HIES) and autosomal recessive @DISEASE$ (AR-HIES).	false
+6b7bda7a8363fb036808c537676c5db98e07e8ed	The @DISEASE$-deficient rats exhibited increased mortality and enhanced pulmonary toxicity as evidenced by increased pathologic damage and @PHENOTYPICFEATURE$ during the normobaric exposure to 85% O2.	false
+0a860390efa989834e213ecef8ac54c35c8d974e	@DISEASE$ with @PHENOTYPICFEATURE$ and ankyloblepharon.	false
+0a860390efa989834e213ecef8ac54c35c8d974e	@DISEASE$ with @PHENOTYPICFEATURE$ and ankyloblepharon.	false
+d9c71693ab371789950f037bf2a5c75c3115ddf2	It is characterized by coarse, wiry, @PHENOTYPICFEATURE$; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and @DISEASE$.	false
+d93c68ec55ab0c181fc0ef39693b004c289fd5f6	It is characterized by coarse, wiry, sparse hair; dystrophic nails; slight @PHENOTYPICFEATURE$; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+ade5a7621188b1442fc67aec0c4c3c0381b6ab51	We present a female infant with @PHENOTYPICFEATURE$ such as bilateral @DISEASE$, ectrodactyly and central diabetes insipidus.	false
+b674f534e53ae971f6dc191dd40719191f2ad589	We present a female infant with facial abnormalities such as bilateral @DISEASE$, @PHENOTYPICFEATURE$ and central diabetes insipidus.	false
+12e366f5518fe0ddf8c30c9c8851afc51cd40c52	@PHENOTYPICFEATURE$, @DISEASE$ syndrome.	false
+ba068f1e26aed3de76291ba2beb9dc75ccd78392	We report a 2-year-old girl with a combination of the ectodermal dysplasia, ectrodactyly, @DISEASE$ (EEC) syndrome, distinctive @PHENOTYPICFEATURE$, scalp dermatitis and atopic disease.	false
+bc1de612e485bc581a6dc882a56b8928ac380cc0	We report a 2-year-old girl with a combination of the ectodermal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$ (EEC) syndrome, distinctive hair abnormalities, scalp dermatitis and atopic disease.	false
+4d67d3c962300aed848ec5fa33dbc95041e6542a	Ectodermal dysplasia, @PHENOTYPICFEATURE$, @DISEASE$ syndrome without ectrodactyly.	false
+a6760c59b0a4737fb30186ced5de924ee42e056c	Ectodermal dysplasia, ectrodactyly, @DISEASE$ syndrome without @PHENOTYPICFEATURE$.	false
+c124bda138ebc486665753f97ecac091dd514781	The patient had hypodipsia, hypernatremia, @PHENOTYPICFEATURE$, failure to thrive, and unilateral @DISEASE$.	false
+6e0966b9a5d07dd5123bd8e244879a61d6fa5539	The patient had hypodipsia, hypernatremia, microcephaly, @PHENOTYPICFEATURE$, and unilateral @DISEASE$.	false
+12e366f5518fe0ddf8c30c9c8851afc51cd40c52	@PHENOTYPICFEATURE$, @DISEASE$ syndrome.	false
+4d0bd2621bff67b6a3228cb57a4515c997227cd9	Results on @PHENOTYPICFEATURE$ control and late toxicity of EBRT combined with @DISEASE$ are good and comparable to?results obtained with EBRT combined with high-dose-rate brachytherapy for the treatment of prostate cancer.	false
+94f7a78f3ec805f055d5e63a4b0f70bb653fa3ab	Incubation of all @DISEASE$ tumor sublines with CsA or verapamil resulted in the restoration of membrane potentials to that characteristic of the corresponding drug-sensitive parental @PHENOTYPICFEATURE$.	false
+fa4d9cb4dd634bc81a3b337cf8ce771356200a31	Incubation of all @DISEASE$ @PHENOTYPICFEATURE$ sublines with CsA or verapamil resulted in the restoration of membrane potentials to that characteristic of the corresponding drug-sensitive parental tumor.	false
+376ddfc758f83722c9e7111722e875924aac5848	Ophthalmic findings included exodeviation (9/10), nasolacrimal obstruction (6/10), shallow orbits (3/10), epicanthal folds (3/10), @DISEASE$ (3/10), upper lid coloboma (2/10), optic disk anomalies (2/10), downslanting palpebral fissures (2/10), microcornea (2/10), @PHENOTYPICFEATURE$ (1/10), nystagmus (1/10), and chorioretinal coloboma (1/10).	false
+15900eb0e691bb6e7766e8fd9a194dc53cf3ff09	We report on a male infant with developmental @PHENOTYPICFEATURE$ failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, @DISEASE$, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.	false
+03b0a7bdfb9d0bcf96b78479da4ed419ca24d73c	In two cases, GPC3 deletions were identified in patients belonging to pedigrees published previously as other @PHENOTYPICFEATURE$ syndromes: one with a diagnosis of Sotos syndrome and the other @DISEASE$ with nephroblastomatosis.	false
+4e0feeaf1d517892bb2b1708d499309fbba9f2df	Germline mutations in DIS3L2 cause the @DISEASE$ of @PHENOTYPICFEATURE$ and Wilms tumor susceptibility.	false
+0945af36ec4d45b678f975b055b54c6c9bb94747	We have examined the mutational status of the GPC3 and GPC4 genes in one patient with @DISEASE$, three patients with @PHENOTYPICFEATURE$ without syndrome diagnosis, ten unrelated SGBS-patients and 11 BWS patients.	false
+114877c03515204c919391318d398290c3848d9c	@DISEASE$ is a rare, autosomal recessive @PHENOTYPICFEATURE$ disorder.	false
+bc7bf96a584d1def6da8a9068d2e967a71de53ea	Significant decreases were seen in the frequencies of the administration of anti-opportunistic infection prophylaxis, odynophagia/@PHENOTYPICFEATURE$, acute/chronic diarrhoea, candida oesophagitis, nonspecific oesophageal ulcer and @DISEASE$.	false
+b7c902a4d13f8312736dc4ee183fef2e049c12ca	Though @DISEASE$ can occur anywhere in gastrointestinal tract, gastrointestinal symptoms are often non-specific such as chronic blood loss anaemia, @PHENOTYPICFEATURE$, diarrhoea, intestinal obstruction.	false
+2691918f2daf348f181472a5a0b2c4ad8135e9f7	Although less frequent, non-tuberculous @PHENOTYPICFEATURE$, @DISEASE$ and lymphoma are other causes of HIV-1-associated PE.	false
+146c063d54ffc51976d0135d1198b3212d3e0b41	The most frequent diagnoses were P. carinii pneumonia (192), tracheobronchial @DISEASE$ (93), tuberculosis (28), and Cryptococcus neoformans @PHENOTYPICFEATURE$ (9).	false
+52eded3e552bc999ec580d025d837bc9555f4419	A report entitled "@DISEASE$ and Pneumocytosis Carinii @PHENOTYPICFEATURE$ among homosexual men in New York City and California" in the MMWR in July 1981 alerted the world to the appearance of a completely new disease.	false
+4e29ee6f9194c7e89e953fd6943fca478cd46da5	Definitive diagnoses made at FFB included @DISEASE$ (KS) (n = 9), invasive aspergillosis (n = 5), PCP (n = 4), Mycobacterium avium complex (MAC) pneumonia (n = 2), cytomegalovirus (CMV) pneumonia (n = 1), Cryptococcus neoformans @PHENOTYPICFEATURE$ (n = 1), microsporidium (n = 1) and Pseudomonas aeruginosa pneumonia (n = 1).	false
+9614b87121c6ecfd4df2b4c2197062b9fbbf33b6	Definitive diagnoses made at FFB included @DISEASE$ (KS) (n = 9), invasive aspergillosis (n = 5), PCP (n = 4), Mycobacterium avium complex (MAC) pneumonia (n = 2), cytomegalovirus (CMV) pneumonia (n = 1), Cryptococcus neoformans pneumonia (n = 1), microsporidium (n = 1) and Pseudomonas aeruginosa @PHENOTYPICFEATURE$ (n = 1).	false
+1d3b376a8f61c3370041b83b2e8c2f5d3730a77e	When a 40-year-old patient with end-stage acquired immunodeficiency syndrome (AIDS) had bloating and @PHENOTYPICFEATURE$, a large epidemic @DISEASE$ (EKS) lesion was found obstructing the pylorus.	false
+dc1aea585aed05ed1845c67225c0b5035cb724a7	OE were distributed as follows: herpes zoster, 9 cases (43%), Pneumocystis carinii @PHENOTYPICFEATURE$, 5 cases (24%), @DISEASE$,3 cases (14%) and tuberculosis, cerebral toxoplasmosis, cytomegalovirus retinitis, and non-Hodgkin lymphoma, 1 case each.	false
+30fbcf31fd40b1991aba315e166bc3b39e151527	Chronic subacute abdominal pain with nausea, @PHENOTYPICFEATURE$, early satiety and weight loss is suggestive of an obstructive lesion caused by lymphoma or @DISEASE$.	false
+303b9c26311fc7bc54fb678d33988e5321fa0022	We report a 39-year-old man who developed intermittent @PHENOTYPICFEATURE$, which was originally thought to be a side-effect of the chemotherapy he was receiving for facial @DISEASE$.	false
+72d369a40b99c4b3ad366090e09def3acaec5a9c	We also detected gastritis varioliformis in 12 specimens, lymphoid follicles in 9, 4 adenomatous polyps in 4, polypoid lesions with @PHENOTYPICFEATURE$ mucosa in 4, inflammatory polyps in 3, and @DISEASE$ in 1. Adenomatous changes were observed within two hyperplastic polyps and low grade dysplasia in one adenoma.	false
+a57336b6db56d08adba9991541453f9104ff9462	We report here a patient with an ectopic ACTH-secreting primary hepatic @DISEASE$ who presented with cushingoid appearance, profound proximal muscle weakness, severe lower extremity @PHENOTYPICFEATURE$, and markedly elevated urinary free cortisol.	false
+78d457e7ece566943d3f438475d7340d6c21ff71	Her @DISEASE$ biomarkers were elevated and other explanations for @PHENOTYPICFEATURE$ were investigated and ruled out.	false
+2dca12c9dc7524d9e4aec62acc3ec0a33099146f	In this review, paraneoplastic syndromes associated with lung malignancy are discussed, including ectopic ACTH syndrome, bronchial @DISEASE$ variant syndrome, secondary hypertrophic osteoarthropathy/digital clubbing, erythema gyratum repens, malignant acanthosis nigricans, sign of Leser-Tr?lat, tripe palms, @PHENOTYPICFEATURE$ lanuginosa, acrokeratosis paraneoplastica, and dermatomyositis.	false
+cdd686a6fa0806a56769d03ebe76f72d034fabb1	The most common ones are lymphoma, well-differentiated liposarcoma, peritoneal carcinomatosis, @DISEASE$, retroperitoneal fibrosis, lipoma, mesenteric desmoid tumor, mesenteric inflammatory pseudotumor, mesenteric fibromatosis and mesenteric @PHENOTYPICFEATURE$.	false
+22ca80ba957402ca2415ffac2bce01e835402d46	CT plays an important role in suggesting the diagnosis in the proper clinical setting and can be useful in distinguishing sclerosing mesenteritis from other mesenteric diseases with similar CT features such as carcinomatosis, @DISEASE$, lymphoma, desmoid tumor, and mesenteric @PHENOTYPICFEATURE$.	false
+601a79445f5f4d8a977e261b7afdd32912242daf	Fetal @DISEASE$ is a rare form of @PHENOTYPICFEATURE$ that is characterized by a complete or incomplete division of the spinal cord by an osseous or fibrocartilaginous septum.	false
+7ddef62b971cd3568138a1a577ed78b78d35e492	@DISEASE$ is a form of @PHENOTYPICFEATURE$ involving a sagittal cleft in the spinal cord with splaying of the posterior spinal elements.	false
+33b758c6e1fbd64d7166275156f22f63a98fa687	Patients who have underwent surgery earlier for tethered cord or for @DISEASE$/@PHENOTYPICFEATURE$ and patients who had radiological evidence of tethering elements like lipoma of the cord on magnetic resonance imaging (MRI) were excluded from the study.	false
+58995145bbf10e340198317af239419c9989fe42	@DISEASE$ is a rare form of @PHENOTYPICFEATURE$.	false
+58995145bbf10e340198317af239419c9989fe42	@DISEASE$ is a rare form of @PHENOTYPICFEATURE$.	false
+92b6b72de201af6e3e8440628ea4d5be6b4f8606	@DISEASE$ is a form of @PHENOTYPICFEATURE$ involving sagittal clefting of the spinal cord, conus medullaris, and/or filum terminale into two hemicords.	false
+c4e9e05efffe88c9d66cb4174fbbf773055398e4	@PHENOTYPICFEATURE$, tethered cord syndrome (TCS), and @DISEASE$ were also present.	false
+1906b8a690cbd8d2eb4dcc1cc790ff6874b9fada	The subsequent discovery and introduction in 2001 of the kinase inhibitor imatinib, as a targeted treatment for @DISEASE$, revolutionized cancer genetic pathways research, and lead to the development of multiple small-molecule kinase inhibitors against various malignancies, including @PHENOTYPICFEATURE$.	false
+7128571ae5a2189b31e68ef15d011f3e42a9346f	We report the clinical and pathological findings in a 16-year-old female with @DISEASE$ who presented with deafness, @PHENOTYPICFEATURE$ and paraplegia, and discuss possible aetiopathogenetic mechanism.	false
+b209f39c46e403dde70769c14fd9e0d0c01891bf	In this article, a 50-year-old male with @DISEASE$ whose first signs and symptoms were unilateral sudden hearing loss and tinnitus in the right ear, @PHENOTYPICFEATURE$ and nausea was presented.	false
+c8976646dbc18410794c1daacf9469060c3f625b	A patient presented with sudden onset hearing loss, tinnitus, and @PHENOTYPICFEATURE$, and was diagnosed with @DISEASE$ with an initial white blood cell (WBC) count of 555 000 per microliter.	false
+ace9a48ac3e8aed80e3e4312449152aa24e424a0	Bilateral @PHENOTYPICFEATURE$ in a patient with @DISEASE$ treated with nilotinib.	false
+29cf0536604a107cdf1e13e43fd8d91eeb62fba2	Of 4 treatment-emergent serious AEs (skin ulcer, osteomyelitis, @PHENOTYPICFEATURE$, and @DISEASE$ (CML)), only CML (1.0?mg/kg/week multiple dose) was considered possibly treatment-related.	false
+7d09ce20cc04ab35877194abf4203210b73b9c51	As far as we know, this is the first case report of @DISEASE$ concurrently developing bone marrow necrosis and @PHENOTYPICFEATURE$; this association was not reported in other types of leukemia or bone marrow malignancies.	false
+dc0812019f8604cc9ea645164db70c2a4bc421ba	@PHENOTYPICFEATURE$ and diffuse osteolytic lesions in the acute phase of @DISEASE$.	false
+cc730f8d6f6da0588a7839f43bd1473b00c4673b	In three groups of patients with @PHENOTYPICFEATURE$, @DISEASE$ and chronic lymphatic leukemia, the fibrinolytic activity, kininogen level and kininase activity in the peripheral blood and bone marrow punctates were analyzed.	false
+ae42aecc66cb195c2ba67fa2b5ae59b4bc2687af	A 38-year-old woman with megakaryoblastic @DISEASE$ (CML) crisis developed recurrent episodes of severe @PHENOTYPICFEATURE$, manifested by nausea and vomiting and later by dyspnea and hypoxia.	false
+f900427ea08b7e94b509856fb04ae6d3d27b2e89	In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3 who displayed aggressive @DISEASE$ and multiple extra-intestinal anomalies including macrocephaly, developmental delay, @PHENOTYPICFEATURE$, hypothyroidism, atrial septal defect, ventricular septal defect and hypospadias.	false
+8a7eac5daa6dfde3a34793dea61772d9aa3f0da9	Pathological phenotypes in inclusion body myopathy (IBM) associated with @DISEASE$ of the bone (PDB), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) (IBMPFD/ALS) include defective autophagosome and endosome maturation that result in vacuolation, weakness and @PHENOTYPICFEATURE$.	false
+e9a9e029b653816d3dbd0aad2568d88433bce190	Here, we present a patient with irregular menses, @PHENOTYPICFEATURE$, hirsutism and infertility, and hyperprolactinemia who was diagnosed as PCOS and @DISEASE$ and admitted to our clinic.	false
+92c93c477ea8cacfaba5c558a4722dca4f3f972b	@DISEASE$ has been associated with @PHENOTYPICFEATURE$.	false
+a5dccf7caa9f6177474463ebf28a7f21fbb40dd3	Further studies are needed to evaluate whether ghrelin affects the prevalence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+daa3e84b982e8c929013a9c2351e7a535731f22b	Fluctuating confusional state due to massive macro-@DISEASE$ resulting in obstructive @PHENOTYPICFEATURE$.	false
+54c24cce0d93441e1cf7587396aefdae065db63e	Giant @DISEASE$ Causing @PHENOTYPICFEATURE$ and Intracranial Hypertension as First Manifestations of Multiple Endocrine Neoplasia Type 1.	false
+2ac377069125fa2f3e7ed3a29a233dad984dc1a5	Having seen patients with both @DISEASE$ and obesity and more recent literature on brain dopamine, dopamine 2 receptors and @PHENOTYPICFEATURE$, we re-evaluated the potential relationship between prolactinoma and obesity.	false
+b3195614b04e1c6efcec29caf2bb87b59d1a5880	Having seen patients with both @DISEASE$ and @PHENOTYPICFEATURE$ and more recent literature on brain dopamine, dopamine 2 receptors and obesity, we re-evaluated the potential relationship between prolactinoma and obesity.	false
+8b4735c0c60f0d8193c276d2f8108e8136f13770	Having seen patients with both @DISEASE$ and obesity and more recent literature on brain dopamine, dopamine 2 receptors and obesity, we re-evaluated the potential relationship between prolactinoma and @PHENOTYPICFEATURE$.	false
+2622cb01ee5760c739c9a1b55fbc17ee3ad477c9	@DISEASE$-associated @PHENOTYPICFEATURE$ treated with bupropion and methylphenidate.	false
+47cb4d5be60c03d4ff4fbdd1d789686a15022b05	The objectives of this study were to determine the prevalence of @PHENOTYPICFEATURE$, overweight, MS, and IR in patients with @DISEASE$ before and after therapy with DA and to evaluate the relation between prolactin (PRL), body weight, fat distribution, leptin levels, IR, and lipid profile before treatment.	false
+3c5ba27571cb6e474a19bff745c7a9dac54ac747	@DISEASE$ manifesting with symptomatic @PHENOTYPICFEATURE$.	false
+3b235d34888d128d86c3eb8d158934a9b8188aba	Syndrome of galactorrhea, amenorrhea, and @PHENOTYPICFEATURE$ as possible indicators of @DISEASE$: a case study approach.	false
+9f685443699195f8bf74193e38a53d7553b02211	Our findings therefore suggest that @DISEASE$ morphology is a marker of the underlying mechanisms of @PHENOTYPICFEATURE$ generation.	false
+e168e50142e57820874d3b52450ee8e44b77eb58	Seizure frequency and epilepsy duration (years of patient's life with seizure activity) were independently associated with @DISEASE$ frequency, suggesting that IED are modulated by @PHENOTYPICFEATURE$.	false
+2f1f6fd43b57442aecdc16fa19fd9355fdf4c86c	Seizure frequency and epilepsy duration (years of patient's life with seizure activity) were independently associated with IED frequency, suggesting that @DISEASE$ are modulated by @PHENOTYPICFEATURE$.	false
+7492fa2b71bd7cccabddb3070123137824106756	Seizure frequency and epilepsy duration (years of patient's life with @PHENOTYPICFEATURE$ activity) were independently associated with IED frequency, suggesting that @DISEASE$ are modulated by seizures.	false
+d3ea815b90b6d42c00792448cbd932060ee2276e	Seizure frequency and epilepsy duration (years of patient's life with @PHENOTYPICFEATURE$ activity) were independently associated with @DISEASE$ frequency, suggesting that IED are modulated by seizures.	false
+b5ee01378071e5810bc84b57378d0f80aab79e6a	The presence of @DISEASE$ at each time point was found to be associated with @PHENOTYPICFEATURE$ or aura recurrence.	false
+c2d25911ec785aa25002760948882c09f84575b9	Absence of @DISEASE$ in PO6m and PO2y correlated with good outcome: 71% without IED remained @PHENOTYPICFEATURE$-free, whereas only 25% with IED at PO6m and PO2y remained seizure-free; p=0.001.	false
+64729178e6473ce15df1235862cfb4b7be3b9ad4	Absence of IED in PO6m and PO2y correlated with good outcome: 71% without IED remained @PHENOTYPICFEATURE$-free, whereas only 25% with @DISEASE$ at PO6m and PO2y remained seizure-free; p=0.001.	false
+0c89266ecad20f1bd95ee73500ef9428845c6648	Absence of IED in PO6m and PO2y correlated with good outcome: 71% without IED remained seizure-free, whereas only 25% with @DISEASE$ at PO6m and PO2y remained @PHENOTYPICFEATURE$-free; p=0.001.	false
+c0b47ab559479feefa04d35ad7c2e762632b8680	Absence of @DISEASE$ in PO6m and PO2y correlated with good outcome: 71% without IED remained seizure-free, whereas only 25% with IED at PO6m and PO2y remained @PHENOTYPICFEATURE$-free; p=0.001.	false
+624001c763e431630cb4af00126a9da851a6c28d	One predictor for @PHENOTYPICFEATURE$ recurrence is the distribution of seizure onset and interictal epileptiform discharges (@DISEASE$).	false
+5d15d11c536d1630cf155a30aa22e650fd1c46d6	One predictor for seizure recurrence is the distribution of @PHENOTYPICFEATURE$ onset and interictal epileptiform discharges (@DISEASE$).	false
+2b387c19e0898d2a9fcee81915aa020c74ecd33a	Four studies found no association between interictal discharges (@DISEASE$) and @PHENOTYPICFEATURE$ relapse.	false
+3b4e1d709463c579499c7c72704c0d5e7f1c781b	Rapid eye movement sleep (REM) usually suppresses interictal epileptiform discharges (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+b8bc41ad0f83afc9de6c44d38939585c0478a573	This hypothesis is supported by the abnormally high prevalence of @DISEASE$ in several developmental disorders, like specific language impairment, and of cognitive and behavioural deficits in epileptic children after excluding confounding factors such as underlying structural brain lesions, drug effects, or the occurrence of frequent or prolonged @PHENOTYPICFEATURE$.	false
+8c762a984151a615d25a6bb9a6e42dbc4305687a	This hypothesis is supported by the abnormally high prevalence of @DISEASE$ in several developmental disorders, like specific @PHENOTYPICFEATURE$, and of cognitive and behavioural deficits in epileptic children after excluding confounding factors such as underlying structural brain lesions, drug effects, or the occurrence of frequent or prolonged epileptic seizures.	false
+1180f03a8a7b512756521e028292c264ab50b490	Hospitalized patients with @DISEASE$ but no prior @PHENOTYPICFEATURE$ often have underlying acute or progressive brain disorders.	false
+1d54fc0968090ca6b7d3862d95321dc3a398ff8a	@DISEASE$ was significantly associated with @PHENOTYPICFEATURE$/aura persistence in patients categorized as mesiotemporal sclerosis and with extensive surgery.	false
+07cd80608185610a60818da97ff3b7453bb506f0	A review of the clinical records and CT scan findings of 11 patients with @DISEASE$ showed @PHENOTYPICFEATURE$ in the majority.	false
+901a866f1eaebbd5b7121c534130e912bef75e01	@PHENOTYPICFEATURE$ and cartilaginous tracheal sleeve in three patients with @DISEASE$ carrying the S351C FGFR2 mutation.	false
+53434b05486a657680f87d4a2c3ce12c44b3da85	This case demonstrates that OSA and @DISEASE$ may present with massive scrotal @PHENOTYPICFEATURE$.	false
+9b3004df2389730c0f3fcda47fac910add80af2e	We present a case of severe scrotal @PHENOTYPICFEATURE$ in a 36-year-old male with OSA and @DISEASE$.	false
+2484cde7cd3468f2923e61f70ccf43ce36ea23d8	In multivariate analysis, male gender, African-American race, previous nonbariatric surgery, a high BMI, @DISEASE$, history of VTE, lower extremity @PHENOTYPICFEATURE$, and pulmonary hypertension were preoperative factors associated with CPIVCF.	false
+1ad7e6a32cf30b8c1e820111d3f90129436f6de2	EH onset was associated with VH onset (p?=?0.046) and occurred after the onset of @DISEASE$ (p?<?0.001), cognitive decline (p?=?0.002), and @PHENOTYPICFEATURE$ (p?=?0.002).	false
+6cf3def32d28c6f3c8a88d46fb8602983c63fca9	A Japanese male patient presented with sensory deafness, blue irises, and @DISEASE$, but no hair/skin @PHENOTYPICFEATURE$, Hirschsprung disease, or neurological abnormalities.	false
+a0cb71e5c644e8aad4881a3bea79895f30d6e96a	These symptoms generally precede the onset of motor symptoms, sometimes by years, and include @DISEASE$, problems with gastrointestinal motility, @PHENOTYPICFEATURE$, sympathetic denervation, anxiety, and depression.	false
+19df1cd1e29e45c4c2c13d99369f6f149d50f4a1	We describe a family consisting of 3 affected men with congenital ichthyosis, @DISEASE$, hypogonadism, nystagmus with decreased visual acuity, strabismus, @PHENOTYPICFEATURE$ of the iris, and mirror movements of the hands and feet.	false
+2d7f4d328d9e8e8cb14b98d9e71bf9aa235e7917	Non-motor symptoms also occur, and include cognitive dysfunction, mood disorders, @DISEASE$ (loss of smell), and REM @PHENOTYPICFEATURE$.	false
+7dd470f43c7a2a9d2224d744d76cc5065da3147c	These disorders are seen primarily in males, who manifest the phenotypic effects of the deletion of the loci of various combinations of adjacent genes: Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal hypoplasia, optic @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism and @DISEASE$ (Kallman syndrome), chondrodysplasia punctata and ichthyosis.	false
+29d2f5a54328e68cced499cdbdbc5588d7c76ed0	The @DISEASE$ (LKS) is characterized by electroencephalographic spike discharges and verbal auditory @PHENOTYPICFEATURE$ in previously healthy children.	false
+0e7155c3f41e0ae6aee69229d1fceebd71c3c43f	The Landau-Kleffner syndrome (@DISEASE$) is characterized by electroencephalographic spike discharges and verbal auditory @PHENOTYPICFEATURE$ in previously healthy children.	false
+fc4c0a5b39edd60bdbdcda68014d623c08445d77	The epileptic diagnoses were as follows: 5 patients were diagnosed with infantile spasms, 4 with the Lennox-Gastaut syndrome, 1 with the @DISEASE$, 1 with nonspecific @PHENOTYPICFEATURE$ disorder, and 3 with partial seizure disorder.	false
+6b6bba2d1b1f3564b672d154dc1df17b99622a2c	The @PHENOTYPICFEATURE$ was prominent, but differed from that of @DISEASE$ and of epilepsy with continuous spike and wave during slow-wave sleep.	false
+d735449314fff48ec8ceb5e0db81d425dfd7c60d	Children with the @DISEASE$ have a variable prognosis, some regain speech and others have permanent @PHENOTYPICFEATURE$.	false
+3b5dc14cb0b1266557e2ad03bdfb59bc324e3619	Clinical and neurophysiological analysis of a case of a 7 year old patient with typical benign partial seizures with rolandic spikes and @PHENOTYPICFEATURE$, differing from those in @DISEASE$ and in typical benign partial epilepsy of childhood presenting as speech dyspraxia.	false
+4eef3bb4a38f8355c7658bc52091eab04f5f542c	The epileptic aphasia pattern found among patients with prominent Rolandic spikes may more frequently involve expressive language than is seen in the typical @DISEASE$, where verbal auditory @PHENOTYPICFEATURE$ is the rule.	false
+e05244678f81e985bc8bb2a24034fdaf866bf9d7	Based on a review of neurophysiologic and neuropsychological studies of auditory and phonologic disorders published these last 20 years, we discuss the association of verbal @PHENOTYPICFEATURE$ and speech production decay, and try to explain the phonologic working memory deficit in the late outcome of @DISEASE$ within the Hickok and Poeppel dual-stream model of speech processing.	false
+712df5858c4070f0a44aa0210ef62b52c43a10fc	@DISEASE$ (LKS) is a rare acquired condition of auditory verbal @PHENOTYPICFEATURE$ and convulsive disorder in children.	false
+854af1774c22b79dad37e814f72b387c10c72cce	Landau-Kleffner syndrome (@DISEASE$) is a rare acquired condition of auditory verbal @PHENOTYPICFEATURE$ and convulsive disorder in children.	false
+3ee0d5421c489f4396fb785e9960d91e24645a77	Episodic epileptic verbal auditory @PHENOTYPICFEATURE$ in @DISEASE$ treated with combination diazepam and corticosteroids.	false
+8fdbb521dd2c06795d20d46d6aeebd792859824d	Landau-Kleffner syndrome (LKS) is an @DISEASE$ disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, behavioral disturbances, and sometimes overt seizures.	false
+9e0e9cfa4389d62f9b48e0e27d06dc561b3a3a57	Landau-Kleffner syndrome (@DISEASE$) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, behavioral disturbances, and sometimes overt seizures.	false
+4355a94311e97320096941dffe9b18abc7a44cd5	@DISEASE$ (LKS) is an acquired epileptic aphasia disorder in which children, usually 3-8 years of age who have developed age-appropriate speech, experience language regression with verbal auditory @PHENOTYPICFEATURE$, abnormal epileptiform activity, behavioral disturbances, and sometimes overt seizures.	false
+ea419d8bf503e38d1f8a45f1cbfbfe568a9aa814	Infantile Pompe disease (@DISEASE$) is a fatal, autosomal recessive @PHENOTYPICFEATURE$ disorder.	false
+900a7df3715c6930edc826bab94076e4ba9ad1af	Palliative local radiotherapy in the treatment of @PHENOTYPICFEATURE$-stage @DISEASE$.	false
+9f387777b0e44404c62943fbc70e3e7d443087d8	F-FDG PET/CT scan unexpectedly showed intense uptake on the left sole, which suggested a @PHENOTYPICFEATURE$ @DISEASE$ lesion (SUVmax = 6.2).	false
+bb53fc063ce2eb073fc28dd61a0b4ed2b041267b	The CXCR4/CXCL12 axis has been implicated in development of both solid @PHENOTYPICFEATURE$ and hematological malignancies and is also relevant in the pathogenesis of the most common primary @DISEASE$ (MF).	false
+e75d50bfdd76bd2d3163b8a1c0ccc8ef15c50317	As @PHENOTYPICFEATURE$ cells in S?zary syndrome (SS) and Mycosis fungoides (MF) possess similar immunophenotypes and the conditions mentioned are often associated with pruritus, the analysis of the IL-31 pathway in @DISEASE$/SS patients is of interest.	false
+37accd7dd8a5e8dbb6dfbf20081df465ab519230	A case of @DISEASE$ - @PHENOTYPICFEATURE$ d'emblee is reported and discussed.	false
+1f84b1d644c3831ef0578f2f9e3347e714a65fb8	To determine the efficacy of palliative radiotherapy in treating @PHENOTYPICFEATURE$-stage @DISEASE$ (MF).	false
+2669dce0d270bbc903a3deef539efdef6e042e90	Two patients who presented with early-stage mycosis fungoides (IA) as the first lymphoma developed @DISEASE$ @PHENOTYPICFEATURE$ after becoming immunosuppressed.	false
+b1afa1af3a566e1a4c7d71497aa435bcd58e55da	Immunocytological characterization of the @DISEASE$ @PHENOTYPICFEATURE$ cell.	false
+531b029874bef82e6cfba63e815e16859bacfa22	@DISEASE$ @PHENOTYPICFEATURE$ cells in both patients expressed multiple T cell associated antigens; Reed-Sternberg (RS) cells had the null phenotype.	false
+c045cbca93a0436750e17578852d25957a15247d	Microarray profiling of microRNA expression was performed to define a microRNA signature in a series of @DISEASE$ @PHENOTYPICFEATURE$ stage (MFt, n=21) and CD30+ primary cutaneous anaplastic large cell lymphoma (CD30+ cALCL, n=11) samples in comparison with inflammatory dermatoses (ID, n=5).	false
+2fd5b3147666eccf693baf220f914b52e602960c	The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (@DISEASE$), which show a variable combination of @PHENOTYPICFEATURE$ and weakness, joint contractures, distal laxity, and respiratory compromise.	false
+214ab29e7be5b2e8434ea672c8e327780fefb755	The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and @DISEASE$ (UCMD), which show a variable combination of @PHENOTYPICFEATURE$ and weakness, joint contractures, distal laxity, and respiratory compromise.	false
+00f72d1ba79c20cafa814d08c99bd2d7a331519a	Hypothalamic hamartoma is the most common @PHENOTYPICFEATURE$ causing @DISEASE$ especially in boys.	false
+4181d1ecffd644a9ae5d6858ee03bf794e382079	To investigate the immune mechanisms for Periplocin from Cortex Periplocae (@DISEASE$) in @PHENOTYPICFEATURE$-bearing mice.	false
+4d5dea9a92a544601e4b8cd587dbff57a6175424	The clinical presentation of HH may vary with the size and position of the mass, although large @PHENOTYPICFEATURE$ typically present with both @DISEASE$ and seizures.	false
+7edc814acf0c9f0c4255001c210d0803d858f38e	Choroid plexus papillomas (@DISEASE$) are rare @PHENOTYPICFEATURE$ and spinal metastases of CPP are even less common.	false
+c505855f36540ef25ed42a52aa6b290adf684a0c	Choroid plexus papillomas (CPP) are rare @PHENOTYPICFEATURE$ and spinal metastases of @DISEASE$ are even less common.	false
+e1e2058a497a1fb4cc6158946685e9e23c810a86	Overall survival from neonatal brain tumors remains similar to previous series; analysis of @PHENOTYPICFEATURE$ subtypes reveals improvements for @DISEASE$ and gliomas.	false
+5d56365d814048633a6f11a0114e99456b29d299	Percutaneous Tibial Nerve Stimulation (PTNS) has been proposed for the treatment of overactive bladder syndrome (OAB), non-obstructive urinary retention (NOUR), @PHENOTYPICFEATURE$, paediatric voiding dysfunction and chronic pelvic pain/painful bladder syndrome (@DISEASE$/PBS).	false
+31bf132ae2adedd994124fa261fd9beba267ca0e	Mice immunized with @DISEASE$ containing immunogens elicit antigen-specific Tc and/or Th responses and could be protected from @PHENOTYPICFEATURE$ challenges.	false
+7f3983a0ebbc1e4f9cb1ddea8a92b68f27147016	The mean @PHENOTYPICFEATURE$ size was 3.7 cm for @DISEASE$ and 6.0 cm for CPC (p < 0.001).	false
+75726799980ac4d6cabde3a875f88b96f372c348	All neuroimaging studies revealed nonhomogenous @PHENOTYPICFEATURE$ with cystic and solid components, except for the case with choroid plexus papilloma (@DISEASE$).	false
+f51ae631d4d67649d2e0aeaa6230b90f69991090	The follow-up of patients with @DISEASE$ showed a poor prognosis, even after correctly removing the @PHENOTYPICFEATURE$ and inserting a shunt.	false
+8886acf7ec0192113b9b51296cefea6b34d1c688	We describe a constellation of distinctive @PHENOTYPICFEATURE$ in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (@DISEASE$) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively.	false
+44f194990c06b08f0c84d3dae2caa5e3b0ca5d38	A classification of @PHENOTYPICFEATURE$ in oral-facial-digital (@DISEASE$) syndromes is offered to help differentiate between the various types of OFD syndromes.	false
+a9e6e938c8bed15a627988516e53b639d43c438f	A classification of @PHENOTYPICFEATURE$ in oral-facial-digital (OFD) syndromes is offered to help differentiate between the various types of @DISEASE$ syndromes.	false
+4953c687117d313de32a9a6943983af80a823d22	We report what might be a constellation of unreported @PHENOTYPICFEATURE$ in a child with @DISEASE$ type II (Mohr syndrome).	false
+70b527e3c854c12fc2a3c29eff1755e20bc729f9	Similar to other inherited disorders associated to ciliary dysfunction @DISEASE$ type I patients display @PHENOTYPICFEATURE$.	false
+b04791c17e6dd3707d6d50bc72634666f170d825	Distal myopathy with rimmed vacuoles (@DISEASE$)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive @PHENOTYPICFEATURE$; eventually, affected individuals become wheelchair bound1.	false
+72e32fd5e3f6d8d845b47df92dff3a5f14dfb814	@DISEASE$ (DMRV)-hereditary inclusion body myopathy (hIBM) is an adult-onset, moderately progressive autosomal recessive @PHENOTYPICFEATURE$; eventually, affected individuals become wheelchair bound1.	false
+de05cf85c018afee43445d4a0454d293f0167f46	@DISEASE$ should be considered in the differential diagnosis of intraventricular @PHENOTYPICFEATURE$.	false
+87d3efa92d7feecda65c89b906b28bd47438bf1b	@DISEASE$ is a rare @PHENOTYPICFEATURE$ of the CNS.	false
+32903ca457e61b156b3e3d3ee81fbf65a50e1075	Angiographic characteristics of @DISEASE$ suggest the origin of @PHENOTYPICFEATURE$.	false
+0e047e5c133b3f8e98815c6018778fdcd827ae8b	@DISEASE$: An unusual intraventricular @PHENOTYPICFEATURE$.	false
+b158d0022b829e2dbe1235c61ae7d2aea4a6bcf5	The @PHENOTYPICFEATURE$ was histologically diagnosed as @DISEASE$.	false
+d9ca063d03324ab2dd49fd038d917065a338a1bb	The @PHENOTYPICFEATURE$ was diagnosed as well-differentiated @DISEASE$.	false
+05544f376705e4d4ded969ad24461296cedab029	@DISEASE$ (CN) is a rare intraventricular @PHENOTYPICFEATURE$.	false
+7ad9ddb30cb95187964470c4c091eaba2f195bc7	The @PHENOTYPICFEATURE$ was removed and confirmed as a @DISEASE$ (CN).	false
+1e9f3d69ec190a7a06dc7234efe05cebd47843cb	The natural history of a recurrent @DISEASE$-like @PHENOTYPICFEATURE$.	false
+6bc9005dac4cc710ded25dcbc85800707837f714	@DISEASE$--a rare benign intraventricular @PHENOTYPICFEATURE$.	false
+87d47f0eca38834caef2673daef6a2f143d3045c	In established @DISEASE$ and high altitude cerebral edema, there is a propensity for vasogenic white matter @PHENOTYPICFEATURE$.	false
+862471824e99f5dcce27b1a9e2030ee483456306	Ambras syndrome (@DISEASE$) is a unique form of congenital universal @PHENOTYPICFEATURE$.	false
+5fe6758e41e12de24b6493af33f32415042d1169	Location of LAD blockages in swine models may affect the development of @DISEASE$ and malignant @PHENOTYPICFEATURE$.	false
+0a40c863e402cea343c72d407033fe04f5abdf27	Reperfusion @PHENOTYPICFEATURE$ was related with cardiomyocytes apoptosis in patients with @DISEASE$, and might influence left ventricular function and promote LV remodeling.	false
+d3dd0778dc213b55cee0def05def9a88cf909c22	High-altitude exposure leads to marked @PHENOTYPICFEATURE$ formation of the optic nerve independent of @DISEASE$.	false
+7df1795bcec0c48e248c0cb31535bb02c28472a4	Ambras syndrome (@DISEASE$) is a unique form of universal congenital @PHENOTYPICFEATURE$.	false
+b53f33f9b4dac6b6907cea272ca0f1a5f61ae682	(3) The proportion of @DISEASE$ patients combined with @PHENOTYPICFEATURE$ and heart failure had decreased significantly.	false
+3bd729ca07e63e64a56d13b526570d4d05315792	Acute mountain sickness (@DISEASE$) can cause capillary hyper-permeability and vasogenic @PHENOTYPICFEATURE$.	false
+4ec8f0ee4cb4ce7bf6ff468b18b627b01f9bd411	They documented all @PHENOTYPICFEATURE$ episodes in patients with @DISEASE$ and compared arrhythmia rates in different therapy groups.	false
+f834e30fe28f53cfd6b477529321d91262107c1a	With a combination of preexisting @PHENOTYPICFEATURE$ and sudden abdominal pain @DISEASE$ should always first be ruled out.	false
+b8ceb99518cc6c1d5369c9c407d236edf5e823c3	Forty-four patients had @DISEASE$, 18 had Type 2, and 30 had Type 4. Evidence of @PHENOTYPICFEATURE$ was uncommon (17 per cent) and was confined to patients who had the Type 2 disorder or azotemia.	false
+7d589be6083525bd72b7d9722e660ad8f0da1cce	Coronary artery disease (@DISEASE$) is the most common cardiovascular disease while atrial fibrillation (AF) is the most common @PHENOTYPICFEATURE$.	false
+d4cdb49e6a23046dee85c7edaacb65c77f5290a2	This study found that hypertension phenotypes such as WCHT were closely associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2c5fe61da0a709666cb7c5849b91811100332c2b	The purpose of this study was to evaluate the frequency and type of @PHENOTYPICFEATURE$ in patients with chronic @DISEASE$.	false
+d93fc3f5c67a325eb7b643285a42eb9a49534702	@DISEASE$ patients also had higher preprocedure prevalence of coronary artery disease (CAD), MI, congestive heart failure (CHF), chronic obstructive pulmonary disease (COPD), and @PHENOTYPICFEATURE$.	false
+9a98c3e6e5a2c7d504a3c20a845ac3ef0a5e2efa	CAS patients also had higher preprocedure prevalence of coronary artery disease (@DISEASE$), MI, congestive heart failure (CHF), chronic obstructive pulmonary disease (COPD), and @PHENOTYPICFEATURE$.	false
+1867f06e63a356430a3788e00ea6aa244c132e37	After accounting for the competing risks of death, there was a higher risk of arrhythmia and CAD during a three year follow-up period (adjusted SHR = 1.50 for @PHENOTYPICFEATURE$; adjusted SHR = 1.10 for @DISEASE$).	false
+8cb4154d1fc71526b8c6c3c47d3a17ebc201a955	After accounting for the competing risks of death, there was a higher risk of @PHENOTYPICFEATURE$ and @DISEASE$ during a three year follow-up period (adjusted SHR = 1.50 for arrhythmia; adjusted SHR = 1.10 for CAD).	false
+fba8a95e9699d9f022b9de740ba540f299f598ad	After accounting for the competing risks of death, there was a higher risk of @PHENOTYPICFEATURE$ and CAD during a three year follow-up period (adjusted SHR = 1.50 for arrhythmia; adjusted SHR = 1.10 for @DISEASE$).	false
+eafa5704cdbee7bc8c7c76fef6e09dd9ee0e734d	After accounting for the competing risks of death, there was a higher risk of arrhythmia and @DISEASE$ during a three year follow-up period (adjusted SHR = 1.50 for @PHENOTYPICFEATURE$; adjusted SHR = 1.10 for CAD).	false
+705a52c905375c5f9f90659cf4f9fe9f84a1500e	Chronic actinic dermatitis (@DISEASE$), a @PHENOTYPICFEATURE$ dermatosis, is characterized by inflammatory lesions, especially on sun-exposed skin.	false
+79ebc6b27b7c37bfc71f589b246bdb91320e69bd	Matched patients with @DISEASE$ had no significant differences in complication rates, with 2.2 and 5.8% of CAD patients experiencing a postoperative myocardial infarction or @PHENOTYPICFEATURE$, respectively.	false
+e968a5c8296ca3ab0e8ac33c588e3fb22eee2fe8	Matched patients with CAD had no significant differences in complication rates, with 2.2 and 5.8% of @DISEASE$ patients experiencing a postoperative myocardial infarction or @PHENOTYPICFEATURE$, respectively.	false
+ea06115c895e4102ebba1c27a3e9b56511309a26	Subjects with @DISEASE$ history, hyperthyroidism, pitting @PHENOTYPICFEATURE$, or subjects taking diuretics or thiazolidinedione were excluded.	false
+766cd18c401da568a3a8ded346c57694fb86d45e	Patients without @DISEASE$ were more often scheduled for EGAG before valvular heart surgery and because of @PHENOTYPICFEATURE$.	false
+465762a1cf3602c17f3e6556d33057eced270978	Obstructive @DISEASE$ requiring revascularization was present in 87.7% of @PHENOTYPICFEATURE$-positive patients versus 25.8% of edema-negative patients (p < 0.001).	false
+1b004cca91544e6883bf4b7055209a92962f11ec	Obstructive @DISEASE$ requiring revascularization was present in 87.7% of edema-positive patients versus 25.8% of @PHENOTYPICFEATURE$-negative patients (p < 0.001).	false
+2ed288a8fab1c26e40e32d8a9750452a99876c13	@PHENOTYPICFEATURE$ may be the presenting sign of @DISEASE$ in children.	false
+f0a92fc294b96093b1dad86e86a8a2589ef80820	@DISEASE$ associated with eosinophilic panniculitis presenting with multiple @PHENOTYPICFEATURE$.	false
+17494c6eccfe8d96dff12e6b7e044b58e2509e0f	MRI revealed one case each of subdural hematoma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8cbadadec96ad42255b01a88e98c009902c0f077	For instance, targeting the CSF spaces, adjacent tissue, or the choroid plexuses themselves is of interest for the treatment of neuroinflammatory and infectious diseases, @DISEASE$, selected brain tumors, @PHENOTYPICFEATURE$ or neurohumoral dysregulation.	false
+e706e77ec17df8455b08d41d2aa134a9c96227bc	The cases were classified according to the following etiologies: reversible cerebral vasoconstriction syndrome (RCVS) 17 (18%), @DISEASE$ (CAA) 15 (16%), posterior reversible encephalopathy syndrome 16 (17%), @PHENOTYPICFEATURE$ 10 (11%), large artery occlusion 7 (7%), endocarditis 6 (6%), and cryptogenic 25 (27%).	false
+8caa8bbedb6943b57cf0e0f729775548788fbd5d	Familial Danish Dementia (FDD), an early-onset non-amyloid-? (A?) cerebral @PHENOTYPICFEATURE$, is neuropathologically characterized by widespread @DISEASE$, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (AD).	false
+d2f1372a70714ecaaa636dedaa08b2bd955d1952	Prolonged diet induced obesity has minimal effects towards brain pathology in mouse model of @DISEASE$: implications for studying @PHENOTYPICFEATURE$-brain interactions in mice.	false
+35c44704f9b3e360e967b21e8b3de6552ad03c5d	Prolonged diet induced @PHENOTYPICFEATURE$ has minimal effects towards brain pathology in mouse model of @DISEASE$: implications for studying obesity-brain interactions in mice.	false
+fbf48bca703c88b9a93f442f3610b99bd4964324	MEHMO is a rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism and @PHENOTYPICFEATURE$, @DISEASE$, and obesity.	false
+d4485cf539e4819ee66e61eafe23916b32707d89	This study has expanded the phenotype in this syndrome by the observation of @DISEASE$, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and @PHENOTYPICFEATURE$, as well as the absence of cleft mandible, which is a hallmark of the syndrome.	false
+ad226ee038fbf539d7a9d755f4fcf29cc002f0d3	This study has expanded the phenotype in this syndrome by the observation of @DISEASE$, better characterization of @PHENOTYPICFEATURE$, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome.	false
+68b834962f3debc96faac2156c686bebb15dc9ac	Intrauterine growth retardation, ichthyosis, @DISEASE$, abnormal facial findings and @PHENOTYPICFEATURE$ are its key features.	false
+993a90d222e5815f8abb5f99624697b9d7986f24	The phenotypes associated with DDX3X variants are heterogeneous and include brain and behavioral abnormalities, @DISEASE$, hypotonia, and @PHENOTYPICFEATURE$ and/or spasticity.	false
+288f7ad5ba1ec9f3c40516c93d3804be2661fb3e	The phenotypes associated with DDX3X variants are heterogeneous and include brain and @PHENOTYPICFEATURE$, @DISEASE$, hypotonia, and movement disorders and/or spasticity.	false
+8ba2fe0a82279920341d59c0205bcff51c060992	Additional features included @DISEASE$, @PHENOTYPICFEATURE$, spasticity, and scoliosis.	false
+8f0828c79a0b43503524e8ab38356ed72d119301	We report a consanguineous Sudanese family whose two affected sons presented with a lethal disorder characterised by severe neonatal @PHENOTYPICFEATURE$, hypertonia, @DISEASE$ and intractable seizures.	false
+cd1f167b8706ab427fc1bcb6056526829ad0f828	Other sequelae that may be evident only after the neonatal period can include chorioretinitis, @PHENOTYPICFEATURE$ with mental or motor impairment, and @DISEASE$.	false
+6a784ce45f3fa31a9d504ec8bbf7acbaff2bb934	FAM160B1 deficit associated with @DISEASE$, severe intellectual disability, ataxia, @PHENOTYPICFEATURE$ and speech problems.	false
+1541f9a9cc5ffda8c3f1bd61e16a8654d83ae81c	Intrauterine growth retardation, ichthyosis, @DISEASE$, abnormal facial findings, and @PHENOTYPICFEATURE$ are its key features.	false
+03305073cc2af3343e505a2ece4bd34e0c05594a	Three sibs with phalangeal anomalies, @DISEASE$, severe mental retardation, and @PHENOTYPICFEATURE$.	false
+c6e60287752f802940017aac4c35f4e6249a1276	BrainAGE scores were highest in participants with @DISEASE$ and @PHENOTYPICFEATURE$/overweight (3.83 years, 95%CI?=?2.35-5.31)	false
+8d9dc94288784104e06eeef535cee9480a3e8ab5	TLG (HR?=?4.8/8.9) and ASP (HR?=?7.8/7.4) as significant predictors with respect to PFS/@DISEASE$ in case of first @PHENOTYPICFEATURE$ manifestation.	false
+cbf534bace3c5b0d378c61b8f3d5089f750d3078	Only for T3/T4 @PHENOTYPICFEATURE$, there is a very small significant advantage of ALND for RFS but not for @DISEASE$.	false
+4ae443b9294437c7d3c7f664867314d5cb1bd9f9	Multivariate analysis of prognostic factors revealed that OTCs, histological grading, and @PHENOTYPICFEATURE$ size are significant predictors of DFS; OTCs and grading of @DISEASE$.	false
+7fc32990639b1d7e4554ba1a243011485e23ef3d	There is an association between AST and improved RFS or @DISEASE$ for breast cancer patients with T1a @PHENOTYPICFEATURE$.	false
+9ed6b3da0d8ff71792333eafe7ec356e80f5a7f7	In the multivariate analysis, the histologic type of mucinous carcinoma and an irregular @PHENOTYPICFEATURE$ border were most significant for @DISEASE$ and DFS.	false
+2a7ae85435f9f48d7ef471f1a2defb98596e6290	Using multivariate analysis, old age, distant tumor stage, surgery, and low @PHENOTYPICFEATURE$ grade were predictors of OS for @DISEASE$ patients.	false
+45a69c0008ac2e87e4ff395167d2581ac837614a	Using multivariate analysis, old age, distant @PHENOTYPICFEATURE$ stage, surgery, and low tumor grade were predictors of OS for @DISEASE$ patients.	false
+9cf729f051ad09ce4b04bffd934a7bc9932bdf5b	Patients with T1-2 @PHENOTYPICFEATURE$ which received the radiation dose between 55 and 60Gy had superior locoregional control, DFS and @DISEASE$.	false
+86c50df4cafdb5656aee1ac0b89fe5788bdb2c1a	Patients with FIGO stage I aneuploid @PHENOTYPICFEATURE$ showed significantly shorter disease-free interval (DFS) and overall survival (@DISEASE$).	false
+bf9a3164264f38d529beee0d581aee9ca88b089e	A Cox analysis revealed age at diagnosis and microscopic residual @PHENOTYPICFEATURE$ (TNM R1) as highly significant influencing factors on @DISEASE$.	false
+ff793b58db43f0552e7aed34d67b83e63af93928	Old age, surgery, and low @PHENOTYPICFEATURE$ grade were also predictors of CSS for patients with @DISEASE$.	false
+6cc55b0b8668603008abebd7f85359942b67c51d	The classically described presentation is of insulin-dependent diabetes, followed by @PHENOTYPICFEATURE$, @DISEASE$, and sensory neural deafness.	false
+da660af4eeba5490110aa8a0391553f6bd0d1261	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?	false
+7a625eeacb21253f6891226062d7feffa714523e	Partial @DISEASE$ complicating nonketotic @PHENOTYPICFEATURE$ hyperosmolar coma.	false
+a62a0ca5b2836c608ec2e471c4f4091e951346da	Histopathology of papule suggested a diagnosis of non-Langerhans cell histiocytosis and systemic evaluation showed @DISEASE$ and @PHENOTYPICFEATURE$.	false
+92558f9f38d9a588c026dbde1925ddcbef3d907a	@PHENOTYPICFEATURE$ was present in all, sensorineural hearing loss in 4/7, @DISEASE$ in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects.	false
+642ae9dc74bc8a1c5f394a501903c4c8655fd267	@DISEASE$ is also a component of autosomal recessive Wolfram syndrome 1 or DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness) (OMIM 222300)(1), an autosomal recessive disorder.	false
+380bb45a95a5ff80ded0e7793ac6e4e6df431223	The frequency of systemic findings was as follows: @PHENOTYPICFEATURE$ (100%), diabetes mellitus (92.3%), @DISEASE$ (38.5%), sensorineural hearing loss (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases.	false
+1e203a3267aba7c2d8fb8790cec8383579fa84af	Juvenile onset diabetes mellitus, @DISEASE$ and @PHENOTYPICFEATURE$ (Wolfram syndrome)--neurological findings and prognostic implications.	false
+2efeb14df958f7888f1dffffb5ce15d78bd1699a	WS1 is a rare disorder characterized by the development of insulin-dependent diabetes mellitus at an average age of 6 years, followed by @PHENOTYPICFEATURE$ (figure) at an average age of 11 and partial @DISEASE$ and deafness in adolescence.	false
+4457fa246981cfadee3790d6b4454a5358856550	Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus (DM), @PHENOTYPICFEATURE$ (OA), @DISEASE$ (CDI) and deafness (D).	false
+e56a9d4fd4a89da6c657c768cee343b1d48bd394	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: @DISEASE$; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+9aa5fbdbc36f2a70e94145aec8478962335f59a2	We conclude that the @DISEASE$ analysis can successfully summarize the correlations between a large number of variables, and that @PHENOTYPICFEATURE$, neck size, and certain cephalometric measurements may be used together to evaluate OSA severity.	false
+0c22546a295dfafa368c5c0ea4713779b33f15d2	Cochlear implantation in children with @PHENOTYPICFEATURE$ less than 12 months of age was associated with better @DISEASE$-AC than in children implanted over 12 months of age up to 2 years after implantation.	false
+e6c88a3a2129199a5b5ebcc53196096e8ca553f4	Perceived life stress (@DISEASE$) and cognitive restraint are associated with increased comfort food intake under stress and lead to weight gain and @PHENOTYPICFEATURE$, but the mechanisms by which they do so remain unclear.	false
+69c0011eb6ba85ec1bfca36548d8678fc7f9627c	Cardiac patients suffered from post-MI, CABG or @PHENOTYPICFEATURE$; all of the neurological patients suffered from amiotrophic @DISEASE$ (ALS).	false
+7a52704c25451202ec5a0f134a9b38d28ac51697	In all cases, the clinical manifestations of @DISEASE$, including fever, fatigue, @PHENOTYPICFEATURE$, swollen lymph nodes, and proteinuria, were alleviated or abolished by treatment.	false
+30c23cc1b943c4976f92227d0fe720765e6e44f8	Minimal change disease (@DISEASE$) is a major cause of idiopathic nephrotic syndrome (NS), characterized by intense proteinuria leading to @PHENOTYPICFEATURE$ and intravascular volume depletion.	false
+a0bfa29decc2866db53d130df4f21cffa25ecbd7	Through investigations of the inflammatory responses in @DISEASE$ including myocardial necrosis, fibrosis, and @PHENOTYPICFEATURE$, we have gained further insight into the pathogenesis of MCD.	false
+aa99e1547af57311a58344f7b514857fc7a0762f	Through investigations of the inflammatory responses in MCD including myocardial necrosis, fibrosis, and @PHENOTYPICFEATURE$, we have gained further insight into the pathogenesis of @DISEASE$.	false
+1c5f7dd8a5aa1628e2a8b07bf75f1a9566c23954	Kaposi sarcoma herpesvirus (KSHV)-associated multicentric Castleman disease (@DISEASE$) is a rare, polyclonal lymphoproliferative disorder characterized by flares of inflammatory symptoms, @PHENOTYPICFEATURE$, cytopenias, lymphadenopathy, and splenomegaly.	false
+3003472c61d84390cf4737ed81f72505bb505f87	We discuss the classification of @DISEASE$ according to the embryologic stage of cerebral cortex at which the abnormality occurred and the unique imaging features of various malformations, including @PHENOTYPICFEATURE$, hemimegalencephaly, lissencephaly, focal cortical dysplasia, heterotopias, polymicrogyria, schizencephaly, and neonatal CMV infection.	false
+bdce5a0dfe6d58a2752ae2eb5c25122e815583ac	Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with @PHENOTYPICFEATURE$ and a wide range of @DISEASE$.	false
+7053938e1b2990c938be9ae4ddad0786b0a8f810	In the children with non-@DISEASE$ lesions, plasma colloid osmotic pressure was significantly lower in the hypovolemic types (4.2 +/- 0.4 mmHg) than in those with stable @PHENOTYPICFEATURE$ (13.0 +/- 3.8 mmHg; P < 0.05); in MCD, no such difference existed (respectively, 8.1 +/- 3.0 and 9.9 +/- 2.2 mmHg).	false
+88e817591b55fa54cc9fec5b231c32e193f1db15	In the children with non-MCD lesions, plasma colloid osmotic pressure was significantly lower in the hypovolemic types (4.2 +/- 0.4 mmHg) than in those with stable @PHENOTYPICFEATURE$ (13.0 +/- 3.8 mmHg; P < 0.05); in @DISEASE$, no such difference existed (respectively, 8.1 +/- 3.0 and 9.9 +/- 2.2 mmHg).	false
+c8139079636a734edc99b974833e32d30efd573a	Minimal change disease (@DISEASE$) is one of the most common causes of nephrotic syndrome in children, leading to heavy proteinuria and @PHENOTYPICFEATURE$.	false
+c46f879bf4597e96a90fbd0703e1d6f33f6204e0	In summary, children with nephrotic syndrome may present with pathophysiologic pictures of decreased effective circulating volume or of stable @PHENOTYPICFEATURE$, regardless of whether they have non-MCD or @DISEASE$.	false
+6f5d0757384d92d916fc6da5cad7a7469e97b60e	Minimal change disease (@DISEASE$) is an important cause of nephrotic syndrome and is characterized by massive proteinuria and hypoalbuminemia, resulting in @PHENOTYPICFEATURE$ and hypercholesterolemia.	false
+b2bc8159578bffb4e5b47e37861127e57f8ba060	Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of @PHENOTYPICFEATURE$, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, @DISEASE$, and acne syndrome (PAPA).	false
+19969c56e2d9e38a8f0bbfa4d8f7a4e8ebe4c3d3	Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of mental retardation, @PHENOTYPICFEATURE$, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, @DISEASE$, and acne syndrome (PAPA).	false
+86fd123434d70a268494ddc6ed1c58a06ea07462	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as @DISEASE$, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, brittle cornea syndrome, and posterior microphthalmos), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and telecanthus, familial retinal arterial macroaneurysms, and spherophakia with @PHENOTYPICFEATURE$).	false
+0860a8a7c670ebc37eaeef26f4185db6af00ecb5	We report a 36-year-old man with severe intellectual disability, aphasia, and @PHENOTYPICFEATURE$, with high myopia and @DISEASE$ (JOAG).	false
+8409cc77713b073c9031220aae283885131ebbba	Excluding eyes with outer retinal changes, isolated inner nuclear layer (INL) cysts were found in 6 of 131 eyes with glaucoma (4.6%) (3 uveitis, 1 prior hydrocephalus, 1 uveitis and pars plana vitrectomy, and 1 @DISEASE$) and 21 of 70 eyes with nonglaucomatous @PHENOTYPICFEATURE$ (30%) (5 optic neuritis, 11 anterior visual pathway tumors, 2 papilledema, 3 other) (P < .0001).	false
+fede2517dd140800ef3881e19118fbcd20b722a8	In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, @PHENOTYPICFEATURE$, and deafness were observed in addition to myopia, @DISEASE$, posterior polar cataract, and dilatation of the urinary tract.	false
+a045f5a4eaac5fd6eec1296718ffaf9666af6edc	This model made a breakthrough by providing key insights into the behavior of these nuclei in hypo- and @DISEASE$-kinetic @PHENOTYPICFEATURE$.	false
+c6baa266c6067b71841b6da2b6d87944d9baba61	Hyperimmunoglobulin E (@DISEASE$ IgE) syndrome, also described as Job's syndrome, is a rare primary immunodeficiency disease characterized by recurrent skin and respiratory tract infections, chronic eczematous dermatitis, @PHENOTYPICFEATURE$ associated with markedly elevated serum IgE levels.	false
+d30bfdf1268f0ebd413f28e51114b03be66facda	The @DISEASE$-Pract Study : a multicentre survey on the accuracy of the echocardiographic assessment of @PHENOTYPICFEATURE$ left ventricular hypertrophy in clinical practice.	false
+fd9c994dfd3b8801dd2997b4e5feb9c2ed2b48bf	@PHENOTYPICFEATURE$ and @DISEASE$-beta-lipoproteinemia had a close relation to the development and acceleration of atherosclerosis.	false
+6140be6a8a812af32c60595bbc2788e2eb6ee50a	Perhaps studies of different forms of apoB and apoE and of HDL subgroups and @DISEASE$-alpha-lipoproteinemia will explain why certain individuals develop @PHENOTYPICFEATURE$ and premature atherosclerosis.	false
+23fb96727983801849dec5c04d96e66981844013	@PHENOTYPICFEATURE$ and @DISEASE$-alpha-lipoproteinemia in schoolchildren.	false
+67d93180d3ea6eb3403c1751b01ac327abfbade8	@DISEASE$-immunoglobulin E syndrome (HIES) is a compound primary immunodeficiency characterized by a highly elevated serum IgE, recurrent staphylococcal skin abscesses and cyst-forming pneumonia, with disproportionately milder inflammatory responses, referred to as cold abscesses, and @PHENOTYPICFEATURE$.	false
+da4e80ff70dff0f879042316e659fa694d6403e0	This chapter reviews the treatment of endocrine disease in pregnancy, including diabetes mellitus, hypo- and hyperthyroidism, adrenal and pituitary disorders, and @DISEASE$- and @PHENOTYPICFEATURE$.	false
+892af06ed4da1a4aed14b982286663bc1b4fc029	On the basis of this study, we conclude that posttransplant diabetes mellitus occurred in 7.5% patients, hypercholesteremia and @DISEASE$-triglyceridemia occurred in 25.83% patients, posttransplant erythrocytosis affected 7.5% patients, and @PHENOTYPICFEATURE$ occurred in 1 renal transplant patient (1.25%).	false
+1290d832ed3f632b90e46eadbcda2ea60e444879	In the U.S. multidisciplinary pediatric pain clinic where I conducted 18 months of fieldwork, a widely held explanatory model tied the neurobiology of intractable pain to certain features of @PHENOTYPICFEATURE$ (PDD) such as concrete thinking, an interest in details, and @DISEASE$-attentiveness.	false
+0a61a25e59651f4a1f84fb4b9c9ac9def08821cd	In the setting of significant physiologic stress, renal function becomes dependent upon prostaglandins and NSAID use may be associated with acute deterioration of renal function, including development of sodium retention, @PHENOTYPICFEATURE$, @DISEASE$, and or papillary necrosis.	false
+3bc77a926fbddf85407f0aa0ba630e4770496dd9	A severe form of this with a generalized exanthem, @PHENOTYPICFEATURE$ and liver involvement has been termed the allopurinol hypersensitivity syndrome (@DISEASE$).	false
+5d8b01b84044196b6c119b0e3314e14fdcba2974	She was given extended-release VPA as a trial and developed @DISEASE$ with a generalized rash, @PHENOTYPICFEATURE$, liver and kidney involvement, and eosinophilia one week after the initiation of treatment.	false
+dde35f27622771edab1d01c41781bc05ad0c8ce3	We herein report a 5-year-old boy who developed unexpected agranulocytosis with fever approximately one week after recovering from the typical symptoms of @DISEASE$, characterized by @PHENOTYPICFEATURE$, rash, lymphadenopathy, and hepatitis, but lacking eosinophilia or lymphocytosis.	false
+de57cb5c7a1001a6d3c095db50db169ede0d72f9	The clinical manifestations of @DISEASE$ include a triad of symptoms consisting of dermatologic rashes, @PHENOTYPICFEATURE$, and evidence of systemic organ involvement.	false
+032660ffb130abd9c67a3f320e968676141a296a	@DISEASE$ is typically associated with the development of skin rash, @PHENOTYPICFEATURE$ and internal organ dysfunctions.	false
+62dbb632169d34a7267f7410e938d1abb8cea89d	Anticonvulsant hypersensitivity syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, skin rashes and involvement of the internal organs.	false
+9557c65c47ec1613e0c5f1e2d0e2fa13ee93ff32	Anticonvulsant hypersensitivity syndrome (@DISEASE$) is a rare, potentially fatal, idiosyncratic drug reaction characterized by @PHENOTYPICFEATURE$, morbilliform rash, lymphadenopathy, hepatitis, and hematologic abnormalities.	false
+67f7347ac3cd07f6c8f9354f6fdc478225bdcdb2	Fourteen of 36 children who experienced a rash, urticaria, pruritus, @PHENOTYPICFEATURE$, or hepatotoxicity associated with aromatic anticonvulsants met the criteria for @DISEASE$ (mean age 10.4 +/- 6.5 y; males to females 8:6, white to African-American to biracial 10:3:1).	false
+873d7a00b6e676ba8a15180de5617e0246958224	@DISEASE$ is an infrequent, but potentially serious, clinical entity and must therefore be suspected in patients taking AED who develop @PHENOTYPICFEATURE$, rashes or disorders affecting the internal organs.	false
+3c898027eab98d2c8d3f9195fbc4693565df84b1	This reaction can be ranged from mild cutaneous rash to anticonvulsant hypersensitivity syndrome (@DISEASE$) or drug reaction with eosinophilia and systemic symptoms (DRESS) that includes @PHENOTYPICFEATURE$, rash, eosinophilia and involvement of multiple internal organs.	false
+af694eb88bf655486540f0b7be278be3568f7a91	@DISEASE$ with @PHENOTYPICFEATURE$ in siblings.	false
+dcdf12b97b5c4c411a9573dca37a2e5470e4e92a	@DISEASE$ type B (JSB) is a developmental disorder of the nephronophthisis (NPH) complex with multiple organ involvement, including NPH, coloboma of the eye, aplasia of the cerebellar vermis, and the facultative symptoms of psychomotor retardation, @PHENOTYPICFEATURE$, and neonatal tachypnea.	false
+052127ff7cb768d7ea9509320fb142fcf4ab5d12	@DISEASE$ type B (JSB) is a developmental disorder of the nephronophthisis (NPH) complex with multiple organ involvement, including NPH, coloboma of the eye, aplasia of the cerebellar vermis, and the facultative symptoms of psychomotor retardation, polydactyly, and neonatal @PHENOTYPICFEATURE$.	false
+58b6cbd3336c7eb6af8cdef2a3bbc2358bb05bbb	@DISEASE$ (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable @PHENOTYPICFEATURE$.	false
+99536ab348ff24c0feed0a3c4274f7e2e95f8be8	For children presenting with ataxia and psychomotor retardation, @DISEASE$ is a more obvious diagnostic choice, but it is also important to keep this unusual disorder in mind as a differential diagnosis of neonatal @PHENOTYPICFEATURE$ with apnea.	false
+e153072298b6dad711517fcb4c31b187384b27bb	Fetal magnetic resonance imaging demonstration of central nervous system abnormalities and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+7d415f434ec5b62f6cfaecb2f2e42cc51ced790d	Two siblings are described with clinical features of @DISEASE$ associated with unilateral ptosis, severe visual disturbances with normal appearing fundi, and an occipital meningocele; one child also had @PHENOTYPICFEATURE$.	false
+7b4e538b960e4f1382500ae7f128172148c80383	@DISEASE$ with @PHENOTYPICFEATURE$ and optic coloboma in two sibs.	false
+2687fc26678efcce44d72b5b76530b681c5e5793	The features of OFD type II overlap with those of OFD type VI, @DISEASE$, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	false
+1c08ef0a2c6b7b48f2c37bb338fa182f42a1ee18	We report on elucidation of molecular basis for syndromic ID associated with ptosis, @PHENOTYPICFEATURE$, and MRI features suggestive of @DISEASE$ using homozygosity mapping followed by exome sequencing.	false
+79dc5dc694b3ff7cc443079e61d54b0d08ff5124	Mutations in inositol polyphosphate 5-phosphatase, INPP5E, have been identified in @DISEASE$, a rare congenital disorder characterized by midbrain malformation, retinitis pigmentosa, renal cysts, and @PHENOTYPICFEATURE$.	false
+26589520b6e4287c0a29cef80bc2a8f2695bffa8	Aortic calcification and @PHENOTYPICFEATURE$ demonstrated by CT in a teenager with @DISEASE$.	false
+0082a7191eb2568cd79888830f06d8182d0d18d8	Final diagnoses included extrahepatic biliary atresia, neonatal @PHENOTYPICFEATURE$, cystic fibrosis, metabolic liver disease, alpha 1-antitrypsin deficiency, bile duct stenosis, @DISEASE$ (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+8ceec999af0b52e888bd208131325d8cf26fdd99	Final diagnoses included extrahepatic biliary atresia, neonatal @PHENOTYPICFEATURE$, cystic fibrosis, metabolic liver disease, alpha 1-antitrypsin deficiency, bile duct stenosis, Alagille syndrome (@DISEASE$), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis.	false
+409793e63573eda4228075a780f8f00befa87709	Two cases of neonatal @PHENOTYPICFEATURE$, 2 cases of @DISEASE$, and 1 case of Byler syndrome acted as controls.	false
+c3e08c9cc01997956636187e00abf75dea1cdf7c	To clarify whether an abnormal bile acid pattern has a role in the pathogenesis of Alagille syndrome, we compared serum bile acid patterns in seven with @DISEASE$ with those of patients with congenital biliary atresia (CBA), neonatal @PHENOTYPICFEATURE$ (NH) and normal infants.	false
+70cbad0799f629fcb31f7313f2d564352ad9e86c	To clarify whether an abnormal bile acid pattern has a role in the pathogenesis of @DISEASE$, we compared serum bile acid patterns in seven with Alagille syndrome with those of patients with congenital biliary atresia (CBA), neonatal @PHENOTYPICFEATURE$ (NH) and normal infants.	false
+d3618fbf84958867cea8c877fd0aa85b3f3535e7	The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b010fde71f6f229007c247ed93c7694d839aef73	Twelve patients had neonatal @PHENOTYPICFEATURE$, 12 biliary atresia, and one each @DISEASE$ and alpha 1-antitrypsin deficiency liver disease.	false
+b274302d5e863de339131d9b0105d0f4f60295aa	The different diseases of the transplants were: biliary atresia (9), @DISEASE$ (4), deficit alpha 1-antitrypsin (3), autoimmune hepatitis (2), neonatal @PHENOTYPICFEATURE$ (1), Byler disease (1), Wolman disease (1).	false
+0dfa1af13b41d9e338052811d1e0d7d0adc07446	The entities that serve as prototypes for these histologic patterns are covered, including biliary atresia, idiopathic neonatal @PHENOTYPICFEATURE$, and @DISEASE$, along with rarer entities that have histologic overlap.	false
+6f8a034c051b4e3c55e54bb5ed89856f02dcb381	Ultrasonography evaluation of infants with @DISEASE$: In comparison with biliary atresia and neonatal @PHENOTYPICFEATURE$.	false
+ca7a40eda4fa8e82e5239cc57cb0a01e21a09dd3	The accompanying systemic anomalies included 9 cases of @PHENOTYPICFEATURE$, 5 of facial anomalies, and 3 of @DISEASE$.	false
+260f59bf37df535b487e94da0347056a9e32aa44	Exertional myalgia, @PHENOTYPICFEATURE$ and @DISEASE$ in a patient with muscle lactate dehydrogenase (LDH) deficiency.	false
+59564273657cf59d76b8b7d00560764f7d8adc3d	Seventy per cent of patients presented with characteristic skin lesions on the trunk or extremities, consisting of deep red to violaceous infiltrated plaques, nodules or @PHENOTYPICFEATURE$ frequently surrounded by diffuse or @DISEASE$.	false
+4aa77abe2772b474fe524f87c83da5a64cfaf929	Hashimoto @PHENOTYPICFEATURE$, @DISEASE$, or nonvasculitic autoimmune meningoencephalitis?	false
+a36e6a3d0c04f6e6cfeea60dbdb82fd19e3f39cd	Apart from Rasmussen encephalitis, other immune-mediated brain disorders have emerged that are frequently associated with recurrent epileptic seizures: (1) limbic encephalitis, (2) anti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis, and (3) @DISEASE$ (SREAT, formerly called Hashimoto @PHENOTYPICFEATURE$).	false
+23e0f81cbf43f4f18607073aab5dccab218a3a14	Apart from Rasmussen encephalitis, other immune-mediated brain disorders have emerged that are frequently associated with recurrent @PHENOTYPICFEATURE$: (1) limbic encephalitis, (2) anti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis, and (3) @DISEASE$ (SREAT, formerly called Hashimoto encephalopathy).	false
+0e9f9868524955df4fe8233df94e402ee430c4ff	@DISEASE$ was diagnosed after 26?years since the onset of @PHENOTYPICFEATURE$.	false
+a2bb57d10d66ea09f155d5c9cd994f1b11bf8dcd	Ocular flutter and @PHENOTYPICFEATURE$ without cognitive impairment associated with @DISEASE$ (SREAT).	false
+fb97c005524b1b2e253586cf66a67d0b9380040e	We report a case of a 60-year-old woman with a history of intractable @PHENOTYPICFEATURE$ and isolated delusional psychosis who was later diagnosed with @DISEASE$.	false
+dc7dbc47ada26aab4686e26e68ed7227492ab498	@DISEASE$ (SREAT), often termed Hashimoto @PHENOTYPICFEATURE$, is a poorly understood and often misdiagnosed entity.	false
+5407886998edf2aeaf79e924094e894ef9c5352e	Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary @PHENOTYPICFEATURE$-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and @DISEASE$.	false
+d668db23b5cb96cf3cc584538445d4ceeca85b8b	Germline PTEN (Phosphatase and TENsin homologue deleted on chromosome TEN) mutations predispose to phenotypically diverse disorders that share several overlapping clinical features: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and @DISEASE$, collectively classified as PTEN @PHENOTYPICFEATURE$ tumour syndrome (PHTS).	false
+7fd964d5d0f5ab22fb755e006a89c5d9be3ec0cc	Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the @DISEASE$, disorder of sex development with gonadoblastoma, @PHENOTYPICFEATURE$ and epilepsy.	false
+832dcb43c40ebbda9697b56438e0b1f231abd5ec	In addition to the clinical features characteristic of trisomy @DISEASE$, the patient had @PHENOTYPICFEATURE$ type A2, bilateral hydronephrosis, palatal anomaly, retrognathia, and laryngeal hypotonia, which are likely to be attributed to 22q11.2 deletion.	false
+d9e7f168e24eed58ddc4c36fc46de903836970c0	Pervasive developmental disorders without mental retardation is a new clinical category including high-functioning autism, @DISEASE$ and @PHENOTYPICFEATURE$ non otherwise specified.	false
+d87a7c1ef0a25d8644fd7e70955c8787fe76a049	@PHENOTYPICFEATURE$ without mental retardation is a new clinical category including high-functioning autism, @DISEASE$ and pervasive developmental disorder non otherwise specified.	false
+97c242bdbc8111caff51bab2314928044ae64c39	Differentiating autism and @DISEASE$ on the basis of @PHENOTYPICFEATURE$ or impairment.	false
+c5c33e566bca45a4c82712ec17b6f3e70cd97cbd	@DISEASE$ (AS) is characterized by social deficits and restricted interests in the absence of mental retardation and @PHENOTYPICFEATURE$.	false
+6eed651da8bd6cbc41bb72723b18b3fc6971b978	@DISEASE$ (AS) is a @PHENOTYPICFEATURE$ widely regarded as a mild variant of autism.	false
+06ea225525f32f84871be6109715bce95564142b	It has been suggested that he had @DISEASE$ and a possible @PHENOTYPICFEATURE$ (mannerisms).	false
+c179c8c721d27660dbcad3be1cab8294e3fb504f	@DISEASE$ (AS) and high-functioning autism (HFA) are @PHENOTYPICFEATURE$ (PDD) in individuals of normal intelligence.	false
+66782d2ca8253459e17ec97e36105b1fc71cfe16	@DISEASE$ (AS) is a @PHENOTYPICFEATURE$ generally regarded as a variant of autism.	false
+94e9c4949c5a0b59f75cf76ed78dc97378272acb	@DISEASE$ is a @PHENOTYPICFEATURE$ included lately in the international classifications.	false
+bc79d4323360004919e176a32f2bd38ca052948b	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by social impairments, restricted interests, and repetitive behaviours.	false
+da1d0860c0cadf2ad0d0863d2342be40209b1665	To examine the relationship between obstetric risk factors and childhood autism, @DISEASE$, and other @PHENOTYPICFEATURE$ (PDDs).	false
+c2d355a1c640df6226f0c633960a78ae66f6ca69	Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, @DISEASE$, lung hypoplasia, and @PHENOTYPICFEATURE$.	false
+24b04b08384ec65e9555bd08cbd58e9af004edbb	Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and @PHENOTYPICFEATURE$ (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, @DISEASE$, and various other abnormalities.	false
+404d5c7c1361918202d526646a200955713e4c1f	The differential diagnosis includes @PHENOTYPICFEATURE$, primary hyperaldosteronism, @DISEASE$, Liddle syndrome and other diseases that cause hypokalemia.	false
+66d25eec06794391b9df1a0a147502e7c53e834d	Histological and ultrastructural studies of the human juxtaglomerular apparatus in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+36557f395604e9b55efe2c7908eef848af18a37b	Gitelman's syndrome, or congenital hypokalemic hypomagnesemic hypocalciuria with metabolic alkalosis, is widely described as a benign or milder variant of @DISEASE$ and most commonly presents with transient periods of weakness and fatigue, presyncope, @PHENOTYPICFEATURE$, ataxia, and blurred vision, though aborted sudden cardiac death has also been rarely reported.	false
+5a6df16b7bf8783a64b0e7317c10b3cab11f9b14	Aminoglycosides can result in renal tubular dysfunction leading to Fanconi syndrome, @DISEASE$, and distal tubular @PHENOTYPICFEATURE$.	false
+0d94edcd12703da5e6cd6dc41a22d718b92075fa	[Hypochloremic and @DISEASE$, atypical @PHENOTYPICFEATURE$ in a case of diabetic acidosis].	false
+b69e556f1b6bd53e293ce21a12b7fb3bfa9847ed	Renal sodium handling study in an atypical case of @DISEASE$ associated with mitochondriopathy and sensorineural @PHENOTYPICFEATURE$.	false
+848de650e00e1e539daf033aaa711eb323fd7ace	It is usually a distal tubular @PHENOTYPICFEATURE$, but Fanconi syndrome or @DISEASE$ has been exceptionally reported.	false
+b20f21c6a4e40f2c855edb07a819d49950737487	Here we review genetic and biochemical mechanisms of urolithiasis, with an emphasis on its hereditary forms, including fermentopathies (primary hyperoxaluria, adenine phosphorobosyltransferase deficiency, phosphoribosyl-pyrophosphate-synthetase deficiency, xanthinuria, Lesch-Nihan syndrome) and these caused by membrane transport alterations (Dent's disease, familial hypomagnesia with hypercalciuria and nephrocalcinosis, hypophosphatemic urolithiasis, distal tubular @PHENOTYPICFEATURE$, cystinuria, @DISEASE$).	false
+9c9f971ad19521efae8b103fc11e759742d3f198	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in @DISEASE$ and idiopathic edema, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with @PHENOTYPICFEATURE$ or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+745214d855d6dedebe9510bb04a4f4fd897c213b	We present an atypical case of mitochondriopathy combined with tubule functional disturbances compatible with @DISEASE$ and definitive sensorineural @PHENOTYPICFEATURE$.	false
+f10eaee9343312786b258c4415d6c71a3f29c49f	@PHENOTYPICFEATURE$ is a known association in @DISEASE$: a condition that includes other midline facial defects.	false
+1f930d71e1a0b5b446daf5a6d177cc2fce5121bd	Overweight and @PHENOTYPICFEATURE$ prevalence in males in @DISEASE$ was 16.4% (n = 409) and in PHP, 11.1% (n = 829), PR = 1.48 (95% CI: 1.10-1.98)	false
+c7c78ef3c565855482dc61dd80018a5747e8b9a8	Nausea, dizziness and @PHENOTYPICFEATURE$ were extremely rare (< 1%).--The "atraumatic" puncture needle reduces the frequency and the degree of @DISEASE$ to the minimum and makes the lumbar puncture procedure possible on an outpatient basis.	false
+ab3344f534d88b3f0d74280dafb49c44aa5b2b1f	Routine echo may detect other clinically important @PHENOTYPICFEATURE$, but its role in @DISEASE$ remains uncertain.	false
+19fb6b0efe0514b4528537b417834e7c3e49d89f	The results of this study suggest that administration of the ESAS and @DISEASE$ provides additional information on symptom severity and functional decline for patients with @PHENOTYPICFEATURE$.	false
+ad57bdd212b9dd78b437b89a51d563d24c8bffed	In patients with @DISEASE$, we identified three patterns of sleep disturbances--@PHENOTYPICFEATURE$, hypoventilation, and a combination of both.	false
+5e0727ccf21b506960c73b65a298e36ca781c6bb	Six of them had associated other @PHENOTYPICFEATURE$; two had severe multiple peripheral pulmonary stenoses (@DISEASE$) and one each had ventricular septal defect (VSD), valvular pulmonary stenosis, coarctation of aorta with patent ductus arteriosus (PDA), total anomalous pulmonary venous return (TAPVR) with pulmonary branch stenosis, PPS and left lower pulmonary venous obstruction.	false
+61b3baab23a6778fba37b1edcf0e84e11e091933	Six of them had associated other @PHENOTYPICFEATURE$; two had severe multiple peripheral pulmonary stenoses (PPS) and one each had ventricular septal defect (VSD), valvular pulmonary stenosis, coarctation of aorta with patent ductus arteriosus (PDA), total anomalous pulmonary venous return (TAPVR) with pulmonary branch stenosis, @DISEASE$ and left lower pulmonary venous obstruction.	false
+f2784dfb02e327d87d8f31a65a14add807adfba0	Furthermore, we sought to determine whether the @DISEASE$ or the ESAS provided additional information on quality of life, symptom severity, or prognosis above that provided by the traditional scores for patients with @PHENOTYPICFEATURE$.	false
+e917afb0807bb15d81ccf5b1234339a4249ba116	Nonetheless, babies with @DISEASE$ may present with neurological symptoms such as seizures, spastic diplegia, @PHENOTYPICFEATURE$, or hearing loss as well as a life-threatening neurosurgical emergency arising due to raised intracranial pressure.	false
+fcd8770d2b4601a266c1f5a92a529bfa1ee98f6d	Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (@DISEASE$), brachytelephalangia, inner ear @PHENOTYPICFEATURE$, and abnormal cartilage ossification or calcification.	false
+c37629b4f9fa8598f3a8216060050a831b97e7d0	Mutations in connexin 26 are linked to diseases including @DISEASE$, @PHENOTYPICFEATURE$-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome.	false
+c1288ad8fbe39473db80b4e6023b1a10c0bd94ea	All patients presented typical @DISEASE$ syndrome features, of intractable diarrhoea in infancy requiring parenteral nutrition, a facial dysmorphism with @PHENOTYPICFEATURE$, and immunological disorders.	false
+c09c041560fc922d279e3ec351f6235358c1a14b	DISEASE NAME AND SYNONYMS: @DISEASE$ - Phenotypic diarrhea - Tricho-hepato-enteric syndrome - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - Neonatal hemochromatosis phenotype with intractable diarrhea and @PHENOTYPICFEATURE$ - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.	false
+d0a6ee2f13305065cb4e358f7a0f1b475fbf87a2	DISEASE NAME AND SYNONYMS: Syndromic diarrhea - Phenotypic diarrhea - @DISEASE$ - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - Neonatal hemochromatosis phenotype with intractable diarrhea and @PHENOTYPICFEATURE$ - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.	false
+805013c7921edd0a41e99535be39e2cf3be061ae	DISEASE NAME AND SYNONYMS: Syndromic diarrhea - @DISEASE$ - Tricho-hepato-enteric syndrome - Intractable diarrhea of infancy with facial dysmorphism - Trichorrhexis nodosa and cirrhosis - Neonatal hemochromatosis phenotype with intractable diarrhea and @PHENOTYPICFEATURE$ - Intractable infant diarrhea associated with phenotypic abnormalities and immune deficiency.	false
+aa0f2c56a0a92bd1767cee1a4f3fcb0961a17af3	Syndromic diarrhea/tricho-hepato-enteric syndrome (@DISEASE$) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, @PHENOTYPICFEATURE$, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities.	false
+aa7102fc2b5059487886b6332bfdbf90feb921e7	@DISEASE$ (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, @PHENOTYPICFEATURE$, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities.	false
+1b41bb727ceddaee65ee7f74960ce4767ebd5a93	@DISEASE$ (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, @PHENOTYPICFEATURE$, and high mortality in early childhood due to severe infection or liver cirrhosis.	false
+19c9261b1bb1e7cd250f8f50e06dca3a6a18ca56	@DISEASE$: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and @PHENOTYPICFEATURE$.	false
+6b32a926e2db6902d1e24ad1cd006ebb7587a208	@DISEASE$ (THES) is characterized by chronic diarrhea, dysmorphic facies and @PHENOTYPICFEATURE$.	false
+8d3081b89682b1f4b871baad86ca29a91ef448e9	Associations between the radiographic @DISEASE$ using two definitions (i.e., osteophytes, disc space narrowing) versus the presence of LBP, LBP?>?3 months, severe LBP and neuropathic @PHENOTYPICFEATURE$, were analyzed with logistic regression models.	false
+0b4199598c061a24c6052faaac49fd55aad1cb8c	Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+c3f11085fba89880ff3ec2267e5d7404c766645a	Here, we present the first case report of an anaplastic astrocytoma in a teenager with @DISEASE$, with a discussion of imaging findings and the use of magnetic resonance spectroscopy (MRS) to help distinguish between @PHENOTYPICFEATURE$ and metabolic changes.	false
+96ce6afe40ea6e1bf0be4ca13106aea79a7ccc43	The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, @PHENOTYPICFEATURE$ (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., @DISEASE$, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism.	false
+1b69d74949bff238c6ec5ec49e50c7f354046742	Fanconi anemia, @DISEASE$ and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/@PHENOTYPICFEATURE$ (MCA/MR) syndrome.	false
+b1ac8e2f185fd6beff540a8852a5fccfd1dd83ae	We describe two siblings with a Sengers-like syndrome, who presented with congenital hypertrophic cardiomyopathy, infantile @PHENOTYPICFEATURE$, @DISEASE$, lactic acidosis and normal mental development.	false
+5d4204488cf52d6c43ec56b788903b820e29a5b1	A 49-year-old man with @DISEASE$ was anaesthetized successfully for @PHENOTYPICFEATURE$ extraction using propofol and alfentanil infusions.	false
+a0ea66b07b7b5a5b284126e2edc65152bce15a9f	Clinical observation of @PHENOTYPICFEATURE$ in diseases such as cystic fibrosis, atopic dermatitis, Alzheimer's disease, and @DISEASE$ have led to hypotheses of formation.	false
+db6ec2f20f6a02a2d1afcfceca2204df0728027b	We describe a 16-year-old girl with mental retardation, myoclonic epilepsy, ataxia, @DISEASE$, @PHENOTYPICFEATURE$, lactic acidosis, and MRI evidence of diffuse subcortical laminar heterotopia and agyria/pachygyria.	false
+1b38d62047023540303db9e2379b2dd6cae73f7c	Familial @DISEASE$ with @PHENOTYPICFEATURE$.	false
+a18a12bb2aefaf3728b24682565c28b43572c99c	Fatal neonatal cardiomyopathy associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+882397f62f55d29a041fac454531584a9d703709	Congenital hypertrophic cardiomyopathy, @PHENOTYPICFEATURE$, @DISEASE$ and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.	false
+b13e574be0f5fd8f4249c214c3a388d7484f1768	We studied a large family with a dominantly inherited @DISEASE$ characterized by progressive external ophthalmoplegia, dysphagia, @PHENOTYPICFEATURE$, lactic acidosis, exercise intolerance, and early death.	false
+7b363832a9a3587a36a9de50b7bc8b842fd5dc51	@PHENOTYPICFEATURE$ and ophthalmoplegia were most characteristically associated with familial olivopontocerebellar atrophy and @DISEASE$.	false
+64864abf5a373634438eab96bf6ca1cec678453e	Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, @PHENOTYPICFEATURE$ and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with @DISEASE$ 13 years later.	false
+d8419fa9207c1ea08e4a82572936e761bca456a2	Effectiveness of switching from oral ziprasidone to risperidone in a patient with comorbid autistic disorder, profound @PHENOTYPICFEATURE$, @DISEASE$, and exacerbation of psychosis.	false
+96009beca232c4c13a9bcab73bb3899e03e2cd41	The etiologies of early onset nephrocalcinosis in consanguineous families include five major inherited recessive disorders: primary hyperoxaluria (PH), familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (FHHNC), distal renal tubular acidosis (dRTA), @DISEASE$ (HHRH) and antenatal Bartter syndrome.	false
+d0fbc8ef9609fc5dc1057ca7b5f301ac648438f6	Serum @PHENOTYPICFEATURE$ markers in patients with metastatic @DISEASE$.	false
+f9116a8c880857efb1c85af979bdc45a8ff8d5b8	Nephroblastoma-like @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+11a518574f4df67539448ac878e8b94958d9911d	Transient @PHENOTYPICFEATURE$ marker elevation following chemotherapy for @DISEASE$.	false
+01fbf7c1e404f9bf8e8d5fabcaa288896f5c4619	@DISEASE$ are rare @PHENOTYPICFEATURE$ of the young adult.	false
+ca5e6bff9ece718d3204573d4581991035804afa	These @PHENOTYPICFEATURE$ are rarely associated with metachronous primary @DISEASE$.	false
+6310ceca0d9b4b3d9b8cb6275d0c6793d4f18442	Prevalence of contralateral testicular intraepithelial @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c5c57e63e2b3f476eab50624cfac5f29c805e009	The phenotype of @DISEASE$, developmental @PHENOTYPICFEATURE$, and urethral hypospadias constitutes a discrete syndrome caused by a gene distinct from WT1.	false
+f5019c3f77b887c322612f7a640d325ac178cd6b	Value of @PHENOTYPICFEATURE$ markers in nonseminomatous @DISEASE$.	false
+e1f31a81949ae07cfeb079250f2478245dc45021	@DISEASE$ constitute a model for curable @PHENOTYPICFEATURE$.	false
+ceeb32234ee7c98aa3363ef48b77f103c2b9d67f	Management of contralateral testicular intraepithelial @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+f9f4116a596caed245e7ed0ac9de04bf39992534	@DISEASE$ (OP) is a?distinct type of @PHENOTYPICFEATURE$, because it can also be seen in association with several conditions such as infections, drugs, and connective tissue diseases.	false
+6f7fa380b872c492e4afff6ee99f9ec86761b05a	These pulmonary complications may be infectious (caused by virus, bacteria, fungi, or protozoa) or noninfectious (e.g., fluid overload, @PHENOTYPICFEATURE$, transfusion reactions like transfusion associated lung injury and transfusion-associated circulatory overload, drug reactions, engraftment syndrome, idiopathic pneumonia syndrome, diffuse alveolar hemorrhage, cryptogenic organizing pneumonia, and @DISEASE$ syndrome).	false
+21208ec146d8096c7af97871a3dc158f566785b3	The leading causes of death after the perioperative period were infection (36.7%), @DISEASE$ syndrome (23.3%) and @PHENOTYPICFEATURE$ (13.3%).	false
+d2fe6de2d1ca8c3f435d399cbc2d9d2fc094bd1a	Similarly, heterozygous missense mutations of TRPV4 cause a spectrum of @PHENOTYPICFEATURE$, including @DISEASE$, congenital spinal muscular atrophy, and scapuloperoneal spinal muscular atrophy.	false
+68f4db83c4b70e7a42ec78080b20b00f00a3eed2	Acute @PHENOTYPICFEATURE$ lysis syndrome: a case in @DISEASE$.	false
+4a84a2ca8bd186ce57edb60772346d87bb9232a0	[Mediastinal @DISEASE$ of pseudo @PHENOTYPICFEATURE$ appearance].	false
+cb2721bd3fc4dcfe232b5c7b40a79c9fda5b4d04	Solitary amyloid @PHENOTYPICFEATURE$ of the lung: a rare manifestation of @DISEASE$.	false
+9cb083dade951643d156bb42c4541d375d8088ea	@DISEASE$ with a localized B cell @PHENOTYPICFEATURE$.	false
+500d06b12e95b91c5aac68cc51185e6ab3db37ff	Fixed digital @PHENOTYPICFEATURE$ revealing @DISEASE$.	false
+cc5000728042ce00b25e58cb8acddf234d3e1b77	New indications have emerged such as autoimmune disorders and @DISEASE$ for autologous, and solid @PHENOTYPICFEATURE$ for allogeneic transplants.	false
+a73b9413e984708056bc545f50b0563d9717ee09	Daratumumab, an anti-CD38 antibody, is effective in @DISEASE$ with low @PHENOTYPICFEATURE$ burden.	false
+a2e505713ba9905b4a4b264ab1e092d1db2ca05f	Perforation and @PHENOTYPICFEATURE$ formation of the intestine in @DISEASE$.	false
+4064fe4b9cf4ac1c9bbdb778c2c533fcc237f527	New indications have emerged, such as autoimmune disorders and @DISEASE$ for autologous, and solid @PHENOTYPICFEATURE$ for allogeneic transplants.	false
+500d06b12e95b91c5aac68cc51185e6ab3db37ff	Fixed digital @PHENOTYPICFEATURE$ revealing @DISEASE$.	false
+0cf1abaf841522bfdf675fc5f8820ac64f51ff78	The incorporation of 3H-uridine into the RNA was studied under normothermia 37 degrees C/120 min, hyperthermia 42.5 degrees/120 min, and both in combination with Actinomycin D by an autoradiographic in vitro method in 19 solid @PHENOTYPICFEATURE$ of children: 6 @DISEASE$ neuroblastomas, 4 osteogenic sarcomas, and 4 different tumors.	false
+065126592a7d31ee8ac3b017c2e9f836dbee6473	The incorporation of 3H-uridine into the RNA was studied under normothermia 37 degrees C/120 min, hyperthermia 42.5 degrees/120 min, and both in combination with Actinomycin D by an autoradiographic in vitro method in 19 solid tumors of children: 6 @DISEASE$ neuroblastomas, 4 osteogenic sarcomas, and 4 different @PHENOTYPICFEATURE$.	false
+1574792326d529eb4c4bcbc60a307bc365a22b90	Most @PHENOTYPICFEATURE$ had gastrin messenger ribonucleic acid (mRNA): 10 of 11 medulloblastomas, 5 of 5 central primitive neuroectodermal tumors, 11 of 11 Ewing sarcomas, 8 of 10 neuroblastomas, 4 of 4 @DISEASE$ of 5 rhabdomyosarcomas, and 10 of 10 leiomyosarcomas.	false
+4f67ee1c0752d6ca1638f2bc2f0a0235eedf0a49	The authors investigated the usefulness of CDUS in the detection of @PHENOTYPICFEATURE$ thrombus in 34 children who had malignant tumor (21 neuroblastomas, 2 @DISEASE$ hepatoblastomas, 2 rhabdomyosarcomas, and 4 others) who underwent CDUS between April 1992 and March 1995 in our department.	false
+3bf0f933e2cbad17f0233595aad32b47e90b9e2d	Mast cells are immune cells that are involved mainly in @DISEASE$, and they have been implicated in @PHENOTYPICFEATURE$ angiogenesis.	false
+faa007b8a9df7fb8f090c70336c1a49a39f5bef8	Harnessing engineered antibodies of the IgE class to combat malignancy: initial assessment of Fc?RI-mediated basophil activation by a @PHENOTYPICFEATURE$-specific IgE antibody to evaluate the risk of @DISEASE$.	false
+63fe2e15762034891ee952389cbcd63cd76b9596	So far, the @PHENOTYPICFEATURE$ models GAERS and WAG/Rij, audiogenic seizure models GEPR-3 and GEPR-9, generalized tonic-clonic seizure models IER, NER and WER, and @DISEASE$ related epileptic models TRM and SER have been established.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+606eabdce039e44560589d3ec5605dbf364dfff0	How do @DISEASE$ @PHENOTYPICFEATURE$ form?	false
+af64f928b80f00c7dda37b1f51776d4ab517250e	Late extraocular @PHENOTYPICFEATURE$ in @DISEASE$ survivors.	false
+260d453b53dfa6aac9d5f910a36261a34c92e6fd	Second primary @PHENOTYPICFEATURE$ following @DISEASE$.	false
+8da80ba902a4f97465fec0d94a82a04d7304be4e	[A paradoxic @PHENOTYPICFEATURE$: @DISEASE$].	false
+f2409236feab459fec04d2e2d3e06cde9d4efa30	Mortality from second @PHENOTYPICFEATURE$ among long-term survivors of @DISEASE$: a retrospective analysis of the Italian retinoblastoma registry.	false
+25da15867ab42ce751cfa37373e49b9c2515bea7	Mortality from second @PHENOTYPICFEATURE$ among long-term survivors of retinoblastoma: a retrospective analysis of the Italian @DISEASE$ registry.	false
+ea4c3b14b593e672b7187cc689101175148c812b	@DISEASE$ is a prototypic @PHENOTYPICFEATURE$.	false
+3ab9a393436e3dd09abddef793c72ce38cfe8534	Intraocular @PHENOTYPICFEATURE$ suppression of @DISEASE$ gene-reconstituted retinoblastoma cells.	false
+77baf287fcdb5e7b08d91beab41db766d4517914	Intraocular @PHENOTYPICFEATURE$ suppression of retinoblastoma gene-reconstituted @DISEASE$ cells.	false
+f7ccefc09233bfa81b5ca4a0a60598670a0fd3da	Synapse formation in @DISEASE$ @PHENOTYPICFEATURE$.	false
+d903e368f1165a0fb038a5ce7ac32955c23849e7	Management of @DISEASE$ with extraocular @PHENOTYPICFEATURE$ extension.	false
+d71c498a8ba174832515a031aeda8367e995f0d4	@DISEASE$-induced @PHENOTYPICFEATURE$.	false
+c89663bd124f0eac54b38326b3f1994c81f82fad	Cutaneous @PHENOTYPICFEATURE$ was evaluated 24h after exposure and the @DISEASE$ was calculated for each treatment.	false
+e16cbc485e83755a0bbbea068901f8a3be1dd1f9	Other forms of @DISEASE$ use were not consistently related to @PHENOTYPICFEATURE$.	false
+ff5ba6a13922ff7fe61c9afd4424e1ef0e3970d8	The following UV radiation dosages were applied as Day 1=1.0 MED, Day 2=0.5 @DISEASE$ and Day 3=0.5 MED for repeated UV radiation, of which the erythema and @PHENOTYPICFEATURE$ were recorded.	false
+d232c2be663c995f4c1c84daf72bbc83cc21c5d3	The following UV radiation dosages were applied as Day 1=1.0 @DISEASE$, Day 2=0.5 MED and Day 3=0.5 MED for repeated UV radiation, of which the erythema and @PHENOTYPICFEATURE$ were recorded.	false
+e987ff2c5c366b4b6edbf131b1f49dc079a306ff	The following UV radiation dosages were applied as Day 1=1.0 MED, Day 2=0.5 MED and Day 3=0.5 @DISEASE$ for repeated UV radiation, of which the erythema and @PHENOTYPICFEATURE$ were recorded.	false
+52076f12e9e63005b9d81517f697643010290caf	The dehiscence rate was highest with @PHENOTYPICFEATURE$, followed by adhesive otis @DISEASE$, chronic otis media and tympanosclerosis (p < 0.01).	false
+b08e37aab7f99cd30781b0553b562f275bc52d18	The dehiscence rate was highest with @PHENOTYPICFEATURE$, followed by adhesive otis media, chronic otis @DISEASE$ and tympanosclerosis (p < 0.01).	false
+e923402a5d3eedc3d744d4d5d4ab44c4ea50d0e8	@PHENOTYPICFEATURE$ @DISEASE$ to an intact tympanic membrane in 34 young children.	false
+e6251dcfe22c66745a50691f0e55d92b08b81a24	A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild @PHENOTYPICFEATURE$, accelerated carpal ossification, and @DISEASE$ in two Brazilian sisters.	false
+a2c066686f9784253069020fd920b29f15941da9	The minimal erythema dose (@DISEASE$) was determined by visual assessment, and skin @PHENOTYPICFEATURE$ was evaluated photometrically.	false
+8a96dd034a27ae9ab7c98aef208f40d9659d687d	This study investigated the relation between preschoolers' mobile electronic device (@DISEASE$) use and @PHENOTYPICFEATURE$.	false
+7c8725990093f5a1f0962d672140b918af1d0c8c	@PHENOTYPICFEATURE$ was induced by exposure to three times the minimum erythema dose (@DISEASE$) of UVB.	false
+633ae5734a677b51800f1cd682290d8956b99ece	@DISEASE$ @PHENOTYPICFEATURE$ cell lines with a defective expression of the class II transactivator.	false
+00fadbad3a3a298b89a553d927ea41b00cf9b1f2	@DISEASE$ is considered severe when it involves severe gestational hypertension and/or proteinuria ? 5 g/day, or when it is associated with @PHENOTYPICFEATURE$, oliguria, thrombocytopenia, elevation of liver enzymes, or involvement of the central nervous system.	false
+5dbef4ef076b4ac5ce47b7f29d6cf1dc31d05033	@DISEASE$ as a disease including hypertension, proteinuria and generalized edema is often associted with @PHENOTYPICFEATURE$ occuring most commonly at the end of the second trimenon of pregnancy.	false
+aba9956f65a91023251ca948ae570529794ff69a	@DISEASE$ is defined as hypertension and either proteinuria or thrombocytopenia, renal insufficiency, impaired liver function, @PHENOTYPICFEATURE$, or cerebral or visual symptoms.	false
+05e556a3e78a77ec5c0a59573d92dd33e2b10fca	@DISEASE$ is defined as hypertension in association with proteinuria, thrombocytopenia, impaired liver function, renal insufficiency, @PHENOTYPICFEATURE$, or new-onset cerebral or visual disturbances.	false
+e7ca3bf3dfea87248970d9ddf4e196296794d2c7	@PHENOTYPICFEATURE$ in severe @DISEASE$: analysis of thirty-seven consecutive cases.	false
+8b98116e1e31083cd853afd6355f694c281cbf84	@PHENOTYPICFEATURE$ is infrequent in severe @DISEASE$ without associated medical, surgical and obstetric complications.	false
+53cf974a87de5a684fdecbd1ee5e78acc7145a19	The purpose of this review is to examine the pathophysiology of commonly encountered hypertensive crises, including stroke, hypertensive encephalopathy, aortic dissection, acute @PHENOTYPICFEATURE$, and @DISEASE$ and to provide a rational approach to their treatment based upon relevant pathophysiologic and pharmacologic principles.	false
+c0c95819c349a2ade460768e4e0859e8ca0b5108	We report a case of poorly controlled hyperthyroidism associated with @PHENOTYPICFEATURE$, where patient management was directed at a diagnosis of @DISEASE$.	false
+13e4eba834994f7222df1dcc47e9c84d2ed8cd4c	@DISEASE$ is one of the most serious complications during pregnancy, defined as development of hypertension during late pregnancy affecting other organ systems (proteinuria, thrombocytopenia, renal insufficiency, liver involvement, cerebral symptoms or @PHENOTYPICFEATURE$).	false
+799ea1db4a8cd7618f82dab0ee2b259cc1d5218b	The patient was diagnosed with @DISEASE$ at age 4months due to recurrent soft tissue bleeding episodes, and he was also diagnosed with Hermansky-Pudlak syndrome at 32years of age due to unexplained oculocutaneous @PHENOTYPICFEATURE$.	false
+423c49ff0f0fe81ebff260e7c9ac823fb24e12c5	We present a 70-year-old male patient of Greek origin with choreatic movements of the tongue and face, lower limb muscle weakness, @PHENOTYPICFEATURE$, elevated creatinephosphokinase (CPK), acanthocytosis and haemolysis in the absence of Kell RBC antigens with an additional @DISEASE$.	false
+3bc6e2d30a4fbcb30cf4ba8306083b8268d5c8aa	Identification of a novel mutation in HPS6 in a patient with @DISEASE$ and oculocutaneous @PHENOTYPICFEATURE$.	false
+ca73d689905a44aa265c7331405fbc751f9eb03c	We report a novel mutation in HPS6 in a Caucasian man with @DISEASE$ and oculocutaneous @PHENOTYPICFEATURE$.	false
+d9eb765d55d6bf26d280858d14a03f0ec110eee8	We report the case of a 36-year-old @DISEASE$ who suffered from @PHENOTYPICFEATURE$ and underwent tympanoplasty.	false
+c0a44d1ecdd942b028f7ada79362c1733c74c554	The aim of the study was evaluation of kind and frequency of @PHENOTYPICFEATURE$ in patients with familial adenomatous polyposis (FAP) and Lynch syndrome (@DISEASE$), and analysis of dento-osseus abnormalities on panoramic views.	false
+1069d5755a43eff44674bdf7feda40309bf9ed67	Targeted next-generation sequencing helps to decipher the genetic and phenotypic @PHENOTYPICFEATURE$ of @DISEASE$.	false
+ab5068aa3e662bd37545ed2c6fb3119c2996c87f	The patient also presented with occasional double vision, ptosis, renal insufficiency, bilateral @PHENOTYPICFEATURE$, hypertriglyceridemia, arterial hypertension, and @DISEASE$.	false
+6b6881819c032c7d635e5a252f3fa129dce04b64	The patient had hyperCKemia, @DISEASE$, no muscle weakness and slight @PHENOTYPICFEATURE$.	false
+e2338a61eda513719f32e29e7e46b09e53de9444	These included: anorectal atresia/stenosis (FR = 2.81; P = 0.03), hallucal @PHENOTYPICFEATURE$ (FR = 3.62; P = 0.002), heterotaxy (FR = 5.70; P = 0.049), @DISEASE$ (HCM) (FR = 61.60;	false
+28a8d142b46bf4845a463b35419c3d0f56d9e2b8	Unusual presentation of acute pulmonary hypertension in a patient with bilateral @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f5ba4e580ee299402e5a6d0c8e13232987865428	A 74-year-old woman with diabetes type II, @DISEASE$, presented with gross hematuria and @PHENOTYPICFEATURE$.	false
+f9a1cca9849befce17a16e10544292ffd5ba0fcc	In a 67?year-old male with epilepsy, metabolic myopathy and @PHENOTYPICFEATURE$ @DISEASE$ was diagnosed by echocardiography.	false
+6c6167a50bfdc3ed6ee10e72264b08bb161efdc0	The syndrome is manifested by proximal muscle weakness, @DISEASE$, probable @PHENOTYPICFEATURE$, and possible liver involvement.	false
+d5a88538b0245590eaefb38cc269020221779f8d	Friedreich's ataxia (FRDA) is a neuro-degenerative disease causing limb and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+256e0fb147d60327f83c015ec13edc632218ecf1	We describe a new Italian case with persistent hyperCKemia, exercise intolerance and @DISEASE$ but with no muscle weakness or @PHENOTYPICFEATURE$.	false
+9624942fbc8bd31bfcaac00403747c873bb2b9a2	@DISEASE$ is associated with @PHENOTYPICFEATURE$.	false
+ccfab1794b459d7f925b4d4c5cad467a053145bb	He described different sequelae, including neuropathy (in which the paresis began at the most distant parts of the limbs), dementia, suppression of the immune system and @DISEASE$ (considering the typical features as proneness to diseases, mental retardation, hyperactivity, @PHENOTYPICFEATURE$, incomplete growth).	false
+51a4b1b9f8e86add16b04aefcc45c806be6b5b38	Ethanol has a selective cytotoxic dose-dependent effect on the VCG at GD 12.5 suggesting that loss of VCG neurons may contribute to hearing and /or @PHENOTYPICFEATURE$ in @DISEASE$ children.	false
+cc19835a57e0227380f4de05ccd40d545182e92f	@DISEASE$, which combines @PHENOTYPICFEATURE$, growth retardation and intellectual disability, occurs in about 5% of children who are regularly exposed to at least five standard units per day (about 50 g of alcohol per day).	false
+4ba96b72a0d8dba71d6fac46ee478d82790f00b0	Frequent alcohol drinking during pregnancy may result in @PHENOTYPICFEATURE$, growth retardation and central nervous system deficits in infants ranging from Fetal Alcohol Effects (FAE) to @DISEASE$ (FAS).	false
+077e71e4e47c8ff4718044e3fdee470fa35c6649	@DISEASE$ (FAS) is mainly characterized by pre- and postnatal stunted growth, neurocognitive disorders, and @PHENOTYPICFEATURE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+af704b88f1dda3e93bff8765cff1db8d1c0f32f9	In contrast, hearing loss was documented in the clinical records of 40% of children with @DISEASE$ (FAS; a diagnosis on the fetal alcohol spectrum characterized by central nervous system dysfunction, @PHENOTYPICFEATURE$, and growth deficiency), 16-fold more prevalent than for those with less severe FASDs (2.4%).	false
+7b8c75a9223936cfe2fd2e465f1a200213fbb4d9	The leading diagnoses in children with WHO-defined childhood @PHENOTYPICFEATURE$ were non-@DISEASE$, cerebral visual impairment and retinopathy of prematurity.	false
+5b33fd600afd939aa67c712949c40710cbc2958a	The clinical features resembled the @DISEASE$ (Glass syndrome), including @PHENOTYPICFEATURE$, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay.	false
+d75c0974fc79564c9f86bb13ad31a4d97860b354	@PHENOTYPICFEATURE$ heart failure masquerading as @DISEASE$.	false
+3d70f0587316f0e8fb1425146df0b1b80fac43f3	@PHENOTYPICFEATURE$ abnormalities, as well as viral infection and genetic abnormalities, appear to be major predisposing factors for @DISEASE$ (DCM).	false
+117897b6fc0c79b001bd69eff2356264a0937628	The major causes of HF were ischemic heart disease, hypertensive @PHENOTYPICFEATURE$, valvular heart disease, and @DISEASE$.	false
+b70b5ef6c5ab2a1c144073ff3461f8fd10a1e54e	Bovine @DISEASE$ (BDCMP) is a severe and terminal @PHENOTYPICFEATURE$ observed in Holstein-Friesian cattle over the last 30 years.	false
+89160a4eb1f8e8f186c304dca53bd4a5ccf15707	Severe @DISEASE$ is an extremely rare complication in neonatal @PHENOTYPICFEATURE$ and often results in high morbidity and mortality.	false
+4030621da1765c09c5fa648c5e82c20ce9c3eafa	X-linked @DISEASE$ with neutropenia, @PHENOTYPICFEATURE$, and 3-methylglutaconic aciduria.	false
+e58b11805f8d92792669d7d10247e0d2dbfd3fa2	Successful treatment with an implantable cardioverter defibrillator for spontaneous @PHENOTYPICFEATURE$ in @DISEASE$ with very high defibrillation thresholds.	false
+840e65bc8e23c40daa9586f726b8ed9c488f8208	It is characterized by hypotonia, @DISEASE$, neutropenia, @PHENOTYPICFEATURE$, and 3-methylglutaconic aciduria.	false
+4aefe68ca2810006216efccaef30716621ef2ccc	Electrophysiologic studies in 64 patients with idiopathic @DISEASE$ who had sustained ventricular tachycardia or @PHENOTYPICFEATURE$ were performed.	false
+5752d1c70a24f97d59b5b9cb3a90356a1261a3db	@DISEASE$ and @PHENOTYPICFEATURE$ were detected in the third trimester of an initially uncomplicated pregnancy.	false
+0098c20ae7e7c724d9c96ba26f889e95ff21c7f5	Although geared for research, diagnostic criteria have been refined over the past several years and can nevertheless aid the clinician with the diagnosis of disorders such as mild cognitive impairment, Alzheimer disease, frontotemporal dementia, dementia with Lewy bodies, the primary progressive aphasias, corticobasal syndrome, vascular @PHENOTYPICFEATURE$, and @DISEASE$.	false
+89afccbc42fa759ba2727c6abbb0a51c6ead4d95	Although geared for research, diagnostic criteria have been refined over the past several years and can nevertheless aid the clinician with the diagnosis of disorders such as mild @PHENOTYPICFEATURE$, Alzheimer disease, frontotemporal dementia, dementia with Lewy bodies, the primary progressive aphasias, corticobasal syndrome, vascular cognitive impairment, and @DISEASE$.	false
+e0101bf7e823299c1c7873a6744d824629b8422e	@DISEASE$ (PCA) is a degenerative disease characterized by progressive visual agnosia with posterior @PHENOTYPICFEATURE$.	false
+95934dcc08254a93ff961aa0d2bccb235a30d975	Our study therefore aimed to analyze the clinical manifestations and patterns of @PHENOTYPICFEATURE$, amyloid beta deposition and regional glucose metabolism in Chinese @DISEASE$ patients, comparing them directly with those of typical Alzheimer's disease (TAD).	false
+a08c107b72e9fbb3a4cfe99b3ba7e285732e966f	@DISEASE$ (PCA) is a rare neurodegenerative disorder that has @PHENOTYPICFEATURE$ in the parietal, occipital, or occipitotemporal cortices and is characterized by visuospatial and visuoperceptual impairments.	false
+a367503d98103672d40537215d6d0845f0b3934e	The aim of this study was to compare patterns of @PHENOTYPICFEATURE$ on MRI, and neurochemistry on magnetic resonance spectroscopy (MRS), in patients with @DISEASE$ (PCA) and typical Alzheimer's disease (AD).	false
+c46e4c9cf06943be463f755edd2e64a55690697f	While it is easy to differentiate @DISEASE$ from Alzheimer's disease, some @PHENOTYPICFEATURE$ are common with those of Lewy body disease and corticobasal degeneration, which results in diagnostic mistakes.	false
+a0e21afa6f569c07419de79ffa89bcc772d45af4	We report three patients with severe pontocerebellar atrophy (@DISEASE$) associated with a variable degree of @PHENOTYPICFEATURE$.	false
+dfc1937d5d850cf2478ac18d9f8cd54c741d09ee	PVB resulted in a significantly more postoperative analgesia, maintained hemodynamic, more significant reduction in @PHENOTYPICFEATURE$, and shorter hospital stay compared with @DISEASE$ patients.	false
+ab016c9b714455f1edfd8c06a28589e777595725	TEA group was associated with lower risk in @PHENOTYPICFEATURE$, but with similar risk in urinary retention, urinary tract infection, wound infection, ileus and anastomotic leakage compared with @DISEASE$ group.	false
+7df8ccf255612c8b4160e0e1e43192258aaee225	The condition of progressive visual loss, including visual agnosia, and posterior @PHENOTYPICFEATURE$ was named @DISEASE$ (PCA) by Benson et al. (1988).	false
+7be66c98e1fbe8b6cbd1d76c4a353a18d4a17623	Autosomal recessive ectodermal dysplasia, @DISEASE$, @PHENOTYPICFEATURE$, and syndactyly: the Zlotogora-Ogur syndrome.	false
+826f9367bb21cbb4fc77b412ded5a1caaef3108e	Autosomal recessive ectodermal dysplasia, @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$: the Zlotogora-Ogur syndrome.	false
+7619faf466373776878c189f754c12f00607c495	A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with @DISEASE$, agenesis of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+28f740a8800e99038587e40d31ec303a733a5981	A family in which an intestitial deletion of the X chromosome, del(X)(q13q21.3), is segregating was ascertained through a boy with @DISEASE$, @PHENOTYPICFEATURE$, and severe mental retardation.	false
+2dce95b81c85d1b71fdc2894898617360a543f88	A 13-year-old mentally retarded girl with severe cutaneous and osseous @PHENOTYPICFEATURE$ of the hands and feet, @DISEASE$, and ectodermal dysplasia is presented.	false
+216fdf11782872a42f46654e503c2469b9cb10ab	A 13-year-old @PHENOTYPICFEATURE$ girl with severe cutaneous and osseous syndactyly of the hands and feet, @DISEASE$, and ectodermal dysplasia is presented.	false
+f3a95d843fdcb162ae283a20a2960a7411c5934d	@PHENOTYPICFEATURE$, ectodermal dysplasia, and @DISEASE$.	false
+22e8f4efe1896aa29da0d59a30e235a3e6a87e6b	Similar results were examined for @DISEASE$, @PHENOTYPICFEATURE$ (finger), syndactyly (toe), hypospadias, hydrocele testis, and Down's syndrome.	false
+a597fdbcdf77e96b14532c8af8f9a25748721fc8	Similar results were examined for @DISEASE$, syndactyly (finger), @PHENOTYPICFEATURE$ (toe), hypospadias, hydrocele testis, and Down's syndrome.	false
+0440db062f8d947a8cf91ff2a04518d0f07f8a3d	Ectodermal dysplasia, @DISEASE$, and severe cutaneous and osseous syndactyly in a @PHENOTYPICFEATURE$ girl: a new multiple malformation syndrome.	false
+b7e5cb3070de77424e09f1deaf09c5904ea57b1d	Ectodermal dysplasia, @DISEASE$, and severe cutaneous and osseous @PHENOTYPICFEATURE$ in a mentally retarded girl: a new multiple malformation syndrome.	false
+85fcc60f43984a2ae81f7469d8536d9b7b8213da	Two Turkish sibs, products of a second cousin marriage, with tetramelic @PHENOTYPICFEATURE$, ectodermal dysplasia, @DISEASE$, renal anomalies, and mental retardation are reported.	false
+c62876d4c32f87430feb6f30a08cd23b76fc669d	Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, @DISEASE$, renal anomalies, and @PHENOTYPICFEATURE$ are reported.	false
+00075c1eaf34376db145626021d21f2474b03b63	We report a case of 10-year-old male child with ectrodactyly, @PHENOTYPICFEATURE$, ED, @DISEASE$, hearing loss, and mental retardation.	false
+8d2bb2eca4dc7f1f3ffa2d4bcd2e9bf06d36605e	We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, @DISEASE$, hearing loss, and @PHENOTYPICFEATURE$.	false
+f3a95d843fdcb162ae283a20a2960a7411c5934d	@PHENOTYPICFEATURE$, ectodermal dysplasia, and @DISEASE$.	false
+904b9a2a62874a748c4f2e14b630e63090b5dd86	Bilateral @DISEASE$, hypertelorism with @PHENOTYPICFEATURE$.	false
+da6d030561958a8fa0cc6c5f60be9a79fda52abe	A total of 112 patients with Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with @PHENOTYPICFEATURE$ and hypodontia, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, @DISEASE$ and fucosidosis were included.	false
+bcb35ea4303e6feb1b24fb72a676ff9bccc282cb	The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and @DISEASE$), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several neurodegenerative disorders of brain iron accumulation.	false
+b517bd5b280b3180ffa82460963a971d19af775e	The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial @DISEASE$, III, and V, cerebrotendinous xanthomatosis, Wolman's disease, Tangier disease, Hand-Sch?ller-Christian disease, and normolipidemic cutaneous @PHENOTYPICFEATURE$, revealed lipid vacuoles, either membrane-bound or with no single unit membrane, cholesterol crystals, multivesicular or multilocular lipid bodies, myelin-like bodies, and ceroid granules (residual bodies).	false
+1ce4361c061a9fca60e3ff026dabd1badffce8a7	Specific model conditions were presented that illustrated issues involved in the use of family history information in pediatric settings, @DISEASE$ fibrosis, fragile X syndrome, polycystic kidney disease, @PHENOTYPICFEATURE$ and coronary artery disease, and birth defects.	false
+2cd6b25a072eecfedfafa14647ebfedb1e105d5f	Development and behaviour in @DISEASE$: an exploratory study of cognition, phenotype and @PHENOTYPICFEATURE$.	false
+fdc7c834fe5737f6a013dd749383ff3b409a91a5	We describe a 7-year-old girl who, in addition to meeting these criteria for @DISEASE$, had multiple fractures and @PHENOTYPICFEATURE$.	false
+69d17f81ae4bdad380b3b4f8d7d1eed68ad9d066	There were positive findings in 56 cases: phenylketonuria (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), @DISEASE$ A (1), hyperglycinemia with hyperglycinuria (1), renal @PHENOTYPICFEATURE$ (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type.	false
+f0f181fde48e3528111e864fd1755b8a2faead9f	@DISEASE$ and @PHENOTYPICFEATURE$ in two sisters.	false
+097f25aefe69fe2073d5d96737f0ebec780d010b	@DISEASE$ with @PHENOTYPICFEATURE$; report of a case in a 10-year-old boy with special reference to electromyographic studies, psychological evaluations, and autopsy findings.	false
+1f6b9cd0594c3de617ad506ff6f0d01de9f49f26	On the other hand, Bell's palsy, extrapyramidal syndromes, @PHENOTYPICFEATURE$, muscle dystrophies and @DISEASE$ are less common neurological disorders in Al Kharga district.	false
+47fb1a8295bbd43eeb478eb79a1c30813c9c3d41	Our differential diagnosis is that either the ocular form of @DISEASE$, convergence spasm or ocular @PHENOTYPICFEATURE$ could explain the symptoms.	false
+a7e4f7c980d96a8414b351f3733b467ddd14e272	Examples include myositis, neuropathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+457992b084a8a52aa44bf5e032f5c93016560b33	A 54-year-old man suffered from multiple neurologic disturbances (polyneuropathy, @PHENOTYPICFEATURE$, dysautonomia) associated with @DISEASE$ and malignant thymoma.	false
+0e98525ddb42728c3dd7199f9db6e40f764c94d8	This review describes the clinical features of the most common antibiotic toxicities affecting the nervous system: seizures, @PHENOTYPICFEATURE$, optic neuropathy, peripheral neuropathy, and exacerbation of @DISEASE$.	false
+b14aee54c0cd12c5776910e70e53a72a098425b5	Within the diagnostic groups the incidence of banding was: controls 32%, schizophrenia 28%, @PHENOTYPICFEATURE$ 27%, cerebellar ataxia 33%, Parkinson's disease 22%, @DISEASE$ 45% and epilepsy 31%.	false
+2181a56e1f6e4310f0fa1985f60cf2bc7af02b76	Within the diagnostic groups the incidence of banding was: controls 32%, schizophrenia 28%, mental retardation 27%, @PHENOTYPICFEATURE$ 33%, Parkinson's disease 22%, @DISEASE$ 45% and epilepsy 31%.	false
+3cb14715ea7f98140396cccecd0a30887faa6d0a	Ocular myasthenia is a form of @DISEASE$ in which weakness is restricted to the ocular muscles and may produce significant visual @PHENOTYPICFEATURE$.	false
+4b09dbbdd6d0bbe415d6695166e03b148f330a54	Pre-existing neuromuscular disease may also have specific anesthetic implications such as cardiorespiratory involvement (eg, @PHENOTYPICFEATURE$ dystrophica), the potential for drug interactions (eg, @DISEASE$) or abnormal responses to commonly used drugs (eg, malignant hyperthermia).	false
+7bb5ee6b3603396e4db23910e82da697b8dec990	Seizures, @PHENOTYPICFEATURE$, optic neuropathy, peripheral neuropathy, and exacerbation of @DISEASE$ are important examples of neurotoxic adverse events associated with the use of antibiotics.	false
+ab20eb94630e3dfb3f98cd135fc2a5243cdc4c8f	Patients with nonneuronopathic (type 1) @DISEASE$ may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, @PHENOTYPICFEATURE$, pulmonary disease, and decreased quality of life.	false
+5d76f3b3ece141a90d09d1a2ce7ebb5234c89208	@PHENOTYPICFEATURE$ in childhood was only recently recognized as a prominent feature of @DISEASE$ type 1, but there are few data on both the pubertal development and the final outcome of growth and sexual maturation.	false
+63e1ffcb2482bd2010c5ed142b8e15a63a26e2f6	Patients with non-neuronopathic (type 1) @DISEASE$ may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, @PHENOTYPICFEATURE$, pulmonary disease, and decreased quality of life.	false
+b44ae7f3c679fb356dcdc317dd6be1db5ce8b348	There is a high prevalence of @PHENOTYPICFEATURE$ in children with type 1 @DISEASE$.	false
+5c3c68eaeccabdc3c7fb8266750a4c772b3b3db3	Interruption of ERT in children with type 1 @DISEASE$ should be avoided because it can cause recurrent organomegaly, @PHENOTYPICFEATURE$, and skeletal manifestations that do not resolve after treatment reinstatement.	false
+7992084f3d4970ded45c971dc9aa8abbf5cb5d43	@PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$ is related to the alterations in IGF axis.	false
+3b35b5cb3fedfb14c306df092965604a89091822	The incidence and severity of @PHENOTYPICFEATURE$ in children with type 1 @DISEASE$ and the response to enzyme replacement therapy with alglucerase were studied.	false
+40a10e73464c5a5b9b27c23e940fcd9414b66342	@DISEASE$ is caused by a deficiency of glucocerebrosidase, resulting in hepatosplenomegaly, pancytopenia, @PHENOTYPICFEATURE$ and skeletal involvement.	false
+5780d5a44e8fc5df96233990920e6cf3077410b1	ERT with Imiglucerase could improve the quality of life of the patients with @DISEASE$ by ameliorating the Gaucher disease-associated anemia, thrombocytopenia, organomegaly, @PHENOTYPICFEATURE$ and bone pain.	false
+41d63a01562498bfae9049fa2b3036f54bebd99f	ERT with Imiglucerase could improve the quality of life of the patients with Gaucher disease by ameliorating the @DISEASE$-associated anemia, thrombocytopenia, organomegaly, @PHENOTYPICFEATURE$ and bone pain.	false
+579b7cf40368106ba4868dd91c340a010d3067e8	@DISEASE$ (CMT2D) is a dominantly inherited @PHENOTYPICFEATURE$ caused by missense mutations in the glycyl-tRNA synthetase gene (GARS).	false
+bf7a0d007727be6fb3cb7d28562ff16fc2e9cedd	The patients with @DISEASE$ were similar to those with AGN in respect to sex, race, location of residence, and living conditions, but were older and had markedly fewer @PHENOTYPICFEATURE$.	false
+d98c48c24837ea5927d654d104abdefa451b0aca	Sixty-eight per cent of skin infections in @DISEASE$ families and 69% of @PHENOTYPICFEATURE$ in Agn families yielded group A streptococci.	false
+15414245ae97bc03ddf70cea15edba89c58e5e39	Sixty-eight per cent of @PHENOTYPICFEATURE$ in @DISEASE$ families and 69% of skin infections in Agn families yielded group A streptococci.	false
+ec3951071e1ea490d3c6ae81668e832b99278bb1	Nurse-led school-based clinics for @PHENOTYPICFEATURE$ and @DISEASE$ prevention: results from a pilot study in South Auckland.	false
+f6aafd04dcae053491a1211ba8fba97480de2de5	Prevention of @DISEASE$ is dependent on the timely diagnosis and treatment of sore throats and @PHENOTYPICFEATURE$ in high-risk groups.	false
+00df6b81714faa368980e3ff646ba9b13d5edb50	@PHENOTYPICFEATURE$ and immunoglobulin A in serum, sweat, and saliva of patients recovered from poststreptococcal acute glomerulonephritis or @DISEASE$ and their siblings.	false
+ec1f1a58cf701ab4ac9a53c9ebfc9b1e23f88dee	Scabies is a major public health problem in the Pacific and is associated with an increased risk of bacterial @PHENOTYPICFEATURE$, glomerulonephritis and @DISEASE$.	false
+b0eb6ee32e29afc595afdc3fea1e6c9bfafd1340	Hospitalisations for @DISEASE$ (ARF) and @PHENOTYPICFEATURE$ for children aged 5?12 years living in Counties Manukau are declining and this appears to be temporally related to the introduction of the Mana Kidz programme.	false
+9e9d599d82c6f0242302b7bb7334c4313fa261a5	Cardiac lesions, closely resembling those found in @DISEASE$, have developed in rabbits that sickened following multiple, successive @PHENOTYPICFEATURE$ with several serological types of group A streptococci.	false
+f6c00fec1bc56f0dec4011a2133538b544192f59	In addition to pharyngitis and @PHENOTYPICFEATURE$, GAS are also the causative agent of post-streptococcal infection syndromes such as @DISEASE$ (ARF) and post-streptococcal glumerulonephritis (PSG).	false
+13076a22e67161807c492ce3cb2592904229faf4	The clinical epidemiology of group A streptococcal (GAS) infections in Hawaii seems different from that in the continental United States with frequent @PHENOTYPICFEATURE$ and endemically high rates of @DISEASE$ (ARF).	false
+fcfc8d0a3944247191f63f73fe3ccbbe3b305a60	Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo @PHENOTYPICFEATURE$ for @DISEASE$. Patients develop nervous system tumours (schwannomas, meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).	false
+67306ce58a52312aedd46d449eb1e23d528cdd8f	There are 2 types of neurofibromatosis described in the literature: von Recklinghausen disease, or neurofibromatosis 1 that involves peripheral nerve sheaths, and central, or @DISEASE$. Neurofibromatosis 1 very commonly involves renal arteries, and hypertension commonly is present in these patients due to stenotic ostial lesions resulting in bilateral @PHENOTYPICFEATURE$.	false
+cf4a31f7875de18200207a4dfa45613a6b564abf	We present evidence for an overlapping phenotype with the @DISEASE$ and propose a unifying, descriptive label be adopted (@PHENOTYPICFEATURE$-obesity-kidney-eye syndrome).	false
+b47fea9a4c3b19f0b9d5a8d1c1bc2dacac602bd3	The Bardet-Biedl syndrome (BBS), which consists of @PHENOTYPICFEATURE$, obesity, mental retardation, pigmentary retinopathy and hypogonadism has been known since 1922, but due to the great similarity to the clinical manifestations of the @DISEASE$ (LMS) there is a considerable terminological confusion in the medical literature.	false
+34b90fda8aa3d3604164b7fa84e8e0048d80b1b0	@DISEASE$ as a distinct entity is rare and features paraplegia in the absence of @PHENOTYPICFEATURE$ or obesity.	false
+1025a3437591b863446c39fc4f3e2a4d52ff32dd	The historically associated @DISEASE$ includes spastic paraparesis but not the obesity and @PHENOTYPICFEATURE$.	false
+1127d82275131268ceec7f219d64076782e3327d	Patients with @DISEASE$ (LS; primary GH insensitivity) caused by molecular defects of the GH receptor gene, are characterized by dwarfism, profound @PHENOTYPICFEATURE$, and hyperlipidemia.	false
+b9fbee2b4713853ebedf4a98e6aad83cad400c9f	Ecuadorian subjects with @DISEASE$ (GHRD) have not developed diabetes, despite @PHENOTYPICFEATURE$.	false
+8ef507a18959e2a3f1273770d27df038ed77c7fe	GHR(-/-) mice were different from the human @DISEASE$ in serum insulin level, insulin responsiveness, and @PHENOTYPICFEATURE$.	false
+7ccd15fce445cfbacccf80ac82e04a1d2a0bdefd	@DISEASE$ results in blunted ghrelin feeding response, @PHENOTYPICFEATURE$, and hypolipidemia in mice.	false
+fc9fe9fc77dc8bdceeaa3a43cf9fc71b6f49b09f	@PHENOTYPICFEATURE$, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with @DISEASE$, but cardiac hypertrophy has been observed after IGF1 therapy.	false
+2afd5b5e0c8c40bb1a97115c864f1e2be20c30e0	In @DISEASE$, @PHENOTYPICFEATURE$ is caused by GH resistance due to GH receptor (GH-R) defects, which are associated in most cases with absent or low serum concentrations of the GH-R-related GH-binding protein (GHBP).	false
+26d5baacac5fbf91ad31b285e305d34f9f806057	@DISEASE$ is an autosomal recessive disorder characterised by extreme @PHENOTYPICFEATURE$ and growth hormone (GH) resistance and has been shown in some cases to be associated with mutations in the GH receptor gene.	false
+92a56f7abb92377a6cc809b07519eae76dd8a881	They had typical appearance features of @DISEASE$ such as short stature and @PHENOTYPICFEATURE$, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice.	false
+6c86cc8acb4dae491cd86145a3ac29faf3015b92	A 16-year-old boy at Tanner puberty stage 2 with @DISEASE$ was born SGA to consanguineous parents, presented severe growth retardation, @PHENOTYPICFEATURE$ and micropenis.	false
+aa796362e3f40b8018fa2110b9225d2a38329616	A 16-year-old boy at Tanner puberty stage 2 with @DISEASE$ was born SGA to consanguineous parents, presented severe @PHENOTYPICFEATURE$, obesity and micropenis.	false
+a61d029cbd7011ab2c95e539d9dcbff1e592c9e5	Total and high molecular weight adiponectin are elevated in patients with @DISEASE$ despite marked @PHENOTYPICFEATURE$.	false
+33b2024a9758631fe9ceebfb5deac87c2916a10d	Shawaf-@DISEASE$ (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes @PHENOTYPICFEATURE$ and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions.	false
+34b145203035ceee0119454f9a527290f66a33bc	Shawaf-Traboulsi syndrome (or @DISEASE$; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes @PHENOTYPICFEATURE$ and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions.	false
+e8f85e552af23adbea0475be00bd769a95c7e135	Carbamazepine, a widely used antiepileptic drug that has been used for the treatment of both partial and @PHENOTYPICFEATURE$, for trigeminal neuralgia, as a mood stabilizer and for treatment of neuropathic @DISEASE$, may have negative chronotropic and dromotropic effects on the cardiac conduction system.	false
+dad96a05b59c995f17bf191481edae65433c80bb	Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, @PHENOTYPICFEATURE$, restless legs syndrome, central @DISEASE$, neuropathy and neuropsychiatric alterations has been described.	false
+2edc5e3e9790fc97a35c57a5f9302a76ea2b1289	This review will emphasize state-of-the-art methodology and diagnostic criteria for various clinical indications, including acute cholecystitis, chronic acalculous gallbladder disease, high-grade and partial biliary obstruction, and the postcholecystectomy @DISEASE$, including sphincter-of-Oddi dysfunction and @PHENOTYPICFEATURE$.	false
+2edc5e3e9790fc97a35c57a5f9302a76ea2b1289	This review will emphasize state-of-the-art methodology and diagnostic criteria for various clinical indications, including acute cholecystitis, chronic acalculous gallbladder disease, high-grade and partial biliary obstruction, and the postcholecystectomy @DISEASE$, including sphincter-of-Oddi dysfunction and @PHENOTYPICFEATURE$.	false
+7fab4697e76f3aa460319fa3fa2557df03e1bb89	@DISEASE$ (CFE) generally presents with @PHENOTYPICFEATURE$ that increase in severity and frequency as the disease progresses.	false
+a5d49c13ba36cb8949fd9f9823e11fe809be4bde	We confirm the unsatisfactory @PHENOTYPICFEATURE$ control and the guarded neurological and intellectual prognosis that has been associated with @DISEASE$.	false
+f8ae234862f05ad8ac31925e75c2d4bd7a50d2fb	Epilepsia partialis continua and other @PHENOTYPICFEATURE$ arising from the precentral gyrus: high incidence in patients with @DISEASE$ and neuronal migration disorders.	false
+d0f00dd1c6f44e157133ad5e7bc839d49d5092a2	Both classic and modulated cathodal t-DCS may be suitable alternative methods for improving @PHENOTYPICFEATURE$ outcome in @DISEASE$ patients.	false
+198aa9af49abe157071a7ae6ea3c6712ae1367fe	The authors recommend testing for porphyria in cases of @DISEASE$ and other intractable @PHENOTYPICFEATURE$.	false
+4fd2cdc01ea1467402439ab9a10e999306703f81	Our MRI findings are consistent with the progression of @DISEASE$ in the ipsilateral hemisphere even after functional-hemispherectomy without clinical @PHENOTYPICFEATURE$.	false
+0f5cdf5032fcc1367fc21314a3d02d769a1fb202	Prognosis of deep @PHENOTYPICFEATURE$ caused by cerebral fat embolism syndrome (@DISEASE$) is rarely reported.	false
+fc5fe75b0d517db7978fdc3f78e20b4a558efa3f	@PHENOTYPICFEATURE$ were due to cortical dysplasias (n = 27), @DISEASE$ (n = 37), or vascular malformations or strokes (n = 7).	false
+4b5423b162c0bd1b92a62132c4955c7ff4c872f8	Absence of @PHENOTYPICFEATURE$ in @DISEASE$ with active inflammation.	false
+0e3a021d3b72cb43cdd1fc9c40726d28673f4003	We examined @PHENOTYPICFEATURE$, cognitive, and motor outcomes in patients with @DISEASE$ or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies.	false
+00aa70da463c68219c3a85668dbd66bcb6ab1319	These results suggest that the present model, which administers IDPN chronically in the drinking water ad lib and does not show involuntary movements and @DISEASE$ syndrome, is of potential importance for investigation of chronic diseases of progressive muscle weakness with progressive @PHENOTYPICFEATURE$, and for assessing the efficacy of drugs and therapies for treating chronic neuromuscular diseases.	false
+92f8e54fcc2b9b21d72c44736f3d912b8694a0b2	Imaging showed an @DISEASE$ lesion involving the proximal one-third of the humerus, with central lysis, surrounding sclerosis and @PHENOTYPICFEATURE$, endosteal scalloping, and cortical thinning and expansion.	false
+87c4e7e5fb568a5f9e9d7616016e11735fff3d46	We examined changes in the relationship between penalty pressure and outcomes before versus after HRRP announcement among 2698 hospitals serving 6,936,393 Medicare @DISEASE$ patients admitted for target conditions: acute myocardial infarction, heart failure, or @PHENOTYPICFEATURE$.	false
+2a0230081111cae2c3bade2b75efcb302a28f1ce	@DISEASE$ (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and @PHENOTYPICFEATURE$.	false
+66d1d3b4a23fcb8674346bbb8e86d10285bf4860	Silver syndrome (@DISEASE$) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and @PHENOTYPICFEATURE$.	false
+2630b13716731bd56d627d222d531229fb0dc053	Interestingly, the patients in 7/8 families had a complex phenotype, with @PHENOTYPICFEATURE$, severe upper limb amyotrophy (@DISEASE$-like), mental impairment, parkinsonism, deafness and/or retinitis pigmentosa as variably associated features.	false
+39e515312d6ab31b877747ea3c036f5a06e117fb	Macrocephaly, growth failure, translucent skin, @PHENOTYPICFEATURE$, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the @DISEASE$17q12 syndrome.	false
+808fdea25e964f00c878e5a48426ffa7a1905caa	A Syndrome Characterized by @DISEASE$, @PHENOTYPICFEATURE$, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.	false
+ff836453ef37f13f2969fed657ea0e5909be01bf	In addition, the patient showed @DISEASE$ manifesting as thin hair, dystrophic nails, and @PHENOTYPICFEATURE$.	false
+feee095268223058f28305c053343e3788c6562e	Ellis-van Creveld Syndrome (ECS) is characterized by chondrodysplasia, @DISEASE$, @PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+ed8ffc3f247a8638dfe1b7861e5262cd2a7f4f9f	@DISEASE$ with alopecia, onychodysplasia, hypohidrosis, keratoderma, @PHENOTYPICFEATURE$ and deafness.	false
+fc9804ba6f0b4e3b5c489c6e0107ad5b1af061bb	It is a tetrad of chondrodysplasia, @DISEASE$, @PHENOTYPICFEATURE$, and congenital heart disease.	false
+d127cf1d9f8343650f7135bed0e2ca411b093fde	The four principal characteristics are chondrodysplasia, @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart defects.	false
+d127cf1d9f8343650f7135bed0e2ca411b093fde	The four principal characteristics are chondrodysplasia, @PHENOTYPICFEATURE$, @DISEASE$ and congenital heart defects.	false
+a8f4849ad003658694a0333cd8f0748c7d67b5b9	Split-hand defect, @PHENOTYPICFEATURE$, gastrointestinal anomalies, and @DISEASE$ have not been described previously in children with 6q deletion.	false
+45ed5cabfcde4a3050c81aabb8fcd9704260a248	[Type III shortrib-@PHENOTYPICFEATURE$ syndrome (Verma-Naumoff) in concomitance with @DISEASE$ (author's transl)].	false
+1743a436624f674bef24bd640880a1cbc3090ed3	It is described as a clinical tetrad that involves chondrodysplasia, @DISEASE$, @PHENOTYPICFEATURE$ and congenital heart defects.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+fe7a2cdb7393778b7d343647bfd1b98a4ef9d57d	We report a @PHENOTYPICFEATURE$ young male with the features of the @DISEASE$.	false
+b4aa22cc32a65db2cbd6273c4396bd9649e2137a	[Torticollis and @PHENOTYPICFEATURE$ due to @DISEASE$ in a child].	false
+573abacd57ebe863aff928b44267a94de8283177	Acute @PHENOTYPICFEATURE$ in a 4-year-old boy: a case of Lyme disease @DISEASE$.	false
+10e649bd63d3f2c7ce557de647eade8e0edd4a74	Acute @PHENOTYPICFEATURE$ in a 4-year-old boy: a case of @DISEASE$ neuroborreliosis.	false
+30b2b00d1f7d63523d77850cf6cb37a6e53203ff	[Alcohol and epilepsy: a case report between alcohol withdrawal @PHENOTYPICFEATURE$ and @DISEASE$].	false
+9012aa2ebfebe9c324ac53d9d394c6c92e521c18	Acute @PHENOTYPICFEATURE$ in a pediatric case of @DISEASE$ and a review of literature.	false
+d39e07b34d7cee8ca14b7631639e0be7d46a2f89	@PHENOTYPICFEATURE$ as initial and only manifestation of @DISEASE$: case report.	false
+14ad2d3968c6ad51417e37389a8aea39cd6a256d	Acute @PHENOTYPICFEATURE$ may be a clinical presentation of @DISEASE$.	false
+00f234c1a0852313207ad87656c77eb874d36564	Neurologic manifestations of @DISEASE$ include meningitis, @PHENOTYPICFEATURE$, and cranial and peripheral neuropathy.	false
+650b3d61e4a7e947ce54bd9b0e696c366d2f7c00	Early neuroborreliosis presents with symptoms such as headache and meningism; late @DISEASE$ can present with signs and symptoms of @PHENOTYPICFEATURE$ and stroke-like symptoms.	false
+dc91560c008a800422a3f08252599898ec4482b3	We report four unusual cases of childhood @DISEASE$ and show that @PHENOTYPICFEATURE$ with regional leptomeningeal enhancement, acute transverse myelitis, meningoradiculitis with pain and paraesthesia and cranial nerve palsies other than facial nerve palsy can be the leading symptoms of children with neuroborreliosis.	false
+31ffca28fc8c39e37a6b7be591c7bc432999bce1	We report four unusual cases of childhood neuroborreliosis and show that @PHENOTYPICFEATURE$ with regional leptomeningeal enhancement, acute transverse myelitis, meningoradiculitis with pain and paraesthesia and cranial nerve palsies other than facial nerve palsy can be the leading symptoms of children with @DISEASE$.	false
+c15e06b0996ecdaf563ce52c74d9ba07430d7934	Months to years after the initial infection with B. burgdorferi, patients with @DISEASE$ may have chronic @PHENOTYPICFEATURE$, polyneuropathy, or less commonly, leukoencephalitis.	false
+e8f47ea369fb3a8df73cee925428dfa0b9b5fb70	Altered homeostasis of CoA has been observed in diverse disease states including starvation, diabetes, alcoholism, Reye syndrome (RS), @DISEASE$, vitamin B12 deficiency, and certain @PHENOTYPICFEATURE$.	false
+a162d61a9f43b5098bc0b0de80651657c5021649	Long-chain acyl CoA dehydrogenase deficiency is differentiated from @DISEASE$ by younger age at presentation, more profound cardiorespiratory depression, evidence of cardiomyopathy, and sequelae of @PHENOTYPICFEATURE$, hypotonia and developmental delay.	false
+8987694b8fdb6f7ebbfd17d1e17d33728a74325d	Mutations in LRP2 have been shown to cause the @DISEASE$ (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome, a syndrome associated with @PHENOTYPICFEATURE$, ocular anomalies, sensorineural hearing loss, low molecular weight proteinuria, and diaphragmatic hernia and absent corpus callosum, although there is variability in the expression of some features.	false
+2e08eef240b108ecf2eb692cf863e4ae0feb5a09	No statistically significant differences were found in the sensitivity of the SD @DISEASE$ kit compared between primary or secondary infections (87.05% versus 93.57%, respectively, P = 0.0761) and dengue fever or dengue hemorrhagic @PHENOTYPICFEATURE$ cases (90.77% versus 89.74%, respectively, P = 0.7716).	false
+97f9e0be2c42c690061792cd0e7457b256b5b0f1	Angiomyomatous @PHENOTYPICFEATURE$ of the popliteal lymph nodes in a patient with @DISEASE$: case report.	false
+63d5b47de978dbefc57bfe6ab82d6056b38e8739	@DISEASE$ associated with abdominal @PHENOTYPICFEATURE$ with undescended testis.	false
+121a652a19672c7dae0bec028a0ca5e1144b86d8	We report the rare case of a patient, JNR, with history of mixed handedness, developmental @PHENOTYPICFEATURE$, dysgraphia, and attentional deficits associated with a @DISEASE$ and a small subcortical frontal lesion involving the left arcuate fasciculus.	false
+78b9927d8343f790ea4da6dcfefb0ae6515b767e	The available data suggest that many patients with @DISEASE$ are asymptomatic and that the risk of stone formation is increased by an associated @PHENOTYPICFEATURE$ such as hypercalciuria or hyperparathyroidism.	false
+46a62e373c72738519e1e3b0239781980f8e2ade	@PHENOTYPICFEATURE$ @DISEASE$ granuloma.	false
+bccb4a80118497ec95e626275a9e7f7ceebb2b6f	Neuropathic @DISEASE$ @PHENOTYPICFEATURE$.	false
+deca43da41a09bed045e917a7697d7b7e48e9682	Cervico @DISEASE$ @PHENOTYPICFEATURE$ and tongue lymphagioma is rare representative of spectrum of lymphatic malformations.	false
+c0b28b10c3ac9483d05b63f3a08b4c791635b507	Complications were seen in five patients (1 with deafferentation pain, 1 with @DISEASE$ hypesthesia, 1 with @PHENOTYPICFEATURE$ and 2 with partial VI neuropathy).	false
+5adb510421a03d6728fb8a374ccaaf7aa128e377	Complications were seen in five patients (1 with deafferentation @PHENOTYPICFEATURE$, 1 with @DISEASE$ hypesthesia, 1 with visual loss and 2 with partial VI neuropathy).	false
+0532c94d3f16909976a872f13bb1cb2dd8e2edcc	Limited horizontal gaze and @PHENOTYPICFEATURE$ are the most common features; affected individuals can also have @DISEASE$ weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects.	false
+8e3831a9aaa2521738f554496b18785908fdad4d	Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have @DISEASE$ weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or @PHENOTYPICFEATURE$.	false
+fb438aa4564d4de3913650c5e9a38cd24f1d7b05	Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-@DISEASE$-@PHENOTYPICFEATURE$.	false
+8e9def116fd215374d2d7a9d19139930da98778b	We report the combination of @PHENOTYPICFEATURE$ with @DISEASE$ diplegia, ptosis and hypermobile joints.	false
+b414c1f936bf71337e5951bf79989cfc6d07217b	We report the combination of sensorineural deafness with @DISEASE$ diplegia, @PHENOTYPICFEATURE$ and hypermobile joints.	false
+4ecf8b74afbe7e57dd5d6c1ce36d03744caebefc	Headache and visual impairment were the most common clinical symptoms, followed by @DISEASE$ hypesthesia and @PHENOTYPICFEATURE$.	false
+04a144597233ac1f713b203c6a6b762824f4f92d	Headache and @PHENOTYPICFEATURE$ were the most common clinical symptoms, followed by @DISEASE$ hypesthesia and ptosis.	false
+4283448e0b2d6c8aa4e56a652748125d53ca240c	[Correction of @DISEASE$ cutaneous @PHENOTYPICFEATURE$].	false
+2ce0962f0df3d4ae719afb3621aed1aad6b2c6e9	The heterogeneity of oral-@DISEASE$-@PHENOTYPICFEATURE$.	false
+413f53944b1ebcecd1d2e94ef6b2ebf3ca08b1e0	Mutations in L1CAMs can cause the neurological @DISEASE$ and are associated with @PHENOTYPICFEATURE$ and neuropsychiatric disorders.	false
+f24bf281a09ec48a6e96415c593042bf86f970c8	Microduplications of the @DISEASE$ region containing NSD1 on 5q35 have recently been proposed to cause a syndrome of microcephaly, @PHENOTYPICFEATURE$ and developmental delay.	false
+6cc382dbabbb6bc9fe55d642e6e4824edea9b6f3	@DISEASE$ is an overgrowth syndrome with characteristic @PHENOTYPICFEATURE$, variable severity of learning disabilities and macrocephaly with overgrowth.	false
+f4ee2633db0317a577d46e7e2c75237045721b04	A syndrome of @PHENOTYPICFEATURE$, microcephaly and speech delay is associated with duplications reciprocal to the common @DISEASE$ deletion.	false
+de9a4f0707648a345203d96585227ae881e2b9d8	On charts containing the regression line ?2 standard deviations for subjects aged 0-2 months and 2 months to 21 years, Turkish and Moroccan children, as well as children with idiopathic @PHENOTYPICFEATURE$ and small for gestational age, had a normal HC for height, whereas children with an insulin-like growth factor 1 receptor defect or @DISEASE$ showed trends towards a smaller or larger HC for height, respectively.	false
+24f940b6e643b3225aa93b3f75e9f33a14e0f144	Subtracting the symptoms of @DISEASE$ from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal @PHENOTYPICFEATURE$, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion.	false
+f3f19abb4484cb9ed9dc3b16c791b13cad5f6135	@DISEASE$ is sometimes complicated with cardiovascular malformations, including @PHENOTYPICFEATURE$ (LVNC) as reported in some previous articles.	false
+c7261db161c3ae341cb38ed0588f68dd9f0ed42e	@DISEASE$ is characterized by overgrowth, @PHENOTYPICFEATURE$ and learning impairment.	false
+97c4da40221577611651a44928107f5e8fb80114	A 22-year-old man was diagnosed with @DISEASE$ with @PHENOTYPICFEATURE$.	false
+5c115834035a5ad3386518b5d458ee51ae7aa50e	This "lack of overgrowth in overgrowth syndrome" is reminiscent of a subset of patients with a @PHENOTYPICFEATURE$ who have @DISEASE$, a prototypic overgrowth syndrome.	false
+75d0d772e89edacffa79c88dcd06571b91cb84db	Among 80 liveborn children who were followed up, three (4%) had syndromes involving mental retardation, including a case of @DISEASE$ caused by a de novo @PHENOTYPICFEATURE$.	false
+f7aa73f7fc43b1d7e83ace3534ddf77722fea1ce	The patient's limb and urogenital features were similar to those observed in @DISEASE$, which is caused by haploinsufficiency of HOXA13, whereas the @PHENOTYPICFEATURE$ may reflect the deletion of HOXA3.	false
+d9e2c31848085111d0b0d62548fcdb1d80567e89	@DISEASE$ (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and @PHENOTYPICFEATURE$.	false
+1afe5508349c215732aa513fff71f8a3a9ad108b	Popliteal pterygium syndrome (@DISEASE$; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and @PHENOTYPICFEATURE$.	false
+1f64b2118af2c6d917921b82d6d3707fed41b511	Certain features of @DISEASE$ such as generalized fatigue, generalized and specific @PHENOTYPICFEATURE$, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia.	false
+6b40cc67d25ed202ef6554cec65bb401bf6a2f7b	The post-polio syndrome (@DISEASE$) is an entity characterized for an episode of @PHENOTYPICFEATURE$ and/or abnormal muscular fatigue in individuals that had presented acute polio years before.	false
+a3c114fb0d6d59e6b45949a2ac3d66d494534410	which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d7ba28c110a352e1886e53325fb2f1f96a39ca3b	The anatomy of the @DISEASE$ is responsible for a wide variety of @PHENOTYPICFEATURE$ arising from the PPS.	false
+10f4abbfa79651137aec1a97eb176aa8f421d023	The anatomy of the PPS is responsible for a wide variety of @PHENOTYPICFEATURE$ arising from the @DISEASE$.	false
+08cfd99fc4540882a9f4ea2a57b00b9ae72369fd	The symptoms of @DISEASE$ vary widely and include flaccid palsy, @PHENOTYPICFEATURE$, scoliosis, osteoarthritis, gait disturbance, sleep apnea syndrome (SAS), dysphagia, chronic lung dysfunction, and others.	false
+1d7b3470646319e526b30e03ebfa6bd7f4227faa	The majority of @DISEASE$ @PHENOTYPICFEATURE$ are benign.	false
+671df8e447cabf80afd8a2d85faaea29ce5f923a	This series of 99 PPS @PHENOTYPICFEATURE$ provides an overview of the clinical course and management of @DISEASE$ tumors.	false
+4e4ce2651d0139715a85f8a9599f7a7f82ff68fb	This series of 99 PPS tumors provides an overview of the clinical course and management of @DISEASE$ @PHENOTYPICFEATURE$.	false
+2ff4fee6c0b114efa20ce339dbcf20bee519d685	This series of 99 @DISEASE$ tumors provides an overview of the clinical course and management of PPS @PHENOTYPICFEATURE$.	false
+34370d82e1e6d2419300ecd1a23b2500c578f00f	This series of 99 @DISEASE$ @PHENOTYPICFEATURE$ provides an overview of the clinical course and management of PPS tumors.	false
+87cc29929301cc524fab64ce0a1b11c180f2650c	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset @PHENOTYPICFEATURE$, neurodegeneration with brain iron accumulation, primary familial brain calcifications, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative @DISEASE$.	false
+91491f8858932869ead0454725946310b62469e1	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited @DISEASE$ found in complex hereditary spastic paraplegia, young onset @PHENOTYPICFEATURE$, neurodegeneration with brain iron accumulation, primary familial brain calcifications, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+338c1ea9818f55131f415e09ccca4ea3f3339886	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited @DISEASE$ found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+891266748afc67f09f3a5baf18fec47e9f5488e5	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, neurodegeneration with brain iron accumulation, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative @DISEASE$.	false
+0baae9820b7a585e38b8ddbfb8e946f495d85977	Patients diagnosed as having @DISEASE$ @PHENOTYPICFEATURE$ were studied.	false
+991c3528a612ba362c4c6ed3cdd43ada9b34e822	The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of Ollier disease, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH expression in @PHENOTYPICFEATURE$ type E. Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of @DISEASE$ it is dominantly inherited.	false
+5899cd65bb1dc93f6bed4615077dedec7974b579	The PTHLH gene within this region encodes a ligand for PTHR1: mutations in the gene encoding this receptor are associated with some cases of @DISEASE$, several skeletal dysplasias including Blomstrand, Eiken, and Jansen and down-regulation of PTHLH expression in @PHENOTYPICFEATURE$ type E. Our findings suggest that abnormal PTHLH-PTHR1 signaling may underly this unusual form of enchondromatosis and indicate that unlike most cases of Ollier disease it is dominantly inherited.	false
+97847154427d6e13056dacb614d0893a876ccf5a	[@PHENOTYPICFEATURE$ and @DISEASE$ in four year old girl].	false
+6f57a41777c04cbc01c29b07e118722970f70cb6	The purpose of this study was to evaluate the efficacy of partial resection of the cortical bone with curettage of the tumor (corticoplasty) for treating @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b32dbca3533ee1a70edd13b3efe3f25acea878fd	The @DISEASE$ (KFS) has been reported to be associated with intracranial @PHENOTYPICFEATURE$, most frequently epidermoid or dermoid cysts.	false
+bff84896f373c30fabcb31bdb2c8f5e5655ec284	To our knowledge, this is the first report of an anteriorly located intradural extramedullary cervical spine @PHENOTYPICFEATURE$ in association with @DISEASE$ treated with this surgical technique.	false
+24edf7eff034d0fd788a5c9b24e506d322ff62f5	Short stature, mental retardation, craniosynostosis, @DISEASE$, Scheuerman kyphosis, rib gaps and other distinctive skeletal and @PHENOTYPICFEATURE$.	false
+bdf345fe54d88688d92d4e4726fb36ed2fc4afa0	@DISEASE$ with unilateral renal agenesis and @PHENOTYPICFEATURE$.	false
+3b9d072cb9bf0371bdf8ff3c928a918cd08e288e	Uncommonly, @DISEASE$ (KFS) has been associated with intracranial or spinal @PHENOTYPICFEATURE$, most frequently dermoid or epidermoid cysts.	false
+24444373fd33e18827ab41895bb4a9e3a863b5d9	Intracranial tumors associated with @DISEASE$ usually occur in children, with spinal @PHENOTYPICFEATURE$ being more common in adults affected by the syndrome.	false
+aa190f7df68ebb854d6399019531101908830fe9	Intracranial @PHENOTYPICFEATURE$ associated with @DISEASE$ usually occur in children, with spinal tumors being more common in adults affected by the syndrome.	false
+74a9c833c8405bf65ac8b89691c7845878b092ef	After adjustment for age, the KCL score was significantly associated with @PHENOTYPICFEATURE$, diet score, and coronary artery disease (CAD); frailty, with @DISEASE$ and inoccupation; prefrailty, with diet score; and sarcopenia, with living alone in men.	false
+bdae90cceee6277bdf4b92d090c1ca2735b2992a	After adjustment for age, the KCL score was significantly associated with @PHENOTYPICFEATURE$, diet score, and coronary artery disease (@DISEASE$); frailty, with CAD and inoccupation; prefrailty, with diet score; and sarcopenia, with living alone in men.	false
+96263859db76cff06b0968d1eeed570c383de147	This autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, @PHENOTYPICFEATURE$ and frequently premature coronary artery disease (@DISEASE$).	false
+c98c72246ce5e72bce94b38b88f30004e9284642	Occurrence of @DISEASE$, @PHENOTYPICFEATURE$, diabetic foot, and LEA was significantly higher among males than when compared to females.	false
+642c2f5b71846ceca7372deb1525436b2c42c879	We evaluated the associations between glycemic therapies and prevalence of diabetic @PHENOTYPICFEATURE$ (DPN) at baseline among participants in the Bypass Angioplasty Revascularization Investigation 2 Diabetes (BARI 2D) trial on medical and revascularization therapies for coronary artery disease (@DISEASE$) and on insulin-sensitizing vs. insulin-providing treatments for diabetes.	false
+e7fb2fc969e7028460f8cd5658779f044606460b	Subjective @PHENOTYPICFEATURE$ have been associated with increased risk of coronary artery disease (@DISEASE$).	false
+0aea8e6ee1c4658e22f9e36a58b5ec26a7b71342	The study was aimed at determining the incidence of changes in sexual function and identifying the possible associated variables of @PHENOTYPICFEATURE$ (ED) in coronary artery disease (@DISEASE$) patients undergoing coronary stenting.	false
+473c50237109bb9f299cb6a162789c2e6b3e7733	Early kindling involved extremely rapid progression to bilaterally @PHENOTYPICFEATURE$ of short @DISEASE$.	false
+27f179abd8b8cb5b265b7614cfd85ce6ec874297	@PHENOTYPICFEATURE$ semiology (p=0.01) and short seizure @DISEASE$ (p=0.0007).	false
+4f8cdfcf0db277228ae9998d62afd647850edbc3	Completers and noncompleters had similar age, sex, diabetes @DISEASE$, @PHENOTYPICFEATURE$-hypopnea index, and Epworth Sleepiness Scale (P ? 0.29).	false
+0ad949b2216743d1102be359a26c8e6b7f5575d4	P364S MAPT mutation is characterized clinically by a variable combination of @PHENOTYPICFEATURE$, parkinsonism and motor neurone disease of short @DISEASE$, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member.	false
+da9121e66977f3e88be4f58a2fc24c943d5b8fa4	@PHENOTYPICFEATURE$ and @DISEASE$ of respiratory failure and mortality in critically ill patients.	false
+402007703b882ea709605bc2c12a98dacfe860d8	@DISEASE$ chondrosarcoma tends to be less calcified or even to lack matrix calcification; it is associated with bone erosion but not with bone destruction or @PHENOTYPICFEATURE$; and it usually appears avascular at arteriography.	false
+e72d37b768fb992ebc13d976b3a6704b36b04b5b	We measured mental and motor development in 27 infants and 14 children with end-stage @PHENOTYPICFEATURE$ who were awaiting liver transplantation, and we measured disease-related variables (physical growth, liver function, and severity and @DISEASE$ of disease) that may relate to development.	false
+6be1a556aafe5a0407b183b7f71052cb4337ea61	Reduction should be actively encouraged only in patients with @PHENOTYPICFEATURE$ or benign focal epilepsy and those with epilepsy of short @DISEASE$.	false
+d59d0a0a2d4a1ffb3c878ca716836944991f7fbf	To investigate whether @DISEASE$ could preserve Cx43 and reduce I/R induced @PHENOTYPICFEATURE$.	false
+3164de07123c6efd09b12ccd3eb6aa4a90d5a362	A 4-year-old Chinese boy presented with @PHENOTYPICFEATURE$ but no other clinical features of SBBYSS or @DISEASE$ had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X).	false
+9df7abb7d156dcf9c11142bd0255b3f385fc5767	This concept has been adopted in the proposed system that integrates a @PHENOTYPICFEATURE$ prediction algorithm with a global position system (@DISEASE$) locator and short message service such that the current glucose value with the rate of change (ROC) and the location of the subject can be communicated to a predefined list.	false
+0963246ea136c136ec20505068176914588bf44a	Fibrotic-necrotic tissue was resected in 11 cases, 12 had mature teratoma, and residual cancer was found in 2. After the combined-modality treatment, 37 patients (82.5%) entered complete remission (CR): 25 (62.5%) with PEB and 12 (30%) with @DISEASE$ and complete removal of the residual @PHENOTYPICFEATURE$.	false
+81d4a888ef4f9e9156ef2b2b5870696663032466	Treatment with @DISEASE$ regimen induced both @PHENOTYPICFEATURE$ regression and alpha fetoprotein normalization.	false
+16fcedb4b9da96274603ef030234f04dddce2b30	@PHENOTYPICFEATURE$ are characteristics and include shawl scrotum, @DISEASE$, and inguinal hernia.	false
+95025fbbb9e36676892f7bc31575c792ae678617	In micropenis cases accompanied by external @PHENOTYPICFEATURE$ such as hypospadias and @DISEASE$, infertility 	false
+8fd6847cc9956182e41b07312633c73e6fcdd5ca	Prune-belly syndrome is characterized by the triad of deficient abdominal musculature, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a7b019abd1345f83d2b96f1f5ba2352e2346596d	Associated @PHENOTYPICFEATURE$ in familial @DISEASE$.	false
+3907288d1002205917e5471359fc953d2eeaad9d	Common features included hand anomalies, @DISEASE$, and a large number of @PHENOTYPICFEATURE$.	false
+cfda492201fc61d04e39eb3109b330b439221fce	Abdominal muscle deficiency or hypoplasia, @PHENOTYPICFEATURE$ and @DISEASE$ are usually recognized.	false
+daed31e68ba43789d85813026c6d8b726108ab14	Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, @PHENOTYPICFEATURE$ with @DISEASE$, and normal intelligence.	false
+6f6749c687e672dad5b4e4dbfd59ee5eed3e7fd2	Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, @PHENOTYPICFEATURE$, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with @DISEASE$, and normal intelligence.	false
+82965e0a8e50d56fa788253245e7ecb69cffc46e	The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental delay, @PHENOTYPICFEATURE$, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, @DISEASE$, and hypotonic muscle.	false
+c41f464589b6e026fe7141647c68c3ccc7826d8d	The patient had determined dysmorphic clinical features including facial asymmetry, @PHENOTYPICFEATURE$, gastroenteritis, hydronephrosis, developmental delay, genital anomalies, dysplastic toenails, flattened nasal bridge, congenital heart defect, hearing loss, @DISEASE$, and hypotonic muscle.	false
+b77d78593c796c1580bf9e990f78e1b6227e21b1	Clinical examination revealed a myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound muscle weakness, areflexia, multiple @PHENOTYPICFEATURE$, mild skeletal abnormalities and @DISEASE$.	false
+9576ad0696d6d474824eaab7ff6da298b32137d6	Clinical examination revealed a myopathic face with a characteristic tent-shaped open mouth, tongue fibrillations, profound @PHENOTYPICFEATURE$, areflexia, multiple contractures, mild skeletal abnormalities and @DISEASE$.	false
+38b8500a23b5c1c6a9102f4b5d10b6921fda9465	A developmental defect of the abdominal wall musculature is commonly associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+15cfb046cbce7261817ca59eea0b47c880cfe560	Among the 134 diagnosed cases, there were 19 cases of hand absence, 5 cases of cleft hand, 13 cases of @PHENOTYPICFEATURE$, 26 cases of radius absence, 9 cases of forearm and hand dysplasia, 55 cases of @DISEASE$, 6 cases of wrist joint dysplasia, and 1 case of forearm amputation deformity.	false
+34bb48d8ee72db37910fec1be392785804b6a951	Among the 134 diagnosed cases, there were 19 cases of hand absence, 5 cases of @PHENOTYPICFEATURE$, 13 cases of ectrodactyly, 26 cases of radius absence, 9 cases of forearm and hand dysplasia, 55 cases of @DISEASE$, 6 cases of wrist joint dysplasia, and 1 case of forearm amputation deformity.	false
+7be7c97f212668d7236f04b96142cde4402fc0be	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, @DISEASE$, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+14cd5aea4612b27c32a2164054974256bf053774	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, @DISEASE$, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+2d1789dab5129d8f2e11ff53e9c66ae12c3dbe99	There were three patterns of abnormal cerebral lamination: (1) no normal laminar pattern before 28 weeks (n=32), in association with severe ventriculomegaly, diffuse ischemia, @PHENOTYPICFEATURE$, teratogen exposure or lissencephaly; (2) focal disruption of lamination before 28 weeks (n=24), associated with hemorrhage, porencephaly, stroke, migrational abnormalities, @DISEASE$, meningomyelocele or encephalocele; (3) increased prominence and echogenicity of the intermediate zone before 28 weeks and/or persistence of a laminar pattern beyond 33 weeks (n=10), associated with Type 1 lissencephaly or CMV infection.	false
+0b89cfdff6872519f5be115b0ca98782af022865	Specific final diagnoses included @DISEASE$ (8), osteogenesis imperfecta (6), Roberts syndrome (2), achondroplasia (3), Ellis-van Creveld syndrome (1), @PHENOTYPICFEATURE$ (1), spondyloepiphyseal dysplasia (1), distal arthrogryposis (1), caudal regression (1), and glycogen storage disorder (1).	false
+45de02a41327476007784bafa110281b9584a697	We have examined 1500 fetuses and have detected conditions that affect only one system, like the skeletal dysplasias (osteogenesis imperfecta, @DISEASE$, diastrophic dwarfism, achondrogenesis I, Jeune syndrome and many others), @PHENOTYPICFEATURE$, gastroschisis, multiple congenital malformations syndromes (Vater, Vacterl, Weyers olygodactyly, Meckel syndrome, and others).	false
+47cf7a25058df9ee75631c5eca132642b4684e07	Their brother was diagnosed as having @DISEASE$, @PHENOTYPICFEATURE$ and urinary dysfunction.	false
+52c849b19e8afd801473b79b8184abdbbcfd596a	These results indicate that polymerase chain reaction-based assays give reliable and robust results for the detection of @DISEASE$, but that caution should be exercised in relying exclusively on DNA obtained from lymphoblasts in childhood @PHENOTYPICFEATURE$.	false
+4a195353c55205da0667c6562272360835dbed98	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, @PHENOTYPICFEATURE$, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+331f1087199cb9334193356c31a1bc007f134eee	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (@PHENOTYPICFEATURE$, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities).	false
+3413a832756dacac66d9626ee8473547963b1c37	Ethanol and water immersion restraint stress (@DISEASE$) induced gastric damage, including hemorrhages and @PHENOTYPICFEATURE$, was significantly attenuated by pretreatment with SK-MS10.	false
+e50c5b4f349e6b79c95753b6ae4d7af045340340	Liver cirrhosis is associated with a wide range of cardiovascular abnormalities including hyperdynamic circulation, @DISEASE$, and pulmonary @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+e2aea83c0c267c7ad7f0929a528d977eb62939bb	Paraneoplastic optic neuropathy and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+79f9dbc7cce827d750087d837a164eb71374cc75	Anti-epileptic drugs for @PHENOTYPICFEATURE$, chemotherapy for @DISEASE$, and intravenous immunoglobulin and steroids for paraneoplastic limbic encephalitis led to a resolution of her seizures and improved her mental status.	false
+894e1efa13a4f747d2c23fcf8ee5d27144b5e6d3	Anti-epileptic drugs for seizures, chemotherapy for @DISEASE$, and intravenous immunoglobulin and steroids for paraneoplastic limbic encephalitis led to a resolution of her @PHENOTYPICFEATURE$ and improved her mental status.	false
+611666c9f12b46c19efea94923748a437c51be57	In the adult oncologic population, opsoclonus is seen usually within the context of opsoclonus-myoclonus @PHENOTYPICFEATURE$ and is associated most strongly with @DISEASE$.	false
+1c263f7beaac560e8780bbbe3f73f97fa1f5eec6	Bilateral optic neuropathy and subacute @PHENOTYPICFEATURE$ were manifestations of a paraneoplastic neurologic disorder in a woman found to have @DISEASE$.	false
+894430c673a1535b7ba915771d7949263b14fd2f	GABAB-R autoimmune disease is characterized by refractory @PHENOTYPICFEATURE$ or status epilepticus and frequent association with @DISEASE$.	false
+e41ab1ceee17d28b39305d57dd3a374b49b38876	@DISEASE$ metastasis in the pituitary gland presenting with @PHENOTYPICFEATURE$ and headache.	false
+588edb1e75bf4c5f5fb96bdc6b0d0ba7cbeae2fc	Herein, we discussed a case of an otherwise healthy man who presented with progressive gait imbalance and @PHENOTYPICFEATURE$, found to have @DISEASE$.	false
+0ba39b9675ce73292694a3c39ce243de2aea7f47	The patients had a clinical triad of memory changes, @PHENOTYPICFEATURE$, and association with @DISEASE$.	false
+8d3a67c8c7d3b385ee4ccd84c4e9640ae569248a	Autopsy case of opsoclonus-myoclonus-@PHENOTYPICFEATURE$ and cerebellar cognitive affective syndrome associated with @DISEASE$.	false
+1fdff1917379b7812a2015e219c504ab5711fae8	A discussion of the clinical management including diagnostic workup and treatment of @PHENOTYPICFEATURE$ paraneoplastic syndrome and limited-stage @DISEASE$ is provided.	false
+43c70e3e6ef04615663acc9a493a923ab795bda0	Craniosynostosis and @PHENOTYPICFEATURE$ in I-cell disease (@DISEASE$).	false
+d2d61b5d385c4a6c3ecef7d14eff76d4a3f1962e	Craniosynostosis and @PHENOTYPICFEATURE$ in @DISEASE$ (mucolipidosis II).	false
+aa717d5bb4602bcde1c2e9f61a2daecdef9fe505	Leroy @DISEASE$ is a rare autosomal recessive lysosomal storage disorder characterized by marked psychomotor and @PHENOTYPICFEATURE$, skeletal anomalies, and typical facial features.	false
+4ae0fd9ba2e53b30d416ac207c9fd12ed55c9bc6	The clinical characteristics of a 16-year-old white girl with @DISEASE$ included early @PHENOTYPICFEATURE$, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development.	false
+a881665987b156d02e2da4047c3bae57d0fc06f5	The clinical characteristics of a 16-year-old white girl with @DISEASE$ included early growth retardation, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, @PHENOTYPICFEATURE$, and only slightly impaired mental and neurological development.	false
+07235eb82891b023df6bf6bb5fb01f4d30fa4e92	Pathogenic variants of ACAN have been reported to cause @DISEASE$, @PHENOTYPICFEATURE$, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age.	false
+5212e9d89be5be9e8bec7c774070c4d69e5b745d	In the past several years, neurologists are finding new indications to use these dietary treatments, perhaps even as first-line therapy, including infantile spasms, @PHENOTYPICFEATURE$-astatic epilepsy (Doose syndrome), Dravet syndrome, and status epilepticus (including @DISEASE$ syndrome).	false
+97b75c851f71c5e7a07a743035a773a474dcdf74	Consequently, a detailed assessment of the fetal nervous system in the first trimester of pregnancy is no longer a utopia as this kind of evaluation can detect severe malformation such as @DISEASE$, @PHENOTYPICFEATURE$, holoprosencephaly or can draw attention regarding to anomalies currently detected in the second trimester due to certain markers of diagnosis.	false
+8540d0980c1792389c6257af6e87d8302ce79e53	@DISEASE$/anencephaly was the most common defect (nine cases) while the rarest findings were inter-hemispheric cyst, @PHENOTYPICFEATURE$, and Walker-Warburg Syndrome (one case each).	false
+f81cedafdd41086cf203dc27c19bdd2777ce0460	However, D-ribose did produce an asymptomatic, mild @PHENOTYPICFEATURE$ of short @DISEASE$.	false
+57cacd2e8d2d778c7a52eca8638caa254e827441	The patient also had @PHENOTYPICFEATURE$ and hemolysis with a positive direct Coombs' test, both of short @DISEASE$.	false
+fa6481131c56d29148eeea73860b2430dc3e971f	Diagnosis of DRS in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic @DISEASE$ must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital @PHENOTYPICFEATURE$, and congenital or infantile esotropia.	false
+5411a72182f367029ae2af72020e68ed0c2953d1	Diagnosis of @DISEASE$ in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital @PHENOTYPICFEATURE$, and congenital or infantile esotropia.	false
+f9f863ac0714d8559cbe85dd034ac66de8d6ac94	@PHENOTYPICFEATURE$ symptoms and impaired awareness of hypoglycaemia in adults with Type 1 diabetes: the association with diabetes @DISEASE$.	false
+6775a0de28f930728a2b9f95bfce6b1a8ee31110	In patients with DM2, @PHENOTYPICFEATURE$ and diabetes @DISEASE$ contribute to brain atrophy.	false
+5771cd4467ee696deadc89c078f26f8cfabe8706	@PHENOTYPICFEATURE$ symptoms, Hispanic ethnicity, and longer diabetes @DISEASE$ were associated with greater hypoglycemia fear.	false
+5ce31629d4bf9150be5970ed23edd82835bb1395	Secondary endpoints included incidence of CDAD, diarrhea @DISEASE$, stools per day, bloody stools, @PHENOTYPICFEATURE$, abdominal cramping, and bloating.	false
+2928ae4d0fdde712b10894ebd203e7b11f7af749	@DISEASE$ of oral lesions, @PHENOTYPICFEATURE$, eating and drinking difficulties, and viral shedding.	false
+7ab75bf82057fb01463f5ebb316a5aa414700625	Diagnosis of @DISEASE$ in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius' syndrome, congenital @PHENOTYPICFEATURE$, and congenital or infantile esotropia.	false
+c4000f3faee3d3ab988e75a77c7d7275fb869d87	Diagnosis of DRS in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic @DISEASE$ must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius' syndrome, congenital @PHENOTYPICFEATURE$, and congenital or infantile esotropia.	false
+fa84f8f899656e7f71897abf1b322227e30030e3	Chronic lung disease, @PHENOTYPICFEATURE$ @DISEASE$, dysphagia and urinary tract alterations predict infection.	false
+437eddff46fba243a6148848192c935639edec5a	@DISEASE$ has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, @PHENOTYPICFEATURE$ and cleft palate.	false
+bd8e79ff2f4f4cc945c00d99b065f492d16bf8f8	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, Robin sequence, cardiac defects, joint hyperextensibility, and characteristic facial features.	false
+af2eba27b30ae03e6b9849ca860709f203cf0080	All eight individuals with (UPD@DISEASE$ had intrauterine growth restriction, @PHENOTYPICFEATURE$, and prominent feeding difficulties with failure to thrive.	false
+e5da9d70e885b73b6eb3371eb0c1648fae681904	To evaluate the adequacy and effect of preventive antiepileptic treatment in adult patients with the first @PHENOTYPICFEATURE$ in adverse outcomes at 30 days after discharge from the hospital emergency department (@DISEASE$).	false
+47987a8957ac28ef70357737d748c790a141004e	151 (22.7%) patients with a mean age of 55 years old were included with first @PHENOTYPICFEATURE$ discharged from 18 @DISEASE$ with follow-up data.	false
+8e5dddc14f988a87c0d5c0da21fc94b89a08774e	In this report we present the unique combination of @DISEASE$, primary hypothyroidism, and @PHENOTYPICFEATURE$ in a two year old, severely mentally retarded boy.	false
+9746fe93787f0e6bf080dc33dec184f8c6879619	In this report we present the unique combination of @DISEASE$, primary hypothyroidism, and agenesis of the corpus callosum in a two year old, @PHENOTYPICFEATURE$ boy.	false
+9af7acd59b2812713339feff0ad7cb2f3d178bca	@DISEASE$, primary hypothyroidism, and @PHENOTYPICFEATURE$.	false
+641d4a9f48af98f1e959cd02db5943b3de82f722	The main variable was ?adequate preventive treatment according to indications? and the result of ?some adverse outcome? (recurrence of @PHENOTYPICFEATURE$, revisits to @DISEASE$, hospitalization or death) 30 days after discharge from HED.	false
+caa919280ac47936e4aee5bd97d8dd55f556852c	The main variable was ?adequate preventive treatment according to indications? and the result of ?some adverse outcome? (recurrence of @PHENOTYPICFEATURE$, revisits to HED, hospitalization or death) 30 days after discharge from @DISEASE$.	false
+3252a6a776e274bef9ce999dfc662636ce1f06dc	Therefore, adequate preventive treatment could improve the short-term results of adult patients discharged with the first @PHENOTYPICFEATURE$ of the @DISEASE$.	false
+77d477ed0778acdf3ea1743e6455434ded959b50	It is important for genetic counseling to be aware that their male offspring may not only be carriers of CFNS but may also be affected by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7e43347b996f37979dce90d9256518aa532f9143	Multiple ophthalmic abnormalities were found, including hypertelorism, @DISEASE$, epicanthal folds, antimongoloid palpebral fissures, exotropia, @PHENOTYPICFEATURE$, and tortuosity of the retinal vasculature.	false
+400332d0e83b318d9006c7ef8c702047b13932db	Dysmorphic features included @PHENOTYPICFEATURE$ with rhizomelic shortening of limbs, short fingers, narrow chest, high forehead, epicanthal folds, @DISEASE$, broad nasal bridge, low-set ears, sparse hair, and widely space teeth.	false
+8a938afc282867fc89782534a462686502c4786f	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, brittle cornea syndrome, and posterior microphthalmos), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and @DISEASE$, familial retinal arterial macroaneurysms, and spherophakia with @PHENOTYPICFEATURE$).	false
+3be4fb6fcd0216fddcd999f19bc7d8b36832f409	A case of the G syndrome is reported in a baby boy who had an @PHENOTYPICFEATURE$ (prominent forehead, @DISEASE$, posteriorly rotated ears, and anteverted nostrils), laryngeal cleft, hypospadias, cryptorchidism, and psychomotor development delay, possibly secondary to birth asphyxia and numerous medical and surgical complications.	false
+23275bb4c02bd78d61361d7736bc6840bd5a17da	We describe a female patient harboring an intrachromosomal triplication who presented to the Genetics clinic with dysmorphic features, including @DISEASE$, flat facial profile, and prognathism, @PHENOTYPICFEATURE$, widely spaced nipples, multiple allergy complaints, loose bowel movements, and mild speech delay.	false
+e7a1f24c87c096c8cf2443e3c839737e0a72ec2a	Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, @PHENOTYPICFEATURE$, microcephaly, micrognathia, eczema, @DISEASE$, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+016937b49a0f7f5a6d9ff57ef9da5bfc3384a9ab	Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, @PHENOTYPICFEATURE$, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, @DISEASE$, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism.	false
+a03bcd0a0af43bf9d10618cd34f3f0b8b958eeae	The manifestations include low birth weight, @PHENOTYPICFEATURE$, microcephaly, characteristic "square" face with temporal indentations, hypertelorism and/or @DISEASE$, epicanthus with a broad nasal bridge and large nasal tip, and down-turned corners of the mouth.	false
+c5e1a7b6bd718c28d331b4280dd65d4f10a6302a	Dysmorphic features included @PHENOTYPICFEATURE$ with rhizomelic shortening of limbs, short fingers, preaxial polydactyly of left hand, narrow chest, craniosynostosis, dolichocephaly, high anterior hairline, epicanthal folds and @DISEASE$, depressed nasal bridge, low-set ears, and additional ectodermal abnormalities.	false
+02eec20c0342e8627a58fc2d166be703e477a3cc	These patients share similar @PHENOTYPICFEATURE$ with blepharophimosis, @DISEASE$, epicanthus, flat malar region, thin upper lip vermillion, down-turned corners of the mouth, and a poor facial movement/little facial expression.	false
+06686dffb0e34a988ba83946a750df4b3cd71c15	@PHENOTYPICFEATURE$ and slowly progressive ophthalmological symptoms are common features in patients with @DISEASE$.	false
+28fa2b54c500e89325cab40b7cae81457eac8c49	@DISEASE$: report of a 1.5 year old child with @PHENOTYPICFEATURE$ and extensive calcific stippling.	false
+feec4440f1f114564acbe9d9a467cf370dcf827f	These results suggest that the prevalence of @PHENOTYPICFEATURE$ and tinnitus is higher and develop at an earlier age in patients with @DISEASE$.	false
+745cb605bf854eb96e56da1cde08550ff5369dfa	These results suggest that the prevalence of hearing impairment and @PHENOTYPICFEATURE$ is higher and develop at an earlier age in patients with @DISEASE$.	false
+39525237cfe8701e66c963be503b62dcac820a54	Recent evidence suggests that a number of adulthood conditions, including @DISEASE$ (NIDDM) and lipid and @PHENOTYPICFEATURE$ are associated with intra-uterine growth retardation (IUGR).	false
+a3925d46bba91a3d34dcbbc04b096643cb549846	Recent evidence suggests that a number of adulthood conditions, including @DISEASE$ (NIDDM) and lipid and cardiovascular abnormalities are associated with intra-uterine @PHENOTYPICFEATURE$ (IUGR).	false
+be9fdbf3544017d451e6119e27ac4c60f3566393	@PHENOTYPICFEATURE$ and @DISEASE$: interacting epidemics.	false
+13ea6e11313078f410905629d1767c4a4554b5bd	Initial test results indicated a diagnosis of microcytic anemia, hypomagnesemia, @PHENOTYPICFEATURE$, hypocalcemia, hyperglycemia, @DISEASE$, and severe heart failure.	false
+dad300fd2a859316c524a0a99c091f4d07a9b37b	Initial test results indicated a diagnosis of microcytic anemia, hypomagnesemia, hypokalemia, @PHENOTYPICFEATURE$, hyperglycemia, @DISEASE$, and severe heart failure.	false
+0a02aff5cbcc79800992a3cd3f618d61456293c6	Initial test results indicated a diagnosis of microcytic anemia, hypomagnesemia, hypokalemia, hypocalcemia, hyperglycemia, @DISEASE$, and severe @PHENOTYPICFEATURE$.	false
+1b19bdf2b9b405fb6d8cf65d534b79c8b87e1452	[@DISEASE$ associated with pancreatic and @PHENOTYPICFEATURE$].	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+fdd8cdcdd4bd14ac636dde62012fbaaffb3bcca5	@PHENOTYPICFEATURE$ and mortality in patients with @DISEASE$.	false
+3831d4af772f0a0588ff89d929cf7f191f7f4e02	[@PHENOTYPICFEATURE$ and tinnitus in patients with @DISEASE$].	false
+b6803c4961c897fbcd1db6b9a5bdf1ce98d303c8	[Hearing impairment and @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+471b9eed8b2737beceffb9c69af62701a77853f7	@PHENOTYPICFEATURE$ and incident @DISEASE$.	false
+df9650802202c22054d010e33136fa0706a08fc1	Infants born to these mothers are at higher risk for macrosomia and birth trauma, and after delivery, these infants have a higher risk of developing hypoglycemia, @PHENOTYPICFEATURE$, hyperbilirubinemia, respiratory distress syndrome, polycythemia and subsequent obesity and @DISEASE$.	false
+fd427a8bd576f26e5505e4d0f51673c9238a32f8	Infants born to these mothers are at higher risk for macrosomia and birth trauma, and after delivery, these infants have a higher risk of developing hypoglycemia, hypocalcemia, @PHENOTYPICFEATURE$, respiratory distress syndrome, polycythemia and subsequent obesity and @DISEASE$.	false
+ab68f3ead591086b4ce164e9850eeb3cff8e05a8	Infants born to these mothers are at higher risk for macrosomia and birth trauma, and after delivery, these infants have a higher risk of developing hypoglycemia, hypocalcemia, hyperbilirubinemia, respiratory distress syndrome, polycythemia and subsequent @PHENOTYPICFEATURE$ and @DISEASE$.	false
+bc621ff1f4b8061e3774450cbf33a86206f59308	They also should be counseled to modify risk factors such as smoking, alcohol use, overweight and @PHENOTYPICFEATURE$, and travel to countries where @DISEASE$ is endemic.	false
+21e410cae854f97cf0e933961700f5c4da88a346	Congenital @DISEASE$ syndrome includes a myriad of abnormalities, including microcephaly, lissencephaly, @PHENOTYPICFEATURE$, arthrogryposis, and parenchymal calcifications.	false
+0a7db853cae5c0da55fc856f434fa700a27c6a2d	To describe the clinical features and imaging findings in 24 patients with congenital @DISEASE$ syndrome (CZS) who developed @PHENOTYPICFEATURE$.	false
+76bee655fe17f7d9d10f72f82b1694b01691d274	A previous study in Brazil reported an increased incidence of non-severe @PHENOTYPICFEATURE$ in infants with diagnosis of congenital @DISEASE$ syndrome but without laboratory confirmation of ZIKV infection in the mother or infant.	false
+f7388916006abb9a8c40b07545fa6092c5c019d6	@DISEASE$ during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, @PHENOTYPICFEATURE$, and limb contractures (1).	false
+52af1e2ceb2b7810af8030beebd9d22d529ee83a	Reply to the letter by Joob and Wiwanitkit regarding our article on congenital @DISEASE$ syndrome and @PHENOTYPICFEATURE$.	false
+81a59c215337be572041c4464b2674b4eea75279	Guillain-Barr? syndrome associated with @DISEASE$ in C?cuta is characterized by a high frequency of cranial nerve involvement, @PHENOTYPICFEATURE$ and requirement of mechanical ventilation indicating an aggressive and severe course.	false
+5021e2bb8f581d55e3e1856f6b8443c8ddcc1af7	It has been reported that some scleroderma patients developed rapid progressive glomerulonephritis due to @DISEASE$ in addition to the typical @PHENOTYPICFEATURE$ renal crisis.	false
+e67f71dc495966231b861abed97abf8e303571b9	We present a patient with @DISEASE$ caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and @PHENOTYPICFEATURE$ at birth.	false
+d26fcdaca6d0e270ede29b4bc569da8276421226	She had initially presented with failure to thrive, proportional @PHENOTYPICFEATURE$ as well as @DISEASE$ (AIHA), which responded well to treatment with prednisolone.	false
+a263a343a7d48482b8f366f1017969ad51095400	She had initially presented with @PHENOTYPICFEATURE$, proportional microcephaly as well as @DISEASE$ (AIHA), which responded well to treatment with prednisolone.	false
+27390e83f5fc4c679bf08540cc41eba209b9672c	Dextroamphetamine sulfate was used to treat @PHENOTYPICFEATURE$, myalgia, and chronic fatigue associated with autoimmune hepatitis (@DISEASE$).	false
+f5a8c80b992545bd9f18bf070a885287164db225	A second variant, AHS/9PI, resulted in signs and lesions typical of the cardiac form of @DISEASE$: pericardial effusion, subendocardial hemorrhage and widespread subcutaneous @PHENOTYPICFEATURE$.	false
+dfeed1c44cb9c88f92c339856d407d2fa01c2205	We report on a 6-month-old child presenting with chronic diarrhea, @PHENOTYPICFEATURE$, eczema, @DISEASE$ (AIHA), insulin-dependent diabetes mellitus (IDDM), hypoalbuminemia, and proteinuria.	false
+b15ef46befbaa6b999dbe19638a2c74ffb330586	@DISEASE$ (WARBM1) is a severe autosomal recessive disorder characterized by developmental @PHENOTYPICFEATURE$ and central nervous system and by microgenitalia.	false
+3d2d1ab669affd28652cd8aa55c3c974f4d35647	@DISEASE$ (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic @PHENOTYPICFEATURE$, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys.	false
+eb423eb031afd21641a3f836485a8553b72cc715	@DISEASE$ syndrome in a pregnant woman with systemic lupus @PHENOTYPICFEATURE$.	false
+4d5a60b6954dd5babb98d94a163cda9e76f7ce30	This simple procedure may prove advantageous in a wide range of skin diseases, including genodermatoses (@DISEASE$), infections (mainly herpetic infections, molluscum contagiosum, leishmaniasis), immune disorders (early oral pemphigus) and @PHENOTYPICFEATURE$ (basal and squamous cell carcinomas, Paget disease, erythroplasia of Queyrat, and others).	false
+a3c8ef35475f8b5786d0e1ee33fc927274db5c17	We report the atypical phenotype of a boy with @DISEASE$, characterized by mild mental retardation and drug-resistant @PHENOTYPICFEATURE$ with onset at the age of 6 years, without movement disorders nor decrease of head circumference.	false
+61925a5c6d49f5bc2730f245c85053934841fa55	Clinical manifestations of hepatic @DISEASE$ included fever, hepatomegaly and @PHENOTYPICFEATURE$, while those of pulmonary hydatidosis included cough, haemoptysis and fever.	false
+22a7e6c01dfd3fbfdfb0c578e16f4bf181ccca1c	Effective prevention and control strategies are needed for diseases with the highest incidence-including hand, foot, and mouth disease, hepatitis B, and tuberculosis-and those with the fastest rates of increase (including @DISEASE$, @PHENOTYPICFEATURE$ C, and syphilis).	false
+73820939eef39abe19c3c76b48b3666c7e479635	Acute pancreatitis is a rare complication of @DISEASE$, and the successful use of endoscopic sphincterotomy in the treatment of pancreatitis complicating ruptured hydatid cyst has been very rarely reported.We report here a case of a 50-year-old man, known to have hydatid cyst of the liver, who presented with upper @PHENOTYPICFEATURE$.	false
+8bfb5650b155146c4e629c23f764c7adfe41dd69	Focal or multifocal cystic lesions include blebs, bullae, pneumatoceles, congenital cystic lesions, traumatic lesions, and several infectious processes such as coccidioidomycosis, Pneumocystis jiroveci @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b826dde994f085d31df0acaaed167d7d68578516	Clinical features of @DISEASE$ associated with congenital @PHENOTYPICFEATURE$.	false
+c2006f9bcf2197a7cee351a78621077160624996	Thus, this article informs on key variants in transcription factor genes linked to cataract, aphakia, @PHENOTYPICFEATURE$, glaucoma, microcornea, microphthalmia, @DISEASE$, and Ayme-Gripp syndrome, and facilitates their access through Web-based databases.	false
+a90074f1f51fe7cedcc1a0ea0ff83992e860d9ad	@DISEASE$ is one of the main causes of congenital @PHENOTYPICFEATURE$.	false
+9fbbe16b1e9dc075daebd21bbe86f2cc74b5ef01	A spontaneous incidence of eye malformations including microphthalmia, microphakia, @PHENOTYPICFEATURE$ and @DISEASE$ was observed at a rate of 13.2% in the adults and 10.8% in the day 14 embryos.	false
+cee25b467108f824acf800ef585a7734a4c2356f	The infant had bilateral @PHENOTYPICFEATURE$ and findings suggestive of @DISEASE$.	false
+e02783d73d333233f8279414dfd4ba603751a7dc	@DISEASE$ is a rare lethal and autosomal recessive condition which has been first reported in 1981 in three siblings presenting intrauterine growth retardation, a poorly mineralised calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, @PHENOTYPICFEATURE$ and absent clavicles.	false
+564506982021945e2e935ff657fba903f65714b8	This report, to our knowledge, is the first demonstration that gene-mediated immunotherapy (GMIMPR) enhances the efficacy of MRT for advanced 9@DISEASE$ @PHENOTYPICFEATURE$.	false
+d8f6a44e44bdfa4cd24bc79919911dbc0d322b6e	Here, we describe autosomal recessive mutations in KPNA7 found by whole exome sequencing in a sibling pair with severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with @DISEASE$, partial agenesis of the corpus callosum, and @PHENOTYPICFEATURE$.	false
+d6346360f50ca72192a967ff5d8d08ebb022185f	Next-generation sequencing was used to analyze this patient's tumor as well as an additional 28 SB/@DISEASE$ @PHENOTYPICFEATURE$.	false
+fed8b1a661d01f34459426dfcaa33d14ca64c764	Next-generation sequencing was used to analyze this patient's @PHENOTYPICFEATURE$ as well as an additional 28 SB/@DISEASE$ tumors.	false
+8e4f4f8a73190185479987ffb3c5a45cc9dab73a	Of 75 samples examined, 56 tumors (75%) had SB histology, and 19 @PHENOTYPICFEATURE$ (25%) had @DISEASE$ histology.	false
+8346ea095c1c99853e4a3965c952fef23ef9adca	Of 75 samples examined, 56 @PHENOTYPICFEATURE$ (75%) had SB histology, and 19 tumors (25%) had @DISEASE$ histology.	false
+f66f42e091bb80e15ea50ba8af014d60a83d92c4	BRAF and KRAS mutations are common in serous borderline (SB) and @DISEASE$ ovarian cancers, and MEK inhibition has been shown to induce @PHENOTYPICFEATURE$ regression in a minority of patients; however, no correlation has been observed between mutation status and clinical response.	false
+a982894e20bcf6ad2a1b0faf2f945a6caf80e7c0	Microbeam radiation therapy (MRT), a novel experimental radiosurgery that largely spares the developing CNS and other normal tissues, is tolerated well by developing animals and palliates advanced 9@DISEASE$ @PHENOTYPICFEATURE$.	false
+903fd678f160f247544ed8ca0d742dd129e80764	By d14, the cells had generated approximately approximately 40 mm3 ic 9@DISEASE$ @PHENOTYPICFEATURE$, experimental models for therapy of moderately aggressive human malignant astrocytomas.	false
+b5dc053748b189a59cbfcfeb5103857dcbe9a553	The clinical syndrome of slowly progressive proximal limb and limb girdle @PHENOTYPICFEATURE$ and atrophy, or limb girdle syndromes (@DISEASE$), has a diverse aetiology.	false
+8d59d509b941bd5cb098322b6db8c88af44b33ff	The authors concluded that patients with SB/@DISEASE$ ovarian cancer who require systemic therapy are unlikely to have BRAF mutant @PHENOTYPICFEATURE$.	false
+15705592cbb620e662aa9d58aea55a9ceafd67ce	We describe a drug resistant @DISEASE$ patient with daily seizures and a left parietal dysembryoplastic neuroepithelial @PHENOTYPICFEATURE$.	false
+e7792f6aa65815f122bb7074809d6b70793a41e7	The following postictal changes of the ADC were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized @DISEASE$ changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+8fa2f33a0f7e63b9ed9e1c1ad864f9ac2d8607e3	The following postictal changes of the @DISEASE$ were seen: (a) decreases by maximally 25-31%, which were most pronounced in the epileptogenic zone (n = 2); (b) generalized ADC changes after @PHENOTYPICFEATURE$ (n = 1) or prolonged complex partial seizures (n = 2); (c) no major changes after short-lived seizures or if the time to first DWI scan was >15 min or both (n = 3); and (d) widespread bilateral ADC increases after a flumazenil-induced seizure (n = 1).	false
+95a1d527ef6ef09f3fedc88254638580ba369e0f	Patients with @DISEASE$ referred to Immunology, @PHENOTYPICFEATURE$ and Allergy Research Institute between Jan 2007 and Dec 2010 enrolled the study.	false
+5933d088a02c17f1ca2c586dea4849fb09c321e6	To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and @PHENOTYPICFEATURE$, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of @DISEASE$.	false
+f8784fc76074185affa4e7448fbd2ddbb94ba9d9	We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, @PHENOTYPICFEATURE$ in both eyes, and Marfanoid body proportions diagnosed @DISEASE$.	false
+f00abcbc81ce431be5b5a24fd9790270aeb25205	These similarities can be used in the search for and design of effective pharmacotherapy for AD, since potent therapeutic agents such as insulin, incretins, oral @PHENOTYPICFEATURE$ agents and antioxidants used in the management of DM may play a key role in the treatment of patients with @DISEASE$.	false
+5258c970aaf0b6650283bcab8b0a47d4f6b2f50f	These similarities can be used in the search for and design of effective pharmacotherapy for @DISEASE$, since potent therapeutic agents such as insulin, incretins, oral @PHENOTYPICFEATURE$ agents and antioxidants used in the management of DM may play a key role in the treatment of patients with AD.	false
+1c7b8d6c39e6df745fa12aba7d468a834a089234	Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (gamma c), 16 had adenosine deaminase (@DISEASE$) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive @PHENOTYPICFEATURE$, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type.	false
+4d28dc115c259ae4211188a32977b84e627a1395	Functional assays demonstrated that @DISEASE$ significantly inhibited @PHENOTYPICFEATURE$ cell proliferation and tumorigenesis both in vitro and in vivo with no observed side effects.	false
+031c4cf18228d7530a409c058954a9c3b85743e9	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (@DISEASE$), amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$ (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (MD), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+4f02aa34c264c228e245bb3057030acd03c97d6d	The reviewed literature on weight loss, @PHENOTYPICFEATURE$, diabetes, cancer cachexia, disuse atrophy, motor neuron disease, myotonia, inflammatory myopathies, @DISEASE$, muscular dystrophies and sarcopenia of old age suggests that proteome-wide alterations occur in the expression of distinct protein families, encompassing especially contractile and regulatory proteins of the acto-myosin apparatus.	false
+f2536584f27112c31e02e2c5bb4a9e33827f77c3	High-intensity drinking (@DISEASE$; ie, having 10+ drinks in a row) is a recognized public health concern due to the individual and public risks (eg, alcohol-related injuries, alcohol poisoning, @PHENOTYPICFEATURE$, sexual risk) associated with consumption of a large quantity of alcohol over a relatively short time period.	false
+b0526bcd2ebe1fe3e57e18ce3b38b07960530ce5	The exenterated mastoid behind an intact posterior ear canal wall is one of the preconditions for the development of @DISEASE$ @PHENOTYPICFEATURE$ recurrences.	false
+ee6eb587197447b7efa50514e860e81b89ddc9e4	The differential diagnosis for this lesion includes, but is not limited to, pulmonary @PHENOTYPICFEATURE$, pulmonary blastoma, adenomyofibroma, @DISEASE$, and visceral metastases.	false
+9dbec0ef5ca165b573e7b82071e2c491ef296d7c	However, continuous treatment of MIH-2-bearing mice with CYP2J peptide significantly suppressed IFN-gamma production of splenocytes and accelerated the growth of implanted @DISEASE$-2 @PHENOTYPICFEATURE$ in vivo.	false
+d39b537ef4eef1ef2fd74e30707ce610f0fe1cfe	The growth of implanted @DISEASE$-2 @PHENOTYPICFEATURE$ was significantly suppressed by IL-12 and the suppression was inhibited by depletion of CD8(+)T cells.	false
+4f836e62c237e18093962e8d06424b97f6d027e1	Only appropriate @DISEASE$-allogeneic @PHENOTYPICFEATURE$ cells were lysed as the target of the cytotoxic activity.	false
+1067e0a8b5a7b55b90944698e9d5feeda75f94dc	Antigenic requirements for inducing minor histocompatibility antigens (MIHA)-specific T cell immunity for second set rejection (SSR) of a @DISEASE$-allogeneic @PHENOTYPICFEATURE$ were studied.	false
+2b1beef7990424f6cb7fd54e5d6f72910609e202	IL-12 treatment caused numerous IFN-gamma-producing CD8(+)T cells to infiltrate into @DISEASE$-2 @PHENOTYPICFEATURE$.	false
+c8701f260c1082d65cd28f414786c2b4a37d0075	The @DISEASE$ is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and @PHENOTYPICFEATURE$.	false
+147f548216fa3cd93025808c39b73354ebb08399	An autopsy case of stunted growth with fatty liver cirrhosis, @DISEASE$, @PHENOTYPICFEATURE$, osteoporosis and lipid pneumonia.	false
+ab1a018e571464d7666a7858d1f4166e95bd0373	Of 40 patients analyzed, 65% were male, 50% had @PHENOTYPICFEATURE$ C, and 27.5% had @DISEASE$.	false
+f045283c61dc79978cafbfdc98bd37f03cf43e62	The Changing Face of @DISEASE$: Forecasting Prevalence of Nonalcoholic Steatohepatitis and @PHENOTYPICFEATURE$ C Cirrhosis.	false
+23978f85d0028e6991933d6be8c15dafed00de14	These polymers form the intracellular inclusions that are associated with neonatal @PHENOTYPICFEATURE$, cirrhosis, and @DISEASE$.	false
+fff5de603eef22d2492c7d0ffe518a04dba0e74e	Quantitative variation in immunoglobulin G (Igsr-1) in LEC rats associated with spontaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c4328d69b866ff55c40867e2ccdaf3e6492773f8	These inclusions are associated with neonatal @PHENOTYPICFEATURE$, cirrhosis and @DISEASE$.	false
+3509d962eeab24fdb130cfb84f5c5bc867f57289	Prognostic impact of hepatectomy for patients with non-hepatitis B, non-@PHENOTYPICFEATURE$ C @DISEASE$.	false
+573cb8ae0c01395741583d83976a4a5fae9d76eb	Genetic linkage between copper accumulation and @PHENOTYPICFEATURE$/@DISEASE$ development in LEC rats.	false
+7435775d8af05fa201eae4db3c8a3a5fab6e14d7	@PHENOTYPICFEATURE$ C, nonalcoholic steatohepatitis, and @DISEASE$ were the most common indications for LT in recent recipients.	false
+66e26108afb6bd2042801aefef7262334152bf19	@PHENOTYPICFEATURE$ C is a frequent cause of liver cirrhosis and, @DISEASE$ worldwide.	false
+4384ba4a307655b686c65d00318f86125abb2380	Offspring did not show congenital @DISEASE$ syndrome (e.g., microcephaly, brain calcifications, congenital @PHENOTYPICFEATURE$, arthrogryposis, seizures) or other visible birth defects.	false
+bc3eeb33b8ffd7a03605032119e392c1e07325b5	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including @PHENOTYPICFEATURE$, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+aca6ca3a1bac78d4e41aae82ec07eedfaf0f819b	The second patient, a previously healthy female, 16 years of age, presented classic symptoms of @DISEASE$ fever, but later developed severe thrombocytopenia, @PHENOTYPICFEATURE$ and hemorrhagic manifestations and died.	false
+b14eb9c0b940d6766662a5aeb064baa4090f0f19	@PHENOTYPICFEATURE$ in children with congenital @DISEASE$ syndrome.	false
+fa9c22387aed35df09254381d36aa02833d72d8b	The earliest sign of congenital @DISEASE$ syndrome was @PHENOTYPICFEATURE$, which in two patients was noted first at 19 weeks of gestation.	false
+bcafa0380dfaae68649b2c2ad8977a2640d793ba	Diagnostic @PHENOTYPICFEATURE$ in @DISEASE$: four new patients with del (17)(p11.2p11.2)	false
+363fa6c5cbcfe06005facb65da2c777f6e6fc7e6	@DISEASE$ (SMS) is a developmental @PHENOTYPICFEATURE$/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1.	false
+bb34966e74628145fbd872e81055f59cd594e3b4	Posterior @PHENOTYPICFEATURE$, @DISEASE$ and optic disc drusen with white dots.	false
+d9c6d71b5ac72c721a58689b84c9d74384cf5794	Mutations within genes affecting eye development and retinal function cause a host of degenerative visual diseases, including @DISEASE$ and @PHENOTYPICFEATURE$/microphthalmia.	false
+40724640df25ac86267a753d3c6370eb8290bf63	Mutations within genes affecting eye development and retinal function cause a host of degenerative visual diseases, including @DISEASE$ and anophthalmia/@PHENOTYPICFEATURE$.	false
+4f71d4c7b24a2513d31327213e063eb53340768f	Letter: @DISEASE$ and @PHENOTYPICFEATURE$ in Africans.	false
+79c26703dc4a862929bdc412fc488a766d682a0e	X-linked @DISEASE$ (XLRP) is a genetically heterogeneous @PHENOTYPICFEATURE$.	false
+94411e929502a33141941a480b77b6d679f0800e	@DISEASE$ is a bilateral @PHENOTYPICFEATURE$.	false
+a6315ffbfc6f8d6a1502591b304cc08aa4f1b56e	RPGR-associated @DISEASE$ (RP) is a progressive disease with @PHENOTYPICFEATURE$.	false
+a5174b71270c8fba942c298ae0ad81844b6ec41c	@DISEASE$ (RP) is a hereditary genetic disease causing bilateral @PHENOTYPICFEATURE$.	false
+7e581d106d50f5205067117f022b339559e8750c	[The @PHENOTYPICFEATURE$-@DISEASE$-glaucoma syndrome].	false
+0261815481d98f966d86f9f5413fc6cb591cd7f3	@PHENOTYPICFEATURE$ and @DISEASE$ ensue because of neuronal and photoreceptor apoptosis.	false
+0d17a4ebb1149b8e1a60f959910228c14a1cf379	Usher syndrome associates profound congenital deafness and @PHENOTYPICFEATURE$ with @DISEASE$.	false
+1a2f5339c879e1024eb260fba272c4d2d52301e4	Nutrition supplementation is required for many patients with @DISEASE$ due to symptoms of dysphagia, nausea, @PHENOTYPICFEATURE$, and weight loss.	false
+ce5817052f8344232453631f31a92a47a11be2b6	In addition to aggressive management of patients with @DISEASE$ who develop respiratory failure, careful respiratory evaluation before and after gastric lavage would help to decrease the incidence of early onset @PHENOTYPICFEATURE$ in patients with CIP.	false
+8cc1070fb18883e5bc0b258413ea03f0027db3ee	had HCC in @PHENOTYPICFEATURE$ (3), @DISEASE$ (3), tyrosinemia type 1 (2), complications of choledocal cyst and glycogen storage disease type IV (1 each).	false
+1d7dd8af67989fed1406ecda67fec4880fb36aa4	X-linked @DISEASE$ is a @PHENOTYPICFEATURE$ mainly affecting the vertebrae and epiphyses and commonly associated with the early development of degenerative joint disease.	false
+0305b37c72d3653c32c8017e5d3a12131d7e2859	Progressive pseudorheumatoid dysplasia is an inherited @PHENOTYPICFEATURE$ with radiographic changes notably in the spine, similar to @DISEASE$.	false
+91f19633d68f6e29477dedb2149efb7d93d79bb1	Progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or progressive pseudorheumatoid arthropathy of childhood (PPAC) (MIM 208.230)) is an autosomal recessively inherited @PHENOTYPICFEATURE$ with changes in the spine similar to @DISEASE$.	false
+db735d0b9edbe38199119d7139a2790fad7aa953	Progressive pseudorheumatoid dysplasia (@DISEASE$ with progressive arthropathy (SEDTPA) or progressive pseudorheumatoid arthropathy of childhood (PPAC) (MIM 208.230)) is an autosomal recessively inherited @PHENOTYPICFEATURE$ with changes in the spine similar to spondyloepiphyseal dysplasia tarda.	false
+4c7bbb5348bfc7cc79b21bed1228e5c6d94f3538	@DISEASE$ with progressive arthropathy is a form of inherited @PHENOTYPICFEATURE$ involving the axial skeleton along with swelling and deformities of the peripheral joints that mimics juvenile rheumatoid arthritis.	false
+66d733bf23a1dbca992ef459812305fa9f4d7c4e	The X-linked form of @DISEASE$ (SEDL), a radiologically distinct @PHENOTYPICFEATURE$ affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene.	false
+9c3b5c2cb01da91c7c2c324327adb1ada0e75df1	As this is the hallmark of @DISEASE$ and related forms of @PHENOTYPICFEATURE$, the absence of platyspondyly refutes axial dysplasia and disproportionate dwarfism.	false
+6a64ea7364dd98456572ffa0be326ebf68e1276f	SEDT (@DISEASE$) is a late-onset X-linked recessive @PHENOTYPICFEATURE$ caused by mutations in the gene SEDL coding for sedlin.	false
+1249e6be6e9f604e36fb67b614e3edd0429f349a	Based on this symptom complex, the differential diagnosis of @DISEASE$, an extremely rare form of @PHENOTYPICFEATURE$, has been proposed.	false
+f420a943eff8b725196b1e53289b927f352602a5	@DISEASE$ with progressive arthropathy (SEDT-PA) is an autosomal recessively inherited @PHENOTYPICFEATURE$.	false
+8c0bb00e7f3aec2ef8581d9e5dc2e3090803a641	@DISEASE$ with progressive arthropathy (SEDT-PA) is a rare autosomal recessive @PHENOTYPICFEATURE$ affecting primarily the articular cartilage.	false
+e596e37d28757a8289f2d0a1d7fd4ebf9b9f3626	A 28-year-old male with @DISEASE$ associated with continuous @PHENOTYPICFEATURE$ during mild daily activities is reported.	false
+b9581c0fa10cb785aee2c20039b2d116794f7c71	Extreme microcephaly, severe growth and @PHENOTYPICFEATURE$, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of @DISEASE$?	false
+a2ae52b5245fe13df06963885214cf67b16bdddb	Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from @DISEASE$, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and @PHENOTYPICFEATURE$ as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end.	false
+ee27fef52fe3e56111a3e7d34ae1e3a9009b0361	Manifestations of @DISEASE$ (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, @PHENOTYPICFEATURE$, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997).	false
+245eb91a70d95dca8bfd2dff793050ad3b218b4f	We describe a patient, with previously undiscovered @DISEASE$, who presented with severe neck and face @PHENOTYPICFEATURE$, dysgeusia, oculosympathetic paresis, and markedly reduced facial sensation due to a spontaneous vascular dissection.	false
+079e617d3b1dda37fe5266c68b50c0c6b9c587e0	We report an even rarer case of cholesteatoma in the sellar region-a challenging diagnosis guided by clinical presentations, radiological signs, and biopsy, aiming at emphasize the importance of considering @PHENOTYPICFEATURE$ when making differential diagnoses of sellar lesions.We present a case of cholesteatoma in the sellar region in a 56-year-old man with @DISEASE$, diabetes insipidus, and cystic imaging findings.	false
+e7ae6662000c04966f0c3331edb3e5b286129c7a	We report an even rarer case of cholesteatoma in the sellar region-a challenging diagnosis guided by clinical presentations, radiological signs, and biopsy, aiming at emphasize the importance of considering cholesteatoma when making differential diagnoses of sellar lesions.We present a case of @PHENOTYPICFEATURE$ in the sellar region in a 56-year-old man with @DISEASE$, diabetes insipidus, and cystic imaging findings.	false
+643b34d8c2158dcb8af95f8868d89998fa592b56	We report an even rarer case of @PHENOTYPICFEATURE$ in the sellar region-a challenging diagnosis guided by clinical presentations, radiological signs, and biopsy, aiming at emphasize the importance of considering cholesteatoma when making differential diagnoses of sellar lesions.We present a case of cholesteatoma in the sellar region in a 56-year-old man with @DISEASE$, diabetes insipidus, and cystic imaging findings.	false
+beaee5883b99490e8307c7bab7747f64b5a6e59e	Of these 40 studies, we identified four modalities for intervention (i.e., lifestyle, dietary, pharmacotherapeutic, or surgical) within six clinical domains (i.e., psychosocial disorders, hyperphagia, @PHENOTYPICFEATURE$, decreased energy expenditure, hyperinsulinemia, and @DISEASE$).	false
+95edb5ee91b998c48d55c25b574dc54bd757bbac	The patient had dysmorphic findings that are predominantly seen in del(18p) syndrome such as low nasal bridge, wide mouth, large ears, high forehead, @PHENOTYPICFEATURE$, upturned nostrils and @DISEASE$ (TSH, ACTH, and GH deficiencies, and pituitary hypoplasia on magnetic resonance imaging).	false
+3693d418a45c0726d9b3bb0674504a5ba7b39938	@DISEASE$ and skin pigmentation associated with malignant hypertension and an intrasellar @PHENOTYPICFEATURE$.	false
+cee1632a670a50d0943bf7401ef3d21215d72074	Defects in the hypothalamus or pituitary gland can cause reduced growth and @PHENOTYPICFEATURE$, affecting approximately 1 in 4000 children, and a large percentage of cases of @DISEASE$ do not have an identified genetic cause.	false
+cb08d87b99be15155fa8ffd85d43691f9ee2766a	Report of a 61-year-old man with @PHENOTYPICFEATURE$ and flexion contractures of abdominal muscles and legs as initial signs of @DISEASE$.	false
+82dd89be0d28597128d6892f19d2620f028119e7	We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to @PHENOTYPICFEATURE$, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and @DISEASE$.	false
+d49ce368729418fa55c0ac7c3f5f70670afaa8fc	We report on the clinical and molecular characterization of the fourth complete PROP1 deletion in a girl with @PHENOTYPICFEATURE$, combined @DISEASE$ and a suprasellar mass mimicking a hypothalamic glioma.	false
+fa25cd98cffc31c38b0d756bbe45a0d95c372f07	Characteristic manifestations include failure to lactate or to resume menses, genital and axillary hair loss, asthenia and weakness, fine wrinkles around the eyes and lips, signs of premature aging, dry skin, @PHENOTYPICFEATURE$ and other evidence of @DISEASE$.	false
+4da9556721fbbfe5927cdd85c23ef35201ac3fe0	Additionally, time to AE onset of symptoms post administration was short in meningitis (median 21?days), MG (median 28?days), myositis (median 28?days), and encephalitis/myelitis (median 32.5?days), while it was longer in @PHENOTYPICFEATURE$ (median 42?days), hypophysitis (median 94?days), and @DISEASE$ (median 112?days).	false
+7154563efb4e135130859ea7d90dcd619d3d7fe9	We describe a fetus with @DISEASE$ (PLSD-T), a rare skeletal dysplasia characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	false
+0e67cd4d64ed899ad5d2b030106e0537040bf687	We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (@DISEASE$), a rare skeletal dysplasia characterized by platyspondyly, extremely @PHENOTYPICFEATURE$, and mild brachydactyly.	false
+5dcf937ff4c1fcb90558c07dc15f8ad8057d2d22	@DISEASE$ (MWS) is an inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and @PHENOTYPICFEATURE$.	false
+00468fbcfe0b7164f07232bf816a3828b1a7f215	Resolution of unilateral @PHENOTYPICFEATURE$ in a pediatric patient with a severe phenotype of @DISEASE$ treated with Anakinra: a case report and review of the literature.	false
+1c04050cb85f2ac644be4fbae366d2c60b32993d	Among these three entities, @DISEASE$ is described as an intermediate phenotype associated with a progressive @PHENOTYPICFEATURE$ and AA amyloidosis.	false
+a337f72bae491d8b795410e9ee442a190e3eedfc	@DISEASE$ (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, @PHENOTYPICFEATURE$ and potentially life-threatening amyloidosis.	false
+bc5d3f4afa0568928297dc9dd20487285aa491ac	@DISEASE$ (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, @PHENOTYPICFEATURE$, and the possible development of systemic AA amyloidosis.	false
+b4769fe4d32d64aa8263eacb21150f5a895a6290	Early detection of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+89d8ecc85524db59731891b6656b3ee1e26b41e4	Early canakinumab therapy for the @PHENOTYPICFEATURE$ in a family with @DISEASE$ due to a novel mutation of NLRP3 gene.	false
+ffa4ab85f52c539f29fe3841f600b4f78c78032a	@DISEASE$ (MWS) is an autoinflammatory disease characterized by excessive interleukin-1 (IL-1) release, resulting in recurrent fevers, @PHENOTYPICFEATURE$, and amyloidosis.	false
+6684d1f80021762e46cd239c51662fd68c4fd0cb	The term @DISEASE$ (MWS) describes an autosomal dominant disorder characterised by various combinations of urticaria, @PHENOTYPICFEATURE$, amyloidosis, arthralgia and skeletal abnormalities.	false
+8ebfad87ead83b904221fd89b9cad323572eba59	Successful treatment of acute @PHENOTYPICFEATURE$ in @DISEASE$ with interleukin 1 receptor antagonist.	false
+915eb61f8cc4f2eec975293fd64ce807a5cb2152	In both cases patients presented with ascites, @PHENOTYPICFEATURE$, increased blood pressure and @DISEASE$.	false
+6507dfc45201114067af38fd712feead0be8f7ca	This case calls into question the best treatment approach for patients with severe @PHENOTYPICFEATURE$ after laxative cessation who do not meet criteria for Pseudo @DISEASE$.	false
+7a08a2bb3142268b08829da99c701e86a166e0d6	[Hypertrophy of the juxtaglomerular apparatus with hyperaldosteronism and potassium depletion, without hypertension, or @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+1904232ca069414f495cc446dc77ce4f2484aaa3	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of scleroderma renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in @DISEASE$ and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+abd9d29cee8409eddf220cc904c015907c132c8a	Paraneoplastic hypercorticism appears either as a fullfledged Cushing's syndrome with adiposity of the trunk, moon face and striae or as a biochemical form with @DISEASE$, adynamia and @PHENOTYPICFEATURE$.	false
+f162c525dc4005a64e474b2285636276667dca63	@DISEASE$ presenting with @PHENOTYPICFEATURE$ and multiple stroke-like episodes in a 17-year-old male.	false
+42dcdd90e125744964e246b284ca4a29e5dccfe2	Intermittent benzodiazepines have been recommended in managing breakthrough @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6824130eb7712d1d3555324c40ac60e142cbe20b	Functional hemispherectomy was performed in a 4-year-old girl with @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+64674c93a5f6d36d4ec496748e9a276569d221da	@DISEASE$ is a heterogeneous syndrome that should be considered in patients with early-onset progressive cortical @PHENOTYPICFEATURE$ regardless of liver involvement.	false
+131ba7536401816150e679427d88a79b300ba2ad	Previous studies of Ammon's horn sclerosis (AHS) suggest that @DISEASE$ is both the result of and the cause of @PHENOTYPICFEATURE$, and support the idea that seizures cause alterations in cell numbers and location.	false
+2f5fcb89c0537e301e05242efa610b364a9082d7	Previous studies of Ammon's horn sclerosis (@DISEASE$) suggest that AHS is both the result of and the cause of seizures, and support the idea that @PHENOTYPICFEATURE$ cause alterations in cell numbers and location.	false
+c1d8278d57f554ad3d880ab7da35bf2b13821e11	Previous studies of Ammon's horn sclerosis (@DISEASE$) suggest that AHS is both the result of and the cause of @PHENOTYPICFEATURE$, and support the idea that seizures cause alterations in cell numbers and location.	false
+5062f397b63a34dd097ed1632c6075386876dd11	Previous studies of Ammon's horn sclerosis (AHS) suggest that @DISEASE$ is both the result of and the cause of seizures, and support the idea that @PHENOTYPICFEATURE$ cause alterations in cell numbers and location.	false
+783bc06a1739d4b16e99c0a71bf1da529d763c61	Significant clinical, genetic, pathologic, and experimental studies of Ammon horn sclerosis (@DISEASE$) suggest that AHS is the result and cause of @PHENOTYPICFEATURE$.	false
+a86e633562a6092ffa2595d2fede45d1cd77ded1	Significant clinical, genetic, pathologic, and experimental studies of Ammon horn sclerosis (AHS) suggest that @DISEASE$ is the result and cause of @PHENOTYPICFEATURE$.	false
+8125e9167e5a634fd7e108f2d17356dfe2440f97	@DISEASE$ is a neurodegenerative disorder of childhood characterized by early developmental delay, intractable @PHENOTYPICFEATURE$, and death in childhood.	false
+fa760bfebcb0cde6c461aa31a7917149f470b3a4	Although many patients are homozygous for this mutation, clinical presentation is highly variable, ranging from childhood-onset @DISEASE$ to adult-onset sensory ataxic neuropathy @PHENOTYPICFEATURE$ and ophthalmoparesis.	false
+cfc791cae4b136003388901e67212f07562adc59	These features of @PHENOTYPICFEATURE$, cognitive degeneration, and hepatopathy represent the "classic triad" of @DISEASE$.	false
+861bb6dc4f8cecd6b676a9bfa57c5db211567ca7	@DISEASE$ consists of diffuse @PHENOTYPICFEATURE$ manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death.	false
+d973764e90b3794a8c6a760f1785860ac17f0e7f	@DISEASE$ consists of diffuse cerebral degeneration manifested as developmental delay, @PHENOTYPICFEATURE$, vomiting, and progressive neuromuscular deterioration, with liver disease and death.	false
+b50b42ed3b3abcc74c1e97ab73c843e41138fa91	@DISEASE$ syndrome in a patient with @PHENOTYPICFEATURE$ and dementia.	false
+145ec983f2d6380d2272e920ec0409e75492645e	In this study, we describe two new loci for an inherited @PHENOTYPICFEATURE$, long QT syndrome (@DISEASE$).	false
+ab86f0b18eeb093bb8bb7fe07e148a0f98d3c960	In this study, we describe two new loci for an inherited @PHENOTYPICFEATURE$, @DISEASE$ (LQT).	false
+9e8c4cd2780b1bf16ad98001db3876843cf87da4	@DISEASE$ (LQTS) is predominantly a genetic @PHENOTYPICFEATURE$ disorder.	false
+fa867f350264c3ebf8c38b301db43dc66198952f	Long QT syndrome (@DISEASE$) is a genetically heterogeneous inherited disorder that causes sudden death from @PHENOTYPICFEATURE$.	false
+220465b6d4af70c9d0749bc01f6501f1b7fb8222	@DISEASE$ (LQT) is a genetically heterogeneous inherited disorder that causes sudden death from @PHENOTYPICFEATURE$.	false
+4bec6b1410885e7fca8418f5aeac8f2f7af1cb8c	@DISEASE$: cellular basis and @PHENOTYPICFEATURE$ mechanism in LQT2.	false
+20e4eaf7723f781f88519815fc0e612a05dfc80e	current, cause @DISEASE$ (LQTS), an inherited @PHENOTYPICFEATURE$ disorder.	false
+a052b2695012fa90f3b01ab1742c22cc23c3f7a3	@DISEASE$: ionic basis and @PHENOTYPICFEATURE$ mechanism in long QT syndrome type 1.	false
+ca01b1a98420003b8f35c0aad03dff4917c25841	SCN5A mutations associated with an inherited @PHENOTYPICFEATURE$, @DISEASE$.	false
+0b4ccd0c9ca1ed530f1da98875c8f061eed66aca	Mutations in HERG cause an inherited @PHENOTYPICFEATURE$, @DISEASE$ (LQT).	false
+660488bac49b03d76709ea4777ef843a20423e86	Mutations in HERG cause an inherited @PHENOTYPICFEATURE$, long QT syndrome (@DISEASE$).	false
+8a687a33c8f127127b80b9e00b97ce1c02fc10c1	@DISEASE$ is a rare but severe @PHENOTYPICFEATURE$.	false
+758745bdb70b1fba5958d44119a0eb9034ff6a7e	A molecular basis for @PHENOTYPICFEATURE$: HERG mutations cause @DISEASE$.	false
+22449a3f976617f2a71ddedc778a06728ec6bef2	Leukocyte adhesion deficiency II (@DISEASE$) is characterized by the lack of fucosylated glycoconjugates, including selectin ligands, causing immunodeficiency and severe mental and @PHENOTYPICFEATURE$.	false
+c70f123051f02a4f1e5543c5ab9d0a0a4988bd6f	The main risk factors of @DISEASE$ were age, @PHENOTYPICFEATURE$, and triglyceride levels.	false
+50bc0399a1f4eea1df64a75b7bc4593cecd66163	Leukocyte adhesion deficiency II (@DISEASE$) is a rare condition caused by defective protein fucosylation, causing decreased leukocyte rolling, psychomotor retardation, and @PHENOTYPICFEATURE$.	false
+f31e35b6270efcca265edadfd5bb463c05ef746c	@DISEASE$ (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis and severe mental and @PHENOTYPICFEATURE$.	false
+e00cc52b0376608d6727fac4c17a351c22272299	Leukocyte adhesion deficiency type II (@DISEASE$) is a rare disorder characterized by recurrent infections, persistent leukocytosis and severe mental and @PHENOTYPICFEATURE$.	false
+1d87b22bb61ce38942ab051dacddaa81bb853dd5	@DISEASE$ (LAD II) is a rare disorder characterized by recurrent infections, persistent leukocytosis, and severe mental and @PHENOTYPICFEATURE$.	false
+ccd9852878b56196fc4a2002a909bdfe9c9ed8fd	Leukocyte adhesion deficiency type II (@DISEASE$) is a rare disorder characterized by recurrent infections, persistent leukocytosis, and severe mental and @PHENOTYPICFEATURE$.	false
+d4340515c60dbd8fa05742654a2c2befa0474a62	Clinically, patients with @DISEASE$ suffer not only from a less severe form of infectious episodes resembling the moderate phenotype of LAD I but also from severe psychomotor and @PHENOTYPICFEATURE$.	false
+cc9f691506c7b4876adfa3315dcfbe80fdc96408	CI95%:1.0-1.2) as independent variables for developing @DISEASE$ and @PHENOTYPICFEATURE$ (OR=2.8,	false
+944526dd088a252c67f4853d35ca763415eeb227	The direct interrogation of iliac artery disease (@DISEASE$) with color-coded duplex scanning is limited by the presence of intestinal gas or @PHENOTYPICFEATURE$.	false
+f9cd784241145198d66646a9e145b64dd79bda78	Multivariate logistic regression analysis showed that age more than 45 years, @PHENOTYPICFEATURE$ and hypertriglyceridemia were significantly associated with a higher prevalence of @DISEASE$.	false
+adcf7af495d14eea255eed7c7e231f86d00895c5	Mutations that truncate the C-terminal non-catalytic moiety of TTBK2 (tau tubulin kinase 2) cause the inherited, autosomal dominant, SCA11 (@DISEASE$) @PHENOTYPICFEATURE$.	false
+5321cef763f8506f4f26209864b8407ab720991d	The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with @DISEASE$ (WS1), detailing the @PHENOTYPICFEATURE$ and screening for PAX3 mutations.	false
+a14613c3281832eef5498a9ac562d4b1e6fffd9c	@DISEASE$ (AESD) is clinically characterized by biphasic seizures on days 1, and 4 to 6; radiologically by no acute abnormality is visible during the first two days, while reduced diffusion in the subcortical white matter is seen during days 3 to 9, finally resulting in @PHENOTYPICFEATURE$.	false
+829ec7a3f1ba81190c3c4f20c9033ce0f90f648b	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is clinically characterized by biphasic seizures on days 1, and 4 to 6; radiologically by no acute abnormality is visible during the first two days, while reduced diffusion in the subcortical white matter is seen during days 3 to 9, finally resulting in @PHENOTYPICFEATURE$.	false
+9f101d8edea8ad4722b21e8b550c6331096d3af5	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is a very rare encephalopathy subtype which is characterized by biphasic seizures and disturbance of consciousness in the acute stage followed in the subacute stage by restricted diffusion in the subcortical white matter and finally resulting in @PHENOTYPICFEATURE$ on magnetic resonance imaging.	false
+d47407752eb9e7f9c3138cd67b2c20ee69e74928	@DISEASE$ (AESD) is a very rare encephalopathy subtype which is characterized by biphasic seizures and disturbance of consciousness in the acute stage followed in the subacute stage by restricted diffusion in the subcortical white matter and finally resulting in @PHENOTYPICFEATURE$ on magnetic resonance imaging.	false
+49858c1dc34866ed96c958a6e3ac454ea71abc5a	We report a case with @DISEASE$ who presented 1) reduced diffusion on MRI which was dominant in the occipital lobe, and 2) reversible visual disturbance followed by higher brain dysfunction such as a @PHENOTYPICFEATURE$ and disturbed speech.	false
+128771fe0e3e1bbb7f08dbfeeb39fccc328828da	@PHENOTYPICFEATURE$ and/or language delay was found among 42% of the children with @DISEASE$ and among 82% of the children with CHARGE syndrome.	false
+fbd03cb4192a56d3e3a69f7cf95ba0ebfcd2f14f	Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and @PHENOTYPICFEATURE$; however, bipolar disorder is not common in those with @DISEASE$.	false
+f961564e71de9facadea82f5e93eebfe54d477e3	Various neuropsychiatric disorders have been reported to occur in those with @DISEASE$, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and @PHENOTYPICFEATURE$; however, bipolar disorder is not common in those with Usher syndrome.	false
+7f2107d7b5f46750638bd4abd9d8098c3c144405	Its function is unknown, although mice with deletion of Vlgr1 (Vlgr1b together with other splicing variants, Vlgr1c, Vlgr1d and Vlgr1e) are known to exhibit audiogenic @PHENOTYPICFEATURE$ susceptibility and VLGR1 is reported to be the gene responsible for @DISEASE$ type 2C syndrome.	false
+b73fc7bf51e594cffd4c3d10056593166e7955f5	A patient wrongly referred as a possible victim of thalidomide showed the three classical cardinal features of the @DISEASE$, plus @PHENOTYPICFEATURE$, an unusual finding in this condition.	false
+c3948ec8e39b04c878945e28069d31a3c4b4fe96	The 2DUS performed at 19 weeks confirmed the @DISEASE$, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with @PHENOTYPICFEATURE$, and presence of cleft lip/palate.	false
+1a07289bdeff473748f90c43f02d897523b873d5	It appears that young age, moderate to severe hydrocephalus, transependymal @PHENOTYPICFEATURE$, the presence of cerebral metastases, and tumor pathology (@DISEASE$ and ependymoma) on presentation predict postresection or persistent hydrocephalus.	false
+f227d84ccb75ad8d6a76a6e9f33aa05ec7c1ef3c	The authors report a case of 6-month-old boy with cerebellar @DISEASE$ associated with malignant rhabdoid tumor of the kidney, presenting with an abdominal mass, @PHENOTYPICFEATURE$ and projectile vomiting.	false
+3e1ae9b4572b60d99df4174d135b7aed9a44e1e7	Inhibition of SUR1 may result in neuronal stabilization in glioblastoma, cerebral metastases, and posterior fossa ependymoma and reduced @PHENOTYPICFEATURE$ in @DISEASE$.?.	false
+fe99ad2ff1b77d6a1cf87b4399d82682899c5bef	A 3-year-old child with @PHENOTYPICFEATURE$, facial dysmorphism, growth retardation, and developmental delay was diagnosed with @DISEASE$.	false
+d748cedd4ddb8ffcee1d313e1e14ecf2424c6b0e	Here, we report on an 18-month-old boy presenting with @DISEASE$, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, @PHENOTYPICFEATURE$, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst.	false
+d4130a02335109d3633579624be10a70f38e2830	Fifteen tumors were typical cerebellar astrocytomas and nine were posterior fossa primitive neuroectodermal tumors/@DISEASE$. Spectra obtained from the five samples of peritumoral vermis revealed a pattern of metabolites similar to that reported for cerebellar tissue, but concentrations of most metabolites were low, perhaps due to dilution from peritumoral @PHENOTYPICFEATURE$.	false
+16f431fa51ec09f7f21aca2be381c74e4720517b	Urgent radiotherapy is effective in the treatment of metastatic @DISEASE$ causing symptomatic brainstem @PHENOTYPICFEATURE$.	false
+518136df59649d435328d647da628089d03278c9	Here, we report that Aspm, a gene that is mutated in familial @PHENOTYPICFEATURE$, regulates postnatal neurogenesis in the cerebellum and supports the growth of @DISEASE$, the most common malignant pediatric brain tumor.	false
+eeb4dd81359d88286bc9a3aca44530822d048134	We retrospectively analyzed the data of 33 children with @PHENOTYPICFEATURE$ and 33 controls with @DISEASE$.	false
+04aabbad9b7c9b63f143ab228522c807e29603b9	In humans, homozygous loss of the L gene (FTL) is associated with @PHENOTYPICFEATURE$ and atypical restless leg syndrome, while mutations in FTL cause a form of @DISEASE$.	false
+f5f732c3ac13939dde555b93c44622027df82aef	Ultrastructural findings of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6fd3e0b2c62199e67c6b9c2a49248198d544ad58	To test whether the oral epithelia of @DISEASE$ (OSF), epithelial @PHENOTYPICFEATURE$ (EH) and epithelial dysplasia (ED) may have increased proliferative activity under the long-term exposure to areca quid ingredients and whether there is an increased expression of proliferating cell nuclear antigen (PCNA) in oral premalignant lesions with disease progression, we used an immunohistochemical technique with the mouse monoclonal antibody PC10 to investigate PCNA expression in histologic sections of OSF, EH, ED and normal oral mucosa (NOM).	false
+2a696ce128fa3c17c598c838787b2c2dbd1f3a88	Although most of the reported cases were isolated ocular abnormality, but it may occurs in association with other ophthalmic abnormalities such as cyst of the @PHENOTYPICFEATURE$, congenital cataract, microophthalmos, and @DISEASE$.	false
+8b707640f69773c22238a023527251c0a57b3cc2	Glaucoma and complications associated with glaucoma surgery are a major cause of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+acf16345776e857a4f216f14bec7397ea6baffb9	Less common congenital disorders are microcornea (1%), @DISEASE$ (1%), retinal atrophy (1%), and congenital anomaly of the optic disc (1%), which are congenital causes of irreversible childhood @PHENOTYPICFEATURE$.	false
+6b3eeeca6ba88456d6cb2cb10f3a132b13b9cd6b	Delineated features of this syndrome include visceromegaly, macrosomia, renal hamartomas, nephroblastomatosis, cryptorchidism in males, @PHENOTYPICFEATURE$, polyhydramnios, fetal ascites, and Wilms tumor but do not include hemihypertrophy, omphalocele or umbilical abnormalities, @DISEASE$, or other conditions known to be associated with Wilms tumor.	false
+0590f39e12d26d7e3da7e181e75feea510119414	Several neuro-ophthalmological diseases have recently been studied in this way; including Leber's hereditary optic neuropathy and other mitochondrial diseases, autosomal dominant (Kjer) @PHENOTYPICFEATURE$, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: @DISEASE$ and Waardenburg's syndrome.	false
+12e28fb032326a263b3e15448461a80ef862a30e	Several neuro-ophthalmological diseases have recently been studied in this way; including Leber's hereditary optic neuropathy and other mitochondrial diseases, autosomal dominant (Kjer) optic atrophy, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: @DISEASE$ and Waardenburg's syndrome.	false
+ba42525f631d8095abe5acf01e1c57b64cdcd69f	Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or @DISEASE$, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, @PHENOTYPICFEATURE$, coloboma, and preaxial polydactyly without obesity, only known from the original report, (3) a "new" dominantly inherited form of colobomatous microphthalmia occasionally associated with obesity, hypogonadism, and mental retardation, to which our observations belong.	false
+6aa1a50e3b719bd8e40383ac240c10b7d6c23cf0	[A case of @DISEASE$, glaucoma and @PHENOTYPICFEATURE$].	false
+aae5c3749bfa677515fc6fadb64ec28e3a4fee10	We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$, intrauterine growth retardation, and minor skeletal abnormalities.	false
+35a71af1d50e75dc6354ec932402455a481a6197	The most frequent diagnosis in this collective which led to visual impairment in children was @PHENOTYPICFEATURE$ (22.4%) followed by hereditary retinal dystrophy (18.5%), congenital nystagmus (9.9%), albinism (8.6%), retinopathy of prematurity (ROP, 7.9%), @DISEASE$ (4.6%), cerebral visual impairment (CVI, 4.3%) and severe myopia (3%).	false
+0fc6aadac0a15c8606e5bcf2ce401d9b1d99aee0	We report a multiple congenital anomalies (MCA) syndrome in three unrelated fetuses consisting of extremely thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, @PHENOTYPICFEATURE$, ocular malformations (microphthalmia, @DISEASE$), cloverleaf skull deformity, and splenic hypoplasia.	false
+7c6061bff721d535456c349ca929751a06ed364e	The course of infection is more severe in children from a risk group, which includes children who were born preterm, these with @DISEASE$ (BPD), children with @PHENOTYPICFEATURE$ significantly influencing their hemodynamics, and immunocompromised children.	false
+e6f6f7db4cb2c16de68b4f600797ad3343504ca4	The course of infection is more severe in children from a risk group, which includes children who were born preterm, these with bronchopulmonary dysplasia (@DISEASE$), children with @PHENOTYPICFEATURE$ significantly influencing their hemodynamics, and immunocompromised children.	false
+bc13eebd1ca78412afa8261a91b8dbc80465d0f8	LOH lasting at least 7 days significantly increased moderate to severe @DISEASE$, periventricular leukomalacia, and extra-uterine @PHENOTYPICFEATURE$.	false
+c628c854c9a0e2c479c3973750ab4adb03c15b9d	Findings indicate that infants with @DISEASE$ are at greater risk for @PHENOTYPICFEATURE$ in their second year than infants with respiratory distress syndrome.	false
+b65ff7db932c7ae96954c74964ca8489ac2098fe	It is reported that very-low-birth-weight (VLBW) infants with the complication of bronchopulmonary dysplasia (@DISEASE$) are at high risk for metabolic bone disease and @PHENOTYPICFEATURE$.	false
+249ac77916bdc2c81cb33b9b7cfda44a2d92bcb2	It is reported that very-low-birth-weight (VLBW) infants with the complication of @DISEASE$ (BPD) are at high risk for metabolic bone disease and @PHENOTYPICFEATURE$.	false
+133e602cdec2afe277084bf20dfaf9f8dbfc5ea2	Adverse outcomes such as severe bronchopulmonary dysplasia (@DISEASE$), bacteremia, and @PHENOTYPICFEATURE$ test occurred more frequently in infants with FI than non-FI.	false
+d1f98c36445ddffacb1adcb92b830a0e08c5f8be	Adverse outcomes such as severe @DISEASE$ (BPD), bacteremia, and @PHENOTYPICFEATURE$ test occurred more frequently in infants with FI than non-FI.	false
+099fc21ea4518fa2037c95267654d32618b50795	Twenty-two infants previously required ventilatory support, 11 patients had apnea/@PHENOTYPICFEATURE$, and 9 patients developed @DISEASE$.	false
+ab672e4950f1a1e4bf1b04da05f2c0976905ba4f	The most powerful contributors to the developmental outcomes were birth weight, @DISEASE$, intra-uterine @PHENOTYPICFEATURE$, gender, and maternal education.	false
+aed5c8b9d173bc7dc00a7a9cc7b97d09d71f64c1	Infants with @DISEASE$ are susceptible to extrauterine @PHENOTYPICFEATURE$ at discharge.	false
+cdb0c53149a23aa308f776be06e0616dcbd14b98	The ratios of MVW/MVL, MVL/BPD, and MVW/@DISEASE$ provide guides to the early diagnosis of @PHENOTYPICFEATURE$ and intracranial abnormalities.	false
+1a8ce5961a8f38efb2f2ce9323a7d1495e215eab	The ratios of MVW/MVL, MVL/@DISEASE$, and MVW/BPD provide guides to the early diagnosis of @PHENOTYPICFEATURE$ and intracranial abnormalities.	false
+4b45f28cda888ed144bbc610fb31e036b0c349a5	Six infants had associated bronchopulmonary dysplasia (@DISEASE$) and 11 had signs of congestive @PHENOTYPICFEATURE$.	false
+a993222fc0922d3ecef8d6f178d99010452666c4	Six infants had associated @DISEASE$ (BPD) and 11 had signs of congestive @PHENOTYPICFEATURE$.	false
+d8c4a88bd63a10237f21fb2580d2470ddf4bb1a8	We report a term male newborn with @DISEASE$ presenting with ambiguous genitalia, multiple extra-gonadal anomalies, @PHENOTYPICFEATURE$, and radioulnar synostosis.	false
+33418eb50e9cd584fb9c6ee294dd173cf2bab47c	Patients with @DISEASE$ show some peculiar clinical features, such as mental retardation, @PHENOTYPICFEATURE$, ambiguous genitalia, and multiple skeletal and cardiac defects.	false
+29052142e98a8caac3794cc3a3574c31c64a4955	Twenty-six percent of patients had @DISEASE$ and 74% had @PHENOTYPICFEATURE$ type IIb at baseline.	false
+02e3777b48be96b523629186f8dbe14bdbfa6b80	Twenty-five percent of patients had @DISEASE$ and 75% had @PHENOTYPICFEATURE$ type IIb at baseline.	false
+accb26e1a82cf807ab11aa3a07e4aed8e9ad1392	Main symptoms of the @DISEASE$ are increased birth weight, early @PHENOTYPICFEATURE$, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay.	false
+bfcba7ab6705e1b615b59f033b68612770e7afeb	@DISEASE$ is a rare disorder of unknown etiology characterized by skeletal @PHENOTYPICFEATURE$, distinctive craniofacial and digital abnormalities and advanced bone age.	false
+640b9d3a83ce346ff939e70fa007b8b94fa77560	@DISEASE$: a case without early @PHENOTYPICFEATURE$ and review of the literature.	false
+c30bd5c56c107672cce12de7cca705fd74113b9e	Some degree of phenotypic overlap exists with other @PHENOTYPICFEATURE$ syndromes, in particular with @DISEASE$.	false
+9fbe8cfde19224443c1d157abaae54360eb1d2ad	Constitutional NSD1 and EZH2 mutations cause Sotos and @DISEASE$ respectively, @PHENOTYPICFEATURE$ syndromes with considerable phenotypic overlap.	false
+4f649bb6b77171f28409546aa94104cb7e9cbafe	Genome-wide associated studies have implicated EZH2 in the control of height and mutations in EZH2 cause @DISEASE$, which includes skeletal @PHENOTYPICFEATURE$.	false
+5bf6c7befd5e2833a3b1867cd305491053e19c9a	EED-associated overgrowth (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests @PHENOTYPICFEATURE$ and intellectual disability (OGID), along with other features similar to @DISEASE$.	false
+a940c5ae3c5314378609a341b11b2249f74b6b83	EED-associated @PHENOTYPICFEATURE$ (Cohen-Gibson syndrome; OMIM #617561) is caused by germline heterozygous mutations in Embryonic Ectoderm Development (EED), and manifests overgrowth and intellectual disability (OGID), along with other features similar to @DISEASE$.	false
+c80ff2c1a2d4297e80ca824ba2de1f358ba544ae	@DISEASE$ is a rare condition characterized by @PHENOTYPICFEATURE$, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features.	false
+a15e5bdf9c93e99da90448bda58653206b5dc963	@DISEASE$ is a rare disorder of unknown etiology characterized by skeletal @PHENOTYPICFEATURE$, distinctive craniofacial and digital abnormalities, and advanced bone age.	false
+5c644dc54f5c16486968de808960e475ca9b5922	@DISEASE$ is an overgrowth syndrome characterized by pre- and postnatal @PHENOTYPICFEATURE$ with distinctive craniofacial appearance.	false
+615a08b2b59a523752fa4dd2064f2d28d6a439cf	@DISEASE$ is a neurodegenerative disorder that primarily affects older male premutation carriers of the fragile X @PHENOTYPICFEATURE$ gene.	false
+2477f2dd5eba06f40af391014110c2a7524518d8	Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of @PHENOTYPICFEATURE$-and increase the risk for @DISEASE$ and fragile X-associated primary ovarian insufficiency.	false
+2c404b7a507293aac4ac883473449403c16dedb7	Fragile X @PHENOTYPICFEATURE$ 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for @DISEASE$ and fragile X-associated primary ovarian insufficiency.	false
+0dcfeec62fa8842c9ed79ebf77a97c7e8451d260	The @DISEASE$ (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X @PHENOTYPICFEATURE$ 1) premutation.	false
+01a45722ed61a4d45df3603e553fe72952e836e9	Premutation carriers of the fragile X @PHENOTYPICFEATURE$ gene (especially men) older than 50 may develop a neurodegenerative disease, the @DISEASE$ (FXTAS).	false
+c00abff28e96962213ae6909755395440d922ff2	The @DISEASE$ (Fragile X-associated tremor/ataxia syndrome) is a specific neurodegenerative syndrome affecting subjects carrying a premutation of the FMR1 (fragile X @PHENOTYPICFEATURE$ 1) gene.	false
+1d43db6f0c0495adcf4b51686261eed3baeac1ae	The FXTAS syndrome (@DISEASE$) is a specific neurodegenerative syndrome affecting subjects carrying a premutation of the FMR1 (fragile X @PHENOTYPICFEATURE$ 1) gene.	false
+2430fce05cb761ad89a1d56cce0c2fe1e056cd8c	CGG repeats, when expanded in the 5' untranslated region of fragile X @PHENOTYPICFEATURE$ 1 (FMR1) mRNA, cause @DISEASE$.	false
+71135b11b625160aea1f2d917b95f379636a5a70	Premutation CGG repeat expansions (55-200 CGG repeats; preCGG) within the fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene can cause @DISEASE$.	false
+f6b3beb882ce353db4ec85028a86a32cdde78f8e	@DISEASE$ (FXTAS) is a neurodegenerative disorder associated with a premutation trinucleotide repeat expansion in the fragile X @PHENOTYPICFEATURE$ 1 gene.	false
+58c6bcff4fd64fe53fbe32aeae176dcb239da7a1	Individuals with fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene premutations are at increased risk for @DISEASE$ (FXTAS) during aging.	false
+7e72922c2400c0dd00cb76a822bff89d71d21310	@DISEASE$ (FXTAS) results from a "premutation" size 55-200 CGG repeat expansion in the fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene.	false
+843eba0d2f4dadaeca011bbf840f49ff129cdae5	May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (@DISEASE$) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and D?hle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, @PHENOTYPICFEATURE$, and nephritis.	false
+99bc215bde63bd82cd63b2930a90a3836b77e8d0	Monkeys showed severe EPS-like clinical signs such as abnormal posture, @PHENOTYPICFEATURE$ and hallucination-like behavior at relatively low exposures compared to those associated with @DISEASE$ in patients with schizophrenia.	false
+2e54d53ae91a11fb70a63fbc7b0d1ec67d79835f	Its existence was confirmed in six additional @DISEASE$ patients, in five out of seven controls, and in four different cell lines (fibroblast, muscle, hepatoma and myelogenous @PHENOTYPICFEATURE$).	false
+4ff8379b4f7f71a91d83e30382614a1ade8d1479	Erythropoietic proteins (@DISEASE$) offer an effective treatment of cancer @PHENOTYPICFEATURE$ and ameliorate QoL, although their use requires the correct targeting of hemoglobin increase to avoid thromboembolic complications.	false
+82f0b4552117158acbe70ddb09796d10ff1e837c	Tinnitus suppression by electrical promontory stimulation (@DISEASE$) in patients with @PHENOTYPICFEATURE$.	false
+b2be5180dc4133ae8f26cce5a5caa4d5bc97b1cb	This case shows that juvenile-onset DM can occur simultaneously with @DISEASE$ and result in growth retardation, acute @PHENOTYPICFEATURE$ formation and a high cortisol concentration.	false
+557f8f97dce07ffde88aefb05ecbe504b3e6d5e7	In contrast to the borderline @PHENOTYPICFEATURE$ and abnormal behavioral phenotype in subjects with selective MAO-A deficiency and the severe mental retardation in patients with combined MAO-A/MAO-B deficiency and @DISEASE$, the MAO-B-deficient subjects exhibit neither abnormal behavior nor mental retardation.	false
+94007e66feb443d9860cac6291792b79848f3915	In contrast to the borderline mental retardation and abnormal behavioral phenotype in subjects with selective MAO-A deficiency and the severe mental retardation in patients with combined MAO-A/MAO-B deficiency and @DISEASE$, the MAO-B-deficient subjects exhibit neither abnormal behavior nor @PHENOTYPICFEATURE$.	false
+6282cf3134a8c8cdbec6d032f38d5b785dabef9e	In contrast to the borderline mental retardation and abnormal behavioral phenotype in subjects with selective MAO-A deficiency and the @PHENOTYPICFEATURE$ in patients with combined MAO-A/MAO-B deficiency and @DISEASE$, the MAO-B-deficient subjects exhibit neither abnormal behavior nor mental retardation.	false
+c6f5dfed1138de4962a331838a8c5aa8e9e6c069	Only @DISEASE$ displays additional neurological symptoms, which are sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+694b22ae0348b4eadc72600bf5d8da094898b034	@DISEASE$ (ND) is an X-linked recessive disorder causing ocular atrophy, @PHENOTYPICFEATURE$, deafness, and dysmorphic features.	false
+0df72edb7b988efb477cbcec9470186ecae35cf4	@DISEASE$ is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and @PHENOTYPICFEATURE$ in males.	false
+9cb660033e395570607303e340d1e05397a2a6a8	Retinal @PHENOTYPICFEATURE$ and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe @DISEASE$ in the proband.	false
+e0690e87b3edafb08c87e5361a17f2083428f159	Mutations in @DISEASE$ Pseudoglioma (NDP) gene cause serious sight loss, deafness and @PHENOTYPICFEATURE$ in Norrie disease patients via the impairment of angiogenesis.	false
+c659d52c2c34255b973e1cc5414b8759303fa3fa	Mutations in Norrie Disease Pseudoglioma (NDP) gene cause serious sight loss, deafness and @PHENOTYPICFEATURE$ in @DISEASE$ patients via the impairment of angiogenesis.	false
+a7537cb6d3cbf8134594f29b6e1c7ecc5386bb9e	@DISEASE$ is an X-linked recessive disorder characterized by congenital blindness and, in many cases, @PHENOTYPICFEATURE$.	false
+123463ba7d5a2c8e302fa1e40c940938c3bbe1dc	@DISEASE$ is an X-linked recessive syndrome of blindness, deafness, and @PHENOTYPICFEATURE$.	false
+7018e0e4ab8bceb432abfb6ae01dfadae3dfdc92	Only two of the 13 Norrie-FEVR index cases had the full features of @DISEASE$ with deafness and @PHENOTYPICFEATURE$.	false
+a93eb83fce0ba058cb77e5ec42b2958d56288d72	@DISEASE$ (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, @PHENOTYPICFEATURE$ and hearing loss.	false
+ec47dc50d8e4e1cf7d5170dc62da3f9d360edbad	Herein we describe a 9 month old female patient with known @DISEASE$, who presented with an unusual constellation of symptoms, including severe erythema and desquamation, alopecia, keratomalacia, corneal perforation, @PHENOTYPICFEATURE$ and prolonged diarrhea.	false
+e94894d6b96b591f12970b82b532319cac0d4d23	Other birth defects are rarer among black children, notably cleft lip and palate, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f68b814bdc4ff8de3c20b48fda5e51dc5a75335b	A review of histopathology and neuroimaging studies reveals that diffuse white matter pathology in untreated @DISEASE$ patients is likely to reflect hypomyelination (lack of myelin formation), while in early-treated patients white matter abnormalities observed on magnetic resonance imaging (MRI) is likely to reflect intramyelinic @PHENOTYPICFEATURE$.	false
+701f27354b98fe537560650f472431e8f52979cc	We report a child born to a mother with poorly controlled @DISEASE$ and suggest that the @PHENOTYPICFEATURE$ seen in this child could be part of the specturn of maternal PKU embryopathy.	false
+115e465fb4d7425b4d2b4027508c2747108c4e27	Clinical applications of bioethical considerations are given to the patients with following diseases: spina bifida cystica and other @PHENOTYPICFEATURE$, congenital metabolic disorders such as cretinism and @DISEASE$, malignant tumors such as neuroblastoma and retinoblastoma, and intractable epilepsy.	false
+5c027f8f065f50d77fb1f4c6130e47df00c34bab	Malformations, consisting essentially of @PHENOTYPICFEATURE$, were present in almost 100% of the embryos cultured in serum from @DISEASE$ patients.	false
+d2cb062732381af0a4e7fd084472664dc6b20adb	Two patients with myotonic @DISEASE$ presented with abdominal pain, distention, constipation, and @PHENOTYPICFEATURE$.	false
+5575a2b58f73716aa43ad221517c46ee8c5628cd	Two patients with myotonic @DISEASE$ presented with @PHENOTYPICFEATURE$, distention, constipation, and vomiting.	false
+4223791f7415d494bb69ce31d245c066f6fb3508	@PHENOTYPICFEATURE$ and esophageal dysfunction due to dystrophin deficient @DISEASE$ in a male Spanish water spaniel.	false
+950ff34c0893a5ccc2da674642f08407eeaf1f40	In earlier reports of rhabdomyolysis after general anaesthesia with halothane and suxamethonium almost all the patients had @PHENOTYPICFEATURE$ (MH) or @DISEASE$.	false
+cd344f98bd67503505aa5377030931b4461f793a	Proximal myotonic dystrophy--a family with autosomal dominant @DISEASE$, cataracts, hearing loss and @PHENOTYPICFEATURE$: heterogeneity of proximal myotonic syndromes?	false
+2d1d9d379cf79dcc51d15e3855c78ff3ca6ad4d7	Defect of SGCA was previously shown to lead to severe childhood autosomal recessive @DISEASE$ (LGMD2D) which result in progressive muscle weakness and can also be associated with @PHENOTYPICFEATURE$ or scoliosis.	false
+7a681adef31795764b2ec694a1922cc686bfd81e	@DISEASE$ patients often show @PHENOTYPICFEATURE$, in addition to muscle degeneration caused by dystrophin gene defects.	false
+9eaa80fcd68d46ead7f0caac8a6e5d6d992462a9	@DISEASE$ and @PHENOTYPICFEATURE$--similiar signs.	false
+c9307d8031f3c19d33606d37d751887f74a24af7	Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant @DISEASE$ characterized by progressive ptosis, @PHENOTYPICFEATURE$, and proximal limb weakness.	false
+a5ace47bbd10ab3baf823e217d5758ccc9aa766c	The signs of BBS11 include obesity, pigmentary and retinal malformations, diabetes, @PHENOTYPICFEATURE$, and no @DISEASE$, suggesting an alternative disease mechanism.	false
+c6ebaf568cdcf9ae3b9fa4e9711e193f8f80ee8b	This is the first report of a cat with @DISEASE$ presenting for chronic pneumonia without obvious megaesophagus, @PHENOTYPICFEATURE$ or prominent neuromuscular signs until late in the course of the disease.	false
+b1e7e9d9222af2a6f4309acfbb37fa14e3a2dba1	A case report of @DISEASE$ accompanied by congenital @PHENOTYPICFEATURE$.	false
+be368c99aec4543c774843e656875da6d881341f	LVP may predict severe @PHENOTYPICFEATURE$ episodes both in SX and @DISEASE$ patients.	false
+4931dbca93b9b359848ca6c52eb1b8cfe108844a	@DISEASE$, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, @PHENOTYPICFEATURE$ and severe syndactyly of the hands and feet.	false
+eabe77bef8d15a5761e9f6d07ffda8d74e279b5a	In acute coronary syndrome (@DISEASE$), potassium levels <3.5 mEq/L are associated with @PHENOTYPICFEATURE$.	false
+f0137792ec4535a1e70f55e98cc9a43dcfa07b0c	A case of isolated @DISEASE$ deficiency with hyporeninemic @PHENOTYPICFEATURE$.	false
+50a7805a4d22cf341e8218ae974c8f74bab69266	A case of isolated @DISEASE$ deficiency with hyporeninemic @PHENOTYPICFEATURE$, presenting severe hyponatremia, is described.	false
+a340428682a941c8a4b56a325283c4d33f917bbf	We sequenced KIF7 in five suspected @DISEASE$ cases, one fetus and four patients, based on @PHENOTYPICFEATURE$ and brain anomalies.	false
+1a43eebd879dc4d1ef0097898e2a31d216143209	The features of craniosynostosis, @PHENOTYPICFEATURE$, and distal extremity syndactyly in @DISEASE$ are well known.	false
+dd93196173de4065f4a27156245cb8e80a589e88	Dyslipidemia and @PHENOTYPICFEATURE$ are common among patients presenting with acute coronary syndromes (ACS), and patients with @DISEASE$ and metabolic disorders are at increased risk for worse outcomes.	false
+1d62723dc56870b7d84b98ce6b45a2563fb94a2d	Dyslipidemia and @PHENOTYPICFEATURE$ are common among patients presenting with acute coronary syndromes (@DISEASE$), and patients with ACS and metabolic disorders are at increased risk for worse outcomes.	false
+aaa2479c8d6d97c9c8ee83d3a0d9999eae92f34b	The risk of prognostically unfavourable high-gradation @PHENOTYPICFEATURE$ episodes in SX and @DISEASE$ patients is the same.	false
+f2be1e219e1dff2c4e461dc4050104ada65d206d	The development of @DISEASE$ was diagnosed based on a variety of factors, including bladder pressure, @PHENOTYPICFEATURE$, hemodynamic monitoring, and clinical evaluation.	false
+df941bf2f82531611f92af9ed3e84b51cd93e101	Renal failure, altered general health, a preoperative locally advanced @PHENOTYPICFEATURE$ and multifocal disease appeared to be preoperative prognostic factors for @DISEASE$ (p = 0.01, 0.03, 0.001 and 0.03, respectively) in the univariate analysis.	false
+e48f82c3f76199bb7c75b16536b05e89a8e53bdf	@PHENOTYPICFEATURE$, altered general health, a preoperative locally advanced tumour and multifocal disease appeared to be preoperative prognostic factors for @DISEASE$ (p = 0.01, 0.03, 0.001 and 0.03, respectively) in the univariate analysis.	false
+aabef1f55956e36a58828407b9f0b80fb19aa690	Although kidney transplantation and hemodialysis were not associated with @DISEASE$, @PHENOTYPICFEATURE$ stage was an independent predictor of CSS.	false
+41ced566c6c0d65b430d670f73da88430bb52a24	Although kidney transplantation and hemodialysis were not associated with CSS, @PHENOTYPICFEATURE$ stage was an independent predictor of @DISEASE$.	false
+c10bfedfe75aa01a3b74763d864aa944b8165d34	We propose that some patients with @DISEASE$ may have inflammatory arthritis (with or without coexisting @PHENOTYPICFEATURE$), which may be helped by treatment as described herein.	false
+ad5b1a3053f2f0672b8448ae64ca9641d4d9022b	Advantages of the traditional format compared with the classification tree format, when applied to patients with systemic @PHENOTYPICFEATURE$, and their comparison with earlier work on @DISEASE$ are discussed.	false
+89c4f9105f691c1f9238efb5b383e73b0dfaf7f9	The two IRCC subgroups had similar @DISEASE$ and @PHENOTYPICFEATURE$ characteristics.	false
+99e3b981487ae918db66b530e31efcc6020ecfcf	The @PHENOTYPICFEATURE$ dimensions affected @DISEASE$ and metastatic rate.	false
+e81f27f2ca817b6041d636615af1d33f8319a3d4	Renal involvement in @DISEASE$ varies from 26 to 88 % but is usually of mild to moderate stage, and advanced @PHENOTYPICFEATURE$ is uncommon.	false
+e6067c6c76617af973514466b19fc20dd69eda29	A 68-year-old man with @DISEASE$ on maintenance steroid therapy underwent MRI/A during tinnitus aggravation, and showed @PHENOTYPICFEATURE$ of the left middle cerebral artery and stenosis of the peripheral area of the right vertebral artery.	false
+3201f3c8f86e7ff19ab5c6604c2939d483125f72	Churg-Strauss syndrome (@DISEASE$) is a rare cause of @PHENOTYPICFEATURE$ neuropathy.	false
+4dad72975bf3697bf645337e7f27694dc64a9ced	We describe a five-month-old male infant with @DISEASE$, the so-called Dandy-Walker variant (@PHENOTYPICFEATURE$ with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum.	false
+f8866959e279fab7e512917a28d4febec93532cb	Mutations in genes that interfere with K(v) ion channel function cause severe inherited diseases, such as @DISEASE$, deafness, epilepsy, or @PHENOTYPICFEATURE$.	false
+2b1aaf90628a214dc9023fcab4e6a9111979d6e7	Duck-origin goose parvovirus (D-GPV) is the causative agent of beak atrophy and dwarfism syndrome (@DISEASE$), characterized by @PHENOTYPICFEATURE$, skeletal dysplasia, and persistent diarrhea.	false
+ff2032bcba96b1abe6b5b81f3bae2cc490d6c7fe	Bile acid diarrhoea (@DISEASE$) is a common cause of chronic diarrhoea with a population prevalence of primary BAD around 1%. Previous studies have identified associations with low levels of the ileal hormone fibroblast growth factor 19 (FGF19), @PHENOTYPICFEATURE$ and hypertriglyceridaemia.	false
+f4523695e1170a11bb15e504ab2b58fce5949017	Some previously held correlates of hemorrhoidal symptoms, such as @PHENOTYPICFEATURE$ and extended time for defecation, showed no apparent association with hemorrhoid treatment history or current @DISEASE$ symptoms.	false
+334fed3c8b4d751ccec1358496423daddb41220e	The aim of this study was to document the clinical picture of excessive daytime sleepiness (EDS) and of other @PHENOTYPICFEATURE$, and to study the relationship of daytime sleepiness to anthropometric data, muscular impairment, and CTG trinucleotide repeat expansion in @DISEASE$ (DM1).	false
+3fb11d9bf60952ccccf4c20b9d630c366988b7f3	@PHENOTYPICFEATURE$ and excessive daytime somnolence are common and disabling features in adult-onset @DISEASE$ (DM1).	false
+2aa4365db478dd6f48ca1e0dda4d278437005d00	Although sleep disturbances are common in @DISEASE$ (DM1), @PHENOTYPICFEATURE$ in myotonic dystrophy type 2 (DM2) have not been well-characterized.	false
+178a56b93b259b94250cab4be591629e7133f197	It begins with edema due to hypoproteinemia and @PHENOTYPICFEATURE$, and in some cases with ascites, immunodeficience and hypocalcemic @DISEASE$.	false
+b724cdf4faab4d611363189ef5f22ddc92b9c4c7	It begins with edema due to @PHENOTYPICFEATURE$ and hypoalbuminemia, and in some cases with ascites, immunodeficience and hypocalcemic @DISEASE$.	false
+c8f82446be6ab7cab51526c163b3aefe081fedaa	Crypt architectural disarray [12 (75%) vs. 2 (14%); P=0.001], lamina propria @PHENOTYPICFEATURE$ [9 (56%) vs. 2 (14%); P=0.017], increased lamina propria inflammation [13 (81%) vs. 3 (21%); P=0.001], dilated damaged crypts [7 (44%) vs. 1 (7%); P=0.024], and increased crypt epithelial apoptosis [9 (56%) vs. 2 (14%); P=0.017] were more common with @DISEASE$ patients compared with non-MMF patients.	false
+5f7f2d35d2a320d4aabb553663ba41b0b44e74d4	The availability of wire cutters at the hospital bed or issuance of wire cutters to outpatients in @DISEASE$ should be based on a case-by-case consideration of the procedure performed, postoperative bleeding, vomiting potential, @PHENOTYPICFEATURE$, airway integrity, patient dexterity, and patient compliance.	false
+2c0886fd6c857474004495aeeee248c1e634570b	@PHENOTYPICFEATURE$ and coma associated with renal tubular acidosis in an old patient with refractory edema due to the @DISEASE$: furosemide-bicarbonate therapy.	false
+a34825caacc1a1c9c68783f387388576b376daff	Pleural effusion in myeloma may be due to plasma cell infiltration of the pleura, congestive heart failure, @PHENOTYPICFEATURE$, @DISEASE$, and second neoplasms.	false
+4440c3225fb6e43f84493ade4cba10344597bbf9	A case of synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with @DISEASE$.	false
+3ee8f685aa30615a85de595c19623c049003fe1c	We describe a patient with TMEM165-CDG with facial dysmorphism, @DISEASE$, cardiac defects, @PHENOTYPICFEATURE$, feeding problems, and neurological involvement.	false
+9783325a8f81d8cd7f5f07a4fe5da9f9664f334d	A 12-year-old boy of consanginous Turkish descent developed @PHENOTYPICFEATURE$ from spondyloepiphyseal dysplasia at the age of 6 and @DISEASE$ at the age of 10 years.	false
+57a66bebef4610a75762bf7046357d9e79bdfea7	She manifested @DISEASE$, and @PHENOTYPICFEATURE$ and hyperchloremic metabolic acidosis.	false
+0485ee727b89c9fec737e77f38aa289f3f6d5efb	[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of @PHENOTYPICFEATURE$ and the @DISEASE$].	false
+d3c484a2d1dbd74b5f562b5c93b3f7500e883717	A 25-year-old patient presented in her first pregnancy with @DISEASE$ associated with characteristic bone abnormalities and @PHENOTYPICFEATURE$ and was later diagnosed to have nail-patella syndrome.	false
+a5868d546061b6ecb8969550f5af696523994546	Investigation showed coagulopathy, homogeneous @PHENOTYPICFEATURE$ with elevated cholestasis enzymes but normal bilirubinaemia, and a @DISEASE$ with monoclonal kappa light chains.	false
+7635828ca6d5fe244ac77204183535f6c1a00951	A 10-year-old Turkish boy with consanguineous parents was presented with a @PHENOTYPICFEATURE$ and a @DISEASE$.	false
+414a76888c0f8afbc0bb15140675d0d4ebe8dfd2	Common acquired etiologies include chronic thromboembolic pulmonary hypertension, infections (syphilis and tuberculosis), vasculitis (Behcet's and @DISEASE$), @PHENOTYPICFEATURE$ (primaryandmetastatic), andtrauma(most often iatrogenic).	false
+8a95aed164e02d400ca16038e74b25822347f915	Two patients with LCHAD/MTP deficiencies died due to severe cardiomyopathy in the neonatal period, and developmental @PHENOTYPICFEATURE$ was noted in @DISEASE$ (1 patient).	false
+55002eb2a97d59db7b8f81f6c74e66bcd5ec3aec	syndrome (@DISEASE$) is an uncommon entity that presents acutely with all or some of the following symptoms; urinary incontinence from retention, fecal incontinence from loss of sphincter tone, saddle area @PHENOTYPICFEATURE$ or anesthesia, and acute or progressive weakness in one or both lower extremities.	false
+fbef31a9a48c9226a18b4df71026447f8f762a6c	@DISEASE$ (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by @PHENOTYPICFEATURE$, upper limb deformities, and mental retardation.	false
+6a3a8e8120529f59bba14e3354b3cef7021777f2	Cornelia de Lange syndrome (CdLS) (also referred to as @DISEASE$) constitutes a multisystem developmental anomaly which is characterized by @PHENOTYPICFEATURE$, upper limb deformities, and mental retardation.	false
+5504b2a0d3d008c55f5837b47807c32a7fd372da	@DISEASE$ (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+98b8be5d6524b0160576d0ae62dc6024861711d5	Cornelia de Lange syndrome (CdLS; also called @DISEASE$) is a developmental disorder characterized by typical @PHENOTYPICFEATURE$, growth and mental retardation, microcephaly, and various malformations.	false
+9dd554070509cff0a02515184579e3f184ddf704	@DISEASE$, @PHENOTYPICFEATURE$ and a difficult airway.	false
+7a045c14100639a2bda6d8dd6b4f353a778f595e	@DISEASE$ (CdLS) is a clinically heterogeneous disorder characterized by typical @PHENOTYPICFEATURE$, cognitive impairment and multiple congenital anomalies.	false
+1da318c14d8817d1f87e7ad78ad1b9441975951a	Exome sequencing identifies a de novo @PHENOTYPICFEATURE$ in HDAC8 associated with @DISEASE$.	false
+3d5141a1c8e226fbe7a645e780fc2211e8e2144f	A commentary on exome sequencing identifies a de novo @PHENOTYPICFEATURE$ in HDAC8 associated with @DISEASE$.	false
+836caf380607d7637970d008f024d794ff4b5b62	@DISEASE$ (CdLS) is a rare congenital disease characterized by typical @PHENOTYPICFEATURE$, developmental disability, and limb deficiency defects.	false
+8d0d1f4ada55516908eceec41a0a45cf49d08e26	@DISEASE$ (CdLS) is characterized by @PHENOTYPICFEATURE$; hirsutism; internal organ anomalies, including diaphragmatic hernia, and limb defects.	false
+1da318c14d8817d1f87e7ad78ad1b9441975951a	Exome sequencing identifies a de novo @PHENOTYPICFEATURE$ in HDAC8 associated with @DISEASE$.	false
+f9b1c49ac461b3ed5c26de3f2148fd5f2ff87f43	@DISEASE$ is a rare genetic disease characterized by distinctive @PHENOTYPICFEATURE$ and dwarfism.	false
+363599599ac1b7c0ddadf9c499c55d2fc8095713	A novel familial prion disease causing @DISEASE$-autonomic-sensory neuropathy and @PHENOTYPICFEATURE$.	false
+4cb1cde7e0d4042b732fa4212b3a0dfed0bb8b3a	Epigastric and abdominal pain, @PHENOTYPICFEATURE$, weight loss and @DISEASE$-ileocolitis were predictive of upper gastrointestinal involvement (P < 0.05).	false
+fe8e321430729a7a202c599fce4bc64916d44ab3	Iritis, @PHENOTYPICFEATURE$, and sequential severe loss of vision in a patient with @DISEASE$.	false
+e062e4c966e40a23faf6af39af85345e010dd3fb	Recent studies have generated data demonstrating significant clinical activity of alpha-interferon therapy in each of six hematological malignancies, chronic myeloid leukaemia, @DISEASE$, polycythemia rubra vera, non-Hodgkin's lymphomas, multiple myelomatosis and hairy cell @PHENOTYPICFEATURE$.	false
+6119eeeebb8d491a010996b3549675de58f2c7e7	Reversible acute @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+9290a482b8ef3f2a2dd8b180720057f2050a3005	We treated a patient with @DISEASE$ who developed acute @PHENOTYPICFEATURE$ associated with marked thrombocytosis and in whom the hearing loss reversed after plateletpheresis.	false
+6cc77b6847bc5d56205c76e751a9818dbe893fe6	tET occurred 24.2 +/- 14.4 mo after diagnosis of @DISEASE$, and a majority of patients had hepatomegaly and/or splenomegaly, @PHENOTYPICFEATURE$, leukocytosis, and thrombocytopenia.	false
+f4a6c580bc9792e400f241f79201ba8e03c22853	For @DISEASE$, reported risk factors for leukemic transformation include advanced age, extreme thrombocytosis, @PHENOTYPICFEATURE$, leukocytosis, and sequence variants/mutations involving TP53 and EZH2 (for expansion of gene symbols, see www.genenames.org); for polycythemia vera, advanced age, leukocytosis, abnormal karyotype, mutations involving SRSF2 and IDH2, and treatment with pipobroman, chlorambucil, or P32; and for PMF, increased blast percentage, thrombocytopenia, abnormal karyotype, triple-negative driver mutational status, and sequence variants/mutations involving SRSF2, RUNX1, CEBPA, and SH2B3.	false
+d45b388069f682f20a594bf45e86d8cb2152a95f	The results indicated that CML mimicked @DISEASE$ (ET) at presentation was relatively rare and might be misdiagnosed as ET, bone marrow smear and biopsy revealed, marked @PHENOTYPICFEATURE$ and moderate leukocytosis; RT-PCR, FISH and conventional chromosomal analysis demonstrated the existence of Ph chromosome and bcr/abl fusion gene.	false
+52e786e67f069e1081417a962ec2d65ae305dad9	The theory is supported by numerous independent data from the literature, and provides a mechanistic link with otherwise unrelated disorders, such as cleft lip and palate, thyroid dysfunction, restless legs syndrome, depression, ataxia, hearing loss, fibromyalgia, dermatitis herpetiformis, schizophrenia, toxoplasmosis, anemia, osteopenia, Fabry disease, Barret's adenocarcinoma, neuroblastoma, urinary incontinence, recurrent miscarriage, @PHENOTYPICFEATURE$, reduced risk of breast cancer, @DISEASE$, etc.	false
+ff8c88e59334db364cc5fbebe258fb02546d602e	Neurological syndromes included limbic encephalitis, temporal lobe epilepsy, cerebellar ataxia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+b4d3fdaa6a4ab8e901c789ecaa698f3fc4df813b	Neuronal overexpression of cysteine-rich domain (@DISEASE$)-NRG1, the major brain isoform, caused unbalanced excitatory-inhibitory neurotransmission, reduced synaptic plasticity, @PHENOTYPICFEATURE$ growth, altered steady-state levels of synaptic plasticity-related proteins, and impaired sensorimotor gating.	false
+3f6aeb382860d0abdbf8ccbb291ce1fb6805c94f	@DISEASE$ was provoked by chronic glomerulonephritis (CGN)--41%, chronic interstitional nephritis--16%, diabetes mellitus--14%, renal polycystic disease--8%, amyloidosis--6%, @PHENOTYPICFEATURE$ nephrosclerosis--2%, other causes--3%, cases of unclear etiology--10%.	false
+8ceaf4b090f6c07a9f4df13c94c0f846bd7163c2	In the @DISEASE$ group, hyperglycemia and @PHENOTYPICFEATURE$ were induced accompanied by increasing plasma 3-nitrotyrosine (3-NT) levels, higher amounts of 3-NT and inducible nitric oxide synthase (iNOS) within pancreatic islets.	false
+fc90c0d59bdfab7c0c85702c2844bce075665edb	We report a case of type 2 @DISEASE$ with severe hepatosplenomegaly, anemia, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+c7d4132cf93286a2c160d8ed0b7dee77ef88e4ba	This case was a girl diagnosed with type 2 @DISEASE$ at 12months of age who presented with poor weight gain from infancy, stridor, @PHENOTYPICFEATURE$, hepatosplenomegaly, trismus and an eye movement disorder.	false
+d2c6d7cd10110d088e225c4cc26c6f15b92e7f74	Type 2 @DISEASE$ results in death in infancy, while type 3 disease causes variable neurologic manifestations ranging from minimal ocular effects to @PHENOTYPICFEATURE$, ataxia, and cognitive regression.	false
+a31d031aed3c16ec9ab389bffb3547a583d624f5	The characteristics of patients with acute neuronopathic- and chronic neuronopathic-type @DISEASE$ include oculomotor abnormalities, bulbar signs, limb rigidity, @PHENOTYPICFEATURE$ and occasional choreoathetoid movements, and neuronal loss.	false
+22b2f3895cfe5260fa66ab07dd6f62f37b8fb7bd	The clinical features in 2 second cousins with neuronopathic @DISEASE$ include slowly progressive ataxia, spasticity, myoclonus, and @PHENOTYPICFEATURE$ with relative preservation of intellectual function.	false
+4a7993d24a45fa8d21d45f0f491223f59677c6ad	The clinical features in 2 second cousins with neuronopathic @DISEASE$ include slowly progressive ataxia, @PHENOTYPICFEATURE$, myoclonus, and seizures with relative preservation of intellectual function.	false
+1738ac787d74f75360bcb1c14fa7adb8f2e7a1cc	Type 1 @DISEASE$ (GD1) is a lysosomal storage disorder associated with @PHENOTYPICFEATURE$ bone involvement.	false
+1d1eebbd4dbd3cbdce98aa66c72edd94d4ee5812	Vitreous opacities and retinal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0b17fb59bca9220b83b76c45996a4139fad11eb8	Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed mental retardation, @PHENOTYPICFEATURE$, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b @DISEASE$.	false
+09cdf209c328da81e6accf26a79e9e875fb91c8a	Here we present a 36 year old male patient presenting with hip pain showing bilateral avascular necrosis of femoral head with massive splenomegaly and on evaluation, showed @PHENOTYPICFEATURE$, seizures, bilateral vertical and horizontal gaze palsies and eventually turned out to be type 3b @DISEASE$.	false
+4ba53fb9b9c249603d834b4db014d042100e1b7a	Early visual @PHENOTYPICFEATURE$ and progressive myoclonus epilepsy in neuronopathic @DISEASE$ due to a rare compound heterozygosity (N188S/S107L).	false
+a5eba04f869e3daf786580853d6c4a087027d04d	This unusual presentation of @DISEASE$ indicates that if clinical and neurophysiological findings in adolescents with initial visual @PHENOTYPICFEATURE$ and myoclonus suggest a progressive disorder, enzymatic assay is mandatory, even in the absence of the classic neurologic and systemic signs of the disease.	false
+43f8b3e1a68ca07d6404b54af6b8d0774863053f	On the basis of cytology and membrane phenotype the following disorders were defined: (i) B cell type: chronic lymphocytic leukaemia (CLL); CLL of mixed cell type, which includes cases with more than 10% and less than 55% prolymphocytes (CLL/PL), and a less well defined form with pleomorphic lymphocytes but less than 10% prolymphocytes; prolymphocytic leukaemia (PLL); hairy cell leukaemia (HCL); HCL variant; splenic lymphoma with circulating villous lymphocytes; leukaemic phase of non-Hodgkin's lymphoma (@DISEASE$, intermediate, or mantle zone lymphoma and others); lymphoplasmacytic lymphoma with peripheral blood disease (mostly Waldenstr?m's macroglobulinaemia); and plasma cell @PHENOTYPICFEATURE$.	false
+b45592d1225bc9888ae418df8898bc1b2f1fb212	B-cell chronic lymphocytic leukaemia (B-CLL) patients were clearly distinguishable from leukaemic @DISEASE$ patients (LF-NHL, formerly lymphosarcoma cell @PHENOTYPICFEATURE$) and from a patient with a prolymphocytoid transformation (PLT) of the B-CLL according to the amount of the antigens for CD 5 and CD 20.	false
+20ad6d5beac7c820bbb0f799699db6c95e2b1cd9	The 114 leukaemias, including 58 cases of B-chronic lymphocytic leukaemia (B-CLL), 3 Waldenstr?m's macroglobulinaemia, 6 prolymphocytic leukaemia (B-PL), 13 B-CLL/PL, 4 B-CLL of mixed cell type, 8 splenic lymphoma with villous lymphocytes (SLVL), 8 hairy cell leukaemia (HCL), two HCL variant, three leukaemic phase of @DISEASE$, two leukaemic phase of intermediate lymphoma, two plasma cell @PHENOTYPICFEATURE$ and two chronic T-cell leukaemia, were investigated.	false
+231f4d8e41af2756829c919ab130e3ee5ec66150	Time trends were generally consistent with those reported in other jurisdictions in total HL and NHL incidence, but were unique in incidence for HL and for NHL subtypes chronic/small lymphocytic @PHENOTYPICFEATURE$/lymphoma, diffuse large B cell lymphoma and @DISEASE$.	false
+382c84b6c34ee46ce50936c68057156a04ec4b66	Rule 2 (emergency): malignancy was suspected if the MI was 7 or more and no @PHENOTYPICFEATURE$ of the @DISEASE$ was present.	false
+e572003e4690b22fbd7a0c620519f2b6129a67cf	Adults with CRS were prospectively evaluated by blinded reviewers with a novel Olfactory Cleft Endoscopy Scale (@DISEASE$) that evaluated discharge, polyps, @PHENOTYPICFEATURE$, crusting, and scarring of the olfactory cleft.	false
+fa7a2b598a60f4c61841519946f346081a723e06	This study aimed to analyse data from the DPV database with regard to frequency, treatment strategies and long-term complications in paediatric DM patients with genetic syndromes, including Turner syndrome (TS), Prader-Willi syndrome (PWS), Friedreich @PHENOTYPICFEATURE$ (FA), Alstr?m syndrome (AS), Klinefelter syndrome (KS), Bardet-Biedl syndrome (BBS), @DISEASE$ (BSS) and Down syndrome (DS).	false
+b27ce896651ef8239f92305a50108963a87a46ff	It is used in a variety of @PHENOTYPICFEATURE$ like hemi-@DISEASE$, focal dystonias like blepharospasm, cervical dystonia, oromandibular dystonia, limb dystonias.	false
+78e2e25824c1e4bfd39e95b1d2e2ee7343057cec	Despite the fact that renal biopsy was not performed in all children, the combination of an acute nonoliguric @PHENOTYPICFEATURE$ without hypertension and signs of tubular dysfunction together with particular benign course, suggested acute idiopathic @DISEASE$.	false
+e32a04805f0f80abe1e30f582926440a2e6ccf9b	To the knowledge of the authors, amyloid deposition in pituicytoma or @PHENOTYPICFEATURE$-associated @DISEASE$ has not been previously described.	false
+c92c9a129e25bb9984c7e2c49f5eb9bf988a4fb6	Growth retardation, alopecia, pseudoanodontia, and @PHENOTYPICFEATURE$ (GAPO syndrome) with @DISEASE$.	false
+c163660f8d8fae171b091ca1d6be0ff448cf5462	@DISEASE$ is an uncommon pediatric ocular disease contributing to a disproportionately high percentage of childhood @PHENOTYPICFEATURE$ worldwide.	false
+a656253647c335b31e639efd48131791f000eb13	Additional features, described previously, include @DISEASE$, hepatic fibrosis, polycystic kidneys, developmental delay and @PHENOTYPICFEATURE$.	false
+3f3f7967837e3d4febc72fa04c11a8a4120ab0a0	Mutations in CYP1B1 are also associated with childhood @PHENOTYPICFEATURE$ due to @DISEASE$ (PCG).	false
+6b8a6fb27a40251ede985454c7e9a8a6396a058a	@DISEASE$ is a disease potentially leading to @PHENOTYPICFEATURE$ in children.	false
+5900e3597d77a77cf2a54196605ed1ba15af7edc	The major causes of bilateral @PHENOTYPICFEATURE$ in children were retinal degeneration, @DISEASE$, and optic atrophy.	false
+74526c44dd832cab72b7cf3a80e8a95b250af684	The major causes of bilateral blindness in children were retinal degeneration, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+79740249522d2d3317296e945fd5969f9938ac5c	The abnormalities included @PHENOTYPICFEATURE$, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, @DISEASE$, and mental retardation.	false
+68f7b4a8b512f3e81c3fafe9b8bf8d857eddb802	Trisomy 18 (16-18) associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+22e9336956dd7c31ec837e1fa0abe474d84830ea	@DISEASE$--a preventable cause of @PHENOTYPICFEATURE$.	false
+e7eff0f3c4e0d8fe279d66ac8a5cd77613e4030e	A frequently overlooked cause of @PHENOTYPICFEATURE$ in infants; @DISEASE$.	false
+efe32bdd9ca5a3b253fe77cd75121c23a1c2415a	We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic @DISEASE$ auricles, and @PHENOTYPICFEATURE$.	false
+abb308670476689c399a498e152e2dcdb12112ef	CIC-DUX4 @PHENOTYPICFEATURE$ (CDS) is a group of rare, mesenchymal, @DISEASE$ round cell tumours that harbour the unique CIC-DUX4 translocation, which causes aberrant gene expression.	false
+90f53b40772ce542ac9c39c1744e000d11a4fbe8	@PHENOTYPICFEATURE$ is one of the earliest neurophysiologic abnormalities to manifest in distal @DISEASE$ fiber neuropathy.	false
+fbacc79a9bf267e17ba654f78724699bef1a825b	It is possible that bacterial toxins penetrate and provoke neuritis with bigger or @DISEASE$ @PHENOTYPICFEATURE$.	false
+ad417377d6e14747b5346feeac5f13bb01fb3a84	@DISEASE$ tumors (ie, < 3.5 cm) that cause minimal @PHENOTYPICFEATURE$ and are surgically accessible may be treated with either surgery or SRS.	false
+62d57056ba1ebe2f3c756be21bf2077c0d577d2d	As less force is required, @DISEASE$ bone @PHENOTYPICFEATURE$ patterns result.	false
+8865288745068d7b56f0595c8d7a231b6e106679	A family with autosomal dominant inherited dysmorphic @DISEASE$ auricles, @PHENOTYPICFEATURE$, and congenital conductive hearing impairment.	false
+95b62ab5fdad5e2e3f88483b54ca9b0e467b916f	By 24 to 48 hr, liver cell @PHENOTYPICFEATURE$ and @DISEASE$ focal lesions were prominent.	false
+3abc4138bf1b3c30f1ad55b8edfd7a26ec75dc20	NBO slowed the progression of ischemic BBB damage pathogenesis, evidenced by reduced Evan blue leakage, @DISEASE$ @PHENOTYPICFEATURE$, and hemorrhagic volume in NBO-treated rats.	false
+d83b290e5a9165dbe4d500bfc2a6d3ed032999b5	This effect is reflected in a reduction of infarct size, @DISEASE$ @PHENOTYPICFEATURE$ volume, and lower sensorimotor deficits with respect to controls.	false
+c58e24954ae20a27f27af68c871bbf024fa32e35	Postoperative @PHENOTYPICFEATURE$ and undiagnosed @DISEASE$.	false
+5361dd0f735f746f84d44f8cd60ebfa9ca5bc94d	[@DISEASE$ with symptoms of struma and @PHENOTYPICFEATURE$].	false
+02cd4e9fc6c9dcc1e5f066982019a66563168507	Behind @PHENOTYPICFEATURE$ syndrome: remember @DISEASE$.	false
+ab66914757069b3d7f1b63068b3201f4d18af59d	Resolution of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+4854e1346e4f645a456cc290aeade8dd2a57aee5	Systemic @DISEASE$ presenting with rapid progressive @PHENOTYPICFEATURE$.	false
+1bbf5af16863c38b68861d6cbc344137426b95f6	Patients with @DISEASE$ often present with signs of @PHENOTYPICFEATURE$.	false
+3699b5a68733d4fe2e165c310624915f769d6240	@DISEASE$ presenting with peripheral neuritis and intractable @PHENOTYPICFEATURE$.	false
+cb3abb2f02009c469527d2af1144b2585a3e5ceb	F]florbetapir lung uptake represents @DISEASE$ rather than @PHENOTYPICFEATURE$.	false
+a3b54cfdf49037547e00ca53586e42e556b3af04	Continuous ambulatory peritoneal dialysis as a promising therapy for @DISEASE$ with @PHENOTYPICFEATURE$.	false
+e2d812db65df763169690d27596759b82d6aceaa	Isolated cardiac involvement in @DISEASE$: presenting as sick sinus syndrome and @PHENOTYPICFEATURE$.	false
+1b73347c817f4ecca9701c865c9106f2ec1df2bf	Combination chemotherapy may prove effective in the treatment of @DISEASE$ with ectopic ACTH syndrome, hypothyroidism and @PHENOTYPICFEATURE$.	false
+0bd4da7ed1e5ca0ecf5ea08aff5de0fff3e10fd3	Cisplatin (Platinol) is an active chemotherapeutic agent used to treat @DISEASE$, but its toxicity, including @PHENOTYPICFEATURE$, nephrotoxicity, neurotoxicity, and ototoxicity, has led to the investigation of combination regimens with different toxicity profiles.	false
+a4d7b71b6d294b8de11b22bc2023bb9b48fe815c	A 66-yr-old man with a history of squamous cell carcinoma and @DISEASE$ presented with nausea, vomiting, and @PHENOTYPICFEATURE$.	false
+f49e72a5381f9ea3ee2de1a71715e54589e983d9	A 66-yr-old man with a history of squamous cell carcinoma and @DISEASE$ presented with nausea, @PHENOTYPICFEATURE$, and abdominal pain.	false
+00abc477a2dfa8085f178709a2383ed20e2f35df	Etoposide combined cisplatin (EP) is the most commonly-used first-line treatment combination chemotherapy regimen in the treatment of extensive-stage @DISEASE$ (SCLC), The side-effects of cisplatin, such as @PHENOTYPICFEATURE$, influence patients' quality of life.	false
+13ef09c6447913fb18a66b33fe6175d61d2d8069	@PHENOTYPICFEATURE$ in patients with @DISEASE$ before and after chemotherapy.	false
+b7fd2fc105fdb1883ac2694c3e8cc3587f9ede62	Hereby, we report a case initially presenting with gastroenterologic symptoms as jaundice, nausea, @PHENOTYPICFEATURE$, weight loss and abdominal pain and then diagnosed as primary @DISEASE$ with metastasis to pancreas.	false
+373b8678e2eb6701560fc24aa1b83e66986ae696	A 65-year-old Caucasian woman presented with @PHENOTYPICFEATURE$ and increasing confusion shortly after a lung biopsy that led to the diagnosis of @DISEASE$.	false
+22124815044f8033a104636e2cffd58e6dad8c76	Six patients with @DISEASE$ developed a slowly progressive neurologic syndrome characterized by apathy, abulia, memory loss, @PHENOTYPICFEATURE$, and corticospinal tract signs 26 to 50 months (mean, 35.2 months) after prophylactic cranial irradiation and systemic chemotherapy.	false
+b9f956fdd297ed46618543a4bcc107a3c71888c4	Quality of life was assessed in 57 patients with limited @DISEASE$ utilizing psychological scales that measured mood, functional status, and @PHENOTYPICFEATURE$.	false
+9671d0f978394fe76116282dd0467e87e73eb043	We report the case of a 68-year-old female with @DISEASE$ (SCLC) and interstitial @PHENOTYPICFEATURE$ who was diagnosed first with dermatomyositis positive for serum anti-TIF-1? antibodies.	false
+293b8bc6c2f85a560b36c7dbac174ae93849b636	Many @DISEASE$ disorders are associated with @PHENOTYPICFEATURE$, but few present specifically with total anomalous pulmonary venous drainage (TAPVD).	false
+57a25db803bfb0b08146531cd69b48560e25b4c2	The highest frequency of P-SCAD occurred during the first postpartum month and P-@DISEASE$ patients less often had extracoronary @PHENOTYPICFEATURE$.	false
+de2a2964859d67dab9e0150b9805d18abdf6973c	Among patients with ethylmalonic aciduria, a subgroup with @PHENOTYPICFEATURE$, petechial skin lesions, and often death in infancy is distinct from those with @DISEASE$ or multiple acyl-coenzyme A dehydrogenase deficiency.	false
+628ea767f4f55bd90bce15a3b3a32d4bfc55cea6	Spontaneous coronary artery dissection (@DISEASE$) is associated with extracoronary @PHENOTYPICFEATURE$, which depending on type and location may warrant treatment or provide additional diagnostic or prognostic information about this uncommon entity.	false
+ec13de300cb79c6ba8e1996245533f3d1ab5f7f8	We conclude that @DISEASE$ should be considered in the differential diagnosis of gyral @PHENOTYPICFEATURE$ hypoplasia, and infantile spasms.	false
+8ed8101e7d03b7b7797d344a15b253358e79e731	Ethylmalonic aciduria is a common finding in patients affected by short-chain acyl-CoA dehydrogenase (@DISEASE$) deficiency and other diseases characterized by @PHENOTYPICFEATURE$, muscular symptomatology, and lactic acidemia.	false
+9efd927b3bc109ecf2e7595113ac153c73ac5197	Patients with @DISEASE$ in this study often had multiple coronary territories involved (13%) and extracardiac @PHENOTYPICFEATURE$, suggesting a systemic vascular process, which may explain the high incidence of migraine.	false
+882fff19e7acda41b0b6994084c83b80dc0f8550	GQ1b antibodies are associated with @DISEASE$, GBS, Bickerstaff brainstem @PHENOTYPICFEATURE$ and PCB; they form an overlapping spectrum of features, hence the anti-GQ1b syndrome.	false
+f8eed45d04938e2e2d6d4a8aa2d9d5d19ec79520	One patient (1.7%) had associated vernal @PHENOTYPICFEATURE$ (VKC), 1 (1.7%) had @DISEASE$, and 1 (1.7%) had ocular hypertension.	false
+18096e03f355c24f143f70c72bba0e2060c11d48	Anti-GQ1b antibodies can be detected in the serum of patients with Miller Fisher syndrome (@DISEASE$) and its incomplete forms such as acute ophthalmoparesis (AO), acute ptosis, acute mydriasis, acute oropharyngeal palsy and acute ataxic neuropathy (AAN), as well as in pharyngeal-cervical-brachial weakness, Bickerstaff brainstem @PHENOTYPICFEATURE$ (BBE) and in overlap syndromes with Guillain-Barr? syndrome (MFS-GBS, BBE-GBS).	false
+3e11656a2f5b6c352b1811d84733bfaa32af4f6a	As a conclusion, in @DISEASE$ @PHENOTYPICFEATURE$ is always present with severe sensitive changes and moderate motor changes (This is different as compared to Guillain Barr? syndrome according to electrophysiological data).	false
+ae612b6ea77023ca12f56865d05ddc45121de748	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant @DISEASE$ characterized by a high degree of clinical variability and apparently isolated early @PHENOTYPICFEATURE$ familial abdominal aortic aneurysms.	false
+aba31ad15e46b548414a07e79d397d7ff0ce61e1	Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, @PHENOTYPICFEATURE$, anterior segment dysgenesis, @DISEASE$, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and familial exudative vitreoretinopathy.	false
+cc1127eab1a6cca8b6b6a86c14dc90c0d2828791	Although the clinical manifestations such as @PHENOTYPICFEATURE$, brisk reflexes, extensor plantar responses and hemisensory disturbance usually are considered to suggest Bickerstaff's brainstem encephalitis (BBE) rather than Miller Fisher syndrome (MFS), the nosological relationship between BBE and @DISEASE$ has yet to be established.	false
+4f2f29b970d01bec14751893973c1d3fb29648f0	Although the clinical manifestations such as @PHENOTYPICFEATURE$, brisk reflexes, extensor plantar responses and hemisensory disturbance usually are considered to suggest Bickerstaff's brainstem encephalitis (BBE) rather than Miller Fisher syndrome (@DISEASE$), the nosological relationship between BBE and MFS has yet to be established.	false
+aad012a37f306ca37a35b842ed1c019e837e30a4	We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, @DISEASE$, @PHENOTYPICFEATURE$ Type I, and Loeys-Dietz syndrome.	false
+1652398f4301fd766d62d78e699f97a94c4364d3	Renal @PHENOTYPICFEATURE$ in the @DISEASE$.	false
+41358ff39e86b9a0d01fc3253259e5d4f89077b8	Recently, the gene responsible for @DISEASE$ syndrome has been identified as the HRPT2 @PHENOTYPICFEATURE$ suppressor gene.	false
+70ec4aafc423ac0b17c7ec7c6e1645c59d86c8cf	Thus, our studies, which have established mouse models for parathyroid tumours and uterine neoplasms that develop in the @DISEASE$ syndrome, provide in vivo models for future studies of these @PHENOTYPICFEATURE$.	false
+33883c47c5c4a942319ccaaba436817b9d6f4315	Thus, our studies, which have established mouse models for parathyroid @PHENOTYPICFEATURE$ and uterine neoplasms that develop in the @DISEASE$ syndrome, provide in vivo models for future studies of these tumours.	false
+db9f95f418143e7eb510c73de16611c180be928e	These samples included six @DISEASE$-related @PHENOTYPICFEATURE$ and 24 sporadic carcinomas.	false
+4b1a27662fa50ad341189fa29aba62217d766036	The association between the primary hyperparathyroidism, the mandibular @PHENOTYPICFEATURE$, the clinical history and the nuclear imaging lead to the diagnosis of primary @DISEASE$.	false
+ce144d141ac383dacfc88ad05dd6522722ca602e	The HRPT2 (hereditary @DISEASE$) @PHENOTYPICFEATURE$ suppressor gene encodes a ubiquitously expressed 531 amino acid protein termed parafibromin.	false
+95f166b28510d9e71e30b5ea962f0f65363ffcfa	The association of PHPT with a right jaw @PHENOTYPICFEATURE$ and uterine fibroma suggested the diagnosis of @DISEASE$ syndrome.	false
+dfc24a7e35253601c1ae6a3da3894c45ca1406c8	@DISEASE$ (HPT-JT) is a rare disease caused by CDC73 germline mutations, with familial primary hyperparathyroidism (pHPT), ossifying jaw @PHENOTYPICFEATURE$, genito-urinary neoplasms.	false
+973a9861eb1fba4a1bdaf1711f682301938f7e99	HRPT2, a @PHENOTYPICFEATURE$ suppressor gene for @DISEASE$.	false
+1b57cb949b46873cd946a37668cdbc4bbec3811e	Parafibromin, a component of the RNA polymerase II-associated PAF1 complex, is a @PHENOTYPICFEATURE$ suppressor linked to @DISEASE$ and sporadic parathyroid carcinoma.	false
+ea686965961c199529f39cbd1e505c832f55af52	The authors describe two patients with @PHENOTYPICFEATURE$ and @DISEASE$ hypoglycemia and suggest that clinicians should recognize the possibility of serious neuropsychiatric sequelae of postgastrectomy hypoglycemia.	false
+d4a854c92533f6b81106743e237fb0d9ddaeaab9	Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with @DISEASE$, and an Arab family with focal epilepsy and @PHENOTYPICFEATURE$ syndrome.	false
+fdd3f16c9139509a12c5f4e257be6c25f4e52d49	Among the many possible clinical features are @DISEASE$ (PCP), cytomegalovirus infection, @PHENOTYPICFEATURE$, encephalopathy, recurrent bacterial infection, thrush, lymphoid interstitial pneumonitis, lymphadenopathy, pancreatis, hepatitis, anemia, and thrombocytopenia.	false
+2b7e3120f14e6b818046bf72a2b950b17c94806b	Of the remaining eight deaths, four were from respiratory failure in four patients (one case each of @DISEASE$, CMV pneumonia, bronchiolitis obliterans associated with chronic graft-versus-host disease, and interstitial pneumonitis complicated pulmonary emboli), and one patient each from GI bleeding, @PHENOTYPICFEATURE$, sepsis and CNS bleeding.	false
+551dd72f90230e812ad16b3a2280d8dd0677fe43	We report a 4-month-old female who presented with @PHENOTYPICFEATURE$, normocytic anemia, @DISEASE$ and systemic cytomegalovirus infection.	false
+b385b1e17d447ae3b3838421ef134e32d34fbf8d	[Fever, @PHENOTYPICFEATURE$, eosinophilia and acute pneumonia: bilateral, diffuse @DISEASE$ and Candida pneumonia of the left lung (evaluation of eosinophilia)].	false
+172d22db20d42cbdf336f2f1e57186a42a8cd946	Decreased long-term survival after the diagnosis of @DISEASE$ correlated with the severity of interstitial @PHENOTYPICFEATURE$ (a component of diffuse alveolar damage) on initial transbronchial biopsy and elevation of AaPO2 at the time of diagnosis (Cox proportional hazards analysis, p less than 0.05).	false
+bcd07e416b76c51226a17ecf4392aa43ea09b1c9	Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with @DISEASE$ mutants including open eyelids, @PHENOTYPICFEATURE$ and disrupted cochlear stereociliary bundles.	false
+dada97d9b2788e6c7e873c617c84de8008b04d3f	Forty-one patients presented with infectious diseases (paracoccidioidomycosis, TB, zygomycosis, invasive pulmonary aspergillosis, @DISEASE$ jiroveci pneumonia, histoplasmosis, cryptococcosis), and 38 presented with noninfectious diseases (cryptogenic organizing pneumonia, pulmonary embolism, sarcoidosis, @PHENOTYPICFEATURE$, lepidic predominant adenocarcinoma [formerly bronchiolo-alveolar carcinoma], granulomatosis with polyangiitis [Wegener]).	false
+e85b6a74394c8bb7e6510ea833aa1fdce5e3c958	VATER association is the tendency for 5 specific anomalies (vertebral and vascular anomalies [V], anal atresia [A], @DISEASE$ [TE], and radial and @PHENOTYPICFEATURE$ [R]) to occur together in one individual.	false
+3b6bbc2a07c808e1dc14a99557e50e58130672ec	We describe new syndrome-@PHENOTYPICFEATURE$ associations in several entities: @DISEASE$ (Wilms tumor), Bardet-Biedl syndrome (BBS) (acute lymphoblastic leukemia), Kabuki syndrome (neuroblastoma), LEOPARD syndrome (neuroblastoma), Poland anomaly (osteosarcoma; Hodgkin disease), and blepharophimosis epicanthus inversus syndrome (Burkitt lymphoma).	false
+078314d28a365216389ad24f97ecbc53cc5ac098	The three mammalian runx genes are oncogenes with essential functions in normal development: Runx1 is required for hematopoiesis and is frequently mutated in human and murine leukemias; Runx2 is required for bone development and is associated with human @DISEASE$ and murine leukemias; and Runx3 (the evolutionarily basal member of the mammalian family) regulates growth of the gut and functions as a @PHENOTYPICFEATURE$ suppressor in the gastric epithelium (Westendorf and Hiebert, 1999; Li et al., 2002).	false
+eb4dd77caaba4773643e00dab38ed23072ad3efc	RUNX genes, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ad755cce4036f8491ad31630b1c074c0d83907e0	Inappropriate levels of RUNX activity are associated with leukemia, autoimmune disease, @DISEASE$, craniosynostosis and various solid @PHENOTYPICFEATURE$.	false
+b705f6b5a4ad4e4ed1fc45b5399159172fa8d2b6	It also plays major roles in chondrocyte maturation, mesenchymal stem cell differentiation, @DISEASE$, and the growth and metastasis of @PHENOTYPICFEATURE$.	false
+331265fbefb2be366dc0f7a5731c65f5ab23976c	We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking @DISEASE$), relative macroencephaly with @PHENOTYPICFEATURE$, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay.	false
+93b150bb1a66d3065c7eadd17ae319113f8886fd	Twenty-four multiple sclerosis patients were included in the study; 13 underwent surgery and were matched against 11 controls on the basis of age, sex, expanded @PHENOTYPICFEATURE$ system scores (@DISEASE$) and disease duration.	false
+80ce1bebfd52797cc9acc85499bd9e8dd10a9a83	Clinical assessments including @PHENOTYPICFEATURE$, disability (@DISEASE$), mobility (walking distance, and timed 25-foot walk), bladder function, and quality of life were carried out prior to and at the end of each treatment cycle.	false
+87efa2301b31364edd3cbb49730bae326e01da3f	Ectodermal dysplasia syndactyly syndrome (@DISEASE$) is a rare, newly described type of ED involving @PHENOTYPICFEATURE$.	false
+a782c61c65004e55459ae64990e214018390bc54	@DISEASE$ (EDSS) is a rare, newly described type of ED involving @PHENOTYPICFEATURE$.	false
+f206e09a52fc5840188e64f6d90c7d7b5fce95de	Hereditary sensory neuropathy with @PHENOTYPICFEATURE$: a familial @DISEASE$.	false
+619f06897524a6a289e75c8c73d276ff507eb450	All remaining patients were diagnosed with new CNS disorders including: vascular (37%); myelopathies (13%); demyelinating (11%); space occupying lesions (8.7%); syringomyelia (8.7%); @PHENOTYPICFEATURE$ (6.5%); Vitamin B-12 deficiency (4.3%); @DISEASE$ (4.3%); and toxins (2.2%).	false
+9579af0a38fbe1a874134016fa176e57fb9e4604	Several potential causes of orthostatic hypotension include medications; non-neurogenic causes such as impaired venous return, hypovolemia, and @PHENOTYPICFEATURE$; and neurogenic causes such as @DISEASE$ and diabetic neuropathy.	false
+7816c6581584ea2c15fa4dbad500a1ab90b1a2eb	The finding of cell loss and gliosis in the thalamus in nuclei that do not subserve these two pathways as well as in the red nuclei, inferiro olivary nuclei, and claustrum suggested that HSN-I with @PHENOTYPICFEATURE$ is nosologically related to familial @DISEASE$.	false
+bd959720cf3eab408ba0f871df18ab2e973e19f7	Sleep-related stridor due to dystonic vocal cord motion and neurogenic tachypnea/@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b0c5b50d7c1a12a1206d60bdb444eb8310d8f68c	The autonomic dysfunction pattern (mainly @PHENOTYPICFEATURE$, mydriasis) seems to differ somewhat from that of progressive autonomic failure (@DISEASE$).	false
+44e77c9b9227e5a61c19423fdb43f4c2b69ba7a1	ischemic heart disease, cardiac arrhythmia and @PHENOTYPICFEATURE$) and bilateral vocal cord paralysis caused by @DISEASE$ as common OSAS.	false
+4e48bea17212ed0c6d58e191bf5fdba086942320	However, the normal pattern of circadian blood pressure rhythm is reversed in elderly people and in those with Cushing's syndrome, those undergoing glucocorticoid treatment, and those with hyperthyroidism, central and/or peripheral autonomic dysfunction (@DISEASE$, tetraplegia, diabetic or uremic neuropathy, etc), chronic renal failure, renal or cardiac transplantation, @PHENOTYPICFEATURE$, eclampsia, sleep apnea syndrome, malignant hypertension, systemic atherosclerosis and accelerated hypertensive organ damage.	false
+21aa7ee59a6dd94b6b2e49dc2ed278f692245eb5	@DISEASE$ may lead to blindness and causes @PHENOTYPICFEATURE$ in 58% of cases and, more rarely, ocular motor disorder.	false
+bbc74a952a4635c66fda820f19743d3eaa238f26	They might be familial and associated with hereditary @PHENOTYPICFEATURE$ such as Von Hippel-Lindau syndrome and @DISEASE$.	false
+1c6fb499ab6dc25b662555e88b65e9b9269f1cd5	Relatively good prognosis of @DISEASE$ in Japanese: review of cases in Japan and analysis of genetic changes in @PHENOTYPICFEATURE$.	false
+3beebe4866616b9185113702f345d45894f45d7d	@DISEASE$ (MEN IIb) is an endocrine disorder which can manifest with @PHENOTYPICFEATURE$ such as pheochromocytomas and neuromas.	false
+0adcc1074eafacde81ca185e3e50e9af0c23e9dc	Four mixed neuroendocrine-neural tumors, two multiple endocrine neoplasia type I tumors, and two @DISEASE$ @PHENOTYPICFEATURE$ were included in this study.	false
+f8fae9cfc99dcad1e69c9979f70e7d5417c92584	Four mixed neuroendocrine-neural tumors, two multiple endocrine neoplasia type I @PHENOTYPICFEATURE$, and two @DISEASE$ tumors were included in this study.	false
+3d848653165660c850089048c8d47a554f5654c4	Mucosal neuroma is rare neurogenic @PHENOTYPICFEATURE$ that arises in the oral cavity as a component of @DISEASE$ (MEN 2b).	false
+f5b26c4f44a1b11306df2e60018fedb336e07219	Re: Clinical value of @PHENOTYPICFEATURE$ doubling estimations in @DISEASE$.	false
+1c572c28a05eba4927968a064f4ccd462f8ea81f	Expression profiles provide insights into early malignant potential and skeletal abnormalities in @DISEASE$ syndrome @PHENOTYPICFEATURE$.	false
+e5c40e87e2bb711a263a3192335e172e8ea98efd	Clinical value of @PHENOTYPICFEATURE$ doubling estimations in @DISEASE$.	false
+0f1f74a21974522a79b216612669281e3f950052	Pheochromocytoma in @DISEASE$: an example of the two-hit theory of @PHENOTYPICFEATURE$.	false
+5b3ad567ee6db276a6616cd8560bce681e43f230	This is the first demonstrated case of a CRH-secreting @PHENOTYPICFEATURE$ in multiple endocrine neoplasia (@DISEASE$) syndrome.	false
+86e17784b60d59142e728e40d7a55eac2786cce6	These include: insulin resistance, glucose intolerance, diabetes mellitus, hypertension, dyslipidemia, @PHENOTYPICFEATURE$, arthritis, hyperuricemia, @DISEASE$, and certain types of cancer.	false
+51145e324900ac57161ab8cfcb4f3ce024ad539e	These include: insulin resistance, glucose intolerance, diabetes mellitus, hypertension, dyslipidemia, sleep apnea, arthritis, @PHENOTYPICFEATURE$, @DISEASE$, and certain types of cancer.	false
+ab5df5edd5f5497390bdce05f58282175630ffdd	It induces several serious chronic diseases such as cardiovascular disease, dyslipidemia, @DISEASE$, hypertension, osteoarthritis, @PHENOTYPICFEATURE$, stroke, and type 2 diabetes mellitus.	false
+2e5c7d5af54923a380dca6a9de8ae2387b0513e9	Obesity is a growing epidemic in the USA, which leads to comorbidities associated with diseases such as hypertension, diabetes, @PHENOTYPICFEATURE$, cardiovascular disease, osteoarthritis, cancer, @DISEASE$, and dyslipidemia.	false
+df7ec8c897e248c84ba9fd280b10896dcce70a55	Obese patients are at an increased risk for developing many medical problems, including insulin resistance and type 2 diabetes mellitus, hypertension, dyslipidemia, cardiovascular disease, stroke, sleep apnea, @DISEASE$, @PHENOTYPICFEATURE$ and gout, and osteoarthritis.	false
+e0283524e9cddcf1d6973615392e64e2b8214a33	Obese patients are at an increased risk for developing many medical problems, including insulin resistance and type 2 diabetes mellitus, hypertension, dyslipidemia, cardiovascular disease, stroke, @PHENOTYPICFEATURE$, @DISEASE$, hyperuricemia and gout, and osteoarthritis.	false
+2d9ddf04d1fc088f6b39051611fd90201d0d7a8c	Overweight or obesity is strongly associated with comorbidities such as type 2 diabetes mellitus, hypertension, heart disease, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+40361968325d327ae545ba0b961f2a631eb316b1	Obesity is a major public health problem and substantially increases the risk of type 2 diabetes, hypertension, stroke, cardiovascular, respiratory problems, @DISEASE$, osteoarthritis and @PHENOTYPICFEATURE$, as well as certain cancers.	false
+95d1d2a1c1b105728335746afd43bf68e15b7245	In this context, this article discusses features of @PHENOTYPICFEATURE$, choledochal cyst, @DISEASE$, and liver abscess in the infant, child, and adolescent.	false
+793f67c1364742b3b2435f901dc3e0f7289eb969	Diabetes, obesity, @PHENOTYPICFEATURE$, and @DISEASE$ were examined to explore the trend of the disease burden.	false
+3b86f4ef8d81acfa17e02128de1d55a98eaa2cdf	@PHENOTYPICFEATURE$, choledochal cysts, @DISEASE$, and Alagille syndrome can be associated with similar clinical symptoms, laboratory findings, and radiographic findings, which makes accurate diagnosis difficult.	false
+7943ba239d9774bdebafae95a3bd5cf5579ff058	Second, the risk of diabetes, @DISEASE$, hypertension, heart disease, osteoarthritis, @PHENOTYPICFEATURE$, and certain forms of cancer also increase.	false
+e2061e09ced0cc0f6bf5cf704debaa9e6bfcdb43	@PHENOTYPICFEATURE$ and @DISEASE$ (SCD) are common chronic conditions in children of African ancestry that are characterized by cough, wheeze, and obstructive patterns on pulmonary function.	false
+b1de03bdc29489efed0dc2cca929ca85a7a681c3	@PHENOTYPICFEATURE$ and @DISEASE$: two distinct diseases or part of the same process?	false
+a319baf049f63d73a0c3c9ce91ee59dcaba0d3f3	@PHENOTYPICFEATURE$ and pulmonary infarction in @DISEASE$.	false
+d2ddf93ee0461f8ad162aa76d927d5889a6e454e	A 17-year-old female patient, known case of @DISEASE$ was admitted to our hospital with 10 days history of fever, @PHENOTYPICFEATURE$, and epigastric pain.	false
+f652f2a73b971350f4350b29738d68378b900018	@PHENOTYPICFEATURE$ is a major neurological complication of @DISEASE$ (SCA) in the United States, but there are limited studies of cognitive impairment in Nigeria, the country with the highest SCA burden.	false
+8d0d7f2b69aed4e717597c6d3a3aa7b804c5369c	@DISEASE$ (SCD) is an inherited blood disorder characterized by a chronic hemolytic anemia that can contribute to fatigue and global @PHENOTYPICFEATURE$ in patients.	false
+3e2375df60d39cbf984f2cab937b2820c47731e2	Children with @DISEASE$ (SCD) commonly have @PHENOTYPICFEATURE$, even among toddlers.	false
+206e1720ca26d1fd42eb9d180b615f6ec94f28a3	Children with @DISEASE$ (SS) have an increased risk for cerebral vasculopathy with stroke (CVA) and @PHENOTYPICFEATURE$.	false
+97a724c8fa002da7f6516eea21f9f4766e8ad579	We report a 20-year-old woman with @DISEASE$ (SCD) who presented with a severe pulsating headache, @PHENOTYPICFEATURE$.	false
+7d911f2087d6a50d76f59ab6db95e9ed730bdfd8	@DISEASE$ (SCD) is characterized by chronic hemolytic anemia and vascular occlusion, causing recurrent painful episodes, neuro-@PHENOTYPICFEATURE$, organ failures and death in early adulthood.	false
+c19a1edaa41cd7225b911b93cb3d1670a3131539	We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent @PHENOTYPICFEATURE$, may be an rarely recognized manifestation of @DISEASE$.	false
+46b33d37dbd328e1206d116ef12b83b556387790	@PHENOTYPICFEATURE$ of oral mucosa and facial skin, a novel feature of @DISEASE$.	false
+bf575ad2a89d4edb1af20b73a58b6daef4b333c3	Coronary artery spasm (@DISEASE$) could cause serious lethal @PHENOTYPICFEATURE$.	false
+441b1d363d1ccb3a92026d7f9c5b19c2f953be7e	The occurrence of transient ischemic attack, transient monocular @PHENOTYPICFEATURE$, and stroke during the @DISEASE$ procedure was considered CVSs.	false
+1316ce8c6a65a0e63d2ee72a2ed8bf3815895393	In contrast, retinal ischemic monocular @PHENOTYPICFEATURE$ is traditionally considered most linked to carotid artery disease (@DISEASE$) and investigating for AF is less vigilant.	false
+43d8ac6ad080ca927ff4c3cd69f3fa75b01ef3d0	The differential diagnosis of @DISEASE$ includes an overdose of anaesthetic drugs or an alteration in pharmacokinetics, altered hydratation, electrolyte or acid-base state, @PHENOTYPICFEATURE$, hypoxia, hypercapnia, hypocapnia, hyperthermia, hypothermia, hormonal disorders, neurological damage resulting from surgery, embolism, haemorrhage or trauma.	false
+23872a03fa0efcfb78f9974520ab9f217716d149	The differential diagnosis of @DISEASE$ includes an overdose of anaesthetic drugs or an alteration in pharmacokinetics, altered hydratation, electrolyte or acid-base state, hypoglycaemia, hypoxia, hypercapnia, hypocapnia, @PHENOTYPICFEATURE$, hypothermia, hormonal disorders, neurological damage resulting from surgery, embolism, haemorrhage or trauma.	false
+a8d053f5eda0b611253176e9204562f3f30ed769	Progression of peritoneal metastasis, as with other advanced malignancies, is associated with cancer @PHENOTYPICFEATURE$ anorexia syndrome (@DISEASE$), involving poor appetite (anorexia), involuntary weight loss, and chronic inflammation.	false
+f1721d2d608b099399e36244801b19b4b83e7b18	Of the 16 patients with a type I Brugada ECG, 2 had @DISEASE$ alone, 8 had @PHENOTYPICFEATURE$ alone, and 6 had both positive.	false
+c6761cf5ac38bb3ba4a5c7c5c8d094d80af4c139	For patients with @PHENOTYPICFEATURE$ and neutropenia, the efficacy of @DISEASE$ is non inferior than Ambisome.	false
+7f9f122a05c0900296a400ed5460149dae5c72c2	Among OHCA survivors without structural heart disease, provokable @DISEASE$ and @PHENOTYPICFEATURE$ are common and can be seen in Brugada syndrome.	false
+a00be0810a1cb5c62275032b1fd1e51d4026da05	Calcium alkali syndrome (@DISEASE$), a relatively unusual etiology of @PHENOTYPICFEATURE$, is characterized by a classical triad of hypercalcemia, azotemia, and metabolic alkalosis.	false
+5ce5f59339e731703bc582e029c1edecd770faa6	Coronary artery spasm (@DISEASE$) is associated with @PHENOTYPICFEATURE$ (VA).	false
+7be00aef5d56ccc68efa232dc4909ab3ced1c67b	Autopsy case of @DISEASE$ with a large submucosal @PHENOTYPICFEATURE$ in the stomach.	false
+eae5af5e49ba5af0739eaebd8dedfe8ce58a4736	We described a patient with intracerebral amyloidoma associated with a localised @DISEASE$ and no systemic paraproteinaemia, @PHENOTYPICFEATURE$ or amyloid deposits.	false
+b1cd9a940a812a565f4e398d4caed1a32b09bb8b	By activating the host immune system against the @PHENOTYPICFEATURE$ antigen, we postulate that disease control of asymptomatic phase @DISEASE$ can be maintained.	false
+214179b75ca080e938b2fb48a36d1696aea89352	Waldenstrom's macroglobulinemia (WM) is a rare @DISEASE$ characterized by a wide range of clinical presentations related to direct @PHENOTYPICFEATURE$ infiltration and the production of IgM.	false
+b10ff19f61a90f6bde3cef2ff313e300eecd6b34	Familial aggregation of @DISEASE$/Waldenstr?m macroglobulinemia with solid @PHENOTYPICFEATURE$ and myeloid malignancies.	false
+c28bcad4a56396bae93a760d6d406a87304c1051	Familial aggregation of @DISEASE$ with non-Hodgkin lymphoma and other @PHENOTYPICFEATURE$.	false
+1a0426d3673314b297b3a1b441d91d9629712589	Waldenstrom's macroglobulinemia (WM, @DISEASE$) is a B-cell lymphoproliferative disorder in which CD20 is expressed on @PHENOTYPICFEATURE$ cells from most patients.	false
+58df89ad61ef31ff0e911fd21a444655c288fe7b	An autopsy case of @DISEASE$ with a large submucosal @PHENOTYPICFEATURE$ in the stomach is presented.	false
+2add4309ac98c3e23310c66ee861ee34748b2a9b	C1013G/CXCR4 acts as a driver mutation of @PHENOTYPICFEATURE$ progression and modulator of drug resistance in @DISEASE$.	false
+4a888145ffc61fd506bab17181dd5866cfbba6e9	Waldenstrom macroglobulinemia is a rare @DISEASE$ characterized by a wide range of clinical presentations related to direct @PHENOTYPICFEATURE$ infiltration and the production of IgM.	false
+9ac39187779f2ada7b1a328af7e7f617546671ab	Mutations affecting the family of C-P4Hs, and in particular C-P4H-I, should be considered in patients presenting with congenital connective tissue/myopathy overlap disorders with joint hypermobility, contractures, mild @PHENOTYPICFEATURE$ and high @DISEASE$.	false
+c4eede2aa72c9368fd64da36558a6004eb159e3f	Mutations affecting the family of C-P4Hs, and in particular C-P4H-I, should be considered in patients presenting with congenital connective tissue/myopathy overlap disorders with joint hypermobility, @PHENOTYPICFEATURE$, mild skeletal dysplasia and high @DISEASE$.	false
+dbff258ae1f2d4be9b1e2389aa3a634bb208531c	There is no conclusive evidence thus far that alteration of the pattern of spectacle wear, bifocals, ocular @PHENOTYPICFEATURE$, or contact lenses retards the progression of @DISEASE$.	false
+b1939e92cafa6683804b6e80ae5d28fa0820b8a0	Moderately severe @DISEASE$ (29.1%), high palate (33.1%), dental crowding (29.7%), and early-onset @PHENOTYPICFEATURE$ (15.6%) were prevalent features.	false
+6fec2cd64c63f9d29b0e1216093fe393de8dfbbe	She had strabismus, @DISEASE$, submucous @PHENOTYPICFEATURE$, bilateral hearing impairment, and scoliosis.	false
+2d8fed9f8f25054c0b5461e905e2883f5d05c6dc	microdeletion in a patient with severe mental retardation, @PHENOTYPICFEATURE$, and high @DISEASE$.	false
+ea81808d57331928614c4343701b4c4a418a6d42	We describe a 34-year-old man with hypomyelination, @PHENOTYPICFEATURE$, ataxia, and @DISEASE$ without hypodontia.	false
+6fb416cf5c8497e02390ff481b04ccd487d05283	During treatment of the @PHENOTYPICFEATURE$ the @DISEASE$ improved spontaneously.	false
+817dbc2ef90113e2127fcb1cc3fd6af6b8e70b1e	High @DISEASE$, @PHENOTYPICFEATURE$, and cortical neuronal migration abnormalities are common in disorders of O-mannosylation and also observed in the authors' patient.	false
+d98f0e06f1dfd0cd16326c5eb86c07a3bdb79feb	Presenting as a syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and blindness inherited as a dominant trait.	false
+f23116e2f386374ac1b3abd5c740d6187fcc0d2e	The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had @PHENOTYPICFEATURE$, @DISEASE$, and facial tics.	false
+8a8dbde11709df3e8aa4fead7ccddc0c83fe02d9	@DISEASE$--a family with autosomal dominant @PHENOTYPICFEATURE$, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?	false
+36887f3238857aa7b3f57466843a7c5010c2c0aa	@DISEASE$ (DM2) is an autosomal dominant @PHENOTYPICFEATURE$ caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3.	false
+27a546bd28369d11baaf80bd3b144ae9ecd221f8	@DISEASE$ (DM2) is a common adult onset @PHENOTYPICFEATURE$ caused by a dominantly transmitted (CCTG)(                   n                 ) expansion in intron 1 of the CNBP gene.	false
+f9c40a5dc8ecccfef8a181b25d31c49ad509097f	@DISEASE$ (ND) is an X-linked recessive disorder causing ocular atrophy, mental retardation, @PHENOTYPICFEATURE$, and dysmorphic features.	false
+ef1df601e11924596f52101ec9c98a7b7fbe0ef0	@DISEASE$ (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and @PHENOTYPICFEATURE$.	false
+f5b74786dc2e10749ee4207b29040cd008ac33c7	Early information on cochlear implants appears to be necessary before total @PHENOTYPICFEATURE$ occurs in patients suffering from @DISEASE$.	false
+efa9ebf583d3c17ae2493af689bf822f4638dc32	@DISEASE$ (ND) is a severe form of congenital blindness accompanied by mental retardation and/or @PHENOTYPICFEATURE$ in at least one third of the patients.	false
+770011c534fb3333c264080f0c3c2ae98c9dbe5d	@DISEASE$ is a rare X-inked recessive condition characterized by congenital blindness and occasionally @PHENOTYPICFEATURE$ and mental retardation in males.	false
+65d548952b21d7ee82665220251ed89edbc01323	@DISEASE$ is an X-linked recessive disorder characterized by congenital blindness and in some cases mental retardation and @PHENOTYPICFEATURE$.(1)	false
+42556d5bc8759f9152cf0f922734a22965b87cd7	Mutations in Norrie Disease Pseudoglioma (NDP) gene cause serious sight loss, @PHENOTYPICFEATURE$ and mental retardation in @DISEASE$ patients via the impairment of angiogenesis.	false
+ea8a76b692e4a992a95e689a16ed81152e1f0982	Mutations in @DISEASE$ Pseudoglioma (NDP) gene cause serious sight loss, @PHENOTYPICFEATURE$ and mental retardation in Norrie disease patients via the impairment of angiogenesis.	false
+29bdab8169700af83e74b5ccc3cc6c2e4889c9fc	@DISEASE$ is an X-linked recessive syndrome of blindness, @PHENOTYPICFEATURE$, and mental retardation.	false
+52eb978b2df6c2d83799b0b7be9daa3e851a2a0d	Only two of the 13 Norrie-FEVR index cases had the full features of @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+b4611b9c7445d18928011cc7e335c504c624b9af	@DISEASE$ (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and @PHENOTYPICFEATURE$.	false
+ad02c964c4deaa79496afb8e7d7023bda40f9629	@DISEASE$ are congenital @PHENOTYPICFEATURE$ that are benign.	false
+8009724c6755d27d5310193eff7ecbced5ba7091	@DISEASE$ are rare congenital intracranial @PHENOTYPICFEATURE$.	false
+0118a4c722db1a6200cb19da8034ccbe062694a2	@DISEASE$, hypothyroidism, @PHENOTYPICFEATURE$, and hypodontia.	false
+03d0b8410febc142ec9b703a96d61245bb0d16a9	@DISEASE$ are @PHENOTYPICFEATURE$ encountered mainly in young patients.	false
+fac65b83c62909f4ff7f6c78d2a7f27a8b773c94	Angular @DISEASE$ are common peri-orbital @PHENOTYPICFEATURE$ in children.	false
+e19598861430dee3f02170c612d2dbc1a1d75983	@DISEASE$ represent a rare group of @PHENOTYPICFEATURE$ manifesting predominantly in adulthood.	false
+6d345f8e3a1e5cbcb2cb820cfd0f21b11b32ee1e	CA 19-9 can be a useful @PHENOTYPICFEATURE$ marker in @DISEASE$.	false
+6957297088c0feb3dd5f0dd542fb2179b15d4529	@DISEASE$ are rare, benign, congenital @PHENOTYPICFEATURE$.	false
+da37de94d8c33246eb898aa6ec4f084ac545b033	@DISEASE$ are a very rare entity of intracranial @PHENOTYPICFEATURE$.	false
+4b81af25abc8004f3e28983a5024478d86541dd0	@DISEASE$ are benign @PHENOTYPICFEATURE$ found throughout the body.	false
+a2ea29f3af88b4b21d4224bd5955e1567322c1a2	We describe a woman with right @DISEASE$, a high palate, partial left @PHENOTYPICFEATURE$, and mild atrophy of the left arm.	false
+d03809be71f87bb6ae466e9164671e912beb9971	We report a case of @DISEASE$ with a combination of ipsilateral Fuchs' heterochromic cyclitis and retinal @PHENOTYPICFEATURE$.	false
+90ac395ff3981ebbce3f03d83ddb98cbdc66eb3d	[A case of vertebral and costal rheostosis, extradural lipoma, @DISEASE$, and non-manifest @PHENOTYPICFEATURE$].	false
+947347a03e73323b8442049019732195c3852b6f	Fuchs' heterochromic cyclitis and retinal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b711257bee68efd6f54b2f962775d258eec72672	We report the clinical and neuroradiological findings in a 6-year-old boy, presenting with focal hemifacial and arm @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ea853ace30948450c603048f6fa26430c443ada8	Spinocerebellar @PHENOTYPICFEATURE$ 13 (SCA13) is a rare @DISEASE$.	false
+ac31de9031420114553bfa16ccb8ec784b2c7c26	Markers have been described for @DISEASE$ and for certain subtypes of Friedrich's @PHENOTYPICFEATURE$.	false
+b1afe3c8bd7370c56c9cb7f91da4ed3d6bc3f73c	The effect of piracetam on @PHENOTYPICFEATURE$: clinical observations in a group of @DISEASE$ patients.	false
+dca29228d34938878e98fc7d7332013fece5ae34	@DISEASE$ (ADCA) type II is a neurodegenerative disorder presenting with @PHENOTYPICFEATURE$ and retinal degeneration.	false
+c2be3bfbb9afb577e11719db12d23f3fbf9c434d	Autosomal-dominant cerebellar ataxia (@DISEASE$) type II is a neurodegenerative disorder presenting with @PHENOTYPICFEATURE$ and retinal degeneration.	false
+7a16dd4cf3bb522502a32e813124d6459e53c9f0	This excludes the diagnosis of @DISEASE$ with macular degeneration (ADCA type II) with mutation of the spinocerebellar @PHENOTYPICFEATURE$ 7 gene.	false
+34bcc05c9151c3199db0a7b5e54e47916accd99b	This excludes the diagnosis of autosomal dominant cerebellar ataxia with macular degeneration (@DISEASE$ type II) with mutation of the spinocerebellar @PHENOTYPICFEATURE$ 7 gene.	false
+4de9b78b5f4effb774ce38a9fa9ce5b3f62689e0	@DISEASE$ showing pure @PHENOTYPICFEATURE$.	false
+93916e6895ff1899bb060ac71579b873dfc519c0	The @PHENOTYPICFEATURE$ group included patients that carried a diagnosis of spinocerebellar ataxia (any subtype), @DISEASE$, or cerebellar ataxia with unknown etiology.	false
+8e8e0e1ab2e5684e7650650590fca41c3d31f2e6	The cerebellar ataxia group included patients that carried a diagnosis of spinocerebellar ataxia (any subtype), @DISEASE$, or @PHENOTYPICFEATURE$ with unknown etiology.	false
+f04d0249e9d148a06d3f223bd7372a5d7c7724e2	The cerebellar ataxia group included patients that carried a diagnosis of spinocerebellar @PHENOTYPICFEATURE$ (any subtype), @DISEASE$, or cerebellar ataxia with unknown etiology.	false
+89c4517be076a62195737a64f118c9c90ae799cb	Spinocerebellar @PHENOTYPICFEATURE$ 13 is a slowly progressive and relatively pure @DISEASE$ with childhood onset and mental deficiency.	false
+d39186eeefb5d66ab798ec8a57de983d4fb38833	Spinocerebellar ataxia 13 is a slowly progressive and relatively pure @DISEASE$ with childhood onset and @PHENOTYPICFEATURE$.	false
+0fd3e0740e657758b4364dee40a932228be4dc0d	Eleven patients with @DISEASE$ and 8 patients with idiopathic @PHENOTYPICFEATURE$.	false
+72aba87a10e1189dd5a43f8d9a82b14634462138	@DISEASE$ with slow eye movements-a common hereditary @PHENOTYPICFEATURE$ in Western India.	false
+99c140a996570c27dd2d430f8934a9df7d4ccba7	@DISEASE$ distal type II associated with facial abnormality, renal abnormality, @PHENOTYPICFEATURE$ and Hirschprung's disease.	false
+db078360a4b91ea5fab8815f087a7084134f85fa	The patient had a history of @DISEASE$ and presented with recurrent, episodic abdominal pain, @PHENOTYPICFEATURE$.	false
+0acd80140aad6c1b8aa31db937b188c2cecebdc1	Patients with amnestic mild @PHENOTYPICFEATURE$ (@DISEASE$) syndrome were studied, since aMCI was proposed to fill the gap between normal aging and dementia.	false
+5d7c6d87c07e2cf1e905ec2ecfaa5b9e94c2cd44	The current outlook is that the 'Robinow-Sorauf' families are examples of @PHENOTYPICFEATURE$ of the TWIST mutant phenotype and that the '@DISEASE$ lies within the spectrum of the Saethre-Chotzen syndrome.	false
+368f72ae883d22163476e3bdbc119607874c2f46	@DISEASE$ patients have jaundice, hypoproteinemia, @PHENOTYPICFEATURE$, galactosemia, growth retardation, fatty liver and multiple aminoacidemia including citrulline, methionine, threonine and tyrosine.	false
+5780ff419aaab790aadfeff6b3be412c06cda2e5	The second one developed a primary APS with a @DISEASE$, while the third case is a neurolupus-associated APS with subacute @PHENOTYPICFEATURE$, chorea, stroke, and epilepsy.	false
+34af2936d3c42f9315e49413318cf52c39eba4ba	Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, @PHENOTYPICFEATURE$, seizures, visual disturbances, @DISEASE$, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome.	false
+4d0fb01a0eb10d14411422913b2b124821bd0c19	Among this class of disorders are Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome, myotonic dystrophy type 1 and myotonic dystrophy type 2, Friedreich @PHENOTYPICFEATURE$ and C9 related @DISEASE$, Facioscapulohumeral Muscular Dystrophy and potentially more.	false
+b47cdefe3659f923f46ba25c62c825c2297984e4	Other anomalies were vertically oval corneas, high mixed astigmatism, amblyopia, horizontal nystagmus, @PHENOTYPICFEATURE$, maxillary hypoplasia, micrognathia, low set large ears, and @DISEASE$.	false
+4624af97a82ea57d4b76e6bbf683a3b3f0c73a0e	Routine postmortem examinations and the pathobiological features revealed by systematically designed studies have shown several pathologic phenotypes, which are often characteristic enough to differentiate among the various SAM strains: senile amyloidosis in SAMP1, -P2, -P7, -P9, -P10 and -P11, @DISEASE$ in SAMP2 and -P6, contracted kidney in SAMP1, -P2, -P10, -P11, immunoblastic lymphoma in SAMR1 and -R4, histiocytic sarcoma in SAMR1 and -R4, ovarian cysts in SAMR1, impaired immune response in SAMP1, -P2 and -P8, hyperinflation of the lungs in SAMP1, @PHENOTYPICFEATURE$ in SAMP1, degenerative temporomandibular joint disease in SAMP3, senile osteoporosis in SAMP6, deficits in learning and memory in SAMP8 and -P10, emotional disorders in SAMP8 and -P10, cataracts in SAMP9, and brain atrophy in SAMP10.	false
+6f6a9af82b17dc93c342c5bf80255665a69acd48	Secondary @DISEASE$ has been described associated with @PHENOTYPICFEATURE$, in addition to a percentage of cases of unknown etiology.	false
+a3ed5e05e06269db4bf44f45374fe97e1affea41	Severe cases suffers from @PHENOTYPICFEATURE$, meningitis, articular contracture and @DISEASE$.	false
+c1a6f920b53e8b5626da38fb17ac32405ae6a2d9	Congestive @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+8610a12e6bc10738b0cd73f4a19bbe97e58107d4	Twenty-four patients with @DISEASE$ without @PHENOTYPICFEATURE$ symptoms or arrthymia (15 men and nine women; mean age 44.3 +/- 16.7 years) and 25 healthy subjects (19 men and six women; mean age 43.1 +/- 9.2 years) as controls were included in the study.	false
+bf6d74c1c8942e17f899a298facf8c4387258901	Renal @DISEASE$ secondary to morbid @PHENOTYPICFEATURE$?	false
+91d3fec97d7f765efeab1f1d0edfc770a01b69e6	Destructive arthritis, @DISEASE$ and treatment complications including infections, osteoporosis, @PHENOTYPICFEATURE$ and the macrophage activation syndrome account for the significant morbidity and mortality associated with the disease.	false
+f5f6a64a77c92e5c9353ccb0e768e38941981624	Other conditions discussed in this review are silicosis, drug @DISEASE$, @PHENOTYPICFEATURE$, Castleman's disease, viral infections, and chronic obstructive pulmonary disease.	false
+6d5d708638868ab7d0dc36a28d3030fdd3d51326	The aim of this study was to investigate the left ventricular systolic and diastolic functions by both tissue Doppler imaging (TDI) and pulsed wave Doppler echocardiography (PWD) in patients with @DISEASE$ without @PHENOTYPICFEATURE$ symptoms or arrthymia.	false
+883a30011badafe088ffaeba5570c8bf303b8d08	@DISEASE$ is a rare systemic affection characterised by the association of @PHENOTYPICFEATURE$ manifestations and extra ocular lesions such as meningismus, tegumentary or auditory findings observed in pigmented population.	false
+0e4869d36e7c158de5123e8febccc5a788f0b219	Differentiation between the diagnoses of @PHENOTYPICFEATURE$ and @DISEASE$ (ADHD), Predominantly Inattentive Type, is frequently confounded by similarities in symptom presentation.	false
+8c9e97892ffd1afb999608e14c81079a95276a50	Prediction of group membership in developmental @PHENOTYPICFEATURE$, @DISEASE$, and normal controls using brain morphometric analysis of magnetic resonance imaging.	false
+f30edb92c90ddeb4cd0ccb19ea70f4fd6c307d89	Differences in cerebellar structure have been identified in autism spectrum disorder (ASD), @DISEASE$ (ADHD), and developmental @PHENOTYPICFEATURE$.	false
+0a339958cc097c9f99761f54be7e7a4556e470ae	This study aimed to investigate the neurocognitive functioning of children with developmental @PHENOTYPICFEATURE$ (DD) and @DISEASE$ (ADHD).	false
+451a77626478e65c32bb7a8cb48c4e0fafea1d29	The patient displayed a severe phenotype with early onset cerebellar ataxia complicated by intellectual disability, epilepsy, @DISEASE$, strabismus, oral @PHENOTYPICFEATURE$ and joint hyperlaxity.	false
+4018f59cfd8e970b2dbcdaa6fc1897f9199f6110	Developmental @PHENOTYPICFEATURE$ (DD) and @DISEASE$ (ADHD) are among the most common neurodevelopmental disorders, whose etiology involves multiple risk factors.	false
+f7c0e1bfbfe1e37eca8cbab8a40387635e8c2ca6	@PHENOTYPICFEATURE$ and @DISEASE$ (ADHD) are highly comorbid neurodevelopmental disorders (estimates of 25-40% bidirectional comorbidity).	false
+dea0380c5b0628ea9e01f0b94e52865a0c72c3bc	@DISEASE$ (ADHD) and @PHENOTYPICFEATURE$ co-occur more often than expected by chance.	false
+83c01bf2321af6f302fd3613a9c9f4a6632965d5	A related purpose was to determine if eyeblink conditioning could discriminate between children with prenatal alcohol exposure and children diagnosed with @DISEASE$ or developmental @PHENOTYPICFEATURE$.	false
+f52f616117ea325dec1c527a26785a7a053a26cb	Neurocognitive functioning in children with developmental @PHENOTYPICFEATURE$ and @DISEASE$: Multiple deficits and diagnostic accuracy.	false
+e9d9c5a4aa5c43054ebbecbaafa38291f8c86288	The antisynthetase syndrome is a systemic inflammatory disease associated with anti-tRNA synthetase antibodies and consisting of the clinical features of inflammatory myopathy arthritis, interstitial lung disease (ILD), @PHENOTYPICFEATURE$, @DISEASE$, and rash.	false
+0f9467d747978676dc89b6c452f402edb67e89d1	However, additional indications include treating intractable hiccups; inducing a sympathectomy and vasodilation to increase blood flow after a vascular accident, digit transfer/replantation, or limb salvage; alleviating vasospasm of @DISEASE$; and treating peripheral embolism and chronic pain such as complex regional pain syndrome, phantom @PHENOTYPICFEATURE$, trigeminal neuralgia, and cancer-induced pain.	false
+d108f3f3040bcaf131496eeca046f20b361b4432	Arthritis, @PHENOTYPICFEATURE$, serositis, sicca symptoms, @DISEASE$, lung disease and neuropsychiatric symptoms are more common in patients with elderly-onset lupus, while malar rash, discoid lupus and glomerulonephritis are less common in elderly-onset patients compared with younger lupus patients.	false
+f6f8474c7b485c66d00ded2f0f30e7325486c58d	The most common symptoms at the early (polyarthritis, @PHENOTYPICFEATURE$, dermatitis) and advanced (polyarthritis, @DISEASE$, carditis, myalgia) stages differed from those specified by American College of Rheumatology (1997).	false
+9f6a5a6bb858eaa6344a6682834e569477e0df50	Type II tyrosinemia (@DISEASE$) is a familial aminoacid disorder, clinically characterized by ocular changes (keratitis), palmo-plantar hyperkeratosis, no constant mental changes with @PHENOTYPICFEATURE$, abnormal urinary excretion and high serum tyrosine level in consequence of the absence of tyrosine-aminotransferase. Almost 20 families have been described in the literature of which 50% are of Italian origin, suggesting that this disorder is particularly frequent in our country.	false
+f2398da5ef1d2f6acd70291f43ec70e2a7474aa3	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of @DISEASE$ such as @PHENOTYPICFEATURE$.	false
+74bf9905e09a1477ea2f280536546b9ed2a7f861	@DISEASE$ should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as @PHENOTYPICFEATURE$.	false
+0cf7562aec05a42a8cdbc36e00c0a1edbf79c17c	Other less common phenotypes included @DISEASE$ (36.2%), cardiac malformation (29.8%), cleft lip and palate (25.5%), cerebral abnormalities (25.5%), @PHENOTYPICFEATURE$ (21.3%), and increased nuchal translucency/nuchal fold thickness (NT/NF) (19%).	false
+879486a9048ddd9b75d5aa86f9aa409e3f6f706c	@DISEASE$ (XDP) is an X-linked recessive adult onset @PHENOTYPICFEATURE$ characterized by both dystonia and parkinsonism.	false
+2a0d1689801457487c4f8e461229f509ef3f5b67	The most likely genetic cause of @DISEASE$, a neurodegenerative @PHENOTYPICFEATURE$ endemic to the Philippines, is a 2672-bp-long retrotransposon insertion in intron 32 of the TAF1 gene.	false
+13a9b47231f1ca26b5377d494c930d561540ca63	@DISEASE$ (XDP) is an inherited neurodegenerative adult-onset @PHENOTYPICFEATURE$ associated with striatal atrophy.	false
+38715c1dc4c337c9e0dc2e0678a49555fd127cf8	@DISEASE$ is a neurodegenerative @PHENOTYPICFEATURE$ characterized by adult-onset dystonia combined with parkinsonism over the disease course.	false
+aff9b0c39cc60d012849802014c0da27abcda7b1	@DISEASE$ (XDP) is a progressively debilitating @PHENOTYPICFEATURE$ that begins with focal dystonia and eventually generalizes.	false
+fa67c9912113db61bd62d3929a43f78f9a3824d2	@DISEASE$ (XDP) is a @PHENOTYPICFEATURE$ endemic to the Philippines.	false
+eef9ad5e5d6b7f22fe4e6d8cf0954d7639ee36b1	Autosomal dominant syndrome of @PHENOTYPICFEATURE$, hypotelorism, and cleft palate resembling @DISEASE$.	false
+be83b254de0b5d514483b6afddce06e295d58854	The presentations of a dysplastic disc and colobomatous @PHENOTYPICFEATURE$ are rarely reported in patients with @DISEASE$, but these ophthalmic abnormalities may affect vision.	false
+b0afa5d1c83e1338ddbb9e274e3e793a63ee583f	@DISEASE$ (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent @PHENOTYPICFEATURE$.	false
+4ca5d635e31d95ca059d068c0677ce49fdee42d9	@DISEASE$ presenting with congenital @PHENOTYPICFEATURE$.	false
+b68800d89813753a3136b6d8404b2de3d09dfef3	We also identified four other patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d34d418b80fb211c8553a4bc3c4e870f2aaf08c1	Children presenting with @PHENOTYPICFEATURE$/anophthalmia should be examined closely for other signs of @DISEASE$, especially at an age where the facial gestalt might be less readily appreciable.	false
+2d5140fc2a1997fee9bb51125f417654da7a2505	@DISEASE$: expanding the phenotype to include @PHENOTYPICFEATURE$ and anophthalmia.	false
+5ded90779544ca91d136f3ea404c4dbdcb3102d0	We report the first case of a @DISEASE$ patient from Saudi Arabia and stress on the importance of ophthalmological examination in all patients with KS for the early detection of ocular anomalies in order to prevent @PHENOTYPICFEATURE$.	false
+2f39477ec50032f3f000fe10c4244067ec2d5b17	An unusual presentation of @DISEASE$ with orbital cysts, @PHENOTYPICFEATURE$, and cholestasis with bile duct paucity.	false
+99e058ba41acfc23b0dabef8ff1c1048c923fee6	We describe a case of @DISEASE$ presenting with atypical features, consisting of bilateral @PHENOTYPICFEATURE$, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome.	false
+7a082f86977b8b9d125d6b2ab4ff704f95cde723	We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme @PHENOTYPICFEATURE$; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of @DISEASE$, including interrupted eyebrows and lower lid ectropion.	false
+23523dac1ae3496954039dd4bef5476ec8cf08f5	They present with mild to severe developmental delay associated with a range of features including short (4/20) or tall (2/20) stature, obesity (5/20), microcephaly (4/19) or macrocephaly (2/19), behavioral problems (17/20), seizures (5/20), cleft lip or palate or @DISEASE$ (3/20), and minor @PHENOTYPICFEATURE$.	false
+7a805d639ee310f6f62a60b5ab1df7877389f3f3	The patient had the following clinical features: intrauterine growth retardation at birth, hypotonia, cryptorchidism, facial asymmetry, enophthalmus, mild prognathism, @DISEASE$, hypoplastic upper limb phalanges, DD including @PHENOTYPICFEATURE$, and ID.	false
+82b63a8498677a16fa19e20ec8fde0f14ef901f2	We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early @PHENOTYPICFEATURE$ and midface hypoplasia with submucous cleft palate and @DISEASE$.	false
+c864450b5de412d6ba62a3d23981efa57519164c	This group had other findings such as @PHENOTYPICFEATURE$, scoliosis, and @DISEASE$.	false
+1e98156219b0a05a1239cdaf6759e0c984044355	The gene parkin, loss-of-function mutations in which account for about half of cases of @DISEASE$, has been identified as a candidate @PHENOTYPICFEATURE$ suppressor gene by several groups.	false
+7d51454af5d2e989f8fd75f0d376c5e5a089a4bc	Parkinson's disease (PD) and Parkinson plus syndromes (@DISEASE$) are neurodegenerative @PHENOTYPICFEATURE$ caused by loss of dopamine in the basal ganglia.	false
+3708561af88688d70c5dbefc14410cec4f490bdb	In both the full analysis set (FAS) and the per-protocol set (@DISEASE$), @PHENOTYPICFEATURE$ was significantly ameliorated in the ALC group with 50.5 and 51.6% patients meeting the primary endpoint at week 8, compared with 24.1 and 23.1% of patients in the placebo group (P<0.001 in both sets).	false
+eb5b16ac7dfcdad13f8ddad6274c7abb41d950c6	Peripheral pulmonary artery stenosis (@DISEASE$) is a congenital abnormality resulting in pulmonary blood flow disparity and right ventricular @PHENOTYPICFEATURE$.	false
+2d77d4b5cce22841ae4f1d34f04d8f9c9b70fb3c	We examined a newborn infant with multiple hamartomas, including an @DISEASE$ and a giant pigmented congenital nevocellular nevus, associated with other structural developmental abnormalities such as nevus flammeus, vascular malformation, cutis aplasia congenita of the scalp, cartilage @PHENOTYPICFEATURE$, and a lipodermoid of the conjunctiva.	false
+74de070e0af717fcb8501223284dede8ea14f209	Association of a PENS @PHENOTYPICFEATURE$ and neurological disorders allows classification of PENS as a new keratinocytic @DISEASE$.	false
+c10bd866dfa74a09572eda79a1c82aac406f6d5a	@DISEASE$: association with central precocious puberty and @PHENOTYPICFEATURE$ nevus.	false
+6eba05369be0fc7b878541e02adfbdfca80af9c3	@DISEASE$ @PHENOTYPICFEATURE$ is almost unknown in the chronic phase of CML.	false
+ad7b0cd2c75c65d8cbd7b2fef36e9146c9fa0b6c	The patient developed bone marrow involvement and @DISEASE$ @PHENOTYPICFEATURE$ 6 months later.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+eb4dd5e3f23e8a8c6f80276ffeb2ae9cb76bfade	The frequency of @DISEASE$ @PHENOTYPICFEATURE$ in A.M.I. is under-estimated.	false
+d90b0564c4a3131edf449110ba4b2f3b776346ec	@PHENOTYPICFEATURE$ and deafness associated with @DISEASE$ carcinoma.	false
+7a32f35a5695ff5bb42d2976f4f36d529c071454	route was also satisfactory for the treatment of initial and recurrent episodes of @DISEASE$ @PHENOTYPICFEATURE$ (ML).	false
+374a29f85d15f1ae2a77b19318d8850b0fb2c629	Five of six patients with optic nervic involvement had coexistant @DISEASE$ @PHENOTYPICFEATURE$.	false
+cc21143b34913f20a48a9694206451732b388b0b	Acute encephalopathy after initiation of cranial irradiation for @DISEASE$ @PHENOTYPICFEATURE$.	false
+49e2b320e57709c92ee30c232beb933313d56d22	@DISEASE$ @PHENOTYPICFEATURE$, which had been a frequent pathological complication at the beginning of the examination period, later had become rarer.	false
+cc21143b34913f20a48a9694206451732b388b0b	Acute encephalopathy after initiation of cranial irradiation for @DISEASE$ @PHENOTYPICFEATURE$.	false
+bdc31158d8a69c471e7498488122c7ec0dce13cb	@DISEASE$ is the triad of seizures, hyperphosphatasia, and @PHENOTYPICFEATURE$.	false
+c62584bf6dcab48dd6a9f6c836082ed5c566a00c	The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-@PHENOTYPICFEATURE$, polydactyly-triphalangeal thumb syndrome (@DISEASE$) and micromelia-trigonal brachycephaly syndrome.	false
+437bcb756dc1954421a3e55d3f9ecbfd607534e1	Analysis of PKA activity in @DISEASE$ tumours demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-CNC @PHENOTYPICFEATURE$.	false
+40fd9177f656bf63c3b79382ea28bd89b6e46687	Analysis of PKA activity in @DISEASE$ @PHENOTYPICFEATURE$ demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-CNC tumours.	false
+d003a083717a21c4434a0b441d31ecd5ae31f28b	Analysis of PKA activity in CNC tumours demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-@DISEASE$ @PHENOTYPICFEATURE$.	false
+9eefef8f23ed5a97ef0daea285e71f53f42a928f	Analysis of PKA activity in CNC @PHENOTYPICFEATURE$ demonstrated a decreased basal activity, but an increase in cAMP-stimulated activity compared with non-@DISEASE$ tumours.	false
+5d4abe3c3f4aa79d89860c8b3e126eb69829f15f	The molecular basis for the development of cardiac myxomas and @DISEASE$ @PHENOTYPICFEATURE$ is unclear.	false
+cb5fcb1c6a45fa0bc8b01325385e9e2964df834d	Recurrence of stromal @PHENOTYPICFEATURE$ following complete resection is common in @DISEASE$ and presents considerable management challenges.	false
+128637de22a181d04f53e6b02d8ca234096e5ab8	Chromosome 2 (2p16) abnormalities in @DISEASE$ @PHENOTYPICFEATURE$.	false
+c08a56ae3f904f4153a62814c3ef429311935b97	MEN1, MEN4, and @DISEASE$ are hereditary @PHENOTYPICFEATURE$ syndromes that can present with pituitary adenomas.	false
+991da894e88ba93b7cb8b2824eaacfbf9a6d4627	Early diagnosis of CNC would alert ongoing surveillance of @PHENOTYPICFEATURE$ and complications; the prognosis of @DISEASE$ may thus be improved by early treatment.	false
+ac7b359f60c900d3f403dc078e5e822bfeecc3b4	Early diagnosis of @DISEASE$ would alert ongoing surveillance of @PHENOTYPICFEATURE$ and complications; the prognosis of CNC may thus be improved by early treatment.	false
+f7b35e4905881bb2a3633145e0ae6a57e735ee88	In @DISEASE$ @PHENOTYPICFEATURE$, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased.	false
+1feda1cdc8bc813d2e734ea40a4908e3e0ebc68f	The proband was diagnosed with hepatocellular carcinoma, a @PHENOTYPICFEATURE$ that appears to be associated with @DISEASE$.	false
+b7a3dc955110b646b79d69f436d7ae0fc681156b	In CNC @PHENOTYPICFEATURE$, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased, and in @DISEASE$ tumors, there is LOH of the normal allele, suggesting that normal PRKAR1A may be a tumor suppressor in these tissues.	false
+773350e95c94d51ff98ab9ff620b9d71e699efa4	In CNC tumors, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased, and in @DISEASE$ @PHENOTYPICFEATURE$, there is LOH of the normal allele, suggesting that normal PRKAR1A may be a tumor suppressor in these tissues.	false
+39ec1aaf196f3e95246723ad08ee1a15a853c766	In @DISEASE$ @PHENOTYPICFEATURE$, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased, and in CNC tumors, there is LOH of the normal allele, suggesting that normal PRKAR1A may be a tumor suppressor in these tissues.	false
+f80131205367a20ec440fb78d22aba9114f7b413	In @DISEASE$ tumors, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased, and in CNC @PHENOTYPICFEATURE$, there is LOH of the normal allele, suggesting that normal PRKAR1A may be a tumor suppressor in these tissues.	false
+65c125145f24b33ffc27ef3857b3a3bcaa0ba966	In CNC tumors, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased, and in @DISEASE$ tumors, there is LOH of the normal allele, suggesting that normal PRKAR1A may be a @PHENOTYPICFEATURE$ suppressor in these tissues.	false
+fc9765e06a531995b6942e3feee77f0364ac7748	In @DISEASE$ tumors, PKA activity showed increased stimulation by cAMP, whereas PKA activity ratio was decreased, and in CNC tumors, there is LOH of the normal allele, suggesting that normal PRKAR1A may be a @PHENOTYPICFEATURE$ suppressor in these tissues.	false
+d9c5b23c95a7082246f3238a1f294643e688a1fe	CGH analysis showed a low level 2p amplification recurrently in four of eight @DISEASE$ tumours; one @PHENOTYPICFEATURE$ showed specific amplification of the 2p16-p23 region only.	false
+0e18406b1d5a976d799835365e9259c9d51a71db	CGH analysis showed a low level 2p amplification recurrently in four of eight @DISEASE$ @PHENOTYPICFEATURE$; one tumour showed specific amplification of the 2p16-p23 region only.	false
+57924a057080b609ec90f6c56304b40d953a1b39	Although these changes can be seen in chronic radiculomyelitis (@DISEASE$) from other causes, such as leukaemic infiltration/lymphoma, other chronic @PHENOTYPICFEATURE$ and iatrogenic causes, including repeated intrathecal injections, conventional myelography appeared to be useful for diagnosis and follow up in tuberculous radiculomyelitis (arachnoiditis).	false
+caf482f992f3d38556e126dd92d93ab5e9c2176e	Although these changes can be seen in chronic radiculomyelitis (arachnoiditis) from other causes, such as leukaemic infiltration/lymphoma, other chronic @PHENOTYPICFEATURE$ and iatrogenic causes, including repeated intrathecal injections, conventional myelography appeared to be useful for diagnosis and follow up in tuberculous radiculomyelitis (@DISEASE$).	false
+c97b2c1942177afe3405d95f831d5214e7e04a19	cPAN presents with distinct skin findings, such as a maculopapular rash, @PHENOTYPICFEATURE$, @DISEASE$, panniculitis, ischemic finger lesions, or erythematous patchy rash.	false
+dbd3aa8ef37aaf18af2153392b8d60fcb485cb8e	@DISEASE$ is a rare systemic infection caused by Tropheryma whippelii that usually manifests with joint pain, @PHENOTYPICFEATURE$, diarrhoea and abdominal pain.	false
+8f038f991d94bd619ce0a377d88ec39c8855d66a	The case of a middle-aged male is described, who after a three-year period of migratory arthralgias, showed @PHENOTYPICFEATURE$, diarrheas and abdominal pain, being diagnosed of Giardiasis, and after the persistent symptoms and a number of studies, was diagnosed with @DISEASE$.	false
+8fd467603a8d7402b7063cae2757a85958d81d70	Special emphasis is placed on vitroretinal disorders of general importance, such as diabetic retinopathy, endogenous (fungal) endophthalmitis, @DISEASE$, Crohn disease, sarcoidosis, shaken-baby syndrome, Terson syndrome, metastatic tumours of the choroid, cellular infiltration of the vitreous due to @PHENOTYPICFEATURE$ or non-Hodgkin lymphoma, and amyloidosis.	false
+2d0dc688f25001188c01de6beb77ce9eec44a09c	We report a case of @DISEASE$ in a 55-year-old woman who presented with arthralgia, @PHENOTYPICFEATURE$, and lymphadenopathy.	false
+e10215cdb03b032715ecff11b02bb01d133eb303	Long-term survival in @PHENOTYPICFEATURE$ communis type A1 associated with @DISEASE$--a case report.	false
+beb35f00d347a89336b4329ae4b7d959f19b5dcd	One woman (@DISEASE$ type IV) had @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+5e21f80cef7d9654ab83b6a0637a8eeb04cb55ab	@PHENOTYPICFEATURE$ and its underlying mechanisms in the hypermobility type of @DISEASE$.	false
+17690f3409400feea6c8a61dcb227f135769794d	We determined whether the level of rSO2 obtained during cardiopulmonary resuscitation is associated with return of spontaneous circulation (ROSC) and survival in Emergency Department (@DISEASE$) patients presenting with @PHENOTYPICFEATURE$.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+116e1b24c8044f0b0f1716e9e8e1edc312a53126	Contrary to earlier published observations, we have not found an increased incidence of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1a9aa38222bb87968a3df07cdc4690800b1b05ef	[@PHENOTYPICFEATURE$ in @DISEASE$.	false
+96d39cef727fe337a8fbe63f378d8ead1e1e2a93	In @DISEASE$ patients with @PHENOTYPICFEATURE$ higher cerebral oxygen saturations are associated with higher rates of ROSC.	false
+807867f7190072550b529444387bde7186954e02	Two cases of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+9743adecdb405f5ca112ef5b306abcd1c120fbd9	Deletion @DISEASE$ is associated with characteristic facial features, growth failure, and @PHENOTYPICFEATURE$.	false
+144725f7caf73741606733c158ec9fbd8c1914e8	The two brothers present microcephaly, light @PHENOTYPICFEATURE$, learning and language difficulties but not the typical phenotype manifestations described in @DISEASE$.	false
+a6b9f3f4263dae1e5165153ce73f5518b9b202b8	The former patient showed characteristic clinical manifestations of the @DISEASE$, including growth failure, @PHENOTYPICFEATURE$, microcephaly with a flat occiput, triangular face, synophrys, blepharoptosis, hypertelorism, broad and flat nose, long philtrum, down-turned mouth, micrognathia, apparently lowset and malformed ears, fingers abnormalities, and deafness.	false
+d75c1a226a89b3c375b03f776a15a2b5aa917385	These sensorimotor and cognitive deficits are analogous to the symptoms of patients with @DISEASE$ @PHENOTYPICFEATURE$ who are haploinsufficient for WRP/MEGAP, a component of the WAVE-1 signaling network.	false
+0992ac63688bb427254a7f4c251820641fdab447	To discover genes contributing to @PHENOTYPICFEATURE$ in @DISEASE$ patients we have used in silico searches for neural genes in NCBI databases (dbEST and Uni-Gene).	false
+66bd04889a914c5a1c7f944c257a8e17862abf24	The most common malformations of trisomy @DISEASE$ are: psychomotor and @PHENOTYPICFEATURE$, short neck, hypertelorism/telecanthus and congenital heart defects.	false
+3fafc64de48bb718ef9abc0bada1d5005491868b	have been reported in only five patients so far, four of them with overlapping telomeric microdeletions 3p25.3 and variable features of @DISEASE$, and one patient with a small proximal microdeletion and a distinct phenotype with @PHENOTYPICFEATURE$ (ID) and multiple congenital anomalies.	false
+717c1b7643751612d87ce8c17ceaab5b69eb3151	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and micrognathia.	false
+76994c9d26cdb0e7fec61c0e05a17dee9e1b5ada	Distal deletion of chromosome 3p25-pter (@DISEASE$) produces a distinct clinical syndrome characterised by low birth weight, @PHENOTYPICFEATURE$, telecanthus, ptosis, and micrognathia.	false
+41e2f28f5cdad6cce1b0cca411890e11b4195c87	A 23-year-old man with @DISEASE$ developed noncardiogenic @PHENOTYPICFEATURE$ 6 hours after receiving 90 g of IVIG by a rapid-infusion protocol.	false
+1e5604d944e70f61ee26470075236fa0539844eb	In patients who show their lower teeth during smiling and facial animation, @PHENOTYPICFEATURE$ of the marginal mandibular nerve (@DISEASE$) causes a noticeable asymmetry of the lower lip due to the absence of depressor function.	false
+040389d0f132fb2d66fb239f86c654759a9298d1	Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, @PHENOTYPICFEATURE$ seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the @DISEASE$.	false
+2d0d6927c02e2497c14ddf6ea2f1a6ed0233929d	Many of their manifestations have been described in individuals with @DISEASE$; however, the anterior chamber cleavage anomalies seen in both girls, @PHENOTYPICFEATURE$ seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome.	false
+0fa42a91bc6268242f347abe7005ed0962255255	@DISEASE$ is a rare entity characterized by short stature and @PHENOTYPICFEATURE$, face and external genitalia.	false
+e0b8109f6dc1e618ed3359432447f9fbee286ba3	We report a four-year-old girl with recurrent pneumonia and @PHENOTYPICFEATURE$, who was diagnosed as having @DISEASE$.	false
+8f119eea454b106f9c86d3398d84d765d92e5cc4	We report a case of @DISEASE$ with pulmonary sequestration, persistent primitive hepatic venous plexus and stenosis of the inferior vena cava in a child presenting with @PHENOTYPICFEATURE$.	false
+82e3bb9a9a37f5bf45c023a1a08217e5f10caaf7	A young girl child with recurrent pneumonias, @PHENOTYPICFEATURE$ and dextroposed heart was diagnosed with and surgically treated for @DISEASE$.	false
+dd3f0e53614e447c64d3a398756dd6ae86608bcb	@DISEASE$-positive @PHENOTYPICFEATURE$ were also associated with p53 (P = 0.002), Bcl-2 (P = 0.04), and nuclear survivin (P = 0.03) expression.	false
+04921e196203f81085783ecf3857307e40cfc3b4	This mechanism could also be active in vivo since primary ovarian @PHENOTYPICFEATURE$ contain type II @DISEASE$.	false
+e4a806207c93549a2dad7ba4ac032d2afe50e847	Cases with an EBV-EBER-positive lymphoma had higher EBV viral loads than those with @DISEASE$-negative @PHENOTYPICFEATURE$.	false
+86ea56a2aca294ad72d5173e75dbe856fd3346d4	Two patients with @DISEASE$ type and giant solid @PHENOTYPICFEATURE$ died after operation.	false
+5f58d4b84e7bccd44290166f76095a1302be61d8	Appreciable amounts of type II @DISEASE$ were also detected in seven primary ovarian @PHENOTYPICFEATURE$.	false
+2900836130edf744fa65fad4f35694e7144f7225	In this paper, we report of the result of the first 100 @DISEASE$ patients referred for further investigation of mediastinal adenopathy or @PHENOTYPICFEATURE$ found via CT.	false
+611225e5a618bdec0b317dd405e4120560a86aad	Eagle Barrett syndrome (@DISEASE$) is characterized by the triad of abdominal muscle deficiency, @PHENOTYPICFEATURE$, and cryptorchidism.	false
+0d24b8664e3f1561188512ba540f198b9831e555	The presence of Type II @DISEASE$ in ovarian cancer could be of clinical importance since it has been demonstrated that bioflavonoids, through the interaction with Type II EBS, may exert a growth inhibitory activity both alone or in combination with chemotherapeutic agents on ovarian cancer cell lines and primary @PHENOTYPICFEATURE$.	false
+8b0c505c9948bf059fdbff245483b4d83daace1d	The presence of Type II EBS in ovarian cancer could be of clinical importance since it has been demonstrated that bioflavonoids, through the interaction with Type II @DISEASE$, may exert a growth inhibitory activity both alone or in combination with chemotherapeutic agents on ovarian cancer cell lines and primary @PHENOTYPICFEATURE$.	false
+d284580de01edc444cd28a07ee4ab216c1a4d96a	The biological and clinical significance of low levels of circulating EBV DNA in the minority of patients with @DISEASE$-negative @PHENOTYPICFEATURE$ remain to be elucidated.	false
+d5480af51265ee5ac8df5b9f8bc499ab2f54a735	Plasma EBV DNA was detected in all of the patients with @DISEASE$-positive @PHENOTYPICFEATURE$, and in 23 of 94 (24.5%) patients with tumors of EBER-negative or unknown status.	false
+ed5bd96c91d4f4586ad2093f101505a75e2fa404	Plasma EBV DNA was detected in all of the patients with @DISEASE$-positive tumors, and in 23 of 94 (24.5%) patients with @PHENOTYPICFEATURE$ of EBER-negative or unknown status.	false
+e34b585e5a792dc6dd0dbd573e58f0b6f547ecb8	Microsatellite markers linked to juvenile myoclonic epilepsy (EJM1), benign neonatal familial convulsions EBN1 and EBN2, @DISEASE$ (ADNFLE), idiopathic generalized epilepsy (EGI), progressive @PHENOTYPICFEATURE$ epilepsy of Unverricht-Lundborg (EPM1), and partial epilepsy with auditory features (EPT), were also excluded as potential loci linked to the FC trait in our families.	false
+cc1ed8395946db9c3ff29c4b64b67b99f85fa69f	Microsatellite markers linked to juvenile @PHENOTYPICFEATURE$ epilepsy (EJM1), benign neonatal familial convulsions EBN1 and EBN2, @DISEASE$ (ADNFLE), idiopathic generalized epilepsy (EGI), progressive myoclonic epilepsy of Unverricht-Lundborg (EPM1), and partial epilepsy with auditory features (EPT), were also excluded as potential loci linked to the FC trait in our families.	false
+9297d56698bc7da5363c74d178d5c722f98ed0de	Collectively, our data suggest that the neuronal ?4?2-nAChR is likely an important target for mediating the anticonvulsive effect of LTG and the blockade of ?4?2-nAChR possibly underlying the mechanism through which LTG effectively controls some types of epilepsy, such as @DISEASE$ or juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+bee0cfafa35ebaa3ed60cf6efe8b9ec824023423	The alpha4 subunit gene (CHRNA4) of the neuronal nicotinic acetylcholine receptor (nAChR), linked to an idiopathic partial epilepsy, @DISEASE$ (ADNFLE), may also play a key role in the development of the idiopathic generalized epilepsy syndrome (IGE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	false
+0ce2c9a1e9b63cc2db69a5ec7d782e2680529aff	Based on genetic studies in patients with epileptic disorders worldwide and animal models of seizure, it has been demonstrated that nAChR activity is altered in some specific types of epilepsy, including @DISEASE$ (ADNFLE) and juvenile @PHENOTYPICFEATURE$ epilepsy (JME).	false
+8700cf03776d057c153b512e96e1a4480e80cc3d	@DISEASE$ @PHENOTYPICFEATURE$- or organ-imaging agents.	false
+8700cf03776d057c153b512e96e1a4480e80cc3d	@DISEASE$ @PHENOTYPICFEATURE$- or organ-imaging agents.	false
+fa9f496e7e2d9833e8184f28c59fc587315aa4c4	Borderline ovarian @PHENOTYPICFEATURE$ are low malignant @DISEASE$ tumours.	false
+d1f5ace6aa675bf33f381e14ecb5f422163431a3	Borderline ovarian tumours are low malignant @DISEASE$ @PHENOTYPICFEATURE$.	false
+ee85e4168efa8fe2918b5bafec3ce02739b54e10	Careful evaluation of an infant with @PHENOTYPICFEATURE$ by a multidisciplinary team is required to rule out other @DISEASE$ abnormalities.	false
+dca5630e98aa47f18e32a3eca7ffc33e40b708e5	This study focused on @DISEASE$ @PHENOTYPICFEATURE$ and possible disruptions of interhemispheric (parietal) callosal connections in individuals with TS.	false
+caeeac69a0a91fc18c06e77ce012e9799457027f	Fifteen @DISEASE$ @PHENOTYPICFEATURE$-associated antigens were discovered.	false
+8f2cad5d653642ffb4600a8cb08a295c01a1d899	In addition, tumor lysis syndrome can result in several metabolic abnormalities, leading to @DISEASE$ @PHENOTYPICFEATURE$.	false
+64b4581a75c42f54a2f8734757ee8ca604f102cf	One adverse effect of ACEIs use is a rise in serum creatinine and @DISEASE$ @PHENOTYPICFEATURE$.	false
+8700cf03776d057c153b512e96e1a4480e80cc3d	@DISEASE$ @PHENOTYPICFEATURE$- or organ-imaging agents.	false
+8700cf03776d057c153b512e96e1a4480e80cc3d	@DISEASE$ @PHENOTYPICFEATURE$- or organ-imaging agents.	false
+4f453a7239e1bb4b4d7fc819ea319c84bd7b9d86	@DISEASE$ (RPE) is a benign @PHENOTYPICFEATURE$ seen mostly in children.	false
+d25970755982c23b3274978e0593d42e07ff7c98	@DISEASE$ (CHRRPE) are rare, benign @PHENOTYPICFEATURE$ that typically appear slightly elevated and are characterised by varying amounts of pigmentation, vascular tortuosity, and epiretinal membrane formation that can be related to macular distortion.	false
+7bd47319194b9ae6e6d556e819363b1fee217b09	@DISEASE$ (CHRRPE) is a rare, benign @PHENOTYPICFEATURE$, but there are no established managements for CHRRPE.	false
+e13d34716441dc7f7161e6abf913b706e5b1dce4	@DISEASE$ has been described as a rare, benign @PHENOTYPICFEATURE$ formed by an overgrowth of several constituents of the retina such as the retinal pigment epithelial cells, vascular elements, and glial components.1 Despite its varied clinical appearance it is important to recognize this tumor as it is known to simulate intraocular malignancies like retinoblastoma and choroidal melanoma.	false
+2a02e76a27dd7808f6fae7c5a1a3c268b4c3fc6c	@DISEASE$ has been described as a rare, benign tumor formed by an overgrowth of several constituents of the retina such as the retinal pigment epithelial cells, vascular elements, and glial components.1 Despite its varied clinical appearance it is important to recognize this @PHENOTYPICFEATURE$ as it is known to simulate intraocular malignancies like retinoblastoma and choroidal melanoma.	false
+377869b55bae1956add79690e01fb9fd8763e18a	@DISEASE$ is probably a congenital @PHENOTYPICFEATURE$ whose pathogenesis has not yet been elucidated.	false
+f871e37e27e7701c55d1fe719787f075e89c8ecc	@DISEASE$ is a rare benign @PHENOTYPICFEATURE$ characterized by a variable combination of glial, vascular, and pigmented components.	false
+77073729e0c6fe3d2a2755c65f65ce8d0cbafeeb	@DISEASE$ are @PHENOTYPICFEATURE$ also described in NF-1, but this association has not been definitively established yet.	false
+5583e70740ed3a5af3ee5cccc95deb220a4b2086	Regarding @PHENOTYPICFEATURE$-related stains, we describe melanocytomas, congenital hypertrophy or reactive hyperplasia of the retinal pigment epithelium, @DISEASE$, and acquired vascular pseudotumors.	false
+70d360cf5bed81d344db6387e9e8ae3fc69aa813	Hereditary motor-@PHENOTYPICFEATURE$ and @DISEASE$.	false
+97f7dc91ac4eccf83787ff2053d076ea250b1d8b	Hypoechogenic BR is associated with depression in a number of neurological disorders such Huntington's disease, idiopathic Rapid Eye Movement (REM) sleep @PHENOTYPICFEATURE$, @DISEASE$, and cerebral small vessel disease.	false
+2de3ff7efb6ba740c26fdc16596520b35d8abd50	Three had nonspecific @PHENOTYPICFEATURE$ and were diagnosed later in life with underlying disorders (@DISEASE$, CHARGE association, velocardiofacial syndrome).	false
+86883ecc8c1d3058a478f2451536ecc05f2f734f	Congenital and @PHENOTYPICFEATURE$ @DISEASE$: importance of long-term data in natural history.	false
+cdc230c1bd385e62ddfb62a2e29df628a334cd7a	It is well established that various neuropsychiatric disorders (schizophrenia, @PHENOTYPICFEATURE$, etc.), trinucleotide expansion associated diseases (@DISEASE$, Huntington's, etc.) and even some forms of cancer have increased incidence in the offspring of older fathers.	false
+a72c682420767c56ee7a64f82f3247d2ff12c665	In gastrocnemius muscles, MAPs increased in disorders such as Duchenne MD, Fukuyama type congenital MD, facioscapulohumeral MD, @DISEASE$, dermatomyositis, Kugelberg-Welander syndrome, viral myelitis, malignant hyperpyrexia, @PHENOTYPICFEATURE$ and schizophrenia.	false
+ea1c84a5386c632b8938575d57b36327ee5738c0	Gastrointestinal symptoms in @DISEASE$ are increasingly observed, but major intestinal @PHENOTYPICFEATURE$ such as intestinal pseudo-obstruction appear to be an infrequent complication.	false
+2977b909ed2fbe6b3a4ac5eec24547716a7a5ad3	In soleus muscles, the increase of MAPs was demonstrated in Duchenne MD, Fukuyama type congenital MD, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ba9804ea4d2fe105cc7cbfb7fff88f7b89c48239	A patient with @DISEASE$ and associated primary hyperthyroidism and @PHENOTYPICFEATURE$ is described; this association has not been reported previously, to the authors' knowledge.	false
+2bdf362cd9582f219c8d39d2c909abb72ad2b6e3	The severity of skeletal and cardiac @PHENOTYPICFEATURE$ in @DISEASE$ correlates with age and CTG repeat length, suggesting a similar mechanism causing a time-dependent degenerative process.	false
+424fa67f5ef01b15e8b4055aae6a49ada8b16a3b	The original triad of signs, multiple nevoid basal cell carcinomas, jaw cysts and @PHENOTYPICFEATURE$, has been greatly expanded to include intracranial calcification, @DISEASE$, lymphomesenteric cysts, medulloblastoma and a whole host of minor and occasional (but valid) associated anomalies.	false
+8e3577840abcab2f382a78ddc5ebefe8033e2ae9	It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, @PHENOTYPICFEATURE$ and @DISEASE$, among other disorders.	false
+1e44315c272d1a570e34ebe36f938283dfe8168f	Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by basal cell carcinoma, @PHENOTYPICFEATURE$, benign tumors including @DISEASE$, and various other phenotypic expressions.	false
+8ed6aa7b1db64f0a0eec3da7e64c03d2dc7b8277	@DISEASE$43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$: Patients with trisomy (1)(q42-qter) present with psychomotor retardation, macrocephaly, occasional presence of facial capillary naevi, cardio-vascular anomalies and small size for gestational age.	false
+8cd0f032471d703af9523aab40c970fb1d6a556a	We report a case of severe HS in a patient with @DISEASE$;13, a very rare cytogenetic anomaly characterized by severe anomalies including dysmorphisms, multiple congenital malformations, @PHENOTYPICFEATURE$ and intellectual disability.	false
+e12e807b96cd8be1e4a110ad0a6fae17e5516c40	@DISEASE$43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and @PHENOTYPICFEATURE$.	false
+1654754e99a0428fbb70d787201c48872d254825	Heterozygosity for missense mutations in Seipin, namely N88S and S90L, leads to a broad spectrum of motor neuropathy, while a number of loss-of-function mutations in Seipin are associated with the Berardinelli-Seip @DISEASE$ (CGL2, BSCL2), a condition that is characterized by severe lipoatrophy, insulin resistance, and @PHENOTYPICFEATURE$.	false
+411cb40cf7baca1450fd6d0694bab8fbbd9e45a0	After further investigation, a diagnosis of @DISEASE$ with bilateral pneumonia and @PHENOTYPICFEATURE$ was made.	false
+3fbb83fdddbf36e4c9806149a2e295b04ccc61e3	After further investigation, a diagnosis of @DISEASE$ with bilateral @PHENOTYPICFEATURE$ and generalized tonic clonic seizures was made.	false
+836fda27a95cabe3378f481c41331c08d1f47f31	A total of 8,593 individuals with nonsyndromic @DISEASE$ and 6,989 siblings were identified, undergoing 201 and 21 first-time @PHENOTYPICFEATURE$ surgeries, respectively.	false
+6e98b9146e3fb2393504cc33814807a1a725a31a	Although most XP-A patients such as XP12RO have severe skin symptoms and neurological abnormalities of the @DISEASE$, patient XP39OS was an atypical XP-A patient who had mild skin symptoms and minimal @PHENOTYPICFEATURE$.	false
+bc706a61caa754f211842749c49f8228de1a9b29	The calcified choristoma of @DISEASE$, located within the sclera in this case, has distinctive clinical features that differentiate this benign @PHENOTYPICFEATURE$ from retinoblastoma.	false
+5411182949c059893234299ec3fecaae54c581e4	One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various neurological abnormalities incompatible with @DISEASE$, such as hyperhidrosis, @PHENOTYPICFEATURE$ and dysesthesia.	false
+d008ccc0a2f8d2d33b67eb56a5ac1a4d3493f188	Mutations in transmembrane protease, serine 6 (TMPRSS6), encoding matriptase-2, are responsible for the familial @PHENOTYPICFEATURE$ disorder @DISEASE$ (IRIDA).	false
+8059f46df48c262474c3acabdba9d099df8f8368	@DISEASE$ and isolated @PHENOTYPICFEATURE$ associated with lamin A/C gene mutations.	false
+129cf8482b413945fbbc9ffe3e083e608c3a801a	The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined @PHENOTYPICFEATURE$, @DISEASE$, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, obesity, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs.	false
+74734f88345f5ad543a1a6ec8ae14082bae0b5a7	As part of a large-scale, systematic effort to unravel the molecular causes of @DISEASE$, we have previously described a novel syndrome consisting of mental retardation, coloboma, @PHENOTYPICFEATURE$ and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4.	false
+f0a59204bafd850961e80bdb5145e342371a9b53	Non-islet-cell tumor @PHENOTYPICFEATURE$ and lactic acidosis in a child with congenital HIV and @DISEASE$.	false
+a06e707b98a95d1cdcea5198560cf3e73a7261f7	Intracranial @DISEASE$ with extension into orbital spaces resulting in bilateral @PHENOTYPICFEATURE$.	false
+d9a313043fb561aeff1814f86c9119864483d1b6	This was to evaluate the role of @DISEASE$ (BL) as a cause of @PHENOTYPICFEATURE$ in Nigerian children.	false
+8e96953a0008508e8a47ffc5c93088b43f81ff68	Two patients with @DISEASE$ presented with severe @PHENOTYPICFEATURE$, a previously unreported complication of this tumor.	false
+0c1832fe81e779eb3fb75e654de0d6912a7e4f15	@DISEASE$ is an important cause of childhood @PHENOTYPICFEATURE$ in Nigeria and the orbital disease ismainly extra ocular.	false
+79821bd6d019f24ae94645e063621003b13f3273	There are three principle pathogenic causes of malignant @PHENOTYPICFEATURE$, 1) hypercalcemia is a feature of several hematological cancers, including @DISEASE$, T cell leukemia, but most commonly with myeloma.	false
+060aff70b55f0b15ea994472c59cd0d329b017f4	H237P mutation was detected in two patients: Pt1 with autoimmunity/lymphoproliferation, severe @PHENOTYPICFEATURE$ and Pt2 with mild hypogammaglobulinemia and @DISEASE$.	false
+8c4d693afc1fad6dfa941d49bf8ae23c8abad0e0	We report here on an HIV-positive patient treated for a @DISEASE$ who developed gross haematuria associated with @PHENOTYPICFEATURE$ and burning urination.	false
+e86fa3e974cef337c129fb8d33940a6637dd5b9d	Fucosidosis patients' skin abnormalities include @DISEASE$, widespread telangiectasia, thick skin, @PHENOTYPICFEATURE$ and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+208f92ef69c713d15ae265be7a1dd425c914a44b	Histochemical and electron microscopic studies were performed in an attempt to clarify the muscle pathology in an 18-year-old man with @DISEASE$, showing proximal limb @PHENOTYPICFEATURE$, and his 52-year-old mother, who is a Fabry carrier with hypertrophic cardiomyopathy.	false
+94aadf89b991729660b506c63874cc7f29994873	For example, decreased native T1 values appear highly specific to detect and quantify disease severity related to myocardial iron overload states or glycosphingolipid accumulation in @DISEASE$, whereas high native T1 values are observed with @PHENOTYPICFEATURE$, amyloid, and other conditions.	false
+4e2c0aaf77204a88aff8ccea3f3db33480565a91	The diagnosis of @DISEASE$ is made in hemizygous males after the detection of the presence of angiokeratomas, irregularities in sweating, @PHENOTYPICFEATURE$, scant body hair, painful sensations, and of cardiovascular, gastrointestinal, renal, ophthalmologic, phlebologic, and respiratory involvement.	false
+bef1f258a0b72766c9827619cb015ba7feccfe58	The diagnosis of @DISEASE$ is made in hemizygous males after the detection of the presence of angiokeratomas (Fig. 19 A, B), irregularities in sweating, @PHENOTYPICFEATURE$, scant body hair, painful sensations, and of cardiovascular, intestinal, renal, ophthalmologic, phlebologic, and respiratory involvement.	false
+340c3a6581c2c8cf196e6a19712f61be2bf7639d	Although in @DISEASE$ facial dysmorphism is not a prominent sign, minor @PHENOTYPICFEATURE$ have been previously reported.	false
+4d1fee3f9f77c90f77f76eb14a54d146d676980d	Pathomorphological analysis of skin biopsy specimens from patients with @DISEASE$ showed @PHENOTYPICFEATURE$ and mucoid swelling of vascular walls in the skin, pronounced telangiectasias, endotheliocyte degeneration and death, compensatory proliferation of pericytes, and mast cell hyperplasia.	false
+ab2e9b62cf122ba9b05f88a3756f78dc9f509d72	Myocardial tissue characterization by CMR has emerged to not only quantify LV mass, but also detect and quantify the extent and severity of focal or diffuse myocardial fibrosis, @PHENOTYPICFEATURE$, inflammation, myocarditis, fatty replacement, myocardial disarray, and myocardial deposition of amyloid proteins (amyloidosis), glycolipids (@DISEASE$), or iron (siderosis).	false
+a83e8720d0c395f69ab97afba8da540e2259d5d2	@DISEASE$ is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (@PHENOTYPICFEATURE$, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia.	false
+bea2696013a5c8dde38d1cbeffa52d4915b7580d	@DISEASE$ is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, @PHENOTYPICFEATURE$ (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia.	false
+9ca87e88405c58d3a8c16050431378a4d19beef5	The authors describe a girl with @DISEASE$ who showed cerebral palsy and neurosensorial @PHENOTYPICFEATURE$.	false
+a7c2768367a68ce5aa57de0c2fe010ac8f22631f	@DISEASE$ is a rare developmental disorder characterized by coarse face, postnatal growth retardation, skin and musculoskeletal anomalies, @PHENOTYPICFEATURE$, mental retardation, and tumor predisposition.	false
+cbcbae4bea95dca7cb2ed929f8370a05894c354e	@PHENOTYPICFEATURE$ are important features of @DISEASE$ and other Ras/MAPK pathway syndromes ("RASopathies").	false
+65defc49c45659a85b9c0aea94c6106c0c66ef08	General anesthesia practice, especially airway and cardiac management, in patients with @DISEASE$ may be complicated by anatomical features and @PHENOTYPICFEATURE$.	false
+a4639636556f2faa938b9451c6e37c22608bfbef	Further delineation of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+c9103d73aef20b30fb2e7d966716e3fbd567fb29	The airway management and @PHENOTYPICFEATURE$ are the major concerns of an anaesthesiologist in @DISEASE$.	false
+ad769d39892e2b62133bf1da62a07ff6197eb580	@DISEASE$ is a rare genetic disorder characterized by mental and @PHENOTYPICFEATURE$ and distinctive coarse facies.	false
+0ac2517ee0903543e7768ec3e7bafee399e262a9	The @DISEASE$ is characterized by prenatally increased growth, postnatal growth retardation, coarse face, loose skin resembling cutis laxa, nonprogressive @PHENOTYPICFEATURE$, developmental delay, and a outgoing, friendly behavior.	false
+1c855c5c2773baf8edda53993065dc3925fd4d81	Despite multiple clinical reports of @PHENOTYPICFEATURE$, there has been only one previously published report describing post-mortem findings in hearts from @DISEASE$ patients.	false
+f65468492f6f37b3daf9eaf689bbcc575c90abee	Bacteriuria increases the risk of @PHENOTYPICFEATURE$ attacks in hereditary angioedema with @DISEASE$.	false
+8d9055c276d5e11d18ca95bc631431fb36da4a11	@DISEASE$ is a rare disorder, characterised by recurrent angio-@PHENOTYPICFEATURE$ of skin, upper respiratory and gastrointestinal tracts.	false
+078c269270721b20accfd5d83fa9e3ab49a80024	Hereditary angioedema with @DISEASE$ (C1-INH-HAE) is characterized by recurrent @PHENOTYPICFEATURE$ of unpredictable frequency and severity.	false
+ae35fe51084d386221bf5879cb1cc8d4f5589a0b	Hereditary angioedema (HAE) caused by @DISEASE$ is a lifelong illness characterized by recurrent acute attacks of localized skin or mucosal @PHENOTYPICFEATURE$.	false
+11aa0deda68cbe41982aa3ba31323365d49a718b	Hereditary angioedema (HAE) due to @DISEASE$ is a rare disease characterized by attacks of @PHENOTYPICFEATURE$, known to impact quality of life (QoL).	false
+b1e0b41cbb042e9ca4615a270d8832442b02089e	Hereditary angioedema (HAE) resulting from @DISEASE$ is characterized by attacks of subcutaneous and submucosal @PHENOTYPICFEATURE$.	false
+86ada730646f857fc45b53b7bbe6ce9facfa6459	Strong correlation of high EBNA-1-IgG levels with @PHENOTYPICFEATURE$ attacks involving upper airway mucosa in hereditary angioedema due to @DISEASE$.	false
+62ab2f9e23916e17d44bf2f8d59a2d32e73a72bb	@DISEASE$, or hereditary angioedema, is a genetic disorder characterized by recurrent circumscribed, nonpruritic, nonpitting subepithelial @PHENOTYPICFEATURE$.	false
+6b3def8dacde75feb6ad314129372c1f50d6747b	Hereditary angioedema with @DISEASE$ (C1-INH-HAE) is a rare, potentially life-threatening disorder characterized by recurrent @PHENOTYPICFEATURE$ attacks.	false
+767fb22752be0e126102bebb47d38d87ba031210	Hereditary angioedema due to @DISEASE$ (HAE-C1-INH) is characterized by recurrent @PHENOTYPICFEATURE$ attacks in various organs.	false
+f66c6d5cbbf1c728f2f0a6b5374ee6b6d81271d9	At fever onset, no significant difference in PCT values was observed between different aetiologies of @PHENOTYPICFEATURE$, whereas median CRP values were significantly higher in case of @DISEASE$ (median 98.8 mg/L vs 28.8 mg/L, p=0.027).	false
+603823686524f24a6f7327523bca5121a7cd407b	Neurological complications of @DISEASE$ commonly were cranial nerve palsies, @PHENOTYPICFEATURE$, aseptic meningoencephalitis, peripheral neuropathy and Miller-Fisher syndrome.	false
+87756a2d7cb304afa5ed71efc9561e0a39885097	PH1 is an inborn @DISEASE$ of the metabolism in which a functional deficiency of the liver-specific peroxisomal enzyme, AGT, causes hyperoxaluria and hyperglycolic @PHENOTYPICFEATURE$.	false
+c3c4f976837cd8724d275bfd3a31e40204f8ab3c	They also targeted inborn metabolic @DISEASE$ (e.g., familial @PHENOTYPICFEATURE$) whose palliation by portal diversion presaged definitive correction with liver replacement.	false
+21c828deef437febd69d96d51c548c191b7fdec5	Alpha-aminoadipic and alpha-ketoadipic aciduria is an @PHENOTYPICFEATURE$ inborn @DISEASE$ of lysine, hydroxylysine, and tryptophan degradation.	false
+edbf7d511aae2d40ea26b35a605e4c33362f3e08	Primary hyperoxaluria type 1 (PH1) is an orphan inborn @DISEASE$ of oxalate metabolism leading to hyperoxaluria, progressive @PHENOTYPICFEATURE$, oxalate deposition, and increased cardiovascular complications.	false
+75230bc5cd4668895dc25681ad0ba1449dd96485	Nasal gliomas are benign @PHENOTYPICFEATURE$ results from embryonic developmental @DISEASE$.	false
+95b8b45b882b1414f8e3bae0bd16eec8cb0b0e90	Phenylketonuria (PKU) is an @PHENOTYPICFEATURE$ inborn @DISEASE$ of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene.	false
+29db8e566c6b72ce8ad4b543d0ee9b0c7247ce4a	Congenital adrenal hyperplasia (CAH) is an @PHENOTYPICFEATURE$ disorder associated with inborn @DISEASE$ of steroid metabolism.	false
+3c52cf6640ceff3783cd99620d91cdc7f53f021d	Inborn @DISEASE$ of bile acid metabolism are rare causes of neonatal @PHENOTYPICFEATURE$ and liver disease in older children and adults.	false
+33c18b092d31f413050e7acba5dc63874f3db447	Guanidinosuccinic acid in @PHENOTYPICFEATURE$, experimental azotemia and inborn @DISEASE$ of the urea cycle.	false
+8d737a6290ad9854cd8cfd2a331ea90bf7716ef8	Nonketotic hyperglycinemia is an autosomal recessive @DISEASE$ of glycine metabolism, characterized by @PHENOTYPICFEATURE$, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death.	false
+f2b47c61f2e1f473358611a10acc7e7d5281f85c	@DISEASE$ (16-18) associated with congenital glaucoma and @PHENOTYPICFEATURE$.	false
+ebb0b4505e499c2841f33a24ce8dff27fed7f655	Long-term morbidities associated with @DISEASE$ include chronic lung disease, retinopathy of prematurity, and @PHENOTYPICFEATURE$.	false
+322f052c76c02c05c60c99abe652bbb00078edd4	There is some preliminary evidence to suggest that prodromal symptoms of headache, @PHENOTYPICFEATURE$, and anxiety may predict @DISEASE$ symptom presentation during an acute cardiac event.	false
+16d63e1af8ac7d8dac425877a08f2f2da2e7fae4	Within a case-crossover design, using a standardised questionnaire, interviews among 348 ST-elevation myocardial infarction (44%) or high-risk non-ST-elevation @DISEASE$ patients (56%), explored potential precipitants, including: infection (INF)-temperature >38?C and/or respiratory tract, urinary or @PHENOTYPICFEATURE$; inflammation (INFL)-exacerbation of inflammatory conditions; exercise (EX)-moderate to heavy exercise; fast food (FF)-consumption of a meal purchased from a fast food company.	false
+daad6b9c672165642046e50b56779ff9d04687de	Smoking and asthma @PHENOTYPICFEATURE$ and whether they had had @DISEASE$ episodes were determined, and lung function was measured at the initial assessment.	false
+018ce1021be04a4f368d5fb5b350fbe866244d79	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, @DISEASE$, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome.	false
+2f2df60734112f75e17924eb0dcfcf4b38b5c1b5	However, considering the high rate of association of isolated hypogonadotropic hypogonadism and Moebius syndrome with @PHENOTYPICFEATURE$, the present case may indicate a causal relationship between isolated @DISEASE$ deficiency and Moebius syndrome, reflecting the disorders in the organ systems derived from a common ectoderm.	false
+3c61fdfa7c366b567402d2d4037f24734f1579c4	Predictive values for definite stroke, early @PHENOTYPICFEATURE$, spontaneous early neurological improvement and death within 1 week after @DISEASE$ were calculated using ROC curves and logistic regression modelling.	false
+30b9b178055b1b5eba8c576c43c3a14d4d5c4878	This is the first report of ossicular fusion and @PHENOTYPICFEATURE$ in @DISEASE$ and the most detailed in vivo evidence of disruption of embryogenesis during malleoincudal joint formation.	false
+af3c6e4967a1c864f3ee1cddc19ff0985d42c055	Alveolar hypoventilation linked to infarcts of the thoracic ribs, thoracoabdominal trauma, subdiaphragmatic pain, the administration of analgesics causing respiratory depression, or @PHENOTYPICFEATURE$, is a frequent cause of @DISEASE$.	false
+9e93832fd7fa5614e5bd9e695bd5e7eb3580d03e	@DISEASE$ is rare and consists of a constellation of findings including mental retardation, characteristic oculofacial features, and @PHENOTYPICFEATURE$.	false
+4b998fb781fff5da711ddb6abec9252eebdb2b78	@DISEASE$ is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, @PHENOTYPICFEATURE$, mental retardation, and dermatoglyphic abnormalities.	false
+1c6cb6b5ed57909a9a082fb048e4e61532bfab95	@DISEASE$ (KS) is a rare congenital and polymalformative condition, traditionally associated with mental retardation, unusual facial features, and @PHENOTYPICFEATURE$.	false
+1b5bad4ed74642b1ffbcfd075b33e22d6b73fa8e	@DISEASE$ (KS) is a rare disorder characterized by somatic and psychological disturbances including special face morphology, @PHENOTYPICFEATURE$, and other systemic disorders.	false
+8a9973e685bdc08770353c8cf7fd99baec4ed1f5	KMT2D mutations have also been implicated in @DISEASE$, which features a distinct facial appearance, @PHENOTYPICFEATURE$, growth retardation and intellectual disability.	false
+4f79de6407decd9819ece82c5cec34cb74a3ef00	@PHENOTYPICFEATURE$, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in @DISEASE$: a rare combination.	false
+486301c28cd730ab0b9c1e7facfa47f7ad7efa11	We report on a Brazilian girl with @DISEASE$ (KS) and lower lip pits and @PHENOTYPICFEATURE$.	false
+6a592043cc50e50b8aaa71332aca59c5b70465a0	Lower lip pits and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b0e2169fb287441dc71ab7d7765986cc94228964	@DISEASE$ (KS) is characterized by @PHENOTYPICFEATURE$, short stature, characteristic facial features, postnatal growth delay, and mental retardation.	false
+ae44531a692a3a31abecde752fdf745a02e3881e	@DISEASE$ is characterized by distinctive facial features, @PHENOTYPICFEATURE$, persisting fingertip pads with dermatoglyphic abnormalities, postnatal growth deficiency and mental retardation.	false
+550f0d00eb2ea31cbb0660c37ace2e7787473e52	Chromosome @DISEASE$ is a rare disorder characterized by mild-moderate psychomotor and @PHENOTYPICFEATURE$, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial characteristics.	false
+55c907b8961d048d0e74f0211e32973133c8f83b	In humans, HDAC4 deficiency is associated with non-syndromic @PHENOTYPICFEATURE$ and @DISEASE$ (BDMR) with craniofacial abnormalities.	false
+eed7efbacae48375f014e4c66c897765a51f0f22	@DISEASE$ is a potential cause of @PHENOTYPICFEATURE$ and mortality but little is known of the natural history of this condition in inflammatory bowel disease.	false
+55a85ebffad91838c2db8c0b869d45cae17e917e	Clinically, FMF can be distinguished into three phenotypes: type 1, which is commonly associated with recurrent short episodes of inflammation and serositis, including fever, peritonitis, synovitis, pleuritis, but also pericarditis, orchitis or @PHENOTYPICFEATURE$ episodes; type 2, characterized by the evidence of reactive amyloid-associated (AA) amyloidosis, the most severe complication of FMF, as the first clinical manifestation of the disease in an otherwise asymptomatic individual; type 3, referred to the 'silent' homozygous or compound heterozygote state, in which two MEFV mutations are detected without signs or symptoms of FMF nor of @DISEASE$.	false
+d53759a20c4b3211c348343051ffb3260cbdf16f	@DISEASE$ as an unusual cause of @PHENOTYPICFEATURE$.	false
+c6b4fb47bc43bb729aed65fc7eb5c376a946333a	Diagnostic work up of an adult female patient with systemic @DISEASE$ revealing the cause of infantile @PHENOTYPICFEATURE$.	false
+353156e17bcd45225348131046a82784f5576853	Very-Long-Chain Acyl-CoA Dehydrogenase deficiency (@DISEASE$) is an autosomal recessive disorder considered as one of the more common ss-oxidation defects, possibly associated with neonatal @PHENOTYPICFEATURE$, infantile hepatic coma, or adult-onset myopathy.	false
+b26daaa42b8b62e420bb08c02b8bf3b4b8653026	@DISEASE$ (VLCADD) is an autosomal recessive disorder considered as one of the more common ss-oxidation defects, possibly associated with neonatal @PHENOTYPICFEATURE$, infantile hepatic coma, or adult-onset myopathy.	false
+2e28541fa5b0aca0472b89be2dcbfb4a3646c09b	The phenotype of @DISEASE$ is heterogeneous, ranging from catastrophic metabolic and @PHENOTYPICFEATURE$ in infancy to mild hypoketotic, hypoglycemia, and exertional rhabdomyolysis in adults.	false
+30e78a09b10cf2b2a2b2fb50848a6d4c876cfd81	The main histologic lesions of @DISEASE$ were perivascular @PHENOTYPICFEATURE$ in lungs and kidneys, vascular congestion of various organs, renal perivenous hemorrhage, and proliferative arterial and arteriolar lesions in the spleen and kidneys that were more severe than those in controls.	false
+9095b8f2c71455eacce512ec5b7743ccb250c43d	The association of complex @PHENOTYPICFEATURE$ with hypothalamic hamartoma lead to the diagnosis of @DISEASE$.	false
+c284b9f67987e1af5a78d9dc0382f38f91456af7	One of the born children had @DISEASE$ and died on day 19, and another had Aicardi's syndrome, is retarded and has fits, 1 with a posterior fossa cyst developed @PHENOTYPICFEATURE$ in utero and was delivered early for the insertion of a ventriculoperitoneal shunt, he is moderately mentally delayed.	false
+416a818ecd6d87616ad97faded260bd299fec11c	Only recently, mutations in this gene have been shown to result in Pitt-Hopkins syndrome (@DISEASE$), defined by severe MR, epilepsy, mild growth retardation, @PHENOTYPICFEATURE$, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep-set eyes, broad nasal bridge, and wide mouth with widely spaced teeth.	false
+a34302646a4c7567d0d70373a99e67cc24b4a142	Review of available literature shows that 61 patients with @DISEASE$ commonly develop macrodactyly, limb overgrowth, spinal deformity, hip dysplasia, genu valgum, exostoses, @PHENOTYPICFEATURE$, and hindfoot deformities.	false
+d78297732be6a09f96cad74d4957f115e9a8f055	A 2-year-old boy with @DISEASE$, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, overgrowth of tubular bones, bilateral @PHENOTYPICFEATURE$, and juvenile intestinal polyposis was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+32adf4c601adc3d6d7973db18997f8e7638461da	@DISEASE$: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo @PHENOTYPICFEATURE$.	false
+b27ad3d235d921920f57e3b4c561089439dea23f	? 60), @DISEASE$, back pain, diabetes, pulmonary @PHENOTYPICFEATURE$, ischemic heart disease, functional status, and American Society of Anesthesiology classes 4 or 5. Our final gastric bypass model was predictive (c-statistic = .68) of serious adverse events 90 days after surgery.	false
+4bd1648716d9d115e2376bc411bb7afb26696a3e	In conclusion, the nodular/@DISEASE$ appears to have clinical, genetic and biological characteristics that set it apart from other variants of this @PHENOTYPICFEATURE$.	false
+d93c6f0a9a2b1e271c40dde6bdf2a03cd5df2740	Ovarian primitive-type neuroectodermal @PHENOTYPICFEATURE$ composed of @DISEASE$-like and atypical teratoid/rhabdoid tumour components.	false
+8217657e05a19da76deed1e8cd2a08162758ddaf	Ovarian primitive-type neuroectodermal tumour composed of @DISEASE$-like and atypical teratoid/rhabdoid @PHENOTYPICFEATURE$ components.	false
+5b9a7cf27f116ee2b28dd5fb65a4be98bf14559c	The authors present a patient with subcutaneous @PHENOTYPICFEATURE$ associated with a @DISEASE$.	false
+887ced497948e84cc64ebe511093f4cf1f8cc774	Two of three @PHENOTYPICFEATURE$ contained the regions of different degrees resembling @DISEASE$ and one consisted of neuroblastic cells exclusively.	false
+6478e7ef34f2ebfafd2f3b86b1e42ed1e387c480	@DISEASE$ (DMB) is a malignant cerebellar @PHENOTYPICFEATURE$ composed of two distinct tissue components, pale islands and desmoplastic areas.	false
+784e060041bf0ec7fbd031f938b71ee89fb09ea0	Morphologically, two variants of @PHENOTYPICFEATURE$ were found: soft and infiltrative classical medulloblastoma (12 cases) and @DISEASE$ which was firmer and better limited (5 cases).	false
+5f11d9445ebf06d82cf18a61ff629bd594f22a3f	We present three cases of genetically confirmed Gorlin syndrome with @DISEASE$ (DMB) in whom @PHENOTYPICFEATURE$ recurred despite standard therapy.	false
+f7f9a4e0358db8a028b2dd706ab13f5ff42a7a9f	In some @PHENOTYPICFEATURE$, p27/kip-1 expression can be attributed to a differentiation process, as in the pale islands of @DISEASE$ and in neuroblastomas.	false
+6e43f68fb456b8758ae32d877910806d52268259	Additionally, desmoplastic @PHENOTYPICFEATURE$ lacking detectable LOH each showed histological features of so-called cerebellar neuroblastoma, a subgroup of @DISEASE$ with extensive neuroblastomatous differentiation.	false
+0543cc231ebf80b575d6b220738de403e9786788	Patients with @DISEASE$ and lateral @PHENOTYPICFEATURE$ location (n=19) had a lower EFS compared to patients with centrally located desmoplastic tumours (n=10) (p=0.011).	false
+0eebcc4590080011407d6fa467761ae52680fb93	Patients with @DISEASE$ and lateral tumour location (n=19) had a lower EFS compared to patients with centrally located desmoplastic @PHENOTYPICFEATURE$ (n=10) (p=0.011).	false
+232a361ef7746926ebc29c2afea2d6fa65d59b4a	@DISEASE$ syndrome: a rare cause of @PHENOTYPICFEATURE$.	false
+03d7fad69e2aa66d3901916443f79808c098ddaf	Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis, @DISEASE$.	false
+1824e3d3c7de89abfba87a18cd2f03187bf05986	Missense mutations in the mitochondrial seryl-tRNA synthetase gene, SARS2, have been identified in @DISEASE$ (hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy, and alkalosis).	false
+fc68e82d802f62112ee679e214cfcdd4552c46ff	@DISEASE$ (dRTA) is characterized by a reduced ability to acidify urine, variable hyperchloremic hypokalemic @PHENOTYPICFEATURE$, nephrocalcinosis, and nephrolithiasis.	false
+3c5dc144a707fc610fa0bc1130da2b90832ceb38	Novel compound heterozygous mutations, G701D, a recessive mutation, and A858D, a mild dominant @PHENOTYPICFEATURE$, of human solute carrier family 4, anion exchanger, member 1 (SLC4A1) were identified in two pediatric patients with @DISEASE$ (dRTA).	false
+6e69312b42039337c04875dd4ea88c972f1e30d9	Primary @DISEASE$ (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic @PHENOTYPICFEATURE$, nephrocalcinosis, and nephrolithiasis.	false
+bfe3b961a644549972e8adfedf7ace554e66778c	We describe a girl with lupus nephritis who presented with @DISEASE$ and hyporeninemic @PHENOTYPICFEATURE$.	false
+912f90d74c5c8f4c424f12fd80f72d00ca03abcb	Concomitant @PHENOTYPICFEATURE$ and hyperammonemia associated with @DISEASE$.	false
+bc60756f920d6848fb589e8192f20b4821134a20	Tubulo-interstitial nephritis constitutes the most frequent renal lesion and distal tubular @PHENOTYPICFEATURE$ (Type 1) is the most important clinical manifestation of this tubular dysfunction, although the occurrence of chronic renal insufficiency is not an uncommon finding in the presence of @DISEASE$.	false
+06e8e4f4512661ae906fe58f7e8f229bf344c77c	A case of @DISEASE$ is reported who first presented with muscular @PHENOTYPICFEATURE$ and acute respiratory failure followed by heterotopic soft tissue ossification and acute seronegative gonarthitis.	false
+2a4f8502eb8705456cd1944b158609a4ca118cbb	@DISEASE$ (SPS) is a rare autoimmune @PHENOTYPICFEATURE$ characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65).	false
+b9c9b4c02a6911d49acb097143bfacc4f709a46e	Spinal-generated @PHENOTYPICFEATURE$ (SGMDs) include spinal segmental myoclonus, propriospinal myoclonus, orthostatic tremor, secondary paroxysmal dyskinesias, @DISEASE$ and its variants, movements in brain death, and painful legs-moving toes syndrome.	false
+cd5eba39c09a7139c3f508a675d2c4f9f3ee3de9	The author reviews the applications of transcranial magnetic stimulation (TMS) in a series of @PHENOTYPICFEATURE$--namely, Parkinson's disease, corticobasal degeneration, multiple system atrophy, progressive supranuclear palsy, essential tremor, dystonia, Huntington's chorea, myoclonus, the ataxias, Tourette's syndrome, restless legs syndrome, Wilson's disease, Rett syndrome, and @DISEASE$.	false
+1bbe6919e0c03f2b89470e266434c36205544a8d	Recommendations for use of IVIG were made for 14 conditions, including acute disseminated encephalomyelitis, chronic inflammatory demyelinating polyneuropathy, dermatomyositis, diabetic neuropathy, Guillain-Barr? syndrome, Lambert-Eaton myasthenic syndrome, multifocal motor neuropathy, multiple sclerosis, myasthenia gravis, opsoclonus-myoclonus, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, polymyositis, Rasmussen's encephalitis, and @DISEASE$; IVIG was not recommended for 8 conditions including adrenoleukodystrophy, amyotropic lateral sclerosis, @PHENOTYPICFEATURE$, critical illness polyneuropathy, inclusion body, myositis, intractable childhood epilepsy, paraproteinemic neuropathy (IgM variant), and POEMS syndrome.	false
+b0515e629b042434db6bef47ef05c1cefb5b0bd8	However, there are two conditions, @DISEASE$ (also known as stiff-man syndrome) and progressive encephalomyelitis with rigidity and myoclonus (PERM), that are always autoimmune @PHENOTYPICFEATURE$.	false
+bb4a2d72363f3f8898b66b8c06d595f3c5d85e65	Compared to CI patients, CR patients were more likely to present with @PHENOTYPICFEATURE$ or @DISEASE$, have inflammatory CSF markers, cancer or smoking history, concomitant hyponatremia, and classical onconeuronal antibodies.	false
+ac52e9dc26cda59fda060e3cce0f0b9be6ebf265	In the present study, we established models of @DISEASE$ and late cancer @PHENOTYPICFEATURE$ (LCC) and compared different stages of cancer cachexia using two cancer cachectic mouse models induced by colon-26 (C26) adenocarcinoma or Lewis lung carcinoma (LLC).	false
+2f90837a3f769ea75ad1bbac2698989188e99c0c	Aortic regurgitation (AR) in horses can lead to left ventricular (LV) @DISEASE$ hypertrophy, @PHENOTYPICFEATURE$ and heart failure.	false
+b4989b3a048a004d34fff165d2113518039c2bbf	No associations were found between vasculopathy and common clinical features of neurofibromatosis type 1, including @DISEASE$, plexiform neurofibroma, @PHENOTYPICFEATURE$, attention-deficit hyperactivity disorder (ADHD), or suspected learning disability.	false
+a363d970e7fa16365810c81302779c31cdce05ae	There seem to be both @PHENOTYPICFEATURE$ and possible premature neurodegeneration in @DISEASE$.	false
+391d7d81ce7e7f03e487f0e910737bfc088d918d	He also had a @PHENOTYPICFEATURE$ and @DISEASE$.	false
+608d6527442ff89a7b15c26b4b3faa876944c466	@DISEASE$, subglottic stenosis and @PHENOTYPICFEATURE$: a case report.	false
+ff46fe6a14df5f798277e9dc3b7290678f56b7b3	2. The decrease in @DISEASE$ and GPx activities and TAS in men with advanced coronary atherosclerosis was more pronounced than the degree of @PHENOTYPICFEATURE$ or hypertriglyceridemia. 3.	false
+a4f08976948230d9c5808308535b91edb19ede69	Liddle's syndrome, a rare cause of hypokalemic @PHENOTYPICFEATURE$, is characterized by a renal tubular @DISEASE$ channel defect resulting in excessive sodium absorption and concomitant potassium wasting.	false
+dfe72b8af772d60750aedefb2cccc8935205ac42	We draw attention to the phenotypic overlap between the disorganization-like syndrome and @DISEASE$ with @PHENOTYPICFEATURE$.	false
+18232f2bf7aa0dc9649e208cb867a08539cdc916	@DISEASE$ (SOD) is a highly variable condition characterized by midline @PHENOTYPICFEATURE$ associated with pituitary hypoplasia and optic nerve hypoplasia.	false
+5d7f06fb1d04946bf37d707127a3bceb4f850fcb	Septo-optic dysplasia (@DISEASE$) is a highly variable condition characterized by midline @PHENOTYPICFEATURE$ associated with pituitary hypoplasia and optic nerve hypoplasia.	false
+bcd547c38b616b4fede60809e1b68468e1b68ae2	The diabetic pregnant rats presented hyperglycemia, hyperlipemia, hypertriglyceridemia, @PHENOTYPICFEATURE$, hyperuricemia, decreased determinations of reduced glutathione (GSH) and superoxide dismutase (@DISEASE$).	false
+664ff31af6ca4a91a1ba61819ed6237f5b264672	@DISEASE$, @PHENOTYPICFEATURE$ and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.	false
+ab7e85bbdf970b2772ecb71eff60c9ee07d3b4c4	The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+9759e1482936f9cad8ecd08175566ae2bb4e5a13	The diabetic dams presented hyperglycemia, hyperlipemia, hypertriglyceridemia, @PHENOTYPICFEATURE$, hyperuricemia, decreased reduced glutathione (GSH), hepatic glycogen and superoxide dismutase (@DISEASE$) determinations.	false
+0ea973aa134e77c680d167ab36571e1b4e825102	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, @DISEASE$, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+a7049bcd400e1a6c6230cea98a1b7deb59816e74	[A case report of @PHENOTYPICFEATURE$ and prosthetic treatment of @DISEASE$].	false
+78438115f3af92e4e2141f123d983fa1511c4f7b	ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and @DISEASE$.	false
+ed8c51d97968b25b8d6e02395dd72a48e477eeb0	Diffuse skin lesions with excoriation and desquamation suggest @DISEASE$, despite the absence of ankyloblepharon, however; @PHENOTYPICFEATURE$ and polydactyly strongly suggest the EEC syndrome.	false
+7c3dc9adf1146211a5204a6805f9b88b58b33c5e	p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (@PHENOTYPICFEATURE$, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC (ankyloblepharon, ectodermal dysplasia, clefting) syndrome (also called @DISEASE$).	false
+7ca5e73529b52dfcfddd73f914cfb89346077710	Here, we report a patient with an EEC/@DISEASE$-like phenotype, including ankyloblepharon, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional hypogammaglobulinemia, and growth delay.	false
+cb14c7f1a286132f7edf5674326028c097cfff38	Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: @PHENOTYPICFEATURE$-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (@DISEASE$, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2].	false
+bf63638f88176ec6f351a97eaab18e2ebb21031d	The authors report a patient with 17 months old girl with @DISEASE$ having ankyloblepharon, cleft and palate, and @PHENOTYPICFEATURE$ with some associated features.	false
+36daf22a08ea1a50bc3f3c0d0b0b04999898249c	Mutations in the p63 gene are found in a number of human syndromes, including @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), @DISEASE$ and in non-syndromic split-hand/split-foot malformation (SHFM).	false
+e1c28693220bf8f55437dfeb508835a1eb574465	Most EDs are defined by particular clinical signs (for example, eyelid adhesion in @DISEASE$, @PHENOTYPICFEATURE$ in EEC).	false
+ff1e878ee569b8194ccde4d60442bda53357c48b	The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, @PHENOTYPICFEATURE$, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or @DISEASE$ (ankyloblepharon, ectodermal defects, cleft lip/palate).	false
+c050341c65cc9b2e0ccfef2b4c3bcf8d99b28b5a	The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid @PHENOTYPICFEATURE$; and (3) the Hay-Wells or @DISEASE$ (ankyloblepharon, ectodermal defects, cleft lip/palate).	false
+1c74d0c67b466861ff8bde2b96dbf1a52da630dd	Another 11-year-old boy, suffering from a serious @DISEASE$, presented skin lesions of @PHENOTYPICFEATURE$ gangraenosum.	false
+135e5465bb9899521014294cddc908150f90c62f	Agenesis of tibia with @PHENOTYPICFEATURE$/Gollop-Wolfgang complex associated with @DISEASE$ and additional skeletal abnormalities.	false
+01f290aea4f163bb7cd39e3c4ea5e686730cf636	Evaluating pain in adults with intellectual and developmental @PHENOTYPICFEATURE$ (@DISEASE$) is a challenge.	false
+2e14f55ff0b6ac046d11ea68185e0b61eb39d76d	The vestibulo-ocular response (VOR) may not be fully developed in children with an intellectual and developmental @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a9ae2698e87c1aed7ce7a15a8ba1b6e4dfdb639d	We report on two @PHENOTYPICFEATURE$ male children of consanguineous parents who seem to be affected by an @DISEASE$ syndrome.	false
+3dde8d671e508413e2ef35791399b29e568cddff	Group processes involved in coming to terms with a @PHENOTYPICFEATURE$ @DISEASE$.	false
+96e13edb9b0289a63e90a67a8300cf522ccb36ce	An important line of research involves asking people with intellectual and developmental @PHENOTYPICFEATURE$ (@DISEASE$) to self-report their experiences and opinions.	false
+0c09c7daa739136bcc255323232fe6e21d6041de	Implications for Rehabilitation People with intellectual and developmental @PHENOTYPICFEATURE$ (@DISEASE$) face numerous challenges in indentifying work options and overcoming barriers to employment.	false
+c31efe80d9d552d05b1a2c253f361588c6114703	However, no study has estimated this risk for youth diagnosed with an intellectual or developmental @PHENOTYPICFEATURE$ (@DISEASE$).	false
+9882f84338dfbe6c92540ae5b086900beec84a0e	Adults with intellectual/developmental @PHENOTYPICFEATURE$ (@DISEASE$), and their occupational participation, are vastly under-represented in Hollywood films.	false
+fb4b9c48344d26276cdb23f38aa166dfb39e7e0f	To compare preventive dental utilization for children with intellectual and/or developmental @PHENOTYPICFEATURE$ (@DISEASE$) and those without IDD and to identify factors associated with dental utilization.	false
+8e2a2347b75c452017896be6c0ab2d39f94a916d	To compare preventive dental utilization for children with intellectual and/or developmental @PHENOTYPICFEATURE$ (IDD) and those without @DISEASE$ and to identify factors associated with dental utilization.	false
+99c069deb5e37f0b166bf8cf3b69abe453bc5d2b	Increases in intellectual and developmental @PHENOTYPICFEATURE$ (IDD) diagnoses coupled with higher rates of inclusion in school and community settings, has created more opportunities for exposure and integration between those with @DISEASE$ and the mainstream population.	false
+41390e045a4613d06835bfb727d8a379ecf631ca	Increases in intellectual and developmental @PHENOTYPICFEATURE$ (@DISEASE$) diagnoses coupled with higher rates of inclusion in school and community settings, has created more opportunities for exposure and integration between those with IDD and the mainstream population.	false
+9ec66ba731915382b478ce93c76449180092af9e	@PHENOTYPICFEATURE$ foot blistering is a common problem in patients with epidermolysis bullosa simplex (EBS) and @DISEASE$ (PC).	false
+7748dff7a4f1daadc686f0dd1bb009dd5ba36b30	Primary Plasma cell @PHENOTYPICFEATURE$ (pPCL) is a rare plasma cell (@DISEASE$) malignancy.	false
+264cc9535287fc21edbeedaa150e49c18c009c91	The case of a 24-year-old male patient affected by follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, pilonidal cyst and dissecting cellulitis of the scalp) associated with clinical signs of @DISEASE$ (PC)-2 (focal palmoplantar keratoderma, plantar @PHENOTYPICFEATURE$, onycodystrophy and multiple cysts) is reported.	false
+e1bd51f598f564fb8f034a0b37208f23ab75f06c	The propositus, and 18-year-old man, was evaluated following an intracerebral hemorrhage at age 15 years and was noted to have marked hypotonia, motor delay with @PHENOTYPICFEATURE$, @DISEASE$, failure to thrive, and diarrhea from infancy; seizures from age 3 years; and abnormal hair (pili torti) and face, cutis laxa, and multiple joint dislocations.	false
+07ab9a400bc808690a351baa7b4b1d24540b0e9e	Significant @PHENOTYPICFEATURE$ was observed in 21 out of 63 cases of Duchenne muscular dystrophy (DMD), 7 out of 15 Becker muscular dystrophy (BMD), no case of 2 female dystrophinopathy (F-dyst), 11 out of 21 limb-girdle muscular dystrophy (LG), all cases of 10 Fukuyama type congenital muscular dystrophy (@DISEASE$), 2 out of 5 fascioscapulohumeral muscular dystrophy (FSH), and 32 out of 44 myotonic dystrophy (MyD).	false
+de59f3e730792f856f8aa03029a6c76e234ee776	Gross necropsy findings in the cattle with @DISEASE$ were uncollapsed and emphysematous lungs; histopathologic findings included interstitial @PHENOTYPICFEATURE$, thickening of alveolar walls, hyaline membrane formation, and hyperplasia of type-II pneumonocytes.	false
+8d48118866f8ce6bd2dc93b0eb71c631b4e4d681	Microscopic examination of the lungs revealed mild @DISEASE$, with perivascular @PHENOTYPICFEATURE$ and inflammation, and a detectable margination of neutrophils around larger pulmonary blood vessels.	false
+6e5df59a96c02b8fdd7a660c777292145788df27	Compared to healthy subjects, @DISEASE$ patients displayed significant global @PHENOTYPICFEATURE$ and executive function deficits.	false
+c4eeb7e7ea32e6d49a9a1baac1950c5596a6644f	Indeed, defects in lytic granule secretion lead or are related to serious and often fatal diseases, such as @DISEASE$ (FHL) type 2-5 or Griscelli syndrome type 2. A number of reports highlight the role of several proteins involved in lytic granule release and NK cell-mediated killing of @PHENOTYPICFEATURE$ cells.	false
+7269320aae1a0e820215723cc15b31651e05c883	[Bilateral conjunctival manifestation of a generalized @DISEASE$ in a patient with @PHENOTYPICFEATURE$ teleangiectatica (Louis-Bar-Syndrome)].	false
+bcb4d96f55086ecfacd7c5e2a64008c6e4d7e879	We here present a case of an HIV-positive patient with neurological signs and symptoms (headache, asthenia, confusion, hallucinations, @PHENOTYPICFEATURE$) with concurrent opportunistic diseases (neurotoxoplasmosis, disseminated @DISEASE$, disseminated CMV infection).	false
+79ef61810f73795d22d59b5d9bc405e71a9dd261	There were significant alterations in the distribution of LC and IDC in AIDS-associated Kaposi's sarcoma when compared to HIV-@PHENOTYPICFEATURE$ vascular oral lesions, suggesting that changes in their concentrations may play a role in the pathogenesis of @DISEASE$.	false
+e86866afeb6ae10ac60ce4763d6f8b0010874b51	Root anomalies and @DISEASE$ in autosomal recessive @PHENOTYPICFEATURE$ familial tumoral calcinosis (HFTC).	false
+afd294f613fd0e8b0730848dac1034af091aedd4	@DISEASE$ with congenital cataract and @PHENOTYPICFEATURE$ without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.	false
+e0163821bba95df8405ef4b6743f741efd8a221c	[A case of treated primary sterility and the course of pregnancy in the @DISEASE$ associated with pituitary adenoma and @PHENOTYPICFEATURE$].	false
+bfd5dbb37c420635adddacd1d34e2bd0c351e54e	We report the case of a 34 years old woman presenting a unique giant sellar and parasellar aneurysm associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f2e01fd972ed13a57e69e91c98cdab99903237e5	@PHENOTYPICFEATURE$ and @DISEASE$ caused by thrombosis of both internal carotid artery and giant intrasellar aneurysm: case report.	false
+1410e724da10a1f9953b43e7720e406eaa9765c4	This article specifically focuses on significant medical and rehabilitation issues pertinent to persons with cerebral palsy, @PHENOTYPICFEATURE$, @DISEASE$, and selected other neurologic and neuromuscular diseases.	false
+19b68dfa47c6e8b9b4f4979a59992ba858008afd	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, Aicardi syndrome, coxo-auricular syndrome, and @DISEASE$.	false
+151f19ddd0ef1e46fc3c7ef373b7a60e4fec3f25	@DISEASE$ (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, @PHENOTYPICFEATURE$ with the characteristic nasal wing hypoplasia, multiple malformations, and frequent mental retardation.	false
+843eba0d2f4dadaeca011bbf840f49ff129cdae5	May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), Sebastian syndrome (SBS), and Epstein syndrome (@DISEASE$) are a group of rare, autosomal dominant disorders characterized by thrombocytopenia, giant platelets, and D?hle-like inclusion bodies, together with variable manifestations of Alport-like symptoms that include high-tone sensorineural deafness, @PHENOTYPICFEATURE$, and nephritis.	false
+99bc215bde63bd82cd63b2930a90a3836b77e8d0	Monkeys showed severe EPS-like clinical signs such as abnormal posture, @PHENOTYPICFEATURE$ and hallucination-like behavior at relatively low exposures compared to those associated with @DISEASE$ in patients with schizophrenia.	false
+2e54d53ae91a11fb70a63fbc7b0d1ec67d79835f	Its existence was confirmed in six additional @DISEASE$ patients, in five out of seven controls, and in four different cell lines (fibroblast, muscle, hepatoma and myelogenous @PHENOTYPICFEATURE$).	false
+4ff8379b4f7f71a91d83e30382614a1ade8d1479	Erythropoietic proteins (@DISEASE$) offer an effective treatment of cancer @PHENOTYPICFEATURE$ and ameliorate QoL, although their use requires the correct targeting of hemoglobin increase to avoid thromboembolic complications.	false
+82f0b4552117158acbe70ddb09796d10ff1e837c	Tinnitus suppression by electrical promontory stimulation (@DISEASE$) in patients with @PHENOTYPICFEATURE$.	false
+b2be5180dc4133ae8f26cce5a5caa4d5bc97b1cb	This case shows that juvenile-onset DM can occur simultaneously with @DISEASE$ and result in growth retardation, acute @PHENOTYPICFEATURE$ formation and a high cortisol concentration.	false
+8c4287c458e1c9b2906e487bd41bab4cda883e06	By immunohistochemical studies, the @PHENOTYPICFEATURE$ cells were positive for histiocytic markers (CD68 and CD163) and S100, supporting a diagnosis of @DISEASE$ with dendritic cell differentiation.	false
+2f7d560dec08e5a28aa4483cd8a6e1d2aaf7f350	More invasive diagnostic imaging studies are necessary only if the patient has symptoms or signs suggestive of urethral obstruction, @PHENOTYPICFEATURE$, @DISEASE$, or ectopic ureter.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+45ecf35ddb638cc23e95d8ebd4e6a80b8fb19afc	The objective of this study was to investigate the prevalence of @PHENOTYPICFEATURE$ in individuals with @DISEASE$.	false
+e1571f67623b01f93345b6660c86118c95e01c4b	Using a series of multivariate models that controlled for the variables of age, sex, and payer source, as well as disease, disorders, and ophthalmology procedures, we found that the existence of @PHENOTYPICFEATURE$ added 2.4 days to the ALOS (P<.001), while eye pathology combined with a secondary diagnosis of visual impairment @DISEASE$ 1.8 days to the ALOS (P<.001).	false
+c2ca86c81e61a055fb9979783f453b4f477cc966	Using a series of multivariate models that controlled for the variables of age, sex, and payer source, as well as disease, disorders, and ophthalmology procedures, we found that the existence of visual impairment added 2.4 days to the ALOS (P<.001), while eye pathology combined with a secondary diagnosis of @PHENOTYPICFEATURE$ @DISEASE$ 1.8 days to the ALOS (P<.001).	false
+342f28f906a06b3630f867e6c0f015efbf484d58	Assessment-of-Dominant-Damage (@DISEASE$) experiments explored induction by proven specific-locus mutagens of dominant mutations that cause skeletal anomalies, @PHENOTYPICFEATURE$, and stunted growth in offspring of mutagenized male mice.	false
+41cc77f6d89fa8b0c35a912bb9096c1a79175660	Reactive Hemophagocytic Lymphohistiocytosis-Associated @DISEASE$ After a Staphylococcus epidermidis @PHENOTYPICFEATURE$: The First Case Report.	false
+50851d05928672c44702577bd3f4ff117010a37b	Sudden bilateral @PHENOTYPICFEATURE$ from hyperleukocytosis in @DISEASE$.	false
+a0b610a9f88a65f5e83f3e0d8b350ef49e4b80ab	Aetiopathogenetic mechanisms, clinical and radiological aspects and therapeutic options for @DISEASE$ with @PHENOTYPICFEATURE$ and vertigo were discussed reviewing the literature.	false
+59356729405ac818c3118053b690c71b6c74f4b6	[@DISEASE$ complicated with cerebellar hemorrhage and acute @PHENOTYPICFEATURE$ successfully treated with imatinib and intensive supportive care].	false
+9d24ee8c5e717330a2a05bdda59c30aa968c5d7b	The objective was to describe a unique case of sudden bilateral hearing loss, @PHENOTYPICFEATURE$, and vertigo presenting as the first symptoms of @DISEASE$ (CML).	false
+b552568e48403428c296b15fd6211ebb822847e0	Longitudinal @PHENOTYPICFEATURE$ in a prepuberal girl with @DISEASE$ on long-term treatment with imatinib.	false
+b1a28ec56fb8706c0953577dd149a234118231af	This case highlights permanent @PHENOTYPICFEATURE$ as a hemorrhagic complication secondary to @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+a20c1f6527344f31f5c2c2cdaed018d696e696cc	[Sudden @PHENOTYPICFEATURE$ as the initial manifestation of @DISEASE$: case report].	false
+328c693707eeb6082fabc241211992af1a10544b	We report a seven-year-old identical twin with @DISEASE$ who developed significant @PHENOTYPICFEATURE$, as compared to her twin, during five years of TKI therapy.	false
+645a44833c505413a47ea7023c6943ad9be4a58f	Sudden-onset bilateral @PHENOTYPICFEATURE$ as a clinical manifestation of hyperleukocytosis in @DISEASE$ (CML) is a rare occurrence.	false
+2cb0f92c4d25f13fadb743f09ed17bbc8e4aa19d	[Ocular @PHENOTYPICFEATURE$ in the @DISEASE$].	false
+8d45837c44a1ecfa44891f76638d12b966001b4e	We report on a 16-year-old female originally diagnosed with @DISEASE$ due to features such as @PHENOTYPICFEATURE$, several musculoskeletal anomalies, and atrial septal defect in addition to hypoplasia of the inferior vermis with normal-sized cerebellum and absence of the septum pellucidum.	false
+d06b79cbe25a7ee95c5c157ca1511f7665be1635	One patient with Krabbe disease and three patients with adrenoleukodystrophy/adrenomyeloneuropathy presented with pure @PHENOTYPICFEATURE$ of the lower limbs, whilst one patient each with Krabbe disease, @DISEASE$ and adrenoleukodystrophy/adrenomyeloneuropathy showed additional complicating symptoms.	false
+d9d39b5a78cfa87cb306186b659bf44e7eb05ee7	@DISEASE$ (MLD) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+e05fa9d8ab1361b2a2c0f134b5f948bf7c83188b	Metachromatic leukodystrophy (@DISEASE$) is an inherited demyelinating disease that causes progressive neurologic deterioration, leading to severe motor @PHENOTYPICFEATURE$, developmental regression, seizures, blindness, deafness, and death.	false
+b1088026a925672ac1e28ce17c8e34d6eb577543	One of the two un-transplanted controls, 15 years after @DISEASE$ diagnosis, has relentlessly progressed to full dependency with epilepsy, @PHENOTYPICFEATURE$, dystonic movements, dysphagia and recurrent respiratory problems.	false
+693acf7ea1bf53c60722ab080f3428aba612fe60	We report on two patients with @PHENOTYPICFEATURE$, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA) and succumbed to metachromatic leukodystrophy (@DISEASE$).	false
+dacc40a45d87fbe3cc02265cbbcee5b100613cd4	We report on two patients with @PHENOTYPICFEATURE$, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA) and succumbed to @DISEASE$ (MLD).	false
+e26f830846ce08240220bee2d59b2d187ed41f8a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+c33be10f4675c8cd947f55dadf79fffde78ac22a	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d6caf862f87afb4036ded1011f1e9a1891cb53d9	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; @DISEASE$: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+74d0cb5230c2012b939a7adf3364ed51d851d87f	4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg @PHENOTYPICFEATURE$; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: @DISEASE$; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+d294f58578f40666a8d9b6d369b66a2b7606270b	Among studies on diseases with @PHENOTYPICFEATURE$, are determinations of arylsulphatase A in cultured amniotic fluid cells and in amniotic fluid as measures of prenatal diagnosis of @DISEASE$, reports on screening disorders of tyrosine metabolism and the occurrence of positive dye test in blind children and patients with physical and mental handicaps.	false
+3f69d82e2e47b5f38c9f6322d95f160d66c739d0	In both experiments children with autism were matched for non-verbal and verbal ability with a group of children with moderate (non-specific) @PHENOTYPICFEATURE$ (@DISEASE$) and a group of typically developing children respectively.	false
+d89af2f4b5b8c3c58ed33838f965e9d297c27778	Mathematical learning disabilities (@DISEASE$) have been reported for elementary school age girls with fragile X syndrome who do not have @PHENOTYPICFEATURE$.	false
+efe68d51e1f2c6a3c7d9a35e8a283654f4e7c706	Further study is needed to determine if a connection between @DISEASE$ and @PHENOTYPICFEATURE$ does exist, and if so, whether this relationship may impact earlier the detection and treatment of disease.	false
+b30517fcd766696b026ddefa1413ec579c8f4650	Fifty-two eyes with @DISEASE$ and visually significant @PHENOTYPICFEATURE$ underwent torsional (n = 26) or longitudinal (n = 26) phacoemulsification.	false
+dcbfd74b1caa4c24f615314909fd4133ce99822e	Patient or Study Population: Between April 2013 and December 2016, 140 @DISEASE$ eyes with @PHENOTYPICFEATURE$ of all densities were included.	false
+b95b38f93116c677877992ba0a8c25764a96240c	@PHENOTYPICFEATURE$ ulcer of the oral mucosa (EUOM), also known as traumatic eosinophilic granuloma or Rida-@DISEASE$ disease, is an uncommon, benign and self-limited lesion of the oral mucous membrane.	false
+ab071a5b7d6c38da55bec06547c0caae83ec37fa	A staged or combined approach can be used efficiently in the management of patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1e5d9f5380d797107a2e68924b689dec012d77aa	Patients with @PHENOTYPICFEATURE$ and @DISEASE$ underwent combined or staged procedures.	false
+01f45d4614baed91a32479de9204bb9a65407cea	@PHENOTYPICFEATURE$ ulcer of the oral mucosa (EUOM), also known as traumatic ulcerative granuloma with stromal eosinophilia or Riga-@DISEASE$ disease, is an uncommon benign self-limited lesion poorly described in the dermatological literature.	false
+ac55f9b80340fe636d90bdc9da57a461f73eab46	In this retrospective case series, patients with @DISEASE$ and visually significant @PHENOTYPICFEATURE$ underwent phacoemulsification in an academic cornea practice in Boston, MA.	false
+a10038a06bae7513e71fa0c4d63f1ebc8ff24944	Simultaneous @PHENOTYPICFEATURE$ surgery was performed in 37 patients with ALI and 13 with @DISEASE$.	false
+f09d2d7b87c073927249179952542566210250b5	A 58-year-old male patient presented with bilateral visual impairment owing to @DISEASE$ and visually significant @PHENOTYPICFEATURE$.	false
+d8c3bc5e0de51d3bac1977b3b79ae5cc657d5646	The pathological diagnoses of the @PHENOTYPICFEATURE$ included astrocytic tumor, @DISEASE$, cavernous malformation, and hemangioblastoma.	false
+aa2f58f4dc7fe1fade2fba7d2757ffee7d341878	The most common types of spinal @PHENOTYPICFEATURE$ were @DISEASE$ (19.3%), neurilemmomas (16.7%) and astrocytomas (14.9%).	false
+99a51a52576de43d60c5e6ed614ff83d833aee13	Histological and molecular features facilitate @PHENOTYPICFEATURE$ grading and prognostic predictions for @DISEASE$ in Chinese patients.	false
+667ea6bc350a4de3d0187c1bc646ab2617c710fd	To investigate the molecular pathogenesis of these @PHENOTYPICFEATURE$ and validate the molecular classification of @DISEASE$, we conducted thorough molecular analyses of 113 locally diagnosed ependymal tumors from 107 patients in the Japan Pediatric Molecular Neuro-Oncology Group.	false
+9171ba2cd26a254dad2be8f5e06b7296748d9cf5	To investigate the molecular pathogenesis of these @PHENOTYPICFEATURE$ and validate the molecular classification of ependymal tumors, we conducted thorough molecular analyses of 113 locally diagnosed @DISEASE$ from 107 patients in the Japan Pediatric Molecular Neuro-Oncology Group.	false
+9acd2f7bf59cec5075f9194d039c4d62901ce51f	Eighteen patients had @PHENOTYPICFEATURE$ that were reclassified as @DISEASE$ at MDACC.	false
+f85df81a6bc08a79738d3057c481865f3ca59eec	Spinal @DISEASE$ form a histologically and molecularly heterogeneous group of @PHENOTYPICFEATURE$ with generally good prognosis.	false
+90b79c0ea9dd9c1855972dd60dbc37867d9d0223	The result of immunostaining of ependymomas was compared with 63 nonependymal @PHENOTYPICFEATURE$ that histologically resemble @DISEASE$.	false
+60100e29d36a5f3645cd758225d1cf67b5ab3805	Subependymomas: clinicopathologic study of 14 @PHENOTYPICFEATURE$, including comparative MIB-1 immunohistochemical analysis with other @DISEASE$.	false
+4d5647f8459dae1486c498ff768005a5585746e4	Intracranial subependymomas are rare, benign @PHENOTYPICFEATURE$ (WHO grade I) occupying a special position compared to the other @DISEASE$.	false
+8f4cfebab6e421d0495bf66cd602989bf1bd873f	Diffuse gliomas and @DISEASE$ are the most common intramedullary @PHENOTYPICFEATURE$.	false
+9d02a8f0b3953fc2283d127a1ec8b132b8a30df6	Malignant lesions include primary bone tumours, Ewing sarcoma, plasmacytoma, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+23f54e63e00a2e92b47062c86b7358b8f1cc5fdf	@DISEASE$ and @PHENOTYPICFEATURE$: a clinical review.	false
+fd5f151a44de9064022d01c75008feceda376f91	SAM often had complications such as abscess, @DISEASE$, @PHENOTYPICFEATURE$, etc.	false
+23676b56fcdbe5c92beec462436e87c3ba91e18b	Cerebral infarcts in HIV-infected patients are not common in the absence of cerebral non-@PHENOTYPICFEATURE$ infection, @DISEASE$, or embolic sources.	false
+cf4ead206787176685b9c819de6105bdd3a461fd	Pathologies were meningioma (8), esthesioneuroblastoma, @DISEASE$, @PHENOTYPICFEATURE$, Ewing's sarcoma, and squamous cell carcinoma.	false
+ea98e011713cca129e96fa3b4ca20855d5145549	None of the patients had evidence of malignant or @DISEASE$ disease and only 3 had @PHENOTYPICFEATURE$ on the foot.	false
+9a7781b716b9b706081fbb1fb9049f250d36705f	We show a more pronounced defect in NK activating molecule when HIV infection is associated with lymphoma than when only one condition (@PHENOTYPICFEATURE$ positivity or @DISEASE$) is present.	false
+7bb06bb275681424666cf1ef3df357e63a3ddcd6	We show a more pronounced defect in NK activating molecule when HIV infection is associated with @DISEASE$ than when only one condition (@PHENOTYPICFEATURE$ positivity or lymphoma) is present.	false
+44059e1b450182f615615da09c4fc48b47f5677b	@DISEASE$ Maxilla mimicking orbital @PHENOTYPICFEATURE$; case report and review of Literature.	false
+ebc17a388f6849fcafd71c45e10c4c6c20fc76c4	@PHENOTYPICFEATURE$ simulating @DISEASE$.	false
+15d7ff65b0b73a13cd8626df60f3dc1d7435b561	The 4 pathologies of the cardiac tumors were lipoma 2, fibroma 2, @PHENOTYPICFEATURE$ 1, and @DISEASE$ 1. Intraoperative epicardial mapping using CARTO was performed in 5 patients(80%).	false
+b0bcd957835703ae2e42f3bc03955e9bffc10eda	We report the case of a young woman with @DISEASE$ who presented with @PHENOTYPICFEATURE$ and congestive heart failure.	false
+250fb0346f1f0856ecbbd8bf5d771092b63f3551	A 39-year-old woman receiving hormone replacement therapy for hypothyroidism diagnosed 13 years earlier (@DISEASE$) developed metabolic syndrome, which combining obesity, type 2 diabetes, hypertension and mixed @PHENOTYPICFEATURE$.	false
+dbf42f2bd7184f8b87603c8a3becdab52646e4a8	@DISEASE$ is a distinct clinical entity characterized by diarrhea, failure to thrive, hypoproteinemia, and @PHENOTYPICFEATURE$.	false
+4c1c2088ac9f781575f0122a4595d6764fee12d6	The haemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a devastating disease.	false
+95f64e3aef3cffc096f69d999f28202cb4b22c4d	The hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a devastating disease that affects young children.	false
+932655ff23a96e22af0e83e3501234eae20cf4d1	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a type of acute encephalopathy mainly seen in infants.	false
+9202f7e3f65762b9396009007b82e6082ab9d485	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a devastating symptom complex that affects previously healthy infants and is associated with significant mortality and neurologic morbidity.	false
+1b13b59f47aa3b7a4c5486f95b0932316ee05e6e	[Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$)].	false
+06f6e3a12d626baf35bd13c8771a87b4ff50d1b5	Haemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a devastating disorder affecting infants.	false
+e54030856836fff5428753a359c1aa091a2e5974	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is a sudden-onset symptom complex occurring in previously healthy infants and children.	false
+ad2d41cb0adc676b8609df73929d3c4c06c8f2b7	A case presentation of hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$).	false
+d4b11fd09daf164c4d74eae358db62687c7398b2	A retrospective study was performed for all patients diagnosed with haemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) over an 11 year period (1984-94).	false
+9b5489f6ca8d205c1367fd549304bcc878281d27	Hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) affects children under 1 year of age and is characterized by seizures, shock and certain laboratory abnormalities, including coagulation abnormalities.	false
+51a01c088d58cb1144bdcef8f33e3dc878011efc	@DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, skeletal anomalies and developmental delay: a new syndrome.	false
+a93fe7a06d21206fb692038c68df046fcbfb3035	@DISEASE$, @PHENOTYPICFEATURE$, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.	false
+de2907661e405f1a20ebecd1f5a3d7588824ed64	We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, @PHENOTYPICFEATURE$, @DISEASE$ and severe vesicoureteral reflux.	false
+99f7a57c1b00dc28649f87d730f957cc78ffe476	Rapidly progressive endomyocardial fibrosis and @PHENOTYPICFEATURE$ in a 17-year-old female with @DISEASE$.	false
+94beba70de1a0d8efd5f6df8ebe8c5211506c481	Acute right @PHENOTYPICFEATURE$ and achalasia-like syndrome in a patient with @DISEASE$ and primary biliary cirrhosis.	false
+3344e02c28c2d621c9c50eac6afb4a28ddd2c937	We report a case of a 63-year-old woman who developed acute right @PHENOTYPICFEATURE$ and an achalasia-like syndrome with @DISEASE$ (lcSSc) and primary biliary cirrhosis.	false
+d5748ad367d15c7d989cb7746856c09d9ce899c4	Gastrointestinal involvement, pulmonary arterial hypertension, and @PHENOTYPICFEATURE$ were similar in both groups, and there has been no difference in survival between @DISEASE$ patients with and without ACA.	false
+1bb871dfacfabafef66be11d65958b52286fcca8	Diseases coexisting with @DISEASE$ were Sj?gren's syndrome, hyperglobulinaemic purpura, autoimmune liver and thyroid disease, diffuse pulmonary fibrosis, and a @PHENOTYPICFEATURE$.	false
+9f023150f7e47aad3a0d1057765bc74cad5fb686	The presenting symptoms included dry eyes, dry mouth, and arthritis/arthralgia. Extra-glandular manifestations were glomerulonephritis, vasculitis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3a6315c94219dd048fca0dce148078dc0d79f80d	In addition to its well-established effects on cardiac excitability, hyperkalemia could also contribute to @PHENOTYPICFEATURE$ and cause @DISEASE$.	false
+8603588b52211d5e914908f9ed194dbdb5547156	Sj?gren's syndrome is a systemic autoimmune disease which is characterized by xerosis, and multiple organs can be affected, causing interstitial lung disease, @DISEASE$, blood system involvement, @PHENOTYPICFEATURE$, and liver damage, but cardiac involvement is rare.	false
+f035f707dfe07d4e27b0f812703ef36f08dcc88c	[A case of Sj?gren's syndrome accompanied by periodic paralysis, pancreatitis, @DISEASE$, @PHENOTYPICFEATURE$ and renal calcification].	false
+23755f0c325d916720bcbaf7ee4c6b85be760cd6	Abnormalities in pituitary function have been described in major depressive disorder (@DISEASE$) and may reflect @PHENOTYPICFEATURE$.	false
+d945078d21545b157168ba3df6fe317cdacd7a33	This review will highlight the role of inflammation in the pathophysiology of psychiatric disorders, such as @DISEASE$, BD, schizophrenia, and @PHENOTYPICFEATURE$.	false
+0df54bf2c44151a7ab09c02805c8f096328ff379	Psychiatrists should be mindful that onset of @DISEASE$, GAD, and panic disorder after age 45 might signal a neurodegenerative @PHENOTYPICFEATURE$ such as PD.	false
+ba81295ea249f13a36cd6d1d966d3f55312d29c3	Subjects were 21- to 45-year-old premenopausal women with @DISEASE$ (N = 70; age: 35.4 +/- 6.6; mean +/- SD) and healthy matched controls (N = 36; age 35.4 +/- 6.4) participating in a study of bone turnover, the P.O.W.E.R. (Premenopausal, Osteopenia/@PHENOTYPICFEATURE$, Women, Alendronate, Depression) Study.	false
+bc9b7465ccbef666d60d006d38ac78236dba6e24	@PHENOTYPICFEATURE$ and Cognitive Impairment Among U.S. Veterans With a History of @DISEASE$ or PTSD: A Retrospective Cohort Study Based on Sex and Race.	false
+a937fd1b62b3b451d7bb383ae91d6b7e5b98875e	We applied our approach to real GWAS data sets of five psychiatric disorders, including attention deficiency/@PHENOTYPICFEATURE$ disorder (ADHD), autism spectrum disorder (AUT), bipolar disorder (BD), schizophrenia (SCZ) and major depressive disorder (@DISEASE$).	false
+73fb14660a0eb4ab86d88a483084cc0e60e41f6f	The authors conducted an open clinical trial of fluoxetine among 29 patients (mean age = 89 years) with major depressive disorder ([@DISEASE$] 62%), major depression accompanying Alzheimer's disease (17%), vascular @PHENOTYPICFEATURE$ (14%), and stroke (7%).	false
+b5bf3eba52a3a6f174c78ceae482a5d3afd7d35b	Tardive dyskinesia (TD) is a common but serious hyperkinetic @PHENOTYPICFEATURE$ and side effect of antipsychotic medications used to treat bipolar disorder (BD), major depressive disorder (@DISEASE$), and schizophrenia (SZ).	false
+c4b29547c7e6ec5a0afa4928c0017d017922c5d2	Systemic factors linked to @DISEASE$, including vascular dysfunction, atherosclerosis, obesity and diabetes, together with associated @PHENOTYPICFEATURE$, all elevate CHD risk.	false
+71612e8c1ed14efd9de2ce1b64cc832b2e34d218	We collected blood at 8:00 am and applied skin sweat patches for 24 hours in 21- to 45-year-old premenopausal women (n = 19) with @DISEASE$ (17/19 in remission) and age-matched healthy controls (n = 17) participating in the POWER (Premenopausal, Osteopenia/@PHENOTYPICFEATURE$, Women, Alendronate, Depression) Study.	false
+3ba79dfcdf00c0959dfe298313d50123e7fefc74	A 69-year-old man with @DISEASE$ presented with a 6 month history of gradually blurring vision resulting from early lens opacities that 1 month later had @PHENOTYPICFEATURE$ to hand movement in both eyes.	false
+96433f3d241197a0599f81df3934797ce21dd2a9	[Association of early-onset @DISEASE$ and @PHENOTYPICFEATURE$.	false
+172f7069f54f6e7184d2403e2a0c150d73a4b1d3	We present four cases with @DISEASE$, @PHENOTYPICFEATURE$ and severe developmental delay.	false
+45ede77cf421fe45c33e208394b6a56c867832e7	A few days later, additional clinical findings, such as pretibial and @PHENOTYPICFEATURE$, were diagnosed as @DISEASE$.	false
+3adf17ad2654c4a0d82774025f5e0272c1148e04	A 22-month-old girl with @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+ed10be606d249388a06c34b95f3af071ede9ed4a	Pulmonary and @PHENOTYPICFEATURE$ caused by Nocardia farcinica in a patient with @DISEASE$: A case report.	false
+56926cf37ad6fa49ca284ab47daa74f8bd96ff88	Mutations in KEOPS-complex genes cause @DISEASE$ with primary @PHENOTYPICFEATURE$.	false
+d3b3119ce77c6d67df9874c8473db0124fc49ee1	Management of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5fd001d2ab3dd7f4626bd00d253e9fa8a77fc1ff	@PHENOTYPICFEATURE$ formation in the @DISEASE$.	false
+5e2db58791bf8c1dda6e191e64690566a62f5181	Early onset @DISEASE$ with dysmorphic facies and @PHENOTYPICFEATURE$.	false
+ea8e75dbd5016d4d6578a9694a5bee8a88e3afd9	[Treatment of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+09eb06c5adf7a5d7f7145ff161a68eee9a44245f	The syndrome is characterized by short stature; a broad, prominent forehead, @PHENOTYPICFEATURE$, @DISEASE$, a broad, short nose with anteverted nostrils, a long, broad upper lip, low-set, abnormally shaped and posteriorly rotated ears; simian palmar creases; brachyclinodactyly; short fingers; ligamentous laxity allowing for hyperextensibility of the fingers, genu recurvatum, flat feet; and an anomalous penoscrotal configuration resulting in "saddle" deformity with scrotal folds incircling the base of the penis.	false
+227d6abf602569d0e7f4685fe61b6ea7f748d4eb	The same chromosomal rearrangement was subsequently found in the father, who was affected with @DISEASE$ and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and @PHENOTYPICFEATURE$.	false
+7fa7bc929767b49a9fceee809a0006a25257a7a8	Peculiar facies is due to blepharophimosis, @DISEASE$, @PHENOTYPICFEATURE$ and low-set and malformed ears.	false
+fa0f8b959763daa9f16d79ac606a776f505ef657	The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, @DISEASE$, sensorineural hearing loss, @PHENOTYPICFEATURE$, developmental delay, and renal dysfunction.	false
+17511e9aba77d8881650e441e8f7e22b60b67b96	The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR + @PHENOTYPICFEATURE$ (WAGRO) as well as with other reported patients with aniridia and @DISEASE$.	false
+56ae2d897b780c19f740f42bfe72edbf80135fd2	In 12 patients with @DISEASE$, including five previously shown to have familial type I @PHENOTYPICFEATURE$, protamine-inactivated lipase activity was markedly reduced, whereas protamine-resistant lipase was below normal in only 1.	false
+5237fc88b4888aa751fc6865cbeb82bf2f455d2b	This entity includes familial lipoprotein lipase (LPL) deficiency, familial apolipoprotein C-II deficiency, primary type V @PHENOTYPICFEATURE$, and idiopathic @DISEASE$. Idiopathic hyperchylomicronemia is caused by an LPL inhibitor or autoantibody against LPL.	false
+f6584286abdcba28c0287040f9d29211ecdfb98b	This entity includes familial lipoprotein lipase (LPL) deficiency, familial apolipoprotein C-II deficiency, primary type V @PHENOTYPICFEATURE$, and idiopathic hyperchylomicronemia. Idiopathic @DISEASE$ is caused by an LPL inhibitor or autoantibody against LPL.	false
+b59ae97518f84338e276fb936308674bf6685b6f	A 15-year-old male of Puerto Rico ancestry with history of @DISEASE$, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without @PHENOTYPICFEATURE$.	false
+66a743bac96fd7dd46a0fadc560cd191c0d277ad	At 6?years of age, he was readmitted to our department because of persistent vomiting and @PHENOTYPICFEATURE$, and @DISEASE$ was diagnosed again.	false
+95cad6fc4ce88988d9f5be09abc0be961f1c8c8a	Remarkably, knockdown of @DISEASE$ genes in zebrafish causes glomerular injury with @PHENOTYPICFEATURE$, proteinuria and structural changes of the glomerular filtration barrier.	false
+90197f4abed02fe96bb5fa9cd59c6bd0c3cc7b37	Taken together, our findings indicate that stress is a most likely trigger of @PHENOTYPICFEATURE$ in broilers, whereas the pathological changes seen in the myocardium and in the @DISEASE$ in fast growing broilers provide a very conducive milieu for sustained ventricular arrhythmia.	false
+3c517328ba649dae587480560de364b19592158a	It describes a clinical case of @DISEASE$ in a 63-year-old female patient with adult-onset Still's disease and high fever accompanied by neutrophil leukocytosis and a drastic left leukocyte count shift, high procalcitonin levels, hepatosplenomegaly, @PHENOTYPICFEATURE$ syndrome, and progressive multiple organ dysfunction with the development of disseminated intravascular coagulation and adult respiratory distress syndrome.	false
+9c760b9a00391869d120443520152ea5a5a70115	No significant relationship was found between @DISEASE$ and splenomegaly, ascites, @PHENOTYPICFEATURE$, jaundice, oliguria, and collateral veins.	false
+6edc26839b19c13d00830a98a49519eb96b20eef	Six out of 120 patients lost their grafts throughout the study period including one death because of suicide, one because of cytomegalovirus disease and @DISEASE$, one due to posttransplant lymphoproliferative disease and two to a @PHENOTYPICFEATURE$.	false
+c880065f462afafe178d73c68ec31e63813b71b6	Pulmonary histopathological features were similar in most of the fatal @DISEASE$ cases (40/44) and consisted of an interstitial pneumonitis with a variable mononuclear cell infiltrate, @PHENOTYPICFEATURE$, and focal hyaline membranes.	false
+24bb96992e6da1f9c323fe5ac73c6ada939c1ee8	The following case illustrates the rapid development of severe @DISEASE$ during chronic active EBV infection in a 73 year old woman who presented with lower extremity pain and @PHENOTYPICFEATURE$, splenomegaly and abnormal liver enzymes.	false
+021b284bffea2a14d428ec8953afebe01ab10496	Laboratory and clinical Minor Criteria include elevated C-reactive protein or erythrocyte sedimentation rate, anemia, thrombocytopenia or thrombocytosis, hypoalbuminemia, renal dysfunction or proteinuria, polyclonal hypergammaglobulinemia, constitutional symptoms, hepatosplenomegaly, effusions or @PHENOTYPICFEATURE$, eruptive cherry hemangiomatosis or violaceous papules, and @DISEASE$.	false
+4dee8fb9dd82a839e8c96210d5896eb9e02a7532	@PHENOTYPICFEATURE$ occurred more frequently in the ATTHAART group (19.3%) than other groups (p?=?0.001) while @DISEASE$ (14.7%; p?<?0.001), gynaecomastia (18.2%; p?<?0.001), and lipodystrophy (4.5%; p?=?0.012) occurred more frequently in the HAART group.	false
+1373a865aec63cd09db33a182da5cd67712a0d38	It included, in order of frequency, @PHENOTYPICFEATURE$/angioedema, fixed eruptions, exanthemas, erythema multiforme and @DISEASE$.	false
+bc3f0c76f45d7116d5fdfaa7cb3078765da4d4ce	In particular, we focused on five disparate organ toxicities, @PHENOTYPICFEATURE$ (PN), rhabdomyolysis (RM), @DISEASE$/toxic epidermal necrosis (SJS/TEN), lung injury (LI), and heart contraction-related cardiotoxicity (CT), and identified biological commonalities between and among the toxicities in terms of pharmacological targets and nearest neighbors (indirect effects) using the hyper-geometric test and a distance metric of Spearman correlation.	false
+3d520500c8963afaaa8e69157666067838505c1d	A 49-year-old woman suffered a severe case of @DISEASE$ when she was 12 years old, leaving her with bilateral corneal opacification and tympanic membrane perforations with extensive @PHENOTYPICFEATURE$.	false
+db33ed88c5efbb16053b0f13dd23a90ae972ed7c	Side effects leading to discontinuation were: @DISEASE$ (n=2, 1.4%); fatigue and @PHENOTYPICFEATURE$ (n=2, 1.4%); dizziness, nausea, and vomiting with normal laboratory tests (n=2, 1.4%); dizziness, nausea, and vomiting with serum Na levels <130 mEq/L (n=5, 3.4%); and elevated serum gamma-glutamyl transferase levels (GGT>200mg/dL) (n=1, 0.7%).	false
+cb911d0a011191669801d0c24f7e8a34e14614ea	The patient is a 62-year-old Indian man with known @DISEASE$ since 1972 secondary to tetracycline therapy, with bilateral @PHENOTYPICFEATURE$ and corneal blindness.	false
+16f8438d30d4479d56e3728e8e863cd8d5e43143	During the last decade, many dermatological adverse events of targeted therapy have been reported, including xerosis, skin fissures, pruritus, photosensitivity, @PHENOTYPICFEATURE$, hair and nail changes, hand-foot skin reaction, squamoproliferative lesions, @DISEASE$, and toxic epidermal necrolysis.	false
+fdacea4eef7165639efec823c8f1765202cd7a21	[@DISEASE$ associated with marked @PHENOTYPICFEATURE$ and hypercapnia].	false
+9b8ea8eb1b3d43bd7caba62ec12bd5458e9aa804	In addition to the typical @DISEASE$ and the bilateral thumb hypoplasia, he presented a severe neurological syndrome with spastic diplegia, hemiparesis of the left arm, and @PHENOTYPICFEATURE$ on CT-scan.	false
+10fa75b017462d46d74173f6beabca969f63ed0d	@DISEASE$ renal tumors without bone metastases should be considered to be a heterogeneous @PHENOTYPICFEATURE$ entity.	false
+5e4983e51ba8c7918c6b95a57264c32e45413b7e	Four cell lines were obtained in vivo and in vitro from an @DISEASE$ renal tumor, which is considered to be a new @PHENOTYPICFEATURE$ entity.	false
+d2c7e97d0dbc2ec9672f68e6ba60397cdaea49a7	The ability of @DISEASE$ @PHENOTYPICFEATURE$ (three rhabdoid renal tumors, one cellular mesoblastic nephroma, and one hepatoblastoma) to produce parathyroid hormone (PTH) was tested using RNA-DNA hybridization.	false
+1c8dedee43a4ad7d369cced806ca9649e842c161	Myelodysplastic syndromes (@DISEASE$) are a varied set of @PHENOTYPICFEATURE$ and a high risk of progression to acute myeloid leukemia (AML).	false
+592be6936693e2330d3aef1d38ac33d818f082e3	Miller-Dieker syndrome (@DISEASE$; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic @PHENOTYPICFEATURE$.	false
+23130321f31f124aef14a9b1339fd9ee2ec22846	@DISEASE$ (MDS; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic @PHENOTYPICFEATURE$.	false
+39aaa990479a4935eccfa6a91fbaa7b065d1797f	The 17p13.3 deletion syndrome (or @DISEASE$, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+f4d672a27a223672b5975eb2acedd72b3c02f31b	Clinically, type I lissencephaly presents as "isolated lissencephaly sequence" or as "@DISEASE$" with characteristic @PHENOTYPICFEATURE$.	false
+9571481aab896a3c68a36bfde982d4f68a4e0d88	@DISEASE$ is characterized for type 1 lissencephaly associated with @PHENOTYPICFEATURE$.	false
+f046987b1f0607d4c81daf32ecb0c9ba61597879	Myelodysplastic syndromes (@DISEASE$) are a heterogeneous group of clonal @PHENOTYPICFEATURE$, and the pathophysiology of these disorders is still unclear.	false
+7568745066e1f1ab9c1169982bcc71c39c2db963	Besides lissencephaly, @DISEASE$ patients exhibit @PHENOTYPICFEATURE$ and frequently additional birth defects, e.g.	false
+a24d5fbbc683d160e55695aabf9374981b6652f6	Clinicians should aggressively evaluate patients with @PHENOTYPICFEATURE$ and @DISEASE$ for infection, especially pneumonia and skin infections.	false
+5525166979c827da36e3d845c666d01f2f10a6be	In both New Zealand males and females, the age-standardised incidence rate of @DISEASE$ was significantly higher (P < 0.05) than most other @PHENOTYPICFEATURE$.	false
+6703b6b6c7b988a85a1ffbbe26c38834d9d792fe	In addition, we describe a cohort of six @DISEASE$ patients with @PHENOTYPICFEATURE$, cough, dyspnea, and pulmonary infiltrates at early time point during azanucleoside treatment.	false
+89ee9ec7b43ca74e28f71d4ac8905714b1976ede	It is a primary, @DISEASE$, which is commonly associated with @PHENOTYPICFEATURE$, diet rich in carbohydrates, decreased physical activity and excessive use of coffee and some drugs.	false
+585350d030ec3f940b8074a04c5e44bcc985ec77	Five patients (5.4%) had nonconfirmed cHCC (n=3 regenerative nodules, n=1 biliary @PHENOTYPICFEATURE$, and n=1 @DISEASE$).	false
+46a00ace8542b281e07862a1e3850ff797118c5a	@DISEASE$ is extremely rare in patients with @PHENOTYPICFEATURE$.	false
+8312d14c423b8ba392a19ad8837ff15b01ea99c3	@DISEASE$ is for the first time reported in association with visual @PHENOTYPICFEATURE$ and surface dysgraphia.	false
+95769a45c988fb1a09fc640275d041159690d0ae	[@DISEASE$ with bile duct adenoma and @PHENOTYPICFEATURE$-like lesion in the bile duct].	false
+8aa5b64bef1f0d7dcd5212fffcf710d3b2a7ab90	Correctable @PHENOTYPICFEATURE$ and @DISEASE$: a case report of a 63-year-old patient.	false
+cd2ce0e66b289f93290a81fc06c3a27e2c1829f0	Cholangiopathies include diseases such as Primary Biliary Cholangitis, Primary Sclerosing Cholangitis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+84415bd11ab9fdb79992d64a859e0e66fa0f041d	The level of obstruction in patients with @DISEASE$ was well documented but the biliary tract of one patient with @PHENOTYPICFEATURE$ was not identified by MRCP.	false
+5eb2526bf3cc501d01f56644ab4aa85799eae32a	Bile Duct @PHENOTYPICFEATURE$ Mimicking Metastatic @DISEASE$.	false
+ec7f6ac6be3c23536066c641aaf380a3fe04a164	Cholangiopathies, which affect extrahepatic bile ducts (EHBDs), include @PHENOTYPICFEATURE$, primary sclerosing cholangitis, and @DISEASE$.	false
+1ce68f4ad0d690fdfad41168c647ebf9fdedd289	@DISEASE$ arising in bile duct adenoma with focal area of bile duct @PHENOTYPICFEATURE$.	false
+e8bec7155c7a12ab5a628f948780efe4cb5e162c	The data provide partial support for the hypothesis of a @PHENOTYPICFEATURE$ neural network in @DISEASE$.	false
+dc7218992a470c943e4a816bcacde3ee6e351c65	Patients with tic-related @DISEASE$ displayed greater @PHENOTYPICFEATURE$ than did tic-free patients.	false
+771657adb0026b4bccb3ea4d94ca28282d4bc19f	These subtle @PHENOTYPICFEATURE$ may implicate a potential subgroup of @DISEASE$ patients with poorer treatment response.	false
+a76fee090bc39233beadba5fc010b3501cf5f288	This could lead to better understanding of the shared pathology between @DISEASE$ and hyperkinetic @PHENOTYPICFEATURE$.	false
+8c54a830879168329e57f5333d7e503053fe51d4	The extent to which @DISEASE$/OC symptoms are correlated with other hyperkinetic @PHENOTYPICFEATURE$ is unclear.	false
+c2ba7cca76230b9fbaf20d6aa2a386a7cd521748	This might reveal similar mechanisms underlying @DISEASE$ and some types of @PHENOTYPICFEATURE$.	false
+264758838387045ea770986d413ecc1de0d2d003	1. Abnormalities in association circuits have been described in Obsessive Compulsive Disorder (@DISEASE$) and may reflect @PHENOTYPICFEATURE$.	false
+dc429056f1b391a9622de00e14dcb77b8269f126	The miscellaneous group consisted of @PHENOTYPICFEATURE$, slow learners, obsessive compulsive disorders (@DISEASE$) and borderline subnormality with psychosis.	false
+a9ed2c29615f813e8e63c0903dd0d581e3c02e26	OCD patients showed increased ADHD and @PHENOTYPICFEATURE$ symptom frequencies, OCD + ADHD patients reporting more autism symptoms (particularly attention switching and social skills problems) than @DISEASE$ - ADHD patients.	false
+0b68b1e46f7be1fcd72e3223edd669aca1f7d80e	@DISEASE$ patients showed increased ADHD and autism symptom frequencies, OCD + ADHD patients reporting more @PHENOTYPICFEATURE$ symptoms (particularly attention switching and social skills problems) than OCD - ADHD patients.	false
+48970b29127f39f9817612ff223d44674863d27e	OCD patients showed increased ADHD and autism symptom frequencies, OCD + ADHD patients reporting more @PHENOTYPICFEATURE$ symptoms (particularly attention switching and social skills problems) than @DISEASE$ - ADHD patients.	false
+05cc906e753f92d4fd0c1ee513dc6d506f98824b	@DISEASE$ patients showed increased ADHD and @PHENOTYPICFEATURE$ symptom frequencies, OCD + ADHD patients reporting more autism symptoms (particularly attention switching and social skills problems) than OCD - ADHD patients.	false
+44241f650ab2f8bd828fb99a18fe3b7a1471edc6	Since that time, the literature has been divided between studies that successfully demonstrate an etiologic relationship between Group A streptococcal (GAS) infections and @PHENOTYPICFEATURE$ obsessive-compulsive disorder (@DISEASE$), and those that fail to find an association.	false
+2858e0bdcaa9d8d6cc5e5fd3798058a84378b2fb	The @PHENOTYPICFEATURE$ cells of systemic mast cell disease (@DISEASE$) and a human mast cell leukemia cell line (HMC-1) were also examined.	false
+1ae188fb0b9f1cc98441c5844609a66210bfd5cd	The observation of 19 malignancies in 17 of 60 patients with @DISEASE$ raised several questions regarding the chronological relationship of onset of SMCD and the malignancies, whether these patients are at increased risk for developing malignancy, and whether the distribution of solid vs hematologic malignancies indicates a relationship between SMCD and a particular @PHENOTYPICFEATURE$.	false
+57e20ef4bea7a8ed47771e51f3d3166a0e97408f	These cases are known @DISEASE$ @PHENOTYPICFEATURE$ or 'double syndromes'.	false
+3b9bf842b793008163da02ba1b010bf228c1e85b	In specimens from patients with @DISEASE$, amyotrophic lateral sclerosis, @PHENOTYPICFEATURE$, and DMRV, numerous clathrin-positive granules were often scattered through the sarcoplasm and seen to a lesser extent in subsarcolemmal regions.	false
+c2b0652d3df83026dd544d014a5fd3bf22a5a45b	To evaluate the long-term effect of @PHENOTYPICFEATURE$ surgery on highly myopic patients with myopic traction maculopathy (MTM) and the risk factors associated with @DISEASE$ progression.	false
+54d9dd2d5a7d9a90d68fd2e5ea04d3d2942dd8ad	Deficiencies in RecQ4 have been linked to human diseases including Rothmund-Thomson, RAPADILINO, and @DISEASE$, all of which are characterized by developmental defects, @PHENOTYPICFEATURE$ propensity, and genetic instability.	false
+66aa607a86ffdd30151394d8e03ca130958ccbd9	DNA sequencing of his @PHENOTYPICFEATURE$ revealed the presence of a @DISEASE$ (TSC1) mutation, so daily everolimus, which inhibits mammalian target of rapamycin, was started.	false
+2cc5635a787290340059347bf816c07ece14c89c	The @DISEASE$ (TSC1)/TSC2 @PHENOTYPICFEATURE$ suppressor complex serves as a repressor of the mTOR pathway, and disruption of TSC1/TSC2 complex function may contribute to tumorigenesis.	false
+d73691e1e1c8f5d5bcf40dfe0ca0f2c2d3833279	A combination of linkage analysis and direct sequencing eliminate several likely candidate genes, including @DISEASE$ and 2 genes (TSC1 and TSC2) and the @PHENOTYPICFEATURE$ suppressor gene TP53.	false
+0df64e8b56f2623d1f7bd43ee333f5c38d4be755	Autopsy documented Dandy-Walker malformation with severe hydrocephalus, aortopulmonary window, secundum atrial septal defect, @DISEASE$, incomplete rotation of the bowel, @PHENOTYPICFEATURE$, uterus didelphys, and musculoskeletal defects.	false
+2cfd94a5d76d9769dc836d791602da47003f9092	In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of @DISEASE$, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of @PHENOTYPICFEATURE$, annular pancreas, and limb reduction defects.	false
+114f689a18f9cf9ae5f81cfb6fd79c1915dddaa2	We report the case of a male fetus with complete agenesis of the trachea and a tracheoesophageal fistula arising from the esophagus that connected through the carina, as well as several abnormalities (congenital cardiac abnormalities, @DISEASE$, vertebral defects, @PHENOTYPICFEATURE$, renal defects, limb defects, and diaphragmatic hernia).	false
+8a8d94f908f68109395ac9c1ba2bcfac2fee5595	A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (@PHENOTYPICFEATURE$), soft tissue tumor of the tongue, liver disease and @DISEASE$.	false
+41bbe4fc0625435baca521420408e9198035faaf	A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, @PHENOTYPICFEATURE$, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and @DISEASE$.	false
+9e6a8bb183ce35a600e3580015acd0090687f19c	Placental @DISEASE$ is a rare placental lesion characterized by stem villous cystic dilation and vesicle formation, placentomegaly, and @PHENOTYPICFEATURE$.	false
+4e189a8e058e6a7cb2742d8fc6042c37757c7a97	A wide range of clinico-radiological findings of congenital @DISEASE$ were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and @PHENOTYPICFEATURE$, intracranial calcifications, ventriculomegaly, brain stem and cerebellar malformations, spinal cord involvement, and joint contractures.	false
+0fe140dccf85b3bdd848e1851e2799afca130bbe	A wide range of clinico-radiological findings of congenital @DISEASE$ were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and corpus callosum abnormalities, intracranial calcifications, ventriculomegaly, brain stem and @PHENOTYPICFEATURE$, spinal cord involvement, and joint contractures.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+24ab6b2d30c539c40524c0f70843160679143b7f	Offspring did not show congenital @DISEASE$ syndrome (e.g., microcephaly, brain calcifications, congenital clubfoot, arthrogryposis, @PHENOTYPICFEATURE$) or other visible birth defects.	false
+b9e8fbadf902aa6100eb43daddcb5689d0619c95	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+71540f28542de6c594131601995a019820447188	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital @DISEASE$ syndrome.	false
+fee45ba30d918368f38006b92fe4f94d7d034eea	As emphasized by the persisting challenges of preventing congenital cytomegalovirus infection and the emergence of severe brain damage associated with congenital @DISEASE$ syndrome, these pathogens remain important causes of cerebral palsy, epilepsy, and @PHENOTYPICFEATURE$.	false
+e044bdd05959d75239c0ed7ef265657631c32726	We report two cases of encephalopathy (one with @PHENOTYPICFEATURE$, one with electroencephalogram changes) in patients with @DISEASE$.	false
+389958d0c75556982c0a8220fafe06ef9fcbc8ca	Epileptic spasms as the presenting @PHENOTYPICFEATURE$ type in a patient with a new "O" of TORCH, congenital @DISEASE$.	false
+e16fa6797e7319484ecc1c4abefe9698922d35a3	Although many of the components of this syndrome, such as cognitive, sensory, and motor disabilities, are shared by other congenital infections, there are 5 features that are rarely seen with other congenital infections or are unique to congenital @DISEASE$: (1) severe microcephaly with partially collapsed skull; (2) thin cerebral cortices with subcortical calcifications; (3) macular scarring and focal pigmentary retinal mottling; (4) congenital contractures; and (5) marked early @PHENOTYPICFEATURE$ and symptoms of extrapyramidal involvement.	false
+da45df59e1d1a10b6e94167d5edd555d73094d35	Prevalence of @DISEASE$ and other @PHENOTYPICFEATURE$ among singleton births, 1988-1997, in Scotland.	false
+870d4bf7cbcecb32b325d21efd1cdb47fee07909	Testicular cancer in association with developmental @PHENOTYPICFEATURE$ and @DISEASE$.	false
+62177e41c9f16a1701da4136db64b2575288e144	@DISEASE$ and left @PHENOTYPICFEATURE$ were present.	false
+aabeb6074d78b2b277f4b6efb66b784c21352eff	@PHENOTYPICFEATURE$; undescended testicle; stenosis of the external urethral meatus; @DISEASE$ and epispadias.	false
+1720a683f971a8ac62709a8caceb97c58a5d8332	@DISEASE$ is a frequent male @PHENOTYPICFEATURE$, potentially related to reduced androgen sensitivity in genital tissues.	false
+85a7c7f73dfbad2bf57f2ad6e4a9545a014df761	@DISEASE$ (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other @PHENOTYPICFEATURE$.	false
+f7bfe702673cd1523555287a183b0b67e91d40bd	Radiologic investigations of his obvious cranial and @PHENOTYPICFEATURE$ revealed @DISEASE$.	false
+3c584edb73c979d88c7ebef4de2c63e7c2ed1a4f	@DISEASE$ (CD) is an autosomal dominant syndrome which is characterized by several skeletal malformations such as non-closed fontanelles, @PHENOTYPICFEATURE$ of the maxilla and mandible and absence of clavicles.	false
+219b81c469bc9356980faceb92913129fe231c89	Animal model: @PHENOTYPICFEATURE$ in mice with @DISEASE$.	false
+8915da57ff3b402a49bdc541f5d98cbbfb05a5b3	Radiological investigations of her cranial and @PHENOTYPICFEATURE$ revealed @DISEASE$.	false
+c360667af17e2061964073be6d39fd1e30cc0514	@PHENOTYPICFEATURE$: @DISEASE$.	false
+72d2be4115709c4fa74ff7672122ccf2262282d6	Heterozygous mice showed specific @PHENOTYPICFEATURE$ that are characteristic of the human heritable skeletal disorder, @DISEASE$ (CCD).	false
+8a4af2ae13726be34ccb110d41fc47115e570ccd	@DISEASE$ (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other @PHENOTYPICFEATURE$.	false
+6330ddfbda031d7ac283f26fe1d67c57d8a2e685	@DISEASE$ (CCD) is an autosomal dominant disease characterized by hypoplasia or aplasia of clavicles, open fontanelles, and other @PHENOTYPICFEATURE$.	false
+5f238c322cef81188980fc01c5c4a1d1aab41bb1	Notwithstanding many studies of molecular, genetics and @PHENOTYPICFEATURE$ of this congenial disorder, there have been very few written reports of cranioplasty involving @DISEASE$.	false
+bcef5d8f097b27da3e6e04f7801ba036bea9f8f0	A 48-year-old Japanese woman presented with metastasizing @DISEASE$ in which both the primary @PHENOTYPICFEATURE$ and metastatic lesions were composed of benign pleomorphic structures.	false
+6051e1edee77834ae1bc53c91fbc0379b81d1bd1	Light-microscopically, this @PHENOTYPICFEATURE$, 15x9mm in size, exhibited almost the same features as those of @DISEASE$ intermingled with chondromyxoid stroma, glandular component, solid growth pattern of myoepithelial components and well-developed cartilage formation, exhibiting a sharp margin.	false
+b9302cdbc22129f00afbe704e86bf3ffc6b4b281	The @PHENOTYPICFEATURE$ were resected subsequently, and postoperative findings led to the diagnosis of @DISEASE$.	false
+e64f6d06f5fdd7eadb4d2525a39537dd242c1f1c	Of this total number of tumors, according to their histopathologic examination, 185 corresponded to @DISEASE$, 24 to Warthin's tumor, 10 to recurrent pleomorphic adenomas (at first operated on elsewhere) and 44 to miscellaneous tumors or tumor-like lesions (simple cyst, lymphoepithelial lesion, branchial cleft cysts, @PHENOTYPICFEATURE$ etc.).	false
+6af69db367b272103bf3a16f53707fff742c972a	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, @DISEASE$ and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+d190722c47c97474c56dca500c773442f63ffcbb	About one third of early or late @DISEASE$ patients had body @PHENOTYPICFEATURE$ more than 10% in half a year and were defined as malnourished.	false
+62421c98d7004a62dcdd124f9cda975bfa575d1c	Selective HDAC inhibitors with potent oral activity against @PHENOTYPICFEATURE$ and @DISEASE$: Design, structure-activity relationship and anti-tumor activity study.	false
+6087b573801c66590d04c5c8a9165b81afe474fe	The model was applied to alternative protocols used in the treatment of three different cancers: locally advanced and metastatic @PHENOTYPICFEATURE$, adjuvant @DISEASE$ and adjuvant breast cancer.	false
+eb32f06400b5bfed9645fd9be292534418ead20c	Univariate analysis of the derivation set showed that age > 55, occult bleed, @PHENOTYPICFEATURE$, iron deficiency, weight loss, and abnormal CT scan were associated with finding @DISEASE$ at colonoscopy in the derivation set, p < 0.05.	false
+13636d81ea5b1fbf89a7c07d8d2b2a654980056f	Univariate analysis of the derivation set showed that age > 55, occult bleed, anemia, iron deficiency, @PHENOTYPICFEATURE$, and abnormal CT scan were associated with finding @DISEASE$ at colonoscopy in the derivation set, p < 0.05.	false
+029e26faa0bf34a249a2eda49165b5b1fe056feb	gender, with @DISEASE$ (13.3%), non-Hodgkin lymphoma (NHL; 8.4%), and @PHENOTYPICFEATURE$ (8.2%) being the most	false
+ae2024e445259ac546d6216b166ced73068f4dbf	Although @DISEASE$ incidence increases with age, younger patients with altered bowel habits, @PHENOTYPICFEATURE$, anemia and anorexia should also be given due medical attention and undergo evaluation promptly.	false
+39094c5efdbce2f718824dca96bd3a91cfe158db	The classic symptoms and signs of @DISEASE$ (change in bowel habits, @PHENOTYPICFEATURE$, melena or a palpable abdominal mass) signify advanced disease.	false
+3eda1241cc850e60f4c44927d97949991d9556de	Early diagnosis is difficult because symptoms of @DISEASE$ (vomiting, constipation, @PHENOTYPICFEATURE$, rectal bleeding, abdominal pain and distension, etc.) can be related to pregnancy.	false
+f82e97c885e0eb3cea9f6752c324bc9ac5a947c3	As other solid tumours like papillary thyroid cancer, @DISEASE$, @PHENOTYPICFEATURE$, and ovarian cancer likewise harbour BRAF mutation, vemurafenib is also tested in these entities.	false
+53a09fb9ff2c28048cbd1e8a9672c400af4e342e	Our findings indicate that elevated expression of microRNA-494 might predict a good overall survival in most cancers, while in @PHENOTYPICFEATURE$ and @DISEASE$, overexpression of microRNA-494 might predict a worse overall survival.	false
+7fd20a527565db78a226eac46de844f83321132e	@DISEASE$ is frequently associated with cardiovascular conditions, namely @PHENOTYPICFEATURE$, coronary disease, ischemic stroke, venous thrombosis.	false
+d95bb4e286367e90feafc08d8aee5053151e2104	These clinical findings could not be explained by classical rickets or osteoporosis, but can be classified as @PHENOTYPICFEATURE$ type B. To our knowledge, such marked limb deformities and brachydactyly have not previously been described in patients with @DISEASE$.	false
+43f84e8dfd500cddafc85d59b7f73c7365c4beed	These clinical findings could not be explained by classical rickets or osteoporosis, but can be classified as brachydactyly type B. To our knowledge, such marked limb deformities and @PHENOTYPICFEATURE$ have not previously been described in patients with @DISEASE$.	false
+0131ea329371a3c4a0bd8e2742fa2ae96e99d7df	@DISEASE$ (AS) is a rare disorder of genetic imprinting which results in intellectual and developmental @PHENOTYPICFEATURE$.	false
+32847bd2509e76cc029d1588fd693189406dcee5	MECP2 mutations have been found in people with various disorders, including neonatal onset encephalopathy, X-linked recessive @PHENOTYPICFEATURE$ (MRX), classic and atypical RTT, autism, and @DISEASE$, as well as mildly affected females and normal carrier females.	false
+bf5fbbacbadb76e5b888d0e833585efc79b03c19	MECP2 mutations have been found in people with various disorders, including neonatal onset @PHENOTYPICFEATURE$, X-linked recessive mental retardation (MRX), classic and atypical RTT, autism, and @DISEASE$, as well as mildly affected females and normal carrier females.	false
+5869372591569e03756cbc070f501d73cba08ef9	Vagal @PHENOTYPICFEATURE$ and anesthesia in @DISEASE$.	false
+77b2ca997d696cf978efd5a027fd7c31a15be5b3	[@DISEASE$: a frequently undiagnosed cause of @PHENOTYPICFEATURE$ and epilepsy.	false
+d5fa7a43127b83f63135fdbb3c742db92dd0e4fe	Prevalence of Prader-Willi and @DISEASE$ among @PHENOTYPICFEATURE$ boys in Brazil.	false
+d0e7e52f8bcf6f692b96da845af63407de9763ed	@DISEASE$ (AS) is a neurodevelopmental disorder characterized by @PHENOTYPICFEATURE$ and impaired speech.	false
+a993b8c25c3fad28c846ecab10160f66b650d907	[@DISEASE$ and severe vagal @PHENOTYPICFEATURE$.	false
+7f895955e50d0025634757fd49f3f68a4966c784	@DISEASE$ (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and @PHENOTYPICFEATURE$, is one of the best examples of human disease in which genetic imprinting plays a role.	false
+35b75ab3072619fb121a1ffbc0558506764facd6	@DISEASE$ (AS), characterized by @PHENOTYPICFEATURE$, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role.	false
+97be47f2e9b49b57af290c860a7601d5a6887590	@DISEASE$ is a neurogenetic disorder characterized by intellectual and developmental @PHENOTYPICFEATURE$.	false
+a0dd43150929f27a40bc8a305c514a813fb83fad	Cyclosporine is known to cause a combination of metabolic side effects including @DISEASE$, hypercalciuria and @PHENOTYPICFEATURE$.	false
+c0c55880d8fcca9ea0bfda81bd8a996a0edf2237	Phase II study of monthly pasireotide LAR (SOM230C) for recurrent or @PHENOTYPICFEATURE$ @DISEASE$.	false
+5dc66c6f4bba1e562ad6c1a549de69d94400f5d0	Brain invasion and the risk for postoperative hemorrhage and @PHENOTYPICFEATURE$ after @DISEASE$ surgery.	false
+78cf138ba22a00524c0cfd61eaafaca1bb471aa6	Pathologies were @DISEASE$ (8), esthesioneuroblastoma, lymphoma, @PHENOTYPICFEATURE$, Ewing's sarcoma, and squamous cell carcinoma.	false
+baae00e4749a3087ecd791b684477ef83a14ac5f	This study provides Class IV evidence that in patients with recurrent or @PHENOTYPICFEATURE$ @DISEASE$, pasireotide LAR does not significantly increase the proportion of patients with PFS at 6 months.	false
+c5b6cb4d4b2231c708da5d84773ca509e0d8e3b6	Twenty dogs and all cats had intracranial neoplasms; of these, 14 were @DISEASE$, and 11 represented a wide variety of brain tumors and @PHENOTYPICFEATURE$.	false
+468b9f5f24c9b138da89787705d871f5d781ce7b	This rare form of @DISEASE$ is a potential source of confusion with other myxoid neoplasms such as metastatic adenocarcinoma or @PHENOTYPICFEATURE$.	false
+ec1962c4b0da8b76711c8ec0505a0762dfbb1127	Chordoid meningioma is an uncommon histopathological variant of @DISEASE$ with a peculiar @PHENOTYPICFEATURE$-like appearance.	false
+4c5a842eca015845d41f663c49dbe8ca59066ed5	Clivus Intraosseous @DISEASE$ Mimicking @PHENOTYPICFEATURE$.	false
+b12a304ab6a05fca120610b398011a8672298bfb	@PHENOTYPICFEATURE$ was clinically assumed in the first case and @DISEASE$ in the second.	false
+b42eaad0ab15314516b6c779a8d4afee92ea7644	@PHENOTYPICFEATURE$ @DISEASE$ in a dog.	false
+3d62f2d978265822b3d461b171f3fdcda9b3cf99	Neurological manifestations in patients with @DISEASE$ are common, whereas @PHENOTYPICFEATURE$ are rarely seen.	false
+9a1b6923e28a585038ddb24ae3a80b26c8cdfa28	Utilizing these models for @DISEASE$ have enabled to show the pathogenicity of aPL in pregnancy loss, neurological and @PHENOTYPICFEATURE$, renal involvement and thrombus formation.	false
+cac9df4115e5278ba6d893fc561724c6f03db72f	@DISEASE$ must be ruled out in any patient of SLE who presents with stroke or any other @PHENOTYPICFEATURE$ regardless of the age at presentation.	false
+8573365a22a7450f120c6074ba98d0bc3db0188e	Although it is a rare manifestation in @DISEASE$, chorea is the most common @PHENOTYPICFEATURE$.	false
+edb6986d809f15af9cef981a7d78f161c116634b	Coexistence of @PHENOTYPICFEATURE$, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (@DISEASE$) type I.	false
+210d1835bc2cc51bf93c6f54b1da96833ce26e3a	Autoimmune polyglandular syndrome Type I (@DISEASE$ I) is a disorder defined by the presence of at least two of the following diseases: Addison's disease, @PHENOTYPICFEATURE$, and chronic mucocutaneous candidiasis.	false
+a42a940e4f3a3e0011373cf966173175e4f355c6	@DISEASE$ hypertrophic cardiomyopathy (AHC) is associated with @PHENOTYPICFEATURE$ such as transient ischemic attack, stroke, limb-girdle muscular dystrophy, or eosinophilic myositis in single cases.	false
+23734091b8cae0ec0a38e661d0e514e65a6024d1	The hyperglycemia, hypolipemia, and @PHENOTYPICFEATURE$ status were controlled with @DISEASE$ therapy.	false
+b2f768c4bdc050c00f05039e001474e408932320	These data demonstrate that the impaired synaptic plasticity in @DISEASE$ deficient mice is associated with @PHENOTYPICFEATURE$ and synaptic function within the hippocampus.	false
+348f21af6507f56790938d27834747a34e33a334	a) if compared with a selected cohort of MPHD patients with both adenohypophysis hypoplasia and pituitary stalk interruption syndrome, the ones with APA show an earlier and more severe picture of @PHENOTYPICFEATURE$; b) mutations in several transcription factors that are known to be essential for the development of Rathke's pouch are not necessarily found in humans with @DISEASE$.	false
+3611b0d4c44bf8cdd0d39993e9ec74f23ef8a267	a) if compared with a selected cohort of MPHD patients with both adenohypophysis hypoplasia and pituitary stalk interruption syndrome, the ones with @DISEASE$ show an earlier and more severe picture of @PHENOTYPICFEATURE$; b) mutations in several transcription factors that are known to be essential for the development of Rathke's pouch are not necessarily found in humans with APA.	false
+64c89a9d8eb0e6d7e2099a9b50ebb3e54d673528	The most common abnormalities that were diagnosed during the first and/or second trimester and that were also observed at 35-37?weeks included ventricular septal defect, @PHENOTYPICFEATURE$, unilateral renal agenesis and/or pelvic kidney, hydronephrosis, duplex kidney, unilateral multicystic kidney, @DISEASE$, ventriculomegaly, cleft lip and palate, polydactyly and abdominal cyst or gastroschisis.	false
+e9f5420d976d381ee5822e58c3c722ba9aafa34b	A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn @DISEASE$ or reduced uptake, can lead to structural @PHENOTYPICFEATURE$ changes, or hair loss, although exact data are often lacking.	false
+eddd0bd09cbdcd959318708883a8a39fccc6e9c5	Among 37 cases with a combined degenerative encephalopathy/myelopathy and a @PHENOTYPICFEATURE$, nine had hereditary spastic paraplegia, six had heredoataxias (three of the Friedreich type), nine had lysosomal storage diseases (five of the Krabbe type), seven had other known inborn metabolic @DISEASE$ and six had biochemically undefined disorders.	false
+275cdb85f40e614a7c8a7f5d804260fc3599aa0d	Tyrosinase-related oculocutaneous @PHENOTYPICFEATURE$ (OCA1), an autosomal recessive inborn @DISEASE$ of pigmentation, is caused by the deficiency of tyrosinase.	false
+d8b9655cd7dda744aef7cea46862fe270c60ef1f	Albinism is a heterogeneous group of conditions having in common a hereditary @DISEASE$ of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of @PHENOTYPICFEATURE$ of eyes, skin, and hair.	false
+06b2a394cb6bdba717a30739ac9c10524d20f9f5	In the present study, using a rat model of recurrent @PHENOTYPICFEATURE$ (FSs), we found an increase in plasma CO, evidence of neuronal damage and apoptosis, an increase in the expression of the endoplasmic reticulum stress (@DISEASE$) marker glucose-regulated protein 78 (GRP78) and C/EBP homologous binding protein (CHOP), and an increase in phosphorylated protein kinase RNA-like endoplasmic reticulum kinase (p-PERK)/eukaryotic translation initiation factor 2 alpha (p-eIF2?) in the hippocampus after 10 FSs.	false
+0a63a1f907cb77b2c5876a7449631f3776d6337a	In neuropaediatrics the paediatrician and epileptolgist must be aware of congenital @DISEASE$ of metabolism as being responsible for epilepsy, especially in cases of drug resistant epilepsy or when accompanied by other systemic features, @PHENOTYPICFEATURE$ or unexplained biochemical alterations.	false
+71c9b88253fad82462d5a00a856ebf0eca669c45	The following outcome measures were extracted: neck disability index (NDI), visual analog scale (VAS) neck, VAS arm, Short Form (SF)-12 mental component summary (@DISEASE$), SF-12 physical component summary (PCS), overall clinical success (OCS), patient satisfaction (PS), device-related adverse event (DRAE), subsequent surgical intervention (SSI), @PHENOTYPICFEATURE$ (ND), and adjacent segment degeneration (ASD).	false
+e9d7cd5867dfc2d1a7990aca967698650793b46c	The two great mimickers for these neoplasms, @PHENOTYPICFEATURE$ and chondrosarcoma, represent difficult diagnostic challenges, especially when @DISEASE$ and CMF occur in unusual locations.	false
+9cbd9091ec73ec23264efd5ded74ec310c231c16	Rats with @PHENOTYPICFEATURE$ (chronic nerve injury model) underwent @DISEASE$ and were evaluated with a nociceptive test.	false
+e05f250dc82a392761f90eb099a9ada6a3be6ba9	@DISEASE$ features marked @PHENOTYPICFEATURE$ that progressively worsens over time.	false
+abcca7f7eca1b6790af3aff1573667cc932ce38c	@DISEASE$ (HSAN III) features disturbed proprioception and a marked @PHENOTYPICFEATURE$.	false
+b172b051077f9a85a570435d818a22c6ba4ae110	These results suggest that poor proprioceptive acuity at the knee joint is a major contributor to the @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+3142e94f2ae500af23cdfe54d60a65490ffae952	NEW & NOTEWORTHY We describe the impaired manual motor performance in patients with @DISEASE$ (Riley-Day syndrome), who exhibit congenital insensitivity to pain, poor proprioception, and marked @PHENOTYPICFEATURE$.	false
+58b7f0c867603cda32066ead69cc9e1235b819d1	Fludrocortisone induced @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cd6458f71856866802cdd0026b6292276f1d1d2f	@DISEASE$ may be complicated by hypertension and less commonly by @PHENOTYPICFEATURE$.	false
+f79690fa1739d1d23a4bcce65c3a177fbf97812f	Regression of @PHENOTYPICFEATURE$ after replacement therapy in @DISEASE$.	false
+f7d4f4f718dc6167005829c4bd84266871ea8724	Patients with untreated @DISEASE$ have @PHENOTYPICFEATURE$ which regress after steroid substitution.	false
+2d25306043503f3d804a454a688e43820138b620	It may be associated with endocrine disorders such as hermaphroditism, Cushing's disease, @DISEASE$ and @PHENOTYPICFEATURE$ of unknown cause.	false
+3432d8f058c6eb92cb35882110d16508dc9f72d1	Liquorice, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+26baa9a22be6e588a44298866ef15dffd1dbef5a	After initial clinical evaluation a diagnosis of acute myocardial infarction and @PHENOTYPICFEATURE$ with a suspicion of background @DISEASE$ was made.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+fd7dc487b2b14114dd4180a8daee97326d097dfa	Management of hypertension and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+2625061208bc8c290602180664d9df89f15b5389	It may be associated with endocrine disorders such as androgyneity, Cushing's disease, @DISEASE$ and other causes including @PHENOTYPICFEATURE$.	false
+ce4edd36c88e9c4fc71a00c7aa93ed2e3eb7ea5c	Nasu-Hakola is a progressive disease characterized by early onset cognitive @PHENOTYPICFEATURE$ and @DISEASE$ (both evident by the third decade).	false
+3beaf03369b61e679b4cf72d07310e9d7d498e7b	Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6f34d5a5ba036bbefd37dee59c31ffa6abb592f8	Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (NHD), a rare genetic disease characterized by early-onset @PHENOTYPICFEATURE$ with leukoencephalopathy and @DISEASE$.	false
+8c2517ea694b0b40923b05e34e9117e06364a40a	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset @PHENOTYPICFEATURE$ and @DISEASE$.	false
+495d0b851d324b525c1aeee23bccefddc9f87cfc	We report an 11-year-old girl with progressive hypopituitarism and @PHENOTYPICFEATURE$ of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with @DISEASE$.	false
+7744ea4a4728ab0d4e61a3857533d6255ea5c27b	@DISEASE$ (SS) is a very prominent feature in CKD including uglifying human face appearances, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, finger tip changes and severe psychological problems.	false
+7ad34da0165581840bae1788d1598c887bb03003	Four patients metthe criteria for @DISEASE$: chronic renal insufficiency, secondary hyperparathyroidism, @PHENOTYPICFEATURE$ changes in the skull and jaw that lead to festoon-like uglifying face, dental abnormalities, "brown" tumors, deformations of the phalanges of the fingers, psychological diseases and depression.	false
+7e2049eec8c646965a9e790370385b3a901c4305	Recently described @DISEASE$ (SS) is a very striking and prominent feature of SH in CKD, including an uglifying appearance to the face, @PHENOTYPICFEATURE$ severe maxillary and mandibulary changes, soft tissue in the mouth, teeth/dental abnormalities, fingertip changes, knee and scapula deformities, hearing abnormalities, and neurological and, more important, severe psychological problems.	false
+b1bafd71e30f5d22df88af59ffbdf4d296205fff	The 11-year-old proposita was referred for evaluation of @PHENOTYPICFEATURE$, moderate intellectual disability (ID), and @DISEASE$.	false
+29ffc94975cbd6bb69f832efda844e3644783ae3	Many "essential" diseases that manifest themselves in the form of crises or fits (epilepsies, @DISEASE$, periodic paralyses, myotonia, @PHENOTYPICFEATURE$, etc.) are due to ionic channel dysfunction and are thus referred to as "channelopathies".	false
+d92907ab933d5814e12e51006f97edcb099568af	Defective synthesis of thiamine pyrophosphate has been found in a small number of patients with @DISEASE$, delayed development and dystonia, while impaired transport of thiamine pyrophosphate into the mitochondrion is associated with Amish lethal @PHENOTYPICFEATURE$ in most cases.	false
+cad7dddbfc2203061798e608bc3d59da6307c8bc	Inherited disorders related to changes in excitability (@DISEASE$, epilepsy, heart @PHENOTYPICFEATURE$) or to defects in sensory perception (hearing loss) have been associated with mutations in a few voltage-activated potassium channel genes.	false
+eba2bca646aab9f1f3c40f5d2a84e565fde4f622	About half of the patients were referred to our facility with the diagnosis of hypothyroidism; presenting features in the rest of the patients included galactorrhea, menstrual irregularities, learning disability, @PHENOTYPICFEATURE$, precocious puberty, @DISEASE$, headaches, visual field defects, and dry ichthyotic skin.	false
+9dc5964039dc58fcb2fdf9bc8e55e39f065a23be	Practical genetic testing is possible to perform in both hypogonadotropic and @PHENOTYPICFEATURE$ and spontaneous @DISEASE$.	false
+a255181bfcefec98e6504cd0a9ae8b36e7940d04	Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by @DISEASE$, ocular and @PHENOTYPICFEATURE$, but may occasionally be associated with milder or oligosymptomatic disease variants.	false
+b3eb56006e226e1e25d5b074d355ef4d31b88671	We report a neonate with @PHENOTYPICFEATURE$ and @DISEASE$ of diffuse mesangial sclerosis type.	false
+39ef2409c9a05f94728ee375f6d0d61e10a1b481	Mutations in LAMB2, encoding the basement membrane protein, laminin ?2, are associated with an autosomal recessive disorder characterized by @DISEASE$, ocular abnormalities and @PHENOTYPICFEATURE$ (Pierson Syndrome).	false
+c8f4469ad52cd85bd73e0b0ecfefb6f25edb1d9f	Subcutaneous edema detected sonographically in the forms of nuchal edema, @PHENOTYPICFEATURE$ (@DISEASE$), or non-immune hydrops (NIH) may be a sign of chromosomal abnormalities.	false
+5dda565e2e25b42f6e8fe97aa556a1f8b9e35b8a	To assess the changes in corneal hysteresis (@DISEASE$) and corneal resistance factor (CRF) 1-year following transepithelial corneal collagen cross-linking (CXL) treatment in eyes of children with @PHENOTYPICFEATURE$.	false
+f95a89ed4f1a6a9b33b36756f1d7638d313e9fee	In conclusion, knowledge of the @DISEASE$ @PHENOTYPICFEATURE$ profile will enable better clinical surveillance in at-risk organs (i.e., liver, kidney).	false
+93fc9ffa368b2098aac5729b939a2fd5597fb8d9	A @PHENOTYPICFEATURE$ profile in @DISEASE$ (trisomy 18).	false
+0aa94a6dabd4c577fc544c120e1196ce572bddcd	To determine the @PHENOTYPICFEATURE$ profile associated with @DISEASE$, we performed a systematic review of the literature.	false
+f3f41f16f4ba11f0490936b313a25eed2bf08317	The tumor profile in Patau syndrome differs from that observed in @DISEASE$ (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular @PHENOTYPICFEATURE$ formations as it does particular malformations.	false
+b25cd75cd1f0da92d086222f3d6ba9879e0c49b2	The @PHENOTYPICFEATURE$ profile in Patau syndrome differs from that observed in @DISEASE$ (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations.	false
+0cd62b4f508aa85fdf7454083b673750dc52811f	Three different subtypes of MEN2, such as MEN2A, MEN2B, and @DISEASE$ (FMTC) have been defined, based on presence or absence of @PHENOTYPICFEATURE$, pheocromocytoma and characteristic clinical features.	false
+35479eacc0ba43bd410a09af84ff93f33c4f5f6e	Here, we describe a rare case of acute fibrinous and @DISEASE$, in an otherwise healthy 65-year-old Greek woman who complained of dry cough, @PHENOTYPICFEATURE$, weight loss and progressive dyspnoea.	false
+1272f9e136fc3007b25ce575b822bd4ddaddaf9e	@DISEASE$ syndrome developed in 4 (2.5%) patients, who had @PHENOTYPICFEATURE$ and nonproductive cough, with patchy infiltrative shadows on chest roentgenograms which emerged between 5 and 6 months after radiotherapy.	false
+90cb4964f004efbaed82cfc0611e5a09e2e2165d	@DISEASE$ and organising pneumonia (BOOP) presents with @PHENOTYPICFEATURE$, dyspnoea, and other features that may be mistaken for pneumonia.	false
+c341c50c40aa401decd9f6152efcb7fb235e9754	Bronchiolitis obliterans and @DISEASE$ (BOOP) presents with @PHENOTYPICFEATURE$, dyspnoea, and other features that may be mistaken for pneumonia.	false
+abd42371597c7d6cff665ef03a1b3821d9e5e007	We present a patient with COPD, in whom interstitial pneumonitis with radiologic features of @DISEASE$ developed after one year of amiodaron treatment due to supraventricular and @PHENOTYPICFEATURE$.	false
+8c316600c7a45dad22a480117eae6e50dac599b6	A novel COMP mutation in an Inuit patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c327c07f9eac4def8f0617fe4ac90a51d53b8100	Anti-GM1 antibodies were measured in 675 patients: 180 age- and sex-stratified healthy blood bank controls, 132 normal controls who had full neurologic assessment including electromyography, 121 patients with definite @DISEASE$ patients with pure @PHENOTYPICFEATURE$, and 173 consecutive patient serum samples submitted for GM1 antibody testing.	false
+4e68a44261065b1a400e27404b0c4582668f5d09	We have described unilateral renal aplasia, coloboma of iris, deafness, midline anomalies, @PHENOTYPICFEATURE$ and Moebius anomalad as features that were associated with @DISEASE$ in our group of subjects.	false
+7b6e77e08ff5fd56746923194843ec8474952411	In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, @DISEASE$, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene @PHENOTYPICFEATURE$, and cystic fibrosis transmembrane conductance regulator abnormalities.	false
+7d1a160368464b9de182e83d45f686aee2a60025	@PHENOTYPICFEATURE$ and lead poisoning in a child with @DISEASE$.	false
+4136011b77873394d7de699d670ca630c10871a3	@PHENOTYPICFEATURE$ and hypertension caused by lead intoxication are reported in two children with @DISEASE$.	false
+feac64d7ca04af838e5638b03017c0f03d9963e4	Martorell hypertensive-ischemic leg ulcer and its two "imitators" pyoderma gangrenosum and necrotizing vasculitides of the skin, necrotic @PHENOTYPICFEATURE$ (e.g., ecthyma, tropical ulcer, and others), chronic wounds caused by physical trauma (contusion (deep dissecting hematoma), radiotherapy or cryotherapy of skin cancers at the leg), leg ulcers in the context of congenital diseases (e. g., Klinefelter syndrome or @DISEASE$), skin ulcers caused by medical toxicity (hydroxyurea, anagrelide, methotrexate), and last not least ulcerating skin cancer at the legs, primary or secondary in an area of chronic inflammation.	false
+703864974d6b92c9047d0125c7dfe23db254677c	This isolate is a group of families who have been inbreeding since 1660 and now have the highest gene frequencies for @DISEASE$ and oculocutaneous @PHENOTYPICFEATURE$ in the United States.	false
+667068b66b1c5b8a2ee898d77b92e1e7fa26fb4e	A 14-year-old Afro-Trinidadian boy suffering from @DISEASE$ developed an acute facial swelling, mimicking facial @PHENOTYPICFEATURE$ of dental origin, which was caused by sickle cell-related hemorrhage.	false
+8c1482c03821490aa70890a9e87cdba92a6d4f79	Upper limb @PHENOTYPICFEATURE$ in @DISEASE$: MR neurography appearances.	false
+d8d6db22c18f85d62ffbabed94c8bc7d12d34359	We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent @PHENOTYPICFEATURE$; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-L?ken syndrome, @DISEASE$, and probably familial juvenile nephronophthisis.	false
+757ad45b1d34926cd5bc7062bcfc81f71dadcc59	@DISEASE$: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and @PHENOTYPICFEATURE$.	false
+360f9d8adedb08c5b434742a1f6b50f7ad1e219d	The results showed that, in fully amygdala-kindled rats, ZM241385 (0.001-0.1 nmol/L) decreased afterdischage duration (ADD), @PHENOTYPICFEATURE$ duration (@DISEASE$), stage 5 duration (S5D) and seizure duration (SD), but only the effect on ADD was dose-dependent.	false
+b0f7b9790c27eab5840818c8517882396296e285	The diagnosis of neonatal @DISEASE$ should be considered when dealing with the association of distinct facial anomalies, limited joint mobility, ichthyosis, and @PHENOTYPICFEATURE$.	false
+84795436d7524ef265badb1f080cf318e62bd204	Although the typical symptoms like headache, nausea, @PHENOTYPICFEATURE$, flushing, heart palpitation or paroxysmal hypertension during micturition are well established, we present an unusual case of bladder @DISEASE$, 'misdiagnosed' with basilar-type migraine due to headache for the past 8 years.	false
+319944e7ff3ed9999af85568882efad19ce2dec6	Familial carotid body @DISEASE$ and @PHENOTYPICFEATURE$: a new syndrome.	false
+962957cb7b13fc01f1ea85cd218974c01aadcc87	@DISEASE$'s (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+6d7cc1ff52a7de765c011363cf199bde2d677d33	To assess the prevalence and causes of @PHENOTYPICFEATURE$ in patients with craniosynostotic syndromes of Apert, Crouzon, Pfeiffer, Saethre-Chotzen and @DISEASE$.	false
+be50f51bd7f3e7866c301fa6c322a01f547d4e2e	A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, @PHENOTYPICFEATURE$, and scaphocephaly was clinically diagnosed with @DISEASE$.	false
+3e49382ec5fccc13f15157bb25bdc659332dcae2	@PHENOTYPICFEATURE$-associated gene sequencing is then performed and shows there are no pathogenic mutations, which suggested intrinsic cardiac factors are not the cause of exacerbation of the atrial septal defect in our patient and it is reasonable to assume @DISEASE$ can worsen the situation of the existing atrial septal defect.	false
+fb26881a724886ea62ea68369f9a7fb25cbdb780	@PHENOTYPICFEATURE$ vary greatly in @DISEASE$ and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect.	false
+aa9e520313b6f04245e323ec4aa0b75c30296acf	Cardiac abnormalities vary greatly in @DISEASE$ and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing @PHENOTYPICFEATURE$.	false
+26e0ea32b57619e10ca3648948dc495066cf7ebc	Cardiac abnormalities vary greatly in @DISEASE$ and @PHENOTYPICFEATURE$ have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect.	false
+ac9ab9bdc400ef559dd4d651e04618196a742376	The anti-CD20 monoclonal antibody rituximab is an effective treatment for @DISEASE$; however, it has been associated with infusion reactions, including @PHENOTYPICFEATURE$.	false
+1cbc40e0eeb3acded118e185238ead239f84fac9	@DISEASE$ (CLL) was diagnosed in two horses: an 18-year-old Quarter Horse gelding that was examined because of edema of the prepuce and ventral abdomen; and a 20-year-old mixed breed gelding that was referred because of lymphocytosis, ventral @PHENOTYPICFEATURE$, and weight loss.	false
+17c864ab67dab4ea61cb95bb23a46be61e39099d	@DISEASE$ (CLL) was diagnosed in two horses: an 18-year-old Quarter Horse gelding that was examined because of @PHENOTYPICFEATURE$ of the prepuce and ventral abdomen; and a 20-year-old mixed breed gelding that was referred because of lymphocytosis, ventral edema, and weight loss.	false
+07ed5e6d30f4b590bb64db5730138d1ef269c914	A 65-year-old male with peripheral neuropathy and @DISEASE$ presented with erythema and @PHENOTYPICFEATURE$ of the left foot.	false
+be9f64016a9cbf54e2fcd7ae008906a566422758	Systemic granulomatosis and polyarthritis with pitting @PHENOTYPICFEATURE$ in B-@DISEASE$.	false
+4d575528b36a6f2cbcd64ec186efa1df1a6856d5	Herein, we present the case of a 48-year-old man with a 2-year history of @DISEASE$ who developed fever and @PHENOTYPICFEATURE$, without any evidence of a relapse.	false
+dddc75e9f142e1ec5b2222a7f6f4fd690aeb28b3	We report the case of a Richter's syndrome revealed by @PHENOTYPICFEATURE$ and superior vena cava syndrome in a patient of 78 years followed during 2 years for @DISEASE$.	false
+67f765161668c57fbfb739cb098189da49326a08	However, to date, no HPGD mutated @DISEASE$ patients presenting concomitant @PHENOTYPICFEATURE$ has been documented.	false
+6ca85ebd8fc9116b19140a91a5d6d44059695c55	The first case of @DISEASE$ with soft tissue giant @PHENOTYPICFEATURE$ caused by HPGD loss-of-function mutation.	false
+c51e09c931a2b78141ed3e1c231c8b247fc7f2be	The quantity of new bone formed in athymic mice in response to implants of PHO, estimated from equivalent quantities of bone developed from implants of lyophilized matrix-free bone morphogenetic protein (BMP) was about 1 microgram/g of wet @DISEASE$ @PHENOTYPICFEATURE$ weight.	false
+6d00fab1491e3ae0502b40260787a4d7986674f7	A therapeutic renal effect has been observed in patients with hepatorenal syndrome or severe @DISEASE$, in patients requiring vasopressors and IABP, and in selected cases of acute oliguric @PHENOTYPICFEATURE$ and shock.	false
+48d031a04b1c5735e0dd9251434072045fcf998a	Severe @DISEASE$ is a complication of hormonal therapy for in vitro fertilization and carries the risk of @PHENOTYPICFEATURE$.	false
+53a098654c12c142f4dd1aa7d0a07005b0fc4726	Moreover, the "ovarian-derived prorenin-angiotensin cascade" appears to play an important role in the aetiopathogenesis of diseases such as ovarian @PHENOTYPICFEATURE$, @DISEASE$ and ectopic pregnancy.	false
+dc84b297ae047e56bdb2b6e08d4a80455bb05a8a	Obstructive uropathy as the etiology of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+53a098654c12c142f4dd1aa7d0a07005b0fc4726	Moreover, the "ovarian-derived prorenin-angiotensin cascade" appears to play an important role in the aetiopathogenesis of diseases such as ovarian @PHENOTYPICFEATURE$, @DISEASE$ and ectopic pregnancy.	false
+c15e9533f28457dd1f9299f746e5f4040ff367ba	Ovarian torsion seems to develop in association with @PHENOTYPICFEATURE$, cysts, and @DISEASE$.	false
+8214a088cad1495ac86187e75dc9f3ee4b197520	It can be applied in patients with a contraindication to ovarian stimulation to prevent @DISEASE$ or to eliminate the risk of stimulation of hormone-sensitive @PHENOTYPICFEATURE$ in cancer patients.	false
+c747762d4fac08d65db24f9816c4dd5e441a9949	2-3 months after management of the @DISEASE$, investigation revealed large ovarian mass and increased @PHENOTYPICFEATURE$ marker inhibin.	false
+180c6a5a97efe6aa904866a2a47c2b1e22b956b1	If underlying causes such as @DISEASE$ (OHSS) or septic thrombophlebitis (Lemierre's syndrome) are excluded, a serous borderline ovary tumour (BOT) must be considered and MR imaging of the abdomen could be performed to find a primary @PHENOTYPICFEATURE$ mass.	false
+0d2c0b1223594a32a70d50ae2d86b13679c1b21b	If underlying causes such as ovarian hyperstimulation syndrome (@DISEASE$) or septic thrombophlebitis (Lemierre's syndrome) are excluded, a serous borderline ovary tumour (BOT) must be considered and MR imaging of the abdomen could be performed to find a primary @PHENOTYPICFEATURE$ mass.	false
+0d387b2effd45041652c4128d6a1633251a6529f	If underlying causes such as @DISEASE$ (OHSS) or septic thrombophlebitis (Lemierre's syndrome) are excluded, a serous borderline ovary @PHENOTYPICFEATURE$ (BOT) must be considered and MR imaging of the abdomen could be performed to find a primary tumour mass.	false
+4705af662824cda92e78a547acd07b9d55a71e50	If underlying causes such as ovarian hyperstimulation syndrome (@DISEASE$) or septic thrombophlebitis (Lemierre's syndrome) are excluded, a serous borderline ovary @PHENOTYPICFEATURE$ (BOT) must be considered and MR imaging of the abdomen could be performed to find a primary tumour mass.	false
+28b9240f9d2dbf0ff7736123c0cdbb882553bf9b	In the present study, we sought to determine whether women undergoing OIT at our in vitro fertilization (IVF) clinic, especially those with severe ovarian hyperstimulation syndrome (@DISEASE$) and suspicious cytologic findings, were at risk for developing malignant ovarian @PHENOTYPICFEATURE$ after treatment.	false
+797260be0ad86cd8987e46a02ca2b2e1cf745d93	In the present study, we sought to determine whether women undergoing OIT at our in vitro fertilization (IVF) clinic, especially those with severe @DISEASE$ (OHSS) and suspicious cytologic findings, were at risk for developing malignant ovarian @PHENOTYPICFEATURE$ after treatment.	false
+ed3535ed3cc858449a8407ea8d2842b0c5654ca8	@DISEASE$ is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in @PHENOTYPICFEATURE$, midface anomalies, tracheomalacia, and hearing loss.	false
+d440ed7918ed01c573422c5973f08bc1c84fcff5	Genetic testing for COL2A1 confirmed @DISEASE$; i.e., a de novo @PHENOTYPICFEATURE$ of A-C transversion at the splice acceptor site of the 3' end of intron 16.	false
+b50d0ed06c63acaacca6522a8f7ec8be8cff56aa	The majority of the patients (80/93) had @PHENOTYPICFEATURE$, with radiological features of SEDC (n?=?64), others having SEMD (n?=?5), @DISEASE$ (n?=?7), spondyloperipheral dysplasia (n?=?2), or Torrance-like dysplasia (n?=?2).	false
+c9d92f7fb666093641db05acc575fc32f1bdabfb	@DISEASE$-triglycemia and hypo-HDL-cholesterolemia, which are frequently accompanied with @PHENOTYPICFEATURE$, might also protect against fracture.	false
+4c6e6d641eaff6c68f0bd85e6907872719a72a28	Conditions highlighted in this review include: the elderly, heart transplantation, @DISEASE$-reactive airway disease, coronary artery disease, and @PHENOTYPICFEATURE$.	false
+46fba061538318374da522c91e7995340ea89093	TACE treatment with STZ was very well tolerated with 10.3?% of treatments being associated with side effects, predominantly transient, including @DISEASE$/hypotension, @PHENOTYPICFEATURE$, or postembolization syndrome.	false
+db18880c188d54a302ea3af2ac8f5ee116c04ce5	@DISEASE$-CK-emia was incidentally noted while managing a patient, aged nine, with mental retardation, epilepsy and mild @PHENOTYPICFEATURE$.	false
+5e6a37bf45c7d667cf82e90e68b61628a3d1626a	@PHENOTYPICFEATURE$ and @DISEASE$-magnesemia were both associated with poor outcome as measured by either survival or length of ICU stay.	false
+7eee678aa4649030c9f1322949d4b13f42418bfa	We conclude that @PHENOTYPICFEATURE$, @DISEASE$-triglyceridemia and impaired glycemic control in HCFD rats are countered by prava.	false
+6caf7b1c651aea2df7948d47d9ba3a7bc5eb803c	@PHENOTYPICFEATURE$ and @DISEASE$-bilirubinaemia are other complications.	false
+4b54941a096ed153a790892814e680a72843f4e1	[@DISEASE$ acidemia and @PHENOTYPICFEATURE$].	false
+57eaa64546e0db2722f215037598da8255155787	In this review, the characteristic milestones of type 2 diabetes mellitus were condensed as two analogical conceptual models, @PHENOTYPICFEATURE$-@DISEASE$-insulin-insulin resistance-type 2 diabetes mellitus and obesity-hyper-galanin-galanin resistance-type 2 diabetes mellitus.	false
+16262f55e22434946829d0b59206cfc611061574	In this review, the characteristic milestones of type 2 diabetes mellitus were condensed as two analogical conceptual models, obesity-@DISEASE$-insulin-insulin resistance-type 2 diabetes mellitus and @PHENOTYPICFEATURE$-hyper-galanin-galanin resistance-type 2 diabetes mellitus.	false
+61cd1c559dea5eabcc7440cb7131db75c22f6d72	In this review, the characteristic milestones of type 2 diabetes mellitus were condensed as two analogical conceptual models, @PHENOTYPICFEATURE$-hyper-insulin-insulin resistance-type 2 diabetes mellitus and obesity-@DISEASE$-galanin-galanin resistance-type 2 diabetes mellitus.	false
+cd65e9e2ca1468754b259b06589383b19b096ec6	In this review, the characteristic milestones of type 2 diabetes mellitus were condensed as two analogical conceptual models, obesity-hyper-insulin-insulin resistance-type 2 diabetes mellitus and @PHENOTYPICFEATURE$-@DISEASE$-galanin-galanin resistance-type 2 diabetes mellitus.	false
+fc850fb882167abf6fcbd1b6d1fc4192ec4e563b	Marked @DISEASE$-HDL2-cholesterolemia associated with premature @PHENOTYPICFEATURE$.	false
+cf2bf75ccb9bddd94df3500bc06a88c167ded13c	In terms of adverse pathologic prognostic factors and BRFS, GS < 7 @PHENOTYPICFEATURE$ with TGC behaved significantly worse than GS < 7 tumors without TGC (P = 0.01 and P = 0.001, respectively) with properties similar to @DISEASE$+4 tumors without TGC.	false
+9bcb6c85ab56c1017c4de9a9f410233e568ccf6f	In terms of adverse pathologic prognostic factors and BRFS, GS < 7 tumors with TGC behaved significantly worse than GS < 7 tumors without TGC (P = 0.01 and P = 0.001, respectively) with properties similar to @DISEASE$+4 @PHENOTYPICFEATURE$ without TGC.	false
+c5f6db268958c40d46ef1df1ef0d674a5ffb8541	In terms of adverse pathologic prognostic factors and BRFS, GS < 7 tumors with TGC behaved significantly worse than GS < 7 @PHENOTYPICFEATURE$ without TGC (P = 0.01 and P = 0.001, respectively) with properties similar to @DISEASE$+4 tumors without TGC.	false
+55e78c4faab255776dd34de2342d10d835270d2f	Tumours with a final GS of 4 + 3 are more aggressive than @DISEASE$ + 4 @PHENOTYPICFEATURE$.	false
+7de7ddfa118493305d02dfdea68a32d268066aef	During the mean observation of 48.9 months, biochemical recurrence occurred in 211 patients (22.0%), and there was a significant difference in the biochemical recurrence-free survival between patients with @DISEASE$+4 tumors and those with GS 4+3 @PHENOTYPICFEATURE$.	false
+3c83e14ec7d898370c4d3a0e8c6a7eb0c24b298a	During the mean observation of 48.9 months, biochemical recurrence occurred in 211 patients (22.0%), and there was a significant difference in the biochemical recurrence-free survival between patients with @DISEASE$+4 @PHENOTYPICFEATURE$ and those with GS 4+3 tumors.	false
+efba06685a70a9111596e727d9fe92aa8b0653e2	An intravitreal injection of bevacizumab combined with systemic steroid in VKH is expected to shorten the time for the persistent presence of @DISEASE$ and to prevent the permanent @PHENOTYPICFEATURE$.	false
+c8def5745341bddc3bc5593e119e763d38f468bd	A 63-year-old woman presented with bilateral @PHENOTYPICFEATURE$ due to an @DISEASE$ with IPS.	false
+9e62fe3ff92c7ce12f57ad02d89a240534109f66	A 15-year-old boy with history of SWS was referred with a complaint of sudden @PHENOTYPICFEATURE$ 2 days before, having choroidal hemangioma accompanied with @DISEASE$.	false
+bd60fa21a14827263becf54c8d42cff47014ec5e	None had @PHENOTYPICFEATURE$, glaucoma, or @DISEASE$.	false
+633a9e2f72ee0a6c28d2451cb095babd726ec59e	The main clinical characteristics of our cohort were dysmorphic @PHENOTYPICFEATURE$, areflexia, failure to thrive, corneal opacity, @DISEASE$, dysgenesis of the anterior chamber of the eye, and death within the 1st year of life.	false
+bc364739155e8f5eb1f1420704b3e3cf3954a6ae	The main clinical characteristics of our cohort were dysmorphic face, hypotonia, areflexia, @PHENOTYPICFEATURE$, corneal opacity, @DISEASE$, dysgenesis of the anterior chamber of the eye, and death within the 1st year of life.	false
+77fca6b8868925c6fe25ea8cc107f293493244a5	CAMFAK syndrome is an inherited disease characterized by congenital @DISEASE$, @PHENOTYPICFEATURE$, failure to thrive, and kyphoscoliosis with onset in early infancy.	false
+436ffda0a9a006b9f041d0eec8afa0a7acd38715	CAMFAK syndrome is an inherited disease characterized by congenital @DISEASE$, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis with onset in early infancy.	false
+382d7f601ce1e173152dc9553d1789a069889605	The main clinical features are severe dwarfism (<-2 SD), @PHENOTYPICFEATURE$ (<-3 SD), psychomotor delay, sensorial loss (@DISEASE$, pigmentary retinopathy, and deafness), and cutaneous photosensitivity.	false
+082f3636ebb0d6054d3fcfb670dac01fc22c4bcc	The main clinical features are severe dwarfism (<-2 SD), microcephaly (<-3 SD), psychomotor delay, sensorial loss (@DISEASE$, pigmentary retinopathy, and deafness), and @PHENOTYPICFEATURE$.	false
+6496b81e5dd388459e9c844d4c63169618ae691e	A 34-year-old Japanese male had leg pain, @PHENOTYPICFEATURE$ of the legs, hypohidrosis, whorl-like opacities of the bilateral cornea, bilateral subcapsular @DISEASE$, and chest discomfort on exercise.	false
+f4ba80e79c1cf526fe698348a30186e1b8a6a713	A 34-year-old Japanese male had leg pain, edema of the legs, @PHENOTYPICFEATURE$, whorl-like opacities of the bilateral cornea, bilateral subcapsular @DISEASE$, and chest discomfort on exercise.	false
+5df9c3081bd3df23e074f751934206c35cb06ade	This retrospective study consisted of 186 eyes of 149 patients with various @PHENOTYPICFEATURE$ and visually significant @DISEASE$.	false
+e2ff3e1f5c8cb550dd58444019fabc5976a52f3f	Typical features include developmental delay, failure to thrive, @PHENOTYPICFEATURE$, cutaneous photosensitivity, dental anomalies, progressive hearing loss, pigmentary retinopathy, @DISEASE$ and enophthalmia.	false
+66af9452a7d1040797845f5f90dd1aaebbe96eef	Typical features include developmental delay, failure to thrive, microcephaly, @PHENOTYPICFEATURE$, dental anomalies, progressive hearing loss, pigmentary retinopathy, @DISEASE$ and enophthalmia.	false
+c01abed4041dd83f57692f23cfa7c9ecf4145f17	Typical features include developmental delay, @PHENOTYPICFEATURE$, microcephaly, cutaneous photosensitivity, dental anomalies, progressive hearing loss, pigmentary retinopathy, @DISEASE$ and enophthalmia.	false
+8781ed238bee5e87c0e67df807cf58c213677da1	Congenital @DISEASE$ are often complicated by @PHENOTYPICFEATURE$.	false
+95399eb0b017ccdd45d24ed55997b76fac226971	Apart from the myotonic phenomenon it involves @PHENOTYPICFEATURE$, endocrine disorders, baldness, cardiac arrhythmias, hyperglycaemia, @DISEASE$.	false
+43c6321ad4aa7075e3b863d3fbb224dac4c133d3	Apart from the myotonic phenomenon it involves muscular atrophy, endocrine disorders, baldness, @PHENOTYPICFEATURE$, hyperglycaemia, @DISEASE$.	false
+7d4af01efad55ff024fe4137ee673ede8aa7158e	This retrospective study consisted of 113 eyes of 109 patients with various @PHENOTYPICFEATURE$ and visually significant @DISEASE$.	false
+d76bece178069077740fc8425e7d1eab4be4c756	The first fetus had @PHENOTYPICFEATURE$, was without cleft palate, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and @DISEASE$.	false
+706ddde8e79f75294eac104d0d40172053b5e9c0	[@DISEASE$ associated with a periampullary @PHENOTYPICFEATURE$.	false
+357aa5994ad5ec106d76f46516286be7564bb9e5	@DISEASE$ presenting with a fibromatous @PHENOTYPICFEATURE$ of the parotid.	false
+a747a70d912688598083362f2ff31c5a0aac08e3	This is a rare benign @PHENOTYPICFEATURE$ often found in association with @DISEASE$.	false
+b53a331c3c990925f4eaabe28b57e74ec65e4024	We present a case of such a @PHENOTYPICFEATURE$, in the context of @DISEASE$.	false
+3049e8285765882bd324ee847c201f97fe5cbaaa	Thyroid @PHENOTYPICFEATURE$ and familial adenomatous polyposis/@DISEASE$.	false
+6398f1266838a06b3bc1ba2b0be89c05696403a9	Although this syndrome is associated with intracranial @PHENOTYPICFEATURE$, it is unclear whether patients with both @DISEASE$ and CPG are part of the heterogeneity of Gardner's syndrome.	false
+9a0ee51d970d10cf521fdb80f567010c1e2eae49	Although this syndrome is associated with intracranial @PHENOTYPICFEATURE$, it is unclear whether patients with both Gardner's syndrome and CPG are part of the heterogeneity of @DISEASE$.	false
+d26d3886c0b4a6625420c34289283f1d78dc91b1	Mesenteric fibromatosis is a rare @PHENOTYPICFEATURE$ often associated with @DISEASE$.	false
+0d0e13ab22469e14a511cdcc5e9c2315c57bc867	Out of 12 @PHENOTYPICFEATURE$ associated with pregnancy or @DISEASE$, only two displayed changes.	false
+e9dc306cf0ce497464e92cf2571b20e94ce33272	Biliary @PHENOTYPICFEATURE$ in @DISEASE$.	false
+f36f78917431cf1cca8cee567a22f368df62ae31	Most often these @PHENOTYPICFEATURE$ associated with familial adenomatous polyposis or @DISEASE$.	false
+c7abb2ba5cecd2c2704b4b2064bc6825d7d72d24	A growing literature demonstrates that @DISEASE$ is associated with @PHENOTYPICFEATURE$, disease and death.	false
+122b7fcf1f399dbe23e78767fe2e81430f1a0447	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, @PHENOTYPICFEATURE$, severe intellectual disability, skeletal abnormalities, congenital cardiac disease and cortical visual impairment.	false
+9047109d6ba5236af0b98925fb2af6db431054da	We report a case of moderate intrauterine @PHENOTYPICFEATURE$ with a congenital skull fracture and subdural hematoma, related to @DISEASE$.	false
+8844ebb4401bdadccc2d098e1e6e3251444a085b	From a recently created @DISEASE$/OHS patient registry, we identified four of 95 patients with major @PHENOTYPICFEATURE$ (4.2%), a proportion exceeding the general population prevalence (?1%).	false
+e239027c0573cacf1c639599b8fb634553aae5df	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$ and inferior cerebellar vermian hypoplasia.	false
+60cf15b6df00aba113192ed1859d9a127642c1e5	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), brain tumours (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), @PHENOTYPICFEATURE$, multiple sclerosis (MS), muscular dystrophies (@DISEASE$), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+ee97bb0e5cd8f15610e4d8a9b9499009a6afb4ae	Increased frequency of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e4e1d5fe2fd1354700c326e0f608611d91b6b100	A distinct pattern of @PHENOTYPICFEATURE$ and neuropathological findings may help to identify other families with @DISEASE$ caused by this genetic abnormality.	false
+f6a114940d49ac77b295e19ff66be627416d91b3	Efficacy measures involved pain (numeric rating scale, McGill pain questionnaire), @PHENOTYPICFEATURE$ (Burke-@DISEASE$-Marsden dystonia rating scale, unified myoclonus rating scale, tremor research group rating scale), activity (Radboud skills questionnaire, walking ability questionnaire), and a clinical global impression (CGI) and patient's global impression score (PGI).	false
+59ccb09403a6fa63a895a6a4b5d0c54c7555ff68	Preoperative and postoperative videos were scored using the Barry-Albright Dystonia Scale (BADS) and Burke-@DISEASE$-Marsden Dystonia Rating Scale (BFMDRS) by a neurologist specializing in @PHENOTYPICFEATURE$.	false
+5677cc734d51b053fbf8c8e6c4547a2330ef9473	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, deafness, @PHENOTYPICFEATURE$, ichthyosis and keratodermia) syndrome, @DISEASE$, HPS (Hermansky-Pudlak syndrome) and HSP (hereditary spastic paraplegia).	false
+63294ce7612d38f081b0dcc5b2b78b82bc32d65b	@DISEASE$ is a rare congenital anomaly that is characterized by facial, hand, and @PHENOTYPICFEATURE$.	false
+5bedbb952df651e3f56a16e64b2e07e16a6a985d	@DISEASE$; Skew @PHENOTYPICFEATURE$; Metatarsus adductus.	false
+00c5014f25d76f00d258e76d377c6569b79595ae	Talectomy was performed on 10 patients (15 feet) for club @PHENOTYPICFEATURE$ in @DISEASE$.	false
+94b92a0a54d8fe409beeb766ce2cc1e827833ef1	Of the 13 patients, 9 (69.23%) had a @PHENOTYPICFEATURE$ due to @DISEASE$ and 1 (7.69%) each due to sacral agenesis, spastic cerebral palsy, neglected congenital talipes equinovarus, and post-traumatic contracture.	false
+0cc20bf52d05fcfffb3e325c39e207733fc7a438	A case report is presented in which tissue expansion is used to provide the additional skin needed during an opening wedge mid-foot osteotomy to correct a varus @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+56e3c8975c2ed595c9325066a0a2b459d727b8e9	To report experience in patients with @DISEASE$ (KS) in whom urography was used to establish the type and frequency of @PHENOTYPICFEATURE$ associated with the disorder.	false
+ad548f65e180122a178bb6e2d17507e3f39622aa	The radiologist is rarely directly confronted with contrast medium-induced renal impairment or @DISEASE$ @PHENOTYPICFEATURE$.	false
+6f4714e5351af8ed34a85ed9beecf7c8cbf60644	The absence of dystrophin leads to myofiber membrane fragility and necrosis, with @DISEASE$ muscle atrophy and @PHENOTYPICFEATURE$.	false
+3451a03ac01cd510319acb8a71c416302c38e5c7	In experimental animals, a reduction in renal mass leads to glomerulosclerosis of the residual parenchyma and @DISEASE$ @PHENOTYPICFEATURE$.	false
+76d4735a240c13240c2ade16d9ff998f97bcdf9a	Risk factors for 1-year mortality among patients with @DISEASE$ included @PHENOTYPICFEATURE$, worse functional class, and bleeding requiring transfusion.	false
+5da80341f26c03062abeefd1901eca333c091ee5	When left untreated, hypercalcemia leads to nephrocalcinosis, impairment of kidney function, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+acf6ac81c31d759272058f2431c9c3e18da022e9	ADPKD is characterized by progressive replacement of kidney tissue by epithelial cysts and @DISEASE$ @PHENOTYPICFEATURE$.	false
+63293ca18e171a9a6453addaaa8fa9fb37e8c573	Ureteropelvic junction obstruction is a well-recognized cause of pain and @DISEASE$ @PHENOTYPICFEATURE$.	false
+1124e02ff0c0544ca3198398c8897a3908704c64	This can ultimately result in upper tract deterioration and @DISEASE$ @PHENOTYPICFEATURE$.	false
+52f3a77178543ac4eb5ad14bb1f6172afcca0b24	Dent's disease is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and @DISEASE$ @PHENOTYPICFEATURE$.	false
+fe702becc0d2cb58bb2f3f1105945e8dd08f0ff7	Forty-three symptomatic patients with bilateral @PHENOTYPICFEATURE$ were studied in which one limb was randomly assigned to receive EVA without SFJ ligation, and the other limb received @DISEASE$ with SFJ ligation.	false
+6021af2a8850de08fbc7281bfd601231e75cdee7	Excess GC can elicit a variety of symptoms and signs, including @PHENOTYPICFEATURE$ in children; immunosuppression; cardiovascular disorders like hypertension and atherosclerosis; osteoporosis; @DISEASE$.	false
+6f6ab8241a10facd2923fac27dec91f01f44d136	Other clinical findings in the @DISEASE$ (CGKD) patients are mental retardation, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+12721084b49589a6adaf0339cf541991b79718f9	We report here on a 24-year-old woman with this syndrome who presented with @DISEASE$, hearing abnormalities, @PHENOTYPICFEATURE$ and an unusual infratentorial brain involvement.	false
+8ae4b482c3d72d8ed607cf2a012c704a9db4f3c3	A 3.5 year old boy with @DISEASE$ disease (SCID), who had been in laminar flow isolation throughout his life, developed a B cell @PHENOTYPICFEATURE$ producing up to 3008 mg/dl of an IgM kappa paraprotein 1 month after infusion of both liver and thymus cells from a fetal donor and 6 months after the last of six fetal liver cell infusions given over a 3 year period.	false
+261a5d0833cf4a7765431c71b5b90a8a759bc8d2	Mutations have been identified in alpha-tropomyosin (Tm), a key regulatory protein in striated muscle cells, that are associated with a human cardiac @PHENOTYPICFEATURE$, hypertrophic cardiomyopathy (FHC) and a human skeletal myopathy, @DISEASE$ (NM).	false
+9bd5e59b7e498dafaba886da69aa7961507ee8d4	The inherited muscle diseases, skeletal muscle @DISEASE$ and cardiac muscle hypertrophic @PHENOTYPICFEATURE$ (HCM) have been recognised for decades.	false
+20e59225b06f517f8e585dd0c1cfd3c73ba10966	@DISEASE$, @PHENOTYPICFEATURE$, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.	false
+8810850f1ca9a466fbe2bc219c8b43e274ac07f9	@DISEASE$ (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and @PHENOTYPICFEATURE$.	false
+f9a2029cbb753d6ad2805ffd75cf9f62418e5447	Most of the reported cases of @DISEASE$ are sporadic and caused by de novo @PHENOTYPICFEATURE$; however, some rare cases can also result from parental germline mosaicism associated with a greater risk of recurrence in successive pregnancies.	false
+77f50bb8b6ff844bec4110afa341f0dbc04f0061	We describe a man with an extra-adrenal phaeochromocytoma (@DISEASE$) presenting with diaphoresis, @PHENOTYPICFEATURE$ and multi-organ failure.	false
+a27008b1435018f0a654820362ea06b32310de9e	We presented a middle-age female patient with functional urinary bladder @DISEASE$, with a 3-year history of repeated episodes of @PHENOTYPICFEATURE$, dysuria and hematuria.	false
+6816283d2a9889cd7bcf657f219c525228404b24	Gangliocytic @DISEASE$ is a rare tumor, almost always located in the second portion of the duodenum, and manifested with upper gastrointestinal bleeding and @PHENOTYPICFEATURE$.	false
+5befc99d6054bbbd08e61da45c94f7a48974877e	Twenty-seven cases are reported in literature: the most commonly observed neoplasm is gastric leiomyosarcoma (26/27) followed by @PHENOTYPICFEATURE$ (22/27), and gastric @DISEASE$ (15/27).	false
+abebf2b5f2e708f0a7f006b83d2eb4b451877e9d	The clinical perspectives of cardiac @DISEASE$ and cardiac @PHENOTYPICFEATURE$ are discussed.	false
+0326bbc331b841b23f2d7caa61f877b36930d0a3	Gangliocytic @DISEASE$ (GPG) with local lymph node metastasis was found in the pancreas of a 74-yr-old female who presented with diarrhea, steatorrhea, @PHENOTYPICFEATURE$, nausea, and abdominal pain.	false
+8442c5a1507c8a9ab9b154c85ac1599cf6490e9a	Gangliocytic @DISEASE$ (GPG) with local lymph node metastasis was found in the pancreas of a 74-yr-old female who presented with diarrhea, steatorrhea, vomiting, nausea, and @PHENOTYPICFEATURE$.	false
+564df479c39dab766e26bd4c1e5b1d7b039a633d	Following a 2000 report from a @DISEASE$ patient experiencing exercise-induced nausea and vomiting, we began asking patients about instances of @PHENOTYPICFEATURE$ with exercise.	false
+723a56f23b9d6ed363c2bbd42076687aa19cd079	@DISEASE$ and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the @PHENOTYPICFEATURE$/dystonia peptide gene.	false
+a49914215c1db2b09a11eea560484573e4edab4f	The most dramatic clinical example of the association between @PHENOTYPICFEATURE$ and hyperandrogenism is the HAIR-@DISEASE$.	false
+2250a23d413ef8674dcd6af198e21c2b95920f80	The most dramatic clinical expression of the association between @PHENOTYPICFEATURE$ and hyperandrogenism is the HAIR-@DISEASE$.	false
+a87be3679b1a3fc7f7e488787190d58d0a6abf4a	The presence of @DISEASE$ (BCCs) is a cardinal sign in NBCCS, therefore cases in which BCCs are absent entails a delay in the diagnosis.We present a 14 years old boy with a clinical diagnosis of NBCCS by the presence of odontogenic cysts, hypertelorism, macrocephaly, and @PHENOTYPICFEATURE$, but with absence of skin lesions.	false
+7ccf71c5c3c6d48af3bcc3b3e572fe5bbcd4412b	[@DISEASE$ with @PHENOTYPICFEATURE$, PTCH1 mutation and absence of basal cell carcinoma].	false
+78b96fbd28483061856d3a6672f81bfac8aed92c	Four patients affected with the @DISEASE$ and recurrent @PHENOTYPICFEATURE$ are described and the pertinent literature is reviewed.	false
+6b556478b29341f888db96072187d5cab954aec9	Because the patient's @PHENOTYPICFEATURE$ resolved after a modified left anterior temporal lobectomy, this case illustrates that epilepsy in patients with the @DISEASE$ is potentially curable and should be investigated appropriately.	false
+87fcb9236b3f41c5dae2440bad80f5818ca3f1c2	We reported the magnetic resonance imaging of four young patients (13 to 19 years) with @DISEASE$ (NBCCS), which showed empty sella, @PHENOTYPICFEATURE$ and empty sella, an interhemispheric lipoma with callosal dysgenesis, and an arachnoid cyst in the posterior fossa, respectively.	false
+51afc50e443a5d445c6af97afc3c719ef8836d48	In addition to mental retardation, congenital communicating hydrocephalus, and medulloblastoma, @PHENOTYPICFEATURE$ should be included among the neurological manifestations of the @DISEASE$.	false
+01554d1bc37f89800123e0f9a9936b718424603a	@DISEASE$ (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral @PHENOTYPICFEATURE$.	false
+fbf4661ee854809923fe177c95e99c5a577629f3	The hypothesis tested in this study was that a reduction in venous compliance in the territory drained by the superior sagittal sinus (SSS) is associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bfb31f1da0d15a990f790ca6fa0c195a8c7ad523	The use of CT scanning is conjunction with other more invasive neuroradiological studies results in improved diagnosis and patient management in almost the entire spectrum of neurosurgical diseases-- subarachnoid hemorrhage due to aneurysm, stroke, trauma, @DISEASE$, and especially @PHENOTYPICFEATURE$.	false
+7f86b483158bceb622e0c2a5872aff04eaa8a11b	Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such @DISEASE$ and/or genetic defects and @PHENOTYPICFEATURE$, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases.	false
+5ff7ec193e3b721596fa536a6a3737a1694e9983	Less frequently, it is observed with significant elevation of serum lipid levels in association with certain grave abnormalities like hypertension, ischaemic heart disease,' familial @DISEASE$ @PHENOTYPICFEATURE$, diabetes etc.	false
+833496f90233b5a684f464cfd7c7fbeff3407159	@DISEASE$ or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulphatase B. The resultant accumulation of dermatan sulphate causes lysosomal damage.The clinical symptoms are related to @PHENOTYPICFEATURE$ (i.e.	false
+8af1d9afda3ada00671fa3fe392aa4d1632facd8	Mucopolysaccharidosis type VI or @DISEASE$ is a rare genetic disorder caused by the deficiency of arylsulphatase B. The resultant accumulation of dermatan sulphate causes lysosomal damage.The clinical symptoms are related to @PHENOTYPICFEATURE$ (i.e.	false
+5b6a5b60e9cb9a8b6075f5a02fa8cfd5e38872b6	Patients with @DISEASE$ or Hunter syndrome showed improvements in hepatomegaly, @PHENOTYPICFEATURE$, short stature and tight skin, and this greatly increased their quality of life.	false
+a4f65554bb309cfe091604bd36f762fe6fe49c2b	Mucopolysaccharidosis type VI (@DISEASE$) is an autosomal recessive lysosomal storage disorder, characterized primarily by skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+f584fd00583e5620d5889fdea538a35dbe24f5a4	@DISEASE$ (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder, characterized primarily by @PHENOTYPICFEATURE$ and joint contracture.	false
+7948725ea81a174207f663b8d08bb89de86279d7	Mucopolysaccharidosis type VI (@DISEASE$) is an autosomal recessive lysosomal storage disorder, characterized primarily by @PHENOTYPICFEATURE$ and joint contracture.	false
+477fd3c8a50dafb092b9fc8f86f433aa47766899	@DISEASE$ (MPS VI, Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder, characterized primarily by skeletal dysplasia and @PHENOTYPICFEATURE$.	false
+1b4eea30e71d253061efaea3e2a18a46cb64983c	@DISEASE$ is an inherited disorder of glycosaminoglycan metabolism characterized by organomegaly, corneal clouding, and @PHENOTYPICFEATURE$.	false
+19aae5f269bf1d354adb2497f8f58b47d1501609	Many patients with @DISEASE$ have the same underlying chromosomal etiology, however the same deletion results in severe dysmorphic features, immune defect, hypocalcaemia and in @PHENOTYPICFEATURE$.	false
+3f4acd57f7fcce5316fc993c0c60a4a7a93abcdf	The patients included two children presenting the phenotypic features of the Goldberg-@DISEASE$: distinct dysmorphic facial features, microcephaly, and mental retardation, along with @PHENOTYPICFEATURE$ and cortical malformations associated with intractable seizures in one child.	false
+1cc68426d733fcd1c5cfa1fab8a96726cbbc243b	[Thymus aplasia and hypoplasia with hypoparathyroidism, heart and @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+13b779f2cf901e55a9101761d6e0b52fd320449e	Children with recurrent bacterial infections or @DISEASE$ (LIP) had a survival time at least four times longer than those with Pneumocystis carinii pneumonia (PCP), mycobacteriosis, cytomegalovirus, @PHENOTYPICFEATURE$, or progressive multifocal leukoencephalopathy.	false
+17740c13c6293357ebd534ffbf3cb85620ec0ae7	Recombinant glycosylated erythropoietin (EPO) was biotinylated with biotin-aminocaproyl hydrazide via periodate-treated sialic acid moieties and applied to sections of 64 @PHENOTYPICFEATURE$ of the lower respiratory tract, comprising 19 primary adenocarcinomas, 19 epidermoid carcinomas, 13 large cell anaplastic carcinomas, 11 small cell lung carcinomas, 11 intrapulmonary metastases, 1 mesothelioma and 1 @DISEASE$.	false
+cbdf58d6b02e0b3d79277b04b9bb00c92710c450	These include the frequency and severity of acute chest infections, as well as the increased risk of pulmonary tuberculosis, aspiration, cardiovascular disease, @DISEASE$ or pulmonary @PHENOTYPICFEATURE$.	false
+e33c91d2b1d2587aef4984106c52c063ea56da38	Similar to pathogenic infections of humans and rhesus macaques, progression to AIDS in natural hosts is characterized by: CD4(+) T cell depletion in peripheral blood and intestine, opportunistic infections and @PHENOTYPICFEATURE$, severe weight loss, @DISEASE$, lymphoid tissue hypoplasia, and giant cell disease.	false
+fe60b4a2c17d2ae01f325b68679cfed51cdb8518	Focal or multifocal cavitary lesions include @PHENOTYPICFEATURE$ such as bronchogenic carcinomas and lymphomas, many types of infections or abscesses, immunologic disorders such as Wegener granulomatosis and rheumatoid nodule, pulmonary infarct, septic embolism, progressive massive fibrosis with pneumoconiosis, @DISEASE$, localized bronchiectasis, and some congenital lesions.	false
+e73bf4f29d61c2bc8caa85506064f3e6c22cca93	Ultrasonography can be used to transcervically visualize @DISEASE$ @PHENOTYPICFEATURE$ and provides clinically relevant characteristics that may not otherwise be appreciable.	false
+99d06fbdebd48b153189d4d7ac4314958a1622c0	A hospital-based @PHENOTYPICFEATURE$ registry was used to identify retrospectively patients with @DISEASE$ who were treated between 1996 and 2011.	false
+f9d3eabf2b4e9781323f2414dae4834e8e95bf9b	We hypothesized that ultrasound could be used to visualize and describe @DISEASE$ @PHENOTYPICFEATURE$.	false
+d8f2cdc589b8abf680293c3666de6b48bd9187be	67% of @DISEASE$ @PHENOTYPICFEATURE$ had a T4 cancer.	false
+46ea6ccd074525275a8846ffb5b13f2852cdaa7c	On ultrasound @DISEASE$ @PHENOTYPICFEATURE$ were hypoechoic (90.9%) with irregular margins (95.5%).	false
+7c277183179757e0465975137b5dd36ddb595f7a	100% of @DISEASE$ @PHENOTYPICFEATURE$ were visualized.	false
+4587e3b3b8b39691975c2e9b67e34e1f8e6574f3	The prognosis of @DISEASE$ @PHENOTYPICFEATURE$ was relatively poor.	false
+6e2f33a1970a380431e576a71fc13042e33913fe	The distinction between borderline ovarian @PHENOTYPICFEATURE$ (@DISEASE$) and ovarian carcinoma is made by histopathological assessment.	false
+47e232593343f835e43a7aed9bc3a4ab00b2e21b	Preoperative imaging characteristics and subjective radiologic examination of @DISEASE$ @PHENOTYPICFEATURE$ did not correlate with final margin status.	false
+168b847186595db51cf23a7afd85df4e0e28a7a4	Drinking history and @PHENOTYPICFEATURE$ stage were independent prognostic factors for @DISEASE$ cancers.	false
+8da56446ab423574b5bd189b354ce2f15d750080	Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (@DISEASE$ and @PHENOTYPICFEATURE$-jaw tumour syndrome).	false
+b5860b1f93c157dc41a6946569fe69ae097b2d30	In MEN-2A pheochromocytomas and parathyroid hyperplasia and in @DISEASE$ additional @PHENOTYPICFEATURE$ and ganglioneuromatosis may also be encountered.	false
+19380e074311a274010e27587dffdf216ac98256	The latter consists of the multiple endocrine neoplasia (MEN)-2A syndrome, which includes pheochromocytomas and @PHENOTYPICFEATURE$ in some families, and the @DISEASE$ syndrome, which consistently includes mucosal neuromas and somatic features.	false
+184ad57ca64b7cdfe67a650ba6306f122b1e465a	Syndrome of @DISEASE$, is a rare disturbance made by medullar carcinoma of the thyroid gland, pheochromacytoma and @PHENOTYPICFEATURE$.	false
+4ce340b4a51db8e0f82fc6d1cd49d90932f754c4	Expression profiles provide insights into early malignant potential and @PHENOTYPICFEATURE$ in @DISEASE$ syndrome tumors.	false
+12c8a12388f199ea27a3402577fbb176eb5c9cd8	Although the syndrome of @DISEASE$, is known to comprise mucosal ganglioneuromatosis, medullary thyroid carcinoma, pheochromocytoma and @PHENOTYPICFEATURE$, we wish to document the importance of the alimentary-tract components.	false
+fbc3d4893d2239d4c96a1ea34d3330839f096337	@DISEASE$ (MEN 2b), is comprised of medullary carcinoma of the thyroid, pheochromocytoma, diffuse ganglioneuromatosis of the gastrointestinal tract, and @PHENOTYPICFEATURE$.	false
+0bfe239f1266e3eee2f4b37573f0828795e055cb	Four had ascites, six had @DISEASE$ edema, and eight had peripheral signs of chronic liver disease in the form of palmar @PHENOTYPICFEATURE$, spider nevi, and/or gynecomastia.	false
+7c2845d553fadd17a17ed614c52237204b7dc1eb	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of seizure, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the @DISEASE$, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+5ec08ddf0fdecf9904dd0d88d17fb61ae8bb9b82	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of seizure, antibiotic use before @DISEASE$, and immunization status), PED management (antiepileptic drugs given in the PED or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+e64abf238595192adb908bd8bcb11c9504397d18	Charts were reviewed for demographics, clinical parameters (duration of fever, history of @PHENOTYPICFEATURE$, focality of seizure, antibiotic use before PED, and immunization status), PED management (antiepileptic drugs given in the @DISEASE$ or by Emergency Medical Services, empiric antibiotics given in the PED, laboratory testing, lumbar puncture, or computed tomography [CT] scan), and results (cultures, laboratories, or imaging).	false
+87a7cd84d44379e0d1d376484452ebd32a302fc2	Volumetric quantitative computed tomography (vQCT) facilitates the assessment of @DISEASE$ bone osteopenia, which, in the presence of @PHENOTYPICFEATURE$, may well be an early sign of diabetic foot deformity.	false
+90c0675a049e6e035ef9d85a1653082ba8277f42	We believe @DISEASE$ should be monitored in patients with @PHENOTYPICFEATURE$; nonambulatory patients with spina bifida and those with other risk factors are more likely to have low bone density for age than unaffected individuals.	false
+35ccc54276d1e3435127cf7f7570a4f56288ca04	We believe @DISEASE$ should be monitored in patients with spina bifida; nonambulatory patients with @PHENOTYPICFEATURE$ and those with other risk factors are more likely to have low bone density for age than unaffected individuals.	false
+cce67cb4262008df25a43be0ff08ad381186bc92	Femoral neck @DISEASE$ was related to age, weight, @PHENOTYPICFEATURE$ status, and specific disease activity scores.	false
+af7e443fe81ec301349145ae05bd92c26c173451	Thirty-nine percent of DMD boys and 12% of @DISEASE$ patients were classified as @PHENOTYPICFEATURE$.	false
+2f0994682fc28550b0a087b8cbb8c3684bdeb744	The level and severity of SCI and @PHENOTYPICFEATURE$ did not significantly affect @DISEASE$ values.	false
+8cecba094a31b616fe8319ca104249f1274ecba6	Lack of autonomous gait, @PHENOTYPICFEATURE$, long duration of antiepileptic treatment, topiramate adjunctive therapy, and less physical activity significantly correlated with abnormal @DISEASE$.	false
+f59a368c8ea3e698b771e0a53a3bfe063861ae45	A 33-year-old man with @DISEASE$ manifesting @PHENOTYPICFEATURE$ is reported.	false
+1dde8e705bf7d22ff960fad57c89365ee922e71f	The association between @DISEASE$ diagnoses and DSM-IV classification of @PHENOTYPICFEATURE$ approached significance (P = 0.063).	false
+894f8f373d16c6cd85ff09bc8310483782e848cb	[Four siblings with becker muscular dystrophy (@DISEASE$) manifesting @PHENOTYPICFEATURE$].	false
+f3df19e5401312e98991a14789d4b286365a493b	Patients who had lost total hip @DISEASE$ after 6 months showed a shorter survival than those who had not, but using Cox's regression, @PHENOTYPICFEATURE$, ascites, and nutritional parameters displaced BMD as prognostic factor.	false
+919b972a9d33960b0d7f94f550294aca72a55cc9	Patients who had lost total hip BMD after 6 months showed a shorter survival than those who had not, but using Cox's regression, @PHENOTYPICFEATURE$, ascites, and nutritional parameters displaced @DISEASE$ as prognostic factor.	false
+9b26f6a9020c2c1bc24560df28d91da2ae7a1f7f	After adjustment for femoral-neck @DISEASE$, neuromuscular @PHENOTYPICFEATURE$ speed, tandem walk--and poor vision remained significantly associated with an increased risk of subsequent hip fracture.	false
+3d081bc2931f20643f331585f4f3528ba7a5b388	[AIDS with inaugural @DISEASE$ @PHENOTYPICFEATURE$.	false
+f57a666147e1e319d28c34c3d240a674a6f5f5c0	Grade 3-4 hematological toxicity was limited to two patients and one patient developed Grade 4 @DISEASE$ jiroveci @PHENOTYPICFEATURE$.	false
+c02fb82676daa422fdade1d8fb69d241f36c0b8f	There were significantly higher incidence rates of BKV viruria, @DISEASE$ jiroveci @PHENOTYPICFEATURE$, and malignancy in the tourist group.	false
+4629f82c79d25b17e8ad2d03ced2258a57db16be	Other causes of the RHS include noninvasive fungal infections such as paracoccidioidomycosis, histoplasmosis, and @DISEASE$ jiroveci @PHENOTYPICFEATURE$.	false
+ea0af78d5924e5bd63e86085f81d566fdd68d3de	Most common pulmonary fungal infections include aspergillosis, cryptococcosis, and @DISEASE$ jiroveci @PHENOTYPICFEATURE$.	false
+c892abfd4ec665f6afbd7ba6910fb2c1924350d2	The most prevalent infections were bacterial pneumonia, oral candidiasis, varicella, tuberculosis, herpes zoster, and @DISEASE$ jiroveci @PHENOTYPICFEATURE$.	false
+8c58d7542e56926913e301454bd29e28f41f14e7	The reason for discontinuation was not the reactivation of infection, but disseminated tuberculosis, @DISEASE$ jiroveci pneumonia, and interstitial @PHENOTYPICFEATURE$, respectively.	false
+40cff98dec4aed5fe376940120df04d637a300d2	The reason for discontinuation was not the reactivation of infection, but disseminated tuberculosis, @DISEASE$ jiroveci @PHENOTYPICFEATURE$, and interstitial pneumonia, respectively.	false
+2f27eb02bf49c1dcb9475e3aa73f37a227951e98	No patient had @DISEASE$ jerovici @PHENOTYPICFEATURE$ or a complication of live viral vaccine.	false
+3174cfa9c5e315745f64033d337cc99cae5a4b9a	Three patients had Cytomegalovirus pneumonia, one had @DISEASE$ and one had candida @PHENOTYPICFEATURE$.	false
+d264f2a0a22da7def8d430b00915823743e13307	@DISEASE$ (plasma cell @PHENOTYPICFEATURE$); roentgenographic, pathologic and clinical correlation.	false
+a185d9dcb4367ae4b10aaf309a2734ad6a464b3a	@DISEASE$ (COD3) is a severe dominantly inherited @PHENOTYPICFEATURE$ caused by missense mutations in GUCA1A, the gene encoding Guanylate Cyclase Activating Protein 1 (GCAP1).	false
+12ff4db608386ce8799b78232ed6efd0c86ef8cd	Brain proton magnetic resonance spectroscopy and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0459360e4e3b8efb41a7311997d5b7d91bd449b9	@DISEASE$ in the neonate is commonly accompanied by facial diplegia, generalized muscular hypotonia, @PHENOTYPICFEATURE$, and muscular respiratory failure.	false
+bfb9c382bf4811137470ee50f394ba6ba1820af1	@DISEASE$ are typically associated with ocular complications like @PHENOTYPICFEATURE$, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.	false
+d6ee440386998c24cb3ad7a6b4047c6befdab8a8	Etiology of myogenic @PHENOTYPICFEATURE$ and extraocular muscle weakness was oculopharyngeal dystrophy in 4 (31%) patients, chronic progressive external ophthalmoplegia in 4 (31%) patients, @DISEASE$ in 2 (23%) patients, and idiopathic in 3 (15%) patients.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+2f642b62a3e843f130e5af005874ee6302986f89	In particular, @DISEASE$ (Curschmann-Steinert syndrome), also characterized by the presence of @PHENOTYPICFEATURE$ and a pathognomic star-shaped cataract, should be taken into account since a reticular dystrophy of the retinal pigment epithelium could be observed, resulting in a visual impairment of various degrees.	false
+bfe92009e3143e5c8eec21fbf8952c9e9625796d	Quantification of @PHENOTYPICFEATURE$ in patients with @DISEASE$ and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study.	false
+a1fea9942bc2ff5a074e8091cd7da0121ed07d7a	We compiled the results from studies covering the prevalent neurodegenerative diseases in the literature: Alzheimer's disease, amyotrophic lateral sclerosis, age-related macular degeneration, ataxia, dementia, @DISEASE$, epilepsy, @PHENOTYPICFEATURE$, Huntington's disease, multiple sclerosis, Parkinson's disease, and prion disorders.	false
+bee0dd0ef7daa2e9f973b40e4d6c81c1189998ca	The study of two families with @DISEASE$ enables us to recall the existence of two congenital forms: one severe form with important neonatal hypotonia and one mild form with @PHENOTYPICFEATURE$ and intellectual deficiency.	false
+fc434277ec0f24793c2cd94b1b60efd6a1079307	Treatment protocols have been established for the treatment of @PHENOTYPICFEATURE$ deformity commonly seen in the congenital form of @DISEASE$, as well as the progressive dropfoot gait more commonly seen in the adult form.	false
+e1055ed79f5ec1c54271d4cc5dc3b57aa6c2e820	@DISEASE$ (OMD) is an unusual macular dystrophy presenting with an essentially normal fundus and fluorescein angiography but with progressive central @PHENOTYPICFEATURE$.	false
+89883a21003c1cbb7c030b2cca004532083cf2ec	Occult macular dystrophy (@DISEASE$) is an unusual macular dystrophy presenting with an essentially normal fundus and fluorescein angiography but with progressive central @PHENOTYPICFEATURE$.	false
+c42d9778712201c245dbbb1f6da64912e32f3613	Macular degeneration with subtle funduscopic alterations, sometimes mimicking @DISEASE$, is an important cause of @PHENOTYPICFEATURE$ in SCA1 patients, which could be reliably detected with OCT and multifocal ERGs.	false
+8b3e54a40653b309a175c56e9f41cdaaaabb5d85	Progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or @DISEASE$ (PPAC) (MIM 208.230)) is an autosomal recessively inherited @PHENOTYPICFEATURE$ with changes in the spine similar to spondyloepiphyseal dysplasia tarda.	false
+b543d006c0ac44055d9709c137b5164382a8d8ef	@PHENOTYPICFEATURE$ are involved in the pathogenesis of acute exacerbations of @DISEASE$ (AE-IPF).	false
+bcb7bd0839b370b71cc0f3ec60d6f04d330c544f	The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (@DISEASE$), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (talipes equinovarus), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, congenital hydrocephalus, @PHENOTYPICFEATURE$, syndactyly, and cleft lip.	false
+92a5ac0f74b8842071431e45845b3c8c198e8273	For both groups the commonest malformation was ulnar @PHENOTYPICFEATURE$, followed by hydrocephaly and @DISEASE$.	false
+6668e3f4d7a16543f8184fbbd73229012464103e	@DISEASE$ in infants is also linked with the difficulty in breastfeeding difficulty, gagging, choking or @PHENOTYPICFEATURE$ food, delayed development or deterioration of speech and behavioral issues.	false
+14efe672783f9b78a0a39213d1a1c1fc3733d360	We report on three members of a Brazilian family with @DISEASE$ D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated @PHENOTYPICFEATURE$ and distal contractures.	false
+4049967e8e0ce8bdb628fc407d2cc7c10cca68e5	Germline mutations in the WNK4 gene originate @DISEASE$ or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and @PHENOTYPICFEATURE$.	false
+f65509c10a8643a041ab755cd5fef37dbb5967c2	Germline mutations in the WNK4 gene originate @DISEASE$ or pseudohypoaldosteronism type II, a familial form of hypertension with @PHENOTYPICFEATURE$ and hypercalciuria.	false
+3c797efb5571738bec4636a4bc6ee52a94fbbd47	@DISEASE$ secondary to @PHENOTYPICFEATURE$.	false
+760a1b4d588215d3dd038eeb1423c5bc90d83ef4	@DISEASE$ was the presenting symptom in two patients with aqueduct stenosis, @PHENOTYPICFEATURE$, and raised intracranial pressure.	false
+605efaa22a60c14c178eada402dc2dc6774fbf5f	Symptoms can include @PHENOTYPICFEATURE$, @DISEASE$ (severe facial pain), facial tics, headaches, double vision, and facial palsy.	false
+099fb55c1f21c4fb17a1f5985eb579bdfa955bc4	@DISEASE$, facial spasm, @PHENOTYPICFEATURE$, vertigo, and glossopharyngeal neuralgia are believed to be the symptoms complex of hyperactive dysfunction of the cranial nerve caused by vascular cross compression at the root entry (exit) zone of the appropriate nerve.	false
+a8f77798727b7b4bf309c38f33d057545776440b	@DISEASE$ associated with Chiari's malformation and associated @PHENOTYPICFEATURE$ are rare.	false
+fae40fc644c62162a949a2731538e5b997ecd80a	Neurologic manifestations include @DISEASE$ with associated @PHENOTYPICFEATURE$, hemifacial pain with associated migraine headaches, seizures, movement disorders, and neuropsychiatric symptoms.	false
+5e0d5760a14f41414b5813bcad2125bd5a33464a	Following the successful treatment of @DISEASE$ and hemi-facial spasm by liberation of the Vth and the VIIth nerve from the mechanical irritative lesion, frequently a vascular loop anomaly, it was postulated that the same cause could be responsible of @PHENOTYPICFEATURE$ and vertigo, secondary to irritation of the VIIIth nerve, in some cases.	false
+b1165ccf72029dc5d5dd26e476c5cc0733e16bfd	A review of the existing world literature searching (using PubMed, August 22, 2005) for key words 'multiple sclerosis' and multiple symptoms associated with MS including @DISEASE$, pain (pump and rhizotomy), spasticity, intrathecal pump, @PHENOTYPICFEATURE$ and stimulation (brain and spinal).	false
+93a760d8e989f0c090c093d99c34ca32d2dad853	Faciocardiorenal syndrome (FCRS), also named @DISEASE$, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, @PHENOTYPICFEATURE$, renal defects and mental retardation.	false
+5419b2eca536147273ebc502d8451862808d1447	@DISEASE$ (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, @PHENOTYPICFEATURE$, renal defects and mental retardation.	false
+0348c06c422fb8baf1d63ddc3ac6c8a0aa900af3	In the majority of @DISEASE$, LOH occurs at the genetic locus SNF5 (Ini1/BAF47/Smarcb1), which functions as a subunit of the SWI/SNF chromatin-remodeling complex and a tumor suppressor in familial and @PHENOTYPICFEATURE$ malignant rhabdoid tumors.	false
+dfe7b5b52ac5ec4630daacd7a9563e69441f890c	@DISEASE$ (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, @PHENOTYPICFEATURE$ and mental retardation.	false
+e7e21de45a08d16351837f56120cdaa1321da0ac	@DISEASE$ (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and @PHENOTYPICFEATURE$.	false
+a6410cd2f981a274092130f4aee524d228c56c1d	@DISEASE$ (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, @PHENOTYPICFEATURE$, and developmental delay in some cases.	false
+bbbf444c2c249667af7abd101731ce3a5f8fe0c9	@DISEASE$ (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, @PHENOTYPICFEATURE$ and, in some cases, mental retardation.	false
+1fc655c977fc6ec8a3e3fc66e9bc4f27553e61d6	@DISEASE$ is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, @PHENOTYPICFEATURE$, and intellectual disability.	false
+46e11f7900ae2f1af1ce02e44abc5c71ba251619	The novel metabolic profile has now been seen in many patients, most diagnosed with the @PHENOTYPICFEATURE$ @DISEASE$.	false
+0957a6c9941fa012b6280a1295360d7768ee3da4	The patient showed craniosynostosis, radio-ulnar synostosis and @PHENOTYPICFEATURE$ and had previously been diagnosed with @DISEASE$.	false
+eab436914db3961ce2492008b463cf9efe54128a	The @DISEASE$ (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, @PHENOTYPICFEATURE$, urogenital abnormalities and, often, early death.	false
+204d1ccc5cc67aab3d74052f0bd1595fdd221ca6	These include desmosterolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), hydrops-ectopic calcification-moth-eaten @PHENOTYPICFEATURE$ (HEM dysplasia), and some cases of @DISEASE$.	false
+4b138256a86936c11817ba7abc184873f8b8c3c0	Nevertheless, mutation of the human POR gene is compatible with life, causing multiple steroidogenic defects and a @PHENOTYPICFEATURE$ called @DISEASE$.	false
+b865844a1a7269a8f2cdb0c8382078118746533e	Patients with adrenal insufficiency, @PHENOTYPICFEATURE$ and bony malformations resembling the @DISEASE$ (a craniosynostosis syndrome), are likely to have P450 oxidoreductase (POR) deficiency.	false
+716ff88935f66e3cbf7eb03e7962b3b5e71a2eb4	The @DISEASE$ is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, @PHENOTYPICFEATURE$, arachnodactyly, and femoral bowing and fractures.	false
+b00cc693782edc4f3c3fd03776a4ae92aa1f50cd	Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, @DISEASE$, and normal eyes, and congenital muscular dystrophy with severe mental retardation and @PHENOTYPICFEATURE$ are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system.	false
+dc6ce2b8262a515b13097c45e5b96711eb279083	At 1 year, MR imaging of the brain showed abnormal increased periventricular T2-signal, consistent with dysmyelination as well as @DISEASE$ and several @PHENOTYPICFEATURE$.	false
+1838d2bd4eac244f4d3d6cc307c70547a2561d02	The most common ophthalmologic and radiologic abnormalities were cataracts, retinal detachment, periventricular white matter abnormalities, ventriculomegaly, @DISEASE$, and multiple @PHENOTYPICFEATURE$.	false
+8556f227051ef9bcc547cd42918c0ea3cf6d83c4	This genotype-phenotype correlation underscores the importance of SLC25A46 and fine tuning of mitochondrial fission and fusion in @DISEASE$ and central neurodevelopment in addition to optic and @PHENOTYPICFEATURE$ across the life span.	false
+407384d8131be99bd46007231da0decd8bc10f92	The deficiency of glucose-6-phosphatase (G6Pase) underlies life-threatening hypoglycemia and @PHENOTYPICFEATURE$ in @DISEASE$ (GSD-Ia).	false
+c40aedd917677d620031a461fa671c15df0ca918	@DISEASE$ (GSD-Ia) patients deficient in glucose-6-phosphatase-? (G6Pase-? or G6PC) manifest impaired glucose homeostasis characterized by fasting hypoglycemia, @PHENOTYPICFEATURE$, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+0b43db9f4f427f3c7f27521a33b27f9043e606c3	@PHENOTYPICFEATURE$ is one of the cardinal manifestations of @DISEASE$.	false
+2058b79328b1f5f1b0ea800e94d0178fd38cedcc	Continuous glucose monitoring in the treatment of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+99c72332551c6715f8acdb9d6ee4c189fde815c6	Glycogen storage disease type Ib has all the clinical manifestations of @DISEASE$ such as hepatomegaly, @PHENOTYPICFEATURE$, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia.	false
+fe880bf81b8ed13aed392c0d254483ffbf69be40	@DISEASE$ (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and @PHENOTYPICFEATURE$.	false
+388e7bb9af2cee481da98a0689c4bcea173c2090	Almost half of the patients with @DISEASE$ had @PHENOTYPICFEATURE$ and most had hyperlipidaemia.	false
+039ebdc5bc343416caf06494c29c43ca9f485715	A 20-year-old woman with @DISEASE$ was admitted to our endocrinology department because of @PHENOTYPICFEATURE$.	false
+b7409b21f3fa74bcc05a9e6c3dfc014c350406a5	@DISEASE$ (GSDIa) is an autosomal recessively inherited disease characterized by poor tolerance to fasting, @PHENOTYPICFEATURE$, and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	false
+c67f44772c6c26530cd8f0abb4355d2992686a34	Genetic deficiency of glucose-6-phosphatase (G6Pase) underlies @DISEASE$ (GSD-Ia, also known as von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia and @PHENOTYPICFEATURE$.	false
+75a9edd0aa0e223b3b42c04c67e26229aff7e5f6	We present a case of acute renal failure complicated by malignant hyperkalemia and @DISEASE$ @PHENOTYPICFEATURE$ cardiac arrest.	false
+6321e2a4321c5f467676e829bbdb6e8cd6b1a771	The subjects can have gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with @DISEASE$ @PHENOTYPICFEATURE$ and narrow lips; a low caries rate; drooling, and hypersalivation.	false
+38a88481ae6316df740ebc4e5c55ae207016b67c	Non-preschool teachers had significantly lower odds of @PHENOTYPICFEATURE$ and @DISEASE$ in their offspring (OR range: 0.53-0.76).	false
+e2a113076cba6d5d08c18c9cea37f86fce57eadc	Common congenital anomalies including hypospadias, cryptorchidism, anogenital distance (AGD), congenital heart defects and @PHENOTYPICFEATURE$ were well represented in the literature whereas other outcomes such as neural tube defects, limb deficiency defects and @DISEASE$ were rarely described.	false
+915825f720d9eafa48a8c820cadb3d296f7de44f	Common congenital anomalies including hypospadias, cryptorchidism, anogenital distance (AGD), @PHENOTYPICFEATURE$ and oral clefts were well represented in the literature whereas other outcomes such as neural tube defects, limb deficiency defects and @DISEASE$ were rarely described.	false
+426bba37eb20d2fc2c44fbffc8b85c8260426682	Enlarged vestibular aqueduct (@DISEASE$), known as the most common form of @PHENOTYPICFEATURE$, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner.	false
+2834766e1c9aebfe6a8d159b275af7fa24ccee74	The subjects can have gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with @DISEASE$ @PHENOTYPICFEATURE$ and narrow lips; a low-caries rate; drooling, and hypersalivation.	false
+1c701408b174c7f8149b6afc206b905704aec855	The hearing loss is associated with @PHENOTYPICFEATURE$, ranging from an isolated enlarged vestibular aqueduct (@DISEASE$) to a typical coclear dysplasia.	false
+71b3173acf01f17b331c6814af7b193b53153793	Alpha-cardiac actin mutations lead to @PHENOTYPICFEATURE$, cardiomyopathies and @DISEASE$ midline defects.	false
+180f804b600e2b247656942fcdacd49991c4555d	Deficiency leads to pain, @PHENOTYPICFEATURE$, and @DISEASE$ blindness.	false
+d99fc48caef88bfcabe5678a7618ad1d15b83663	detecting @PHENOTYPICFEATURE$ with @DISEASE$.	false
+7399c7397375c36573c014a31f685bd5ca6e9d74	In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, @PHENOTYPICFEATURE$, @DISEASE$ syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome.	false
+a24902039028641d20e566cb94524cf19f2b1137	The authors present the first report of @DISEASE$ with ocular manifestations in a patient with progressive bilateral @PHENOTYPICFEATURE$.	false
+ad881aed4edc19eede8a636fef8206c9c7990dba	Hypopituitarism may result due to direct causes like trauma, @PHENOTYPICFEATURE$, infection or it may be due to some vascular insult as seen in @DISEASE$.	false
+afb0bfe6efda377a23f66e3722e0c3cc6b1c889e	There were 10 patients with secondary amenorrhea due to hypothalamic dysfunction, eight with hypothalamic failure, eight with primary amenorrhea due to @PHENOTYPICFEATURE$, 19 with a prolactin-secreting pituitary adenoma, and four with @DISEASE$.	false
+3f5dbc933a8f52e9a530c7c6889ca33c63175933	This patient also had certain unusual features of @DISEASE$ like pancytopenia and @PHENOTYPICFEATURE$.	false
+dc636bf167ea9f0bce582aaa678420e83783c986	A total of 12 healthy persons and 20 patients with pituitary disorder were recruited, including 6 with @DISEASE$, 6 with idiopathic panhypopituitarism, 3 with isolated ACTH deficiency, 2 with pituitary apoplexy, 2 with empty sella syndrome and I with postoperative suprasellar @PHENOTYPICFEATURE$.	false
+609ed57d157a4684abffdf2aa29d4c5b8fe899b5	In addition to @PHENOTYPICFEATURE$, the anterior lobe of the pituitary may be the seat of two rare conditions (@DISEASE$ and lymphocytic hypophysitis) that afflict pregnant women predominantly.	false
+bb56ea8e74dd1220a9f5f7c6b34150de51293a66	Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with @PHENOTYPICFEATURE$), and the more severe @DISEASE$ disease, late infantile variant.	false
+99fb89b41c2cf900578c4c1afb60644e46b8995c	Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild @DISEASE$ disease, EPMR (progressive epilepsy with @PHENOTYPICFEATURE$), and the more severe CLN8 disease, late infantile variant.	false
+970fe38ee36ab833a9df806172f710839e8b5ef7	The study used a randomized equivalence design with @DISEASE$ or water beverages as the main factor in a trial among 303 weight-stable people with overweight and @PHENOTYPICFEATURE$.	false
+63c32e194e3e73938d2f3cf7ba170c3aaef0f941	Prevalence of overweight and @PHENOTYPICFEATURE$ was compared with that in the 1995 Australian National Nutrition Survey (@DISEASE$).	false
+cfb75732f90e6dfa2b18331b7ee42d5e9c086291	The phenotype of our proband is partially common with @DISEASE$ and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal @PHENOTYPICFEATURE$ and hypermetropia.	false
+2fee3c429370dba409b6f34ac359715fac802c95	Clinically, DM2 resembles adult-onset DM1, with myotonia, @PHENOTYPICFEATURE$, cataracts, diabetes, testicular failure, @DISEASE$, and cardiac conduction defects.	false
+a62b5bc3c0622c171cb327cbdc5281a4b989131b	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including @PHENOTYPICFEATURE$, ED, cleft palate, ectrodactyly, syndactyly, additional @DISEASE$, and growth delay.	false
+e6bfdb828928cc48091d1c09e231c235eedb8ae7	It has been described in association with HIV infection, autoimmune disorders, policlonal @PHENOTYPICFEATURE$ and less frequently, with @DISEASE$.	false
+7b41ec34f4edd65cffeee7c359c844a6b7943668	Ten patients had @PHENOTYPICFEATURE$; one had @DISEASE$.	false
+c4c9ebc9537a25bace5fc1d9c481033a336ac773	Laboratory examinations revealed hyponatremia, @PHENOTYPICFEATURE$, hypoproteinemia, @DISEASE$, elevated plasma renin activity and hyperaldosteronemia.	false
+f4478ea67d7842d1db20d7e47631a6e3f2c9bff8	[A case of rheumatoid arthritis complicated with prolonged pneumonia and @PHENOTYPICFEATURE$ possibly caused by gold sodium thiomalate-induced @DISEASE$].	false
+7fd3f68355f7d3c492bb2d1b607b73338defa972	None of the study infants had persistent @DISEASE$ or @PHENOTYPICFEATURE$.	false
+10318467cc4fa637e025da666168001b92d48064	Nocardia brasiliensis @PHENOTYPICFEATURE$ were diagnosed in three patients (two with @DISEASE$ and one with lymphocutaneous syndrome) in our hospital during the last 6 years.	false
+bf6c347bd0764d4406f529ecbd96357dc52614bb	@PHENOTYPICFEATURE$ cancer and @DISEASE$ were associated diseases in more than 60% of the patients.	false
+44ab5bcf7e4fe0af6f466e4ece20e9e18a74764e	Reports of human disease caused by this organism are rare but include: endocarditis, brain abscess, @PHENOTYPICFEATURE$, onychomycosis, keratitis, pneumonia, disseminated disease, @DISEASE$, allergic bronchopulmonary disease, and one case of sinusitis.	false
+f4dad0d91e025b8d79d0d378a8918aeaaee3cc9f	Histological examination revealed pancreatic @DISEASE$ and no @PHENOTYPICFEATURE$ lesion.	false
+d532ca561c562dbdf3048e02c62e8b46694bd5b2	The concentrations of 7B2 in pancreatic islet @PHENOTYPICFEATURE$ and in @DISEASE$ were investigated also.	false
+88fb5ce84d4aea888e161887b0cb788d423aeee1	The occurrence in a neonate of a pancreatic adenoma with @DISEASE$ in the @PHENOTYPICFEATURE$.	false
+3d9028d62698bbd453487852a0fbc1d335243d78	After classification of the endocrine @PHENOTYPICFEATURE$ of the pancreas our group of patients during the last 17 years is demonstrated including patients with @DISEASE$ in every case except one with islet cell carcinoma.	false
+3526e3354399bf5fa621823b6705829f91d46b14	Patients with @DISEASE$ or multiple @PHENOTYPICFEATURE$ underwent pancreatic resections alone or in combination with enucleations.	false
+bec8888be94a8208c031a738d26036adbeece9de	A high incidence of elevated IR-7B2 concentration in pancreatic islet @PHENOTYPICFEATURE$ and nesidioblastosis was found (10 of 12 insulinomas, 5 of 8 glucagonomas, and in all 3 pancreases with @DISEASE$).	false
+894153a94ada4b663e04947612fdc9ea3c44f3ca	A high incidence of elevated IR-7B2 concentration in pancreatic islet @PHENOTYPICFEATURE$ and @DISEASE$ was found (10 of 12 insulinomas, 5 of 8 glucagonomas, and in all 3 pancreases with nesidioblastosis).	false
+2399280df49e8210867ff0c0193af0275b0d99ed	Well-differentiated neuroendocrine @PHENOTYPICFEATURE$ with benign behaviour (including four patients with @DISEASE$) were diagnosed in 53 patients (79%), tumours with uncertain behaviour in nine patients (13%) and well-differentiated neuroendocrine carcinomas in five (8%).	false
+50207b83c0f56523041b97cea8398b73cd9cd7ad	Well-differentiated neuroendocrine tumours with benign behaviour (including four patients with @DISEASE$) were diagnosed in 53 patients (79%), @PHENOTYPICFEATURE$ with uncertain behaviour in nine patients (13%) and well-differentiated neuroendocrine carcinomas in five (8%).	false
+f71d6cfd8af3d852646a25e428a153099fa00c7a	Seven patients had malignant tumors and another eight had multiple @PHENOTYPICFEATURE$ (including two with multiple endocrine neoplasia type 1 (MEN-1)), and three had @DISEASE$.	false
+4511212214eeac0a5cd7f414468b6a17714eef28	Throughout the @PHENOTYPICFEATURE$, areas of @DISEASE$ were identified.	false
+73cb5210e1ae16cefaed30bce79a57a8250e476f	Coexistence of @DISEASE$ with a neuroendocrine @PHENOTYPICFEATURE$ makes preoperative diagnosis and management of severe hypoglycaemia more difficult.	false
+284e9d15c8c75be195aa920870db566656b2e5dd	A rare association of @DISEASE$ (hypersensitivity vasculitis) and hypersensitivity @PHENOTYPICFEATURE$ (extrinsic allergic alveolitis) in a pigeon breeder - case report and literature review.	false
+3620570cc7afdbfc90188cb919042c263e1cf3e2	Combined with clinical data, 26 (15.0%) cases of DiGeorge syndrome (OMIM #188400), nine (5.2%) autoimmune polyglandular syndrome type 1 (OMIM #240300), eight (4.6%) @DISEASE$ (OMIM #601198), four (2.3%) hypoparathyroidism-@PHENOTYPICFEATURE$-renal dysplasia syndrome (OMIM #146255), and one (0.6%) Kenny-Caffey syndrome type 2 (OMIM #127000) were verified.	false
+07adf6b81e2618bc9be4c460b6b4abe776819579	One of these clinical biomarkers, @PHENOTYPICFEATURE$, has been proposed as a prognostic factor for @DISEASE$ development.	false
+b0a632b96751956f04b6500c55ab99c1ccfbbd7b	In this study we found @DISEASE$ (OPG) in 10%, @PHENOTYPICFEATURE$ in 36%, hydrocephalus in 5%, retardation in 14%, brain tumours in 5%, kyphoscoliosis in 13%.	false
+206d30c90f87f17aed97834fba0127a183d711fd	Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (happy puppet) syndrome; a terminal deletion of 17p13.3 in most patients examined with the Miller-Dieker syndrome; an interstitial deletion of 8q23.3/24.1 in a large majority of patients with the Giedion-@DISEASE$; an interstitial deletion of 11p13 in virtually all patients with the WAGR (Wilms' @PHENOTYPICFEATURE$-aniridia-gonadoblastoma-retardation) syndrome; and an interstitial deletion in 22q11 in about one third of patients with the DiGeorge sequence.	false
+2c1f182dbfdb088397b0b4f1407e9570071a471a	@DISEASE$ (CPVT) is a rare inherited @PHENOTYPICFEATURE$ syndrome.	false
+40cf0667f9ecde02b1cb99f7f91b0b47bfc72b70	@DISEASE$ (CPVT) is an @PHENOTYPICFEATURE$ syndrome characterized by adrenaline induced ventricular tachycardia.	false
+6fd0c6fafa845d63e7f72d2f9c4c6eeda5f546fe	@DISEASE$ (CPVT) is often a life-threatening @PHENOTYPICFEATURE$ disorder with variable penetrance and expressivity.	false
+495720cf3fc974876f783c69f8cd9f11a2b47645	@DISEASE$ is a familial @PHENOTYPICFEATURE$ that is related to RYR2 or CASQ2 gene mutation.	false
+fee3d1ba34b90fd07a7729cf6b31e29f7896b807	@DISEASE$ (CPVT) is a highly lethal @PHENOTYPICFEATURE$ disease occurring during exercise or psychological stress.	false
+52922bb5f094eafbac1b62f00dbcb6b2a37e68a5	@DISEASE$ (CPVT) is a type of @PHENOTYPICFEATURE$ that occurs in people with a structurally normal heart.	false
+51f3d748ae835d109688c52d15a8e978b6d3818e	@DISEASE$ (CPVT) is a lethal inherited @PHENOTYPICFEATURE$ syndrome characterized by adrenergically stimulated ventricular tachycardia.	false
+bde17ea6c4059d8444c5ebf6a8c357c5f1d678e3	@DISEASE$ (CPVT) is a rare but potentially lethal inherited @PHENOTYPICFEATURE$ syndrome induced by adrenergic stress.	false
+6b3a12f9e23de7e6ef432c78c589b75e50ea7a77	@DISEASE$ (CPVT) is a rare malignant @PHENOTYPICFEATURE$, usually diagnosed in the adolescent years.	false
+7d201adadf2ce5325a112141ea3a9e3469d9a039	@DISEASE$ (CPVT) is a familial @PHENOTYPICFEATURE$ that is related to RYR2 or CASQ2 gene mutation.	false
+b4a4ea39a58d94f0dce95d22e6da49619c35c5a5	The family is unique because the set of otologic anomalies in five generations was associated with @PHENOTYPICFEATURE$ in one of the affected members, suggesting that this oto-renal (OR) syndrome may represent a variable expression of the branchio-oto-renal (@DISEASE$) syndrome.	false
+3abdc8032e3003ef22a8cdf3a629c458d29cd9f3	Indications included @DISEASE$, recurrent corneal erosion syndrome, Salzmann nodular degeneration, band keratopathy, and suspected ocular surface @PHENOTYPICFEATURE$.	false
+5d4e1b7e210962be8869234532f974d702418cbb	Sonographic applications to osteomyelitis, myositis ossificans, tropic pyomyositis, child abuse, synovitis, and slipped capital femoral epiphyses; MR imaging (including gadolinium-enhanced MR scans) in osteomyelitis, the normal and abnormal physis, physeal bars, normal marrow, Gaucher disease, cancer, @DISEASE$, myositis, tenosynovitis, arthritis, and @PHENOTYPICFEATURE$; nuclear imaging in osteomyelitis, tibia valga, limp, and unexplained lower extremity pain; and CT in osteomyelitis, are reviewed.	false
+7b1b89002360489da628385542c441a6f6fa9c3f	Idiopathic @DISEASE$, characterized by @PHENOTYPICFEATURE$, is commonly treated by performing intracytoplasmic sperm injection (ICSI) with sperm retrieved from testicular biopsies.	false
+90e350665153f7680a7c1de22b98800bc2af5825	Our patient was a 35-year-old male with mild dysmorphic features, hypernasal voice, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+92ba84b573dc5ac30276ae60b0020aa92ff41c68	A Polled Hereford bull with good libido displayed gross @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ff96d5e4f7d67e9d06458af63991fc5de6863cb0	By contrast it was considered unlikely that the cats with chromosomal abnormalities, @PHENOTYPICFEATURE$, diphallos, retrograde ejaculation, teratozoospermia and @DISEASE$ would be able to produce offspring.	false
+de0228dd4fbad45e3a9b3f9ac4cb2fffda0ef00b	We detected six sibs afflicted with a unique combination of digit malformation that includes @PHENOTYPICFEATURE$, symphalangism and zygodactyly plus infertility in males owing to @DISEASE$, sperm immotility or necrospermia, which we hypothesised to have arisen from a defect in a single gene.	false
+6834252b3e18be7adb5329de648422f5d02e0066	An adult male presented with @PHENOTYPICFEATURE$, peripheral neuropathy, hearing loss, and @DISEASE$.	false
+d57fee95376db10b6fa11d595ade0a6397bb390c	The study of a distinct group of renal phosphate wasting disorders with bone disease which comprise X-linked hypophosphatemic rickets (XLH), @DISEASE$ (ADHR) and @PHENOTYPICFEATURE$-induced osteomalacia (TIO) gave rise to the identification of different hormone-like peptides, also known as phosphatonins.	false
+09ba063621382741b91e08b41b5e15fa93172871	FGF23 was discovered as the humoral factor in @PHENOTYPICFEATURE$ that causes hypophosphatemia and osteomalacia and through the identification of a mutant form of FGF23 that leads to @DISEASE$ (ADHR), a rare genetic disorder.	false
+babae5a49169a9cd773d92f9e1fde9a68bde16b0	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked @DISEASE$ hypophosphatemic rickets, autosomal recessive hypophosphatemia and @PHENOTYPICFEATURE$ calcinosis.	false
+4f9f1a104533fdd80eafa8ce945f72a3fbd25386	Phosphatonins have been associated with hypophosphatemic diseases, such as tumor-induced osteomalacia, X-linked @DISEASE$ hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets and hyperphosphatemic disease (e.g., @PHENOTYPICFEATURE$ calcinosis).	false
+4be935363988c6949816550943cb552af614bffe	In addition, FGF23 was shown to be involved in the development of several diseases including @DISEASE$/osteomalacia (ADHR), X-linked hypophosphatemic rickets/osteomalacia (XLH) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia (TIO).	false
+f247fe98d5ee20b183b1b99bd8ead47b495a54be	The @DISEASE$ (ADHR) gene is a secreted polypeptide overexpressed by @PHENOTYPICFEATURE$ that cause phosphate wasting.	false
+57a5e05f8790abf42b2c6b4c13bd8e6fc7ee1dfd	Three hypophosphatemic diseases, X-linked dominant hypophosphatemic rickets/osteomalacia (XLH), @DISEASE$/osteomalacia (ADHR) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia (TIO), show very similar clinical features including hypophosphatemia due to renal phosphate wasting.	false
+9597367a777f8b170000f041b9ba8ead2ab673cd	Studies of patients with @PHENOTYPICFEATURE$ associated with osteomalacia (tumor-induced osteomalacia), X-linked hypophosphatemia (XLH) and @DISEASE$ have provided important new insights into the identity and mechanisms of action of factors that play a role in controlling renal phosphate excretion and serum phosphate concentrations.	false
+8c837432da1b0f6027b2a1a9dd8b9cfcb987c42c	X-linked hypophosphatemic rickets/osteomalacia(XLH), @DISEASE$/osteomalacia(ADHR) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia(TIO) share common clinical features including impaired proximal tubular phosphate reabsorption.	false
+07f6f5ae6c3491f7e5248bbc52f459fefcacb2a1	Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause @DISEASE$ and seven substitutions to cause autosomal recessive hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis (HFTC).	false
+0e0022a9d0fb9166ebf257e6095c96e9834f5ba6	The patients had various autoimmune disturbances: persistent neutropenia, @DISEASE$, pure red-cell aplasia, Hashimoto's thyroiditis, sicca syndrome, systemic lupus erythemathosus, systemic @PHENOTYPICFEATURE$.	false
+58f3267a41974f63975f00b9b96f176f1610eb94	Five (5.4%) patients were diagnosed with @PHENOTYPICFEATURE$ manifestations, six (6.5%) with vitiligo, six (6.5%) with autoimmune hemolytic anemia (AIHA), six (6.5%) with @DISEASE$, three (3.3%) with mild leucopenia, two (2.2%) with aplastic anemia, two (2.2%) (one boy, one girl) with autoimmune thyroid disease, and one (1.1%) with autoimmune hepatitis.	false
+d475f2699c884a403a2c7c5a98686c99acb46d1b	Laparoscopic splenectomy is effective and technically feasible for treating various hematological diseases such as @DISEASE$ (ITP), congenital @PHENOTYPICFEATURE$, hemolytic anemia, and Hodgkin's lymphoma.	false
+44d05d543de9ca275f4d07c0481d1c28b553d0c9	The change in the volume and structure of the various components of the red pulp were studied in 60 controls and in cases of traumatic rupture, @DISEASE$, aplastic anaemia, autoimmune haemolytic anaemia, congenital @PHENOTYPICFEATURE$, splenic congestion, and Hodgkin's disease.	false
+d76f5c7ad0e5939b8a3a5dcd10181d08efdfe8c9	Indications for surgery included @DISEASE$, congenital @PHENOTYPICFEATURE$, and hemolytic anemia.	false
+650237255e1f382a553f6c50ac0f47968793fa3a	They both presented with severe psychomotor delay, @PHENOTYPICFEATURE$, no speech, microcephaly, feeding problems with frequent regurgitation, @DISEASE$, obesity, deep set eyes, down turned corners of the mouth, dysplastic ears, and small chin.	false
+0a1ebd723d8f3cde7cd568a7362703a9a0a60498	[A case of lung cancer combined with ocular @PHENOTYPICFEATURE$ and @DISEASE$ which was presumed to be caused by heart catheterization].	false
+07a00a053a6b139a2d0afdb1346c8ebe4c4a7c6a	X-linked juvenile retinoschisis (@DISEASE$, MIM 312700) is a common early onset @PHENOTYPICFEATURE$ in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG).	false
+0209ba1fa04edfec6766f3ff1adcfddbe6dfd850	@DISEASE$ (XLRS, MIM 312700) is a common early onset @PHENOTYPICFEATURE$ in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG).	false
+7d90078f69a1ea06458af4d05c5daa1268ae84b8	In young males, loss-of-function mutations in the X-linked retinoschisis gene (RS1) cause @DISEASE$, a form of progressive @PHENOTYPICFEATURE$.	false
+d5d981c1fa0a2de0390b3df216c2bb95138ff73c	X-Linked Retinoschisis (@DISEASE$) is a common genetically determined form of @PHENOTYPICFEATURE$ affecting young males.	false
+8b74fa2123bcababa6cfcc2455cf713903b745fa	X-linked juvenile retinoschisis (@DISEASE$), a leading cause of juvenile @PHENOTYPICFEATURE$, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina.	false
+309b8653151babbd63aa29a6518142fe2b246d95	@DISEASE$ (XLRS), a leading cause of juvenile @PHENOTYPICFEATURE$, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina.	false
+8b74fa2123bcababa6cfcc2455cf713903b745fa	X-linked juvenile retinoschisis (@DISEASE$), a leading cause of juvenile @PHENOTYPICFEATURE$, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina.	false
+309b8653151babbd63aa29a6518142fe2b246d95	@DISEASE$ (XLRS), a leading cause of juvenile @PHENOTYPICFEATURE$, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina.	false
+7a529fbbb02c21347af792d0822e4be9dfeade3c	The disorders studied included congenital stationary nightblindness, @DISEASE$, hereditary dominant optic atrophy, @PHENOTYPICFEATURE$ found in association with neurofibromatosis, retinitis pigmentosa, choroideremia, and an acquired diffuse photoreceptor disorder, all of which involve pathologic changes that are presumed to occur primarily at specific levels of the retina.	false
+7bac27f0ca55adeb1cb0b6fba7c28d9ba3ee75d1	The disorders studied included congenital stationary nightblindness, @DISEASE$, hereditary dominant @PHENOTYPICFEATURE$, optic atrophy found in association with neurofibromatosis, retinitis pigmentosa, choroideremia, and an acquired diffuse photoreceptor disorder, all of which involve pathologic changes that are presumed to occur primarily at specific levels of the retina.	false
+44f63faa1f37379cb403b69284d292a22d0bcb6d	Over 125 different mutations in the RS1 gene are associated with @DISEASE$, the most common form of early onset @PHENOTYPICFEATURE$ in males.	false
+2c8a9561f8aff9a1a7cbecf4bda77e67fed18f41	First molecular evidence for a de novo @PHENOTYPICFEATURE$ in RS1 (XLRS1) associated with @DISEASE$.	false
+b4d5f1309ff37ea3250a939c95a2de38c51f8370	Contrast sensitivity and contrast discrimination were evaluated in six males with X-linked retinoschisis (@DISEASE$), a form of early-onset @PHENOTYPICFEATURE$, using testing paradigms designed to favor either the magnocellular (MC) or parvocellular (PC) pathway.	false
+c735ed9d1d0003dd245af55d93bc894cb424c3fd	Contrast sensitivity and contrast discrimination were evaluated in six males with @DISEASE$ (XLRS), a form of early-onset @PHENOTYPICFEATURE$, using testing paradigms designed to favor either the magnocellular (MC) or parvocellular (PC) pathway.	false
+ff9d3cfa4ce9cd4eeb65da18b79364022e675c7f	@DISEASE$ is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and @PHENOTYPICFEATURE$ (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2.	false
+f045842c355b8cc55000e011c67cd5e434975e3a	Because patients were excluded who had significant @PHENOTYPICFEATURE$ and/or dementia severe enough to require institutionalization, the reported findings are presumed to be early changes in the development of an @DISEASE$ encephalopathy.	false
+f14651d4cc8b0cb4f346f1392af2f2234ef34df6	@DISEASE$ @PHENOTYPICFEATURE$ and sexual abdication among women: examining the moderating effect of child sexual abuse.	false
+cff409f28650c9d26f06a938db33cd1f2b85303a	Weekly @DISEASE$ consumption, @PHENOTYPICFEATURE$, and white matter hyperintensities in a community-based sample aged 60 to 64 years.	false
+370f1e8d9dc1ec1c3d61f25300448c6c0ff56311	The study thus confirmed the existence of a generalized @DISEASE$ @PHENOTYPICFEATURE$.	false
+fc6518bdd76c2ae8880145617e44fb5cf85c8556	Polymorphism of tumor necrosis factor-beta and alcohol dehydrogenase genes and @DISEASE$ @PHENOTYPICFEATURE$ in Japanese patients.	false
+1a6fd4f3c16ea8c51612f546b2641537ef026e5a	Two main differences, in estimates for @PHENOTYPICFEATURE$ and @DISEASE$ syndrome, may have resulted from problems with the new survey.	false
+e07e4778b9489699798e69ed88077fe9f21a5138	Association of restriction fragment-length polymorphisms in the alcohol dehydrogenase 2 gene with @DISEASE$ @PHENOTYPICFEATURE$.	false
+9d2c64b7498beaaf3651a10a9eb3f710893c1ba8	Therapeutic lifestyle changes, such as reduced dietary sodium intake, @PHENOTYPICFEATURE$, regular aerobic activity, and moderation of @DISEASE$ consumption, have been shown to benefit elderly patients with hypertension.	false
+98a8d467940705efa8aef3106fe1ca89d112b289	These findings suggest that the TNFB1 allele may be associated with @DISEASE$ @PHENOTYPICFEATURE$.	false
+692a7737d1a83fafd8d1d5ed4147b9e36ad63329	These findings suggest that the ADH2(1) allele may be associated with @DISEASE$ @PHENOTYPICFEATURE$.	false
+f4970d75ace10257fd1eb382cd1121e55141798c	CD47 deficiency results in lethal @DISEASE$ (AIHA) and mild spontaneous @PHENOTYPICFEATURE$ in non-obese diabetic mice.	false
+b9093ad5c666cce0c5d10821305107f177d4e478	Although the frequency of PSC was low (1/17) in @DISEASE$ patients on costicosteroid therapy, these individuals should undergo occasional ophthalmological assessment for the presence of @PHENOTYPICFEATURE$ since their visual acuity and quality of life may be adversely affected.	false
+58ab27ee29e39ce8b60652f94203d3fc4e2839dc	We herein report a 5-year-old boy who developed unexpected agranulocytosis with fever approximately one week after recovering from the typical symptoms of @DISEASE$, characterized by fever, rash, lymphadenopathy, and hepatitis, but lacking @PHENOTYPICFEATURE$ or lymphocytosis.	false
+1d4bd0bf57211501578b2b2ddd929e91b51e5fdb	He received prednisolone with amelioration of the renal disorder, but consulted again some months later because of fever, marked @PHENOTYPICFEATURE$, generalized enlargement of superficial lymph nodes, @DISEASE$ and polyclonal hypergammaglobulinemia.	false
+7229c5edf566a13a034e0f03c4232061bc2a72d8	Early vitrectomy and intravitreal injection of vancomycin may improve visual outcomes, but infection with @DISEASE$ may be associated with @PHENOTYPICFEATURE$ surgery wound failure and poor visual outcomes.	false
+af8f307f269e21d29f775356168d0919e5eaa658	Early vitrectomy and intravitreal injection of vancomycin may improve visual outcomes, but infection with @DISEASE$ may be associated with cataract surgery wound failure and @PHENOTYPICFEATURE$ outcomes.	false
+05dbf0e77f067e5a9e39711a49a87a4617a3f639	@DISEASE$ infection appeared to be associated with wound failure from the initial cataract surgery and a @PHENOTYPICFEATURE$ outcome.	false
+1cd58b35ccbd12d93d82fe51dd21496b4c46f9cd	A 24 year old female with a 4 year history of @PHENOTYPICFEATURE$ and absolute lymphocytosis was evaluated and found to have T cell large granular lymphocyte (T-LGL) leukemia associated with @DISEASE$, neutropenia, mild thrombocytopenia and splenomegaly.	false
+5fc793e5624808775fc30af711709ad7c7395b86	Patients with @DISEASE$ at any time could be distinguished from patients with other causes of @PHENOTYPICFEATURE$, because they were more likely to have elevated titers of IgG anticardiolipin antibodies [odds ratio (OR) = 5.8; 95% confidence interval (CI), 1.4 to 24] and thrombosis (OR = 4.6; 95% CI, 1.0 to 21).	false
+4f132629a6dfca240a5eb781883df9b0f0286ca2	Meanwhile, the cause of the deep @PHENOTYPICFEATURE$ was investigated and @DISEASE$ was ascertained by means of increased reticulocyte count and positive Coombs test.	false
+8142b1e45503a3fbf33efcd78fe91a5353d52263	Hypoxemia measurements were compared between sleepy (ESSS ? 10) and nonsleepy (ESSS<10) patients before and after dichotomizing the cohort for each @PHENOTYPICFEATURE$ variable (and for @DISEASE$) such that there were 35 (165) patients in each of the corresponding higher (lower) subcohorts.	false
+3c81b2b12b04464c303a156cc61032de07ebca1a	We report on a Japanese boy with @DISEASE$ who had short stature, bilateral cryptorchidism, poor pubertal development, mild mental retardation, complex cardiac lesions consisting of hypertrophic cardiomyopathy, mitral valve stenosis and insufficiency, subvalvular aortic stenosis, and single coronary artery, and various dysmorphic features including hypertelorism, epicanthic folds, low set malrotated ears, high arched palate, micrognathia, webbed neck, low posterior hairline, shield chest, pectus excavatum, cubitus valgus, borderline short metatarsals, lymphedema, redundant skin, and @PHENOTYPICFEATURE$.	false
+8358eea0bd90841c46cd8c874b69851fee0386b7	Other malformations included: subcortical @PHENOTYPICFEATURE$ associated with neurofibromatosis type 1, craniofacial dysmorphism secondary to @DISEASE$, congenital occipital plagiocephaly, os odontoideum, craniofacial cleft, juvenile rheumathoid arthritis with platybasia, and osteogenesis imperfecta with bathrocephaly and scoliosis.	false
+5ac0c8398fd9ce850242a0b1763bb862e8cb34ae	The final logistic regression model indicated depression was the most significant risk factor for @DISEASE$ followed by body mass index, age, typical sleep duration, diabetes, smoking, and finally @PHENOTYPICFEATURE$.	false
+141e091ba2f56939a9d52cf98ea525264874138d	The majority of patients in the MSLT group with long sleep latencies were in the diagnostic groups of @DISEASE$ associated with psychophysiological and/or psychiatric problems or with drug abuse; patients with a diagnosis of idiopathic central nervous system @PHENOTYPICFEATURE$ or EDS associated with disturbed nocturnal sleep formed the majority of the MSLT group with short sleep latencies.	false
+3700812acd0ab21302c1869e0db577469db18219	The majority of patients in the MSLT group with long sleep latencies were in the diagnostic groups of EDS associated with psychophysiological and/or psychiatric problems or with drug abuse; patients with a diagnosis of idiopathic central nervous system @PHENOTYPICFEATURE$ or @DISEASE$ associated with disturbed nocturnal sleep formed the majority of the MSLT group with short sleep latencies.	false
+cf1a6338edf939f7f966ca5f7f39c664a2592af7	Hemodynamics of postpacing ischemia (PPi) were consistently characterized by systolic impairment including depressed systolic contractile performance [(+)dP/dtmax 1,281 +/- 442 vs. control 2,173 +/- 775 mm Hg/sec, p less than 0.05], @PHENOTYPICFEATURE$ (left ventricular [LV] end-diastolic dimension [@DISEASE$] 47.6 +/- 7.8 vs. control 44.7 +/- 8.6 mm, p less than 0.05), and an increase in LV end-diastolic pressure (EDP) (14.4 +/- 2.8 vs. control 4.2 +/- 2.8 mm Hg, p less than 0.05).	false
+6cdfe56a154c2509ef56c980ed6661a42556b109	There are four major causes of @DISEASE$: (1) central nervous system (CNS) pathologic abnormalities, such as narcolepsy and idiopathic CNS @PHENOTYPICFEATURE$; (2) qualitative or quantitative sleep deficiencies, such as sleep apnea and insufficient nocturnal sleep; (3) misalignments of the body's circadian pacemaker with the environment (eg.	false
+8ef1134c45be429d79a5c56663a128cc2291e862	In the present study, we aimed at elucidating the genetic basis of a new form of @DISEASE$ featuring facial dysmorphism, @PHENOTYPICFEATURE$ and hypodontia.	false
+db324ac514d21fc9e77cba08ccb389e612457a9b	In addition, SLRP-deficient mice develop a wide array of diseases (osteoporosis, osteoarthritis, @PHENOTYPICFEATURE$, @DISEASE$, and corneal diseases), most of them resulting primarily from an abnormal collagen fibrillogenesis.	false
+d5fc4599cc64fa2b759c468a7792b4321d0962e2	Of the remaining 99 tracheal intubations, the @DISEASE$ correctly indicated tracheal placement in 98 (sensitivity, 99%) and was indeterminate in 1 case because of blockage of the ETT by secretions resulting from @PHENOTYPICFEATURE$.	false
+e5f271dbe82344279442cc33181884fc4721526b	Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile @PHENOTYPICFEATURE$, whose clinical picture allowed us to suspect a diagnosis of @DISEASE$.	false
+cbb032ff03ae7497dcebe0d071e8821503ca5d42	Our results support the notion that bi-allelic recessive loss-of-function effects of FIGLA contribute to @DISEASE$ patients with @PHENOTYPICFEATURE$ and expand the FIGLA-related phenotypic spectrum.	false
+eb4378f3606aa3156fa11c5e40a969d6bb7bd83b	Women with primary ovarian insufficiency (@DISEASE$)/premature ovarian failure exhibit @PHENOTYPICFEATURE$ due to follicle dysfunction and depletion before the age of 40 years.	false
+9beea63bc86ba726741bddc3432720c5a0cf47dc	@DISEASE$ and common variable @PHENOTYPICFEATURE$ in a patient with asthma.	false
+7741b3b69772651c2e0d5139785a0722c0814f55	The underlying diseases motivating IVIG infusion were neurologic diseases in 35% of cases (Guillain Barre syndrome = 2, @PHENOTYPICFEATURE$ = 2, neurolupus = 1, myasthenia = 1), multiple myeloma with hypogammaglobulinemia (n = 2; 12%), primary hypogammaglobulinemia (n = 2; 12%), autoimmune cytopenias (n = 2; 12%), graft versus host cutaneous disease after allogeneic hematopoietic stem cell transplantation for acute myeloid leukaemia (n = 1), anti-HLA antibodies after lung transplant (n = 1), cancer-associated @DISEASE$-haemolytic uremic syndrome (n = 1), Kawasaki disease (n = 1) and in experimental essay (n = 1).	false
+a12f72bc684b7d6ce10bea58e084cf9e27dba8fd	@DISEASE$ is a rare congenital sporadic neuro-ectodermic disorder, characterized by the presence of epidermal nevi in association with various developmental @PHENOTYPICFEATURE$, eyes, nervous, skeletal, cardiovascular and urogenital systems.	false
+3809e3832ffa11b3cf6ef5e8f95c594d45c1bb38	We found 57 previously reported cases with the hemimegalencephalic variant of @DISEASE$, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/developmental delay, ocular/visual involvement, and @PHENOTYPICFEATURE$.	false
+8ac179c6af2674037bd66e80f3770132274e522e	@DISEASE$ is a rare congenital sporadic neurocutaneous disorder characterized by an epidermal nevus and various developmental @PHENOTYPICFEATURE$, eyes, nervous, cardiovascular and urogenital systems.	false
+f0ea08d0c73164aaf9e1ab5eaa689bc0177fe259	The @DISEASE$ is a disease complex consisting of the association of an epidermal nevus with various developmental @PHENOTYPICFEATURE$, eyes, nervous, skeletal, cardiovascular, and urogenital systems.	false
+916e91b7b7289f05831c2530e798db4462bfd585	@DISEASE$ is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with @PHENOTYPICFEATURE$, retinal degeneration, and diabetes mellitus.	false
+39a23afd1d9c11c28b55a48e9c8155ac33901363	Homozygous @DISEASE$ causes progressive neurodegenerative disease, anemia, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ferritin, or @PHENOTYPICFEATURE$, but its heterozygous state is less characterized and believed to be silent.	false
+860f73e61c767d9adc24b2a9327508c2404f6fbf	Higher severity of iron overload correlates with higher incidence of EKG and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+a7b8081b45609d8e7d3f030cc07c9f1c465aff4c	We present a case in which the efficacy of double chelation therapy in a patient with @DISEASE$ and @PHENOTYPICFEATURE$ was demonstrated by MRI.	false
+0c3705bf12b948eff2c06185e0e1b39fe940213d	Between 1989 and 1990, 38 patients (mean age: 18 years, range: 7-26, 21 males) with @DISEASE$ and without clinical signs of @PHENOTYPICFEATURE$ were enrolled prospectively.	false
+2c146f5f8d3ed673923076497c2c6e74d3258947	We report the case of a 25-years-old male with @DISEASE$ who developed acute @PHENOTYPICFEATURE$, with severe systolic dysfunction, resulting from iron overload.	false
+de7e44c07b21338e45adc02b6bc61475de15479a	A case of severe @PHENOTYPICFEATURE$ due to iron overload in a patient with @DISEASE$ is reported.	false
+d1553bd751215bfd1143807dbea583f7dad1cb57	A 21-year-old woman with @DISEASE$ (beta-TM) and GH deficiency developed end-stage @PHENOTYPICFEATURE$, New York Heart Association (NYHA) functional class IV, within 3 months after withdrawal of recombinant human growth hormone (GH).	false
+385ac5edd6064e5f1a53808f7ba260ae98fab8f5	Four male patients (mean age 22.3 +/- 5.4 years) with @DISEASE$ associated @PHENOTYPICFEATURE$--4th NYHA and fluid overload > 20% body weight--resistant to medical treatment, underwent isolated ultrafiltration (IU).	false
+42a2b84d478fa5acf51d26799f072adc6bab48a1	Despite intense iron-chelation therapy, the life expectancy of patients with @DISEASE$ (beta-TM) is still limited by the occurrence of @PHENOTYPICFEATURE$.	false
+a7701d103eaf3f75d812deedd095831467c605c2	These examples include lentiginosis-related syndromes (e.g., Peutz-Jeghers syndrome, Carney complex), photosensitivity-related syndromes (@DISEASE$, Rothmund-Thomson syndrome), and @PHENOTYPICFEATURE$-related syndromes (Cowden syndrome, multiple endocrine neoplasia syndrome, tuberous sclerosis complex, Gardner syndrome, Muir-Torre syndrome).	false
+84c8908381f495cfb492bf54eab612baf3bfb543	@PHENOTYPICFEATURE$ is not a frequent part of the @DISEASE$ syndrome.	false
+5cc81571a0b7358347491d0da6edebca7887a748	@DISEASE$ @PHENOTYPICFEATURE$ lesion in a patient with extensive solar damage.	false
+08d4f276646f46d50b0b45e76602138db408d2f4	Psoriasis is a chronic disease, characterized by @PHENOTYPICFEATURE$ @DISEASE$ lesions, presented in eight different forms: plaques, guttate, pustular, erythrodermic, inverse, nail and scalp psoriasis, and psoriatic arthritis.	false
+18e2b07c83b264b91ac8456d83632e75c149ec69	The patients presented with linear @PHENOTYPICFEATURE$ streaks, @DISEASE$ erythema, keratotic papules, infiltrative plaques and irregular coalesced erythemas.	false
+0de5aeed418c6b396d629c2987346dc9bbc463bf	Tinea versicolor is a commonly encountered superficial fungal infection often presenting on the chest and back with hyperpigmented or @PHENOTYPICFEATURE$ @DISEASE$ macules and patches.	false
+187c04dead710dfdbcbfa8ecc348fbae07f72df9	The plaque was a very small, @PHENOTYPICFEATURE$ and @DISEASE$ lesion with a diameter of 1.5 cm.	false
+b23143e71cfdadc484af3f1b2a131e7c5b085a95	Pityriasis (tinea) versicolor, which consists of hyperpigmented and @PHENOTYPICFEATURE$ @DISEASE$ patches, is often difficult to treat.	false
+2d58de4e555ace2cf84ec2964d6424b16b10b6e6	He had associated @PHENOTYPICFEATURE$ @DISEASE$ lesions on the elbows, knees, and feet with periodontosis suggestive of Papillon-Lefevre syndrome.	false
+ae4710f98adf67afee9687ab6ab51dde26e9c21b	@PHENOTYPICFEATURE$ is frequently observed in @DISEASE$, but subtype-specific features and subclinical manifestations have rarely been evaluated.	false
+3a9bbb13cbd5964a9c8a566df9f958743f9c48bc	Pityriasis versicolor is a mild or chronic condition characterized by @DISEASE$ @PHENOTYPICFEATURE$ or hyperpigmented lesions usually affecting the trunk.	false
+796bfa62d783172011831d7aab032178ac728658	The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7459aeb9870a0b643c5373e3d9b1f0a61f1c37f5	@DISEASE$ and @PHENOTYPICFEATURE$ resulting from genetic mutation of Connexin 26.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+de300fcc906a15cb5cecf9cfefc5327a0ac1d15f	: We report the case of a 56-year-old male patient affected by a severe form of @DISEASE$ (type C of Carpentier classification) with secundum atrial septal defect, who presented to the emergency department with impaired consciousness, @PHENOTYPICFEATURE$, and trismus.	false
+c1d15760f6575c74f1bef516fd7591361803c069	A patient is described with a typical manifestation of pulmonary hypertension associated with limited cutaneous @PHENOTYPICFEATURE$, also known as @DISEASE$.	false
+820f6fadc4102ee7cf0950b52301f2296fbfa99c	Pulmonary hypertension with limited cutaneous @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f3c581c18516c2a73447ba519fdeb3b7db15350c	Three patients with limited cutaneous @PHENOTYPICFEATURE$ (@DISEASE$) and acute calcific periarthritis are presented.	false
+5c6b2d34068dd49fbf623d5c4c873510459901a7	@PHENOTYPICFEATURE$ and particularly its limited cutaneous variant, the @DISEASE$, is the most common connective tissue disease affected by pulmonary hypertension.	false
+25a5aefb043f13a5d66d338e8f9fd37e57046ced	@PHENOTYPICFEATURE$ and @DISEASE$: a case report in dentistry.	false
+fe69dda3d9797cd5286ffdfd18efd44e3a405568	There are two major subsets, limited cutaneous (the old @DISEASE$) and diffuse cutaneous @PHENOTYPICFEATURE$.	false
+00bec1dd6c9b4e5a30a96186d9dbecb3b519b1af	@PHENOTYPICFEATURE$ renal crisis in a patient with anticentromere antibody-positive @DISEASE$.	false
+288993c83a5c1387dc181bc22cf20bdda13d6b81	Anti-RNA polymerase III antibody-associated @PHENOTYPICFEATURE$ renal crisis in a patient with @DISEASE$: A case report.	false
+b5d11c343ee8bb20e1dce78a08b26640c3194933	Characterisation of centromere (kinetochore) antigen reactive with sera of patients with a @PHENOTYPICFEATURE$ variant (@DISEASE$).	false
+1c0d8acf0d75b1e83e787937ed31ef1aee2f36a6	@PHENOTYPICFEATURE$ and its limited variant, the @DISEASE$ (calcification, Raynaud phenomenon, esophageal dysmotility, sclerodactily, telangiectasia), is the most common connective tissue disease affected by pulmonary hypertension.	false
+d8175a03929e652af9ddf73fa6810ec810d8462b	@DISEASE$: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, @PHENOTYPICFEATURE$, and radial defects.	false
+6a8ce4e1e2b5cfd256d16243c37ec14d0ff3d215	ROR2 is mutated in hereditary brachydactyly with @PHENOTYPICFEATURE$, but not in @DISEASE$.	false
+9eda86c75b9d1001af68d90bc72de893c317dd1a	The objective of this study was to evaluate serum omentin, resistin and @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) levels in @DISEASE$ (BD) patients with and without ocular involvement, as well as control subjects.	false
+bcb7d55d5673469ac9024f1ba4cc2a06550f6a5f	Oral contraceptives, infection, chronic inflammatory diseases like @DISEASE$, inflammatory bowel disease, @PHENOTYPICFEATURE$, paroxysmal nocturnal hemoglobinuria (PNH), pregnancy, puerperium, poor nutrition are some of the other acquired and local risk factors associated with both these disorders.	false
+2485c4061d28860a5f6b89aaf0dc44ae5e898b83	We report a patient with an overlap of relapsing polychondritis and @DISEASE$ whose cartilaginous inflammation and genital lesions were refractory to corticosteroids and immunosuppressants, but fully remitted with the @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitor, infliximab.	false
+7aa5a6f4af5516db1ec5cf617f4c949a637a2dee	[Neuro-@DISEASE$ mimicking a thalamic @PHENOTYPICFEATURE$].	false
+58a28402d8e2f6dd00179f300ca65f1a2f046637	In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including @DISEASE$, have dominant transmission; and 2) most correspond to cytosolic iron accumulation while some, like Friedreich's @PHENOTYPICFEATURE$, are disorders of mitochondrial metabolism.	false
+71adaa2880b14714728e2011bb5e951b1baafa43	In this sample of Mexican youths, @PHENOTYPICFEATURE$ was associated with a significantly lower @DISEASE$ and increased cardiometabolic risk.	false
+7a14ba8aeaf17d48291ef0bc9686a05d0d82c348	To explore policy options that public health specialists (@DISEASE$) consider appropriate for combating @PHENOTYPICFEATURE$ in Europe, and compare their preferences with those of other stakeholders (non-PHS).	false
+9b60e1f801cdc9eb9213bdf37a667269ee0aae75	We report on a female patient with @DISEASE$ showing severe mental retardation with absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features, such as a coarse face, a broad nasal bridge and a wide mouth, and @PHENOTYPICFEATURE$ attacks.	false
+0ad543a2077bd20e59e71dad2f370cb6b11e2c30	Pulmonary hypertension syndrome (@DISEASE$; ascites) in fast growing meat-type chickens (broilers) is characterized by the onset of idiopathic pulmonary arterial hypertension (IPAH) leading to right-sided @PHENOTYPICFEATURE$ and terminal ascites.	false
+f01ef2e1d390448e4a7bc382b6f04508bb177b52	Clinical manifestations in infants with @DISEASE$ included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, @PHENOTYPICFEATURE$, imperforate anus, and micropenis with undescended or hypoplastic testes in males.	false
+7c82a1b471fa971a8768c23d3c7941b71df221bb	Laryngoscopy on 26 subjects with @DISEASE$ showed that 15 had a bifid @PHENOTYPICFEATURE$ epiglottis (58%) and none of 14 subjects with GCPS had a cleft epiglottis.	false
+9d511acd0ecd6258edcbac0b5a786417e7cc640c	Patient health status (@DISEASE$) and peak oxygen uptake (V.O2) are important predictors of clinical outcomes in individuals with @PHENOTYPICFEATURE$.	false
+209899b691d16d760460c351bc09f5a853910075	Pitt-Hopkins syndrome (@DISEASE$) is a probably underdiagnosed, syndromic mental retardation disorder, marked by @PHENOTYPICFEATURE$ episodes and characteristic dysmorphism (large beaked nose, wide mouth, fleshy lips, and clubbed fingertips).	false
+5f15432f955a51cc82411224e90b5f9499e5475a	Cystatin C and risk of @PHENOTYPICFEATURE$ in the Physicians' Health Study (@DISEASE$).	false
+579721604d6643c0784279c8197dc4cc9473f8c4	Pitt-Hopkins syndrome (@DISEASE$) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of @PHENOTYPICFEATURE$.	false
+48d91e5a6e092aef2e3f6784b5c7fbb8116d79da	The main differential diagnosis includes hypertrophic @PHENOTYPICFEATURE$, dermatofibroma (fibrous histiocytoma), pilar leiomyoma, neurofibroma, adult myofibromatosis, extra-abdominal fibromatosis and plaque-stage @DISEASE$.	false
+7ad03a81b6c75c6856a9570628fb7cea28fde1f7	The tumors included undifferentiated pleomorphic sarcoma, synovial sarcoma, osteosarcoma, myofibroblastic sarcoma, myxofibrosarcoma, liposarcoma, @DISEASE$, metastatic chondrosarcoma and @PHENOTYPICFEATURE$.	false
+f83577bc8ffa24a2059c82a2e05f8d4662765e71	The patients were classified into 5 types: Type 1, without @DISEASE$ @PHENOTYPICFEATURE$ and hypoplastic or aplastic middle phalanx; type 3 or "shovel hand" with complete syndactyly also affecting the thumb; type 4 longitudinal deficiency of some digits or radius and type 5 transversal absence.	false
+c73cf58d456923bcf72785c55097664a361b05b3	We report a case of yellow nail syndrome (@DISEASE$) associated with recurrent episodes of @PHENOTYPICFEATURE$.	false
+0cea4c1ec55bf9a8dcab8cbcc5c1328204cc9da7	We report a case of @DISEASE$ (YNS) associated with recurrent episodes of @PHENOTYPICFEATURE$.	false
+a31a26bacc5dd45b68bbfb5df6ef26b6156951ab	The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as @DISEASE$ with additional manifestations ranging from @PHENOTYPICFEATURE$, persistent neutropenia, abnormal T-cell function, and neonatal liver disease.(3)	false
+cb5c14767e151f83a8768987dd3e1f14905b9a18	In addition to the previously described characteristics of the syndrome, @PHENOTYPICFEATURE$, persistent neutropenia, abnormal T cell function and neonatal liver disease all occurred and may be additional manifestations of @DISEASE$, requiring diagnostic or therapeutic consideration.	false
+80553437870269aa2848bba30b8b15808dc7deee	A case of @DISEASE$ demonstrates cerebral hemispheric involvement, as well as and intraaxial and extraaxial brain stem involvement in a patient with symptoms of paraparesis, urinary incontinence, visual loss, ataxia, @PHENOTYPICFEATURE$, proptosis, and nystagmus.	false
+583b50c995d5c5930b0eb357225fe2459641b632	@DISEASE$ with multiple benign breast @PHENOTYPICFEATURE$ and successful pregnancy with substitutive therapy.	false
+3ae57adf86d7470175368c1691336ee73caaa031	The @DISEASE$ is an extremely rare congenital syndrome that causes facial malformations, as well as genital, cardiac and @PHENOTYPICFEATURE$.	false
+0fa28e44e3872a7dce539161f527c00e2fdbfaaf	The unique clinical features are characterized by a marked short stature, @DISEASE$, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, @PHENOTYPICFEATURE$, and laxity of joints.	false
+cb34b1eb2fc5483f759aac6372670423bbef1de3	The diagnosis of @DISEASE$ came forward and genetic studies revealed a de novo @PHENOTYPICFEATURE$ in the fibrillin 1 (FBN1) gene.	false
+bc5bd2aa1834c85acbfa49aaae239a4b8ebbe87d	@DISEASE$ (IU), a subtype of ocular inflammation, has been associated with systemic @PHENOTYPICFEATURE$, specifically with multiple sclerosis (MS).	false
+e094eb55c0c5bec3c6440dd089eae9cdb6af8037	The apparent paradoxical association of @DISEASE$ with calcific periarthritis and spinal @PHENOTYPICFEATURE$ is discussed in relation to the known effects of inorganic pyrophosphate on apatite crystal nucleation and growth.	false
+1cc77508d8cec2ef941774113754df7de9b84e8e	Renal impairment in hypophosphatasia (@DISEASE$) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/@PHENOTYPICFEATURE$ or exposure to toxic agents.	false
+c02f5926749c60fc99743311ef1776748507341d	Renal impairment in @DISEASE$ (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/@PHENOTYPICFEATURE$ or exposure to toxic agents.	false
+b31898ca40675d73b401222fda9ea3420ae4e115	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperphosphatemia syndrome, hypophosphatemic rickets, and @DISEASE$), and bone resorption (Gorham-Stout disease).	false
+1a47c866c397c3f40dd43f9ad97fed6954f70b1d	After @PHENOTYPICFEATURE$, rats showed a prolonged (up to 3.5 h) reduction in fast-wave sleep (@DISEASE$) with no subsequent compensatory increase in this phase in the sleep-waking cycle, while a disturbance in slow-wave sleep (SWS) was minor and short-lived (not more than 2 h).	false
+0a517a010526341d64640a58b228841870a80531	A 50-year-old woman with a 4-year history of @DISEASE$ was admitted to our hospital because of progressive nausea, appetite loss, body weight loss, diarrhea and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+c10c60199f743eacc181da2a73e598b10daf414b	@DISEASE$ associated with bilateral @PHENOTYPICFEATURE$.	false
+f82b647aa506b7916d048d4b0148b4003565ba5f	@DISEASE$ has been associated with @PHENOTYPICFEATURE$, cerebral hemorrhage, and multiple cranial traumas.	false
+b02b540efd8b393eccfa4048d0a12f5d9ef9a7ba	Noonan's syndrome is a multiple congenital anomaly syndrome with characteristic facial features, @PHENOTYPICFEATURE$, congenital heart defects and a recently reported association with @DISEASE$.	false
+301b2e9def511f53bd347cf7a2675726707628d2	We experienced a nine-year-old girl with @DISEASE$ who showed choreic @PHENOTYPICFEATURE$ of the left upper and lower limbs.	false
+c9db040e1928e87114d03df1a66f41eaff48821f	Microcephalic osteodysplastic primordial @PHENOTYPICFEATURE$ type II with caf?-au-lait spots and @DISEASE$: another patient.	false
+6adda0cf0aa32de4871325561cdf385fc241ea0a	Postpartum subarachnoid hemorrhage due to @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+612dfc4d9c5847cd88265f6ef0e3d6f97e0a534f	@DISEASE$ complicated with @PHENOTYPICFEATURE$ and nephrotic syndrome: reversal of nephrotic syndrome after nephrectomy.	false
+eea287933558d2ee26790053d867dbcd98c293d7	Medical history included @DISEASE$, cerebrovascular accident, depression, hypertension, @PHENOTYPICFEATURE$, atherosclerotic cardiovascular disease, vitamin B12 deficiency, Addison?s disease, as well as a colostomy secondary to diverticulitis.	false
+618f3e02bcbe039349e4ff88679852977b731710	35 patients with @DISEASE$ complicated with @PHENOTYPICFEATURE$, coronary heart disease were treated during 8 months with poseidonol--polyunsaturated fatty acid family omega 3 (PUFA--omega 3).	false
+6a9fbfc740fd7db63c9c1bb46615b775b7df80a7	High prevalence undiagnosed glucose @PHENOTYPICFEATURE$ among persons (24,9%) is taped; it is established that relative risk of diabetes mellitus type 2 significantly raised at persons is more than 50 years of age independently of BMI, at the same time first-degree obesity increased relative risk of @DISEASE$ in 4,3 times and third-degree obesity--in 9,0 times independently of age.	false
+dad130ecede9a511d5c95df641c12fb89275c227	High prevalence undiagnosed glucose @PHENOTYPICFEATURE$ among persons (24,9%) is taped; it is established that relative risk of @DISEASE$ significantly raised at persons is more than 50 years of age independently of BMI, at the same time first-degree obesity increased relative risk of diabetes mellitus type 2 in 4,3 times and third-degree obesity--in 9,0 times independently of age.	false
+e1848415cc9ea306e940d3ae6bcb499f64f67486	The reduction of micro- and macrovascular end points in patients with @DISEASE$ is achieved by control of traditional risk factors such as hyperglycemia, @PHENOTYPICFEATURE$, obesity and hypertension.	false
+9652d0996cc67811c08b11487758daf4cf752985	35 patients with @DISEASE$ complicated with @PHENOTYPICFEATURE$, coronary heart disease, were treated for 8 months with poseidonol which incorporates essential polyunsaturated fatty acids and fat-soluble vitamins.	false
+75f674edb35d9a54df8013ef0811100ffef815fa	SGA is associated with increased neonatal morbidity and mortality as well as @PHENOTYPICFEATURE$, cardiovascular disease, insulin resistance, @DISEASE$, dyslipidemia and end-stage renal disease in adulthood.	false
+c4642dbee29cc881750cbebdfc174a2a3d7a2a5f	In an ethnically diverse inner city patient population, patients with @DISEASE$ who use insulin have no significant differences in urine parameters when compared with those on oral @PHENOTYPICFEATURE$.	false
+3cf3955ff0d771888b8832051679abcb5750981c	Several metabolic derangements associated with @DISEASE$ (DM) have been associated with a better outcome in amyotrophic lateral sclerosis (ALS), including @PHENOTYPICFEATURE$ and obesity.	false
+378943b59f6424367e45ebc0baa5425f152140b6	In addition, the impact of these interventions on comorbidities commonly associated with obesity like @DISEASE$ and @PHENOTYPICFEATURE$ has further expanded their potential for use in future.	false
+7a09ae6864a960a21eed273be0abba6a69395db8	Variables analyzed included age, glucose levels, @DISEASE$, hypertension, @PHENOTYPICFEATURE$, height, weight, sex, smoking, preexisting neurologic conditions, surgical history, lower extremity edema, and neurologic examination findings.	false
+6d4a021cd623293695af8b9de15ddbb9c8fa23be	@DISEASE$ (MTS) is an X-linked recessive disorder characterized by @PHENOTYPICFEATURE$ and dystonia.	false
+ecd074956d836a9cb6ac48eb84710c2ca120458f	A new X-linked recessive @PHENOTYPICFEATURE$ syndrome was recently reported and mapped to Xq22 (@DISEASE$).	false
+723b175e9397b69b94d6ec3080d49f93131ee8df	Sex-linked male @PHENOTYPICFEATURE$ and dystonia (@DISEASE$) arises from mutation of the deafness/dystonia peptide (DDP) gene.	false
+6f4e2cbb45f4f81a5d92d21d4a6b85e3bb3cca4f	Sex-linked male deafness and dystonia (@DISEASE$) arises from mutation of the @PHENOTYPICFEATURE$/dystonia peptide (DDP) gene.	false
+6d023f1bcd247d887a0b4d7c004134b31f8d3d2f	@DISEASE$ (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset @PHENOTYPICFEATURE$, gradual dystonia and optic atrophy.	false
+0b20d137d447804597820a0ba88ba277e0f3e7ba	A novel @PHENOTYPICFEATURE$/dystonia peptide gene mutation that causes dystonia in female carriers of @DISEASE$.	false
+8cb8074857cbeb86a8eff1c5797e7b5c356349bb	This family represents a new syndrome (@DISEASE$, MTS) and provides significant new information about a new X linked recessive sydromic type of @PHENOTYPICFEATURE$ which was previously thought to be isolated deafness.	false
+3aec741de2bbd352452592c1a6bdc53b781b48e7	This family represents a new syndrome (@DISEASE$, MTS) and provides significant new information about a new X linked recessive sydromic type of deafness which was previously thought to be isolated @PHENOTYPICFEATURE$.	false
+3946880c4b69b1bb5d8144addb87222788eef9e9	The SDHD region contains another gene, DPP2/TIMM8B, the homolog of which causes dystonia and @PHENOTYPICFEATURE$ seen in @DISEASE$.	false
+1c6e19d42947e592afdfde09b2fbad610c1c12b1	X-linked @DISEASE$ (DDS) is characterized by early-onset @PHENOTYPICFEATURE$ followed by progressive dystonia in adulthood.	false
+d6979a9a6ee9b6c3c0c640fa3c662868f01ad54e	Blepharospasm and limb dystonia caused by @DISEASE$ with a novel splice-site mutation in the @PHENOTYPICFEATURE$/dystonia peptide gene.	false
+dc45e287955ce540f39c13999a55eb927ca7e960	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive @PHENOTYPICFEATURE$, dystonia, spasticity, mental deterioration, and blindness.	false
+7ad568f9dc2de62dfc24ccd9821c2a99471a145e	The list of indications is expanding, but at present it is generally considered to be the treatment of choice for focal dystonias such as blepharospasm, torticollis, laryngeal dystonia, and @DISEASE$, as well as hemifacial spasm, strabismus, and some forms of limb @PHENOTYPICFEATURE$.	false
+58bebe85a953c645cab7565f63e72411b4ef1899	All patients presented with at least 1 movement disorder, including chorea (n=4), stereotypic movements (n=4), @PHENOTYPICFEATURE$ (n=3), limb dystonia (n=2), limb myorhythmia (n=2), @DISEASE$ (n=2), facial myorhythmia, blepharospasm, opisthotonus, athetosis, and tremor (n=1, each).	false
+371920b2698a515519bea7099f4aed4da9c6062a	It may also be used in the treatment of patients with @DISEASE$ and limb dystonia, especially writer's cramp, and has been used successfully in the treatment of @PHENOTYPICFEATURE$ and cerebral paralysis.	false
+f4ddec87ee0bf5ffa5d946ab613ef856057fc7d4	We report on a 39-year-old man who presented initially with marked blepharospasm, @DISEASE$ and retrocollis and one year later developed mild @PHENOTYPICFEATURE$.	false
+9b10fb779a6a41a2227a935c3e5d5e04ae75c627	The majority of patients displayed @PHENOTYPICFEATURE$ (90%), leg dystonia (79%), @DISEASE$ (64%), neck dystonia (57%), blepharospasm (57%), and truncal dystonia (52%).	false
+c1b1f2aaa43bcff3af5605b473f5ab065c6f053b	We present here a case of heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation, in which the clinical picture was dominated by a host of involuntary abnormal movements including chorea-ballism, myoclonus, and @DISEASE$ in a backdrop of cognitive decline, @PHENOTYPICFEATURE$, and stroke-like episode.	false
+9034dd8d49ac1ab34866d71b6d321ce3c0897ee1	One subtype, familial partial lipodystrophy Dunnigan (@DISEASE$), is a rare autosomal dominant trait that results in an gradual loss of subcutaneous fat in the lower trunk and limbs, Type V @PHENOTYPICFEATURE$, hypertriglyceridemia, and insulin-resistant diabetes.	false
+aca17f3d9999c7880002ef7186b4111be8f4e770	One subtype, @DISEASE$ Dunnigan (FPLD), is a rare autosomal dominant trait that results in an gradual loss of subcutaneous fat in the lower trunk and limbs, Type V @PHENOTYPICFEATURE$, hypertriglyceridemia, and insulin-resistant diabetes.	false
+3e738677d62e7cf7cb6bc53aa6f8a1774a47dcaa	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (@DISEASE$), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+a7a6bb289677219652a0de79ec9f0a4a06b5e39d	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, @DISEASE$ (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+3e738677d62e7cf7cb6bc53aa6f8a1774a47dcaa	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (@DISEASE$), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+a7a6bb289677219652a0de79ec9f0a4a06b5e39d	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, @DISEASE$ (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+062741f310cce3621d96d462d16d8c765ae9a5e6	In this report we describe a moderately mentally retarded adult male with a remarkable association of additional clinical symptoms, severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features resembling the @DISEASE$ and @PHENOTYPICFEATURE$ with cervical spina bifida, hyperkyfosis and thoracic deformity.	false
+1cc1e0ad6d4cca8639906bdcd107e277ab893d2b	The AA genotype was found to be associated with a 1.80-fold increased risk for T2DM combined with @DISEASE$.05-fold increased risk for @PHENOTYPICFEATURE$ and 2.37-fold increased risk for obesity of abdominal type compared to the GG (P<0.05,	false
+95c26db8374a135ae98e202f62d7c5c1897e3cf7	The AA genotype was found to be associated with a 1.80-fold increased risk for T2DM combined with @DISEASE$.05-fold increased risk for obesity and 2.37-fold increased risk for @PHENOTYPICFEATURE$ of abdominal type compared to the GG (P<0.05,	false
+57ec51d9177d19361c64152d2a769528bf9ab37c	The propositus in our report presented with multiple congenital anomalies including micrognathia, cleft palate, congenital heart defect with D-transposition, double outlet right ventricle, PFO, @DISEASE$, PDA and pulmonary valve stenosis and @PHENOTYPICFEATURE$.	false
+bb7b81d71bdcbb5f212436965326ee3aebd9c823	A 43-year-old man with ventricular septal defect (@DISEASE$) was treated by oral endotracheal intubation because of heart-failure and @PHENOTYPICFEATURE$, and tracheostomy was performed.	false
+d22bc86b8f17d606aefe72746a16cb917590b11f	In addition to features more commonly described in MVA such as microcephaly, @PHENOTYPICFEATURE$, and certain facial features, he also has features not commonly reported in MVA, including short limb segments, epidermoid cysts, @DISEASE$, and subaortic stenosis.	false
+3140a5d8a80392c2bc54abc288a0f75c56480efa	The major illnesses included: 1) congenital heart disease (CHD), 42.6%; with endocardial cushion defect, @DISEASE$, atrial septal defect and patent ductus arteriosus as the common types; 2) frequent or major respiratory tract infections, 34.2%; 3) summer fever, 5.5%; 4) major infective episodes other than @PHENOTYPICFEATURE$, 5.0%.	false
+d699dab2ba5fbd52eba4738da8bf121cb9780d01	He presented with many of the common features of the syndrome, such as cleft palate, macroglossia, post-axial @PHENOTYPICFEATURE$, "coarse" facial features, and @DISEASE$ (VSDs).	false
+52f9e33d8e2404ba8ac38f0e7f8710267c5bf826	Patient 6 - year- old boy, with history of recurrent otitis, cleft palate, was admitted to the hospital for fever, @PHENOTYPICFEATURE$; He had high ESR,CRP, low T lymphocytes, @DISEASE$.	false
+fc66363282382881565669b3479ee2300be95ad4	Report on two siblings having died during the first days of life who exhibited a syndrome of @PHENOTYPICFEATURE$, renal aplasia and inter-sexual genitalia, and in one child an additional cleft palate and coarctation of the aorta with @DISEASE$.	false
+66903e6cd91f744531779dbd71a3835208538e5d	Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, @DISEASE$, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely @PHENOTYPICFEATURE$.	false
+c2d7148f2042c0b4aa152f6e742b2032fc1cf34a	The main clinical features of the patient included severe mental retardation, postnatal developmental delay, @DISEASE$ (VSD), and craniofacial anomalies including cleft palate, @PHENOTYPICFEATURE$, hypertelorism, and a broad nasal bridge.	false
+b605da39f2c9474074f63d2a8c5488fb07c08f4e	The main clinical features of the patient included severe mental retardation, postnatal developmental delay, ventricular septal defect (@DISEASE$), and craniofacial anomalies including cleft palate, @PHENOTYPICFEATURE$, hypertelorism, and a broad nasal bridge.	false
+422d59279545843e8a7b7c8b0af9ec074f48ce62	One brother has @PHENOTYPICFEATURE$; the other had a pulmonary artery atresia, @DISEASE$, ASD, and an over-riding aorta.	false
+0d1db0841095094a2540003c5b48bfd8bf21a693	It is believed that RNA toxicity underlies much of the premutation-related involvement, including developmental concerns like @PHENOTYPICFEATURE$, as well as neurodegenerative issues with aging such as the @DISEASE$ (FXTAS).	false
+19e8662c5be69a9f660810c8fd122120c7d704d2	@DISEASE$ (FXTAS) is a late-onset @PHENOTYPICFEATURE$ associated with FMR1 premutation alleles.	false
+136c3fde508ff4e3968aaeeb65fe5f8fbb50491a	@DISEASE$ (FXTAS), a late-onset @PHENOTYPICFEATURE$ affecting FMR1 premutation carriers, is associated with cerebral and cerebellar lesions.	false
+b7b2d520d6cbc9a80fa285c175e0ada79266a1d1	@DISEASE$ (FXTAS) is a neurodegenerative @PHENOTYPICFEATURE$ characterized by tremor, ataxic gait, and balance issues resulting from a premutation of the Fragile X Mental Retardation 1 (FMR1) gene.	false
+d78b530668f419c0e0b970043e58407959e2a64b	@DISEASE$ (FXTAS) is a progressive degenerative @PHENOTYPICFEATURE$ characterized by kinetic tremor, cerebellar gait ataxia, parkinsonism, and cognitive decline.	false
+2c408283f797c0665e20e2f3e80e7e823e0729f2	These changes manifest clinically as developmental problems such as @PHENOTYPICFEATURE$ and learning disabilities as well as neurodegenerative diseases including @DISEASE$ (FXTAS).	false
+99fcd0b4d14a9e1668cf3a8d0b80eae43fd660f6	Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, @PHENOTYPICFEATURE$, and fragile X-related primary ovarian insufficiency (FXPOI) and @DISEASE$ (FXTAS).	false
+f5da4fde4636b6f8350199b30c7bba34d3141b8a	@DISEASE$ (FXTAS), caused by premutation expansions (55-200 CGG repeats) of the FMR1 gene, shares clinical features with other @PHENOTYPICFEATURE$, particularly in the domains of gait ataxia, intention tremor and parkinsonism.	false
+973aad88420ce6127be212f8abfb2010b9e5b1ed	Two forms of clinical involvement associated with the fragile X mental retardation 1 (FMR1) gene, @PHENOTYPICFEATURE$ and @DISEASE$ (FXTAS), have received additional attention during the past year.	false
+2acea6a00d88fec32c98ad4abaab91e42f522201	@DISEASE$: phenotypic comparisons with other @PHENOTYPICFEATURE$.	false
+9f16da62636c3bb65023c950845dd0580ece006b	5/13 (39%) undifferentiated pleomorphic sarcomas, 6/18 (33%) malignant peripheral nerve sheath tumors, 5/16 (31%) dedifferentiated liposarcomas, 4/19 (21%) rhabdomyosarcomas, 2/16 (13%) epithelioid sarcomas, 2/15 (13%) leiomyosarcomas, 3/26 (12%) synovial sarcomas, 1/18 (6%) myxoid liposarcoma, 1/2 (50%) extraskeletal myxoid chondrosarcoma, 1/3 (33%) @DISEASE$, 1/3 (33%) parachordoma/myoepithelioma, 1/5 (20%) pleomorphic liposarcoma, 1/7 (14%) angiosarcoma, 1/8 (13%) @PHENOTYPICFEATURE$ showed PD-L1 expression.	false
+be5aef296dc0d9cf48f1bfa2b2999d10957bcced	@DISEASE$ (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by @PHENOTYPICFEATURE$ dysplasia, narrow thorax, and polydactyly.	false
+d7998f8afa284765c3715ba53ea82c9ebbb5102b	@DISEASE$ (SRPS) consists of a group of lethal skeletal dysplasias presenting with @PHENOTYPICFEATURE$ and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities.	false
+bfc336bd215db17466f69e5e5394e45253428521	The combination of a @DISEASE$ with a second carcinomatous cell type has been recognized, although immunohistochemical studies currently have not been performed in an attempt to understand the histogenesis of such a @PHENOTYPICFEATURE$.	false
+e638a734253bd832198e0280f23402bad4883d4e	Craniofacial osteosarcoma differs from long @DISEASE$ in that patients are older, @PHENOTYPICFEATURE$ are often low grade, and prognosis is more favorable.	false
+8293349124be3475caff2337e0c8ccffdb1f79c3	In 16 patients with a long @DISEASE$ treated after the therapy regimen of COSS 80/82 (Cooperative Osteosarcoma Study) the @PHENOTYPICFEATURE$ response to preoperative chemotherapy was assessed by conventional roentgenograms (plain films, tomograms, angiograms).	false
+42b04a4ab5badb573fd90236a33aff08da16bd49	Here we examine the expression of Snail2 in one type of sarcoma, osteosarcoma, and explore its relationship to @PHENOTYPICFEATURE$ grade, subtype and anatomical location in cases of long bone and cranial @DISEASE$.	false
+285cfa3a3dd4a3f97b3ca989f05cc8861f1da7d7	@DISEASE$ is a @PHENOTYPICFEATURE$ composed of malignant cells that produce osteoid.	false
+c67fac6399752f51c3af27d5f4743aa40d7583f1	There is only one other reported case of direct extension into the venous system by an iliac @DISEASE$ in an adolescent; however, the @PHENOTYPICFEATURE$ did not extend into the pulmonary circulation.	false
+f1fd65995098e51eca58dc2b0b3d256b155ce53e	@DISEASE$ is a recognizable entity if the histopathologist designates @PHENOTYPICFEATURE$ as such when their malignatn cells produce osteoid substance even if only in small foci.	false
+bfb5ed092818740ac85e7ede5233e305f6491aef	Among the 868 @DISEASE$, there were 100 (11.52%), which comprised 69% of the @PHENOTYPICFEATURE$ in patients over the age of 50?years.	false
+1e9e6b5327b21dc67eddd158da14b73cc7aa0a4e	The group comprised patients with primary and recurrent giant cell tumours of @DISEASE$, chondrosarcoma and Ewing's @PHENOTYPICFEATURE$.	false
+907d96eff988cf3c054b20131ee1caefa7c9aa00	In contrast to long @DISEASE$, mandibular osteosarcoma is highly heterogeneous and morphologically overlaps with benign @PHENOTYPICFEATURE$, obscuring diagnosis and treatment selection.	false
+cefbdbd26e691c4dd2d28f1669344b0007fcf484	Mutations in EIF2AK3 cause @DISEASE$ (WRS), a rare recessive disorder characterized by early-onset diabetes, @PHENOTYPICFEATURE$, and liver dysfunction.	false
+37f41a0188919ae20d13d4c81ab139b105902d60	Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (@DISEASE$), a rare recessive disorder characterized by early-onset diabetes, @PHENOTYPICFEATURE$, and liver dysfunction.	false
+064eb7eac205b1453c06d6e3b003a3ee1d9fba85	Mutations in the EIF2AK3 gene are known to cause @DISEASE$ (WRS), a rare recessive disorder characterized by early-onset diabetes, @PHENOTYPICFEATURE$, and liver dysfunction.	false
+b31389498dd9fb29fce9f605c7ecb55c8f438a09	Mutations in the EIF2AK3 gene are known to cause Wolcott-Rallison syndrome (@DISEASE$), a rare recessive disorder characterized by early-onset diabetes, @PHENOTYPICFEATURE$, and liver dysfunction.	false
+b33c37ed825633d1e2566fc7d68317a262316a4c	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (@DISEASE$) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other @PHENOTYPICFEATURE$).	false
+e2e0ae430d49fc8262cc895baeb03370a0d0aac9	Recently, microdeletions of the FOX gene cluster at 16q24.1, comprising four genes, FOXF1, MTHFSD, FOXC2 and FOXL1, were reported to cause a phenotype resembling VACTERL association, with @PHENOTYPICFEATURE$, gastro-intestinal atresias (esophageal, duodenal and anal), @DISEASE$, and urinary tract malformations, as well as a rare lethal developmental anomaly of the lung, alveolar capillary dysplasia.	false
+8ce53f4f6aa06381b149211e8153cc50efc7d7c3	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and @DISEASE$, along with other skeletal and dental abnormalities.	false
+f1a7ba8ae4985d9947508300377074a449bc784c	The prevalence of skin @PHENOTYPICFEATURE$ and the molecular mechanisms responsible for pain in @DISEASE$ remain unclear.	false
+8f46e88070d7c1babab51e6437c3f35c6e438b84	Symptoms of skin @PHENOTYPICFEATURE$ and redness are highly relevant to patients with @DISEASE$.	false
+718eaa0e0ee6bac4fb53cadfc9d7819ddafcd5aa	HDR (hypoparathyroidism, @PHENOTYPICFEATURE$, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized @DISEASE$.	false
+f30aa731aaa4dad6e1ef1a80b1a8aec60076771d	Skin @PHENOTYPICFEATURE$ and discomfort in @DISEASE$: an exploratory study of symptom prevalence and characteristics.	false
+547f8f34d7d8d8bd8916ac5385ca1bea4f1a4205	Syndermatotic @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+91585881cb75137e60e6c586ef780eda8247c87f	Cutaneous @PHENOTYPICFEATURE$, a very broad, subjective, and complex symptom, is prevalent in patients with @DISEASE$.	false
+1dc828fc1617937d9c43cd90e674e7c9b928c0f5	All of them suffered moderate to severe @DISEASE$ and chronic, bilateral @PHENOTYPICFEATURE$.	false
+6db2bcb1bc9f313cb7adb96a125733f6f68ffe1c	A kindred with alopecia, keratosis, pilaris, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ae1aa6d2c57be7b6fd0ffb8012250034dc8ad3aa	Although 40% of @DISEASE$ patients reported skin @PHENOTYPICFEATURE$, this symptom is often underestimated.	false
+ca064761eea263a7eb6b5ba804dd5dd0189370c9	In patients affected by @DISEASE$, use of a topical formula containing a derivative of zebrafish embryos was associated with reduced @PHENOTYPICFEATURE$ and dermal turnover, as well as a generally better outcome.	false
+9e0a484ee06eecb6b7df92dc66986f86bb585988	Significant increases with higher CDR scores were observed in 1) two of the three factor scores which were loaded for all items except euphoria in @DISEASE$) two of the four factor scores for apathy, aberrant motor behavior (AMB), sleep disturbances, agitation, irritability, disinhibition, and euphoria in DLB, and 3) one of the four factor scores for apathy, depression, anxiety, and @PHENOTYPICFEATURE$ in VaD.	false
+d59cccfaa7ddd37f30d3241966b56e3dd42f69c1	Significant increases with higher CDR scores were observed in 1) two of the three factor scores which were loaded for all items except euphoria in @DISEASE$) two of the four factor scores for apathy, aberrant motor behavior (AMB), @PHENOTYPICFEATURE$, agitation, irritability, disinhibition, and euphoria in DLB, and 3) one of the four factor scores for apathy, depression, anxiety, and sleep disturbances in VaD.	false
+0974526057deddbf86bc7c21cdd62ee89e7910e2	PHA 2: The association of hyperkalemia/@PHENOTYPICFEATURE$ with high blood pressure should suggest PHA 2 or Gordon's syndrome, still called @DISEASE$.	false
+948e7fd2e1586a8ea135004607f06211a1750c9c	neural tube defects (NDTs), @DISEASE$ (ADLD)] and @PHENOTYPICFEATURE$ (e.g.	false
+b5bb682d3261341a1f0f5d75f5709ed3a5f40881	neural tube defects (NDTs), adult-onset autosomal dominant leukodystrophy (@DISEASE$)] and @PHENOTYPICFEATURE$ (e.g.	false
+9fb0466cf334e94984b6e3ef6b06af5d892b74a2	We have presented an infant with @DISEASE$ and coincident @PHENOTYPICFEATURE$.	false
+3dffbb2fb4f3dc2aae5b75cda65080a6f2b9ff69	@DISEASE$ associated with severe psychomotor developmental delay, failure to thrive, @PHENOTYPICFEATURE$ and microcytic anaemia.	false
+6909ddfd54558c82d5e16ce38b20dffe6d9bde09	@DISEASE$ associated with severe psychomotor developmental delay, @PHENOTYPICFEATURE$, microcephaly and microcytic anaemia.	false
+80bca87c82098b7c79604090840fd2acd1ae9893	The range of degrees of AMIS, established over time with these models, afforded the tool with which to test the @DISEASE$ and further the argument that AMIS is the first metabolic defect that cumulatively leads to a predictable series of homeostatic disturbances and dysfunctions, including @PHENOTYPICFEATURE$ and type 2 diabetes.	false
+dbb1a364e93413885a340e26b563107f5a76f36c	The @DISEASE$ hypothesis is mechanistic-based and accounts for the major pathologies associated with prediabetes, @PHENOTYPICFEATURE$, diabetes and metabolic syndrome.	false
+5da82f2c5b2574eab96bbb0e4725756735630bea	Permanent muscular sodium overload and persistent muscle @PHENOTYPICFEATURE$ in @DISEASE$: a possible contributor of progressive muscle degeneration.	false
+b3783a7fac8fbb747e70f1df5bd5de964e70147f	Multivariate logistic regression analyses revealed endothelial disease (odds ratio = 18.66) and first POD @PHENOTYPICFEATURE$ (odds ratio = 7.88) as significant independent risk factors for @DISEASE$ occurrence (P < 0.05).	false
+92333d5e5d7b5eacb2124e3e64406334ed2637aa	The elevated myoplasmic Na(+) concentration in @DISEASE$ is osmotically relevant and causes a mainly intracellular muscle @PHENOTYPICFEATURE$ that contributes to the pathogenesis of DMD.	false
+8c9209a3e42721c0ce7226f2c93c66859c37c075	The elevated myoplasmic Na(+) concentration in DMD is osmotically relevant and causes a mainly intracellular muscle @PHENOTYPICFEATURE$ that contributes to the pathogenesis of @DISEASE$.	false
+4e96df171a1410f7b60e5fe7e4743921b9235f4e	Our study demonstrated that lower limb muscles of preschool @DISEASE$ patients show fatty replacement and patchy @PHENOTYPICFEATURE$ on muscle MRI and increased stiffness on shear-wave elastography.	false
+61c56782e240ff5ad6e3037813ecce96c1009327	Muscle @PHENOTYPICFEATURE$ was seen in none of the healthy boys versus 52.4% (gluteus maximus) and 57.1% (vastus lateralis) of the boys with @DISEASE$.	false
+b752be293e7b1d942bf72e8a8477e18ab6b98b22	The cause of @PHENOTYPICFEATURE$ in these patients is unknown and its relevance to the aetiology of intellectual impairment in @DISEASE$ is not yet clear.	false
+f65afe4594ce48e99e821dcd9d7289d51c1845be	In all cases, the cornea was severely thickened and echogenic, consistent with @PHENOTYPICFEATURE$, and @DISEASE$ was suspected.	false
+518efe491dfb2f47b8c857cd57d297de8c349dab	Fat fractions can underestimate the actual amount of fat because of coexisting muscle @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b48e8502c20d410f94b64cb6ca6d6f00cd31a8c4	Circumscribed eccentric stromal @PHENOTYPICFEATURE$, but not @DISEASE$, partially resolved after a 3-month observational period.	false
+b1437856a795ba8ad9b88f91b633cd0aae7e0b8d	While fibrofatty changes have been described in @DISEASE$, this study further defines differential involvement and additionally suggests widespread @PHENOTYPICFEATURE$ or inflammation.	false
+4a0d16ec7666af44e92c5182f140ef30254decaf	Cranial neuropathies include the @DISEASE$, optic neuritis, and @PHENOTYPICFEATURE$.	false
+acec6bb82232160ab8909ed77ca151da7f3f85d1	Causes of the FP in this series include: otitis media, mastoiditis, temporal lobe abscess, osteopetrosis, both blunt and penetrating trauma, iatrogenic surgical injury, facial burns, cerebellar astrocytoma, @PHENOTYPICFEATURE$ rhabdomyosarcoma, intracerebral arteriovenous malformation, Goldenhar syndrome, and @DISEASE$.	false
+9b31d499c1853e0e89649731bd560e6e840cbb49	The effects of obesity and @PHENOTYPICFEATURE$-related conditions on @DISEASE$ prognosis.	false
+4d509100b76cf79b78f538aef5bef5ef3c51afa6	The effects of @PHENOTYPICFEATURE$ and obesity-related conditions on @DISEASE$ prognosis.	false
+bfa541901245b981a41100ded2d44e4b2a2fa484	@DISEASE$ after biliopancreatic diversion for @PHENOTYPICFEATURE$.	false
+5a30337f6b03ba9f57a0c971a8a77575115a82dc	One of them includes @DISEASE$ and the small intestinal bacterial @PHENOTYPICFEATURE$, known as SIBO.	false
+a92b1d89d69a7a412aae51e8d1d29dc4176031a9	@DISEASE$ is an @PHENOTYPICFEATURE$-related malignancy.	false
+581384587d063ef801df62598521014b91f8e2c8	Postoperative @PHENOTYPICFEATURE$ significantly associates with adverse survival in @DISEASE$ patients.	false
+0f948fd822737dc97d840dbd36fccca0b18183d0	Furthermore, we show that @DISEASE$ patients treated with cetuximab, an antagonist of the EGFR, develop @PHENOTYPICFEATURE$, emphasizing the significance of EGF in maintaining Mg(2+) balance.	false
+0ccb192d3925ef0642fcf1b2c1038f5d6c3a6700	Primary cancers associated with BM patients are mainly: lung, breast, renal, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bf51c0cc8bf9ac1429f8bed3c4954af438371dec	For some cancer types, there is also some evidence that weight gain during adulthood increases cancer risk, e.g., @DISEASE$, postmenopausal breast cancer, endometrial cancer, and @PHENOTYPICFEATURE$.	false
+17dbe7172c728fbf533b39a7edc5dcc0eeb68b2c	Behavioral disorders secondary to profound hypomagnesemia in a patient given cetuximab for metastatic @DISEASE$ @PHENOTYPICFEATURE$ due to cetuximab treatment.	false
+e8a592c1f27d5ba27cc48307134b04b708d69230	Republished: @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dd56b5cd5f6274a032ace0c8bb164f1878a9dd5b	These functional studies offer insight into the underlying pathophysiology of the dramatic progressive @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+aa70240da04002e4cb34de1fe64441b9eb8c6fe8	@DISEASE$ (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, encephalopathy and progressive @PHENOTYPICFEATURE$.	false
+d28c4073d91ad99d9f5d69272133d714226d25d3	An enzyme involved in renal hydroxylation is deficient or defective in patients with chronic renal failure, the @DISEASE$, vitamin D-dependent rickets, @PHENOTYPICFEATURE$, and pseudohypoparathyroidism.	false
+8a2b089273929dbdf5c6f85b8c97ed8efce8be39	A rare case report of simultaneous presentation of myopathy, Addison's disease, primary @PHENOTYPICFEATURE$, and @DISEASE$ in a child diagnosed with Kearns-Sayre syndrome.	false
+84e9df4f6ad747b07c0327076ef4610f2b032516	The high percentage of dogs with @PHENOTYPICFEATURE$ was a concern, but whether this was related to @DISEASE$ or represented a breed-related predisposition to neurologic disease could not be determined.	false
+9366f802983a080de86a913f530fdbde89fda611	We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary @PHENOTYPICFEATURE$, and @DISEASE$.	false
+105a9f9d34625b43aec9c4650f08656e66ef8a76	Surprisingly, mice deficient in Ocrl1 do not develop the congenital cataracts, renal @DISEASE$, or @PHENOTYPICFEATURE$ seen in the human disorder.	false
+bc2769558782dfeb5eb8b0df5a0ae15fbcd95495	[Modern views on regulation of calcium and phosphorus metabolism and ossification; relations between calcium and phosphorus metabolism, Krebs' cycle and steroid metabolism; studies of several cases of rachitism, a case of glucophospho-aminic renal diabetes (@DISEASE$) and tetany with hyperadrenalism and @PHENOTYPICFEATURE$].	false
+1de19b90d72f75ecef9c7d8a8c98e73329c8c1a0	Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and @DISEASE$ and vesicoureteral reflux in 3. Gastrointestinal problems included @PHENOTYPICFEATURE$ (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4).	false
+6f08ad0e31333be2c36f5f8b66814a1782d62175	Some patients with the syndrome have normal intelligence, which suggests a normally developing brain, particularly if a craniectomy is performed to treat sutural synostosis and indicates that there may be secondary factors (e.g., apnea) playing a role in the @PHENOTYPICFEATURE$ (as seen in our patient with a history of apnea) in patients with the @DISEASE$.	false
+157fbb94a69e4bf9b8a5ef4c731729f1a4088cc3	After excluding eyes with either late @DISEASE$ lesion at baseline or that had missing photographs at either examination, 4763 eyes were considered at risk of incident late ARM, including 132 eyes that had @PHENOTYPICFEATURE$ surgery before the baseline examination.	false
+980434297185ba99d8fe35aa632e6940947d34a4	After adjusting for baseline age, gender, smoking, and presence of early @DISEASE$ lesions, nonphakic (@PHENOTYPICFEATURE$ surgical) eyes had a 3-fold risk of developing late-stage ARM (odds ratio [OR], 3.3; 95% confidence interval [CI], 1.1-9.9)	false
+aef707ae72cc54b275808cfc3d4b3e17ee1f4785	Patients with @PHENOTYPICFEATURE$ or @DISEASE$ weakness were excluded.	false
+bca3391571425dfe04ca8c8bf9e1dfa7336954ab	The patients were all minimally verbal or nonverbal and had variable neurological problems including @DISEASE$, ataxia, nystagmus, seizures, @PHENOTYPICFEATURE$, and self-injurious behaviors.	false
+dcd3609830b1f0150c076416a8e916c922339ebd	The propositi of two unrelated families are males with abnormal relative concentrations of three circulating iodothyronines, as well as @PHENOTYPICFEATURE$, including global developmental delay, central hypotonia, @DISEASE$, dystonic movements, rotary nystagmus, and impaired gaze and hearing.	false
+41ae57e18e76eaea242dc3a3324dfb5a0caaabd6	The aims of this study were to define the Faces Pain Scale-Revised (FPS-R) and Color Analog Scale (@DISEASE$) scores associated with no pain, mild pain, moderate @PHENOTYPICFEATURE$, and severe pain in children with acute pain, and to identify differences based on age, sex, and ethnicity.	false
+14027c68dfda9c31942a7a8928e0a8fb114bfb7b	Animal models of @PHENOTYPICFEATURE$ (CHL) show altered structure and function in the central auditory system (@DISEASE$), particularly following unilateral deprivation.	false
+3339ab366ec069c70bf2df0b62a34bb658851366	The purpose of this study was to evaluate the risk factors for newly developed visual symptoms after @DISEASE$, focusing on ophthalmic artery (OA) flow pattern and etiology of @PHENOTYPICFEATURE$.	false
+8e40a397eb630ffd6a8c95e18705c62932937305	Real-time cerebral oximetry with near-infrared spectroscopy (NIRS) could detect episodes of cerebral @PHENOTYPICFEATURE$ due to vasospasm and facilitate intervention for prevention of hypoxic brain injury during neuro-intervention procedures such as @DISEASE$.	false
+f715d9048063df813602165970e1c8890313443e	Thus, careful attention is needed for these patients during the perioperative period, and immediate evaluation and management are required for patients with post-@DISEASE$ @PHENOTYPICFEATURE$.	false
+e2562b4bb284ec44a5e4348d79d7487e087f3716	We defined pain scores for the FPS-R and @DISEASE$ associated with categories of @PHENOTYPICFEATURE$ intensity in children with acute pain that are generalizable across subgroups based on patient characteristics.	false
+b0dcc826acce041f02c7812f6055ea94ae003540	Postmortem X-ray and autopsy studies showed in both fetuses: 1) severe intrauterine growth retardation; 2) facial anomalies characterized by severe microcephaly, sloping forehead, low set and posteriorly angulated ears, @PHENOTYPICFEATURE$, down-slanting palpebral fissures, large nose, small mouth with full lips, and mild microretrognathia; 3) severe brain hypoplasia that was more pronounced in the second fetus; 4) severe rib hypoplasia with posterior rib-gap defects and in @DISEASE$ 2 hypoplasia of several bones (right clavicle, right radius and ulna, several phalanges of hands and feet); 5) contracture at large joints.	false
+bc32b2267ffef486790d7b74eb6a756aba1c1772	C. L. S. have been observed in isolated patients with bony skeletal and @PHENOTYPICFEATURE$, in Westerhof's syndrome, Leschke's syndrome, Cowden's disease, nevoid basal cell carcinoma syndrome, @DISEASE$, Gaucher's disease, Hunter's disease, Turner syndrome.	false
+b338737cc389f5dc2bce580af9e357a7428fa40d	In this group, the reason for persistent complaint was divided into four categories: 1) inappropriate treatment as a result of not using the measurement of esophageal pressure (Pes) in the initial diagnosis (41 subjects), 2) nonfunctional treatment (3 subjects), 3) associated @DISEASE$-like syndrome (2 subjects), and 4) emergence of @PHENOTYPICFEATURE$ and/or periodic leg movements as significant factors (135 subjects).	false
+e5e7510b69a195089317713d9e006ec2051490f8	@DISEASE$ (Segawa disease) -like disease accompanied by @PHENOTYPICFEATURE$: a case report.	false
+12b40a2163d9a8efaf39e05c01292a2d596ca870	The clinical presentations of patients with mutations in TH and SPR genes were strikingly more complex, characterized by @PHENOTYPICFEATURE$, oculogyric crises and parkinsonism and they were all classified as @DISEASE$-plus syndromes.	false
+a48fd40d37d5359595b759e13a7250667193b924	Except for one patient with @PHENOTYPICFEATURE$ and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure @DISEASE$ with onset in the lower limbs and an excellent response to low doses of L-Dopa.	false
+3e1f17a38c8e9e2627d07ef3f0b983abd28046d9	@DISEASE$ (LQTS) can cause syncope, @PHENOTYPICFEATURE$, and death.	false
+a09297c576190d67e53a218b8022b1c3a663148b	Both disorders could cause @DISEASE$ either without deafness (RWs), or with @PHENOTYPICFEATURE$ (JLNs).	false
+a6364684c3760d92e9ad6037ca68f4aea4d513a5	Both disorders could cause @DISEASE$ either without @PHENOTYPICFEATURE$ (RWs), or with deafness (JLNs).	false
+c551bc539e495bd30878cc93b1ba917790fdddb4	Molecular basis of the @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+feeb0f72c1bfb26db14d9590e5307de38369c967	Association of the @DISEASE$ With goiter and @PHENOTYPICFEATURE$.	false
+54762a6d4cde9ab9a1ed73060c836539fc3599d0	Delayed paced ventricular activation in the @DISEASE$ is associated with @PHENOTYPICFEATURE$.	false
+c551bc539e495bd30878cc93b1ba917790fdddb4	Molecular basis of the @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+7a58ddafcced8ef37f2a550d13e333725dbf128b	@DISEASE$ in children with @PHENOTYPICFEATURE$.	false
+051364026a27fa8c315cd4b761331f55b37d424c	Prevalence of idiopathic @DISEASE$ in children with @PHENOTYPICFEATURE$.	false
+e96c159f25f17d5b49c4fce1d07a683434b92f13	epilepsy, migraine, deafness, ataxia and startle disease), skeletal muscle (myotonia, malignant hyperthermia, periodic paralysis and myasthenia) and cardiac muscle (@DISEASE$ and @PHENOTYPICFEATURE$). 5.	false
+50ff347b15ff13ec33f2400644ee2569bd35bc67	epilepsy, migraine, @PHENOTYPICFEATURE$, ataxia and startle disease), skeletal muscle (myotonia, malignant hyperthermia, periodic paralysis and myasthenia) and cardiac muscle (@DISEASE$ and ventricular fibrillation). 5.	false
+24880197abc180a038bab56c91e35f4c23c908f4	Patients were admitted for symptoms (syncope, cardiac failure, or seizures), abnormal auscultation with an irregular heart rate or @PHENOTYPICFEATURE$, or because of a family history of a @DISEASE$.	false
+11a0ee829d1575be9227fe28878e83e2dce33874	Patients were admitted for symptoms (syncope, @PHENOTYPICFEATURE$, or seizures), abnormal auscultation with an irregular heart rate or bradycardia, or because of a family history of a @DISEASE$.	false
+d3c05011a7d52188ae9e4a880ebad881c2413c61	A 53-year-old woman with a history of liver abscesses and @DISEASE$ presented with Burkholderia cepacia @PHENOTYPICFEATURE$ and required a right middle lobe resection.	false
+7a98e3b7fd75ce80cc94f2db25bec2f8b901be4a	During a 4-year period, the authors examined 19 patients with @DISEASE$ and associated @PHENOTYPICFEATURE$.	false
+4928ec5c230b78bfad0eac2d3ed94f4975041d05	Over one-third of patients with drug-related eruptions had other medical illnesses associated with cutaneous granulomatous inflammation, namely rheumatoid arthritis (RA), @DISEASE$, @PHENOTYPICFEATURE$ C, diabetes mellitus, and thyroiditis.	false
+bcdee89505461e5939a036f16e91fbe009f4cd8d	Pernicious anemia, @DISEASE$, ulcerative colitis, @PHENOTYPICFEATURE$ and psoriasis were also associated with cancers at multiple sites.	false
+a457141243ab40fca71e6d82b12bd1b8061c6397	@PHENOTYPICFEATURE$ and otitis media were not independent of each other in their association with @DISEASE$ and the more important association was with pneumonia.	false
+4cb1ea0ea47c5c9a46a0dd3c26b66a6d72a22a74	The most frequent inflammatory chronic bowel diseases are @DISEASE$ and ulcerative colitis, which present extra intestinal manifestations, particularly, arthritis and @PHENOTYPICFEATURE$.	false
+f3d117809dc6b71c81c75e03a4eb175d88fd0f98	Reports of successful immune modulation suggest efficacy in a wide range of autoimmune conditions, such as demyelinating neurological disease (multiple sclerosis), @PHENOTYPICFEATURE$, and @DISEASE$, among others.	false
+9a5e3775d40523444757b9b36afec0f1b9856a2e	The humanized anti-interferon alpha antibody is a candidate therapeutic for those diseases, such as insulin-dependent diabetes, @PHENOTYPICFEATURE$, psoriasis and @DISEASE$, which are all characterized by pathological expression of interferon alpha.	false
+c516623b56ce8095ab46e7e3932a433476ea2779	@PHENOTYPICFEATURE$ in @DISEASE$ is associated with systemic inflammation, symptom burden and sleep disturbance.	false
+b494885e1dcd0b452e81e5b1107e2eab3768a56c	@PHENOTYPICFEATURE$ were also noted around her ileostomy (from surgery due to @DISEASE$) and abdominal wall.	false
+33b5bfff84e99f3887df20bdeb32b17ec65e67ac	Patients with pure @DISEASE$ had diffuse central cerebral hypomyelination with mild pontine and @PHENOTYPICFEATURE$.	false
+33f8bde0363bb3066567b89a3307ee3ad26dd113	@DISEASE$ (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and @PHENOTYPICFEATURE$.	false
+179aad0dd8e1291873b99f25e483c4a0e4a01c3d	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and @PHENOTYPICFEATURE$.	false
+cf7aba3837ec1d320030d28feac4cf2b0af444ed	We report four cases of @DISEASE$; all demonstrated hypotonia and multiple @PHENOTYPICFEATURE$ at birth.	false
+a0107007cde205d99eeccafcd0fc1b622a39f76b	@DISEASE$ with defective alpha-dystroglycan, @PHENOTYPICFEATURE$, and epilepsy.	false
+842f862c3afafae86cbe0270b031a6c8509ba40f	Deficiency of merosin (laminin M or alpha 2) in @DISEASE$ associated with cerebral @PHENOTYPICFEATURE$.	false
+7d219d06768cba465d8dc3787c4f016a28eaa6cc	@PHENOTYPICFEATURE$ may, at neuroimaging studies, be found in association with @DISEASE$ (CMD), although it is an extremely rare occurrence.	false
+c5a3d2a898230e84687abad7b7b571d650ae5e3c	@PHENOTYPICFEATURE$ may, at neuroimaging studies, be found in association with congenital muscular dystrophy (@DISEASE$), although it is an extremely rare occurrence.	false
+ac3c9cf973b6fbd3b1ee8384dddfe2590f905e9f	@DISEASE$ (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and @PHENOTYPICFEATURE$ present at birth.	false
+b2826d65731f4de673e0fe0d928422fd387415bf	Congenital muscular dystrophy (@DISEASE$) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and @PHENOTYPICFEATURE$ present at birth.	false
+afb2780f7936fae21c7d33c6b3a4f3bb95669aca	Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and @PHENOTYPICFEATURE$: a novel form of @DISEASE$.	false
+6da075744e6771e198dc935519003e152b001956	@DISEASE$ with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and @PHENOTYPICFEATURE$: a novel form of CMD.	false
+10d1e8093c856a196ef9fe2afd69c6d588b7854e	A number of nosologically less distinct forms of muscular dystrophy have been outlined such as 'pure' CMD without brain involvement, @DISEASE$ with @PHENOTYPICFEATURE$ or CMD type Ullrich with hyperelasticity of the distal joints.	false
+7246d0c880c74171aee4c78b2f0a2a8d6a30707a	A number of nosologically less distinct forms of muscular dystrophy have been outlined such as 'pure' @DISEASE$ without brain involvement, CMD with @PHENOTYPICFEATURE$ or CMD type Ullrich with hyperelasticity of the distal joints.	false
+4510e6cd4a22d459cfaa08887619df79b395e4cf	A number of nosologically less distinct forms of muscular dystrophy have been outlined such as 'pure' CMD without brain involvement, CMD with @PHENOTYPICFEATURE$ or @DISEASE$ type Ullrich with hyperelasticity of the distal joints.	false
+2f8911bc02826e200adc8f688acac65916851d34	@DISEASE$ with short stature, proximal @PHENOTYPICFEATURE$ and distal laxity.	false
+6f4ea2b8e8b987cdbec20f18ceae41bfd55f0f9a	Transplanted mice are transfusion independent, have marked improvement of hematological indices, exhibit no @PHENOTYPICFEATURE$ or signs of @DISEASE$, and are fertile.	false
+13caec77c2c85f21bce9084b3d6c361f91221e89	Hematopoietic engraftment, prognosis, @PHENOTYPICFEATURE$ (CHF), hepatic veno-occlusive disease (HVOD), graft versus host disease (@DISEASE$), hemorrhagic cystitis and infections were compared between the two groups in early stage of transplantation (within 100 days after transplantation).	false
+8a6efbf9d605e2b55296d695657e6b6c55fde9b5	Six patients (15%) died from graft failure (n=2), interstitial pneumonia (n=2), cyclophosphamide-induced @PHENOTYPICFEATURE$ (n=1), and chronic @DISEASE$ followed by pneumonia (n=1).	false
+dfb4103c0c36fd0d11719b3b070d9ca0159de53e	A section of review is dedicated to ongoing clinical trials, involving MSCs in treatment of steroid refractory Graft Versus Host Disease (@DISEASE$); periodontitis, which is a chronic disease affecting periodontium and causing destruction of attachment apparatus, @PHENOTYPICFEATURE$, and bone fractures.	false
+a13584833dc3c75680a00684ec1dc59255d0c0ec	The glyco-isoforms of intact apolipoprotein C3 (ApoC3) were used to probe glycomic changes associated with @PHENOTYPICFEATURE$ and recovery following bariatric surgery, liver diseases such as chronic hepatitis C (CHC) and alcoholic liver cirrhosis, as well as severe, multiorgan diseases such as sepsis and graft vs host disease (@DISEASE$).	false
+20886d40adae2982e486a3aa69c79c6153ad2438	Disorders of mitochondrial import, export and translation, including sideroblastic anemia with @PHENOTYPICFEATURE$, @DISEASE$ and mitochondrial complex I deficiency due to nucleotide-binding protein-like protein gene defect, have also been implicated in ISC biogenesis defects.	false
+82d5476396330e8ad7094d980b4bf9d8a5f3e6d3	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and @PHENOTYPICFEATURE$; and neurodegeneration.	false
+c618fd3fcb76fea8c38c59fee41726f723d86030	@PHENOTYPICFEATURE$ and @DISEASE$ have also been occasionally associated with adrenal insufficiency (triple A syndrome).	false
+d61b575477ad74d1c86ee0824d2888b2c24d0e86	Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II @DISEASE$ and proposes that a variable @PHENOTYPICFEATURE$ onset, proportionate short stature, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1.	false
+a5744c0bcd8aa2ee8e10b8a0688d834cb18d68b3	Fatty liver, @PHENOTYPICFEATURE$, and sudden unexpected death in early childhood due to @DISEASE$.	false
+59cbb2a76f2885eb8deeae0062a823042cbaef3a	@DISEASE$ is a rare neurocutaneous disorder characterized by spinal @PHENOTYPICFEATURE$ in association with a vascular lesion of the skin at the same metamere.	false
+571e94a94c6ce3fd085b02d898e8098c83e93b7c	Primary intracranial @PHENOTYPICFEATURE$ (ES)/@DISEASE$ (pPNETs) are extremely rare, and only a few studies have reported >4 cases of this disease.	false
+6151d5a125a65570da783629f3e32a4958100299	A 7-year-old girl with clinical signs limited to moderate unilateral proptosis of 2 weeks duration and ipsilateral disc @PHENOTYPICFEATURE$ was found to have a contiguous orbital and subfrontal intracranial tumor best characterized as a @DISEASE$ by recent studies.	false
+47b33d460ed4ff98c40cc8ef3a269755db0cb536	@DISEASE$ in children: a systematic review of clinical features and @PHENOTYPICFEATURE$.	false
+2e0b19d9e6f35be3da789d9f816926d3cf1bef40	To ascertain clinical features of @DISEASE$ (CRPS) in children with a focus on @PHENOTYPICFEATURE$.	false
+c2bd3a80acc85856e1f930667a805f021d5dbeec	@DISEASE$ (CRPS) is clinically characterized by pain, abnormal regulation of blood flow and sweating, edema of skin and subcutaneous tissues, active and passive @PHENOTYPICFEATURE$, and trophic changes.	false
+767939a4d93705739a5e309c8b4755c285021eda	Patients with @DISEASE$ (CRPS) often suffer from an array of associated @PHENOTYPICFEATURE$, including dystonia of an affected limb.	false
+bb8fbcdc5e92d16f5ffb04db29565857a2c32253	@DISEASE$ (CRPS) may lead to @PHENOTYPICFEATURE$ (MDs) in some patients.	false
+f48725b3bf0e7d26aaad1a53340d737e40c3c1e3	@DISEASE$ is characterized by pain, allodynia, hyperalgesia, edema, signs of vasomotor instability, @PHENOTYPICFEATURE$, joint stiffness, and regional osteopenia.	false
+b6e242e25c1ee638d7441d45aad27dc430c4a63d	@DISEASE$ (CRPS) is the complication of some injuries, such as a fracture, which affects the distal end of the injured extremity characterized by pain, allodynia, hyperalgesia, edema, abnormal vasomotor and sudomotor activity, @PHENOTYPICFEATURE$, joint stiffness, regional osteoporosis, and dystrophic changes in soft tissue.	false
+7fab0f2fd144e80e17e53bc8e88bc1e8610a15f8	The aim of the present study was to review the history, clinical course, treatment, and outcome of @PHENOTYPICFEATURE$ in children and young people with @DISEASE$ (CRPS).	false
+602531ea2fd108e0c91d195947909d81b15fdac1	@DISEASE$ (CRPS) is clinically characterized by pain, abnormal regulation of blood flow and sweating, edema of skin and subcutaneous tissues, trophic changes of skin, appendages of skin and subcutaneous tissues, and active and passive @PHENOTYPICFEATURE$.	false
+902f69c8d1914592cd168ed414c384c5813f52dc	Of this total number of tumors, according to their histopathologic examination, 185 corresponded to pleomorphic adenoma, 24 to Warthin's tumor, 10 to recurrent pleomorphic adenomas (at first operated on elsewhere) and 44 to miscellaneous tumors or tumor-like lesions (simple cyst, lymphoepithelial lesion, @DISEASE$ cysts, @PHENOTYPICFEATURE$ etc.).	false
+15e84af7ae2537263a213010999c2a25e0977d7a	A patient who presented with a new apparent @PHENOTYPICFEATURE$ was found to have abnormal electrocardiographic findings, with classic features of the @DISEASE$.	false
+373bde11b9a71ad3eacae59df1fc6003b4b8316c	@DISEASE$ in a black man with @PHENOTYPICFEATURE$ and urinary incontinence.	false
+57c5cbb2b9bbd46451f56559aa269f1ece3d1f0a	The phenotype differences from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, @PHENOTYPICFEATURE$ type B or Robinow syndrome, and cardiac conduction disease or @DISEASE$ loci suggest that we report on a new hereditary heart-hand syndrome.	false
+9918c903df1bd82e10ce7a0a304b8d28a39a0d97	The L450F [Corrected] mutation in KCND3 brings spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$ closer together.	false
+c23114566402ddd805750c49f85cc46e394d6713	Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar @PHENOTYPICFEATURE$ and @DISEASE$ closer together.	false
+bb08c1e9217fe0d789b1bd91b01673c3a941c154	[A case of @DISEASE$ with convulsive @PHENOTYPICFEATURE$ during antidepressant administration: relation of antidepressant agents and arrhythmia leading to sudden death].	false
+629877cac3d618a2afd9b70a974fd78bfca81b61	@PHENOTYPICFEATURE$ are uncommon clinical manifestations of Brugada syndrome, and reports of status epilepticus as initial presentation of @DISEASE$ are extremely rare.	false
+e327f6425339e4950eb7c5cd6e1971da23477831	@PHENOTYPICFEATURE$ are uncommon clinical manifestations of @DISEASE$, and reports of status epilepticus as initial presentation of Brugada syndrome are extremely rare.	false
+fa851e864d4facb9718f597a11cf66f889dd4c95	@DISEASE$: a case study of aborted sudden cardiac death manifesting as @PHENOTYPICFEATURE$.	false
+67eb505ec8698f39f61fdfb8e3b49b2c3b185237	We presented a case of @DISEASE$ with a convulsive @PHENOTYPICFEATURE$, during administration of a tricyclic antidepressant for the treatment of a depressive state.	false
+f7edca7d05e9ef333570701199b64a0cc07c2fc8	We describe a case of @DISEASE$, in which recurrent syncope with convulsive @PHENOTYPICFEATURE$ was induced after antidepressant treatment.	false
+3e36cb7dcc16935aa9ae1ef1b659525d2938ca32	Interestingly, in addition to the typical facial gestalt reported in other @DISEASE$ deficiency cases, the older brother presented with congenital left Horner syndrome, bilateral @PHENOTYPICFEATURE$ and cataract, which have not been previously reported in this condition.	false
+23110037974b11e24560e12442344d02a91846fd	Depression, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bc1d1363d55357481141d10883b79dc3fec2b578	Evolution of mild @PHENOTYPICFEATURE$ in @DISEASE$.	false
+de29853ff99eae3b3662155b82dc868cc6ebeace	@PHENOTYPICFEATURE$ and its relation to cognitive impairment in @DISEASE$.	false
+e4c7f8ad76425518a510b101931ef18d5983e9dd	Parkinson disease: Plasma ?-synuclein - a potential marker of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6e3c4863c9075966d0e8ff8d940efc28dfe47030	@DISEASE$: Plasma ?-synuclein - a potential marker of @PHENOTYPICFEATURE$ in Parkinson disease.	false
+d2b8f83f2f9ecb1b18dbebf6faf1f0af1652196c	[@PHENOTYPICFEATURE$ and dementia in @DISEASE$].	false
+a138744e35af52352a26bdef932177c8deb098ab	While the phenotype of @DISEASE$ (PD) is @PHENOTYPICFEATURE$, treatment approaches are mostly uniform.	false
+3109a93660e5acd7239cc8a0c9ff2ce2245616ee	@PHENOTYPICFEATURE$ and hypometabolism have been described in patients with @DISEASE$ and dementia or mild cognitive impairment with respect to control subjects.	false
+d2dd179387c6adbd8190a583926aa8389f44425d	Cerebral atrophy and hypometabolism have been described in patients with @DISEASE$ and dementia or mild @PHENOTYPICFEATURE$ with respect to control subjects.	false
+23110037974b11e24560e12442344d02a91846fd	Depression, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+cbaebaf4695785c3931a965ff0ff181349473065	[Dementia and @PHENOTYPICFEATURE$ in @DISEASE$].	false
+57c39047942d29c74d0a0a2fea73216f822e674f	[Studies of @PHENOTYPICFEATURE$ and regional cerebral blood flow in patients with @DISEASE$].	false
+55bcd99ecf24d460d7d0948b8b80963360a38a1f	Although in the most recently updated (2006) APS classification criteria, the neurological manifestations encompass only transient ischemic attack and stroke, diverse 'non-criteria' neurological disorders or manifestations (i.e., headache, migraine, bipolar disorder, transverse myelitis, dementia, chorea, epileptic seizures, multiple sclerosis, psychosis, @PHENOTYPICFEATURE$, @DISEASE$, parkinsonism, dystonia, transient global amnesia, obsessive compulsive disorder and leukoencephalopathy) have been observed in APS patients.	false
+6f6d1865ee3065861fe269f0f7bc73695125dc03	Patients develop a @PHENOTYPICFEATURE$ disorder and also complex psychiatric symptoms, such as psychosis or @DISEASE$.	false
+afa30f4efc1bb26750342885564f66d3282dd762	Autism spectrum disorders, ADHD/DAMP, @DISEASE$, and a variety of @PHENOTYPICFEATURE$/neurological syndromes with severe behavioral/emotional symptoms are included among the child neuropsychiatric disorders, the majority of which will lead to ongoing social and academic problems in adult life.	false
+dbc045700e3eed5a0bae6e66d4f99cba378a9f0e	There is evidence to indicate cannabis in the treatment of pain, spasticity, seizures, sleep disorders, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+83277efdc167e841a4a9b5470b78336156748a10	Pulmonary artery stenosis, pulmonary arteriovenous fistulae (PAVF), systemic-pulmonary veno venous shunts (@DISEASE$), hepatic congestion, cardiac @PHENOTYPICFEATURE$, and protein-losing enteropathy are potential extracardiac complications.	false
+5ede0d07ce0695dda0070da15ba8b9f1892a3891	However, spontaneous @DISEASE$ during HUT is characterized by @PHENOTYPICFEATURE$, pronounced increases in epinephrine and vasopressin during early HUT phase, and higher frequency of reflex asystole.	false
+cab5803f8ba96383d8f4a3fd6678e74e72ade2ab	Maternal and paternal PHG, alcohol consumption, presence of chronic disease, educational status, @PHENOTYPICFEATURE$, perceived stress scale (@DISEASE$) score, age, and height were significantly higher in subjects with PHG.	false
+06a3891b40cd553e08f4c12c0465f07b0dfca6b6	The presence of the fever and anti-DNS antibodies correlated with SLE (P = 0.0104, Fisher exact test), arthritis/@PHENOTYPICFEATURE$ and anti-RNP antibodies with MCTD (P = 0.0302), Raynaud phenomenon and ANA positivity with @DISEASE$ (P = 0.0144), xerostomia/xerophtalmia and anti-SSA/SSB antibodies with Sj?gren syndromes (P = 0.0144).	false
+a16f04fd2476d81c65cdb2ba94315f2316fcf09b	Secondary outcomes were other physiological parameters (heart rate, blood pressure, respiratory rate, and NT-proBNP), subjective health status (SF-36), perceived stress (@DISEASE$), psychological well-being (HADS), social support (PSSS12) and a composite endpoint (all-cause mortality, heart failure, symptomatic @PHENOTYPICFEATURE$, cardiac surgery, and percutaneous cardiac intervention).	false
+bdb8e7aa9d623afd0cc5892b8d29e68331dd74a7	Recent desmosomal genodermatoses described include lethal congenital epidermolysis bullosa (plakoglobin), cardiomyopathy with alopecia and palmoplantar keratoderma (plakoglobin), @PHENOTYPICFEATURE$ with scalp vesicles (desmocollin 3), and generalized @DISEASE$ (corneodesmosin).	false
+25d674bf68a066bb893bd884491b88047d7d5e6b	Progressive systemic sclerosis (@DISEASE$) is an inflammatory disease of connective tissue, with onset as @PHENOTYPICFEATURE$ that continues with fibrosis, induration, and skin atrophy, followed by attacks on the joints, internal organs, and secondary proliferation of connective tissue.	false
+6f70bab969f76c27676d33e9363d900b56f423b0	A 27-year-old, full-term pregnant woman with progressive systemic sclerosis (@DISEASE$) came to the hospital with marked proteinuria and @PHENOTYPICFEATURE$.	false
+5cc87dc9d0a435626aab3afb657ff3f0bd97e01f	We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, Marfan syndrome, @PHENOTYPICFEATURE$ Type I, and @DISEASE$.	false
+15412cb9f8f1d7f53138711656e14720ce224040	In addition, most of the occasional symptoms described in Kallmann syndrome patients, such as cerebellar ataxia, abnormal @PHENOTYPICFEATURE$ spatial visual attention, mirror movements, and @DISEASE$, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	false
+be82f84b0f4ab306196470440766ff7fecdeff05	Using a next-generation sequencing strategy, we identified a novel KAL1 missense mutation (p.His568Gln) in a patient with combined pituitary hormone deficiency, right @PHENOTYPICFEATURE$, right @DISEASE$ and severe developmental delay.	false
+8aa117531105f17eb9990ff2c426e6715867d0ae	Evaluation revealed left @DISEASE$ and @PHENOTYPICFEATURE$ affecting both ears.	false
+8345d78f56a592f3938a1350cdc56ea3eb19dca4	Report on a female infant with iris coloboma on the right and @PHENOTYPICFEATURE$/orbital cyst on the left, single nostril, radial defectis, abnormal lung lobation, congenital heart defect, hypoplastic spleen, absent gallbladder, microgastria, unilateral @DISEASE$, arhinencephaly and fused thalami.	false
+0b56a135632a2900555d45dfe20b09f184cc83a8	We report on a fetus with alobar holoprosencephaly, @PHENOTYPICFEATURE$, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral @DISEASE$, absent gallbladder, vertebral anomalies, and absence of ribs.	false
+65ea57ceca2527dafb709df4ce79700616e28a73	@DISEASE$ patients with RHS showed higher frequencies of leukopenia, anemia, thrombocytopenia, @PHENOTYPICFEATURE$, hypofibrinogenemia, hypertriglyceridemia, hyperferritinemia, and elevated lactate dehydrogenase levels than did those without RHS.	false
+5e24c1a997d5ff4cf52ae953ba7d669fd8a4fdd5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+c88ad64682cb6d443ca4f4c570265aee0f0e8117	Symptoms of @DISEASE$ are @PHENOTYPICFEATURE$, loss of visual and auditory functions, and cerebral convulsions.	false
+d12f0d3b434200d534b0ad3e78420c27f866c093	@DISEASE$ accounts for 0.85% (1/118) of the patients with molecularly unassigned hereditary ataxia and 0.34% (1/296) of the patients with sporadic @PHENOTYPICFEATURE$ with autonomic dysfunctions.	false
+2067747d68a0fea2395b472b8b6e167ea5aeb284	@DISEASE$ accounts for 0.85% (1/118) of the patients with molecularly unassigned hereditary @PHENOTYPICFEATURE$ and 0.34% (1/296) of the patients with sporadic ataxia with autonomic dysfunctions.	false
+93a746933e870ac61059e286a800b16af1894e77	We report a 30-year-old man with adult type adrenoleukodystrophy (@DISEASE$) who manifested an acute onset and repeated episodes of @PHENOTYPICFEATURE$ dysarthria.	false
+440f07f643e9e290d9bd4a19fe39693c41ba23e2	We report a 30-year-old man with adult type adrenoleukodystrophy (@DISEASE$) who manifested an acute onset and repeated episodes of ataxic @PHENOTYPICFEATURE$.	false
+501f159bbe7f82ff586a49dd7884dec0c5f68bd9	Two brothers are described in whom adrenoleukodystrophy (@DISEASE$) presented as progressive @PHENOTYPICFEATURE$ in early adult life.	false
+b2aa6b5e79953e92ab09affca1aaa7fc972d496e	Chronic alcohol abuse and its progression to @DISEASE$ are associated with @PHENOTYPICFEATURE$ and low tissue or plasma levels, or both, of many micronutrients.	false
+9334a52ce1c3a430eecb3bc5bc1399e4f62a3405	Prader-Willi syndrome, Friedreich's @PHENOTYPICFEATURE$, spinal muscular atrophy (SMA), fragile X syndrome, @DISEASE$ (ALD), and SCN1A gene-related epilepsies.	false
+1d40473ffa3e7f2247c55458c49c49b650cf01c6	Prader-Willi syndrome, Friedreich's @PHENOTYPICFEATURE$, spinal muscular atrophy (SMA), fragile X syndrome, X-linked adrenoleukodystrophy (@DISEASE$), and SCN1A gene-related epilepsies.	false
+6989cd781f4b71733d12de279fe74e9352011dc7	We report a patient with a rare variant of adult onset @DISEASE$ who was previously diagnosed as spinocerebellar @PHENOTYPICFEATURE$.	false
+c88ad64682cb6d443ca4f4c570265aee0f0e8117	Symptoms of @DISEASE$ are @PHENOTYPICFEATURE$, loss of visual and auditory functions, and cerebral convulsions.	false
+8aafcc3252bc9b4090ecc7c498b1507e6dbca8ad	This study expands the mutational spectrum of AVALD and underscores the importance of considering @DISEASE$ as a potential etiology of @PHENOTYPICFEATURE$.	false
+b7e02c2994d02334c53367c0536e8793ec42b214	@DISEASE$ prevalence patterns were complex and were modified by race, elderly/@PHENOTYPICFEATURE$ status, and the extent of health care access and screening capacity in the county of residence.	false
+9bb75fe0bff870e4eee2581a4a3883233265fb05	An elderly case of @DISEASE$ (IRPF) with bilateral @PHENOTYPICFEATURE$ was reported.	false
+95792aa56d7d0bbccde04445614cf256491d00df	Late-onset sporadic @PHENOTYPICFEATURE$, pontine lesion, and @DISEASE$: a case of Erdheim-Chester disease.	false
+b7c6ca2a005aae737245c77b6e56a05d64fbe99d	@DISEASE$ (IRF) is an inflammatory and fibrosing process that can be complicated by periureteral encasement, @PHENOTYPICFEATURE$, and subsequent renal failure if left untreated.	false
+a1ab78b9bc6a78e289161951d08124a1453af327	Aortic aneurysm with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b9bab67a887fb60d27146e4073bb0514a07ed46a	@DISEASE$ (RPF) is an uncommon cause of @PHENOTYPICFEATURE$.	false
+2db11b528806f0a67cdce984e39a50069efd549d	@PHENOTYPICFEATURE$ is a common finding in @DISEASE$ (RPF).	false
+c77b04fc08470f104cbb79f6cbd2de90fe037277	@DISEASE$ is rarely considered in the differential diagnosis of @PHENOTYPICFEATURE$ in children even when clinical presentation and radiologic findings are typical.	false
+674d52e426116e592c9588dcf8b5d4b7d74ec6e5	@DISEASE$ may develop in patients with bilateral @PHENOTYPICFEATURE$, especially those who have received drugs that have been reported to cause the foregoing condition.	false
+dd5aa0814bd00b2cfd2f91f9b972e4e6f5bfc3d7	It is the third aneurysm resected with such an anomaly, and to our knowledge the first to be associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9dabd9176eb75079dc8a5e2f6041f66f8eb6c39e	Similarly, the outcome for patients with benign bilateral @PHENOTYPICFEATURE$, usually caused by @DISEASE$, was good with proper management.	false
+e66d24c4fc5e28cda898d0b958482d99afc51134	This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, @DISEASE$ (spondylocostal dysostosis), lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and @PHENOTYPICFEATURE$.	false
+e10e3f67b53148e7f4c427afda4c8b296da663d9	This study aimed to assess the relationship between bone marrow @PHENOTYPICFEATURE$ (BME) on magnetic resonance imaging (MRI) and bone mineral density (@DISEASE$) in patients with ankylosing spondylitis (AS).	false
+37b8e3fe08f3096e0db14d1ea0b0774599367413	Alpha-viniferin suppressed the development of inflammatory @PHENOTYPICFEATURE$, and inhibited the bone destruction, noted with a decrease in @DISEASE$ (p < 0.05).	false
+8ee99fe8d94e37cce40c9110a0af37c244a81c39	Our data support a model of higher constitutive melanin density underpinning a less @PHENOTYPICFEATURE$ phenotype, permitting greater sun exposure with fewer sequelae and yielding higher 25-hydroxyvitamin D and, potentially, total body @DISEASE$.	false
+5ca8494243a2df92b0e94ea8122ff9bf043faeaf	The percentage of @PHENOTYPICFEATURE$ inhibition declined proportionally with flux of @DISEASE$ in the following order: ME-hydrogel (44.56???8.08%) > NLC-hydrogel (35.93???7.22%) > SLN-hydrogel (25.68???9.05%).	false
+a56eeb646e4a5ab4c248f45e1de5364cfa717835	Patients with low @DISEASE$ showed significantly higher bone marrow @PHENOTYPICFEATURE$ (BME) and deep BME scores on MRI than those with normal BMD (p?<?0.047 and 0.007, respectively).	false
+e8e39d3b1348b1c78f64092fcccd0131b1766efe	Patients with low BMD showed significantly higher bone marrow @PHENOTYPICFEATURE$ (BME) and deep BME scores on MRI than those with normal @DISEASE$ (p?<?0.047 and 0.007, respectively).	false
+c2619e2b1c6789640b6bd123b8cbfad0b0c0530f	While the initiated asfotase alfa treatment was followed by rapid clinical improvements (i.e., disappearance of bone marrow @PHENOTYPICFEATURE$, increase of muscle strength), the @DISEASE$ assessed by DXA at the hip and spine increased moderately at two years follow-up.	false
+a7cb56bfd62cc655da8b8160643e1616f2d1b6df	Hind paw @PHENOTYPICFEATURE$ volume, @DISEASE$ and radiological changes did not differ significantly in the ketoprofen and alpha-viniferin groups during the entire study period.	false
+d1ad42cf78f13c6f6fbe804d728b7406f968778c	This study demonstrated the decrease of bone mineral density (BMD) in the type II collagen (CII)-induced arthritis (CIA) model in rats and the relationship between @DISEASE$ and paw @PHENOTYPICFEATURE$ and the effect of dexamethasone-21-phosphate (DEX).	false
+1fb20ea85b6e93216b187e99b3d2271dda903c51	This study demonstrated the decrease of bone mineral density (@DISEASE$) in the type II collagen (CII)-induced arthritis (CIA) model in rats and the relationship between BMD and paw @PHENOTYPICFEATURE$ and the effect of dexamethasone-21-phosphate (DEX).	false
+916c7b83bcaaa493a01f65acf16eb0d25807141b	The individual had a history of @PHENOTYPICFEATURE$, bowel and bladder incontinence, reduced bone mineral density (@DISEASE$) for age, and spinal deformity at the time exercise was initiated.	false
+b46980bbfdc656e60ba08c9e17494a5377ed2295	Severe bone marrow @PHENOTYPICFEATURE$ on sacroiliac joint MRI increases the risk of low @DISEASE$ in patients with axial spondyloarthritis.	false
+715775b983e2249ab81a3cdd651e4adeeac5bfa4	In humans, SHOX deficiency has been associated with various short stature syndromes including Leri-Weill dyschondrosteosis (LWD), @DISEASE$ and Turner syndrome as well as non-syndromic idiopathic @PHENOTYPICFEATURE$.	false
+a56578e6b90585a10e90f82e5f8fd7405104e6f8	In humans, SHOX deficiency has been associated with various @PHENOTYPICFEATURE$ syndromes including Leri-Weill dyschondrosteosis (LWD), @DISEASE$ and Turner syndrome as well as non-syndromic idiopathic short stature.	false
+e65c535dfae844d5b84ccbd1c434042ac16152fc	The haploinsufficiency of SHOX is correlated with @PHENOTYPICFEATURE$, Leri-Weill dyschondrosteosis, and @DISEASE$.	false
+9530eaf79a99969835bd21fdc3669b9332f27183	In addition, SHOX deficiency is associated with idiopathic @PHENOTYPICFEATURE$, Turner syndrome, and @DISEASE$.	false
+02b2cda8540bc4571a3a9e5c1df937a15dfc9ac0	Although originally described as causing idiopathic @PHENOTYPICFEATURE$, SHOX mutations are also responsible for growth retardation in L?ri-Weill dyschondrosteosis, @DISEASE$ and Turner syndrome.	false
+5bf31b43c1d19b9bb8f22d305406ac1ca8c8428b	Although originally described as causing idiopathic @PHENOTYPICFEATURE$, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in L?ri-Weill dyschondrosteosis and @DISEASE$.	false
+763891efb4bf85ccff169fd62903964d3878c914	Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated @PHENOTYPICFEATURE$, L?ri-Weill dyschondrosteosis, and @DISEASE$.	false
+e259d5292981563b0a58bb78c251917243858cfb	Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and @DISEASE$, which are also present in idiopathic @PHENOTYPICFEATURE$.	false
+f053c398058ba9fe075c486c36311ec229954105	Mutations within the SHOX gene cause L?ri-Weill dyschondrosteosis (LWD) and @DISEASE$ (LD) as well as idiopathic @PHENOTYPICFEATURE$ (ISS).	false
+b490f262a9c23f8a2c8f2d54bfaefd5b641af39b	Homozygous loss of SHOX results in the more severe @DISEASE$, while SHOX haploinsufficiency cause a wide spectrum of @PHENOTYPICFEATURE$ phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS).	false
+abe702bd816d9ffb8d964c7c8b5bd01318f61bd6	Homozygous loss of SHOX results in the more severe @DISEASE$, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic @PHENOTYPICFEATURE$ (ISS).	false
+6820378f939df89416646466c035e9b780f988d2	Haploinsufficiency of the SHOX gene causes @PHENOTYPICFEATURE$ with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to L?ri-Weill syndrome, and with no functional copy of the SHOX gene, @DISEASE$.	false
+673716e3da8e4d577c42bb1b68f1a4c2c84cdab2	Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated @PHENOTYPICFEATURE$ without dysmorphic features to L?ri-Weill syndrome, and with no functional copy of the SHOX gene, @DISEASE$.	false
+5798cc6c38db944b46816b688363d3d9310061bc	@DISEASE$ with minimal @PHENOTYPICFEATURE$.	false
+c3a5cb3500127ffb387343fae8fa5c8135a68a69	Syringopleural shunting is suggested in amenable cases of syringomyelia associated with spinal @PHENOTYPICFEATURE$, trauma or @DISEASE$.	false
+ddb97ab7f227b6789ec23d02afeef957d97ebbc3	The continued evolution of myeloscopy was thought to be essential for the treatment of @DISEASE$, large herniated disc disease, and intrathecal @PHENOTYPICFEATURE$ pathology.	false
+3b1ed1ad3cec2f41805a7e5da87a17de815a77c9	The aminoacid content of cerebrospinal fluid (CSF) was studied in 51 patients with the epileptic syndrome in conjunction with @PHENOTYPICFEATURE$ and cerebral @DISEASE$.	false
+974b5fdb282815e019c25eb896b138b1d36cd399	[Hearing disorders in patients with @DISEASE$, @PHENOTYPICFEATURE$ of the cerebellopontile angle and noninflammatory labyrinth disorders].	false
+4438dacbf7ccb2fa85854da3dfb2b52b5262df78	@DISEASE$ and hydrocephalus in the surgical management of acoustic @PHENOTYPICFEATURE$; a plea for early operation.	false
+0d0e9a8f769174d1de91a1e3a108c8e7dde1a602	Spinal cord cysts are a devastating condition that occur secondary to obstructions of the spinal canal, which may be caused by congenital malformations, trauma, spinal canal stenosis, @PHENOTYPICFEATURE$, meningitis, or @DISEASE$.	false
+3e0c5a8d59aa7427d3b737c813e82a569997fedc	Twenty-two tethered cords, 14 inclusion @PHENOTYPICFEATURE$, and 6 patients with evidence of @DISEASE$ were found intraoperatively.	false
+1742f9b073fa2bbfee4a2b2a4944c1f1572b5c62	Chronic @DISEASE$ may follow intraspinal surgery for disc, @PHENOTYPICFEATURE$, and closure of myelomeningocele, eventually producing pain and declining neurological status of the patient.	false
+f7ba9d0235b34dce107c172344dc2dfe82e17c0d	@DISEASE$ presenting as a cerebello-pontine angle @PHENOTYPICFEATURE$.	false
+f4dcd00f5e2d9f8629e063c7b7d0298e398158a8	These studies permitted to depict hydrocephaly, basal and convexital @DISEASE$, asymmetrical ascites, local dilatation of the third ventricule, a dislocation and deformation of the ventricules in @PHENOTYPICFEATURE$ and intracranial hematomas, sequalae of closed brain injuries.	false
+7284dc1536827dbf1bbd72c3e39ff053b34866e8	Therefore, we assessed the generality of the @DISEASE$ by replicating the intervention in children with @PHENOTYPICFEATURE$ and FS.	false
+51efef99a998caf99073d318ffceb1d4fba40270	Furthermore, SLE patients who developed pulmonary hemorrhage, pulmonary @PHENOTYPICFEATURE$, psychiatric involvement, complement deficiency, and @DISEASE$ also had higher mortality, regardless of gender.	false
+f96ba30f030c8b25a01881efcc51ff6b8c79f375	In addition, infections caused by arthropod vector viruses including @PHENOTYPICFEATURE$ C, West Nile, Dengue fever, @DISEASE$ and Japanese encephalitis are emerging throughout the world.	false
+ca214b77f419c898def32424112259482d55e218	Simultaneous occurrence of congenital @DISEASE$, @PHENOTYPICFEATURE$, and Wilms' tumor.	false
+a6dce89ed036f033c143ed34816be3c698cfa011	Out-of-hospital @DISEASE$ in children with @PHENOTYPICFEATURE$.	false
+b706480d9751d60dc9cc90b6646cd6ce03f694d8	[Atrioventricular @DISEASE$ in @PHENOTYPICFEATURE$].	false
+2c0bac094b560ab14b65e3077ece0f6f3e636578	Male patients had a higher incidence of sustained ventricular tachycardia and @PHENOTYPICFEATURE$ or @DISEASE$ as initial manifestations.	false
+419b4534c64890fcb9df36daef6495b4c1cc4596	In adult cardiac arrest victims, the most frequent cause of @DISEASE$ is ventricular dysrhythmia, either ventricular tachycardia or @PHENOTYPICFEATURE$.	false
+24046a8d33d2d5b72cd3aae968a25d50140787f8	Patients with myotonic dystrophy type 1 have several @PHENOTYPICFEATURE$, especially myocardial @DISEASE$.	false
+f4784bd156b6cc9be737c9e475c252ad46ca899d	[Arrhythmia and @DISEASE$ in the children with @PHENOTYPICFEATURE$].	false
+5bbc1d38268c708ae59eb0ad18952937b7fea334	All 3 infants survived @DISEASE$ secondary to multiple episodes of polymorphic ventricular tachycardia and @PHENOTYPICFEATURE$.	false
+1e1e29f95a23bf485cb3459482e93fff5ffe1133	In most cases it presents with sudden death, arrhythmias, @DISEASE$, @PHENOTYPICFEATURE$ or cardiomyopathy.	false
+fdabb5317938f7952574ec62f0f8bbe3569ac5e0	In most cases it presents with sudden death, arrhythmias, @DISEASE$, heart failure or @PHENOTYPICFEATURE$.	false
+a61323b33166e670ad0c81efc45332003ef05216	Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; @DISEASE$ is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--@PHENOTYPICFEATURE$ syndrome due to a mutation within the L-ferritin gene.	false
+56d8be0ab697b1f59c96a3e7b45d40883dc3cf67	Genetic disorders are twice as frequently diagnosed in @DISEASE$ patients with upper @PHENOTYPICFEATURE$ than in those with other anomalies.	false
+1b8ebda0c7554292562221bb66bb2e88bbc90f15	? Not all upper @PHENOTYPICFEATURE$ in @DISEASE$ patients are part of the VACTERL association; a workup for genetic evaluation is proposed.	false
+e87bba04d177e699a0dd7f6316dd01d14bc461ff	[Possibilities and limitations of roentgen diagnosis in shoulder-@DISEASE$ syndrome and other painful @PHENOTYPICFEATURE$].	false
+0ddfab4cf2b9ef09b3570c491c0515fea42953b4	Furthermore, our findings might indicate that @DISEASE$-NT individuals also suffer from some sort of @PHENOTYPICFEATURE$.	false
+e1d6da9f6b42f1b165f9bbd63cd4539c2fa1afcb	The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper @PHENOTYPICFEATURE$ to that in @DISEASE$ patients with other associated anomalies.	false
+988a1dd06872813796e1aa841b9a9809708b9cc8	The energy depletion model presented here ties together such diverse elements as: dose-response aspects of phototherapy, anergia as a primary symptom of @DISEASE$, 'spring fever', myofascial @PHENOTYPICFEATURE$ disorder, the anti-gonadotrophic effect of melatonin, and pineal supersensitivity in bipolar patients.	false
+dab51805d2beafc88e0925fc0015c8a1930786a5	The study showed a highly significant association between @PHENOTYPICFEATURE$ and SPAQ-defined SAD parameters, supporting the hypothesis that decreased retinal light input plays a role in the pathogenesis of @DISEASE$.	false
+6f877aad327cf7c931bccad40c065a37b5fb44ff	@DISEASE$, and bilateral @PHENOTYPICFEATURE$.	false
+b8c7b02c6406f46795fc3e76a86b13e26279ec72	A strong @PHENOTYPICFEATURE$ in WSS and WSSG is predicted across the networks, with the highest @DISEASE$ occurring in precapillary bifurcations and capillary vessels.	false
+d339d36d610d73784250bd4ffcf2aaa61e468dcd	A strong @PHENOTYPICFEATURE$ in @DISEASE$ and WSSG is predicted across the networks, with the highest WSS occurring in precapillary bifurcations and capillary vessels.	false
+6145c87a12ecdd84348ffb848e048c98be010b6b	With this in mind we hypothesized that this vascular pathology could be directly detected in the arteries contributing to the cerebral circulation of mild @PHENOTYPICFEATURE$ (MCI) and AD patients by means of wall shear stress (@DISEASE$) measurements.	false
+a5901142a23c449e5dfe5ebed79a39234eef0947	Late-infantile neuronal ceroid lipofuscinosis (@DISEASE$ disease) is a hereditary neurological disorder characterized by progressive retinal degeneration and vision loss, cognitive and motor decline, seizures, and pronounced @PHENOTYPICFEATURE$.	false
+c42a4f74278fc217e6275b044425662f4680e3cb	Mutations in CLN6 cause @DISEASE$ (LINCL), and teenage and adult onset NCL without @PHENOTYPICFEATURE$.	false
+f8647248c5ea1b25fe28335cc3ad6d94b2e0a512	These results are parallel with many features of cystinosis, such as early onset @DISEASE$, male infertility, diabetes mellitus and @PHENOTYPICFEATURE$.	false
+823a0788dd78b29ac7e8c3a22fb15d7dcc97b4e3	Mean patient age was 62.4 + 13.4 years (range 29-88 years) and 76% (n = 26) were male.The most common comorbidities were @PHENOTYPICFEATURE$ (n = 20), @DISEASE$ (n = 19) and hypertension (n= 13).	false
+e8e7dde1029cab05fa8a1701dd3c67a68afa13cd	A 60-year-old white man with schizophrenia, cerebrovascular disease, @DISEASE$, and @PHENOTYPICFEATURE$, developed rather acutely bilateral clenched fists in the aftermath of a traumatic dislocated hip fracture that was operated on.	false
+4816ee6b0306f7a460aabd80aca71beb0cf086d5	[Purpose] The effects of vitamin D on the circulating levels of IL-17 and IL-13 were investigated in patients with diabetic @PHENOTYPICFEATURE$, patients with @DISEASE$ without neuropathy, and healthy controls.	false
+5f8f17fdc5e6ba4db375df1f75357391fec5d022	Cytokine production capabilities of human primary monocyte-derived macrophages from patients with @DISEASE$ with and without diabetic @PHENOTYPICFEATURE$.	false
+7e52826feda0e210f6cf787ef459893d502af8e7	To examine whether the neuropathological and metabolic changes of peripheral nerves are correlated to clinical features in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+c8955fb07ae359cf1faa2e40d87e6ce6508e3399	Alterations in adult hippocampal neurogenesis, aberrant protein s-nitrosylation, and associated spatial @PHENOTYPICFEATURE$ in streptozotocin-induced @DISEASE$ mice.	false
+d473093221b133a56fe29b4ae6321bf53007dedf	This study aimed to investigate the extensor and flexor torque of the knee and ankle during concentric, eccentric, and isometric contractions in men with @DISEASE$ with and without diabetic @PHENOTYPICFEATURE$.	false
+92d4918d64fcb53525452bd45fac709684c4dcf0	The aim of this study is to underline the importance of drug and rehabilitative approach in the therapy of @PHENOTYPICFEATURE$, that frequently influences both diabetes mellitus type 1 and @DISEASE$.	false
+686bb3a9ff93be1da7e1085bed294b6322f62c6a	@PHENOTYPICFEATURE$ is known as one of most common complication in @DISEASE$ patient.	false
+2daf47e358b6e1944f8d998f142f7fdfc0703da5	To evaluate patients with @DISEASE$ and painful @PHENOTYPICFEATURE$ in order to investigate oral complaints and facial somatosensory findings.	false
+e2295de3393cdd345b68e0b9e55b4a691c5f7747	For people with @DISEASE$ who are also @PHENOTYPICFEATURE$, investigations of cognition and schizophrenia are infrequent.	false
+c0bde4d56e5380cf037404f92a43ffcff5cc5372	Social cognition as a mediator of cognition and outcome among @PHENOTYPICFEATURE$ and hearing people with @DISEASE$.	false
+d5ce857fdb28a42153a18bd02aaf85ec74dbf77b	@DISEASE$ and @PHENOTYPICFEATURE$: addressing obesogenic environments in mental health settings.	false
+a2dbb33655629e76cae395423c6eae863e669bc2	No differences were found on the control task between @PHENOTYPICFEATURE$ subjects with @DISEASE$ and hearing clinical or healthy controls.	false
+7c524bed3416a5d925af75c220acf5e765c09aeb	The vulnerability-stress model is a hypothesis for symptom development in @DISEASE$ patients who are generally characterized by cardiac @PHENOTYPICFEATURE$.	false
+c7a7a809909b9a0ac5787e006a50144ec943c687	@DISEASE$ itself is a contributor to an increased risk of cardiovascular mortality via cardiac @PHENOTYPICFEATURE$ and a higher prevalence of metabolic syndrome, both contributing to a reduced life expectancy.	false
+89d77974c970fbea42af2bc0e95173b4667c840a	@DISEASE$ and @PHENOTYPICFEATURE$: impact of antipsychotic medications.	false
+dd92ed02195d98911c70c5678a5207f48b8787b9	@DISEASE$ like syndrome following chronic @PHENOTYPICFEATURE$ in a teenager.	false
+96d929f6351ae8da4d767d7784236c444689d646	@DISEASE$ and gastric surgery for @PHENOTYPICFEATURE$.	false
+bc5169199754f24cbd20d297ed66c8b868cac772	A majority of these investigations supported the postulated association between @PHENOTYPICFEATURE$ and late-onset @DISEASE$ or paranoid disorder.	false
+2bd6246450c9848e248e34b3a0bc580ee9e12ed8	Complications (n = 12, 24%) due to @DISEASE$ were @PHENOTYPICFEATURE$ (n = 5), pleural effusion/empyema (n = 4), cerebral palsy (n = 2) and deafness (n = 1).	false
+e982d69086e977af6dda709c9eedb08f656c0a9f	For studies with and without individual participant data (@DISEASE$), the primary outcomes were the rate of "favorable response" (reduction in seizure frequency ?50%) and pooled event rate of mean reduction in @PHENOTYPICFEATURE$ frequency, respectively.	false
+8f9be5ec4b9e0aa528db52cc9bc9d4a079568225	For studies with and without individual participant data (@DISEASE$), the primary outcomes were the rate of "favorable response" (reduction in @PHENOTYPICFEATURE$ frequency ?50%) and pooled event rate of mean reduction in seizure frequency, respectively.	false
+551e22145a564afea19cc5f5a8cf82efa2204903	The Hamilton depression scale (HAM-D), brief psychiatric rating scale (BPRS), and Unified Parkinson's disease rating scale (UPDRS) were administered to clinically probable non-demented patients with SND-type MSA and patients with @DISEASE$ matched for age and motor @PHENOTYPICFEATURE$, at baseline and after receiving levodopa.	false
+b3b3b066917de6922b1d92a38c7f9d496a2bbfe8	In this review of aging, IPD, parkinsonian syndromes, tremor, Alzheimer's disease (AD), motor neuron disease (MND), Huntington's chorea (HC) and inherited @PHENOTYPICFEATURE$, the following observations are made: (1) olfactory senescence starts at about the age of 36 years in both sexes and accelerates with advancing years, involving pleasant odours preferentially; (2) olfactory dysfunction is near-universal, early and often severe in IPD and AD developing before any movement or cognitive disorder; (3) normal smell identification in @DISEASE$ is rare and should prompt review of diagnosis unless the patient is female with tremor-dominant disease; (4) anosmia in suspected progressive supranuclear palsy and corticobasal degeneration is atypical and should likewise provoke diagnostic review; (5) subjects with hyposmia and one ApoE4 allele have an approximate 5-fold increased risk of later AD; (6) impaired sense of smell may be seen in some patients at 50% risk of parkinsonism, and possibly in patients with unexplained hyposmia; (7) smell testing in HC and MND where abnormality may be found is not likely to be of clinical value, and (8) biopsy of olfactory nasal neurons reveals non-specific changes in IPD and AD and at present will not aid diagnosis.	false
+672f26f3cbb4128066e077f7a86f3c8da058a59f	In this review of aging, IPD, parkinsonian syndromes, tremor, Alzheimer's disease (AD), motor neuron disease (MND), Huntington's chorea (HC) and inherited @PHENOTYPICFEATURE$, the following observations are made: (1) olfactory senescence starts at about the age of 36 years in both sexes and accelerates with advancing years, involving pleasant odours preferentially; (2) olfactory dysfunction is near-universal, early and often severe in @DISEASE$ and AD developing before any movement or cognitive disorder; (3) normal smell identification in IPD is rare and should prompt review of diagnosis unless the patient is female with tremor-dominant disease; (4) anosmia in suspected progressive supranuclear palsy and corticobasal degeneration is atypical and should likewise provoke diagnostic review; (5) subjects with hyposmia and one ApoE4 allele have an approximate 5-fold increased risk of later AD; (6) impaired sense of smell may be seen in some patients at 50% risk of parkinsonism, and possibly in patients with unexplained hyposmia; (7) smell testing in HC and MND where abnormality may be found is not likely to be of clinical value, and (8) biopsy of olfactory nasal neurons reveals non-specific changes in IPD and AD and at present will not aid diagnosis.	false
+53019afa73e25f6d6007af476ed19d3276ebfa90	In this review of aging, IPD, parkinsonian syndromes, tremor, Alzheimer's disease (AD), motor neuron disease (MND), Huntington's chorea (HC) and inherited @PHENOTYPICFEATURE$, the following observations are made: (1) olfactory senescence starts at about the age of 36 years in both sexes and accelerates with advancing years, involving pleasant odours preferentially; (2) olfactory dysfunction is near-universal, early and often severe in IPD and AD developing before any movement or cognitive disorder; (3) normal smell identification in IPD is rare and should prompt review of diagnosis unless the patient is female with tremor-dominant disease; (4) anosmia in suspected progressive supranuclear palsy and corticobasal degeneration is atypical and should likewise provoke diagnostic review; (5) subjects with hyposmia and one ApoE4 allele have an approximate 5-fold increased risk of later AD; (6) impaired sense of smell may be seen in some patients at 50% risk of parkinsonism, and possibly in patients with unexplained hyposmia; (7) smell testing in HC and MND where abnormality may be found is not likely to be of clinical value, and (8) biopsy of olfactory nasal neurons reveals non-specific changes in @DISEASE$ and AD and at present will not aid diagnosis.	false
+2b9b035a90d9f854323bc166e4f46d346976620e	In addition the individual patient data (@DISEASE$) of 466 females with uncomplicated UTI of four prospective, single blind, randomized, clinical studies with similar protocols using nitroxoline (250 mg tid) versus cotrimoxazole (960 mg bid) or norfloxacin (400 mg bid) as controls for 5 days (@PHENOTYPICFEATURE$ UTI) or 10 days (recurrent UTI) were meta-analysed.	false
+db6e091071bfeb883eb2c820f219d43ec8bd4cec	This study included 659 patients of which 357 had parkinsonism (276 idiopathic Parkinson's disease (@DISEASE$) and 81 atypical parkinsonism (57 progressive supranuclear palsy; 11 multiple system atrophy 13 corticobasal degeneration)), 274 had ET, 22 had CD, and 6 had spinocerebellar @PHENOTYPICFEATURE$.	false
+18aa436686a530b5900d4bf5adc3833d62e50618	We assessed the preoperative, immediate (@DISEASE$), third hour (3h), six hour (6h) and first day (POD1) serum lactate as well as other factors such as sepsis, increased bleeding, low cardiac output syndrome, renal insufficiency, pulmonary hypertension, cardiac arrythmias, chylothorax, myocardial ischemia, @PHENOTYPICFEATURE$, presence of other complication, and also information about length of PICU stay and death.	false
+fefa06c8b61552db4c6aa066f455cbeb8380628d	The three @DISEASE$ patients with the highest cardiac tracer uptake had cardiomyopathy or @PHENOTYPICFEATURE$.	false
+9b443acf4b8e8b6ae8cbde7ab8cd5acdccb63780	Heart @PHENOTYPICFEATURE$ is common in Swedish patients with familial amyloidotic polyneuropathy (@DISEASE$), as well as cardiomyopathy.	false
+fc044dc43df9f5a72cd5d97c975825cff8ce002b	To clarify the cause of proximally dominant @PHENOTYPICFEATURE$ in patients with @DISEASE$ transthyretin Ser50Ile and Tyr114Cys, we investigated the distinctive features of muscle specimens of patients with FAP, 3 of who had Val30Met, 2 Ser50Ile, and 2 Tyr114Cys transthyretin.	false
+e74c14a462b63e26340b9957296c6e5614fa658f	To clarify the cause of proximally dominant @PHENOTYPICFEATURE$ in patients with FAP transthyretin Ser50Ile and Tyr114Cys, we investigated the distinctive features of muscle specimens of patients with @DISEASE$, 3 of who had Val30Met, 2 Ser50Ile, and 2 Tyr114Cys transthyretin.	false
+16c60b37bd2f5f8a23a67dc36efd9850e84b1343	Cardiac autonomic dysfunction is a common complication of familial amyloidotic polyneuropathy (@DISEASE$), but @PHENOTYPICFEATURE$ and conduction disturbances are also common.	false
+78bcb6dfad7df69582f247904438730d481cf973	Other genetic disorders not included in the genodermatosis group and reported in the present review are: acanthosis nigricans, angio-osteo-hypertrophic syndrome, encephalotrigeminal angiomatosis, @DISEASE$, focal dermal hypoplasia, focal palmoplantar and oral mucosa @PHENOTYPICFEATURE$ syndrome, gingival fibromatosis, Maffucci's syndrome, neurofibromatosis (type 1) and oro-facial-digital syndrome (type 1).	false
+36a747957f69c87ceb0f703d15cb731ea6f3d85e	BP overshoot may be a marker to assess the progression of cardiac autonomic dysfunction, especially as heart @PHENOTYPICFEATURE$ in many @DISEASE$ patients prevent HRV analysis.	false
+5d3c33ff0f42501f5d6b38bc9e5037c21ff02e0b	Because heart @PHENOTYPICFEATURE$ and conduction disturbances are well-known manifestations of @DISEASE$, the aim of this study was to investigate the occurrence and development of heart conduction and rhythm disturbances in Swedish FAP patients who underwent liver transplantation.	false
+fa6449da659edd47d8b3d5a21c29cbb4520c1775	Because heart @PHENOTYPICFEATURE$ and conduction disturbances are well-known manifestations of FAP, the aim of this study was to investigate the occurrence and development of heart conduction and rhythm disturbances in Swedish @DISEASE$ patients who underwent liver transplantation.	false
+66c4e6cd6cdc38f1d877a71061c4226b1b886294	Spinal cord stimulation (@DISEASE$) may reduce pain scores and improve function in patients with chronic visceral @PHENOTYPICFEATURE$.	false
+ada7453c71ede81ff7d031a551c23c7e16284c7a	In this clinical report, we describe uncommon and unexplained gastrointestinal (GI) side-effects of constipation, @PHENOTYPICFEATURE$, and distension during @DISEASE$ in a patient suffering for chronic neuropathic pain caused by failed back surgery syndrome.	false
+1a891733a259fa2d9bcca45144df386ee5381e80	In terms of long-term treatment effects, @PHENOTYPICFEATURE$ and @DISEASE$ (GVHD) are problems.	false
+e4183ce27580e8a943fc0e0b4aafc4edffc34665	@DISEASE$, locally advanced nasopharynx @PHENOTYPICFEATURE$, paediatric tumours.	false
+6313c81a11af4a20b9184bafc8fd8d731434082b	@DISEASE$, locally advanced nasopharynx tumours, paediatric @PHENOTYPICFEATURE$.	false
+9f3468863c076b3e9532d77ea30d7d6c128908fc	Extra-cranial @DISEASE$ or ectopic meningioma is a rare @PHENOTYPICFEATURE$.	false
+6e605d334ad3e59c8e3684a795f7b32303bbb01a	Extra-cranial meningioma or ectopic @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+1baf06dabd8636f6b752901fc9135b5a5900ebec	@DISEASE$ is a common benign intracranial @PHENOTYPICFEATURE$.	false
+47838bfbdeabb2ee57db0f0db60afc8c95d4e7df	The second most common @PHENOTYPICFEATURE$ is @DISEASE$.	false
+21306d43d70541863357abceced9786c049da9c4	Mount @DISEASE$ with @PHENOTYPICFEATURE$ cap.	false
+247665ecb7d15b4e4d36baeaf9dc3c3ee81a5632	Histologically, the @PHENOTYPICFEATURE$ was a @DISEASE$.	false
+ba5d44956b4f8e284688833dfe9bcc6e556bf5fc	Of the remaining two, one was a @PHENOTYPICFEATURE$ venous angioma, and the other, a probable tiny convexity @DISEASE$.	false
+fac21cbcf05a16a4a686ecf5538d45f7bd37edb3	[Torcular @DISEASE$; transtentorial @PHENOTYPICFEATURE$].	false
+25698a688431f89641332bca37e248d2900f5705	The @PHENOTYPICFEATURE$ was diagnosed @DISEASE$.	false
+a14dd0e4b095e31fb312eb8e7d8e6d9e4e461826	A case of @PHENOTYPICFEATURE$ cortical tremor after extirpation of a parietal @DISEASE$.	false
+5b387208d4d196849cf784262a18b09ab364f8d0	Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving @DISEASE$/@PHENOTYPICFEATURE$ and cleft lip/palate are discussed.	false
+1ffbc1fb939c1c63658a14db76efc2550838b709	@PHENOTYPICFEATURE$ and T-cell deficiency in @DISEASE$: case report and review of the literature.	false
+915d1486c761612c69bd5ee51c42a6d1fa7efc88	In that respect, this human model of @DISEASE$ and @PHENOTYPICFEATURE$ resembled the ectodermal/thymic defects found in the nude mouse.	false
+3a0c15e76c9c08250707aed9f34ec5f43de53eef	The EEC syndrome (ectrodactyly-ectodermal dysplasia -clefting) is defined as a multiple congenital anomaly syndrome characterized by @DISEASE$, distal @PHENOTYPICFEATURE$, cleft lip/palate, and lacrimal duct anomalies.	false
+acf62b0c8a44b3b9d81ff61cc56eacff4f562f8b	The EEC syndrome (ectrodactyly-@DISEASE$ -clefting) is defined as a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal @PHENOTYPICFEATURE$, cleft lip/palate, and lacrimal duct anomalies.	false
+6fcf6b7c864cd117a1261b8f040c7f232a7160c7	In this report, we describe a female infant with @DISEASE$ who was found to have @PHENOTYPICFEATURE$ but no other phenotypic features of the DiGeorge anomalad.	false
+2f9378936ae87b11eb759fd9840cbf4ae484c1e0	Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a1713f5209e368854bf332e6e896c6d36351026d	Common features of autoimmune polyendocrinopathy-candidiasis-@DISEASE$ include candidiasis, @PHENOTYPICFEATURE$ and hypoadrenalism.	false
+050b8b3fef775fc584e4c0b4ee5d36061d816134	Common features of autoimmune polyendocrinopathy-candidiasis-@DISEASE$ include candidiasis, hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+4fb0945696d1fdb1ed64f1606f57ff0d246781e9	Mesomelic dwarfism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+a9aa718e87c89b3d738b316b95258b23741e8402	The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are @DISEASE$ (ED), orofacial clefting, and @PHENOTYPICFEATURE$.	false
+4b54edf70daca9d99c54abcb4744ce3bf1370116	The cardinal features of Ectrodactyly, @DISEASE$, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and @PHENOTYPICFEATURE$.	false
+e6a4b12b8dcd64baf6efb53a4754e3c456b96088	Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is an autosomal dominant form of @DISEASE$ associated with @PHENOTYPICFEATURE$ and orofacial clefting.	false
+7bec4be8a3078da558919c2d23a5e3f3b295a5ef	Ectrodactyly-@DISEASE$-cleft lip/palate (EEC) syndrome is an autosomal dominant form of ectodermal dysplasia associated with @PHENOTYPICFEATURE$ and orofacial clefting.	false
+f5b78c43da5d3a38396f0a01129e36d1a062413f	The distinctive clinical phenotype, for which we propose the eponym @DISEASE$, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, @PHENOTYPICFEATURE$, mammary gland hypoplasia, and reduced growth.	false
+5f6d81c742499453d6a41183a1ec4c7f35eeecc4	Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, @DISEASE$, hypertelorism, posteriorly rotated and abnormal ears, and @PHENOTYPICFEATURE$.	false
+8e85b6b2f132c4183d9bcc8024807a215a6b5bdc	Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, @DISEASE$, @PHENOTYPICFEATURE$, posteriorly rotated and abnormal ears, and micrognathia.	false
+e6f50ebeab31e2a531c61d85724ea9b77a04fe88	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital @PHENOTYPICFEATURE$ or @DISEASE$, micrognathia, hypoplastic mandible, and low-set ears.	false
+0d04c31c666596f693827d0f80affbf1fc8e21de	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or @DISEASE$, micrognathia, @PHENOTYPICFEATURE$, and low-set ears.	false
+a0f2f437c9b71e215c5f9b87326fca0e69dcdb9b	OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or @DISEASE$, @PHENOTYPICFEATURE$, hypoplastic mandible, and low-set ears.	false
+4e04812a0bc775e2cdba6421e5e4e821152df1a0	He had multiple dysmorphic features including @DISEASE$, blepharophimosis, high broad nasal bridge with a square-shaped nose, flat philtrum, @PHENOTYPICFEATURE$, down-turned corners of the mouth, high-arched palate, micrognathia, asymmetric ears, and long, thin fingers and toes.	false
+bfdb86c10939abd403883d71e0833c3c27224601	He had multiple dysmorphic features including @DISEASE$, blepharophimosis, high broad nasal bridge with a square-shaped nose, flat philtrum, thin upper lip, down-turned corners of the mouth, high-arched palate, @PHENOTYPICFEATURE$, asymmetric ears, and long, thin fingers and toes.	false
+4226b98e46aed179fec3c87133a2e21331a8aa87	Salient features of 11q- syndrome are psychomotor retardation, trigonocephaly, @DISEASE$/hypertelorism, broad depressed nasal bridge, @PHENOTYPICFEATURE$, low set abnormal ears, cardiac anomalies and hand/foot anomalies.	false
+9c581fe6188f74a8289f1ffb010ae9993dc0fcad	Salient features of 11q- syndrome are psychomotor retardation, trigonocephaly, @DISEASE$/@PHENOTYPICFEATURE$, broad depressed nasal bridge, micrognathia, low set abnormal ears, cardiac anomalies and hand/foot anomalies.	false
+c930af8bb75b7a677ddd31b2adc786f7d0bfddb1	Salient features of 11q- syndrome are psychomotor retardation, trigonocephaly, @DISEASE$/hypertelorism, broad depressed nasal bridge, micrognathia, low set abnormal ears, @PHENOTYPICFEATURE$ and hand/foot anomalies.	false
+3f63b7b2f2c5ecc2f4ef66c84b3b97710af77df2	The problem of @PHENOTYPICFEATURE$ is simply replaced by the problem of @DISEASE$.	false
+f6caa4ee895417fc1cc4b9b87b987a636a2c9b71	We report on a patient with primordial @PHENOTYPICFEATURE$, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, @DISEASE$, upturned nose, micrognathia, and small mouth with downturned corners).	false
+9aa02b53045c936013c98dfbcda60299176b9b1a	We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, @DISEASE$, upturned nose, @PHENOTYPICFEATURE$, and small mouth with downturned corners).	false
+b5ee8e4975aa6bf30e4f29c7c60227ebb3992d44	Facial features of LMS include @PHENOTYPICFEATURE$ and @DISEASE$, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance.	false
+13262cac0a95ad00639b539e36a2021be7b3fd3f	Facial features of LMS include hypertelorism and @DISEASE$, high arched eyebrows, ptosis, midfacial hypoplasia, @PHENOTYPICFEATURE$, high and narrow palate, low-set ears and a hypotonic appearance.	false
+20eef7932b6edce099d09b01c11cb47dcbbb5cfc	Physical findings included a round face, @DISEASE$, @PHENOTYPICFEATURE$, a short upturned nose with anteverted nares, small ears, micrognathia, short toes, and congenital heart disease.	false
+92b5d9509fccdc33ad6779547069f8eca25febf7	Physical findings included a round face, @DISEASE$, hypertelorism, a short upturned nose with anteverted nares, small ears, @PHENOTYPICFEATURE$, short toes, and congenital heart disease.	false
+d169fc5ce3d898a25112baf0ab8dfdbf1d4d268f	The mothers in all six families had @PHENOTYPICFEATURE$ and/or @DISEASE$.	false
+c87f8de08232382beea77bec278259cdd446bdb4	We report on a mother and son with a similar syndrome of @PHENOTYPICFEATURE$ and @DISEASE$, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears.	false
+c74e2a9ded77590a0968ea5d9ac83a928bc8f384	We report on a mother and son with a similar syndrome of hypertelorism and @DISEASE$, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, @PHENOTYPICFEATURE$, smooth philtrum, and apparently low-set prominent ears.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+eee0919dbc2ccea09c4ac1f66da0df31363915de	Further research programmes are needed to improve the diagnosis and the treatment of @DISEASE$ @PHENOTYPICFEATURE$.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+e0c20e569e04c96dab27604d3af13b5c3ffb2d1e	Primary @DISEASE$ is an extremely rare and highly aggressive @PHENOTYPICFEATURE$.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+47a8ca90e64e4068d5dad77b792616127d09b0e1	@DISEASE$:  a rare @PHENOTYPICFEATURE$ with propensity for hepatic involvement.	false
+f6f1d5a301855d4726afab96fcfa6c36e224a36d	@DISEASE$ is a rare entity known as an aggressive @PHENOTYPICFEATURE$.	false
+3968e06aaa714922295b8cda1711a015be4d4ae8	@DISEASE$ is an extremely aggressive and rare @PHENOTYPICFEATURE$.	false
+3151a0f35c4a82982b4b7b9a781cb8a9f905f320	@DISEASE$ is a rare and highly aggressive @PHENOTYPICFEATURE$.	false
+22b74d61e7bb4f673010b5ec8b552ce95edd2fb4	@DISEASE$: case report of a rare primary @PHENOTYPICFEATURE$.	false
+4a184d553fa8be2c460919ffe64958bc10ff47e3	The fact that in a significant number of @PHENOTYPICFEATURE$ patients epithelial GR was not active, and the observation that activity could be restored by adding in vitro @DISEASE$, demands that more attention should be given to riboflavin nutritional status and FAD synthesis in the eye.	false
+5163b4ae04cce0349dff6dd2ba662dcee6d6bd1c	The fact that in a significant number of @PHENOTYPICFEATURE$ patients epithelial GR was not active, and the observation that activity could be restored by adding in vitro FAD, demands that more attention should be given to riboflavin nutritional status and @DISEASE$ synthesis in the eye.	false
+1ef399864711390d85d192085b4427cfcae720ac	The aim of the present study is to compare @PHENOTYPICFEATURE$ with hypometabolism as preclinical markers of Alzheimer's disease (AD) by studying presymptomatic individuals from families with known early-onset autosomal dominant AD (@DISEASE$) carrying mutations in the Presenilin 1 gene.	false
+f872fe08e5da187f4dec5d346d5ceb691b508a43	Glutathione reductase (GR) activity was measured with and without the addition of flavin adenine dinucleotide (@DISEASE$) in freshly excised human lens epithelium following @PHENOTYPICFEATURE$ surgery, and in control eye bank lens epithelium.	false
+214727a4c07107298257ba1476d1774e1f3cbd58	Presymptomatic @DISEASE$ individuals show widespread MRglc reductions consistent with the typical AD PET pattern in the relative absence of structural @PHENOTYPICFEATURE$.	false
+be31d6a97d134bad242282b9352b234212a5b10f	This feature is illustrated by the manifestations of compression myelopathy, hydrocephalus with dementia, hydrocephalus with seizures and @PHENOTYPICFEATURE$, and @DISEASE$, blindness, seizures, and diabetes insipidus.	false
+7b2c8d8ee785fc2b355d77ac9d7a81c7f27a6f4f	This feature is illustrated by the manifestations of compression myelopathy, hydrocephalus with dementia, hydrocephalus with @PHENOTYPICFEATURE$ and ataxia, and @DISEASE$, blindness, seizures, and diabetes insipidus.	false
+bb25870baa59d2606b8e44d4284b74afaf0e512e	This feature is illustrated by the manifestations of compression myelopathy, hydrocephalus with dementia, hydrocephalus with seizures and ataxia, and @DISEASE$, blindness, @PHENOTYPICFEATURE$, and diabetes insipidus.	false
+45e7828305379e1504568558511ba88884312ce6	Borderline @PHENOTYPICFEATURE$ and @DISEASE$ were found in one patient.	false
+c18ec3a3ad65308c5b6408f381d390da4103a8be	Neurological abnormalities were found in four patients including dysarthria, seizures, @DISEASE$, nystagmus, @PHENOTYPICFEATURE$ and changes in the electroencephalograms, electroretinograms and evoked potentials.	false
+44a4d0461f4545656e88516ae925e9d9166c4eac	Neurological abnormalities were found in four patients including dysarthria, @PHENOTYPICFEATURE$, @DISEASE$, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials.	false
+8ce3a4e5cfcf031ad91eb77de0bb97f8e86432c1	Main neurological symptoms were @DISEASE$, sensorineural deafness, dysarthria, @PHENOTYPICFEATURE$, and pyramidal tract signs.	false
+3b74806f32c9075be36b967df912f4fe1843de66	X-linked syndrome of congenital ichthyosis, hypogonadism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+6f5d45d0efd5312ca831970bf201e1ecf6a9fe31	The patient suffered from progressive cerebellar ataxia, hearing loss, @DISEASE$, spastic paraparesis, but no @PHENOTYPICFEATURE$.	false
+ec725d59177a0b804b3f743f914991ff505eee7c	The clinical signs included @PHENOTYPICFEATURE$, indications of @DISEASE$, blindness, and abnormal behavior.	false
+d7181456349c5fe3b997a7166d7dc8a50b782c8d	We describe a familial disorder consisting of sleep apnea, @DISEASE$, colorblindness, partial complex @PHENOTYPICFEATURE$, and cognitive dysfunction.	false
+d5b03d5df4a93a07e4690ccd379ad59fa77867eb	About ten years ago he became blind and recently developed right @DISEASE$ and diencephalic @PHENOTYPICFEATURE$.	false
+2a52fcbe2ca2285be63ff96f60c7462ab7e1e485	A brother and sister with congenital @PHENOTYPICFEATURE$, @DISEASE$, oligophrenia, hypogonadism and anomalies of amino acid distribution are reported.	false
+e494f3e25dfa61fbdfb7ac8c0d896a45513b6938	A child with phenotypic features of the @DISEASE$, including metopic craniosynostosis, small ears, abdominal wall defect, and mental retardation, as well as @PHENOTYPICFEATURE$, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father.	false
+caa5d241e22b38d55e94da766c070f41a455e46b	At birth, MICRO syndrome resembles Cerebro-Oculo-Facio-Skeletal (@DISEASE$) syndrome, but it differs in the lack of the rapidly progressive neurologic features leading to severe @PHENOTYPICFEATURE$ with calcifications.	false
+77e224a7ac4ee4e3c4f63fecf92bc8991974dea9	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to @PHENOTYPICFEATURE$ with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+68911ace5b983d03abef98e72d000205dbe83452	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to @PHENOTYPICFEATURE$, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.	false
+cedfcc2fe2f15327f5b44eb3b669efebabcbef2c	The authors report two patients with hypertrichosis and @PHENOTYPICFEATURE$ overlying a periorbital @DISEASE$.	false
+1ae7d7f67b95b55cc4ec72b9b302230f8915b912	The patient presented with increasing @PHENOTYPICFEATURE$ and accelerated growth of the mass; he underwent percutaneous embolization of lesion vessels that induced necrosis of the @DISEASE$.	false
+683e850f6640ac55c9f6dae34e7f8af84f6d8ebf	The second one is formed by irregularly arranged masses of elongated cells and fibers similar in appearance to @DISEASE$, with areas of cystic degeneration and @PHENOTYPICFEATURE$.(ABSTRACT	false
+f661fa2718a4f3bf09d93815310fa211d194930f	Two patients had @PHENOTYPICFEATURE$ and cutaneous hyperpigmentation resembling a hairy nevus, and one had a caf? au lait spot directly overlying a pigmented @DISEASE$.	false
+68e9ce813a7d1f786aedbb5fa2373b922259c5d3	Two patients had hypertrichosis and @PHENOTYPICFEATURE$ resembling a hairy nevus, and one had a caf? au lait spot directly overlying a pigmented @DISEASE$.	false
+507976db3f57acb6c95c4f9198a1e9e6d3be2b0d	Localized @PHENOTYPICFEATURE$ overlying @DISEASE$.	false
+5dc02aa3281cae94cf152a0e9eb3b917be687b2c	Other motives included: first-degree relative with NF1, cutaneous @DISEASE$, plexiform neurofibroma, tibia's pseudarthrosis, headaches, seizures, @PHENOTYPICFEATURE$ and learning disabilities.	false
+9216671b0454c0a161b92ae5b4fa6535eb429a0d	Weakness, seizures, @PHENOTYPICFEATURE$, speech, or walking difficulties are more frequent in arterial ischaemic stroke (@DISEASE$).	false
+ae28299204b843bb96e629da03cd563f13c34764	Weakness, @PHENOTYPICFEATURE$, ataxia, speech, or walking difficulties are more frequent in arterial ischaemic stroke (@DISEASE$).	false
+94df9d7d2fc3b661be486fe56e9468b7b674aa15	Aicardi syndrome (@DISEASE$) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for @PHENOTYPICFEATURE$.	false
+e188361bb352c9d03243029cb096018d005fba92	Aicardi syndrome (@DISEASE$) is a rare genetic disorder characterized by chorioretinal lacunae, @PHENOTYPICFEATURE$ and infantile spasms responsible for mental retardation.	false
+044aec2f524ad42bc4a5e2769c3915f9fe7cf788	Cerebral @PHENOTYPICFEATURE$, especially arterial ischemic stroke (@DISEASE$) is very rare and unusual in KD.	false
+52da22b61beb992967342099f35a93ab51ba01bc	@DISEASE$ patients demonstrated @PHENOTYPICFEATURE$ patterns in the axial plane compared to normal controls.	false
+0e3f991159116ced06a8256c1bb3bd37c85280db	GIBO is a rare but burdensome complication of @DISEASE$, associated with complications, @PHENOTYPICFEATURE$, and mortality.	false
+99cc93f2944370fa4cf4fae2b0213fc1a512ac82	Moreover, in children after @DISEASE$ @PHENOTYPICFEATURE$ and epilepsy are also quite common.	false
+02f12545ba296926748ddc4e1e320ed8b1cd05b9	? Advanced CT could improve rapid adequate treatment for @DISEASE$ and @PHENOTYPICFEATURE$ events.	false
+e8664a1c7236d8298cdc334ee8f385175caaecc0	Twenty-two percent of children with acute @DISEASE$ present with @PHENOTYPICFEATURE$.	false
+8c2a913a9295715ac58643e22fc589c6479df0eb	Most common modes of presentation were hemiparesis, @PHENOTYPICFEATURE$ and speech disturbances in @DISEASE$, and headache, seizures and lethargy in CSVT.	false
+dddc7024725501a828018c108c91303bd4d6e9a2	Most common modes of presentation were hemiparesis, seizures and speech disturbances in @DISEASE$, and headache, @PHENOTYPICFEATURE$ and lethargy in CSVT.	false
+6a52a96efe246933fe767ee9290ef463602c9e64	Injury severity scores, Glasgow @PHENOTYPICFEATURE$ scale scores, abdominal abbreviated injury scale score (@DISEASE$), and age were similar for both populations.	false
+b251e0f554131eb8aff02f311f2d55dc178ee0c2	Because @PHENOTYPICFEATURE$ is associated with lower circulating concentrations of testosterone, our results suggest the hypothesis that androgens may play a more direct role for early-onset or @DISEASE$ than for sporadic prostate cancers.	false
+2f214a8a81d11047da5bfe75e5848e8e43de576b	We present middle and @PHENOTYPICFEATURE$ in three additional individuals with mutation-proven @DISEASE$ syndrome.	false
+2b99068be5516acb31ea5ea9707c612924b76eba	Paraneoplastic @PHENOTYPICFEATURE$ in @DISEASE$ of unknown primary.	false
+0a9750339c0571959f8df065f7b565fb5c70916a	@DISEASE$ (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various @PHENOTYPICFEATURE$.	false
+baf5dfb7680192ae57a425a72f4e4cc218ada4c8	@DISEASE$ (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various @PHENOTYPICFEATURE$.	false
+156564bdcc270364002db83b972e714d44ae66cf	Heterozygous females have @DISEASE$ (CFND) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show cleft lip or palate.	false
+1ddeab78f05bf93fe2ab6c200fa138ae4189c71f	Heterozygous females have craniofrontonasal dysplasia (@DISEASE$) and occasionally extracranial manifestations including midline defects and @PHENOTYPICFEATURE$, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show cleft lip or palate.	false
+a6d1f25437304903865788b497e8c0edd53821ae	@DISEASE$ (CFNS) is characterized by body asymmetry, midline defects, @PHENOTYPICFEATURE$, and dermatological abnormalities.	false
+7d0da2549df44273580d4f51b4d7ead40d6052a7	The importance of correct diagnosis mainly concerns counselling regarding the future risk of recurrence--the probability of familial recurrence of @DISEASE$ is very low, whereas the risk of recurrence of a familial @PHENOTYPICFEATURE$ is about 5%.	false
+1541c4439d2d2a3629675997333884265502c950	The objectives are to analyze the outcomes of fetal interventions for fetal @PHENOTYPICFEATURE$ associated with amniotic band syndrome (@DISEASE$), to compare the outcome with the known natural history, and to establish selection criteria for fetal intervention.	false
+5e74a6843a67d191e85d8055b757ceba7a6e2f89	The notable radiological features are thalamic lesions in ANE, diffuse cerebral cortical cytotoxic @PHENOTYPICFEATURE$ in HSES, reversible cerebral swelling in @DISEASE$ which sometimes reaches lethal brain herniation, and in FCSE type, dendritic high signal in subcortical white matter by DWI ("bright tree appearance") appears simultaneously with the later onset of repetitive focal seizure.	false
+5aea59514bc0ce01f22e7cedefc7d4d04b76cf87	We sought to determine the frequency and outcomes with symptomatic @PHENOTYPICFEATURE$ in patients with apical ballooning syndrome (@DISEASE$).	false
+0bde95313e2afef3df4f6af1dae0af75510f03f0	To assess the effectiveness of procysteine (PRO) supplementation provided during a period of abstinence (@DISEASE$) on alcohol-induced @PHENOTYPICFEATURE$ and oxidant stress.	false
+47078a43ec87ffb4168ca564fa16e58cef752005	The notable radiological features are thalamic lesions in ANE, diffuse cerebral cortical cytotoxic edema in HSES, reversible cerebral swelling in @DISEASE$ which sometimes reaches lethal brain herniation, and localised cerebral edema which is called as "lobar @PHENOTYPICFEATURE$" because its extent seems to be equivalent to cerebral lobes.	false
+30699c1319553790328aca2190502acb25035ff6	The notable radiological features are thalamic lesions in ANE, diffuse cerebral cortical cytotoxic @PHENOTYPICFEATURE$ in HSES, reversible cerebral swelling in @DISEASE$ which sometimes reaches lethal brain herniation, and localised cerebral edema which is called as "lobar edema" because its extent seems to be equivalent to cerebral lobes.	false
+ec73eba2d727d9c1e56f94278993d1f87f4de687	), skin perfusion pressure (SPP), ankle brachial index (@DISEASE$), lower extremities @PHENOTYPICFEATURE$ (circumferences in the calf and ankle), and motor performance (postural sway with eyes open and closed conditions, and gait performance during normal, dual-task and fast walking).	false
+0b7cbac96f31ff688f7f544c7f6652c77a10f9d6	Apart from the craniosynostosis and elbow ankylosis, our patient also presented with severe @PHENOTYPICFEATURE$, the first report of such a finding in association with @DISEASE$.	false
+2ce17feb79b7b67b1eacdbfff07818dce2ff8479	Intravesical administration of @DISEASE$ is at least as efficacious as EPN in terms of congestion, @PHENOTYPICFEATURE$, necrosis, and ulceration.	false
+361ad98047387884d25cf83d1549a6c37ebd3171	@PHENOTYPICFEATURE$ and/or @DISEASE$ (HSCR).	false
+fca1f7abcdfdcb6372446f11b2c214a487fb68a0	Novel association of severe neonatal @PHENOTYPICFEATURE$ and @DISEASE$ in a male with a duplication at the Xq28 region.	false
+2ef54bfec1b1c3f31a30c052744036d3ee5e3808	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+f151321825f92c7651f00912fb90e087c066d49b	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including @PHENOTYPICFEATURE$, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+940aad1bbdbd1f75934e2f5d15db8c415008b3ec	Twenty-nine patients had @PHENOTYPICFEATURE$, nine had imperforate anus, three had cloacal anomalies, and one had @DISEASE$.	false
+716a9f55f04c6441e99941bc0599d3d48b68117a	Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with @PHENOTYPICFEATURE$, specific facial dysmorphism, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+949a4370f9d499d2ef490259879e1fd21e6db1ef	Mowat-Wilson syndrome (MWS) is characterized by @PHENOTYPICFEATURE$ with seizures, specific facial dysmorphism, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+c22d389871251eb1e262fff6e887e23fb217723f	Children with @DISEASE$ may have persistent obstructive symptoms due to internal anal sphincter @PHENOTYPICFEATURE$, even after definitive surgery.	false
+2ef54bfec1b1c3f31a30c052744036d3ee5e3808	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, @PHENOTYPICFEATURE$, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+f151321825f92c7651f00912fb90e087c066d49b	It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including @PHENOTYPICFEATURE$, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and @DISEASE$.	false
+06ce0d05289c794d81b58e66b988e4274f5122c0	Patients with imperforate anus/cloacal abnormalities, @DISEASE$, @PHENOTYPICFEATURE$, or prior pull-through were excluded.	false
+74e5ee63469e1f5999f8dc63b2e608ef77eb28ee	The syndrome is characterized by typical facial features, moderate-to-@PHENOTYPICFEATURE$, epilepsy and variable congenital malformations, including @DISEASE$, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects.	false
+2793dc87ee2392f89c261578097c3221831500f8	The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including @DISEASE$, genital anomalies, congenital heart disease, @PHENOTYPICFEATURE$, and eye defects.	false
+c3d7819ee286b801d17a37cc65bbec37d2ef8e7c	Symptoms of obstruction after surgery for @DISEASE$ may result from residual @PHENOTYPICFEATURE$ of the internal anal sphincter.	false
+62ac594336cfcdedded20223c13c2fd86c7d3e7b	Thirty-nine cases were diagnosed as bronchiolitis obliterans (BO); 39 as idiopathic pulmonary hemosiderosis (IPH); 7 as idiopathic interstitial pneumonia (IIP) of unknown causes, of whom 4 cases had non specific interstitial @PHENOTYPICFEATURE$, 1 case as acute interstitial pneumonia and 1 case as @DISEASE$, 1 case as idiopathic pulmonary fibrosis; 2 cases as secondary interstitial lung disease, one was secondary to SLE, one to human immunodeficiency virus (HIV) infection; 2 cases had hypersensitive pneumonitis; 2 cases had pulmonary alveolar proteinosis; 1 case had bronchiolitis obliterans organizing pneumonia; 1 case had lipoid pneumonia;1 case of diffuse panbronchiolitis; 1 case of microlithiasis alveolaris pulmonum.	false
+544f58653f56dbb74446422acec8a0048a5230ac	Thus, the BALF BOOP-pattern, is associated with BOOP, with cellular interstitial @PHENOTYPICFEATURE$, with @DISEASE$, and with UIP.	false
+8e916f57a90004d15efc3cda060c028376b151cd	Patients with different neurological disorders were examined: Parkinson disease, progressive supranuclear palsy, multiple system atrophy-@PHENOTYPICFEATURE$ variant, multiple system atrophy cerebellar variant, stroke, multiple sclerosis and @DISEASE$.	false
+5d276002bbc0c12b255f87ea30bd772e006558c6	@DISEASE$ (AT) is a multiform genetic disease characterized by immunodeficiency, @PHENOTYPICFEATURE$, and cancer predisposition.	false
+ecffe73617f8386e13e672dc41606ed47e7f9f7d	@DISEASE$ in horses is often associated with @PHENOTYPICFEATURE$; 79.7% of affected horses had ionized hypocalcemia.	false
+df66b5fb8f848b7c72e72f8d709469a9802d4837	Furthermore, this system recapitulates the intestinal epithelium-mesenteric fat signals that potentially trigger or worsen inflammatory disorders such as Crohn's disease and @PHENOTYPICFEATURE$-related @DISEASE$.	false
+4c45148368fbe0f9e20891329ffbec4187ad2328	The authors examine literature data on the most relevant MD emergencies, including those related to Parkinson's disease, acute drug reactions (acute dystonia, neuroleptic malignant syndrome, serotonergic syndrome and @PHENOTYPICFEATURE$), acute exacerbation of chronic MD (status dystonicus), hemiballism and @DISEASE$, highlighting clinical presentation, demographics, diagnosis and management.	false
+d2cdce0b13d9d27e9cb1b803d24ca7f9be4876cf	@DISEASE$ (SPS) is a rare chronic neurological disease characterized by progressing muscle rigidity and painful @PHENOTYPICFEATURE$.	false
+c3e194203313999e7bbc54c3560e8862f97331ef	We report five of 38 patients with @DISEASE$ (SPS), who also had cerebellar disease, @PHENOTYPICFEATURE$, dysarthria, and oculomotor dysfunction (SPS-Cer).	false
+d11b634640ca648230227117e88ded4a4a29fea3	GPi DBS should be considered in dystonic @DISEASE$ patients provided fixed @PHENOTYPICFEATURE$ and/or pyramidal symptoms are not present.	false
+5ada218ac61ade4d227d80329e1636ecaa9c5fe1	Six of 23 biochemically and morphologically re-examined children got a new and definite diagnosis: 1 @PHENOTYPICFEATURE$ encephalopathy with ragged red fibres, 2 carbohydrate-deficient glycoprotein syndrome, 1 neuroborreliosis, 1 @DISEASE$ and 1 leucodystrophy.	false
+9a455ff575eb606155541ff3b460a81a116f1a9b	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and @PHENOTYPICFEATURE$, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+817a85dea5c50b52f00acbf0d86831398d049660	Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with @PHENOTYPICFEATURE$ (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to @DISEASE$.	false
+4f8a433edbc04c8502353ddbe1aa6eda3be559fa	Classic frontal-subcortical dementias include Huntington chorea, Parkinson disease dementia, progressive supranuclear palsy, thalamic degeneration, subcortical vascular dementia, multiple sclerosis, the acquired immunodeficiency syndrome dementia complex, depressive pseudodementia, and some other rare dementias like @PHENOTYPICFEATURE$ syndromes, @DISEASE$, choreoacanthocytosis, idiopathic basal ganglia calcification, Guamanian parkinsonism-dementia complex, corticobasal degeneration multiple system atrophy, Wilson disease, metachromatic leukodystrophy, adrenoleukodystrophy, hypoparathyroidism, sarcoidosis, and other CNS inflammatory disorders.	false
+031ac873cfb6e92774ef52006fbd58bd98492756	Taken together, when the prognostic impact of @PHENOTYPICFEATURE$-infiltrating CD8+ cells in ovarian cancer is investigated with TMA technique, a moderate correlation with @DISEASE$ results has to be considered.	false
+ab5ce8b49ab13cd0132bd546caa061acfce730ff	Another @PHENOTYPICFEATURE$ line (@DISEASE$) that is poorly recognized by NK cells was less effective in blocking the inhibitory effect of NK cells on CFU-S.	false
+28cdab26c9ebdcd2660c3824360e14afe9c559f4	@DISEASE$ was performed on @PHENOTYPICFEATURE$ RNA from 8 patients with CCSK.	false
+12494fe8b4fe16b9f0d1385fc35a1c4de1b8e026	A correlation (r = 0.516, p less than 0.01) was observed for @PHENOTYPICFEATURE$ volume and @DISEASE$.	false
+494392277a96e5e8b1116c2c50f16f277e748ac4	For comparison with non-neoplastic tissue, 10 @DISEASE$ containing @PHENOTYPICFEATURE$ with associated non-neoplastic tissue were also studied.	false
+97f90d96dd3c359f52e3c93169b256572180b786	Two readers independently measured the parameters using three slice protocols including single slice, three slices and whole-@PHENOTYPICFEATURE$ slice (@DISEASE$), combined with one of two ROIs, including outline and round ROI.	false
+4dd13091f909522b7be100f464d9d76f730f2ea1	Whole-transcriptome sequencing (@DISEASE$) of xenografts was performed to explore the molecular aspects of @PHENOTYPICFEATURE$ response to this novel combination and to potentially identify additional therapeutic targets in GIST.	false
+1e8110d2e83899d8e7120f75528700813005f53e	A large series (n?=?707) of primary invasive breast @PHENOTYPICFEATURE$ were immunostained for Ki67 using both TMA and @DISEASE$ and assessed as percentage staining and correlated with each other, clinicopathological parameters and patient outcome.	false
+fe75e773732652708fe2a9b826190f1a7f199991	The aim of this study was to assess and compare the density of @PHENOTYPICFEATURE$-infiltrating CD8+ cells in ovarian cancer using TMA and @DISEASE$.	false
+74bd3c5635905bbc673d34594cfeaed601e4a0de	Ki67 in @DISEASE$ correlated significantly with the Laur?n phenotype and @PHENOTYPICFEATURE$ grade, but not with patient survival.	false
+b36c8f842a8464a20ea4d76ccfdbff8e4789308e	Key Words: Analgesia (epidural), Autonomic nerve block, @DISEASE$, Postoperative @PHENOTYPICFEATURE$.	false
+64fd02c6e24ea2649c8e1c5d9f1ca652715540d2	@DISEASE$ neurolysis in S3-S5 localized cancer @PHENOTYPICFEATURE$.	false
+6d6a7016666396e36253a34aedd62280302ad4e0	Patient diagnoses were: back pain (31), neuropathy (20), joint pain (13), visceral @PHENOTYPICFEATURE$ (7), @DISEASE$ (7), headache (5), fibromyalgia (3).	false
+38d0ca057d0d19fce41d18bf730112f063235994	@DISEASE$ of the face is an infrequently reported cause of chronic facial @PHENOTYPICFEATURE$.	false
+5339c18ef16b5a619e6fedbe81470e5105234ea9	The features and clinical implications of neurologic conditions, such as atypical facial @PHENOTYPICFEATURE$, trigeminal and glossopharyngeal neuralgia, @DISEASE$, and neurogenic inflammation, are also described.	false
+e0ef5d58f63aa68e48fed922b0dc9ba631141bbc	No rerupture, deep venous @PHENOTYPICFEATURE$, or @DISEASE$ occurred during follow-up.	false
+5d7a5fc8c954e0bff30a0c7b1662a1e05a96f890	Pain was not explained by other diseases causing foot pain, like @DISEASE$, polyneuropathy, Morton's neuralgia, gout, osteoporosis, avascular necrosis, intermittent claudication, orthopaedic @PHENOTYPICFEATURE$, stress fractures, and hyperparathyroidism.	false
+c5247381dbf9b1d19730f25d7d71b84cf7265a47	In differentiating between sympathetic pain and somatic @PHENOTYPICFEATURE$, the use of the @DISEASE$ (RSD) score can be helpful (Table 4).	false
+aa0f04876dc69373ba184b6f7b44895a5025d1b9	@PHENOTYPICFEATURE$ neurogenic syndromes commonly diagnosed as @DISEASE$ (RSD) may not be the consequence of sympathetic dysfunction.	false
+156dc57fb222617bd4bf55458e378dafee2f676e	@DISEASE$, a painful disorder of the sympathetic nervous system, can be treated by blocking the sympathetic nerves located in the stellate ganglion, resulting in vasodilation, @PHENOTYPICFEATURE$, miosis, and anhydrosis.	false
+12ffdaa1bbfcb9a613eadef665a3bfb967115dd6	It has also been described associated to @DISEASE$, sarcoidosis, systemic @PHENOTYPICFEATURE$, inflammatory bowel disease, and lymphoproliferative disorders, and also drugs have been implicated.	false
+051e9c9b2b1bba5d052c63333010f5b33989c6a5	Extensive @PHENOTYPICFEATURE$ calcinosis in a patient with @DISEASE$.	false
+38544e2e2e622c629b1773abb1b21146297a6f99	@DISEASE$ or scleroderma is associated with distal @PHENOTYPICFEATURE$, Raynaud's phenomenon, and inflammation of internal organs and the skin.	false
+a584a7569717beda0507b14afd92ab669273abc9	Ectopic @PHENOTYPICFEATURE$ calcinosis in @DISEASE$.	false
+a0627cfe74164b91ea35cdcd2691206033e1d3bf	Clinical images: Voluminous ectopic @PHENOTYPICFEATURE$ calcinosis of the spine in @DISEASE$.	false
+e80e7a1bc190f40f6ae42e04d8e94123e257a877	The clinical features of @DISEASE$ can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and @PHENOTYPICFEATURE$ in males.	false
+41fbbfdf887deb894508cad3edd82a9b50363197	@DISEASE$ with an unusual rapid development of huge calcinosis (@PHENOTYPICFEATURE$ calcinosis).	false
+7c97a227bf8a8bf0f59c56de93422b70f222a4ad	The lupus anticoagulant was found in the plasma of 31 of 60 patients with systemic lupus erythematosus and other connective tissue disorders (mixed connective tissue disease, systemic @PHENOTYPICFEATURE$, polyarteritis nodosa, primary sicca syndrome, discoid lupus, Behcet's syndrome, and @DISEASE$).	false
+0abf2672659265e90f9ea6c298afd99d39322d1c	[The relations between progressive @DISEASE$ and malignant @PHENOTYPICFEATURE$].	false
+a2d470dbc2fbd810074f006d4814314b9c5953bd	No T1 stage @PHENOTYPICFEATURE$ showed stenosis or @DISEASE$.	false
+b25bc13d65463599ae0a9e597eed33a55e7bae0c	[A case of Turner syndrome complicated with Crohn's disease, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+d697ee0f16940e8276f7c5e31fe5a13b8d493f6f	Correlations between, on the one hand, age, gender, @PHENOTYPICFEATURE$, history of surgery, antiplatelet and/or anticoagulation treatment, the surgeon's experience, surgery time, repeated lymph node dissection, and surgical indication (cancer, @DISEASE$, Graves' disease or multinodular goiter) and, on the other hand, onset of postoperative complications (postoperative hypocalcemia, uni- or bi-lateral lesions of the recurrent laryngeal nerves, and premature compressive hematoma) were assessed.	false
+41deae9241e9c3bb985d03af762926f017e35f66	By conducting a systematic literature review, we extracted 329 articles regarding clinical, experimental and pathophysiological data on the relationship between @PHENOTYPICFEATURE$, adipokines - namely leptin, adiponectin, resistin, visfatin - and various immune-mediated conditions, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), inflammatory bowel disease (IBD), multiple sclerosis (MS), type-1 diabetes (T1D), psoriasis and psoriatic arthritis (PsA), and thyroid autoimmunity (TAI), especially @DISEASE$ (HT).	false
+d756e08d0f624e35818da0d7ce791ecdec2428e8	She was given a diagnosis of Crohn's disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+18e79d21b80143348d66103a2b3122cbd1a5750c	@DISEASE$ is characterized by branchial defects, hearing loss, preauricular pits, and @PHENOTYPICFEATURE$.	false
+a4832658cbf0f130a43a538df080368e05530ba1	@DISEASE$ (BOR) is an autosomal dominant developmental disorder characterized by hearing loss, branchial arch defects, and @PHENOTYPICFEATURE$.	false
+25b3ef76bd8603da3d038689ed9b451dd0ac4349	@DISEASE$ (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and @PHENOTYPICFEATURE$.	false
+7a7530289fd76721437bd8d2934cdfcab163a769	Molecular approach to the pathogenesis of @PHENOTYPICFEATURE$ in Kallmann's syndrome and in the @DISEASE$.	false
+b0df9dfc418b621e734e4306891700abf544e7c1	Branchio-oto-renal syndrome (@DISEASE$) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and @PHENOTYPICFEATURE$.	false
+bfa8cd4683c449fa1ccfb8408207d58d06fbc9f6	@DISEASE$ (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and @PHENOTYPICFEATURE$.	false
+02c2ca4d1d4b8e9f878f26cdcdde473619091f65	@DISEASE$ is a rare autosomal dominant disorder characterised by branchial arch anomaly, hearing loss, @PHENOTYPICFEATURE$ and other otologic manifestations.	false
+28c719693195beb10ae49514232f641816427364	@DISEASE$ (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and @PHENOTYPICFEATURE$.	false
+7892994784b7c29310e9d1f8124b12b5052a8477	The @DISEASE$ (BOR) is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and @PHENOTYPICFEATURE$.	false
+748936007c54620e1a950b5972e90339eb593721	Branchio-oto-renal syndrome (@DISEASE$) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and @PHENOTYPICFEATURE$.	false
+7cc568f801fac5abd0a9e8ee33986406af4f96be	@DISEASE$ (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and @PHENOTYPICFEATURE$.	false
+b7fbf509ae94c077c5f47c3e6c695acfa80cc2b2	The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and @PHENOTYPICFEATURE$ constitutes the branchio-oto-renal (BOR) syndrome also known as @DISEASE$.	false
+3f6db2239ee216f3365e0a59a15ed1f0ad239b70	@DISEASE$ (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, @PHENOTYPICFEATURE$, and craniofacial abnormalities.	false
+d67750393da3c9fd0b3e122fdf206980c4e5a87a	We report a case of the 3C (cranio-cerebello-cardiac) syndrome, also known as @DISEASE$, a rare autosomal recessive disorder characterized by craniofacial, cerebellar, and @PHENOTYPICFEATURE$.	false
+c234c14ae187960c7a0737e21aef46e7e9689e46	@DISEASE$ (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, @PHENOTYPICFEATURE$, and characteristic face.	false
+67cad94cffc2f3b1602bdde3809116734c6ff99e	Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, @DISEASE$) is a recently delineated disorder with Dandy-Walker malformation, @PHENOTYPICFEATURE$, and characteristic face.	false
+b6bf5d39825168dd208b716e9d4bebba13b3c1d4	@DISEASE$ (RSS) is a clinically heterogeneous disorder characterised by distinctive craniofacial features in addition to cerebellar and @PHENOTYPICFEATURE$.	false
+0e331c6277b2b52ca6662cf38c2872f43d37b36c	Ritscher-Schinzel syndrome, also known as the @DISEASE$, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and @PHENOTYPICFEATURE$.	false
+ce2546a2db11a7e267b1d8e1c47ae7b61fc91aaf	@DISEASE$, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and @PHENOTYPICFEATURE$.	false
+b2daedab152e79ad88c58bfb1839c5ad44dbc91f	Here we described six Brazilian patients with phenotypic manifestations that range from @DISEASE$/palate with @PHENOTYPICFEATURE$, branchial arch anomalies to semi-lobar holoprosencephaly.	false
+ee533c6e1412f1b5f9a58f8ee0f359038feacd1f	Conclusions : The present study revealed a high frequency of @PHENOTYPICFEATURE$ in @DISEASE$ and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate.	false
+2cec69b0a1ba0f62c830518039dedfd471a717d6	To examine the prevalence of different types of @PHENOTYPICFEATURE$ in children with @DISEASE$, unilateral cleft lip-palate, and bilateral cleft lip-palate.	false
+2fa46f91db35bc913b94d3b86441e18860de4346	Because @PHENOTYPICFEATURE$ may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with @DISEASE$ and/or palate.	false
+38270e7631d6130d6317aa1801e75a1b21102a58	We report the cases of three children, one male and two females, with a diagnosis of early @DISEASE$ demonstrating @PHENOTYPICFEATURE$ on computed tomography (CT).	false
+10b09225681fc426f1410f7307b87537e0383ab3	@PHENOTYPICFEATURE$ in early @DISEASE$: nothing new under the sun.	false
+f8b99d0d790280f953b1ac47bd297b773fe55e94	The main areas of interest include: papilledema and optic atrophy (with ophthalmoscopic signs of both optic atrophy and papilledema); @DISEASE$; papillitis; interesting malformations of the face, palate, and orbital position that occur in conjunction with microphthalmus, situs inversus, and hypoplasia and aplasia of the optic nerve; the proposed association of myopia with unusual eyebrows; myelinated nerve fibers at the nerve head; @PHENOTYPICFEATURE$; the continuing discussion of nerve-head blood supply; an unexpected cause for nerve-head neovascularization; the importance of the swinging-flashlight test in the diagnosis of glaucoma; an unusual type of glaucomatous cupping; doubts about the peripapillary "halo" as a sign of glaucoma; new uses for old field tests; and new methods of ocular photography.	false
+f95a89ed4f1a6a9b33b36756f1d7638d313e9fee	In conclusion, knowledge of the @DISEASE$ @PHENOTYPICFEATURE$ profile will enable better clinical surveillance in at-risk organs (i.e., liver, kidney).	false
+93fc9ffa368b2098aac5729b939a2fd5597fb8d9	A @PHENOTYPICFEATURE$ profile in @DISEASE$ (trisomy 18).	false
+0aa94a6dabd4c577fc544c120e1196ce572bddcd	To determine the @PHENOTYPICFEATURE$ profile associated with @DISEASE$, we performed a systematic review of the literature.	false
+f3f41f16f4ba11f0490936b313a25eed2bf08317	The tumor profile in Patau syndrome differs from that observed in @DISEASE$ (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular @PHENOTYPICFEATURE$ formations as it does particular malformations.	false
+b25cd75cd1f0da92d086222f3d6ba9879e0c49b2	The @PHENOTYPICFEATURE$ profile in Patau syndrome differs from that observed in @DISEASE$ (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations.	false
+21dfa2ec074334b71739687bbe97f0e7fb09854a	@PHENOTYPICFEATURE$, Episodic Rhabdomyolysis, and @DISEASE$ in a Patient with Mitochondrial Trifunctional Protein Deficiency.	false
+92d48ea29e98c372c796a10387280da4eea2e3b0	Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by @PHENOTYPICFEATURE$, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and @DISEASE$.	false
+49f63ea3813eb5ffd1bc0c0cbdd2971dd8a69da4	Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by @PHENOTYPICFEATURE$, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and @DISEASE$.	false
+3d4738feb3f310fc1cb86f0d3a5ae802dd71d619	@PHENOTYPICFEATURE$ was found in four cases and hypocalcemia due to @DISEASE$, which is rarely reported in Caucasian patients, had developed in four cases.	false
+b4c150d7e22cb66b0c183aee9e862e4247b740bd	Reversible @PHENOTYPICFEATURE$ in idiopathic @DISEASE$.	false
+75ecbf036742c5bf39d991240803416f6843a57f	When the acylcarnitine profile was repeated after the episode of rhabdomyolysis had resolved it showed no abnormalities.Our case illustrates a cluster of @PHENOTYPICFEATURE$, episodic rhabdomyolysis, and @DISEASE$ in a patient with MTP deficiency caused by mutations in the HADHB gene.	false
+1f7a9c990ae8d0b8ed8c54a8943cd31e5e0e9fe9	@DISEASE$-retardation-dysmorphism (HRD) syndrome, an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities, is characterized by @PHENOTYPICFEATURE$, the etiology of which is unclear.	false
+7b553cdb57d08f58d1daad5aa164c8042855dfda	Occurrence of @PHENOTYPICFEATURE$ in hypocalcaemic states such as @DISEASE$ and its reversibility after normalization of calcium homeostasis lend proof to the role of critical Ca2+ ion concentration in the normal functioning of the peripheral axons.	false
+9eec21f184dd06f3f02aec78e34650d3aa001baa	Adrenal insufficiency, @DISEASE$ and @PHENOTYPICFEATURE$ were not detected.	false
+c7eb8aff55e926c2fd608ed7174571bcb5709cc9	Other frequent manifestations include: sensorineural deafness, diabetes, @DISEASE$, @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+7820048c59559c80111df34bf4088e85b8d9c469	@PHENOTYPICFEATURE$ @DISEASE$ and tumoral calcinosis (TC) are rare non-neoplastic conditions which may cause symptoms of spinal cord compression when they manifest in the perispinal tissues.	false
+535148b2101264fa2f1557d56fd5f0fba39c2ad4	Tumoral @DISEASE$ and @PHENOTYPICFEATURE$ calcinosis (TC) are rare non-neoplastic conditions which may cause symptoms of spinal cord compression when they manifest in the perispinal tissues.	false
+bf34b21ed87be2a2cd2c75232ac632b178743e75	Tumoral calcinosis is a rare @PHENOTYPICFEATURE$ @DISEASE$ which presents as periarticular soft tissue calcification.	false
+c2aa23cd14f1d910a75209397d57cb265f45eccb	A case of @PHENOTYPICFEATURE$ @DISEASE$ involving the upper cervical spine is reported.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+f484e31d62bc459dd55273188a09f2e4870091e0	@PHENOTYPICFEATURE$ @DISEASE$: a rare diagnosis by fine-needle aspiration.	false
+1f964320ef7874e03a33df2f2c18425809a4caf7	@PHENOTYPICFEATURE$ @DISEASE$ (tophaceous pseudogout) of the hand: a report of two cases including one with a previously unreported associated florid reactive myofibroblastic proliferation.	false
+ee794a9c8e3580031146069ae9c25e04a817fd9a	@PHENOTYPICFEATURE$ @DISEASE$ presenting clinically as a malignant soft tissue mass diagnosed on fine needle aspiration biopsy.	false
+3219665c7053e1e8a79f4ba2383646deddc9a9e7	Tophaceous pseudogout (@PHENOTYPICFEATURE$ @DISEASE$).	false
+0699784e8fda5b2c8482a28092c6219daf4e135c	Herein we investigated whether decreased Endo1 expression in the hypothalamic @DISEASE$, associated with reduced @PHENOTYPICFEATURE$, could also ameliorate glucose homeostasis accordingly.	false
+d238787afff8fc08eb76881e20dc9df11f9f8349	Treatment of newborn mice with monosodium glutamate (MSG) is neurotoxic for hypothalamic arcuate nucleus (@DISEASE$) and causes @PHENOTYPICFEATURE$.	false
+c919c70a2303de1feeb26a699023b9433d093ed1	The principal presentation leading to discovery of the @DISEASE$ was @PHENOTYPICFEATURE$ (68.9%).	false
+a8712ca1d9213e9456a67a47cef0ee2978f01916	Resistance to leptin in the @DISEASE$ is an important component of the development of @PHENOTYPICFEATURE$ and type?2 diabetes.	false
+284c31575cfe1617c2195f94d66b6af9357fa85c	@DISEASE$ (CPVT) is a channelopathy characterized by adrenergic mediated @PHENOTYPICFEATURE$.	false
+5ba75ebe3114747347a8f111942aefb51a1447a8	Left cardiac sympathetic denervation (LCSD) has been underutilized in patients with hereditary @PHENOTYPICFEATURE$ syndromes such as congenital long QT syndrome (LQTS) and @DISEASE$ (CPVT).	false
+80b125cd56beac392f0c0efca6120028f11fa587	@DISEASE$ (CPVT) is a lethal @PHENOTYPICFEATURE$ evoked by physical or emotional stress.	false
+8f9089eff30b6cb82f51b0200c2a018c09393ece	In contrast to other @DISEASE$ patients who do not usually have structural cardiac abnormalities, these patients are at a high risk of developing @PHENOTYPICFEATURE$ or dilated cardiomyopathy and therefore might benefit from cardiac imaging at regular intervals.	false
+7b0e67f46558edca90f4469b03620e7ed9faa718	LCSD conferred short-term suppression but less than optimal long-term suppression of exercise-induced @PHENOTYPICFEATURE$ among CASQ2-associated @DISEASE$ patients.	false
+32085fff40bdaaee48c2fb720c070b00bcc5b13e	@PHENOTYPICFEATURE$ were more frequently observed at baseline in ATS patients compared with @DISEASE$ patients [the ratio of ventricular premature beats (VPBs)/sinus: 0.83???1.87 vs. 0.06???0.30, P?=?0.01].	false
+a2ded7b87741d90c4ba12d5e2a7d9cf19376f3d8	@DISEASE$ (CPVT) predisposes to @PHENOTYPICFEATURE$ due to altered Ca(2+) homeostasis and can arise from ryanodine receptor (RyR2) mutations including RyR2-P2328S.	false
+8da007fb61984343a19c8e366e12eb244f7095f0	Calmodulin (CaM) mutations are associated with an autosomal dominant syndrome of @PHENOTYPICFEATURE$ and sudden death that can present with divergent clinical features of @DISEASE$ (CPVT) or long QT syndrome (LQTS).	false
+fd6e9747ff486754f3bec7a793a5530b6aef9745	In pediatric @DISEASE$ patients, @PHENOTYPICFEATURE$ are more likely to occur in the afternoon and evening hours.	false
+e84569c79cd68bd0bcaebecf7550c142f7b8be0d	@DISEASE$ (CPVT) is an ion channelopathy characterized by @PHENOTYPICFEATURE$ during exertion or stress.	false
+7eebad9fc1b7c0934d389235ef319b7383617a42	Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with @DISEASE$ with @PHENOTYPICFEATURE$ and calcifications in basal ganglia.	false
+91a96ca0347a0730f6c3e0296f7a775602caf75d	@PHENOTYPICFEATURE$ is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alstr?m disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and @DISEASE$.	false
+6db73ca953cd541ea1bc687925038ae77bc07733	Of 47 patients with neonatal @PHENOTYPICFEATURE$, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and @DISEASE$, and thus were diagnosed as having NICCD.	false
+16d2d56879f94c7e5b131066471673a62110a29a	@DISEASE$ is a poorly chemo sensitive @PHENOTYPICFEATURE$.	false
+0f058024ca24683c98a42fb58a7f49def6560c96	@DISEASE$ (ASPS) is a rare @PHENOTYPICFEATURE$.	false
+f21596a3043331395cb7f37befd935eda93839b1	Alveolar soft part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+0f058024ca24683c98a42fb58a7f49def6560c96	@DISEASE$ (ASPS) is a rare @PHENOTYPICFEATURE$.	false
+46dba2de715e5a992609cd000b731660a4cd4856	Alveolar soft-part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+8b764ff6778f9112d5afbc54aa26a9c197f3ae61	@DISEASE$ is a very rare @PHENOTYPICFEATURE$.	false
+630216c85e6b59735d5b4e3e6e0783d6a919c3bf	Alveolar soft part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ of uncertain histogenesis, mainly localized in the extremities.	false
+05eba2643b3bf72070b0f52754578f3695c122c2	@DISEASE$ (ASPS) is a rare @PHENOTYPICFEATURE$ of uncertain histogenesis, mainly localized in the extremities.	false
+0f058024ca24683c98a42fb58a7f49def6560c96	@DISEASE$ (ASPS) is a rare @PHENOTYPICFEATURE$.	false
+46dba2de715e5a992609cd000b731660a4cd4856	Alveolar soft-part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+62bb2d82c0d0ace8fa7ac7599939249176e3ec8d	@DISEASE$ (ASPS) is an aggressive, rare @PHENOTYPICFEATURE$ with unique morphological and histopathological features.	false
+c12fa8a1c4ac9f5f23489d0bd718f2e89b01a1de	Alveolar soft part sarcoma (@DISEASE$) is an aggressive, rare @PHENOTYPICFEATURE$ with unique morphological and histopathological features.	false
+d1d025494d4ee5f6d389bb9a54e8bd4ba47aa1ac	@DISEASE$ and solitary fibrous @PHENOTYPICFEATURE$).	false
+5481e7c6a028138495317ad5182c53b482a797bf	@DISEASE$ (ASPS) is a rare soft tissue @PHENOTYPICFEATURE$ of uncertain cellular origin.	false
+c2b319c77c5bb208b35d64c9289a5185451c91e4	Alveolar soft-part sarcoma (@DISEASE$) is a rare soft tissue @PHENOTYPICFEATURE$ of uncertain cellular origin.	false
+7e18ed9c52ff7f02272995f363f4a242bb33dadc	@DISEASE$ (ASPS) is a rare and often fatal @PHENOTYPICFEATURE$.	false
+732f85604ff2ef1953cb00e25b8ead205542203a	Alveolar soft-part sarcoma (@DISEASE$) is a rare and often fatal @PHENOTYPICFEATURE$.	false
+6b400968480ebb195af6afc82b1e2af971d47d4c	The intracranial occlusive disease without V1 lesion was usually correlated with @PHENOTYPICFEATURE$ lesions in PICA and superior cerebellar artery (@DISEASE$) cerebellum.	false
+504ac6ca5c1afeb255717c86c1e691d93279a52b	It is concluded that glomerular damage in adults with @DISEASE$ is very common, and a majority of patients with SS disease are at risk for the development of progressive @PHENOTYPICFEATURE$.	false
+8c0e4f3311036fe024052ef7cdc4a2a377b132ce	Chronic obstructive lesions of the subclavian artery (@DISEASE$) often result in subclavian steal syndrome, which leads to arm claudication, transient @PHENOTYPICFEATURE$, and other serious complications.	false
+d47123414d4c19d85d5856a1e084ef0beeaa47dd	Age, sex, @PHENOTYPICFEATURE$ size, cavernous sinus invasion, or @DISEASE$ subtypes were not associated with outcome.	false
+2d51d34b39fa12f1a786925bc19b106f866d5232	As the main technique, the refinement of the pre-expanded superficial cervical artery (@DISEASE$) flaps may improve its application in diverse neck @PHENOTYPICFEATURE$.	false
+cffb6467d9bd512a2f3328fac04bb99367530f67	The current study describes a patient with @DISEASE$ and DHTR secondary to red cell anti-s antibody, manifesting as painful extremeties, severe hemolytic anemia, and acute oliguric @PHENOTYPICFEATURE$.	false
+c77060d0444273b854ccfa115894aa3afa866b32	Total surgical resection for @DISEASE$ is often challenging as these @PHENOTYPICFEATURE$ frequently invade a cavernous sinus.	false
+810814073b6907e7878ce1c7d9f0723021e90cb1	Increased radiation dose may lead to improved @PHENOTYPICFEATURE$ control in @DISEASE$ patients.	false
+ff909e67dbc1a2eddd2fea4a1a4bb07d186daf15	A comparison of these 6 patients with those reported previously in Japan suggests that patients with @DISEASE$ occlusion may be divided into two distinct subgroups: one manifesting diffuse brain stem signs in addition to @PHENOTYPICFEATURE$, and the other showing cerebellar signs as the only neurologic manifestation.	false
+e892aaabd5e9db69465453f4767e7c062b637692	Thus, the @PHENOTYPICFEATURE$ was suspected of being a serous cystadenoma (@DISEASE$).	false
+7f6ce61a667a34904f8f5d83c480361e9b4e6a66	Recently, in a mouse model of @DISEASE$, a monogenic cerebral small vessel disease, intramyelinic @PHENOTYPICFEATURE$ was detected in the white matter (WM) early during the course of the disease.	false
+b1e054b49ec2ec7147f0cfc314eb4e0f327e63c5	Patients with @DISEASE$ have larger WM volume than age- and sex-matched controls, a finding compatible with the hypothesis of intramyelinic @PHENOTYPICFEATURE$ as observed recently in mice.	false
+ce1dd939614b4213a6d21c53e448b58eab068a2d	Three patients with the osteochondrodysplasia and @PHENOTYPICFEATURE$ syndrome--@DISEASE$.	false
+60af31c9c80799c71745a7981403b9ef88809313	@DISEASE$, or hypertrichosis-osteodysplasia-cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with @PHENOTYPICFEATURE$, characteristic facial features, skeletal abnormalities, cardiomegaly, and occasional pericardial effusions.	false
+d7df5d814f75a07616cf9fa08bc02fde023eecaf	@DISEASE$ is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital @PHENOTYPICFEATURE$, and cardiomegaly.	false
+d9b1d13984e90232d1aec08cb62853d332e5d564	@DISEASE$ is a rare condition which is characterized clinically by @PHENOTYPICFEATURE$, cardiomegaly and bone abnormalities.	false
+f8520f975a9b68a0cf839678c06a438dc79dc3a8	An overlap between @DISEASE$, acromegaloid facial syndrome, and @PHENOTYPICFEATURE$ acromegaloid facial features disorder is apparent at the phenotypic and molecular levels.	false
+0dba45948127dd97d818f5eb847cd5ae75e3d620	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and @PHENOTYPICFEATURE$ familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and @DISEASE$.	false
+4cf5fb3b9d8e8f5b88856fda62192c75d40b0386	This case illustrates that increased intracranial pressure may in exceptional cases of spinal @PHENOTYPICFEATURE$ precede the more typical myelopathic presentation by months and mimic @DISEASE$.	false
+3322497f878f0525f87cfcb9b6540238726b1c31	The authors present a case of a patient who was diagnosed with @DISEASE$ and treated with serial lumbar punctures for 4 years prior to her final diagnosis of a large intracranial @PHENOTYPICFEATURE$.	false
+598c269f7e4d774240cabd8ca5a565a97b31dc43	We examined by electron microscopy (EM) biopsies from the cortical parenchyma of 10 @DISEASE$ patients and 8 reference subjects (patients, not healthy individuals), in whom tissue was retrieved from other elective and necessary brain surgeries (epilepsy, @PHENOTYPICFEATURE$ or vascular diseases).	false
+5aa722dc086cb5a92207349418aa9935157a6124	In a retrospective analysis, the MRI findings of 21 patients with @DISEASE$ and 60 patients with secondary intracranial hypertension (41 with @PHENOTYPICFEATURE$; 19 with intracranial venous hypertension) were evaluated for the presence or absence of various "traditional" imaging signs of IIH (perioptic nerve sheath distention, vertical buckling of optic nerve, globe flattening, optic nerve head protrusion and empty sella) using the Fisher's exact test.	false
+ec37c001939761fd34df4700d320c5220674d20e	Intracranial causes of headache include @PHENOTYPICFEATURE$, haematomas, infections, @DISEASE$ and vascular disorders.	false
+3b5ee4587dc5a27ee230297a626b99e7fb5f8466	The study included 14 @DISEASE$ patients and 14 reference (REF) subjects undergoing neurosurgery for epilepsy, aneurysm, or @PHENOTYPICFEATURE$.	false
+54fc70f2855815f56c17ba9b02e9320e8af2fd31	Subgroup analysis of the @DISEASE$ versus @PHENOTYPICFEATURE$ and IIH versus venous hypertension were performed.	false
+b3123c8da680cda39c2262c995f6529cffb9d3f6	The indications included acute fulminant myocarditis (AFM) (n = 6), congenital diaphragmatic hernia (CDH) (n = 3), acute respiratory distress syndrome (ARDS) (n = 6), enterovirus 71 (n = 3), viral sepsis (n = 2), refractory ventricular fibrillation due to @DISEASE$ (n = 1), and @PHENOTYPICFEATURE$ with brain herniation (n = 1).	false
+3d387e6f373043166e1f761acd6e46df52036af8	Case 2 was a 6-month-old male infant with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+09d252e69da48fa068e9271007fb79d5f38cd076	Aicardi-Gouti?res syndrome (AGS) is another inherited @DISEASE$ with @PHENOTYPICFEATURE$ mimicking congenital infection.	false
+361cf40a48af31daa87f00555392b4c62bde8203	Patients with 4H @DISEASE$ should be counseled about disease progression and about this disease's @PHENOTYPICFEATURE$ pattern.	false
+81d35546188c392f88629109c8fbf7bbd5799fc7	Extensive @PHENOTYPICFEATURE$, @DISEASE$, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.	false
+e993d221e2b67339412dd9088076802bd5d3ed2f	4H syndrome is a rare and distinct @DISEASE$ characterized by hypomyelination, @PHENOTYPICFEATURE$, and hypodontia.	false
+2531aa624946d3af8684d52e77a1a215248d72ba	The 4H syndrome (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized @DISEASE$.	false
+f6a80cf701fcd216a7a0c3bf23a7e9ee007ceb1e	4H @DISEASE$ is an @PHENOTYPICFEATURE$ RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism.	false
+0a4951d75cfd1436f1915e031f672bb70215977f	4H leukodystrophy is an autosomal recessive RNA polymerase III-related @DISEASE$, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and @PHENOTYPICFEATURE$.	false
+4f056a5ace357e7eed821526d5a1e1d4f5df0ccf	4H @DISEASE$ is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and @PHENOTYPICFEATURE$.	false
+07e391a186af3767e389780e161b0dfe4b664845	4H leukodystrophy is an @PHENOTYPICFEATURE$ RNA polymerase III-related @DISEASE$, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism.	false
+2531aa624946d3af8684d52e77a1a215248d72ba	The 4H syndrome (hypomyelination, hypodontia, @PHENOTYPICFEATURE$) is a newly recognized @DISEASE$.	false
+7d710d00da4233edb767523d72c9ec94b665a355	Mutant NDUFV1 subunit of mitochondrial complex I causes @DISEASE$ and @PHENOTYPICFEATURE$ epilepsy.	false
+bcaf6feb8a5a3743ccdd591e946596122af58602	Infantile familial encephalopathy with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+950b57f3df7b4da950d47141d7ee5e3e401a8410	Magnetic resonance imaging in infantile encephalopathy with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+08a0b2e381265c2a081e83295c810af084f8019f	Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial @PHENOTYPICFEATURE$ calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and @DISEASE$.	false
+5cf46f513604a5457fe6c7ccce2e453de3f4282e	@DISEASE$ (SCA10) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, seizures, and anticipation.	false
+82ac2a193a0dd54c4315a33623d876047d852c4b	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disorder manifested by @PHENOTYPICFEATURE$ and seizure.	false
+b5852e5a6bd0acec4ca405d9ca84d3367f115f03	@DISEASE$ (SCA10) is an autosomal dominant neurodegenerative disease characterized by @PHENOTYPICFEATURE$ and seizures.	false
+9e49eaef8f1d426059a765c2414c0a1555755072	Acute onset of @PHENOTYPICFEATURE$ in a @DISEASE$ patient after use of steroids.	false
+959d342a6a29cd1f70299876226d65f1b717d4ad	tracts associated with Friedreich @PHENOTYPICFEATURE$, DM2, and @DISEASE$, respectively.	false
+d143d9272096a85406fb7c7a3721464de64fb1c1	@DISEASE$ (SCA10) is a rare form of autosomal dominant @PHENOTYPICFEATURE$ found predominantly in patients from Latin America with Amerindian ancestry.	false
+cc21984f717dc9cc13b89b91571dfb6d3fa638fa	Alu elements are known to be the source of microsatellite repeats responsible for two other repeat expansion disorders: Friedreich @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5d1d035b6afb412a4893f0ae4598c2ee59cf584f	@DISEASE$ (SCA10) is an autosomal dominant neurologic disorder, whose symptoms include @PHENOTYPICFEATURE$ and epilepsy.	false
+dea3b9f19e9acc4b57bea107ea5eafd057cc92c7	@DISEASE$ (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and seizures.	false
+afffe6f71da67a6c2b06d6099ae8161e90a7f8e9	@DISEASE$ (SCA10) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$ and seizures.	false
+fdd4efeed5786f369cbfa523a3348f55ed7411ff	These findings indicate that downregulation of PHD3 and @DISEASE$ in HCC is associated with more aggressive @PHENOTYPICFEATURE$ behavior and a poor prognosis.	false
+431f992d7a00b9a5f081652eb2b9a2a84a069826	@PHENOTYPICFEATURE$ stage, grade, diameter, metastastic disease and intensity of nuclear @DISEASE$ were significantly correlated to OS in univariable analysis (p = 0.023).	false
+9b8cfa832cc34b8801f1c941ddf79899aa02996e	This study provides novel clues indicating that miR-21, miR-31, and miR-184 co-target @DISEASE$ @PHENOTYPICFEATURE$ suppressor during pathogenesis in the vast majority of HNSCC.	false
+9690ad586783dbe921d9aed333fc9e946728ec88	The lower expression of @DISEASE$ in @PHENOTYPICFEATURE$ was associated with incomplete tumor encapsulation, vascular invasion, as well as higher TNM stage, BCLC stage, microvascular density and Ki-67 LI (p < 0.05).	false
+97fb33d22e9e28863a8b967783d746cefe67b9bc	The lower expression of @DISEASE$ in tumor was associated with incomplete @PHENOTYPICFEATURE$ encapsulation, vascular invasion, as well as higher TNM stage, BCLC stage, microvascular density and Ki-67 LI (p < 0.05).	false
+ab014678c533031ec17c0f11bc0aaddf5f75794d	Tissue microarray and RT-PCR analysis of @PHENOTYPICFEATURE$ tissues and adjacent non-tumor liver tissues revealed that mRNA and protein levels of both PHD3 and @DISEASE$ were lower within tumors.	false
+4719d648d40e243b08062cb2f7e3c2b839ccdca9	Tissue microarray and RT-PCR analysis of tumor tissues and adjacent non-tumor liver tissues revealed that mRNA and protein levels of both PHD3 and @DISEASE$ were lower within @PHENOTYPICFEATURE$.	false
+8fb300064bb881007105f0f9fb3ae23e769fa473	Patients with simultaneously reduced expression of PHD3 and @DISEASE$ exhibited the least chance of forming @PHENOTYPICFEATURE$ encapsulation, highest TNM stage (p < 0.0083), lowest OS and highest recurrence rate (p < 0.05).	false
+399dfeb4bcdec26c4c800c0aa36373177d52426f	To describe a successful neurorescue technique in a patient with @PHENOTYPICFEATURE$ followed by hemiparesis immediately after carotid artery stenting (@DISEASE$) for a postsurgical restenosis.	false
+4abedc1feeabaffb746a7d498e7e42ad1c44abc0	Patients who underwent CEA and @DISEASE$ differed in a few notable ways, including age, race, admission type, and comorbid conditions such as congestive heart failure, hemiplegia and @PHENOTYPICFEATURE$, and renal disease.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+74f43b18459e648d4bb8c5b966a6910ef1f42eca	The indications for @DISEASE$ were severe heart disease (45.1%), severe pulmonary disease (6.4%), @PHENOTYPICFEATURE$ of the contralateral laryngeal nerve (6.4%), recurrent stenosis (3.2%), and high carotid lesion (1.6%).	false
+31617b08af823ab9c3f499580cfe28889dcb1db2	The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (@DISEASE$, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, @PHENOTYPICFEATURE$, and clefting.	false
+2fad04a11909f1f5083351ff71e3c6655bd4ab6b	The syndrome that is autosomal dominantly inherited and characterized by @DISEASE$, @PHENOTYPICFEATURE$, and normal hair is known as hypodontia-nail dysplasia syndrome, or tooth-and-nail syndrome.	false
+92462be6bc5b2d0f65a98b02f135aa8e89589ac8	Patients with @DISEASE$ should be examined for @PHENOTYPICFEATURE$ of the hands and feet and referred to medical and dental genetic specialists for verification of the diagnosis and counseling.	false
+6995ff5f2c604bd75d872f8c19d193574d4efe73	ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+344bd9d00a088bedea737567600837968cc93645	In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cc45d3d5aa20030995bfdd45b8ec73be7341f21c	The main findings in both children are: @DISEASE$, abnormally shaped teeth, @PHENOTYPICFEATURE$, pili annulati, follicular hyperkeratosis on the trunk and limbs, intensified delineation and reticular hyperpigmentation of the nape, and hyperopia; one of the siblings also has astigmatism.	false
+f139c6a1d24dbaa038752b454f2e5bcc93fc42cb	The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; @DISEASE$; hypohidrosis; and @PHENOTYPICFEATURE$.	false
+77f826e8952d7b4f6aedc824d3f42a38737a6682	He had ectrodactyly and missing middle fingers bilaterally, @PHENOTYPICFEATURE$, @DISEASE$ with missing teeth, hypohidrosis and lacrimal duct obstruction.	false
+b2d812dfc44ca1b617bd4fb395c52abee5e64831	Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, @PHENOTYPICFEATURE$, lacrimal duct atresia, primary @DISEASE$ and early loss of permanent teeth.	false
+8cb7590c9710206514041e6eb6a2a0fa964f2de8	Less frequent findings include lacrimal-duct atresia, @PHENOTYPICFEATURE$, hypohydrosis, @DISEASE$, and cleft palate with or without bifid uvula.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+3f30aac8e58e0f02218c6b159ed2df9dbf75df02	@PHENOTYPICFEATURE$ represent a major clinical burden in patients affected by the lysosomal storage disorder @DISEASE$ (MPSII, OMIM #309900).	false
+86bc0b34e0abd969b0b8ec4b3cca77735fde30a7	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+e2d5b0dac5fc2e22ef41dc11d2410e830a2291fe	@DISEASE$ (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and @PHENOTYPICFEATURE$, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase).	false
+3d002eefb076ed4174303e96a7422b209b661544	@DISEASE$ (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to @PHENOTYPICFEATURE$ as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea.	false
+57b3221f270afb53d6a0bcf3c3a94a45ee6d6cf2	Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (@DISEASE$) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical @PHENOTYPICFEATURE$, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+b6acd1e2c211fa39ae261c7b60e102c74c07b7d8	Hypoparathyroidism-retardation-dysmorphism (HRD) or @DISEASE$ (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical @PHENOTYPICFEATURE$, consisting of prominent forehead, deep-set eyes, and abnormal external ears.	false
+ad6e2c1ccc48ffbc70ae593b1e3c376ee199766d	Despite recent reports on the complications of atrial fibrillation (AF) and @PHENOTYPICFEATURE$ (LVNC) in patients with @DISEASE$ caused by HCN4 mutations, their overall clinical spectrum remains unknown.	false
+ffedeb9667f9f3ae0ff336be71ac07fd3a251d33	We report on a 41/2-year-old girl with congenital hypoPTH, seizures, developmental delay, and a @PHENOTYPICFEATURE$, compatible with @DISEASE$.	false
+19d2a3cf42389db6b4a69abeafd013c07e74e3b3	The syndrome of congenital hypoparathyroidism, mental retardation, @PHENOTYPICFEATURE$ and extreme growth failure (HRD or @DISEASE$; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.	false
+e84beedadfa163f98fb6ad54a0280341e351c946	We report 13-year-old Hindu boy with hypoparathyroidism, tetany, @PHENOTYPICFEATURE$ and developmental delay, compatible with @DISEASE$.	false
+e5be0e82230ab349769b50070a24133aa8349f5b	Other diagnoses included fourth nerve palsy, sixth nerve palsy, Brown syndrome, congenital muscular @DISEASE$, @PHENOTYPICFEATURE$, and blowout orbital fracture.	false
+db07e2234a78e0c7a80e311ffff5656ce19e2701	A diagnostic examination for @PHENOTYPICFEATURE$ in a boy with chronic ulcers of the feet due to @DISEASE$, a rare disorder associated with intractable ulcers of the skin, led to the diagnosis of growth hormone (GH) deficiency.	false
+0f059306a2482e2022c0ee6e9e723d29732c0cd9	Additional features of @DISEASE$ included mental retardation, @PHENOTYPICFEATURE$, extensive dental caries, and multiple malar teleangiectases.	false
+04a6464ec635c734ac83902fbd0b65bc2ce7591b	VHL is caused by mutations in the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene.	false
+5de193f578bc1f8e3af8121604b5d127626cc1d6	@DISEASE$ is caused by mutations in the VHL @PHENOTYPICFEATURE$ suppressor gene.	false
+87bba965615fc892e455c9a31f51662366e6ce0e	No @DISEASE$ related or sporadic @PHENOTYPICFEATURE$ demonstrated VHL promoter hypermethylation.	false
+7af7bd8ab5ea8984b39cf996614f41c4997b15d2	No von Hippel-Lindau disease related or sporadic @PHENOTYPICFEATURE$ demonstrated @DISEASE$ promoter hypermethylation.	false
+a1d366bec9b07379cb47803343b11ef90d0e37c6	However, subsequent review of the preoperative MRIs and postoperative imaging studies showed two @PHENOTYPICFEATURE$ lesions, probably hemangioblastomas, and renal, pancreatic, and adnexal cysts, establishing the diagnosis of @DISEASE$.	false
+e807287435468616b30efcad11fe5fdebe0a1a98	Multiple mutations in @DISEASE$ were found in 17 @PHENOTYPICFEATURE$ out of 47 tumors with the VHL mutation.	false
+c981e31259ae6298f01b2247df87a6df41652d85	Multiple mutations in VHL were found in 17 @PHENOTYPICFEATURE$ out of 47 tumors with the @DISEASE$ mutation.	false
+8da94b65c4584f7bae41ca919e6833578c7ab2dd	Multiple mutations in VHL were found in 17 tumors out of 47 @PHENOTYPICFEATURE$ with the @DISEASE$ mutation.	false
+497fc070db14983c9974d7a24c8150395a78ef9d	Multiple mutations in @DISEASE$ were found in 17 tumors out of 47 @PHENOTYPICFEATURE$ with the VHL mutation.	false
+5fcc0f23ab6a795a607da01b74bc0e4a981fd491	Von Hippel-Lindau disease (VHL) is caused by germline mutations in the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene.	false
+23dc329360db4665700021dceb8d91a60a0cbba7	@DISEASE$ (VHL) is caused by germline mutations in the VHL @PHENOTYPICFEATURE$ suppressor gene.	false
+74d3f1d938c3415da3ae3735f58e27bda1b28c51	Von Hippel-Lindau disease (@DISEASE$) is caused by germline mutations in the VHL @PHENOTYPICFEATURE$ suppressor gene.	false
+9a3f500eef3c0a0771a57c5c13d7f680b9641bee	Diagnosis of VHL is justified in patients presenting with a typical VHL @PHENOTYPICFEATURE$ with a positive family history, but patients with a @DISEASE$ tumour and a negative family history may also have VHL.	false
+ab50c0ff23d7e353fd0f0005095c6f4fc0776238	Diagnosis of VHL is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a @DISEASE$ @PHENOTYPICFEATURE$ and a negative family history may also have VHL.	false
+1632123d7a018289d730b2f1dbddbe4e2095454d	Diagnosis of VHL is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a VHL @PHENOTYPICFEATURE$ and a negative family history may also have @DISEASE$.	false
+11a5e87a9ee385e5ca44b72ee6ed9c6c8d06ac9e	Diagnosis of VHL is justified in patients presenting with a typical @DISEASE$ tumour with a positive family history, but patients with a VHL @PHENOTYPICFEATURE$ and a negative family history may also have VHL.	false
+82cfd62d4dc3836c6d3417783290b76f0b768bfe	Diagnosis of @DISEASE$ is justified in patients presenting with a typical VHL tumour with a positive family history, but patients with a VHL @PHENOTYPICFEATURE$ and a negative family history may also have VHL.	false
+3f5ecd987fd27f4c2ab89a77613375c8acaa762e	Diagnosis of VHL is justified in patients presenting with a typical VHL @PHENOTYPICFEATURE$ with a positive family history, but patients with a VHL tumour and a negative family history may also have @DISEASE$.	false
+1365e4c15f9bea5bb2c8c3d41d5cd3441e297f20	Diagnosis of VHL is justified in patients presenting with a typical @DISEASE$ @PHENOTYPICFEATURE$ with a positive family history, but patients with a VHL tumour and a negative family history may also have VHL.	false
+747c99ae390ae81b4e8d728e70996090778448ed	Diagnosis of @DISEASE$ is justified in patients presenting with a typical VHL @PHENOTYPICFEATURE$ with a positive family history, but patients with a VHL tumour and a negative family history may also have VHL.	false
+f98560e427ff9f7cacd514612e6a4f180fa914d9	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the @PHENOTYPICFEATURE$-suppressor criteria in VHL and non-@DISEASE$ sporadic tumours indicate an important role of the VHL gene in the development of these tumours.	false
+dca4d0ba634de73161f335ab58efe47e4f5f43ce	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the tumour-suppressor criteria in @DISEASE$ and non-VHL sporadic @PHENOTYPICFEATURE$ indicate an important role of the VHL gene in the development of these tumours.	false
+d222cf69ec3be19d57d4a3192d83bee20097a4eb	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the tumour-suppressor criteria in VHL and non-VHL sporadic @PHENOTYPICFEATURE$ indicate an important role of the @DISEASE$ gene in the development of these tumours.	false
+32683199712627fac13dfed522c7deeb602d6958	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the tumour-suppressor criteria in VHL and non-@DISEASE$ sporadic @PHENOTYPICFEATURE$ indicate an important role of the VHL gene in the development of these tumours.	false
+043fc655a3f1ff192b464c67ec839726d1199646	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the tumour-suppressor criteria in VHL and non-VHL sporadic tumours indicate an important role of the @DISEASE$ gene in the development of these @PHENOTYPICFEATURE$.	false
+04d7f2755061571fa55839ff04ae6b04106c4401	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the tumour-suppressor criteria in VHL and non-@DISEASE$ sporadic tumours indicate an important role of the VHL gene in the development of these @PHENOTYPICFEATURE$.	false
+c73cefdc57685749e8049dfc513bd1b69b421713	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the @PHENOTYPICFEATURE$-suppressor criteria in @DISEASE$ and non-VHL sporadic tumours indicate an important role of the VHL gene in the development of these tumours.	false
+f202fc4ea98bf7d0c61ad93ebed25a8bde9325e5	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the @PHENOTYPICFEATURE$-suppressor criteria in VHL and non-VHL sporadic tumours indicate an important role of the @DISEASE$ gene in the development of these tumours.	false
+82653783a696ade2b94e36a0c827da98c8a7cd5c	Insights into the molecular basis of phenotypic variability in @DISEASE$ disease and the confirmation of the @PHENOTYPICFEATURE$-suppressor criteria in VHL and non-VHL sporadic tumours indicate an important role of the VHL gene in the development of these tumours.	false
+517366b4e065e221805fe4fc138cba1a0b3ac0a4	Insights into the molecular basis of phenotypic variability in @DISEASE$ disease and the confirmation of the tumour-suppressor criteria in VHL and non-VHL sporadic @PHENOTYPICFEATURE$ indicate an important role of the VHL gene in the development of these tumours.	false
+686cc8813b338c44fa91ff8f30dbfff705a9716b	Insights into the molecular basis of phenotypic variability in @DISEASE$ disease and the confirmation of the tumour-suppressor criteria in VHL and non-VHL sporadic tumours indicate an important role of the VHL gene in the development of these @PHENOTYPICFEATURE$.	false
+9596a282b3a00574f01ae25b946ffd6f4f16f5a8	Insights into the molecular basis of phenotypic variability in VHL disease and the confirmation of the tumour-suppressor criteria in @DISEASE$ and non-VHL sporadic tumours indicate an important role of the VHL gene in the development of these @PHENOTYPICFEATURE$.	false
+9a5438c03ca2fd212b5565e499d2ce7d6f734c99	In addition, a potential role of @DISEASE$ in the @PHENOTYPICFEATURE$ microenvironment, which carries heterozygous VHL mutations in VHL patients, has been overlooked.	false
+a6812edf2bcd60dcb693d86548953a99f5149e49	In addition, a potential role of VHL in the @PHENOTYPICFEATURE$ microenvironment, which carries heterozygous @DISEASE$ mutations in VHL patients, has been overlooked.	false
+d3c4e78529ee962350ffe76823249b8d6e87add1	In addition, a potential role of VHL in the @PHENOTYPICFEATURE$ microenvironment, which carries heterozygous VHL mutations in @DISEASE$ patients, has been overlooked.	false
+3fda0db50198f7aa940aa0cc19df00908624bfa4	Somatic inactivation of the @DISEASE$ gene in Von Hippel-Lindau disease @PHENOTYPICFEATURE$.	false
+634c7f5b76960b47a6be3ed65e0009855c08f845	Somatic inactivation of the VHL gene in @DISEASE$ @PHENOTYPICFEATURE$.	false
+0dd431d710f7bf3a97b04596d886b360a6862a04	Dizziness and @PHENOTYPICFEATURE$ revealing the @DISEASE$.	false
+b7d90d7c7e70950a28fe84bb0b630dff91d01651	[A case of @DISEASE$ associated with hyperthyroidism and @PHENOTYPICFEATURE$].	false
+a39643cf75929e19b9240e390af67f023af3c0ae	@DISEASE$, as with other short stature/@PHENOTYPICFEATURE$ skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified.	false
+dd32d3b64a425b38eb61caebd4164b6da1282886	While immune deficiency occurs in other short stature/@PHENOTYPICFEATURE$ skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with @DISEASE$.	false
+6cd3326998d848126872811456ef017099d8f9e3	To compare the @DISEASE$ with objective neurophysiological tests of @PHENOTYPICFEATURE$.	false
+eea2d8e2402194dff3eb67102f81f64b272c1fdd	@PHENOTYPICFEATURE$ was assessed with the Modified Ashworth Scale (@DISEASE$).	false
+9dd2e032454c709ed4858c16bec402246e1c7935	ESWT effectively reduced @PHENOTYPICFEATURE$ levels measured with @DISEASE$ regardless of patient group.	false
+4dd23d2ca01e1f8c5dae55e830a979a2ada61cf6	The change in arm @PHENOTYPICFEATURE$ was assessed using the modified Ashworth scale (@DISEASE$).	false
+308638fa1c4a63c3a7bd64e7781356936f655059	The measurement of @PHENOTYPICFEATURE$ was evaluated with the Modified Ashworth Scale (@DISEASE$).	false
+44d57805bad07b1945b6715d402b69df48779009	@DISEASE$ and surface electromyography (sEMG) showed better improvement of @PHENOTYPICFEATURE$ in the treatment group.	false
+9d275bb2f0678a675a31b357bfb7144c7098e21e	Patients with shoulder pain and significant @PHENOTYPICFEATURE$ (@DISEASE$ 2) were excluded.	false
+5972995f1b980023efbee4956e27e58a9d089ab9	This suggests that the @DISEASE$ measures muscle hypertonia rather than @PHENOTYPICFEATURE$.	false
+6a8004fa817b7f496bb153f5ae2bac9fe162b889	the @DISEASE$ is not a valid ordinal level measure of RPM or @PHENOTYPICFEATURE$.	false
+dc931ac304f8e6ea51ff3978b2d3eaf18e191c13	The purpose of this study is to compare @DISEASE$ with electrophysiological indices of @PHENOTYPICFEATURE$.	false
+90641a7ec959b40a252c9e31f20fed78056f9044	Pheochromocytoma may present as panic attacks, pre-eclampsia, cardiomyopathy, infection with fever and leucocytosis, diabetes, migraine, shock, @DISEASE$, multiple organ failure with lactic acidosis, neurological manifestations, transitory electrocardiogram abnormalities, constipation, intestinal obstruction, @PHENOTYPICFEATURE$, convulsions, etc.	false
+a572cbb1f81d4aa320871aa85383e6846544a03d	Serious adverse events, including intracranial hemorrhage, @PHENOTYPICFEATURE$, @DISEASE$, infection, weight gain, and hypertension, may deter the use of ACTH.	false
+619fa1a2622d3772f5ddbd6e3184ac422a32c064	A 38-year-old woman complained of headache, @PHENOTYPICFEATURE$, and diabetes insipidus for 18 months prior to rapid onset of @DISEASE$ and amenorrhea.	false
+26ba1e844a18eadce1cff2a671046efcd48e806f	At the time of the discovery of recurrence or metastases, 5 patients presented with lung metastases found on chest x-rays, 3 had recurrent @DISEASE$ or hypertension, 3 had abdominal pain, 1 had @PHENOTYPICFEATURE$, and 1 was asymptomatic.	false
+956f8dd4589db87c5d0262ab4ef3f29124f34ccf	Ectopic @DISEASE$ and Cushing's due to @PHENOTYPICFEATURE$ confer the highest mortality risk among Cushing's etiologies.	false
+ee699686d9dd2777755bc16c746aa5e7b45a401c	Adults with @DISEASE$ frequently develop @PHENOTYPICFEATURE$, memory impairment, and depression, with partial to complete resolution after cure.	false
+ad168e292521390abc6b801830ff63b7bd62a3a8	We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne, Turkey with @PHENOTYPICFEATURE$ and myelination delay that might be due to iatrogenic @DISEASE$ caused by topical corticosteroid use.	false
+16eabbe5574465eeca9e5c44424029707a89bda0	Reversible @PHENOTYPICFEATURE$ and cognitive impairment in an adolescent Japanese patient with primary adrenal @DISEASE$.	false
+c930ce2ca47f2148b4f060e15494413e05efbd41	Adverse events were mostly osteopenia/osteoporosis (41.9%), hyperlipoproteinemia (41.9%), @PHENOTYPICFEATURE$ (32.3%) and @DISEASE$ (32.3%).	false
+7e3f4f0d509af784a705079de883825a97987419	Herein, we present an infant boy who developed @DISEASE$ after receiving dexamethasone-containing eye drops after bilateral @PHENOTYPICFEATURE$ extraction to prevent postoperative inflammatory complications.	false
+7560b4c9ee46bf6e0270cfd4989efc979e12f31c	Here, we report theclinical, biochemical, and molecular findings in a child with @DISEASE$ who presented with acute hyperammonemic @PHENOTYPICFEATURE$.	false
+954aeac79b777ea667f6984bf1a4f5ea1cf26bd1	We present the case of an adult patient with partial @DISEASE$ who presented with @PHENOTYPICFEATURE$, coma, and seizures, accompanied by hyperammonemia and treated acutely with hemodialysis.	false
+6d3f98a12a499be21355668ecc6c54b384817776	The @DISEASE$ (OTCD), arginase deficiency (ARD), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (H.H.H) syndrome and Lysinuric protein intolerance (LPI) are characterized by the accumulation of the precursors of urea, principally ammonia because of the @PHENOTYPICFEATURE$ of ornithine, arginine and lysine which are the dibasic amino acid.	false
+a2f7d9d497b01de30d76f8921284bc9209f0319c	The ornithine transcarbamylase deficiency (@DISEASE$), arginase deficiency (ARD), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (H.H.H) syndrome and Lysinuric protein intolerance (LPI) are characterized by the accumulation of the precursors of urea, principally ammonia because of the @PHENOTYPICFEATURE$ of ornithine, arginine and lysine which are the dibasic amino acid.	false
+0eccda18046122586c4bb01085cdecf136a395f6	Fatal neurogenic @PHENOTYPICFEATURE$ in a patient with progressive @DISEASE$.	false
+1b8e4510ac4efa4e948a7491a77f87f8d91ae7b1	Cortical @PHENOTYPICFEATURE$ rarely occur in @DISEASE$ (MS).	false
+08adb306f8a34b22c693bedba3b6759278047e60	This chapter aims to review clinical and prognostic application of HRV analysis in diabetes, stroke, @DISEASE$, @PHENOTYPICFEATURE$, Parkinson's disease and epilepsy.	false
+376f5b1fd923c9eba3ecf422e710f92daa8c3141	Neurogenic bladder is a common feature in many neurological disorders such as stroke, @DISEASE$, @PHENOTYPICFEATURE$, Parkinson disease, peripheral neuropathy.	false
+5069b0f1a7429e870416c5912c81b7feb96fe098	[Acute @DISEASE$, left ventricular failure and @PHENOTYPICFEATURE$].	false
+d1d16acd9a5a1534e2b6204665a3f7527ba42a19	An immunosuppressive effect of oral contraceptives - found in animals with EAE--could be favourable in respect to the disturbed immune mechanism of patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+345cbfc7809cbdb68ffd5b057bcce30c146cbea5	Flash @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7979e947993f64ba9e1e933cc573783eec04143f	The authors describe a new approach for the management of adductor muscle spasm associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8c0931f6f2720d0f205f5a029dafa147bf180711	@DISEASE$ is associated with @PHENOTYPICFEATURE$, spasms, pain, and tremor.	false
+03803b4ef18509d97d5a7eb60002631be87ff260	Late onset @PHENOTYPICFEATURE$ in @DISEASE$: a case report.	false
+66083c7e027b13e2224184fa56314acc32c185b8	@DISEASE$, a rare insidious immune-mediated disorder, features @PHENOTYPICFEATURE$ and atrophy, as well as areflexia, due to nerve conduction block and is often associated with the presence of anti-GM1 antibody.	false
+0bb92e8522a6920b6350383bac068b220adc31be	We also investigated its anti-cancer effects on transplanted melanoma @DISEASE$9 @PHENOTYPICFEATURE$ in BALB/c nude mice.	false
+6e7566bf31ed3a1b598cbd9759d01f06de928358	In the present study we show with @DISEASE$ that auditory sensory memory is also shortened in school-age children with @PHENOTYPICFEATURE$ but without the CATCH syndrome.	false
+a9e0a5f997b0594b2da3368bb1dc9ad0b58c6908	The pathology includes primary and secondary tumors (the most frequent secondary tumors being superior sulcus @PHENOTYPICFEATURE$ and metastatic breast carcinoma), radiation plexopathy, trauma, thoracic outlet syndrome, neuralgic amyotrophy, chronic inflammatory demyelinating polyneuropathy (CIDP), and @DISEASE$ (MMN).	false
+cc29177da5d3b049b5034bb09fe1ab30fc7a0ec5	Letters: Fibroblasts from a patient with @DISEASE$ reveal @PHENOTYPICFEATURE$.	false
+5842e40d35fc6405783742735bb07405d77e4a38	@DISEASE$ causes @PHENOTYPICFEATURE$ and death as the result of end-stage organ failure.	false
+af004c77022490d3b9834b8f71e33bf1c0949633	@DISEASE$ or systemic sclerosis (SSc) is an autoimmune disease of the connective tissue, characterized by @PHENOTYPICFEATURE$ and progressive fibrosis of the skin and internal organs.	false
+5ac4047f1236613c56744860075b3a4113541f31	@DISEASE$ renal crisis (SRC) occurs in 5-10% of SSc patients, who may present with an abrupt onset of hypertension, acute renal failure, headaches, fevers, malaise, hypertensive retinopathy, @PHENOTYPICFEATURE$ and pulmonary oedema.	false
+419f9626143bdac05931d674a9c9ebdb8b81688f	@DISEASE$ is a chronic disorder manifested by excessive synthesis and deposition of collagen in skin and connective tissue, @PHENOTYPICFEATURE$, and autoimmunity.	false
+abb9e3449aad49105ece22599c7b66db8c2c9941	@DISEASE$ is a multisystem disorder characterized by skin thickening and @PHENOTYPICFEATURE$.	false
+64368aa3c75a6474039dae53b06c677de5d3b363	Close clinical follow-up and laboratory testing revealed previously unrecognized hypoglycemia, hypophosphatemia, combined hyperlipidemia, and @PHENOTYPICFEATURE$, along with the characteristic urinary metabolites, including massive @DISEASE$.	false
+b59820742b1101e180a1e601dd1545ab341a512e	[Tetanic @PHENOTYPICFEATURE$ in a male infant due to maternal @DISEASE$ and a follow-up of the anticipated development of hypocalcemia in his sister].	false
+e85dcf56a6aaa8c2e1255d3f1cc150331644810b	@DISEASE$ is able to determine suddenly after a very poor clinical history a deep @PHENOTYPICFEATURE$ : in such a condition, the diagnosis with the paraneoplastic hypercalcemia may be a difficult one : cervicotomy can be the hero?c way to lead to diagnosis and in the same time to perform treatment.	false
+375cc392fd915ebd33b964a05547efed6fc861b6	Fahr's syndrome with @DISEASE$ revealed by @PHENOTYPICFEATURE$ and proximal weakness.	false
+3abf9f7c1203d2a5b01f79349afcb5a8dca1f9cd	Biochemical evidence for hypoparathyroidism and roentgenographic evidence for @DISEASE$ were present in a 7-year-old girl with @PHENOTYPICFEATURE$ and tetany.	false
+c4f19cf8c907cc4da28dc8b9b8640ab90fc7aee1	Other conditions, such as gout, @PHENOTYPICFEATURE$, diabetes mellitus, @DISEASE$ and local trauma, have also been associated with penile ossification.	false
+153338eaabfc78c6085489d816c3959e80de4b60	The term @DISEASE$ (MWS) describes an autosomal dominant disorder characterised by various combinations of urticaria, sensorineural deafness, amyloidosis, arthralgia and @PHENOTYPICFEATURE$.	false
+09ed8d57bd6f0d4cb94a43e359f4d2edb5779683	Genetic loci for two novel hereditary diseases of the nervous system, such as X-linked @DISEASE$ and an atypical form of autosomal recessive @PHENOTYPICFEATURE$ are characterized.	false
+f4f544d7e120adb500e4cd749798382bbfcb9175	Other forms of systemic contact dermatitis include dermatitis at sites of previous exposure to the allergen such as at a previous site of dermatitis or at sites of previous positive patch tests, dyshidrotic hand @DISEASE$, flexural dermatitis, exanthematous rash, erythroderma, and @PHENOTYPICFEATURE$-like lesions.	false
+962ffaf4fdb40257de9e415f55d2d7329bcac120	Condition of microcephaly, growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?	false
+82e481e5c6315c166155cf65d88078ad41651cc3	@DISEASE$ interstitial nephritis following PPI treatment is an important differential diagnosis of @PHENOTYPICFEATURE$ of unknown cause and has a good prognosis when promptly diagnosed and treated.	false
+ed0df1724dc89f80dfb1959e3301bd3308fddecc	Increased plasma @PHENOTYPICFEATURE$ necrosis factor-alpha concentration in @DISEASE$.	false
+a49a09f74fbea71dc83a8da5832f91d8450592c0	A new syndrome of @PHENOTYPICFEATURE$, @DISEASE$ and hypogammaglobulinaemia.	false
+840f033b936a1ca460a319f5e271c2691337d1f2	Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, @PHENOTYPICFEATURE$, @DISEASE$, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds.	false
+283673abab70fc36f8292fe2bdbb55ff4229a54d	@DISEASE$ interstitial nephritis from NSAIDs may occur at any time during therapy with the drugs and may present as @PHENOTYPICFEATURE$ with or without the nephrotic syndrome.	false
+1bf452aae67655b3e1c20332bfcefee9bc1844f6	Physical examination revealed proximal muscle weakness, @PHENOTYPICFEATURE$ in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular @DISEASE$ in both siblings.	false
+edbccc540a8ff3ae1bcc5242e6b347b09494c465	Whole exome and confirmatory Sanger sequencing uncovered homozygosity for a SRDA3 deletion (p.Gln96delinsX) that was previously reported in two other Baluchi SRDA3-CDG families with ocular coloboma, optic atrophy, @DISEASE$, @PHENOTYPICFEATURE$, and developmental disability.	false
+937415eeef39eba68871379f052ef85b998e4ead	They include soft fibromas, acanthosis nigricans, striae, xerosis, keratosis pilaris, @PHENOTYPICFEATURE$, fungal and bacterial skin infections, granuloma annulare, necrobiosis lipoidica, psoriasis, and @DISEASE$.	false
+7bc7fe059a0a5e88b59fd4d8cce925e8b1d11cf6	Intracranial @PHENOTYPICFEATURE$ in patients with @DISEASE$ presenting with neurologic symptoms are not rare, with cerebral vasculitis seen in 7.8% of patients, and stroke secondary to large-vessel occlusion, in 3.9% of patients.	false
+9b36023a407784291ef38c79e02f3874a3c131d0	A 31-year-old female patient with @DISEASE$ and @PHENOTYPICFEATURE$ is presented.	false
+ba749cc85845ad06224f848bd7fad7ec1f3d474e	A 63-year-old woman with a history of @DISEASE$ was admitted to our hospital with a history of progressive dizziness, frequent @PHENOTYPICFEATURE$ attacks, and repetitive blurred vision in the left eye.	false
+beb85973e33c7fca31cda6e43dfb92d2532ae3b6	Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare @DISEASE$ syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, @PHENOTYPICFEATURE$ and micro-retrognatia.	false
+49e80726df2fc5cc6c3347bab6753a9108a86d7b	The article reports on the ultrasonographic criteria in a complex malformation syndrome (@PHENOTYPICFEATURE$, evisceration and @DISEASE$ of the lower extremities).	false
+65aaab63842b42924ff5b125d99cd93e96f769d8	We report a case of a 12-year-old boy with previously shunted @DISEASE$, presenting with a progressive headache, nausea, @PHENOTYPICFEATURE$, and lethargy.	false
+608e4892ffc90b412acd25103f2a97a3f73292f8	First, the main birth defects were congenital heart disease, total harelip(cleft lip; cleft lip with palate), @PHENOTYPICFEATURE$, neural tube defects, @DISEASE$ and limb reduction defect in turn.	false
+e38f9aba50960ba84f98c5ef1af6cd0d539c11bb	The most common birth defects were multiple congenital anomalies, congenital malformations of the tongue, mouth, and pharynx (ankyloglossia), cleft palate with cleft lip, Down Syndrome, congenital deformities of the feet (talipes equinovarus), anencephaly, other congenital malformations of the face and neck, congenital malformations of the musculoskeletal system (diaphragmatic hernia, gastroschisis), hypospadias, @DISEASE$, @PHENOTYPICFEATURE$, syndactyly, and cleft lip.	false
+86ad6e3bfa490529e5ed1333a5c8b4da9b6d2207	The commonest abnormality was a focal ring or disc enhancing lesion in 66 patients (62.3%) followed by calcification (18 patients; 16.9%), @PHENOTYPICFEATURE$ (9; 8.5%), vascular lesions (7; 6.6%), tumours (4; 3.8%) and @DISEASE$ (2; 1.9%).	false
+1cff4648d800e1144e12329090d5be271f876b59	The top six defect diseases were congenital heart disease (112 cases), total harelip (cleft lip; cleft lip with palate: 85 cases), @PHENOTYPICFEATURE$ (53 cases), neural tube defects (38 cases), @DISEASE$ (37 cases) and limb reduction defect (27 cases) in turn, which amounts to 353 cases (54.48%, 353/648).	false
+f86acf0a0027c5b77ecc02f515d1bb767caf9a01	[@DISEASE$, oligophrenia, dwarfism, centripetal obesity and @PHENOTYPICFEATURE$; an X-linked recessive hereditary illness?].	false
+2f951b766db86493282e16f895d4966141abdc11	Of 83 888 perinatals, 374 (4.46?) suffered from congenital heart diseases (CHD), 77 (0.92?) from @DISEASE$, 32 (0.38?) from intestinal atresia/stenosis, 36 (0.43?) from anorectal malformations, 149 (1.78?) from kidney malformations, 139 (3.31?) from hypospadias (male), 178 (2.12?) from orofacial clefts (OFC), 188 (2.24?) from @PHENOTYPICFEATURE$, 62 (0.74?) from syndactyly, and 269 (3.21?) from accessory auricle anomaly.	false
+eba87bfd615a5bbcb1779412ec44df16e7439df5	Same statistical significance (p<0.001) was also found (twins compared to singletons) in following birth defects or their groups: (Q00-Q07) nervous system, Q20-Q28) circulatory system, (Q38-Q45) digestive system, (Q60-Q64) urinary system, @DISEASE$, some congenital heart defects, cleft lip and/or palateoesophageal atresia, anorectal malformation, hypospadia, congenital hydronefrosis, @PHENOTYPICFEATURE$ and syndactyly.	false
+094fa45d2a23a0dacb5f3b3c8b0148e081d355f9	@PHENOTYPICFEATURE$ and their significance in @DISEASE$.	false
+413f53944b1ebcecd1d2e94ef6b2ebf3ca08b1e0	Mutations in L1CAMs can cause the neurological @DISEASE$ and are associated with @PHENOTYPICFEATURE$ and neuropsychiatric disorders.	false
+b97a53bf88e22c9d3fe92a0fd0618d13a868c2a7	Adult polyglucosan body disease (@DISEASE$) is a rare condition characterized by neuropathy, dementia, @PHENOTYPICFEATURE$ and neurogenic bladder.	false
+10980e736af8f113b39f7aad04cfc4cdd625d30e	The proband is a white male who has spina bifida, shunted hydrocephalus, cleft palate, short stature, @PHENOTYPICFEATURE$, and the typical craniofacial features of velo-cardio-@DISEASE$ (VCFS), including low-set and dysplastic ears, broad base of the nose, narrow alae nasi, and retrognathia.	false
+015eb49a619567085007c586982265b1ed5f382d	Congenital @PHENOTYPICFEATURE$ lanuginosa and @DISEASE$.	false
+51e336a0747df5d8fbd382cb98f78a127d27f312	This report highlights a case of syndromic craniosynostosis with advanced corneal decompensation and @PHENOTYPICFEATURE$ that was masked and ultimately delayed the diagnosis of @DISEASE$.	false
+9decf98e81f99d004d0d1e8d3a32edd355745212	We report the first described association of natal teeth with congenital hydrocephalus and @DISEASE$, @PHENOTYPICFEATURE$ with non-attachment of the retina.	false
+3daa4a3f8eeb6613d62dc13cf7287608997d6928	Diagnoses included aphakic glaucoma, @DISEASE$, juvenile chronic arthritis, aniridia, @PHENOTYPICFEATURE$, and Sturge-Weber syndrome.	false
+c7e140e8667e959e4ca0e3900fb77a5dfa7b2b53	@DISEASE$ caused by @PHENOTYPICFEATURE$ was confirmed for the right eye.	false
+50caabfc919acaa8314fdf7e2e67bef85537bc11	@DISEASE$ is a well-recognized entity that can occur in the presence of @PHENOTYPICFEATURE$.	false
+413caff89982a3630669ea44c08c34579a4349c9	Our results suggest @DISEASE$ and the @PHENOTYPICFEATURE$ disorders may share a common molecular pathophysiology in the CYP1B1 pathway.	false
+5c310e8ee1c411ebd75cfb4a89d10aec8be6da57	To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of @PHENOTYPICFEATURE$ or @DISEASE$.	false
+095c67dcd32a59c7392531339cf6ce0519558b4e	An infant with congenital @PHENOTYPICFEATURE$ lanuginosa (CHL) and @DISEASE$ is presented.	false
+3180d4cfdd0d89d141e0348fb1bf632f58c7cf3e	@PHENOTYPICFEATURE$ and @DISEASE$ associated with partial trisomy of chromosome 1 (1q32-qter).	false
+98971d079453114a5379fbac2541fb3e18b6c870	These findings suggest that edema, rather than hyperactivity in the sorbitol pathway, is responsible for the pathological changes in @DISEASE$ neuropathy and that ischemia resulting from @PHENOTYPICFEATURE$ and increased endoneurial fluid pressure is the mechanism responsible for fiber injury.	false
+96cf616466bc91e812a29988b95738eafe6cea87	These findings suggest that @PHENOTYPICFEATURE$, rather than hyperactivity in the sorbitol pathway, is responsible for the pathological changes in @DISEASE$ neuropathy and that ischemia resulting from edema and increased endoneurial fluid pressure is the mechanism responsible for fiber injury.	false
+98dfb92bd0f77503776b6c98d2b4e2e277c45ff9	We report a five-day-old male infant with NH and associated Duarte variant @DISEASE$, renal tubulopathy and @PHENOTYPICFEATURE$, who was successfully treated with combination medical treatment.	false
+e65c91dd09b27f5b7cb7c9b9caf9b12f0ea03916	@DISEASE$ (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound @PHENOTYPICFEATURE$ and specific brain abnormalities.	false
+bcdddcabfb3cd0288f3ac7480ef08f6aa02c5b6e	Brothers with @DISEASE$: @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and other structural brain abnormalities.	false
+fa863b4fc3746e05ad4023df25f363a183604f2c	@DISEASE$ (CMS) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement.	false
+1593b295509642ac2072eecf2e978d512ca0e6d6	@DISEASE$ is an autosomal recessive condition characterized by profound @PHENOTYPICFEATURE$, hydrocephalus secondary to obstruction of the foramen of Monro, and other structural abnormalities of the brain.	false
+7dee9d49467987547a33c71f6b5aa02cc0ed4ddc	Macrocrania together with @PHENOTYPICFEATURE$, colpocephaly, and posterior or complete agenesis of the corpus callosum can be considered the hallmarks of the autosomal recessive @DISEASE$.	false
+8078455a7815557b040a85ca4a358efb45931fb3	Autosomal-recessive inheritance, severe to profound @PHENOTYPICFEATURE$, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established @DISEASE$ (CMS).	false
+3ebb4da8397a076ea0285bf13985c1b318efea39	We review the findings in the two patients we describe, four children reported in the literature and two patients reported by Hendriks et al. [1999: Am J Med Genet 86:183-186] with @PHENOTYPICFEATURE$, corpus callosum agenesis, and interhemispheric cysts, who may well have @DISEASE$.	false
+f225304a0d5b710c592b4a8441faf1cdc75f6823	@PHENOTYPICFEATURE$, hydrocephalus and structural brain abnormalities in two sisters: the @DISEASE$.	false
+3625bd84fea149d969cede6b3d202fb07c6f7a3c	Macular degeneration, glaucoma and high @DISEASE$, on the other hand are increasingly responsible for @PHENOTYPICFEATURE$ in Germany.	false
+55b94b3b887537e78eb6f55e4ad02efa59aad937	@PHENOTYPICFEATURE$, glaucoma and high @DISEASE$, on the other hand are increasingly responsible for blindness in Germany.	false
+05cdb7dc04403beeb5bd680c5bf2de7adfc5bc99	Macular degeneration (15.4%) has the highest prevalence rate followed by glaucoma (14.3%), retinopathia pigmentosa (10.3%), high @DISEASE$ (11.5%) and @PHENOTYPICFEATURE$ (8%).	false
+62c500b54dd1bd2b1715b0eb72319ff810cf913c	@PHENOTYPICFEATURE$ (15.4%) has the highest prevalence rate followed by glaucoma (14.3%), retinopathia pigmentosa (10.3%), high @DISEASE$ (11.5%) and optic atrophy (8%).	false
+9bd659eeb789036d6de5bf48f5d3d061043d8f5b	RNFL parameters were no statistically significant differences between high @DISEASE$ @PHENOTYPICFEATURE$ and simple high myopia (t = 0.872, 0.297, 0.658; P > 0.05).	false
+7727a5ac3bd5e1528b12ece91b89e9c0a9d4b09c	RNFL parameters were no statistically significant differences between high myopia @PHENOTYPICFEATURE$ and simple high @DISEASE$ (t = 0.872, 0.297, 0.658; P > 0.05).	false
+4a43b6e48e12da765f2b780fe8d64355a086b11a	The relative RNFL thickness of high @DISEASE$ @PHENOTYPICFEATURE$ was compared with fellow eyes, normal eyes and high myopia respectively and statistics analysis.	false
+89d745b3c90a830610a2979248f12572d4c0fa73	The relative RNFL thickness of high myopia @PHENOTYPICFEATURE$ was compared with fellow eyes, normal eyes and high @DISEASE$ respectively and statistics analysis.	false
+4d36b14d6c3c1b1f5416630247f3d5e0186f8606	"Binocular Vision "Dysfunction"; A Primary Factor for @PHENOTYPICFEATURE$; Goodbye Leonard, Thanks; AAPOS Boston; It's OK; Paternal Epigenetics; @DISEASE$.	false
+ff7eb4807df76c9dc30d44916940943f3ff982f5	Along with cataract, macular degeneration, infectious disease, and @PHENOTYPICFEATURE$, @DISEASE$ is one of the most important causes of visual impairment worldwide.	false
+2f2f6aaa7986b6ce844f39ff1e4146727699b7a1	Along with cataract, @PHENOTYPICFEATURE$, infectious disease, and vitamin A deficiency, @DISEASE$ is one of the most important causes of visual impairment worldwide.	false
+3ed7c7a2122269a24224f7ca65f2eb8138c19f6c	We report on a female patient who had acquired total alopecia, @PHENOTYPICFEATURE$, microcephaly, optic atrophy, severe @DISEASE$, and mental retardation.	false
+16adfbed5122de92ced794f770fb43936fc7201e	We report on a female patient who had acquired total alopecia, short stature, microcephaly, @PHENOTYPICFEATURE$, severe @DISEASE$, and mental retardation.	false
+ff7eb4807df76c9dc30d44916940943f3ff982f5	Along with cataract, macular degeneration, infectious disease, and @PHENOTYPICFEATURE$, @DISEASE$ is one of the most important causes of visual impairment worldwide.	false
+2f2f6aaa7986b6ce844f39ff1e4146727699b7a1	Along with cataract, @PHENOTYPICFEATURE$, infectious disease, and vitamin A deficiency, @DISEASE$ is one of the most important causes of visual impairment worldwide.	false
+7435195a0b7aaceebe0bf8c51fa9df187952872d	The five leading causes of @PHENOTYPICFEATURE$, in decreasing frequency, were age-related macular degeneration (ARMD), glaucoma, diabetic retinopathy, @DISEASE$ degeneration, and optic atrophy.	false
+700cf193aae383bf0d0d1f853f2935799a8592e3	The five leading causes of blindness, in decreasing frequency, were age-related macular degeneration (ARMD), glaucoma, diabetic retinopathy, @DISEASE$ degeneration, and @PHENOTYPICFEATURE$.	false
+0e1faccd40c36396c44a4b3e9c9d33b4795b34b5	Some patients have strabismus, @DISEASE$, optic atrophy, and total @PHENOTYPICFEATURE$.	false
+e246101fb001cdeb82d31db7a3d31103339cda4a	Some patients have strabismus, @DISEASE$, @PHENOTYPICFEATURE$, and total blindness.	false
+15b81827255b351086ef377cb0b9be7ced968d0a	@DISEASE$ tumors (leiomyomas) are the most common benign pelvic @PHENOTYPICFEATURE$ in women and are the major indication for hysterectomy.	false
+8c7fddf3e9d33c79293b27e53ad1896e22413f79	Neural fibrolipoma, also known as lipofibromatous @PHENOTYPICFEATURE$ of nerves and @DISEASE$, is a rare subcutaneous benign lesion involving the upper extremity with a marked predilection for median nerve.	false
+958cf160f26e4a94ce64a6224775c6315ac8921a	@PHENOTYPICFEATURE$ and acquired @DISEASE$ in children receiving valproic acid.	false
+ad3a03ce702c4c12cfd4d58751551e21cc61bb1c	This report is the first report which describes the combination of @PHENOTYPICFEATURE$ with @DISEASE$.	false
+fd28e5d20d91e024213ab65c844de69f35cf6ee7	@DISEASE$ (Mullerian structures agenesis in woman) is often associated with other anomalies: kidney and bone anomalies, @PHENOTYPICFEATURE$, ovarian tumors.	false
+975613f0b75865ff2320f2c00c4604ce0079f96e	[Atipical form of @DISEASE$ with @PHENOTYPICFEATURE$ and skeletal abnormalities (MURCS association)].	false
+f5d332e122b454022ae54231910ca12c03a13361	Patients with @DISEASE$ present primary amenorrhea and may have some other anomalies, including @PHENOTYPICFEATURE$, heart defects, skeletal deformities, and genital neoplastic diseases.	false
+fa8ab11c385f46b9323859c8a29256a7966d76cd	Patients with @DISEASE$ present primary amenorrhea and may have some other anomalies, including hearing defects, @PHENOTYPICFEATURE$, skeletal deformities, and genital neoplastic diseases.	false
+722965ccb7f82fe8f2e3d7de9d525cb88a06c722	Seventy-two percentage (83/115) of our patients showed isolated uterovaginal aplasia (@DISEASE$ type I); 32/115 (28%) had other abnormalities including kidney and cardiac defects, skeletal anomalies, and @PHENOTYPICFEATURE$.	false
+9df13f12ab81503ba30f01e815701a931013186c	@DISEASE$ (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of M?llerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and @PHENOTYPICFEATURE$.	false
+9df3c5743b2027ad5af320c74de2d01470e51b6b	The association of extensive facial haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and sternal anomalies, is denominated @DISEASE$ and is frequently complicated by @PHENOTYPICFEATURE$, convulsions or ictus.	false
+fca0c6f15e2d34fe54fc80fac34355514a8b1a8a	We suggest that this represents an overlap between morning glory disk and intracranial @PHENOTYPICFEATURE$, a recognized association, and @DISEASE$ (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye, and sternal abnormalities).	false
+514f5f7a074e92c54d256753a2374933d5fe32f4	This arrangement of lesions is observed in male-lethal X-linked traits, such as incontinentia pigmenti, focal dermal hypoplasia, Conradi-H?nermann-Happle syndrome, oral-facial-digital syndrome type 1 and MIDAS (@PHENOTYPICFEATURE$, dermal aplasia and sclerocornea) syndrome, as well as in various X-linked non-lethal phenotypes, such as hypohidrotic ectodermal dysplasia of Christ-Siemens-Touraine, IFAP (ichthyosis follicularis-alopecia-photophobia) syndrome and @DISEASE$.	false
+c7fd049faa3d4fc3dec2513697c19f02ec809a17	This trait is characterized by symphalangism, @PHENOTYPICFEATURE$, @DISEASE$, clinodactyly, and hypoplasia of the thenar and hypothenar eminences.	false
+50cc8355a0f89145a01c7923bfc4729f92babfb1	@DISEASE$ (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and @PHENOTYPICFEATURE$.	false
+abee761d14076d32ff1ee5697848d02ba029db32	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, short stature with @PHENOTYPICFEATURE$ and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 @DISEASE$ were identified.	false
+eb2c9d306da97c245b96bcc8d4022a538ed2b488	In the short stature group, Coffin-Lowry syndrome (CLS), trichorhinophalangeal syndrome, DYRK1A haploinsufficiency syndrome, @PHENOTYPICFEATURE$ with optic atrophy and Pelger-Hu?t anomaly syndrome with recurrent hepatitis, and type 4 @DISEASE$ were identified.	false
+6881405158a54fa6a60f83f92a44369024b7ea29	Recessive mutations in ORC1, ORC4, ORC6, CDT1 or CDC6 of the preRC in human cause @DISEASE$ (MGS) that is characterized by impaired post-natal growth, @PHENOTYPICFEATURE$ and microcephaly.	false
+d325ed2640a09183e39711945624d3638cca18f0	Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in @DISEASE$ (MGS), a disorder defined by the triad of @PHENOTYPICFEATURE$, microtia, and a/hypoplastic patellae.	false
+7a1dc4e45cd1c161985dfcaa537c4a7b44f8b16d	@DISEASE$ (ear, patella and @PHENOTYPICFEATURE$ syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears???.	false
+4762c6279c74a7393981dc5de95b713af215670c	We have applied linked-read WGS to identify novel causes of @DISEASE$ (MGORS), a condition recognised by @PHENOTYPICFEATURE$, microtia and patella hypo/aplasia.	false
+21ae3435bf94b3d61225a9ad4b55ad6734237f40	This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, @PHENOTYPICFEATURE$ syndrome (@DISEASE$), which is distinguished by the triad of microtia, absent patellae and growth retardation.	false
+5447282cd798446d061297db133bb6130109658c	The @DISEASE$, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by @PHENOTYPICFEATURE$, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae.	false
+9cd2f43d1eaec5e05e6969e65de7deae4cbb5eb7	@DISEASE$ (MGS) is a rare autosomal recessive disorder characterized by the triad of @PHENOTYPICFEATURE$, microtia and absent or small patellae.	false
+7e7607edde95c3a88bb8be9dcd27a42d56411912	@DISEASE$ (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and @PHENOTYPICFEATURE$.	false
+d0c88205fdb425791bba2737fff82e8f23b75c0a	[Identification of a de novo @PHENOTYPICFEATURE$ in a patient without @DISEASE$: clinical and diagnostic implications].	false
+6ec604f1e6d4d7f2f927d53f1f55395fa475192a	Estimates for NF1, NF2, FAP, and @DISEASE$ are in line with previous estimates, and we provide the first estimates of birth incidence and de novo @PHENOTYPICFEATURE$ rate for GS.	false
+1786232e46e759fb9925048610f5a095187e4cea	The proportions due to de novo @PHENOTYPICFEATURE$ were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (@DISEASE$).	false
+cfcffcef4c3f23b31127c5a15c03d4f035027c69	Sporadic @DISEASE$ disease with a de novo germline @PHENOTYPICFEATURE$ is rare.	false
+103c01c305c239371e0853b396d408316f129cb9	Reasons for a missing family history in patients with VHL disease were the presence of a de novo @PHENOTYPICFEATURE$ (15% of VHL patients) or clinical anticipation of VHL disease (18% of @DISEASE$ patients).	false
+d81d9bc0844d4fec98c815c01cf355b64b133fc7	Reasons for a missing family history in patients with @DISEASE$ disease were the presence of a de novo @PHENOTYPICFEATURE$ (15% of VHL patients) or clinical anticipation of VHL disease (18% of VHL patients).	false
+e7e0fef270414a93ad1b8a87109e9f1b48aa0708	Reasons for a missing family history in patients with VHL disease were the presence of a de novo @PHENOTYPICFEATURE$ (15% of VHL patients) or clinical anticipation of @DISEASE$ disease (18% of VHL patients).	false
+6f256fb85deba06c7f4cce984f976658e6b2cd56	Reasons for a missing family history in patients with VHL disease were the presence of a de novo @PHENOTYPICFEATURE$ (15% of @DISEASE$ patients) or clinical anticipation of VHL disease (18% of VHL patients).	false
+811022922b896899939afd5d4d54a2c0b83bd9f3	As there was no family history of @DISEASE$, it was determined to be a de novo @PHENOTYPICFEATURE$.	false
+397a9b52e813d171768b0e9778403b1f96469be8	The presence of multiple retinal angiomas strongly suggests VHL disease, which, however, can be obscured by presence of a de novo @PHENOTYPICFEATURE$ or by clinical anticipation of @DISEASE$ disease in affected families.	false
+576c10ee1a2f346e6d5069e54312be8233f6856e	The presence of multiple retinal angiomas strongly suggests @DISEASE$ disease, which, however, can be obscured by presence of a de novo @PHENOTYPICFEATURE$ or by clinical anticipation of VHL disease in affected families.	false
+dcfc55c4473381c2b1c5402c7065d9ca3cfde229	It is well known that about 25% of @DISEASE$ patients present de novo @PHENOTYPICFEATURE$, and first cases function as possible founders of new VHL kindreds.	false
+20e031c3264a0ed7216f73529d41b75a38f1d5b2	It is well known that about 25% of VHL patients present de novo @PHENOTYPICFEATURE$, and first cases function as possible founders of new @DISEASE$ kindreds.	false
+03fa4ee50cc8f676c65687957e21fa19a597668b	We describe a Sicilian girl with type 2C VHL who showed the apparently de novo @PHENOTYPICFEATURE$ R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in @DISEASE$.	false
+e49c68b5ed8f383c26985848cee603aad3c4fc23	We describe a Sicilian girl with type 2C @DISEASE$ who showed the apparently de novo @PHENOTYPICFEATURE$ R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL.	false
+a2b0410d9dc88b1e1fb31e7ba47810ad57bc8b84	We suggest that this mutation possibly has reduced penetrance as there was no history of haemangioblastoma, renal tumours (apart from small cysts) or other VHL tumours among five @PHENOTYPICFEATURE$ positive and seven untested adult relatives at 50 % risk of the @DISEASE$ mutation (average age 46 years, range 18-70 years).	false
+a24d05afcc6d3d8b753a6d3d22ff580e6c944fac	We suggest that this mutation possibly has reduced penetrance as there was no history of haemangioblastoma, renal tumours (apart from small cysts) or other @DISEASE$ tumours among five @PHENOTYPICFEATURE$ positive and seven untested adult relatives at 50 % risk of the VHL mutation (average age 46 years, range 18-70 years).	false
+5ffe2c647652d5887eff75a89b621851cd30f794	@DISEASE$ (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, @PHENOTYPICFEATURE$, developmental delay, and intellectual disability of variable level.	false
+3b76a9b3674544a5945b821338f86a147dea8344	A new case of megalencephaly and perisylvian polymicrogyria with post-axial @PHENOTYPICFEATURE$ and hydrocephalus: @DISEASE$.	false
+8aa4e1e6e87116b7901f0b56057c003ebf83c8eb	We report a new case of megalencephaly and polymicrogyria with post-axial @PHENOTYPICFEATURE$ and hydrocephalus (@DISEASE$) in an 18-month-old girl.	false
+5997a685eee36ea2843d15d82985b975075c5e98	Cases were those mothers who had one or more risk factors present during pregnancy (namely, @PHENOTYPICFEATURE$, malpresentation, antepartum haemorrhage, @DISEASE$/eclampsia, anaemia-haemoglobin less than 10 g/dl, twins, bad obstetric history, prolonged pregnancy, history of previous caesarean section and instrumental delivery, pregnancy associated with general diseases, prolonged difficult labour and RH-iso-immunisation). Controls were those mothers who did not have any of the above mentioned risk factors.	false
+87d5447c9834ca7b299c90f31466b806d8d92724	They are typified by the development of medullary thyroid cancer (MTC), @DISEASE$ and parathyroid hyperplasia in MEN2A and MTC, phaeochromocytomas, ganglioneuromatosis and @PHENOTYPICFEATURE$ in MEN2B.	false
+48b30ea79165e35a7df7efab14720dc7156f6ce3	@DISEASE$ mimicking @PHENOTYPICFEATURE$.	false
+6b5d5237ee2fa3351b93f70bb54979fa8ee97fde	To date in this family the E768D mutation has not been associated with either @DISEASE$ or @PHENOTYPICFEATURE$.	false
+cf56ceb9271b0a4721c227f4bf874ac9eaa7bdb7	@DISEASE$ was suspected on the basis of cytology and was associated with @PHENOTYPICFEATURE$.	false
+46dc2aac97e320cf2f461bddd2c18bde38448c13	The prevalence of @DISEASE$ and @PHENOTYPICFEATURE$ was significantly higher in families with a mutation of cysteine 634.	false
+e3871c1ca1ae4406feca7868756e4f906546a448	@PHENOTYPICFEATURE$ episodes and circadian fluctuations of blood pressure in patients with @DISEASE$: studies by long-term blood pressure monitoring based on a volume-oscillometric method.	false
+763a5aed311b13b0eb861b19c31572708e19066f	Vanessa also presents with a MTC but without either @DISEASE$ nor @PHENOTYPICFEATURE$.	false
+33c0bb1a81f059bb35f75131bc2a19e723f4bf40	The hypertensive group consisted of 48 patients with essential @PHENOTYPICFEATURE$, nine with renovascular hypertension and five with @DISEASE$.	false
+6c671c4069cbdf549f79b34ffe498bb08eb8a258	Medical treatment is unsatisfactory in most cases unless the patients have such treatable associated systemic diseases as myxoedema, @PHENOTYPICFEATURE$ or @DISEASE$.	false
+9c3bcb0115788b50c4dc4783c2d87fc4b960a94b	Using a sensitive radioimmunoassay established in our laboratory, plasma CGRP levels were evaluated in control subjects and in patients with essential @PHENOTYPICFEATURE$, @DISEASE$ or primary aldosteronism.	false
+39238acc72bd0664ec6da8b9f53405e9f4f46d2d	Congenital @PHENOTYPICFEATURE$ in association with ichthyosis and @DISEASE$.	false
+2dce1956a22bb86a30f8bdebd2100db6318e443c	@DISEASE$ associated with @PHENOTYPICFEATURE$ and microcephaly.	false
+0de3045484f81e1db990f6e25e35616f9ef23612	Clarifying the relation between LCA and associated neurological abnormalities such as autism, @PHENOTYPICFEATURE$, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, @DISEASE$ and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+c05edb3aa3310abd334b949078894a0d977a922c	Some children present with extrarenal symptoms: tapetoretinal degeneration (@DISEASE$), @PHENOTYPICFEATURE$, cerebellar ataxia, bone anomalies or liver involvement.	false
+997cbcadbf3b80430c2670da0d4eac98c3ddb0c8	Fraser syndrome (cryptophthalmos [@DISEASE$ eye]-@PHENOTYPICFEATURE$ syndrome).	false
+0ee179e9da785fcea407bb37fb52d2e67df13c70	In the spine, odontoid apophysis aplasia was found with no ossification nucleus, vertebrae with central hump, disk protrusions, hypertrophy of the posterior common vertebral ligament, and @DISEASE$ @PHENOTYPICFEATURE$ at the S4 level.	false
+96327d58dea885db5c061c90585bf5ca9b548fba	Three types of transplantation can be proposed: single lung transplant for fibrosis and dry emphysema; bilateral lung transplant for cystic fibrosis, and certain types of emphysema and pulmonary @PHENOTYPICFEATURE$; heart-lung transplant for pulmonary hypertension and @DISEASE$.	false
+39750c233c0abec9a4e24c7e94712221088b60b1	We studied 5 consecutive patients (4 with primary pulmonary @PHENOTYPICFEATURE$, 1 with @DISEASE$; New York Heart Association class II to III).	false
+f29de38e0c9f48ae07ec9f1d0de627e195cfa59b	Patients with @DISEASE$, pulmonary @PHENOTYPICFEATURE$, should be advised to avoid pregnancy.	false
+b558a89037fdffaea5e23b7c7af7464a720d171c	To determine whether inhaled NO (iNO) can reduce pulmonary vascular resistance in adults with congenital heart disease and obstructive pulmonary @PHENOTYPICFEATURE$ or @DISEASE$.	false
+1235ecfae74e22703fb3df083286e52819d24cd8	@DISEASE$ and @PHENOTYPICFEATURE$ were present in 8 per cent and 4 per cent of the ninety-one subjects with Down syndrome.	false
+a3e93b49f6d3b1e474a0911080e92c6028ff4156	We report on an infant girl with hydrops, @PHENOTYPICFEATURE$, high forehead, flat face, hypertelorism, broad nasal bridge, median @DISEASE$ ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts.	false
+0861d4148d02925739f319b18a31b04d7ce3f9cd	The Authors report a case of @DISEASE$ type II (Mohr syndrome); three cephalometric tracings and a clinical study were carried out, in order to evaluate the oro-@PHENOTYPICFEATURE$.	false
+d926e2d166872ffe166784227a9d2d993f5001a7	@DISEASE$ (OFD) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+a494e43dc6e01afc9e8dc3177b0a8d459da85d95	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+bbccae0019d0077f163550cea24595708e1d0701	The oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral @PHENOTYPICFEATURE$ dysmorphism, and hand/feet malformations.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+d9e90feefca7b43c70c49bb38ecbc4e5fdadf0b2	@DISEASE$ and @PHENOTYPICFEATURE$ susceptibility.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+89d6104a5070b7ade0eedf33ee65f44aad0091bc	Cerebellar @PHENOTYPICFEATURE$ following @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+f051f81382c56ad952d02e8af95113ea2e7f30bd	This historical review addresses major neurological disorders associated with deficiencies of water-soluble B vitamins: beriberi, @DISEASE$, pellagra, @PHENOTYPICFEATURE$, and subacute combined degeneration of the spinal cord.	false
+cfe61c734c56fe8b08b6b286e402dafff1fed553	Coexisting cytotoxic and vasogenic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cac58885d0e8d8df7dbd2ea5115a9eb46d94fd6e	Diffusion-weighted imaging abnormalities in @DISEASE$: reversible cytotoxic @PHENOTYPICFEATURE$?	false
+33304e66f235fa940de5cceda97f8a4b129c6560	Following the acute WE phase and resolution of @PHENOTYPICFEATURE$ and inflammation of affected brain tissue, WE, if not adequately treated with thiamine repletion, can herald @DISEASE$ (KS), with its symptomatic hallmark of global amnesia, that is, the inability to commit newly encountered (episodic) information to memory for later recall or recognition.	false
+1542cd54cf72993604b64f357e32be58deec19a3	Other patients may have retinal hemorrhages, optic disc @PHENOTYPICFEATURE$, and peripheral neuropathy without @DISEASE$.	false
+56f3471f2509294e1a3d844ece2e909f49764daf	[@DISEASE$-amenorrhea syndrome in hypophysial @PHENOTYPICFEATURE$].	false
+4aaa12adb04ce68cb231d6523a5fa1e658aadc5e	Hyperprolactinemia, usually caused by a pituitary lactotroph @PHENOTYPICFEATURE$, leads to @DISEASE$ and infertility.	false
+45f1306c37303e56033f4236fcee44b65a003e9c	Through @PHENOTYPICFEATURE$, prolactin hypersecretion and production leads to the typical functional syndrome which is observed in female children and adolescents; delayed puberty, primary or secondary amenorrhea and/or @DISEASE$.	false
+ff83e432c570ba90945d6de26059253692316bcb	[Amenorrhea-@DISEASE$ and hypophyseal @PHENOTYPICFEATURE$ (Forbes-Albright syndrome).	false
+c18945b3d2ee556882502bf3d0eb7e0ab03c40f2	The @PHENOTYPICFEATURE$ was found in a 32-year-old woman who presented with a short history of amenorrhea and @DISEASE$.	false
+1699d228c12c8e871fb98e6c7a68d6b26ecb85c3	Fifteen patients with hyperprolactinemia, amenorrhea, and @DISEASE$ were studied; 10 of these patients had apparent @PHENOTYPICFEATURE$.	false
+8b63d104916cfe175966e8282c5d630ed371b045	Plasma prolactin levels and galactorrhea were favorably affected by treatment only in a minority of amenorrhea-@DISEASE$ patients with and without @PHENOTYPICFEATURE$.	false
+678fe6481a07eb5bd60f36060c0090bf30bfa7e6	Plasma prolactin levels and @DISEASE$ were favorably affected by treatment only in a minority of amenorrhea-galactorrhea patients with and without @PHENOTYPICFEATURE$.	false
+137930cef3f99b8a385ab08db1527749548969a0	@DISEASE$-amenorrhea syndromes: postpartum galactorrhea-amenorrhea in the absence of intracranial @PHENOTYPICFEATURE$.	false
+159ed2aa75ae9e05bd1d452ff3bdaca5be153887	Vaginal bleeding and @DISEASE$ in a child with ovarian steroid cell @PHENOTYPICFEATURE$.	false
+c5651cd52f156952177824afe0e73f3b6f78876e	Better results are achieved in patients with @DISEASE$-amenorrhea (77.1%) and @PHENOTYPICFEATURE$ (63.3%) than in patients with normal gonadotropin levels (45.4%).	false
+d004f8d8887ae16b34538c0027a51205fa772362	@DISEASE$ is a systemic infection and may involve any @PHENOTYPICFEATURE$ with various clinical signs and symptoms.	false
+e800c4811edb916d545d52f1c7b8deaef4a28dca	Meningitis is the most common form of neuro-@DISEASE$ (NB) but other neurological manifestation, with variable onset, such as severe encephalic involvement, neuropathy, vascular damage, radiculitis and @PHENOTYPICFEATURE$ might happened.	false
+4c8a74e85c11a543136bb8088761bba660992236	The expression of vimentin gene correlates with the expression of transcription factor PEA3. Since the promoters of human and mouse vimentin genes contain one PEA3 binding site we investigated the ability of PEA3 to transactivate the vimentin promoter in mouse mammary epithelial cell CLS1, mouse mammary @PHENOTYPICFEATURE$ @DISEASE$ and human mammary tumor cell lines MCF7 and MDA231.	false
+4702ae3e6d4cd6f370be33aa4611cb1368268831	The expression of vimentin gene correlates with the expression of transcription factor PEA3. Since the promoters of human and mouse vimentin genes contain one PEA3 binding site we investigated the ability of PEA3 to transactivate the vimentin promoter in mouse mammary epithelial cell CLS1, mouse mammary tumor @DISEASE$ and human mammary @PHENOTYPICFEATURE$ cell lines MCF7 and MDA231.	false
+4bb718ceacae2a457f64fe12ea150c71201b575b	Since the prognosis of LC and @DISEASE$ patients who have @PHENOTYPICFEATURE$ invasion of the great vessel is very poor, induction therapy based on preoperatively pathological diagnosis is recommended.	false
+4b0c959fda265c31aa0da684b6130ed7c71567be	Although MIR17HG is expressed in the developing kidney, and patients with @DISEASE$ caused by MYCN mutations have @PHENOTYPICFEATURE$, it remains unclear to what extent MIR17HG contributes to renal development and function.	false
+d8c20ab1cc3c71047320dabf00592768f0b12da4	To report on imatinib mesylate (IM) in patients with metastatic dermatofibrosarcoma protuberans (DFSP)/fibrosarcomatous (@DISEASE$)-DFSP and on the impact of the treatment on @PHENOTYPICFEATURE$ biology.	false
+8b070f83b0b460a15e4a99d21573452b4d7c82b5	Whereas collective invasion of mammary @PHENOTYPICFEATURE$ (@DISEASE$) breast cancer cells into randomly organized collagen networks required matrix metalloproteinase (MMP) activity for cell-derived collagen breakdown, re-alignment and track generation, preformed tracks supported MMP-independent collective invasion down to a track caliber of 3 ?m.	false
+d6bdc392eedb2a9b40c7018f477fc126e682c68e	Multivariate analysis demonstrated that completion of @DISEASE$ and @PHENOTYPICFEATURE$ grade (G1/G2) were related to mortality rate (p < 0.001).	false
+f8bcd25e4e2a80c55dd208cffe04ba64d7fc42a9	We then showed Hsp72 to be upregulated in a fraction of mammary cancer initiating cells (CIC) within the @DISEASE$ @PHENOTYPICFEATURE$ cell population.	false
+e515ba83f26a5f322d6b7bf80ff090fcb480bda4	@DISEASE$ is a @PHENOTYPICFEATURE$ caused by loss-of-function mutations of either MYCN (type 1) or MIR17HG that encodes miR-17-92 microRNAs (type 2).	false
+fa8759337fa61189781c9b4a2a0cda3865bfd72a	Uterine @DISEASE$ @PHENOTYPICFEATURE$ according to WHO diagnostic criteria are not rare.	false
+7546b68fb0599ca69724fac6bbda7130a9665f03	I spy apraxic eyes in @DISEASE$: a false-negative @PHENOTYPICFEATURE$ panel.	false
+a8c42342cea437ee42c6ef178a29d992237f1f34	@DISEASE$ is a familial spinocerebellar @PHENOTYPICFEATURE$ with autosomal dominant inheritance.	false
+c3974b71bbd58a3f9ea88344b15361e530b1518e	Three @DISEASE$ siblings with @PHENOTYPICFEATURE$, parkinsonism, and motor neuronopathy.	false
+a9333b827971f7dafcaabe85d90726c6cc2d3388	Anecdotal reports suggest that patients with spinocerebellar ataxia (@DISEASE$) patients can present with postural tremor with @PHENOTYPICFEATURE$.	false
+dcb687992545ebedeaaff476da76d314c95cce18	Anecdotal reports suggest that patients with spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) patients can present with postural tremor with ataxia.	false
+99f73dded39fa836e3b8bfd4f41a006c871c5ac4	Friedreich's @PHENOTYPICFEATURE$ (FRDA) and spinocerebellar ataxia type 2 (@DISEASE$) are among the most commonly diagnosed hereditary ataxias in Czech Republic.	false
+38220914d48807a42b693fd32544e0aefeace26f	Friedreich's @PHENOTYPICFEATURE$ (FRDA) and @DISEASE$ (SCA 2) are among the most commonly diagnosed hereditary ataxias in Czech Republic.	false
+c1be146c7ca58cb477c24701f053d7221765893f	Quantification of circulating plasma DNA in Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$ and 12.	false
+d46ff90f9a7421992b80950565fc5f2e9dd194e9	@DISEASE$ (SCA2) has been reported as the commonest dominant hereditary @PHENOTYPICFEATURE$ in India.	false
+bb76efd725604cd7c3bfaf000db42c6d2587b89a	We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with @DISEASE$ ataxia with both @PHENOTYPICFEATURE$ and parkinsonian features.	false
+955bcb84ed147c29093dd666efb08f13d7c9fb55	We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with @DISEASE$ @PHENOTYPICFEATURE$ with both ataxic and parkinsonian features.	false
+d9597a0dcadc66f10a1401a6410db4d3311c8137	A clinician should consider the diagnosis of @DISEASE$ when encountering a patient with @PHENOTYPICFEATURE$ and a family history of ALS.	false
+c420962adc6b9d5a1ee4b5a6a5c8bc39539baf76	@DISEASE$ (SCA2) is the second most frequent autosomal dominant inherited @PHENOTYPICFEATURE$ worldwide.	false
+4c321d980cc9899d0fa4ceb056bfcce6f5a531c0	Altogether 83 patients (51 with @DISEASE$ with @PHENOTYPICFEATURE$, 3 with hemifacial spasm, 4 with other diagnoses) were included in this study.	false
+c17b60db96c2aab1aaca6dc66c0ac5d4d723de4d	Mixed connective tissue disease (MCTD) refers to a disease process with combined clinical features characteristic of systemic lupus @PHENOTYPICFEATURE$, scleroderma, and @DISEASE$-dermatomyositis.	false
+a7df3d7b2032f5ff22d3df53d79a49dc375d176c	Hereditary axonal motor and sensory neuropathies or @DISEASE$ (CMT2) are characterized clinically by distal muscle weakness and atrophy, sensory loss, and @PHENOTYPICFEATURE$.	false
+768da184fed2acd2823196e81e3277b532c5be86	@PHENOTYPICFEATURE$ after @DISEASE$.	false
+ed537e34e1fb1192e8a23aca8f7d130bd5c55e9a	However, @PHENOTYPICFEATURE$ introduced cases of @DISEASE$ occurred subsequently probably as a result of transmission from infected mosquito Anopheles flying over river the Punj from the border areas of Afghanistan.	false
+15484bc0297339115d1b1bde022a9f1ec1cdc67b	[Personality disorders, @PHENOTYPICFEATURE$, and malaria in pregnancy; fetal diseases due to @DISEASE$].	false
+2f62b4414c712f242d4cc8c616e652d9d9bcde3c	[Personality disorders, @PHENOTYPICFEATURE$, and @DISEASE$ in pregnancy; fetal diseases due to malaria].	false
+f1b59f152472bd750e822bc93bd8b8cb774be24b	@DISEASE$ is endemic in the municipality of Dibulla whereas in Riohacha it is characterised by @PHENOTYPICFEATURE$ outbreaks.	false
+1d554bf8cfc5b6dc86d9fad0cead3e7f009aad9b	Tropical @PHENOTYPICFEATURE$; @DISEASE$ and solar etiology.	false
+8a9c53ed7810fa9bb06d7b05b4643b2ecd6ed436	The Malaria Score for Adults (MSA) and @PHENOTYPICFEATURE$ Acidosis Malaria (CAM) score have recently been proposed to risk stratify patients with @DISEASE$.	false
+567db8f06b3ca6b6abc6d099f7e2b0da83a15e53	The Malaria Score for Adults (MSA) and @PHENOTYPICFEATURE$ Acidosis @DISEASE$ (CAM) score have recently been proposed to risk stratify patients with malaria.	false
+da6712c75e4ab42f846039dd6601bbf89efdbe04	The @DISEASE$ Score for Adults (MSA) and @PHENOTYPICFEATURE$ Acidosis Malaria (CAM) score have recently been proposed to risk stratify patients with malaria.	false
+9cf375df3934d76596ed059c4cf1f73e1f02c10d	[Pernicious @DISEASE$ @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+3fd203b48930461dedb8f11a94b85c702cd3519f	@DISEASE$ caused by P. falciparum, is endemic in tropical and subtropical areas but is seen as @PHENOTYPICFEATURE$ cases in our country.	false
+eefeeabbae545df6cef0c41974093a983e38885d	Seizures commonly observed in severe @DISEASE$ may not have a causal relationship with poor outcome, but rather be associated with profound @PHENOTYPICFEATURE$ and repeated metabolic insults (multi-hypoglycaemia) that are strongly associated with impaired everyday memory.	false
+004d8ce8841c3fc963d1ce0306e0c741fc12e2ba	@PHENOTYPICFEATURE$ commonly observed in severe @DISEASE$ may not have a causal relationship with poor outcome, but rather be associated with profound coma and repeated metabolic insults (multi-hypoglycaemia) that are strongly associated with impaired everyday memory.	false
+5cbab79aba090e8d1577169ee213c6343e208b8c	NF-kappaB is constitutively activated in many @DISEASE$, including diabetes type 1, @PHENOTYPICFEATURE$, and rheumatoid arthritis (RA).	false
+504f005a901f60d2ca163d0c16bd53b03e0f99c6	Dysregulated expression of CTLA-4 leads to many @DISEASE$, including rheumatoid arthritis, @PHENOTYPICFEATURE$, and type 1 diabetes (T1D).	false
+92191d1d251260f75651a459db916c987a5d1c53	-glycosylation in several @DISEASE$, including multiple sclerosis, @PHENOTYPICFEATURE$, inflammatory bowel disease, and type 1 diabetes mellitus.	false
+da324bbba3d561e19f892b35ffcfd5b7377e22bb	@PHENOTYPICFEATURE$, rhinitis, and several @DISEASE$ were common associated diseases.	false
+b86942f5d265520b18f0f5939da4d7a866b4dd35	These two types of patients frequently develop an @DISEASE$ (multiple sclerosis, @PHENOTYPICFEATURE$, APS).	false
+7747afc12195cf599f9344f4c8b21052b09734c3	A reduction in TNC numbers is associated with a variety of @DISEASE$ including thyroiditis and @PHENOTYPICFEATURE$.	false
+5340a18f6ab55cb23dbfef04dece2659350d4649	However, PDCs are related to the progress and severity of @DISEASE$, such as @PHENOTYPICFEATURE$, because they respond to host DNA.	false
+ec74c6ba287ef13086ad19662535f466309c6e7f	@PHENOTYPICFEATURE$ status may affect the prevalence of major @DISEASE$.	false
+61721719355f0e75ef70b7ab587b70ad6f8b4e51	Endogenous digoxin has been related to the pathogenesis of multiple sclerosis and other @DISEASE$ like @PHENOTYPICFEATURE$ and rheumatoid arthritis.	false
+b5700da7e37bff57ab48863fb493f448f9bfb88d	@PHENOTYPICFEATURE$ with multiple @DISEASE$.	false
+8557e38bfd61b7b42a7fea3780664e6e16791094	Patients with @DISEASE$19 @PHENOTYPICFEATURE$ displayed relatively better OS (median: 45.3 vs 33.3 months, respectively) than those with L858R (31.4 vs 28.9 months, respectively).	false
+3f9d21f9c73f462bdc2e263ade3762be017f1469	@DISEASE$ @PHENOTYPICFEATURE$ dose can be assessed by PET and significantly impacts treatment response in HCC.	false
+c463a4ef615b5f7a7a135adbe8f3a02ad0551312	@DISEASE$ @PHENOTYPICFEATURE$ doses were 40 to 60 Gy in 5 to 7 weeks.	false
+aebc227470c897c246d2b00a02068c94bcd9fef9	An alternative and more physiological approach is to develop vaccines that @DISEASE$ @PHENOTYPICFEATURE$ antigen for in vivo uptake and presentation by the DC.	false
+abe1ca54ae2ddeab42d8a7b9150ceb666af258a4	Adoptive cell therapy using dendritic cells (DCs) is a strategy to @DISEASE$ @PHENOTYPICFEATURE$ antigens in cancer immunotherapy.	false
+61f64a87899e4aa2f86362510ac978fc31bfc910	Progress has been made recently in developing antibody-drug conjugates (ADCs) that can selectively @DISEASE$ cancer drugs to @PHENOTYPICFEATURE$ cells.	false
+fcc232f744527d26f2abb7e389135557a4bd5fd5	The finding that the Dis1@DISEASE$1p @PHENOTYPICFEATURE$ were frequent in MS- but not in MS+ tumors suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+2e5404c6f11f73bfec806565e56bbd1f247ce957	The finding that the Dis1@DISEASE$1p tumors were frequent in MS- but not in MS+ @PHENOTYPICFEATURE$ suggests the limited efficacy of the MS program into reducing mortality from neuroblastoma.	false
+15c7978ab5106c2c6c9cb083dd71deedf31e5063	In real-world clinical practice, sequential afatinib and osimertinib facilitates prolonged, chemotherapy-free treatment in patients with T790M acquired resistance, and is a potentially attractive strategy, especially for @DISEASE$19-positive @PHENOTYPICFEATURE$.	false
+f06e468933916885c23420ec635f96e6b8a2fe49	@DISEASE$ @PHENOTYPICFEATURE$ absorbed doses were derived from these measurements for head and neck, pelvis and breast treatments.	false
+646d2b3d01385eb8cac75eb5139b9e49f86dda3d	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this @PHENOTYPICFEATURE$-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+86e93dec75cd2104cd99482b58e3fb53fb15daad	That a @PHENOTYPICFEATURE$ can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term tumor suppression.	false
+1a050d5c3c32d7d2cc23ef73b370c3a19832b425	That a tumor can limit its own growth raises the prospect that chronic therapies aimed at suppressing this tumor-host dynamic may compare favorably to current strategies which often yield favorable short-term responses but fail to @DISEASE$ long-term @PHENOTYPICFEATURE$ suppression.	false
+d643835f8b37f4bf574461501b7c96e761536be5	@DISEASE$ mesenteric myxoid @PHENOTYPICFEATURE$ (OMH) is a distinctive myxoid lesion of infancy, characterized by a benign clinical behavior.	false
+023e2e109f7e9b3c3c07bd05ed0f3e84dfa141f0	We present a patient with previously diagnosed @DISEASE$ syndrome, with skin, lung, and renal involvement, who presented with congestive @PHENOTYPICFEATURE$.	false
+e1032e5ffd1ebbcf9e27f6c7b88662f3ea08e5d5	Ectodermal dysplasia is characterized by ectrodactyly often associated with syndactyly, sparse hair, dry skin, hypo-@DISEASE$, @PHENOTYPICFEATURE$ and alterations in sebaceous glands, mammary glands and nipples.	false
+2e32ff128e28b294ff74ac13f15ccd55317351d6	@PHENOTYPICFEATURE$ are occasionally complicated by @DISEASE$.	false
+86082cfebf7b3a615fa2278c601b3685ca5a571f	Reported findings associated with @DISEASE$ include @PHENOTYPICFEATURE$, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects.	false
+ead3537798fc106744d87ddca55d9afb7265419b	@DISEASE$ (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, @PHENOTYPICFEATURE$, congenital cardiac abnormalities, and extremity malformations.	false
+bfd3ae054fb824e46626b0093fb7c649d3bf6a13	@DISEASE$ (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital @PHENOTYPICFEATURE$, and extremity malformations.	false
+772b66a027722325358d3117139362f46104f784	Therefore, the objective of this study was to screen a large mixed-breed canine population for the presence of mutant alleles associated with five autosomal recessive disorders: hyperuricosuria and @PHENOTYPICFEATURE$ (HUU), cystinuria (CYST), @DISEASE$ (FVIID), myotonia congenita (MYC) and phosphofructokinase deficiency (PKFD).	false
+488aaf73bac60ce4265693d2cd2a3c6b4bbb1a9e	L1 retrotransposition is known to be the cause of several genetic diseases, such as @DISEASE$, Duchene @PHENOTYPICFEATURE$, and so on.	false
+41c201537517eb6fa5744c29da0824cb3a22894c	An 18-month-old male infant with moderate @DISEASE$ was admitted with fever, vomiting, and @PHENOTYPICFEATURE$.	false
+a3c783cffeaea3f5f00ac492453ab6e374aa7f18	@DISEASE$ is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, @PHENOTYPICFEATURE$, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia.	false
+6e1ad13a6808442909e48af663e9b6440294bc31	@DISEASE$ must be differentiated from neoplasm, nodular pseudosarcomatous fascilitis, proliferative myositis, myositis ossificans, polymyositis, and, in the oral region, salivary gland lesions and hypertrophic branchial @PHENOTYPICFEATURE$.	false
+4b3823dacf5b464565a7805d9a18ed71c7f11b5b	@DISEASE$ is a zooantroponosis manifested as an infection with a severe evolution, with liver and @PHENOTYPICFEATURE$ and haemoragic manifestation.	false
+9feb38270d9c9bbf168664d8fa6e9b1c27cc848b	Clinical manifestations of @DISEASE$ are variable and may range from subclinical infection to fever, jaundice, hemorrhagic tendency, and fulminant hepato-@PHENOTYPICFEATURE$.	false
+d14d29c07f8548234c1f4c9d17c0bd7ed3f3eeab	A previously well 62-year-old male from North Queensland presented with @DISEASE$ featuring fever, @PHENOTYPICFEATURE$, hepatitis and pulmonary haemorrhage.	false
+98bc94f535cfe98b17b5a45fedb42d38cc1469f3	Humans get infected through skin contact and develop a mild or severe @DISEASE$ that may lead to @PHENOTYPICFEATURE$ and fibrosis.	false
+c1fb372d421829ef2f63eb8335c01dda75a186f0	@DISEASE$ is a zooantroponosis manifested as an infectious disease with a severe evolution, with liver and @PHENOTYPICFEATURE$ and hemorrhagic manifestation.	false
+2f230ba85520cefc16882e6eb43282a752c104bb	Serology for hantaviruses was done by ELISA test in a few patients with @DISEASE$ and severe @PHENOTYPICFEATURE$.	false
+220b5225e10ae7cc937a018670f03d7726b0c8f3	We report the case of a patient with severe @PHENOTYPICFEATURE$ and liver involvement who was initially diagnosed and treated for @DISEASE$ infection.	false
+3b73a459f5da4e6b4763051680fe309314349036	@DISEASE$ is an emergent disease with the possibility of severe evolution in some forms, with lever and @PHENOTYPICFEATURE$.	false
+42679495534c5d622f6fc9ad9ca729b9fd265bc2	@DISEASE$ and @PHENOTYPICFEATURE$: a case series.	false
+a4fd62425223b1964f2002f1d52458b232c5020f	Weil's disease, the most severe form of @DISEASE$, is characterized by jaundice, haemorrhage and @PHENOTYPICFEATURE$.	false
+5926aab1c9c28d72a8fdaebdc1e85d17eb3e65df	Idiopathic, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5a14355a079dc9db4a3d7d9f339d44f85de497df	Younger adults with @DISEASE$ may also be at risk for sleep apnea, but the relation between cardiovascular complications and @PHENOTYPICFEATURE$ is unknown.	false
+ab7496f8142fc11464a4c6da3da9378c7f7fb426	@DISEASE$ is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-@PHENOTYPICFEATURE$.	false
+1df2eb87693e73ea3d2174579e7faf4f58f9b37e	All the SAN patients had severe deep @PHENOTYPICFEATURE$, whereas one patient with @DISEASE$ showed only mild vibratory sense impairment.	false
+6b488ff5a3ed740619db34cc57b6ab50061b9daa	Some of the skeletal and ocular symptoms such as long @PHENOTYPICFEATURE$, scoliosis, and ectopia lentis overlap with symptoms seen in @DISEASE$.	false
+5d0c5076005376ece2d5a73ff01f27e8557c3362	@PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+fc92ea08854e4e78b2bc7952f46c4f60d33604fb	Lung emphysema, @PHENOTYPICFEATURE$, and vascular complications are the distinctive traits of mice with reduced Fbn1 gene expression and of @DISEASE$ (MFS) patients with heterozygous fibrillin 1 mutations.	false
+eaff929b209dd3b2bef2ca99f60aa29eb9614ae5	Lung emphysema, @PHENOTYPICFEATURE$, and vascular complications are the distinctive traits of mice with reduced Fbn1 gene expression and of Marfan syndrome (@DISEASE$) patients with heterozygous fibrillin 1 mutations.	false
+f53c455ece8392bc234af65f0a6b5d0aeb6ab6c3	This experience in mitral valve procedures indicated that the connective tissue defect might compromise the results of such surgery, but that mitral valve operations could be performed satisfactorily in young @DISEASE$ patients, despite complications of left @PHENOTYPICFEATURE$.	false
+d2582f224d83ef6bfc1be826b52cf3221a7d6e28	@DISEASE$ (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1. Clinical manifestations of the MS include aortic aneurysms, dislocation of the ocular lens, and long @PHENOTYPICFEATURE$.	false
+d37160eddb129c1be5b57d6b7bcdec50d73e4dbd	@DISEASE$ is frequently associated with obstructive @PHENOTYPICFEATURE$, which may itself contribute to aortic dilatation.	false
+d53d7532684b0a21fa923852f4bda976140c3f04	@PHENOTYPICFEATURE$ of the heart and carcinoma of the tongue associated with @DISEASE$.	false
+877f045243a887b700ee9132e1037339b0c1b219	@DISEASE$ with @PHENOTYPICFEATURE$ - a case report.	false
+0fc68cde614cde4ef815564eb0cbd6a64676972b	@DISEASE$ is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planus, dental enamel hypoplasia, decreased range of motion or dislocation of the elbow, @PHENOTYPICFEATURE$, and hearing loss.	false
+46bba615fa3d1d0d0b7a8ed62f0fddbc68090d50	Between 1991 and 2001, 24 children with malignant tumors received MT with @DISEASE$ before surgery, and 19 @PHENOTYPICFEATURE$ were resected after SCT.	false
+de1a0b4d2ea2dd3949c2c77d075be3ef3113448b	In this study, we compared ADC measurements of the @DISEASE$ versus entire @PHENOTYPICFEATURE$ (ET).	false
+cb9151500b6346b1b31be489ed08882151f0c951	In the treatment of advanced pediatric malignancies, especially in the case of unresectable @PHENOTYPICFEATURE$, preoperative MT with @DISEASE$ should be considered.	false
+f72c94f2531057d6f0ee8bd8452d477908fde559	Following a prospectively defined search strategy we identified 21 studies (10 prospective and 11 retrospective studies) in which outcomes of 4,990 HDT/@DISEASE$ patients according to their best @PHENOTYPICFEATURE$ response were reported.	false
+85949cd787b2105478227639c67817e92eb2b516	In normal ovaries, lectin binding sites were more uniform, ordered and consistent than in ovarian @DISEASE$ where some lectin staining appeared disorderly inconsistent and varied with the degree of @PHENOTYPICFEATURE$ differentiation.	false
+222cc59ffe522d63b3cc8e62baed4a742d64e3c0	Urologic co-morbidities are common in children with @DISEASE$ and appear most common in patients with more pelvic @PHENOTYPICFEATURE$ involvement (?Altman II).	false
+dd2ddaf00300a44142a42de4985b3d2ce7496bb6	We report the results of the first 100 patients with germ cell (GCT) and sex cord-stromal (@DISEASE$) @PHENOTYPICFEATURE$.	false
+e69dd00462d7dd5b74817a5ab1a04f14723ee811	Six dogs with @DISEASE$ or mixed @PHENOTYPICFEATURE$ containing SCT had AMH concentrations higher than 22?ng/mL, significantly higher than AMH concentrations in control dogs (P?=?0.0004).	false
+2fa1932ae0e4653408b83c1d98defe3573334c37	There was neither a capsule surrounding the tumor nor a papillary structure, known to be characteristic findings of the @DISEASE$ @PHENOTYPICFEATURE$.	false
+a4354637ca9e05dbffc76ffe6e3fe2fb6f484f25	There was neither a capsule surrounding the @PHENOTYPICFEATURE$ nor a papillary structure, known to be characteristic findings of the @DISEASE$ tumor.	false
+8a02e8a0296c0604c0e65a3b73d8523fc0b84671	Untreated individuals with @DISEASE$ (GA1) commonly present with a complex, predominantly dystonic @PHENOTYPICFEATURE$ (MD) following acute or insidious onset striatal damage.	false
+a554284dfed0fb26a3636928a8bc64dbbf9818a3	Striatal injury in patients with @DISEASE$ (GA1) results in a complex, predominantly dystonic, @PHENOTYPICFEATURE$.	false
+3b6e23da331e9155e70a302e5dbb2fb5b9bafa2c	@DISEASE$ is an inherited metabolic disorder which can cause macrocephaly, muscular rigidity, spastic paralysis and other progressive @PHENOTYPICFEATURE$ in humans.	false
+e3c1c3b949b46b5f9844e9a7b3fd353a8be54178	Without neonatal initiation of treatment, 80-90% of patients with @DISEASE$ (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic @PHENOTYPICFEATURE$.	false
+f3e2d9df9fb99eb79373b75e426aa0d9b9ea2dc3	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with mucopolysaccharidosis type III, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+12877d0cb41c5e9a792b9a346df8770024e62ac0	Management of @PHENOTYPICFEATURE$ in @DISEASE$: anticholinergic drugs and botulinum toxin as additional therapeutic options.	false
+028f80381cbbcd663ab1dea53d42f160709bc44e	There may also be a clinical phenotype of glutaric acidemia type II which, like @DISEASE$, is characterized by a @PHENOTYPICFEATURE$ and by degeneration of the basal ganglia.	false
+0b822143e9b6b045676596519244f1a562bc59cb	This is the only manifestation in most patients with @DISEASE$, and, in the case of classical mevalonic aciduria, is part of a severe multisystemic disease, including malformations, severe failure to thrive and @PHENOTYPICFEATURE$.	false
+211d1f6901365c32c7b6e266b9ed43df36041ad4	With the first schedule, mucosal impairment of the @DISEASE$ epithelium was observed, including wall thickening, @PHENOTYPICFEATURE$, decrease in crypt number and size, and formation of pseudomembrane-like substance, whereas these changes were less severe with the second schedule and were hardly observed with the other two schedules.	false
+acbf22e9621b0501035518977dd3135df817e7f5	In the bolus injection group, mucosal impairment of the @DISEASE$ epithelium including wall thickening, @PHENOTYPICFEATURE$, a decrease in the number and size of crypts, and the formation of a pseudomembrane-like substance was observed, whereas these changes were less severe in the infusion groups.	false
+381ee7bee37a4199e8d9d7c988f13de33acdc35b	In @DISEASE$ patients, our results suggest that high-pressure interfiber @PHENOTYPICFEATURE$ elevates free diffusion and restricts exercise-induced fiber dilation.	false
+9727c859a450fabc9822c16b6a9f37716686a756	Mexican-American and Anglo-@DISEASE$ mothers' beliefs and values about child rearing, education, and @PHENOTYPICFEATURE$.	false
+b8355acd901fd82707a8c66b87a47a50266f22dd	Final AMS was positively correlated with the @DISEASE$ at injury, formal education, and presence of @PHENOTYPICFEATURE$ at follow-up.	false
+7f44e476af387dd4c9dd6d20f976ede9dc9bb7dd	@PHENOTYPICFEATURE$ at altitude is reviewed in relation to acute mountain sickness (@DISEASE$).	false
+7099e5114b08fb7833033863a1acb885f38970c8	The @DISEASE$ @PHENOTYPICFEATURE$ service system.	false
+8028374c3856758e96c09d5311da5eaec68ec21b	High Altitude Cerebral Edema (HACE) was @DISEASE$ with @PHENOTYPICFEATURE$ or altered mental status.	false
+fdd840488904db731f339e6b231c4498d0a26343	Our data suggest that @DISEASE$ is not important in the pathogenesis of postural @PHENOTYPICFEATURE$ occurring at high altitude.	false
+30088cb54ed2a7c812a8d243ba1efdeb9034061f	Acute mitochondriopathy and @PHENOTYPICFEATURE$ syndrome (@DISEASE$) is described differently by different authors in the literature.	false
+48e75106bb79e2442dd6ac48fe63479222a5ccc7	Isolated @PHENOTYPICFEATURE$ at altitude may not be related to @DISEASE$ or HACE.	false
+9dc11ef7b86026f34f570542e2d5ce0c053c7d54	@PHENOTYPICFEATURE$ and male sterility (@DISEASE$) mouse.	false
+eae0f95c71a672bdec8e039ed06ec8a77ae82798	Altered mental status and the presence of @PHENOTYPICFEATURE$ distinguishes HACE from acute mountain sickness (@DISEASE$).	false
+41c190fed1df970ea32406dd325cb3d1314ac77f	A five year study of the malformations Registry of the Rhone-@DISEASE$-Auvergne-Jura area shows that the association between renal agenesis and @PHENOTYPICFEATURE$ (with or without the eye abnormalities) is quite rare.	false
+fdc2d685841fcadd4ee4a232dc15f81adc063777	In addition, recessive POLG1 mutations are responsible for sensory-atactic neuropathy, dysarthria and ophthalmoplegia (SANDO), juvenile spino-@PHENOTYPICFEATURE$-epilepsy syndrome (SCAE) and @DISEASE$-Huttenlocher hepatopathic poliodystrophy.	false
+3d2a604260c97e9cc1c8da8446f6e3332943aaf7	We investigated a large, consanguineous, multiplex kindred in which biological features of @DISEASE$ were found in the context of severe bacterial and viral disease, recurrent hepatopathy and @PHENOTYPICFEATURE$, and cardiac malformations.	false
+0630b1dcbe9d391e5c1662eb1c8563df184a9f89	Mabry syndrome, hyperphosphatasia mental retardation syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, @PHENOTYPICFEATURE$, and seizures.	false
+9bc3eed544773cad51b4876d97af69ab4b3f0892	Mabry syndrome, hyperphosphatasia @PHENOTYPICFEATURE$ syndrome (HPMRS), is an autosomal recessive disease characterized by increased serum levels of alkaline phosphatase (@DISEASE$), severe developmental delay, intellectual disability, and seizures.	false
+9546394c1b1813ace5f5257a7e79f4f0414dc5da	A lower CD4+/CD8+ ratio was found in the cutaneous granulomas of patients with a primary immunodeficiency disorder (unclassified combined immunodeficiency, @DISEASE$ and @PHENOTYPICFEATURE$ teleangiectasia) as compared with the patients with cutaneous sarcoidosis.	false
+4b91dcaf1cfbda08d22330486bfb7b43ab663432	Mutations in pol gamma are associated with a spectrum of disease phenotypes including autosomal dominant and recessive forms of progressive external ophthalmoplegia, spino-@PHENOTYPICFEATURE$ and epilepsy, and @DISEASE$-Huttenlocher hepatocerebral poliodystrophy.	false
+16e0b1d2d384f9d7ac092f5d365223933a397bfd	Associated clinical features in three previously reported patients with confirmed FARS2 mutations include infantile onset epilepsy, and a fatal @DISEASE$-like @PHENOTYPICFEATURE$.	false
+8b5c73508fe2c69bcbd7005b5ea0ffa41c59cc99	@DISEASE$ @PHENOTYPICFEATURE$ or scarring was not observed in either group.	false
+7ff483cf27c9fb4fde53d6e95cda428a194c9b1b	Thirty-four of 907 (3.8%) patients had development of mild @DISEASE$ @PHENOTYPICFEATURE$.	false
+9a8f55b8028067f81e93e3dade09c86a88248e23	@DISEASE$ @PHENOTYPICFEATURE$ was found in four cases (8.7 percent).	false
+1a51f7fb1e4c931f46c0aebb6b176ca4c7e00165	@DISEASE$ @PHENOTYPICFEATURE$ was not observed in the CSC-LT group.	false
+1c54565d28839de2df33d3325d49f0484b765784	We reviewed the literature of autoantibody-mediated and autoantibody-associated diseases focusing on anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, autoimmune basal ganglia @PHENOTYPICFEATURE$, Sydenham chorea, and the rare syndrome of @DISEASE$.	false
+a1b589ef9fa3a643ec8dbd5ec9edfbd0cb3e6c9f	This report of a severe, occupational, long-term acrylamide intoxication with @DISEASE$ @PHENOTYPICFEATURE$, that chemical toxicity is still a hazard at Danish workplaces.	false
+22ea2c703591bc0b3e50004c4faa07eaf43a02ba	Conventional therapy may cause a scar or @DISEASE$ @PHENOTYPICFEATURE$.	false
+032e7b396d5abd0a53b2376f7a32326b7c456dfd	@DISEASE$ @PHENOTYPICFEATURE$ or scarring was not observed on any test site.	false
+f86a084e017f6aa8d4afb3ce0fc5e7165da12a8b	There was no evidence of @DISEASE$ @PHENOTYPICFEATURE$, active bleeding, infection, or recurrence.	false
+95004d475a48103fb47f5c07c64b513620e551e6	Neurological complications range from @PHENOTYPICFEATURE$, myopathy, myelopathy to encephalopathy with methotrexate induced encephalopathy leading to @DISEASE$ brain damage or death in most cases.	false
+b94d3f881b5c98dd612e73116553c49e9b2bbcb3	While the association of duodenal atresia with @DISEASE$ has been described, the findings of @PHENOTYPICFEATURE$ and midgut atresia in association with aplasia cutis congenita have not been described previously.	false
+f7443929ddac6cffd6aab20cdf733abbae312e38	While the association of duodenal atresia with aplasia cutis congenita has been described, the findings of @PHENOTYPICFEATURE$ and midgut atresia in association with @DISEASE$ have not been described previously.	false
+3f920afb4768783b54ba3a1e5ae185ec322eb9c6	We reviewed our experience of 450 cases (1990-2000), and found that most common lesions in childhood were: sebaceous @PHENOTYPICFEATURE$, pigmentary naevus, post traumatic alopecia, @DISEASE$ and complicated hemangiomas.	false
+245112f73f3631d494b3b1eaf64bb9b2fd0013fd	Duodenal atresia, @PHENOTYPICFEATURE$, and intestinal infarct in truncal @DISEASE$.	false
+d3b628f629a3abb0f5a658f1645affa16ab3ed86	Bart syndrome consists of @DISEASE$ (ACC) and dominant or recessive dystrophic epidermolysis bullosa (DEB), associated with skin fragility and @PHENOTYPICFEATURE$.	false
+e0c5733bb568bf14d11c27667b49e61509e84970	A newborn boy with @DISEASE$ had @PHENOTYPICFEATURE$, distal duodenal atresia, and a severe infarct of the intestine resulting in complete absence of the entire midgut.	false
+e7ac5108c1c00fcbef3f18c199c9180a24c3979b	To observe the effect of thoracic spinal cord stimulation with dual octipolar epidural electrodes on episodes of ventricular tachycardia and @PHENOTYPICFEATURE$ in a patient with nonischemic @DISEASE$ and severe electrical storm refractory to conventional medical treatment.	false
+b0fcb2114ada4b78dee74cc52b25ba5b0b4d8cf3	Three genes were selected for this investigation: TP63, which codes for the @PHENOTYPICFEATURE$ protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for @DISEASE$.	false
+b87b2848a140b6d1e7153c358fec199c81922987	Patients with @DISEASE$ present with a variable array of developmental defects including craniofacial, cardiac, and @PHENOTYPICFEATURE$.	false
+3c3d07efee42e1e03c2d033c2090d9a95642efd0	Unverricht-Lundborg disease (@DISEASE$) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and @PHENOTYPICFEATURE$.	false
+f58eafe2da36b23413a14ff332d32175ac426901	@DISEASE$ (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and @PHENOTYPICFEATURE$.	false
+6c49a1786059690a01922a37440bcaf48532654e	Unverricht-Lundborg disease (@DISEASE$), progressive myoclonic epilepsy type 1 (EPM1, OMIM254800), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic @PHENOTYPICFEATURE$.	false
+d777de9d8bcf048ab06f16f0ec680c50b88a23a4	@DISEASE$ (ULD), progressive myoclonic epilepsy type 1 (EPM1, OMIM254800), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic @PHENOTYPICFEATURE$.	false
+3318b5bce214023374b6d83afc8cf8705bd243ba	Unverricht-Lundborg disease (ULD), @DISEASE$ (EPM1, OMIM254800), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic @PHENOTYPICFEATURE$.	false
+40d8de7652fbfaa0035c411fc085008c981922a6	[@DISEASE$ manifesting tremulous myoclonus with rare convulsive @PHENOTYPICFEATURE$: a case report].	false
+7e2491b61b660d2c71c2177205604e78df23c07d	@DISEASE$: Clinical course and @PHENOTYPICFEATURE$ management based on the experience of polish centers.	false
+4546944ba1c2e07355979f0d71e4cfd30bf96293	Patients with Unverricht-Lundborg disease, also referred to as @DISEASE$, exhibit widespread motor symptoms and signs in addition to @PHENOTYPICFEATURE$, which suggest abnormal excitability of the primary motor pathways.	false
+1e42588594599518cd7d35a662f2928dfb13af03	Patients with @DISEASE$, also referred to as progressive myoclonus epilepsy type 1, exhibit widespread motor symptoms and signs in addition to @PHENOTYPICFEATURE$, which suggest abnormal excitability of the primary motor pathways.	false
+34f0342c93c34c43200caf23f261ece96c6c4c77	Perampanel (PER) was used in 12 patients with @DISEASE$ (ULD) to evaluate its efficacy against myoclonus and @PHENOTYPICFEATURE$.	false
+f349c8bb6e49e9c10f31ae83c5cdd37edd21338a	Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (@DISEASE$) to evaluate its efficacy against myoclonus and @PHENOTYPICFEATURE$.	false
+b5543bf778c87a20ba717de8236fad47645c9688	@DISEASE$ patients may benefit from add-on treatment with levetiracetam or topiramate for @PHENOTYPICFEATURE$ control.	false
+3a276d23f0cedc8ee222b69528f914db7021fcce	There is a strong relationship between neck pain (NP) and upper limb @PHENOTYPICFEATURE$ (@DISEASE$).	false
+af01a0a5a42257b8b3a018eed5b16971ebd93dc0	PER should thus be tried in @DISEASE$ patients whose @PHENOTYPICFEATURE$ are not satisfactorily controlled.	false
+8e979159aa8f17dbfcdf7fcef8cb9c59ad825b82	Whether this has led to improved @PHENOTYPICFEATURE$ control or functional outcome in @DISEASE$ patients remains obscure.	false
+341c507204906845dcfdba0c7803b7a89c1a5a9f	The @PHENOTYPICFEATURE$ was removed by wedge resection, and pathologically diagnosed during the operation as a metastasis from the @DISEASE$.	false
+9e1178299365b9a2b029f32dbd0413611b89eea9	The @PHENOTYPICFEATURE$ consisted of clear cells similar to the @DISEASE$.	false
+df415ed14341f9b22585886f07678eec40ca5500	Clinically distinct epigenetic subgroups in @DISEASE$: the degree of H19 hypomethylation associates with phenotype severity and genital and @PHENOTYPICFEATURE$.	false
+1d3be9190b8203c9aed7b203c93d9efffe54bbc5	The Social Responsiveness Scale (@DISEASE$) is a tool for quantitative @PHENOTYPICFEATURE$ assessment in children and adolescents.	false
+3c39005c87b2b4804b42b4f8668a3bdd31b8f8b4	Stereotactic radiosurgery (@DISEASE$) has been proposed as an alternative treatment modality to pharmaceutical administration and deep brain stimulation (DBS) for patients suffering from @PHENOTYPICFEATURE$.	false
+4fc849889f51b566d6ed98b480aa4509a513c26c	Pupil dilation metrics correlate with individual differences measured by the Social Responsiveness Scale (@DISEASE$), a quantitative measure of @PHENOTYPICFEATURE$ traits.	false
+1f11d81c22e3c139fadbb98a5ca031337c9fcb69	The Social Responsiveness Scale (@DISEASE$) is an @PHENOTYPICFEATURE$ rating scales in widespread use, with over 20 official foreign language translations.	false
+f49853ed5ba2cd248e7256589eaa4f08478969c5	Even though the development of DBS has supplanted lesioning as the first alternative in @PHENOTYPICFEATURE$ surgery; @DISEASE$ might still be the only treatment option for selected patients.	false
+b6dad44f7d0af5c5626f23929e0ed5ab00774281	Robotic @DISEASE$ is a safe and effective treatment for acromegaly: radiation-induced visual complications and @PHENOTYPICFEATURE$ is rare.	false
+25a8e8527a4aa72d641fa978bdbff81790b4b934	Correlational analyses indicated that @DISEASE$ factors were highly associated with @PHENOTYPICFEATURE$ symptoms and behavioral measures, indicating concurrent and predictive validity.	false
+d6bb3e2884797122975685a2e2a0b684c335f5b1	In contrast to surgery, SRS has the benefit of being noninvasive and associated with a very low incidence of diabetes insipidus, although @PHENOTYPICFEATURE$ may be more common with @DISEASE$.	false
+493c31166e62e7ae56dc0e454f99426087825bb0	Rates of endocrine remission and relapse, post-@DISEASE$ @PHENOTYPICFEATURE$, and radiation-induced sequelae were not increased following higher dose treatment.	false
+4ad2ff80475f1eb07e3f5b6c45b0bb0d1489ddba	Pancytopenia complicated with @PHENOTYPICFEATURE$ due to @DISEASE$ deficiency: clinical diagnostic review.	false
+26c1c77360751ee2858f35c127800d566167a785	Surviving animals exhibited growth failure, skin laxity, @PHENOTYPICFEATURE$, and seizures because of perinatal @DISEASE$ deficiency.	false
+f99a3813c8c02331beb1df929e8a571e164b656e	We review 11 previous cases of @DISEASE$-deficient cytopenia, categorized into two groups according to etiology, and define the characteristic symptom of copper malabsorption caused by excess Zn as @PHENOTYPICFEATURE$.	false
+400463cf1b2f42bd9b55097231c351cbdb0e28ea	We review 11 previous cases of copper-deficient cytopenia, categorized into two groups according to etiology, and define the characteristic symptom of @DISEASE$ malabsorption caused by excess Zn as @PHENOTYPICFEATURE$.	false
+566ed8546d5e1876936c6278eaa8538d4539dc9f	Clinical, physiological and pathological characterisation of the sensory predominant @PHENOTYPICFEATURE$ in @DISEASE$ deficiency.	false
+6524255a30c9b0275bf4ec3ddc44aaa41062d502	Severe ataxia, myelopathy, and @PHENOTYPICFEATURE$ due to acquired @DISEASE$ deficiency in a patient with history of gastrectomy.	false
+cf1c36ffab4161b7af6b8f96b93b56741ae7168f	Patients with simultaneous @DISEASE$ deficiency (<0.78??g/mL) and @PHENOTYPICFEATURE$ seen at the Mayo Clinic from 1985 to 2005 were identified.	false
+32f43be3c5a45532052e14a96bcb69235e4d0863	[@DISEASE$ deficiency and @PHENOTYPICFEATURE$ as an outcome of gastrectomy].	false
+0cafee4ed14eef8aad68f1ccd6285eaf47540137	@DISEASE$ deficiency in Wilson's disease: @PHENOTYPICFEATURE$ and myelodysplastic syndrome complicating zinc treatment.	false
+b6221621607b6d7689a8f50ec57dc0f655cda64d	To characterise the clinical, physiological and pathological features of @DISEASE$-deficient @PHENOTYPICFEATURE$.	false
+e87bb2600436bf4b409c718198a02efd17f0a098	We are unable to demonstrate a relationship between our CD patients with @PHENOTYPICFEATURE$ and @DISEASE$ deficiency.	false
+ad8ec8edb1555a9aae8d0ce63c7517d1bd431ebf	Although @DISEASE$ is a cause of blood tears from the conjunctival telangiectasias, @PHENOTYPICFEATURE$ from intraocular vascular malformations is a rare complication.	false
+6e7588dcd0fc0f458b5bb37d136d7219be763715	We summarized the clinical characteristics of patients presenting with @PHENOTYPICFEATURE$ and limbic encephalitis (LE) associated with leucine-@DISEASE$ glioma inactivated-1 protein antibody (LGI1) in order help recognize and treat this condition at its onset.We analyzed clinical, video electroencephalogram (VEEG), magnetic resonance imaging (MRI), and laboratory data of 10 patients who presented with LGI1-LE and followed up their outcomes from 2 to 16 (9.4	false
+a6a3ff790376dbf066ae4b850084cd935aeb3dcd	To characterize the clinical features and MRI abnormalities of leucine-@DISEASE$ glioma-inactivated 1 (LGI1)-autoantibody (Ab) faciobrachial dystonic @PHENOTYPICFEATURE$ (FBDS).	false
+9b1aeea79b5e31da3bf639611d0a1d08aba24750	A case of a 21-month-old girl, diagnosed with @DISEASE$, manifesting signs of worsening @PHENOTYPICFEATURE$, obesity, irascible and disordered behaviour, as well as developmental delay, is presented.	false
+3434814c8c94b3bc5cac6fa3153e3fcfa1686364	Electrophysiological and @PHENOTYPICFEATURE$ in children with the @DISEASE$.	false
+d304f98da534643dff3cd74689d76f89d4483ce7	The patient showed neither renal malformation nor dysfunction, and @PHENOTYPICFEATURE$ seemed to be relatively mild for @DISEASE$.	false
+3d8f1a6a422ec4e5c4392a6605bacac9901fe514	@DISEASE$ is a heterogeneous disorder causing a spectrum of symptoms, including @PHENOTYPICFEATURE$, kidney disease, and hearing impairment.	false
+5d18ea6e1107b387839f4f7e2b413c0b1d2db551	This case gives further evidence of the fact that @DISEASE$ may be associated with @PHENOTYPICFEATURE$.	false
+0e6255c03b18db8518c82dd4b1678625c2550c56	Knockdown of bbs3 in zebrafish alters intracellular transport, a phenotype observed with knockdown of all @DISEASE$ genes in the zebrafish, as well as @PHENOTYPICFEATURE$.	false
+b2a5a7a9b40f67f846f25db2e2b775ecf20ab440	It shows similarities to @DISEASE$ and Cohen syndrome, but can be distinguished by clinical features; the age of onset and nonprogressive nature of the @PHENOTYPICFEATURE$, the lack of characteristic facies, skin or gingival infection, microcephaly, 'mottled retina', polydactyly and small penis without testicular anomalies.	false
+3ff5c622fa33aa1226970a0833c3ba2702d65958	Although the @DISEASE$ phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenitalism, renal @PHENOTYPICFEATURE$ dystrophy, and several less frequently observed features.	false
+7ee95e0f8cfeea1d200a94193ee5be668f7f24ef	The major manifestations of the @DISEASE$ are @PHENOTYPICFEATURE$, tapetoretinal degeneration, obesity, renal abnormalities, and hypogenitalism (described mainly in males).	false
+181e243b52b88a450cf8f2254e4853d4cfce4c1d	Olfaction evaluation and correlation with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b375357f7b9aa15283e3cab0bd7d199df0fae104	Flowing spinal hyperostoses such as that seen in @DISEASE$ may become large enough to physically encroach on the pharynx or esophagus or indirectly predispose the patient to swallowing problems from posttraumatic @PHENOTYPICFEATURE$.	false
+20efc5e9905ab33c0cc68c49695ded4325a0bcb1	In the multivariate model, the most important independent predictors of @DISEASE$ @PHENOTYPICFEATURE$ volume and pathological stage were the preoperative PSA level and percentage of cancer in the biopsy (P<0.01).	false
+1f9428ba0b2c8d6b63217a8b196004808ca3d513	The aim of this study is to assess the involvement of the tumor suppressors P16INK4A and p53 in @DISEASE$ @PHENOTYPICFEATURE$ progression.	false
+1ece6d9c0768fa1c7c0fdd93050826534639874f	The aim of this study is to assess the involvement of the @PHENOTYPICFEATURE$ suppressors P16INK4A and p53 in @DISEASE$ tumor progression.	false
+4edb6be3f23d46eabd44f6e049bcd6018c0c409c	Recent studies have yielded the following findings: The primary quality of life reduction that patients perceive is voice-related; the membranous vocal folds are the most frequently involved anatomic subsite in adult-onset RRP; there may be a correlation between laryngopharyngeal reflux, herpes simplex virus type 2, and adult-onset RRP; there has been a decline in RRP incidence in Australia following the implementation of a national vaccination program; addition of educational audiovisual aids assists in vaccine acceptance rates; preventive vaccination can be used as treatment for pediatric as well as adult RRP patients with demonstrable effects on antibody titers and reoperation rates; calreticulin-linked DNA vaccines show promise in reducing the growth rate of human papilloma virus (HPV)11 E6/E7-expressing @PHENOTYPICFEATURE$ in mice; injection of bevacizumab is associated with no adverse tissue affects; systemic bevacizumab is effective as a treatment for severe uncontrolled disease; pegylated interferon treatment is effective in select severe pediatric @DISEASE$ disease; and finally, increased rates of programed death 1 T-lymphocyte infiltration and programed death-ligand 1 expression are seen on both papilloma and infiltrating immune cells.	false
+3ec84ea87057db641e67d6de1cc58f5f06f32317	The CAM assay demonstrated the specific @DISEASE$ @PHENOTYPICFEATURE$ growth pattern after implantation and provided the first morphological and morphometric characterization of the RRP CAM model that opens new horizons in studying this disease.	false
+6799dfc1b953a5abc3250ef6f44029033913b69a	The development of @DISEASE$ appears to elicit psychosocial problems directly or indirectly by provoking depression or uncontrolled @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+f223bc391e1b4d7fa9467947e2460de826fd4317	@DISEASE$ and @PHENOTYPICFEATURE$: relevance of prostaglandins?	false
+900093454fa47f52cd6def801a7a88935a471cfe	@PHENOTYPICFEATURE$ and iron deficiency are common complications of @DISEASE$ (UC).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+9061a1ca202a7beea160d2a6cf0cc44db27a54c1	Symptomatic @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+5ea1c690d26fe344f2bcfc100b5c0fb016f53502	@PHENOTYPICFEATURE$--a new complication of @DISEASE$?	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+82509bc0bee3a29da4783e946dc297836545b1ec	Several @DISEASE$ cases presenting with @PHENOTYPICFEATURE$ have been reported.	false
+6299d3ae8b387416e9c5a789b3979e7f179cfa37	Treatment of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+cd7e9f918e869440dd92abf584e9704f357c6048	@DISEASE$ and @PHENOTYPICFEATURE$: is there a relationship?	false
+947c552c941731638ad9a6545d2eb339f5893d10	By searching the electronic database, we may find that apart from the epileptic conditions, Intermittent Head Drops have been in fact reported in the setting of @PHENOTYPICFEATURE$, sleep disorders and even internal medicine disorders, such as @DISEASE$.	false
+8fcea153dcdbb60dde687e9860af48bc5f5798dc	@DISEASE$ is a dystonic @PHENOTYPICFEATURE$ described in children with severe gastro-oesophageal reflux.	false
+f4651d9f5d788fca29a4ac61f270ad0ad010e76b	This is only the second report of @DISEASE$ in adult, a @PHENOTYPICFEATURE$ of unknown mechanism that occurs almost exclusively in young children, often misdiagnosed as epilepsy or episodic dystonia.	false
+4f841b13bc0258032d797e4ff72c9eecf9625b05	Other important non-inflammatory @PHENOTYPICFEATURE$, typically seen in symptomatic children with underlying aetiologies such as trauma, severe cerebral palsy, epileptic encephalopathy, Down syndrome and Rett syndrome, include dystonic posturing secondary to gastro-oesophageal reflux (@DISEASE$) and Paroxysmal Autonomic Instability with Dystonia?(PAID) or autonomic 'storming'.	false
+13ef8a66b7e776094b961b58b7feaa4e8bf7d3f6	@DISEASE$ (XP), an autosomal recessive disorder, is characterized by extreme sensitivity to sun exposure, a high incidence of skin cancer and frequent @PHENOTYPICFEATURE$.	false
+ba08bd924a540a089e084a90172a229d5cb3d507	@DISEASE$ (XP) is an autosomal recessive disease that is characterized by hypersensitivity to sunlight with a high incidence of skin cancer and exhibits variable @PHENOTYPICFEATURE$.	false
+5dd59ffdd04f6c20fa623410105854d1059253ab	@DISEASE$ is characterized by increased sensitivity of the affected individuals to sunlight and light-induced skin cancers and, in some cases, to @PHENOTYPICFEATURE$.	false
+0f0e0076bfcae223899040e2c1b0e6166ea2dfcb	@DISEASE$(XP) is an autosomal recessive disease that is characterized by hypersensitivity to sunlight with high incidence of skin cancer and that exhibit variable @PHENOTYPICFEATURE$ in some groups.	false
+355546bab1ff8f265b43be812c829c5f02c14c1e	@DISEASE$ (XP) is a rare inherited disease associated with photosensitivity, a very high susceptibility to develop neoplasm on sun-exposed skin and @PHENOTYPICFEATURE$ for some patients.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+0583a498a9c1336ab87a5aa704f3bdb1ea3583d3	@DISEASE$ @PHENOTYPICFEATURE$ correlate with colony-forming ability after ultraviolet radiation.	false
+245e12475e65906da29e1494c86cb6bac177512e	@DISEASE$ associated with @PHENOTYPICFEATURE$ is a less familiar neurocutaneous disorder.	false
+7fbc279026d13a7cda5d723d71dc5e896584eb7e	@DISEASE$ is a rare autosomal recessive disease that causes changes in skin pigmentation, precancerous lesions and @PHENOTYPICFEATURE$.	false
+d4d6e13cca870bd26f14b3d996d7a7d188d0b05b	Robbins and colleagues [Andrews A, Barrett S, Robbins J (1978) @DISEASE$ @PHENOTYPICFEATURE$ correlate with the colony forming ability after ultraviolet irradiation.	false
+c6b81d7a064f52c99b537f68840118adc4b6f55d	Furthermore, a Western blot assay of the tumors revealed that HVJ-E targeted to the @PHENOTYPICFEATURE$ after systemic treatment with @DISEASE$.	false
+1b88ad885be21b6ee109d1fea8b2d399075df19a	Furthermore, a Western blot assay of the @PHENOTYPICFEATURE$ revealed that HVJ-E targeted to the tumor after systemic treatment with @DISEASE$.	false
+6a13919f57526ba3960f0070e7953c7ff2f9591a	@DISEASE$ is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, @PHENOTYPICFEATURE$, and imperforate anus.	false
+d1f96ff15e071fedc5a09b59a071e1bf3b1424d7	The use of Salmonella as a coating for P-HVJ-E (@DISEASE$) enhanced the antitumor activity and maintained the @PHENOTYPICFEATURE$-targeting activity.	false
+fcd7fb7b28435133c88d716aaa6ee327d96db430	Sensitivity and specificity of @DISEASE$ for detecting @PHENOTYPICFEATURE$ foci ?0.2?mL in volume were 63 and 53%.	false
+e443b8554f967ccb93cd93103c019cadf6c2ba54	Treatment with @DISEASE$ resulted in delayed @PHENOTYPICFEATURE$ growth in tumor-bearing mice.	false
+cdb0933f0724be9359c0a63b97d71ef44f84e3fa	Treatment with @DISEASE$ resulted in delayed tumor growth in @PHENOTYPICFEATURE$-bearing mice.	false
+b078e402c3d2c203f2ae119fc4fd225857374ead	@PHENOTYPICFEATURE$ in @DISEASE$: Report of two patients and review of the literature.	false
+6c5102e37cacfbffece5f72e1c3d9b0fcd735839	We noted that the features of PIV overlap with the VATER association and @DISEASE$ (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, @PHENOTYPICFEATURE$, imperforate anus, and hypothalamic hamartoma.	false
+b9360816d895a372a246ead1b45c5e7e6a9bde34	We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (@DISEASE$, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, @PHENOTYPICFEATURE$, imperforate anus, and hypothalamic hamartoma.	false
+f2bd5f18b28208dcdc7982a87893ec482973fb54	However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic @PHENOTYPICFEATURE$, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (@DISEASE$), which was then genetically confirmed by detection of a GLI3 mutation (Q717X).	false
+779eaba60139d6f60efd727fcc72e7a3845caace	However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic @PHENOTYPICFEATURE$, presumably a hamartoma, favoured the diagnosis of @DISEASE$ (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X).	false
+7c027c4d6571d8776d70306b3b78794c6af154b4	The complications related with @DISEASE$ included anal fistula (seven patients), diabetes mellitus (four), malignant @PHENOTYPICFEATURE$ (two) and sepsis (one).	false
+70b091e317b1ce51344615b2bab97d33e4e6a927	The sensitivity and specificity of @DISEASE$ for localizing @PHENOTYPICFEATURE$ to the correct prostate sextant, compared with standard TRUS-guided biopsies, were 100 and 5.9%, respectively.	false
+87b44af7dc230010bd7c39761d26c8f94ff79b56	The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, @PHENOTYPICFEATURE$, @DISEASE$, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+12c5d0cc61a1e620c89ad184831b1e01b514a04d	This syndrome is characterized by a tetrad of chondrodystrophy, post axial @PHENOTYPICFEATURE$, and @DISEASE$, mostly involving teeth and nails and a high frequency of congenital cardiac anomalies, most frequently a common atrium.	false
+81355d96e842a39a65c43cc07d3c4f5f0ffff213	An 18-year-old male with an XYY karyotype is reported with @PHENOTYPICFEATURE$, normal intelligence and normal personality, in contrast to the @DISEASE$ which can be characterized by tall stature, mental subnormality and aggressive behaviour.	false
+2ab16a633e3a280d2c01bacebca7d303bada6275	A case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+0728e4b67f1d5409257a829dd19dc5334a6382fd	Orthopedic problems in the treatment of chronic polyarthritis. he brisement force and the stage by stage compensation in knee and hip flexor @PHENOTYPICFEATURE$ in @DISEASE$ patients].	false
+d44fa6dbaf2527d11de59e563c30e5faf01000cc	The associated conditions were infectious: bacterial pneumonia (n = 50), pulmonary tuberculosis (n = 10), @DISEASE$ (PCP; n = 5), and empyema (n = 2); and noninfectious: @PHENOTYPICFEATURE$ (n = 15), hypoalbuminemia (n = 12), malignancy (n = 9), pancreatitis (n = 7), hepatic cirrhosis (n = 5), congestive heart failure (n = 4), atelectasis (n = 3), pulmonary embolism (n = 3), trauma (n = 1), and surgery (n = 1).	false
+a4185cfbcb5f8fe3bbf4b892f91f9ec2319d1819	Severe unusual presentations include acute myopericarditis, @PHENOTYPICFEATURE$, and opportunistic infections such as esophageal candidiasis, cytomegalovirus infection, and @DISEASE$.	false
+1113a9c7fc8be8881dcd4e6ccd6e8737120123e6	This report describes a patient in @PHENOTYPICFEATURE$ undergoing intermittent peritoneal dialysis who is treated with pentamidine for @DISEASE$.	false
+2f45ddfdc119c30b88e73a631264f5cdd5da849c	MR imaging assessment of juxta cortical @PHENOTYPICFEATURE$ in @DISEASE$ in 28 patients.	false
+e6d56cabec7dd521e1f8ea2d7956ef3889b2cdfb	MR imaging features of @DISEASE$ (@PHENOTYPICFEATURE$, hyperemia, and nidus vascularization) were considered at baseline and at imaging follow-up.	false
+0931424c4f423e437e68a974270c8d0773ad8f57	Pathology was consistent with @DISEASE$ with marrow @PHENOTYPICFEATURE$.	false
+fd00268aab890f3ef76fe462d71beb6f366a955b	At imaging, the @PHENOTYPICFEATURE$ and hyperemia associated with @DISEASE$ gradually disappeared in all lesions.	false
+7fc063d7fc9adfa002c4fddf9a4120fc3afce17f	The relationship between bone marrow @PHENOTYPICFEATURE$ and @DISEASE$ has not been questioned in the literature before.	false
+edbca4fd2585ecbcb9ade3726d98f6fd5a882bb4	Peritumoral @PHENOTYPICFEATURE$ in @DISEASE$ on magnetic resonance imaging.	false
+94d2778f5f7cd899897c3fec4101bcbdaae92580	Bone marrow @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d8b6953d029289e09b78aebdfdbf790d4b81d094	Soft tissue @PHENOTYPICFEATURE$ in @DISEASE$.	false
+46f0346a3d8a1af8564515bb78dfd64be85bf9b1	Taken together, our results indicate that @DISEASE$ should be considered when persistent and extensive, peri-articular bone marrow @PHENOTYPICFEATURE$ is diagnosed.	false
+797cdb624a585cc78f419e92dd7c5fea937d9ce1	@DISEASE$ is characterized by an intracortical nidus with a variable amount of calcification, as well as cortical thickening, sclerosis, and bone marrow @PHENOTYPICFEATURE$.	false
+a656bddc844d8cf8141e2e36ce4571c1f25bf3f4	@PHENOTYPICFEATURE$ and @DISEASE$ (IIH) are neuropathies associated with disturbed cerebrospinal fluid dynamics.	false
+b7ddbf852bfa89c44c5df037f725e9c9d2fb62a0	@PHENOTYPICFEATURE$ and idiopathic intracranial hypertension (@DISEASE$) are neuropathies associated with disturbed cerebrospinal fluid dynamics.	false
+69424412237ea90fc06c93e5f46af6effd0dd6da	Transient visual obscurations (p?=?.006), double vision (p?=?.033), neck pain (p?=?.025), and @PHENOTYPICFEATURE$ (p?=?.013) were presenting symptoms more frequently reported by patients with @DISEASE$ diagnosis.	false
+1d772d6181600bed42fd7cf494036bd05606acff	Patients were diagnosed with @PHENOTYPICFEATURE$, @DISEASE$ (IIH) or an arachnoid cyst.	false
+0c64a6d502ae7b1b58ef538f1e5c27bb0669b065	One hundred and thirty-four patients below 15?years of age were the first time treated with CSF shunt or ETV for @PHENOTYPICFEATURE$ or @DISEASE$ (IIH) in 2009-2013.	false
+eee3eb3a09964f340220f519409b1a1892400c9c	Similarly to patients with @DISEASE$, children with @PHENOTYPICFEATURE$ show a significant elevation in collateral venous flow, indicating that the same venous pathophysiological process may be operating in both conditions.	false
+273c9ecb023d46107b3db99991e559b7d183c5b7	Similar to patients with hyperemic @DISEASE$, children with hyperemic @PHENOTYPICFEATURE$ show a significant elevation in collateral venous flow, indicating that the same venous pathophysiology may be operating in both conditions.	false
+707b6ac0138dba2596f00d0ec7ee8bbc682abdfc	A subset of pediatric @DISEASE$ patients are coincidentally found to have papilledema and elevated intracranial pressure without symptoms (eg, headache, visual blurring, @PHENOTYPICFEATURE$).	false
+b24be8158dfe97bfe54a38f1c21a75a0150acaa8	The objective was to determine the rate of infection and risk factors associated with elective spinal catheter insertion for evaluation of @PHENOTYPICFEATURE$ and @DISEASE$ (IIH).	false
+6e3c8c188bc4c5aa0302fa8d3a644cc6bfc621d5	Dilated ONS is associated with @DISEASE$ and @PHENOTYPICFEATURE$, and is believed to reflect increased intracranial pressure (ICP).	false
+ea3dcb63c42f49f00e01160e2624b76a0019b474	Brain deformation can be seen in @PHENOTYPICFEATURE$ and @DISEASE$ (IIH) via medical images.	false
+ece94150796b3ab17347ca568f386fe3003a3d6f	She had a cloverleaf skull, @PHENOTYPICFEATURE$, broad thumbs and halluces, and variable accompanying anomalies compatible with @DISEASE$.	false
+783a4a8735ed9d423a7eff0d84c75e1fc18690e3	@DISEASE$ is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and @PHENOTYPICFEATURE$, and broad and medially deviated thumbs and great toes.	false
+cd98ab07b144ce3a8c6df3f662f60c7e108fc13d	@DISEASE$ (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, @PHENOTYPICFEATURE$ and digital malformations.	false
+978d9af4858ee809a150e957b821709410491595	Eleven new patients of Iraqi-Jewish origin with bilateral @DISEASE$, @PHENOTYPICFEATURE$ ('optic atrophy plus' syndrome) and 3-methylglutaconic aciduria (type III) are described.	false
+393507514227c00efa7cc2df18cd6be6163f478c	Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, @PHENOTYPICFEATURE$ ('@DISEASE$ plus' syndrome) and 3-methylglutaconic aciduria (type III) are described.	false
+a8f42441e858d249d0fb6133366fadccb258238a	Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or @DISEASE$ complicated by @PHENOTYPICFEATURE$.	false
+5d1e7b68a045bd11d427242aafcbc229f614e590	Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure @DISEASE$ or optic atrophy complicated by @PHENOTYPICFEATURE$.	false
+f76287eb42b422fbbb3c1b9384a8695c9c75d2a9	@DISEASE$, other @PHENOTYPICFEATURE$ and psychiatric symptoms developed with increasing disease duration.	false
+cb6e76adad08bf8a9400acd0396ef92a9bca8be3	Milder mutations in OPA3 should be sought in patients with @DISEASE$ with later onset, even in the absence of additional @PHENOTYPICFEATURE$.	false
+7a7f2eb73fd610caf55fa833d7ff5e0e5c905b96	MICRO syndrome is an autosomal recessive syndrome consisting of congenital microcephaly, cortical dysplasia, microcornea, cataracts, @DISEASE$, severe mental retardation, hypotonic diplegia, and @PHENOTYPICFEATURE$.	false
+2b08327f2030ecc925afa94ac18d341d58474bf9	A familial syndrome of infantile @DISEASE$, @PHENOTYPICFEATURE$, and spastic paraplegia.	false
+646c60b826df30c2e924923aa3c0ffcd1623d522	Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic @PHENOTYPICFEATURE$ and progressive @DISEASE$.	false
+586be4a74f574f461a4eac56d32f6dbe13e8a65d	The index patient presented with bilateral @DISEASE$ and ocular @PHENOTYPICFEATURE$, a progressive polyneuropathy, psychiatric involvement, and cardiomyopathy.	false
+071f5739e8ed4d521f9a81d9dd4cef15abd4812a	We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, @DISEASE$, myoclonic seizures, and @PHENOTYPICFEATURE$.	false
+e9799fa052b2b78c5ba12c55680a8f58aaa6c827	Three generations were affected with @DISEASE$, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly @PHENOTYPICFEATURE$.	false
+c42dc0518cc13421ae7fa8282401408db98f38ae	Three generations were affected with optic atrophy, which differed in some respects from classic dominant @DISEASE$, and an asymptomatic, mainly @PHENOTYPICFEATURE$.	false
+5a38a6b4df1b163e43b942b3fbaa3627c7fbd774	We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild @PHENOTYPICFEATURE$, anteverted nares with low flat nasal bridge, @DISEASE$, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and mild developmental delay.	false
+b74969792f97ea3bc313ce291eb85c812ce50f54	We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, @PHENOTYPICFEATURE$, mild retrognathia, anteverted nares with low flat nasal bridge, @DISEASE$, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and mild developmental delay.	false
+36f55da2aada9a08a89ce6715db516cc3974e7f7	This was a boy with @PHENOTYPICFEATURE$, @DISEASE$, minor facial anomalies, and ambiguous genitalia.	false
+166f4306ed054b52b7e38c62d65de698cabc62c7	The main dysmorphic features are a @PHENOTYPICFEATURE$ and congenital ptosis with @DISEASE$.	false
+ee392a231b9a7d97c57c920c683ed78c4b539630	It is associated with ptosis of the upper eyelids, @PHENOTYPICFEATURE$, @DISEASE$, and flattened and widened nasal bridge.	false
+4839d635752646f85af1deab510ce07d0c8619de	Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with @PHENOTYPICFEATURE$, @DISEASE$, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low-set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases.	false
+a536bac613c35c1e513ec2cc11c73842db800cc6	Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; @PHENOTYPICFEATURE$ with epicanthal folds, @DISEASE$, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low-set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases.	false
+4cd43816bde6948d650458882ff8f27eeee57809	The congenital eyelid tetrad (CET) comprises @PHENOTYPICFEATURE$, @DISEASE$, ptosis, and blepharophimosis.	false
+242550dd5664f7a1b7c255d015d2c8d65bc3af74	Holoprosencephaly, @DISEASE$ and @PHENOTYPICFEATURE$: a second case.	false
+ac2095880b55fd1a9c392436858c0a2c0644a34e	Craniosynostosis, @DISEASE$, scalp @PHENOTYPICFEATURE$, and sensorineural deafness in two sibs.	false
+7eebaaa09b62aebd9d7ee964ff9fdac9efa2d7c0	The correction of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8399b9a158509beddf699e312f15c26b2ec6ecc6	We report on a mother and son with a similar syndrome of hypertelorism and @DISEASE$, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, @PHENOTYPICFEATURE$, thin upper lip, smooth philtrum, and apparently low-set prominent ears.	false
+d2b097d16cb2e23903c91472039c197730c64192	We report on a mother and son with a similar syndrome of hypertelorism and @DISEASE$, @PHENOTYPICFEATURE$, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears.	false
+d28c2205129c1a9f81ee05c915750f8268f3671a	In a linear regression model, only exposure to RT (??=?-?5.1; 95% CI -?8.9 to -?1.3; p?=?0.008) and @PHENOTYPICFEATURE$ distance from the anal verge (??=?1.23; 95% CI 0.48 to 1.97; p?=?0.001) were significantly correlated with @DISEASE$ total score.	false
+fb243876c867b57838734e524dc0244e8d7c64f9	At admission (T0), age, gender, primary @PHENOTYPICFEATURE$, concomitant diseases, Karnofsky status, Palliative prognostic score (PaP), Edmonton Symptom Assessment scale (ESAS), Memorial Delirium Assessment Scale (MDAS), and bowel function index (@DISEASE$) were collected.	false
+830a1b8f791267e70748c0e06fadcd99f8f79fc1	We report on two sisters with an unusual form of @DISEASE$, protruding nasal spine, micrognathia, @PHENOTYPICFEATURE$, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation.	false
+ad9e1a2433ac930de417417522b4efc0e09295b8	A 9-year-old girl with @DISEASE$, facial dysmorphism, mental retardation, @PHENOTYPICFEATURE$ and acral abnormalities is described, in whom both clinical and radiological features support a diagnosis of Hunter-McAlpine syndrome.	false
+06a37d203450afb3a1813a448453ed73be657af5	A child with phenotypic features of the 9p- syndrome, including metopic @DISEASE$, small ears, abdominal wall defect, and mental retardation, as well as @PHENOTYPICFEATURE$, was found to have a cytogenetically balanced 3;9 translocation, with breakpoints at 3p11 and 9p23, inherited from his phenotypically normal father.	false
+1463edf8c4c8ba330da0f21db0c1bc6774aa7b80	A heritable syndrome of @DISEASE$, short thin hair, dental abnormalities, and @PHENOTYPICFEATURE$: cranioectodermal dysplasia.	false
+e410e467dfbd51bd54324247e21b75287e5c6d67	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and @DISEASE$, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome.	false
+389898759656d2f2a674eef82e54470b94653886	We report on a male fetus with bilateral brachial @PHENOTYPICFEATURE$, complex facial clefts, frontal @DISEASE$ and hypoplasia, thoracic kyphoscoliosis, and holoprosencephaly.	false
+19bf769f3ecb108a05e47d086a0ebd1f8c34398c	Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth deficiency, microcephaly, hypoplasia of skull bones, wide fontanels, coronal or lambdoidal @DISEASE$, upswept frontal scalp hair, broad nasal bridge, shallow supraorbital ridges, prominent eyes, low-set ears, maxillary hypoplasia, epicanthal folds, @PHENOTYPICFEATURE$, talipes, hypodactyly, and syndactyly.	false
+0b4416c54fff66534db9017f44dd2a0246bab639	@PHENOTYPICFEATURE$ skeletal dysplasias and @DISEASE$: what do they have in common?	false
+e143b39eef5a25e9752ad9f23497887abf56b466	Craniomicromelic syndrome: a newly recognized lethal condition with @DISEASE$, distinct facial anomalies, @PHENOTYPICFEATURE$, and intrauterine growth retardation.	false
+f52326ac40e94df8cf160e3c97b269a2fee5cd40	We describe a fourth case of Elejalde's syndrome (acrocephalopolydactylous dysplasia) in an 18 week fetus which had the typical features of @DISEASE$, gross oedema, @PHENOTYPICFEATURE$, postaxial polydactyly, redundant connective tissue and cystic renal dysplasia.	false
+070f0ae1f463ebde7bb38cd52d15258cf692bf00	The association of solid @PHENOTYPICFEATURE$ with @DISEASE$ (ITP) is rare.	false
+df28ce9623fe257763feba7b1387c328f031c02e	Three patients had scleroderma as their main feature, one patient had hepatitis C @PHENOTYPICFEATURE$, and one had @DISEASE$.	false
+9d2d2366d552e94f1ff996092f39f989f00c7dea	Beside @PHENOTYPICFEATURE$, the biggest risk for patients affected by a MYH-9 disorder are the adverse effects resulting form treatment based on the misdiagnosis of @DISEASE$.	false
+90fbe5278374767591d33c1da88665e644bdebe1	@DISEASE$ is also an infrequent complication of solid @PHENOTYPICFEATURE$.	false
+1a5a00e30e45c7d6ec477a3d6476b9e4e75bcc8e	@DISEASE$ following autologous transplantation in solid @PHENOTYPICFEATURE$ has not been reported.	false
+1722eff8122522ea3afdaca626940b276d65a2e2	However, our fourth case, a patient with @DISEASE$ and @PHENOTYPICFEATURE$, was treated with RTX without either hematologic or renal response.	false
+76c3cecff69dcbab000ac50c516c0cb727c3befd	A 53 year-old-woman with @DISEASE$ developed oliguric @PHENOTYPICFEATURE$ after high doses of intravenous immunoglobulins.	false
+070f0ae1f463ebde7bb38cd52d15258cf692bf00	The association of solid @PHENOTYPICFEATURE$ with @DISEASE$ (ITP) is rare.	false
+4bfcc528636688fdca5ce42deebc88901433f484	Other features included @PHENOTYPICFEATURE$, malabsorption, joint hypermobility and dislocation, congenital hypothyroidism, @DISEASE$, and in one patient, autoimmune hemolytic anemia and hypogammaglobulinemia.	false
+d391f6c8aba049d10d2938e844e04a3f4d62ca8c	However, within a few days of the single dose of pembrolizumab, @DISEASE$ followed by pancytopenia, recurrent seizures, visual hallucination, and @PHENOTYPICFEATURE$ consistent with limbic encephalitis developed, which were not responding to steroid and intravenous immunoglobulin.	false
+08a2756bb1e04644ed7662ccdcdd86319a837c84	A case of an infant with compound heterozygous mutations for @DISEASE$ producing a phenotype of @PHENOTYPICFEATURE$.	false
+8c873f705f0bdcddca7583e8c564508e7a782f49	A de novo @PHENOTYPICFEATURE$ in alpha-tropomyosin that causes @DISEASE$.	false
+7edfa41c88f02a4f0d2daab337a0c738af65fd7a	Myopathy, apical @DISEASE$ and @PHENOTYPICFEATURE$ within the same family.	false
+e57a35e6b89cf0da7c741a645ba7151b0c5ce045	[One patient, one mutation and two cardiomyopathies - @DISEASE$ and @PHENOTYPICFEATURE$].	false
+bfb0ef632131c3b8fe6e3a7e114fa5e9649bf1b5	Prediction of mortality and serious @PHENOTYPICFEATURE$ in @DISEASE$.	false
+386aaa3c23d9bcf496c6a6f11ac9b2c3f256cdb9	Two different cardiomyopathies in a single patient : @DISEASE$ and @PHENOTYPICFEATURE$.	false
+44ba005ca603c15f46b98b81f26ab3b4e8c2739e	Moreover, @DISEASE$ with @PHENOTYPICFEATURE$ occurred.	false
+c073cc934155a2ee67c91f2ba836c200309f8727	[Juvenile neuronal ceroid-lipofuscinosis with @DISEASE$ and @PHENOTYPICFEATURE$: a case report].	false
+996332e97e034f5ba21d5a4775e8ad21d0ee73aa	Juvenile neuronal ceroid-lipofuscinosis with @DISEASE$ and @PHENOTYPICFEATURE$: a case report.	false
+43bc9322b28bb0663210ade541e8afaecf441282	[@PHENOTYPICFEATURE$ and late potentials in patients with @DISEASE$].	false
+e00765802d9bc3bfdd9694d0ba82ce3fae1ef14d	We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, @PHENOTYPICFEATURE$, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of @DISEASE$, a suspected ciliopathy.	false
+3b62bf58ece88cbf7d0faa8d416b7ac0dbb75280	We describe a boy with a molecularly confirmed @DISEASE$, clinically evident with congenital caf?-au-lait spots, bone fibrous dysplasia, hyperthyroidism, and renal phosphate @PHENOTYPICFEATURE$.	false
+50a8599e0d4b8275f1c773dd7d9a6224ec880e1b	Considering the results of @DISEASE$ and SAS, @PHENOTYPICFEATURE$ induces anxiety forwards vertigo, and thereby initiates a vicious cycle.	false
+2b417bd55531a353b24126138d50a84bf21b6050	We report our experience with duplex ultrasound in young patients with @PHENOTYPICFEATURE$ (RAS) or middle aortic syndrome (@DISEASE$) before and after surgery (1995 and 2009).	false
+7eb61d73c2e340c88b7f7fe4c541e9c9fb540dba	In all the cases, @DISEASE$ was simultaneous to the presentation of SLE in this article, we report a case of a patient with MAS who presented with @PHENOTYPICFEATURE$, rash, and high ferritin level up to 16911 ng/mL.	false
+8c794ee0db761b51ae6f11284a22107be90dbe7e	In all the cases, MAS was simultaneous to the presentation of SLE in this article, we report a case of a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$, rash, and high ferritin level up to 16911 ng/mL.	false
+a63e64afcea798662cc0ce12d20689bebb67e924	On the basis of the findings in these twins, together with those in previously reported familial cases of @DISEASE$, including two pairs of MZ twins, a 2-hit mutation hypothesis is proposed: a dominant @PHENOTYPICFEATURE$ may be inherited and leads to PFD in offspring as the primary defect of MAS; the second mutation may occur in somatic cell leading to mosaicism and thus resulting in MAS.	false
+50b5a733063f1acfdcdd9c19f12de69a2a8e30bf	On the basis of the findings in these twins, together with those in previously reported familial cases of MAS, including two pairs of MZ twins, a 2-hit mutation hypothesis is proposed: a dominant @PHENOTYPICFEATURE$ may be inherited and leads to PFD in offspring as the primary defect of @DISEASE$; the second mutation may occur in somatic cell leading to mosaicism and thus resulting in MAS.	false
+dc65233150dc23fb28837850c134e7b66176ff94	On the basis of the findings in these twins, together with those in previously reported familial cases of MAS, including two pairs of MZ twins, a 2-hit mutation hypothesis is proposed: a dominant @PHENOTYPICFEATURE$ may be inherited and leads to PFD in offspring as the primary defect of MAS; the second mutation may occur in somatic cell leading to mosaicism and thus resulting in @DISEASE$.	false
+3ecc6f460bd19ec4016864c06a0c623d94fd1fef	We present a 18 year-old woman with hypertension and @DISEASE$ coexisting with bilateral @PHENOTYPICFEATURE$ who underwent left renal artery angioplasty and than was followed-up for one year.	false
+2a3c4d3965fa3a952648f53c40fa1282a1d472b8	A 9-year-old boy presented with headaches and vomiting and was diagnosed with severe hypertension secondary to idiopathic @DISEASE$ affecting a long segment of the abdominal aorta and left @PHENOTYPICFEATURE$.	false
+140aed4ee2178be3e1adf58c656cc34610cde333	The patient being reported is an elderly female with Rheumatoid Arthritis (RA), who presented with @PHENOTYPICFEATURE$ and was found to have @DISEASE$.	false
+629e3d8729acf39c7ec6987faec66f51b2566665	We report the unique case of a boy with the diagnostic criteria of @DISEASE$ accompanied by atypical @PHENOTYPICFEATURE$ and macroorchidism without precocious puberty.	false
+e9040c9c5a31074e0f0bea9c597357f40d19dcc1	Milk-alkali syndrome (@DISEASE$), characterized by renal failure, metabolic alkalosis and @PHENOTYPICFEATURE$, is a severe and life-threatening complication of the treatment of hypoparathyroidism.	false
+2eba1013f93fb36b55bd670d9cba5f296fc442cd	Granulomatosis lesions occurring after diagnosis of primary or secondary immunodeficiency are not accidental and have been described in a small number of patients suffering from various diseases: common variable immunodeficiency (@DISEASE$), malignancy (lymphoma and solid @PHENOTYPICFEATURE$), and acquired immunodeficiency syndrome (AIDS).	false
+eebd492cf0a1fc48e48236f9489d19b8a0aaf718	Granulomatosis lesions occurring after diagnosis of primary or secondary immunodeficiency are not accidental and have been described in a small number of patients suffering from various diseases: @DISEASE$ (CVID), malignancy (lymphoma and solid @PHENOTYPICFEATURE$), and acquired immunodeficiency syndrome (AIDS).	false
+68dcb1030674e39e84e753c092b12d0da078c195	Myofibroblastic @PHENOTYPICFEATURE$ involving bilateral adrenal glands and skin in a patient with @DISEASE$.	false
+187d9b3ce961f85a2e6fb41427b3e478f0e53407	@DISEASE$ patients have a higher incidence of @PHENOTYPICFEATURE$, with a risk 12-18 times higher than the general population.	false
+dc1b772ab1d09bd56a7b7b065fc4f9a81a78599f	To describe adverse effects and to evaluate the frequency of @PHENOTYPICFEATURE$ secondary to ambulatory IVIg administration in patients with @DISEASE$.	false
+66c844658d73aa00ca3ece743d64c07d34dcd830	The occurrence of @PHENOTYPICFEATURE$ in the blood relatives of @DISEASE$ patients was not significantly higher than in the relatives of spouse controls.	false
+e75481226fcfd92a31203f6cc06a5a7f9ffea654	Two patients with @DISEASE$ (CVID) and malignant @PHENOTYPICFEATURE$ are reported.	false
+c2931939fd0f3719621986ca199ad424e3df2c34	Two patients with common variable immunodeficiency (@DISEASE$) and malignant @PHENOTYPICFEATURE$ are reported.	false
+2058215fc5bdf64663feee325806273b2996b7a9	To the best of our knowledge, this is the first reported case of @DISEASE$ associated with multiple solid @PHENOTYPICFEATURE$ and DLBCL.	false
+04addc420476a89ed84632e1b4509635f9f82dbd	We report the first published case of renal granulomatous disease in a @DISEASE$ patient presenting with subacute @PHENOTYPICFEATURE$.	false
+0f7eebc5d177df2170b632e9b1816dbdf444c607	A patient with @DISEASE$ in whom myofibroblastic @PHENOTYPICFEATURE$ affecting both adrenal glands and skin is presented.	false
+ad5c72afbe23a2a03121eea18cb7f94be1cfafe1	We reviewed the clinical and laboratory data and the treatments and their outcomes in all pediatric @DISEASE$ patients from our institution that developed a @PHENOTYPICFEATURE$.	false
+ba0202f5a0d848464e1e8e8a42398ff67c144d8d	These data confirm that 99Tc(m)-ECD brain SPET is sensitive in detecting hypoperfused areas in girls with @DISEASE$ that may be associated with @PHENOTYPICFEATURE$, even when magnetic resonance imaging appears normal.	false
+a5aab3449df6aaa3c2c216b7ee952b521c016164	The clinical presentation partly corresponds with @DISEASE$, considering clinical features as intellectual disability, hypotonia, and @PHENOTYPICFEATURE$, language, and motor development.	false
+1906ac9595866a50727590b7105c1a95f55e4804	Chronic treatment with the phytocannabinoid Cannabidivarin (CBDV) rescues behavioural alterations and @PHENOTYPICFEATURE$ in a mouse model of @DISEASE$.	false
+f67cefe4e43dbe8d83379144dd61471e805589a1	The same inheritance pattern has been proposed for @DISEASE$, Aicardi syndrome and @PHENOTYPICFEATURE$ with linear skin defects, but in these sporadic conditions, evidence of male lethality is lacking.	false
+86ec66b870190f7027c8d5877626bcc29d0c1aa2	Using functional behavioral assessment to study the effects of citalopram on the obsessive-compulsive verbalizations of a woman with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+73f9afc9dd5eea593b5758ff220d71971a997c02	Prader-Willi syndrome (PWS) is a genetic disorder characterized by @PHENOTYPICFEATURE$, appetite dysregulation, and a high risk for @DISEASE$ (OCD).	false
+16604cdb12402b8d4171b1fef02242537290c913	This report discusses the case of a young woman with a simple motor tic disorder and intractable @PHENOTYPICFEATURE$ who, after right temporal lobectomy for medically intractable epilepsy, developed TS with complex motor and vocal tics, severe @DISEASE$, and paranoia.	false
+772052c5ecb810c8020fb4249b9ba2782d2568e2	Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/@PHENOTYPICFEATURE$, cognitive impairments and psychiatric manifestations, such as @DISEASE$ (OCD).	false
+652c7fa867bb2b4860b064c4b074c8372771e9db	Psychiatric disorders such as schizophrenia, depression, and @DISEASE$ are associated with a considerably increased incidence of @PHENOTYPICFEATURE$.	false
+b8b802e2e8c148aa14c1c0404f5ce34ca88b6114	Double-blind studies of the efficacy of pharmacological agents that potently inhibit 5-HT uptake in the treatment of @PHENOTYPICFEATURE$ coexisting with Axis I psychiatric disorders (especially @DISEASE$) and autistic disorder are warranted.	false
+2a59f7b4e6786ec496382847f44b8a19a5c2bc8c	Parkinson's disease (PD), schizophrenia, and @DISEASE$ (OCD), as well as affective disorders coexisting with dementia, neurological disorder, or @PHENOTYPICFEATURE$, have also been reported to respond to C/MECT.	false
+3106acdc7d74b550cef6fd99ebae4c52e9c13ec2	In addition, no @PHENOTYPICFEATURE$, central spinal fluid leakage, or @DISEASE$ was observed.	false
+03a7454eb101c9e24cafd3804bb264ca9d299a9c	@DISEASE$ is an intellectual disability disorder characterized by @PHENOTYPICFEATURE$, brain malformations, and dysmorphic features in affected males.	false
+a4dbffe1f40967909ddec2c44e090bd8e1a0ef32	@DISEASE$ metastasis to sphenoid and cavernous sinus: An unexpected cause of @PHENOTYPICFEATURE$.	false
+695e3d2d3aa82c26a6924251ecec4e2f559a3831	Multiple RIPs are known to inhibit tumor cell proliferation through inducing apoptosis in a variety of cancers, such as breast cancer, @PHENOTYPICFEATURE$/lymphoma, and @DISEASE$.	false
+609705f64e304fc9416ea727cdb32db30c6a478c	@DISEASE$ (HCC) is frequently associated with visceral @PHENOTYPICFEATURE$.	false
+0585ceb571ad8a1f7f81ddc4a807266a58e6e846	This article summarizes manifestations of @DISEASE$ @PHENOTYPICFEATURE$, common obstacles to treatment, and practical HCC pain management.	false
+d7bf884d1bee95845893dcb6076952ff76124fd1	A 47-year-old man with a history of @DISEASE$ presented with three weeks of bilateral @PHENOTYPICFEATURE$.	false
+7915ff40c0c02ca4f14804435d439493c0e1bd90	@PHENOTYPICFEATURE$ and @DISEASE$ in Inhambane Province in Mozambique.	false
+13d9310dc8a6d5ed96c6a201565c73a433f3d978	Metastatic @DISEASE$ presenting as facial nerve palsy and facial @PHENOTYPICFEATURE$.	false
+82b9e026bb2c0c3a83a446eec1fdce9c148429cf	The most common malignancies among males were lymphoma/@PHENOTYPICFEATURE$, @DISEASE$, skin and stomach.	false
+f47849edbb8781f4fe7c715f23cd7137b61b6778	Cytotoxic effects of Coptis chinensis and Epimedium sagittatum extracts and their major constituents (berberine, coptisine and icariin) on @DISEASE$ and @PHENOTYPICFEATURE$ cell growth.	false
+616744b72fdfe631f5f77dc3098bd1cf33991f98	@PHENOTYPICFEATURE$ and atrial fibrillation associated with chronic hepatitis C infection and presumed @DISEASE$: a case report.	false
+e257d0fd6acf119e19136b8150ff85328e099646	[Giant @DISEASE$: a benign @PHENOTYPICFEATURE$ with a rare presentation].	false
+9676624d8d78811ba0d0b9b6bbdf7235df0c064d	Proliferating pilomatricoma is a benign @PHENOTYPICFEATURE$ and a rare variant of @DISEASE$ that has the potential for local recurrence if incompletely excised.	false
+9bd05149ba430a326401d8d706611950a3fa1460	Proliferating @DISEASE$ is a benign @PHENOTYPICFEATURE$ and a rare variant of pilomatricoma that has the potential for local recurrence if incompletely excised.	false
+becfed39481472e7c1e6c868959c909d7f5c01de	[@DISEASE$: a @PHENOTYPICFEATURE$ to know].	false
+9c4f3796f55add73390b0b821ae10ab94c00495b	@DISEASE$ is a common benign @PHENOTYPICFEATURE$ in children.	false
+d09280cb38edeecc4d4dbb20845c4737dc141edc	@DISEASE$: a @PHENOTYPICFEATURE$ with hidden depths.	false
+d9ebd0ac4cd593521393c9e02de4f416bf3dc270	@DISEASE$ is a benign, solitary @PHENOTYPICFEATURE$.	false
+cdeeb551979703f8aeedda3bcc1e69812513cb49	A @PHENOTYPICFEATURE$ in images: anetodermic @DISEASE$.	false
+6c651bc428375579fcf5f43aa99de848961c5701	Proliferating pilomatricoma is proliferative, rare @PHENOTYPICFEATURE$ variant of @DISEASE$.	false
+93223db336eff1d9447c32534293ee0926818315	Proliferating @DISEASE$ is proliferative, rare @PHENOTYPICFEATURE$ variant of pilomatricoma.	false
+6ee358903b8e2ef79022577aa7a37ce3c0bea868	@DISEASE$ is a benign @PHENOTYPICFEATURE$ of the cutaneous adnexa.	false
+99de61a08be178d3f39ef61a1b6433769eb50234	@DISEASE$-like testicular @PHENOTYPICFEATURE$ without teratomatous elements.	false
+a7fccb85a5e52ecb6cfa26b2508d0694c0b89dd1	In addition to HSCR, characteristic facial appearance (hypertelorism with strabismus and wide nasal bridge), @PHENOTYPICFEATURE$ with epilepsy, and severe physical and mental @DISEASE$ were found in all the patients.	false
+bf668bcf2c3ac6782063b690854c338e00816a03	Osteoarthritis (OA) is a very common disease, its prevalence increases with age and is a frequent cause of @DISEASE$.Osteoarthritis is characterised by @PHENOTYPICFEATURE$, stiffness and loss of range of motion.	false
+1bafc7bdaa915256350e04fa07a53325c47e65fa	Continuous spike and wave in slow-wave sleep in a patient with @DISEASE$ and in a patient with Lhermitte-Duclos syndrome and @PHENOTYPICFEATURE$ 1.	false
+029245bbaeb4d8e7181333379f8dcd60606ff4ed	Late-onset @DISEASE$: the spectrum of @PHENOTYPICFEATURE$ in 30 affected patients.	false
+4fa8637b7eead0ca8cb45e4460cacaa04771f6a4	Cervical @PHENOTYPICFEATURE$ are a relatively common finding in the warfarin embryopathy and in the related @DISEASE$.	false
+cff30dc944e7b7eb3458dff3d467b7841f3bf4a3	Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, @DISEASE$, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and @PHENOTYPICFEATURE$-jaw tumour syndrome).	false
+0129d3d3d1c2a040d87f3240d33eaa526950b121	First, the patient presented diffuse @PHENOTYPICFEATURE$, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and @DISEASE$, the patient was then diagnosed with PGA-II.	false
+bac28028a23d134b8916848d2173689eabf395c7	Microsatellite markers were tested in the vicinity of the gene loci for insulin-like growth factor-1 (IGF-1), @DISEASE$, autosomal-dominant hypertension with @PHENOTYPICFEATURE$, angiotensinogen, angiotensin II type 1 receptor, angiotensin-converting enzyme, renin, and lipoprotein lipase.	false
+6558989df260bb391d5a8328718c19b03dedbf4e	Recurrence of @DISEASE$ - a rare @PHENOTYPICFEATURE$.	false
+b7fde11521e066caabf6b512b2f1b0ca51195ea4	A search in the database at the International @PHENOTYPICFEATURE$ Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, Kniest dysplasia and @DISEASE$.	false
+f2a5dabda9bfd9fcea73cd52766275a8734166ea	Besides the characteristic mesomelic @PHENOTYPICFEATURE$ of @DISEASE$, this patient exhibited two additional features: agenesis of the cerebellar vermis and cataracts, both of which have not been previously reported.	false
+caf5d573781ebfa15657f835a197093481c7740f	Physical examination revealed psychomotor and growth retardation, @PHENOTYPICFEATURE$ and brachydactyly, suggestive of @DISEASE$-like phenotype.	false
+cce0c2220d9f13e8794f56471c0dd222c7e314e9	Compared to the non-fatigue group, the PSF patients were more likely to be women and had @PHENOTYPICFEATURE$, lower BI and higher @DISEASE$ scores.	false
+738e24a574b7b6c8094d47de7de890eb6c5c3bd1	We report a juvenile patient with @DISEASE$, @PHENOTYPICFEATURE$ and delayed onset of puberty.	false
+43212bab15e95fe599d9b4ea3b1b762a6ddc659e	Special mention deserve the particular cases of malabsorption syndromes that appears in: acrodermatitis enteropathica, @DISEASE$, Whipple disease, Cronkhite-Canada syndrome, dermatogenic enteropathy and abnormalities that occur as complication from the surgery treatment for @PHENOTYPICFEATURE$ improvement.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+562152b8d1b14abc917bef7baaab94dad20d30c8	These serologic markers have been detected, in recent advances, new clinical presentations for coeliac disease: not only typical gastrointestinal symptoms (diarrhea, recurrent abdominal pain, etc), but many atypical symptoms have been described: sideropenic anemia, short stature, @PHENOTYPICFEATURE$, @DISEASE$, small alterations, alopecia, etc.	false
+a514e94b2c8681b931170fe393d604fbf9c48571	but the proportions of weight loss, @PHENOTYPICFEATURE$, iron deficiency anemia and @DISEASE$ in Asian group were significantly higher than that in Caucasian group (P<0.05).	false
+0c0139745b9f57c8de8d18726c856add7d3631f0	Topics covered include: upper gastrointestinal haemorrhage; Barrett's oesophagus; carcinoma of the oesophagus; achalasia; Helicobacter pylori; duodenal ulcer prevention; coeliac disease; @DISEASE$; Crohn's disease; small bowel overgrowth; ulcerative colitis; carcinoma of the large bowel; @PHENOTYPICFEATURE$; endoscope sterilisation; gall stones; liver transplantation; autoimmune liver disease; viral hepatitis; metabolic liver diseases; and pancreatic insufficiency.	false
+fee758c8669e519a509e61943007d58b3462b57d	Topics covered include: upper gastrointestinal haemorrhage; Barrett's oesophagus; carcinoma of the oesophagus; achalasia; Helicobacter pylori; duodenal ulcer prevention; coeliac disease; @DISEASE$; Crohn's disease; small bowel @PHENOTYPICFEATURE$; ulcerative colitis; carcinoma of the large bowel; obesity; endoscope sterilisation; gall stones; liver transplantation; autoimmune liver disease; viral hepatitis; metabolic liver diseases; and pancreatic insufficiency.	false
+0fde0619689b974aa784fb3efebbebd928db69e9	The theory is supported by numerous independent data from the literature, and provides a mechanistic link with otherwise unrelated disorders, such as cleft lip and palate, thyroid dysfunction, restless legs syndrome, depression, ataxia, hearing loss, fibromyalgia, @DISEASE$, schizophrenia, toxoplasmosis, anemia, osteopenia, Fabry disease, Barret's adenocarcinoma, neuroblastoma, urinary incontinence, recurrent miscarriage, @PHENOTYPICFEATURE$, reduced risk of breast cancer, stiff person syndrome, etc.	false
+40bead4f5ce83eb561e8408bf763830332a691e1	Abbreviations: AGA: anti-gliadin antibodies; Anti-DGP-ab: anti-deamidated gliadin peptide antibodies; Anti-tTG-ab: anti-tissue transglutaminase antibodies; ATD: auto-immune thyroid disorders; BMD: bone mineral density; CD: coeliac disease; DH: @DISEASE$; EMA: anti-endomysial antibodies; FDR: first-degree relatives; GFD: gluten-free diet; HbA1c: haemoglobin A1c; HLA: human leucocyte antigen; IBS: irritable bowel syndrome; LMIC: low- and middle-income countries; NPV: negative predictive value; NRCD: non-responsive coeliac disease; POCT: point-of-care tests; SDR: second-degree relatives; SIBO: small intestinal bacterial @PHENOTYPICFEATURE$; T1DM: type 1 diabetes mellitus; ULN: upper limit of normal.	false
+1d9b86e1c8dd45ab34e52da6a9d34887ecf3490e	@DISEASE$x severe @PHENOTYPICFEATURE$ or hypertriglyceridemia, SFAP dtto 3x.	false
+a4592899d9b41032c78767390cef20d57a2de5a5	@DISEASE$ is among the rarest @PHENOTYPICFEATURE$ of childhood.	false
+1dc81a553282b2a698a3744f031ce602b1331e47	Great vessel/cardiac extension and @PHENOTYPICFEATURE$ embolism in pleuropulmonary blastoma: a report from the International @DISEASE$ Registry.	false
+107051b943beb2c1d191435cf58e07edcac2b771	Great vessel/cardiac extension and @PHENOTYPICFEATURE$ embolism in @DISEASE$: a report from the International Pleuropulmonary Blastoma Registry.	false
+6fc2d8ccb3a57a5f24ea72d3325619392ef01e8b	@DISEASE$ in adolescence: A rare @PHENOTYPICFEATURE$ beyond first decade of life.	false
+b455c6225b9618bce5d5c0ef9b6d56cbc736ba6e	There were two cases of @PHENOTYPICFEATURE$, namely @DISEASE$.	false
+1b6f5ef024cbc89afd46369793f4f614ae7ba70e	A rare @PHENOTYPICFEATURE$ masquerading as an empyema: @DISEASE$.	false
+485e6229d66ea4a2d4d34f6427d767c505228cdd	In infants, @DISEASE$ is a rare but aggressive @PHENOTYPICFEATURE$.	false
+1e07de45d8dad701842df39cc885aac372c781a6	@DISEASE$ is a rare unilateral intrathoracic @PHENOTYPICFEATURE$ of childhood.	false
+43d08a2ddbf23419ab316b39a9fdba0b02a65a4e	@DISEASE$ (PPB) is a rare @PHENOTYPICFEATURE$ of mesenchymal cells.	false
+0f135599a5df744aee933f6aa8992cfd8c32efd8	@DISEASE$ is an extremely rare and aggressive thoracic @PHENOTYPICFEATURE$ seen exclusively in children.	false
+2cdbabd1ccc797d84ce1baeb2b010b0aea4eae82	Our series identified four potential new associations with PMD: placental triploidy mosaicism, CHARGE syndrome, fetal @DISEASE$ and fetal @PHENOTYPICFEATURE$.	false
+5499ee30d0d56928b5edac5040793cc6b0eb8e7c	@DISEASE$ presents with a spectrum of clinical features including craniofacial, ocular, dental, and @PHENOTYPICFEATURE$.	false
+7e905d7dfe292ef92889a42922e8bb5954e890ae	@PHENOTYPICFEATURE$ with neuropathy and vestibular areflexia syndrome (@DISEASE$).	false
+a6a1a8f4dc8d63780f90c9fb29bc9d6bfa786d2c	To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$), a novel @PHENOTYPICFEATURE$ comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit.	false
+8db89cc8e8031adf4dea4869da510db14a409329	To elucidate the neuropathology in @DISEASE$ (CANVAS), a novel @PHENOTYPICFEATURE$ comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit.	false
+57aaf988d9552861a92384c6409d445f96a02437	@DISEASE$ (CANVAS) is a multi-system @PHENOTYPICFEATURE$ which results in cerebellar ataxia, a bilateral vestibulopathy and a somatosensory deficit.	false
+8d0cbccd2be2865dd407b6da82f77a9f6fcf4ed0	@DISEASE$ (CANVAS) is a multi-system ataxia which results in @PHENOTYPICFEATURE$, a bilateral vestibulopathy and a somatosensory deficit.	false
+03551c9e499ffb2d70fc4ea300340eecf24b65c7	Peripheral nerve ultrasound in @PHENOTYPICFEATURE$ neuropathy vestibular areflexia syndrome (@DISEASE$).	false
+5dc6172eb24040fbf663668682885f646b0ce281	Autonomic dysfunction is a major feature of @PHENOTYPICFEATURE$, neuropathy, vestibular areflexia '@DISEASE$' syndrome.	false
+cb7da8bb268d8f603e1df0c7f440de49c883bb60	[@PHENOTYPICFEATURE$ with neuropathy and vestibular areflexia syndrome (@DISEASE$): a case report].	false
+e4e1acfd2b8b75681db217f809f1ed80c390b5e8	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$) is a recently described multisystem @PHENOTYPICFEATURE$ defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit.	false
+d00668523b98da99468ac20fdaac40108d006a71	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$) is a recently described multisystem ataxia defined by the presence of @PHENOTYPICFEATURE$, bilateral vestibulopathy, and a somatosensory deficit.	false
+3604b732e133b045a2d7b37fde222caf1fde3915	@DISEASE$ (CANVAS) is a recently described multisystem ataxia defined by the presence of @PHENOTYPICFEATURE$, bilateral vestibulopathy, and a somatosensory deficit.	false
+7bc8ccff0b57addadbc69a52a7ec10b4c8330b92	@DISEASE$ (CANVAS) is a recently described multisystem @PHENOTYPICFEATURE$ defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit.	false
+b69772f6803437a8dbceafcaca98c86526c321e9	VEMPs in a patient with @PHENOTYPICFEATURE$, neuropathy and vestibular areflexia (@DISEASE$).	false
+a951cc9fee637711e629a2fa00b471a9815b3779	@DISEASE$ (CANVAS) is a novel @PHENOTYPICFEATURE$ disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit.	false
+ce9cf336bd95db02fc2c509591ddde58335041a3	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (@DISEASE$) is a novel @PHENOTYPICFEATURE$ disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit.	false
+2e7e9d83167a19db1e602a30605845a284a6d0a1	Proposed diagnostic criteria for @PHENOTYPICFEATURE$ with neuropathy and vestibular areflexia syndrome (@DISEASE$).	false
+ce71aaffecffb517978fd69164a3a33f9c3b7f32	[Acquired @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6a9cad3b4d965ed3315ce11a0e18a7f3d4533130	In Japan, phase II trials studying the thrombopoietic effect of IL-11 in patients with solid @PHENOTYPICFEATURE$ postchemotherapy, in patients undergoing BMT, and in patients with aplastic or @DISEASE$ are now under way.	false
+bcf5d7a84997132fef0559e2b17ddf2ff9e92ea5	In 2016, the World Health Organization (WHO) proposed elimination of "@DISEASE$" in a more general proposal for reclassification of myeloid @PHENOTYPICFEATURE$.	false
+3e13aa73ccdf38fc29117b8bfa9c9b6e88253006	The neoplasms were diagnosed as: 10 hemopathies (including 4 cases of @DISEASE$) and 5 solid @PHENOTYPICFEATURE$ (1 patient had 2 tumors).	false
+aaa547cd9077634bc624fccb91dda441285c65ea	The neoplasms were diagnosed as: 10 hemopathies (including 4 cases of @DISEASE$) and 5 solid tumors (1 patient had 2 @PHENOTYPICFEATURE$).	false
+c9bc2d6482488ec642ec09f47805c3215502ad8c	Carnitine deficiency has been reported to cause erythropoietin @DISEASE$ in chronic hemodialysis patients and thrombocytopenia or leukopenia of cirrhosis, and carnitine supplementation can improve hematopoiesis in patients with hepatic or @PHENOTYPICFEATURE$.	false
+e67dc8cbb3bd2138b9dd0b50d96244a09bbb686e	The frequencies of chromosome 9 abnormalities in children with hematological @PHENOTYPICFEATURE$ have constituted: 25/112 in acute lymphoblastic leukemia (ALL), 10/83--in acute myeloid leukemia (AML), 3/20--in @DISEASE$ (RA).	false
+152d773c6eb1fb1c9c86425894ab1a5172a8f3d3	@DISEASE$ leading to renal hemosiderosis and @PHENOTYPICFEATURE$.	false
+b171fd7eca879a347256d10a044eed6fb7c645ab	The cytological and cytogenetic features of six patients with myeloid @PHENOTYPICFEATURE$ and t(6;9)(p23;q34) including a case of acute myelofibrosis (AMF), a @DISEASE$ with excess of blasts (RAEB), and four cases of acute nonlymphocytic leukemia (ANLL) are described.	false
+475f848ead6ddac3fb0bb5c7b7c76ae43e545f81	Linc-ROR has been shown to be dysregulated in many types of cancers, including @PHENOTYPICFEATURE$ (BC), pancreatic cancer (PC), @DISEASE$ (HCC), endometrial cancer (EC), and nasopharyngeal carcinoma (NPC).	false
+c2df24730e05acbfe28cdaead474cdd6f61e3889	CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, @DISEASE$, @PHENOTYPICFEATURE$, and hypocalcemia.	false
+371f474a481e111f3ce4961de958c19b3ba1c253	CATCH 22 is an acronym for cardiac defect, abnormal facies, @PHENOTYPICFEATURE$ or aplasia and T-cell deficiency, @DISEASE$, hypoparathyroidism, and hypocalcemia.	false
+5cabc13416228321ee8a8317e985d9d6c5e9f639	Palatomandibular and maxillo-mandibular fusion, partial @PHENOTYPICFEATURE$ and @DISEASE$ in a human embryo.	false
+40539c0c6e5bb9d094c4ad66a157d9b9b8d89b7a	Characteristic features include @DISEASE$, conotruncal heart malformations, thymus hypoplasia, @PHENOTYPICFEATURE$, a characteristic facial phenotype and learning difficulties.	false
+e1eb99563a8e1f14296d46188c486ddae23a3e88	Characteristic features include @DISEASE$, conotruncal heart malformations, @PHENOTYPICFEATURE$, hypoparathyroidism, a characteristic facial phenotype and learning difficulties.	false
+70ceedf4a99792c20d23ca6793e252b3f8788cc4	"CATCH 22" sans cardiac anomaly, @PHENOTYPICFEATURE$, @DISEASE$, and hypocalcaemia: cAtch 22.	false
+b44266160806ec0300ff72febf3fb8b159467920	However, other laboratory examinations revealed no cardiac anomaly, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+22576e2f3f0e91abdd6b5613ee4f0d1c4eeca904	A large number of clinical findings have been reported in affected patients, including cardiac defects, characteristic facial features, thymic hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$, learning difficulties and psychiatric disorders.	false
+3859dc20faf72fbea4bb7ef0452bf755048a7dc1	A large number of clinical findings have been reported in affected patients, including cardiac defects, characteristic facial features, @PHENOTYPICFEATURE$, @DISEASE$, hypoparathyroidism, learning difficulties and psychiatric disorders.	false
+d18dee6d7ca1ad4d12d3be20e8401007325f5b4b	This report refers to a 10-month-old girl with @DISEASE$, @PHENOTYPICFEATURE$, oligopolydactyly, and fibular aplasia.	false
+f39e3698d54be6e968bc10b1864b2862b6e6874d	This is a congenital disorder characterized by facial dysmorphic features, cardiac defects, thymic hypoplasia, @DISEASE$, @PHENOTYPICFEATURE$, and psychiatric disorders.	false
+1f88807edba34774a767798a3234d0b4e0ee31ee	This is a congenital disorder characterized by facial dysmorphic features, cardiac defects, @PHENOTYPICFEATURE$, @DISEASE$, hypoparathyroidism, and psychiatric disorders.	false
+b1809242dc35a80bf652f747370c39cea52edac1	Types of malformations included @DISEASE$, exencephaly, @PHENOTYPICFEATURE$, and hemorrhage.	false
+a91b564b37672a12f7779e225b76cb25051216ca	[Congenital @PHENOTYPICFEATURE$ (clubfoot, torticollis, @DISEASE$)].	false
+e7aa5e353a3f7a86638b0cb57aa6a81778dc7b7b	The same findings were observed in human liver specimens of cholestasis in which high levels of ?-glutamyl transpeptidase were documented in patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+815f6443bfa1b255b5df9163b0aaed5ff5fcb344	We present a female case with congenital cataracts, severe @PHENOTYPICFEATURE$, sensorineural hearing loss, and renal tubular dysfunction as @DISEASE$.	false
+ebfd56dfcd4987ec2bd65ee97adbc8ebef839cd3	Affected children may have some of the extra-renal symptoms of @DISEASE$, such as peripheral cataracts, @PHENOTYPICFEATURE$, stunted growth or elevation of creatine kinase/lactate dehydrogenase, blurring the distinction between those two clinical entities.	false
+62f9a8ef0d0fd90d5628263fe335d9745660ff5a	The oculocerebrorenal disorder of @DISEASE$ is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (OCRL), characterized by the triad of congenital cataracts, severe @PHENOTYPICFEATURE$, and renal tubular dysfunction.	false
+0380895b35c89f15d61f15e5afac5bac87a863c1	The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (@DISEASE$), characterized by the triad of congenital cataracts, severe @PHENOTYPICFEATURE$, and renal tubular dysfunction.	false
+4c1611686ecf359c373771ff813a5e55e4f62c76	We report a 22-year-old male with a severe form of @DISEASE$ syndrome, diagnosed on the basis of congenital cataracts, severe psychomotor and @PHENOTYPICFEATURE$, and renal tubular dysfunction without Fanconi syndrome.	false
+9e386dca5e691285980c9cb4e86e1bd88b4f8453	@DISEASE$ (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	false
+4738c97788ea34376e94f4c6fe2fe35f9321bd15	Oculocerebrorenal syndrome of Lowe (@DISEASE$) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	false
+9af91601ff2bc1f36f1bcfb731131411cf2e7d50	@DISEASE$ is an X-linked inherited disorder diagnosed by congenital cataracts, @PHENOTYPICFEATURE$, and renal tubular dysfunction.	false
+b823344577d68aa08985b104201262ae38a2dde0	Patients may have some extra-renal symptoms of @DISEASE$, such as peripheral cataracts, @PHENOTYPICFEATURE$, stunted growth or elevation of creatine kinase/lactate dehydrogenase.	false
+47840faaf99f50ff2dd8e42798e3f6fbb19cb0eb	@DISEASE$ with @PHENOTYPICFEATURE$: a possible variant of OCRL?	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+1751c7177fba592394b5d683f6d1a1613d045af0	Bones and Crohn's: estradiol deficiency in men with @DISEASE$ is not associated with @PHENOTYPICFEATURE$.	false
+73f2d774066dd601b61c2bd1981d6290020ed805	We present the clinical and laboratory findings and describe the clinical course of a patient who had @PHENOTYPICFEATURE$ during @DISEASE$ exacerbations.	false
+0a97d663bbd93dc52bcf7e61ab81ef673a653930	MMR vaccine is not linked to @DISEASE$ or @PHENOTYPICFEATURE$.	false
+63bf556ac5815604e338861f37849bf6a01e6b0d	@DISEASE$ (CD) is associated with @PHENOTYPICFEATURE$.	false
+2a61250e39d409b03aaafac428d3f905a21867ca	As a first attempt, we applied the proposed method to four different types of diseases: hypertension, diabetes mellitus, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3073f4234d6f73572361e7783184446cfad86b4a	There is evidence to suggest that the inflammation associated with @DISEASE$ (CD) impacts the bone health of patients, predisposing them to early onset @PHENOTYPICFEATURE$ and increasing their risk of fracture.	false
+68257a445ea2339673b8e41ccd6c88017ac9ff6e	One of eight patients with @DISEASE$, one of three patients with ulcerative colitis, and three of nine children with @PHENOTYPICFEATURE$, were positive.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+df1cf3337872ae5df6af167c40d460a35035940d	These copy number variations (CNVs) have a role in various diseases such as Alzheimer disease, @DISEASE$, @PHENOTYPICFEATURE$ and schizophrenia.	false
+9743936fbd4a90dce7753bc8746f97a2bf1b3d44	Children with @DISEASE$ frequently have musculoskeletal problems such as joint hyperlaxity, hypotonia, @PHENOTYPICFEATURE$, and scoliosis.	false
+a2e3cbb08dd4545fc405ff00cb42170f0a2fdd11	@DISEASE$ (PWS) is a rare genetic syndrome leading to severe behavioural disorders and mild @PHENOTYPICFEATURE$.	false
+a71461618a7ee966f42057952aff4e4a204ae3e3	@DISEASE$ is generally characterised by @PHENOTYPICFEATURE$, behavioural abnormalities, and hyperphagia.	false
+1f180bea4c5496c89981c326978505cdf28a5a5a	@DISEASE$ (PWS) is characterized by infantile hypotonia, hypogonadism, small hands and feet, distinct facial features and usually @PHENOTYPICFEATURE$.	false
+cf6371393082e17f34efea2123cfb0d465bda79d	In summary, we found that patients with @DISEASE$ have profound learning disabilities and @PHENOTYPICFEATURE$, greater than expected for their IQ.	false
+ea82d237a4f83f6b6f094d0d86421408293a5a94	@DISEASE$ (PWS) is a genetic disorder characterized by extreme obesity accompanied by other, multisystem clinical manifestations encompassing both physical and behavioral/@PHENOTYPICFEATURE$.	false
+0eeef3a882c68d8743205eca5de9170d500654cd	Reduced cortical complexity in children with @DISEASE$ and its association with @PHENOTYPICFEATURE$ and developmental delay.	false
+ea1dc374d7f28b8614dc283cb785e45d7380e86c	@DISEASE$ (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental @PHENOTYPICFEATURE$, stereotyped behaviour, impulsiveness, etc.	false
+c3a06604dc72ac2cee3aaf866be7a08f76a33a5d	The latter two of these genes have been involved in @DISEASE$ (PWS), which includes hyperphagia, repetitive and compulsive behaviors, and @PHENOTYPICFEATURE$.	false
+83dc5c39266f67ddedec0091031ef488ce4efad6	@DISEASE$ (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, @PHENOTYPICFEATURE$, and dysmorphic facies.	false
+c5fa9a19bc6ff728fe638fb0c6b011caa7272519	[Reynold's syndrome associating @DISEASE$, telangiectasia @PHENOTYPICFEATURE$, and in one case, hemolytic anemia and Gougerot-Sj?gren syndrome.	false
+2f2917f9aa806874845ad66522e369dfdab0131d	The association of @DISEASE$ and a @PHENOTYPICFEATURE$ of the CREST variation is called Reynold's syndrome.	false
+a65f241b97142b64121577cc7021d14eba762634	The aim of this paper is to describe the case of a 46 year old man diagnosed with @DISEASE$ in stage I-II and a progressive @PHENOTYPICFEATURE$ (axonopathy) confined to his upper limbs with distal predominance.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+c57b22a79195a4e2ceecb926baf6d9a152621036	@PHENOTYPICFEATURE$ and atherosclerosis in @DISEASE$: what is the risk?	false
+bc023663f5dd1ccecf911ae379f959425974aa6a	This study was stimulated by a patient with @DISEASE$, marked @PHENOTYPICFEATURE$ and cardiac problems.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+4ad01836cbf4aeaef8fc7453f1b36f09e257d3ef	A 45-yr-old woman with @DISEASE$, xanthomatosis, and marked @PHENOTYPICFEATURE$ developed symptoms of the hyperviscosity syndrome on three separate occasions.	false
+8cb90703823319a906cd1c97f66ce90ff8a7c64c	In normocholesterolemic patients with @DISEASE$, lathosterol was significantly lower than in normocholesterolemic controls (P < 0.05) whereas no difference was found between hypercholesterolemic patients and @PHENOTYPICFEATURE$ controls.	false
+043e06aa56a7d04e2034eaedb73e354441d67be3	@DISEASE$ (PBC) may associate an axonal neuropathy, a somatic and autonomic neuropathy and a very infrequently @PHENOTYPICFEATURE$ (with or without xanthomata).	false
+575cd72357e57a61bda4c484647ac74212507b43	Cushing syndrome, @DISEASE$, an androgen producing adrenal @PHENOTYPICFEATURE$, and elevated plasma DHEAS due to an increased renal threshold were excluded.	false
+b99371b1e5b23a954682b1fcf061a9c68e898bd1	This study demonstrated that 4.5% of @DISEASE$ patients had chorea, predominately before PAPS diagnosis, and this @PHENOTYPICFEATURE$ was associated with rheumatic fever and thrombocytopenia.	false
+9e8b9026490b8215f28722a8cde9185f3403ddac	Mice deficient for the Fanconi anemia complementation group A (Fanca) or @DISEASE$ (Fancc) gene seem to be diabetes-prone, as manifested by significant @PHENOTYPICFEATURE$ and hyperinsulinemia, and rapid weight gain when fed with a high-fat diet.	false
+e798475aa65b1489c9f5061c081ffcbf45175a48	@DISEASE$ is a very rare genetic disease of the bone characterized by osteocondensation associated with dysmorphic syndrome and @PHENOTYPICFEATURE$.	false
+4867aee17660bea07a9b8fd28023ff936e117f96	Several genetic diseases of unknown etiology have been mapped to this region, including hereditary sensory neuropathy type 1, self-healing squamous epithelioma, split-hand/@PHENOTYPICFEATURE$ type 1, and @DISEASE$.	false
+37413ea5a254782893f4900d2a837ba5412efc99	A @DISEASE$ associated with @PHENOTYPICFEATURE$ and hip-spine disease.	false
+ee02d156845fc1399c9463e07158a922055b5549	@PHENOTYPICFEATURE$ are consistent findings in patients with the oral-facial-digital syndrome type VI (V?@DISEASE$ syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet.	false
+87472fa75d7e84289c909919bfe0538585e5e067	Indications were @DISEASE$ longitudinal deficiency (8 patients), neonatal ischemic @PHENOTYPICFEATURE$ (2 patients), and septic growth arrest (1 patient).	false
+37bb20b7a06097b717e2ac76fc9eafcb69dffa9b	@DISEASE$ @PHENOTYPICFEATURE$ excision may prevent recurrences.	false
+dec6c57afcee904175c6c92bda08a8f56c9b095a	@DISEASE$ @PHENOTYPICFEATURE$ resection was performed on seven patients.	false
+47ffb19723792eadfaea8ad3fb748fbc289d055c	V?@DISEASE$ syndrome, designated OFDS type VI, is a rare disorder that is additionally characterized by @PHENOTYPICFEATURE$.	false
+959438d9aa603046faffd4afe1f5cc0dca4599bf	We report a fetus with micrognathia, @PHENOTYPICFEATURE$, polysyndactyly, brachycephaly and proximal @DISEASE$ hypoplasia.	false
+5758621bb4946440485682b943809cf7ae66abc6	In addition to craniosynostosis and @DISEASE$ deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, @PHENOTYPICFEATURE$ and orodental manifestations.	false
+e69900e978aa5995f94a5e284932bc50b80ad0d1	? @DISEASE$ @PHENOTYPICFEATURE$ nephrectomy was performed in all cases.	false
+2b57e08a3392f4ede7e84b4f07a2f8fc934cbf56	@DISEASE$ @PHENOTYPICFEATURE$ excision was indicated.	false
+c8615ca1e6a426f33c6a8b3b0a535e69ed3b2699	Custom prosthetic replacement for distal @DISEASE$ @PHENOTYPICFEATURE$.	false
+d0e0c7740fd0ac2990e657fef4c97bf3d4c4236b	A 72-year-old female who had suffered from lower extremity @PHENOTYPICFEATURE$ and liver cirrhosis due to @DISEASE$ with massive thrombus in IVC was treated by PTA and placement of self-expandable metallic stent.	false
+6dc8d7297ecb30df7fda5d410df3854e374a430e	IVC leiomyosarcomas arising below the renal vein cause pain in the right-lower quadrant, back, and flank, and varying degrees of lower extremity @PHENOTYPICFEATURE$; those arising in the middle caval segment cause right-upper-quadrant pain and sometimes renovascular hypertension; those arising above the hepatic vein cause varying manifestations of the @DISEASE$.	false
+dcc8f41bf4523374cec5ab42cf1275df6552060c	Obstruction of the hepatic veins led to the development of the @DISEASE$, ascites, and crural @PHENOTYPICFEATURE$.	false
+9ffe9f2eec28ca2830b063e79e092bb249009940	@DISEASE$ presents with ascites, @PHENOTYPICFEATURE$ and bleeding from esophageal varices.	false
+e4dcdec0d2e443624a227c604f6a92fb7de97bc9	A 47-year-old man was diagnosed with primary antiphospholipid syndrome and @DISEASE$ (membranous complete obstruction of the intrahepatic inferior vena cava), with @PHENOTYPICFEATURE$ and ascites refractory to medical treatment.	false
+fd45732044cd46a43077b2e72badbbf7ccfdde21	A 66-year-old man with ascites and marked @PHENOTYPICFEATURE$ in the lower extremities was suspected of having secondary @DISEASE$ due to primary liver cancer, based on imaging diagnosis, i.e., ultrasonography, computed tomography, and inferior venacavogram.	false
+f79d9d09208368cbeea1c183f960fc7fef1a2045	A young adult patient, in whom 20 years previously a secundum atrial septal defect had been closed surgically, presented with symptoms of a @DISEASE$, cirrhosis of the liver, ascites, and @PHENOTYPICFEATURE$ of the lower legs.	false
+e57752452baaa1ddb23a440ef550fd0a9efa0e85	Both patients presented with debilitating @PHENOTYPICFEATURE$ of the trunk and lower extremities and varying degrees of hepatic venous obstruction resulting in @DISEASE$.	false
+e71eb647ef89ea5dfbc654afe32623ebef6eccce	The clinical symptoms depend on tumor location, with intraluminal tumors of the inferior caval vein causing @PHENOTYPICFEATURE$ or a @DISEASE$.	false
+edf86d64b2a765f711c3670ca8f4da5bd8a7e670	In this series, lymphopenia and @PHENOTYPICFEATURE$ were more severe in SARS than in M. pneumoniae infection, and @DISEASE$ patients had more persistent and more new pulmonary infiltrates after hospitalization.	false
+8523b0e956c929e25d1580fbd898f2677f075800	The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and @DISEASE$, an isolated @PHENOTYPICFEATURE$ with myelin outfoldings, respectively.	false
+33f667fc2c107e51c50c84c609aaef19cabd565e	We describe two patients with Pallister-Hall syndrome (@DISEASE$), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic @PHENOTYPICFEATURE$ and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	false
+c023bb026c825e07a3c9b2d123fa8e037c6c54bb	We describe two patients with @DISEASE$ (PHS), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic @PHENOTYPICFEATURE$ and the previously unreported fibular hypoplasia, radio-ulnar bowing, and proximal epiphyseal hypoplasia.	false
+caf194923c257f07a160d429eeff5eba10707ed3	Although nonspecific endoscopic findings of @DISEASE$-associated colitis have been reported before, our observation of brownish dots spread across a yellowish @PHENOTYPICFEATURE$ mucosa, termed "leopard sign," could be a unique feature of this condition.	false
+249c7d026d6caafadb17711f99c46939a907effa	Chronic granulomatous disease (@DISEASE$) may present with granulomatous colitis, perianal abscesses, hepatic abscesses or granulomas, @PHENOTYPICFEATURE$, and obstruction of the gastrointestinal tract (including esophageal strictures and dysmotility, delayed gastric emptying, and small bowel obstruction).	false
+a26b5876340989d9884dc03c0acaf6d5e0aefc87	@DISEASE$ (CGD) may present with granulomatous colitis, perianal abscesses, hepatic abscesses or granulomas, @PHENOTYPICFEATURE$, and obstruction of the gastrointestinal tract (including esophageal strictures and dysmotility, delayed gastric emptying, and small bowel obstruction).	false
+01a0ff12a52938e128d3edb3f153c4d17e5900b0	@DISEASE$ granulocytes and PMA did not cause @PHENOTYPICFEATURE$ in isolated lungs (delta lung weight 1.0 +/- 0.2 g and lavage albumin 12 +/- 5.0 mg/dl) whereas granulocytes from normal human subjects and PMA did (delta lung weight 43 +/- 5.2 g and lavage albumin 1,120 +/- 54 mg/dl).	false
+f7de7951ca7d42b5b3a128394926aee5fc8d2c26	Mutations in Hoxa13 cause malformations of the appendicular skeleton and genitourinary tract, including digit loss, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dfe04f36a59a3e3dfe1b206ae75c500d78bfba3a	The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or @DISEASE$; mental retardation; autistic behavior; and @PHENOTYPICFEATURE$.	false
+968663c26fa8adf10732a276014745742cb34c84	The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or @DISEASE$; @PHENOTYPICFEATURE$; autistic behavior; and seizures.	false
+279c69143b71e7080808a9257a6f3d7a8b89bae6	A new @DISEASE$-@PHENOTYPICFEATURE$ syndrome in three brothers.	false
+c6b8f3a0b15e499c8062d810322da313e63b463d	@PHENOTYPICFEATURE$ and @DISEASE$: a non random association or an X-linked recessive condition?	false
+dfe8bef173f6fb59c7383f147a6f6cfc3d79fb9d	A review of the scientific literature underlines particular rarity of the association of MSK with developmental @PHENOTYPICFEATURE$ and genital tract such as @DISEASE$ and bilateral cryptorchidism.	false
+fe451c434eccceecbb5d5b5382e71ade388d08c4	Cape Malay @DISEASE$/@PHENOTYPICFEATURE$ syndrome.	false
+34a25a21deed6440a52b3a68b2ea747ec49a936f	Antipropulsives produced a signal for @PHENOTYPICFEATURE$ while the literature revealed a signal for @DISEASE$.	false
+6b4cee902820ce95890878cc0cbb8316cfee1678	A case of prepenile scrotum associated with @DISEASE$ and @PHENOTYPICFEATURE$ is reported.	false
+bd96e2caacc45a73a71594a815bb52964e793a57	Some authors report that the general characteristics of this disease are @PHENOTYPICFEATURE$, mental disability, convulsions, atrial septal defect, pulmonary artery stenosis, pyloric stenosis, and @DISEASE$.	false
+b892a8d15b1009aaf3c8da4d6e77f27242b57acb	Some authors report that the general characteristics of this disease are agenesis of the corpus callosum, @PHENOTYPICFEATURE$, convulsions, atrial septal defect, pulmonary artery stenosis, pyloric stenosis, and @DISEASE$.	false
+936f43be9b9b4a4cb467ac26ab40ba053ada8ef3	These results allow further delineation of the spectrum of malformations ascribed to SMADIP1 haploinsufficiency, which includes frequent features such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+65e9d8818fab144cbfaefb6b2a95abbe78edc29a	@PHENOTYPICFEATURE$ and dementia in @DISEASE$: a cross-sectional controlled study.	false
+e2af798bb9a64cbd7a0df8fc70bbc1e7b3037082	@PHENOTYPICFEATURE$ and quality of life (Qol) are important to assess the burden of epilepsy and @DISEASE$ (NCC), which are common but neglected in Sub-Saharan Africa (SSA).	false
+65e9d8818fab144cbfaefb6b2a95abbe78edc29a	@PHENOTYPICFEATURE$ and dementia in @DISEASE$: a cross-sectional controlled study.	false
+51534fc2cd5429ce79ba27ef2984919fa3614e18	Although regarded as a rare cause of dementia, mild @PHENOTYPICFEATURE$ may be a much more prevalent neuropsychological feature of patients with @DISEASE$.	false
+f1080e8e1e46b0d0f8525a0a647c7da318dbbdf3	This case reports an incidence of @DISEASE$ in a 32-year-old woman who presented to the emergency department with a @PHENOTYPICFEATURE$.	false
+6a9bbd215201a5bc4a5d84fc4ebdec747d9108ae	@PHENOTYPICFEATURE$ and quality of life of people with epilepsy and @DISEASE$ in Zambia.	false
+6fd441e28c471cbdf45d9767c49eb87f0feff3c2	A diagnosis of @DISEASE$ was made neuroradiologically in an 8-year-old Mexican girl, who had suffered from learning difficulties for a year, and subsequently developed headache, @PHENOTYPICFEATURE$, gait disturbance, visual hallucination, apraxia and euphoric state for 4 months.	false
+7efaa6a179575d51405cbd721b322b454b8b5558	From the 448 cycles analysed, NCI-CTC grade 3-4 toxicities per patient were: @PHENOTYPICFEATURE$ 16%, nausea 7%, diarrhoea 7%, mucositis 5%, neutropenia 24%, @DISEASE$%.	false
+c679a7a7aeecd1fee3bdf968fd5b6a01f2cc6e36	A high ?PCI is an independent dynamic prognostic factor for OS and might reflect a more aggressive @PHENOTYPICFEATURE$ biology in patients with colorectal @DISEASE$.	false
+830869cbb94a08e49a60c73de4c2658275966a5f	In the other patient (case 2), cerebral ischemia and @PHENOTYPICFEATURE$ developed in the setting of previously documented mixed cryoglobulinemia (type II), @DISEASE$, and hypocomplementemia.	false
+713dfbde595e1293cbe9e1151a35b3a34e7e4485	@DISEASE$ (GSD III), a rare autosomal recessive disease characterized by hepatomegaly, fasting hypoglycemia, @PHENOTYPICFEATURE$, progressive myopathy and cardiomyopathy, is caused by deficiency of the glycogen debranching enzyme (AGL).	false
+2e42bc5dc43bd16f17ed8d78e9414bf1da9f4684	Uniparental isodisomy of chromosome 1 results in @DISEASE$ with profound @PHENOTYPICFEATURE$.	false
+63076b624d5fc560696a4ea1228097d17e1f63be	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, hyperlipidemia, and @PHENOTYPICFEATURE$.	false
+3a6b809f4b6b5de44a7ee579f6b0d65b98a4eaf2	@PHENOTYPICFEATURE$ and skeletal muscle weakness are the main clinical features of @DISEASE$, a lysosomal storage disorder caused by acid alpha-glucosidase deficiency.	false
+89f4e29eee17ab3cb401f540df7064a871cc82a2	X-linked liver @DISEASE$ (XLG II) is a recently described X-linked liver glycogen storage disease, mainly characterized by enlarged liver and @PHENOTYPICFEATURE$.	false
+0c55955c4f7476c7f39f98deea4da8ffc66bdbca	@DISEASE$ (GSD III; MIM #232400) is an autosomal recessive inherited disorder characterized by fasting hypoglycemia, @PHENOTYPICFEATURE$, hepatomegaly, progressive myopathy, and cardiomyopathy.	false
+d0bacb526358bdaba3962a99bc8ba3fab59e0205	We describe a patient with late-onset @DISEASE$ with renal magnesium wasting, @PHENOTYPICFEATURE$ hypocalcemia, hypocalciuria and osteopenia.	false
+e1ca698a4a9e553ec75c823d0bcaeb3e385de047	We describe a patient with late-onset @DISEASE$ with renal magnesium wasting, hypomagnesemic @PHENOTYPICFEATURE$, hypocalciuria and osteopenia.	false
+604b84432d622ab072c29347d3944460a1a756e7	Renal magnesium wasting, hypomagnesemic @PHENOTYPICFEATURE$, hypocalciuria and osteopenia in a patient with @DISEASE$.	false
+12e45c47454721434f8180d9eaa3da5581ff3348	Renal magnesium wasting, @PHENOTYPICFEATURE$ hypocalcemia, hypocalciuria and osteopenia in a patient with @DISEASE$.	false
+7d043d3be1367aabb2613dc72966a7b928445733	The authors describe a case of @PHENOTYPICFEATURE$ in an 8-month, 2-week-old infant who had been previously diagnosed with @DISEASE$.	false
+3de0b4f2b5635a94ae408301abf840b3acf0a130	Gain of function mutations are associated to Autossomal dominant @PHENOTYPICFEATURE$ and Bartter syndrome type V, while loss of function mutations are associated to @DISEASE$ and Neonatal severe hyperparathyroidism.	false
+7ac3e8924fd162d0ca7a08a02352817286e2383d	Calcium receptor was also discovered in nephron segments reabsorbing calcium which allowed to understand the mechanisms underlying some inherited disturbances of calcium balance regulation i.e. in @DISEASE$ or hypercalciuric @PHENOTYPICFEATURE$.	false
+edc8e4ddb096c76d38cfe5d9046804775b8da2aa	We have engineered 11 CaR mutants that have been described in the disorders @DISEASE$ (FBH), neonatal severe hyperparathyroidism (NSHPT), and autosomal dominant @PHENOTYPICFEATURE$ (ADH), and studied their function by characterizing intracellular calcium [Ca2+]i transients in response to varying concentrations of extracellular calcium [Ca2+]o or gadolinium [Gd3+]o.	false
+46b157f88140dd9d24073622381e70a48ee6dc29	Symptomatic @PHENOTYPICFEATURE$ and hypoparathyroidism in two infants of mothers with hyperparathyroidism and @DISEASE$.	false
+337c7bf183217275d365917cd793f34eb880d065	Mutations in receptor's gene lead to PTH suppression set-point shift into higher (@DISEASE$) or lower Ca2+ levels (familial hypercalciuric @PHENOTYPICFEATURE$).	false
+6984d7e5d2903706fcc440569a9aacf28fd66b87	Mutations in the CaSR gene may lead to specific parathyroid disorders due to either gain-of-function (autosomal dominant hypercalciuric @PHENOTYPICFEATURE$; ADHH) or loss-of-function (@DISEASE$; FHH).	false
+0376dc3805c8d9e8cb05da9ff1e9587ab05ddadc	PTH clearly plays a role in maintaining the hypercalcemia of @DISEASE$ (FBH or familial hypocalciuric @PHENOTYPICFEATURE$).	false
+7f68cb0c39d6a95c346c5f49a72657f712a7cd85	It was noteworthy that in six @DISEASE$ patients with massive inflammatory cell infiltration in muscle pathology, no remarkable @PHENOTYPICFEATURE$-like signals were observed in muscle MRI.	false
+6489df8a85637da063a567a3258851c22790122f	@DISEASE$ has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by @PHENOTYPICFEATURE$, upper and lower extremity phocomelia, and oligodactyly of the upper limbs.	false
+46f01b34ccefec2a15f783b1d534054b0dd5f21e	Individuals with nonsyndromic @DISEASE$ (NSCL?P) present high frequency of @PHENOTYPICFEATURE$, which may represent complicating factors for dental treatment.	false
+56942753ffbf628ea10855157819a77b653bd800	(2) Prevalence on those 'easily observed' group was high and @DISEASE$ in CBDMN ranked 5 among 57 programs, with similar situation in @PHENOTYPICFEATURE$.	false
+fc174ac33b1862d4da0bb2a91fad01670b0944c6	Moreover, NO2 increased risk of neural tube defects, congenital heart disease, congenital @PHENOTYPICFEATURE$, cleft palate, digestive system abnormalities and gastroschisis, and PM10 was associated with congenital heart disease and @DISEASE$.	false
+7118089c8236ea016bf9f4e2bd6f63f5d4fdb93c	The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, @DISEASE$, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and @PHENOTYPICFEATURE$.	false
+20a0227919492c82294275dd85d72f07d054bc89	@DISEASE$ was completely reversed in two patients, and partially in one, after treatment of the @PHENOTYPICFEATURE$.	false
+46adb1ea344ba7ea6fe626157c4663c28e36e6b6	However, there is a risk for Post-paracentesis Circulatory Dysfunction (@DISEASE$) leading to hyponatremia, @PHENOTYPICFEATURE$, or worsening portal hypertension.	false
+e22fcea6d281b099d2ae47144ae8bea6de79ec08	The @PHENOTYPICFEATURE$ of four patients with anti-Yo-associated PCD and nine ovarian carcinomas from patients without @DISEASE$ were examined for the expression of GluRs.	false
+e083bf08c21f182c07b60f6b584d754aaf343e0e	The @PHENOTYPICFEATURE$ of four patients with anti-Yo-associated @DISEASE$ and nine ovarian carcinomas from patients without PCD were examined for the expression of GluRs.	false
+8a0a36b9262a68043549f6150c88e452449b67c4	In the mutant Reeler mouse, its absence causes neuronal mispositioning, with a notable degree of @PHENOTYPICFEATURE$ that was tentatively related to an increase in @DISEASE$.	false
+953b414034276646cd2a1da24a2bab32fdba07ea	To observe the changes of programmed cell death (PCD) in C57BL/6N strain mouse @PHENOTYPICFEATURE$ formation and study related gene of @DISEASE$ in future.	false
+2115399b73b0022826c47946ef6a947e9c9b449a	To observe the changes of programmed cell death (@DISEASE$) in C57BL/6N strain mouse @PHENOTYPICFEATURE$ formation and study related gene of PCD in future.	false
+9e2d4a781c79268e4b4243f99e2aab56e76594f2	Paraneoplastic neurological syndromes with ophthalmologic involvement include optic neuropathy, opsoclonus-@PHENOTYPICFEATURE$, Eaton-Lambert myasthenic syndrome, paraneoplastic cerebellar degeneration (@DISEASE$) and rhombencephalitis.	false
+0f79142baf28e5e84c5212c88410db85638974c0	Seronegative and seropositive @DISEASE$ patients with similar @PHENOTYPICFEATURE$ had a similar overall survival.	false
+6bb9155d3e6366a613badbad172cbac38062d79a	It has been widely accepted that programmed cell death (@DISEASE$) is an essential event in palatogenesis and that its failure can result in @PHENOTYPICFEATURE$, one of the most common birth defects in the human.	false
+f65420e8aa673cd2b1d7ab4f74d7b6562ac5e719	This study investigated @DISEASE$ induced by DFNA5, a gene responsible for @PHENOTYPICFEATURE$ hearing loss (HL) and a tumor suppressor gene (TSG) involved in frequent forms of cancer.	false
+5077ab96c0a61e56580cb73c8f7c24097664f6c9	This study investigated @DISEASE$ induced by DFNA5, a gene responsible for autosomal dominant hearing loss (HL) and a @PHENOTYPICFEATURE$ suppressor gene (TSG) involved in frequent forms of cancer.	false
+b51ae971afb05186e6eab275c20fcdbc22c30e3c	However, LVP can lead to postparacentesis circulatory dysfunction (@DISEASE$), which is associated with faster ascites recurrence and @PHENOTYPICFEATURE$.	false
+8d61e7ebdfec277f07ba234d12fb9ada25b811b4	Three @PHENOTYPICFEATURE$ models (central pelvic tumour, @DISEASE$ abdominal tumour with or without necrosis) are analysed in detail.	false
+33a40a6e1d32d13acb09b095aff2c2578c34b41b	Three tumour models (central pelvic tumour, @DISEASE$ abdominal @PHENOTYPICFEATURE$ with or without necrosis) are analysed in detail.	false
+2a495c5fe12f34902cf11eedd6aea20e08c5c001	Three tumour models (central pelvic @PHENOTYPICFEATURE$, @DISEASE$ abdominal tumour with or without necrosis) are analysed in detail.	false
+282feb61fb836a01e076acaadb58b232f9db783a	Endosonography showing @DISEASE$ @PHENOTYPICFEATURE$ from the gastric wall in the two patients.	false
+70321d208f9b0593b94db153d9a4fdf6bdba207f	@DISEASE$ @PHENOTYPICFEATURE$ were usually small and responded well to chemotherapy, whereas concentric tumors were large and responded poorly.	false
+eff732b6ea16faf230e4980dd220b0e4798a63d4	@DISEASE$ tumors were usually small and responded well to chemotherapy, whereas concentric @PHENOTYPICFEATURE$ were large and responded poorly.	false
+91c22088138a1fa44ddb30df049c7eb94f2fd7a4	The most common feature of gallbladder carcinoma on different imaging modalities is focal wall thickening, associated with a large @DISEASE$ @PHENOTYPICFEATURE$ mass.	false
+a80f84e83ced839ada0eeb43c7aa509698dfe670	We examined L1 expression in @PHENOTYPICFEATURE$ from 75 @DISEASE$ patients by immunohistochemistry.	false
+692f3fb3fb313c0b46f49dbf82b3ad12d6b76f67	Dorsal root entry zone approach in ventral and @DISEASE$ intramedullary @PHENOTYPICFEATURE$: A report of 2 cases.	false
+4b7125f4607d846023ce45c34c1787399b3e4b90	L1 was not expressed in normal extrahepatic bile duct epithelium but was aberrantly expressed in 42.7% of @DISEASE$ @PHENOTYPICFEATURE$.	false
+3e33d75749af8dcb79ea8a9a698dbedad67820fc	@DISEASE$ @PHENOTYPICFEATURE$ were more often located at the splenic flexure (P = 0.017) and descending colon (P = 0.004).	false
+b842b23ed2f7b43d9fd2d8be4bf6c5b40b511472	In @DISEASE$ @PHENOTYPICFEATURE$, 3D planning significantly increased dose coverage but decreased dosages to OARs compared with 2D planning (p<0.05).	false
+ca6223e62175a2e8ef818d0814d197644e1c91f9	The millimeter scale on the support base allows the accurate lateral displacements of the treatment couch, when @DISEASE$ @PHENOTYPICFEATURE$ most be irradiated.	false
+164a6288d6a0b10e9a35b7c6b352ac4326549062	A 61 year old patient presented with @PHENOTYPICFEATURE$ and weakness, predominant at the shoulder girdle, as the first manifestation of a progressive systemic sclerosis with the signs of the @DISEASE$: subcutaneous calcinosis, Raynaud phenomenon, esophagus disorders, sclerodactyly, telangiectasia.	false
+57c55c95ffdc464f93f7145ddd2bb8067b9d401b	We report a case of isolated renal @DISEASE$, without involvement of the lungs or other organs in a patient with AIDS who presented with symptoms of @PHENOTYPICFEATURE$.	false
+2e433ac7d8df8fb2aa2f8f66000d95aa2a6d0613	To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a @PHENOTYPICFEATURE$ characterized by attacks of involuntary movements occurring after sudden movements, @DISEASE$ (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations.	false
+1c6a4ab0bae8d0e15bea626d5157594b783ef862	We also report PRRT2 mutations in five of six (83%) families affected by @DISEASE$ (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset @PHENOTYPICFEATURE$, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.	false
+5e530e03d77079b1a0eddb91e77a2daa7e6f5786	Paroxysmal kinesigenic dyskinesia with infantile convulsions (@DISEASE$) is an episodic @PHENOTYPICFEATURE$ with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown.	false
+6e75cf22f55bc396b01b1f0d154f098bf9415323	Essential @DISEASE$ is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or @PHENOTYPICFEATURE$; it is often responsive to alcohol.	false
+90a2279b493f1cbc61dfeec62311522310fe628c	Other diseases, such as beta-thalassemia, achromatopsia, colobomatous @PHENOTYPICFEATURE$, @DISEASE$, and congenital myasthenia gravis, were frequent in both the Iranian and Iraqi Jewish communities.	false
+85dda23d30bd39b384f7d7bea7e5c9bd838d2470	This is additional evidence to support the hypothesis that multiple @PHENOTYPICFEATURE$ and @DISEASE$-spina bifida cystica are aetiologically related.	false
+c3066fa5538059312ef8fb0829e6b771c23f772e	An attempt was made to find evidence to support the hypotheses that multiple @PHENOTYPICFEATURE$ and @DISEASE$-spina bifida are aetiologically related, and that solitary vertebral body anomalies are sporadic and developmentally distinct.	false
+5a83c8b959aef25fc882ef2eb243d024ee4734c0	Spina bifida without @DISEASE$, cleft palate, lung agenesis or dysgenesis, and @PHENOTYPICFEATURE$ were associated with a higher risk of being hospitalized with RSV lower respiratory tract infection and an increased severity of disease when hospitalized.	false
+05bab3222fd374892b428e0a014659d470430823	However, there was no single instance of a neural tube defect (@DISEASE$, spina bifida with or without meningocele, other generalised @PHENOTYPICFEATURE$ or spinal dysraphism) amongst 826 first-, second- or third-degree relatives.	false
+2810b06c21f184fc94364d9959a2854c6b78b8bd	The results indicate that if an association exists between @DISEASE$ and @PHENOTYPICFEATURE$, the auditory signs will not develop until adulthood in treated patients.	false
+da585913ad546115381e5031dea319afc7a91c80	@DISEASE$ (FEVR) is a developmental disease that can cause @PHENOTYPICFEATURE$ and retinal detachment at a young age.	false
+1cb666b8c59ec503e2aa20349621576d1b5e0944	@DISEASE$ (FEVR) is a hereditary disease associated with @PHENOTYPICFEATURE$, particularly in the pediatric group.	false
+e93021d1f8d1e6fd1adb915024a4f19b9e875dc7	Two lines of evidence suggest that oligomerization occurs in the endoplasmic reticulum: first, a mutant allele of Fz4, encoding a truncated protein that is retained in the endoplasmic reticulum, is linked to the autosomal-dominant @PHENOTYPICFEATURE$ disease, @DISEASE$ (FEVR).	false
+0b7e0d0c5bfd3984fce320af80a4f0a4740bb93e	Other abnormal findings include retinal pigmentation, concomitant exotropia, neonatal dacryocystitis, retinopathy of prematurity, 'albinism-like fundus', congenital nasolacrimal duct obstruction, @DISEASE$, immature retina, corneal dermoid tumor, large physiologic cupping of optic disc, congenital persistent pupillary membrane, entropion trichiasis, subconjunctival hemorrhage, congenital cataract, vitreous hemorrhage, @PHENOTYPICFEATURE$ and choroidal nevus.	false
+34fbb0b3f113a4ec2ab5d04e29ab5b37b295f325	[Metastizing @DISEASE$ causing total bilateral @PHENOTYPICFEATURE$].	false
+11db012d4656383aa8a11cf9b6e51501e010db22	Congenital @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+d758c00e32425624e6a456ede43004e40abaa6af	Here, ectopic expression of PTEN in the U-87MG human @DISEASE$-astrocytoma cell line is shown to result in the depletion of glioblastoma stem cells (GSCs) and to cause @PHENOTYPICFEATURE$ and senescence.	false
+734617b51850522db799ffd137e49d8109a28c9d	Here, ectopic expression of PTEN in the U-87MG human glioblastoma-astrocytoma cell line is shown to result in the depletion of @DISEASE$ stem cells (GSCs) and to cause @PHENOTYPICFEATURE$ and senescence.	false
+d17ba342a9fd0a8fcc12ae90024ef4918009c47c	SVZ contact by @DISEASE$ was independently associated with the development of @PHENOTYPICFEATURE$, leptomeningeal dissemination, and decreased survival.	false
+6999acfe39653c918671fc253a253a422c9e7b48	@DISEASE$ patients can develop @PHENOTYPICFEATURE$, either obstructive, typically at diagnosis as a result of mass effect, or communicating, usually later in the disease.	false
+4b2c9bd650365cddfc679cd85fbdf0e78a8f68fb	The primary etiology of @PHENOTYPICFEATURE$ was demonstrated as thalamic @DISEASE$, choroid plexus papillomas of third ventricle, post tubercular meningitis hydrocephalus and suprasellar craniopharyngioma.	false
+6fc06fe1fe75ee318abd24edc5c2b90e4a6f8b0b	The primary etiology of hydrocephalus was demonstrated as thalamic @DISEASE$, choroid plexus papillomas of third ventricle, post tubercular meningitis @PHENOTYPICFEATURE$ and suprasellar craniopharyngioma.	false
+dd4f61fac50e3618ee25a7a682d44845954c9d8c	[Bilateral @PHENOTYPICFEATURE$ caused by metastatic @DISEASE$].	false
+5d97f1d73c5f6dd3e4716fa38c6a1f4e3a815aab	We report the prenatal sonographic diagnosis of a congenital @DISEASE$ due to acute fetal internal @PHENOTYPICFEATURE$ in the 37th week of gestation.	false
+9d77e56f8c79907ecc097af5076d4555448ff22f	We experienced a rare case of congenital @DISEASE$ encountered in a three day-old male infant who presented with @PHENOTYPICFEATURE$ since birth.	false
+70ad56ad5874441b663c8ef14c524da429671789	To characterize the indications and efficacy of ventriculoperitoneal (VP) shunting for patients with @DISEASE$-associated @PHENOTYPICFEATURE$.	false
+5588e4ebbba8f2e267b74c1f375a74a41d1c90fa	NF2-specific ocular findings were noted in 83% of all patients (94% childhood onset; 67% adult onset): 67% had @DISEASE$% epiretinal membranes, 3% @PHENOTYPICFEATURE$, 13% disk gliomas, and 27% optic nerve sheath meningiomas.	false
+ba1aecaa46844135f11a3da8373e9af2ceb522f2	4 months after the onset of @PHENOTYPICFEATURE$, dysphagia appeared and she was then diagnosed as suffering from @DISEASE$.	false
+7a34203fe93b3eece8ad6ea79232b1f42147153c	To assess the efficacy and toxicity of Intensity-modulated radiotherapy (IMRT) and @PHENOTYPICFEATURE$ for upper and middle thoracic @DISEASE$ (UMT-ESCC) with supraclavicular lymph node metastasis.	false
+edd4ccbf6928878c323888a801e099ff2524299d	They could not be readily classified into any well known polypoid @PHENOTYPICFEATURE$ of the rectosigmoid colon, but appeared to have some similarities to the previously documented "@DISEASE$ (EPH)".	false
+f386ed1cad205dea60956f7da773626d304ddccb	This study was conducted to evaluate the ocular @PHENOTYPICFEATURE$ efficacy, safety, and side effects of latanoprost 0.005% administered as adjunctive therapy in patients with Sturge-Weber syndrome (@DISEASE$) and glaucoma.	false
+6d88c17ae50223eaf68c4130de285e93bc673fe2	This study was conducted to evaluate the ocular @PHENOTYPICFEATURE$ efficacy, safety, and side effects of latanoprost 0.005% administered as adjunctive therapy in patients with @DISEASE$ (SWS) and glaucoma.	false
+1995a6395eebd1a396a9a190035ef37e04a754c3	Sturge-Weber Syndrome (@DISEASE$) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have only been two case reports with asymptomatic @PHENOTYPICFEATURE$.	false
+c0f35f1301b41fb7b86d12cc43a91500f58c8527	@DISEASE$ (SWS) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have only been two case reports with asymptomatic @PHENOTYPICFEATURE$.	false
+20d1dc0b934fa7f80beda3ac1a77ac9e82889645	A total of 25 patients with the rare @PHENOTYPICFEATURE$ Stueve-Wiedemann syndrome (@DISEASE$) have been evaluated during the last 11 years.	false
+1326752ba5db8e380d18fe060598ac8179217bdb	Analysis of typical conventional radiological and CT findings in our group of patients with the rare @PHENOTYPICFEATURE$ Stueve-Wiedemann-Syndrome (@DISEASE$) and comparison with published data.	false
+5c284715e0f65da6553952c89e914da298421be5	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (@DISEASE$), which comprises campomelia at birth with @PHENOTYPICFEATURE$, contractures, and early death.	false
+76b51b03cbe964cebb42a4cbada2f84cb032aa86	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and @PHENOTYPICFEATURE$, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (@DISEASE$), which comprises campomelia at birth with skeletal dysplasia, contractures, and early death.	false
+d86f6baf0ef4769371f33c7d3a6605a04ec1799f	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (@DISEASE$), which comprises campomelia at birth with skeletal dysplasia, @PHENOTYPICFEATURE$, and early death.	false
+0c20d0bdb99c6380725c431645e9195d819058a5	Three patients affected by drug-resistant epilepsy due to different hemispheric pathologies (posttraumatic epilepsy, @DISEASE$, diffuse hemispheric @PHENOTYPICFEATURE$) were considered to be candidates for vertical extraventricular parasagittal hemispherotomy disconnective based on presurgical evaluation protocol.	false
+bba781843426d6ac3d654f1c9930af62e3493341	Although the intracranial @PHENOTYPICFEATURE$ were characteristic of the @DISEASE$ anomalies beyond the encephalofacial territory suggested a more complex developmental abnormality.	false
+0b591d9f2320e3cd644634265938c6a917cd79cb	A severely retarded girl of 18 had encephalotrigeminal angiomatosis (@DISEASE$) with multiple daily absences, tonic-clonic, @PHENOTYPICFEATURE$, atonic and adversive seizures since infancy.	false
+b44ef1e033c7ff576b57f8359f936780c733eb29	Of all patients with clinical suspicion of @DISEASE$, skeletal and chest radiographs were obtained for classification of the underlying @PHENOTYPICFEATURE$.	false
+caab060d1967e569eaa8af8ebec9f6f83adcac57	Hemispherectomy and disconnective hemispherotomy are the most effective epilepsy surgical procedures for the treatment of epilepsy due to hemispheric pathologies such as @DISEASE$, diffuse hemispheric @PHENOTYPICFEATURE$, and posttraumatic and postischemic focal lesions.	false
+c3a1b53af6da5965120accb56916e18b46147951	@DISEASE$ (POAG) is a major cause of @PHENOTYPICFEATURE$ and results from irreversible retinal ganglion cell damage and optic nerve degeneration.	false
+475dab70c55f415bbdb328b182920f754a41911c	@DISEASE$ (POAG) is a major cause of blindness and results from irreversible retinal ganglion cell damage and @PHENOTYPICFEATURE$.	false
+99e7706461b43e4ca944a56360af000ede60615e	@DISEASE$ (POAG) is a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+a8ea75d919d5b2cd9fa01b4f49bbf8e3121db6e9	@DISEASE$ (POAG) is a major cause of @PHENOTYPICFEATURE$ and visual disability.	false
+e47385582bf02f6fae22bf4b4493b1e5a9d0a8cb	@DISEASE$ is a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+c3949f0b01d0d1e9f52909fdfa49f1626c4230e0	@DISEASE$ (POAG) is a leading cause of @PHENOTYPICFEATURE$.	false
+99e7706461b43e4ca944a56360af000ede60615e	@DISEASE$ (POAG) is a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+281fd3bce0ea0beb1e27515f9dee27bbac9654b9	@DISEASE$ with elevated intraocular pressure is a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+99e7706461b43e4ca944a56360af000ede60615e	@DISEASE$ (POAG) is a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+99e7706461b43e4ca944a56360af000ede60615e	@DISEASE$ (POAG) is a leading cause of @PHENOTYPICFEATURE$ worldwide.	false
+dc45e015e796191c4ba78ff681dea7d92a1200a4	However, excessive ECM remodeling can cause fibrosis of the TM as in @DISEASE$ (POAG) patients, and is characterized by increased resistance to aqueous humor drainage, elevated IOP, @PHENOTYPICFEATURE$ and blindness.	false
+0a1a140891ac92b2ec8e52263bb05f9e19e0c27d	However, excessive ECM remodeling can cause fibrosis of the TM as in @DISEASE$ (POAG) patients, and is characterized by increased resistance to aqueous humor drainage, elevated IOP, optic nerve degeneration and @PHENOTYPICFEATURE$.	false
+75dad69ad1f4678ede78f9fdc35bd820f5350ec0	Furthermore, FLIO is able to detect changes related to various retinal diseases, such as age-related macular degeneration, @PHENOTYPICFEATURE$, Alzheimer's disease, diabetic retinopathy, macular telangiectasia type 2, retinitis pigmentosa, and @DISEASE$.	false
+52330b7ed35d1e497b06267b628a603b5891cf2c	@DISEASE$ associated with familial @PHENOTYPICFEATURE$.	false
+a17d646ae6e8600042cf2811843dd12dcd61c5f0	We examined a 67-year-old man with @DISEASE$ who had right ocular pain and @PHENOTYPICFEATURE$.	false
+bd50942783d38c873f8a328170805a10bb2a94b5	A total score of 6 or greater using a weighting scheme in which certain manifestations were assigned a weight of 2 (@PHENOTYPICFEATURE$, nasal obstruction or rhinorrhea, enlarged tongue, enlarged liver, enlarged spleen, joint stiffness) and others assigned a weight of 1 (hernia, hearing impairment, enlarged tonsils, airway obstruction or sleep apnea) correctly identified 95 % of patients who had no family history of @DISEASE$ or who were not diagnosed prenatally.	false
+2c8f244b607390c3c2846cbe8dd5289c92d2fb58	Clinical signs common to children with @DISEASE$ include inguinal hernia, frequent ear and respiratory infections, @PHENOTYPICFEATURE$, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems.	false
+40d899ad857a12a7045f584a261765adfb30b856	We report an 18-year old male with @DISEASE$ who presented with @PHENOTYPICFEATURE$ and bronchorrhea.	false
+feda8d246b262ebcf452e290e1cfef1ed8ab2791	@DISEASE$ associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and @PHENOTYPICFEATURE$.	false
+34076147272bf6bf6aa85a25e28df2a15e7dce9c	[@DISEASE$ associated with @PHENOTYPICFEATURE$ and pyramidal signs].	false
+731a12fa13f6f19a41403ef129b4a7aa27a3345e	AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phosphorylation deficiency and the Cowchock syndrome, an X-linked @DISEASE$ (CMTX4) with axonal sensorimotor neuropathy, deafness and @PHENOTYPICFEATURE$.	false
+451ad4886848eb6ebc771538b86d41e0d1034625	Because a similar polyneuropathy was recently reported in a case with 46XY partial gonadal dysgenesis, it is possible that these cases represent a new type of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+d6813af0144a12af2efff720f701f4a95b234ad1	Cranial CT in 39 patients (23 belonged to 8 families) with four different groups of hereditary ataxia (HA) showed mainly three combinations of atrophic findings: (1) cerebellar ataxia (CA, n = 17) had marked atrophy of the cerebellum and/or the brain stem combined with moderate @PHENOTYPICFEATURE$; (2) an intermediate group consisting of hereditary spastic paraplegia (HSP, n = 10) and Friedreich's ataxia (FA, n = 7), both with moderate infra- and supratentorial atrophy; (3) atrophy was hardly demonstrated in the group of @DISEASE$ (CMT, n = 5).	false
+6a6214f9546c651f6407b33e23bfb752b9ce21b3	These YACs are available upon request and should be helpful in mapping studies of disease loci, e.g., @DISEASE$, Miller-Dieker syndrome, hereditary breast tumor, myotonic dystrophy, and @PHENOTYPICFEATURE$.	false
+b28efcfab4c465a8d7e0e2b8c35548204a80ccda	X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFM1 (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and @PHENOTYPICFEATURE$, is a rare subtype of @DISEASE$.	false
+f138db93a8c5b55d9dfeabef6cc092987e5a14a8	The first symptoms were @PHENOTYPICFEATURE$ and clumsiness in all cases, followed by progressive development of severe distal amyotrophy reminiscent of @DISEASE$.	false
+16c457aba08a8e84635de0f09cd0f3ca9e84a698	We describe a patient diagnosed with @DISEASE$, with a 4 months history of bilateral @PHENOTYPICFEATURE$ and floaters.	false
+07a642ca889698dd2c33383a122cd78cb858a264	@DISEASE$--suxamethonium and @PHENOTYPICFEATURE$ triggering agents.	false
+768856a84f43b8567fd2fcb533094df3ec600278	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+c3e38e6a9f709d1b7d87809a5713ec9945d413c3	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+37b9277d0b2adc32f66ba6cba683ad2689b0d63a	Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma ;gangraenosum and acne (@DISEASE$) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis (SAPHO) syndrome are classified in sporadic group.	false
+c6e5c57ea31f7a8f13124c5907c04a92db5cf6ac	A new phenotype of @DISEASE$ has been described, characterised clinically by a late onset and progressive permanent @PHENOTYPICFEATURE$, and genetically by exclusion of the genes so far identified in EA.	false
+ce72f9b7223ff92002df27ab617221b246b183c9	We also explored the relationship between MALS and visceral @PHENOTYPICFEATURE$, Ehlers-Danlos syndrome, and @DISEASE$.	false
+480355f3b2abd54f696c3a5e6ed45f3588edb11e	Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial dysmorphy, a mild mental retardation, bilaterally undescended testes, @PHENOTYPICFEATURE$ and a terminally developed, fatal @DISEASE$ were present in the patient.	false
+4b438f458fb6591fe94b9949c30d8a60d11a61f5	The presence compared to absence of @DISEASE$-related lesions was significantly associated with high serum (78% vs. 42%, p = 0.008) and CSF (81% vs. 50%, p = 0.024) antigen titers, independently of @PHENOTYPICFEATURE$.	false
+4b98c53c41bdbd420cf575ea32047d7602c75aad	FGF-23 was recently shown to be involved in the development of several hypophosphatemic diseases, including X-linked hypophosphatemic rickets/osteomalacia (@DISEASE$) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia (TIO).	false
+2e660a5501a76373ba37eecb4312c183eca9e6f8	FGF-23 was recently shown to be involved in the development of several hypophosphatemic diseases, including @DISEASE$/osteomalacia (XLH) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia (TIO).	false
+6127aade59b45baac97b38deaa7653695db954a2	In addition, FGF23 was shown to be involved in the development of several diseases including autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR), X-linked hypophosphatemic rickets/osteomalacia (@DISEASE$) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia (TIO).	false
+e69a78735564696d6344f0cee2df86b2208142cc	Clinical and laboratory findings in this disorder are similar to those in oncogenic osteomalacia, in which @PHENOTYPICFEATURE$ abundantly express FGF-23 messenger RNA, and to those in @DISEASE$, which is caused by inactivating mutations in a phosphate-regulating endopeptidase called PHEX.	false
+9a44e07aa19e6f6117a58414260f9c9dbc2e2d1a	The gene product, FGF-23, is produced by @PHENOTYPICFEATURE$ from patients with oncogenic osteomalacia (OOM), circulates at increased levels in most patients with @DISEASE$ (XLH) and is phosphaturic when injected into rats or mice, suggesting involvement in the regulation of phosphate (Pi) homeostasis.	false
+7f2e2f6fb808de5322deba0345c681a6cddd8bb2	The gene product, FGF-23, is produced by @PHENOTYPICFEATURE$ from patients with oncogenic osteomalacia (OOM), circulates at increased levels in most patients with X-linked hypophosphatemia (@DISEASE$) and is phosphaturic when injected into rats or mice, suggesting involvement in the regulation of phosphate (Pi) homeostasis.	false
+eb758c841dcf54f6b3ecfedec039b659b293e394	Three hypophosphatemic diseases, X-linked dominant hypophosphatemic rickets/osteomalacia (@DISEASE$), autosomal dominant hypophosphatemic rickets/osteomalacia (ADHR) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia (TIO), show very similar clinical features including hypophosphatemia due to renal phosphate wasting.	false
+12bd212629abe648fad528767f37d08f03910d94	A syndrome with a remarkably similar biochemical phenotype, namely, X-linked hypophosphatemic rickets (@DISEASE$), also has a circulating factor with properties similar, if not identical, to those of the @PHENOTYPICFEATURE$-derived factor, "phosphatonin."	false
+c632557d8583423af919388fa02036b6e9d11410	More XLH patients than controls showed nuchal ligament calcifications, and some @DISEASE$ patients showed @PHENOTYPICFEATURE$.	false
+05191e2becf2ffcb50cae4a208e7e3dd90472729	More @DISEASE$ patients than controls showed nuchal ligament calcifications, and some XLH patients showed @PHENOTYPICFEATURE$.	false
+887cd07de31f9d38683b73c72ee2d34f0d3861fd	Studies of patients with @PHENOTYPICFEATURE$ associated with osteomalacia (tumor-induced osteomalacia), @DISEASE$ (XLH) and autosomal-dominant hypophosphatemic rickets have provided important new insights into the identity and mechanisms of action of factors that play a role in controlling renal phosphate excretion and serum phosphate concentrations.	false
+6707093a7d26afdcbd4705511214cdb74f6da8f6	Studies of patients with @PHENOTYPICFEATURE$ associated with osteomalacia (tumor-induced osteomalacia), X-linked hypophosphatemia (@DISEASE$) and autosomal-dominant hypophosphatemic rickets have provided important new insights into the identity and mechanisms of action of factors that play a role in controlling renal phosphate excretion and serum phosphate concentrations.	false
+ee8499bbe68767d1a1445d125d8ae55e6c753d0c	X-linked hypophosphatemic rickets/osteomalacia(@DISEASE$), autosomal dominant hypophosphatemic rickets/osteomalacia(ADHR) and @PHENOTYPICFEATURE$-induced rickets/osteomalacia(TIO) share common clinical features including impaired proximal tubular phosphate reabsorption.	false
+ab80e08c0810e504d29f3ecf2dfa1cb0eefa0081	In the differential diagnosis mainly four conditions have to be considered: (i) @PHENOTYPICFEATURE$-associated osteomalacia, (ii) X-linked hypophosphataemia (@DISEASE$), (iii) autosomal dominant hypophosphataemia, and (iv) hypercalcaemic renal phosphate wasting.	false
+e16ef0b390357dd327cc30bf295fa14ae1c0d011	The case was a 45 year old female patient of @DISEASE$ vata (rheumatoid arthritis) with sandhijadya and sankoca (@PHENOTYPICFEATURE$ deformity) who was hospitalized for 2 months.	false
+9d6eb843106b3d30aa2098c66e086d50f77332b9	The efficacy of hemodilution therapy, to @DISEASE$ @PHENOTYPICFEATURE$, is limited by an accompanying decrease in oxygen content.	false
+e8ee697f4eb04acd3d097aa5986afd8f5c85881a	African-@DISEASE$ @PHENOTYPICFEATURE$ also contained a prominent interferon signature.	false
+575ade5a00b93ed2eed8635e9f1d2e0eb9a2c5fe	A total of 212 patients with @DISEASE$ but without clinical signs of serious heart failure or @PHENOTYPICFEATURE$ and with a mean delay from onset of pain to study entry of about 7 hours were studied.	false
+bcbd2108a94c63d5504536c5e520ab9399968707	Bid deficiency @DISEASE$ ischemic @PHENOTYPICFEATURE$ and delays animal death in C57BL/6 mice.	false
+32bebe48cf8c779afebcd96aefcf4a4919392eef	However, episodes of @PHENOTYPICFEATURE$ and the need for vasopressors did not affect the change in @DISEASE$ during the acute hospitalization, regardless of theoretic MAP goal set-point.	false
+0b54bac6d0f025cd3815c7c4e441be1892792b2e	@DISEASE$ was associated with @PHENOTYPICFEATURE$ (7-8/h) and restless legs.	false
+71ee8f7bfbd9b0217096f46df9d397b73d0df037	According to our results hAMSCs can be @DISEASE$ @PHENOTYPICFEATURE$.	false
+cfe2d65a7fc941061295c77cff0734ca56c8ba26	Compared with the sham group, the @DISEASE$ group had @PHENOTYPICFEATURE$, higher left ventricular (LV) end-diastolic pressure, depressed maximum dP/dt of LV pressure, a larger infarct size and higher CK and MDA levels.	false
+bc2a1bf877a412839e95d8f52e063b2f2f8b3f90	Antihypertensive agents can prevent or @DISEASE$ renal vascular damage secondary to arterial hypertension, including @PHENOTYPICFEATURE$.	false
+138ff4755d8409650bc878a3402513085103d68d	The most common presentations are @PHENOTYPICFEATURE$ because of @DISEASE$ and conduction abnormalities.	false
+bf66339ca8f719f4a2352d31c42597dddd1bf425	Endomyocardial fibrosis is a @DISEASE$ that causes @PHENOTYPICFEATURE$.	false
+1612dc0f26cbb0408aee6cda9d73432dd539e7c4	It can lead to cardiac conduction disturbances, @DISEASE$, and low output @PHENOTYPICFEATURE$.	false
+76a494d88ea15d124e77be5b605b1a7765725896	[A case of @DISEASE$ associated with abnormal Q wave and @PHENOTYPICFEATURE$-tachycardia syndrome, successfully treated by AV sequential pacing].	false
+5ad21de62b5ee8ef7f08ee600fa56733b2e36897	[A case of @DISEASE$ associated with abnormal Q wave and bradycardia-@PHENOTYPICFEATURE$ syndrome, successfully treated by AV sequential pacing].	false
+7edc2b87c7ffb4b568d4ec1a9e38d834804ca723	[@DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+91dbc6d3480d9975ab8d79d342d14aa53fd879d5	Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, @PHENOTYPICFEATURE$, and @DISEASE$ associated with deposition of amyloid fibrils in these tissues.	false
+1bf63a20e601b1aa1590e8e44795e8416524a568	A 51-year-old woman had severe @DISEASE$ with @PHENOTYPICFEATURE$.	false
+a30be43432006d616f5654e7efebcde45c6dd636	Cardiac amyloidosis is an important cause of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ac4f91775eb94810ee1030ba2d236e30cdb43e3c	Hereditary amyloidodis is a rare disease process with a propensity to cause polyneuropathies, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+be32434ce2ffbd1450c91763d90aaea77f58086d	She had @DISEASE$ with severe @PHENOTYPICFEATURE$ and chylous ascites.	false
+465e2d9a87ba16e31da2f8d535e0513a980df4bf	Some physicians often perform diagnostic evaluations for plasma cell disorders (@DISEASE$) in African American patients on the basis of hematological abnormalities (thrombocytopenia, leucopenia, etc.) even in the absence of traditional triggers such as anemia, renal impairment, hypercalcemia, @PHENOTYPICFEATURE$, and lytic bone disease.	false
+03f71f941689fd09e2a5dee15c1b5ae4d7dba50a	Synchronous extrahepatic @PHENOTYPICFEATURE$ and @DISEASE$ are very rare.	false
+95748e8964e03298e46432a8fda85940658cca6e	In this presentation, the anaesthetic management of patients with synchronous @DISEASE$ and @PHENOTYPICFEATURE$, both of which are rare diseases, is evaluated.	false
+1e79610a9be52b47a199b5b95032200a4a52a210	On the basis of our study we concluded that patients with clinical suspicion of @DISEASE$, especially those with LCD are referred to a special Protein Laboratory too late, it means at the time of significant nephrological risk in the form of low glomerular filtration rate, hypercalcemia and @PHENOTYPICFEATURE$.	false
+c1939bf970ce369aa6d27406cd59bf2fbb69da63	Nuclear entrapment and extracellular depletion of PCOLCE is associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+b3053277650616be3225da08017684b52371b977	@DISEASE$ cases were classified into two groups "no/questionable/@PHENOTYPICFEATURE$/mild"=low-risk epithelial dysplasia (LRED) and "moderate or severe"=high-risk epithelial dysplasia (HRED).	false
+07ca6f91ab0319bdca9a4635f9a7dd7e0a3e40fb	TDP-43, OPTN and, to a lesser extent, FUS/TLS were more frequently accumulated in the cytoplasm in patients with sIBM and @DISEASE$ than in patients with PM, DM, @PHENOTYPICFEATURE$, or healthy control subjects.	false
+39549e866254670f8a59d5aad2388eaf6b8c2a97	Among these, 4.5% had an oral mucosal lesion with 0.9% being an @DISEASE$ (one submucous fibrosis, three epithelial dysplasias, fourteen with @PHENOTYPICFEATURE$/epithelial hyperplasia and nine with oral lichen planus).	false
+ddf371acecb36b3631ec7f19410aa593f7d67183	We followed-up 5071 patients with @DISEASE$-epithelial dysplasia with oral submucous fibrosis, epithelial dysplasia with hyperkeratosis/epithelial hyperplasia, @PHENOTYPICFEATURE$/epithelial hyperplasia, oral submucous fibrosis, lichen planus, and verrucous hyperplasia-between 2001 and 2010 for malignant transformation.	false
+e21dcba40c5b6ccc23b1ec4381a6e8923d743398	We followed-up 5071 patients with @DISEASE$-epithelial dysplasia with oral submucous fibrosis, epithelial dysplasia with @PHENOTYPICFEATURE$/epithelial hyperplasia, hyperkeratosis/epithelial hyperplasia, oral submucous fibrosis, lichen planus, and verrucous hyperplasia-between 2001 and 2010 for malignant transformation.	false
+919eedbb17218229a641446e7ef7f83708c59be8	[@DISEASE$ with @PHENOTYPICFEATURE$.	false
+39169602d3fe8609f5e857dcde8f14ca6595393d	Skeletal muscle biopsy specimens of five patients with sIBM, two with @DISEASE$ (OPMD), three with polymyositis (PM), three with dermatomyositis (DM), three with @PHENOTYPICFEATURE$, and three healthy control subjects were examined.	false
+97e1b012a7225219671e03e881b553e0e04e6fdc	Skeletal muscle biopsy specimens of five patients with sIBM, two with oculopharyngeal muscular dystrophy (@DISEASE$), three with polymyositis (PM), three with dermatomyositis (DM), three with @PHENOTYPICFEATURE$, and three healthy control subjects were examined.	false
+c58b79da57e2fd7c024360e520ae66c3ec849147	These results demonstrate a fibre-type specificity of @PHENOTYPICFEATURE$ in this @DISEASE$ model.	false
+7cf6e7d95aaef433bd7827d34173106ad72c1ea4	Persons diagnosed with either an @DISEASE$ (n = 86) [oral epithelial dysplasia (OED), oral @PHENOTYPICFEATURE$/epithelial hyperplasia without OED] or a benign oral tissue condition (n = 155) were identified through PR pathology laboratories.	false
+0f9468f6265b3dc07a4b1eabbfcb0a56c1297dc6	In particular, the involvement of a thalamic-perisylvian neural network similar to the one previously observed in patients with @DISEASE$ suggests a common sleep-related network dysfunction even in cases with milder phenotypes without @PHENOTYPICFEATURE$.	false
+09626cec7572c844346f5f4e0c71b104298998e1	This study demonstrated that the rate of the SWI (typical vs. atypical ESES) and the maximum amplitude of the ESES pattern (anterior vs. posterior) have no significant correlation with @PHENOTYPICFEATURE$ control and reduction of the SWI on the EEG in children with @DISEASE$ syndrome.	false
+e558e5fc421f3f3eefb9338def7f089e59fe97f8	In our review of 111 metastases to the bone marrow over an 18-year period, the most common primary tumor types are, in order of frequency: breast carcinoma, neuroblastoma, lung tumors, rhabdomyosarcoma, @DISEASE$, prostate carcinoma, and @PHENOTYPICFEATURE$.	false
+ae980bb6979de079d36735feb04da0a8d98221ab	Methylprednisolone was effective for improving ESES and @PHENOTYPICFEATURE$ in 3 epilepsy syndromes combined with @DISEASE$.	false
+400bb5f82741736b4ff76240d458ab29203b56c8	A striking result was that 3 of 11 children with unilateral polymicrogyria and @DISEASE$ syndrome became seizure free, and in another six a significant improvement in frequency of @PHENOTYPICFEATURE$ and in EEG abnormalities seemed to be related to the add-on of sulthiame.	false
+3cd8e2875137993b329cdb466e5deda811405f87	A striking result was that 3 of 11 children with unilateral polymicrogyria and @DISEASE$ syndrome became @PHENOTYPICFEATURE$ free, and in another six a significant improvement in frequency of seizures and in EEG abnormalities seemed to be related to the add-on of sulthiame.	false
+7b41aec6650d916a9844732a4d4604ebaa37aec4	Based on the characteristics of @PHENOTYPICFEATURE$ semiology, other clinical data and EEG findings, the patient was diagnosed as having the syndrome of "@DISEASE$ seizures" described by Panayiotopoulos.	false
+5f9b9e2adfbf51fc77a59cd558323011dc9ab2e4	Nova onconeural antigens are neuron-specific RNA-binding proteins implicated in paraneoplastic opsoclonus-myoclonus-@PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+6f338aa016860719c8ae492ff3254a6555d6347a	Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting in complications such as corneal ulcerations and retinal blindness, a distal @DISEASE$, delayed puberty, @PHENOTYPICFEATURE$, pancreatic deficiency and central nervous system involvement.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+2f811b1bff277c4e6da7f69cb6064dbb4c913595	Regional specificity of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+727de9eba3d3328bc8d12703ac7a0bb155801055	@DISEASE$ (HD) is characterized by @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+9eee8a1049cdf1814109d9e8f620ca93c10bb2d3	Our hypothesis was that the rate of @PHENOTYPICFEATURE$ is influenced by the age of onset of @DISEASE$.	false
+e597e277470d3d75fd1903f43420a872177060c8	The topographic distribution of @PHENOTYPICFEATURE$ in @DISEASE$ and progressive supranuclear palsy.	false
+8641112683fdb4838e52af44b8589351e37453f8	The @DISEASE$ patients were divided into two groups according to the presence or absence of @PHENOTYPICFEATURE$ (LVH) in echocardiography.	false
+39e638f5fd1c71f6c8a0926c9a7563ac72ac6374	Neuropsychological correlates of @PHENOTYPICFEATURE$ in @DISEASE$: a magnetic resonance imaging study.	false
+bc19c26f8d50c017e8637d89fd381d0a7f0fd890	@DISEASE$ (HD) is a devastating neurodegenerative disorder whose main hallmark is @PHENOTYPICFEATURE$.	false
+fa1f7c94e165d2f52517ccbb2b6070620134bc65	@DISEASE$ (HD) is a fatal, inherited neurodegenerative CAG disorder characterized by marked @PHENOTYPICFEATURE$.	false
+42f5c1878bdb8f9113cdb42f2527e874ab6e0e62	Some CLDs, such as extrahepatic @PHENOTYPICFEATURE$ (EHBA), @DISEASE$, and Indian childhood cirrhosis, require special considerations.	false
+7c81c3b3b1f75dbaa80bd255f07b82bd76eaf04c	Indication for initial liver transplantation was @PHENOTYPICFEATURE$ (n = 3), acute liver failure (n = 3), and type 1 @DISEASE$.	false
+b43923d276365dfbe7e8dcecc6efa3c8a5d2d913	The primary liver diseases among these patients were as follows: @DISEASE$, @PHENOTYPICFEATURE$, and tyrosinemia.	false
+71c00963dd54cb9c929fdea264e517fbd2276890	The spectrum of defect in the subjects, suffering from liver diseases showed that viral hepatitis was more common (relative frequency of 60%), followed by enteric hepatitis (26%), drug induced liver injury (7.5%), @PHENOTYPICFEATURE$ (5.0%) and @DISEASE$ (1.5%).	false
+d2dccfc38bd97923414b7df6d9437198e90dd693	The indications were @PHENOTYPICFEATURE$ in five (polysplenia in one), biliary hypoplasia in one, alpha-1-antitrypsine deficiency in one and @DISEASE$ in one.	false
+d609f6a7fdb1b45f01e034dcc2dfa1df4b0d47dc	Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with @PHENOTYPICFEATURE$; and in the gene CA2, encoding carbonic anhydrase II, in @DISEASE$.	false
+6d9e4ce14bfc3b40a3996128ceab9a46b3b01131	The findings support the hypothesis that a subgroup of patients with @DISEASE$ exists in whom the @PHENOTYPICFEATURE$ is caused by a primary retinal degeneration that may be associated with generalized central nervous system neuronal degeneration.	false
+a02bd6b9c468c7cea17f7e28041811b6a3bebfa1	The term @DISEASE$ was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/@PHENOTYPICFEATURE$.	false
+5ef6c70fb73d52cfe7f68ab4a1eb9eccf24e37a5	@DISEASE$ (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/@PHENOTYPICFEATURE$.	false
+8dc7d314dd2741902fb8e3ad3b08161e6431e618	The @DISEASE$ is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed @PHENOTYPICFEATURE$ of the toe joints and the proximal interphalangeal joints.	false
+4a5c8d3a1260462a95e11acb1ff19da1cfc80273	@DISEASE$ (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and @PHENOTYPICFEATURE$.	false
+66a03ca91a9d8647582fe30c7e33b1163deb307d	@DISEASE$ (CVI) was found in 27.2% (97% mental impairment), @PHENOTYPICFEATURE$ in 8.0%.	false
+d7963f339ef1315d7af3c26da0a400fdeb64751a	Microcephaly, @DISEASE$, optic neuropathy, @PHENOTYPICFEATURE$, ataxia, epilepsy, and movement disorders were also observed.	false
+fabea223ee728b9a72d635676dd9dbedb8acd380	Erythroderma in @DISEASE$ may be caused by either mutations in genes associated with severe combined immunodeficiency (SCID) in which the generation of some T cells is possible, which results in potentially autoreactive lymphoid clones, or by selective proliferation of revertant CD8 T cells in the skin due to clonal expansion in response to infections or autoantigens.The newborn eczematous eruption, which occurs mainly in the signal-transducer-and-activator-of-transcription-3 (STAT3) variant, helps to differentiate STAT3 from Dedicator of Cytokinesis 8-related Hyper-IgE-syndrome (HIES).Impaired T helper 17 cell (TH17) immunity [HIES and defects of autoimmune regulator element (AIRE), STAT-1, and interleukin17 receptor(IL17(R))] may give rise to localized chronic mucocutaneous candidiasis, whereas a defective innate immune system predisposes to systemic candidiasis [congenital neutropenia, neutrophil dysfunction, and caspase recruitment domain 9 (CARD9) deficiency].Noninfectious granulomas may be the presenting symptom in innate immunity defects [such as chronic granulomatous disease (CGD) or in predominantly humoral immunodeficiencies such as common variable immunodeficiency], as well as @PHENOTYPICFEATURE$ teleangiectasia or rare recombination-activating gene-deficient cases.	false
+5235c3ff6fa63f1e349fb04f972470eacc45e867	A case of synovitis, acne, pustulosis, @PHENOTYPICFEATURE$, and osteitis (SAPHO) syndrome complicated by @DISEASE$ with nephrotic syndrome.	false
+7669bb3f47a0afa152f8499f3f22e50525d46fc7	EBV has been associated with other autoimmune diseases, such as systemic lupus @PHENOTYPICFEATURE$, and cancers like @DISEASE$.	false
+2948fc4c9009549f696324d712e088cbaec8b21d	@PHENOTYPICFEATURE$ associated with acquired immunodeficiency syndrome (AIDS)-related @DISEASE$.	false
+48b5424201619ee010da9564cb54b4473a0dc2b5	@DISEASE$ was the most common 4 (40%) malignant childhood @PHENOTYPICFEATURE$ and prevalent between 5 and 14 years of age.	false
+c76c320cc6a9f3098573611ac8f9b65aa82daeab	Mature cystic teratoma remains the single most common childhood @PHENOTYPICFEATURE$, and @DISEASE$ is the most malignant childhood ovarian tumor in Ibadan, South-western Nigeria.	false
+1d5ae5a470bab7c6ebdadb0f2b0ee23f30f380d4	Mature cystic teratoma remains the single most common childhood ovarian neoplasms, and @DISEASE$ is the most malignant childhood @PHENOTYPICFEATURE$ in Ibadan, South-western Nigeria.	false
+4c9500f29583f24cc83c2ee086e5163d9900810e	@DISEASE$ associated with autism and @PHENOTYPICFEATURE$: a case report.	false
+468c145b4e9fa98da40ec1967a6bb40ec0cb31ac	@DISEASE$ is characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, and chest and abdominal pain.	false
+f4920f7d41f1c73ffe0c1be34a161939477b771d	@DISEASE$, an endemic zoonotic viral infection in West Africa, presents with varied symptoms including fever, @PHENOTYPICFEATURE$, retrosternal pain, abdominal pain, sore-throat, mucosal bleeding, seizures and coma.	false
+338d54f3d586859cecf6705683a7b8d8cbeca10e	After German authorities raised an alert regarding the imported @DISEASE$ case, an American healthcare worker who had cared for the index patient in Togo, and who presented with diarrhoea, @PHENOTYPICFEATURE$ and fever, was placed in isolation and medevacked to the United States.	false
+d84d327f41646ce6e817a8dbac0cd87bf0b7d24c	@DISEASE$-like pathology included acute hepatitis, interstitial @PHENOTYPICFEATURE$, and pronounced disturbance of splenic cytoarchitecture.	false
+11d6197307eda962516219ff99e5b209d099dd78	Neither these lesions, nor other milder and less constantly observed lesions such as myocarditis, renal tubular injury, and interstitial @PHENOTYPICFEATURE$, appeared severe enough to explain the cause of death in @DISEASE$.	false
+905d83e04e8eec0c0e11dbb79f7a770eb1584cdb	@DISEASE$, an acute hemorrhagic fever characterized by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$, diarrhea and chest and abdominal pain.	false
+2dfd26ba6cb382725c42b4c79d7bc13498dc645b	2'-Fluoro-2'-deoxycytidine (2'-FdC) was reported to inhibit various viruses in vitro, including Borna disease, @PHENOTYPICFEATURE$ C, @DISEASE$, influenza and certain herpes viruses, and is inhibitory to influenza viruses in mice.	false
+33cb937030b0abefa787c2f40afa249605feabba	@DISEASE$ is an acute viral zoonotic illness caused by Lassa virus, an arenavirus known to be responsible for a severe haemorrhagic fever characterised by fever, muscle aches, sore throat, nausea, @PHENOTYPICFEATURE$ and, chest and abdominal pain.	false
+7fe5d984e95f0511d6c2b33a60966dba3e474b65	We detected a de novo truncating variant within exon 7 of KAT6B in a 8-year-old female who presented with mild intellectual disability, facial dysmorphisms highly consistent with SBBYSS, and @PHENOTYPICFEATURE$ including exostosis, that are usually considered component manifestations of @DISEASE$.	false
+e8b01be86fe7c0c1b2eea80b4d6988fec4fb419f	The @PHENOTYPICFEATURE$ was identified as @DISEASE$.	false
+e87232825b07377e38bdead345bb2a741a671e7f	Nonproducing parathyroid carcinoma compares unfavorably with producing @DISEASE$ in terms of @PHENOTYPICFEATURE$ progression and prognosis.	false
+da522dac3cb33d012873348ecb0c53707f1c4b7e	Nonproducing @DISEASE$ compares unfavorably with producing parathyroid carcinoma in terms of @PHENOTYPICFEATURE$ progression and prognosis.	false
+e293dc7009d39bf8d4ef6b84dbdb36af4e5c0fca	Histological examination revealed both @PHENOTYPICFEATURE$ were @DISEASE$.	false
+b45ae9fa71d55ea0ea69d6ea7f444fb860555145	The patient with @DISEASE$ displayed no such effect indicating an autonomous parathyroid hormone secretion from the parathyroid carcinoma @PHENOTYPICFEATURE$.	false
+21f433385610ba488d7fbd8fd75af58d0e6435c4	The patient with parathyroid cancer displayed no such effect indicating an autonomous parathyroid hormone secretion from the @DISEASE$ @PHENOTYPICFEATURE$.	false
+e3c6a0b3e51ef02e9d27f9fc5a59ce79ddf51aaf	The pathological diagnosis of the @PHENOTYPICFEATURE$ was @DISEASE$.	false
+0aabdfdf687e01056a28a292b414b47d46e142b7	@DISEASE$ is an indolent @PHENOTYPICFEATURE$ with rather low malignant potential.	false
+78c2c0bed3b3d36f2aab648f65f867b5d82d18c8	Sphenoid brown @PHENOTYPICFEATURE$ associated with a @DISEASE$.	false
+96de504c139321e249d555a3d4661824a7bb0491	@DISEASE$ radiographically mimicking a carotid body @PHENOTYPICFEATURE$.	false
+9478d8fcdfd547743cdf80c860f4be6f41e1d7f6	Multiple brown @PHENOTYPICFEATURE$ from @DISEASE$.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+419b34dab1785d94843129f3e2af6348a9cf8b11	@PHENOTYPICFEATURE$ and bone lesion as clinical manifestations of @DISEASE$.	false
+88d1605a68c0cab6b1ab88d8f1f1398521e5fd0d	A case of @DISEASE$ complicating biliary cirrhosis caused by @PHENOTYPICFEATURE$ is reported.	false
+787dc2c7e63447cef55ba5d27806377d9ee5afd7	Common to these 71 cases has been a histopathologic diagnosis of focal nodular hyperplasia, adenoma, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6b329eb6b0c89831f267489de2e61d84425156b1	[A case of chronic renal failure caused @PHENOTYPICFEATURE$ following percutaneous radiofrequency ablation therapy for @DISEASE$].	false
+dd1ebce0849dcaf5d7af023fd920edd54b6ad743	Some shunts present with space-occupying lesions (focal nodular hyperplasia, @DISEASE$, nodular regenerative hyperplasia, etc.) or @PHENOTYPICFEATURE$.	false
+0565e71c15ebdfe0fe91d3c22b6e420c44ec25fc	Focal cirrhosis of the liver:  its relation to the so-called @PHENOTYPICFEATURE$ (adenoma, benign @DISEASE$).	false
+9c07897f07fdb928b3bea424129c0a774c2b3c4a	@DISEASE$ in an infant with @PHENOTYPICFEATURE$ younger than 1 year.	false
+c6d7ad25d525d7ddd4055b92ce22d36053ac3cc2	We report a case of development of @DISEASE$ in a patient who had the Kasai procedure done for @PHENOTYPICFEATURE$.	false
+61c409aa39e7434c689084bfcbf0a1721a394eed	To establish risks for development of @DISEASE$ (HCC) in children with @PHENOTYPICFEATURE$ (BA), the most common chronic liver disease of childhood.	false
+91e1c2845a33718a052dec3878b52a22fa33f9e2	Their disorders were citrullinemia, @PHENOTYPICFEATURE$, liver cirrhosis, and @DISEASE$.	false
+eaccdda346d0ede8149b529cfc80dd8169d513d8	Surveillance of hepatic nodules for malignant transformation to @DISEASE$ is important in the monitoring of patients with @PHENOTYPICFEATURE$ (BA).	false
+61b7ab6b8aedc0ea0a632dfb412d6f74b6938deb	All infants with @DISEASE$ had hemorrhagic @PHENOTYPICFEATURE$.	false
+1c5f1cc524fac422324484d7a1054fbd73f0eaa2	With respect to the contribution of meconium-induced @PHENOTYPICFEATURE$, inflammation and vasoconstriction on the course of the disease, glucocorticoids are increasingly used in the treatment of @DISEASE$ despite the fact that principal questions on the choice of GCs derivative, mode of delivery and dosing have not been answered yet.	false
+b8f96895bd7c2d59b9569607bc7035eb59547d38	Inflammation, oxidation, @PHENOTYPICFEATURE$, and other factors participate in surfactant dysfunction in meconium aspiration syndrome (@DISEASE$).	false
+501958366b473ca3fab83017a2dd8841c8be30f8	The pathophysiology of functional deficiency of pulmonary surfactant in the neonatal respiratory disorders represented by @DISEASE$, hemorrhagic @PHENOTYPICFEATURE$ and ARDS was discussed.	false
+50f2b1173a1a2f5d5efd655d923cb7fc4a0ecad2	Each of the anti-inflammatory agents reduced @PHENOTYPICFEATURE$ and neutrophil influx into the lung and partly reversed surfactant dysfunction in the @DISEASE$ model, with a superior effect observed after glucocorticoids and the antioxidant N-acetylcysteine.	false
+c883ca754cc30ed44d6490263892a75e01020ec5	Another rare condition, ischiadic hypoplasia, renal dysgenesis, @DISEASE$, and @PHENOTYPICFEATURE$ (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome.	false
+21f694c7d15684c62e16771645cbd79d59f930a3	We report on two sisters, born to consanguineous parents of Sri-Lankan descent, who presented in infancy with @DISEASE$, @PHENOTYPICFEATURE$, and fatal lung fibrosis.	false
+baa43d3876e91163e62ce8e7d6ec02beb17b9e88	Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by @PHENOTYPICFEATURE$, oculocutaneous telangiectasia, and @DISEASE$.	false
+0a429e850abe65486abb54eab2f8d3827b6bf266	The contribution of stereotactic biopsy (SB) in three pathological conditions; neoplastic disease, @DISEASE$ states and degenerative @PHENOTYPICFEATURE$, is reviewed.	false
+70ff50006410dacefdede67317d9f3e2544e6a11	Primary @DISEASE$ in combination with transverse upper limb defect and @PHENOTYPICFEATURE$ in a 34-year-old patient with Jacobsen syndrome.	false
+20340e913832ac2bc7f7d08bcadffa0564345bd9	Hyperimmunoglobulinemia E syndrome is a primary @DISEASE$ characterized by elevated IgE levels, recurrent infections, pruritic rash, and skeletal and @PHENOTYPICFEATURE$.	false
+5336d56e4dd726f9e1cd65422bb646e43d2b675d	Features include hypohidrosis, @PHENOTYPICFEATURE$, alopecia, and @DISEASE$.	false
+e4b113722cc43a2ef5cc7698535a0e7aa3a79709	Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, @PHENOTYPICFEATURE$, sparse hair, and @DISEASE$.	false
+d12fea1673924096e999a5db304762d9e5b200eb	Familial @DISEASE$ with cutaneous vasculitis, myoclonus, and @PHENOTYPICFEATURE$.	false
+7f8466f377afdbed8964a570930ef03417c3e18b	Intravenous immunoglobulin therapy can be used to achieve disease control in patients with severe weakness or @PHENOTYPICFEATURE$, or in patients with @DISEASE$, but its use is limited by expense.	false
+93216f2099317f6893607086007eba704660c24d	The aim of this study was to investigate the association of chronic periodontitis and @DISEASE$ with certain systemic manifestations and @PHENOTYPICFEATURE$.	false
+0f8002c3a888a37d032518e4c66dc583ffc95044	In this group of Jordanians, systemic symptoms were strongly associated with @DISEASE$, and @PHENOTYPICFEATURE$ were positively associated with both aggressive and chronic periodontitis.	false
+24dafe5d87c5baafe359bd84f9d3d91e3f2d7e99	@PHENOTYPICFEATURE$ were significantly (p < 0.05) more frequent among both of chronic and @DISEASE$ patients (15% and 16%, respectively), compared to controls.	false
+d5a8f36434c6114bd8e14d68733ba10daf6bef6b	For this purpose the Family Assessment Device (@DISEASE$) was given to 40 families with @PHENOTYPICFEATURE$ and hard of hearing children and 20 families with hearing children.	false
+8048671130425310dfcda4d039735361d4028831	Outcomes including all-cause mortality and the development of Fontan associated diseases (@DISEASE$, defined as protein losing enteropathy, cirrhosis, @PHENOTYPICFEATURE$ hospitalization, arrhythmia, or thromboembolism) were assessed from longitudinal assessment.	false
+e7d2c9095761f8ffd4dd71eb5aa07e6cf89397ef	Inhibition of @DISEASE$ retards @PHENOTYPICFEATURE$ progression.	false
+8bd5e9d416345396f32b0a2b1f6a1f9cdccb2f80	Curarized rat fetuses showed @PHENOTYPICFEATURE$, a short umbilical cord, and multiple articular contractures, a phenotype consistent with @DISEASE$.	false
+1c56eed59c060f7f2639838ed556dbafb5db9267	We defined @DISEASE$ as cardiac thrombus, protein-losing enteropathy, arrhythmia, and hospitalization for @PHENOTYPICFEATURE$.	false
+1daeffb3cf28ce27a24617b1ae8b2ff12160c9e4	The authors report a case of post-traumatic intracranial hypertension with @DISEASE$ paroxysmal rise related to subclinical @PHENOTYPICFEATURE$.	false
+4afe90ba2b10f218cc87517887cbd0e0ce87778c	This case demonstrates a unique instance of associated @PHENOTYPICFEATURE$ in @DISEASE$ syndrome.	false
+1e7f19c1012bf823f8bf8b7d36367ef4814032fd	Cold-induced sweating syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, @PHENOTYPICFEATURE$ and skeletal features.	false
+b0a86535f26bffdfad51fcd3e1a8cf47f6f83c51	@DISEASE$ is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and @PHENOTYPICFEATURE$.	false
+a26fe74885773de95a879fb3d5e64f68fcb4d801	Stevens-Johnson syndrome (@DISEASE$) is a severe idiosyncratic reaction, most commonly triggered by medications, which is characterized by @PHENOTYPICFEATURE$ and mucocutaneous lesions, leading to necrosis and sloughing of the epidermis.	false
+142a8b4d77de1ffc949d6843d6cd46bb3955bd70	Stevens-Johnson syndrome (@DISEASE$) is a disease that causes skin exfoliative lesions, characterized by @PHENOTYPICFEATURE$, necrosis, and epidermal detachment.	false
+d63e3ca3bd11bb3636f40c906e48de8324e1213e	Schwartz-Jampel syndrome (@DISEASE$, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+26d8ec0d30298f348044ab7363b1a2c93d7b7b80	@DISEASE$ (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+e6e9d3f08fa9dcdcf2b06d62862a52ab6f0666c4	The diagnosis of @DISEASE$ should be suspected when a child presents with the triad of myotonia, @PHENOTYPICFEATURE$ and skeletal deformities.	false
+35aa18d74c3d41678ec60219e54f6d39f254bbb6	Four weeks after the addition of clobazam, the patient developed @DISEASE$ with a generalized rash, @PHENOTYPICFEATURE$, with liver and kidney involvement, and eosinophilia one week after the initiation of treatment.	false
+abcf5af171e9ff9f2a17f53a550512531142102d	@DISEASE$ is a rare, inherited disorder characterized by myotonia, skeletal deformities, @PHENOTYPICFEATURE$, and growth retardation.	false
+28bf06ff42445bcdfcb25802edc8f7a377e57e92	@DISEASE$ is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and @PHENOTYPICFEATURE$.	false
+11d771879fc22b0e6f0734aa12ad24b5e7150565	@DISEASE$ is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, skeletal abnormalities and @PHENOTYPICFEATURE$.	false
+8c9d810d642343b6007eb99e9a61888b5c5d2385	Sixty-six percent of adult patients with M. pneumoniae-associated @DISEASE$ developed @PHENOTYPICFEATURE$/respiratory symptoms and mucocutaneous lesions on the same day.	false
+fb31bdec69d62a9f175db83851606d57e2771a61	@DISEASE$ (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by @PHENOTYPICFEATURE$ with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893.	false
+7f0f0bd8d80d4e2c6f851f4e6accc0577106edaf	@DISEASE$ (MD), is a rare skeletal dysplasia occurring predominantly in infants characterized by a distinctive long torso and @PHENOTYPICFEATURE$; it is as a result of mutations in the TRPV4 gene.	false
+1df6fa643c0af5845d7af2daae9de8b44f4cf475	@DISEASE$ is defined as a @PHENOTYPICFEATURE$ skeletal dysplasia characterized by dumbell like configuration of long bones, a narrow but normal length of thorax and occasionally a coccygeal appendage similar to a tail.	false
+eef7e74942710d7aca5ec72ed42f5bb7affa9c27	A 12 day-old male neonate had facial dysmorphism, @PHENOTYPICFEATURE$ and coccygeal tail and showed radiological features of @DISEASE$.	false
+d7c63ea937e02aa0b726f77169806d906185b052	Interestingly, increased REST activity is found in several neurological diseases like @DISEASE$ and @PHENOTYPICFEATURE$.	false
+626bb37506c468e71f284b5cfe41b722c6e24b36	The most common neurodegenerative disorders are Alzheimer's disease, Parkinson's disease, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+fb002e6565605e38518c0147351c3a54e2778c1a	@PHENOTYPICFEATURE$ in @DISEASE$: a role in motor and psychiatric impairment?	false
+5430799fdfb3c02d9be73c28f90c44666374a552	This gene is thought to account for a small proportion of patients with a @DISEASE$-like phenotype and @PHENOTYPICFEATURE$.	false
+9408e4ff2ceadaecab41c27279b6fc74a27bdd9f	The patients' diagnoses included amyotrophic lateral sclerosis, multiple system atrophy, @PHENOTYPICFEATURE$, corticobasal syndrome, Parkinson's disease, and @DISEASE$.	false
+99c1c2bc61b2c03763fc09df42743ffcdcfb4605	Several diseases affecting older individuals, including Alzheimer's disease, @PHENOTYPICFEATURE$, @DISEASE$, Parkinson's disease, stroke, Multiple Sclerosis and many others, are the most relevant disorders associated with NDG.	false
+1611c5b8c21d88f7185631d90f046f3b5e0fb3e2	It is neuroprotective in different models of neurological diseases, like @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a733ead46b08b44c88c0c89ef6a5433349f87265	The role of melatonin in multiple sclerosis, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+71148f418e6942065fb175ce51284f615e19077a	Two unrelated patients with @DISEASE$-like phenotype and @PHENOTYPICFEATURE$ are described with homozygous expansions of 47 and 48 CAG/CAA repeats.	false
+080517f0d8c06bd63fbba8845728ee55881ef10f	@PHENOTYPICFEATURE$, Alzheimer's disease, and @DISEASE$.	false
+9999083ff10a4541880254257ab7485af301b6af	Finally, single-nucleotide variants and indels are sometimes detected in the healthy relatives of @PHENOTYPICFEATURE$ patients, while Coffin-Siris syndrome and @DISEASE$ generally seem to appear de novo.	false
+fc70feb63af1429fe18846efed779ebfb17f4c1e	The association between CagA expression in malignant B cells and @PHENOTYPICFEATURE$ response to HP eradication therapy (@DISEASE$) was evaluated in 64 stage IE gastric MALT lymphoma patients.	false
+10afac0baaecae4e49df354d0fdfd0325957d50a	These include holoprosencephaly (@DISEASE$, the most common anomaly of the developing forebrain), nevoid basal cell carcinoma syndrome, sporadic @PHENOTYPICFEATURE$, including basal cell carcinomas, and three distinct congenital disorders: Greig syndrome Pallister-Hall syndrome, and isolated postaxial polydactyly.	false
+827cf793c97a7a7266369945610895d0b5b85aa5	We investigated the status and function of the FHIT gene in the etiology of prostate carcinoma, utilizing human prostate cancer tissues and cell lines and the multistep human prostate epithelial (@DISEASE$) cell @PHENOTYPICFEATURE$ model.	false
+730e553569bd237d0fa57600920c1b50f1810958	Non-craniofacial anomalies, more frequently associated with @DISEASE$ than expected, were @PHENOTYPICFEATURE$ (24%), postaxial polydactyly (8%), vertebral defects (5%), limb reduction defects (4%), and transposition of great arteries (4%).	false
+eac78487eacd653a8aca0f626ff834b6b7987952	The present results suggest that @DISEASE$ induces @PHENOTYPICFEATURE$ formation via reactive oxygen species (ROS) production.	false
+9e96ada666d95b3d73e0ced678d1eeadf0d31b8d	The adduct was 2-3 times more effective, dose-for-dose, than @DISEASE$ alone in inhibiting @PHENOTYPICFEATURE$ growth.	false
+1d67ffae64a44f04221f7054d356986c8f2411a0	A family with hereditary @PHENOTYPICFEATURE$ finally confirmed as @DISEASE$ with P102L mutation in PRNP gene.	false
+6f8295c69b5284e0a167d3b8f701b0e1bfba7464	We describe two brothers with endocardial fibroelastosis, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+26114804b4ead38c5be8a0af12d28e16dd5b0b6e	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, facial dysmorphism (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), @PHENOTYPICFEATURE$, @DISEASE$, and developmental delay.	false
+be45e133799d173407ba6766baff1dfc1cdd4cdb	We describe a patient with a pattern of malformations reminiscent of CHARGE syndrome: choanal atresia, @PHENOTYPICFEATURE$ (micrognathia, hypertelorism, epicanthic folds, and depressed, broad nasal bridge), cardiovascular malformations, @DISEASE$, and developmental delay.	false
+763a549e3307bf2d9ce2332dc4d7988f3b0c63b8	Both had similar mildly @PHENOTYPICFEATURE$ and inguinal hernias; one had unilateral @DISEASE$.	false
+596cbe712e183ed57bda28e6804dd8ce2441c360	Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, @PHENOTYPICFEATURE$, short and/or webbed neck, heart defects, and @DISEASE$ in males.	false
+97725741b1c12eaebc87f622b17b1e374f5d52c5	Noonan syndrome (NS) is an autosomal dominant disorder comprising @PHENOTYPICFEATURE$, facial dysmorphism, short and/or webbed neck, heart defects, and @DISEASE$ in males.	false
+04022f0e8d09adee38ad09b9e5ecbc95483e165e	associated with @PHENOTYPICFEATURE$, microcephaly, facial dysmorphism, clinodactyly, @DISEASE$, micropenis, epilepsy, HPE, DWM, and HSCR.	false
+a696eabaeb94813c8120f769c30a11db60d6ab6b	associated with short stature, microcephaly, @PHENOTYPICFEATURE$, clinodactyly, @DISEASE$, micropenis, epilepsy, HPE, DWM, and HSCR.	false
+8a74211325119056dbbf75dcaf70914a38609809	Physical examination revealed @PHENOTYPICFEATURE$, left hemiparesis, micropenis, and @DISEASE$.	false
+628e51cdbdc632d225cb3be6cbcda205e7613860	He additionally, at admission, presented discrete @PHENOTYPICFEATURE$, bruxism, luxation of temporomandibular joint and @DISEASE$.	false
+273411aa0a2db51a1a993e2894f686ef2c985c3d	We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral @DISEASE$, mental retardation, facial dysmorphism, @PHENOTYPICFEATURE$ with failure of anatomical and biochemical localisation of testes.	false
+306aa62fe9c59031cade64751711355c1706eeae	We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes.	false
+5541a7e35e540975e3bff46b797b875f103fd873	We present monozygotic twin boys of a triplet pregnancy with phalangeal abnormalities, deafness, a caudal appendage and the additional features of @PHENOTYPICFEATURE$, @DISEASE$, mental retardation and facial dysmorphism.	false
+e6b27e9f7895682b133c481554a1a5dd6ddf4838	We present monozygotic twin boys of a triplet pregnancy with phalangeal abnormalities, deafness, a caudal appendage and the additional features of short stature, @DISEASE$, mental retardation and @PHENOTYPICFEATURE$.	false
+220da72cff9f394fef103990ee3d0f367101a6c4	Phenotype is characterized by short stature, congenital heart defects, @PHENOTYPICFEATURE$, skeletal and ectodermal anomalies, @DISEASE$, mild to moderate developmental delay/learning disability, and tumor predisposition.	false
+66289b30b71e2857abea5e028c3dcea2e60cfb75	Phenotype is characterized by @PHENOTYPICFEATURE$, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, @DISEASE$, mild to moderate developmental delay/learning disability, and tumor predisposition.	false
+2d450bb7fb7cdb8bda5d671809b74755ccb94294	The missense mutation L238Q, when paired with a nonsense mutation, is associated with significant, late-onset brain disease: psychiatric disorder, @PHENOTYPICFEATURE$, and general decline starting at a later age than in @DISEASE$ with a mutation-related rate of GAG accumulation and its pathologic sequelae.	false
+6e0180b79c6273b36cc1b393bad925d9f788130f	Four pediatric patients with diseases potentially curable by bone marrow transplantation (BMT)--i.e., common variable @PHENOTYPICFEATURE$, Wiskott-Aldrich Syndrome (WAS), mucopolysaccharidosis type VI, and @DISEASE$ received a conditioning regimen consisting of busulfan and cyclophosphamide prior to BMT from HLA-identical, mixed leukocyte culture (MLC)-unreactive siblings.	false
+346a631e5d397de2c29e3f00f29654d75113241e	@DISEASE$ is extremely rare and is characterized by the triad of spontaneous periodic hypothermia, hyperhidrosis and @PHENOTYPICFEATURE$, resulting in neurological and psychological disorders.	false
+93c0779fd3135892aadf33ce0e4e8270eae0cf7e	Shapiro syndrome is extremely rare and is characterized by the triad of @DISEASE$, hyperhidrosis and @PHENOTYPICFEATURE$, resulting in neurological and psychological disorders.	false
+4522c10eb6694078c8adb279e84697c492571e06	A patient with @DISEASE$ who had both a lipoma and @PHENOTYPICFEATURE$ is described.	false
+e6ffd4b80d4870c015cd4574d06fb4412be87015	We present a patient diagnosed with @DISEASE$ without @PHENOTYPICFEATURE$.	false
+b4acfdeed6a1642fd5bcb79e9ca518ee9ad17522	The Authors report a case of @DISEASE$ associated with @PHENOTYPICFEATURE$ (Shapiro's syndrome).	false
+fd2003f00bcd46961295863c1a012e917617fbc1	We studied a patient with @DISEASE$, @PHENOTYPICFEATURE$ (Shapiro's syndrome), polydipsia polyuria, and hyponatremia.	false
+9b17be612f2d2fd3399b1c356feaa46591c57060	@DISEASE$ is an extremely rare condition consisting the clinical triad of recurrent hypothermia, hyperhydrosis and @PHENOTYPICFEATURE$.	false
+5561238516df4950b3d73aece84746dc35792b49	Subtotal @PHENOTYPICFEATURE$ with recurrent hyperhidrosis-hypothermia (@DISEASE$).	false
+65be10fdd80729b41726a95aa4da9145b41792e3	Hypothermia and @PHENOTYPICFEATURE$ in @DISEASE$: too cold, even for a Viking.	false
+6720e67596319c44832c9042608414e8bf7b8422	described the first two cases of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+6f2c80c710525a18ad621c739469d4fd27e31b72	Episodic hyperhydrosis with @PHENOTYPICFEATURE$: a rare case of @DISEASE$.	false
+cbf110db297f5c797fda55568d8073e1a96a9a72	@DISEASE$ is a late-onset, slowly progressive cerebellar syndrome with @PHENOTYPICFEATURE$ that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature of RNA foci formation in postmortem tissues.	false
+8d3d665e247081cfef754600b166e971fca7fdb5	Tietz/Waardenburg type @DISEASE$ associated with posterior @PHENOTYPICFEATURE$ in two unrelated patients with novel MITF gene mutations.	false
+c7d6ccf77defa62d012b9ec8a66608a72c310821	@DISEASE$ with acoustic neuroma and @PHENOTYPICFEATURE$.	false
+2941b53219aeeffeb7dd2d0b9e43a4250cd09608	In children, high urine dopamine was found in cases of neuroblastoma, @DISEASE$, @PHENOTYPICFEATURE$, phaeochromocytoma, Menkes disease and rhabdomyosarcoma of the bladder.	false
+5aecca0c02c78174c9c26ab9e4db955be958d322	@PHENOTYPICFEATURE$ and a prolonged QT interval were frequent in @DISEASE$ and facioscapulohumeral MD.	false
+20e19cc9091c9c45da31b78a31fb247cd36e11d4	Structural and electrical @PHENOTYPICFEATURE$ are prevalent in asymptomatic adults with @DISEASE$.	false
+96ddeb0540f7aa2c1321292af0fa9a328658e22e	Misregulation of miR-1 processing is associated with @PHENOTYPICFEATURE$ in @DISEASE$.	false
+11a456a39768089ba9e9021f40f0f84fafdc0a92	@PHENOTYPICFEATURE$ and cytosine-thymine-guanine trinucleotide repeats in @DISEASE$.	false
+80f096d45faaf269991663fc52b3afc47530ec6e	Relation of @PHENOTYPICFEATURE$ and CTG-repeat size in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+9db1ddb1689b26c6f680adb23e746db0790fd10b	Prevalence of structural @PHENOTYPICFEATURE$ in patients with @DISEASE$ type I.	false
+f3df5563bdbd51263fa61b9de2efa34c245c2fa9	@PHENOTYPICFEATURE$ and cognitive decline in @DISEASE$: case report and literature review.	false
+9a3ba4741708f389c7560af8c62f8b79250a91af	Ocular manifestations of @DISEASE$ are varied, but can progress from mild visual impairment to @PHENOTYPICFEATURE$.	false
+65398f40a3c0e98a78eba8537990592734dfe212	Unilateral @PHENOTYPICFEATURE$ preceding Coats disease in a girl with @DISEASE$.	false
+67794af3694a0a87bd2d0e96c9be885097e90507	The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and @DISEASE$ and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, @PHENOTYPICFEATURE$, and upturned nose.	false
+9ca5f5945b65898adc5b8ae349708054ab1fe9d8	Fully automated assessment of mammographic density (@DISEASE$), a biomarker of @PHENOTYPICFEATURE$ risk, is being increasingly performed in screening settings.	false
+b99ff108baa3f1c7754c2962309f87304f6d7ded	2) To assess if individuals with unexplained ear fullness without @PHENOTYPICFEATURE$ differ significantly from individuals with ear fullness due to M?ni?re's disease (@DISEASE$).	false
+a7c959e2624931684d5869939c9ef6c52b030d49	When volumetric @DISEASE$-@PHENOTYPICFEATURE$ risk associations are investigated, NDV can be used as a measure of adiposity when BMI data are unavailable.	false
+08bf280cb1ca2b593415fa609815026e943cab2f	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$ (BT), cerebral palsy (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (@DISEASE$), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+c96d09d7a177001aab5312d99763106dcf4bd66f	We report here eight patients from seven unrelated families affected by a novel and relatively mild form of @DISEASE$ (LGMD2) with onset in the first decade of life and characterized by @PHENOTYPICFEATURE$ but normal brain imaging.	false
+05e879531d0ef5ff3bd6bf8921e7e14439ead3bb	22q11.2 deletion in patients with @PHENOTYPICFEATURE$ and @DISEASE$22q syndrome phenotype.	false
+27f49718209fc1cf9989819f1270cb916aaf7799	We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral @DISEASE$, mixed symmetrical severe to profound hearing impairment, and partial @PHENOTYPICFEATURE$.	false
+eba9fff5a31dd92a62453142ef5771450f8008ae	However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-@DISEASE$, syndactyly and @PHENOTYPICFEATURE$ have increased.	false
+14e4e9a30b2a1c2b739ab0d99512d89573ca23b5	HOXA2 biallelic mutations were also described in an inbreed family with autosomal recessive @DISEASE$, hearing impairment and incomplete @PHENOTYPICFEATURE$.	false
+86a4b061868d1fbdb7ab82254f434f030572f455	The loss of cartilage tissue due to trauma, @PHENOTYPICFEATURE$ surgery or congenital defects, such as @DISEASE$ and anotia, is one of the major concerns in head and neck surgery.	false
+d05ecba74b772ebe25317acf77b2f9f0b68150f1	We identified 11 syndromes associated with @DISEASE$ and 26 syndromes associated with hypospadias, for which co-localisation of (benign and malignant) @PHENOTYPICFEATURE$ with (major and minor) syndrome characteristics was determined.	false
+c14834c12342b8e06c7a9e1a29cfb049483bbcc3	We report on two unrelated Brazilian boys who have craniofacial and @PHENOTYPICFEATURE$ resembling those reported with @DISEASE$.	false
+4bda21b7812d998c5d624bf13dbdcebf03b67186	The primary effects have been @PHENOTYPICFEATURE$, agitation, hyperactivity, GI upset, tremor, @DISEASE$, tachycardia hypertension, and seizure.	false
+1fc59938cbdaa60252ae9d6cbb53ae250244eebe	A high frequency of the following was noted: abnormal smooth pursuit eye movement, @DISEASE$, snout reflex, incoordination, and signs suggesting @PHENOTYPICFEATURE$.	false
+046b9af9c86fd5b9ae08a1efd49d6d9627ae2872	The neurological findings were @DISEASE$, Babinsky, Hoffman and @PHENOTYPICFEATURE$.	false
+3c6073bd392355511a9e92d7cd1dec6743540b69	Physical and neurological examinations revealed bilateral conjunctival hyperemia, fine crackles in the lower lungs, cutaneous @PHENOTYPICFEATURE$, horizontal gaze evoked nystagmus, bilateral moderate sensorineural deafness and mild @DISEASE$.	false
+0852e53dc5a839b25fdc516263ab0715aa857ddb	Examination revealed alternate @PHENOTYPICFEATURE$ and irritability, as well as nystagmus and @DISEASE$.	false
+7e2478000e8643e02ea06179485b90df1c767de3	Dominant clinical features were pallhypaesthesia, ataxia, signs of @PHENOTYPICFEATURE$ in combination with @DISEASE$ and progressive para- to tetraspastic paresis.	false
+5e3859247c9c085382ea92d99f3948f0f4fb647c	Significant associated adverse reactions included syncopal seizures (3), cerebrovascular accident (1), deep vein thrombosis (1), autonomic @DISEASE$ (3), lethargy/@PHENOTYPICFEATURE$ (3), and nausea/vomiting (1).	false
+b957a5a0dcae2e2dbbc2f24cd27ae1e626462363	Clinical studies revealed significant spasticity, @DISEASE$, and delayed central conduction, in addition to @PHENOTYPICFEATURE$.	false
+0a516f9bf5332108102b18f10a762c00e87271e1	The significance of the @DISEASE$ is uncertain, but raises the possibility of minor central involvement as well as @PHENOTYPICFEATURE$.	false
+623516b9aa4b8e145de0ba1d60b2d477731e68d8	He presented skin eruption, aphtha, @PHENOTYPICFEATURE$ (E3, V4, M6/GCS), meningeal sign, @DISEASE$, and bilateral papilloedema.	false
+fc26ad0e37b9f94a24df05c740e3e6f1e186e11e	All patients suffered from @PHENOTYPICFEATURE$ movement characterized by blepharospasm and @DISEASE$, and had atrophic changes of bilateral basal ganglia which were recognized by brain CT scan.	false
+213941669160f0b2f377860bc657dc55a146f551	: Unilateral left-sided madarosis and facial @PHENOTYPICFEATURE$ were observed in a patient undergoing botulinum A toxin injections for the treatment of left @DISEASE$.	false
+229372015e4ae7b365c16261c7b88e053b52c8b2	In men with @PHENOTYPICFEATURE$, but not normal weight men or women, those in the highest tertile of @DISEASE$ were less likely to be hypertensive (0.53, 0.36, 0.78, P-trend?=?0.001) compared with the highest tertile.	false
+9868c4a5696be7f0fd05b2567631e7de6b0e9bad	The patients suffered from recurrent fractures, low bone mass, mild bone deformities and @PHENOTYPICFEATURE$, but did not have impaired hearing or @DISEASE$.	false
+1e466981bf6f174df47977833b878c79eb681c5e	We showed that duplication at 4q21.2q21.3 is associated with moderate ID, cognitive deficits, developmental delay, language impairment, memory and attention problems, facial dysmorphisms, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a0b5f2e260eef4ddacc17b639185ffa93f3d1957	To measure the Tp-e value, which shows the spatial distribution of cardiac repolarization and is defined as a possible predictor for @PHENOTYPICFEATURE$ among patients with aortic sclerosis (@DISEASE$), and to compare this parameter's length to QTc length within the same population.	false
+303f7b19b4e1686eb84762f203654ec243e06174	The bile of 100 patients with @PHENOTYPICFEATURE$ (suspected of having @DISEASE$) was collected from the duodenum at the time of esophagogastroduodenoscopy and examined for cholesterol and calcium bilirubinate crystals.	false
+e6cf31d713fc19d1aea5993a016649df3c4a6f40	The 5 diagnoses that received the highest ranking from the PC physicians surveyed were @PHENOTYPICFEATURE$, gastrointestinal bleeding, gastroesophageal reflux disease (GERD), biliary tract/@DISEASE$, and breast disease, all of which are included in the general surgery curriculum.	false
+fed92c9316b8d9b34b202bc9a7b0efca383e76b7	Pregnancy hospitalizations with the following diagnoses were identified: hepatitis B, @PHENOTYPICFEATURE$ C, @DISEASE$/cholelithiasis, liver disorders of pregnancy, chronic/alcohol-related liver disease, biliary tract disease, and HELLP (hemolysis, elevated liver enzymes, low platelet count) syndrome.	false
+3ee0252c9e4e541bb4e18bb9bb981552a8d26030	Esophageal @PHENOTYPICFEATURE$, associated with @DISEASE$.	false
+d89d44d8cb460f141f596b06b9bbbfc85d64c67c	@DISEASE$ (GBD) is a common cause of upper @PHENOTYPICFEATURE$.	false
+a4f8fb404e39e4ccbd10c974e1aee89540186263	The presenting symptoms are often nonspecific and include nausea, @PHENOTYPICFEATURE$, epigastric pain and a history of @DISEASE$.	false
+944fe8715959a86da18f9b4a89a4e563026d6e8c	The most common grade ?3 toxicities were hypertension (n=11, 28%), diarrhoea (n=7, 18%), @PHENOTYPICFEATURE$ (n=4, 10%), and @DISEASE$ (n=3, 8%).	false
+76f8059e6a22c84eb72c9f8ea9ce1d8864be75c0	Pulmonary @PHENOTYPICFEATURE$ are frequently present in patients with respiratory disorders, including chronic obstructive pulmonary disease, @DISEASE$, sarcoidosis, neuromuscular or chest wall disorders, and disorders of ventilatory control including sleep apnea syndromes and obesity hypoventilation syndrome.	false
+47ab68981a9821129bcf758737b4a27b303d36ea	Thus, TWA monitoring may be useful for ultra-short-term prediction of life-threatening @PHENOTYPICFEATURE$ risk upon emergent reperfusion in @DISEASE$ patients.	false
+5082fd460456e646bd4aee8ab7766bfe8fa27e15	Acute coronary syndrome (@DISEASE$) leads to clinical symptoms such as chest pain, dyspnea, and @PHENOTYPICFEATURE$.	false
+effde6ada42702519fa9f04560685ca6532ee69c	Nasotracheal intubation for a patient with @DISEASE$ can be a challenge because of @PHENOTYPICFEATURE$ anatomy.	false
+f66c8cf5408a336609a073f267022b5cb89903a8	Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital proptosis, and midfacial hypoplasia and is related to the acrocephalosyndactylies (@DISEASE$) with @PHENOTYPICFEATURE$.	false
+6bdbf9a69d04fd44a37b15aa6916e66c26b135a9	Acrocallosal syndrome (@DISEASE$) is characterised by postaxial polydactyly, hallux duplication, @PHENOTYPICFEATURE$, and absence of the corpus callosum, usually with severe developmental delay.	false
+1aaa207ef6898779158252f378baa1c7541d9b94	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by @PHENOTYPICFEATURE$, skull asymmetry, mild syndactyly, and facial abnormalities.	false
+1a418d1c203eb74159257bfd2e4e9eb53efeb9aa	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and @PHENOTYPICFEATURE$.	false
+0fe344a3366d8b7d44908981ea4e9894c355f91a	@DISEASE$ (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-@PHENOTYPICFEATURE$, symmetrical syndactyly of hands and feet.	false
+d321e1c68e31435e1a9b71d956af9351ee3f8e18	This observation provides a potential explanation for why the limb phenotypes, observed in type I Pfeiffer and Muenke syndromes, are less severe than the @PHENOTYPICFEATURE$ observed in @DISEASE$.	false
+ea2fc5052da98f1b164e99cb0658bac31e80ee20	@DISEASE$ is a clinically distinctive condition characterized by craniosynostosis, mid-@PHENOTYPICFEATURE$, and severe symmetrical syndactyly of the hands and feet.	false
+60f7aaaef68f69c45a31220d930b6a6dc5ff5795	@DISEASE$ is characterized by craniosynostosis and @PHENOTYPICFEATURE$ and is primarily caused by FGFR2 +/P253R and +/S252W mutations.	false
+f78e41495c083133797c6f68052fcad88fda2ca6	@PHENOTYPICFEATURE$ and @DISEASE$: Is there a link?	false
+b3ced59076c6766cbe1aeba18ffd49b5f847a490	AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, @PHENOTYPICFEATURE$ susceptibility, Pompe disease, @DISEASE$, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates.	false
+b7fe7857158ed09c8293cfed88f4ff01490a17bc	Multiple system @DISEASE$ with massive hypothalamic-sellar involvement and @PHENOTYPICFEATURE$.	false
+0d5b431d1466df3697aa0ad48c38f3a235e11363	All previously reported cases of @DISEASE$ are reviewed and a new case with diabetes insipidus, partial @PHENOTYPICFEATURE$, histiocytic skin lesions, and retro-orbital tumors is presented.	false
+de6135dadf9aea288a3d83364af64c07b0ecb709	@DISEASE$ and intracranial @PHENOTYPICFEATURE$; association of an astrocytoma of right temporal lobe with osteitis deformans.	false
+debc5cbc28f039b7c58dfe267fad40ad2b051656	Paget's disease and intracranial @PHENOTYPICFEATURE$; association of an astrocytoma of right temporal lobe with @DISEASE$.	false
+e955890b76be091bc21723d44e199c98965bc879	Two melanomas, one GIST stromal @PHENOTYPICFEATURE$ and one case of @DISEASE$, were recognized as well.	false
+13f88621a9f5972513570e58892947240d800915	Only one @PHENOTYPICFEATURE$ occurred in a lesion of @DISEASE$.	false
+de0793a62e325c415c81c145c7a9655d86796368	All but one @PHENOTYPICFEATURE$ developed in a site of osteoblastic or mixed osteoblastic and lytic @DISEASE$.	false
+517a3f0e4ecb060608cd6bddc4b55c18e29e847f	Analysis of osteosarcomas from patients with @DISEASE$ revealed that these @PHENOTYPICFEATURE$ also undergo LOH in this region.	false
+6a1a87e72f8a31da14ebca80143a69a1795fb634	BSP was significantly increased in patients with @DISEASE$, primary and secondary hyperparathyroidism, and also in subjects with @PHENOTYPICFEATURE$ without skeletal involvement.	false
+17a9fe25def036ca8fe15f9400224aba5337735a	Defects arose following excision of scar @PHENOTYPICFEATURE$, arterio-venous malformation, @DISEASE$, squamous cell carcinoma, and Fournier's gangrene, respectively.	false
+1a7f39f30ddf8ec5153184f2d59299938c433a77	Sarcomas, medullary @PHENOTYPICFEATURE$, and possible also @DISEASE$, may be particularly susceptible to pregnancy-related exposure.	false
+1ade0ffcf115a23c4340669bf91044bace89f2b1	They are used in @DISEASE$ and @PHENOTYPICFEATURE$ bone disease and recently also in osteoporosis.	false
+e6f1fe358a85c0012a51d5ac533321cb83720724	Other myelogenous @PHENOTYPICFEATURE$, such as plasmocytomas, are very rare in association with @DISEASE$.	false
+4ab6be3df12a6b7da7273f16a963c75e6e11b1de	Polydactyly, @PHENOTYPICFEATURE$, extra nipple, and cleft palate are more frequently observed in @DISEASE$ with mutations in CDKN1C.	false
+36bf7b89aaf91b74713d7f87e62e58fbc09a1c70	Interestingly, a recent study discovered that loss of function or gain of function of CDKN1C also causes clinically opposite disorders, @DISEASE$ and IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and @PHENOTYPICFEATURE$) syndrome, respectively.	false
+8a1761c3640df2f5a67d2322c7115fb7748e4932	Symptoms of pseudohypoparathyroidism type 1B may be absent at diagnosis of @DISEASE$, yet prolonged subclinical hypocalcemia and/or hyperphosphatemia can have negative consequences (eg, @PHENOTYPICFEATURE$, myocardial dysfunction).	false
+4a0bc2be652236b655a516ea8857dbaaa8258641	Hemihypertrophy is also reported as part of the @DISEASE$ which has as its cardinal features omphalocele, macroglossia and gigantism with hypoglycemia, organomegaly, @PHENOTYPICFEATURE$, hemihypertrophy, and embryonal tumors occurring less frequently.	false
+0ab834fe8b7958283106aeafe9c0d2f4c8a556d7	We present a 2-month-old pediatric patient with @DISEASE$ and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, @PHENOTYPICFEATURE$, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia.	false
+221f984e98570662e4f57a8697a9e2c4d91b6ddc	@DISEASE$ in association with posterior @PHENOTYPICFEATURE$.	false
+9d8a18fb7f869ff1a026e386a190b128f0f5a20f	Beckwith-Wiedemann syndrome (@DISEASE$) is a distinct overgrowth condition characterized by macroglossia, abdominal-wall defects, visceromegaly, embryonic tumors, hemihyperplasia, ear anomalies, @PHENOTYPICFEATURE$, and neonatal hypoglycemia.	false
+591e9477ef274332e1a9580f735df533629a5782	@DISEASE$ (BWS) is a distinct overgrowth condition characterized by macroglossia, abdominal-wall defects, visceromegaly, embryonic tumors, hemihyperplasia, ear anomalies, @PHENOTYPICFEATURE$, and neonatal hypoglycemia.	false
+b613613e203ad11694dc57eb1dfaa87381e56cdf	@DISEASE$ is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, @PHENOTYPICFEATURE$, organomegaly, hypoglycemia, and cancer predisposition.	false
+42704b05c667d3a2c76eae63a8f099688ffc4579	Homozygous mutations in CLN8 are associated with two distinct phenotypes: progressive epilepsy and @PHENOTYPICFEATURE$ (EPMR), first identified in Finland; and a variant of @DISEASE$ (v-LINCL) described in a subset of Turkish and Italian patients.	false
+c95aad7875da9d6c1e19a0e5628656d8429fb9f0	[@DISEASE$ as a possible cause of @PHENOTYPICFEATURE$ in children].	false
+d168d4f84b8edbe6078fa5ad0b615025c977d392	Of interest was the low incidence of @DISEASE$, @PHENOTYPICFEATURE$, ocular disease, myocardial and peripheral vascular disease.	false
+91308218c7cfa9cc143c620e2a4081d4ba4a0319	There were 45 patients (8.8%) of @PHENOTYPICFEATURE$ of the gall bladder among 506 patients of @DISEASE$ admitted during January 1993 to June 1995.	false
+27298acb60506aa0342dfa247efac541f47e97bf	X-linked @DISEASE$ and associated intellectual disability, short stature, microcephaly, @PHENOTYPICFEATURE$, digital and genital abnormalities define novel Xq25q26 duplication syndrome.	false
+924779d3de59a1ff53cd2ca6159d57697b7b900d	X-linked @DISEASE$ and associated intellectual disability, short stature, microcephaly, cleft palate, digital and @PHENOTYPICFEATURE$ define novel Xq25q26 duplication syndrome.	false
+dcfdca63e0df588100b3308c5e4fc9463dbd0aca	In this article, we analyze primary and secondary osteoporosis, rickets, osteomalacia (nutritional and hereditary vitamin D-dependent, hypophosphatemic and that due to renal tubular abnormalities), renal osteodystrophy, sclerosing bony disorders, and some genetic bone diseases (hypophosphatasia, fibrous dysplasia, @PHENOTYPICFEATURE$, juvenile Paget disease, familial expansile osteolysis, and @DISEASE$).	false
+37bc07807c2cee7d0504ffc98b70ca5a539439e8	In adult life, mutations in the Wnt pathway components are associated with many diseases, such as polyposis coli; @DISEASE$ (OPPG); @PHENOTYPICFEATURE$; neural tube defects, cancer and many others.	false
+ed8ffa499aac8dff9f2bdbde3ffd8057097b85de	@DISEASE$ is a rare sleep disorder that mainly affects adolescents and is characterised by relapsing-remitting episodes of severe hypersomnia, @PHENOTYPICFEATURE$, apathy, derealisation, and psychiatric and behavioural disturbances.	false
+9c8e804816ac63ec3eda405639d71bc9caac4d25	We report the case of a 19-year-old male student with a @DISEASE$ who was referred to our sleep laboratory during an episode of hypersomnia, hypersexuality, @PHENOTYPICFEATURE$ and bizarre behaviour.	false
+3e14634ffc90d9d76782cc29765dc08e115eb31a	@DISEASE$ is characterized by relapsing-remitting episodes of severe hypersomnia, @PHENOTYPICFEATURE$, apathy, derealization and behavioural disturbances.	false
+71e51e98de8a71d3a9bf985094156b72f8e79285	@DISEASE$ is a recurrent hypersomnia associated with symptoms of hyperphagia, hypersexuality, and @PHENOTYPICFEATURE$.	false
+113e3165aa5cc590c47c116a40abe26a8b089a8c	@DISEASE$ (KLS) is a rare, homogeneous, debilitating sleep disorder characterized by episodic hypersomnia, @PHENOTYPICFEATURE$, and behavioral changes.	false
+1d8265c2184f46ece82c8ecc2f62773ffeb4b7be	@DISEASE$ (KLS) is a rare sleep disorder causing recurrent symptomatic episodes of severe hypersomnia, @PHENOTYPICFEATURE$, apathy, and derealization.	false
+5d7fbe0bb97d94794e4463428e84e66fd70f5581	Further characteristic manifestations of the syndrome (also called Wolf or @DISEASE$) are growth failure, microcephaly, prominent glabella, hypertelorism, beaked nose, poorly differentiated and low set ears, cardiac and @PHENOTYPICFEATURE$ and hypospadias.	false
+c32c6b7a6db1f9935010d76785bd874d993a54be	@PHENOTYPICFEATURE$ has not previously been reported in children with @DISEASE$ (WHS).	false
+5e2511f868773e5a939986f338ef3422c397e0e6	@DISEASE$ and @PHENOTYPICFEATURE$: New findings and a review of the literature.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+bd86d8ee834b3590108fb11948d5c14ee67f7dfd	The various etiologies include idiopathic @DISEASE$, multiple system atrophy, @PHENOTYPICFEATURE$, degenerative joint disease, and drugs.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+ff1aa60d4b4c89791ad1bc09b3b7fab00fb567be	@DISEASE$ and @PHENOTYPICFEATURE$: moving forward.	false
+2c3c3ac3c92044db1f1ead29ad41e0f8f297a57e	@DISEASE$: not just a @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+8ca4b2013e301422dc31069e1f25b016fcb0fbaa	Relevance to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1f9c34e0711f7712d82538987f5d12ecfb9a155e	@DISEASE$ (PD) is a common @PHENOTYPICFEATURE$.	false
+1c564af068ae45eae8debfe2d5e09f4e44734007	[@DISEASE$--a @PHENOTYPICFEATURE$].	false
+12ae02cd2ab8c5cac93bcdfccf28f22696173656	Most cases are due to 3 common disorders: @DISEASE$, axial @PHENOTYPICFEATURE$, and degenerative joint disease.	false
+efb65265ff787930a4daf985bbb82093acbd6311	Macroscopic abnormalities were identified in 70% of cases and included contusions, old infarcts, hippocampal sclerosis, cortical dysgenesis, vascular malformation, @DISEASE$, neurodegenerative brain disease, and @PHENOTYPICFEATURE$.	false
+c6d55f1855aeae66b910e5061d3781131294a405	From these results and our previous observation that, according to the SA classification of gliomas, only oligodendrogliomas or oligo-astrocytomas may not show CE, we propose that for retrospective studies: 1) tumors diagnosed according to the Ste-Anne classification as @DISEASE$ or oligo-astrocytoma be regrouped in a unique category, 2) independent of their histological type and grade according to the WHO, gliomas that do not show CE be regrouped with SA oligodendrogliomas grade A, 3) concerning gliomas that show CE on MRI: oligodendrogliomas or oligo-astrocytomas WHO grade II or III, as well as WHO secondary glioblastomas or glioblastomas with an oligodendroglial component, be regrouped with SA oligodendrogliomas grade B; however tumors that show ring-like CE surrounding large foci of necrosis and finger-like "peritumoral" @PHENOTYPICFEATURE$ should be excluded or analysed separately.	false
+ab9a0e5b3b6fe4ed21e09baa2ae6584108437215	Some lesions and topics covered during the symposium include: proliferative lesions from various fish species including ameloblastoma, gas gland hyperplasia, nodular regenerative hepatocellular hyperplasia, and malignant granulosa cell tumor; spontaneous cystic hyperplasia in the stomach of CD1 mice and histiocytic aggregates in the duodenal villous tips of treated mice; an olfactory neuroblastoma in a cynomolgus monkey; various rodent skin lesions, including follicular parakeratotic @PHENOTYPICFEATURE$, adnexal degeneration, and epithelial intracytoplasmic accumulations; @DISEASE$ and microgliomas in rats; a diagnostically challenging microcytic, hypochromic, responsive anemia in rats; a review of microcytes and microcytosis; nasal lesions associated with green tea extract and Ginkgo biloba in rats; corneal dystrophy in Dutch belted rabbits; valvulopathy in rats; and lymphoproliferative disease in a cynomolgus monkey.	false
+8b43b3b6540079b8aa2f294dd57df7e8da5b2639	We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and @PHENOTYPICFEATURE$ chorioretinal lacunae in both fundi typical of @DISEASE$.	false
+d2f41c69ecece9ff933af4fd3561c6c1cdac4167	The 10-year odds of death (@DISEASE$) from breast cancer for patients with medial compared with lateral sector @PHENOTYPICFEATURE$ ranged from 1.2 to 1.5 depending on stage.	false
+01edacf6df6f72292b923bb266e1e1d7347b84e4	Trichomegaly, @PHENOTYPICFEATURE$, and @DISEASE$ in two siblings.	false
+2e90fc8b92ab26186939644b3011b8685cfb73d9	We report the case of a 29 year-old male with of @DISEASE$, who developed two episodes of @PHENOTYPICFEATURE$ in his right ear after splenectomy due to repetitive hemolytic crisis.	false
+1a7c1b6a572142ce245f689d08bd38f49aac2acd	Other causes of @PHENOTYPICFEATURE$ like thalassemia syndromes, @DISEASE$, G6PD deficiency were excluded by appropriate tests.	false
+fe0b1bf940a39534d91e3ddec573969344162952	Such changes seem characteristic of an unusual syndrome previously referred to as "@PHENOTYPICFEATURE$ in @DISEASE$", or "anterior horn cell disease with pontocerebellar hypoplasia".	false
+fd132b2130bb7189b7879d41fca44e8524e9fa39	Spinal muscular atrophy with respiratory distress type I (SMARD1, MIM #604 320) is an uncommon variant of @DISEASE$ type I. Distinguishing features include diaphragmatic palsy, early-onset distal limb wasting, and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+bbd36ac76461286f671edab2eadb5f69320b7233	In case of @DISEASE$ symptoms of hypotonia and @PHENOTYPICFEATURE$ may be present at birth, but become progressive during the first months of live.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+e9267c063c6eacaf3093c320ac11c97d680fcfc9	However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, @PHENOTYPICFEATURE$) have been designated in the literature as @DISEASE$ plus forms.	false
+6ab47adcaa329e73e8d702807417ce68cfd495ec	Fasciculation of the tongue, neurogenic patterns on an electromyograph, and an empty posterior fossa on a cranial computerized tomogram suggested a motor neuron disorder resembling @DISEASE$ with @PHENOTYPICFEATURE$.	false
+622e8834af25b1da3dbce1c8367e2edd26ff0797	This case supports the concept that @PHENOTYPICFEATURE$ may develop as a manifestation of the neuronal abiotrophy of @DISEASE$.	false
+7abb607b0118df0da6970cf861fd0d2d038500e6	The AI is also seen as part of multi-organ abnormalities, e.g. with @DISEASE$, hypothalamo-hypophyseal insufficiency and @PHENOTYPICFEATURE$.	false
+99e568cce3e8545c7dc8b610888377e993dedd27	To report a late-onset @DISEASE$ that revealed a familial neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation.	false
+0f28da7393c946e25a434fa2af7e52cbf9366f8c	Isolated late-onset @DISEASE$ revealing a familial neurogenic @PHENOTYPICFEATURE$, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.	false
+e4cfcf265dfca49184dcaadd03c9dd06f17ef6b9	It is characterised by @DISEASE$, insulin resistance, diabetes mellitus, cardiomyopathy, @PHENOTYPICFEATURE$ and hypogonadism.	false
+0fb98e295e1dc99ceaa3b60f92af43d583f7f949	The majority of the genetic causes of @PHENOTYPICFEATURE$ (ar) cone dystrophy (CD) and @DISEASE$ (CRD) are currently unknown.	false
+a4cc928f6f37c7802c4a4ddda9ea5074ba617935	The major features of this syndrome are @DISEASE$, polydactyly, obesity, learning disabilities, hypogonadism in males, @PHENOTYPICFEATURE$, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness.	false
+07d5bb04e2c7423a148c3e74c0d4d7b07a1c7fb5	Alstr?m syndrome is an autosomal recessive disease with multisystem involvement, including @DISEASE$, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and @PHENOTYPICFEATURE$.	false
+dbd749b9eac0369f591748d4248481e11fa07cfc	In the group of patients who had vasculopathic risk factors only, with no other significant medical condition, 10% of patients (8/80) were found to have other causes, including midbrain infarction, @PHENOTYPICFEATURE$, inflammation, pituitary apoplexy, and @DISEASE$ (GCA).	false
+1c31be96f4d3b08a3cbe7920cd670bad42d2f156	Transient bilateral corneal oedema due to ocular @PHENOTYPICFEATURE$ is reported in @DISEASE$.	false
+a07f00dd782220a9774d868d1f8c5a0ddbfec341	We recommend that such a diagnosis should be considered in women presenting with long-lasting fever of unknown origin, even in the absence of @DISEASE$ and the clinical evidence of @PHENOTYPICFEATURE$.	false
+8d7cce33429548f069eabdd8e49c6bb948867354	Secondary causes include temporal or @DISEASE$, subdural hematomas, central nervous system (CNS) @PHENOTYPICFEATURE$, strokes, and CNS infections.	false
+53a11e0667a40f852ee92f7286903dddf0a43017	Myelodysplastic syndromes (MDS) and MDS/myeloproliferative @PHENOTYPICFEATURE$ (MDS/MPN) can be associated with @DISEASE$ (GCA).	false
+da04868121fb4e2ae634d064bc5fd3d9343c236c	The etiological differential diagnosis of painful ophthalmoplegia is extensive and consists of numerous sinister etiologies including vascular (eg, aneurysm, carotid dissection, carotid-cavernous fistula), neoplasms (eg, primary intracranial @PHENOTYPICFEATURE$, local or distant metastases), inflammatory conditions (eg, orbital pseudotumor, sarcoidosis, Tolosa-Hunt syndrome), infectious etiologies (eg, fungal, mycobacterial), and other conditions (eg, microvascular infarcts secondary to diabetes, ophthalmoplegic migraine, @DISEASE$).	false
+4bf05190177982d45bfeee3c23fd1d16b0c11285	The etiological differential diagnosis of painful ophthalmoplegia is extensive and consists of numerous sinister etiologies including vascular (eg, aneurysm, carotid dissection, carotid-cavernous fistula), @PHENOTYPICFEATURE$ (eg, primary intracranial tumors, local or distant metastases), inflammatory conditions (eg, orbital pseudotumor, sarcoidosis, Tolosa-Hunt syndrome), infectious etiologies (eg, fungal, mycobacterial), and other conditions (eg, microvascular infarcts secondary to diabetes, ophthalmoplegic migraine, @DISEASE$).	false
+3d9a17661368cde1b0e4e4ef5f30d7989f7fbc9e	Therefor in a few cases with high spinal cord lesion suspected to be caused by a malignant @PHENOTYPICFEATURE$ the @DISEASE$ may be the real cause, if a spinal mass is excluded.	false
+61abfc0070dd1a995e054e997594e32250b11682	Referred otalgia may be caused by @PHENOTYPICFEATURE$; dental abnormalities or infections; temporomandibular joint dysfunction; sinus, pharyngeal or salivary gland infections; @DISEASE$; cervical arthritis, or one of the neuralgias.	false
+fec287e1110d4cd447d539309053475ffe353dee	Open label studies have suggested that @PHENOTYPICFEATURE$ necrosis factor (TNF) antagonists led to sustained improvement and corticosteroid sparing effect in patients with @DISEASE$ (GCA).	false
+743a45538c447a48fc12bc76f4f75b07f536ebd6	Like @PHENOTYPICFEATURE$ necrosis factor-? and interleukin-6, interleukin-1? is also highly expressed in inflamed arterial walls of patients with @DISEASE$ and may contribute in the pathogenesis of this disease.	false
+a7f4c00fcd999871b1941d86cd905ec8b765bd95	In all affected patients, hematuria without proteinuria was associated with muscular @PHENOTYPICFEATURE$ and @DISEASE$ responsible for retinal hemorrhages.	false
+037a6d9e004b0d177f96c38b4aa9115e7f7a37f4	@DISEASE$ (SCA6, MIM 183086) is an autosomal dominant @PHENOTYPICFEATURE$.	false
+abcfb29b8057dec93d2c678ca5067e479e76cad9	The aim of paper was to investigate the temporal processing in patients with @DISEASE$ (SCA6) and SCA31, pure cerebellar types of @PHENOTYPICFEATURE$, using a synchronized tapping task.	false
+22defebcb76e6e64fe89a32ad86ec5398d2a0aa9	In addition, the overlapping @PHENOTYPICFEATURE$ in FFDD3 and two other genetic disorders, @DISEASE$ and Barber-Say syndrome, are noted.	false
+7bad0e0c5b49f2b5ba2228583c5f5698f204ceb5	Newly recognized recessive syndrome characterized by dysmorphic features, @DISEASE$, severe @PHENOTYPICFEATURE$, and sensorineural hearing loss maps to 3p21.3.	false
+4805d5ef17640b767a582e39d32af94623ff1567	The condition is characterized by @DISEASE$, severe @PHENOTYPICFEATURE$, sensorineural deafness, moderate learning disability, and distinctive facial dysmorphic features.	false
+d7b4c6378c555e23cd23cc10421d5323a123cded	Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with @DISEASE$, alopecia, intellectual disability, and @PHENOTYPICFEATURE$ and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition.	false
+e4fafa65568411cb0ef7c3574c20e03087c3868e	A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, @PHENOTYPICFEATURE$, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, @DISEASE$ and some of the facial characteristics of the individuals with the PLWS.	false
+80911c3408cdf04f03aa3ebe0b9fa7bd4f9b8c54	Prader-Willi syndrome (PWS [MIM 176270]) is a neurogenetic disorder characterized by decreased fetal activity, muscular hypotonia, @PHENOTYPICFEATURE$, short stature, obesity, mental retardation, and @DISEASE$.	false
+71ad47254d3373d9f75679398a29b88c2b1fcf92	Congenital unilateral @DISEASE$ and severe neonatal @PHENOTYPICFEATURE$.	false
+11134222a8db05eb6c18c1d1b657cf049c2faa06	@DISEASE$ (LAD) is a rare immuno-deficiency disorder which results in chronic infections, such as gingivitis, necrotic @PHENOTYPICFEATURE$ and gastrointestinal ulcers.	false
+da06f4ef7c8631701b391d25e0e172d15574bed3	@DISEASE$: recurrent childhood @PHENOTYPICFEATURE$.	false
+2aa47900c33f9abeb63be317e9c83dbe9c68e085	Defects of leukocyte adhesion and chemotaxis as a result of mutations of beta2-integrins lead to abnormal leukocytosis and susceptibility to @PHENOTYPICFEATURE$, as observed in @DISEASE$.	false
+44e79293db1c29cb2c3ad7badd99b1f4bf492d9f	@PHENOTYPICFEATURE$ and rare dermatological diseases: an intriguing case of @DISEASE$.	false
+cb46fd70dade694974893ebed652d1bae45f84a1	p.(Leu37Glnfs*31)) in a patient with @DISEASE$, @PHENOTYPICFEATURE$, undermasculinized genitalia, developmental delay, and placental hypoplasia.	false
+d8a9ca66f9a114837e629de183441b6f57d49433	Peritumoral @PHENOTYPICFEATURE$ is a recognized complication following stereotactic radiosurgery (@DISEASE$).	false
+f8653741f64fb075b6c63b5c19beb5f5dc83616f	Recently, gain-of-function mutations within the PCNA domain have been described in two disorders characterized by growth failure, namely IMAGe (intra-uterine growth restriction, @PHENOTYPICFEATURE$, adrenal hypoplasia congenita and genital abnormalities) syndrome and @DISEASE$ (SRS).	false
+bed3a63ddab6a6abe7e2b25d570f5571586c5e0d	Recently, gain-of-function mutations within the PCNA domain have been described in two disorders characterized by growth failure, namely IMAGe (intra-uterine growth restriction, @PHENOTYPICFEATURE$, adrenal hypoplasia congenita and genital abnormalities) syndrome and Silver-Russell syndrome (@DISEASE$).	false
+8f11983178e57ee8509d1d6f63a299ebe4d5fe8a	Long-term follow up is required to detect and appropriately manage post-@DISEASE$ @PHENOTYPICFEATURE$.	false
+40fc96e71d954cbbe63bcc839d27c8ccfa31d0e2	De novo IGF2 mutation on the paternal allele in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3df8a6e8ef4f2437383d38a46271ea839057a6e5	We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of @DISEASE$.	false
+e7bd2005ffa9a0c998bfc3ce20c870ed3b3c3289	We describe a 7-month-old male child with @DISEASE$ (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of SRS.	false
+452f1cb671e1034b0ec9f92f62e1bc679d3cb85d	We describe a 7-month-old male child with Silver-Russel syndrome (@DISEASE$) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of SRS.	false
+2f3135dda7ce12c7de5cc546490b7d6db8335dcd	All 12 patients studied exhibited the classical @DISEASE$ phenotype with low birth weight, connatal @PHENOTYPICFEATURE$, typical facial features and short stature at presentation.	false
+843924d4493763798256a6aa1de893633c15887b	The timing of immunotherapy and @DISEASE$ may affect LRFD and postradiosurgical @PHENOTYPICFEATURE$.	false
+5eaf6ff5ebfa4bb7a5ed1f8427a4b095a7713384	Background Silver-Russell syndrome (@DISEASE$) is characterized by growth retardation and variable features including @PHENOTYPICFEATURE$, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.	false
+d9ff0cc1622a0f5d0e1fa9526061b075b1d60f6e	Background @DISEASE$ (SRS) is characterized by growth retardation and variable features including @PHENOTYPICFEATURE$, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.	false
+71d140eed12324d18a26054bb6f167bd9d7dfbc9	Peri-lesional @PHENOTYPICFEATURE$ is a serious and well-known complication of stereotactic radiosurgery (@DISEASE$).	false
+c2493ef3e1982c799b3faec4f19206a4086367af	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, @DISEASE$, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+34aaecc80de4ac114d3d2f5fd9c55817c47a43af	A case report of recessive @DISEASE$ and early onset @PHENOTYPICFEATURE$: Is it a causal or casual link?	false
+db3e64d35f37968aa654b08d2793b34e8895715a	We initially focus on the skeletal muscle channelopathies (the periodic paralyses, @PHENOTYPICFEATURE$, paramyotonia congenita and @DISEASE$).	false
+029954a1c15921dff9ecc7115c2f5f3d5d786e0b	In vitro muscle contracture investigations on the @PHENOTYPICFEATURE$ like episodes in @DISEASE$.	false
+a8fcba8aca8fae95ef31e3c42dcd7c29a453bf52	A sporadic event of @DISEASE$ in a infant admitted to the Paediatric Clinic for frequent crises of apnoea, cyanosis, @PHENOTYPICFEATURE$ and difficult feeding is reported.	false
+ccbf963c11907a7b23b168238e1308418a2f054a	Endocrine crises can occur in diabetes mellitus, in pituitary failure when there is a lack of ACTH, TSH or ADH secretion, in severe hyper- or hypothyroidism (thyroid storm and myxedema @PHENOTYPICFEATURE$), severe hyper- or hypoparathyroidism (parathyroid crisis and tetany), in adrenal failure and in patients with pheochromocytoma or @DISEASE$.	false
+a164be0b26144ee2b4d4781db5025f5f30018803	A woman with ectopic corticotropin-dependent Cushing's syndrome, diabetes mellitus, @DISEASE$, and a history of thyroid cancer had the precipitous onset of @PHENOTYPICFEATURE$ and fever, and hypotonic polyuria and progressive hypernatremia developed.	false
+69662243403637f775dccca1a3732ea7a8fb07f9	Moreover, NSE determination in cord blood offers an early postnatal possibility of confirming the diagnosis of neuroblastoma in newborns.NSE has been demonstrated to provide quantitative measures of brain damage and/or to improve the diagnosis and the outcome evaluation in ischaemic stroke, intracerebral hemorrhage, @PHENOTYPICFEATURE$, comatose patients after cardiopulmonary resuscitation for cardiac arrest and traumatic brain injury.Increased NSE serum levels have also been found associated with melanoma, seminoma, renal cell carcinoma, Merkel cell tumour, @DISEASE$ tumours, dysgerminomas and immature teratomas, malignant phaechromocytoma, Guillain-Barr? syndrome and Creutzfeldt-Jakob disease.	false
+3aef4fd5d1b4e06228b2f9ca62126d1f856f1651	We report two sisters having a rare congenital anomaly-@DISEASE$ having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous @PHENOTYPICFEATURE$, and pulmonary stenosis.	false
+e16f5595dfe7f7dabd9824f52576377ad4471eb3	Fine-needle aspiration cytology of an unusual primary @PHENOTYPICFEATURE$, @DISEASE$: case report.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+0f6145c23c993cd83a08e0d29637a80127d2f6ab	We present a patient with Maffucci syndrome who was diagnosed with an intracranial @DISEASE$ after presenting with hearing loss and @PHENOTYPICFEATURE$.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+a33b8168fa9e78d58795efb3d5acbafdf17a3406	In our families we observed a rare associated between @DISEASE$ (CAE) and juvenile @PHENOTYPICFEATURE$ epilepsy (JME).(ABSTRACT	false
+91d98177594c55ad1d1e3d5aeb472ca027f5abc2	These are principally: benign neonatal familial convulsions, benign neonatal convulsions, benign myoclonic epilepsy in infancy, @DISEASE$, juvenile absence epilepsy, juvenile @PHENOTYPICFEATURE$ epilepsy, epilepsy with generalised tonic-clonic seizures on awakening.	false
+5b7bc1645bbbf436b96a4aa3cb9c5b4721c2deca	These are principally: benign neonatal familial convulsions, benign neonatal convulsions, benign @PHENOTYPICFEATURE$ epilepsy in infancy, @DISEASE$, juvenile absence epilepsy, juvenile myoclonic epilepsy, epilepsy with generalised tonic-clonic seizures on awakening.	false
+7450222aa948c463529055c25bf887ad98427121	Ninety-four families were selected from IGE patients with either juvenile @PHENOTYPICFEATURE$ epilepsy (JME), juvenile (JAE) or @DISEASE$ (CAE).	false
+7bf3fd8ae16837970792aff0f30d95239141537f	The disorders included @DISEASE$ (CAE), juvenile @PHENOTYPICFEATURE$ epilepsy (JME) and temporal lobe epilepsy (TLE).	false
+132941bb59869bf3ef427d207940509383ab07a3	Gene mapping in the idiopathic generalized epilepsies: juvenile @PHENOTYPICFEATURE$ epilepsy, @DISEASE$, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy.	false
+61384b7b28348b443a081fda00e37fe2fb7cd611	Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, @DISEASE$, epilepsy with grand mal seizures, and early childhood @PHENOTYPICFEATURE$ epilepsy.	false
+0369f2a7b2b11d37bb78ae2eafb09db12c9c1765	Long-term prognosis of typical @DISEASE$: remission or progression to juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+280a280f7aec913fb53f134541798ec6f2242a21	Linkage analyses were conducted in 60 families ascertained through IGE patients with juvenile @PHENOTYPICFEATURE$ epilepsy, juvenile absence epilepsy or @DISEASE$.	false
+05025a91770a0809b18babf3e04884297b09a25b	Ideally, patients can be classified into specific epilepsy syndromes, such as @DISEASE$, juvenile @PHENOTYPICFEATURE$ epilepsy (JME), or generalized tonic-clonic seizures on awakening.	false
+ddc9cdf51e501a176daf24804477fecf05131e44	Children with @DISEASE$ (CAE) may develop generalized tonic-clonic seizure or juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+2c6c4c497645fdc882cfb29043d220bfb1f6a042	Linkage and association analyses were conducted in 63 families ascertained through IGE patients with juvenile @PHENOTYPICFEATURE$ epilepsy, juvenile absence epilepsy, or @DISEASE$.	false
+f8a139667e616c8ca703ffc58fb9f7d1378bff74	Microsurgery and stereotactic radiosurgery (@DISEASE$) for vestibular schwannomas are associated with a relatively high incidence of @PHENOTYPICFEATURE$.	false
+070c1f64ff47739bf6735d430f76abf91d2cd907	The disease is characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f6cffc9a8a3b9b98e6277c84efa900e52d27803c	Autosomal recessive @DISEASE$ (LQTS), or Jervell and Lange-Nielsen syndrome (JLNS), can be associated with @PHENOTYPICFEATURE$.	false
+a028c860a32e7325828f113b459ae4e62ea23d0d	Jervell and Lange-Nielsen syndrome (JLNS) is a recessively inherited @DISEASE$ (LQTS) characterised by profound @PHENOTYPICFEATURE$ and predisposition to syncope and sudden cardiac death.	false
+7e668b3774e2191bb9bd8ace1d37a97930c186fa	Jervell and Lange-Nielsen syndrome (JLNS) is a recessively inherited form of @DISEASE$ characterized by profound @PHENOTYPICFEATURE$ and prolongation of the QT interval.	false
+3947591daa8662545e921aa254379030205dbf2c	We report on the @DISEASE$ occurring in conjunction with nontoxic multinodular goiter and @PHENOTYPICFEATURE$ in several siblings of a large family.	false
+bdd3f1229552b2823843a0d7152130ff94d6adb8	CACNA1A was analyzed and nine mutations were detected in 15 of 16 probands of families affected by hemiplegic migraine and cerebellar signs, in 2 of 3 subjects with sporadic hemiplegic migraine and @PHENOTYPICFEATURE$, and in 4 of 12 probands of families affected by pure @DISEASE$.	false
+21c0a82b0b3081dc0f8fe2f16c6a09e5c16ed2b2	CACNA1A was analyzed and nine mutations were detected in 15 of 16 probands of families affected by hemiplegic migraine and @PHENOTYPICFEATURE$, in 2 of 3 subjects with sporadic hemiplegic migraine and cerebellar signs, and in 4 of 12 probands of families affected by pure @DISEASE$.	false
+71aa2d8b525c5531c61228e80c4c67b7d9d72b26	CACNA1A was analyzed and nine mutations were detected in 15 of 16 probands of families affected by @DISEASE$ and cerebellar signs, in 2 of 3 subjects with sporadic hemiplegic migraine and @PHENOTYPICFEATURE$, and in 4 of 12 probands of families affected by pure hemiplegic migraine.	false
+5b8a459dfeec5b6bd20d8c886a267373c6c43dac	CACNA1A was analyzed and nine mutations were detected in 15 of 16 probands of families affected by @DISEASE$ and @PHENOTYPICFEATURE$, in 2 of 3 subjects with sporadic hemiplegic migraine and cerebellar signs, and in 4 of 12 probands of families affected by pure hemiplegic migraine.	false
+0cfb025f234f14caaa5b5a77a210b60ebc8281b9	Six mutations were associated with @DISEASE$ and @PHENOTYPICFEATURE$, and 83 percent of the subjects with these six mutations had nystagmus, ataxia, or both.	false
+00c3157472195ff901b46c26a952411069388020	The others included intracranial hypotension accompanied by seizures, cerebral primitive neuroectodermal tumor, ophthalmoplegic migraine, @DISEASE$, spinal segmental @PHENOTYPICFEATURE$, acute motor axonal neuropathy and acute motor axonal neuropathy associated with ophthalmoplegia.	false
+9dc5ce4b2d722da5328c0847096bb4d3e9a1aced	Mutations in CACNA1A, which encodes a neuronal calcium channel, are present in 50 percent of families with @DISEASE$, including all those with @PHENOTYPICFEATURE$.	false
+ffa96456bdc74034a250ae5940cb4aa8b18698e4	Hypoglycaemia, hyperglycaemia, epilepsy, multiple sclerosis, @DISEASE$, intracranial @PHENOTYPICFEATURE$ or infection (meningitis/encephalitis/abscess) can all mimic stroke.	false
+2c08c95f2348fe43c55c7abb116ea6eab6d3fde5	Bilateral duplication of the hallux, polydactyly of hands, @PHENOTYPICFEATURE$ and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+c6277c6ddb049f3c28833b97d83be0d7fe73ec40	Hormone-producing @DISEASE$ with dominant @PHENOTYPICFEATURE$; venous pressure curve characteristic of hypervolemia.	false
+2fd8dc8fe401a8a12aec8f380941d1e9699bf170	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; @PHENOTYPICFEATURE$; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+4fcb78e3c559974ab088b97feb487ab9118bbf2d	Amyotrophic lateral sclerosis (@DISEASE$) is a rapidly @PHENOTYPICFEATURE$ disease affecting motor neurons.	false
+54c7d5ae4ade0952d0a84fbebb183d6ae2fd0c29	@DISEASE$ (ALS) is a rapidly @PHENOTYPICFEATURE$ disease affecting motor neurons.	false
+9f7fb800dacaea15ca8a5493a12cc1e111e6010e	MMN had a younger @PHENOTYPICFEATURE$ and was more common in males than @DISEASE$.	false
+9be7c39d88ba1caa62e33ef36479f0a30bae1cb7	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+14e006528f474345a4c8fadabe242ab0a32264fe	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+cdac5e9b0e535f27b1b0f83255d5c8a4b38703d0	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ motor neuron disorder.	false
+d4fb6ca48728fa81ac39372b86a512356c6f945b	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ motor neuron disorder.	false
+fabb08375de260b5a1ef353e1825deb402bd56cf	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder, and the majority of ALS are sporadic (SALS).	false
+e445dd05aae5bfc185f1ef2a883846dbc95c6b4f	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ disorder, and the majority of ALS are sporadic (SALS).	false
+09b23d17550b96efcee6ddd72cebf0dd20da7b81	Amyotrophic lateral sclerosis (ALS) is a @PHENOTYPICFEATURE$ disorder, and the majority of @DISEASE$ are sporadic (SALS).	false
+3c6f48f9e054ccde1fae361d31d96e0ec7daaf2c	The underlying cause of amyotrophic lateral sclerosis (@DISEASE$), a @PHENOTYPICFEATURE$ disorder, remains unknown.	false
+39f6a00b2d442edd93e6ca9301410357be4d608b	The underlying cause of @DISEASE$ (ALS), a @PHENOTYPICFEATURE$ disorder, remains unknown.	false
+da15d2dd3e15ab6401fff160a5b45796a8d133b1	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ motor neuron disease.	false
+cbd9cea9531cc297b697e779aba90a3c05b9e85f	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ motor neuron disease.	false
+9be7c39d88ba1caa62e33ef36479f0a30bae1cb7	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+14e006528f474345a4c8fadabe242ab0a32264fe	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+9be7c39d88ba1caa62e33ef36479f0a30bae1cb7	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+14e006528f474345a4c8fadabe242ab0a32264fe	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+9be7c39d88ba1caa62e33ef36479f0a30bae1cb7	@DISEASE$ (ALS) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+14e006528f474345a4c8fadabe242ab0a32264fe	Amyotrophic lateral sclerosis (@DISEASE$) is a @PHENOTYPICFEATURE$ disorder affecting motor neurons.	false
+d94d439d5bae3da87c4af95a64d8e976a9c50503	Clinical and @PHENOTYPICFEATURE$ heterogeneity of @DISEASE$ in Tunisian families.	false
+ae57fa6bb2470d78aae5f4b39bdfa179828f6834	Darier's disease or @DISEASE$ is an autosomal dominant acantholytic disorder that frequently arises as a result of spontaneous @PHENOTYPICFEATURE$.	false
+3dc472cb7de22ad95e8c3371ce422023eecaf269	@DISEASE$ or keratosis follicularis is an autosomal dominant acantholytic disorder that frequently arises as a result of spontaneous @PHENOTYPICFEATURE$.	false
+1efee254b72b9540d46312616c2ab4db6fccfb37	To date, in @PHENOTYPICFEATURE$, collagenase-3 expression has been reported only in @DISEASE$; the presence and possible implications of this enzyme in the progression of gastric cancer are unknown.	false
+5487a17f9c56a4ad7dda2169d12b9877450fad4f	As an example, we describe the first known case of an elderly patient with a long history of @PHENOTYPICFEATURE$ as a complication of an undiagnosed chronic hypoparathyroidism after surgery of a pT4-@DISEASE$.	false
+3e7fe824243e590faf850c8fae1627d52ce59b46	We identified a Japanese boy with @DISEASE$ who suffered from recurrent lower @PHENOTYPICFEATURE$ during infancy and choreoathetosis at a later age.	false
+58538a18bb4dd7fa206bb12c905fced5a03d83ea	A self-reporting surveillance system was put in place to receive any reports of @PHENOTYPICFEATURE$, urinary tract infection, or @DISEASE$ cases.	false
+f329c09fbd62f2e4606d31e205f139fd92dffdb0	In Machado-Joseph disease, poor posture, dystonia and @PHENOTYPICFEATURE$ are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with @DISEASE$.	false
+daf05c85cec77b5c7cb7fb6457c89caa81d4fb4b	These include @DISEASE$, cardiomyopathy, lipodystrophy, @PHENOTYPICFEATURE$ and premature aging syndromes such as progeria.	false
+fd66a1f35d7d1b46d90682ae2b99e0fbb70fee07	This system provides a platform for examining the role of this mechanosensory complex in the pathology of myotonic and @DISEASE$, @PHENOTYPICFEATURE$, and spasticity inducing diseases like Parkinson's.	false
+a3c172ee145611257f53029eab2a2319d80921d5	Some mutations of the lamin A/C gene may be responsible for a combination of distinct phenotypes, such as @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1bccbec0b9ac656bf175e4408d86284d10c341e6	Defects in A-type lamins cause cardiomyopathy, @DISEASE$, @PHENOTYPICFEATURE$, lipodystrophy, and progeroid disorders.	false
+1b11f7a752be4e966e90172bc6c35df68d276cb9	The importance of these structures is now unquestioned given the wide range of degenerative diseases that stem from LMNA gene mutations, including @DISEASE$ disorders, @PHENOTYPICFEATURE$, lipodystrophies, and premature aging syndromes.	false
+06c715388b50db80915443ec0ac85c20be00cd47	Dominant LMNA mutations can cause combined @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fff0b43876e8c395824d913b93631841d65351bf	@DISEASE$ associated with intermittent @PHENOTYPICFEATURE$.	false
+b064884e0e5ae663662c5fe663d757a2b4d69d6e	Because the molecular composition and structure of the extracellular matrix are dynamically remodeled during various physiological and pathological conditions, we propose that matrix-regulated autophagy is key for maintaining proper tissue homeostasis and disease prevention, such as cancer @PHENOTYPICFEATURE$ and @DISEASE$.	false
+84a60fc4cdbdf6b302972b3169c13256b6ae984a	@DISEASE$ and @PHENOTYPICFEATURE$ have been linked to mutations in genes encoding nuclear envelope proteins; however, the molecular mechanisms underlying these disorders remain unresolved.	false
+e000a305a7b0f56feeb7bd258230072ca0c3faf1	Patients with @DISEASE$ (CF) may suffer from @PHENOTYPICFEATURE$ and reduced health-related quality of life (HRQoL).	false
+09f15cedd65596ba1fec8cca6cff9b3fbf45c172	[Electrolyte concentrations in the sweat of children with pancreatic @DISEASE$, Addison's disease and hypophyseal @PHENOTYPICFEATURE$].	false
+9cb9d29e30ad1e3f64119a831d091e1386a915b9	@PHENOTYPICFEATURE$ is common in children with @DISEASE$ (CF) however there are limited studies investigating the causes for poor sleep quality.	false
+e4ad6cf77f7e511795a47a5f13824af1b99d3631	The relationship between @PHENOTYPICFEATURE$ and pulmonary function in stable pediatric @DISEASE$ patients.	false
+4368f17c129f239e4f9a0f0ffefa35c072153eb3	To evaluate whether impairment of middle ear mucociliary migration would influence @PHENOTYPICFEATURE$ formation, a retrospective chart review evaluating cholesteatoma occurrence in a sizable population of patients with either primary ciliary dyskinesia (PCD) or @DISEASE$ (CF) was performed.	false
+7efe68213ff9cb13d2f6b29e0b089b8f3b76868a	To evaluate whether impairment of middle ear mucociliary migration would influence cholesteatoma formation, a retrospective chart review evaluating @PHENOTYPICFEATURE$ occurrence in a sizable population of patients with either primary ciliary dyskinesia (PCD) or @DISEASE$ (CF) was performed.	false
+8c252d079b8a3b60588db115c3d6f54c687d8611	@PHENOTYPICFEATURE$ in @DISEASE$: a prevalence study.	false
+a10c54787049e15b211bd3c88d11ec21f9abac83	The following types of infections were treated: 19 bacteriologically documented and 8 possible septicemias (the latter only in newborns and neutropenic cancer patients); 2 severe upper respiratory tract infections in cancer patients; 8 soft tissue or @PHENOTYPICFEATURE$; 1 cholangitis; 1 pneumonia; 1 osteomyelitis; 1 mediastinitis; 35 infectious exacerbations of underlying pulmonary disease in @DISEASE$ patients; and 4 meningitides.	false
+8fad5a946ccfb06b65caf81622076d5abf276520	Rarely, it could cause rashes, fever, headache, @PHENOTYPICFEATURE$, low blood pressure, and elevated serum transaminase levels in a patient with @DISEASE$.	false
+ec1b5b065cad383de5a5416503384aba14b2d83f	Bacterial biofllms have been shown in chronic diseases such as @DISEASE$, @PHENOTYPICFEATURE$, and otitis media with effusion.	false
+aa6f4c877cdc4dd8835e1234078a6a865e2f794a	We selected temporal bones from 14 donors with a diagnosis of @PHENOTYPICFEATURE$, 15 with chronic otitis media without retraction pockets, 14 with chronic otitis media with retraction pockets, 14 with @DISEASE$ (CF), and 16 controls.	false
+ac71dff3a1dc03079758601782e1b1fccc16d7dd	@PHENOTYPICFEATURE$ and @DISEASE$: two interrelated congenital cranial dysinnervation disorders?	false
+bb33fae1e3d6fbff2312784ae20b3393e584a9b6	We hope that this report of coinheritance @DISEASE$ and @PHENOTYPICFEATURE$ will initiate further investigations to disclose other possible variations that may enhance our knowledge on gene mutations of this intriguing syndrome.	false
+bc7f0f490eeb5339baf83acbc8945cfe8f9b4aa7	To our knowledge the present study constitutes the largest field survey on phantom limb pain carried out in Europe and corroborates the high prevalence and intensity of PLP, unusual @DISEASE$ and amputation-related @PHENOTYPICFEATURE$.	false
+c1cdf0a385b1257187bdff0d9827771904920e3d	The patients exhibited the typical clinical features of @DISEASE$ with type 1 oculocutaneous @PHENOTYPICFEATURE$ (OCA1).	false
+f68418c32861e1a1a4ee5085b537c9bc755a765c	The objective was to present the first report, which describes the concurrence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3b569c88fa3257ae158ae746314f869e766e3fb3	Patients with @DISEASE$ may exhibit mental retardation, intracranial @PHENOTYPICFEATURE$, nail dystrophies and a tendency to various infectious disorders, in addition to skin and oral findings.	false
+1f1c6974ca91a0318316a000e87e6bea5856aa8b	A 40-year-old Latin American woman presented for evaluation with a 5-week history of redness, thickened skin, and itching of the knees, as well as persistent redness and @PHENOTYPICFEATURE$ of the palms and soles consistent with Papillon-Lef?vre syndrome (@DISEASE$).	false
+d7cbce8160e9402d797bfc3977d9afaa4ce5a964	@PHENOTYPICFEATURE$ or amyotropic @DISEASE$ can be associated with renal cell carcinoma.	false
+26a40867be64dec7616526dfe6988b41e32b6ba1	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive heterogeneous trait which is characterized by @PHENOTYPICFEATURE$ palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.	false
+e809ea7f6b8e281131f9f37fce0a9b713346ebc1	@DISEASE$ should be considered in patients with ocular @PHENOTYPICFEATURE$ and ataxia in infancy.	false
+f1eea999daf036b6e1c1e9facb3faeb4c99d2907	@DISEASE$ and @PHENOTYPICFEATURE$ in cattle.	false
+8df27bcb8a2bcb335206668da1729437c7a1276a	We report the case of a 30-year-old African-American male with @DISEASE$ and @PHENOTYPICFEATURE$, presenting with diffuse myalgias.	false
+95b43596fec36b109b0acc4db5d7d4dfb819cd49	We present a 54-year-old woman from Sri Lanka with @DISEASE$ who experienced recurrent ischemic strokes followed by an acute abdomen and global @PHENOTYPICFEATURE$.	false
+0e8b876d5df0716ca5777ca3dade1d17c795ffab	@DISEASE$, @PHENOTYPICFEATURE$ and thalidomide -food for thought.	false
+257c0c0d96e4c332faa61bdc1e7365f293568cf2	[Anesthetic management of a patient with @DISEASE$ complicated with severe @PHENOTYPICFEATURE$].	false
+d8d47128af3e7ab152a77dc409bdd5b5a7619b60	We report a 15-year-old girl with @DISEASE$, who developed @PHENOTYPICFEATURE$, delayed puberty, gradually increasing abdominal distention, brown skin pigmentation, hypogonadism, hepatosplenomegaly, lympadenomegaly, monoclonal gammopathy, and anemia.	false
+7b7113d623d8d9bf462b3f67d4020f94f17d24bf	We suspect that an elevated VEGF level and a high cardiac output state may play a role in the pathogenesis of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+8e4baf622647e4659ae4de94e88242aabb1d157f	These findings suggested that ischemic cardiomyopathy, probably due to inflammatory reactions of coronary arteries in @DISEASE$, was responsible for the @PHENOTYPICFEATURE$ symptoms and left ventricular dysfunction in this patient.	false
+8e4ec891b803109f0b2f8c6919edcc548e5d779f	She was diagnosed with @DISEASE$ with a localized plasmacytoma of bone 5?months after her initial symptoms of @PHENOTYPICFEATURE$.	false
+ccf6ce2a1bde4046e7b96489023fba185b3141b7	To our knowledge, this is the first report of cerebrospinal fluid shunting for the symptomatic management of @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+a929c899aca0e67640e4dd69a966b5c821166df4	A 55-year-old woman was diagnosed with @DISEASE$; however, we could not perform high-dose chemotherapy with autologous peripheral blood stem cell transplantation (auto-PBSCT) because of rapidly progressive @PHENOTYPICFEATURE$.	false
+2fee3bcbf32dc857975fc6a3d887c0e792bbac78	@DISEASE$, @PHENOTYPICFEATURE$ communis and abnormal pulmonary venous return: an unusual association.	false
+f9ec5760deae48363cf7e025759ef3dbca417eae	A case of atypical @DISEASE$ (Majewski) with severe cerebral malformations (infundibular @PHENOTYPICFEATURE$, Dandy-Walker cyst, aplasia of cerebellar vermis, etc.) is reported.	false
+6ad41a4a23bc60fdfe47eb0a0c160ddfc67f530b	@DISEASE$ commonly manifests as regression, failure to thrive, spasticity, seizures with or without @PHENOTYPICFEATURE$.	false
+dffed8a9b97cb5363d6fb76b70dab0f93a48e578	@DISEASE$ commonly manifests as regression, @PHENOTYPICFEATURE$, spasticity, seizures with or without microcephaly.	false
+2f78ace56748d431896f7f9efecb532d7ec73f82	@DISEASE$ presenting with cerebral oedema and @PHENOTYPICFEATURE$.	false
+c86e2a6a5c3be3d7124c269d40bd16024888d633	A 5 9/12-year-old Mexican female with @DISEASE$ presented at 4 years of age with severe growth retardation, @PHENOTYPICFEATURE$, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram.	false
+21e46030ea93ab1991664f1c3311f2036f2ff80a	[Clinical experiences of dental extraction in a patient with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+b72afe51e67fb8c86804ec3b92e5112953e34bbb	@DISEASE$ is a progressive disorder which also presents with various types of @PHENOTYPICFEATURE$, mainly myoclonic jerks, atonic attacks and tonic-clonic seizures.	false
+076dda72b3886ded681ce946ed0ff46e6500eedb	Induction of acute myoclonic @PHENOTYPICFEATURE$ in hamsters by @DISEASE$ virus.	false
+7aef78695cb221046f5ad3025b596c9b1123cf6e	Individuals with @DISEASE$ and CYSHCN have many risk factors requiring nutrition interventions, including growth alterations (eg, @PHENOTYPICFEATURE$, obesity, or growth retardation), metabolic disorders, poor feeding skills, drug-nutrient interactions, and sometimes partial or total dependence on enteral or parenteral nutrition.	false
+ee9a1d7cadd849e2a2a352997d89b8c8a5dd0e97	Iron deficiency anemia (@DISEASE$) is an often unrecognized and undertreated complication of @PHENOTYPICFEATURE$ (UC).	false
+fcf844c3927815aefae8b85b99977219e2d1f9b4	Near-optimal signal preprocessor for positive @PHENOTYPICFEATURE$ @DISEASE$.	false
+c36c05e32ed047929a10f51cbcdb19577ede2ff2	MRI ruled out cord anomalies, but revealed in both patients @DISEASE$ cervical @PHENOTYPICFEATURE$ that was most likely secondary to ischemia.	false
+b75e5ebafd9a924ba9d36b35e9ddb591dc107725	In the spectroscopic experiment on excised rat brains, T1 was linearly dependent on tissue water content and T2 was prolonged in edematous tissue to a greater extent than expected by an increase in water content, showing that T2 possesses a greater sensitivity for @PHENOTYPICFEATURE$ @DISEASE$ and localization.	false
+d7abe66182ace0ce72cfc60762d4298829e74c4e	Three cases of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+a47e61c6016d230aeabc96b075c1d53bd8e713ce	High-dose intravenous immunoglobulin transiently corrects the factor VIII coagulant and VWF levels, lasting for a few weeks in @DISEASE$ type II associated with @PHENOTYPICFEATURE$ or IgG benign monoclonal gammopathy.	false
+625e95b4e8cd3f4652aa55d1b5e8f658e2c662b4	Corneal coloboma, aphakia and retinal neovascularization with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+8a761714360127af9e19635c68437f248d0134b6	Bilateral @PHENOTYPICFEATURE$ with the presumed @DISEASE$ in a cat.	false
+e03061b94f086f5c7c5e81f126d19a17875f0c18	@DISEASE$ is a rare form of @PHENOTYPICFEATURE$, which can also be associated with additional systemic defects.	false
+00527e4ea5b27944903be396116aa7df3eb5b1cf	Taken together, the diagnosis of @DISEASE$ which is a subtype of @PHENOTYPICFEATURE$ was suggested in the left eye.	false
+35e019313625dca60aacccb76d988453cc490ac6	A new autosomal dominant @DISEASE$ phenotype expanding the @PHENOTYPICFEATURE$ spectrum.	false
+9343d1f3f4d521ad1e4a977f039da4bb9a4e5aac	@PHENOTYPICFEATURE$ (@DISEASE$) in two snow leopard (Panthera uncia) cubs.	false
+491b8372b70b17059cbe42f842394726dddb5aa4	Steroid-induced glaucoma and @PHENOTYPICFEATURE$, excluding @DISEASE$, had uniformly good outcomes.	false
+c957cf9776051a52987c93f2da40d96729a8a53d	@DISEASE$ is a form of @PHENOTYPICFEATURE$ characterized by central ocular opacity and corneo-lenticular adhesions.	false
+f3f50e0d26d0346c464346fdc4f065abd58aa150	Ophthalmic examination and ultrasound findings are consistent with a diagnosis of @DISEASE$, a form of @PHENOTYPICFEATURE$.	false
+ebbfc0b9146735b2f797c93f2c8eaecc3a9786d1	@DISEASE$, which is characterised by @PHENOTYPICFEATURE$ and central corneal opacification, is distinct from Rieger anomaly.	false
+5956707132dc5a7661426dec46198736ddb33eed	@DISEASE$ is a rare disease characterised by diffuse polyposis of the gastrointestinal tract, diarrhoea, @PHENOTYPICFEATURE$, abdominal pain, cutaneous hyperpigmentation, dystrophic changes of fingernails, and alopecia.	false
+483a9ea394df84a887ef3e8b51675b33e1b26555	The patients' clinical records showed that two NBs had a @DISEASE$: one with anti-SSA, whose mother had Sj?gren syndrome, and another with anti-SSA, anti-SSB, anti-Ro52, and anti-mitochondrial antibodies (M2 type), whose mother had no diagnosis at the child's birth (cutaneous @PHENOTYPICFEATURE$ and positive ANA with the same profile).	false
+6e624616de69d8202fe2bce3ecdc7eedf2ada9e8	NLE is characterized by cutaneous @PHENOTYPICFEATURE$, @DISEASE$ (CHB), hepatic dysfunction and hematological abnormalities.	false
+1aed816b803c7bb0091a2f2bd22e4fe59eb744ef	To measure heart rate (HR) and heart rate variability (HRV) at rest, during and after walking among children with @PHENOTYPICFEATURE$ (CP) as compared to age matched typically developed (@DISEASE$) controls.	false
+83e38ad5ee7040040a6bc39f22e8705452f9b7e5	To determine the relationship between isometric leg muscle strength and mobility capacity in children with @PHENOTYPICFEATURE$ (CP) compared to typically developing (@DISEASE$) peers.	false
+5a5cf93d2ac75c7de53e45067cd15ded0a86e64a	A review of the current literature on @DISEASE$ is given, with special emphasis on the differentiation of the main types of thanatophoric dysplasia from other @PHENOTYPICFEATURE$.	false
+76c28d98f1880474cd14e7a706425b6fecce1982	A review of the current literature on thanatophoric dysplasia is given, with special emphasis on the differentiation of the main types of @DISEASE$ from other @PHENOTYPICFEATURE$.	false
+b1e8082caca266ff2fa3bcdbeacb74eaa423480a	@DISEASE$ (TD), the most common @PHENOTYPICFEATURE$, is a de novo genetic disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.	false
+89206a696d32a7085a66578194166f1f021a64de	Thanatophoric dysplasia (@DISEASE$), the most common @PHENOTYPICFEATURE$, is a de novo genetic disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.	false
+b24dd5e0a25467eb767407c957faf8b59b4b4043	We examined cellular organization, cell proliferation, and constituents of the extracellular matrix such as N-sulfated heparan sulfate (HS) and laminin (LAM) in postmortem brain tissue from the LV-SVZ of young to elderly individuals with @PHENOTYPICFEATURE$ (n=4) and age-matched typically developing (@DISEASE$) individuals (n=4) using immunofluorescence techniques.	false
+bc71ba09289af71de6de1d362de8752a1d7d6d9c	The evaluation of surface electromyography (sEMG) is commonly performed in children with @PHENOTYPICFEATURE$ (CP) and reliable interpretation necessitates knowledge of the variability in age-matched, typically developing (@DISEASE$) children.	false
+e0bb110ca3afb68d52c1035b396b808749f4d267	We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with @PHENOTYPICFEATURE$ among 12 000 cases, and 3 fetuses with @DISEASE$.	false
+5425938c2bec26200fdbd93d870f3643db579e5c	The HDlive rendering mode clearly showed the anatomical features of @DISEASE$: external malformations and @PHENOTYPICFEATURE$, including extremely short limbs, flattened vertebral bodies, and short horizontal ribs, among others.	false
+8982fb720e92091abcdf1ab5392e13a390925fcf	We studied two Japanese patients with @DISEASE$ without @PHENOTYPICFEATURE$, in whom the ages at onset and disease durations were 45 and 20 years, and 14 and 8.5 years respectively.	false
+4e126547b882785791e7e1d65662bd5a90fe139a	Clinical and neurophysiologic features of @DISEASE$ without @PHENOTYPICFEATURE$ caused by SCARB2 mutations.	false
+343f1816a496cb31ad96c8a58c0bdb50b05f00b3	Spinal muscular atrophy and @DISEASE$ (SMAPME, OMIM#159950) is a rare autosomal recessive disorder characterized by the combination of progressive myoclonic epilepsy and @PHENOTYPICFEATURE$ due to lower motor neuron disease.	false
+296a0ee29cc64bd1e20d23b16ed8d99932edebfb	Spinal muscular atrophy and progressive myoclonic epilepsy (SMAPME, OMIM#159950) is a rare autosomal recessive disorder characterized by the combination of @DISEASE$ and @PHENOTYPICFEATURE$ due to lower motor neuron disease.	false
+ad15aca7d222378527facb0bf006830cfd0281da	SCARB2 mutations in progressive myoclonus epilepsy (@DISEASE$) without @PHENOTYPICFEATURE$.	false
+ecc3ec6c7f957c88fa106d93f92979548f0cf4a9	Action myoclonus - @PHENOTYPICFEATURE$ is a rare syndrome associated with a @DISEASE$ and renal impairment that may lead to end-stage renal failure.	false
+39c7dc1a1133e35a82065f7895ca8b3551aeee65	Mutations in the SCARB2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (@DISEASE$) with or without @PHENOTYPICFEATURE$, the former also being designated action myoclonus-renal failure syndrome.	false
+5eb8642c324dca6dab75360fac0e00c49bca61b9	Mutations in the SCARB2 gene cause a rare autosomal recessive disease, @DISEASE$ (PME) with or without @PHENOTYPICFEATURE$, the former also being designated action myoclonus-renal failure syndrome.	false
+877333ba678127b440b287f8a047c33dc21c93dc	Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of @DISEASE$ (PME) associated with @PHENOTYPICFEATURE$.	false
+d4d06e74d6fe68814de033e7c476f1ff244df730	Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (@DISEASE$) associated with @PHENOTYPICFEATURE$.	false
+9d344398cbd0262ccbe8a0a9f817641d4b521797	It has been recently suggested that patients with premature ejaculation (@DISEASE$) have an associated @PHENOTYPICFEATURE$.	false
+61d511f8968c3685ac98dc4f48ce951a9a285df5	If a 5-cm distal margin below the luminal level of the primary @PHENOTYPICFEATURE$ on the fresh specimen is the objective for advanced cancer of the upper rectum treated with @DISEASE$ surgery, a margin of at least 3.5 cm of mesorectum on the fixed specimen should be attained for the pathologist to accurately establish distal radicality.	false
+a2da18fc6e956500590fa81202c0437b1e5997f1	The main causes of @PHENOTYPICFEATURE$ were congenital and early onset degenerative eye disease (@DISEASE$%, optic atrophy 10%).	false
+e1b5dd32a961b4330940f7c87f3c94f2e4d5235f	Twenty-one Chinese children with @DISEASE$ and @PHENOTYPICFEATURE$ underwent genetic examination.	false
+c14513700c8dc942e4dc4ae905e4dc8fc62fdec0	Genetic diagnosis and cochlear implantation for patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+17dffe3764bd6d90adf3c5c955a63b2d736ab151	G130V de novo @PHENOTYPICFEATURE$ in case with @DISEASE$ without palmoplantar keratoderma.	false
+24c55bcb37032245fec179523287611f96899233	A novel missense mutation in the SLC26A4 gene causes @DISEASE$ and @PHENOTYPICFEATURE$.	false
+007cfa885f6a9103e4bdf41f200966fa00b5a963	A patient with @DISEASE$ and @PHENOTYPICFEATURE$, 203 deaf probands, and 310 controls with normal hearing.	false
+8396adf06018f12601449b8645493137654a976e	Three novel mutations were detected in Chinese patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2c770dd591a3502afa4151b889a8891d8d612e25	Sequencing the SLC26A4 gene in the patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3b48a8b631b75fe7e1cab8d7868a5ec32221ac3d	To review the genotype and cochlear implantation outcome of patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+11679153a3e2bc95ec7eff3bbd871a67315b6f41	A novel compound heterozygous mutation of SLC26A4 in two Chinese families with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e4c5b271efe4b94b0699dd6985c82562cc7ba0d6	Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+b5a4878557db40451e90835dda8df6977c5c0179	The patient presented with @DISEASE$, @PHENOTYPICFEATURE$, and cerebellar ataxia.	false
+911ec5a451e9c7382e83aa16fe8ca5173a9daa37	Clinically, it differs from other urea cycle defects by a progressive paraparesis of the lower limbs (spasticity and contractures) with @DISEASE$, @PHENOTYPICFEATURE$ and regression in early childhood.	false
+19f93ce7e0f83af99961115d000f2b5524f8165b	It is characterized by mental status changes (eg, confusion, agitation, lethargy, coma), autonomic instability (eg, hyperthermia, tachycardia, diaphoresis, nausea, vomiting, diarrhea, dilated pupils), and neuromuscular @PHENOTYPICFEATURE$ (eg, myoclonus, @DISEASE$, rigidity, trismus).	false
+69c5d1e86a8cd8a1adbc542e11119ea9489aca3d	His examination was significant for spastic gait, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+fe32f58eb5ae1cbde1462e71dd5f76cfb11758b0	By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed @PHENOTYPICFEATURE$, choreic movements and @DISEASE$.	false
+cc0a76ef7f0b1317bba53ae8d7890f1e47fc8c9e	The other @PHENOTYPICFEATURE$ was @DISEASE$ only.	false
+186c82f6a5b4b43c62839a78cf0ff5cbf4e6849b	In 39 infants without seizures, 32 had transient @PHENOTYPICFEATURE$ (i.e., irritability, @DISEASE$, proximal hypotonia) which resolved by discharge, and 2 had abnormal and 5 normal examinations.(ABSTRACT	false
+7a687bf723b51c08d9dcb28f16c665b037b33300	He also displayed severe @PHENOTYPICFEATURE$ (intellectual disability, ataxia, altered speech, and @DISEASE$), short stature, and microcephaly, which are features associated with DSC.	false
+4498982ab6423a5d861b2bd721ad08ea57c06782	Clinical manifestations of affected members included short stature, osteoporosis, severe dental caries, and various @PHENOTYPICFEATURE$, such as mental retardation, depression, dysarthria, @DISEASE$, and ataxic gait.	false
+2670db8f1c723d1d8c62018fb59251087e5c5682	It is characterized by @PHENOTYPICFEATURE$, dementia, ataxia, stereotypic hand movements, @DISEASE$, spasticity, and seizures.	false
+1a78d74bdb5c0d5b3a14599008b1541eec7b685f	Suppression of acute Ixodes scapularis-induced @DISEASE$ using @PHENOTYPICFEATURE$ necrosis factor-alpha, interleukin-2, and interferon-gamma.	false
+e3538df8b0ce611bd62d373389e9379278ed465a	Massive release of @PHENOTYPICFEATURE$ necrosis factor is responsible for the potentially fatal larisch-Herxheimer reaction that follows antibiotic treatment of relapsing fever due to @DISEASE$ recurrentis.	false
+11da82746178e90c70416b658ef93ff20225c9cf	Other possibilities of @DISEASE$, M?bius syndrome, @PHENOTYPICFEATURE$, bilateral temporal bone fracture, Guillain-Barr? syndrome, central nervous system lymphoma and HIV infection were ruled out.	false
+f738e27b5ce8766590ca043bc6e2924229d98b24	We report a patient with verified @DISEASE$ who developed a @PHENOTYPICFEATURE$ in the cerebellopontine angle.	false
+86c82a605b20ab75a903974d3b0e7f1cea6515a3	The patient's full clinical picture suggested the possibility of the development of @DISEASE$ and disguised the symptoms of a developing intracranial @PHENOTYPICFEATURE$.	false
+823ed9ee530f14a35bbd5d10fa014f85ec3c3182	Levels of endogenous interleukin-1, interleukin-6, and @PHENOTYPICFEATURE$ necrosis factor in congenic mice infected with @DISEASE$ garinii.	false
+c54b7c1933aa2764a1c740ec75a5d0955b2ed4be	Moderate associations with MCL risk have been reported for @DISEASE$, family history of hematopoietic malignancies, and genetic variation in the interleukin-10 and @PHENOTYPICFEATURE$ necrosis factor genes, but findings remain unconfirmed.	false
+d11c16f1a87a1ee7348709842f739b2af9642609	Cytokines in Lyme borreliosis: lack of early @PHENOTYPICFEATURE$ necrosis factor-alpha and transforming growth factor-beta1 responses are associated with chronic @DISEASE$.	false
+11d18e06f72b185480e77350fcfcb39349a69f3f	Moreover, infectious diseases, such as @DISEASE$, @PHENOTYPICFEATURE$ (oligodendroglioma and lymphoma), and even genetic or metabolic diseases should also be considered if the clinical course of the disease does not follow the typical pattern for ADEM or MS.	false
+d30da7fb05540019f6ac385143fada9ef11b92df	@DISEASE$ infection and API2-MALT1 fusion are not significant in this @PHENOTYPICFEATURE$.	false
+d15ec0d01c8447d47a2f15188eaaa797d5cb14a2	Attentiveness to other malformations in newborns with @PHENOTYPICFEATURE$ is important, as they often appear as part of syndromes such as Goldenhar syndrome, @DISEASE$ and branchio-oto-renal syndrome.	false
+62672c81028e4d4acd3edc46a0b558a2d9d271e6	Consequently, 50% of patients with @DISEASE$ have a congenital, generally pure conductive hearing loss resulting from a major or minor @PHENOTYPICFEATURE$.	false
+811b7aca92dfa0557369712ff29c647020f2f541	We report a fetus with severe @DISEASE$ (MFD), postaxial hand defects, @PHENOTYPICFEATURE$ and extensive vertebral segmentation defects.	false
+c8136e09d8c1ad3e7410bd5e5b41e6bee115f0f5	Patients affected by @DISEASE$ usually manifest @PHENOTYPICFEATURE$ and convulsions, whereas beta-ketothiolase-deficient patients present encephalopathic crises characterized by metabolic acidosis, vomiting and coma.	false
+07ccc7610ef29d0e459a2395435aba0a7c2034a5	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+a73f8bfa69664f3b7515c84cf00e9e2c15e8cd89	Relative @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+6be8f5547e03f3355907e84559f71c0e0aff395e	Neonatal diabetes should be considered in babies presenting with early @PHENOTYPICFEATURE$ particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype-genotype correlation in Wolcott-Rallison syndrome.Structural kidney abnormality, in our case MCDK, can be seen in @DISEASE$.	false
+62447f9f84a20f72c98bf62726d86a2838201759	Neonatal diabetes should be considered in babies presenting with early @PHENOTYPICFEATURE$ particularly if there is a family history.Genetic diagnosis in neonatal diabetes enables disease confirmation, genetic counseling and anticipation of potential complications during concomitant situations such as acute illness, trauma or major surgery.There is lack of phenotype-genotype correlation in @DISEASE$.Structural kidney abnormality, in our case MCDK, can be seen in WRS.	false
+2c85cfd6e8b8ed1d340e543659bf386134be4af2	Our two patients had characteristic features of @DISEASE$, including intrauterine growth retardation, aged appearance, near absence of subcutaneous fat, gluteal fat pads, also labial pad in the first infant, wrinkled thin skin, sparse scalp hair, prominent scalp veins and @PHENOTYPICFEATURE$.	false
+347d09dbe091e9178cdede1b39255e367d221619	We present a female infant with (1) abnormal facies: @PHENOTYPICFEATURE$, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) @DISEASE$; (4) severe global retardation.	false
+077a5e7ec0dcc028adc30416b9409bb8a13215fd	In this report we describe a 36 year old woman with short stature, @PHENOTYPICFEATURE$, several dysmorphisms, @DISEASE$ and premature ovarian failure.	false
+bf9a067164c36cd805159264d2babbe587c52781	The authors report eight preterm infants with hypothyroxinemia who developed clinical features similar to those described in @DISEASE$: prolonged jaundice, hypoactivity, lethargy, constipation, @PHENOTYPICFEATURE$, and hoarse cry.	false
+ebecfda94b401d7b79674b06e19a7187688eb6c0	In older rats with @DISEASE$ there is a further dilution of capillaries, the development of hypoxic state in them, mucinous @PHENOTYPICFEATURE$ of interstitial space, decrease of biosynthetic and transport processes activity.	false
+6285c974b4768f75ab9862307d2c2203d91e90b8	In the November 1987 issue of this journal, Young and Simpson presented a female infant with abnormal facies (@PHENOTYPICFEATURE$, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, and micrognathia), congenital heart abnormalities (large atrial and ventricular septal defects), @DISEASE$, and severe global retardation.	false
+52d5dd98e91cb8858f0766c2fa80583922e145a5	Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, @PHENOTYPICFEATURE$, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, @DISEASE$.	false
+f061b278f5b1a75870417f5ff6a8bf5d808d0326	- Our study shows that @DISEASE$ is associated with @PHENOTYPICFEATURE$, either absolutely or in relation to stature.	false
+c475f5360453940750925382c9888db48d0621fe	It is characterized by the association of @DISEASE$, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (@PHENOTYPICFEATURE$, facial, eye, and dental anomalies), and abnormalities of the extremities.	false
+76a243063b111713c7b0f7d9cb4e0414865434ed	Acute @PHENOTYPICFEATURE$ in a newborn with infracardiac type @DISEASE$ and surgical repair.	false
+9dd8de2309ec80800b0273d39f8b14175fe5ee4c	@DISEASE$ patients who undergo gastrectomy suffer from a post-gastrectomy syndrome that includes @PHENOTYPICFEATURE$, dumping syndrome, reflux esophagitis, alkaline gastritis, and finally malnutrition.	false
+b03e9484ff0f27150d0c19b0499e7dabd2e3a2cd	No correlation was found between @DISEASE$ or @PHENOTYPICFEATURE$ and DBCP.	false
+3d2eaafed9aa90a6ef98372e503024078dddcac5	We examined miR-200b and miR-200c expression in 36 paired normal and @PHENOTYPICFEATURE$ specimens, as well as @DISEASE$ cell lines, by quantitative real-time PCR.	false
+aa29b0fd37d268a31ab667eed197ba82b3980102	The observations over 15 cases of primary multiple @PHENOTYPICFEATURE$ (1.93% of cases of @DISEASE$) are presented in the article.	false
+5feb450d94f23e9cfb5ea03c9a74d9fbbe450446	Cimetidine in alleviation of @DISEASE$ @PHENOTYPICFEATURE$.	false
+001ba12cb3c65f12fcbf41037b02b5c9a6741184	In contrast to most other @PHENOTYPICFEATURE$ models, this one perfectly matches the development of the most common @DISEASE$ found in humans.	false
+63136272c67fd8e49c0c44f94ab22f7ce065ef88	The only known curative treatment of @DISEASE$ is complete surgical resection of the @PHENOTYPICFEATURE$ with surrounding lymph node-bearing areas.	false
+31ceb6634cba1082530076cea32a4da0163596be	@DISEASE$, whole @PHENOTYPICFEATURE$(LMU), 150?80 mm, Type 3, T4a(SE), N2, M0, stage III B was diagnosed, and surgery was performed.	false
+eef6178d32e9f43c8331797e3251327df74e99c0	MET in @DISEASE$ with liver metastasis: The relationship between MET amplification and Met overexpression in primary @PHENOTYPICFEATURE$ and liver metastasis.	false
+49c139507c98f51df727532c1d7488893b077b6d	Gastric adenocarcinomas represent 90% of malignant @PHENOTYPICFEATURE$, meanwhile the frequency of gastric lymphoma range between 1-5% of all @DISEASE$.	false
+0006b0085b49a6d65fc8511178f96309332df06d	39 patients with RRMS and 16 patients with PMS were evaluated for physical impairment (@DISEASE$ assessed by a neurologist), upper extremity function (9-hole peg test), @PHENOTYPICFEATURE$ (broad neuropsychological test battery), cognitive reserves (highest obtained degree of education and vocabulary), symptoms of psychological distress (Symptom Checklist-90-R), depression (Beck Depression Inventory) and fatigue (Fatigue Scale for Motor and Cognitive Functions).	false
+c06436e9735d952ba3e8c2f9e150ac93d26e74e8	@DISEASE$ is an autosomal recessive @PHENOTYPICFEATURE$ characterised by generalised bone overgrowth, predominantly in the skull and mandible.	false
+0ef9f13a4e19cb3c76e4a6cae034b2295a7b8289	This review will provide the clinician with a practical guide, based on current evidence, in which circumstances to test which bone markers for optimal diagnostic purposes, in order to improve patient care in different areas of bone diseases including Paget's disease, primary osteoporosis, tumor induced osteomalacia, hypophosphatemic rickets, @DISEASE$, chronic kidney disease, rheumatoid arthritis, @PHENOTYPICFEATURE$/multiple myeloma, type 2 diabetes mellitus and primary hyperparathyroidism.	false
+1a881a0c91a0c005be8d843e05f1477c238e81aa	Monoclonal IgM anti-myelin-associated glycoprotein (MAG) antibody-related @PHENOTYPICFEATURE$ (@DISEASE$) is predominantly a demyelinating sensory neuropathy with ataxia and distal paresthesia.	false
+0365981c4219abf9a26dec6aa7c7972fd62ea0b9	Patients after PBC who occurred developed herpes simplex (35.7%), facial numbness (76.2%), annoying dysesthesia (21.4%) more frequently compared with patients after redo @DISEASE$ who occurred developed herpes simplex (14.7%), facial numbness (8.8%), @PHENOTYPICFEATURE$ (5.9%) (p<0.05).	false
+cca563db2a32a473e555b37506f2dc35d79cfe94	Canine @DISEASE$ with dysgerminoma @PHENOTYPICFEATURE$: a case study and literature review.	false
+48229c08ddb7a0f7d7a3805d9028b5b5c5c1d5d0	@PHENOTYPICFEATURE$ scoliosis is a well recognized presentation of spinal @DISEASE$ and osteoblastoma and is considered to be secondary to pain-provoked muscle spasm on the side of the lesion.	false
+bfa25c7c6e8fafe056abb3ccee206f403eddc23c	We hereby report a rare case of @DISEASE$ originating from the neck of the mandibular condyle that grew to large enough proportions to result in @PHENOTYPICFEATURE$ in addition to pain, swelling and restricted mouth opening.	false
+0dc11857fa09696b6eeaf00dbf194ee5a150c96d	@DISEASE$: an unusual cause of articular @PHENOTYPICFEATURE$.	false
+323af97392ef99d53a0a4dc169071ce0aa1753e0	Among infants (1 to 3 years old), diagnosis will most likely be: transitory synovitis, septic arthritis, neurological disorders (mild brain palsy (BP) and muscular dystrophy), congenital hip dislocation (CHD), varus thigh, juvenile rheumatoid arthritis (JRA) and neoplasias (@DISEASE$, leukemia); in the scholar age group, between 4 and 10 years old, in addition to the diagnoses above, Legg-Calv?-Perthes disease, discoid meniscus, inferior limbs discrepancy and unspecific muscular @PHENOTYPICFEATURE$; in adolescents (11 to 15 years old): slipped capital femoral epiphysis, congenital hip dislocation, chondrolysis, overuse syndromes, dissecans osteochondritis, and tarsal coalition.	false
+16d358d9a9121a6e4a1249a43952901f51e62d89	@PHENOTYPICFEATURE$ scoliosis is a well-recognized presentation of spinal @DISEASE$, especially in adolescents, and is thought to be caused by pain-provoked muscle spasm on the side of the lesion.	false
+49c90ca2bd40e8b22f7f3e1e1fd1a66dfaeabc0d	@DISEASE$ is a common, benign, bone neoplasm that occurs typically in the long bones and presents with severe, intractable @PHENOTYPICFEATURE$.	false
+99b70598f2eb321db1a0f57731e274de7f024382	We previously determined the structure of the human KIF1Bbeta gene, which was found to be a homologue of the murine Kif1bbeta, and demonstrated that the human KIF1Bbeta is a causative gene of @DISEASE$ although we did not prove that it is a @PHENOTYPICFEATURE$ suppressor gene of neuroblastoma.	false
+45bc4f049b58db7859711ccf2a4df6411f89957c	A family with @DISEASE$, sensorineural hearing loss, @PHENOTYPICFEATURE$, and mental retardation is reported.	false
+a4c68ca3fd61e2e5eeaa47045974a1b4712527df	Intellectual disability, midface hypoplasia, @PHENOTYPICFEATURE$, and @DISEASE$ are associated with a deletion in Xq22.3.	false
+682dd064b614ad3fb628d136cd46a41d29ad215c	Extracellular vesicles (EVs) derived from amniotic fluid stem cells (AFSCs) mediate anti-apoptotic, pro-angiogenic, and immune-modulatory effects in multiple disease models, such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4bfcc955cbdee83db4fe9249e8531315dd48eccf	@PHENOTYPICFEATURE$ was significantly present in male population (p = 0.04), whereas fibromyalgia, cryoglobulinemic vasculitis, arthritis, and @DISEASE$ were significantly present in female population under study (p < 0.05).	false
+31fbb2d4b12c00d5ce4cebac002916ee6495eea8	Numerous studies indicate that initial precipitating injuries (IPI) such as @PHENOTYPICFEATURE$ during early childhood may play a pivotal role in the pathogenesis of temporal lobe epilepsy (TLE) and Ammon's horn sclerosis (@DISEASE$).	false
+06a91b05b2b4af36b39dd52ff84b4de73408208b	We present a 28-year-old woman with slowly evolving scaly @PHENOTYPICFEATURE$ cutaneous plaques and fluctuating lymphadenopathy, associated with @DISEASE$.	false
+3e4b5c6786b1794210fa3de840f22df783e6d13b	In addition, it has been used to treat idiopathic thrombocytopenic purpura, systemic lupus @PHENOTYPICFEATURE$, rheumatoid arthritis, and @DISEASE$.	false
+66be5aa87438e864670f3ccea5e0c97eaf926add	The events included palindromic rheumatoid arthritis, diffuse spongiotic dermatitis, bullous pemphigoid, recurrent hemorrhagic stroke, @PHENOTYPICFEATURE$, recurrent paronychia, intramedullary fibrosis, recurrent joint pains, pulmonary aspergillosis, dyspnea with exacerbation of atrial fibrillation, and resolution of @DISEASE$.	false
+0a466898f7262bf3294e5729f246f2f8074c92e0	The various clinical manifestations of SLE that were reported to be successfully treated by IVIg in case reports include @DISEASE$, acquired factor VIII inhibitors, acquired von Willebrand disease, pure red cell aplasia, thrombocytopenia, pancytopenia, myelofibrosis, pneumonitis, pleural effusion, pericarditis, myocarditis, cardiogenic shock, nephritis, end-stage renal disease, encephalitis, neuropsychiatric lupus, psychosis, @PHENOTYPICFEATURE$, polyradiculoneuropathy, and vasculitis.	false
+03d40c27496fc03551ceffba3d4b4f9d2dfd8ecf	We describe the clinical and pathological features of a 44-year-old woman who presented with an @DISEASE$, thrombocytosis, polyclonal gammopathy, axillary lymphadenopathy, hepatosplenomegaly, and several @PHENOTYPICFEATURE$ and violaceous nodules and plaques without scaling involving the trunk and extremities.	false
+eeee94c802d49eb103defbfad19d3f18cea0f4cd	Deletion 3q22.1-q23 with blepharophimosis, @PHENOTYPICFEATURE$ and epicanthus inversus and an @DISEASE$-like brachydactyly phenotype.	false
+e8287c28198fe8968d0a7d284ac37fec9ba9bc65	@DISEASE$ with early onset, profound impairment, and @PHENOTYPICFEATURE$.	false
+e8287c28198fe8968d0a7d284ac37fec9ba9bc65	@DISEASE$ with early onset, profound impairment, and @PHENOTYPICFEATURE$.	false
+f4a70217ef5d9af14c88510d0c095c40a89367f7	The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and @PHENOTYPICFEATURE$/apraxia to severe @DISEASE$, often within the epilepsy-aphasia spectrum.	false
+fc5bc367af4ecc03ac37e06bc17e418ed81cae17	The patients' phenotype includes @DISEASE$ with hypsarrhythmia, facial dysmorphism, severe intellectual disability, @PHENOTYPICFEATURE$, congenital cardiac disease and cortical visual impairment.	false
+ff6e7e92cc4c1a2ed92758266f77865782b3cf23	Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, @PHENOTYPICFEATURE$ and @DISEASE$ type II.	false
+1f6a76aec5823e3e282a295db46166f05501e3b0	We report the first Palestinian child manifesting with @DISEASE$ psychomotor delay, muscle hypotonia, sensori-neural @PHENOTYPICFEATURE$, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome.	false
+0bfff88e6f3dca69df84581477030cff6d335317	@DISEASE$, dystonia-@PHENOTYPICFEATURE$, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.	false
+2965a3bfae378641e78a256651fc0427fd5e8cad	A case is presented with early-onset polyarthritis involving both large and small joints, prolonged fever, skin rash, hepatosplenomegaly, persistent cerebro-spinal fluid pleocytosis, brain atrophy, macrocephaly with @PHENOTYPICFEATURE$, a persistently open fontanelle, lymphadenopathy, subcutaneous nodules, developmental delay, failure to thrive, persistent @DISEASE$, leukocytosis with shift to the left, early thrombocytopenia followed by thrombocytosis, high erythrocyte sedimentation rate, elevated immunoglobulin level, and vasculitis involving several organs.	false
+977d9c00da72e0aa985d4334b352794254be7c0b	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset @DISEASE$, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+ef304cc30d4c5b794b692b0fb8eba4b1a0e071e0	Visual deficits in a mouse model of @DISEASE$ are the result of @PHENOTYPICFEATURE$ and loss of dorsal lateral geniculate thalamic neurons.	false
+fd9ea783dc69f4273fe30936c2a7f6f40e37d18d	Seventy-eight outpatients at the university hospital, Tokyo, diagnosed with @DISEASE$, @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis, or multiple sclerosis were asked whether they had experienced pain in the preceding week.	false
+83d40bd1c005eb053c46dc7b017dca0d2bf0340e	Various bioenergetics and antioxidants have been tried or under different investigational phase against AD and other neurodegenerative disorders (@DISEASE$, Huntington's disease, and @PHENOTYPICFEATURE$) because of their complex and multiple site of action.	false
+e3397177d2323a0a35570962cef4bdbcb7ffe8a0	Loss-of function mutations in PTEN-induced putative kinase 1 (PINK1) is one of the most common causes of @PHENOTYPICFEATURE$ @DISEASE$ (PD).	false
+20b40e7db07702da86e0557d2a7de35b43305570	These findings indicate that in patients with @DISEASE$, multiple sclerosis, and @PHENOTYPICFEATURE$, the urological symptoms can appear even in the early stage of disease.	false
+60b62c0e3549f45dd75e533484bc137b04210aa4	Systolic blood pressure, mean R-R interval, and R-R interval variance were studied in patients with @DISEASE$, @PHENOTYPICFEATURE$, and Shy-Drager syndrome.	false
+f280347de74ca68bb2a68e21f9ff3022d33ca5ce	Neuroinflammation has been demonstrated to be linked with @DISEASE$ (PD), Alzheimer's disease, and @PHENOTYPICFEATURE$.	false
+35e77e10bcc6dcad35dbe05aad8fa5327a58347b	These include Alzheimer's disease, @DISEASE$, @PHENOTYPICFEATURE$, depression, and many other neurological disorders including neurodevelopmental disorders.	false
+c3248531712538ca1d50efa622656323e3142aea	@DISEASE$ is a neurodegenerative disease characterized by tremors, muscle stiffness, and @PHENOTYPICFEATURE$.	false
+93f168930330de6cdd2f09e6b4f2f558de6d1408	Recently, resveratrol has been shown to exhibit neuroprotective effects in models of @DISEASE$, @PHENOTYPICFEATURE$ and Alzheimer's disease.	false
+42df0ff6ad2c6b3a9d73a7268f7f6c2cc2f262a5	[Clinical findings of neurogenic bladder in patients with @DISEASE$, multiple sclerosis and @PHENOTYPICFEATURE$].	false
+817724db150d9351a2c284825e0f95a321f2d191	Documentation of syndactyly and @DISEASE$ for possible concomitant @PHENOTYPICFEATURE$.	false
+e330a609281865247fb546498b2c7f81fe352ff2	We report on a Brazilian woman with @DISEASE$, cleft lip/palate, @PHENOTYPICFEATURE$, abnormally modeled femora, and bilateral tibial agenesis.	false
+3ee8c341fd32697c3a9d150103413cae0715622d	Duodenal and @PHENOTYPICFEATURE$ associated with facial, thyroid and auditory apparatus abnormalities: a new @DISEASE$ syndrome?	false
+60c10d86002e346b189aae00444665a93b974ed4	We detected MAN2A1-FER messenger RNA?and fusion protein (114 kD) in the hepatocellular carcinoma cell line HUH7, as well as in liver tumors, @DISEASE$, glioblastoma multiforme, prostate tumors, non-small cell @PHENOTYPICFEATURE$, and ovarian tumors, but not nontumor prostate or liver tissues.	false
+12e02860a8adaec52fbcbaee787a077c26b650f7	We reported a clinical case of a woman with @DISEASE$ that a few months after surgical operation, presented episodes of @PHENOTYPICFEATURE$, nausea, hypertension, mental change, unconsiousness; A contrast-enhanced CT of the brain revealed an "area of enhancement in the caudate nucleus" and cerebrospinal fluid cytologic studies evidenced the presence of carcinomatous cells.	false
+4ec0cab4a87fc72a345313be9a7069cde672c6b7	GDER in isolation induced marked esophagitis in 61.1% of rats, Barrett's esophagus in 16.7% and @DISEASE$ in 16.7%; when associated with DEN, 23.5% of rats presented marked esophagitis, papillomatosis @PHENOTYPICFEATURE$, whereas 76.5% had esophageal carcinoma, with 70.6% epidermoid carcinoma and 5.9% adenocarcinoma.	false
+26dcf0e6b9ad45f18d5eb106bfadefc4f161f336	In the human clinical samples, Streptococcus @PHENOTYPICFEATURE$ was detected in high abundance in gastroesophageal reflux disease and Barrett's esophagus (50-70%) in comparison to tumor adjacent normal epithelium, dysplasia, and @DISEASE$ (20-30%).	false
+5abf34a90c3be45c848778e1e94f2a9de4e2366c	Alongside noncontrast computed tomography images, multiphase contrast-enhanced computed tomography (CECT) supports rapid, accurate differentiation of @PHENOTYPICFEATURE$ from @DISEASE$ kidney cancers and can help with lesion characterization, staging, and surgical planning.	false
+53bb858e4fda34a20d938941c76e3b110443e0d4	Total intravenous anaesthesia was used because of the combination of @DISEASE$ @PHENOTYPICFEATURE$, severe kyphoscoliosis and extensive spinal scarring.	false
+893466ccaf9d3d2852daa4d645eb21029c855e05	These results suggest that DNA content or enhanced ras p21 expression may be different biological markers indicating the malignant @DISEASE$ of @PHENOTYPICFEATURE$.	false
+03884349b3a27458bf3d457c8669a24e7dc3d963	These results suggested the possibility that the overproduction and overexpression of one or more of the beta 1 integrin may be involved in the pathogenesis of human @PHENOTYPICFEATURE$ by modulating the invasive and/or metastatic @DISEASE$ of the tumor.	false
+81600c7a41138ecb45cbbd0c336d41183f3267f5	The results presented here raise the possibility that the overproduction of VLA-2 may be involved in the pathogenesis of human @PHENOTYPICFEATURE$ by modulating the invasive and metastatic @DISEASE$ of the tumor.	false
+9cdb4e6dbd250e35bf6e6c4378ecf6868f8ba9c5	In contrast to the previous cases, malabsorption, @PHENOTYPICFEATURE$, developmental delay, @DISEASE$ or severe recurrent infections were not observed.	false
+674a899182b3ca3e9eeb801e8eb34a7e318ee50b	Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (@DISEASE$, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other @PHENOTYPICFEATURE$).	false
+19372dc112986d45515307665251b3e1f6dee300	It is characterized by prenatal short stature, onychodysplasia, facial dysmorphism, @DISEASE$, and variable @PHENOTYPICFEATURE$ including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+99c663e6b814142ae8d0064370b8866df8a2e161	@PHENOTYPICFEATURE$ dysplasia (@DISEASE$) is a congenital short-limb skeletal dysplasia characterized by prenatal bowing of the lower limbs in association with additional anomalies of the tracheobronchial tree or genitourinary tract.	false
+b8cdf4c844b00c7e626fa5220c53ddcbac34cdef	The clinical features, in particular proximal contractures, distal hyperextensibility, mild dysmorphism and @PHENOTYPICFEATURE$, allow recognition of this subtype of @DISEASE$, which has no specific pathological characteristics.	false
+025dced8cbcb6707381e79caa57f2837623e9791	@DISEASE$ associated with calf hypertrophy, @PHENOTYPICFEATURE$ and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.	false
+5c2224506f06a753ca42c992498d4f5735fe7ba3	Congenital muscular dystrophy associated with calf hypertrophy, @PHENOTYPICFEATURE$ and severe mental retardation in three Italian families: evidence for a novel @DISEASE$ syndrome.	false
+552e8ad1298b1304361ac6f0bccbba4cba2b400b	We describe an infant with the phenotype of a @DISEASE$, with borderline @PHENOTYPICFEATURE$, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase.	false
+1b16c2526cb253a637f0542c7472ae75fe185718	[Four cases of Fukuyama type @DISEASE$ with @PHENOTYPICFEATURE$].	false
+3fe111cf3fd3d83b9e8ac44ee134acab5ed421ff	Low symptomatic malignant @PHENOTYPICFEATURE$ in a patient with lamin-related @DISEASE$.	false
+1a3093fd05b4c43427cc73f6f8b65e19d4e0fe8a	We recently described a novel congenital muscular dystrophy (@DISEASE$) syndrome characterized by mental retardation, @PHENOTYPICFEATURE$, and partial merosin deficiency on muscle biopsy.	false
+e9084b6311a011298e3ec8b4c5d13827d956608c	We recently described a novel @DISEASE$ (CMD) syndrome characterized by mental retardation, @PHENOTYPICFEATURE$, and partial merosin deficiency on muscle biopsy.	false
+0b1f22b04d1c64e5120d45a7c3925fb603b21db3	The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to @DISEASE$, @PHENOTYPICFEATURE$, and mental retardation.	false
+df396c918d0deb6819e44e7f853ae9fd0e5d0cbd	Congenital myotonic dystrophy (@DISEASE$) is characterized by @PHENOTYPICFEATURE$ myopathica, feeding and respiratory problems, skeletal deformities and polyhydramniosis.	false
+0c565b825de8f16b28b0dedcea546b6824e3a9ad	Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (@DISEASE$) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with @PHENOTYPICFEATURE$ and mental retardation, to mild LGMD.	false
+3fbdb63643f93d229dc31198a20e13838fdd8d83	Clinical phenotype in POMT1-mutated patients ranges from @DISEASE$ (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with @PHENOTYPICFEATURE$ and mental retardation, to mild LGMD.	false
+ddd41672a07321ee71103a87cc6b1e33b747ef8c	Thus, the @DISEASE$ gastric stromal @PHENOTYPICFEATURE$ is different clinically, pathologically, and behaviorally from sporadic gastric GIST.	false
+bf969c06e5bd1f438357a52a1027976cf0119351	Neurofibromatosis 1 and @DISEASE$-associated @PHENOTYPICFEATURE$ were excluded.	false
+8ff870cc5dbcaf919884c98a9f63366171b2b724	@DISEASE$ (HM) is a rare migraine with aura; it can be familiar or @PHENOTYPICFEATURE$.	false
+2fd44589b90fdc5b3461be2077e94702735961c1	Congenital @PHENOTYPICFEATURE$, @DISEASE$ due to a novel mutation of CACNA1A: a case report.	false
+2d754d2ef3ae0263f630135b4b59a1aee7b6566d	FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes @DISEASE$, cerebellar ataxia, @PHENOTYPICFEATURE$, and mild head trauma-induced brain edema.	false
+37158717fc1a0e2d34076872089a86dea92a21be	FHM1 mutation R192Q is associated with pure @DISEASE$, whereas the S218L mutation causes hemiplegic migraine, cerebellar ataxia, @PHENOTYPICFEATURE$, and mild head trauma-induced brain edema.	false
+0e56a89266f9d641cb15e618e2cfb05436bca0b0	FHM1 mutation R192Q is associated with pure @DISEASE$, whereas the S218L mutation causes hemiplegic migraine, @PHENOTYPICFEATURE$, seizures, and mild head trauma-induced brain edema.	false
+26f641b72e2fecf28e0bd0eef6bb8d525b833926	FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes @DISEASE$, @PHENOTYPICFEATURE$, seizures, and mild head trauma-induced brain edema.	false
+a77cd9c2fe6dcb5df493fc562d10498c4fc4e0c4	Both her mother and sister suffered from attacks of @DISEASE$, mild mental retardation, and @PHENOTYPICFEATURE$.	false
+2b4bd82e3c4ebfc341d0310247435b34e9bc9666	@DISEASE$ and late-onset photosensitive @PHENOTYPICFEATURE$.	false
+a0d15ba14528177e1139f35eb193d3725d2917f4	The phenotype was particularly severe and included @DISEASE$, @PHENOTYPICFEATURE$, prolonged coma, elevated temperature, sensory deficit, and transient or permanent cerebellar signs, such as ataxia, nystagmus, and dysarthria.	false
+113274c86587f09f295f2dd868e00b6f2fadd40a	The phenotype was particularly severe and included @DISEASE$, seizure, prolonged coma, elevated temperature, sensory deficit, and transient or permanent cerebellar signs, such as @PHENOTYPICFEATURE$, nystagmus, and dysarthria.	false
+3b5a31f8c99a27dcd55d449ed1e91d045740f97c	CACNA1A gene disorders present a variable familial phenotype of @PHENOTYPICFEATURE$, migraine with aura, and/or @DISEASE$.	false
+3df738631807dcf60adc4b4efff52a6b9d9686e2	Divergent effects of the T1174S SCN1A mutation associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0c753b85f1dfb4d5dc6f7ab0b3813ea0699bba43	A single mutation (T666M) was found in CACNA1A in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9c0806a4abd90f5a369d7c3478495d4cfc86c644	The concurrence of @PHENOTYPICFEATURE$ and @DISEASE$ adds to the peculiarity of this case.	false
+0d059f42c34cc912aa03a32fc237923802821aae	A sleep questionnaire was administered to 154 parents of 10- to 39-month-old children: 36 with visual impairment without associated @PHENOTYPICFEATURE$; 68 with visual impairment and associated disabilities (@DISEASE$); and 50 healthy controls.	false
+b2ec38f7571d49c459d8a49d286f2e7b0fd1dec7	Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, @PHENOTYPICFEATURE$, seizures, sensorineural hearing loss, @DISEASE$, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5).	false
+88f87dd4ae2cd40780a38a55370b16025a145644	Microcephaly, @DISEASE$, optic neuropathy, peripheral neuropathy, @PHENOTYPICFEATURE$, epilepsy, and movement disorders were also observed.	false
+79ec5d1f2cff0803cfb99327eb6fa31acd6348cf	Transoral vs. endoscopic endonasal approach for clival/@DISEASE$ cervical @PHENOTYPICFEATURE$.	false
+c0e1af6c491063bcb9112fc7105f19756ca60677	He presented with left midfacial diffuse hyperkeratotic erythematous lesion, ipsilateral @PHENOTYPICFEATURE$ of @DISEASE$ lip with indistinct vermilion border, left-sided facial swelling, unilateral maxillary enlargement and ipsilateral failure of eruption of permanent teeth.	false
+80c9eaebbdd7d6c2f39fb42ddb520737564cc2bf	He presented with left midfacial diffuse hyperkeratotic @PHENOTYPICFEATURE$ lesion, ipsilateral hypopigmentation of @DISEASE$ lip with indistinct vermilion border, left-sided facial swelling, unilateral maxillary enlargement and ipsilateral failure of eruption of permanent teeth.	false
+f1f727e81108a56895c9fe80440a191f65f62c39	The patient has suffered from episodes of urinary, @DISEASE$ airway, and @PHENOTYPICFEATURE$.	false
+25964e23aca8999d83e4de5052c81935702f87a9	The patient presented with bilateral @PHENOTYPICFEATURE$ of @DISEASE$ and lower limbs since birth.	false
+cffdac4d0061242dd72b7bd5080b495decc36be2	Children with @DISEASE$ brachial plexus lesions had significantly less forearm and total @PHENOTYPICFEATURE$ compared with those with global lesions.	false
+11db91a66e304bd5e82079f46123cc3c9deafcfc	The lesions were hypopigmented, @PHENOTYPICFEATURE$, flat papules present over the face, neck, trunk and @DISEASE$ extremities.	false
+765f85002fcc42a795ed86f16cd2568aab27b130	The lesions were @PHENOTYPICFEATURE$, erythematous, flat papules present over the face, neck, trunk and @DISEASE$ extremities.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+1feade2578d3c170c9164cc674a098c8cdb10d74	We present premature female twin fetuses with concordant extremely shortened ribs, @PHENOTYPICFEATURE$, macrocephaly, median cleft @DISEASE$ lip and facial dysmorphism.	false
+79ec5d1f2cff0803cfb99327eb6fa31acd6348cf	Transoral vs. endoscopic endonasal approach for clival/@DISEASE$ cervical @PHENOTYPICFEATURE$.	false
+85d199aec44854357ed1b1b89f1fe351d9e16696	The short rib (polydactyly) syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by @PHENOTYPICFEATURE$, median cleft @DISEASE$ lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly.	false
+b9042c1f32f6a6577dddfa12eb64dfec3d4a3aae	@DISEASE$ @PHENOTYPICFEATURE$ disease management in 3 tertiary care centers: key clinical components and venues of care.	false
+628a9821c2462ab1833504a89c119fba7abab3cb	In conclusion, @PHENOTYPICFEATURE$ was documented in 60% of the patients and must be included among the clinical features of @DISEASE$22q11 syndrome.	false
+d4cb6afcdcac399dd56bbbe92fc6898b5c578604	The aim of this study was to evaluate the prevalence of @PHENOTYPICFEATURE$ in @DISEASE$22q11 syndrome.	false
+196e2ba2d091902404ba38209f8e6b99f401560a	@DISEASE$ usually manifests in the neonatal period with poor feeding, @PHENOTYPICFEATURE$, lethargy, muscular hypertonicity, seizure, coma and death.	false
+5267d896060fadca9e298e852a0b667777c9f154	Subclinical @PHENOTYPICFEATURE$ in @DISEASE$.	false
+930325a34ec060bee074cefef6949ed581f049ca	Cerebrospinal fluid biogenic amines depletion and @PHENOTYPICFEATURE$ in adult patients with @DISEASE$.	false
+2fe3f4e3d7c6a72f708f1fbd70a75206217f7ed2	After adjusting for baseline characteristics, the adjusted prevalence ratios (PR) of 15 conditions studied (asthma, alopecia, urticaria, gallbladder disease, rhinitis, esophageal disorders, @PHENOTYPICFEATURE$, overweight, GERD, eczema, renal insufficiency, osteoporosis, gastritis/esophagitis and kidney calculus) were all above PR?=?1.24 and significantly higher for the @DISEASE$ cohort (p???.001).	false
+69d17f81ae4bdad380b3b4f8d7d1eed68ad9d066	There were positive findings in 56 cases: phenylketonuria (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), @DISEASE$ A (1), hyperglycinemia with hyperglycinuria (1), renal @PHENOTYPICFEATURE$ (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type.	false
+2146ad86e3f7ad18a327474bf3349785aad05864	The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar @PHENOTYPICFEATURE$ (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and @DISEASE$ (ChAc) among 29 Brazilian patients with a HD-like phenotype.	false
+1079edc2914b5ea1074c11043a731906ecb77892	We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/@PHENOTYPICFEATURE$ disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the @DISEASE$ locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2;	false
+91f2a3ba917d76ccba4f23f7a0ce6c70d3e082b9	Mutations in hVPS13 genes are linked to rare neurodegenerative disorders: @DISEASE$ (hVPS13A), Cohen syndrome (hVPS13B), predispose to early onset into Parkinson disease (hVPS13C) and lead to @PHENOTYPICFEATURE$/spastic paraplegia (hVPS13D).	false
+c7727dc79eb7282c989179caec885fb67d9dfafe	Five probands with @PHENOTYPICFEATURE$-telangectasia and 1 proband with @DISEASE$ were analyzed by targeted gene sequencing.	false
+113c1e20b311004a080b90bfaa415560edf8ecc6	@DISEASE$ (RTD) is a developmental @PHENOTYPICFEATURE$ characterized by fetal anuria, oligohydramnios, and severe postnatal hypotension.	false
+c3518f98e7869c9b9e4ee60041fdc9e19c7c0984	Acute @DISEASE$ lesion: conversion of restricted diffusion due to vasogenic @PHENOTYPICFEATURE$.	false
+8a76d4887e66a210397d2ea1323aa41a986e8af5	Here, it was discuss about applications of ADSC to colitis, liver failure, diabetes mellitus, @DISEASE$, orthopaedic disorders, @PHENOTYPICFEATURE$, fertility problems, and salivary gland damage.	false
+dc47efa9c292c11e8a6ba8c51cfcc0158b3a957d	An inverse relationship has been found between gliomas/acute lymphoblastic leukaemia and allergic disease/eczema, but there appears to be no association between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d6b9a6d69b20d1003571a1b7cff82c0a06c0872e	It can be associated with other conditions including @DISEASE$ (MS), movement disorders, epilepsy and @PHENOTYPICFEATURE$.	false
+0825d968bd549cfe56df764353af5ec166adf4a1	Other @PHENOTYPICFEATURE$ movements, however, are more serious and can be associated with neurologic disorders such as @DISEASE$, brainstem tumor, peripheral neuropathy, and Guillain-Barr? syndrome.	false
+4c42e058747dbc09906c02d4a1e8d0706e4af92c	Volume correction for @PHENOTYPICFEATURE$ in single-volume proton MR spectroscopy of contrast-enhancing @DISEASE$ lesions.	false
+33e82780fb0117b15c2bbe40183ffdc4fd18e28b	The prevalence and incidence of renal failure and renal replacement therapy in the general population was ascertained, as was the prevalence of @DISEASE$, paraplegia and @PHENOTYPICFEATURE$.	false
+08e4e5485d3e766f2d4d0b09fc3d65c6e4ec9917	Potassium channel dysfunction underlies diseases such as epilepsy, hypertension, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+98dd5fc07932de567f37bc1b32b482ea132ce7af	Dalfampridine, approved for @DISEASE$, normalized the ECG and reduced @PHENOTYPICFEATURE$ burden in the proband by >90-fold.	false
+a8f983072da30a3a51b96ece8cb861ce6a2de142	The occurrence of @PHENOTYPICFEATURE$ in @DISEASE$ (MS) has been considered unusual and classically has been ascribed to disease involving the motor unit.	false
+e54fe01c45579522473d5535b551cd5f752a45d8	Review of the literature in MEDLINE using the search terms of congenital myotonia or Becker's disease and @PHENOTYPICFEATURE$ or heart disease only found 2 articles on @DISEASE$ but none on Becker's disease.	false
+740311327b7bd516c28ac0c25c3cb1d13af19a1a	There was nothing like it in cases of limb-girdle dystrophy and @PHENOTYPICFEATURE$ investigated for the purpose of comparisons, whereas in some cases of myotonic dystrophy and @DISEASE$ the activity of the ATPase was indeed depressed, but the response to ouabain invariably remained normal.	false
+1a769d78d675eb0b9d9cea6f1580c3c1b4a12878	To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with @PHENOTYPICFEATURE$, in others with @DISEASE$, in others with infantile glycogenosis type II, in others with Prader-Willi syndrome, and in 4 age-matched controls.	false
+71040490b86bc6916eb701e504ca2f10c459e4ae	To assess dystrophic and/or non-dystrophic alterations such as fatty or connective tissue replacement and muscle @PHENOTYPICFEATURE$ in patients with severe recessive @DISEASE$.	false
+69d17f81ae4bdad380b3b4f8d7d1eed68ad9d066	There were positive findings in 56 cases: phenylketonuria (n = 8), alcaptonuria (1), pentosuria (5), galactosuria (2), tryptophanuria (1), xanthurenic aciduria (3), @DISEASE$ A (1), hyperglycinemia with hyperglycinuria (1), renal @PHENOTYPICFEATURE$ (9, lactic aciduria (3), 4-hydroxyphenylaceticaciduria (2), organic aciduria (12) and mellituria (8) of unknown type.	false
+7c012a5e91f90b258272a69196e6dc652b936603	Patients in Group 1 have @DISEASE$, bilateral disease, associated @PHENOTYPICFEATURE$, and/or second cancers.	false
+116d6aa0385381d54498fc70e887f0ee1a58aa2c	Moreover, we were unable to demonstrate constitutional deletions in a candidate sequence for the Wilms tumor gene or any other marker in 2 patients with aniridia and @PHENOTYPICFEATURE$, 4 patients with Wilms tumor and urogenital abnormalities, 5 patients with bilateral Wilms tumors, and 3 @DISEASE$ cases.	false
+4a60cabc6f4dfef3965f403083e66cc99ad05bbc	B3GALNT2 mutations associated with non-syndromic autosomal recessive @PHENOTYPICFEATURE$ reveal a lack of genotype-phenotype associations in the @DISEASE$.	false
+3c6d6d475eea690456a1d853c875da6245e3f08f	@DISEASE$ @PHENOTYPICFEATURE$ with massive dural and cerebral venous thrombosis and tissue arthroconidia.	false
+4a5ce40cbf39b3c92f6831d2f7837d39fe6788b4	Association between facial cutaneous @DISEASE$ and @PHENOTYPICFEATURE$.	false
+928192e90263401714b69e4b0d50c2dc28e5b197	Clinical experience in an endemic area suggests an association between facial cutaneous @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8b3b93bb4c5047159c2cf5294d098bafec1eccf1	@DISEASE$ @PHENOTYPICFEATURE$ and syndrome of inappropriate antidiuretic hormone.	false
+f5889e8b675aefc4fd8a05fa5d543060cc939611	This tumor in the patient documents that the BL of patients with @DISEASE$ probably arises from characteristic @PHENOTYPICFEATURE$-specific chromosomal translocations, as hypothesized in 1980.	false
+6fcfabdbf2d70c52d290b3365a5dd530fc0f05c7	This @PHENOTYPICFEATURE$ in the patient documents that the BL of patients with @DISEASE$ probably arises from characteristic tumor-specific chromosomal translocations, as hypothesized in 1980.	false
+c8b3c1a72429893f4cd1fe6281c982be37f42265	This collaboration led to novel discoveries that shed light on the critical role played by NK cells in the immune response against virus and @PHENOTYPICFEATURE$ in humans, as best exemplified by our characterization of the molecular mechanisms of impaired control of Epstein-Barr Virus (EBV) infection in patients with X-linked lymphoproliferative (@DISEASE$) disease.	false
+0db700f4dbbf78cc1f7fa17a0ac75f3f730a1d17	Protracted cortical @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+1060ac1af4297d38331e6aee1504eb1147513e73	H&E staining showed that TTM could restore corneal epithelial thickness, reduce stromal @PHENOTYPICFEATURE$ (p?<?0.05) and decrease number of inflammatory cells (p?<?0.01) compared with @DISEASE$.	false
+8993856212c1dcfc073a345b5f44f6403f7c6b54	The second patient, an 8?months old boy was presented because of @DISEASE$ and unilateral @PHENOTYPICFEATURE$.	false
+09ebcbd27b2cd9402ea9eb88e749df5c0a40e16e	were benign neoplasms (nine haemangiomas, two schwannomas, one @PHENOTYPICFEATURE$) and 11 (45.9%) were malignant neoplasms (one leiomyosarcoma, one @DISEASE$, one malignant fibrous histocytoma, one mxyofibrosarcoma, two primitive neuroectodermal tumours, two synovial sarcomas, one spindle cell sarcoma, and two sarcomas not otherwise specified).	false
+280a0f2ee9767a53b778ea46bb59d2b05fa73124	[@PHENOTYPICFEATURE$ @DISEASE$].	false
+791f310fef04dee0795f95d55c8b089c50a5ec1c	Differential diagnosis includes @DISEASE$ and fibrolipomatous @PHENOTYPICFEATURE$.	false
+54126ed1ef165afb465251fcfa7eaf4f2f034053	The most important complication of @DISEASE$ is the development of @PHENOTYPICFEATURE$ due to AA type amyloidosis.	false
+b974f5872eae7c152b50190141fb8a957717e10a	Renal amyloidosis, which leads to @PHENOTYPICFEATURE$, is the most important long-term complication of familial Mediterranean fever (@DISEASE$).	false
+dfaed46eb1aacc85da363458da96738e155d574f	Renal amyloidosis, which leads to @PHENOTYPICFEATURE$, is the most important long-term complication of @DISEASE$ (FMF).	false
+a1d956be92ae9586e21c61a241657d52b4739a8a	We report a case of @DISEASE$ (FMF) complicated by nephrotic syndrome and @PHENOTYPICFEATURE$ due to amyloidosis.	false
+07bbcb28b116d74fa7581676f5e21d583b4b317c	We report a case of familial Mediterranean fever (@DISEASE$) complicated by nephrotic syndrome and @PHENOTYPICFEATURE$ due to amyloidosis.	false
+c113f63aedc802f71c1b89992b8def805ef871d0	Remission of progressive @PHENOTYPICFEATURE$ in @DISEASE$ during colchicine treatment.	false
+cd24d09e0436fac1fca5180258924a57566c0252	Eighteen out of 57 patients (31-6 per cent) suffering from @DISEASE$ (FMF) were found to have the nephrotic syndrome, histologically proven amyloidosis and progressive @PHENOTYPICFEATURE$.	false
+d4464355f961a1a353b178269732213267488fdc	Eighteen out of 57 patients (31-6 per cent) suffering from Familial Mediterranean Fever (@DISEASE$) were found to have the nephrotic syndrome, histologically proven amyloidosis and progressive @PHENOTYPICFEATURE$.	false
+6e1faa8445fcaca9cb5a726662a63d7ba2cae844	Familial Mediterranean fever (@DISEASE$) is an inherited @PHENOTYPICFEATURE$ disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea.	false
+3b0d5c0df7dfceaaf4c8fb43c234e5e5cb9d3e3b	@DISEASE$ (FMF) is an inherited @PHENOTYPICFEATURE$ disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea.	false
+fd71f3e498c1fb962d4688c1ba1c5538b4cd5b81	@DISEASE$ may be complicated by AA-type amyloidosis, worsening the prognosis, with associated @PHENOTYPICFEATURE$ in some patients.	false
+45dc7f2135ba48204f429a109d41f710ce77d64a	For clustering the @DISEASE$ patients, we evaluated the following variables: gender, current age, age at symptom onset, age at diagnosis, presence of major clinical features, variables related with therapy and family history for FMF, @PHENOTYPICFEATURE$ and carriage of M694V.	false
+70c30948e95e81fb322994b639da2f6c359a8a6a	For clustering the FMF patients, we evaluated the following variables: gender, current age, age at symptom onset, age at diagnosis, presence of major clinical features, variables related with therapy and family history for @DISEASE$, @PHENOTYPICFEATURE$ and carriage of M694V.	false
+d2c63744048ff81da16e4054a64b4be883f9019e	Renal vein thrombosis as the major cause of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a82cd0c235300460efdd88bb75ba04d014c99408	@DISEASE$ (FMF) is an autosomal recessive hereditary disease leading mostly to @PHENOTYPICFEATURE$ and nephrotic syndrome.	false
+96ccf2cc9077836ebaf61282f13b3f0d8a57aa06	Familial Mediterranean Fever (@DISEASE$) is an autosomal recessive hereditary disease leading mostly to @PHENOTYPICFEATURE$ and nephrotic syndrome.	false
+b39be68cb1f4d5ee365ef2766b284dd4e17d1c07	[Myxedema @PHENOTYPICFEATURE$ in a patient with type 1 @DISEASE$: rare association].	false
+ef5bab4c9a108c2220ad16000113932865975fbe	@PHENOTYPICFEATURE$ are well recognized in @DISEASE$ and cerebral aneurysms are rarely reported in literature.	false
+4774128f1c802b5809e71f5385faa8641b29ea15	To explore the genetic etiology for 11 @PHENOTYPICFEATURE$ patients with @DISEASE$.	false
+333db33121cbda1bfc9c7e805687c55cf988f3bf	@PHENOTYPICFEATURE$ in the central form of @DISEASE$.	false
+dc32ea98d8ca00108c61781d2938174791f7df59	Retinal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7ceae7b94eb3bc21bedae449d8aaae33e68f374f	Identification of causative mutations in patients with @PHENOTYPICFEATURE$-type @DISEASE$ has provided a basis for genetic counseling.	false
+8475ac463e96cd6f6db9a6568552bc17a81d2456	[A combination of generalized @DISEASE$ (Recklinghausen disease) and @PHENOTYPICFEATURE$].	false
+88a977553592fd67385651cfeb64df80564a4e4e	[A case of @DISEASE$ type I associated with basal @PHENOTYPICFEATURE$ and abnormal vessels].	false
+f08f48aa540b3e5c2e7e21f3b66769b7406c211d	[Histiomonocytic reticulosis with cutaneous @PHENOTYPICFEATURE$; discussion of an associated @DISEASE$].	false
+7a14491128ddc79ac7eed0628db9b427e986d9c5	[Analysis of NF1 gene mutations among eleven @PHENOTYPICFEATURE$ patients with @DISEASE$].	false
+69cb3cd4c3c92268a92e14f25b4516ff9d15c88e	A newborn with severe @DISEASE$ (NMS), characterized by aortic root dilation, mitral and tricuspid valve regurgitation, diaphragmatic eventration with respiratory distress, intestinal malrotation, and various @PHENOTYPICFEATURE$, developed bilateral pupillary block from luxated crystalline lenses.	false
+1a505535a04cc2a83b7d961985d9543af6a2456d	We report a 36-year-old patient with @DISEASE$ who presented with rhinorrhoea, occipital headache and @PHENOTYPICFEATURE$.	false
+de90e14eb9be957bf5a50da907a1ee4d75e4b75e	A 24-year-old man with history of @DISEASE$ presented to our hospital with abdominal distention, @PHENOTYPICFEATURE$, fluid in the incision region, and weakness.	false
+3c4ee24acb5b103f8499f3b177037c95da606c3d	Therefore, we propose that close monitoring of the presence of @PHENOTYPICFEATURE$ in MFS patients, during regular vascular imaging of the whole aorta trajectory, may provide insight in the frequency of cystic kidney disease and its potential as a novel indicator of aneurysm progression in @DISEASE$ patients.	false
+725caf2a99aff052fcd0d150396bfdc594ac0abf	Therefore, we propose that close monitoring of the presence of @PHENOTYPICFEATURE$ in @DISEASE$ patients, during regular vascular imaging of the whole aorta trajectory, may provide insight in the frequency of cystic kidney disease and its potential as a novel indicator of aneurysm progression in MFS patients.	false
+6e6757118a9a9bd984de7bf8ea614ccbcbf412b6	Miller Fisher syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, external ophthalmoplegia and areflexia.	false
+1387eacdc62ae8fd8258a4f271325215ca19fa06	AIDS (9.8%), diabetes (9.8%), and @PHENOTYPICFEATURE$ C (4.6%).Two patients had Hansen disease; 1 had @DISEASE$.	false
+7045b4a1ae05c25035f2672320443b5cedbd419a	A 33-year-old Chinese male suffered from @DISEASE$ combined with giant abdominal aortic aneurysm, and presented with back pain, fever, nausea, @PHENOTYPICFEATURE$, abdominal distention, and constipation.	false
+5cf01ad3305564bc81fd34290c4ad15e83f5347e	A case of homocystinuria with lenticular subluxation was misdiagnosed as @DISEASE$ since the patient had no apparent @PHENOTYPICFEATURE$ and had had a negative neonatal screen for homocystinuria.	false
+16b107eec1cd490cf77783cf6d3e52f2e789968a	A 73-year-old female with @DISEASE$ and history of multiple aortic aneurysms presented to an outside hospital with dysphagia, a mass in her neck, dizziness, @PHENOTYPICFEATURE$.	false
+e20cd0e8a43b20adb1ea42de5c6c5bff298f639a	@DISEASE$ patients have liver and @PHENOTYPICFEATURE$ more often, in increased number, and at an earlier age than controls, in addition to an increased prevalence of cholelithiasis.	false
+eb546542e52ac85568901ca48f4e0e01da153e57	These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and @PHENOTYPICFEATURE$, @DISEASE$, coxo-auricular syndrome, and Johanson-Blizzard syndrome.	false
+362fe6408e398676368c2bbe62b3627f38f8ddb3	Previous clinical and cytogenetic evidence suggests that @DISEASE$ is caused by an X-linked dominant @PHENOTYPICFEATURE$, de novo in females and lethal in males.	false
+984bef62b51060b501294f8dd95205cd9587f5cf	@DISEASE$ (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant @PHENOTYPICFEATURE$, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae.	false
+a1fa4a970e4081881ae06cfaf93c25b3b19fedef	Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese @DISEASE$ patients revealed two known and three novel mutations including a deep intronic @PHENOTYPICFEATURE$.	false
+72f7e9a08a199af0be98876f53fbe6c667214f7f	@PHENOTYPICFEATURE$ is a previously unidentified complication of @DISEASE$ in remission state.	false
+91e48920221dee8989cec6aa93b10ad78b775100	Abnormal responses to hypoxia of @DISEASE$ who had developed @PHENOTYPICFEATURE$ at high altitude.	false
+70a3ebb91ec7d5e7dd02d3aea4293698d4737bae	@DISEASE$ @PHENOTYPICFEATURE$ as a variant of primary cutaneous meningioma is extremely rare, and this is the first report of such a case in Japan.	false
+7736c06a147747e42bec6dea4418081bc3135d1b	The patient's brother also had the @DISEASE$ @PHENOTYPICFEATURE$ of the scalp.	false
+5e798979fdd5c4aee201507a3ac52587e05088d2	@DISEASE$ @PHENOTYPICFEATURE$ of the scalp.	false
+e824bf4a508d14ffe673d2b4ff345d73ab6b63c4	@DISEASE$ @PHENOTYPICFEATURE$ associated with spinal dysraphism in an elderly patient is an extremely rare clinical presentation.	false
+b838bb7e358b4bd11709a60766b2e8f260f4d999	@DISEASE$ @PHENOTYPICFEATURE$ associated with spinal dysraphism should be kept in mind, even in adult cases.	false
+f290051e7ce9d0e371a5353b867a3c9425281a3e	The autopsy showed brain and @PHENOTYPICFEATURE$, numerous small @DISEASE$ meningiomas, bilateral and symmetrical juxtaventricular meningiomas, and a well-demarcated gray tan tumor in the medulla oblongata and upper cervical spinal cord.	false
+9f618565b14a20fde2efe09d13660f055d5ef8ac	@DISEASE$ angiomatosis, arhinencephaly, agenesis of the corpus callosum and large @PHENOTYPICFEATURE$ of the brain, with neoplasia, in an infant having bilateral nasal proboscis.	false
+4a25826178e021a5e498eea23ef4fbb9ad407785	Lumbar @DISEASE$ @PHENOTYPICFEATURE$ and epidermoid cyst associated with spinal dysraphism in an elderly patient.	false
+16fed69ebef785a559f5d8b77b3e936f5d167ad1	The diagnosis of @DISEASE$ @PHENOTYPICFEATURE$ was based on the histological and immunohistological findings of the specimen obtained from the tumor.	false
+0233ef777e759bef0986bf7ca3b49330cae494fa	Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including @PHENOTYPICFEATURE$ type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and @DISEASE$.	false
+0a3af298a81ce1558e33c0f7057f364e4395e4d1	We report a case of a patient with Chagas and @DISEASE$ who had early cardiac involvement and rapid evolution to @PHENOTYPICFEATURE$.	false
+2e42bc5dc43bd16f17ed8d78e9414bf1da9f4684	Uniparental isodisomy of chromosome 1 results in @DISEASE$ with profound @PHENOTYPICFEATURE$.	false
+63076b624d5fc560696a4ea1228097d17e1f63be	Individuals with @DISEASE$ present with hepatomegaly, hypoglycemia, hyperlipidemia, and @PHENOTYPICFEATURE$.	false
+02c018fdfcb973b14bf33b5b64f9b1a94b941689	The patient is undergoing optimized treatment for @PHENOTYPICFEATURE$ and enzyme replacement therapy for @DISEASE$.	false
+89f4e29eee17ab3cb401f540df7064a871cc82a2	X-linked liver @DISEASE$ (XLG II) is a recently described X-linked liver glycogen storage disease, mainly characterized by enlarged liver and @PHENOTYPICFEATURE$.	false
+260d0c3b9bccbf17254aa640c21f41684010eabc	In contrast to the early infantile-onset form of Pompe disease, mild and rather non-specific @PHENOTYPICFEATURE$ can be detected by CMR only in a small proportion of patients with late-onset @DISEASE$.	false
+56694abe33ed54f60fb9e80e08f197ce73346eee	In contrast to the early infantile-onset form of @DISEASE$, mild and rather non-specific @PHENOTYPICFEATURE$ can be detected by CMR only in a small proportion of patients with late-onset Pompe disease.	false
+d0bacb526358bdaba3962a99bc8ba3fab59e0205	We describe a patient with late-onset @DISEASE$ with renal magnesium wasting, @PHENOTYPICFEATURE$ hypocalcemia, hypocalciuria and osteopenia.	false
+e1ca698a4a9e553ec75c823d0bcaeb3e385de047	We describe a patient with late-onset @DISEASE$ with renal magnesium wasting, hypomagnesemic @PHENOTYPICFEATURE$, hypocalciuria and osteopenia.	false
+8578684a74f408c096e2553177d47efb1e2d6920	@PHENOTYPICFEATURE$ in late-onset @DISEASE$ and response to enzyme replacement therapy.	false
+604b84432d622ab072c29347d3944460a1a756e7	Renal magnesium wasting, hypomagnesemic @PHENOTYPICFEATURE$, hypocalciuria and osteopenia in a patient with @DISEASE$.	false
+12e45c47454721434f8180d9eaa3da5581ff3348	Renal magnesium wasting, @PHENOTYPICFEATURE$ hypocalcemia, hypocalciuria and osteopenia in a patient with @DISEASE$.	false
+7d043d3be1367aabb2613dc72966a7b928445733	The authors describe a case of @PHENOTYPICFEATURE$ in an 8-month, 2-week-old infant who had been previously diagnosed with @DISEASE$.	false
+3eacb8d79e03288b26027270fcc3a1f136f5925c	Here we describe a case of @DISEASE$ with distinct @PHENOTYPICFEATURE$ including full cheeks, shallow orbits, and high arched palate, opisthotonus with clenched hands and feet; in addition to a family history of a female sibling with a similar clinical picture who died at 3 months of age.	false
+7a3c26206df7968cedb94b4af074887903a51805	@DISEASE$ is an uncommon disease that may manifest initially as posterior cranial fossa @PHENOTYPICFEATURE$ and subsequent acute hydrocephalus owing to diffuse cerebellar swelling.	false
+66df77f441ae2d4765ecd2fce5010e03b6448c6a	This case supports the concepts of posterior cortical @PHENOTYPICFEATURE$ (@DISEASE$) as a clinically distinct entity and for the first time documents its corresponding metabolic deficit using PET.	false
+4474f71efd4a9a4295cef8cdc9dd1c0456386b1c	Oral-facial-skeletal (OFS) syndromes include short rib-@PHENOTYPICFEATURE$ (SRP) and oral-facial-digital (@DISEASE$) syndromes.	false
+76b9894d61db23fc522bfc006eb9b6c88bbd636d	Comparing malaria with @DISEASE$, jaundice, nausea, @PHENOTYPICFEATURE$, and reports of fever were more prevalent in the malaria group.	false
+3129c06a45b76ee28465626b0bddf08dd5ac7d70	Bilateral duplication of the hallux, @PHENOTYPICFEATURE$ of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (@DISEASE$) type II syndrome.	false
+7ce15910a57ef4d942b0c719c31068300618d1dd	Oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, @PHENOTYPICFEATURE$, syndactyly).	false
+da85ebf0058ea78c3a7a2f8874b5ef087f1c4962	@DISEASE$ syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and @PHENOTYPICFEATURE$.	false
+a7fb8cd7cd8ec9ec710d728c7745f5ab5c3ade07	Analysis of 184?individuals with various ciliopathies (@DISEASE$, Meckel, Joubert, and short rib @PHENOTYPICFEATURE$ syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.	false
+73d1652c195ac9ac4ca7af72c4168bf279ba9b2b	Analysis of 184?individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib @PHENOTYPICFEATURE$ syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and @DISEASE$ IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.	false
+c83ba7956bcd5d6abe317010c9e8ecf65fad3ac4	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, @PHENOTYPICFEATURE$, micrognathia and glossal defects.	false
+c09cb6fba039f2941fa8126f6e7cf2a044c8f53b	Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (@DISEASE$), and show that the OFD patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	false
+966a4384e6fe268bbf9eaafdb6e89aef2a395163	Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (OFD), and show that the @DISEASE$ patient shares several morphological features with the Tmem107 mutant mouse including @PHENOTYPICFEATURE$ and reduced numbers of ciliated cells.	false
+9b915e09e0ac002f06e406b955145bfd2d817e6c	The features of @DISEASE$ type II overlap with those of OFD type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	false
+d1d05af535b571539e6e04a63a8171b6e3560f66	The features of OFD type II overlap with those of @DISEASE$ type VI, Joubert syndrome, and short rib @PHENOTYPICFEATURE$ (Majewski syndrome).	false
+e069caa98cfdc66f03df2becc7a3abbf5c7ce151	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, @PHENOTYPICFEATURE$ and skeletal dysplasia.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+93a578bad3b1951a5ff85dd231368bdd87193a86	Male sex, @PHENOTYPICFEATURE$, and low lean mass are associated with low @DISEASE$ in CF.	false
+b2d681b32015c217624fbee168615e855dfae9ef	Prognostic impact of @PHENOTYPICFEATURE$ in patients with Duchenne/@DISEASE$--prospective multicenter cohort study.	false
+385098a4058a1e6fc6923896eea648149ad4e0b5	@DISEASE$ by DXA is within normal range for most, particularly after correction for @PHENOTYPICFEATURE$.	false
+8d2035e561ef38ce38bf8329ba238ba9e6f949e1	% of subjects with short stature showed a low measured @DISEASE$ Z score depending on the measured site, only 2.6 % of those of @PHENOTYPICFEATURE$ had a low adjusted BMD Z score after applying the predicted BMD Z score.	false
+f38c796ad98bb69adb8cb48e169f8955940810a8	% of subjects with @PHENOTYPICFEATURE$ showed a low measured @DISEASE$ Z score depending on the measured site, only 2.6 % of those of short stature had a low adjusted BMD Z score after applying the predicted BMD Z score.	false
+65150d21cb6bbf7b22df33a137cef34c416038c4	% of subjects with short stature showed a low measured BMD Z score depending on the measured site, only 2.6 % of those of @PHENOTYPICFEATURE$ had a low adjusted BMD Z score after applying the predicted @DISEASE$ Z score.	false
+bc58be38085cd49c6702bbd9f452493106cb800e	% of subjects with @PHENOTYPICFEATURE$ showed a low measured BMD Z score depending on the measured site, only 2.6 % of those of short stature had a low adjusted BMD Z score after applying the predicted @DISEASE$ Z score.	false
+b8025b8e03e3ceaa5e8094986fc364eb079056c8	The effect of GH on the @DISEASE$ of children with idiopathic @PHENOTYPICFEATURE$ is unknown.	false
+6056d597bdaff216a5040f70fb5545023fa23b65	These @DISEASE$ patients, who present with visual failure and @PHENOTYPICFEATURE$ in middle age, can be misdiagnosed as being affected with adult-onset macular dystrophies instead of BMD, because the latter is often regarded as a disease of childhood and adolescence.	false
+cb9e619a59d4d33c31591d70ddb3ca4bef5e3fd0	These BMD patients, who present with visual failure and @PHENOTYPICFEATURE$ in middle age, can be misdiagnosed as being affected with adult-onset macular dystrophies instead of @DISEASE$, because the latter is often regarded as a disease of childhood and adolescence.	false
+acacfc4c6cd13c124f40e46cb36105176f57eac7	While de novo @PHENOTYPICFEATURE$ is quite common in @DISEASE$/DMD patients, it is rarely reported in the female carriers.	false
+67fb1a034f73cab440df98ea6b3e0f146eea5ee5	Adjustments for @PHENOTYPICFEATURE$ must be considered during @DISEASE$ interpretation.	false
+7eb902bb2b1076b602d16bfd602b26e8c4041c61	@PHENOTYPICFEATURE$ is a well-recognized feature of Duchenne muscular dystrophy, whilst it has been reported rarely in Becker muscular dystrophy (@DISEASE$).	false
+d54fc5cd1f1dccaa1e500633ecfc5f1a8e7b688b	@PHENOTYPICFEATURE$ is a well-recognized feature of Duchenne muscular dystrophy, whilst it has been reported rarely in @DISEASE$ (BMD).	false
+42fc2feda877ed3c0b6c4bb1d33092b55e947b60	@PHENOTYPICFEATURE$ in elderly, low @DISEASE$ and fractures correlated with increased arterial stiffness and hypertension.	false
+fcff5eac00f4edd6d53281ccb5e113f60c97572b	Progressive fluctuant hearing loss, @PHENOTYPICFEATURE$, and cochlear hypoplasia in @DISEASE$.	false
+fe458275c4fbed1d2f36406fdf5757f27b2932bf	@DISEASE$ presenting with syndrome of hyporeninemic @PHENOTYPICFEATURE$.	false
+d657f4921f354c18707d60a6e5f6a277f2b82197	Using the array-comparative genomic hybridization, we identified non-recurrent genomic deletions including the EYA1 gene in three patients with @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay.	false
+9d124ef247913976d59525d20519a22c077a9706	In our family with the @DISEASE$, a @PHENOTYPICFEATURE$ and progressive hearing loss is found in a few affected family members.	false
+85d39cdf4abf6fd6c807d58fc54ac9c2585e3ec3	Cerebellar swelling with obstructive @PHENOTYPICFEATURE$ is a rare but life threatening condition, associated with different etiologies, @DISEASE$ (HLH) being rarely one of them.	false
+30eedb2fba13bbf35b86830264c593ecc3ee5b13	@DISEASE$ (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+ec61e94caac0518f7a23e98661f7e5c876cf440d	Saethre-Chotzen syndrome (@DISEASE$), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+6345524308dd0570514cbfff0f1753e3b7b38ec8	Thirty-two unrelated patients with features of @DISEASE$, a common autosomal dominant condition of craniosynostosis and @PHENOTYPICFEATURE$, were screened for mutations in TWIST, FGFR2, and FGFR3.	false
+0e64d6785017496bf03f51001e9481dc31c13fbd	@DISEASE$ is a common craniosynostosis syndrome characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+0ed83f7d820b8587da32ac69512ff5d8a88a2e88	@DISEASE$ is one of the most common autosomal dominant disorders of craniosynostosis in humans and is characterized by craniofacial and @PHENOTYPICFEATURE$.	false
+d2af47d229af6b8c74ce97c66024ea857e98e386	The pattern of @PHENOTYPICFEATURE$ in the cervical spine, hands and feet in patients with @DISEASE$ and Muenke-type mutation.	false
+67c3c9dcf3743ae32e8bc044fad612da84731f3b	Contiguous gene deletion neighboring TWIST1 identified in a patient with @DISEASE$ associated with @PHENOTYPICFEATURE$: Possible contribution of HDAC9.	false
+a48e1e17468f30c303914a246075c913b95667cc	Application of @DISEASE$ for @PHENOTYPICFEATURE$ and spasticity.	false
+c283bccfecaf25bbf370ea8f1d853e83f8912ead	Non-pain-related indications for @DISEASE$ are @PHENOTYPICFEATURE$, spasticity, and sequelae of spinal cord injury.	false
+20e25eacc95f29d9bd1ad20a59bbfb6d5c519c11	Saethre-Chotzen syndrome (@DISEASE$) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and @PHENOTYPICFEATURE$ including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities.	false
+053dd7ed8f517f6ce8f4f67a51ddde0ff247cd69	@DISEASE$ (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and @PHENOTYPICFEATURE$ including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities.	false
+270054a796366323935c9ad5923437e6c885f17a	20 patients with @PHENOTYPICFEATURE$ and spasticity were treated with @DISEASE$ to decrease tonus and improve impaired motor function.	false
+1e04c11dfdf43906568d2bd1ca55db055f9ac38a	@DISEASE$ vs @PHENOTYPICFEATURE$.	false
+c40c67df4c66b60a71a558339f437adc90201ff0	We describe the features of Fowler syndrome (proliferative vasculopathy and @PHENOTYPICFEATURE$-@DISEASE$) diagnosed in the first trimester.	false
+20185ef59183b7577db7f18203ffc4266d04438f	Fowler syndrome, also known as proliferative vasculopathy and @PHENOTYPICFEATURE$-@DISEASE$, is a lethal condition characterized by hydrocephalus associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy.	false
+1c24b77c7cb0da4633b3a846acbfbfa88d1633bf	Fowler syndrome, also known as proliferative vasculopathy and hydrocephaly-@DISEASE$, is a lethal condition characterized by @PHENOTYPICFEATURE$ associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy.	false
+3c4835239945d3d0c94a17c117323b93e4ab8eda	The diagnosis of proliferative vasculopathy and @PHENOTYPICFEATURE$-@DISEASE$ (Fowler syndrome) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester.	false
+e27f1c5ae73ed7c30499ce4cc12007dfb25605b2	Fowler syndrome is a rare autosomal recessive disorder characterized by @DISEASE$-@PHENOTYPICFEATURE$ and multiple pterygium due to fetal akinesia.	false
+95a7ac5adde2a70f5ccef279a397213b1ac1c8b9	@DISEASE$ and maximal @PHENOTYPICFEATURE$: usefulness of electrophysiological studies for their differentiation.	false
+e727499030ec65b31097c91309fcf7e59e5b4d7b	An 11-month-old boy was discovered to have a @PHENOTYPICFEATURE$, @DISEASE$, hypospadias, and myoclonic seizures.	false
+243e6487d3ef372097351db5bdc2dff7d892719e	Major malformations such as @PHENOTYPICFEATURE$, @DISEASE$ and micrognathia were observed in 11 out of 16 newborns from 3 pregnant sows which received 3.6 mg/kg/day.	false
+597a93c0730adbef4841dd8f0cbd9acb1ffe04c8	Camptodactyly, @PHENOTYPICFEATURE$, and @DISEASE$ (the Gordon syndrome).	false
+7c106b7ce77473d5ca874b204e434b94efe96719	Kniest dysplasia is an extremely rare form of type II collagenopathy associated with @PHENOTYPICFEATURE$, micrognathia, shortened trunk, arms and legs, and @DISEASE$.	false
+7f2973700601502482aaf2d3b23803e363c2d52a	The other most common anomalies associated with cases with DS were syndactyly, @DISEASE$, polydactyly, limb reduction, cataract, hydrocephaly, @PHENOTYPICFEATURE$, hypospadias and diaphragmatic hernia.	false
+bd95c160e64e230601b3048c055f8deb9a4007e1	Prenatal imaging is crucial in early diagnosis by identifying fetal movement limitations and the presence of @DISEASE$ or @PHENOTYPICFEATURE$.	false
+1ed6f3cb93931b8b993ac53ec3dd91d7824a2de8	Camptodactyly, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9a8e8e81c02ee3c98c38b751201c8500a21e639a	Caretakers were asked to identify on a photographic portfolio, several congenital malformations present among the children in their household, including @DISEASE$, @PHENOTYPICFEATURE$, hydrocephalus, spina bifida/encephalocele, cleft lip, bladder exstrophy and imperforate anus.	false
+8b3810915f6741558b1a8f41aeff1a290193cdf0	Tibialis anterior tendon transfer is recommended to correct residual dynamic supination deformity and to restore muscle balance after satisfactory correction of idiopathic @DISEASE$ @PHENOTYPICFEATURE$.	false
+75f6678d9203a5c718a89ceed88e0896b84eac8e	But if the deep flexor compartment is not split completely or if the muscles are crushed by direct trauma severe necrosis and subsequent muscle @PHENOTYPICFEATURE$ result in a very severe @DISEASE$ deformity.	false
+5a93eb040c29b8b1c17d4df9922d3e724bc8d10c	@PHENOTYPICFEATURE$ and kyphotic deformity are two major disease-related problems of spinal @DISEASE$, especially in the early age disease.	false
+6c74c8414ebccf480e7f2b94216990cfbe54ab0e	@PHENOTYPICFEATURE$ following isoniazid therapy for @DISEASE$ in a patient with uremia.	false
+def4069a98f2822c01ca6c0c10da68da9937b292	These conditions include immune and inflammatory disease such as: primary and hepatitis C virus (HCV)-related glomerulonephritis; infectious disease such as pyelonephritis with or without reflux and @DISEASE$; vascular disease such as chronic ischemic nephropathy; hereditary and congenital disease such as polycystic disease and congenital cystic dysplasia; metabolic disease including diabetes and @PHENOTYPICFEATURE$; and systemic disease (collagen disease, vasculitis, myeloma).	false
+97d1c63646282b78cf183da9ca6ac72bd2205500	[@PHENOTYPICFEATURE$ in chronic cor pulmonale in patients with @DISEASE$].	false
+ae4fc6470f551437449409a7fdbdfde29e8812b1	The node degrees were highest for individuals with tuberculosis + HIV infection (p < 0.04) and lowest for those with @DISEASE$ + @PHENOTYPICFEATURE$ (p < 0.07).	false
+d933c771132bb21b2cfbf7ee063106f1e63116f0	The node degrees were highest for individuals with @DISEASE$ + HIV infection (p < 0.04) and lowest for those with tuberculosis + @PHENOTYPICFEATURE$ (p < 0.07).	false
+c81ddf4e9c3db20c8c88861920610e032c972df7	Frailty and mortality risk were examined using indicators of stress (cribra orbitalia, porotic @PHENOTYPICFEATURE$, nonspecific periostitis, and enamel hypoplastic defects), specific metabolic and infectious diseases (rickets, scurvy, and @DISEASE$), and dental health (carious lesions and calculus).	false
+9e1fdef909ce14207f705890be1fed9204d4ca8e	However, pneumonia, malignancies, @PHENOTYPICFEATURE$, abdominal disease and @DISEASE$ are the major causes (around 90%).	false
+525ea30deba80834266352f0bb1168f8d72a9298	These conditions include immune and inflammatory diseases such as primary and HCV-related glomerulonephritis; infectious diseases such as pyelonephritis with or without reflux and @DISEASE$; vascular diseases such as chronic ischemic nephropathy; hereditary and congenital diseases such as polycystic disease and congenital cystic dysplasia; metabolic diseases including diabetes and @PHENOTYPICFEATURE$; and systemic diseases (collagen disease, vasculitis, myeloma).	false
+4b3d88af24c470212378579790b11d29f120c8c0	Respiratory complications of chronic renal failure include @PHENOTYPICFEATURE$, fibrinous pleuritis, pulmonary calcification, and a predisposition to @DISEASE$.	false
+c0ebfabc1b2781de9200117c8f05245e54e6b68a	The clinical symptoms were concealed and often misdiagnosed as a @DISEASE$ tumor, @PHENOTYPICFEATURE$, peripheral lung cancer or a single metastatic tumor.	false
+44bf63525554a78bdf02693d7c4081cc75d5c844	Heterozygous HOXA13 mutations have been previously reported in hand-foot-genital syndrome and @DISEASE$, which are variably associated with @PHENOTYPICFEATURE$, short distal and middle phalanges, short thumbs and halluces, but not absent nails.	false
+3038adf2cca4d60e5d632cf9fcbecb11f51ef6ef	Although skeletal malformations appear to be the most frequent, the association of a @PHENOTYPICFEATURE$ with @DISEASE$ has never been described before.	false
+2e29dd1dcf227b9febee4a2b16d513af9ecc4d41	The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a @PHENOTYPICFEATURE$), developmental delay, mild mental retardation, peripheral nerve palsy, and @DISEASE$ (AHO)-like phenotypes (short stature and brachydactyly).	false
+1990644a22efd679248af6098772dd04dfed3cdd	Physical examination revealed psychomotor and @PHENOTYPICFEATURE$, facial dysmorphism and brachydactyly, suggestive of @DISEASE$-like phenotype.	false
+fb108dcaabb79bfabfd0ba21b74a702e9104f300	Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and @PHENOTYPICFEATURE$, autistic-like behavior, @DISEASE$-like metacarpal/metatarsal shortening, and facial characteristics.	false
+0e5470f3ebe2af56ffbc49fbab46fd1dafcd2bf7	Chromosome 2q37 microdeletion syndrome should be considered in the differential diagnosis of patients presenting with psychomotor and @PHENOTYPICFEATURE$ and an @DISEASE$-like phenotype, especially in the presence of brachydactyly, even if the characteristic facial features are missing.	false
+b296a612a21ce55f7b540264cc4f2241d830dd9b	Typically, HSP is considered to be self-limiting, although renal involvement (@DISEASE$ @PHENOTYPICFEATURE$ nephritis, HSPN) is the principal cause of morbidity from this disease.	false
+4200a78d2432339e48106bf1ad87cad202c1ab1f	Taken together, these observations are the first to show that MDMA has the capacity to disrupt BBB permeability to proteins and to induce the formation of @PHENOTYPICFEATURE$, probably by inducing hyperthermia and cellular stress, as evident with @DISEASE$ overexpression leading to cell injury.	false
+e54beef900e022b5a1198fb780cf440d7d4fd4b0	We found that neurologic symptoms, localized @PHENOTYPICFEATURE$ and high serum C3 level show a significant relation with scrotal involvement in male @DISEASE$ patients.	false
+486559ce26de511797813ae40ae0a2885eba0352	@DISEASE$ (FSP) with severe @PHENOTYPICFEATURE$ of hands and feet is exceptional.	false
+bfa35ae2ee3d4817a5ee9fa7ab759899f0a69ccb	An autopsied case of autosomal recessive @DISEASE$ with severe @PHENOTYPICFEATURE$ is described herein.	false
+890bc30b900937e83643f8de49154613e1b99d25	[A new type of complicated form of @DISEASE$ showing mental deterioration, quadriplegia with @PHENOTYPICFEATURE$, sensory disturbance, extrapyramidal disorders, and epilepsy].	false
+9ff2fae5e4cf122568093a63e0f3ec1d6af18aeb	According to this occurrence of uncommon @PHENOTYPICFEATURE$, risk of malignancy could be a component of @DISEASE$.	false
+487a8cc16fa5d2e49ff99dff5f9f5a4652eb4b83	Sacral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ec02dec1f42d5ed69ab618987e75cab0713e0c9b	Malignant retroperitoneal @PHENOTYPICFEATURE$ arising in a multicystic dysplastic kidney of a girl with @DISEASE$.	false
+7dfb3559183f1d6437ea93e682f357ae387dbbe7	Intensification of chemotherapy does not seem to be feasible for @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e3774a161752c01e9e3778fe7164e649a9e10b3e	We report the first case of malignant retroperitoneal @PHENOTYPICFEATURE$ arising in a multicystic dysplastic kidney of an 8-year-old girl with @DISEASE$.	false
+74d3397d481cc7e061fea3ad3aa99a8539f667ec	In a study performed on transformed (@DISEASE$/3A) and normal syngeneic rat cells (FG/2) to identify the molecular mechanisms which regulate cell adhesion and contact inhibition in cell transformation, we investigated the effects of @PHENOTYPICFEATURE$ promoters on cell to cell adhesion of rat fibroblasts.	false
+1872fd0e01e207b4521f8f07d482b41e02a86ab6	Congenital hydronephrosis, @PHENOTYPICFEATURE$, and severe developmental retardation: the @DISEASE$.	false
+b439a75dc3881ea2e858439185e1be0bd4f8234e	Moreover two distinct @PHENOTYPICFEATURE$-associated apoptotic phenotypes emerged: the first pattern was the typical one and was found in cells with a low transition through the S/G2 phase (Jurkat), and the second one was mainly characterised by a cell death derived from micronucleated and mitotic cells, as a consequence of a low transition through the M/G1 phase (@DISEASE$/3A).	false
+c7f08242961fec2ffa9044046199678fc7eefd85	Forty-six patients with @PHENOTYPICFEATURE$ were included in the study: 30 patients affected by @DISEASE$, 7 patients with myelodysplastic syndromes at intermediate/high risk, according with the International Prognostic Scoring System, and 9 patients with myelomonocytic leukemia.	false
+08ad431d810f9d4f11aba881c978406656ccc138	Aiming to establish a reliable molecular tool that could be easily implemented in routine diagnostics, we developed a new real-time polymerase chain reaction (PCR) assay for CCND1 expression measurement and evaluated 451 cases: 142 MCL, 76 @DISEASE$, 20 hairy cell leukemia, 13 hairy cell leukemia-variant, 20 splenic marginal zone lymphoma, 91 other mature B-cell neoplasms, 29 other @PHENOTYPICFEATURE$, and 60 healthy individuals.	false
+e7f3486c51153ef2e4d17b459d2c33641cf7052b	We present a 67-year-old patient with @DISEASE$ (CLL) who presented with weight loss of 40 pounds, severe diarrhea, @PHENOTYPICFEATURE$ and hypokalemia.	false
+82f96cfc3938d8f690e578ab5fe7c43c3950a71c	An array of investigations revealed @DISEASE$ (CLL), mediastinal and para-aortic lymphadenopathy, bronchiolitis obliterans, and vertebral @PHENOTYPICFEATURE$/fractures.	false
+37aa687534c075cbb724edab76797779d711e4ad	Specific missense and in-frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+cf207dc310e0009b54ef886ad05ce31eae83adda	Up to 10% of cases of IVLBCL are associated with other @PHENOTYPICFEATURE$, including this extremely rare presentation of IVLBCL as Richter's transformation in @DISEASE$.	false
+367028014e607ed07871d75030cb6dd32011bb44	Chronic myelogenous leukemia (CML) and @DISEASE$ (CLL) are two different and common @PHENOTYPICFEATURE$.	false
+23ea8b6c54fe6e3c02d6bfdcb25d87b76936edd5	The present review provides information on 63 miRNA genes shown to be epigenetically regulated in association with 21 diseases, including 11 cancer types: cardiac fibrosis, cardiovascular disease, preeclampsia, Hirschsprung's disease, rheumatoid arthritis, systemic sclerosis, systemic lupus erythematosus, temporal lobe epilepsy, @PHENOTYPICFEATURE$, pulmonary fibrosis, melanoma, acute myeloid leukemia, @DISEASE$, colorectal, gastric, cervical, ovarian, prostate, lung, breast, and bladder cancer.	false
+71337e6d791279b0b332ea051922cb1021a28891	@DISEASE$ was assessed by dental evaluation and @PHENOTYPICFEATURE$ was verified by medical history.	false
+d4f7bc08f1b5a0089524d7d0d3aa3324950ef083	@DISEASE$ symptoms (Group I, II and III) were also associated with @PHENOTYPICFEATURE$ and headache.	false
+471aacccc680b94c71e131b8b1506993d5e0dc57	The results revealed that tinnitus and @PHENOTYPICFEATURE$ were significantly more prevalent in the @DISEASE$ group than in either control group.	false
+a8dd9c2064027ab8fd6b199a25eb6e7b0875d46d	The observation that patients with @DISEASE$ have otologic symptoms is confounded because tinnitus and @PHENOTYPICFEATURE$ are common symptoms in the normal population.	false
+909f23aa322cbceb647fc4b067ea91348b48e23c	Tinnitus and @PHENOTYPICFEATURE$ symptoms were significantly more prevalent in the @DISEASE$ group than in either of the control groups.	false
+2279b54de9c00a9d3b5401f10734482fff4a0569	When painful, @DISEASE$ are generally associated with @PHENOTYPICFEATURE$ of the overlying skin.	false
+be6c7beb262f6cff8b3a7d944c7c8f5a7db7c75c	Of the subjects with otalgia, tinnitus, @PHENOTYPICFEATURE$, or perceived hearing loss, 67%, 64.1%, 65.2%, and 62.2% had @DISEASE$, respectively.	false
+d81d0d674166f9697e1ca134b619b7a3ada0e567	It was concluded that tinnitus is associated with @DISEASE$ and with otalgia, dizziness/@PHENOTYPICFEATURE$, stuffy sensations, hypoacusis sensation and hyperacusis, as well as with higher depression levels.	false
+d54a893929610e308958ebdc6d18b309770e8417	Two hundred TMD patients with coexisting tinnitus, otalgia, dizziness, and/or @PHENOTYPICFEATURE$ were asked about their otologic symptom characteristics and associations and were given clinical tests, which were speculated to predict otologic symptom response from @DISEASE$ therapy.	false
+76b8e70621f5224eca3dd84acc7e029bc02a91e3	Two hundred @DISEASE$ patients with coexisting tinnitus, otalgia, dizziness, and/or @PHENOTYPICFEATURE$ were asked about their otologic symptom characteristics and associations and were given clinical tests, which were speculated to predict otologic symptom response from TMD therapy.	false
+a688f5b7c098209790dad3b9efb7b116f76f36e5	The present study was conducted to determine if tinnitus and @PHENOTYPICFEATURE$ are actually more prevalent in patients with @DISEASE$ than in appropriate age-matched controls.	false
+2f55a83f03c67d9d003aadc760a8d1e2a2aea452	Five additional @DISEASE$ patients with rhabdomyosarcoma: proposal for a @PHENOTYPICFEATURE$ screening protocol.	false
+355000c36407f9a1503398fa1e1af4dcf6427cf2	@DISEASE$ is characterized by facial dysmorphia, hyperpigmented skin, palmar and @PHENOTYPICFEATURE$, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short stature, mental retardation and sociable personality.	false
+5326cf48d875d15bfa68c1564ef40d9ab706b792	Despite possible ascertainment bias, and the incomplete identification of all @DISEASE$ patients, the @PHENOTYPICFEATURE$ frequency could be as high as 17%.	false
+5fd2889bc32c6fe0ce1a6ceb2d2bed2bf7369cbc	In contrast to somatic oncogenic mutations in @PHENOTYPICFEATURE$, the @DISEASE$ changes are typically introduced in the paternal germline.	false
+f8abb78463d4dd5c7f7ad5755afd2bc5a60096e7	This is the first report of a gastric fibroid polyp in @DISEASE$, a genetic disease with a high @PHENOTYPICFEATURE$ frequency.	false
+8c8448e91f7fd4279122ceaff2ce214d9e9d71c9	This third report suggests that neural crest @PHENOTYPICFEATURE$ may be a significant risk factor for children with @DISEASE$.	false
+e71ac2b618e1ee7f4833afa2e9137c04e4237a0f	[@DISEASE$: clinical aspects and @PHENOTYPICFEATURE$ risk].	false
+ada828d4948bbd8b6dfa35a3921b033249d2abff	Although this indicates that the presence of a @PHENOTYPICFEATURE$ is not specific for @DISEASE$ with HRAS mutation, it is noteworthy that the tumor histology differs from those commonly seen in Costello syndrome.	false
+9152f3c6b85c47e67c6e4fb987cef162a6507b25	Although this indicates that the presence of a @PHENOTYPICFEATURE$ is not specific for Costello syndrome with HRAS mutation, it is noteworthy that the tumor histology differs from those commonly seen in @DISEASE$.	false
+3abdbca511c49f37a7a0d4f994225323204b870d	Although this indicates that the presence of a tumor is not specific for @DISEASE$ with HRAS mutation, it is noteworthy that the @PHENOTYPICFEATURE$ histology differs from those commonly seen in Costello syndrome.	false
+02f3ac3b68a7451685e195403304ff07aa292875	Although this indicates that the presence of a tumor is not specific for Costello syndrome with HRAS mutation, it is noteworthy that the @PHENOTYPICFEATURE$ histology differs from those commonly seen in @DISEASE$.	false
+6fd33246afaf25c894cbcd675558f94399d4cf5d	Individuals with @DISEASE$ had shorter stature than the other groups and were prone to have hand @PHENOTYPICFEATURE$.	false
+9822c04a1afe5e50b202fbb1d09070f53640bcca	Concerning "Five additional @DISEASE$ patients with rhabdomyosarcoma: proposal for a @PHENOTYPICFEATURE$ screening protocol".	false
+7efb72c7b865191b68fc59bee419d1c5fccdd99a	Crohn disease complicated by @DISEASE$ during therapy with @PHENOTYPICFEATURE$ necrosis factor-? inhibitor.	false
+617a37af18da0662cf7be55d354a13596e0e8391	There was @PHENOTYPICFEATURE$ enlargement on computed tomography performed to assess the therapeutic response, so paraneoplastic @DISEASE$ was considered.	false
+c766877f473f20dd9acf41c7c6c0baadb8afcf81	@DISEASE$ (AD) is a rare disorder of painful nodular subcutaneous fat accompanied by fatigue, difficulty with @PHENOTYPICFEATURE$, inflammation, increased fluid in adipose tissue (lipedema and lymphedema), and hyperalgesia.	false
+a409e118c17a2d2ebc89a354eedcc1ceb512202d	The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (@DISEASE$) and the more proximal region DGCR2 responsible for heart defects and @PHENOTYPICFEATURE$/aplasia.	false
+df9f3229b5699176e9c2352a0d5040e6f168ccc0	Sensory disturbances (hypoaesthesia in fingertips and tenderness) and @PHENOTYPICFEATURE$ (tremor, dystonia, muscle spasms, abnormal postures and inability in initiating of movement) were investigated in 80 patients with post-traumatic @DISEASE$ (RSD) of the upper extremity.	false
+434d4daab74639bbc0c1e5c3548cfd4789a497ac	@DISEASE$ (RSD) is composed of five major features: pain, swelling, autonomic dysregulation, @PHENOTYPICFEATURE$, and atrophy and dystrophy.	false
+5482f84ff691994c1f531990e43a3d9db3979bf6	Six patients, with vertebral @PHENOTYPICFEATURE$ and reflex sympathetic @DISEASE$ syndrome of the lower limbs, due to moderate diabetes, are presented.	false
+0da5ee00f2fb7d720693095de3b70d1170e9b108	TMS examinations also revealed that the nature of motor dysfunction in @DISEASE$ patients differs from that observed in patients with functional @PHENOTYPICFEATURE$, limb immobilization, or idiopathic dystonia.	false
+239eb99f89e0d19798e36509fe1ae46d998c1b5a	@DISEASE$ syndrome represents a group of symptoms involving pain and oedema of the affected extremity, with @PHENOTYPICFEATURE$, vegetative and vasomotor disturbances and focal osteoporosis development.	false
+9ed9083a39f4473f329dc0f7a7312acba24047b7	@DISEASE$ (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), @PHENOTYPICFEATURE$ (CHDs), and radial ray defects.	false
+d922199cc56d52cb9c7bf92f3d1c58e5a854909c	We report on a baby presenting with ectrodactyly, heart defects, and mild @PHENOTYPICFEATURE$, an association recognized as acro-cardio-facial syndrome (@DISEASE$).	false
+f212b76dd44924de85d90a255394008c65c3ae00	@DISEASE$ is characterized by diffuse symptoms such as bloating, abdominal pain, weight loss, anorexia, @PHENOTYPICFEATURE$, diarrhoea, vomiting and ascites.	false
+8df85b7fa01e2b1002cef273614d76ed746a9c61	Additionally, the imaging showed dextroversion of the heart, @PHENOTYPICFEATURE$ of the inferior vena cava, right atrium, and right ventricle, as well as a hypoplastic right lung, a collection of findings consistent with @DISEASE$ and not dextrocardia.	false
+981ac2d1400fbbc1538c15fa26eae75686930eee	Full investigation including angiography showed a large atrial septal defect with right heart @PHENOTYPICFEATURE$ and @DISEASE$.	false
+028d76e6345c11e552d75f13df5fc139bd112219	The presence of @PHENOTYPICFEATURE$ and EEG abnormalities should not be considered exclusion criteria for the diagnosis of @DISEASE$.	false
+ed21db6e1dac41010cab21dd1f5b7fce86d0bfad	The co-occurrence of @PHENOTYPICFEATURE$ and @DISEASE$ suggests that they are both due to the same underlying SGCE mutation.	false
+bc153fbda79dc7423bb7c78c55041a47d1405fbc	The family presented with choreic movements at rest, but other movements were seen; @DISEASE$, @PHENOTYPICFEATURE$, stuttering and tics-like movements.	false
+dadc13dc0b5839a5e419fac6821999caa90bda26	The clinical features were diverse, even within individual families, and comprised a combination of a movement disorder (chorea, @DISEASE$, or parkinsonism), @PHENOTYPICFEATURE$, epilepsy, psychosis, and dementia.	false
+839d9f149f62d991b23b28b5038f9e03e1f19bda	@PHENOTYPICFEATURE$ and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and @DISEASE$.	false
+c973c1302e733927b2fab52e359ae095a5cfa3d3	@PHENOTYPICFEATURE$ have been reported in two families with @DISEASE$ due to epsilon-sarcoglycan (SGCE) mutations.	false
+45744cedc4aee293c61d666ab6f70f3b29e2b95c	The spectrum of clinical presentations can be neuropsychiatric (apathy, lethargy, excessive somnolence), a movement disorder (@PHENOTYPICFEATURE$, tremor, chorea, parkinsonism, @DISEASE$), or both.	false
+dfd997479d5a4c4f8c039a25a521b94e9057d751	@PHENOTYPICFEATURE$ are rarely observed in @DISEASE$ patients with SGCE mutations, and may not be a part of the phenotype.	false
+3776f814dee0bf32b466cb3f2b5c81e4e8e4c747	A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, @DISEASE$, choreoathetosis, @PHENOTYPICFEATURE$, tremor, tic disorders and restless legs syndrome.	false
+aee06a6549b89dc8e7c9fa6df6eeac342a818060	A broad spectrum of movement disorders can manifest in mitochondrial diseases including @PHENOTYPICFEATURE$, Parkinsonism, @DISEASE$, choreoathetosis, spasticity, tremor, tic disorders and restless legs syndrome.	false
+d8c691ccf7ff155bf2c01dacf600a75c2bbd72bf	@DISEASE$ and @PHENOTYPICFEATURE$ in association with anti-glutamic acid decarboxylase autoimmunity.	false
+ce638bae49d64c4b03669819c05a4cfc950a7a4a	Case reports of two children with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+21c839bcf10f9f229129a5fb7e50894e41f1f801	Hypercalcemia accompanied by hypothalamic @PHENOTYPICFEATURE$, central diabetes inspidus and @DISEASE$.	false
+a8efe11406730b031d283cc444e6e5530886ed01	Patients with thyrotropin-secreting pituitary adenomas may present with mass effect, @PHENOTYPICFEATURE$, and/or @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+82dbcc49827ac8a2d277f9b33d415764d4f13970	@PHENOTYPICFEATURE$ and recurrent @DISEASE$.	false
+101733a6664be99f8d27ec3ae5e3a0d839641058	Calcium oxalate crystal formation in patients with @PHENOTYPICFEATURE$ and @DISEASE$ and related metabolic disturbances.	false
+9624942fbc8bd31bfcaac00403747c873bb2b9a2	@DISEASE$ is associated with @PHENOTYPICFEATURE$.	false
+c6f77f1ac92f9a24948512f7c8ae9e2001e7b63a	Mycoses may infiltrate endocrine organs and adversely affect their function or produce metabolic complications, such as hypopituitarism, @DISEASE$ or hypothyroidism, pancreatitis, @PHENOTYPICFEATURE$, hypogonadism, hypernatremia or hyponatremia, and hypercalcemia.	false
+947270cb95231654112cc1c5689da386c0eb0c9a	Mycoses may infiltrate endocrine organs and adversely affect their function or produce metabolic complications, such as @PHENOTYPICFEATURE$, @DISEASE$ or hypothyroidism, pancreatitis, hypoadrenalism, hypogonadism, hypernatremia or hyponatremia, and hypercalcemia.	false
+f23bcef66d31ab0830778af72839e13a79252313	Mutations in GPCRs have been associated with dwarfism, congenital @DISEASE$ or hypothyroidism, nephrogenic diabetes insipidus, obesity, resistance to TSH, LH, FSH and ACTH, Jansen's metaphyseal and Blomstrand's chondrodysplasia, autosomal dominant hypoparathyroidism, and neonatal severe @PHENOTYPICFEATURE$.	false
+bd03e29f1d3904a7ab346cf66e615f69f3dd0b9f	Mutations in GPCRs have been associated with dwarfism, congenital @DISEASE$ or hypothyroidism, nephrogenic diabetes insipidus, obesity, resistance to TSH, LH, FSH and ACTH, Jansen's metaphyseal and Blomstrand's chondrodysplasia, autosomal dominant @PHENOTYPICFEATURE$, and neonatal severe hyperparathyroidism.	false
+5697af8ccd31bcd8a0c42ab3ee3fa5f17465268c	Clinically, they may present with @DISEASE$, hypothyroidism, @PHENOTYPICFEATURE$, or visual loss.	false
+8af470a93b4d151cc7be04a75fe4370913646ad6	Women were excluded from this study if they suffered from any of the following conditions: chronic hypertension, hepatitis, acute fatty liver, liver cirrhosis, nephropathy, overt diabetes mellitus, connective tissue disease, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+ecb7ac78b29dc3f068123fea6fd95155000b55d1	Controversy persists regarding testing (and treating) for H. pylori infection in children with recurrent @PHENOTYPICFEATURE$, chronic @DISEASE$, and poor growth.	false
+87404fa54cae6bb1fcf00c6a028e42dae4071e98	@DISEASE$ (ITP), Crohn's disease, @PHENOTYPICFEATURE$, dermatomyositis, scleroderma, Addison's disease and hyperemesis gravidarum, HELLP syndrome.	false
+8bf9d8f4832a5a101d615e9f128c7ea7ba1eb8a7	Three patients had scleroderma as their main feature, one patient had @PHENOTYPICFEATURE$ C cirrhosis, and one had @DISEASE$.	false
+0f7583ddcb4fb16575ef093c2e3da4ec34b0a428	A 61-year-old woman with a 2-year medication-free history of @DISEASE$ was referred to our hospital complaining of right lower @PHENOTYPICFEATURE$.	false
+6f3990321c2041536b0a518c1f3c185d3951db97	Among these, the most promising indications would seem to be for rheumatoid polyarthritis and @PHENOTYPICFEATURE$, although some preliminary open studies point to an effect in Goujerot-Sj?gren's syndrome, neuropathies, auto-immune cytopenia, @DISEASE$, cryoagglutinins, blistering cutaneous affections...	false
+01e4f5f884421cf50907a37348a9a03d28ddb443	A 52-year-old woman with history of refractory @DISEASE$ had hypertension, seizure, and mild coronary artery disease and received rituximab; after 24 hours, she returned back with chest pain, @PHENOTYPICFEATURE$.	false
+13758b51b68e3e1d0157b01fbd33eb845f316208	We would like to present a rare case diagnosed as @DISEASE$, presenting with @PHENOTYPICFEATURE$ and paleness.	false
+efbdaeed28494b6f898be40da9e58fd1a0720367	We present the case of a 37-year-old woman with a history of @DISEASE$ who presented with refractory nausea, vomiting, and @PHENOTYPICFEATURE$.	false
+4ad588d9d8a4052737af8165bab56de717a34be8	We present the case of a 37-year-old woman with a history of @DISEASE$ who presented with refractory nausea, @PHENOTYPICFEATURE$, and abdominal pain.	false
+e701bd922400c13d062254e8fcb21b3888b664ca	Overall, 52 patients with lymphoproliferative disorders, 2 patients with @PHENOTYPICFEATURE$, 1 patient with rheumatoid arthritis, 1 patient with an idiopathic autoimmune pancytopenia, and 1 patient with @DISEASE$ developed PML after treatment with rituximab and other agents.	false
+f8c7b4cc3249c355000a8317aa55c0b14b0e82b0	There were no associations between @PHENOTYPICFEATURE$ (BMI ? 30 kg/m2) and risk of @DISEASE$ disease, stricturing disease, or surgery.	false
+5c3062bb25b0d55c8b860d15a0cc6617a5dd59ee	@DISEASE$-partum cardiomyopathy (PPCM) is a clinical @PHENOTYPICFEATURE$ that usually develops during the final stage of pregnancy or the first months following delivery.	false
+7071ceac725be4d15c5e698d9c8322c0f38a9d23	Assessment of speech perception and communication skills in adolescents with cochlear implants for pre- and @DISEASE$-lingual @PHENOTYPICFEATURE$.	false
+60295f1cb09411c0f54802e979355a483b93d9af	This study aimed to assess speech perception and communication skills in adolescents between ages 8 and 18 that received cochlear implants for pre- and @DISEASE$-lingual @PHENOTYPICFEATURE$.	false
+974aa60e63e8c4ed7436caa40cf0188a6fbdc163	The girl has woolly and sparse hair, absence of lateral eyebrows, dry skin, brittle nails, hypopigmented patches, frontal bossing, hearing loss, hypertrophic @DISEASE$, @PHENOTYPICFEATURE$, and mild developmental delay.	false
+8ccfae79a9fbf8d70f9c0ae65b53d3f0b04a72b1	GM and KM immunoglobulin (Ig) allotypes and their interactions with HLA antigens have been analyzed in various autoimmune diseases: multiple sclerosis, rheumatoid arthritis, insulin-dependent diabetes mellitus (IDDM), @PHENOTYPICFEATURE$, coeliac disease, Crohn's disease, Graves' disease, atrophic thyroiditis, Hashimoto's thyroiditis, myasthenia gravis, chronic active hepatitis, alopecia areata, uveitis, vitiligo, Turner's syndrome, glomerular nephritis, Berger's disease and idiopathic @DISEASE$.	false
+de7fa2cee99dcf59f2e3daaa5ab5b517ec4ba770	Diagnosis should be in the mind of clinician when in a diabetic patients are associated: central @PHENOTYPICFEATURE$, @DISEASE$ and chronic arthropathy.	false
+4848e51e95f6d4388db7a44c22266b3bef7ffbec	@DISEASE$ (DCM), clinically characterized by contractile dysfunction and ventricular chamber enlargement, is a @PHENOTYPICFEATURE$ heart disease leading to progressive systolic heart failure and sudden cardiac death.	false
+689602a98070fef1ac7e6a54c4eed527c626f5fc	All the cases had cardiovascular system features (dyspnoea, oedema, palpitation, angina, etc. but without hypertension), three had central nervous system features (headache, @PHENOTYPICFEATURE$, convulsion etc.) and all had general systemic features like weight loss, malaise, fever, arthralgia etc. Electrocardiography, chest X-ray and echocardiographic findings were consistent with @DISEASE$.	false
+192c547e0421e8faea31d5bab1b2d8b093b1215b	@DISEASE$ is associated with various @PHENOTYPICFEATURE$, such as decreases in the activity and subsets of suppressor T cells and in the activity of natural killer cells, suggesting the involvement of immunological mechanisms in the pathogenesis of this disease.	false
+de2a35c2ff07c9600acccaa8582931369090c216	We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, @PHENOTYPICFEATURE$, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, @DISEASE$, and cardiac arrest.	false
+64c67aa3425a29ccbecd56525a47869ecaa555bd	A 69-year-old man who had previously visited a hot spring was admitted to our hospital with severe pneumonia and a 48-year-old man with @DISEASE$ as an underlying disease was also hospitalized because of heart failure and @PHENOTYPICFEATURE$.	false
+ff5d595f2c638aa9d2395b20b1ddc5d5c46d36df	Among the 30 cases, 25 patients had seizures and skin manifestations; 24 had cerebral tubercles; 10 had heart involvement (9 rhabdomyoma, 1 @DISEASE$); 4 had kidney involvement (3 @PHENOTYPICFEATURE$ disease, 1 renal hamartoma); and 3 had retinal astrocytic hamartoma.	false
+25a49d501dc8d1fed8798b0adc2907c60e7c6b2a	Our understanding of the underlying pathobiology in these disorders based on physiologic and cell biologic studies is variable--we suspect that the V2 vasopressin receptor is defective in nephrogenic diabetes insipidus; we know that the glomerular basement membrane in @DISEASE$ is abnormal; we suspect that a @PHENOTYPICFEATURE$ suppressor gene is defective in Wilms tumor; and we lack a unifying hypothesis regarding cystic degeneration of the kidney.	false
+b38d96c8f609e7895009ead024da4a79475a4fd9	A significant increase in activity was observed in pyelonephritis, @DISEASE$, Wilms' @PHENOTYPICFEATURE$ and glomerulopathies.	false
+41c91561ae2a6624ed9560770067dc33b3b0b1b5	Moreover, the single-chain technology is foundational for generating trimeric NC1 domains of other ?-chain compositions to investigate the ?121, ?345, and ?565 collagen IV scaffolds and to develop therapies for managing @DISEASE$, Goodpasture's disease, and cancerous @PHENOTYPICFEATURE$ growth.	false
+1eb95be16f5bd81fb3237732d55bb2cd7d8135b9	Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in @DISEASE$ associated with smooth muscle @PHENOTYPICFEATURE$.	false
+fa4ccf77c67ea92bcbe2db8d7c25de0ad41ea968	Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in @DISEASE$ and in Alport syndrome associated with smooth muscle @PHENOTYPICFEATURE$.	false
+85fd547c44d22e111e1d49588b09c2db1a78bc43	RAGE involvement has been documented in the pathogenesis of a number of neurodegenerative diseases such amyotrophic lateral sclerosis (ALS), Alzheimer's, Parkinson's, Huntington's, Creutzfeld-Jakob' diseases and various neurodegenerative conditions such as diabetic neuropathy, @DISEASE$, Charcot neuroarthropathy and @PHENOTYPICFEATURE$ neuropathy.	false
+b5a1fba57546a0dc09d17d8d8dd8a3e0ea507fec	RAGE, a member of the multiligand cell surface immunoglobulin family, has been implicated in numerous pathological conditions - from diabetes and cardiovascular diseases to @PHENOTYPICFEATURE$ and neurodegenerative disorders, such as Alzheimer's disease, @DISEASE$, diabetic neuropathy, Parkinson's disease, and Huntington's disease.	false
+d4b93cfe284c184aa9bc5d528f2fec279b75bf77	Unusual causes of LT include metabolic diseases like Wilson's disease, @DISEASE$ and hyperoxaluria type I, polycystic kidney and liver disease, and some @PHENOTYPICFEATURE$ (epithelioid hemangioendothelioma and neuroendocrine tumors).	false
+aa1904064b2eca980189c3e96d71a160210d0883	Bone scans displaying low diphosphonates uptake in the shafts of the long bones point to greatly suppressed skeletal metabolism of the cortical bone in the patients with CO @PHENOTYPICFEATURE$ @DISEASE$ treated with GH.	false
+16d27ef083f224c8d52b41e66774efb08c059ab8	However, control children reached expertise that was similar to control adults by 8-12?years; whereas, adults with @PHENOTYPICFEATURE$ @DISEASE$ reached this level of expertise, particularly with less typical gender faces.	false
+a9a5fef5d1f88abff799a0bf2a02a500c6991399	Linear @DISEASE$ sebaceous syndrome (LNSS) is a multisystem disorder that includes nevus sebaceous and central nervous system, ocular and @PHENOTYPICFEATURE$.	false
+cc6e637214fc2f4c86972a0f4a4d85cf697bca0f	@PHENOTYPICFEATURE$ @DISEASE$ occurred.	false
+4cad47835d2d8a21898f39277017a0f8af31e5ab	It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell @DISEASE$ carcinomas and @PHENOTYPICFEATURE$.	false
+6a2f6f4890afe31dd50f9049db51ec4348648293	Mild cognitive impairment is often a precursor to dementia due to Alzheimer's disease, but many patients with mild cognitive impairment @DISEASE$ develop @PHENOTYPICFEATURE$.	false
+59b7ca1e369f98ba12a63a2cd3768e1f7b8a33e3	Mild brain stem symptoms can often be demonstrated during the attack, but major @PHENOTYPICFEATURE$ @DISEASE$ occur.	false
+bf14e81c303d6ec4dcdbeaddf678556a05469ab1	Normocalcaemia was maintained for 17 days and severe @PHENOTYPICFEATURE$ @DISEASE$ recurred.	false
+48017c84e1f77545409476c0de17bc18a44a4b2c	It is characterized by odontogenic keratocysts in the jaw, multiple basal cell @DISEASE$ carcinomas and @PHENOTYPICFEATURE$.	false
+c774ac90e264fb6785616c1b527cdf5116cf9972	Gorlin-Goltz syndrome?(GGS) is an infrequent?multisystemic disease with an autosomal dominant inherited disorder characterized by the presence of multiple keratocystic odontogenic tumors (KCOT) in the jaws, multiple basal cell @DISEASE$ carcinomas, and @PHENOTYPICFEATURE$.	false
+51d6633e3b20f2ff520e93dd32493d1f38aa0244	He then developed features of @DISEASE$ as well as metabolic acidosis, hyponatremia and @PHENOTYPICFEATURE$.	false
+924269be6da94ee41e804c45d2a0b169ff489986	Various renal syndromes were reported after the use of medicinal plants, including tubular necrosis, acute interstitial nephritis, @DISEASE$, hypokalemia or @PHENOTYPICFEATURE$, hypertension, papillary necrosis, chronic interstitial nephritis, nephrolithiasis, urinary retention, and cancer of the urinary tract.	false
+90af45f2843a741d4a1f2b8f4bd48b85c1542b8e	@DISEASE$ @PHENOTYPICFEATURE$: Lassa virus in cerebrospinal fluid but not in serum.	false
+10421fdc10ab61a4e00cd9cc61ae6ee478ef863f	The remarkable differential expression of thrombomodulin, a key regulator of inflammation and coagulation, suggests its involvement with @PHENOTYPICFEATURE$ and mortality in @DISEASE$ disease.	false
+6070021a91517a3707f4684902a8347a672d2f2d	Whereas @DISEASE$ @PHENOTYPICFEATURE$ and encephalitis are well described in the literature, there is paucity of data on Lassa virus meningitis.	false
+1589360e11ac14bb85a0f9fec6004c9ce87e971d	@DISEASE$ is rarely secondary to lymphoma or @PHENOTYPICFEATURE$ and it is extremely uncommon as the initial presentation of malignancy.	false
+b954ede3d05650e15e133b6ae792f13fa9cb85e5	We report the case of a 20-year-old female who presented with @DISEASE$ and associated monocular @PHENOTYPICFEATURE$.	false
+efcb9bd5b2549b3e96c7b3ca0f1bcbd955caf1dd	Bodily @PHENOTYPICFEATURE$ scores were lower in recipients with prior @DISEASE$ than those with hepatic carcinoma or hepatic cirrhosis (P = .032).	false
+f6f6f965b056cf61e02c00c1bc5ab4c1ed21ab5d	Encapsulating peritoneal sclerosis (@DISEASE$), a rare but serious complication of long-term PD, is characterized by nausea, @PHENOTYPICFEATURE$, weight loss, anorexia, and constipation.	false
+dcadaf438e83454dda218930ca373f5bb6e6681e	Both EPS and the newly found component FucNAc in @DISEASE$ from S. aquatilis extend the possible components of cyanobacterial EPS and the knowledge of @PHENOTYPICFEATURE$ of cyanobacterial metabolites.	false
+c794777253352363d01c79b2e02fa2ecb0f03d11	Both @DISEASE$ and the newly found component FucNAc in EPS from S. aquatilis extend the possible components of cyanobacterial EPS and the knowledge of @PHENOTYPICFEATURE$ of cyanobacterial metabolites.	false
+c1aa11b8636a7cbedc965e42dc34e6d62750859f	Based on these results, we suggest that there are significant changes in the microbial population in @DISEASE$, urine and seminal fluid of subjects with @PHENOTYPICFEATURE$ and BPH, indicating a possible role for these bacteria in these two conditions.	false
+0db36666ea70c2dec761ca10bc13595cc7d007a3	In order to understand the possible association between various bacteria and @PHENOTYPICFEATURE$, quantitative real-time PCR assay was performed to quantify the amount of strains of bacteria in urine, @DISEASE$ and seminal fluid.	false
+9ffa5d30165b43bcd09de13251387f69cc520826	We describe a patient with four types of tardive and persistent @DISEASE$ such as dystonia, dyskinesia, @PHENOTYPICFEATURE$ and myoclonus, induced by haloperidol.	false
+6f046359a82e76d606ca8589e1cb9d87c8268c88	@DISEASE$ in AD are associated with severe @PHENOTYPICFEATURE$ in attention and visuospatial function.	false
+3dd207357ee990078836bca7965a0965ff6f8378	We report a case of @DISEASE$ presented with blood-tinged effluents and @PHENOTYPICFEATURE$.	false
+0a94e0f82d4043c44fa25a47742edceab3cc3d2c	Mild cognitive impairment (MCI) may be accompanied by extra pyramidal signs (@DISEASE$), which are related to the severity and type of @PHENOTYPICFEATURE$.	false
+a1117191d1e6d2fbc06958a9cf90df65c400b63c	Extrapyramidal signs (@DISEASE$) are common in patients with mild @PHENOTYPICFEATURE$ (MCI).	false
+253ca1feffe29e30ac5b9654bfea641eccb66f99	The severity of @PHENOTYPICFEATURE$ was associated with BFI, as well as the dementia severity in the @DISEASE$ group.	false
+6e39ba64c72555c4d2666d128b4f8f47eb83751b	@DISEASE$ infection was very common and virulent in Hadoti region during August to November 2017 and many patients presented with @PHENOTYPICFEATURE$.	false
+92c37d3ae1c8aab22e01b119b117eacdaded5687	There are reported cases of opsoclonus myoclonus @PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+6f0fded8cbaa51aacf5efb467d30b80d81c05d3a	@DISEASE$ @PHENOTYPICFEATURE$ in children in Northern India: clinical features and comparison with non dengue.	false
+fe7f71a7c798c2fd0273ba32e051abf6992cf6b1	@DISEASE$ is increasingly presenting with atypical presentation like splenomegaly, @PHENOTYPICFEATURE$, bleeding manifestations and upper RTI.	false
+79ab6a771411bad3eeed9f4fd021d9b243258192	@DISEASE$ @PHENOTYPICFEATURE$ patients usually present with altered sensorium, elevated lab parameters and high antibody titres at the time of admission.	false
+2656dc55ee3053d62b245a88ddaa85bc9b0d00fd	@DISEASE$ @PHENOTYPICFEATURE$ is usually secondary to multisystem derangement such as shock, hepatitis, coagulopathy and concurrent bacterial infection and is relatively common.	false
+bac1a31de746ad6a9f5ce84e037085711c9ddb34	We describe MRI findings in children with neurological involvement including @DISEASE$ @PHENOTYPICFEATURE$, acute hypoxic injury and dengue encephalitis.	false
+8177a82a6bf6f4bc85f23428742b3b4cb0dc0f8d	Acute pancreatitis and @PHENOTYPICFEATURE$ are rare manifestations of @DISEASE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+b7685173a0ac2905363b771e1745b54664f2e6c2	Mice lacking arf and p53 @PHENOTYPICFEATURE$ suppressor genes as well as @DISEASE$ pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression.	false
+e0b0f68da947885aa11c8f7168708c670f636d85	Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with @DISEASE$, severe psychomotor retardation and @PHENOTYPICFEATURE$ epilepsy.	false
+0baa46b0e655bce6cadacc310f67439e7628d6a9	Collaboration between the @DISEASE$ and a state @PHENOTYPICFEATURE$ registry is likely to improve the case ascertainment achieved by either agency alone.	false
+6c3b6db2c117bc4dc17bffdd49c2adefba4b0d12	Individuals identified by @DISEASE$ or tribal linkages were different from those reported to be AI/AN in terms of stage at diagnosis, @PHENOTYPICFEATURE$ confirmation, and characteristics of the county of diagnosis, including contract health services availability, tribal health services availability, and proportion of AI/AN residents.	false
+11e93e89739530909f599d11ff46df44f5c0bb7c	The hyperthermia with @DISEASE$ may also be applicable to benign intracranial @PHENOTYPICFEATURE$ and neoplasms in other part of body as well.	false
+0aaca2655ac3b4f644315a64b488aa40dfb158ba	The hyperthermia with @DISEASE$ may also be applicable to benign intracranial tumors and @PHENOTYPICFEATURE$ in other part of body as well.	false
+a10d7296e246d81eff4ca951732f78835f93c806	On MRA, blood vessels adjacent to the @PHENOTYPICFEATURE$ were identified and characterized for 9 of 14 dogs with meningioma and all 5 dogs with @DISEASE$.	false
+c72863a7b9dee4269102bd753e8401aba2683429	To evaluate the effect of this hyperthermia, a brain tumor model was produced by innoculation of VX2 @PHENOTYPICFEATURE$ cells and treated either by hyperthermia with @DISEASE$ alone, chemotherapy with ACNU alone, or with a combination of both.	false
+63e77eb006cc57de0d50fadaafdc0bf48fb0889f	Expression of RECK and vascular endothelial growth factor (VEGF) in @PHENOTYPICFEATURE$ tissues was assessed by immunohistochemical staining (@DISEASE$).	false
+ab573f8efc17474a7ed77a4aaa22f088d62ef5df	This color segmentation algorithm was used to find @PHENOTYPICFEATURE$ borders in six different color spaces including the original red, green, and blue (RGB) color space of the digitized image, the intensity/hue/saturation (@DISEASE$) transform, the spherical transform, chromaticity coordinates, the CIE transform and the uniform color transform designated CIE-LUV.	false
+78362da5c10130ee6a49e7c56d59c60b0e673a6f	Cell apoptosis and proliferation in @PHENOTYPICFEATURE$ from CRC xenograft mice was evaluated via immunohistochemical staining (@DISEASE$) for TUNEL and PCNA, and the intratumoral microvessel density (MVD) was examined by using IHS for the endothelial cell-specific marker CD31.	false
+175173a2fe8afa26f69784c08f7581195511440c	ATF3 was immunolocalized to the zona glomerulosa of non-pathological adrenal glands and adrenal glands with @DISEASE$, and diffusely detected in the @PHENOTYPICFEATURE$ cells of APA and CPA.	false
+aad796b539007fa1536bcf06ac1a566aa0375144	@DISEASE$ causes hemolytic anemia, poor growth, and @PHENOTYPICFEATURE$ during infancy.	false
+fc11f1eef03355b26d0e7d71032b9794d2cec9b1	All fulfilled the following criteria: 1. Glasgow Coma Score below 9, 2. Progressive @PHENOTYPICFEATURE$ and/or progressive @DISEASE$ and/or 3. Other signs of acute life risk correlating with an intracranial haematoma.	false
+1bf97ee87083dd537e63a3988c3486f78baafd46	In comparison with patients with moderate @PHENOTYPICFEATURE$, patients with good recovery had a higher initial GCS score (p = 0.01), lower incidence of @DISEASE$ at admission (p = 0.048), and a shorter ICU stay (p < 0.001) and total hospital stay (p < 0.001).	false
+cf1885afd2b49743963d3a58f30a5a8f24741f48	A 5-month-old male neutered domestic shorthair cat was evaluated for spinal pain, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1e5fb5e4d0d93411158f64dc10f80d777d8f5e96	@PHENOTYPICFEATURE$ and @DISEASE$ are the two common signs of a crucial state of neurological dysfunction.	false
+f4522841799a2f8b52459abfca5ff1d71ef07844	We report on a 27-year-old female patient who developed a progressive neurological disorder (@DISEASE$, @PHENOTYPICFEATURE$ and facial nerve paresis) after participating in a marathon race.	false
+0a895e7f1f91d8665f91983a36d4307df5bb624c	Administration of an additional vial of antivenom 72 hr after envenomation quickly corrected the weakness and muscle fasciculations, whereas the @DISEASE$ and mild @PHENOTYPICFEATURE$ persisted for another 24 hr.	false
+88173c83f0744c08b9fcc3fdef1ef4b6678e384c	A pharmacological study was performed in the involved pupils to demonstrate the site of lesion in a patient with Fisher's syndrome who showed marked ptosis, complete external ophthalmoplegia, pupillary involvement with @DISEASE$, facial paresis, @PHENOTYPICFEATURE$, areflexia, and albuminocytological dissociation in the cerebrospinal fluid.	false
+b222f3bcef041e26f954d06134e4f0fc9ceb1ecc	[Intense generalized amyotrophia, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+35acd04725edae9020a93e99dff163f8da54ce3b	In this case, apart from the usual alterations associated with the R-K-@DISEASE$, such as aplasia of the M?llerian ducts, renal agenesis, ectopic kidney and anomalies of vertebral column, ribs and hips, rare skeletal, unilateral abnormalities of the left hand and foot were present, such as @PHENOTYPICFEATURE$.	false
+acf139c57d7f747072af2b451ee7bd80179e03a1	The 67 recipients had the following indications: biliary atresia (n = 17), Wilson's disease (n = 15), hepatitis B-related liver cirrhosis (n = 14), hepatitis C-related liver cirrhosis (n = 4), primary biliary cirrhosis (n = 4), hepatitis B-related liver cirrhosis with hepatoma (n = 3), hepatitis C-related liver cirrhosis with hepatoma (n = 2), @DISEASE$ (n = 2), neonatal @PHENOTYPICFEATURE$ (n = 1), choledochus cyst (n = 1), autoimmune cirrhosis (n = 1), neuroendocrine tumor (n = 1), and hemangioendothelioma (n = 1).	false
+9d65e6d6ea391e580e701b99bea623c0af73b4b8	We report a case of @DISEASE$ in association with large solitary FNH in a 22-year-old man who was referred to our institution with sudden intermittent right upper quadrant abdominal pain, @PHENOTYPICFEATURE$, diarrhea with pale stool, decreased appetite, dark urine, and abdominal distention for 15 days.	false
+30b71e2b853da92f8b46f1f506e192d6293c88b8	In a very small minority of patients, nausea, @PHENOTYPICFEATURE$, abdominal pain, distension, palpable mass, obstructive jaundice, bleeding, and signs and symptoms of @DISEASE$ may develop due to compression of bile duct, hepatic vein, portal vein, and adjacent organs.	false
+459c338fb347073d8c4bffc02e95e030db379e5d	Nausea/@PHENOTYPICFEATURE$, splenomegaly, low serum cholinesterase, and high alkaline phosphatase were associated with adverse outcomes after orthotopic liver transplant for @DISEASE$.	false
+c8888d9b0399f2c1fc4aef054601fb74c5a97624	Besides, attention should be paid to distinguish Perrault syndrome from @DISEASE$ and hereditary @PHENOTYPICFEATURE$.	false
+e5d8c20058abfe8b1781c17ecc7aa70fd655d54f	In contrast, typical clinical and radiological features were observed more often in extra-articular @DISEASE$, and only 1 child showed @PHENOTYPICFEATURE$ of the tibia, which did not have clinical significance.	false
+ecce21abfea859e5251d543e328da81c1ccbe28f	A boy with a lipid storage disease characterized by @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family.	false
+d3244cfabfcba44879f3e6d2bf5ec018fc05e342	Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, @DISEASE$ (a complex phenotype including myopathy, hyposplenism, @PHENOTYPICFEATURE$ and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome.	false
+090fff47efc330f18ad89a59ea82c0bf49a04123	@DISEASE$ is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild @PHENOTYPICFEATURE$, muscle fatigue, asplenia, and ichthyosis.	false
+ea3c67a2530f8878523c3b2159969c81c7f26d70	@DISEASE$ is a rare chondrodysplasia characterized by @PHENOTYPICFEATURE$, joint laxity, and specific radiographic findings.	false
+e9f99c5fcae2b61fabc908faa847d596f49d13ce	@DISEASE$ is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, @PHENOTYPICFEATURE$, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal.	false
+3e95e3f2cb9430445080c0204f69bd8de900483a	@DISEASE$ is a rare autosomal recessive chondrodysplasia characterised by @PHENOTYPICFEATURE$, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies consisting of phalangeal dislocations and an extra ossification centre distal to the second metacarpal.	false
+3fa9fda985311de8f36a769b4d55d88302ed432f	@DISEASE$ (DD) is characterized by antenatal and postnatal @PHENOTYPICFEATURE$, multiple dislocations, and advanced carpal ossification.	false
+fc009fa94c495063f844f320631d7af1439dd8ac	@DISEASE$ is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and @PHENOTYPICFEATURE$.	false
+f63a8f171255e109cc23ef4bad213a2965d7d34b	@DISEASE$ is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic @PHENOTYPICFEATURE$, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism.	false
+f47afc890d507754fac5c6cfe5efabb92722035c	@PHENOTYPICFEATURE$ in the present disorder does not reach the degree of @DISEASE$.	false
+4dcb6988e534f82bc4ace612cb25660f3bdcdc4d	The diagnosis of @DISEASE$ was based on the association of specific facial alterations, markedly @PHENOTYPICFEATURE$ of prenatal onset, joint laxity, "Swedish key" appearance of the proximal femur, and advanced carpal and tarsal bone age.	false
+33b37f03f7ad923d7527545d0e92c39ae51cfe24	Two of the three children had skeletal anomalies resembling @DISEASE$: short stature, brachydactyly, @PHENOTYPICFEATURE$, and intellectual disability.	false
+fb46e53456fc33f2d6fe394754d70a19cc5b67c7	Two of the three children had skeletal anomalies resembling @DISEASE$: @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, and intellectual disability.	false
+83a4180afad790ebdd757d92613caf265a9b845d	@DISEASE$ is a severe condition characterized by @PHENOTYPICFEATURE$, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.	false
+ce680a51eaf6364cc1e9bdb404560f2e9bbed78b	@DISEASE$ (DD) is a recessively inherited condition characterised by @PHENOTYPICFEATURE$, generalised skeletal dysplasia and advanced bone maturation.	false
+4885a5a559095e9669b9969b747c5e93c5cccb8c	Desbuquois dysplasia (@DISEASE$) is a severe condition characterized by @PHENOTYPICFEATURE$, joint laxity, and advanced carpal ossification.	false
+cc473ee359dc804b021c90405c360fe7c5598b2e	@DISEASE$ (DBQD) is a severe condition characterized by @PHENOTYPICFEATURE$, joint laxity, and advanced carpal ossification.	false
+28711deb9a88ba7bd601fa7a29ed102cc72f481f	[Apropos of a case of @DISEASE$ with hypoproteinemia and @PHENOTYPICFEATURE$].	false
+5f0984855029baeedab4bae540d5a0e29c45d677	Giant hypertrophy of the gastric mucosa, hypoproteinemia and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+d4ac4223a81edf8cb8c31d7eab3299fbaeb953cc	A patient with exocrine pancreatic insufficiency and hypoalbuminemic @PHENOTYPICFEATURE$ was shown also to have a protein-losing gastropathy secondary to @DISEASE$ (M?n?trier's disease).	false
+f898776e5b4c48639ee4e3b5373aa0de3fb673c5	[@DISEASE$ and @PHENOTYPICFEATURE$ syndrome (author's transl)].	false
+02d5c70998e8ee2cad276f60d1f902cddf0ba565	It is characterized by @DISEASE$, protein-losing enteropathy, hypoproteinemia and @PHENOTYPICFEATURE$.	false
+c67cf7a8faf758c27376953394ec360b764418a8	M?n?trier's disease is a type of @DISEASE$, a rare, acquired premalignant disorder of the stomach accompanied by debilitating symptoms such as nausea and vomiting, anorexia, @PHENOTYPICFEATURE$, epigastric pain, and weight loss.	false
+d91f61abecae5e4139ebdf5e7c5668cd0a640855	Agreement was reached on the recognition of five new tumor entities: tubulocystic renal cell carcinoma (RCC), acquired cystic kidney disease-associated RCC, clear cell (tubulo) papillary RCC, @PHENOTYPICFEATURE$ transcription factor family RCC, in particular t(6;11) RCC and @DISEASE$-associated RCC.	false
+2b9b91ee553172072e0026ac3bf7ad7cf821d076	This classification included the newly established entities tubulocystic renal cell carcinoma (RCC)), acquired cystic disease-associated RCC, clear cell (tubulo) papillary RCC, @PHENOTYPICFEATURE$ transcription factor family translocation RCC and @DISEASE$ RCC syndrome-associated RCC.	false
+7dd8f2c125ca5799c2dd40186717a4a0e03357c3	The following tumors are in the differential diagnosis of oncocytic renal cell neoplasm: oncocytoma, chromophobe renal cell carcinoma (RCC), hybrid tumor, tubulocystic carcinoma, papillary RCC, clear cell RCC with predominant eosinophilic cell morphology, follicular thyroid-like RCC, @DISEASE$-associated RCC, acquired cystic disease-associated RCC, rhabdoid RCC, @PHENOTYPICFEATURE$ transcription factor translocation RCC, epithelioid angiomyolipoma, and unclassified RCC.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+7a73845aed7cda5dac1820afa37f42440696d1c4	[Symmetric @PHENOTYPICFEATURE$ and @DISEASE$].	false
+9e78c679a43a9f8c704f7c19b6811445a7fc5c97	It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the @PHENOTYPICFEATURE$ of patients with @DISEASE$.	false
+7af6da5142ed92e85f65e7ab2d326ca64935a363	The combined treatment significantly inhibited the growth of @DISEASE$ @PHENOTYPICFEATURE$ xenografts with respect to single treatments.	false
+31dd404ae5f7fb6a225ef96cda6483b081e6debe	Four cell lines were derived from @DISEASE$ @PHENOTYPICFEATURE$.	false
+49c47fe7c132d28d2a79f3209e330b242cf1856f	Furthermore, PP121 is effective at suppressing @DISEASE$ @PHENOTYPICFEATURE$ growth in vivo.	false
+0cd3a7079b143ae55297e62aab1c7ca4d7248171	PD-1/PD-L1 pathway proteins are highly expressed in @DISEASE$ @PHENOTYPICFEATURE$ samples and appear to represent predictive markers of PFS and OS in multimodality-treated ATC patients.	false
+662f1ae461287d6904a9c0c97e9a6535836d134f	PD-1/PD-L1 pathway proteins are highly expressed in ATC @PHENOTYPICFEATURE$ samples and appear to represent predictive markers of PFS and OS in multimodality-treated @DISEASE$ patients.	false
+1c9123c9a65ac09aa79d4a8c1ed4cbf5ac85824e	ATC cell lines and primary @DISEASE$ @PHENOTYPICFEATURE$ samples were evaluated.	false
+08cf1fafcd816b25d6b6d8bcd713e58b8c170b98	Among 15 long-term survivors, nine patients with ATC arising from DTC had @DISEASE$ @PHENOTYPICFEATURE$ portion less than 1?cm.	false
+9775e02662ff9fc88925e99c5347d6d2d9d07f4b	Among 15 long-term survivors, nine patients with @DISEASE$ arising from DTC had ATC @PHENOTYPICFEATURE$ portion less than 1?cm.	false
+5444775acfac943c9d6f22fb662c16afdf9212f3	Another five patients with @DISEASE$ without coexistent DTC had relatively small-sized @PHENOTYPICFEATURE$ (1?0-4?0?cm).	false
+6086d54e05644393abe4b432d0a444446bffb5c8	Furthermore, lovastatin treatment significantly enhanced the effects of dl1520 against @DISEASE$ @PHENOTYPICFEATURE$ xenografts.	false
+a0ea682855aae89e381d4dda217fe02c61b94fa1	Only three administrations of AZD1152 significantly reduced the growth of @DISEASE$ @PHENOTYPICFEATURE$ xenogratfs.	false
+a6132a2cd813c1bd934258693b2f21e846415f40	Long-term survival is possible for @DISEASE$ patients less than 60 years old and with small localized @PHENOTYPICFEATURE$.	false
+0ba3b322e3bdda21bba38f551055bbb4bc08d549	@DISEASE$ should be included in the differential diagnosis of infants with cutaneous @PHENOTYPICFEATURE$ fibrotic lesions to avoid functional and aesthetic sequelae and to allow prompt therapy.	false
+c398da75d3aa406efdc1e1e1b3a50206f9b2276b	Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like ? thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus @PHENOTYPICFEATURE$, Rubinstein-Taybi syndrome, @DISEASE$, Sotos syndrome, and facioescapulohumeral syndrome, among others.	false
+0ae94e8059e4767da51415351ef571b7d8a42e3e	These features include pruritus associated with high concentrations of cutaneous neurofibromas, hyperpigmentation overlying plexiform neurofibromas, two levels of hyperpigmentation in some CLS, @PHENOTYPICFEATURE$ in surgical scars through @DISEASE$, and areolar neurofibromas in postpubertal females.	false
+03fc274af206171b7d49654fcf5a20174826dcc5	These features include pruritus associated with high concentrations of cutaneous neurofibromas, hyperpigmentation overlying plexiform neurofibromas, two levels of hyperpigmentation in some @DISEASE$, @PHENOTYPICFEATURE$ in surgical scars through CLS, and areolar neurofibromas in postpubertal females.	false
+2b883415dbb088d9be4e46da171165d48a25bf8d	A detailed study of these motility patterns shows exaggerated oesophageal contractions without features specific to @DISEASE$ or localised oesophageal spasm, and that these features are reversed by surgical enucleation of the @PHENOTYPICFEATURE$.	false
+9e1b60c0101f714c08943605fa3e30f95e045e19	One patient had associated @DISEASE$, for which a cardiomyotomy with Toupet fundoplication was also performed, and another patient underwent an esophagectomy for a large @PHENOTYPICFEATURE$.	false
+873bf21cfcc01d5a8968e79020dc5b6c8b4b7bda	At present, innovative techniques for submucosal endoscopy in different esophageal diseases include peroral endoscopic myotomy (POEM) for @DISEASE$ and related motility disorders, submucosal tunneling endoscopic resection (STER) for submucosal @PHENOTYPICFEATURE$ arising from the muscularis propria, and endoscopic submucosal tunneling dissection (ESTD) for superficial esophageal neoplastic lesions.	false
+7d7d812e9414eef64cc09cb9326019927e99ed3d	Genetic variation in the lymphotoxin-? (LTA)/@PHENOTYPICFEATURE$ necrosis factor-? (TNF?) locus as a risk factor for @DISEASE$.	false
+769d47baca66b2e0e69c7d21a1653031222090a7	In the evaluation of patients with the achalasic syndrome, a @PHENOTYPICFEATURE$-associated functional and organic disorder mimicking @DISEASE$ in all respects has to be considered.	false
+50bef3906f8b43d27ddf8556dd10d925b215a3e2	We report a 4-year-old girl with characteristic features of the Langer-Giedion syndrome (@DISEASE$) who also had submucous @PHENOTYPICFEATURE$.	false
+7bf25631e9e27ebab9acdaf490107af58c7370ab	We tested BSC4090 as a potential diagnostic marker of prodromal and early AD using olfactory mucosa biopsies from 12 individuals with @DISEASE$ with mild @PHENOTYPICFEATURE$ (MCI), and 10 cognitively normal (CN) controls.	false
+b2b377155fce14a1afbe693018026c8790ec2534	@DISEASE$ preceding a carcinoid @PHENOTYPICFEATURE$ and multiple myeloma.	false
+dda253d51af6b42ce04b7cb6f29d6dbcc89bc9f0	Lingual leiomyomatous @PHENOTYPICFEATURE$ with bifid tip and @DISEASE$ in a patient without oral-facial-digital syndrome: a case report and literature review.	false
+e2f46d37c4f045c43431e170bf4feacc057b980b	The clinical significance of @DISEASE$ is varied; rarely symptomatic to a host of problems including infant feeding difficulties, @PHENOTYPICFEATURE$, malocclusions, and others.	false
+770e3e54d02399588e04c7af6af6cfabfad598a8	The @DISEASE$: ionic basis and @PHENOTYPICFEATURE$ mechanisms.	false
+18bdb01bfdb03d0ec971d388f519ca01c816b1a5	have been associated with various inherited @PHENOTYPICFEATURE$ syndromes, including @DISEASE$ (BrS).	false
+460043e8cb1e3cc92760b6a7b46e31ac95f5e8af	@DISEASE$ (BrS) is an inherited @PHENOTYPICFEATURE$ associated with sudden death due to ventricular fibrillation.	false
+af8b8f44868b7b99b7fc471cf42317608648c615	@DISEASE$ (BrS) is an @PHENOTYPICFEATURE$ syndrome with a risk of sudden death.	false
+318b501a47f85c658f66dbf28fe37b90a5860533	@DISEASE$ (BrS) is a primary @PHENOTYPICFEATURE$ syndrome affecting 1 in 2000 of the general population.	false
+f02a123c99433e039914ed642b6905264918e837	@DISEASE$ (BrS) is a primary @PHENOTYPICFEATURE$ syndrome characterized by the occurrence of malignant ventricular arrhythmias.	false
+977f48c5946c5cc88eac2aac67462b3503cbfc9d	The @DISEASE$ is an inherited @PHENOTYPICFEATURE$ associated with high risk of sudden death.	false
+72d7af38c24acc9afcb8766ce766a695a1411bf3	@DISEASE$ is a rare cardiological disease responsible for @PHENOTYPICFEATURE$ and potentially fatal cardiac arrest.	false
+5aaa80a0813e1d1c2b831ef2c92a5d04344f3d5f	@DISEASE$ (BrS) is a form of @PHENOTYPICFEATURE$ which may lead to sudden cardiac death.	false
+2e854f92d7ba9fb89b1ffef33a6bb66d6fb688ea	Mutations in ID proteins have been associated with @PHENOTYPICFEATURE$ such as @DISEASE$ and arrhythmogenic cardiomyopathy.	false
+7c337e33b0c5d14e3979a203d4bdf92051d1d0f2	Clinical markers of DIDS include @DISEASE$, allergies, cutaneous viral @PHENOTYPICFEATURE$ respiratory tract infections, and malignancy.	false
+0a212873ef9c7dad78ef6e96ad78a0ab23aa4d7e	Selective IgG2 subclass deficiency--a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+35c9228c952bf6839ea31407fd3c0d6802fafb05	Symptoms of food allergy in children are diverse and include vomiting, poor weight gain, @PHENOTYPICFEATURE$, malabsorption, cough, wheeze, rhinitis, @DISEASE$, urticaria and angioedema.	false
+2d29f29eed7178165c898728bec44e86655f5750	Symptoms of food allergy in children are diverse and include @PHENOTYPICFEATURE$, poor weight gain, abdominal pain, malabsorption, cough, wheeze, rhinitis, @DISEASE$, urticaria and angioedema.	false
+269e3b84c6dc8156078c2ebdce30ae4731821131	The most frequent complaints were @PHENOTYPICFEATURE$, aphtous stomatitis, and @DISEASE$.	false
+8f380a6a8d73ed38a8e60369e8d630951c6b51d1	Latex allergy occurs in persons considered at high risk including patient with spina bifida, @PHENOTYPICFEATURE$, @DISEASE$, health care workers and rubber industry workers.	false
+c9bd0309f8ae2b7e7e3be376654b6df1229ad033	Factors found to predict the subsequent onset of asthma included male sex of child, mother's age at the child's birth, pneumonia, whooping cough, tonsillectomy/adenoidectomy, allergic rhinitis, @DISEASE$ and periodic abdominal pain/@PHENOTYPICFEATURE$ attacks.	false
+4b4c54697073c582d6f2346ab4b982d1337a00c2	Factors found to predict the subsequent onset of asthma included male sex of child, mother's age at the child's birth, pneumonia, whooping cough, tonsillectomy/adenoidectomy, allergic rhinitis, @DISEASE$ and periodic @PHENOTYPICFEATURE$/vomiting attacks.	false
+91a9795325e11cdb1f0eeec2b9ce24effd5c5437	For all breeds, otitis externa, dermatitis or @DISEASE$, @PHENOTYPICFEATURE$, and diarrhea were common medical problems.	false
+1d446ade0b10c4bf2392722a2f764a69261c240c	Clozapine-Induced Late Agranulocytosis and Severe Neutropenia Complicated with Streptococcus @PHENOTYPICFEATURE$, Venous Thromboembolism, and @DISEASE$ Vasculitis in Treatment-Resistant Female Psychosis.	false
+4c149ce2e7493c6189936fa4896305a22045f65e	Gastrointestinal symptoms, especially diarrhea, @PHENOTYPICFEATURE$, and regurgitation, were more common in the children with @DISEASE$.	false
+cc7985a1f82526a0ea97960deb7e2a8ac1af0064	The symptoms involved wheezing, dry cough during night, rhinitis, @DISEASE$, cold/flu, ear inflammation, @PHENOTYPICFEATURE$ and tuberculosis.	false
+93381fa8583dd4b439b199f6f15cc7752e486b87	Hodgkin's disease and embryonal carcinoma: (2) those which were either negative or positive with distinctive patterns of staining--basal cell carcinoma, embryonal tumours: and (3) non-epithelial tumours that were consistently positive--epithelioid sarcoma, @DISEASE$, osteosarcoma, @PHENOTYPICFEATURE$ and myeloma--or positive in a significant minority of cases--leiomyosarcoma, malignant fibrous histiocytoma, clear cell sarcoma of tendon sheath, various neuroectodermal tumours.(ABSTRACT	false
+0e0c4b07657cfa74d0f2c6fc9718f9c3be583b84	The tumors included undifferentiated pleomorphic sarcoma, @DISEASE$, osteosarcoma, myofibroblastic sarcoma, myxofibrosarcoma, liposarcoma, dermatofibrosarcoma protuberans, metastatic chondrosarcoma and @PHENOTYPICFEATURE$.	false
+b9754f092e57ce91db162dafb724f8078cbc20be	Beef liver arginase, an enzyme potentially useful in the therapy of arginine dependent @PHENOTYPICFEATURE$ or of familial @DISEASE$, was purified to homogeneity by a procedure involving a key step of hydrophobic affinity chromatography.	false
+ec783a71cee66221f1059df12474fe5e96ed830b	There is significant interest in using arginase as a therapeutic antineogenic agent against L-arginine auxotrophic @PHENOTYPICFEATURE$ and in enzyme replacement therapy for treating @DISEASE$.	false
+ff462487149c0c94f5aec72f89a72f78c099720a	An optimized immunoassay was used to analyze CSF Ng in a retrospective cohort of 331 participants with different neurodegenerative diseases, including healthy controls (n = 19), biomarker-proven Alzheimer disease (AD) (n = 100), genetic AD (n = 2), behavioral variant frontotemporal dementia (n = 20), speech variant @PHENOTYPICFEATURE$ (n = 21), Lewy body dementia (n = 13), Parkinson disease (n = 31), progressive supranuclear palsy (n = 46), @DISEASE$ (n = 29), as well as a heterogeneous group with non-neurodegenerative cognitive impairment (n = 50).	false
+36e73404e3defc73990c82989f69652ca1f9817d	A subgroup of patients with @PHENOTYPICFEATURE$ and impairment of autonomic nervous control of the heart (heart transplants, autonomic neuropathy, @DISEASE$) did not show the cyclical heart rate pattern.	false
+cf5578348ae8bcc2f4c3eb8b7738b5edb40feac7	Although @PHENOTYPICFEATURE$ is frequently an early and prominent clinical feature of Parkinson's disease (PD) as well as atypical parkinsonian syndromes (APS) such as progressive supranuclear palsy (PSP) and @DISEASE$ (MSA), there is a lack of objective and quantitative evidence to verify whether any specific speech characteristics allow differentiation between PD, PSP and MSA.	false
+46687d68f5108206778cd06c3b08c6786d4b1018	@DISEASE$ may manifest with severe respiratory disorders, including @PHENOTYPICFEATURE$ and laryngeal stridor, which reflect a failure of automatic control of respiration.	false
+0814c9760c4c739d3c1878b6d0ccddf2ff649135	@DISEASE$ (MSA) is associated with respiratory dysfunction, including @PHENOTYPICFEATURE$, respiratory dysrhythmia, and laryngeal stridor.	false
+b9cab0c62aa01ad70c5c36f695cd8c35ac0aed8d	Breathing disorders like @PHENOTYPICFEATURE$, stridor, and dysrythmic breathing are frequent in patients with @DISEASE$ (MSA).	false
+916b8c4dc7be0bcf1c6a7503c79c3dddac830a59	@PHENOTYPICFEATURE$ contributes to the motor deficit in Parkinson's Disease and @DISEASE$.	false
+7dbf1d013df6d3f248186cd0f199ed4de24b211f	Clinical @PHENOTYPICFEATURE$ in Parkinson's disease, progressive supranuclear palsy, and @DISEASE$.	false
+e1cfafc4d1754c5bc3fbefcedde6e1048e69e8fd	[Acute bilateral recurrent laryngeal nerve @PHENOTYPICFEATURE$, a symptom of @DISEASE$].	false
+b1f0c89eef9c08d9147cf33300afd51cebcfc249	In Parkinson variant of @DISEASE$ (MSA-P), patterns of early @PHENOTYPICFEATURE$ and their distinguishing features from Parkinson's disease (PD) require further exploration.	false
+ebce7cc9f0b881a0288dd280bb8e08d0a3cc69f5	A 22 year-old Saudi patient is reported who had @DISEASE$ (Keratosis follicularis), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, cataract and @PHENOTYPICFEATURE$.	false
+368b085cd0d3b111ef05cc6b5ee59cb5647758b5	A 22 year-old Saudi patient is reported who had Darier-White disease (@DISEASE$), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, cataract and @PHENOTYPICFEATURE$.	false
+ea5641948642f0fa8c3b116cce2cdd5d80423858	It may be mistaken for nummular eczema, @DISEASE$, or fungal @PHENOTYPICFEATURE$.	false
+ad1541ec11e605839ab432bc3dd7318e68ce1cfd	This study describes four patients (three women) with upper limb @PHENOTYPICFEATURE$, chronic symmetrical polyarthritis, and @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b7e6b4f07cd96b7ab105e43e338964f0df78e8a2	Pruritus and @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+81f24f1e727bbae222632f63f3e94a1d75782098	Respiratory tract, abdominal, and @PHENOTYPICFEATURE$ occurred most frequently in patients with @DISEASE$.	false
+c929ed7317df8f4b93f6e4d24e80136a4bd3b46c	He had multiple @PHENOTYPICFEATURE$, scaly patches and plaques, originally diagnosed as @DISEASE$.	false
+9b23818a2b69beb19f3ec6c73937ac54fb56b265	Patients with psoriasis suffer from @PHENOTYPICFEATURE$ and pruritus more than those without @DISEASE$.	false
+2f81d52b4680a7ec0fe2cf07f9b32916f67afe77	Patients with @DISEASE$ suffer from @PHENOTYPICFEATURE$ and pruritus more than those without psoriasis.	false
+61b94233d958c5fa87be2d5f95b62384506c4838	Reticular @PHENOTYPICFEATURE$ mucinosis syndrome associated with @DISEASE$-like eruptions.	false
+c0018abacacbb18161d9ba63ae6b01145065a26a	Research suggests that @PHENOTYPICFEATURE$ is common in @DISEASE$.	false
+084a546358a07c81c32007ce6ed0bb284461c488	Plaque @DISEASE$, characterized by @PHENOTYPICFEATURE$ lesions covered with silvery scales, is the most common form.	false
+8fb05bea87dbaf506bce4c6a296637cadb756dc2	Tarsal @PHENOTYPICFEATURE$ in dogs with golden retriever @DISEASE$.	false
+1507b420d91e9fc6b3fd96cd8f63d7b1f8a82140	@DISEASE$ with humeropelvic distribution, early @PHENOTYPICFEATURE$, and permanent atrial paralysis.	false
+69ad147640942e9db0171c131acd63c2a2fca71d	Typical phenotypes include @DISEASE$, proximal @PHENOTYPICFEATURE$, and distal hyperlaxity.	false
+a52f7106a9799c412f24ce279e4e33ea69e576f2	Human collagen VI mutations result in @DISEASE$, joint hyperlaxity and @PHENOTYPICFEATURE$.	false
+786f1d20ed4ee030566654184dadc82ae171121e	X-linked @DISEASE$, benign form with @PHENOTYPICFEATURE$.	false
+6d5d6a9263fcde164dc8e26dfe015bafb77dd952	X-linked @DISEASE$ with early @PHENOTYPICFEATURE$ and cardiomyopathy (Emery-Dreifuss type).	false
+8d24f9d31aa5fce76ad17c974f3343b6c6e6cf2f	Emery-dreifuss humeroperoneal @DISEASE$: an x-linked myopathy with unusual @PHENOTYPICFEATURE$ and bradycardia.	false
+04269521f9c23c22dfc3360d04d0e56148e10687	@PHENOTYPICFEATURE$ are a major clinical issue for patients with @DISEASE$.	false
+e698e6bbc4ece1b2c7ff820d99947f21dbb2537b	Three patients are described with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ef684c793bbbb5329b0fd278c92fa7f9a9b5bcc	Facio-scapulo-humeral @DISEASE$ with early @PHENOTYPICFEATURE$ and rigid spine.	false
+7cc8b71981a67fc105d7d70d6449123c238f24d5	At the physical examination he showed bilateral @DISEASE$, @PHENOTYPICFEATURE$, hepatosplenomegaly and petechia.	false
+abf90a43cb35c378bedda504510bec1a931c0863	SSBP1 mutations in dominant @DISEASE$ with variable @PHENOTYPICFEATURE$.	false
+f0fe56c6468289094c49782b31412b6cda8508bf	@PHENOTYPICFEATURE$ @DISEASE$ complicated by syphilis; case report.	false
+abfe48dad5d50e68f3fe3c943a4412831777d9ff	Primary optic atrophy vs @PHENOTYPICFEATURE$ @DISEASE$.	false
+6f4a5ca59de21e0f5f4db6402bdc958007bacc90	Affected individuals can develop intellectual disability, epilepsy, @PHENOTYPICFEATURE$, hypotonia, ataxia, @DISEASE$, and retinal degeneration.	false
+fc4fb8410f3bee88908ed44f78c69d872cbe0c9b	Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+9bd546b234a41a587d40ede27cd754291569a430	@PHENOTYPICFEATURE$ and @DISEASE$ were present in one patient.	false
+8c0355f4521e632facc2e51da368fc1cba5f78bd	@PHENOTYPICFEATURE$ and @DISEASE$ were evident ophthalmoscopically in two to three weeks.	false
+a555febb4cb792756298d56be8b36db2dde78bda	Left eye had total @PHENOTYPICFEATURE$ @DISEASE$.	false
+89126fbe7e9bf35fe242136851f4c3ff02d1e2f8	@PHENOTYPICFEATURE$ with @DISEASE$ is common in osteopetrosis.	false
+d0daaf8c7c3962d52fdd2b357e648c5dd9f3061b	Atactic and athetoid movements, @DISEASE$, @PHENOTYPICFEATURE$ are observed in most cases.	false
+193baa2505da87f2a81923f8f31c44479a528702	The normal dimensions of the posterior fossa and FM were less in females than males and were useful to radiologists and neurosurgeons to better their diagnostic inferences, as well as to determine the proper treatment options in @DISEASE$ (CMI) and other @PHENOTYPICFEATURE$.	false
+0e7ce3d26350eb8696c50862d72280238f79f75c	In this article the authors describe a patient with @DISEASE$ and neurogenic arterial @PHENOTYPICFEATURE$.	false
+6bdd402d4ba5f84e0e809316ec89f9f644c6f22e	The authors describe the case of a fifty-nine-year-old white man, previously in good health, who initiated his present illness with acute episode of @DISEASE$ characterized by mild fever and, in the next eight hours, twenty-four episodes of watery diarrhea, @PHENOTYPICFEATURE$, as well as generalized sweating and severe weakness secondary to hypovolemia and electrolyte disorder.	false
+0b6608fe6a385504fa716713b3e6094a0dd72e1e	Neutropenic @DISEASE$ (NE) must be recognized in patients with fever, neutropenia, and @PHENOTYPICFEATURE$.	false
+6ef324ed436fb13845dfed267215ec17ce98e667	Neutropenic @DISEASE$ is a symptom complex of fever, abdominal pain, distention, nausea, @PHENOTYPICFEATURE$, diarrhea, and bloody stools occurring in a patient with a low neutrophil count and is most often seen in patients with acute leukemia after a course of chemotherapy.	false
+c1065532dce6634af16030aff8aa4b79712194e7	Neutropenic @DISEASE$ is a symptom complex of fever, @PHENOTYPICFEATURE$, distention, nausea, vomiting, diarrhea, and bloody stools occurring in a patient with a low neutrophil count and is most often seen in patients with acute leukemia after a course of chemotherapy.	false
+87b470773eafda893eafadbd51801a4769b18aed	Neutropenic @DISEASE$ is a common complication, generally occurring in patients who are severely neutropenic; the condition presents with fever and @PHENOTYPICFEATURE$.	false
+b8122d3ff485f8c9eb6fe151a20085f0510d86c5	Netropenic @DISEASE$ should always be considered in neutropenic leukemic children with the triad of fever, @PHENOTYPICFEATURE$, and abdominal pain.	false
+81d2049bf02302df627b5da5fb933f87297e3a53	Netropenic @DISEASE$ should always be considered in neutropenic leukemic children with the triad of fever, vomiting, and @PHENOTYPICFEATURE$.	false
+9a34abefb303244beb1869e6215e80ccaa830382	Neutropenic @DISEASE$ (NE) is characterized by fever, @PHENOTYPICFEATURE$, and neutropenia.	false
+6d033231207001f1eeceaa3043ba3ac5edd12543	Here we report a case of a 59-year-old man who developed neutropenic @DISEASE$(NE)after autologous peripheral blood stem cell transplantation for non-Hodgkin's lymphoma in his second complete remission.Four days after transplantation, the patient suffered from diarrhea, @PHENOTYPICFEATURE$, fever, and paralytic ileus.Abdominal computerized tomography scan revealed bowel wall thickening consistent with NE.Owing to his poor performance status, only medical management, including antibiotics and bowel rest, was administered, and the patient died 18 days after transplantation.Although NE after autologous peripheral blood stem cell transplantation is a relatively rare complication, it is important to be aware that this condition can occur as one of the early complications in stem cell transplantation.	false
+a121566ea005201265e39fe1314bed740c15da84	[Hand and @PHENOTYPICFEATURE$ in a @DISEASE$.	false
+72f99c59483c5aae9af2f2711938ab409ba7ca32	Such findings make the @DISEASE$ patients particularly vulnerable for @PHENOTYPICFEATURE$ fluid collection.	false
+aa5316b4ffac61dd59bbb6bf9c6edfa3caaca038	Idiopathic systemic capillary leak syndrome (SCLS) is a rare and @DISEASE$ fatal vascular disorder characterized by reversible bouts of hypotension and @PHENOTYPICFEATURE$ resulting from fluid and solute escape into soft tissues.	false
+6fce905ca3bf6838fb0c8d652adcfb87b3680fd8	The data suggest that resting venous pressure is higher and the threshold for @PHENOTYPICFEATURE$ is lower in @DISEASE$ patients compared with controls.	false
+2fb2303f18f8a614f2c06918008c0f875458a4d9	Contrast-enhanced MRI was performed immediately after sonication and every 24?h up to 6 d thereafter, to assess BBB opening, brain tissue permeability and @DISEASE$ @PHENOTYPICFEATURE$.	false
+e8a9e32b53033bda3a40714cf2a4dfaabe720683	The threshold for @PHENOTYPICFEATURE$ formation decreased in @DISEASE$ patients compared with controls (8.3 vs. 16.3 mmHg).	false
+c384578b850eb7324b0252a6618b23db9056c04a	We emphasise the need of an exhaustive and complete examination by the ophthalmologist in cases of non-responders to topical antibiotic and antiinflammatory treatment in patients with bilateral conjunctival @PHENOTYPICFEATURE$, in order to make a correct diagnosis of systemic @DISEASE$ lethal diseases.	false
+02644e8efebc5f8d14f198dfb7e588517f14a43c	Methadone overdose and @PHENOTYPICFEATURE$ @DISEASE$: findings from a review of the evidence for an American Pain Society and College on Problems of Drug Dependence clinical practice guideline.	false
+d6949b8a5eca8e68c844cb3e948d2f05189cf51a	This article summarizes evidence related to unintentional overdose due to methadone and harms related to @PHENOTYPICFEATURE$ @DISEASE$.	false
+6930932b147a059c670e742f4921822a3e42d11e	Such superior depiction of the margins of abnormality is important for radiation therapy planning because of the known tendency of oligodendroglioma to infiltrate adjacent @PHENOTYPICFEATURE$, making all areas of abnormality @DISEASE$ tumor-bearing tissue.	false
+80aacdfbaa7a3a18d54739f6794fcb1c3f5d32c0	765 patients with stable angina and ventricular @DISEASE$ malignant @PHENOTYPICFEATURE$ were evaluated angiochoronarographically, echographically, by programmed electrical stimulation (PES), standard ECG, Holter ECG, radiologically, and by stress test.	false
+5d91e9d05a0ac344d1039c10a12c2837d310c5f9	For those examined during infancy, 53 age and sex matched controls were recruited and examined.. Congenital abnormalities occurred in 5 (9.43%) babies of WWE [atrio-ventricular septal defect (2), @DISEASE$ (1), cryptorchidism (1), @PHENOTYPICFEATURE$ (1)] compared to 2 (3.77%) in controls (2 microcephaly; p?=?0.24).	false
+52b4a677415550c6def918d69a047a8845eb6091	For those examined during infancy, 53 age and sex matched controls were recruited and examined.. Congenital abnormalities occurred in 5 (9.43%) babies of WWE [atrio-ventricular septal defect (2), @DISEASE$ (1), cryptorchidism (1), microcephaly (1)] compared to 2 (3.77%) in controls (2 @PHENOTYPICFEATURE$; p?=?0.24).	false
+e0d0c79e6bea7690f015fd42be19c79c8aeb818d	In another patient presenting with @DISEASE$ and proximal ureteric stenosis combined with mental retardation, @PHENOTYPICFEATURE$ and ear anomalies, a duplication of 2.73?Mb was detected in 1q21.1.	false
+6c5181687fe7513bab7d60b8ed17b034b77d8be8	The common limb defects include oligodactyly, @PHENOTYPICFEATURE$, syndactyly or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral @DISEASE$, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities.	false
+5af38336621ef8997727d4589b617331d25c2668	Findings include @PHENOTYPICFEATURE$, agenesis of the corpus callosum, bilateral posterior colobomas, cataract and optic nerve dysplasia, patent foramen ovale, @DISEASE$, hypospadias and unilateral inguinal hernia, unilateral hypoplasia of the lower limb, sparse and patchy hair, subtle pigmentary mosaicism, and global developmental delay.	false
+1f08b43b4a720ba3e8cf150085cdf14a499acf93	An 8-year-old girl with preexisting chronic renal failure (CRF) due to bilateral @DISEASE$ presented with @PHENOTYPICFEATURE$, gross hematuria and acute deterioration of renal function.	false
+5ce303d071060060df6a280d73dd816a42778890	We report on a brother and sister, born to nonconsanguineous parents, with @DISEASE$, M?llerian duct hypoplasia, and strikingly similar @PHENOTYPICFEATURE$.	false
+90b519dd1b7bf4e387fdba4b594de985ab63e243	A five-year-old girl presented with mental retardation (MR), @PHENOTYPICFEATURE$, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, @DISEASE$, nonobstructive ureteral stasis, pyelonephritis, and renal failure.	false
+20dfa733fb3049bb6a191de3a94e7c88396bd77d	Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, @PHENOTYPICFEATURE$, @DISEASE$, and spastic paraplegia.	false
+9263c582d63752f5b3220dbb488fcc6af5f3368c	This patient had bilateral @DISEASE$ resulting from the oligohydramnios sequence (Potter syndrome), including characteristic @PHENOTYPICFEATURE$, deformed limbs, and pulmonary hypoplasia.	false
+84afc76ba022bc25aaff4d9930743726f0f7bf6e	An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, @PHENOTYPICFEATURE$, a cleft lip and @DISEASE$.	false
+d718e3467c82cdeec3a046a52ee82f114643aa1d	Some patients do not tolerate the @DISEASE$ mode because of inappropriate @PHENOTYPICFEATURE$, mainly related to postural changes.	false
+ff56cff0521c7bc5b2e51a444dd9aa821c89db45	Coffin-Lowry syndrome (@DISEASE$) is a well-described syndrome characterized by intellectual disability, @PHENOTYPICFEATURE$, recognizable dysmorphic features, and skeletal changes.	false
+779fa9b2d4cb8e62c3074464d9012acf3976e3a1	Death from sepsis, @PHENOTYPICFEATURE$, adult respiratory distress syndrome, and @DISEASE$ continue to be rarely reported.	false
+270994fa03a46ed5f7e35c521939026a4e72e42f	Diagnostic clues of LS are multiple lentigines and @DISEASE$, hypertrophic cardiomyopathy and @PHENOTYPICFEATURE$.	false
+427350efe732e807d7cd755053460c065531d41b	@PHENOTYPICFEATURE$ are known to be associated with @DISEASE$.	false
+27f1ca7d0acbf3ce7f181357da7c7fa432625947	The Coffin-Lowry syndrome (@DISEASE$) is a rare but well-defined X-linked semidominant syndrome characterized by psychomotor and @PHENOTYPICFEATURE$, and progressive skeletal changes.	false
+ed34bea332013bbc72994be9cc50a859d6d0130f	In the postoperative period, one patient developed a severe @DISEASE$, and died due to irreversible congestive @PHENOTYPICFEATURE$.	false
+42bffea206059fb967281fe9c255da87c2d695f2	The large majority of patients with @DISEASE$ reported in the literature have splicing and missense mutations, which result in syndactyly, oligodactyly, and minor @PHENOTYPICFEATURE$.	false
+8982e36be20a632bdabba064230165e438799316	The Coffin-Lowry syndrome (@DISEASE$) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with @PHENOTYPICFEATURE$.	false
+faa740a593934f11e8f3119764328c4d694d696f	Family evaluation revealed that the father had heterochromidia irides and @PHENOTYPICFEATURE$ supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (@DISEASE$).	false
+86d8ae1d39186582944d1146b101964cc0a7e6e9	AAV vectors are currently in use in Phase I/II clinical trials for gene therapy of a number of diseases such as cystic fibrosis, ?-1 antitrypsin deficiency, @PHENOTYPICFEATURE$, Batten's disease, and Parkinson's disease, and have shown efficacy in patients with Leber's congenital amaurosis, and @DISEASE$. For patients with hemophilia B, however, relatively large vector doses are needed to achieve therapeutic benefits.	false
+5b73de532252b683b301cfe1121ff29df4fc71e6	AAV vectors are currently in use in Phase I/II clinical trials for gene therapy of a number of diseases such as cystic fibrosis, ?-1 antitrypsin deficiency, @PHENOTYPICFEATURE$, Batten's disease, and Parkinson's disease, and have shown efficacy in patients with Leber's congenital amaurosis, and hemophilia B. For patients with @DISEASE$, however, relatively large vector doses are needed to achieve therapeutic benefits.	false
+ea330a6fb59e5d497f397c6ee9938c8c03b95690	These studies resulted in various levels of correction of the disease phenoypes in small and large animal models of @DISEASE$ (F.IX deficiency), @PHENOTYPICFEATURE$, obesity, age-related atrophy, and beta-thalassemia (8,12,13,15,17,18,20-25).	false
+0d50bd17cfb2dace6479bb07f1de01b23499602e	Acute febrile neutrophilic dermatosis (@DISEASE$) (Sweet's syndrome) is characterized by warm, erythematous plaques, accompanied by arthralgias, @PHENOTYPICFEATURE$, and leukocytosis.	false
+31b3cd603c8b0e12e721cd30723df58d7a99f6f9	Acute febrile neutrophilic dermatosis (@DISEASE$, Sweet's syndrome) is clinically characterized by @PHENOTYPICFEATURE$, neutrophilic leukocytosis, and tender dermal plaques.	false
+b1a195eec8a6ec943f354bd566c54f635c0cfbda	Taken together, the data indicate that in @PHENOTYPICFEATURE$, @DISEASE$-deficiency not only improves peripheral insulin resistance but also preserves pancreatic beta cell function and has beneficial effects on lipid metabolism.	false
+80adddf80cc8c1b0de577f1dc0a404d45aa7209e	Mice with @DISEASE$ deficiency are partially resistant to @PHENOTYPICFEATURE$-induced insulin resistance and type 2 diabetes, have lower circulating triglycerides, and exhibit marked protection against atherosclerosis.	false
+f02bf31ff9c5ecc94f184dff98923cb921a850fd	Here, we asked whether aP2-related alterations in lipolytic response and insulin production are features of obesity-induced insulin resistance and investigated the effects of @DISEASE$-deficiency on glucose homeostasis and lipid metabolism in ob/ob mice, a model of extreme @PHENOTYPICFEATURE$.	false
+ca934fa890128d09bd562e3cdb718672d3e0d4f0	Here, we asked whether aP2-related alterations in lipolytic response and insulin production are features of @PHENOTYPICFEATURE$-induced insulin resistance and investigated the effects of @DISEASE$-deficiency on glucose homeostasis and lipid metabolism in ob/ob mice, a model of extreme obesity.	false
+2ec8794e6b2001c3834272fbe112367c9c16ca07	Previous studies in @DISEASE$-deficient mice have indicated a significant role for aP2 in @PHENOTYPICFEATURE$-related insulin resistance, type 2 diabetes, and atherosclerosis.	false
+58fd6fbe8f8e9e1af31ea06f2cb07ddfdf948df2	We report a 12-year-old patient with @PHENOTYPICFEATURE$, exercise intolerance, lactic acidosis (increasing after exercise) and @DISEASE$. Muscle biopsy shows abundant COX-negative fibers, subsarcolemmal mitochondrial aggregates and markedly reduced activities of all respiratory chain complexes.	false
+aef60b9765612b09761e28007ee9f34e60b85df0	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, @PHENOTYPICFEATURE$ of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+45809678d845005561a39979c4296e6c1f615164	Here, we describe a case of a subject with adult-onset @DISEASE$ caused by a novel combination of missense mutations p.Gly473Ser and p.Ala487Val, resulting in chronic musculoskeletal pain, myopathy, persistent fatigue, @PHENOTYPICFEATURE$, and an uncommon dental phenotype of short-rooted permanent teeth.	false
+c33263713ae1711a6e574d1883b6492e542062ce	The cases discussed highlight the main features of @DISEASE$ and indicate the need for improved clinical guidance on the investigations, treatment and genetic screening of familial @PHENOTYPICFEATURE$ calcinosis.	false
+b1a5f56064b45db27fe37f34822a30fd6e9abdb2	Considering that he was also presented with facial paralysis and nasal obstruction symptom, the diagnosis of @DISEASE$ was suspected, and then was confirmed by the mutation analysis of ANKH of the proband and his family, which showed a de novo heterozygous @PHENOTYPICFEATURE$ (C1124-1126delCCT) on exon 9.	false
+e5adb7af247409760c2f57aa9ff106b92222efba	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant @DISEASE$ hypophosphatemia and @PHENOTYPICFEATURE$ calcinosis.	false
+6fd4126014416bcb2fb1bf21c2fc71b6cb3ebe10	Phosphatonins have been associated with hypophosphatemic diseases, such as tumor-induced osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant @DISEASE$ hypophosphatemic rickets and hyperphosphatemic disease (e.g., @PHENOTYPICFEATURE$ calcinosis).	false
+4651f1ee1a1acfd7bff4c95e3caa9f39efa85322	Establishment of an enzyme-linked immunosorbent assay for FGF23 indicated that excess actions of FGF23 result in hypophosphatemic rickets/osteomalacia such as X-linked, autosomal dominant, @DISEASE$/osteomalacia, and @PHENOTYPICFEATURE$-induced rickets/osteomalacia.	false
+c5873226087eb3289c0ef1b162d45c4e117284cd	Several hypophosphatemic diseases including X-linked, autosomal dominant and @DISEASE$/osteomalacia and @PHENOTYPICFEATURE$-induced rickets/osteomalacia are caused by excess actions of FGF23.	false
+3e1f14ee584e2b522631cb0d9ff3795aba2fe89d	The dwarfed persons have some radiological findings in keeping with @DISEASE$, but they are, in addition, of short stature and have marked @PHENOTYPICFEATURE$ of their fingers and toes.	false
+34f84e6ae91ee1f1d3a2ba06008d149e5c95bc59	Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X @PHENOTYPICFEATURE$ (FMR1) gene, @DISEASE$ related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the ?-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.	false
+3d63c8255e8896faf3f8ed8c21a3351512c1389c	Expansion of repeating triplets of nucleotides in the genome has recently been associated with nine degenerative and developmental neuropsychiatric diseases: fragile X syndrome, fragile X-linked @PHENOTYPICFEATURE$, myotonic dystrophy, Friedreich's ataxia, spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type 1, dentatorubral-pallidoluysian atrophy, and @DISEASE$.	false
+292ff5e26e235a8b629b3a4d449f7f38db606828	To date, seven diseases have been identified as expanded repeat disorders: the fragile X syndrome of @PHENOTYPICFEATURE$ both FRAXA and FRAXE loci), myotonic dystrophy, X-linked spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type I, dentatorubral-pallidoluysian atrophy, and @DISEASE$.	false
+6428ed3dc66e19c9f128047349383cdfd3e54308	A genetically confirmed case of spinocerebellar ataxia type 3 (@DISEASE$), presenting with @PHENOTYPICFEATURE$ foot dystonia, peripheral neuropathy, and minimal cerebellar signs is reported.	false
+224d85dbc8ab67cd3fe3467db029df8731ca9b45	A genetically confirmed case of @DISEASE$ (SCA 3), presenting with @PHENOTYPICFEATURE$ foot dystonia, peripheral neuropathy, and minimal cerebellar signs is reported.	false
+123848e8bd6d36aa066b2d9533ce7c96319fd317	Two patients needed laparoscopy: one for the reduction into the preperitoneal space and the other for the nonreducible hernia due to @DISEASE$ @PHENOTYPICFEATURE$.	false
+a632189ed4e6f850692a4f83e4a1f3432459e333	Frequency of @DISEASE$ X syndrome among institutionalized @PHENOTYPICFEATURE$ males in Poland.	false
+ac6e687f409566baf510d1a4bc0ed0866c995f0d	The fragile X syndrome (@DISEASE$-X) is the most common cause of inherited @PHENOTYPICFEATURE$ with X-linked semi-dominant inheritance.	false
+5e32c569daae38a0fdd2d08f3ff8298c7eaf7b9c	(1) The occurrence of @PHENOTYPICFEATURE$ in @DISEASE$-X population is around 20%, as reported in the literature.	false
+50f1f56e693c52d7bd4bf046aa2dce687cd39b13	Friedreich ataxia, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and @DISEASE$12A @PHENOTYPICFEATURE$ are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.	false
+964db5d165422aa1d5e745b4b5718d57757ac137	Friedreich @PHENOTYPICFEATURE$, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE mental retardation, and @DISEASE$12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.	false
+f4232f0ecdc08163446305c8f5c912028e0530be	Friedreich ataxia, myotonic dystrophy type 1 and 3 forms of intellectual disability, fragile X syndrome, FRAXE @PHENOTYPICFEATURE$, and @DISEASE$12A mental retardation are repeat expansion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.	false
+d495f6fc05e0223de7feb11830135e96f330ff6d	The present study describes cognitive skills and information processing strategies of @PHENOTYPICFEATURE$ @DISEASE$(X) men.	false
+29e6cf272c94801f63e39358060379d00f266ace	Stroke, Sneddon's syndrome, and livedo reticularis were more frequent in @DISEASE$ patients with seizures than those without @PHENOTYPICFEATURE$, although not statistically significant (P > 0.05).	false
+1c8fb2a4bf4b37fcc0fbf837ab6e27a19706467e	Stroke, Sneddon's syndrome, and livedo reticularis were more frequent in @DISEASE$ patients with @PHENOTYPICFEATURE$ than those without seizures, although not statistically significant (P > 0.05).	false
+fdb686dc1d60ef55e4e1752c2da5a5daaf936f3e	Friedreich's @PHENOTYPICFEATURE$ (@DISEASE$) is an autosomal recessive disease of the central nervous system that is associated with familial cardiomyopathy.	false
+c1a4c4002db9f00cfd85638616d369bd21aed464	The fragile X (@DISEASE$-X) syndrome is the most frequent form of inherited @PHENOTYPICFEATURE$.	false
+a4108b9c6aa665d13d2c9c969f3585e0b8dd9f63	We analyzed 18 Mexican individuals with the @DISEASE$-X syndrome, 40 of their relatives (first and second degree), and 76 healthy individuals without antecedents of @PHENOTYPICFEATURE$.	false
+dfbc1b02a8084a11e0b891c86cf9d8fa718ed4d7	The occurrence of @PHENOTYPICFEATURE$ in patients with fragile X syndrome (@DISEASE$-X) is reported.	false
+22da3bcaad098e874d16b3357c2d4f3c179a0df1	The case also exhibited severe ocular malformations and @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+0e4ab07642c3258e727d73f0016794c83231c4fb	Walker-Warburg syndrome (WWS) is a lethal, autosomal recessive disorder characterized by Type II lissencephaly, retinal malformation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+40297b3d8291bb6f0844b5712e479d33afd4960a	Merosin-deficient @DISEASE$ with @PHENOTYPICFEATURE$ and normal cranial MRI: a report of two siblings.	false
+354496a8c136b156d6f4fb7f9b862ba86fbc1e6a	CNS in @DISEASE$ without @PHENOTYPICFEATURE$.	false
+71acce12ccce42455bc7b5a734906a57be62ae33	The evidence of severe structural brain abnormalities in association with @PHENOTYPICFEATURE$ is characteristic in @DISEASE$ (CMD) forms other than the 'classical' form.	false
+e668ed45bead1ea682a9749e96ce4071dbdc9946	The evidence of severe structural brain abnormalities in association with @PHENOTYPICFEATURE$ is characteristic in congenital muscular dystrophy (@DISEASE$) forms other than the 'classical' form.	false
+4f8dbaefa4c428191c46eae9a1bd211441b1cfcc	@DISEASE$ associated with calf hypertrophy, microcephaly and @PHENOTYPICFEATURE$ in three Italian families: evidence for a novel CMD syndrome.	false
+4ed258c1ffefa1d1ac938d507cca422530b1cd21	Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and @PHENOTYPICFEATURE$ in three Italian families: evidence for a novel @DISEASE$ syndrome.	false
+2d5710c4614ee64bcf624f814563332c43b433a7	The diagnosis is established by the presence of four criteria: @DISEASE$, type II lissencephaly, @PHENOTYPICFEATURE$, and retinal malformation.	false
+1f15deb0fbf39b81027b6923870cb927734b9044	Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+ed600bdb788321e580d5d7da428c50906252b7c0	Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild @DISEASE$ (CMD) and @PHENOTYPICFEATURE$.	false
+801d7738c22d75875e62bceb4a5978ea73b60d44	A three-year-ten-month old boy with the Fukuyama type of @DISEASE$ (FCMD), early onset of @PHENOTYPICFEATURE$, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+3fbaa9c10e260a9d07221f7c51a2b66cf5eb2fab	A three-year-ten-month old boy with the Fukuyama type of @DISEASE$ (FCMD), early onset of muscular hypotonia, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of gyrate atrophy is described.	false
+c1cd0208b8be9c4dbba46e1b082e119bd5f7a532	Severe @PHENOTYPICFEATURE$, obstructive hydrocephalus, severe eye abnormalities, and @DISEASE$ are not seen.	false
+6a4979cf16d9546df6f04c7f3dd921cf43b1266e	@DISEASE$ is pathologically characterized by extensive glomerular capillary casts which are stained positive for apoE, and clinically it is characterized by @PHENOTYPICFEATURE$, proteinuria, hypoalbuminaemia and anemia.	false
+a63b1d9eedb0032485aef25daae599c4956a38bc	Using the case of Mr E, an older, moderate to heavy drinker experiencing memory difficulty, the diagnostic considerations, which include mild cognitive impairment, early Alzheimer @PHENOTYPICFEATURE$, @DISEASE$, and "alcoholic dementia," are discussed.	false
+ca1266e087f348b0e17b7b2278e3e86489ef41d9	Differential diagnosis of delirium include stroke, @PHENOTYPICFEATURE$, metabolic diseases, disturbances in electrolytes as well as @DISEASE$ and psychiatric diseases.	false
+7839f24646a5aea401b2488c70bef8343b5bfa99	In the present study, the CET performance of a large number of patients suffering from head injury, brain tumour, ruptured aneurysm (anterior communicating artery and other), multiple sclerosis, @PHENOTYPICFEATURE$, encephalitis, @DISEASE$ and anxiety/depression were compared with CET scores from 150 healthy controls.	false
+3376e69cdc12ebad72d6714bf96263ccee9a884e	Complications attributed to these resections included: disorders of the hypothalamic-pituitary axis (3) - diabetes insipidus, galactorrhea, and @PHENOTYPICFEATURE$; tumor recurrence (2); aseptic meningitis (1); and a transient @DISEASE$ (1).	false
+d0755573f933f41616d3306958aa2825ef150ce8	The applicability and validity of these norms were further examined in different groups of patients with stroke (n = 106), diabetes mellitus (n = 376), MCI/early @PHENOTYPICFEATURE$ (n = 70), psychiatric disorders (n = 63), and @DISEASE$ (n = 41).	false
+aaab23b04787eacc0968ddce08b9c61058103bfc	On examination there was frontal type @PHENOTYPICFEATURE$ with @DISEASE$, a decrease in propioception and ataxic gait.	false
+c0e9e2e766870c0a9cb2acb2852f767d8ad2ce27	The autosomal recessive mutation hCx47M283T causes @DISEASE$ (PMLD1), a progressive leukodystrophy characterized by hypomyelination, retarded motor development, nystagmus, and @PHENOTYPICFEATURE$.	false
+cc3c1960fcb789651bf87b1401f420af290c1c7d	9-O monofilament polydioxanone (@DISEASE$): a new synthetic absorbable suture for @PHENOTYPICFEATURE$ wound closure.	false
+ca4b2aff9b766fe82bc7bbec723a422363c2eeea	This phenotype resembles that of the human @PHENOTYPICFEATURE$ syndrome Pendred syndrome, caused by mutations in the @DISEASE$ gene.	false
+88d0a2c196f7d907dab486a194c802d6d5ef6ff7	Mutation analysis of the @DISEASE$ gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner @PHENOTYPICFEATURE$.	false
+14c85aeb193938912e3822d849d99d069dc840ee	Mutation analysis of the @DISEASE$ gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with @PHENOTYPICFEATURE$, was performed in 24 deaf patients with various middle and inner ear anomalies.	false
+b0151a6e914db7de38465ab393167cbd57374062	Pendred's syndrome (@DISEASE$) is an autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$ and goiter.	false
+a2b0f9ec025a7e5de10a4421b3929da3a1a74446	Four of the patients had PDS without ocular hypertension or @PHENOTYPICFEATURE$, 6 had @DISEASE$ and ocular hypertension, and 91 had PG.	false
+40da04ff7c4dac3e45f683d2516f430215a9b768	Four of the patients had @DISEASE$ without ocular hypertension or @PHENOTYPICFEATURE$, 6 had PDS and ocular hypertension, and 91 had PG.	false
+981b2e6418ed7d50ff76667076b7bd27a8238068	Another 15 patients without a @DISEASE$ mutation but who had @PHENOTYPICFEATURE$ were also recruited as a comparison group.	false
+07634264ff976f737a219c5810751f013e11c1f3	Pendred syndrome (@DISEASE$) is an autosomal recessive disorder clinically characterized by @PHENOTYPICFEATURE$ and goiter.	false
+760a642026b0e2e1c2d3ee9be3f45e0d6d6ceca0	The pseudo-Pendred phenotype exhibited by the family without @DISEASE$ mutations is likely caused by an autoimmune thyroid disease associated with a @PHENOTYPICFEATURE$ of different origin.	false
+f275ab8c67a5ac492232740b1554a7654ccb6334	75 patients with uncontrolled glaucoma and @PHENOTYPICFEATURE$ were randomized for PC (37 eyes) or @DISEASE$ (38 eyes).	false
+6cdada29ef35f083bf0df1b37dbf87a45508e7d9	GJB2, SLC26A4 (@DISEASE$) and mitochondrial DNA (mtDNA) have been associated with @PHENOTYPICFEATURE$.	false
+c3afb09bd637b3a83ab93bdfb75ba21c46814ffe	@PHENOTYPICFEATURE$ accompanying @DISEASE$.	false
+3c6bfe767f25c337e47c3676c1be5f8467830550	We describe a 5 years and nine months old boy who presented with facial features, @PHENOTYPICFEATURE$ and dwarfism consistent with @DISEASE$.	false
+b7065decc8b2f801066e9292a77fd25ba13ab9a9	In addition, he has @PHENOTYPICFEATURE$, brachymelia of the arms, and a ventricular septal defect-features that are reminiscent of @DISEASE$, which has also been shown to be caused by mutations in ROR2.	false
+fee4be649b8c1bb5d5bb615396c2abd5ba671d12	The search identified the following health outcomes: visceral leishmaniosis, malaria, Alzheimer's disease, @DISEASE$, multiple sclerosis, prostate cancer, non-syndromic cleft lip/palate, @PHENOTYPICFEATURE$, sickle cell disease, primary congenital glaucoma, preterm labour, preterm premature rupture of membranes, systemic lupus erythematosus and type 1 diabetes mellitus.	false
+7d31f15b0ca2394e0bb1c5785826e7f5c166c606	@DISEASE$ (NMO) is a rare @PHENOTYPICFEATURE$ affecting the optic nerves and spinal cord.	false
+0f67c44a1fface2a4ce4fe52527884a50b42171f	Furthermore, neuroepithelial denudation precedes noncommunicating hydrocephalus and this neuroepithelial disruption could allow aquaporin-4 to reach anomalous brain areas where it is unrecognized and induce the generation of aquaporin-4 antibodies which could cause the @DISEASE$ and certain types of @PHENOTYPICFEATURE$.	false
+5777fd387485c778bf90c9713e68cd3cd1e9631f	@DISEASE$ (NMO) is a demyelinating @PHENOTYPICFEATURE$ of the optic nerve and spinal cord triggered by binding of NMO-specific immunoglobulin?G (NMO-IgG) auto-antibodies to the water channel aquaporin-4 (AQP4) in astrocytes.	false
+d619971aa2e668e017fc17b145b0e30fa4441749	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, @DISEASE$, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+4fae36d21b44f39a6050ca7834538c3700fe011d	Such a membrane protein is, in fact, involved in a multiple sclerosis-like immunopathology called @DISEASE$ (NMO) and in several disorders resulting from imbalanced water homeostasis such as @PHENOTYPICFEATURE$ and cerebral edema.	false
+ba5125f306172124620d5d4f60191693502332ee	AQP4 is involved in various pathologies such as: stroke, brain tumors, @DISEASE$ (NMO), Alzheimer's Disease (AD), traumatic brain injury, Parkinson's Disease, @PHENOTYPICFEATURE$, schizophrenia, epilepsy, major depressive disorder, autism.	false
+eb9f614b0ab0beaf43ef77e7863b3a08471d0f44	Common histopathologic findings included @PHENOTYPICFEATURE$, parakeratosis, spongiosis, acanthosis, exocytosis, apoptosis, a perivascular lymphohistiocytic infiltrate, @DISEASE$ dermal edema, and increased dermal mucin.	false
+81f2e34bbff9a7200329b7a7bd6a43468a597969	Common histopathologic findings included hyperkeratosis, parakeratosis, spongiosis, acanthosis, exocytosis, apoptosis, a perivascular lymphohistiocytic infiltrate, @DISEASE$ dermal @PHENOTYPICFEATURE$, and increased dermal mucin.	false
+ee9d77975510025a5320338a3b3e41aad0fc0050	For limb reduction defects, however, we did not find any association between upper limb and @DISEASE$ neural tube defects or lower limb and lower @PHENOTYPICFEATURE$.	false
+f33ade4579f0bba378f707250a5b8cecaf4c068f	For limb reduction defects, however, we did not find any association between upper limb and @DISEASE$ @PHENOTYPICFEATURE$ or lower limb and lower neural tube defects.	false
+f1fc452fcd7e420e79bc50a1c9a8e7dcb66b0154	Dasatinib may have activity in patients with @DISEASE$ but is inactive as a single agent in the other @PHENOTYPICFEATURE$ subtypes included herein.	false
+565d0dbc42061e451864e3fbd7fe03603ef5725e	Juvenile type of distal and segmental @PHENOTYPICFEATURE$ of @DISEASE$ extremities.	false
+778463efa40e49049107d500850c2df9787fa073	Congenital @PHENOTYPICFEATURE$ are associated with clefts of the @DISEASE$ lip and/or the palate in about half of the cases.	false
+654a4ffe52b05c28e76f4147ca938541ca1d4a85	One patient had @PHENOTYPICFEATURE$ of the @DISEASE$ cutaneous lip.	false
+f74b4225bb4d3a1521023a568b645b93a620c512	Common facial dysmorphisms include a thin @DISEASE$ lip, a tented upper lip, a triangular face, strabismus and @PHENOTYPICFEATURE$.	false
+be05f322eb41233461a3a1d39214e7411a911bfa	Common facial dysmorphisms include a thin upper lip, a tented @DISEASE$ lip, a triangular face, strabismus and @PHENOTYPICFEATURE$.	false
+565d0dbc42061e451864e3fbd7fe03603ef5725e	Juvenile type of distal and segmental @PHENOTYPICFEATURE$ of @DISEASE$ extremities.	false
+daee6378562658e6da36715d30d053982dea4179	Unilateral @DISEASE$ extremity @PHENOTYPICFEATURE$.	false
+ef4f5deb6e48c868108f62e7da52865d074d71be	He showed nonflaccid bilateral diaphragmatic paralysis and @PHENOTYPICFEATURE$ of the @DISEASE$ extremities.	false
+f12b18f4517a4adb92c6bea78094690088eac3aa	We present a patient with @PHENOTYPICFEATURE$ who developed @DISEASE$ and NMS following administration of CBZ.	false
+7a6b47283a14c7bc3ada4b761a515ee18847590e	We found nine cases of severe congenital anomalies: complex @PHENOTYPICFEATURE$, total congenital aganglionic megacolon, anal imperforation, @DISEASE$, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and cleft palate.	false
+fc3c095a7cc9d22cdf901986f0ef90599b2938d4	(1) Among the 40 cases, 15 (38%, 15/40) were diagnosed isolated ACC, while 25 (63%, 25/40) were non-isolated ACC.In the non-isolated ACC cases, 18 (72%) had central nervous system abnormalities, including cerebellar vermis hypoplasia,@DISEASE$, cerebellar cyst, holoprosencephaly, etc.Extra-CNS abnormalities were identified in 16 cases, including 5 @PHENOTYPICFEATURE$, 3 facial abnormalities, 2 congenital anomalies of urinary system, 1 limb skeletal abnormality and 5 other congenital anomalies.(2)	false
+320928faf3250e0c6e104cbeb61293df7f47b510	Three cases of @DISEASE$ associated with @PHENOTYPICFEATURE$ are reported, and their management is described.	false
+9855c62328e13dfbac431c295333fdd4802112b2	If the child with @DISEASE$ requires treatment by extracranial CSF drainage it is proposed that a ventriculo-peritoneal shunt is preferable when there is any suspicion of @PHENOTYPICFEATURE$.	false
+8f64fe2e33817e823fcc59c7204c2b5a7677337d	@DISEASE$ associated with @PHENOTYPICFEATURE$: report of three cases.	false
+803b19f335563e231f4d7f5d3b4a9326d9084e97	Another major age-related eye disease of the cornea that leads to vision impairment and potentially @PHENOTYPICFEATURE$ if left untreated is @DISEASE$.	false
+84de0ffead1db8ef38cf98aecfe3dae8cf177148	In addition, adult-onset @DISEASE$ (FECD) is associated with dominant @PHENOTYPICFEATURE$ in SLC4A11.	false
+bf4f28bf44d6b0de12dae773b0a3cc447beafb39	In addition, adult-onset Fuchs endothelial corneal dystrophy (@DISEASE$) is associated with dominant @PHENOTYPICFEATURE$ in SLC4A11.	false
+e19d2c81a9c32ec9cff1a21e03172108396d0b61	The capillary leak syndrome (@DISEASE$) is a rare condition characterized by the onset of hypotension, @PHENOTYPICFEATURE$, hemoconcentration and hypoalbuminemia.	false
+f6361313e616b15b3caf77f105fc728f25f37b87	Postoperative @PHENOTYPICFEATURE$ and effusion (POEE) following cardiopulmonary bypass (CPB) surgery in children retards recovery and may aggravate postpericardiotomy (PPS), capillary leak syndrome (@DISEASE$), or multiorgan failure (MOF).	false
+93c3e005c392ada884c5ff5235b30b8721181c28	Capillary leak syndrome (@DISEASE$) is characterized by hypoproteinemia, diffused pitting @PHENOTYPICFEATURE$, noncardiogenic pulmonary edema, and hypotension.	false
+fa0197df147fc2eafc56aa942aeac3e604705ce8	Chemical lumbar sympathectomy (@DISEASE$) is a commonly used, minimally invasive procedure for the treatment of conditions including ischemic diseases of the lower extremities, @PHENOTYPICFEATURE$, etc.	false
+d2e365da86c59f462c88fb890994b75f78d63093	The ratio can measure objectively the @PHENOTYPICFEATURE$ and the @DISEASE$ in PN.	false
+8afa0a1ef569ede70efcf0db0fd452e1897939f8	During the early stage of @DISEASE$, hydroxyethyl starch but not albumin should be used to alleviate @PHENOTYPICFEATURE$ and hypoalbuminemia.	false
+b609cb7f7d93b47907521c06ceb276855debcd70	In order to provide improved standards for measuring @PHENOTYPICFEATURE$ and for the definition of @DISEASE$, subcutaneous-thoracic ratios (S/T) were calculated from 821 anteroposterior supine chest radiographs of 119 PN with a birth weight below 1500 g.	false
+c5daddad25244879de69da237ee08f5ad1b6ffa6	Trabectedin was the only drug that led to a radiological response in this patient with @DISEASE$, despite being administered at 75% of the standard dose because of dose-limiting @PHENOTYPICFEATURE$, in line with more recent data demonstrating activity in translocated sarcomas.	false
+38cb467d7dae6bf7f92a295ca33a43f1f400f913	Primary pulmonary @DISEASE$ is a rare primary @PHENOTYPICFEATURE$.	false
+743ee888ff437a0962db15f55fdf437f97ed8ef1	We report the case of a 29-year-old Saudi woman of Arabian ethnicity with @DISEASE$ arising primarily from the ileum who presented with @PHENOTYPICFEATURE$, a palpable mass and incomplete intestinal obstruction.	false
+bfaf9ecfea747070e457e353f16751da80400d8a	@DISEASE$ (HHs) often cause pharmacoresistant epilepsy, incapacitating @PHENOTYPICFEATURE$, and cognitive decline.	false
+6a84e4374f6d99a80a658c9f9deb9ae566e75c82	@DISEASE$ (HHs) are benign lesions that cause medically refractory seizures, @PHENOTYPICFEATURE$, and endocrine dysfunction.	false
+78ce2d6589fe9a8a2d423e9f1136f611f8866f85	Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral @DISEASE$, and severe @PHENOTYPICFEATURE$.	false
+c19d00fa5d3725f92e2a4e28d926eba1ee96380e	The most common defect associated with a bifid epiglottis are anomalies of the hands and/or feet (90%) while the most dangerous and potentially lethal anomaly if not recognized and treated are @DISEASE$ and @PHENOTYPICFEATURE$ (50%).	false
+aeeb30c185dbcd07a99ed3e2b8b92d504bbf861c	Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, @DISEASE$, @PHENOTYPICFEATURE$, heart defects, and Hirschprung disease.	false
+ce511dfdb034c93960cf5c049a4c041fc69c581c	Patients with @DISEASE$ (HH) often have severe refractory epilepsy, incapacitating @PHENOTYPICFEATURE$, and cognitive decline.	false
+2b49613406b299a9bd9b091d3943039c6ef775a8	Von Meyenburg complexes is one of the @DISEASE$, characterized by bile duct @PHENOTYPICFEATURE$.	false
+179670c1b011aac6f5305c4d8d23702c125350ca	We also present the recent progress made in understanding the pathogenesis of and how this knowledge has influenced therapies for the 6 common cholangiopathies-primary biliary cirrhosis, primary sclerosing cholangitis, cystic fibrosis involving the liver, @PHENOTYPICFEATURE$, @DISEASE$, and cholangiocarcinoma-because the latest scientific progress in the field concerns these conditions.	false
+5d2c07b4a9059b42295097605a03d1ded37d883b	From March 1992 to September 2000, 87 patients suffering from benign liver tumor were included in this study: 48 patients with focal nodular hyperplasia (55%), 17 patients with liver cell adenoma (21%), 13 patients with hemangioma (15%), 3 patients with @PHENOTYPICFEATURE$ (3%), 3 patients with hydatid liver cysts (3%), 2 patients with adult @DISEASE$ (APLD) (2%), and 1 patient with liver cystadenoma (1%).	false
+5375a526a8f0238710ad3c48a95d67b622720ce4	This article focuses on a subgroup of craniofacial dysmorphologies, covering these three main inheritance patterns, that are being studied using molecular biology techniques: DiGeorge syndrome, Treacher Collins syndrome, @DISEASE$, acrocallosal syndrome, amelogenesis imperfecta, and X-linked @PHENOTYPICFEATURE$ with ankyloglossia.	false
+720c894fdcdb8bb4a2f540fedd28b76c0b9fe91e	The common symptom of pediatric @DISEASE$ was productive cough and significant @PHENOTYPICFEATURE$.	false
+56c87c1c8a6bed8625f20f972ee0d4776800e69e	Sixty percent of the @DISEASE$ patients had mild @PHENOTYPICFEATURE$ syndrome in home sleep testing.	false
+27a1a0b08579533bd538a8a515f831ed9a9de365	The key clinical features of unexplained neonatal respiratory distress, early onset @PHENOTYPICFEATURE$, situs inversus and a productive cough are highlighted, which, especially when occurring in combination, makes early referral for specific testing for @DISEASE$ mandatory.	false
+e46d9d6a99a9f74b6117df955b9ae8f79a8ea01c	Some @DISEASE$ patients also have cerebral ventriculomegaly or @PHENOTYPICFEATURE$.	false
+e8c98f5f624ec4d81b9b878fdb848920a9990f3c	Homozygous mice have @DISEASE$ characterized by @PHENOTYPICFEATURE$, male infertility, and mucus accumulation.	false
+6588561d72f055d9bcd326c3b5fb6372146a6ec9	These results suggest that genetic modifiers play an important role in susceptibility to severe @DISEASE$-associated @PHENOTYPICFEATURE$.	false
+abf68996e3f864df2e4f313f8f668c56796ac29a	Other complications associated with @DISEASE$ include congenital heart disease, @PHENOTYPICFEATURE$ and infertility.	false
+4ee77966b163fc5e3d5c00606711b7464b00b045	@DISEASE$ is an uncommon disease that may manifest initially as posterior cranial fossa hypertension and subsequent acute @PHENOTYPICFEATURE$ owing to diffuse cerebellar swelling.	false
+db04734b282cf1269c7b7555cd3022be46f5e0fa	Mutant mice lacking Lrrc6 show typical @DISEASE$ defects such as @PHENOTYPICFEATURE$ and laterality defects.	false
+7714f97a7ec2c1bde6ed08cde53c906e273cc0e1	Primary ciliary dyskinesia (@DISEASE$) with associated bronchopneumonia, bronchiectasis, and @PHENOTYPICFEATURE$ in a dog.	false
+bd2afe55e707284e203e02b903883cc722da6491	In the multiple Cox model, the @DISEASE$ was proven to be a powerful classifier independent of age at diagnosis or @PHENOTYPICFEATURE$ size (p?<??0.001).	false
+63a28bf13bb141590dc15ac8c9249a2d3331f648	@DISEASE$ (RRS) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+6e00ca7fe30c75c6bdf051705e0fe79653066a35	Autosomal recessive Robinow syndrome (@DISEASE$) is a severe @PHENOTYPICFEATURE$ with short stature, generalized limb shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance.	false
+e95bcbff711a23991bc98915d715239ba204d532	In addition to BDB1, mutations in the gene ROR2 also cause a more severe form of @PHENOTYPICFEATURE$, @DISEASE$.	false
+b51f5f214054bb7b99e0a84ef3d01fb078ea9b85	The cytotoxic effect of the serum of resistant rats (@DISEASE$) against AH-64A @PHENOTYPICFEATURE$ cells was not reduced after absorption with normal rat liver cells, but was slightly reduced after absorption with normal rat spleen cells.	false
+d2aeee47f60f433505b6584e5346164d94c66f94	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (@DISEASE$), a severe @PHENOTYPICFEATURE$ with limb shortening, brachydactyly, and a dysmorphic facial appearance.	false
+58fd0ef1fa1ac333683d57a370eebd3e851ea780	Mutations in ROR2, encoding a receptor tyrosine kinase, can cause @DISEASE$ (RRS), a severe @PHENOTYPICFEATURE$ with limb shortening, brachydactyly, and a dysmorphic facial appearance.	false
+3daa78d1a334f4ce76a042ee96f84ed6161fdecb	The autosomal recessive form of Robinow syndrome (@DISEASE$; MIM 268310) is a severe @PHENOTYPICFEATURE$ with generalized limb bone shortening, segmental defects of the spine, brachydactyly and a dysmorphic facial appearance.	false
+a93286d097af432c1117e66ebcb1f2c64354e0bc	A neutralization test was carried out by treating 2 times 10(5) @PHENOTYPICFEATURE$ cell with either @DISEASE$ or immune spleen cell in vitro and then injecting them subcutaneously into irradiated rats (400 R).	false
+e7ddb8ae7206d328a09ff041ac03f9bda71d42eb	It was found that 1:20 dilution of RRS protected the rats against AH-64A @PHENOTYPICFEATURE$ cell growth while 1:40 and 1:80 dilutions of @DISEASE$ caused some protection.	false
+cf5e164b2477332c5e2407a2f5fb4531c7b6f044	These findings suggest that inner @PHENOTYPICFEATURE$ are frequent but nonobligatory features of @DISEASE$ syndrome.	false
+5525f6c5f12817fa34917641009821132c5e3d9a	This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the @DISEASE$ syndrome as well as individuals with branchial and @PHENOTYPICFEATURE$ who have apparently normal kidneys.	false
+18a5f4ec5edff3617bca1b050880788de2a22496	The major features of the Branchio-Oto-Renal syndrome (@DISEASE$ syndrome), an autosomal dominant disorder, are branchial remnants, @PHENOTYPICFEATURE$, deafness and renal dysplasia.	false
+da6490eab9827abe3a249cf3bdae3dffbaa67f0a	The 2 sisters showed characteristic clinical features of @DISEASE$ (middle and inner @PHENOTYPICFEATURE$, microtia, and auditory canal stenosis/atresia).	false
+4837870c77eeb6687cf49c0fefb3191f94968721	This case is presented to increase awareness among general practitioners to consider @DISEASE$ syndrome or other renal abnormalities in patients with branchial fistula and/ or external @PHENOTYPICFEATURE$ or similar findings in other family members.	false
+910b0e172a1ccd29b6e6cafdecfea4a4f2309d16	The family on which this report is based is of interest because it contains individuals with the branchio-oto-renal (@DISEASE$) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; only branchial and @PHENOTYPICFEATURE$; and apparent nonpenetrance of the syndrome.	false
+9b1b2f8c578e91b213f1858d0948faabbe0f1d68	However, in patients with a branchial fistula associated with external @PHENOTYPICFEATURE$ on physical examination and/or a history of hearing loss and a similar history and findings in other family members, an additional workup should be performed to eliminate the possibility of @DISEASE$ syndrome.	false
+bebecab46f18d7253f7df7f9b399528e02210532	Early results of a physiotherapist-delivered Ponseti service for the management of idiopathic @DISEASE$ @PHENOTYPICFEATURE$.	false
+0df5cdfcc5d6542ba1d975628c41ac01de73efe1	There was associated bilateral @PHENOTYPICFEATURE$ in the form of congenital @DISEASE$.	false
+eee2adbbd99b63de5c2b9fdbf9e923966a86a31f	Anomaly of tail, anal atresia, @DISEASE$, omphalocele, deformity of the vertebral column, defect of the ribs and anophthalmia or @PHENOTYPICFEATURE$ were predominantly observed.	false
+b7ba3796408287e165e9e40c939a309e7618fb33	Congenital @DISEASE$ is the most frequent @PHENOTYPICFEATURE$.	false
+3fdd115b885c9c4b90f3806cad0d8d6c15ae17e2	The most frequent @PHENOTYPICFEATURE$ is flatfoot, congenital @DISEASE$ and hallux valgus.	false
+b5805f0308899188b19a0ec8f292217875a4d10c	Exposure increased the fetal malformations, namely, hydrocephaly, open eyelids, @PHENOTYPICFEATURE$, exophthalmia, @DISEASE$, umbilical hernia, and skeletal anomalies.	false
+6b4ee644a96283adb3c4bff3f57ebf608c8c3644	The other most common anomalies associated with cases with DS were syndactyly, @DISEASE$, polydactyly, limb reduction, @PHENOTYPICFEATURE$, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia.	false
+4cc667f9a017574a1830657ebebcaa9e8de20b4d	The following malformations were observed in survivors: reduced body size and organs; @PHENOTYPICFEATURE$; micromelia; everted viscera; abnormal and twisted neck, beak and spinal cord; isolated epicarditis; @DISEASE$; haemorrhage; and patchy feathers.	false
+a60bb860fcdfd9b6e8f0233b8cf4fb1306d54668	An abnormal phenotype was seen in 7% of the newborns, but only 3 cases with major malformation (cleft lip, @DISEASE$, @PHENOTYPICFEATURE$) could be noted.	false
+e48131aa3bb01efde44d09e51a00cf3f8b42f35f	Congenital Talipes Equinovarus (CTEV), or @DISEASE$, is a common congenital orthopaedic @PHENOTYPICFEATURE$, which is easily diagnosed but difficult to treat perfectly.	false
+610be09e67bf77f5491b35c3c08b41556c1a283b	These results suggest that by screening young children with @DISEASE$ who either had @PHENOTYPICFEATURE$ at the onset or showed a rapid progression of paralysis, the number of cases of AFP requiring investigation can be reduced by one half, with minimal compromise in the sensitivity of confirmed poliomyelitis case detection.	false
+8f860b8fd772d0b029f1a4413a81e4fc6650342c	Urine samples from children with congenital or infantile @PHENOTYPICFEATURE$, and age and sex-matched controls, were analysed for (i) inherited @DISEASE$ of metabolism, (ii) paper chromatography of sugars, (iii) spectrophotometric assay of glycosaminoglycans (GAG), (iv) cetyl trimethyl ammonium bromide test, (v) electrophoresis using Alcian blue, (vi) ion exchange chromatography with IR 120 resin, and (vii) HPLC for xylose.	false
+22054d4a30a9837f1221862ae4e9cadca0a98fc3	The infant presented with @DISEASE$ hyperkalemia, neonatal hyperbilirubinemia, @PHENOTYPICFEATURE$, hepatic dysfunction, and microcephaly.	false
+b75df5339c04c44935ff49c205da8ed6fa04ef70	[Identification of inborn @DISEASE$ of galactose metabolism in patients with @PHENOTYPICFEATURE$].	false
+95da77ec6c19dc52d339a16f396db6cddcd7bd25	Galactokinase deficiency is an inborn @DISEASE$ of galactose metabolism whose major clinical manifestation is the development of @PHENOTYPICFEATURE$ during the first months of life.	false
+8c6e2fa8ea18b15d2a2365dacdde516f773872c2	In addition to measurement @DISEASE$, individual anatomical conditions could be made responsible for unexpected prediction errors in the determination of the correct intraocular lens power for @PHENOTYPICFEATURE$ surgery.	false
+58080ebad58765d449c5fcf59d493243a6831eb3	This is the first documented report of an inborn @DISEASE$ of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or @PHENOTYPICFEATURE$ and connective tissue disease.	false
+f385d1ebcf8b6eeec432db140111bbda471b8b0a	The clinical features - postulated by Bainbridge et al. to be overlapping with @DISEASE$ - were developmental delay, severe feeding difficulties, failure to thrive and @PHENOTYPICFEATURE$.	false
+f94677f0daed26a9ae98589e7285e41f76dc3b5d	The MR detection of the two types of cerebral cortical dysplasia with characteristic distribution and @PHENOTYPICFEATURE$ is helpful in the differential and early diagnosis of @DISEASE$.	false
+71d52a2601200a29fedf01261ade340e479938ed	Among 45 patients with midbrain-hindbrain malformations, 16 cases of molar tooth malformation, 12 of cerebellar hypoplasia, ten of posterior fossa cyst and @PHENOTYPICFEATURE$, three of rhombencephalosynapsis, two of @DISEASE$ and two cases of isolated cerebellar dysplasia were identified.	false
+9ec2516187c8549db49500496df825ca63b72374	To determine the MR appearance of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5e87cd9e73f606fc844083f3602892a8632c9fa3	One is associated with MYCN single-@DISEASE$ @PHENOTYPICFEATURE$ and maps distal on 1p36.3.	false
+646ee58ce7cdf96a6808cfa6e031f9fd7538e6d1	@DISEASE$ deficiency started at a young age causes @PHENOTYPICFEATURE$.	false
+2c84da2b3ed0f08760808dc770f672811a6ef328	The number of @DISEASE$ number abnormalities does not correlate with the latency or pathology of the @PHENOTYPICFEATURE$.	false
+746c21b9deff7ffca00781b0dbd3f15225aa7f08	A patient with @DISEASE$ deficiency and @PHENOTYPICFEATURE$ was suffering from pancytopenia.	false
+6d5fd4fdf0ce82eef60b0d9e93b50c05af411692	The average number of @DISEASE$ number abnormalities in individual @PHENOTYPICFEATURE$ was 76 (range 1-318).	false
+b23554ab631fee29909d1e4875a6411f81adbbdc	@DISEASE$ deficiency induced by tetrathiomolybdate suppresses @PHENOTYPICFEATURE$ growth and angiogenesis.	false
+7d9c0a6f3aabfd62a64b03e58cacbf83b9d7f90a	Molecular study on @DISEASE$-mediated @PHENOTYPICFEATURE$ proteasome inhibition and cell death.	false
+43c910ae2ecc025153c70798f131b8b4e450674c	Short-term dietary @DISEASE$ deficiency does not inhibit angiogenesis in @PHENOTYPICFEATURE$ implanted in striated muscle.	false
+713f91df2b070292faefc9eca233c29a702caf66	Additionally, it has been demonstrated that @DISEASE$ affects @PHENOTYPICFEATURE$ growth and promotes metastasis.	false
+1a2850e58810cbe6efd81e9f798329a5cf534e94	A total of 223 genes were significantly differentially expressed between MYCN-amplified and single-@DISEASE$ @PHENOTYPICFEATURE$.	false
+4d3ac4a0d50d35c6fcf5be3c712c47065f782fcd	@PHENOTYPICFEATURE$ @DISEASE$ is equally observed in men and women with predominance in the third and fourth decades.	false
+44e43a1bbf320a0a7c2191966965ddeea4e7ddbc	Among 13 patients with chronic @PHENOTYPICFEATURE$ of the lower jaw, clinical, radiologic and histologic difficulties were encountered in 5 cases, in the differential diagnosis from @DISEASE$.	false
+0620d7ef997a9582ebb85922467a42e96682f592	@PHENOTYPICFEATURE$ @DISEASE$ is a benign lesion which diagnosis is based on microscopic features.	false
+cd8e4bb916a15cb6fe434fdb95979b1e9816f1b1	A patient with @DISEASE$ (APL) and laboratory evidence of fibrinolysis who could not be treated with aggressive cytostatic regimens because of Aspergillus @PHENOTYPICFEATURE$ was treated with cis-retinoic acid (RA), a substance that can induce differentiation and maturation of APL cells.	false
+67db067a3213baf93e9b0467015a95f28f2e731b	Retinoic acid as antileukemic therapy in a patient with @DISEASE$ and Aspergillus @PHENOTYPICFEATURE$.	false
+fd2ddc243289fb23fc7e056712605e5b6d85acbd	Laronidase (Aldurazyme) is a recombinant formulation of alpha-L-iduronidase, the enzyme deficient in @DISEASE$ (MPS-I); a disorder associated with @PHENOTYPICFEATURE$, restricted joint movement, short stature, obstructive pulmonary disease, cardiac valvular problems and cognitive impairment (in the severe and intermediate variants).	false
+0066f23046d4329cd0ba842d93f9f621dea93b87	@PHENOTYPICFEATURE$ was diagnosed in an 11-mo-old male domestic shorthair cat from a colony with @DISEASE$ lysosomal storage disease.	false
+bf2b8634d0d7829f70042c236d9d00083166529a	@PHENOTYPICFEATURE$ and mongolian spots in @DISEASE$.	false
+dc8db4edfe159cf2f7aab599491deae177b6bf11	Fourteen patients with cognitive decline (six with mild @PHENOTYPICFEATURE$ and eight with Alzheimer's disease) underwent three @DISEASE$ applications per week to both the cerebral cortex and auricular-specific sites for a total of 5 weeks.	false
+8419a52b3d9669d2eeb6cec724913e9834061076	We report on a child of a diabetic mother with this unusual form of hallucal @PHENOTYPICFEATURE$, together with other skeletal anomalies, confirming that this malformation is a useful clinical marker for the diagnosis of @DISEASE$.	false
+b93ea9f5cc896151eae2976bdccdc48236e3c69f	The following outcome measures were extracted: neck disability index (NDI), visual analog scale (VAS) neck, VAS arm, Short Form (SF)-12 mental component summary (MCS), SF-12 physical component summary (PCS), overall clinical success (@DISEASE$), patient satisfaction (PS), device-related adverse event (DRAE), subsequent surgical intervention (SSI), @PHENOTYPICFEATURE$ (ND), and adjacent segment degeneration (ASD).	false
+95f1dcfcfc5498f15d8f686007551244885b758f	The first aim was to determine the prevalence, kind, and functional effects on hearing of ossicular chain suffering (@DISEASE$) in chronic otitis without @PHENOTYPICFEATURE$ (NCOM) and tympanic perforations (TP).	false
+8183e2d0aba8c87030018a320892dc7ef0f463f6	This study recruited 14 @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+01e0dff7caded32bcbaa9274e79dc2fcce7773e1	To investigate the characteristics of @PHENOTYPICFEATURE$ in patients with auditory neuropathy spec- trum disorder (@DISEASE$).	false
+cc6a200bfc3dde998d47d3812dd09f25d3c54ad4	To investigate the characteristics of @PHENOTYPICFEATURE$ in patients with @DISEASE$ spec- trum disorder (ANSD).	false
+d48fb8a65891e36ddce72e6a0245b5b7313a2591	The study aimed at understanding the psychoacoustic characteristics of @PHENOTYPICFEATURE$ in individuals with @DISEASE$ (ANSD).	false
+7e1fab074d8fcbd7746e37a38ef600f6790271a8	The study aimed at understanding the psychoacoustic characteristics of @PHENOTYPICFEATURE$ in individuals with auditory neuropathy spectrum disorder (@DISEASE$).	false
+4135e4159638b4a1977325e172db418ec41b8dd2	Brain stem and @PHENOTYPICFEATURE$ in children with @DISEASE$ and cochlear nerve deficiency.	false
+b31a6070bc2b8ad4deca87f13c355390e55d6224	Our study attempted to determine if @PHENOTYPICFEATURE$ is a major concern in individuals with @DISEASE$ (ANSD).	false
+865495e74eb1c6ceb59c3af5b3cc1755da4fc07f	Our study attempted to determine if @PHENOTYPICFEATURE$ is a major concern in individuals with auditory neuropathy spectrum disorder (@DISEASE$).	false
+3a96ae1f03d231a858d0ff17f0aceaca1e3f74d0	Transient @PHENOTYPICFEATURE$ due to temperature-sensitive @DISEASE$.	false
+d722dd27a183bbcae653404a3a7497971bca71cd	Our observations indicate a potential connection between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1b3ef30e924ee3d9fdd426c927220241bb893e17	@DISEASE$ patients without @PHENOTYPICFEATURE$ implanted with unilateral or bilateral CI between 1998 and 2010.	false
+4551d94f664b3978cd4762e33dea95f951d00e0d	Early and accurate identification of birth asphyxia, hyperbilirubinemia, @DISEASE$ Presbyacusis and avoiding noise pollution and discouraging use of mobile phone, tobacco chewing/smoking, in those who are prone to deafness, an intervention is a must to decrease @PHENOTYPICFEATURE$ from our society.	false
+5a08afc26939058abf511273d0180d1e6949b6d1	Early and accurate identification of birth asphyxia, @PHENOTYPICFEATURE$, @DISEASE$ Presbyacusis and avoiding noise pollution and discouraging use of mobile phone, tobacco chewing/smoking, in those who are prone to deafness, an intervention is a must to decrease deafness from our society.	false
+c9ef5a094fcde0d78703f3d84ef626c4c9ee4aa8	Early and accurate identification of birth asphyxia, hyperbilirubinemia, @DISEASE$ Presbyacusis and avoiding noise pollution and discouraging use of mobile phone, tobacco chewing/smoking, in those who are prone to @PHENOTYPICFEATURE$, an intervention is a must to decrease deafness from our society.	false
+ff72c92d430179e26a5165888dfd7adfcdbbdc73	[Analysis of characteristics of @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+32a250f264b955cceab328a90c5396469519a6db	Vigabatrin reduced the @PHENOTYPICFEATURE$ frequency ?2.9 (@DISEASE$.2) (56% decline) and 3.0 (SD, 5.3) (54.5% decline) per day after three and six months of treatment, respectively.	false
+e47af8ff310baf3583ca4a184d86f8445d2df6f6	Vigabatrin reduced the @PHENOTYPICFEATURE$ frequency ?2.9 (SD, 5.2) (56% decline) and 3.0 (@DISEASE$.3) (54.5% decline) per day after three and six months of treatment, respectively.	false
+c54d91f7fb3ba2f12045ad793c6973c24c07016c	The mean daily frequency of seizures at baseline was 6.61 (@DISEASE$.9) @PHENOTYPICFEATURE$ per day.	false
+e2b6a9206a74287e62451c8f2fc5afcdc9d7d010	The mean daily frequency of @PHENOTYPICFEATURE$ at baseline was 6.61 (@DISEASE$.9) seizures per day.	false
+f4885b7cc1f291e80b387cce93d72d1be0a92115	Percentage grade 4 @PHENOTYPICFEATURE$ predicts outcome for @DISEASE$.	false
+83c6245304cc02307fe0b08efff0e8773627133d	Intratumor molecular heterogeneity has been reported for primary @DISEASE$ (ccRCC) @PHENOTYPICFEATURE$; however, heterogeneity in metastatic ccRCC tumors has not been explored.	false
+722a464c128a98989a98f001459ff85820d19a19	Intratumor molecular heterogeneity has been reported for primary clear cell renal cell carcinoma (@DISEASE$) @PHENOTYPICFEATURE$; however, heterogeneity in metastatic ccRCC tumors has not been explored.	false
+3b9712ab1cfb50d224b5b541b399aa311fa4a5e9	Intratumor molecular heterogeneity has been reported for primary clear cell renal cell carcinoma (ccRCC) tumors; however, heterogeneity in metastatic @DISEASE$ @PHENOTYPICFEATURE$ has not been explored.	false
+dcc70564df74f0f8d4c346dd95b89b920c5a1c23	Intratumor molecular heterogeneity has been reported for primary @DISEASE$ (ccRCC) tumors; however, heterogeneity in metastatic ccRCC @PHENOTYPICFEATURE$ has not been explored.	false
+e886f68328e9e23cbb9b76907737cc4204648829	Intratumor molecular heterogeneity has been reported for primary clear cell renal cell carcinoma (@DISEASE$) tumors; however, heterogeneity in metastatic ccRCC @PHENOTYPICFEATURE$ has not been explored.	false
+5fef4291efe7388c80475d849e0157a191be3c32	Intratumor molecular heterogeneity has been reported for primary clear cell renal cell carcinoma (ccRCC) @PHENOTYPICFEATURE$; however, heterogeneity in metastatic @DISEASE$ tumors has not been explored.	false
+896a8035ca53e1e53094b8e7b6a89461ea2febd4	We confirmed the downregulation of miR-10b in @DISEASE$ @PHENOTYPICFEATURE$.	false
+59b0c29ca3362a7c556f68f166ffa1b6b7de7280	Primary ccRCC @PHENOTYPICFEATURE$ with lower SUV base are more likely to respond to neoadjuvant sorafenib, whereas this trend was not observed for non-@DISEASE$ tumors.	false
+4edfc2dbc0ccfb1eacafdaaf727ed7320a8b1b79	Primary ccRCC tumors with lower SUV base are more likely to respond to neoadjuvant sorafenib, whereas this trend was not observed for non-@DISEASE$ @PHENOTYPICFEATURE$.	false
+ab6fd7b0df501ec56b7730aceff728ff3c06b773	Primary @DISEASE$ @PHENOTYPICFEATURE$ with lower SUV base are more likely to respond to neoadjuvant sorafenib, whereas this trend was not observed for non-ccRCC tumors.	false
+1ee0c153286a940d3191c5c2fdcb34c7536f276f	Primary @DISEASE$ tumors with lower SUV base are more likely to respond to neoadjuvant sorafenib, whereas this trend was not observed for non-ccRCC @PHENOTYPICFEATURE$.	false
+e9871b4b4d63d6c21bf13b50393c4b804edf9b28	mRNA expression in @DISEASE$ @PHENOTYPICFEATURE$ was detected.	false
+7f0ffe2fd071da1f6d393d462844641e52a9657a	@PHENOTYPICFEATURE$ infiltrating lymphocytes in @DISEASE$.	false
+3433d670080839757f4357f58c8acbb22ddf1a6f	IHC detected widespread ITH in @DISEASE$ @PHENOTYPICFEATURE$.	false
+73fc848086d5558c22b4bfde28179b5e568111e7	Tissue microarrays from 98 @DISEASE$ @PHENOTYPICFEATURE$ were analysed.	false
+23d97176f2ad88749f726aedb24123e8af50b6e8	PPAR? has prognostic significance only in @DISEASE$ @PHENOTYPICFEATURE$.	false
+41860538c733a3991c00ce5a4b0c67a9070b41d8	In conclusion, PPAR? expression was decreased in @DISEASE$ @PHENOTYPICFEATURE$.	false
+1c1c06e4cd33e1617efdaa78c11ab2f6935df8b3	The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II @DISEASE$, @PHENOTYPICFEATURE$, and retinal malformation.	false
+4a0d1541ca03918f77de648234365e3f75726795	The presence of short stature, symmetrical hip dysplasia and abnormal vertebral bodies should raise the suspicion of a @PHENOTYPICFEATURE$, specifically @DISEASE$.	false
+3ab6d78642b8e7201a89188404c144cf6e94b63e	Diagnoses included Morquio syndrome (6), @DISEASE$ (9), @PHENOTYPICFEATURE$ (5), metatropic dysplasia (3), and Kniest syndrome (1).	false
+0a4968f4948b2f7f83b3125835a12abfa55a8a5a	We describe a family with progressive @PHENOTYPICFEATURE$ and severe spinal involvement, short stature, premature arthrosis and joint contractures diagnosed as @DISEASE$ Omani type.	false
+e48f47ab5b16323bff0ccb998c8c4bda2632ebf6	Non-ophthalmologic findings include @PHENOTYPICFEATURE$, midfacial hypoplasia, radiographic changes of @DISEASE$, narrow pelvis, and broad femoral neck.	false
+7a6208e93ba56a89932ffe250bc4690e525e2d47	The charts of 25 patients with skeletal dysplasia (@DISEASE$, @PHENOTYPICFEATURE$, pseudoachondroplasia, Morquio, or Kniest) who had undergone cervical arthrodesis to treat instability were reviewed for evidence of fusion, neurologic improvement, and complications.	false
+c3a20a07d5ad2b58b1a844ec37bb02dd9f341810	The charts of 25 patients with @PHENOTYPICFEATURE$ (@DISEASE$, spondyloepimetaphyseal dysplasia, pseudoachondroplasia, Morquio, or Kniest) who had undergone cervical arthrodesis to treat instability were reviewed for evidence of fusion, neurologic improvement, and complications.	false
+a260729482511526ad706c81ea712effebf17241	@DISEASE$ (SED) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by short stature, abnormal epiphyses and flattened vertebral bodies.	false
+b4c78fd535a009ce68e2023d71833b39727ccacb	@DISEASE$ (SED), Omani type (OMIM 608637) is a recessively inherited @PHENOTYPICFEATURE$ previously described in two distantly related families from the Republic of Oman.	false
+4ae36fc8396b7f63256b4e210476ad9c326d3aeb	@DISEASE$ (SED) Maroteaux type is an autosomal dominant @PHENOTYPICFEATURE$, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like brachydactyly.	false
+d4926020dfb663b5f8fc86f5cfa9f65e7c022153	Previously undescribed @DISEASE$ associated with craniosynostosis, cataracts, @PHENOTYPICFEATURE$, and mental retardation: report of four sibs.	false
+84fc704da803863d117af2c0e841bfe956e883ab	Mutations in ACAN result in a broad phenotypic spectrum of non-lethal skeletal dysplasias including @PHENOTYPICFEATURE$, @DISEASE$, familial osteochondritis dissecans and various undefined short stature syndromes associated with accelerated bone maturation.	false
+ef8d16f60712e553336952411da367b7af5db9cc	A 60-year-old man with nephrotic syndrome and @PHENOTYPICFEATURE$ was found to have a @DISEASE$-lambda myeloma.	false
+7bb862d258f7fbb33b092287768fe6b86a92ed29	A 21-year old male patient with isolated @PHENOTYPICFEATURE$ (@DISEASE$) is described.	false
+9ff5acc5f47f94914e5326d41a31a590165ee809	Severe @PHENOTYPICFEATURE$ was associated with advanced myeloma stage and light-chain/@DISEASE$ paraproteinaemia.	false
+358f3a22f563a2b1d2d09745172d974048963c89	@PHENOTYPICFEATURE$ (@DISEASE$) and constitutional delayed puberty (DP) share a common pathophysiologic process, i.e.	false
+7c335f03dd6dda6b8fda3741fbcca9a22c0d6bb4	[Maintenance hemodialysis in @DISEASE$- lambda -type multiple myeloma associated with severe @PHENOTYPICFEATURE$].	false
+ce3071bf7e5dd944fdca42610e5def2069242406	More than 50% of patients with @DISEASE$ had arthralgia or @PHENOTYPICFEATURE$, and less commonly other rheumatic disorders.	false
+b53df18097022998f8e8e13535c53ef2076955e2	Unilateral hyperhidrosis associated with intrathoracic @DISEASE$ lambda myelomatous @PHENOTYPICFEATURE$.	false
+3c2c7d8afe4866eab3b47ca355eb74fd2a398abc	We herein report a case of @DISEASE$ myeloma presenting with @PHENOTYPICFEATURE$ and bicytopenia.	false
+e936fc66d954ab0b3e39984d1d70d9622ccc6537	Male patients with @PHENOTYPICFEATURE$ (@DISEASE$, n = 6), constitutional delayed puberty (DP, n = 6), and Klinefelter's syndrome (KS, n = 5) before and during testosterone replacement therapy were studied.	false
+948e340290e5127525048dd87faddda0d013a4f0	We found that @DISEASE$ myeloma was associated with higher frequencies of anaemia, @PHENOTYPICFEATURE$, and hypercalcemia and higher levels of serum LDH compared with non-IgD myeloma.	false
+980963c9749b790fad413705a680669641766817	We found that IgD myeloma was associated with higher frequencies of anaemia, @PHENOTYPICFEATURE$, and hypercalcemia and higher levels of serum LDH compared with non-@DISEASE$ myeloma.	false
+c77d1a8e61e6d6c0b04f2a4453aca1360c5602fb	The @DISEASE$ (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb @PHENOTYPICFEATURE$ loss, and other organ system involvement.	false
+0eab6796dde617e716dc85e9a58893bea493c4c8	Cornelia de Lange syndrome (CdLS; or @DISEASE$) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, @PHENOTYPICFEATURE$ and limb anomalies.	false
+41cdb70daff992a54f4377e20dbc222451d1f2a8	@DISEASE$ (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, @PHENOTYPICFEATURE$ and limb anomalies.	false
+e92572e11195c83c7f8f52c83192d7c964743a01	@DISEASE$: Ventricular size and function in six children without @PHENOTYPICFEATURE$.	false
+87b38a563aca9806c2a807260ed2767d31ee6c1c	Analysis of @PHENOTYPICFEATURE$ in 87 consecutive patients with @DISEASE$.	false
+b9103d4ddaaa28caf1bb8d971b6ceed6e7b2cd6e	@DISEASE$ (CDLS) is characterized by mental @PHENOTYPICFEATURE$ retardation, skeletal anomalies, and a characteristic facies.	false
+47d6b1ab3b52d8c3e1d26a1dffb96a3be97b1d2a	@PHENOTYPICFEATURE$ (CHDs) have been estimated to occur in approximately 20% of patients with @DISEASE$ (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470).	false
+8957c79218e7d96a2153fa91323d42a0c60cf555	@PHENOTYPICFEATURE$ (CHDs) have been estimated to occur in approximately 20% of patients with Brachmann-de Lange syndrome (BDLS, also known as @DISEASE$, OMIM 122470).	false
+a7dea500294568e97712e98abb20e6d5debc811b	@DISEASE$ (CdLS) is characterized by distinct facial features, @PHENOTYPICFEATURE$, upper limb reduction defects, hirsutism, and intellectual disability.	false
+6b91d6bf96480ff02002129d5d585c2151f8f22a	@DISEASE$ (CdLS) is a cohesinopathy, which is characterized by multiple structural anomalies as well as mental and @PHENOTYPICFEATURE$.	false
+3cb6bbf991cfd378ea575e74e71d5c510c2edc13	@DISEASE$ (CdLS) is a rare multisystemic congenital anomaly disorder that is characterised by intellectual disability and @PHENOTYPICFEATURE$, congenital heart defects, intestinal anomalies, facial dysmorphism (including synophyris and high arched eyebrows) and limb reduction defects.	false
+5c9314a456d9f3ee76c6efaf24c28cf992a6fc2d	@DISEASE$ (CdLS) is a rare multisystemic congenital anomaly disorder that is characterised by intellectual disability and growth retardation, @PHENOTYPICFEATURE$, intestinal anomalies, facial dysmorphism (including synophyris and high arched eyebrows) and limb reduction defects.	false
+ea4f55fecce15547be9178444b4e0da94f7e0189	@DISEASE$ (CdLS; OMIM #122470) is a multiple congenital anomaly with characteristic facial features, @PHENOTYPICFEATURE$, mental retardation, limb defects, behavioral problems, ocular and hearing impairments, and gastrointestinal or cardiac abnormalities.	false
+248acee0126f04780c27c44bddb2639575559800	@DISEASE$ (CdLS; OMIM #122470) is a multiple congenital anomaly with characteristic facial features, growth delay, mental retardation, limb defects, behavioral problems, ocular and hearing impairments, and gastrointestinal or @PHENOTYPICFEATURE$.	false
+a70d6b9d8aaa25dad5bc1a8c8df6926aa4610fd5	Chronic metabolic acidosis results in @DISEASE$, calcium nephrolithiasis, and @PHENOTYPICFEATURE$.	false
+84baa232bacfd54ab3f091462d7284e818250a69	ARPTH is a new syndrome characterized by nonacidotic proximal tubulopathy, hypercalciuria, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+0e216d395804956a3fbb2f6badf93d597a29dc5b	@DISEASE$ after gastric bypass surgery for @PHENOTYPICFEATURE$.	false
+8ea960b723afbd0574fbf470397687845cc4fcc8	@PHENOTYPICFEATURE$ and @DISEASE$: insights into the relationship between bone and sleep.	false
+f4f43948156d628a23639eed00ead7b3ccc53f8b	@DISEASE$ and @PHENOTYPICFEATURE$ are common complications of chronic renal failure (CRF).	false
+9bdaa868fa739e5ebf00509fb5915e1ed89f0387	Primary distal renal tubular acidosis is a clinical disorder characterized by hyperchloremic metabolic acidosis, hypercalciuria, hypocitraturia, urinary acidification impairment, @PHENOTYPICFEATURE$, @DISEASE$, and nephrocalcinosis.	false
+30af7c75f7095ddd390b781a37f9a17c7c6c4f7a	Senile @PHENOTYPICFEATURE$ and @DISEASE$.	false
+02d6927fca1a644a03fc5e4ffb5ccd32c44d39a9	Skeletal fluorosis is a chronically @DISEASE$ with extensive hyperostosis @PHENOTYPICFEATURE$ caused by long time exposure to fluoride.	false
+db01770084ca80ca93fa21181d4ab4a85cb517f3	Two children had a history of @PHENOTYPICFEATURE$ and radiological findings of @DISEASE$.	false
+3b885abb77c515b85fc11f90aaee489acc6fbaba	Our excluding criteria were patients with @PHENOTYPICFEATURE$ and patients with past history of cancer and @DISEASE$.	false
+cc96e7cc6847fe4fd25c7b760e3eb976b86feab1	@PHENOTYPICFEATURE$ and Fuhrman grade in patients with @DISEASE$ treated surgically.	false
+3584aef232ccad8323e4e2c8d82b61431622ea12	Somatic expression of ENRAGE is associated with @PHENOTYPICFEATURE$ status among patients with @DISEASE$.	false
+b4a7a7d815ee9dc678eec631818b61e0cf7fec97	MicroRNA profiling in @DISEASE$ tissues potentially links tumorigenesis and recurrence with @PHENOTYPICFEATURE$.	false
+a7eeec5e6d83877f78b6b16285f53c2fd27c7d28	An association between @PHENOTYPICFEATURE$ and development of @DISEASE$ (ccRCC) has been established in the literature; however, there are limited data regarding the molecular mechanisms that underlie this association.	false
+8245297a0f647b9c18d40741f37db006a9c341cd	We assessed the prognostic significance of @PHENOTYPICFEATURE$ in relation to sex in patients with nonmetastatic @DISEASE$ (nm-cRCC) in a large multicenter setting in Korea.	false
+521b84699702e9c5dcb3cdb6f428aa1ce80bb137	Circulating @PHENOTYPICFEATURE$-driven biomarkers are associated with risk of @DISEASE$: a two-stage, case-control study.	false
+bdf1ef57197d17233ee9412ca1531a92f8139c25	Here, we demonstrate that fat mass and @PHENOTYPICFEATURE$ associated (FTO), as an m6A demethylase, plays a critical anti-tumorigenic role in @DISEASE$ (ccRCC).	false
+8c687771119f37267cadfcf437f729b76548ecb6	In summary, we provide evidence that overexpression of ENRAGE in @DISEASE$ tumor tissue is an @PHENOTYPICFEATURE$-associated somatic alteration.	false
+55f85fe10337534e9370b8266f679c93618babdc	This is the first study utilizing data from a prospective randomized trial reporting an association between @PHENOTYPICFEATURE$ and improved overall survival for patients with @DISEASE$.	false
+e766c8dc0205c100846e1df35b3e0b19fae4b620	Visceral @PHENOTYPICFEATURE$ is associated with better recurrence-free survival after curative surgery for Japanese patients with localized @DISEASE$.	false
+b549702f497bf29fa2c0add8a7b2f4ae4a3caa86	Three patients had more than one autoimmune disease and one presented three autoimmune diseases (@DISEASE$, @PHENOTYPICFEATURE$ and celiac disease with a history of autoimmune hemolytic anemia).	false
+e2e04df7ed2fc2568d7dc0b813c0604494dc2619	Phylogenetic analyses revealed that lilli encodes the only Drosophila member of a family of transcription factors that includes the human genes causing Fragile-X @PHENOTYPICFEATURE$ (FMR2) and @DISEASE$ (LAF4).	false
+173e87177879fdca4a2f6c3157f5debca76a326f	Described here is the case of a boy with no risk factors for mesial temporal sclerosis who presented with posterior reversible encephalopathy syndrome and partial complex @PHENOTYPICFEATURE$ 8 days after initiation of intrathecal methotrexate for treatment of @DISEASE$, and who ultimately progressed to intractable temporal lobe epilepsy due to left mesial temporal sclerosis.	false
+20d2237baef1bce5b6595183599435dfe2bf80f5	Rehabilitation for @PHENOTYPICFEATURE$ following chemotherapy for @DISEASE$ involving the rectum.	false
+7a858932112fec00246db8f1d04a1fdca3f5bc20	We present a 15-year-old boy who developed hypertension, @PHENOTYPICFEATURE$, and acute renal failure due to extrinsic compression of the bladder and ureters by a large retrovesical @DISEASE$.	false
+fd29bdaa245a4da13a8ca9dd04344f71db43f304	Cytarabine, which is used for central nervous system prophylaxis during chemotherapy for @DISEASE$, has known neurotoxicity, and its side effects include motor @PHENOTYPICFEATURE$ due to cerebellar injury, ataxic dysarthria, dysfunction of ocular movement, confusion, somnolence and lethargy.	false
+0ef382cd8d9deaa13ad979d03ed63624d8e27489	Cytarabine, which is used for central nervous system prophylaxis during chemotherapy for @DISEASE$, has known neurotoxicity, and its side effects include motor ataxia due to cerebellar injury, ataxic @PHENOTYPICFEATURE$, dysfunction of ocular movement, confusion, somnolence and lethargy.	false
+8abb342f844a8212a14ac65eb813e0a297a06a5c	Cytarabine, which is used for central nervous system prophylaxis during chemotherapy for @DISEASE$, has known neurotoxicity, and its side effects include motor ataxia due to cerebellar injury, @PHENOTYPICFEATURE$ dysarthria, dysfunction of ocular movement, confusion, somnolence and lethargy.	false
+ad3c61fae8132740b91c3e449a589f16abd4f75a	This case report is about a patient diagnosed with @DISEASE$ who manifested motor @PHENOTYPICFEATURE$ after chemotherapy that included cytarabine.	false
+ee12f8568f61cf6a147370ebaa4c712fdf1eec87	An 11 year-old boy with AIDS, cerebral palsy and @PHENOTYPICFEATURE$ disorder presented with intractable hypoglycemia 12 days after diagnosis of @DISEASE$.	false
+fa52cec294e8878e2e03b0058e851dbd81ade67f	Case report: we present the case of a 44-year-old male who presented with uncontrollable diarrhea, severe protein-calorie malnutrition and multiple vitamin deficiencies, along with @PHENOTYPICFEATURE$ ten years after classic biliopancreatic diversion (@DISEASE$).	false
+dda07f314b1ecb8a39d57cba168784943b6e5008	Cytogenetic and molecular analyses using GTG-banding, single nucleotide polymorphism array and a novel GSDs targeted gene panel sequencing were performed in a 24 weeks fetus with increased biparietal diameter (@DISEASE$), @PHENOTYPICFEATURE$, narrow thorax and polyhydramnios.	false
+be9179038c8a8fa6189b9fdea374502bdbc2b30b	No correlation between @PHENOTYPICFEATURE$ during pregnancy and @DISEASE$ in the offspring.	false
+afa9081493dd9241bd4f98d9064487e84ddf05bd	It is mainly characterized by moderate-to-severe intellectual disability, epilepsy, @PHENOTYPICFEATURE$ and various malformations including @DISEASE$ and corpus callosum anomalies.	false
+d3711f10e343651c68a2eb2749c90ae8f790b9d3	Importantly, our data imply that the same SOX10 mutations can underlie both typical WS and KS with deafness without skin/@PHENOTYPICFEATURE$, @DISEASE$, or neurological defects.	false
+2f106e7d5a19d336eb7f30a1203ca03b7b192720	Then we focus on the clinical application potential of hESC/hiPSC-derived NCSCs on peripheral nerve injuries, corneal @PHENOTYPICFEATURE$, tooth regeneration, pathological melanogenesis, @DISEASE$, and cardiac repair and regeneration.	false
+fe8540520f9e1f8aed3d61d6a24b149a679f4f1d	It is mainly characterized by moderate-to-severe intellectual disability, @PHENOTYPICFEATURE$, epilepsy, and various malformations including @DISEASE$, corpus callosum anomalies, and congenital heart defects.	false
+e7a5190d40a2875173dc2fbeb454a5554ed734ad	Mowat-Wilson syndrome (MWS) is characterized by severe mental retardation with seizures, specific @PHENOTYPICFEATURE$, @DISEASE$, anomalies of the corpus callosum, and genitourinary and cardiac malformations.	false
+1538af46e68651fe22f139f6ca5d95b50e1ad739	All three children had @DISEASE$ and @PHENOTYPICFEATURE$.	false
+802c3260b67506202279d1a8443db588ba7a3fb6	The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, @PHENOTYPICFEATURE$ and variable congenital malformations including @DISEASE$) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.	false
+571c76722e4d8572f81ada24dcd86bbcd86b2f4a	The involvement of SOX10 and ZFHX1B in Waardenburg-@DISEASE$ (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, @PHENOTYPICFEATURE$ and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.	false
+bed2e15f9ae82dacfa61a55a127348352d1bbfaa	A 5-year-old girl with @DISEASE$, @PHENOTYPICFEATURE$, psychomotor retardation, epilepsy, and congenital heart disease is reported.	false
+28d930616073805823ec9b98febd93ad639a9543	Here we report on a family with corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, @PHENOTYPICFEATURE$, persistent ductus arteriosus, @DISEASE$, and moderate mental retardation.	false
+cdcbb2713c94fc6786ac494bc4a73e5d1d365729	We report a 9-year-old boy diagnosed as @DISEASE$, with @PHENOTYPICFEATURE$,metaphyseal chondrodysplasia, hair hypoplasia, Hirschsprung disease, hypothyroidism, vesicouretral refluxand renal stone.	false
+d5c148950911fa052038c6d69a8c8a4740077dc9	A 29-year-old white woman had @PHENOTYPICFEATURE$, hyperextendable joints, fine skin and body hair, anergy to common skin test antigens, subnormal lymphocyte response to phytohemagglutinin, and increased numbers of natural killer cells, characteristic of @DISEASE$, an autosomal, recessively inherited disorder found in America mainly among the old-order Amish.	false
+6700e948fc89133d174db68f4fbe01edc5f87fc1	@DISEASE$ (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by @PHENOTYPICFEATURE$, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence.	false
+05e4a5a09e0146b32b1c25fddcc1a9d35f076489	These include disorders of DNA replication/repair functions (Bloom, Werner, Rothmund-Thomson and Muir-Torre syndromes), genodermatoses affecting the folliculo-sebaceus unit (Brooke-Spiegler, Sch?pf-Schulz-Passarge and Cowden syndromes), immune response (@DISEASE$ and epidermodysplasia verruciformis) and melanin biosynthesis (oculocutaneous @PHENOTYPICFEATURE$ and Hermansky-Pudlak syndrome), and some epidermal nevus syndromes.	false
+7c1d3a3323ab4c8f626aa09dd83adeeed8bdafed	@DISEASE$ (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and @PHENOTYPICFEATURE$, found primarily in Amish and Finnish populations.	false
+19566cb333f93a41751e64aa1cba115aca53ce9d	While immune deficiency occurs in other short stature/@PHENOTYPICFEATURE$ skeletal dysplasias and @DISEASE$, it has not been described with kyphomelic dysplasia.	false
+475bee4a8143e343e570016ea22eea9191293333	Idiopathic @DISEASE$ (CCHS) is an unique disorder of respiratory control, occurring in association with Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$ of neural crest origin, and symptoms of autonomic nervous system dysfunction (ANSD).	false
+84e7bcb06f23faae7d8c74c6f9d636f0c380bb8b	Idiopathic congenital central hypoventilation syndrome (@DISEASE$) is an unique disorder of respiratory control, occurring in association with Hirschsprung disease (HSCR), @PHENOTYPICFEATURE$ of neural crest origin, and symptoms of autonomic nervous system dysfunction (ANSD).	false
+2e2582fc2be660c94bb097bd0a5a7f5126f90fcc	@DISEASE$ typically presents in the newborn period with alveolar hypoventilation, symptoms of autonomic dysregulation and, in a subset of cases, Hirschsprung disease or @PHENOTYPICFEATURE$ of neural crest origin or both.	false
+71318f42c2f9fb9f2ece8df4c5a6072f0a01b028	Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system, either isolated or combined, including congenital central hypoventilation syndrome (@DISEASE$), @PHENOTYPICFEATURE$ of the sympathetic nervous system and Hirschsprung disease.	false
+43c48b5de405f12e4bc569efa58ef9c35ed0676d	Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the autonomic nervous system, either isolated or combined, including @DISEASE$ (CCHS), @PHENOTYPICFEATURE$ of the sympathetic nervous system and Hirschsprung disease.	false
+ee1675123c600dc162b7d40db875994cae9554c3	Neuroblastoma, a @PHENOTYPICFEATURE$ of neural crest cell origin, occasionally presents in association with other neural crest abnormalities such as Hirschsprung disease, @DISEASE$, autonomic disturbances, and other tumors.	false
+49913aab8bfa79915f8d227ac289c5b1b7f203a9	Neuroblastoma, a neoplasm of neural crest cell origin, occasionally presents in association with other neural crest abnormalities such as Hirschsprung disease, @DISEASE$, autonomic disturbances, and other @PHENOTYPICFEATURE$.	false
+09e3441a132c5709c30fa32951f3491c2bd98250	Congenital central hypoventilation syndrome (@DISEASE$) typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung disease and later @PHENOTYPICFEATURE$ of neural crest origin.	false
+b5b3e992a584c185ba0f33c3c346223ad3f7a997	@DISEASE$ (CCHS) typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung disease and later @PHENOTYPICFEATURE$ of neural crest origin.	false
+9801ed42a7af20a9a7ffade39ac904d0f349bbdd	PHOX2B genotype allows for prediction of @PHENOTYPICFEATURE$ risk in @DISEASE$.	false
+d9abc51de5f1a0ae49f5ba37d73c0abbb7105453	Diffusion tensor imaging demonstrates brainstem and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9940456a801d2bdb13718f79ac3327fe9b36d06a	@DISEASE$ is an autosomal-dominant disease associated with @PHENOTYPICFEATURE$ of neural crest origin, segmental aganglionosis of the colon, and diffuse autonomic dysregulation symptoms.	false
+7f43ac53cf00a5df568dc3861b8f1c6930620a52	@DISEASE$ (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and @PHENOTYPICFEATURE$ of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases.	false
+7da6afb0c0f6541bb8c73c09d972a7743c986f81	Congenital central hypoventilation syndrome (@DISEASE$), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and @PHENOTYPICFEATURE$ of neural crest origin, results from polyalanine repeat expansion mutations in the paired-like homeobox (PHOX)2B gene in more than 90% of cases, and alternative PHOX2B mutations in remaining cases.	false
+5131085dfea7c5b8a6e2f5adfb93fd93df11c2b0	MICrocephaly, disproportionate pontine and cerebellar hypoplasia (@DISEASE$) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by @PHENOTYPICFEATURE$, microcephaly, and disproportionate pontine and cerebellar hypoplasia.	false
+768856a84f43b8567fd2fcb533094df3ec600278	The classic triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant @DISEASE$ (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.	false
+c3e38e6a9f709d1b7d87809a5713ec9945d413c3	DC is a clinically heterogeneous disorder diagnosed by the triad of @PHENOTYPICFEATURE$, abnormal skin pigmentation, and oral leukoplakia; @DISEASE$ (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficiency, and intrauterine growth retardation.	false
+31b966de64afd838fbe7c24e3aae0c3777fee648	The current study showed long-term and low-dose ADV treatment in a Chinese population may lead to proximal tubular impairment, metabolic acidosis, @PHENOTYPICFEATURE$, hypokalemia, @DISEASE$, renal osteopathia and renal functional damage.	false
+59a89fe90ddc390418bc895981ed1a47bb550764	ARPTH is a new syndrome characterized by nonacidotic proximal tubulopathy, @PHENOTYPICFEATURE$, @DISEASE$, and growth retardation.	false
+5611e60f15a973d7f37f67ce633e3a5d3f5799b8	@PHENOTYPICFEATURE$ is a disorder associated with @DISEASE$, and there are numerous reports of osteopenia, rickets, and/or fractures in this population.	false
+966c353362120e0875b29926e125493789203813	The diagnosis of OIT should be considered in a case of severe @PHENOTYPICFEATURE$ and @DISEASE$ that is not explained by any other metabolic or hereditary disease.	false
+cffc944800cbf67284ca313fa971c2a31504695f	Description and pathogenic interpretation of a case of @DISEASE$, hypophosphatemia and @PHENOTYPICFEATURE$].	false
+9b3181025151de1bffb6a8aa7397d6ea24ca1e5c	Description and pathogenic interpretation of a case of @DISEASE$, @PHENOTYPICFEATURE$ and hypercalciuria].	false
+be427d5b0cce24d36a10ad2f8228785c1d5a83de	When radiographs show excessive @PHENOTYPICFEATURE$, it is important to exclude presence of @DISEASE$.	false
+b9e07b75c3852034197aa69d311a9ad0f807f903	Bone radiographs taken in search of @DISEASE$ showed a significant increase in the incidence of congenital @PHENOTYPICFEATURE$ in the ALS patients (50% versus 8%).	false
+dadbb8cdf891d0caca7550945127babf1be4e7aa	Empiric treatment with favorable response to pyridoxine in conjunction with severe @DISEASE$, extremely low serum alkaline phosphatase, elevated phosphoethanolamine, hypercalcemia, @PHENOTYPICFEATURE$, and nephrocalcinosis led to a clinical diagnosis of infantile HPP.	false
+921e6efd7bac2a6d5eff179357168bad70ed7afb	Skeletal fluorosis is a chronically @DISEASE$ with extensive @PHENOTYPICFEATURE$ osteosclerosis caused by long time exposure to fluoride.	false
+748280d7031ad24400f8405a4d52697cfd97102b	@PHENOTYPICFEATURE$ and @DISEASE$ were cured in the patient after tumor removal.	false
+da699eaca5d28f7cbd202ac454dfe56c4c79064e	The purpose of this study was to test whether vasculopathy @DISEASE$ (DM) is associated with fetal @PHENOTYPICFEATURE$.	false
+2f380147ce8bcd9bb295036e7b4c970f62d451bf	The tight glycemic control required to attenuate chronic complications @DISEASE$ requires multiple daily injections of bolus insulin which cause hyperinsulinemic @PHENOTYPICFEATURE$ and hypertension due to Na(+) retention.	false
+39f48937d0e4983285f3a976816c42844dbc181d	Curcumin may be beneficial for the treatment of @PHENOTYPICFEATURE$ @DISEASE$.	false
+b737809d3ab0fdce1cf8da7bac5d6cb90e763195	gamma-glutamyl transpeptidase (gamma-GT) deficiency in GGT(enu1) mice is associated with glutathionemia, @DISEASE$, @PHENOTYPICFEATURE$, infertility, lethargy, cataracts, and shortened life span.	false
+6151e0071fbdfe9cd38058d6c43e700034146383	Such conditions as hypothalamic-pituitary insufficiency (functional hypothalamic amenorrhea, anorexia nervosa, @DISEASE$, hyperprolactinemia), ovarian failure (@PHENOTYPICFEATURE$, premature ovarian failure) and iatrogenic treatment (surgery, chemotherapy, radiotherapy) can cause hypoestrogenism.	false
+e70f07d21aaab94b40a52b6469b87eec0a487826	In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, @DISEASE$, y-microdeletions, Robertsonian translocations, autosomal inversions, @PHENOTYPICFEATURE$, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities.	false
+34ddec2a633b1a3c68c9544b0f2f4b5856b43114	@DISEASE$ (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic @PHENOTYPICFEATURE$ and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies.	false
+df91ee6a308b44b472a2f763010e82ce6925dfbd	In @DISEASE$ (KS), congenital @PHENOTYPICFEATURE$ is associated with olfactory impairment.	false
+f0961dbd8032842961d98aaf906cd064c636c7c8	Manual and oral stereognosis in children with cleft palate, @PHENOTYPICFEATURE$, pseudohypoparathyroidism, oral facial digital syndrome and @DISEASE$.	false
+2a2c77e7b1c445807244f4d808819bb504146876	@PHENOTYPICFEATURE$ on the buttocks as a manifestation of @DISEASE$: a clinicopathological entity?	false
+cabed9ee6ad6fde552f3ae9fa723b5f1f88e5ee0	@DISEASE$ and acquired @PHENOTYPICFEATURE$ disease with renal cell carcinoma in uremia.	false
+5b9b37df88a496c281e212399f0afcfd5ef38461	@DISEASE$ intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and @PHENOTYPICFEATURE$, and marked skewing of X-inactivation in female carriers.	false
+47de703069fccedbde5452f56882b14cf82074ce	X-linked @DISEASE$ mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, @PHENOTYPICFEATURE$, and alpha thalassemia.	false
+454a42582ce9416b64456a3e9b5d2eace7d65e5f	X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+6dcdbe0dddc4d2187a103863bd02d872e676f640	Constitution mutations in the X-encoded gene give rise to @DISEASE$ mental retardation (ATR-X) syndrome and a variety of related conditions that are often associated with profound developmental delay, facial dysmorphism, @PHENOTYPICFEATURE$, and alpha thalassemia.	false
+ca47cc36f8193dc09555e5decb7088a1522ab9be	Constitution mutations in the X-encoded gene give rise to alpha thalassemia mental retardation (ATR-X) syndrome and a variety of related conditions that are often associated with profound developmental delay, facial dysmorphism, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+edd4cc8011a0edb9a8e2c1127fcee1a2ce933cf2	Mutations in the ATRX gene cause ATR-X syndrome, an X-linked recessive developmental disorder resulting in severe mental retardation and mild @DISEASE$ with facial, skeletal and @PHENOTYPICFEATURE$.	false
+709f19141733649d3199da1a6f9d9f1c087b712c	X-linked @DISEASE$ mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, @PHENOTYPICFEATURE$ and alpha thalassaemia.	false
+3e05d81ad0ba5241d80eb8f8a2d4292b82bbb07e	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c8f317157197a5e8591241a9c42925aa4ddb2c62	The hallmarks of the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, @PHENOTYPICFEATURE$, and an unusual form of @DISEASE$.	false
+515f26d600773cac28f87e450c24bf1eb2b738d5	The hallmarks of the X-linked @DISEASE$/mental retardation (ATR-X) syndrome are severe psychomotor retardation, minor facial anomalies, @PHENOTYPICFEATURE$, and an unusual form of alpha-thalassemia.	false
+ee015ee4bac6c2db235f7a36ae2f3031a5676e72	We describe an infant with homozygous @DISEASE$, @PHENOTYPICFEATURE$, and terminal transverse limb defects, whose limbs demonstrate evidence of loss of tissue and abnormal morphogenesis.	false
+f7e87ae415ecf8228a825f69d741870f5ee086e3	The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+7c15925613e77be4545dc9cf28417316f5743900	X-linked alpha-thalassemia/mental retardation syndrome (ATR-X), which was first reported by Wilkie, et al. in 1991, is a disorder with severe mental retardation, characteristic facial appearance, @PHENOTYPICFEATURE$, and mild form of @DISEASE$.	false
+3ff78acca25534cbb5c59fe21468f819bb33a65f	Extramedullary haematopoiesis presented as intrathoracic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+e47f63b1fcfd081ffbb1cd95a28c505a10c672eb	@DISEASE$ is an X-linked recessive disorder characterized by neurological deterioration, @PHENOTYPICFEATURE$, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene.	false
+4e332db7b112192111c6e80022135407feeb34f4	Examples of genetic disorders with associated @PHENOTYPICFEATURE$ include @DISEASE$, Netherton syndrome, uncombable hair syndrome, trichothiodystrophy, and loose anagen hair syndrome.	false
+9573a79950bfedae6f7bd689fc2e9abc0e405796	@DISEASE$ and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and @PHENOTYPICFEATURE$.	false
+443315c9439e5204a1f238b7fc88b85e6e5d8a10	@DISEASE$ presents in the first several months of life with @PHENOTYPICFEATURE$, developmental delay, and seizures.	false
+4f4b29372326dd2b59832c2b06591f579d017dcd	@DISEASE$, a fatal neurodegenerative disorder resulting in seizures, hypotonia, and @PHENOTYPICFEATURE$, is due to inherited loss-of-function mutations in the gene encoding a copper-transporting ATPase (Atp7a) on the X chromosome.	false
+3c22f0a6dc92775e1b078394d2228b2c47f7e6a5	Loss-of-function mutations in the ATP7A gene result in @DISEASE$, a fatal neurodegenerative disorder resulting in seizures, hypotonia and @PHENOTYPICFEATURE$, due to systemic copper deficiency.	false
+9e509f32dd3004d388a0a0d1f13c21b1c5f52632	Molecular soluble markers of @PHENOTYPICFEATURE$, at rest and during exercise, can identify the impairment of the aerobic system in MD, but a reliable biomarker for the screening or diagnosis of @DISEASE$ is still needed.	false
+c382528bd09195c6b2bdcb65fffc3c25dac99cf5	Molecular soluble markers of @PHENOTYPICFEATURE$, at rest and during exercise, can identify the impairment of the aerobic system in @DISEASE$, but a reliable biomarker for the screening or diagnosis of MD is still needed.	false
+c811a7e1267fa8781e1a11b879c9b34e70992ad7	This case can be categorized as a typical example of speckled @DISEASE$ syndrome, a recently recognized phenotype characterized by a speckled lentiginous nevus of the papular type and ipsilateral @PHENOTYPICFEATURE$ in the form of dysesthesia, muscular weakness or hyperhidrosis.	false
+76417887c663968b14c7b7871d37dcf97387114b	@DISEASE$ syndrome (URCS) is a rare congenital @PHENOTYPICFEATURE$.	false
+3e82d6fc831c47a3d0d3a25a205d7b0266504eae	@DISEASE$ syndrome (URCS) is a rare congenital @PHENOTYPICFEATURE$ in which there is a communication between the coronary sinus and the left atrium.	false
+5b13a51178904e795ae73c6b68970a6326fd4141	@DISEASE$ syndrome or coronary sinus septal defect is a rare congenital @PHENOTYPICFEATURE$.	false
+1a5ab4a011777fddf8b692fea4abe99d8e22d630	@DISEASE$ syndrome (URCSS) is a spectrum of @PHENOTYPICFEATURE$ in which part (partial type) or the entire common wall (complete type) between the coronary sinus (CS) and left atrium is absent.	false
+f17e3f54785869db8560041c49d40028d49ad1b3	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, infantile spasms and chorioretinal lacunae.	false
+c753550b74adcb82ea79bf271ae02ef18554b533	@DISEASE$: chorioretinal lacunae without @PHENOTYPICFEATURE$.	false
+3463fadb4e8fc6bc8c072a47a000a433eb622aed	@DISEASE$ is characterized by infantile spasms, @PHENOTYPICFEATURE$ and chorioretinal lacunae.	false
+b11cd7570690da9c0832e402278ade5179983c95	@DISEASE$ (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for @PHENOTYPICFEATURE$.	false
+8d62d5ba68bc6a4da996095a6f691eb3cfcecab2	@DISEASE$ (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, @PHENOTYPICFEATURE$ and infantile spasms responsible for mental retardation.	false
+5b9a6f0e606accfdd2972eb19597458026952272	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, chorioretinal lacunae, and infantile spasms.	false
+827f2010ba30dc908547e0489b1df28e8bcfcdf3	@PHENOTYPICFEATURE$, chorioretinopathy and infantile spasms (@DISEASE$).	false
+3463fadb4e8fc6bc8c072a47a000a433eb622aed	@DISEASE$ is characterized by infantile spasms, @PHENOTYPICFEATURE$ and chorioretinal lacunae.	false
+79a76d7ba9c297611792faae7d4d88ac3eeac26a	In summary, @DISEASE$ is defined by its tetrad of infantile spasms, agenesis of the corpus callosum, @PHENOTYPICFEATURE$, and chorioretinal lacunae.	false
+9945a455d2935381432a5107e02ace75277b6d6c	In summary, @DISEASE$ is defined by its tetrad of infantile spasms, @PHENOTYPICFEATURE$, mental retardation, and chorioretinal lacunae.	false
+90ced427b3e2b312a1fb67ba9dc4fb9056a39d3e	@PHENOTYPICFEATURE$, chorioretinal lacunae, absence of infantile spasms, and normal development: @DISEASE$ without epilepsy?	false
+9ed529de96127e42953e85314308975219890207	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, infantile spasms, and ocular anomalies.	false
+b77cbc15e5d9d04ede567d38c78e3f30196f963b	Four of them suffered from primary chest wall tumors (2 @DISEASE$, a chondrosarcoma, and 1 hemangioma), one had a recurrent chest wall tumor from breast carcinoma, and one had @PHENOTYPICFEATURE$.	false
+13139a02d2825160e4f5a86170e8c6cb248c83af	The clinical data of one @DISEASE$ patient accompanied with @PHENOTYPICFEATURE$ who was treated in our hospital since December 2011 were retrospectively summarized.	false
+fd5c932f9a900660f6a81cfb3918d59b7bd19d95	As persons destined to develop familial @DISEASE$ (FAD) due to fully penetrant @PHENOTYPICFEATURE$ mutations are essentially certain to develop the disease, they provide the opportunity to identify oligomers during the presymptomatic stage of the disease.	false
+89c6b74c890301cbb77e8004b632c6621a93bbf7	These findings provide a novel mechanism by which @DISEASE$ inhibits @PHENOTYPICFEATURE$ angiogenesis through modulating endothelial tip cells.	false
+57836f52545d683874fae96dd6b31360d1c4f50b	Such @PHENOTYPICFEATURE$ suppressor function of AR is lost in androgen depletion independent (@DISEASE$) prostate cancers.	false
+5a986e89e7f3d715fbf06497d91802411c8fdc93	SPG4, SPG3A and SPG31 are the three leading causes of @PHENOTYPICFEATURE$ (@DISEASE$) HSPs.	false
+33c9a238e0eaa531c37917b419c533cc994a567b	Autogenous dialysis access (@DISEASE$) may improve outcome for @PHENOTYPICFEATURE$ patients.	false
+acf7e8f6053f5071da6f480b98a2becbcc840731	Associations between @DISEASE$ and sensorineural hearing loss, behavioural abnormalities, non-infectious pulmonary disease and @PHENOTYPICFEATURE$ are all recognised, and affect the long term outcome for these patients.	false
+f46f90f5f4ff3a7c066028ac5eba1688f5509ab4	Confusion between severe AD and @PHENOTYPICFEATURE$ may account for part of the increased risk of lymphoma in patients with @DISEASE$.	false
+ab059d35bf13770a2a114775c3d5cc16e61ad637	Confusion between severe @DISEASE$ and @PHENOTYPICFEATURE$ may account for part of the increased risk of lymphoma in patients with AD.	false
+695dd66c597b9c006198f76f56527532b842f560	To summarize our experience in the management of adipsic central diabetes insipidus(@DISEASE$) accompanied with @PHENOTYPICFEATURE$.	false
+14ec07e95d85208aecc24dc7109a968f1a801d0a	Purine metabolism, immune reconstitution, and abdominal adipose @PHENOTYPICFEATURE$ after gene therapy for @DISEASE$.	false
+9180a332dfc8006b944d3ffd5de1b6d3a217270e	Pheochromocytoma/@DISEASE$ have been described to be associated with rare vascular abnormalities like @PHENOTYPICFEATURE$.	false
+af1f8c7812d06a8ae8281bee2ccfec7b339a47d3	We report the first Japanese pediatric case of @DISEASE$ with a de novo @PHENOTYPICFEATURE$ in the SDHB gene.	false
+6801f1c23e95917d8f4b7d4b4ee792f2ae70884e	Thirty per cent are associated with SDHA germline @PHENOTYPICFEATURE$ and 50% are associated with SDHC epimutation (post-zygotic promoter hypermethylation) - the hallmark of the syndromic but non-hereditary Carney triad (SDH- deficient GIST, SDH-deficient @DISEASE$ and pulmonary chondroma).	false
+754f73a7b0b2dea77181db6f4b2c720a7735fe34	The only somatic heterozygous @PHENOTYPICFEATURE$, c.242C>T (P81L), has been found in the germ line of two families with hereditary @DISEASE$ and is conserved among four eukaryotic multicellular organisms.	false
+ecd2c0d529b8fb8d11986acce0cb2d0a0fec6218	The presentation of most patients with AL amyloidosis is usually related to @PHENOTYPICFEATURE$, nephrotic syndrome o peripheral neuropathy, but there are unusual features suggesting @DISEASE$ (GCA) and polymyalgia rheumatic (PMR).	false
+894c7a506eaac07207ad1c66537d839a5f4bfe37	Accumulating evidence supports the conclusion that sST2 is a biomarker of vascular health with diagnostic and/or prognostic value in various cardiovascular diseases, including coronary artery disease, myocardial infarction, atherosclerosis, @DISEASE$, acute aortic dissection, and ischaemic stroke, as well as @PHENOTYPICFEATURE$ and diabetes.	false
+c5604b9e976cbad956200416cd661870ce2ba9b5	Severe @PHENOTYPICFEATURE$ and leukoerythroblastic anaemia in a patient with @DISEASE$.	false
+9b831cc038596e6425a3e28b06d9abeece1bcf98	A 75-year-old woman with a history of polymyalgia rheumatica and @DISEASE$ was admitted to the authors' institution with acute @PHENOTYPICFEATURE$, severe left ventricular systolic dysfunction and grade III aortic valve insufficiency.	false
+512a6544f13e0eab623214467361427c0e975fef	@DISEASE$-associated mutations in p16 uncouple its @PHENOTYPICFEATURE$-suppressor functions.	false
+6123425232757b41ed641a99e9aae0ed6252a6cf	Variants in the CDKN2A @PHENOTYPICFEATURE$ suppressor are associated with @DISEASE$ (FM), although for many variants the linkage is weak.	false
+538c7dd59ed5e0d1815fbd754f8ad2df2c49503c	@DISEASE$: a five-year study of Brazilian patients in a cancer referral center - phenotypic characteristics of probands and pathological features of primary @PHENOTYPICFEATURE$.	false
+c747b58dac38efa8432f78d7d43508d636046bbb	Germline mutations in the @PHENOTYPICFEATURE$ suppressor gene CDKN2A occur in 5-20% of @DISEASE$ cases.	false
+984360ee8b01036fc6e777829fe10ff934cb00ab	These findings clarify previous disparities and argue strongly that p16CDKN2 is a bona fide @PHENOTYPICFEATURE$ suppressor associated with @DISEASE$.	false
+e6a76b811a0f78168a9bec2be5c09b36d3b990fb	The relatively higher frequency of N-ras mutations in @PHENOTYPICFEATURE$ from patients with @DISEASE$ may be related to the hypermutability described in hereditary melanoma and dysplastic naevus syndrome.	false
+2e3893fad51a1815d50aa644e5525d9c196635c0	The relatively higher frequency of N-ras mutations in @PHENOTYPICFEATURE$ from patients with hereditary melanoma may be related to the hypermutability described in @DISEASE$ and dysplastic naevus syndrome.	false
+e81b15584c08f737cd00556959956e9ded7d71e6	@DISEASE$ (FM) is a dominantly heritable cancer that is associated with mutations in the @PHENOTYPICFEATURE$ suppressor CDKN2A/p16.	false
+cc616030501a97da67f629945b6282987763cddf	The @DISEASE$ gene (INK4a/MTS1/CDKN2) encodes potent @PHENOTYPICFEATURE$ suppressor activity.	false
+2bf337c34f60a367e482426f86dbed5db2a2a787	We have now done so by sequencing exon 5 of both of these genes in 13 unique @DISEASE$ pedigrees, members of which have had either uveal or @PHENOTYPICFEATURE$ and/or blue nevi.	false
+93e774268426b12d3b595e8c6b1e335eb8f22544	In addition, shorter telomeres, while tending to reduce the risk of @DISEASE$ regardless of single or multiple @PHENOTYPICFEATURE$, nearly trebled the risk of single sporadic melanoma.	false
+99edb669ed697341ad7d051bd43c1c70cd9b3354	We review the syndrome of hypoparathyroidism, deafness, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+3b870f7575afabf1ca46eb7fe6020b43fdfa3c9d	A novel mutation in the GATA3 gene in a family with @DISEASE$ (Hypoparathyroidism, sensorineural Deafness and @PHENOTYPICFEATURE$ syndrome).	false
+04c818ab1ede528df96f8845d751f25b458fe6f2	Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, @PHENOTYPICFEATURE$, that is the triad that features the @DISEASE$.	false
+d41962b83623be84524fe738a0b4d10414ac7e14	@PHENOTYPICFEATURE$ in a patient with @DISEASE$ and a GATA3 mutation.	false
+1ceea2aa3e0ef1bdf9e5b9e2bd046fb9da628cf7	Here we describe the case of a patient with all three components of @DISEASE$ diagnosed in the neonatal period who presented with cerebral infarction, hypocalcemia, and @PHENOTYPICFEATURE$.	false
+81c2a8c1758c83a73a819b659c0b9d1c01f6e0ab	Here we report a novel mutation of GATA3 in a patient diagnosed with @DISEASE$ at the age of 58 with extensive @PHENOTYPICFEATURE$.	false
+3f0a300dd917e8c648834109376876d8f9d1357d	@DISEASE$ is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and @PHENOTYPICFEATURE$ caused by mutation of the GATA3 gene located at chromosome 10p15.	false
+7b2f6074e74146270252bc6f0c25bd0b1ae597ae	We report here on a girl and her father with @DISEASE$ (Hypoparathyroidism, sensorineural Deafness and @PHENOTYPICFEATURE$ syndrome).	false
+c41ade4419f8b054d3282d0b54a1107043ddd2d8	Haploinsufficiency of a region located distal to 10p14 designated HDR1, is responsible for hypoparathyroidism, sensorineural deafness, and @PHENOTYPICFEATURE$ (@DISEASE$).	false
+d75436b9471e6d7b9d10272bf39ae48f5c5f9bcf	We identified a novel nonsense mutation of GATA3 in an adult patient with @DISEASE$ who showed extensive @PHENOTYPICFEATURE$.	false
+539cc7db82902c4b4bc1cc08732d0d4285b6353f	Shwachman-Diamond syndrome (SDS) is a rare inherited @DISEASE$, characterised by neutropenia, exocrine pancreatic dysfunction and often @PHENOTYPICFEATURE$.	false
+5f6838342f094ffd027f1e8c66d2edc531fb8fa9	@DISEASE$ (TRPS) is an autosomal-dominant congenital @PHENOTYPICFEATURE$ disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+a46f2cd8ccd95b01344ff3ef0c2a304aaf9edfae	Trichorhinophalangeal syndrome (@DISEASE$) is an autosomal-dominant congenital @PHENOTYPICFEATURE$ disease characterized by sparse and slow-growing scalp hair, craniofacial and skeletal abnormalities, pear-shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes.	false
+2ce3256327f279c79982d6b0854fa96ff70b97d8	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, @DISEASE$, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, @PHENOTYPICFEATURE$ dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+dedaa0ab12527825406b284d3be38c388965ddd9	We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, @DISEASE$, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, @PHENOTYPICFEATURE$ with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets.	false
+2c83ec9994f57cdeb42ce903697a13a90785fe13	In dermatological practice patients with @DISEASE$ often present because of @PHENOTYPICFEATURE$.	false
+a0f4a3ec5ac87f43027326ca2ffc4e3bfd52b2ae	All three showed clinical features typical of @DISEASE$ I such as temporal alopecia and @PHENOTYPICFEATURE$, but no mental retardation.	false
+a99b0f2c0205907ebed5d026d4fd4f027290b974	Trichorhinophalangeal syndrome (@DISEASE$) patients tend to have alopecia that appears to be androgenetic, and this genetic model might give clues to the pathogenesis of @PHENOTYPICFEATURE$ or hair morphogenesis.	false
+cc0b2538bc8af894e4f623520b5675f2d2933975	@DISEASE$ (TRPS) patients tend to have alopecia that appears to be androgenetic, and this genetic model might give clues to the pathogenesis of @PHENOTYPICFEATURE$ or hair morphogenesis.	false
+78a4376dd97dde0ca7819dc8929b8e25547ff7a5	@DISEASE$ (ALD), a @PHENOTYPICFEATURE$ disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation.	false
+1fc78bee0ff91bcf8ea0ae62efbdb617ff704a84	X-linked adrenoleukodystrophy (@DISEASE$), a @PHENOTYPICFEATURE$ disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation.	false
+67a376fe9787d93c444d095fd5056c52d005fb65	Virtually all male @DISEASE$ patients develop adrenocortical insufficiency in childhood and progressive myelopathy and @PHENOTYPICFEATURE$ in adulthood.	false
+ce57616147da5ba6b02f0d92e45ee9e5c6e764e2	HCT alone does not correct skeletal dysplasia in MPSs and may not prevent development or progression of the @PHENOTYPICFEATURE$ in sphingolipidoses and @DISEASE$.	false
+21649700e6fe7c6638983dd7e21a8136fa25073a	@DISEASE$ should be considered in the differential diagnosis in women with chronic myelopathy and/or @PHENOTYPICFEATURE$ (especially with early faecal incontinence).	false
+b98dcf4a2bac27152fe75e7dfea8371f5bb743df	Confirmation diagnosis was obtained by the existence in the family of two definite cases (a brother and second cousin) and one probable case (a maternal uncle) of an adrenoleukodystrophy (@DISEASE$), by the demonstration of a @PHENOTYPICFEATURE$ with characteristic lamellar inclusions in a sural nerve biopsy and by raised plasma very long chain fatty acids level.	false
+0e810836e7ab89f311474ba5d7cb28373dbd3d33	Our data show that @DISEASE$ carriers develop signs and symptoms of myelopathy (29/46, 63%) and/or @PHENOTYPICFEATURE$ (26/46, 57%).	false
+78a4376dd97dde0ca7819dc8929b8e25547ff7a5	@DISEASE$ (ALD), a @PHENOTYPICFEATURE$ disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation.	false
+1fc78bee0ff91bcf8ea0ae62efbdb617ff704a84	X-linked adrenoleukodystrophy (@DISEASE$), a @PHENOTYPICFEATURE$ disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation.	false
+2bf44e906dda384cebebd99b0365027f9abbae9e	Alzheimer's disease (AD) is the most prevalent cause of @PHENOTYPICFEATURE$ in aging humans, and there is a growing body of evidence that similar disorders (Alzheimer's-like diseases, @DISEASE$) are observed in animals, more than ever found in senescent individuals.	false
+aa690537ab2c77e67a03736e9f43e74ccb4144e1	@DISEASE$ may manifest either as a?fatal, rapidly progressive demyelinating disease in boys and adult men, or as a?slowly progressive adult-onset long-tract myelopathy along with @PHENOTYPICFEATURE$.	false
+1e790c13848be6c501783fd98325e9c37d1f0d7a	Here we report behavioral evidence of hallmark migraine features, photophobia and unilateral head @PHENOTYPICFEATURE$, in transgenic knock-in mice bearing human @DISEASE$ (FHM-1) gain-of-function missense mutations (R192Q or S218L) in the Cacna1a gene encoding the CaV2.1 calcium channel ?1 subunit.	false
+6fb29676704f919fcbab6e3110c734094fd1173e	The incidence of abnormalities first seen postnatally was 0.1% and the most common were @DISEASE$, @PHENOTYPICFEATURE$ or syndactyly and ambiguous genitalia or hypospadias; prenatal examination of the genitalia was not a compulsory part of the protocol.	false
+ea41a5aa22154f59ad7ec76093c685bcb6da9b85	@PHENOTYPICFEATURE$ and ectopic eruption in patients with @DISEASE$.	false
+3505090da28c2744b050d85139bd6c17b9789435	The purpose of this study was to evaluate two variables associated with @DISEASE$ and cleft palate related to Pierre Robin syndrome, namely, sexual incidence and @PHENOTYPICFEATURE$.	false
+21dd8108243e27cd23f415f53d004d17e64520b4	Does the incidence of @PHENOTYPICFEATURE$ differ among the four following types of cleft lip and palate: the @DISEASE$, the unilateral cleft lip and palate, (right or left), and the bilateral cleft lip and palate.	false
+2fd95c1f1f33c92ffc860f0fe64ca2745a71f54a	To compare the prevalence of @PHENOTYPICFEATURE$ in patients with @DISEASE$ with or without hypodontia of the second premolar.	false
+057870d0e9c028702d08ff810d2abde5dc4d80d4	Two patients with the heterozygous R189H mutation in ACTA2 and Complex @PHENOTYPICFEATURE$ expands the cardiac phenotype of @DISEASE$.	false
+057870d0e9c028702d08ff810d2abde5dc4d80d4	Two patients with the heterozygous R189H mutation in ACTA2 and Complex @PHENOTYPICFEATURE$ expands the cardiac phenotype of @DISEASE$.	false
+b2f327e3ae2e76064d2ae7b764b10bb734837a74	Alstr?m syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and @PHENOTYPICFEATURE$, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or @DISEASE$, and progressive pulmonary, hepatic, and renal dysfunction.	false
+658141650f3033cbfb970036c30f4f5d945de835	The diagnosis is associated with some criteria for exclusion, i.e. coronary heart disease, @PHENOTYPICFEATURE$, valvular heart disease, in addition all obstructive and @DISEASE$ must be excluded.	false
+2fb6f10120bb4ed8e189ac108e3ecb7b0644dc47	Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, @PHENOTYPICFEATURE$, mitral valve prolapse, @DISEASE$, gastrointestinal hemorrhage, and cerebral ischemia or hemorrhage.	false
+3c744422cac65639eaf6134aad4c13684cba1bec	This form of failure occurs more commonly in patients with @PHENOTYPICFEATURE$ or valvular heart disease, diabetes mellitus, myocardial ischaemia, as well as in hypertrophic or @DISEASE$, and is more prevalent in the elderly.	false
+6103049c658ffd52d8a5fe29dcbc60275465999a	Additionally, he had arterial hypertension, diabetes, hyperlipidemia, hyperuricemia, hyper-CK-emia, hepatopathy, atrial fibrillation, recurrent heart-failure, pulmonary @PHENOTYPICFEATURE$, mitral insufficiency, and @DISEASE$.	false
+1714fc5c92c557fd95b7b9cfc395f38772d4d38c	Cardiac involvement is rare and referred to as @DISEASE$, pulmonary @PHENOTYPICFEATURE$, and calcifications of the valves and the aortic arch.	false
+5b7f57f019ece1ac53661d20a2890ef31e72812a	Echocardiography was used to compare the left ventricular function in 35 cases of congestive cardiomyopathy (COCM), 16 cases of obstructive and 28 cases of non-obstructive asymmetric septal hypertrophy, 43 cases of @PHENOTYPICFEATURE$ heart disease, 21 cases of ischaemic cardiomyopathy (ICM), 2 cases of @DISEASE$, and one case of cardiac amyloidosis.	false
+56ad8b1215b09eb1e3dd8ce638305a4fbbd7b571	The child described in the case report had a @DISEASE$, complicated by pulmonary @PHENOTYPICFEATURE$, in association with miliary tuberculosis.	false
+ec0428a5723ac006bbaef101f80c3f6118cf9dd9	@DISEASE$ (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and @PHENOTYPICFEATURE$.	false
+e5d397af18618f63bbbc7251545bb264a0f8c402	In patients with corticobasal degeneration (CBD), asymmetrical @PHENOTYPICFEATURE$ corresponding with @DISEASE$ (CBS) may be a characteristic finding.	false
+a651c7fde54f58beb24592925834a5d8f1ef02e9	The motor features of @DISEASE$ (CBS) are well recognized but the fact that many, if not all, affected patients develop @PHENOTYPICFEATURE$ is still underrecognized.	false
+7f67bc9e98b80a9fce79108e2e5bb94513320588	Although geared for research, diagnostic criteria have been refined over the past several years and can nevertheless aid the clinician with the diagnosis of disorders such as mild cognitive impairment, Alzheimer disease, frontotemporal dementia, dementia with Lewy bodies, the primary progressive aphasias, @DISEASE$, vascular @PHENOTYPICFEATURE$, and posterior cortical atrophy.	false
+b8cb3a5a6d57025c081c0a9264585223c391d3f6	Although geared for research, diagnostic criteria have been refined over the past several years and can nevertheless aid the clinician with the diagnosis of disorders such as mild @PHENOTYPICFEATURE$, Alzheimer disease, frontotemporal dementia, dementia with Lewy bodies, the primary progressive aphasias, @DISEASE$, vascular cognitive impairment, and posterior cortical atrophy.	false
+3d1322d5382d6a0d88eefddab2fcc0410e0ee64e	We measured PGRN in CSF in 229 patients with amnestic mild @PHENOTYPICFEATURE$, Alzheimer's disease dementia, sporadic FTD, dementia with Lewy bodies, @DISEASE$, or progressive supranuclear palsy.	false
+46c2fd208203f3eb4bc135ab40ab77ed0c155cef	To assess disease-related patterns of in vivo pathology in 11 patients with @DISEASE$ (CBS) compared to 20 healthy controls and 33 mild @PHENOTYPICFEATURE$ (MCI) patients due to Alzheimer's disease.	false
+ac5fef3a2c58aa92bc10d372115557aff3e2ecd6	@DISEASE$ (CBS) is a multifaceted neurodegenerative disorder characterized by a combination of motor and @PHENOTYPICFEATURE$.	false
+bd1c0db66e5793000281d042620cbb9ecf72ef00	@DISEASE$ (CBS) is a neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia, cortical sensory loss, myoclonus, dystonia, and @PHENOTYPICFEATURE$.	false
+c5e210e33e004949100a1b38ccb1692d992fbd53	@DISEASE$ (CBS) is a neurodegenerative disorder that overlaps both clinically and neuropathologically with Frontotemporal dementia (FTD) and is characterized by apraxia, alien limb phenomena, cortical sensory loss, @PHENOTYPICFEATURE$, behavioral changes and aphasia.	false
+b6a2d94a8d09363de073edd605a72aaf22559716	@DISEASE$ (CBS) is a sporadic tauopathy that manifests by a various combination of motor and @PHENOTYPICFEATURE$, which makes its diagnosis challenging.	false
+74a493ccc601bf94ec855126bbe7230cf5996a5c	Clinical diagnoses included frontotemporal dementia (FTD), primary progressive aphasia, FTD with parkinsonism, parkinsonism, @DISEASE$, Alzheimer's disease, amnestic mild @PHENOTYPICFEATURE$, and others.	false
+d3bb50cbd5ba1dfaf42cfaf1a6d07f3bf0e9e23f	Impairment of gaze fixation and holding in patients with @DISEASE$ syndrome and associated @PHENOTYPICFEATURE$.	false
+808bf8fc90d7728cfff087a2a8c2d1c76bfef7df	Retinal architectural features identified in association with @DISEASE$ included focal macular edema (59?%), diffuse macular edema (50?%), any intraretinal @PHENOTYPICFEATURE$ (77?%), both diffuse and focal macular edema (32?%), and retinal pigment epithelial alteration (27?%).	false
+5f11537cb2b7b947a591038a1f817407856d27c7	Eyes with PCV are characterized by a higher incidence of SRDs, greater @DISEASE$ height, and less intraretinal @PHENOTYPICFEATURE$ than eyes with exudative AMD.	false
+9cee14042e6f021968578f395a65a39f3963b118	The association between BCVA improvement and @PHENOTYPICFEATURE$ reduction was more significant in the @DISEASE$ component.	false
+ada5031bae9f2ae3c4aaf5f38bc746aeb0e0cef4	In DME patients with @DISEASE$, IVB achieved greater reduction of SRD, compared with PSTI; however, intraretinal @PHENOTYPICFEATURE$ responded more favorably to PSTI, regardless of the presence of SRD.	false
+0fb9fa894fc29d168c2724adabc9447407c50fd9	In DME patients with SRD, IVB achieved greater reduction of SRD, compared with PSTI; however, intraretinal @PHENOTYPICFEATURE$ responded more favorably to PSTI, regardless of the presence of @DISEASE$.	false
+b9083620b00a6c59c18fac6430c2e33efc34a9e7	Before treatment, metamorphopsia was noted in 51% of the cases, intraretinal @PHENOTYPICFEATURE$ (IRE) was present on OCT scans in 71%, serous retinal detachment (@DISEASE$) in 85%, and pigment epithelial detachment (PED) in 10%.	false
+20f671bd1de8ae84c67f48b5cabd7e0b1b6763f6	@DISEASE$ (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+929f35eb976fd43b8aa3b7db8b4620c08c986f85	@DISEASE$ is an autosomal dominant disorder of acroosteolysis, skull deformities, characteristic @PHENOTYPICFEATURE$, osteoporosis, joint laxity, early loss of teeth, hearing loss, and a hoarse voice.	false
+421bebff3eecd0c9ea39c41c0be5a95b63ee73a2	@DISEASE$ (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of @PHENOTYPICFEATURE$ and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue.	false
+c85980f893f7f0a5aca2b87f6a428636fb45738d	@DISEASE$ (EA1) is an autosomal dominant neurological disorder characterized by myokymia and attacks of @PHENOTYPICFEATURE$ often precipitated by stress.	false
+beaab438e2bc484d2b427550328261ff360eb3ce	Several missense mutations in the Kv1.1 gene have been associated with @DISEASE$ syndrome (EA-1), which is characterized by continuous myokymia, episodic attacks of @PHENOTYPICFEATURE$ and spastic contractions of skeletal muscles.	false
+d0cff37e90f0027e02483d13d887b84b6f4e4766	isolated hemihypertrophy; sporadic @PHENOTYPICFEATURE$, which is almost always associated with del(11p13); genital anomalies, particularly male pseudohermaphroditism and the @DISEASE$; and more weakly associated or uncommon conditions, such as neurofibromatosis and Perlman syndrome, respectively.	false
+7a6d57f478a251a224031a2fde5af41dba7980a1	There are many possible causes of airway @PHENOTYPICFEATURE$ in a patient being treated for @DISEASE$.	false
+4a74cc6f2f8e407e0aa49df033f9fc5b7ffc9684	Two experienced readers, blinded to clinical/histologic/follow-up data, evaluated images according to clearly defined criteria for the diagnosis of recurrent head and neck squamous cell carcinoma/second primary @DISEASE$ occurring after treatment, post-radiation therapy inflammatory @PHENOTYPICFEATURE$, and late fibrosis.	false
+0b68e4f93ca13a941c3a7c56bcab5aee86b14e72	Two experienced readers, blinded to clinical/histologic/follow-up data, evaluated images according to clearly defined criteria for the diagnosis of recurrent @DISEASE$/second primary head and neck squamous cell carcinoma occurring after treatment, post-radiation therapy inflammatory @PHENOTYPICFEATURE$, and late fibrosis.	false
+708987453ab7cf658aeebb6f5193764235bd4c0e	In this review we provide an overview of compounds that have been tested to @DISEASE$ @PHENOTYPICFEATURE$ and/or fibrosis.	false
+048482b309a0287de69e3b6672440e8404f96fcc	Headache, nausea, @PHENOTYPICFEATURE$, insomnia and peripheral edema are the most important symptoms of acute mountain sickness (@DISEASE$), which occur within 6 to 12 h.	false
+c73eede22bba34137fc6a78d3bcc25b8edfeda4c	@DISEASE$ is a syndrome characterized by headache accompanied by one or more other symptoms, such as light-headedness, dizziness, loss of appetite, nausea, @PHENOTYPICFEATURE$, fatigue, lassitude, and trouble sleeping.	false
+06fd7d271b778f758c51d64a7b0f73e5069d0d72	Acute Mountain Sickness (@DISEASE$) is a multi-system disorder that is characterized by headache, anorexia, nausea, @PHENOTYPICFEATURE$, insomnia, lassitude, and malaise.	false
+dbeaec28930900fa5610491a9924725ca9c7f2d5	Acute mountain sickness (@DISEASE$) develops within a few hours after arrival at high altitude and includes headache, anorexia, nausea, @PHENOTYPICFEATURE$, and malaise.	false
+97f39549c2b44a99697289f68a917b5a07c75d71	This analysis found no evidence that the PHQID had a significant effect on RA 30-day mortality or RA 60-day cost for @DISEASE$, heart failure, @PHENOTYPICFEATURE$, or CABG and weak evidence that the PHQID increased RA outlier classification for heart failure and pneumonia.	false
+7f5b8ed5bca5f1d8e8ad5b4008f3222f6e0a316a	This analysis found no evidence that the PHQID had a significant effect on RA 30-day mortality or RA 60-day cost for @DISEASE$, heart failure, pneumonia, or CABG and weak evidence that the PHQID increased RA outlier classification for heart failure and @PHENOTYPICFEATURE$.	false
+ee7a1e02874e72ced110eed516dce42960e2ed9a	We hypothesized that clinician-performed mesenteric vessels duplex ultrasound (DUS) could facilitate early identification of patients with @DISEASE$ in high-risk patients presenting with @PHENOTYPICFEATURE$.	false
+40cdfee08615cda10fb4a1a02a2ff8d0723360f1	Fever, @PHENOTYPICFEATURE$, and hematuria developed in two patients with hematologic malignant conditions (multiple myeloma and @DISEASE$).	false
+6b65f7c6732c32cf89ceb7eedd903132025ff22a	After hospitalization for @DISEASE$, heart failure, and @PHENOTYPICFEATURE$, there were 14,714 (9%), 31,621 (8%), and 26,681 (8%) ED visits, respectively.	false
+c94cc66fe88144ee27f72f87dcc1bac290116851	The symptoms of acclimatisation disorder and @DISEASE$, according to their degree of frequency, were headache, weakness, dyspnoea and palpitation, anorexia, nausea, @PHENOTYPICFEATURE$, giddiness, ataxia and insomnia.	false
+3f96dcb20a1a7dfa824f06a7d43c493241d98e61	Patients undergoing hematopoietic stem cell transplantation (HSCT) have a higher risk of developing secondary solid @PHENOTYPICFEATURE$, in particular squamous cell carcinoma, because of several risk factors, including full-body irradiation (TBI), chemotherapy, and @DISEASE$ (GVHD).	false
+b7dfab017333fd9abb655dbc83164957e55dde29	Furthermore, history of cervical screening or previous hysterectomy was not included in registry study analysis, possibly leading to underestimation of CC incidence rates.Genital or @DISEASE$ is associated with an increase in high-grade cervical neoplasia and posttransplant HPV positivity.Inflammatory Bowel Disease: There is no strong evidence to support that inflammatory bowel disease alone increases cervical @PHENOTYPICFEATURE$ or cancer risk.	false
+9fe578e7d3a9db01981775be5b79ed824e151f17	Furthermore, history of cervical screening or previous hysterectomy was not included in registry study analysis, possibly leading to underestimation of CC incidence rates.Genital or @DISEASE$ is associated with an increase in high-grade cervical @PHENOTYPICFEATURE$ and posttransplant HPV positivity.Inflammatory Bowel Disease: There is no strong evidence to support that inflammatory bowel disease alone increases cervical neoplasia or cancer risk.	false
+85319d3da72f6f52fac0e3360613b2fea06b704e	Variations in classic @DISEASE$ (LHON) include recovery of vision and association with other @PHENOTYPICFEATURE$.	false
+01b3b33df0a9372f74328949c44326222551c2cd	Diagnosis of @DISEASE$ without @PHENOTYPICFEATURE$.	false
+00e91ad90beab1ccb8377c6176530c402c2d6bfa	Leber's "plus": @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+634c6e702009dd5468de76c2a59e8f58223857f5	The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of @PHENOTYPICFEATURE$ associated with @DISEASE$ (LHON) and to determine the perceptual consequences of auditory neuropathy (AN) in affected listeners.	false
+141637e4ced113f0b3b8f2d504a6c3a250a677a2	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, @DISEASE$, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+711e467d7539d47fc9d80cb4428bb6ffa7acbaea	@DISEASE$ (NS), the most common single-gene cause of congenital heart disease, is an autosomal dominant disorder that also features @PHENOTYPICFEATURE$, facial abnormalities, and an increased risk of myeloproliferative disease.	false
+436bdda6f62d76315564947bf5075ca3b196182c	We hypothesise that some PTPN11 mutations are associated with the typical @DISEASE$ phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin @PHENOTYPICFEATURE$, such as multiple lentigines or caf? au lait spots.	false
+704b11cc8a4d4f3515d8a6d83af0579ad9069776	We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the @DISEASE$ phenotype and with skin @PHENOTYPICFEATURE$, such as multiple lentigines or caf? au lait spots.	false
+ddb7e1aeba07de724e4ebdd29b88384470bcd977	@DISEASE$ (NS) is an autosomal dominant disorder characterized by a wide spectrum of defects, which most frequently include @PHENOTYPICFEATURE$, craniofacial anomalies, and congenital heart disease (CHD).	false
+2070fbf02e2efaeb48ca0f6eab1e29e94bedad91	Evaluation of children with @DISEASE$, @PHENOTYPICFEATURE$, and "Portsmouth" syndrome showed coexistent platelet aggregation defects and nonspecific serum defects.	false
+b897024492c51b305bd88454db847475a8b22f94	@DISEASE$ (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, @PHENOTYPICFEATURE$ and heart disease (most commonly pulmonic stenosis and hypertrophic cardiomyopathy).	false
+f3ff8b32adf40c1431a9a9f8d7308a63b48f8123	We report a child with @DISEASE$, referred with @PHENOTYPICFEATURE$ (height--5.4	false
+2873768a39ac6d9d8958ea9b2092fb9a1e3ba0be	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, facial dysmorphia, increased risk of leukemia, and congenital heart defects in approximately 50% of cases.	false
+b2f48ae915197ae83d3255a6ee95a07b9704906d	The additional phenotypic manifestations in this family-@PHENOTYPICFEATURE$, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities and genital abnormalities-are reminiscent of phenotypes seen with dysregulated Ras-mitogen-activated protein kinase (RAS-MAPK) signalling [@DISEASE$ (NS) and related disorders].	false
+a25c97a735e03f2bc04ea4ca1700c0eb89b08ffc	First, we identified patients with International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes signifying epilepsy or @PHENOTYPICFEATURE$ using Indian Health Service (@DISEASE$) administrative data.	false
+07a9f15d105976b8ef7df23b3d0e83340167a394	The results are based on 70 EEG recordings of fully developed seizures resulting from: (1) moving the animal from its home cage to the testing area, i.e., the naturally occurring environmentally precipitated @PHENOTYPICFEATURE$ (EPS); (2) electrically induced by stimulation of cortical electrodes (ICS); and (3) electrically induced by stimulation of hippocampal electrodes (@DISEASE$).	false
+123967f581ad79a5c194e050250c8bca0cd589f1	The results are based on 70 EEG recordings of fully developed @PHENOTYPICFEATURE$ resulting from: (1) moving the animal from its home cage to the testing area, i.e., the naturally occurring environmentally precipitated seizures (EPS); (2) electrically induced by stimulation of cortical electrodes (ICS); and (3) electrically induced by stimulation of hippocampal electrodes (@DISEASE$).	false
+8f7ba7baa53d9adcdf54a650192765e047e37ca4	Clinical scenarios for @DISEASE$ administration included traumatic brain injury with concern for increased intracranial pressure in 19 patients (34%), diabetic ketoacidosis with altered mental status in 18 (32%), hyponatremia without seizure activity in 6 (10.7%), hyponatremic @PHENOTYPICFEATURE$ in 3 (5.4%),	false
+1a8aefb3faff89b985a9fe221c6a0824941764fd	Clinical scenarios for @DISEASE$ administration included traumatic brain injury with concern for increased intracranial pressure in 19 patients (34%), diabetic ketoacidosis with altered mental status in 18 (32%), hyponatremia without @PHENOTYPICFEATURE$ activity in 6 (10.7%), hyponatremic seizure in 3 (5.4%),	false
+d3b42e4d6b352f322b1c88bf8e9a7776b74d5a09	Neurological manifestations, including peripheral neuropathy, @PHENOTYPICFEATURE$ and cerebral thromboembolic or hemorrhagic disorders, can exist with @DISEASE$.	false
+70dd7ec1969223194c9fcac69b9a0effd21c3f6e	Two percent of Navajo receiving @DISEASE$ care were found to have an ICD-9-CM code consistent with epilepsy or @PHENOTYPICFEATURE$.	false
+0d363a3bf66b43e317ff33406912f759b72ae86b	We report a 2 months old girl affected by @DISEASE$, @PHENOTYPICFEATURE$, syndactyly and a pattern of minor anomalies.	false
+135f561daf2b7014e0dae99f13e1cc33b073dd59	It is occasionally associated with @DISEASE$, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and @PHENOTYPICFEATURE$.	false
+b3e7c3dcdfd98384a315e365bea54b4da999ee32	The internal findings include oligopapillary @DISEASE$, severe congenital heart defect, @PHENOTYPICFEATURE$, pulmonary hypoplasia, hypoplastic larynx, and hypoplastic gallbladder.	false
+91cd01049480f3c91a5e93d1627c4531f8dddfb4	[Kidney transplant in a case of multiple @PHENOTYPICFEATURE$ and bilateral @DISEASE$].	false
+78a099f0041a110dafd5b79e5c3cf0f9ddfb42e3	The most common @PHENOTYPICFEATURE$ seen are @DISEASE$, obstructive uropathy and glomerular microcysts.	false
+8f06f14f82e9cff63c4396ffb20ae63326257449	The cause of end-stage renal failure was reflux nephropathy in one, @PHENOTYPICFEATURE$ in one, and @DISEASE$/dysplasia in three patients.	false
+cbda5931e5375881946db3dbab746f4fdd2af4bc	In addition to the typical features, our case also shows @DISEASE$ with early renal insufficiency and some @PHENOTYPICFEATURE$.	false
+edd0461a3625514b2f33cc52bfa9f988f6697fb8	A "new" lethal multiple congenital anomaly syndrome: joint contractures, @PHENOTYPICFEATURE$, @DISEASE$, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.	false
+2b051b2b010bece878177637a0a8473c3a3b4f06	A "new" lethal multiple congenital anomaly syndrome: @PHENOTYPICFEATURE$, cerebellar hypoplasia, @DISEASE$, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.	false
+e23a7ef8f52dfd13cc6449f73f25097a0a7cedc3	Contralateral @PHENOTYPICFEATURE$ were detected in 41% of the fetuses and included obstruction of the ureteropelvic junction, renal agenesis, @DISEASE$, and bilateral MDK.	false
+63f769133f609dadce5e2c6a247fd2d7fd3f645b	@DISEASE$ (HH) is a common autosomal recessive disorder that can result in iron overload and a wide range of clinical complications, including hepatic cirrhosis, diabetes mellitus, @PHENOTYPICFEATURE$, hypogonadism, arthritis, and cardiomyopathy.	false
+f57ed0556268654843050b6e8652e15ed1770a08	Clinical report of three patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c056bff9add52a260402bdc146aa51d5e1bf5696	Young individuals who should be screened for iron overload include patients with cardiac @PHENOTYPICFEATURE$, hypogonadism, amenorrhea, loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the liver, and arthritis, as well as the siblings, parents, and children of patients with @DISEASE$ or iron loading of unknown cause.	false
+641ffc767876ea762bcb931a91cfe7e2077ec51e	Congenital @PHENOTYPICFEATURE$ with @DISEASE$ without pathogenic mutations in the HFE gene.	false
+a04d8975abd7c60d0252fc979afbf73d0c388863	Based on a clinical survey, we determined that half of @DISEASE$ patients have a small head circumference, and 15% have social, language, motor, or @PHENOTYPICFEATURE$.	false
+1caa1d8edc27301dd7401785b795af77778eff73	@PHENOTYPICFEATURE$ and preventive oral care in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b89f9a9b8937d1d8221ce051ee9ead2cb4a55615	We conducted a controlled study to investigate the relation of iron status and first @PHENOTYPICFEATURE$ (@DISEASE$).	false
+9488518dcd35b36f823647ee47fa6cec245e51f3	In a univariate analysis, age, a high comorbidity index, a performance status of 3 or 4, a lack of co-trimoxazole prophylaxis, early @PHENOTYPICFEATURE$, and disease activity parameters (such as the albumin level, haemoglobin level, peak SCr level, dialysis status, and high @DISEASE$) were significantly associated with one-year mortality.	false
+8b7594f482eb9a60bba97a21886f113baf79f5df	@DISEASE$ and @PHENOTYPICFEATURE$ are frequently observed with aromatase inhibitors.	false
+4a2959731a805ad0b79e53b26bb9e639cc38c526	The clinical presentation of LPI includes gastrointestinal symptoms, @PHENOTYPICFEATURE$, episodes of coma, hepatosplenomegaly and @DISEASE$.	false
+7c1c5ff8b9fcef2618ed1197225cf02a3bd012a0	In addition, mid-@PHENOTYPICFEATURE$, short stature, skeletal anomalies and @DISEASE$ are common.	false
+f03290be696d6266957b7fefe465b04602e664e0	At elevated levels, homocysteine (Hcy, 1) is a risk factor for cardiovascular diseases, Alzheimer's disease, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+1e36699d6c74333631f2aae3161b32063127ea88	Vibration exercise is a new and effective measure to prevent @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8e735f81bae369ebe6fb147cec2c5660531d5e57	Common impairments include pain, fatigue, upper-extremity dysfunction, lymphedema, weakness, joint @PHENOTYPICFEATURE$, neuropathy, weight gain, cardiovascular effects, and @DISEASE$.	false
+256251e8719c98cf20b7cf54d8609b210afc635a	@PHENOTYPICFEATURE$ and @DISEASE$).	false
+be33e8c95d9fb56902646257e9f2e2dcc1fa8616	- Aromatase inhibitors are associated with specific side effects consisting of @DISEASE$/increased incidence of fractures and myalgia/@PHENOTYPICFEATURE$.	false
+b8feee00c2bfd324bba227e9d74f8068be4a35a7	These additive effects of obesity ultimately increase the risk for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c7fd018517e267f00be2e3fbf293e082eb76d4b9	Thyromimetic agents that can treat dyslipidemia without adverse effects like @PHENOTYPICFEATURE$ and @DISEASE$ are attractive options.	false
+774f0e8526c9d64e906ffb1c1f6e8825a54b643c	Medical history included @DISEASE$ (HD), horseshoe kidney, azoospermia, and @PHENOTYPICFEATURE$.	false
+17fb8c0f13b092b43d41cc4486166c9f4d479d52	Disruption of these pathways have been implicated in several congenital disorders of the digestive system, including @DISEASE$, malrotation, altered sphincter development, Meckel diverticulum, @PHENOTYPICFEATURE$, Alagille syndrome, pancreatic heterotopias, and pancreatic agenesis.	false
+859eaa84c52be13eddb207df188d142c0064de76	57% had gastrointestinal anomalies (31% malrotation, 31 % @PHENOTYPICFEATURE$, 17% @DISEASE$).	false
+cdc1d0b89873a0dfee3da1f7f0877d1fa10ba08e	Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A @PHENOTYPICFEATURE$ of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and @DISEASE$.	false
+8723300aee04f5b26d9ad9d5801aa2e30713017e	To report the case of a newborn with recurrent episodes of @PHENOTYPICFEATURE$, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with @DISEASE$ (HD), configuring Haddad syndrome.	false
+44c8df23b14adfbda4b426335afea3865564fac3	A two year old girl with @DISEASE$ suffered from @PHENOTYPICFEATURE$.	false
+dd5e2cb0d1e4cda30ffd868692b800d8e249a2bb	Comparison of regional systolic myocardial velocities in patients with isolated @PHENOTYPICFEATURE$ and patients with idiopathic @DISEASE$.	false
+dd5e2cb0d1e4cda30ffd868692b800d8e249a2bb	Comparison of regional systolic myocardial velocities in patients with isolated @PHENOTYPICFEATURE$ and patients with idiopathic @DISEASE$.	false
+519ccaec13b59af28b21356bf806611904694463	A patient with @DISEASE$ had also @PHENOTYPICFEATURE$, microcephaly, and developmental delay.	false
+1e8ba0e016a5a8d16ed8868b46ac980624c65970	Phenotypes include hypertrophic cardiomyopathy, @DISEASE$, restrictive cardiomyopathy, @PHENOTYPICFEATURE$ and arrhythmogenic right ventricular cardiomyopathy.	false
+1ee5ed555acc35e15f6043162c20adb358c159c2	Inherited cardiomyopathies include hypertrophic cardiomyopathy, @DISEASE$, arrhythmogenic right ventricular cardiomyopathy, @PHENOTYPICFEATURE$, and restrictive cardiomyopathy.	false
+50fb8999ed39b36f3bc37e3745bab0cee4bc8a3e	[Comparison of clinical and MRI features between @DISEASE$ and @PHENOTYPICFEATURE$].	false
+76d2c8fb7c9c9b4b5411bbb5d86ca22658ba1e2f	To characterize the clinical and cardiac MRI features of @DISEASE$ (DCM) and @PHENOTYPICFEATURE$ (LVNC).	false
+1daaa6c7c46b86251da85f09804a005716331015	Many mutations of cardiac Tm are related to hypertrophic cardiomyopathy (HCM), @DISEASE$ (DCM), and @PHENOTYPICFEATURE$ (LVNC).	false
+8af8bfa3fb751eeaaf8db1232b5f81bd41298da7	It may be associated with acanthosis nigricans, @PHENOTYPICFEATURE$, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, @DISEASE$ and short stature.	false
+bed90c8e90476202a432ded0ca82f05a07c4e51c	It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+120af19e8835a058b57b6ff73ee99eccef99029c	Hypertrophic and @DISEASE$ and @PHENOTYPICFEATURE$ are the main cardiac manifestations occurring in mitochondrial cytopathies.	false
+b8dcd678369a6bddd236cb74302aeb73c7c31d9f	To study the efficacy of acellular human dermal (@DISEASE$) allograft as a material for static slings used to treat @PHENOTYPICFEATURE$ of the oral commissure after facial paralysis.	false
+cc4866af9518ed184b892340ff0ea2e9859d214a	We report on a patient with Allan-Herndon-Dudley syndrome (@DISEASE$) with profound @PHENOTYPICFEATURE$ which is not usually a feature of AHDS and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).	false
+f628cac67a404c493df8caf553b396b12b2cf6ed	We report on a patient with Allan-Herndon-Dudley syndrome (AHDS) with profound @PHENOTYPICFEATURE$ which is not usually a feature of @DISEASE$ and which may have been due to a coexisting nonsense mutation in Microphthalmia-associated transcription factor (MITF).	false
+58ab27ee29e39ce8b60652f94203d3fc4e2839dc	We herein report a 5-year-old boy who developed unexpected agranulocytosis with fever approximately one week after recovering from the typical symptoms of @DISEASE$, characterized by fever, rash, lymphadenopathy, and hepatitis, but lacking @PHENOTYPICFEATURE$ or lymphocytosis.	false
+7229c5edf566a13a034e0f03c4232061bc2a72d8	Early vitrectomy and intravitreal injection of vancomycin may improve visual outcomes, but infection with @DISEASE$ may be associated with @PHENOTYPICFEATURE$ surgery wound failure and poor visual outcomes.	false
+af8f307f269e21d29f775356168d0919e5eaa658	Early vitrectomy and intravitreal injection of vancomycin may improve visual outcomes, but infection with @DISEASE$ may be associated with cataract surgery wound failure and @PHENOTYPICFEATURE$ outcomes.	false
+05dbf0e77f067e5a9e39711a49a87a4617a3f639	@DISEASE$ infection appeared to be associated with wound failure from the initial cataract surgery and a @PHENOTYPICFEATURE$ outcome.	false
+8142b1e45503a3fbf33efcd78fe91a5353d52263	Hypoxemia measurements were compared between sleepy (ESSS ? 10) and nonsleepy (ESSS<10) patients before and after dichotomizing the cohort for each @PHENOTYPICFEATURE$ variable (and for @DISEASE$) such that there were 35 (165) patients in each of the corresponding higher (lower) subcohorts.	false
+b22a994b54d9022840660f1e89bf15075d2964df	In @DISEASE$ only we observed, by comparison with predialysis values, a significant @PHENOTYPICFEATURE$, and a decrease of alveolar ventilation (VA), lung carbon dioxide output, and respiratory exchange ratio.	false
+57751407e487cfeb7dde9c09eb0716d19bc5bc59	This study evaluated anterior hyaloid damage (@DISEASE$), AHD-related Nd:YAG laser parameters, and retinal complications in subjects that underwent Nd:YAG laser posterior capsulotomy for @PHENOTYPICFEATURE$.	false
+92dabdd3bd0919724ee8075098f2389fba7e6414	@DISEASE$ infection in patients with @PHENOTYPICFEATURE$ and sensorineural hearing loss.	false
+15130f6393107039fc2356897e6091bd4f182a9e	We conclude that the patients with @DISEASE$ sometimes present @PHENOTYPICFEATURE$/dizziness, but rarely gait ataxia as a sole symptom.	false
+9835737949b28abd0e9458786f7e4d525a0c871e	Four of the @DISEASE$ patients had positional @PHENOTYPICFEATURE$ and all 10 had positional nystagmus when tested using ENG.	false
+e1342c53d87aba8ec131ed247525b9581b10cba8	Movement Disorder-Childhood Rating Scales (@DISEASE$-CRS) have been designed in two forms (0-3 and 4-18 years) to accurately evaluate various @PHENOTYPICFEATURE$ in children.	false
+2c19554bb9f56dde4088d809aacf4768b32b63e8	The Systematic Review of Determinants of Neurological Conditions, a specific objective within the NPHSNC, is a compendium of systematic reviews on risk factors affecting onset and progression of the following 14 priority neurological conditions: Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), brain tumours (BT), @PHENOTYPICFEATURE$ (CP), dystonia, epilepsy, Huntington's disease (HD), hydrocephalus, multiple sclerosis (MS), muscular dystrophies (@DISEASE$), neurotrauma, Parkinson's disease (PD), spina bifida (SB), and Tourette's syndrome (TS).	false
+a9522b0a76a9140bd003c368fdcd3ac04f4e2051	Most often TB is associated with other birth defects such as another tracheo-bronchial tree malformation, @PHENOTYPICFEATURE$, @DISEASE$ or in the context of a syndromic pattern.	false
+ae9bb75e141413edf1f1f60097e627d4d36fd01a	@PHENOTYPICFEATURE$, @DISEASE$, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.	false
+c3ba75e5e4d987e15f30ea02977c9e6b4de46c4d	We describe a 3-year-old girl with @PHENOTYPICFEATURE$, @DISEASE$, and subtle dysmorphic facial features.	false
+6ed52d479219e392e9bf068982cb1a3e28859542	Down syndrome is one of the major causes of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d3db4f7e59c27bd00c331b7ea55b18d52659e8eb	Recurrent copy number variants of the q21.1 region of chromosome 1 have been associated with variable clinical features, including developmental delay, mild to moderate @PHENOTYPICFEATURE$, psychiatric and behavioral problems, @DISEASE$, and craniofacial abnormalities.	false
+6ac407fe8bd0bae8475993e19c39ae5920b10310	The next most frequent defects were those of urinary tract (agenesis or renal hypoplasia 13 times, kidney cystosis 25 times, hydronephrosis 31 times, other congenital malformations 10 times), @DISEASE$ (dealt with in another presentation), defects of neural tube (anencephaly 18 times, encephalocoele 6 times, @PHENOTYPICFEATURE$ 22 times), congenital malformations of skeletal and muscular system (46 times) and defects of abdominal wall (omphalocoele 10 times, gastoschisis 25 times).	false
+f343c987cb861b888198917947f7040c46e672eb	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, @PHENOTYPICFEATURE$, skeletal deformity, and @DISEASE$.	false
+65cff0e128d6c9d483f013bbdc2c2d747c0d3271	New onset of @DISEASE$, ear diseases, eye disorders, autism, hypothyroidism, diabetes, and obesity were more frequent in childhood and remained elevated in adulthood (overall IRR 35.5, 1.7, 3.1, 4.4, 13.1, 1.3, and 2.6 respectively), whereas the gap widened in adulthood for epilepsy and @PHENOTYPICFEATURE$ (IRR 15.2 and 158 respectively, in participants older than 30y).	false
+45749e4ff869daa6db68daa72a20dbce55c6359e	Adverse pregnancy outcomes, including @DISEASE$, facial clefts, spina bifida aperta, hypospadias, growth retardation, and psychomotor and @PHENOTYPICFEATURE$, are associated with, although not necessarily caused by, AED exposure.	false
+6e70ed7dae7ef996c6dc6180de97d192e5ea8433	Aortic morphometry and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+55023cebebc566cab0be9b376ef5a2b502e93ee9	Further investigation into the regulation of angiogenesis in the fetus and placenta may elucidate the causes of @DISEASE$ and associated @PHENOTYPICFEATURE$ in some cases.	false
+4351419936f732d549798d90e77f456472e16672	The purpose of our study, therefore, was to define the prevalence of @PHENOTYPICFEATURE$ in full-term infants with @DISEASE$, and to investigate potential cardiac risk factors for microcephaly.	false
+014e76c8d70fcafcad1dcef115234b60d38e9fe8	The purpose of our study, therefore, was to define the prevalence of microcephaly in full-term infants with @DISEASE$, and to investigate potential cardiac risk factors for @PHENOTYPICFEATURE$.	false
+b178d90b5c4dbe767ba8f7035833bc60c7356c63	A 5-month-old boy with @DISEASE$ developed chylothorax and @PHENOTYPICFEATURE$ of the left upper arm more than 2 months after recovering from a Norwood stage II operation.	false
+f6a08005f66913930a664c35fe0312eadcae07b0	Data from 43 pediatric hospitals in the 2004 to 2011 Pediatric Health Information System database were used to identify patients ?18 years of age admitted with International Classification of Diseases-9th Revision codes for a diagnosis of either @DISEASE$ (HLHS), tricuspid atresia (TA) or common ventricle (CV), and a @PHENOTYPICFEATURE$.	false
+1755908f688fdf99f0e868af57d5e20763aff622	Data from 43 pediatric hospitals in the 2004 to 2011 Pediatric Health Information System database were used to identify patients ?18 years of age admitted with International Classification of Diseases-9th Revision codes for a diagnosis of either hypoplastic left heart syndrome (@DISEASE$), tricuspid atresia (TA) or common ventricle (CV), and a @PHENOTYPICFEATURE$.	false
+948a66fe89520f3f3f8c2767b28d9158422b06d8	Babies with @DISEASE$ (median 3, interquartile range 2-6), transposition of the great arteries (median 1, interquartile range 0-4.5), and @PHENOTYPICFEATURE$ (median 0.5, interquartile range 0-1) had a significantly earlier time to first intervention compared with those with other conditions (p = 0.001).	false
+29df8e0a47b9a5673c5a02774757b88f0f566d01	@PHENOTYPICFEATURE$ is common in infants with @DISEASE$ and its variants and those with poor growth may be at risk for worse surgical and neurodevelopmental outcomes.	false
+5a4fa0a34166e712af28f5a0d58c1b10e981a3cc	We conclude that @PHENOTYPICFEATURE$ was common in this cohort of neonates with @DISEASE$, with the size of the head being disproportionately smaller than weight and length at birth.	false
+af5ada139becbeee20206bbcb7dff22407e5a376	Other common malformations were double outlet right ventricle (14%), pulmonary atresia with ventricular septal defect (8%), total anomalous pulmonary venous connection (7%), d-transposition of the great arteries (9%), tricuspid valve anomalies--tricuspid atresia and @PHENOTYPICFEATURE$--@DISEASE$, truncus arteriosus, and complex CHD such as single ventricle.	false
+231c99f504b3f1191262ee4e1eb7cc45bd927fbf	These birth defect groups were anencephaly, spina bifida, total @PHENOTYPICFEATURE$, cleft palate, cleft lip with or without cleft palate, anomalies of the pulmonary valve, anomalies of the aortic valve, @DISEASE$, and congenital dislocation of the hip.	false
+c05b025f2fba3f9c93c2c9c6a3b25ee2a6d80d5a	Causes included atresia of the foramen of Monro, toxoplasmosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cb2706564c1d2c6215ebd3499d690c477608f991	The @DISEASE$ is a very rare disorder with early @PHENOTYPICFEATURE$ and was first reported by Marshall et al. in 1971.	false
+f7f07fe52d40c2c41c26cb56df469d4dfa827621	Only 15 point mutations in NFIX gene have been reported so far, nine of them cause the @DISEASE$ (MSS) and the remaining mutations lead to an @PHENOTYPICFEATURE$ disorder with a less severe phenotype, defined as Sotos-like.	false
+e21601503a9e1f659bc5330aa03240246091f5e7	The @DISEASE$ (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and @PHENOTYPICFEATURE$.	false
+038d9619fb7bda6e1a4215957de40d28041b2f9b	The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar @PHENOTYPICFEATURE$ condition resembling Sotos Syndrome as well as in patients with @DISEASE$.	false
+9c3d923f6574dcedf7a326fa3349f40f4b398869	The @DISEASE$ is characterised by @PHENOTYPICFEATURE$, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree.	false
+236692715e6a7d0dcca5d87c040a710acb08b995	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation.	false
+af6351a4cd035de405914fe7abb4265c366329d8	Multiple squamous cell carcinomas can be related to: xeroderma pigmentosum, Ferguson-Smith, @DISEASE$, Mibelli-type porokeratosis, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Rothmund-Thomson syndrome, Bloom syndrome, and epidermodysplasia verruciformis.	false
+b3196f5d9446ad93fddb1a97d3d411acaf8dca14	Serous @DISEASE$ is sometimes caused by hypertensive disorders in pregnancy and its associated conditions, in which the predominant eye symptoms are blurred vision, distorted vision, and @PHENOTYPICFEATURE$.	false
+0036b4785f9ef559bc51d7006f4b2065459a02b0	Seven patients presented with exophthalmos, 6 with upper lid swelling, 5 with double vision, 5 with @PHENOTYPICFEATURE$ and one patient with @DISEASE$.	false
+4c39f768e72341192e85e5e5eb4206a146faf9a2	Retinoschisin protein is secreted principally in the outer retina, and its absence results in retinal cavities, synaptic dysfunction, @PHENOTYPICFEATURE$, and susceptibility to @DISEASE$.	false
+01b2fb6d34bb080355b91efd3fa4459794e81a77	Ten eyes treated for retinal detachment were enucleated because of recurrent tumor (four eyes), @DISEASE$ (three eyes), wound dehiscence (one eye), phthisis (one eye), and @PHENOTYPICFEATURE$ (one eye).	false
+83bba1843a57bd00b5230d5aba72d37e7712ac8a	Ten eyes treated for @DISEASE$ were enucleated because of recurrent tumor (four eyes), retinal detachment (three eyes), wound dehiscence (one eye), phthisis (one eye), and @PHENOTYPICFEATURE$ (one eye).	false
+a406b0b80f9b4463c2b548dd7aaaf35aac8c33ba	A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and @DISEASE$, and severe neurological abnormality: bilateral pyramidal involvement, fasciculation in all limbs and @PHENOTYPICFEATURE$.	false
+ea21309a44040862fdc61d4c677f611788af0540	During maintenance therapy with valganciclovir, the most commonly reported adverse events included neutropenia, anaemia, thrombocytopenia, gastrointestinal (including diarrhoea, nausea, vomiting and @PHENOTYPICFEATURE$), fever, headache, insomnia, peripheral neuropathy, paraesthesia and @DISEASE$.	false
+afe800b47f706d48db77c2eb3c71e0540eb49593	During maintenance therapy with valganciclovir, the most commonly reported adverse events included neutropenia, anaemia, thrombocytopenia, gastrointestinal (including diarrhoea, nausea, @PHENOTYPICFEATURE$ and abdominal pain), fever, headache, insomnia, peripheral neuropathy, paraesthesia and @DISEASE$.	false
+d890af462264b7c07e561f57a2a91b07c8694016	Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had @DISEASE$, and 2 showed skeletal abnormalities of the hands, ie, @PHENOTYPICFEATURE$ or syndactyly or missing a hand digit.	false
+50044e3061e07cec54b2ea1741d6760321ec46aa	In animal models of various retinopathies, e.g., retinal ischemia, @PHENOTYPICFEATURE$, @DISEASE$, and diabetes, it was found that M?ller cells decrease the expression of their major potassium channel (Kir4.1).	false
+52ab63bb1ed9622a2f64a59127ca7fad80ef6ec3	Decalcification and secondary complications of serous @DISEASE$, choroidal neovascularization, and geographic atrophy altered foveal autofluorescence and were associated with @PHENOTYPICFEATURE$.	false
+29bb0fa279cf2995981f6141d370eee40903b4e6	Early diagnosis by primary care physicians and parental education about the condition are essential for prevention of @DISEASE$, developmental delay, and @PHENOTYPICFEATURE$.	false
+77cf5ed1bb879cf205d0193db90e5df1f156be80	@PHENOTYPICFEATURE$-@DISEASE$ in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.	false
+5641eb3e48fce3c488072ea94f0561534a4db997	We report the autopsy case of a boy with @DISEASE$, associated with @PHENOTYPICFEATURE$ and dentato-olivary dysplasia.	false
+846cd8f386f8c1fa0d08a68ab939bab5985aed75	Here, we present two female siblings with @DISEASE$, optic atrophy and @PHENOTYPICFEATURE$.	false
+ca65d398db6612777e2fa598325e09392de397de	A term male infant with @DISEASE$ and @PHENOTYPICFEATURE$ is described.	false
+c736e4e21e8d9dedf3da30f5c3d539e93bbe75c0	[The @DISEASE$ with @PHENOTYPICFEATURE$].	false
+be433fd13a47eeb9fb9b38e6a4e4a17379c65cdf	Part II: peripheral neuropathies, Friedreich's @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5fa11cea16b6064ec7cccb518dcbe9e514bb2804	@DISEASE$ in an infant with posterior @PHENOTYPICFEATURE$.	false
+5896a5f815969bed30ff45cba62eea24f9eb6e56	@DISEASE$ with @PHENOTYPICFEATURE$ and dentato-olivary dysplasia.	false
+c31afc407436f894ab00a761de978adb1d068298	@DISEASE$, @PHENOTYPICFEATURE$, whistling face, and Pierre Robin sequence: another case.	false
+fc4038360428fa61bbcd85d4744cac19406b5c56	Syndrome of @PHENOTYPICFEATURE$ and @DISEASE$ in sibs.	false
+78dde9b690cae7bc77f7c3b4b1340015e5ebad67	The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: @DISEASE$, iliac horns on X-ray as well as @PHENOTYPICFEATURE$, renal and ocular abnormalities.	false
+79b4cf0a7b70090b6cceef2936d56811ce2b5213	Mutations in the MITF have been found in patients with the dominantly inherited @PHENOTYPICFEATURE$ and deafness syndromes @DISEASE$ (WS2A) and Tietz syndrome (TS).	false
+12fb3e1b1be60fb90de4107464177ebdfd1eeef9	In humans, MITF mutations cause @DISEASE$ (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and @PHENOTYPICFEATURE$.	false
+38d81c355d95ed599c7c09dd1f06e21848a2501f	According to the clinical features of pericarditis, @PHENOTYPICFEATURE$ and leucocytosis, patients were divided into three groups: (1) complete @DISEASE$ with all three symptoms, (2) incomplete PPS with two symptoms and (3) no PPS with one or no symptoms.	false
+a74029595f2ef63fb98e98c284920d487e52ce84	According to the clinical features of pericarditis, @PHENOTYPICFEATURE$ and leucocytosis, patients were divided into three groups: (1) complete PPS with all three symptoms, (2) incomplete @DISEASE$ with two symptoms and (3) no PPS with one or no symptoms.	false
+9d8a674264d1a96c4aeb4c630a28218e28a4de23	According to the clinical features of pericarditis, @PHENOTYPICFEATURE$ and leucocytosis, patients were divided into three groups: (1) complete PPS with all three symptoms, (2) incomplete PPS with two symptoms and (3) no @DISEASE$ with one or no symptoms.	false
+6138d2f4eb6adacd8744a0e177697c0c8c88fdc1	Post-pericardiotomy syndrome (@DISEASE$) occurs in a subgroup of patients who have undergone cardiothoracic surgery and is characterized by @PHENOTYPICFEATURE$, pleuritic pain, pleural effusion, and pericardial effusion.	false
+03f1a163130ef4a58b5bfa8178ff2037eccd6c37	Postoperative @PHENOTYPICFEATURE$ and pericardial-pleural reaction, designated postpericardiotomy syndrome (@DISEASE$), is a common complication of cardiac surgery involving entry into the pericardium.	false
+c0b2c43ba9ebacc160e9b7f812e1c13d16054966	Peters plus syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, @PHENOTYPICFEATURE$, developmental delay, and variable other systemic abnormalities.	false
+c4ea80da6d9d7aecfd0dc19809f1088c189f19cf	Peters plus syndrome (@DISEASE$) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, @PHENOTYPICFEATURE$, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities.	false
+8b6540ac703a148456196b52cdde294b781bd319	Peters Plus Syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by ocular defects, @PHENOTYPICFEATURE$, brachydactyly, characteristic facial features, developmental delay and other highly variable systemic defects.	false
+9fb6b58f9bb842129218e1c7b4d3b64af38cfd03	@DISEASE$ causes @PHENOTYPICFEATURE$, pneumothorax, chylous pleural effusions, and eventually respiratory failure.	false
+16c4eb3a848e9530d905059b45ce3a16b05df2c8	Most @DISEASE$ @PHENOTYPICFEATURE$ had a combination of somatic MMR gene mutation and loss of heterozygosity.	false
+6808ceee4b3509e15f1ca8654bc5569b263a810e	We performed germline sequence analysis in @DISEASE$ patients and determined their @PHENOTYPICFEATURE$'s mutational profiles using FFPE DNA.	false
+f821c26690f0331bf0d79b4a6a56cd6241a2c2fd	No clear association was found between @DISEASE$ and occurrence of pain, development of @PHENOTYPICFEATURE$, or risk of falls.	false
+eb8075bf5219bb59b9ea6d52f8fdac36a8f62d52	@DISEASE$ @PHENOTYPICFEATURE$ were profiled for CpG Island Methylator Phenotype (CIMP) and somatic mutations in 578 cancer-relevant genes.	false
+08f27ac70c6a131119ac1df866aa0a6453f8e507	As a conclusion we found that 20% of patients with EO NP NF CRC have MMRd @PHENOTYPICFEATURE$, and at least half of these are likely to have @DISEASE$.	false
+cc5e1aa7a5cda48ea7e03c3c212195698b05cf05	Our purpose was to define the clinical and broader molecular hallmarks of @DISEASE$ @PHENOTYPICFEATURE$ and the population incidence of LLS, which remain poorly characterized.	false
+3a013249184c5e849a4b3b78d9be553080c86691	Our purpose was to define the clinical and broader molecular hallmarks of LLS @PHENOTYPICFEATURE$ and the population incidence of @DISEASE$, which remain poorly characterized.	false
+d8aae33bce8e8af76a4fcb701e90b2381f74587d	Double somatic events inactivating MMR genes are involved in the etiology of @DISEASE$ @PHENOTYPICFEATURE$.	false
+926f8107f7413b8ce7bf7d9b0f3ce5e9a0cf4a00	Demographic and @PHENOTYPICFEATURE$ characteristics of robotic and laparoscopic @DISEASE$ were similar.	false
+f903e772474b2a9431421be1a2a9178803ac0ac8	Moreover, tumors from this group had a distinct mutational signature compared to @PHENOTYPICFEATURE$ from @DISEASE$ patients lacking germline mutations in these genes.	false
+2d2c571d3b7cce156cfe726fc1497e766af5f3d6	Moreover, @PHENOTYPICFEATURE$ from this group had a distinct mutational signature compared to tumors from @DISEASE$ patients lacking germline mutations in these genes.	false
+2e1530146e988d263afbfed67b0f50403f9b01ac	During the first 10 years, the procedures were limited mainly to minor hepatectomy and @DISEASE$, and the indications were limited to benign-borderline @PHENOTYPICFEATURE$ and living donor.	false
+4b3132d53c02ea6d5169a2b07501d2138690f1fa	This can result in diseases, like severe renal diseases hemolytic uremic syndrome (@DISEASE$) and dense deposit disease (DDD), in age related macular degeneration a common form of @PHENOTYPICFEATURE$ and also in other forms of autoimmune diseases.	false
+7e69904506a5114e13e5c5465989d531891f1aae	This can result in diseases, like severe renal diseases @DISEASE$ (HUS) and dense deposit disease (DDD), in age related macular degeneration a common form of @PHENOTYPICFEATURE$ and also in other forms of autoimmune diseases.	false
+68e6675add07752aba869369f2e18bacaede74e5	Late onset seizures, hemiparesis and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9eb68abb463bdd3fd2f493702c998472c20c50d7	@PHENOTYPICFEATURE$ and fever may precede and predict @DISEASE$ in patients with E. coli O157:H7 infection.	false
+c9e94086ee3443735e1f70411c9141bcb08d9f7b	Previously reported associations of reversible posterior leukoencephalopathy syndrome include hypertension, vasculitis, nephrotic syndrome, severe @PHENOTYPICFEATURE$, @DISEASE$, eclampsia, renal failure, and use of immunosuppressive drugs.	false
+67d1f1d2b4758b85abfa808806ed5042a6a22ff1	After prolonged intake of oral contraceptives a 28-year-old woman developed a @DISEASE$ with microangiopathic hemolytic anemia, renal failure, malignant hypertension and @PHENOTYPICFEATURE$ due to papillary congestion.	false
+1b925c5e4ac063dc272660d8eb494c9d42fb8364	Deaths were significantly higher among those who had altered consciousness, @PHENOTYPICFEATURE$, septicaemia, paralytic ileus, toxic colitis, necrotizing enterocolitis, @DISEASE$, invasive or persistent diarrhoea, dehydration, electrolyte imbalances, and malnutrition.	false
+612b1cddd17423b09176366b78ba44ac6a0150cf	Serum creatinine levels were normalized in case 1 and they remained at about 2 mg/dl in case 2. Hyporeninemic @PHENOTYPICFEATURE$ was transiently seen in case 2. These data suggest that recovery from the acute phase of @DISEASE$ leads to a good long-term prognosis in MMC nephropathy.	false
+004dfbe2738ae17b999740a653cdd8dcde391992	As well as the local manifestations of dysentery, systemic complications include convulsions, @DISEASE$, hyponatraemia and @PHENOTYPICFEATURE$.	false
+1594e8be88ba3fcaad726981ac508390416326bb	@PHENOTYPICFEATURE$ and leukemoid reaction, microhematuria, and non-resolving hyponatremia distinguished children with @DISEASE$ from those with dysentery.	false
+50b39acc449e0436fc57fe7051ef68b4900076df	The association between tau-induced changes in the neurosensory retina and reduced optic nerve volume in mice, combined with the observation of @PHENOTYPICFEATURE$ in clinical FTD suggests that ophthalmic tau pathology may also exist in the eyes of @DISEASE$ patients.	false
+21afa37c7b990b26dfd523d6f2ec7913c7e26fb7	The association between tau-induced changes in the neurosensory retina and reduced optic nerve volume in mice, combined with the observation of @PHENOTYPICFEATURE$ in clinical @DISEASE$ suggests that ophthalmic tau pathology may also exist in the eyes of FTD patients.	false
+430fc0d92e75e4d7871c35b419b038f007449976	This report serves as a reminder that @DISEASE$ should be included in the differential diagnosis of disorders causing @PHENOTYPICFEATURE$.	false
+cac257c9f23bbb846fe928a3d1b2b6bb10e7f2cd	The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or @DISEASE$, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharidoses, and Salla diseases), mitochondrial disorders (including mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, Leigh disease, and Kearns-Sayre syndrome), urea cycle disorders, several organic acidemias (including phenylketonuria, maple syrup urine disease, 3-hydroxy-3-methylglutaryl colyase deficiency, glutaric acidurias, methylmalonic academia, proprionic academia, 3-methylglucatonic aciduria, and 2-hydroxyglutaric acidurias), cytoskeletal or transporter molecule defects (including Alexander or fibrinoid leukodystrophy, proteolipid protein-1 defect or Pelizaeus Merzbacher, Wilson, and Huntington diseases), and several neurodegenerative disorders of brain iron accumulation.	false
+c9fccc6e8b2a0a9d8e0d0a2aed33201524149c7a	We report the magnetic resonance findings of diffusion-weighted imaging, perfusion-weighted imaging, and spectroscopy in a patient with a necrotic @DISEASE$, in whom clinical symptoms and signs suggested a @PHENOTYPICFEATURE$.	false
+19e529264b2f00e1e025bc59d452b920747b890b	Differentiation between intraspinal @PHENOTYPICFEATURE$ and @DISEASE$ by MR characteristics and clinic features.	false
+06711ad441331e604f6bd3d82c4eb0593747a3b5	They include cranial and intracranial manifestations (orbitosphenoid dysplasia, bone defects of the skull, acoustic neuroma, glioma of the optic nerve and chiasm, @DISEASE$), spinal lesions (scoliosis, vertebral scalloping, meningocele, neuroma, ependymoma), @PHENOTYPICFEATURE$ (pseudarthrosis), cardiovascular manifestations, pulmonary fibrosis, tumors of the gastrointestinal and urinary tract and different endocrinopathies.	false
+e2dcbb0a6c429902366e1f56d29ffc1ef310c4a2	In @DISEASE$ (HD), dystonia as well as parkinsonism and @PHENOTYPICFEATURE$ may be the predominant motor signs rather than chorea.	false
+30abf53836e3d767173b229525bcaed089d443cf	Mutations in OTOF gene, encoding otoferlin, cause @DISEASE$ @PHENOTYPICFEATURE$ and non-syndromic auditory neuropathy (AN).	false
+d556cc175add2b8202be7c3e801e1385f5332bcd	Mutations in otoferlin, a C2 domain-containing ferlin family protein, cause non-syndromic hearing loss in humans (@DISEASE$ @PHENOTYPICFEATURE$).	false
+b0e25b3dd67d464b264bd264c9c7ce96b025cb4e	This is illustrated by three different examples: (1) the @DISEASE$ @PHENOTYPICFEATURE$ form, a synaptopathy of the cochlear sensory cells where otoferlin is defective; (2) the Usher syndrome, in which deafness is related to abnormal development of the hair bundle, the mechanoreceptive structure of the sensory cells to sound; (3) the DFNB1 deafness form, which is the most common form of inherited deafness in Caucasian populations, mainly caused by connexin-26 defects that alter gap junction communication between nonsensory cochlear cells.	false
+ec4c79a0d19d7bd6c27e941143b100330207a515	This is illustrated by three different examples: (1) the @DISEASE$ deafness form, a synaptopathy of the cochlear sensory cells where otoferlin is defective; (2) the Usher syndrome, in which @PHENOTYPICFEATURE$ is related to abnormal development of the hair bundle, the mechanoreceptive structure of the sensory cells to sound; (3) the DFNB1 deafness form, which is the most common form of inherited deafness in Caucasian populations, mainly caused by connexin-26 defects that alter gap junction communication between nonsensory cochlear cells.	false
+62d44c0cb5ccb4069d06d2b74fb0da20988bf12c	This is illustrated by three different examples: (1) the @DISEASE$ deafness form, a synaptopathy of the cochlear sensory cells where otoferlin is defective; (2) the Usher syndrome, in which deafness is related to abnormal development of the hair bundle, the mechanoreceptive structure of the sensory cells to sound; (3) the DFNB1 deafness form, which is the most common form of inherited @PHENOTYPICFEATURE$ in Caucasian populations, mainly caused by connexin-26 defects that alter gap junction communication between nonsensory cochlear cells.	false
+bbff6c1b56d0d1ce27be78c8f45794f229cc3a4d	This is illustrated by three different examples: (1) the @DISEASE$ deafness form, a synaptopathy of the cochlear sensory cells where otoferlin is defective; (2) the Usher syndrome, in which deafness is related to abnormal development of the hair bundle, the mechanoreceptive structure of the sensory cells to sound; (3) the DFNB1 @PHENOTYPICFEATURE$ form, which is the most common form of inherited deafness in Caucasian populations, mainly caused by connexin-26 defects that alter gap junction communication between nonsensory cochlear cells.	false
+5518871f534dce0978066e44cce66f81f8e02ef5	Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in @DISEASE$ @PHENOTYPICFEATURE$.	false
+6a0daaedbca6c279229c9ee6b70ee9399146b0a0	Identities and frequencies of mutations of the otoferlin gene (OTOF) causing @DISEASE$ @PHENOTYPICFEATURE$ in Pakistan.	false
+c4939a6faa157a657e824647b210af163f383e33	Genetic testing revealed mutations in OTOF, confirming @DISEASE$ @PHENOTYPICFEATURE$.	false
+9e0a917de16e2edd4487f8591fb604dc74b21f0f	[Idiopathic @DISEASE$ and convulsive @PHENOTYPICFEATURE$].	false
+25e9f0cb1ad38c95692231449f0e1e477125039b	There have been various reports in the medical literature concerning children with syndromes of congenital @DISEASE$, @PHENOTYPICFEATURE$, dysmorphic features and mental retardation.	false
+02b31808c4a7f01f382f42c363a44675dac88a19	There have been various reports in the medical literature concerning children with syndromes of congenital @DISEASE$, seizures, dysmorphic features and @PHENOTYPICFEATURE$.	false
+89ac6cdd3912e12fd44933512cfabc97ab029733	[Epileptiform @PHENOTYPICFEATURE$ with idiopathic @DISEASE$].	false
+aa43f83f5a64892e6bead5cfd94f719f891bf649	Idiopathic @DISEASE$ with @PHENOTYPICFEATURE$; effect of treatment on intellectual function.	false
+186d4c3f3840854ac2cb8f74c5fe88ffd6090c10	A patient with @DISEASE$, dysmorphic features and @PHENOTYPICFEATURE$.	false
+713c545ae0405a0bcf0f6697c540103bc3863721	@PHENOTYPICFEATURE$ and idiopathic @DISEASE$.	false
+e4cd63fc301a48f070cf153d418c8bbdefe47bfa	None of the four affected adults has had major complications of @DISEASE$ (mental retardation, cataracts, or @PHENOTYPICFEATURE$).	false
+d0ad8dd5db41f563916353067352986961883595	None of the four affected adults has had major complications of @DISEASE$ (@PHENOTYPICFEATURE$, cataracts, or seizures).	false
+ed529f032162c1c32308d03919b12bf195772eea	Familial @DISEASE$ with candidiasis and @PHENOTYPICFEATURE$.	false
+aa5b0daf572e08fb7115a422d400c7aaf02d4396	In this case, we report a 17-year-old boy who developed recurrent seizures, @PHENOTYPICFEATURE$ and extensive brain calcinosis related to delayed diagnosis of @DISEASE$.	false
+ce398e22c3fe2ec562cc86d2a684cfa0579859bf	In this case, we report a 17-year-old boy who developed recurrent @PHENOTYPICFEATURE$, mental retardation and extensive brain calcinosis related to delayed diagnosis of @DISEASE$.	false
+382efab0017dd84927eaf735dcf8ef971c92624c	Recurrent seizures, @PHENOTYPICFEATURE$ and extensive brain calcinosis related to delayed diagnosis of @DISEASE$ in an adolescent boy.	false
+d4733c67378ba59d83641b1f1e36adc4cdd28a0d	Recurrent @PHENOTYPICFEATURE$, mental retardation and extensive brain calcinosis related to delayed diagnosis of @DISEASE$ in an adolescent boy.	false
+4effe3e3c7f2c636709cc411c4d11ae8901339e5	These three groups were compared preoperatively and postoperatively for lumbosacral cutaneous stigmata, @PHENOTYPICFEATURE$, concomitant congenital @DISEASE$, lower limb deformities, and sphincter dysfunction.	false
+b5fbce53b37cf28c0f832416d345e286278e6029	Meningeal @PHENOTYPICFEATURE$ associated with @DISEASE$ in an elderly patient is an extremely rare clinical presentation.	false
+db391e63231989781eb4c3dc1919ca0103da971e	Patients with @PHENOTYPICFEATURE$ had higher pretransplantation Child-Turcotte-Pugh scores (p = 0.01), cardiac output (p = 0.03), FMD (p < 0.01), NTD (p = 0.01), and FMD/@DISEASE$ ratio (p = 0.02).	false
+6fbdd89b20d0e73b9ded174ff047ca94ee977485	Spinal @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+4f9665f8dba7589378b5cc64ea4f95b9188918b2	Fumonisins causes leukoencephalomalacia in horses and @PHENOTYPICFEATURE$ in swine and have been suggested as a possible cause of an increased incidence of @DISEASE$ among people living along the Texas-Mexico border.	false
+f995408d6e8a76a66c26df8ca5edafac489b82c4	Retinoic acid-induced lumbosacral @DISEASE$: myeloschisis and @PHENOTYPICFEATURE$.	false
+f43bba116aa0b7011ce0c2700b2835c92427816e	The prevalence and incidence of renal failure and renal replacement therapy in the general population was ascertained, as was the prevalence of multiple sclerosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+42b2ee626b0360cd115541da2133f4ff904902f0	To evaluate the hypothesis that common genes are important for both @DISEASE$ and neural crest anomalies, we examined children with developmental @PHENOTYPICFEATURE$ for anomalies of neural crest-derived structures.	false
+f3c9773bbb7f767c6b5c81647da9c5584f412c33	Lumbar meningeal @PHENOTYPICFEATURE$ and epidermoid cyst associated with @DISEASE$ in an elderly patient.	false
+fb43b2be75d1378b71342c6434afb303aafce80a	However, there was no single instance of a @DISEASE$ (anencephaly, spina bifida with or without meningocele, other generalised @PHENOTYPICFEATURE$ or spinal dysraphism) amongst 826 first-, second- or third-degree relatives.	false
+e8b29e2a2487253fc90e3219b2e4737e8cc17078	Genetic screens demonstrate that mutations of KCNJ10, the gene encoding Kir4.1, causes SeSAME/@DISEASE$, which is characterized by early onset seizures, compromised verbal and motor skills, profound @PHENOTYPICFEATURE$, and salt-wasting.	false
+d9e6b5c3627755c620f587ddb5bf4332a41aebd1	For idiopathic @DISEASE$, vision improved by more than two lines in 43% of the eyes (33% after ERM surgery alone and 55% after ERM followed by @PHENOTYPICFEATURE$ surgery) with final visual acuity of 4/10 for 66% of the patients (58% and 82% respectively); there was visual degradation for the two ERM on highly myopic eyes.	false
+d1c4821e49fe28ec0a0f458dd3f1667c773ae50d	The authors report a new case of cystic partially differentiated nephroblastoma and @DISEASE$ associated with VMA, premature centromere division, microcephalus, Dandy-Walker malformation, and @PHENOTYPICFEATURE$.	false
+16e45874c2300e8d112dd632b7b2737c542d431c	To improve the accuracy of IOL power estimation in eyes with @PHENOTYPICFEATURE$ and ERM, sequential surgery for @DISEASE$ and cataract may need to be considered.	false
+b5cc8d398eaf9e2f6a848453d7903fbab4a85d5d	To improve the accuracy of IOL power estimation in eyes with cataract and ERM, sequential surgery for @DISEASE$ and @PHENOTYPICFEATURE$ may need to be considered.	false
+95da5186e85b6b64e2e4d7cae5ab339d4582d900	Anti-IIC antibodies were measured in the serum obtained from 17 patients with @DISEASE$, eight patients who underwent @PHENOTYPICFEATURE$ surgery, 12 patients with PDR, and nine patients with RRD.	false
+036bb02a50c941d1611fa62f44356de36d2856d2	Eyes with @DISEASE$ and VA of 20/40 or less showed more benefit after @PHENOTYPICFEATURE$ surgery than those with better preoperative vision.	false
+cfb84103fe079b03fde4514c968ca56b88c9f0f0	The SD-OCT staging system according to the presence of EIFL is effective for grading retinal damage and @PHENOTYPICFEATURE$ in eyes with @DISEASE$.	false
+e07d3dd6d305a67ccd64846e738cbd17d182c916	Patients with @DISEASE$ and @PHENOTYPICFEATURE$/pseudophakia were less likely to also have CME (OR 0.19, 95%?CI 0.09 to 0.40 and OR 0.37, 95%?CI 0.16 to 0.84, respectively).	false
+18b93466bdd512064f2ad3de14a580eddf8107e3	We present a case of uterine @DISEASE$ in a postmenopausal patient who presented with increasing abdominal girth, early satiety, @PHENOTYPICFEATURE$, and pelvic pain.	false
+966f7bae9fcd571b38f25b15229242bd87b705f4	In this prospective clinical trial, we allocated phakic eyes with @DISEASE$ to (1) cataract surgery and subsequent pars plana vitrectomy (PPV) (CAT group), (2) PPV and subsequent @PHENOTYPICFEATURE$ surgery (VIT group) or (3) phaco-vitrectomy (COMBI group).	false
+383840f449502ef96a1ab3f5eeb557e9dcc33cbe	In humans, mutations in PITX2 result in @DISEASE$, characterized by defects in the development of the eyes, umbilicus, and teeth and variable abnormalities in the brain, including hydrocephalus and @PHENOTYPICFEATURE$.	false
+84f06a87af3a1ef1407ce6bfc0e1aabb8a00733d	This is the first report indicating a role for BMP4 in @DISEASE$, Axenfeld-Rieger malformation, growth delay, @PHENOTYPICFEATURE$, and diaphragmatic hernia.	false
+362c1d67901bcb6cdfd2b911d0784d0bc3f42cfb	It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-@DISEASE$, autosomal dominant microspherophakia with hernia, and microspherophakia-@PHENOTYPICFEATURE$.	false
+34f585e4b38c933c53aa9b0e074fd6fde18e1b55	Here, we reviewed several channelopathies including @DISEASE$, familial hemiplegic migraine, episodic ataxia type 2, familial @PHENOTYPICFEATURE$ periodic paralysis, congenital myotonia, malignant hyperthermia, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+9b28d35ce82cf74fd24626cf21e150ae71fcb8b3	Subcutaneous @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d4bee716d8f3b40d140e1668579d0c40b9a9ee7e	Although localized @PHENOTYPICFEATURE$ is a common feature of @DISEASE$ generalized edema has been reported infrequently.	false
+d37c750a835a9badf6d214d05e7c652774b46a48	In @DISEASE$, STIR MRI skin and subcutaneous @PHENOTYPICFEATURE$ scores correlated (r(s) = 0.51, P = 0.008), as did fascial and muscle edema scores (r(s) = 0.58, P = 0.002).	false
+6da59c1937b93add0702e6908c085bfffb344e66	In @DISEASE$, STIR MRI skin and subcutaneous edema scores correlated (r(s) = 0.51, P = 0.008), as did fascial and muscle @PHENOTYPICFEATURE$ scores (r(s) = 0.58, P = 0.002).	false
+cbbd651df5fa7a5b4ec48239451737a82f590ae8	Our study showed that children with @DISEASE$ with disease onset at age <5 years are more likely to present with ulcerative skin disease and @PHENOTYPICFEATURE$.	false
+9774b25a362a9a36af0960674b2758e2a389038d	@PHENOTYPICFEATURE$ or inflammation in the skin, subcutaneous tissue, and fascia, found on STIR MRI, is common in @DISEASE$ patients and is often undetected by standard assessments.	false
+bf6755fb60cbe9f94445a89c523c226ae3479b46	@PHENOTYPICFEATURE$ is a well-known feature of @DISEASE$ (JDM).	false
+ca183d636c27ebcd47dc261758586ccdc99a84b0	@PHENOTYPICFEATURE$ with optic atrophy in case of malignant @DISEASE$.	false
+3b6dfed45dcfe11eae4401c2da0d397ccd1a6f61	Clinical trials and studies in animals are necessary to elucidate the pathogenesis of bisphosphonate-associated @PHENOTYPICFEATURE$ of the jaws, and to determine whether the bisphosphonates produce sclerotic changes in the skeleton similar to those found in @DISEASE$.	false
+5e0398c82a748e67e40b8ef8f2aaf47685936f66	Recessive mixed proximal-distal RTA accompanied by @DISEASE$ and @PHENOTYPICFEATURE$ is associated with mutations in cytoplasmic carbonic anhydrase II.	false
+e1746afffc548044c53aeff3a0a174fcfa1ab726	This family represents an example of an oligogenic pattern of inheritance of @PHENOTYPICFEATURE$, short stature, spastic paraparesis, and @DISEASE$.	false
+dedb8cb81ab199dc9ac80d6287227f69e3795a08	@DISEASE$ causes short stature, cerebral calcification and @PHENOTYPICFEATURE$.	false
+cb341ab93a1afc3dcba70c547e84190b0389a50f	Potential oligogenic disease of @PHENOTYPICFEATURE$, short stature, spastic paraparesis, and @DISEASE$.	false
+439641eace48622e823d04cd0a32c3237b6364b3	These pathologies include neurodegeneration, leukodystrophy, @PHENOTYPICFEATURE$, deafness, blindness, myotonia, hyperaldosteronism, renal salt loss, proteinuria, kidney stones, male infertility, and @DISEASE$.	false
+a773303c86c1d2cebf62a777c4d7d3b1654a7da7	All patients had visual impairment, @PHENOTYPICFEATURE$, @DISEASE$, hypolysinemia, ornithinuria and lysinuria.	false
+4417c4956eff7d90641051cd38d2ee59a2ec1e36	In addition to these urea cycle disorders, the several types of ornithinemia, which can result in @DISEASE$ or @PHENOTYPICFEATURE$, should be detectable with this assay.	false
+57ac09c1d6e5673a800fbca8c0a2f84e9b486fd2	@DISEASE$, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including @PHENOTYPICFEATURE$, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia.	false
+ef4eb273f1448555e7584745fe0fce4420940dd1	@DISEASE$, hyperammonemia and homocitrullinuria (HHH) syndrome presents with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma caused by hyperammonemia.	false
+8732b84f1ba92b2dbe41e8de7d5e48a014e93da6	If early diagnosis has not been made, patients with inborn metabolic disorders such as HHH syndrome, @DISEASE$ and dibasic aminoaciduria rapidly progress to sudden death, physical defect or @PHENOTYPICFEATURE$ resulting in storage of the toxic material into the brain.	false
+51a2322a5f8fa0e2122583430d4b2a3641369112	The syndrome of @DISEASE$, hyperammonemia, and homocitrullinuria (HHH) is a metabolic disorder resulting in protein intolerance and @PHENOTYPICFEATURE$.	false
+52849a485578ecb6099ad1233799432e63a68d8b	@DISEASE$, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the @PHENOTYPICFEATURE$, spastic paraparesis and hepatopathy remains undetermined.	false
+aa4eebb3aa661ab6153386f1324da22bd43527b1	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of muscular hypotonia, @PHENOTYPICFEATURE$, a slow progressive course and a characteristic fundus appearance similar to that of @DISEASE$ is described.	false
+56bfbf57400457fe5a70c8c837755a4c6f102a68	A three-year-ten-month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of @PHENOTYPICFEATURE$, severe mental retardation, a slow progressive course and a characteristic fundus appearance similar to that of @DISEASE$ is described.	false
+0e3fb4e3b30576bdbc4561a2b3822ec0ad66af23	@DISEASE$ is the biochemical hallmark of (hyperornithinemia-hyperammonemia-homocitrullinuria HHH) syndrome, an inherited metabolic disease clinically characterized by @PHENOTYPICFEATURE$ whose pathogenesis is still poorly known.	false
+d3307055b5e5cdffce372ffe0c100dd1c3cb943a	Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; @DISEASE$, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$ and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+ca57399da0c1e84e20dcb5a2d31cd5db8a84e4aa	Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; @DISEASE$, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; @PHENOTYPICFEATURE$, spastic paraparesis with pyramidal signs, cerebellar ataxia and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+7727a934d9caed5f5d5224ef688f58e909053442	The primary defect in patients presenting with a history of protein intolerance, @PHENOTYPICFEATURE$, and epilepsy of variable degree, with the unique triad of @DISEASE$, hyperammonemia, and homocitrullinuria (the HHH syndrome) has been postulated to be a defect in translocation of ornithine into the mitochondria.	false
+2b73125322bd42d26fa87ce8968e59148b679df8	Pulmonary pathologies including @DISEASE$ are characterized by disruption of pulmonary integrity and @PHENOTYPICFEATURE$ compromising respiratory function.	false
+9fa0084ac9b128bf0b2e2016ab0e2e717eb1a393	In another 27 patients, @PHENOTYPICFEATURE$ developed in association with other features that typify the @DISEASE$ (ARDS).	false
+65b54933a9480ae45e0a92ea53df9b99645f20a1	Metabolic malfunction of lung: noncardiogenic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f1702d6560b7dea2a6691679659112da08abec9a	Depending on the disease, water content correlates well with impaired oxygenation in cardiogenic @PHENOTYPICFEATURE$ and relatively poorly in increased permeability edema, especially established @DISEASE$.	false
+f2c983506a2f66ba891592be9a0423d0025f1ab0	Depending on the disease, water content correlates well with impaired oxygenation in cardiogenic edema and relatively poorly in increased permeability @PHENOTYPICFEATURE$, especially established @DISEASE$.	false
+b656aee1f94a85d44946e2e1e6c6778e1392df94	The lung disease caused by Hantavirus in these patients may explain the findings of interstitial @PHENOTYPICFEATURE$ and central alveolar filling atypical of @DISEASE$.	false
+15c786ecaa9a65691980bd9ac837810e658023fb	Toxic oxygen metabolites (TOM) have been suggested to be mediators of permeability @PHENOTYPICFEATURE$ associated with the @DISEASE$ (ARDS).	false
+7366ca947c3f3c0d991b20bca6c54a762ca7d435	Increased hyaluronic acid production in lung--a possible important factor in interstitial and alveolar @PHENOTYPICFEATURE$ during general anesthesia and in @DISEASE$.	false
+39598ab19e31897162bff72aa40d243c996d3961	Intravenous injection of oleic acid (OA) induces acute, @PHENOTYPICFEATURE$ lung injury resembling some of the features of @DISEASE$.	false
+f61b8a42ff3dd4c8a4545d3887d790855443cc4e	@DISEASE$ (ARDS) characterized by permeability @PHENOTYPICFEATURE$ is observed in severe insults such as bacteremia sepsis.	false
+12af53456a6cabe4155c32e1aad861d2db1ef098	@DISEASE$ (ARDS) after tricyclic antidepressant (TCA) overdose has been reported, but has not received as much attention in the literature as hemodynamic instability, @PHENOTYPICFEATURE$ or seizures.	false
+4c23fb957554ad6bb1c044cc58a10a3233ea8d46	[A case of Turner syndrome complicated with @DISEASE$, @PHENOTYPICFEATURE$ and Hashimoto disease].	false
+6d5e3afbca48472b7a05759dda4d8ba0fabb176e	Many children with @DISEASE$ experience linear @PHENOTYPICFEATURE$.	false
+78396725269860fd00d227b725d9837b560ebf74	@PHENOTYPICFEATURE$ in @DISEASE$: pathogenesis and interventions.	false
+eafb1549d72f3e42ca25aaf11a477474c9633612	The authors describe four children with @DISEASE$ with dermatologic manifestations: pyoderma gangrenosum, orofacial involvement, @PHENOTYPICFEATURE$, and idiopathic lymphedema.	false
+bba9df928601233e06779adce9b5edddba05d091	Intestinal fibrosis is a common feature of @DISEASE$ and may appear as a stricture, stenosis, or @PHENOTYPICFEATURE$.	false
+8471300c970e2e1a460365ab6f236e71bf47f2d2	She was given a diagnosis of @DISEASE$, @PHENOTYPICFEATURE$, and Hashimoto disease.	false
+cf3ce60c88628d83d01f46cf4129bbeb1c5a726f	Despite optimal therapy, many children with @DISEASE$ (CD) experience @PHENOTYPICFEATURE$.	false
+b6783ee435c19e6c799a5e49198b53fd7c2298eb	Saddle nose deformity, palatal perforation and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+2404d2227e78a5ad7d1fe221a12e105df6189acd	Celiac sprue and @DISEASE$: an association causing severe @PHENOTYPICFEATURE$.	false
+c7fc282c2c9bf949d31dd12dff3037fb846a389f	[A case of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+8d166bc878f1f267590c283d905ccdd343ee33bf	@DISEASE$ is an inflammatory disease characterized by @PHENOTYPICFEATURE$ and painful erythematous plaques with a dermal neutrophilic infiltrate.	false
+050df92c109d55aca03a99f62b17c70c82bd3b6f	@DISEASE$ (acute febrile neutrophilic dermatosis) is a rare clinical entity characterized by skin lesions, neutrophilia, @PHENOTYPICFEATURE$, and neutrophilic infiltration of the dermis.	false
+282624a212356a07cd2698adecf6261aa20e0edc	Neutrophilic dermatosis (@DISEASE$) is a rare condition characterized by painful indurated cutaneous plaques infiltrated with mature neutrophils and may be accompanied by @PHENOTYPICFEATURE$, granulocytosis, arthritis, and conjunctivitis.	false
+d751856bafa8045bd8c7c5dfb5837633bbfce9b3	@DISEASE$ (SS) is a rare inflammatory process presenting with painful erythematous skin eruptions, accompanied by @PHENOTYPICFEATURE$ and neutrophilia.	false
+8bf61532413e39e0cf4a2424611d679da80ee607	@DISEASE$ is a rare disorder characterized by @PHENOTYPICFEATURE$ and painful erythematous plaques containing dense dermal neutrophilic infiltrates.	false
+67b70c952b06caa4edd4a5553bfbeae216da530f	Sweet's syndrome or @DISEASE$ (SS) is characterized by the sudden onset of painful erythematous lesions (papules, nodules, and plaques) together with @PHENOTYPICFEATURE$ and neutrophilia.	false
+affa7888b7e32513162de5fce4c10cee09cdc16e	@DISEASE$ (ND) consists of the abrupt onset of red, tender, cutaneous plaques on the face, extremities, and upper trunk, accompanied by @PHENOTYPICFEATURE$, malaise, and neutrophilic leukocytosis.	false
+3ad304f7e4a654e5c44251d0407715f73f05b427	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, leukocytosis, and tender, erythematous, well-demarcated papules and plaques, which show dense neutrophilic infiltrates and papillary dermal edema.	false
+a22188808cbc130871be309d753b0b637a85e20f	Acute febrile neutrophilic dermatosis (@DISEASE$) is a systemic inflammatory condition usually associated with autoimmune or neoplastic processes and characterised by inflammatory dermatologic lesions such as erythematous plaques and papules associated with @PHENOTYPICFEATURE$ and leukocytosis.	false
+e67443e270006737031e3088284d1fb36962d91f	@DISEASE$ (Sweet syndrome) is a systemic inflammatory condition usually associated with autoimmune or neoplastic processes and characterised by inflammatory dermatologic lesions such as erythematous plaques and papules associated with @PHENOTYPICFEATURE$ and leukocytosis.	false
+5aa3bbc84467d87f8f0427b87cef1f09de3ba0c0	@DISEASE$ (Sweet's syndrome) is a rare inflammatory condition which presents as abrupt onset of painful erythematous plaques or nodules, often associated with @PHENOTYPICFEATURE$ and leucocytosis.	false
+45e01cbffb37a8eb8827a35576b210d0e3e0e70b	Death from sepsis, @PHENOTYPICFEATURE$, @DISEASE$, and capillary leak syndrome continue to be rarely reported.	false
+a6bcae8bd9261d099ea1fa96b42aaaf3e90bd7b5	Left @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+03d8a2d889b8372b219bd31e22449ead393a708c	Clinical benefit has been shown in coronary artery bypass grafting (CABG) surgery, congestive @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7d56fef25a75f495892f9918eaaf4e13647d35ba	Consensus can be reached as to the usefulness of PA catheterization in patients with severe shock syndromes, @DISEASE$ and refractory @PHENOTYPICFEATURE$.	false
+9ca27318663f162d343082bf89889d17f88dd7ba	A young trauma patient developed severe @DISEASE$ (ARDS), right @PHENOTYPICFEATURE$, hepatic congestion and an extreme hepatomegaly but no hepatic failure.	false
+312a3d826980b4e82c9d1b47b9562ae14ff62a79	They had various complications, including different kinds of infection or sepsis, AKI, hematological abnormality, @DISEASE$, @PHENOTYPICFEATURE$, multiple organs dysfunction syndrome, etc.	false
+3ebecad6c6cf240ce8c05641136a35ab8d6da74f	In 2004-2006, 64.5% of the cases of acute myocardial infarction, 57.5% of the instances of cardiac arrest/@PHENOTYPICFEATURE$, 27.8% of in-hospital mortality and 26.0% of the cases of @DISEASE$ were associated with hospitalisations with chronic heart disease.	false
+3550aca12e948603551b345dddaf3a4c82448998	Isolated @PHENOTYPICFEATURE$ following recovery from neurologic injury and @DISEASE$.	false
+4b0f047d509e45a71caacab0249faf8c1ca96b1e	Swan-Ganz catheter monitoring guided the management of this patient's shock, iron-induced @PHENOTYPICFEATURE$, and deferoxamine mesylate induced @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+f66d490b67665038a8c4431e05b47a7fa5c703e9	Although uncommon compared with simple syncopes, syncope triggered @PHENOTYPICFEATURE$ (@DISEASE$) are an important treatable basis of status epilepticus.	false
+dc0ea7ec9584ae633f456a6624a84f7ecdb6e18c	The results show that there are no significant differences in clinical effects between AES and placebo in pediatric epilepsies as a whole, but @DISEASE$ is effective in tonic-clonic seizures (P less than 0.05), the most common type of @PHENOTYPICFEATURE$ in the series.	false
+bab6cd1d1306f0f42b859300e0e17cd27a8afbde	To describe a large series of children with anoxic-@PHENOTYPICFEATURE$ (@DISEASE$)--that is, epileptic seizures induced by syncopes.	false
+ae823c7fa378f4527aa68a8bbeb5eca871fe7fc2	To describe a large series of children with anoxic-epileptic seizures (@DISEASE$)--that is, @PHENOTYPICFEATURE$ induced by syncopes.	false
+d40d81f68d58c6445da75441492d186a5ae1258c	Overall, anal @PHENOTYPICFEATURE$, faecal incontinence and anorectal tumours were the more common indications for @DISEASE$ while evacuation dysfunctions and anal pain were not always considered indications.	false
+7ea35f4f92c70912fb1c1a817cde2a705d40093a	The new antiepileptic drug levetiracetam (LVT) at doses of 40 and 80 mg/kg exhibits a pronounced anticonvulsant effect, influencing all the parameters of audiogenic epileptiform @PHENOTYPICFEATURE$ (@DISEASE$) in Krushinsky-Molodkina (KM) rats.	false
+3c35269d55d23db5f0bdfa5c2599857aa20d088a	The results of the present study indicate the efficacy of @DISEASE$ for epileptic children with refractory @PHENOTYPICFEATURE$.	false
+1d856f858bd6f4c7dc5dd29ee659b2367dda7bfc	Main outcome measures were: age of onset, frequency and type of syncopes; age of onset and frequency of @DISEASE$; type and duration of induced @PHENOTYPICFEATURE$; effect of treatment of syncopal and epileptic components.	false
+1572c0ff621623b83e8aeeb0fd1745094e40756b	Secondary measures were: Beck Depression Inventory, 2nd Edition (BDI-II), Beck Anxiety Inventory, Apathy Evaluation Scale (@DISEASE$), Stimulant Side-Effect Checklist, Adverse Events Profile, Quality of Life in Epilepsy-89 (QOLIE-89), and @PHENOTYPICFEATURE$ frequency.	false
+880f02080c7abf63628c7df0ffda0f4500ffe862	The @PHENOTYPICFEATURE$ frequency was recorded, and the blood levels of @DISEASE$ and other co-medicated AEDs (phenobarbital, phenytoin, carbamazepine and valproate) were determined.	false
+dc2fc88f12458dd0edf1aa685a176052c1b2a689	This work represents a collaboration on behalf of the American Epilepsy Society/International League Against Epilepsy (@DISEASE$/ILAE) Translational Task Force (TASK1-Workgroup 5), and is part of a larger effort to harmonize video-EEG interpretation and analysis methods across studies using in?vivo and in?vitro @PHENOTYPICFEATURE$ and epilepsy models.	false
+440466c6ea7ed0853f3255538ed10a014277b828	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called Loeys-Dietz syndrome, type 4. In this paper we describe an 18-year-old girl with borderline @PHENOTYPICFEATURE$, seizures, retinal degeneration, short stature, @DISEASE$, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+2b7918c6e92436e0d3b5710e7f40339e69c4f0e4	We identified 10 common diagnoses in pediatric orthopaedics: brachial plexus injury, cerebral palsy, clubfoot, @DISEASE$, leg length discrepancy, osteochondroma, @PHENOTYPICFEATURE$, scoliosis, spina bifida, and syndactyly.	false
+6ed6ad0ba180fce7be552cf2cf34ff01cadf3ec2	Exclusion criteria were previous hip or knee prosthesis, @DISEASE$, elective THA secondary to trauma, real leg-length discrepancy (?1.5 cm), @PHENOTYPICFEATURE$, concomitant rheumatic pathology in acute phase, and serious comorbidities such as cardiac, respiratory, and/or neuromuscular pathologies.	false
+11697e5e40952dba07fd1f4404f7334d5ea170cc	@DISEASE$ (MDK) (MIM *156232) is a new autosomal dominant @PHENOTYPICFEATURE$ characterized by dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation.	false
+2b349d7f61166c6a83bcfc9bce29b4240a427d30	This is only the second reported family affected with @DISEASE$ (MIM 156232), a distinct mesomelic @PHENOTYPICFEATURE$.	false
+9ba54619a7e3d080b75bad62c4575da3fea5e158	@DISEASE$ is a rare hereditary disorder whose main features are intra-uterine and post-natal @PHENOTYPICFEATURE$, characteristic facies, microcephaly, mental retardation and poor feeding.	false
+915e3c5fa8ab5b2bb496e3d4bb5304ee95ef98d2	@DISEASE$ is a rare condition in which the affected individual presents with dysmorphic facial features and manifests @PHENOTYPICFEATURE$.	false
+f90e61c19567c0166cdf10b2d0d318b115534c98	@DISEASE$ is a very rare, autosomal recessive disease characterized by microcephaly, @PHENOTYPICFEATURE$, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation.	false
+65188dadd60e7262c84f1a1e340c7be5655da6cf	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, cognitive @PHENOTYPICFEATURE$ failure, an immune defect, and an increased risk of blood dyscrasia and malignancy.	false
+cd96313bea6e1a942180a19034109babf3a88ed0	@DISEASE$ is a rare autosomal recessive disorder that leads to @PHENOTYPICFEATURE$ (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema.	false
+007513542784ced7e5250c9f13918ba09fc1d3d9	@DISEASE$ is a rare condition characterized by a constellation of features including @PHENOTYPICFEATURE$, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice.	false
+f5ee4176517c5ebbd62f6f341ed753fee69f5c31	@DISEASE$ is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental @PHENOTYPICFEATURE$ failure, and a predisposition to allergies and eczema.	false
+fd1f5ed13f073dfa566960a9b2075aed80a4aafd	Severe short stature as a result of intra-uterine @PHENOTYPICFEATURE$ is one of the characteristics of @DISEASE$.	false
+6c39539a0ffd8f713b0d099ef46cd0b8794cfd35	@DISEASE$ is an autosomal recessive disorder of @PHENOTYPICFEATURE$, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965].	false
+3b130c505abf13f9794b181bc839dbe590765ce0	The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and microphthalmia, or in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bc7d788e95f81669e75ad63601b9912d9a24d1bd	The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and @DISEASE$, or in microphthalmia and @PHENOTYPICFEATURE$.	false
+b163d3074adec2059ab8a744cbf39ddaf1fdb5d6	Three related patients with the severe autosomal recessive form of oculodento-osseous dysplasia had visual impairment with @DISEASE$, microcornea and @PHENOTYPICFEATURE$, which had been present since birth.	false
+0f8b376cc5eec9c55281bf3c25438368eff9995a	Three related patients with the severe autosomal recessive form of oculodento-osseous dysplasia had @PHENOTYPICFEATURE$ with @DISEASE$, microcornea and cataracts, which had been present since birth.	false
+50579e521c41066254d9ef02de930a3c42fa2ece	Ocular abnormalities included @DISEASE$, @PHENOTYPICFEATURE$, and retinal dysplasia.	false
+ca98f1c796fc461ba5e86c0856221072dbdd4d5f	The ocular abnormalities include @PHENOTYPICFEATURE$, @DISEASE$ and hypertelorism.	false
+07616e5ac7a968ca68a1a06471fc8637675bd48d	This region harbors a locus associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1d564e08722667b0e8040ca3c53a941603da4fc2	Debilitating visual impairment caused by @PHENOTYPICFEATURE$ or @DISEASE$ is estimated to affect roughly 20 million people in the United States alone.	false
+6316fd3e2b812a6db5e01598b5da15c28a767985	Debilitating @PHENOTYPICFEATURE$ caused by cataracts or @DISEASE$ is estimated to affect roughly 20 million people in the United States alone.	false
+a35db61d725c34334418e7d6d9ec54658bb802fd	near CATM (@PHENOTYPICFEATURE$ with @DISEASE$).	false
+b52aa4f97a96131b92922eb78efd505770621f26	We have adapted the OptoMotor Response to assay visual impairment in zebrafish models of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+da7368b80bf571c95b72a22d87eb621f5acca512	We have adapted the OptoMotor Response to assay @PHENOTYPICFEATURE$ in zebrafish models of cataracts and @DISEASE$.	false
+6bff66d943b28ad1698d963075e149d933da3f90	Mouse models for @DISEASE$, anophthalmia and @PHENOTYPICFEATURE$.	false
+543cd744380363013b3811235f0dd819461918cb	@DISEASE$ @PHENOTYPICFEATURE$ extraction.	false
+94ae4e149676a5c26e5cd9a9d5c525e7975dc530	, with @DISEASE$ preventing @PHENOTYPICFEATURE$ growth in TKI-resistant xenografts.	false
+0cd887b46eceb2f1dada9543c1056e99d51884f0	Infantile Alexander disease (AD) is a @DISEASE$ characterized by its early onset within 2 years of life and clinically presents with macrocephaly, @PHENOTYPICFEATURE$, and retarded psychomotor development.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+99e7d1b89f677cfc354e431dae34bac6b6101cc3	@PHENOTYPICFEATURE$ and galactose @DISEASE$.	false
+31f92fa088612b907c9e12e04bc06e0ff4794e8d	acute renal failure, @PHENOTYPICFEATURE$, autonomic dysfunction and @DISEASE$.	false
+fd9f6d339d87d351053afd2addbd8f5433e1901d	Pseudophakic @PHENOTYPICFEATURE$ (PCME) is the most common complication of @DISEASE$ surgery, leading in some cases to a decrease in vision.	false
+6bf4c570c8a5f9d9f01fbf5caf4f8e3cb0947e9a	@PHENOTYPICFEATURE$ and @DISEASE$ in the tuco-tuco.	false
+fa4e04c7c0457ec24044302f7c6aec383133842f	Postoperative complications included @DISEASE$ in the phakic group (100%), transient elevation of intraocular pressure (IOP) (29%), epiretinal membrane (8%), proliferative vitreoretinopathy (7%), @PHENOTYPICFEATURE$ (3%), secondary macular hole (2%), persistent elevation of IOP (1.5%), and persistent hypotony (1%).	false
+de950346ce26a05bd5dc14811ac0a28421672493	Postoperative complications included @DISEASE$ in the phakic group (100%), transient elevation of intraocular pressure (IOP) (29%), @PHENOTYPICFEATURE$ (8%), proliferative vitreoretinopathy (7%), cystoid macular edema (3%), secondary macular hole (2%), persistent elevation of IOP (1.5%), and persistent hypotony (1%).	false
+12eab3b2ed6d3588d30e47b3728c7749d8bb3b21	Early steroid withdrawal has a positive influence on the emergence of de novo @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8cb36619c7ff8bdb4f672d7cbce47424c2127d41	[Unilateral mixed crystalline @DISEASE$ and associated @PHENOTYPICFEATURE$].	false
+7d2e69b98efb6c0c3c094b80dd3c704e9dbc92cc	Congenital @DISEASE$, microphthalmia, hypoplasia of corpus callosum and @PHENOTYPICFEATURE$: report and review of Micro syndrome.	false
+a50a286eb8cd9c53fd90c300e5d90525c5a3a86f	Iatrogenic @PHENOTYPICFEATURE$ and preventable @DISEASE$.	false
+4921e8f41fd299091a345d3ebf301ee69894b289	The initiation of @DISEASE$ allowed symptoms to be controlled in the three patients with @PHENOTYPICFEATURE$ but without seizures.	false
+8ff752da802efed93beff6d61529fe8bacd18e82	@DISEASE$ type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, @PHENOTYPICFEATURE$ with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation.	false
+1aa2e3f7cb5f269b3467be0e2d7a07bd5d660fc2	@DISEASE$ type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and @PHENOTYPICFEATURE$ (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy.	false
+18b086dada29c937dc56f731294e37d92822c24a	@DISEASE$ (MAD) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ such as hypoplasia of the mandible and clavicles and acro-osteolysis.	false
+97048e4178cdad137b583f25faae927474916bb8	Mandibuloacral dysplasia (@DISEASE$) is a rare autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ such as hypoplasia of the mandible and clavicles and acro-osteolysis.	false
+324214f47feee5b7878069d5440b2cfcea8f8ded	Mandibuloacral dysplasia (@DISEASE$; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.	false
+7bbb31192bd07cc9274004d5bf672fe16b17d570	@DISEASE$ (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by @PHENOTYPICFEATURE$ including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy.	false
+46dedb90a199e252cc81072ab92f0195a1d4ef4e	Two patients with mild variants of the same disorder (@DISEASE$:M) presented with @PHENOTYPICFEATURE$, acidotic coma, and/or poor growth; they primarily excreted ethylmalonate and variable amounts of adipate.	false
+866dd83f68d0b48275635e17b1117edeec8932dc	Mandibuloacral dysplasia (@DISEASE$) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and @PHENOTYPICFEATURE$.	false
+8a62b241d40e268d5cf14b811ebd9dc2da5a1ca3	@DISEASE$ (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and @PHENOTYPICFEATURE$.	false
+9d742488d6a7ac408e8d4453ce2abd02e05f4f08	The authors found that WPS was associated with greater inflammation, Candida, periodontitis, dry socket, blood chromium and nickel levels, premalignant lesions, oral cancer, @DISEASE$, attic retraction, @PHENOTYPICFEATURE$ in the vocal cords, and lower habitual vocal pitch and voice turbulence index.	false
+b373b9eafec43af615156b2c401405830b56594a	Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause @DISEASE$ (CS), a disease characterized by multiple @PHENOTYPICFEATURE$.	false
+4563f1339dacfa18559367d20f38941e666946ae	@DISEASE$ (CS) is characterized by multiple vascular and @PHENOTYPICFEATURE$ including vascular dilation and tortuosity, systemic hypotension, and cardiomegaly.	false
+e59abdca2eb94573bdbf7bcc7116814e3be85fe0	@DISEASE$ is a rare condition whose main features are hypertrichosis, @PHENOTYPICFEATURE$ and wide ribs.	false
+19d346e0e6478d7e4b80eb0af70f4dd3f427063d	Joubert syndrome (JS) is an autosomal recessive @DISEASE$ characterized by hypotonia, @PHENOTYPICFEATURE$, abnormal eye movements, and intellectual disability.	false
+393f46bfd00744341597743d96467b8a23d62891	Joubert syndrome (JS) is an autosomal recessive @DISEASE$ characterized by hypotonia, ataxia, abnormal eye movements, and @PHENOTYPICFEATURE$.	false
+ee37ef11b735b22f5055a2b6e6a8419617848ddf	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive @DISEASE$ characterized by obesity, postaxial polydactyly, retinitis pigmentosa, @PHENOTYPICFEATURE$, and kidney abnormalities.	false
+81716819f47d6dba621d7bfd3a743695b84757a3	Bardet-Biedl syndrome is a rare @DISEASE$ characterized by retinal dystrophy, obesity, @PHENOTYPICFEATURE$, polydactyly, hypogonadism and renal impairment.	false
+4a498fa6cf1976dd256e1c0d3623449b3cee90fc	In the present study, two Pakistani families comprising individuals with overlapping clinical features suggestive of a @DISEASE$ syndrome, including @PHENOTYPICFEATURE$, obesity, congenital retinal dystrophy, and hypogonadism (in males), were investigated clinically and genetically.	false
+a23604161e24458cccd30f3be67d2cc1b50787d5	Bardet-Biedl syndrome (BBS) is a rare congenital @DISEASE$ characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, @PHENOTYPICFEATURE$, hypogonadism and renal dysfunction.	false
+72c029e851a15a3d1e262362b6f6ee20560bd1c3	Surprisingly, we also identified a novel truncating KIF7 mutation in a third consanguineous family, in which the index presented with @PHENOTYPICFEATURE$ but no overt signs of @DISEASE$, and his brain magnetic resonance imaging revealed an isolated dysgenesis of corpus callosum.	false
+b79acb6a06223cfb0643255586254fcbb2cb6926	Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive @DISEASE$ with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, hypogonadism, and renal abnormalities.	false
+5f0f99b79b9f56d24feef166b5f4ba9d514d0c30	The girl showed developmental delay, @DISEASE$, @PHENOTYPICFEATURE$ and mild dysmorphic features.	false
+e698f277689d60c673739f60d50c3c9187081c11	A case of @PHENOTYPICFEATURE$, microglossia and partial @DISEASE$.	false
+0ad6e54e5bc05f40e0a86a72d6421c6191ea84ec	The results of this study indicate that GDC-0449 can be used to induce @PHENOTYPICFEATURE$, microglossia, ectrodactylia, partial @DISEASE$ and cleft palate.	false
+db933437f9ca03d6320ee612facdf32818e76629	We report a case of otopalatodigital syndrome type II with @PHENOTYPICFEATURE$, cleft of the soft palate, and partial @DISEASE$, and discuss the combined orthodontic and surgical management.	false
+486e58de3f847406303271c6d6a1615811575230	The proband was a 44-year-old man who showed characteristics of @DISEASE$, including craniofacial dysostosis, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, @PHENOTYPICFEATURE$, and neck injection.	false
+dba63c191df72d7884b42b7d72fec169792549ba	The proband was a 44-year-old man who showed characteristics of Crouzon syndrome, including @DISEASE$, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, @PHENOTYPICFEATURE$, and neck injection.	false
+99f062994a979e3a0772063f31b9e4732bb1821f	Case report: @DISEASE$ with @PHENOTYPICFEATURE$.	false
+65c9c403ea8b20fde2bcd22fb43620041f249e42	[A case report of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+759711018c69d5c3745895c2d6618d1980a86872	This article provides a brief discussion of the major 2016 updates to the WHO CNS classification scheme and reviews typical MR imaging findings of adult primary CNS neoplasms, including diffuse infiltrating gliomas, @DISEASE$, neuronal/@PHENOTYPICFEATURE$, pineal gland tumors, meningiomas, nerve sheath tumors, solitary fibrous tumors, and lymphoma.	false
+18a7a190535e81626fc1c626bff120cf1b40b3a0	It was speculated that such an aerodynamic property of the ET observed in the group with @DISEASE$ and cleft palate and in the group with OME but without @PHENOTYPICFEATURE$ may be due mainly to possible inflammatory condition of the tubal mucosa rather than to abnormal anatomy or to an abnormal physical property of the framework (such as cartilage) of the ET.	false
+f884e53e3576fced643e54897928691506330c5d	It was speculated that such an aerodynamic property of the ET observed in the group with @DISEASE$ and @PHENOTYPICFEATURE$ and in the group with OME but without cleft palate may be due mainly to possible inflammatory condition of the tubal mucosa rather than to abnormal anatomy or to an abnormal physical property of the framework (such as cartilage) of the ET.	false
+6a0165a6f6f3b7ab85dab39731d880720eafed15	Eustachian tube function in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+1e68c4f5d63dfbc0935fdc37e57b8b1caf176a43	The tubal compliance results in the group with both cleft palate and OME were significantly higher than the results obtained with the controls, but did not differ significantly from the results obtained with the patients with OME but without cleft palate; this indicated that the ETs of those patients with @DISEASE$ and @PHENOTYPICFEATURE$, and the ETs of those patients with OME but without cleft palate, appeared to be more collapsible than the ETs of normal subjects.	false
+06500c60a18e5adb327ce5880b67c1bd5dcd01ac	The tubal compliance results in the group with both cleft palate and OME were significantly higher than the results obtained with the controls, but did not differ significantly from the results obtained with the patients with OME but without cleft palate; this indicated that the ETs of those patients with @DISEASE$ and cleft palate, and the ETs of those patients with OME but without @PHENOTYPICFEATURE$, appeared to be more collapsible than the ETs of normal subjects.	false
+1e89866a256d95c2c653ebfcf9d2e12d43ade8af	The tubal compliance results in the group with both cleft palate and OME were significantly higher than the results obtained with the controls, but did not differ significantly from the results obtained with the patients with OME but without @PHENOTYPICFEATURE$; this indicated that the ETs of those patients with @DISEASE$ and cleft palate, and the ETs of those patients with OME but without cleft palate, appeared to be more collapsible than the ETs of normal subjects.	false
+775873b2ec59f310a7303daaa5384b8efb9ccf64	The tubal compliance results in the group with both @PHENOTYPICFEATURE$ and OME were significantly higher than the results obtained with the controls, but did not differ significantly from the results obtained with the patients with OME but without cleft palate; this indicated that the ETs of those patients with @DISEASE$ and cleft palate, and the ETs of those patients with OME but without cleft palate, appeared to be more collapsible than the ETs of normal subjects.	false
+4cf12a9b242a30934f4bc6e60b581658c5deb1ab	@PHENOTYPICFEATURE$ and @DISEASE$ are also observed.	false
+76b03778a18c3a1daa53ed66062c8c434e1277f0	[Bilateral congenital triangular alopecia associated with @DISEASE$ and renal and @PHENOTYPICFEATURE$].	false
+b994b6bab2357158994079011474c5bb812d6cfb	A patient with psychomotor developmental delay, multiple minor anomalies, @DISEASE$ and left @PHENOTYPICFEATURE$ is reported.	false
+e8de72f2f6003f3822231d1d0f1b459c8aef3883	The most common clinical features include specific types of @DISEASE$, hypocalcemia, immunodeficiency, facial dysmorphia, @PHENOTYPICFEATURE$, velopharyngeal dysfunction, renal anomalies, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders.	false
+1378eeeff8d8cffdf26724de04e63c196ebf4753	The most common clinical features include specific types of @DISEASE$, hypocalcemia, immunodeficiency, facial dysmorphia, palate anomalies, velopharyngeal dysfunction, @PHENOTYPICFEATURE$, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders.	false
+7df9963e839befab27b7e9c57d1cf08c4518123e	An infant with ectrodactyly, glaucoma, cleft palate, @DISEASE$ and @PHENOTYPICFEATURE$ associated with a 7(q21.2q31.2) deletion is presented.	false
+10bbc32cf117ce629b308b1f0f641a4d152d3aa4	An infant with ectrodactyly, glaucoma, @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies associated with a 7(q21.2q31.2) deletion is presented.	false
+ef8caf55ef9cf0f32040e12714defe52833171da	Emanuel syndrome results from +der(22)t(11q23;22q11). @PHENOTYPICFEATURE$, ear anomalies, @DISEASE$, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome.	false
+cfaacbb923fa67eb786504f4f464082116bcdc92	Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, @DISEASE$, @PHENOTYPICFEATURE$, hypotonia, and mental retardation are the main features of the syndrome.	false
+036352428b04e02e966e0e1937be960a6c2fd9dc	Systemic @PHENOTYPICFEATURE$ are common and in some cases may be associated with @DISEASE$.	false
+0b5e3dc522bf37795fc44491b99c344014911188	Thomas syndrome is a rare syndrome including Potter sequence, @PHENOTYPICFEATURE$, @DISEASE$, cleft palate with other oropharyngeal anomalies.	false
+0052ae6f59a4a641e847b0508310dc37e85f6db6	Thomas syndrome is a rare syndrome including Potter sequence, renal anomalies, @DISEASE$, @PHENOTYPICFEATURE$ with other oropharyngeal anomalies.	false
+b118c0dda4fd77ec7aeb4c04cb306587f3f9e1ff	Phenotypic findings consistent with 47,XX (or XY), +der(22), t(11;22) include mental retardation, preauricular skin tag and/or sinus, ear anomaly, @PHENOTYPICFEATURE$, micrognathia, @DISEASE$, and genital anomalies in males.	false
+91436d1f6d63762f7aeeb32c8edeaebe944ab008	Phenotypic findings consistent with 47,XX (or XY), +der(22), t(11;22) include mental retardation, preauricular skin tag and/or sinus, ear anomaly, palate anomaly, micrognathia, @DISEASE$, and @PHENOTYPICFEATURE$ in males.	false
+751493226466fdb225d339f663a4d600606b945a	Fetuses with @DISEASE$ have @PHENOTYPICFEATURE$ volumes than healthy fetuses.	false
+9a07e2a582b40eefe9e8e287650039edc7416789	The occurrence of the same mutation in both the @DISEASE$ and areas of desmoplastic fibroma suggests that the @PHENOTYPICFEATURE$-like tissue reflects an unusual secondary tissue change within an otherwise typical fibrous dysplasia.	false
+010ce70cdec8edca3ea3df8f47adcec71aaeda38	The occurrence of the same mutation in both the fibrous dysplasia and areas of desmoplastic fibroma suggests that the @PHENOTYPICFEATURE$-like tissue reflects an unusual secondary tissue change within an otherwise typical @DISEASE$.	false
+6d22c16f5b49e6fe915c10d2adf2f56c4c1c2ae4	We report the case of a patient with polyostotic fibrous dysplasia who had a giant mandibular lesion consisting of histologically typical, genotypically-confirmed, @DISEASE$ merged with a fibrotic and hypocellular desmoplastic @PHENOTYPICFEATURE$-like tissue in which the same Gs?-R201H mutation was detected.	false
+52ec216c3f1024fea8360207527d97efda68d4aa	Orbital @DISEASE$ with soft tissue @PHENOTYPICFEATURE$--a variant of Mazabraud's syndrome.	false
+fba26b54b9e2bc53e516339ff9d6668fa6d2c4da	Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (@DISEASE$), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/@PHENOTYPICFEATURE$ hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease).	false
+21661ef90656da53d5096c83860bad07c0629c13	Problems in the differential diagnosis are discussed among entities which present sphenoid @PHENOTYPICFEATURE$: osteoma, Paget's disease, sphenoid meningioma and @DISEASE$.	false
+f1b3ab950ecd9a016d00cff1b6da5f2eca294aa7	The differential diagnoses were @DISEASE$, syphilis, pustulosis palmoplantaris, rectocolitis, Crohn's disease, SAPHO (synovitis, acne, pustulosis, @PHENOTYPICFEATURE$ and osteitis) and Paget's disease.	false
+31de1478463d7561902cbeb7a97a92b27593ae3f	ANKRD11 thus serves as a candidate @PHENOTYPICFEATURE$ suppressor gene and it has been speculated that its haploinsufficiency may lead to an increased cancer risk in @DISEASE$ patients.	false
+f3b919533ed3d034b3edf2dcd520c2029ba44339	@PHENOTYPICFEATURE$ of the hypotympanum in a patient with @DISEASE$.	false
+fbf9c09199dd5100ae00532eec4eb5c3eb8db06d	In the present article we report a @PHENOTYPICFEATURE$ of the hypotympanum extending to the jugular foramen in a 16-year-old male with @DISEASE$.	false
+a4fa9bd9876a23782095fcc6b460f2043fa8c490	However, cases of its safe and efficacious use to reverse severe @PHENOTYPICFEATURE$ in @DISEASE$ are limited.	false
+6eec3695420c211aa3fa79ffb3e5632fc0a8e2e8	Screening for red blood cell @DISEASE$ in patients with diabetes or @PHENOTYPICFEATURE$.	false
+ac58d1c3c08dfeafcb7b1e130e8cea37825f4f4c	Sorbitol dehydrogenase activity was not detectable in lenses, among other tissues, making the pig a potential model for studies in experimental diabetes, particularly for the investigation of @DISEASE$ as a risk factor in the development of @PHENOTYPICFEATURE$.	false
+6e0c8f3c7e882e9467117d61998665d543042e81	It should be useful to screen for @DISEASE$ in large numbers of individuals, particularly patients with diabetes or @PHENOTYPICFEATURE$.	false
+fbb7077db57cab24439bb7c1b7afc864a8fb660d	Red blood cell @DISEASE$ in a family with @PHENOTYPICFEATURE$.	false
+62e3e3041821a7939ddaf6ac7b589fe9477e3e70	These results do not define a clear cataract-@DISEASE$ deficiency etiopathogenic relationship, nevertheless, they strongly suggest activity polymorphism in human red cell SORD, which would be highly relevant not only to the study of @PHENOTYPICFEATURE$ but of other major complications in diabetes.	false
+f2027d559410db0e1a9f3ac5cd5a790758918c5e	These results do not define a clear @PHENOTYPICFEATURE$-@DISEASE$ deficiency etiopathogenic relationship, nevertheless, they strongly suggest activity polymorphism in human red cell SORD, which would be highly relevant not only to the study of cataracts but of other major complications in diabetes.	false
+d35bcdcf9cd7004a2d1c98e8e8868c976696f0d8	Galactitol and sorbitol concentrations in plasma were determined in patients (with or without @PHENOTYPICFEATURE$) in whom homo- or heterozygosity for galactokinase, galactose-1-phosphate uridyltransferase, systemic or peripheral UDP-galactose epimerase and @DISEASE$ was confirmed.	false
+2d450bb7fb7cdb8bda5d671809b74755ccb94294	The missense mutation L238Q, when paired with a nonsense mutation, is associated with significant, late-onset brain disease: psychiatric disorder, @PHENOTYPICFEATURE$, and general decline starting at a later age than in @DISEASE$ with a mutation-related rate of GAG accumulation and its pathologic sequelae.	false
+890cc86a911cbe20c2f113125320420550071e67	Thirty-seven children (59 eyes) underwent surgery (27 eyes had Marfan syndrome; 23 eyes had essential dislocation; and 9 eyes had a diagnosis of homocystinuria, aniridia, @PHENOTYPICFEATURE$, or @DISEASE$).	false
+c96ff4928ed984648c8779f4a4d4f55919b44602	[Ectopic renin-secreting orbital @DISEASE$ associated with juvenile hypertension and @PHENOTYPICFEATURE$; a case report (author's transl)].	false
+87f90524aad304a78df080518351ad21ea000ef0	A case of ectopic renin-secreting orbital @DISEASE$ associated with juvenile hypertension and @PHENOTYPICFEATURE$.	false
+16118ca02272aebdaeca2193a5d2321e41ecd6a3	Metastatic craniocervical @DISEASE$ presenting with @PHENOTYPICFEATURE$ and papilledema - Case review.	false
+71ef35887f277ca57c54d5186a205f1194262dff	The shared mutation was originally reported by our team in two adult siblings with renal Fanconi syndrome, @DISEASE$, and progressive @PHENOTYPICFEATURE$ who are family members of one of the infants reported herein.	false
+c942d5f451d3f0b181ada601159509a9463edbb3	During the corticosteroid administration for @DISEASE$, @PHENOTYPICFEATURE$ with profound muscle weakness had developed.	false
+19b8841bdf1bca9be5b2f05775f061befe909476	@DISEASE$ parasites during human @PHENOTYPICFEATURE$.	false
+121278d166faf1c0ec57a62019d852933cc8fe36	@DISEASE$ is a common cause of @PHENOTYPICFEATURE$ in the tropics, and it also contributes to the development of epilepsy in later life.	false
+121278d166faf1c0ec57a62019d852933cc8fe36	@DISEASE$ is a common cause of @PHENOTYPICFEATURE$ in the tropics, and it also contributes to the development of epilepsy in later life.	false
+c346a8945daebf54285d3af46687d23ac18ecd51	History of @DISEASE$, fever, lymphadenopathy, persistent diarrhea, persistent cough, and @PHENOTYPICFEATURE$ robustly predicted low CD4+ count.	false
+a6bea31c77a5ea82874c84c80245f1f7a6ba2dbc	Lumbar puncture in children from an area of @DISEASE$ endemicity who present with a @PHENOTYPICFEATURE$.	false
+e881644210f280d08d0ebd66d3849c9f74eccfe1	The @PHENOTYPICFEATURE$ in child younger 5 years is an indicator of severe @DISEASE$ in tropical nations.	false
+28167f6f2cbb116368d58fb7e71d84507e323b5b	Screening for RD should be performed on admitted children, particularly those with history of herbal medication use, sore throat/@PHENOTYPICFEATURE$, SCD, dehydration and @DISEASE$.	false
+3f2e6837f43b3a3418ea5f34ec3a8d9e228906c7	We report the case of a patient with @DISEASE$ who also had mild @PHENOTYPICFEATURE$/encephalopathy with a reversible splenial lesion (MERS) causing transient neurological symptoms.	false
+cc720f579c5da9afca3ca9dcda2c9321298beb3a	In humans, it is used to treat respiratory infections, tooth aches, @DISEASE$, @PHENOTYPICFEATURE$, venereal diseases, diarrhea, fevers and aches.	false
+1aeebdcff2a0cde83f4a9c9001b705a5d31b04b5	Similar results were obtained when children with @DISEASE$, known to cause acute symptomatic seizures in addition to @PHENOTYPICFEATURE$ were excluded.	false
+88b7ea27ba337df8773ea69e9a952c065141a221	The identified cis-regulatory SNPs are associated with diseases of the immune system, like @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f2be6a5c5ef41713bcf80243d3ddbc8f6f2dc7d2	@DISEASE$ appears to be associated with cerebral @PHENOTYPICFEATURE$.	false
+78f4fb8448df3357da1a8830e1812b2337dc4fec	This is the first report of @PHENOTYPICFEATURE$ and GH deficiency occurring in conjunction with @DISEASE$.	false
+92c0153e36e948e2f0585a7249547ddbb4152e55	Clinical associations between gout and @DISEASE$, @PHENOTYPICFEATURE$'s disease and motor neuron disease: record-linkage studies.	false
+3416c50321153847740b33ed7277a2c5a65fd036	Sixty-four patients with @DISEASE$ and associated symptoms of @PHENOTYPICFEATURE$ dysfunction underwent urodynamic evaluation.	false
+a741b64d57e6ef6ed8bbba21e49e19881de48490	Corpus callosum partial agenesis, @DISEASE$-like @PHENOTYPICFEATURE$, and acoustic schwannoma were found in 1 patient each.	false
+23cc717a9afe449fe68f20fdbdd658a939d9e602	Cerebellar-parietal dysfunctions in @DISEASE$ patients with @PHENOTYPICFEATURE$.	false
+3ee7be9b8577f3953fe03596cff463b326eb9f30	The interplay between red hair color variant genotype, red hair/@PHENOTYPICFEATURE$ phenotype, and @DISEASE$ (MS) is complex.	false
+6d7ce2659eee280d299bc49dc815cdc08cef1575	@PHENOTYPICFEATURE$ and @DISEASE$: another breakthrough claim?	false
+6d964c7d192d4f15d38ce9660438944a7784f019	[Clinical findings of neurogenic bladder in patients with Parkinson's disease, @DISEASE$ and @PHENOTYPICFEATURE$].	false
+9108564e679331d87b5bbc45acd7fb5569144fd3	Paraneoplastic encephalitis comprises several diseases such as paraneoplastic cerebellar degeneration (@DISEASE$), limbic encephalitis (LE), paraneoplastic encephalomyelitis (PEM), brainstem @PHENOTYPICFEATURE$, opsomyoclonus syndrome, in addition to other even less frequently occurring entities.	false
+7f1afe41f96d2230b068b9c1d081709d6d036655	@PHENOTYPICFEATURE$ should be considered as a potential cause of otorrhea in @DISEASE$.	false
+0836cacd660e5e64f56b23b9e311799c565ade21	To evaluate whether impairment of middle ear mucociliary migration would influence @PHENOTYPICFEATURE$ formation, a retrospective chart review evaluating cholesteatoma occurrence in a sizable population of patients with either @DISEASE$ (PCD) or cystic fibrosis (CF) was performed.	false
+c96a5ebe3574aca9c95ae21a830bea81efb4a45d	To evaluate whether impairment of middle ear mucociliary migration would influence cholesteatoma formation, a retrospective chart review evaluating @PHENOTYPICFEATURE$ occurrence in a sizable population of patients with either @DISEASE$ (PCD) or cystic fibrosis (CF) was performed.	false
+bd533e81b227b5ba8bcee530c95035cf685b37b1	To evaluate whether impairment of middle ear mucociliary migration would influence @PHENOTYPICFEATURE$ formation, a retrospective chart review evaluating cholesteatoma occurrence in a sizable population of patients with either primary ciliary dyskinesia (@DISEASE$) or cystic fibrosis (CF) was performed.	false
+e542254e805b003e4da72b95adb2cb5c18fd2383	To evaluate whether impairment of middle ear mucociliary migration would influence cholesteatoma formation, a retrospective chart review evaluating @PHENOTYPICFEATURE$ occurrence in a sizable population of patients with either primary ciliary dyskinesia (@DISEASE$) or cystic fibrosis (CF) was performed.	false
+0a0e904f91a62e529e467b24b99c1a62a776199c	This cohort was used to investigate whether children with @DISEASE$ and OME not treated with VT were predisposed to @PHENOTYPICFEATURE$ formation in the setting of a paediatric quaternary referral centre.	false
+963136fd9378d5435e7d051ccf43cd10e190b479	By examining the fate of nuclei in various anther cell layers, we demonstrated that the kinetics of @DISEASE$ in anthers differed between the barley cultivars Igri and Cork that show a low and a high rate of @PHENOTYPICFEATURE$, respectively.	false
+bdb21a386711905233577f7e6b7d8b4f0cfddc2f	However, no direct correlation between @DISEASE$ in the anther cell layers and the rate of @PHENOTYPICFEATURE$ was observed and copper had no influence on the PCD kinetic in these cultivars.	false
+0ca0d998ab3e4c2481598101609736820b2e5a4b	However, no direct correlation between PCD in the anther cell layers and the rate of @PHENOTYPICFEATURE$ was observed and copper had no influence on the @DISEASE$ kinetic in these cultivars.	false
+0da4f3af9ca864260e7966bf2965057d1fb01a84	We examined programmed cell death (@DISEASE$) during microspore development to determine whether PCD may interfere with the induction of ME and/or the occurrence of @PHENOTYPICFEATURE$.	false
+4b05ae9e60264cf7e0aeed57d08c3855f8eed9b9	We examined programmed cell death (PCD) during microspore development to determine whether @DISEASE$ may interfere with the induction of ME and/or the occurrence of @PHENOTYPICFEATURE$.	false
+cdc464e087a9c3c0b83c5806118ac5b425204aa7	No cases of @PHENOTYPICFEATURE$ were found in this cohort of @DISEASE$ children with OME managed without VTs.	false
+1e422f9b7f44824db2a6e9187ff59f6d5697a3cb	Recently, it has been suggested that misprojections of the temporal retina to the contralateral hemisphere might not be specific for patients with @PHENOTYPICFEATURE$ and might also be associated with the Kartagener syndrome (i.e., with situs inversus totalis in the presence of primary ciliary dyskinesia [@DISEASE$]).	false
+36e5660ba957b350de28f4dc82e3323816012553	Recently, it has been suggested that misprojections of the temporal retina to the contralateral hemisphere might not be specific for patients with @PHENOTYPICFEATURE$ and might also be associated with the @DISEASE$ (i.e., with situs inversus totalis in the presence of primary ciliary dyskinesia [PCD]).	false
+abd0577f6d38678bbac2e9ca858a204e782a5284	No child with OME and @DISEASE$ was diagnosed with a @PHENOTYPICFEATURE$ during the follow up period.	false
+e6bcc35afc2127a5b3e00cdd951b21025d1724b4	The @PHENOTYPICFEATURE$ was located in the head or uncinate process of the pancreas in 38% of those with @DISEASE$% of those with MCA, and 49% of those with MCAC.	false
+cb13682f239d6a1de3ebb9ca67c16f0a1de4ab5b	'@DISEASE$' (Ballantyne's syndrome) refers to the association of fetal hydrops with placentomegaly and severe maternal @PHENOTYPICFEATURE$.	false
+e6eac4bf11ef5e2b3048d2d5921e79288792ea16	@DISEASE$ was defined as fetal hydrops and severe maternal @PHENOTYPICFEATURE$.	false
+5e5b9e1afeec8a924ccaf6ef4481c08d679ad6c9	@DISEASE$ is the association of triple @PHENOTYPICFEATURE$, i.e. fetal, placental and maternal edema, with maternal preeclampsia.	false
+5134b3d965914b301c9990b8a4c4b67e68055279	@DISEASE$ is the association of triple edema, i.e. fetal, placental and maternal @PHENOTYPICFEATURE$, with maternal preeclampsia.	false
+2062bef8f81e7fc241d908039e104bdda1b77bb3	In the @DISEASE$, maternal edema mirrors fetal @PHENOTYPICFEATURE$.	false
+a8b4ab1b6e771e3bee08a699f208b6ccaf6f321f	In the mirror syndrome, maternal edema @DISEASE$ fetal @PHENOTYPICFEATURE$.	false
+391177eb35e6da71a606064381969f8b2db753dd	In the mirror syndrome, maternal @PHENOTYPICFEATURE$ @DISEASE$ fetal edema.	false
+2e2b0a2ff553eb11e191cbea3d9612923eed2c2a	In the @DISEASE$, maternal @PHENOTYPICFEATURE$ mirrors fetal edema.	false
+27b1397a4d8d74c37f9cc5ed6c38db031a7371b0	The mother developed @DISEASE$ as manifested by hypertension, oliguria, and @PHENOTYPICFEATURE$.	false
+9e3858751b63a07a7528549a0cf50787ee8e2ffe	@DISEASE$ is a triad consisting of fetal hydrops, maternal @PHENOTYPICFEATURE$ and placentomegaly.	false
+8f5d399b91cb3d2c0c6a08512c9eac52ecd9b0bf	@DISEASE$ is a rare condition that involves fetal hydrops, placentomegaly and severe maternal @PHENOTYPICFEATURE$.	false
+356b127502b1d76ea13661868dfd5f3586ac9978	@DISEASE$ is also known as Ballantyne syndrome, maternal hydrops, triple @PHENOTYPICFEATURE$ and pseudotoxemia.	false
+58b52c09569193c137939e55597b8a9d05d79bfd	@DISEASE$ (that is fetal hydrops with subsequent @PHENOTYPICFEATURE$ in the pregnant woman) is a rare condition.	false
+924bbb64856e870577100611a7e6d4defc5c6575	@DISEASE$ is a characteristic of maternal edema subsequent to fetal and/or placental @PHENOTYPICFEATURE$.	false
+c5f78d4828c4f5001e0cd679eeabb460a0ce7672	@DISEASE$ (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature and @PHENOTYPICFEATURE$.	false
+4d1642adf78cd54fd6545725625d3ea0260216cd	@DISEASE$. Association with marfanoid habitus, @PHENOTYPICFEATURE$, and other abnormalities.	false
+26a9f0084195e8fdefd4427860e6b7c8b1ec8331	[Spinocerebellar degeneration associated with bilateral @DISEASE$, macular degeneration and @PHENOTYPICFEATURE$--case report of two siblings].	false
+1caf437093593f53fe419399771236a9dfdf2fef	[A case with variable symptoms and signs, such as bilateral @DISEASE$, retardation of growth, @PHENOTYPICFEATURE$, hypofunction of gonadal organs, chronic renal failure, and orthostatic hypotension].	false
+b0453c60786304f05a1836d9c1c4fcab00aa4fca	Of these, failure to thrive, photosensitivity, and @PHENOTYPICFEATURE$ (language delays) developed before 2 or 3 years of age, whereas deafness, sunken eyes, and @DISEASE$ on CT occurred later.	false
+dea57ab427de739bff505abf181a9310f0f11b56	This syndrome, therefore, should be considered along with Cockayne's, Kearns-Sayre and Down's syndromes, tuberous sclerosis, carbonic anhydrase II deficiency, congenital @PHENOTYPICFEATURE$ and idiopathic familial @DISEASE$ as another developmental cause of brain calcification, which usually show no disturbance in serum calcium level.	false
+03d744122fc64e91514026f807bd37d7d5638fb2	Chromosome 10p deletion in a patient with hypoparathyroidism, @PHENOTYPICFEATURE$, autism and @DISEASE$.	false
+357d7815707496058bf651985fbfb0f943e810d0	Similar diffuse intracranial calcification can be seen in a variety of disorders including @DISEASE$ and spinocerebellar @PHENOTYPICFEATURE$ 20.(1) Mitochondrial disorders(2) are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation.	false
+1702205a4b2c992e4a232d85b82071b0eec3f664	We describe a new male patient, 33-year-old, with 10p partial deletion affected by hypocalcemia, @DISEASE$ and a severe autistic syndrome associated with @PHENOTYPICFEATURE$.	false
+b49b235091739a30fe8940a44be38cc9e9ff4c6d	Increased mortality with left ventricular systolic dysfunction and @PHENOTYPICFEATURE$ in adults with @DISEASE$.	false
+f6a810a3a06b8e095c149b086ed2275a3699f9c6	[Inner ear @PHENOTYPICFEATURE$ in @DISEASE$ and progressive muscular dystrophy].	false
+5f042826643afdf94409aedc6e2cdc949ed8dee2	In patients with @DISEASE$ overweight and @PHENOTYPICFEATURE$ are frequent.	false
+bb6fc2a279114171a3366696670175503b34f96a	Overweight and @PHENOTYPICFEATURE$ are common in patients with facioscapulohumeral dystrophy (FSHD) and @DISEASE$ (DM1).	false
+a05de8393b20214959f347c0d59a2afbf1121c28	Cardiac resynchronization improves @PHENOTYPICFEATURE$ in one patient with @DISEASE$.	false
+b8617d3a4aa3ea3be1c921e14e85f9be116062d7	Patients with @DISEASE$ have several @PHENOTYPICFEATURE$, especially myocardial conduction disorders.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+f54084fe22a8e6746b07e08234c8d62587aad56c	Up to 80% of individuals with @DISEASE$ (DM1) will develop @PHENOTYPICFEATURE$ at some point during the progression of their disease, the most common of which is heart blockage of varying degrees.	false
+59c860fbab4c7630434d04ee02ed9e60482d45e1	Non-invasive evaluation of the relationship between electrical and structural @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+d1a0c5e37cf983a23a8390831f8b6901215463d3	@DISEASE$ (DM1) is the most common form of muscular dystrophy in adults, characterized by a variety of multisystemic features and associated with @PHENOTYPICFEATURE$.	false
+b913705eb89f91ede17a951546b23792500ba4ce	@DISEASE$ (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and @PHENOTYPICFEATURE$.	false
+ebbc8e438ba07d93152e9d21eb96bdd22639c8f7	Rates of @PHENOTYPICFEATURE$, @DISEASE$, and fractures were not significantly different between treatment groups.	false
+00631a98a09a1c0104771540e9f4c699f0cdbf03	However, it is known to be associated with complications such as stone formation, mucus production, metabolic acidosis, urinary tract infections, @PHENOTYPICFEATURE$, and a long-term risk of @DISEASE$.	false
+21d13c22711872b8685e792c87ce4e95ede7f9be	The association between @PHENOTYPICFEATURE$ and @DISEASE$ prognosis is not well-defined.	false
+98b81c3fcb661dd0ee937314c8e64d54521de20d	The performed analysis has shown that in 1979-1990 discharge rates had significant growing trends in the both urban and rural population in the case of @DISEASE$, leukaemia, @PHENOTYPICFEATURE$ and congenital anomalies in infants.	false
+dece379e038f237dd3d4ce6475db3138e5f9b1da	We evaluated associations of obesity and physical activity with @DISEASE$ risk by performing a system-wide search of PubMed for cohort and case-control studies focused on @PHENOTYPICFEATURE$, exercise, and bladder cancer.	false
+2e3649a3568bb2080bf120fae0c1191cc2e39574	We evaluated associations of @PHENOTYPICFEATURE$ and physical activity with @DISEASE$ risk by performing a system-wide search of PubMed for cohort and case-control studies focused on obesity, exercise, and bladder cancer.	false
+79faf46c9e642ad40e57617897aabda5246dfdc6	We evaluated associations of obesity and physical activity with bladder cancer risk by performing a system-wide search of PubMed for cohort and case-control studies focused on @PHENOTYPICFEATURE$, exercise, and @DISEASE$.	false
+25733240a804834983a4fd53128abff220740658	We evaluated associations of @PHENOTYPICFEATURE$ and physical activity with bladder cancer risk by performing a system-wide search of PubMed for cohort and case-control studies focused on obesity, exercise, and @DISEASE$.	false
+61a8fb0ed24d50fda572a3f534c4e79fab2835b1	Second, an analysis of HR for bladder cancer stratified by @PHENOTYPICFEATURE$ across smoking status strata showed a significant trend of increasing HR for @DISEASE$ across obesity and smoking status in multivariate-adjusted models.	false
+757f3834754257ef0dc4df0b01b7e88172725f76	Second, an analysis of HR for @DISEASE$ stratified by @PHENOTYPICFEATURE$ across smoking status strata showed a significant trend of increasing HR for bladder cancer across obesity and smoking status in multivariate-adjusted models.	false
+9ccb009a4516e9d285816b053244f0f0008baf7d	Second, an analysis of HR for @DISEASE$ stratified by obesity across smoking status strata showed a significant trend of increasing HR for bladder cancer across @PHENOTYPICFEATURE$ and smoking status in multivariate-adjusted models.	false
+9622ce8a3e047ac0f839b953858bbaaaabf8b8c8	Second, an analysis of HR for bladder cancer stratified by obesity across smoking status strata showed a significant trend of increasing HR for @DISEASE$ across @PHENOTYPICFEATURE$ and smoking status in multivariate-adjusted models.	false
+7b77c519cf14dc080284f364c3a20772d0e525a1	This meta-analysis revealed that @PHENOTYPICFEATURE$ may be a risk factor for @DISEASE$ recurrence.	false
+709aa7c6930f1182802b8cb721c9a5cd739b6e11	Epidemiologic study of insecticide exposures, @PHENOTYPICFEATURE$, and risk of @DISEASE$ in household dogs.	false
+485ef53a4f7480378a88db687fb7941dafa649e8	Otherwise, there was a reduction in risk of bladder cancer with @PHENOTYPICFEATURE$ in men and the HR for @DISEASE$ was not affected by BMI increase in women.	false
+3b72a7d82c1699d5449ceba635ea0173d6652023	Otherwise, there was a reduction in risk of @DISEASE$ with @PHENOTYPICFEATURE$ in men and the HR for bladder cancer was not affected by BMI increase in women.	false
+0ce356b6e8d18e9260bf40b4df0ae1f53a5ceb14	Association between @PHENOTYPICFEATURE$ and @DISEASE$ recurrence: A meta-analysis.	false
+5481e0cbe1faccc41f5a451716010115f0080d29	The latter data have delineated at least 3 cases of presumptive @DISEASE$ @PHENOTYPICFEATURE$.	false
+754651a72d46604c0b542ef4cbdda4733c670cc7	Comparative physico-chemical and spectroscopic analyses were carried out in human lens proteins obtained from extracts of normal, senile and @DISEASE$ @PHENOTYPICFEATURE$.	false
+9ed053ad94d1c10c1c6af02edfd9338ae84080bc	Phosphorescence assays on lens matter derived from individuals with a clinical diagnosis of @DISEASE$ @PHENOTYPICFEATURE$ demonstrated a photoproduct identical with the previously reported triplet noted in the lenses from experimental PUVA-treated animals.	false
+e7b74d5305b78c7c31ddb76846c941d30b373527	Univariate analysis showed an association of renal involvement, @PHENOTYPICFEATURE$, azathioprine or cyclophosphamide prescription during pregnancy, previous fetal losses and @DISEASE$ with fetal wastage.	false
+6f1b6e31af84b9aa336a53c7f38188741754358b	Our results imply that the @DISEASE$ may have contributed to more precise spectral-domain optical coherence measurements, minimizing the influence of @PHENOTYPICFEATURE$ on RNFLT and BMO assessments in our cohort.	false
+66054fecba9445fe0cce24fbcc10d05687a75f88	Although our @DISEASE$/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal features of WS, including short stature, premature graying/alopecia, @PHENOTYPICFEATURE$, bird-like face, flat feet, hyperkeratosis on the soles and diabetes mellitus, were absent.	false
+1b9b2e6bd48b5f5c0e98f7100d3afc8b4a6151b1	The ACTTION-@DISEASE$ chronic cancer pain taxonomy provides an evidence-based classification for 3 prevalent syndromes, namely malignant bone pain, pancreatic cancer @PHENOTYPICFEATURE$, and chemotherapy-induced peripheral neuropathy.	false
+87f29dcd5f8d592b9267a7f0ba3cfb485ec9d601	Significantly, @DISEASE$ (antiphospholipid syndrome), disease activity, hypertension, hypocomplementemia, thrombocytopenia, and @PHENOTYPICFEATURE$ during pregnancy were more commonly observed in fetal loss pregnancies than in live birth pregnancies.	false
+119cbcc7d6f16b7e3260f45441b44b20f0d4f4be	Here we present two different cases of @DISEASE$ with anopthalmia/@PHENOTYPICFEATURE$, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.	false
+12d91eca935dff295b8c0b345581c092699ebf6a	Using the @DISEASE$, RNFLT remained unchanged following @PHENOTYPICFEATURE$ surgery, contrary to results reported by previous studies.	false
+5b6b503171b2cd8e422c5288201b9e470f423a9f	RNFLT, BMO area, and BMO minimum rim width (BMO-MRW) were assessed with the Heidelberg Engineering Spectralis OCT using the anatomical positioning system (@DISEASE$) prior to and 1 day after @PHENOTYPICFEATURE$ surgery using a ring scan at different eccentricities of the disc (3.5, 4.1 and 4.7 mm).	false
+86a095b09ddf3cb4c12cba0aed3d40305d4640bf	A 32-year-old female with primary infertility since marriage (7 years) and sequential appearance, for the past 6 months, of various lupus-specific cutaneous lesions, "targetoid" lesions on palms, musculoskeletal, ocular and auditory (@PHENOTYPICFEATURE$ [SNHL]) complaints with positive serological profile for SMD-1, SS-A/Ro, SS-B/La, U1-snRNP, Ku, antiphospholipid and anticardiolipin antibodies, and histopathologically confirmed LE is presented as a case of concurrent overlap syndrome, RS and @DISEASE$, primary infertility, and SNHL.	false
+90f851f4d5ecca738a3b097591abcd78b95f5db1	Frequent comments by physicians that pain ratings, sometimes called @PHENOTYPICFEATURE$ scores, are not useful in clinical practice and comments by basic scientists that pain ratings may measure the wrong thing, have been in significant part supported by a short survey conducted among members of American Pain Society (@DISEASE$).	false
+cb561bdc4d2cc483c213818fb1d9f9924ce94ca4	Two transcriptionally active regions were identified in the center of Xq27 and include candidate regions for X-linked @PHENOTYPICFEATURE$ syndrome 6, X-linked progressive cone dystrophy, X-linked @DISEASE$, and a prostate cancer susceptibility locus.	false
+2c4ea62d2fa167a065432857bf38e2fb702c93b5	Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, @PHENOTYPICFEATURE$, @DISEASE$ and eye defects.	false
+7ef8c40b6716a522b9e257c3beea5f192afe4f96	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus @PHENOTYPICFEATURE$ type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	false
+746a2374f5b8bc8784fcb71de1975403cc8c0b1b	A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus @PHENOTYPICFEATURE$ type 1 (AOA1), three with Marinesco-Sj?gren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with @DISEASE$ (ARCA2).	false
+b8d26d5188611b6425c0f7f45e185c6d158b7173	We report here a 50-year male presenting with rapid onset of @DISEASE$ with an unusual finding of bilateral oculomotor palsy mistakenly treated as ocular @PHENOTYPICFEATURE$.	false
+623257fabede500ed6ff09ba8f76831dea01033d	Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes @PHENOTYPICFEATURE$-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for @DISEASE$.	false
+a08fa128c1ec77d4c3eb8af406845d451bd16ab9	Dermatologic symptoms can be associated with posttraumatic stress disorder (PTSD) in several situations: (1) as features of some core PTSD symptoms, such as intrusion symptoms manifesting as cutaneous sensory flashbacks, as autonomic arousal manifesting as night sweats and idiopathic urticaria, and as dissociation manifesting as numbness and dermatitis artefacta; (2) the cutaneous psychosomatic effects of emotional and physical neglect and sexual abuse (eg, infantile @PHENOTYPICFEATURE$, cutaneous self-injury, and body-focused repetitive behaviors such as @DISEASE$ and skin picking disorder) and eating disorders, which can have dermatologic effects; (3) the direct effect of physical or sexual abuse or catastrophic life events (eg, earthquakes) on the skin; and (4) as a result of significant alterations in hypothalamic-pituitary-adrenal and sympatho-adrenal medullary axes, which can affect neuroendocrine and immune functions, and can lead to exacerbations of stress-reactive inflammatory dermatoses such as psoriasis, chronic urticaria, and atopic dermatitis.	false
+d5f7f56d28be5294081bd0095a6334e7a808db1e	Updated classifications have recognized specific clinical and pathologic T-cell entities, such as peripheral T-cell lymphoma, not otherwise characterized, angioimmunoblastic lymphoma, systemic anaplastic T-cell lymphoma, adult T-cell leukemia/lymphoma, @DISEASE$, hepatosplenic T-cell lymphoma, extranodal natural killer (NK)/T-cell lymphoma nasal type, and @PHENOTYPICFEATURE$-type intestinal T-cell lymphoma.	false
+69b49aed1c0d884ce77ebaf6189604d8d0b7308c	Extremely variable penetrance has been reported to be associated with @DISEASE$, the most common features of which are @PHENOTYPICFEATURE$, waddling gait and muscle weakness.	false
+8394babaca492f674233c9c4ee39fd26b0d7db8a	Microvascular decompression (@DISEASE$) surgery for trigeminal neuralgia and hemifacial spasm offers a relatively low-risk opportunity to treat cranial nerve hyperactivity-compression syndromes, which are associated with severe, @PHENOTYPICFEATURE$ facial pain and spasm.	false
+6da8b89277167db037dbccc32f08346ab2f23652	X-linked @DISEASE$ (ATR-X) is characterized by @PHENOTYPICFEATURE$, wide range of minor abnormalities, and association with an unusual form of alpha-thalassemia.	false
+f75e64541aec0761283706f588cff47548757bb8	X-linked @DISEASE$ (ATR-X), which was first reported by Wilkie, et al. in 1991, is a disorder with @PHENOTYPICFEATURE$, characteristic facial appearance, genital abnormalities, and mild form of alpha-thalassemia.	false
+aaf8debfd4aa9baf886eeee6c8245df0ce1ac820	Efforts to understand the pathobiology of pheochromocytomas and extra-adrenal paragangliomas have been spurred by genetic and gene expression profiling studies showing genotype-phenotype correlations in @DISEASE$ syndromes and in some sporadic @PHENOTYPICFEATURE$.	false
+0ac4198eb1c6e5b7e97bf56e6d7fbf63f0c6c68f	@DISEASE$ (PC/PGL) accounts for up to 60% of previously considered sporadic @PHENOTYPICFEATURE$.	false
+d75c60d2e40b728c81dd9fddf2c87dd1715de6ad	These @PHENOTYPICFEATURE$ may be sporadic or part of any of several genetic diseases: @DISEASE$ syndromes, multiple endocrine neoplasia type 2, neurofibromatosis 1 and von Hippel-Lindau disease.	false
+17ce7a726cfb210076bd883302f967c2efa7c5df	Fifty patients with dementia of the Alzheimer's type (DAT), multi-infarct dementia (@DISEASE$), and @PHENOTYPICFEATURE$ of mixed type (MIX) were studied.	false
+6808902de98f568c0dfce66d41ddb83bbef3d54f	Clinical features favoring amyloidosis over @DISEASE$ include older age, absence of kidney failure, presence of nephrotic syndrome, absence of @PHENOTYPICFEATURE$, and >50% albuminuria.	false
+a41ab38b10d4037791412bfbfb591722e2a5c8ce	Achondroplasia can result in respiratory difficulty in early infancy, from anatomical abnormalities such as @DISEASE$-facial hypoplasia and/or adenotonsillar hypertrophy, leading to obstructive apnea, or to pathophysiological changes occurring in nasopharyngeal or glossal muscle tone, related to @PHENOTYPICFEATURE$ (foramen magnum and/or hypoglossal canal problems, hydrocephalus), leading to central apnea.	false
+fc507d1437a4a4a278d83ddbda37f1a3babff00f	Positron emission tomographic (PET) scans using [18F]-fluorodeoxyglucose and magnetic resonance imaging (MRI) scans were quantitatively analyzed for metabolic and structural abnormalities in normal subjects and patients classified as having Alzheimer's disease (AD), mixed @PHENOTYPICFEATURE$ and multi-infarct dementia (@DISEASE$) according to Hachinski ischemic scores.	false
+97a0a06ab2b66eb1f93f0795be4bf2deff16b830	The clinical signs and comorbidities associated with @DISEASE$ were very frequent, with 54% spoken language disorders and 10% @PHENOTYPICFEATURE$.	false
+7f66675d433b00dbd06cd0c0007b8fe4ae044716	In order to provide research groups with post-mortem brain tissue from patients who show clinical signs of dementia such as Alzheimer's disease (AD), senile dementia of Alzheimer type (SDAT), vascular dementia including multi-infarct dementia (@DISEASE$) and mixed @PHENOTYPICFEATURE$, a brain bank was established at Huddinge University Hospital at the end of 1988.	false
+f208256512496344f8d8ef5101c94875c243e32e	The clinical manisfestations included growth retardation, persistent open anterior fontanelle, prominent forehead, @DISEASE$-facial dysplasia, hypocalcemic tetany and characteristic radiologic @PHENOTYPICFEATURE$.	false
+1e9ee3a79872c5af49deff0a3dcd49857f2c9fdc	The assessment of @PHENOTYPICFEATURE$ in individuals with mild intellectual disabilities (@DISEASE$) is complicated because of the overlap between autistic traits and intellectual limitations.	false
+a48e881e858b38ca8e2ff4c2e02c434dc091d3d0	Basilar invagination and @DISEASE$-line @PHENOTYPICFEATURE$ due to in utero exposure to phenytoin.	false
+78df9e0c9b9b4e85baed98ee1be22b4d617cf691	@DISEASE$ is usually a self-limiting disease characterized by @PHENOTYPICFEATURE$ and cervical lymphadenopathy.	false
+1f1ee78e28c1f5bd166f30c7d2e2f3c159aa92af	@DISEASE$ must be considered in every young patient with @PHENOTYPICFEATURE$ and lymphadenopathy.	false
+4dac268894b69686df74ab3c8720793ea7d14ed4	@DISEASE$ presenting with @PHENOTYPICFEATURE$, lymphadenopathy and dysphagia.	false
+6583181c68fb30889a3a30fb720ecf08ca237430	@DISEASE$: an esoteric cause of @PHENOTYPICFEATURE$ and lymphadenopathy in the young patient.	false
+430c6e271ab2b8a2de9be12eb01ba5e124a4d2d2	Histiocytic necrotizing lymphadenitis, @DISEASE$ is characterized by chronic cervical lymphadenopathy associated with @PHENOTYPICFEATURE$.	false
+2a663e26a2f47995f3fc970b1fdc71094ff174ae	@DISEASE$: a rare but important cause of @PHENOTYPICFEATURE$ and lymphadenopathy in pregnant women.	false
+801144eb09545038967c2feb9476f87c696d2f07	@DISEASE$: benign cause of @PHENOTYPICFEATURE$ and lymphadenopathy.	false
+4c52a122e37d33df3d683731c1c8f6e850a48f51	@DISEASE$: a benign cause of @PHENOTYPICFEATURE$ and lymphadenopathy.	false
+720b1fe290e18b742a80480510e605b20f4b53bf	Paediatric @DISEASE$: a benign cause of @PHENOTYPICFEATURE$ and lymphadenopathy.	false
+bed1f63981575c8650e65f9b73dc61cf8bda092f	@DISEASE$ is a rare condition characterized by @PHENOTYPICFEATURE$ and persistent lymphadenopathy.	false
+45312c5b1ba13ab2d89593faebd310c64a863e22	The presence of such a high concordance between the clinical and morphological data, together with the occurrence of epilepsy and @PHENOTYPICFEATURE$ in three generations of the family pedigree points towards a possible genetic nature of the observed @DISEASE$.	false
+f6b03a68714086174a655834a8bceda9bdc4af5a	Clinical characteristics associated with this highly selective subset of patients with @DISEASE$ were: the presence of @PHENOTYPICFEATURE$ during infancy, a shorter duration of active epilepsy and a lower age at epilepsy surgery.	false
+7e1110d5911dbd6f55bf5c0461396f195b2332b5	The associated FCD subtypes have unique clinical characteristics, including a later age of epilepsy onset and a shorter duration of epilepsy, especially in @DISEASE$; and a high susceptibility to @PHENOTYPICFEATURE$ was observed in FCD Type IIIa.	false
+a5add7fade47c05d8d9cbafeabae97a0e06c387b	@DISEASE$ patients, especially a drug-na?ve subgroup, showed @PHENOTYPICFEATURE$ in reasoning, visual attention, and executive function, which are typical cognitive functions of the frontal lobe.	false
+cfec9545584dbc06eeba550420bb961d41c3c19a	Increasing the dose and frequency of dialysis by @DISEASE$ has been demonstrated, in both short- and long-term studies, to reverse several important risk factors for adverse cardiovascular events in patients with end-stage renal disease such as hypertension, left ventricular hypertrophy, systolic dysfunction, conduit artery stiffness, attenuated baroreflex regulation of heart rate, disturbed heart rate variability, @PHENOTYPICFEATURE$, and endothelium-dependent vasodilation.	false
+efa11f7ffca9f6fdd512145c2aa0d46ce59af091	1. Maple syrup urine disease (@DISEASE$) is an inherited metabolic disorder predominantly characterized by neurological dysfunction and @PHENOTYPICFEATURE$ whose patophysiology is poorly known.	false
+11497bb53442aa9be0ce0f86f53ec69e5f957aa5	@DISEASE$ is characterized by optic atrophy beginning in early childhood associated with ataxia, @PHENOTYPICFEATURE$, mental retardation, and posterior column sensory loss.	false
+c8af787c3410a62434e8789fb0590556bf856213	@DISEASE$, though rare, are seen with increasing frequency and are characterized by @PHENOTYPICFEATURE$ during the neonatal period with favorable prognosis.	false
+cd65b86081ebed00898f4ffcff5b1129a5d7269f	@DISEASE$ should be considered in a baby with a unique @PHENOTYPICFEATURE$ pattern and positive family history.	false
+2eca96f5ea73ca998ec02713a2256de1968c6dbf	An infant with @DISEASE$ fortuitously had a clinical @PHENOTYPICFEATURE$ during a routine EEG.	false
+825020c1462be3c4cec0f954a446b1bd2df7d845	@DISEASE$ (BFNC) are characterized by unprovoked @PHENOTYPICFEATURE$ during the first weeks of life with spontaneous remission after a few months.	false
+df1c2922d58be2e234fef1d8716476752f55158d	The age at onset, the semeiology of the @PHENOTYPICFEATURE$ and the genetic data distinguish the benign familial infantile seizures from the @DISEASE$.	false
+67c53ab8156d9dcf754ca74d01ea15494e56c00f	The age at onset, the semeiology of the seizures and the genetic data distinguish the benign familial infantile @PHENOTYPICFEATURE$ from the @DISEASE$.	false
+ac6621630dfc0271e2ec1c0991ba80ef4a2dcce9	@DISEASE$ (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief @PHENOTYPICFEATURE$ within the first days of life.	false
+cdc42b1f09901b0b682dbe93094b56345ee254de	@DISEASE$; psychosocial adjustment to the threat of recurrent @PHENOTYPICFEATURE$.	false
+68c9160191d6eeaafb4a3b7c611b189c0db949cb	@DISEASE$ is associated with normal exam and work-up, and @PHENOTYPICFEATURE$ remission is seen in the first month of life.	false
+acb02edeff62490e9a65b525fe78a374475c98f4	Bilateral tonic-clonic @PHENOTYPICFEATURE$ in non-@DISEASE$.	false
+ccdc23891198a567376ccb48149f364bd016c31a	@DISEASE$ is a rare but increasingly recognized syndrome characterized by @PHENOTYPICFEATURE$ in the neonatal or infantile period.	false
+ca296b527f11b19f29b15da1008b6c768fc53442	This spectrum encompasses moderately severe hereditary spastic paraparesis (@DISEASE$) with more minor ataxia in two siblings, moderately severe @PHENOTYPICFEATURE$ without spasticity in the third, and a very mild gait ataxia in the fourth.	false
+384e7cc063fc230e879e3484cc2e65a77c0be9ae	This spectrum encompasses moderately severe @DISEASE$ (HSP) with more minor ataxia in two siblings, moderately severe @PHENOTYPICFEATURE$ without spasticity in the third, and a very mild gait ataxia in the fourth.	false
+dc919cc4d6acfdef707dd8f28289cbf00897b1ee	This spectrum encompasses moderately severe hereditary spastic paraparesis (@DISEASE$) with more minor ataxia in two siblings, moderately severe ataxia without @PHENOTYPICFEATURE$ in the third, and a very mild gait ataxia in the fourth.	false
+0e259bae6c5d702bf5248dcf3905200f20e15988	This spectrum encompasses moderately severe @DISEASE$ (HSP) with more minor ataxia in two siblings, moderately severe ataxia without @PHENOTYPICFEATURE$ in the third, and a very mild gait ataxia in the fourth.	false
+f7951e877fbf8135b6227c3777552fc8928df6cf	This spectrum encompasses moderately severe hereditary spastic paraparesis (@DISEASE$) with more minor @PHENOTYPICFEATURE$ in two siblings, moderately severe ataxia without spasticity in the third, and a very mild gait ataxia in the fourth.	false
+a2bf87fbcbd7b97ee32650580b94d6d31edaeff0	This spectrum encompasses moderately severe @DISEASE$ (HSP) with more minor @PHENOTYPICFEATURE$ in two siblings, moderately severe ataxia without spasticity in the third, and a very mild gait ataxia in the fourth.	false
+7ba9475b2c703b7ae1ec1f3ef122197080815bef	@DISEASE$ or spinocerebellar @PHENOTYPICFEATURE$?	false
+0a68295618472d65a748f2ce6ac6e951ef6bf837	In hereditary spastic paraplegia (@DISEASE$), the axons of cortical motor neurons degenerate and cause a @PHENOTYPICFEATURE$ movement disorder.	false
+2ee57e61749deb4f62ae5f7122f7f6e3ee66c0e3	In @DISEASE$ (HSP), the axons of cortical @PHENOTYPICFEATURE$ and cause a spastic movement disorder.	false
+5fe706623c8b936004dd487104545e5fef5f1ce5	In hereditary spastic paraplegia (@DISEASE$), the axons of cortical @PHENOTYPICFEATURE$ and cause a spastic movement disorder.	false
+6b44c1cbf6ccd2ea76d6a278265b8c91060999f4	In @DISEASE$ (HSP), the axons of cortical motor neurons degenerate and cause a @PHENOTYPICFEATURE$ movement disorder.	false
+1f82216cf211e913722a9458f2b948bd38d64076	Hereditary spastic paraplegia (@DISEASE$) is characterized by weakness and @PHENOTYPICFEATURE$ of the lower extremities.	false
+67efaa9ca56c4231872eb0dd1362f43871cd8a08	@DISEASE$ (HSP) is characterized by weakness and @PHENOTYPICFEATURE$ of the lower extremities.	false
+8488fd26a0ad16b24f26139bbccc07757f8488a7	In Drosophila models of AD-@DISEASE$, larvae lacking Spastin exhibit @PHENOTYPICFEATURE$ and function, and most die as pupae.	false
+c3d6d5cd4a06c4934e14877a6e82fa7c77ad8c43	@DISEASE$ (HSP) and hereditary @PHENOTYPICFEATURE$ (HSA) are a?heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction.	false
+d664454221b504c160a42f563dada3907858be98	Hereditary spastic paraplegia (@DISEASE$) and hereditary @PHENOTYPICFEATURE$ (HSA) are a?heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction.	false
+d3b3119ce77c6d67df9874c8473db0124fc49ee1	Management of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+09d41e3bc3c6c0838f46f806b3b71ce8c500fc3d	@DISEASE$ (HSP) is an inherited neurological condition that leads to progressive spasticity and @PHENOTYPICFEATURE$.	false
+9ecbf8c930831d7db38f20bb1fc6a3cbeb2338d8	Hereditary spastic paraplegia (@DISEASE$) is an inherited neurological condition that leads to progressive spasticity and @PHENOTYPICFEATURE$.	false
+62c1fa04e6a0cb1791cabe259322f0fdbca6d19f	Hereditary spastic paraplegia (@DISEASE$) is characterized by lower extremity @PHENOTYPICFEATURE$.	false
+332816a5dddd8ae6abe7c2e4bf82982bb1d782e8	@DISEASE$ (HSP) is characterized by lower extremity @PHENOTYPICFEATURE$.	false
+7ac4b71f3519d43e798431de4596c56fad625bce	[@DISEASE$ & @PHENOTYPICFEATURE$ in a family].	false
+720b4685bf05e2f48ca2ee1ef4ea868f53fcc367	In recent years, Cu isotopes have been linked to antibodies, proteins, peptides, and nanoparticles for preclinical and clinical research; pathological conditions that influence Cu metabolism such as @DISEASE$, Wilson disease, inflammation, @PHENOTYPICFEATURE$ growth, metastasis, angiogenesis, and drug resistance have been studied.	false
+1c845be8e45ef02627d3fdccf7e0c532b9cbf246	A case of @DISEASE$ associated with deafness and inferior @PHENOTYPICFEATURE$.	false
+c1fd10f8cee09f3c012624c299e2cd752e8cdf50	@DISEASE$ is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, @PHENOTYPICFEATURE$, hypopigmented sparse hair and connective tissue abnormalities.	false
+201562c68ca7eda040d251cce572d9d8205c87dc	There are two major syndromes, one characterized by muscle involvement (fatal infantile or benign infantile myopathy), the other dominated by brain disease (Leigh syndrome, @PHENOTYPICFEATURE$ epilepsy with ragged red fibers, @DISEASE$).	false
+7be8731740b671ec7519deb6944d2e4460847dfb	Such conditions, include cystic fibrosis, HIV/AIDS, @PHENOTYPICFEATURE$, Alstrom syndrome, hypophosphatasia, Prader-Willi syndrome, Tricho-dento-osseous syndrome, @DISEASE$, familial steroid dehydrogenase deficiency and epidermolysis bullosa.	false
+ebcbec89201b1b02b088064363ed7f57257a2006	We evaluated two patients with @DISEASE$ (TS) and @PHENOTYPICFEATURE$.	false
+981d362b8611a5370f73c305c8879e82bb786a00	In the postnatal period, @DISEASE$ was found in one patient, Down syndrome in one, and @PHENOTYPICFEATURE$ foot deformity in one.	false
+cd3f8160ced5205932a4383d670b7fc59cac8bc8	In the postnatal period, @DISEASE$ was found in one patient, Down syndrome in one, and equinovarus @PHENOTYPICFEATURE$ in one.	false
+7d824396ca6d9fabffbc2967d69d26d217113c13	We present a case of profound @PHENOTYPICFEATURE$ in a 17-year-old male with @DISEASE$.	false
+9402ac13b01650ef847384cebd3175b00c3b2b8d	Unilateral @PHENOTYPICFEATURE$ associated with eyelid ash-leaf macule in @DISEASE$.	false
+93062ea11db198ad700bfb068448664a3a9641b4	Numerous clinical descriptions and some familial studies on linkage suggested a possible relationship between @DISEASE$, polycystic kidney disease, @PHENOTYPICFEATURE$ with microophtalmia, ATR-16 syndrome, asthma, epilepsy, certain forms of autism, mental retardation and bipolar disorder, given the closeness of these vulnerability genes on the short arm of the chromosome 16.	false
+8ad4502289a995f9da06be47e095f19c3011551b	Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, @PHENOTYPICFEATURE$/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, @DISEASE$),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura).	false
+6bf4f9998b41c4bf364f1c50ac1f62e95c959574	Bilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3e7e0f1759048aca61522b0e8251bc439ca5f76d	A rare case of @PHENOTYPICFEATURE$ due to serous detachment associated with retinal "mulberry" hamartoma in a case of @DISEASE$.	false
+b78b590248f9dd0cd554fa26bfc4210bad3664c0	A 9-month-old male child with @DISEASE$ presented with ash-leaf macules on the left periocular region and ipsilateral dense @PHENOTYPICFEATURE$.	false
+415b44f7e65020683ae5dafd8000d47ee733ecce	Interestingly, the protein encoded by IKBKAP/ELP1, IKAP or ELP1, is a key scaffolding subunit of the six-subunit Elongator complex, and variants in other Elongator genes are associated with amyotrophic lateral sclerosis (ALS), @PHENOTYPICFEATURE$, and @DISEASE$.	false
+d50c935cf00d6b98bf94aa32fbd7257c871d2b42	@DISEASE$: an uncommon presentation with leg @PHENOTYPICFEATURE$.	false
+7df1ecdb607ef92c89d1d8a7def409b8292d4a5a	@DISEASE$ should be considered as a possible differential diagnosis in the management of hepatic @PHENOTYPICFEATURE$.	false
+84016c1ce7cc41b1a785cecb8961c125c73ffdcf	Biopsies from the orbit and from the primary hepatic neuroendocrine carcinoma showed similar morphological and immunohistochemical features, and high-resolution, array-based comparative genomic hybridization demonstrated loss of one copy each of chromosomes 3 and 18, and gain of 1q both in the @DISEASE$ and in the orbital @PHENOTYPICFEATURE$.	false
+d630f35175c7423781847dea4071004ed7d7a7c0	Biopsies from the orbit and from the @DISEASE$ showed similar morphological and immunohistochemical features, and high-resolution, array-based comparative genomic hybridization demonstrated loss of one copy each of chromosomes 3 and 18, and gain of 1q both in the primary hepatic neuroendocrine carcinoma and in the orbital @PHENOTYPICFEATURE$.	false
+c930fc16d823cc86cc43884b34a7ec3b8a193944	This @PHENOTYPICFEATURE$ was diagnosed as a @DISEASE$ with metastasis to the lung, gallbladder and lymph nodes around the pancreas and aorta; no primary lesions were detected in any other organ.	false
+17784242d180f1882e5e5dff7ae1dd54cb387f2f	@DISEASE$ is extremely rare and is diagnosed only after exclusion of other primary @PHENOTYPICFEATURE$.	false
+8f90309543c9fcb9923943e5e93a85384dbcf402	Combined @DISEASE$ (PHNEC) and hepatocellular carcinoma (HCC) is a very rare malignant hepatic @PHENOTYPICFEATURE$.	false
+cd6b41eb538d38e3f1df63ebdb6f7f8f2c5e7043	@DISEASE$ is an extremely rare @PHENOTYPICFEATURE$ of the liver.	false
+a255c96d1e81c4a4debe68df1e3f5ec2ca490a38	We also review previous reports of @DISEASE$ and discuss hypotheses for the histogenesis of these @PHENOTYPICFEATURE$ as well as prognostic implications.	false
+ad95e6abbb3bef688db4e93863f56d142381043b	Vascular emboli and intrahepatic micrometastasis were also identified with chromogranin A. All these features were consistent with a @DISEASE$ and emphasized the importance of using a panel of antibodies to diagnose such rare @PHENOTYPICFEATURE$.	false
+3fde3db0c2b0f56d899ef6a0c6b1dd06564ec670	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), @DISEASE$ (1/21), Lafora disease (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+de92a566e956213d5d1b14b0ef64c5b7aa05c13a	A case of latent @DISEASE$ accompanied by @PHENOTYPICFEATURE$ and dwarfism is described.	false
+05c8492c62b518690f3174f5980df6a6db86c9ad	[A case of @DISEASE$ associated with @PHENOTYPICFEATURE$].	false
+06ec16048f6c9af479883fbf4d0c8e0fcc0f6950	Myalgias and muscle @PHENOTYPICFEATURE$ as the presenting signs of @DISEASE$.	false
+99940480a53167cbb8f192cfd843b5471ea8c8a7	Pseudohyperkalemia, @DISEASE$, @PHENOTYPICFEATURE$, classical hyporeninemic hypoaldosteronism, isolated hypoaldosteronism, and iatrogenic causes were excluded.	false
+46e1e7bd0f03b75bd4fc153e0a539c6ee3bd650b	[Syndrome of (faciobrachio-abdomino-crural) muscular @PHENOTYPICFEATURE$ in @DISEASE$].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+9957a7102f4bc138d875f84de168a4b5568858ee	[A case of latent @DISEASE$ with @PHENOTYPICFEATURE$ and dwarfism].	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+97e360805c78f6613e2eae771f76385bcecffece	A syndrome comprising @DISEASE$, renal microangiopathy and @PHENOTYPICFEATURE$ is described in two patients.	false
+9d307d72e176202e6590b17872d811cfbd9ec95f	@DISEASE$ with renal microangiopathy and @PHENOTYPICFEATURE$ (a new syndrome).	false
+6596b3cffaadfe909044d6bcbe84a004c0e7cbba	Although mild-to-moderate intellectual disability is usually considered part of @DISEASE$ (Wilms' tumour (WT), Aniridia, @PHENOTYPICFEATURE$, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature.	false
+6e004294b14906910635badea9cddcfb9050df20	Although mild-to-moderate intellectual disability is usually considered part of @DISEASE$ (Wilms' @PHENOTYPICFEATURE$ (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature.	false
+ad489d71330512639bbb87c9de1afdce1133ec25	We reviewed histological findings of nontumoral kidney samples of 7 patients with @DISEASE$ at the time of @PHENOTYPICFEATURE$ surgery.	false
+3b1d9d7e421788719b9dc8cd278ed811cbd13622	The 46,XY patients with @DISEASE$ are often born with @PHENOTYPICFEATURE$ such as cryptorchidism or hypospadias but more rarely ambiguous genitalia.	false
+9392c201d2f437010cd530d5650170a54586ccbc	Identification of mutations in the WT1 gene in @PHENOTYPICFEATURE$ from patients with the @DISEASE$.	false
+eabfa9f7dec251cb77b9aeaf8cece1d06ba90971	Aniridia can arise as part of the @DISEASE$ (Wilms @PHENOTYPICFEATURE$.	false
+293e30eccb88f129bc7ccbe7a873273ec6c816a6	Patients with @DISEASE$ and Wilms' tumor have risk of contralateral @PHENOTYPICFEATURE$ and are a group of patients benefitted by nephron-sparing surgery (NSS).	false
+fbb091b042d0f2af3eb4b0782b4de4461ab9d2ea	@DISEASE$ consists of Wilms' @PHENOTYPICFEATURE$, aniridia, genitourinary malformations and mental retardation, and is associated with chromosomal microdeletion of 11p13.	false
+e59bd185007f029ee8348ce1cfc80792edb907f8	Insertional inactivation of the WT1 gene in @PHENOTYPICFEATURE$ cells from a patient with @DISEASE$.	false
+18681bf197f78775b15968a63647ead04a21d2a2	A single mutation, a 226 bp intragenic deletion, was detected in a @PHENOTYPICFEATURE$ from a patient with the @DISEASE$.	false
+d8fb37c358376db50181dad351d1b526ba757755	Although most Wilms' @PHENOTYPICFEATURE$ are sporadic, a genetic predisposition is associated with aniridia, genito-urinary malformations and mental retardation (the @DISEASE$).	false
+68bc03019bf1266649b4e6f05e7232b5dcccf866	A 35-year-old man, for 6 years known to have @DISEASE$ (NHL) was admitted because of deteriorating general condition, @PHENOTYPICFEATURE$ and 11 days of flu-like symptoms.	false
+a78fa72d9a9ce90ac54bd0c6fef57f03d21ea299	The occurrence of @PHENOTYPICFEATURE$ associated with @DISEASE$ (NHL) is uncommon.	false
+7716017ef6429fbc7238fca2a252c2da0b7f9661	After admission, @PHENOTYPICFEATURE$ occurred and were diagnosed histologically as @DISEASE$, diffuse pleomorphic.	false
+4cbf501b0a304d5e876f781044541513b40a1c7b	Bortezomib-containing combinations are active in @DISEASE$ (NHL) although @PHENOTYPICFEATURE$ can limit their dose intensity.	false
+897f12df98fb281cb94e7ddb159040e299159f36	Progressive systemic sclerosis and @PHENOTYPICFEATURE$ as a paraneoplastic syndrome in @DISEASE$.	false
+96872e6507a4473c1c299429906fdd1e7c283e11	A high incidence of severe @PHENOTYPICFEATURE$ occurred during the pilot study of a new regimen for the treatment of @DISEASE$.	false
+47fb824ffc4678f4ed99d97a642fca5b82b91755	A 68-year-old woman presented with multiple @PHENOTYPICFEATURE$ infiltrative nodules and plaques on her face, trunk and extremities, 7 months after having complete remission from chemotherapy treatment of @DISEASE$.	false
+d5e21a59c87aaa43b64beddfbccf2bfb3bfc8078	A patient is described with @DISEASE$ and @PHENOTYPICFEATURE$ skin nodules suspected to be erythema nodosum.	false
+30741788ae5e0460da893c9bed53279a441900a2	A patient is described with @DISEASE$ and erythematous @PHENOTYPICFEATURE$ suspected to be erythema nodosum.	false
+db5dfe11b73fed958ef0967c7d834ec0b76f5f74	Primary tumors included rhabdomyosarcoma, neuroblastoma, tumors of the Ewing sarcoma family, @DISEASE$, and malignant @PHENOTYPICFEATURE$.	false
+b18be6c7dfd49e9aa93fabc639cfc22181046779	@PHENOTYPICFEATURE$ in @DISEASE$ patients receiving vincristine with and without aprepitant/fosaprepitant.	false
+ee899792def2f500bc07e0080b173bbe1e759f01	Among the multiple organ disorders caused by the @DISEASE$ coronavirus (SARS-CoV), acute lung failure following atypical @PHENOTYPICFEATURE$ is the most serious and often fatal event.	false
+e2ace7cfea785e082fea038cda834f893e462292	@DISEASE$ (SARS), a new disease with symptoms similar to those of atypical @PHENOTYPICFEATURE$, raised a global alert in March 2003.	false
+71efb0a26b9273588abd7948037244df353452b2	@DISEASE$ coronavirus (SARS-CoV) is the etiological agent of SARS, an emerging disease characterized by atypical @PHENOTYPICFEATURE$.	false
+b934b78a155f7070d10ffbcc67c15b1c51434c81	The outbreak of severe acute respiratory syndrome (SARS) in 2003 in China, characterized by atypical @PHENOTYPICFEATURE$, was associated with the emergence of a novel coronavirus named @DISEASE$ coronavirus (SARS-CoV).	false
+7f8e2551bbf513f3b5bd12e594cd503293cae76d	The outbreak of @DISEASE$ (SARS) in 2003 in China, characterized by atypical @PHENOTYPICFEATURE$, was associated with the emergence of a novel coronavirus named severe acute respiratory syndrome coronavirus (SARS-CoV).	false
+727a706657c66f24b7a8d051dfeeb46def183b00	@DISEASE$ (SARS) is a highly contagious and typically rapidly progressive form of atypical @PHENOTYPICFEATURE$, which spread from Asia to many parts of the world in early 2003.	false
+bfbf19ab6a07fdf8599dc4e1d7e5f52cbd6dd820	Severe acute respiratory syndrome-associated coronavirus (@DISEASE$-CoV) infection causes lung failure characterized by atypical @PHENOTYPICFEATURE$.	false
+3c0c1b958d1b44c78249c9992c02c29a7b463529	@DISEASE$-associated coronavirus (SARS-CoV) infection causes lung failure characterized by atypical @PHENOTYPICFEATURE$.	false
+d6cd5f163b723e118d66f84a0eb5d01e27b5595d	@DISEASE$ (SARS) is an emerging disease characterised by fever and atypical @PHENOTYPICFEATURE$ and caused by a novel coronavirus.	false
+b8c11d66551d9058268eea989bcca0b1b0d6d2ee	Data on morbidity and mortality from @DISEASE$ (SARS, atypical @PHENOTYPICFEATURE$) and avian influenza are analyzed and compared with World Health Organization data on human influenza.	false
+490b0d469903659b5cfd48bd0aeb1fe7dc0fc606	Since the outbreak of a highly contagious new pneumonia, atypical @PHENOTYPICFEATURE$ or @DISEASE$ (SARS) occurred in Guangzhou area, 33 children with this syndrome were treated in the authors' hospital.	false
+71efb0a26b9273588abd7948037244df353452b2	@DISEASE$ coronavirus (SARS-CoV) is the etiological agent of SARS, an emerging disease characterized by atypical @PHENOTYPICFEATURE$.	false
+968ea65a82f007b4de6f7d1084a83f81ff3c2642	In present study the non-dialysable protein fraction isolated from the latex (LP) of this plant was evaluated for its efficacy against inflammation in rats where paw @PHENOTYPICFEATURE$ was induced by sub-plantar injection of carrageenin or monoarthritis was induced by intra-articular injection of Freund's complete adjuvant (@DISEASE$).	false
+79a3b27312692d50b1c59252b7f3e3941bd11524	In conclusion, both SPP and SPE at the specified dose level of 200 mg/kg, p.o. showed reduction in rat paw @PHENOTYPICFEATURE$ volume and it could significantly normalize the haematological and biochemical abnormalities in adjuvant induced arthritic rats in both developing and developed phases of @DISEASE$ induced arthritis.	false
+90ee36f0a4fe834528abfec284be5889fb5d8a2b	@DISEASE$ patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, @PHENOTYPICFEATURE$, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands.	false
+14377a9f82a8d5497908bef67858f756c5ffbf3e	Ocular complications included @DISEASE$ (1.9%), @PHENOTYPICFEATURE$ (5.9%), secondary glaucoma (7.8%), optic atrophy (1.9%), and postherpetic neuralgia (13.3%).	false
+9e3f3f31ca28f753291ac1825e1c8b69fe524803	In disproportionate syndromes, such as @DISEASE$, pseudopseudohypoparathyroidism, @PHENOTYPICFEATURE$, and hypophosphataemic rickets, the results of growth hormone therapy are not encouraging.	false
+026d7a8bfd9515500f5210c98d18ec4f8d0cc49b	Aarskog syndrome (@DISEASE$) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and @PHENOTYPICFEATURE$.	false
+e59a983c4d57cbb174114182fc2c8145ad3d8bc8	Here we have compared the effects of the p14ARF (Alternate Reading @DISEASE$) @PHENOTYPICFEATURE$ suppressor, a translational suppressor frequently overexpressed in cancer, on cap-dependent translation versus cap-independent translation from the EMCV viral IRES often used in bicistronic gene transfer vectors.	false
+0e926572a3d56e125afe90c633fe478a37ce7bcc	Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology (nocturnal frontal lobe epilepsy, @DISEASE$, episodic ataxia, hemiplegic migraine, deafness, stationary night blindness), nephrology (X-linked recessive nephrolithiasis, Bartter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia congenita, paramyotonia, @PHENOTYPICFEATURE$), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized.	false
+67f011a3df6409ef79710b9dd82fbb81619cd423	Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from @DISEASE$ (BFNS) to epileptic encephalopathy with @PHENOTYPICFEATURE$, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features.	false
+ab104f379587a97ca1b7c3650a28dcd67f78a2d3	Quinupristin/dalfopristin and voriconazole controlled Staphylococcus epidermidis @PHENOTYPICFEATURE$ and chronic necrotizing aspergillosis in a patient with severe lung degradation consequent to multiple treatments for @DISEASE$.	false
+c0b3504b5ba80bb861d3dc6060dad3693945560c	Primary diagnoses were?lung cancer (n?=?77), melanoma (n?=?8), head and neck carcinoma (n?=?7), renal carcinoma (n?=?5), @DISEASE$ (n?=?3), urothelial carcinoma (n?=?3) and gallbladder adenocarcinoma, @PHENOTYPICFEATURE$ and Merkel cell carcinoma (n?=?1 each).	false
+809fbe4fdb52a4c845dade290f786a417bf33164	Two years later, the patient developed enlarged nodes which were diagnosed as @DISEASE$, and a review of prior @PHENOTYPICFEATURE$ confirmed the diagnosis of PPHL.	false
+1688159d2a89249599db405b375d119ec7ab7f61	Varicella @PHENOTYPICFEATURE$ in a patient with herpes zoster generalisatus; report of a case in a patient with @DISEASE$.	false
+98543ca9ba691b39f19c9e61b19b9ddffb150108	Dose distributions were significantly altered by inhomogeneity corrections in the treatment plans for the @PHENOTYPICFEATURE$, and, to a lesser degree, for the breast and @DISEASE$.	false
+7a1ccaea2049175977cd6ba5a650de388288ece8	A 42-year-old woman with a remote history of @DISEASE$ (treated with irradiation) and thyroid carcinoma, both of which were in remission, presented to the Emergency Department with fever, @PHENOTYPICFEATURE$, and diarrhea.	false
+950c1ee68c38cb343d738b6a210608c0675f91e1	Adequate vitamin D status has been linked to decreased risks of developing specific cancers, including cancers of the esophagus, stomach, colon, rectum, gallbladder, pancreas, lung, breast, uterus, ovary, prostate, urinary bladder, kidney, skin, thyroid, and hematopoietic system (e.g., @DISEASE$, non-Hodgkin's lymphoma, multiple myeloma); bacterial infections; rheumatoid arthritis; Crohn's disease; periodontal disease; multiple sclerosis; asthma; type 2 diabetes; cardiovascular disease; stroke; peripheral artery disease; hypertension; chronic kidney disease; muscle weakness; @PHENOTYPICFEATURE$; Alzheimer's disease; clinical depression; and premature death.	false
+49d6280c5cd4117142c4fd7435b2a6248d1f6910	Because of the late onset of the disease, @PHENOTYPICFEATURE$ compared with a small macular anatomical lesion and a history of @DISEASE$ 30 years ago, a neoplastic etiology was investigated.	false
+f9963eca22fcbf280a82505096253112a2d8ee5a	Mediastinal irradiation has been a major component of the treatment of @DISEASE$ as well as breast and @PHENOTYPICFEATURE$.	false
+0d61d6b49c8b8167b6b0225bccd8710fa364da8a	A number of pathologies of IL-2 production or activity have been defined, including @DISEASE$, graft versus host disease, @PHENOTYPICFEATURE$, lepromatous leprosy, acquired immune deficiency syndrome, and adult T cell leukemia.	false
+aebad018842da5dce93cfa53883eb39ceb6c3a6b	When the failure causes the balance to be polarised in favour of the effect of plasma noradrenaline that is believed to cause inflammatory diseases like @DISEASE$ cardiac failure, renal @PHENOTYPICFEATURE$, varicose veins and aneurysms; when it causes it to be polarised in favour of the effect of neuronal noradrenaline that is believed to cause genetic diseases like hypertrophic cardiopathy, pulmonary hypertension and stenoses and when, in pregnancy, a factor causes the polarity to favour plasma noradrenaline in all the maternal tissues except the uterus and conceptus, where it favours neuronal noradrenaline, that is believed to cause preeclampsia.	false
+c3c95d0ffe205265cad3eccf74530c58eece21a9	The classical type of XP-A and some of the @DISEASE$ patients exhibit @PHENOTYPICFEATURE$.	false
+fe990f9b910dd15ae90e12fcfb8d2165cf9690a6	This article reviews the @DISEASE$ group and the defects in cellular DNA repair and examines the lack of correlation between repair and the appearance of @PHENOTYPICFEATURE$.	false
+aa5f048cd901243a8d1d03baa1a2c3d3e1c74ffe	Although @DISEASE$ (PCP) usually presents with bilateral interstitial @PHENOTYPICFEATURE$, many other roentgenographic presentations occur in human immunodeficiency virus-infected patients.	false
+aa3823952d71821dc9d8b6da5748c4c61831a815	@DISEASE$ (17.8%), @PHENOTYPICFEATURE$ (8.9%), and bronchiolitis obliterans organizing pneumonia (8.9%).	false
+8660a1972dcf4cdcb4d56aa8109222479b8335d1	Results obtained in cases of normal lungs, @PHENOTYPICFEATURE$, alveolitis, hypersensitivity pneumonitis, emphysema, @DISEASE$, silicosis-asbestosis, and idiopathic pulmonary fibrosis demonstrated the method to be accurate in correlating high-resolution CT findings and the corresponding histologic data.	false
+254759f0d068bedeb3568ee6c1fed24c727d5c66	Although most entities show non-specific HRCT findings including ground-glass opacity and air-space consolidation, characteristic findings are observed in several pulmonary complications including @DISEASE$, fungal infections, miliary tuberculosis, leukemic infiltration, @PHENOTYPICFEATURE$, bronchiolitis obliterans, and bronchiolitis obliterans organizing pneumonia.	false
+89f4cbab66804b2f32aed7a42d0587e7f01ce053	The ground glass opacity may also be observed in @PHENOTYPICFEATURE$, desquamative pneumonitis, @DISEASE$, alveolar proteinosis, hypersensitive pneumonitis and drug induced or radiation induced lung disease.	false
+8b97403cc7c48947cf8cfd0e88dd57bf67009470	10 cm H2O of nasal continuous positive airway pressure (CPAP) was applied in nine subjects with @DISEASE$ and the acquired immunodeficiency syndrome, all of whom had presented with bilateral @PHENOTYPICFEATURE$ and hypoxaemia.	false
+343fcd070adc73b2abe6b8d2a717b4e68bafab8e	Similar to the early phase, @PHENOTYPICFEATURE$, viral pneumonia, and rarely TRALI might cause diffuse infiltrates during the late phase, in addition to immune reconstitution and @DISEASE$, particularly among patients with acute lymphoblastic leukemia.	false
+c9176c8f4927374ff42799c494bb0d7c5d75a9b9	These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant @DISEASE$ @PHENOTYPICFEATURE$ and tumoral calcinosis.	false
+d5dadd1f8a858e6e92277e7f298a4a80bb5d8c00	@DISEASE$ (ARHR) is a heritable disorder characterized by @PHENOTYPICFEATURE$, osteomalacia, and poor bone development.	false
+c525bccccfbced713da93ee4b494bbc71c7b2d5c	The bone and dentin lesions, plus the marked @PHENOTYPICFEATURE$ and elevated serum alkaline phosphatase and FGF23 levels, are indicative of @DISEASE$/osteomalacia in Fam20c                 (-/-) mice.	false
+a0e74eed55794f5d3b05f17b463684d5ae091aff	To the authors' knowledge, we report the earliest clinical presentation of @DISEASE$ resulting from a de novo @PHENOTYPICFEATURE$ in ZEB1.	false
+61a4d722fb72f3ac2ae1260f288e3fbce2ec0327	On postnatal follow-up she was noted to have developmental delay, @PHENOTYPICFEATURE$, autism spectrum disorder, and @DISEASE$ (PPD).	false
+a9d730ef9ff84e5033c6b3b6afdf953a99c19f1c	Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, @PHENOTYPICFEATURE$, and @DISEASE$ associated with ZEB1 gene deletion.	false
+8d885c1438a6e1774cec0c1d1954b8a7af7d3378	Mutations in the ptpn11 gene cause Noonan syndrome, @DISEASE$ and childhood @PHENOTYPICFEATURE$.	false
+1c0eaeb4807af1704040b67fafb67b77969ede0c	@DISEASE$ (MIM #151100) is a rare autosomal dominant condition with characteristic skin anomalies, facial dysmorphism, hypertelorism, cardiac anomalies, and occasional @PHENOTYPICFEATURE$.	false
+12127ba714e90f0636ddc5c27e5afa8f5776509f	Phenotypic abnormalities were noted in two infants with CPM and three infants of non-CPM group: One with CPM22 had ASD and hypospadias, one with CPM7/13 had Russell-Silver syndrome (@DISEASE$), and one without CPM had @PHENOTYPICFEATURE$, and two without CPM had RSS.	false
+74ce80a4f242d5c885f37fae9c9626aef9e16651	A consistent feature in these three families was the presence of early @PHENOTYPICFEATURE$ of the spine, scoliosis, and reduced vital capacity, as found in @DISEASE$ (RSS).	false
+30e92017219daae1ac8151e5bac4d7c4224b6f05	A consistent feature in these three families was the presence of early @PHENOTYPICFEATURE$ of the spine, scoliosis, and reduced vital capacity, as found in rigid-spine syndrome (@DISEASE$).	false
+461aa4e6f3f246704d232d368b10f66557111860	@DISEASE$ is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	false
+358cba7fb8067ccee9424582c17b0eee410e7c4d	In those individuals who are immunologically sensitized, reexposure to TMA can result in well described immunologic syndromes: asthma-rhinitis, late respiratory systemic syndrome (LRSS), and very rarely pulmonary disease @PHENOTYPICFEATURE$ syndrome (@DISEASE$).	false
+39d8dd16d291645ae5c2f0551ab425a528008e6d	The evaluation consisted primarily of periodic serum antibody studies and a questionnaire that identified symptoms compatible with allergic asthma and/or rhinitis, late respiratory systemic syndrome (LRSS), or pulmonary disease @PHENOTYPICFEATURE$ (@DISEASE$) syndrome.	false
+7f921acb9dcf7b9c0394c2caac1168fb8ec75ab9	Mutations of N-acylsphingosine amidohydrolase 1 are known to separately cause @DISEASE$ (arthritis, @PHENOTYPICFEATURE$, and dysphonia) or SMA with progressive myoclonic epilepsy.	false
+d4b634bdb899550bb7ceeba2da0ce558ab185675	@DISEASE$ should be considered as differential diagnosis in children with early onset of poly articular involvement with @PHENOTYPICFEATURE$ and/or hoarseness.	false
+e8be339d33662d2b050c0294693c02ae9f5a9140	@DISEASE$ is a rare lysosomal storage disease characterized by a clinical triad including painful joint deformity, @PHENOTYPICFEATURE$ and hoarseness, due to progressive granulomatous inflammation.	false
+d2e1b5cd2fc4dd29109fcc2f6e2f98ea461b6fa5	The function of acid ceramidase (ACDase), whose congenital deficiency leads to @DISEASE$, has been recognized to be vital to @PHENOTYPICFEATURE$ cell biology, and inhibition of its activity may be beneficial in cancer therapy.	false
+4bdda6d4d4d4030956589aaa817ca352ddb52f40	@DISEASE$ is a rare recessive autosomal disorder presented with three main features of joint involvement, @PHENOTYPICFEATURE$ and hoarseness.	false
+e98da59d0786ce242307f06d80b4e721d9445589	Farber disease caused by @DISEASE$ is characterised by a triad of painful and swollen joints, @PHENOTYPICFEATURE$, and laryngeal involvement.	false
+91c459f2e6a8eeebd036551a361a69e3cf90eff8	@DISEASE$ caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, @PHENOTYPICFEATURE$, and laryngeal involvement.	false
+f45e0816ef14282456e29fcbf260479b8956a514	The gross appearance and the histomorphological and cytomorphological features of the most frequent SMLs are described, including @DISEASE$ (GIST), leiomyoma, lipoma, carcinoid, granular-cell tumor, glomus tumor, schwannoma, submucosal metastases, Brunner's gland @PHENOTYPICFEATURE$, pancreatic rests, and cysts.	false
+ff1fffea5fa65bf482596f21e5686f7b872d1883	However, a number of other lesions can mimic the CT appearance of pancreatic neuroendocrine tumors, including pancreatic metastases, acinar cell carcinoma, pancreatoblastoma, solitary fibrous tumor, pancreatic @PHENOTYPICFEATURE$, serous adenoma, intrapancreatic splenules, exophytic @DISEASE$, and peripancreatic paragangliomas.	false
+d22aeb80c22f35bf022c3ca1dc9c7051fb647361	Final pathology demonstrated a median tumor size of 2.9 cm with a final histologic diagnoses of adenoma (n?=?13), neuroendocrine tumor (n?=?6), @DISEASE$ (GIST) (n?=?2), lipoma (n?=?2), Brunner's gland @PHENOTYPICFEATURE$ (n?=?1), leiomyoma (n?=?1), and gangliocytic paraganglioma (n?=?1).	false
+8823fe1daba4d292030a7ac853d7e2d58a36850c	Pathological diagnosis of these lesions included @DISEASE$ (8/11), heterotopic pancreas (1/11), @PHENOTYPICFEATURE$ (1/11), and leiomyoma (1/11).	false
+c948776c55a22f5c50a161b3a7d0a818d993b5b9	The types of tumor diagnosed by capsule endoscopy included 8 adenocarcinomas (1.4%), 10 carcinoids (1.8%), 4 @DISEASE$ (0.7%), 5 lymphomas (0.9%), 3 inflammatory polyps, 1 lymphangioma, 1 lymphangioectasia,1 hemangioma, 1 @PHENOTYPICFEATURE$, and 1 tubular adenoma.	false
+30ffa232bbedb4dca00c9873bb7d96a4ac6b37e4	Cellular @PHENOTYPICFEATURE$ resembling @DISEASE$: a solid tumor of the pancreas expressing c-kit (CD117).	false
+9f091ed77777d8c408f408cecab93995bfccc6b3	[Experience of complete Carney's triad showing pulmonary @PHENOTYPICFEATURE$ associated with @DISEASE$ and para-arotic paraganglioma].	false
+5d4007717e30464ae629ddf37e582b21a6bb0ba8	Atypical presentation of myoepithelial @PHENOTYPICFEATURE$ in the antrum of the stomach, mimicking a @DISEASE$: a case report.	false
+afa12548f01713e4c172e9669d5f2205101ecb28	The most common SBTs identified were: carcinoid (26/134, 19.4%), @PHENOTYPICFEATURE$ (14/134, 10.4%), inflammatory polyp (11/134, 8.2%), @DISEASE$ (10/134, 7.5%), and lymphoma (10/134, 7.5%).	false
+3bb834474ed785cda580306881703c0b35ccc2bc	Crowned dens syndrome (@DISEASE$) is a rare cause of acute headache and neck pain, which is accompanied by @PHENOTYPICFEATURE$ and a stiff neck.	false
+d68fdb2e22c29c3df70cbe26766d1db36f3b3291	Taking into account that calcifications of TLA may manifest as @DISEASE$ in a high percentage of these patients, such possibility should be considered in all patients with neck pain, stiffness, @PHENOTYPICFEATURE$, and inflammatory response so as to avoid invasive diagnostic methods and more aggressive treatments than the use of nonsteroidal anti-inflammatory drugs.	false
+54d6bca8c8ac88042a5de29502bae938966be791	Crowned dens syndrome (@DISEASE$) is a rare form of calcium phosphate crystal depositions and often presents with recurrent neck pain, stiffness of neck, increased erythrocyte sedimentation rate, and episodes of @PHENOTYPICFEATURE$.	false
+9426edc80505f296a4ef78808f4f624f66ef0dc7	We present a unique case of crowned dens syndrome (@DISEASE$) that developed after endoscopic retrograde cholangiopancreatography (ERCP) in a patient who presented with @PHENOTYPICFEATURE$ and neck pain.	false
+e9ff4f951cd59757447695793f71ed6a093f215b	In an infant with @DISEASE$, control of the blood glucose concentration was attained with ultralente insulin treatment, without any episodes of @PHENOTYPICFEATURE$.	false
+757b9ba51874a30eda8b1af12d2edc4969475da1	The clinical phenotypes of the genomic imprinting-associated paternal UPD 6 (@DISEASE$), maternal UPD 7 (Silver-Russell syndrome), paternal UPD 11p (Beckwith-Wiedemann syndrome), maternal UPD 14 (precocious puberty, @PHENOTYPICFEATURE$ and highly variable developmental delay), paternal UPD 14 (polyhydramnios and a bell-shaped thorax), maternal UPD 15 (Prader-Willi syndrome), paternal UPD 15 (Angelman syndrome), maternal UPD 16 and UPD 20, as well as the diagnostic options, are summarized.	false
+0c866b7e07f1ce002c151afaa9f37fa176e8a512	@DISEASE$ (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and @PHENOTYPICFEATURE$.	false
+486b27e9bb6473cdb00e1ec28f60985ba7a521f1	To undertake an individual patient data (@DISEASE$) meta-analysis to assess the impact of exercise-based cardiac rehabilitation (ExCR) in patients with @PHENOTYPICFEATURE$ (HF) on mortality and hospitalisation, and differential effects of ExCR according to patient characteristics: age, sex, ethnicity, New York Heart Association functional class, ischaemic aetiology, ejection fraction, and exercise capacity.	false
+69c5c5ca7d4c4370814e5bdb460001c713d75185	Complications (n = 12, 24%) due to @DISEASE$ were seizures (n = 5), pleural effusion/empyema (n = 4), cerebral palsy (n = 2) and @PHENOTYPICFEATURE$ (n = 1).	false
+1d43b009bc1b168b65abadbdb82b9952d6dbcc7d	B-type natriuretic peptide-guided therapy for @PHENOTYPICFEATURE$ (HF): a systematic review and meta-analysis of individual participant data (@DISEASE$) and aggregate data.	false
+a97b09f6958a6a38b487461a0a0198efe18c7781	Irrespective of age, @PHENOTYPICFEATURE$, and daytime sleepiness, patients with untreated PLM or @DISEASE$ are more likely to experience clinically significant psychological difficulties than those with either OSA or PI.	false
+7c8058ce8a990465fb73754be6a53352f33be129	Sixty to 90% of patients with idiopathic Parkinson disease (@DISEASE$) developed early @PHENOTYPICFEATURE$ and subtle speech impairment, which is usually related to orofacial muscular dysfunctions.	false
+6315633c74efb1e39d8aa245bb224e6b812a49b8	This paper describes the rationale and design for an individual participant data (@DISEASE$) meta-analysis and a socioeconomic equity-specific reanalysis aiming to: (1) investigate socioeconomic differences in the effectiveness of interventions aimed at promoting healthy behaviour and preventing @PHENOTYPICFEATURE$, (2) examine socioeconomic differences in reach and compliance and (3) to investigate underlying factors affecting possible socioeconomic differences.	false
+cfc2e0a42da9141031ebe54561f2dc4a78d1ef87	In conclusion, cardiac @PHENOTYPICFEATURE$ is common and seems to occur independent of the clinical stage and symptoms in patients with @DISEASE$.	false
+1a99e503555ad44831c1fdea23321048785edb20	The change of interleukin-6 and @PHENOTYPICFEATURE$ necrosis factor in patients with @DISEASE$.	false
+269a1a8b24320a807d2aa7b6de7718cf1c5966fc	To evaluate the incidence and severity of @DISEASE$ (OSAS) in patients with @PHENOTYPICFEATURE$ having a Furlow palatoplasty or pharyngeal flap for correction of velopharyngeal insufficiency (VPI).	false
+48f7b212a220d7edeb2aec0e31273df6ed614b7c	Association of @PHENOTYPICFEATURE$ necrosis factor-? gene polymorphism (-308) and @DISEASE$-hypopnea syndrome.	false
+f86cc5270513f705e88af4ea1cca4633f210bde2	An updated meta-analysis of the association between @PHENOTYPICFEATURE$ necrosis factor-? -308G/A polymorphism and @DISEASE$-hypopnea syndrome.	false
+5adb747f90dd436c2750264c9c5619b71d9b2c2c	Association of osteopontin and @PHENOTYPICFEATURE$ necrosis factor-? levels with insulin resistance in obese patients with @DISEASE$.	false
+60cb6770e1eeb7fd587426f6d7823e7c2e699587	Although there are some case reports about @PHENOTYPICFEATURE$ originating from the uvula, this is the first reported to cause @DISEASE$.	false
+fb0cf049c440ba546c6c715dacf104f112f9b014	Inflammatory cytokines @PHENOTYPICFEATURE$ necrosis factor-?, interleukin-8 and sleep monitoring in patients with @DISEASE$.	false
+369c7fc00b530e94a57890fd9e48a19ca9c5dba1	Knowledge of the anatomy of soft palate muscles is of great interest in @PHENOTYPICFEATURE$ surgery, in surgical correction of @DISEASE$ and in excision of maxillo-facial carcinomas.	false
+e6b466769874a843e8e60eeb70e44b3e90aa17b6	@DISEASE$ caused by uncommon @PHENOTYPICFEATURE$ of the upper aerodigestive tract.	false
+2c30ed9cc4601a10ee525d00cc1e3651e7b9e82c	It is concluded that the @DISEASE$ may be a common finding in patients with @PHENOTYPICFEATURE$ in the pharyngeal region.	false
+a3ef3e2e5ac8dbec10b607b80c55dc7ebabb3a8a	@DISEASE$: Long-term survival, anatomic patterns of @PHENOTYPICFEATURE$, differential diagnosis and pathogenetic considerations.	false
+cee3b69bbd3e37c658aa79506fa63fad009d4033	@DISEASE$ (TARPS) is an X-linked syndromic condition including Robin sequence, @PHENOTYPICFEATURE$, developmental delay, feeding difficulties and talipes equinovarus, as major features.	false
+34c57b6f4ed217ce6b6f2696eb926610773d4dda	On comparing the prevalence of these factors between patients and the general population, a significant association was found between hypertension, hypercholesterolemia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f5054a05323f31ef7b48e3764ddf382a76d485b5	@DISEASE$ genes and phenotypes: Focus on FOXC1 mutations causing @PHENOTYPICFEATURE$ and hearing loss.	false
+37c38f4f67d218370268b20448ddf4761b176a6a	Although @DISEASE$ was not detected in this sample, increased vertical CDR is present in children with CZS, associated with @PHENOTYPICFEATURE$ and clinical macular lesions at birth.	false
+507e78800da6be769f82fc55d9d0ddebce929ba1	[Acquired angioneurotic @PHENOTYPICFEATURE$: association with @DISEASE$].	false
+190bb9716e1c474a140176a1d30c7492edb85571	Three had acidosis and @PHENOTYPICFEATURE$ neonatally; later, myoclonus and deafness, and eventually severe mental retardation and @DISEASE$ developed.	false
+60c77fce7a47675be1d9688fbdaf89b60f58b2ab	Conditions associated with an increased risk for UGI tract bleeding were hiatal hernia, reduced activity, incontinence, @PHENOTYPICFEATURE$, kyphoscoliosis, and @DISEASE$.	false
+7dc17aa78aec55f7b96b81308e9da15cefe7e26d	Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, @DISEASE$ with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness and @PHENOTYPICFEATURE$ with no eye fixation.	false
+f1072ed7a15f3946bfaf2442b1e574a974baef88	The decision to withdraw treatment from a particular infant had to be unanimous among all the medical and nursing staff caring for that child and was based on a virtual certainty, not just of handicap, but of total incapacity--eg, microcephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2683bb1deedd3aa2b472572218a254614eded8ee	profound mental retardation, @DISEASE$, ponto-cerebellar hypoplasia and progressive cerebral atrophy); (ii) @PHENOTYPICFEATURE$ and (iii) mild secondary mitochondrial myopathy detected by muscle biopsy and respiratory chain enzyme analysis.	false
+1fb704a36440a52b8cb76e019ceb9667755aaba5	She subsequently had global developmental delay, cortical visual @PHENOTYPICFEATURE$, @DISEASE$, epilepsy, and purpura fulminans at age 2 years.	false
+17d30b784cbbd61011708af2c8fb3a5b24fcf77a	Here we substantially extend and consolidate the symptomatology of WARS2 by presenting a patient with severe infantile-onset leukoencephalopathy, profound intellectual disability, @DISEASE$, epilepsy, microcephaly, @PHENOTYPICFEATURE$, failure to thrive, cerebral atrophy, and periventricular white matter abnormalities.	false
+f1ea789ca5da94d38364a2e1c3cae6e2968fcbba	They rapidly became demented, developed myoclonus or tonic-clonic seizures, @DISEASE$, deafness and @PHENOTYPICFEATURE$, and died.	false
+fc349ad2b0c4d985d3a77499d46ed2f61b40c873	A follow-up investigation of 73 cases of H. influenzae meningitis seen over a three-year period revealed: 2 deaths, 6 children with major sequellae (retardation, @DISEASE$, @PHENOTYPICFEATURE$, persistent seizure disorder), 10 with minor residua, and 55 with no detectable disability.	false
+ccf7d2a935948a737b3cc5b1befbfbe642d4b4a1	In 12-month-old girl with @DISEASE$, serial CT and MRI examinations showed characteristic findings, which were symmetric high densities in globus pallidus and thalami before and during the course of @PHENOTYPICFEATURE$ and decreased attenuation in white matter.	false
+10ed6144c6b9e87c5b25a4609267004cec0a24d4	To the abnormalities already described (branchial dysplasia, @PHENOTYPICFEATURE$, club feet, inguinal herniae) must be added a paucity of interlobular bile duts; the relationship between this new syndrome and the @DISEASE$ requires reconsideration.	false
+ef9846d804e0117259d02b16b0716e96f1c5fda5	@PHENOTYPICFEATURE$ syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, @DISEASE$, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work.	false
+59ff0723426547eb7f289a5192ab0c09f272ea96	In this report the authors describe an 8-year-old @PHENOTYPICFEATURE$ girl with facial features resembling the facial dysmorphism seen in patients with @DISEASE$, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts.	false
+b547850a14f135cf91fea62a95b1ef439ec8c260	We present three episodes of massive hemoptysis in two patients, the first with comorbid @DISEASE$ including multiple cardiac and pulmonary @PHENOTYPICFEATURE$ and the second with thyroid cancer metastatic to the mediastinum.	false
+6a2b7968ad67dbcc848193bdc2938107b2f8d84d	@DISEASE$ shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, @PHENOTYPICFEATURE$, type 1 diabetes mellitus, and cystic fibrosis.	false
+cfa517638e530d445e28e055beeebb2445d53cb2	Dysregulation of Notch signaling is associated with diseases affecting human skeletal development, such as @DISEASE$, @PHENOTYPICFEATURE$ and spondylocostal dysostosis.	false
+4f5555b2ab8b790930e368ec2285755a18aec76d	Herein, the authors describe an adult patient with @DISEASE$ who presented with multiple visceral @PHENOTYPICFEATURE$, including a high-grade stenosis of the celiac artery, superior mesenteric artery (SMA), aneurysms of the distal common hepatic artery, and distal SMA detected with computed tomographic angiography.	false
+b1e4bfe87585888d2675568278ddc104fa3440fc	@DISEASE$ is frequently associated with hyperlipidemia and @PHENOTYPICFEATURE$.	false
+a8209ca5539e7e855fb652f71f07c461770101ba	Intracranial @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+fdba130d18b0dd5f5c6635482035e9d3a1b33528	We describe the case of a 13-year-old boy with @DISEASE$ in whom intracranial imaging was performed following a @PHENOTYPICFEATURE$.	false
+856c8bb8e82b407657299c637ec10152b9f480e4	@DISEASE$ is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without @PHENOTYPICFEATURE$ or visceral organomegaly.	false
+612d52c4d97df5fa051c959be6964dc5f9daaae5	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is the most common idiopathic @DISEASE$ syndrome.	false
+8001f41bcf52974c48e392614f1268a38c350e34	We presume that she had an undiagnosed @DISEASE$ syndrome, likely juvenile @PHENOTYPICFEATURE$ epilepsy.	false
+50017f0154ef61b7299d31a60085ba48cafd7e40	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is a distinct form of idiopathic @DISEASE$ (IGE).	false
+948394cb972fa7c3b9af3180f909753368f9f1ea	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is recognized as a commonly occurring form of idiopathic @DISEASE$.	false
+99e43035e71ec405452282a129f0d2b7c81bb4c5	Juvenile @PHENOTYPICFEATURE$ epilepsy is a heritable idiopathic @DISEASE$ syndrome, characterized by myoclonic jerks and frequently triggered by cognitive effort.	false
+6ce42ca52a182728d2c72150a1fa9590f0cb1c15	Juvenile myoclonic epilepsy is a heritable idiopathic @DISEASE$ syndrome, characterized by @PHENOTYPICFEATURE$ and frequently triggered by cognitive effort.	false
+216c57e50bb53a62aeb77da3d09a6b25c2f3cbc4	Juvenile @PHENOTYPICFEATURE$ epilepsy is the most common genetic @DISEASE$ syndrome, characterized by a complex polygenetic aetiology.	false
+5411de5079f635d44a230f5ae52740ec6f6d8013	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is a genetically determined common subtype of idiopathic @DISEASE$.	false
+a427f971c68dd0ee0e3d3cffe173cc11c4499638	Juvenile @PHENOTYPICFEATURE$ epilepsy is the most frequent idiopathic @DISEASE$ syndrome.	false
+ea602f33b270f90968ca1477b90da766872c66d4	Juvenile @PHENOTYPICFEATURE$ epilepsy (JME) is a genetic @DISEASE$ syndrome.	false
+b435e48bc67ea64fd9fceaff894e317da4274590	Juvenile myoclonic epilepsy is the most common idiopathic @DISEASE$, characterized by frequent @PHENOTYPICFEATURE$, generalized tonic-clonic seizures and, less commonly, absences.	false
+88b1be9ca7d1ad7d8d4dd19b3afdf702d65fa79c	Juvenile @PHENOTYPICFEATURE$ epilepsy is the most common idiopathic @DISEASE$, characterized by frequent myoclonic jerks, generalized tonic-clonic seizures and, less commonly, absences.	false
+9f7b47b6aa5a43a8dd48f873528ebe9c26b277ab	Accordingly, lower @PHENOTYPICFEATURE$ scores were observed for combined PVB with GA compared with GA alone for <2 h (@DISEASE$.87; 95% CI: -2.53 to -1.21; P<0.00001), 2-24 h (MD: -2.21; 95% CI: -3.07 to -1.35; P<0.00001), and 24-48 h (MD: -1.80; 95% CI: -2.92 to 0.68; P=0.002).	false
+adc8aa942763fb30bd76a86522982b2844330cf0	Accordingly, lower @PHENOTYPICFEATURE$ scores were observed for combined PVB with GA compared with GA alone for <2 h (MD: -1.87; 95% CI: -2.53 to -1.21; P<0.00001), 2-24 h (MD: -2.21; 95% CI: -3.07 to -1.35; P<0.00001), and 24-48 h (@DISEASE$.80; 95% CI: -2.92 to 0.68; P=0.002).	false
+b4f6ff170268e185b35ccf204968fce5f15c7e5a	In particular, myotonic dystrophy (Curschmann-@DISEASE$), also characterized by the presence of @PHENOTYPICFEATURE$ and a pathognomic star-shaped cataract, should be taken into account since a reticular dystrophy of the retinal pigment epithelium could be observed, resulting in a visual impairment of various degrees.	false
+79e758dfe6c8951bafc8f615bd4d08ab7b3a151a	This article presents a patient with @DISEASE$ who had facial dysmorphism, hypotonia, @PHENOTYPICFEATURE$, feeding and respiratory difficulties in the neonatal period and later presented to us with developmental delay and had percussion myotonia.	false
+e3b5edb7716289d06dabefae6c94604ea954d4c1	The IAC length was not different between ears with and without FD (MD, -0.37; 95% CI, -0.95 to 0.211); however, canals were elongated in ears with @PHENOTYPICFEATURE$ (@DISEASE$.33; 95% CI, -2.60 to -0.07).	false
+1c7ac1d4199d95b8be94dfbabcf1c8c50d646e27	Cranial magnetic resonance imaging (MRI) in 19 German patients with genetically proven @DISEASE$ (DM1, n = 10) or Type 2 (DM2, n = 9) showed pathological findings consisting of white matter lesions (WML) and/or @PHENOTYPICFEATURE$ in 9/10 DM1 and 8/9 DM2 patients.	false
+c838cf24021fb3ad21008c73a351f45afd82a7af	The major clinical features of @DISEASE$ are bilateral facial weakness, hypotonia, neonatal distress, feeding difficulties, @PHENOTYPICFEATURE$, tent-shaped mouth, mental retardation and delayed motor development.	false
+dbd33c8807ff7e96ab39ab8deaaae48d950416db	Regional @PHENOTYPICFEATURE$ in gray and white matter is associated with cognitive impairment in @DISEASE$.	false
+2536ff70ab694d72ade9e6ebfb7ac19319243256	The physical examination demonstrated cup-shaped ears, a broad nasal root, @PHENOTYPICFEATURE$, mid-facial hypoplasia, coarse hair, and @DISEASE$.	false
+61cdc411d0a4669f350cc04e0fec9a042183f001	Red lunulae are associated with rheumatoid arthritis, systemic lupus erythematosus, alopecia areata, @PHENOTYPICFEATURE$, hepatic cirrhosis, lymphogranuloma venereum, psoriasis, carbon monoxide poisoning, @DISEASE$, and reticulosarcoma.	false
+1f5ec5b71964afc1fdc7e1c7106cbb32f4973449	@DISEASE$ is one of the common @PHENOTYPICFEATURE$ in adults.	false
+cad2b685650b07055f773636e9cf9fc3f3442b33	A 71-year-old male presented with an isolated well-enhanced sellar lesion accompanied by hypopituitarism, diagnosed preoperatively as a pituitary adenoma, @DISEASE$, or metastatic @PHENOTYPICFEATURE$.	false
+31a857e796ed5780dd3c9c0fd175a775e1d5949a	The effect of mobile phones on the risk of developing @PHENOTYPICFEATURE$ has not been established for glioma and @DISEASE$ in adults, but the link with acoustic neurinoma is becoming robust.	false
+d708997704ab1fbef6c242a8f6bbcf4dc42cae20	Bilateral @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+8af0c31bc4e31a9638fe1c0a68d5130b8c9dcb0d	[Unilateral simple @PHENOTYPICFEATURE$ in a case of @DISEASE$ situated near the sella turcia].	false
+0e1ff11b3aa7780c3b32a70b5c2f408669c8dde6	The triad of long-standing poor vision, acquired optociliary shunts, and @PHENOTYPICFEATURE$ with blurred disc margins should not be regarded as specific for spheno-orbital @DISEASE$.	false
+8d2450596ac3c3c2c23e53aed4c1ea3c32516b31	The causes subsequently determined included coincident horizontal canal positional vertigo (2 cases), M?ni?re's disease (2 cases), persistent posterior canal benign paroxysmal positional @PHENOTYPICFEATURE$ in association with cervical spondylosis (2 cases), and a posterior fossa @DISEASE$ (1 case).	false
+609f5378567386aaf94b971a05cb60a9558d6a17	The causes subsequently determined included coincident horizontal canal positional @PHENOTYPICFEATURE$ (2 cases), M?ni?re's disease (2 cases), persistent posterior canal benign paroxysmal positional vertigo in association with cervical spondylosis (2 cases), and a posterior fossa @DISEASE$ (1 case).	false
+46fd61673ddb9957c4a85e37c7246fb2c93daca5	Of the 18 patients with abnormal imaging (e.g., @DISEASE$, pituitary adenoma, craniopharyngioma) studies, 11 had bilateral and 7 had unilateral @PHENOTYPICFEATURE$.	false
+0ed45593580a7faf7f86b97865fe58d220200da6	A 45-year-old woman with long-term unilateral ear problems, hearing loss, @PHENOTYPICFEATURE$ and tinnitus was diagnosed with a @DISEASE$ in the middle ear.	false
+8b35eddb43a2be5d298675c38152c77accb3ae69	The morbidity rate of @PHENOTYPICFEATURE$ is 59.5% in patients with pituitary adenoma, 65.5% of craniopharyngioma and 44.1% of @DISEASE$.	false
+52ea83d144acaa0307363256ab627323f8316c01	Because @DISEASE$ (FL) patients have @PHENOTYPICFEATURE$ outcomes, the FL international prognostic index (FLIPI) was developed to risk-stratify patients and to predict survival.	false
+d542ff90d4d1dc47b008160a98a4177a41ecb2e2	Nocturia, a common and bothersome symptom of @DISEASE$ (BPH), may cause @PHENOTYPICFEATURE$.	false
+8acdf8e5407e319fbdbf66787a915d985b8192d6	The objective of this study was to examine the association between @DISEASE$ (BPH), a common disorder causing nocturia and @PHENOTYPICFEATURE$, and risk of ALS and other motor neuron disease (MND).	false
+76d86558585f4327d049558a82dee7ce01707921	The drugs include: Oxytrol (for urinary incontinence), Valtrex (for reducing the risk of heterosexual transmission of genital herpes), Femring (for vaginal delivery of hormone therapy), Uroxatral (for @DISEASE$), Levitra (for erectile dysfunction), Flumist (for preventing influenza), Xolair (for asthma), Raptiva (for psoriasis), Cubicin (for @PHENOTYPICFEATURE$), Crestor (for hypercholesterolemia), and Coreg (for severe heart failure).	false
+77f94287b45aeafb9eadc6d3be1ea04fa99ab021	We recently reported an association between the bother and severity of lower urinary tract symptoms secondary to @DISEASE$ and the severity of @PHENOTYPICFEATURE$.	false
+d3d2115380bd9b41e34b874817f2a48bf2cd1ac0	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ are the most common nonskeletal findings.	false
+a374233b14246f942e7cbae63ed2879c0621b818	We report a 30-year-old woman with @PHENOTYPICFEATURE$, ptosis, and @DISEASE$ associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia.	false
+bbaedb1d18c5328599bee3eb7463a6bd4692b69b	We report a 30-year-old woman with hypertelorism, ptosis, and @DISEASE$ associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental @PHENOTYPICFEATURE$ deficiency, ectodermal defects, and osteopenia.	false
+27c7201a70b9d139f1750f91453c989af86bc740	The ocular findings in one patient with 46, XX, del 18 (q21) consisted of @PHENOTYPICFEATURE$, epicanthus, strabismus, @DISEASE$, microphthalmia, microcornea, corneal opacities, iris hypoplasia with full thickness defects, corectopia and large peripapillary staphylomata.	false
+c70e96fe84fa8edf670b5dc056423ca166d1f94c	The ocular findings in one patient with 46, XX, del 18 (q21) consisted of hypertelorism, epicanthus, strabismus, @DISEASE$, microphthalmia, microcornea, @PHENOTYPICFEATURE$, iris hypoplasia with full thickness defects, corectopia and large peripapillary staphylomata.	false
+ab17d7d4cd9f9e1be4381c39bbff73e5cd88f4db	Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major hypertelorism with bulging eyes), high grade @DISEASE$, @PHENOTYPICFEATURE$ and low molecular weight proteinuria.	false
+e0e86ea86b9d4fad56049fdcbea4725ecd0e95d2	Donnai-Barrow syndrome (DBS; MIM 222448) is characterized by typical craniofacial anomalies (major @PHENOTYPICFEATURE$ with bulging eyes), high grade @DISEASE$, deafness and low molecular weight proteinuria.	false
+87595fc7effecb8e6c4cc7fe3ddafbbc0d38a84e	@PHENOTYPICFEATURE$ and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high @DISEASE$.	false
+0cbd42ba14b1ff224ff25152325327669f3ec815	Deafness and @DISEASE$ syndrome is characterized by moderate-profound, bilateral, congenital or prelingual @PHENOTYPICFEATURE$ and high myopia.	false
+c5686fedc07c127f77e8235615dd875fa6f42194	@PHENOTYPICFEATURE$ and @DISEASE$ syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia.	false
+93a1626604f6159ee35b67f6e10ee33ede429473	Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual @PHENOTYPICFEATURE$ and high @DISEASE$.	false
+c6e5073246343ddd39b734e73862bf90c958277f	In addition, profound mental retardation, @DISEASE$, muscular hypotonia as well as genital and @PHENOTYPICFEATURE$ are also present.	false
+441936202eabea06d39bfff91ea62eda278c5115	The patient had @PHENOTYPICFEATURE$, exotropia, and high @DISEASE$.	false
+6adf034a251597aeddf79ec231e01b4c0ecb8a9d	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ are the most characteristic non-skeletal features.	false
+8fe2002d2dda4d082710fe79c6505105033d65b7	The first symptoms of immunooseous dysplasia were @PHENOTYPICFEATURE$ and @DISEASE$.	false
+65026a297e0f060ad19d6c7ae4fd483a2a40fcda	Associated defects include: growth retardation, microcephaly, strabismus, bilateral epicanthus, @DISEASE$, @PHENOTYPICFEATURE$ and abnormalities of external ear.	false
+4038d5b02d109894a7fc6db104caabe938abf9b0	Associated defects include: @PHENOTYPICFEATURE$, microcephaly, strabismus, bilateral epicanthus, @DISEASE$, hypertelorism and abnormalities of external ear.	false
+625ea8986093baeaacbd7813e45851b932b7af91	The @DISEASE$ occasionally brings about impaired growth and @PHENOTYPICFEATURE$ as well as rheumatoid complaints.	false
+0fdfb37e22ab895d50cf0d7f93445117b0870536	The Richards-Rundle syndrome (@DISEASE$) is characterized by hearing loss, @PHENOTYPICFEATURE$, ataxia, primary hypogonadism and autosomal recessive transmission.	false
+d8e7e5ad5e036a299df4801f32254f00b73f1604	The Richards-Rundle syndrome (@DISEASE$) is characterized by hearing loss, mental deterioration, @PHENOTYPICFEATURE$, primary hypogonadism and autosomal recessive transmission.	false
+53241554501d112aa4db548ab3a4bfb19809da97	Kabuki makeup syndrome (@DISEASE$), also known as Niikawa-Kuroki syndrome, is a dysmorphic disorder of unknown etiology, characterized by unusual facies, large protruding ears, postnatal @PHENOTYPICFEATURE$, and mental retardation.	false
+3f7afe30eea63eb6f8688b9bd9d25139bbd4ad71	Kabuki makeup syndrome (KMS), also known as @DISEASE$, is a dysmorphic disorder of unknown etiology, characterized by unusual facies, large protruding ears, postnatal @PHENOTYPICFEATURE$, and mental retardation.	false
+167327459712174d5a0738d71fd5ae7bc8e38bbd	@DISEASE$ is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal @PHENOTYPICFEATURE$ and mental retardation.	false
+528d3f408f278475c63d2a8173f5030cad07e6d4	@DISEASE$ is a rare congenital disorder characterized by mental retardation, postnatal @PHENOTYPICFEATURE$, visceral anomalies, and peculiar facies (resembling the makeup of actors in Kabuki, traditional Japanese theater) initially described in Japan.	false
+4229166c9430c25a74ffcf034e5cf5676d3446f4	Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, @PHENOTYPICFEATURE$ and hypogammaglobulinemia A in @DISEASE$: a rare combination.	false
+9bae4cb37e3b3b38391ce9e49b994cdcf094db08	Fistulae, small bowel obstruction (SBO), and malabsorption are complications of intra-abdominal desmoid (@DISEASE$) @PHENOTYPICFEATURE$ that require home parenteral nutrition (HPN).	false
+883b3d72fa6845e644fb0ee5eb26d6d21372f4fa	Five @DISEASE$ @PHENOTYPICFEATURE$ involved the bowel, six caused ureteric compression and none compromised the proximal superior mesenteric artery.	false
+c78f2ad1fbcdc5e42a7e0d069d2387d031608e73	These data indicate that the ectopic ACTH expression in the @PHENOTYPICFEATURE$ evoked the autoimmunity to corticotrophs and caused @DISEASE$ as a form of paraneoplastic syndrome.	false
+2fc216ce60607de7baf912616d947cffc3296978	Isolated ACTH deficiency (@DISEASE$) is a rare cause of neonatal @PHENOTYPICFEATURE$ and hypoglycaemia.	false
+d7ef7631b5edb96e2c203257c643b46ac7516873	For local aggressive prostate cancer, @DISEASE$ can effectively slow down @PHENOTYPICFEATURE$ progression, reduce adverse events and improve patients' quality of life.	false
+538b4a0e7a8f9dc31ab96e8b77ff7f2adde8cb9c	In initial pilot studies, the @DISEASE$ concept proved less successful in patients with a high @PHENOTYPICFEATURE$ burden than in those with locally advanced prostatic cancer.	false
+5fd9f3f9961cf731674c54a7dfead3b264cd8862	MRI identified 23 desmoid tumours in 9 patients: 9 intra-abdominal desmoid (@DISEASE$) tumours, 10 abdominal wall desmoid (AWD) tumours and 4 extra-abdominal desmoid (EAD) @PHENOTYPICFEATURE$.	false
+c1bd8509363b39fd73e573813984314508258b83	MRI identified 23 desmoid tumours in 9 patients: 9 intra-abdominal desmoid (@DISEASE$) tumours, 10 abdominal wall desmoid (AWD) @PHENOTYPICFEATURE$ and 4 extra-abdominal desmoid (EAD) tumours.	false
+08a4c7dd631b488de37d200219fdc467b881e123	MRI identified 23 desmoid tumours in 9 patients: 9 intra-abdominal desmoid (@DISEASE$) @PHENOTYPICFEATURE$, 10 abdominal wall desmoid (AWD) tumours and 4 extra-abdominal desmoid (EAD) tumours.	false
+31f37b401e09a6bbc5c2a83cd3ff4be04b5aada4	HPN outcomes in patients with @DISEASE$ @PHENOTYPICFEATURE$ have not been previously reported.	false
+ea757e47d6e89002959ae7e340e46d587b7b7023	In our own pilot study, patients with a low @PHENOTYPICFEATURE$ burden could be successfully treated with @DISEASE$.	false
+763626731f348ff2fc28f9cab1309469077ef330	However, IRF-4 @PHENOTYPICFEATURE$ suppressor activity is lost in IRF association domain (@DISEASE$) deletion mutants.	false
+102e0eb9498e96e73d20aeea9b5d72185fef40e0	ARG1 deficiency leads to @DISEASE$, characterized by progressive neurological impairment, persistent @PHENOTYPICFEATURE$ and infrequent episodes of hyperammonemia.	false
+19b76401d4fd45c4225ac63ec40dc15fc9c17feb	Human @DISEASE$ is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and @PHENOTYPICFEATURE$; uncommonly, patients suffer early death from this disorder.	false
+b9cec933c1da0f9b39705409f7bceb950b3d29c3	Human arginase deficiency is characterized by @DISEASE$ and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and @PHENOTYPICFEATURE$; uncommonly, patients suffer early death from this disorder.	false
+6d8ab268eb087ea3f04681967531314bd416b0b7	ARG1-deficient patients exhibit @DISEASE$ with spastic paraparesis, progressive neurological and intellectual impairment, persistent @PHENOTYPICFEATURE$, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders.	false
+d5ba7094239f9cbf001bba6e0b85b7a714fb2524	Deficiency of liver arginase (AI) causes @DISEASE$ (OMIM 207800), a disorder characterized by progressive mental impairment, @PHENOTYPICFEATURE$, and spasticity and punctuated by sometimes fatal episodes of hyperammonemia.	false
+b610949822cb8488dbe51df6bdf55cd6a613a802	Human @DISEASE$ is characterized by hyperargininemia and infrequent episodes of hyperammonemia that cause neurological impairment and @PHENOTYPICFEATURE$.	false
+5148ea153a5888e6cd372eba09084d178851c9ec	Human arginase deficiency is characterized by @DISEASE$ and infrequent episodes of hyperammonemia that cause neurological impairment and @PHENOTYPICFEATURE$.	false
+f07c859862fc01fa1e6cb0bad7d7f2e07252954b	Patients generally develop @DISEASE$, spastic paraparesis, progressive neurological and intellectual impairment, and persistent @PHENOTYPICFEATURE$.	false
+f89666a05250042b7ab6e087a4c355a168428f55	A 5 9/12-year-old Mexican female with @DISEASE$ presented at 4 years of age with severe @PHENOTYPICFEATURE$, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram.	false
+63f2b472cc36081980c3061e4e5e8d6e63247c8f	Deficiency of liver arginase (AI) is characterized clinically by @DISEASE$, progressive mental impairment, @PHENOTYPICFEATURE$, spasticity, and periodic episodes of hyperammonemia.	false
+7122caff1d9a0274d59a43c93c5019fb4dae9558	We studied a family with dominantly @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6fdf91c2bd9cf4e454cf551ce33de254d53d3b64	The pattern of significant differences in FCAS scores among groups of normals, those with mild @PHENOTYPICFEATURE$, and early-stage Alzheimer disease cases suggests that the cognitive activities tapped by the @DISEASE$ are affected throughout disease progression in the same way as the neuropsychological performance measures.	false
+e0ac5638fb989ddad8b460bfdf52df4010605bff	@PHENOTYPICFEATURE$, macrosomia, and cutaneous telangiectasia in @DISEASE$.	false
+ea5ad7836c75023474c812f8b4a9b2c52e6b6c5c	The degree of @PHENOTYPICFEATURE$ seemed to develop according to the age of the patients, as could be seen from the patients with mucopolysaccharidosis III, metachromatic leucodystrophy and @DISEASE$.	false
+3c5e80db984370cefe569d589b6760d65ad7e373	When CRLM resections are received post neoadjuvant, the pathologist needs to not only report margin status but also report details regarding the @PHENOTYPICFEATURE$'s response to treatment, and should evaluate the nonneoplastic parenchyma for chemotherapy-related injury, such as @DISEASE$ and/or steatohepatitis that may be caused by treatment.	false
+458f6a87b0463817e4a86cee32faa0bf9a808a70	Response to 'Comment on 'The potential contribution of @PHENOTYPICFEATURE$-related factors to the development of FOLFOX-induced @DISEASE$''.	false
+78db25df18d5f64d365a1ac85b6cd24bf5cb356e	Bilateral occipital calcifications, occurring in @DISEASE$, are factors coming under a particular cerebral syndrome, which also includes epilepsy, migraine-like headache, visual troubles and @PHENOTYPICFEATURE$.	false
+30afba151aef238d7e7ea3516bdc46d9ee391223	We now compare duodenal biopsies in 25 children with regressive autism to 11 with @DISEASE$, five with cerebral palsy and @PHENOTYPICFEATURE$ and 18 histologically normal controls.	false
+e9c662ec39005891cd111b34753f26098e00b4e4	A case of variegate porphyria in association with @DISEASE$ and bisphosphonate associated dental @PHENOTYPICFEATURE$.	false
+1e9b7efd783c69a3ad2c194188225c8edb419927	@DISEASE$ is a rare multisystem disorder with cutaneous, ocular, dental and @PHENOTYPICFEATURE$.	false
+589eb162932b91bf0e745d503cf8e364a7ca8452	@DISEASE$ (FDH) is a rare multisystem condition in which developmental defects of the skin are associated with ocular, dental and @PHENOTYPICFEATURE$.	false
+fa2f73c40d1572057cd5026678fa3fea0063c002	Early recognition of the dermatologic features, in addition to the variable but universal @PHENOTYPICFEATURE$, of @DISEASE$ will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.	false
+f718714646007cb593fd1ca2d2b74ecadccb5767	We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, @PHENOTYPICFEATURE$, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of @DISEASE$.	false
+866da2d309da0790191a08c743109144455f0777	The present case is a 5 year old girl having linear skin atrophy with fat herniation, @PHENOTYPICFEATURE$ in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with @DISEASE$.	false
+4ffad7b91298afc321aa8c93c3cb69546adb85fb	Motivated by the diagnosis and treatment of two cases of nevoid or @DISEASE$, we have taken a brief look at the literature and present these two cases, which display the four principal features defining this syndrome: multiple basal cell carcinomas, maxillary cysts, @PHENOTYPICFEATURE$, and ectopic calcifications.	false
+150e542b865bae56e434015aee9d3bd1f5022b71	We report on a baby girl with multiple malformations, including @DISEASE$, characteristic facial features, @PHENOTYPICFEATURE$ and split sternum.	false
+6143efb9d4fc2b97a7820de7de2f148692313125	We describe a 13-year-old girl who has typical cutaneous lesions which have been present since birth; she also has some of the associated dental, nail and @PHENOTYPICFEATURE$, while an X-ray of the long bones osteopathia striata is visible, a feature seen in a high proportion of cases of @DISEASE$.	false
+3841b46c7882c47115a66949c932fa61a8200f11	@DISEASE$ (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and @PHENOTYPICFEATURE$ due to dysplasia of mesoectodermal derived tissues.	false
+addcd4cab2b10a3743f5bd3723faf08154487bed	Focal Dermal Hypoplasia (FDH) or @DISEASE$ is a rare multi-system disorder with cutaneous, ocular, dental, and @PHENOTYPICFEATURE$ due to dysplasia of mesoectodermal derived tissues.	false
+b877c8a77b3cb3544f9cb9be5a92bb6b0b1e54a4	These cases exhibited @DISEASE$ (FDH) manifestations including skin, dental and @PHENOTYPICFEATURE$.	false
+47b973391bfa21af35324116e04ec50db6a750d2	@DISEASE$ (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, @PHENOTYPICFEATURE$ and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.	false
+611cc59fe8d9db2741a70ffa4589d26ddff779ed	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, @DISEASE$ (Short stature, Onychodysplasia, @PHENOTYPICFEATURE$, and hypoTrichosis).	false
+7d7ad64221b619ff2f43ad2b176a70351c21a743	Our findings confirm that POC1A mutations cause @DISEASE$ and that mutations in this gene should be considered in patients with severe pre- and postnatal @PHENOTYPICFEATURE$, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges.	false
+d5da79b15253e4d649919b213cfe74d798eac414	Taken together, our quantitative proteomic analysis detected the molecular triad, NPM1, GRP78 and RKIP participating together with @DISEASE$ and HSP27/HSPB1 in a network related to @PHENOTYPICFEATURE$ progression.	false
+0bf90434b28462987f852527f5e2498507d2f2e8	In the @DISEASE$-@PHENOTYPICFEATURE$-test Iso-PTX (12) shows a moderate activity against some leukemia and lung cancer cell lines.	false
+34a39a101f0e1f25245b6a0b9667988286d5d917	Four males, the sons of 2 sisters, apparently have a new syndrome of @PHENOTYPICFEATURE$, seizures and @DISEASE$.	false
+afd84843950b8b7fef4b1f37cd74e66004c4f8d2	Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+537eb0cabc167836ab2ecf624aa5e1de44c7c70e	Significant side effects, besides the anticipated flu-like syndrome experienced by all the patients, included single instances of @PHENOTYPICFEATURE$, psychosis, @DISEASE$, and hyperthyroidism.	false
+c3365d7457e65ad8e93d22341d13d958884e1551	We report a @DISEASE$ patient who presented with progressive neurologic dysfunction and @PHENOTYPICFEATURE$ after 2.5 years of fumarate therapy.	false
+ef3d91215dbed9c8ad955aa40dc210c5be384793	Characteristic ultrasound pictures can be seen in @DISEASE$, cysts, @PHENOTYPICFEATURE$,and other nail diseases.	false
+10b9c54390e22884207634c1df8914fe96980a43	X-linked @PHENOTYPICFEATURE$ associated with @DISEASE$: a new syndrome?	false
+e61639ed5a338f366d2b28143b70681e68e96dcc	We describe an additional case, a 7-year-old boy with profound @PHENOTYPICFEATURE$ microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, @DISEASE$ vulgaris and tracheo-esophageal fistula.	false
+393125f77ed827b71a9c4326bcfc4d28c8fc6ecc	arthritis, lupus, @DISEASE$), but is only beginning to be demystified in autoimmune demyelination, the most common cause of neurological @PHENOTYPICFEATURE$ in young adults.	false
+a6c616dec5647a085964344dfdae6437b15f8ea2	The second case was a 14-year-old white girl with a history of @DISEASE$ vulgaris from the age of five years onwards, and antecedents of @PHENOTYPICFEATURE$.	false
+7a248aaa71160d0f56e33c6c6ae921fe7871553c	Clinical manifestations may be grouped into 5 types 1) tetany; 2) @PHENOTYPICFEATURE$; 3) other neurologic disorders (basal ganglia calcification, pseudotumor of the brain, ataxia, nystagmus, hypertonus, paresis); 4) disorders of the lens including fully developed cataracts and 5) skin alterations like @DISEASE$ and others.	false
+36a117e9da7747bfd928c7e72ff7bf63c5427c24	Clinical manifestations may be grouped into 5 types 1) tetany; 2) seizures; 3) other neurologic disorders (basal ganglia calcification, pseudotumor of the brain, @PHENOTYPICFEATURE$, nystagmus, hypertonus, paresis); 4) disorders of the lens including fully developed cataracts and 5) skin alterations like @DISEASE$ and others.	false
+4e5461b1f17b3222efa7b5f47810584e31d8b166	Three patients suffered from "primary" gout; classification of the other two patients was difficlut because of associated @PHENOTYPICFEATURE$, hypothyroidism and @DISEASE$.	false
+2ca8f45554e5dbd1efbd8eee1ffdab4023bc21e5	This report contributes to expand the knowledge of the clinical features of @DISEASE$ and highlights the need to search for @PHENOTYPICFEATURE$ and suspect this condition in the presence of a prominent, elongated coccyx.	false
+1482844d9ae691c808157cc461bdb9f46b82b15a	We conclude that episodes of acute, severe @PHENOTYPICFEATURE$ are common in hereditary @DISEASE$ and resemble the crises of the neuropathic porphyrias.	false
+e3bbfc2ebee2042e37a5bcf87f0beea8fbabfcfd	@DISEASE$ II has mental retardation, @PHENOTYPICFEATURE$ and corneal ulcers.	false
+8b709e52f2fd15fb8f4569a979e8fa21768d9cb5	Hereditary @DISEASE$ type 1(HT1) is a chronic disorder leading to severe hepatic, renal and @PHENOTYPICFEATURE$ if left untreated.	false
+a33a046ba7f3cf839a19387b51b21ae92dcfec4c	Chronic adrenal failure and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+028ca7afbff986c6518234feb4c55d2cdaedd9d6	The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined @PHENOTYPICFEATURE$, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, @DISEASE$, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, obesity, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs.	false
+ede0f991c113ed69fb4715a975df9a97aa738a03	The apoptosis ratio of @PHENOTYPICFEATURE$ cells was measured with flow cytometry (@DISEASE$).	false
+8c357dffc015d3dd7b3d7d9ebf7250c877308cb5	Fibrocartilaginous mesenchymoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$ that primarily affects the long bones.	false
+1c5123aca345f94cf403988b067240d445ea9399	In this study fluorescence IA was compared with @DISEASE$ data in a series of Wilms' @PHENOTYPICFEATURE$ touch preparations.	false
+db871755a866ce60604fb3c68e9bd7687fd6d6eb	Aliquots of the same solid @PHENOTYPICFEATURE$ samples were analyzed by flow cytometry (@DISEASE$).	false
+77e5ccfffa5e3408b2ec9b8e72f1c1f688e64ddd	Heterogeneity of @PHENOTYPICFEATURE$ grade and DNA ploidy (@DISEASE$) was 54% and 50%.	false
+425c4a63fcf97568b5877b3a9751133526a3dfdc	In 829 of the 2024 @PHENOTYPICFEATURE$ nodules the results of ICM and @DISEASE$ could be compared.	false
+897784711878e10475008824947eb78da0a5a57c	When analyzed by flow cytometry (@DISEASE$) these @PHENOTYPICFEATURE$ were shown to contain diploid stemlines.	false
+8459f733a8e526608e665e014c40b60b3ecb5b41	In several cases, irrigation @DISEASE$ disclosed @PHENOTYPICFEATURE$ stemlines that were not identified in biopsy specimens.	false
+03d4e267e7f1b1b08368494cf2e8b29cc87370ee	Eighteen of 30 @DISEASE$ diploid range @PHENOTYPICFEATURE$ were aneuploid by ICM.	false
+224a02d18890900cc6ef5c6846e5983cb5f982ba	Nineteen of 22 @DISEASE$ tetraploid range @PHENOTYPICFEATURE$ were ICM aneuploid.	false
+41047cbb778ab25bed0548c78fe05b373925cc5f	Adult polyglucosan body disease (APBD) is an autosomal recessive @DISEASE$ characterized by neurogenic bladder, progressive spastic gait, and @PHENOTYPICFEATURE$.	false
+5c933060e9d3a303db34d8dd23b6655bb4c32b55	The patient presented psychomotor regression, late-onset @DISEASE$, @PHENOTYPICFEATURE$, hearing impairment, a renal cyst, and renal hypertension and survived until the age of 36.	false
+ad57ca0e0b3386bd52b05578c99f57687d6e31b1	We describe an unique patient presenting with severe @DISEASE$ compatible with Pelizaeus-Merzbacher disease and @PHENOTYPICFEATURE$ consistent with Charcot-Marie-Tooth disease type 1 in addition to Waardenburg-Hirschsprung syndrome.	false
+45d44ec94b51f72c8a60aa094ccd83ac78edb08c	The patients' mother had only subclinical @PHENOTYPICFEATURE$, but the maternal grandmother had adult-onset @DISEASE$.	false
+9e233fd7d9f533e9e765dfc82d0fc451b0d2ef6e	Varying combinations of @DISEASE$, myeloneuropathy, @PHENOTYPICFEATURE$, and primary Addison disease were identified in 14 members of four generations of a kindred of 49 persons.	false
+59823b12db70a7b9adfc8d2d3d6f3c376093e284	We aimed at reaching a molecular diagnosis in Ashkenazi-Jewish patients who suffered from developmental regression at 6-13?months, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5a022eafbb27962a0d8a79ebf34aea0824aabbc4	@PHENOTYPICFEATURE$ in a child with Cree @DISEASE$.	false
+e41a74932c6556610931e84aea00756906ea5e41	Mutations of PLP1/DM20 cause Pelizaeus-Merzbacher Disease (PMD), a @DISEASE$, and in some instances, a @PHENOTYPICFEATURE$.	false
+0d7b2dd5a7d2274c66f6332df554ff5c0bd86f21	Two brothers with a @DISEASE$, progressive spastic diplegia, and @PHENOTYPICFEATURE$ were found to have proteinaceous aggregates in the peripheral nerve myelin sheath.	false
+a9e96963bff4c4fda52eadaf194247a82ad9c6b5	In the nervous system, their abnormal expression causes several neurodegenerative diseases such as @PHENOTYPICFEATURE$, @DISEASE$ and lissencephaly.	false
+a267f4bb111a9f1042de8275bf62c937643a8bd0	Cognitive defects have been reported @DISEASE$ with possible correlation to recurrent episodes of @PHENOTYPICFEATURE$.	false
+86de470e494ae714566c08595488e468e390ed9f	Mild (self-treated) and severe (requiring help) @PHENOTYPICFEATURE$ episodes are more common @DISEASE$ but people with insulin-treated type 2 diabetes mellitus are also exposed to frequent hypoglycaemic events, many of which occur during sleep.	false
+eb407486d948dd9abc6bc24b529f7cc69d781b8a	The DiasNet simulation tool is based on accepted principles of physiology and simulates blood glucose concentrations accurately @DISEASE$ (T1DM) patients during periods without hypoglycemia, but deviations appear after @PHENOTYPICFEATURE$, possibly because of the long-term glucose counter-regulation to hypoglycemia.	false
+06c3b44cf369d763d1ea77b506d9a846c8f32b87	Effect of hypoxia on heart rate variability and baroreflex sensitivity during @PHENOTYPICFEATURE$ @DISEASE$.	false
+13602602a75ca1afd64d14a51034a30a142994d3	An inborn @DISEASE$ of purine metabolism, deafness and @PHENOTYPICFEATURE$.	false
+f6503885fd0a8f976851785de2257b492e258643	Children with inborn @DISEASE$ of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit cognitive deficits and @PHENOTYPICFEATURE$.	false
+76da5aba5fc6428040f802f134871bad75a65792	The Environmental Rating Scale (@DISEASE$): a measure of the quality of the residential environment for adults with @PHENOTYPICFEATURE$.	false
+c432b2f4d6797704da15313910b23086c7c6fae7	In conclusion, we describe an inborn @DISEASE$ of glutamate metabolism caused by a GLS @PHENOTYPICFEATURE$ variant, illustrating the importance of balanced GLS activity.	false
+7c47813c17e804ae046920784b38cfc41942c22c	The association between embryonic @DISEASE$ and the development of @PHENOTYPICFEATURE$ has been recognized in the literature, but the mechanism underlying this association remains unknown.	false
+a124bfff8093cac6d0d63617d13b4e593912dadf	beta-Ureidopropionase deficiency: an inborn @DISEASE$ of pyrimidine degradation associated with @PHENOTYPICFEATURE$.	false
+c53b0b38961cb7b5432f2e40e34a99fbeb64c5dd	This is of special interest since inborn @DISEASE$ of folate metabolism are often associated with severe @PHENOTYPICFEATURE$.	false
+1ee6dfb931221c3bdb22b1ca0c8e07c06f8bb6f9	@DISEASE$ @PHENOTYPICFEATURE$ disclosing Graves' disease and paralleling thyroid function but not autoantibody levels.	false
+8d3e74c399436ce4ceafb14a27b4f6612835543e	Seven patients, six boys and one girl, ranging in age from 2 years 7 months to 5 years 6 months at first contact, presented with severe @PHENOTYPICFEATURE$ and dysphasic @DISEASE$.	false
+01a5a556201bea6e5539c192119dc98b3f7687f9	This article provides an overview on @PHENOTYPICFEATURE$ present in childhood secondary to inborn @DISEASE$ of metal transport and neurotransmitter metabolism.	false
+b9f77518db116387f2a6840bbf5dc924fbc190bb	@DISEASE$ and unclassified short rib-@PHENOTYPICFEATURE$ conditions are ciliopathies with overlapping phenotypes and genetic heterogeneity.	false
+6f251e80922dfc638d774fe41ce65e4dc58a6290	Chondroectodermal dysplasia (@DISEASE$) is an uncommon autosomal recessive disorder and one of the short rib @PHENOTYPICFEATURE$ syndromes (SRPS).	false
+053c10524370456ac747c90fb6e487489206bf82	In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-@PHENOTYPICFEATURE$ group (SRPs) that includes Verma-Naumoff syndrome (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis-van Creveld syndrome (EVC), the @DISEASE$, and, finally, Weyers acrofacial dysostosis.	false
+2125432e6c61d6212e75a327736761087373d7ab	These include the perinatal lethal short-rib @PHENOTYPICFEATURE$ syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and @DISEASE$ (CED) phenotypes.	false
+4900bf2fceffbae13a6e6ada4f9754b08834e95c	These include the perinatal lethal short-rib @PHENOTYPICFEATURE$ syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioectodermal dysplasia (@DISEASE$) phenotypes.	false
+5d5918773511eb47752cd892e36afed7d97915c9	Although phenotypes have been historically distinguished based on clinical features into short-rib @PHENOTYPICFEATURE$ syndrome, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, @DISEASE$ (cranioectodermal dysplasia), oral-facial-digital syndrome and Ellis-van Creveld syndrome, recent research suggests that there is significant genetic as well as phenotypic overlap between the conditions.	false
+60d0254cc9d060d42d4b79fb868f54af217ae660	Although phenotypes have been historically distinguished based on clinical features into short-rib @PHENOTYPICFEATURE$ syndrome, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Sensenbrenner syndrome (@DISEASE$), oral-facial-digital syndrome and Ellis-van Creveld syndrome, recent research suggests that there is significant genetic as well as phenotypic overlap between the conditions.	false
+3286b0dee2393e65a304b56ea5fe6d6cb57f48c7	Mutations in WDR35 were identified recently in a sub-group of patients with @DISEASE$ and in a single family that presented with an unclassified form of short-rib @PHENOTYPICFEATURE$ (SRP) syndrome.	false
+f8903c81e49b59def78f1dfc16f3815f4fbed12b	Ciliopathies such as cranioectodermal dysplasia, @DISEASE$, short-rib @PHENOTYPICFEATURE$, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia.	false
+6c84643c7e19ddd390d1802ce4a47e5900b8d314	Ciliopathies such as @DISEASE$, Sensenbrenner syndrome, short-rib @PHENOTYPICFEATURE$, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia.	false
+35947fb6cd7d81b8a8e02217e84b059a4216bd05	Patients with @PHENOTYPICFEATURE$ and complex vascular malformation syndromes, including @DISEASE$ have an increased risk of thromboembolism.	false
+f085b6a7d3fc2960fcf42fddf7567f7c9e149ef5	@DISEASE$ is a very rare congenital condition comprising malformations and @PHENOTYPICFEATURE$ of multiple sorts of tissue.	false
+fd2d8af5ccdc329feea551af7fc61c60e395ffe5	@DISEASE$ is a very rare, sporadic and congenital condition that is characterized by postnatal mosaic @PHENOTYPICFEATURE$.	false
+bfeb9039eea3c8f4b2dad0051b9fce6dddfd10a8	Patients with visceral manifestations of either @DISEASE$ or @PHENOTYPICFEATURE$ not meeting Proteus criteria should be treated in a similar manner.	false
+60a2e7ebe513ca16632d589f9b0f802e3eddd386	@DISEASE$ is a rare, sporadic @PHENOTYPICFEATURE$ disorder for which the underlying genetic defect remains unknown.	false
+92ae46f5d8ec1df7c82cf189a97e4396c92c7257	Twenty-eight patients with limb @PHENOTYPICFEATURE$ and the diagnosis of Klippel-Trenaunay-Weber or @DISEASE$ were evaluated retrospectively.	false
+8684887d4e4bb9514290341ce50eb94beca07bb5	Because of the variability of clinical features, @DISEASE$ can be confused with other disorders of multiple tissue @PHENOTYPICFEATURE$.	false
+a6fd9fda294dfeabf4c341268a779a1ea808a73b	@DISEASE$ is a rare @PHENOTYPICFEATURE$ disorder that almost always affects the skin.	false
+59a15d823fb6feddc60b5607e106d84b551aa20c	@DISEASE$ is a disorder of patchy, or mosaic, postnatal @PHENOTYPICFEATURE$.	false
+cf7569b17017074c8006e25ab7ea3c26da1e41eb	Principles for the surgical management of patients with @DISEASE$ and patients with @PHENOTYPICFEATURE$ not meeting Proteus criteria.	false
+83d98d0380fc721269c4c42bbe15d3ea41a6dff2	Clinical characteristics of @DISEASE$ are xanthomas and mixed @PHENOTYPICFEATURE$ (high total cholesterol and triglycerides); the primary lipid treatment goal in familial dysbetalipoproteinemia is non-HDL-cholesterol; and treatment consists of dietary therapy and treatment with statin and fibrate combination.	false
+8b1c1f568a2f04cfec07c9efd1921e94cecb3508	Clinical characteristics of familial dysbetalipoproteinemia are xanthomas and mixed @PHENOTYPICFEATURE$ (high total cholesterol and triglycerides); the primary lipid treatment goal in @DISEASE$ is non-HDL-cholesterol; and treatment consists of dietary therapy and treatment with statin and fibrate combination.	false
+2f726f4823bf2747add4e8aaeeefa6c7b07813bd	Increase in triglyceride (TG) -rich lipoproteins is also related to several coronary risk factors such as @DISEASE$, decreased HDL-cholesterol, elevated small dense LDL, postprandial @PHENOTYPICFEATURE$, and hypercoagulability.	false
+c8366f0ef9ef5fd1238c671fee549e6f58222cbe	@DISEASE$ is a relatively common, though often not diagnosed, lipid disorder characterized by mixed @PHENOTYPICFEATURE$, remnant accumulation and premature cardiovascular disease, which should be treated with dietary therapy and statin and fibrate combination.	false
+6390aa644151e16edd554359bac2626066503e58	The major causes of moderate and severe hypercholesterolemia are familial hypercholesterolemia, familial combined @PHENOTYPICFEATURE$, severe primary (polygenic) hypercholesterolemia, and @DISEASE$.	false
+a54bd252e63d725779d56e944ceabbf4e3641976	Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by @DISEASE$ fistulae or cysts, preauricular pits, ear malformations, hearing loss, and @PHENOTYPICFEATURE$.	false
+75cf4722dd96823305ab10645299c653d7c8c05b	Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder associated with external-, middle-, and inner-ear malformations, @DISEASE$ sinuses, cervical fistulas, mixed hearing loss, and @PHENOTYPICFEATURE$.	false
+f867166f16d74ef2f4eb68a4f7d55a48a66abd50	The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by @DISEASE$, preauricular sinuses, hearing loss, and @PHENOTYPICFEATURE$.	false
+6a2e11eb6f1c778f8a9b04a060dbb4a050454c83	The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by @DISEASE$, preauricular sinuses, hearing loss, and @PHENOTYPICFEATURE$.	false
+f65a75f3440ef3c984bd535617f39c14e055fa67	Branchio-oto-renal (BOR) syndrome is a developmental complex presenting with various combinations of ear pits, @DISEASE$ cysts, deafness and @PHENOTYPICFEATURE$, which is inherited as an autosomal dominant trait.	false
+cb5c47131a06f431ad30320bf928aaa6fff6ecec	However, many affected subjects have been observed with @DISEASE$ anomalies and hearing loss but without @PHENOTYPICFEATURE$, a condition called "branchio-otic" (BO) syndrome.	false
+6f829535dcaab27f1e0ea495eda99b98f9f5af3e	The EYA1 gene is known as the causative gene of BOR (Branchio-oto-renal) syndrome which is a genetic disorder associated with @DISEASE$ cysts of fistulae, hearing loss, ear malformation, and @PHENOTYPICFEATURE$.	false
+3951d4c209683cbcaa750868632f738bc74ab1b9	It accounts for 2% of laterocervical @PHENOTYPICFEATURE$ and up to 85% of second @DISEASE$ abnormalities [1].	false
+3ed397cf4fc24a89e5653e691caf40df0545696f	In order to find histological data in the differentiation between @DISEASE$ carcinomas and metastatic carcinomas, the specimens from 154 patients with branchial cleft cysts and 7 patients with an isolated @PHENOTYPICFEATURE$ in the neck with unknown primary tumour were reviewed and compared with 10 normal lymph nodes.	false
+19ae57494593cf9216058fa570138ac1a176228c	In order to find histological data in the differentiation between @DISEASE$ carcinomas and metastatic carcinomas, the specimens from 154 patients with branchial cleft cysts and 7 patients with an isolated tumour in the neck with unknown primary @PHENOTYPICFEATURE$ were reviewed and compared with 10 normal lymph nodes.	false
+abed5058fd32e57dd5d1fd1edc80744e5b4be994	In order to find histological data in the differentiation between branchial cleft carcinomas and metastatic carcinomas, the specimens from 154 patients with @DISEASE$ cysts and 7 patients with an isolated @PHENOTYPICFEATURE$ in the neck with unknown primary tumour were reviewed and compared with 10 normal lymph nodes.	false
+420b7caf0ca8d967bccd7efda8cd6d57e469bfcd	In order to find histological data in the differentiation between branchial cleft carcinomas and metastatic carcinomas, the specimens from 154 patients with @DISEASE$ cysts and 7 patients with an isolated tumour in the neck with unknown primary @PHENOTYPICFEATURE$ were reviewed and compared with 10 normal lymph nodes.	false
+5280cdbe53815c885004e1fb07adea386d3cb5cf	The first @DISEASE$ malformation may be unrecognized or may be mistaken for @PHENOTYPICFEATURE$ or other inflammatory lesions in the periauricular region.	false
+1be6cc0a49c19b32a3daf22580a2f51b4c1182fe	Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's disease, drug-resistant @PHENOTYPICFEATURE$, Dubin-Johnson syndrome, Byler's disease, progressive familiar intrahepatic cholestasis, @DISEASE$, persistent hyperinsulimenic hypoglycemia of infancy, and others.	false
+de804cddbe9165c72f2d322e31cb1ebb4e876797	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, @DISEASE$, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis syndrome.	false
+f1f71cd6ef71e5e0d103239785ffb91ec3102a11	Overexpression of @DISEASE$ candidate?1 (WHSC1) is commonly observed in various types of @PHENOTYPICFEATURE$.	false
+cd3de8e1355f12ec0f159acf4d410e6a8b0a715a	These benefits have been applied to disease models of Huntington's, Parkinson's, Duchenne muscular dystrophy, and applied clinically in patients with @DISEASE$, various neuromuscular disorders, McArdle's disease, and @PHENOTYPICFEATURE$.	false
+85d59970d66d5a6aad98e03217a89376c7089286	In light of these new roles of creatine, the dietary supplement's usage has been studied to determine its efficacy in treating @PHENOTYPICFEATURE$, @DISEASE$, insulin insensitivity, cancer, and high cholesterol.	false
+55adcf5e56f3458ee46fac7ff454a665a9784fe9	Findings on computed tomographic scans (significant ventricular enlargement, the absence of @DISEASE$, and the absence of sylvian fissure enlargement) and the clinical triad associated with hydrocephalus in adults (dementia, ataxia, and especially incontinence of urine) all contributed individually and in combination to the diagnosis of @PHENOTYPICFEATURE$ that could be corrected by surgery.	false
+477a428a61842345dc1e31aa98a65ce5c600b18d	Findings on computed tomographic scans (significant ventricular enlargement, the absence of @DISEASE$, and the absence of sylvian fissure enlargement) and the clinical triad associated with @PHENOTYPICFEATURE$ in adults (dementia, ataxia, and especially incontinence of urine) all contributed individually and in combination to the diagnosis of hydrocephalus that could be corrected by surgery.	false
+9242c6d1c9d31f86ff889a43151a0ecd2db23585	Somatic BAP1 mutations are seen in cutaneous melanocytic tumours (epithelioid atypical Spitz tumours and melanoma), @PHENOTYPICFEATURE$, mesothelioma, @DISEASE$, and other tumours.	false
+b33f2d7a9101283048a299aae6f1e1edc89ab1db	We retrospectively evaluated pulmonary metastases of 130 patients (77 men and 53 women, mean age 63, range 22-87) with primary bone (OS) (osteosarcoma; n?=?6), breast (invasive-ductal adenocarcinoma; n?=?17), colorectal (CRC) (adenocarcinoma; n?=?27), head and neck (HNC) (squamous cell carcinoma; n?=?17), kidney (RCC) (@DISEASE$; n?=?10), lung (adenocarcinoma; n?=?12), pancreato-biliary (PBC) (adenocarcinoma; n?=?18), prostate (adenocarcinoma; n?=?5), soft tissue (undifferentiated pleomorphic @PHENOTYPICFEATURE$; n?=?6), skin (malignant melanoma; n?=?6), and urinary tract (transitional-cell carcinoma; n?=?6) malignancies.	false
+b1c812a95d9cb52261fb66acd010d16e401ebd77	This case report suggests that @DISEASE$ should be included in the differential diagnosis of neonatal @PHENOTYPICFEATURE$ and conjugated hyperbilirubinemia.	false
+94f6c9ba231b57d91946209c7ddf89b04607579d	Patients with @DISEASE$ have recurrent attacks of hyperinflammation associated with fever, @PHENOTYPICFEATURE$, arthralgias, and mucocutaneous lesions, and more severely affected patients also have dysmorphisms and central nervous system anomalies.	false
+df59905281891b004021c4acefcaa3ae51990bc2	Hyper-IgD syndrome (@DISEASE$) is a rare autosomal recessive disease characterized by recurrent fever, lymphadenopathy, diarrhoea, @PHENOTYPICFEATURE$, headache, arthralgia and skin rash.	false
+728bd1bb07efebf9b62fda2d74dfd6d632dcc745	To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with @PHENOTYPICFEATURE$ in a family with @DISEASE$.	false
+c47eb19122d2e7512127d7e5829b666ae310e776	@PHENOTYPICFEATURE$ and incident cardiovascular disease and noncardiac vascular events in patients with @DISEASE$.	false
+e6977ba5a8f7e6739bea27cb8661c6dc22270744	A 65-year-old woman with @DISEASE$ (RA) visited our hospital because of right facial sensory @PHENOTYPICFEATURE$.	false
+00855cfc2826524b08ff09312ce8ece489e35816	A 71 year old patient with seropositive @DISEASE$ developed rapidly progressive pneumonitis with bilateral @PHENOTYPICFEATURE$ and severe hypoxemia.	false
+3cd7594b4e68679af7788cb98e5200cc0cfcfac4	A 88 year old female with active @DISEASE$ treated by low dose of prednisolone and methotrexate was admitted to our hospital because of severe bilateral @PHENOTYPICFEATURE$ and acute respiratory distress syndrome.	false
+8b0e723b10733cf26056ef665c87b1de6a2f6e54	[A case of myasthenia gravis associated with @DISEASE$, Sj?gren's syndrome, @PHENOTYPICFEATURE$ and hyperthyroidism].	false
+a2c419d034425b5bc6a276161d8d1751e5f03fa1	The prevalence (95% confidence interval [CI]) of painful musculoskeletal conditions was determined according to a diagnosis of arthritis, osteoarthritis, @DISEASE$, ankylosing spondylitis, @PHENOTYPICFEATURE$, and neck or back pain.	false
+ebd03f15d7d9d000957e67540fc989ea9321ce1e	The prevalence (95% confidence interval [CI]) of painful musculoskeletal conditions was determined according to a diagnosis of arthritis, osteoarthritis, @DISEASE$, ankylosing spondylitis, muscular dystrophy, and neck or @PHENOTYPICFEATURE$.	false
+ee02444c9730a0b1506ff2de1f926bef0ffe5c67	Hypertriglyceridaemic waist is associated with @PHENOTYPICFEATURE$ and metabolic syndrome in @DISEASE$ patients.	false
+9676d3b5f2f0ae221a64971456ae807db77b040b	We report the case of a 60 year female patient suffering from @DISEASE$ for the last 25 years, under TNF-blocker and leflunomide, affected by a recurrent pneumothorax with several subpleural nodules, basal @PHENOTYPICFEATURE$ and apical bullous emphysema.	false
+1fc43375761a7b1567b29dccd6fb415f5d365eb8	This report concerns a 55-year-old woman who developed ocular @PHENOTYPICFEATURE$ after 12 months treatment with D-Penicillamine for her @DISEASE$.	false
+a7923629af916b58f2301ed07f18b1eb20a4e951	Peripheral @PHENOTYPICFEATURE$ in @DISEASE$ in the absence of axial involvement.	false
+303b999035efa0734b1ebbca4eb0c498263fa415	It is widely held that a glutamate-like toxin that resembles N-methyl-D-aspartate may be responsible for the death of nerve cells seen after severe neurological insults including stroke, @PHENOTYPICFEATURE$, and degenerative disorders, such as Huntington disease, Alzheimer disease, and the @DISEASE$ found on Guam.	false
+390d76f7eab8091db90a18a77c47fc309ae94608	Diagnosis of children with OMD included essential tremor (n=7), Tourette syndrome (n=5), primary dystonia (n=2), chronic motor tics (n=2), viral cerebellar ataxia (n=2), drug-induced @PHENOTYPICFEATURE$ (n=1), thyrotoxicosis related tremor (n=1), autosomal @DISEASE$ (n=1), poststreptococcal chorea (n=1), and benign head tremor (n=1).	false
+1443cff73832eb3d27c6362616011a7e82eb2697	Diagnosis of children with OMD included essential tremor (n=7), Tourette syndrome (n=5), primary dystonia (n=2), chronic motor tics (n=2), viral @PHENOTYPICFEATURE$ (n=2), drug-induced ataxia (n=1), thyrotoxicosis related tremor (n=1), autosomal @DISEASE$ (n=1), poststreptococcal chorea (n=1), and benign head tremor (n=1).	false
+52544c4b03eda71e63761def8db41940a0d50fc8	Specifically, it is the connectivity within and between modular cortical circuits that defines conditions such as @DISEASE$ and developmental @PHENOTYPICFEATURE$.	false
+dff61ae02d60c894c61b8652545d251bf35fab53	Problems with speech may reflect motor coordination or @PHENOTYPICFEATURE$, problems with processing language may reflect an auditory processing disorder, whereas more profound delays may reflect cognitive disability or @DISEASE$.	false
+a4e76a94493594d6b50e7d3cf1d59482e44d9f98	Corpus callosum abnormalities, intellectual disability, @PHENOTYPICFEATURE$, and @DISEASE$ in patients with haploinsufficiency of ARID1B.	false
+c68258576c49c29b9c98834778ece7085072dd21	The NDs examined included @DISEASE$, mental retardation, and @PHENOTYPICFEATURE$.	false
+69eebc0c6092376d6f12bcafba5a704391d17b83	Brief report: Inner @PHENOTYPICFEATURE$ in children with @DISEASE$ is associated with greater nonverbal than verbal skills.	false
+d4604410b0122167228a6fabd535bb3742cc2338	Our findings suggest that the motor deficits observed in @DISEASE$ may not be related to structural @PHENOTYPICFEATURE$, and other brain regions, such as the cerebellum and the frontal lobe, may be involved in the pathophysiology of motor disturbances in autism.	false
+1da326d605cd83f57976eca7a6073b30d4673290	Our findings suggest that the motor deficits observed in autism may not be related to structural @PHENOTYPICFEATURE$, and other brain regions, such as the cerebellum and the frontal lobe, may be involved in the pathophysiology of motor disturbances in @DISEASE$.	false
+d92e7d11d77937f2f179a6aff84b0b5ab210c176	In @DISEASE$, @PHENOTYPICFEATURE$, in particular the caudate nucleus, are the best replicated findings in neuroimaging studies.	false
+9e078411eca8057a46f4c644f206a98d947f17c0	Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental @PHENOTYPICFEATURE$, and @DISEASE$ disorder.	false
+669b10663307d660fe7b640bf4119969306d9b49	Children with @DISEASE$ sometimes show hyperesthesia or @PHENOTYPICFEATURE$ to touch, pain, and/or temperature.	false
+0c3bff6f7480f21c844f8c6f1d5f9f31e7fcb5cc	Sleep physiology, different @PHENOTYPICFEATURE$ such as: RBD-REM sleep behavior disorder, EDS - excessive daytime sleepiness, insomnia, OSAS-@DISEASE$, and their clinical manifestation have been presented in this review.	false
+7cf1e42cd9e8de0b2d8ffdf0836e1a39a46edb48	The @DISEASE$ is characterized by nocturnal @PHENOTYPICFEATURE$, excessive daytime sleepiness and neuropsychological deficits in the areas of memory, attention, and executive tasks.	false
+7f28433e699597ce3d70bea6ceb03e2e351e62d4	Sleep fragmentation, repetitive hypoxemia during sleep, excessive sleepiness during the day, lack of concentration, @PHENOTYPICFEATURE$, depression, decreased libido, and impotence are the characteristics of @DISEASE$ (OSAS) that may impair quality of life (QOL).	false
+2e09540042fd9e0d90526b3d1eeb6aa88da7c212	[Total risk for coronary events in cardiac patients due to snoring, daytime @PHENOTYPICFEATURE$, and @DISEASE$].	false
+5108a9f9680a08603c025c2a8c4dbc74ff7b7f98	Automobile accidents are reported as being overrepresented in those suffering from the @DISEASE$ (SAS), evident by snoring, @PHENOTYPICFEATURE$ and diurnal hypersomnia.	false
+2aff2bad10e2ce3b53f03523c4793604b5dece0a	@DISEASE$(OSAS)is a sleep disorder characterized by repetitive upper airway collapse during sleep, causing frequent hypoxia and @PHENOTYPICFEATURE$.	false
+52f5236e87d7bf7ed0859c25df3265cc5aea542c	One of the most common @PHENOTYPICFEATURE$ is @DISEASE$-hypopnea syndrome (OSAHS) which frequently goes undiagnosed.	false
+4225634e7d20fcda8a7304e981153f10896fc649	Several studies indicate an upper airway @PHENOTYPICFEATURE$ in @DISEASE$ (OSAS).	false
+70013007e226504dff72bd7ee6661379c0577043	Polysomnography with CPAP could be necessary in order to check out the efficacy of this treatment and/or to find an associated diagnosis when symptoms persist, particularly a diurnal @PHENOTYPICFEATURE$, which is the main therapeutic target in @DISEASE$ (OSAS).	false
+df69df8561aa5e0ad1984d70a8a7722c55d376ad	The @DISEASE$ (OSA) is a frequently occurring condition, which is becoming a major public health problem because it can be responsible for accidents due to excessive daytime @PHENOTYPICFEATURE$ and because of associated cardiovascular complications.	false
+161b53deddb9bda07cb331916affdc7d938de5a0	Monogenic syndromes were identified in 6% (12/204) of CL?P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); @PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (@DISEASE$) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case).	false
+f9fe8530e79ac6bc63478ec239340e9bb8761ede	Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+e3118126acde0778dd8b54b87e3aa92116eac1c9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, @DISEASE$, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and @PHENOTYPICFEATURE$, pulmonary hypertension, renal failure in infancy and alkalosis syndrome.	false
+1232ef2c462ec588ac557f9317adc7e64b6e5943	@DISEASE$ affects the uvea and posterior chorioretinal area and is associated with permanent visual loss resulting from macular and paramacular scarring, vascular occlusion, and @PHENOTYPICFEATURE$.	false
+10216e0c84462d524baba376abc312c7103e7e63	The causative agent, @DISEASE$ phlebovirus (RVFV), belongs to the genus Phlebovirus in the family Phenuiviridae and causes high rates of abortions in ruminants, and hemorrhagic fever, encephalitis, or @PHENOTYPICFEATURE$ in humans.	false
+b78aa3805da7922a558dfbde5867f2df0e0b3e78	@DISEASE$ (RVF) virus (RVFV) can cause severe human disease characterized by either acute-onset hepatitis, delayed-onset encephalitis, retinitis and @PHENOTYPICFEATURE$, or a hemorrhagic syndrome.	false
+526dda767d401d8c83ce5fea21c88375af853d3d	@DISEASE$ (RVF) is endemic to Africa, and the mosquito-borne disease is characterized by "abortion storms" in ruminants and by hemorrhagic fever, encephalitis, and @PHENOTYPICFEATURE$ in humans.	false
+e742fbfaa9a1461ad5f31b3273b0ca2f254bdd0b	@DISEASE$ (RVF) is a mosquito-borne zoonotic disease endemic to Africa and characterized by a high rate of abortion in ruminants and hemorrhagic fever, encephalitis, or @PHENOTYPICFEATURE$ in humans.	false
+0ac5c5d40fd954e3cdf0b1aca1dc4782d5b7ba8e	@DISEASE$ phlebovirus (RVFV) causes high rates of abortions and fetal malformations in ruminants, and hemorrhagic fever, encephalitis, or @PHENOTYPICFEATURE$ in humans.	false
+410ec5d089c5809b0a29ed15ffd6b2f1e73bdf79	We have screened 13 patients with @PHENOTYPICFEATURE$ and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of @DISEASE$ (optic atrophy, chorea and spasticity; type III 3MGA).	false
+319a48fcf060ee6b3e2ae396e7d6a3caa949bfc4	@DISEASE$ is an autosomal recessive condition characterized by infantile optic atrophy, an early onset @PHENOTYPICFEATURE$, and 3-methylglutaconic aciduria.	false
+16d2d56879f94c7e5b131066471673a62110a29a	@DISEASE$ is a poorly chemo sensitive @PHENOTYPICFEATURE$.	false
+4476dbb0b5c5a060c2b1a633542055e2202fb79f	Lingual @DISEASE$ is a @PHENOTYPICFEATURE$ of childhood with a distinctive, predominantly solid growth pattern.	false
+f21596a3043331395cb7f37befd935eda93839b1	Alveolar soft part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+0c25d1f9771637c663d4644f8ee8505fdd8d028a	@DISEASE$ is a very rare @PHENOTYPICFEATURE$ frequently arising in adolescents and in the extremities, and chemo resistant.	false
+46dba2de715e5a992609cd000b731660a4cd4856	Alveolar soft-part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+23c7a978e11d9e00e6029005a29babb21bafad75	@DISEASE$ @PHENOTYPICFEATURE$ showed the best immunoreactivity to the TFE3 antibody (16/16).	false
+46dba2de715e5a992609cd000b731660a4cd4856	Alveolar soft-part sarcoma (@DISEASE$) is a rare @PHENOTYPICFEATURE$.	false
+7e6a1e89bfa7c19de4d0eddf551d9a984b077956	In both cases, the @PHENOTYPICFEATURE$ exhibited the typical histologic features of @DISEASE$.	false
+92454825ab7aebead8bb3a59b7dda5256e3322dd	Baseline larger @PHENOTYPICFEATURE$ were associated with increased risk of brain metastasis in patients with @DISEASE$.	false
+b39005a0253f39365f71797d4b62886b46e15762	However, patients with @DISEASE$ still die of @PHENOTYPICFEATURE$ evolution.	false
+a9407650278ae94580b93f36aaf7dd7444d57a3a	Children with inborn @DISEASE$ of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit @PHENOTYPICFEATURE$ and neurologic abnormalities.	false
+cf03dae508632eb956dbb58b953bc2cd8c7da7e4	Most inborn @DISEASE$ of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, @PHENOTYPICFEATURE$, comas, hypertonia, abnormal movements and frequent humoral disturbances (organic acidaemias, congenital urea cycle defects); (2) those which lead to a neurological distress 'energy deficiency' type.	false
+877e9d44259088673de25f7827f4df00394cb693	This article reviews current concepts in pathologic classification of lung cancer based on the 2004 World Health Organization classification of @PHENOTYPICFEATURE$ and the 2011 International Association for the Study of Lung Cancer (IASLC)/American Thoracic Society (ATS)/European Respiratory Society (@DISEASE$) classification of lung adenocarcinoma.	false
+339ae954a09f92fae2794c44355c3abe8d998873	Methylmalonic acidemia (MMA) is an inborn @DISEASE$ of organic acid metabolism that occurs in infancy with hypotonia, @PHENOTYPICFEATURE$, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia.	false
+013cad0f5f7a572d1fba3cc1c245dbd237b55218	The presence or absence of @PHENOTYPICFEATURE$ skin lesions in 267 cases of canine atopic dermatitis (@DISEASE$) was recorded across 36 anatomical sites.	false
+9456852a3e3b027facdc385c4b9de3b6ec69123f	We further found that self-regulating strategies may be the component of the @DISEASE$ that is most important to @PHENOTYPICFEATURE$.	false
+ce2b73274d760a804ea16e3ab628dc00b9d7659e	We present our cases with successive changes in CT findings over time and discuss the problems of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+ffbd5ac92e03c160265e3bacd9e7c4f8c7dbfa4e	We examined whether a process common to anxiety, labeled the cognitive attentional syndrome (@DISEASE$), is also associated with @PHENOTYPICFEATURE$.	false
+4b60c9f4eaf64cf37841cd73d5176fb92e045e50	Although @DISEASE$ may be associated with @PHENOTYPICFEATURE$ in the external ear canal, little attention has been paid to this association.	false
+6313a8eaeed3e6bc4b9073db8c5cb69f765176b0	Forty-five percent (9/20) of malignant @DISEASE$ were epithelial ovarian cancer, 20% (4/20) were borderline ovarian tumor, 30% (6/20) were non-epithelial @PHENOTYPICFEATURE$ and 5% (1/20) was a metastasis from the appendix.	false
+93188e77b6caecd547ab06adf531e84a19ef3e97	Forty-five percent (9/20) of malignant @DISEASE$ were epithelial ovarian cancer, 20% (4/20) were borderline @PHENOTYPICFEATURE$, 30% (6/20) were non-epithelial ovarian tumor and 5% (1/20) was a metastasis from the appendix.	false
+7e35c76d6fde57c6efdbe29bda4739afea73eec4	We present two cases of @DISEASE$ with middle ear infection due to destructive @PHENOTYPICFEATURE$.	false
+c98c72246ce5e72bce94b38b88f30004e9284642	Occurrence of @DISEASE$, @PHENOTYPICFEATURE$, diabetic foot, and LEA was significantly higher among males than when compared to females.	false
+e7fb2fc969e7028460f8cd5658779f044606460b	Subjective @PHENOTYPICFEATURE$ have been associated with increased risk of coronary artery disease (@DISEASE$).	false
+0aea8e6ee1c4658e22f9e36a58b5ec26a7b71342	The study was aimed at determining the incidence of changes in sexual function and identifying the possible associated variables of @PHENOTYPICFEATURE$ (ED) in coronary artery disease (@DISEASE$) patients undergoing coronary stenting.	false
+aaec290945fcb2d6d7b8759e7150eb2dc7ea606e	Criteria for histologic differentiation of desmoplastic trichoepithelioma (sclerosing epithelial @PHENOTYPICFEATURE$) from @DISEASE$-like basal-cell carcinoma.	false
+d6baa976cdd4d20712d77eb1a1fbc1ebab78c7ba	@DISEASE$ (MPS) is a syndrome that is characterized @PHENOTYPICFEATURE$, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck).	false
+4610622634d5aacdf87245cc87af010865d1532d	@DISEASE$ (JNA) is a benign but locally invasive @PHENOTYPICFEATURE$.	false
+44bf7791d97ce6d17eae61fd9ffde842625170fb	Endoscopic removal of @DISEASE$ @PHENOTYPICFEATURE$ appears to be safe and effective.	false
+200ed2d124a8128d62118c7155dbf9f56c097461	@DISEASE$: an APC-gene-associated @PHENOTYPICFEATURE$?	false
+c433b287119bb98ccefbd823700073e54a17fbd0	@DISEASE$ (JNA) is a rare @PHENOTYPICFEATURE$ in adolescent males.	false
+b86ad3fe6c9ac161611b0152dd47bf00526bce53	@DISEASE$ (JNA) @PHENOTYPICFEATURE$ can be locally destructive when they spread submucosally.	false
+248c0477dfda301c36b4bb39a596e1a19159b46b	Juvenile nasopharyngeal angiofibroma (@DISEASE$) @PHENOTYPICFEATURE$ can be locally destructive when they spread submucosally.	false
+b721f6de6fcc9d783fe85825ab0d058436a2ce80	Preoperative embolization of @DISEASE$ @PHENOTYPICFEATURE$ can be safely performed without neurological complications.	false
+92c155530ff77e94d26492a608b35da425edbabd	To develop a systematic method for anatomic mapping of juvenile nasopharyngeal angiofibroma (@DISEASE$) @PHENOTYPICFEATURE$ to standardize communication, facilitate surgical planning, and convey prognosis.	false
+e208bf33b7cfdaef7a4becabc99677b2bc464f91	To develop a systematic method for anatomic mapping of @DISEASE$ (JNA) @PHENOTYPICFEATURE$ to standardize communication, facilitate surgical planning, and convey prognosis.	false
+eac0e396fa90a77b2a61fe4e474b1c4a27017579	@DISEASE$ (JNA) is a rare benign @PHENOTYPICFEATURE$ in adolescent males.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+b331db02353809e2fae4d5dd3b4d4940b7837798	@DISEASE$ is a benign, highly vascular, nasopharyngeal @PHENOTYPICFEATURE$.	false
+72106a73d5fb88126d4ee42a66faf4fefef2b98d	@PHENOTYPICFEATURE$ and hypertransaminasaemia in a child with @DISEASE$.	false
+ecb061e09865206e43a753a75b48a3f0c89f6229	3. Patient associated with severe @DISEASE$ and cardiac @PHENOTYPICFEATURE$.	false
+23bd9b1fa8a22dfa9c41649822562ac6c10c411c	[A case of Lambert-Eaton syndrome associated with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+605a6e734cc01411a1c47d580f6b86243c0671d3	Significant @PHENOTYPICFEATURE$ is rare in @DISEASE$.	false
+291aa4fded55d86ff84e53893058076f66b269cb	Catecholamines cause the hypercalciuria and @PHENOTYPICFEATURE$ in phaeochromocytoma and in @DISEASE$.	false
+49e990bca5383e5a8d6f4883fc8645915cbe4be1	@PHENOTYPICFEATURE$ are commonly seen in patients with @DISEASE$.	false
+3c4633ccd9c840c9d63a89e55126708bf5762801	Laboratory evaluation revealed a severe @PHENOTYPICFEATURE$ and overt @DISEASE$.	false
+b8daed29dce5645d38ab6f0d6e163056e0f166f1	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$, which usually subsides after successful treatment of hyperthyroidism.	false
+777fb37583bb6f0d67c5ff3218178f54a4ef74fa	Hyperthyroidism is frequently associated with @PHENOTYPICFEATURE$, which usually subsides after successful treatment of @DISEASE$.	false
+69da1b49ea5d625ea9e561407353307607c04342	@DISEASE$ usually presents with polyuria, polydipsia, fever, @PHENOTYPICFEATURE$, dehydration and failure to thrive.	false
+d5d91a1b9a330c4ec0d1abd374d17ba2ff9067e4	Tubulointerstitial nephritis and uveitis syndrome (TINU) syndrome can present with multiple @PHENOTYPICFEATURE$, including @DISEASE$.	false
+44e8e4c700aeea206d51c1f83f36b0b32f68b0a3	Mastoid were measured on Schuller's mastoid X-ray pictures planimetrically in study group of 146 children with bilateral (BCLP), unilateral (UCLP) and isolated (@DISEASE$) @PHENOTYPICFEATURE$, and control group of non-cleft 52 children, both groups with confirmed otitis media with effusion and no previous otological surgery.	false
+7d0c641f2877f187d6647c1407d2d5027cea5744	The utility of ADC, @PHENOTYPICFEATURE$ size, and @DISEASE$/size ratio for distinguishing low-grade from high-grade tumors was assessed.	false
+7b71b1c5b806f9c73dc0f79ece18f71bb8569161	The utility of ADC, tumor size, and @DISEASE$/size ratio for distinguishing low-grade from high-grade @PHENOTYPICFEATURE$ was assessed.	false
+c33bdcd0a3cda4a8a662ea50569edf8ab6453925	The utility of @DISEASE$, tumor size, and ADC/size ratio for distinguishing low-grade from high-grade @PHENOTYPICFEATURE$ was assessed.	false
+094a92e256ca027cc99a99c955e03915d57b8932	The utility of @DISEASE$, @PHENOTYPICFEATURE$ size, and ADC/size ratio for distinguishing low-grade from high-grade tumors was assessed.	false
+0db4ae98fc39bafc44061281bf9a11b87573251a	For predicting BCR, area under the curve for tumour @DISEASE$ was 0.755, and @PHENOTYPICFEATURE$ ADC showed better diagnostic performance than that of all other variables.	false
+797c384a9e3a8a3e6f1b2d9b1330c102f5143d34	For predicting BCR, area under the curve for @PHENOTYPICFEATURE$ @DISEASE$ was 0.755, and tumour ADC showed better diagnostic performance than that of all other variables.	false
+adafd41b34932f7cbc87697d7d84dfd42233c373	For predicting BCR, area under the curve for @PHENOTYPICFEATURE$ ADC was 0.755, and tumour @DISEASE$ showed better diagnostic performance than that of all other variables.	false
+eba1d0de9a52df12c7c4a42460a45bcb888a6e41	For predicting BCR, area under the curve for tumour ADC was 0.755, and @PHENOTYPICFEATURE$ @DISEASE$ showed better diagnostic performance than that of all other variables.	false
+23798e446c9e7b27bff6e124153ea5dee627de86	Changes in @PHENOTYPICFEATURE$ @DISEASE$ were seen during RT.	false
+989c6de626058433075a15accbec33208dbb3208	Mean @PHENOTYPICFEATURE$ @DISEASE$ value and normal tissue ADC were significantly lower in rFOV EPI (P < 0.001).	false
+949baecd0f4881f4d84cd814e9341b466857d161	Mean @PHENOTYPICFEATURE$ ADC value and normal tissue @DISEASE$ were significantly lower in rFOV EPI (P < 0.001).	false
+1051b1a7a7a91f20af9de667c4b839fa5a505d2e	Regions of interest were placed on ADC maps around tumour margins to generate mean tumour ADC, and over minimum and maximum @PHENOTYPICFEATURE$ @DISEASE$.	false
+782e9ec1f1799800ccffff46c7878d0def08bfce	Regions of interest were placed on ADC maps around tumour margins to generate mean @PHENOTYPICFEATURE$ @DISEASE$, and over minimum and maximum tumour ADC.	false
+9f7525cc0fe8a020773e95fe5a4368cf3f72ee00	Regions of interest were placed on ADC maps around tumour margins to generate mean @PHENOTYPICFEATURE$ ADC, and over minimum and maximum tumour @DISEASE$.	false
+ec23f56e797a1f5190941d8350cf786173ad465a	Regions of interest were placed on ADC maps around @PHENOTYPICFEATURE$ margins to generate mean tumour @DISEASE$, and over minimum and maximum tumour ADC.	false
+72dac37c7b15115da4fe1ff81c3dc5efdd650adb	Regions of interest were placed on ADC maps around @PHENOTYPICFEATURE$ margins to generate mean tumour ADC, and over minimum and maximum tumour @DISEASE$.	false
+29e034eecd7fad1f835a27a9134496421ef059de	Regions of interest were placed on ADC maps around tumour margins to generate mean tumour @DISEASE$, and over minimum and maximum @PHENOTYPICFEATURE$ ADC.	false
+3c1609868b4c5a691bd15a78eac3b519ffb53798	Our results suggest that ADC values and ADC ratios (minimum and mean of @DISEASE$ tumor and ADC @PHENOTYPICFEATURE$ ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+67606bc773c93a71f1d085e20b04079f53e0643c	Our results suggest that ADC values and ADC ratios (minimum and mean of ADC @PHENOTYPICFEATURE$ and @DISEASE$ tumor ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+31bd5fd1a834318729943c4d6d3550199203dced	Our results suggest that ADC values and ADC ratios (minimum and mean of ADC tumor and @DISEASE$ @PHENOTYPICFEATURE$ ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+ef4345ffb4d1758b8047fd31160dd3fa46a3f97b	Our results suggest that ADC values and @DISEASE$ ratios (minimum and mean of ADC tumor and ADC @PHENOTYPICFEATURE$ ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+347a92fdbe79660b01af2436b4cae84f9c84ba85	Our results suggest that ADC values and @DISEASE$ ratios (minimum and mean of ADC @PHENOTYPICFEATURE$ and ADC tumor ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+4e4e28307728a1630940aec62dedcc28ab0aa1c6	Our results suggest that ADC values and ADC ratios (minimum and mean of @DISEASE$ @PHENOTYPICFEATURE$ and ADC tumor ratio) may be helpful in the differentiation of metastases from high-grade gliomas.	false
+50cbec615becad9637319fb79bd0da47f7ddc8b8	Low ADC tumors were found only in boys, whereas high @DISEASE$ @PHENOTYPICFEATURE$ were found in both boys and girls.	false
+04830f9f3737917a6adb1f9ea99b0cccd712b1f4	Low ADC @PHENOTYPICFEATURE$ were found only in boys, whereas high @DISEASE$ tumors were found in both boys and girls.	false
+290e62e0e99130d32901cd590e25a3b9c0382244	Low @DISEASE$ @PHENOTYPICFEATURE$ were found only in boys, whereas high ADC tumors were found in both boys and girls.	false
+2499b9722b765906715e808fce6a5a0fe8e6ba26	Low @DISEASE$ tumors were found only in boys, whereas high ADC @PHENOTYPICFEATURE$ were found in both boys and girls.	false
+c8b63729a26e8ea1e78f9e7b312038840ac785c0	Percent changes in tumor volume and @DISEASE$ were calculated and correlations between @PHENOTYPICFEATURE$ volume and ADC were evaluated.	false
+32487dc4745d9df8fdfdd7069da4db7dc7f35c80	Percent changes in @PHENOTYPICFEATURE$ volume and ADC were calculated and correlations between tumor volume and @DISEASE$ were evaluated.	false
+e4108aa2a092994ef86ff9f5217b48a4eeb35c05	Percent changes in tumor volume and ADC were calculated and correlations between @PHENOTYPICFEATURE$ volume and @DISEASE$ were evaluated.	false
+4870052fff5136906034def45622a91f79dc73b8	Percent changes in @PHENOTYPICFEATURE$ volume and @DISEASE$ were calculated and correlations between tumor volume and ADC were evaluated.	false
+0162c479f1d659fae526bd1df9e21764339f50ae	Whole-tumour apparent diffusion coefficient (@DISEASE$) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the @PHENOTYPICFEATURE$ with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+edfa969cfd0c5e6e1243df822581c519f7b1fc88	Whole-@PHENOTYPICFEATURE$ apparent diffusion coefficient (ADC) maps and histograms were generated, and mean @DISEASE$ and AUC(low) (proportion of the tumour with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+3bf35a8ae0850edf81da02107422068b495d7e26	Whole-tumour apparent diffusion coefficient (ADC) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the @PHENOTYPICFEATURE$ with @DISEASE$ values lying below the 25th percentile of the ADC histogram) recorded.	false
+4226b8fb34d1e394fb0477117986a6cf6c774565	Whole-@PHENOTYPICFEATURE$ apparent diffusion coefficient (@DISEASE$) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the tumour with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+ca0c4590cbe9db984c1c9c46c5187e939e59453b	Whole-@PHENOTYPICFEATURE$ apparent diffusion coefficient (ADC) maps and histograms were generated, and mean ADC and AUC(low) (proportion of the tumour with @DISEASE$ values lying below the 25th percentile of the ADC histogram) recorded.	false
+65b7111aa48af181d99b110a3b730abc6ce38b36	Whole-tumour apparent diffusion coefficient (ADC) maps and histograms were generated, and mean @DISEASE$ and AUC(low) (proportion of the @PHENOTYPICFEATURE$ with ADC values lying below the 25th percentile of the ADC histogram) recorded.	false
+b1468b8f6405ad4c83947be6352684559b460815	Standardized @PHENOTYPICFEATURE$ @DISEASE$ (sT-ADC) was calculated by dividing absolute tumor ADC (aT-ADC) by that of gluteus maximus.	false
+7746a66deca17a680a4689415a9e91c6d0410827	Standardized tumor @DISEASE$ (sT-ADC) was calculated by dividing absolute @PHENOTYPICFEATURE$ ADC (aT-ADC) by that of gluteus maximus.	false
+69715257c539008a5ae51927fb06ba66b17177d8	Standardized @PHENOTYPICFEATURE$ ADC (sT-ADC) was calculated by dividing absolute tumor @DISEASE$ (aT-ADC) by that of gluteus maximus.	false
+d09c81e60130278917469db516e7101ab80dce9f	Standardized tumor ADC (sT-ADC) was calculated by dividing absolute @PHENOTYPICFEATURE$ @DISEASE$ (aT-ADC) by that of gluteus maximus.	false
+439af8e35b104420705252e3232dc8f1c2d555b5	The type II collagenopathies form a continuous spectrum of clinical severity, ranging from lethal achondrogenesis type II and hypochondrogenesis, through spondyloepiphyseal dysplasia, @PHENOTYPICFEATURE$ and Kniest dysplasia to the @DISEASE$ and familial precocious osteoarthropathy at the mildest end of the spectrum.	false
+6b168c66a16f35b3adaaa8268fa5a110f79f5e4c	None of the affected family members had early-onset @PHENOTYPICFEATURE$, hearing abnormalities, abnormal clefting or facial features characteristic of classical @DISEASE$.	false
+2345b9f721bfeaabdf67952595fb458957598e01	They include achondrogenesis type II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, @PHENOTYPICFEATURE$, Kniest dysplasia, and @DISEASE$.	false
+6b1e48b2eae4519795f24a905ebcf51a4df4b738	Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, @PHENOTYPICFEATURE$ congenita, Marshall syndrome, to the mild forms--@DISEASE$ and early osteoarthritis.	false
+bfbe017859cbbd81c35039f27498361ceff2bc5b	The h-contactin gene locus is thus in close proximity to homeobox 3, integrin subunit alpha 5, several proto-oncogene genes, a chromosomal breakpoint associated with various @PHENOTYPICFEATURE$, and the gene locus for @DISEASE$.	false
+6d12d383d6216474e37ed240dea6427da91b5f07	This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the @DISEASE$3q phenotype and severe eye and @PHENOTYPICFEATURE$.	false
+6819ea047f2724c7607df2ff95b43073fff14033	@DISEASE$ (EVC) is a rare developmental disorder characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities.	false
+c66e4008475231af6afb1c5a1ffa3c67a7f4b299	Ellis-van Creveld (EVC) syndrome (@DISEASE$, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+3b9d36fc0f82c6b9dc34f1d2af84d8d6185b41f0	@DISEASE$ (EVC), also known as chondroectodermal dysplasia, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies.	false
+86a84dc47838aa24ef7fe4fe88dcb042d8ce78ce	Ellis Van Creveld syndrome (EVC), also known as @DISEASE$, presents at birth with @PHENOTYPICFEATURE$ accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies.	false
+78d611408b41e454f7113dee0bc2d32e161280a6	@DISEASE$ is an autosomal recessive disorder characterised by short stature with @PHENOTYPICFEATURE$, postaxial polydactyly and congenital cardiac defects.	false
+8c4f07ba00511e72f7077ed56b915a4822a886c9	@DISEASE$ (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly, and dysplastic nails and teeth.	false
+09d75ed217c8dced14f5ad6acf76f2dc1025adc5	@DISEASE$ (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short @PHENOTYPICFEATURE$ ribs, postaxial polydactyly and dysplastic nails and teeth.	false
+0c78c21e08de73f3adc39e963bd6cbf4f2f1414a	We present an infant with the lethal @DISEASE$ who was diagnosed prenatally from the sonographic detection of a narrow chest, postaxial hexadactyly of the hands and feet, @PHENOTYPICFEATURE$ and a single atrium.	false
+6e0ca81a92b3ef38c0f3c8dfcfa57707ca498099	@DISEASE$ is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, @PHENOTYPICFEATURE$, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet.	false
+c84a5a876cd638a63afdc1f07e44775cf13f0f43	@DISEASE$ is a rare autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, post-axial polydactyly, ectodermal dysplasia, edentulous mandibular incisor region, absence of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches.	false
+980623759656e58df1f80843cbf4054233bd0afb	BACKGROUND @DISEASE$ is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, @PHENOTYPICFEATURE$, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+f6c0ab34de9b305bc97d33415fc9f9b142aa20d8	There are reported cases of opsoclonus @PHENOTYPICFEATURE$ ataxia in association with @DISEASE$.	false
+7a40b0e414616054b32023a484b60aa28c9c77f7	Involvement of the central nervous system in @DISEASE$ and dengue hemorrhagic fever has always been thought to be secondary to vasculitis with resultant fluid extravasation, cerebral edema, hypoperfusion, hyponatremia, liver failure, and/or @PHENOTYPICFEATURE$.	false
+3c8d2c72df223035f3c63806eb418b416b6eb2b3	Elevated @PHENOTYPICFEATURE$ necrosis factor in dengue fever and @DISEASE$ haemorrhagic fever.	false
+dcd5d43d883876a12ea145330832e9f875a1083b	BBB - blood-brain barrier, CNS - central nervous system, DAMP - damage-associated molecular patterns, DENV - dengue virus, DF - @DISEASE$, DHF - dengue hemorrhagic fever, DSS - dengue shock syndrome, DALYs - isability adjusted life years, IFN-g - interferon-gamma, ILX - interleukinX, JAK/STAT - janus kinase (JAK) / Signal transducer and activator of transcription (STAT), LT - Escherichia coli heat-labile enterotoxin formulations deficient in GM1 binding by mutation (LT[G33D]), MCP-1 - monocyte chemotactic protein 1, M-CSF - macrophage colony-stimulating fact, MHC - major histocompatibility complex, MIF - macrophage migration inhibitory factor, [MIP-1]-? / -? - macrophage inflammatory protein-1 alpha and beta, mAb - monoclonal antibody, NS1 - non-structural protein 1 of dengue virus, NK - natural killer cells, PAMP - pathogen-associated molecular patterns, PBMC - peripheral blood mononuclear cells, TBF-b - transforming growth factor-beta, TNF-? - @PHENOTYPICFEATURE$ necrosis-alpha, VHFs - virus hemorrhagic fevers, WHO - World Health Organization.	false
+6ce2a5e14effffd3595d6ba7c5128efbbfbab5fd	@DISEASE$ haemorrhagic fever and dengue shock syndrome: are they @PHENOTYPICFEATURE$ necrosis factor-mediated disorders?	false
+954c67c80657dff6d0ad6f22ff73c85e262ce91a	Seventeen years after bilateral adrenalectomy, performed for @DISEASE$, a patient presented with a newly developed @PHENOTYPICFEATURE$.	false
+fd122348699295419123c6e5323ec4faddabb38d	Apart from joint/bone related conditions, strong associations with RA (RR > 3) were found for Adverse effect medicinal and biological substance not elsewhere classified, Unspecified adverse effect drug properly administered, Idiopathic fibrosing alveolitis, Osteomyelitis, @PHENOTYPICFEATURE$, Elevated sedimentation rate, Tuberculin test reaction abnormal or positive, Anemia and @DISEASE$.	false
+2cf8efd10542575afae366a8461c365064b03196	A 64-year-old Japanese man with mild reticular shadows in both lungs developed a @PHENOTYPICFEATURE$ causing ectopic @DISEASE$.	false
+7b00b9d3f49cd4583a85ea40f55aaebbc0066a09	To our knowledge, this is the second case described in literature of @DISEASE$ caused by neuroendocrine @PHENOTYPICFEATURE$ responsive to bromocriptine.	false
+34e7443417ae8f484d1736e0f94b35a60975d4b7	This is a case of a 35-year-old woman with @DISEASE$, who presented with @PHENOTYPICFEATURE$ and jaundice.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+2db983d535465b7ca264b8e6bd186db8ce99d01f	Of 20 patients 4 presented with @PHENOTYPICFEATURE$ and 1 had @DISEASE$.	false
+c47e48d3c2bbbb1995ab70c51fba42670410200e	Reversibility of @PHENOTYPICFEATURE$ in anorexia nervosa and @DISEASE$.	false
+289e1c64f1ff314bc7d42acf0a4fafec8000a3a3	This chapter focuses on causes of hyperandrogenism in adolescents, especially adolescent girls, including disorders of steroidogenesis, @PHENOTYPICFEATURE$, @DISEASE$, tumors, and glucocorticoid resistance.	false
+00e1aa1a5ddd388dc19c5f20289dbad9f0cdba51	A 34-year-old female presented with a constellation of symptoms of @DISEASE$, including facial swelling, muscle weakness and @PHENOTYPICFEATURE$.	false
+2c73c8b35f0e3a7bf34bccbb475f1a0837d55f70	The hereditary O-@DISEASE$ in ob/ob mice is characterized by @PHENOTYPICFEATURE$, resistance to the action of insulin, and hyperinsulinism.	false
+5f7214febcee70ea7e512b1a3cbd090bd850aa5d	Severe complications including acute chest syndrome, @PHENOTYPICFEATURE$, pancreatitis, and acute renal failure were associated with DHTR/@DISEASE$ in our patients.	false
+68c80437d06e85714105c823c9bc26c679fb686c	@DISEASE$ (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, @PHENOTYPICFEATURE$, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and flexion contractures.	false
+9d76efbcb50c5ae10319d11f7cda055f5f85843f	Among these include @DISEASE$, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, @PHENOTYPICFEATURE$ and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes.	false
+c3842cdf5e6214b2fac121b7712907d732397269	The VACTERL-@DISEASE$ is a rare combination of vertebral anomalies, anal atresia, @PHENOTYPICFEATURE$, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus.	false
+9fad788dbdbf992f672fb81dc9f1d3d35dd29ec8	Developmental tumor was found in 14 cases, malformation of cortical development (@DISEASE$) in 26, isolated hippocampal sclerosis (HS) in 5 and gliosis in 7. Dual pathology (DP) affected 18 patients and the main extrahippocampal lesion consisted of microscopic sub-cortical heterotopias (HS-HT) for 15 patients who shared a particular clinical pattern: a history of @PHENOTYPICFEATURE$ (FS) and/or brain injury, early onset of epilepsy without latent period from FS to the first temporal seizure, and a particularly good outcome following surgery.	false
+2de21c790c55e8c0fef080e6dbba4dd6127cd326	Chi square test revealed no signi cant difference between the @DISEASE$ and IHI groups across the patients in different age groups, gender, type of seizure, duration and onset of seizure, seizure frequency, clustering, status epilepticus, EEG, @PHENOTYPICFEATURE$, and family history.	false
+f942c9266c46d007ce18848e5e4d4a14828366a2	We report a case of a 53?year old patient with T-LGL, @DISEASE$ (ITP) and combined antibody deficiency, who presented with @PHENOTYPICFEATURE$ and reduced general condition.	false
+1820f88a01d82e85a4a66865dc2ab17620a1dbc6	The patient had been previously diagnosed with retinal @PHENOTYPICFEATURE$, @DISEASE$, and hepatosplenomegaly.	false
+2b27c61141c539e663dfcc4d8bcfaa3a8e44efda	A patient with refractory @DISEASE$ developed widespread palpable purpura, @PHENOTYPICFEATURE$, diarrhea, and arthralgias forty-eight hours following a third protein A immunoadsorption treatment.	false
+ff6f597d21060342a76ad2acab6929c30ac02e11	A 45-year-old man who had undergone splenectomy 20 years earlier for @DISEASE$ (ITP) presented with a @PHENOTYPICFEATURE$, arthralgia and vesicular skin rash.	false
+fefdedf39d3a5049864468f222ad4a3dcbcd60a1	A 26-year-old woman with @DISEASE$ (ITP) was admitted to our hospital because of @PHENOTYPICFEATURE$ and rash.	false
+599767871f32b6e6a0033b79ba6ac792ec0eb41f	All measles-containing vaccines are associated with several types of adverse events, including seizure, @PHENOTYPICFEATURE$, and @DISEASE$ purpura (ITP).	false
+a10fbe9260767846ee32aafaec9b5c30017a98dc	A 71-year-old woman with @DISEASE$ (ITP), who had been treated with steroid and cyclosporine, was admitted in an emergency with @PHENOTYPICFEATURE$ and dyspnea.	false
+fe6dd90e39f274fe503117926e53c403b38a0e43	To determine the safety and effectiveness of endoscopic injection sclerotherapy (@DISEASE$) for children with @PHENOTYPICFEATURE$.	false
+edf6d94e63c48745423628dbcf9b68a7e846c5f1	The immunohistochemical study confirmed the endothelial origin of the @PHENOTYPICFEATURE$, and a final diagnosis of @DISEASE$ with pseudoepitheliomatous hyperplasia was confirmed.	false
+727d870240f059fb083a4d45620c0063fb001ee6	We consider these @PHENOTYPICFEATURE$ to be a variant of @DISEASE$ and propose to term them digital verrucous fibroangioma.	false
+31e0ff9ac892c6b945c0b61ed7def92cdd383a08	No firm conclusion seems possible as to whether @DISEASE$ is a malformation or an indolent @PHENOTYPICFEATURE$, but clinical evidence favors the former category.	false
+d47e71d1271239ee35b08bed98a5535183f5317d	With the exception of the typical rash of @DISEASE$, spinal @PHENOTYPICFEATURE$ caused by osteoporosis was the most prominent symptom.	false
+7cc3aa7c923b77c41b1a59144b1e5f3527ee9894	One previous study suggested that @DISEASE$ sufferers may have @PHENOTYPICFEATURE$.	false
+8609fa5d6c80e9bb903877ee6e7c35a9eb3a52dc	These results suggest that TTR synthesized in the CPE may lead to ocular manifestations, especially @PHENOTYPICFEATURE$, in @DISEASE$.	false
+13e7eef809c8ddf0fbc0e1e74d6002f8d1113e34	In addition to neurologic symptoms, @DISEASE$ may be associated with @PHENOTYPICFEATURE$, cardiac and renal failure and ocular complications.	false
+811b8ccbad5aa2ac92441732cf7725e2228c8748	Functional abdominal pain (@DISEASE$) is associated with enhanced @PHENOTYPICFEATURE$ responsiveness.	false
+5a140d4c9cdb24c408320b2b0565deec20d80af9	@DISEASE$ patients had @PHENOTYPICFEATURE$ contrast sensitivity than normal even in absence of visible opacification of the anterior capsule of the lens.	false
+5bffaddbc5179dc9b1069907afffd668cd863566	Various extracolonic malignancies are associated with @DISEASE$, including desmoids and @PHENOTYPICFEATURE$, duodenum, pancreas, liver, and brain.	false
+66ece4a1f750f580626e2342387f3dd6db2f6d63	Is @DISEASE$ associated with @PHENOTYPICFEATURE$?	false
+984c536686ae25d93e93582b3a8b5f065017f8e9	@PHENOTYPICFEATURE$ was present in 24.8% of symptomatic @DISEASE$ patients.	false
+cdf59cc4afad1f3d56d03030a3015bc20ddd5290	There was no statistically significant difference between @DISEASE$ nonglaucoma eyes versus non-FAP @PHENOTYPICFEATURE$ eyes (p = 0.23) and FAP glaucoma eyes versus FAP nonglaucoma eyes (p = 0.29).	false
+5c996d49e955876924686989c681d0db4765de87	There was no statistically significant difference between FAP nonglaucoma eyes versus non-FAP @PHENOTYPICFEATURE$ eyes (p = 0.23) and @DISEASE$ glaucoma eyes versus FAP nonglaucoma eyes (p = 0.29).	false
+38a4402ccc35e7937c577682e01a06c73544f008	There was no statistically significant difference between FAP nonglaucoma eyes versus non-FAP @PHENOTYPICFEATURE$ eyes (p = 0.23) and FAP glaucoma eyes versus @DISEASE$ nonglaucoma eyes (p = 0.29).	false
+85ff5dca47d6cdfdc5b919aee35a0b0d0c0c497a	There was no statistically significant difference between FAP nonglaucoma eyes versus non-@DISEASE$ @PHENOTYPICFEATURE$ eyes (p = 0.23) and FAP glaucoma eyes versus FAP nonglaucoma eyes (p = 0.29).	false
+ade27f8fb9741697c0eb23cc7c3f95c3f277bcf1	@PHENOTYPICFEATURE$ is amongst the most serious complications of @DISEASE$.	false
+9b81ca6b5c3c64fe81082b578519239cb5462e55	Severe infantile form of @DISEASE$ is clinically characterized by marked @PHENOTYPICFEATURE$ and weakness with respiratory and feeding difficulties since infancy.	false
+971913cc31367f13ba06070c2ff83794ca5c2cd1	@DISEASE$ is a heterogenous form of congenital myopathy characterised by a variable spectrum of clinical features, predominated in the severe form by profound @PHENOTYPICFEATURE$ and weakness accompanied by respiratory insufficiency.	false
+b34acecdacdc879c9a6d7489b28777f04bb365a8	Diagnoses included 17 patients with cerebral palsy, six with @PHENOTYPICFEATURE$, and 11 with other diseases (spinal muscular atrophy, Friedreich's ataxia, polyneuropathy, @DISEASE$, and polio).	false
+e3f4db47bb5f7e5d32439934fbfe10df99f179e3	Diagnoses included 17 patients with cerebral palsy, six with spinal bifida, and 11 with other diseases (spinal muscular atrophy, Friedreich's @PHENOTYPICFEATURE$, polyneuropathy, @DISEASE$, and polio).	false
+dddc823d1e4cf2d730db3b577a94b5cba0bb8dac	The skin biopsy showed epidermal hyperplasia and @PHENOTYPICFEATURE$ with perivascular infiltrates, consistent with @DISEASE$.	false
+68088898755935a074b549102e2e9cab46ad651a	@DISEASE$ is an extremely rare genodermatosis of autosomal-recessive inheritance which usually manifests itself between the ages of 6 months to 4 years characterised by diffuse palmoplanter @PHENOTYPICFEATURE$ (keratoderma), and rapidly progressive and devastating periodontitis, affecting the primary as well as permanent dentition.	false
+3ebe9273091a8dd9f16715ae5d6cbcbc10939c0f	Papillon-Lef?vre syndrome (@DISEASE$) is a rare autosomal recessive disease that involves severe periodontitis and @PHENOTYPICFEATURE$ of the hand palms and foot soles.	false
+e245c4f7793b55640e70a00922eafa90c5a500a4	Papillon-Lef?vre syndrome (@DISEASE$) is a disorder that involves destruction of the periodontium and abnormal @PHENOTYPICFEATURE$ of the palms of the hands and soles of the feet.	false
+e245c4f7793b55640e70a00922eafa90c5a500a4	Papillon-Lef?vre syndrome (@DISEASE$) is a disorder that involves destruction of the periodontium and abnormal @PHENOTYPICFEATURE$ of the palms of the hands and soles of the feet.	false
+e71ca825b7c9a60b2e3e7cd11488133d64fcf153	@PHENOTYPICFEATURE$ palmoplantaris or @DISEASE$ (PLS) is a rare condition believed to be inherited as an autosomal recessive trait.	false
+5168e0ef9bc98b62013fcd805c30b3339f9014b2	@PHENOTYPICFEATURE$ palmoplantaris or Papillon-Lefevre Syndrome (@DISEASE$) is a rare condition believed to be inherited as an autosomal recessive trait.	false
+c83d687d7939540958c36a0644eea1dc51f62bd5	@PHENOTYPICFEATURE$ palmoplantaris with involvement of teeth (@DISEASE$).	false
+48a9b6c0f0a0eba1e1515bd4905fd7cc423fe344	Here we report the clinical and genetic features of five @DISEASE$ patients presenting a severe periodontal breakdown in primary and permanent dentition, @PHENOTYPICFEATURE$ over palms and soles, and recurrent sinusitis and/or tonsillitis.	false
+aa57fc4558bb02c2e550e1c658dafb7efc2722a2	Papillon-Lef?vre syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by immune dysregulation because of a mutation in cathepsin c gene, resulting in @PHENOTYPICFEATURE$ of the palms, soles, elbows, and knees combined with premature loss of the primary and permanent dentitions.	false
+c2f4baca3c762a9817780730e7878b2910728b89	@DISEASE$ (PALS) is a rare, autosomal recessive disorder characterized by periodontitis and @PHENOTYPICFEATURE$ over the palms and soles.	false
+41bc98821022f176451020d14b5d5524ee93013d	A 44-year-old Japanese man with a 14-year history of @DISEASE$ (SSc) was admitted with a fever, hypertension, @PHENOTYPICFEATURE$, thrombocytopenia, and renal dysfunction.	false
+17b5a54d557283c28c3edf64fb6e4f2b2d1011df	A 64-year-old woman affected with @DISEASE$ developed bilateral @PHENOTYPICFEATURE$.	false
+8935f513692f9cc7c3241950d2c23562288d1580	Involvement of the eighth cranial nerve with scleroderma and @DISEASE$ is rare, but appears to be the cause of @PHENOTYPICFEATURE$ in our patient.	false
+143ca2610a4c37d9e4f5f7aee3bff7e9a1aa3a8e	A case of @DISEASE$ caused by a novel COL1A2 gene mutation: endoscopic third ventriculostomy to prevent @PHENOTYPICFEATURE$.	false
+e206500435ad76d08aeada2137df54d485c3ccd9	The report describes clinical responses of the first children to undergo allogeneic bone marrow transplantation (BMT) for @DISEASE$ (OI), a genetic disorder characterized by defective type I collagen, osteopenia, bone fragility, severe bony deformities, and @PHENOTYPICFEATURE$.	false
+39c239b3217a14c6c5284efc7b4f057e10152ef2	We present the case of a mother and four children displaying signs of @DISEASE$ (SYNS1) associated with @PHENOTYPICFEATURE$.	false
+d6ef37aaf720674d3cbca2ec9e3e7e67e301e08a	@DISEASE$ (SYNS) is an autosomal dominant skeletal disorder characterized by facial dysmorphism, progressive fusion of multiple joints, and @PHENOTYPICFEATURE$.	false
+83c62e7e3635000e90b6545593038d268a453eb7	The other patient had a partial @DISEASE$ syndrome with diabetes, @PHENOTYPICFEATURE$ and cholelithiasis.	false
+71391937f6418ae13d90a6a38dd741bb6e5d1855	It has been recently verified that early, frequent, and severe renal lesions occur in patients with @PHENOTYPICFEATURE$/@DISEASE$, which may lead to increased morbidity and mortality.	false
+dc9fa53d6a9d4315dd4e435983ab4dc1a222d47d	We evaluated 14 @DISEASE$/hyperparathyroidism and 104 sporadic @PHENOTYPICFEATURE$ patients.	false
+1b16088f6348de3cea38b24e82c67e2ac30a3d62	Germline mutations in the tumour suppressors multiple endocrine neoplasia type 1 (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of @DISEASE$ and @PHENOTYPICFEATURE$ jaw tumour syndrome, respectively.	false
+f6e03eaac6e1da348cc516ff9878305121d53ad6	Germline mutations in the tumour suppressors @DISEASE$ (MEN1) and hyperparathyroidism 2 (HRPT2) provide a molecular diagnosis of multiple endocrine neoplasia type 1 and @PHENOTYPICFEATURE$ jaw tumour syndrome, respectively.	false
+a1c32ee2378b3f682840ae4f0a215a93399a9ea9	@PHENOTYPICFEATURE$ affects most patients with @DISEASE$ (MEN 1).	false
+8ec72b9e48bf04399c7690cf4daefdb61594bef0	Primary hyperparathyroidism associated with multiple endocrine neoplasia type I (hyperparathyroidism/@DISEASE$) differs in many aspects from sporadic @PHENOTYPICFEATURE$, which is the most frequently occurring form of hyperparathyroidism.	false
+49f0cdd39a5112d802e84f38d14f93cfac81d1c5	Primary hyperparathyroidism associated with @DISEASE$ (@PHENOTYPICFEATURE$/multiple endocrine neoplasia type 1) differs in many aspects from sporadic hyperparathyroidism, which is the most frequently occurring form of hyperparathyroidism.	false
+e9532c2bd636502823e2abb4bfc035a00ec4713b	Primary hyperparathyroidism associated with @DISEASE$ (hyperparathyroidism/multiple endocrine neoplasia type 1) differs in many aspects from sporadic @PHENOTYPICFEATURE$, which is the most frequently occurring form of hyperparathyroidism.	false
+b1e1db876f86a14831c2d88e6cccf30cc90993c9	Primary hyperparathyroidism associated with multiple endocrine neoplasia type I (@PHENOTYPICFEATURE$/@DISEASE$) differs in many aspects from sporadic hyperparathyroidism, which is the most frequently occurring form of hyperparathyroidism.	false
+64b2edab4f002ade523f3e6daf7e324966f8d74f	Unsuccessful surgical treatment of hyperparathyroidism is more frequently observed in @DISEASE$ than in sporadic @PHENOTYPICFEATURE$.	false
+1444b5d09e47a0d8ff3e6b3e6e1b3cb4dc5ae628	In addition, renal complications secondary to sporadic @PHENOTYPICFEATURE$ are often studied, but very little work has been done on this issue in hyperparathyroidism/@DISEASE$.	false
+f02cb589c91a92a4e9d013636d305a475c4b7402	Early bone mineral losses are highly prevalent in the trabecular bone of patients with @PHENOTYPICFEATURE$/@DISEASE$.	false
+f3aa108af8dbc5c78be25e82ff8c636ae4565aab	The hereditary syndromes include @DISEASE$ (MEN 1) and 2A (MEN 2A), hereditary @PHENOTYPICFEATURE$-jaw tumor (HPTJT), familial isolated hyperparathyroidism (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).	false
+7ab95c79eecfc8bc389d40b2bd503d0f0ec1f526	The hereditary syndromes include @DISEASE$ (MEN 1) and 2A (MEN 2A), hereditary hyperparathyroidism-jaw tumor (HPTJT), familial isolated hyperparathyroidism (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe @PHENOTYPICFEATURE$ (NSHPT).	false
+e7c9aa556e617b35d45861dd68f9e884432e270c	Conversely, hyperparathyroidism associated with multiple endocrine neoplasia type 1 (@PHENOTYPICFEATURE$/@DISEASE$) is an asynchronic, asymmetrical multiglandular disease and it is surgically approached by either subtotal parathyroidectomy or total parathyroidectomy followed by parathyroid auto-implant to the forearm.	false
+81f8f6201e4f24cacddc55c858c93d993de3b7ec	Conversely, hyperparathyroidism associated with @DISEASE$ (@PHENOTYPICFEATURE$/multiple endocrine neoplasia type 1) is an asynchronic, asymmetrical multiglandular disease and it is surgically approached by either subtotal parathyroidectomy or total parathyroidectomy followed by parathyroid auto-implant to the forearm.	false
+ff9d75555c6e511a81183f6e35ab902608d02204	Penile conditions, such as @DISEASE$ or @PHENOTYPICFEATURE$ resection may require surgical reconstruction of the tunica albuginea.	false
+a916f978704ddde4edd74a4b79e4e339a63f0de2	A number of disease processes, including @DISEASE$, penile fractures and penile @PHENOTYPICFEATURE$, are clearly visualized with ultrasound.	false
+3f51506c7d9d04f29826e7163387453b66631f92	Knuckle pads have been observed in association with autosomal dominant conditions such as Bart-Pumphrey syndrome, Dupuytren's @PHENOTYPICFEATURE$, Ledderhose disease, and @DISEASE$.	false
+d8153e2bc53dad429eed7e4ddb0b36416bcbba8d	The nosological individualization of this soft tissue rheumatism is analyzed based on a review of Dupuytren's lectures and of writings by XIXth century practitioners; the other two conditions included in Dupuytren's diathesis, namely Ledderhose's @PHENOTYPICFEATURE$ and @DISEASE$, are also discussed.	false
+921231469d72e61fe0b1b99a605dc83b887b8979	Other adverse effects may include hypotension, hypertension, arrhythmias and @DISEASE$, @PHENOTYPICFEATURE$, pericarditis and thrombo-embolic complications.	false
+44936eca6fae102a0de9b59c92659beec81d5b57	We present a patient who presented simultaneously with @DISEASE$ (supported by dry mouth, positive Schirmer's test, anti-Ro/SSA antibodies, and a lower lip salivary gland biopsy) and AL amyloidosis revealed by @PHENOTYPICFEATURE$ without myeloma.	false
+45981e028755537fee99639a031d1cfa1091cbea	Two other patients developed @DISEASE$ due to primary systemic L-amyloidosis with Bence-Jones paraproteinuria, renal insufficiency and amyloid cardiomyopathy; both died of @PHENOTYPICFEATURE$.	false
+9804b1ed05637b0418680f0817e886702e6c48ff	compared to controls after adjusting for diabetes, hypertension, coronary heart disease, @PHENOTYPICFEATURE$, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, and asthma.	false
+38e186250b22c8ae567e9a0f07c0aefca8089401	MCD merits consideration in patients with lymphadenopathy and multisystem disease, including @DISEASE$, @PHENOTYPICFEATURE$ or rash.	false
+11d0fe9078e419099748c1395d7128afe146bf90	P?<?0.001) after adjusting for diabetes, hypertension, coronary heart disease, @PHENOTYPICFEATURE$, hyperlipidemia, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraine, @DISEASE$, allergy, endometriosis, asthma, overactive bladder, tobacco use disorder, and alcohol abuse.	false
+ca675aa2c7448b7b9050fca32485c7a62968b0b4	Significantly higher proportions of comorbidities such as @PHENOTYPICFEATURE$, diabetes, hypertension, hypothyroidism, liver disease, renal failure, @DISEASE$, systemic sclerosis and portal hypertension, etc. were present in these patients.	false
+203f83a21e557ad142c1638d390509b2b9e7efb6	After adjusting for co-morbidities like diabetes, hypertension, coronary heart disease, @PHENOTYPICFEATURE$, hyperlipidemia, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, asthma, tobacco use, and alcohol abuse, the Cox proportional hazards regressions revealed that the hazard ratio for BPS/IC among subjects with endometriosis was 3.74 (95% CI?=?1.76-7.94,	false
+e9ec8d5aba23ccc2d266e32748e55a51f2b7b027	compared to controls after adjusting for diabetes, coronary heart disease, @PHENOTYPICFEATURE$, hyperlipidemia, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, and asthma.	false
+935e3cd063d2159df1bdae95028ae1111387faec	After adjusting for diabetes, hypertension, coronary heart disease, @PHENOTYPICFEATURE$, hyperlipidemia, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, asthma, tobacco use disorder, and alcohol abuse, the stratified Cox proportional hazards regressions revealed that the hazard ratio for BPS/IC among subjects with OSA was 3.71 (95% CI = 1.81-7.62,	false
+428137ee2c6a580883e978fa59e6745095b8b50d	As a result of transfusional hemochromatosis, this patient had already developed diabetes, hypogonadism, @PHENOTYPICFEATURE$, and the @DISEASE$; he was serum and tissue HBsAg negative.	false
+a788dc2705233a2009280fb3cc47da50260aae9b	Actigraphy therefore would be particularly good for aiding in the diagnosis of delayed or advanced sleep phase syndrome, @DISEASE$-hour-sleep syndrome and in the evaluation of @PHENOTYPICFEATURE$ in shift workers.	false
+5f09eda7161c2f40dfe8bc8384bbb23c39b7c9ef	2. The observation that some patients with only mild-to-moderate hypertension exhibit gross left ventricular hypertrophy (LVH) similar to the inherited hypertrophic cardiomyopathies such as @DISEASE$ (FHC) and Friedreich's @PHENOTYPICFEATURE$ (FA) has prompted us to investigate the hypothesis that genetic factors associated with excessive myocardial hypertrophy, viz.	false
+cb731e77ff7dbf2fac848e5abe55fd893d38845f	@DISEASE$ is a rare, autosomal-recessive @PHENOTYPICFEATURE$ characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting.	false
+1ba40d8367eb547aaeaad829459f0cd055ac26a6	After receiving a total of six doses of cetuximab, a 72-year-old male presented with pretibial @PHENOTYPICFEATURE$, @DISEASE$-like skin rash, and nephrotic syndrome.	false
+6b50209fcb33a18c6eb0096c38dd86af43689301	We matched 15 patients with non-dystrophic @PHENOTYPICFEATURE$ in NF-1 with patients with @DISEASE$ (ratio, 1:1) for age, sex, and degree of major deformity.	false
+eeb5b26db017947de082eb386f22555ff2c285dc	Good agreement was present between observers when classifying @PHENOTYPICFEATURE$ as @DISEASE$, MIA, and IA.	false
+7ea2f33d2d3c310610f4af930789feb6f9e417fc	We also review literature for reports of @DISEASE$ patients with gonadal @PHENOTYPICFEATURE$.	false
+8eaa8b96148d8e588a7fac5a4fb8c8d6769b388f	All patients had an American Spinal Injury Association impairment scale (@DISEASE$) classification of AIS D. SCI-related complications most commonly included: neuropathic pain (78%), spasticity (44%), and @PHENOTYPICFEATURE$ (78%).	false
+859c16fa9d77396158d603c65a38ed61bf114d9d	Within 2 years, following the introduction of 2 Shorthorn bulls from the same stud into an Australian Illawarra Shorthorn (@DISEASE$) herd, 16 calves were born with @PHENOTYPICFEATURE$.	false
+54b4c93e9839c15cde2aad43f1834904c30b1cb0	Forty-three @PHENOTYPICFEATURE$ (22 @DISEASE$ and 21 MIA) were examined.	false
+51db7fd89eddf1ff4abc2fba0f7f28796d5682a7	Though androgen insensitivity syndrome (@DISEASE$) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with @PHENOTYPICFEATURE$, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia.Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis.	false
+fd984edd7b4b3975aef49a33ef31a9279f328f4b	Though androgen insensitivity syndrome (@DISEASE$) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia.Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of @PHENOTYPICFEATURE$ may impede its identification through an accurate diagnosis.	false
+879025551d92cf72a970360f06545a82a3feafc6	Fifteen patients with non-dystrophic @PHENOTYPICFEATURE$ in NF-1 and 15 patients with @DISEASE$ underwent a one-stage posterior surgery with the pedicle screw system.	false
+556dae8396895138a8c63cd7afe011bae2a6c2ae	Also, there is no study that has directly compared the results of spinal deformity correction between non-dystrophic @PHENOTYPICFEATURE$ in NF-1 and adolescent idiopathic scoliosis (@DISEASE$).	false
+507a7456fee608f570806d71b1e11aecd81e2593	Risk of persistent or recurrent cervical neoplasia in patients with 'pure' adenocarcinoma-in-situ (@DISEASE$) or mixed AIS and high-grade cervical squamous @PHENOTYPICFEATURE$ (cervical intra-epithelial neoplasia grades 2 and 3 (CIN 2/3)): a population-based study.	false
+46ed4199c8d39fbdf66e3a1a673d983121ceb48a	Risk of persistent or recurrent cervical neoplasia in patients with 'pure' adenocarcinoma-in-situ (AIS) or mixed @DISEASE$ and high-grade cervical squamous @PHENOTYPICFEATURE$ (cervical intra-epithelial neoplasia grades 2 and 3 (CIN 2/3)): a population-based study.	false
+53676c7c5d7cba1a61a7896cb17be9b9b3f25661	Risk of persistent or recurrent cervical neoplasia in patients with 'pure' adenocarcinoma-in-situ (AIS) or mixed @DISEASE$ and high-grade cervical squamous neoplasia (cervical intra-epithelial @PHENOTYPICFEATURE$ grades 2 and 3 (CIN 2/3)): a population-based study.	false
+e01287a71bafe7e5bf9cd68dea455a4316f3ea30	Risk of persistent or recurrent cervical neoplasia in patients with 'pure' adenocarcinoma-in-situ (@DISEASE$) or mixed AIS and high-grade cervical squamous neoplasia (cervical intra-epithelial @PHENOTYPICFEATURE$ grades 2 and 3 (CIN 2/3)): a population-based study.	false
+68298f91845cd46bac41d037d61246e84b2d4a1a	Risk of persistent or recurrent cervical @PHENOTYPICFEATURE$ in patients with 'pure' adenocarcinoma-in-situ (@DISEASE$) or mixed AIS and high-grade cervical squamous neoplasia (cervical intra-epithelial neoplasia grades 2 and 3 (CIN 2/3)): a population-based study.	false
+88a10f3e92fa209b38b2771615142521a5194ba6	Risk of persistent or recurrent cervical @PHENOTYPICFEATURE$ in patients with 'pure' adenocarcinoma-in-situ (AIS) or mixed @DISEASE$ and high-grade cervical squamous neoplasia (cervical intra-epithelial neoplasia grades 2 and 3 (CIN 2/3)): a population-based study.	false
+06774a18e02206ab32f6a61615243b242885e953	@DISEASE$ infection in patients with vertigo and @PHENOTYPICFEATURE$.	false
+b99c630bc53e2a3fa1754a3f483462bb4d1666a4	Due to the high incidence of @DISEASE$, the ease with which it can be misdiagnosed, and its potential for causing irreversible neurologic or cardiac complications and fatalities if left untreated, all patients living in known epidemic areas who manifest intractable facial @PHENOTYPICFEATURE$, or what appears to be a case of temporomandibular joint syndrome that does not respond to therapy should be tested for Lyme Borelliosis.	false
+36765607e1fec8df74eda784a0bbea2061d2c2e9	In vivo confocal microscopy: a new possibility to confirm the diagnosis of @DISEASE$ @PHENOTYPICFEATURE$?	false
+02541debd843ee2cefb374e5a3b8b4e811fb903e	@DISEASE$ infection is an etiological factor which should be considered in patients suffering from vertigo and/or @PHENOTYPICFEATURE$ of unknown origin.	false
+34e85ca8bf76ed3ddf2dfb9288174e954d67a4c5	We report a case of unilateral @PHENOTYPICFEATURE$ due to @DISEASE$ and in a patient with haemophilia B and hepatitis C treated with alpha-interferon.	false
+e5990245f2b2fb0257432293d5345e9f5459874a	Both cats had signs of vestibular system involvement and @DISEASE$, and one had @PHENOTYPICFEATURE$ activity.	false
+580ebd7a84128a220995a4a158f765374d9bd596	Subcorneal pustular dermatosis (SPD) or @DISEASE$ is a rare, benign, chronic, sterile pustular eruption which is associated with various systemic diseases including immunoglobinopathies, @PHENOTYPICFEATURE$, and autoimmune disorders.	false
+edfa19ad6be1ae01675e83e0baa89728a14cf0a9	The patient with @DISEASE$ (Bardet-Biedl syndrome) experienced deep vein thrombosis, @PHENOTYPICFEATURE$ and sepsis, resulting in death.	false
+618996f21cebc63149e6a5f765326105b6a8ed4c	@PHENOTYPICFEATURE$ hearing loss in @DISEASE$.	false
+ed2e865d1d06ba0cb449896ecc06178845a66200	IMAGe, a new clinical association of intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and genital anomalies.	false
+903187fd2216afd92e44300f8dc42c31421695a8	He was suspected as IMAGE (Intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and Genital anomalies) syndrome.	false
+352c81e3bf57f9e2aec4290e4f5511f78709ba9b	IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and genital anomalies.	false
+e7e268c1409c96e121b83f3ca88233e710802a8d	Components of the syndrome are intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies.	false
+3254f5c0a07722f61ef5b0de434964f8a5512b2f	Though variable, this disorder mainly consists of Intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and Genital abnormalities.	false
+b43380eedd1a505da03c6eb2dd088a962ada9fc1	IMAGe syndrome (intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies) is an undergrowth developmental disorder with life-threatening consequences.	false
+e7311752cd38abb380238e6a1fada74262ed59b1	The IMAGe (intrauterine growth retardation, metaphyseal dysplasia, @DISEASE$, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, adrenal hypoplasia, and genital anomalies.	false
+e6f8ee21b19e4c2c9ec5366d8b80e53b9ba6b5cb	The IMAGe (intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, genital anomalies) association (online inheritance in man 300290) is a recently reported disorder comprising intrauterine growth retardation (IUGR), metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies.	false
+6413975ec154745899b3193c4f9c35ded0ab1d2c	IMAGe is a mnemonic acronym that stands for Intrauterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$, and Genital anomalies (OMIM 300290).	false
+2409fac74547dd4692eb4a180917c691ee273a62	Recently, an association between Intrauterine growth restriction, @PHENOTYPICFEATURE$, @DISEASE$, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described.	false
+517220061ba517c0093583f36f3c7a2cc930860f	IMAGe is a newly reported syndrome characterized by the association of intra-uterine growth retardation, @PHENOTYPICFEATURE$, @DISEASE$ and genital anomalies.	false
+444055a2f9d035649634413d1339fd91758f0107	@PHENOTYPICFEATURE$ in a pubertal patient with @DISEASE$ and R(831)X mutation of the androgen receptor gene.	false
+e38317b0984b07bda6ec79be89e3f2c2317aaa65	Improvement of rheumatoid arthritis and @DISEASE$ in a patient treated with the @PHENOTYPICFEATURE$ necrosis factor inhibitor, etanercept.	false
+e3a6439a29066d22b87d95de8a8c0aa4f188bf1f	[A case of hepatocellular carcinoma with @DISEASE$ showing marked reduction of @PHENOTYPICFEATURE$ by oral administration of UFT-E].	false
+f0bcc970b8b1be4fc6468609a11c8d1cfaf1d85a	Alcohol consumption of at least 20 g/week, smoking, positive markers of viral or @DISEASE$, a previous diagnosis of acute or chronic liver disease, @PHENOTYPICFEATURE$, glomerulopathies, neoplasia, cardiovascular disease, and intake of contraceptives or hepatotoxic drugs were the exclusion criteria.	false
+e1a03480b7306f274bfab79f508055e11eda021e	Alcohol consumption of at least 20 g/week, smoking, positive markers of viral or @DISEASE$, a previous diagnosis of acute or chronic liver disease, renal failure, glomerulopathies, @PHENOTYPICFEATURE$, cardiovascular disease, and intake of contraceptives or hepatotoxic drugs were the exclusion criteria.	false
+3ae048b6866f14afe33c46b8e71e5a823f282a44	The association between Cytotoxic T lymphocyte associated antigen-4, Fas, @PHENOTYPICFEATURE$ necrosis factor-? gene polymorphisms and @DISEASE$: a meta-analysis.	false
+44c2d53b5fb77fa53e006259363f1096211d12a3	The development of a primary hepatic @PHENOTYPICFEATURE$ associated with @DISEASE$ (AIH) has been rarely reported.	false
+b2e99c0998ca60f703f5cb0e25c4040051420119	Intrahepatic cholangitis and arteritis after transcatheter arterial embolization in a patient with @PHENOTYPICFEATURE$-like lesion-associated @DISEASE$.	false
+eea5771e69bb8c2caf7a1a9802cef81b0f9f02e3	@DISEASE$ in Brazilian patients is not linked to @PHENOTYPICFEATURE$ necrosis factor alpha polymorphisms at position -308.	false
+3152b2b7b5ba54bce514dccc55fe8983d6765bc0	The @PHENOTYPICFEATURE$ patients without HCC, patients with @DISEASE$ or toxic hepatitis, patients who refused to be investigated or too ill to be investigated.	false
+443a54219c896b9170123addd00727ab54fe5479	Rejection, lymphoproliferative disease, @PHENOTYPICFEATURE$, metabolic syndrome, recurrent disease, 'de novo' @DISEASE$ and malignancy require careful surveillance and prompt action in adults and children after LT.	false
+1b275d7c136a5588fbcaf4338e7ad110e1e188b5	The surgically removed @PHENOTYPICFEATURE$ was histologically a benign mesenteric multicystic lymphangioma.Simultaneously, celiac disease was diagnosed.Gluten-free diet resulted in a significant improvement of celiac disease,but not of @DISEASE$.	false
+41e93fa774d1a5adb8d010a90ec961f6ed398b67	Children with @DISEASE$ are at a risk for @PHENOTYPICFEATURE$.	false
+e01bd38a552011da625e26502f2539b890479dcb	By contrast, H. pylori (OR 1.86; 99.5% CI 1.01 to 3.45), unmarried status (OR 4.22; 99.5% CI 2.02 to 8.81), @PHENOTYPICFEATURE$ (OR 2.56; 99.5% CI 1.29 to 5.07) and depression (OR 2.34; 99.5% CI 1.04 to 5.36) were associated with @DISEASE$.	false
+988db57d43a66f1cb799032eac1b4f71cf2566f9	An increased propensity to have @DISEASE$ was seen in those individuals with higher levels of psychological distress (OR 3; 95% CI 1-4 in the highest category, test for trend P < 0.001) and @PHENOTYPICFEATURE$ (OR 5; 95% CI 2-94 in the highest category, test for trend P < 0.001).	false
+1390b9c8b2261cf9f0a78a0b908f18a716ebac54	@PHENOTYPICFEATURE$, @DISEASE$ and dementia in adults.	false
+096eafbd7d7fdcced14b4b7b1d77d5864c5fa934	However, @PHENOTYPICFEATURE$ has not previously been described in chronic @DISEASE$ patients.	false
+b8362a095bbeb5ca0a38d0d01fd6d7129370c9e4	defective beak and legs, @DISEASE$, @PHENOTYPICFEATURE$ and anophthalmia.	false
+c201562de307637697b6444f0226ca4a861b0e53	One had cleft lip, cleft palate, @PHENOTYPICFEATURE$, microphthalmia, intraventricular hemorrhage, and @DISEASE$.	false
+6ffeb63c6504dad0bebbf4b0ed255f4620a2d7dd	One had cleft lip, cleft palate, cataract, @PHENOTYPICFEATURE$, intraventricular hemorrhage, and @DISEASE$.	false
+6e3aed23432161d551200f2c31de00e86cf76e47	The variables considered were @PHENOTYPICFEATURE$, @DISEASE$, hematoma location, midline shift, and hematoma density.	false
+6007aba27d76acefc5d1a5d25965a2f085e82e9e	Fetal @DISEASE$ and @PHENOTYPICFEATURE$ associated with maternal use of isotretinoin.	false
+d9a9573a3eee4312b3204d33147c9ecb6f5ebb32	Bone fragility, craniosynostosis, @PHENOTYPICFEATURE$, @DISEASE$, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.	false
+b6a38b4c8f89fefda260a7a0adde832dd1b3e620	The occurrence of @PHENOTYPICFEATURE$, microphthalmia, microcephaly, intracranial calcification, and @DISEASE$ was also recorded.	false
+4aaf61af648400e0189fdec53903983771fc9276	The occurrence of cataract, @PHENOTYPICFEATURE$, microcephaly, intracranial calcification, and @DISEASE$ was also recorded.	false
+b44746ba0f9575b71b644bc73ba22dc8dd5bd397	We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of @PHENOTYPICFEATURE$, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, @DISEASE$, atrial septal defect, patent ductus arteriosus, and mild mental retardation.	false
+3c97594b9d6b8674552d42e6cfe8b32ac1a05482	We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, @PHENOTYPICFEATURE$, mild glaucoma, Dandy-Walker malformation, @DISEASE$, atrial septal defect, patent ductus arteriosus, and mild mental retardation.	false
+3ef0afcdab582f12750665ee7fc4fdb70575fb64	Anterior location was associated with facial @PHENOTYPICFEATURE$/numbness on presentation (P < 0.0001), middle location with hearing loss/vestibular dysfunction (P?= 0.0035), and posterior with @DISEASE$ (P?= 0.0190), headache (P?=?0.0039), and vertigo (P?= 0.0265).	false
+b2b8ac180d116c9e208e6bc357399ca657d69612	Anterior location was associated with facial pain/numbness on presentation (P < 0.0001), middle location with hearing loss/@PHENOTYPICFEATURE$ (P?= 0.0035), and posterior with @DISEASE$ (P?= 0.0190), headache (P?=?0.0039), and vertigo (P?= 0.0265).	false
+822938c2a151fdaa7c67e1c5f6e6ef4ed81a2a96	We describe two sisters affected by @DISEASE$ associated with microcephaly, @PHENOTYPICFEATURE$, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures.	false
+1eb7657c157b72b7ab0804407bf40af0865682cc	Pediatric-onset CVID patients had more frequent diagnoses of otitis media, developmental delay, and @PHENOTYPICFEATURE$ compared with adult-onset @DISEASE$ patients.	false
+022a599012aa6717ff99950eaeef9b0a3a66761c	Pediatric-onset @DISEASE$ patients had more frequent diagnoses of otitis media, developmental delay, and @PHENOTYPICFEATURE$ compared with adult-onset CVID patients.	false
+dbe1e094e9afc8a0ee98635ae09d149fd2ea8077	We present a unique case of lower @PHENOTYPICFEATURE$ in a patient with @DISEASE$ which is sensitive to visual stimuli in the peripersonal space and light touch.	false
+fa9aa1331b2aa4399c5cabeed3a1e5fb1de98132	In our series, clinical presentation at diagnosis were: recurrent respiratory infections in selective IgA deficiency and common variable immunodeficiency (@DISEASE$) patients, @PHENOTYPICFEATURE$ and opportunistic infections (mainly viral infections) in patients with severe combined immunodeficiency (SCID), skin abscesses (Staphylococcus aureus, Serratia spp.) and complicated pneumonia (Aspergillus spp., Rhodococcus equi) in chronic granulomatous disease, congenital heart disease and consistent phenotype in 22q11 deletion syndrome, skin abscesses and ecthyma gangrenosum in severe congenital neutropenia and opportunistic infections and sepsis (Pseudomonas aeruginosa) in children with X-linked agammaglobulinaemia (XLA).	false
+7aaa2934944f9d41bac9eaa46294358082e45b2f	In our series, clinical presentation at diagnosis were: recurrent respiratory infections in selective IgA deficiency and @DISEASE$ (CVID) patients, @PHENOTYPICFEATURE$ and opportunistic infections (mainly viral infections) in patients with severe combined immunodeficiency (SCID), skin abscesses (Staphylococcus aureus, Serratia spp.) and complicated pneumonia (Aspergillus spp., Rhodococcus equi) in chronic granulomatous disease, congenital heart disease and consistent phenotype in 22q11 deletion syndrome, skin abscesses and ecthyma gangrenosum in severe congenital neutropenia and opportunistic infections and sepsis (Pseudomonas aeruginosa) in children with X-linked agammaglobulinaemia (XLA).	false
+87291a1aeba470b6c9f2d0b8f06962204e15aff7	@PHENOTYPICFEATURE$ in @DISEASE$ (Krabbe's disease).	false
+78e5df71696c4580f3de71950d37763370bf45ce	Adult-onset @DISEASE$ presenting with an isolated form of @PHENOTYPICFEATURE$.	false
+a45b09a2aadbbd154682f1e9434eaade54f78122	@PHENOTYPICFEATURE$ in @DISEASE$: effect of hematopoietic stem cell transplantation.	false
+82cc909e3c2744c018c568ebb4edb804c829e5aa	An asymptomatic child with antenatally diagnosed @DISEASE$ was found to have electrodiagnostic evidence of @PHENOTYPICFEATURE$ at 7 weeks of age.	false
+fe793a7716743834007f2f398dee5bf3ab906b40	@PHENOTYPICFEATURE$ and central nervous system lesions in canine @DISEASE$ (Krabbe's disease).	false
+82c9f8b2d5c43cb3f7d5b119cc66e389523e8729	Serial nerve conduction studies are useful in following the course of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+9d7aed700ec7fcbde7fb69e38873bbaf3f052b2c	@DISEASE$ should be considered in the differential diagnosis of early infantile @PHENOTYPICFEATURE$.	false
+0349d67a5cc38edef367912cbe257dfdf5e3b691	These observations suggest that @PHENOTYPICFEATURE$ in adult-onset @DISEASE$ has variable clinical and pathological characteristics, different from those described in the classic form.	false
+9c66635ed427462c2074f7bf5d5c50748c1542f8	[Clinical and genetic analysis of a patient with @DISEASE$ presented as @PHENOTYPICFEATURE$].	false
+ce263df0ad87b306d6ee02415214eaa60d954b10	@PHENOTYPICFEATURE$ in late-onset @DISEASE$: report of three cases.	false
+a2bbf57bc58bb8d02ea9d80dde838d28f7ceb0bd	The results indicate that @DISEASE$ patients have more severe motor impairment, hyposmia, depression, anxiety, @PHENOTYPICFEATURE$, and lower HrQoL than MSA-C patients.	false
+db1a8afa07d6f25e6fdcb617819b3bd741561b78	PLAG1 (@DISEASE$ gene 1) is a proto-oncogene whose overexpression is a crucial oncogenic event in salivary gland pleomorphic adenomas (PA), and in @PHENOTYPICFEATURE$ ex-PA.	false
+bd9ac6b5dcd04e148e7bcef293b58d213ff0ea2b	LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, myoadenylate deaminase deficiency, @DISEASE$, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich @PHENOTYPICFEATURE$.	false
+b8a09aa9a95a76e075b032a0a8547a4e1458921a	4 subjects (11%) had mutations in the GAA gene (@DISEASE$), and 3 (8%) had Frataxin repeat expansions (Friedreich's @PHENOTYPICFEATURE$).	false
+56a28e7a913f547913efde5d7998f358a18d92e6	In addition, iPSC-CMs have shown some features of the respective phenotypes for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), LEOPARD syndrome, @DISEASE$, and Friedriech's @PHENOTYPICFEATURE$.	false
+1a6c2a35694f6852cb39faf06fc826209b90f039	Lysosomal glycogen storage disease without @DISEASE$ is characterized by the triad of clinical manifestations (hypertrophic cardiomyopathy), @PHENOTYPICFEATURE$, and mild myopathy), morphologic findings (glycogen storage, glycogenosomes, and autophagic vacuoles), and normal glycolytic enzyme activities.	false
+c50b87119196bc794afdbebbaf72e1abda1cb124	Pompe disease or @DISEASE$ (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+c424be9139b34d5e1a82af3d243b6674a3be8248	@DISEASE$ or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, @PHENOTYPICFEATURE$, or even death by respiratory failure.	false
+dc94b4feaa990aa2264b69b51a8c5072c56afb22	@PHENOTYPICFEATURE$ and glycogen accumulation in vascular smooth muscle fibres have been described in @DISEASE$.	false
+1d9716492ad03d05ffd969a944167b6670b0ed33	So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile @DISEASE$ (Pompe's disease), myoadenylate-deaminase deficiency, mitochondriopathy, Barth syndrome, Friedreich @PHENOTYPICFEATURE$, and Charcot-Marie-Tooth disease.	false
+b056638426dedc047e869a2b5e7601181bc2b314	Lastly, the relatively rare, but important, complications of @DISEASE$, infrapatellar @PHENOTYPICFEATURE$ syndrome, and patella infra were reviewed.	false
+a0fbc7b91f5aa3a59752a1adb593d32f5cecae59	There were four failures due to transverse tarsal joint @PHENOTYPICFEATURE$, overcorrection, and @DISEASE$.	false
+09e71c42cce8e4af0acedbd1e4d0ce5b81fc011f	Eighteen patients with a @PHENOTYPICFEATURE$ had HO, extremity fracture, peripheral nerve injury or @DISEASE$.	false
+e8f32cc34ee0f8906e9814a32140f9b0da701712	Typical diabetes associated hand condition include the palmar flexor tenosynovitis, Dupuytren's @PHENOTYPICFEATURE$, syndrome of limited joint mobility, carpal tunnel syndrome, Charcot arthropathy and @DISEASE$.	false
+b3d1e3ed67a29529b65c23e19e74e07ff9a25346	If @DISEASE$ is not recognized an irreversible stage may be reached, with atrophic pale, cool, and anhidrotic skin, @PHENOTYPICFEATURE$ and diffuse osteoporosis.	false
+0ef716330c03178c6cd2d0b8412f1b6aeb3dc6a3	Cases of @DISEASE$ are also described in association with @PHENOTYPICFEATURE$.	false
+c72884ff5d0dd86685d12c08fb7d9d9e4fadd815	@DISEASE$ associated with @PHENOTYPICFEATURE$ infiltration of the stellate ganglion.	false
+b29fc63358c28067639048a7843b3ba644131bbc	These include excessive inflammation, hematoma, ischemic skin necrosis, infection, granuloma formation, transient paresthesia, scar @PHENOTYPICFEATURE$, persistent proximal interphalangeal (PIP) flexion contracture, distal interphalangeal (DIP) hyperextension deformity, joint stiffness, poor flexion and grip strength, pain, and @DISEASE$ (RSD).	false
+b7f51d96779bb37d17e0f6374aca69949d8502c6	These include excessive inflammation, hematoma, ischemic skin necrosis, infection, granuloma formation, transient paresthesia, scar contracture, persistent proximal interphalangeal (PIP) @PHENOTYPICFEATURE$, distal interphalangeal (DIP) hyperextension deformity, joint stiffness, poor flexion and grip strength, pain, and @DISEASE$ (RSD).	false
+9842bde905f1e2bb9c5893a769992a7dc396634c	@DISEASE$, patella infera @PHENOTYPICFEATURE$ syndrome, and loss of motion following anterior cruciate ligament surgery.	false
+90e25d653853070e9cbf2700a41e66ae1c6f1707	This article reviews the literature and approach to the compartment syndrome and Volkmann @PHENOTYPICFEATURE$, @DISEASE$ and causalgia, fracture blisters, and gas gangrene.	false
+aece5f45e177a48b5ac7ef1c1e1f8aa8b2e6883d	Grade 3 and 4 toxic effects were: 5 grade 3 stomatitis, 3 grade 3 skin, 1 each grade 4 neutropenia and @DISEASE$ admits for infection, and no neutropenic @PHENOTYPICFEATURE$; nausea and vomiting were uncommon in 204 cycles to ovarian cancer patients.	false
+a411973ce2e26b42597581599e5e63aa7277073c	@DISEASE$ (DBA) is a rare @PHENOTYPICFEATURE$ genetic disease characterized by severe anemia, reduction or absence of erythroid progenitors, and pro-apoptoptic hematopoiesis, which culminates in bone marrow failure.	false
+0ecf2d05cec1431073371aaad449a9cb7bda634c	A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate @PHENOTYPICFEATURE$, and/or features consistent with @DISEASE$.	false
+90008c524b901af751c50b731b8574d7f6d58ae7	We report on a male premature infant with hypoplastic abdominal wall musculature, urinary tract anomalies and kryptorchism--the main features of @DISEASE$. Furthermore the patient showed cardiac anomalies, urinary tract anomalies, limb defects, @PHENOTYPICFEATURE$ and anal atresia, which belong to the main features of VACTERL-association.	false
+4352c16c5d5591b1c45a68b4f2bfca0f000d92fc	Treatment is often initiated at diagnosis in infants and toddlers who have a major @PHENOTYPICFEATURE$ or the @DISEASE$.	false
+df859f19d5818b7cb1ad9c4152904ced56709483	A 2-month-old with V600E mutant hypothalamic/chiasmatic glioma progressed on chemotherapy resulting in profound @PHENOTYPICFEATURE$, massive ascites, and @DISEASE$.	false
+85304331cd72e177b2c8ae390572b233f49e242f	We report the observation of a patient with @DISEASE$, in whom ventricular tachycardia, and dilated hypokinetic cardiomyopathy were in the foreground of the @PHENOTYPICFEATURE$.	false
+6f2a29a906d22abaf5ab3bcb3c02c6dfb7ab7bb1	Serious @PHENOTYPICFEATURE$ and asymptomatic hyperkinetic heart function are frequently seen in patients with polymyositis/@DISEASE$ (PM).	false
+62a0efa16c53f7ab7d0b5aa0a27a993aa5b88f5a	@PHENOTYPICFEATURE$ (PTC) patients with distant metastasis (@DISEASE$) have variable clinical courses and therapeutic outcomes.	false
+3fe919c95dcad3f9457f7fe88a4ee10c2646a8e3	Type 1 diabetes mellitus (@DISEASE$) patients surviving myocardial infarction (MI) manifest an increased incidence of subsequent @PHENOTYPICFEATURE$ (HF).	false
+568622bfb7929b125e27519e5d13b8c160508f75	A 64-year old man with @DISEASE$ developed rapid-onset paraparesia and @PHENOTYPICFEATURE$.	false
+b7ded59c378120b9febc3345adbababfc55d4a49	@PHENOTYPICFEATURE$ in polymyositis/@DISEASE$.	false
+062e65f989dabc6755512bb9fa53a34e31a23f8c	A patient with @DISEASE$ who was referred to our institution with severe @PHENOTYPICFEATURE$ is described.	false
+12b999ddead6c6a9292908f0fea5fb63e64c39f5	The study objective was in a controlled setting to describe @PHENOTYPICFEATURE$ by noninvasive methods in a cohort of patients with polymyositis (PM) or dermatomyositis (@DISEASE$) and to identify predictors for cardiac dysfunction.	false
+64e28dc0fc539e317bd47cdfbe9eb035d8746602	The study objective was in a controlled setting to describe @PHENOTYPICFEATURE$ by noninvasive methods in a cohort of patients with polymyositis (PM) or @DISEASE$ (DM) and to identify predictors for cardiac dysfunction.	false
+d96880b70327d9d27ae0084e0cc9605b35ad7538	We report a 39-year-old woman with overlap syndrome of systemic sclerosis and @DISEASE$ who died of @PHENOTYPICFEATURE$.	false
+ce31ba64b9845624b1cf4e7d7b3b8babe3589049	Patients with PM or @DISEASE$ had an increased prevalence of @PHENOTYPICFEATURE$ compared to HCs.	false
+7da622a007abc31571ae1c251f3d93edf32417c3	We present a 14-year-old boy with a severe form of @DISEASE$, complicated by @PHENOTYPICFEATURE$.	false
+5bf3cbaafd8242dc7632d25eafce43f17bf0e75e	@DISEASE$ complicated by @PHENOTYPICFEATURE$.	false
+4935e73165bf163ff2cf2a725ef71cd8aa458bbd	Different sets of DNM2 mutations are linked to dominant intermediate Charcot-Marie-Tooth neuropathy type B, a motor and @PHENOTYPICFEATURE$ affecting primarily peripheral nerves, or @DISEASE$ (CNM) presenting with primary damage in skeletal muscles.	false
+7573f0e769f8f33f01e4af76cf1a0376151eb3ce	Other lesions like inclusion cyst, dermoid cyst, seborrheic keratosis, @DISEASE$, @PHENOTYPICFEATURE$ and molluscum contagiosum are also included in our study.	false
+82f77277b282da1b85e22f379d3962efb8b638b6	Other lesions like inclusion cyst, @PHENOTYPICFEATURE$, seborrheic keratosis, @DISEASE$, nevus and molluscum contagiosum are also included in our study.	false
+49d3a3229dbd9815b825414b54073751d0ef8fe9	Since then, approximately ninety cases of pilomatrix carcinoma have been reported.We report the case of a 41 year old @PHENOTYPICFEATURE$ male who had a longstanding lesion in the left neck for approximately fifteen years previously diagnosed as a @DISEASE$.	false
+c8b6600e0b8933e5c892e6ca31472a7b0c0854a3	A 34-year-old woman who had a history of relapsing-remitting multiple sclerosis for the last 15-years presented with acute sensory loss and @PHENOTYPICFEATURE$ in her left lower limb and her spinal magnetic resonance imaging study revealed an intradural spinal cord tumor in the lumbar spine, further diagnosed as @DISEASE$.	false
+d3438c69a48e4613764a0666da3bc27244a08ada	@DISEASE$ is a rare autosomal recessive disorder that usually presents with variable @PHENOTYPICFEATURE$, prolonged prothrombin time and partial thromboplastin time.	false
+ba658966b173272820091af9991424e6d8f8b50c	: @DISEASE$ is a rare coagulation defect characterized by variable @PHENOTYPICFEATURE$.	false
+a948d777f72e9985105bb02aebdc44e28a2ba785	Five patients exhibited @PHENOTYPICFEATURE$, and one patient experienced normal development after surgical removal of his @DISEASE$.	false
+6d9438da5b93435c8a42035ff46021828ce1613a	MRI revealed multiple brain tumors in the 3rd and the lateral ventricles which are considered to be @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7f83863f14a9bc7cddbccde16c259017523b6493	We present an adolescent case with a history of fever, vomiting and @PHENOTYPICFEATURE$, whose diagnosis was a central nervous system infection by Bartonella henselae associated with a @DISEASE$.	false
+ddbf2f57428d464c1a364caf97ae076205a8d400	The neuroradiologic images (MRI) showed besides @PHENOTYPICFEATURE$ a tumor located at the left ventricular atrium (@DISEASE$).	false
+7d7b80ede187c56e19493694836fb6398da4112a	A case is presented of a patient with dysphonia, hearing loss and @PHENOTYPICFEATURE$ due to vestibulocochlear and vagal nerve compression by @DISEASE$ in the cerebellopontine angle.	false
+c4befcb1dd3cdab23513398ef430aa708f589812	We report three cases of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+775711baa19dc4c243e89828c36d5cbdf58f4597	Twenty pediatric patients with @DISEASE$ were found; all patients (38/40 ears) had inner @PHENOTYPICFEATURE$.	false
+7d83302b6930a005c7b621b1acc1914834aaa673	Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital @PHENOTYPICFEATURE$, and midfacial hypoplasia and is related to the acrocephalosyndactylies (@DISEASE$) with limb abnormalities.	false
+6a346dbcdbaf5596f969c7389e432972e69f9cb2	Although @PHENOTYPICFEATURE$ is common in @DISEASE$ there are contradicting reports regarding the cause of this hearing loss.	false
+15d8001fd469bb432bf7813e11c0fc0081803fb6	To identify the occurrence of inner ear structural anomalies and @PHENOTYPICFEATURE$ (CHL) in children with @DISEASE$.	false
+66dc53ebacb4fa27b8d38e120ebc8c40f6ba05db	These cohorts were identified in 2006 through 2011 and were followed in 31 December 2012, for first ever occurrence of acute coronary syndromes (@DISEASE$), deep venous @PHENOTYPICFEATURE$, pulmonary embolism and stroke, respectively.	false
+33e21e1aafab87cf477f8a1bbd0cd365b43f74ad	@DISEASE$ is characterized by midface hypoplasia, syndactyly of the hands and feet, @PHENOTYPICFEATURE$ of eyes, steep and flat frontal bones, and premature union of cranial sutures.	false
+d642e70a454a5641c761fa622ee9afcce6110d0b	An illustrative case of a 5(1/2)-year-old girl with @DISEASE$ is presented wherein her ventilatory obstruction and @PHENOTYPICFEATURE$ were significantly improved.	false
+34080f612eefd8b9fee06e175eb83566be2a6df1	Inner ear anomalies and @PHENOTYPICFEATURE$ in children with @DISEASE$: an overlooked otologic aspect.	false
+92777432c3633fd847b8fbf6aab07b1d82dba007	Inner @PHENOTYPICFEATURE$ and conductive hearing loss in children with @DISEASE$: an overlooked otologic aspect.	false
+188228fc7a417e928a0e5be74e290a450ed33f46	@DISEASE$ and hearing loss with @PHENOTYPICFEATURE$: a case report and literature review.	false
+9b0a0842ebe92e06f50e34c4070411788f92fb2f	One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and @PHENOTYPICFEATURE$ (vocal cord and pharyngeal weakness with @DISEASE$ [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree.	false
+dead71c27dd834fb29a23362bd6713bd7ae89e8d	Computational analysis of these microRNAs and their targets indicated that arterial highly expressed microRNAs were overrepresented for functional terms like hematopoiesis and diseases like Crohn's Disease and leukemia; while venous highly expressed microRNAs were enriched for cell differentiation function, and diseases like @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c1e4f8528fa41e47908e52428579d1fb0a896429	The p.S85C MATR3 variant was previously associated to a different phenotype, namely a @DISEASE$ associated with dysphagia and @PHENOTYPICFEATURE$.	false
+77ca50ab75085eb10cc86c86ce6b160f3d1dc0cc	Her 66-year-old sister has a mild @DISEASE$, supraventricular tachycardia and @PHENOTYPICFEATURE$.	false
+5d606b03000a176c10dc603379221231e540707f	After four months of therapy with @DISEASE$, one patient was seizure free, four had a @PHENOTYPICFEATURE$ reduction ?50%, and one showed a worsening in seizure frequency <50%.	false
+1ebcb7145d09eebade4d1b9324195c446d56b256	After four months of therapy with @DISEASE$, one patient was @PHENOTYPICFEATURE$ free, four had a seizure reduction ?50%, and one showed a worsening in seizure frequency <50%.	false
+402747a0a8fcc2f7f0f0c4fcbbe3229dbf870eac	After four months of therapy with @DISEASE$, one patient was seizure free, four had a seizure reduction ?50%, and one showed a worsening in @PHENOTYPICFEATURE$ frequency <50%.	false
+37884310c5bb47d537e1656ecf249eca7006d14e	The commonest indications for craniotomy were glioblastoma (N.=14 vs. N.=12 vs. N.=15), meningiomas (N.=9 vs. N.=7 vs. N.=10), low-grade gliomas (N.=6 vs. N.=13 vs. N.=6) and brain metastases (N.=5 vs. N.=4 vs. N.=5). 1 LEV/@DISEASE$ patient (2%) and 4 PHT patients (4.5%) had a @PHENOTYPICFEATURE$ despite prophylaxis.	false
+e68ca819a335d6cc978d2338f5305e7147d90ee4	LEV alone and in combination with @DISEASE$ for patients without and with symptomatic epilepsy as @PHENOTYPICFEATURE$ prophylaxis provides a safe and feasible alternative to PHT.	false
+b95ed8837c7808ac2a68c110b248c4d05f8284b4	Furthermore, the AEs coordination abnormal/@PHENOTYPICFEATURE$ and diplopia were significantly more frequently observed in patients treated with OXC compared to patients treated with @DISEASE$ and ESL.	false
+aea07b90763fccf35fdd09dfec2843c6314a955c	Twenty-four-hour @PHENOTYPICFEATURE$ freedom was insignificantly higher in SVA (20, 66.6%) compared with @DISEASE$ group (15, 45.5%).	false
+ddb2332d9b4adbd0536b9cc207ef960af4d55067	Interestingly, five patients out of 86 achieved @PHENOTYPICFEATURE$ freedom for at least one year and progressively switched to monotherapy with @DISEASE$, and all five remained seizure-free at follow-up (6-48months).	false
+28a914de3e049524a7bedc5e3f3684040db92531	Interestingly, five patients out of 86 achieved seizure freedom for at least one year and progressively switched to monotherapy with @DISEASE$, and all five remained @PHENOTYPICFEATURE$-free at follow-up (6-48months).	false
+9f73eab5f0b1bdac3445ec98f31f1fadf2b8b145	Twenty-four hour @PHENOTYPICFEATURE$ freedom was higher in SVA (20, 66.6%) compared with @DISEASE$ group (15, 45.5%), but this difference was not statistically significant.	false
+7035f9234109ea8d0cf65e89a17795e0faebf722	@DISEASE$ patients were @PHENOTYPICFEATURE$-free at 12?months of follow-up while seizure freedom was achieved by 17/24 (70.8%) patients in LEV group.	false
+24663ed2c2a02b76372f2b0d7911b7e057180ce6	@DISEASE$ patients were seizure-free at 12?months of follow-up while @PHENOTYPICFEATURE$ freedom was achieved by 17/24 (70.8%) patients in LEV group.	false
+34ea4dee7851fc7ea920c11c052c0d71f3c95b24	The number of AEs significantly associated with @DISEASE$ increased with increasing dose: one at 200 mg/day (dizziness); six at 400 mg/day (dizziness, vertigo, abnormal coordination, abnormal vision, nausea, and vomiting); nine at 600 mg/day (dizziness, vertigo, @PHENOTYPICFEATURE$, balance disorder, diplopia, fatigue, nausea, vomiting, and tremor).	false
+6626c53f66ed7eeca8f41fb05b74e9cb411f4074	The concentrations of both serum markers, expressed in multiples of the median (MOM), in 16 women with the @DISEASE$ were compared with those in 10443 women without this syndrome who were screened for Down's syndrome and @PHENOTYPICFEATURE$.	false
+fd29723c05b962b06c4514829d17ec67be3d4101	Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, retinal dystrophy and @DISEASE$ (a cystic kidney disease).	false
+14944362c5f4352643aedc1e5f4907e4d35571bf	Joubert syndrome and related diseases (JSRD) are cerebello-oculo-renal syndromes with phenotypes including @PHENOTYPICFEATURE$, retinal dystrophy, and @DISEASE$ (a cystic kidney disease).	false
+d628b071d2688de23251b3e04e8dcbe3ff62a277	A 70-year-old man, with previously diagnosed @DISEASE$ and atopic dermatitis and @PHENOTYPICFEATURE$, presented 6 months after right penetrating keratoplasty with white multilobular nodules of the right limbus.	false
+10189e1d5b0fe60df08b3396c7f8738e5715825a	@PHENOTYPICFEATURE$, fibrous dysplasia, @DISEASE$, and metastasis arise within the clivus.	false
+53b22325c44934654ef498e67b647524b3802d35	Histopathology of the breast and @PHENOTYPICFEATURE$ showed plasma cells consistent with the diagnosis of @DISEASE$.	false
+482a3f0c9f0939e67dc783abd88c076edef0df05	Thus, many peptide-based drugs are currently commercially available for the treatment of numerous ailments, such as hepatitis C, @DISEASE$, @PHENOTYPICFEATURE$, and diabetes.	false
+eacf9fd5218f8eb0d961619f7dc4c1a1b5aa03c0	[Analysis of a case of @DISEASE$ with late dissemination of @PHENOTYPICFEATURE$].	false
+a70be32785793fbc58535a87060b96bdf725f078	Forty cases were primary malignant bone neoplasms, including @DISEASE$, lymphoma, Ewing's sarcoma, chondrosarcoma, ameloblastoma, @PHENOTYPICFEATURE$, neurofibrosarcoma, and unclassified high grade sarcoma.	false
+59c05a69f928f89796b9cd71b56ea9e147c20d5e	Differential diagnosis includes @PHENOTYPICFEATURE$, osteosarcoma, carcinoma nasopharynx, meningioma, metastatic carcinoma, lymphoma, and @DISEASE$.	false
+2e0e482c5fbfe3bfcd1e175c7a3fa65075a9e188	Analysis of clonality using X-linked polymorphisms in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b04ad34ba650baed36b5b8d1f1c568f63e0788c4	To do this, many peptide-based drugs are commercially available for the treatment of numerous diseases, such as hepatitis C, @DISEASE$, @PHENOTYPICFEATURE$ and diabetes.	false
+18bf3b40f443a38f265337060458979ca87505cb	Response to adriamycin and CCNU in a patient with IgD @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fd429d6fff5718c2c60a644bfefbb86cda12fbf8	MKS1 mutations cause @DISEASE$ with @PHENOTYPICFEATURE$.	false
+f3aaaac4f76b67986051f0dd6de1bd68cd442ca6	@DISEASE$ (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and @PHENOTYPICFEATURE$, oculomotor apraxia, irregular breathing, developmental delay, and ataxia.	false
+00c8236e36f6af59abf5633b1f63d0ce42831555	@DISEASE$ (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and @PHENOTYPICFEATURE$, hypotonia, episodic hyperapnea and apnea and mental retardation.	false
+b456c3bc5c9a4fce0b3633c44c11abb0eb4dc093	We report a 5-month-old girl with @DISEASE$ in whom MRI shows both features typical of this condition and associated @PHENOTYPICFEATURE$.	false
+dd04d9ff4546317b80b8591e480d05c072b91b91	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, @PHENOTYPICFEATURE$, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, @DISEASE$, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+d8800e6823f40d635bab9841b8e93ae3798100e8	In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, @PHENOTYPICFEATURE$, achondroplasia, @DISEASE$, fetal alcohol spectrum disorders, and congenital Zika syndrome.	false
+02ac085ce3a48bf20a43b3fc5f27ac04a3d67a93	Importantly, a recent study linked mutations in ARL13B to a classical form of @DISEASE$ (JS), an autosomal recessive disorder characterized by a distinctive @PHENOTYPICFEATURE$.	false
+c1864b76332a54c8e345dfd926e61b54d9927016	@DISEASE$ (JBTS) and related disorders are defined by @PHENOTYPICFEATURE$ (molar tooth sign), together with neurological symptoms of variable expressivity.	false
+0bc92783b4a3e61bc7f13e7c95158baf2be55f73	@DISEASE$ with associated @PHENOTYPICFEATURE$.	false
+895ab21e1fff6f13cd748c1b6a2684c9ae8e66b8	To our knowledge, this is the first patient with @DISEASE$ and @PHENOTYPICFEATURE$ where a potentially causal genotype is provided.	false
+9c22c93860397a18e767a1777868fbd26e7012bf	@PHENOTYPICFEATURE$ are uncommon and are usually associated with Dandy-Walker continuum, @DISEASE$, rhombencephalosynapsis, lissencephaly, Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, congenital cytomegalovirus infection to name a few.1,2	false
+a4fab086c810b0d2489d129c7dba2550db063f61	Congenital renal dysplasia, retinal dysplasia and @PHENOTYPICFEATURE$ associated with hyperprolinuria and @DISEASE$-oh-prolinuria.	false
+f14a7f5943273062a17fcf94cf1ef041901fb510	A 59 year old man with cirrhosis presented with @PHENOTYPICFEATURE$ and @DISEASE$-ammonaemia.	false
+adff47148af207033bde592a77588d06500cb4ed	Three had monoclonal @DISEASE$-immunoglobulinemia A. The course was marked by diffuse erythroderma in two cases and @PHENOTYPICFEATURE$ in three.	false
+a8769285173178815035bbe85aa54993f5a9b595	The disease is characterized by speech difficulties, lower limb spasticity and @DISEASE$-reflexia, mental retardation, @PHENOTYPICFEATURE$, and tremor.	false
+af0066c4e42c0136a368f723d74112760023ac4f	The disease is characterized by speech difficulties, lower limb spasticity and @DISEASE$-reflexia, @PHENOTYPICFEATURE$, cerebellar ataxia, and tremor.	false
+c3f6ee59287eead456bc3c30d47d6ecd59ba93f7	@DISEASE$ prolinuria and hyper-hydroxy prolinuria in children with @PHENOTYPICFEATURE$.	false
+bb896707731d799a1ee02b1f5e8e8226f257f120	Hyper prolinuria and @DISEASE$-hydroxy prolinuria in children with @PHENOTYPICFEATURE$.	false
+2ccab0e399bcc6574b9719c8c72a1f5763348319	The main clinical findings in affecteds individuals included cerebellar ataxia, and retinal degeneration along with @DISEASE$-reflexia (95%), slow saccades (85%) and @PHENOTYPICFEATURE$ (45%).	false
+ce775eff8e50f4c1348d758c4c4ba2a0ac1761f0	The main clinical findings in affecteds individuals included @PHENOTYPICFEATURE$, and retinal degeneration along with @DISEASE$-reflexia (95%), slow saccades (85%) and spasticity (45%).	false
+bb986e34bba47a0f82efba12a4bfa65b51aedb27	@DISEASE$ in @PHENOTYPICFEATURE$: periictal incomplete Kl?ver-Bucy syndrome.	false
+32083d69424ff3f3737f8d2bff505133e17b17b6	Pseudotumor cerebri presenting with @PHENOTYPICFEATURE$ and @DISEASE$-reflexia in a non-obese woman treated with sinus stenting.	false
+ac6937db491a0ac9491bc0a693c8879ed2bfb902	Central side effects could be avoided while a lasting decrease of @PHENOTYPICFEATURE$ and @DISEASE$-reflexia was achieved.	false
+64037b1374faef013145a3090b076f2649a91e44	Moreover, these findings suggest that different anatomical substrates may underlie the clinical phenomena of @DISEASE$-reflexia and @PHENOTYPICFEATURE$.	false
+c15a1587196a4282b66fd1ef5ec13b690cfe51d2	Porcine epidemic diarrhea (@DISEASE$) caused by virulent strains of porcine epidemic diarrhea virus (PEDV) is a?highly contagious enteric disease of swine characterized by severe enteritis, @PHENOTYPICFEATURE$, and watery diarrhea.	false
+4ec3a7b33df057dcf875076b8bc8a5fbe8f5b9df	Porcine epidemic diarrhea (@DISEASE$) is an acute and highly contagious enteric disease characterized by severe enteritis, @PHENOTYPICFEATURE$ and watery diarrhea in swine.	false
+66d87471c3e44895aad67bab956ce85538f35741	Porcine epidemic diarrhea (@DISEASE$) is a contagious intestinal disease caused by Porcine epidemic diarrhea virus (PEDV) that characterized by @PHENOTYPICFEATURE$, diarrhea, and dehydration.	false
+6caed5d1304318fd5528f7db5225e68dd28ece63	Later, a spontaneous collapse of the @DISEASE$ occurred but the FTMH was persistent with an associated @PHENOTYPICFEATURE$ of 20/200.	false
+cc9e14f28c9b56804e73b9e1f1bcfa4320a67f77	This is a 95-patient prospective study evaluating diagnostic and prognostic efficacy of erythrocyte sedimentation rate (ESR) for contiguous @DISEASE$ @PHENOTYPICFEATURE$.	false
+ae16e835f229ebb74e36a3edf22503029313e19f	Porcine epidemic diarrhea (@DISEASE$) is an intestinal infectious disease caused by porcine epidemic diarrhea virus (PEDV); manifestations of the disease are diarrhea, @PHENOTYPICFEATURE$ and dehydration.	false
+8398c3ef340aed9b00b45b55d24b8acfaebf13da	Lower @PHENOTYPICFEATURE$ is a common complaint in girls and young women presenting to a pediatric emergency department (@DISEASE$).	false
+045b126f6ff8a25d4a6177a4d1d9abc65275c379	@DISEASE$, characterized by acute diarrhea, @PHENOTYPICFEATURE$, dehydration, has caused serious economic losses in pig industry worldwide.	false
+3c50f5f8b77fb7288401d5a866f5eb6ba01b82c3	A retrospective study of data for 121 088 children who presented to a @DISEASE$ with @PHENOTYPICFEATURE$, fever, or respiratory complaints during a 5-year period was performed.	false
+8f94301d13c99e57a8c93c24029c820b908cf0f8	Porcine epidemic diarrhea (@DISEASE$), caused by porcine epidemic diarrhea virus (PEDV), is a highly contagious, acute enteric viral disease of swine characterized by @PHENOTYPICFEATURE$, watery diarrhea, dehydration and death.	false
+d5d120e881961d51488e0a83ba9625d3bb325fba	In addition, both sibs had fetal @PHENOTYPICFEATURE$, the first sib had coarctation of the aorta, and the second had polydactyly and @DISEASE$.	false
+2f3f06853e7164bff214b17ae7b7fa5935fa0d91	@PHENOTYPICFEATURE$ and @DISEASE$ granulomas.	false
+d4347c00e691966cf930693342309202214cfd12	[Cell distribution and macrophage function in bronchoalveolar lavage of patients with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+d7318651032e1bc1d4629079d4c6e2d44cae7c01	The step section preparation was especially useful for the detection of epithelioid granuloma and tumor tissue in patients with @DISEASE$ and carcinoma, respectively, while its contribution to the diagnosis of collagen-vascular disease, hypersensitivity pneumonitis, atypical @PHENOTYPICFEATURE$ and pneumoconiosis was relatively small.	false
+6595d091367038f816ce1edfb95440c8da5e12d4	Among eight patients with association of hyperprolactinemia and @PHENOTYPICFEATURE$, four have a probable diagnosis of hypothalamic-pituitary @DISEASE$, including 3 new cases.	false
+43833e8bf219c2f8fdd814800db9147ec3706734	Two thirds of the patients with pancreatic @DISEASE$ have @PHENOTYPICFEATURE$, and three quarters of them have bilateral hilar adenopathy.	false
+7eabe7d3c9dc092562e6fc0efd4158054a929b9c	Mutations of LAMB2 typically cause autosomal recessive @DISEASE$, a disorder characterized by congenital nephrotic syndrome, ocular and @PHENOTYPICFEATURE$, but may occasionally be associated with milder or oligosymptomatic disease variants.	false
+91d4427ee783c0436ea8af043f9e7ce28c4693a2	Inactivating mutations in three members of the SLC12 gene family result in Mendelian disease; @DISEASE$ type I in the case of SLC12A1, Gitelman syndrome for SLC12A3, and @PHENOTYPICFEATURE$ in the case of SLC12A6.	false
+bbee463beb5753735e995297f22cf0e0d7a47d2e	Oculocerebral @PHENOTYPICFEATURE$ syndrome associated with @DISEASE$.	false
+771978163bb4770eef47b34fb7fd1d3c2ef0b99d	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., @DISEASE$, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+e91880e50537c1f5c8ae8d9c45cab0e10cb3274f	We describe a 20-year-old man with tyrosinase-negative oculocutaneous @PHENOTYPICFEATURE$, mental retardation, epilepsy, sensorineural deafness, ataxia, and @DISEASE$.	false
+ed09a01f5dd834c26c7452c8701f0e33c0bb829a	Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (@DISEASE$) (OMIM: *610456) and @PHENOTYPICFEATURE$-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7 deletions, myelodysplastic syndrome (MDS), and bone marrow failure.	false
+742f534a9c7fe071bc86a104e326679ff5e11a1c	Mirror agnosia and @DISEASE$ @PHENOTYPICFEATURE$ constitute different parietal lobe disorders.	false
+b3cb6037474ae8dfb89ecff749cbcbd131061553	We also propose that mild @DISEASE$ @PHENOTYPICFEATURE$, consisting of misreaching errors when the controlesional hand is guided to a visual goal though a mirror, could correspond to OA with an isolated "hand effect".	false
+8ab799c2ce0d182014ef88b9f6f219a22860bd20	Auditory pathway changes @DISEASE$ overall disease progress in individuals with Friedreich @PHENOTYPICFEATURE$.	false
+142b43c54f3b8d9885e17b501aaccc6d82175094	Mirror agnosia and @DISEASE$ @PHENOTYPICFEATURE$, i.e. a deficit in reaching an object reflected in a mirror, have been reported to be associated with parietal lobe lesions.	false
+13dfe8f94eef0304b1157a7960b989cf99e64aef	We describe two new clinical syndromes, mirror agnosia and @DISEASE$ @PHENOTYPICFEATURE$, both characterized by the deficit of reaching for an object through a mirror in association with a lesion of either parietal lobe.	false
+a9f088b64fb33267748efc086999d5ee76790b5e	In @DISEASE$ @PHENOTYPICFEATURE$ (resembling optic ataxia) although some patients initially tended to reach for the virtual object in the mirror, they soon learned to guide their arms toward the real object, all of them producing many directional errors.	false
+8646c5dce9891022e90bb6eea9d49e057a8c7668	Magnetic resonance imaging showed that in mirror agnosia the common zone of lesion overlap was scattered around the posterior angular gyrus/superior temporal gyrus and in @DISEASE$ @PHENOTYPICFEATURE$ around the postcentral sulcus.	false
+a33cf01320d10e7ed13cea93dc22e07ac6793bcc	@DISEASE$ complicating PSC is heralded by rapid clinical deterioration with progressive jaundice, @PHENOTYPICFEATURE$, and abdominal discomfort.	false
+92266ad7a8d8a8ba6b767acbbdc5e2685fabe792	The possibility of the existence of occult @DISEASE$ should be kept in mind, especially when unusual presentations, such as body weight loss, anemia, palpable abdominal mass, and intractable @PHENOTYPICFEATURE$, appear.	false
+1c18a70b370ba9bad8e2049dc9d40f11c5496be2	@PHENOTYPICFEATURE$ was more common in older patients in those with gastric cancer, @DISEASE$, pancreatic cancer, colon cancer and rectal cancer.	false
+eb94fde04620267933e7fb4ab402d8ca91430f73	Our observations suggest that whenever intrahepatic stones are encountered in patients over 50 years of age with a long history of recurrent cholangitis and intractable @PHENOTYPICFEATURE$, further examination including echo-guided aspiration cytology, liver scanning, and peritoneoscopy should be performed to rule out a coexisting @DISEASE$.	false
+98ed864c7818fb47f988efa1b10b18a6cbe5d4d7	Development of @DISEASE$ was heralded by rapid clinical deterioration with jaundice, @PHENOTYPICFEATURE$, and abdominal discomfort.	false
+53e88df5c15c7ca9ce4304e1dee51127223373ba	An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (@DISEASE$), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, @PHENOTYPICFEATURE$, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age.	false
+8bb2ce0e92c6ae3d6e90e1a08166dd1762cd9fdd	Skeletal @PHENOTYPICFEATURE$--neonatal diagnosis of @DISEASE$.	false
+99e51c60e2bea577e204d89cf1126590f544a004	Synchronous Sacrococcygeal @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c1518c00c057c5ec77dddafa341e8a840e92f91c	@DISEASE$ (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, @PHENOTYPICFEATURE$ and developmental defects.	false
+5dfa74a9cf4590bc0e6b5a15f0244d09675870a3	Calcification of basal ganglia and @PHENOTYPICFEATURE$ ex vacuo are neuropathologic characteristics of @DISEASE$ which may be present on CT as early as 3 years of age.	false
+e4d41a4f5b3bbe61f13b83adec1f590d02b9fee9	The differential diagnoses are papillomatosis, amyloidosis and @DISEASE$ chondrosarcoma @PHENOTYPICFEATURE$ and calcified paratracheal lymph nodes.	false
+54ef55bcb876db73dc94f7371f477a605ccca591	This article describes a rare presentation of systemic @DISEASE$ called Heerfordt's syndrome with the triad of parotitis, uveitis, fever, and optional @PHENOTYPICFEATURE$ of facial nerve.	false
+41e3662f38bc66f7c54dedcf45762afa46197afd	There was a significant difference between the neonatal @PHENOTYPICFEATURE$ with @DISEASE$ results group and the neonatal pneumonia without PCT results group, p < 0.001.	false
+38919ebb4c2f3791a9003e41e0ce6b87a04f0284	This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (@DISEASE$: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, @PHENOTYPICFEATURE$, and motor function in children with DM and compare results with those of controls.	false
+6d2e45f47ef706d918dda53029e18cbf44df3880	Hypogonadism and pituitary @PHENOTYPICFEATURE$; report of a case of @DISEASE$ with hypogonadism and acromegaly.	false
+bc69eeb9ff783223fe3d383c63e4b131ba5e4a42	We report a case of @DISEASE$ in a female newly born presenting with hypotonia, diaphragmatic paralysis, facial diplegia, and @PHENOTYPICFEATURE$ of hips, knees and ankles.	false
+8c70c8928fc40e3cf75f0bf0b5ed7dcbdb867c4b	Our study showed a similar site-specific benign @PHENOTYPICFEATURE$ profile to that previously reported for @DISEASE$-associated cancers.	false
+521345e45bf61711959243bcd728b50924e16aba	Cutaneous @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7ea10571509db29300025fdb936848fed4674710	We describe a rare case of acute lymphoblastic leukemia in a 14-year-old female with @DISEASE$ manifested as mental retardation, extensive @PHENOTYPICFEATURE$ of multiple joints of the lower extremities, and severe scoliosis.	false
+30741d3e1b921f8f2f33801d5cff3f4ca4e1550e	The occurrence of thymoma in @DISEASE$ (DM1) has been occasionally reported, and an increased risk of @PHENOTYPICFEATURE$ has been observed.	false
+513368e2fe8fa5a16e3858feb98cf8ab719d4fe2	There were 17 cases of multiple @PHENOTYPICFEATURE$, 1 case in a patient with familial disease and 2 in patients with @DISEASE$.	false
+b6852161907e167a620b222204c62505b7f75c39	The incidence of @PHENOTYPICFEATURE$ (@DISEASE$.3%, nonDM 1.0%), stroke (DM 2.0%, nonDM 0.6%), and death (DM 3.9%, nonDM 2.9%) was higher in diabetics, but the differences were not statistically significant (P = NS).	false
+15d40862f7fb28161f156f9d8c8349617a512b8f	[Increasing risk of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+a25fade5adcbba4b2899a169a789a23663e7c763	A 68-year-old male visited our hospital with @PHENOTYPICFEATURE$ lesions and an episode of @DISEASE$.	false
+0bcfd216719f6d103927643aa615c85ce9e6b451	The aim of this pictorial review was to demonstrate the CT scan appearance of pulmonary complications such as reperfusion @PHENOTYPICFEATURE$, acute rejection, infection, pulmonary thromboembolism, chronic rejection, @DISEASE$ syndrome, cryptogenic organizing pneumonia, post-transplant lymphoproliferative disorder, bronchial dehiscence and bronchial stenosis.	false
+43e3a93c553433a23b62a51b13feda13b80e221f	Lung histopathology showed alveolar @PHENOTYPICFEATURE$ and macrophage influx in areas of @DISEASE$.	false
+f17d5c3eb802a33442ae5da08faeae48eb396970	Epithelialization, hemorrhage, fibrin, hyaline membranes, emphysema, bronchiolitis, and interstitial @PHENOTYPICFEATURE$ were common, whereas chromatin strands, bronchiolar edema, interstitial emphysema, and @DISEASE$ were less common histopathologic features.	false
+3302606f648309e41619b88cc7c8f45e139be930	Epithelialization, hemorrhage, fibrin, hyaline membranes, emphysema, bronchiolitis, and interstitial edema were common, whereas chromatin strands, bronchiolar @PHENOTYPICFEATURE$, interstitial emphysema, and @DISEASE$ were less common histopathologic features.	false
+53e5b23b74980f8d1a70f29aae1ca2a5ffccf704	Varying amounts of @DISEASE$, type 2 pneumocyte hyperplasia, @PHENOTYPICFEATURE$, acute and chronic inflammation, and interstitial widening were seen.	false
+f0f32f1da271c21e21d77208a557fd2e2e13bce6	This low rate can be attributed to thoracic complications that can be classified into three distinct groups: 1) early complications, occurring in the first 30 days after transplantation (hemothorax, diaphragmatic paralysis, reperfusion @PHENOTYPICFEATURE$, hydric overloading, acute rejection); 2) late complications that occur beyond the first month (@DISEASE$ syndrome, bronchic stenosis, sirolimus-induced lung disorders, initial disease recurrence); and 3) infections classed separately because of their high morbidity and mortality (thoracic wall abscess, bacterial and viral pneumonia, CMV, pneumocystosis, Aspergillus necrotizing bronchitis).	false
+647f5898ff3fa68125b7409565b53581dd50e999	Inactivation of the von Hippel-Lindau (VHL) tumor suppressor gene predisposes to @PHENOTYPICFEATURE$ and @DISEASE$.	false
+114ebf7afba702e588751174a4e5c49df8626348	Amongst other clinical manifestations, patients with the von Hippel-Lindau (VHL) cancer syndrome are predisposed to develop @PHENOTYPICFEATURE$, which are considered to be precursor lesions of @DISEASE$ (ccRCC).	false
+b50f5aa47fca3056458c3b0ee4920f4cad1f8a38	Inheritance of a mutant allele of the von Hippel-Lindau tumor suppressor gene predisposes affected individuals to develop @PHENOTYPICFEATURE$ and @DISEASE$.	false
+98984d2ef23839edbc4782a643e592faa61a2f6c	Our in vivo results support a model in which @PHENOTYPICFEATURE$ represent precursor lesions for @DISEASE$ and arise from single renal tubular epithelial cells owing to von Hippel-Lindau gene deletion.	false
+d318bfa6f62d14c41a95dd05587c2609f51b76ea	@PHENOTYPICFEATURE$ and @DISEASE$ are common clinical manifestations of people with germ-line mutations of the von Hippel-Lindau tumor suppressor gene, VHL.	false
+60d294454fda17916bfb8aa710711a2eb6a9befb	Lifelong complex follow-up is needed, as it is known that at a later age VHL mutation may cause retinal angiomas, cerebellar and spinal hemangioblastomas, relapsed pheocromocytoma, pancreatic and @PHENOTYPICFEATURE$, @DISEASE$ and endolymphatic sac tumors.	false
+c4322dcf1714b30c526d019081fcc17fe93494dd	von Hippel-Lindau (VHL) disease is characterized by the development of benign and malignant tumours in many organ systems, including @PHENOTYPICFEATURE$ and @DISEASE$.	false
+eaf0a799413927a0ee66b92b95920b68fedb3c39	Pathologic examination revealed 16 cases of @DISEASE$ (RCC), 4 cases of @PHENOTYPICFEATURE$, 2 oncocytomas, and 1 angiomyolipoma.	false
+fbefa5cf9b56bdb1aa877e11a325b25f75153d27	Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, @PHENOTYPICFEATURE$, @DISEASE$, and pheochromocytoma.	false
+a900396de783e449caf6b1a1315fa8457e76246d	In patients with von Hippel-Lindau (VHL) disease, @PHENOTYPICFEATURE$ and @DISEASE$ (ccRCC) arise from renal tubular epithelial cells containing biallelic inactivation of the VHL tumour suppressor gene.	false
+feb3962a4186c82e37d0e5d60aaa260e8e1dbcf6	The challenge raised in the first workshop held in Minnesota in 1980 is being realized in this conference with clear evidence that juvenile @PHENOTYPICFEATURE$ epilepsy and @DISEASE$ are linked to specific chromosomes in man.	false
+eb075a87b7246545d965bc03259c06c4f10aeb4b	Among these epilepsies and epileptic syndromes, I detailed the clinical symptomatology and the clinical significance of @DISEASE$, juvenile @PHENOTYPICFEATURE$ epilepsy, epilepsy with myoclonic absence, mesial temporal lobe epilepsy and chronic progressive epilepsia partialis continua of childhood.	false
+d767806c5b384990c03477981c98a900e208e9ae	A number of idiopathic epilepsies are dominantly inherited, such as @DISEASE$, juvenile @PHENOTYPICFEATURE$ epilepsy, as well as benign epilepsy with centrotemporal spikes, and the pathomechanism of these epilepsies may be based on haploinsufficiency in the brain.	false
+4ea0a81112f372eac6af17b2feb630645a720e17	BRE, CIOE, @DISEASE$, benign idiopathic neonatal seizures, and benign @PHENOTYPICFEATURE$ epilepsy in infancy are characterized as "benign" idiopathic age-related epilepsies as they have favorable implications, no structural brain abnormality, are sensitive to AEDs, have a high remission rate, and have no associated psychomotor disturbances.	false
+b4448be99a72434be590f3d321a33ae1178f870d	These include @DISEASE$ due to mutations in KCNQ2 or KCNQ3, generalized epilepsy with febrile seizures plus due to mutations in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile @PHENOTYPICFEATURE$ epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types.	false
+46a3b68e26fd608c9c3495df5d9ef5edf7b90ab3	Some syndromes in childhood, which are completely described by strict electroclinical criteria such as the absence epilepsies, juvenile myoclonic epilepsies, are usually included and analyzed in epidemiologic studies; however, other epileptic syndromes observed in infancy, such as @DISEASE$ and benign @PHENOTYPICFEATURE$ epilepsy in infancy, are quite rare and are usually excluded from epidemiologic surveys because they are difficult to describe completely in electro-clinical terms.	false
+aab2dc00a5ed1a400467ced617facfc595ad6b67	Some syndromes in childhood, which are completely described by strict electroclinical criteria such as the absence epilepsies, juvenile @PHENOTYPICFEATURE$ epilepsies, are usually included and analyzed in epidemiologic studies; however, other epileptic syndromes observed in infancy, such as @DISEASE$ and benign myoclonic epilepsy in infancy, are quite rare and are usually excluded from epidemiologic surveys because they are difficult to describe completely in electro-clinical terms.	false
+1ea5f60e27e2081ebfc41197e98352436750c303	Susceptibility genes for two syndromes of idiopathic generalized epilepsies, the @DISEASE$ and juvenile @PHENOTYPICFEATURE$ epilepsy, have been assigned to the chromosomal regions 20q13 (EBN1), 8q24 (EBN2) and 6p21 (EJM1).	false
+3bac1de6d965591632889785f6658400062490e1	This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy together with our own discovery of novel mutations in the genes of autosomal dominant nocturnal frontal lobe epilepsy and @DISEASE$ (BFNCs), and the genetic locus of benign adult familial @PHENOTYPICFEATURE$ epilepsy.	false
+19cf8a6b9fefa5828489abc32b609c8401338289	Benign non-neoplastic lesions, such as @PHENOTYPICFEATURE$, cholesterol granuloma, epidermoid and benign neoplastic tumors, such as the most commonly found vestibular schwannoma, meningeoma, paraganglioma, vascular pathologies and finally malignant lesions, such as metastasis, @DISEASE$ or chondrosarcoma and endolymphatic sac tumor (ELST) are also discussed.	false
+dca10ba33799c58843a90c370af1a103c41a7e83	@DISEASE$ is a rare low-grade primary malignant @PHENOTYPICFEATURE$, which is presumed to derive from notochord remnants.	false
+1cecfb23fd53b98059e8a72901a12bfa9a5b99a0	In the great majority of cases, it is capable of differentiating between petrous apicitis, cholesterol granuloma, osteomyelitis, @PHENOTYPICFEATURE$, and neoplasms such as schwannoma, meningioma, chondroma, and @DISEASE$.	false
+849b8284220a4a0f934f58f7a1e4a5296552f197	Type III groups together 10 autoimmune diseases (autoimmune thyroid disease, @PHENOTYPICFEATURE$ and/or thymoma, Sj?gren's syndrome, pernicious anaemia, idiopathic thrombocytopaenic purpura, @DISEASE$, insulin-dependent diabetes, vitiligo, autoimmune haemolytic anaemia, systemic lupus erythematosus) for which a genetic predisposition (phenotype HLA B8 and/or DR3 or DR5) seems to be an important factor.	false
+aacc575349a058ec52a6e612488aff5e8e6cd58b	Type 2 @DISEASE$ and @PHENOTYPICFEATURE$: mirror of the Jervell and Lange-Nielsen syndrome?	false
+d8586a4f492786388fb5fbb0779d049d4cb4b8d1	26 children (24 males and 2 females) (3.3 %) demonstrated MRI abnormalities (8 leukodystrophic changes, 4 periventricular leukomalacia, 3 @PHENOTYPICFEATURE$, 2 @DISEASE$ vascular changes, 1 pineoblastoma, 1 cerebellar angioma, 1 cerebellar hypoplasia, 3 agenesis of corpus callosum, 1 neuro-epithelial cyst).	false
+41f9a036d57426868ac6c7c59abc2dce24288a04	Eighteen liver biopsies and 14 liver explants from pediatric patients with extrahepatic @PHENOTYPICFEATURE$ (EHBA), Alagille syndrome (AGS), primary sclerosing cholangitis (PSC), inborn @DISEASE$ of bile acid synthesis, and progressive familial intrahepatic cholestasis (PFIC) were examined along with 5 histologically normal control liver biopsies.	false
+8e14249a26d89adcd62cc2c159f478fc5a9bdc39	Younger children with VCFS demonstrated greater @PHENOTYPICFEATURE$ than older children with VCFS or the children without VCFS, such as smaller consonant inventories, greater number of developmental @DISEASE$, greater severity of articulation disorder, and higher frequency of glottal stop use.	false
+dc8c5941ac3ca0dcd9f266b609e2c43b2ae744ce	Hydrogen could significantly reduce HALI by reducing @PHENOTYPICFEATURE$ and apoptosis, inhibiting the elevating of @DISEASE$ and increased SIRT1 expression.	false
+6d3125fbab65fcc88a530ffb1fb9c4ec1fb3639d	In children, the major causes were @PHENOTYPICFEATURE$ (40%) and inborn @DISEASE$ in metabolism (27%).	false
+0a24934bc205b9ebee668a132f38cd6e631708a5	The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn @DISEASE$ of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and @PHENOTYPICFEATURE$ variants.	false
+cd4fcf78fd8ce0989c7fd915f3cadbc11807c166	@PHENOTYPICFEATURE$ (CAH) is an autosomal recessive disorder associated with inborn @DISEASE$ of steroid metabolism.	false
+9559c8f7b5531c56656d5e851041e4cf56968438	The nasal @PHENOTYPICFEATURE$ is a rare non-neoplastic malformation or inborn @DISEASE$ of tissue development, characterized by a mix of several tissue types.	false
+d9f9b806160ef760fc68733c3b588a80a604bbe1	To determine the efficacy of rifampicin as a treatment for refractory pruritus, the medical records of 33 children (median age 25 months, range 4-135; 19 boys) with chronic cholestasis liver disease (21 with Alagille's syndrome, eight with progressive intrahepatic cholestasis, one with extrahepatic @PHENOTYPICFEATURE$, one with an inborn @DISEASE$ of bile acid metabolism, and one with cryptogenic cirrhosis) were reviewed retrospectively.	false
+958053dfe4031b448a59b6b1bd5dbe151f775b78	Midline discharges, lateralized periodic discharges, and @PHENOTYPICFEATURE$ have been described with ipsilateral lesions that result in midline shift (@DISEASE$).	false
+6c8da18a9392ff856cee4453eda9316d9ab35a1f	GD is a severe, often lethal, condition presenting with short stature, @PHENOTYPICFEATURE$, stiff skin, joint contractures, tracheal-bronchial stenosis and cardiac valve anomalies, whereas @DISEASE$ is non-lethal and characterized by short stature and severe skin fibrosis.	false
+2c43b695acbaf6d6b8ddbdec753ba90fd85d8b59	Beside the classical @DISEASE$ phenotype, occasional features such as sclerocornea, @PHENOTYPICFEATURE$, and congenital heart defects can occur.	false
+b4fc9ff2c2510943450bd6b5ba7dff597c99ab2a	Periodic discharges and @PHENOTYPICFEATURE$ arising contralateral to a known lesion have not previously been described as a sign of @DISEASE$.	false
+6f26590f6ae59e38107169aa5a427b296b740bf1	The presence of @DISEASE$ was an independent predictor of @PHENOTYPICFEATURE$ activity in patients with aneurysmal SAH.	false
+9bf56c59318b7733df81f5d30e345eaa79767bf8	Largest study of multilevel surgery (@DISEASE$) for children with bilateral @PHENOTYPICFEATURE$ cerebral palsy, with longest follow-up.	false
+6e8df66963be16238b0c245b2fb87cc04ad13914	Epileptiform discharges and @PHENOTYPICFEATURE$ occurring contralateral to a known lesion may be an indicator of @DISEASE$.	false
+bf449197d7e38c08b30ade5e9df7dedc26ce622f	@DISEASE$ is a rare X-linked recessive acanthocytosis associated with neurological manifestations including progressive chorea, cognitive impairment, psychiatric disturbances, @PHENOTYPICFEATURE$, and sensorimotor axonal polyneuropathy.	false
+fb5b683a8ec9c3d1478877f283c03a2fb5705fbf	Microphthalmia with linear skin defects (@DISEASE$) is an X-linked dominant, male-lethal syndrome characterized by microphthalmia, aplastic skin and @PHENOTYPICFEATURE$, and is caused by the deletion of a 500 kb critical region in Xp22.3.	false
+13935c3f009bf875e33a6dfde0d9af4c7f022126	We investigated the long-term efficacy and safety of multilevel surgery (@DISEASE$) in ambulatory children with bilateral @PHENOTYPICFEATURE$ cerebral palsy (CP).	false
+f84bbdfc8b7fe6e64adce37e5fd580081f27f82e	Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: @DISEASE$, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis @PHENOTYPICFEATURE$ sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome.	false
+af0eb3723f8b881d8f9240cb587e10b465cf44f5	The same is true for the ichthyosis seen in the @DISEASE$, which may be either a diffuse @PHENOTYPICFEATURE$ or ichthyosis linearis circumflexa.	false
+223adac5749eaa63fec80f91ef0fefed783e76a2	Relatively little is known about how young children with @PHENOTYPICFEATURE$ (HI) learn novel words in infant- and adult-directed speech (@DISEASE$).	false
+ec4516c347177d4973715c079f3e7dce6c0d25bb	The purpose of this study was to determine whether infants with @PHENOTYPICFEATURE$ (HI), like their NH peers, show a listening preference for IDS over @DISEASE$.	false
+e133d06597509686fa0863b34e1c0f959bb27683	To this well-known example, may be @DISEASE$ deafness which brings together individuals with a variety of @PHENOTYPICFEATURE$ genotypes, some being dominant.	false
+ec0d0464c98ff9e4d342f6d04f9c7e371bea6885	To this well-known example, may be @DISEASE$ @PHENOTYPICFEATURE$ which brings together individuals with a variety of deafness genotypes, some being dominant.	false
+519c73ab624c5862a060627b5e91d9ca9e07c4f6	Our data is supportive of a role for @DISEASE$ in @PHENOTYPICFEATURE$ and also points to its association with abnormal level of TG and cholesterol.	false
+1c1577cb2d77676a68386a5ca9c077c9fc7204ad	Among children with AD, history of anaemia, headaches and @PHENOTYPICFEATURE$ were associated with even higher odds of @DISEASE$/ADHD.	false
+81b3f7c30830e7f940cb5b2552ba28026f4229df	Familial Danish Dementia (FDD), an early-onset non-amyloid-? (A?) cerebral @PHENOTYPICFEATURE$, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (@DISEASE$).	false
+37a137168903fa373aa89eae787d960dd77211e3	@PHENOTYPICFEATURE$ and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (@DISEASE$-SCID).	false
+274c946116b360ffde9b400c6b88c0c6d1941e84	The diagnosis of @PHENOTYPICFEATURE$ (HF) with preserved ejection fraction requires evidence of grade 2 or 3 (advanced) diastolic dysfunction (ADD), but many patients with @DISEASE$ do not have clinical HF manifestations, hence termed pre-clinical diastolic dysfunction (PDD).	false
+e2f9e064b3579a346e37118c02c1b055e1c089b1	The diagnosis of @PHENOTYPICFEATURE$ (HF) with preserved ejection fraction requires evidence of grade 2 or 3 (advanced) diastolic dysfunction (@DISEASE$), but many patients with ADD do not have clinical HF manifestations, hence termed pre-clinical diastolic dysfunction (PDD).	false
+632fed5bca0c55d0357db3f46d17f570c1909adc	Furthermore, RCC cells treated with @DISEASE$ showed remarkable @PHENOTYPICFEATURE$ in a dose dependent manner.	false
+a8feed3ec45272124d692ee8bb39d94615202fe1	@DISEASE$ obesity to the problem list increases the rate of providers addressing @PHENOTYPICFEATURE$.	false
+be1ff60f4c2c17a2c0a30b323e9aa0b739b3ada0	Targeting plasma membranes with @DISEASE$ improved MTO @PHENOTYPICFEATURE$ availability and thereby therapeutic activity and represents a promising approach to improve MTO-based chemotherapy.	false
+2b885215825ad1742f083f3e6c91d384612bc0cf	The results of the @DISEASE$ indicated that overall @PHENOTYPICFEATURE$ oxygenation increased by 90% (from 13.2+/-9.4	false
+d97bfb0c2449066c5316d15f7deb6f47bcec8aff	Rats implanted with MD-@DISEASE$ also developed gross @PHENOTYPICFEATURE$.	false
+509e9afae41e7dfc929416b6711e219969934974	@DISEASE$ may also be able to monitor minimal residual disease (MRD) of HM by sequencing circulating @PHENOTYPICFEATURE$ cells (CTCs) from peripheral blood.	false
+6407b457ef6595a671c707db318709242bc6c05d	Bilateral tumors were found in 11%, and compared to unilateral @PHENOTYPICFEATURE$, @DISEASE$ was more prevalent.	false
+457ab7a3477d4fb8394a803c4b0da678f0b9e464	Bilateral @PHENOTYPICFEATURE$ were found in 11%, and compared to unilateral tumors, @DISEASE$ was more prevalent.	false
+9dd376b334f6b931a1a542950c82b9c55c65a20f	The fast growing nature of the @PHENOTYPICFEATURE$ model if grafted locally as a fragment was confirmed but not if injected as a single cell suspension (@DISEASE$).	false
+4fbd7b2d10dcff71e5cc1330e0c25901c7da6e38	The hand radiographs of fifteen patients with a diagnosis of @DISEASE$ were reviewed by a radiologist with an interest in @PHENOTYPICFEATURE$ along with the craniofacial team.	false
+52e01c797fa870ae26871e2bdb46dc1f3dd32f27	The expressions of HE4 and eIF3a in @PHENOTYPICFEATURE$ specimens correlated with surgical outcome and predicted OS in ROC patients with @DISEASE$, thus meriting further investigation.	false
+35ff7c43ba223457f9f78aa219ac9f02593e8b24	Spleen cell culture supernatants (@DISEASE$) from small and large @PHENOTYPICFEATURE$-bearing mice enhanced tumor growth.	false
+12a2d22b82422a8f43c16fccd0ba8a4065b21211	Spleen cell culture supernatants (@DISEASE$) from small and large tumor-bearing mice enhanced @PHENOTYPICFEATURE$ growth.	false
+124d893350d930a3618d8f8df6cb686630dd8d9c	Enhancing activity associated with @DISEASE$ from S13-@PHENOTYPICFEATURE$-bearing mice (TBM) was also seen when injected with M3 cells, a syngeneic unrelated tumor.	false
+5f63a3300e6b133ade6a9cf0b6add7e7b695fd8b	Enhancing activity associated with @DISEASE$ from S13-tumor-bearing mice (TBM) was also seen when injected with M3 cells, a syngeneic unrelated @PHENOTYPICFEATURE$.	false
+f5a8c80b992545bd9f18bf070a885287164db225	A second variant, AHS/9PI, resulted in signs and lesions typical of the cardiac form of @DISEASE$: pericardial effusion, subendocardial hemorrhage and widespread subcutaneous @PHENOTYPICFEATURE$.	false
+a8ac689d0709aa1857d6b86fcffb9b403adcc01f	This case report shows that @DISEASE$ could have unusual presentations such as the absence of oliguria, hypertension, and @PHENOTYPICFEATURE$, with rapid recovery and good prognosis.	false
+825ee3ba6f4deb7b4edaf8227531c7f4eb34c1f9	To further investigate this premise, we performed next-generation sequencing to interrogate the coding regions of 29 complement and coagulation cascade genes associated with @DISEASE$ in 100 non-elderly patients presenting with severe hypertension, renal failure and a kidney biopsy showing microangiopathic changes limited to the classic accelerated hypertension-associated lesion of arterial intimal @PHENOTYPICFEATURE$ ('mucoid intimal hyperplasia') in isolation and without accompanying glomerular microthrombi.	false
+4e659eb3eb1a90773f0754af1c84a2ad32ab2cf3	Similar symptoms and confounding conditions: @DISEASE$ versus @PHENOTYPICFEATURE$.	false
+43d19d9af470f9eee776021ce110c9cd1af7741f	A 75-year-old male with a 13-year history of progressive AD, asymptomatic bipolar disorder, chronic kidney disease, @PHENOTYPICFEATURE$, hyperlipidemia, and @DISEASE$ presented to the ED with recurrent/escalating violence toward his wife, whom he considered an impostor.	false
+3f0e8c21fa7b8a834885624995c965b9c4147858	We conducted a systematic search for CPGs of the following NCDs: asthma, atrial fibrillation, @DISEASE$, chronic obstructive pulmonary disease, congestive heart failure, coronary artery disease and/or stable angina, dementia, depression, diabetes, gastroesophageal reflux disease, @PHENOTYPICFEATURE$, hypertension, osteoarthritis, and osteoporosis.	false
+8c15fc3559b460fce53c8eec913e18e9e5a4562e	@PHENOTYPICFEATURE$ and dyslipidemia in non-diabetic @DISEASE$.	false
+94501f705511bc7d549feecea5dbf2511c905f78	Recent studies show that both metabolic syndrome and @DISEASE$ are associated with blood vessel injury, @PHENOTYPICFEATURE$ and over-activity of the sympathetic nerve.	false
+cfd619b1d2e8ebcaf28d90cbb2b21f22f1f5ad44	Twenty seven patients with lower urinary tract symptoms (LUTS) caused by @DISEASE$ (BPH), acute voiding problem, chronic prostatitis, neurogenic @PHENOTYPICFEATURE$ urinary bladder, interstitial cystitis were treated with tonocardin (doxasosine) in a dose 1 to 4 mg.	false
+ed9d1b61039faa7dfb105d7c90361760cd770f0e	Sphincter, bladder and prostatic injections have been described in urological indications as varied as detrusor-sphincter dyssynergia and neurogenic detrusor @PHENOTYPICFEATURE$, idiopathic overactive bladder symptoms, interstitial cystitis, obstructive voiding disorders related to @DISEASE$ or chronic prostatitis, and recurrent urethral stricture.	false
+012c8d6194527a3f639ca432f6330136725fe5af	The main causes of CKD were 29.8% diabetic nephropathy, 19.9% chronic glomerulonephritis, 16.3% @PHENOTYPICFEATURE$ nephrosclerosis, 14.0% unknown, 5.3% amyloidosis, 4.7% autosomal-dominant polycystic kidney disease, 4.1% chronic tubuluointerstitial nephritis, 3.5% malignancies, 1.7% @DISEASE$, 0.6% Alport syndrome.	false
+5aa7d7cb4b318084ac29e4183b1fbbedac7a1366	Familial @DISEASE$, epilepsy, @PHENOTYPICFEATURE$ with unusual electroencephalograms.	false
+da4a9780658df55391c14cf8ce76bdd953bbeba2	@DISEASE$, @PHENOTYPICFEATURE$, and psychomotor retardation in three siblings.	false
+04eabc8195c551aab8751c5a96cd9e007dd1861f	This report describes a child with facial dysmorphism, @PHENOTYPICFEATURE$, psychomotor delay, @DISEASE$ of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules.	false
+e9ce8904aa9f4dbb958bd4ed52301e2d9d3adc2b	[A patient with epilepsy, @DISEASE$ and @PHENOTYPICFEATURE$: combination of atypical absence in waking and nocturnal partial seizure].	false
+d9ef756145b420b96a8788736fd0c15b29f98ffd	We report a 7-year-old girl with epilepsy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+2b319a3ca0bf4ac7ee40c7de49ce60738e4d1164	In addition to white spots in the fundus, patchy areas of @PHENOTYPICFEATURE$ were noted, which were reminiscent for an early stage of @DISEASE$ (RPA).	false
+4a74cd65301514a43835370bbe4b906b27b695f7	Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), and @DISEASE$ (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and @PHENOTYPICFEATURE$, and dermal fibrosis.	false
+6a3ff4e25ebd043acedad275708667c8f055c9ff	[Complex pulmonary @PHENOTYPICFEATURE$: @DISEASE$.	false
+bd6378c51169eacde22707615b8301c08bacdc89	Subsequent histopathology revealed the @PHENOTYPICFEATURE$ to be a @DISEASE$.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+0ddf79c83e29b43bb01514fce980d8389cd6fe63	@DISEASE$--a rare @PHENOTYPICFEATURE$ with variable presentation.	false
+bf5d1937baae09cd1f69fcf1bf6d9130a1bb2ef7	[A rare malignant pulmonary @PHENOTYPICFEATURE$: @DISEASE$.	false
+dac82aa7ecf1f9f41988d23e12203b9a80601054	We present controversies concerning @DISEASE$ and related biphasic primary pulmonary @PHENOTYPICFEATURE$.	false
+861a112e95464695166787817e0cd9b2b67fa260	@DISEASE$--a rare @PHENOTYPICFEATURE$.	false
+8f723342dd35a4f7ebd5753b66efc97d8c8a34ba	[A rare pulmonary @PHENOTYPICFEATURE$: @DISEASE$.	false
+1a570f2972396f142bbe93ad4c74fddd21e9440e	@DISEASE$ is a rare malignant pulmonary @PHENOTYPICFEATURE$.	false
+60df0bd3106af19094f65114b66cc018db39d7e9	[Complexe pulmonar @PHENOTYPICFEATURE$: @DISEASE$.	false
+f8f1935514fd45778f17fc0f636ab8ad056f4511	Within a period of 3 years, 56 infants and children with embryofetal @DISEASE$ syndrome have been detected and examined for @PHENOTYPICFEATURE$.	false
+e2f9caeceff38114def044f8e9a4ae8313bab825	The predictors show moderate discrimination of @PHENOTYPICFEATURE$, @DISEASE$ consumption, and HDL cholesterol.	false
+5cd7789eb64f262a885109fb0eb10893c5aa808c	Chronic @DISEASE$ consumption is accompanied by intestinal dysbiosis and bacterial @PHENOTYPICFEATURE$, yet little is known about the factors that alter the microbial composition or their contribution to liver disease.	false
+27398af458cd78e40d41bcf720ac6e4334c7bc9c	Nonsyndromic @PHENOTYPICFEATURE$ are considered a problem of public health in Brazil, presenting a multifactorial etiology that involves genetic and environmental components, such as maternal @DISEASE$ consumption.	false
+90f6631fc1766afe378e397ae6eecffa5212eacc	Foetal @DISEASE$ syndrome (FAS) is the combination of @PHENOTYPICFEATURE$, neurological impairment and abnormal facies shown by some infants born to alcoholic women.	false
+1aa5c7626bf64c74475aafdc23b4445e9352efdd	Maternal @DISEASE$ consumption has been associated with an increased risk of nonsyndromic @PHENOTYPICFEATURE$ in some studies.	false
+5df8f38e40a9656dc8b709005e8c9489c18d86b2	Chronic @DISEASE$ consumption produces alcoholic heart muscle disease (AHMD), a prevalent form of @PHENOTYPICFEATURE$.	false
+9689d6b09a7a13ded054ef21250faacb1e46e4f4	Chronic alcohol consumption produces @DISEASE$ heart muscle disease (AHMD), a prevalent form of @PHENOTYPICFEATURE$.	false
+0364abb76a1be1dbc82d0f7d1e819568ca1f96b0	Other associated medical disorders identified were epilepsy, @PHENOTYPICFEATURE$, foetal @DISEASE$ syndrome and cerebral palsy.	false
+00eb4f851695eb5cab5d1a0fda442e7fc942ef09	Smoking, @PHENOTYPICFEATURE$ and excessive @DISEASE$ consumption are prevalent in this population.	false
+80e012f5cc8d2b3853f11936b86669b55f05b5e6	Maternal @DISEASE$ consumption, alcohol metabolism genes, and the risk of @PHENOTYPICFEATURE$: a population-based case-control study in Norway, 1996-2001.	false
+9f14afc157a341c752b1d3c03a71409a958f0442	We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with @PHENOTYPICFEATURE$ and seizures, 3 with a normal phenotype, and 1 with @DISEASE$ (PWS).	false
+405bbff3c5eaa0e6eac21c4dd8e7c37452dd696f	The increasing availability of biosynthetic pituitary GH has made it feasible to treat GH-deficient children and adults, and patients of short stature due to a variety of other causes (Turner's syndrome, anomalies of SHOX, intrauterine growth retardation (IUGR), @PHENOTYPICFEATURE$, @DISEASE$, or idiopathic short stature).	false
+c39b2158a67d6d1ae68c3da1ced4656349454e14	The patient has a unique phenotype distinct from Ullrich-Turner or @DISEASE$, but includes @PHENOTYPICFEATURE$ and language delay which are commonly seen in Angelman syndrome.	false
+c1b69ec608bac3ec0f4556df2e2e5727b888190f	In Florida, the Agency for Persons with Disabilities provides waivers for adults with the following types of disabilities: intellectual disability, autism spectrum disorder, cerebral palsy, @PHENOTYPICFEATURE$, Down syndrome, and @DISEASE$.	false
+63114394092afba177ad56b091f22e3bc0858410	@DISEASE$ (PWS) is characterized by obesity, mild mental retardation or learning @PHENOTYPICFEATURE$, and behavior problems, especially in association with food and eating.	false
+3a3ddc0f0edd0e09ff0f43d3cd7448f20887ce06	@DISEASE$, Friedreich's @PHENOTYPICFEATURE$, spinal muscular atrophy (SMA), fragile X syndrome, X-linked adrenoleukodystrophy (ALD), and SCN1A gene-related epilepsies.	false
+c2b58f9a2ab40721948b9ae078ce654ced035c5f	The causes of HH included hypopituitarism (n = 3), @DISEASE$, chromosomal aberration, intellectual disability syndrome with @PHENOTYPICFEATURE$, and idiopathic causes (n = 2).	false
+fa4d6a26b46de99f93a83efa01b17e6677cfa02d	@DISEASE$ (PWS) is a genetic disorder characterized by hypotonia, mental retardation or learning @PHENOTYPICFEATURE$, hyperphagia and compulsive eating due to hypothalamic dysfunction.	false
+dc6008ad7e850ba7a2cccf218f2bbcc8bbe1a832	@DISEASE$ (PWS) occurs in about 1 in 15,000 individuals and is a contiguous gene disorder causing developmental @PHENOTYPICFEATURE$, hyperphagia usually with obesity, and behavioral problems, including an increased incidence of psychiatric illness.	false
+31723430e2a8a0bf0e43432d9111db17f0c7adb3	A 34-year-old man with @DISEASE$ and an associated learning @PHENOTYPICFEATURE$ had had ulcers on both legs for 20 years because the healing process was interrupted by self-harm.	false
+71337e6d791279b0b332ea051922cb1021a28891	@DISEASE$ was assessed by dental evaluation and @PHENOTYPICFEATURE$ was verified by medical history.	false
+d4f7bc08f1b5a0089524d7d0d3aa3324950ef083	@DISEASE$ symptoms (Group I, II and III) were also associated with @PHENOTYPICFEATURE$ and headache.	false
+471aacccc680b94c71e131b8b1506993d5e0dc57	The results revealed that tinnitus and @PHENOTYPICFEATURE$ were significantly more prevalent in the @DISEASE$ group than in either control group.	false
+a8dd9c2064027ab8fd6b199a25eb6e7b0875d46d	The observation that patients with @DISEASE$ have otologic symptoms is confounded because tinnitus and @PHENOTYPICFEATURE$ are common symptoms in the normal population.	false
+909f23aa322cbceb647fc4b067ea91348b48e23c	Tinnitus and @PHENOTYPICFEATURE$ symptoms were significantly more prevalent in the @DISEASE$ group than in either of the control groups.	false
+2279b54de9c00a9d3b5401f10734482fff4a0569	When painful, @DISEASE$ are generally associated with @PHENOTYPICFEATURE$ of the overlying skin.	false
+be6c7beb262f6cff8b3a7d944c7c8f5a7db7c75c	Of the subjects with otalgia, tinnitus, @PHENOTYPICFEATURE$, or perceived hearing loss, 67%, 64.1%, 65.2%, and 62.2% had @DISEASE$, respectively.	false
+d81d0d674166f9697e1ca134b619b7a3ada0e567	It was concluded that tinnitus is associated with @DISEASE$ and with otalgia, dizziness/@PHENOTYPICFEATURE$, stuffy sensations, hypoacusis sensation and hyperacusis, as well as with higher depression levels.	false
+d54a893929610e308958ebdc6d18b309770e8417	Two hundred TMD patients with coexisting tinnitus, otalgia, dizziness, and/or @PHENOTYPICFEATURE$ were asked about their otologic symptom characteristics and associations and were given clinical tests, which were speculated to predict otologic symptom response from @DISEASE$ therapy.	false
+76b8e70621f5224eca3dd84acc7e029bc02a91e3	Two hundred @DISEASE$ patients with coexisting tinnitus, otalgia, dizziness, and/or @PHENOTYPICFEATURE$ were asked about their otologic symptom characteristics and associations and were given clinical tests, which were speculated to predict otologic symptom response from TMD therapy.	false
+a688f5b7c098209790dad3b9efb7b116f76f36e5	The present study was conducted to determine if tinnitus and @PHENOTYPICFEATURE$ are actually more prevalent in patients with @DISEASE$ than in appropriate age-matched controls.	false
+6d4301e0780fbe8204c43b22ea5920b575cd91c6	Key clinical features are @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b20b06e7c79e6c84d9127733afa7648b46a84a31	SPONASTRIME dysplasia is a rare, recessive @DISEASE$ characterized by short stature, @PHENOTYPICFEATURE$, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+e1bc9c97507660839a752850e9b41da32ec7f6e3	SPONASTRIME dysplasia is a rare, recessive @DISEASE$ characterized by @PHENOTYPICFEATURE$, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis.	false
+d31b81ec31fa23028d69c4c0503e815161d84356	Acromicric dysplasia is a @DISEASE$ that is characterized by short stature, short hands and feet, typical @PHENOTYPICFEATURE$, normal mental development, and characteristic hand radiology.	false
+cc30c0a7bdae0e74c582baf072d00b004e1c4a23	Acromicric dysplasia is a @DISEASE$ that is characterized by @PHENOTYPICFEATURE$, short hands and feet, typical facial dysmorphism, normal mental development, and characteristic hand radiology.	false
+d7cd30207f4f9d2bea08ce92dbb132ef0f39649c	Pycnodysostosis is a @DISEASE$ characterized by @PHENOTYPICFEATURE$.	false
+7ff9a11a4394fac8a15e8bd21d7453c01593951f	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with short stature, @DISEASE$, immunological abnormalities, @PHENOTYPICFEATURE$, and normal motor and cognitive development resembling SOPH syndrome.	false
+78eb88c0c75e3ca387d7df1228edb27e127ead4c	The phenotypic spectrum of NBAS deficiency ranges from isolated RALF to a multisystemic disease with @PHENOTYPICFEATURE$, @DISEASE$, immunological abnormalities, optic atrophy, and normal motor and cognitive development resembling SOPH syndrome.	false
+4ee5bc641b7de2bdc93cb38b7412f6d7cbddb099	Desbuquois dysplasia is a very severe and sometimes lethal form of @DISEASE$ characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and @PHENOTYPICFEATURE$.	false
+1994f1d7db555c462373904cfa2f96a434f1fc05	Desbuquois dysplasia is a very severe and sometimes lethal form of @DISEASE$ characterized by prenatal onset of severe micromelic @PHENOTYPICFEATURE$, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism.	false
+ed6f3c52954d895497332f8dfd582aa110307ef7	Mutation in Two Family Members with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8617086fa8fe5aac1996c6d5129b2e5c0e0ecf41	@DISEASE$ is an uncommon cause of @PHENOTYPICFEATURE$ in children.	false
+53ffcf36833fbe15e34c93523c1f78f380338693	Larsen's syndrome: a @DISEASE$ with multiple joint dislocations and @PHENOTYPICFEATURE$.	false
+590b86e0ea90308c31d8e8d75fa83bfa325ff37b	Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by @PHENOTYPICFEATURE$, facial dysmorphisms, developmental delay, and @DISEASE$ caused by pathogenic variants in XYLT1.	false
+a8164116b28c35b2950ef6ded0bc43e5192c405a	Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, @PHENOTYPICFEATURE$, developmental delay, and @DISEASE$ caused by pathogenic variants in XYLT1.	false
+4a0efcda7e3d76dedc8a1cac77f488525ed99dd0	Most cases reported as aglossia-adactylia syndrome, @PHENOTYPICFEATURE$-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and @DISEASE$ describe instances of the Hanhart syndrome.	false
+925de5532659a864aea8ec73732d76ce92f82a87	@DISEASE$ is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with @PHENOTYPICFEATURE$ .	false
+a52b56a484526ce90ac967e9f5110e4140e9f569	We reviewed etiologic and phenotypic aspects of those orofacial and @PHENOTYPICFEATURE$ usually diagnosed as Hanhart syndrome and @DISEASE$ but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome.	false
+9536fa6cd942699ff7e138cd19de8c44d5bff680	We describe a family affected by Ulnar-Mammary syndrome (@DISEASE$) in which typical UMS traits (hypoplasia of the breast and axillary hair, upper limbs and @PHENOTYPICFEATURE$) are present together with cardiac malformations and pulmonary stenosis.	false
+4ec6c4de6dce7bb5181e6970be08d338b5e796ac	We describe a family affected by Ulnar-Mammary syndrome (UMS) in which typical @DISEASE$ traits (hypoplasia of the breast and axillary hair, upper limbs and @PHENOTYPICFEATURE$) are present together with cardiac malformations and pulmonary stenosis.	false
+0502e27b3b55a5f8bb0424e84b7b2e7f8f873030	We describe a family affected by @DISEASE$ (UMS) in which typical UMS traits (hypoplasia of the breast and axillary hair, upper limbs and @PHENOTYPICFEATURE$) are present together with cardiac malformations and pulmonary stenosis.	false
+3821de117a276d65b59c39ab62a8e66da1e9bc40	Mutations in TBX3 that result in reduced functional protein lead to @DISEASE$, a developmental disorder characterized by limb, mammary gland, tooth, and @PHENOTYPICFEATURE$.	false
+84466748e8c76ea72ccc828a70109adf823df5dd	@PHENOTYPICFEATURE$ and pituitary hypoplasia as recurrent features in @DISEASE$.	false
+3ed644f46ff85cafd72d85107537377b9db6d008	Mutations in Tbx3 cause @DISEASE$, an autosomal dominant disorder characterized by upper limb defects, apocrine-gland defects including mammary hypoplasia, and tooth, hair and @PHENOTYPICFEATURE$.	false
+dd5a8f77897931997506f824bd9aefcae8aad990	Occurrence of @DISEASE$ in human lung-tissue culture, and in transplantable chicken hepatoma induced in a hepatic @PHENOTYPICFEATURE$ by MC-29 virus was observed.	false
+9903214a354edcace0ab0d7975960fe336922014	Mutations in TBX3 cause ulnar-mammary syndrome (@DISEASE$), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and @PHENOTYPICFEATURE$.	false
+e807776197cb47cec208119e733687cf94191417	Mutations in TBX3 cause @DISEASE$ (UMS), which is distinguished by upper limb malformations affecting the ulnar ray, apocrine, and mammary gland hypoplasia, and @PHENOTYPICFEATURE$.	false
+d2a12987d7b3dc84eff895d22e0f085215890458	They include Holt- Oram syndrome/TBX5, @DISEASE$/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH deficiency/TBX19 and @PHENOTYPICFEATURE$ with ankyloglossia/TBX22.	false
+66ca715994bc42d5c35c7d1ae616c2350fdbde6d	Ulnar-mammary syndrome (@DISEASE$) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and @PHENOTYPICFEATURE$.	false
+007b842eb7ff3b8542726bce63ed2b4538809422	@DISEASE$ (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty and @PHENOTYPICFEATURE$.	false
+1e6506ce9b5333e2011ffd3fa31b14403aabcf1a	In this article, we discuss the implications for these findings as well as explore the role epigenetic mechanisms may play in the development of human genetic diseases that are caused by T-box mutations, including congenital heart defects, @PHENOTYPICFEATURE$, pituitary deficiencies, and @DISEASE$.	false
+15c02a1d4bdf318c0e8a575f9b37419c949f65a1	The ulnar-mammary syndrome (@DISEASE$) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and @PHENOTYPICFEATURE$.	false
+2ce945b132a8d50c75a53b6bc06677c44ca94b51	The @DISEASE$ (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and @PHENOTYPICFEATURE$.	false
+8cdd06c3dfd3ebe4760c45ba16cf47ab1420f0b1	The @PHENOTYPICFEATURE$ appeared as a meningoencephalitis with perivascular mononuclear infiltration and microglial activation in the brain, and a @DISEASE$-like syndrome with high level of POWV antigen at the ventral horn of the spinal cord.	false
+21c8dc091da7d2deb2334c3983a714a1ea989c0e	Lower @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3096c3da73a4ac2bdbba56c767c3a548d788861f	Although laboratory evidence for a poliovirus infection was absent, serologic and polymerase chain reaction studies documented an active @PHENOTYPICFEATURE$ with Epstein-Barr virus, indicating that a @DISEASE$-like syndrome may be produced by infectious agents other than enteroviruses.	false
+cc2a5ad9c63a9fdfc104167a35baa5e28334dc2a	We describe new syndrome-@PHENOTYPICFEATURE$ associations in several entities: cleidocranial dysostosis (Wilms tumor), Bardet-Biedl syndrome (BBS) (acute lymphoblastic leukemia), Kabuki syndrome (neuroblastoma), LEOPARD syndrome (neuroblastoma), @DISEASE$ (osteosarcoma; Hodgkin disease), and blepharophimosis epicanthus inversus syndrome (Burkitt lymphoma).	false
+e3c9b772d955520ed83acd8a88ebcca818a14290	Associated systemic findings included @DISEASE$ (2), club feet or other limb anomalies (8), micrognathia (8), tongue malformations (17), @PHENOTYPICFEATURE$ (5), and speech problems (18).	false
+b2781264b9dc33bd94a54c7940ceb896128a2270	The authors report a case of M?bius syndrome with @DISEASE$, @PHENOTYPICFEATURE$, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss.	false
+403ec13071fe6b4aa944551fa457f5b81f906ed4	A patient with a severe case of @DISEASE$ presented with a painful capsular @PHENOTYPICFEATURE$ from a previous implant-based breast reconstruction.	false
+7fe79a6c1531503903b6e2118b04872fb94bae2f	In addition to the thoracic defect, @DISEASE$ can be associated with hand anomalies, dextrocardia, renal agenesia, and various @PHENOTYPICFEATURE$.	false
+7d7311ef8c8180614cbe6a79b164a1c943c09d21	Moebius-@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0f9a17d96c9f2bee2686b68df2bb137516581630	In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: @PHENOTYPICFEATURE$, prominent occiput, very low set and posteriorly rotated ears, hypertelorism, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and @DISEASE$.	false
+2b6213fe8cfe69e803151ea31d04fd331233b394	When they were first seen at our institution, twenty-four patients (56 per cent) had a cutaneous lesion, such as hairy patch, dimple, hemangioma, subcutaneous mass, or teratoma at or near the level of the diastematomyelia; thirty-four patients (79 per cent) had congenital scoliosis; and forty-two patients (98 per cent) had at least one associated musculoskeletal anomaly, such as @PHENOTYPICFEATURE$, asymmetry of the lower extremities, @DISEASE$, or a cavus foot.	false
+959a72951a98ffdcd062131362b2b596f0f89cfd	Survivors in all instances exhibited these developmental defects: evisceration; subcutaneous @PHENOTYPICFEATURE$; light pigmentation of the epidermis; beak malformations; @DISEASE$ and patchy feathering.	false
+a077a01141d84e194ecb22af5b6493eab39818b8	Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, @DISEASE$, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, @PHENOTYPICFEATURE$, and intrauterine growth restriction.	false
+c81b14177236d8241b3a5f807ea7af47e4fa1c65	Clinical findings include marked growth retardation, developmental delay, seizure disorder, @PHENOTYPICFEATURE$, unruly hair, broad nasal tip, downturned mouth, narrow palate, 11 pairs of ribs, mild right @DISEASE$, and a deep sacral dimple.	false
+62705f0c12278d3b7cb9d250f2bba0c76d37e35e	A variety of gross malformations occurred, i.e. encephalocele, cranial meningocele, omphalocele, @PHENOTYPICFEATURE$, @DISEASE$, defects in tail, anal atresia, shortened backbone and Spina bifida occulta.	false
+ebc637aac1ccadb92d2c43505b981543223d5f01	The remaining defects include the following: (1) those that are known to or could reasonably originate or manifest after the embryonic period (e.g., porencephaly, cataracts); (2) those for which pathogenesis is unclear or variable enough that exposure at any gestational age might be considered relevant (e.g., @DISEASE$, @PHENOTYPICFEATURE$); and (3) those that include some component of abnormal growth (e.g., hemihyperplasia).	false
+3feab1b04d91f25ef76db74735b629b17f4bcede	Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b85445851345cb6f7744fe278cf32cad8d4623f9	The orthopaedic manifestations of patients can be hypoplastic odontoid peg with atlantoaxial instability, severe kyphosis or lordosis of dorsal and lumbar spines, hip subluxation, @PHENOTYPICFEATURE$ and early severe hip osteoarthritis, and malalignment of lower limbs like genu valgum or @DISEASE$.	false
+165e86ab8e155dcc8bcb1941b519a671c84d3c01	The primary tethered cord syndrome has been documented mainly in children and adolescents but also in adults, and patients may present with backache, neuromuscular skeletal changes such as @DISEASE$, scoliosis, @PHENOTYPICFEATURE$, disturbances of gait, or dysfunction of bladder and rectum, or a combination of these conditions.	false
+4c3ab85dee5249a4159ecb5e0e904b2ae23720a9	@DISEASE$--a single case report with systemic @PHENOTYPICFEATURE$, multiple organ fibrosis and pulmonary cachexia.	false
+ab1f0c4895fc509e590041ab316b22f247a837a6	Rubinstein-Taybi syndrome (@DISEASE$) is a multiple congenital anomaly syndrome characterized by @PHENOTYPICFEATURE$, broad thumbs and toes, and mental retardation.	false
+800e82648f2053bbc3130db93b6f3d65300f5504	To our knowledge, up to now 6 cases of @DISEASE$ (Thomson-syndrome, Rothmund-Thomson-syndrome) in conjunction with verrucous @PHENOTYPICFEATURE$ and squamous cell carcinoma have been reported in the literature.	false
+e153207e7bd1bb60301fef366ecd99dee011a30e	To our knowledge, up to now 6 cases of congenital poikiloderma (Thomson-syndrome, @DISEASE$) in conjunction with verrucous @PHENOTYPICFEATURE$ and squamous cell carcinoma have been reported in the literature.	false
+d90478067b9e41be3e1a289ef63d2699ef576197	Rubinstein-Taybi syndrome (@DISEASE$) is a malformation syndrome characterised by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and mental retardation.	false
+6544e56156d9eae75170b490d2caef46982ef64a	@DISEASE$ (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and @PHENOTYPICFEATURE$.	false
+627c640347b262c9ec772529bbec2dd26c82af5a	Rothmund Thomson syndrome (@DISEASE$) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and @PHENOTYPICFEATURE$.	false
+a452e2f4f9a47a0e977bc7a61a0c5798031d4077	The Rubinstein-Taybi syndrome (@DISEASE$) is a well-defined complex of congenital malformations characterized by @PHENOTYPICFEATURE$, broad thumbs and big toes, and mental retardation.	false
+90303ff8542bfcdcd32598bbfe5b72051b187c04	Rubinstein-Taybi syndrome (@DISEASE$) is a multiple congenital anomalies and mental retardation syndrome characterized by @PHENOTYPICFEATURE$, broad thumbs, and broad big toes.	false
+8eba50d0695297ab18a20f9b840bd61dbadaff64	Rubinstein-Taybi syndrome (@DISEASE$) is a well-defined syndrome characterized by @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and growth and mental retardation as the main clinical features.	false
+0ad8ec029e4da352dc778f055b4f05114e1e666e	The Rubinstein-Taybi syndrome (@DISEASE$) is a well-defined syndrome with @PHENOTYPICFEATURE$, broad thumbs, broad big toes and mental retardation as the main clinical features.	false
+c9e7ddb5fb89df29c1b244a27f68d266b528a3c3	A case an eleven year old girl with @DISEASE$, generalized xerosis and cutaneous atrophy, recurrent blister in extremities, sclerosis of the fingers and toes diffuse @PHENOTYPICFEATURE$ and webbing between some toes is reported here.	false
+a55b0fead5d68a64faeaef9a0aeec84052273cd3	The major manifestations of the @DISEASE$ are developmental delay, short stature, @PHENOTYPICFEATURE$ and epilepsy.	false
+55e6b0204df9609cfb1ffb0fb54e85070cc86e2f	New radiographic findings of @PHENOTYPICFEATURE$, cervical ribs, and fusion defects of the elbows, ribs, and spine are presented in a girl with @DISEASE$ with 45 chromosomes and a B4/G22 translocation [45, XX, -4, -22, +t(4p22q)].	false
+56bac109663ea3e73453bb69fd5ce065a5ec3585	@PHENOTYPICFEATURE$-associated dendritic cell-derived resistin promoted cancer progression by increasing @DISEASE$ candidate 1/Twist pathway.	false
+ff603fcc5eb1a0f5db00642427265d88b4af00ec	There are no case reports that include radiographic documentation of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+37f1bfc183d6851fbf21b6f07ed1d2acef8b87c3	TGF-? alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and @PHENOTYPICFEATURE$ have been associated with @DISEASE$.	false
+3dcbdc123a74d8ec233e9d6c5154308d84b8618d	@DISEASE$ is considered to be an inflammatory disease of the adenohypophysis that is commonly present with visual disturbance and @PHENOTYPICFEATURE$.	false
+ddfb3eb1f34ce2781a2065443310f6144a4f27ff	Histological examination revealed @DISEASE$, a rarely identified condition usually associated with @PHENOTYPICFEATURE$.	false
+f59412aa0e7c0a98bb2cc2de083da5345d17104d	In particular, @DISEASE$(LAH)is usually associated with pregnancy and @PHENOTYPICFEATURE$ due to insufficient endocrine of ACTH.	false
+e3f816a0b88e7d3b3d2fc01c1ae23f4aed498b0a	@DISEASE$ is a very rare autoimmune disease characterized by an anterior pituitary infiltration of lymphocytes that cause various symptoms, such as headache, visual disturbance, and @PHENOTYPICFEATURE$.	false
+109613c9e34324f9418868fd495b6ed24702b20e	In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, @DISEASE$, x-linked and autosomal gene @PHENOTYPICFEATURE$, and cystic fibrosis transmembrane conductance regulator abnormalities.	false
+26c53ce9b625c47b959d4afbe212f66f4df31b34	Karyotype was 46,XY; clinical, endocrinological, radiological and surgical work-up revealed @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ee950eb791ab15c62a89a6c3ab796d58c21111dc	Examples are age-related macular degeneration (@DISEASE$), fungal infections, @PHENOTYPICFEATURE$ surrounded by overlying tissue, cataracts, etc.	false
+b4efa5d3d6a976f582d876822aa0aaf02c86ee7e	Examples are @DISEASE$ (AMD), fungal infections, @PHENOTYPICFEATURE$ surrounded by overlying tissue, cataracts, etc.	false
+fe9d028390614a27d5d4d918b05390d48447a093	In an aging population vascular disorders well exemplified by the chronic limb ischemia, chronic heart failure, @PHENOTYPICFEATURE$ and @DISEASE$ represent a serious medical and socio-economical problem.	false
+502d9e5055db632a682a0c196788824214997e67	[Differential diagnosis of exudative @DISEASE$ with posterior pole choroidal @PHENOTYPICFEATURE$].	false
+ed0fc84865603014dc4b64df101c66e71211966d	Excessive or reduced angiogenesis can result in, or exacerbate, several disease states, including @PHENOTYPICFEATURE$ formation, exudative @DISEASE$ (AMD) and ischemia.	false
+d897d1e31bd1d80fb3180df453a8f574239296d0	Excessive or reduced angiogenesis can result in, or exacerbate, several disease states, including @PHENOTYPICFEATURE$ formation, exudative age-related macular degeneration (@DISEASE$) and ischemia.	false
+7c951e7b771a4f4ea949f00144f46c340c745b85	Based on delay of @PHENOTYPICFEATURE$ growth, the radiation dose reduction factors for AMD + RAD + LTH compared to RAD; @DISEASE$ + RAD + LTH, were approximately 2.8, 2.1, and 1.8, respectively.	false
+8b375b8a280a83bc3f1fe016a6af03389d6b4878	Based on delay of @PHENOTYPICFEATURE$ growth, the radiation dose reduction factors for @DISEASE$ + RAD + LTH compared to RAD; AMD + RAD + LTH, were approximately 2.8, 2.1, and 1.8, respectively.	false
+c7fb9dd327d603d4520c2f82442e24bbc56587ab	The role of autophagy in such diseases as @PHENOTYPICFEATURE$, diabetic nephropathy (DN), @DISEASE$ (AMD), etc, is currently under intense investigation.	false
+166d52d8fb61499ba34af48cd8e119552efbffed	The role of autophagy in such diseases as @PHENOTYPICFEATURE$, diabetic nephropathy (DN), age-related macular degeneration (@DISEASE$), etc, is currently under intense investigation.	false
+5af410b78fcb1bbf1ec9b738a3dad600a3512723	In this review, we discuss the recent findings focusing on MTs' functions following @PHENOTYPICFEATURE$, @DISEASE$, and RP.	false
+12b35df9ffd24713cb5fa5005f783f3a2b3016ad	Choroidal arterial perfusion in the macula was significant decreased in eyes with @DISEASE$ with and without CNV, and was associated with choroidal venous @PHENOTYPICFEATURE$.	false
+8b0de5559e860ff2f80b945a3a3450ba7dab8b13	Targeting angiogenesis is a promising approach to the treatment of solid @PHENOTYPICFEATURE$ and @DISEASE$ (AMD).	false
+02696b73c1217449f1e1012d0ebeb60a980a571a	Targeting angiogenesis is a promising approach to the treatment of solid @PHENOTYPICFEATURE$ and age-related macular degeneration (@DISEASE$).	false
+f49c336126294730d09c75de9abb85db04c60ef8	Six eye specimens were obtained from patients diagnosed with @DISEASE$ but another eye was obtained from a patient with partial lipodystrophy, who died after @PHENOTYPICFEATURE$ presumably because of DDD.	false
+fed67f6e5f8039c4f773acb1d3e5052a9693cbe6	Physical characteristics of young men with @DISEASE$, and @PHENOTYPICFEATURE$ only.	false
+3c0c03c813647f23d99953937c89ffb78246322d	General intellectual capacity of young men with @DISEASE$ and @PHENOTYPICFEATURE$ alone.	false
+800f1474b0fedbf5e963197164f2ca3b1abefe7a	Two outcomes were analyzed separately: @DISEASE$, @PHENOTYPICFEATURE$ alone.	false
+1660e0dad7d2ff7f1aa14c9102477f7f69103432	Cases included 170 patients with nonsyndromic @DISEASE$ and those with @PHENOTYPICFEATURE$ only.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+a64a9d5cd63a325dd6679c7149c9ba8c9a9f3cbe	377 infants with @DISEASE$; 196 infants with @PHENOTYPICFEATURE$ alone; 763 controls.	false
+338a72ee6d5f28c375d045f3e6808c45292fbc1d	A family study on @DISEASE$ and posterior @PHENOTYPICFEATURE$ in Hungary.	false
+5e2117c386090b68c83b9df9592f967ea9055990	An epidemiologic study of @DISEASE$ and posterior @PHENOTYPICFEATURE$ in Hungary.	false
+291834b262a184d83a97277144f1c8ba46869145	There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for @DISEASE$ and 6.9 per 10,000 births for @PHENOTYPICFEATURE$.	false
+c6dda9673843905622a7d847c59b40aea5883aff	There were 271 cases diagnosed with @DISEASE$ and 127 cases diagnosed with @PHENOTYPICFEATURE$, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for cleft palate.	false
+ad5bdac70e439f61296c795718314ce68cae7437	There were 271 cases diagnosed with @DISEASE$ and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for @PHENOTYPICFEATURE$.	false
+6e77a7c4cd20508574031002e291ba4fe4514766	There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with @PHENOTYPICFEATURE$, giving a prevalence of 14.8 per 10,000 births for @DISEASE$ and 6.9 per 10,000 births for cleft palate.	false
+88b64a799ade43c3a5c83393f1aeef502280c67a	The birth prevalence of @PHENOTYPICFEATURE$ and @DISEASE$ is stable in Canada.	false
+d16fd0b391115b8d07763d9bbd1075d910334413	In addition to more non-specific @PHENOTYPICFEATURE$, obesity is the cause of gastro-oesophageal reflux disease, various gastrointestinal cancers (colorectal cancer, @DISEASE$, oesophageal adenocarcinoma, gastric cardia adenocarcinoma, pancreatic cancer and gallbladder cancer) and non-alcoholic fatty liver disease.	false
+e1dbe21870b55fb2cd51e106a1dd97142c9e491c	Burkitt lymphoma, cervical carcinoma, and @DISEASE$ are associated with Epstein-Barr, human @PHENOTYPICFEATURE$, and hepatitis B virus infections, respectively.	false
+f88286a15a14d94fa023e6f919b3a403627fa936	This case demonstrates the rare occurence of a metastasis to the heart, imitating obstructive cardiac @PHENOTYPICFEATURE$, in a patient with @DISEASE$.	false
+750a1e1e70f5142266f32af807124f5c40fa1fd8	In Donryu rats received a subcutaneous implantation of AH109A cells (an ascites hepatoma line), either 1.2% Met, 1.2% cystine (Cys), or 1.2% Met and 2.5% glycine (Gly) in combination improved a @DISEASE$-induced @PHENOTYPICFEATURE$ and abnormal serum lipoprotein profiles by suppressing a hepatoma-induced increase in (VLDL + LDL)-Ch.	false
+097748a3d74e120f7daf9bb4fb20ecd4c96e1ca4	In Donryu rats received a subcutaneous implantation of AH109A cells (an ascites @DISEASE$ line), either 1.2% Met, 1.2% cystine (Cys), or 1.2% Met and 2.5% glycine (Gly) in combination improved a hepatoma-induced @PHENOTYPICFEATURE$ and abnormal serum lipoprotein profiles by suppressing a hepatoma-induced increase in (VLDL + LDL)-Ch.	false
+017350ba42d2df2ef902b113f279b3df32d3fa9b	In Donryu rats received a subcutaneous implantation of AH109A cells (an ascites hepatoma line), either 1.2% Met, 1.2% cystine (Cys), or 1.2% Met and 2.5% glycine (Gly) in combination improved a hepatoma-induced @PHENOTYPICFEATURE$ and abnormal serum lipoprotein profiles by suppressing a @DISEASE$-induced increase in (VLDL + LDL)-Ch.	false
+0d8b595b82279307f2329b8722b3bf0026727b99	The clinical consequences of iron overload in patients with NTDT are multifactorial and include endocrinopathy, bone disease, thromboembolism, pulmonary @PHENOTYPICFEATURE$, cerebrovascular and neuronal damage, liver fibrosis or cirrhosis, and increased risk of @DISEASE$.	false
+1a0477a2f69bdc30397dfde8c83fe9dddfad1f03	Histopathology revealed sternal metastatic lesions of a @DISEASE$ in 1 patient and of an oesophagogastric @PHENOTYPICFEATURE$ in the other.	false
+10b42645cc6e0485b7dcddc45cf16c3c963b7f2f	We have investigated the effect of six compactin-related compounds--mevinolin, compactin, ML-236A, monacolin X, monacolin L and dihydromonacolin L--on cholesterol synthesis in human umbilical vein endothelial cells, human small intestine epithelial cells, human @DISEASE$ cell line HEP G2, normal human skin fibroblasts and in skin fibroblasts from a patient with familial homozygous @PHENOTYPICFEATURE$.	false
+1aaadfbe04b00b2ce63fc821496b813a15040ece	@PHENOTYPICFEATURE$ and/or insulin resistance in liver disease is associated with hepatocarcinogenesis, growth of @DISEASE$, and poor prognosis.	false
+d924f832aaf650fdc5b8a12eb75ee0a9f7b29860	This is a rare @DISEASE$, which in our case manifested with multiple paraneoplastic phenomena, including hyperthyroxinemia, @PHENOTYPICFEATURE$, hypertriglyceridemia, and hyperalbuminemia.	false
+d7d487c50809f3bf15c8e3480aff41191aaccc6a	EGFR peptide magnetic vesicles (EPMVs) could efficiently recognize and separate @DISEASE$ @PHENOTYPICFEATURE$ cells from cell solutions and treated blood samples (ratio of magnetic EPMVs versus anti-EpCAM NPs: 3.5 ? 0.29).	false
+1ab7c5692b9d6d6f42c4cbd5cbae019581913432	The Cox proportional hazards model showed that MID was an independent variable for recurrence when adjusted for @DISEASE$, depth of @PHENOTYPICFEATURE$ invasion, severity of inflammatory reaction, and use of adjuvant radiotherapy.	false
+021091ef83160ca5a2cd5aa203c92feca8746c4b	In 109 patients with severe OSA and no overt CVD, biomarkers of inflammation (C reactive protein, interleukin-6, @PHENOTYPICFEATURE$ necrosis factor-? and its receptors, adiponectin, leptin and P-selectin), glucose and lipid metabolism, and N-terminal pro-brain natriuretic peptide, were measured before and after 2 months of treatment with a mandibular advancement device (@DISEASE$) (n=55) or a sham device (n=54).	false
+34e98156e0904dad1cadcd55dcb7bd3d2df8c419	Metastatic deposits were measured and the disease status was classified into three groups: 1) absence of metastatic disease (MOD); 2) MID, one or more metastatic PLN with only isolated @PHENOTYPICFEATURE$ cells and/or micrometastases (up to 2 mm); and 3) macrometastatic disease (@DISEASE$), presence of one or more metastatic PLN with macrometastases (more than 2 mm).	false
+c201f070e42a191d34eb7ff18fd245542750c0fe	One of these @DISEASE$ related proteins (DPC4) has been cloned as a candidate @PHENOTYPICFEATURE$ suppressor in pancreas carcinomas, suggesting a role for DPC4 in growth regulation by TGF-beta related proteins.	false
+6439d389c97d811b238975c205b8244edbf6c314	Parameters for vasculature (rate constant between extravascular extracellular space and blood plasma [k(ep)] and volume transfer constant [K(trans)]), extracellular space (v(e)), @PHENOTYPICFEATURE$ size (the maximal axial diameter of each included lesion [@DISEASE$]), and metabolism (glucose metabolic rates [MR(glc)]) were derived, and changes during treatment were correlated.	false
+60fb934e5e0d7e1d3bc63084bb8f82fa7432a6f5	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), @DISEASE$ (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+0439eea2d78e4dd352e25b59f6e34bd4ac0da28c	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (@DISEASE$), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+60fb934e5e0d7e1d3bc63084bb8f82fa7432a6f5	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), @DISEASE$ (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+0439eea2d78e4dd352e25b59f6e34bd4ac0da28c	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (@DISEASE$), Hutchison Gilford Progeria syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+4702f3dbf7364a39a5cb75bfc137e3ba7d4888d8	Mxi1 is a member of the @DISEASE$ family of proteins that functions in terminal differentiation, inhibition of cell cycle progression and @PHENOTYPICFEATURE$ suppression, while the Myc protein, which is antagonized by Mxi1, causes renal cystogenesis.	false
+0999fdca8890fc0f54386015ae2079bb8faf3846	@DISEASE$: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, @PHENOTYPICFEATURE$, and mental retardation.	false
+577ac198ecad27cccc9acd15809b9b66016658e4	@DISEASE$ is characterized by absent/hypoplastic patellae, genital and renal abnormalities, @PHENOTYPICFEATURE$, and mental retardation.	false
+9de3bd2b4e93f16ff412e1e94537801c917c7806	Malleolar @PHENOTYPICFEATURE$ was higher in @DISEASE$ than GAD.	false
+0410b568a41200246c535ebd67c1ccc92609d3ad	Major depressive disorder (@DISEASE$) with atypical features is characterized by mood reactivity, increased appetite/weight gain and @PHENOTYPICFEATURE$.	false
+caf88216a1b54d2d8f62b9396f1c1fc538fd23a9	The MDE symptoms significantly more common in BP-II versus @DISEASE$ were weight gain, increased eating, @PHENOTYPICFEATURE$, psychomotor agitation, worthlessness, and diminished ability to concentrate.	false
+d40f19f2067b94edae6c3d3f71be6753a5ba97db	In addition, we assessed the presence of atypical features of @DISEASE$, consisting of mood reactivity and two of four associated features (rejection sensitivity, hyperphagia, @PHENOTYPICFEATURE$, and leaden paralysis).	false
+07594525c405191b1b006ace3c1ac6b53b97ecd2	SAD patients scored significantly higher than non-seasonal @DISEASE$ patients in hyperphagia and @PHENOTYPICFEATURE$, and significantly lower in interpersonal sensitivity and other rejection avoidance.	false
+dd9c30bd4008b9501004b4af7e6c6d29508e3e63	Patients with @DISEASE$ had a markedly increased corneal thickness (0.93-0.98 mm) with epithelial @PHENOTYPICFEATURE$ and a stromal swelling pressure close to zero; suggesting that the stroma was maximally swollen in vivo.	false
+016eb1dea435c3e367d60270f7e4cf81a915a6cf	Congenital hereditary endothelial dystrophy (@DISEASE$) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (@PHENOTYPICFEATURE$) present at birth or shortly thereafter.	false
+a15922a9e149d88714179b84b28e968cac80a54e	Mutations in the human voltage-gated potassium channel KCNQ1 are associated with predisposition to @PHENOTYPICFEATURE$ and various cardiac arrhythmia syndromes including congenital long QT syndrome, @DISEASE$, and sudden infant death syndrome.	false
+b55a09c0a062624a03d7867d3e2a0f95dd895069	These results show that OHC dysfunction contributes to @DISEASE$ hearing loss, OHC function is required for optimum speech in noise performance, and those persons with @PHENOTYPICFEATURE$ exhibit better word discrimination in quiet at or near their audiometric thresholds than normal listeners.	false
+d8c27bfe06714f9558c648c151d99f16230e52e0	Besides one case of @DISEASE$, all @PHENOTYPICFEATURE$ were hormonally non-active.	false
+671729a782dc28b7e123f99b7c8de5d1b01e9964	We report two siblings with the @DISEASE$ in whom longitudinal clinical study has been possible and from whom kidney biopsy specimens were obtained prior to @PHENOTYPICFEATURE$; their renal disease is incompatible with medullary cystic disease.	false
+fc1a5a5b2136b4987b1abcb38ddaee6c264e1a1d	We review the clinical background and presentation of functional adrenal tumors including @DISEASE$, Cushing syndrome, and catecholamine-secreting @PHENOTYPICFEATURE$, as well as their relationship with adrenal anatomy.	false
+a0c0aec82fb90640c58327d39241605f85583373	In the syndrome of cone-shaped epiphyses of the phalanges and @PHENOTYPICFEATURE$ (@DISEASE$), the kidney disease has been previously labeled "nephronophthisis" (now termed "medullary cystic disease").	false
+cee19680dd6f03af89f0ef8992c3acbf766e7019	According to presented papers mRNA expression of analyzed genes is best known in tissue obtained from @PHENOTYPICFEATURE$ excised from patients with @DISEASE$.	false
+d9cdeceb703f4053c060e02a78891b48eaf64b4e	There have been analysed the records of suprarenectomy in 459 patients with @DISEASE$, syndrome of Icenko-Cushing as well as with androsteroma, pheochromocytoma and other @PHENOTYPICFEATURE$, who were operated in the clinic of abdominal surgery of S.P. Fedorov Russian Military Medical Academy.	false
+8dd35d9cca85aa438ff52acbe55b7e4804da2d4a	Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting tumors, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - @DISEASE$, familial hyperaldosteronism 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, Liddle syndrome, deoxycorticosterone-secreting @PHENOTYPICFEATURE$, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes.	false
+d2fcc0b16f09f485d772be0bfe9ffbce4857cc86	Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting @PHENOTYPICFEATURE$, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - @DISEASE$, familial hyperaldosteronism 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, Liddle syndrome, deoxycorticosterone-secreting tumors, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes.	false
+7fa57f48051319d1c83f221b389b01c55822ff6f	Three affected children (a 13-year-old girl and her 7- and 8-year-old brothers) in a sibship of eight had findings consistent with the @DISEASE$ (@PHENOTYPICFEATURE$ associated with Leber's congenital amaurosis, familial juvenile nephronophthisis, and cone-shaped epiphyses of the hands).	false
+faefd52563638865a049ce54301130c540ea1ee3	This study aimed at evaluating lateral extraperitoneal access to adrenals in 233 patients (103 patients with pheochromocytoma, 101 with @DISEASE$, 11 with Cushing syndrome and 18 patients with hormonally inactive @PHENOTYPICFEATURE$) who underwent surgery in our department within 1981-1998.	false
+96c388ceb5f91e99c03311a470c67ba45a19dd61	Two patients with @DISEASE$ and one patient with Cushing syndrome underwent computed tomography (CT)-guided @PHENOTYPICFEATURE$ ablation with a total of 5-11 mL of 50% acetic acid injected into their adrenal nodule (1.3-3.3 cm in diameter).	false
+d1fff94fb7489288ebb49186e0bc1f903f51e99c	Postoperative complications included cataract in the phakic group (100%), transient elevation of intraocular pressure (IOP) (29%), @PHENOTYPICFEATURE$ (8%), proliferative vitreoretinopathy (7%), @DISEASE$ (3%), secondary macular hole (2%), persistent elevation of IOP (1.5%), and persistent hypotony (1%).	false
+247bc4aba8655cac9416ac2e9119d84751e6308f	The principal reasons for rejection were, in decreasing order of frequency: @PHENOTYPICFEATURE$, presbyopia, abnormal corneal curvature, insufficient corneal thickness, unstable refraction, large pupil, irregular astigmatism, @DISEASE$, previous corneal surgery, uncontrollable dry eye, and previously undiagnosed ocular malignancy.	false
+11e2e0e41c577c46931210004a5c1591930b1283	Appropriate management of @DISEASE$ and SND before @PHENOTYPICFEATURE$ surgery can yield more reliable biometric data for surgical planning.	false
+b0bbbe71d979695ad7f08d17f27ca6b6504de46f	Refractive surprise after routine @PHENOTYPICFEATURE$ surgery with multifocal IOLs attributable to corneal @DISEASE$.	false
+68fc2f8fe59a5fd196e78f1d932533bbebce5481	We describe two patients in whom postsurgical refractive error occurred after routine refractive lens exchange @PHENOTYPICFEATURE$ surgery with multifocal intraocular lens insertion most likely attributable to the presence of underlying corneal epithelial basement membrane dystrophy (@DISEASE$).	false
+939c8222a0903ae00585d61594afe843f4343b42	We describe two patients in whom postsurgical refractive error occurred after routine refractive lens exchange @PHENOTYPICFEATURE$ surgery with multifocal intraocular lens insertion most likely attributable to the presence of underlying corneal @DISEASE$ (EBMD).	false
+2cbfc5b34fa750b8e89462cd248ac7e35b33be6c	The authors present the case of a 6-year-old male with @DISEASE$, Chiari malformation type I, shunted benign external @PHENOTYPICFEATURE$ in infancy, and unique cerebrovascular changes.	false
+1ed5789bf39fe399db787cdcfc19a5659ed81921	The results provide an objective evaluation of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5f487a7fa8a003e106b6967eefbf1f6fa17dcc2f	Progressive @PHENOTYPICFEATURE$ in @DISEASE$.	false
+94ac42847420a022395f1a59958d75e5c0f37e40	@DISEASE$ (NS), the most common single-gene cause of congenital heart disease, is an autosomal dominant disorder that also features proportionate short stature, @PHENOTYPICFEATURE$, and an increased risk of myeloproliferative disease.	false
+1fbaed1e9933b62c8c57d73895c7912902bac9a5	@DISEASE$ is a common human autosomal dominant birth defect, characterized by short stature, @PHENOTYPICFEATURE$, heart defects and possibly increased risk of leukemia.	false
+83f651ebea8760ef071f16fc8c832a3f91162700	We present an unusual association between @DISEASE$ and tetraventricular @PHENOTYPICFEATURE$, caused by fourth ventricle outlet obstruction, in a 5-year-old boy.	false
+fd5a3fcaf87fd9c684e3ba6d1c3801877ef59570	The patient presented with postnatal-onset failure-to-thrive, developmental delay, @PHENOTYPICFEATURE$, velopalatal incompetence, pectus excavatum, coarctation of aorta, atrial and ventricular septal defects, decreased muscle tone, and minor facial anomalies consistent with @DISEASE$.	false
+67fc10f4fc9a143d4ec2206a35fa1c44073a444c	In the presented cases we show that suspicion of @DISEASE$ should arise when, after an increased nuchal translucency, ultrasound investigation in the second trimester shows a persistant nuchal fold (NF) or cystic hygroma in combination with at least one of the following features: hydrops fetalis, pleural effusion, cardiac anomalies, polyhydramnios or specific @PHENOTYPICFEATURE$.	false
+6e13c909418c81304efe16e00470aa1a0037dfc0	The @DISEASE$ is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and @PHENOTYPICFEATURE$.	false
+37c23cf7e1d9534d7a615cf883cf63a1da9d0a24	Those with Noonan syndrome or CFC syndrome had a high instance of serious cervical spine disorders, including cervical stenosis, Arnold-Chiari malformation, and syringomyelia in the @DISEASE$ individuals and @PHENOTYPICFEATURE$, cervical stenosis, torticollis, and Arnold-Chiari in the CFC syndrome individuals.	false
+5c572845c52681756869fc5e5cf6bc5ca8b802e8	Those with @DISEASE$ or CFC syndrome had a high instance of serious cervical spine disorders, including cervical stenosis, Arnold-Chiari malformation, and syringomyelia in the Noonan syndrome individuals and @PHENOTYPICFEATURE$, cervical stenosis, torticollis, and Arnold-Chiari in the CFC syndrome individuals.	false
+92afa328d571c6dad3c67af1c71991f06ba426c3	The @DISEASE$ is classically described as the association of a unilateral tumefaction, a facial @PHENOTYPICFEATURE$ and of a furrowing of the tongue.	false
+36c8eec973d0d3071533b08a771bfab52215a656	Further delineation of @DISEASE$: A RSPRY1-associated spondylo-epi-@PHENOTYPICFEATURE$ with cono-brachydactyly and craniosynostosis.	false
+b157df3841a5a4ed4cf75271a0c3ec9a595e791f	Primary peritoneal carcinoma, like @DISEASE$, usually causes non-specific @PHENOTYPICFEATURE$, and often presents at a late stage.	false
+ad4daca5e46c7ce5d9bf456473013df639c57c89	Although polycystic ovary syndrome (PCOS) is associated with hyperandrogenism and @PHENOTYPICFEATURE$ early in life, it is a harbinger of a lifelong condition that can lead to serious sequelae such as endometrial or @DISEASE$, diabetes mellitus, and coronary artery disease.	false
+a9b5ece16de74bb37589b2edbcb7107bc2761a16	Among home health care patients who were 65 years and @DISEASE$ was more prevalent among men, and essential @PHENOTYPICFEATURE$ was more common among women.	false
+b3ac690424788163aa1fb36a9e5740ec5dd2acad	Finally, we highlight the power of our label-free and high throughput technology by characterizing @PHENOTYPICFEATURE$ cell lines with different metastatic potentials and distinguishing drug resistant @DISEASE$ cells from their parental cell line.	false
+f47d7227f5dce5c47d0ff78423d436e512b14e5c	Nanobacteria are suspected to be responsible for a number of diseases, i.e., kidney stones, heart disease, @DISEASE$, peripheral neuropathy, and @PHENOTYPICFEATURE$.	false
+3b7c18536a2d7c4a65ac219c211d664e191c4501	Ten of 11 patients with @DISEASE$ receiving cisplatin developed a distal @PHENOTYPICFEATURE$, manifested early by decreased vibratory sensibility in toes and depressed ankle jerks and later by uncomfortable paresthesias.	false
+cf3f997d9009c515ac786e07a631d936de9e7144	The era of precision oncology is marked with prominent successes in the therapy of advanced soft tissue sarcomas, breast cancer, @DISEASE$ and @PHENOTYPICFEATURE$, among others.	false
+7f81fc32a65c3219c0bb066771263f419dfb6c08	High-grade serous @PHENOTYPICFEATURE$ (HGSC) is the most common and deadliest form of @DISEASE$.	false
+efa35e1fd2b3c57bd6af494271d26deda6a110e8	In human neoplasms, miR-493-3p and Mad2 expression alterations correlated with advanced @DISEASE$ forms and high miR-493-3p levels were associated with reduced survival of ovarian and breast cancer patients with @PHENOTYPICFEATURE$ tumors, especially in the paclitaxel therapy arm.	false
+9e4fc096831424b257b4bcaf10e4e9e6d498b1df	Bortezomib, an approved drug for the treatment of certain @PHENOTYPICFEATURE$, is currently being tested in clinical trials as a potential therapeutic agent against several types of solid cancer, including @DISEASE$.	false
+141bf129d5bfc0d9f7f28bf0ed9fc73f6390d410	Geleophysic dysplasia and @DISEASE$ are acromelic dysplasias characterized by short stature, brachydactyly, and @PHENOTYPICFEATURE$.	false
+68755370adb46396a719868ff26689f1dfd31156	@DISEASE$-Weber-Christian's panniculitis is a rare syndrome characterized by @PHENOTYPICFEATURE$, arthralgias, fatigue and recurrent nodular panniculitis.	false
+60c2eb80ecd3cfb49aff6265f6fcf3ed7ee6eb8d	This prospective randomized study included 162 patients with the following diagnoses: cerebral palsy, developmental hip dysplasia, @DISEASE$, epiphyseolysis of the femoral head, and @PHENOTYPICFEATURE$.	false
+220e62008b5500c21ed3da7bc052b10d16db0d6f	DWI has been shown to be useful in assessing a patient's skeletal @PHENOTYPICFEATURE$ burden, monitoring the post-chemotherapy response of various bony malignancies, detecting hip ischaemia in patients with @DISEASE$, as well as determining the quality of repaired articular cartilage.	false
+053ae65141a44a9e045613e2c2904c2a20988f4d	Their diagnoses included: femoroacetabular impingement (n=25), @PHENOTYPICFEATURE$ (16), @DISEASE$ (11), and slipped capital femoral epiphysis (6).	false
+ed7fa62ffd847f714502cce89a489dbe69e9c5a5	The problems of diagnosis and treatment of the most common hip joint diseases in children (transient synovitis, rheumatoid arthritis, osteomyelitis, Legg-@DISEASE$, slipped capital femoral epiphysis, dysplasia, @PHENOTYPICFEATURE$) are discussed.	false
+ee0aa7632e4674353b62ea4ca88a4bfbaf0786f7	The causes of limb length discrepancy included traumatic and septic growth arrest, congenital pseudoarthrosis of tibia, fibular hemimelia, @PHENOTYPICFEATURE$ salvage, and @DISEASE$.	false
+e862ace57b4ac5b1cc13033192dfb8e27d1368bb	Bone scintigraphy can shed light on the etiologic diagnosis of a painful hip at the beginning of its evolution, before definite roentgenographic signs appear, thanks to some very precise characteristics of the uptake, this is the case for transient osteoporosis of the hip, aseptic osteonecrosis, Legg-@DISEASE$, early @PHENOTYPICFEATURE$ of the hip joint, and stress fractures of the femoral neck or of the pubic rami.	false
+b29751808e4308d12c70afd9c88c88045ee7d0bf	@DISEASE$, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe @PHENOTYPICFEATURE$.	false
+00d2fb2ddbcaae5e2104a900735e59f811464a9d	We classified their phenotype as a new intermediate form between @DISEASE$ and multiple epiphyseal dysplasia, manifested by shortening of stature, metatarsus adductus/club foot, mild @PHENOTYPICFEATURE$, proximally placed thumbs and clinodactyly of the fifth fingers.	false
+a5e5c9f5d8d6074bb6eb117f2a844f79b428d7a1	We illustrate the procedure with data on cystic fibrosis and @DISEASE$, for which the method appears appropriate, and for Friedreich @PHENOTYPICFEATURE$ and Huntington disease, for which it does not.	false
+912dd7860c903ede4ecdddf616fa5c050756cf26	The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, @PHENOTYPICFEATURE$, and clubbed feet resultant from mutations in gene defect @DISEASE$ (DTDST).	false
+c532219e20793a40bc1a80318ddea3ed6418c784	An unusual @PHENOTYPICFEATURE$ of the pigment epithelium and retina simulating @DISEASE$ and retinoblastoma.	false
+21aa9c87780fdd58e87a85ca57d16c25a4c89283	Combined @PHENOTYPICFEATURE$ of the retina and retinal pigment epithelimicrom, a rare and benign tumor, can be easily mistaken for malignant processes such as retinoblastoma or @DISEASE$.	false
+d3d44a86437c5f010b1e12df3519797b72fedd28	These modifications made it possible to differentiate the @PHENOTYPICFEATURE$ from @DISEASE$.	false
+1aa46add42ccaf7586e18083fb114b669d5dd9ac	Juxtapapillary @PHENOTYPICFEATURE$ of the pigment epithelium and retina is a benign tumour, but its importance is derived from a possible misdiagnosis being made of @DISEASE$.	false
+93ae9eb350332b958f5fa47972571969d3d79865	We review the clincial and histologic features that differentiate massive retinal gliosis from @DISEASE$ and astrocytic @PHENOTYPICFEATURE$.	false
+c532219e20793a40bc1a80318ddea3ed6418c784	An unusual @PHENOTYPICFEATURE$ of the pigment epithelium and retina simulating @DISEASE$ and retinoblastoma.	false
+365ef2c8147f1b659c0cbd05624f67fd68fe2341	@PHENOTYPICFEATURE$ of the optic disc is a rare disease but a very important one for differential diagnosis with @DISEASE$.	false
+a1932b02a2b0be29a13f9b8fed7d6081fa919f58	Neurofibromatosis Type 1 may present in the ocular fundus with a variety of lesion types, including vasoproliferative tumors, @PHENOTYPICFEATURE$, @DISEASE$, and hemangioma.	false
+bf47fae05ff6cda3ea0a258443bbf3fa65114e6e	@DISEASE$ is a rare congenital @PHENOTYPICFEATURE$.	false
+06ff2ff6a1ed5d45e7b876322a538f944e46a48e	Our results confirm the predominant role of PRRT2 mutations in BFIS and expand the spectrum of PRRT2-associated phenotypes to include febrile seizures, childhood @PHENOTYPICFEATURE$, migraine, and @DISEASE$.	false
+c85d697a7f8a17cb8b8e0f1dd2ef4d1f0a6c175b	@DISEASE$ is frequently complicated by extrapulmonary symptoms such as @PHENOTYPICFEATURE$.	false
+ef1dec648d32b917b7fe4ae74520572c5c636de2	Patients with @PHENOTYPICFEATURE$ and @DISEASE$ deserve full evaluation to exclude other entities.	false
+a0c0084d7f17ca12b15d06d347c186b27e76ab3a	Common external and internal features which characterize the @DISEASE$ syndrome are low-set ears, hypertelorism, colobomata, @PHENOTYPICFEATURE$, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals.	false
+40eb21f1b293035242a413ab2239ca3bc7ec728e	The @DISEASE$ syndrome is characterized by general dysmaturity and the following features: @PHENOTYPICFEATURE$; large placenta with frequent hydatidiform changes; large posterior fontanel; low-set dysmorphic auricles; hypertelorism; microphthalmia and colobomata; cutaneous syndactyly of fingers three and four; simian crease; maldeveloped external genitalia; hypospadias; cryptorchidism and Leydigian cell hyperplasia of the testes in XXY males and hypoplastic adrenals.	false
+bf372db1c0f1856665dd3af0edcd274af210d175	Intracerebroventricular (i.c.v.) injection of rutin dose-dependently affected minimal clonic seizures (@DISEASE$) and @PHENOTYPICFEATURE$ (GTCS) induced by PTZ, through increments in seizure onset.	false
+23caf844d3b7675e9d2b4f2c82f70688d53959cd	In PTZ test, latency to the first minimal clonic seizure (@DISEASE$), latency to the first @PHENOTYPICFEATURE$ (GTCS), the total duration of seizures and protection against mortality were evaluated.	false
+dd4377a8fd1a938c237c3b07b6eafc291c2ffd82	Latency to first minimal clonic seizure (@DISEASE$) and the first @PHENOTYPICFEATURE$ (GTCS) were recorded.	false
+1844655ed1e4119b7911235aad896dc5313c192d	Seizure incidence, including @PHENOTYPICFEATURE$ (GTCS) and minimal clonic seizure (@DISEASE$), was directly associated with PTZ administration in rats.	false
+5378e458e2c92a18cb9c05a0a536018a3d3a9a4d	The latencies to minimal clonic seizures (@DISEASE$) and @PHENOTYPICFEATURE$ (GTCS) after intraperitoneal injection of penetylenetetrazole (PTZ, 90 mg/kg) was recorded and compared between groups.	false
+e7905ae70a75b4fe60557b96ca521fc031ecffae	Latency to the first minimal clonic seizure (@DISEASE$) and @PHENOTYPICFEATURE$ (GTCS) and the percent of mortality of rats in each group were recorded.	false
+c21ae267ad53edecffea03f0023940d28ad92d0a	Latency to first minimal colonic seizure (@DISEASE$) and the first @PHENOTYPICFEATURE$ (GTCS) as well as the mortality rate were recorded.	false
+23a2d15ea75b94ac77d82ce172ab5eeb0ee6898e	Latencies to the first minimal clonic seizures (@DISEASE$) and the first @PHENOTYPICFEATURE$ (GTCS) were recorded.	false
+6fcfc3e96c4ae8e63a6fa0eaedf6fce9e3da661a	Latency to the first minimal clonic seizure (@DISEASE$) and @PHENOTYPICFEATURE$ (GTCS) and the percent of mortality were recorded.	false
+267e6202b5323e084d367ffd515b88fc9d7e2d08	The latencies to minimal clonic seizures (@DISEASE$) and @PHENOTYPICFEATURE$ (GTCS), were recorded.	false
+dc700d780d4f30b68a64e21be146c7ba3ddbb55d	Symptoms attributed to @DISEASE$, including nausea and @PHENOTYPICFEATURE$, were less consistently relieved.	false
+01471da9922edcfff95d1ec79904e412a4c08eb6	Arthrogryposis and fetal AChR inactivation syndrome with @PHENOTYPICFEATURE$ and @DISEASE$ myopathy are rare events caused by mother's antibodies against fetal type AChR.	false
+585193c33437e3ab9426dd2b215b8c8ef75eb7f7	This neuroprotective efficacy has been demonstrated in animal models of transient and @DISEASE$ focal @PHENOTYPICFEATURE$, global brain ischemia, embolic stroke, and chronic cerebral hypoperfusion.	false
+949345a2057d06a97a6be5916fc5a627982dcb6e	Three of the six patients who presented fever, @PHENOTYPICFEATURE$ and did not undergo hemodialysis developed @DISEASE$ cerebellar deficits.	false
+7f7d786c43cfc6954d582ca77120cfaf4d675196	Progressive and @DISEASE$ @PHENOTYPICFEATURE$ is most frequently treated with hemodialysis.	false
+e42dd8398c5c43bf9e4a86c24e2c95673daa54a8	Two patients (2.9%) developed @DISEASE$ @PHENOTYPICFEATURE$ postoperatively (neither related to renal artery occlusion).	false
+6cafaf6425dee8090f67c67d6bc8302d72ef2d93	Chronic neonatal hypoxia resulted in @DISEASE$ @PHENOTYPICFEATURE$.	false
+a8a468c4506c364d2650a8262875325fd1058f3d	There was no perioperative mortality, paraplegia, or @DISEASE$ @PHENOTYPICFEATURE$.	false
+22e12bb7f520c4155ddba6784ddcbcc0eef4c4cb	We used a mouse model of @DISEASE$ focal @PHENOTYPICFEATURE$ via middle cerebral artery occlusion to verify our hypothesis.	false
+d54850811ec72369a26e163576e4f8af47c2bfa5	@DISEASE$ paraplegia and @PHENOTYPICFEATURE$ rate was 0. Mean follow-up was 13.5 months.	false
+5e9e085a78d56fd442baff7e80943105b701cade	Wolcott-Rallison syndrome (WRS) is a rare condition characterized by @DISEASE$ neonatal diabetes (PND), @PHENOTYPICFEATURE$, and recurrent hepatitis.	false
+8df83d42802af2bdcbbef394742ecddbe4a98b3b	[Micromelia and @PHENOTYPICFEATURE$ due to @DISEASE$].	false
+80de365f11ce61b06b00f3012829cbf8fa3de7fa	@PHENOTYPICFEATURE$ in patients with @DISEASE$ assessed with optical coherence tomography angiography.	false
+83529d26d68e4b24bb5413d1c1a0d9a886bf79e9	Dysferlin is a protein of the sarcolemma that is mutated in patients with limb girdle muscular dystrophy 2B, @DISEASE$, and distal anterior @PHENOTYPICFEATURE$.	false
+87061ab37db2365cf77537e26fc585ba543c6a18	[@DISEASE$: cytogenetic study of the @PHENOTYPICFEATURE$].	false
+0b3070c50c9d5fde34e33c7751c0962d073ae911	@DISEASE$: host resistance and second primary @PHENOTYPICFEATURE$.	false
+167ceaadc3108e773ad60520f7eeb95c8b65572c	Second primary @PHENOTYPICFEATURE$ in @DISEASE$.	false
+da3126a5b041f6c8345d8d4298ef68a867db4ef6	We aimed to characterise non-@DISEASE$ @PHENOTYPICFEATURE$ with no detectable RB1 mutations.	false
+8a541ddb765d4ca361ed71bb5189485c1a8760e1	Implications of PLDR for susceptibility to radiation-induced and spontaneous @PHENOTYPICFEATURE$ in @DISEASE$ patients are discussed.	false
+c069c9c6f356594b8fa3e42d875216fc86e6d01a	While @DISEASE$ has served as the paradigm for the two-hit theory of tumorigenesis and for the concept of the @PHENOTYPICFEATURE$ suppressor gene, the etiology of incomplete penetrance of familial retinoblastoma is poorly understood.	false
+16fe2b756a7c20112b088cd18e9b3215dce6a627	While familial retinoblastoma has served as the paradigm for the two-hit theory of tumorigenesis and for the concept of the @PHENOTYPICFEATURE$ suppressor gene, the etiology of incomplete penetrance of @DISEASE$ is poorly understood.	false
+5008da5f90f5f99db1135cccadd300676cec25c8	Distribution of @PHENOTYPICFEATURE$ in the retina in @DISEASE$ patients.	false
+efbe3d5d30a03e841542d993597a20bd36e554e7	Aggressive management of second primary @PHENOTYPICFEATURE$ in survivors of @DISEASE$.	false
+9b1c043081a177dbd33d1f0b343beb2c83951107	Such @PHENOTYPICFEATURE$ cause significant rates of mortality in children suffering from @DISEASE$.	false
+7318796a6da478d3153b7b83a7f773dcf1063949	Patients with @DISEASE$, have an increased risk of developing additional @PHENOTYPICFEATURE$, predominantly sarcomas.	false
+b9c5e7b009df762dfd82b9897280955b0743fe02	The parameter to measure the benefit of adjunctive corticosteroid included 1) severity of @DISEASE$) liver impairment, 3) the days of illness as determined by @PHENOTYPICFEATURE$ and 4) the length of the hospital days.	false
+f47c245e1dbfaf867502c2a1f247f8e1f8047c88	@DISEASE$ (SMD) (OMIM 602271) is an uncommon @PHENOTYPICFEATURE$ characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities.	false
+6434a3dfa6ce8ef4b076a76caf2d52a5457cdc7e	@DISEASE$ in a 20-year-old patient diagnosed following a complaint of @PHENOTYPICFEATURE$.	false
+62b572d20fb5a27b1372986085560f3d4a7bc2ae	In a group of patients with @DISEASE$ with unknown aetiology, we have previously described a distinct phenotype with severe, early @PHENOTYPICFEATURE$ and variable eye malformations, including optic nerve hypoplasia, retinal coloboma, congenital cataract and glaucoma.	false
+55f65b9b59045b966d17cc484df2a9f894549553	The spectrum of intermittent presentations in @DISEASE$ deficiency includes episodic ataxia, intermittent peripheral weakness, recurrent dystonia and extrapyramidal @PHENOTYPICFEATURE$.	false
+ce1065eb6c5442bcfd6322ac1bdd652c1d29ab30	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, @DISEASE$, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+ffda5a0e57ee7f128c02349d6e3ece3a0a35e50b	By 6 months of age, ABCA1-/- animals develop @DISEASE$ due to deposition of immunocomplexes followed by cardiomegaly with @PHENOTYPICFEATURE$ and hypertrophy, ultimately succumbing to congestive heart failure.	false
+503cb22d896dc8363d9f210d5ffc576766c9f044	We report a case of a splenic @PHENOTYPICFEATURE$ in a 14-year-old boy associated with @DISEASE$, multiple lobular capillary hemangiomas of the skin, hypertension, and anemia.	false
+3fc689e181c3303b9ca1fdd5288b555a2d2ade96	Dysmorphic @DISEASE$ features included @PHENOTYPICFEATURE$, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair.	false
+f590f2a4f05ab761ee0700b75038191afef93dbd	Dysmorphic @DISEASE$ features included hypertelorism, epicanthus, blue sclerae, broad nasal root, @PHENOTYPICFEATURE$, low-set ears, sparse blond hair.	false
+1586a2cb5dab6f65614f449c84840c91f9f778d4	The proband postnatally manifested dysmorphic @DISEASE$ features of microcephaly, hypertelorism, low-set ears, a broad nasal bridge, a @PHENOTYPICFEATURE$, and overriding toes.	false
+120546ddc7387f156d96041a5094300accc02296	The proband postnatally manifested dysmorphic @DISEASE$ features of microcephaly, @PHENOTYPICFEATURE$, low-set ears, a broad nasal bridge, a thin upper lip, and overriding toes.	false
+600d11ca891229802c9caa3f1e7fb71d49e30e43	The clinical manifestations are mild mental retardation, @PHENOTYPICFEATURE$ with accelerated bone age, minor @DISEASE$ anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal.	false
+8aba3ac1c61a2be10c8b72aa213f982a41b58a7a	The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor @DISEASE$ anomalies including broad forehead, mild @PHENOTYPICFEATURE$, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal.	false
+5065c3680c203c79656172afee293bd61c1f2c77	The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor @DISEASE$ anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, @PHENOTYPICFEATURE$ and large ears, and unique behavior characteristics with some social withdrawal.	false
+1072f808ff21d595b44383fb68b53b87e9042191	The characteristic clinical features of developmental delay and distinctive @DISEASE$ features (including arched eyebrows, hypertelorism, epicanthus, and @PHENOTYPICFEATURE$) were seen both in the previously reported patient and in the two newly identified patients.	false
+db3bc55579d081a4c3acd6cc6223f3a19d75ddec	The characteristic clinical features of developmental delay and distinctive @DISEASE$ features (including arched eyebrows, @PHENOTYPICFEATURE$, epicanthus, and micrognathia) were seen both in the previously reported patient and in the two newly identified patients.	false
+89bb101ed8d3fae6a6d2f4f083d4470e8525896c	We describe a 4-year-old boy with various @DISEASE$ dysmorphic features such as downslanting palpebral fissures, ptosis, @PHENOTYPICFEATURE$, broad nasal bridge, small and low-set ears, broad philtrum, and micrognathia.	false
+90b3df2876b35df6abb568279d0f48b3faf7d9f9	We describe a 4-year-old boy with various @DISEASE$ dysmorphic features such as downslanting palpebral fissures, ptosis, hypertelorism, broad nasal bridge, small and low-set ears, broad philtrum, and @PHENOTYPICFEATURE$.	false
+750875ffbf3239ad158f8c79db178e4630a3fa6a	@PHENOTYPICFEATURE$, intellectual disability, @DISEASE$ anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.	false
+c95dcad18699cca6593eb0d051b5c880a0fb1863	Growth retardation, intellectual disability, @DISEASE$ anomalies, cataract, @PHENOTYPICFEATURE$, and skeletal abnormalities: a novel phenotype.	false
+c7bbea49476afd570d57c1ce2b58860e264bb050	Each episode was characterized by flushing, @DISEASE$ edema, mild diarrhea, necrosis of hepatic metastatic nodules, mild oliguria, hyponatremia, acidosis, hypokalemia, hypomagnesemia and @PHENOTYPICFEATURE$.	false
+59f1dd52b9923d0b264cf77ac35557c37130a861	Each episode was characterized by flushing, @DISEASE$ edema, mild diarrhea, necrosis of hepatic metastatic nodules, mild oliguria, hyponatremia, acidosis, hypokalemia, @PHENOTYPICFEATURE$ and hyperphosphatemia.	false
+1ee5697df9583cf7d265a16e52f21e16dc42f566	Two cases of fetal @DISEASE$ anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe @PHENOTYPICFEATURE$.	false
+a4c40fbb57fdd86afb1cdf61d6226fe9878cf4e0	Two cases of fetal @DISEASE$ anomaly were studied using these combined techniques; one had severe @PHENOTYPICFEATURE$ and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism.	false
+3c4588c7b4eaf9597a9253cb02f00e60666da86d	A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor @DISEASE$ anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, @PHENOTYPICFEATURE$, narrow palate, micrognathia and low-set ears.	false
+b6fcda0d6d3bcfe77cd875f386842809246e7161	A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor @DISEASE$ anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, @PHENOTYPICFEATURE$ and low-set ears.	false
+218192d836c3306f3be3a24620b1adfb0a5f5773	We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of @DISEASE$ dysmorphic features consisting of @PHENOTYPICFEATURE$, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears.	false
+845f1861feca5520ea7baf9b69a8d39eadcd6f03	We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of @DISEASE$ dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with @PHENOTYPICFEATURE$, and protruding ears.	false
+d2c0c04d6275e674331fda3fd33dcf66fb041451	@DISEASE$ (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and @PHENOTYPICFEATURE$.	false
+423a747d9558d98af459f6feaede025557debcd9	@DISEASE$ is a rare disease, with multiple limb and @PHENOTYPICFEATURE$ (called "pseudothalidomide disease").	false
+fd6b8cd43dbfd7f420b53485c57b88834b52b286	Twin 1 showed subcutaneous edema, pleural effusion, and @PHENOTYPICFEATURE$, suggestive of lethal skeletal dysplasia (@DISEASE$).	false
+84d2fd72d98d490e64af40ff26283a2fb55f036d	@DISEASE$ (RBS) is a rare genetic disorder characterized by craniofacial @PHENOTYPICFEATURE$ malformation, and often severe mental retardation.	false
+2f7f068b2a9dc8856b6d964ca3b125f02e106e5d	We describe two patients with unusual asymptomatic, papular lesions on the vulva, clinically resembling lichen planus, the histology of which revealed unexpected findings of suprabasilar clefting, acantholysis and dyskeratotic cells giving rise to corps ronds and grains together with @PHENOTYPICFEATURE$ and parakeratosis, features originally associated with a diagnosis of @DISEASE$.	false
+8a2f028c8ed5fad1d3b8c1ea4c91d46ec1b08e3e	@DISEASE$, a genetically transmitted, autosomal dominant @PHENOTYPICFEATURE$ is a condition only occasionally described in the dental literature.	false
+f8e95aa18506a72374a53dfea878672f371ae967	Besides palmar and plantar @PHENOTYPICFEATURE$, botulinum toxin has demonstrated efficacy in different conditions associated with hyperhidrosis, such as dyshidrosis, multiple eccrine hidrocystomas, hidradenitis suppurativa, Frey syndrome, but also in different conditions worsened by hyperhidrosis such as Hailey-Hailey disease, @DISEASE$, inversed psoriasis, aquagenic palmoplantar keratoderma, pachyonychia congenital.	false
+c97524352bbe9aa6da70e895c05aa1757b016ade	@PHENOTYPICFEATURE$ vaccinatum and eczema herpeticum in @DISEASE$.	false
+e015f35e112210bfede6e3c2ddb760abc5f86f2d	Thirty-three patients (21 adults and 12 children or adolescents) with ichthyoses, @PHENOTYPICFEATURE$, or @DISEASE$ were treated for a period of 4 months.	false
+6fea016bc36c8d07d96f6304836d1e12f80badf9	@PHENOTYPICFEATURE$ with @DISEASE$ and hyperostosis: a new phenotype due to GJA1 mutation.	false
+349d0210cc1570c44f432eb74864a4f81f6ac209	Among the 39 cases with identified etiologies, inherited metabolic diseases were on top of the list, including 6 kinds and 27 cases in total, i.e., neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, 21 cases), transient galactosemia, tyrosinemia type I, galactose kinase deficiency, ornithine carbamoyl transferase deficiency and @DISEASE$, followed by acquired causes (7 cases in total), such as total parenteral nutrition associated cholestasis (TPNAC), congenital syphilis and CMV hepatitis; and then biliary tract malformation (5 cases in total), including @PHENOTYPICFEATURE$, Caroli's disease and gallbladder polyp, were the third.	false
+1d94dde8fdd4303bf03e97ba11ce223bb819c346	General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause 'fetal disease' than defects of the respiratory chain; (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically Leigh syndrome, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the @DISEASE$ (@PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the 'new frontier' in mitochondrial translational research.	false
+a04529111eb051d8b349f2140284203c5ad433e4	@DISEASE$ (@PHENOTYPICFEATURE$, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance.	false
+4630e823b03187f3eebce2e8911b4585d57a3ec4	We report a new recessively inherited syndrome consisting of foveal hypoplasia, optic nerve decussation defects and @PHENOTYPICFEATURE$, which we have abbreviated to @DISEASE$.	false
+8f9896f0180ae1dd93d81f9c706e39932df8065c	Autosomal recessive @DISEASE$ is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable @PHENOTYPICFEATURE$.	false
+834da2b62cb384a6e42de6419c9097bd0e3bbf37	A 10-year-old boy presented with @DISEASE$ and progressive @PHENOTYPICFEATURE$.	false
+f57eadd48dd71834b0e513f2828a82638232da01	proximal deletions have been previously reported, with a variable phenotype that includes heterotaxy, @DISEASE$, midline brain defects associated with panhypopituitarism, @PHENOTYPICFEATURE$, scoliosis, and seizures.	false
+91669a63e4d4e6beeef86b0abcbf355ecec235d2	@PHENOTYPICFEATURE$ without anencephaly, cleft palate, lung agenesis or dysgenesis, and @DISEASE$ were associated with a higher risk of being hospitalized with RSV lower respiratory tract infection and an increased severity of disease when hospitalized.	false
+0ea317c8fa7b5bfb3df14770c316cbacfd10c40b	However, @PHENOTYPICFEATURE$ in association with @DISEASE$ is rare.	false
+8dbff0b9d701c4b9ea827a74b5965f7247aeed1d	We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median @DISEASE$ ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, @PHENOTYPICFEATURE$, talipes equinovarus, Dandy-Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts.	false
+b7c592c7d70ae7681106a41e5aa01c9887047694	@DISEASE$: a new autosomal recessive variant with @PHENOTYPICFEATURE$.	false
+2873127fdf2a9ff19f519c438e035283a72f74f4	Familial @DISEASE$, @PHENOTYPICFEATURE$, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders.	false
+4ce0a70326af8a5bc1dfd4e6c113f11f090028a9	To characterize a kindred of Chiloe Islanders with @DISEASE$ (SEDT), @PHENOTYPICFEATURE$, precocious osteoarthritis (OA), and intraarticular calcification.	false
+0088ec723e8849514b78dbd315dfcde3cccb8ee7	Mutations in the TRAPP complex subunit 2 (TRAPPC2) cause X-linked @DISEASE$, while mutations in the TRAPP complex subunit 9 (TRAPPC9) cause postnatal @PHENOTYPICFEATURE$ with microcephaly.	false
+de2fef60fbdaa1dda1d5e03b4996ef592300108c	@DISEASE$ was found in 87% of the patients, and @PHENOTYPICFEATURE$ confirmed by audiograms was present in 64.5%.	false
+8e63a90859aa09201beb0f41ce382941af5f2387	Here, we report a pediatric patient with a novel de novo variant in the fifth exon of TFAP2B, c.917C?>?T (p.Thr306Met), who presented with PDA, patent foramen ovale, postaxial polydactyly of the left fifth toe and clinodactyly of the left fourth toe, @PHENOTYPICFEATURE$, scoliosis, dental anomalies, and @DISEASE$ (CDI).	false
+b69eae0b89fb244967609074a3303c45cc253946	Optic atrophy was present in all, @PHENOTYPICFEATURE$ in 4/7, @DISEASE$ in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects.	false
+dbe29e7f6e94ecfeb44f287fcca5c95ee55fde72	The frequency of systemic findings was as follows: optic atrophy (100%), diabetes mellitus (92.3%), @DISEASE$ (38.5%), @PHENOTYPICFEATURE$ (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases.	false
+97bbb90e68fe745c5dbec761fa97add8d1191860	Predictors of readmission with @DISEASE$ include female sex, history of renal failure/electrolyte imbalances, @PHENOTYPICFEATURE$/coagulation defects, and being discharged home.	false
+2f78556c8ce8a09ff32790dae02d34d9ea9ecd80	Indices of @DISEASE$ were significantly associated with headache, @PHENOTYPICFEATURE$, dyspnea and nausea.	false
+b2c8925ae17e72405e00c4f373d082027f3cd517	Primary neonatal @DISEASE$--an unusual cause of @PHENOTYPICFEATURE$.	false
+90b346ebf5fca7ad72f4ffd2df8528296369005a	CaSR inactivating mutations cause neonatal severe @DISEASE$, characterised by marked hypercalcaemia, skeletal demineralisation and @PHENOTYPICFEATURE$ in early infancy; and familial hypocalciuric hypercalcaemia, an often asymptomatic disorder associated with mild-moderately elevated serum calcium concentrations.	false
+934371b46e5fb3ff258f181687c43d9df58ca9bb	In five cases described in detail (one case each of @DISEASE$, vasculitis, @PHENOTYPICFEATURE$, brain stem infarction, and subarachnoid hemorrhage), an etiologic connection with lithium exposure was considered unlikely but could not be ruled out.	false
+06b68249ad04f8f24e9e587911bfc30426e0a40c	We described three unrelated Saudi children who presented with neonatal @DISEASE$, @PHENOTYPICFEATURE$, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities.	false
+5b7fc0ee686213b4187cc48a1e280ff72f1eb37b	Bigeminal @PHENOTYPICFEATURE$ associated with @DISEASE$ crisis.	false
+6cad60bd9d60634b28dca58868b772e444dc772c	The indication for parathyroidectomy were clinical symptoms such as pruritus, bone and @PHENOTYPICFEATURE$, neuromuscular disorders and radiological skeletal abnormalities pointing to @DISEASE$ (HPT).	false
+179ecc74cb367c0a9e13f57fb3aac0be7394fc8a	Biallelic CASR mutations cause neonatal severe @DISEASE$, a life-threatening condition that presents within days of life with marked hypercalcemia, respiratory distress, @PHENOTYPICFEATURE$, and skeletal demineralization.	false
+b96810f2045e835e8caa75011fabd813b168eacf	Mutations in apo-B100 can cause either hypocholesterolemia or @PHENOTYPICFEATURE$. @DISEASE$, which leads to hypocholesterolemia, has been shown to be caused by defects in the apo-B gene that terminate translation prematurely and result in the production of truncated proteins.	false
+721ff2bdd609ef9fde044ce5aa23ceb071bf466b	Whereas PCSK9 gain-of-function (GOF) mutations are associated with autosomal dominant @PHENOTYPICFEATURE$ (ADH) and premature atherosclerosis, PCSK9 loss-of-function (LOF) mutations have a cardio-protective effect and in some cases can lead to @DISEASE$ (FHBL).	false
+6e9eb9bac825913e95b6f3fe5bdb1e92119986c0	HMB-45, an antibody directed against a premelanosome glycoprotein, although used predominantly for the diagnosis of MM, has shown consistent staining in angiomyolipoma (AML), lymphangiomyoma/@DISEASE$ (LAM), and clear cell sugar tumor (CCST), a group of @PHENOTYPICFEATURE$ proposed to be related on the basis of their common perivascular epithelioid cells, which exhibit various degrees of smooth muscle differentiation, melanogenesis, and intracytoplasmic membrane bound granules.	false
+eb217499ee6d17635f94718c423cee57dbb80919	@DISEASE$ (LAM) is a rare lung disease caused by mutations of the @PHENOTYPICFEATURE$ suppressor genes, tuberous sclerosis complex (TSC) 1 or TSC2.	false
+0632e75a0f77c35c30b2ad678dbb4c55e441ae64	@DISEASE$ (LAM) is a rare lung disease caused by mutations in the @PHENOTYPICFEATURE$ suppressor genes encoding Tuberous Sclerosis Complex (TSC) 1 and TSC2.	false
+816c67c9bb2267ffa3dc1e0ffa70166ecbc77a71	@DISEASE$ (LAM), a rare progressive lung disease associated with mutations of the tuberous sclerosis complex 2 (Tsc2) @PHENOTYPICFEATURE$ suppressor gene, manifests by neoplastic growth of LAM cells, induction of cystic lung destruction, and respiratory failure.	false
+ca8dc7999d5df99813a0027bf1a93dd62865a624	@DISEASE$ (PLAM) is a rare @PHENOTYPICFEATURE$ with unique clinicopathological features.	false
+0fa23aff46901765851f87ff9879e4c06bd321d3	PEComa is a rare @PHENOTYPICFEATURE$, which includes angiomyolipoma and @DISEASE$.	false
+fdac6b0cb77687cf3e34b11d5b181fde2a4a5b6b	@DISEASE$ (LAM) is a slow-progressing metastatic disease that is driven by mutations in the @PHENOTYPICFEATURE$ suppressor tuberous sclerosis complex 1/2 (TSC1/2).	false
+d2d38bca54e1bb0c70479e83595e7560c16de320	Linear unilateral basal cell @DISEASE$: a benign follicular @PHENOTYPICFEATURE$ simulating multiple basal cell carcinomas.	false
+f6bc56de05220721750a186e15ecb4a64407d824	@DISEASE$ lipomatosis superficialis is a rare, asymptomatic @PHENOTYPICFEATURE$ of skin.	false
+edc107b74ebae92b51905113b5514f3158c619f9	Renal function was compared with pretreatment values, after 8 days and one year: --RPF was increased (+18 p. 100 and +10.3 p. 100); --GFR was unchanged (+3,8 p. 100 and -8.8 p. 100); --filtration fraction was significantly decreased: (-12.3 p. 100 and -18.3 p. 100); --sodium excretion rate (+16 p. 100 and +9.9 p. 100) and kaliemia increased (+10 p. 100 and +8 p. 100) but severe @PHENOTYPICFEATURE$ @DISEASE$ occurred; --PRA increased (+270 p. 100 and +400 p. 100); --Plasma aldosterone was decreased after eight days --28.9 p. 100 but identical to control after one year -4.4 p. 100.	false
+0ec8bc8a27bdddb267643fbf05d87933dfd946d1	@PHENOTYPICFEATURE$ @DISEASE$ occurred in 166 of 200 patients (82%; before TxK, 3.9 ? 0.4; after TxK, 4.3 ? 0.5 mEq/L).	false
+151d9a58ed2aa47f1db789f45b82ac2a6e4e9c99	The patient with a @PHENOTYPICFEATURE$ @DISEASE$ became seizure-free.	false
+e9dc1aed403f256da203aa11b361d282e6d07984	[Basal-cell and linear unilateral adnexal @PHENOTYPICFEATURE$ (or linear unilateral basal-cell @DISEASE$)].	false
+2f8fb37b47b8351e9a82248cccaa1cfc85540a37	@DISEASE$ (KT) is a benign @PHENOTYPICFEATURE$-like lesion predominantly involving the submandibular gland of middle aged individuals.	false
+3f3f0af1f65e7c9d59380c362c623f78e0c392a3	[@DISEASE$ - K?ttner @PHENOTYPICFEATURE$].	false
+0837ce1e149d048baaf23676f585068810fc2eae	These are; ple21 in limbic encephalitis; PCD17, CDR62, CDR34, and CZF in paraneoplastic cerebellar degeneration; one of the anion transporters band 3 in chorea-acanthocytosis; visinin-like substance in cancer-associated retinopathy (@DISEASE$); myelin basic protein (MBP) and proteolipid protein (PLP) in acute disseminated encephalomyelitis; MBP, PLP and myelin-oligodendrocyte glycoprotein (MOG) in multiple sclerosis; glutamic acid decarboxylase in stiff-man syndrome; GM1 ganglioside in amyotrophic lateral sclerosis; peripheral nerve K+ channel in Isaacs syndrome; synaptotagmin in Lambert-Eaton syndrome; acetylcholine receptor in myasthenia gravis; GM1 ganglioside in Guillain-Barr? syndrome; GQ1b ganglioside in Fisher syndrome; myelin-associated glycoprotein in IgM paraproteinemic neuropathy; HuD in paraneoplastic @PHENOTYPICFEATURE$; and tRNA and HSP65 in polymyositis.	false
+36c756dda9d6672cbafbef59963bbdc2e44f66f2	These are; ple21 in limbic encephalitis; PCD17, CDR62, CDR34, and CZF in paraneoplastic cerebellar degeneration; one of the anion transporters band 3 in chorea-acanthocytosis; visinin-like substance in @DISEASE$ (CAR syndrome); myelin basic protein (MBP) and proteolipid protein (PLP) in acute disseminated encephalomyelitis; MBP, PLP and myelin-oligodendrocyte glycoprotein (MOG) in multiple sclerosis; glutamic acid decarboxylase in stiff-man syndrome; GM1 ganglioside in amyotrophic lateral sclerosis; peripheral nerve K+ channel in Isaacs syndrome; synaptotagmin in Lambert-Eaton syndrome; acetylcholine receptor in myasthenia gravis; GM1 ganglioside in Guillain-Barr? syndrome; GQ1b ganglioside in Fisher syndrome; myelin-associated glycoprotein in IgM paraproteinemic neuropathy; HuD in paraneoplastic @PHENOTYPICFEATURE$; and tRNA and HSP65 in polymyositis.	false
+ec207df72d05c00eb4c69e7ee3b9dbef5ad893cd	@DISEASE$ is a recently described autosomal dominant bone disorder characterised by @PHENOTYPICFEATURE$ and osteosclerosis confined to the skull, especially the calvarium and the skull base.	false
+345382fc4817d2fbf329ca1fa9ad085ab1ff63df	@DISEASE$ (HCI) is a rare autosomal dominant disorder characterized by intracranial @PHENOTYPICFEATURE$ and osteosclerosis, which is confined to the skull, especially the calvarium and the skull base.	false
+b26f7b2d455fd8efa732e9d10e83a14ab459ce98	@DISEASE$ (HCI) is a rare bone disorder characterized by progressive intracranial @PHENOTYPICFEATURE$ at the skull.	false
+e135ea90e0db13c16c8fa87a83cae893d838e054	An unusual aspect of @DISEASE$ is the high rate at which tumors regress spontaneously, even in infants with extensive liver involvement and numerous @PHENOTYPICFEATURE$.	false
+64e6d8386ec82cc6aa098c6835a168fc3f61137c	Moreover, the differential diagnosis becomes easier of neonatal adrenal hemorrhage and other diseases such as neonatal @DISEASE$, adrenal abscess, cystic neuroblastoma, cortical renal cyst, and obstructed upper cortical @PHENOTYPICFEATURE$, and obstructed upper excretory tract in duplicated kidney.	false
+37dddaf0681e5903e68d007e15676d03aac2a927	Moreover, the differential diagnosis becomes easier of neonatal adrenal hemorrhage and other diseases such as neonatal neuroblastoma, adrenal abscess, cystic @DISEASE$, cortical renal cyst, and obstructed upper cortical @PHENOTYPICFEATURE$, and obstructed upper excretory tract in duplicated kidney.	false
+b4403c06f207f35e697265f686bcdb26c89296f5	Moreover, the differential diagnosis becomes easier of neonatal adrenal hemorrhage and other diseases such as neonatal @DISEASE$, adrenal abscess, cystic neuroblastoma, cortical @PHENOTYPICFEATURE$, and obstructed upper cortical renal cyst, and obstructed upper excretory tract in duplicated kidney.	false
+bb796dd8d25b21febd8f42197d26cf15bd09676d	Moreover, the differential diagnosis becomes easier of neonatal adrenal hemorrhage and other diseases such as neonatal neuroblastoma, adrenal abscess, cystic @DISEASE$, cortical @PHENOTYPICFEATURE$, and obstructed upper cortical renal cyst, and obstructed upper excretory tract in duplicated kidney.	false
+38091b76ce5c5f9bcd8a84ef1b5fe8c29c4f1e07	Congenital heart disease, unilateral @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dba621e6c0c8b4ee1b76990bda53d02b08b1afa7	Following termination of pregnancy, fetal examination revealed post-axial @PHENOTYPICFEATURE$ and @DISEASE$-in-situ affecting both adrenals in addition to the cerebellar abnormalities.	false
+822ac4674f43315551088810cc312b730142aed2	The differential d. usually is against cystic-@DISEASE$, cortical @PHENOTYPICFEATURE$, adrenal abscess.	false
+a1e8708ff0c868d1c82d653e3dc5bd90adb97b30	To determine the frequency and types of @PHENOTYPICFEATURE$ among children treated at a young age for cancer, as represented by @DISEASE$.	false
+4edd2aea1c87fb14379c1f23fc1398d48714b499	@PHENOTYPICFEATURE$ in children treated for @DISEASE$.	false
+5332b6bcacd42bf7f5b1f6e42fb6affbdeee9694	In patients with @DISEASE$ and other neoplasms @PHENOTYPICFEATURE$ may be an easily accessible source of samples for histopathologic examination.	false
+50b1f414d99a4a68e9c329495a45db3166b47eb6	@PHENOTYPICFEATURE$ jaw defects and unexplainable loosening of permanent molars in children should give rise to detailed examination with regard to the possible existence of a metastasizing malignant tumor (especially @DISEASE$).	false
+436e1c745ffa5ce27f9ee3b5e97069258791c5ab	The neonatal diagnosis of a heterogeneous @PHENOTYPICFEATURE$ mass is sometimes difficult (polycystic renal dysplasia, cystic lymphangioma, cystic @DISEASE$, adrenal haematoma).	false
+2fe40c66b018683cf84a8c761f7bc7770bfa5521	Case 2 shows loss of sensation, mental retardation, and @PHENOTYPICFEATURE$, clinically similar to patients with @DISEASE$.	false
+70f35b09c377e9d98f04d4f833fe2e370916b5b9	Over time he developed characteristic, progressive vertical ophthalmoplegia, @PHENOTYPICFEATURE$, and cerebellar syndrome; at age 10 he was diagnosed as having @DISEASE$ based on filipin staining and genetic analysis (heterozygous I1061T/R934X NPC1 mutations).	false
+3f30aac8e58e0f02218c6b159ed2df9dbf75df02	@PHENOTYPICFEATURE$ represent a major clinical burden in patients affected by the lysosomal storage disorder @DISEASE$ (MPSII, OMIM #309900).	false
+86bc0b34e0abd969b0b8ec4b3cca77735fde30a7	Among the 300 children with @PHENOTYPICFEATURE$, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with @DISEASE$, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.	false
+e2d5b0dac5fc2e22ef41dc11d2410e830a2291fe	@DISEASE$ (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and @PHENOTYPICFEATURE$, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase).	false
+3d002eefb076ed4174303e96a7422b209b661544	@DISEASE$ (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to @PHENOTYPICFEATURE$ as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea.	false
+e5dd7c79622cda846309f3cf53a9ffe74eaa5f46	Compared with standard scales, SBRS Movement was appropriately associated with the Vineland Motor scale; SBRS Lack of Fear had significant associations with the Autism Diagnostic Observation Schedule (ADOS), indicating a symptom overlap between @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1017568cffd20dbce02e1b03e3e8de11bfddec0f	These observations suggest that when confronted to recurrent heart malformations with extra-cardiac defects that are not due either to an inherited chromosomal anomaly or to a well characterized mendelian disease, a maternal teratogen should be identified and more particularly @DISEASE$ if an intra-uterine @PHENOTYPICFEATURE$ or a microcephaly is part of the syndrome.	false
+30c7a1b03ac0f82d6108a5c9f8974ab826578c05	There is a strong link between alcohol use, folic acid deficiency, @PHENOTYPICFEATURE$, uncontrolled maternal diabetes mellitus, uncontrolled @DISEASE$, and monozygotic twins and an increased risk of congenital anomalies.	false
+0f0591e2b411999b098c2f380f37c4b71267b680	Fetus or infant born with unexplained @PHENOTYPICFEATURE$ and microcephaly requires search for @DISEASE$.	false
+cff947cdc6357974cab837df07e2ee2bc062138f	This review focuses on risk factors for birth defects including alcohol consumption, illicit drug use, smoking, @PHENOTYPICFEATURE$, pregestational diabetes, @DISEASE$, multiple gestation, advanced maternal age, advanced paternal age, family history/consanguinity, folic acid deficiency, medication exposure, and radiation exposure.	false
+01eae15fab6ee7f6ef20566e8e9fc6385371d0c6	Due to the location of the @PHENOTYPICFEATURE$, the patient underwent resection of the auditory responsive precentral area which resulted in the post-operative expression of a characteristic articulatory disturbance known as apraxia of speech (@DISEASE$).	false
+f79fcf92ba79bfd83fb02cd733e82d314bc676ca	Potential for @DISEASE$ @PHENOTYPICFEATURE$ protection was studied by thoracic irradiation of mice with Lewis lung carcinoma.	false
+ca1666ec50b467c9c3e7d454e0da7d94b083e57f	To describe @PHENOTYPICFEATURE$ in a family composed by a father and two affected sibs with Adams Oliver syndrome (@DISEASE$) (OMIM 100300).	false
+2ac7bc92f1f318ff4106c4af518255484c8d5163	Histological examination of the tissues did not provide any evidence of toxicity or @PHENOTYPICFEATURE$ induction that could be attributable to treatment with @DISEASE$.	false
+3670bb434b1cbb7d62e247bbaa9be18ec5ca98cd	In order to identify the @DISEASE$ genes that are suspected to support cancer progression and resistance, we analyzed the expression patterns of 285 genes annotated for being involved in oxidative stress in 994 @PHENOTYPICFEATURE$ and 353 normal tissues.	false
+15442bafd23342a951d7abf00a5873861d1bf26b	@DISEASE$ @PHENOTYPICFEATURE$ with necrosis are to be considered WHO grade IV tumors (GBM).	false
+f1d4675ce3f6ae3cb1ba2f79a7960ed18e4169f1	@DISEASE$ tumors with necrosis are to be considered WHO grade IV @PHENOTYPICFEATURE$ (GBM).	false
+89232f220c056c4859b52d596892b69015c23d45	Histological diagnosis of the tumors was as follows: teratoma (3 cases), medulloblastoma (3), glioblastoma (2), astrocytoma (2), ependymoma (2), craniopharyngioma (1), @DISEASE$ (1), @PHENOTYPICFEATURE$ (1), lipoma (1), melanotic progonoma (1), and an undetermined type, probably medulloblastoma (1).	false
+acd2c17dcbe684704c9f5ddd775ea74c5f41e23a	We observed a family in which two boys were diagnosed with @DISEASE$, elliptocytosis, and @PHENOTYPICFEATURE$ and carried a large deletion of the Xq22.3-q23	false
+a872e8c2a23368e8920d9afc6ed3ea051ecaaca7	De novo membranous nephropathy (MN) can develop in transplant recipients with viral hepatitis, @DISEASE$, @PHENOTYPICFEATURE$, renal infarction, or in conjunction with recurrent IgA nephritis.	false
+e6fbfa54bf0f07b587d3f4e9127bac0519512094	A family with @DISEASE$, sensorineural hearing loss, macrocephaly, and @PHENOTYPICFEATURE$ is reported.	false
+04dc87e9b7b44fac0245ad1570e289c82fce4dbd	AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in @DISEASE$, @PHENOTYPICFEATURE$, midface hypoplasia, and elliptocytosis (AMME complex).	false
+ba7cbce3231eda6d94a7ccd2b35c37923a069657	@DISEASE$, @PHENOTYPICFEATURE$, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?	false
+c39a8d53de9abe23e4f273c7c479c9da5a476120	FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with @DISEASE$, elliptocytosis, and @PHENOTYPICFEATURE$.	false
+9484744e403a7ce1998303ccde4dee93fbd5f780	@PHENOTYPICFEATURE$, midface hypoplasia, facial hypotonia, and @DISEASE$ are associated with a deletion in Xq22.3.	false
+4848d6ef44c1a5e4261d98a16ff7a2abb2b40610	[@DISEASE$ with @PHENOTYPICFEATURE$ and purine metabolism disorders].	false
+ca93f4f75eb9c518501d3e441106bc1ae276ab4d	@DISEASE$ and @PHENOTYPICFEATURE$: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).	false
+a1ec161a3364b4eb42b6474a3cd3a2712c467f1a	Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as @DISEASE$, @PHENOTYPICFEATURE$, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by Alport syndrome (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one mental retardation gene.	false
+b159d29d7204f8e4730eb13f50274e7349b682ce	Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by @DISEASE$ (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one @PHENOTYPICFEATURE$ gene.	false
+3be14cb8a1adae2e5f8c539be2f609e7547cc902	Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as @DISEASE$, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by Alport syndrome (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one @PHENOTYPICFEATURE$ gene.	false
+d8941c5c633f369f5a662b4aceb7f6b28c8559fc	Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by @DISEASE$ (ATS) and @PHENOTYPICFEATURE$ (MR), indicated Xq22.3 as a region containing one mental retardation gene.	false
+737d4622400f6d934b49f2b47da00e938a2c7773	Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as Alport syndrome, @PHENOTYPICFEATURE$, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by @DISEASE$ (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one mental retardation gene.	false
+474df862af720af2e2d7fa08e34cdaad24925750	Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as @DISEASE$, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by Alport syndrome (ATS) and @PHENOTYPICFEATURE$ (MR), indicated Xq22.3 as a region containing one mental retardation gene.	false
+662091d1c66019ac87536b2311427bea54db9589	A Chinese family with @DISEASE$ presenting with rapidly progressing diabetic retinopathy and @PHENOTYPICFEATURE$.	false
+ad50750c9a8b81fb0a6c0384b833b18c47a9c536	We conclude that renal function should be evaluated in patients with @DISEASE$ and the cause of @PHENOTYPICFEATURE$ in these patients may be rapid and severe diabetic nephropathy.	false
+8b3c095f85118026a3a96ed3eb95bc90b2c4b16e	Immunostaining of mouse @PHENOTYPICFEATURE$ showed that BARD1 epitopes PVC and @DISEASE$ were specifically upregulated in invasive, but not in confined lung tumors.	false
+4a545930af5af8406d0f683a6bdb7aa8248ec6ae	@DISEASE$ (WS) is an @PHENOTYPICFEATURE$ neurodegenerative disorder characterized by diabetes mellitus (DM), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+8a3ebbe78c696858c654c37cca34dccff8d4dbbc	Here, we report a consanguineous family with a new variety of OFDS associated with acromelic @PHENOTYPICFEATURE$ and genu valgum; the features overlapping with @DISEASE$.	false
+5986fbc745aa48843548c0e8a2cc030471a8474b	Patients with the @DISEASE$ have a @PHENOTYPICFEATURE$.	false
+412961c0c0260b10cb06d7b4d25a3964991d64c3	@DISEASE$ is an autosomal recessive disorder characterised by @PHENOTYPICFEATURE$ with short limbs, postaxial polydactyly and congenital cardiac defects.	false
+b9109ca3de41b73754b215276acf394920617df2	Current findings expand the @DISEASE$ and Weyers acrofacial dysostosis @PHENOTYPICFEATURE$ spectra, and provide further evidence that the last exon of EVC2 gene is a hot spot for Weyers acrofacial dysostosis mutations.	false
+11bd3acdab82fedd247559a28cdc03b6110c1dc4	The remaining 160 procedures were performed because of a @PHENOTYPICFEATURE$, which was secondary to achondroplasia (fifty-eight limbs), Turner syndrome (thirty-four), an idiopathic etiology (twenty-two), hypochondroplasia (twenty), achondroplasia (ten), @DISEASE$ (six), rickets (four), or adrenogenital syndrome, Laron syndrome, or pseudoachondroplasia (two limbs each).	false
+95c20146d1bd524cf52fafed0e2d37f10790f22e	Oral-facial-digital syndrome with acromelic @PHENOTYPICFEATURE$: a new variant--overlap with @DISEASE$.	false
+ae665d6b20bcca539ec54d746c15ead3e16d2ccf	@DISEASE$ (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by @PHENOTYPICFEATURE$, polydactyly, cardiac and renal anomalies.	false
+2c611eee793586a252d4d4d3a66cc9188dfb9a2c	@DISEASE$ is a rare autosomal recessive disorder characterized by short extremities, @PHENOTYPICFEATURE$, polydactyly, and nail hypoplasia.	false
+2710ece4b49f1c76cceae0fd2177fcde42cef9f5	@DISEASE$ characterized by spastic hemiplegia preceding @PHENOTYPICFEATURE$.	false
+859366122c992be841c80c5dbb3667b52ff80f3c	@DISEASE$: diagnosis, metabolic and @PHENOTYPICFEATURE$, cardiovascular disease and management.	false
+4c9f8f2c49c4c7024df5c25212ea071ffb6840bc	We identified a negative correlation between the frequency of PT and @DISEASE$ scores as well as the presence of muscle @PHENOTYPICFEATURE$.	false
+df56aa9977d4eb7401eeca1605e0339e86aa3442	To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, @PHENOTYPICFEATURE$, or typical skin lesions of @DISEASE$.	false
+a230401fc95429f90f3b25faf0df00e30d4cb47e	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (@DISEASE$) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+73ad2736fca42133c1c83231795cde31c460f63d	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (@DISEASE$, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+06d229e28e548d6bf4fa96650b666f62b06d34f4	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (@DISEASE$) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+92628eec09a6880b0041d7d5f9dbdc505c2d1b4a	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (@DISEASE$, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+a91ec3fd234a7204c0142f4b20a2538dd45b5347	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, @DISEASE$, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (MAS, 6.94; MPI, 6.80%).	false
+eb62205183413902072c6c27c313818c758f718b	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (@DISEASE$, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+52ba86d02f89bd361d92e7e02f4b5ba262ea34cb	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary @PHENOTYPICFEATURE$ (MAS, 5.90; MPI 3.89%) and solid tumours (@DISEASE$, 6.94; MPI, 6.80%).	false
+6eddd6cab75708c0e228b09afadc52ff006f2c84	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (@DISEASE$, 6.94; MPI, 6.80%).	false
+553d4f8e319dcc5248f55a17ef13006eccfd3709	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, MAS, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (@DISEASE$, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+cb41f179e2815fe78df741cc649d93ced20c46db	The results showed a stepwise progress in cell proliferation between histologically normal renal tubule epithelium [untreated animals, mean AgNOR score (MAS) 2.32, mean PCNA index (MPI) 0.53%; treated animals, @DISEASE$, 2.44; MPI 0.99%], dysplastic tubule epithelium (MAS, 4.15; MPI 1.65%), papillary tumours (MAS, 5.90; MPI 3.89%) and solid @PHENOTYPICFEATURE$ (MAS, 6.94; MPI, 6.80%).	false
+e66d6972db6fc908e4237b276b800939b2246003	Hyperestrogenemia suggests a @DISEASE$ or a granulosa @PHENOTYPICFEATURE$.	false
+c6fa6c44cf5152eac9f05115de256e58c4214bcb	Occurrence of GNAS mutations at a postzygotic stage lead to @DISEASE$ (MAS), a disease causing endocrine hyperfunction and @PHENOTYPICFEATURE$ in several organs, including the pituitary.	false
+2c4de9148371e83e34651d7384d78a243a176c1c	Occurrence of GNAS mutations at a postzygotic stage lead to McCune-Albright syndrome (@DISEASE$), a disease causing endocrine hyperfunction and @PHENOTYPICFEATURE$ in several organs, including the pituitary.	false
+974c4bc41bcdcc1fc6f3b731dd008ad864935209	Milk-alkali syndrome (@DISEASE$), characterized by @PHENOTYPICFEATURE$, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism.	false
+e3c2ea08eefc56ddf5ffebe15bd93a915052f3f4	Milk-alkali syndrome (@DISEASE$) consists of hypercalcemia, various degrees of @PHENOTYPICFEATURE$, and metabolic alkalosis due to ingestion of large amounts of calcium and absorbable alkali.	false
+253540f21dda5357fd280f59e0f74353a6c0a0dd	[@DISEASE$ with initial symtom of mandibular @PHENOTYPICFEATURE$: a case report].	false
+9cf83d1b04251c3cfec601f990918209ab5e7dac	@DISEASE$ is caused by increased calcium and alkali ingestion, causing hypercalcemia accompanied by metabolic alkalosis and @PHENOTYPICFEATURE$.	false
+2720193dc0bfff4c82a742577cbb4604d44a57c0	The milk-alkali syndrome (@DISEASE$) was a common cause of hypercalcemia, metabolic alkalosis, and @PHENOTYPICFEATURE$ in the early 20(th) century.	false
+a7b45c5689be5df5acbe0d88d0232358098e8641	MAP1B is implicated in fragile X mental retardation, @DISEASE$, and @PHENOTYPICFEATURE$ type 1.	false
+a3330bb9ec905390863c61af81bff36e70bd451d	@DISEASE$ (GAN) is a fatal neurodegenerative disorder with early onset characterized by a severe deterioration of the peripheral and central nervous system, involving both the motor and the sensory tracts and leading to @PHENOTYPICFEATURE$, speech defect and intellectual disabilities.	false
+7faf42f57a502129860ea2372ecd3ad2e0adfed2	@DISEASE$ (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, corticospinal tract dysfunction, @PHENOTYPICFEATURE$, and dementia.	false
+517af45b0929848e087d6fa62ee346eb51fdb67e	@DISEASE$ (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, @PHENOTYPICFEATURE$, ataxia, and dementia.	false
+82091bfc30b0fdd9f9efb1f76d5be24b04f1b61c	@PHENOTYPICFEATURE$ and arrhythmias in patients with Ondine's curse (@DISEASE$) syndrome.	false
+695e31aac6874299f7b0b33072bf2b7f16cd9260	The neural damage accompanying the hypoxia, reduced perfusion, and other consequences of sleep-disordered breathing, found in obstructive sleep apnea, @PHENOTYPICFEATURE$, and congenital central hypoventilation syndrome (@DISEASE$), appears in areas that serve multiple functions, including emotional drives to breathe, and involve systems that serve affective, cardiovascular, and breathing roles.	false
+f368ac7b6068cd26a254171ff6db23d97a36ca36	The neural damage accompanying the hypoxia, reduced perfusion, and other consequences of sleep-disordered breathing, found in obstructive sleep apnea, @PHENOTYPICFEATURE$, and @DISEASE$ (CCHS), appears in areas that serve multiple functions, including emotional drives to breathe, and involve systems that serve affective, cardiovascular, and breathing roles.	false
+2058897d7309b019194d59bb3ad3af9d0a0e9ed4	In this article, we review concomitant @PHENOTYPICFEATURE$ and the occurrence of bradyarrhythmias in patients with @DISEASE$.	false
+f4ea3c8014eccc4b14febc88316be07d7cd1959e	We hypothesized that children with @DISEASE$ (compared with age- and sex-matched healthy controls) would 1) exercise for shorter durations and reach lower peak speed and incline on the treadmill; 2) become more hypoxemic, more hypercarbic, and develop less @PHENOTYPICFEATURE$ during activity; and 3) take longer to return to baseline oxygenation, ventilation, and heart rate than normal children.	false
+c1754abf8e549315c02a2db3e73f6aac696e59bb	Hitherto, the disease causing gene has been identified for eight Mendelian syndromes with HSCR: congenital central hypoventilation (@DISEASE$), Mowat-Wilson (MWS), Bardet-Biedl (BBS), Shah-Waardenburg (WS4), cartilage-hair-hypoplasia (CHH), Smith-Lemli-Opitz (SLO), Goldberg-Sprintzsen (GSS), and @PHENOTYPICFEATURE$ due to congenital stenosis of the aqueduct of sylvius (HSAS).	false
+c8d13ac8f7ea3f0fbf5c582b9592662c58452e1c	We present 4 patients suffering Hirschsprung's disease associated with others neurocristopathies: 1 Waardenburg's syndrome, 1 @DISEASE$ or Ondine's curse, 1 ganglioneuroblastoma and 1 patient with bilateral sensory @PHENOTYPICFEATURE$.	false
+2f47b802ce5f25ecb635504763942f2105443a02	She carried a novel de novo missense variant, p.R102S (c.304C?>?A), in exon 2. Patient 2 has an atypical @DISEASE$ phenotype including @PHENOTYPICFEATURE$, gastroesophageal reflux, stridor, hypopnea, and intermittent desaturations.	false
+dc19503b205d178fe8eec7fd1e9dbedef70030ca	A scoping review of ever published original research reporting obesity rates (body mass index???30), among adult Indigenous peoples in Canada, was conducted to identify studies that help close the Canadian Community Health Survey (@DISEASE$) data gap for @PHENOTYPICFEATURE$ prevalence in Indigenous populations in Canada and to make comparisons based on ethnicity, sex, time, and geography.	false
+ac2dd12843ecad6480348ea9e25440c41dc49d8a	The patient had @PHENOTYPICFEATURE$-related gynecomastia, but he did not have any history of breast cancer, mastitis, hyperprolactinemia, or @DISEASE$.	false
+59d4a3b6ec77883bf49da3527d3590de02c471dd	The neuroendocrine dysfunctions of the patients were obesity (n = 7), isolated growth hormone deficiency (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), obesity and @DISEASE$ (n = 1), @PHENOTYPICFEATURE$ and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1).	false
+f1cf9a5cade8b00d701ee4b2ad316291c263bc9d	The neuroendocrine dysfunctions of the patients were @PHENOTYPICFEATURE$ (n = 7), isolated growth hormone deficiency (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), obesity and @DISEASE$ (n = 1), obesity and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1).	false
+c1fd24b014cef0f9b3c0e4c813b85da833777e14	The neuroendocrine dysfunctions of the patients were obesity (n = 7), isolated growth hormone deficiency (n = 6), central precocious puberty (n = 6), multiple pituitary hormone deficiency (n = 3), central diabetes insipidus (n = 1), growth hormone deficiency and central precocious puberty (n = 1), @PHENOTYPICFEATURE$ and @DISEASE$ (n = 1), obesity and hypogonadotropic hypogonadism (n = 1) and growth hormone neurosecretory dysfunction (n = 1).	false
+9dae03b553bcbcb8f4a64ed8dafe0a0610097a52	We report a girl with juvenile primary hypothyroidism revealed by @PHENOTYPICFEATURE$ and a syndrome of primary amenorrhea-@DISEASE$ with hyperprolactinemia and suprasellar pituitary enlargement.	false
+5eed7db9fa5dc6a9ed01725ad3038a79679a1423	The most frequent symptoms were menstrual disorders, headache, and @DISEASE$, and one-third of the patients had @PHENOTYPICFEATURE$ at diagnosis.	false
+ef75a1555f3b9d656fe9eaa668986e0d9f5b70c0	pregnancy, @PHENOTYPICFEATURE$, @DISEASE$-amenorrhea, hypothyrosis, ingestion of oral contraceptives.	false
+18a92c9655785b9de75b2a2edd48d4c803c1e0b9	@DISEASE$ is a rare cause of cholestatic jaundice and @PHENOTYPICFEATURE$ in the neonatal period.	false
+039a9b5ec740a32d44b483602d28da489f70c585	The child had mild osteopetrosis without neurosensory complications, unilateral @PHENOTYPICFEATURE$ of the left leg, and characteristic features of @DISEASE$ with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities.	false
+c8f7f6a8f58dea616b033a49ed67d643b27122f8	This method has already been shown to be effective in recessive dystrophic bullous epidermolysis, lethal Herlitz's junctional bullous epidermolysis, bullous ichthyosiform hereditary erythroderma, von Recklinghausen's neurofibromatosis, tyrosinase negative oculocutaneous @PHENOTYPICFEATURE$, Gorlin's syndrome, @DISEASE$ and Menkes disease.	false
+3c88cd76f9398e36f157ca528577f613cfc54cc1	@PHENOTYPICFEATURE$ occurred in 5.9% of infants with X-linked HED and in 17% of the other @DISEASE$ patients.	false
+8ed01562555bc96b308969d55dea99267bf06d3c	@PHENOTYPICFEATURE$ occurred in 5.9% of infants with X-linked @DISEASE$ and in 17% of the other HED patients.	false
+6721e1cfb2499b5389d5756a1541244006299a48	This group includes oculo-cutaneous @PHENOTYPICFEATURE$, Ch?diak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), @DISEASE$ of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica.	false
+5eea8f40f0739ce61a43d3675e36edf76718f5ef	The means of Epworth sleepiness scale score, BMI and @PHENOTYPICFEATURE$/Hypopnoea index (@DISEASE$) were respectively 16 + 4, 38.8 + 7 kg/m2 and 51.7 + 28.6.	false
+c278fa4730df3cf000997a1c276bf1655f31b48d	Autoimmune hepatitis (@DISEASE$) is an unresolved, predominantly periportal hepatitis that is usually displays @PHENOTYPICFEATURE$, and tissue autoantibodies, and this malady is responsive to immunosuppressive therapy.	false
+66d5b85b1f98a2722d7e803389896a2eedd2ae37	@PHENOTYPICFEATURE$ and reticulocytopenia in association with @DISEASE$ in two children.	false
+bb8d8e57027d5c8a9b3ad78d64753b2ee704d45d	The lower limits of the UA obstruction were determined and their relationship with sleep stage, position, age, body mass index and @PHENOTYPICFEATURE$ hypopnea index (@DISEASE$) were investigated.	false
+76ff32f6eaf76d1938283f53d0eac81c15a5503d	Another had @PHENOTYPICFEATURE$, and @DISEASE$ developed after cadaveric liver transplantation.	false
+e86af85d234521e74631f42f29ce507d9adea391	In complete @DISEASE$, sternocostoclavicular @PHENOTYPICFEATURE$ is associated with axial and/or peripheral (endosteal, periosteal, enthesopathic, metaplastic) hyperostosis and with psoriasiform or acneform dermatosis.	false
+ebd6d34a010940a944700dca8cc11def0138a325	In complete @DISEASE$, sternocostoclavicular hyperostosis is associated with axial and/or peripheral (endosteal, periosteal, enthesopathic, metaplastic) @PHENOTYPICFEATURE$ and with psoriasiform or acneform dermatosis.	false
+40015891ea46e871158db7cbb010eb4d6d8fef46	@DISEASE$ is characterized by female preponderance, @PHENOTYPICFEATURE$, extrahepatic syndromes and a good response to immunosuppressive treatment.	false
+e13a0ca66fa32a39d3eff56baf14bef82d28d53a	Idiopathic @DISEASE$ and idiopathic thrombocytopenic purpura associated with diffuse @PHENOTYPICFEATURE$, amyloidosis, hypoalbuminemia and plasmacytosis.	false
+d21824a8eed0bd7cd56b7834a547fa974ad6f789	Most patients with de novo @DISEASE$ had transplanted for HCV infection, @PHENOTYPICFEATURE$ and Cholestatic liver disease.	false
+b7e50563b5dba59105057b8adc3ef39aabadbb0d	Body mass index (BMI) and the apnea/hypopnea index (@DISEASE$) were determined for categorization of obesity and @PHENOTYPICFEATURE$ status.	false
+ea2cfe4fffa20cad020e7b82c2f03ef0c97b2ade	Systemic injection of an adenovirus vector into adult mice resulted in pathological improvements in multiple visceral organs of mice with @DISEASE$; however, no therapeutic efficacy was observed for mental retardation, skeletal deformities, corneal clouding, and @PHENOTYPICFEATURE$.	false
+f6a9b1d3ad6822554aecefa5ce223a07a0d36799	The external auditory canal obstruction, otitis media, and ossicle articular alterations in @DISEASE$ mice cause a @PHENOTYPICFEATURE$.	false
+91d116cf847bd27bd2b784ef68b41b678caadd39	We studied a murine model of @DISEASE$ with clinical features, including @PHENOTYPICFEATURE$ and biochemical, and pathologic features similar to those seen in human mucopolysaccharidoses.	false
+fb03d6cff06aa53a56498903ce808ef2c7bb6f6a	Omphalocele can be associated with single gene disorders, @PHENOTYPICFEATURE$, diaphragmatic defects, @DISEASE$, and syndromes of unknown etiology.	false
+bacc39eead59e66773c9cf584d50bca2dbae42c5	@DISEASE$ (FVS) is characterized by a number of abnormalities associated with VPA exposure in utero including @PHENOTYPICFEATURE$, congenital heart defects, limb defects, genitourinary defects, brain, eye and respiratory anomalies, and abdominal wall defects.	false
+2d9c20c87da77de9fa5c18e35f7fd8c11881e952	Both patients differed from the usual phenotype of non-Wilsonian low @DISEASE$ movement disorder as they had @PHENOTYPICFEATURE$ disorders with an onset in the first decade; one patient lacked significant intellectual impairment.	false
+4eafd80e773b79438a76522a7f236a2eda7f43b2	@DISEASE$ deficiency in humans is a rare cause of myeloneuropathy that usually presents with a spastic @PHENOTYPICFEATURE$, hyperreflexia, and distal sensory loss similar to that seen in patients with subacute combined degeneration.	false
+aa9d0b5c0b4a0d2e8a93873d88522d766fcd82ff	Here, we describe two patients with @PHENOTYPICFEATURE$ and sensory symptoms in which a diagnosis of @DISEASE$ deficiency myelopathy was made.	false
+ece99570fa416d383cecb70e53040e7347b786ec	A 22-year-old woman who had an IUD (@DISEASE$ T), inserted 7 years ago presented with complaint of lower @PHENOTYPICFEATURE$.	false
+61e4006e2b4d0530603ffef22b64eae749a012e7	Formation of etheno-DNA adducts in the liver was investigated in Long Evans cinnamon (LEC) rats, a Long Evans strain with hereditary abnormal @DISEASE$ metabolism, which develop spontaneous @PHENOTYPICFEATURE$ and later hepatocellular carcinoma.	false
+60346405110900a603c68048ffbd46edb15f1b2a	infection, hoof lesions, @DISEASE$ deficiency, contagious ecthyma, verminous @PHENOTYPICFEATURE$, hepatic lipidosis suggestive of negative energy balance, and bacterial bronchopneumonia due to Trueperella pyogenes and Bibersteinia trehalosi .	false
+48addbac7ffb3ded3f18938015a7eb4da30c5aba	Since the lesions resembled those of the @DISEASE$-@PHENOTYPICFEATURE$ syndrome in calves (Chuzan disease), the system described should prove useful in studies on pathogenesis.	false
+9b28fc8987c19a8f62e9067134049dabce7ba453	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ in water buffalo in southern Brazil.	false
+c23f2797096be6b3370c89de294423cdb2db6a5c	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ in calves.	false
+7e1bf84fe515f679657b4dd51591dc401b92e6c0	Postmortem examination revealed that this calf had @DISEASE$- @PHENOTYPICFEATURE$ (HCH) syndrome and that the remaining calves were normal.	false
+7cf9f39b7dd47e41de93a4fc14d4cf4fa06cdc02	A homozygous non-sense mutation in human CEP55 has been recently identified in perinatal lethal MARCH (multinucleated neurons, anhydramnios, renal dysplasia, @PHENOTYPICFEATURE$ and @DISEASE$) syndrome.	false
+e7ca4f4a9d5d0c7b5f4dc088dddcfe18a91c427f	@DISEASE$ and @PHENOTYPICFEATURE$ in two kittens attributed to intrauterine parvovirus infection.	false
+31fc3399f0f26ac64ee64f2d1b64c8669332ac3e	An outbreak of congenital @DISEASE$ and @PHENOTYPICFEATURE$ among calves in South Kyushu, Japan: a pathological study.	false
+07fa80e09a243f1fe8cc5aa93a4f2fa31e2b0f83	Serologic evidence for the etiologic role of Chuzan virus in an epizootic of congenital abnormalities with @DISEASE$-@PHENOTYPICFEATURE$ syndrome of calves in Japan.	false
+a4d1f25177c2fd05ae14b02d0d398d68844ca730	An outbreak of congenital @DISEASE$ and @PHENOTYPICFEATURE$ occurred between November 1985 and May 1986 in Miyazaki, South Kyushu, Japan.	false
+d0651909ebcc1ae7ff0e5220c2b21bfba8fc3633	@DISEASE$-@PHENOTYPICFEATURE$ in a newborn calf after infection of its dam with Chuzan virus.	false
+5a0f881df648ddbcd3bbbc582f6a229d51e0f40c	On the other hand, Casamassima syndrome is characterized by the presence of costovertebral defects, genito-urinary anomalies and @PHENOTYPICFEATURE$, which make it easily distinguishable from @DISEASE$.	false
+cb903ff8b5de2bbfa58c55d46d526846c5b5d8e8	@DISEASE$ is a rare genetic disorder characterized by multipl vertebral and @PHENOTYPICFEATURE$ anomalies at birth.	false
+4a7dcfe4495592b16158b1fdb997eba76158f8a3	Human phenotypes of interest include the association of SI/SA with short rib-@PHENOTYPICFEATURE$ syndromes and @DISEASE$, and with agnathia and holoprosencephaly.	false
+6a0368ccd8adc612e3c1d0f81369888d8b6c41a5	Thus, this article informs on key variants in transcription factor genes linked to cataract, aphakia, @PHENOTYPICFEATURE$, glaucoma, microcornea, microphthalmia, anterior segment mesenchymal dysgenesis, and @DISEASE$, and facilitates their access through Web-based databases.	false
+575aee3ed23597dc739f18a0ab270f234d2faa4b	Pancreatic @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	false
+1b75c852046e51a3685b4f794b1dfbac078b64f9	A 41-year-old woman with @DISEASE$ presented with numbness of her left arm followed by a @PHENOTYPICFEATURE$.	false
+16651f6148e89abebebc210ef9aa86468e20dea3	We report the first case of an association of pancreatic @PHENOTYPICFEATURE$ with @DISEASE$ mimicking disseminated bone metastases.	false
+02ce5227f1084e84d600cd2a1f4287e16100bf3b	@DISEASE$ (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild @PHENOTYPICFEATURE$, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (PEX) genes.	false
+5c5933ad0be35f6955ffb8c0c5d7c30522c79b78	A two-year-old girl with @DISEASE$ (CDA) acutely developed @PHENOTYPICFEATURE$, tachypnea, and increased oxygen requirement.	false
+82b53db3469cfab984adc4302b96d9108f77c93e	The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with @PHENOTYPICFEATURE$, @DISEASE$ (CDA), and often neutrophilic dermatosis.	false
+5974e2bacd906dcea180324e3d9694cf48071e28	@DISEASE$ is defined as structural and functional @PHENOTYPICFEATURE$ occurring in patients with cirrhosis, in the absence of any other associated cardiac disease.	false
+4bfea2fa7df07fb89bb2786319bbfa7e1f4580e7	Until now it has been implicated in the pathogenesis of fatty liver disease associated with @PHENOTYPICFEATURE$, alcohol abuse, and hepatitis C, in the progression of fibrosis to cirrhosis, and in the development of portal hypertension, hyperdynamic circulatory syndrome and its complications, and @DISEASE$.	false
+04746988fda54a6e6c63206b2bdad76698af6d55	This constellation of @PHENOTYPICFEATURE$ is termed @DISEASE$.	false
+3a1c2328a5208245eacefb4dd50b4e4fbe6ac5bc	The EC system is highly upregulated during chronic liver disease and consistent experimental and clinical findings indicate that it plays a role in the pathogenesis of liver fibrosis and fatty liver disease associated with @PHENOTYPICFEATURE$, alcohol abuse and hepatitis C. Furthermore, a considerable number of studies have shown that EC and their receptors contribute to the pathogenesis of the cardio-circulatory disturbances occurring in advanced cirrhosis, such as portal hypertension, hyperdynamic circulatory syndrome and @DISEASE$.	false
+04746988fda54a6e6c63206b2bdad76698af6d55	This constellation of @PHENOTYPICFEATURE$ is termed @DISEASE$.	false
+25c36f16050844fb37aef34e71ac391cc420bc34	The constellation of these @PHENOTYPICFEATURE$ is termed @DISEASE$.	false
+c4500e2b73275ce5ac3c1b2bddf163e66fa97c91	@DISEASE$ is a disease characterized by painful, subcutaneous fatty @PHENOTYPICFEATURE$.	false
+ede5a160a91dd27ff51810ca8de10313709fd06f	The diagnosis of Dercum's disease (@DISEASE$) was established by excisional biopsy of four @PHENOTYPICFEATURE$.	false
+72b4a84ef61dfe18109f4813ca0a4816cedd7636	Thus, whereas the level of ECoG activity (in terms of synchronization vs. desynchronization) was, in the majority of instances, equivalent in @DISEASE$ and NEO in some SWC phases (alert wakefulness, synchronized sleep and paradoxical sleep), the same was not true in the case of the relaxed wakefulness, @PHENOTYPICFEATURE$, intermediary and preparadoxical phases.	false
+18006a2677540a85d154a504f9e8c667567cb3a1	@DISEASE$ is a rare subtype of migraine with aura that includes, as it progresses, a motor defect together with visual or sensory symptoms or @PHENOTYPICFEATURE$.	false
+6e7c80d3cf81de58b6d23af45bf4cc286441803c	Despite recent advances in preventing sudden cardiac death (@DISEASE$) due to @PHENOTYPICFEATURE$, its incidence in the population at large has remained unacceptably high.	false
+7552dc3d15b7e0fad27355ea48f38ca1b921d5fe	However, the impact of PUFAs or mercury on the ventricular @PHENOTYPICFEATURE$, which often precede @DISEASE$, is not completely known.	false
+4d61b5c59ec95f9657eaa682af074ba4c3f5420e	Ventricular fibrillation (VF) is known to be the most dangerous @PHENOTYPICFEATURE$, frequently leading to sudden cardiac death (@DISEASE$).	false
+ed55042caf96cb601c2f8427b656aa8750882de5	Awareness of its appearance should be made by all physicians since patients with a family history of @PHENOTYPICFEATURE$ or sudden cardiac death (@DISEASE$) are at the high risk of developing SCD.	false
+d8b0d345d27d6bc34823a9ce0ab9c36e32ecd239	Awareness of its appearance should be made by all physicians since patients with a family history of @PHENOTYPICFEATURE$ or sudden cardiac death (SCD) are at the high risk of developing @DISEASE$.	false
+a1d566b6d5b4ba0dc31813f677bfac96152fd5df	This Review presents an overview of the molecular basis of @DISEASE$, with a focus on monogenic @PHENOTYPICFEATURE$ syndromes.	false
+20b73c4b7943916b34d64ad34fe5a869a544773d	Sickle cell disease (@DISEASE$) is characterised by abnormal @PHENOTYPICFEATURE$ and angiogenesis although their relationships in two common genotypes, homozygous (HbSS) SCD and sickle-haemoglobin C disease (HbSC), are unexplored.	false
+d0ea998cfe853b2bdf0223af85deeda2f1e99ca4	Studies of genetic testing in patients with primary @PHENOTYPICFEATURE$ disorders or cardiomyopathies and of victims of @DISEASE$ presumed to be due to primary arrhythmia disorders or cardiomyopathies, were systematically identified and reviewed.	false
+68ef4987630f0d867241f050b48cda2054dae175	Studies of genetic testing in patients with primary arrhythmia disorders or cardiomyopathies and of victims of @DISEASE$ presumed to be due to primary @PHENOTYPICFEATURE$ disorders or cardiomyopathies, were systematically identified and reviewed.	false
+cd2ce39eb5a5764a75292b0744141cc591f81438	We aimed to prospectively determine the prevalence of ERP and its association with @PHENOTYPICFEATURE$ and @DISEASE$ during one-year follow-up in an outpatient Egyptian cohort.	false
+b9e22518a81ab740014a3e2c04a81bd4639d77f6	Endurance training did not reverse the metabolic defects induced by a simulated vaso-occlusive crisis in @DISEASE$ mice, with regard to intramuscular acidosis, @PHENOTYPICFEATURE$ or anatomical properties.	false
+df65436f860bfe8b8e9bead86bb6f5cf7facf87d	In most of these inherited @PHENOTYPICFEATURE$ syndromes the phenotypical expression may range from asymptomatic phenotypes to sudden cardiac death (@DISEASE$).	false
+04f0a34c1fafd397c16c69db93a9bc830478170b	These clinicopathological features partly mimic @DISEASE$ (van der Knaap), except for the lack of familial history and @PHENOTYPICFEATURE$, and the more extensive neuropathological lesions.	false
+aaa75d7265c70bc1184ed7c3c0485f16492dba73	In the first experiment, two groups of 12 mice each were inoculated with @DISEASE$ @PHENOTYPICFEATURE$ cells and received either tap water or a 3% alpha-difluoromethylornithine solution as drinking water.	false
+71fce57299aab03d20f6adde007232c85fbbffd1	Some of these limitations include the fact that the background non-goblet epithelium in most patients with @DISEASE$ is biologically intestinalized and contains molecular abnormalities similar to goblet cell CLE, goblet cells fluctuate with time and decrease in number with progression of @PHENOTYPICFEATURE$, and pathologists have problems with interpretation, and distinction, of goblet cells from other types of cells in the esophagus.	false
+d456dbba654001082bea73f78db3c55d9effc32f	Although death in @DISEASE$ is usually predictable and often protracted, sudden and/or unexpected death may occur and involve status epilepticus, sudden unexpected epileptic death, choking, aspiration of gastric contents, and @PHENOTYPICFEATURE$.	false
+ed6016258481f7da62b7fdf056c3dc2ce2c9ab6f	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+ef8d03fa8901fb155f70d7dc063c02a6b5cd90c2	@DISEASE$ (LEMS) is characterized by @PHENOTYPICFEATURE$, amyotrophy, easy fatigability, and depressed tendon reflexes.	false
+2d3da21ea834dd03fffd07f913774f9cf70e8a3b	@DISEASE$ (LEMS) is an autoimmune disorder, in which antibodies against voltage-gated calcium channels located at nerve terminals cause @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+2773d1462d09bdc8c5813323886703a4f3893a18	Clinical Dutch-English @DISEASE$ (LEMS) @PHENOTYPICFEATURE$ association prediction score accurately predicts small-cell lung cancer in the LEMS.	false
+c83b78651043fa6a61f1efc7f5fa9bf916902ed2	Clinical Dutch-English Lambert-Eaton Myasthenic syndrome (@DISEASE$) @PHENOTYPICFEATURE$ association prediction score accurately predicts small-cell lung cancer in the LEMS.	false
+c9425207c9c8c3c036d499560874e6556fbe6f0e	A 66-year-old man with @DISEASE$, polyneuropathy, and small cell lung cancer, developed profound @PHENOTYPICFEATURE$ with a prolonged period of ventilatory dependency.	false
+d47401115dbe8b5255a1fa10591eb8abb777fac1	In @DISEASE$ (LEMS), antibodies against presynaptic voltage-gated calcium channels reduce the quantal release of acetylcholine, causing @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+45c430f2dbe9d6dfd02998039821e38e96ecc9c7	@DISEASE$ (LEMS) is a rare autoimmune neuromuscular disorder characterized by pathogenic autoantibodies directed against the presynaptic voltage-gated calcium channels (VGCC), resulting in a clinical syndrome of proximal @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+1814967a3f7fe1eda81144db4f7e23ecaabca08f	The clinical features of patients with @DISEASE$ are @PHENOTYPICFEATURE$ and autonomic dysfunction.	false
+1bdcc3ce4d41d26e4efdae36070f786bde4cd49f	Patients presenting with one of the more distinctive syndromes, such as subacute cerebellar degeneration, opsoclonus-@PHENOTYPICFEATURE$, and the @DISEASE$, should undergo a careful evaluation for the presence of an occult malignancy.	false
+b64054df1b446395cda76d9591273c99e5e0c3b5	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hyporeflexia, and autonomic dysfunction, which result from impaired release of acetylcholine from cholinergic nerve terminals.	false
+47a1d526e4071fc4a5ed6083fee6fda2b903b49a	@DISEASE$: @PHENOTYPICFEATURE$ versus nontumor forms.	false
+7945691e75b2eb0eb1ac4b1a75c55e38434b4e7e	This review discusses the management of diabetic ketoacidosis, hyperosmolar hyperglycaemic state, hypoglycaemia, hypercalcaemia, thyroid storm, myxoedema @PHENOTYPICFEATURE$, @DISEASE$, phaeochromocytoma hypertensive crisis and pituitary apoplexy in the adult population.	false
+494cc4024cee668bc651c11c237273c463df4664	He experienced @DISEASE$ at 29 years of age, followed by psychic disorders and @PHENOTYPICFEATURE$, then spastic paraparesia, dysarthria and peripheral neuropathy.	false
+d7e438de1d0bd99623236b57822c479a615a6d83	@DISEASE$, myxedema @PHENOTYPICFEATURE$, and thyroid storm.	false
+1eb77095860bea072d5e0ea1e9f4f95f0d4d1dad	While an 8-y-old boy presented with @DISEASE$ and @PHENOTYPICFEATURE$, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure.	false
+f42ee679e4f9843078063f8bae7033e600b4c0cb	Each of the endocrine emergencies discussed here--@DISEASE$, myxedema @PHENOTYPICFEATURE$, and thyroid storm--represents decompensation of a long-standing endocrine disorder and is precipitated in most cases by some stressful event.	false
+f9090647f39a30c0018cd7cdeb0222a313335801	On admission to the ICU in September 2001, the patient suffered from a ketoacidotic, hyperglycemic @PHENOTYPICFEATURE$ and @DISEASE$ due to an Enterobacter-cloacae sepsis, originating from multiple, necrotising deep cutaneous ulcers.	false
+530a762cd1ba675b2be1d49e3045fc39dba36a1c	In family A, @PHENOTYPICFEATURE$ (MR) was profound in the older brother with an episode of adrenal crisis, severe in the younger brother with no episode of @DISEASE$, and mild to moderate in the sister and the mother with no signs of adrenal hypoplasia.	false
+694ef237aa2d1bd86a1d9d23f5643eb26c741f67	In family A, @PHENOTYPICFEATURE$ (MR) was profound in the older brother with an episode of @DISEASE$, severe in the younger brother with no episode of adrenal crisis, and mild to moderate in the sister and the mother with no signs of adrenal hypoplasia.	false
+fa7767dcb939b6011f507e744a3125f0f1ff90da	A 30-year-old gentleman with panhypopituitarism developed @DISEASE$, hyponatremia, and hyponatremic @PHENOTYPICFEATURE$.	false
+75688c59fe766fcffe4ff5166aa31c03fa3427e0	In the present review only the most severe forms of life-threatening endocrine emergencies, including @DISEASE$, pituitary apoplexy, pheochromocytoma crisis, thyroid storm and myxedema @PHENOTYPICFEATURE$ will be discussed.	false
+4a58a37ebbe74be1adee8b4cfec9d78856817e2d	Pituitary apoplexy, diabetes insipidus, thyroid storm, myxedema @PHENOTYPICFEATURE$, parathyrotoxic crisis, hypocalcemia tetany, pheochromocytoma and @DISEASE$, diabetic ketoacidosis, diabetic hyperosmolar nonketotic coma, hypoglycemia and carcinoid crisis are the most important endocrine crises.	false
+01f49337cc002173cb7eac7b710ec178fc6ad42f	P-L-@DISEASE$ was constituted by hypotonia, @PHENOTYPICFEATURE$, hypomentia, obesity and other minor anomalies, however, CNS anomaly had not been reported.	false
+c0b03e1a7b8e6a0e2e5c927dd319a3309aadd33e	Three patients had chronic respiratory disorders: a 42-year-old man with @DISEASE$ was tired, had headaches, poor pulmonary function values and, according to the arterial blood gas values, hypercapnia; a man aged 24 with Duchenne's muscular dystrophy had variable moderate @PHENOTYPICFEATURE$ with hypoxia and hypercapnia, and a man aged 64 years with an mitochondrial myopathy complained of dyspnoea and headache but had good blood gas values.	false
+4a305ae422641ec5724272c9ff7c9e6be2f50581	A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, @PHENOTYPICFEATURE$, and short stature has been termed @DISEASE$ (MIM#275900) after the name of Old Order Amish families suffering from these symptoms.	false
+dadb03447b26de25c03e1da5a8b1cb713caa5b21	Brothers in a Wisconsin Old Order Amish family are reported with spastic diplegia, @PHENOTYPICFEATURE$, behavioral disorder and shortness of stature; the condition apparently is not progressive, and may be a "new" syndrome but could also represent a variant of the @DISEASE$.	false
+d22b6efeb8a926a31fae5d7c9c6a3295ff36adf9	Nine pathologically verified previous cases of @DISEASE$ caused by a @PHENOTYPICFEATURE$ are reviewed.	false
+31c932cc5d88dbaf415cecb93dc6a7e587695ffc	These @PHENOTYPICFEATURE$ were presumably metastases of the gastric @DISEASE$.	false
+bbee22cf53e11226e4c6f8e0f710acaafa7a1e39	All Ki-67 positive @DISEASE$ were intermediate or high-grade @PHENOTYPICFEATURE$.	false
+b85a0d6597adc650bbe78daf9699e32267a9a803	Generally, CL tumors were smaller in diameter than @DISEASE$ @PHENOTYPICFEATURE$ (P<0.05).	false
+f5df8b2e1b9936ffdc66f4cb73a37769f9ca9513	Generally, CL @PHENOTYPICFEATURE$ were smaller in diameter than @DISEASE$ tumors (P<0.05).	false
+ef9d44fa88d7527645d3a849f073e4820a50c989	Primary thyroid leiomyosarcoma (@DISEASE$) is an extremely rare @PHENOTYPICFEATURE$.	false
+60111737a73fc413a0a0807094cbd5c905c45a4f	Primary pulmonary leiomyosarcoma (@DISEASE$) is a very unusual @PHENOTYPICFEATURE$.	false
+44a482284ebd3a47e8c43868ea1d24a217b6627a	Pathology revealed the @PHENOTYPICFEATURE$ to be leiomyosarcoma (@DISEASE$).	false
+a20d7aa8000bf66b2c7032d834c3fbed0989555f	Lateral meningocele syndrome (@DISEASE$) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or @PHENOTYPICFEATURE$.	false
+1779104dc1ee33d59c78ba831155230485c73699	An unequivocal, malignant diagnosis was rendered by FNAC in 78 cases; 74 @PHENOTYPICFEATURE$ were diagnosed as sarcoma, of which 31 as LMS or suspicion of @DISEASE$.	false
+512b1f00691c13d937e5e15205812e697677129c	An unequivocal, malignant diagnosis was rendered by FNAC in 78 cases; 74 @PHENOTYPICFEATURE$ were diagnosed as sarcoma, of which 31 as @DISEASE$ or suspicion of LMS.	false
+598f10d05bbac1e8da277df6db1b530d08498988	Glial @PHENOTYPICFEATURE$ as a cause of @DISEASE$ are less frequent than metastasis.	false
+2390c6212b513d5c10d9e90f349bef5bee84f130	We report here on the first case of @DISEASE$ coinciding with @PHENOTYPICFEATURE$.	false
+cce67cb4262008df25a43be0ff08ad381186bc92	Femoral neck @DISEASE$ was related to age, weight, @PHENOTYPICFEATURE$ status, and specific disease activity scores.	false
+df79199338b5c07153c306f48d569bc0db06fd64	This is a rare familial case of @DISEASE$ manifesting @PHENOTYPICFEATURE$ with scarce muscular weakness.	false
+2f0994682fc28550b0a087b8cbb8c3684bdeb744	The level and severity of SCI and @PHENOTYPICFEATURE$ did not significantly affect @DISEASE$ values.	false
+8cecba094a31b616fe8319ca104249f1274ecba6	Lack of autonomous gait, @PHENOTYPICFEATURE$, long duration of antiepileptic treatment, topiramate adjunctive therapy, and less physical activity significantly correlated with abnormal @DISEASE$.	false
+f59a368c8ea3e698b771e0a53a3bfe063861ae45	A 33-year-old man with @DISEASE$ manifesting @PHENOTYPICFEATURE$ is reported.	false
+894f8f373d16c6cd85ff09bc8310483782e848cb	[Four siblings with becker muscular dystrophy (@DISEASE$) manifesting @PHENOTYPICFEATURE$].	false
+0003690d91cc89d1310fc8b4f3ee24b1b89f8914	[Four siblings with @DISEASE$ (BMD) manifesting @PHENOTYPICFEATURE$].	false
+d8d1b1299bb625552602560ba301b33dc017a63c	There are some indications that @DISEASE$ (BMD) might be related to mental disorders and @PHENOTYPICFEATURE$ (MR).	false
+5d02633064c94358bf5051ef5116812be241e66b	There are some indications that Becker muscular dystrophy (@DISEASE$) might be related to mental disorders and @PHENOTYPICFEATURE$ (MR).	false
+7e6a292cfd98701eae1d5402db78ec596131d5fe	Confirmation of Angelman syndrome in a boy previously reported as having @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f3df19e5401312e98991a14789d4b286365a493b	Patients who had lost total hip @DISEASE$ after 6 months showed a shorter survival than those who had not, but using Cox's regression, @PHENOTYPICFEATURE$, ascites, and nutritional parameters displaced BMD as prognostic factor.	false
+919b972a9d33960b0d7f94f550294aca72a55cc9	Patients who had lost total hip BMD after 6 months showed a shorter survival than those who had not, but using Cox's regression, @PHENOTYPICFEATURE$, ascites, and nutritional parameters displaced @DISEASE$ as prognostic factor.	false
+05f7a6b4718a3a117dbde8a2d07c83f961289d87	ST should be considered in the differential diagnosis of patients with vertebral @PHENOTYPICFEATURE$, especially in @DISEASE$-endemic regions.	false
+d2d18a3072cc32402e276156c1d3f52aaca8082b	It is important to recognize peripheral @DISEASE$ @PHENOTYPICFEATURE$ early because early treatment can effectively eliminate long-term morbidity.	false
+5b079e9bae9d1a73294f03345cb2efcd80a5f32e	@PHENOTYPICFEATURE$ and @DISEASE$ were excluded.	false
+b65623c3e49b2fe0fcebc81125da6a1f0929b9c1	Tuberculosis dactylitis, psoas abscess, and lumbar vertebral @DISEASE$ @PHENOTYPICFEATURE$.	false
+1dcdf692373f13c3eca718a13ff60364cd060a8a	@DISEASE$ dactylitis, psoas abscess, and lumbar vertebral tuberculosis @PHENOTYPICFEATURE$.	false
+aeeccb58739c19f099e82073e01e8ba38e4e72c2	HIV/TB co-infection: literature review and report of multiple @DISEASE$ @PHENOTYPICFEATURE$.	false
+6144dbbbc70f7a34c67c143af7b6617a9d15a65f	@DISEASE$-associated @PHENOTYPICFEATURE$ (TB-AOI) is a manifestation that can occur with pulmonary or extrapulmonary TB.	false
+6fce12cef6be57c48f3c7be03d0675672a54266c	@DISEASE$ @PHENOTYPICFEATURE$ with endobronchial tuberculosis.	false
+5802f50c7e598fea917784c7750395a725de2b6b	Cerebrovascular diseases, ischemic heart diseases, perinatal deaths, influenza/@PHENOTYPICFEATURE$/asthma and @DISEASE$ were the leading causes of AM in the past eight years in Mongolia.	false
+54690597d7d2e70093d6ba77aabf42e16877cb6b	Cerebrovascular diseases, ischemic heart diseases, perinatal deaths, influenza/pneumonia/@PHENOTYPICFEATURE$ and @DISEASE$ were the leading causes of AM in the past eight years in Mongolia.	false
+a338f0119c2bec2699b7e6ecbe036973317fd6c3	[Right tracheal bronchus associated with @DISEASE$ @PHENOTYPICFEATURE$.	false
+db3c89fbdff3e79f2febc7cc8b2194645f201458	@PHENOTYPICFEATURE$ and @DISEASE$ Among Industrial Workers and Their Dependents.	false
+b2ac88875ef39dc1753a8a2f4b8ef000e071acf4	Mutations of N-acylsphingosine amidohydrolase 1 are known to separately cause Farber disease (arthritis, @PHENOTYPICFEATURE$, and dysphonia) or SMA with @DISEASE$.	false
+e20de85753362ebd21f0a85da1c0bf46f8cc4282	Unverricht-Lundborg disease (ULD) is the purest and least severe type of progressive myoclonus epilepsy (@DISEASE$), and is not associated with progressive @PHENOTYPICFEATURE$.	false
+35412771d35bc7c9c47ffe417cb433d949e06855	Unverricht-Lundborg disease (ULD) is the purest and least severe type of @DISEASE$ (PME), and is not associated with progressive @PHENOTYPICFEATURE$.	false
+8aee8cedca34f0232079f643a109bb517561e379	Lafora's disease is a @DISEASE$ and must be evocated if myoclonus, occipital seizures and progressive @PHENOTYPICFEATURE$ are present.	false
+48d08d9469f8486c318953986c9ffa7080b5ecba	This report describes a patient with degenerative type of @DISEASE$ (PME), who showed slowly progressive deterioration of the central nervous system; @PHENOTYPICFEATURE$, dysarthria, and involuntary movements, particularly action myoclonus and dystonia.	false
+c4773a24a8f4a7b64ba98ee10d354bec436068ca	@DISEASE$ is a rare and opportunistic infection usually associated with hematologic diseases, diabetes mellitus, renal failure, solid @PHENOTYPICFEATURE$, and organ transplantation.	false
+f4d3c1c9373afe5bd78880a9bb0a6aa8a64df336	@DISEASE$ of the anterior chest wall presenting as a soft tissue @PHENOTYPICFEATURE$.	false
+6d33bc8f3b4b5e0dadf0f530b123c384c7df36b7	Pituitary apoplexy due to @DISEASE$ infection in a patient with an ACTH producing pulmonary @PHENOTYPICFEATURE$.	false
+69c006b1803f59ae97bcfe508826ef576b8a77dc	A naturally occurring, autosomal recessive @PHENOTYPICFEATURE$, known as wobbler, and mice transgenic for @DISEASE$ (FALS) superoxide dismutase (SOD)1 mutations are available, but the molecular mechanisms remain equally unknown.	false
+74ce80a4f242d5c885f37fae9c9626aef9e16651	A consistent feature in these three families was the presence of early @PHENOTYPICFEATURE$ of the spine, scoliosis, and reduced vital capacity, as found in @DISEASE$ (RSS).	false
+461aa4e6f3f246704d232d368b10f66557111860	@DISEASE$ is a neuromuscular disorder characterised by early @PHENOTYPICFEATURE$ of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure.	false
+2d795d5e83019c1020c3e22b1f04ada2fb616020	Selective acceptance of @DISEASE$ @PHENOTYPICFEATURE$ grafts in the brain.	false
+9921bbba60bc7d59b4adfb3b4af864b33b265107	Our data suggest that chemotherapy of @DISEASE$ @PHENOTYPICFEATURE$ with 5AC combined with immunotherapy is an attractive setting in the treatment of MHC class I-deficient tumours.	false
+75a80400b2fcf8179f5da1df94fd8527a408810e	Our data suggest that chemotherapy of @DISEASE$ tumours with 5AC combined with immunotherapy is an attractive setting in the treatment of MHC class I-deficient @PHENOTYPICFEATURE$.	false
+7ff567bb6633e9ff9dbae1225cf4444c3716b6f4	Our data suggest that chemotherapy of MHC class I-deficient @PHENOTYPICFEATURE$ with 5AC combined with immunotherapy is an attractive setting in the treatment of @DISEASE$ tumours.	false
+d283db634bfcf9728b00f792ce9f2e2e856a9077	Our data suggest that chemotherapy of MHC class I-deficient tumours with 5AC combined with immunotherapy is an attractive setting in the treatment of @DISEASE$ @PHENOTYPICFEATURE$.	false
+0fe64840a7c12720bcb837dec94f417c90481b54	Prospects for immunotherapy of @DISEASE$ @PHENOTYPICFEATURE$.	false
+d0a02ee8dfd5e903d8e38cb59e3a37ae113db378	The aims of this study were to demonstrate whether immune responses capable of coping with MHC class I-positive tumours can also be effective against their MHC class I-deficient derivatives and whether it is possible to induce immunity against MHC class I-deficient tumours by cellular vaccines based on @DISEASE$ @PHENOTYPICFEATURE$ cell lines.	false
+a4f4e49c64746346d19bcd00c19b2b8fb24b720e	The aims of this study were to demonstrate whether immune responses capable of coping with MHC class I-positive tumours can also be effective against their MHC class I-deficient derivatives and whether it is possible to induce immunity against MHC class I-deficient @PHENOTYPICFEATURE$ by cellular vaccines based on @DISEASE$ tumour cell lines.	false
+366efcca6bd5cc3e7c1dffc7e281fcfb9431712c	The aims of this study were to demonstrate whether immune responses capable of coping with MHC class I-positive @PHENOTYPICFEATURE$ can also be effective against their MHC class I-deficient derivatives and whether it is possible to induce immunity against @DISEASE$ tumours by cellular vaccines based on MHC class I-deficient tumour cell lines.	false
+a76ba723c6bf3743517988f7772a486dee47f9cc	The aims of this study were to demonstrate whether immune responses capable of coping with MHC class I-positive @PHENOTYPICFEATURE$ can also be effective against their MHC class I-deficient derivatives and whether it is possible to induce immunity against MHC class I-deficient tumours by cellular vaccines based on @DISEASE$ tumour cell lines.	false
+9ddc9e118c637ab882c43145ae5097b1321ce223	The aims of this study were to demonstrate whether immune responses capable of coping with MHC class I-positive tumours can also be effective against their MHC class I-deficient derivatives and whether it is possible to induce immunity against @DISEASE$ @PHENOTYPICFEATURE$ by cellular vaccines based on MHC class I-deficient tumour cell lines.	false
+b54aff633e46c0747b62e2864ac86986444364d9	The aims of this study were to demonstrate whether immune responses capable of coping with MHC class I-positive tumours can also be effective against their MHC class I-deficient derivatives and whether it is possible to induce immunity against @DISEASE$ tumours by cellular vaccines based on MHC class I-deficient @PHENOTYPICFEATURE$ cell lines.	false
+0dcf2f3063ac7700bc30d8c2e847f6ae972c2ee3	Immunotherapy of @DISEASE$ @PHENOTYPICFEATURE$.	false
+8c80a1fa75fe70d9b547f84cd6b25a150d446cf3	We evaluated the therapeutic effects of the DNMTi 5-azacytidine (5AC) against experimental @DISEASE$ and -positive @PHENOTYPICFEATURE$.	false
+de868302ba3fbb1ebe3f87acdd3e14cc4c281715	These results demonstrate that @DISEASE$ @PHENOTYPICFEATURE$ cells can escape from the immune response by functionally inactivating NK cells, and suggest cytokine-based immunotherapy as a potential strategy for MHC class I-deficient tumors.	false
+9db3bafd71bf33b89ed2ffa5bfbd33d0097f3e8f	These results demonstrate that MHC class I-deficient tumor cells can escape from the immune response by functionally inactivating NK cells, and suggest cytokine-based immunotherapy as a potential strategy for @DISEASE$ @PHENOTYPICFEATURE$.	false
+e0ea6e33f58b5804c7fa5c47c2f9edfead770313	These results demonstrate that MHC class I-deficient @PHENOTYPICFEATURE$ cells can escape from the immune response by functionally inactivating NK cells, and suggest cytokine-based immunotherapy as a potential strategy for @DISEASE$ tumors.	false
+c515dde80f3da3c03e300a48dc1a7d3a8be69b5c	These results demonstrate that @DISEASE$ tumor cells can escape from the immune response by functionally inactivating NK cells, and suggest cytokine-based immunotherapy as a potential strategy for MHC class I-deficient @PHENOTYPICFEATURE$.	false
+32000e528566fb7ab775262765591356a23d4c77	CpG oligodeoxynucleotides are effective in therapy of minimal residual tumour disease after chemotherapy or surgery in a murine model of @DISEASE$, HPV16-associated @PHENOTYPICFEATURE$.	false
+807b048efc1ddb5a67f234b775d6a971739220c3	CpG oligodeoxynucleotides are effective in therapy of minimal residual @PHENOTYPICFEATURE$ disease after chemotherapy or surgery in a murine model of @DISEASE$, HPV16-associated tumours.	false
+497d35452acf76dfc0137950b15b48876482b35b	Afferent and efferent cellular interactions in natural resistance directed against @DISEASE$ @PHENOTYPICFEATURE$ grafts.	false
+301e8b7bce0970a880a2c18a7cf879e4c01798b3	Rejection of allogeneic and syngeneic but not @DISEASE$ @PHENOTYPICFEATURE$ grafts by MHC class I-deficient mice.	false
+5936995c1966dcf83d2aebe8a9272678bc406c3e	[The primary pulmonary @DISEASE$: a rare @PHENOTYPICFEATURE$].	false
+3e28cf202bdfe47366e889f6d2c0da261c2368c8	The same is the case for the @PHENOTYPICFEATURE$ control probability (TCP), only more so; (b) for permanent implants BED may be a poor substitute for @DISEASE$; (c) for a fractionated treatment schedule, interpreting the observed probability of cure in terms of a TCP formalism that refers to the end of the treatment (rather than T(eff)) may result in a miscalculation (underestimation) of the initial number of clonogens.	false
+62ecd1f9dd26419ec82c7b93a7f76a1d73a00f9b	In addition to @DISEASE$, the presence of @PHENOTYPICFEATURE$ and a probable autosomal recessive inheritance make the disease a distinct entity, which we have called Norman's disease.	false
+d855cb8387ec97924a3844bd77a2613d9ad8c5e3	We performed exome sequencing of an infant with primary microcephaly, @DISEASE$, and intractable @PHENOTYPICFEATURE$ and his healthy, unrelated parents.	false
+1a87769faead79b955e8a6a07110b187df365352	Amongst 78 patients with either unilateral or bilateral (ponto-) @PHENOTYPICFEATURE$ or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine @DISEASE$, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy.	false
+92f38fc627a0c9b003f67c7c2febddcb6ea11fc6	Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+4e3c5766d0ed322163490b85401caab2a6d9128f	Complete @PHENOTYPICFEATURE$, @DISEASE$, and axonal neuropathy due to AMPD2 loss.	false
+231b18c3324679fd6ac409b591763742cd2d8b21	@DISEASE$ (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy, microcephaly, severe mental and motor impairments and @PHENOTYPICFEATURE$.	false
+78e6799a94acf6b84028e6c16fd754ca4a774009	Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase gene (RARS2) have been recently associated with @DISEASE$ type 6, which is characterized by early-onset @PHENOTYPICFEATURE$ with signs of oxidative phosphorylation defect.	false
+3cf75e4f003e4773141ceb76d19d30b47266bfd8	Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset @PHENOTYPICFEATURE$ with signs of oxidative phosphorylation defects classified as @DISEASE$ 6.	false
+cebce08749db2fe159f4dd567a8c58880d845d31	Mutations in the RNA exosome component gene EXOSC3 cause @DISEASE$ and spinal @PHENOTYPICFEATURE$.	false
+0d58961c7d0379fdbfe451ec26be7d69bf6e53b6	We hypothesized that constrained spherical deconvolution-based probabilistic tractography could successfully reconstruct cerebellar tracts in children with @PHENOTYPICFEATURE$ and that diffusion scalars of the reconstructed tracts could differentiate @DISEASE$, nonprogressive cerebellar hypoplasia, and progressive cerebellar atrophy.	false
+ad010015207b686aae879e08c8ea6e2b8807effb	@PHENOTYPICFEATURE$ and glomerular hyperfiltration are commonly observed in patients with @DISEASE$ (DM2).	false
+752e022e66bd23eae71f0c7131491a0836e53c2d	New endoscopic procedures for @DISEASE$ and @PHENOTYPICFEATURE$ treatment.	false
+8790dc47f70be0ce1fef72c2bf179344dbdb8d01	[The frequency of @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+a820bd2af877ebaaeff6f84fe95d8d809e3202d9	[Aerobic and strength training in patients with @DISEASE$ and @PHENOTYPICFEATURE$].	false
+639d0a747cdc088759627289ba9ea40c24210888	The patient's medical history included @DISEASE$, @PHENOTYPICFEATURE$, and hypertension.	false
+8b27c0d6ca7eeb9496e9cf4178c6e366ee4c6621	Keywords: noise; cancer; stroke; @DISEASE$; @PHENOTYPICFEATURE$	false
+5a62c91fa2e632da3680553e24d6f00d8b77afee	Metformin is licensed for treatment of @DISEASE$. This report describes a patient on metformin who developed diarrhoea and symptomatic @PHENOTYPICFEATURE$.	false
+c5ec0782343f0e5c2979ca071f2106ca4db91dd2	@PHENOTYPICFEATURE$ affects insulin resistance and is a risk factor for @DISEASE$ (DM2) and gestational diabetes mellitus (GDM).	false
+7398b08078bd7f4cdf93ca19ba6d8be3a6e6d910	These include osteoporosis, hypertension, cardiovascular disease, stroke, @DISEASE$, @PHENOTYPICFEATURE$, and obesity.	false
+e1ac8d5d2c8acf13c718526012275945c31f0084	These include osteoporosis, hypertension, cardiovascular disease, stroke, @DISEASE$, congestive heart failure, and @PHENOTYPICFEATURE$.	false
+c51fff3095b4c4b78fc63202ae52ab4ffc110cf2	The resolution rates for all patients were 74%, 61%, 79%, and 90% for hypertension, hypercholesterolemia, @DISEASE$ and @PHENOTYPICFEATURE$, respectively.	false
+e5d374ba242902be6bd628f2678c26d4d492f021	To evaluate the effectiveness of @PHENOTYPICFEATURE$ necrosis factor (TNF) blockers in @DISEASE$ (JPsA).	false
+3f495e5bfed309ae5bdbb74bd1b529e26cce0e04	A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO s?ndrome (progressive encephalopathy with oedema, hipsarrhythmia and @PHENOTYPICFEATURE$), @DISEASE$, congenital disorder of glycosylation type Ia, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia.	false
+87526d6d77067b605feef8c2edfa77b954298b96	In @DISEASE$ (JBTS), NPHP may be associated with @PHENOTYPICFEATURE$, retinal degeneration and mental retardation.	false
+a36ad099439aaa9673fe6aeb67516613f06e12a9	The @DISEASE$ is characterized by hypotonia, ataxia, @PHENOTYPICFEATURE$, abnormal eye movement, irregular breathing pattern and cognitive impairment.	false
+5b85cfda928d7a46dd746dc7fe95463c6ebcd065	Cervical lymphadenopathy in adults has a broad differential diagnosis, including bacterial and viral infections, @DISEASE$, systemic lupus erythematosus, and various @PHENOTYPICFEATURE$.	false
+e4d1a0eac6fa25562cf550b5e75de2cac685465a	@DISEASE$ may mimic a variety of serious conditions in early infancy, such as trauma, vitamin deficiencies, infection, or @PHENOTYPICFEATURE$, In a patient in good general condition there are typical roentgenological features often with involvement of the mandible that are diagnostic of the condition.	false
+badddf5bfc2d22fa64c3e5a41dfb5f53902e34d3	Fourteen years after the birth of the present case, his mother presented with @PHENOTYPICFEATURE$ from multiple myeloma raising the possibility that a maternal antibody may play a role in the etiology of severe prenatal @DISEASE$.	false
+6294c29a401d216dbe0918493eaf4e25470f485a	@DISEASE$ (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+c33b8c4a88cdeba0b98404991cb5198bd2de28cd	Scalp defect, absence of nipples, @PHENOTYPICFEATURE$, renal hypoplasia: another case of @DISEASE$.	false
+ba723537bb84bcbbdd04f252e98fe157737fa2fe	Frequency of @DISEASE$, 2, 3, 6, and 7 in Australian patients with spinocerebellar @PHENOTYPICFEATURE$.	false
+80ed2d37fcb7f483136e2a9f624c6394b17b4927	@DISEASE$ and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic @PHENOTYPICFEATURE$.	false
+d5c40999ef71a9c0662264a859db8f5ef036b229	@DISEASE$ and Machado-Joseph disease: incidence of CAG expansions among adult-onset @PHENOTYPICFEATURE$ patients from 311 families with dominant, recessive, or sporadic ataxia.	false
+a9d2dae6e489c692dfdba1f3113a0cb42dab2b42	Brain levels of thiamine and its phosphate esters in Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8ac5b19e37b21f0405674ed708edbfe79e995823	@DISEASE$ accounted for 7% of the studied Chinese families with @PHENOTYPICFEATURE$.	false
+73a865fa41b64ea36edb7139731b535691a179a4	Analysis of @DISEASE$, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar @PHENOTYPICFEATURE$ patients in the UK.	false
+b758a57e732089a27aed9047ca1d9de25ef2d02e	Analysis of @DISEASE$, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's @PHENOTYPICFEATURE$ genes in spinocerebellar ataxia patients in the UK.	false
+f857ba322eb6028e9ef8992cfd4961047e96194e	@DISEASE$, 2, 3 and 6: the clinical spectrum of @PHENOTYPICFEATURE$ and morphometric brainstem and cerebellar findings.	false
+c8075e62ddc99197cf853eb92da9c056ba86a1df	Knowledge of genetics and attitudes toward genetic testing in two hereditary @PHENOTYPICFEATURE$ (@DISEASE$) kindreds.	false
+03d711108b65afd541244c0dc15f8e546af667ac	Immunoreactive levels of alpha-ketoglutarate dehydrogenase subunits in Friedreich's @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cc30e8d33216d62b48063a6e9ee6dae4c077cc6b	Cerebellar allografts survive and transiently alleviate @PHENOTYPICFEATURE$ in a transgenic model of @DISEASE$.	false
+e46fc6c6b41da73c9e5291bae9090e445f5c38bb	Frequency of @DISEASE$,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar @PHENOTYPICFEATURE$.	false
+0b07751b85c4dbaf32ebb9e9e05536561b3f9b83	Elevated levels of homocysteine, a sulfur-containing amino acid, are correlated with increased risk for cardiovascular diseases and @DISEASE$ and with @PHENOTYPICFEATURE$.	false
+9ec2679e7f7c7c90a7df733e8a956eb7db52be97	A modestly elevated total plasma homocysteine concentration (tHcy) is generally accepted as an independent and graded risk factor for various pathologies, including vascular diseases, @PHENOTYPICFEATURE$, @DISEASE$, and pregnancy complications.	false
+a3c2652853ed9a20fce6270f31c764357154e9c0	Adenosine deaminase deficiency (@DISEASE$) is a rare, inherited disorder of purine metabolism characterized by immunodeficiency, @PHENOTYPICFEATURE$ and metabolic abnormalities.	false
+095eeecf8f05bef401d87e43769e8a8a573a0803	Homocysteine (Hcy), an immediate precursor of methionine (Met), is considered a risk factor for cardiovascular disease, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+365f20a5e1f1b9e6e7437ea067ce1939c12a95c7	Long-term outcomes include developmental and behavioral disability, chronic muscle weakness, @PHENOTYPICFEATURE$, cerebral palsy, and attention deficit disorder (@DISEASE$).	false
+96ab1ea89c9714a90b0686d823c6be1ddc7c6bc6	At elevated levels, homocysteine (Hcy, 1) is a risk factor for cardiovascular diseases, @DISEASE$, @PHENOTYPICFEATURE$, and osteoporosis.	false
+de7934af569d8d16fd44cff2e541f9121e061dff	In addition, accumulated evidence has indicated a multifaceted association between TGF-? signaling and aging-associated disorders, including @DISEASE$, @PHENOTYPICFEATURE$, and obesity.	false
+a59bf928c79a2d24182ac1e849990b67713f74c7	Elevated plasma levels of homocysteine are a risk factor for cardiovascular diseases, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+3e4019d4986c7377c08ecc63a685d44f6a8296e3	Abnormal plasma levels of that neurotoxic nonproteinogenic amino acid is implicated in many pathological conditions including cardiovascular diseases, @PHENOTYPICFEATURE$, and is now recognized as a risk factor in @DISEASE$ (AD) dementia.	false
+04005529492a337fc715da00335adbac772320a9	lethargy, hemorrhage, @PHENOTYPICFEATURE$), are easily obtainable with insufficient dietary intake, and may contribute to the oxidative stress environment of both @DISEASE$ and epilepsy.	false
+635cbc0e58862128d1687b83f57ca381a5af2296	These compounds also suppressed @PHENOTYPICFEATURE$ progression in a mouse model of @DISEASE$.	false
+f7718df9764d4c6f183b8275f978523e03fd1f07	Inhibition of induced murine @DISEASE$ cell differentiation by @PHENOTYPICFEATURE$ promoters: relation to the cell cycle.	false
+8ad16a532aa83f3aa8c435a4d50b08808fbf1300	PU.1 functions as oncogene in Friend virus-induced @DISEASE$ and as @PHENOTYPICFEATURE$ suppressor in acute myeloid leukemias.	false
+58a312a260e4136f5a8ec64897265984aa67dfce	Loss of p53 @PHENOTYPICFEATURE$ suppressor function is required for in vivo progression of Friend @DISEASE$.	false
+4f48c9565c63c2812f7d357b718bd7391b5d887d	Studies of cloned Friend @DISEASE$ @PHENOTYPICFEATURE$ cells.	false
+03872ec7fd91ee3e646b72fc5d7528d02e52ae37	Five deaths were from @PHENOTYPICFEATURE$ (acute @DISEASE$, brain tumor, cancer of lung, paranasal cavity, esophagus).	false
+f23ec3bbb389c963c47ae4b80cded9f2c10d529e	@DISEASE$ cells in different differentiating stages were observed in @PHENOTYPICFEATURE$ tissues.	false
+300c010bfaa3e02ce99af2fdbc57431e612c7c55	Induction of @DISEASE$ cell adhesion by plant diterpene @PHENOTYPICFEATURE$ promoters: a quantitative study and correlation with in vivo activities.	false
+b9e880c57afb4c4e6d27542b5b1eae051d68db7e	A subset of mice developed @DISEASE$, a @PHENOTYPICFEATURE$ that does not spontaneously occur in mice.	false
+83b6a1165ba3abdb1bee3b268e1c1df462619187	In a nude mouse model of @DISEASE$, administration of F12CH reduced @PHENOTYPICFEATURE$ growth.	false
+e73cbf7f82a3e17c414eb3d3da63c31e0bdadd25	@DISEASE$ represents a spectrum of clinical and radiographic irregularities including abnormal vertebral segmentation or formation defects, rib deformities, and @PHENOTYPICFEATURE$.	false
+8d61e7ebdfec277f07ba234d12fb9ada25b811b4	Three @PHENOTYPICFEATURE$ models (central pelvic tumour, @DISEASE$ abdominal tumour with or without necrosis) are analysed in detail.	false
+33a40a6e1d32d13acb09b095aff2c2578c34b41b	Three tumour models (central pelvic tumour, @DISEASE$ abdominal @PHENOTYPICFEATURE$ with or without necrosis) are analysed in detail.	false
+2a495c5fe12f34902cf11eedd6aea20e08c5c001	Three tumour models (central pelvic @PHENOTYPICFEATURE$, @DISEASE$ abdominal tumour with or without necrosis) are analysed in detail.	false
+282feb61fb836a01e076acaadb58b232f9db783a	Endosonography showing @DISEASE$ @PHENOTYPICFEATURE$ from the gastric wall in the two patients.	false
+70321d208f9b0593b94db153d9a4fdf6bdba207f	@DISEASE$ @PHENOTYPICFEATURE$ were usually small and responded well to chemotherapy, whereas concentric tumors were large and responded poorly.	false
+eff732b6ea16faf230e4980dd220b0e4798a63d4	@DISEASE$ tumors were usually small and responded well to chemotherapy, whereas concentric @PHENOTYPICFEATURE$ were large and responded poorly.	false
+91c22088138a1fa44ddb30df049c7eb94f2fd7a4	The most common feature of gallbladder carcinoma on different imaging modalities is focal wall thickening, associated with a large @DISEASE$ @PHENOTYPICFEATURE$ mass.	false
+a80f84e83ced839ada0eeb43c7aa509698dfe670	We examined L1 expression in @PHENOTYPICFEATURE$ from 75 @DISEASE$ patients by immunohistochemistry.	false
+692f3fb3fb313c0b46f49dbf82b3ad12d6b76f67	Dorsal root entry zone approach in ventral and @DISEASE$ intramedullary @PHENOTYPICFEATURE$: A report of 2 cases.	false
+4b7125f4607d846023ce45c34c1787399b3e4b90	L1 was not expressed in normal extrahepatic bile duct epithelium but was aberrantly expressed in 42.7% of @DISEASE$ @PHENOTYPICFEATURE$.	false
+3e33d75749af8dcb79ea8a9a698dbedad67820fc	@DISEASE$ @PHENOTYPICFEATURE$ were more often located at the splenic flexure (P = 0.017) and descending colon (P = 0.004).	false
+b842b23ed2f7b43d9fd2d8be4bf6c5b40b511472	In @DISEASE$ @PHENOTYPICFEATURE$, 3D planning significantly increased dose coverage but decreased dosages to OARs compared with 2D planning (p<0.05).	false
+ca6223e62175a2e8ef818d0814d197644e1c91f9	The millimeter scale on the support base allows the accurate lateral displacements of the treatment couch, when @DISEASE$ @PHENOTYPICFEATURE$ most be irradiated.	false
+3efa57abdd433b685cb84616839eeb4a421df7ad	A 64-year-old male patient was studied for repeated right basal @PHENOTYPICFEATURE$ of long @DISEASE$.	false
+98a489fc398fcb5a04ea5fff5db4f6acc886c389	@PHENOTYPICFEATURE$ was diagnosed in 142 patients in the RS group (RS-A subgroup) and in 201 of those in the @DISEASE$ group (DRS-A).	false
+55ed1d97f66f05aabe97db652894edf809bc1880	@PHENOTYPICFEATURE$ was associated with earlier onset of epilepsy, longer epilepsy @DISEASE$, and FCD type I histology.	false
+08392a857b21954f64374c77c22531994ceeddf6	Analgesia @DISEASE$, offset time of motor block, frequency of rescue analgesic administration, postoperative nausea/@PHENOTYPICFEATURE$, and sleep disturbance during the night after surgery were recorded.	false
+21dc74ffe043b1a2f28d9cd04033f07ba71d052a	A 22-year-old, right-handed housewife presented with complaints of headache, vomiting, @PHENOTYPICFEATURE$, and right upper limb weakness of short @DISEASE$.	false
+8c872e4437d1c045a6e722fee814af160f455dea	A 22-year-old, right-handed housewife presented with complaints of headache, @PHENOTYPICFEATURE$, generalized tonic-clonic seizures, and right upper limb weakness of short @DISEASE$.	false
+878ed2c727518e57e6dfbd8751aa6adb869e65ea	A 12-year-old girl presented with @PHENOTYPICFEATURE$, fever, and hearing impairment of 6 months @DISEASE$.	false
+8c098f4476aa38ab8592b9d6ff080e2716bed0e9	Presence of DOI CT abnormalities were associated with the development of @PHENOTYPICFEATURE$, which was associated with poorer rehabilitation discharge @DISEASE$ and FIM scores.	false
+6ca2c7d794039c606848852e0e903a09c958d7d8	Increased VBR, as an index of @PHENOTYPICFEATURE$, was associated with worse rehabilitation discharge @DISEASE$ and FIM ratings.	false
+5f70efa4f735e879be3c7f6fcd0446ec07f9c33c	Common adverse effects include a rapid onset of drowsiness, nausea, @PHENOTYPICFEATURE$, myoclonic seizures and coma of short @DISEASE$.	false
+a133bf8916c97d743dc79a15241a0091682e1ad1	@PHENOTYPICFEATURE$ was diagnosed by neuropsychologists utilizing the Mattis Dementia Rating Scale-2 (@DISEASE$).	false
+81aeec18ad9ce50d04ace528916091d8ffe45afe	Diagnosis of @DISEASE$ may be difficult because of the variety of clinical and @PHENOTYPICFEATURE$ and manifestations and because the syndrome may mimic infectious, neoplastic, or collagen vascular disorders.	false
+3bc77a926fbddf85407f0aa0ba630e4770496dd9	A severe form of this with a generalized exanthem, @PHENOTYPICFEATURE$ and liver involvement has been termed the allopurinol hypersensitivity syndrome (@DISEASE$).	false
+5d8b01b84044196b6c119b0e3314e14fdcba2974	She was given extended-release VPA as a trial and developed @DISEASE$ with a generalized rash, @PHENOTYPICFEATURE$, liver and kidney involvement, and eosinophilia one week after the initiation of treatment.	false
+dde35f27622771edab1d01c41781bc05ad0c8ce3	We herein report a 5-year-old boy who developed unexpected agranulocytosis with fever approximately one week after recovering from the typical symptoms of @DISEASE$, characterized by @PHENOTYPICFEATURE$, rash, lymphadenopathy, and hepatitis, but lacking eosinophilia or lymphocytosis.	false
+de57cb5c7a1001a6d3c095db50db169ede0d72f9	The clinical manifestations of @DISEASE$ include a triad of symptoms consisting of dermatologic rashes, @PHENOTYPICFEATURE$, and evidence of systemic organ involvement.	false
+032660ffb130abd9c67a3f320e968676141a296a	@DISEASE$ is typically associated with the development of skin rash, @PHENOTYPICFEATURE$ and internal organ dysfunctions.	false
+62dbb632169d34a7267f7410e938d1abb8cea89d	Anticonvulsant hypersensitivity syndrome (@DISEASE$) is characterised by @PHENOTYPICFEATURE$, skin rashes and involvement of the internal organs.	false
+9557c65c47ec1613e0c5f1e2d0e2fa13ee93ff32	Anticonvulsant hypersensitivity syndrome (@DISEASE$) is a rare, potentially fatal, idiosyncratic drug reaction characterized by @PHENOTYPICFEATURE$, morbilliform rash, lymphadenopathy, hepatitis, and hematologic abnormalities.	false
+67f7347ac3cd07f6c8f9354f6fdc478225bdcdb2	Fourteen of 36 children who experienced a rash, urticaria, pruritus, @PHENOTYPICFEATURE$, or hepatotoxicity associated with aromatic anticonvulsants met the criteria for @DISEASE$ (mean age 10.4 +/- 6.5 y; males to females 8:6, white to African-American to biracial 10:3:1).	false
+873d7a00b6e676ba8a15180de5617e0246958224	@DISEASE$ is an infrequent, but potentially serious, clinical entity and must therefore be suspected in patients taking AED who develop @PHENOTYPICFEATURE$, rashes or disorders affecting the internal organs.	false
+3733ac03d52648e2f5d2ed07e009503fc8c6d9ea	X-linked @DISEASE$/mental retardation syndrome: a case with @PHENOTYPICFEATURE$, caused by a novel mutation in ATRX gene.	false
+b847c0f96f32cf9f125db2251def3355218c0c5e	Electromagnetic fields, age, male sex, @DISEASE$, @PHENOTYPICFEATURE$, alcoholism seem to be associated with lower melatonin secretion.	false
+b0d3093a314588fd6e494f8e144b10a2bcb8492f	@DISEASE$ caused by cortisol-producing adrenal adenomas is a rare condition, associated with high morbidity due to weight gain, diabetes mellitus, osteoporosis, hypertension, @PHENOTYPICFEATURE$, mood disturbance and others.	false
+2eb465578e98d1e94987b33d4409943af0728abe	@DISEASE$ due to adrenal cortical @PHENOTYPICFEATURE$.	false
+9e8b6823699eb87e2a0972f8fac7518e300a81f5	PCO and PCOS are common in women with Cushing's syndrome; women with @DISEASE$ and only moderately elevated cortisol secretion maintain gonadotrophin stimulation to the ovary with normal oestradiol levels, in contrast to women with Cushing's syndrome and higher cortisol secretion who develop @PHENOTYPICFEATURE$.	false
+4704bec13c13f48428ca6479f4c34302c6cf6a64	PCO and PCOS are common in women with Cushing's syndrome; women with Cushing's syndrome and only moderately elevated cortisol secretion maintain gonadotrophin stimulation to the ovary with normal oestradiol levels, in contrast to women with @DISEASE$ and higher cortisol secretion who develop @PHENOTYPICFEATURE$.	false
+3aea233b571d51917e7b4c46241ed87e7d73151e	The diurnal rhythm is absent or abnormal in certain disease states, including diabetes mellitus, @DISEASE$, hyperaldosteronism and @PHENOTYPICFEATURE$.	false
+1ddff86a5174f8faf57a686701adf5114d42de21	databases using the keyword "metformin" plus the following terms: "thyroid cancer," "thyroid nodules," "parathyroid," "hyperparathyroidism," "adrenal adenoma," "@DISEASE$," "hyperaldosteronism," "adrenocortical cancer," "neuroendocrine tumor (NET)," "pancreatic NET (pNET)," "carcinoid," "pituitary adenoma," "pituitary neuroendocrine tumor (PitNET)", "prolactinoma," "pheochromocytoma/@PHENOTYPICFEATURE$."	false
+9e94b0f92f1bb3a9d6ff34d5e72bb925c766887e	databases using the keyword "metformin" plus the following terms: "thyroid cancer," "thyroid nodules," "parathyroid," "hyperparathyroidism," "adrenal adenoma," "@DISEASE$," "hyperaldosteronism," "adrenocortical cancer," "neuroendocrine tumor (NET)," "pancreatic NET (pNET)," "carcinoid," "pituitary adenoma," "pituitary neuroendocrine tumor (PitNET)", "prolactinoma," "@PHENOTYPICFEATURE$/paraganglioma."	false
+26c8e268e21e331ec2a543b551f74a32dbf39664	@DISEASE$ associated with an adrenal @PHENOTYPICFEATURE$.	false
+13df461fec9f43c75fc63f6c214be2b513dca6ee	This case report describes the diagnosis of @DISEASE$ due to macronodular adrenal hyperplasia in an elderly woman who presented with fatigue, @PHENOTYPICFEATURE$ and oedema, and recent excessive bruising.	false
+eb9f6b3261cc3262bba8de2f2cd3b835485bdd69	She consulted with us because of general fatigue, facial edema, and @PHENOTYPICFEATURE$ and was diagnosed with @DISEASE$.	false
+7f67dfc5647bd54c97c33cc286eb79244f2b9598	A 34-year-old female presented with a constellation of symptoms of @DISEASE$, including facial swelling, @PHENOTYPICFEATURE$ and cognitive impairment.	false
+a9407650278ae94580b93f36aaf7dd7444d57a3a	Children with inborn @DISEASE$ of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit @PHENOTYPICFEATURE$ and neurologic abnormalities.	false
+cf03dae508632eb956dbb58b953bc2cd8c7da7e4	Most inborn @DISEASE$ of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, @PHENOTYPICFEATURE$, comas, hypertonia, abnormal movements and frequent humoral disturbances (organic acidaemias, congenital urea cycle defects); (2) those which lead to a neurological distress 'energy deficiency' type.	false
+877e9d44259088673de25f7827f4df00394cb693	This article reviews current concepts in pathologic classification of lung cancer based on the 2004 World Health Organization classification of @PHENOTYPICFEATURE$ and the 2011 International Association for the Study of Lung Cancer (IASLC)/American Thoracic Society (ATS)/European Respiratory Society (@DISEASE$) classification of lung adenocarcinoma.	false
+339ae954a09f92fae2794c44355c3abe8d998873	Methylmalonic acidemia (MMA) is an inborn @DISEASE$ of organic acid metabolism that occurs in infancy with hypotonia, @PHENOTYPICFEATURE$, dehydration, lethargy and failure to thrive and is biochemically characterized by metabolic ketoacidosis, hyperammonemia and sometimes hyperglycinemia.	false
+9ccbb5594164e61740838de2e24a592007482f29	We also measured the incidence of B12 deficiency with the BBT in 119 patients with @DISEASE$, Crohn's disease, small intestinal bacterial @PHENOTYPICFEATURE$, and subjects over 65 years of age.	false
+b3148290240020e7691196140e80834cdd1a7e25	Other possible risk factors include @DISEASE$, @PHENOTYPICFEATURE$ and type 2 diabetes.	false
+c967bd44bd8c9ba0082eb7d207e8effab2e10df2	Cigarette smoking, @PHENOTYPICFEATURE$, diabetes mellitus, and @DISEASE$ are amenable to medical prevention or therapy.	false
+477f3cce88c2c15db33f5864898d232ab77748f6	@DISEASE$ and small intestinal bacterial @PHENOTYPICFEATURE$.	false
+1f86a85849fb91a34e5469bc9f0cce0530950f7d	There is paucity of literature on the relation of @PHENOTYPICFEATURE$ with recurrent and @DISEASE$.	false
+19c9e6ed2c4a6c9d979de67b920adfdcb2c9c784	Best practice advice 4: Alternative pathophysiologic mechanisms should be considered and evaluated (small intestinal bacterial @PHENOTYPICFEATURE$, bile acid diarrhea, carbohydrate intolerance, @DISEASE$) based on predominant symptom patterns.	false
+2e6b7fa25f1946b0edd44327414cc28ddec45e78	Other articles review specific disorders such as celiac disease, bacterial @PHENOTYPICFEATURE$, and @DISEASE$.	false
+9198c8b2df07dac6157a8c22f4a445a8c667b549	Small intestinal bacterial @PHENOTYPICFEATURE$ is common both among patients with alcoholic and idiopathic @DISEASE$.	false
+8ce6e5a30fcbf3bfc1c3693a6451e7ffd8f1e571	Risk factors include smoking, @PHENOTYPICFEATURE$, heavy alcohol, and @DISEASE$.	false
+a01b1e961c4914fdde9986950c42b68fee9e6042	Previous gastroduodenal surgery was more common in @DISEASE$ patients with @PHENOTYPICFEATURE$ (six of six vs. four of nine; p < 0.05).	false
+bb3ba3a8d94c56d004cbf7b622997986c6c4c1b9	Neurodegeneration with brain iron accumulation, type 1 (NBIA 1), or @DISEASE$, is a rare neurodegenerative disorder characterized clinically by Parkinsonism, @PHENOTYPICFEATURE$, pseudobulbar features, as well as cerebellar ataxia, and neuropathologically by neuronal loss, gliosis, and iron deposition in the globus pallidus, red nucleus, and substantia nigra.	false
+f7fcf99f77635f89fe0c454cbdd0042a36bc1146	@DISEASE$-@PHENOTYPICFEATURE$ (pseudotrisomy 13) syndrome: case report and diagnostic criteria.	false
+c00a55001bb9556c42543c44e9626e913c2f7aea	Mutations in GLI2 have been associated with holoprosencephaly (@DISEASE$), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and @PHENOTYPICFEATURE$.	false
+4cdae71af74f90fe1755cb2ea511171a5d798e62	To test this hypothesis we studied a patient with @DISEASE$, @PHENOTYPICFEATURE$, and craniofacial dysmorphologies consistent with the diagnosis of Trisomy 13 whose karyotype was normal.	false
+3e5948dd9856626df6c5d5e17bd25c1fe6fe89e4	A new case of @DISEASE$-@PHENOTYPICFEATURE$ syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.	false
+9671bb6f93021ffccfa761c0e7e0b38baaeb6f14	@DISEASE$-@PHENOTYPICFEATURE$ ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes.	false
+43d4082abc38e55dec99d0a52dcd49e004e83521	Dysmorphology report @DISEASE$-@PHENOTYPICFEATURE$ syndrome: affected brother and sister with a wide spectrum of anomalies.	false
+e9cb9a941187d3596ecbe9a29ff0f66325b3cf5b	Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with @DISEASE$-@PHENOTYPICFEATURE$ syndrome (HPS), also termed pseudotrisomy 13.	false
+bb7aca6f3998af41120f344be88a293f11aef030	Patients with a combination of holoprosencephaly and @PHENOTYPICFEATURE$, but with apparently normal chromosomes, may be clinically diagnosed with @DISEASE$-polydactyly syndrome (HPS), also termed pseudotrisomy 13.	false
+09cbb56daa13d2080aec402ce95589e26fe760e3	We report a new case of a fetus with @DISEASE$-@PHENOTYPICFEATURE$ syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung.	false
+0ba6323e1a51c842bafcf06fe8f87c15962a240a	@DISEASE$ (EDMD) is characterized by @PHENOTYPICFEATURE$ and is caused by mutations in the LMNA gene encoding A-type lamins.	false
+d196117c84dea7b246fd4d1fe62816cb411eb27d	In this study, we report the case of an adolescent @DISEASE$ patient presenting with severe facial pain, proptosis and @PHENOTYPICFEATURE$ due to a mass arising from the ethmoid sinus that invaded the right orbit and frontal lobe.	false
+c0a1da57a0655d0a020fdce12214c38f6aae3a84	In this study, we report the case of an adolescent @DISEASE$ patient presenting with severe facial @PHENOTYPICFEATURE$, proptosis and visual impairment due to a mass arising from the ethmoid sinus that invaded the right orbit and frontal lobe.	false
+a59ad219fc958783dad3bf21173e1317d840557b	Autosomal dominant @DISEASE$ with early @PHENOTYPICFEATURE$.	false
+fa5ccaab4d947455410476d83b8cc127ebc22172	The bedridden osteomalacic patient with @DISEASE$ in pre-terminal @PHENOTYPICFEATURE$.	false
+82321ef6a98a622058eaf34a207d7cf1549767a9	@DISEASE$ and @PHENOTYPICFEATURE$ induced by tenofovir: a first case report.	false
+7a4088a0fa8a81bfe28eb403bf8f126bdd6fe75d	Isolated cases of @PHENOTYPICFEATURE$ and @DISEASE$ require further investigation.	false
+27c9414942f65c4a000017980235055532fd5cde	Mandibular joint involvement in a case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+125d0b6e27511dca1e9ef46854c352108c2bfa51	[Chinese herbs-induced @PHENOTYPICFEATURE$ with @DISEASE$: a report of 6 cases].	false
+f25799b2f5831287e8e280a866ada97b1a49976d	Tenofovir-associated nephrotoxicity: @DISEASE$ and @PHENOTYPICFEATURE$.	false
+aed1a844477b0092f5726e1cdc58b8926a9210b1	Progressive @PHENOTYPICFEATURE$ epilepsy with @DISEASE$.	false
+6ffaa710e65dfded52a94dad4d69a777bc4ef809	Glomerular protein sieving and implications for @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7696cc4c1e5c3ffe44c780aae9d0bb81158e5207	@DISEASE$, interstitial fibrosis and @PHENOTYPICFEATURE$ by aristolochic acid in Chinese herbs.	false
+924d94dcc81dc9d3f987932eddf4bd59d95461eb	CDH23 null alleles cause deaf-@PHENOTYPICFEATURE$ (@DISEASE$; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12).	false
+7fc68b63081078dd35d83015958d8d3c9db7bade	Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of @PHENOTYPICFEATURE$ with susceptibility to cancer, cartilage hair hypoplasia, and @DISEASE$.	false
+2749953681da0a7773287e201b3937e29479166b	We tested the hypothesis that recessive @DISEASE$ (M1M 250460), a disorder presenting with @PHENOTYPICFEATURE$ and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency and other extra skeletal features, might be allelic to CHH.	false
+085c3d07826a608847052dc4180667b049d6e187	We conclude that recessive @DISEASE$ is a variant of CHH, manifesting only as @PHENOTYPICFEATURE$ and metaphyseal dysplasia.	false
+cfe170fb9407c3a651d0b7640663ba8c175dc90c	Here, we will report an eighteen year old male patient who presented with flaccid quadriparesis and was subsequently found to have rhabdomyolysis, @PHENOTYPICFEATURE$, skeletal deformities and primary @DISEASE$.	false
+7e007cf605255a4f692cb422c1e6d583f5457953	The pulmonary histopathological changes were categorized as diffuse alveolar damage, @PHENOTYPICFEATURE$, alveolar hemorrhage, and @DISEASE$.	false
+bdf77923795f48ece660b67a58b3d94d5c66af33	The principal pulmonary histopathological alterations resulting in immediate death were diffuse alveolar damage (DAD), @PHENOTYPICFEATURE$, @DISEASE$ (LIP) and alveolar hemorrhage.	false
+d8b7438d5b2c17f6e72121e9daaf12cba6b17ed3	The pictorial includes images of normal anatomy, emphysema, idiopathic pulmonary fibrosis, Langerhans cell histiocytosis, sarcoidosis, bronchiolitis obliterans organizing pneumonia, desquamative interstitial pneumonia, nonspecific interstitial pneumonia, @DISEASE$, @PHENOTYPICFEATURE$, tuberculosis, cytomegalovirus pneumonia, bronchiectasis, and panbronchiolitis.	false
+5358a2532f671902f0e468ddf0ed20f30dbbe4fd	@DISEASE$ is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, @PHENOTYPICFEATURE$, microtia, and abnormal pulmonary function.	false
+d75edfc17be969c464103d529a1c73765ac2dbe0	Depressed neutrophil-mediated @PHENOTYPICFEATURE$ cell cytotoxicity in subjects affected by hereditary @DISEASE$ and secondary neoplasia.	false
+5a908f6f5df13faa493d63ec43870553ec067e29	Depressed neutrophil-mediated tumor cell cytotoxicity in subjects affected by hereditary @DISEASE$ and secondary @PHENOTYPICFEATURE$.	false
+2ae1531321beff893eea2b1ba8663ebbc064d992	There appears to be a high incidence of malignancy in patients with complete @DISEASE$, suggesting a relationship between a defective MPO system and neutrophil-mediated @PHENOTYPICFEATURE$ cell cytotoxicity.	false
+d0bbe2d752c42dcc57db6a0c3b2cca74f8a62cec	Does a relationship exist between neutrophil @DISEASE$ and the occurrence of @PHENOTYPICFEATURE$?	false
+986cb6595ad063c3fd139e75b59da2df327f1070	Partial @DISEASE$ was noted in the circulating polymorphonuclear leukocytes and the more differentiated @PHENOTYPICFEATURE$ cells in the granulocytic sarcoma.	false
+0158dd0f0b52abb47596dfd31f8fc63f49448303	Neutrophil function of patients with neutropenia, paroxysmal nocturnal hemoglobinuria(PNH), @PHENOTYPICFEATURE$, systemic lupus erythematosus(SLE), @DISEASE$, myelodysplastic syndrome(MDS), and diabetes mellitus were within the reference interval as evaluated by this method.	false
+ac136e2a24be5456ef9218604b7510f50f1bec29	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (@DISEASE$) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+6dcdccf53c5b58246cbb2696700bfce8b7c9112b	Corneal Dystrophy and Perceptive @PHENOTYPICFEATURE$ (CDPD) or @DISEASE$ is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life.	false
+f118ce16c865177a1799de0e39c1f370623f953a	@DISEASE$, or corneal dystrophy and perceptive @PHENOTYPICFEATURE$ (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive deafness, and is transmitted as an autosomal recessive trait.	false
+945942751d3b741b9547ef9656f055ccb7ef9db0	@DISEASE$, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive perceptive @PHENOTYPICFEATURE$, and is transmitted as an autosomal recessive trait.	false
+cab1b226cd19d749ab092ea2176ab20e05017711	Mutations in the SLC4A11 gene, which encodes a plasma membrane borate transporter, cause recessive congenital hereditary endothelial corneal dystrophy type 2 (CHED2), corneal dystrophy and perceptive @PHENOTYPICFEATURE$ (@DISEASE$), and dominant late-onset Fuchs endothelial corneal dystrophy (FECD).	false
+95673eafb28258a8a42c0efcf923c6ef5eb4e2e4	We studied two siblings with the rare association of corneal dystrophy and perceptive @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a1c09eae85ee0f6bf4dfa9e09a78ccaf960048bd	Corneal dystrophy and perceptive @PHENOTYPICFEATURE$ (@DISEASE$): CDPD1 maps to 20p13.	false
+a2ddb4c1104be35e37f985bae241a2568ccdfa6c	A new method for measuring bone mineral density (@DISEASE$) of the tarsal and metatarsals is described using volumetric quantitative computed tomography (VQCT) in subjects with diabetes mellitus and @PHENOTYPICFEATURE$.	false
+ec5586542f033c4ee0534c8de8a3e008d35471eb	We demonstrate, in a premenopausal population of infertile women, evidence of morbid accompaniments to VMS, including @PHENOTYPICFEATURE$ and evidence of low @DISEASE$.	false
+9cd934a76ef17bd8cb11c2fe53eb722aaecd950a	No significant correlation was observed between the apnea hypopnea index, the Epworth @PHENOTYPICFEATURE$ Scale scores, desaturation index, and @DISEASE$ parameters (all for p > 0.05).	false
+06b29c808da1ddc9bd142caf42421e6396f952c5	However, in contrast to diabetic nephropathy and @PHENOTYPICFEATURE$, which are associated with low bone mineral density (BMD), little is known about the association between @DISEASE$ and diabetic retinopathy.	false
+6f726fcef2cfdadd16966c906a6035fe1bc26f7b	However, in contrast to diabetic nephropathy and @PHENOTYPICFEATURE$, which are associated with low bone mineral density (@DISEASE$), little is known about the association between BMD and diabetic retinopathy.	false
+cdf728f3b3d0466f096eba9f99a7df1108caab8a	after adjustment for age, femoral neck @DISEASE$, falls, @PHENOTYPICFEATURE$, physical activity, and prior fracture.	false
+1034083667eee038019d7cf852f1a03dfc43bbb1	To determine local and systemic markers of inflammation and bone mineral density (@DISEASE$) in the foot and central sites in participants with diabetes mellitus and @PHENOTYPICFEATURE$ (DMPN) with and without acute Charcot neuropathic osteoarthropathy (CN).	false
+0f5c0ad4e28f9aa0884e8e2bb7cc293386f5391a	To investigate whether @PHENOTYPICFEATURE$ (PN), as part of the microangiopathic complex, affects bone mineral density (@DISEASE$) of the peripheral or the axial skeleton in patients with type 1 diabetes.	false
+5b63c5f7169df57b800b60e07a4bce69f73497ef	From the observations of different research groups reporting on reduced bone mineral density (BMD) and on a pronounced tendency for kidney stone formation, both in HIV-infected patients, and from results achieved in the treatment of severest @PHENOTYPICFEATURE$ with lasers, it is concluded that nanobacteria (NB) could actively contribute to the reduction of @DISEASE$.	false
+fc5d98171c9c7fa5b22d227a4a04f137ae6473f4	From the observations of different research groups reporting on reduced bone mineral density (@DISEASE$) and on a pronounced tendency for kidney stone formation, both in HIV-infected patients, and from results achieved in the treatment of severest @PHENOTYPICFEATURE$ with lasers, it is concluded that nanobacteria (NB) could actively contribute to the reduction of BMD.	false
+d45f6902e76065856020318429592c3d082eacd8	The purpose of this study was to assess tarsal @DISEASE$ associated with acute inflammation (ie, inflammatory osteolysis) in individuals with chronic diabetes mellitus (DM), @PHENOTYPICFEATURE$ (PN), and recent-onset neuropathic (Charcot) arthropathy (NCA) of the foot.	false
+9c7a71129f523a97e81c2fa2aeff7f52de64e373	Also no correlation was found between @DISEASE$ and blood tests, HCV/@PHENOTYPICFEATURE$ status, BMI and smoking.	false
+0b3e7b41c155f0872539dad0df770ab5508252ea	@DISEASE$ (GD) is an autosomal recessive disorder characterized by short stature, brachydactyly, stiff joints, thick skin, and cardiac @PHENOTYPICFEATURE$ that are often responsible for early death.	false
+46f4257cbc900e50b8804d8f9c641020c6ebd1e3	This review addresses theneuroanatomical basis and the mechanisms of sleep regulation in humans in relation to the neuropathology of entities associated with @PHENOTYPICFEATURE$ in selected diseases, including Alzheimer disease, progressive supranuclear palsy, Lewy body disorders, multiple-system atrophy, and @DISEASE$.	false
+2eec85344ccee8495bfae3faf4d591704186b23c	The major clinical diagnosis associated with @DISEASE$ were Guillain-Barre syndrome (30.2%), @PHENOTYPICFEATURE$ (16.2%), transverse myelitis (10.6%) non-polio enterovirus infection (6.2%), and hypokalaemic paralysis (5.2%).	false
+9eb0c0d0c9a4dfc80433a91671c20c960a2ce648	Deletions or mutations in the gene encoding the basolateral chloride channel CLC-Kb (CLCNKB) cause @DISEASE$ (MIM 602023), which is characterized by hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism and @PHENOTYPICFEATURE$.	false
+f2536584f27112c31e02e2c5bb4a9e33827f77c3	High-intensity drinking (@DISEASE$; ie, having 10+ drinks in a row) is a recognized public health concern due to the individual and public risks (eg, alcohol-related injuries, alcohol poisoning, @PHENOTYPICFEATURE$, sexual risk) associated with consumption of a large quantity of alcohol over a relatively short time period.	false
+b0526bcd2ebe1fe3e57e18ce3b38b07960530ce5	The exenterated mastoid behind an intact posterior ear canal wall is one of the preconditions for the development of @DISEASE$ @PHENOTYPICFEATURE$ recurrences.	false
+e4f145c5e26e0461faed83c0e1ed6bb0576df169	At birth he showed bilateral buphthalmos with @DISEASE$ and congenital @PHENOTYPICFEATURE$, agreeing with Peters' anomaly.	false
+6ca0492e439e09b33946d437b1672c0c23f489c8	An 8-year-old female patient was referred to our glaucoma clinic with @DISEASE$, nystagmus and bilateral @PHENOTYPICFEATURE$ with right eye being phthisical.	false
+6025da2455d8f713c778777fafd0b50a58b805f5	Congenital @PHENOTYPICFEATURE$ (Peters' anomaly) combined with buphthalmos and @DISEASE$.	false
+de87c6ebdaa975d088fc6060b4cbdf42fcd460ec	In addition to multiple failed corneal grafts, other ocular conditions for which the Boston KPro has been used include herpetic keratitis, @DISEASE$, autoimmune ocular disorders, and pediatric @PHENOTYPICFEATURE$.	false
+94fb20048f74d1a9b0fdbd72cf7f42235781ce7d	@DISEASE$, congenital glaucoma, and @PHENOTYPICFEATURE$ in a male infant with ring chromosome 6.	false
+9f2cec6a26c1a4114cf61b43eede22f904e32e2a	The indication for keratoplasty was injury for 13 grafts, non-traumatic acquired corneal opacities for 11, keratoconus for eight, corneal dystrophy for seven, congenital @PHENOTYPICFEATURE$ for six and @DISEASE$ for three grafts.	false
+c156212b4cdeb884c32cd4f1ad4baf207d2e2183	@DISEASE$ and @PHENOTYPICFEATURE$: an inherited disorder.	false
+6e1a0aae9c073e80b6b2a56d9ae48fc7f96cb0b3	The mean body mass index and the prevalence of @PHENOTYPICFEATURE$ in subjects with @DISEASE$ was significantly greater (P = 0.003) than in siblings without aniridia.	false
+bdc76306166e59f08d9d44df4cebf488a9e4ad46	The mean body mass index and the prevalence of @PHENOTYPICFEATURE$ in subjects with aniridia was significantly greater (P = 0.003) than in siblings without @DISEASE$.	false
+86c0e22f25aff872bd34ffd9ba56fc8f0dfbb8ac	The ocular phenotype related to FOXC1 included aniridia, @PHENOTYPICFEATURE$ and early onset glaucoma, while an asymmetric ocular phenotype and @DISEASE$ were associated with PITX2.	false
+77bd959dd34186fedc3685316e7f8358d0d9009b	The ocular phenotype related to FOXC1 included @DISEASE$, @PHENOTYPICFEATURE$ and early onset glaucoma, while an asymmetric ocular phenotype and aniridia were associated with PITX2.	false
+8678351278a36c8daa50bc9c74d76f688eff1d5b	Other congenital abnormalities were @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, nystagmus, and cleft palate.	false
+b8f96903559b483bca8b8206d505dc9bad253fd5	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (@DISEASE$, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+eec7571ffc31d4c149b3937dec267987c2b3c3c4	[Morphology of @PHENOTYPICFEATURE$ in @DISEASE$].	false
+588760a749b3f9b8d2a786aabbc92b1c8f4d18bf	@DISEASE$, acromegaly, and colorectal @PHENOTYPICFEATURE$.	false
+35340c19ca031047bf451339663c82685d792803	Pseudo-@DISEASE$: hypergastrinemia, hyperchlorhydria without @PHENOTYPICFEATURE$.	false
+67c8a656fee9ed8f87e59ff950466fa92cde6525	Higher than normal values were found in one subject affected by the @DISEASE$, and in patients with severe @PHENOTYPICFEATURE$.	false
+9fbd971c74574b33683d9808f8f0ab0899826993	Their relations with Langerhansian @PHENOTYPICFEATURE$ and @DISEASE$].	false
+8e67c92080f845cfee1b80b525497455e4084ebd	@DISEASE$ caused by a duodenal wall @PHENOTYPICFEATURE$.	false
+d494b38f9e69db5472937d09a4c622c811e18207	Duodenal wall @PHENOTYPICFEATURE$ and the @DISEASE$.	false
+fda26ebc8cc51541221c21f5743d4ebed7a1b24d	Diagnosis of non-@DISEASE$, non-carcinoid syndrome, enteropancreatic neuroendocrine @PHENOTYPICFEATURE$.	false
+2e2e9a7bb743c5899856a3ffb9f53aadda6b059b	Cytology of islet @PHENOTYPICFEATURE$ and hyperplasias associated with the @DISEASE$.	false
+253193db2adc42d61ab11b1e0d64424ba4fec992	[The structure of @PHENOTYPICFEATURE$ in the @DISEASE$].	false
+a81a30164c21063e5578f591295dc1cc3885b86f	They can develop de novo or due to progression of indolent forms and can present in different ways; either as MC @PHENOTYPICFEATURE$ or as advanced SM which includes aggressive SM, @DISEASE$ leukemia, and SM with an associated hematological neoplasm.	false
+88d58706445df72d181ef22e7e56fb5ad3885482	They can develop de novo or due to progression of indolent forms and can present in different ways; either as @DISEASE$ @PHENOTYPICFEATURE$ or as advanced SM which includes aggressive SM, MC leukemia, and SM with an associated hematological neoplasm.	false
+ed9a6359245a1c59d3043a745c755cd8617b26de	The case of a young female patient with chronic active hepatitis B, vasculitic purpura, @PHENOTYPICFEATURE$, and circulating immune complexes due to @DISEASE$ is described.	false
+884914737ee95c5017370d09f7c9b874e8bdd353	We report a 55-year-old man with PAN revealed by CNS vasculitis with subarachnoid hemorrhage and brainstem vasogenic @PHENOTYPICFEATURE$, associated with @DISEASE$.	false
+d656829f6e05b5889b7024076ebafa160f2d189a	The histologic and immunofluorescent synovial changes in the arthropathy of @DISEASE$, which was not previously been characterized, are marked by diffuse eosinophilic infiltration and @PHENOTYPICFEATURE$.	false
+765c673649103946478b3077d43ef91448836c7c	[Essential @DISEASE$ with severe peripheral neuropathy and @PHENOTYPICFEATURE$ -- inducing remission by cascade filtration].	false
+9844f6a0fccceb71c4423402894fd243a3f87814	[@DISEASE$ with accompanying angioneurotic @PHENOTYPICFEATURE$].	false
+ba728b6271cdc4cbb9c4cdc65d8b58cfb9bd8263	We report the case of a 76-year-old male who had undergone a radical cystectomy with ileal loop conduit for @DISEASE$, who presented with recurrent episodes of @PHENOTYPICFEATURE$.	false
+ff3d3fcae4f80821e7a4591066265f0eab3982ad	Anorexia, nausea, @PHENOTYPICFEATURE$ and decrease in WBC were observed, but rates of having discontinued the administration of UFT were very low, being 9.1% in @DISEASE$ and 10.0% in renal cell carcinoma.	false
+6b8f2043895aaa912843ae452d4f1e37e4e86f39	Locally advanced @DISEASE$ causes unpleasant symptoms such as irritative voiding symptoms, lower @PHENOTYPICFEATURE$, gross hematuria and urinary retention, and lowers the quality of life.	false
+0e534968acff492a8d960bf92e9790cc675f97b1	A 70-year-old man with @DISEASE$ received a total cystectomy and an ileal conduit 64 months before he visited our hospital with complaints of lower @PHENOTYPICFEATURE$, shaking and chilliness.	false
+be55f91d364fbd18f573c7238614abb7512b8258	Ring finger protein 1 (Ring1) have recently been reported to be closely related to aggressive tumor features in multiple cancer types, including @PHENOTYPICFEATURE$, non-small-cell lung cancer, and @DISEASE$.	false
+f40a504e403ead71d92c020a8510035e13c76852	A 48-year-old man presented complaining of lower @PHENOTYPICFEATURE$, and was diagnosed with invasive @DISEASE$.	false
+a719f8fecd2a1778b1b12bafd1331f3a349ce0ed	We discuss here a case of bilateral ureteric rupture in a 74-year-old man with @DISEASE$, presenting oliguric acute kidney failure and a light @PHENOTYPICFEATURE$.	false
+38ebcc8225316e3385cda89f5f74d6244511d24e	The commonest etiology is intervention for localized @PHENOTYPICFEATURE$ and/or radical cystoprostatectomy for muscle invasive @DISEASE$.	false
+2cb2acbfb9acd3f140c17400a4a2afdc0fc03e00	A 66-year-old man who had undergone a @DISEASE$ procedure 2 years ago and was hospitalized for the second operation, complained sudden @PHENOTYPICFEATURE$.	false
+b673cf379fbbb9bc458c8cf45135b62bad265583	@PHENOTYPICFEATURE$ status is associated with decreased risk of aggressive urothelial @DISEASE$.	false
+d86810bbfc0d7bb910fac4cd210b36d22b5ca859	Non-traumatic brachial plexopathies may be due to @PHENOTYPICFEATURE$, radiotherapy, thoracic outlet syndrome and idiopathic @DISEASE$.	false
+f604f64bc15ba8984a35b4c2bf4cce3c0beefb90	Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$ and broad thumbs, consistent with @DISEASE$ are described in a family of four affected females over three generations.	false
+296438d50d3c5c7b8c2ac25978b47901b0a238d9	@DISEASE$ is characterized by coronal craniosynostosis, hypertelorism, telecanthus, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+dc8fc15e3d540f4c9eb72d786fc33ec4bf164228	The diagnosis of @DISEASE$ was established in a 9-month-old male child with a history of recurrent convulsive @PHENOTYPICFEATURE$ and hypoglycemia.	false
+9dd57d37cac5bd2fcc4862cf6072afb74f09e439	Prominent psychiatric comorbidity in the dominantly inherited @PHENOTYPICFEATURE$ @DISEASE$.	false
+03a3a51fceb7a3558a68989cca6af19d7dd3c42a	@DISEASE$ is a neurogenic @PHENOTYPICFEATURE$ caused by mutations in the gene encoding ?-sarcoglycan.	false
+44eb7218e3ecb407ed29e830924053581f676fa6	@DISEASE$ (M-D) is an autosomal dominant inherited @PHENOTYPICFEATURE$.	false
+e7ac3ab38c0d9061db31e3ba58143f4fa00b27f5	@DISEASE$ (MDS) is a young-onset @PHENOTYPICFEATURE$.	false
+2f46655689ef2794dba2366cb2afd429a1cd8dbe	We evaluated @DISEASE$, a monogenic @PHENOTYPICFEATURE$ as a disease model for inherited psychopathology.	false
+3c4846ed80ae1ca71e306a4a7334508a2b06b938	We report on a boy with @DISEASE$ (M-D), @PHENOTYPICFEATURE$, and malformative anomalies.	false
+f14e4f40364b401f64193994da23283c470f9d24	@DISEASE$ is a rare @PHENOTYPICFEATURE$ featured by myoclonic jerks and dystonia.	false
+78c493bad2e683cc23493f52ddd0ff216bd0beaa	HD phenocopies frequently display additional @PHENOTYPICFEATURE$ such as @DISEASE$, parkinsonism and tics.	false
+b5ed65a195b7db424b3b968831f02a293d565d7f	@DISEASE$ is a @PHENOTYPICFEATURE$ characterized by childhood onset of myoclonus and dystonia.	false
+ec2d6729657ab0b0020634788e44d86ae70486e0	Her neurological examination demonstrated mild cognitive impairment, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5b30e54f69d77a1fd69994508b136f69fa4654c9	All laboratory and imaging findings were normal, besides the low levels of C4 complement component were 4.56 mg/dl (normal values 10-40), functional C1-esterase INH was 10.29% (normal values 80-130) C1-estrease inhibitor (protein) 4.58 mg/dl (normal values 16-33), indicating HAE typ I. Regardless of negative medical history in the family of @DISEASE$, de novo @PHENOTYPICFEATURE$ most probably led to her being the first case in the family.	false
+6dd309f90387c3e2d02877c5bd7e3f7eb35420f7	@PHENOTYPICFEATURE$ and high hematocrit levels during abdominal attacks of @DISEASE$.	false
+738c5f040538e7b2d000fc7e419ef877adf713f5	Allopurinol, a commonly prescribed medication for gout and @PHENOTYPICFEATURE$, is a frequent cause of severe cutaneous adverse reactions (SCAR), which include the drug hypersensitivity syndrome, @DISEASE$, and toxic epidermal necrolysis.	false
+952ee2b2c3a2377705c6ed83cf1d049267843d45	A 44 year-old woman with @DISEASE$ (AML, FAB, M4E) developed @PHENOTYPICFEATURE$ during treatment with anthracyclines for AML.	false
+4fd02869a4cb9be863e5729a0e128b750ce279da	Influence of @PHENOTYPICFEATURE$ on efficacy and toxicity of induction chemotherapy in patients with newly diagnosed @DISEASE$.	false
+bd717ae8761f8bedb82aefeda05d1a5259c28d22	@PHENOTYPICFEATURE$ and @DISEASE$ occurred in less than 2 percent of the patients in each group.	false
+777ca3e5ccc3325e3f6768f2f619fe4f44f5f441	We hypothesized that @PHENOTYPICFEATURE$-induced myelopoiesis would promote the transition of myelodysplastic syndrome to @DISEASE$ and accelerate mortality in obesity.	false
+d6f9fba1b1bac3d6cca7c936c924b856ade9bd12	We hypothesized that obesity-induced myelopoiesis would promote the transition of myelodysplastic syndrome to @DISEASE$ and accelerate mortality in @PHENOTYPICFEATURE$.	false
+d3f8591441be392e65ada574e8ee9bf9a19e7423	Constitutive heterozygous GATA2 mutation is associated with @PHENOTYPICFEATURE$, lymphedema, mononuclear cytopenias, infection, myelodysplasia (MDS), and @DISEASE$.	false
+258548e5d7bf72d0c058f678e9bb587dff5a48cb	FA displays bone marrow failure, @DISEASE$, and head and neck cancers, whereas BS is characterized by @PHENOTYPICFEATURE$, immunodeficiency, and a wide spectrum of cancers.	false
+f0b067dc4948210cfa7535092d0c58155d2c2bdb	A 68-year-old male presented with @DISEASE$, renal failure, @PHENOTYPICFEATURE$, and enlarged kidneys on renal ultrasound.	false
+0eddae5de836a89429cde893815efeb09621f218	We assessed the influence of @PHENOTYPICFEATURE$ on the characteristics and prognosis of @DISEASE$ (AML).	false
+d8b24473548e1153a57ce1b5b54ac9d1521ae7e3	Little is known about the impact of @PHENOTYPICFEATURE$ on the outcome of adult patients with @DISEASE$.	false
+35e2930b7a560a10c824c39c199bec6c471be6d6	Clinical manifestations range from neutropenia, lymphedema, @PHENOTYPICFEATURE$, to severe viral and mycobacterial infections, bone marrow failure, and @DISEASE$.	false
+598e33a5ce4bdbe8abb7a3d4558e876ed5d76969	@DISEASE$ (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and @PHENOTYPICFEATURE$.	false
+b72aed71446e1fd1a9efd80e0878e8e2e2ac75ad	@DISEASE$ (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and @PHENOTYPICFEATURE$.	false
+14fbce3384f98c36811223d715852ec5dc549fa9	Precocious puberty led to diagnosis in 19% of prepubertal patients (n = 131), occurring earlier in patients with @PHENOTYPICFEATURE$ than in patients with @DISEASE$ (P < .02).	false
+5ee2cfd9250be557e883f6bc47bd4afd6f260935	The lesions were craniopharyngioma (n = 56), @DISEASE$ (n = 54), suprasellar arachnoid cyst (n = 25), @PHENOTYPICFEATURE$ (n = 22), germ cell tumor (n = 12), and hypothalamic-pituitary astrocytoma (n = 7).	false
+669a0f2e9662b193b61ab103fdd258f1b237d51e	The @DISEASE$ (ARPK), autosomal dominant polycystic kidney disease (ADPK), multicystic renal dysplasia, obstructive multicystic kidneys and cystic @PHENOTYPICFEATURE$ found in other syndromes with genetic linkage are discussed in this review.	false
+443a2a18a42f2d3671028a3ec18fc6390a047c03	@DISEASE$ is a rare, autosomal dominant syndrome presenting with @PHENOTYPICFEATURE$ of the feet.	false
+77ce07cb52af875e85363d4b1d705ecde2104cc6	@DISEASE$ palmoplantaris is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$.	false
+85567c0dc34d2f1f3e805f00c96d1956cf59ce0d	She has short stature, @PHENOTYPICFEATURE$, conductive hearing loss, skin @DISEASE$ and microtia.	false
+87756a2d7cb304afa5ed71efc9561e0a39885097	PH1 is an inborn @DISEASE$ of the metabolism in which a functional deficiency of the liver-specific peroxisomal enzyme, AGT, causes hyperoxaluria and hyperglycolic @PHENOTYPICFEATURE$.	false
+c3c4f976837cd8724d275bfd3a31e40204f8ab3c	They also targeted inborn metabolic @DISEASE$ (e.g., familial @PHENOTYPICFEATURE$) whose palliation by portal diversion presaged definitive correction with liver replacement.	false
+21c828deef437febd69d96d51c548c191b7fdec5	Alpha-aminoadipic and alpha-ketoadipic aciduria is an @PHENOTYPICFEATURE$ inborn @DISEASE$ of lysine, hydroxylysine, and tryptophan degradation.	false
+edbf7d511aae2d40ea26b35a605e4c33362f3e08	Primary hyperoxaluria type 1 (PH1) is an orphan inborn @DISEASE$ of oxalate metabolism leading to hyperoxaluria, progressive @PHENOTYPICFEATURE$, oxalate deposition, and increased cardiovascular complications.	false
+75230bc5cd4668895dc25681ad0ba1449dd96485	Nasal gliomas are benign @PHENOTYPICFEATURE$ results from embryonic developmental @DISEASE$.	false
+95b8b45b882b1414f8e3bae0bd16eec8cb0b0e90	Phenylketonuria (PKU) is an @PHENOTYPICFEATURE$ inborn @DISEASE$ of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene.	false
+29db8e566c6b72ce8ad4b543d0ee9b0c7247ce4a	Congenital adrenal hyperplasia (CAH) is an @PHENOTYPICFEATURE$ disorder associated with inborn @DISEASE$ of steroid metabolism.	false
+3c52cf6640ceff3783cd99620d91cdc7f53f021d	Inborn @DISEASE$ of bile acid metabolism are rare causes of neonatal @PHENOTYPICFEATURE$ and liver disease in older children and adults.	false
+33c18b092d31f413050e7acba5dc63874f3db447	Guanidinosuccinic acid in @PHENOTYPICFEATURE$, experimental azotemia and inborn @DISEASE$ of the urea cycle.	false
+8d737a6290ad9854cd8cfd2a331ea90bf7716ef8	Nonketotic hyperglycinemia is an autosomal recessive @DISEASE$ of glycine metabolism, characterized by @PHENOTYPICFEATURE$, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death.	false
+f6727cc450eddbb30d637a27dd94876b233ff551	The almost identical symptoms of SIDS and ATP-@DISEASE$ like @PHENOTYPICFEATURE$, heat stroke, and carbon monoxide poisoning support the presented hypothesis.	false
+8ce922da9cd47a0aeefb877db41b80cb16c17986	Bile acid were extracted from 5 ml of urine obtained from five healthy children or from twenty patients with various liver diseases including patients with unknown chronic liver diseases, Zellweger syndrome, peroxisomal bifunctional protein @DISEASE$, tyrosinema type 1, @PHENOTYPICFEATURE$, and patients with progressive familial intrahepatic cholestasis (PFIC) of undetermined type.	false
+4d4cd366be72c866a1a61cd80a30d5a11cabc18c	Mild functional differences of dynamin 2 mutations associated to @DISEASE$ and Charcot-Marie Tooth @PHENOTYPICFEATURE$.	false
+5f15a0075bd683a38d23947c76097272c9d1c70f	Mutations in the DNM2 gene cause two hereditary neuromuscular disorders: dominant @DISEASE$ and Charcot-Marie-Tooth @PHENOTYPICFEATURE$.	false
+3bc9ba3a81b37f5b146a89ac97e0e4847668a5c0	Mutations in several myotubularin genes lead to @DISEASE$ and Charcot-Marie-Tooth @PHENOTYPICFEATURE$.	false
+b8b97ff7b1b39177fac6d1c4e36d7ceff8837da3	Mutations in specific myotubularins result in @DISEASE$ and Charcot-Marie-Tooth @PHENOTYPICFEATURE$; and loss of PTEN function through mutation and other mechanisms is evident in as many as a third of all human tumors.	false
+bb4ff9394e0d6470bc7d335aa56fa1b9229b879c	Mutations of Dynamin 2 (DNM2) are responsible for several forms of neuromuscular disorder such as @DISEASE$, Charcot-Marie-Tooth disease (CMT) dominant intermediate type B, CMT 2M, and lethal congenital contracture syndrome 5. We describe a young man manifesting as length-dependent sensorimotor neuropathy with hypertrophic cardiomyopathy, but his mother only had very mild symptoms of @PHENOTYPICFEATURE$.	false
+dc623fe859ec9bac4671ab49acf6c284b2f9dae1	Loss-of-function mutations in MTM1 cause the severe congenital myopathy called @DISEASE$ (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth @PHENOTYPICFEATURE$.	false
+89320b1bc5e8a8b447551916aa03f4b6809d127c	Administration of adriamycin on week 9 resulted in regression of macroscopic @DISEASE$-LM6 @PHENOTYPICFEATURE$.	false
+370f66159416bb4ab33c563953be78a8a9a1d74d	Hunter syndrome (@DISEASE$ II) is a rare X-linked disorder of mucopolysaccharide metabolism that typically progresses to @PHENOTYPICFEATURE$ and death by 18 years of age.	false
+a271a151f8d924095c95f2fdfc4a0a3feaa97d38	The Sanfilippo type A syndrome, one of the most frequent forms of @DISEASE$ III, is characterized by @PHENOTYPICFEATURE$, progressive neurological degeneration, and mild somatic changes.	false
+7db855c95685ccb3b652ccf149e9446e746d7828	The Sanfilippo A syndrome is an autosomal recessive @DISEASE$ characterized clinically by @PHENOTYPICFEATURE$ and biochemically by storage in tissue and excretion in urine of excessive amounts of heparan sulfate.	false
+4f1274f74301f558db77a7b829cafa3888ab7db8	We present a 9-year-old girl with a phenotype similar to a @DISEASE$: short stature, microcephaly, and mild facial dysmorphism, along with dysphagia, retinal degeneration, developmental arrest, and @PHENOTYPICFEATURE$.	false
+46b76487da95cd82cd65e4dba3bc991bc8ea91fe	New phenotype of adult alpha-L-iduronidase deficiency (@DISEASE$ I) masquerading as Friedreich's @PHENOTYPICFEATURE$ with cardiopathy.	false
+53213fe5ae21e568c700a75cd7549d202a6b6086	@DISEASE$ IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with @PHENOTYPICFEATURE$.	false
+227c8ad90753860747b4e4c0eaa67b400bcab19b	A moderately severe @PHENOTYPICFEATURE$ affecting all four limbs, but especially the legs and the right side, developed in a 36-year-old man with @DISEASE$ II (Hunter syndrome) who for 6 months had suffered from pain in the neck radiating into the shoulder.	false
+c1373f0793722d9bbf152bb494108ba66e973fe0	Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, @PHENOTYPICFEATURE$, and clinical and radiologic findings of a mild @DISEASE$.	false
+ff1554952345f52718284f5a6306768c717dcaa9	"@DISEASE$ variants" are a group of bone dysplasias whose @PHENOTYPICFEATURE$ are similar to, but milder than, those of classical metatropic dysplasia.	false
+10dc054390e49c8647ac8c0a4957a5b956e21dbb	"Metatropic dysplasia variants" are a group of bone dysplasias whose @PHENOTYPICFEATURE$ are similar to, but milder than, those of classical @DISEASE$.	false
+53f1b57f682b15a24f98fbd38946be86388fa236	Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (@DISEASE$) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short stature, @PHENOTYPICFEATURE$ and endocrine deficiencies due to resistance to the action of different hormones.	false
+209b57d5f789a70ad03dacb11b7168a36dfc8e21	Heterozygosity for mutations in the fibrillar collagen gene COL11A1 causes @PHENOTYPICFEATURE$ in patients with Stickler syndrome or @DISEASE$.	false
+370e54429a70c97f7bc5cc1b665b059ff16e78d5	A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of Marshall syndrome or Stickler syndrome type 2. Key words: @DISEASE$, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, @PHENOTYPICFEATURE$.	false
+abae900c6ba7b0ab484b68c7a82112e36adb52ac	A molecular genetic analysis helped diagnose the pathology as Stickler syndrome type 1, which manifested phenotype symptoms of @DISEASE$ or Stickler syndrome type 2. Key words: Marshall syndrome, Stickler syndrome, mid-facial dysmorfism, myopia, glaucoma, @PHENOTYPICFEATURE$.	false
+30c15d8af7fae0346736af5198dec61d20c9d033	The @DISEASE$ is an autosomal dominant trait comprising ocular abnormalities, @PHENOTYPICFEATURE$, craniofacial anomalies, and anhidrotic ectodermal dysplasia.	false
+0b8e4369f7a80eb2d6bdf733402dbff52ae6456c	@DISEASE$ is a dominant disorder characterized by craniofacial and skeletal abnormalities, sensorineural hearing loss, myopia, and @PHENOTYPICFEATURE$, and is associated with splicing mutations in COL11A1.	false
+9810cd5f145afedb5baebf5737117bbdb859ef92	@DISEASE$ is a dominant disorder characterized by craniofacial and skeletal abnormalities, @PHENOTYPICFEATURE$, myopia, and cataracts, and is associated with splicing mutations in COL11A1.	false
+2a6024696616f2dd1e9158b9d547db04e7516da6	A 46 year old male with @DISEASE$ treated with all-trans retinoic acid (ATRA), developed fever, bilateral @PHENOTYPICFEATURE$ nodules in his axillary area, lower abdomen and inguinal region.	false
+174de374aca6a4bbfe42d2598b6b3db05b545b27	[A case of @DISEASE$ with @PHENOTYPICFEATURE$ and mammary tumors during hematologic remission (author's transl)].	false
+54c5a3bbe773d45cd2a8cc70a7270728b90fe259	Circadian blood pressure changes and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+50cfd31491de9cab71cc0cf70e9281807ca1dbce	@DISEASE$ with diffuse endocapillary proliferation shows a better prognosis in the patients with normal renal function, but it is a relative risk factor for end-stage renal disease in patients with @PHENOTYPICFEATURE$.	false
+0796b04a6b5cdd6ca55495627cc04e7789e44811	Impact of @PHENOTYPICFEATURE$ on @DISEASE$: comparative ultrastructural study between obese and non-obese patients.	false
+79632535e98d63442d2264d09aef7f27315a011e	Overweight/@PHENOTYPICFEATURE$ revisited as a predictive risk factor in @DISEASE$.	false
+2d3bbb780442b968aa84f1ff23679a9d213df7f3	Clinicopathological influence of @PHENOTYPICFEATURE$ in @DISEASE$: comparative study of 74 patients.	false
+7cdfe6adaead738c5f2229d5f93646c08305e7f5	Overweight and @PHENOTYPICFEATURE$ accelerate the progression of @DISEASE$: prognostic utility of a combination of BMI and histopathological parameters.	false
+42e6d78192b4417e127e98f392739edc7033a400	The purpose of this study is to examine the clinicopathological influence of @PHENOTYPICFEATURE$ in @DISEASE$ (IgAN).	false
+f9abf987bc853d091388851792643483b5cfe7b5	Proteinuria rebound in @DISEASE$ associated with @PHENOTYPICFEATURE$-related glomerulopathy.	false
+c6961e94a360629902341c049d17af6aa1146dd2	In conclusion, in @DISEASE$ patients there are mild @PHENOTYPICFEATURE$ before they develop hypertension, the abnormalities bearing the closest correlation with the decrease in diurnal blood pressure rhythm.	false
+abd2230f8e731d352b370ee33c19c6ea750b0447	[An @DISEASE$ case with highly reduced urinary protein concomitant with reduced @PHENOTYPICFEATURE$].	false
+40160bb45d5262dad804b0ac5b5b78ab4e4f9c6d	We report a rare case of a juxta-adrenal @DISEASE$ that could not be discriminated from an adrenal tumor before surgical resection and was complicated by bilateral @PHENOTYPICFEATURE$.	false
+f8a5d3620d4de84990eaed38c52d05a4a9e7372c	Inflammatory trigeminal @PHENOTYPICFEATURE$ mimicking trigeminal @DISEASE$.	false
+c386061f64f9080eb6c1f9e32ba250ddf583f82d	We report two brothers who presented with @DISEASE$, growth retardation, @PHENOTYPICFEATURE$, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other.	false
+c4127b0da28c7f9ee7c23a1cfbf9d4f5821d82de	@DISEASE$, @PHENOTYPICFEATURE$ and thorax deformities in two brothers: a new recessive syndrome?	false
+6e338749d094d8e2c491d854cd89ab5b42c70400	Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by @DISEASE$, @PHENOTYPICFEATURE$, external ear malformations and intellectual disability.	false
+d8e5e0f5ba60c2cd1f1101b62b4d53c198bb542a	Treacher Collins syndrome (@DISEASE$) is characterized by deafness, @PHENOTYPICFEATURE$ bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle.	false
+25373fc2618946308433dc4cdcbb2d9ba18d71d2	@DISEASE$ (Mandibulofacial dysostosis) is characterized by deafness, @PHENOTYPICFEATURE$ bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle.	false
+5ab0a0d58123c6df486dc287b367f3f64c3d826a	@DISEASE$ is a form of mandibulofacial dysostosis characterized by deafness, @PHENOTYPICFEATURE$ bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of auricle.	false
+995a27ad618c19e5396aa41d2e7ff83578c6cbe8	Nager syndrome is a @DISEASE$ associated with preaxial @PHENOTYPICFEATURE$ and multiple craniofacial anomalies.	false
+0ef05296cf093d71da5481b0d098ba921e137123	We report a female fetus with a previously undescribed form of @DISEASE$ with mesomelic @PHENOTYPICFEATURE$, pre- and post-axial defects of the hands, bilateral renal agenesis, bicornuate uterus, and a single umbilical artery.	false
+77a81ef1a870a7cd3bee6c5ebab8ce9f611a005f	We report a boy who presented with mild @DISEASE$, growth retardation with @PHENOTYPICFEATURE$, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism.	false
+25249bb75e98d81c19a1d976791b115869895f10	Treacher Collins syndrome is an autosomal dominant @DISEASE$ with characteristic hard- and soft-tissue @PHENOTYPICFEATURE$.	false
+c8aa047a51eaddd1bbc5c3577c587b241c4133dc	@DISEASE$ is an autosomal dominant mandibulofacial dysostosis with characteristic hard- and soft-tissue @PHENOTYPICFEATURE$.	false
+8bbcd2f3078f3220b2aeeee493062247b9160bb5	A new syndrome with growth and mental retardation, @DISEASE$, @PHENOTYPICFEATURE$, and cleft palate.	false
+9db23c8ab576d520e238877fed5d12d8cc876dc2	Prevalence of BRCA1/2 large genomic rearrangements in Chinese women with @PHENOTYPICFEATURE$ triple-negative or @DISEASE$.	false
+486dfd9256bac26ed9817fb5985251fb05bd71a8	In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with @DISEASE$ (FBC) and 660 patients with @PHENOTYPICFEATURE$ triple-negative breast cancer (TNBC) who were negative for BRCA1/2 small-range mutations using the multiplex ligation-dependent probe amplification method.	false
+6d6b956fdfa4dbd6b4db829d319f84220ab3dc8e	Its application in testing for genetic mutations causing diseases, such as @DISEASE$, Charcot-Marie-Tooth disease Type 1A, Duchenne/Becker muscular dystrophy and familial colorectal cancer is described, as well as its use in identifying chromosomal changes in some individuals with @PHENOTYPICFEATURE$.	false
+923c878b1bcfab83f338472b51dc90c89e8dbd18	Magnetic resonance imaging showed diffuse hyperintense signal in the bilateral liac bones and bone marrow @PHENOTYPICFEATURE$ and synovitis in the right knee.The diagnosis of @DISEASE$ and LA were concluded by bone marrow aspiration and flow cytometry of the synovial fluid.The patient had poor response to nonsteroidal anti-inflammatory drugs.	false
+f1fa2f166e9a9345681e5f5708fcd3ecb1bf0947	Variables associated with @DISEASE$ in the multivariate model were: female gender, @PHENOTYPICFEATURE$, general health status, cancer, peptic ulcer, tinnitus and vertigo.	false
+9d5827c270acf21e5b7a4c89514146c61672ea2c	Variables associated with @DISEASE$ in the multivariate model were: female gender, obesity, general health status, cancer, peptic ulcer, @PHENOTYPICFEATURE$ and vertigo.	false
+c21264b89bab3c0fdb687474592e335c4764ce49	The heterogeneity of MDD should be considered when examining the effect of @PHENOTYPICFEATURE$ on @DISEASE$.	false
+84e1f1b0dc586d0bdba2d898b41b0d33bb383c32	The heterogeneity of @DISEASE$ should be considered when examining the effect of @PHENOTYPICFEATURE$ on MDD.	false
+3a15531c648f7c49ff853632a794acbb6d7d7e6b	@DISEASE$ is highly prevalent in patients with @PHENOTYPICFEATURE$.	false
+283a093f94cee978f41a0b8817cc90d08fa1b50e	Obesity is a risk factor for @DISEASE$, and there is evidence MDD increases risk of @PHENOTYPICFEATURE$.	false
+7faaa80fc22585cccbc8250686515a52f11f2ed9	Obesity is a risk factor for MDD, and there is evidence @DISEASE$ increases risk of @PHENOTYPICFEATURE$.	false
+981a65a006331b517eee2474637832dce169a39c	Although any associations between obesity and @DISEASE$ in the pooled sample of Blacks were not found, there was a significant interaction between ethnicity and @PHENOTYPICFEATURE$ on MDD.	false
+163c2ed83f0a8e11392a11e7b36783a90b22878f	Although any associations between obesity and MDD in the pooled sample of Blacks were not found, there was a significant interaction between ethnicity and @PHENOTYPICFEATURE$ on @DISEASE$.	false
+b1472e63b11c642c7886c170bd4f4d52f3f47a7a	Although any associations between @PHENOTYPICFEATURE$ and @DISEASE$ in the pooled sample of Blacks were not found, there was a significant interaction between ethnicity and obesity on MDD.	false
+4d0753f53cbc4623811246c1de4357b333fa271a	Although any associations between @PHENOTYPICFEATURE$ and MDD in the pooled sample of Blacks were not found, there was a significant interaction between ethnicity and obesity on @DISEASE$.	false
+807af739448e47e98f7b0508f43d6b94ab53ee57	Sedentarism and @PHENOTYPICFEATURE$ are recognized risk factors for @DISEASE$.	false
+88aff44cde65a913777478732f2e0a8998573c42	However, description of a bidirectional relationship between @PHENOTYPICFEATURE$ and MDD is misleading, as closer examination reveals distinct unidirectional relationships in @DISEASE$ subtypes.	false
+29e0cfd860788076f008760fad9125a356fa9358	However, description of a bidirectional relationship between @PHENOTYPICFEATURE$ and @DISEASE$ is misleading, as closer examination reveals distinct unidirectional relationships in MDD subtypes.	false
+f4e773fe19a3a84a8f8d229f195b6ce181ed9170	Major depressive disorder (@DISEASE$) and obesity are associated within individuals, but little is known about the association between MDD and @PHENOTYPICFEATURE$ within families.	false
+888f54fc1a9402f3f343e1ae2aee4c7b80f831f6	Major depressive disorder (MDD) and obesity are associated within individuals, but little is known about the association between @DISEASE$ and @PHENOTYPICFEATURE$ within families.	false
+bbe09f08c7f698cb1162c50f1904c80a02ab30cd	Major depressive disorder (@DISEASE$) and @PHENOTYPICFEATURE$ are associated within individuals, but little is known about the association between MDD and obesity within families.	false
+90cedf035a6f5d328bb1f0ab19df2e6f5ec0f907	Major depressive disorder (MDD) and @PHENOTYPICFEATURE$ are associated within individuals, but little is known about the association between @DISEASE$ and obesity within families.	false
+87e5efa9c63a7d243595cbae26353cd833baeaf4	Patients who complain bitterly of @PHENOTYPICFEATURE$, however, are often found to have a @DISEASE$.	false
+9ea230b668ff7ac9d786449c4d22cb6b685c741b	There is a bidirectional relationship between affective disorders and @PHENOTYPICFEATURE$, often described as a downward spiral, whereas major depressive disorders (@DISEASE$, and anxiety disorders) significantly increase the risk of developing cardiovascular diseases (CVD); CVD are also associated with increased risk of developing MDD (and anxiety disorders).	false
+418172bb4881667550d01846b092ea97e690092c	There is a bidirectional relationship between affective disorders and @PHENOTYPICFEATURE$, often described as a downward spiral, whereas major depressive disorders (MDD, and anxiety disorders) significantly increase the risk of developing cardiovascular diseases (CVD); CVD are also associated with increased risk of developing @DISEASE$ (and anxiety disorders).	false
+4621e61db9bdae31f4976601deb1b6f136611e1d	Herein, we report @DISEASE$ in six members of an Iranian family with progressive blindness and @PHENOTYPICFEATURE$ since childhood.	false
+fe4313704435d3f3aa7901f304cc044e90d9d1fb	Here is a case of twins with @DISEASE$ emphasizing the importance of ophthalmic examination in children with @PHENOTYPICFEATURE$, for determining a correct diagnosis.	false
+d45da11a8fc27217b198478e9cc203486181d74c	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; @PHENOTYPICFEATURE$, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+671bbefee159d599855b96290a768f2ca8ed70cf	Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) @PHENOTYPICFEATURE$ is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+17109ccb34d6eb59020800f6f9dc9a5f09bd8a26	Review of this disorder and related syndromes suggests that (1) @PHENOTYPICFEATURE$ in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; @DISEASE$; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.	false
+dda08b2bab73015e4f7c4238d0224f682e081b1f	Hypertonic saline (@DISEASE$) suppresses @PHENOTYPICFEATURE$ cell-endothelial interactions by reducing integrin expression.	false
+5790bcab3bca9e33cd7600c72922f1803762e5bf	This review focuses on the multicellular @PHENOTYPICFEATURE$ spheroid (MCTS), particularly how this model can be utilized for @DISEASE$ drug discovery.	false
+511d796c2e5754066744998fb2693ecf15bd5e6f	The vascular heterogeneity assessment service implements the Hemodynamic Tissue Signature (@DISEASE$) method patented in P201431289, which aims to identify habitats within the @PHENOTYPICFEATURE$ with early prognostic capabilities.	false
+16156b756c2eefd44d2e9988ff3996012fafd85a	Targeted high-throughput sequencing (@DISEASE$) of @PHENOTYPICFEATURE$ genomic DNA was performed on all exons or hotspots of 68 genes frequently mutated in B cell lymphomas.	false
+8a9b65a57df11ba56de269949b7542e7a3e8b920	high @PHENOTYPICFEATURE$ stage (@DISEASE$) (OR?=?3.81, 95% CI: 2.72-5.34)	false
+af69b7851a4f3fd52b2da4909bba4d5c5bffed94	Our results suggest that @DISEASE$ provides better brain relaxation than mannitol during elective intracranial @PHENOTYPICFEATURE$ surgery.	false
+b3c6875731bb52f9c23ee32da7fc4a992a4cd0e9	Collectively, these data indicate that a complex three-dimensional culture of the @PHENOTYPICFEATURE$ microenvironment can be adapted for quantitative @DISEASE$ and may improve the disease relevance of assays used for drug screening.	false
+43e1e69d8c4c69df79e486ef527641bd30d2ba26	We highlight two methods that produce uniform size-controlled 3D multicellular @PHENOTYPICFEATURE$ spheroids that are compatible with cancer drug research and @DISEASE$; tumor spheroids formed in ultra-low attachment microplates, or in polyethylene glycol dimethacrylate hydrogel microwell arrays.	false
+8b3fa6c8480148b844beba891b6c56577c4db9aa	We highlight two methods that produce uniform size-controlled 3D multicellular tumor spheroids that are compatible with cancer drug research and @DISEASE$; @PHENOTYPICFEATURE$ spheroids formed in ultra-low attachment microplates, or in polyethylene glycol dimethacrylate hydrogel microwell arrays.	false
+0f8ac46ae71de8be28f2b1185dcecfa3a43fc407	Although homogeneous assay methods and high content imaging approaches to assess @PHENOTYPICFEATURE$ spheroid morphology, growth and viability have been developed, the implementation of 3D models in @DISEASE$ remains challenging due to reasons that we discuss in this review.	false
+95bcc6b5bf8197af1b8ed5bfa2c36131a1f746be	Accurate performance assessment by simulation requires the simulator capable of generating simulation data with all important features of real data, such GC biases in @DISEASE$ data and various complexities in @PHENOTYPICFEATURE$ data.	false
+bf543c87af92507181824baa040b6be520e4391d	@DISEASE$ (MS) and @PHENOTYPICFEATURE$ (GTCS) were recorded in 13 baboons (43%).	false
+fba8493d9b50a5cd2c8e619dc2e0ef1721251609	This is a case of a 34 year-old female who was brought in by Emergency Medical Services (@DISEASE$) with @PHENOTYPICFEATURE$, status post intentional ingestion of multiple drugs.	false
+d4d17e6d21505b5cbd9a83a2599cf311acdad234	Eleven patients (2% of patients) required transfer to hospital by @DISEASE$ for presentations including fracture, dislocation, head injury, chest pain, fall from height, and @PHENOTYPICFEATURE$.	false
+27dd708f95ba3730241d077f6b378b24f2446d35	We report a family with @DISEASE$, ataxia and skeletal muscle atrophy but without @PHENOTYPICFEATURE$ or overt renal disease.	false
+923b8b06a980bce786ed94cea6ec3c9400de7989	Thirteen percent of the @DISEASE$ patients had @PHENOTYPICFEATURE$, as compared with 8% of those arriving via other modes (p < 0.01).	false
+a8d81f211f97a9cfbc2af435e26d12eacb4354c1	Progressive myoclonus epilepsy (PME) without Lafora bodies, or Baltic @DISEASE$, is characterized by stimulus-sensitive myoclonus, @PHENOTYPICFEATURE$, and an irregularly progressive course beginning between 6 and 15 years of age.	false
+f629ba344875f7d7ecaf051f583704caed6d89fa	After adjusting for covariates, @DISEASE$ patients with @PHENOTYPICFEATURE$ were more likely to be triaged to a higher acuity level.	false
+d4cb5df67628ec69db71c9526c5673ccae4cf387	We report an emergency medical services (@DISEASE$) case of self-limited torsade de pointes after administration of droperidol for @PHENOTYPICFEATURE$ in a patient with potential predisposing factors for the development of prolonged QT interval.	false
+a5e21c7a1f8fcca8f406dde05ec39908ffa63491	The late-stage manifestations of @DISEASE$ and TOS are muscle cramping, arthralgia, severe fatigue, and @PHENOTYPICFEATURE$.	false
+7c52cc19513cbf04b6e0aa94f59a700cdd2514ba	@DISEASE$ in Rhodesian Ridgeback (RR) dogs is characterized by myoclonic seizures occurring mainly during relaxation periods, a juvenile age of onset and @PHENOTYPICFEATURE$ in one-third of patients.	false
+754128eaeaba7d4fd025c810b3c1512755534e05	@DISEASE$ (Sutcliffe) is an uncommon form of @PHENOTYPICFEATURE$ which has some unique imaging features.	false
+6806310b68477eab32a50ef1c124b88f7953ba90	A 24-year-old Japanese woman with @DISEASE$ was admitted to our hospital due to the development of proteinuria and pretibial @PHENOTYPICFEATURE$ while on glucocorticoids and an angiotensin-converting-enzyme(ACE) inhibitor.	false
+0acb8b65fe884b844effd75b54c9ccbf7060ea2d	Histologically, there were dystrophic and necrotic nephrosis and @DISEASE$, granular and fatty dystrophy and necroses of the liver, cholecystitis, granular and hyaline dystrophy of the myocardium, hyperemia, hemorrhages, and @PHENOTYPICFEATURE$ of the lungs as well as degenerative changes in the ganglion cells of the brain.	false
+f8084041d39410eec8a0758672f7bd59502178cc	Two female sibs aged 15 and 18 years with @PHENOTYPICFEATURE$, mental retardation and marfanoid habitus who developed focal @DISEASE$ leading to renal failure are described.	false
+45b4e495e7fc9070aa3b697e30175bacbb076b9f	A 6?years old boy with @DISEASE$ presented with dyspnea, orthopnea, pretibial pitting @PHENOTYPICFEATURE$, ascites and fever.	false
+f2f1a7855a482ee3ff378baf8614a1330425bc5e	Although 'interstitial nephritis' was diagnosed by the prosectors who performed his autopsy, we believe glomerulopathy (possibly @DISEASE$) was more likely responsible for his kidney failure and that his death was due to a @PHENOTYPICFEATURE$ or some other complication of uremia.	false
+8bdfbaf8784b3a4fb5cdd3e169a4bad83d2a713d	Because of recurrent focal @DISEASE$ with diuretic-resistant @PHENOTYPICFEATURE$, she underwent transplant nephrectomy, was restarted on hemodialysis, and had her immunosuppression stopped.	false
+583b50c995d5c5930b0eb357225fe2459641b632	@DISEASE$ with multiple benign breast @PHENOTYPICFEATURE$ and successful pregnancy with substitutive therapy.	false
+f1c5c884443249e5a93cdbf8a987a5397fbb023f	Genetically, infantile neuroaxonal dystrophy (7/21), ataxia with oculomotor apraxia type 1 (5/21), neuronal ceroid lipofuscinosis type 5 (2/21), ataxia with oculomotor apraxia type 2 (1/21), @DISEASE$ (1/21), tremor ataxia syndrome accompanying central hypomyelination (1/21), Charlevoix-Saguenay ataxia (1/21), Marinesco-Sj?gren syndrome (1/21), VLDRL-associated @PHENOTYPICFEATURE$ (1/21), and TSEN54-related pontocerebellar hypoplasia (1/21) mutations were detected.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+ec36f0a78b3d6c261e914381401975168fe7f960	Complex @PHENOTYPICFEATURE$ in @DISEASE$: a clinical and genetic discussion.	false
+24efcd2f223e66cf637fa22eee78c4dd94b28280	@DISEASE$ (FFI) is characterized by loss of sleep, oneiric stupor with autonomic/motor @PHENOTYPICFEATURE$ and somato-motor abnormalities (pyramidal signs, myoclonus, dysarthria/dysphagia, ataxia).	false
+45c087bbef584ab034a22fdf7b789b05b1fc5702	@DISEASE$ is a rare congenital malformation that is commonly associated with other lower @PHENOTYPICFEATURE$.	false
+a22c50fe248d2088177ddb115b5a3135f3d5b985	@DISEASE$ neuropathy was observed in 40.5% of 37 arsenicosis patients with 73.3% prevalence for predominant @PHENOTYPICFEATURE$ and 26.7% for sensor-motor.	false
+1bdab38f60ee2e71f372aefcce73da75b2d612a1	@DISEASE$ causes dermatitis, skin cancer, @PHENOTYPICFEATURE$, cirrhosis, angiosarcoma of the liver, lung cancer and possibly lymphatic cancer.	false
+4a771684a7dceec35c18fa468c6a4ec289f71a53	Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and @DISEASE$ share the clinical features of short stature, the same spectrum of @PHENOTYPICFEATURE$, and a similar pattern of craniofacial anomalies.	false
+47d337515f25d25a9d1f00d2fbd74ab132a0d3f2	The majority of the hearing loss is a @PHENOTYPICFEATURE$, with the exception of @DISEASE$ where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.	false
+39e515312d6ab31b877747ea3c036f5a06e117fb	Macrocephaly, growth failure, translucent skin, @PHENOTYPICFEATURE$, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the @DISEASE$17q12 syndrome.	false
+e66a8b32fd5051df5604ba796f378af3271012d4	@DISEASE$ and @PHENOTYPICFEATURE$ after confusion between Lamictal and Lamisil.	false
+3ff7a65ce23da2d87dcc0670303a524e44456320	Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich @PHENOTYPICFEATURE$, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in @DISEASE$.	false
+6727e00643537354a55423e273585f05bc52ac1b	Novel FLNC mutation in a patient with @DISEASE$ in combination with late-onset @PHENOTYPICFEATURE$.	false
+eadca82c35ebe69c7ec0e376b6e8409b4396eaa3	Two cases of Langerhans cell histiocytosis (LCH) expressing as Hand-Schuller-@DISEASE$ with diabetes insipidus, @PHENOTYPICFEATURE$ and empty sella are here reported.	false
+1b71623af70648555d3c80c640667543f34d918c	Lymphocyte function in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b33f968a77ebb9b2c24897339bfe8b3a1631564f	@PHENOTYPICFEATURE$ in @DISEASE$: increasing evidence for dysmorphogenetic defects.	false
+d227b06350439f2bf4fe8ff0d90577d7c2baabc9	Disorganized rhythm and synchrony: early signs of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0c79bb1cd4d6a3f78fd9e3d5b93df5fa34b66807	@PHENOTYPICFEATURE$ and @DISEASE$: some notes on differential diagnosis.	false
+9e5cf43df4f870078dd498571ce04f33ad15411f	@PHENOTYPICFEATURE$ and @DISEASE$ (RS) are both developmental disorders of unknown origin.	false
+14d5e47d5c6ee6d96f7980c864227b1867b65d44	@DISEASE$: qualitative and quantitative differentiation from @PHENOTYPICFEATURE$.	false
+f522655fc1514b8e8ae80ff00cb70064fa82cfd4	@PHENOTYPICFEATURE$ and @DISEASE$: behavioural investigations and differential diagnosis.	false
+dda27c8275b34a5327ff694eb8372e20d2be17b5	Evolving role of MeCP2 in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d2c0b16923d8efe13fedc3f441698dd54d0c0b1c	@DISEASE$: a Rosetta stone for understanding the molecular pathogenesis of @PHENOTYPICFEATURE$.	false
+e054d017966001740d9303efafd7ad8829a878ac	@DISEASE$ and testicular @PHENOTYPICFEATURE$.	false
+4c6c134d8ca4cf7f6079462ceeb03ef59b94047a	@PHENOTYPICFEATURE$ and disorders of pubertal development such as hypogonadism are common in @DISEASE$ (PWS).	false
+e9fc70e14e03cf71aed237e1f3b41ab95c964197	Partial @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+9682c238173a30d38e94cd312a8571670314679f	However, our patient did not have the severe hypotonia, early failure to thrive, or @PHENOTYPICFEATURE$ seen in classical @DISEASE$.	false
+a6fa7c24cdeae46da601bb365c2b539ccc1b87bb	@DISEASE$ is a neurogenetic disorder, with characteristics such as obesity, short stature, @PHENOTYPICFEATURE$, intellectual deficiencies and deviant social behaviour.	false
+93577c423f72ffb1baa870db490e9368f0b85c8a	@DISEASE$ (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, @PHENOTYPICFEATURE$, and hypogonadotropic hypogonadism.	false
+144fc12bc10752e1859ae77a6cf796f78d68a00a	Although these brothers are similar to individuals with @DISEASE$, their unusual hand @PHENOTYPICFEATURE$, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.	false
+a00915c88fff0bdad769dc613a9eeb11b5a54ff6	To identify novel, @PHENOTYPICFEATURE$-specific target antigens for vaccine development, we studied immune responses to P.polypeptide, an M(r) 110,000 integral melanosomal membrane protein associated with the @DISEASE$.	false
+3d59fae062a085912972b2736b9b907a7ae55533	The availability of recombinant human growth hormone (rGH) for treatment of growth disorders has provided an unlimited supply for replacement in patients with growth hormone insufficiency but also for short stature due to Turner syndrome, @PHENOTYPICFEATURE$, @DISEASE$, small for gestational age and idiopathic short stature.	false
+4e65408e2328a41e46e0f8eddf751cdafa72ef81	Up to August 2015, a total of 186 patients (mean age 10.2?years, 57.5?% males) were enrolled :156 [84?%] had growth hormone deficiency, 12 [6.5?%] were born small for gestational age, seven [3.8?%] had @DISEASE$, one [0.5?%] had Turner syndrome and one [0.5?%] had chronic @PHENOTYPICFEATURE$; seven [3.8?%] patients had other indication profiles.	false
+85417a64e7b9454337ed507b6d73160e14186146	@DISEASE$ (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, @PHENOTYPICFEATURE$ and facial myokymia.	false
+9d92633671805e6e580ca8916a9052fe9fbe0aa5	The present patients and the previously reported male patients from four families (clinical OFD1; @DISEASE$ with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or @PHENOTYPICFEATURE$ and/or cerebellar vermis and posterior fossa abnormalities).	false
+c5914891df0f3853b0b63a06c07123820b95da89	Over time, pathogenic variants in OFD1 were found to be associated with X-linked @PHENOTYPICFEATURE$, Joubert syndrome type 10 (JBTS10), @DISEASE$ (SGBS2), and retinitis pigmentosa.	false
+23923367f983ecd153c1e1e6acf3c889f8953a87	A 25-year-old Canadian male with a history of 3-methylglutaconyl-coenzyme-A hydratase deficiency, also known as @DISEASE$, a very rare inborn error of metabolism, presented with respiratory distress, nausea, @PHENOTYPICFEATURE$ and signs of multisystem organ failure due to a suspected underlying infectious process.	false
+0925939b7210c16cbec22a0f32840c68459142d7	We report one of the few documented cases of congenital systemic @DISEASE$, presenting with @PHENOTYPICFEATURE$, jaundice, hepatosplenomegaly, ascites, pancytopenia, and delayed skin involvement.	false
+30a539e7856d42a8a1709dfa5add030477ed606f	An infant with extensive cutaneous nodular @DISEASE$ and @PHENOTYPICFEATURE$.	false
+5c868cc64c131652385057ef3e117664b125b43e	Here we investigated the mechanisms underlying motor hyperactivity in patients with @PHENOTYPICFEATURE$, such as autism, and @DISEASE$ (ADHD).	false
+04a8f10178323c8f46b40b817c462a6b836bfb78	Here we investigated the mechanisms underlying motor hyperactivity in patients with pervasive developmental disorders, such as @PHENOTYPICFEATURE$, and @DISEASE$ (ADHD).	false
+ef90c7307dd0fad2a4ea908bbe87703b1a2c3e64	@DISEASE$, @PHENOTYPICFEATURE$ and polymicrogyria associated with trisomy 18 mosaicism.	false
+e518a48d71cb1381fbd63975d94bf39997d04060	Secondary outcomes were the following specific psychiatric disorders: psychotic, mood, anxiety, eating, personality, and @PHENOTYPICFEATURE$; substance misuse; @DISEASE$; autism spectrum disorders; and intellectual disability.	false
+9c6c9cf954ca73bb14f77f2be468fa674cd66a87	Secondary outcomes were the following specific psychiatric disorders: psychotic, mood, anxiety, eating, personality, and behavioral disorders; substance misuse; @DISEASE$; @PHENOTYPICFEATURE$ spectrum disorders; and intellectual disability.	false
+c3d844e018ee64d3edccdae5921f0e87d771f663	[Retrospective analysis of @PHENOTYPICFEATURE$ patients initially diagnosed with @DISEASE$].	false
+7240b0be27f8e4d19d09aaea112b6995dc9f3b78	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), @PHENOTYPICFEATURE$, childhood onset schizophrenia and @DISEASE$.	false
+198420906c95cd33f2211628c506dcda2ccbf768	Loss-of-function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), autism, @PHENOTYPICFEATURE$ schizophrenia and @DISEASE$.	false
+457a68c174280e2a6c3458eb7080aa586e2832ac	Neuropsychiatric disorders of childhood include conditions such as @PHENOTYPICFEATURE$, pervasive developmental disorder and @DISEASE$.	false
+d6fe84b4d30739a3b661fe2e5a6f36d780a32d9a	Neuropsychiatric disorders of childhood include conditions such as autism, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+5b7946ccc9a2ab6d956602534664796905fae563	Overlapping symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (@PHENOTYPICFEATURE$ spectrum disorders/@DISEASE$).	false
+11f1e98bc9d4e99b1c17223769d709c691f55bd7	Overlapping symptoms included @PHENOTYPICFEATURE$, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum disorders/@DISEASE$).	false
+fc66ad51e46adce11bb8b547461dd92700cd64d6	Pt1 had @DISEASE$ and pt3 had @PHENOTYPICFEATURE$ not otherwise specified.	false
+1679fb89a7eaa2404394324212a9bcb3c68c78c2	MPS III presents with progressive mental deterioration, @PHENOTYPICFEATURE$ and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/speech delay, @DISEASE$ or autism.	false
+2b1388a6bd45c41281aae494a86ba575553b8517	MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/@PHENOTYPICFEATURE$, @DISEASE$ or autism.	false
+a4c49452b563108a9a05042455af801a0ff71302	MPS III presents with progressive mental deterioration, speech delay and behavioural problems with subtle somatic features, which can often lead to misdiagnosis with idiopathic developmental/speech delay, @DISEASE$ or @PHENOTYPICFEATURE$.	false
+87cb1f6518d1b6a0856b5a27ebf98c325b84f0ea	@PHENOTYPICFEATURE$ with @DISEASE$-like symptoms and mismatch negativity.	false
+63a47c5dfd8eae57e00aec5514b91ab60702ba21	Whole-exome sequencing identifies a novel missense mutation in EDAR causing @DISEASE$ with bilateral amastia and @PHENOTYPICFEATURE$.	false
+415e3c24028a9f5f99a1bc833f12d044a7421ae8	We present a Libyan boy with hematologic and @PHENOTYPICFEATURE$ with typical dermatologic manifestations of @DISEASE$.	false
+6de3a6cd374d9e53bf68cd255deacf7f0348275e	We report on a family in which one member is affected by @DISEASE$ (DC), who had two cousins who died at 44 months and 36 months, respectively, with aplastic anemia and @PHENOTYPICFEATURE$.	false
+8b673206f686c366f2d339fb76c172d9868b717d	Patients affected by some genetic skin defects, for example, @DISEASE$ or @PHENOTYPICFEATURE$, may present spontaneous or induced chromosomal fragility.	false
+f37eeec4f09ff75b5ff188ae7368825e769ed2ce	109 patients with metabolic syndrome (@DISEASE$, arterial @PHENOTYPICFEATURE$, abdominal obesity and dyslipidemia) were divided into 2 groups: with and without IHD.	false
+ecec0ad4dbe5413627fb5fc4ba0e41942e4f4e2e	Increasing evidence has emerged suggesting that conditions associated with @DISEASE$, such as insulin resistance, hyperinsulinemia and @PHENOTYPICFEATURE$, may also play a significant role in regulating 'novel' cardiovascular risk factors.	false
+4ad13c484fc47d590c6e7847af0b2b11b5d66e84	Increasing evidence has emerged suggesting that conditions associated with @DISEASE$, such as insulin resistance, @PHENOTYPICFEATURE$ and hyperglycemia, may also play a significant role in regulating 'novel' cardiovascular risk factors.	false
+92bc6c0159f7b1ccabb2e49815fb75dcf1eb5269	Physical activity (PA) reduces the risk for a number of chronic diseases including heart disease, @PHENOTYPICFEATURE$, hyperlipidemia, and @DISEASE$. However, most Americans do not meet expert recommendations for exercise, and minorities and low-income persons are the most inactive.	false
+de3f11f676824493d2ab286f2923106cb800de3b	Controls (n?=?122,784) were matched by age, gender, @DISEASE$, and @PHENOTYPICFEATURE$ status (1:4 ratios).	false
+fc412220ccc62dcb23b5b4a0a3159b5588be55cf	Variables analyzed included age, glucose levels, @DISEASE$, @PHENOTYPICFEATURE$, hyperlipidemia, height, weight, sex, smoking, preexisting neurologic conditions, surgical history, lower extremity edema, and neurologic examination findings.	false
+5f81872d7df3beb9893e7a325f67eab763c3aa8c	The resolution rates for all patients were 74%, 61%, 79%, and 90% for hypertension, @PHENOTYPICFEATURE$, @DISEASE$ and obstructive sleep apnea, respectively.	false
+0d0181f20e3fd20a43012f28bf8a8dde13a76dec	Newborns with IUGR are at increased risk to develop a metabolic syndrome later in life, namely obesity, arterial hypertension, @PHENOTYPICFEATURE$, cardiovascular disease, impaired glucose tolerance, or @DISEASE$. This association is the result of the adaptational changes of the fetal endocrine-metabolic mechanisms to the impaired intrauterine milieu to assure survival in the short term.	false
+d0342cba0b17a8461c526e5f93bb289744c1c054	Newborns with IUGR are at increased risk to develop a metabolic syndrome later in life, namely obesity, arterial @PHENOTYPICFEATURE$, hypercholesterolemia, cardiovascular disease, impaired glucose tolerance, or @DISEASE$. This association is the result of the adaptational changes of the fetal endocrine-metabolic mechanisms to the impaired intrauterine milieu to assure survival in the short term.	false
+706a802485f629f3e722886ed55aa38cfd6b80f6	The result implies that the genes studied are unlikely to be a cause of @DISEASE$-linked @PHENOTYPICFEATURE$.	false
+f69aa088a33c878ec3e77b83ce1d74b654f2557f	BoNT's use for autonomic conditions related to neurology includes various forms of bladder dysfunction (detrusor sphincter dyssynergia, idiopathic detrusor overactivity, neurogenic detrusor overactivity, urinary retention and @DISEASE$), pelvic floor disorders (pelvic floor spasms and anal fissures), @PHENOTYPICFEATURE$ (axillary, palmar, and plantar hyperhidrosis, diffuse sweating, Frey's syndrome) and hypersalivation (hypersalivation in Parkinsonian syndromes, motor neuron disease, neuroleptic use, and cerebral palsy).	false
+053e3710b07b7405091397f6d9547412ed9023c1	BoNT's use for autonomic conditions related to neurology includes various forms of bladder dysfunction (detrusor sphincter dyssynergia, idiopathic detrusor overactivity, neurogenic detrusor overactivity, urinary retention and @DISEASE$), pelvic floor disorders (pelvic floor spasms and anal fissures), hyperhidrosis (axillary, palmar, and plantar @PHENOTYPICFEATURE$, diffuse sweating, Frey's syndrome) and hypersalivation (hypersalivation in Parkinsonian syndromes, motor neuron disease, neuroleptic use, and cerebral palsy).	false
+1474588ecc29b9518b7f6b89687478e01870e36f	In addition to the classic histopathology of DD, we noted multiple, @DISEASE$-like structures in the comedonal type, marked compact @PHENOTYPICFEATURE$ in the cornifying type, and marked papillomatosis in the hypertrophic type.	false
+790600c72cd9f42846823437cb3f0b4fd7d45cef	To describe the features of @DISEASE$ on computed tomography (CT) and to determine the possibility of detecting tumor torsion in this kind of @PHENOTYPICFEATURE$.	false
+492e292c2df0de19ca7bce12da783c13cea5451b	To describe the features of @DISEASE$ on computed tomography (CT) and to determine the possibility of detecting @PHENOTYPICFEATURE$ torsion in this kind of tumor.	false
+863e61856b1ecbbca63a6b156c7f14f04cc73cf9	Therefore, @DISEASE$ typically presents as solid or predominant solid masses with clear boundaries; the parenchyma of the @PHENOTYPICFEATURE$ exhibits isodensity on CT scans, slight hypointensity or isointensity on MRI and mild enhancement following contrast-medium injection.	false
+88c9e4d2f6b7c7120df792ed4fed66dc37970e86	We report the case of a 49-year-old woman with an ovarian steroid cell @PHENOTYPICFEATURE$ concurrent with an @DISEASE$, which was an incidental finding, remaining the patient asymptomatic before the diagnosis.	false
+a86b392778cbb9d5aa46c833ea979b1e6d8b2059	The sonographic and histologic findings observed in 11 cases of @DISEASE$ were compared, and an attempt was made to find a correlation between each histologic type of the @PHENOTYPICFEATURE$ (pure thecoma, predominantly fibrous fibrothecoma, mixed fibrothecoma) and its sonographic appearance.	false
+dd185e1c4130d89093c02f331a271b9f515e1519	The prevalence of @DISEASE$ tumours is very rare and is reported to be about 1.2% of all ovarian @PHENOTYPICFEATURE$.	false
+cb83a2a5895e391dd7bfbe2b364a38cbbef219a7	The prevalence of @DISEASE$ @PHENOTYPICFEATURE$ is very rare and is reported to be about 1.2% of all ovarian tumours.	false
+d099abd2a0bab5d4060c3a8da3ab8214df8bf628	Idiopathic BOOP has been discussed in the context of @DISEASE$, and interstitial @PHENOTYPICFEATURE$.	false
+2d9c20c87da77de9fa5c18e35f7fd8c11881e952	Both patients differed from the usual phenotype of non-Wilsonian low @DISEASE$ movement disorder as they had @PHENOTYPICFEATURE$ disorders with an onset in the first decade; one patient lacked significant intellectual impairment.	false
+4eafd80e773b79438a76522a7f236a2eda7f43b2	@DISEASE$ deficiency in humans is a rare cause of myeloneuropathy that usually presents with a spastic @PHENOTYPICFEATURE$, hyperreflexia, and distal sensory loss similar to that seen in patients with subacute combined degeneration.	false
+aa9d0b5c0b4a0d2e8a93873d88522d766fcd82ff	Here, we describe two patients with @PHENOTYPICFEATURE$ and sensory symptoms in which a diagnosis of @DISEASE$ deficiency myelopathy was made.	false
+ece99570fa416d383cecb70e53040e7347b786ec	A 22-year-old woman who had an IUD (@DISEASE$ T), inserted 7 years ago presented with complaint of lower @PHENOTYPICFEATURE$.	false
+61e4006e2b4d0530603ffef22b64eae749a012e7	Formation of etheno-DNA adducts in the liver was investigated in Long Evans cinnamon (LEC) rats, a Long Evans strain with hereditary abnormal @DISEASE$ metabolism, which develop spontaneous @PHENOTYPICFEATURE$ and later hepatocellular carcinoma.	false
+3d747d2f4b01849737547a317f59f3a61bb0834f	VacA was more prevalent in lungs of patients with collagen vascular disease-associated interstitial @PHENOTYPICFEATURE$ than in those of patients with idiopathic pulmonary fibrosis, nonspecific interstitial pneumonia and @DISEASE$.	false
+762d4fd91f83fa79dd537c6791f6d5e12b788552	We found that markers of lipid peroxidation are elevated in blood in Alzheimer's disease and in mild @PHENOTYPICFEATURE$, @DISEASE$ metabolism is dysregulated and total antioxidant capacity is decreased.	false
+60346405110900a603c68048ffbd46edb15f1b2a	infection, hoof lesions, @DISEASE$ deficiency, contagious ecthyma, verminous @PHENOTYPICFEATURE$, hepatic lipidosis suggestive of negative energy balance, and bacterial bronchopneumonia due to Trueperella pyogenes and Bibersteinia trehalosi .	false
+5c2e37247373311e6d897f8b93afc7e34e00bd3a	Of those, 23 were diagnosed with BO and 21 presented other noninfectious pulmonary pathologies, such as @DISEASE$, diffuse alveolar damage, interstitial @PHENOTYPICFEATURE$, and nonspecific interstitial fibrosis.	false
+2b56193da9b959e2637f6a0acab2f210185a8bd5	@DISEASE$ is a common cause of hearing deficits and @PHENOTYPICFEATURE$ in children.	false
+e54d6aa4b867f89bffee2558a8797cdf0f610fa6	@DISEASE$ occurs in 0.7% of live births with 15-20% of infected children developing long-term disability including hearing loss and @PHENOTYPICFEATURE$.	false
+d63ddffce1d8a6646f6ee969311bb81e63de6634	Plurihormonal hyperactivity may be diagnosed in a patient with @DISEASE$ when more than one @PHENOTYPICFEATURE$ is clinically active (e.g., ACTH and PRL) or in cases with at least one composite tumor (e.g., GH and PRL), to complicate the clinical scenario.	false
+3d801adf57ccc6c4ce1dfa4a927b930ec705972d	Plurihormonal hyperactivity may be diagnosed in a patient with @DISEASE$ when more than one tumor is clinically active (e.g., ACTH and PRL) or in cases with at least one composite @PHENOTYPICFEATURE$ (e.g., GH and PRL), to complicate the clinical scenario.	false
+f4d5f11fd0cfa3719513619e13e4fabd6fcc7c7d	Thus, the lack of expression of TGF-beta 1 in @DISEASE$-U @PHENOTYPICFEATURE$ may be related to the acquisition of autonomous growth.	false
+7609769f9637f1669b086e157bad06a8801eb804	Intra-arterial infusion chemotherapy combined with @DISEASE$ may also be valuable in treating metastatic liver tumors and recurrent lesions in the regional lymph nodes such as supraclavicular @PHENOTYPICFEATURE$.	false
+475e3432e8b465dc301a2a034e7b3a8bf7baa9fe	In contrast, complete remission was achieved in all ER(+) @PHENOTYPICFEATURE$ in the group treated with TAM for 2 weeks and then with @DISEASE$ for another 2 weeks.	false
+87c29ac38f0d7bbd77b97c0281e430c497250ebb	After treatment with @DISEASE$ @PHENOTYPICFEATURE$ was again significantly more frequent in all treated groups, however, days of peak sensitivity were not detected.	false
+b69102ddb7c68d797d8a46832484913fd863e1cd	A decrease in the rate of @PHENOTYPICFEATURE$ development also was observed but only in mice treated with @DISEASE$ in situ.	false
+356eceeb9ae90322d5329f84b0ff9af5d7f47f87	The spectrum of @DISEASE$ @PHENOTYPICFEATURE$ mutations was distinct from that observed in Mlh1(-/-);Apc(1638N) mice, implicating the first potential role for MLH1/PMS1 in tumor suppression.	false
+901512fb2b3cda06c47756c977bfa04111843b40	The spectrum of @DISEASE$ tumor mutations was distinct from that observed in Mlh1(-/-);Apc(1638N) mice, implicating the first potential role for MLH1/PMS1 in @PHENOTYPICFEATURE$ suppression.	false
+209788dff4b600f7af221d098d071d7b9027588c	Specific challenges associated with @DISEASE$ include high surgical failure rates, enforcing second-look surgery in certain cases, and difficult preoperative neuroradiological imaging evaluation, with an overall sensitivity of only 25% for magnetic resonance imaging to detect distinct multiple @PHENOTYPICFEATURE$.	false
+3bd4b2fa865b36f71191b055bfc354a4bc4179de	Neither 0.02% nor 0.5% dietary apigenin reduced @DISEASE$-dependent tumor incidence or latency, and @PHENOTYPICFEATURE$ multiplicity increased significantly in response to 0.5% apigenin.	false
+4051cc87435d7ffd542ae65094f3fb52b13cec10	Neither 0.02% nor 0.5% dietary apigenin reduced @DISEASE$-dependent @PHENOTYPICFEATURE$ incidence or latency, and tumor multiplicity increased significantly in response to 0.5% apigenin.	false
+fd403cfd1b755c165f68f24d585f699e9c7b4f18	Furthermore, @DISEASE$ attenuated @PHENOTYPICFEATURE$ necrosis factor-alpha-induced CCL2 expression through down-regulation of p38 MAPK, but not that of ERK1/2 or JNK.	false
+018ce1021be04a4f368d5fb5b350fbe866244d79	Fibroblast growth factor receptor mutations cause some of the main @PHENOTYPICFEATURE$ skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, @DISEASE$, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome.	false
+2bfe63ad33c7ab8ebe1365861993d3c1eece57a1	The patients with @DISEASE$17 gain @PHENOTYPICFEATURE$ had an intermediate survival between HER2-negative and HER2-positive patients.	false
+6e86f6d1871e89efd1febd4a4df05465cd461068	Of the 216 @PHENOTYPICFEATURE$ specimens scored as 2+, 26 (12%) had a high level of HER-2/neu gene amplification, 54 (25%) demonstrated duplication of HER2, 4 (2%) deleted HER-2/neu and/or CEP17, and 123 (57%) had no apparent HER-2/neu anomaly, no apparent @DISEASE$17 anomaly, nor apparent single gain (aneusomy) of CEP17.	false
+f55e280803cba328f4af396954e81cd952f89f05	By comparison to HER2-negative and HER2-positive patients, survival in luminal B patients with @DISEASE$17 gain @PHENOTYPICFEATURE$ also fell in between.	false
+6388cf4f3ae0c5b558cb1c7f0e88bb9642440929	Characterization of 11p14-p12 deletion in @DISEASE$ by array CGH for identifying genes contributing to mental retardation and @PHENOTYPICFEATURE$.	false
+50334e9211e3cec32ee7f43822b58bcf518990a6	This girl has the multiple congenital anomalies that defines the @DISEASE$ (aniridia, @PHENOTYPICFEATURE$ and severe mental retardation).	false
+53c57fb8111f67bbf0413dd763e2d842cc21cf6a	While the Wilms tumor/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and @PHENOTYPICFEATURE$ in @DISEASE$ remains unknown.	false
+14cb8c1f1450784cafdd3fd074d4bf5fbd6d3314	We present a case of treatable young @PHENOTYPICFEATURE$ in a 29 year old female, who was diagnosed with renovascular hypertension due to @DISEASE$ of the left renal artery.	false
+faa3d7b187911f8ef303659c1e7d09c496e48ce4	A 23-year-old woman was referred to our hospital for an interventional procedure for chronic total occlusion of the right renal artery, probably due to @DISEASE$ (FMD), and for control of renal vascular @PHENOTYPICFEATURE$.	false
+6e23f8c5a67f9fe597c1252030dd0fded4e97051	Complete surgical cure of renal @PHENOTYPICFEATURE$ is accomplished more frequently in patients with @DISEASE$ than in those atherosclerosis.	false
+d19ebefcfc462b97a7f6fa36117fd3d73da7efad	Renal @DISEASE$ (FMD) is typically diagnosed in young @PHENOTYPICFEATURE$ women.	false
+7383dfd73a1e95baca6251109328e63bf1974568	Among the conditions associated with MSK are Beckwith-Wiedemann syndrome/hemihyperplasia (13%), horseshoe kidney, congenital small kidney, @PHENOTYPICFEATURE$, Caroli syndrome, congenital hepatic fibrosis, Ehlers-Danlos syndrome, Marfan syndrome, immotile cilia syndrome, and arterial @DISEASE$.	false
+7be1f859af8973ac54acef2d3abd281994772791	@DISEASE$ causing renal artery stenosis, though a rare cause of renovascular hypertension, is essential to be considered in young @PHENOTYPICFEATURE$, even in the absence of family history of hypertension.	false
+ea311c12f9f39086fddae1bdc9363b0a7e22750a	@DISEASE$ with renal @PHENOTYPICFEATURE$, thalassaemia major with secondary haemosiderosis, long-overlooked and untreated athyroidism each caused one case of dilative specific cardiac muscle disease.	false
+bae41b5d8deec7cef4606580e22135d62a686a1a	A total of 3,415 (5.14%) had depression, 670 (1.0%) had rheumatoid arthritis, 640 (0.96%) had anxiety, 545 (0.82%) had a migraine disorder, 440 (0.66%) used steroids, 385 (0.58%) had malignant hypertension, 280 (0.42%) had systemic lupus erythematosus, 250 (0.38%) had cocaine abuse, 215 (0.32%) had @PHENOTYPICFEATURE$ heart or renal disease, 130 (0.19%) had coronary spasm, 105 (0.16%) had @DISEASE$, 85 (0.13%) had Crohn's disease, 75 (0.11%) had celiac disease, 60 (0.09%) had adult autosomal dominant polycystic kidney disease, 60 (0.09%) had hormone replacement therapy, 55 (0.08%) had sarcoidosis, 55 (0.08%) had amphetamine abuse, 15 (0.02%) had granulomatosis polyangiitis, 10 (0.02%) had ?1-antitrypsin deficiency, 10 (0.02%) had Marfan syndrome, 10 (0.02%) had Ehlers-Danlos syndrome, 10 (0.02%) had Kawasaki disease, 10 (0.02%) had polyarteritis nodosa, and 5 (0.01%) had multiparity.	false
+624512f38a69b89c03ea386ac6587f13082c8428	Atherosclerosis and @DISEASE$ are the commonest types of stenosis associated with renal vascular @PHENOTYPICFEATURE$, with the former accounting for 70-80% of all cases and the latter accounting for 10% of the incidence.	false
+f4f6834d07fa5e12833e374768376ea663c3e9b4	The results of applying a mechanism of ethionine-induced embryonic gene derepressions to explain similar features found in hereditary @DISEASE$ have been extended to a well defined cancer @PHENOTYPICFEATURE$.	false
+e30e18105a57d59e9e7e14a708a86b182b6e7bf2	@DISEASE$ is a benign hyperkeratotic skin @PHENOTYPICFEATURE$ due to a clonal proliferation of keratinocytes and is characterised by a telltale annular threadlike configuration along the border of a skin-colored to erythematous papule that can expand centrifugally.	false
+4c6499603df7659af301604edee565042973a6cc	Apart from fragile X syndrome and @DISEASE$ (with in general mild to moderate ID), the other syndrome groups contained one or more subjects with visual impairment or @PHENOTYPICFEATURE$.	false
+010a4b3c5b29f4bc6202d7e22a35566c76c0bb9a	@DISEASE$-@PHENOTYPICFEATURE$.	false
+eb50d2f19fe8ff50d14cae593cd3ff40dfa6a4e2	[@PHENOTYPICFEATURE$-@DISEASE$-mental retardation, Filippi type].	false
+2deb18360d0dc3e1f1329cd6417ea9fc0b206ae2	[Syndactyly-@DISEASE$-@PHENOTYPICFEATURE$, Filippi type].	false
+b2763008e06cb6f514a718dd6fc886f8bc5112e4	We identified nine additional MTFMT patients from eight families who were affected with Leigh encephalopathy or white matter disease, @DISEASE$, mental retardation, ataxia, and @PHENOTYPICFEATURE$.	false
+4cba3ace550eff0c8f9fbddebd0a92660f6f01df	We identified nine additional MTFMT patients from eight families who were affected with Leigh encephalopathy or white matter disease, @DISEASE$, @PHENOTYPICFEATURE$, ataxia, and muscular hypotonia.	false
+8935d55cf9742cdee8ce88f182c9639205e45062	We identified nine additional MTFMT patients from eight families who were affected with Leigh encephalopathy or white matter disease, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and muscular hypotonia.	false
+8a237894d6ba855da4a2d56cde258811ac300ae4	We report on a mentally retarded boy with @PHENOTYPICFEATURE$, @DISEASE$, ataxia, and developmental delay.	false
+445ef23994ddcce31d4786f69b3761f891e8cca4	We report on a mentally retarded boy with epileptic seizures, @DISEASE$, @PHENOTYPICFEATURE$, and developmental delay.	false
+7874f2c4c6d230ebda32bd58e62588982505f54d	We report on a @PHENOTYPICFEATURE$ boy with epileptic seizures, @DISEASE$, ataxia, and developmental delay.	false
+456abbbb5b68412918ee794af9c97d1adea44626	How many entities exist for the spectrum of disorders associated with brachydactyly, @PHENOTYPICFEATURE$, short stature, @DISEASE$, and intellectual disability?	false
+345c968eaccc6596a26ac2a58956b0966c83ffd1	How many entities exist for the spectrum of disorders associated with @PHENOTYPICFEATURE$, syndactyly, short stature, @DISEASE$, and intellectual disability?	false
+f024de1c43925f10b0700f37b1f849d2594a1fb9	How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, @DISEASE$, and @PHENOTYPICFEATURE$?	false
+2b784fb0909a9e99b2917d17e3a7d7536cb49e0b	Microdeletions in the 1q44 region encompassing HNRNPU have been described in patients with intellectual disability (ID) and other clinical features, such as seizures, @PHENOTYPICFEATURE$ (CCA), and @DISEASE$.	false
+2353c1685a454ffcf64ea078f4b9cdc9ba1b2f43	Microdeletions in the 1q44 region encompassing HNRNPU have been described in patients with intellectual disability (ID) and other clinical features, such as @PHENOTYPICFEATURE$, corpus callosum abnormalities (CCA), and @DISEASE$.	false
+5e3bc6961de37d957d1b4000d83da88c228eae66	Microdeletions in the 1q44 region encompassing HNRNPU have been described in patients with @PHENOTYPICFEATURE$ (ID) and other clinical features, such as seizures, corpus callosum abnormalities (CCA), and @DISEASE$.	false
+e95d856b0b506d62b0f0bcb866e697b087f69e6a	CNS involvement consists of seizures, @PHENOTYPICFEATURE$, hemiparesis, spasticity, @DISEASE$, cerebellar ataxia, and coma.	false
+9ddccdcad10363938b1fa45a72a1e6eb32d32ee0	CNS involvement consists of seizures, mental retardation, hemiparesis, @PHENOTYPICFEATURE$, @DISEASE$, cerebellar ataxia, and coma.	false
+89219c60cedce2ae8cd9d4c0ab11073598091d0a	CNS involvement consists of seizures, mental retardation, hemiparesis, spasticity, @DISEASE$, @PHENOTYPICFEATURE$, and coma.	false
+f962ec577248bcf9bbed64e405e56124dd003680	CNS involvement consists of @PHENOTYPICFEATURE$, mental retardation, hemiparesis, spasticity, @DISEASE$, cerebellar ataxia, and coma.	false
+70409bc994c30f549e86f9c9a0c8be17b565c201	This syndrome includes intrauterine growth retardation, @DISEASE$, mental retardation, @PHENOTYPICFEATURE$, and pancytopenia.	false
+7baaa5d3b9acfcf7c449e3c2ac1678ccf87d35fb	This syndrome includes intrauterine growth retardation, @DISEASE$, @PHENOTYPICFEATURE$, cerebellar malformation, and pancytopenia.	false
+fef962dc406c9dee5e423a76012960a2d13d2599	The combination of @DISEASE$, pyramidal signs, abnormal corpus callosum, and @PHENOTYPICFEATURE$ presents a diagnostic challenge.	false
+331d2b374472dfdb01309e0fbe6a8bb7739d369f	The combination of @DISEASE$, pyramidal signs, @PHENOTYPICFEATURE$, and intellectual disability presents a diagnostic challenge.	false
+13b9e6bba4ac73456cc71a5508bde178970a471d	Neurological features of perisylvian PMG include developmental delay/@PHENOTYPICFEATURE$, seizures, @DISEASE$, spasticity and oromotor dysfunction.	false
+af60d2faf4220a47a2cf3b8c348a48284bb954a2	Neurological features of perisylvian PMG include developmental delay/mental retardation, @PHENOTYPICFEATURE$, @DISEASE$, spasticity and oromotor dysfunction.	false
+cef2883cad4bd8bfb2e07189654dcae116263095	Neurological features of perisylvian PMG include developmental delay/mental retardation, seizures, @DISEASE$, @PHENOTYPICFEATURE$ and oromotor dysfunction.	false
+bc366da9685984299d280bcf14212e57766995b7	Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, @DISEASE$ and @PHENOTYPICFEATURE$ in three siblings.	false
+86171a3eedfb03a07b236f605770fd58b5c9d664	@PHENOTYPICFEATURE$, infantile spasms, spastic quadriplegia, @DISEASE$ and severe mental retardation in three siblings.	false
+1da1daf4b456aa69eef9e4d100d4416232a5eef7	The @DISEASE$ is characterized by mental handicap, @PHENOTYPICFEATURE$ and expression of a fragile site at Xq27.3.	false
+e2a1f8b6f582f316332a26418d834672ef027000	Among them, one case showed a pattern of expression of the FMR1 protein (FMRP) concordant with a @DISEASE$ case with an intermediate allele/full @PHENOTYPICFEATURE$ mosaicism, although it was not detected by Southern blot analysis.	false
+e0f2d720693a52e33a2de4c4929ecd30205534e5	@DISEASE$ characterized by intellectual disability (ID), @PHENOTYPICFEATURE$, and postpubertal macroorchidism is the most common monogenic cause of ID.	false
+2989817ffd310c4fc7c29b0597c8c512f5dae069	Apart from @DISEASE$ and Prader-Willi syndrome (with in general mild to moderate ID), the other syndrome groups contained one or more subjects with visual impairment or @PHENOTYPICFEATURE$.	false
+8241173c4aeaaab59411fa8c519c45113437ab2e	Specific model conditions were presented that illustrated issues involved in the use of family history information in pediatric settings, including cystic fibrosis, @DISEASE$, polycystic kidney disease, @PHENOTYPICFEATURE$ and coronary artery disease, and birth defects.	false
+00ccda2a3900fe13fd05cacc5254b3fde51f955b	We investigated the frequency of restless legs syndrome (RLS) and @PHENOTYPICFEATURE$ in @DISEASE$ (SCA6).	false
+e0f7c775e3c1da414b438ac42b2a50ea31edf414	(1) Sodium channelopathies: familial generalized epilepsy with @PHENOTYPICFEATURE$ plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, episodic ataxia type 1; (3) calcium channelopathies: episodic ataxia type 2, @DISEASE$, familial hemiplegic migraine, hypokalemic periodic paralysis, central core disease, malignant hyperthermia syndrome, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia.	false
+464f7aeaa4b818a1dbde5d273605b300578678ab	The purpose of this study was to identify @PHENOTYPICFEATURE$ outcome and factors potentially predictive for seizure outcome in patients with @DISEASE$ (JAE).	false
+5f0accaaaae94615a28ef53a79a41ffd9eedcccc	The purpose of this study was to identify seizure outcome and factors potentially predictive for @PHENOTYPICFEATURE$ outcome in patients with @DISEASE$ (JAE).	false
+6f612bb47b076cee83d1c0d8f2fa3460dd932274	Therefore, this study aimed to compare long-term @PHENOTYPICFEATURE$ outcome in @DISEASE$ (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS).	false
+fa40b9e14ce526c0093026d62b76bec8672f2bb5	Out of 35 patients with @DISEASE$ (JAE), relapse of @PHENOTYPICFEATURE$ in anamnesis occurred in 25.7%.	false
+696b152000d52fbde90be244eb56b15bdce3347a	To analyse prognostic factors for long term @PHENOTYPICFEATURE$ remission in patients with childhood (CAE) and @DISEASE$ (JAE).	false
+91e44583e3df4b88d4dc6cba59ec848319549d7e	patients with childhood absence epilepsy (CAE), 11 (18.6%) with @DISEASE$ (JAE), 10 (16.9%) with isolated primary GTC @PHENOTYPICFEATURE$, and 17 (28.8%)	false
+607d0257d079a611a2768765770cea5c3d1e930c	The study results show that almost half of @DISEASE$ patients have poor @PHENOTYPICFEATURE$ control with a high rate of pharmacoresistance.	false
+028069452a591b6eef4170c95f50aba257bf833e	Age at first @PHENOTYPICFEATURE$ was significantly higher in EGTCS patients (median 18?years) than in patients with @DISEASE$ or JME (14?years each; p???0.001).	false
+f67db47d4448c125d22ebacf6a6aa236b69370db	@DISEASE$ (JAE): 11 (3.8%); and unclassified @PHENOTYPICFEATURE$: 9 (3.1%).	false
+dc49817151c0943891db1d7900d81d489348646b	The study aim was to evaluate pharmacotherapy effects and long-term @PHENOTYPICFEATURE$ outcomes in patients with @DISEASE$ (JAE) during a five-year follow-up period.	false
+586cad0b5e38a6ba1b662ab3f189ffde3a0e1173	This can show up in the first onset of @PHENOTYPICFEATURE$ in adolescence, e.g. as a form of idiopathic grand mal on awakening, @DISEASE$ or juvenile myoclonic epilepsy (impulsive petit mal).	false
+02a473b93e6e56d9d2f7f1cdb5dac8b27e6dcfd4	@DISEASE$ (IP) is not generally recognized as a cause of neonatal @PHENOTYPICFEATURE$.	false
+012a4c836002f73ca59104a3c86d032997174cc5	@PHENOTYPICFEATURE$ and strabismus are rare complications after @DISEASE$ in the U.S. military population.	false
+a9394360b9a6df745491c2190f6fae207d6cd3ff	The congenital rubella syndrome (@DISEASE$) was the leading preventable cause of childhood @PHENOTYPICFEATURE$, accounting for 22% of children examined.	false
+e15e4303d2727158858d19a737d7a36f099ca81f	The @DISEASE$ (CRS) was the leading preventable cause of childhood @PHENOTYPICFEATURE$, accounting for 22% of children examined.	false
+236eecce95e104c403948862289dde485edcdb42	Congenital rubella syndrome (@DISEASE$) is a global cause of preventable hearing impairment, @PHENOTYPICFEATURE$, and intellectual impairment.	false
+06db72a357c8de53ea745151b2de02a49626c3f1	@DISEASE$ (CRS) is a global cause of preventable hearing impairment, @PHENOTYPICFEATURE$, and intellectual impairment.	false
+c13c1ce1bcf4617456c6783b52c080bba0354843	@PHENOTYPICFEATURE$ and strabismus are known complications after corneal refractive surgery (@DISEASE$).	false
+e86f9d061e51c99ad1b8efb371b8205805186b4a	After censoring the cases that died over the 5-year period and adjusting for the factors of monthly income, geographic region, hypertension, diabetes, coronary heart disease, @PHENOTYPICFEATURE$, and hypothyroidism the hazard ratio for developing OAG over the 5-year period for subjects with CRS to subjects without @DISEASE$ was 1.73 (95% CI: 1.53-1.96).	false
+661f0655ac3f97cd45dd56a62cb2736e8fd11552	After censoring the cases that died over the 5-year period and adjusting for the factors of monthly income, geographic region, hypertension, diabetes, coronary heart disease, @PHENOTYPICFEATURE$, and hypothyroidism the hazard ratio for developing OAG over the 5-year period for subjects with @DISEASE$ to subjects without CRS was 1.73 (95% CI: 1.53-1.96).	false
+7df84985b5946ba8f4739b3fa4ed55794a7f6053	AAV patients with @DISEASE$ may be accompanied by systemic and pulmonary symptoms (cough, asthma, @PHENOTYPICFEATURE$, anemia, etc) or some positive laboratory tests (elevated C-reactive protein, proteinuria and/or hematuria, etc.).	false
+9cd254a066f345d8870992d6a34919294243dc56	The role of the national register in addressing blinding cataract, corneal @PHENOTYPICFEATURE$, eradication of @DISEASE$ and care of blind people in Oman was also examined.	false
+4a9751970afa74177fa21af8aabfca72aa4ab6ca	To identify challenges faced by key informants (KIs) in a childhood @PHENOTYPICFEATURE$ and severe visual impairment survey in Cross River State (@DISEASE$), Nigeria.	false
+4cc9a161c646453119707064ed7e1e8251eaf039	Saccadic @PHENOTYPICFEATURE$ are common in patients with @DISEASE$, but it is unclear how these alterations progress over time.	false
+b53a821b11ebaa5eef387e6f51444e31388e0be7	@DISEASE$ (SCA2): identification of early @PHENOTYPICFEATURE$ in one monozygous twin in the initial disease stage.	false
+64085e12eeeb8bf12be64707bfe69ef281ced5dc	We applied voxel-based morphometry, an indirect volumetric technique, to MRI volumes of patients carrying the @DISEASE$ mutation to determine patterns of @PHENOTYPICFEATURE$.	false
+b198e65c688f901e80eb5e92289b13931f7a433c	Ophthalmologists who examined these persons noted paramacular retinal hemorrhages and @PHENOTYPICFEATURE$, and @DISEASE$ (RVF) was suspected; serologic studies of these patients confirmed the diagnosis of acute RVF (1,2).	false
+156f5b8dda5e0eff5ef320e250e7ab7fc92a1159	Our data reveal an identifiable clinical syndrome suggestive of severe @DISEASE$, characterized by fever, large-joint @PHENOTYPICFEATURE$, and gastrointestinal complaints and later followed by jaundice, right upper-quadrant pain, and delirium, often coinciding with hemorrhagic manifestations.	false
+9084c4c0814c3bf942b65b9114094cbf9f08e18c	The present study reports the anticonvulsant activities in the maximal electroshock test (MEST) and subcutaneous pentylenetetrazole (PTZ), bicuculline (BIC), picrotoxin (PIC)-induced @PHENOTYPICFEATURE$ of the FS-1 subfraction (@DISEASE$) that was obtained by purification of an aqueous fraction isolated from the roots of D. denudatum.	false
+851157f52e40839e4466a000d920f3f74852d73c	The present study reports the anticonvulsant activities in the maximal electroshock test (MEST) and subcutaneous pentylenetetrazole (PTZ), bicuculline (BIC), picrotoxin (PIC)-induced @PHENOTYPICFEATURE$ of the @DISEASE$ subfraction (FS-1) that was obtained by purification of an aqueous fraction isolated from the roots of D. denudatum.	false
+869cc7cfc7a0254c7c9909c6fbea5522f7583ff0	The patients were followed for 3 to 14 months, without postoperative complications, including @PHENOTYPICFEATURE$, facial or auricular nerve weakness, salivary fistula, infection, tumor recurrence, @DISEASE$, or depression deformity.	false
+499bd71a2ca4953f5d9b2c9404c090b2c4db4f93	An associated syndrome, most commonly the vertebral, anal, tracheosophageal, renal, and radial @PHENOTYPICFEATURE$ association or @DISEASE$, was present in 44%.	false
+dc1ef554c7aa14f0db30d2696fe4461c998d60d1	The @DISEASE$ is an autosomal dominant condition characterized by @PHENOTYPICFEATURE$ that are frequently accompanied by congenital cardiac defects.	false
+3a34ef69c013673ef0d27be40744021fe408824f	This cardiac malformation plus associated upper @PHENOTYPICFEATURE$ led to the clinical diagnosis of @DISEASE$.	false
+758e08de44334a50d216b7c541c090d6ac09280b	The Holt-Oram syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, frequently accompanied by congenital cardiac defects.	false
+01894f1c5f4e71954bd936d983f7564e9a327621	The @DISEASE$ (HOS) is characterized by @PHENOTYPICFEATURE$, frequently accompanied by congenital cardiac defects.	false
+2fcc1d9b65cc181171f422c34b443c3cac521ecb	Holt-Oram syndrome (@DISEASE$) is an autosomal dominant disorder characterised by upper @PHENOTYPICFEATURE$ and congenital heart defects.	false
+e4057929760e04b9ddbf8e234dc7871aa460233b	@DISEASE$ (HOS) is an autosomal dominant disorder characterised by upper @PHENOTYPICFEATURE$ and congenital heart defects.	false
+6066b0243078c5b900068276668e8bcbe21f3b0a	Mutations of TBX5 cause @DISEASE$ (HOS), an autosomal dominant condition characterized by congenital heart defects and @PHENOTYPICFEATURE$.	false
+b6e8e991ee96df26f64a171b3c9051c2404ec373	Mutations of TBX5 cause Holt-Oram syndrome (@DISEASE$), an autosomal dominant condition characterized by congenital heart defects and @PHENOTYPICFEATURE$.	false
+2072264555c299630ca42439aaefb71566919bf4	We studied three families in which patients with the Holt-Oram syndrome (@DISEASE$) had various @PHENOTYPICFEATURE$ and congenital heart defects.	false
+2fe323f603c25956d4d1f4ff54ddc661ab750e55	We studied three families in which patients with the @DISEASE$ (HOS) had various @PHENOTYPICFEATURE$ and congenital heart defects.	false
+affc283242689c8b9ab2864520e4ee2b1237163e	Clinically, there are three variations of @DISEASE$: affected individuals may have only @PHENOTYPICFEATURE$ (27.4%),	false
+c0798763a4b27866875b28d62cd065942387469d	Mutations of TBX5 cause Holt-Oram syndrome (@DISEASE$) in humans, a disease characterized by atrial or occasionally ventricular septal defects in the heart and @PHENOTYPICFEATURE$ of the upper extremity.	false
+878b4744254b4b10011a0d0aa19bf40453c3cd70	Mutations of TBX5 cause @DISEASE$ (HOS) in humans, a disease characterized by atrial or occasionally ventricular septal defects in the heart and @PHENOTYPICFEATURE$ of the upper extremity.	false
+c8169f74eb84b10f7f0c96a7f311c550c452b6cd	The @DISEASE$ is a hereditary disease which associated with upper @PHENOTYPICFEATURE$ and cardiac defects such as secundum type atrial septal defect.	false
+e5003a10fea12186da63bc343ff9ac007fc46393	This article discusses the major types of cutaneous vasculitis typified by necrotizing or leukocytoclastic vasculitis and includes discussions of Henoch-Sch?nlein purpura, urticarial vasculitis, erythema elevatum diutinum, cutaneous polyarteritis nodosa, @DISEASE$, and cutaneous granulomatous @PHENOTYPICFEATURE$.	false
+ba092e5caf6197b4446b84a1d1dd3c840321b7c2	[Dermatomyositis and @DISEASE$ as the initial manifestation of a @PHENOTYPICFEATURE$].	false
+56a4d3c44acb773123e57b82b276ad15834f6b1d	We report on eight patients: seven women and one man; five white, two black and one yellow; age mean 55.9 years; four had polyarteritis nodosa, one had systemic lupus erythematosus, one had isolated peripheral nerve @PHENOTYPICFEATURE$ and one had @DISEASE$.	false
+5485df5b56854dc1edb7ae3c86b635ae9b7ba056	RGD-modified PEGylated polyamidoamine (PAMAM) dendrimer with doxorubicin (DOX) conjugated by acid-sensitive linkage (RGD-@DISEASE$) was a potential conjugate for @PHENOTYPICFEATURE$-targeted therapy.	false
+613e00ad78910ea7f7ed4c0fb67fee80ea2a8105	Nevertheless, potentially meaningful changes have already been observed in corneal dystrophies (Meesmann's dystrophy, @DISEASE$ and iridocorneal endothelial syndrome), degenerations (pterygium) and inflammatory diseases (Pseudomonas keratitis), in opacification of the lens (anterior subcapsular and secondary cataract), in diseases characterized by proliferation of the retinal pigment epithelium (macular degeneration and proliferative vitreoretinopathy), and in intraocular @PHENOTYPICFEATURE$ (uveal melanoma).	false
+cbda25074b6f4696a447ccba905edb3a2e2d16ad	Examples of founder mutations have been identified for oculocutaneous @PHENOTYPICFEATURE$, cystic fibrosis, @DISEASE$, and Gaucher disease.	false
+8d20062aa5c2967b1750cd3e6c04a10329a1b2c7	[Recurrent aphthous @PHENOTYPICFEATURE$ mucosa and @DISEASE$].	false
+cee912b709316811592e8dbd3a451ef13c3782d7	The underlying diseases included mixed CTD (MCTD), systemic @PHENOTYPICFEATURE$, primary Sjogren's syndrome (pSS), systemic lupus erythematosus (SLE), undifferentiated CTD, dermatomyositis and @DISEASE$.	false
+e0bb6fd836a0a7b26ed9db968f912912fc83d180	@DISEASE$, a multisystem disorder characterized by ocular, mucocutaneous, articular, vascular, gastrointestinal, and @PHENOTYPICFEATURE$, is described in six pediatric patients.	false
+319b18b060d54b44d9d4089ac1ba331898362a5e	Although transgene expression was reportedly modest using cationic liposomes, this method improved renal disease models such as @DISEASE$ and unilateral @PHENOTYPICFEATURE$.	false
+707cf5dd2406f57761947954de20f1642ff47e42	Developmental changes in @PHENOTYPICFEATURE$ susceptibility in @DISEASE$ mice and normal littermates.	false
+774f4f3b76f9d1473400cc5b1ca06701fbf66b7a	He had been suffering @PHENOTYPICFEATURE$ and arrhythmia due to mitral valve insufficiency, and panhypopituitarism after the first craniotomy for @DISEASE$.	false
+951434d9a5d4fd3ea6d4bf06511fde9874863a18	[@DISEASE$ with imbecility and puberal @PHENOTYPICFEATURE$].	false
+a217b896b0d654cf3a38606ffcd30d145a3a8fd8	Her clinical phenotype was complex and included gastrointestinal hypomotility, ocular @PHENOTYPICFEATURE$, and @DISEASE$.	false
+357cebe6f322508f2100d2c28c543ed85e3ff6bf	The following factors were found to be significantly associated with at least one adverse outcome: maternal age 35 years or older, multiple birth, the usage of assisted reproductive technology, living in a rural area, history of pregnancy-induced hypertension, male fetus, multigravida, or having @DISEASE$, hemolysis, elevated liver enzymes, and low platelet count syndrome, intrahepatic cholestasis of pregnancy, cardiovascular disease, gestational diabetes mellitus, @PHENOTYPICFEATURE$, thyroid disease, or liver disease.	false
+d551a1d3f1a39d119548065de8063877f631622b	@DISEASE$ (PCOS) is a common reproductive endocrine disorder associated with cardiovascular disease (CVD) risk factors and metabolic disturbances and a @PHENOTYPICFEATURE$ disease.	false
+9ae88b0b829122052d196a2475b1b416cf3ab57f	Many other risk factors (e.g., hypothyroidism, @DISEASE$, obstructive sleep apnea, hypopituitarism and @PHENOTYPICFEATURE$) for NAFLD have been described in the Western countries, but these associations are yet to be investigated adequately in the Asia Pacific region.	false
+16e60aa6dd6375278664754b41a07f859d67f3e9	@PHENOTYPICFEATURE$ may be associated with polycystic ovary syndrome (PCOS), and possibly patients with @DISEASE$ have a more severe type of asthma.	false
+62a5415d57fb8b99f1bb496b36783ee0b0329647	@PHENOTYPICFEATURE$ may be associated with @DISEASE$ (PCOS), and possibly patients with PCOS have a more severe type of asthma.	false
+e854c8ac11cdc190d22580c8c07385ab19541046	Pelvic pneumography was performed in 150 children, including those with precocious puberty, suspected pelvic masses, @PHENOTYPICFEATURE$, virilization, ambiguous genitalia, gonadal dysgenesis, @DISEASE$, amenorrhea, and contralateral inguinal hernia detection.	false
+6142749df10f89cef215fcf7e0a880ea6a9e2332	Pelvic pneumography was performed in 150 children, including those with precocious puberty, suspected pelvic masses, abdominal pain, virilization, ambiguous genitalia, @PHENOTYPICFEATURE$, @DISEASE$, amenorrhea, and contralateral inguinal hernia detection.	false
+786ab4d4e43e9b9791647253156048b0d3f1fdc9	Homozygous deletion of SHOX in a @PHENOTYPICFEATURE$ male with @DISEASE$.	false
+527c59d86ea37a6369e0fcd9160fadf09744820d	Fibroepithelioma of Pinkus (@DISEASE$) is a rare cutaneous @PHENOTYPICFEATURE$.	false
+f4de8a368c9a147d492eafbcf72d83908e527a83	This study was performed to evaluate the incidence of @DISEASE$ and clinical-pathological characteristics of patients diagnosed with this @PHENOTYPICFEATURE$.	false
+e981c59766854f75e84778b7b93cd9dc850f1f0c	We measured creatinine clearance (CCr), fractional excretion of phosphorus (@DISEASE$), and serum phosphorus, ionized calcium, and plasma N-terminal PTH, and 1,25-(OH)2D concentrations in 21 normal subjects and 51 patients with @PHENOTYPICFEATURE$.	false
+fb7512b13edce524395abef6b6defdae93f2f1bc	The BCC-like areas in some @DISEASE$ @PHENOTYPICFEATURE$ reflect these staining tendencies with less striking differences.	false
+477694414a6a6bb9f80a916443c16b84aab5e8f8	In the present study, we used a chip technology to measure metabolic (C-peptide, insulin, leptin, adiponectin and resistin) and inflammatory biomarkers (ferritin, interleukin-6, interleukin-1?, @PHENOTYPICFEATURE$ necrosis factor-? and plasminogen activator inhibitor-1) in the serum samples of a population of @DISEASE$ patients before and after 7 months of antipsychotic drug treatment, compared to control subjects (CS).	false
+dce96635d6b8c81f838091d4f133859b1823e719	Rett syndrome is a progressive neurologic condition, affecting only girls and characterized by acquired microcephaly, dementia, seizures, autistic behavior, spontaneous @PHENOTYPICFEATURE$, spasticity, @DISEASE$ and a peculiar characteristic stereotypic movement disorder.	false
+d487d1414984cde8fe7ec63cfaf999050f0992b1	After resolution of the @PHENOTYPICFEATURE$ with VP shunt, he developed severe parkinsonism, Parinaud syndrome, and @DISEASE$, suggesting global rostral midbrain dysfunction, but high-dosage levodopa therapy was not effective.	false
+c1eca7838d33507fa2b1956a121e5b5fd4e49be0	Recommendations are made as to how these states of @DISEASE$ in chemoreceptors and muscle afferents might be modified in treating sleep apnea, drug-resistant hypertension, @PHENOTYPICFEATURE$-induced sympathoexcitation, and the exertional dyspnea of chronic obstructive pulmonary disease.	false
+dd4e9c17156e6f2ee0b8aa394df38c0db9fbfb77	Neurological examination revealed mild mental and @PHENOTYPICFEATURE$, spasticity and @DISEASE$ of lower extremities, choreoathetoid movements of extremities, and compulsive self-mutilation.	false
+89a8288ab893ab1d9ce33ef2b9ae33b9990e8964	Common features included slowly progressive truncal/limb ataxia, dysarthria, generalized @DISEASE$, and @PHENOTYPICFEATURE$.	false
+248d360073e98cce14f97c3acc9982a0f2568603	The patient had developmental delay, truncal hypotonia, @DISEASE$ and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, @PHENOTYPICFEATURE$, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turned conrners of the mouth, a prominent philtrum, thin upper lip, pointed chin, and deep palmar creases.	false
+14eecbb50ae143b91c29c5a690f3ac8fc1ff3933	The patient had developmental delay, truncal hypotonia, @DISEASE$ and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turned conrners of the mouth, a prominent philtrum, @PHENOTYPICFEATURE$, pointed chin, and deep palmar creases.	false
+3b474c4876f6003e69df53387cf42cb79d88e8bd	The connection of HELLP syndrome with the following variables was assessed in the control group: gestational age, maternal age, infant formula, prenatal control, hypertensive disorder history, headache, @PHENOTYPICFEATURE$, phosphen, nausea, vomiting, epigastric pain, edema, @DISEASE$, blood pressure values, hepatic biometry, platelet count, blood chemistry with hepatic function.	false
+349970ff3898eed684aacc80d8032560b4172f6a	Common signs and symptoms also found on presentation include macrocephaly, ataxia, developmental delay, optic disc pallor or atrophy, @DISEASE$, tremor, @PHENOTYPICFEATURE$, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others.	false
+94effd67839babed73d94490cab369222ca849ae	We report here a family with leukodystrophy clinical features of which are characterized as adult onset, probably autosomal dominant inheritance, @DISEASE$, cerebellar ataxia, @PHENOTYPICFEATURE$ and no peripheral nerve involvement.	false
+e65ed174d35a61320f9fa9c043d3daadc79f68dc	A 32-year-old woman presented with chronic headaches and worsening nausea, @PHENOTYPICFEATURE$, dizziness, and @DISEASE$ and clonus in her lower extremities.	false
+ef8a4d9251ded77502f5c7bcbcb3e600c102b20d	Association of homozygous LMNA mutation R471C with new phenotype: @DISEASE$, progeria, and rigid spine @PHENOTYPICFEATURE$.	false
+a6bb57c04f19d2e37701656b29556bc4f2a6ed88	To investigate effects of mandibular advancement device (@DISEASE$) therapy for obstructive @PHENOTYPICFEATURE$ hypopnea syndrome (OSAHS) on the genioglossus contractile properties and fibre-type distribution.	false
+d8cd7c15530551cd70383176ffac2a78ab954737	We report on a 7-year-old girl with a phenotype combining @DISEASE$ (MAD), progeria, and rigid spine @PHENOTYPICFEATURE$.	false
+69cc4a74968fcad0757089956f581d767bfe6833	We report on a 7-year-old girl with a phenotype combining mandibuloacral dysplasia (@DISEASE$), progeria, and rigid spine @PHENOTYPICFEATURE$.	false
+c7869e4542fe885d3e1bcda9ee6239dd4979479f	These diseases include dilated cardiomyopathy with variable @PHENOTYPICFEATURE$, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, @DISEASE$, and Hutchinson-Gilford progeria syndrome.	false
+0c191f3fcf722cf4f12b83311068e5fb98ec49a6	@DISEASE$ is a rare congenital shoulder girdle anomaly characterized by scapula malposition, periscapular @PHENOTYPICFEATURE$, and limited shoulder movement.	false
+e4f3e637eebb0dbe59085314d00b4b55be00b644	The clinical picture suggested @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (@DISEASE$) syndrome.	false
+5389db0f33e507cf856054b18b7e5453e22b3ea1	[Dysmaturity as symptom of the @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (@DISEASE$) syndrome].	false
+89fee94f2691c49a2dc166823aa6448acf238fca	We report a 2-year-old girl with a combination of the ectodermal dysplasia, ectrodactyly, cleft lip/palate (@DISEASE$) syndrome, distinctive @PHENOTYPICFEATURE$, scalp dermatitis and atopic disease.	false
+c1d62cc1e5de22e060a3105b108e3c505832835a	We report a 2-year-old girl with a combination of the ectodermal dysplasia, @PHENOTYPICFEATURE$, cleft lip/palate (@DISEASE$) syndrome, distinctive hair abnormalities, scalp dermatitis and atopic disease.	false
+14f9490830e6bcc346a1ee9855120923e0a936d3	@PHENOTYPICFEATURE$, ectodermal dysplasia, and cleft palate (@DISEASE$) syndrome.	false
+2408193264c628d8655809a31d006d4ddae11e43	@PHENOTYPICFEATURE$, ectodermal dysplasia and clefting (@DISEASE$) syndrome.	false
+7395863744eb9ab8ee9767112a8fbd265b5449e9	@PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (@DISEASE$) syndrome.	false
+dff12773381cee1232e72ed5387f7be6600f0263	The @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (@DISEASE$) syndrome is characterized by ectrodactyly, ectodermal dysplasia, and clefting.	false
+aafc5cf002752000006933b43a898bd17b155a7c	The ectrodactyly-ectodermal dysplasia-clefting (@DISEASE$) syndrome is characterized by @PHENOTYPICFEATURE$, ectodermal dysplasia, and clefting.	false
+8a47967677d780c530c3cfbd82a4957eabb3e248	The @PHENOTYPICFEATURE$-ectodermal dysplasia-clefting (@DISEASE$) syndrome.	false
+6e61abfafa8b128b0fcb6d5016e754885616d76f	@PHENOTYPICFEATURE$ - ectodermal dysplasia - cleft lip/palate(@DISEASE$) syndrome.	false
+b5a992694a6b3b99a6874092d1c69cb8f0e79cf7	@PHENOTYPICFEATURE$-ectodermal dysplasia--clefting (@DISEASE$) syndrome.	false
+238f1cac9892f205494b62c9c622528a5d14ad8e	@DISEASE$ (CD) is an autosomal recessive @PHENOTYPICFEATURE$ disorder prevalent in the Ashkenazi Jewish (AJ) population.	false
+ef2160d8898f0231058140634570931d77dea8ec	@PHENOTYPICFEATURE$ and @DISEASE$ owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.	false
+a779b04c5326883e67d08b1cacbc4efb3178df8c	@DISEASE$, @PHENOTYPICFEATURE$, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis.	false
+b70cdc118a3924909424bd646fb794c1c92a2301	These findings, including @DISEASE$ and @PHENOTYPICFEATURE$ accompanied by various other clinical symptoms, have been described as a clinical entity with an autosomal recessive mode of inheritance.	false
+d5759efb3f9273ad0b03eea27a24e72c0d5c8f2b	In addition to hypotrichosis of the scalp @PHENOTYPICFEATURE$ bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type @DISEASE$ were also present.	false
+4cbf03542dad7553518213f9acbeea367376b7f6	In addition to @PHENOTYPICFEATURE$ of the scalp hair, abnormally bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type @DISEASE$ were also present.	false
+1e07eb0d5fd173f9c1c7288991314000c8a5ca6c	@DISEASE$ with @PHENOTYPICFEATURE$: report of a case.	false
+6b229bece544f36c0aabb63cadb6b647235de695	A case is reported here of @DISEASE$ because of focal glomerulosclerosis in a three-month-old female infant with @PHENOTYPICFEATURE$ since birth.	false
+bec539b16825f804d73fb5dc4c38b29316030184	We describe a male infant with early myoclonic encephalopathy (EME) associated with the @DISEASE$, @PHENOTYPICFEATURE$, multiple minor anomalies, and cerebellar hypoplasia.	false
+73c213766ae03c8804dbff03dd095eb29e3e52d6	@DISEASE$ is an uncommon disease with variable etiology, course and prognosis; its association with @PHENOTYPICFEATURE$ is even more unusual.	false
+3f87057801bc1c7bddda5e468a02a94987ad245e	Three sibs born to consanguineous parents had @DISEASE$, @PHENOTYPICFEATURE$, and psychomotor retardation.	false
+f7e5d2657e2e13cbf7e3db11951986e26a630638	The clinical phenotype to some extent overlaps that of Pierson syndrome (PS), which comprises @DISEASE$ and distinct ocular abnormalities but which may also include neurodevelopmental deficits and @PHENOTYPICFEATURE$.	false
+6a9f45a57594b0fec507afb505f88d78d63fec7d	The Authors describe two monochorionic twins affected by @DISEASE$ with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and @PHENOTYPICFEATURE$ started at 30 months.	false
+5d358a70e13d0e3df1d00c9cf9b4e71fb4136e8e	This appears to be the 3rd histologically confirmed association of placental @DISEASE$ with mesenchymal @PHENOTYPICFEATURE$ of the liver in the English language literature.	false
+760d947aa192d90cc40190549afc903a95447f9e	Prenatal imaging and postnatal pathologic work-up in a case of fetal hepatic @PHENOTYPICFEATURE$ and placental @DISEASE$.	false
+93e93137f9e36f823661a4d1237a3b1bef52d50d	While extremity enlargement secondary to hemihypertrophy may occur in 15% of patients with @DISEASE$, progression and pitting @PHENOTYPICFEATURE$ only occur in primary lymphedema.	false
+900bd3e70f958133b9ca3f93f17ff44bf5cfa19f	@DISEASE$ is a human congenital disorder characterized by a wide variety of @PHENOTYPICFEATURE$, including developmental defects and predisposition to certain tumors.	false
+fad3c9f750b623909abbe0a017a08e17ad294d05	Interestingly, a recent study discovered that loss of function or gain of function of CDKN1C also causes clinically opposite disorders, @DISEASE$ and IMAGe (intrauterine growth restriction, @PHENOTYPICFEATURE$, adrenal hypoplasia congenita, and genital anomalies) syndrome, respectively.	false
+5932361ff0d823fbbddda4d688408fff785bfca7	[Probable variation of the @DISEASE$ (macroglossia, @PHENOTYPICFEATURE$, umbilical hernia, somatovisceral hemihypertrophy, disorders of glycide metabolism, psychomotor retardation and convulsions)].	false
+81d140d089deb382329527f19b1f5bb8662ae3f1	Partial hydatidiform mole is optimally diagnosed histopathologically when four microscopic features coexist: 1) two populations of villi, 2) enlarged villi (> or = 3-4 mm) with central captivation, 3) irregular villi with geographic, scalloped borders with trophoblast inclusions, and 4) trophoblast hyperplasia (usually focal and involving syncytiotrophoblast). Pathologic mimics of partial mole include @DISEASE$, placental angiomatous malformation, twin gestation with complete mole and existing fetus, early complete hydatidiform mole, and @PHENOTYPICFEATURE$ spontaneous abortion.	false
+10ef7fd8961b9bd23ed2160adcaa709308de1ec5	The main features of @DISEASE$ (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-@PHENOTYPICFEATURE$.	false
+782f67fda81ad2a1c46156ab2e7f7a8bfc6c8c0d	Features characteristic of the @DISEASE$ phenotype include both physical attributes, such as macroglossia, abdominal wall defects, gigantism, nevus flammeus, visceromegaly, and mid-@PHENOTYPICFEATURE$, as well as biochemical abnormalities such as hypoglycemia.	false
+cf917c3fd07826f07e09e64ed2743b1c2a23f382	Two experienced radiologists individually evaluated bowel distension and pathological findings including wall thickness (BWT), contrast enhancement (BWE), ulcer (BWU), stenosis (@DISEASE$) and @PHENOTYPICFEATURE$ (EDM).	false
+a1d7440813ad9f1b0e784c3a833dc48651f8b56a	@DISEASE$ type IV (SCN IV) is a syndrome of severe neutropenia, cardiac and urogenital defects, prominent superficial veins, @PHENOTYPICFEATURE$, failure to thrive (FTT), and intermittent thrombocytopenia, caused by a glucose-6-phosphatase catalytic subunit 3 (G6PC3) gene mutation.	false
+447e956b3cea2f377798d898635065cda21e7c5c	@DISEASE$ is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, @PHENOTYPICFEATURE$, joint stiffness, and skeletal anomalies.	false
+17c05aae432fcd1ca2d1598ef64d13124ca35ed6	@DISEASE$ (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized by developmental and growth delay, athletic muscular built, variable @PHENOTYPICFEATURE$, skeletal anomalies, stiffness of joints, distinctive facial gestalt and deafness.	false
+eaa88244493a5d80aa98705e8a3cb61dff766728	A case of post-@DISEASE$ autoimmune epilepsy presenting with sleep-related hypermotor @PHENOTYPICFEATURE$.	false
+42a561d72db1ec7c3b8a36cd12599b23fe4729cb	To the best of our knowledge, post-@DISEASE$ autoimmune epilepsy presenting as sleep-related hypermotor @PHENOTYPICFEATURE$ has not hitherto been reported.	false
+35e61718094a36908d67e147dae5f33c680cc4f5	We report a new presentation of a patient found to have @DISEASE$; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic @PHENOTYPICFEATURE$, indicative of an acute active destructive process.	false
+2ab16a633e3a280d2c01bacebca7d303bada6275	A case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+3eeb4b181e3c2ddf1cd768fcd336bbe97b53e930	We report a ten-month old boy with @DISEASE$ who presented with global developmental delay, seizures, abnormal eye movements and @PHENOTYPICFEATURE$.	false
+cf2d4b8a82f5c99c72a0243cd0b41655273beaeb	Cytotoxic @PHENOTYPICFEATURE$ and diffusion restriction as an early pathoradiologic marker in @DISEASE$: case report and review of the literature.	false
+e3150a13c4b08664f90efebe709222b7763b8a66	Possibility of @DISEASE$ should be considered even in the presence of @PHENOTYPICFEATURE$.	false
+8a2a4e0a1140fa5015596ec54b38ccfcd1f965c0	Neuropathologic evaluation reveals a striking spongiform degeneration of the cortex and specific brain stem nuclei associated with gliosis and intramyelinic vacuolization similar to that observed in cytotoxic @PHENOTYPICFEATURE$ and disorders associated with mitochondrial abnormalities such as Leighs disease and @DISEASE$.	false
+5d5575519fe9365d7b4e68af25f5b04ebc13cb6f	The absence of aspartoacylase activity in @DISEASE$ (CD), a rare early onset genetic spongiform leukodystrophy, is associated with CNS @PHENOTYPICFEATURE$, intramyelinic swelling and a progressive loss of oligdendrocytes.	false
+7743732ca1d97dd868ac7fe133c0986421f6a6dd	The @DISEASE$ is probably a subset of @PHENOTYPICFEATURE$ dysfunction syndromes characterized by detrusor-sphincter discoordination along with a characteristic inversion of facial expression with laughing.	false
+9e52641cc148c80ce484497e6b28de63450e6ff7	@DISEASE$: a subset of @PHENOTYPICFEATURE$ dysfunction syndromes?	false
+080c5889ea776f6c043844ad85dc540be62e358e	@DISEASE$: A subset of @PHENOTYPICFEATURE$ dysfunction syndromes?	false
+3078e4672110a10a22bd7f08af85787c77eb87c9	Congenital @DISEASE$ and @PHENOTYPICFEATURE$ in 2 littermate kittens.	false
+7770f0433fabee21d73bb9eb39ae17cdfcbca18a	deletion syndrome is a clinically heterogeneous condition of @PHENOTYPICFEATURE$, parathyroid and @DISEASE$, palatal abnormalities, cardiac malformations and psychiatric symptoms.	false
+81034b281616dfaa3c97661df15885ba96a620a1	We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and @DISEASE$ who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and @PHENOTYPICFEATURE$.	false
+a7bcd6126c844f7bca818bfdd6577d6c7e25f9ff	This review is divided into two sections: (a) determination of homocysteine (methods and their performance, sample collection and handling, biological determinants, reference intervals, within-person variability, and methionine loading test); and (b) risk assessment and disease diagnosis (@DISEASE$, folate and cobalamin deficiencies, cardiovascular disease, @PHENOTYPICFEATURE$, psychiatric disorders and cognitive impairment, pregnancy complications and birth defects, and screening of elderly and newborns).	false
+f25b7ea711a06a20b8b0783853bce717cf8ace86	From such studies, it is now apparent that the vascular endothelium represents an extraordinarily complex network of cells demonstrating a multitude of distinct anatomic, metabolic, and immunologic properties critical to such processes as angiogenesis, atherosclerosis, thrombosis, @PHENOTYPICFEATURE$, and a variety of metabolic disorders including @DISEASE$ and diabetes mellitus.	false
+2964dfd9a6c414f362a20fb77f9d537982ab2dec	Other conditions for which relevant deviations in heterozygotes are possible or even likely include among others lipid storage diseases, microcephaly, @PHENOTYPICFEATURE$ epilepsy, Wilson's disease, galaktokinase deficiency, @DISEASE$, recessive myotonia and ataxia- teleangiectasia (increased cancer risk).	false
+a7492289a9e54db54a956e8f7b3726ec3a3afc7d	We report the first case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+05db6b79c67a13b2d417c362bf85f18e51cee241	Previous reports of head CTs in patients with @DISEASE$ did not note @PHENOTYPICFEATURE$.	false
+b7029a9a80a35b6afaa295b54ad56e25752902ac	To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-@DISEASE$, atrial septal defect, and @PHENOTYPICFEATURE$.	false
+2ec7f32f6457fafb1e80b26c8e78a1b4d10bdf7c	The boy suffers from exercise intolerance, @PHENOTYPICFEATURE$, nystagmus, macular hypoplasia and anterior segment abnormalities evocative of Axenfeld-@DISEASE$.	false
+742916e5ab79ea0605f7a6cffd78b917d2293928	Bru heterozygous mice display defects similar to Axenfeld-@DISEASE$, including iris defects, corneal opacity, vacuolar @PHENOTYPICFEATURE$, significant iris/corneal adhesions, buphthalmos and optic nerve cupping, a sign indicative of glaucoma.	false
+7ceae45d49279da6b8d08d2d8399d33ab1a81208	Familial Axenfeld-@DISEASE$, atrial septal defect, and @PHENOTYPICFEATURE$: a possible new genetic syndrome.	false
+1042bac4ff1f343245e4ef00559c2fd188c974dd	Both human subjects had @DISEASE$ with similar defects including thin irides and irregular pupils, as well as a prominent ring of Schwalbe, goniosynechiae, early @PHENOTYPICFEATURE$ formation, and glaucoma.	false
+325cbbb55457fe0c678a500cb1dd23b027f95ca7	A 6 year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, @PHENOTYPICFEATURE$, short stature, Axenfeld-@DISEASE$, a bicuspid aortic valve, and bilateral sensorineural deafness.	false
+ed947ba5d0900a22830c53d2e3f18beef1266a2b	Familial Axenfeld-@DISEASE$, cardiac malformations, and @PHENOTYPICFEATURE$: a provisionally unique genetic syndrome?	false
+ef550fd260091d4eccc271640bfd2763de9b0828	This is the first description of coexisting Axenfeld-@DISEASE$, atrial septal defect, and @PHENOTYPICFEATURE$ in multiple members of a single family.	false
+c207cd74eb537ae128eaf9b0e24bc9cd64a1ee25	@DISEASE$ complicated with @PHENOTYPICFEATURE$ and cardiomyopathy.	false
+3277b86ec5ec78eb433c4a61eee570da8e0542d1	They included Apert syndrome, radiation therapy for pilocytic astrocytoma, @PHENOTYPICFEATURE$, @DISEASE$ and Down syndrome.	false
+e1f9e54ac6479e271200581be36a77da10516fe5	The nature and frequency of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+d7f519e52fe376dcf1cc57e11b1cc7c407cd08b8	The authors report on a 23-year-old man with no features of @DISEASE$ who presented with headaches, blurred vision, and @PHENOTYPICFEATURE$.	false
+fc8e725b4693258c34d0cb78a9dfd62608b484de	@PHENOTYPICFEATURE$ and fine motor deficits are frequent manifestations in patients with @DISEASE$ (NF1).	false
+b794d5d9891db6901476e618931d03959309c367	A 2 and a half year-old boy with @DISEASE$ developed unilateral proptosis, @PHENOTYPICFEATURE$, and optic disk edema.	false
+947226d62a26ba2c740127673352d45b0c161ea6	In patients with @DISEASE$ (NF1), @PHENOTYPICFEATURE$ are frequent manifestations.	false
+0c769c2daf3e82e43ffdec26de1783012342117d	@PHENOTYPICFEATURE$ in @DISEASE$ type I: a potential clue to diagnosis.	false
+7daed57dc228d9c81683742850a25c11a3a03e06	@PHENOTYPICFEATURE$ is the most common complication of @DISEASE$ (NF1) in childhood.	false
+bda0bd2eb01fac624fd67686f923b598ac454404	[Specific learning and @PHENOTYPICFEATURE$ in @DISEASE$].	false
+d8412cfd7a9887e967138532706a7f09cdc29960	Gastrointestinal stromal tumor perforation in a case with @DISEASE$ presenting with @PHENOTYPICFEATURE$.	false
+7f7d40e7d2ce34155c3bd49b2823094eabb6c60d	The number of loci for N-@DISEASE$ @PHENOTYPICFEATURE$ in the governorates sample was estimated at 8.3.	false
+65d25812d013b276ab5a3733db32c588d211efa9	The number of loci for non-syndromic autosomal recessive sensorineural (N-@DISEASE$) @PHENOTYPICFEATURE$, was estimated within the Tunisian population and compared to that obtained in other populations.	false
+a1ffbea50f0495e0724394b1ee21dd1c56bc4552	Results could provide data for genetic counseling and facilitate our research concerning the localization of the different loci for N-@DISEASE$ @PHENOTYPICFEATURE$ present in Tunisian population.	false
+27ac76500e87a3e3cb083d7e01f4f31667cd0bf9	Neurological complications of @DISEASE$ (HUS) include altered states of consciousness, seizures, ischaemic stroke and @PHENOTYPICFEATURE$.	false
+fbdb27aa7d1e654da59e14b942c7605030b79238	Neurological complications of haemolytic uraemic syndrome (@DISEASE$) include altered states of consciousness, seizures, ischaemic stroke and @PHENOTYPICFEATURE$.	false
+502f3d86189ad7956074c127d1a19f2d0cb87bc3	We report the first case of @DISEASE$ (HUS) associated with Streptococcus pneumoniae @PHENOTYPICFEATURE$.	false
+10d1201960194687d167410744b124c1f5b89a1c	We report the first case of Haemolytic-uraemic syndrome (@DISEASE$) associated with Streptococcus pneumoniae @PHENOTYPICFEATURE$.	false
+84178e7d127f07a293c7ce5b36b737c5e7182f8f	Anecdotal reports have described a host of morbidities associated with that practice, including severe electrolyte @PHENOTYPICFEATURE$ acidosis, megaloblastic anemia, allergic reactions including life-threatening anaphylactic shock, @DISEASE$, and infections.	false
+f36f7c720535dc9e7c7e1c8e97f73f27aeb51df8	Some patients, including adults, showed complications such as @PHENOTYPICFEATURE$, disseminated intravascular coagulation, and @DISEASE$, and the disease course was extremely aggressive.	false
+24a3e2be81dbb5bcadd374352950f4f7be082ceb	Reversible MR findings of @DISEASE$ with mild @PHENOTYPICFEATURE$.	false
+499b6f55e018220fa2c88180b424b17701eef667	We report the reversible MR findings in a 7-year-old girl with @DISEASE$ and mild @PHENOTYPICFEATURE$.	false
+905c488107dae87205a69156889826b62dcf5a6b	Proinflammatory cytokines play an important role in the pathogenesis of EHEC infection and development of severe complications, including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2d1cf94b7394893abdb9b761980485b73f5845ef	@DISEASE$ associated with Streptococcus pneumoniae @PHENOTYPICFEATURE$.	false
+16eff6dd0c918868e8db1a1049c5e9f770059b10	We reported a case of a 22-months child with @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+909904f0ee671cf83e5eff7c7ab7c2e27a639842	Serum tau protein levels increased rapidly and markedly in patients with severe EHEC 0111/@DISEASE$ and @PHENOTYPICFEATURE$ when HUS occurred, but were not elevated in mild patients, even in the HUS phase.	false
+b60f95168c70acd5a0861f0a85828cdc9f07c57f	Serum tau protein levels increased rapidly and markedly in patients with severe EHEC 0111/HUS and @PHENOTYPICFEATURE$ when HUS occurred, but were not elevated in mild patients, even in the @DISEASE$ phase.	false
+59b4cde945e416ec4a0b8ae9a3a2ce3780e0b73e	Serum tau protein levels increased rapidly and markedly in patients with severe EHEC 0111/HUS and @PHENOTYPICFEATURE$ when @DISEASE$ occurred, but were not elevated in mild patients, even in the HUS phase.	false
+8f92cb6b4fe841efb4be541a4b4f6c2cc6c9c924	Specific problems of living kidney donation associated with certain systemic (chronic hypercalcemia due to CYP24A1 gene mutations, primary hyperoxaluria, @DISEASE$) and renal (medullary sponge kidney, cystinuria, distal renal tubular acidosis, Dent's disease, Bartter syndrome, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis) Mendelian disorders that cause nephrolithiasis are also addressed.	false
+f9e0dcc6555d60f7ebf3b900f24fe9dccd1410c9	Activation of wnt-1 or int-2 was rare in @DISEASE$-derived @PHENOTYPICFEATURE$ (6% and 0%) compared with primary tumors in breeders (52% and 14%).	false
+1e853ce60d740c448bde31ae29b6652f67296e17	Activation of wnt-1 or int-2 was rare in @DISEASE$-derived tumors (6% and 0%) compared with primary @PHENOTYPICFEATURE$ in breeders (52% and 14%).	false
+0bacb47586742f619cfb65d17e145b86521c89ab	At the age of 14 years, the patient had isolated @DISEASE$ @PHENOTYPICFEATURE$ of the left knee.	false
+c8e692bbfb0243a12babb35d077ddebf9022dc00	Three children had extrapulmonary disease (two had cervical adenitis, one had @DISEASE$ @PHENOTYPICFEATURE$).	false
+eae51fb6b44cb6f29413fa731ae9888d14748df8	@DISEASE$ @PHENOTYPICFEATURE$ was diagnosed in two patients after they had undergone total knee replacement.	false
+3882aec7247320f6a423bce3037c11ea659535fe	The story began with a tuberculous @PHENOTYPICFEATURE$ of the foot, later associated with pulmonary, endobronchial, mediastinal and cervical lymphadenitis @DISEASE$.	false
+4d9e710081d13f0a0ce0dc64a84f1bd8df78fdfc	@DISEASE$ versus @PHENOTYPICFEATURE$.	false
+ff02a2f1e61f48da31c059c604b33b82be82096c	@DISEASE$ @PHENOTYPICFEATURE$ and tenosynovitis.	false
+2a89b2bb77d26a7a16ca2a4b4ed21cfd1a4c9069	Leuconostoc bacteremia in a patient with amyloidosis secondary to rheumatoid arthritis and @DISEASE$ @PHENOTYPICFEATURE$.	false
+b919f39ab172ba7ad3a9d44e4b271526f636692b	Open lung tuberculosis with concomitant bone @DISEASE$ and tuberculous @PHENOTYPICFEATURE$ of the left middle foot and spondylodiscitis.	false
+85f6378c5a115c284d308d2cbbde5e7e917dfb83	Eight patients presented with pulmonary tuberculosis, one had tuberculosis @PHENOTYPICFEATURE$, one had @DISEASE$ osteomyelitis.	false
+2af57de128cc590188ae5dc35e7e71f62d2813f8	Eight patients presented with pulmonary tuberculosis, one had @DISEASE$ @PHENOTYPICFEATURE$, one had tuberculosis osteomyelitis.	false
+3ab1d14bd008c191fcbaeb2f229824220590a877	Of the patients 82 presented with @PHENOTYPICFEATURE$, 40 with bladder exstrophy, 3 each with @DISEASE$ and posterior urethral valves, and 1 with female hypospadias.	false
+cd189ebf8df7c4ea48e21f484f1efa7929c92c85	@PHENOTYPICFEATURE$ and microcephaly, which represent the main clinical features of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like condition @DISEASE$ pseudo-TORCH syndrome.	false
+732c9ebe1d6905c9012dbbf64fa8d05196237a09	@PHENOTYPICFEATURE$, periosteal proliferation and microcephaly, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder @DISEASE$ Raine syndrome.	false
+91785dc7e4e26374f6a1f5028d5057c7984f09ac	Triad of leukoencephalopathy, @PHENOTYPICFEATURE$ and cysts (LCC) is a recently reported rare disease @DISEASE$ 'Labrune syndrome' after the first case was reported in 1996 by Labrune et al.	false
+891c812a3fc01c48e86f5905b57f5fdbef864e49	The most common anomalies were @DISEASE$ (73,3%), followed by @PHENOTYPICFEATURE$ (66,6%).	false
+666479fe5790ba3c385e4d4518b41f07e1109856	Associated VACTERL diagnoses included @PHENOTYPICFEATURE$ in 1562 (31.5%), @DISEASE$ in 2007 (40.4%),	false
+c1c764159230f295f39ba03d46afa565d7dfa644	@PHENOTYPICFEATURE$ of the facial nerve and @DISEASE$.	false
+5f69b950858bfa88048a1cd811f67477e4f6c1d6	A 12-year-old male was admitted with postaxial polydactyly on the right hand, @DISEASE$, @PHENOTYPICFEATURE$, and facial asymmetry.	false
+4e3daaa070438919e356b7db209dd7a1e02705d3	@PHENOTYPICFEATURE$ are present in @DISEASE$ though scarcely recognizable on the chest film of the newborn.	false
+2b56944b27d03c20ee48656a79ca1d8356440b1d	The female proband presented with a @DISEASE$, @PHENOTYPICFEATURE$, and facial dysmorphic features.	false
+8a904e022a6e1f5436fbf5b29285ecf27b3479d8	Anomalies such as hearing loss, @DISEASE$, @PHENOTYPICFEATURE$ and mental impairment have also been reported.	false
+4a1f25817e15593f841029a02e4761a1d70a2964	It is an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, postaxial polydactyly, ectodermal dysplasia and @DISEASE$.	false
+e6fb386493b7e14b0af26c105a9fccd80b0fb15c	The other infant had an area of diminished scalp hair, @PHENOTYPICFEATURE$, and a @DISEASE$.	false
+fc6071a1402e89ea463d7a8dbd76cc186fa99ea5	Kaufman syndrome (hydrometrocolpos, polydactyly, and @DISEASE$) with pituitary dysplasia, choanal atresia, and @PHENOTYPICFEATURE$.	false
+4b823dfdb3a3808ab08fbaf823e7429f450aaf1a	@DISEASE$ (SPS) is an autosomal-dominant @PHENOTYPICFEATURE$ characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.	false
+9dbfe193c911685d2926f7be728817251bf0c210	In humans, haploinsufficiency of TBX4 causes @DISEASE$, a @PHENOTYPICFEATURE$ characterized by anomalies of the knee, pelvis, and foot.	false
+a632a37a8f4106aa34f719d3d42b879e931a1cb9	@DISEASE$ (SPS) is a rare @PHENOTYPICFEATURE$ relating to the T-box protein 4 (TBX4) gene, which regulates the development of lower extremities.	false
+1a93e76e43d41b9de233dbfd85e592f22a75d812	Of the 13 patients (6%) who died of cardiovascular causes related to @DISEASE$ had progressive @PHENOTYPICFEATURE$ (including 6 in the end-stage phase) and only 2 died suddenly.	false
+7066688f5e56a1fb57b78d66b5b969193054bd20	In a cohort of 12 clinically characterized patients with @PHENOTYPICFEATURE$ (CHD) and features suggestive of Noonan syndrome or @DISEASE$ without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations (Human660W-Quad Chip, Beadstation Scanner and GenomeStudio V2011 software).	false
+1df1a21264f924792250c69a323098651450bbfd	@DISEASE$ with loose anagen hair (NS/LAH; OMIM 607721) is a developmental disorder clinically related to Noonan syndrome (NS) and characterized by facial dysmorphisms, postnatal growth retardation, @PHENOTYPICFEATURE$ (in particular dysplasia of the mitral valve and septal defects), variable neurocognitive impairment, and florid ectodermal features.	false
+39360eba9374a2050f5c64c0dd0e5134241d4454	The most frequently encountered medical problems on Tanna were infectious diseases (tuberculosis, hepatitis, abscesses, malaria, pneumonia, @DISEASE$, meningitis and @PHENOTYPICFEATURE$).	false
+f2b344521c44a7c9f212a92e860d34c950b17763	Their rearrangements facilitate the refinement of the @DISEASE$ critical region and suggest that a) deletion of at least 3 of the 4 platelet function critical genes (ETS-1, FLI-1 and NFRKB and JAM3) is necessary for thrombocytopenia; b) one of the critical regions for heart abnormalities (conotruncal heart defects) may lie within 129.03 - 130.6 Mb; c) deletions of KCNJ1 and ADAMTS15 may contribute to the @PHENOTYPICFEATURE$ in Jacobsen Syndrome; d) the critical region for MRI abnormalities involves a region from 124.6 - 129.03 Mb.	false
+86e72422a46ce15c36f0066ac1aa9ed968537f4d	Growth of @DISEASE$ @PHENOTYPICFEATURE$ in syngeneic mice initiates an anti-tumor immune response that initially manifests as progressive splenic hyperplasia and an increased proliferative ability in cultured splenocytes.	false
+870df5c5f12779f81a7ce1d0bc1321bdfb6c9eb0	Growth of subcutaneous @DISEASE$ @PHENOTYPICFEATURE$ were measured; splenic tissue excised and flow cytometry used to quantify and compare systemic Tregs and T effector (Teff) cell populations.	false
+4e263e853e20c34f31fc22add2cf462068d7cf2e	Immunocompetent Balb/c mice were fed by gavage, either @PHENOTYPICFEATURE$ tissue (@DISEASE$/CarB) in phosphate buffered saline (PBS) or PBS alone, daily for 14 days.	false
+2b4bd20c1247c0b3ee28581bf19e8d30251f44cf	@DISEASE$ tumors appeared earlier and grew faster in the JBS @PHENOTYPICFEATURE$ fed mice than in either the PBS (P = 0.025) or CarB (P = 0.168) fed animals.	false
+87457b65d5911d6e45c4e5ec04217ea0193286ff	JBS @PHENOTYPICFEATURE$ appeared earlier and grew faster in the @DISEASE$ tumor fed mice than in either the PBS (P = 0.025) or CarB (P = 0.168) fed animals.	false
+95e160ab67dd157e07968172d6280cebfa8a035d	JBS tumors appeared earlier and grew faster in the @DISEASE$ @PHENOTYPICFEATURE$ fed mice than in either the PBS (P = 0.025) or CarB (P = 0.168) fed animals.	false
+f47546f0272c4fe26008f0b1e3b53d07c742d1e2	@DISEASE$ @PHENOTYPICFEATURE$ appeared earlier and grew faster in the JBS tumor fed mice than in either the PBS (P = 0.025) or CarB (P = 0.168) fed animals.	false
+49bd29c006b54f16c10d1666fd1e37c4c17b20dc	Joubert syndrome (@DISEASE$) is a viable neurological disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting @PHENOTYPICFEATURE$/dysplasia.	false
+58e431e98cf5881a38ee51dd923ef1f60eba2134	At CT, pancreatic abnormalities may manifest as pancreatic enlargement (@PHENOTYPICFEATURE$, acute pancreatitis), pancreatic atrophy (cystic fibrosis, chronic pancreatitis), cystic lesions (pseudocysts, congenital simple cysts, autosomal dominant polycystic kidney disease, von Hippel-Lindau disease, cystic fibrosis, cystic neoplasms), or fatty replacement (cystic fibrosis, Shwachman-Diamond syndrome, history of steroid therapy, Cushing syndrome, @DISEASE$, obesity).	false
+5648c1d9a3c97659a6396077f2afab8f88c50288	Variant @DISEASE$ with additional @PHENOTYPICFEATURE$.	false
+9a3a5056b7e932b6db79835073c74db5440701dd	We recently described @PHENOTYPICFEATURE$ in @DISEASE$ patients and used mouse models to identify the underlying causes.	false
+90adef8ee2da26d14b12454086ac001f872a4f2d	Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with @DISEASE$, particularly in patients with @PHENOTYPICFEATURE$ and developmental delay.	false
+578bb3e259e973a03d15eff9e98c02112b1194e9	Our findings in a mouse model of @DISEASE$ indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with @PHENOTYPICFEATURE$ and developmental delay.	false
+654dd1a0db6411a981b8a175d51a9b514a743ee7	Finally, we report @PHENOTYPICFEATURE$ in 35% of @DISEASE$ patients with a proven CHD7 mutation.	false
+f3c487c55137296a0af079c6436639c35a89b43f	@PHENOTYPICFEATURE$ in @DISEASE$: clinical and molecular characterization of 18 unrelated Korean patients.	false
+40a566df39c6c29905de36e0203a7e10bf3093ef	Considering its frequency among patients with CHD7 mutations, @PHENOTYPICFEATURE$ may be a clinical diagnostic clue of @DISEASE$, although it is not included in the diagnostic criteria.	false
+318e544c9150e0d655b49e17de034dfc6754c13e	The mechanisms underlying the neurodevelopmental deficits associated with @DISEASE$, which include @PHENOTYPICFEATURE$, developmental delay, coordination problems, and autistic features, have not been identified.	false
+7a070ee0f3ce269aec9949c25145c70b3a00d076	The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of @DISEASE$, developmental delay and intellectual disability, and @PHENOTYPICFEATURE$.	false
+aa72c05e6cf662ce4ddc34ce5133dde66b99fba7	Deregulated FGF and homeotic gene expression underlies @PHENOTYPICFEATURE$ in @DISEASE$.	false
+da4d49a6bf062c7e76dac06718d1e0bda1662ef5	@DISEASE$ is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, @PHENOTYPICFEATURE$ and Ear anomalies.	false
+0e706a54ed095db2eb894719f747db58f28c363e	We previously identified @PHENOTYPICFEATURE$ and abnormal cerebellar foliation in individuals with @DISEASE$.	false
+8768879d6ede8a14e28099a1e960bb5d2d4be04f	The review of the data available in the literature traces the pathogenetic association of chronic fetoplacental insufficiency (CFPI) with the mechanisms responsible for cardioplacental circulation, hypoxic @PHENOTYPICFEATURE$, and @DISEASE$.	false
+dc0ec29eb8ecef5fcb9093b1fac889622484fc9d	The following perinatal factors were associated with increased survival: increased birth weight and gestational age, intrauterine growth retardation, antenatal steroids, absence of @DISEASE$, and absence of @PHENOTYPICFEATURE$ or clinical signs of intraventricular hemorrhage.	false
+fb41a4097de991f840d63c29283cccf0a79b1799	Of the asphyxiated neonates, growth retardation, hypothermia, @DISEASE$, and @PHENOTYPICFEATURE$ were significantly associated with an increased risk of death.	false
+dd3d396048a280f5b86c85ca6228cc71ff1ac694	Main outcome parameters included presence and severity of @DISEASE$ (IRDS), duration of ventilation, bronchopulmonary dysplasia at 36 postmenstrual age and neurological morbidities (@PHENOTYPICFEATURE$, intra-/periventricular hemorrhages-I/PVH, periventricular leukomalacia-PVL).	false
+dd4dc1c1727793e54a3f01d788606c0eb104293d	Hypoglycemia, on the other hand, may result in maternal @PHENOTYPICFEATURE$ or seizures and, when frequent, has been associated with @DISEASE$.	false
+70d847040151e4f563df786a51443dd20a4673c9	Hypoglycemia, on the other hand, may result in maternal coma or @PHENOTYPICFEATURE$ and, when frequent, has been associated with @DISEASE$.	false
+bbc83ccf4f4d74499321b27cfbe7a6f77fcc51c9	@DISEASE$: a cause of progressive hearing @PHENOTYPICFEATURE$.	false
+05433984415014a093f2a9a19055924460df1e93	@DISEASE$: clinical evolution of @PHENOTYPICFEATURE$ and vertigo in three patients.	false
+cbffc0211bcc0d1cdca136293f052e0225c8b1fb	Patients with @DISEASE$, the archetypal inner ear @PHENOTYPICFEATURE$, were also examined and used for within-cohort comparison.	false
+a14b8f0e04b44a61e2f1c8747472fb68b851a5dc	[A case of @DISEASE$ with aseptic meningitis and @PHENOTYPICFEATURE$].	false
+2d793575517a4c6b20b4acb5ac547c26162f25ff	We describe the 35-month course of @PHENOTYPICFEATURE$ in a teenaged boy with @DISEASE$.	false
+efe6a6dd6244267aced3811077ad309068983fa7	Non-luetic interstitial keratitis, @PHENOTYPICFEATURE$ and vertigo characterize @DISEASE$.	false
+3ebb5c4f95fe998899c899070d47f67cabc71f9c	Atypical @DISEASE$ associated with sudden @PHENOTYPICFEATURE$ and glucocorticoid response.	false
+7b16efedd845e2e1437bab54610f8e7547f609b9	This paper presents the case of a young woman suffering from @DISEASE$ and sudden, bilateral @PHENOTYPICFEATURE$.	false
+02448982a74758ec1b63fabda15b08ff750041b9	@DISEASE$: a treatable cause of neurosensory @PHENOTYPICFEATURE$.	false
+61062b6dcf242da31c33946d4079ce6a167e11b3	In a teenager with @DISEASE$, the severity and course of @PHENOTYPICFEATURE$ showed interaural differences.	false
+d870122bff04a15649c67beaf4e90f3f5eb68243	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+f7ad5d6d835a9fae9f9493a49c174995774692fc	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular @DISEASE$ phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+d952596d8da0dfd574504c7564c31ac81e249c16	@DISEASE$ (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than @PHENOTYPICFEATURE$, reported in up to 20% of cases according to one older study.	false
+796f42dfa1062124270c03281bf23f6925e4affa	A 13-year-old boy had cup-shaped ears, @DISEASE$ choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, @PHENOTYPICFEATURE$, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy.	false
+2155c520c423f54ba27239c0f48b39367ebf0d30	Clinical reasoning: a 62-year-old woman with @DISEASE$ @PHENOTYPICFEATURE$, and episodes of numbness.	false
+849a84b3670c6b4bb64498e7c0ad2c85da3a073b	To our knowledge, this is the first report of a possible association between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4ab1e644e4a4caf8543b22e44d465bc39bc9b271	Familial @DISEASE$ associated with adrenocortical insufficiency, alacrima, and @PHENOTYPICFEATURE$.	false
+16d88dd752d4d6c6d10f82c2dfe2b281e66abeb3	@PHENOTYPICFEATURE$ and @DISEASE$ in childhood: a possible correlation?	false
+2d30a8db17d4e01e4f094836e60a87288374176b	We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Mobius syndrome but also those described, among others, under names such as aglossia-adactylia syndrome, gloss-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, @PHENOTYPICFEATURE$/lateral synechiae syndrome, and the @DISEASE$.	false
+2ff761ae324b4d13bae726f3a7a20d3404c94f98	A case of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+48e9590b0a38d0810c7ecc479bec22c3d0d829e3	Progressive @PHENOTYPICFEATURE$ epilepsy and @DISEASE$ associated with mutations in the tRNA(Ser(UCN)) gene.	false
+4ad34b49a5a1e74db38f538b38cf0120c8bc2b28	Severe recessive @DISEASE$ caused by FBXL4 gene mutations may present prenatally with polyhydramnios and @PHENOTYPICFEATURE$.	false
+e3ba1d2f7b48f100eb80925b8e315de338fa5215	[@PHENOTYPICFEATURE$, optic atrophy, epilepsy, myoclonus and @DISEASE$: a case report (author's transl)].	false
+7c754f04ba4d41a61e328809b38a0d546e1016aa	Myocardial flow regulation in people with @DISEASE$, encephalopathy, lactic acidosis, stroke-like episodes/@PHENOTYPICFEATURE$ epilepsy and ragged red fibers and other mitochondrial syndromes.	false
+f13beeb8635bcf29958e3117eee3418c28024b1b	@DISEASE$ and @PHENOTYPICFEATURE$ epilepsy.	false
+48bc7637144af97706ff2bb0b31008a7c823b2d7	Severe @PHENOTYPICFEATURE$ epilepsy and @DISEASE$.	false
+16f5d2045bea187e5491d8e6d9b17227e98e75a4	The clinical symptoms of patient A included @PHENOTYPICFEATURE$ and exercise intolerance due to a severe @DISEASE$ associated with a 92% reduction in mtDNA.	false
+e810704ef9154300316aa193346d2fb19c0abfd8	@DISEASE$ is a common clinical phenotype, which is characterized by early fatigue and/or fixed @PHENOTYPICFEATURE$; rhabdomyolysis can seldom occur.	false
+4ea8b7591ca0cdc2f5199f6ff64fce7413528aff	To present a child born with both @DISEASE$ and @PHENOTYPICFEATURE$, outlining medical complications of this dual diagnosis-the first reported case in English literature.	false
+7ea3b3e35fbc63dfe675803914d9b4ffb7165aa6	All other case series and case reports describe dermatoglyphics in various kidney disease such as acro-renal-ocular syndrome, potter syndrome, kabuki makeup syndrome, @DISEASE$, @PHENOTYPICFEATURE$ type V, ring chromosome 13 syndrome, trisomy 13 syndrome and sirenomelia.	false
+c9ef5dfd784416ddbd698beb72db66a6c7943b37	Depressive symptoms, @PHENOTYPICFEATURE$ and functional impairment in a rural elderly population in India: a Hindi version of the geriatric depression scale (@DISEASE$-H).	false
+e2ce8f048f655a683c494897c440996bcaee7a18	From these, 58.7% presented @PHENOTYPICFEATURE$ (MMSE) and 45.2% depressive symptoms (@DISEASE$).	false
+987424dffdf930c0dff571bee1461e4ead3dc9df	@PHENOTYPICFEATURE$ was present in 14 patients with GDS ? 11 (39%) and in 21 with @DISEASE$ < 11 (31%; p = 0.41).	false
+e6e28fdd2f0eb7f7741e01662a89ba23fb648aef	Standardized examination of global functional deterioration (@DISEASE$), @PHENOTYPICFEATURE$ (MMSE) and behavioural or psychotic symptoms (Behave-AD) were performed over two years.	false
+8b63dd0b2db4cd0118e49478566357694fcdd103	@PHENOTYPICFEATURE$ was defined as a global deficit score (@DISEASE$) > or = 1.0.	false
+2147c6e2ec478141647d5580f8a35180d85a8ba6	NCAM was measured in the sera of 70 control subjects and 43 DAT patients (with different severity of @PHENOTYPICFEATURE$, @DISEASE$), employing Western blot and densitometric quantification.	false
+c539a007da388565e0162240bca5d08e8602dad4	The MDS suggested greater depression among those with @PHENOTYPICFEATURE$, whereas the @DISEASE$ suggested a more severe depression among those with better cognitive functioning.	false
+5f106ac36fb6f0dd902479802a672c4a0be813c4	Baseline @PHENOTYPICFEATURE$, functional disability, and other chronic illness were significantly associated with both increasing @DISEASE$ scores and depressive symptoms.	false
+fcbdb9cf46377e5d508840889b85d652d7642eaf	@PHENOTYPICFEATURE$ was defined using the Frascati criteria, global deficit score (@DISEASE$) and multivariate normative comparison (MNC).	false
+faac0d8e5a57547be732bbc24493fec7ad87c9cf	The Short Portable Mental Status Questionnaire (SPMSQ) and the Geriatric Depression Scale (@DISEASE$) showed mild @PHENOTYPICFEATURE$ and mild depression.	false
+bfc72b8e8f3f36f87fdf425b0007917a6fbb7525	Adult-onset metachromatic leukodystrophy (@DISEASE$) often shows schizophrenia- or encephalopathy-like symptoms at an early stage, such as behavioural abnormalities, @PHENOTYPICFEATURE$, mood disorders and hallucinations.	false
+fee044542347086fd1a9a8ae55642a7ce8d8680a	Adult-onset @DISEASE$ (MLD) often shows schizophrenia- or encephalopathy-like symptoms at an early stage, such as behavioural abnormalities, @PHENOTYPICFEATURE$, mood disorders and hallucinations.	false
+791ce1883629a7786b56f700993d031974afc648	Results: With the increase in @PHENOTYPICFEATURE$ volume, the V5, V20 and @DISEASE$ presented quadratic equation curve, and AVS5 presented logarithmic equation.	false
+455a971ba4086a612dffefc94dfc18296889f0dc	In addition, only the @DISEASE$ procedural deficits group showed these @PHENOTYPICFEATURE$; the LA group was no different than the typical achievers.	false
+0b8dba53f33dfe2b08b5139d5d823295fbaaf749	Biliary disease should be considered in children with @DISEASE$ who develop @PHENOTYPICFEATURE$, and cholecystectomy should be considered for persistent, symptomatic gallbladder abnormalities.	false
+ec03ebe98c7fb70f1432ae636a57cbc263bf5b99	Limits on mean lung dose (@DISEASE$) allow for individualization of radiation doses at safe levels for patients with @PHENOTYPICFEATURE$.	false
+bd70f93cd4c8827bb7bea1c3eed14594c4986bc6	With the mean lung dose (MLD) as an estimator for the normal tissue complication probability (NTCP) of the lung, we assessed whether the probability of tumor control of @PHENOTYPICFEATURE$ might be increased by dose escalation in combination with a reduction of field sizes, thus increasing target dose inhomogeneity while maintaining a constant @DISEASE$.	false
+62c83ac8fd21e54f84d1bb8251cb5bfe4092d45f	With the mean lung dose (@DISEASE$) as an estimator for the normal tissue complication probability (NTCP) of the lung, we assessed whether the probability of tumor control of @PHENOTYPICFEATURE$ might be increased by dose escalation in combination with a reduction of field sizes, thus increasing target dose inhomogeneity while maintaining a constant MLD.	false
+e5e1a6fff4460b0e3be85d67e7102e064c4af49a	Clinical presentation of psychomotor regression was more common in infantile @DISEASE$ (75%), whereas gait difficulty (62.5%) and @PHENOTYPICFEATURE$ (37.5%) were more frequent in juvenile MLD.	false
+d1b51c6b7e7f7f92f5065cc4a4b715a8e3b2fddf	Clinical presentation of psychomotor regression was more common in infantile MLD (75%), whereas gait difficulty (62.5%) and @PHENOTYPICFEATURE$ (37.5%) were more frequent in juvenile @DISEASE$.	false
+034c29a8f11a61dd2edd337acb2e7afc9ef4afbc	Conclusion: With the increase in @PHENOTYPICFEATURE$ volume, the change in rule of V5, V20, @DISEASE$ and AVS5 is not completely equivalent.	false
+a09c85e94a35b4edaf0a4138ff250d1c7bdeea75	Enzyme replacement improves @PHENOTYPICFEATURE$ and central nervous system histopathology in a mouse model of @DISEASE$.	false
+e5673c6a30ecb2e82c3a8c71106cf2a045065286	We present a histologic and ultrastructural description of these alterations in a 5-year-old girl with @DISEASE$ who presented with @PHENOTYPICFEATURE$ and feeding intolerance.	false
+a44f6953de63f3ca9c7f1a0c6cfc8abde36691bb	Current goals of research in this field are to localize the gene(s) that predispose to familial prostate cancer and to identify the molecular alterations related to @PHENOTYPICFEATURE$ progression in sporadic and @DISEASE$.	false
+5fdc1c2b53709a7af436fc74677b27856c9fd90b	Current goals of research in this field are to localize the gene(s) that predispose to @DISEASE$ and to identify the molecular alterations related to @PHENOTYPICFEATURE$ progression in sporadic and familial prostate cancer.	false
+75e25ccc7c9c20cd9dca39218140b52693001f68	Alternatively it may be concluded that the common epidemiological features of @DISEASE$ are not useful to tell @PHENOTYPICFEATURE$ that are based on inherited susceptibility apart from those that are not.	false
+ec0663585249f1276aeb82a2eaa2aed615d10b14	ARLTS1 is a recently characterized @PHENOTYPICFEATURE$ suppressor gene at 13q14.3, a region frequently deleted in both sporadic and @DISEASE$ (PCa).	false
+6df61d0ce2015ba30f15765431452a0f0702d803	RNASEL is thought to be a susceptibility gene for @DISEASE$ and encodes the endoribonuclease RNase L, which has a role in apoptosis and is a candidate @PHENOTYPICFEATURE$-suppressor protein.	false
+c3bb689774c85fc7101a2260ec8a11d43fa40730	Distributions of @PHENOTYPICFEATURE$ grade, symptoms at diagnosis and initial therapy were similar in @DISEASE$ cases and controls.	false
+e5427fa1a83eb8fa663f3aa133a75ecefbf78c80	This is the first documented case of an established human prostate cancer cell line from primary @PHENOTYPICFEATURE$ of a @DISEASE$ patient.	false
+f93971b26a1c39576fffb54c67aa8b73a5974c72	Research into molecular and genetic mechanisms underlying @DISEASE$ would be greatly advanced by in vitro models of prostate tumor cells representing primary @PHENOTYPICFEATURE$.	false
+f3c99afec291556d2967c6470911306a8358137d	To determine whether the HPC2/ELAC2 gene demonstrates significant LOH in sporadic and @DISEASE$, paired @PHENOTYPICFEATURE$ and normal DNA samples were isolated using microdissection techniques from 44 radical prostatectomy specimens.	false
+5ee4fcccb8e873d80122ffbcafe57ffeea4ef1a0	We have successfully established an immortalized human prostate epithelial cell culture derived from primary @PHENOTYPICFEATURE$ of @DISEASE$ patients with telomerase.	false
+fc9cbe4180ea266a7650474f68baebb9847a40db	Further linkage studies in combination with @PHENOTYPICFEATURE$ analyses from linked families are in progress to identify the putative @DISEASE$ gene at 16q23.	false
+e65c5f569646fa077ef80efecf2320e6d5405216	SAH patients developing @PHENOTYPICFEATURE$ have a lower blood volume than do those without @DISEASE$ and are hypovolemic.	false
+983ef9538a544466097b4f0fd5232ca25fd3161b	Patients sustaining an ST-segment elevation myocardial infarction (STEMI) frequently develop pulmonary congestion or @PHENOTYPICFEATURE$ (@DISEASE$).	false
+63a91e61ce8aeb779c1105c1e1e28ef7befa19b5	@PHENOTYPICFEATURE$ (@DISEASE$) is a severe complication after aneurysmal subarachnoid hemorrhage (SAH).	false
+75de06bdc2a9ede6efef20d07b2771c026c29950	A 70-year-old woman in generally good health, except for mild @DISEASE$ edema, developed acute @PHENOTYPICFEATURE$ after ingesting hydrochlorothiazide 12.5 mg for the first time.	false
+7a3e8cf2e1bec1ec9bc1d9ba23b72807476e59d7	ANKH mutations have been reported in inherited human disorders such as @DISEASE$ disease (CPPD) and cranial @PHENOTYPICFEATURE$; however, research into the function of the ANKH protein has been more challenging.	false
+eab9dfe83a8ae5bc641ce7f7558b8f773faf9b0b	Ambiguous genitalia associated with @PHENOTYPICFEATURE$, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (@DISEASE$).	false
+7c92ee4e87a487f7034ba08e1f62a9bc8421a9c5	It is proposed to call this disorder the @DISEASE$ (@PHENOTYPICFEATURE$, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).	false
+cc5fcfb67345e5afca22cfead262262cfdb40407	Examples include antigranulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies and pulmonary alveolar proteinosis; anti-interferon (IFN)-? autoantibodies and disseminated nontuberculous mycobacteria (NTM); anti-interleukin-(IL)-6 autoantibodies and severe staphylococcal @PHENOTYPICFEATURE$; anti-IL-17A, anti-IL-17F, or anti-IL-22 autoantibodies in patients with mucocutaneous candidiasis in the setting of both the @DISEASE$ (APECED) syndrome and in cases of thymoma.	false
+5b0538952bedda2293113f956b847b2a16c87776	Examples include anti-interferon (IFN)-? autoantibodies and disseminated nontuberculous mycobacteria; anti-granulocyte macrophage colony-stimulating factor autoantibodies and cryptococcal meningitis; anti-interleukin (IL)-6 autoantibodies and staphylococcal @PHENOTYPICFEATURE$; and anti-IL-17A, anti-IL-17F, or anti-IL-22 autoantibodies and mucocutaneous candidiasis in the setting of either APECED (@DISEASE$) or thymoma.	false
+231e97b5bc0ec9b147feff304e1ade4fc7459e32	@PHENOTYPICFEATURE$ was mainly confined to patients with @DISEASE$ or AIDS.	false
+a7b7c57b763faa58a62de5598e4da0963caf5ddb	We used these techniques to investigate two Norwegian families with an @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+99c6b6d33c75bdff41c22e4963e2da242ec8f56e	We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sj?gren syndrome, an @DISEASE$ complicated by @PHENOTYPICFEATURE$, developmental delay and myopathy.	false
+9118a4d6e7d772654ec9f5293902247ba80dc2ae	@DISEASE$ type I, also known as recessive ataxia of Beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild @PHENOTYPICFEATURE$, and diffuse cerebellar atrophy on brain imaging.	false
+01ae936fe55a22f91824a35c858748ddb1bda560	One of the families was originally diagnosed with Marinesco-Sj?gren syndrome based on an @DISEASE$ with @PHENOTYPICFEATURE$ and mental retardation.	false
+20a0d080ca78e249e98a23b134a5d7d3d7c89489	Marinesco-Sj?gren syndrome is an @DISEASE$, characterised by cerebellar ataxia, myopathy, @PHENOTYPICFEATURE$ and intellectual disability, due to mutations in the SIL1 gene.	false
+b33969272e7a7d44a93cdf859aad0cfa6386fb46	At initial biopsy, only 50% of the AIDS/@DISEASE$ patients with EFH/mixed compared to 100% with FI/LD were symptomatic with @PHENOTYPICFEATURE$, night sweats, diarrhea, fever, or fatigue.	false
+cc1180f314914a114a8f7e6cac58f1a96fe890e3	The anterior lens capsule specimens from 360 normal human donor eyes (age 19-91 years) were divided into three groups: group A of young lens (younger than age 49 without @PHENOTYPICFEATURE$), group B of old but normal lens (older than age 50 without cataract), and group C of ARC lens (older than age 50 with @DISEASE$).	false
+a73623c9a8a0b3fd13857e81b248a20bdba254b3	The anterior lens capsule specimens from 360 normal human donor eyes (age 19-91 years) were divided into three groups: group A of young lens (younger than age 49 without cataract), group B of old but normal lens (older than age 50 without @PHENOTYPICFEATURE$), and group C of ARC lens (older than age 50 with @DISEASE$).	false
+f32794ccccf769092870ef609dbc5fa0ceef5929	Visual functions (including visual acuity, visual evoke potential, and contrast sensitivity), the Mini-Mental State Examination and functional magnetic resonance imaging (including the fractional amplitude of low-frequency fluctuations and grey matter volume variation) were assessed for all the participants and reexamined for @DISEASE$ patients after @PHENOTYPICFEATURE$ surgery.	false
+b2f4dfa9672927eed0f7b5c6eb7c561e7fddad32	The results show that WRN-rs11574311 was initially associated with @DISEASE$ in general, cortical, and mixed @PHENOTYPICFEATURE$ (P = 0.003, odds ratio [OR] = 1.49;	false
+157a91d22339bf6875d2fde826029a60e76462d4	Histology graded on @PHENOTYPICFEATURE$, inflammation, vacuolization, and necrosis showed greater injury in the @DISEASE$ mouse.	false
+92bd43f5764c685bc57512a7c9f3a4f264327e24	Rapid liver volume increase induced by associating liver partition with portal vein ligation for staged hepatectomy (@DISEASE$): Is it @PHENOTYPICFEATURE$, steatosis, or true proliferation?	false
+5b331a6b6f41b5f7cd2c6cadd8b7762c3cd3e6b2	Humans with germline SHP-2 mutations develop Noonan syndrome or @DISEASE$, which are characterized by cardiovascular, neurological and @PHENOTYPICFEATURE$.	false
+9733cea486fa3a8932e135f2fba7f97875b72010	We advocate brain-imaging studies of patients with @DISEASE$ and @PHENOTYPICFEATURE$ such as developmental delay or epilepsy.	false
+f3a9c1adc571d60376e8f8d100ecc7a9a4cc327c	A 53-year-old Japanese man presented with generalized lentigines, arrhythmia, gonadal hypoplasia, endocrine abnormality, mental retardation and @PHENOTYPICFEATURE$, and was consequently diagnosed as @DISEASE$.	false
+75705d75c11d8a7adc01ce0009a3b6d10262ebde	Germline mutations of PTPN11 are causative of Noonan syndrome and @DISEASE$ in humans in which there are recognized @PHENOTYPICFEATURE$ that include growth retardation, spinal curvature and chest malformations.	false
+41ca08bc616fe7a25e9f535aeccda518da09106d	The RASopathies include NF1, Noonan syndrome, @DISEASE$, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 @PHENOTYPICFEATURE$.	false
+ed1f30db1dcdf989824eae9d01439772795b54d4	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called @DISEASE$; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and @PHENOTYPICFEATURE$, developmental delay/mental retardation, and tumor predisposition.	false
+f09e3370317253b1c6ba0fa2896bca877c206fc0	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [@DISEASE$ (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and Legius syndrome (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and @PHENOTYPICFEATURE$, developmental delay/mental retardation, and tumor predisposition.	false
+4f5931348d94694f96017127a84ec3463013bdea	A case of acute predominantly axonal motor and @PHENOTYPICFEATURE$ (AMSAN) is reported in a 16-year-old boy with @DISEASE$ (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness).	false
+40dea37cae9ba4d42b3405c0c589085c2f598cb3	The authors describe two sisters with the typical characteristics of cranio-@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0c34c56919352b7fd7eae7388ccada6733612f26	@DISEASE$ with maxillary hypoplasia and @PHENOTYPICFEATURE$ is caused by a duplication in RUNX2.	false
+e7a31b0c4b19643f9549b24e412c9115ddb5fe1a	@DISEASE$ with maxillary hypoplasia and @PHENOTYPICFEATURE$.	false
+409bb79a92cc9514ab205e92126d66422ada65d4	DMC is characterized by the association of a spondylo-epi-@DISEASE$ and @PHENOTYPICFEATURE$.	false
+c505a5dddad58199b49c3f524779b5d92c8ca262	@DISEASE$ with maxillary hypoplasia and @PHENOTYPICFEATURE$ in  a Finnish woman: first confirmation of a duplication in RUNX2 as  pathogenic variant.	false
+8cba9e148e5ec60f3a263934150bfff3c13c622a	@DISEASE$ with maxillary hypoplasia and @PHENOTYPICFEATURE$ (MDMHB) is an autosomal-dominant bone dysplasia that until now has only been reported in French Canadian individuals.	false
+e1619c1755c13eced6ce94daf31b7bdd16b9bb50	In addition, both showed short statue (-2.1 and -2.5 SD), progressive retinal dystrophy, and @DISEASE$ (cone-shaped metaphysis and metacarpal @PHENOTYPICFEATURE$).	false
+585e69d31b8b7d8a58b21a5b59e1c280f4daff2a	Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-@DISEASE$ with cono-@PHENOTYPICFEATURE$ and craniosynostosis.	false
+5caa9ce9bb21375e0bb930cb1dcc835c9977de94	A three-generation family with @DISEASE$, maxillary hypoplasia and @PHENOTYPICFEATURE$ (MDMHB) due to intragenic RUNX2 duplication.	false
+1c34ecb0b9d9ca34af2018459de1c88bd157780c	@DISEASE$ with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable @PHENOTYPICFEATURE$, and dystrophic teeth.	false
+ad01bfe0515c2e75a83c64d652e4ca89489488dd	@DISEASE$ with maxillary hypoplasia and @PHENOTYPICFEATURE$ (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth.	false
+36aba684efb5fc979e92cb5c2b0d603bd901f499	According to the available data, this is a very rare case of small intestinal @DISEASE$, with symptoms of @PHENOTYPICFEATURE$ and giant abscess in the liver hemangioma.	false
+2a24737aadbff398462bfc782189936838785065	We assessed prescription patterns for four top-selling orphan drugs: lidocaine patch (Lidoderm) approved for post-herpetic neuralgia, modafinil (Provigil) approved for narcolepsy, cinacalcet (Sensipar) approved for @PHENOTYPICFEATURE$ of parathyroid carcinoma, and imatinib (Gleevec) approved for chronic myelogenous leukemia and @DISEASE$.	false
+af61cf2da52c20d6f12708e87d6824417aae4327	We present the case of a small @DISEASE$ in a 40-year-old man, with associated giant liver hemangioma and @PHENOTYPICFEATURE$, and with history of abdominal discomfort and fever.	false
+c36c0354d06c502b16e1dee4497f94abb3a3fbdf	In terms of the histological picture, @DISEASE$ is a benign @PHENOTYPICFEATURE$ having a very complicated structure.	false
+54f946df81274b6c771e1c7c3c8c7996c62b5d08	This @DISEASE$ @PHENOTYPICFEATURE$/normal LGI ratio may be a new predictive biomarker for distant recurrence of curatively resected colorectal cancer.	false
+fd4e3bc357afb067c0ea6acb6a8507fd9d95e7e2	In the present chapter we report our recent findings in adult @DISEASE$ patients and compare the psychophysical and speech perception outcomes in @PHENOTYPICFEATURE$ with those in nontumor patients.	false
+07965d3ee35e41e7f36e66fb393cf748c5a87ba5	The Antley-Bixler syndrome (@DISEASE$) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, @PHENOTYPICFEATURE$, urogenital abnormalities and, often, early death.	false
+93e091a393eb3ee29ce3d2fd7189d627fb955624	Dosimetry of (125)I and (103)Pd COMS eye plaques for intraocular @PHENOTYPICFEATURE$: report of Task Group 129 by the AAPM and @DISEASE$.	false
+1577261187905b1c34f21e10a53732890892de24	We tested the hypothesis that the cortical areas with abnormal local EEG synchronization are dissimilar in the three common idiopathic generalized epilepsy (IGE) phenotypes: IGE patients with absence seizures (@DISEASE$), juvenile @PHENOTYPICFEATURE$ epilepsy (JME) and epilepsy with generalized tonic-clonic seizures exclusively (EGTCS).	false
+f275de0287324ed3f397477efe9bd6a128e13f60	Conclusion?Retrosigmoid craniotomy is a safe and effective means to provide access to the cochlear nucleus for @DISEASE$ placement following @PHENOTYPICFEATURE$ resection in the adult NF2 patient.	false
+484ba4ffa4cdf98a2f41f1eb94bc26215c0d2b0e	There is no correlation between the performance with @DISEASE$ and the @PHENOTYPICFEATURE$ size or the duration of deafness.	false
+33fd20220d8a97b27f457296305eb39b7dfc9c09	This paper demonstrates the results of eight out of 11 patients with NF2, seven of whom received an @DISEASE$ after @PHENOTYPICFEATURE$ removal.	false
+c107df5f48e8d4ef55a935a54ca4c55640938382	Factors associated with poor clinical outcomes for NF2 @DISEASE$ patients include larger @PHENOTYPICFEATURE$ size, longer duration of hearing loss, and brainstem distortion and/or deformation caused by tumours that compress the brainstem.	false
+0417719b8f29225e63f5e9f5a91d46f91d891875	Factors associated with poor clinical outcomes for NF2 @DISEASE$ patients include larger tumour size, longer duration of hearing loss, and brainstem distortion and/or deformation caused by @PHENOTYPICFEATURE$ that compress the brainstem.	false
+7da6497e1ea0b2706b340056933e022677438e45	Given a paucity of studies characterizing the effects of HTLV-1 on the autonomic nervous system, particularly aspects controlling continence, this patient's clinical course may represent one type of end point for patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2b17c45bc5800e8e2800948b5f4b509cde897d51	Five confirmed and documented cases of patients with @DISEASE$/HAM in Rio Grande do Sul are reported; in all of them spastic paraparesis, @PHENOTYPICFEATURE$ and superficial and/or profound sensitive disorders were observed in variable degrees.	false
+0e36dc4253bea78709955457b0060134f6c7c53d	Our results indicate that both @DISEASE$ and TGF-beta promoted @PHENOTYPICFEATURE$ cell attachment and spreading in the presence of plasminogen.	false
+40e4191158d4b7be9b8786920207b2df4bdb3f57	These results suggest that @DISEASE$ may promote tumor cell metastasis not only by promoting cell-attachment but also by protecting @PHENOTYPICFEATURE$ cell-fibrin emboli from degradation by tumor secreted- and host fibrinolytic enzymes.(ABSTRACT	false
+c33ad842bb911a59409d527a9479b35ab14a73d4	These results suggest that @DISEASE$ may promote @PHENOTYPICFEATURE$ cell metastasis not only by promoting cell-attachment but also by protecting tumor cell-fibrin emboli from degradation by tumor secreted- and host fibrinolytic enzymes.(ABSTRACT	false
+7f1895f2d13e6a2bcbf5ec59ded8d0e43c997b06	These results suggest that @DISEASE$ may promote tumor cell metastasis not only by promoting cell-attachment but also by protecting tumor cell-fibrin emboli from degradation by @PHENOTYPICFEATURE$ secreted- and host fibrinolytic enzymes.(ABSTRACT	false
+9c1ee925f2bd68516adf63126e46aa99599cabeb	Overexpression of only the C-terminal half region of ADAMTS-1, consisting of @DISEASE$ type I motifs and the spacer region, suppressed Chinese hamster ovary (CHO) @PHENOTYPICFEATURE$ growth in mice.	false
+f9cd142b20ec19c183850de9bb9ba1332870ab9f	Patients with @DISEASE$-1-negative tumors had a significantly worse prognosis than did those with TSP-1-positive @PHENOTYPICFEATURE$.	false
+c6637df896677ef4007c00625535067aec5ff0f9	Patients with @DISEASE$-1-negative @PHENOTYPICFEATURE$ had a significantly worse prognosis than did those with TSP-1-positive tumors.	false
+269a93205cdd940c2f34fcd5d43024064c68ccec	Patients with TSP-1-negative tumors had a significantly worse prognosis than did those with @DISEASE$-1-positive @PHENOTYPICFEATURE$.	false
+32dd573d5105865d581758ab012843bac0ebfe9b	Patients with TSP-1-negative @PHENOTYPICFEATURE$ had a significantly worse prognosis than did those with @DISEASE$-1-positive tumors.	false
+7f644b85f9bf069fe35412431ad7b646490eb2a1	We observed suggestive evidence that exposure to ambient air pollution throughout life, measured as @DISEASE$ and TE, may be associated with DNA methylation of some @PHENOTYPICFEATURE$ suppressor genes in breast tumor tissue.	false
+611dc467a9d6a73254d71d777548588b60ade15c	Systemic low-dose continuous treatment of a rat prostate cancer model with cyclophosphamide and paclitaxel induced the expression of @DISEASE$ in tumour tissue and inhibited @PHENOTYPICFEATURE$ growth.	false
+c0e0e2d55a6eb9cb168500a3878fc9f683a032fe	Systemic low-dose continuous treatment of a rat prostate cancer model with cyclophosphamide and paclitaxel induced the expression of @DISEASE$ in @PHENOTYPICFEATURE$ tissue and inhibited tumour growth.	false
+08437429d7bbb50da41a4878b7103df4f3805973	The MVD counts (mean+/-S.D.=9.0+/-4.9) in @DISEASE$-1-H @PHENOTYPICFEATURE$ was significantly lower than that (mean+/-S.D.=12.7+/-4.4) in TSP-1-H tumors (P=0.0065).	false
+b38d5dc0ff595d4ec446223074810482d1f375d3	The MVD counts (mean+/-S.D.=9.0+/-4.9) in TSP-1-H @PHENOTYPICFEATURE$ was significantly lower than that (mean+/-S.D.=12.7+/-4.4) in @DISEASE$-1-H tumors (P=0.0065).	false
+080c3525796d9a725adb38ac175a6ab755b00f2b	The MVD counts (mean+/-S.D.=9.0+/-4.9) in @DISEASE$-1-H tumors was significantly lower than that (mean+/-S.D.=12.7+/-4.4) in TSP-1-H @PHENOTYPICFEATURE$ (P=0.0065).	false
+09de0c1a8de7a31a4c3aa6df01c19db83087d6d7	The MVD counts (mean+/-S.D.=9.0+/-4.9) in TSP-1-H tumors was significantly lower than that (mean+/-S.D.=12.7+/-4.4) in @DISEASE$-1-H @PHENOTYPICFEATURE$ (P=0.0065).	false
+bf523a97f7ffecfb958be3dea4b08b8b613fedb1	However, about 3-5% of HTLV-1-infected individuals develop an aggressive T-cell @PHENOTYPICFEATURE$ (ATLL) or a neurodegenerative disease (@DISEASE$/HAM) after a latency period ranging from years to decades.	false
+06e47f8af94b36aefc1ec124b2fa8fc94d5c868e	We report here that skeletal-muscle-specific YY1 knockout (YY1mKO) mice have severely defective mitochondrial morphology and oxidative function associated with exercise intolerance, signs of @DISEASE$, and @PHENOTYPICFEATURE$.	false
+7f62a86af576bdd90b16ec5f8e854625b4beaab6	Hallmark features of MSA include progressive exercise intolerance during childhood, onset of @PHENOTYPICFEATURE$ around adolescence, basal lactic acidemia, and @DISEASE$.	false
+b39ca4750ee3a68bc745794df7a991db8f495d4d	[Spinocerebellar degeneration, @PHENOTYPICFEATURE$, epilepsy, myoclonus and @DISEASE$: a case report (author's transl)].	false
+417c46572a8494939dd56e3c74528ddeae99bdce	[Bilateral @PHENOTYPICFEATURE$ in a case of @DISEASE$].	false
+51fd003d3209d4da247395d7ee35833e38e047f1	profound mental retardation, spastic quadriplegia, ponto-cerebellar hypoplasia and progressive cerebral atrophy); (ii) @PHENOTYPICFEATURE$ and (iii) mild secondary @DISEASE$ detected by muscle biopsy and respiratory chain enzyme analysis.	false
+b40dc5a98310fbef1982bf39542b05012cc578f1	Altered mitochondria within peripheral nerves were found in most cases of @DISEASE$, in all cases of hereditary motor and sensory neuropathy with @PHENOTYPICFEATURE$ (HMSN VI) and in 25 cases out of a larger series of 280 unselected neuropathies studied by electron microscopy for diagnostic purposes.	false
+9b7f592d4a7ca6c751cee35dd0cc87c745c9763c	@PHENOTYPICFEATURE$ revealing @DISEASE$ in a 69-year-old woman.	false
+7e9ac1d226d6aabcbbccc26a838e399fae33e9d1	We report a large family with @PHENOTYPICFEATURE$ beginning in early childhood, associated with axonal neuropathy and @DISEASE$ in adult life.	false
+b3d02eb07f4d78f5f6b6da709c618682b001a611	We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, @DISEASE$, pigmentous retinitis, associated to @PHENOTYPICFEATURE$, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia.	false
+da34a40d393f9c1ba8cb30b930d3c2140dbd883b	The diagnosis of @DISEASE$ depends upon a constellation of findings, family history, type of muscle involvement, specific @PHENOTYPICFEATURE$, and the results of histological, pathobiochemical and genetic analysis.	false
+ac1048f0a932c870eb87878dcd6d5da39aa63046	Patients of yin deficiency @DISEASE$ hyperactivity syndrome had severe @PHENOTYPICFEATURE$ factors.	false
+b70af8abd17c9957dadf68639d7bfa15556da2ee	@DISEASE$ or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	false
+c964ed2e301b42c603c39caa6747dec8778d213d	Richner-Hanhart syndrome (@DISEASE$) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and @PHENOTYPICFEATURE$.	false
+cdd2a3ba2a5b501b51d1e36c61080bef08b0a06d	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	false
+0a8f9658e7b3af02b1aab439098a744f30663382	@DISEASE$ (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	false
+f2398da5ef1d2f6acd70291f43ec70e2a7474aa3	Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of @DISEASE$ such as @PHENOTYPICFEATURE$.	false
+74bf9905e09a1477ea2f280536546b9ed2a7f861	@DISEASE$ should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as @PHENOTYPICFEATURE$.	false
+9168c0135a328a540f4cfbcec9b0677261435e99	Clinical findings of @DISEASE$ include neurological symptoms and @PHENOTYPICFEATURE$ but no consistent phenotype has emerged.	false
+4dfbd95fff44d15bc034ab6cd0baf977a3df86fd	Clinical findings of @DISEASE$ include neurological symptoms and @PHENOTYPICFEATURE$.	false
+0cc6ed72cdaf8a05c78084a5ceec3d0c1b006382	It was concluded that @PHENOTYPICFEATURE$ is nonspecifically associated with brain-@DISEASE$ abnormalities, and that other nonorganic, as well as organic, factors should be taken into account.	false
+06310548b6b173f746d07bb1255ace8d31ebce06	When the score was dichotomized (0 = normal, 1 = any abnormality), it was a strong predictor of US scan @PHENOTYPICFEATURE$ with VCSS greater than 0 had a 26-fold greater chance of US @DISEASE$ abnormalities than did limbs with VCSS = 0 (OR, 26.5; 95% CI, 11-64).	false
+f8a412cb6e720400c1e229789d7d53473c59c091	In the past several years, neurologists are finding new indications to use these dietary treatments, perhaps even as first-line therapy, including infantile spasms, @PHENOTYPICFEATURE$-astatic epilepsy (@DISEASE$), Dravet syndrome, and status epilepticus (including FIRES syndrome).	false
+b723e3c693b4c12fae894639bfdea70148fc162e	The clinical and EEG pattern, the high familial incidence are shared by the @DISEASE$, of which the present series seems to be a subgroup, as are other well-defined syndromes: benign and severe @PHENOTYPICFEATURE$ epilepsies of infancy.	false
+cd1e0f4ae2496b887534f2c6a33dc68d900c192b	The subjects were 26 children with MS, including benign myoclonic epilepsy in infants (BME) in 10, severe myoclonic epilepsy in infants (SME) in 6, idiopathic @DISEASE$ (IEMAS) in 4, and juvenile @PHENOTYPICFEATURE$ epilepsy (JME) in 6.	false
+9ce35d09165ce4c35dcaeaa18f1269e2a911d008	The subjects were 26 children with MS, including benign @PHENOTYPICFEATURE$ epilepsy in infants (BME) in 10, severe myoclonic epilepsy in infants (SME) in 6, idiopathic @DISEASE$ (IEMAS) in 4, and juvenile myoclonic epilepsy (JME) in 6.	false
+ed3aca6b79163e64b52b6f5dcbc588633e3586ee	The subjects were 26 children with MS, including benign myoclonic epilepsy in infants (BME) in 10, severe @PHENOTYPICFEATURE$ epilepsy in infants (SME) in 6, idiopathic @DISEASE$ (IEMAS) in 4, and juvenile myoclonic epilepsy (JME) in 6.	false
+f30419aa281fbc305b2880bf99f14f57e64e1f45	This study analyzed: (1) the drug's efficacy by seizure and epilepsy type in a total of 1008 patients treated during the development of zonisamide in Japan; (2) the effectiveness of zonisamide for 726 newly-diagnosed patients treated with zonisamide postmarketing; and (3) 50 patients with generalized epilepsies and epileptic syndromes (idiopathic generalized epilepsies, symptomatic generalized epilepsies, Lennox-Gastaut syndrome, @DISEASE$, and West syndrome), and 19 patients with undetermined epilepsies and specific syndromes (refractory grand mal in childhood, severe @PHENOTYPICFEATURE$ epilepsy in infancy, other undetermined epilepsy, familial essential myoclonic epilepsy, and mitochondrial encephalomyopathy with ragged-red fibers).	false
+54d6e2bfdea636b6718e751c4ffa2a4d0aae387d	@DISEASE$ is characterized by @PHENOTYPICFEATURE$-atonic, absence, tonic-clonic, and eventually tonic seizures, appearing in previously normal children at ages 18-60 months.	false
+8f3bb6de844fc2e7f8b80fa1ddaf5e8f3dc0c8ce	@PHENOTYPICFEATURE$ and bevacizumab treatments are significant predictive factors of fistula formation in patients treated for recurrent @DISEASE$.	false
+f8b35b9bb8358a1ab129d486f81020074407b550	We combined data from the National Breast and @DISEASE$ Early Detection (NBCCEDP) and Well-Integrated Screening and Evaluation for Women Across the Nation (WISEWOMAN) programs in South Carolina to assess whether cancer screening outcomes in NBCCEDP impacted participation in WISEWOMAN lifestyle interventions, and whether the status of WISEWOMAN baseline risk factors (obesity, diabetes, @PHENOTYPICFEATURE$, hypertension, and smoking) determined subsequent completion of lifestyle interventions.	false
+7117ee977f2e2a9999fd6fd05e60a6d5c3a07f04	Chemoradiation with cisplatin is considered the standard of care for patients with locally advanced @DISEASE$; however, cisplatin could be difficult to use in aged patients or patients with comorbidities such as diabetes mellitus and blood @PHENOTYPICFEATURE$; hence, it is important to investigate nonplatinum drugs for radiosensitization.	false
+b0bf8f772022e72c078ecc9bf94a3b852019b8f1	Participants in this survey were subjects with primary open-angle glaucoma, normal-tension glaucoma, or ocular hypertension or @DISEASE$ who had been prescribed anti-glaucoma ophthalmic eyedrops and whose ophthalmologist considered prescribing any fixed combination of ocular @PHENOTYPICFEATURE$ eyedrops for the first time between 2011 and 2012.	false
+ba5641f3179531d02e2e5e6d296f68b9b9a49c84	To establish the role of nitric oxide (NO), ascorbic acid and @PHENOTYPICFEATURE$ necrosis factor-? (TNF-?) in the pathogenesis of @DISEASE$ (XFG).	false
+b1c812a95d9cb52261fb66acd010d16e401ebd77	This case report suggests that @DISEASE$ should be included in the differential diagnosis of neonatal @PHENOTYPICFEATURE$ and conjugated hyperbilirubinemia.	false
+932e23ec77291f3f912885ad3fbbe0b7bf6ba959	Shock due to a grave haemorrhage from AML rupture is called @DISEASE$ that is clinically characterized by the Lenk's triad: acute flank pain, a flank mass and hypovolemic shock.Other symptoms and signs may be present: haematuria, palpable mass, flank pain, urinary tract infections, renal failure or @PHENOTYPICFEATURE$.	false
+e031627df618462731667167dc14e91817287565	HCS, a relatively mild syndrome, is characterised by @DISEASE$ type I, generalised hypotonia at birth, @PHENOTYPICFEATURE$ and minor facial dysmorphic features.	false
+d75f0219f9a67e26356527e20049cc2e40088a5c	Specific problems of living kidney donation associated with certain systemic (chronic hypercalcemia due to CYP24A1 gene mutations, primary hyperoxaluria, APRT deficiency) and renal (medullary sponge kidney, @DISEASE$, distal renal tubular acidosis, Dent's disease, Bartter syndrome, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis) Mendelian disorders that cause nephrolithiasis are also addressed.	false
+ae8a2a857a19a9172e0e54d400310bf8645a0e8b	Herein we will review clinical, biochemical, metabolic and genetic characteristics of the inherited diseases which lead to nephrolithiasis/nephrocalcinosis, such as: idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, idiopathic infantile hypercalcemia, Dent disease, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis, hypocitraturia, @DISEASE$, primary hyperoxaluria and renal hypouricemia.	false
+7b665cd7ac53cc92c086fd8ff04aaa6bcf745d1e	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, @DISEASE$ and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+f8741f6c18d815ea158ffc48e9c4437a908494e6	With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of @DISEASE$ mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and @PHENOTYPICFEATURE$ in addition to cystinuria.	false
+39d014ee19034042a01ef2a6edf36ccb4ec4ad9e	With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and @PHENOTYPICFEATURE$ in addition to @DISEASE$.	false
+3300e5e7cfc1c96bc6bb1abc7323ecdad8cfec38	Clear examples of this pathway are those patient groups with @DISEASE$ or hyperoxaluria associated with bypass surgery for @PHENOTYPICFEATURE$.	false
+9da318f91d9dee08f9413a6af53f9cf1efbeaede	Adenine phosphoribosyltransferase (APRT) deficiency, @DISEASE$, Dent disease, familial @PHENOTYPICFEATURE$ with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children.	false
+cf72ad7965f4a422d42c0d7879ef157195f5f2ca	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, @DISEASE$ and mental retardation, familial @PHENOTYPICFEATURE$ with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+ecf795bd0552acc1e089e7e8e14d6a96a2c4e49a	A case of nephrotic syndrome with ascites and @PHENOTYPICFEATURE$ in a patient who had received tiopronin for the treatment of @DISEASE$ is presented.	false
+1d52940c5ae4e2f7c223c7bdf6d4d65a76bf5b6e	Patients present with generalized hypotonia at birth, failure to thrive, @PHENOTYPICFEATURE$ and @DISEASE$ type I.	false
+5bbd6e0114ead2f1287e37cddefbfcde13b542ae	This retrospective study identified cases with @DISEASE$ based upon abnormal radiographic and chondro-osseous morphological and clinical findings, as available, from the International @PHENOTYPICFEATURE$ Registry between 1987 and 2009.	false
+54f20185be1732dfe4f3ea1abb35b14a8b2a3b3b	We report a child with acute @DISEASE$ (PCH) complicated by @PHENOTYPICFEATURE$.	false
+3d3cff2f1cb3b0e92c96febc6af73f220ec87587	We were able to describe multifocal intussusceptive neoangiogenesis and vascular sprouting as the three-dimensional correlate of progressive @DISEASE$, a process dividing pre-existing vessels by intravascular pillar formation previously only known from embryogenesis and @PHENOTYPICFEATURE$ neoangiogenesis.	false
+019bf9a7d0b5950dd4e26379a102c465c547d1cd	Subjects with @DISEASE$ would benefit from regular follow-up to monitor for visual field decline and @PHENOTYPICFEATURE$ development.	false
+11de2d6fd534c2df9a987cdf5f085442696afa0a	Recent studies concerning extrapulmonary manifestations have prompted the author to upgrade the list, including cardiac and aortic thrombi as cardiovascular manifestations; erythema nodosum, @DISEASE$, and subcorneal pustular dermatosis as dermatological manifestations; acute @PHENOTYPICFEATURE$, opsoclonus-myoclonus syndrome, and thalamic necrosis as neurological manifestations; pulmonary embolism as a respiratory system manifestation; and renal artery embolism as a urogenital tract manifestation.	false
+e79b7e5e85858fdda745a074b8cd2853ca65c42f	Absence of @PHENOTYPICFEATURE$ and presence of eventration rather than diaphragmatic hernia helped to exclude @DISEASE$.	false
+111072ca19f1d52bc8df797aab694c3e7c4ef1b6	The p53 mutational profile of @DISEASE$ tumors was similar to that of non-small cell @PHENOTYPICFEATURE$ from patients within the same geographical area, supporting the idea of a common model for carcinogenesis in the upper respiratory tract.	false
+de243b6b77f4abffc2e2ee33d1759adf4c316518	Cisplatin (CDDP) chemotherapy associated with radiation (RT) has been used in advanced @DISEASE$ (HNSCC) patients, and @PHENOTYPICFEATURE$ is a common side effect during treatment.	false
+6d6a91398b89c8638423d72e6033d6b1622f8b98	Detection of synchronous @PHENOTYPICFEATURE$ in patients presenting with @DISEASE$.	false
+72b272681db1c831c37e7eda2ce667a82adc43ba	EGFR hypermethylation was also found in a subset of unselected primary breast (20%), @DISEASE$ (35%), and @PHENOTYPICFEATURE$ (11%).	false
+3cb9c9141823ba467d499ccd944e4660838b6888	@DISEASE$, pseudotumors and other @PHENOTYPICFEATURE$-like lesions.	false
+a19098a6325c917898596dad339ee121a1d1550f	The relaxation-time results indicated no significant discrimination between @DISEASE$ and pancreatic @PHENOTYPICFEATURE$.	false
+3d7364100b2b669ad4a7af6c8e9fa288a2a7b338	We present the case of a patient with rapidly progressive @PHENOTYPICFEATURE$ due to oxalate nephropathy that lead to a retrospective diagnosis of @DISEASE$.	false
+b08f28de050fdc5c47e752959539b4cba192e00c	The patient was therefore diagnosed with sclerosing @DISEASE$ (Kuttner's @PHENOTYPICFEATURE$).	false
+796d05acc063413b5d864041b913ccc1d3e64957	Possible applications include @PHENOTYPICFEATURE$ debulking and treatment of @DISEASE$.	false
+6da92cedef4f5e72489bfc5e6aaa098701cff80a	[An autopsy case of @PHENOTYPICFEATURE$ as its cause of death in a patient with primary hyperparathyroidism associated with @DISEASE$].	false
+d20ad7feaac132d0bb81be56f0e32c7d404831eb	Imitators of @DISEASE$: diffuse neuroendocrine @PHENOTYPICFEATURE$ of the pancreas.	false
+2d090037d63c4429d829ca627d75ad57b2d90275	In many rare causes leading to @DISEASE$ among other are: hypercalcaemia, @PHENOTYPICFEATURE$, some drugs and pancreatitis associated with autoimmune disorders.	false
+27f273d2c42a1bf855d53fdd6e3d6408fb410254	@DISEASE$ and @PHENOTYPICFEATURE$: correlation or coincidence.	false
+201a7e56b204e07b98cc3b8086c2545249ba084b	EUS was used to assess for @PHENOTYPICFEATURE$ and for @DISEASE$.	false
+3491ede8479867d34aea7f99fd06f3f349a2d5ad	Further studies will be needed to determine if these higher functioning children with @DISEASE$ are at increased risk for @PHENOTYPICFEATURE$.	false
+59b1f88c176e29a69af264caeb3e7f6e1a354ee2	@DISEASE$ (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of @PHENOTYPICFEATURE$ and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations.	false
+f95e61615d43c4a8b9997be585522e270802e05b	The index case is a 6-year-old male presented with distinctive facial features, cutis aplasia of the scalp, rudimentary teeth, @PHENOTYPICFEATURE$, intrauterine and postnatal growth retardation, psychomotor developmental delay, speech delay, epilepsy, inguinal hernias and @DISEASE$.	false
+cec571c330e017e358e574ae9647779a1135e88b	Patients present with generalized hypotonia at birth, @PHENOTYPICFEATURE$, growth retardation and @DISEASE$ type I.	false
+1f45ace78da29de7c5434fb2e996f38bf581e041	Genetic defects in the enzymes regulating sulfur pools produce a variety of human pathologies, including homo- and @DISEASE$, homo- and cysteinemia, and @PHENOTYPICFEATURE$.	false
+28c3ca29500ffef06c70afaa6abf5404d55d98fb	Here we report on an 11?-year-old child with myopia, @DISEASE$, bilateral mixed hearing loss, @PHENOTYPICFEATURE$ including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement.	false
+a0e6171e32371f47956f1241ef3d2dd86a44736a	In general, the association of the abnormal lacrimation and eye movement disorder in unilateral cases was ipsilateral, while in bilateral cases the abnormal lacrimation and the @PHENOTYPICFEATURE$ were also bilateral except 3 cases of bilateral DRS with monocular crocodile tears and one case of unilateral @DISEASE$ with binocular crocodile tears.	false
+2c2a7393776b637df8727e0fba5b9013a5d0e7e1	In general, the association of the abnormal lacrimation and eye movement disorder in unilateral cases was ipsilateral, while in bilateral cases the abnormal lacrimation and the @PHENOTYPICFEATURE$ were also bilateral except 3 cases of bilateral @DISEASE$ with monocular crocodile tears and one case of unilateral DRS with binocular crocodile tears.	false
+383d93bb480c41aaaad2b904342b0b65cd5e5569	@DISEASE$ and congenital upper-@PHENOTYPICFEATURE$.	false
+b813731b6dafa4f502109eb4aad67fc992d15622	Impaired indices of subclinical peripheral primarily @PHENOTYPICFEATURE$ were present among one third of Type 1 DM children and adolescents, with no impact of diabetes @DISEASE$ or glycaemic control.	false
+063286f9b0c0fd3383fbf33142e8e889c59f138c	In multivariable analysis of both phases and pooled data, diabetes @DISEASE$ and @PHENOTYPICFEATURE$ (PSN) were independent associates of foot ulceration (P?0.026).	false
+139438db0a93b2bbd4bed25e321550a9ab5b01f8	In 23 patients with short @DISEASE$ pregnancy @PHENOTYPICFEATURE$ (onset 14 days or less before delivery) neither maternal age nor birth weight differed from normal controls.	false
+d5fe0c65678133474e7a739a9827bc64f4670988	Furthermore, these gait features were related to @PHENOTYPICFEATURE$, diabetes @DISEASE$, patient weight, toe-gap force, and ankle range of motion.	false
+4f5e321b3e25a73afbdbbf140287afb5e9c3cb60	GTN% and IMT were not associated with diabetes @DISEASE$, packyears, hypertension, @PHENOTYPICFEATURE$, and hypertriglyceridemia when all variables were taken into account.	false
+b4eed75a486fc38240a01b76bb58f67372257407	Patients with @DISEASE$ have a greater than 50% incidence of associated abnormalities that include deafness, other ocular anomalies, cranial nerve palsies, and @PHENOTYPICFEATURE$.	false
+d6129575c4329511ae20752ff592e1c1dd250ad4	Our aim was to obtain ample electrophysiological documentation of possible @PHENOTYPICFEATURE$ in both insulin-dependent (IDDM) and non-insulin-dependent (NIDDM) diabetic patients with a short @DISEASE$ of disease and without overt complications, taking into account metabolic control.	false
+7b1060b854c04b689648a088fb6c6f3af3c1df69	We report a 52-year-old woman with a 6-year history of @DISEASE$, who developed lower extremity @PHENOTYPICFEATURE$ and proteinuria.	false
+65f06acbf1791f1d00bb8714847328518e7a68e9	Sixty kidneys were excluded (@PHENOTYPICFEATURE$, 3; percutaneous nephrostomy, 9; @DISEASE$; renal injury, 1; infarct, 1; hydronephrosis, 18; parapelvic cyst, 17; artifact, 5; horseshoe kidney, 2).	false
+42536c4ac1d9b688524156e6e5ea7e66c102c8e6	Two main pathophysiological mechanisms may account for gas exchange abnormalities: V/Q inequality, responsible for isolated @PHENOTYPICFEATURE$, and alveolar hypoventilation responsible for the also called "@DISEASE$" (OHS).	false
+cf37710952dc9708e11b219d076ad71c3ee70756	Nevertheless, patients with obesity hypoventilation still fall prey to at least four avoidable types of therapeutic errors, especially at the time of hospitalization for respiratory or cardiovascular decompensation: (1) patients with @DISEASE$ may develop acute hypercapnia in response to administration of excessive supplemental oxygen; (2) excessive diuresis for peripheral edema using a loop diuretic such as furosemide exacerbates metabolic alkalosis, thereby worsening daytime hypoventilation and @PHENOTYPICFEATURE$; (3) excessive or premature pharmacological treatment of psychiatric illnesses can exacerbate sleep-disordered breathing and worsen hypercapnia, thereby exacerbating psychiatric symptoms; and (4) clinicians often erroneously diagnose obstructive lung disease in patients with obesity hypoventilation, thereby exposing them to unnecessary and potentially harmful medications, including ?-agonists and corticosteroids.	false
+90abb3d7d82cb29df65b63478f1bc49a3ed37fdf	@DISEASE$ with @PHENOTYPICFEATURE$ and neurologic disturbances: De Sanctis-Cacchione's disease.	false
+cc38b26abb10640c1e66443dbd339dbffd349d90	A description of an 8-year-old patient with @DISEASE$, @PHENOTYPICFEATURE$, and dwarfism.	false
+fda3aeb602bb537109a00afef6afb70f1d9012c6	@DISEASE$-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as @PHENOTYPICFEATURE$, spasticity, short stature, and hypogonadism.	false
+abc2c73c957fd75eb87b7447aa457703a4263a2f	Gene p63: In @PHENOTYPICFEATURE$-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, @DISEASE$.	false
+ede71ae6e0a91782aff0c387e7634cc76e25caa1	@PHENOTYPICFEATURE$, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), @DISEASE$ (RHS), ADULT syndrome, and others.	false
+ab66605f2cf411b6a7d9258c4b483833ab3a6b59	The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, @PHENOTYPICFEATURE$, cleft lip/palate); (2) the @DISEASE$ with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate).	false
+ef181e2867b600b0e56ff8fa4bb0432b89eb5546	The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the @DISEASE$ with ectodermal dysplasia, cleft lip/palate, and mid @PHENOTYPICFEATURE$; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate).	false
+4c39bc4e54a924e0917d7538ccb0e2c3f20fde55	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, @DISEASE$, familial hypokalemic periodic paralysis, congenital myotonia, @PHENOTYPICFEATURE$, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+c4a404b2a9d3dbabe9be83a0ff84ddb5e494da7a	@DISEASE$ (EA2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, @PHENOTYPICFEATURE$, dysarthria, or nystagmus.	false
+c2c9b1c098cffc4ea6d1df0329676a646312e4ab	Obesity, atherosclerosis, insulin resistance and @PHENOTYPICFEATURE$, hyperlipidemia, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of @DISEASE$ and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+ee8e748785e9ce157639fb7c0b58e44f2f4a2716	Obesity, atherosclerosis, insulin resistance and hyperinsulinemia, @PHENOTYPICFEATURE$, essential hypertension, type 2 diabetes mellitus, and coronary heart disease (CHD) are the components of @DISEASE$ and are associated with elevated plasma levels of C-reactive protein, interleukin-6, and tumor necrosis factor-alpha, which are markers of inflammation.	false
+3994e326489114f49a076a62f6efb823b8f60173	Our data suggest that IGF-I treatment alleviates hyperphagia, obesity, @PHENOTYPICFEATURE$, hyperleptinemia, and hypertension in rats programmed to develop the @DISEASE$.	false
+c4e8c145c0db2fea1880e8a7e100b95093bad608	@PHENOTYPICFEATURE$ and insulin resistance are also frequently present (@DISEASE$).	false
+60a16423162bdb54253576972f61491ec5a22fc4	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced @PHENOTYPICFEATURE$ (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous albinism (2), @DISEASE$ (2), pigmentary mosaicism (1), and Griscelli syndrome (1).	false
+eb6392d1e9474b484db72130e7709420c3b8a6b1	Others were hypomelanosis of Ito (5), post-inflammatory hypopigmentation (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous @PHENOTYPICFEATURE$ (2), @DISEASE$ (2), pigmentary mosaicism (1), and Griscelli syndrome (1).	false
+353c1187294b2c6f982762ded9f8dcec7a8f4578	Others were hypomelanosis of Ito (5), post-inflammatory @PHENOTYPICFEATURE$ (5), pityriasis rosea (4), steroid-induced hypopigmentation (4), lichen sclerosus et atrophicus (3), pityriasis lichenoides chronica (3), lichen striatus (2), oculocutaneous albinism (2), @DISEASE$ (2), pigmentary mosaicism (1), and Griscelli syndrome (1).	false
+d275709e6eb00d29e56f7b26d9366d8a741b2363	Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory @PHENOTYPICFEATURE$, white leaf-shaped macules associated with @DISEASE$ and nevus hypopigmentosus.	false
+75af7f59d54d3a7c9a1fe359a2334dc88d6fc22e	Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital @PHENOTYPICFEATURE$, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with @DISEASE$ and nevus hypopigmentosus.	false
+08ae2265e1a2a8ba7bb29ab609ad1d5bc1f78b91	The significance of @PHENOTYPICFEATURE$ findings as manifestations of the gene for @DISEASE$ (TS) in near relatives of TS patients is a difficult problem.	false
+7158d9b84c36d0643bed2927f07164da065d9cc2	@PHENOTYPICFEATURE$ spots, resembling the mountain ash leaf, may represent the earliest sign in @DISEASE$.	false
+6992966fdf0aa5e1a0d3f58a4146fca13c5085cd	There was no history of trauma, other @PHENOTYPICFEATURE$, neurofibromatosis, or @DISEASE$.	false
+cdef3029c600f62d791a5b4ef181690387872220	Ash-leaf spots, a diagnostic manifestation of @DISEASE$, are sometimes difficult to differentiate from other @PHENOTYPICFEATURE$ lesions.	false
+2898db189f786dcdb5b949b5efeca4755a930b54	Ash-leaf @PHENOTYPICFEATURE$ are characteristic for @DISEASE$ and more than 5 caf?-au-lait spots suggest neurofibromatosis 1 (von Recklinghausen disease).	false
+30f3d2bf2254837adc9af452936baabec2b6250e	Our objective was to increase present knowledge about this condition by describing this association of lower limb @PHENOTYPICFEATURE$ and @DISEASE$, however, in a male patient.	false
+aa9080eb04734311a97d90d5f79b14af41191829	The late appearance of @PHENOTYPICFEATURE$ maculae in @DISEASE$.	false
+1a5f134828c73d1470e1c98df882acfc1f351094	Disorders of hypopigmentation may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., @PHENOTYPICFEATURE$, piebaldism, @DISEASE$, hypomelanosis of Ito).	false
+2a63b9b8b4cbf4c9ccf141af4ccd7307e1b43e51	Disorders of @PHENOTYPICFEATURE$ may also pose diagnostic challenges, although those associated with health risks are uncommon and are usually congenital (e.g., albinism, piebaldism, @DISEASE$, hypomelanosis of Ito).	false
+bc2421686a01dbb21e09828fc5ad3b2c262d835f	Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic deafness @DISEASE$ or Usher syndrome type 1F (USH1F) in humans and @PHENOTYPICFEATURE$ with balance problems in Ames waltzer (av) mice.	false
+0772eec144bcdd715544ed38676b7de0a08f8610	Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic @PHENOTYPICFEATURE$ @DISEASE$ or Usher syndrome type 1F (USH1F) in humans and deafness with balance problems in Ames waltzer (av) mice.	false
+758c0af1cff836f1003f19acb14c77ac372213ea	Twenty-two subjects (44%) had @PHENOTYPICFEATURE$, 18 (36%) subjects had hereditary retinal dystrophy, 6 (12%) subjects had @DISEASE$, 2 (4%) subjects had bilateral amblyopia and 2 (4%) subjects had congenital coloboma without other disabilities.	false
+7f5a036d33451e3f04006e726a65dccd1341b034	Sixteen patients had age-related macular degeneration (AMD); 1 patient each had rod-@DISEASE$, oculocutaneous @PHENOTYPICFEATURE$, retinitis pigmentosa, or cerebrovascular accident.	false
+0ded6801e8160d7a455decdacea6571a47a94221	We present a 15?year old mexican male with history of nyctalopia and rapid, progressive visual loss since infancy who had profound hyper and @PHENOTYPICFEATURE$ retinal pigment epithelium changes in the posterior pole together with pigment clumping in the macula of both eyes and an electroretinogram pattern consistent of rod-@DISEASE$.	false
+3d3b1cc883b60d1a5c2fe523ef97703482c53ea0	Two of the patients had foveal hypoplasia and @PHENOTYPICFEATURE$, four a seemingly isolated foveal hypoplasia, three achromatopsia, one rod-@DISEASE$, one degenerative high myopia, and two could not be evaluated.	false
+06538ce42eba2d18ccbd1039f3bcbb49268fcc90	Differential diagnosis includes all diseases associated with congenital nystagm, such as aniridia, diseases of the optic nerve, @PHENOTYPICFEATURE$ and all forms of hereditary cone dysfunction, @DISEASE$ and complete and incomplete congenital stationary monochromatism.	false
+b97d6f153471c1cc5894afbc3f1968a5cd6f0274	Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, @PHENOTYPICFEATURE$, and @DISEASE$ including achromatopsia.	false
+fa288581e5b81c0f7dc1fa25c7632e7932777f0f	@DISEASE$ in the central nervous system are often associated with various congenital disorders, especially dermal sinus and @PHENOTYPICFEATURE$.	false
+1301e7488c9374c3d5dc390242cbec9103a0ce87	We report the case of an eight-month-old female child who presented with multiple @PHENOTYPICFEATURE$ atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of @DISEASE$.	false
+7edb7b968de6600a3f2b084e01cd68013b5a83c6	We report a case of unilateral FDH or @DISEASE$ in a 16-year-old girl presenting with @PHENOTYPICFEATURE$-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm.	false
+0edfbef4f0f4aafcd788330ff8e62fb0854c90c1	Here we uncover a new subtype of @DISEASE$ with severe @PHENOTYPICFEATURE$ and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene.	false
+a494e43dc6e01afc9e8dc3177b0a8d459da85d95	Oral-facial-digital syndrome (@DISEASE$) is a ciliopathy that is characterized by oral-@PHENOTYPICFEATURE$, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects.	false
+bbccae0019d0077f163550cea24595708e1d0701	The oral-facial-digital (@DISEASE$) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral @PHENOTYPICFEATURE$ dysmorphism, and hand/feet malformations.	false
+0fdcbf105f5e8516e1fe147cdba8b7aa1cacbcb7	@DISEASE$ exhibited diverse imaging features ranging from lesions confined to the cortex to more aggressive lesions with complete intramedullary involvement or perilesional marrow @PHENOTYPICFEATURE$.	false
+9163e1313fa529cd9edef1de7676a2a1921e53f4	@DISEASE$: Mental retardation, psychomotor and developmental delays with @PHENOTYPICFEATURE$.	false
+7ca7d3c141743291a4b8de7ea3ff89d800a0bffe	@DISEASE$ (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive @PHENOTYPICFEATURE$ [1].	false
+57310b0057ccb5ddf90fd6a97f17136afb08f771	@DISEASE$ (PTHS) is characterized by distinctive @PHENOTYPICFEATURE$, profound intellectual disability, and the possible occurrence of epilepsy and breathing anomalies.	false
+c7141178c9a21e0015e8bf166a8ef848223f291b	The @DISEASE$ is a very rare and severe genetic disease characterized by mental retardation, psychomotor and developmental delays with @PHENOTYPICFEATURE$.	false
+80876ab9843c8e08bd2a3c612cdbb383af6e638a	An intragenic phenotypic map of loss-of-function variants in TCF4 is suggested here for the first time: variants within exons 1-4 and exons 4-6 give rise to a recurrent phenotype with mild ID not in the spectrum of @DISEASE$ (biallelic preservation of both the NLS and bHLH domains); variants within exons 7-8 cause a severe phenotype resembling PTHS but in absence of the typical @PHENOTYPICFEATURE$ (impairment limited to the NLS domain); variants within exons 9-19 cause typical Pitt-Hopkins syndrome (impairment of at least the bHLH domain).	false
+371a45e457a17b00bea86f5fc798d2a1c4c20bad	An intragenic phenotypic map of loss-of-function variants in TCF4 is suggested here for the first time: variants within exons 1-4 and exons 4-6 give rise to a recurrent phenotype with mild ID not in the spectrum of Pitt-Hopkins syndrome (biallelic preservation of both the NLS and bHLH domains); variants within exons 7-8 cause a severe phenotype resembling PTHS but in absence of the typical @PHENOTYPICFEATURE$ (impairment limited to the NLS domain); variants within exons 9-19 cause typical @DISEASE$ (impairment of at least the bHLH domain).	false
+2905a9198763073731e010c287e0e607fe12f089	Although the overlapping phenotype of microcephaly, epilepsy, absent speech and constipation represents a challenge for the differential diagnosis with Angelman syndrome, Rett syndrome and Mowat-Wilson syndrome, distinctive of @DISEASE$ are breathing abnormalities, that can occur as either hyperventilation episodes or apnea crises, and a typical @PHENOTYPICFEATURE$, including bitemporal narrowing, squared forehead, deep-set eyes, peculiar nose conformation, with broad nasal bridge, down-turned nasal tip and flaring nostrils, typical shape of the mouth, with a tented and M shaped upper lip, and widely spaced teeth.	false
+7cfdf1a93fa2304fa5e588593167504459ec88b2	Thrombotic thrombocytopenic purpura with optic disk neovascularization, vitreous hemorrhage, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+101eeb112fc9837179fa40a08044a5b498438f44	Affected individuals eventually develop hearing loss, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3c2ea6a39faeac73a33f4be2698d9697d5368ce4	[Traction @DISEASE$, @PHENOTYPICFEATURE$, apallic syndrome after shaking trauma in an infant].	false
+3cdfe65b6ae69cf454961292ae8b2d823331c5b3	@DISEASE$ and @PHENOTYPICFEATURE$ were common.	false
+ea7cde892f72cae7e61e739f05f58879f2b41919	Formation of vascularized membranes inside the vitreous leads to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ac19350f13c2645bad452bff3517cacbb089621c	Of 60 affected eyes, 11 showed @DISEASE$, 14 eyes developed @PHENOTYPICFEATURE$ and 12 eyes became blind.	false
+cc01d8f5a763ff569a95579d578173a687784466	Other features included @PHENOTYPICFEATURE$, microcephaly, psychomotor retardation, B-cell lymphopenic hypogammaglobulinemia, sensorineural deafness, @DISEASE$ and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia.	false
+8d1f44c4e9560619c8a8b61f9534cc7e741b5392	Other features included short stature, microcephaly, psychomotor retardation, B-cell lymphopenic hypogammaglobulinemia, sensorineural deafness, @DISEASE$ and @PHENOTYPICFEATURE$, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia.	false
+a844c616c70ea78aaf2472e63c5efc85ace20889	The condition can cause abnormal vessel development that can lead to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+219e133eaeace15747888ed0be66ed9a122ef1df	The clinical spectrum of ROP varies from spontaneous regression to bilateral @DISEASE$ and total @PHENOTYPICFEATURE$.	false
+67a0ea528be306da9968c91368614a5de6fbc4a4	@PHENOTYPICFEATURE$ after cataract surgery or @DISEASE$ repair is due to different factors, anesthetics, or implant location and is implied in every case.	false
+ffe527ce1be14f2f3afec07995b44f89aa98c583	These cases suggest that implantation of an @DISEASE$ combined with @PHENOTYPICFEATURE$ surgery can trigger decompensation of posttraumatic eyes that had been stable over a long period.	false
+0ac7fbb73b43fef35c8b896c2d624a9a0fe65826	We report 2 eyes of 2 patients who developed persistent inflammation, hypotony, and total retinal detachment after secondary implantation of an iris prosthetic system (@DISEASE$) in association with @PHENOTYPICFEATURE$ surgery.	false
+bef7792de00bd11bf58c91ddaf2be2480de808aa	All these results suggest that @DISEASE$ model is an experimental animal model, which mimics the pathophysiology and pharmacotherapy in fibromyalgia in clinic, and LPA1 signaling plays crucial roles in the IPS-induced fibromyalgia-like abnormal @PHENOTYPICFEATURE$.	false
+c812903147300110665ebdde9abb0851995d266b	In these patients, complications associated with @DISEASE$ cysts included lens subluxation in one case (1%), iritis in one case (1%), focal @PHENOTYPICFEATURE$ in two cases (2%), glaucoma in two cases (2%), and corneal touch in five cases (4%).	false
+984c3285f801c603e7a60dcf32f9dd981cdc2931	A 63-year-old woman presented with bilateral @PHENOTYPICFEATURE$ due to an SRD with @DISEASE$.	false
+37e45068f667a274102c3123f62abc6ea3c35141	On the other hand, @DISEASE$ has been found to significantly improve hypertension, left ventricular mass, renal @PHENOTYPICFEATURE$, quality of life, malnutrition, mortality and phosphate clearance.	false
+8ca6331b211c4e894ed78ad39aa15d62fc4f2827	Frequent HHD, such as short daily HD (SDHD) and @DISEASE$ instead of 3 times/week CHD, has been found to significantly improve hypertension, left ventricular mass, renal @PHENOTYPICFEATURE$, quality of life and mortality.	false
+b8a22c1729bb381b895e2eaf13c5e55162050dd0	Twenty-five patients had @DISEASE$ patients had @PHENOTYPICFEATURE$, 7 patients had chorea-athetosis, 8 patients had tremor, and 7 patients had hyperkinetic movements.	false
+7f4d5ccb3cb46f58a13d53895bc019cd3cf89e8d	@DISEASE$ in an infant presenting with @PHENOTYPICFEATURE$.	false
+984f0eabab1273877c3dc438ef2d66900d93124c	This paper emphasizes and discusses the medical approach with anakinra in @DISEASE$ presenting with @PHENOTYPICFEATURE$ in which a consistent control of the neurological picture can be obtained.	false
+1d6c8b67194724b709c1ff710b877ab6aa2d12e6	He was found to have @DISEASE$ and associated @PHENOTYPICFEATURE$ and sensorineural deafness.	false
+fc73f15a1ea475e29c90dd7cda0857b344b412a9	The FG syndrome (@DISEASE$) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, macrocephaly, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personality with @PHENOTYPICFEATURE$, and disturbances of gastrointestinal function.	false
+b26a565d4160991848350cede9984b6ed4b3f8a9	The GTA and WGA were not different between preeclamptic patients without @DISEASE$ lesion and patients with isolated @PHENOTYPICFEATURE$.	false
+f2eb920efb2e465112c2204b0a95f413e69b290e	Eventually, sustained obesity via @PHENOTYPICFEATURE$, due to resistance to insulin, causes hyperfiltration, resulting in structural changes in the kidneys--glomerular hyperthrophy and occasionally @DISEASE$.	false
+4f23bf0df9bb2dc05cb9dbfdffc09fee9116c40d	T2DN rats treated with vehicle exhibited progressive proteinuria, a decline in glomerular filtration rate (GFR), @DISEASE$, @PHENOTYPICFEATURE$, and tubular necrosis.	false
+d303cbac930bb99a0d1a91c82af3834bb390ad22	However, the near absence of information on @DISEASE$ available to these professionals is a handicap in arriving at a specific diagnosis (allowing state and federal support for special services) and in understanding the prognosis, natural history, and such complications as "@PHENOTYPICFEATURE$," seizures, and tethered cord that affect the child's success at home, in school, and out in society.	false
+c0eb10859c58ee04c48fb53db2963985446a6735	The mean GTA, WGA, EMA and number of mesangial cells (MN) were significantly increased in preeclamptic patients with @DISEASE$ lesion compared with patients with isolated @PHENOTYPICFEATURE$ and compared with those without FSGS lesion when the biopsy time was matched between patients with and without FSGS lesion.	false
+01c41073945312c92253fbaa055fde49eb19ae2d	The mean GTA, WGA, EMA and number of mesangial cells (MN) were significantly increased in preeclamptic patients with FSGS lesion compared with patients with isolated @PHENOTYPICFEATURE$ and compared with those without FSGS lesion when the biopsy time was matched between patients with and without @DISEASE$ lesion.	false
+dc3a23845a11da51309ea6580deb116be1440e17	The mean GTA, WGA, EMA and number of mesangial cells (MN) were significantly increased in preeclamptic patients with FSGS lesion compared with patients with isolated @PHENOTYPICFEATURE$ and compared with those without @DISEASE$ lesion when the biopsy time was matched between patients with and without FSGS lesion.	false
+0344a18555e1d33f51fdb178d964aba69f81160c	@PHENOTYPICFEATURE$, including atrioventricular (AV) septal defects (AVSDs), are the most common birth defects in @DISEASE$.	false
+0417f282110c7c53a34e9dd5b57720778c226c98	Preexisting maternal diabetes is a high-risk factor of @DISEASE$, such as neural tube defects and @PHENOTYPICFEATURE$.	false
+a001e63f61ab937a9a8cc2242e783aac1a8895e1	@DISEASE$ aggravates @PHENOTYPICFEATURE$ necrosis factor ?-induced insulin resistance.	false
+4f323d5f9e930512d6aa1c55e7a98fdaac658e09	@DISEASE$ had no significant effect on the hydroxylation of proline and collagen production during tumor growth or in angiogenesis associated with @PHENOTYPICFEATURE$ or mammary gland growth.	false
+f97cddf4240b0dcb85fefccebfea341502a55984	@DISEASE$ had no significant effect on the hydroxylation of proline and collagen production during @PHENOTYPICFEATURE$ growth or in angiogenesis associated with tumor or mammary gland growth.	false
+4686271e6c695ddfbe1c38601f535cdbc491bcf5	"Kaviraj" also treat complicated diseases such as tuberculosis, hypertension, sexual disorders, infections, urinary problems, hepatic disorders, pneumonia, stomach stones, diabetes, swellings, debility, kidney problems, @PHENOTYPICFEATURE$, @DISEASE$ and poisoning by using medicinal plants.	false
+0dfc246abf96cdee8802055f9c2322f355d5ece7	Cholestasis, @PHENOTYPICFEATURE$, and total parenteral nutrition were common topics from 1970 to 1989 and obesity, nonalcoholic fatty liver disease, and @DISEASE$ were common topics after 1990.	false
+4d828d7e78111c0c1b585d656ab33bcc6fd34a45	Therefore, these models may be suboptimal for mimics of human @DISEASE$ which was usually idiopathic type without @PHENOTYPICFEATURE$.	false
+cc8cb6899a7e9e826e8da42377f3741a564ba1c2	@DISEASE$ due to a de novo @PHENOTYPICFEATURE$ or gonadal mosaicism in a first child.	false
+93ce74bf9e6b7207e3e131fe15605e4f550438ac	Aniridia-a developmental @PHENOTYPICFEATURE$ in which the iris is apparently absent-has been shown to be genetically associated with Wilms' tumor (an embryonic nephroblastoma) in the @DISEASE$.	false
+0102cdae8ff4862cb1025c32fb3445bc15bff8bd	@DISEASE$ (SCA17) is a dominant @PHENOTYPICFEATURE$ disorder, caused by a triplet repeat expansion within the TATA-binding protein.	false
+243c628b3629c431b18d64ef7e865a3994828a80	@DISEASE$ (SCA17) is a rare autosomal dominant @PHENOTYPICFEATURE$ disease caused by the CAG/CAA expansion in the TATA box-binding protein (TBP) gene.	false
+97f7d90c538718f03a9b96198a56828e6a228a70	To describe a characteristic paroxysmal eye-head @PHENOTYPICFEATURE$ that occurs in infants with @DISEASE$ (Glut1 DS).	false
+514fd2e0a3e44f34d705ac042a3feee2483318ae	We conclude that @DISEASE$ is a chronic condition, dominated by epilepsy in infancy and by @PHENOTYPICFEATURE$ thereafter.	false
+a98300933706ae1407a3824d458001ea5d8d549d	@DISEASE$ syndrome is characterized by infantile onset seizures, development delay, @PHENOTYPICFEATURE$, and acquired microcephaly.	false
+e9ab078e632f9bd2096ca32cd3eec8a6b3637211	GLUT1 deficiency syndrome (@DISEASE$) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, @PHENOTYPICFEATURE$, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting.	false
+40f6deaa91f76702d0c70eaf8315e5b9ee330851	@DISEASE$ (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation of GLUT1-DS is heterogeneous and the disorder mirrors patients with epilepsy, @PHENOTYPICFEATURE$, or any paroxysmal events or unexplained neurological manifestation triggered by exercise or fasting.	false
+98406aef838d486193879b21ebd32a710de4eb94	Paroxysmal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+224cf8d22f7086201ae85aef169ac81726a0181d	@DISEASE$ due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal @PHENOTYPICFEATURE$; own experience and literature review.	false
+47e1fe65b24dc08740bc3b68e3a0731e73c8f4f2	@DISEASE$ is a treatable neurological disorder characterized by developmental delay, @PHENOTYPICFEATURE$ and epilepsy.	false
+9843bf1c265f6289935151b8332de3b3e6a5c841	@DISEASE$ as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex @PHENOTYPICFEATURE$.	false
+a7aac82113a186d36acc16c58ab55b2c8eeaa6b7	Recognizing @DISEASE$ is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the @PHENOTYPICFEATURE$.	false
+97b2711af8dcf77f027d42b330b4de9e6378c392	[Exercise and fasting induced @PHENOTYPICFEATURE$ in children: think of the @DISEASE$].	false
+3fbd05fdc8877e9eb33eaffc37eeb1fc1fa615c2	Herein, we report a patient with @DISEASE$ presenting with persistent @PHENOTYPICFEATURE$ and insufficiency fractures while receiving regular iron infusions due to chronic gastrointestinal bleeding.	false
+6678d382e616636f09e1b4f42f09ac2fc21139f8	A patient with @DISEASE$ and @PHENOTYPICFEATURE$ who lacked the distal small bowel and ascending colon required 600 mg of intravenous phenytoin daily (11 mg/kg/24 h) to maintain her plasma phenytoin levels in the 12-24 micrograms/ml range.	false
+b7b33d7e84a122281a36d64669b3488307327858	Congenital perineal @PHENOTYPICFEATURE$ in a neonate of a mother with @DISEASE$.	false
+1030fdafc382c7aa08e8a5f54c884b830c80700d	Six children of similar ethnic origin with @DISEASE$, cleft palate, malignant hyperthermia (or susceptibility to malignant hyperthermia), and @PHENOTYPICFEATURE$ are presented.	false
+d186e7d7c06a6040af3adb57ffbc308a0d7638e1	A case report is presented of a boy with @DISEASE$ associated with oculo-facial and @PHENOTYPICFEATURE$.	false
+e8b185efdff6f7bea965cc9c07caf4d6bb283f46	Native American myopathy: @DISEASE$ with cleft palate, @PHENOTYPICFEATURE$, and susceptibility to malignant hyperthermia.	false
+1f0c911bf6012986a1d18ddb5c009e808374dcbb	Minor @PHENOTYPICFEATURE$ and areflexia suggested a @DISEASE$.	false
+75bba5d169289cb660d8118f2df1b96e6652b20d	Four index cases showed features consistent with a @DISEASE$ (hypotonia, delayed motor milestones, and @PHENOTYPICFEATURE$ including congenital hip dislocation and scoliosis).	false
+4e79f14dcaec8ffd8e94236571fe5410beb39576	@DISEASE$ with oculo-facial and @PHENOTYPICFEATURE$.	false
+23cd9afdcd8bcbb889a64b4b38bd1b0427ad68b4	All patients had @PHENOTYPICFEATURE$ or muscle weakness, mental retardation, @DISEASE$, and glycerol kinase deficiency.	false
+95d36fd41a564d00cebf4b6ddb4eec12a55ee08d	Aldosterone synthase deficiency, salt-wasting forms of congenital adrenal hyperplasia, and @DISEASE$ all cause aldosterone deficiency, signs of which include hyponatremia, @PHENOTYPICFEATURE$, hypovolemia, elevated plasma renin activity, and sometimes shock and death.	false
+14f983b7e830284dee15bdf3404a4b4f4cde4af6	We report on a patient with genetically confirmed @DISEASE$ (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, @PHENOTYPICFEATURE$ (CAH).	false
+7389a6e4a50417b9a10a1ce6d294db5bbf7671de	We report on a patient with genetically confirmed adrenal hypoplasia congenita (@DISEASE$) whose presentation and laboratory abnormalities were consistent with the more common condition, @PHENOTYPICFEATURE$ (CAH).	false
+68bd48631bd6aff66f8b43ea6efd4d45775fb859	This child has a deletion of part of band 21 of the short arm of the X chromosome (Xp21) and three other X-linked disorders: @DISEASE$, glycerol kinase deficiency, and Duchenne type @PHENOTYPICFEATURE$.	false
+e876b2fea9d277331376491c027c51ce13f4ba38	When these disorders occur on the hands, they are often clinically indistinguishable, but they can sometimes be separated histologically by the presence of papillary dermal @PHENOTYPICFEATURE$ (Sweet's syndrome), ulceration and necrosis (@DISEASE$), or vasculitis (pustular vasculitis).	false
+52fc897b81cbdcd2be301e98d643e0579e393d2e	The association between ulcerative colitis and various @PHENOTYPICFEATURE$, especially @DISEASE$, has been accepted for many years.	false
+20fe09854a8dff53070b1a828fa470f6b32e3ef1	It has a phenotype distinct from classical pyogenic arthritis, @DISEASE$, and acne (PAPA) syndrome that includes severe systemic and cutaneous inflammation, hepatosplenomegaly, arthritis without sequelae, pancytopenia and @PHENOTYPICFEATURE$.	false
+f7337c9dbed153701454ef9efb0086b6c55ad90e	Osteomyelitis in association with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ad0aa5bb0cc549ae599b0fc8d8c7a8adb54c06c5	Other local AE include superficial thrombophlevitis, @DISEASE$, pain, ulcer formation, and @PHENOTYPICFEATURE$.	false
+d81660fdd1c564a3f3065601184d25b0c5504b27	Here we present a 20-year-old female patient with a sudden pain and an oval, @PHENOTYPICFEATURE$ defect on her left lower leg, 3 x 3.5 cm in diameter, with an erythematous, clearly defined border, surrounded by erythematous, painful skin resembling @DISEASE$.	false
+5a7462de879f02717b8b4e50a4296068617c7cf3	We hereby present a 14-year-old girl with arthralgia, @PHENOTYPICFEATURE$, leukocytoclastic vasculitis, interstitial lung disease secondary to recurrent pulmonary hemorrhage, @DISEASE$ and high titers of MPO-ANCA, hence diagnostic of microscopic polyangiitis.	false
+2ae7a2f75a08727a658c152290022fcb6e7e34d3	@PHENOTYPICFEATURE$ (@DISEASE$) in a newborn with tetralogy of Fallot, detected by magnetic resonance imaging.	false
+c2769f47a272e1e4ea2f43a76985142263c6b5e7	Hemopoietic changes in partial @DISEASE$ (partial @PHENOTYPICFEATURE$).	false
+0c203e5740324c285988eb8b297fb56e2a698eb5	Finally, the pathologic presentation of @PHENOTYPICFEATURE$ (@DISEASE$) is discussed.	false
+b477b9ff330003111fb6d19b173d6d50ea493d8b	@DISEASE$ is a congenital anomaly with a constellation of findings that includes @PHENOTYPICFEATURE$.	false
+dd8ab2b8ca78f92975841eb82729f0c501a9561b	@DISEASE$: congenital @PHENOTYPICFEATURE$.	false
+397ab8c3ba873914bc1ee79f72e32135448ca14d	Partial @DISEASE$ (pDGS) presents with @PHENOTYPICFEATURE$ and a variable decrease in T-cell numbers.	false
+b680c840baf78754542ac176cd98fe82a741f1d6	Patients with @DISEASE$ are particularly vulnerable to autoimmune conditions secondary to @PHENOTYPICFEATURE$ and dysfunction of the immune system.	false
+d67d2807dfd3dd083a82dfdf33b36b2327ce6d0f	@DISEASE$ (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and @PHENOTYPICFEATURE$.	false
+98c2e27ab882a8f027e3a1531b458efd655f6758	We report on a case of @PHENOTYPICFEATURE$ (@DISEASE$) associated with tetralogy of Fallot in a newborn.	false
+a1e2cd7c5f5bad1aad5f0119d0ea5512bbbd5641	are associated with @PHENOTYPICFEATURE$ and features resembling @DISEASE$.	false
+078cb2ee0ae1b15b7cc4ac4a37b3c21e2a6523d7	This finding demonstrates that haploinsufficiency of SMAD3 leads to development of both thoracic aortic aneurysms and dissections, and the @PHENOTYPICFEATURE$ that form part of the @DISEASE$.	false
+b5a67d9548c90ba4e557b02162c7f7fcd13ae641	However, unlike preeclampsia, @DISEASE$ is associated with hemodilutional anemia and fluid overload, which may progress to @PHENOTYPICFEATURE$.	false
+c07edff0a13458fcdbb3e9eec4e107e6a5e0ef84	We report a rare case of @DISEASE$ with maternal @PHENOTYPICFEATURE$ associated with fetal hydrops due to Patau syndrome.	false
+f34760050ee480784dd0c10f19127713517cec39	@DISEASE$ was diagnosed after fetoscopic laser therapy for TTTS at 24 weeks' gestation due to maternal manifestations of @PHENOTYPICFEATURE$, skin edema, anemia, low blood protein concentration and proteinuria accompanied by donor hydrops.	false
+5678a90f24b02ddde13a74161b3f4eff03b93f5e	We report     an 18-year-old female patient who presented to us with history of headache and     @PHENOTYPICFEATURE$ and was observed to have @DISEASE$ with cervical cord     syrinx on imaging.	false
+d5a1ac48e02ba2cfcb06d0c24dfbebf3c73af5ad	@PHENOTYPICFEATURE$ and Neck Swelling in a Case of Undiagnosed @DISEASE$ and Cowden Syndrome.	false
+30069b61efac483b69d17cf22cac41dd7c85d493	The authors report the case of a 10-year-old boy with @DISEASE$ who had been suffering from @PHENOTYPICFEATURE$ attacks (VAs).	false
+bab2ad3041f93d0ee5a10e2fb6ddcf4275a496c7	Frequent @PHENOTYPICFEATURE$ attacks in a patient with @DISEASE$: a rare pathophysiology of cerebellar lesions?	false
+725d806d205c4f46a65fcc94fef9fe94793956ba	De novo germline PTEN mutation in a man with @DISEASE$ which arose on the paternal chromosome and was transmitted to his child with @PHENOTYPICFEATURE$ and Wormian bones.	false
+fb756eddd81bc50be7760eb25af82f0ed2117453	@PHENOTYPICFEATURE$ has previously been described in two patients with @DISEASE$ and CS and is thus likely to be a rare sign of PTEN mutations.	false
+8396c7cd6472a86a71b57fcde1a63ae2e05535fb	@DISEASE$, also known as angiokeratoma circumscriptum naeviforme, is a rare congenital @PHENOTYPICFEATURE$.	false
+918a712ee6cd92bbf763cafa3e7afa551643d59a	@PHENOTYPICFEATURE$ and bladder-emptying difficulties after radical hysterectomy for early @DISEASE$ and among population controls.	false
+9b44334a5aed4a90df937b8c47459a3f7af1919b	About 60% of the @DISEASE$ patients are @PHENOTYPICFEATURE$ positive; most present with advanced cervical disease.	false
+b212280e58afdb9c3bebd91e2ab3ddb674181110	Reference values were highest (ie, showed greatest symptom burden) in lung cancer (pain interference, 55.5; fatigue, 57.3; depression, 51.4) and @DISEASE$ (anxiety, 53.2; @PHENOTYPICFEATURE$, 53.4).	false
+694bae02d5c49e6bd0c9a5cd2a0ac330a666d980	in patients with early-stage cervical cancer (FIGO IA, IB2 and IIA), the incidence of lymph node metastases is up to 15%; the majority of early @DISEASE$ patients with pelvic and para-aortic lymphadenectomy does not benefit with the procedure and are at risk of associated morbidity (linfocyst, @PHENOTYPICFEATURE$, vascular or nerve damage).	false
+f6d617f94c0596b5987e81cec5e4ad4503af22de	in patients with early-stage @DISEASE$ (FIGO IA, IB2 and IIA), the incidence of lymph node metastases is up to 15%; the majority of early cervical cancer patients with pelvic and para-aortic lymphadenectomy does not benefit with the procedure and are at risk of associated morbidity (linfocyst, @PHENOTYPICFEATURE$, vascular or nerve damage).	false
+067f22576cf252d3de8269500ecfef8fa265d5e7	@DISEASE$ are rare @PHENOTYPICFEATURE$ that may secrete ACTH leading to rapid development of hypercortisolism causing electrolyte and metabolic abnormalities, uncontrolled hypertension and an increased risk for opportunistic infections.	false
+bdb2ba5bb954f9cef474e347b1c9996376a5ccb2	Although various markers of cellular proliferation and apoptosis have correlated with degrees of @PHENOTYPICFEATURE$ differentiation in pulmonary neuroendocrine neoplasms, they have not been systematically studied in @DISEASE$.	false
+d98a7bd653c0d86424696dd2beb48069f613dab4	@DISEASE$ (carcinoid tumor) is rare, and prognosis for patients with this @PHENOTYPICFEATURE$ has been difficult to predict.	false
+6729e72c81da346241a0d40b599a1900de17e972	@DISEASE$ are rare @PHENOTYPICFEATURE$, but their management can often be highly problematic.	false
+077c68c4798a928ef7f8622ad90f6f75b907ad05	We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential @PHENOTYPICFEATURE$-related genes of @DISEASE$ with EAS by whole exome sequencing.	false
+5f98698f82dbf09a3b10c4c217dbceb4929a1734	Also, @DISEASE$ should be detected as soon as possible because they represent the most lethal @PHENOTYPICFEATURE$.	false
+44b2f38c545cd3cf48505d3b499bf38e765cafe7	In multivariate analysis, nodal metastasis was more likely in patients with @DISEASE$ and with more advanced @PHENOTYPICFEATURE$.	false
+4d7392ee03800d85159e89731d23f3f7afc8470a	Somatic mutations of three potential @PHENOTYPICFEATURE$-related genes (HRAS, PAK1 and MEN1) might contribute to the tumorigenesis of @DISEASE$ with EAS.	false
+472c994b61469ea30c250433a871c211af8eec72	The resected @PHENOTYPICFEATURE$ was pathologically consistent with @DISEASE$ (NET) positive for ACTH by immunohistochemistry and abundant V1b receptor gene expression by RT-PCR.	false
+7de8b435a848d85e0fe5467ef8970e344b67ceab	After these three types of @PHENOTYPICFEATURE$, many adrenocortical tumors and bronchial and @DISEASE$ were reported.	false
+a3c20b4df8b9ecf028ace95b9eaf1b6ae85a43a9	All GDH activities were within normal range in patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+bbc07699dbdbc0e26281c77afa60c2e73076ff64	The pattern of structural brain abnormality in patients with alcohol @PHENOTYPICFEATURE$ who had antigliadin antibodies differed from gluten ataxia and was identical to that of @DISEASE$ ataxia.	false
+164ccd8b39598a84b037997a38cd511b3493305c	The pattern of structural brain abnormality in patients with alcohol ataxia who had antigliadin antibodies differed from gluten @PHENOTYPICFEATURE$ and was identical to that of @DISEASE$ ataxia.	false
+07116ed9d5a511680dadaf82ffaac580256ac957	The pattern of structural brain abnormality in patients with @DISEASE$ @PHENOTYPICFEATURE$ who had antigliadin antibodies differed from gluten ataxia and was identical to that of alcohol ataxia.	false
+bd149b94e204d60ceb9a440c444768ee6e22943a	The pattern of structural brain abnormality in patients with @DISEASE$ ataxia who had antigliadin antibodies differed from gluten ataxia and was identical to that of alcohol @PHENOTYPICFEATURE$.	false
+69b03ee886cb138280fc766b2a8e63cf897be625	The pattern of structural brain abnormality in patients with @DISEASE$ ataxia who had antigliadin antibodies differed from gluten @PHENOTYPICFEATURE$ and was identical to that of alcohol ataxia.	false
+f4872efe33ee3c731bbeac7df546b93bd61adcc2	The pattern of structural brain abnormality in patients with alcohol ataxia who had antigliadin antibodies differed from gluten ataxia and was identical to that of @DISEASE$ @PHENOTYPICFEATURE$.	false
+475ba017fabfa0c98563621688ae5128acbaadd4	[Clinical aspects and histopathology of acute @DISEASE$ @PHENOTYPICFEATURE$].	false
+796a7a496a31f329bc1e26380c0478bb4bc2f239	Foetal @DISEASE$ spectrum disorders (FASDs) are a leading cause of developmental @PHENOTYPICFEATURE$.	false
+1f08891895422d13c2be5d465e22791898c69e8a	Acute @DISEASE$ @PHENOTYPICFEATURE$ in persons with loss of labyrinthine function.	false
+d2933d01034d4ceb9aa025837072835773ea356e	Of 904 registered patients, 104 had @DISEASE$ @PHENOTYPICFEATURE$ and 159 had gluten ataxia.	false
+da2719ea34677066bf7a0ebdb1a8c3e2ce37da7b	Of 904 registered patients, 104 had @DISEASE$ ataxia and 159 had gluten @PHENOTYPICFEATURE$.	false
+3b8724b6f5728cda636a0b5091f074e3fc713120	@DISEASE$ cerebellar disease and @PHENOTYPICFEATURE$.	false
+56937e64e385c0d2d940e09a40e787f3c9e89c8e	Improvement of @PHENOTYPICFEATURE$ in @DISEASE$ cerebellar atrophy through alcohol abstinence.	false
+afd159bcaa3fe06f8d54f00c851864d6395ea619	Fetal Alcohol Syndrome (FAS) and Fetal @DISEASE$ Effects (FAE) are preventable forms of mental retardation and developmental @PHENOTYPICFEATURE$ caused by heavy prenatal alcohol exposure.	false
+27dbc9f594eb8bb0addbaf7e0ed60806b62cad0c	Fetal Alcohol Syndrome (FAS) and Fetal @DISEASE$ Effects (FAE) are preventable forms of @PHENOTYPICFEATURE$ and developmental disability caused by heavy prenatal alcohol exposure.	false
+a3c20b4df8b9ecf028ace95b9eaf1b6ae85a43a9	All GDH activities were within normal range in patients with @DISEASE$ @PHENOTYPICFEATURE$.	false
+f2e93a2e1db37820e797cfd12743825ee6bbcea7	Autosomal dominant brachyolmia, @DISEASE$ (SMDK) and metatropic dysplasia (MD) are currently considered three distinct skeletal dysplasias with some shared clinical features, including @PHENOTYPICFEATURE$, platyspondyly, and progressive scoliosis.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+27c50795f2a14287fbc71333a8394f8816f743bb	@DISEASE$ is characterized by ocular, facial, cardiac, and @PHENOTYPICFEATURE$, although it is often unrecognized by clinicians.	false
+0bc33916fa637da1fe0f8046c6206ff4ec55b0fb	King syndrome is characterized by the presence of a nonspecific myopathy, a susceptibility to @PHENOTYPICFEATURE$, and dysmorphic features similar to the phenotype seen in @DISEASE$.	false
+983b10599cbcc5d426b1535b75ed4a05990fd126	The purpose of this report was to: summarize the care of a child between the ages of 12 to 16 years old born with Noonan-like central giant cell syndrome and unrelated common variable @PHENOTYPICFEATURE$; provide information on the dental management of patients with @DISEASE$;  and present a brief discussion of the recent associated genetic findings.	false
+5dd81eb33216ac94e1b4ff423b52efaa0e1b451c	We report on a 26-year-old female affected by @DISEASE$ (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including @PHENOTYPICFEATURE$, celiac disease, and Hashimoto thyroiditis.	false
+90a694df3ffd282d61b597b941de8725d83b488f	Severe @PHENOTYPICFEATURE$ during pentamidine treatment of AIDS-associated @DISEASE$.	false
+34b3577490ed21e90e6e129f1f4d4ef5054a3135	Common variable @PHENOTYPICFEATURE$, recurrent @DISEASE$ on intravenous gamma-globulin therapy, and natural killer deficiency.	false
+00aa70da463c68219c3a85668dbd66bcb6ab1319	These results suggest that the present model, which administers IDPN chronically in the drinking water ad lib and does not show involuntary movements and @DISEASE$ syndrome, is of potential importance for investigation of chronic diseases of progressive muscle weakness with progressive @PHENOTYPICFEATURE$, and for assessing the efficacy of drugs and therapies for treating chronic neuromuscular diseases.	false
+92f8e54fcc2b9b21d72c44736f3d912b8694a0b2	Imaging showed an @DISEASE$ lesion involving the proximal one-third of the humerus, with central lysis, surrounding sclerosis and @PHENOTYPICFEATURE$, endosteal scalloping, and cortical thinning and expansion.	false
+44779876250d046fb3c3e25311564db8569d0163	Multimodality imaging of Poland syndrome with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+8fe27a2dcc899cdc0da83ee4ba98390a5eae7ba5	The index case is a 6-year-old male presented with distinctive facial features, cutis aplasia of the scalp, rudimentary teeth, microcephaly, intrauterine and postnatal growth retardation, psychomotor developmental @PHENOTYPICFEATURE$ delay, epilepsy, inguinal hernias and @DISEASE$.	false
+0a1e4ee3ab16d33fc2aa9f4d129ba8f1a2c2c9e2	Other human @PHENOTYPICFEATURE$ lines are also growth suppressed by Egr-1 overexpression including ZR-75-1 breast carcinoma, U251 glioblastoma, and to a lesser extent, @DISEASE$-2 osteosarcoma cells.	false
+c6e0c5e94bb445f516bb5b962c09b80409317e4f	The antitumor efficacy of NLE-CDDP on @DISEASE$-2 @PHENOTYPICFEATURE$ is higher than that CDDP alone, and its mechanism is delaying rapid clearance from circulation.	false
+c71bb29eeaa2d27a0258105147da84b032fab63e	On the basis of the protective effect of autophagy for @PHENOTYPICFEATURE$, the present study investigated whether U2OS and @DISEASE$-2 osteosarcoma cells activate autophagy to reduce Dox-induced apoptosis.	false
+cf47d2c0ae4cba736a20e2c333a1c48474b1aebc	@DISEASE$-2 osteosarcoma cells bind fibroblasts via ICAM-1 and this is increased by @PHENOTYPICFEATURE$ necrosis factor-?.	false
+96136627f0b374ebbe5c54ceddf98a91b42aace6	twice weekly at 0.12 mg/kg to @DISEASE$-2 tumor-bearing mice resulted in primary @PHENOTYPICFEATURE$ growth inhibition, reduction in lung metastases, and dramatic decrease in osteolysis.	false
+e66464c6eae9dc2afc8e73fcfbd7e3af3ceafe11	twice weekly at 0.12 mg/kg to @DISEASE$-2 @PHENOTYPICFEATURE$-bearing mice resulted in primary tumor growth inhibition, reduction in lung metastases, and dramatic decrease in osteolysis.	false
+5fd8bac90e5bf76155865e7ef5fbf17991622d21	Orthotopic @PHENOTYPICFEATURE$ were induced by intra-tibial injection of @DISEASE$-2 osteosarcoma cells.	false
+2a7baba3184e53ae8cfb80dabf69b04da9185a91	In addition, this ATG4B antagonist had a negative impact on the development of @DISEASE$-2 osteosarcoma @PHENOTYPICFEATURE$ in vivo.	false
+78e4269a5dd72a87d2685cf73f02b6c28372c046	The PP region was dispensable for DNA binding, inhibition of @DISEASE$-2 @PHENOTYPICFEATURE$ cell growth, suppression of E1A + RAS cell transformation, and cell cycle inhibition.	false
+f8e664711be435cfbcc81527b377040fdfe3d20a	In vivo, RECK inhibited @DISEASE$-2 @PHENOTYPICFEATURE$ growth, bone destruction, and consequent metastasis.	false
+01b4d0ec16d66d05221d1652a2e9d11605549eea	@DISEASE$-2 @PHENOTYPICFEATURE$ cell-induced platelet aggregation (TCIPA) was completely inhibited by hirudin but unaffected by apyrase.	false
+d95e67772c7bc279491eb6be15dd3f8f27824148	@DISEASE$ and @PHENOTYPICFEATURE$: a pooled analysis from the InterLymph Consortium.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+f0a29ac09d00af05900993273877fc11f8a6542c	Smoking, alcohol use, @PHENOTYPICFEATURE$, and overall survival from @DISEASE$: a population-based study.	false
+52f346cbf93f6820a57b7cdb787e18f59795c7da	Physical activity, @PHENOTYPICFEATURE$, energy intake, and the risk of @DISEASE$: a population-based case-control study.	false
+3dc83c4960385fee33846c16d3c59df4970f1228	However, epidemiologic findings on @PHENOTYPICFEATURE$ in relation to @DISEASE$ have been inconsistent.	false
+107fb97edc5b18e3e6ebcf72d03fbe64c92b530f	The incidence of @DISEASE$ and prevalence of @PHENOTYPICFEATURE$ are increasing globally.	false
+07c92e12efe029e622ef8281e943394f64e467e1	@DISEASE$, @PHENOTYPICFEATURE$ and energy homeostasis polymorphisms.	false
+930e9dbb9413b581dc8512128af1d5986aee4752	Recent reports suggest that @PHENOTYPICFEATURE$, or conditions associated with obesity, might be risk factors for non-Hodgkin lymphoma (@DISEASE$), a cancer with dramatically increasing incidence in western countries over the last several decades.	false
+f9246efe6aa7f3be0f5f8c77b155bd932cba0e25	Recent reports suggest that obesity, or conditions associated with @PHENOTYPICFEATURE$, might be risk factors for @DISEASE$ (NHL), a cancer with dramatically increasing incidence in western countries over the last several decades.	false
+1230aec9e2782d2f7663c9cdac01e9ae6e61fa8d	Recent reports suggest that obesity, or conditions associated with @PHENOTYPICFEATURE$, might be risk factors for non-Hodgkin lymphoma (@DISEASE$), a cancer with dramatically increasing incidence in western countries over the last several decades.	false
+4f9005846193afcad3dcee5fc5741cb06b07441a	Recent reports suggest that @PHENOTYPICFEATURE$, or conditions associated with obesity, might be risk factors for @DISEASE$ (NHL), a cancer with dramatically increasing incidence in western countries over the last several decades.	false
+cadcbdc3173dd682b4c29d043da35a0e6f2c21a7	The risk was also significantly higher for extracutaneous tumor development like chronic lymphocytic leukemia, colon and kidney cancer (both genders), @DISEASE$, cervical cancer (females), and @PHENOTYPICFEATURE$ (males).	false
+ff9f4ce4f49c73fc320f49256f4b18787554ec99	We report on a patient with high-grade @DISEASE$ who developed severe metabolic acidosis, hyperkalemia, @PHENOTYPICFEATURE$, and hypocalcemia within 2 days of starting corticosteroid therapy.	false
+3167433341a0200cf6f8fcbf4538a283b5353665	@DISEASE$ (WS) is a clinically and @PHENOTYPICFEATURE$ hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration.	false
+543f0b86a7d38f5f0dc386ee25e95c43df13f04d	We describe a patient with possible @DISEASE$ associated with @PHENOTYPICFEATURE$ and oesophageal atresia with tracheooesophageal fistula.	false
+96b29f2594a18a8fb53a4e41ecfad90fdf987d1b	Verruciform xanthoma in @DISEASE$ and keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome: Report of two cases and a review of the literature.	false
+d529848ddaf04e41d4addbc693d01ea9de1906f6	We describe two teenage patients with severe genodermatoses, @DISEASE$ (RDEB), and keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome, respectively, each found to have plaques suspicious for malignancy, later demonstrated on histopathologic examination to be verruciform xanthoma.	false
+9c981694e68ae88928a3fa23b8a9f9e7e19302a2	At initial biopsy, only 50% of the AIDS/@DISEASE$ patients with EFH/mixed compared to 100% with FI/LD were symptomatic with weight loss, night sweats, diarrhea, @PHENOTYPICFEATURE$, or fatigue.	false
+5bfa3d4a22c0db48c31ae84cfd3359636d1f3713	They presented a malformation syndrome characterized by @DISEASE$, predominantly preaxial limb deficiencies, rare postaxial @PHENOTYPICFEATURE$, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations.	false
+81826c595c2fbefa161160e9916783dc38d74b8a	The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by @DISEASE$ and a variety of @PHENOTYPICFEATURE$.	false
+dc86c56d31dcfd3e977b6a5ce77f8b8dc862d8f9	We report on a male fetus with @DISEASE$, including phocomelia-like upper limb deficiencies and lower @PHENOTYPICFEATURE$ which are characteristic of AFD Rodriguez type.	false
+66bd5f07cf2815b3c498291341676fa5edbf7396	We report on a 46,XY infant with @DISEASE$, preaxial and postaxial @PHENOTYPICFEATURE$, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition.	false
+91a5b6fa262484a47af8d8c06b4b5e082f624fd7	More importantly, we show that genetic inhibition of tp53 can suppress neuroepithelial cell death and ameliorate the @PHENOTYPICFEATURE$ in polr1c and polr1d mutants, providing a potential avenue to prevent the pathogenesis of @DISEASE$.	false
+00835b452a95756dce913bfdafdb3ff441de4370	@DISEASE$, microtia, and @PHENOTYPICFEATURE$ in a newborn: a new form of acrofacial dysostosis syndrome?	false
+09ec9c8a5dc488e3598a06ed3471eac11818583c	The effect of @DISEASE$ on TMJ function and craniofacial @PHENOTYPICFEATURE$.	false
+50bcafab9f3188db3cbce0c1ae743ccd6be37dd1	We report a case of a 24-year-old woman with @DISEASE$ who had @PHENOTYPICFEATURE$ due to otosclerosis and scar tissues around the malleus and incus.	false
+04b79fa47c13b19ea50e474bb33d0c6f09a4f8b6	@PHENOTYPICFEATURE$ in @DISEASE$ type VI.	false
+6ae9bcbbd60778302ca008ba0cf86bd82a120854	Characteristics of the relative miosis and @PHENOTYPICFEATURE$ of M birds resemble signs in some CNS disorders, such as altered inhibition of the @DISEASE$-Westphal nucleus, and especially lesions in, or lowered activity of, higher sympathetic centers (a subtype of Horner's syndrome).	false
+04b79fa47c13b19ea50e474bb33d0c6f09a4f8b6	@PHENOTYPICFEATURE$ in @DISEASE$ type VI.	false
+ae870c2042fec52d5c2af60babe8b01097a9b078	Two disabled patients diagnosed with @DISEASE$ had spinal @PHENOTYPICFEATURE$, including neck and back pain, headache, and extremity pain.	false
+fa29c5fce66e1bdb917a4289f51f11aee918f956	We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (@DISEASE$) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+8e18e19e30db0ddeeb2af9e25e5d6e995f947d11	We report on an autosomal-recessive variant of @DISEASE$ (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, @PHENOTYPICFEATURE$, and normal pyridinoline excretion in urine.	false
+87349a3e1e107e680c88913eafa4f916125681b8	The tendency toward scar formation, infection, and inflammatory response, especially to foreign bodies, in EDS needs to be kept in mind to determine treatment of choice in patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2975a33098b63cb886d85fb6891b2fcef5d696ac	The association of @PHENOTYPICFEATURE$ with OI has not been reported previously, while OI with @DISEASE$ features has only been described in some kindreds.	false
+b4560bc5dbd5de27b10f6f790443d7a53bc5c8d1	Liposclerosing myxofibrous @PHENOTYPICFEATURE$: a traumatized variant of @DISEASE$?	false
+dfc9896b55669934aa3e476681ad43625fb5dfe3	@DISEASE$-like @PHENOTYPICFEATURE$ of the lacrimal sac.	false
+649b8856fb31954dfa93c9de0fd462b78a04fbbf	[Osteoglophonic @PHENOTYPICFEATURE$--a variant of generalized @DISEASE$?	false
+dc34b4f4e758922c0ead8522e561b4ebde3fd4a1	Ossifying fibromas and their relation to @DISEASE$ and other @PHENOTYPICFEATURE$.	false
+77945f97dbd5b3ba84b75bbcf1f3388c569ed778	[Supraorbital @PHENOTYPICFEATURE$ as manifestation of Jaffe-Lichtenstein @DISEASE$].	false
+c2d16b295bb82007e92617f5baf9d22d79d79630	@DISEASE$ is a benign @PHENOTYPICFEATURE$ of the skeleton.	false
+704be43857fa179f7f249cb5eea2c258fccf7424	@DISEASE$ mimicking intra-cranial @PHENOTYPICFEATURE$.	false
+1e7e4c0682ccf120822ee6d1e7cdb5b85498dccc	A generalized @PHENOTYPICFEATURE$ with features of chronic idiopathic hyperphosphatasia and @DISEASE$ of the mandible were observed in a 6-year-old child.	false
+bd367f3b2ce50e187c0ed8caacbe0d5782dcdcb4	Histological examination revealed the @PHENOTYPICFEATURE$ to be @DISEASE$.	false
+8fd571096c27ad5c74464f20f4be7f08fa52dd69	@DISEASE$ is a @PHENOTYPICFEATURE$ with a propensity to affect the femur in its polyostotic form, leading to deformity, fracture, and pain.	false
+348468c5ca2cbc7a935615c5d0a4bc198779f7a9	@DISEASE$ (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe @PHENOTYPICFEATURE$, midface hypoplasia, popliteal pterygia, and syndactyly.	false
+17240bc4664cae1b6a3f8f907e2547d84871ccd9	Greig cephalopolysyndactyly syndrome (GCPS) comprises @PHENOTYPICFEATURE$ with craniofacial malformations without the @DISEASE$ malformations.	false
+06f5cfe4d0ecdfab51177d09ce56171a3e472559	We encourage all clinicians to consider @DISEASE$ or an associated syndrome with a clinical finding of @PHENOTYPICFEATURE$.	false
+a04f79a520ca5b5af29bb2d56d791089e798fda6	Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, @DISEASE$ and non-syndromic @PHENOTYPICFEATURE$.	false
+42673021f808444a5d18e8cb23cc88c35d20dc3e	Pallister-Hall syndrome (@DISEASE$) comprises hypothalamic hamartoma, @PHENOTYPICFEATURE$, pituitary dysfunction, laryngotracheal cleft, imperforate anus, and other anomalies.	false
+52e1d839da87e8b01686993744935620520519ed	@DISEASE$ (PHS) comprises hypothalamic hamartoma, @PHENOTYPICFEATURE$, pituitary dysfunction, laryngotracheal cleft, imperforate anus, and other anomalies.	false
+bed79974166846047cc31482d89c0ada9d97cca8	Teaching NeuroImages: Hypothalamic hamartoma and @PHENOTYPICFEATURE$: Think @DISEASE$.	false
+6795202cba48115b4a39ac85a4f7361d34f7b85a	We observed 576 lethal @PHENOTYPICFEATURE$ events in HPFS and 337 in @DISEASE$.	false
+1b422213be0af9b58776b8801c383bf2351781d0	Two cases of congenital hypothalamic hamartoblastoma, @PHENOTYPICFEATURE$, and other congenital anomalies (@DISEASE$)	false
+960a5b33fbe385bc45f40f84e4a429747aa574b6	@DISEASE$ (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), @PHENOTYPICFEATURE$, panhypopituitarism, imperforate anus and other visceral anomalies.	false
+067be35408f9c2882277135d14b5cdcd6bd989ef	Pallister-Hall syndrome (@DISEASE$) is a very rare syndrome characterized by hypothalamic hamartoma (HH), @PHENOTYPICFEATURE$, panhypopituitarism, imperforate anus and other visceral anomalies.	false
+e189c4ea18060262cef3609b2869cb7c2820b071	In this write-up, we report an extremely rare syndrome associated with @PHENOTYPICFEATURE$ that is @DISEASE$.	false
+a76c38c6de5284a77a0f149306c104cca06c4086	Nevertheless, @PHENOTYPICFEATURE$ is frequently observed in PHS patients and it even represents a criterion for the clinical diagnosis of @DISEASE$.	false
+88cc4fe3dcb60b25f5aaa63f137d8a645de30754	Nevertheless, @PHENOTYPICFEATURE$ is frequently observed in @DISEASE$ patients and it even represents a criterion for the clinical diagnosis of PHS.	false
+fe3b8186e0c1385a91708d8fb650c629d0cdd60b	The resulting double knock-out mice demonstrated @DISEASE$, hyperammonemia that was further elevated by oral sucrose administration, @PHENOTYPICFEATURE$, and a fatty liver, all features of human citrin deficiency.	false
+c41f29601b3256226d392263c6e55372ec8bd79f	The IVS6-2A>G mutation was reported to be found frequently in Japanese patients with @DISEASE$, but Caucasian patients showed the extreme @PHENOTYPICFEATURE$ heterogeneity.	false
+becacba57cb208cffcb8cc30adeeac00482d2d39	This present report concerns an infantile patient with @DISEASE$, who showed transient cortical bone @PHENOTYPICFEATURE$ followed by severe osteopenia.	false
+cae5d8a9bdb35fcab48a87921c7563d758e5ffc3	Diagnosis of @DISEASE$ was established by muscle biopsy, when the male index patient developed transient severe @PHENOTYPICFEATURE$ following heart transplantation.	false
+ee890f8918db9f98213c1ae604b1195dc4298523	Late profound @PHENOTYPICFEATURE$ following heart transplantation due to @DISEASE$.	false
+534690473d4e0165b58bc9d43a289b697593aa8f	The rise in @DISEASE$ in Friedreich's @PHENOTYPICFEATURE$ correlated well with the age of the individual and thus appears to be related to the course of the disease.	false
+54596572aafd2fb8d196682859ad8e71fa310851	All five @DISEASE$ produced dose-dependent, skin @PHENOTYPICFEATURE$ and epidermal hyperplasia.	false
+cd1afc3b321e8c71dd544762c654c99dee1b7b23	Autism candidate genes were enriched within PMDs and the largest @DISEASE$ observed in SH-SY5Y cells marked a 10 Mb cluster of cadherin genes with strong genetic association to @PHENOTYPICFEATURE$.	false
+c8edacf5407245be47ccb11899002da2b5eba92a	The role of endo- and exogenous peptides in normal @DISEASE$ process and in the pathogenesis of early child @PHENOTYPICFEATURE$ is discussed in the article.	false
+2e9bcd3e200a7bc0a7db8cc5a83b1c97780c6894	Caregivers (n = 10; parents and clinical staff) engaged in four, 10-min interactions with a person with @DISEASE$ (n = 3; diagnoses = traumatic brain injury, @PHENOTYPICFEATURE$, hypoxic brain injury), whose biomusic was projected throughout.	false
+bc3e24558057011850d2e3e4541c44167f2182dc	In 2016, alcohol caused an estimated 376,200 cancer deaths, 10.0 million cancer years of life lost (YLLs), 236,600 cancer years lived with disability (YLDs), and 10.3 @DISEASE$ cancer @PHENOTYPICFEATURE$-adjusted years of life (DALYs), representing 4.2%, 4.2%, 4.6%, and 4.2% of all deaths, YLLs, YLDs, and DALYs lost due to cancer, respectively, proportionally highest in high- and upper-middle-income countries.	false
+a26a92f531a58c60c9ace6f93a24656a90ba275f	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-@DISEASE$), and Leber's hereditary optic neuropathy (LHON).	false
+8f100eb6804c0a96570a68d6fb7a4abd936daa61	Mitochondrial genomes with deleterious mutations can replicate in cells along with wild-type genomes in a state of heteroplasmy, and are a cause of severe inherited syndromes, such as mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke (MELAS), neuropathy, ataxia, retinitis pigmentosa-@DISEASE$ (NARP-MILS), and Leber's hereditary optic neuropathy (LHON).	false
+78e73a8bd2ffa4ca7ac2d8674435713db4fe6cd3	We observed a newborn infant of a previously reported kindred with absent dermal ridge pattern, @PHENOTYPICFEATURE$, and facial @DISEASE$.	false
+0f6aff1a5582e1ce82c9171ad9f15da58d167d6b	Reevaluation of a kindred with congenital absence of dermal ridges, @PHENOTYPICFEATURE$, and facial @DISEASE$.	false
+1e4ad5550116c856a65c54bc48e29564a9a46c8e	Brainstem and @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+c68658c1d2ab61a05d3e73614b08e715faee7a58	A newborn male with @DISEASE$ suffered from neonatal @PHENOTYPICFEATURE$, which later developed into infantile spasms.	false
+0725c0554b4e649c795c3b885f76786033371ece	Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal @PHENOTYPICFEATURE$, and lactic acidosis due to @DISEASE$.	false
+981959e0b6a426f0531e8fc5d31eab07cb2acc4f	Heterozygous HOXA13 mutations have been previously reported in @DISEASE$ and Guttmacher syndrome, which are variably associated with @PHENOTYPICFEATURE$, short distal and middle phalanges, short thumbs and halluces, but not absent nails.	false
+e86d4d56d2df70bb00fb7442223a34ea0bbfd53e	@DISEASE$: does @PHENOTYPICFEATURE$ size matter?	false
+1afd01f188220d283d7e0751e96d504f78085c3f	Minimal change disease and membranous nephropathy are frequently observed in glomerular lesions of @DISEASE$ patients, but ANCA-associated renal @PHENOTYPICFEATURE$ is rare.	false
+68f6aceaf5487ffeeeaf1ecfbe09b2fdb16411b1	@DISEASE$ is a standard epithelial @PHENOTYPICFEATURE$.	false
+ab188dd23c826085f1816bdcd0c245e22c7f8531	@DISEASE$ is a relatively rare @PHENOTYPICFEATURE$.	false
+e4a2a2af454ab8a1aef69b0ff5981e6a55adbe4a	@DISEASE$ is a rare @PHENOTYPICFEATURE$ entity.	false
+689842c9f92c63c58cb863eada9e1e062563ebc7	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ of childhood.	false
+282399512f4e5751684d53f0205bf7f2993f2973	@DISEASE$ is a slow-growing @PHENOTYPICFEATURE$.	false
+32adb27f75189a4f3ed75ecf1c7b5c7d57850a13	miR-20b acts as a @PHENOTYPICFEATURE$ suppressor in the development of thymoma and @DISEASE$-associated myasthenia gravis.	false
+6784d16866eca54e4323992c81cc23f12807c172	miR-20b acts as a @PHENOTYPICFEATURE$ suppressor in the development of @DISEASE$ and thymoma-associated myasthenia gravis.	false
+689842c9f92c63c58cb863eada9e1e062563ebc7	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$ of childhood.	false
+beb8ddc67af2d2bf4fd406fb80fbc6aebf5a80a0	[@DISEASE$ and thymoma-like @PHENOTYPICFEATURE$ of the anterior mediastinum--therapeutic problems in observed patients].	false
+489443415f79b2560fe2f773baf6123759617d91	[Thymoma and @DISEASE$-like @PHENOTYPICFEATURE$ of the anterior mediastinum--therapeutic problems in observed patients].	false
+9fe26adffe4333777104651bcd2b515c02f92da8	We consider these clinical findings as possible additional manifestations of the syndrome since, of 19 @DISEASE$ patients reported, 4 had @PHENOTYPICFEATURE$ and 3 had embryonal tumors.	false
+d808a593da2ad0ec62b9de6f82e69e1192ac56b6	Secondary end points were the length of hospital stay and the proportion of patients with secondarily generalized seizures (@DISEASE$) during video-EEG, postsurgical @PHENOTYPICFEATURE$ outcome, and hospital cost.	false
+02109530947a4ea27582b92b5eecfcdf970d3e13	We distributed patients in subgroups based on @PHENOTYPICFEATURE$ type (focal seizures [FS], secondarily generalized seizures [@DISEASE$], primarily generalized seizures [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+854609222cbc14b96893c1969df54d3109b04648	This study aimed to delineate the differential and interlinked role of visceral @PHENOTYPICFEATURE$ and the IGF-1 system in esophageal adenocarcinoma and @DISEASE$ (SCC).	false
+b9ff61ad54375157f411a394a7bc67146f4d0422	The primary causes of @DISEASE$ are tobacco use and alcohol consumption, whereas the main risk factors for adenocarcinoma of the esophagus are gastroesophageal reflux disease and @PHENOTYPICFEATURE$.	false
+7fc7a060a2f4bd2a39f91af7be10d5179f833180	Implication of visceral @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+20a2de8e4673987ffbf010c58690c4b388e70faa	Although @DISEASE$ cases have steadily declined, the incidence of gastroesophageal junction adenocarcinoma has increased 4%-10% per year among U.S. men since 1976, more rapidly than for any other cancer type, and parallels rises in population trends in @PHENOTYPICFEATURE$ and reflux disease.	false
+37748b5d1789fd22d7a081766d9ed08a983e41f0	Growing evidence has indicated that tumor biomarkers, including cytokeratin 19 fragment antigen 21-1 (Cyfra21-1), carbohydrate antigen 19-9 (CA19-9), carbohydrate antigen 72-4 (CA72-4), carcinoembryonic antigen (CEA) and @PHENOTYPICFEATURE$ antigen (SCC-Ag) were reported to be commonly used in diagnosis and prognosis in @DISEASE$ (ESCC).	false
+6b013aaffb4a152fe46a0ee4426a6c2c4bd04846	Little is known about the association of @PHENOTYPICFEATURE$ and physical activity at young ages with subsequent risk of @DISEASE$ (ESCC).	false
+9e96b910636bce0a0d0cba443d881e668eafbd86	However, the implication of visceral @PHENOTYPICFEATURE$ in patients with @DISEASE$ (ESCC) is unclear.	false
+95826c23de443cf95eaff77cc3407db27b3320b2	The relationship between overall @PHENOTYPICFEATURE$, as measured by body mass index (BMI) and risk of @DISEASE$ (ESCC) has been reported to show a negative correlation.	false
+60224ccebc46b1b7e5ee9607fcb7f2c8b549d870	We performed a systematic review of studies reporting on the relationship between pre-diagnosis smoking, alcohol consumption, overweight and @PHENOTYPICFEATURE$, physical activity and regular consumption of nonsteroidal anti-inflammatory drugs, and risk of death from @DISEASE$ (ESCC) and adenocarcinomas (EACs).	false
+013d191e1515ff087bcee7fbd42ffe27661ef1f9	Sibs with @DISEASE$, anophthalmia, clefts, omphalocele, and @PHENOTYPICFEATURE$: hydrolethalus or acrocallosal syndrome?	false
+b73005f1deb9a1eee34fde27f38a15a028501f9e	The leading anomalies included cleft lip, cleft palate, @DISEASE$, @PHENOTYPICFEATURE$, hydrops fetalis, trisomy 21 and cystic hygroma.	false
+c62ac27102994e118036965ed81450a08cd4086f	In four counties of Shanxi province, the prevalence rates of @DISEASE$, spina bifida, hydrocephaly, cleft palate alone and @PHENOTYPICFEATURE$ were significantly higher than in Wuxi areas.	false
+9f47ca18744911ad8ddde5326f0fa40fad0d15c9	For @DISEASE$, @PHENOTYPICFEATURE$, and microtia, but not other phenotypes, the risks were different depending on whether maternal versus paternal race-ethnicity was considered.	false
+93a2bffecb023519b4713e8729542bf1001ccf02	This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: @PHENOTYPICFEATURE$ and @DISEASE$.	false
+67d2d367ebb1dbd05b6ba672d7e63782ae30770f	The RENAC showed a statistically significant higher prevalence for all three defects when compared with surveillance systems from Chile, Colombia, and @PHENOTYPICFEATURE$ Rica, and a statistically significant lower birth prevalence than Cuba for @DISEASE$.	false
+3b77049c3738cad18686acedb43ac3e34f69975b	Varus deformities of feet was the most common defect (23.4 per 10,000 births), followed by @PHENOTYPICFEATURE$ (finger) (7.8), @DISEASE$ (7.1), cleft lip and palate (6.5), syndactyly (toe) (6.5), cleft lip (6.3), and Down's syndrome (6.1).	false
+2548cfcd12d615b7ec86806ea9e17d705658b790	A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a previous malformed stillborn with @DISEASE$, meningomyelocele, @PHENOTYPICFEATURE$ and ambiguous genitalia.	false
+96c72a21f3a8d688769c183df2e0ddd5527588e8	Associated malformations include a ventricular septal defect, renal agenesis, @PHENOTYPICFEATURE$, axial skeletal anomalies, and craniorachischisis (@DISEASE$ and spina bifida).	false
+b59661efcb412608a92d65fe49f16bcd9f4d51c1	Compared to births of parents who were both white, moderately increased risks (risk ratio >/= 1.7) of @DISEASE$, @PHENOTYPICFEATURE$, and microtia, and decreased risks (risk ratio </= 0.6) of hypospadias and hypertrophic pyloric stenosis were observed among births of several mixed race-ethnicity groups.	false
+34f0927cefcd691c83ee234d0d13b9261ebd42ee	@PHENOTYPICFEATURE$, @DISEASE$, and idiopathic disorders.	false
+f6ff07387d20b9115c7c4adf4f7e8c0a7e730f7b	Based on etiology they can be classified as hypogonadotropic hypogonadism (hypothalamic or pituitary failure), @PHENOTYPICFEATURE$ (testicular failure), @DISEASE$ and idiopathic groups.	false
+1295cf23662911901eb1731d0bd3c711408a281d	@DISEASE$ (IMO) is caused by lack of functional osteoclasts leading to @PHENOTYPICFEATURE$, blindness owing to compression of the optic nerves, bone marrow (BM) failure, and early death.	false
+18e23456cdf79fcbea14b7b1b5caa6f288995af9	Chromosome 11q12-13 has been linked to three BMD-related phenotypes that are inherited as Mendelian traits in human pedigrees: an autosomal dominant high bone mass trait, autosomal recessive @PHENOTYPICFEATURE$ pseudoglioma, and @DISEASE$.	false
+4d5260461cf518bf2dce139738ba45a860dfd95d	Recent linkage of three Mendelian BMD-related phenotypes, autosomal dominant high bone mass, autosomal recessive @PHENOTYPICFEATURE$-pseudoglioma, and @DISEASE$ to chromosome 11q12-13 led us to evaluate this region to determine if the underlying gene(s) could also contribute to variation in BMD in the normal population.	false
+c5108027c5c9f8c69bf55f0b72ff794bfe22cb84	Review of reported children with @DISEASE$ identifies bilateral cataracts, nystagmus, fundus hypopigmentation, @PHENOTYPICFEATURE$, and optic nerve hypoplasia as common ophthalmologic features.	false
+b2581bbd99d14a3bd4081cca9b9f413c89f6c8e0	Two patients presenting with recurrent @PHENOTYPICFEATURE$ due to relapsing intracranial @DISEASE$ are described.	false
+96bee96f854dfbee0ad3fe710e992fd32e13646b	Faisalabad histiocytosis mimics @DISEASE$: brothers with lymphadenopathy, intrauterine fractures, short stature, and @PHENOTYPICFEATURE$.	false
+62af86bc80988974c51766904e10cecd77a5ed55	@DISEASE$, or sinus histiocytosis with massive lymphadenopathy, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated fever and @PHENOTYPICFEATURE$.	false
+99c9eddbea424be3fff7019e1b9353d009f6bd82	Rosai-Dorfman disease, or @DISEASE$, is a rare, benign, lymphoproliferative disorder that commonly manifests as a massive painless cervical lymphadenopathy with associated fever and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+c737142669dcf5bf40343c46fd1b5c2d60f278fa	@PHENOTYPICFEATURE$ and myelopathy in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+0cebe90693b80b1c92fce7b3cb5284fd1c281292	AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, @PHENOTYPICFEATURE$ susceptibility, Pompe disease, McArdle disease, @DISEASE$, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates.	false
+1bb83a6a93d03198905d053d3ac63434306d715e	Positive @PHENOTYPICFEATURE$ susceptibility in vitro test in a patient with mitochondrial myopathy and @DISEASE$.	false
+3daacd6f3f9d96691e7dd0488930b2de2a662ac3	@DISEASE$ is a rare syndrome characterized by @PHENOTYPICFEATURE$, bone, cardiovascular, and neurological alterations.	false
+bc79d17699197ef951383e7800903cd4d54cdfdc	Mutation or deletion of HDAC4 causes @DISEASE$ (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and @PHENOTYPICFEATURE$, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.	false
+fa1bc11dd2fbd0473ee605a5d5859c4e52f67173	Our report narrows the likely causative genomic region for microcephaly and @PHENOTYPICFEATURE$ in @DISEASE$ to a small genomic region enriched with neural progenitor genes that may represent an important locus for the development of the human cortex and corpus callosum.	false
+e0a8f281389bc1eadba3c528bfc089394ad7ce5e	We sequenced the exomes of seven @DISEASE$ trios, plus @PHENOTYPICFEATURE$ from four of these patients and the unaffected monozygotic (MZ) twin of one (discovery cohort), to identify constitutional and somatic de novo sequence variants.	false
+3287552589011ad7b189999fca27dbf046061a6e	A thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest @PHENOTYPICFEATURE$ and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as @DISEASE$ syndrome.	false
+8aa45441a2a35cbd994dab7d4ad7c71762c06c42	@DISEASE$ (ROHHAD): exome sequencing of trios, monozygotic twins and @PHENOTYPICFEATURE$.	false
+ff823d8ff2e9d0e09a83fa26c9617964c979fb70	Because of the high prevalence of cardiorespiratory arrest and probability of accompanying @PHENOTYPICFEATURE$, early recognition of @DISEASE$ is important.	false
+cf32f4a75fbb8b5b362090764835a1947ef3846c	Acromegaly patients had a lower occurrence of postoperative urinary/renal complications (0.2% vs 1.1%), thromboembolic events (0% vs 0.4%), fluid/electrolyte abnormalities (5.7% vs 9.1%), and iatrogenic @PHENOTYPICFEATURE$ (0.3% vs 1.1%) compared to other @DISEASE$ patients (all p < 0.05).	false
+5c74471534891187c3f013b9af4d99aa11ccdfca	@PHENOTYPICFEATURE$ occur in most extrapyramidal disorders but have rarely been studied in @DISEASE$.	false
+8045fc9e4c5c053834521a64d3293795197398fa	A 22-year-old woman with hepatolenticular degeneration, or @DISEASE$, was note clinically to have Kayser-Fleischer rings and associated @PHENOTYPICFEATURE$.	false
+13d89ab2c0d9414e301f68f6e8b0e2910c9ee72e	A 22-year-old woman with @DISEASE$, or Wilson's disease, was note clinically to have Kayser-Fleischer rings and associated @PHENOTYPICFEATURE$.	false
+12f4465750d5dbe9baf3ef0837e76e9bc04d6a36	Kayser-Fleischer ring and associated @PHENOTYPICFEATURE$ in @DISEASE$.	false
+0784dcd11eaefb3e3548934c5ca13145c65f3e06	The eye in @DISEASE$: sunflower @PHENOTYPICFEATURE$ associated with Kayser-Fleischer ring.	false
+63d1db1954cc64f1113ecd0389fbee1700823812	The sunflower @PHENOTYPICFEATURE$ in @DISEASE$: pathognomonic sign or rare finding?	false
+de6c915ad8b98b6423a39aed02400114d6051c10	Sunflower @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7c3d3fb3225dfcd07edfc8c9b4b9705bdac1bda3	Neurological symptoms in @DISEASE$ (WD) may include @PHENOTYPICFEATURE$.	false
+222b9723278e66571193b529f38ee6b5154b0f3e	"Sunflower @PHENOTYPICFEATURE$" in @DISEASE$.	false
+7796c8d6673e12017b16c024f69640871c92d3bc	Elemental analysis of sunflower @PHENOTYPICFEATURE$ in @DISEASE$: a study using scanning transmission electron microscopy and energy dispersive spectroscopy.	false
+4fcf591b7f8289e53a8c63181c6e3a2ced6422ea	@PHENOTYPICFEATURE$ in familial mental retardation syndrome should lead to the suspicion of a storage disorder, including Niemann Pick disease type C, Gaucher's disease, abetalipoproteinemia and @DISEASE$.	false
+fea7fa06a35043f1ccfac2b52648c7c9eb0bd216	These include @PHENOTYPICFEATURE$, hyperoxaluria, renal tubular acidosis, @DISEASE$ and disturbances of purine metabolism.	false
+aed2324b73a051d5e03b665c1dee3bff35a73c5e	Urine analysis revealed metabolic abnormalities in 87% of the cases, including hypercalciuria (33.8%), hypocitraturia (33.1%), hyperoxaluria (26.5%), hyperuricosuria (25.4%), hypocitraturia + @PHENOTYPICFEATURE$ (21.1%), hyperphosphaturia (20.8%) and @DISEASE$ (5.7%).	false
+82f588224a4b5e12f40894964dc3c13914bbed57	Idiopathic @PHENOTYPICFEATURE$, hypocitraturia, @DISEASE$ and hyperoxaluria were diagnosed in two, two, one and three patients, respectively.	false
+1e816b76ecfcc6b4cd26c63c96804de703c62388	The careful analysis of cystine calculi may be important to detect the presence of other urinary alterations (such as hyperuricosuria, @PHENOTYPICFEATURE$, hyperoxaluria or bacterial infections) that coexist with @DISEASE$ in many patients.	false
+c1fe052769d9d1e9272c7ca14f22e87c9868fe3a	We studied six patients with renal stone disease, @PHENOTYPICFEATURE$, @DISEASE$ and/or hyperuricosuria, during variations in dietary Na and Cl intake.	false
+ba854cf55e5a0b730ca61834aef928dd4645c586	@DISEASE$ presenting with acute renal failure and @PHENOTYPICFEATURE$.	false
+5e17e20405c87b81419984cf0abc5912c63fe7b0	In 12, a metabolic cause of calculi was identified (4 hyperoxaluria, 6 @PHENOTYPICFEATURE$, 2 @DISEASE$).	false
+7370f9726cb6bab0ec1eea3dba9791a2b82bdc4f	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, @DISEASE$ and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial hemolytic uremic syndrome with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+82de233348569b2f3cd49e024d3823342e0c2044	Neurological complications reported to be associated with @DISEASE$ include mental retardation, @PHENOTYPICFEATURE$, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy.	false
+3dc5c0b9fcf4d5c2a0cb591148dfc6a63361df89	The abnormalities present, single and associated, in order of frequency, were idiopathic @PHENOTYPICFEATURE$, (56.88%), hyperuricosuria (21.08%), unduly acidic urine (10.95%), hypocitraturia (10.55%), hypomagnesuria (7.9%), primary hyperparathyroidism (3.01%), hyperoxaluria (2.6%), and @DISEASE$ (0.32%).	false
+de629ef87d89a14bb46c0cbb66279de65d25dbd7	[Malnutrition @PHENOTYPICFEATURE$ due to @DISEASE$ deficiency].	false
+67207f9d6e09102b80dad8ec3bfafe7c53813164	Of the women tested before 23 weeks, 300 had elevated levels of AFP in plasma and 14 of them had fetuses with abnormalities known to cause a rise in AFP levels (12 fetuses had a @PHENOTYPICFEATURE$ and 2 had @DISEASE$ tract abnormalities).	false
+f4e96a99691cd7ae73a54b7826e3eeb8027a6e9b	[@PHENOTYPICFEATURE$ mesocolica @DISEASE$, hernia bursae omentalis and transhaesio intestini; observations on forms and pathogenesis].	false
+0318ec64cec2f312aa65fe5f4f4f84493129ad8a	Thus, sustained high BP may have caused progressive @DISEASE$ hypertrophy, increased aortic rigidity, and enlarged hearts with left @PHENOTYPICFEATURE$.	false
+b218fa913acd5e046d12b77d714dc87651e6ebe0	@DISEASE$ hypertrophy of the pulmonary muscular arteries was related more to left ventricular hypertrophy than to left @PHENOTYPICFEATURE$.	false
+83f5a9f98a6b23b5ca96bfa3f1e8db5809a0f195	Obstructive @PHENOTYPICFEATURE$ and type 2 diabetes are common @DISEASE$ disorders that have important clinical, epidemiological, and public health implications.	false
+3d5336444780fd680aa3b3257c4a9b4fbf05f791	Pseudoachondroplasia (PSACH) and autosomal dominant multiple epiphyseal dysplasia (@DISEASE$) comprise a disease spectrum characterised by varying degrees of @PHENOTYPICFEATURE$, joint pain and stiffness and early-onset osteoarthritis.	false
+e6670224a965812f7f713bcd87141b36857a1229	Pseudoachondroplasia (PSACH) and autosomal dominant @DISEASE$ (MED) comprise a disease spectrum characterised by varying degrees of @PHENOTYPICFEATURE$, joint pain and stiffness and early-onset osteoarthritis.	false
+acfb88e211450ad31096404582155e70181a9de4	@DISEASE$ layer hypertrophy of hepatic arterial branches may be associated with @PHENOTYPICFEATURE$ (BA) pathogenesis.	false
+77425290792c4298620c843a1c0b030400128ba1	Their phenotype includes cystic @DISEASE$ degeneration, aortic regurgitation, left @PHENOTYPICFEATURE$, reduced ejection fraction, and fractional shortening.	false
+bfe41e32ade1e5d09f58bb60f21c4a2fd46402ae	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (@DISEASE$), COMP disorders that are characterized by @PHENOTYPICFEATURE$, brachydactyly, scoliosis, early-onset osteoarthritis, and joint hypermobility.	false
+1c9029a9400bd091ba5a71f299697beb1f9f7a0b	The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and @DISEASE$ (MED), COMP disorders that are characterized by @PHENOTYPICFEATURE$, brachydactyly, scoliosis, early-onset osteoarthritis, and joint hypermobility.	false
+8159723e8f05e3d9f2d0f0c9a706de55df17a2a2	Angiographic contrast @DISEASE$ are known to induce alterations in cardiovascular dynamics which may result in acute @PHENOTYPICFEATURE$.	false
+1717eb7204944ccc9ebe366e9ac261cf9a83fada	Morphometric demonstration of portal vein stenosis and hepatic arterial @DISEASE$ hypertrophy in patients with @PHENOTYPICFEATURE$.	false
+3b70c5cfb98d4af329bb634149f4b0a82b7fd99f	The original class 3 drug, amiodarone, is increasingly in use as an antiarrhythmic of first choice for @DISEASE$ and for arrhythmias associated with hypertrophic @PHENOTYPICFEATURE$, and as a reserve drug in resistant arrhythmias of other types.	false
+09664f9e998d506046bae8873773f2b840e0aec7	Patients with @DISEASE$ syndrome and @PHENOTYPICFEATURE$ consistent with MELAS syndrome, such as seizures, deafness, short stature, and stroke, should be screened for the A3243G mutation.	false
+6ab12c4fc60106607443dd9095e8c7d4730fe454	Physical inactivity, such as time spent sitting (@DISEASE$) has recently gained attention as an important risk factor for @PHENOTYPICFEATURE$ and related diseases.	false
+d1c4f74b41fc26ef595e5da97c00ea489ab50eb6	Among the 57 patients without preoperative @PHENOTYPICFEATURE$, new-onset postoperative obesity was found in 9% of primary surgery patients and 21% of repeat surgery patients (p = 0.34) despite aggressive resection, suggesting that hypothalamic dysfunction was rarely associated with GTR by @DISEASE$ in this series.	false
+3501aa12401937d856e59b269430be2f97ab5ddf	Among the 57 patients without preoperative obesity, new-onset postoperative @PHENOTYPICFEATURE$ was found in 9% of primary surgery patients and 21% of repeat surgery patients (p = 0.34) despite aggressive resection, suggesting that hypothalamic dysfunction was rarely associated with GTR by @DISEASE$ in this series.	false
+51e8a68ff190af84d473413cd47e4b1ea2c306b2	The values of @DISEASE$ were improved after CI, especially in patients with postlingual @PHENOTYPICFEATURE$.	false
+6d68239656c929fbcd7cabb648e4ec676bd79854	Primary nephrologic diseases were indication for balance in 17 or 19.3% children, while in other 71 or 80.6% children, were other diseases like @PHENOTYPICFEATURE$, diabetic ketoacidosis, chronic systemic diseases, the @DISEASE$, the conditions of intracranial hypertension.	false
+5c76ad16e593be3fa1d68f75b28efb454ddb55d7	The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the @DISEASE$, a @PHENOTYPICFEATURE$ with additional symptoms as pupillary alterations and deafness.	false
+147c314dce090fb6d31b54b8ef78ff355151c596	This spectrum of expression of @DISEASE$ among obese men originates from multiple interacting factors including reduced levels of gonadotropins and testosterone, altered androgen-to-estrogen ratios, insulin resistance, and @PHENOTYPICFEATURE$.	false
+938cfa8ba48246a1191c49ebac9bcb46f8473843	The present report details a case of bilateral @PHENOTYPICFEATURE$ in an obese 15-year-old boy with @DISEASE$ undergoing bilateral mastectomy for gynecomastia.	false
+b98904fd842050e725282f7b2b59a624d5cc77be	The negative effect on bone due to the glucocorticoid excess is mediated by the direct action of cortisol in reducing bone apposition and increasing bone resorption, and by indirect mechanisms such as the calcium malabsorption, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f77af98428a7bfe1c49460afdba6e623632c72de	Furthermore, we found significantly increased risk ratios with opioids compared to placebo for a number of specific adverse events: constipation, dizziness, drowsiness, fatigue, hot flushes, increased sweating, nausea, pruritus, and vomiting.There was no data on any of the following prespecified adverse events of interest in any of the included reviews in this overview of Cochrane Reviews: addiction, cognitive dysfunction, depressive symptoms or mood disturbances, @DISEASE$ or other endocrine dysfunction, respiratory depression, sexual dysfunction, and @PHENOTYPICFEATURE$ or sleep-disordered breathing.	false
+6b7b5015d146a5649fdea4ec4d0dcbe0161a9e81	Proximal myotonic dystrophy--a family with autosomal dominant @PHENOTYPICFEATURE$, cataracts, hearing loss and @DISEASE$: heterogeneity of proximal myotonic syndromes?	false
+a02855f671f33020a0281cbe73355c3810b6ee55	The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive @PHENOTYPICFEATURE$, male @DISEASE$ and polycystic ovary syndrome.	false
+2ed34af3cced72f6cccb7db0ccf26b1c4df1e8b7	Major risk factors for osteoporosis are @DISEASE$, glucocorticoid therapy, @PHENOTYPICFEATURE$, gastrointestinal disease, and high alcohol consumption.	false
+9eba4af387cc57efd2d573b799f2990605672062	Patients with beta thalassemia major (TM) had higher rates of @DISEASE$, multiple endocrinopathies, worse hyperglycaemia, subclinical hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+513f431a10e3cf2c2cc43ccd56fa35a13ca056cd	However, the simple measure of waist circumference (>94 cm in men and >80 cm in women) is useful: (1) to check for insulin resistance by measuring serum levels of fasted glucose and insuline, cholesterol, triglycerides; (2) to look for diseases associated with MS such as hypertension, non alcohoolic steatohepatitis, @PHENOTYPICFEATURE$, polycystic ovary disease, @DISEASE$ and to measure serum levels of ferritine, ALAT, ASAT, urate acid, CRP hs, testosterone and (3) to make obese people aware of their risk of becoming diabetic and to motivate them to change their life style.	false
+596e3af1663a19beb489c8fb45d5dce8f2af8688	However, competitive sport can lead both reproductive and/or sexual tract damages and dysfunctions, transient (genital pain, @PHENOTYPICFEATURE$ of the genitalia, hypogonadism, DE, altered sexual drive, etc.) or permanent (@DISEASE$, DE, etc.), by acting directly (traumas of the external genitalia, saddle-related disorders in cyclists, etc.) or indirectly (exercise-related hypogonadism, drug abuse, doping, stress, etc.).	false
+7c3f7b4701663e7aa57b656074a5d2799cb66b18	To assess the prevalence of @PHENOTYPICFEATURE$ in older adults using the head impulse test (HIT) and to assess the independent influence of @DISEASE$ abnormalities on gait speed and fall risk in older individuals.	false
+5ee87edaf44d38f761bfa2133a6ee330e47837d6	A female patient with known @DISEASE$, who underwent hematopoietic cell transplantation, presented with @PHENOTYPICFEATURE$ and delayed puberty.	false
+525397d0b50b76724db9e7f8e1163f6f2f152eb9	Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had @PHENOTYPICFEATURE$, 2 had Ataxia telangiectasia, and one each had DiGeorge syndrome, @DISEASE$, hyper IgM syndrome and leukocyte adhesion defect.	false
+db3e353fbb25e6b01905f7b1f77d5c01a0447f57	A case of @DISEASE$ with de novo @PHENOTYPICFEATURE$ at exon 4.	false
+c48640cc573a5d0b2df75bbb1fda21d06b971b9b	We present the immunological studies on 2 patients, one with the @DISEASE$ and another with common variable @PHENOTYPICFEATURE$.	false
+36f420e99139422c2360c1e451627abe5ad4cdc0	Serum IgE concentration of patients with acquired hypogammaglobulinemia, thymoma and @PHENOTYPICFEATURE$, myotonic dystrophy, intestinal lymphangiectasia and @DISEASE$.	false
+43b1e4917836e5a38521b6be0649d5d684f15c3a	A complex pattern of neurological dysfunctions with @PHENOTYPICFEATURE$ and visual allucinations, but without focal signs, suddenly arose 20 days after an unrelated bone marrow transplant for chronic myelogenous leukemia (CML) in a 13-year-old girl, accompanied by signs of acute skin graft-versus-host disease (@DISEASE$).	false
+175c8431bbd03c370272bab7d2454d512d1b14fd	Data from published literature are submitted together with findings from the author's studies on the condition of lipid peroxidation (LPO) and antioxidant system (@DISEASE$) in those patients with @PHENOTYPICFEATURE$ (HF) complicated by symptomatic arterial hypertension against the background of chronic pyelonephritis.	false
+bd8e435fc86e3557b4ad45689de5c957c85120f0	Adams-Oliver syndrome (@DISEASE$, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as @PHENOTYPICFEATURE$.	false
+4d2820b660935ab90229061603bc6caf246d63be	@DISEASE$ is a rare, autosomally dominant inherited @PHENOTYPICFEATURE$, characterized by diaphyseal sclerosis, medullary stenosis, pathological fractures, bony infarction, and malignant transformation.	false
+376f501261fdd7d380c95e87e7f303e6d355e819	We report on a family affected by @DISEASE$ carrying a small 4q35 deletion and residual fragments length of 17?kb, presenting with epilepsy (three patients), @PHENOTYPICFEATURE$ (two), and mental retardation (one).	false
+6c6e90b93d11c51d854287489fd29dacff0d2ac6	@DISEASE$ presenting with isolated axial @PHENOTYPICFEATURE$ and bent spine syndrome.	false
+eae870041dbf083fc182c6641b1cbe99abc83dd3	Recently it has been postulated that there is an atypical @DISEASE$ (FSHD) phenotype with isolated axial @PHENOTYPICFEATURE$.	false
+2704f9780c42c08a7a0e5809da8f948b4a001f24	Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (@DISEASE$) phenotype with isolated axial @PHENOTYPICFEATURE$.	false
+f4c4578ecb2fed9d04d3ebc38f96453956f4d997	Facioscapulohumeral muscular dystrophy (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$, clinically characterized by asymmetric weakness of muscles in the face, shoulder girdle and upper arm.	false
+07277b26bc1915806b91c0fa3ec59e9eeffe5875	@DISEASE$ (FSHD) is an autosomal dominant @PHENOTYPICFEATURE$, clinically characterized by asymmetric weakness of muscles in the face, shoulder girdle and upper arm.	false
+71df6e337c12309ecff67bc7825de55d2c1286cd	Epilepsy, @PHENOTYPICFEATURE$, and mental retardation in @DISEASE$.	false
+cb2d1bffd9641b7eefa1ef5fc6b6f9208575c7d7	These subtelomeric repeats are known to rearrange and partial deletions of this polymorphic array on chromosome 4 are associated with facioscapulohumeral muscular dystrophy (@DISEASE$), an autosomal dominant @PHENOTYPICFEATURE$.	false
+c3bdaca49e456089feb6c85d77e82b7e2510e253	These subtelomeric repeats are known to rearrange and partial deletions of this polymorphic array on chromosome 4 are associated with @DISEASE$ (FSHD), an autosomal dominant @PHENOTYPICFEATURE$.	false
+2f16066357a487e7c75c48b6b38b3d08fa113d62	Ash1L is an epigenetic activator belonging to the Trithorax group of proteins and is involved in @DISEASE$ muscular dystrophy, @PHENOTYPICFEATURE$ and cancer.	false
+7196b5fa3cbc7d12a04f66a2a76509abaa03ff4a	In conclusion, we provide further evidences that extramuscular findings such as epilepsy, @PHENOTYPICFEATURE$, and mental retardation may occur in those patients carrying smaller 4q35 deletions, suggesting that a close correlation between 4q35 fragment size and clinical severity in @DISEASE$ is therefore not constant.	false
+7b547493578b2c0d976bc1fb9bbeeee9cbbfdfd3	Camptocormia is most frequently encountered in @PHENOTYPICFEATURE$ (PD and dystonia) and muscles diseases (myositis and myopathy, mainly facio-scapulo-humeral muscular dystrophy (@DISEASE$)).	false
+564bb0bc8221797b2407d29b50c99f8ff5a9387a	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$, characterized by an early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles.	false
+13e099475f7568751cfe44473d4c4d6d4b8c2a57	Progressive dyspnea complicated by @PHENOTYPICFEATURE$ and massive hemoptysis in a 61-year-old man with extremity @DISEASE$.	false
+90905918d2205957fbbbf9d72612023ab71220ee	In the present study, the case of a 70-year-old male with thoracic @DISEASE$, who presented with a @PHENOTYPICFEATURE$ and exertional dyspnea, is reported.	false
+635467774041b95ae365379c78a12428ea00a197	For example, a large rib mass in a child with @PHENOTYPICFEATURE$ and malaise indicates a Ewing sarcoma, a mass with a calcified matrix is likely a @DISEASE$ or osteosarcoma, and a pulmonary artery mass is likely a leiomyosarcoma.	false
+b88146acab0a31707c129396b73c27be3975da4b	Lastly, we derived an Aggregate Expression Score (@DISEASE$), which quantifies the expression of all cyclin D1 interactors in a given @PHENOTYPICFEATURE$.	false
+38c575fe0cc656c4f771d7b72fcc036e8ee25a1f	Emerging evidence indicates that @DISEASE$ may play an important role in @PHENOTYPICFEATURE$ metastasis, but the molecular mechanism is still poorly understood.	false
+f1f43d9f0e926a4bac0f197b39ed9118c2f833f2	MRI, atomic emission spectroscopy (@DISEASE$) and fluorescent imaging were used to study MNP and drug accumulation rates and dynamics in CT26 @PHENOTYPICFEATURE$.	false
+0b8e02e1a530fe1eff6c9a0844738caad2f3aa97	Peak MNP accumulation in @PHENOTYPICFEATURE$ was detected by MRI 60 min post injection (pi) and the data were verified by @DISEASE$ and fluorescent imaging.	false
+529be953376ff9be5cbbdfe2f89d35cf5ab3acfb	Overall, anal sepsis, faecal incontinence and anorectal @PHENOTYPICFEATURE$ were the more common indications for @DISEASE$ while evacuation dysfunctions and anal pain were not always considered indications.	false
+a7c635252719ff923478e8f18c858c85ca7d06b9	Amino-terminal enhancer of split gene @DISEASE$ encodes a @PHENOTYPICFEATURE$ and metastasis suppressor of prostate cancer.	false
+613c717a0d2eaf2c2f5f80ac4d46ffe244ad254a	The predictive function of @DISEASE$ and PEI on @PHENOTYPICFEATURE$ response were analyzed by ROC curve.	false
+2072becb9628dbaaa5433cd8794037cc72f2b7e3	Mice bearing TT @PHENOTYPICFEATURE$ xenografts were treated with 37, 74, or 92.5 MBq of @DISEASE$ reagents, two injections of 74 MBq of AES reagents 45 days apart, or 37 or 92.5 MBq of 131I-F6.	false
+51687f3cb0a782098e0c20288a37698b903602cf	Mice bearing TT @PHENOTYPICFEATURE$ xenografts were treated with 37, 74, or 92.5 MBq of AES reagents, two injections of 74 MBq of @DISEASE$ reagents 45 days apart, or 37 or 92.5 MBq of 131I-F6.	false
+308980670d243b28d0b041152bb7b8e487c181a1	Few studies and comparisons have evaluated the outcomes of @DISEASE$ patients after hepatectomy, and no strategy has been defined for the treatment of AE patients with unresectable @PHENOTYPICFEATURE$.	false
+3517fa071723d4a35d378c3cdb8767ab1d829292	Few studies and comparisons have evaluated the outcomes of AE patients after hepatectomy, and no strategy has been defined for the treatment of @DISEASE$ patients with unresectable @PHENOTYPICFEATURE$.	false
+44d43449ea93af6d1f28a957d7b25b4f695f95c0	Treatment with the @DISEASE$ was highly efficient because @PHENOTYPICFEATURE$ growth inhibition was achieved over 150 days.	false
+c03dc2328e775b023534a54b81d0c738c344ca9c	Most @PHENOTYPICFEATURE$ are benign, and of these rhabdomyoma is the most common, followed by teratoma, fibroma, @DISEASE$, vascular tumors, and myxoma.	false
+513d06c788ac8fee4c722d9ccbae951b97026941	The other benign @PHENOTYPICFEATURE$ were nine fibromas, five lipomatous tumors, seven valvular fibroelastic papillomas, and one cardiac hamartoma (so-called @DISEASE$).	false
+397830b5a7ab89333e07323c82b51366a3c1def6	Other rare @PHENOTYPICFEATURE$, including @DISEASE$, hemangioma, germ cell tumors, and sarcomas, may occur in children in the heart and are discussed.	false
+2c1b6e648e9533c1c4dd922319d6333a600703bf	@DISEASE$ (Purkinje cell @PHENOTYPICFEATURE$) was the histological diagnosis in 11 of the infants with ventricular tachycardia.(ABSTRACT	false
+8dcb573c8c386ce27f463215f23791cc94bc2ea2	There were 12 patients with four histological @PHENOTYPICFEATURE$ types including a predominance of rhabdomyoma, as well as myxoma, fibroma and @DISEASE$.	false
+26ca7212088563d2e22d492b7c318a25e0fc87d6	Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by @PHENOTYPICFEATURE$, @DISEASE$ and anogenital and renal malformations.	false
+fbaff80874fa3b531509804cc98d7ad72f5d7f96	Toriello-Carey syndrome comprises @PHENOTYPICFEATURE$, @DISEASE$, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects.	false
+cce6ff329789c8bb2e28dc99d6147eb12c5890f9	Toriello-Carey syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia.	false
+62b50b682e4b6eeacf1eefc790651648c31ae9d2	Craniofrontonasal syndrome is characterized by coronal craniosynostosis, hypertelorism, @DISEASE$, a broad grooved nasal tip, dental anomalies, mild @PHENOTYPICFEATURE$, and broad thumbs.	false
+ef92da06701e9fd0747d15b4d22ebd33b3aa2694	The main manifestations included agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	false
+d96ee3c13912f3aeb1b4c3c20e133f2a69bef9c6	The main manifestations included @PHENOTYPICFEATURE$, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	false
+8727fe8794c7709d5274fddbd91a24f2fb16fb68	Toriello-Carey syndrome comprises @PHENOTYPICFEATURE$, @DISEASE$, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia.	false
+8c44b7a3d84ea6ed5f0cde0967cf5201b60e5785	The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, @PHENOTYPICFEATURE$, and typical facial changes including microcephaly, @DISEASE$, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+be2d905c667c192b5b43c04b68509fef908e3ba4	The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to @PHENOTYPICFEATURE$, seizures, and typical facial changes including microcephaly, @DISEASE$, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+fbdd71cf94dd88cc1c12fa939bb88a5ffa3ea1eb	One of them presented with @DISEASE$, @PHENOTYPICFEATURE$, amputated toes, and unilateral epiphora diagnosed as congenital nasolacrimal duct obstruction.	false
+095b14858890be5942a1d053ee89c5423b0d2889	Toriello-Carey syndrome comprises @PHENOTYPICFEATURE$, @DISEASE$, small palpebral fissures, Pierre Robin sequence, abnormal ears, nuchal laxity and cardiac defects.	false
+f5fa81a14d2314f0638a4ed397b9683ed13db40e	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, @PHENOTYPICFEATURE$, and hypotonia.	false
+6820245b084439b150e7d5f2eaf0e95371eb5503	Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by @PHENOTYPICFEATURE$, @DISEASE$, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.	false
+c28f0120573a655e9fa85dd3506f59e4515f6652	Statistical analysis of the respective rates of @PHENOTYPICFEATURE$-facial nerve interface, capsular rupture, recurrence, permanent and transient facial nerve dysfunction, and @DISEASE$ was performed.	false
+58280b44100e567dcefec7547ca72e6e2763cb52	During postoperative follow-up, 5 of the 23 patients with a benign @PHENOTYPICFEATURE$ exhibited facial nerve paresis, 2 developed CN IX to XII palsy, and 1 each developed @DISEASE$ and CN X palsy.	false
+14ee114d9364413102fb28e14a684564d84babe8	The patients were followed for 3 to 14 months, without postoperative complications, including pain, facial or auricular nerve weakness, salivary fistula, infection, @PHENOTYPICFEATURE$ recurrence, @DISEASE$, or depression deformity.	false
+179e6804680dedb7eada30dab4012d8f929bdd91	Several postoperative complications, such as facial paralysis, @DISEASE$, salivary fistula, infection, or @PHENOTYPICFEATURE$ recurrence, did not differ between the 2 groups (P?>?.05).	false
+ddf9b091c6de2a2e953b05e32b9cfcf58b737394	Facial palsy, salivary fistula, and @DISEASE$ have been reported as complications of @PHENOTYPICFEATURE$ resection.	false
+ac7111a80456d8f52a7b76fadeb0071ecdb1dd49	The risk of developing @DISEASE$ was lower in patients with malignant tumours than in those with benign @PHENOTYPICFEATURE$ (risk ratio 0.351, 95% confidence interval (CI) 0.155-0.594).	false
+36830816f2b01ab7e570f90934ab56d570e66459	The risk of developing @DISEASE$ was lower in patients with malignant @PHENOTYPICFEATURE$ than in those with benign tumours (risk ratio 0.351, 95% confidence interval (CI) 0.155-0.594).	false
+360083eb1252bdee46ef316f9dd49c4933a0f9cc	Only one @PHENOTYPICFEATURE$ recurred, and @DISEASE$ developed in only 6 patients (4%).	false
+6c9ec2c13eb0271897e236d8e7192b8481697034	Disease pathology, @PHENOTYPICFEATURE$ size, and adjuvant radiotherapy did not correlate with the severe @DISEASE$.	false
+cbfbe51797ff8dcfd1f17bc70206c46e981d15ae	The reconstructive surgeon must consider facial contour, avoidance of @DISEASE$, skin coverage, @PHENOTYPICFEATURE$ surveillance, potential adjuvant therapy, and facial reanimation when addressing parotid defects.	false
+569ce7d317b47abeb39fa5266c2e5e826583df46	The recurrence of @PHENOTYPICFEATURE$ and the morbidity rates of postoperative complications, such as transient facial nerve paralysis, permanent facial nerve paralysis, sensory deficiency, @DISEASE$, salivary fistulas, and xerostomia, were investigated.	false
+1a67473db38134474b3599f36b66f9b30f53ebd4	CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric @PHENOTYPICFEATURE$, neonatal severe hyperparathyroidism, and @DISEASE$.	false
+573d96e044dd354ee8912048626108e44ec78ee9	@DISEASE$ is characterized by a bilateral congenital @PHENOTYPICFEATURE$ of the facial and abducens nerves which leaves the subject with an expressionless "mask-like" face.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+a03d30b7d2ce0d95477fb07eca25a02f966db5e7	Autosomal dominant EEC syndrome consists of @PHENOTYPICFEATURE$, ectodermal dysplasia, and @DISEASE$ (CL/P).	false
+3237ed7840ef0132fc5465dc72744341c172a249	Distinguishing characteristics include @DISEASE$, isolated cleft palate, bilateral @PHENOTYPICFEATURE$, hypodontia, normal intelligence, and an autosomal-dominant mode of transmission with a high degree of penetrance.	false
+85910ab63252ce8410df2e38fb8da9e69fb640d9	These findings are consistent with @PHENOTYPICFEATURE$-ectodermal dysplasia-@DISEASE$ syndrome (EEC).	false
+797984c99901280d0cd0749b68227b0fcfc6a621	Congenital heart disease, @DISEASE$, @PHENOTYPICFEATURE$, and skeletal abnormalities were the commonest anomalies found.	false
+e9490686fa12920e1c5a418e4aedb65c3f194c9c	The case control pair analysis showed a significant protection after folic acid supplementation during the critical period of cardiovascular defects, @PHENOTYPICFEATURE$, @DISEASE$ and posterior cleft palate.	false
+caca2b5a76e1ded6c305dd3db571f81f7ba07c21	This patient resembles seven previously reported patients with the Beemer-Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median @DISEASE$, flat face, and @PHENOTYPICFEATURE$.	false
+f6f310df0fe108704dc11e7cad7841da91f1f3ac	Subgroup analyses were done for families where first infants had @PHENOTYPICFEATURE$, @DISEASE$, abdominal wall defects, limb reduction defects, pes equinovarus and congenital dysplasia of the hip.	false
+9ca212e2bfa4349c47c090e28c97c39eeea1a015	Van der Woude syndrome (VWS) is a dominantly inherited disorder characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e0ebfbfa263f6d78495e4841349a0e0bf2470d64	The combination of @PHENOTYPICFEATURE$, ectodermal dysplasia, and @DISEASE$ (EEC syndrome) is a rare type of congenital anomaly.	false
+26fc29469f2ffc3b19b03ca30f8841fe6ed3a09f	Moreover, NO2 increased risk of @PHENOTYPICFEATURE$, congenital heart disease, congenital polydactyly, cleft palate, digestive system abnormalities and gastroschisis, and PM10 was associated with congenital heart disease and @DISEASE$.	false
+f5f988c48bdd6065ae7b7a865509cc1a1053790f	The ratio of serum-type/brain-type Tf differentiates Alzheimer's disease from idiopathic @DISEASE$, which is an elderly dementia caused by @PHENOTYPICFEATURE$ of CSF.	false
+d5d8588d825eaf48a10f7b65968d5904bf883698	Our data suggest a frequent co-occurrence of idiopathic @DISEASE$ and vascular subcortical @PHENOTYPICFEATURE$; however, they do not support a direct causal relationship.	false
+3e8bc55f301f2e2e21e1e07d433a942acb03aad3	NPH may coexist with subcortical white matter vascular encephalopathy, because Binswanger's @PHENOTYPICFEATURE$ and idiopathic @DISEASE$ share common clinical symptoms.	false
+7d4d9fc0c68ffe215389d2507544848f250d97cc	NPH may coexist with subcortical white matter vascular @PHENOTYPICFEATURE$, because Binswanger's encephalopathy and idiopathic @DISEASE$ share common clinical symptoms.	false
+fc3995ea396146a2f68a679fba60a920c0420a03	Mice deficient for the Fanconi anemia complementation group A (Fanca) or @DISEASE$ (Fancc) gene seem to be diabetes-prone, as manifested by significant hyperglycemia and @PHENOTYPICFEATURE$, and rapid weight gain when fed with a high-fat diet.	false
+4b391bd9c380a9cc578286bdfac0f0ecfa1e02eb	@DISEASE$ (HMD) is a rare genodermatosis characterized by nonscarring alopecia, fiery red gums, perineal erythema, and @PHENOTYPICFEATURE$.	false
+6390a3b900a2eb59f46ebb2f4953f7ca3d3a9b0f	Seven had @PHENOTYPICFEATURE$ C; six, hepatitis B and C; three, hepatitis B; one, alcoholic cirrhosis; one, Bylar disease, one hepatic schistosomiasis, and one @DISEASE$.	false
+ab9da4c01aa7f8459abd3be40c0446a1af07c4e7	Prevalence of specific symptoms in the reference population was as follows: fever/night sweats, 51.1%; diarrhea, 51%; nausea/anorexia, 49.8%; dysesthesias, 48.9%; severe headache, 39.3%; weight loss, 37.1%; vaginal symptoms, 35.6% of women; sinus symptoms, 34.8%; eye trouble, 32.4%; cough/dyspnea, 30.4%; thrush, 27.3%; rash, 24.3%; oral @PHENOTYPICFEATURE$, 24.1%; and @DISEASE$, 4%.	false
+63b2d507ca5dbf803cd7d1a573a9a5ceade14341	Two articles on human papillomavirus (HPV) infection address the association between viral infection and neoplasia, as do reviews on viruses and lymphoma/@PHENOTYPICFEATURE$, and @DISEASE$-associated herpesvirus (human herpesvirus 8, HHV8).	false
+01c8c1ccaa77527d944647b4edabfbc4643c5a2c	To evaluate a potential biological relationship between TAT and acidic FGF (FGF-1), primary murine embryonic fibroblasts either were transfected with the viral transactivator or were transduced (retrovirally mediated) with a secreted, chimeric form of the human polypeptide growth factor, human @PHENOTYPICFEATURE$/@DISEASE$ (hst/KS)FGF-1.	false
+010348cc5d5c53352c93ec4bb6a26a6cae0f954c	We conducted a cohort study of the 1800 adult patients who initiated ART at the Haitian Study Group for @DISEASE$ and Opportunistic Infections (GHESKIO) in Haiti from 2003 to 2006, using baseline data to establish the prevalence and using follow-up data to establish the incidence of hepatitis, renal insufficiency, hyperglycemia, @PHENOTYPICFEATURE$, neutropenia, and thrombocytopenia.	false
+7c48cf8ce9788ac6c4dece310648c05ed9310adf	Frequent manifestations included cotton-wool patches and retinal hemorrhages, while lacrymal hyposecretion, palpebral and conjunctival @DISEASE$, ocular palsy, @PHENOTYPICFEATURE$, herpes zoster, papillar oedema, cytomegalovirus retinitis and periphlebitis were less frequent.	false
+7d9aacbea563c4f71c27153802255b5c14582f38	Otologic manifestations include otitis externa, otitis media, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3fc20474242930d33692b97154e0584a8b0762d7	The authors describe a case of a 61 year old man suffering from @DISEASE$ with pulmonary involvement associated with a hairy cell @PHENOTYPICFEATURE$.	false
+8729af7ac0e3a951b62eba86e385da2e31209c6c	A man with acquired immunodeficiency syndrome (AIDS) and widespread @DISEASE$ (KS) presented with a transtibial amputation secondary to foot infection and intractable @PHENOTYPICFEATURE$.	false
+4145d0c6f897c3d6573c7cb858a091bdf7e026c2	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (@DISEASE$), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @PHENOTYPICFEATURE$ or hyposmia.	false
+6d5f6dc9cdf97fe6df581dc3f64b91efb525b158	Two patients had rheumatoid arthritis, 2 patients had @PHENOTYPICFEATURE$, 1 had @DISEASE$, and 1 patient had an undifferentiated seronegative polyarthritis diagnosed as rheumatoid arthritis.	false
+caab7608fa097d49c3e8e23b72c3278996c3126f	We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6 gene previously associated with @PHENOTYPICFEATURE$ and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and @DISEASE$ (GCA).	false
+28610aa9776ae0d2000b820a1492593281f02852	CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or @PHENOTYPICFEATURE$; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Beh?et's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), @DISEASE$ (GCA) or Immune thrombocytopenia (ITP).	false
+e52c076b07b7d7460634565f90d14d31813398b3	Some of these manifestations are aspecific and very frequent, such as oral aphthosis, which can be the first manifestation in patients with @PHENOTYPICFEATURE$; some are potentially dangerous, such as jaw claudication during the course of @DISEASE$; and some are very rare but peculiar, such as strawberry-like gingivitis in patients with granulomatosis with polyangiitis.	false
+743c41a83366a3e5eadb5f8505955ecf7e3d0139	Careful consideration of underlying diseases that result in chronic inflammation, such as @DISEASE$ lesions, should be included in the differential diagnosis of idiopathic canal @PHENOTYPICFEATURE$ in the absence of prior otologic surgery or trauma.	false
+39b694be858531fa74b316ce363b607e1a866da5	@DISEASE$ (BCCs) are the most common type of @PHENOTYPICFEATURE$ and usually found high in the neck.	false
+d3cd72f0b8bca0104bc04b8a5c5a47f6c4dd3c6d	We describe a 6-year-old girl with congenital external auditory canal atresia, microtia, and @PHENOTYPICFEATURE$ of mastoid and middle ear in addition to the first @DISEASE$ abnormalities.	false
+4fa9f4be3dd63776fc985d8e8748bf9ac71a4ad5	This case, in which a prenatal sonographic diagnosis of @DISEASE$ was made, illustrates the importance of following up on a history of paternal @PHENOTYPICFEATURE$.	false
+ae6d01e8470a4692e7794be9e28ad447b7cd4dd4	@DISEASE$ is characterized by ectrodactyly, @PHENOTYPICFEATURE$, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	false
+ab0146080be8b723ec6818e7bbb5b4afe665e056	In 1993, we described an autosomal-dominant syndrome in a German family characterized by ectrodactyly/@PHENOTYPICFEATURE$, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (@DISEASE$, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+520733a35ff6eb38061902f6e839b7127e0c576d	[@DISEASE$ in a patient with progressive @PHENOTYPICFEATURE$].	false
+911fb16e8532b5af305204c6d986a40dfa352985	The relationship between vitamin D and the craniofacial and @PHENOTYPICFEATURE$ of the @DISEASE$ syndrome.	false
+18999a5be4b0268f13871cfe245da521693ba2be	@DISEASE$ (WS) is a rare autosomal recessive @PHENOTYPICFEATURE$ disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy.	false
+e8086b68707b52a1c50fa64661ff1101996eeb04	@DISEASE$ (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus and optic atrophy.	false
+2fda63bf4bc4505e81792db3b2a1bbaee693644e	@PHENOTYPICFEATURE$ in a mouse model for @DISEASE$.	false
+5d0c5076005376ece2d5a73ff01f27e8557c3362	@PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+0dbb9623d4accc908d33b998cf80a6407198bb6b	@DISEASE$ is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and @PHENOTYPICFEATURE$.	false
+777d3221d908955181f6eabc344688f962f13170	Cochlear implantation improved auditory performance in a @DISEASE$ IVA patient with postlingually severe-to-profound @PHENOTYPICFEATURE$.	false
+f3f3f8f3987cdb47c669882e789c30e5ce333767	@DISEASE$ IIIB is caused by a marked decrease in N-acetyl-?-d-glucosaminidase (NAGLU) enzyme activity, which leads to the accumulation of heparan sulfate in key organs, progressive @PHENOTYPICFEATURE$, and neurocognitive decline.	false
+1b1480c8b5a4806df94e5006b8e4e285826b57c9	Although severe progressive @PHENOTYPICFEATURE$ is a common feature of @DISEASE$ IVA, no detailed description of cochlear implantation for mucopolysaccharidosis IVA has been reported.	false
+7568d70c9d8b7800a77f31dc6a230f0e81053df1	Although severe progressive @PHENOTYPICFEATURE$ is a common feature of mucopolysaccharidosis IVA, no detailed description of cochlear implantation for @DISEASE$ IVA has been reported.	false
+bab739fa50ad440110dcf4f098f8cb4aa2b3b7a2	Type II @DISEASE$ (MPS II) commonly known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, which in turn causes otorhinolaryngological manifestations, including @PHENOTYPICFEATURE$ (SNHL).	false
+37cfdf12712188eca8b65a53007385660662cd6e	Improvements in @PHENOTYPICFEATURE$ after cord blood transplant in patients with @DISEASE$.	false
+f851c945e2494af22c6e6b3667f5a0e3b4aa2df1	While corneal clouding has been reported in inborn acid @DISEASE$, congenital or infantile @PHENOTYPICFEATURE$ with deranged metabolism of proteoglycans (acid mucopolysaccharide-xylose-protein complex) is reported in children for the first time.	false
+914686a474e54f5effda5d677d60b55e34632484	Recently described inherited human diseases due to defects in spectrin or ankyrin include @DISEASE$ and a @PHENOTYPICFEATURE$, termed sick sinus syndrome with bradycardia or ankyrin-B syndrome.	false
+9a7bc16272d37bc210a70665b3891583350b1d29	This study aimed to clarify the characteristics of acute encephalopathic episodes in patients with congenital adrenal hyperplasia (@DISEASE$), which we termed "CAH-associated @PHENOTYPICFEATURE$ (CAHE)."	false
+4c68a56175349e56ea57ab3ca9679241fd8ec45c	We describe @PHENOTYPICFEATURE$ and neuropsychological outcome obtained after @DISEASE$ in patients with TLE and normal MRI evaluated in the modern imaging era.	false
+d016b5d884e9a93fe6d3829839ce35c3dc819a19	Corticoamygdalohippocampectomy (@DISEASE$) improves @PHENOTYPICFEATURE$ control, quality of life, and decreases mortality for refractory mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS).	false
+06d64a75d95623227492617bf029075f4231c13f	In the @DISEASE$ group, patients who had no postoperative IEDs showed a higher @PHENOTYPICFEATURE$-free rate compared to those with IEDs (78.2% vs 56.6%, p=0.003;	false
+8c5da6ee617159dd6d490db5b6f1bcb201b083ad	We investigated @PHENOTYPICFEATURE$ in 22 children with congenital adrenal hyperplasia (@DISEASE$), eight of whom had seizures associated with fever.	false
+96d5f4ffe88500b92e6475696c56ca468cfebbf7	We investigated seizures in 22 children with congenital adrenal hyperplasia (@DISEASE$), eight of whom had @PHENOTYPICFEATURE$ associated with fever.	false
+946dad5bf4657c6d69decbe57d437909ed0e858c	A shorter isovolumetric relaxation time in patients with @DISEASE$ may be a sign of mild @PHENOTYPICFEATURE$.	false
+ebe0785e48b50d3206bccc2a2afd3d5a285e4f89	The aim of this study is to analyze areas of atrophy, not always detected on routine MRI, comparing patients who became @PHENOTYPICFEATURE$ free (SF) with those non seizure free (NSF) after @DISEASE$, in an attempt to establish possible predictors of surgical outcome.	false
+fc68ee35f614e1fb302bd9230a0755e755eddcbe	The aim of this study is to analyze areas of atrophy, not always detected on routine MRI, comparing patients who became seizure free (SF) with those non @PHENOTYPICFEATURE$ free (NSF) after @DISEASE$, in an attempt to establish possible predictors of surgical outcome.	false
+a00ea27806be8e09f8e2b1144b3e7113cc16f134	We conducted this study to compare the occurrence and prognostic significance of early postoperative interictal epileptiform discharges (IEDs) on @PHENOTYPICFEATURE$ outcomes between corticoamygdalohippocampectomy (@DISEASE$) and selective amygdalohippocampectomy (SAH).	false
+74be351445e48b0fd2bfa3c827d5240e6887e837	Unlike in patients with @DISEASE$, the presence of IEDs after SAH was not a predictor of @PHENOTYPICFEATURE$ recurrence.	false
+8236d65587845e98b7d61510e5387235a4e0e4dc	Although @PHENOTYPICFEATURE$ in CAH have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between @DISEASE$ and febrile seizures on the chromosome 6.	false
+65427b89666bbf33946a86a5886471eab1415f11	Although @PHENOTYPICFEATURE$ in @DISEASE$ have been ascribed to hypoglycemia and/or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between CAH and febrile seizures on the chromosome 6.	false
+cdd8bd27672eabb91bb66f2baf9260342eb80245	The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, @PHENOTYPICFEATURE$, neurological diseases like epilepsy or deafness and even 'developmental' defects such as @DISEASE$.	false
+ed9f74adaa3a3e681b7f9dfcf6dd6d726efc046b	Resolution of optic nerve @PHENOTYPICFEATURE$ and improved visual function after optic nerve sheath fenestration in a patient with @DISEASE$.	false
+7d2e878e2b5f65498072bec2c8b11babb4dd4656	Individuals with visual loss and optic disk edema that is associated with @DISEASE$ may benefit from ONSF if the optic canals appear to be open and the optic nerve @PHENOTYPICFEATURE$ is thought to be related to increased intracranial pressure.	false
+c7f986a84605fbbced7c1a7603bbe6fff1258241	We report a 3-month-old male child presented with chest infections, @PHENOTYPICFEATURE$ and hepatosplenomegaly and diagnosed with @DISEASE$ associated with acute myeloid leukaemia M3 type (AML-M3).	false
+580fc0d15348ce5950dbfebaaacfa17e44ce0b23	I. Familial @PHENOTYPICFEATURE$ and craniometaphyseal dysplasia; their relation to leontiasis ossea and @DISEASE$; disorders of bone remodeling.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+47b0b5bf6877b9a9063b9de895a680f22f3af652	Examples of such causal therapy include aminopyridines for downbeat nystagmus and episodic ataxia type 2; carbamazepine for vestibular paroxysmia, paroxsymal dysarthria and @PHENOTYPICFEATURE$ in multiple sclerosis, and superior oblique myokymia; betahistine, dexamethasone, and gentamicin for Meni?re's disease; gabapentin and memantine for different forms of acquired and congenital nystagmus; corticosteroids for acute vestibular neuritis and @DISEASE$; metoprolol and topiramate for vestibular migraine; and selective serotonin reuptake inhibitors such as paroxetine for phobic postural vertigo.	false
+790599396eb7840b54af3d3fc26c6743ef288ad8	@DISEASE$ (WAS), also known as ophthalmo-acromelic syndrome or anophthalmia-@PHENOTYPICFEATURE$, is a rare congenital disorder that segregates in an autosomal recessive pattern.	false
+56d774a9e2d653b4d8141c6c0d3825694e5fd2e1	The goal of the study is to assess whether ivermectin treatment decreases the frequency of @PHENOTYPICFEATURE$ and leads to seizure freedom in @DISEASE$ patients, including patients with NS.	false
+1713c2ea1c7d7ac5d1bec21daf92ba57f269793c	The goal of the study is to assess whether ivermectin treatment decreases the frequency of seizures and leads to @PHENOTYPICFEATURE$ freedom in @DISEASE$ patients, including patients with NS.	false
+19b5b22c52633d8630048e70a0bfc8b13c380cdc	Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, @DISEASE$, and?anophthalmia-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+99e19cd71573f0745076f862188c71a41d0fd15a	Waardenburg anophthalmia syndrome, also known as @DISEASE$, ophthalmoacromelic syndrome, and?anophthalmia-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+290200cba6b2b87f5ba4d4e8c347cf30e92cc532	@DISEASE$, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and?anophthalmia-@PHENOTYPICFEATURE$, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23.	false
+5cedb8c48ab7c9f5716a599807f80b461c03a5e1	One patient with mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and strokelike episodes (MELAS) and her mother in group 2 had @DISEASE$ abnormalities, which also suggested mild to severe hearing impairment.	false
+95d6b8de128c73919aafc6be26f556901e3d4d43	In this paper, a new feature extraction methodology based on optimum allocation sampling (@DISEASE$) and Teager energy operator (TEO) is proposed for detection of @PHENOTYPICFEATURE$ EEG signals.	false
+3d4cf84e5fce2ddf1b0ee376cd200d475b7822b1	SS patients with @DISEASE$ had also more severe ventricular hypertrophy than @PHENOTYPICFEATURE$.	false
+c9dda9439982c83b4e5e4f22caaee0812706d7a7	@PHENOTYPICFEATURE$ caused by inhaled nitric oxide therapy in two patients with pulmonary hypertension associated with the @DISEASE$.	false
+3a7dd9b12e91b8327b500ab69ea6f14cd7a37b73	We describe two of nine patients with PAH and @DISEASE$ who had @PHENOTYPICFEATURE$ develop during acute iNO testing.	false
+bc43eb80fdc9a0af86c8ffc6528e7a3cfc1c217b	Thus, about 15% of @DISEASE$ cases are indistinguishable from cases with non-syndromic @PHENOTYPICFEATURE$.	false
+750b9f99dfcc5ee6c6bc477c6b7e6d28e399b84c	Two had lower lip pits, a cardinal sign of @DISEASE$, but the other had a heart-shaped mass on lower lip without pits, @PHENOTYPICFEATURE$, or hypodontia.	false
+3a7933ac008a3c6983ba79a9efac4784d7e99912	7-month-old girl with a combination of @DISEASE$ and ring chromosome 18 showed the following malformations: medial palate cleft, fistulas of the lower lips, @PHENOTYPICFEATURE$, epicanthus, antimongoloid position of the eyelids, a small hymenal appendix, plantar placing of the third toe, atrial septum defect, stenosis of the auditory canal.	false
+4d22f82fd2601d739d7fcdf42d9262744832b30b	Recently, the IRF6 contribution that was reported for @DISEASE$ and non-syndromic @PHENOTYPICFEATURE$ was extended to isolated tooth agenesis.	false
+1d236378b536187271e7297f23cec98364e295db	@DISEASE$ is known to be the first syndromic cause of @PHENOTYPICFEATURE$.	false
+d298797c2c8bf21be7b8ba001fbafe528b993c6b	IRF6 mutations are the major cause of @DISEASE$; however, variants in this gene show strong association with non-syndromic @PHENOTYPICFEATURE$, with a higher increased risk among cases with cleft lip only (CLO).	false
+6148e3bad8bec3f56dd2474e9820b0a4256e488c	Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic @PHENOTYPICFEATURE$ could be most likely an evidence for @DISEASE$.	false
+5284a64acc4f519558cae192387cb75464665635	Our results confirm the crucial role of IRF6 in the @DISEASE$ patients and further work is needed to explore for its function in the non-syndromic @PHENOTYPICFEATURE$ with vary clinical features.	false
+b69417b3b2be5cfec1b0473035c359d1cbaa5446	He presented with severe growth retardation, skull defects, proptotic eyes, @DISEASE$, and severe @PHENOTYPICFEATURE$.	false
+89a32a80acb69c3f3053afb85aab3ce7c8699aff	He presented with severe @PHENOTYPICFEATURE$, skull defects, proptotic eyes, @DISEASE$, and severe micrognathia.	false
+415150b9ff414834cfa08be3baf639c369dc48d4	Dysmorphological features detected in baby were intrauterine growth retardation, @PHENOTYPICFEATURE$, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with thin upper lip, @DISEASE$, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles.	false
+d229dc5a6814a6efc57672767b2e9e4881889a7b	Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with @PHENOTYPICFEATURE$, @DISEASE$, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles.	false
+ca226e1c53a01a3fd53d4d1247e927032862fa29	Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, @PHENOTYPICFEATURE$, very small an bow-shaped mouth with thin upper lip, @DISEASE$, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles.	false
+8b1cbbb63fc26f65e7c718f7d8d2df5b27f67705	resulting in dysmorphic features, cardiac abnormality, @DISEASE$, respiratory problems, severe @PHENOTYPICFEATURE$ and developmental delay.	false
+8d2598588e49a8b05e1314c61729ebb0811b8105	resulting in dysmorphic features, @PHENOTYPICFEATURE$, @DISEASE$, respiratory problems, severe growth retardation and developmental delay.	false
+bbcac45eab147bcb000a235abf0a50f57a1d8520	At delivery, the proband displayed dysmorphic features of hypertelorism, @PHENOTYPICFEATURE$, low set ears, @DISEASE$, clubfeet, omphalocele, absent gallbladder and congenital heart defects.	false
+0103cdf9cddb35d377e89f2c2d2d2c17da7dcfa0	At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, @DISEASE$, clubfeet, omphalocele, absent gallbladder and @PHENOTYPICFEATURE$.	false
+00db77fb7a3411cbd265ac93e823f6b9b94173de	At delivery, the proband displayed dysmorphic features of @PHENOTYPICFEATURE$, micrognathia, low set ears, @DISEASE$, clubfeet, omphalocele, absent gallbladder and congenital heart defects.	false
+1ef3be8c0a8be88f2696d63faa04235b7decff1a	The facies are unusually flat with @PHENOTYPICFEATURE$, frequent @DISEASE$, hypertelorism, and micro-ophthalmia.	false
+1770bc1f2cba7ab429aad427ac3cf861af0d578d	The facies are unusually flat with micrognathia, frequent @DISEASE$, @PHENOTYPICFEATURE$, and micro-ophthalmia.	false
+f72a2d5d61518335ee5ffa98f30448d732150169	Of 114 children with oesophageal atresia, 6 had @DISEASE$ and other craniofacial anomalies present included cleft lip, @PHENOTYPICFEATURE$, hypertelorism, microcephaly, and hydrocephalus.	false
+43aef4be2c251ed7971ca6f16db207fed8885b9a	Of 114 children with oesophageal atresia, 6 had @DISEASE$ and other craniofacial anomalies present included cleft lip, micrognathia, @PHENOTYPICFEATURE$, microcephaly, and hydrocephalus.	false
+40add696918fe991763ba5e09c3750b5ce7595b1	Of 114 children with oesophageal atresia, 6 had @DISEASE$ and other craniofacial anomalies present included cleft lip, micrognathia, hypertelorism, microcephaly, and @PHENOTYPICFEATURE$.	false
+b2ce34ed1f2a4569543648395edad44f4ce961ac	The child had a diaphragmatic hernia, @DISEASE$, hypoplastic and absent digits, micrognathia, long philtrum, @PHENOTYPICFEATURE$, and anteverted nose.	false
+b79fd230be0310f62535c524a8e32e0646994c37	The child had a diaphragmatic hernia, @DISEASE$, hypoplastic and absent digits, @PHENOTYPICFEATURE$, long philtrum, thin upper lip, and anteverted nose.	false
+b3210d985986a9d977d28b8f2d63da81d91ac08d	Dysmorphic features included hypertelorism, broad nasal root, long philtrum, severe @PHENOTYPICFEATURE$, microstomia, @DISEASE$, and lobulated tongue.	false
+62732f9e7bd3c7455792b38e00b7ddd063ac2bf1	Dysmorphic features included @PHENOTYPICFEATURE$, broad nasal root, long philtrum, severe micrognathia, microstomia, @DISEASE$, and lobulated tongue.	false
+09d5f3ec8bef1356a42f0b91fa1aa64c6e87b4e6	The facies appear distinctive with globular head, prominence of the eyes, @PHENOTYPICFEATURE$, @DISEASE$, micrognathia, and abnormal pinnae.	false
+cee5593dc2610db380085f184161ce85a9b2f4be	The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, @DISEASE$, @PHENOTYPICFEATURE$, and abnormal pinnae.	false
+5793f3c543b573246e458407fb281f84e6d9992b	The phenotype was characterized by severe @PHENOTYPICFEATURE$ with short and abnormal extremities, @DISEASE$ with micrognathia and knee hyperlaxity.	false
+ebbc1f1bbf05d11d389ef582cfa64534892856a8	The phenotype was characterized by severe growth retardation with short and abnormal extremities, @DISEASE$ with @PHENOTYPICFEATURE$ and knee hyperlaxity.	false
+c88d96f75949ebb04a2602d01cd5208d3ff443ae	This is the fourth case reported to date and is the first documented case of an oncological process- an intraventricular atypical choroid plexus papilloma @PHENOTYPICFEATURE$-found in association with @DISEASE$.	false
+6d0d39659f796f40f163e5d566984b5dd5655eb4	Reported data are consistent with the classification of this @PHENOTYPICFEATURE$ in the category of glucagonoma with the "@DISEASE$".	false
+9d3808ffdb221e49fb04df62badb2dc14b4de31b	Reported data are consistent with the classification of this @PHENOTYPICFEATURE$ in the category of @DISEASE$ with the "glucagonoma syndrome".	false
+ce9981d3d4e936ae80ab417771daf15b4c0b6222	[Necrolytic cutaneous erythema and pancreatic @PHENOTYPICFEATURE$: the @DISEASE$].	false
+8258437fe31eac65baf24877d370a2ad7a6cddf6	[A rare pancreatic @PHENOTYPICFEATURE$: the @DISEASE$ (author's transl)].	false
+d599cc346f7f22b963c157f760b28f66896eae5a	The @PHENOTYPICFEATURE$ manifested as @DISEASE$ with generalized NME.	false
+25bcd61e72e5a2ac56dc54fde8e4343e6116f764	@DISEASE$ @PHENOTYPICFEATURE$ and syndrome.	false
+5a44fc9408727ac0e20a1b257525b0d09b9fd39e	@DISEASE$ is a rare @PHENOTYPICFEATURE$ and this presentation of small bowel infarction associated with pancreatic glucagonoma would appear to be a unique event.	false
+2e35f290e315bae4ca67acf32f9c4729fafb3890	Glucagonoma is a rare @PHENOTYPICFEATURE$ and this presentation of small bowel infarction associated with @DISEASE$ would appear to be a unique event.	false
+38398b745a6a6c8cb5d5a8b8c1f21357305f6741	@DISEASE$ and the glucagonoma syndrome - cumulative experience with an elusive endocrine @PHENOTYPICFEATURE$.	false
+f664ce811f17d30ccfb5563b1fb3f2d6ddf42904	Glucagonoma and the @DISEASE$ - cumulative experience with an elusive endocrine @PHENOTYPICFEATURE$.	false
+ef2e00752f79576a93e73a808fcdbbf7b66c32b6	Intravascular @PHENOTYPICFEATURE$: a previously unreported finding of @DISEASE$.	false
+3eeb03c806dc923b325ded785e436cac0569b074	[Mallison's @PHENOTYPICFEATURE$ (@DISEASE$)].	false
+8a4f1321752b849410e35e1d5f33442d8f3caaf7	[@DISEASE$ as a @PHENOTYPICFEATURE$ found by the therapist].	false
+f2d1e1f76681ef84f59a6a6c68c9ea70499fba40	Studies of @PHENOTYPICFEATURE$ may provide an informative neurophysiologic approach for studying disturbances in basal ganglia and frontal cortical function that have been observed in functional neuroimaging and neuropsychological studies of @DISEASE$.	false
+35243557adf4178f7edddc386c86a18013720e98	Five clinical variables (articular @PHENOTYPICFEATURE$, radiating pain, limited mouth opening, clicking, and clinical stage) and five imaging findings (disc displacement, effusion location, disc morphology, osteophytes, avascular necrosis, and @DISEASE$) were evaluated.	false
+27cec969e6bf58451d57728b591d169fbb34b352	Novel statistical analysis methods were used to identify four traits that co-segregate: @PHENOTYPICFEATURE$, hepatic abnormalities, @DISEASE$, and cardiac abnormalities.	false
+6aa8c95692034d47209e94ba87e4664c3ca3024a	Our data show that mutations in the PEX7 gene may result in a broad clinical spectrum ranging from severe @DISEASE$ to relatively mild RD and that clinical diagnosis of conditions involving retinitis pigmentosa, @PHENOTYPICFEATURE$, and polyneuropathy may require a full screen of peroxisomal functions.	false
+442ac60c9de65ae0d34b751a61fe5683f3c79b7c	X-linked immunodeficiency with magnesium defect, EBV infection, and @PHENOTYPICFEATURE$ (@DISEASE$) disease is caused by deficiency of the magnesium transporter 1 (MAGT1) gene.	false
+def0065415abca3502139199b9a0ca043e8e310b	We have recently characterized a novel PID now named "X-linked immunodeficiency with magnesium defect, EBV infection, and @PHENOTYPICFEATURE$" (@DISEASE$) disease characterized by loss-of-function mutations in the gene encoding magnesium transporter 1 (MAGT1), chronic high-level EBV with increased EBV-infected B cells, and heightened susceptibility to EBV-associated lymphomas.	false
+fbfd73fad5ceb51e383ab7d6032fe537e66d4b3d	Serial weight- and length-for-age z-scores were computed as part of a retrospective study of 100 infants who underwent hepatoportoenterostomy (@DISEASE$) for @PHENOTYPICFEATURE$ at 9 U.S. pediatric centers between 1997 and 2000.	false
+f5f6b02ae184d9d4e9f01256b7653ad9f1795591	We reported a modification of the hepatic portoenterostomy (@DISEASE$) for @PHENOTYPICFEATURE$ with favorable results.	false
+7ebde0e59826eb00f110a525c1f375adbfff9149	This study examined the effect of the prone position on mechanically ventilated patients with hydrostatic @PHENOTYPICFEATURE$ (@DISEASE$).	false
+48381c7bb0a90feb0b927bb46fa67e33b0daffe2	@PHENOTYPICFEATURE$ (BA) is the most common reason for liver transplant in childhood, and outcomes worsen with older age at hepatoportoenterostomy (@DISEASE$).	false
+6215e1c16091ae5064a16a5a009587cea3dcc750	The role of portable, anteroposterior, supine chest X-rays (CXRs) in distinguishing hydrostatic pulmonary edema (@DISEASE$) from permeability @PHENOTYPICFEATURE$ (PPE) in mechanically ventilated patients is controversial.	false
+497700a69cc08dffb2d80f9acec5262633f6a2d1	The role of portable, anteroposterior, supine chest X-rays (CXRs) in distinguishing hydrostatic @PHENOTYPICFEATURE$ (@DISEASE$) from permeability pulmonary edema (PPE) in mechanically ventilated patients is controversial.	false
+215dfb2dea2157b2f6fff830e2d7c9e2df2908bc	The progression of hepatic fibrosis may result in decompensated hepatic failure with cirrhosis, liver related events (LRE) such as ascites, variceal bleeding, and death after successful and timely Kasai hepatoportoenterostomy (@DISEASE$) in @PHENOTYPICFEATURE$.	false
+c7c9baedb138c6e4292d992df0f4a2eadfcc4776	To determine the role of redo hepatic portoenterostomy (@DISEASE$) in @PHENOTYPICFEATURE$ (BA) patients with insufficient bile excretion after the initial HPE, 25 patients (type I, correctable: 2; type III, uncorrectable: 23) undergoing the initial HPE at 25 to 119 days of age were studied.	false
+584c0cc8b61dbcfbdea96508022ed841d347f57d	@DISEASE$-diencephalic @PHENOTYPICFEATURE$: sequence or pleiotropy?	false
+5407a030db298a6192c10a416531752dadedae39	The hepatic portoenterostomy (@DISEASE$) is the accepted initial operation for biliary reconstruction for @PHENOTYPICFEATURE$, but in a select group of patients with patent distal extrahepatic bile ducts (PDEBD), a hepatic portocholecystostomy (HPC) may also be considered.	false
+29f4ce33fe410d11f54ad759b0164eee4ea84674	The aim of this study was to address the perioperative aspects of hepatoportoenterostomy (@DISEASE$) for @PHENOTYPICFEATURE$ (BA), through the study of a 15-year, single-center experience of the management of this disease.	false
+bb3a68e68f86bc51fa8039347fbdaae5b26ec454	Adult P. @DISEASE$ meningitis had an acute clinical course, with @PHENOTYPICFEATURE$ and consciousness-disturbance occurring as most prominent clinical manifestations in all patients.	false
+e39374ced4239a9cb58c63003cabfd817311dce7	Multiple dysplastic liver nodules in PFIC2 underscore risk for @PHENOTYPICFEATURE$ associated with functional @DISEASE$.	false
+aa239e9ecd186747e7a93a5b4f05067472856e46	Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; @DISEASE$ of @PHENOTYPICFEATURE$.	false
+e423a0e72b1ecf7c40f4b29579196830a81bc10c	Two infants with the @DISEASE$ of @PHENOTYPICFEATURE$ underwent flexible fibre optic bronchoscopy.	false
+05070ecc95ffc43b9e1096abe8376777b8abd25b	@DISEASE$ is characterized by short trunk dwarfism associated with rib and @PHENOTYPICFEATURE$.	false
+4060ef84550955af3aedb083c3a3beaaedfc4349	Jarcho-Levin syndrome (spondylothoracic or @DISEASE$) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+7e6324b57182622701c801fe4f76d3460e028a49	@DISEASE$ (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple @PHENOTYPICFEATURE$.	false
+0c309c8c065d90f694f195d87dc1fb9496d33b10	Features of @DISEASE$ were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 @PHENOTYPICFEATURE$; (3) frequent vertebral anomalies were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) short stature was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	false
+48c2fd47f0d16696ba122b4af3461dd01304bf24	Features of @DISEASE$ were: (1) anomalies involved the thoracic region in all cases; many also involved the cervical spine; (2) most patients had >or=4 vertebral anomalies; (3) frequent @PHENOTYPICFEATURE$ were butterfly vertebra, hemivertebra, complete block, and unilateral bar, which were associated with both rib absence and fusion; (4) short stature was not always present at birth; and (5) complete block was 1 factor identified as being related to short stature after 12 years of age.	false
+22babe4c8d8b882934047b4f4e32cf9e711a28cc	Nonskeletal malformations in one of three siblings with @DISEASE$ of @PHENOTYPICFEATURE$.	false
+59ab275a6870c22a94bc39822f852f59f0e21a37	@DISEASE$ is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and @PHENOTYPICFEATURE$.	false
+a9e6b5fe1a75360db7f77ce282f1abb3e4429006	@DISEASE$ is characterized by "crab-like" rib cage deformity and multiple @PHENOTYPICFEATURE$ that cause respiratory failure.	false
+2bb508d069af6293efdb93b3e7f0121b7176d01f	@DISEASE$ is characterized by dysmorphic dwarfism at the expense of the trunk, with typical costal and @PHENOTYPICFEATURE$ that cause displacement of the intrathoracic and intra-abdominal organs and reduced pulmonary function.	false
+2bd76da82e55870fd24745abd462c3993f6a36ac	There were no significant differences between AH and OH infants with @PHENOTYPICFEATURE$ (9.6% vs. 7.6%), developmental delay (5.4% vs. 5.0%) or any other component of @DISEASE$.	false
+9552db3abeb8a55b3e086e26a9f9cd3ff96f1b1f	ENF density has been shown to be diminished in diabetic neuropathy as well as other focal and generalized sensory-predominant neuropathies, including the neuropathy associated with anti-retroviral therapy, idiopathic small-fiber @PHENOTYPICFEATURE$, @DISEASE$, and diabetic truncal radiculopathy.	false
+4583bbcae77cf82353f109eb442b03e38e87ca54	A co-transmission of idiopathic @PHENOTYPICFEATURE$ and @DISEASE$ is probable in our patient.	false
+438ffde2f12070e892d3985ea8d773b5c509de9d	The primary outcome was moderate/severe functional disability (@DISEASE$) at 2-3 years follow-up defined as developmental delay (Griffiths Mental Developmental Scales general quotient or Bayley Scales of Infant Development-II mental developmental index >2 standard deviations below the mean), @PHENOTYPICFEATURE$ (unable to walk without aids), deafness (requiring bilateral hearing aids) or blindness (visual acuity <6/60 in the better eye).	false
+0484337576b162c70edf5d3b147fbd0d50592748	We did not find any other association of @PHENOTYPICFEATURE$ and @DISEASE$ in the literature.	false
+a35fcd2ac7fbf10061e4a0b7ab2ecb4455c7a4b2	Sixty-nine newborns with PROM had @DISEASE$ (RDS), incidence of which was 9.7% (69/711): 10 (5.1%) term newborns and 59 (11.5%) preterm newborns, of whom 3 developed broncho-pulmonary dysplasia Among all patients with PROM, 25% (178/711) newborns had different infectious diseases: 92 (12.9%) had pneumonia and 63 (8.9%) had septicemia, which totally accounted for 87.1% of the patients with infectious diseases, 23 (3.2%) newborns had other infectious diseases including peritonitis, purulent meningitis, urinary system infection, @PHENOTYPICFEATURE$, perianal infection and conjunctivitis, which accounted for 12.9% of the patients with infectious diseases.	false
+8490d417c5840fee7fdeeb31c9ab09ef4765f4ce	The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (@DISEASE$, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 @PHENOTYPICFEATURE$).	false
+4ac8a1fa5a83853f2420a2dcd3256c76b4726de3	These sites represent the most common variants in Tay-Sachs disease, @DISEASE$, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and glycogen storage disease type III.	false
+edd5e30036820a893f034402b93b3e48fa1c1ea9	Patient II presented with @DISEASE$, small jaw, @PHENOTYPICFEATURE$, underdeveloped thumbs and on radiographs, cervical kyphosis with an underdeveloped C4.	false
+93f7af3c04862c6051bb4e49f53628d488244f4e	Mouse cartilage matrix deficiency (cmd) is an autosomal recessive mutation characterized by @DISEASE$, @PHENOTYPICFEATURE$, tail and snout.	false
+2677d88f4ca0d1940bbc27181bbf65f8388088e2	Two spontaneously aborted; one survived 1 day after term delivery, and had @PHENOTYPICFEATURE$, bell-shaped thorax, 11 ribs, absent thumbs, and @DISEASE$.	false
+8da715196d0733e48acff87539c37126fa9c5bc5	A 52-year-old male with short stature due to @PHENOTYPICFEATURE$, a @DISEASE$ and subcutaneous calcification was described by Nance and Sweeney in 1970.	false
+1b096385eb1f36eb923d7aa5e2d6ab0150c25e1c	The offspring of different founders displayed a phenotype of severe chondrodysplasia characterized by @PHENOTYPICFEATURE$ and trunk, cranio-facial deformities, and @DISEASE$.	false
+7ff294df3c0aadc57ccce62f064c1d06899c549d	The other case (TD type 2) showed macrocephaly, @DISEASE$, @PHENOTYPICFEATURE$ and cloverleaf skull.	false
+72e52b3a2ea94912eb004a335f19051d5e121c6e	The most severe gross malformations induced by 6MP were @DISEASE$, micrognathia and agnathia, microglossia, @PHENOTYPICFEATURE$, and gut herniation.	false
+58ae54f551a232712d2b0537eea813b6de76a641	We describe a patient with short stature due to @PHENOTYPICFEATURE$, subcutaneous calcification, and a @DISEASE$ with features similar to those described by Nance and Sweeney.	false
+6c2a663e2155484fcffd9e693b3c047aff2cb9c8	However, higher doses caused embryo malformations such as @PHENOTYPICFEATURE$, spinal abnormalities, dermal cysts, microphtalmia and @DISEASE$.	false
+6db01c5eb98c35dfb0b3d537ce0a2b385ad84e19	The homozygotes (-/-) are characterized by @DISEASE$ and @PHENOTYPICFEATURE$, tail, and snout.	false
+b3c9fe03682b16e78879a407b49a586a94a88cfa	The fundamental ultrastructure of lipid storage in the xanthoma cells of various xanthomatous diseases, including familial hyperlipoproteinemia type IIa, III, and V, cerebrotendinous xanthomatosis, Wolman's disease, @DISEASE$, Hand-Sch?ller-Christian disease, and normolipidemic cutaneous @PHENOTYPICFEATURE$, revealed lipid vacuoles, either membrane-bound or with no single unit membrane, cholesterol crystals, multivesicular or multilocular lipid bodies, myelin-like bodies, and ceroid granules (residual bodies).	false
+96f7c72af27a1462de91d1f8046743c6e58aa57b	@PHENOTYPICFEATURE$ and Myelodysplastic Changes in @DISEASE$: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene.	false
+7bfb5e5dc610f63971a3eb200611d1c2b0738c61	We describe herein the clinical features of the first two @DISEASE$ patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, @PHENOTYPICFEATURE$, decreased subcutaneous fat, thin limbs, and stiff joints.	false
+32ee5e36b37e574b48194d39e19cc9df600109cf	A male patient was born with hypotonia, @PHENOTYPICFEATURE$ and hypoglycemia suggestive of @DISEASE$.	false
+aeaf12fe083266f0d3721d534686e8766fcf76d9	A 5-month-old girl with clinical features of Beckwith-Wiedemann syndrome (@DISEASE$), including a repaired omphalocele, an earlobe crease, enlarged adrenal glands, renal size discrepancy, and hyperinsulinemic @PHENOTYPICFEATURE$, presented with a 1.9-cm liver nodule.	false
+dd325dbaf3d6f779662aba039100908e9f801978	A 5-month-old girl with clinical features of @DISEASE$ (BWS), including a repaired omphalocele, an earlobe crease, enlarged adrenal glands, renal size discrepancy, and hyperinsulinemic @PHENOTYPICFEATURE$, presented with a 1.9-cm liver nodule.	false
+0d2ed8837d10e76ed6630166ad3163c057b7322d	Based on the clinical history of a patient, who was diagnosed with @DISEASE$ shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing @PHENOTYPICFEATURE$.	false
+25500e2460bbe13b9496989114e0465c0dd6c801	The patient's clinical symptoms, including developmental delay and @PHENOTYPICFEATURE$, were typical of @DISEASE$ with paternal 11p15 trisomy.	false
+4dcfa8211f81dae1257f369c85d29869234877b0	The clinical phenotypes of the genomic imprinting-associated paternal UPD 6 (transient neonatal diabetes mellitus), maternal UPD 7 (Silver-Russell syndrome), paternal UPD 11p (@DISEASE$), maternal UPD 14 (precocious puberty, @PHENOTYPICFEATURE$ and highly variable developmental delay), paternal UPD 14 (polyhydramnios and a bell-shaped thorax), maternal UPD 15 (Prader-Willi syndrome), paternal UPD 15 (Angelman syndrome), maternal UPD 16 and UPD 20, as well as the diagnostic options, are summarized.	false
+84439732ac9768f3cbdbdf6b8365375a80e0c4c9	@DISEASE$, pulmonary disease, @PHENOTYPICFEATURE$ and diabetes can be treated effectively.	false
+fe93723c4a3b219dc775f419cd5d48e4cf7c5ecd	The classical complications include congenital heart disease, hypothyroidism, @DISEASE$, @PHENOTYPICFEATURE$, and hypocalcemia.	false
+ecba41b0fb7172abd022be501f0d4623d2ef99f4	She had @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b43ed839329c5650a7fd05f9ba763cff8bb733db	She had no family history of @DISEASE$, no perinatal abnormality, no @PHENOTYPICFEATURE$, or no history of severe infections.	false
+d7aa259d81380d8c45bdac3142bcc5f71aa46a46	Syndrome of erythroderma, @PHENOTYPICFEATURE$, and diarrhea in infancy: a manifestation of @DISEASE$.	false
+0c78739cf1c8e6e00cac91b3b797e3b4d69a0205	In this autosomal recessive disorder the @DISEASE$, @PHENOTYPICFEATURE$, and severity of skeletal involvement show extremely variable expressivity, between and within families.	false
+8fdcd8d221931c3c2a9f76977aaf8da222b32bc8	ICF syndrome is a rare autosomal recessive disease characterized by variable @DISEASE$, centromeric instability, and @PHENOTYPICFEATURE$.	false
+01a7d0a76d28e95bb1f546b2b0a092cdd482a2b6	Hyperimmunoglobulin E syndrome (HIES) is a rare @DISEASE$ associated with elevated serum IgE levels, @PHENOTYPICFEATURE$ skin, recurrent cutaneous infections, and distinctive musculoskeletal features.	false
+ec05c2b9758e11de033b631c7298b0acf62ab8da	Hyperimmunoglobulin E syndrome (HIES) is a rare @DISEASE$ associated with elevated serum IgE levels, eczematous skin, recurrent @PHENOTYPICFEATURE$, and distinctive musculoskeletal features.	false
+6b9b8d9acb97f786fc53f0058bd1c770195c8d93	Nijmegen breakage syndrome is characterized by microcephaly, growth retardation, @PHENOTYPICFEATURE$ appearance, spontaneous chromosomal rearrangements, @DISEASE$, and a high predisposition to cancer development, predominantly lymphoma.	false
+fac4f172e401641a760c862865bbb921b723eaa4	Nijmegen breakage syndrome is characterized by @PHENOTYPICFEATURE$, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, @DISEASE$, and a high predisposition to cancer development, predominantly lymphoma.	false
+7e1d97d80d8b5a665d7501371f0149c765b0c378	The patient was healthy, except for the @PHENOTYPICFEATURE$, and displayed no other evidence of an @DISEASE$.	false
+48be9430b064f9c6645d130a96fa5ec99a2a61b3	High fever, toxaemia, constipation during first week of fever, complicated by @PHENOTYPICFEATURE$ and perforation during third week of fever are the typical manifestations of @DISEASE$.	false
+6bc1f899721cbfc77b232542eb23b49a410657b7	In patients presenting with jaundice and @PHENOTYPICFEATURE$, physical examination and simple laboratory tests can help make an early diagnosis of @DISEASE$.	false
+e1e4cdbd73b5fe4a8d7ae51eac2eed077cf16984	We report another case of non-traumatic intracranial hemorrhage in a 6-year-old boy suffering from @DISEASE$, unconsciousness, @PHENOTYPICFEATURE$ and non-coherent speech.	false
+b6d317832366246982d2df26e8a8dc2b63baa020	In patients with jaundice and @PHENOTYPICFEATURE$, a liver span of greater than 9 cm on physical examination, thrombocytopenia, elevated alkaline phosphatase level, aspartate aminotransferase level greater than alanine aminotransferase level, and only mild prolongation of the prothrombin time suggested a diagnosis of @DISEASE$.	false
+541d5c3e2ede3c47c6c900406b5dada127cb96e6	The patient's history included a primary @DISEASE$ with known disseminated metastasis, orbital @PHENOTYPICFEATURE$, metamorphopsia, and decreased vision.	false
+fd16cc70d9befadb8d78108c4387be009d62288c	Delayed diagnosis was associated with poor outcome for retinoblastoma and possibly for @PHENOTYPICFEATURE$, @DISEASE$, and rhabdomyosarcoma (data were insufficient for definitive conclusions).	false
+ef0bdbb08ee72ac3f291cd9714df3b528cc014ca	Both of them had congenital aniridia, @PHENOTYPICFEATURE$, and glaucoma; only one subsequently developed a @DISEASE$.	false
+29ebad2a5adfaeffeb0dc37a55808972a23b51bc	Significant advances were reported this year in our understanding of the association of @PHENOTYPICFEATURE$ with neurofibromatosis type 2 and the genetics of the aniridia-@DISEASE$ association.	false
+9746047487553ab308f1e857966088607104d1af	Aniridia-a developmental @PHENOTYPICFEATURE$ in which the iris is apparently absent-has been shown to be genetically associated with @DISEASE$ (an embryonic nephroblastoma) in the WAGR syndrome.	false
+24169598d34f664bd1324dbae43b62770d3ff993	Aniridia-a developmental @PHENOTYPICFEATURE$ in which the iris is apparently absent-has been shown to be genetically associated with Wilms' tumor (an embryonic @DISEASE$) in the WAGR syndrome.	false
+0f5f196e034ce2bbb67bc86fd86fa50a1584d256	We report the case of a child with @DISEASE$ who presented with generalized weakness, fatigue, @PHENOTYPICFEATURE$, hypokinesis, dysarthria, urinary retention, facial diplegia, ophthalmoplegia, and autonomic dysfunction.	false
+3c959f497c275fb541988d474ef4aa2cb25de24d	Aniridia, @PHENOTYPICFEATURE$, and @DISEASE$ in monozygous twins.	false
+871dd84746f2fbd0d3bdc90b9856503f431ec1e1	Aniridia/@PHENOTYPICFEATURE$ and @DISEASE$ in a sibship with renal tubular acidosis and sensory nerve deafness.	false
+2d88dd1153e5238b2c2fae45945e352415289ba0	Aniridia, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4079d864c2bd97ad145da7af0f4e1ee226cdaefd	Lymphoma (51.3%), @PHENOTYPICFEATURE$ (21.3%), @DISEASE$ (8.5%) and rhabdomyosarcoma (5.2%) are the most common childhood cancers.	false
+e6c1e12b9d6bbe19e6ebf39c29c6edf2debe021c	@DISEASE$ (PD) is a common and @PHENOTYPICFEATURE$ disorder.	false
+52ccfb893a8b0152ec5c4469afdafe7364b775a8	@DISEASE$ (PD) is a slowly @PHENOTYPICFEATURE$ movement disorder.	false
+e3119e300cc40b65fb68f7b5a0f831954434deb1	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder, where most cases are sporadic with a late onset.	false
+843d5fdb077812c7301c7284dca5a04730589916	@DISEASE$ (PD) is a @PHENOTYPICFEATURE$ disorder affecting motor and cognitive functions.	false
+58ef6dce025e7313c61f795e78a36276c8d2d091	@DISEASE$, a chronic @PHENOTYPICFEATURE$ disorder, has a mainly unknown multifactorial etiology.	false
+9074d660c815c1a03fa6cf128f6cbc6e6cf3c930	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder with multiple motor and non-motor features.	false
+012d6138fa3cc145b1fe442662d2bf1433a23df1	@DISEASE$ (PD) is a @PHENOTYPICFEATURE$ motor disorder.	false
+c25e714bf885ec0ceb6f77fac01f131d98c92092	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder, characterized by hallmark motor symptoms.	false
+7978c4ff113d1334a9b4f5aafae6440a303a875c	@DISEASE$ (PD) is a @PHENOTYPICFEATURE$ movement disorder.	false
+2e293c7691b48e50a4c3bbbeba87ad26c9a98af0	@DISEASE$ is a @PHENOTYPICFEATURE$ movement disorder, affecting mainly the elderly.	false
+4951efbbc61b5563a95c6748d422cdba71d55c2b	HL deficiency is an autosomal recessive inborn @DISEASE$ in man leading to episodes of @PHENOTYPICFEATURE$ and coma.	false
+6287c33a824fa9ef752a9357512069ca176c2d0f	Compared with @DISEASE$ patients without fever at disease onset, patients with @PHENOTYPICFEATURE$ had significantly more painful joints (3.5 vs. 2.8), more swollen joints (1.1 vs. 0.8), and more enthesitis (1.0 vs. 0.4) (p<0.05 for all comparisons).	false
+02ff21ff62c2ffc3b5cc9d1d41c67dcfd53d555a	Both these @DISEASE$ positive cancer cells were killed by ?3 fold higher efficiency than that of ER negative MDA-MB-231 (advanced @PHENOTYPICFEATURE$ cell) and HeLa cells that are deprived of estrogen receptors.	false
+9b872e6eea5f469d11f26a13c4743f8f9c50dc65	@DISEASE$ @PHENOTYPICFEATURE$ was associated with failures to engage sufficient autonomic reactivity.	false
+f80ecf7b024c0f219eb8982a430dee12210ef052	Early repolarization syndrome (@DISEASE$) is a rare but increasingly recognized cause of malignant @PHENOTYPICFEATURE$.	false
+374e094a02e3d7dd113f16d83603ad1b3298aa69	@DISEASE$ (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including @PHENOTYPICFEATURE$ and unerupted teeth with large dental follicles.	false
+5c3c1c58272ced24d986d9a5ebf051cef64e0496	Hyperammonemia and @PHENOTYPICFEATURE$, cardinal features of many inborn @DISEASE$ of acyl-CoA metabolism, occurred spontaneously in some HLLKO mice and were inducible by administering KIC.	false
+ae0bf8a669c32559939c9d4c6f494e89312734ba	Mevalonic aciduria is a rare, inborn @DISEASE$ of isoprene biosynthesis characterized by severe, periodic attacks of @PHENOTYPICFEATURE$ and inflammation, developmental delay, ataxia, and dysmorphic features.	false
+cb835da3c74f3b27a34ba79de050391e578aacfb	@DISEASE$ @PHENOTYPICFEATURE$ and motivational significance: Shifts in networks centering on anterior insula co-vary with error awareness and pupil dilation.	false
+927cc3daee2f8f2155b814ce6c19000d593e55d9	Clinical features were collected including discolored nasal discharge, facial pain, @PHENOTYPICFEATURE$, double sickening, symptoms persisting longer than 10 days, and elevated serum C reactive protein (CRP) and erythrocyte sedimentation rate (@DISEASE$).	false
+1e104951a6064486c2538d2349ccac1a3f8be129	Transmissible subacute spongiform encephalopathies (TSE) are a group of human and animal diseases which includes Creutzfeldt-Jakob disease, Gerstmann-Stra?ssler-Scheinker syndrome (GSS), Kuru, @DISEASE$ (FFI), scrapie in sheep and goat, mink and feline transmissible @PHENOTYPICFEATURE$, chronic wasting disease, and bovine spongiforme encephalopathy (BSE).	false
+688a5edd585fd495e232863bdb3e3d76bbe693d0	@DISEASE$: a rare cause of @PHENOTYPICFEATURE$ in a child.	false
+4494a7c81022514d00c5c59d6fc8b06ffe3797e7	Clinical presentation included episodes of dehydration, weakness, and @PHENOTYPICFEATURE$, much more suggestive of @DISEASE$ than of GS.	false
+ecf9aa0205980a034221175b8021d70690dab6c8	The clinical diagnosis of @DISEASE$ was made after the first year of life because of the typical facial dysmorphism and other characteristic clinical features, such as frontotemporal alopecia, depigmented area of the skin, @PHENOTYPICFEATURE$, and severe psychomotor retardation.	false
+73183b70bf03f8f103758751ad159810e63cde48	The proportion of sporadic cases including WAGR (Wilms @PHENOTYPICFEATURE$, Aniridia, Genitourinary abnormalities, Mental Retardation) and @DISEASE$ (aniridia, cerebellar ataxia and mental retardation) was 48%.	false
+c6ff275616e4b49080f3659765040ca267556588	Identical mitochondrial DNA deletion in a woman with ocular @PHENOTYPICFEATURE$ and in her son with @DISEASE$.	false
+90985062e2b8b4f786b6d17bc7b7d5a997b34bf9	Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, @DISEASE$, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary @PHENOTYPICFEATURE$, renal failure in infancy and alkalosis syndrome.	false
+a79eb7d2be1083eaef22856957e7bb70d60bef2d	The causes of @PHENOTYPICFEATURE$ such as craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal @DISEASE$, and trauma were also discussed.	false
+0ab0a0ae5bc2d6b807b132da8d2dd13efc286f15	Bisphosphonates are pharmacological agents which are currently used both in osteoporosis than in other pathological conditions characterised by an increased bone resorption, such as Paget's disease of bone, malign @PHENOTYPICFEATURE$ during myeloma, osteolytic bone metastasis and @DISEASE$.	false
+ac0ada1cf7d1712d6aa0833f29e00b11ad168a37	The initial impact of CT scanning in otolaryngology is largely in four areas: 1. Facial deformities either acquired or congenital as @PHENOTYPICFEATURE$, @DISEASE$, ossifying fibroma and Crouzon's disease.	false
+85731e721d0c87b5335adb9a923658acc3a2022e	@PHENOTYPICFEATURE$ was mostly attributable to craniofacial cleft, craniosynostosis, frontoethmoidal meningoencephalocele, frontonasal @DISEASE$, and trauma.	false
+ca5473876b5156d81928f8c5068fa62cc31f185a	Disrupted bone remodeling leads to cochlear @PHENOTYPICFEATURE$ and hearing loss in a mouse model of @DISEASE$.	false
+3c740107d8dddce980f1079a0ad398114df6e6ce	Indications included radiation-induced hypoplasia (n = 1), postsurgical resection of @DISEASE$ (n = 1), hemifacial microsomia (n = 3), Robin sequence with severe @PHENOTYPICFEATURE$ (n = 1), and osteomyelitis (n = 1).	false
+adce5d277179f5e6a8a43111ddfefe544765566e	Among the developmental abnormalities in this kindred were @DISEASE$, @PHENOTYPICFEATURE$, pectus excavatum, high arched palate, and primary lymphedema.	false
+bd7fb763a7e48098ae5708f9a855c70aa4969d53	Difficult cases in heart failure: Bilateral renal artery @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ed2d9dd2c2c4f57f6a216f94ed61521898337ffc	The LactoSorb plating system was used to stabilize the osteotomized calvarial bones in 33 patients who were diagnosed with: 1) craniosynostosis, 2) @PHENOTYPICFEATURE$, 3) @DISEASE$, or 4) cranial deformation.	false
+89027a6352a93a808ef5a72b7354cda558cb5cc4	We report on 8 Brazilian patients with the oculo-auriculo-vertebral (OAV) complex with associated uncommon anomalies of @PHENOTYPICFEATURE$, porencephalic cyst, hand abnormalities, terminal/paraxial hemimelia, Klippel-Feil anomaly, Rokitansky sequence, @DISEASE$, and dextrocardia.	false
+2c4c9ba2365cf7bb6f526b716792e03402c0595e	@DISEASE$ (LDS) is a connective tissue disorder characterized by vascular and @PHENOTYPICFEATURE$ resembling Marfan syndrome, including a predisposition for pathologic fracture.	false
+4846aa84202ceeea91bfa8ad131e164919b68b40	Due to its low prevalence and because there is lack of awareness about it, @DISEASE$ is often mis-diagnosed as Marfan syndrome, which has similar @PHENOTYPICFEATURE$ and aortic pathology.	false
+dc320cd4aa904e19c0a3976380b05c20cf1574e3	@DISEASE$ (LDS) is a connective tissue disorder that is characterized by @PHENOTYPICFEATURE$, craniofacial malformations, and a high predisposition for aortic aneurysm.	false
+bb7741003946081e0c538969873c057949f5c3c7	@DISEASE$ (LDS) is a rare multisystemic disorder characterized by vascular and @PHENOTYPICFEATURE$, with considerable intra- and interfamilial variability.	false
+c695c781df6dc8fd35e2061e67ca92bfc80a9be4	@DISEASE$ is a recently recognized connective tissue disorder characterized by severe craniofacial and @PHENOTYPICFEATURE$ as well as arterial tortuosity with aggressive aneurysm formation.	false
+25d962360e95d6f52718c2cb417abdcfd11c3c9c	@DISEASE$ (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and @PHENOTYPICFEATURE$.	false
+6133a3305426d6fb1539ff687a0726af46b9e3fd	Circulating @PHENOTYPICFEATURE$ cell is a common property of @DISEASE$ and promotes the monitoring system.	false
+621d951a95c9ee44952d38dd34e03994928645d7	[Chemoresistance of CD133(+) @PHENOTYPICFEATURE$ stem cells from human @DISEASE$].	false
+68ed0e19d5c05bb0d017058ffb5ac82a3fe7f1cf	[Isolation and culture of @PHENOTYPICFEATURE$ stem cells from human @DISEASE$ tissues].	false
+9e3d63d43acf194524fff3fe7967c803390b3a79	Malignant @DISEASE$ is the most common and aggressive type of primary intracranial @PHENOTYPICFEATURE$.	false
+28e07fd4bdca49beca4ad967c5a592cb401bc397	3D multimodal MRI @DISEASE$ @PHENOTYPICFEATURE$ and edema segmentation: a graph cut distribution matching approach.	false
+ffc47c2304bdf7e467b9774350390f73f8f19e54	The goal of surgery for @DISEASE$ is to maximize the extent of @PHENOTYPICFEATURE$ resection, avoiding postoperative functional impairment.	false
+b8096ba2edd6888a62ae6f8788410cd66d80e30a	Focus on the inconsistency of the shape, location and size of @DISEASE$, a dual-channel 3-dimensional (3D) densely connected network is proposed to automatically segment brain glioma @PHENOTYPICFEATURE$ on magnetic resonance images.	false
+712478e05ab3f58795d65b281a356f2835fe457b	Focus on the inconsistency of the shape, location and size of brain glioma, a dual-channel 3-dimensional (3D) densely connected network is proposed to automatically segment @DISEASE$ @PHENOTYPICFEATURE$ on magnetic resonance images.	false
+92f1e75ae469d92275a4c9cd8da81640f02a3853	BACKGROUND Human @DISEASE$ is the most common endocranial @PHENOTYPICFEATURE$; its mortality and morbidity are very high.	false
+c103794283a34ba5f47735923c8aabecce31c3e5	Sixty-five patients with @DISEASE$ were divided into @PHENOTYPICFEATURE$ and peritumor groups.	false
+782277bb8c2c04ce14abfc71eca73f8501806d26	Expression of metastasis-associated protein 3 in human @DISEASE$ related to @PHENOTYPICFEATURE$ prognosis.	false
+eb7fb2c2749d7997d08ecf41d5d6355366c6bcbe	Here we describe five families affected by an adult-onset @DISEASE$ and associated central @PHENOTYPICFEATURE$ in the third or fourth decade of life.	false
+b7c91b6e36d7de4f1497a9c9f25bb330a0d1ba10	@PHENOTYPICFEATURE$ were the clinical issue leading to medical attention in patients with Noonan syndrome and @DISEASE$.	false
+9c4f9f0454a6de227ff154a09befc4214f7467f9	@DISEASE$ (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and @PHENOTYPICFEATURE$.	false
+f0c1a13ed7ae58d0ae32c763ba0b721680d470f0	Noonan syndrome with multiple lentigines (NSML), formerly known as @DISEASE$, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+633578cf97e2aee24e1812a496b24c6555f6516e	@DISEASE$ (NSML), formerly known as LEOPARD syndrome, is an autosomal-dominant disorder characterised by lentigines, EKG abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, growth retardation and @PHENOTYPICFEATURE$.	false
+d0a53d8fb37dc93caa9d26fe473aebc2efaff928	@DISEASE$ (LS) is a rare hereditary disorder, characterised mainly by skin, facial and @PHENOTYPICFEATURE$.	false
+9e9cf4e221d7fde37a7b13f577998c3f6675a7a8	Correlation between PTPN11 gene mutations and @PHENOTYPICFEATURE$ in Noonan and @DISEASE$.	false
+35d2be0f345c877101a9ff5bf1cc5aaf099470db	@DISEASE$ is a rare congenital disease that can manifest with @PHENOTYPICFEATURE$, multiple lentigines, ocular hypertelorism, growth retardation, and deafness.	false
+3b1e7151f879c6a33907cac3763c03a45c6ae83d	@DISEASE$ is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, growth retardation, and @PHENOTYPICFEATURE$.	false
+1e90f33d7e5b335a7aaaecbc792de947576f9434	[Case report and diagnosis of @DISEASE$ with @PHENOTYPICFEATURE$ as its main clinical feature].	false
+59baf3cf784b6c30ab012b6679bfc3b30245772d	Noonan syndrome (NS) and @DISEASE$ (LS) cause congenital afflictions such as short stature, hypertelorism and @PHENOTYPICFEATURE$.	false
+959780e7e2b8333eea797843c3b6c47ce8f7ce41	'@DISEASE$ is a rare inherited disorder associated with a high prevalence of @PHENOTYPICFEATURE$.	false
+a0ce5131829d7e0e9407ed4cd39a980c81c72103	@DISEASE$ is an autosomal dominant disorder with multiple lentigines, congenital @PHENOTYPICFEATURE$, ocular hypertelorism, and retardation of growth.	false
+73ecfd05cd56e96e0efa4b9d3f056de3b8e23b72	Correlation between @PHENOTYPICFEATURE$ and maternal @DISEASE$ and zinc concentrations.	false
+b6e294557ae68f94ab8ed43e4ae2deaa243b8892	To customize and test an MS-MLPA assay capable of detecting and distinguishing the full spectrum of known 11p15 epigenetic and @DISEASE$ number abnormalities associated with overgrowth and @PHENOTYPICFEATURE$ and to assess its effectiveness as a first line investigation of these abnormalities.	false
+cf1b55eb9ac5b91d4ebe7e2900f9276999f1aa01	To customize and test an MS-MLPA assay capable of detecting and distinguishing the full spectrum of known 11p15 epigenetic and @DISEASE$ number abnormalities associated with @PHENOTYPICFEATURE$ and growth retardation and to assess its effectiveness as a first line investigation of these abnormalities.	false
+8aeb90f7c4709086db59900d6734dcf8d83ee16f	Up to 16.6% of individuals with @PHENOTYPICFEATURE$ had a molecular diagnosis attributable to a @DISEASE$-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.	false
+d80c8f9e7a110b44689bf59c1699c9ea2cb1f4a6	@DISEASE$ deficiency resulted in @PHENOTYPICFEATURE$, anemia, heart hypertrophy but pancreatic atrophy.	false
+04e80fd51df0843de7e6cde13ccedf597174cad9	Cholesterolemia and @PHENOTYPICFEATURE$ in rats caused by @DISEASE$ deficiency.	false
+9c7db1bce91fc29b9512e8aed9f943068cdbbe26	Anemia and @PHENOTYPICFEATURE$ were more pronounced in @DISEASE$-deficient males than in females, despite similarly low levels of ferroxidase I and II.	false
+8273fd0260077c69eb9998abbd3ac9ea7ea5d32c	@PHENOTYPICFEATURE$, decreased hematocrit, lethargy, dyspnea, achromotrichia, and high mortality (in ICR mice) were apparent in @DISEASE$-deficient mice.	false
+5c46f2b1c15c9cfd7c3b81c80caa83f468174f28	Dietary fructose exacerbates the @PHENOTYPICFEATURE$ of @DISEASE$ deficiency in rats.	false
+6a84552bfd1aeea7650c82368e772758c943b3ea	@PHENOTYPICFEATURE$ in @DISEASE$-deficient mice.	false
+729b3685c49ba1746ffc7deb41f860a0508e95fa	The economic importance of @DISEASE$ deficiency has been emphasised by the discovery of unsuspected causes of loss: increased susceptibility to infection and @PHENOTYPICFEATURE$ in lambs and infertility in cattle.	false
+57a2efab965707e5bdbb8082061bb2a342b3b86e	Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular @PHENOTYPICFEATURE$ versus @DISEASE$ atrophic neurodegeneration.	false
+9693ab22556dcca10665a1ed15acadd892e5453f	Four of the 18 mutations (approximately 20%) were de novo @PHENOTYPICFEATURE$, and all of these were found in isolate cases of @DISEASE$.	false
+fe1463a9dc17b0fde69d66d39dd4a78432c28af0	To report a novel de novo @PHENOTYPICFEATURE$ in the cone-rod homeobox (CRX) gene in a Japanese patient with @DISEASE$ (LCA).	false
+107d05c88aa0e106bf1e9a7f16381aedec2cb644	The reasons for performing the genetic diagnosis were mostly the need for a definite diagnosis of @DISEASE$ and research on the genesis of @PHENOTYPICFEATURE$ of unknown origin.	false
+155e4a18b620411c83cec0b28795d34087bac9b1	New autosomal-recessive syndrome of @DISEASE$, @PHENOTYPICFEATURE$, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.	false
+d80628e9ee4a32be5115fd8e5977b703248651eb	Mutations in NMNAT1 cause @DISEASE$ with early-onset severe macular and @PHENOTYPICFEATURE$.	false
+9e4fa23e326d70b7eba1bd672c2087f1e395a75e	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (@DISEASE$.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with @PHENOTYPICFEATURE$, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+c1e51b6996e5de5720209cf4c86c478da6926c9c	We found a @DISEASE$ and high levels of plasma interleukin (IL) 2 and IL 6. Regression of @PHENOTYPICFEATURE$ and remission of hematology disease have been obtained with corticoids and chloraminophene.	false
+6c712c34529e43a62bfa940f77760c4b2db05a1c	Fine needle aspiration cytology of histiocytic @PHENOTYPICFEATURE$ with dendritic cell differentiation: a case of transdifferentiation from low-grade @DISEASE$.	false
+c8355fcce8ab9d0edfad770873ca006f11e6df92	We therefore assume that there are large numbers of patients with obesity and obesity-associated dependency syndrome who drive the cost of @DISEASE$ and did a retrospective analysis of the correlation between hospitalization rates for lymph edema and @PHENOTYPICFEATURE$ and MLD prescription rates in outpatients.	false
+caee9971fc94662a0bc98c4928cff7245e25d22d	We therefore assume that there are large numbers of patients with obesity and obesity-associated dependency syndrome who drive the cost of MLD and did a retrospective analysis of the correlation between hospitalization rates for lymph edema and @PHENOTYPICFEATURE$ and @DISEASE$ prescription rates in outpatients.	false
+abcc9af7986dd10b53062fc5aa458f54b0de3bd7	We therefore assume that there are large numbers of patients with obesity and @PHENOTYPICFEATURE$-associated dependency syndrome who drive the cost of MLD and did a retrospective analysis of the correlation between hospitalization rates for lymph edema and obesity and @DISEASE$ prescription rates in outpatients.	false
+ec7737e5d55bfeba400b54530e289f82332d3797	We therefore assume that there are large numbers of patients with obesity and @PHENOTYPICFEATURE$-associated dependency syndrome who drive the cost of @DISEASE$ and did a retrospective analysis of the correlation between hospitalization rates for lymph edema and obesity and MLD prescription rates in outpatients.	false
+dcc03504a8aaf063033e3409a7fd6c28def25b1e	We therefore assume that there are large numbers of patients with @PHENOTYPICFEATURE$ and obesity-associated dependency syndrome who drive the cost of MLD and did a retrospective analysis of the correlation between hospitalization rates for lymph edema and obesity and @DISEASE$ prescription rates in outpatients.	false
+ee902b0fc31d59bcd3cf01b6bef085e99124813d	We therefore assume that there are large numbers of patients with @PHENOTYPICFEATURE$ and obesity-associated dependency syndrome who drive the cost of @DISEASE$ and did a retrospective analysis of the correlation between hospitalization rates for lymph edema and obesity and MLD prescription rates in outpatients.	false
+35fb0deb411079a949ad6951cabbf146d8c80f4f	Our analysis is in line with the hypothesis that there is a correlation between the increasing prescription rate of @DISEASE$ and the increasing burden of @PHENOTYPICFEATURE$ in Germany.	false
+e519c30950dcfec80e17fc27fc297272518f0798	@DISEASE$ incorporated with dietary restriction and exercise treatment exhibit effects in alleviating high-fat diet-induced @PHENOTYPICFEATURE$, hyperglycemia, hyperlipidemia, hypertension, hepatic injury and insulin resistance, which are possibly due to the down-regulation of TNF-?, leptin and PKB.	false
+6d9bc204cce53ccf91f07d4ce0a7c0553cec16b5	Between-group variance (BGV) was used to measure absolute racial/ethnic disparity in @PHENOTYPICFEATURE$, and the mean log deviation (@DISEASE$) and the Theil Index (T) were used to measure relative racial/ethnic disparity in obesity, weighted by corresponding racial/ethnic population size.	false
+4b97b9aac104dd56b3720d8a23a2cf6a06e55970	Between-group variance (BGV) was used to measure absolute racial/ethnic disparity in obesity, and the mean log deviation (@DISEASE$) and the Theil Index (T) were used to measure relative racial/ethnic disparity in @PHENOTYPICFEATURE$, weighted by corresponding racial/ethnic population size.	false
+a309c275493abc3c60a7780579d88c75bb86c632	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, @DISEASE$ (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	false
+52df5988cd0d3aef9555958e21f7d26bdef2ce3e	The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (@DISEASE$), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], @PHENOTYPICFEATURE$ and tuberous sclerosis.	false
+4f6ebbf2eea8dd7750ff7770e8059bb6eba252da	They had major neurological diseases: severe neonatal asphyxia, holoprocencephaly, microcephaly, degenerative diseases of the central nervous system of unknown origin, @DISEASE$, trisomy of chromosome 18, anoxic encephalopathy, small for gestational age newborn with intracranial bleeding and posthemorrhagic @PHENOTYPICFEATURE$.	false
+15d099abc6f709a72c5c43ca03dea73a9ed54012	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form MLD. @PHENOTYPICFEATURE$, delayed motor development, gait disturbances, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of @DISEASE$.	false
+e9be84ccad562aa33700d14a37442c8c94b09793	In summary, the novel MLD-causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form @DISEASE$. @PHENOTYPICFEATURE$, delayed motor development, gait disturbances, tonic-clonic seizures and non-epileptic muscle spasms were the first onset symptoms in patients with late infantile form of MLD.	false
+d2461690175a17b243d4363ba7699a0480ac0bff	The aim of this study was to determine if we may continue the treatment of lower limb lymphedema using @DISEASE$ in patients with @PHENOTYPICFEATURE$.	false
+e587ad0ecd374e388b29a5f7e177bd6c8cf1c051	The findings suggest that there is no contraindication to use @DISEASE$ in patients with @PHENOTYPICFEATURE$ and lower limb edema.	false
+763320532f181ed3a147d2c0e733ca4c020b4ebf	We report the development and spontaneous resolution of annular @PHENOTYPICFEATURE$ skin lesions consistent with sarcoid dermatitis in a child with @DISEASE$ (DGS) carrying the 22q11.2	false
+0acc14aa281457566702023fd8f16f9da91b2e40	We report the development and spontaneous resolution of annular @PHENOTYPICFEATURE$ skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (@DISEASE$) carrying the 22q11.2	false
+0d6c6290ab8301241b82ebd9b0b2c9e1fa4c58f9	@DISEASE$ masquerading as @PHENOTYPICFEATURE$.	false
+ba3423278c8655d11705f983fa28cceed48b8940	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, @DISEASE$, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+3dba0e89ca046b8bb4a1ca2e2a440842f3ece51c	Laparoscopic splenectomy was carried out for the treatment of patients with splenic disorders; 20 @DISEASE$, 1 @PHENOTYPICFEATURE$ and 3 hereditary spherocytosis.	false
+14df33ff00985e351cff4dbebfba6e53cd5a712e	The association of @PHENOTYPICFEATURE$ (BA) and @DISEASE$ (ITP) is extremely rare, with only 2 cases being reported in the literature.	false
+22becaef02bfc6d133979e5faa277016cf69b672	Idiopathic autoimmune hemolytic anemia and @DISEASE$ associated with diffuse @PHENOTYPICFEATURE$, amyloidosis, hypoalbuminemia and plasmacytosis.	false
+a844a43b202b6d4ec32922708f1d21acea8fd38e	Sequencing of small RNA library and RNA library was performed in @DISEASE$ treated @PHENOTYPICFEATURE$ cell group and control group to investigate the anti-cancer mechanism of HS-4 at level of functional genomics, using high-throughput sequencing technology.	false
+670b2d13a056e238526b237b37994b30ef5a2368	The current list of pathogenetic factors of the condition is clearly extended with genetically conditioned diseases (cystic fibrosis, @DISEASE$ and Johanson-Blizzard syndrome), pancreatitis, especially hereditary and obstructive, metabolic and hormonal disorders (@PHENOTYPICFEATURE$, hypercholesterolemia, hyperinsulinemia and hypercortisolemia), alcohol overuse, taking some medicines (especially adrenal cortex hormones), disease of the liver and visceral adiposis.	false
+9ecbe3d867c156f4df68d0160d775a333c4413fc	Growth failure, @PHENOTYPICFEATURE$, and endocrine dysfunctions in two siblings, one with @DISEASE$.	false
+0929c8c5cdf70a4cdcdaed043c09221ed0051be8	@DISEASE$ is a @PHENOTYPICFEATURE$ that is characterized by short stature, short hands and feet, typical facial dysmorphism, normal mental development, and characteristic hand radiology.	false
+cf1dbba41c0f536b1ce330b8c1227f5d357a6460	@DISEASE$ (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, @PHENOTYPICFEATURE$, hepatomegaly, hoarseness and respiratory distress.	false
+115344437856a3feb8f4f8b61552bd1737dc350e	Familial @DISEASE$ associated with @PHENOTYPICFEATURE$ and tetralogy of Fallot.	false
+495f76dfd5d54c93ab4294f512eaca215cf65764	Here, we present a 10-year-old boy with extensive @DISEASE$ and @PHENOTYPICFEATURE$ as well as mild pachygyria and focal acrania in neuroimaging.	false
+ee41c1df90ec586e0d581caa90aedd6cbcfb8886	It may be presented by isolated @DISEASE$ and @PHENOTYPICFEATURE$.	false
+74c11e954f76f15579ae77a5b4a9270aacdeb3c4	Adams-Oliver Syndrome is characterized by the combination of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ae06aa712c61ff05a5882bbb2a46fec0938c8278	Results for the sleep disorders that have been studied (@DISEASE$ idiopathic hypersomnia, @PHENOTYPICFEATURE$/hypopnea syndrome, restless legs syndrome, periodic limb movement disorder, and circadian sleep disorders) show strong evidence for an association with mood disorders.	false
+99e22e67693cd4dd156a3e25e827ac570c602dd6	Both the @DISEASE$-hypersomnia and the sleep apnea-@PHENOTYPICFEATURE$ syndromes are reviewed in detail.	false
+a5a2ad88222ecbd4165c64db39277cafa5b99a3b	Both the @DISEASE$-hypersomnia and the @PHENOTYPICFEATURE$-hypersomnia syndromes are reviewed in detail.	false
+e30b75345327abf5951af845a418078f52ca641f	@DISEASE$ associated with @PHENOTYPICFEATURE$ and short stature.	false
+162c76e8e3d3baeda362d6c882584cabe9aa4a6b	Postoperative cerebellar @PHENOTYPICFEATURE$ in adult patients with @DISEASE$.	false
+74065f9e164a7f5e3354c30f87b82d4401986a60	C. L. S. have been observed in isolated patients with bony skeletal and @PHENOTYPICFEATURE$, in Westerhof's syndrome, Leschke's syndrome, @DISEASE$, nevoid basal cell carcinoma syndrome, epidermal nevus syndrome, Gaucher's disease, Hunter's disease, Turner syndrome.	false
+cd0538e6df0322f0512a27b37eca3717385bffae	A 50-year-old patient with @DISEASE$ had initially presented with @PHENOTYPICFEATURE$ and imbalance.	false
+f9632a800523d90e281365d527ef41bba97f6f51	@DISEASE$ (RCDP) is clinically characterized by symmetrical shortening of the proximal @PHENOTYPICFEATURE$ of joints, a characteristic dysmorphic face, and cataracts.	false
+5cb7a54a4d82c82eee5cb9f604b483572d9edadf	A newborn male with the characteristic phenotype of classic @DISEASE$ (RCDP) and with the usual and severe radiographic @PHENOTYPICFEATURE$ is described.	false
+2d90ee7f4f341dbbd0609a19e660c9c921ab9cc7	To describe the neurologic profiles of @DISEASE$ (RCDP); a peroxisomal disorder clinically characterized by @PHENOTYPICFEATURE$, congenital cataracts, severe growth and developmental impairments and immobility of joints.	false
+3707b09ad9ef5018221ca55ea3ff4c3c5090ead0	@DISEASE$, a peroxisomal disorder which results from at least two peroxisomal enzyme deficiencies, presents at birth with @PHENOTYPICFEATURE$ and patients rarely survive past one year of age.	false
+e3401a8cd1ceede04da71f86672a00d3c0eb7454	A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, @DISEASE$ (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and @PHENOTYPICFEATURE$.	false
+7ce4988c992aa2d41e845fc5ad5565632a5698ca	Taken together, our data suggest that ILDR1 is important for the survival of OHCs and provide novel insights into the pathogenesis of human @PHENOTYPICFEATURE$ @DISEASE$ deafness.	false
+778f6a717dfea47d78716423bc3c3a5e2f3300ec	Taken together, our data suggest that ILDR1 is important for the survival of OHCs and provide novel insights into the pathogenesis of human deafness @DISEASE$ @PHENOTYPICFEATURE$.	false
+c472b9ac803e4702025cb42cd318331ded3466ce	However, the pathophysiology of @DISEASE$ @PHENOTYPICFEATURE$ remains unknown.	false
+1ebca3e7aa23e25d8dee4e814bc5c183d8625f17	Mutations in the genes encoding angulin-2/ILDR1 and tricellulin have been reported to cause human hereditary @PHENOTYPICFEATURE$ @DISEASE$ and DFNB49, respectively.	false
+16b243e5a8e60fef695371bc827a07879917b7d0	In order to uncover the pathology of @DISEASE$ @PHENOTYPICFEATURE$, we used the morpholino injection technique to establish an ildr1b-morphant zebrafish model.	false
+928d2ac1982eebf77f67dcf6f6445ce86db17e51	Loss-of-function mutations of ILDR1 cause autosomal-recessive @PHENOTYPICFEATURE$ @DISEASE$.	false
+c54ccae82cbd09ca1903a8dd167d9ccfdb5a2f96	Recently, ILDR1 has been found to be responsible for autosomal recessive @PHENOTYPICFEATURE$ @DISEASE$.	false
+461526b6e9cbba2924066c59fa236c4793dd30e7	Taken together, our data provide insight into the pathophysiology of human @DISEASE$ @PHENOTYPICFEATURE$ and demonstrate that ILDR1 is crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs.	false
+5e12d5c65e0d0f4a2d8ec0a3e7cb02a98c7472e6	The hemolytic-uremic syndrome (@DISEASE$) was not occurred, but systemic edema, ascites, pleural effusion and @PHENOTYPICFEATURE$ with hypoxyemia gradually appeared.	false
+843ad29e24c1d3df92b26e8d9c5f59f66497c8a2	The @DISEASE$ (HUS) was not occurred, but systemic edema, ascites, pleural effusion and @PHENOTYPICFEATURE$ with hypoxyemia gradually appeared.	false
+2bd8a0113d96e53d5fb3c8721b90dd6286f5afc2	Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial @DISEASE$ with factor H deficiency. Retrospective analysis of the authors' data reveals that GKDs are over-represented among the pediatric population in southern Israel.	false
+f02629b47fbacab431ed382d58df0e6b5668f16e	CASE REPORT 2: A 2.5-year-old boy presented with @PHENOTYPICFEATURE$ during gastroenteritis for 3 days, leading to a diagnosis of @DISEASE$.	false
+96809181ad8db03c98620a6a6acf2c5ad8bc5fb3	Eighty-two percent of the patients with thrombotic thrombocytopenic purpura had associated neurological disorders and 78% of drug-induced @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+e4dfa121ec9f3d8d46ce1ecd1112dd575c4ad781	Noncardiogenic @PHENOTYPICFEATURE$ frequently ( > 50%) develops, especially after blood transfusion, among MMC induced @DISEASE$.	false
+b567dc682370b865fab576fa314dcbf95c2583bb	With the suspicion of @DISEASE$ she was started on plasmapheresis initially stopped due to an anaphylactic reaction to plasma and finally due to hyperhidratation with acute @PHENOTYPICFEATURE$ needing mechanical ventilation.	false
+397fe1d8e2221e5605306179f123def9ed4bb641	Noncardiogenic @PHENOTYPICFEATURE$ triggered by intravenous immunoglobulin in cancer-associated thrombotic thrombocytopenic purpura-@DISEASE$.	false
+2906e3bbe96d0994380d23c460484c2f31d9f6ed	Post transfusion non-cardiogenic @PHENOTYPICFEATURE$ in a patient with chemotherapy-related @DISEASE$.	false
+f635df82261c4b826441791f6edc06bc744a49a1	Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal @PHENOTYPICFEATURE$, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis, familial @DISEASE$ with factor H deficiency, and non-cystic autosomal dominant nephropathy.	false
+0d86bf588346a98e30cbe358b2fb948f72aa97dd	Glomerulonephritis / vasculitis accounted for 17.7%, acute interstitial nephritis 4.4%, haemotytic uraemic syndrome (@DISEASE$) 6.6%, and post renal @PHENOTYPICFEATURE$ in 6.6% of all cases.	false
+1aa7e3c2a20823b7c98ba4544b2611f35dec43df	A child with skin mastocytosis (@DISEASE$), and regressive @PHENOTYPICFEATURE$ is presented to illustrate the point.	false
+ff0cc43839eeb7c4596f25347ffbbeb7d52b2e63	@DISEASE$ is an autosomal dominant inherited condition characterized by fusion of the carpal and tarsal bones and @PHENOTYPICFEATURE$.	false
+5a5b5745b63165706cf2ef8cdea3e438a25f8580	as the sole anomaly in a nasal chondromesenchymal @PHENOTYPICFEATURE$ arising in a patient with @DISEASE$.	false
+32affccbda2368c86db06878b48deb05ba939daf	Using Sanger sequencing, we screened all DICER1 exons and intron boundaries in 20 suspected mutation carriers: nine with ovarian sex cord-stromal tumors (including Sertoli-Leydig cell tumors (SLCTs)), five with @DISEASE$, one with cystic nephroma, one with nasal chondromesenchymal @PHENOTYPICFEATURE$ and four with more than one manifestation suggestive of a germ-line DICER1 mutation.	false
+d1323cb6ecbc73441a385b1218334bbb275f2129	Mesenchymal cystic @PHENOTYPICFEATURE$ (MHC) of the lung is a very rare disease with an indolent clinical course and might be easily misdiagnosed as @DISEASE$ and other uncommon cystic lung lesions.	false
+d009afb15550ccd128539011c99aa743d0afd021	Nasal chondromesenchymal @PHENOTYPICFEATURE$ in an adolescent with @DISEASE$.	false
+19411d38a80aa1c3386f61a00387ad94a356050e	We report a rare case of 9-month-old girl who presented with a choking episode and was found to have an incidental finding of a lung cyst and iron deficiency anemia leading to the diagnosis of @DISEASE$ (PPB) and a jejunal @PHENOTYPICFEATURE$.	false
+c67ab8c08e54cbf6d2cb364ee57f674cede571e6	The hallmarks of DICER1 syndrome are certain rare tumors including @DISEASE$; cystic nephroma; ovarian Sertoli-Leydig cell tumor; sarcomas of the cervix, kidneys and cerebrum; pituitary blastoma; ciliary body medulloepithelioma; and nasal chondromesenchymal @PHENOTYPICFEATURE$.	false
+94cd481af9e94acd1da26c194f331f259a0693e5	Nasal chondromesenchymal @PHENOTYPICFEATURE$ in children with pleuropulmonary blastoma--A report from the International @DISEASE$ Registry registry.	false
+6a0acf81ddab02524f4af28cf158fe1f49cffcc4	We calculated the age at first neoplasm diagnosis (systematically ascertained cancers plus DICER1-associated neoplasms @DISEASE$, cystic nephroma, and nasal chondromesenchymal @PHENOTYPICFEATURE$) in 102 female and male nonproband DICER1 carriers.	false
+ee2bd4d062f3a06193f034cec3ce8b069b8faceb	Scalp @PHENOTYPICFEATURE$ and/@DISEASE$ beyond the sixth postoperative month were observed in 3.62% of the cases.	false
+f0aebaeb79ea477761e5fca71c7ef98714faf516	However, @PHENOTYPICFEATURE$ @DISEASE$, Frey's syndrome, and cosmetic discontent are quite common and may affect symptom-specific and general QOL.	false
+72ea7a58927815a2a7fdcb8290696417327153d1	Burning mouth syndrome (@DISEASE$) is characterized by the presence of burning, @PHENOTYPICFEATURE$ or pain of the oral mucosa in the absence of pathologic lesions revealed during the clinical examination.	false
+18b8fff63dac3f90589c1634172c1c971f262a8b	As with many other interventions for @PHENOTYPICFEATURE$, identifying the specific functional impairments caused by @DISEASE$ may provide the best guidance towards individualized supportive care.	false
+f32820f8dcc50d2f1060b332190a5765e35453cf	This article reviews the role of complement system in the development of @DISEASE$ and @PHENOTYPICFEATURE$ renal crisis, and calls for heightened awareness to the development of thrombotic angiopathy in patients with scleroderma.	false
+46463e8a9c8a78b34d51938ff3e68e641bee27a9	While pathophysiologic mechanisms governing the development of scleroderma are relatively poorly understood, advances in our understanding of the complement system are clarifying the role of complement pathways in the development of @DISEASE$ and @PHENOTYPICFEATURE$ renal crisis.	false
+1b1f041a97125b820e20ef6e9d99495add7c313c	Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, @DISEASE$, and @PHENOTYPICFEATURE$ in which hydroxocobalamin and folate therapy provided partial immune reconstitution.	false
+83bc88113fa6530bb68a29e95be28e1ab5784590	The alien hand syndrome (@DISEASE$) is a fascinating @PHENOTYPICFEATURE$.	false
+e9c797f9eb4163d8eae692537e961f28aca4efdb	To discriminate @DISEASE$ from conditions such as extrapyramidal @PHENOTYPICFEATURE$ and epileptic seizures that take part in differential diagnosis should be kept in mind by the clinicians.	false
+3c0b762ac689d1615a8c51048f412b105f7da1ea	Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called @DISEASE$. In this paper we describe an 18-year-old girl with borderline @PHENOTYPICFEATURE$, seizures, retinal degeneration, short stature, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder.	false
+267a8b626885bd3c430714469682fa4bb415d823	Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as @DISEASE$ syndrome (Short Stature, Brachydactyly, Intellectual Developmental @PHENOTYPICFEATURE$, and Seizures).	false
+83787699cdb6ac445f58434ce799cf54bde283cd	Several systemic disorders may present with encephalitis as part of the clinical presentation, for example, @DISEASE$, @PHENOTYPICFEATURE$ with metastases to the central nervous system, Mycoplasma meningoencephalitis, brucellosis, Listeria, Rocky Mountain spotted fever, ehrlichiosis, and malaria.	false
+f58ce8d14572ed57fd4b4e9bea047250aed6bce0	In the traditional view, @PHENOTYPICFEATURE$ and interstitial fibrosis were regarded as the basic pathological features of congenital muscular @DISEASE$ (CMT).	false
+c415a799b5ba6071d01028f281f90ca53de8edd5	Three patients died as a consequence of pre-existing @PHENOTYPICFEATURE$, upper gastrointestinal haemorrhage and @DISEASE$.	false
+b43f115df929ee7c0ce687d485c57f7ede560da0	Two of these patients died of @DISEASE$ (ARDS) and @PHENOTYPICFEATURE$.	false
+3624bdbda30f6045cb464fa8fe50d7ec9aca8591	In some cases TSS is associated with multisystem failure including shock, @PHENOTYPICFEATURE$, myocardial failure and @DISEASE$.	false
+04a017ead05fc9f0753442c29bae7e8d5758e542	@DISEASE$ and @PHENOTYPICFEATURE$ associated with citalopram overdose.	false
+c252e83406e1eade6ca96cbe8c4be0257e11c871	@PHENOTYPICFEATURE$ was most commonly due to multisystem organ failure or associated with @DISEASE$.	false
+ce4564a0a9b1133d2e1660496d55d7e35412d9a7	He developed anuric @PHENOTYPICFEATURE$ and @DISEASE$ and died despite maximum intensive care.	false
+eab6dd6a05dea30080fa9c0100c75934ad8348c4	Ibuprofen overdose complicated by @PHENOTYPICFEATURE$, @DISEASE$, and metabolic acidosis.	false
+126702553500fd59a7b7ef4263408eeb9fac57c1	A greater incidence of @DISEASE$, @PHENOTYPICFEATURE$, and coagulopathy occurred in the standard treatment group.	false
+abaff647c1bc09271e05fd891d5cdcc10735d22a	The late deaths (beyond 24?h) had been commonly due to @DISEASE$, liver and @PHENOTYPICFEATURE$.	false
+fc7a8a52bf516d0ad4bba95b42355cbda4a315db	Her admission was complicated by septic shock, @PHENOTYPICFEATURE$, disseminated intravascular coagulation, the @DISEASE$ and spontaneous splenic rupture.	false
+071e21f72ff7fa1a5b8ae6f59cdcefa83ef058f0	Medical genetics and psychiatric evaluations in a 14-year-old female patient with a history of global developmental delay, intellectual disability, @PHENOTYPICFEATURE$ with macrocephaly, metrorrhagia, seizures, basal ganglia hyperintensities, nystagmus, strabismus with amblyopia, ASD, anxiety, attention deficit hyperactivity disorder (ADHD), aggressive outbursts, and hyperphagia included a karyotype, methylation polymerase chain reaction for Prader-Willi/@DISEASE$, chromosome microarray, and whole exome sequencing (WES), ADOS2, and ADI-R.	false
+9ffc40320bcc960f10b48beac587c6c83dff5f94	Gilles de la @DISEASE$ in a child with @PHENOTYPICFEATURE$.	false
+0c0f9f5de5490169f74c820561e1471186a51aa0	The former include obsessive compulsive disease, depression, @PHENOTYPICFEATURE$, tremor, dystonia, @DISEASE$ and cluster-headache.	false
+288275f4d9b685e63d2d52c0739ef181bbe4b535	Multiple studies report promising preliminary data regarding the safety and efficacy of DBS for a variety of neurological indications including chronic pain, @PHENOTYPICFEATURE$, epilepsy, @DISEASE$, Huntington's disease, tardive dyskinesia and Alzheimer's disease.	false
+6651693d6cf6dff1d04b493a02ea8c553015b096	A 14-year-old male is described with @DISEASE$, platyspondyly, a marked delay in bone age, @PHENOTYPICFEATURE$ that is more expressed in the limbs and talipes equinovarus.	false
+7d5215931c1a3060ae0abf6ef01344e751d4da45	PE was @PHENOTYPICFEATURE$, had Gilles de la @DISEASE$ and autism, with non-verbal ability in the normal range.	false
+84aa60980e9c66c5ebc97f7fbacda31f9c1fe26a	Trials and "proof of concept" studies of DBS are underway in pain, epilepsy, @PHENOTYPICFEATURE$, OCD, depression, and Gilles de la @DISEASE$, as well as in eating disorders, addiction, cognitive decline, consciousness, and autonomic states.	false
+83b2830390665061bf74d885ccce2624403b41cf	@DISEASE$, @PHENOTYPICFEATURE$, and platyspondyly: an entity?	false
+8c94dc68778846923af5a7302e23819ef0357f73	Moreover, slitrk variants are associated with several sensory and neuropsychiatric disorders, including myopia, @PHENOTYPICFEATURE$, obsessive-compulsive disorder (OCD), schizophrenia, and @DISEASE$.	false
+2350aae30921ae7d15269b664072756aaaea037c	A controlled family history study of @DISEASE$, II: Alcoholism, drug abuse, and @PHENOTYPICFEATURE$.	false
+264d8ad01d38ece8995ce028eedfb883ccb90ab2	We present six patients with Gilles de la @DISEASE$ (TS) who are also @PHENOTYPICFEATURE$.	false
+92443c5c9e906d7e0584bb2b1f58c7b2ca1fbcbd	The deficiency of ubiquitously expressed glucose-6-phosphatase (G6PC3) enzyme is known to result in a syndrome characterized by @DISEASE$, prominent superficial venous pattern, @PHENOTYPICFEATURE$ and genito-urinary malformations.	false
+e3c6101784d27fc77bbac7fdb27986cfe4e9f9d7	Cardiac and @PHENOTYPICFEATURE$ in a patient with sepsis and @DISEASE$.	false
+8d66ebc96243799cab102e19ecda0e379112573e	The association of a prolonged Q-T interval, @PHENOTYPICFEATURE$, and syncopal attacks due to ventricular fibrillation following emotional or physical stress is known as the @DISEASE$.	false
+366df0bc10ca187f7574cfecf3f31fad1bd7d786	The @DISEASE$ is characterized by an autosomal recessive pattern of inheritance and congenital neural @PHENOTYPICFEATURE$.	false
+a02510bbf50cd9d7e64b0d31c1fcc3f27da2c705	A retrospective case study was performed to document cochlear implantation in three profoundly @PHENOTYPICFEATURE$ children (two of them siblings) with @DISEASE$.	false
+4e8008d0cca6e3d62b0f9f9365fc5103ce61b668	An example is @DISEASE$ (one of the forms of long QT syndrome) which is characterised primarily by @PHENOTYPICFEATURE$ and prolongation of the QT interval.	false
+e7e8abb733fc9583a881dd65984820aae114042e	@DISEASE$ is characterised by @PHENOTYPICFEATURE$ and a long QT interval on electrocardiography.	false
+7015bf5fec12a1f896d83660d89a4edfa289b731	The Romano-Ward syndrome is of autosomal dominant inheritance, and the @DISEASE$, with associated @PHENOTYPICFEATURE$, of autosomal recessive inheritance.	false
+30af5d06025cc56ebe3e921708c387c7ee106cee	@DISEASE$ (JLNS) is a recessive disorder with @PHENOTYPICFEATURE$ and long-QT syndrome (LQTS 1).	false
+325674cd20eefbb022f12c4f9396b137360d8824	The @DISEASE$(JLN) is an infrequent form of long QT syndrome (LQTS) in which prolonged QT interval and @PHENOTYPICFEATURE$ exist together.	false
+3fcbdb4ac9bc77e5ff8bc4886c0e51e47fb6ddec	There is evidence of @PHENOTYPICFEATURE$ in congenital deaf school children, together called as @DISEASE$ or Long QT syndrome.	false
+102b557937a16c5a46adea850cba998ee883a5c2	@DISEASE$ (JLNS) is an uncommon form of LQTS, having autosomal recessive transmission, and is associated with @PHENOTYPICFEATURE$.	false
+173b259de58e96f6ed165df4f21cf0ee7ad859f9	MR imaging depicted a wide variety of knee joint abnormalities including osteochondritis dissecans, medullary infarcts, epiphyseal @PHENOTYPICFEATURE$, intraarticular osteochondral fragments, synovial cysts, joint effusions, intraarticular soft-tissue tumors, synovial disease, leukemic infiltration of bone marrow, @DISEASE$, and nonossifying fibroma.	false
+6188b9a457f70056dd4a5ad6994cf3b7eff85304	@PHENOTYPICFEATURE$ and vascular calcifications in @DISEASE$.	false
+5a1cb8a384ebfac279eb66e75e3a5d4162f6ae58	A 58-year-old man with @DISEASE$ was admitted with @PHENOTYPICFEATURE$ and hearing loss in both ears.	false
+2cd6bcf8cd12c80902214e5a73d0999353ed25fc	There was a higher prevalence of low back pain, hearing problems and @PHENOTYPICFEATURE$, numbness and neuropathic pain in @DISEASE$ patients.	false
+70f72ec583d136830a2bd8acc8a9b7ba51068bfc	This entity previously had multiple classifications and it is important to distinguish it from other keratodermas as some keratodermas can be linked to cutaneous and internal malignancies and conditions: @DISEASE$, liver cysts, Darier's disease, and @PHENOTYPICFEATURE$ among others.	false
+1c13e17822f7db6089a7563829bb873329fe8845	Gross deformity of the central echo complex is seen with @DISEASE$, as well as in @PHENOTYPICFEATURE$.	false
+5345628f15aa326dd13ce738e7e3b187afefa4a8	Postmortem examination confirmed @DISEASE$, chronic renal disease, mitral and aortic valvular myxomatous degeneration, and mixed mammary @PHENOTYPICFEATURE$.	false
+73ff0467e39a6eb4f2076797be39f7c0631a3d00	Patients with multiple @PHENOTYPICFEATURE$, prior nephrectomy, von Hippel-Lindau disease, and @DISEASE$ were excluded.	false
+c171a7d93230c40b27e567f05b80535839f26df8	Contralateral @PHENOTYPICFEATURE$ were detected in five children, which included ureteropelvic junction stenosis, ureterovesical junction stenosis, distal ureteral stenosis and @DISEASE$.	false
+fb03dd3b2e43c13131bbd5538027fb0fd354f0f8	Contralateral renal anomalies were detected in five children, which included ureteropelvic junction stenosis, ureterovesical junction stenosis, distal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c13f27ae745de10123d0414fede5efbb5743fe41	They may present as autosomal recessive or dominant @DISEASE$, with associated @PHENOTYPICFEATURE$ of the renal collecting system, or as incompletely characterized cystic diseases.	false
+0e09b7efe79cdd1089c601953adac2c0029f4b71	A rat model of chemical-induced @DISEASE$ with multistage @PHENOTYPICFEATURE$.	false
+fd48df7bd521fc1c78db9025adfc2a18fe315cdf	This review will focus on the expression and localization of MMPs and TIMPs in the kidney, as well as summarizing the current information linking these proteins to acute kidney injury, @PHENOTYPICFEATURE$/tubulointerstitial fibrosis, chronic allograft nephropathy, diabetic nephropathy, @DISEASE$, and renal cell carcinoma.	false
+2278fbc938067fc48b19bff926625ea0cdda8ae3	The most striking phenotypic aberration in the ApoE-hKGF transgenic embryos was marked hyperplasia and cystic @PHENOTYPICFEATURE$ of the cortical and medullary kidney collecting duct system, a phenotype resembling infantile @DISEASE$ in humans.	false
+95a980559aae741eac18fb2959416d409d280702	@DISEASE$: @PHENOTYPICFEATURE$ in disguise.	false
+ad6f958f997cbf041dce1e69668e594365f7ed7a	Five (33.3%) of them had absence epilepsy (@PHENOTYPICFEATURE$, ABS), 5 had IGE with generalized tonic-clonic seizures (GTCS), and another 5 had both seizure types (IGE with @DISEASE$/GTCS).	false
+b4211b020ff4187ff428c6fd9931b923ce0d586b	Five (33.3%) of them had absence epilepsy (@PHENOTYPICFEATURE$, @DISEASE$), 5 had IGE with generalized tonic-clonic seizures (GTCS), and another 5 had both seizure types (IGE with ABS/GTCS).	false
+656fca99e1db0269a926aafe229373a810d79ec8	We tested the hypothesis that the cortical areas with abnormal local EEG synchronization are dissimilar in the three common idiopathic generalized epilepsy (IGE) phenotypes: IGE patients with @PHENOTYPICFEATURE$ (@DISEASE$), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures exclusively (EGTCS).	false
+a1a623ac0a7065a6db43690df0b2a8d0b74a10f3	To explore this hypothesis, we compared the metaphonological skills of school-aged children with either temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), or generalized @PHENOTYPICFEATURE$ (@DISEASE$) with those of healthy controls.	false
+99bf4460b5edb067789c1eaa23e1d8e7d4d3fa43	Antenatal type I Bartter syndrome (@DISEASE$) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, @PHENOTYPICFEATURE$, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene.	false
+b5636668a38e227ae4928b9af613548232b9dc80	Using a retrospective study design, we compared the craniofacial morphology cephalometrically, of 14 Japanese girls at age 9 years with a @DISEASE$ (Group_CSP), with 13 age-matched Japanese girls with cleft soft and hard palate, not extending as far as the incisive foramen (Group_CPNIF), and 12 age-matched Japanese girls with cleft soft and hard @PHENOTYPICFEATURE$, extending as far as the incisive foramen (Group_CPIF), living in the same region (Hokkaido, Japan).	false
+69e648e4f8dd82f2c0d216b1a87e0b617714176a	He showed the following clinical features: @PHENOTYPICFEATURE$, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, @DISEASE$, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux.	false
+b79224b53c1553bd13209a32385bd5a403c6c1af	A ring 4 chromosome was found in a boy with low birth weight, @PHENOTYPICFEATURE$, micrognathia, rounded broad nose, malformed ears, @DISEASE$, and retardation in growth and development.	false
+198731f3c76edbf6573e4648fac4d25e0d7ee982	A 4-year-old male child had coloboma of the iridochoroid, @DISEASE$, hypertelorism with an antimongoloid slant of the eyes, @PHENOTYPICFEATURE$, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), mental and growth retardation, and a 47,XY + marker chromosome.	false
+78f6b4680e0e86837fe6e7199a7ddae855093fb7	Inherited mutations of ATRX cause syndromal mental retardation (ATR-X Syndrome) whereas acquired mutations are associated with myelodysplasia, acute myeloid leukemia (@DISEASE$ syndrome), and a range of solid @PHENOTYPICFEATURE$.	false
+0d7b049c6cdbcf15285fc3cf7c68fd4996a0610e	On the other hand, although the painful crises per year, tonsilectomy, priapism, ileus, pulmonary hypertension, chronic obstructive pulmonary disease, coronary heart disease, chronic renal disease, rheumatic heart disease, @PHENOTYPICFEATURE$ of bones, cirrhosis, and mortality were all higher in the stroke group, the differences were only significant for acute chest syndrome (@DISEASE$), digital clubbing, and leg ulcers (P<0.05 for all), probably due to the small sample size of the stroke group.	false
+39306143cb22769d0398e1a68648fe97ec7550d1	In the present study, 270 type 2 diabetes mellitus patients with nephropathy were enrolled and treated with @DISEASE$ inhibitor (ramipril) and followed at 6 mo for renal function and albumin excretion by estimating serum creatinine, @PHENOTYPICFEATURE$, and albumin/creatinine ratio (ACR) in urine.	false
+102e461c013e890e4a4ac1b6292d920d86921c11	@DISEASE$ type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild @PHENOTYPICFEATURE$, and facial abnormalities.	false
+efea23a71b760e5195944f71e8ce1754cd688f74	A total of 188 cases of pelvic fractures were retrospectively reviewed, and four patients who suffered from four types of rare pelvic fracture complications were described, namely @PHENOTYPICFEATURE$ caused by retroperitoneal hematoma-induced abdominal compartment syndrome (@DISEASE$), bowel entrapment, external iliac artery injury, and open scrotal sac injury.	false
+f612abc24ef10ff073601a883eb5e6ab20a4eed3	GH or @DISEASE$ deficiencies were not related to age, Glasgow @PHENOTYPICFEATURE$ Scale score, or the presence of other pituitary hormone abnormalities (P > 0.05).	false
+079734cebacc6da770cbbb17b48e5bea16d1ce20	In patients with @DISEASE$, non-infectious @PHENOTYPICFEATURE$, psychiatric disorder and dementia made up for 13.8%, 7.6% and 6.9%, respectively.	false
+2331412454d44e13014668f7f2b735e66dae8bd9	Acrocephalosyndactyl (@DISEASE$) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, @PHENOTYPICFEATURE$, and polydacytly.	false
+9dbc650f2c97ab54bd67fde5d7fdbcd4eb0b0f09	Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (@DISEASE$) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, @PHENOTYPICFEATURE$, skeletal deformity, and congenital heart malformations.	false
+92d7ddf0371cb9f4f6ed09070b3c6eb9f159e373	This technique was useful for follow-up evaluation of cerebellar function in patients with @DISEASE$ and was also useful for distinguishing @PHENOTYPICFEATURE$ from sensory ataxia in a patient with combined diseases.	false
+94e3b0deb29526d30d9eb3ba7048af39dd5f388f	Acrocallosal syndrome (@DISEASE$) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+2c2d1c2750e7e8cb5bcafd878af0445fa30e418a	@DISEASE$ (ACS) is an autosomal recessive disorder characterized by craniofacial dysmorphism, agenesis or hypoplasia of the corpus callosum, duplication of the phalanges of the hallux, more rarely the thumbs, post-axial polydactyly, @PHENOTYPICFEATURE$ and severe mental retardation.	false
+2c7ea397f01cb8bfde74a0bc7b1ba41cde29e955	The proteinuria and @PHENOTYPICFEATURE$ subsided 4 mths after the complete resection of the intradural component and partial removal of the extradural component of the @DISEASE$.	false
+b3ffd789607c8ca931e969f885f1999c2c2a8a61	The presence of split fat sign and bright rim sign, and the absence of lobular shape and extensive @PHENOTYPICFEATURE$ (edema with maximal extent larger than 18 mm) favor the diagnosis of @DISEASE$, especially when two or more of this imaging features coexist.	false
+83b2403b6a9eb84523ad8a248a9d0ec5ec7001cd	The presence of split fat sign and bright rim sign, and the absence of lobular shape and extensive edema (@PHENOTYPICFEATURE$ with maximal extent larger than 18 mm) favor the diagnosis of @DISEASE$, especially when two or more of this imaging features coexist.	false
+94c79d0087b5a60c6b5cd8d4fe73b585fda6bdc8	A patient presented with an intraparenchymal cyst and surrounding @PHENOTYPICFEATURE$ in the cerebellar hemisphere that developed after a C1 laminectomy and a small suboccipital craniectomy for the removal of an accessory nerve @DISEASE$ at the craniovertebral junction.	false
+804cc3abe052c58b0148252a941d6b3699461595	Cardiac @PHENOTYPICFEATURE$ are frequent in @DISEASE$ patients with manifest arterial disease.	false
+3945dd15a90e6aa81b78de954d9e9ec8be35e3d1	[@PHENOTYPICFEATURE$ in @DISEASE$ patients in echocardiographic assessment].	false
+a781e8b3a38054216a41c5a1d5ec67d5980c7378	Cardiac, especially @PHENOTYPICFEATURE$ are common in @DISEASE$ patients and increase with age and disease duration and activity.	false
+c7e9d1761e9f0f0cd4a58b97b2788fa67c416982	We describe a patient with @DISEASE$ and established lupus nephritis who subsequently developed cardiac manifestations including valvular abnormalities, arrythmia and end stage @PHENOTYPICFEATURE$.	false
+82c3e4b1be95bc32a91da9415fcb3183de8a60e9	We describe a patient with @DISEASE$ and established lupus nephritis who subsequently developed cardiac manifestations including @PHENOTYPICFEATURE$, arrythmia and end stage heart failure.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+4908453adbf71bd55600c0cc63a4db0eba9332a5	The variability of @PHENOTYPICFEATURE$ is one of the characteristics of @DISEASE$ (SLE).	false
+ca55270b662c7c1cc6d7f5c4efb910ba9565c310	Libman-Sacks endocarditis consists of aseptic @PHENOTYPICFEATURE$, associated with @DISEASE$ and antiphospholipid syndrome.	false
+ee8ddba32522c13ecf348dc8c8f2f172d2f521f1	Systemic lupus erythematosus alone, but not @DISEASE$ activity, was associated with increased @PHENOTYPICFEATURE$, preterm gestations, and fetal growth restriction.	false
+990beca9826f498d5b2e9fefd601b244e508f54c	@DISEASE$ alone, but not systemic lupus erythematosus activity, was associated with increased @PHENOTYPICFEATURE$, preterm gestations, and fetal growth restriction.	false
+a04e094906314c9cb52993ffe865a635a2551870	Serologic abnormalities in @DISEASE$ associated with @PHENOTYPICFEATURE$ and tuberculosis.	false
+c078c93762084d6d5cdfe31d9e93ade341b9133f	In our study using a murine model of fatty acid metabolism abnormality caused by @DISEASE$, @PHENOTYPICFEATURE$ and fatty liver developed depending on the amount of dietary fat.	false
+c2ee8b25a9f55457736984be2f2c4a4db91c46d4	Plasma @DISEASE$ (limited availability) can appear in the KTR group and does not correspond with signs of both malnutrition and @PHENOTYPICFEATURE$.	false
+298ae291a88a6dd6d8965e8cc989c472d4d806e8	Juvenile visceral steatosis (JVS) mouse is an animal model of human @DISEASE$ caused by a mutation of the gene encoding carnitine transporter, and suffers from various symptoms, such as fatty liver, @PHENOTYPICFEATURE$, hyperammonemia, hypoglycemia, and cardiac hypertrophy.	false
+cd480412bde453afa43a07d85a6db090c9c4e3a6	mice were resistant to HFD-induced @PHENOTYPICFEATURE$ and glucose intolerance with an absence of liver damage, although they exhibited serum dyslipidemia, hepatic oxidative stress, and systemic @DISEASE$.	false
+fe68ecd9693aecdc27aca1ed4e0f0db540d006c4	Case payment for @PHENOTYPICFEATURE$ surgery with Government Employee Insurance (GEI) was implemented at Chang Gung Memorial Hospital (CGMH) in March 1994, and fee-for-service (@DISEASE$) was retained for cataract inpatients with or without other health insurance.	false
+6db68b3d7463dcfa20065a0fef0ce457a4056837	Case payment for cataract surgery with Government Employee Insurance (GEI) was implemented at Chang Gung Memorial Hospital (CGMH) in March 1994, and fee-for-service (@DISEASE$) was retained for @PHENOTYPICFEATURE$ inpatients with or without other health insurance.	false
+51d33c6a433e1905088649e0bd02be20222f5045	A total of 43 patients, most of whom had mild @PHENOTYPICFEATURE$ or glaucoma with acuity 6/30 or better (median age = 72; range = 24-88 years), read aloud a selection of texts presented randomly in four sizes (10, 12, 14 and 16 point), for each of four typefaces [Foundry Form Sans (@DISEASE$), Helvetica (HV), Tiresias PCfont (TPC), Times New Roman (TNR)] at a standard line width of 70 characters and a viewing distance of 40 cm.	false
+6900ae3e0fb1e0e1864be4d9a0d771c822efb20f	A total of 43 patients, most of whom had mild cataract or @PHENOTYPICFEATURE$ with acuity 6/30 or better (median age = 72; range = 24-88 years), read aloud a selection of texts presented randomly in four sizes (10, 12, 14 and 16 point), for each of four typefaces [Foundry Form Sans (@DISEASE$), Helvetica (HV), Tiresias PCfont (TPC), Times New Roman (TNR)] at a standard line width of 70 characters and a viewing distance of 40 cm.	false
+1e0c12d1bf609be8cec8056979d685ebac205e35	To compare rates of @PHENOTYPICFEATURE$ extraction in 2 prepaid health settings and in traditional fee-for-service (@DISEASE$) settings.	false
+ce3e562d482a0fc5bfbead1495755c8cba7da00e	Women with early pregnancy @PHENOTYPICFEATURE$ who received @DISEASE$ gave birth to longer newborns (+7.3 mm; P = 0.002) than did those who received MMN supplementation.	false
+cea86d9f8755dabfd5bee8d78973884ed3a20aee	Because of the potential implications for vision care in the elderly, the significantly different rates of @PHENOTYPICFEATURE$ extraction in FFS and prepaid settings warrant further clinical investigation to determine whether there is overuse in @DISEASE$ vs underuse in prepaid settings.	false
+ddd0c470fd860861e8255f0f3d974bd934112b87	Because of the potential implications for vision care in the elderly, the significantly different rates of @PHENOTYPICFEATURE$ extraction in @DISEASE$ and prepaid settings warrant further clinical investigation to determine whether there is overuse in FFS vs underuse in prepaid settings.	false
+4204420b6fe761db61f56359817669656dd0ca42	@DISEASE$ (@PHENOTYPICFEATURE$, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.	false
+6d7615067fe675c2d2d3380b82f5169c5632c2c1	The analysis included sex and age distribution of registered population, classification and leading causes of visual @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ab3c6f8c9e19e7cad1a4ea82af9101fb857c238b	The patients had a relatively rapid progression of disease and had severe visual @DISEASE$ or paraplegia associated with @PHENOTYPICFEATURE$, headache, and pleocytosis.	false
+a2296d79b31199c06d38cc54e391bd45397ebe0e	In Central Africa cataract is a more important cause of @PHENOTYPICFEATURE$ and visual @DISEASE$ than retinopathy.	false
+aa0a901e9f517933b63a81be6872d0bfe54b126f	Prevention or delay of visual @DISEASE$ and @PHENOTYPICFEATURE$ caused by AMD or other retinal diseases and thus ensuring independence is not only relevant from a medical perspective but also from a health economic perspective.	false
+93b6583253f17efec95f85d757dda9c1788364c3	The patient presented with diabetes mellitus, sensorineural deafness, @PHENOTYPICFEATURE$, and mental @DISEASE$.	false
+7a5db30793bbd3fab214cb9d3d4a6c90f6d0e52d	Diabetic retinopathy remains the leading cause of visual @DISEASE$ and @PHENOTYPICFEATURE$ among professionally active adults in economically developed societies, which is of particular concern because the prevalence and incidence of Type 2 diabetes mellitus is expected to increase sharply during the next decade.	false
+176786e3186d348c712871ff884bfb65b8eb6877	Among the studied population, there are more males than females with visual @DISEASE$ or @PHENOTYPICFEATURE$ (56% versus 44%).	false
+16540de379734b817a8cc41060730651e253da1a	Endogenous uveitis is a common cause of visual @DISEASE$ and @PHENOTYPICFEATURE$.	false
+01ffa273426005c2fe2f1b01cf42cbc87b487772	These patients with XP are of @PHENOTYPICFEATURE$, have mental @DISEASE$, and develop progressive neurologic degeneration because of a severe inability to repair damaged DNA.	false
+b95c85afc67f8261419ebf2df6beae3491cd1f05	The pathogenesis of AMD, the leading cause of severe visual @DISEASE$ and @PHENOTYPICFEATURE$ in our community, remains unknown.	false
+d1fccc16c6283ac6014177b3c0fa0f39ceb8fc7a	Standard transurethral resection of bladder tumors (TURBT) was performed for all lesions visible in WL and NBI guided resection for solely @DISEASE$ observed @PHENOTYPICFEATURE$.	false
+c7d938968abf91f98081ba1825d6497bf50892df	The @PHENOTYPICFEATURE$ progression index was not significantly reduced with @DISEASE$ compared to WLI (P > 0.05); however, the recurrence index was significantly lower in the NBI group (P < 0.05).	false
+736bc359cd873ed31c9a44237e6f6fdf8f1f9ca9	The aim of this study was to examine the impact of dystonia aetiology and duration, @PHENOTYPICFEATURE$, and age at deep brain stimulation (DBS) surgery on outcome in a cohort of children with medically refractory, disabling primary, secondary-static, or secondary-progressive dystonias, including @DISEASE$ (NBIA).	false
+f4f6fc24f2c8ed6617faf66f846214673577d560	All specimens in the lesion surfaces from cyan-colored areas under @DISEASE$ contained @PHENOTYPICFEATURE$ cells.	false
+f36618e11fda6b44fd486df37118e04535e14984	Standard resection was performed for all lesions visible in white light and NBI transurethral resection of bladder tumors for only @DISEASE$-observed @PHENOTYPICFEATURE$.	false
+c234843bf4bdf3b7ae150ab8e5e7b8fc0f8fadf1	When compared with @DISEASE$, CLE significantly increased the per-lesion detection rate of esophageal @PHENOTYPICFEATURE$, HGD, and EAC in BE patients.	false
+f1225ed79580d5e2f10d8df65c231f29fea02337	Magnifying colonoscopy with @DISEASE$ has been shown to be useful for the differential diagnosis of @PHENOTYPICFEATURE$.	false
+534f2e022060ea970ac93c98bd553ca00e9c9912	PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early @PHENOTYPICFEATURE$, and the syndrome was classified as @DISEASE$ (type 2).	false
+3fade669101135f2e907392c008e1462a01f1b13	We propose a pragmatic presentation based on several established classifications and we will distinguish inherited PPS found in complex hereditary spastic paraplegia, young onset parkinsonism, @DISEASE$, primary familial @PHENOTYPICFEATURE$, inborn errors of metabolism, and few rare others inherited neurodegenerative diseases, then non-inherited neurodegenerative PPS.	false
+9773aba507b5733524dda4e8e4076c9254cd85e5	We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, @DISEASE$, and primary familial @PHENOTYPICFEATURE$.	false
+5fc263749b8eab1dbe2a15b7b3b05cbefb1d2eec	In contrast to the findings in relation to @PHENOTYPICFEATURE$, immunopositivity for mos in @DISEASE$ did not predict recurrence-free or overall survival time.	false
+29eb9ad71bb72631f4f16c7ff72cbcada1c0e9b6	@DISEASE$ is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$ and dysmorphic features.	false
+7f0be63b0e96d96d407ec31a235e8cd55720f51a	To describe presenting symptoms, evaluation findings, and surgical management of cranial base @PHENOTYPICFEATURE$ in patients with Camurati-Engelmann disease (@DISEASE$).	false
+1de80236ad457a57784b16f4d0619e7370d58160	Cranioectodermal dysplasia (@DISEASE$, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and @PHENOTYPICFEATURE$, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure.	false
+e885325be014d5423507c3f5afa58fc1d4841efc	Unlike most other skeletal chondrodysplasias presenting with neonatal @PHENOTYPICFEATURE$, a proportion of patients with @DISEASE$ may survive well beyond the neonatal period, and hence early identification of the condition is important.	false
+3b45aab15e9cfdd19db2434801305de40b66a68c	We report a 46-year-old male who presented with fever and flaccid weakness of all four limbs due to @DISEASE$ associated @PHENOTYPICFEATURE$.	false
+0e5fc9ae7bd55d173a39c6cc01a1f3b1976b7a0d	To our knowledge, this is the first known case of a patient with @DISEASE$ and very elevated CSF, which caused @PHENOTYPICFEATURE$.	false
+1531e06b59c3e33263e62b4e262dd764bc956718	Global developmental delay (@DISEASE$) and @PHENOTYPICFEATURE$ (ID) are common concerns in the paediatric setting.	false
+5d1ceac8785a563ad26f62d8124ff08a20ddc51f	Global developmental delay (@DISEASE$) and @PHENOTYPICFEATURE$ (ID) are frequent reasons for consultation in paediatric neurology departments.	false
+f030746fd76d0eff8bbcb29601d147f91229cab7	Advanced technology has become a valuable tool in etiological studies of @PHENOTYPICFEATURE$/global developmental delay (ID/@DISEASE$).	false
+fcbd0770a9b51799e6e3e5ae7744542737fc358f	Pediatricians play a leading role in the detection, diagnosis, and management of children with global developmental delay (@DISEASE$) and @PHENOTYPICFEATURE$ (MR).	false
+136e542cab190869b128bb55c56ca55dd055bcdb	Global developmental delay (@DISEASE$) and @PHENOTYPICFEATURE$ (ID) are common reasons for consultation in paediatric neurology.	false
+2756004174a4fd0fa7b374d22c7050dfcb0478ee	Genetic factors are responsible for up to 40% developmental @PHENOTYPICFEATURE$ cases, such as global developmental delay/intellectual disability (@DISEASE$/DI).	false
+9ae0b1ae477c90f580ba6c9ef7370af0da838ad8	Perinatal/neonatal causes predominate as the cause of @DISEASE$ or @PHENOTYPICFEATURE$ in India.	false
+31bd7dcd506da33998cab2151bc82a524c862fca	Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (@DISEASE$), intellectual disability (ID), severe speech impairment and @PHENOTYPICFEATURE$.	false
+febf766314cfa0fe626f8e3738cde38da9c6615e	Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (@DISEASE$), @PHENOTYPICFEATURE$ (ID), severe speech impairment and gait abnormalities.	false
+514034f1e7f5b3dfbad9c9f770f04a9fe18fac6a	Global developmental delay (@DISEASE$), often accompanied by intellectual disability, @PHENOTYPICFEATURE$ and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder.	false
+170a7c85965ffdbe21519a66ee48d09309ea2a5d	Global developmental delay (@DISEASE$), often accompanied by @PHENOTYPICFEATURE$, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder.	false
+8d0925b62930b0daeb4f39e6e220f363aa8e5d5f	Fragile?X is the major genetic cause of @DISEASE$ with @PHENOTYPICFEATURE$ (MR) in males, accounting for ~20% of all X-linked MR.	false
+08c77258b91ba0d59738eb6176c55622d61c4f48	Thromboembolic complications in infants with @PHENOTYPICFEATURE$ are common despite inhibition of platelet function with acetylsalicylic acid (@DISEASE$).	false
+d8896c8fb83a325c8f988d77ed49ca48f25be3b4	@DISEASE$ or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+a238cdd51da2c35fea61644df7926be6976a7540	Pseudoaminopterin syndrome or @DISEASE$ (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and @PHENOTYPICFEATURE$.	false
+6a27eb2e48f2854878a98973ee6379ba25f7a913	In secondary prevention anticoagulation is only recommended for special conditions, such as @DISEASE$ intolerance (alternative: clopidogrel), ventricular aneurysm, ventricular thrombus, severe @PHENOTYPICFEATURE$ and/or atrial fibrillation.	false
+9b49b3788ade2b1cda3cf1261491a966b1ab45a6	Less edema was found in the patella, whereas more @PHENOTYPICFEATURE$ was found in the @DISEASE$, where subchondral bone is primarily involved.	false
+3f5c070ebd5e777c154c84a1f7278d22ec21b952	Less @PHENOTYPICFEATURE$ was found in the patella, whereas more edema was found in the @DISEASE$, where subchondral bone is primarily involved.	false
+6a144c75b27dd0a0ba18d80cc54a21c5db33d426	Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic @PHENOTYPICFEATURE$ in the @DISEASE$ rat.	false
+ef32473092071f2441f047b153899f3946a92543	Compared with unaffected and control condyles, the @DISEASE$ group showed chondroepiphysial widening (p < 0.001) and subchondral bone @PHENOTYPICFEATURE$ (p < 0.001) on MRI.	false
+7009ac7e4d53dbdeb6c698c256d0788b03f86070	Among 117 patients with @DISEASE$, hand @PHENOTYPICFEATURE$ was present in 81.2%.	false
+e1d36dc5019e3b358c4c4f381b575c92e6cb56dd	In the control athlete group 2 asymptomatic cases of @DISEASE$ and one case of bone @PHENOTYPICFEATURE$ were detected.	false
+8013eb0c26eb99e917afd72672e5a29aec8156e9	MRI subsequently revealed @DISEASE$ associated with external humeral condyle bone marrow @PHENOTYPICFEATURE$.	false
+9236346904ff9dd0bd8b8e01b1e4221ade2e5272	MRI of children with @DISEASE$ consistently showed secondary physis disruption, overlying chondroepiphysial widening, and subchondral bone @PHENOTYPICFEATURE$.	false
+b8acd7e3db23d9a9a3e295f188b12b67bfc0dcb5	A second MRI was planned for patients with @PHENOTYPICFEATURE$ and @DISEASE$ at a mean of 12 months.	false
+640e59b1eeee293b5b7a7d77c13fc1faabc739d6	Some early risk factors may be associated with the expression of @DISEASE$ later in life such as @PHENOTYPICFEATURE$ during pregnancy and prolonged labor.	false
+ab035fd324366adece7bd5fc31a238f4a289cb8b	Patellar lesions presented significantly lower edema (p = 0.012), whereas @DISEASE$ lesions presented more edema at all follow-up (p = 0.002) and a different trend, with an increasing level of @PHENOTYPICFEATURE$ over time.	false
+3f48e58759df3f33f4d1b7428b5cfac5cf7f2da5	Patellar lesions presented significantly lower @PHENOTYPICFEATURE$ (p = 0.012), whereas @DISEASE$ lesions presented more edema at all follow-up (p = 0.002) and a different trend, with an increasing level of edema over time.	false
+e647c8210ce7d9234047e2fddd13202cb3e588db	Patellar lesions presented significantly lower edema (p = 0.012), whereas @DISEASE$ lesions presented more @PHENOTYPICFEATURE$ at all follow-up (p = 0.002) and a different trend, with an increasing level of edema over time.	false
+d51138183ce957c11b831216d0e553263bb3ef7a	The animals showed spike, spike and wave complex, and secondary @PHENOTYPICFEATURE$ (@DISEASE$) with high frequency components on EEG within 1 hr after the gel application.	false
+d6f3cf994acbca829030a36d4fb0b5cb6255d407	Secondary end points were the length of hospital stay and the proportion of patients with secondarily @PHENOTYPICFEATURE$ (@DISEASE$) during video-EEG, postsurgical seizure outcome, and hospital cost.	false
+e11073088df98c0c97da15fa67c015fe6d081534	One is partial epilepsy with complex partial seizures (CPS) and the other one with secondarily @PHENOTYPICFEATURE$ (@DISEASE$).	false
+cb0522cbc841b9868fe8dcc08e8fdb86b9b0e818	To analyze occurrence of falls among patients with partial seizures, with/without secondarily @PHENOTYPICFEATURE$ (@DISEASE$), and primary generalized tonic-clonic seizures (PGTCS) in the perampanel phase III clinical studies.	false
+74133138d50fe4a9285a61807c54075f41db4413	We tested the hypothesis that secondary @PHENOTYPICFEATURE$ (@DISEASE$) are not truly generalized and may involve selective regions.	false
+6f469684b4616e03fbe5ef48f21fe3bff6853bef	BPEI was defined as epilepsies with complex partial seizures (CPS) or secondary @PHENOTYPICFEATURE$ (@DISEASE$), or both, compatible with the following characteristics: normal development before and after onset, no underlying disorders, normal interictal electroencephalograms (EEGs), and good response to treatment.	false
+eb09ddf4dff97a5a4ad9ae4983cbbbeded399501	AD-810 suppressed both interictal spikes and secondary @PHENOTYPICFEATURE$ (@DISEASE$), induced by cortical application of tungstic acid gel, in intact and decerebrated rats.	false
+5d79e46ea5ed6a0a31d514cfb14cc2a2e7309451	All of them had complex partial seizures (CPS), besides EDA, and half of them had secondarily @PHENOTYPICFEATURE$ (@DISEASE$).	false
+f0ee5b771fdc89b3fefaa502fcef8c1d9a175e1e	We distributed patients in subgroups based on seizure type (focal seizures [FS], secondarily @PHENOTYPICFEATURE$ [@DISEASE$], primarily generalized seizures [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+14a32797f47be79896240bc93090fb1d8ca0ec46	We distributed patients in subgroups based on seizure type (focal seizures [FS], secondarily generalized seizures [@DISEASE$], @PHENOTYPICFEATURE$ [GS]) and antiepileptic drug (AED) regimen (mono- vs. polytherapy).	false
+b115b4db499e75c5fdb97cd0fad10b5ad32697d7	MT-I/II levels did not correlate with any clinical variables, but MTLE patients with secondary @PHENOTYPICFEATURE$ (@DISEASE$) had less MT-I/II than MTLE patients without SGS.	false
+283aca25c32c8e3a90959198b872f9713da9f84f	Many muscle diseases also affect pulmonary function, including polymyositis/@DISEASE$, @PHENOTYPICFEATURE$, hereditary channel disorders, mitochondrial encephalomyopathies, acid maltase deficiency, and congenital myopathy.	false
+815dc550f1a79f6ff742d8f1bf2d7753d434aba1	We report a case of anti-phospholipid syndrome that presented with bilateral @PHENOTYPICFEATURE$ and subsequently developed pulmonary infiltrates in association with the characteristic muscular and cutaneous features of @DISEASE$.	false
+485768de8a924b3cdbfb1bce124d77464e3fa57c	Focal discontinuity of muscle cell-surface dystrophin staining was observed in one patient with a congenital, autosomal recessive @PHENOTYPICFEATURE$ and in one out of five patients with polymyositis/@DISEASE$.	false
+8b81975b95238c295aefc26d65dad27c013c4b44	A complete remission of the @DISEASE$ and the @PHENOTYPICFEATURE$ of the radial nerve were achieved within months with prednisolone medication and physiotherapy; the peroneus nerve paralysis improved only slightly.	false
+a0599b6ee22918019454f829635c72d196455d28	Skin abnormalities are most frequently found in patients with @DISEASE$, myotonic dystrophies, mitochondrial disorders, @PHENOTYPICFEATURE$, and neuropathies.	false
+ccab01d00c85f00745b4c4c779a2551bbad7a531	To assess the association between diabetes mellitus (@DISEASE$) and metformin use with prognosis and outcomes of non-muscle-invasive @PHENOTYPICFEATURE$ (NMIBC) PATIENTS AND METHODS: We retrospectively evaluated 1117 patients with NMIBC treated at four institutions between 1996 and 2007.	false
+f1fc8e6753ae1093b42c0473ef965f26a843b94c	Wolfram syndrome (WS) is an autosomal recessive @PHENOTYPICFEATURE$ disorder characterized by diabetes mellitus (@DISEASE$), optic atrophy (OA), central diabetes insipidus (CDI) and deafness (D).	false
+7a45ad7cf4f044b3b59546d2ef5c249e19fab3bf	Using direct immunofluorescence the deposition of IgG, IgM, IgA, Clq and C3 was studied on muscle biopsies from 39 patients with polymyositis/@DISEASE$, 21 patients with @PHENOTYPICFEATURE$, 57 other disease controls and 10 healthy volunteers.	false
+265fdadb45a1b5a9073cdfa0f114aa04489070aa	Mechanical circulatory support (@DISEASE$) is an established therapy for end-stage @PHENOTYPICFEATURE$.	false
+d622ceccbcc47dd5968a5b99bbe71e940d87a4f6	However, @PHENOTYPICFEATURE$ was not associated with @DISEASE$.	false
+10729c7c6e347f1bff1fac05d04d667f39852d8c	Subsequently, the field of @PHENOTYPICFEATURE$ has gained a great deal of knowledge regarding the nuances of @DISEASE$ in children.	false
+6cdb42d72dec0079e89d4a688436fe84fe18dd48	Mechanical circulatory support (@DISEASE$) has become an indispensable tool in the management of children with impending respiratory and @PHENOTYPICFEATURE$.	false
+699ff3a41479ba68e40e5cb7ea14f41436369d09	Mechanical circulatory support (@DISEASE$) is an option for the treatment of medically intractable end-stage @PHENOTYPICFEATURE$.	false
+6e9fe2e1617b0db50abb3f600d8e6687dc6d2034	Mechanical circulatory support (@DISEASE$) is an evolving advanced therapy for end-stage @PHENOTYPICFEATURE$.	false
+9c3fb76252fcad48967aa95848257f21d87863d3	PCS was markedly lower among those reporting stroke, @PHENOTYPICFEATURE$, and osteoarthritis, but they were not associated with @DISEASE$.	false
+a854dfe816764b72efab11c566da15a14608cd2e	Even in the @PHENOTYPICFEATURE$ subgroups, when @DISEASE$ was implanted without recent cardiotomy, the differences were significant.	false
+bf8cc9d9b924d2fc69f87ee9f8f3ea9711cca9fa	Mechanical circulatory support (@DISEASE$) therapy is associated with the improvement of long-term prognosis in patients with end-stage @PHENOTYPICFEATURE$.	false
+d452e1d173185b141968c48555af54b0d87ea37e	Currently, the use of mechanical circulatory support (@DISEASE$) is an essential aspect of the treatment of patients with @PHENOTYPICFEATURE$.	false
+754f16542bfcf0679e382268800aa911c036beea	An inborn @DISEASE$ of purine metabolism, @PHENOTYPICFEATURE$ and neurodevelopmental abnormality.	false
+28f92ba75d98a27b02f627610027f565c61e2af8	Of 84 patients with spontaneous @PHENOTYPICFEATURE$, 31 @DISEASE$ patients were divided into 2 groups.	false
+8da4ff226413890481f0b96d91d5e9c7ef135547	@DISEASE$ with @PHENOTYPICFEATURE$ and asthma: a rare association in a Moroccan child.	false
+d21ddf961851c3273a212992a926a44c167aef8a	Examples include inborn @DISEASE$ in mitochondrial metabolism or end-stage @PHENOTYPICFEATURE$.	false
+59ac3e66a8ca73c540b9ae78610fdd2f45749102	The major causes of primary @PHENOTYPICFEATURE$ include dietary @DISEASE$ (e.g.	false
+20cee17f53e4fa91042d6fd60973292d5d4484fd	Richner-Hanhart syndrome (tyrosinemia type 2) is an inborn @DISEASE$ of tyrosine metabolism which is clinically characterized mainly by oculocutaneous symptoms including @PHENOTYPICFEATURE$ and keratosis palmoplantaris.	false
+742b2031398f960df1aeb4b26ab40b0619ef081e	Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inborn @DISEASE$ of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and @PHENOTYPICFEATURE$.	false
+556d3dad8eb8f1974151932fee4ac9fc6ceb15f1	This finding, together with neurosensory @PHENOTYPICFEATURE$ and other neuromuscular defects, may suggest that there is an underlying inborn @DISEASE$ of nervous system in the KID syndrome.	false
+67ba627a1b53ed94794b459a87468968484dc5ac	[Screening test detection of genetic @DISEASE$ of metabolism in children with @PHENOTYPICFEATURE$ (author's transl)].	false
+2c8805b10ba2879a2b414b56b790eadd868b213e	In the @DISEASE$ group, all patients were male and most patients experienced @PHENOTYPICFEATURE$ during sleep or low activity (79%).	false
+49de6539135246aa1d70870a8dfb3757a18c9089	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute @PHENOTYPICFEATURE$, cerebrovascular accident seizures, hyperglycemia, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+116fd9be71e6b8ab2ab0d26c23e305060de7802f	[A case of @DISEASE$ complicated by acute @PHENOTYPICFEATURE$ and transient diabetes mellitus.	false
+3eee3f090932a18b8d66081cbfe0f7b105df6d3f	An 18-month-old girl presented with clinical manifestations of @DISEASE$ including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic @PHENOTYPICFEATURE$, and severe hypoparathyroidism.	false
+199086c3445edacda48f330221f11c8fe4ec51bc	@DISEASE$ (AMS) is characterized by absent or short eyelids, macrostomia, @PHENOTYPICFEATURE$, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients.	false
+ab21168b6ca8cbb8d73dc81cb16294c936987497	The present patients and the previously reported male patients from four families (clinical OFD1; @DISEASE$ with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and @PHENOTYPICFEATURE$), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).	false
+986ad29cc8f729c1057d242462ab3fc0dc3bc1d5	The A-ZIP/F-1 transgenic mouse is a model of @DISEASE$ with severe insulin resistance, hyperglycemia and @PHENOTYPICFEATURE$.	false
+e8b854a2067e89f524fff5bf83745479dcd7571a	A daughter of second cousins is described as having @DISEASE$, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, @PHENOTYPICFEATURE$, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+1686fe77a89d688aeb97e7698989515259b4b225	A daughter of second cousins is described as having @DISEASE$, @PHENOTYPICFEATURE$, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies.	false
+f6b5c1c715267aef2a9ec2f91aef1cb0a28f0977	The A-ZIP/F-1 phenotype strikingly resembles that of humans with severe @DISEASE$, including the lack of fat, marked insulin resistance and hyperglycemia, @PHENOTYPICFEATURE$, and fatty liver.	false
+58aa3dbbf867b59b940e7d9f97399d3b4af3a396	Chronic infections with hepatitis C virus (HCV) are associated with various @PHENOTYPICFEATURE$ manifestations, i.e. mixed cryoglobulinemia, @DISEASE$, autoimmune thyroid diseases, sporadic porphyria cutanea tarda and B cell lymphoma.	false
+93cccb17eb347c03825dfb7a05b7d0771409a50c	By 6 months of age, ABCA1-/- animals develop @DISEASE$ due to deposition of immunocomplexes followed by cardiomegaly with ventricular dilation and hypertrophy, ultimately succumbing to @PHENOTYPICFEATURE$.	false
+352cee29cc91b9e20bdc2c8cc7c714a10fe16488	The results were compared to 95 renal disease control patients, which included @DISEASE$, light-chain deposition, IgA nephropathy, and @PHENOTYPICFEATURE$-related glomerulopathy (ORG).	false
+66dc67e02eca43c44fd2cc51ebb875992e328618	Further diagnostic measures confirmed Sj?gren syndrome and revealed cryoglobulinemic vasculitis, @DISEASE$ with acute renal failure, Hashimoto thyroiditis, and acute @PHENOTYPICFEATURE$.	false
+8bfab6915f1c94fe400263e648bfa3ae5d0372f0	Prenatal diagnsis of intracardiac @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a66bc42dddef5905596a187c551323a9aecebbc0	Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive @PHENOTYPICFEATURE$ as well as in females with X-chromosome abnormalities such as the @DISEASE$.	false
+0ddb6577b82124e994474221a143166bc722e2fc	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, Phenylketonuria, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, @DISEASE$, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+f5e25cd4888cf7c6f3d6f65fa43d1995c475f04b	Univariate analysis demonstrated the following significant predictors of mortality: right ventricular dominance (p = 0.0023), mechanical circulatory support before stage 1 (p = 0.0192), and significant noncardiac abnormality or syndrome, including Down syndrome, @DISEASE$, heterotaxy, asplenia, polysplenia, @PHENOTYPICFEATURE$, or other chromosomal abnormality (p < 0.0001).	false
+138a0a3f944b0c6f1bc9d554a853b9fc4e54aef7	From this series we conclude that tibial lengthening via distraction osteogenesis can be used to treat @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+f5bc61c352db3ce96d53130913845e26e4dd734d	Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-@DISEASE$ including short stature, ptosis, webbed neck, nevi, cubitus valgus, @PHENOTYPICFEATURE$, malformed great vessels, and abnormal ovaries.	false
+6c8f1b922651f1d5623dd897f640a3e2472a2cdf	SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), @DISEASE$, and @PHENOTYPICFEATURE$ (DSS).	false
+b33dae3f9dbf3a39d4fc9cad0d581b275553b071	CASE 1: A 36 year-old female with known @DISEASE$ and recent history of single @PHENOTYPICFEATURE$.	false
+ef7c747541a77a90e20997f85b5a04af55b4da30	Our data suggest that patients with @DISEASE$ are extraordinarily prone to abnormalities constituting the metabolic syndrome (e.g., hypertension, dyslipidaemia, NIDDM, obesity, hyperinsulinemia and @PHENOTYPICFEATURE$).	false
+1d450c3e44a2bdcd95690403545b6a24aa4850fe	Skin mastocytosis with @PHENOTYPICFEATURE$, conductive hearing loss and @DISEASE$: a new syndrome.	false
+253bec3fa8e303752391167fedfdaa42b4fe8522	@DISEASE$ and @PHENOTYPICFEATURE$: a new syndrome.	false
+2d4c8ccdcd37a1b584554cd139c53d71bc983ea4	Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile @DISEASE$ Late-Onset Neuroaxonal Dystrophy and Dystonia @PHENOTYPICFEATURE$ Complex.	false
+f1bbb950735bca3b6a550153dc9198544b409051	Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and @PHENOTYPICFEATURE$), Denys-Drash syndrome, and @DISEASE$ (FS).	false
+54583ff3bcf7d6763b1bf095e1a56592d8c0fda0	Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), @DISEASE$ (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and @PHENOTYPICFEATURE$).	false
+b4936a309d0685af1bc69a06054d70a35a49246f	DMS is a phenotypic expression of syndromic entities such as WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies and @PHENOTYPICFEATURE$), Denys Drash syndrome, Pierson syndrome, @DISEASE$, or Galloway-Mowat syndrome.	false
+8d15b565ca4ed3cb3951457cadf69393d482b434	Occasionally, it is combined with other neurologic and endocrinologic symptoms such as @PHENOTYPICFEATURE$, dementia, diabetes, and @DISEASE$.	false
+ae48dbcb6449e38c671dca4e2c03b7f48b88b8d5	@DISEASE$ and suspected @PHENOTYPICFEATURE$ in an 18-month-old boy.	false
+24f92d64f58496acb14d267d20ebd56904f5c69e	Oral steroid treatment achieved dramatic @PHENOTYPICFEATURE$ control at the expense of @DISEASE$ and progressive fatty liver disease.	false
+77e043621a58859f562d4fc1c13e3dcc89a549af	A woman with ectopic corticotropin-dependent @DISEASE$, diabetes mellitus, carcinoid tumor, and a history of thyroid cancer had the precipitous onset of @PHENOTYPICFEATURE$ and fever, and hypotonic polyuria and progressive hypernatremia developed.	false
+80d7ebdfb76495d5fb7200695be5562a6368d332	We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, @PHENOTYPICFEATURE$, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and @DISEASE$.	false
+96386676a90529767a37c2d21301f5bc0f8b465c	To report an unusual case of @DISEASE$ caused by an adrenal pheochromocytoma, manifesting as pseudo-central hypothyroidism and diabetic hyperosmolar @PHENOTYPICFEATURE$.	false
+7f4515c73bca5312fe0c957b9770064c31b995d4	Reversible posterior @PHENOTYPICFEATURE$ syndrome associated with micronodular adrenocortical disease and @DISEASE$.	false
+416c8d1dd0390b1e221aac1368d8f747a6bc984d	Central hypoventilation syndrome (@DISEASE$) is a disorder characterized by little or no ventilatory or arousal sensitivity to hypercapnia and variable reactivity to @PHENOTYPICFEATURE$, with little or no hypoxic arousal responsiveness.	false
+4001db824d6a3fa5f554d130e80b715776cd7384	Cats with @DISEASE$ also had @PHENOTYPICFEATURE$.	false
+845a803f117374aa1c470116b39df54ed3ebcf70	Similarly, BPZE1 nasal pretreatment markedly inhibited ear swelling, @PHENOTYPICFEATURE$, and production of pro-inflammatory cytokines in the DNCB-induced @DISEASE$ model.	false
+1596caa90bf7d8cfefdc0287e0b3d211b7cac302	Comparisons of 4 FRAIL-BR items (ie, @PHENOTYPICFEATURE$, aerobic capacity, fatigue, and physical resistance) to the respective @DISEASE$ components showed an independent diagnostic property of all measures, with the exception for weight loss.	false
+48fad97580d8aaaaaf944fc256d9a31f36b3f620	Genetic analysis of the CDC73 gene [for @PHENOTYPICFEATURE$-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for @DISEASE$ (JPS) (sequencing and MLPA), karyotype and array CGH (44?K) were all normal.	false
+bc5151c5cb0a99623e1fd00d0f183a2a04b9bdde	Genetic analysis of the CDC73 gene [for @PHENOTYPICFEATURE$-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (@DISEASE$) (sequencing and MLPA), karyotype and array CGH (44?K) were all normal.	false
+0b7fadb3ce6930a9528142cfc4a39cb29e69948e	Here, we present a case of a primary intracranial @DISEASE$ in a 23-year-old Japanese man who presented with @PHENOTYPICFEATURE$ and a mass in the left frontal lobe.	false
+fcaad433b09da2812a578f40170571b269bbb575	Grade 3-4 toxicities were anaemia 10.6%, neutropenia 2.6%, @DISEASE$.2%, diarrhoea 18.9%, @PHENOTYPICFEATURE$ 2.7%, infection 5.4% and lethargy 37.8%.	false
+9f2cc4281a3c9c0309b82ec8806905345197bc6d	The most common grade 3-4 toxicities by patients were diarrhoea 20%, asthenia 10%, nausea 7.5%, @PHENOTYPICFEATURE$ 5.0%, abdominal pain 5%, neutropenia 38.5%, leucopenia 28.2%, anaemia 12.8% and @DISEASE$.1%.	false
+b599d19a6ee5489b21ef650063b1d2242d7f588d	Some 56.8% of patients manifested with myelosuppression, 37.8% with leucopenia, 24.3% with @DISEASE$.41% with diarrhea, 46.0% with @PHENOTYPICFEATURE$, 21.6% with hair loss and 8.11% with hepatic and renal injury during the treatment.	false
+971173abb8f78a5ff6cd37b3788a0eb84378b30e	The incidence of grade 3-4 toxicity per patient in any cycle was: stomatitis 7.5%, nausea/@PHENOTYPICFEATURE$ 2.5% and diarrhea 45% for the infusional part, neutropenia 37.5%, anemia 2.5%, @DISEASE$%, alopecia 5% and diarrhea 10% for the CPT-11 part of the regimen.	false
+3646a7e656dea6fee1e7ec641ca46a2ec7bf3764	@PHENOTYPICFEATURE$ in patients with a @DISEASE$/paraganglioma (PPGL): A review of clinical cases and postulated pathological mechanisms.	false
+a6855c945fab9cd7a3a669da35ba6f836548a56d	This review discusses the management of diabetic ketoacidosis, hyperosmolar hyperglycaemic state, hypoglycaemia, hypercalcaemia, thyroid storm, myxoedema @PHENOTYPICFEATURE$, acute adrenal insufficiency, @DISEASE$ hypertensive crisis and pituitary apoplexy in the adult population.	false
+abd538ecd4cfc48a58a2f4496a6862a327d112bf	@PHENOTYPICFEATURE$ as a presenting symptom of @DISEASE$ in a young soldier.	false
+175b0c31eb9d244a5c8f86957bda8513f466d562	@DISEASE$ (GHIS) is caused by a defective growth hormone receptor (GHR) and is associated with insulin-like growth factor-I (IGF-I) deficiency, @PHENOTYPICFEATURE$ and, from adolescence, fasting hyperglycemia and obesity.	false
+eaf0afac3b5d6b1a5d16ff982565bfde8ce5599c	A second patient with @DISEASE$: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and @PHENOTYPICFEATURE$.	false
+32b74e3ad2b3768f69ab8e03ae2d9f627a202bc3	Skeletal dysplasia, hyperpigmentation, cutis laxa, endocrine abnormality, and @PHENOTYPICFEATURE$--the @DISEASE$.	false
+972ee761c8970db86f52ab63926754cce1c21bc3	Although @DISEASE$ is a metabolic disorder associated with renal dysfunction, we suspect that a trafficking defect of transporter rBAT-BAT1 in brain might cause neuronal degeneration, leading to cerebellar and @PHENOTYPICFEATURE$.	false
+0b42a99cfcf23fd52eb4ae6d783716bd3fc15c07	@DISEASE$ normally manifests as recurrent urinary stones and renal dysfunction, but can present to neurologists with ataxia, posterior column impairment, intellectual deficiency and pyramidal and extrapyramidal signs; the neuroradiological features include cerebellar, brainstem and @PHENOTYPICFEATURE$.	false
+d3cbe4ac4d977c5128ceccdf9c5ed82a3c2737e3	While motor dysfunction is a hallmark feature of the condition, generalized fatigue, @PHENOTYPICFEATURE$, decreased endurance, neuropsychological deficits, sensory symptoms, and chronic pain are also often reported and have considerable quality of life implications in @DISEASE$.	false
+9ea9f85a0a1cd843f847f15b27a315d44c782a7b	Univariate logistic regression analysis indicated that use of opioids, anticonvulsants, benzodiazepines, steroids, polypharmacy, infection, malnutrition, immobilization, @PHENOTYPICFEATURE$, constipation, hyperbilirubinemia, liver/renal failure, pulmonary failure/hypoxia, electrolyte imbalance, brain cancer/metastases, decreased @DISEASE$, and increased PPI were risk factors.	false
+17c24c5c4865c493835b2513ec2a132e790ff7d9	A literature review has been done on Medline with the following keywords: neuromuscular disease, @PHENOTYPICFEATURE$, myopathy, fatigue assessment, exercise intolerance, force assessment, fatigue scale and questionnaire, then with the terms: Fatigue Severity Scale, Chalder Fatigue Scale, Fatigue Questionnaire, Piper Fatigue Scale, electromyography and the combination of the word Fatigue with the following terms: Amyotrophic Lateral Sclerosis (ALS), Post-Polio Syndrome (@DISEASE$), Guillain-Barre Syndrome, Immune Neuropathy, Charcot-Marie-Tooth Disease, Myasthenia Gravis (MG), Metabolic Myopathy, Mitochondrial Myopathy, Muscular Dystrophy, Facioscapulohumeral Dystrophy, Myotonic Dystrophy.	false
+07c094367756c1893876f5ded908364181c08f1f	Poor sleep quality is associated with fatigue and, therefore, @PHENOTYPICFEATURE$ should be evaluated and treated in this group of @DISEASE$.	false
+f07557372460f158142e403799bbc27f99c07ffa	The main post-polio syndrome (@DISEASE$) symptoms are new-onset weakness, new-onset atrophy, fatigue, cold intolerance, and pain associated with @PHENOTYPICFEATURE$.	false
+807b2c9d0aef3a4380563e1128befad44c41cce7	In patients with @DISEASE$, we identified three patterns of @PHENOTYPICFEATURE$--obstructive sleep apnea, hypoventilation, and a combination of both.	false
+7364ec815abfa28051d28432010ad9efbd63aba9	The results support the model and document how nocturia and @PHENOTYPICFEATURE$ negatively impact persons with @DISEASE$.	false
+e618386fe4446f95194f937434b5f173954bd4d1	The main post-polio syndrome (@DISEASE$) symptoms are new weakness, new atrophy, fatigue, pain and @PHENOTYPICFEATURE$.	false
+cf36c6929edce7fe09f35e93875056e8551366b3	Factors that significantly predicted responses were Palliative Performance Scale (@DISEASE$)?>?40 and absence of @PHENOTYPICFEATURE$.	false
+02244c8ddb99b213c018a51c4c169138ff0f2ec5	The purpose of this study was to determine if NO blood concentrations increased acutely following an 8-week course of pulsed infrared light therapy (PILT) which could be linked to an improvement in peripheral protective sensation (@DISEASE$) in patients who have profound chronic diabetic @PHENOTYPICFEATURE$.	false
+26b621c79d3a8548be4ac7b3f87456318632694b	Radiographs revealed bilateral @DISEASE$ hypoplasia (hemimelia), generalised cardiomegaly, and pelvic limb @PHENOTYPICFEATURE$.	false
+52df0d4401f41e144f70eb2f6238778ab579b5e1	This paper presents two cases of @DISEASE$ deficiency and thumb aplasia associated with @PHENOTYPICFEATURE$ of the homolateral foot and a supernumerary toe resembling a thumb.	false
+6f2b72cd1f4f6ee8ac891c31c67cd3290b7d3614	Our patient had the characteristics of the syndrome: vertebral defects, @PHENOTYPICFEATURE$, cardiac anomalies, tracheal stenosis and @DISEASE$ dysplasia.	false
+46615eaeaaa032aaa59f5bbf8b17066de84a35b1	VACTERL association is an acronym made of associated defects including vertebral anomalies, @PHENOTYPICFEATURE$, cardiac, tracheal-esophageal fistula, and renal/@DISEASE$ limb anomalies.	false
+ebc74d9594be0b841ca256346ca5e42d4b4f5240	While @PHENOTYPICFEATURE$ was not so common in our patients, cardiac anomalies and @DISEASE$ limb dysplasia occurred somewhat more frequently.	false
+8fb228910588c9d4505cf983eeb354e47ffb65cc	We also compare its characteristics with those of the vertebral defects, @PHENOTYPICFEATURE$, tracheo-oesophageal fistula, renal defects and @DISEASE$ dysplasia (VATER) association.	false
+d45f6de0f551eeb41eb93bb8a191f9eaf43174e3	Since some major features of the VACTERL association, including conotruncal heart defect, @DISEASE$ aplasia, and @PHENOTYPICFEATURE$, have been found in patients with microdeletion 22q11.2	false
+4e9eca9aee81318497b0431ff90967198143cf3a	A 63-mm human fetus with @DISEASE$ aplasia, tibial @PHENOTYPICFEATURE$, rib and vertebral fusions, and right aortic arch.	false
+9a97a406be5a4ebbbff6f29c6f053abf78561782	The anomaly distribution was: thumb hypoplasia and radial dysplasia (n = 29), thumb hypoplasia (n = 26), radial polydactyly (n = 12), radial @PHENOTYPICFEATURE$ and radial dysplasia (n = 1), and proximally placed thumb and @DISEASE$ dysplasia (n = 1).	false
+3b0e5cfa997daef7d76baf4f0c2e98cbb17e756c	The anomaly distribution was: thumb hypoplasia and radial dysplasia (n = 29), thumb hypoplasia (n = 26), radial polydactyly (n = 12), radial @PHENOTYPICFEATURE$ and @DISEASE$ dysplasia (n = 1), and proximally placed thumb and radial dysplasia (n = 1).	false
+a91bd8a1b8b4be9606da00455d7af7b8f2d822c2	The anomaly distribution was: thumb hypoplasia and @DISEASE$ dysplasia (n = 29), thumb hypoplasia (n = 26), radial @PHENOTYPICFEATURE$ (n = 12), radial polydactyly and radial dysplasia (n = 1), and proximally placed thumb and radial dysplasia (n = 1).	false
+15e58a2000e23534c8d24a50c3157c0c5c7ce579	The anomaly distribution was: thumb hypoplasia and @DISEASE$ dysplasia (n = 29), thumb hypoplasia (n = 26), radial polydactyly (n = 12), radial @PHENOTYPICFEATURE$ and radial dysplasia (n = 1), and proximally placed thumb and radial dysplasia (n = 1).	false
+1ee00c65881c82097822101741f36095daa10a31	The anomaly distribution was: thumb hypoplasia and radial dysplasia (n = 29), thumb hypoplasia (n = 26), radial @PHENOTYPICFEATURE$ (n = 12), radial polydactyly and @DISEASE$ dysplasia (n = 1), and proximally placed thumb and radial dysplasia (n = 1).	false
+ba13082f816f66b1b51c8b8099ab86d566be28b0	The anomaly distribution was: thumb hypoplasia and radial dysplasia (n = 29), thumb hypoplasia (n = 26), radial @PHENOTYPICFEATURE$ (n = 12), radial polydactyly and radial dysplasia (n = 1), and proximally placed thumb and @DISEASE$ dysplasia (n = 1).	false
+ed2ef1260fb126bc71052e2cb4e1a1e0681ef651	@PHENOTYPICFEATURE$, thumb duplication, syndactyly and @DISEASE$ aplasia, are already evident at birth and newborns are promptly referred to specialized departments.	false
+ee75c02a9ecb9ae59602fbdb1ba5f689270eca46	Serum levels of IL-6 were correlated with @PHENOTYPICFEATURE$ burden in @DISEASE$ patients.	false
+04707e76a93413497956477511874fc0d5034046	These results suggest that E-NPP3 is involved in the infiltration of neoplastic @DISEASE$ and is possible to be a @PHENOTYPICFEATURE$ marker.	false
+53742056bdf8013656a718afbac1e608a22bbbf9	The @DISEASE$ @PHENOTYPICFEATURE$ cells displayed strong positivity for keratins, 5, 8 and 18 but did not react with the anti-keratin 10 antibody.	false
+b2cb056c94d7360fd10157eb26bdb3ac4adb0b1b	We report a case of a female patient with @DISEASE$ who presented, 8 yr after initial diagnosis, with pancytopenia, @PHENOTYPICFEATURE$, and myalgia.	false
+a88cf4a110aecdb7f0be586865446f9903af1783	The authors describe a young man with known @DISEASE$ who sought medical attention after a first episode of @PHENOTYPICFEATURE$.	false
+efb0d1c118382ff98e4310f8a5d8931228ca3dcc	A 40-year-old man with @DISEASE$ presented with @PHENOTYPICFEATURE$ and encephalopathy.	false
+f068dd52a3e4220078187bd75c7c1b1bc1e3d1c2	A 51-year-old male @DISEASE$ patient with progressive hearing loss, confusion, @PHENOTYPICFEATURE$, and aphasia during imatinib treatment.	false
+c65c4d55b7d75a3ae0598fe49a07bc3a4b91fe20	Retrospective analysis of feeding and @PHENOTYPICFEATURE$ in 50 patients with velo-cardio-@DISEASE$.	false
+85e572cefebfe40e935b0cfb17ea4652f9d10cb7	The sign was detected in 67.9% of the patients with hemifacial spasm, in 23.5% of the post-paralytic @DISEASE$ group and in none of the patients with blepharospasm, exhibiting a sensitivity of 51% and a specificity of 100% for the diagnosis of hemifacial spasm/post-@PHENOTYPICFEATURE$ facial syndrome and a specificity of 76% for hemifacial spasm, compared to post-paralytic facial syndrome.	false
+c449c03abc5039f4fe22f88f71ba8f60d9d61413	The sign was detected in 67.9% of the patients with hemifacial spasm, in 23.5% of the post-paralytic facial syndrome group and in none of the patients with blepharospasm, exhibiting a sensitivity of 51% and a specificity of 100% for the diagnosis of hemifacial spasm/post-@PHENOTYPICFEATURE$ @DISEASE$ and a specificity of 76% for hemifacial spasm, compared to post-paralytic facial syndrome.	false
+d2ab7f4c9df1d6bc163bdb90fd65a76849b6c8e8	The sign was detected in 67.9% of the patients with hemifacial spasm, in 23.5% of the post-paralytic facial syndrome group and in none of the patients with blepharospasm, exhibiting a sensitivity of 51% and a specificity of 100% for the diagnosis of hemifacial spasm/post-@PHENOTYPICFEATURE$ facial syndrome and a specificity of 76% for hemifacial spasm, compared to post-paralytic @DISEASE$.	false
+273492a0db40924bf0946874a4e1b73d3e49b08d	Our results suggest that muscle MRI is a powerful predictor of RYR1 involvement in patients with a @DISEASE$, especially if they carry a dominant @PHENOTYPICFEATURE$ or recessive mutations without ophthalmoparesis.	false
+7a36804614357c70c351ba80df25caec726c12eb	The clinical features of the presented case, manifested by the onset of the disease in early childhood, delayed motor development, @PHENOTYPICFEATURE$, lordosis and joint contractures were suggestive of @DISEASE$.	false
+7148a3338e2a19bfdda6e2c592aad619c105f462	Diseases with pulmonary and cutaneous manifestations can be divided into four major categories: (a) congenital and developmental disorders with cutaneous-pulmonary manifestations (Ehlers-Danlos syndrome, generalized elastolysis, yellow nail syndrome, neurofibromatosis, @DISEASE$); (b) primary dermal diseases with associated pulmonary manifestations (septic vasculitis, malignant melanoma, Kaposi sarcoma); (c) primary pulmonary diseases with associated cutaneous manifestations (tuberculosis, Pseudomonas @PHENOTYPICFEATURE$, mycoplasmal pneumonia, adenocarcinoma, metastasis); and (d) cutaneous-pulmonary conditions (multisystem disorders) (progressive systemic sclerosis, systemic lupus erythematosus, Wegener granulomatosis, sarcoidosis).	false
+c8c14470f9f888765a19b6678bb713ae0f1fe233	Over an 18-month period, 193 patients were evaluated with WCE for suspected SB diseases [108 obscure gastrointestinal (GI) bleeding, 32 chronic diarrhea, 22 suspected and 6 diagnosed Crohn's disease, 16 @PHENOTYPICFEATURE$, 4 refractory celiac disease, 3 polyposis syndromes, 1 @DISEASE$ and 1 Behcet disease].	false
+af410ecf545a445be8e46901168411b2546efed8	Papillary @DISEASE$ is an extremely rare @PHENOTYPICFEATURE$ usually with a poor outcome.	false
+9814baf558d6a82e8286eeba5f6be2e15f1de5c5	The @PHENOTYPICFEATURE$ was classified as a @DISEASE$.	false
+73c184bb6dd85e0a31a16123002eeb95add1c0f6	Histological examination of the removed @PHENOTYPICFEATURE$ disclosed that it was a "true" @DISEASE$.	false
+265fbae08015fd152092145478a7c5c492e6a103	The @PHENOTYPICFEATURE$ was diagnosed as a @DISEASE$ with neuronal differentiation.	false
+8a011f5c3c74fc937fa572a7dd99209abb211711	One patient (one @PHENOTYPICFEATURE$) with @DISEASE$ was lost to follow-up.	false
+1abaae5567a61755eeb72ca60b7ab87cdbf4d48b	Pineal parenchymal tumours: I. @DISEASE$: a @PHENOTYPICFEATURE$ responsive to platinum-based chemotherapy.	false
+40fa991997a15718833679807a9d1040e2934833	[Spinal leptomeningeal @PHENOTYPICFEATURE$ spread disclosing a @DISEASE$].	false
+ce965639970507f9d5913d7a22a5df6b59c2626f	The pathological diagnosis of the @PHENOTYPICFEATURE$ was mixed @DISEASE$/pineoblastoma.	false
+742470757748fe1a818078ad3fe89e14d24d56b4	Considering the typical radiological and pathologic presentation, the @PHENOTYPICFEATURE$ was first diagnosed as @DISEASE$.	false
+3eaaf753744dc966b8b55f86632d2e4203cdb935	The @PHENOTYPICFEATURE$ was totally removed and was pathologically diagnosed as @DISEASE$.	false
+a9fa667cf3a8d02a5efc570649590d0dd2f88934	Carbonic anhydrase II (@DISEASE$) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, @PHENOTYPICFEATURE$, and mental retardation.	false
+f5114f3d9aa86656cc5a106292d507be2231375d	After excluding those with baseline heart failure, the incident risk of @PHENOTYPICFEATURE$ was attenuated for those with @DISEASE$ greater than or equal to five (HR, 1.57; 95% CI, 0.92-2.66)	false
+1dc3f5bb8c537321095616c0a44820347c07004f	After excluding those with baseline @PHENOTYPICFEATURE$, the incident risk of heart failure was attenuated for those with @DISEASE$ greater than or equal to five (HR, 1.57; 95% CI, 0.92-2.66)	false
+d3d10f6f50239215426ee1a412e27ae5933e114d	To evaluate whether central adrenal insufficiency (@DISEASE$) is present in CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear abnormalities, including @PHENOTYPICFEATURE$) syndrome, a complex malformation disorder that includes central endocrine dysfunction.	false
+268ca2ad56aeb97c11cebe41ef8e6d4c6f29377e	To evaluate whether central adrenal insufficiency (@DISEASE$) is present in CHARGE (Coloboma of the eye, @PHENOTYPICFEATURE$, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear abnormalities, including deafness) syndrome, a complex malformation disorder that includes central endocrine dysfunction.	false
+9a16a8f20090490f3ba433a9b5a34343b3990e0a	In patients with @PHENOTYPICFEATURE$, CAI was lower according to the dose of beta-blockers, and no use of beta-blockers was independently associated with @DISEASE$.	false
+543f4839b7a79338f96f0433f477da0650e2d0e1	Mean BMI (24.2 +/- 7.4 kg/m(2)) was not significantly increased (T-score 1.0 +/- 2.5, p = NS vs Italian female reference values), but prevalence of @PHENOTYPICFEATURE$ was higher in women with @DISEASE$ than that reported in age-related Italian females (16.7% vs 3.6%, respectively).	false
+b8dc2a05eac2003485c0723c4a54a3b9f52cf407	Nevertheless, some of the reversible abnormalities may secondarily amplify the morbidity associated with obesity: the @PHENOTYPICFEATURE$ may be related to the increased risk of hypertension, hyperlipidemia, coronary disease, and Type II diabetes; the elevated levels of free estradiol in obese women may be related to their increased risk of breast and @DISEASE$.	false
+863af4ea67935b2e0e73f60502f28cbdc6739aed	Our findings raise the possibility of a diabetes-related condition, such as @PHENOTYPICFEATURE$ or hyperinsulinemia, contributing to poorer @DISEASE$ survival.	false
+8992dd14b1a2cfb583d794078351c07729e80b32	Our findings raise the possibility of a diabetes-related condition, such as hyperglycemia or @PHENOTYPICFEATURE$, contributing to poorer @DISEASE$ survival.	false
+a69d19254daafb648400a43f8ba0c128c8d39ccc	Markers of insulin resistance such as the adiponectin:leptin ratio (A:L) and the homeostasis model assessment ratio (HOMA-IR) are associated with obesity and @PHENOTYPICFEATURE$, both established risk factors for @DISEASE$, and may therefore be informative regarding endometrial cancer risk.	false
+ec2e11eb1bc5576def5ba2cd617116821e7cdf70	Markers of insulin resistance such as the adiponectin:leptin ratio (A:L) and the homeostasis model assessment ratio (HOMA-IR) are associated with obesity and @PHENOTYPICFEATURE$, both established risk factors for endometrial cancer, and may therefore be informative regarding @DISEASE$ risk.	false
+58b8caeb8d99aee042f822a3a510be1f560df6be	Chronic @PHENOTYPICFEATURE$, as reflected by increased circulating C-peptide, is associated with increased @DISEASE$ risk.	false
+32feb213cef7b8dbd22e16d3b25b2a5201c0c3b4	The health and economic burden of obesity was estimated for a hypothetical health plan with 1 million members between the ages of 35 and 84 years, based on projections of the numbers of cases of 8 diseases for which obesity is an established risk factor (coronary heart disease, @PHENOTYPICFEATURE$, hypercholesterolemia, gallbladder disease, stroke, type 2 diabetes, osteoarthritis of the knee, and @DISEASE$), obesity-attributable "etiologic fractions," and estimates of associated medical care costs.	false
+9057cd69763c92eefeba651654d9a6e8c234a665	The health and economic burden of obesity was estimated for a hypothetical health plan with 1 million members between the ages of 35 and 84 years, based on projections of the numbers of cases of 8 diseases for which obesity is an established risk factor (coronary heart disease, hypertension, @PHENOTYPICFEATURE$, gallbladder disease, stroke, type 2 diabetes, osteoarthritis of the knee, and @DISEASE$), obesity-attributable "etiologic fractions," and estimates of associated medical care costs.	false
+0704d8af1af211dac430ced123b2f7173662d9ff	Health insurance expenditures constituted $7.7 billion of the total amount, representing 43% of all spending by U.S. business on coronary heart disease, hypertension, type 2 diabetes, @PHENOTYPICFEATURE$, stroke, gallbladder disease, osteoarthritis of the knee, and @DISEASE$.	false
+cc720090077e7ce6127e9df344fe84933b7e3373	A comprehensive, formal literature review was conducted for tamoxifen and raloxifene on the following topics: breast cancer risk reduction; tamoxifen side effects and toxicity, including @DISEASE$ risk; tamoxifen influences on nonmalignant diseases, including coronary heart disease and @PHENOTYPICFEATURE$; and decision making by women at risk for breast cancer.	false
+d5b16604286fe4667881b11d646cfe2d61d68637	These findings are discussed in the light of comparisons to the @DISEASE$ hamster @PHENOTYPICFEATURE$ system in which tumor cell or transformed cell revertants can lose the integrated Ad12 DNA sequences, but retain the oncogenic phenotype, when reinjected into hamsters.	false
+210c6ba8c37efe395dd658fcdff80af4fc32055a	These findings are discussed in the light of comparisons to the @DISEASE$ hamster tumor system in which @PHENOTYPICFEATURE$ cell or transformed cell revertants can lose the integrated Ad12 DNA sequences, but retain the oncogenic phenotype, when reinjected into hamsters.	false
+36851301b402249de20f57841eb8c4d3ca222ee3	Since the interaction of Ad12 with hamster cells must constitute a significant factor in the induction of @DISEASE$ @PHENOTYPICFEATURE$ in neonatal hamsters, we have continued to examine details of this abortive virus infection.	false
+a9272189179fa301e21deafab9c582ccb38900b8	Primary @DISEASE$ @PHENOTYPICFEATURE$ was also induced in adult CBA, C3H/He, and DDD mice by 4 X 10(5 to 6) 50% tissue culture infective dose of Ad12 with 5 X 10(6) syngeneic embryo cells.	false
+9894abe0f9a56f575caf0d4648052e9842577914	Ad12 plus SV40 (108TCD50) or Ad12 plus @DISEASE$ @PHENOTYPICFEATURE$ killed 78% of newborn monkeys (7 of 9) in 18 days.	false
+a8330e721237eec2bcaa0a18a89fc037570a2636	Ad12 plus SV40 (108TCD50) or @DISEASE$ plus Ad12 @PHENOTYPICFEATURE$ killed 78% of newborn monkeys (7 of 9) in 18 days.	false
+d373417271814ea736fd6d1f671a262b406f8a9e	These results clearly indicate that T-lymphocytes, particularly those bearing Lyt-2.2 antigen, are the principal effectors in ISC against @DISEASE$ @PHENOTYPICFEATURE$ in animals.	false
+ed9cbe2ba105a46f6732ee14d087d3dfd2dd634f	Effector cells working for rejection of @DISEASE$ @PHENOTYPICFEATURE$ in mice.	false
+e6394b8db7b5c1abbf131be1da4c483146ff6645	Addition of recombinant murine interferon gamma strongly stimulated expression of class I antigens in the Ad12 transformants as well as in cells from the @DISEASE$ @PHENOTYPICFEATURE$.	false
+dab0e7a93fba62e05e4bd98015bbce181b3b966f	It has been demonstrated that tumours do not appear after subcutaneous transplantation of small amounts (10(2), 2 X 10(2] of @DISEASE$ sarcoma cells to intact hamsters, whereas @PHENOTYPICFEATURE$ do appear in 53-72% of hamsters inoculated with starch suspension prior to transplantation of the same amounts of tumour cells (tumour growth stimulation phenomenon).	false
+a38130b8eae672f85c97cfd9588b10ce9d60e9f8	It has been demonstrated that tumours do not appear after subcutaneous transplantation of small amounts (10(2), 2 X 10(2] of @DISEASE$ sarcoma cells to intact hamsters, whereas tumours do appear in 53-72% of hamsters inoculated with starch suspension prior to transplantation of the same amounts of @PHENOTYPICFEATURE$ cells (tumour growth stimulation phenomenon).	false
+8d9eb4f3b5c80779fe3269db9e90ee962ce7e8f8	It has been demonstrated that @PHENOTYPICFEATURE$ do not appear after subcutaneous transplantation of small amounts (10(2), 2 X 10(2] of @DISEASE$ sarcoma cells to intact hamsters, whereas tumours do appear in 53-72% of hamsters inoculated with starch suspension prior to transplantation of the same amounts of tumour cells (tumour growth stimulation phenomenon).	false
+55c7346b1ea0bf20c8f62d6e5f8950abcc77f639	It has been demonstrated that tumours do not appear after subcutaneous transplantation of small amounts (10(2), 2 X 10(2] of @DISEASE$ sarcoma cells to intact hamsters, whereas tumours do appear in 53-72% of hamsters inoculated with starch suspension prior to transplantation of the same amounts of tumour cells (@PHENOTYPICFEATURE$ growth stimulation phenomenon).	false
+e3cb667ba77081c04aa0cf55c55af92d8816c328	For @DISEASE$ @PHENOTYPICFEATURE$ induction in hamsters, the patterns of Ad12 viral and cellular gene expression were important and were affected by changes in DNA methylation, both in the integrated Ad12 DNA and the cellular genome.	false
+56dd1e48b5ed1848ab614fa85c68e6d9a2c2465d	The 2 viruses that carry the 5' E1A terminus of the first exon of Ad12 and the second exon of Ad5 (H5sub1101 and H5sub1102) are thus effective in inducing immunity against @DISEASE$ @PHENOTYPICFEATURE$ as well as against Ad2 tumors.	false
+1d25deab6122dcf84f581cdfc5c10e20851d523f	The 2 viruses that carry the 5' E1A terminus of the first exon of Ad12 and the second exon of Ad5 (H5sub1101 and H5sub1102) are thus effective in inducing immunity against @DISEASE$ tumors as well as against Ad2 @PHENOTYPICFEATURE$.	false
+85c810453d2399ecce78bb801cce59f7697aa046	Differences from the @DISEASE$ include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and @PHENOTYPICFEATURE$.	false
+b7ce71f85409d9ee0621f1a85b7e7e03482112c7	Its use has allowed the identification of normal facies in many of the 800 cases included in this study and also the identification of the @PHENOTYPICFEATURE$ characteristics of triploidy, cyclopia, anencephaly, @DISEASE$, trisomy 18, and nuchal cysts syndrome.	false
+ec8f0cf44c7cce530cf309bfb38782cd8178d98d	We present a 40-year-old man with mental retardation, @PHENOTYPICFEATURE$, minor anomalies, and seizures, who was found to have osteopoikilosis with @DISEASE$ (mixed sclerosing bone dysplasia, MSBD).	false
+3b2e7cadf1c9ea3e8aecc895ebba8d5f957aae04	We studied an unusual combination of @PHENOTYPICFEATURE$, mesomelia (@DISEASE$ syndrome), and multiple exostosis in several family subjects over three generations.	false
+bb2bed755230c641b6a70d30e91bc812faadf617	Corrections of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+1ef320e9be950b95bd9eb3f804fc30d28660f8d5	Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., @DISEASE$, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and @PHENOTYPICFEATURE$ in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 cognitive impairment, and 4 died.	false
+a77ef021fd2bdeb3f1b355cf3961f1cfd4b7cb71	A novel TNNI2 mutation causes @DISEASE$ in a Chinese family with an affected adult with only facial @PHENOTYPICFEATURE$.	false
+2a7a12d70f115732f573c2ffdba78e043f4bd6e5	Freeman-Sheldon syndrome, or @DISEASE$, is a rare congenital myopathy and dysplasia characterised by multiple @PHENOTYPICFEATURE$, abnormalities of the head and face, defective development of the hands and feet and skeletal malformations.	false
+9260ff929436e80d2f69909b310c4c3fb0ea2cdc	@DISEASE$, or distal arthrogryposis type 2A, is a rare congenital myopathy and dysplasia characterised by multiple @PHENOTYPICFEATURE$, abnormalities of the head and face, defective development of the hands and feet and skeletal malformations.	false
+d3ff30b2e2ba4ec4664b8757487993884e24ca3b	Laryngomalacia, choanal atresia and @PHENOTYPICFEATURE$ in a newborn with @DISEASE$ phenotype.	false
+5a7988ce2ab5a016c3cc40f2dfd1796c5c2205a5	Clinical features of the @DISEASE$ include @PHENOTYPICFEATURE$ and characteristic facial features, including microstomia and a whistling shape to the lips.	false
+e613b9752ee62d84432d7f89d393f7872efaa400	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, @DISEASE$, and craniocarpotarsal dysplasia and classified at different times as a @PHENOTYPICFEATURE$, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis.	false
+34f9f07da4d64e9faea9c5758e82714f1a0aa8e0	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed @DISEASE$, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a @PHENOTYPICFEATURE$, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis.	false
+473dd38afc4295b499053ae5fc18ce6481fd85ea	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and @DISEASE$ and classified at different times as a @PHENOTYPICFEATURE$, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis.	false
+66207665dea91e9aa0157f44ab5ddd1b02662b20	While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as @DISEASE$ (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a @PHENOTYPICFEATURE$, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis.	false
+f37cb4fa77ec2b4e82813c05842993657e1d192e	Using Drosophila melanogaster, we created the first animal models for myosin-based @DISEASE$ (FSS), a dominant form of distal arthrogryposis defined by congenital facial and distal skeletal muscle @PHENOTYPICFEATURE$.	false
+744a025570e93dbea6b5f07e60d7382c7a3f73c2	@DISEASE$ (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and @PHENOTYPICFEATURE$ with characteristic facies.	false
+02a1f9991e6884f85e6a992312929000d0bd8385	@DISEASE$ (FSS) or "whistling face" syndrome is a rare congenital disorder complicated by characteristic facial deformities and muscular @PHENOTYPICFEATURE$.	false
+356c6f08f791d50e63acfe91b3aa604abe4f9556	The remaining eight propositi were recognized to have previously described conditions with distal @PHENOTYPICFEATURE$ and autosomal dominant inheritance, ie, the @DISEASE$, trismus-pseudo-camptodactyly syndrome, congenital contractural arachnodactyly, and familial camptodactyly.	false
+d570c75a45a959ae63f50dfe064082ba69c7fa43	We describe a child with whistling face and multiple @PHENOTYPICFEATURE$, including ulnar deviation of fingers, compatible with a diagnosis of @DISEASE$ (FSS).	false
+16faa650857249d28f4893825e7fc340765b6c8c	Cutaneous innervation and trigeminal pathway function in a patient with facial @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+d180eaf91e6e25e8a4fc97f3ded008e99849a410	The authors describe four patients with @DISEASE$ (PRS) who had @PHENOTYPICFEATURE$, ptosis, and facial hemiatrophy.	false
+176f9f14b11866f5bb38516531cfeb2e4fb1940c	The authors describe four patients with Parry-Romberg syndrome (PRS) who had @PHENOTYPICFEATURE$, ptosis, and @DISEASE$.	false
+b1dfed3c9cc9a07c63996ca03b0f9edbe7db7fbf	To report a case of @DISEASE$ with unusual features of contralateral @PHENOTYPICFEATURE$ and transcranial Doppler ultrasound evidence of autonomic dysfunction.	false
+4d19a21f224fcbc1fe87178b49f49bd209d15be8	[A syndrome of @DISEASE$, circumscribed scleroderma and focal epileptic seizures associated with bilateral @PHENOTYPICFEATURE$].	false
+ded7981261e148a2b7f0cb18f8813518a78ebb95	@DISEASE$ associated with chronic facial @PHENOTYPICFEATURE$.	false
+e3e94f25a8727a7b38c88553d8c7683c1106c6f6	Ocular manifestations of @DISEASE$ are varied, but can progress from mild @PHENOTYPICFEATURE$ to blindness.	false
+14c34b63d4003149d209967c3525b154497fff58	This case expands the spectrum of findings in progressive facial hemiatrophy to include contralateral @PHENOTYPICFEATURE$ and suggests that sympathetic dysfunction might play a pathogenic role in @DISEASE$.	false
+910192df12b3f6032096a6576d7c9243769d904d	This case expands the spectrum of findings in @DISEASE$ to include contralateral @PHENOTYPICFEATURE$ and suggests that sympathetic dysfunction might play a pathogenic role in progressive facial hemiatrophy.	false
+792a8aaa4d9f8e5bc59fc31be71a084c03d21f39	We describe a novel case of a 42-year-old woman with @DISEASE$ and bilateral @PHENOTYPICFEATURE$ consistent with retinitis pigmentosa.	false
+871ae9a018ec1a337779e8a1d5d21956f8fb05bc	[Corectopia, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+254b42b210a6550252e3a23447c67c48113bae49	To describe the somatosensory phenotype of a previously unreported patient with @DISEASE$ and facial @PHENOTYPICFEATURE$.	false
+ddf96dc8f0d0512c1a46e7d3bf153023d8d93468	@DISEASE$ is a rare cause of adult @PHENOTYPICFEATURE$.	false
+160291df7c10437da3edf2102c8cb1abc44d23da	Pancreatic tissue from a case of neonatal @PHENOTYPICFEATURE$ with @DISEASE$ has been studied by routine light and electron microscope techniques and by highly sensitive light and electron microscope immunolocalization methods.	false
+06afbb3e12c3027875a024ded15ffe2cea8d6f2e	Congenital anomalies (such as annular pancreas) and endocrine disorders (such as hyperinsulinism of @DISEASE$ or @PHENOTYPICFEATURE$ of neonatal diabetes mellitus) present many challenges to the personnel caring for these infants and their families.	false
+24d3e87b41ab4e9c4ddb4e0309a52de58de5cb0f	Persistent @PHENOTYPICFEATURE$ is caused by @DISEASE$ of the pancreas, a diffuse pancreatic endocrine abnormality involving all the endocrine tissue, or by an islet cell adenoma.	false
+73251ae16ba6ab4800c7a498c02bd34e64348137	@DISEASE$ is a rare cause of non insulinoma pancreatogenous @PHENOTYPICFEATURE$ syndrome seen in adults.	false
+ee0f529f2bbb0eff38ab9bf91e6c21ec60afba71	The recently described molecular mechanisms that underlie the pathogenesis of abnormal insulin secretion in the syndrome of persistent hyperinsulinaemic @PHENOTYPICFEATURE$ of infancy (or pancreatic @DISEASE$) may offer insights into how such programming may occur.	false
+700d5dca5e859ad6ad5bb054585997a6d153b5ba	@DISEASE$ in adults has been reintroduced into the differential diagnosis of organic hyperinsulinism by the description of 'noninsulinoma pancreatogenous @PHENOTYPICFEATURE$ syndrome (NIPHS)'.	false
+7be97dfc6bab272d8ce3f597cabdf6757fbb99ae	Ocular anomalies, corpus callosum agenesis, heart defects, @PHENOTYPICFEATURE$, and diaphragmatic hernia may be part of the phenotypic spectrum of @DISEASE$.	false
+46244e2f27b4d5c04d6646dedb6a855a28e48780	Ocular anomalies, corpus callosum agenesis, @PHENOTYPICFEATURE$, kidney malformations, and diaphragmatic hernia may be part of the phenotypic spectrum of @DISEASE$.	false
+a7c34c2742e8fadef9cad0797970e08e8565f7b7	Carbamazepine is used to treat partial and @PHENOTYPICFEATURE$, @DISEASE$, and bipolar illness.	false
+d3158561ca4953ae8c810d2044125c449b337605	Carbamazepine, a widely used antiepileptic drug that has been used for the treatment of both partial and @PHENOTYPICFEATURE$, for @DISEASE$, as a mood stabilizer and for treatment of neuropathic pain syndromes, may have negative chronotropic and dromotropic effects on the cardiac conduction system.	false
+bd30054b087d8ea4ffd93c093a5e7f2259e749dd	Presence of the complete or incomplete pterygospinous bar may lead to a difficulty in passing the needle during anaesthesia for the @DISEASE$ or the bar may also compress the mandibular nerve and its branches to cause lingual numbness, pain and @PHENOTYPICFEATURE$.	false
+e5b2789a68d7e114e2771c679a7dc7b43abbf8ae	We report the seventh case of Mulvihill-Smith @DISEASE$-like syndrome in a 5-year-old boy with a thin, pinched face, @PHENOTYPICFEATURE$, and cutaneous pigmented nevi.	false
+231304285ad22a938525047ca40da972149e8a17	The presence of a Peters' anomaly, mental retardation, @PHENOTYPICFEATURE$, skeletal abnormalities and distinctive facial features (broad forehead, @DISEASE$, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome.	false
+0c95907ef397338867b1986876d1fe1d961d5ee5	These findings indicate that skeletal and metabolic impairment in @DISEASE$ may be more significant than previously thought and that uncoupling lipid uptake from lipid metabolism in BAT may represent a novel approach to controlling WAT mass in @PHENOTYPICFEATURE$.	false
+0a7c573b63a7721521023bec693b7043f23d0602	We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), @PHENOTYPICFEATURE$-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and @DISEASE$ and DOA with cataract (mutations in OPA3).	false
+13e380f258115dc4df7b4fdd8d2cf76de3125de5	We report the case of a 62-year-old Chinese man who presented with a two-month history of @PHENOTYPICFEATURE$ of face and neck, together with erythema of the eyelids diagnosed of @DISEASE$.	false
+6c099e272a9ff3256b8b46e236fb7447cd241b97	Overall, 39 glycoproteins were identified in LIM1215 culture media (CCM) and 5 glycoproteins in @DISEASE$1215 @PHENOTYPICFEATURE$ xenograft Tif; of these, cadherin-17 (CDH17), galectin-3 binding protein (LGALS3BP), and tyrosine-protein kinase-like 7 (PTK7) were identified in both CM and glycosylation motifs.	false
+de9d9b9735a7835fa2d8769932cab365f1992140	Neither the longitudinal/transverse/mixed nor @DISEASE$/OCV classifications were predictors of @PHENOTYPICFEATURE$ (SNHL), CHL, or FN involvement by Fisher exact statistical analysis (for SNHL: P = 0.37 vs 0.16; for CHL: P = 0.71 vs 0.33; for FN: P = 0.62 vs 0.94, respectively).	false
+e7cfdcb98178b9328a6fe568e2781c421e93c266	The purpose of this study was to investigate the efficacy of otic capsule-sparing (OCS) length for the prediction of @PHENOTYPICFEATURE$ (SNHL) in patients with @DISEASE$ temporal bone fracture.	false
+75969cb3b4f71434515ff40b23124654de5acea4	The purpose of this study was to investigate the efficacy of otic capsule-sparing (@DISEASE$) length for the prediction of @PHENOTYPICFEATURE$ (SNHL) in patients with OCS temporal bone fracture.	false
+c813c1f0acc2e5017a5a17f48b931a6f97839724	Patients aged 60 years or younger with high oral corticosteroid (@DISEASE$) exposure had greater odds of osteopenia, osteoporosis, glaucoma, dyspeptic disorders, chronic kidney disease, cardiovascular disease, @PHENOTYPICFEATURE$, hypertension, and obesity (P < .01)	false
+04baa1a54924bc6829fb5a6dfb138d40c5364036	Thus, the @DISEASE$ workers had a lower occurrence of @PHENOTYPICFEATURE$ development and a less intensity in changes of the lens as compared to the similar parameters registered in the OHS workers.	false
+75ad28b007b7e089e7066677b1535bb75e9427cf	@DISEASE$b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+2b43e2c168bad141da88a43c2ac9f1211dc4186c	@DISEASE$B is a combined deaf-@PHENOTYPICFEATURE$ condition caused by mutations in the MYO7A gene.	false
+a26bd2463336ae26c390faaac45957d855433e46	Recently, mutations in the gene for an unconventional myosin, myosin-VIIa, were found to be the basis for the deafness and vestibular dysfunction observed in shaker-1 (sh1) mice and for a human deafness-@PHENOTYPICFEATURE$ syndrome, @DISEASE$B.	false
+e6d936d25419dc7ad60519dc9eef96381b9056bb	It remains unclear whether uterine myomas and @DISEASE$ are causes of deep @PHENOTYPICFEATURE$.	false
+d4cbc2ea50437cb5388937dd8f919128131f2fd6	Retinal @PHENOTYPICFEATURE$ are associated with @DISEASE$.	false
+fd2cf017399ba1a1564d2c089834b597d406e01a	A 35-year-old man presented with @PHENOTYPICFEATURE$ of recent origin, 9 years following enucleation for @DISEASE$.	false
+b066be3940ca17e9aedb1d22a54f36be8d094ec0	Acute or chronic ocular @PHENOTYPICFEATURE$ is a classic but rare circumstance of @DISEASE$ diagnosis.	false
+f4f09d756e83c14725ac2bb826d1faf5a9e88b99	Recently, germ-line mutations in BAP1, the gene encoding a tumor suppressing deubiquitinating enzyme, have been associated with predisposition to a variety of cancers including uveal melanoma, but no studies have examined the association of germ-line mutations in GNAQ and GNA11 with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cdb99cf9c2e4de4692070d2055ffb1befbb0c7a2	Recently, germ-line mutations in BAP1, the gene encoding a tumor suppressing deubiquitinating enzyme, have been associated with predisposition to a variety of cancers including @DISEASE$, but no studies have examined the association of germ-line mutations in GNAQ and GNA11 with uveal melanoma and @PHENOTYPICFEATURE$.	false
+495fe0372f604cf8ef903f060b5728f285586e84	Patients with @DISEASE$ can develop psychological morbidity because of visual @PHENOTYPICFEATURE$, pain, facial deformity, and fears of metastatic disease.	false
+b8b3e253c02f687477a5882851b52e2c13fed15e	No de novo @PHENOTYPICFEATURE$ in ABCA12 has yet been reported either in HI or @DISEASE$.	false
+22377d7cd9f989f0aeeb8fad7d0d597e3e3479fb	TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, @PHENOTYPICFEATURE$, @DISEASE$ and gonadal malformations.	false
+ceed548df23ac85ff3d17e75ef130bd796c3ebd3	We present the case of a young woman with the following features: @DISEASE$, dwarfism, mental retardation, nail and dental abnormalities, @PHENOTYPICFEATURE$, poor sexual maturation, punctate cataracts, and hair shaft abnormalities.	false
+d7183192fe9c4ed13f8b050ca18ec34b2069b1a8	We hypothesized that hyperinsulinemia associated with @PHENOTYPICFEATURE$ would lead to reduced colon epithelial cell (@DISEASE$) apoptosis after radiation and that this effect would be altered by deletion of the insulin-like growth factor (IGF) 1 receptor (IGF1R) or the insulin receptor (IR).	false
+d4eaa762c6d3f0ccecc31752b4008a6578bcec19	Levels of @DISEASE$ are associated with the acute phase of @PHENOTYPICFEATURE$ and could be used as a marker of the worsening in heart failure.	false
+59029be69a02298429f89d5674cb1178f2ab71b7	In addition, consistent with the rare @DISEASE$, he had a right unilateral cleft lip and palate, @PHENOTYPICFEATURE$ in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency.	false
+370096a0870bf5a95cedd7421a00d6ea4769e84a	The authors report case of an 8-mo-old infant with @DISEASE$, who presented with @PHENOTYPICFEATURE$, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure and metabolic acidosis.	false
+b304f1199b754ad00e5ea4b8e2ee124ac93ea6bb	Initially, it was associated almost exclusively with alcoholic cirrhosis, but it has now been found in association with posthepatitic cirrhosis, @DISEASE$, chronic active liver disease, and, occasionally, in biliary cirrhosis and cardiac @PHENOTYPICFEATURE$.	false
+d5ddafe2884a07b10256b04a62bb2475fa05c302	The underlying diseases were viral hepatitis (n = 12), polycystic liver and kidney disease (n = 9), primary hyperoxaluria (n = 4), and @DISEASE$ (n = 2) with end-stage renal disease due to glomerulonephritis, diabetic nephropathy or @PHENOTYPICFEATURE$ caused by nephrotoxicity of immunosuppressive therapy after liver transplantation.	false
+d750bc30f52e382a0ae02a515d9f0ecca0043fce	P < 0.001), @DISEASE$ (4/12 vs. 10/120, chi 2 = 7.2, P < 0.01), or those with @PHENOTYPICFEATURE$ (6/22 vs. 10/110, chi 2 = 5.7, P < 0.05).	false
+d5952c9e2ae55f8e487ff41303f90bc20aa0f7af	We present an extraordinary case of a 71-year-old man 6 months status postorthotopic liver transplant secondary to end-stage liver disease from @DISEASE$, who presented to the liver clinic with a rapidly growing scalp @PHENOTYPICFEATURE$ and hypodense lesions within the liver.	false
+2bdf91bbdc136c23f39fd024659bfb058c8bb36b	@DISEASE$, cardiac @PHENOTYPICFEATURE$ and secondary biliary cirrhosis were more often diagnosed at post mortem.	false
+c37c2aa49d1c82334ed6bc51213a3227a866020f	Here, we report a case of 19-year-old girl who had both @DISEASE$ and idiopathic @PHENOTYPICFEATURE$ calcinosis.	false
+c68de87c6138263b092fc3c9512216626b4ef8f4	Using this definition 17 per cent of patients with alcoholic @PHENOTYPICFEATURE$ had hypersplenism, compared with 38 per cent with @DISEASE$ and 26 per cent with active chronic hepatitis.	false
+18ccfbeda7c8ee39b86b4d4414e5fc1d0d56d386	Patients with @DISEASE$ were less likely to have undergone HCC surveillance and had larger @PHENOTYPICFEATURE$ at diagnosis.	false
+e8bde641844a0e862bc6109df98f885a0fc7236b	Cases illustrate the concepts of overlapping aetiologies of steatohepatitis (hepatitis C, diabetes and lipodystrophy); the relationships between @DISEASE$, familial @PHENOTYPICFEATURE$, non-alcoholic fatty liver disease and hepatocellular carcinoma; familial hypobetalipoproteinaemia as an aetiology of steatohepatitis; and alcoholic liver disease in the obese.	false
+ebf495bed2c812bcb7bf991a9632c7186da969b1	Congenital lung malformations are a heterogeneous group of anomalies that involve the lungs and tracheobronchial tree (congenital airway pulmonary malformation, bronchial atresia, bronchogenic cyst, congenital lobar overinflation, pulmonary cyst, hamartoma, pulmonary isomerism and azygous lobe), @PHENOTYPICFEATURE$ (arteriovenous malformations, anomalous pulmonary venous return, pulmonary artery sling, interrupted pulmonary artery, pulmonary varix, pulmonary vein stenosis and pulmonary lymphangiectasia), or frequently both entities (pulmonary sequestration, pulmonary maldevelopment and @DISEASE$).	false
+3fb7a77817d71e8bdd9a659bd4b3542b5aef9fa8	To investigate the possible contribution of CAG expansions in the MSA phenotype, we analyzed the triplet repeat length in the autosomal dominant causative genes for spinocerebellar @PHENOTYPICFEATURE$ (SCA) type 1, 2, 3, 6, 7, 17, dentatorubral-pallidoluysian atrophy (DRPLA) and Huntington disease (HD) in a cohort of 246 Italian @DISEASE$ patients.	false
+ff249368b0a83cd3236281d414ede0f8d978e36d	The first evaluation was conducted on 85 patients (60 patients with @DISEASE$ @PHENOTYPICFEATURE$ dominant subtype [MSA-C] and 25 patients with MSA Parkinsonism-dominant subtype [MSA-P]).	false
+8b6db400eec6da72ffc4c432106ab4bbe6d9490f	Examining single voxels at 3.0 T, we studied metabolic findings of the putamen, pontine base, and cerebral white matter in 24 @DISEASE$ patients (predominant @PHENOTYPICFEATURE$ (MSA-C), n = 13), parkinsonism (MSA-P), n = 11), in 11 age and duration matched Parkinson's disease patients (PD) and in 18 age matched control subjects.	false
+76459b67ff4cad50a7cc198043ab321aac2fb6b4	The present study suggests L25V variant of COQ2 gene as a genetic risk factor in Japanese patients with @DISEASE$ with @PHENOTYPICFEATURE$.	false
+c9b55dffe46db5530c40db328732807dc917740a	There was a significant correlation (R(2) = 0.70, P = 0.001) between ICARS @PHENOTYPICFEATURE$ and UPDRS-III scores in @DISEASE$ patients.	false
+fca13d7731328acf95881b2f3216bb55582b8b83	Studies of the natural history and epidemiology of MSA carried out in various populations have revealed that the relative prevalences of clinical subtypes of MSA probably differ among populations; the majority of @DISEASE$ patients diagnosed in Europe have predominant parkinsonism (MSA-P), while the majority of MSA patients diagnosed in Asia have predominant @PHENOTYPICFEATURE$ (MSA-C).	false
+9e4df36604e3bfeaf54478091338c76011fa87e6	On the other hand, L25V was newly proven to be the only risk factor of sporadic @DISEASE$ with predominant olivopontocerebellar @PHENOTYPICFEATURE$.	false
+b07ac8ca06ccfda0bf9964bef71eaeb2dca69da1	A mixed type of dysarthria involving hypokinetic, @PHENOTYPICFEATURE$ and spastic components was found in the majority of @DISEASE$ patients independent of phenotype.	false
+1852b101457c7c007fbd471753ec3d6f8c4fc593	A mixed type of @PHENOTYPICFEATURE$ involving hypokinetic, ataxic and spastic components was found in the majority of @DISEASE$ patients independent of phenotype.	false
+b6063cb694fa6c92812a56d9f3a1e50c5efcd286	Reported findings associated with @DISEASE$ include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and @PHENOTYPICFEATURE$.	false
+1f1054c2c4707b592cd9aed81c8e147487bdcf86	Expression of the TKI targets evaluated was similar between the 2 COF cell lines and the 6 COF tumor biopsies: PDGFR-? and PDGFR-? were detected in neoplastic cells from most @DISEASE$ @PHENOTYPICFEATURE$ biopsies (5/6 and 6/6, respectively) and were present in both COF cell lines; KIT and KDR were not detected in any sample.	false
+2138b67d1ef13a4cb2e6d7af16942f4cf4620766	Expression of the TKI targets evaluated was similar between the 2 COF cell lines and the 6 @DISEASE$ tumor biopsies: PDGFR-? and PDGFR-? were detected in neoplastic cells from most COF @PHENOTYPICFEATURE$ biopsies (5/6 and 6/6, respectively) and were present in both COF cell lines; KIT and KDR were not detected in any sample.	false
+7d6f91066b0b3e6237e4c9d0e30e87bc4762c3d2	Expression of the TKI targets evaluated was similar between the 2 COF cell lines and the 6 @DISEASE$ @PHENOTYPICFEATURE$ biopsies: PDGFR-? and PDGFR-? were detected in neoplastic cells from most COF tumor biopsies (5/6 and 6/6, respectively) and were present in both COF cell lines; KIT and KDR were not detected in any sample.	false
+bef17ac25373bc36e8ba59a0cd1a30e5b36c565a	Expression of the TKI targets evaluated was similar between the 2 COF cell lines and the 6 COF @PHENOTYPICFEATURE$ biopsies: PDGFR-? and PDGFR-? were detected in neoplastic cells from most @DISEASE$ tumor biopsies (5/6 and 6/6, respectively) and were present in both COF cell lines; KIT and KDR were not detected in any sample.	false
+2b141f9df90f47bed8dcd5bd9b7c2a752f497ca1	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+8be52c4d214c55690e44b911d72f39ed4162b421	Histology showed severe architectural derangement of the eye and brain together with @PHENOTYPICFEATURE$ compatible with the diagnosis of @DISEASE$.	false
+34875ea8a26b6e4e13d74d20fea0133c67cb0de0	Immunohistochemistry for PDGFR-?, PDGFR-?, Kit, and VEGFR-2 was performed in 6 @DISEASE$ @PHENOTYPICFEATURE$ biopsies.	false
+9c7105e2cf905d4f1029803ac16de0a184b50f43	CSB or XPD can cause the severe congenital cerebro-oculofacioskeletal (@DISEASE$) CS-like syndrome with @PHENOTYPICFEATURE$, cataracts, and early death.	false
+6921d3c61f8b930f395b5258c82af8ca8543fe7b	Cerebro-oculo-facio-skeletal (@DISEASE$) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive @PHENOTYPICFEATURE$, and growth failure.	false
+63b6f55df8a2c73050743105c0d3479f5247ce59	We report the case of a 64-year-old woman with @DISEASE$ who developed takotsubo cardiomyopathy, a form of reversible @PHENOTYPICFEATURE$, and we present a review of the literature.	false
+aaabbf05b10266469e043aee1812f22135e0f7c9	Mediastinal chyloma after @DISEASE$ resection: an unusual complication causing left @PHENOTYPICFEATURE$.	false
+81143311d3aa6c79593035e25c1ed5fd3a7883c9	The patient with tumor @PHENOTYPICFEATURE$ on an implanted metal stent showed a partial response, with improvement of dysphagia without destruction of the stent, while in another patient with advanced @DISEASE$, the dysphagia did not improve after continuous laser treatment.	false
+63257ac8fd52bb786ee49dcacd36e7fc1f6fbda7	Using cultured cell sheets harvested from temperature-responsive surfaces, we have established cell sheet engineering to create functional tissue sheets to treat a wide range of diseases from corneal dysfunction to @DISEASE$, tracheal resection, and @PHENOTYPICFEATURE$.	false
+1e0c93f34f2a3091c7e13b3b1fa59b9ebe18513e	Postoperative @PHENOTYPICFEATURE$ (Bil greater than or equal to 2, II greater than or equal to 15) was observed in 46.9% of 239 cases of @DISEASE$, since 1969.	false
+49740eb2bd9cc605af6eb568f50edc506cc5c4cf	Management of tumor @PHENOTYPICFEATURE$ in @DISEASE$ by placement of a second stent: two case reports.	false
+74746c5af75dc8180c5c79f97343b0c732e1c2dd	Human @DISEASE$, gastric cancer, colon cancer and @PHENOTYPICFEATURE$ are common gastrointestinal malignant carcinomas in the world.	false
+39ff875accc2d3a52e91366d58808acc352f1ecd	The perioperative administration of PGE1 helps maintain adequate portal blood flow, improves @PHENOTYPICFEATURE$, and attenuates the duration of SIRS, thereby reducing the risk of postoperative complications after esophagectomy and lymphadenectomy for @DISEASE$.	false
+3f18224425cc3a2705e16f256e932b59580c28d7	In contrast to most children with CMTC, patients with M-@DISEASE$ syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and @PHENOTYPICFEATURE$.	false
+40429c428a284475b95d5c2a2a38595b2eccd04c	Macrocephaly-@DISEASE$ (M-CMTC) is a recently described multiple congenital anomaly/@PHENOTYPICFEATURE$ (MCA/MR) syndrome of unknown cause.	false
+0496b74b6625271b2f30604d6ce4fa748a54b575	@DISEASE$ (CMTC) is a cutaneous @PHENOTYPICFEATURE$ characterized by a persistent cutis marmorata pattern, spider nevuslike telangiectasia, and superficial ulceration.	false
+457da04ed1a4977aa6a72402a641c011754adbe1	An 8-year-old @PHENOTYPICFEATURE$ boy had paired segmental areas of hyper- and hypopigmentation on the left side of his body in association with @DISEASE$ (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm.	false
+34d76aa695e2ccd36cc554b063d2313f977d212e	@DISEASE$ (CMTC) is a sporadic congenital skin @PHENOTYPICFEATURE$.	false
+5fe9db4e577253e0faf4f01c7df15c10aeb2888b	Macrocephaly-@DISEASE$ is a multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities.	false
+3fc5adf90a36d618a14dbff65b1963b64e946c8c	@DISEASE$ is a rare, usually congenital, localized or generalized cutaneous @PHENOTYPICFEATURE$ characterized by a persistent cutis marmorata pattern, spider naevus-like telangiectasia and ulceration or atrophy of the involved skin, which frequently improves with age.	false
+fc2432eaceb80e58b7dd80469c3db56a7df34d26	We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of @PHENOTYPICFEATURE$ retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the @DISEASE$ (RP2) gene.	false
+66adebdcfee7135f27738599f552814124733517	A 10-year-old boy, affected by cleft lip and palate and the @DISEASE$-Ectodermal Dysplasia-Clefting (EEC) syndrome, presented with @PHENOTYPICFEATURE$, microdontia, enamel hypoplasia and caries, as well as white macules and plaques on the buccal mucosa bilaterally.	false
+284264644900db6e07a34ec19a27a120b068c955	Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had @PHENOTYPICFEATURE$, 2 had Ataxia telangiectasia, and one each had @DISEASE$, Wiskott Aldrich syndrome, hyper IgM syndrome and leukocyte adhesion defect.	false
+fa9e6b957344be3d5e848a3deca8bd1c444a8647	@DISEASE$ is a rare disorder of the skeleton characterized by @PHENOTYPICFEATURE$, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus.	false
+4d7a5f4b04ff511702c70496184cc263ae5e958d	The presence of these osseous findings in the context of multiple @PHENOTYPICFEATURE$ suggestive of a skeletal dysplasia should indicate the possibility of @DISEASE$ and pathognomonic features for this entity should be sought.	false
+8e311111a46487b27d307b6b97799f287e417949	Short-lasting, unilateral neuralgiform @PHENOTYPICFEATURE$ attacks with conjunctival injection and tearing syndrome treated successfully with transsphenoidal resection of a @DISEASE$.	false
+1c8dedee43a4ad7d369cced806ca9649e842c161	Myelodysplastic syndromes (@DISEASE$) are a varied set of @PHENOTYPICFEATURE$ and a high risk of progression to acute myeloid leukemia (AML).	false
+fbd160024832b73c57be502d11186043e87e6057	@DISEASE$ (MDS) are a varied set of @PHENOTYPICFEATURE$ and a high risk of progression to acute myeloid leukemia (AML).	false
+a97fcc4962054db5787f4beecebed0513dadc97e	Body weight loss, @PHENOTYPICFEATURE$, hypoproteinemia, hypofibrinogenemia, proteinuria, lack of Auer rods, and 5q-were prognostic factors in TRL/@DISEASE$.	false
+78c9206d388334febed2570dc929b98b63b00708	Myoclonus dystonia syndrome (@DISEASE$) is a young-onset @PHENOTYPICFEATURE$.	false
+b8a0866109a491e9ebc4171f980cb3d064751ba1	Aortic valve replacement was successfully performed in a patient with severe thrombocytopenia associated with @DISEASE$, interstitial pneumonia and @PHENOTYPICFEATURE$.	false
+ddf521308b8fbac7b6dcb4882136e66adbea0814	Myoclonus-dystonia syndrome (@DISEASE$) is an inherited @PHENOTYPICFEATURE$ with clinical and genetic heterogeneity.	false
+0c35bc6eda4e436bf87c224393d63ed637f3c82c	Copper deficiency can present as a combination of hematological and @PHENOTYPICFEATURE$ and it may masquerade as a @DISEASE$.	false
+4f1850f963de8135ba63b0e5d8d79c9560991e6b	Furthermore, the plasma nm23-H1 levels were investigated in 70 patients with other @PHENOTYPICFEATURE$, including 6 with acute lymphoblastic leukemia, 13 with chronic myelogenous leukemia, and 12 with @DISEASE$.	false
+f046987b1f0607d4c81daf32ecb0c9ba61597879	Myelodysplastic syndromes (@DISEASE$) are a heterogeneous group of clonal @PHENOTYPICFEATURE$, and the pathophysiology of these disorders is still unclear.	false
+bac01a99c72bd8974e7f9327bc1ece3286aa2d67	@DISEASE$ (MDS) are a heterogeneous group of clonal @PHENOTYPICFEATURE$, and the pathophysiology of these disorders is still unclear.	false
+5525166979c827da36e3d845c666d01f2f10a6be	In both New Zealand males and females, the age-standardised incidence rate of @DISEASE$ was significantly higher (P < 0.05) than most other @PHENOTYPICFEATURE$.	false
+8a5ca589169ecdf8a7181d05c1c9666faa309c10	To evaluate the use of the NeuroMate stereotactic robot with a novel ultrasound registration system for @PHENOTYPICFEATURE$ surgery (@DISEASE$).	false
+3763e1a07f0606ac91b2ff8ff19ccac09058ab68	In this report, we describe the surgical management of a patient with @DISEASE$ presenting with delayed, but rapidly progressive bilateral lambdoid CS, severe proptosis, midface hypoplasia, elevated ICP, @PHENOTYPICFEATURE$, tonsillar ectopia, and severe venous hypertension with anomalous drainage.	false
+64c8a4eefbff3c681b52f7a5562222032cc9e7eb	BMP4 deletions were detected in two patients: a patient affected with @DISEASE$ and a patient with anterior segment anomalies along with craniofacial dysmorphism and @PHENOTYPICFEATURE$.	false
+ce4d09407dd01ea3f5a1181b53bd1981f34467c0	Advances in quantitative analyses allow measurement of intensity, duration, spread, and time between @PHENOTYPICFEATURE$ (@DISEASE$).	false
+898443a933a66ae9c2b278acf3fc778c70904598	HFES significantly: (1) Decreased @PHENOTYPICFEATURE$ severity in two of eight and increased TBS in one of eight subjects; (2) decreased seizure severity in the primary epileptogenic zone of one subject but increased it in the secondary zones; (3) had both a beneficial and detrimental effect on severity and/or @DISEASE$ (increase).	false
+786ff1b6a40118f7f21febeef3094713f3a12125	HFES significantly: (1) Decreased seizure severity in two of eight and increased TBS in one of eight subjects; (2) decreased @PHENOTYPICFEATURE$ severity in the primary epileptogenic zone of one subject but increased it in the secondary zones; (3) had both a beneficial and detrimental effect on severity and/or @DISEASE$ (increase).	false
+0ec761a4164389e4ff6195595cab4384187d3c11	Well-established treatments such as electroconvulsive therapy (ECT) are clinically relevant for treatment-resistant populations, and novel transcranial stimulation methods such as theta-burst stimulation (@DISEASE$) and magnetic @PHENOTYPICFEATURE$ therapy (MST) have shown promising results.	false
+1ee9440babaf5b75f87fd82a734e17d8bed66490	Additionally, this review highlights the need for rigorous documentation of adverse events associated with @DISEASE$ and intensity dosing studies to assess the @PHENOTYPICFEATURE$ risk associated with various stimulation parameters (e.g., frequency, intensity, and location).	false
+5a7a21ec22742521e854a0a987ae58f339740d3c	@DISEASE$ (TBS) is a condition with imperforate anus, @PHENOTYPICFEATURE$, and ear malformations with sensorineural hearing loss.	false
+f63c6979ac39b202baa333048d3d88fd600f62f1	Townes-Brocks syndrome (@DISEASE$) is a condition with imperforate anus, @PHENOTYPICFEATURE$, and ear malformations with sensorineural hearing loss.	false
+c89541a3029f37f9bd239feb272ea82966756759	Judging from the similar peak field strengths compared to the healthy control, both @DISEASE$ methods are safe in patients with large brain lesions (in practice, however, additional factors such as potentially lowered thresholds for @PHENOTYPICFEATURE$-induction have to be considered).	false
+cea9a55cf36372434ed6841556b0eae972a8285d	Social @PHENOTYPICFEATURE$ in @DISEASE$: A review.	false
+3313a11e2264f94cbb9b18780dc7cb23899a935d	Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/@DISEASE$ (DGS/VCFS), including heart defects, @PHENOTYPICFEATURE$ and velopharyngeal insufficiency.	false
+759287a70c23b6a73648cb8352b13d92c735808e	@DISEASE$ (VCFS) is associated with @PHENOTYPICFEATURE$ and high rates of schizophrenia and other neuropsychiatric disorders.	false
+648c0fdedaada95fab61b1b0921ce74841571dca	To identify genes regulated by the hypoxic response and not other effects of chronic anemia, we compared expression variation in peripheral blood mononuclear cells from 13 subjects with SCD with hemoglobin SS genotype and 15 subjects with @DISEASE$ (VHL(R200W) homozygotes with constitutive upregulation of hypoxia-inducible factors in the absence of @PHENOTYPICFEATURE$ or hypoxia).	false
+eda3d016115fd105443dc7e2ca1e36a0ef2f24cc	Mutations in Lipopolysaccharide-induced @PHENOTYPICFEATURE$ necrosis factor-? factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, @DISEASE$ (CMT1C).	false
+ea2618bb99347734957764a1c98d61660e1903a9	Familial @DISEASE$ with maxillary hypoplasia, prognathism, and @PHENOTYPICFEATURE$.	false
+ec86b438b36e6b86610fb520121e7dd0f5d9e22c	Bilateral jugular venous @PHENOTYPICFEATURE$ and pulmonary emboli in a patient with severe @DISEASE$.	false
+0950f7582861b7158939fca042f864849a5d6646	Except for one patient with @DISEASE$, all had pure TSH-secreting @PHENOTYPICFEATURE$.	false
+b358df27026f3ff03c7ba7f35cf5c9b72d22a6cb	Hyperthyroidism and @DISEASE$ caused by a pituitary TSH- and GH-secreting @PHENOTYPICFEATURE$.	false
+9d33b44cb5371f3514efd01579ba06ca79ec9af8	Biochemical cure of @DISEASE$ was more strongly associated with pretreatment GH than with @PHENOTYPICFEATURE$ size.	false
+c37fea605831a9d97f0d0c08142ff6ba49073891	Colonic @PHENOTYPICFEATURE$ in @DISEASE$: increased proliferation or deceased apoptosis?	false
+7b30ca2bf947b8dab34fa1fe529e7d2b3630b45b	GRH-producing @PHENOTYPICFEATURE$ associated with @DISEASE$ are rare.	false
+74b1bc1bb3818c91ef82881bee0bf0df034d52eb	vapreotide) are used for treatment of @DISEASE$, endocrine @PHENOTYPICFEATURE$ and variceal bleeding.	false
+2d057468aa5232f41e5799b60c25e883d58bd2fa	Somatostatin analogues in @DISEASE$ and gastroenteropancreatic neuroendocrine @PHENOTYPICFEATURE$: past, present and future.	false
+0862dd0058500119fb4c19e85984b39c2c132d08	[Coexistence of @DISEASE$ and calcified @PHENOTYPICFEATURE$ of the temporal fossa].	false
+751a9d5130d6702bb537a7d3adb5f8b3d9fbc51b	Coexistence of @DISEASE$ and numerous other @PHENOTYPICFEATURE$ suggests a common aetiology of these disorders.	false
+82abaa760d049f5b1002ca3dec0c0c1dd04b0a80	Treatment for @DISEASE$ and other @PHENOTYPICFEATURE$ generally may be deferred until after delivery.	false
+bdb70fbc66e0c3bb9284010842f7f89c3f4e4ec7	A 15-month-old girl with @DISEASE$ presented a failure to thrive and @PHENOTYPICFEATURE$, who had been treated with diets low in leucine, valine, isoleucine, threonine and methionine.	false
+69873cf64c86612b684b68ae8de67117424e040b	Analysis of this and the other 26 reported cases suggests that patients with nonketotic hyperglycinemia develop @PHENOTYPICFEATURE$, not seen in @DISEASE$.	false
+b1a1e92649c3d21037707e8ac09f5e9f17aa0f22	Methylmalonic acidemia (MMA) and @DISEASE$ (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and @PHENOTYPICFEATURE$ and often resulting in chronic complications.	false
+0a5744f026742823be2f117a69ec352887ada1d8	Among newborns, early-treated @DISEASE$ has been consistently associated with later @PHENOTYPICFEATURE$.	false
+a538448410cc0c5f533afd2c65724c69748dc6fb	Children with @DISEASE$ and without mental disability had mild @PHENOTYPICFEATURE$, which should be taken into account for a comprehensive patient care.	false
+171b33042eb38fb45b846ba3ad147d26e42ba99a	@DISEASE$ (CH) is considered the most common preventable cause of @PHENOTYPICFEATURE$, with a worldwide annual incidence of 1:4000 live births.	false
+8546b2488c4ce6c2f21426ad7e87f9e7be50e2bb	Children with @DISEASE$ (CH) detected by newborn screening and adequately treated may have mild @PHENOTYPICFEATURE$.	false
+26dccca5053f405ab7eeb6b8c27cb6fdf961d0ae	Decreased cerebellar acetylcholinesterase activity after MMI treatment was assumed to relate to a mechanism of motor and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e44d47245b8b89ea299a56d0b07f6c53c288fc64	Individuals with @DISEASE$ (CH), even those diagnosed and treated early, experience selective @PHENOTYPICFEATURE$, the most striking of which involves the visuocognitive domain.	false
+28386857d78a23140357730d94e86ca84761e45c	Hallmark clinical signs of @DISEASE$ are @PHENOTYPICFEATURE$ and skeletal developmental abnormalities, resulting in disproportionate dwarfism; goitre may or may not be present.	false
+3c2bc7ed7e9a4a9c8d316ecb0196920976f1e566	Congenital @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+1de8f43ca6a6c77a528e9ec2c9e90bd3070d4c1c	On the basis of strong clinical evidence, @DISEASE$ should be identified and treated early to avoid potentially profound @PHENOTYPICFEATURE$.	false
+a53379e57512ddbae9920a4f1689c9e3d8d09412	It is characterized by the association of @DISEASE$, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and @PHENOTYPICFEATURE$), and abnormalities of the extremities.	false
+f7ce883b6931061386630137e539989a11e1ecbe	@DISEASE$, requiring combined liver and kidney transplantation), or in a neurological form (Lesch-Nyhan syndrome leading to auto-mutilation and disability, phosphoribosyl pyrophosphate synthetase superactivity, which is associated with @PHENOTYPICFEATURE$).	false
+16c66e32d195761e2c9a58a1e1f6861d28a329b4	Temporary treatment of @PHENOTYPICFEATURE$ and @DISEASE$ with isosorbide: preliminary report.	false
+a44764e59e93ce40a7ae16be416982f63bb65058	Central nervous system infections in @PHENOTYPICFEATURE$ or @DISEASE$.	false
+4200ab26c006d87e7982c748ff845befb487b764	The survival rates for @PHENOTYPICFEATURE$ alone and for hydrocephalus with @DISEASE$ are comparable.	false
+555f5615860f786d2da3d7df6dbbe2b96aba68b9	The survival rates for hydrocephalus alone and for @PHENOTYPICFEATURE$ with @DISEASE$ are comparable.	false
+36fc722c7c84cbf13f860214a17c541346fdc667	Isosorbide in the medical management of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+869719fbba27527b5e5d792be28dff5182c2c744	The relationship of compensated @PHENOTYPICFEATURE$, meningomyelocele, and progressive hydromyelia postnatally may support the hydrodynamic hypothesis of @DISEASE$.	false
+6b61f56d3c35869daa065833c0cfb93356da8651	[Course observations in children with @PHENOTYPICFEATURE$ and @DISEASE$].	false
+ff068ab3aaef53407e76312c98c200e9ea85c98c	Two of these patients developed their hydrocephalus after intraventricular hemorrhage, and in six patients the @PHENOTYPICFEATURE$ was associated with @DISEASE$.	false
+dc61f15e6c357ed13bc2a64b1a78eb62518e5146	Two of these patients developed their @PHENOTYPICFEATURE$ after intraventricular hemorrhage, and in six patients the hydrocephalus was associated with @DISEASE$.	false
+ccdea0b2fc29710b95edc2dfb4a7dee54722df4c	@PHENOTYPICFEATURE$ manifestations may be more common than previously recognized in patients with @DISEASE$.	false
+10ef6c6ecd7a6d263d1a5eae7ed3ecff46bba624	Abstract We report the case of a 56-year-old Japanese woman with Beh?et's disease and @DISEASE$ (MDS), who had a history of episodic high-grade fever, recurrent oral and genital ulcers, and @PHENOTYPICFEATURE$, during a 13-year period from 1989 to 2002.	false
+8ad7fd689424aac461dbb650c3402516d75162f1	Abstract We report the case of a 56-year-old Japanese woman with Beh?et's disease and myelodysplastic syndrome (@DISEASE$), who had a history of episodic high-grade fever, recurrent oral and genital ulcers, and @PHENOTYPICFEATURE$, during a 13-year period from 1989 to 2002.	false
+47fcc4e9e73ce5d255fdda0863326be40a6e3bf0	As LPD may contribute to infertility and early @PHENOTYPICFEATURE$, further research is warranted to elucidate how dietary factors, such as @DISEASE$, may influence LPD.	false
+a2bd07dfb4a265ead82401a0367c43c270fe6e80	To describe the utility of simple limbal epithelial transplantation (SLET) along with @PHENOTYPICFEATURE$ excision in the management of extensive ocular surface squamous neoplasia (OSSN) to avoid @DISEASE$ (LSCD).	false
+ee3db98d8ff580a0ed650e70708925d74d278045	As an immunological crossroads and since the corneoscleral limbus is directly exposed to external insults such as caustic agents, ultraviolet radiation, microbial agents, and allergens, it is the potential site of many @PHENOTYPICFEATURE$, degenerative or inflammatory pathologies and may progress under certain conditions to @DISEASE$.	false
+db4ade08476df902b03e39e5ec10dd7f5abdc6b5	We carried out the membrane amniotic implantation on 11 patients with different pathologies: three cases of @DISEASE$ (caustication with failure of prior keratoplasty, congenital aniridia and post-radiotherapy keratopathy), one case with persistent neurotrophic corneal ulcer after prior keratoplasty, four cases with epithelial defect of long evolution, one case of extensive Salzmann's degeneration of the cornea, and two cases after the resection of conjunctival @PHENOTYPICFEATURE$.	false
+668750ab04e5d32c65573c6708f6f840ad955188	This case highlights a rare case of advanced ocular surface @PHENOTYPICFEATURE$ causing secondary @DISEASE$.	false
+39c91fc33ddcf0d78db1bd646999c479f3ab9270	Main preoperatives diseases were pterygium (76 patients), superior limbic keratoconjunctivitis (4 patients), limbal @PHENOTYPICFEATURE$ (4 patients), conjunctivochalasis (21 patients), bullous keratopathy (31 patients), @DISEASE$ (7 patients), alkali injury (6 patients), Stevens-Johnson syndrome (2 patients), cataract (5 patients) and glaucoma (5 patients).	false
+ee3db98d8ff580a0ed650e70708925d74d278045	As an immunological crossroads and since the corneoscleral limbus is directly exposed to external insults such as caustic agents, ultraviolet radiation, microbial agents, and allergens, it is the potential site of many @PHENOTYPICFEATURE$, degenerative or inflammatory pathologies and may progress under certain conditions to @DISEASE$.	false
+b55a09c0a062624a03d7867d3e2a0f95dd895069	These results show that OHC dysfunction contributes to @DISEASE$ hearing loss, OHC function is required for optimum speech in noise performance, and those persons with @PHENOTYPICFEATURE$ exhibit better word discrimination in quiet at or near their audiometric thresholds than normal listeners.	false
+24a5b784f54d8bbd8b6de412734877fa49fd551a	Soft tissue perineurioma in a patient with @DISEASE$: a @PHENOTYPICFEATURE$ not previously associated with the NF2 syndrome.	false
+781bc4c88551fe6c4532b4ac5e2feea5d919868b	Soft tissue perineurioma in a patient with neurofibromatosis type 2: a @PHENOTYPICFEATURE$ not previously associated with the @DISEASE$ syndrome.	false
+255de624bcc5d8b8396b12856297a464473aadd9	Vestibular schwannomas can present unilaterally and sporadically or bilaterally when the @PHENOTYPICFEATURE$ is associated with @DISEASE$ (NF2) syndrome.	false
+e63e69751f71e6f496e6f1d9c806e1b5bf53b3bf	Vestibular schwannomas can present unilaterally and sporadically or bilaterally when the @PHENOTYPICFEATURE$ is associated with neurofibromatosis Type 2 (@DISEASE$) syndrome.	false
+59b49e8e145429709919c0c6c7044bf162a2fa34	An uncommon case of @DISEASE$: a tribute to the @PHENOTYPICFEATURE$.	false
+9f4b3748baa93ddc73acf880267949d45c8083c2	Spinal @PHENOTYPICFEATURE$ in @DISEASE$: management considerations - a review.	false
+2808291e3533231f3f3b4b8058182eec7b787991	Patients with @DISEASE$ @PHENOTYPICFEATURE$ were excluded.	false
+0370c7e1f76fa3c0f375d4a5b1b7674f1f0f01a9	Management of multiple @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+7810f62b35aac774c21361f8b820ba2b93ae671d	@PHENOTYPICFEATURE$ and seizures: a case of @DISEASE$.	false
+a95e165651fba1b3925cf5c1ae9a76d305bf5761	Natural history of @DISEASE$ @PHENOTYPICFEATURE$.	false
+7a93cb178815cc7b352bc7f822e01e5ca4108688	Treatment paradigms for sporadic and neurofibromatosis type 2-related @PHENOTYPICFEATURE$ are distinct and decision-making in @DISEASE$ is uniquely challenging.	false
+295d312bb32dae036220eb703712d287bca34483	Treatment paradigms for sporadic and @DISEASE$-related @PHENOTYPICFEATURE$ are distinct and decision-making in neurofibromatosis type 2 is uniquely challenging.	false
+816351577017ecb32be028a24f1cd87f38ccaa42	Loss of merlin is associated with @DISEASE$ (NF2) @PHENOTYPICFEATURE$.	false
+6e0e38f1b5bf6538575c2f09e483d1a657b1ca1f	Loss of merlin is associated with Neurofibromatosis Type 2 (@DISEASE$) @PHENOTYPICFEATURE$.	false
+27955e8f4e7282a6d86399f149831c9eed663828	@DISEASE$ (tuberin) is a @PHENOTYPICFEATURE$ suppressor, which negatively regulates cell growth.	false
+9ec8a664e58f31784311765f6f351b1e1501f984	Aberrant splicing in several human tumors in the @PHENOTYPICFEATURE$ suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and @DISEASE$.	false
+ed430d228e425fb6b6c83b52e83e9d6547549f63	Aberrant splicing in several human @PHENOTYPICFEATURE$ in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and @DISEASE$.	false
+19b3b514be94658c1a7f56fad983d7067c4e28ad	Allelic loss at the @DISEASE$ locus in spontaneous @PHENOTYPICFEATURE$ in the Eker rat.	false
+38a8d73df939f532dd47fcb4b7411762551047c1	Genetic variants of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene in mouse t haplotypes.	false
+a827c947c8b6a0985894896a45f187cac1736527	Polycystic kidney disease as a result of loss of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene during development.	false
+bb004de826d055423df72ccdfea37e94b59228ff	Transformation of kidney epithelial cells by a quinol thioether via inactivation of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene.	false
+38af704b3aed56538722c88e54e75e8a2b862ca7	26 children (24 males and 2 females) (3.3 %) demonstrated MRI abnormalities (8 leukodystrophic changes, 4 periventricular leukomalacia, 3 brain atrophy, 2 @DISEASE$ vascular changes, 1 pineoblastoma, 1 cerebellar angioma, 1 @PHENOTYPICFEATURE$, 3 agenesis of corpus callosum, 1 neuro-epithelial cyst).	false
+d5fd94dd29e243e3c9b8b6f6b376bc0314f0c6d7	@DISEASE$ @PHENOTYPICFEATURE$ suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells.	false
+ce54a92511ea868c21f946dcb702900a757b3cf8	The G1556S-type tuberin variant suppresses @PHENOTYPICFEATURE$ formation in @DISEASE$ mutant (Eker) rats despite its deficiency in mTOR inhibition.	false
+b71e73b2833b2bb8e74e9686fc232fd37eaea24d	Loss of function of the @DISEASE$ @PHENOTYPICFEATURE$ suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development.	false
+ce283f9dedaaa2b1e04ce98918bcd7e72051aa8c	@DISEASE$ in mentally retarded adults with @PHENOTYPICFEATURE$ and clinical anophthalmia.	false
+bf9503397cbc1e06fb325e118a7a0d69993dc1b8	Reduced conversion of dehydroepiandrosterone into estrogens in women having @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+29cde649ee6877a5ce5c3a7394f91de85ac5b3ae	Hypertension, postphlebitic syndrome of lower limbs, frequent @PHENOTYPICFEATURE$, and anemia were present in his history; in his adolescence, he was treated for idiopathic @DISEASE$.	false
+d525c15ae1722d952ac8f0fe2c316b402b0e56f4	Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and @PHENOTYPICFEATURE$ were present in his history; in his adolescence, he was treated for idiopathic @DISEASE$.	false
+b226aa5236bcf1d6db6f02ceee1edbb2fba60d22	Isolated @DISEASE$ with SOX2 mutation and anophthalmia/@PHENOTYPICFEATURE$ in offspring.	false
+1d346d505bb613abf2535ca75d9eef61283e872f	The @PHENOTYPICFEATURE$ in two men with isolated @DISEASE$ were studied clinically and electro-oculographically.	false
+c546033b14b303104e90366a46fd01a9c09e9b57	We describe a 21-year-old male with mildly progressive ataxia, mental retardation, pituitary @DISEASE$, delayed dentition, and @PHENOTYPICFEATURE$.	false
+a7ec73c3d863207bd195f9f3e22380a443e05f18	Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, @PHENOTYPICFEATURE$, anosmia/hyposmia, and @DISEASE$.	false
+37cc7f74acb3057e944a6675b2cd11c6365bbc5b	Five of 13 patients with @PHENOTYPICFEATURE$ or clinical anophthalmia studied in an institution of 650 mentally retarded adults had @DISEASE$.	false
+6e92576d54c0a0ed1cf902c4827a59a0c6de7cbf	SOX2 anophthalmia syndrome characteristically presents as anophthalmia or @PHENOTYPICFEATURE$, with various extraocular symptoms, such as @DISEASE$, brain anomaly, and esophageal abnormalities.	false
+4c20f8b1aa9ed6b26945294de9ef7cb15e902644	A case with central and peripheral hypomyelination with @DISEASE$ and hypodontia (4H syndrome) plus @PHENOTYPICFEATURE$.	false
+8c70685fe3ad538ab35bed593260edc31bd98e83	Because these families were mapped to the same locus as @DISEASE$ (LO) and presented clinical and radiological overlap with individuals with hypomyelination, hypodontia and @PHENOTYPICFEATURE$ (4H) syndrome, we sequenced this gene in nine individuals with 4H and eight with LO.	false
+7689fb83a2e31f832eb42cdd1341cb68e4993c54	The most striking clinical features of @DISEASE$ which appear within the first 2-3?years of life are: moderate short limbs and @PHENOTYPICFEATURE$, a waddling gait, and increasing shortness of stature with age.	false
+510be8cd7f241b3e0a9943849d1e71a8f8bcf45b	@DISEASE$ (SMCD; MIM 156500) is an autosomal dominant disorder of the skeleton that is manifested in early childhood by @PHENOTYPICFEATURE$, coxa vara, and a waddling gait.	false
+04ffd0a01544b98aac553a048ec7aef2475681b9	@DISEASE$ (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by @PHENOTYPICFEATURE$, bowed legs, and a waddling gait.	false
+5ca6a22e3e6537993eca0633e44f44e6d922d0d3	COL10A1 mutations, which frequently result in COL10A1 haploinsufficiency, have been identified in patients with @DISEASE$ (SMCD), a cartilage disorder characterized by short-limbed @PHENOTYPICFEATURE$ and bowed legs.	false
+c4799f682b1435591b4f6fc87c554ec498543d0c	@DISEASE$ (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed @PHENOTYPICFEATURE$ with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones.	false
+fcccab0a9a2c62b3781e9375217d1601e544f1fe	Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and @DISEASE$ (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and @PHENOTYPICFEATURE$.	false
+80478d6e9a9628a12d0cea86674d9598cb53ca4a	Fibrous dysplasia (FD) is a disorder involving either one (monostotic) or several bones (polyostotic FD [PFD] and sometimes is associated with cafe-au-lait @PHENOTYPICFEATURE$ and one or more hyperfunctioning endocrinopathies (McCune-Albright syndrome [@DISEASE$]).	false
+fddff2fe41a846adec6c5ae20baf03ea356f50e9	BFD may be isolated, or in association with @PHENOTYPICFEATURE$ and/or hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (@DISEASE$).	false
+43ddc876457569675c662f7f1f1c062775c66cf7	McCune-Albright syndrome (@DISEASE$) is a genetic disorder characterized by the triad of fibrous dysplasia, @PHENOTYPICFEATURE$, and autonomous hyperfunction of various endocrine organs.	false
+473c7944a0a8b8888884dda5d2ee1df04e9e3230	Two cases of McCune-Albright syndrome (@DISEASE$) are reported who presented in the neonatal period with profound @PHENOTYPICFEATURE$, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy.	false
+efcbf3892da3a3a1042962470ae25006bc28302f	In McCune-Albright syndrome (@DISEASE$), subjects show autonomous endocrine hyperfunction associated with fibrous dysplasia of bone and @PHENOTYPICFEATURE$.	false
+25ef124a53276a8487ca59ba05db448286a86049	The classical triad of McCune-Albright syndrome (@DISEASE$) consists of polyostotic fibrous dysplasia (FD), @PHENOTYPICFEATURE$ (caf?-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty.	false
+69ba1e015afd9559c59ce0c0d717fac849b292b7	This explains why @DISEASE$ patients have stimulation of multiple peripheral endocrine glands in the absence of circulating stimulatory pituitary hormones and @PHENOTYPICFEATURE$, which is normally induced by melanocyte-stimulating hormone through G(s)alpha/cAMP.	false
+8f16e59e7f20f3999188ff13e84002897ed42bd0	[@DISEASE$ ovarian @PHENOTYPICFEATURE$].	false
+d31913a04214a5c74866ef4e6272f88102c96fa7	Tendency to progressive unilateral @PHENOTYPICFEATURE$ in patients with @DISEASE$ is usually associated with thinning and expansion of the cortex and distortion of the normal lower limb integrity secondary to repetitive micro-fractures.	false
+a21dae818b3d7462ac2efccea0abc0ce105cb49c	Hypophosphatemia due to renal phosphate wasting has been reported in association with FD as a part of the McCune-Albright Syndrome (@DISEASE$), which is characterized by FD, @PHENOTYPICFEATURE$, and precocious puberty.	false
+98f0645f04b0af80634803aa73964271afbc63bd	Underlying etiologies were MPD, 13 (polycythemia vera, 8; essential thrombocythemia, 4; undefined, 1); @DISEASE$, 1; anticardiolipin antibody, 1; oral contraceptive use, 3; and idiopathic, 4. All patients had ascites, hepatomegaly, and/or @PHENOTYPICFEATURE$.	false
+98355f67432e63d80517c960f38adf54f0269e97	@DISEASE$ syndrome consists of a wide clinical spectrum that usually presents with @PHENOTYPICFEATURE$, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations.	false
+0a1c76492db081b6ca2283ea6452fca8ef0fd614	@DISEASE$ (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, @PHENOTYPICFEATURE$, and mixed motor abnormalities including spasticity, ataxia, and dystonia.	false
+285e4059177544973a0352ec2dba614bbc32c291	@DISEASE$ is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.	false
+1e1e61130fcad0d40fb4942c22f306cdb10777a9	@PHENOTYPICFEATURE$, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), @DISEASE$, and others.	false
+a11bd57597892744ecda87dbdf01229a8471adfe	@DISEASE$: an autosomal-dominant disorder with pigment anomalies, @PHENOTYPICFEATURE$, nail dysplasia, and hypodontia.	false
+11480e7b477626ff686b47e3133cd277a315555e	Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: @PHENOTYPICFEATURE$-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (@DISEASE$, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Mammary (LMS syndrome, MIM 603543) [2].	false
+f0970222ec0e3b75d0a7d91526a1387861719621	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	false
+06c773fc7f3619fc1e495beaf271e6d7f1c64c56	The condition appears to be genetically heterogeneous and recently it has been demonstrated that mutations in the p63 gene, a homologue of the tumor suppressor gene p53, are the cause of at least four autosomal dominant genetic syndromes which feature @PHENOTYPICFEATURE$: ectrodactyly, ectodermal dysplasia, and facial clefting (EEC), split hand/split foot malformation (SHFM), limb-mammary syndrome (LMS), and @DISEASE$ (ADULT).	false
+f4276daa0559c5c0a1b381f52d439ef93e09da8a	The condition appears to be genetically heterogeneous and recently it has been demonstrated that mutations in the p63 gene, a homologue of the tumor suppressor gene p53, are the cause of at least four autosomal dominant genetic syndromes which feature ectrodactyly: @PHENOTYPICFEATURE$, ectodermal dysplasia, and facial clefting (EEC), split hand/split foot malformation (SHFM), limb-mammary syndrome (LMS), and @DISEASE$ (ADULT).	false
+0f4cecb98d5a3ed6258ee2dcb97dce1e9373ea9c	In 1993, we described an autosomal-dominant syndrome in a German family characterized by @PHENOTYPICFEATURE$/syndactyly, dysplasia of nails, lacrimal duct atresia, hypodontia, hypoplastic breasts and nipples, intensive freckling (@DISEASE$, acro-dermato-ungual-lacrimal-tooth syndrome, MIM 103285).	false
+4c962f4d26c3fc566a53d9c4d539de155c736498	Genetic disorders of PIP metabolism include forms of epilepsy, neurodegenerative disease, brain malformation syndromes, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+03ccd340101b59f46c10d7187e9b8a9df589a6c4	Dynamin 2 (DNM2) mutations cause autosomal dominant centronuclear myopathy, a rare form of @DISEASE$, and intermediate and axonal forms of Charcot-Marie-Tooth disease, a @PHENOTYPICFEATURE$.	false
+84e39bb7a4a764b91d4b86f111e36a0695ff9668	Loss-of-function mutations in MTM1 cause the severe @DISEASE$ called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth @PHENOTYPICFEATURE$.	false
+b67dc6b3def7f1f91ea89f611149dc437e82e38a	There is an age-dependent association with worsening of epilepsy, behavioral disturbances including obsessive-compulsive behavior, and @PHENOTYPICFEATURE$ with age in @DISEASE$.	false
+f1ae47589901c2a90ca45c856351415957ce6114	@PHENOTYPICFEATURE$ with Mycobacterium kansasii in a patient with @DISEASE$ and Sweet syndrome.	false
+fcf5d2b276593230c67ee616f3deac02142e46af	Miller-Dieker syndrome (@DISEASE$) is associated with larger deletions of 17p13.3 and consists of classical lissencephaly with additional phenotypes including @PHENOTYPICFEATURE$.	false
+15ca5833b91bb89a2bad59eb87e12dd585e253d7	We report a 30-month-old female with intrauterine growth retardation, @PHENOTYPICFEATURE$, pancytopoenia and @DISEASE$ with monosomy 7 in the marrow.	false
+64d8fc09e47066bfbe539b7b11cbb4ddea0f2de6	Polyarthritis, mononeuritis multiplex and eczematous ulcerative @PHENOTYPICFEATURE$ in a patient with @DISEASE$ and peripheral large granular lymphocytosis.	false
+b8f28b05c90fbd21f775f2c643778103758e3eb1	@PHENOTYPICFEATURE$ due to Mycobacterium szulgai in a patient with @DISEASE$.	false
+f239953ccd6fa36bd4271aec896ba1dc2fff396c	An 80-year-old man, immunocompromised by @DISEASE$ (MDS), developed a @PHENOTYPICFEATURE$ with exfoliation and eruption on his face and scalp.	false
+88d31490308699461dbed68996240e2f64569b31	An 80-year-old man, immunocompromised by myelodysplastic syndrome (@DISEASE$), developed a @PHENOTYPICFEATURE$ with exfoliation and eruption on his face and scalp.	false
+8d46e6f2e3b82a2a1f89d8fa5539d530ea09646b	Six in vitro growth patterns were observed; 85% of patients with @DISEASE$ showed various @PHENOTYPICFEATURE$ patterns, and 42% of all MDS patients exhibited a leukemic growth pattern at diagnosis.	false
+6ccea2092c18eb6e31ac70c3a10a657ccb32131a	Six in vitro growth patterns were observed; 85% of patients with MDS showed various @PHENOTYPICFEATURE$ patterns, and 42% of all @DISEASE$ patients exhibited a leukemic growth pattern at diagnosis.	false
+dee5f1025c5f2ed960a3785b615e0a2ab5c9a692	Abstract We report the case of a 56-year-old Japanese woman with Beh?et's disease and myelodysplastic syndrome (@DISEASE$), who had a history of episodic high-grade fever, recurrent oral and @PHENOTYPICFEATURE$, and erythema nodosum, during a 13-year period from 1989 to 2002.	false
+345c7ae41e235c553cbbc846de7b1c5769fa7db0	Abstract We report the case of a 56-year-old Japanese woman with Beh?et's disease and @DISEASE$ (MDS), who had a history of episodic high-grade fever, recurrent oral and @PHENOTYPICFEATURE$, and erythema nodosum, during a 13-year period from 1989 to 2002.	false
+6eee56f90c5020ab064feb6ce78d316fcb014b61	We describe a case of acquired monosomy 7 myelodysplastic syndrome (@DISEASE$) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+bb4d050383c452b72851df3f4fb25ccfcc469d29	We describe a case of acquired monosomy 7 @DISEASE$ (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, @PHENOTYPICFEATURE$, and chronic lung disease.	false
+fbacc7d51c790fb694754fc4cdc7fda82b744188	@PHENOTYPICFEATURE$ caused by Mycobacterium malmoense in a patient with @DISEASE$.	false
+145b1c9541450e0aeb824413dd7216c6c5b82843	Patients with @DISEASE$ and ERP had significantly higher mean serum calcium and phosphate concentrations, more frequent episodes of @PHENOTYPICFEATURE$, and higher doses of oral vitamin D and phosphate during the first 3 years of therapy.	false
+ee5dd44cfb51a4e2c5ea8d7af6ba96a86f78d960	We describe a patient with @DISEASE$ caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, @PHENOTYPICFEATURE$, renal failure, and hypertension.	false
+95d46f46fd05fa949e6e968b01ac00ce6b6257d8	Features included repeated regurgitation or rumination (99%), signs suggesting esophageal pain (49%, excessive crying "colic," sleep disturbance, Sutcliffe-@DISEASE$, respiratory symptoms 42%), @PHENOTYPICFEATURE$ (18%), and minor hematemesis (18%).	false
+186d015e7f555e54255f060a98e5a9c76af4e0ae	It is characterized by progressive spondyloepimetaphyseal dysplasia leading to @PHENOTYPICFEATURE$, @DISEASE$, and coarse facies.	false
+4688900ea7821059b96d2df1fb0f54ba04b3ab17	Monozygotic male twins born to nonconsanguineous parents had dysmorphic facial features, @DISEASE$, @PHENOTYPICFEATURE$, and congenital intracerebral calcification.	false
+eaaa27b0e40c20a6c185f5cf3b8b798619985e0d	This metabolic disorder is characterized by severe @DISEASE$, psychomotor regression, and progressive @PHENOTYPICFEATURE$.	false
+bcd51a703c8b12c53aaaaaabd84411011dab9669	Patients show regression of acquired skills, motor, and @PHENOTYPICFEATURE$, cardio-respiratory distress, @DISEASE$, and stereotyped hand movements.	false
+fb28a90913aa9014fd6eb528172fea131a509f58	Dwarfism associated with borderline intelligence, @DISEASE$, microphthalmia, and @PHENOTYPICFEATURE$.	false
+01f57b821166a17e7b21bdd1d4acd607b6fa6f98	DYRK1A haploinsufficiency causes a new recognizable syndrome with @DISEASE$, intellectual disability, @PHENOTYPICFEATURE$, and distinct facies.	false
+7d7b77c16723a36653c69b0517e9f5c4cc27fd69	Other anomalies include @DISEASE$, facial clefts, filiform bands, @PHENOTYPICFEATURE$, syndactyly, and other ectodermal and nonectodermal anomalies.	false
+72e24e1be8cdde58cb3fd53e9662d90c6be04314	We studied a patient with @DISEASE$, short stature, type B brachydactyly, @PHENOTYPICFEATURE$, skeletal anomalies, and mental retardation.	false
+2a669c5cfbd7399883613b77d968ca2b6825939a	Some cases also present with epilepsy, growth retardation with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+bb2e4b8be80a92029703be82d7a4abb6518ff5d2	Both had @DISEASE$, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, @PHENOTYPICFEATURE$, skeletal anomalies, dwarfism, and mental retardation.	false
+1b6ebba7d86c6c38fd4371afee910622a02df444	Special mention deserve the particular cases of malabsorption syndromes that appears in: acrodermatitis enteropathica, dermatitis herpetiformis, Whipple disease, @DISEASE$, dermatogenic enteropathy and abnormalities that occur as complication from the surgery treatment for @PHENOTYPICFEATURE$ improvement.	false
+b40c236d83ab4de7de759c6dfe98b73861f46435	Difficult case of @DISEASE$ with small intestinal bacterial @PHENOTYPICFEATURE$, Clostridium difficile infection and polymyalgia rheumatica.	false
+2de03accce9ef6faeffdea0dfa00d0a3e9a794d5	This method has already been shown to be effective in recessive dystrophic bullous epidermolysis, lethal Herlitz's junctional bullous epidermolysis, bullous ichthyosiform hereditary erythroderma, von Recklinghausen's neurofibromatosis, tyrosinase negative oculocutaneous @PHENOTYPICFEATURE$, Gorlin's syndrome, anhidrotic ectodermic dysplasia and @DISEASE$.	false
+e0ddcb9281c4feae7a053cf4105c2b881de7cfbc	Isolation and purification of ceruloplasmin in oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, Wilson's disease and pregnant women.	false
+0ccea715f4bdad2454cd244419922886a018727e	This study investigates whether a combined rotating dipole (RD) and moving dipole (@DISEASE$) solution enhances three-dimensional electroencephalography (EEG) source imaging (3D-ESI) localization in magnetic resonance imaging (MRI)-negative pediatric patients with @PHENOTYPICFEATURE$ (FCD).	false
+86d0ebf940280fdc7886c048c038675baea66d42	This group includes oculo-cutaneous @PHENOTYPICFEATURE$, Ch?diak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, @DISEASE$, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica.	false
+3403e87b30073191860baabdb18fd80ec2a4ad2a	It was applied to serum of patients with oculocutaneous @PHENOTYPICFEATURE$, Wilson's disease, @DISEASE$ and pregnant women.	false
+42d4ba4ef4b85bf9a5df808a38e6c0ed0ffc1ced	@DISEASE$ is a disorder of copper transportation that results in multi-systems involvement including @PHENOTYPICFEATURE$, seizure, dysmorphic facies and kinky hair.	false
+f9caf4f4ab60ab5fb180d47a1a4a73a05f3ad514	These disorders are represented by oculocutaneous @PHENOTYPICFEATURE$, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, @DISEASE$ and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH.	false
+296dbab86a9b0a47570f6e64b2b2c3b65bfc5ac4	Oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology.	false
+15bd152b12b5418fdca777cd3ffe265b4a7297b2	Hair and skin @PHENOTYPICFEATURE$ are described in males with @DISEASE$ from birth to 12 years of age and in 28 obligate carrier or at-risk females.	false
+8853789c51e72e253b2338b5901d01fcc318865b	Her clinical features include moderately severe developmental delay, absence of speech, @PHENOTYPICFEATURE$, congenital dislocation of the hips, premature adrenarche, dysmorphic facial features, deep palmar creases, and signs and symptoms of peripheral neuropathy consistent with @DISEASE$ (CMT1A).	false
+7190edace54f3adf34c50676f4aca69c067d5e66	A novel point mutation in PMP22 gene associated with a familial case of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+dc5fe8e7f4eb43cf135d82b4fddb3f886ea646b9	@DISEASE$ is an autosomal dominant polyneuropathy due to peripheral myelin protein 22 gene duplication and characterized by slowly progressive distal limb muscle weakness, atrophy and sensory loss with @PHENOTYPICFEATURE$.	false
+182f0ee57f0e952faaf489d28d2764625a8a7540	In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral @PHENOTYPICFEATURE$, we found a duplication of the @DISEASE$ and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p.	false
+4a457fa8ba50d73ea1b11b0bc104d490ffd69a69	Additional dysmorphic findings included enlarged fontanelle, @PHENOTYPICFEATURE$, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dyplastic fingers and toes with @DISEASE$- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia.	false
+cb677c642b625e03fdd093f1b69ab0a4312ebccf	Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, @PHENOTYPICFEATURE$, dysplastic ears, pterygium colli, dyplastic fingers and toes with @DISEASE$- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia.	false
+3ab069a5d64bef1d457a4e6981e12f3d426ec41f	This latter disorder is believed accompanied by @PHENOTYPICFEATURE$, a feeling of ear pressure, otalgia and deafness as symptoms of a functional deficit of the @DISEASE$ cervical spine.	false
+b08e1f7d79f7e10151610b21aff60fad45acac6f	This latter disorder is believed accompanied by tinnitus, a feeling of ear pressure, otalgia and @PHENOTYPICFEATURE$ as symptoms of a functional deficit of the @DISEASE$ cervical spine.	false
+35720b1ae30d0157570551ada2680508abc988d9	Additionally, all patients demonstrated variable @PHENOTYPICFEATURE$ with @DISEASE$ respiratory airway abnormalities.	false
+220807d36b475b4ec5353ac1e0b3f3c58926f94e	Macrognathia of the @DISEASE$ jaw and a degree of @PHENOTYPICFEATURE$ of the lower jaw.	false
+f11d2f333d3124587c054148843bf1c0751fce9c	Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin @DISEASE$ lip, @PHENOTYPICFEATURE$ and high-arched palate.	false
+6f228a70e6d470a654002da35fa5d9f9be4fab76	Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, @PHENOTYPICFEATURE$, long philtrum with thin @DISEASE$ lip, micrognathia and high-arched palate.	false
+3a6e5a7f69ac17842605a5742cfba8ad2b97e643	The ultrasound findings were cystic hygroma, hypertelorism, @PHENOTYPICFEATURE$, low-set ears, flexion contractures of @DISEASE$ and lower extremities and rocker-bottom foot.	false
+ae923e1ba681a3cf6e175e983bc12672b2134f90	The ultrasound findings were cystic hygroma, @PHENOTYPICFEATURE$, micrognathia, low-set ears, flexion contractures of @DISEASE$ and lower extremities and rocker-bottom foot.	false
+c4806f796685909bd719715717149c518747ff48	Surgical treatment of patients with @DISEASE$ @PHENOTYPICFEATURE$ or retrognathia.	false
+be49886dbfbd32fda241ea570e4e049d37e82d04	@PHENOTYPICFEATURE$ and hypopnea syndrome (OSAHS) is characterized by obstruction of upper airway and respiratory disturbance, excessive daytime sleepiness and tiredness.The possible causes are obesity, hypertension, and @DISEASE$ airway malformations,etc.	false
+21f5e29c1b50b86591c61a9c062c8d13552ec17e	@PHENOTYPICFEATURE$ and hypopnea syndrome (OSAHS) is characterized by obstruction of @DISEASE$ airway and respiratory disturbance, excessive daytime sleepiness and tiredness.The possible causes are obesity, hypertension, and upper airway malformations,etc.	false
+b96b36714cd96e4b4c193fe959d69c6a67eae7ee	Obstructive sleep apnea and hypopnea syndrome (OSAHS) is characterized by obstruction of @DISEASE$ airway and respiratory disturbance, excessive daytime sleepiness and tiredness.The possible causes are @PHENOTYPICFEATURE$, hypertension, and upper airway malformations,etc.	false
+a002905ebe712715c49d6ad2eb9c31563a683ba2	Obstructive sleep apnea and hypopnea syndrome (OSAHS) is characterized by obstruction of upper airway and respiratory disturbance, excessive daytime sleepiness and tiredness.The possible causes are @PHENOTYPICFEATURE$, hypertension, and @DISEASE$ airway malformations,etc.	false
+f619c2dea9bedab7ad0390907b34a053e42efe29	Nasal CPAP therapy, @DISEASE$ airway muscle activation, and @PHENOTYPICFEATURE$.	false
+26be427fc1b44f6d6bc0879b4c284b4e481f9f97	Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, @PHENOTYPICFEATURE$, cleft soft palate, a thin vermilion border of the @DISEASE$ lip, and left renal dysgenesis.	false
+42ca8ba6069d5109d70414bf0b75348b4c9b3787	Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a @PHENOTYPICFEATURE$ of the @DISEASE$ lip, and left renal dysgenesis.	false
+1dda5b983f4e0e61840aeaf68543b84ccc3cf22a	@DISEASE$ IIb with @PHENOTYPICFEATURE$.	false
+dc299df045a20525ef0626f8b895706d9e1118e4	We report the case of 23 year-old woman with @DISEASE$ (obstructed hemivagina and ipisilateral renal anomaly) discovered during management for right @PHENOTYPICFEATURE$.	false
+1588b25cebc7321aaa4224c9399c0e6e49e7e3e6	We report the case of 23 year-old woman with @DISEASE$ (obstructed hemivagina and ipisilateral @PHENOTYPICFEATURE$) discovered during management for right renal failure.	false
+faab9e7caeb1abb85f597d01d45f059ee34cbf89	The Herlyn-Werner-@DISEASE$ (HWWS) is a complex congenital malformation, originally described as a triad of symptoms: didelphys uterus, low genital obstruction and unilateral @PHENOTYPICFEATURE$.	false
+cca3e96f8a7195ec25cb9c8fbb15dd07b731e9b9	@DISEASE$ is a rare diagnosis involving the triad of obstructed hemivagina, uterine anomaly, and ipsilateral @PHENOTYPICFEATURE$.	false
+d22e48a40e68d2258d1f39b5d4446caf4361a8e6	@DISEASE$ should be considered among the differential diagnoses in young females with @PHENOTYPICFEATURE$ presenting with pelvic mass, symptoms of acute abdomen, and acute urinary retention.	false
+86dbd5efa5c2f7c5b289c6b794741f04b83ece41	Obstructed hemivagina and ipsilateral renal anomaly syndrome (OHVIRA), formerly known as the Herlyn-Werner-@DISEASE$, is a rare entity characterized by the presence of a uterus didelphys with an obstructed hemivagina cause by a vaginal septum and the association of a @PHENOTYPICFEATURE$ (most commonly renal agenesis) ipsilateral to the obstruction.	false
+2296d13ac2d87a6199ec6cb5afdb3afd3ae52bcb	@DISEASE$ syndrome (OHVIRA), formerly known as the Herlyn-Werner-Wunderlich syndrome, is a rare entity characterized by the presence of a uterus didelphys with an obstructed hemivagina cause by a vaginal septum and the association of a @PHENOTYPICFEATURE$ (most commonly renal agenesis) ipsilateral to the obstruction.	false
+5d399ded6fc047350b4e0faa326e1ffa82c05a88	Pediatric urologists need to be aware of the spectrum of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+ebc24c4422a65dd106c1958cb1639ab39893dcf8	@DISEASE$ (OHVIRA) syndrome is a rare syndrome characterized by M?llerian duct and @PHENOTYPICFEATURE$.	false
+6d830731ce0b7212e47f0a9f7db7e4c69341c66f	To describe the clinical characteristics of patients with Herlyn-Werner-@DISEASE$ (HWWS) and explore the relationship between an obstructive @PHENOTYPICFEATURE$ and pelvic endometriosis.	false
+5b5ccc69e72f6a4c823af2da85041140bb7335a6	Ipsilateral @PHENOTYPICFEATURE$, not ipsilateral renal agenesis, should be considered part of the definition of @DISEASE$.	false
+55467bdfe9360060d33ab7b93b5775351d5d52ee	Case Report: Partial nephrectomy in primary renal sarcoma presenting as @DISEASE$; a rare @PHENOTYPICFEATURE$ with rare presentation managed atypically.	false
+8899bbc7b8d9a9d553f85892adbab37f61d16cfe	Concerning systemic diseases, 11 of our 14 patients presented several cardiovascular risk factors, i.e., @DISEASE$ and arterial hypertension and hypercholesterolemia in one patient; another patient had chronic bronchitis, tachycardia and @PHENOTYPICFEATURE$. Six patients presented coagulation anomalies, and eight patients had arterial hypertension.Doppler sonography revealed normal carotid arteries in nine of ten patients.	false
+3a3fa0d65e4cfa6116f7cbe7188f9094d141f009	Concerning systemic diseases, 11 of our 14 patients presented several cardiovascular risk factors, i.e., @DISEASE$ and arterial @PHENOTYPICFEATURE$ and hypercholesterolemia in one patient; another patient had chronic bronchitis, tachycardia and hypercholesterolemia. Six patients presented coagulation anomalies, and eight patients had arterial hypertension.Doppler sonography revealed normal carotid arteries in nine of ten patients.	false
+175a6ee09c5b434f84cfdf17654558281f33934c	Concerning systemic diseases, 11 of our 14 patients presented several cardiovascular risk factors, i.e., @DISEASE$ and arterial hypertension and @PHENOTYPICFEATURE$ in one patient; another patient had chronic bronchitis, tachycardia and hypercholesterolemia. Six patients presented coagulation anomalies, and eight patients had arterial hypertension.Doppler sonography revealed normal carotid arteries in nine of ten patients.	false
+8de5435cc993599dbf17d75bb546c75a3c47b736	Participants with current, first-onset @DISEASE$ also had more @PHENOTYPICFEATURE$ (B = -1.62%,	false
+2262ee8b3a837bd5a04b0c3d500d788e14cbfcef	Patients with major depressive disorder (@DISEASE$) may experience both psychological and medical complaints, including somatic sensations or @PHENOTYPICFEATURE$.	false
+734f3f04471d6501fc1fa0225f5c8aff28f49eca	The 12-month prevalence of @DISEASE$, somatic disorders and @PHENOTYPICFEATURE$ symptoms, grouped according to location, were determined among 4181 participants from a community sample.	false
+c0b5cf9109c95973f43327239e590256ef34c761	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$, although obesity promotes MDD.	false
+b7b424d1b597a5420f2dbe45bc0496df24f1c1b3	To examine whether lifetime DSM-IV diagnosis of major depressive disorder (@DISEASE$), including age at onset and number of episodes, is associated with @PHENOTYPICFEATURE$ in older persons without dementia.	false
+99cf2d4fd1be7ca853e82c89c2d1ac8424f2a6da	Her symptoms were consistent with @DISEASE$ syndrome, an uncommon cause of @PHENOTYPICFEATURE$.	false
+6941038da533fee75f117230692e11c3e8ade5d0	Our findings suggest that the presence of distinct spatial distribution patterns of @PHENOTYPICFEATURE$ and global FC impairments might be pathological features of @DISEASE$.	false
+9ef2d677181b1c893bd7d98f5750d61f4cf5ca94	Major depressive disorder (@DISEASE$) is a frequent and @PHENOTYPICFEATURE$ mental disorder considered among the five leading causes of disability in Western countries by the World Health Organization.	false
+cb3044a0ede482ed015c2350f8f22e9c1c5f7b4d	This post hoc analysis compared how patients and physicians estimate disease severity and global improvement during 8 weeks of treatment for major depressive disorder (@DISEASE$) with associated nonspecific @PHENOTYPICFEATURE$.	false
+7df768ebb3809b4f023934771d8713bd4b2bd2d0	Following Chambless and Hollon, PDT can presently be designated as efficacious in major depressive disorder (@DISEASE$), social anxiety disorder, borderline and heterogeneous personality disorders, somatoform @PHENOTYPICFEATURE$ disorder, and anorexia nervosa.	false
+47ef4b230e02d7a52da019e33d84dfa8e14c5e96	DRS associated with @PHENOTYPICFEATURE$ or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or @DISEASE$ and chromosomal anomalies such as 12q12 deletion.	false
+a0e89406f1306637e5bbae6f8d61a76afcdc51ae	@DISEASE$ associated with @PHENOTYPICFEATURE$ and disordered neuronal migration.	false
+cfbdbf52f4cd684684240bf6385cfa04f5965a46	Mitochondrial ornithine transporter deficiency, or @DISEASE$, is a metabolic disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma caused by hyperammonemia.	false
+feba4413db8267df9c669a7fc16f0cfda089cc82	@PHENOTYPICFEATURE$ is commonly observed in (hyperornithinemia-hyperammonemia-homocitrullinuria @DISEASE$, an inherited metabolic disorder biochemically characterized by ornithine (Orn), homocitrulline (Hcit) and ammonia accumulation.	false
+b97dc4e2842ae24d9d785e1a964eae16a17335f3	It is presumed that these pathomechanisms may contribute at least partly to explain the neuropathology of cerebellum abnormalities and the @PHENOTYPICFEATURE$ observed in patients with @DISEASE$.	false
+0a230c29640f0e778e1554865a016bde59c2f92e	Patients with mitochondrial ornithine transporter deficiency (or @DISEASE$) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$, and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+187613092330c1c592e7c43186976f607be87a2a	Taken together, our data indicate that redox homeostasis is disturbed by the major metabolites accumulating in @DISEASE$ and that this mechanism may be implicated in the @PHENOTYPICFEATURE$ and cerebellar abnormalities observed in this disorder.	false
+a5ad427dfe2fbed636f3f1a300310a874d084f29	Mitochondrial ornithine transporter deficiency has been called @DISEASE$, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, @PHENOTYPICFEATURE$ and episodic disturbance of consciousness or coma due to hyperammonemia.	false
+d4ffa9082b66b4c1cf08df920a8df1b21c6c07f3	@DISEASE$ is unusual in producing @PHENOTYPICFEATURE$ and retinitis pigmentosa.	false
+415d4bc2965a8467147dcac1da1337cf07678343	CS is characterized by association of @PHENOTYPICFEATURE$, facial trichilemmomas, acral keratoses, papillomatous papules, with increased risk for breast, thyroid and @DISEASE$.	false
+621b5d6cf75a7ba477a21afa688659b50ea6dcd6	The goal of this study was to investigate clinical manifestations of lower extremity @PHENOTYPICFEATURE$ (LEE) after lymph node dissection in patients with primary @DISEASE$.	false
+d2bc219a1574bd1426ba93dafa1fa97ba8fc7dd4	In this chapter, I present ultrasound findings in women with @DISEASE$, endometrial polyps, endometrial hyperplasia, adenomyosis, uterine myomas, including submucous myomas and @PHENOTYPICFEATURE$, and describe ultrasound-based triage of women with postmenopausal bleeding.	false
+f05c7fb1023d3bd162fa983d472c838bcb0688b1	Originally shown to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and @DISEASE$, and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by lipomatosis, @PHENOTYPICFEATURE$, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to include Proteus syndrome and Proteus-like syndromes.	false
+3b3c99f1163dda15486a7f975ee0698a99e1b7fe	Among mutation carriers significant differences from previous reports were found for the frequencies of several clinical features, including @PHENOTYPICFEATURE$, uterine fibroids, benign breast disease, and @DISEASE$.	false
+cb48875247cbf4e2fdc4591c2783067560b84b17	@DISEASE$ presenting with diffuse cutaneous @PHENOTYPICFEATURE$ in a 2-year-old child.	false
+c7b1971560f506317557fb854703ad11bac6fe4a	@DISEASE$ (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and @PHENOTYPICFEATURE$.	false
+53317fb4078ccacb3bdc440a0e1c5ff2d9f9a9e5	The predominant clinical syndrome is a progressive cortical dementia with pyramidal signs, myoclonus and @PHENOTYPICFEATURE$ that closely resemble @DISEASE$.	false
+b689db90013bc2f27b0b7ef5e57c0defe15335ca	The author hypothesized that the use of this procedure to remove a benign @DISEASE$ might result in even less morbidity (transient or permanent facial nerve dysfunction, facial contour disfigurement, Frey's syndrome, and @PHENOTYPICFEATURE$) without increasing the risk of recurrence if only a 1-cm margin of normal parotid parenchyma was removed and if the posterior branches of the great auricular nerve were preserved To test this hypothesis, the author conducted a retrospective study of 30 patients--15 who had undergone the standard partial procedure (2-cm margin with great auricular nerve sacrifice) and 15 who had undergone the modified version (1-cm margin with great auricular nerve preservation).	false
+8a09e777e94f3a8d64e03e360304e6f1e692c303	No data are available, however, on their expression in pulmonary @PHENOTYPICFEATURE$, a benign biphasic tumor consisting of reactive epithelial cells and neoplastic fibromyxoid stroma, cartilage and fat, which shares some morphologic, immunophenotypic, and genotypic features to @DISEASE$ of major salivary glands.	false
+ddb1ba92dcbf4b9f20d2fa380de86e4d09657e25	Mutations in the plectin gene (PLEC1) cause EBS associated with @PHENOTYPICFEATURE$, whereas JEB associated with @DISEASE$ (PA) results from mutations in the alpha6 and beta4 integrin genes.	false
+19771ae5983c75fc72bf97240a257a480c79792b	Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with @PHENOTYPICFEATURE$ and EB with @DISEASE$.	false
+44aa8531574504fa2abe830baaaecef712727874	For 5 years our clinical diagnostic practice has evaluated all women with any type of uSMT for FH-d morphology (defined, at low magnification, as staghorn shaped blood vessels and alveolar pattern @PHENOTYPICFEATURE$ and, at high magnification, as tumor macronucleoli surrounded by a halo and cytoplasmic eosinophilic globules) and, when present, used the pathology report to advise genetic counseling to further evaluate for @DISEASE$ syndrome.	false
+0356f9ab8da7c51eb9fd3b84489ce85ed33fa7b1	Due to accompanying complications (obesity, hyperglycemia, @PHENOTYPICFEATURE$, infertility) patients with HAIR-@DISEASE$ should be monitored and treated.	false
+8a3a84eb75d34d9409bdaae344ffa2d9ae9de8ad	Due to accompanying complications (obesity, @PHENOTYPICFEATURE$, hyperlipidemia, infertility) patients with HAIR-@DISEASE$ should be monitored and treated.	false
+8d756f78a015dbae94e6a2038cd08a33a7ad0455	@PHENOTYPICFEATURE$, @DISEASE$ and uveitis were the most frequent manifestations among them.	false
+0cd0273f8b991c6633ce920c8f2de1479f1c566b	They found that 11 of the 36 patients had at least 1 other chronic or subacute inflammatory disease: Chronic tonsillitis, tuberculous @PHENOTYPICFEATURE$ of the neck, chronic hepatitis B (infectious diseases); @DISEASE$, erythema nodosum (skin lesions); subacute thyroiditis, chronic thyroiditis (autoimmune diseases); Crohn disease, and ulcerative colitis (inflammatory diseases with unknown etiology).	false
+bf679911c14d8287328d3db1af9e2bd7742ce5f2	Cutaneous lesions include pustules, @PHENOTYPICFEATURE$-like lesions, Sweet's-like lesions, @DISEASE$-ike lesions, and pathergy.	false
+f2cde679bd4ab3e614cd18c00ac07b6db8b02365	The authors describe four children with Crohn disease with dermatologic manifestations: @DISEASE$, orofacial involvement, @PHENOTYPICFEATURE$, and idiopathic lymphedema.	false
+f46c6933675c37f6a551f5ac98a488646abea1d8	Newer associations include: keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, Crohn disease and @DISEASE$.	false
+03a7c25ecd364c9fc0446b312ad6ca89e87de7f0	The following EIMs were found: arthritis (CD 33%, UC 21%), aphthous stomatitis (CD 10%, UC 4%), uveitis (CD 6%, UC 4%), @PHENOTYPICFEATURE$ (CD 6%, UC 3%), ankylosing spondylitis (CD 6%, UC 2%), psoriasis (CD 2%, UC 1%), @DISEASE$ (CD and UC each 2%), and primary sclerosing cholangitis (CD 1%, UC 4%).	false
+e6544da5567f122e42e34079b63ca87b99db26e0	There are several reports in the literature of the coexistence of HS with other diseases, including @DISEASE$, PASH syndrome, Adamantiades-Behcet's disease, spondylarthropathy, Crohn's disease, SAPHO, pachyonychia congenita, Dowling-Degos disease, and the keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome.	false
+da22e155fbbdc825bdc531b967c907b03d553043	A number of cutaneous changes are known to occur in the course of inflammatory bowel diseases (IBD), including @DISEASE$, @PHENOTYPICFEATURE$, perianal disease, erythematous eruptions, urticaria, and purpura.	false
+7cd12bf5b3b91e0e57fcb7b6cf7db023f1017df3	Cutaneous lesions include pseudofolliculitis, folliculitis, @PHENOTYPICFEATURE$-like lesions, Sweet's-like lesions and @DISEASE$-like lesions.	false
+6ff3da5e44a917088ee23b187573db9f335d5624	Above all, dermatomyositis, figurate erythemas, erythroderma and a number of bullous dermatoses (e.g., bullous pemphigoid, pemphigus vulgaris and @DISEASE$, Sweet' syndrome, pruritus, prurigo, acanthosis nigricans, Leser-Tr?lat sign, alopecia mucinosa, acquired ichthyosis, Bazex' syndrome, @PHENOTYPICFEATURE$ aquisita lanuginosa) are among the paraneoplastic dermatoses.	false
+d29d3b050ffc12ea420c8cef8749879253c049d8	This review discusses the significance of complement activation for emerging skin diseases and highlights the importance of serological laboratory tests for the detection of complement system activity alterations in skin diseases such as pemphigus vulgaris, bullous pemphigoid, herpes gestationis, @DISEASE$, porphyria, urticaria, angioedema, cutaneous vasculitis, systemic lupus erythematosus, partial lipodystrophy, lichen planus, xeroderma pigmentosum, psoriasis, and recurrent @PHENOTYPICFEATURE$.	false
+549582814d6d4e3d9c4064914f8204acc64a8bc4	@DISEASE$ is the commonest associated pathology of CD, although rare in infancy, it should be considered in any child presenting with @PHENOTYPICFEATURE$ and atypical, chronic rash not responding to simple measures.	false
+b1c629ca86aa407816fc4c248293f59471dc669b	Light microscopy was performed in a nonblinded manner on hair shafts from 65 participants with seven types of ED (hypohidrotic ED, ED-ectrodactyly-cleft lip or palate, @PHENOTYPICFEATURE$-ectodermal defects-cleft lip and palate, Clouston syndrome, Goltz syndrome, Schopf-Schulz Passarge syndrome, and @DISEASE$) and 41 unaffected controls.	false
+f9b33f841a4d1a100b53e79495e81011ee53b635	@PHENOTYPICFEATURE$ in a new family with @DISEASE$.	false
+ade89c52a538da9ddc73a9721a737abc65abc94c	Postoperative @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+440c56be5b944ba77f7f14895453a38913bc7ee5	[Bilateral phrenic nerve @PHENOTYPICFEATURE$, dysautonomia and restrictive cardiomyopathy in a case of @DISEASE$].	false
+da62b33bdfab9c2b1944f86c8fb0609f864bd38d	These conditions include multiple myeloma, plasma cell granuloma, sternocostoclavicular @PHENOTYPICFEATURE$, the @DISEASE$ (plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes), and chronic symmetric plasma cell osteomyelitis of childhood.	false
+37b2fc873a4932cc70da6b3fe365cc3e54725ad5	A case of non-cardiogenic acute @PHENOTYPICFEATURE$ in a patient with @DISEASE$-associated pulmonary arterial hypertension.	false
+aa2fff49a33ebbe8baceef5f3c623fefe5b5a07e	When she was 6 years old, she was diagnosed as having neurofibromatosis and @DISEASE$ because of multiple caf?-au-lait spots, neurofibromas of the skin and @PHENOTYPICFEATURE$.	false
+1e654c498d7327aaa633fea7dec8d126d14b5940	Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association @DISEASE$/epilepsy/@PHENOTYPICFEATURE$ may not be coincidental.	false
+f9e8de522310477628b98a0e13a213f9c5f2f11b	The effect of acute low-tone @PHENOTYPICFEATURE$ (ALHL) on the interaural frequency difference (@DISEASE$) required for perception of binaural beats (BBs) was investigated in 12 patients with unilateral ALHL and 7 patients in whom ALHL had lessened.	false
+8959a66f03b15e88b069c942913b4d3c22192496	One 66-year-old male was found to have the @DISEASE$ @PHENOTYPICFEATURE$.	false
+8f33a0fc5eacbda7db471c54cc65805030af300b	These individuals were clinically reviewed, had a detailed family history taken and, after discussion, had a blood sample taken for testing for the @DISEASE$ @PHENOTYPICFEATURE$.	false
+211e6584cfe74b49a4d5592254d36d81dadc57a9	Influence of @DISEASE$ and @PHENOTYPICFEATURE$ on geometry of the humerus in dogs.	false
+ef9bccee35af8cad72402fde3983558040af9598	Cant? syndrome is characterized by congenital @PHENOTYPICFEATURE$, distinctive facial features, @DISEASE$ and cardiac defects.	false
+b4c7532ee85b8911e376b4ccc759a2e164ae25d3	Three patients with the @DISEASE$ and @PHENOTYPICFEATURE$ syndrome--Cantu syndrome.	false
+a69bd47a03bf36adc480143c78fd3c5a32e7a954	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @DISEASE$, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and @PHENOTYPICFEATURE$.	false
+bb6fc87753551cb04012d36c27f5220a52ca349c	Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive.	false
+54a0a661ce0f46ce5f57bb90c71fd0389cd9abd8	To identify the causative variant in a large consanguineous Pakistani family with severe @DISEASE$ and marked @PHENOTYPICFEATURE$.	false
+65b7a7a2e9f5376b0a776553f396dc95e8ef9381	Cant? syndrome is characterized by congenital @PHENOTYPICFEATURE$, cardiomegaly, and @DISEASE$ and is recognized as a rare syndrome.	false
+c318430a1d814546b9486fc193cfe9f8c015fe80	@PHENOTYPICFEATURE$, type Jansen (JMD), is a rare @DISEASE$ with characteristic radiographic abnormalities.	false
+12e736aceb36e08bb855fed64928e61c49889338	Congenital @PHENOTYPICFEATURE$, cardiomegaly and mild @DISEASE$.	false
+bf25fc4739a99e9145dd2eefbcf3e28a82bb99ca	An unusual combination of syndactylies, @PHENOTYPICFEATURE$, and severe @DISEASE$ was observed in a newborn infant.	false
+4f4c9afd4726ab552f0782865a58242a5c1d2e35	@PHENOTYPICFEATURE$ dysplasia is generally considered to be a lethal @DISEASE$ and most patients die in the neonatal period due to severe respiratory distress.	false
+c6d84083cc94a1176e7df123df8f7cdf10297880	To describe a case of congenital retinal macrovessel complicated by @DISEASE$ associated with contralateral myelinated retinal nerve fibers and retinal @PHENOTYPICFEATURE$ studied with optical coherence tomography angiography (OCTA).	false
+4ab9317fcf372e657a701ed905894587538f7e04	Sixteen cases of MTC were identified, and tissue specimens were immunostained for CA 19-9 and other @DISEASE$ @PHENOTYPICFEATURE$ markers.	false
+e1e6273886d8b272f4bc4b8c4e9346e4791ef8d4	Sixteen cases of @DISEASE$ were identified, and tissue specimens were immunostained for CA 19-9 and other MTC @PHENOTYPICFEATURE$ markers.	false
+fda495ad0d7d69646266b6792cafabf073c2bf14	Calcitonin is a very sensitive @PHENOTYPICFEATURE$ marker in @DISEASE$.	false
+2b021c1bf0617348d383f863cd36eb9f54b0e7fb	@DISEASE$: a rare presentation as a hypervascular @PHENOTYPICFEATURE$.	false
+a4f70826436f581a12b7364f486cde84ee9d4aac	@DISEASE$: a functional peptidesecreting @PHENOTYPICFEATURE$.	false
+e01d5d0f0a761fed97f4895af49d5ff014805deb	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$.	false
+3b972aa8ec01f5e109972d744e29ff89acb7de08	Calcitonin (CT) is the main @DISEASE$ (MTC) @PHENOTYPICFEATURE$ marker.	false
+35457d024b8aae9522de45d83dccef94e55250ba	Calcitonin (CT) is the main medullary thyroid carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ marker.	false
+5edb5f6dc4111365aaaecc9eb731d0c1828b69d9	[@DISEASE$-like @PHENOTYPICFEATURE$ of lung].	false
+542534ebb37548bc78d94dac4ba610a709121ca2	[Familial @DISEASE$ without associated @PHENOTYPICFEATURE$].	false
+cb91021633d272d4eb4ca1ebb03ffc640a800744	[@DISEASE$, a @PHENOTYPICFEATURE$ with many appearances].	false
+bd1fac26f0f3dccf50d2921a104bb13851c79a10	Association between non-@DISEASE$ and secondary hyperparathyroidism have been rarely reported in patients with @PHENOTYPICFEATURE$.	false
+4be253ca5459332edc0c0def12c53db20c6a00d4	Progressive @DISEASE$, @PHENOTYPICFEATURE$, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.	false
+66d6d636bf61d68065e287677878ad1d6011c194	Two new cases of @DISEASE$ with exercise intolerance, hyperlactatemia and @PHENOTYPICFEATURE$, caused by recessive SLC25A4 mutations.	false
+9e54a998c0aff14b115336193782c62e0be52a9d	Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b73d2fda009788373548f22b3e423cf5e09bebe0	[@DISEASE$, @PHENOTYPICFEATURE$ and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].	false
+136fd11f177918b710dbbfd515f278706ccc622f	A primipara affected by late-onset diabetes and sensory @PHENOTYPICFEATURE$ because of @DISEASE$ was hospitalized for threatened preterm delivery.	false
+4d6df274b2a34c2f9c90c1df44e1fbd17a5bf78a	The patient showed @DISEASE$, encephalopathy, lactic acidosis, and @PHENOTYPICFEATURE$ but lacked the stroke-like episode.	false
+c5f1f701c2c545489d4cc55587dd5d4cc42f65c9	Our goal was to perform a systematic review of the literature to demonstrate the prevalence of @PHENOTYPICFEATURE$ identified using cardiac investigations in patients with @DISEASE$ (MM).	false
+54ededa1acc338fd44af795f156ce1225a2032c0	Patients who have @DISEASE$ can present with specific pathological conditions (eg, diabetes mellitus and @PHENOTYPICFEATURE$).	false
+86610f010e11dc3965937494e7cb7a80d6fcec07	This deletion is associated with adult-onset diabetes and @PHENOTYPICFEATURE$, but not with ophthalmoplegia, ptosis, or @DISEASE$.	false
+460d4de2b48e39bed4e9b1b61ee38463140b20e2	We report two sisters (32 and 36 years old) with familial @PHENOTYPICFEATURE$-mutism, progressive external ophthalmoplegia, leukodystrophy and @DISEASE$.	false
+cef162d881da1ecedf3eb4e93e912cc5206b71c6	On the other hand, regardless of the background strain, ASP-deficient mice demonstrate reduced body weight, reduced leptin and reduced adipose tissue mass, suggesting that @DISEASE$ deficiency results in protection against development of @PHENOTYPICFEATURE$.	false
+658125e89a4a5a78876777f03a2cd6b31617a53d	The protective potential of @DISEASE$ deficiency against @PHENOTYPICFEATURE$ and involvement of the leptin pathway were examined in ob/ob C3(-/-) double knockout mice (2KO).	false
+0c89a4dd8e29f2476333b54243a8deff58b18079	@PHENOTYPICFEATURE$ (@DISEASE$) is a rare soft tissue neoplasm generally affecting adolescents and young adults.	false
+2aa23ffdf24b711018db2dbfcedd5ea74b19b6b0	ASP stimulates the synthesis of triacylglycerol in adipocytes, and @DISEASE$-deficient mice are resistant to diet-induced @PHENOTYPICFEATURE$.	false
+cb11347e96ed619907c6e09517680d7a1bec11af	The present study investigated ASP levels in mouse models of @PHENOTYPICFEATURE$ and leanness and the effect of @DISEASE$ deficiency in C3 knockout (C3KO) mice on adipose tissue morphology.	false
+cd5927a4714e04f888a1352caaa48cad1dacaccc	@DISEASE$ (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural @PHENOTYPICFEATURE$, conductive and sensorineural hearing loss, and cleft lip.	false
+18f7c8a758889672cfab2dbc5789bf805d0df691	[@DISEASE$ with systemic and localized @PHENOTYPICFEATURE$].	false
+b86eac592841df18dc0a55e40ad27076050b5ff1	Consecutive patients with @DISEASE$ were subjected to neurological evaluation including Glasgow Coma Scale, focal weakness, @PHENOTYPICFEATURE$, and reflex changes.	false
+c8f8705a40101a93c195cfef0c2127328f2d44c2	During the four epidemics, the diagnosis of JE was basically on identical clinical presentation of acute encephalitic syndrome (@DISEASE$) consisting of (1) abrupt onset of fever, headache, and AS, (2) dystonias and various @PHENOTYPICFEATURE$, (3) opsoclonus and gaze palsies, (4) CSF findings, and (5) the presence of residual neuropsychiatric and neurological features in the survivors.	false
+a364c1b3a25e4ba5fb2b0b71875dcc7cb84d399b	@DISEASE$ or glutaric acidemia type I (GA I) is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of predominantly glutaric (GA) and 3-hydroxyglutaric (3OHGA) acids and clinically by severe neurological symptoms and structural brain abnormalities, manifested as progressive @PHENOTYPICFEATURE$ and acute striatum degeneration following encephalopathic crises, whose pathophysiology is still in debate.	false
+31f5a4a35c6da0e586d1be2308039f8f16be1f56	@DISEASE$ (GDD) is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of glutaric, 3-hydroxyglutaric (3-OHGA) and glutaconic acids and clinically by severe neurological symptoms and @PHENOTYPICFEATURE$ whose pathophysiology is poorly known.	false
+f78a51abfa608c2eea6345550e3f6da59ff6fd29	[Thymic @PHENOTYPICFEATURE$, autoimmune neutropaenia and @DISEASE$].	false
+d5f4d928415c8a41280e058ca73decfe9446e0c2	This is an unusual case of EBV superinfection on pre-existing @DISEASE$ with early @PHENOTYPICFEATURE$, which caused enhancement of the autoimmune disease process and resulted in severe hepatic decompensation and jaundice.	false
+48ddd3202dc27a296ea37e805f8d342ddea00cf6	Three patients with large pleural effusions, encephalitis, hemiplegia, hepatitis, @DISEASE$ and @PHENOTYPICFEATURE$ are discussed to highlight the many varied presentations associated with this infection.	false
+d4dedc09cd4a6d9a80fecd60514f358329ccd6c5	Herein, we report a 2-year-old patient with young onset recurrent fever, atypical facies, widespread skin lesions, generalized lymphadenopathy, hepatosplenomegaly, @PHENOTYPICFEATURE$, hypertrglyceridemia, lipodystrophy, and @DISEASE$.	false
+c8a44f5a125e44a8500833d426484ea5d8847876	@DISEASE$ and @PHENOTYPICFEATURE$ of the reticuloendothelium.	false
+ec2c59e6844127eda2bf974d1ce200580f22df73	Plasma exchange treatment in @DISEASE$ of the warm antibody type with @PHENOTYPICFEATURE$.	false
+17d6bb2e69faf2b431c18951e57000c60752efc6	Anti-ssDNA and @DISEASE$ were frequently found together and both were associated with more extensive skin disease with @PHENOTYPICFEATURE$.	false
+e96df26589599a45a92014066a267d9851b27660	Several reports revealed that about 10% of MDS patients have clinical autoimmune disorders like skin @PHENOTYPICFEATURE$, rheumatic disease, or @DISEASE$.	false
+d0decbac1e1636654c0f2d0f33d36f96b373f3c5	Other features included @PHENOTYPICFEATURE$, malabsorption, joint hypermobility and dislocation, congenital hypothyroidism, idiopathic thrombocytopenic purpura, and in one patient, @DISEASE$ and hypogammaglobulinemia.	false
+41631047892b5ca69e5898d165f8cf856fe7ee3a	@DISEASE$ and ovarian @PHENOTYPICFEATURE$.	false
+1e13e327e84fe9fad3443d77e8160c74da958505	@DISEASE$ patients show @PHENOTYPICFEATURE$, nausea or vomiting, but they are usually alert and lucid despite the severe acidosis.	false
+394c5706f07dfdeb9f905e1bac628677589dc8c2	We describe a nine-year-old child with @DISEASE$ following viperine snake bite and renal biopsy revealed pigment cast @PHENOTYPICFEATURE$, ATN and medullary angiitis.	false
+9d3b0d2a18aad3bde71061a3e68eed5fa8222d59	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ which presents typically after the age of 50 with progressive eyelid drooping and an increasing difficulty in swallowing.	false
+f739ca0e413921a7a7e0d627aff429fcce465120	@DISEASE$ (OPMD) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ which presents typically after the age of 50 with progressive eyelid drooping and an increasing difficulty in swallowing.	false
+7b1e2b823de84808e11e9a814b62fa9e283d7139	Oculopharyngeal muscular dystrophy (@DISEASE$) is a rare autosomal dominant @PHENOTYPICFEATURE$ with late onset and slow progression.	false
+f1bde03adf92fdaee326ae40f2b263acdc897327	@DISEASE$ (OPMD) is a rare autosomal dominant @PHENOTYPICFEATURE$ with late onset and slow progression.	false
+ea804e2a5d67c6e565e9ba236c1f77811b80a9b2	The final diagnoses were: ocular @PHENOTYPICFEATURE$, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, mitochondrial myopathy, @DISEASE$.	false
+3e0d65ae245f9a2b77ee546039bcfe15e74e62cf	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ characterized by progressive ptosis, swallowing difficulties, and proximal limb weakness.	false
+89abf872b64e081752db61e54279931ad667d822	@DISEASE$ (OPMD) is a late-onset autosomal dominant @PHENOTYPICFEATURE$ characterized by progressive ptosis, swallowing difficulties, and proximal limb weakness.	false
+a16dd3b6e8045b3dee4fe6e4d200744d337ea387	@DISEASE$ (OPMD) is a late onset autosomal dominant @PHENOTYPICFEATURE$ with a high prevalence in the French Canadian population.	false
+f919c0a579794e490e7f132197b1f1245dd0f202	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late onset autosomal dominant @PHENOTYPICFEATURE$ with a high prevalence in the French Canadian population.	false
+eacd52bed68195ae7f47597685c59914f4aa7d50	@DISEASE$ (OPMD) is a late adult onset, autosomal dominant @PHENOTYPICFEATURE$ characterized by ptosis and dysphagia.	false
+afc1dadf39e2a748497982f3934e5d83b9342b94	Oculopharyngeal muscular dystrophy (@DISEASE$) is a late adult onset, autosomal dominant @PHENOTYPICFEATURE$ characterized by ptosis and dysphagia.	false
+c7b0dfdd30c00fbadc36ee34922e3044f5425abd	Oculopharyngeal muscular dystrophy (@DISEASE$) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by late onset ptosis, proximal muscle weakness and swallowing difficulties.	false
+444f83a1fb20e7cfb1f7c3459e981cdb415a6d13	@DISEASE$ (OPMD) is an autosomal dominant @PHENOTYPICFEATURE$ characterized by late onset ptosis, proximal muscle weakness and swallowing difficulties.	false
+57ddc03deed8a1318d993e29e9cadcc5d6af2b88	These conditions occur in chronic progressive external ophthalmoplegia, @DISEASE$, mitochondrial myopathy, myotonic dystrophy, and ocular @PHENOTYPICFEATURE$, among others.	false
+a7a6c6da240dafa94b209caa33c81a77b3b9cdf2	@DISEASE$: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, @PHENOTYPICFEATURE$ and increased dosage of distal chromosome 15q.	false
+e94e57526913709b305f67f5f5c5c7be52e44d2c	Mutations in an essential enzyme of cholesterol biosynthesis, NAD(P)H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided @DISEASE$ and in a sixth patient with bilaterally, symmetric nevi and mild @PHENOTYPICFEATURE$, but not with CHILD syndrome as originally defined.	false
+b4921a96f7b8750ddebb68934e5800781115044b	Mutations in an essential enzyme of cholesterol biosynthesis, NAD(P)H steroid dehydrogenase-like [NSDHL], have been reported in five unrelated patients with right-sided CHILD syndrome and in a sixth patient with bilaterally, symmetric nevi and mild @PHENOTYPICFEATURE$, but not with @DISEASE$ as originally defined.	false
+c2fc3d7f9b8967f7494402752965568895572ece	@DISEASE$ is a male lethal X-linked dominant disorder characterized by asymmetric skin and @PHENOTYPICFEATURE$ in affected females.	false
+4c43d54ded8c34187396ba0448c5e38d2f2044df	We identified a new case of @DISEASE$ and report the characteristics of a new pathogenic de novo @PHENOTYPICFEATURE$ (c.112C>T, pGln38X) in the TIMM8A gene.	false
+eaf4c9742d282a6a43e7dc4d79201783c078bffd	The @DISEASE$ (MTS), a neurodegenerative syndrome characterized by progressive sensorineural hearing loss, dystonia, mental retardation and @PHENOTYPICFEATURE$, is a mitochondrial disease caused by mutations in the deafness/dystonia peptide 1 (DDP1) gene.	false
+28752ffc3facf13cbd80c5643ba2074eddddef64	@DISEASE$ (MTS) is an X-linked disorder characterized by childhood-onset progressive deafness, dystonia, spasticity, mental deterioration, and @PHENOTYPICFEATURE$.	false
+4a6f9ef973a0a66b45663a2c82828da570c9675b	@DISEASE$ (LGS) is a severe epileptic encephalopathy, which starts in childhood with various @PHENOTYPICFEATURE$ types.	false
+1e6bb491aecbdbbc9da172f127157c48e16d9051	Lennox-Gastaut syndrome (@DISEASE$) is a severe epileptic encephalopathy, which starts in childhood with various @PHENOTYPICFEATURE$ types.	false
+d146624578728548fa9bd54dee50fdc3af81908a	We observed @PHENOTYPICFEATURE$ resembling infantile spasms in patients with Lennox-Gastaut syndrome (@DISEASE$).	false
+e32379cd5d825a2504955a455222813cca7432f4	We observed @PHENOTYPICFEATURE$ resembling infantile spasms in patients with @DISEASE$ (LGS).	false
+3b538ad5d34f4d337f583d533114e0dd3b0cc34a	Tuberous sclerosis, @PHENOTYPICFEATURE$ and @DISEASE$: mere chance or a new syndrome?	false
+d3b3119ce77c6d67df9874c8473db0124fc49ee1	Management of @PHENOTYPICFEATURE$ in @DISEASE$.	false
+11558bc28ce48d51af30ee76f34237db4ca41ee9	Two patients discontinued @DISEASE$ due to @PHENOTYPICFEATURE$ aggravation.	false
+50d49118eea6eade3cdc4d150c936b9a5053066f	@DISEASE$ (LGS) is a rare but debilitating pediatric epileptic encephalopathy characterized by multiple intractable @PHENOTYPICFEATURE$ types.	false
+ffd1f3da6b3295fa68e51f86921fb13add5019f2	Lennox-Gastaut syndrome (@DISEASE$) is a rare but debilitating pediatric epileptic encephalopathy characterized by multiple intractable @PHENOTYPICFEATURE$ types.	false
+f98a4f9515a4b49be357abb0c14cc290a439aa64	It is used to treat partial-onset seizures and @PHENOTYPICFEATURE$ associated with @DISEASE$ (LGS) in adult and children.	false
+af8f610d47dc8e63e3c7a0172ac56f9c5240b4ea	It is used to treat partial-onset seizures and @PHENOTYPICFEATURE$ associated with Lennox-Gastaut syndrome (@DISEASE$) in adult and children.	false
+1ba9390f48faf82de631738fefab37c7592a81ba	It is used to treat partial-onset @PHENOTYPICFEATURE$ and seizures associated with @DISEASE$ (LGS) in adult and children.	false
+2bca51e50d722f86c12e1c05acdd50fbef4a3203	It is used to treat partial-onset @PHENOTYPICFEATURE$ and seizures associated with Lennox-Gastaut syndrome (@DISEASE$) in adult and children.	false
+ef00aace82a3bb4e67ac22aa3d47d24c1c7fdb40	Eating @PHENOTYPICFEATURE$ in @DISEASE$.	false
+feb0c4eb95470554ed203b6dcb63be58618e286e	Electroclinical @PHENOTYPICFEATURE$ in @DISEASE$.	false
+cf6aa6867db2d4b91d18d51026177a72890a4987	Furthermore, although seizures associated with @DISEASE$ may occur de novo, the appearance of core LGS seizures may be preceded by prolonged periods of other @PHENOTYPICFEATURE$ types, including myoclonic seizures, partial seizures, or infantile spasms.	false
+544e434fcb2dcd52c172b44ba9eef3359baf5ae0	Furthermore, although seizures associated with LGS may occur de novo, the appearance of core @DISEASE$ @PHENOTYPICFEATURE$ may be preceded by prolonged periods of other seizure types, including myoclonic seizures, partial seizures, or infantile spasms.	false
+b4417966fe1f25c651701ff887605ff931e01d91	Furthermore, although seizures associated with LGS may occur de novo, the appearance of core @DISEASE$ seizures may be preceded by prolonged periods of other @PHENOTYPICFEATURE$ types, including myoclonic seizures, partial seizures, or infantile spasms.	false
+87581bdd68b7ae1a7726be49f06c285f157fb1b8	Furthermore, although @PHENOTYPICFEATURE$ associated with LGS may occur de novo, the appearance of core @DISEASE$ seizures may be preceded by prolonged periods of other seizure types, including myoclonic seizures, partial seizures, or infantile spasms.	false
+8c4a94e2d32578ef96080aa07e383c3265030d97	Furthermore, although @PHENOTYPICFEATURE$ associated with @DISEASE$ may occur de novo, the appearance of core LGS seizures may be preceded by prolonged periods of other seizure types, including myoclonic seizures, partial seizures, or infantile spasms.	false
+e496b382bc861404468e0160eaed15cab212ec69	Furthermore, although seizures associated with @DISEASE$ may occur de novo, the appearance of core LGS @PHENOTYPICFEATURE$ may be preceded by prolonged periods of other seizure types, including myoclonic seizures, partial seizures, or infantile spasms.	false
+ea1eae42d12c81b64a74d54a39760a3df8223585	It has exhibited many pharmacological activities in chronic heart failure, @DISEASE$, diabetes mellitus, carcinomas, autoimmune disease, @PHENOTYPICFEATURE$, asthma, periodontal disease and thyroid disorders.	false
+016f1bd634c7f5d453627968507dc856ae6a399d	These mice also show up-regulation of specific catecholamines and @PHENOTYPICFEATURE$, two features detected in a low percentage of @DISEASE$ patients.	false
+d5cf7b9a131d7c7155736338c66386d8a7d294b1	Slow saccades, postural/intention tremor, @PHENOTYPICFEATURE$, and decreased deep-tendon reflexes are valuable neurological signs for clinical suspicion of @DISEASE$ (SCA2).	false
+fe697d6f06eb6b628abdd3c21afbd8a54129d91f	@DISEASE$ (SCA2) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia, supranuclear ophthalmoplegia, and @PHENOTYPICFEATURE$.	false
+0b79882cd84f249ef7278ed44b3b58c5f77ee34c	@DISEASE$ typically presents with progressive cerebellar symptoms, slow ocular saccades, and @PHENOTYPICFEATURE$.	false
+a41a793e16d3137ba79bfe444fec6699e09b21e7	@DISEASE$ (SCA2) is an autosomal dominant genetic disease characterized by cerebellar dysfunction associated with slow saccades, early hyporeflexia, severe tremor of postural or action type, @PHENOTYPICFEATURE$, cognitive disorders, and other multisystemic features.	false
+cb32eb8a2828f73193192aa9b63fe09fa7d90562	@PHENOTYPICFEATURE$ is frequent in @DISEASE$ (SCA2), but the pattern and characteristics of nerve involvement are still an unsettled issue.	false
+7db77fc7ba4fc47a65a15f86ac27321b27cc52a4	@DISEASE$ (SCA2) is an autosomal dominant cerebellar ataxia characterized by a progressive cerebellar syndrome associated to saccadic slowing, @PHENOTYPICFEATURE$, cognitive disorders, and other multisystem features.	false
+3b921ab8e26dcf70a889698899816020c9cba017	@DISEASE$ (SCA2) is a rare autosomal dominant progressive degenerative disease of the nervous system, which is characterized by a progressive cerebellar syndrome associated with saccadic eye scan, @PHENOTYPICFEATURE$, cognitive disorders, and other multisystem features.	false
+d7f303370c46a285e7a0d027e1aee46549a68a0c	@DISEASE$ (SCA2) is a progressive neurodegenerative disorder, characterised by ataxic gait, slow saccades and @PHENOTYPICFEATURE$.	false
+156b1947565af8a1b7a65b7821d8f928d1f7d308	@DISEASE$ (SCA2) is a @PHENOTYPICFEATURE$ disorder, characterised by ataxic gait, slow saccades and peripheral neuropathy.	false
+db25cc42423f899dc48a2abe04165ed234f64850	Persons with hepatic outflow obstruction due to @PHENOTYPICFEATURE$, @DISEASE$, cancer, or liver transplantation were excluded.	false
+9528e00c564c0aee3356e33cd7d9988bba1659d1	The drug safety program in psychiatry AMSP (Arzneimittelsicherheit in der Psychiatrie) surveyed a population of 122,562 patients between 1993 and 2000, and documented 129 especially severe or uncommon @PHENOTYPICFEATURE$ disorders (IMD): 9 episodes of severe acute dyskinesia, 32 of severe Parkinsonism, 5 of especially severe akathisia, 16 of 'atypical dyskinesia', 38 of Pisa syndrome, 6 of catatonic neuroleptic syndrome, 15 of @DISEASE$, and 8 of tardive dyskinesia.	false
+8d2a3456849f15643d76fd9e306e0ba812ce9f77	Coexistence of @DISEASE$ and a hyperosmolar @PHENOTYPICFEATURE$ state.	false
+7bae9d556027ff00d0e4aad48f8a22de43cd7b34	We describe here a case of olanzapine associated weight gain, @PHENOTYPICFEATURE$ and @DISEASE$ in a 64 year-old woman with a significant medical history.	false
+dd8ca332b2c288dfcbc48dc19754ba68f2e565a8	Typical antipsychotics often combine efficacy in treating antipsychotic illnesses with a side effect profile that can affect every system of the body and range from the annoying-photosensitivity and jaundice, for example-to the disabling-seizures and @PHENOTYPICFEATURE$, among others-to the potentially fatal-agranulocytosis and @DISEASE$.	false
+032585fd2f1f176e70b31bcb03fdecde04761a65	Olanzapine associated weight gain, @PHENOTYPICFEATURE$ and @DISEASE$: case report.	false
+c0adc12ec43fbc9403395d1053088e0bdddbf6c2	Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and @PHENOTYPICFEATURE$ with molar tooth sign consistent with the diagnosis of @DISEASE$.	false
+0f08022fb046d8a19966450ab08ae9ffa2d42ab9	@DISEASE$ or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by @PHENOTYPICFEATURE$.	false
+4835f795d631ec16b29137b1f78b712be2791cf7	@DISEASE$ (VPS) or oral-facial-digital syndrome type VI (OFDS-VI) is a rare autosomal recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by @PHENOTYPICFEATURE$.	false
+8d5ac34146aea166b5792c25a7f543e66a0b4870	Megalencephalic polymicrogyria syndromes include @DISEASE$-capillary malformation and megalencephaly-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$.	false
+0f50b5111f0af5ae329b31ccf2098604448b8b26	Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and @DISEASE$-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$.	false
+2cbab019bf31f848d3c38b279742e511ca8041a6	@DISEASE$-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome: a case report.	false
+82ccbb66c63f2d152477a1b0210941cb2305b305	Activating germ-line and somatic mutations in AKT3 (OMIM 611223) are associated with megalencephaly-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome (MPPH; OMIM # 615937) and @DISEASE$-capillary malformation (MCAP; OMIM # 602501).	false
+14be3419bcc6c7d6ab6e4d1c1e7e791810185c0e	Activating germ-line and somatic mutations in AKT3 (OMIM 611223) are associated with @DISEASE$-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome (MPPH; OMIM # 615937) and megalencephaly-capillary malformation (MCAP; OMIM # 602501).	false
+472ddbbbcce6ae9f71feae962de9e9336fce63d5	The possible overlap between @DISEASE$-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome and other similar conditions is discussed.	false
+36b5b43cda027971bc3ed6b7829ae0eceed4d639	The patient's clinical and radiologic findings fit the classic description of @DISEASE$-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ syndrome.	false
+254826e49803079fcef663b2501018224895d0d5	Megalencephaly-capillary malformation (MCAP) and @DISEASE$-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic @PHENOTYPICFEATURE$ disorders associated with markedly enlarged brain size and other recognizable features.	false
+72a4fbb179611b3ee4fab9b3117ee3e3bb908e35	@DISEASE$-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features.	false
+70221e03bf868929cd407173f25e33177439f7dc	@DISEASE$-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic @PHENOTYPICFEATURE$ disorders associated with markedly enlarged brain size and other recognizable features.	false
+9372b2131eba42bf7c06d2e942239752121ad7dd	Megalencephaly-capillary malformation (MCAP) and @DISEASE$-polymicrogyria-polydactyly-@PHENOTYPICFEATURE$ (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features.	false
+5df01dc9d3d59f0e4727ec065fecf36e5dc24a60	The @DISEASE$-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain @PHENOTYPICFEATURE$ (megalencephaly).	false
+bd7a5dec544156aa0412117fe09597c83faa4436	The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and @DISEASE$-capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain @PHENOTYPICFEATURE$ (megalencephaly).	false
+78c635635750b2b809dc613c280b03b982d0c4b6	We report a cohort of 6 children with megalencephaly-capillary malformation (MCAP) and @DISEASE$-polydactyly-polymicrogyria-@PHENOTYPICFEATURE$ (MPPH) syndromes who developed clinically significant hypoglycaemia.	false
+b6fc533095bdb146b51adb8d2ccf6cb52b4a5ab4	We report a cohort of 6 children with @DISEASE$-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-@PHENOTYPICFEATURE$ (MPPH) syndromes who developed clinically significant hypoglycaemia.	false
+96c26794a13a0c0bb21f186d0ea71c03fa6eb32a	@DISEASE$-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain @PHENOTYPICFEATURE$ and abnormal brain and body morphogenesis.	false
+747e3c21d7499ae7e2c58dbd294b150ca3925e0a	@DISEASE$-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-@PHENOTYPICFEATURE$ (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.	false
+976bea654ff995550495d3e5b9df113e405bc581	Megalencephaly-capillary malformation (MCAP) and @DISEASE$-polydactyly-polymicrogyria-@PHENOTYPICFEATURE$ (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.	false
+d92d3db463f2ce1d6a6432785e306d874512b5fb	Megalencephaly-capillary malformation (MCAP) and @DISEASE$-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain @PHENOTYPICFEATURE$ and abnormal brain and body morphogenesis.	false
+e3b43a28495fa06999442352991d2f91ab5c1015	Two megalencephaly (MEG) syndromes, @DISEASE$-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly-@PHENOTYPICFEATURE$ (MPPH), have recently been defined on the basis of physical and neuroimaging features.	false
+a4cffae4ec0b64192b3321c9a41fe07040056a30	Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and @DISEASE$-polymicrogyriapolydactyly-@PHENOTYPICFEATURE$ (MPPH), have recently been defined on the basis of physical and neuroimaging features.	false
+2af84d551a40491069294cc49c0af6d6de9d104c	Loss of function variants in the PCDH15 gene can cause @DISEASE$, an autosomal recessive disease associated with profound congenital hearing loss, @PHENOTYPICFEATURE$, and retinitis pigmentosa.	false
+fc4c5db095dcbe0a8d2699bbd97d23cf65df702d	Here we show that, in a transgenic mouse model of @DISEASE$xTg-AD mice, there was a marked deficit in neurogenesis and neuroplasticity, which occurred before the formation of any neurofibrillary tangles or A? plaques and was associated with @PHENOTYPICFEATURE$.	false
+76f3ca57667aa5cc1329102407440fac06dab802	This novel TRPC7 gene could be a candidate gene for genetic disorders such as bipolar affective disorder, nonsyndromic hereditary @PHENOTYPICFEATURE$, @DISEASE$, and holoprosencephaly, which were mapped to this region.	false
+ec494d12d2c68dcc50b5f957b19bfd63553462b1	The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic @PHENOTYPICFEATURE$, @DISEASE$, holoprosencephaly, and bipolar affective disorder.	false
+5541a7891b7d56b8a403ff574629096702ceafc6	We review the advantages and limitations of hyaluronc acid, a biomarker, used to manage patients with chronic viral hepatitis B or C infection, non-alcoholic fatty liver disease, HIV-HCV coinfection, alcoholic liver disease, primary biliary cirrhosis, @PHENOTYPICFEATURE$, @DISEASE$ and cystic fibrosis.	false
+3dd65f80f8d81ef47a0f0ef9d8666114a2655c5b	Expansion of the @DISEASE$ phenotype associated with de novo @PHENOTYPICFEATURE$ and mosaicism.	false
+53e9011eb817de5e073d02c35615a775932b1ce9	These twenty patients had previously shown long-term resistance to usual neuroleptics but three out of them met the diagnosis of @PHENOTYPICFEATURE$ or @DISEASE$ (F.84.3-ICD 10).	false
+0cd363cc01f9c3bd1cd191c319a1801ffdd2f3ac	Black diaphragm @DISEASE$ intraocular lens for aniridia and @PHENOTYPICFEATURE$.	false
+1fc1aab673ce9ea4c3aae919c8a9b2d9a0512f2d	Black diaphragm aniridia intraocular lens for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+05cd9edc48f3bbd2f88c9d73017d7419a6ee8afa	Mutation screening for oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$ was also performed, but the results were negative for both.	false
+fc437aa538f3a790cb9319c40500f7611fedd645	The causes of such defects included congenital @DISEASE$, traumatic aniridia, and oculocutaneous @PHENOTYPICFEATURE$.	false
+2a1bc3f1f8a3a6ff9ba5bdf504a7383f1eb160d3	The causes of such defects included congenital aniridia, traumatic @DISEASE$, and oculocutaneous @PHENOTYPICFEATURE$.	false
+27b9f9dfe8fdd24e7229c2aa39eee9cb117bab3b	Artificial iris contact lenses eliminate para-axial rays in monocular diplopia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+8f3b8f2dd0f3b58aa58d9ada901265d440b9735e	Cosmetic custom designs are described for the treatment of @DISEASE$, @PHENOTYPICFEATURE$, amblyopia, and corneal disfigurement.	false
+bf7989146eedd5705ea5e605a5094df0509c1371	Students with @PHENOTYPICFEATURE$ and @DISEASE$ seem well suited for this type of aid.	false
+5ad80a625a22522b8985053586c1b078ecb0fe71	Combined cataract surgery and @DISEASE$ ring implantation in oculocutaneous @PHENOTYPICFEATURE$.	false
+cc5d432bae30cf63e3d7a9ab1b9faaa634118a09	Macular thickness in 13 children with @PHENOTYPICFEATURE$ and three children with @DISEASE$ was measured with OCT.	false
+3829d58d1520fe1792cdd5e076e9aacb21e95811	Two each were attributable to complete @PHENOTYPICFEATURE$, @DISEASE$, congenital nystagmus and bilateral retinoblastoma.	false
+d7444ec6bd0561d0dc0495d6cce8624124c4fac5	Foveal hypoplasia was associated with @DISEASE$ in 2 patients, @PHENOTYPICFEATURE$ in 3 patients and keratoconus in 1 case.	false
+8f229a94553e832e608104633323fac7cfe6083e	@PHENOTYPICFEATURE$ syndrome in patient with @DISEASE$.	false
+7bcdcce69197ca04cf15695e0e479a397768ff7b	We describe a case of genetic Creutzfeldt-Jakob disease (@DISEASE$) with @PHENOTYPICFEATURE$ at the onset.	false
+493b5423f39ce8542fedcfe00e0b8934b09850e9	We describe a case of genetic @DISEASE$ (CJD) with @PHENOTYPICFEATURE$ at the onset.	false
+a9968609fac414e31150acaff82a3a380e9c6cd0	Only three cases of @DISEASE$ with @PHENOTYPICFEATURE$ at onset have been published: one sporadic, associated with symptoms suggestive of polyneuropathy; and the other two familial, with the E200K mutation.	false
+870cce847b473cadc3d8073ccb0271fdd30e90bf	@PHENOTYPICFEATURE$: an unusual onset of genetic @DISEASE$.	false
+5b243af279fc111edf032d8f5a57604d11c21b42	The results showed that hyperopia was found in 2 patients (12.5%), @PHENOTYPICFEATURE$ in 2 patients (12.5%), @DISEASE$ patients (12.5%), and blepharitis in 1 (6.3%) patient.	false
+3adf83ca8193007a793cb4f6cb93665dc83f3552	Mutations in the @DISEASE$ (RP2) gene are associated with X-linked RP, which is a phenotypically heterogenic form of @PHENOTYPICFEATURE$.	false
+f8e8ab8bc86ba72db314cea99c90b8cfa55638a6	[A patient with cerebellar ataxia, @PHENOTYPICFEATURE$ and @DISEASE$: Boucher-Neuh?user syndrome].	false
+b9a50a293d393afb0e29b9291288ecdde70fafc9	Some of the mechanisms underlying protection against this disease are described in this review for hemoglobin-inherited disorders (thalassemia, sickle-cell trait, HbC and HbE), erythrocyte polymorphisms (ovalocytosis and Duffy blood group), enzymopathies (G6PD deficiency and @DISEASE$) and immunogenetic variants (HLA alleles, complement receptor 1, NOS2, @PHENOTYPICFEATURE$ necrosis factor-? promoter and chromosome 5q31-q33 polymorphisms).	false
+15a02f57a2ca7c44000641f473618ae30d773d42	This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, @PHENOTYPICFEATURE$ and Ophthalmoparesis and it implies that this disorder may actually be a variant of @DISEASE$.	false
+af24501da1c0086c1d3ccaf06ce3bccb8202a3ca	The dystrophin associated proteins (DAPs) are good candidates for harboring primary mutations in the genetically heterogeneous autosomal recessive @PHENOTYPICFEATURE$ (@DISEASE$).	false
+36df5d6fcd5c94483cee714d6c3a3da592a76c56	Here we present genetic and functional evidence implicating the novel A178D missense mutation in titin as the cause of a highly penetrant @DISEASE$ with features of @PHENOTYPICFEATURE$.	false
+81bafd930cf8cda952db8184ea30a92dbc142bde	Isolated @PHENOTYPICFEATURE$ is a @DISEASE$ in which a variety of supraventricular and ventricular arrhythmias could be observed.	false
+fd87c8a3aeb830b8776f1ca36c9489d1a8f2d6b0	@DISEASE$ associated with contralateral @PHENOTYPICFEATURE$.	false
+bf7237e88e83d2b42f041a026c69c2f36f561c74	We performed a literature search in PubMed using the following MeSH terms, scleroderma, systemic sclerosis, localized scleroderma, localized scleroderma "en coup de sabre", @DISEASE$, @PHENOTYPICFEATURE$, memory, seizures, epilepsy, headache, depression, anxiety, mood disorders, Center for Epidemiologic Studies Depression (CES-D), SF-36, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), Patient Health Questionnaire-9 (PHQ-9), neuropsychiatric, psychosis, neurologic involvement, neuropathy, peripheral nerves, cranial nerves, carpal tunnel syndrome, ulnar entrapment, tarsal tunnel syndrome, mononeuropathy, polyneuropathy, radiculopathy, myelopathy, autonomic nervous system, nervous system, electroencephalography (EEG), electromyography (EMG), magnetic resonance imaging (MRI), and magnetic resonance angiography (MRA).	false
+6ea45270ed873ef3f694598f5a8f5708f7b45a95	We report the case of a preterm female infant who was diagnosed with the infantile form of @DISEASE$ due to a lack of PFK activity in her muscles, manifesting at a corrected age of 1 month as floppy infant syndrome, congenital joint contracture, @PHENOTYPICFEATURE$ and duplication of the pelvicalyceal system.	false
+07e27a5e8ca5d716d8e4085e1fe833930d5cb761	Zika virus (ZIKV) has caused major concern globally due to its rapid dissemination and close association with @PHENOTYPICFEATURE$ in children and Gullian-@DISEASE$ in adults.	false
+171cef50a84ec990dd52d8e0b765e30a2cc42149	The ability of the virus to cross the placental barrier and the blood brain barrier (BBB) has been associated with birth defects such as @PHENOTYPICFEATURE$, ocular defects, and Guillian @DISEASE$ (GBS).	false
+0f6f47f1cad9bb29cab531f7f870d40b1ad6d894	Foetal @PHENOTYPICFEATURE$, Gillian @DISEASE$ and other neurological and autoimmune syndromes have been reported in areas where Zika outbreaks have occurred.	false
+457943b1b257506b135aed3200e7ecabe5901180	Patients with symptom onset before age 5 are more likely to have a gibbus, @PHENOTYPICFEATURE$, and pneumonia, whereas patients with symptom onset above age 5 are more likely to have @DISEASE$, myelopathy, and glaucoma.	false
+5ce66f496ad4379fac627fcce6e90b84e19adaf2	Presenting symptoms included peripheral synovitis or unilateral shoulder pain (3 patients), lower leg pain (3 patients), @DISEASE$ (1 patient), and @PHENOTYPICFEATURE$ (1 patient).	false
+2902729e41ba2386917fabdebcfb03ea1564e0c1	High intake of this vitamin is found in patients with premenstrual syndrome, @DISEASE$, pregnancy associated @PHENOTYPICFEATURE$, decreasing homocysteine levels and improving cognitive function.	false
+534f861e90e63805cdfee1dd11ca5baf98659c53	The study collects a substantial amount of psychological and physiological data investigating all kinds of determinants that might interfere with general well-being during pregnancy and postpartum, with special attention to the effect of maternal mood, pregnancy-related somatic symptoms (including @PHENOTYPICFEATURE$ (NVP) and @DISEASE$ (CTS) symptoms), thyroid function, and human chorionic gonadotropin (HCG) on pregnancy outcome of mother and foetus.	false
+9f26412093d5d72c75c3307c36fabee4ca61cf22	@DISEASE$ (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the @PHENOTYPICFEATURE$ form.	false
+51e82d86d7ba1efa53f9ae5e6b702e461fae3b29	Five (5.4%) patients were diagnosed with @PHENOTYPICFEATURE$ manifestations, six (6.5%) with vitiligo, six (6.5%) with autoimmune hemolytic anemia (AIHA), six (6.5%) with idiopathic thrombocytopenia, three (3.3%) with mild leucopenia, two (2.2%) with aplastic anemia, two (2.2%) (one boy, one girl) with autoimmune thyroid disease, and one (1.1%) with @DISEASE$.	false
+89a7099e591a608e6496bf7ef06cd52b9e913aa8	The second patient was a 17-year-old girl with @DISEASE$, @PHENOTYPICFEATURE$, mucocutaneous candidiasis, nail dystrophy, and obliterating bronchiolitis with a probable autoimmune origin.	false
+89c560aeff33694fba2c1a8b8a6a1680716e0575	Severe cerebral contusion is sometimes associated with early @PHENOTYPICFEATURE$ formation within 24-48 hours post-trauma, and this frequently results in progressive @DISEASE$ elevation and clinical deterioration.	false
+89bca53f60063543a7f300f746faf64daba669bf	Striking differences were observed in patients scoring 9 or more on Glasgow Coma Scale at admission (56% vs. 17%); p = 0.017; n = 45) and demonstrated "talk-and-deteriorate" (64% vs. 22%: p = 0.026; n = 29), supporting our hypothesis that early massive @PHENOTYPICFEATURE$ is caused by cerebral contusion accompanied by necrotic brain tissue, indicating that surgical excision of necrotic brain tissue provides satisfactory control of progressive elevation in @DISEASE$ and clinical deterioration in many cases.	false
+3079be539f38811829f1589a0aea49db4c67cf7e	Similarly, animal studies show that TH can sometimes reduce @PHENOTYPICFEATURE$, but whether @DISEASE$ would be attenuated is not known.	false
+734b82df313addd3e0d69e41bcb794e7f0521e00	Morphological and glucose @PHENOTYPICFEATURE$ in @DISEASE$ Korsakoff's syndrome: group comparisons and individual analyses.	false
+0146c5404cf8a71a0169f514072145014f4c36ae	Toxicity of EG and methanol is related to the production of toxic metabolites by the enzyme @DISEASE$ dehydrogenase (ADH), which can lead to metabolic acidosis, renal failure (in EG poisoning), @PHENOTYPICFEATURE$ (in methanol poisoning) and death.	false
+b36f9b366224ded8729084bbb56c2647abeb1c81	The studies investigating HSPM revealed an association with maternal @DISEASE$ consumption, infantile @PHENOTYPICFEATURE$ and ethnicity.	false
+720d20a166ea672f49b901858e1a34d6368c664e	We compared the three techniques under conditions of effective cardiac sympathetic denervation, pure autonomic failure (n = 4), @DISEASE$ (n = 1), and after cardiac transplantation (n = 9) as well as in the context of sympathetic nervous activation in @PHENOTYPICFEATURE$ (n = 15) and with aging (n = 10).	false
+3813cd8c634142b36e039acac88b662293df04c5	@DISEASE$ (EDA-ID) is characterized by hypohidrosis, @PHENOTYPICFEATURE$, sparse hair, and immunodeficiency.	false
+60eb5e202dde4ffaafee58c9e1b8c95dfbdf8b4e	A 46-year-old female with a history of @DISEASE$, bradydactylies and kyphosis showed oscillopsia, @PHENOTYPICFEATURE$ and hemifacial spasm.	false
+d6e06601a13ed70c3b7f96dfd8a8ea0261b936a9	A 55-year-old man with @PHENOTYPICFEATURE$ and @DISEASE$ was found to have reduced serum concentrations of total cholesterol, betalipoprotein and apolipoprotein B. Computed tomography revealed atrophy of the cerebellum and brain stem.	false
+01d31b1ac0a3340ac05333fd9702f5a51cd16e83	Familial hypobetalipoproteinaemia complicated by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d1dc09258aef884708ec1077950d7950809cea00	This case represents a rare combination of familial hypobetalipoproteinaemia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d1c404af4df2ac386b9c8e738e42e8e8aa240ba5	Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and @DISEASE$; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, @PHENOTYPICFEATURE$, hair anomalies, and alopecia.	false
+00bcf113d8071bcf44427dae10d265a6fd329b90	@DISEASE$ and abdominal @PHENOTYPICFEATURE$.	false
+1b1b160b02a6a4edb9d947a4dd76bcce2bf6c9f8	[@DISEASE$ and @PHENOTYPICFEATURE$ of the hematopoietic system].	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+d634aa805d93038f1316e7037c152da5ca1d03c4	[@DISEASE$ and occupational @PHENOTYPICFEATURE$].	false
+bcd440447befd66e1899a8d3f8ffa2374ae52ea0	Malignant pleural mesothelioma (MPM) is a rare and @DISEASE$-associated @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+b0f611cde83f9f875ae40653743078095794d29f	The authors counted the asbestos bodies in multiple paraffin-embedded sections of lung tissues stained for iron, and compared those numbers with the asbestos body counts determined by hypochlorite digestion of wet formalin-fixed lung tissue in six cases of @DISEASE$ or asbestos-associated @PHENOTYPICFEATURE$.	false
+a7c08008b5e5b5c6ebabfb5a82aa1354b747b934	Lung tissue was examined histologically to confirm the diagnosis, subtype of @PHENOTYPICFEATURE$, presence or absence of @DISEASE$ and asbestos bodies.	false
+ef69e827f45b1335852038737852fa66066641f7	To determine the association of single-nucleotide polymorphisms (SNPs) in genes related to craniofacial development, which were previously identified as susceptibility signals for nonsyndromic @PHENOTYPICFEATURE$, in Brazilians with @DISEASE$ and/or palate (NSCL/P).	false
+923b72972e4018c840952adb91885ad1a7b960cd	The general birth prevalence of @PHENOTYPICFEATURE$ was 0.48? (about 1/2100, n=150,973) which was made up of 0.23?, 0.12?, and 0.11? for cleft lip and palate, @DISEASE$, and isolated cleft palate, respectively.	false
+38174fdfbe6100674b3d6eb49894ff46c58be6ce	Five infants (7.3/1,000) had @PHENOTYPICFEATURE$: isolated cleft palate (3), @DISEASE$ (1), and cleft lip and palate (1).	false
+d0a31226ed0ac78bb6de85998ae74aa64adce710	A population-based retrospective analysis of all cases of @DISEASE$ and/@PHENOTYPICFEATURE$ during an 8-year period in an academic teaching hospital in the UK.	false
+5242a61a122b2f7d3787c70320693df8485566c1	The study sample consisted of 334 case-parent trios of nonsyndromic @PHENOTYPICFEATURE$ from Taiwanese population, separated into @DISEASE$/palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups.	false
+b27ab48bda1d5dbeffacff3e3bef8aa672838b5e	The @DISEASE$, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities, and thickening and @PHENOTYPICFEATURE$ of the skin, unlike that seen in other genodermatoses.	false
+c7150882b15bbe1b8d22ad40bce4c9b71c591eae	Replication errors (RERs) were initially identified in hereditary nonpolyposis colon cancer and other @PHENOTYPICFEATURE$ of @DISEASE$ II.	false
+8ac6d0e66ea672ff2e5457a823c2856fb9a54cbf	Replication errors (RERs) were initially identified in @DISEASE$ and other @PHENOTYPICFEATURE$ of Lynch syndrome II.	false
+b46591a588a28db4109211437506b8dc0ee43211	Uncommon @DISEASE$-associated @PHENOTYPICFEATURE$ types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical Lynch syndrome tumours are unavailable.	false
+301ffb4536715973190e7f7fd042d9708f20ef70	Uncommon Lynch syndrome-associated tumour types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical @DISEASE$ @PHENOTYPICFEATURE$ are unavailable.	false
+d01665eb33e68df196777d527c824b571d8a3eab	Uncommon Lynch syndrome-associated @PHENOTYPICFEATURE$ types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical @DISEASE$ tumours are unavailable.	false
+972e76f10cf691d678531d5c1ec0e57ef803f540	Uncommon Lynch syndrome-associated @PHENOTYPICFEATURE$ types might be useful in the genetic analysis of a @DISEASE$ suspected family if samples from typical Lynch syndrome tumours are unavailable.	false
+4e8e1eaa5d57c6fdf3a8c3aa244dcd982c08cf71	Uncommon @DISEASE$-associated tumour types might be useful in the genetic analysis of a Lynch syndrome suspected family if samples from typical Lynch syndrome @PHENOTYPICFEATURE$ are unavailable.	false
+09da4f31a0647930a1b3c768b39e90ef6f4ea5aa	Uncommon Lynch syndrome-associated tumour types might be useful in the genetic analysis of a @DISEASE$ suspected family if samples from typical Lynch syndrome @PHENOTYPICFEATURE$ are unavailable.	false
+7e4c124405a67cc3aa3adae53a1896af0b837e3d	Established Lynch syndrome-associated genitourinary tumors will necessitate the development of methods to diagnose Lynch syndrome in patients presenting with these malignancies, in addition to establishing screening guidelines for patients with @DISEASE$-associated genitourinary @PHENOTYPICFEATURE$.	false
+8f032e568aeb0fdcfff959a3398efe9f228adbcb	Established Lynch syndrome-associated genitourinary @PHENOTYPICFEATURE$ will necessitate the development of methods to diagnose Lynch syndrome in patients presenting with these malignancies, in addition to establishing screening guidelines for patients with @DISEASE$-associated genitourinary tumors.	false
+e858f44a13a5bb242b543b8a656fad742fc7243d	Established @DISEASE$-associated genitourinary tumors will necessitate the development of methods to diagnose Lynch syndrome in patients presenting with these malignancies, in addition to establishing screening guidelines for patients with Lynch syndrome-associated genitourinary @PHENOTYPICFEATURE$.	false
+f1b7ce3e123fb156fa15ec6315614f80ebfdeeea	Established Lynch syndrome-associated genitourinary @PHENOTYPICFEATURE$ will necessitate the development of methods to diagnose @DISEASE$ in patients presenting with these malignancies, in addition to establishing screening guidelines for patients with Lynch syndrome-associated genitourinary tumors.	false
+062f8f4515c4016f6fa47cffe505897fa4d0a9e7	Established Lynch syndrome-associated genitourinary tumors will necessitate the development of methods to diagnose @DISEASE$ in patients presenting with these malignancies, in addition to establishing screening guidelines for patients with Lynch syndrome-associated genitourinary @PHENOTYPICFEATURE$.	false
+aa2832393415268b0aabdc121b7266e511d2fa12	Established @DISEASE$-associated genitourinary @PHENOTYPICFEATURE$ will necessitate the development of methods to diagnose Lynch syndrome in patients presenting with these malignancies, in addition to establishing screening guidelines for patients with Lynch syndrome-associated genitourinary tumors.	false
+f5f6e4b23eeeebb9bff58bed44be60f67b95c010	Management of extracolonic @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+8c4c6bd0ccce1e7a57abc8afea5b91ecf4e6f7da	Stability of BAT26 in @DISEASE$ colorectal @PHENOTYPICFEATURE$.	false
+ca01404cdd6848f995b97308ba784250768f373d	Identification of @DISEASE$ @PHENOTYPICFEATURE$ is challenging.	false
+893917ed3bd560768a622f4f3cdc90d560465d5e	The @PHENOTYPICFEATURE$ spectrum in the @DISEASE$.	false
+969d4f8e471ce694fd631555b4994fdd90219b9b	@PHENOTYPICFEATURE$ variation in three extended @DISEASE$ II kindreds.	false
+1bd460d1adef37887d06d788d60bd8dd2e654cbf	[@DISEASE$: towards a multidisciplinary management of @PHENOTYPICFEATURE$ screening].	false
+49c793077d2503fb6ad53c4b45cd2082e370fc76	Estrogens, MSI and @DISEASE$-associated @PHENOTYPICFEATURE$.	false
+b43c9d0383870a4db296850ebc58f4a3c0a1ef6c	The human @DISEASE$ associates a thyroid-C-cell @PHENOTYPICFEATURE$ and a pheochromocytoma.	false
+cbc2a40507376cf919ef6c3a7ca5d042fcc2f040	Of the 43 pheochromocytomas, 16 were @PHENOTYPICFEATURE$ inherited in the setting of @DISEASE$.	false
+cc140eb5a5f6eae6223bdac67bad78ae66b9261d	The germline RET mutation was found in all @DISEASE$-component @PHENOTYPICFEATURE$.	false
+a9d45dab94072b49c94000334cc63ef9dc1a2249	This is the most common combination of @DISEASE$ @PHENOTYPICFEATURE$.	false
+f5b26c4f44a1b11306df2e60018fedb336e07219	Re: Clinical value of @PHENOTYPICFEATURE$ doubling estimations in @DISEASE$.	false
+b07c85d4f864d709a830951a5820d70513da3e65	Genetic aberrance of sporadic @DISEASE$ component @PHENOTYPICFEATURE$: analysis of RET.	false
+e5c40e87e2bb711a263a3192335e172e8ea98efd	Clinical value of @PHENOTYPICFEATURE$ doubling estimations in @DISEASE$.	false
+0164494169378a40817ab3f092d5dba248654a0f	@DISEASE$ (MEN-2a) is a rare disease associated with @PHENOTYPICFEATURE$ of endocrine organs.	false
+0f1f74a21974522a79b216612669281e3f950052	Pheochromocytoma in @DISEASE$: an example of the two-hit theory of @PHENOTYPICFEATURE$.	false
+5ea1d4f082e690960ad4f059c081fb833a1cc29b	These results suggest the oncogenic role of SPHK1 in @DISEASE$ type @PHENOTYPICFEATURE$.	false
+bad2edebdca920f80a67a2d42ad99bcf66b83a5a	We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of @DISEASE$ deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed @PHENOTYPICFEATURE$ from 19 months of age, and had died from severe visceral complications at the age of 3. In the transplanted propositus, neurological deterioration became evident by 4 years of age; the child was alive at age 8, although severely disabled.	false
+711b68933c2a8bdf45df7f30fd0349e150fa0fc5	A case of a 69-year-old woman with @DISEASE$ (Sheehan's syndrome) associated with @PHENOTYPICFEATURE$ and severe hyponatremia is reported.	false
+dd11d6517180d8cae8086ecef6a581bbc31e1416	A case of a 69-year-old woman with postpartum hypopituitarism (@DISEASE$) associated with @PHENOTYPICFEATURE$ and severe hyponatremia is reported.	false
+85b2ec9429baa8aed0f113eeb4bd83a5d9122346	Severe @PHENOTYPICFEATURE$ and cardiogenic shock can be a very rare (but fortunately reversible) complication of long-standing panhypopituitarism resulting from undiagnosed @DISEASE$.	false
+0e1f923331638c4b0d29189168de2706c8b706d9	We report the case of a young woman with @DISEASE$ who presented with ventricular arrhythmia and @PHENOTYPICFEATURE$.	false
+7542004483a754581cf01c91636032b25aa8ee8c	@PHENOTYPICFEATURE$ in patients with @DISEASE$ are uncommon.	false
+19abc551ae17b932e57193c746e10813621fce41	To indicate cardiogenic shock as a very rare but serious clinical consequence of untreated panhypopituitarism attributable to @DISEASE$; to emphasize the importance of eliciting a detailed endocrine and obstetric history in women presenting with idiopathic @PHENOTYPICFEATURE$; to highlight the diagnostic shortcomings of screening for thyroid dysfunction solely with thyroid-stimulating hormone determinations; and to report the reversibility of severe heart failure induced by long-term pituitary insufficiency.	false
+82c08acebadf70bdfcce234798b7bdb84766b8e9	A case of @DISEASE$ (Sheehan's syndrome) associated with severe hyponatremia and @PHENOTYPICFEATURE$.	false
+8529d22e08d4412829356dad9169b1a92f833301	A case of postpartum hypopituitarism (@DISEASE$) associated with severe hyponatremia and @PHENOTYPICFEATURE$.	false
+eb553dacdf2df347d8678b2eae2de85cd9c02027	@DISEASE$ presenting with early postpartum @PHENOTYPICFEATURE$.	false
+5b68d1711cae7b674185bc2c733873f3fdecefca	[Contiguous gene deletion within chromosome arm 10q is associated with @DISEASE$, reflecting cooperation between the BMPR1A and PTEN @PHENOTYPICFEATURE$-suppressor genes].	false
+670a6b13d7f1fff29504d1f4d6b93e969d24e707	We hypothesize that @DISEASE$ is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two @PHENOTYPICFEATURE$-suppressor genes.	false
+9ef5b592b8da1275e00844d256b4eab29d927d43	Contiguous gene deletion within chromosome arm 10q is associated with @DISEASE$, reflecting cooperation between the BMPR1A and PTEN @PHENOTYPICFEATURE$-suppressor genes.	false
+0fc4c2bd9d59767b327e139b805281746c559a56	Increased EMPs may be defined in several cardiovascular diseases, such as stable and unstable coronary artery disease, acute and chronic heart failure, hypertension, arrhythmias, thromboembolism, asymptomatic atherosclerosis as well as @PHENOTYPICFEATURE$, metabolic disorders (including type two diabetes mellitus, @DISEASE$, insulin resistance) and dyslipidemia.	false
+d998107f69138e6320bd3e9b9d394a37dacd2732	Atypical macular coloboma (dysplasia) associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3992bd33418c7e0f51aa14813cbf2c91190e410c	Frequent features (75% to 90%) include postnatal growth deficiency, @DISEASE$, wide nasal tip and mouth, prominent lips, eyebrow/eyelash @PHENOTYPICFEATURE$, and scalp hair hypotrichosis.	false
+4038a59294973139cd5071d336436600c3fdc11d	Frequent features (75% to 90%) include postnatal growth deficiency, @DISEASE$, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair @PHENOTYPICFEATURE$.	false
+8f237fdbd821f24932c5c4e851ce610d2d18ebcd	From infancy, she presented with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+b2155ad5ccc8435c53e8fe8edd6fd3423845bada	A second case of @DISEASE$, microphthalmia, @PHENOTYPICFEATURE$ (split-foot) and prognathism (MMEP).	false
+275659c49614114dc426d5050cf10191201cd908	Abnormalities of cranial size and configuration include @PHENOTYPICFEATURE$, @DISEASE$ and dysmorphic skull.	false
+bfe1444629405233f7576130d1df65e0e1725ccb	Additional features of the syndrome include @PHENOTYPICFEATURE$, @DISEASE$, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation.	false
+905ce4448ca4168836ed9dfca95a9ac686b576b7	Additional features of the syndrome include failure to thrive, @DISEASE$, hypertelorism, @PHENOTYPICFEATURE$, hypotonia, and severe mental retardation.	false
+c831516513ad162c687397ad79e7fb26f7bffdd8	Typical features include developmental delay, @PHENOTYPICFEATURE$, @DISEASE$, cutaneous photosensitivity, dental anomalies, progressive hearing loss, pigmentary retinopathy, cataracts and enophthalmia.	false
+c2261fc667ce322eb4dfa6a764dcd03cc803221e	Typical features include developmental delay, failure to thrive, @DISEASE$, @PHENOTYPICFEATURE$, dental anomalies, progressive hearing loss, pigmentary retinopathy, cataracts and enophthalmia.	false
+1d1b7498773e5d643d58c8cbe011509d0eb46f6c	Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), @DISEASE$, central nervous system alterations, facial abnormalities, ichthyosis, @PHENOTYPICFEATURE$, generalized edema, polyhydramnios, and perinatal death.	false
+17a20cc45dd05823538a341e9def5269eebd6338	Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), @DISEASE$, central nervous system alterations, @PHENOTYPICFEATURE$, ichthyosis, limb abnormalities, generalized edema, polyhydramnios, and perinatal death.	false
+29a3a7c36d43289e7c1e323308106e9e99feca4a	Chornobyl, radiation, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+ac3df335d57a56aed7498a75f80831e36219698a	We report on a brother and sister with epiphyseal dysplasia and @PHENOTYPICFEATURE$, @DISEASE$, and short stature.	false
+e8512cfa4ffbe86196cb769b4ea37e2d2230bfd8	Full-term newborns with congenital @DISEASE$ and @PHENOTYPICFEATURE$ in Southwest Nigeria.	false
+426a90c64bf688d4e52e150251291ba4a886cf65	Coffin-Lowry syndrome (@DISEASE$) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with @PHENOTYPICFEATURE$ and skeletal malformations.	false
+5e8911253666c6d8843153fcaaf18039870a14e5	@DISEASE$ (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with @PHENOTYPICFEATURE$ and skeletal malformations.	false
+694a0765a9b3856d894fa4ded693e71aec4e3902	Highly heterogeneous  loss-of-function mutations affecting this gene are responsible for a severe syndromic form of @PHENOTYPICFEATURE$, @DISEASE$.	false
+148cf59f45118b550aefc849435b02aa3cf46c2b	We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and @PHENOTYPICFEATURE$ present in Rsk2 knockout mice, a model of @DISEASE$, as well as in triple Rsk1,2,3 knockout mutants.	false
+88bd025f94f79ba6a340a6015594fe6ed3c691ef	@PHENOTYPICFEATURE$ in @DISEASE$ correlates with reduced RSK2 activation.	false
+3817ebb93487adceeab3a0fd746844e3bfb499a0	Rsk2 gene deficiency leads to the @DISEASE$, notably characterized by @PHENOTYPICFEATURE$.	false
+d1e530f481cf302b0650138317b335a707917153	Coffin-Lowry syndrome (@DISEASE$) is characterized by @PHENOTYPICFEATURE$, characteristic facial and digital findings and skeletal anomalies.	false
+185ac6a7b28e4854b7085b7356dc122394d882a1	@DISEASE$ (CLS) is characterized by @PHENOTYPICFEATURE$, characteristic facial and digital findings and skeletal anomalies.	false
+3d3fb83554d6f13b75e3a2d9fde95d348d63e849	On the other hand, in the so-termed @DISEASE$, kidney involvement is not associated with thrombocytopenia, @PHENOTYPICFEATURE$, or other system involvement.	false
+63f6b6ebaeca7a59c4e84d793c60534b74c7cd93	Extensive @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+0d700dc9254ba328de047c7ff747cc7c0083a7f8	Massive @PHENOTYPICFEATURE$ in @DISEASE$: report of an unusual case.	false
+defff19f8b4af64043d9c40b05dc4724d56210cd	@PHENOTYPICFEATURE$ and liver membrane autoantibodies in @DISEASE$.	false
+1da4bb7db5cb29bf1025b5eae44a0cb6267d26a5	@PHENOTYPICFEATURE$ decreased or disappeared in 4 patients with @DISEASE$.	false
+2de4deec02ca0c98cc081dfe154526705d136166	The authors describe a case of @DISEASE$ associated with marked @PHENOTYPICFEATURE$.	false
+8373f480bc34bbd565b67fdae0103f24236c3522	@DISEASE$ associated with marked @PHENOTYPICFEATURE$.	false
+63f6b6ebaeca7a59c4e84d793c60534b74c7cd93	Extensive @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+a78d08aed2c908fd12cc9f2ead5480049996cf76	[Neuropsychiatric @DISEASE$ associated with anti-phospholipid syndrome, showing massive @PHENOTYPICFEATURE$].	false
+afeff811deeb87a1c7e32b54f5e82bae406cfac0	@DISEASE$ and @PHENOTYPICFEATURE$ epileptic manifestations.	false
+a741287502dac5b44f83f3a52067c4fd2edfe37a	[Five cases of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+c0821e8a70674f7c9a1d3e65bc025526c8999d26	These findings suggest that factors other than fibrosis and @PHENOTYPICFEATURE$ may contribute to distal esophageal dysmotility in polymyositis and @DISEASE$.	false
+0ce0bb188033bb8e042c5980312e43af7b31c6ea	@PHENOTYPICFEATURE$ and weakness are often observed in patients with chronic inflammatory diseases, and are the major clinical features of the autoimmune myopathies, polymyositis and @DISEASE$.	false
+b879cb6605022cb969152a017ccf3150b960c0ab	To analyse the expression of factors potentially involved in skeletal @PHENOTYPICFEATURE$ and regeneration in @DISEASE$ (DM), systemic sclerosis (SSc), polymyositis (PM), systemic lupus erythematosus (SLE) and non-inflammatory myopathies.	false
+923227d0d87092782a4464b71384401384cf79bf	A 59-year-old woman, who had been taking high-dose prednisolone for a month and cyclosporin for 10 days for @DISEASE$, developed @PHENOTYPICFEATURE$ on the left popliteal fossa.	false
+939e919542839f1baf93ece8b9f7366a7e4d4be8	@DISEASE$ is an unknown cause's disease that in general is characterized by muscular inflammation with weakness and typical @PHENOTYPICFEATURE$ (heliotrope and Gottron's papules).	false
+17e5563024ec0a90040cc2475182486c7174e1c3	@DISEASE$ is an inflammation of the striated muscle with an important leukocyte infiltrate which is accompanied by a characteristic cutaneous @PHENOTYPICFEATURE$.	false
+74d986b283f1811b3788f9cc4c3ef9f687fbabba	In this review, paraneoplastic syndromes associated with lung malignancy are discussed, including ectopic ACTH syndrome, bronchial carcinoid variant syndrome, secondary hypertrophic osteoarthropathy/digital clubbing, erythema gyratum repens, malignant acanthosis nigricans, sign of Leser-Tr?lat, tripe palms, @PHENOTYPICFEATURE$ lanuginosa, acrokeratosis paraneoplastica, and @DISEASE$.	false
+37becc819a7cfa54ca929c2232ab34f06817e2d9	Skeletal muscle biopsy specimens of five patients with sIBM, two with oculopharyngeal muscular dystrophy (OPMD), three with polymyositis (PM), three with @DISEASE$ (DM), three with @PHENOTYPICFEATURE$, and three healthy control subjects were examined.	false
+9a8cc733159a3358cde513d83470a299a714cfb9	We describe a patient who developed a @PHENOTYPICFEATURE$, histologically compatible with @DISEASE$, which during the course of the disease switched to leukocytoclastic vasculitis, which was accompanied with peripheral blood pancytopenia in the absence of any specific pathological manifestation from the bone marrow three years prior to the diagnosis of acute myelomonocytic leukemia (AMML).	false
+6d492731c9a10e74367f993b8eb53af70b14d1e7	This contribution presents the morphologic aspects and the differential diagnosis of the main paraneoplasias, which include acanthosis nigricans, tripe palms, Leser-Tr?lat sign, acquired ichthyosis, acquired @PHENOTYPICFEATURE$ lanuginosa, pityriasis rotunda, erythema gyratum repens, palmo-plantar keratoderma, Bazex syndrome, and @DISEASE$, hoping to contribute to the familiarity of dermatologists with the identification and early diagnosis of this group.	false
+ac557b8518b94dfa5b8358b660fca49490504d15	We are describing the first case of metabolic stroke and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+2b840a9e1230c52ad09ea4564c12065cddcf475a	We distinguished progressive @PHENOTYPICFEATURE$ epilepsies (observed in some lysosomal storage diseases, respiratory chain disorders and Lafora disease), from other forms of epilepsies (observed in disorders of intermediary metabolism, including porphyrias, creatine metabolism defects, glucose transporter (GLUT-1) deficiency, Wilson disease or @DISEASE$).	false
+083a3710de1068edea637e18c4b8516488609110	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (@DISEASE$, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+cf821a0dd09273913d3e515495aed40783b807fc	We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: @DISEASE$ (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, @PHENOTYPICFEATURE$, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072).	false
+9b939613f809261ac784b567ba81746696d232f7	Colonic graft-versus-host disease (@DISEASE$) occurring after allogeneic bone marrow transplantation (BMT) resembles @PHENOTYPICFEATURE$ (UC) with respect to pathological features.	false
+2af4d6e508636f478b5c2efa4f130278130b8311	In the 15 patients with @DISEASE$ enteritis, colonoscopy revealed non-specific findings such as @PHENOTYPICFEATURE$, redness, and erosions.	false
+b5799f095efd18e0e2a2b2c72320fb2eeb48c84a	Gastric @PHENOTYPICFEATURE$, erythema, and apoptotic epithelial cells were the most useful findings for the diagnosis of @DISEASE$.	false
+03b53d76c56be6d7db220cf13a44f97484fb0e38	Chronic @DISEASE$ was characterized in each patient by progression to scleroderma-like skin involvement with @PHENOTYPICFEATURE$, reticular hyperpigmentation, atrophy with ulceration and fibrosis with limitation of joint movement.	false
+3455a5d57c3f3e5df212765e3d3cbd59e188118a	While the @PHENOTYPICFEATURE$ improved with anticoagulation treatment, gastrointestinal graft-versus-host disease (@DISEASE$) followed on day 13.	false
+5d5d36c764edb2598b7945f9a9f01c0a0d022308	Moreover, heparanase treated recipient F1 mice showed only a mild appearance of graft-versus-host disease and died 27 days post transplantation while control mice rapidly developed signs of @DISEASE$ (i.e., weight loss, @PHENOTYPICFEATURE$, diarrhea) and died after 12 days, indicating a protective effect of heparanase against graft-versus-host disease.	false
+fab397dc2f467b8ac997e91a55b8232249f05e6b	@PHENOTYPICFEATURE$ and enanthema in graft versus host disease (@DISEASE$).	false
+a3b4fd6480c398c12b5ae3cd76f2881eed280c32	These 5 patients included 2 hyperthyroid men with inappropriately high serum thyrotropin, one of whom also had  @DISEASE$, a man with hyperprolactinemia and elevated cerebrospinal fluid alpha, a postmenopausal woman with low serum gonadotropins and hyperprolactinemia, and a man with central hypothyroidism and @PHENOTYPICFEATURE$.	false
+0c4cbfe30d806d1a3ca335be0ae19c14ca927809	Altogether 15 patients with the most common types of hypothalamo-hypophyseal diseases including Itsenko-Cushing disease (6) of various degrees of severity, hyperprolactinemic @PHENOTYPICFEATURE$ (8), and one patient with @DISEASE$ were investigated.	false
+e7be17dec615ed157782c86e02bf04266b1aa90b	@DISEASE$ is a rare condition characterised by a typical @PHENOTYPICFEATURE$, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.	false
+a352e9a621e62411ac93f98c455078de6cd609f5	@DISEASE$ (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic @PHENOTYPICFEATURE$ and skeletal anomalies.	false
+fd4fdd2096e82e2929a85b066feea502586ee4c9	@DISEASE$ is a rare disease characterized by typical @PHENOTYPICFEATURE$, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay.	false
+1c0e1a9a69c6f3e5e7da04856480c6c4b3632f04	We report a de novo @PHENOTYPICFEATURE$ of ANKRD11 gene in a 7-years old girl, affected by @DISEASE$ with bilateral conductive hearing loss.	false
+f071cc9f9c4ea0f4076923483aadb754c35aee55	Cardinal features of @DISEASE$ include @PHENOTYPICFEATURE$, short stature, skeletal anomalies, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	false
+6d6d806943dcb2d62d678e8431436a3369b2b829	@DISEASE$ is a rare autosomal dominant congenital syndrome comprising developmental delay with various neurological involvements, macrodontia of the upper central incisors, characteristic @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+2a328106ade7d1faf3546e9271e047c8c1534660	@DISEASE$, due to ANKRD11 alteration is characterized by developmental delay, short stature, @PHENOTYPICFEATURE$, and skeletal anomalies.	false
+38d795c8513a8b509785d823a381a7c218f5699e	The @DISEASE$ of lacrimal gland presents as a painless, progressive, slowly growing supero-temporal swelling with variable @PHENOTYPICFEATURE$.	false
+8e1545a3fe538acfad34929fa92f86cd5c7ac153	A 40-year-old Japanese man's left ear canal was obstructed by a @DISEASE$ that caused mild @PHENOTYPICFEATURE$.	false
+6b24032c99d5b2600158aaeb76638c1c314c2600	@DISEASE$ presenting with @PHENOTYPICFEATURE$ in the ear canal: a case report and review of the literature.	false
+c3435002333d27f526e73da7ca5f2f4fa9525997	We describe a case of a malignant change in a calcified @DISEASE$ of the deep lobe of the parotid gland in a patient whose initial symptom was facial @PHENOTYPICFEATURE$.	false
+0d73115bedeb2f14f9cc7d9696b601e6d7023afb	We have studied a girl with fibrotic extrinsic eye muscles, @DISEASE$, unusual facial appearance, mild @PHENOTYPICFEATURE$, and neurodevelopmental delay.	false
+7354cb4ed9926123ad0275db7f52fc48f8468f42	@DISEASE$, laryngomalacia, unilateral vocal fold paralysis, developmental delay, epilepsy/@PHENOTYPICFEATURE$, syndrome, and congenital heart disease were all associated with silent aspiration.	false
+b41c16d5f1a48645f167bc9bbb3264dbc466f511	In contrast, PolyHbbov and @DISEASE$ exhibited @PHENOTYPICFEATURE$ and partially restored perfusion and functional capillary density compared with PolyHbhum.	false
+78d5dbcdd428efaed1fe2ec617d1af0c99d04506	We established 6 xenograft canine @DISEASE$ @PHENOTYPICFEATURE$ in nude mice and found that the expressions of angiogenic growth factors and their receptors in xenograft HSAs were similar to those in spontaneous HSA.	false
+06da9a032a73bb6aba030922a17ae5e90147bab9	The success of this study may be generalizable for other peptide-based probes to be conjugated with @DISEASE$ for prolonged @PHENOTYPICFEATURE$ contrast and improved pharmacokinetics.	false
+d9f599ed90a9a0f41c37ed71e3cbacf60d3d28ca	In the subset of dogs with specific histologic diagnoses, the number with @DISEASE$ was almost 10-fold that of the 2nd most common @PHENOTYPICFEATURE$, aortic body tumor.	false
+325969915c147c2e1170425b3392c6283bf86e9c	Interestingly, expressions of bFGF tended to be higher in 3 of the xenograft @DISEASE$ tumors than in the other @PHENOTYPICFEATURE$.	false
+0a4440bdd46b8cc14fd9dc34f87577511e1a63af	Interestingly, expressions of bFGF tended to be higher in 3 of the xenograft @DISEASE$ @PHENOTYPICFEATURE$ than in the other tumors.	false
+1e071448327c6d53eeeb638b50e29c07b42b7201	We conclude that an allogeneic @PHENOTYPICFEATURE$ lysate vaccine is safe in dogs with @DISEASE$ and can elicit humoral immune responses in dogs that are receiving concurrent doxorubicin chemotherapy.	false
+8f335f76510cc4c2814ff62fb863c81bd641f318	The introduction of oeu-small RNA in @DISEASE$-miR34a-deficient @PHENOTYPICFEATURE$ cells restores its function, whereas cells with normal expression of endogenous hsa-miR34a remained unaffected.	false
+3ae11146b657d6609c0a3279557327409d9ac626	In the present study, we established 6 xenograft canine @DISEASE$ @PHENOTYPICFEATURE$ and detected the expression of growth factors, their receptors, and angiogenic homeobox genes.	false
+38d64b309060ec2f81a24c054dfd324ee356d69f	More recently, the identification of a novel subclassification of HSAs has provided a foundation to further our understanding of the cellular characteristics of @DISEASE$ tumor cells, along with those of the cells comprising the @PHENOTYPICFEATURE$ microenvironment.	false
+8e1ec34954454cd769f170859ab4b5e562b60003	More recently, the identification of a novel subclassification of HSAs has provided a foundation to further our understanding of the cellular characteristics of @DISEASE$ @PHENOTYPICFEATURE$ cells, along with those of the cells comprising the tumor microenvironment.	false
+a69bd8229c7de5c899fb4cd4ecc5f617d79ec428	Dogs with @DISEASE$ were more likely than dogs with tOSA to be male and have hind limb @PHENOTYPICFEATURE$; 78% of HSA occurred in hind limbs, particularly the tibia.	false
+e95f7672fc3c98e831444e7e2a35a78532131b18	@DISEASE$ (CRPS) type 1 is characterized by the presence of pain, @PHENOTYPICFEATURE$, functional impotence, impaired mobility, trophic changes, vasomotor instability and bone demineralization.	false
+27ae1df1fed1d52082beee4ebbc78c3d39056a46	Group 1 ischemic BME: osteonecrosis, osteochondritis dissecans, bone marrow @PHENOTYPICFEATURE$ syndrome and @DISEASE$.	false
+a29b7b4964ef956a7df701b6318682f07232448a	Tibia fracture in rats evokes chronic hindpaw warmth, @PHENOTYPICFEATURE$, allodynia, and regional osteopenia, a syndrome resembling @DISEASE$ (CRPS).	false
+8e64880a60e5a42253ed3e8e77833fad3ebeabc1	@DISEASE$ (CRPS) is characterized by searing pain, hyperalgesia, @PHENOTYPICFEATURE$, allodynia, and skin changes.	false
+5b31dd9db7f636bb70fb56c2829399565d1e6d5d	@DISEASE$ (CRPS) is an incompletely understood disorder characterized by progressive regional pain and sensory changes, with fluctuating cutaneous @PHENOTYPICFEATURE$ and erythema.	false
+724b6c2c5d9086091c958398928b7795716ee24d	@DISEASE$ (CRPS) is a disorder characterized by pain, @PHENOTYPICFEATURE$, skin color changes and autonomic abnormalities.	false
+d0dc476bf6b9b26199f839b0d7cf63609d4e4d2f	@DISEASE$ is characterized by pain, allodynia, hyperalgesia, @PHENOTYPICFEATURE$, signs of vasomotor instability, movement disorders, joint stiffness, and regional osteopenia.	false
+6ae599a00362d0f9aed4619d1fa4a09c11b06d1f	She had been suffering from continuous and spasmodic burning pain, hyperalgesia, allodynia, drop in skin temperature, sudmotor disturbance, edema, constructure of the joints, @PHENOTYPICFEATURE$ and bone atrophy of her right upper extremity probably due to postherpetic neuralgia (PHN) associated with @DISEASE$ (CRPS).	false
+f6057836a50e8ff0b6059913501bddc2f8883f90	She had been suffering from continuous and spasmodic burning pain, hyperalgesia, allodynia, drop in skin temperature, sudmotor disturbance, @PHENOTYPICFEATURE$, constructure of the joints, muscle atrophy and bone atrophy of her right upper extremity probably due to postherpetic neuralgia (PHN) associated with @DISEASE$ (CRPS).	false
+fa1db78cc864efc3f8da3f2b28d799741dc8f07e	Patients with @DISEASE$ (CRPS) exhibit diverse symptoms, such as neuropathic pain, allodynia, local @PHENOTYPICFEATURE$ and skin color changes in the affected lesion.	false
+c263482c6e74e15c7331c403ed4b9f8146951803	Women sustaining a DRF are at risk for upper limb immobility, sensorimotor changes, @PHENOTYPICFEATURE$ and type I @DISEASE$ (CRPS).	false
+f4b43bca5ee392a8195006408ca89468e3c57192	Lung neovascularity in pulmonary arterial hypertension associated with @PHENOTYPICFEATURE$ and @DISEASE$: study of 198 patients.	false
+6233c4f7367158b5b6bb626834cb445bdab022bc	Isolated LV @DISEASE$ hypoplasia is a unique, presumably congenital, @PHENOTYPICFEATURE$ that is an important condition to recognise.	false
+0a9cb97d600282e82eda9ffc48086753765e5b72	@PHENOTYPICFEATURE$ in @DISEASE$ are likely to be related to hypercoagulability.	false
+61d0221c3bd08abb7ff7e6a9bf8590e3236dff17	Echocardiography revealed @DISEASE$ hypertrophy and hypertrophic nonobstructive @PHENOTYPICFEATURE$ was diagnosed.	false
+c4c11e690e14e6b8f26c623c4a339b6fa292e5cb	Isolated left ventricular (LV) @DISEASE$ hypoplasia is a unusual and recently recognized congenital @PHENOTYPICFEATURE$.	false
+2884966106fc81243ff18a6603577f4b974ed35e	The antiphospholipid syndrome (@DISEASE$) has been associated with multiple @PHENOTYPICFEATURE$.	false
+37685a2c9de4c3235de21b5d7d970d5590737fbb	Clinical, hemodynamic, electrocardiographic (ECG), echocardiographic, left ventricular (LV), and coronary angiographic (CA) findings are reported in a case with @DISEASE$ hypertrophy (AH), a form of hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM).	false
+af54ff1088546a5f6cc09ee44052d06907cd0d45	She had multiple lentigines, cardiac anomalies (@DISEASE$ hypertrophic cardiomyopathy, left ventricular hypertrophy and pulmonary stenosis), @PHENOTYPICFEATURE$ and abnormal electrocardiographic findings.	false
+d973255cc1c913a3c609aff8f252932c4a06da1e	She had multiple lentigines, @PHENOTYPICFEATURE$ (@DISEASE$ hypertrophic cardiomyopathy, left ventricular hypertrophy and pulmonary stenosis), ocular hypertelorism and abnormal electrocardiographic findings.	false
+fb11b642388744383a5fdccad802deac804668fa	Abnormally wide coronary arteries were also found in 17 cases with @DISEASE$ hypertrophy, a form of hypertrophic nonobstructive @PHENOTYPICFEATURE$.	false
+871994040deb15e675f2cac0fd67100305a6984d	Isolated left ventricular (LV) @DISEASE$ hypoplasia is a rare congenital cardiac anomaly which is not accompanied by other @PHENOTYPICFEATURE$, with the exception of two cases.	false
+6e83767f49b4384127233274b8fb81346a2d81f3	Isolated left ventricular (LV) @DISEASE$ hypoplasia is a rare congenital @PHENOTYPICFEATURE$ which is not accompanied by other cardiac abnormalities, with the exception of two cases.	false
+b2aac7409a6497cddafd49e25c42017205169738	The left ventricular (LV) cineangiograms of ten patients with @DISEASE$ hypertrophy (AH, group I) as a form of hypertrophic nonobstructive @PHENOTYPICFEATURE$ (HNCM) were analyzed.	false
+1006c828eb731a2963baecf8dd626472e14cd411	Our findings suggest that @PHENOTYPICFEATURE$ is a latter sign of the pathology and that nervous system could be instead a primary target of the @DISEASE$ agent.	false
+37b8e3fe08f3096e0db14d1ea0b0774599367413	Alpha-viniferin suppressed the development of inflammatory @PHENOTYPICFEATURE$, and inhibited the bone destruction, noted with a decrease in @DISEASE$ (p < 0.05).	false
+8ee99fe8d94e37cce40c9110a0af37c244a81c39	Our data support a model of higher constitutive melanin density underpinning a less @PHENOTYPICFEATURE$ phenotype, permitting greater sun exposure with fewer sequelae and yielding higher 25-hydroxyvitamin D and, potentially, total body @DISEASE$.	false
+5ca8494243a2df92b0e94ea8122ff9bf043faeaf	The percentage of @PHENOTYPICFEATURE$ inhibition declined proportionally with flux of @DISEASE$ in the following order: ME-hydrogel (44.56???8.08%) > NLC-hydrogel (35.93???7.22%) > SLN-hydrogel (25.68???9.05%).	false
+a56eeb646e4a5ab4c248f45e1de5364cfa717835	Patients with low @DISEASE$ showed significantly higher bone marrow @PHENOTYPICFEATURE$ (BME) and deep BME scores on MRI than those with normal BMD (p?<?0.047 and 0.007, respectively).	false
+e8e39d3b1348b1c78f64092fcccd0131b1766efe	Patients with low BMD showed significantly higher bone marrow @PHENOTYPICFEATURE$ (BME) and deep BME scores on MRI than those with normal @DISEASE$ (p?<?0.047 and 0.007, respectively).	false
+bc7c71084ddaaae1e7f7d39b835db2c3a578c327	We found that individuals may be at risk of loss of hip @DISEASE$ from @PHENOTYPICFEATURE$, asymmetrical gait, and poor affected-side ankle dorsiflexor strength.	false
+a7cb56bfd62cc655da8b8160643e1616f2d1b6df	Hind paw @PHENOTYPICFEATURE$ volume, @DISEASE$ and radiological changes did not differ significantly in the ketoprofen and alpha-viniferin groups during the entire study period.	false
+22c487c7ac141993f1b91ef5a1ecc78ca356eca8	The association between systolic cardiac dysfunction and @PHENOTYPICFEATURE$ development in patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (@DISEASE$) is generally assumed but has not been extensively studied.	false
+916c7b83bcaaa493a01f65acf16eb0d25807141b	The individual had a history of @PHENOTYPICFEATURE$, bowel and bladder incontinence, reduced bone mineral density (@DISEASE$) for age, and spinal deformity at the time exercise was initiated.	false
+b46980bbfdc656e60ba08c9e17494a5377ed2295	Severe bone marrow @PHENOTYPICFEATURE$ on sacroiliac joint MRI increases the risk of low @DISEASE$ in patients with axial spondyloarthritis.	false
+ad12f77ead41c67b17a899cc679993ac0f352bc6	The diagnosis was suspected because of prolonged fever, with or without other manifestations, i.e. @PHENOTYPICFEATURE$, @DISEASE$, or paroxysmal atrial tachycardia.	false
+e5b9790f2fbb6adf4682e6b2557d3912e75e14f8	From November 2003 to December 2005, we prospectively screened two groups of children for CD, group I with diarrhea and group II without diarrhea but with atypical presentations (unexplained @PHENOTYPICFEATURE$, @DISEASE$, refractory rickets, chronic constipation and abdominal distension).	false
+88bdd70891b299226eb39f55b2d59a0595f646dd	@DISEASE$ with a @PHENOTYPICFEATURE$-like bony proliferative lesion in distal femur.	false
+364a95a19a6e09a56947b90463a36d4a443c10bf	Rationale for therapy in this patient was the observation that @PHENOTYPICFEATURE$ necrosis alpha antagonists have been successfully used in @DISEASE$, and since arthropathy was so prominent in our patient, we elected to use adalimumab combined with methotrexate.	false
+8fc4e1d4606fad967ab15f90ade0cbac3c1a6729	Spinocerebellar ataxia type 6 (@DISEASE$) is a rare, autosomal dominant neurodegenerative condition characterized by adult onset cerebellar ataxia and ocular @PHENOTYPICFEATURE$.	false
+d533b69254fc3d4ebbeceb0822f6285116f6929e	@DISEASE$ (SCA-6) is a rare, autosomal dominant neurodegenerative condition characterized by adult onset cerebellar ataxia and ocular @PHENOTYPICFEATURE$.	false
+a26022154e62156bce047d8fb3c0d83b988958ec	Papillon-Lefevre syndrome (@DISEASE$) is a rare disease characterized by skin lesions, which includes palmar-@PHENOTYPICFEATURE$ and hyperhidrosis with severe periodontal destruction involving both the primary and the permanent dentitions.	false
+9b81891fc2abc99118c66abe3861b242f7e1a237	@DISEASE$ (PLS) is a rare disease characterized by skin lesions, which includes palmar-@PHENOTYPICFEATURE$ and hyperhidrosis with severe periodontal destruction involving both the primary and the permanent dentitions.	false
+4a803652da65d15a79a74d710839236063b3e578	@DISEASE$ (PLS) is a rare autosomal recessive disorder, which is characterized by palmar-@PHENOTYPICFEATURE$, periodontitis, and premature loss of dentition.	false
+43e2594105cc9cb1671ae3d36b7e6ae3ced0fbba	Papillon Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder, which is characterized by palmar-@PHENOTYPICFEATURE$, periodontitis, and premature loss of dentition.	false
+0fabe0723b29a4790b00c7d575897364c267d5b9	Six Iranian patients with @DISEASE$ experienced premature tooth loss and palm @PHENOTYPICFEATURE$.	false
+dc10a3aac0c71f4a20fba809dd56ccbe0da23f0d	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder which is characterized by palmar-@PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+3d9d3c3a085ca547adf50a95e048c2161ae288ce	@DISEASE$ (PLS) is a rare autosomal recessive disorder which is characterized by palmar-@PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+2c63c733d280a54b78343b372cba64a3646e1469	Papillon-Lef?vre syndrome (@DISEASE$) is a rare autosomal disorder characterized by severe periodontitis and palmar @PHENOTYPICFEATURE$ (PPK).	false
+1ac0db98b578f3ff798785f94b69e15107d4d78c	Papillon-Lefevre Syndrome (@DISEASE$) is a rare autosomal recessive genodermatosis characterized by palmar-@PHENOTYPICFEATURE$, and destructive periodontitis.	false
+4780f084c31e236b981f238c3ffe3e2399d7a60d	@DISEASE$ (PLS) is a rare autosomal recessive genodermatosis characterized by palmar-@PHENOTYPICFEATURE$, and destructive periodontitis.	false
+9f1756633fa3a07af96d9c9dfe35759db39ef3dc	@DISEASE$ is characterized by the association between palmar @PHENOTYPICFEATURE$ (PPK) and severe precocious periodontitis that results in the premature loss of both the primary and secondary dentitions.	false
+3acae1173f814bcba0f8d38a1b457e243ea1686e	@DISEASE$: precocious periodontosis with palmar-@PHENOTYPICFEATURE$.	false
+058d7055448a5e16a3da05d9d56d010a92b40bee	@DISEASE$ (PLS) is a very rare, autosomal recessive syndrome characterized by palmar-@PHENOTYPICFEATURE$ and severe destructive periodontitis.	false
+4ec150322010c683b657d41cf7eba7d94d91f5a5	Papillon-Lefevre syndrome (@DISEASE$) is a very rare, autosomal recessive syndrome characterized by palmar-@PHENOTYPICFEATURE$ and severe destructive periodontitis.	false
+d258b07958c8baca24993ae1acc28dca8482b8c7	@DISEASE$ (PLS) is a rare autosomal recessive disorder characterized by palmar- @PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+0601ee810ddf483d529e3aadb84cf60279943655	Papillon-Lefevre syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by palmar- @PHENOTYPICFEATURE$ and rapid periodontal destruction of both primary and permanent dentitions.	false
+f23ccdf43db662232322bdf99b4be4018ac6cd89	Differential diagnoses comprise besides adenoma among others craniopharyngioma, meningioma, glioma, germinoma, @PHENOTYPICFEATURE$, aneurysm, trigeminal schwannoma, @DISEASE$, chordoma, metastasis, infection, and empty sella.	false
+b7e1c4556c300249643358c7464bc78768b40be6	MRI identified @PHENOTYPICFEATURE$ (@DISEASE$) in 2.0% of adult patients.	false
+97aa6c89f991e5e840ec505d5a47d9c4fe2c48b4	To explore the clinical characteristics and audiologic outcomes in children with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+a9df979c5e3e681b83a59a09258e2aa2f7155fda	Her mother was prelingually deaf and displayed @PHENOTYPICFEATURE$ (@DISEASE$) along with goiter.	false
+87c1b5ba6f2892db1f4ddeabd5b5f417afa9e176	@PHENOTYPICFEATURE$ (@DISEASE$) is an inner-ear malformation associated with sensorineural hearing impairment.	false
+451cd0cca70b7fd813361233d1023a9a4a1195c1	@PHENOTYPICFEATURE$ (@DISEASE$) is the most common inner ear malformation.	false
+2f86241b8ea3567a428a09cfb31d5500f99e4d54	@PHENOTYPICFEATURE$ (@DISEASE$) related with recurrent benign paroxysmal positional vertigo (BPPV).	false
+735ff5ad585520c3b81a2ed951655d9f97783045	To determine audiometric outcomes and complications of cochlear implantation in patients with @PHENOTYPICFEATURE$ (@DISEASE$).	false
+1c9e0d113e6a6d8541362a4d8dbe693d49f3c1f3	@PHENOTYPICFEATURE$ (@DISEASE$) and Mondini malformation (MM) of the cochlea.	false
+bdb7f6be13f5af12bd5c39f18c74ae23215cbd0a	Many SLC26A4 mutations have been identified in patients with nonsyndromic @PHENOTYPICFEATURE$ (@DISEASE$).	false
+5b5a114814fc70f53c4e01a278dee979f3d8af73	These features are generally accompanied by malformations of the inner ear, as @PHENOTYPICFEATURE$ (@DISEASE$).	false
+869486dbfa98e49c068b9be8def024c708d5562d	@DISEASE$ with macrocephaly and @PHENOTYPICFEATURE$ (? Ruvalcava-Myhre-Smith syndrome)--a case report.	false
+0873a359803f0b777ab1c5a18a6b9de45ac72a30	The rarity and importance of the diagnosis of @DISEASE$ associated with macrocephaly and @PHENOTYPICFEATURE$ (?Ruvalcava-Myhre-Smith syndrome) prompted the documentation of this case.	false
+38d3297341c30e51c2684c2f81a56236ba3d24f4	We present the case of a young adult harboring this recurrent deletion, in a context of @PHENOTYPICFEATURE$, ventricular septal defect and severe @DISEASE$ diagnosed at the age of 25 years, requiring a surgical preventive colectomy.	false
+ac1281df064de9e3bf59e04b3062f81aa156be14	A cytogenetically visible interstitial deletion of chromosome band 10q23 was found in a 6-year-old boy with @PHENOTYPICFEATURE$, dysmorphic features, and @DISEASE$ coli.	false
+77ad38c3a80acf64754a220b5d3d1f8dc547c762	Here, we report two unrelated patients with @DISEASE$, macrocephaly, @PHENOTYPICFEATURE$, and hyperpigmented skin macules.	false
+bc24666a82ddcf00b83b182a061b6735bf2963d5	@DISEASE$ or sternocleidomastoid @PHENOTYPICFEATURE$ of infancy is a condition of benign proliferation of fibrous tissue within the sternocleidomastoid muscle leading to focal or diffuse enlargement of the sternocleidomastoid muscle and is often clinically associated with torticollis.	false
+db24b89202e6c6200e94f90bd2efdc8a07a7676d	CMT may present as a palpable sternomastoid @PHENOTYPICFEATURE$ (SMT) or a simple tightness of the sternocleidomastoid muscle (SCM), designated as idiopathic muscular @DISEASE$ (IMT).	false
+c63ddd87b20d7ef81f7e6295834cb2c4773587a3	@DISEASE$ (FC), also known as sternocleidomastoid @PHENOTYPICFEATURE$ of infancy, is a benign spindle cell lesion of the sternocleidomastoid muscle.	false
+2c7aaf73d4ab30869c5813b869127f8e737e20f0	@DISEASE$ or sternocleidomastoid @PHENOTYPICFEATURE$ is a rare cause of benign neck mass in infants.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+6430ca630a8f0a8aef22c975ab2a8ec0568b7c18	The monitoring of UA levels in less invasive biological samples such as saliva is suggested for the diagnosis and therapy of gout, hyperuricemia, and the @DISEASE$, and for detecting such conditions as alcohol dependence, @PHENOTYPICFEATURE$, diabetes, high cholesterol, high blood pressure, kidney disease, and heart disease.	false
+d8d6a23269679d283c20b0bcb6ccd266f2fbb776	The @DISEASE$ is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and @PHENOTYPICFEATURE$.	false
+d655205575c3a8031b2fc60ed9cbbb8817bd588a	So far, the absence seizure models GAERS and WAG/Rij, audiogenic seizure models GEPR-3 and GEPR-9, @PHENOTYPICFEATURE$ models IER, NER and WER, and @DISEASE$ related epileptic models TRM and SER have been established.	false
+c10dcd912274e32164f96a70c425a42e01092ab1	These features included severe @DISEASE$ (ACC) of the scalp involving both skin and cranium, a shortened right foot with @PHENOTYPICFEATURE$, extensive cutis marmorata telangiectatica congenita and also haemangiomas and ulceration of the abdominal skin.	false
+2de7819db3276d6d79e690ff12f6a7ea4b4a9207	@DISEASE$, uvula bifida and bilateral @PHENOTYPICFEATURE$ in a girl with Naevus sebaceous syndrome.	false
+b3f20563b925b839a2bb8309707b06fb62c4e6b9	All patients with Adams-Oliver syndrome (@DISEASE$ and terminal @PHENOTYPICFEATURE$) should be evaluated for cardiac anomalies.	false
+c1b3c5778b642b6bb22f0431c11ea95f7df285f3	We report a child of consanguineous parents with @DISEASE$ and distal @PHENOTYPICFEATURE$.	false
+556f13cbe0d094f8c5ea2cf479cd73853635c8e4	and the rates of @PHENOTYPICFEATURE$ and @DISEASE$ may also be elevated.	false
+ea10d2c800df5d10df95416b1009f87079fa4f07	Detectable levels of @PHENOTYPICFEATURE$ and @DISEASE$ were evident even at 0.10 Gy.	false
+8713cabadfa0866819530c1df6a5abb5e871b945	[@DISEASE$ associated with @PHENOTYPICFEATURE$ and pseudohermaphroditism (Rostockiensis type)].	false
+8278d4f26a879d985c2ff5ba110769dd0e624105	The unique features, including unilateral @DISEASE$ and @PHENOTYPICFEATURE$, were unlikely to be caused by the microdeletion.	false
+43364f186759e5d7cd1148e3bb24a567fd3853d7	The 2-month-old male patient first presented with bilateral @PHENOTYPICFEATURE$ associated with @DISEASE$, corneal opacity, and dysplasia of the anterior segment.	false
+3678414a1c2398104666cfb70ab07f819d49142e	Nineteen probands with @PHENOTYPICFEATURE$, one proband with optic nerve malformation, and two probands with @DISEASE$ were also sequenced.	false
+77b4a051b2a980946c221b80e70922819fd05c58	@DISEASE$ and distal @PHENOTYPICFEATURE$ in a child of consanguineous parents.	false
+2289aa6d8771d222f1854c43f48d44d72fafbb09	A boy presented in early infancy with @DISEASE$, congenital cataracts, and @PHENOTYPICFEATURE$.	false
+b7841c22236fe92b129e3bb85a2d6d2272be7d8d	Glaucoma is frequently observed in patients with @PHENOTYPICFEATURE$?(ASD), microcornea or @DISEASE$.	false
+49fb225ea02469afaa264e6e48141579fac1a613	The consistency of the anatomical distribution of the @PHENOTYPICFEATURE$, in the setting of a uniform OI phenotype, is suggestive of syndromic @DISEASE$.	false
+eb606fc57c521ba9b3fd1d4381f2f79ade414ae5	Rarely, @DISEASE$ @PHENOTYPICFEATURE$ without known TIO may be observed.	false
+fa4e3c4570411aa3aeebc891261e96be2b88f4e8	All patients had slowly progressive neurodegeneration with central and peripheral involvement and @DISEASE$ @PHENOTYPICFEATURE$.	false
+5557846a98148d4b832cc53d066cfc61da3b47a8	Rapid ADC pattern changes in @DISEASE$ probably reflect dynamic lesion evolution and may distinguish IDD from @PHENOTYPICFEATURE$.	false
+f36d4a080d18ad0a8249da333702bf36ebe68871	Rapid ADC pattern changes in IDD probably reflect dynamic lesion evolution and may distinguish @DISEASE$ from @PHENOTYPICFEATURE$.	false
+b2bdb18a12742859702af04f782059b14b93bc7b	These differences were also present in morphologically @DISEASE$ @PHENOTYPICFEATURE$.	false
+623527ea5acf407164c3893dcf9284bde95a27f0	Proteomic applications for differential diagnosis of histologically @DISEASE$ @PHENOTYPICFEATURE$.	false
+745bd43ca57ea6a306497ae344f76600ec55eb7d	Ipsilateral tumours of differing histological types and @DISEASE$ @PHENOTYPICFEATURE$ other than Wartin's were uncommon.	false
+85354c931c78304b6930dc915bbc583bb679ae99	Ipsilateral @PHENOTYPICFEATURE$ of differing histological types and @DISEASE$ tumours other than Wartin's were uncommon.	false
+b5464dcc08840b52c7db9c0f07cee7e38f2fae78	Approximately 40-45% of insulin-dependent diabetic (@DISEASE$) patients will develop, with time, clinical proteinuria, a forerunner of certain @PHENOTYPICFEATURE$.	false
+00b9b6abc476b01543abab058409cdaab70513b2	Four cases of @DISEASE$ @PHENOTYPICFEATURE$ associated with the infra-orbital nerve.	false
+e8fa311cb0443c1de42ed636b0de79f42b83dd4d	Proteomic @DISEASE$ of @PHENOTYPICFEATURE$-associated protein in ovarian serous cystadenocarinoma.	false
+303de2121f2273aa5eab63068ac2069875a4dac1	In addition, the authors identified the first pathogenic duplication in CACNA1A in an index case with isolated episodic @PHENOTYPICFEATURE$ without ataxia and in a first degree relative with @DISEASE$.	false
+6f234127e6cfb104d9018dae9d94aacd026ab072	Multiple endocrine adenomatosis presenting as @DISEASE$, nonbeta islet cell adenoma, parathyroid adenoma, renal calculi, bronchial carcinoid, insulinoma, hepatic @PHENOTYPICFEATURE$, etc.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+77925e40f00d0fdf272cdea84406fcadd12fc282	In all associated syndromes, namely @DISEASE$, cerebellar ataxia, epilepsy, limbic encephalitis or @PHENOTYPICFEATURE$, anti-GAD antibodies are detected at high titers and play a fundamental role in diagnosis, but do not correlate with disease severity, diversity of symptomatology or response to therapies.	false
+9a8ef89922340e6e270771bb03096ee386264eec	Their neurological symptoms included @DISEASE$ (SPS), encephalitis, myelitis, cramp, @PHENOTYPICFEATURE$, and paresthesia.	false
+b018c5a7861d9c95e24711e42584bb4a00a8a6d4	For other syndromes, including cerebellar degeneration, multifocal encephalomyelitis, sensory neuronopathy, limbic encephalitis, opsoclonus-myoclonus, @DISEASE$, and @PHENOTYPICFEATURE$, the autoimmune theory is supported by the presence of specific antineuronal antibodies.	false
+152e4c4f58a8df8ed12d684d0dbd686bd6204cf6	@DISEASE$ with @PHENOTYPICFEATURE$, myasthenia gravis, and thymoma.	false
+377eaa879d62eeaa0a89840f9e03c94cb09eff24	The presence of @DISEASE$, in particular lower @PHENOTYPICFEATURE$, was assessed annually over a three year period using a postal questionnaire.	false
+b0a4751dcb97bfe25c6d94efc057ac400ef26ebf	Same sex twin pairs enrolled in the Australian Twin Registry completed a structured interview that included questions related to symptoms consistent with @DISEASE$: @PHENOTYPICFEATURE$, diarrhea, constipation, excessive gas or bloating, and nausea.	false
+bd4a76468ee611d5376b0e7ac639cfe52c4fe265	@DISEASE$ yielded excellent results in 99 patients (74%), while 17 cases (13%) had mild ongoing @PHENOTYPICFEATURE$/dysmotility.	false
+76699e94573b98aa8815d8a37d5da9472c266904	The aim of this study was to assess the clinical efficacy and safety of cognitive-behavioral therapy (CBT) against education (EDU) and desipramine (DES) against placebo (PLA) in female patients with moderate to severe FBD (irritable bowel syndrome, functional @PHENOTYPICFEATURE$, painful constipation, and unspecified @DISEASE$).	false
+c8f964d8432fc63ab5efedf2f896edf3f6d5793b	The aim of this study was to assess the clinical efficacy and safety of cognitive-behavioral therapy (CBT) against education (EDU) and desipramine (DES) against placebo (PLA) in female patients with moderate to severe @DISEASE$ (irritable bowel syndrome, functional @PHENOTYPICFEATURE$, painful constipation, and unspecified FBD).	false
+2377a0e128193ae6cbf8ab6f29190d7b898e3dd6	Irritable bowel syndrome (IBS) is one of the most common functional bowel disorders (@DISEASE$), which is characterized by recurrent @PHENOTYPICFEATURE$, abdominal bloating/distention associated with defecation or changed bowel habits.	false
+4249dae6076f1a05302bdbe9dc97830949bd83df	@DISEASE$ (CAA) caused by amyloid ? (A?) deposition around brain microvessels is a human neurovascular degenerative disease that is characterized by an early onset of recurrent stroke episodes, vascular @PHENOTYPICFEATURE$ changes, and moderate to severe clinical presentations.	false
+4083b3089ae0a78df12d12a9154f226b678b1214	Omega-3 fatty acid supplementation in patients with unresectable pancreatic and @DISEASE$ may improve cancer @PHENOTYPICFEATURE$.	false
+736629ae94eeaf84f75ff531e7814078ad43fd12	Omega-3 fatty acids may improve cancer @PHENOTYPICFEATURE$, but only in patients with pancreatic and @DISEASE$.	false
+e4a46cf4e0ffd24d73e62a3fcf994d60bdead3ee	@DISEASE$ or co-occurrence of @PHENOTYPICFEATURE$, short forearm and muscular hypertrophy had represented the most potent markers to determine the likelihood of SHOX gene defect detection.	false
+47706d4ad10a653b61675b19ffdb9a4905b24414	L?ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0736d2a7d4fd7fe7e4641f58785880fb09558d27	A radical surgical excision of the @PHENOTYPICFEATURE$ was carried out, and the histopathological diagnosis was an @DISEASE$.	false
+b158d0022b829e2dbe1235c61ae7d2aea4a6bcf5	The @PHENOTYPICFEATURE$ was histologically diagnosed as @DISEASE$.	false
+8b1127fe8d3f72f0d4639f1962d89ef8930d31f8	@DISEASE$ (AO) is an uncommon intracranial @PHENOTYPICFEATURE$ and prognosis is poor.	false
+19fd2cf37893600d8d476cf6a743244009299965	Collision @PHENOTYPICFEATURE$ of @DISEASE$ and gangliocytoma: a case report.	false
+ba01537aa057e26d9dd2f4abed0828f8bac19d8c	Primary intramedullary @DISEASE$ is a rare @PHENOTYPICFEATURE$, only four cases of which have been reported.	false
+d7a665a089282d6a7a8f4aa38830fc9138e36c6d	Postsurgical pathological assessment confirmed the @PHENOTYPICFEATURE$ to be an @DISEASE$ (WHO grade III).	false
+a685ca5b3767920763e84de0021596b998caad86	@DISEASE$ are chemotherapy-sensitive @PHENOTYPICFEATURE$.	false
+3e3bccb4aef3f02337059d4c72827ac4b0e25298	Pathological and genetic evaluation showed the @PHENOTYPICFEATURE$ to be an @DISEASE$.	false
+22ea1acea1c948ec26ff595d649fa9dffd1f334d	A cerebellar @PHENOTYPICFEATURE$, first diagnosed as an @DISEASE$, received radiation therapy (45 Gy) following gross total resection.	false
+8a68c8e33fd23565995c057bb0ec739200279ee5	Refractory @DISEASE$ and oligoastrocytoma @PHENOTYPICFEATURE$ are challenging to treat.	false
+0be9b0f5cc0e5ce3ed04eae815d785f7888801af	Brain lesions in some patients with @DISEASE$ spectrum disorder (NMOSD) may be accompanied by vasogenic @PHENOTYPICFEATURE$ and manifest as posterior reversible encephalopathy syndrome (PRES).	false
+b2160acc2f8947a1c8b60b14ef661101966b18e5	@PHENOTYPICFEATURE$ in a Chinese patient born to a mother with @DISEASE$ spectrum disorder.	false
+62afcc3ccc679b18430ed94be1d4173ebc056d38	Occurrence of acute large and @PHENOTYPICFEATURE$ callosal lesions in @DISEASE$.	false
+133dbb4139fa4cbd213a642f87fe400db5b454b7	AQP4, the predominant water channel in the CNS, is involved both in the astrocyte swelling of cytotoxic edema and the resolution of vasogenic @PHENOTYPICFEATURE$, and is of pivotal importance in the pathology of brain disorders such as @DISEASE$ , brain tumors and Alzheimer's disease.	false
+bf20605a77c8c522bfa067b52a2e01a62cef5c7c	AQP4, the predominant water channel in the CNS, is involved both in the astrocyte swelling of cytotoxic @PHENOTYPICFEATURE$ and the resolution of vasogenic edema, and is of pivotal importance in the pathology of brain disorders such as @DISEASE$ , brain tumors and Alzheimer's disease.	false
+a4ea7e7c31f868ad7c96620054d3d62c625d9419	Within 12 h of co-injecting immunoglobulin G from @DISEASE$ patients and human complement, there was a striking loss of aquaporin-4 expression, glial cell @PHENOTYPICFEATURE$, myelin breakdown and axonal injury, but little intra-parenchymal inflammation.	false
+1f244de2b935e1d02383b9677b0613291cc7eff4	Among thirteen different mammalian AQPs, AQP1 and AQP4 have been mainly studied in the CNS and evidence has been presented that they play important roles in the pathogenesis of CNS injury, @PHENOTYPICFEATURE$ and multiple diseases such as multiple sclerosis, @DISEASE$ spectrum disorders, amyotrophic lateral sclerosis, glioblastoma multiforme, Alzheimer's disease and Parkinson's disease.	false
+6d053ceb6506c2ffaa5a7b9ba66a84c414a06769	Intractable hiccup and vomiting, neuropathic @PHENOTYPICFEATURE$ and tonic spasms in a case of @DISEASE$ spectrum disorder.	false
+d950b611074a9388dc9c394927d1c203ddc87325	Previous case reports have demonstrated that callosal lesions in @DISEASE$ are usually large and @PHENOTYPICFEATURE$ and have a heterogeneous intensity showing a "marbled pattern" in the acute phase.	false
+60ed5c54b5ad8dfe18cd620f7d2c61404defe15d	Pediatric optic neuritis usually is bilateral and presents with optic disc @PHENOTYPICFEATURE$, recovers rapidly with steroid therapy, and generally has low conversion rate to multiple sclerosis or @DISEASE$ spectrum disorder.	false
+071ac2014d242c8c28db4a2cf14cf5fd9e9d71ba	We present the biochemical and molecular diagnosis of dihydrolipoamide dehydrogenase deficiency (also known as E3 deficiency) and @DISEASE$ in a 14-year-old girl with learning disability and episodic @PHENOTYPICFEATURE$ and ketoacidosis.	false
+d41dced7b9467b85aae03f71c676e6decee9b458	Here, we describe two siblings, born to consanguineous parents, who presented with @PHENOTYPICFEATURE$, developmental regression, hypotonia, pathognomonic brain imaging findings resembling @DISEASE$, and a novel homozygous variant on COX4I1, expanding the known clinical phenotype associated with pathogenic variants in COX4I1.	false
+38320b1650aca10fe64e6615114abcab47b15519	Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, @DISEASE$ carcinoma, and @PHENOTYPICFEATURE$ colorectal cancers from TCGA.	false
+ede06bfc073782409e2d7e573b3102131577e1dc	Several diseases result in gray matter abnormalities, including central pontine myelinolysis, MELAS syndrome (mitochondrial myopathy, @PHENOTYPICFEATURE$, lactic acidosis, and stroke-like symptoms), Batten's disease, @DISEASE$, and Wilson's disease.	false
+55245fadbd1a48e68f01eb153aa71c09b2a50b97	@DISEASE$ (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation pathway that result in early @PHENOTYPICFEATURE$ and death in affected young children.	false
+6f07632368f10d6efbf5f0a7b4a14c8b83c2dd95	(2) In our clinical diagnosis, there were 10 cases (20.8%) with @DISEASE$ and one case each with myopathy, @PHENOTYPICFEATURE$, lactic acidosis, stroke-like episodes (MELAS) or Alpers' disease (2.1%).	false
+df4761b5a3459fe1a436ac7a1f79b9dad56b127a	We conclude that patients presenting at age >12?months with relapsing ataxia and possibly @DISEASE$ are more likely to be thiamine responsive than those presenting with neonatal lactic acidosis and @PHENOTYPICFEATURE$.	false
+493eba8048710ce69179f4e151607f62bb448c52	All of the patients with mutations in SURF-1 had @DISEASE$, whereas the 3 patients with SCO2 mutations had a combination of @PHENOTYPICFEATURE$ and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome.	false
+26d2612bbf08990155d57c98ef257b33e304313c	All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of @PHENOTYPICFEATURE$ and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of @DISEASE$.	false
+66bfdb23edf4d66c890ecb0cceeb90ecc0661ad0	Thiamine responsiveness is more likely in patients presenting at age >12?months with relapsing ataxia and possibly @DISEASE$ than in those presenting with neonatal lactic acidosis and @PHENOTYPICFEATURE$.	false
+395ddc94d3bf8d2db52e7015cfdb53b5a6297cb4	Clinical symptoms including failure to thrive, @PHENOTYPICFEATURE$, hypotony, @DISEASE$, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood.	false
+3842225c6b190d0e2b575d4bda4b985625d9dea6	@DISEASE$ is characterized by colobomas, @PHENOTYPICFEATURE$, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including conductive hearing loss.	false
+772685de96ee54d83301c45f721c6c9b5bc47b8e	The "@DISEASE$ (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, @PHENOTYPICFEATURE$, Ichthyosiform dermatosis, Mental retardation, and Ear defects.	false
+6f5e7dea29e4caca02f94695e65db330e855319a	Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with @DISEASE$, a rare autosomal recessive disorder characterized by colobomas, @PHENOTYPICFEATURE$, early onset migratory ichthyosiform dermatosis, intellectual disability, and ear abnormalities.	false
+d5b4abd984b6807d3117ab8f7bbb6aa67f8dbee3	Our patient did not have colobomas, @PHENOTYPICFEATURE$, or early onset migratory ichthyosiform dermatosis and hence was diagnosed with HPMRS, and not @DISEASE$.	false
+727b23775919d3d1462e2e15f632535ddfb11ee8	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by @PHENOTYPICFEATURE$, seizures, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+b152f570625106e7afd290b6d4a82cb66bc57c5d	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by mental retardation, @PHENOTYPICFEATURE$, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+73d5d7e7d20ec44155326e9b4ed976620f293244	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe @PHENOTYPICFEATURE$ and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+ee0228cb2a0507a27f143f81637e43f6b69c029d	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, @PHENOTYPICFEATURE$ language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+09e4cd04e3637d4c481f61f7e053f62d6175dcf6	However, other inborn @DISEASE$ may present within the first 10 days of life with severe illness, particularly neonatal @PHENOTYPICFEATURE$.	false
+0454e6aad1fb975ad63e938643a6dc9b549fd754	We studied 26 children with inborn @DISEASE$ of urea synthesis who survived neonatal hyperammonemic @PHENOTYPICFEATURE$.	false
+ec95bc979cbbee1c2e5b497d692c643bdc14eda0	Metabolic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1225912dc73303d04e8b1d8e9563ffb35b3671f3	Etiologic factors in @PHENOTYPICFEATURE$; @DISEASE$ of metabolism that may lead to mental deficiency.	false
+a46a5c8d898563a407bee720c30cf57dcc5e3a11	Etiologic factors in mental deficiency; @DISEASE$ of metabolism that may lead to @PHENOTYPICFEATURE$.	false
+1c010e6728147781b09afd8d1b1c928dd9d23d81	Arginine:glycine amidinotransferase deficiency is a treatable inborn @DISEASE$ of creatine synthesis, characterized by @PHENOTYPICFEATURE$, language impairment, and behavioral disorders.	false
+f50caef4bce595ce9e1fd051f864f57003884518	Arginine:glycine amidinotransferase deficiency is a treatable inborn @DISEASE$ of creatine synthesis, characterized by mental retardation, @PHENOTYPICFEATURE$, and behavioral disorders.	false
+9a9083b6f355e55df3249018ac066f7e3ab2c916	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+dc78c3d596eed613fb71855ded6596f398ec87ad	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by @PHENOTYPICFEATURE$, psychomotor retardation and seizures.	false
+5b2b4c2dcb6d5cfdc290b0c5a1abd88df4a0400a	[Diagnostic @DISEASE$ of @PHENOTYPICFEATURE$ of neurometabolic origin confirmed by mass sequential spectrometry].	false
+e0cabebc482b2774d134186fea0626240b810a6c	The Sj?gren-Larsson syndrome (SLS) is an inborn @DISEASE$ of lipid metabolism, characterised clinically by congenital ichthyosis, @PHENOTYPICFEATURE$ and spasticity.	false
+e290a4123a6eddd9f9920df82f7d712ef9ee8e1d	The Sj?gren-Larsson syndrome (SLS) is an inborn @DISEASE$ of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and @PHENOTYPICFEATURE$.	false
+06d59b1b7ddd5e45034f8df3a95688d7f1188fa6	Particularly noteworthy are @DISEASE$, asymmetric septal hypertrophy, floppy mitral valve syndrome, angina pectoris with normal coronary arteries, hyperventilation syndrome, neurogenic T wave abnormalities, vasoregulatory abnormality, cervicoprecordial angina, @PHENOTYPICFEATURE$ or hypokalemia, left ventricular hypertrophy, and left anterior fascicular block.	false
+b5ccd630ede4ec2f724351a6518fa2571e85b3e2	The dyskinetic segment activated by a right septal AP in @DISEASE$ syndrome may lead to @PHENOTYPICFEATURE$ and dysfunction.	false
+2bdd0721f0c7a61414e2e4f37e227bd83301632f	The policy of limiting medical intervention in newborns with @DISEASE$ due to the broad spectrum of severe congenital malformations, @PHENOTYPICFEATURE$ and reduced life expectancy is unanimously accepted, but yet difficult to apply from an ethical point of view.	false
+f5720839763646d587e0d4d5158453e6e2bf3bc7	Sixteen selected defects (anencephaly, @PHENOTYPICFEATURE$, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, @DISEASE$ and Patau syndrome) were analyzed in detail.	false
+ee1b2b33f87b7ee71165bf565342de72b6e8b9a5	By including defects detected among elective terminations before 20 weeks, the number of cases increased by five percent or greater for nine conditions: anencephaly (29%); @PHENOTYPICFEATURE$ without anencephaly (13%); encephalocele (21%); Patau syndrome (19%); @DISEASE$ (11%); Down syndrome (6%); omphalocele (15%); gastroschisis (5%); and anophthalmia (7%).	false
+ad6d3f6a5898633c40b125ec869de9fdf43238e6	Constitutional trisomy 18 causes @DISEASE$, which is characterized by @PHENOTYPICFEATURE$ and a particular set of malformations.	false
+7119bc761003d3fcbcec0cf57d718d15110078a1	During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), @PHENOTYPICFEATURE$ 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left heart syndrome 0.7 - 2.3 (2.2 - 4.3), Fallot tetralogy 2.6 - 4.0 (3.2 - 4.4), omphalocele 1.0 - 1.7 (1.8 - 3.8), gastroschisis 0.2 - 1.2 (2.4 - 3.4), diaphragmatic hernia 1.3 - 2.9 (1.5 - 3.9), Down syndrome 3.3 - 6.5 (15.8 - 22.2), @DISEASE$ 0.2 - 1.0 (3.5 - 5.8) and Patau syndrome 0.2 - 1.0 (1.2 - 2.6).	false
+fa19227752f2a95809dc94e8a015188c4a1d04a8	We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left @PHENOTYPICFEATURE$, typical facial appearance for @DISEASE$, and cecal duplication cyst.	false
+a5e6340e63b010ca9dd17406d6ca2e6a80252676	Multiple central nervous system abnormalities have been reported in @DISEASE$, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, @PHENOTYPICFEATURE$, enlarged ventricles, and hypoplasia of the olfactory bulbs.	false
+c86d4b86be81802abd7878dc4aa3b22b886fb83f	We report on a child with @DISEASE$ who showed a characteristic coarse hirsute facial appearance, bilateral cleft lip and palate, cardiac and @PHENOTYPICFEATURE$, dilated bowel and distal limb abnormalities.	false
+69ef253b8a1d8cebb13c7f6b2eed82fac41077ef	We report on a case of @DISEASE$ with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and @PHENOTYPICFEATURE$, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia.	false
+26671388938bca6c23a46e0cb78741e4d5c442ee	A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, @PHENOTYPICFEATURE$ and Dandy-Walker malformation suggested a diagnosis of @DISEASE$.	false
+d29553703ea76e4e91446b42a129a20e65f40a4c	At present, four loci associated with non?syndromic auditory neuropathy have been mapped: Autosomal recessive @PHENOTYPICFEATURE$?9 [DFNB9; the otoferlin (OTOF) gene] and @DISEASE$ [DFNB59; the pejvakin (PJVK) gene], associated with autosomal recessive inheritance; the autosomal dominant auditory neuropathy gene [AUNA1; the diaphanous?3 (DIAPH3) gene]; and AUNX1, linked to chromosome?X.	false
+259b8fa52c2531dd76ab30887d533db1b62326a5	Using whole-exome sequencing, we identified variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis, in four individuals from two families with @DISEASE$, prenatal onset @PHENOTYPICFEATURE$, and arthrogryposis.	false
+b4d921ae02dc11273c067d22fc6668871c3275cc	The four patients had typical skeletal and ocular phenotypes of OPS, namely severe @DISEASE$ and early-onset visual disturbance, with or without @PHENOTYPICFEATURE$.	false
+13079152814ab1aa331b6065b4d97ae2b7397434	[Uncommon form of @DISEASE$ with hypercalciuria, growth retardation and @PHENOTYPICFEATURE$].	false
+89eee82c28ca5dc2a0c9edbcd84110fd2b4ae57a	@DISEASE$ is a rare inherited disease characterized clinically by haematuria, renal failure and @PHENOTYPICFEATURE$, and ultrastructurally by a lamellated glomerular basement membrane (GBM).	false
+016b571699ebb15018cdb45e8adb7b7bceaafd84	The aim of this study was to determine the relationship between meningitis and neonatal period of complications such as massive intraventricular hemorrhage and into brain tissue, hypoxic-ischemic white matter injury @DISEASE$ 3-5 degrees and @PHENOTYPICFEATURE$ in infants born prematurely from single and multiple pregnancies.	false
+351a26507b0637f9a05e2848a74169732a1de4c5	The @DISEASE$: a rare pediatric @PHENOTYPICFEATURE$.	false
+15a5a1a5c1782784bcb922bd7efa7f8007212150	Prader-Willi syndrome (PWS) is a @DISEASE$ syndrome characterized by hyperphagia, behavioural disturbance and @PHENOTYPICFEATURE$.	false
+d9e221133edcaf580384cef45cefce92b411a38d	Syndromic @DISEASE$ typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as @PHENOTYPICFEATURE$, dysmorphic features and organ-specific abnormalities.	false
+686e9fe1ec8f267c13391a5efae72afc24a801d0	Prader-Willi syndrome (PWS) is the most common form of dysmorphic @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+bb52b7c84be17374b24cc142fa51a1f330ab312b	In vivo assays demonstrate that RPL34 silencing inhibits @DISEASE$ @PHENOTYPICFEATURE$ growth and metastasis.	false
+b35a0672723dc6ca8525323a7eeb6db648df3e68	Syndromes included are "circumferential skin creases Kunze type" and "unusual type of @DISEASE$ or a new syndrome"; autoinflammatory diseases include "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome," "pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome," and "pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH) syndrome"; @PHENOTYPICFEATURE$ include "acquired reactive digital fibroma," "onychocytic matricoma and onychocytic carcinoma," "infundibulocystic nail bed squamous cell carcinoma," and "acral histiocytic nodules"; unclassified disorders include "saurian papulosis," "symmetrical acrokeratoderma," "confetti-like macular atrophy," and "skin spicules," "erythema papulosa semicircularis recidivans."	false
+e9fb9a60a33efb7e4b379be94fc53fdfb29b63f1	Thus, the aim of this study was to compare the effects of statins and bisphosphonates on the metabolism (NADP?/NADPH-relation) of highly proliferative @PHENOTYPICFEATURE$ cell lines from different origins (@DISEASE$-3 prostate carcinoma, MDA-MB-231 breast cancer, U-2 OS osteosarcoma) versus cells with a slower proliferation rate like MG-63 osteosarcoma cells.	false
+938b7a3199191dd99b7cd57c4d1297aa87949c45	IDO positive, B7-H1 positive, and combined IDO/B7-H1 positive @PHENOTYPICFEATURE$ exhibited significant correlations with lymphocytic infiltration, perineural invasion, TNM status, and pathologic grade (p?<?.05), which tended to show strong correlations with malignant progression of @DISEASE$.	false
+79613a86ba57fb64ef7ccdb415674fce0212dc2b	Switching from insulin to sulfonylurea treatment leads to the definitive discontinuance of insulin therapy, improving metabolic control as well as the amelioration of the associated neurodevelopmental @PHENOTYPICFEATURE$ in the young girl in which an intermediate @DISEASE$ was diagnosed.	false
+942c0e38d2ef7a1b6626710e60016d16e32fa789	They also may cause neurologic symptoms such as @PHENOTYPICFEATURE$ and motor problems (iDEND syndrome) and epilepsy (@DISEASE$).	false
+38ba00ca8df63729de16b0133bf068f0b238d86b	We support the theory that @DISEASE$ is a @PHENOTYPICFEATURE$ lesion, and propose as a paradigm the association between cardiac rhabdomyoma and tuberous sclerosis.	false
+355c071fe644a2a13e39a9eecb77505e9fe6279a	The other benign tumors were nine fibromas, five lipomatous tumors, seven valvular fibroelastic papillomas, and one cardiac @PHENOTYPICFEATURE$ (so-called @DISEASE$).	false
+ef0a00fce7c0560c9cc07946d8ded4d6ff463074	@DISEASE$ is considered to be the result of @PHENOTYPICFEATURE$-like aggregations of cardiac myocytes with features similar to those of oncocytes.	false
+e5171e1e27dccb16be0c727236777f90c4652c51	This entity has only rarely been reported and must be distinguished from the much more common rhabdomyoma and from @DISEASE$, which is also referred to as "cardiac @PHENOTYPICFEATURE$."	false
+db3c1d3b9403c00bd43f8ec897f8385433b46dab	@DISEASE$, @PHENOTYPICFEATURE$ and omphalocele are among the commonest skeletal and abdominal wall defects of newborns, but their genetic etiologies are largely unknown.	false
+846d7482ce07e177bd903361b9b8bf48ce6a8c05	Isolated and non-isolated birth defect cases of critical congenital heart defects, @DISEASE$, and @PHENOTYPICFEATURE$ were identified from the Florida Birth Defects Registry.	false
+0c593650c30124ccb3e77ac16a1a77841ff8af62	Genotype frequencies for the BHMT2 rs626105 polymorphism also did not reveal any elevated risks for @PHENOTYPICFEATURE$, and only a modest, imprecise elevation of risk for @DISEASE$.	false
+9a83ba77e96e7a57df8bbc27247304fbc412d079	@DISEASE$ and @PHENOTYPICFEATURE$: N-acetyltransferase phenotype, maternal smoking, and medication use.	false
+2dd5edf21cfa49eb30f1953e0c2fc9af7430a2b5	@DISEASE$ and @PHENOTYPICFEATURE$ are midline defects with a multifactorial etiology.	false
+d2e7d778a6cfa2729b6f9d594ae68e325600271b	The studies were of predictive genetic testing for Huntington's disease, @DISEASE$, familial adenomatous polyposis and spinocerebellar @PHENOTYPICFEATURE$.	false
+b63239fc51782f5d9ff8fb4d2100fb4380fdcb0d	There is not enough evidence for a genetic link between HS-RDEB and @DISEASE$, but repeated @PHENOTYPICFEATURE$ may be involved in the pathophysiology of the renal disease.	false
+9261905ccd88d7cdf69621bead36387e6551247b	Summary of Neuromuscular Presentations at the 57 Annual AAN 2005 meeting in Miami Florida on topics of Facioscapulohumeral muscular dystrophy (FSHD), Duchenne muscular dystrophy (DMD), Diabetic Neuropathy, Charco Marie Tooth disease (CMT), Comparison of injected steroids versus Surgery for carpal tunnel syndrome, Rituximab in Anti-MAG associated polyneuropathy, Cannabis based medicine (CBM) in the treatment of neuropathic pain, utility of skin biopsy with intraepidermal nerve fiber density (IENFD) in sensory complaints, comparing sympathetic skin responses (SSRs) and skin biopsy in diagnosing small fiber @PHENOTYPICFEATURE$, @DISEASE$ (CIDP) clinical and electrophysiologic predictors, affect of limb warming in mild ulnar nerve conduction study (NCS) abnormalities, Tamoxifen affect in ALS, open label study of 3,4 DAP, Pyridostigmine and Ephedrine in fast channel syndrome, Mexilitine as an antimyotonia treatment in myotonic dystrophy (DM1), frontal lobe impairment evaluation in DM1 and DM2 patients and phenotype-genotype correlation in patients with dysferlinopathy.	false
+44ed370adf560dc8824cefcb687e922e809d46cc	Sera of some patients with acquired @PHENOTYPICFEATURE$, @DISEASE$ and motor neuron disease have high titres of IgG autoantibodies to a minor human peripheral nerve glycoprotein of approximately 36 kDa.	false
+614faa208639d1a7744461cec292f2afb5750d0a	24 consecutive patients with refractory and symptomatic PN from diabetes, @DISEASE$ (CIDP), pernicious anemia, mercury poisoning, paraneoplastic syndrome, tarsal tunnel, and idiopathic @PHENOTYPICFEATURE$ were enrolled in this nonplacebo pilot study.	false
+936fbe8b14bf0f1308f1e4b51c5a8fe475b7964b	@DISEASE$ (CIDP) and hereditary motor @PHENOTYPICFEATURE$ type 1 (HMSN-1) are representative myelinopathies.	false
+1a7ef66ed229e877328261c2182262b92ef893d7	To quantify decreased electrical excitability, stimulation-response curves and the current needed to achieve 90% of the maximal compound muscle action potential amplitude, i90, were obtained in 17 healthy controls, eight patients with Guillain-Barre syndrome, 14 with @DISEASE$, and 10 with hereditary motor @PHENOTYPICFEATURE$ type I. Decreased electrical excitability was found in patients with chronic inflammatory demyelinating polyneuropathy and hereditary motor sensory neuropathy type I, by contrast with patients with Guillain-Barr? syndrome.	false
+e7661e183f0e773fa640d07964c1cb90ae32d60e	To quantify decreased electrical excitability, stimulation-response curves and the current needed to achieve 90% of the maximal compound muscle action potential amplitude, i90, were obtained in 17 healthy controls, eight patients with Guillain-Barre syndrome, 14 with chronic inflammatory demyelinating polyneuropathy, and 10 with hereditary motor @PHENOTYPICFEATURE$ type I. Decreased electrical excitability was found in patients with @DISEASE$ and hereditary motor sensory neuropathy type I, by contrast with patients with Guillain-Barr? syndrome.	false
+725c6ea7c617d7e5a7863d79e763cea912beef50	To quantify decreased electrical excitability, stimulation-response curves and the current needed to achieve 90% of the maximal compound muscle action potential amplitude, i90, were obtained in 17 healthy controls, eight patients with Guillain-Barre syndrome, 14 with @DISEASE$, and 10 with hereditary motor sensory neuropathy type I. Decreased electrical excitability was found in patients with chronic inflammatory demyelinating polyneuropathy and hereditary motor @PHENOTYPICFEATURE$ type I, by contrast with patients with Guillain-Barr? syndrome.	false
+2b5a75046b1f55b72d8d6fa3f2af64f0856a941a	To quantify decreased electrical excitability, stimulation-response curves and the current needed to achieve 90% of the maximal compound muscle action potential amplitude, i90, were obtained in 17 healthy controls, eight patients with Guillain-Barre syndrome, 14 with chronic inflammatory demyelinating polyneuropathy, and 10 with hereditary motor sensory neuropathy type I. Decreased electrical excitability was found in patients with @DISEASE$ and hereditary motor @PHENOTYPICFEATURE$ type I, by contrast with patients with Guillain-Barr? syndrome.	false
+a40a84794d1082af3c69ce14ee5c5b9842f60943	Although the clinical and electrodiagnostic manifestations most resemble those of @DISEASE$, some patients manifest a pure @PHENOTYPICFEATURE$ or neuronopathy.	false
+ac57e94e4cd3c6106b3dc650f7934607f138aaaf	Recommendations for use of IVIG were made for 14 conditions, including acute disseminated encephalomyelitis, @DISEASE$, dermatomyositis, diabetic neuropathy, Guillain-Barr? syndrome, Lambert-Eaton myasthenic syndrome, multifocal motor neuropathy, multiple sclerosis, myasthenia gravis, opsoclonus-myoclonus, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, polymyositis, Rasmussen's encephalitis, and stiff person syndrome; IVIG was not recommended for 8 conditions including adrenoleukodystrophy, amyotropic lateral sclerosis, @PHENOTYPICFEATURE$, critical illness polyneuropathy, inclusion body, myositis, intractable childhood epilepsy, paraproteinemic neuropathy (IgM variant), and POEMS syndrome.	false
+cd325bb687dcff6c920c65772cb972be0f2dd8ad	Together, these complementary modalities can aid decision making about the best management strategy by facilitating the identification and characterization of inner @DISEASE$ and any associated @PHENOTYPICFEATURE$.	false
+3053293be9b850b5194638c7312cefa02fcd7fa6	@DISEASE$ (CMPD), a rare congenital disorder, is characterized by a variety of @PHENOTYPICFEATURE$, low-set ears and, in nearly half of genotypical-male patients, sex reversal.	false
+0a1968b20ebf3de8ecb30d55239cc16271cfa0ba	whose carriers have @PHENOTYPICFEATURE$ that led to the diagnosis of @DISEASE$ (ACD; MIM 114290).	false
+32348a5eb238ff7463c0c48462efa3eeb88442d8	Complex @PHENOTYPICFEATURE$ (@DISEASE$; including tremor, dystonias, choreoatheosis, and myoclonus) following infarcts in the posterior and posterolateral thalamic nuclei have been reported.	false
+16230ef0ab12cca6654a94375497cf552375c46e	Mutations in the transcription factor SOX9 give rise to @DISEASE$, a syndrome characterized by @PHENOTYPICFEATURE$ and XY sex reversal.	false
+cbe24e49995fbc5fa0317175e3f957dfd9e74b65	@DISEASE$ (CD) is an autosomal, dominantly inherited, @PHENOTYPICFEATURE$ belonging to the subgroup of bent bone dysplasias.	false
+489c97b917ad7f573c16a1e82dddef0820d07b8c	A subsequent skeletal survey revealed other @PHENOTYPICFEATURE$, which led to the diagnosis of @DISEASE$.	false
+70228df6dcb64b166785521747d5f5dc4f9c8a29	@DISEASE$ (CD) is a semilethal osteochondrodysplasia, characterized by @PHENOTYPICFEATURE$ that include bending of the long bones, and by XY sex reversal.	false
+90ef3461437910f607002c2d816f800216e4774b	Cerebral CT scan abnormalities have been seen to be afflicted with some cases of classic occidental type congenital muscular dystrophy (@DISEASE$) with normal or borderline intelligence without @PHENOTYPICFEATURE$.	false
+4160591db53fab808184c5793fd3aabc02a6cacc	We report on a baby girl with congenital muscular dystrophy (@DISEASE$) with @PHENOTYPICFEATURE$ ("CMD Plus" condition), who also had Hirschsprung disease.	false
+19c600fc5c0b0667c3ff66aae43139755c5759b9	RSS is classified as a @DISEASE$, and is characterized by early rigidity of the spine, @PHENOTYPICFEATURE$, and restrictive respiratory dysfunction.	false
+2bb9525bc4b298575eb92d26b7fed223cdd29a05	Thirty-nine eyes had mild @DISEASE$ eyes had advanced @PHENOTYPICFEATURE$, and there were 40 control eyes with no cataracts.	false
+c4d50ca1830961cca1d01c94e917879abcdcd1c4	Thirty-nine eyes had mild @DISEASE$ eyes had advanced cataracts, and there were 40 control eyes with no @PHENOTYPICFEATURE$.	false
+fbd14aa7e3d67edfff400b5f192c3bf839a7d156	Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary syndrome characterized by @DISEASE$ (MTC), pheochromocytoma and @PHENOTYPICFEATURE$.	false
+4c2bc42e23fb9ebb4f447bc9ff72da3ebc101a4a	Notably, pheochromocytoma and @PHENOTYPICFEATURE$ emerged at any time after the diagnosis of @DISEASE$.	false
+cf77295ae0d4b4e570dd5eeae8a3e06c67420555	In less common MEN-2B, @DISEASE$ and pheochromocytoma occur together with complex nervous and @PHENOTYPICFEATURE$.	false
+6ea6615de6ff07e6bfa9a71bb246d78a0c0874d8	A family with MEN IIa (@DISEASE$ (MCT), pheochromocytoma and @PHENOTYPICFEATURE$) was identified.	false
+478fa22b14a8938839c17cf12e097b9b2b8a7102	Incidental @DISEASE$ in sporadic @PHENOTYPICFEATURE$.	false
+ea9a03fd7f530aeb9af7d70855be684de5477d8d	MEN 2A is characterized by @DISEASE$, pheochromocytoma and @PHENOTYPICFEATURE$; MEN 2B by medullary thyroid carcinoma, pheochromocytoma and characteristic stigmata.	false
+b38533064c57f3d093834ae7418dd580a077001f	MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and @PHENOTYPICFEATURE$; MEN 2B by @DISEASE$, pheochromocytoma and characteristic stigmata.	false
+f797ceb234ee6b8561a58e7534558601493e698d	Four cases were classified into this group (3 cases of intraductal @PHENOTYPICFEATURE$ and 1 case of adenomyoepithelioma). Type B: lymphocytes and large isolated cells such as @DISEASE$.	false
+2a5b66a20d7848081ac9b91d213a62d08d5cdb2e	MEN-2 is the familial syndrome of @DISEASE$, associated with pheochromocytoma and @PHENOTYPICFEATURE$.	false
+2098fdee2b34a5e4a818c1b2cf83d8923be21d44	The overall reported prevalence of @DISEASE$, CLA, pheochromocytoma and @PHENOTYPICFEATURE$ was 94, 51, 30 and 16?%, respectively.	false
+35449d12ce978b3b3c140f3314bfaa6b17b6344d	These include familial @PHENOTYPICFEATURE$, multiple endocrine adenomatosis, pseudohypoparathyroidism and kindreds with multiple cases of @DISEASE$ of the throid.	false
+a339aaa9e05e9406ce955d663a6992f459e38e13	The G syndrome of dysphagia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8c4adeff36229345ec9b2eb61f2056356c644ea1	[@PHENOTYPICFEATURE$-@DISEASE$ (BBB) syndrome.	false
+51677a5d51b2992bf5a52cb54b313e1bce14f4a3	The @PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+ab793842221533914859e5218be9bbf166b05df3	@PHENOTYPICFEATURE$-@DISEASE$ syndrome with a laryngotracheoesophageal cleft.	false
+7db8d4ef6260c536796c8f81ed79c9977d6a722f	The Opitz @PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+48b7b76302b537a156c49b2efce1cca381e3aec8	The signals from the literature (@PHENOTYPICFEATURE$, oral clefts, neural tube defects and @DISEASE$) were not confirmed.	false
+ddb5146c3e07d10ee72dcc6f1021bacb62e2da2c	The signals from the literature (congenital heart defects, @PHENOTYPICFEATURE$, neural tube defects and @DISEASE$) were not confirmed.	false
+51677a5d51b2992bf5a52cb54b313e1bce14f4a3	The @PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+b6720528363110e3d9efc60c2f22ab9d62486b7f	@PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+f5e35c570045b88ff998f3bd2ed04f30d80ffc00	We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, @PHENOTYPICFEATURE$, cryptorchidism with @DISEASE$, hemivertebrae, and complex heart defects.	false
+a866a8ed1b9b2d3d9485f7ceaf75f0580e3af196	We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, @PHENOTYPICFEATURE$, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with @DISEASE$, hemivertebrae, and complex heart defects.	false
+01644f76d14eeb89de8880bca4db2d98e4d8ebbe	We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with @DISEASE$, hemivertebrae, and complex @PHENOTYPICFEATURE$.	false
+5e83268aeebc5bfec3f75bded7e427714d95f532	We present a male infant with multiple congenital anomalies including severe @PHENOTYPICFEATURE$, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with @DISEASE$, hemivertebrae, and complex heart defects.	false
+8e5cbeae95955b3c11758654f00f4328a097b90a	[@PHENOTYPICFEATURE$-@DISEASE$ syndrome].	false
+5c278be38a4cb7a905d752bf8f3a1c10f96654ee	Although conjunctivitis (8%) was the most frequent complication, post-paralytic motor features in the form of synkinesia (eight cases), hemispasmas or @PHENOTYPICFEATURE$, and autonomic disturbances such as the crocodile-tear phenomenon (three cases) and auriculo-@DISEASE$ (one case) were rare.	false
+0a5551493f080c2d2a5c7b75c9145c4178f5ba39	We propose to call this syndrome: @DISEASE$ (Calcinosis cutis, Osteoma cutis, Poikiloderma and @PHENOTYPICFEATURE$).	false
+3226d205f2d907db4e40eda8c98703fb72e83f05	Calcinosis cutis, osteoma cutis, poikiloderma and @PHENOTYPICFEATURE$ (@DISEASE$)--a new entity?	false
+0c020d43e9cc7315eaa02613205de21ff613f81d	Haplotype insufficiency causes @DISEASE$ (CCD), a syndrome featuring supernumerary tooth buds, delayed tooth eruption, patent fontanels, Wormian bones, short stature, dysplasia of the clavicles, @PHENOTYPICFEATURE$ and hypoplasia of the distal phalanges.	false
+0d2e9ef04094002f2483c7a9ad9c838ff46c3c02	The Yunis-Var?n syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (@DISEASE$), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, @PHENOTYPICFEATURE$ and poor outcome.	false
+f85207afebe7a099a88f647f86a7dcd569fffd9d	Yunis-Varon syndrome is a rare, autosomal recessive syndrome characterized by @PHENOTYPICFEATURE$, defective growth of the cranial bones along with complete or partial absence of the clavicles (@DISEASE$), characteristic facial features, and/or abnormalities of the fingers and/or toes.	false
+3e758b416f80c26f3531550e1191d9855aaab750	Making the movement @PHENOTYPICFEATURE$ visible caused a relative decrease in the popularity of the @DISEASE$ patients as opposed to an increase in the popularity of the control patients.	false
+8f64533b1d75f771bffc5ae1c38fc023e32727f3	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and skeletal anomalies in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and @PHENOTYPICFEATURE$ in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+a956ce0589b1f122afd326fb864eb39826327833	In contrast, complex molecule diseases commonly give prenatal symptoms that may permit the diagnosis even in the absence of index cases: hydrops fetalis and @PHENOTYPICFEATURE$ in lysosomal storage diseases, hydrops fetalis in congenital disorders of glycosylation (CDG) and @DISEASE$, brain malformations in O-glycosylation defects, brain malformations, kidney cysts and skeletal anomalies in peroxysomal diseases (Zellweger syndrome), syndactyly, genitalia malformations, and IUGR in Smith-Lemli-Opitz (SLO) syndrome.	false
+4959fd6f82078267c9e4feeb29a718fac22f1d02	Congenital unilateral @DISEASE$-Sylvian syndrome in a patient with recurrent seizures, left hemiparesis, and @PHENOTYPICFEATURE$.	false
+8d2c34c4f1ef4a10700573f997921bd171172368	Recurrent attacks of occlusive retinal vasculitis lead to vision-threatening complications such as @DISEASE$, retinal neovascularization, @PHENOTYPICFEATURE$ and retinal atrophy.	false
+c07ebf6bf05063b628929b2b947799f03ef57e5b	The resultant rate of @PHENOTYPICFEATURE$ was 15.9%, and that of low vision 23.1%, due to @DISEASE$ (44.4%) and vitreous hemorrhage (15.4%).	false
+f14b96a317645caffa4b71c13428ac27c1886457	@DISEASE$ (CME) is a leading cause of @PHENOTYPICFEATURE$.	false
+5ddc3ad862d7be47bba6abc20063eaf1bffa3b08	The causes of poor vision in these patients were cataract, @DISEASE$, epiretinal membrane, and @PHENOTYPICFEATURE$.	false
+fa47a067f2945f449517d461d13c580ceda7e70d	Visual loss in birdshot retinochoroidopathy has been reported to be produced by @DISEASE$, @PHENOTYPICFEATURE$, epiretinal macular membranes and subretinal neovascularization.	false
+397e1ba92d48d57a8da0733e48b01251e974e59c	The common causes for poor visual prognosis were @PHENOTYPICFEATURE$, atrophy of the retina, and @DISEASE$.	false
+1de0659b848db9c331bad30dc29dc785c60c0d75	@DISEASE$, corneal degeneration, @PHENOTYPICFEATURE$ were observed more often in patients with SpA, but differences between the groups were statistically insignificant.	false
+fe6d79412f75f06dc48990fd9551b8bac4966534	Post-removal complications were: poor wound healing, high astigmatism, amblyopia, @DISEASE$, retinal vascular occlusion, @PHENOTYPICFEATURE$ and phthisis bulbi.	false
+c6cfb27274654b6b6ad7b64500c45d7d97e6f070	The common complications observed included complicated cataract (57% of eyes), followed by @DISEASE$ (55.1%), occlusive vasculitis (44.8%), and @PHENOTYPICFEATURE$ (26.5%).	false
+c5845825909dc1a033a7822d39c4d3b61e086e58	The factors that limited visual recovery to this level were primarily macular and optic nerve pathology (@DISEASE$ [CME], macular epiretinal membrane, and @PHENOTYPICFEATURE$).	false
+b3051765795d86eb2cf197129eb049ee75e1af10	However, with its preferential targeting of late INa (INaL), patients with disease resulting from increased INaL from inherited defects (eg, @DISEASE$ or disease-induced electric remodeling (eg, ischemic @PHENOTYPICFEATURE$) might be exactly the ones to benefit most from the presumed antiarrhythmic properties of ranolazine.	false
+c13a267ec435a04cce9bef557a81e1b7a5698778	A pathological increase in the late component of the cardiac Na(+) current, I(NaL), has been linked to disease manifestation in inherited and acquired cardiac diseases including the long QT variant 3 (@DISEASE$) syndrome and @PHENOTYPICFEATURE$.	false
+782f18b1f3ccf8229c9ffc3e2ecb6696131c477b	We developed a computational model to predict if therapeutic effects of pharmacological targeting of INaL by ranolazine prevailed over the off-target block of IKr in the setting of inherited @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ddb9b260af306c4a557840e0aa01d833c6530a0	The literature survey did provide criteria for classic @DISEASE$, which include hypotonia with or without deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, cryptorchidism or labial hypoplasia, hepatomegaly or elevated liver enzymes, peripheral pigmentation of the retina, renal cortical cysts, and characteristic neuropathology involving decreased myelinization, @PHENOTYPICFEATURE$, and sudanophilic macrophages.	false
+07d356ea10dbc85e1c29f19f68fe58130e5019ee	Bile acid were extracted from 5 ml of urine obtained from five healthy children or from twenty patients with various liver diseases including patients with unknown chronic liver diseases, @DISEASE$, peroxisomal bifunctional protein deficiency disease, tyrosinema type 1, @PHENOTYPICFEATURE$, and patients with progressive familial intrahepatic cholestasis (PFIC) of undetermined type.	false
+b2c41d46a4e503afee2e44a5f5032ef0a2b1d964	The most frequent findings were in oxidative phosphorylation disorders (21 cUS and 12 MR imaging): ventricular dilation (11 cUS and 6 MR imaging), germinolytic cysts (GLCs; 7 cUS and 5 MR imaging), and abnormal white matter (7 cUS and 6 MR imaging); in @DISEASE$ (13 cUS and 9 MR imaging): GLCs (10 cUS and 6 MR imaging), @PHENOTYPICFEATURE$ (10 cUS and 5 MR imaging), abnormal cortical folding (8 cUS and 7 MR imaging), and lenticulostriate vasculopathy (8 cUS); in amino acid metabolism and urea cycle disorders (14 cUS and 11 MR imaging): abnormal cortical folding (9 cUS and 4 MR imaging), abnormal white matter (8 cUS and 8 MR imaging), and hypoplasia of the corpus callosum (7 cUS and 6 MR imaging); in organic acid disorders (4 cUS and 2 MR imaging): periventricular white matter echogenicity (2 cUS and 1 MR imaging); and in other disorders (3 cUS and 1 MR imaging): ventricular dilation (2 cUS and 1 MR imaging).	false
+8710bdb7cf456acb417073e8efb44e67424bc589	@PHENOTYPICFEATURE$ with multisystem involvement - @DISEASE$.	false
+99ca15a5ab386e86f658992c84d82e728257afa3	@DISEASE$ (EvC) is a ciliopathy with cardiac anomalies, @PHENOTYPICFEATURE$, polydactyly, dystrophic nails and oral defects.	false
+e9bb6a0a6c8c0b34086076092763d3904407ab50	Short limbed dwarfism, genital hypoplasia, sparse hair, and @PHENOTYPICFEATURE$: a variant of @DISEASE$?	false
+87239ba9e7bab803f5896be7a6fb1e5fea185569	The Ellis-van Creveld (EVC) syndrome is a @DISEASE$ and is characterized by the cardinal features of @PHENOTYPICFEATURE$, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities.	false
+3fd7920355a0a2712647415da88460d4d2d78434	Three offspring with @PHENOTYPICFEATURE$, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for @DISEASE$.	false
+2718af571bae1e28368a6ea52ab8231b5281f316	The major diagnostic features of @DISEASE$ (EvC) includes @PHENOTYPICFEATURE$, polydactyly, ectodermal anomalies, and structural heart defects.	false
+c0ccc61a11e05b8d005077385c3dbb398bbdd0ba	BACKGROUND @DISEASE$ is an autosomal recessive chondro-ectodermal dysplasia characterized by @PHENOTYPICFEATURE$, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth.	false
+dcee35d0722b34e0aefd760bad2f89281c8a991f	The human @DISEASE$ is associated with mild @PHENOTYPICFEATURE$, developmental delay and variable congenital malformations.	false
+aaeb50e7074a0e227d345eca37707b28622d657e	The @DISEASE$ is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight @PHENOTYPICFEATURE$.	false
+c6be303f87732dd8d90f50be59f4e3b6e473458b	They include @DISEASE$, midface hypoplasia with proptosis, ear anomalies, choanal stenosis, long tapered fingers with a bulbous tip, elbow joint contracture due to radio-ulnar synostosis and @PHENOTYPICFEATURE$.	false
+2053b6c90df9a023c4247b63f675a67856288c0b	They include @DISEASE$, midface hypoplasia with proptosis, @PHENOTYPICFEATURE$, choanal stenosis, long tapered fingers with a bulbous tip, elbow joint contracture due to radio-ulnar synostosis and talipes equinovarus.	false
+47430f1ca7e3c6a64b71fe5c7555039a390f2579	All had @DISEASE$ (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had eyelid ptosis, low frontal hairline, and external @PHENOTYPICFEATURE$.	false
+7976fadbb048fc5ce5598c6d8c8eb98d07f3c51a	We report on a female newborn with holoprosencephaly, @DISEASE$, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, @PHENOTYPICFEATURE$ and coarctation of aorta.	false
+954059a4aa1579b4d968f546aa3eee57c62b16a8	We report on a female newborn with holoprosencephaly, @DISEASE$, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral @PHENOTYPICFEATURE$, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta.	false
+4a3a0ce45bf84700347fa9cc266d230f4d06429b	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal @DISEASE$, frontonasal dysplasia, and @PHENOTYPICFEATURE$.	false
+5174078f58aa4ea9e9e82190486a5fdeaaff2be3	Michels syndrome is characterized by cleft lip and palate, @PHENOTYPICFEATURE$, blepharophimosis, epicanthus inversus, and @DISEASE$.	false
+c21de93d1572d8313aa3a1488f2db95d881d2939	@DISEASE$, telecanthus, scalp hair abnormalities, and @PHENOTYPICFEATURE$ in two sibs.	false
+a10d5608e77ff9a88457e61f2108ba145839a253	@DISEASE$ is a condition defined by premature closure of cranial vault sutures, which is associated with @PHENOTYPICFEATURE$ and skull.	false
+9e5de1f53e77389a61515a243f3169dc4fae2e98	She was managed conservatively with lacrimal sac massage and provided with refractive correction while she simultaneously underwent multiple surgeries for correction of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d61a3b9d6a9da92130c85bbe05643970c9db257d	The patient was a 9-year-old boy with a heterozygous TGFBR2 mutation, manifesting camptodactyly, @PHENOTYPICFEATURE$, and lamboid @DISEASE$.	false
+295564f636b9658e1eb65748d8740f1d52ca8043	Our results suggest that the presence and severity of @PHENOTYPICFEATURE$ is related to the type of @DISEASE$.	false
+8cde4825e022bad147f221a4297e96be30fbccfc	After ovulation induction treatment, the endometrial thickness, amount of mature follicle, ovulation rate, clinical pregnancy rate, occurrence rate of @DISEASE$ (OHSS) and the number of early @PHENOTYPICFEATURE$ were compared between the two groups during ovulation.	false
+83592739a66f7077c0ca2d586b45d28fc6211e75	Albumin infusion is used during pregnancy for volume loading in preeclampsia and/or intra-uterine @PHENOTYPICFEATURE$, before regional anaesthesia for Caesarean section, compensation of blood loss during haemorrhages of parturition, as well as prevention and treatment of @DISEASE$ after in vitro fertilization.	false
+0e545b7390b41f60643ba5ba054d1aa9dd61527b	There was no statistical difference in patient's age, basal follicular stimulating hormone (FSH), clinical pregnancy rate, implantation rate, early @PHENOTYPICFEATURE$ rate, ovarian hyperstimulation syndrome (@DISEASE$) rate, delivery rate between two groups (P > 0.05).	false
+dd174262f0da955833bb77a12322693179d68130	There was no statistical difference in patient's age, basal follicular stimulating hormone (FSH), clinical pregnancy rate, implantation rate, early @PHENOTYPICFEATURE$ rate, @DISEASE$ (OHSS) rate, delivery rate between two groups (P > 0.05).	false
+63fc04411a2a645a60eb194bec84f1c665d4d4bd	To describe an alternative technique for transvaginal drainage of ascites in a case of severe @DISEASE$ (OHSS), generalized edema, and @PHENOTYPICFEATURE$.	false
+b34ef68341059606e570e3dd8ef1ed0a054dc1da	We have reviews of several maternal as well as fetal complications: the @DISEASE$, extra-uterine pregnancy, hypertension, anaemia, spontaneous abortion, prematurity, intra-uterine @PHENOTYPICFEATURE$ and malformations.	false
+685fc1173694627290969679904428ab6a6300ba	Insulin (INS) resistance associated with hyperestrogenemias occurs in gestational diabetes mellitus, polycystic ovary syndrome, @DISEASE$, estrogen therapies, metabolic syndrome, and @PHENOTYPICFEATURE$.	false
+2b220870f9708a73740842dd26a98d73decd1c0b	Unusual ultrasonographic finding of @DISEASE$ in a preterm newborn with severe intra-uterine @PHENOTYPICFEATURE$.	false
+9d9902fd7821a97e98eb426d8f34650e022e9384	Moreover, disturbance of the mechanisms of physiological angiogenesis has a role in pathogenesis of some diseases in the form of overproliferation of blood vessels such as cancers, psoriasis, arthritis, retinopathies, @PHENOTYPICFEATURE$, asthma, and atherosclerosis or impaired angiogenesis participates in diseases such as heart and brain ischemia, neurodegeneration, hypertension, osteoporosis, respiratory distress, preeclampsia, endometriosis, postpartum cardiomyopathy, and @DISEASE$.	false
+37814b2add7d023b88f0efc96fab5624695f9e8b	To report the outcome of chronic bilateral @PHENOTYPICFEATURE$ and other ocular manifestations in @DISEASE$ (APECED).	false
+5ab7b6879061dd253e76c2584540636f2b26863f	Optic atrophy and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+87a394d4a1c4790fa3fb65d0ca151e7bf7092fe4	We have described a case of @DISEASE$ in which decompression of bilateral optic canals for treatment of threatened damage of the optic nerve resulted in bilateral @PHENOTYPICFEATURE$.	false
+94d37a54a3f7bd4962411d90098077229316a78e	Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-@PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+94d37a54a3f7bd4962411d90098077229316a78e	Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-@PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+e78220ac32952c42860c134336b7851f9cb54336	Keratoderma-hypotrichosis-@DISEASE$ syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin @PHENOTYPICFEATURE$, congenital alopecia and leukonychia totalis.	false
+b47cc70edccdc40d6e26fd12ddbee3aa162c6ebc	Salmonella can cause a number of different disease syndromes including gastroenteritis, bacteremia, and @DISEASE$, with the most common being gastroenteritis, which is often characterized by abdominal pain, nausea, @PHENOTYPICFEATURE$, diarrhea, and headache.	false
+38fb9f0d54ba002fbf2a3c282d45c31ca3efde72	The @DISEASE$ (G6Pase) underlies life-threatening hypoglycemia and @PHENOTYPICFEATURE$ in glycogen storage disease type Ia (GSD-Ia).	false
+eb91112eeb64dc062ff331b873259e3055cfc91f	@DISEASE$ (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, puberty delay and @PHENOTYPICFEATURE$, which can be indicated by height, weight, blood glucose and blood lipids.	false
+34122a9f406c1260a2b4837dd3368cbbbd668d06	@DISEASE$ (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by @PHENOTYPICFEATURE$, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia.	false
+67ba302e63927343950e8aefcf7531faa3712691	Necropsy revealed @DISEASE$. Hypoglycaemia and metabolic acidosis had probably led to hypokalaemia which is considered as the cause of @PHENOTYPICFEATURE$.	false
+7907873e9dc5a1ae01c1f73f01b7eedcd933821b	Glucose-6-phosphatase deficiency (@DISEASE$), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, @PHENOTYPICFEATURE$ and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	false
+901d4804490424ee1fb69252326e8d97b7e134f4	Glucose-6-phosphatase deficiency (G6P deficiency), or @DISEASE$ (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, @PHENOTYPICFEATURE$ and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	false
+34e6a8fddf425d8fa255c005e68445c1defbaedc	Patients with @DISEASE$b have severe hypoglycemia with several clinical manifestations of hepatomegaly, @PHENOTYPICFEATURE$, a doll-like face, and neutropenia.	false
+8b9f2f247d58bec5dffb15bb3dd8f79c39f78b3e	Continuous subcutaneous glucose monitoring may be of value in every adult patient with @DISEASE$ to evaluate the actual prevalence of eventual hypoglycaemic and hyperglycaemic episodes.Good dietary management minimizes the metabolic abnormalities of the disease and decreases the risk of long-term complications.Treatment of @PHENOTYPICFEATURE$ in patients with GSD reduces the risk of earlier atherosclerosis and cardiovascular disease.	false
+81a086beed06606f4bf8c19485c154a484a7b89e	The @DISEASE$ (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, @PHENOTYPICFEATURE$, renal failure, hepatic adenomas, and hepatocellular carcinoma.	false
+51136ec29d4a3e9844673ac2a517d1597205cfd2	The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, @DISEASE$; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia, @PHENOTYPICFEATURE$, renal failure, hepatic adenomas, and hepatocellular carcinoma.	false
+ed656f9efdba9dae8162dea571c410a6e7f98645	Genetic @DISEASE$ (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, also known as von Gierke disease; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia and @PHENOTYPICFEATURE$.	false
+37e8395627ef2f8c5a17f61694860242b129aa6b	Genetic deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, also known as @DISEASE$; MIM 232200), an autosomal recessive disorder of metabolism associated with life-threatening hypoglycemia and @PHENOTYPICFEATURE$.	false
+2f52f9d2b24e67fc7886b1ae84082e73f12f0bcb	@DISEASE$ in men is frequently related to alcohol abuse, hypogonadism, @PHENOTYPICFEATURE$, or the use of glucocorticoids.	false
+714d74c63dab29c03fa80c33ef49ec469d339e4e	The pathobiochemical effects of chronic latent acidosis can be @DISEASE$, diabetes mellitus, @PHENOTYPICFEATURE$, gout or restricted renal function.	false
+a3ce93ae7c77dff7e5cfc282c4763ae8dae59c5b	[Diabetic osteoses (@DISEASE$ and @PHENOTYPICFEATURE$)].	false
+23cc054bf1e3d0050fc3b5041bcb22f922ff3ced	A case of @PHENOTYPICFEATURE$ with @DISEASE$ and other abnormalities.	false
+cf135b9c3cbc84566a7262300bb24bed18e053c9	Re: effects of aminobisphosphonates and thiazides in patients with osteopenia/@DISEASE$, @PHENOTYPICFEATURE$, and recurring renal calcium lithiasis.	false
+a4b49e1e520731318f0961312ca012134941f431	In these patients, family history of @DISEASE$ and associated @PHENOTYPICFEATURE$ are frequent.	false
+aca7dbfaae6444da38e398630f1cf2be01b05063	Effects of aminobisphosphonates and thiazides in patients with osteopenia/@DISEASE$, @PHENOTYPICFEATURE$, and recurring renal calcium lithiasis.	false
+5cd0717483bac46b1b2231aed5ecfeb9c62005d0	Major risk factors for @DISEASE$ are hypogonadism, glucocorticoid therapy, @PHENOTYPICFEATURE$, gastrointestinal disease, and high alcohol consumption.	false
+508eaf0209000a6f151e5cd914e8615c5512203f	Older women with greater degrees of kyphosis are likely to have other manifestations of spinal @DISEASE$ such as height loss and thoracic fractures and to suffer chronic upper and middle @PHENOTYPICFEATURE$.	false
+fbd9a89cf75f68057fed771057f70849480e9ff7	Other causes of @DISEASE$ (hyperthyroidism, Cushing's disease, hemochromatosis, gastrectomy, inflammatory rheumatic disease, tubulopathy, @PHENOTYPICFEATURE$ and iatrogenic causes) should also be taken into consideration.	false
+b5fe17c40c84403edc289fdef8f3d8c0e265823f	It may be inherited as an isolated trait or as a feature of a congenital syndrome such as @DISEASE$ or oculocutaneous @PHENOTYPICFEATURE$.	false
+b64e4c2fc9e48970d2cbe61f0fc4350fc5028a2f	The movement disorder in @DISEASE$, particularly the characteristic @PHENOTYPICFEATURE$, should facilitate the identification of patients with this rare but possibly underrecognized disorder.	false
+dc5f56e1c13eb1a67e5d74a1b1d4264db8342488	We report dominant uncrossed pyramidal tract in @DISEASE$ syndrome, based on the postmortem neuropathologic study of eight consecutive autopsied fetuses and infants with trisomy 18 ranging in age from 16 to 39 weeks of gestation, including six males and two females, along with autopsy cases of a stillborn triploid infant with 69XXX and two stillborn infants without chromosomal or @PHENOTYPICFEATURE$.	false
+bc7954e9d148005c38b157894baae48719270d09	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$, including hypotonia in infancy, mental retardation, central apnea, and epilepsy.	false
+042105f5189e4f794ac081be2d314d916469cddb	Four of the patients had MEM with lactic acidosis and strokelike episodes (MELAS), 2 had Kearns-Sayre syndrome (KSS), 1 had @PHENOTYPICFEATURE$ epilepsy with ragged red fibers (MERRF) and 3 had @DISEASE$ (CCOD).	false
+16a9ddbf63a265825a74874fe0d428822d120295	Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and @DISEASE$; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and @PHENOTYPICFEATURE$; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.	false
+73dff5e89aa2818983d6b1bcfd860171fb98d137	Viral as well as nonviral delivery methods have been effectively tested in vivo for silencing of molecular targets and have resulted in significant efficacy in animal models of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), anxiety, depression, encephalitis, @DISEASE$, Huntington's disease, neuropathic pain, and spinocerebellar @PHENOTYPICFEATURE$.	false
+a7a2038e29ed730444a8771d91df224062b7c476	Bilateral @PHENOTYPICFEATURE$ of the tarsus coincident with @DISEASE$.	false
+426113e4b1221fcd32d97852ea3d4d7443966584	A cerebral @DISEASE$ was diagnosed based on histological and immunohistochemical findings in one of the animals following initial presentation with bilateral mydriasis, absent pupillary reflex, head tilt and @PHENOTYPICFEATURE$.	false
+d831782c4b531d5cf4d4fe98d79f726601ebe827	The estimated partition coefficient was diminished more with cerebral infarction, intracerebral hematoma, and vasogenic edema than with hypoxic @PHENOTYPICFEATURE$ or @DISEASE$.	false
+316586ab29ed5a6eb60b1953fb034bce883d4a72	Neurosurgery Concepts: Key perspectives on quality of life in children with @PHENOTYPICFEATURE$, cilengitide for the treatment of newly diagnosed @DISEASE$, surgery and stereotactic radiosurgery in the management of intracranial metastasis, Gamma Knife radiosurgery in patients with Neurofibromatosis Type 2, patient misconceptions on the diagnosis and treatment of lumbar spondylosis.	false
+ffd680554600dc94e54d7ddd1fbb9982c4b3be4e	Gene expression analysis of WHO grade II glioma indicated an intermediate stage of @PHENOTYPICFEATURE$, less severe than that of @DISEASE$ vessels but distinct from normal vessels.	false
+41b40c8d986bb3c41cbb4214cd1db689531509b6	Nuclear orphan receptor TLX (NR2E1) functions primarily as a transcriptional repressor and its pivotal role in brain development, @DISEASE$, @PHENOTYPICFEATURE$ and retinopathologies make it an attractive drug target.	false
+d2c9e6739995fb3429c0badc5ffbd4281bb9b969	We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and @DISEASE$, together with non-neoplastic manifestations including @PHENOTYPICFEATURE$, arachnoid cyst, developmental venous anomaly, and hydrocephalus.	false
+70a95c62325d6766cb787bed4449f5d49fc0c56e	Both non-viral and viral delivery strategies are being undertaken for in vivo silencing of molecular targets by RNA interference, which has resulted in robust efficacy in animal models of Alzheimer's disease, ALS, Huntington's disease, spinocerebellar @PHENOTYPICFEATURE$, anxiety, depression, neuropathic pain, encephalitis and @DISEASE$.	false
+b08947bdd7b75e0ba265adf40d59fa60f0ac6c1d	The Pax6, a transcriptional regulator and multifunctional protein, has been found critical for neurogenesis, neuro-degeneration, @PHENOTYPICFEATURE$, neuroendocrine tumors, @DISEASE$ and astrocytomas.	false
+6bf4f9998b41c4bf364f1c50ac1f62e95c959574	Bilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+5c32ee9c0a28accfb8fb5f4a8c1bbc464bb22cbe	To document a case of bilateral @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+5e5b3b9d60691da9fa2127577ba55742ca5237bb	In a patient with @DISEASE$, confirmed with genetic molecular diagnosis, bilateral @PHENOTYPICFEATURE$ was present.	false
+72a5e22cf60faf634d001e6cb578b571588b72e2	In arrhythmogenic right ventricular cardiomyopathy and @DISEASE$, fibrofatty infiltration of the myocardium is associated with @PHENOTYPICFEATURE$.	false
+0a6343a936af0cac0f04609f85bace80ccb42b28	@DISEASE$ (DM) is an inherited multisystem disorder associated with myotonia, progressive skeletal muscle weakness and atrophy, involvement of peripheral and central nervous system and sudden death likely due to atrioventricular block and/or @PHENOTYPICFEATURE$.	false
+5b47ae2acdfbb9ff5c448eafe600caa5486c1f1e	Serum IgE concentration of patients with acquired hypogammaglobulinemia, thymoma and @PHENOTYPICFEATURE$, @DISEASE$, intestinal lymphangiectasia and Wiskott-Aldrich syndrome.	false
+e662f2a6658c50ec4d7ee35303adf51832a1f838	Our prospective study tracked a cohort of 64 type 1 @DISEASE$ patients that demonstrated a high burden of atrial and @PHENOTYPICFEATURE$ and conduction delays.	false
+ed0f5c21953629365adaf04e8d4360c55d9a20f3	This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and @DISEASE$; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, @PHENOTYPICFEATURE$, and epilepsy.	false
+61c986308661fed9f509a81d0f8e38e5b18c9969	On the other hand, in @DISEASE$ (Steinert's disease), @PHENOTYPICFEATURE$ or conduction defects may appear at an early stage of the disease with serious consequences justifying appropriate follow-up and invasive preventive measures.	false
+9238dd549f42998d388f9b9288b7acd569dd56fd	@DISEASE$ (SIOD) is a rare hereditary disease characterized by @PHENOTYPICFEATURE$, immune deficiency and progressive renal disease.	false
+5bf091c5e2232fa30d4968583670b1a0a9920afc	@DISEASE$ (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, focal segmental glomerulosclerosis, renal failure and immunodeficiency.	false
+b3736fd14871a5f1479092867aad00af15e515b7	@DISEASE$ (SIOD) is an autosomal recessive, fatal childhood disorder associated with @PHENOTYPICFEATURE$, renal dysfunction, and T-cell immunodeficiency.	false
+f9fea671b233e2f273ff17051f13d7863ac87802	Mutations in SMARCAL1, which encodes a DNA annealing helicase with roles in DNA replication fork restart, DNA repair, and gene expression modulation, cause @DISEASE$ (SIOD), an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, renal disease, T-cell immunodeficiency, and arteriosclerosis.	false
+bf5b3a4bc8cf5db674bc49826d9697379a092f51	Impairment of HISS release results in the absence of meal-induced insulin sensitization (AMIS), which causes postprandial hyperglycemia and @PHENOTYPICFEATURE$, and chronically leads to the progression to a cluster of metabolic, vascular, and cardiac dysfunctions, which we refer to as components of the @DISEASE$.	false
+1ac9094f0297311c3cd1a29461691a5f5ad591b1	The sodium channel beta1 subunit gene (SCN1B) maps to this candidate region and has been shown to be involved in one Australian pedigree with @DISEASE$ and @PHENOTYPICFEATURE$ "plus" (GEFS +).	false
+711886cde671c85f4adb52c01184c083cc808c2c	Several studies have examined a possible link between the exonic GABRG2 rs211037 locus and susceptibility to @PHENOTYPICFEATURE$ (FS) and idiopathic @DISEASE$ (IGE), however results have been inconclusive.	false
+8edbd3511e7c8d4939b258ed6777a05ea8b9600a	@PHENOTYPICFEATURE$ that persist after the age of 6 years are usually part of the syndrome of @DISEASE$ febrile seizures plus.	false
+485e9376161e8d194f8aa9c7e1c4537e85ae68a4	Febrile seizures that persist after the age of 6 years are usually part of the syndrome of @DISEASE$ @PHENOTYPICFEATURE$ plus.	false
+93601148ec95fef67cb7195cad896b8dab4af11b	The purpose of the study was to explore the pathogenic mechanisms underlying @DISEASE$ and @PHENOTYPICFEATURE$ plus (GEFS+) in a family with a novel ?2 subunit gene (GABRG2) frameshift mutation.	false
+5a4f24bc823010d652bfc767fe8c5b5a477892b4	To map functional MRI (fMRI) connectivity within and between the somatosensory cortex, putamen, and ventral thalamus in individuals from a family with a GABAergic deficit segregating with @PHENOTYPICFEATURE$ and genetic @DISEASE$.	false
+640c16465f4f5db84175534a18a8ac3328390f9c	A neuronal sodium channelopathy causes the @DISEASE$ @PHENOTYPICFEATURE$ plus syndrome.	false
+75f6ab2d4f9a71aba60f1d1b86c20e61f8aa2d95	Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, @DISEASE$ @PHENOTYPICFEATURE$ plus, and an early-onset infantile epileptic encephalopathy.	false
+b71bc76e028c84088e30f5d702f19a20373cb922	Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with @PHENOTYPICFEATURE$ plus (GEFS+) and idiopathic @DISEASE$ (IGE).	false
+9779472e5e8e47a81e18e2ec3501b0deb3cbca13	Common questions examined were susceptibility to idiopathic @DISEASE$, focal epilepsy, or @PHENOTYPICFEATURE$, and pharmacogenomic approaches to drug-resistant epilepsy.	false
+4f714576fcfd09f2c700a9ba55ff929d3658934f	SCN1A is the most clinically relevant epilepsy gene and is associated with @DISEASE$ and @PHENOTYPICFEATURE$ plus (GEFS+) and Dravet syndrome.	false
+cb61823f769f32ef15cf55c855ccdbe661812650	@DISEASE$ patient displays EBV associated fulminant infectious mononucleosis or hemophagocytic lymphohistocytosis, @PHENOTYPICFEATURE$ or malignant lymphoma.	false
+3b62bf58ece88cbf7d0faa8d416b7ac0dbb75280	We describe a boy with a molecularly confirmed @DISEASE$, clinically evident with congenital caf?-au-lait spots, bone fibrous dysplasia, hyperthyroidism, and renal phosphate @PHENOTYPICFEATURE$.	false
+50a8599e0d4b8275f1c773dd7d9a6224ec880e1b	Considering the results of @DISEASE$ and SAS, @PHENOTYPICFEATURE$ induces anxiety forwards vertigo, and thereby initiates a vicious cycle.	false
+2b417bd55531a353b24126138d50a84bf21b6050	We report our experience with duplex ultrasound in young patients with @PHENOTYPICFEATURE$ (RAS) or middle aortic syndrome (@DISEASE$) before and after surgery (1995 and 2009).	false
+7eb61d73c2e340c88b7f7fe4c541e9c9fb540dba	In all the cases, @DISEASE$ was simultaneous to the presentation of SLE in this article, we report a case of a patient with MAS who presented with @PHENOTYPICFEATURE$, rash, and high ferritin level up to 16911 ng/mL.	false
+8c794ee0db761b51ae6f11284a22107be90dbe7e	In all the cases, MAS was simultaneous to the presentation of SLE in this article, we report a case of a patient with @DISEASE$ who presented with @PHENOTYPICFEATURE$, rash, and high ferritin level up to 16911 ng/mL.	false
+a63e64afcea798662cc0ce12d20689bebb67e924	On the basis of the findings in these twins, together with those in previously reported familial cases of @DISEASE$, including two pairs of MZ twins, a 2-hit mutation hypothesis is proposed: a dominant @PHENOTYPICFEATURE$ may be inherited and leads to PFD in offspring as the primary defect of MAS; the second mutation may occur in somatic cell leading to mosaicism and thus resulting in MAS.	false
+50b5a733063f1acfdcdd9c19f12de69a2a8e30bf	On the basis of the findings in these twins, together with those in previously reported familial cases of MAS, including two pairs of MZ twins, a 2-hit mutation hypothesis is proposed: a dominant @PHENOTYPICFEATURE$ may be inherited and leads to PFD in offspring as the primary defect of @DISEASE$; the second mutation may occur in somatic cell leading to mosaicism and thus resulting in MAS.	false
+dc65233150dc23fb28837850c134e7b66176ff94	On the basis of the findings in these twins, together with those in previously reported familial cases of MAS, including two pairs of MZ twins, a 2-hit mutation hypothesis is proposed: a dominant @PHENOTYPICFEATURE$ may be inherited and leads to PFD in offspring as the primary defect of MAS; the second mutation may occur in somatic cell leading to mosaicism and thus resulting in @DISEASE$.	false
+3ecc6f460bd19ec4016864c06a0c623d94fd1fef	We present a 18 year-old woman with hypertension and @DISEASE$ coexisting with bilateral @PHENOTYPICFEATURE$ who underwent left renal artery angioplasty and than was followed-up for one year.	false
+7c5284fc325c5ebfe0d0d2949b62c15f9b02315e	@PHENOTYPICFEATURE$ and growth hormone deficiency: unexpected manifestations of @DISEASE$.	false
+2a3c4d3965fa3a952648f53c40fa1282a1d472b8	A 9-year-old boy presented with headaches and vomiting and was diagnosed with severe hypertension secondary to idiopathic @DISEASE$ affecting a long segment of the abdominal aorta and left @PHENOTYPICFEATURE$.	false
+629e3d8729acf39c7ec6987faec66f51b2566665	We report the unique case of a boy with the diagnostic criteria of @DISEASE$ accompanied by atypical @PHENOTYPICFEATURE$ and macroorchidism without precocious puberty.	false
+439f565526370110f154615b68a0393a98cb3260	These include: peripheral precocious puberty secondary to congenital adrenal hyperplasia, familial male-dominant precocious puberty, and @DISEASE$, short stature in boys secondary to growth hormone deficiency, familial/genetic @PHENOTYPICFEATURE$, constitutional growth delay or idiopathic short stature.	false
+83619f9b716d4ef2112ee934c2af66d69a9ce01d	These include: peripheral precocious puberty secondary to congenital adrenal hyperplasia, familial male-dominant precocious puberty, and @DISEASE$, @PHENOTYPICFEATURE$ in boys secondary to growth hormone deficiency, familial/genetic short stature, constitutional growth delay or idiopathic short stature.	false
+681d6ff07c0755ec31fa8fa38c8f2970da0b5f26	These include: peripheral precocious puberty secondary to congenital adrenal hyperplasia, familial male-dominant precocious puberty, and @DISEASE$, short stature in boys secondary to growth hormone deficiency, familial/genetic short stature, constitutional growth delay or idiopathic @PHENOTYPICFEATURE$.	false
+35ce983798e32148d2afa9cc961264e143c1ff34	In the present study, we evaluated the @PHENOTYPICFEATURE$ that accompanied @DISEASE$ in a patient with an OPA1 mutation.	false
+cb15b6cc2991ae5274e1ba70579aae9056e29e84	@DISEASE$ differs from @PHENOTYPICFEATURE$ and sensorineural hearing loss; a specific constellation of findings on audiologic evaluation are diagnostic of this disorder.	false
+6c831f9a97f376ee01ce1b11808b55cf674443e3	Incidence of hearing loss was 4%; sensorineural hearing loss was observed in 1,4% of the subjects; 0.24% had @DISEASE$; and 2.2% had @PHENOTYPICFEATURE$.	false
+1a3061aab8a44461983a183dd440317bd923a123	developmental delay, intellectual delay, @PHENOTYPICFEATURE$, thin 8(th) nerve with retrocochlear auditory dysfunction (as described in cases of @DISEASE$/dyssynchrony).	false
+80ddb986def1926d9c19ce76b4e74ab3abcee5a4	Based on this case, we suggest that vestibular evaluation should be performed in @DISEASE$ patients carrying an OPA1 mutation, even if the patients are free of symptoms of @PHENOTYPICFEATURE$.	false
+ebafafb968bcd159b000f213e624b3d5386b5ad2	5 (2.99%) of all @PHENOTYPICFEATURE$ cases with unilateral atresia and 2 cases with @DISEASE$ (AN) were found.	false
+91169202ba8366e92c62e10fe2955088ba92dce6	With the positive outcomes after cochlear implantation and the improvements in technology and surgical techniques, candidacy for cochlear implantation in children has been expanding to include hearing-impaired children with significant residual hearing, severe inner ear malformations, multiple handicaps such as mental retardation or @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f66e9b8daef06f4353f1af6e9f98ec49579399fb	Conclusions This study shows that the prevalence of auditory neuropathy spectrum disorder (@DISEASE$) in the children with inner auditory canal (IAC) stenosis is much higher than those without IAC stenosis, regardless of whether they have other inner @PHENOTYPICFEATURE$.	false
+dffd37502eafe9006e112b65f7287ac5ebb4baf6	Conclusions This study shows that the prevalence of @DISEASE$ (ANSD) in the children with inner auditory canal (IAC) stenosis is much higher than those without IAC stenosis, regardless of whether they have other inner @PHENOTYPICFEATURE$.	false
+7fd3298201d3512947ee21424130985ab9ca9e0c	To elucidate the causal genetic variant in a large US family with co-occurrence of @DISEASE$ as well as skeletal and eye abnormalities (ie, @PHENOTYPICFEATURE$, myopia, and retina detachment).	false
+766c079cca7379cb16d9d521afdb445a2c564332	Testicular adrenal rest tumors, oligospermia, and @PHENOTYPICFEATURE$ are frequently associated with subfertility in men with all forms of @DISEASE$.	false
+bd4c440956101a5b9acb18fad76b341cdb388164	Congenital adrenal hyperplasia (@DISEASE$) owing to 21-hydroxylase deficiency is caused by the @PHENOTYPICFEATURE$ of mutations in the gene CYP21A2.	false
+6902dcfc8dc9ad366fc9d69cd62b65fa73bfd8b0	Twelve (46.1%) of the 26 @DISEASE$ cases with BN developed cirrhosis including 4 cases of early @PHENOTYPICFEATURE$.	false
+78b6c319a6bb161f5bdb974f0af06bd39d4c44f3	Recently, in three unrelated boys, @DISEASE$ was associated with intrauterine growth retardation (IUGR), metaphyseal dysplasia and @PHENOTYPICFEATURE$, defining a new association called IMAGe.	false
+4237cb8e81aa5f7c12d89c967131a42fedad94ae	Mutations in the 11?-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (@DISEASE$), an @PHENOTYPICFEATURE$ disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis.	false
+ee1403656fb23753115ab58bf0095b33edd8fb0f	We recommend that sequencing of entire genes for rare mutations should be carried out when genotype-phenotype nonconcordance is observed in patients with @PHENOTYPICFEATURE$ monogenic disorders, including @DISEASE$.	false
+3800cddbe31844d42daa773206352e1abcc38920	Studies of patients with salt-wasting @DISEASE$ found that up to 10% had clinical features of EDS, associated @PHENOTYPICFEATURE$, haploinsufficiency of TNX and heterozygosity for TNXB mutations, now called "CAH-X."	false
+8c823e7bb2dcc03543f4619ca5c710ef2958d597	Congenital adrenal hyperplasia (@DISEASE$) is an @PHENOTYPICFEATURE$ disorder associated with inborn errors of steroid metabolism.	false
+e1eff574473502283b7a01ebf35e23ad685110c7	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$ (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis.	false
+969d93e7dd0e4532445b722854f6ab0ba78896d0	Jaundice was infrequent in patients with chronic hepatitis or early @PHENOTYPICFEATURE$; clinical symptoms and laboratory tests are of little value in differentiating CPH from @DISEASE$ or in detecting early cirrhosis.	false
+ac8afd2d5008f3fe2e452c8cbb91f4e25dc77904	Both from a clinical and from a histopathological point of view, our two cases showed some similarities with those previously described in patients with Nicolau-Balus syndrome, @DISEASE$, and so-called eccrine-pilar @PHENOTYPICFEATURE$.	false
+65e24d17bc47abc4981fad52f40976a4bd6bc410	OPD II is transmitted as an X-linked recessive trait, whereas AO I, AO III, and @DISEASE$ are considered to result from a new dominant @PHENOTYPICFEATURE$, and Melnick-Needles syndrome is inherited as an X-linked dominant trait.	false
+b9a8e31b174dd70b2826fcbc17293f76221eaad6	Endocrine @PHENOTYPICFEATURE$: @DISEASE$ is a more aggressive disease: a systematic review and meta-analysis.	false
+c7cf0ee015b6e03b6afb15c9ebde5a5b2bb91690	@DISEASE$ (ICD) is associated with @PHENOTYPICFEATURE$.	false
+47543cec6a5586cf69c55c73f43b398925ebb631	Autistic features are found in @DISEASE$, a neurological disorder affecting girls and associated with @PHENOTYPICFEATURE$.	false
+a50533ff3b7f6a67566dfea73b08734b8556eadd	Stereotype hand movements are one behavioural manifestation of @DISEASE$, a neurodegenerative disorder resulting in @PHENOTYPICFEATURE$.	false
+3e855b3f11f9e2a84b85a304154be6d30b68c178	@DISEASE$ (RTT) is a neurodevelopmental disorder which causes @PHENOTYPICFEATURE$.	false
+df91dbd0d411b7af42b64c75e368b348c0b6fd52	@DISEASE$ (RTT) is an X-linked neurodevelopmental disease accountable for some of the @PHENOTYPICFEATURE$ of females.	false
+f0806bdac60e5307808b9056e66afca92be0fd99	Features of autism in @DISEASE$ and @PHENOTYPICFEATURE$.	false
+d052801e6fcbf82aad2350f2a150678091625dff	We describe the case of a patient with @DISEASE$, a syndrome characterized by progressive infant encephalopathy, developmental delay, dementia, autism, @PHENOTYPICFEATURE$, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation.	false
+cb69861ea06efc046c675e48b0cdf97456e79fad	We describe the case of a patient with @DISEASE$, a syndrome characterized by progressive infant @PHENOTYPICFEATURE$, developmental delay, dementia, autism, ataxia, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation.	false
+a0f742a12b4f4810cc241fb86262df720d4d7b97	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and a host of impairments that include social and motor deficits, and respiratory and bone abnormalities.	false
+d8cbf2450cd58e428294eca346f956e809b600d2	Using the Internet to pilot a questionnaire on childhood @PHENOTYPICFEATURE$ in @DISEASE$.	false
+d135c92c144b8be709273940267ba8e0d774f0f1	@DISEASE$ (RTT) is one of the most prevalent female neurodevelopmental disorders that cause @PHENOTYPICFEATURE$.	false
+d5155403036dfd29bc806186ee89116f5fd250e1	@DISEASE$ (RS), a neurodevelopmental disorder almost exclusively affecting girls, is associated with severe intellectual and motor @PHENOTYPICFEATURE$.	false
+1a360933ccfeb2aadddb611d34363414df54a1eb	Achieving urinary continence is a major goal in the treatment of patients with @DISEASE$/epispadias, @PHENOTYPICFEATURE$ and other urological disorders.	false
+d605bcaa68e32df1a057b63d66558f5caffd8e52	MeSH terms evaluated were; bladder augmentations, enterocystoplasty, gastrocystoplasty, spina bifida, @PHENOTYPICFEATURE$, myelodysplasia, neural tube defects, posterior urethral valves and @DISEASE$ were cross referenced with the terms, bladder cancer and urinary bladder neoplasm.	false
+77b5378fd634d248654dca2d792519ca1c0bd8b1	In 2 cases, the megacystis resolved spontaneously while the umbilical cord cyst worsened in appearance; among them, massive @PHENOTYPICFEATURE$ of the umbilical cord was documented in 1, and evidence of partial @DISEASE$ was detected in the third trimester in the other.	false
+07b02beca411282f92a8ae65cbfff0dbb7a61d71	Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, @DISEASE$, omphalocele, and @PHENOTYPICFEATURE$.	false
+7a5051237f8587025d2bcbe7477f4268823bc309	@PHENOTYPICFEATURE$ (25% vs 5%), ectopia cordis (11% vs 0), and @DISEASE$ (7% vs 0) occurred predominantly in exomphalos major.	false
+4a3b744331ad05a76de5647342b390fc3fff96ce	However, selected patients with @PHENOTYPICFEATURE$ and children with congenital malformations like @DISEASE$ and resulting small bladder capacity might require bladder augmentation.	false
+d861164e9eb6727caf491ff5f6f2a2cc837925f9	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (@PHENOTYPICFEATURE$, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+27d2e59bc916f6b31400c5e82a3a869d3492c963	All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include @DISEASE$, the Holt-Oram syndrome, and the VATER (@PHENOTYPICFEATURE$, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association.	false
+b7cf9f5fa3a3af28eead3fc3d51f6cb6030187eb	@PHENOTYPICFEATURE$ in siblings with @DISEASE$.	false
+7dac006caaef25acb7fb9971678aca85d3b22ef9	We present a case in which minimal symptoms were present despite a massive temporal bone @DISEASE$ and @PHENOTYPICFEATURE$.	false
+7a200b4e20405c5acc53d284228f002d3dc7c438	@PHENOTYPICFEATURE$, @DISEASE$, myeloma, and metastasis arise within the clivus.	false
+b8b1051431dc83fa10f7076b334fc20dbd48aa9e	@DISEASE$ invaded the external ear canal, stenosis of which causes a @PHENOTYPICFEATURE$.	false
+c546504a9255b6cd958051dab30034d3126c90eb	@DISEASE$ of the temporal bone with @PHENOTYPICFEATURE$.	false
+be06cd1d6325eeb25ad9f8b4b538a450e6f052b3	@DISEASE$ is a benign localized bone disorder of unknown aetiology in which endocrinopathies, @PHENOTYPICFEATURE$ of the skin and mucous membranes may form part of the disease.	false
+db74459c0124a04f2311e45b50682508f866c1f5	Temporal bone @DISEASE$ and @PHENOTYPICFEATURE$ leading to the development of a parapharyngeal abscess.	false
+d5793d95328bb702cef2aae059c9c071dc5990ee	There were 6 cases of congenital patella pseudoarthrosis, 1 case of @DISEASE$ of femur and tibia, 3 cases of @PHENOTYPICFEATURE$ deformity caused by infantile paralysis, 16 cases of fracture malunion.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+f387d7c93170c5e0ccec367bddd2f1a4c1fe5d9c	@PHENOTYPICFEATURE$ and @DISEASE$ of the temporal bone: case report and review of the literature.	false
+353b402e1aba4eae264a650d0fec502ff6d986bd	@DISEASE$ of the temporal bone with complete canal stenosis and @PHENOTYPICFEATURE$.	false
+af365b8c2a1a9dfdd982bb57ee7f3624676c02e5	Acute skin @PHENOTYPICFEATURE$ lesions that follow allogeneic hematopoietic stem cell transplantation (HSCT) and are histologically diagnosed as graft-versus-host disease (@DISEASE$) are often associated with reactivation of latent herpes simplex virus (HSV).	false
+9e0015a4f11e30a2006bf9c5c8107b7b13b107bc	One month after bone marrow transplantation, he developed cutaneous graft-versus-host disease (@DISEASE$) involving the palms and soles, which was followed 12 days later by the appearance of multiple @PHENOTYPICFEATURE$ follicular papules and plaques on his face, auricles, and postauricular area.	false
+db26cf5ba767ad45b62480711d80d66fa27490be	Sclerotic and @PHENOTYPICFEATURE$ skin lesions were observed over the face and extremities, and a diagnosis of chronic graft vs. host disease (@DISEASE$) was made based on skin biopsy findings.	false
+eb0fe359979fb065e456437d652d83fa9e3d9b8a	This article reports an unusual case of @DISEASE$ (ARS) associated with severe maxillofacial and @PHENOTYPICFEATURE$.	false
+94b9af06cb87b5d9570586338e569ecb4d73b1cf	@DISEASE$ associated with severe maxillofacial and @PHENOTYPICFEATURE$.	false
+fc6362fac4fa6311503ca53688bb70a95d4659d8	Our findings suggest that Foxc1 is an important transcriptional partner of Ihh-Gli2 signalling during endochondral ossification, and that disruption of the Foxc1-Gli2 interaction causes @PHENOTYPICFEATURE$ observed in the @DISEASE$.	false
+0641e359da38d14925cc837596fcf656c297ff66	@DISEASE$ (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft @PHENOTYPICFEATURE$ posture, and developmental retardation.	false
+a1aaf4a2b364fc60d416c85d9d4fd41e0c5d8be7	We present an interesting, unusual and complex case of a young man who initially presented with symptoms suggestive of @DISEASE$ and later developed malignant @PHENOTYPICFEATURE$.	false
+845dd61117ab33d627b5057ff4b66f462da45459	Estimates for @DISEASE$ (TB), asthma, and @PHENOTYPICFEATURE$ are of intermediate confidence.	false
+129b3bdc3e003e4bb4d762669303a49951738cbd	We suggest a mainstreaming approach including greater integration of fungal diseases into existing HIV infection, @DISEASE$ infection, diabetes, chronic respiratory disease, and @PHENOTYPICFEATURE$ health programmes; provision of enhanced laboratory capacity to detect fungal diseases with associated surveillance systems; procurement and distribution of low-cost, high-quality antifungal medicines; and concomitant integration of fungal disease into training of the health workforce.	false
+7fb6f442cd1a88c94c0273277422a589b047fe1e	The prompt recognition of this condition is extremely important since the presence of optochiasmal enhancement is associated with @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+54cedac6de8834a65f43d18a72438e17c74f27bf	@DISEASE$ is a rare inherited form of pancreatitis, characterized by recurrent episodes of acute pancreatitis with early onset and/or chronic pancreatitis, and presenting brittle diabetes, composed of episodes of nonketotic @PHENOTYPICFEATURE$ and severe hypoglycemia.	false
+2ce8dd36df284840081b563e369dd6836e3bdbd5	Chronic pancreatitis is a rare disease in children and is usually secondary to underlying diseases such as @DISEASE$, cystic fibrosis, @PHENOTYPICFEATURE$, prolonged malnutrition, gallstones or anomalies of the biliary-pancreatic duct system.	false
+871dd2bbd7217a82c3ed28e88668935d441e0426	[@DISEASE$ and @PHENOTYPICFEATURE$: Adams-Oliver syndrome].	false
+73cba4d34d86421b2eb56c2cbb24ee5db0a9ed25	We report a family with four known generations of individuals in the maternal family tree with @DISEASE$ (ACC) of the scalp, congenital heart lesions, @PHENOTYPICFEATURE$, and frontonasal cysts.	false
+118291e8011515995f8df4c0747df71d1bad7bfb	We suggest that AOS should not merely be considered a syndrome consisting of @DISEASE$ and terminal transverse limb defects but rather a constellation of clinical findings resulting from an early embryonic @PHENOTYPICFEATURE$.	false
+2cdc85bd8f62a89709a6c2be67b2763dc196410b	We describe two sibs with @DISEASE$, one of whom has developed moya-moya disease resulting in severe physical handicap and @PHENOTYPICFEATURE$.	false
+4ed134ac151104c1e4aa5bb4c681dd7b9c7e6e0b	@DISEASE$ associated with @PHENOTYPICFEATURE$ and supernumerary nipples: report of a second family with similar clinical findings.	false
+1fc01979bd06e6e72cd5c0c8ea2493aab15a0aaf	@DISEASE$, spastic paralysis, and @PHENOTYPICFEATURE$.	false
+b57b00c4bedfe4c6db8c87920d65f9b24cd2b162	The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, @DISEASE$ of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis, dermatoglyphic alterations, @PHENOTYPICFEATURE$, clinodactyly, phalangeal aplasias and hypoplasias, right leukoma, abnormal EEG, and other findings.	false
+cb2e5d17469139e3b7250804df71393d4723cc4c	A rare case of @DISEASE$ with refractory @PHENOTYPICFEATURE$.	false
+868925da6ecada124682b585dc3268e67d375751	Although the presentation of @DISEASE$ with @PHENOTYPICFEATURE$ is unusual, aplasia cutis congenita should, based on the present case, be considered as at least in part a neurocutaneous disorder.	false
+dbf7d322b8e8fdb117ad05ce141979476ae6ee1c	Although the presentation of aplasia cutis congenita with @PHENOTYPICFEATURE$ is unusual, @DISEASE$ should, based on the present case, be considered as at least in part a neurocutaneous disorder.	false
+8d727de330534cd21f05a7a26de7511e17fe4d4c	The significant incidence of deafness in this series of @DISEASE$ (p < 0.05) shows that @PHENOTYPICFEATURE$ is an important feature of FSHD.	false
+36c5fd45d8bc1c3cfa25571213009c09d7c8f4f3	The significant incidence of @PHENOTYPICFEATURE$ in this series of FSHD (p < 0.05) shows that deafness is an important feature of @DISEASE$.	false
+ed269ccf7d1bf2defa10be47feaf38c008db268f	The significant incidence of @PHENOTYPICFEATURE$ in this series of @DISEASE$ (p < 0.05) shows that deafness is an important feature of FSHD.	false
+2164865ed27e71cff7c4400e45920ab1a4586891	The significant incidence of deafness in this series of FSHD (p < 0.05) shows that @PHENOTYPICFEATURE$ is an important feature of @DISEASE$.	false
+709d5175f8c87362ed6fdeb135378c60d22d1594	[The study of @PHENOTYPICFEATURE$ in patients with @DISEASE$].	false
+c73aef932efcbcbdce4b3c6f2367c6b09e0419f9	@PHENOTYPICFEATURE$ has long been associated with the rarer forms of severe childhood and infantile @DISEASE$.	false
+75e9cedf58d9d515d3e2486f904c74024266fde9	We describe the findings of a multicenter investigation aimed at detecting @PHENOTYPICFEATURE$ in 83 @DISEASE$ patients, 44 males and 39 females with a mean age of 47 years.	false
+8c9832bbb7993606e935dd495afaeb507e32028e	Overweight and @PHENOTYPICFEATURE$ are common in patients with facioscapulohumeral dystrophy (@DISEASE$) and myotonic dystrophy type 1 (DM1).	false
+6f6413f859c2b7a5cc39d1816eb3fc5fd17b6dcb	Overweight and @PHENOTYPICFEATURE$ are common in patients with @DISEASE$ (FSHD) and myotonic dystrophy type 1 (DM1).	false
+09be9a41a3e284ffd414f9e0956d6bb65851c727	FAT1 lies near the critical locus involved in causing FSHD, and Fat1 mutant mice also show retinal vasculopathy, mimicking another symptom of FSHD, and showed abnormal inner ear patterning, predictive of @PHENOTYPICFEATURE$, reminiscent of another burden of @DISEASE$.	false
+14bfaa73295c01e2fa2ed63c2d082bd4a1371484	FAT1 lies near the critical locus involved in causing @DISEASE$, and Fat1 mutant mice also show retinal vasculopathy, mimicking another symptom of FSHD, and showed abnormal inner ear patterning, predictive of @PHENOTYPICFEATURE$, reminiscent of another burden of FSHD.	false
+436abdbdfddf8d38a5ba74a087d06cf27db5e466	Absence of @PHENOTYPICFEATURE$ in adult onset @DISEASE$.	false
+5a86faa883ad6a71026c32eb710c5204fce2749c	There was no significant difference in the prevalence of @PHENOTYPICFEATURE$ in @DISEASE$ patients at any single or averaged frequency tested.	false
+e4887224496a77de917c81bdc82e7496673174eb	Male sex and @PHENOTYPICFEATURE$ were significantly associated with LH/FSHD; white race was significant associated with LH/@DISEASE$ and TSHD.	false
+8e0c13ea23207389b30c49381ba6d746916124b7	Male sex and @PHENOTYPICFEATURE$ were significantly associated with LH/@DISEASE$; white race was significant associated with LH/FSHD and TSHD.	false
+7ade48f1466e2e1a470cba15673d8629ef7d7dd4	Retinal telangiectasis in @DISEASE$ with @PHENOTYPICFEATURE$.	false
+982a201352add51aac61ded612f5fa474d0ead9a	Biallelic LARP7 loss-of-function variants underlie @DISEASE$ characterized by @PHENOTYPICFEATURE$ and intellectual disability.	false
+e93231fa7bb65e3c5f728ca7d1c8724827329da2	Gait impairment is common in @DISEASE$ (MS), but is mostly attributed to @PHENOTYPICFEATURE$ and ataxia.	false
+9946a85a8625f9f238eadadadb75e0d5ec83684f	Gait impairment is common in @DISEASE$ (MS), but is mostly attributed to spasticity and @PHENOTYPICFEATURE$.	false
+5b7bb326920900c42e72ba8bf2afee7df2d72fea	'Scanning speech' has been used as a description of a prominent characteristic of the dysarthria of @DISEASE$ (MS) as well as of @PHENOTYPICFEATURE$ dysarthria in general.	false
+0185703fe2f191cf43585c45be3d3fc3fb8a9b50	'Scanning speech' has been used as a description of a prominent characteristic of the dysarthria of @DISEASE$ (MS) as well as of ataxic @PHENOTYPICFEATURE$ in general.	false
+354333e1c42d5951a40b9b2ab629fc60d8795bcd	@DISEASE$ is a chronic inflammatory disease of the central nervous system, with accumulating disability symptoms like @PHENOTYPICFEATURE$, voiding disorders, depression, and pain might occur.	false
+d6ec35d2ac2fa5d0c8dc38e5b57d8f4e71ff6340	@DISEASE$ is a chronic inflammatory disease of the central nervous system, with accumulating @PHENOTYPICFEATURE$ symptoms like spasticity, voiding disorders, depression, and pain might occur.	false
+a5e4cdc769338d7b67dd1ac646028a35603ac3a9	Temporal speech characteristics of individuals with @DISEASE$ and @PHENOTYPICFEATURE$ dysarthria: 'scanning speech' revisited.	false
+d62d50100198a1b210f4444b3aacb28b8e4a0f50	Temporal speech characteristics of individuals with @DISEASE$ and ataxic @PHENOTYPICFEATURE$: 'scanning speech' revisited.	false
+07d53796788688720a524cd077d4d134f089664a	Slow and irregular oral diadochokinesis represents an important manifestation of spastic and ataxic @PHENOTYPICFEATURE$ in @DISEASE$ (MS).	false
+e8e5fdbefaff2ed270b65b9f25c2dd2967ce01dc	Slow and irregular oral diadochokinesis represents an important manifestation of spastic and @PHENOTYPICFEATURE$ dysarthria in @DISEASE$ (MS).	false
+9dfb0c0e7f9681f7d45616b8a13193a3d1b43429	Effect of cannabinoids on spasticity and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+e5e0914a5fbbe7b5b1593245e271f3f26749562b	Effect of cannabinoids on @PHENOTYPICFEATURE$ and ataxia in @DISEASE$.	false
+ca2be3b42ff0512c447ae537cae9fc414a8fe3a2	Paroxysmal dysarthria (PD) and paroxysmal dysarthria-@PHENOTYPICFEATURE$ (PDA) syndromes are uncommon symptoms of the neurological dysfunction in @DISEASE$ (MS).	false
+a9d102ae3b4a2048f8e1c1a6f04258b430b610c5	Paroxysmal dysarthria (PD) and paroxysmal @PHENOTYPICFEATURE$-ataxia (PDA) syndromes are uncommon symptoms of the neurological dysfunction in @DISEASE$ (MS).	false
+cc7b1f2e955b84ac3d56a1945796a952f8f41852	Initial clinical presentation may mimic severe CNS infection with fever, encephalopathy, @PHENOTYPICFEATURE$, or @DISEASE$.	false
+0d03ba823e75cc423adc873b1a19ebb1db306810	Initial clinical presentation may mimic severe CNS infection with fever, @PHENOTYPICFEATURE$, seizures, or @DISEASE$.	false
+fa54a0909ed15e263a9ead05cf8e2a8bbb0fffdd	@DISEASE$ (MS) can result in significant mental and physical symptoms, specially muscle weakness, abnormal walking mechanics, balance problems, @PHENOTYPICFEATURE$, fatigue, cognitive impairment and depression.	false
+d87e23b0d2ed0fde55627bca3a5ad0a545941bdd	@DISEASE$ (MS) can result in significant mental and physical symptoms, specially muscle weakness, @PHENOTYPICFEATURE$ mechanics, balance problems, spasticity, fatigue, cognitive impairment and depression.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+8a0638fb648f2fc207a44b774a2768db5b6c3d8e	@DISEASE$ is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and @PHENOTYPICFEATURE$.	false
+29d8d332bd1f97891c163aa16ef9303bc9aeeeff	Very-low-birth-weight children had 3.2 times higher odds of @PHENOTYPICFEATURE$/@DISEASE$.7 times higher odds of ADD/ADHD, 5.4 times higher odds of development delay, and 4.4 times higher odds of intellectual disability than normal-birth-weight children.	false
+2a3e301f1ec43fcb47ce049551f758231fe8694d	Prevalences were 1.7 per 1000 for all @DISEASE$.1 per 1000 for @PHENOTYPICFEATURE$, and 0.6 per 1000 for PDD-NOS and Asperger syndrome combined.	false
+9c8512b9dacb7c7165557626f578080727bdad09	Deficiency in this enzyme activity is associated with @DISEASE$, characterized by hypertyrosinemia, liver dysfunction, renal tubular dysfunction, liver cirrhosis, and hepatic @PHENOTYPICFEATURE$.	false
+43c52b8994f1dfbfe7dc278ab0bce34e5ff93598	The disorders discussed in the present review are the motor neuron diseases, @PHENOTYPICFEATURE$, myasthenic syndromes, and myopathies, including @DISEASE$.	false
+a597388e38256fa7a60a2ef63413c8af41a967cd	(1) Sodium channelopathies: familial generalized epilepsy with @PHENOTYPICFEATURE$ plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, episodic ataxia type 1; (3) calcium channelopathies: episodic ataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine, hypokalemic periodic paralysis, central core disease, @DISEASE$, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia.	false
+b798cc79db331400dcc54bbc5c3b3c93c0ee64ca	@DISEASE$ presenting with bilateral deafness and @PHENOTYPICFEATURE$.	false
+f0e1a471b45b6ad3f55dbb46d770a2bf09d5528f	[Deafness and @PHENOTYPICFEATURE$ as the beginning of @DISEASE$].	false
+8561e3ce12408ad20362eedbeae952974a21bb50	[A rare complication of @DISEASE$: @PHENOTYPICFEATURE$ of thalamic origin].	false
+d5b8f32bf3b1c466bc91787d5997f1d3ccdb78cc	@DISEASE$ presenting as acute @PHENOTYPICFEATURE$.	false
+b50257c154c9174c6c5ae111bb9c31fd68107d96	We describe a healthy, afebrile 26-year-old man who presented to the emergency department with left @PHENOTYPICFEATURE$ and cranial nerve deficits caused by @DISEASE$.	false
+668f4a929615994969cf9b311d1a771443bd758a	He was subsequently proved to have @DISEASE$, and the deafness and @PHENOTYPICFEATURE$ resolved following appropriate antibiotic therapy.	false
+7b8bfd6b595751aee384b7cb0eb13521d17d02dd	@DISEASE$, stress fractures, infection, myositis ossificans, histiocytosis, and other lesions can mimic @PHENOTYPICFEATURE$ and delay correct diagnosis.	false
+d90e9c979588d79cd96612ce300fcef3d37f0a05	Focal space-occupying lesions such as @PHENOTYPICFEATURE$, abscesses, hematomas, aneurysms, and @DISEASE$ (dissecting or otherwise) were delineated by ultrasound and their extent defined.	false
+f1c623a0672aff278d232b904b66e7e7c0aa9f4f	The unregulated emotions sub-scale of the @DISEASE$ was associated with lower @PHENOTYPICFEATURE$ frequency.	false
+6ff73145c966acdb5c84579dc3209ab422ec72f4	Extrapyramidal motor signs occurred in all forms of @PHENOTYPICFEATURE$, but frequency and type of @DISEASE$ varied between genetically and clinically defined subtypes.	false
+526333414a35817d75363d7d643102b903402159	Among these diseases, patients with @DISEASE$ or FTNS develop progressive nephritis and hearing @PHENOTYPICFEATURE$.	false
+67fd234f05b21380219643dd0310b4cd2b26aea8	Extrapyramidal motor signs (@DISEASE$) are well-known symptoms of degenerative @PHENOTYPICFEATURE$.	false
+753247da8e9cec8e6def229e37c5b754d9da5878	Diagnostic and prognostic impact of @DISEASE$ in subtypes of @PHENOTYPICFEATURE$ was analyzed by Kaplan-Meier plots.	false
+9263e6d1351f47005cd4628f68aa1fc543a87fed	However, little is known about frequency and appearance of @DISEASE$ in subtypes of @PHENOTYPICFEATURE$.	false
+39c96a465d6ac941a5296cc084183e44a018e193	It is characterized by the association of a progressive spondylo-@DISEASE$-metaphyseal dysplasia and @PHENOTYPICFEATURE$ ranging from mild to severe.	false
+ee009d17c645962250282b435fbc41a486ecc6c3	The most common types of @DISEASE$ presented in the patient group were hypomimia ([facial mask] 60 percent), difficulty in talking (53.66 percent), bradykinesia (51.4 percent), postural instability (47.33 percent), @PHENOTYPICFEATURE$ (34.66), and rigidity (26 percent), respectively.	false
+47861fb9d174f39bd6c8fe450c1e31ee68ba65d7	Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo @DISEASE$ metaphyseal dysplasia associated with @PHENOTYPICFEATURE$.	false
+20305dca7ce2c6d23bd9bd6742cf36a7006e0caf	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability.	false
+322d9c944ba93de8e4c3e4b6e05c44ce521aae3e	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+be155ed5f2068d4a3b4f8f8d313c1315b0afce72	We describe a constellation of distinctive @PHENOTYPICFEATURE$ in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (@DISEASE$): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively.	false
+42864eb76220bb28613f11d6d2b915153081fdd6	We report what might be a constellation of unreported @PHENOTYPICFEATURE$ in a child with OFD type II (@DISEASE$).	false
+9b4a2145d0fe551a8909112cc5de8913a9080329	Oral-Facial-Digital syndrome or @DISEASE$ is a rare congenital disorder characterized by malformations of face, oral cavity, laryngeal structures, trachea, and digits, muscular-@PHENOTYPICFEATURE$, and congenital cardiac defects.	false
+472d5fad64777d22a216208d10b2e97effb31ef4	These deficits may be related to @PHENOTYPICFEATURE$ previously reported in @DISEASE$ children.	false
+34668e36b81ba91e6fe66c8ebea2c70b78b7d8da	Neural tube defect and @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+081ee0e5ab5b78055d49d2592e0a32b7300dc06c	@DISEASE$-positive tumors were larger than Fas-negative tumors [mean @PHENOTYPICFEATURE$ volume (ml) +/- SD, Fas(+), 265.6 +/- 136.8;	false
+41c0b02ed8c2d03b530abe618f470d09b572f19b	@DISEASE$-positive tumors were larger than Fas-negative @PHENOTYPICFEATURE$ [mean tumor volume (ml) +/- SD, Fas(+), 265.6 +/- 136.8;	false
+628c3e22b1ed005bcbf6428b8658a19f6c708243	@DISEASE$-positive @PHENOTYPICFEATURE$ were larger than Fas-negative tumors [mean tumor volume (ml) +/- SD, Fas(+), 265.6 +/- 136.8;	false
+a6fb91e4ebc0d21163750c5a3d7344cbe8484fd1	Fas-positive @PHENOTYPICFEATURE$ were larger than @DISEASE$-negative tumors [mean tumor volume (ml) +/- SD, Fas(+), 265.6 +/- 136.8;	false
+9ebe2d65f533ffb4b282997992f4d3d700bbbef0	Fas-positive tumors were larger than @DISEASE$-negative @PHENOTYPICFEATURE$ [mean tumor volume (ml) +/- SD, Fas(+), 265.6 +/- 136.8;	false
+7b36841dfe1f9f44b62251a9538fa4e3b3ba1526	Fas-positive tumors were larger than @DISEASE$-negative tumors [mean @PHENOTYPICFEATURE$ volume (ml) +/- SD, Fas(+), 265.6 +/- 136.8;	false
+368bf978449ceae0e25745ed2c723d15f84e1ad3	Patients with Fas-positive @PHENOTYPICFEATURE$ exhibited significantly longer survival times than patients with @DISEASE$-negative carcinomas.	false
+ae3984689466385797bc5982ddb06c3f62bacca2	Patients with @DISEASE$-positive @PHENOTYPICFEATURE$ exhibited significantly longer survival times than patients with Fas-negative carcinomas.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+7f08b497612ae922b4be1f5afe3375731d99078b	Gestational exposure to ethanol causes @DISEASE$, which is associated with @PHENOTYPICFEATURE$.	false
+bd8d08223ab734a09674ad7de87f97a466631360	Extrahepatic biliary atresia and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6977d65ba21ad59345ab22aaa3b5dbc8a3e08908	@DISEASE$-positive @PHENOTYPICFEATURE$ were associated with decreased KLF4 expression.	false
+7a998e5dcb8b1180d14e86452d7262cf38d1360f	@PHENOTYPICFEATURE$ in experimental @DISEASE$ (FAS) is associated with impaired insulin-stimulated survival signaling.	false
+85821f2b8014a6d0d22b83516522157122a89f96	In @DISEASE$ (FAS), @PHENOTYPICFEATURE$ is associated with impaired insulin-stimulated survival signaling.	false
+0dbd936412323aa53a7232bacb1f941f4934778e	[@DISEASE$ @PHENOTYPICFEATURE$.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+0dbd936412323aa53a7232bacb1f941f4934778e	[@DISEASE$ @PHENOTYPICFEATURE$.	false
+80016be32e2a9cbaed7995a26751fa0512865f16	[@DISEASE$ @PHENOTYPICFEATURE$].	false
+ebde50342d27b77757a9dfd21c2ea406d478d7c6	Common biochemical abnormalities inclueded @DISEASE$ dysfunction, hypoalbuminemia and @PHENOTYPICFEATURE$.	false
+d6026cb5f00120ef9413d4ff8c11fdbbd242f8cb	Torsed pedunculated @DISEASE$ @PHENOTYPICFEATURE$.	false
+0dbd936412323aa53a7232bacb1f941f4934778e	[@DISEASE$ @PHENOTYPICFEATURE$.	false
+e25e2cb0aaabb0a23a0311d8e8c96783a37a0e64	[@DISEASE$ @PHENOTYPICFEATURE$ in infants].	false
+3e1e7c43c2b0c574e9e7276b840f6a96af9fab46	Mesenchymal @DISEASE$ @PHENOTYPICFEATURE$.	false
+587ab5f8a9170b18cdb50cd3d4cce49aa1349ffb	Large solitary @DISEASE$ @PHENOTYPICFEATURE$.	false
+6c82f0962eed9025a7ed9e521c2a701ee5a3d6c9	@DISEASE$ with @PHENOTYPICFEATURE$ in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.	false
+ef43134be0c9fdba96f5fd6328abaede341f853c	We report on a family affected by @DISEASE$, characterized by radiological signs limited to the tibia, and associated with overweight or @PHENOTYPICFEATURE$, which is not a known feature of this disorder.	false
+3ff8ed3e914eea1f70a5aa61b1cbad5f4c1165bf	Although ocular complications in @DISEASE$ appeared to be associated with relatively well preserved visual acuity, ophthalmological follow-up is recommended to identify potentially curable complications such as astigmatism or @PHENOTYPICFEATURE$.	false
+52c51cfffef16e549f27ccbc6548740bea4e1574	Severe @PHENOTYPICFEATURE$ and oral xanthomas in @DISEASE$.	false
+3e5e46b12a947608e0f834146f316434818f398b	@DISEASE$ is a rare developmental disorder combining bile duct paucity, congenital cardiopathy, @PHENOTYPICFEATURE$, vertebrae defects, and ocular abnormalities, and frequent renal abnormalities.	false
+1cf3bf2ec052ccea0e11a32baa4eb5ed4848179b	We report the case of an infant hospitalized for neonatal anoxic ischemia in whom the diagnosis of @DISEASE$ (SAG?; MIM # 118450) was suspected in the presence of major cholestasis, cardiac malformations, suggestive @PHENOTYPICFEATURE$, and vertebral and ocular abnormalities.	false
+74b86c27df056a92a8429d09b8c09a4900eeba8a	Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+fe7083aa9bd071e03e04747942b4eab70c5c3f0a	The association with @PHENOTYPICFEATURE$, embryotoxon posterior, pulmonary stenosis and vertebral deformities are required for the diagnosis of the complete @DISEASE$.	false
+8ba634f04c38861361878f7b9fa3fca551f76f85	Ozzy, a Jag1 vestibular mouse @PHENOTYPICFEATURE$, displays characteristics of @DISEASE$.	false
+a872393dfaa2bbcc62ada4cb3e25f7e7456216a5	@DISEASE$ is frequently associated with @PHENOTYPICFEATURE$ and xanthoma.	false
+fc25d3b778d8bd0f4ba8ee8024052e8c8bdad7db	@DISEASE$ is a complex multisystem disorder characterized by bile duct paucity, cholestasis, cardiac defects, vertebral anomalies, ophthalmologic changes, and @PHENOTYPICFEATURE$.	false
+b26e6d3823512d23b336d98e240bf35c733dab70	A 15-year-old girl evaluated for @PHENOTYPICFEATURE$ and delayed puberty was found to have features of syndromatic @DISEASE$ or Alagille's syndrome.	false
+337149b5787cf5faf457f554d6ea6539df34ef99	Clinical manifestations of @DISEASE$ are complex with multiple organ involvement, resulting in renal insufficiency, @PHENOTYPICFEATURE$, acute respiratory distress syndrome, and liver involvement.	false
+953dddb8fc81af8d9f91e4dbfbd38396dd6a3d2e	[@DISEASE$ and acute @PHENOTYPICFEATURE$.	false
+a836b97db9f6ce70d675c4c96cf01c27d8511a3c	We hypothesized that infants with @PHENOTYPICFEATURE$ would have more significant OSA than those with isolated cleft palate ? cleft lip (ICP), and those with @DISEASE$ would have more significant OSA than controls.	false
+95b708ece72ddeda3d2bada6f5215849c9b1712b	@DISEASE$ (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+05bf35fa4eb298e177f16ee6ddb3142047ca0214	Its presentation affects multiple organ systems, including severe failure-to-thrive with @PHENOTYPICFEATURE$, characteristic facial features, @DISEASE$, papillomata, malignant tumors, and cognitive impairment.	false
+e14061854eeff0718d892fdf6dd9142bef316e7a	The clinical spectrum of SCO2 deficiency includes the delayed development of @DISEASE$ and severe @PHENOTYPICFEATURE$.	false
+d88405958df2677d97f0b5de850854ae5ffc1490	Costello syndrome was delineated based on its distinctive phenotype including severe failure-to-thrive with @PHENOTYPICFEATURE$, characteristic facial features, @DISEASE$, papillomata, malignant tumors, and cognitive impairment.	false
+3e98acf823f5a719513c6544de9f373817bde247	Eleven patients had @DISEASE$; other clinical signs included hypotonia, hepatomegaly, facial dysmorphism and @PHENOTYPICFEATURE$.	false
+d7e510d81b8ece3de32c6f2da9fe9ae88189db9b	We report a 10-year-old girl presenting with severe neonatal @DISEASE$ (HCM), feeding difficulties, mildly @PHENOTYPICFEATURE$ features, and progressive skeletal muscle symptoms but with normal cognitive development.	false
+07871b46385d13ee9b59a677d8e8717fd02ff9b3	Its presentation includes failure-to-thrive with @PHENOTYPICFEATURE$, characteristic facial features, @DISEASE$, papillomata, malignant tumors, and cognitive impairment.	false
+f09ebf34db13be4319d4a7277fa2e3327d4d1f59	Woolly hair and @PHENOTYPICFEATURE$ may present with @DISEASE$.	false
+c8e7dc4d756b8585b2cfd20bcfa97fb190946642	Mutations in SCO2 have been associated with severe COX deficiency and early-onset fatal infantile @DISEASE$, encephalopathy, and @PHENOTYPICFEATURE$.	false
+7f5c3c396ea699bd61f673437517ecab34a213b2	The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, @PHENOTYPICFEATURE$, keratosis pilaris, and @DISEASE$.	false
+40bc78c0f138a5de3f9fe637734db02f8cf50418	To report three unrelated infants with a distinctive phenotype of Leigh-like syndrome, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+4004504ecae2f9f787ad72a2b9cbf1a851fa34c1	However, several hyperferritinemic conditions are not related to iron overload, but may imply severe disorders (inflammations, @PHENOTYPICFEATURE$) or a deregulation of ferritin synthesis (@DISEASE$), and iron overload secondary to aceruloplasminemia, and the recently described dysmetabolic-associated liver iron overload syndrome, are characterized by low or normal transferrin saturation levels.	false
+deaf257c969fabac848dcc4dc0538f43de9e9bfe	Alpers-Huttenlocher disease (@DISEASE$) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and @PHENOTYPICFEATURE$, usually associated with signs and symptoms of liver dysfunction.	false
+09ecb470475286992d5c1ee862fe32470ff1bba5	Here, we present a case of a female diagnosed with PCOS who after treatment with metformin for more than two years, reported with hyperuricemia, migraine, neurological @PHENOTYPICFEATURE$, severe joint and knee pains on shoulders and legs, and @DISEASE$.	false
+4acc20903fc9e9f9f287b7cc92528743652e256e	The significant risk factors for @DISEASE$ in patients with SAP include history of renal disease, @PHENOTYPICFEATURE$, and ACS.	false
+be77f53addd0d7c2fb3a47499a8fef1a9604100f	Of nine patients with Sneddon's syndrome, three had rheumatic heart disease (@PHENOTYPICFEATURE$, regurgitation, or both) due to @DISEASE$ or Sydenham's chorea.	false
+f61e9ec767cc824e5d3e74307c15c07bcb8b2b0c	@PHENOTYPICFEATURE$, most often caused by @DISEASE$, is uncommon in the United States.	false
+d6e490ddc32afd7012acbc5bc45547a140d5948d	Numerous pharmacological studies have supported the use of Polyalthia species against @PHENOTYPICFEATURE$, @DISEASE$, haemorrhages and inflammation in traditional medicine.	false
+9aab224145b030e11b7a4b2f4841dd758259c40c	Association of external auditory canal atresia, vertical talus, and @PHENOTYPICFEATURE$: confirmation of @DISEASE$.	false
+9ad53e607edd36ef9438b3eabe88965b6839db1b	From the therapeutic perspective, magnetic stimulation applied repetitively has been found useful, with different degrees of efficacy, in treating resistant depression, @PHENOTYPICFEATURE$, psychogenic dysphonia, Alzheimer disease, autism, Parkinson disease, dystonia, stroke, epilepsy, generalized anxiety as well as post traumatic stress disorder, auditory hallucinations, chronic pain, aphasias, obsessive-compulsive disorders, L-dopa induced dyskynesia, mania and @DISEASE$, among others.	false
+887169555f8dd298b6cd824fefa3d71d751838e4	Last, as a conclusion, we highlight the possibility of performing routinely genetic diagnosis of most hereditary tubular diseases (Bartter/@DISEASE$, nephrogenic diabetes insipidus, distal tubular @PHENOTYPICFEATURE$, and Lowe and Dent syndromes).	false
+8dd4c4d9e8adf863b5e3a2a054ab4e51aad91847	A boy presenting with familial @PHENOTYPICFEATURE$--diagnosis @DISEASE$.	false
+77d26f84d3cfe5427d218ef435634f9c6dd6470b	Electrolyte disturbances may occur in pSS, such as renal distal tubular @PHENOTYPICFEATURE$, diabetes insipidus, @DISEASE$ or Fanconi syndrome.	false
+08474c64a8effbc088c5c0c4bbeeb48ba14305ae	[@DISEASE$ in a child presenting with @PHENOTYPICFEATURE$].	false
+d81cede3ac978a20d7dee601c57f888fa02721fd	Three-quarters of our tubulopathies cohort included individuals with clinical suspicion of @DISEASE$, kidney hypophosphatemia and kidney tubular @PHENOTYPICFEATURE$.	false
+84879b16a6d12bdd35a478428aa6c53985d7ef5b	Patients with @DISEASE$ had tetanic episodes (12/16) or @PHENOTYPICFEATURE$ (3/16) at school age (14/16).	false
+f17bc6f84017ce02ec8515424ff42fce5a3a56a7	The two patients presented many characteristics typical of Bartter syndrome (suggestive facies, @PHENOTYPICFEATURE$, hypokalemia, metabolic alkalosis, renin increase, decreased chloride resorption) and of @DISEASE$ (late onset, few symptoms, hypomagnesemia, hypocalciuria, normal renal concentration).	false
+364979bdb870fdd16ca7b1a0d7e0a438a0dbf01f	@DISEASE$: a rare abdominal @PHENOTYPICFEATURE$.	false
+74a1815bf076313d6510a90fd0fa56c99bbd98bc	Laparoscopic management of obstructing small bowel @DISEASE$ @PHENOTYPICFEATURE$.	false
+2bf89f3145adfa8f09330d5db7e06e77a6e61e84	? Twin pregnancy ? @DISEASE$ @PHENOTYPICFEATURE$ ? Multidisciplinary team.	false
+462aad3c0eda70ff37dc36da42d973818134089e	Duodenal @DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+4a5e10435f84596fc60dfba3b23730590c3a094f	[Severe lower gastrointestinal bleeding due to @DISEASE$ @PHENOTYPICFEATURE$.	false
+62394e371b0cf380862f0b418495781a6ae034db	@DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+798c28d3e77db2d5f8c16aa12b07984d5850fb9d	@DISEASE$ @PHENOTYPICFEATURE$ of the gastric wall].	false
+b1c9474c50d6e7e4efbfc6e5b7a69ed48a8a3784	[Thoughts on @DISEASE$ @PHENOTYPICFEATURE$].	false
+094f66914fdd6985965dba11cbda4b7ef9237455	@DISEASE$ (GIST) are solid @PHENOTYPICFEATURE$.	false
+6c523ccc7f44ba6a302cf8726bdcaf64f10d52ff	Targeted therapy in sarcomas other than @DISEASE$ @PHENOTYPICFEATURE$.	false
+4712a5fd64b3687a4ba7df1bb0e9fbaeeba86833	Although radical operation of @DISEASE$ performed six years before might have induced the development of re-expansion @PHENOTYPICFEATURE$ in our case, complete collapse with quick re-expansion of the lung is clearly a potential risk of re-expansion pulmonary edema.	false
+a1ab30b0dc6e25be2e5390f2f511777dc74058c5	Although radical operation of @DISEASE$ performed six years before might have induced the development of re-expansion pulmonary edema in our case, complete collapse with quick re-expansion of the lung is clearly a potential risk of re-expansion @PHENOTYPICFEATURE$.	false
+368fdf206eab76cbbbfe5466bfe19a9d963832cf	The filamentous fungus Fusarium verticillioides can cause disease of maize and is capable of producing fumonisins, a family of toxic secondary metabolites linked to @DISEASE$ and neural tube defects in humans and @PHENOTYPICFEATURE$ in swine and leukoencephalomalacia in equines.	false
+1a96696a6b6f630f02dba5753ae9d9bc2a71d010	Mycotoxin intoxication by fumonisin B? (FB?) and fumonisin B? (FB?) can cause porcine @PHENOTYPICFEATURE$; leukoencephalomalacia in equines; @DISEASE$ and birth defects by natural contamination.	false
+4df8ad3df20f38d18d9da3a161860642b6ce12d7	The measurement of X-ray density on a chest radiograph is useful for prediction as well as early management of patients with @PHENOTYPICFEATURE$ following esophagectomy for thoracic @DISEASE$.	false
+76284ac030fa7c62eae43239c552c8db83eb8721	@PHENOTYPICFEATURE$ is the most frequent postoperative complication following esophagectomy for thoracic @DISEASE$.	false
+f750268752ac4eef3fe8aa2012d540173c28aab7	These mycotoxins have been pointed to as a natural cause of equine leukoencephalomalacia, porcine @PHENOTYPICFEATURE$, and human @DISEASE$.	false
+df5447188314ea84876d6bf7b3cafd4ba312a669	Fumonisin B1 (FB1), a mycotoxin produced by Fusarium verticillioides, causes equine leukoencephalomalacia and porcine @PHENOTYPICFEATURE$ and has been implicated in the etiology of @DISEASE$ (EC) in the Transkei, South Africa.	false
+0cddd41cd5a8961be7eaf63cba7189a8f288588b	These results indicate that the EVLW is the optimum parameter for the control of the respiratory function and early diagnosis of @PHENOTYPICFEATURE$ after surgery for @DISEASE$.	false
+fc094b40f61fc7762ae6ee08e4ff002c2bd51d21	Fumonisin B1 is a mycotoxin produced by Fusarium moniliforme, a fungus that infects corn and other grains in the U.S. Fumonisin ingestion causes a variety of effects including equine leukoencephalomalacia and porcine @PHENOTYPICFEATURE$, and has been associated epidemiologically with human @DISEASE$.	false
+63c19faf421edd0296071580be0ea476e75d6921	Consumption of food contaminated with Fusarium moniliforme causes leucoencephalomalacia and hepatotoxicity in horses, @PHENOTYPICFEATURE$ in pigs and liver cancer in rats, and has been correlated with @DISEASE$ in humans.	false
+7f35f920d4ee1975a4964886007d2703e559d172	Micro-/sclerocornea, keratoglobus, and keratopathy, micro-/buphthalmia, glaucoma, @PHENOTYPICFEATURE$, spherophakia, retinal detachment, papillary drusen, strabismus, and amblyopia were found associated with @DISEASE$.	false
+7877352107d58d61a0b0fae83d548b8ad54e9310	Novel occurrence of @DISEASE$ in a patient with blepharophimosis @PHENOTYPICFEATURE$ epicanthus inversus syndrome.	false
+a4939a0e642e3d38f167f50268b7fbadfc89bb35	The management of individuals affected by @DISEASE$ requires a multidisciplinary approach and would include dedicated surveillance and management of glaucoma, @PHENOTYPICFEATURE$, and cardiac, endocrinological, craniofacial and orthopaedic abnormalities.	false
+f1c0d7424ff8a7685deb7ae8803837f27f8fddb7	Out of three patients with biliary atresia, one patient had severe visual impairment caused by @PHENOTYPICFEATURE$ and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had @DISEASE$.	false
+3370d6eb58a322c3936ef4b4333275ea4b9db8de	To describe ultrasound biomicroscopy (UBM) features in a patient with @DISEASE$ (ARS) and @PHENOTYPICFEATURE$ before and after anterior segment surgery using intraocular lens (IOL) and aniridic ring implantation (Morcher Aniridia rings 50 D).	false
+e8d643bc960f7fc63f22c10f4c3cec49d42f6d97	Combined aniridia ring implantation and @PHENOTYPICFEATURE$ surgery in an @DISEASE$: a UBM report.	false
+6de3efed39aa8e64a64c4646f9301c2c9dc6bc9c	Here, embryotoxon posterius, synechiae out to Schwalbe's line, and hypoplasia of the iris stroma in the form of @DISEASE$ are associated with: myelinated corneal nerves concurrent with appearance of vessels without scleralization, unilateral orbital hypoplasia without @PHENOTYPICFEATURE$ and without enophthalmos within the scope of a unilateral facial hypoplasia, bilateral epicanthus with asymmetry of the lid-openings without hypertelorism, bilateral delayed development of the tear ducts, horizontal myopic astigmatism and bilateral relative amblyopia, dental deformation, urogenital malformation, deformation of the joints, slightly delayed mental development, ataxia, normal karyotype.	false
+44ed370adf560dc8824cefcb687e922e809d46cc	Sera of some patients with acquired @PHENOTYPICFEATURE$, @DISEASE$ and motor neuron disease have high titres of IgG autoantibodies to a minor human peripheral nerve glycoprotein of approximately 36 kDa.	false
+48f383feabbd645db524ace9beebef7334e21c98	Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by @PHENOTYPICFEATURE$, congenital heart abnormalities, @DISEASE$ and severe growth retardation.	false
+0bf203355dea52e4479db605032a4e3e8c55767b	Here we report on a newborn with @PHENOTYPICFEATURE$, cleft palate, spiky hair, @DISEASE$ and that are observed with Bamforth syndrome.	false
+ceec88d308de9fec76486f58e6f7a3ab245fe5a7	Young-Simpson syndrome is a rare congenital disorder, characterized by @DISEASE$, congenital heart defects, @PHENOTYPICFEATURE$, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation.	false
+574445931a3b7df95816784ce7c1e793c03426cb	Young-Simpson syndrome: further delineation of a distinct syndrome with @DISEASE$, congenital heart defects, @PHENOTYPICFEATURE$, and mental retardation.	false
+54256d474808b7adaed068ce26deeed5ddf72d80	Both hypothyroidism groups had a @PHENOTYPICFEATURE$ gain compared with the control group, while the @DISEASE$ group had the lowest body weight.	false
+e47d3f2b00cebdf62c7f7bf0aea3b5d9bc7da690	We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant @DISEASE$, cholestatic liver disease, bilateral congenital glaucoma and @PHENOTYPICFEATURE$.	false
+d2836ea0e5340331e7a7f3c8cd9b843eed5db755	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by @DISEASE$, @PHENOTYPICFEATURE$, postaxial polydactyly, and mental retardation.	false
+32afe2cbbe9f50331b795674793036b378ae2a1e	In humans, a mutation in the Glis2 gene has been linked to the development of nephronophthisis (NPHP), a recessive cystic kidney disease, while mutations in Glis3 lead to an extended multisystem phenotype that includes the development of neonatal diabetes, polycystic kidneys, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1771955fc9ed74886d954bfbf934891a31706cbf	These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDSN, APCDD1 and SNRPE for the @PHENOTYPICFEATURE$ form of @DISEASE$, and the genes DSG4, LIPH and LPAR6 for the autosomal recessive forms of hypotrichosis as well as U2HR for hypotrichosis type Marie Unna.	false
+d20c9c33528a849cbe06727202acae6da4b04ab0	Tyrosine hydroxylase deficiency, a cause of the autosomal recessive form of L-@DISEASE$, has been associated with a broad spectrum of @PHENOTYPICFEATURE$ and clinical courses.	false
+8d9f3a05a0212e3cb48e9508d6203ab958725bf5	Genetic atypical Parkinson's disease (PD) describes monogenic forms of PD that resemble idiopathic PD but feature prominent atypical clinical signs and symptoms and can be sub-grouped into i) atypical monogenic forms caused by mutations in the ATP13A2, DNAJC6, FBXO7, SYNJ1, VPS13C, and DCTN genes; ii) monogenic PD more closely resembling idiopathic PD, but associated with atypical features in at least a subset of cases (SNCA-, LRRK2-, VPS35-, Parkin-, PINK1-, and DJ-1-linked PD; iii) carriers of mutations in genes that are usually associated with other @PHENOTYPICFEATURE$ but may present with parkinsonism, such as @DISEASE$.	false
+2d442f13a0597ec169217e0fcf3abb253e3293cb	Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (@DISEASE$), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of @PHENOTYPICFEATURE$.	false
+eb09be9ba9dca805452a2e027200e59f9d81ae50	@DISEASE$ is a rare hereditary @PHENOTYPICFEATURE$ caused by mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) gene.	false
+4196f2a5d46dfb5359c13802b56ca66741ce25c9	@DISEASE$ (DRD) is a rare form of hereditary @PHENOTYPICFEATURE$ with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa.	false
+975b50df985d81e7f3f8b23d6053aae228e54ab5	Of 16 patients, we reached a conclusive diagnosis for 11 (4 patients with GLUT-1 mutations, 4 patients with early Parkinson's disease, 2 with @DISEASE$, and one with a psychogenic/functional @PHENOTYPICFEATURE$).	false
+64447b4a33e651bcc779b337cfb1f07c8ed417a6	@DISEASE$ (DRD), a @PHENOTYPICFEATURE$ characterized by onset in early childhood and a dramatic response to low doses of levodopa, has been shown to be caused by a number of different mutations in the GCH1 gene.	false
+5a6bc65a217e85016d77577784d41139f1edc16d	Furthermore, several neurological diseases, including @DISEASE$, but also Alzheimer's disease, Parkinson's disease, @PHENOTYPICFEATURE$ and depression, have been suggested to be a consequence of restricted cofactor availability.	false
+01a672e877a64f96e6cd0ce4fe4a7f90e205ec3a	In the absence of a potent, specific GTPCH-1 inhibitor, natural BH4 deficiency caused by mutations in GCH1 in the rare @PHENOTYPICFEATURE$, @DISEASE$ (OMIM DYT5), offers the opportunity to study the role of endogenous BH4 in humans.	false
+d6ac4f403d5b5a77403479d341c9aafe4dc2d8b2	@DISEASE$ (DRD), a @PHENOTYPICFEATURE$, is characterized by young onset dystonia and dramatic response to levodopa treatment.	false
+85c798c93cab9fbf87f22c07a402cf8621e45357	Short rib (@PHENOTYPICFEATURE$) syndrome type IV: @DISEASE$.	false
+8b757a14f18deda44d4bbed5b4746f5ff83f0c2e	@DISEASE$ or short-rib @PHENOTYPICFEATURE$ type IV, was first described in 1983, and has, thus far, remained without a defined molecular basis.	false
+9a736cf117ec2fb8aeb9d939e1eb8d1226df1827	Subtle ultrasonographic appearance of @DISEASE$: a case report of prenatal diagnosis of isolated simple fetal @PHENOTYPICFEATURE$.	false
+0344cf681dfb955e5d8f135364eeb17843b4f2eb	The brain of a child with @DISEASE$ (DS) and @PHENOTYPICFEATURE$ is described.	false
+24b7f01fa29ba2cc481d23c1264afc1f4a99f01b	5-hydroxyindole levels in the blood and CSF in @DISEASE$, phenylketonuria and @PHENOTYPICFEATURE$.	false
+1dba8b0bc8e0a0e5e410529a1ca4454b76fe611f	Atypical @DISEASE$ phenotype with severe developmental delay, @PHENOTYPICFEATURE$, and seizures in a child with translocation trisomy 21.	false
+d068520555cf14411dd3997b8b6667aeb65a2cf3	Atypical @DISEASE$ phenotype with severe developmental delay, hypertonia, and @PHENOTYPICFEATURE$ in a child with translocation trisomy 21.	false
+e9b2ae56a905b02dbc7e9ad8eb6585e184652ae5	Hashimoto @PHENOTYPICFEATURE$ and @DISEASE$.	false
+f3ec17b9556b0673024bda8013bfe7ef315c9a98	@DISEASE$ (DS) is the most common genetic cause of @PHENOTYPICFEATURE$.	false
+88833ef0873c76e7f52d004444ccb06017e06705	This is mainly an effect of the very high mortality in children with @PHENOTYPICFEATURE$, predominantly cases of @DISEASE$.	false
+2c9d8b9fb18b2f0713311d73d4aeaa23ee5a7c79	@DISEASE$ (DS) is the commonest cause of @PHENOTYPICFEATURE$ in children.	false
+985c2512b8af90d409940feffb1eb89655fcfa6b	Insulin resistance in an 18-year-old patient with @DISEASE$ presenting with hyperglycaemic @PHENOTYPICFEATURE$, hypernatraemia and rhabdomyolysis.	false
+75f964567880d3669c73ea136f6116bfdd43d298	She was a pregnant adult suffering from @DISEASE$ and @PHENOTYPICFEATURE$.	false
+c65a06225aaad6c8a8bdb49876f1205577d78f21	In summary, overexpression of wild-type Diap3 in two lines of transgenic mice results in hearing loss that recapitulates human @DISEASE$ @PHENOTYPICFEATURE$.	false
+202800b978f2388609de186043cea53cafbb9703	We conclude that @DISEASE$ deafness does not share a common etiology with @PHENOTYPICFEATURE$ associated with monosomy 13q21.2-q31.3;	false
+1115f398f8b09e52cc116c8c7e3969761d7944cc	We conclude that @DISEASE$ @PHENOTYPICFEATURE$ does not share a common etiology with deafness associated with monosomy 13q21.2-q31.3;	false
+ac440c4c4b8599b0684544210b605c2ae0395e54	Six of the seven patients with @PHENOTYPICFEATURE$ also had @DISEASE$.	false
+4000c2b5c1f5cf8447d182fd053521e79d586dab	We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital @DISEASE$, cerebral and @PHENOTYPICFEATURE$, and intracranial calcification.	false
+a3556b09da52c7ac9ee502498ca494f5f97f30f4	We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital @DISEASE$, cerebral and cerebellar hypoplasia, and @PHENOTYPICFEATURE$.	false
+687d99e97c892fa7cfe72734602bd6b15776e5d7	FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7ba172d460a2d4a99c643d15d1afd28cf52f78ad	Lissencephaly with brainstem and @PHENOTYPICFEATURE$ and congenital @DISEASE$.	false
+7ba172d460a2d4a99c643d15d1afd28cf52f78ad	Lissencephaly with brainstem and @PHENOTYPICFEATURE$ and congenital @DISEASE$.	false
+d96c831a694dfe93ca3289dcdd51705cf644051c	He had no evidence of @PHENOTYPICFEATURE$ of the limbs or @DISEASE$.	false
+99515dd4ddfd8f439bc981e9e717a0e42ab00d00	@PHENOTYPICFEATURE$ and @DISEASE$ were also identified.	false
+5cce246bfc6ab419f2112244c93add52baf42597	The clinical features included muscle weakness, sensory disturbances, @PHENOTYPICFEATURE$, dementia, and @DISEASE$.	false
+880ad4046045bbea8b666ef481f203ef9f216a01	The clinical features included @PHENOTYPICFEATURE$, sensory disturbances, neurogenic bladder, dementia, and @DISEASE$.	false
+95deda484eef58ee186ca177370630b7988516af	Ocular @PHENOTYPICFEATURE$ with glycerol in @DISEASE$ surgery.	false
+bd2e84c11310007dcba663ba556e5cc4564f3894	Glare testing in patients with @DISEASE$ after @PHENOTYPICFEATURE$.	false
+dba6b4e15943c5440b3b7dd82b04f3c7312d3ed5	@DISEASE$-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in the SPG3A gene, and is characterized by progressive motor weakness and @PHENOTYPICFEATURE$ in the lower limbs, without any other neurological abnormalities.	false
+9c66ffc443516f472e8947458b29f56fb7e5fb75	[Contribution to the knowledge of cerebroplegia familial @PHENOTYPICFEATURE$; @DISEASE$].	false
+f6ad6de375015819d4990a134882060060cb3bef	Compared with other reported cases of @DISEASE$ syndrome, the present case was unique because of the coronary artery-left ventricular fistula, @PHENOTYPICFEATURE$ and the familiar incidence of heart failure.	false
+87be0dc0924babbd72f4c21d7d533dbdafa1d5ae	Compared with other reported cases of @DISEASE$ syndrome, the present case was unique because of the coronary artery-left ventricular fistula, heart failure and the familiar incidence of @PHENOTYPICFEATURE$.	false
+28d7e289eb1833af426d6cbcc9908ffd155045b1	Five out of 21 patients with @DISEASE$ had neuropsychiatric symptoms (panic attack, psychosis, conversion, and somatization disorders) that overlapped with their @PHENOTYPICFEATURE$ semiology and were found to benefit from the use of RNS ECoG data by timely diagnosing and titrating targeted therapies.	false
+a5a9adf1d2dea6f5d3c04f2df01b968de2f4a249	In a patient with @DISEASE$/NeuroPace implanted bi-temporally and type 1 diabetes mellitus, @PHENOTYPICFEATURE$ event times and onset locations were matched to continuous tissue glucose.	false
+478704ee75c1a50d3a0597ec9b16d08c1aeca469	The Majewski syndrome or @DISEASE$ (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to @PHENOTYPICFEATURE$.	false
+d6ed939d177a00779e02594a0f355d1ff06e6bab	The gene families and genetic lesions underlying @DISEASE$, FHM1/CACNA1A, FHM2/ATP1A2, and FHM3/SCN1A, and monogenic mitochondrial migraine syndromes, provide a robust platform from which genes, such as CACNA1C, which encodes the calcium channel mutated in Timothy syndrome, can be evaluated for their role in @PHENOTYPICFEATURE$ and bipolar disease.	false
+05fda77ff6c0a2cc981ea7e04fc7514e80cc694e	These findings suggest that the severity of @PHENOTYPICFEATURE$ induced by chronic @DISEASE$ may be species dependent.	false
+9f6f03f5373aa23260f28dd05b7fa6523f8d7460	We report the case of a 50-year-old patient with familial @DISEASE$, a serum calcium of 19 mg/dl, nephrocalcinosis, and @PHENOTYPICFEATURE$.	false
+210ad03ae93e3e4b0d7e379239bb2dc3eb3e1e97	Some cutaneous changes, such as the multiple angiokeratomas of Fabry disease or the plexiform neurofibromas of @DISEASE$, are pathognomonic of genetic disorders, which often lead to @PHENOTYPICFEATURE$.	false
+169d0c5c72f130367aa5dbaedd88b25ea8b1f28e	Unidentified bright objects (UBO) and tumors are well-known @PHENOTYPICFEATURE$ in @DISEASE$ (NF1).	false
+05b2aa4ce16fd4db43434dce6c13c1f35128524f	isolated hemihypertrophy; sporadic aniridia, which is almost always associated with del(11p13); @PHENOTYPICFEATURE$, particularly male pseudohermaphroditism and the Denys-Drash syndrome; and more weakly associated or uncommon conditions, such as @DISEASE$ and Perlman syndrome, respectively.	false
+2129d886305d5556312e3c7b4ca764313fac78ed	A 54-year-old female with history of @DISEASE$ who presented with severe hypercalcemia and @PHENOTYPICFEATURE$ secondary to over supplementation of calcium and vitamin D.	false
+51110e7dd0287a03020db6b7fbd531f9cc57273b	@PHENOTYPICFEATURE$ in a case with @DISEASE$.	false
+b209e9f0c936b341fb5cdda48c18c70c59ef61d7	Common musculoskeletal impairments associated with @DISEASE$ (NF 1) include cervical pain, @PHENOTYPICFEATURE$, muscle stiffness, headaches, and postural deviations.	false
+e8a0dc0b33e701e8e8a27b0eea7b32671f4b56f7	[@PHENOTYPICFEATURE$ and vertebral indentations in a case of @DISEASE$ type I].	false
+c131498c2ad009a838199b3e8eb72eda358a75c4	The treatment of infection with enterohemorrhagic Escherichia coli(EHEC) aims for early prediction and prevention of severe complications such as hemolytic-uremic syndrome, @PHENOTYPICFEATURE$ and/or @DISEASE$.	false
+e62bba8bf958de6db8ac4e929518d8eb56dcb3f1	Independently, lower @DISEASE$ was associated with increased risk of onset of @PHENOTYPICFEATURE$ (both measures), particularly so for those placing themselves on the lowest rungs of the social ladder.	false
+6e217b04a5d00ffddb22bac10e93552b67dc22ff	To report a patient with silent sinus syndrome (@DISEASE$) who experienced transient ipsilateral monocular @PHENOTYPICFEATURE$ during intense laughter.	false
+20eae5856fa5ec2a1fd62616393ed2d8b1f615a7	We report two patients with Salla disease: a two-year-old girl, presented with hypotonia, inability to speak and walk, bilateral @PHENOTYPICFEATURE$, defective myelination, cerebellar atrophy, and thinning of the corpus callosum on magnetic resonance imaging (MRI), who was classified as intermediate severe Salla disease; and a four-year-old girl, presented with relatively late-onset, slight hypotonia, and delayed language and mobility development, and supported by relatively protected MRI findings, who was classified as conventional @DISEASE$.	false
+174f11facd6729ab1f106a9874d3e840f8c6d44c	We report two patients with @DISEASE$: a two-year-old girl, presented with hypotonia, inability to speak and walk, bilateral @PHENOTYPICFEATURE$, defective myelination, cerebellar atrophy, and thinning of the corpus callosum on magnetic resonance imaging (MRI), who was classified as intermediate severe Salla disease; and a four-year-old girl, presented with relatively late-onset, slight hypotonia, and delayed language and mobility development, and supported by relatively protected MRI findings, who was classified as conventional Salla disease.	false
+525ae215e9ca2c577b27c4b47620edcbd5076402	A total of 112 patients with Pelizaeus-Merzbacher disease, hypomyelination with congenital cataract, hypomyelination with hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$, Pelizaeus-Merzbacher-like disease, infantile GM1 and GM2 gangliosidosis, @DISEASE$ and fucosidosis were included.	false
+c78eeef780b3658ec3b9ebe55dfabb53a84c1dbf	As changes in mucopolysaccharide metabolism may be associated with an increased risk of developing neoplasms, the possibility of an intracranial @PHENOTYPICFEATURE$ should be considered in patients with @DISEASE$ and high-pressure hydrocephalus.	false
+bf2b8634d0d7829f70042c236d9d00083166529a	@PHENOTYPICFEATURE$ and mongolian spots in @DISEASE$.	false
+656094bfe6428bc7b88c2e5e50d1ba432366b439	Three patients with @PHENOTYPICFEATURE$ also had @DISEASE$.	false
+6ea58599a5151be937df4c5057d57aed5b62ca43	@PHENOTYPICFEATURE$ in non-steroid treated @DISEASE$.	false
+5304ddf2ef2e3a6716190a4338cc7403c40cc3b1	@PHENOTYPICFEATURE$ in @DISEASE$ (JRA).	false
+115ad60a4aed4fd8c421e4fc34b38ffc8a3080d0	We report a case of atlantoaxial vertical subluxation with @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+477a670748107bae62ea046747004dbaf20efa73	Dysphagia and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+274a0a4e4abde0ecfd4e5378e9388a92094b1e0b	@PHENOTYPICFEATURE$ and delayed puberty in children and adolescents with @DISEASE$.	false
+ec942ca3f9a0f9a75cfb4c473f6bd0c1e2faa524	An underdeveloped mandible and resulting @PHENOTYPICFEATURE$ and malocclusion may occur in some children with @DISEASE$.	false
+396db3b935a0fff0997266688d91a9883feb06e5	[Endocrinological studies on @PHENOTYPICFEATURE$ in children with @DISEASE$ (author's transl)].	false
+411eb783c1583838b826fbad03033ccf256d08ba	Radiographic temporomandibular joint abnormality in adults with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+527ecc8ae979b837eb3acb459742782f28af0b58	@PHENOTYPICFEATURE$ is a frequent complication of severe @DISEASE$ (JIA).	false
+6e4f2431a9643338cd09928a75af3fb48860e054	@DISEASE$ and @PHENOTYPICFEATURE$ status aggravated by oxcarbazepine.	false
+65bf388cc74b838fc45713eda1d824da0996864a	A multivariate analysis evaluating risk factors for @DISEASE$ was performed including the following factors: age, gender, @PHENOTYPICFEATURE$ location, associated comorbidities, emergency surgery, synchronous liver metastasis, malnutrition, and surgical approach.	false
+9997f64da9d94afc59a488e67792d0e527c73aad	However, despite early and lifelong dietary treatment, many @DISEASE$ patients go on to experience serious long-term complications including cognitive @PHENOTYPICFEATURE$, speech problems, neurological and/or movement disorders and, in girls and women, ovarian dysfunction.	false
+bc58f2cd2d4a13636b6acc4a6d1d93ce4f12a72a	This study describes risk factors associated with @PHENOTYPICFEATURE$ in children with classic @DISEASE$.	false
+8f12403904c287b290b3f6bd919c1373453fa44f	Screening of congenital hypothyroidism, phenylketonuria, @DISEASE$, homocystinuria, and maple syrup urine disease in moderate to @PHENOTYPICFEATURE$ Chinese children.	false
+cb4638c3c7b353021f3bbf4d4c099ef5e6e21ce4	@DISEASE$ leads to accumulation of galactose and galactose 1-phosphate (gal-1-P) in blood and tissues and, if untreated, produces neonatal death or @PHENOTYPICFEATURE$, cirrhosis of the liver, and cataracts.	false
+997745ee77cd176246ab127d607c9c1b6c9516a5	Two specimens had a @PHENOTYPICFEATURE$, one had cleft lip and palate, and two had an @DISEASE$.	false
+97ff350c7087524e6797e48a791c66ff91a83480	Distinguishing characteristics include cleft lip with or without cleft palate, @DISEASE$, bilateral @PHENOTYPICFEATURE$, hypodontia, normal intelligence, and an autosomal-dominant mode of transmission with a high degree of penetrance.	false
+a6d002275f7288cbcbb0ce24ece12160dcb0e6d1	Two cases of congenital @PHENOTYPICFEATURE$ with cleft lip and alveolus and an @DISEASE$ are described to illustrate the variable presentation of the clinical features and the importance of early recognition of Van der Woude syndrome because of the genetic implications.	false
+1abcd4f3ad92470511e08a9de8b5d7564988e1d2	[Palmoplantar epidermal atrophy with hypokeratosis, dys- and @PHENOTYPICFEATURE$, hypodontia, enamel and dentin hypoplasia, @DISEASE$ with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?].	false
+84ce5e351aa8f60c574c260245897be3c5f94cd0	Association of fatty acid-binding protein 2 and fat mass and @PHENOTYPICFEATURE$-associated gene polymorphism with @DISEASE$.	false
+b208fd236044198c5e43c1df553dd54b76212f17	Predisposing risk factors associated with central retinal vein occlusion are @PHENOTYPICFEATURE$, sedentary life style, smoking, and some systemic diseases such as hyperlipidemia, hypertension, associated autoimmune disorders e.g., antiphospholipid antibody syndrome, lupus, diabetes mellitus, cardiovascular disorders, bleeding or clotting disorders, vasculitis, closed-head trauma, alcohol consumption, @DISEASE$ or angle-closure glaucoma.	false
+660482eeb2f6bf7031c18d4809fee2c6ea7ace7c	Twenty-four months before death due to @PHENOTYPICFEATURE$, this seventy-three-year-old female patient underwent filtration surgery for @DISEASE$ uncontrolled in the right eye.	false
+f5ecbc9069ca0f44aa1973747a3c6dba7a20d190	Hormone producing ovarian tumors, @PHENOTYPICFEATURE$ with functioning stroma, tumor related paraneoplastic and paraendocrine syndromes, @DISEASE$ and neuroendocrine tumors may include in this category.	false
+ddc585c7232927707158236aef75220dc67a9a50	Hormone producing @PHENOTYPICFEATURE$, ovarian tumor with functioning stroma, tumor related paraneoplastic and paraendocrine syndromes, @DISEASE$ and neuroendocrine tumors may include in this category.	false
+cb7749378ced9d12b9c8138477ed255f376c7ae1	There may be radiological characteristics of either @PHENOTYPICFEATURE$ or @DISEASE$ in the middle ear area, but the diagnosis of the coexistence of the 2 is usually made only postoperatively.	false
+ef8f91662d888b4710a5d2d3cbc3a3f38dceaeee	The most common neoplasms of the posterior skull base, including the CP angle, are neurinoma, meningioma, nasopharyngeal carcinoma, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0d9e1b7500493986b4b042bd77cbb7a1d29a12e8	@DISEASE$ presenting as chronic otitis media with @PHENOTYPICFEATURE$: pitfalls and strategies.	false
+cb5f43570cd84896b083cfbd2be04ef6ba7fc4cc	These data (1) confirm that ART acts as a differentiation factor for autonomic (chiefly sympathoadrenal but also parasympathetic) neurons, (2) suggest a role for ART overexpression in the genesis of pheochromocytomas and @DISEASE$, and (3) indicate that ART is not a suitable therapy for @PHENOTYPICFEATURE$.	false
+96dffeb2fb812b0c3057ff8966fcc0f96c761af8	The coexistence of @DISEASE$ with @PHENOTYPICFEATURE$ is a very rare clinical disorder.	false
+85da25f596b9052682c384eb281e52c24cea1905	Tumors of the tympanic cavity are rare, with the exception of @PHENOTYPICFEATURE$; otherwise, the most common among them are @DISEASE$ and facial nerve neuroma.	false
+8e66d7c065c35501831c52c883ab378cd36e86fd	We report on a 13-month-old girl suspected of having CMMRD due to a @DISEASE$ and a striking skin pigmentation that included multiple caf?-au-lait macules, @PHENOTYPICFEATURE$ areas and Mongolian spots.	false
+55738272d6d6d61d0882be526d27e697f03ae47e	TC was secondary to @DISEASE$, dermatomyositis (1?adult and 1?child) and systemic @PHENOTYPICFEATURE$ lupus and involved multiple sites in all cases.	false
+c0434c16fb9eb4dab1ac39aa523743305b2566e3	Mutations in SIMPLE cause an autosomal dominant, demyelinating form of @PHENOTYPICFEATURE$ termed @DISEASE$ (CMT1C), but the pathogenic mechanisms of these mutations remain unknown.	false
+bd20a1f1e41341f0767b1722af77d1d6eb41877e	Missense mutations affecting the LITAF gene (also known as SIMPLE) lead to the dominantly inherited @PHENOTYPICFEATURE$ @DISEASE$ (CMT1C).	false
+194991b10c9bbf94b1d2f22f42d69f80fca74d75	Mutations in Lipopolysaccharide-induced tumour necrosis factor-? factor (LITAF) cause the autosomal dominant inherited @PHENOTYPICFEATURE$, @DISEASE$ (CMT1C).	false
+91ab5b5aaf87cccde01c4c95df186a28bce9ca95	We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and @PHENOTYPICFEATURE$ reminiscent of @DISEASE$, a suspected ciliopathy.	false
+69194d6837d34e24026e0c72189e722b6623a3ea	These cases appear to represent a new lethal lissencephaly syndrome associated with arthrogryposis and @PHENOTYPICFEATURE$, which we propose to call the Winter-@DISEASE$.	false
+6d94005cb717ba5b12ba1eebfbe435392a7b55f7	Patients develop @DISEASE$, arrhythmias, conduction abnormalities, and @PHENOTYPICFEATURE$.	false
+c769933089304ac699b5d0ef6bbe44c9a32e02bb	@PHENOTYPICFEATURE$ and symmetric @DISEASE$ with multiple mutations of genes encoding the sarcomere proteins.	false
+c95fc4e0bbce47422e0597f100f3a6ab32cb247c	The incidence and cause of @PHENOTYPICFEATURE$ (SCD) in athletes is debated with @DISEASE$ often reported as the most common cause.	false
+c0c7f94eb0df5b10fbb9f17c33b454636caadcbc	She had multiple lentigines, cardiac anomalies (apical @DISEASE$, left ventricular hypertrophy and pulmonary stenosis), @PHENOTYPICFEATURE$ and abnormal electrocardiographic findings.	false
+33e4b4fafc4c0c723deb8af2aeee9cb52aaa7c99	She had multiple lentigines, @PHENOTYPICFEATURE$ (apical @DISEASE$, left ventricular hypertrophy and pulmonary stenosis), ocular hypertelorism and abnormal electrocardiographic findings.	false
+6ceacd4b7d96d22fb43cae11af13abc35fb6133b	The patient was affected by @PHENOTYPICFEATURE$ type A1 and @DISEASE$.	false
+e27444116e5a534d4790f84ffc5e7c0c91d1b4b9	@PHENOTYPICFEATURE$ is associated with nonsustained ventricular tachycardia in patients with @DISEASE$.	false
+89094a8d35ade414d17353b5c5853ab3a4ea0489	Costello syndrome is characterized by severe failure-to-thrive, short stature, @PHENOTYPICFEATURE$ (heart defects, tachyarrhythmia, and @DISEASE$ (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+9f9452403cb41604a551d6f1ccadb51ad9d4479a	Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (@PHENOTYPICFEATURE$, tachyarrhythmia, and @DISEASE$ (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities.	false
+a1b06a89b809f2ab09e71765d9a2b2def9e0b20d	Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and @DISEASE$ (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar @PHENOTYPICFEATURE$ resulting in Chiari 1 malformation, and cognitive disabilities.	false
+b60fc85cd9720ee7d389706d4bd98f87dd36b019	Here, we report on a 46,XY female who presented with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+606e7ddd2f7781e950364088047a17b74fe18ff2	Physical examination revealed facial dysmorphism, mild @DISEASE$, limitation of supination at the elbows, @PHENOTYPICFEATURE$ and moderate mental retardation.	false
+91c9891e95bce0a13d92ddc73e624f542f223811	They must also have at least one diagnosed structural or functional @PHENOTYPICFEATURE$, e.g., @DISEASE$ or impaired executive function.	false
+32f1d78f24daa7342f6695c058b5a62926c0e4cb	The most prominent dysmorphic features were @DISEASE$, facial and @PHENOTYPICFEATURE$, and small hands and feet.	false
+9a880e62758716402b95a0fdc8c97379091d48d8	All three probands had lobulated tongues with tongue hamartomas, @PHENOTYPICFEATURE$ tip, developmental delay and @DISEASE$, with just one proband demonstrating polydactlyly.	false
+9e4c4946266bdc2be9ec91251ba11cc92d877f62	may contribute to @DISEASE$, cardiovascular disease, and @PHENOTYPICFEATURE$, respectively.	false
+f9a4770e98e19e5a99e2989d624a5c2bf9891884	The phenotype includes @PHENOTYPICFEATURE$, @DISEASE$, seizures, and failure to thrive.	false
+c97a08822d35b389cd5d24d66efd4ece0c91b69b	Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, @PHENOTYPICFEATURE$, short stature, @DISEASE$, hypoplastic genitalia, and mental retardation.	false
+942fc5ecc3c58b9f4d49429af9dfac9c9148487a	Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, @DISEASE$, polydactyly, and bilateral @PHENOTYPICFEATURE$.	false
+1d67c0503119e04d3bea2b702f683612889165d7	Termination at 23 weeks of gestation resulted in a male foetus with an occipital encephalocele, @DISEASE$, @PHENOTYPICFEATURE$, and bilateral polycystic kidneys.	false
+a0492c1c162f4e548d26cebfb10333567c23670e	It is presented the examination of a child of 6 months old with @DISEASE$, delay in the psychomotor development, cerebral calcifications @PHENOTYPICFEATURE$, sequellae of the chronic congenital Toxoplasma.	false
+5dfcb4d889394e0477d9ab350ec4f6b24f3d5cb8	@DISEASE$ (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and @PHENOTYPICFEATURE$.	false
+3ea79ebdac252b92c069ac4936c5db140bd06c5f	In particular, deletion of the human glypican-3 gene is responsible for @DISEASE$, and its associated pre- and postnatal tissue overgrowth, increased risk of embryonal tumors during early childhood, and numerous visceral and @PHENOTYPICFEATURE$.	false
+3dc8d40f3c9508913aa5bc6a389a44a30f8b2876	Furthermore, our finding of a GPC3 normal daughter of an @DISEASE$ carrier with @PHENOTYPICFEATURE$ and Wilms tumour raises the possibility of a trans effect from the maternal carrier in SGBS kindreds.	false
+54e21723afe8a9faa781f0f828b3297e716f983e	@DISEASE$ (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and @PHENOTYPICFEATURE$.	false
+6c90aad68233cbb4b89794ee8c5811c06e7c3e56	Mice carrying mutant alleles of Gpc3 created by either targeted gene disruption or gene trapping display a wide range of phenotypes associated with @DISEASE$ including renal cystic dysplasia, ventral wall defects, and @PHENOTYPICFEATURE$ that are consistent with the pattern of Gpc3 expression in the mouse embryo.	false
+a43189f514dac7bbac32c6d10d64b3131f7fa81e	@DISEASE$ (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and @PHENOTYPICFEATURE$ as well as an increased risk of embryonal cancers.	false
+035af1c7edbf02cfdbe7a73fed1c1d21273a0861	@DISEASE$ (SGBS) is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and @PHENOTYPICFEATURE$.	false
+bc2cfdc014d8b305c8f57f5c566d7b99191bd6c0	@DISEASE$ (SGBS) is an X-linked overgrowth syndrome with associated visceral and @PHENOTYPICFEATURE$.	false
+bc2cfdc014d8b305c8f57f5c566d7b99191bd6c0	@DISEASE$ (SGBS) is an X-linked overgrowth syndrome with associated visceral and @PHENOTYPICFEATURE$.	false
+234734c55961a2d1e080c7c2e18a03b31f42bc1d	Pediatric @PHENOTYPICFEATURE$ in @DISEASE$.	false
+a6b0bd2292f789abad090fc76063b9f237ec7a8d	Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with @PHENOTYPICFEATURE$; they were therefore identified as having autosomal dominant hypocalcemia type 2. All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that @DISEASE$-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2-associated mutations increased cell sensitivity.	false
+940a73c80af73a7c37e7e6eb12d1c9dfd3465439	However, in one family, the causative gene for FHH is located on 19p13, referred to as @DISEASE$, and in another family it is located on 19q13, referred to as FHH type 3. Gain-of-function CaSR mutations have been shown to result in autosomal dominant @PHENOTYPICFEATURE$ with hypercalciuria (ADHH) and Bartter's syndrome type V. CaSR auto-antibodies have been found in FHH patients who did not have loss-of-function CaSR mutations, and in patients with an acquired form (i.e.	false
+fcb8fd009a7f3a41be59b9c4a638cc336ae79744	Bisphosphonates are also used for other diseases involving bone remodeling, such as juvenile @DISEASE$ or familial @PHENOTYPICFEATURE$.	false
+517193a87e265457cf911336aa5b490f38ac5996	[Uncommon form of @DISEASE$ with hypercalciuria, @PHENOTYPICFEATURE$ and mental retardation].	false
+6a6d0074fd050fb58c4bf3f8a85e6c18d5f329ef	@DISEASE$ (HH) are rare, benign congenital @PHENOTYPICFEATURE$ associated with intractable epilepsy.	false
+4cee5404cefd37bc055d9aad1b3bb02ecb38f95c	Prenatal MR imaging at 29 weeks' gestation showed @PHENOTYPICFEATURE$ and hemispheres, the molar tooth sign, and a @DISEASE$.	false
+a476e8f9eae24f601d6b23966bde218378e6ea0d	Gelastic seizures due to @DISEASE$: rapid resolution after endoscopic @PHENOTYPICFEATURE$ disconnection.	false
+8f298b13cf69bae1c77a6eb22888e8ff8d850bfb	We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, @PHENOTYPICFEATURE$, @DISEASE$ and classical facial findings of OFDS.	false
+fb3e9a1a4cb286262e9b8a21de14901c3fe993a0	@DISEASE$, @PHENOTYPICFEATURE$, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?	false
+3549644764466aa981ebf734b2ed43d0124417ba	@DISEASE$: Correlation of MR imaging and spectroscopic findings with @PHENOTYPICFEATURE$ glial content.	false
+2e91bd990f77e30980180b0318fc06825d726708	@DISEASE$ are rare @PHENOTYPICFEATURE$ of particular interest because of their unusual symptoms.	false
+da9c80500e378ae8ee1c10a0e3841d2402ac43c7	We noted that the features of PIV overlap with the VATER association and Pallister-Hall syndrome (PHS, OMIM 146510), which includes polydactyly, (central or postaxial), shortened fingers, hypoplastic nails, @PHENOTYPICFEATURE$, imperforate anus, and @DISEASE$.	false
+c91250c89af5a23865497e8a6c919ee905fd3524	Giant @DISEASE$: an unusual neonatal @PHENOTYPICFEATURE$.	false
+3116ff6fa01bd713a3fb1a7b3608e2a0b75ad6be	@DISEASE$ (HH) are @PHENOTYPICFEATURE$ frequently associated with precocious puberty in humans.	false
+078177caa36f9b3a37bc3b92096b1280d339edd7	@DISEASE$ represents a @PHENOTYPICFEATURE$ group of disorders with variable etiologies that result in differences in presentation, management and outcome.	false
+c9860e26d61abfa1ecc0b13c14b15bf9966bca83	Enterohemorrhagic Escherichia coli (EHEC) is a major foodborne pathogen capable of causing diarrhea and @PHENOTYPICFEATURE$, but more serious complications such as hemorrhagic colitis and @DISEASE$ (HUS) can result.	false
+0273899711afe48b9af3d1aec27afd390d5f7ab6	Enterohemorrhagic Escherichia coli (EHEC) is a major foodborne pathogen capable of causing diarrhea and @PHENOTYPICFEATURE$, but more serious complications such as hemorrhagic colitis and hemolytic-uremic syndrome (@DISEASE$) can result.	false
+103ecf3d56212c919f58e23984fdda9ed9ab2e45	Clinical signs in the patients were @PHENOTYPICFEATURE$ (8.7%), nonbloody diarrhea (59.2%), bloody diarrhea (14.3%), and hemolytic-uremic syndrome (HUS) (3.5%), and 14.3% of the patients had no signs of gastrointestinal disease or @DISEASE$.	false
+a141c2b4071851c2ec8043bca98b8be8589f2be3	Clinical signs in the patients were @PHENOTYPICFEATURE$ (8.7%), nonbloody diarrhea (59.2%), bloody diarrhea (14.3%), and @DISEASE$ (HUS) (3.5%), and 14.3% of the patients had no signs of gastrointestinal disease or HUS.	false
+df5569cb63590d2222709b3c84084eb4a1cb3cd1	Clinical signs in the patients were @PHENOTYPICFEATURE$ (8.7%), nonbloody diarrhea (59.2%), bloody diarrhea (14.3%), and hemolytic-uremic syndrome (@DISEASE$) (3.5%), and 14.3% of the patients had no signs of gastrointestinal disease or HUS.	false
+eff2a5bf6c3637bb6ebfb86906d5eed8220a84d9	In this article, the scientific rationale for therapeutic plasma exchange in primary and secondary glomerulonephritis, thrombotic thrombocytopenic purpura and @DISEASE$, myeloma cast @PHENOTYPICFEATURE$, and allograft rejection are reviewed.	false
+012e9217db71b3e07272ea52a87b6c6fcccdd655	Children with @DISEASE$ generally present with gastroenteritis complaints (e.g., @PHENOTYPICFEATURE$ or tenderness, nausea or vomiting, fever, anemia); affected adults may be asymptomatic.	false
+41e8b6ed015bdf07280bc969356ad593d0cecc8c	Children with @DISEASE$ generally present with gastroenteritis complaints (e.g., abdominal pain or tenderness, nausea or @PHENOTYPICFEATURE$, fever, anemia); affected adults may be asymptomatic.	false
+7d1006f68170e3f03aa9f51f87af45d916d61c59	Therapeutic plasma exchange (TPE) is a treatment modality used in a variety of disease states, some of which are characterized by renal involvement (i.e., primary and secondary rapidly progressive glomerulonephritis, myeloma @PHENOTYPICFEATURE$, thrombotic thrombocytopenic purpura, @DISEASE$).	false
+62a1573179569e06cfad6d5bfb7ba7b70b8efb5b	All three children and both parents had nonbloody diarrhea, @PHENOTYPICFEATURE$ and abdominal cramps, and one child developed @DISEASE$.	false
+38f5ba3733138d22bdbd231119ad2963c8f07761	Apart from Wegener granulomatosis, Goodpasture disease, and @PHENOTYPICFEATURE$, Henoch-Sch?nlein purpura and @DISEASE$ occasionally have both pulmonary and renal features.	false
+beb3f97154ecc8a55a62e9364215cb001a883efa	Nonfatal complications were 10 cases of septicemia, 4 interstitial @PHENOTYPICFEATURE$, 2 interstitial nephritis, 1 veno-occlusive disease (VOD), and 1 case of @DISEASE$.	false
+07df041482c68dfef9aa5d9a185449d7bc737cf9	Whereas gastrointestinal symptoms such as vomiting, diarrhea and @PHENOTYPICFEATURE$ are common in children suffering from the so-called post-diarrheal form (D+) of @DISEASE$ (HUS), more serious gastrointestinal complications are rare.	false
+3998014edb82b3bfac4815f75199a1e85cb2e51f	Whereas gastrointestinal symptoms such as vomiting, diarrhea and @PHENOTYPICFEATURE$ are common in children suffering from the so-called post-diarrheal form (D+) of hemolytic uremic syndrome (@DISEASE$), more serious gastrointestinal complications are rare.	false
+feba75e72be791500ebe7b94d5819d19714dc6f2	There was 1 unilateral frontal @PHENOTYPICFEATURE$ in the patient with the @DISEASE$ (an expected result).	false
+bbe66a5795e01ef961cf08b9493a199ec88879f2	During the procedure the operator (a radiologist in all cases) was able to predict the diagnosis in cases of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+1b81ad939d4c46b0413bdf74d97147f86f0f2091	The differential diagnosis includes neurilemmoma, solitary @DISEASE$, neurofibromatosis, neuro-muscular @PHENOTYPICFEATURE$, and benign myxoid tumours.	false
+3f793f361e654b813581bba0824fd6f473b199a9	Marginal excision was performed in 40 patients, excision with nerve grafting in 2 patients (with @DISEASE$) and carpal tunnel release in one patient with lipofibromatous @PHENOTYPICFEATURE$.	false
+18863b1e5e835548be33e21c7fb25b19e3d7daed	The consultants agreed that the differential diagnosis should focus on congenital masses, including an encephalocele, glioma, dermoid, @PHENOTYPICFEATURE$, hemangioma, rhabdomyosarcoma, @DISEASE$, and nasolacrimal duct cyst.	false
+2d579a79c6679e41393f415b487429bf63c016f8	Clinical features are caf?-au-lait macules, intertriginous freckling, dermal @DISEASE$, iris @PHENOTYPICFEATURE$ (Lisch nodules), and learning disability.	false
+88fdda7ba91329030d340d80b46c5d23518a8422	As neural polypoid lesion of the rectum, @DISEASE$, perineurioma, schwannoma, and mucosal Schwann cell @PHENOTYPICFEATURE$ were in the differential diagnosis.	false
+b2749001bdf935b4c283813b309b73362a965bfe	Three cases referred for treatment of clitoromegaly were in fact cases of pseudoclitoromegaly caused by a @PHENOTYPICFEATURE$, a @DISEASE$, and a hemangioma of the clitoral prepuce.	false
+5c534ab063556b452218f45495f1026a75a4100d	Midfacial myxomas should be differentiated from other benign and malignant tumors such as dermoid, @PHENOTYPICFEATURE$, @DISEASE$, nasolacrimal duct cyst, and sarcomas in particular embryonal rhabdomyosarcoma.	false
+08fb84dd382e270924e558a0f1eea728f8290931	Medallion-like dermal dendrocyte @PHENOTYPICFEATURE$: a case misdiagnosed as @DISEASE$.	false
+9b471d9c9c679ab16b7a4f5cb6a26596edf098e3	The Esteem totally implantable middle ear hearing device provides appreciable functional gain and improvement in @DISEASE$ to rehabilitate hearing in patients with a profound high-frequency @PHENOTYPICFEATURE$.	false
+f0af7c0123ed5af0663ecd5827c4480b8f31118b	In 169 stroke patients (75 males and 94 females) under 65 years of age admitted to our neurology department, we evaluated the following possible risk factors: arterial hypertension, diabetes, cardiac disease, @PHENOTYPICFEATURE$, smoking, alcohol abuse, and cerebral @DISEASE$.	false
+5205f61bb533a23c755b132dd9b353912bd2ba2d	After respectively 5 and 17 years, these patients developed recurrent manifestations of @DISEASE$ with subacute, quite silent meningitis after pregnancy, with CSF increased cells count (180 lymphocytes/mm3), raised protein level (0.6 g/l) and positive antibodies for cysticercosis in the first case, and cortical granuloma with @PHENOTYPICFEATURE$ and repetitive seizures in the second.	false
+621dadc2d6a5699f15b7f88f2a0725a9009009b5	A review by systematic literature search was done using the MEDLINE?/Cochrane libraries from 1950 to date using the medical subject headings 'oncocytoma', 'adrenal gland', 'adrenal @DISEASE$', 'adrenal oncocytic neoplasm' and 'adrenal oncocytic @PHENOTYPICFEATURE$'.	false
+77a9558dd7c8c68d1bcb2b29baf5b30464f23191	A review by systematic literature search was done using the MEDLINE?/Cochrane libraries from 1950 to date using the medical subject headings 'oncocytoma', 'adrenal gland', 'adrenal oncocytoma', 'adrenal @DISEASE$' and 'adrenal oncocytic @PHENOTYPICFEATURE$'.	false
+3b5dd71ecd0c6dcbf8828d8a6cb5fc7f53d9856d	[Case of @DISEASE$ and muscular @PHENOTYPICFEATURE$ during anesthesia and surgery].	false
+292e89dcce94641f0ded85a55a75eb43a256db28	Dantrolene sodium is a drug used in the treatment of @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c5e8ba01196b8271ef30b2d4926138ac159dcba7	Neurologic complications identified included headache, encephalitis, polyneuropathy, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+517ad55ece0b8891f5963762eb11afd5cd94fe44	Besides, the possibility of developing @DISEASE$ and @PHENOTYPICFEATURE$ episodes is also present.	false
+8feb7d5c3b6df4f364f96ccc32d4a62cc8558740	CT of rhabdomyolysis associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+3722c38224af7eed67a141f7d9c29ee605538581	Special anaesthetic problems in patients with mitochondrial myopathies such as myocardial conduction disturbances, postoperative @PHENOTYPICFEATURE$, and possible increased susceptibility to @DISEASE$ can be overcome by the described anaesthetic management.	false
+c291c1ba2a2c58ed56738c7d34c66df5a21486d9	@PHENOTYPICFEATURE$ and @DISEASE$ due to morphine and neuroleptic.	false
+a78f005290e52ae04dd975cd7fd7266c6d1de4e8	Other assumptions are then discussed: infection, serotonin syndrome, @PHENOTYPICFEATURE$, catatonia, @DISEASE$.	false
+0756111408ece1e046e807f1052829906a92e0c1	Dantrolene is used in patients with @PHENOTYPICFEATURE$ and is the only known effective treatment for @DISEASE$.	false
+18b96cfca258b45c66563ca474ab6f4e6495c501	Pre-existing neuromuscular disease may also have specific anesthetic implications such as cardiorespiratory involvement (eg, @PHENOTYPICFEATURE$ dystrophica), the potential for drug interactions (eg, myasthenia gravis) or abnormal responses to commonly used drugs (eg, @DISEASE$).	false
+b66f4a84252c44b3f8f2695ef11c8a9c966ccfcd	Analysis showed that age, gender, cranial nerve deficit, motor deficit, preoperative Karnofsky Performance Score (KPS), midbrain involvement, and brain stem involvement had no effect on neither perioperative mortality nor long-term survival, while local invasion and pineocytoma pathology increased perioperative mortality and presence of @PHENOTYPICFEATURE$ and @DISEASE$ pathology significantly decreased long-term survival.	false
+830c259e7359a5ad8478cfdb872cf82e4734b60a	[A case of @DISEASE$ primary presenting a pineal hemorrhage causing obstructive @PHENOTYPICFEATURE$].	false
+207f7b6cddfa5687211427a7c5c770f97992ec23	We report a female fetus presented with a congenital @DISEASE$ at the 32nd week of gestation, with @PHENOTYPICFEATURE$ and concurrent parameningeal embryonal rhabdomyosarcoma in early infancy.	false
+64835b25b51969af438b4637d1ce9f245ec55c74	The pathologic diagnosis was amended after genomic profiling for 6 patients (19%), including a high-grade glioma to pilocytic astrocytoma, medulloblastoma to @DISEASE$, ependymoma to high-grade glioma, and @PHENOTYPICFEATURE$ to CNS high-grade neuroepithelial tumor with BCOR alteration.	false
+914372390f5075880624f74dc2a032cac550ea63	The pathologic diagnosis was amended after genomic profiling for 6 patients (19%), including a high-grade glioma to pilocytic astrocytoma, @PHENOTYPICFEATURE$ to @DISEASE$, ependymoma to high-grade glioma, and medulloblastoma to CNS high-grade neuroepithelial tumor with BCOR alteration.	false
+c3497f5dcb26592b04ab8c4f64338fffcf8a6f16	The partial protection against @PHENOTYPICFEATURE$, which @DISEASE$ deficiency conferred, suggests that acidosis in the central nervous system (CNS) of the Car-2n and MldCar-2n mice, due to absence of CAII from the choroid plexus, may downregulate the activity of NMDA receptors.(ABSTRACT	false
+cda42a2cf0272f8e69c2e3a1db28bbcd3fe97417	Carbonic anhydrase II (@DISEASE$) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and @PHENOTYPICFEATURE$.	false
+1a164ca248c23c399f00c6b8e9dd9d0e9c2809a6	In addition, the distal contig spans deletions from chromosomes of three patients exhibiting either complete androgen insensitivity (CAI) or a contiguous gene syndrome that includes @DISEASE$, impaired vision, and @PHENOTYPICFEATURE$.	false
+98b68995e43df986b1458d030e30543f59dfc672	In addition, the distal contig spans deletions from chromosomes of three patients exhibiting either complete androgen insensitivity (@DISEASE$) or a contiguous gene syndrome that includes CAI, impaired vision, and @PHENOTYPICFEATURE$.	false
+ccb6ce227150e347fa1a33413e8da5c8e5bcc8cb	We present data to suggest the existence of a @PHENOTYPICFEATURE$ (MR) locus at Xq11.2-q12 between DXS1 and DXS905, identified in two subjects with @DISEASE$ (CAIS) and MR.	false
+add9883f0e75f78fca4c329314ca4bc0b0a3c19d	Mocha (mh), a mouse model for Hermansky-Pudlak syndrome (@DISEASE$), is characterized by platelet storage pool deficiency, pigment dilution, and @PHENOTYPICFEATURE$ as well as neurological abnormalities.	false
+2598fa910ed9c3a57a00a98ee3c839b3e9bfdeef	A comparison of the STH level in the blood and the degree of obesity of the @DISEASE$ patients showed a clear decrease of the growth hormone in Stage IV @PHENOTYPICFEATURE$.	false
+19b8584f6bda7824a5c8bdef65cae034251e896b	A comparison of the STH level in the blood and the degree of @PHENOTYPICFEATURE$ of the @DISEASE$ patients showed a clear decrease of the growth hormone in Stage IV obesity.	false
+0908a655a1a5625f1085e93b44f6a617021a6f0c	Although these findings need to be confirmed, the @DISEASE$ is ready to be used in studies of interventions for @PHENOTYPICFEATURE$.	false
+abeaec805d344dd1f2bd6cb9f2273b0a25dc3d55	The overall incidence of @PHENOTYPICFEATURE$ in the sibs of patients was 3. Most of the patients with @DISEASE$ have been born in June-August and December-January.	false
+4dc539799cfe5bc20e9ddc83f1e1e7c16ea7d9da	Taken together, we suggest that @DISEASE$ could be a therapeutic target for @PHENOTYPICFEATURE$-linked insulin resistance.	false
+f39da8793c83abc7ee15ff3fd2bb9e9833eb8843	We may conclude that the unconjugated hyperbilirubinaemia observed in some patients with @DISEASE$ is not associated with @PHENOTYPICFEATURE$ of bacteria, changes in glucuronidase levels, pH, electrolytes or biliary obstruction.	false
+9275cc12c53ff1230be1fb74a4a93cd0b9998654	Pediatric patients with @DISEASE$ (HLH) may develop refractory respiratory or @PHENOTYPICFEATURE$ that warrants consideration for extracorporeal membrane oxygenation (ECMO) support.	false
+7fa3d8d7b578f1c7b1a778d47c6790690d46b291	@DISEASE$ would help to combat the global burden of childhood @PHENOTYPICFEATURE$ by promoting healthy eating behaviours and encouraging higher levels of physical activity.	false
+c014212e6cddbf4c0277e9c2dc3ed8bd7e022e11	Persistent fever, severe thrombocytopenia, @PHENOTYPICFEATURE$, and prolonged APTT on admission will be useful and practical predictors to determine high-risk @DISEASE$ patients.	false
+24ff5eff8724d207eeedc680ae9ac7c170c2c568	However, the role of @DISEASE$ in the development of insulin resistance in skeletal muscle under @PHENOTYPICFEATURE$ remains unclear.	false
+518e1703196c42570eb2ab69d621e6cf878884b5	Two groups of child dystonic syndromes can be distinguished: 1) dystonic syndromes where dystonia is the main neurologic abnormality; they result mainly from toxic and anoxic disorders and from @DISEASE$) dystonic syndromes with associated dystonia and @PHENOTYPICFEATURE$; they are often familial neurometabolic disorders.	false
+1e7dc1454e543d631f476e4cb1a024f0baf36f06	The Bazex syndrome: follicular atrophoderma with @DISEASE$, hypotrichosis and @PHENOTYPICFEATURE$.	false
+4687e1e82b70bfb785d253fb95d43ac4e3d1162b	The Bazex syndrome: follicular atrophoderma with @DISEASE$, @PHENOTYPICFEATURE$ and hypohidrosis.	false
+dbc4bec269d5a75ea4eb1932b33b4c0ca17fc5ef	@DISEASE$ (BCCs), odontogenic keratocysts, skeletal abnormalities, @PHENOTYPICFEATURE$, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features.	false
+f0f2a8e49146fe205353140aa986cba18cc05e8a	Both have typical features of @DISEASE$ plus additional findings, including mental retardation, conductive hearing loss, and @PHENOTYPICFEATURE$.	false
+73eea42a6b811bb3342992a87ded15a02fad260c	Bazex-Dupr?-Christol syndrome (BDCS) [OMIM 301845] is an X-linked dominant disorder of the hair follicle characterized by @DISEASE$, follicular atrophoderma, congenital @PHENOTYPICFEATURE$, and hypohidrosis.	false
+95e40ebc1bc1a81fcd6ece73aa68fd8fc1e8c99e	Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, @DISEASE$, @PHENOTYPICFEATURE$, milia, and localised hypohidrosis.	false
+dddddc91175d10d465729184230c11b2d5fe69be	Deletions or loss-of-function mutations of PTCH1 result in basal cell nevus syndrome (@DISEASE$), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7. We propose that patients with @PHENOTYPICFEATURE$ or holoprosencephaly of unknown origin should also be screened for PTCH1 duplication.	false
+3624a1aee2bec02580ae97ad70f913e729310be1	Deletions or loss-of-function mutations of PTCH1 result in @DISEASE$ (Gorlin syndrome), whereas gain-of-function mutations were proposed to lead to holoprosencephaly 7. We propose that patients with @PHENOTYPICFEATURE$ or holoprosencephaly of unknown origin should also be screened for PTCH1 duplication.	false
+99b15295429f71ad6c66113ace19b9103dc49f70	Some of the main symptoms of NBCCS are @DISEASE$, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, @PHENOTYPICFEATURE$ of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity.	false
+3b5b35127d48fcfb35a14f2a51345c6746e71407	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, @PHENOTYPICFEATURE$, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies).	false
+4f89900760a869462666e5a3236127bdabec2e16	Though the @DISEASE$ and WC were associated with numerous @PHENOTYPICFEATURE$, only SAD correlated with dyslipidemia (TG and HDL-c) and hyperglycemia (glycemia).	false
+b67823e3f71055f4c7a46969c3427c490bf3c9f5	Though the SAD and WC were associated with numerous @PHENOTYPICFEATURE$, only @DISEASE$ correlated with dyslipidemia (TG and HDL-c) and hyperglycemia (glycemia).	false
+6e3c75be2343656d5f6cfd3c6bec4cbf5ef20e26	Chronobiological disorders and syndromes include seasonal affective disorder (@DISEASE$), total @PHENOTYPICFEATURE$, advanced and delayed sleep phase syndrome, jet lag, and shift work maladaptation.	false
+a0ffde7297c7d0bc2cf546505f79ff0c4a035f0e	In sinoaortic-denervated (@DISEASE$) rats, @PHENOTYPICFEATURE$ were induced by aconitine infusion between 09.00 and 13.00 h. 3.	false
+c90e96a9e4f20a44c8dc97ede1b0797c0afd7f14	The aim of the study is to determine the prevalence of @DISEASE$ in persons with severe visual impairments or @PHENOTYPICFEATURE$ and to compare the results to a control group without visual impairments.	false
+3dbf14d0e3eaf52572a0d210b549a68d50b22fc4	Eccrine angiomatous @PHENOTYPICFEATURE$ in a @DISEASE$ patient.	false
+e1809701ac7c9f40199612987e0873a53936350b	Retinal glioneuronal @PHENOTYPICFEATURE$ in @DISEASE$.	false
+4349a371582cecb6bf84147f25db1f3bf61cc19d	Endobronchial @PHENOTYPICFEATURE$ in a case with @DISEASE$.	false
+f5bc3d2f9e3313de3dfb83938d2aab4f8ffe6fce	@PHENOTYPICFEATURE$ involving the pseudarthrosis site in patients with @DISEASE$.	false
+bc3a887138b65b16dbec418badd4406e7b191793	@PHENOTYPICFEATURE$ compress medial and radial nerve in @DISEASE$.	false
+863f8989b3b9781ff1aebe724288eb42cb55d128	[Partial @PHENOTYPICFEATURE$ and periostosis in @DISEASE$ and dermatolysis].	false
+82918486cc6e2691125ebc318e3324af21bcf032	Intrathoracic meningocele and @PHENOTYPICFEATURE$ in a case of @DISEASE$.	false
+c819235b4014cbac0d702f22c4e17a03f72f752b	Folliculosebaceous cystic @PHENOTYPICFEATURE$ in a patient with @DISEASE$ type I.	false
+034ecb3aec25f30fc549f36fe262cf10b64943d1	Common musculoskeletal impairments associated with @DISEASE$ (NF 1) include cervical pain, muscle weakness, @PHENOTYPICFEATURE$, headaches, and postural deviations.	false
+fdb5559436620b04a9b480d615bdd6a2b7e8c91d	Four patients had @DISEASE$. Physical findings at diagnosis were palpable mass (10 of 13), scoliosis (2 of 13), @PHENOTYPICFEATURE$/cranial nerve palsy (2 of 13), and stigmas of neurofibromatosis type 1.	false
+1783283c7fc3f8fecaf8f5097a6c14d0bfe04e86	Four patients had neurofibromatosis type 1. Physical findings at diagnosis were palpable mass (10 of 13), scoliosis (2 of 13), @PHENOTYPICFEATURE$/cranial nerve palsy (2 of 13), and stigmas of @DISEASE$.	false
+94dc57650276c30a078a4584edafb0ee880f208a	@DISEASE$ is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and @PHENOTYPICFEATURE$.	false
+87f21baa240141cdaa55c754e78606b1aed8333f	@DISEASE$ (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of @PHENOTYPICFEATURE$, facial palsy, ophthalmoplegia, and mental retardation.	false
+8f2cc33258d325e20c008b0bb1f38c1bef308ff5	We report on the simultaneous familial occurrence of both erythrokeratodermia variabilis and @PHENOTYPICFEATURE$ of the @DISEASE$ type (Greither) illustrated with reference to three cases.	false
+9d5d3f44eb34449359271a867f7c3b7d10c73d40	Parry-Romberg syndrome is a very rare entity causing @DISEASE$ that could also be associated with linear @PHENOTYPICFEATURE$.	false
+710a0d80697b7b6baa9f2b3e82730444a1b7e112	@DISEASE$ is a very rare entity causing progressive hemifacial atrophy that could also be associated with linear @PHENOTYPICFEATURE$.	false
+9e691bc0f8d5f34cd3e05f01c0fbdac59e1f0a74	All patients had craniofacial @PHENOTYPICFEATURE$: linear scleroderma en coup de sabre (LScs), @DISEASE$ (PFH, or Parry-Romberg syndrome) or both.	false
+5cd2db8a794a319fee74c8ebb76caef134f58296	All patients had craniofacial scleroderma: linear @PHENOTYPICFEATURE$ en coup de sabre (LScs), @DISEASE$ (PFH, or Parry-Romberg syndrome) or both.	false
+df955592a0a2ef621c7b9272e36eb761e046a8d4	All patients had craniofacial scleroderma: linear @PHENOTYPICFEATURE$ en coup de sabre (LScs), progressive facial hemiatrophy (PFH, or @DISEASE$) or both.	false
+aa5447158139c02e9dcf35a1bf89a26256512889	All patients had craniofacial @PHENOTYPICFEATURE$: linear scleroderma en coup de sabre (LScs), progressive facial hemiatrophy (PFH, or @DISEASE$) or both.	false
+cb4914cae3cb204d262cb2857ac0662c9f7a3ced	[@DISEASE$, homolateral cervical linear @PHENOTYPICFEATURE$ and thyroid disease].	false
+4b8ca3d6c055a5d9f20a00f5222a54ed683339de	It is suggested that it is often difficult, if not impossible, to distinguish between Romberg's disease and @DISEASE$ from @PHENOTYPICFEATURE$; therefore, these terms might best be eliminated in classifying hemifacial atrophy.	false
+80307fad514461957d792fe2204d573e0431968a	It is suggested that it is often difficult, if not impossible, to distinguish between Romberg's disease and hemifacial atrophy from @PHENOTYPICFEATURE$; therefore, these terms might best be eliminated in classifying @DISEASE$.	false
+51dc5a9ddfc8e77bb5c50a584ceb6d5bf6f1691d	CNS imaging findings associated with @DISEASE$ and en coup de sabre: correlation to dermatologic and @PHENOTYPICFEATURE$.	false
+96b5fe37246d2c8e7483379f6a6967a94ce62857	Among all different types of cutaneous scleroderma, @DISEASE$ and linear @PHENOTYPICFEATURE$ ?en coup de sabre? typically involve the visage.	false
+ae6384bef9e0c544cca7741997dfbf24396a3576	Among all different types of cutaneous @PHENOTYPICFEATURE$, @DISEASE$ and linear scleroderma ?en coup de sabre? typically involve the visage.	false
+635b843131b95cab23764c38039db235f3b038c3	A case of @DISEASE$ associated with linear @PHENOTYPICFEATURE$ and homolateral masseter spasm.	false
+a03d2ce07bec735b2a9c7a1d4d726a2fb843bbcf	It is characterized by @DISEASE$, and @PHENOTYPICFEATURE$ are found in 20% of cases.	false
+03533856ee95fcad79137a198800b0f2a27ac7f9	Morphea and @DISEASE$ associated with a mixed @PHENOTYPICFEATURE$.	false
+2deddba67558aff47bbbb6a14712599f9d97668d	Linear @PHENOTYPICFEATURE$ and @DISEASE$ (PRS) are chronic diseases that can affect the face, with patients therefore requiring facial volumetric correction.	false
+9525ba04afd4e621a9802d08b1e3a00ef873235f	In children, high urine dopamine was found in cases of neuroblastoma, Costello syndrome, @PHENOTYPICFEATURE$, @DISEASE$, Menkes disease and rhabdomyosarcoma of the bladder.	false
+124e65bf0b0e21b4736104c1a0d27bd713e7642a	Sequential changes in @PHENOTYPICFEATURE$ size, number of DNA synthesizing cells (labelling index [LI]), glucose utilization (LCGU), protein synthesis (@DISEASE$), and peripheral benzodiazepine receptor (PBR) density were examined after chemotherapy for seven days.	false
+39cbef2d7d5069fec5c66c1a28d1b79c13c03e72	@DISEASE$ IIIB and mild @PHENOTYPICFEATURE$: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.	false
+b2cadb25676b8df818f88a242fe0532b631c9442	We describe here a girl with the classic phenotype of @DISEASE$-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained @PHENOTYPICFEATURE$ and hyperactivity and prevent unnecessary investigations.	false
+16cb184a78da10516c3e17ca986806f22723ee48	Hunter's syndrome [@DISEASE$ II (MPS II)] is a genetic, metabolic disease of excessive mucopolysaccharide storage leading to mental and @PHENOTYPICFEATURE$, distinctive facial features, and increased incidence of hearing loss.	false
+dfb852e6f6184715c1f69560187417597d34871e	@DISEASE$ (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-@PHENOTYPICFEATURE$ requiring multiple surgical interventions.	false
+c7f696c7c8638533a039806a6f350cacd5d2f624	The classical feature of paraneoplastic neuropathy is subacute sensory neuronopathy; in addition, sensorimotor neuropathies, such as Guillain-Barr? syndrome, @DISEASE$, brachial plexopathy, and @PHENOTYPICFEATURE$ neuropathy, are sometimes observed.	false
+2349bcf2b510018db2f17844e3865e49e1df7eeb	Paraneoplastic brainstem encephalomyelitis and atypical form of @DISEASE$ in patient with testicular germinal @PHENOTYPICFEATURE$-is this an overlap syndrome?	false
+0ca10955bed7b17f0f8297f520e8c228aa784eec	To investigate the utilization of T-cell receptor (TCR) variable (V) regions in infiltrates of sural nerve biopsies of patients with @DISEASE$ (CIDP) and @PHENOTYPICFEATURE$ neuropathy.	false
+f54d986566be91265e83350df7d782aed1edda3e	To investigate the intra- and extracellular levels of various cytokines and chemokines in CSF in @DISEASE$ (CIDP) and @PHENOTYPICFEATURE$ neuropathy (VN), 16 cytokines, IL-1beta, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12 (p70), IL-13, IL-17, IFN-gamma, TNF-alpha, G-CSF, MCP-1 and MIP-1beta, were measured in CSF supernatant by a multiplexed fluorescent bead-based immunoassay and intracellular production of IFN-gamma and IL-4 in CSF CD4+ T cells were simultaneously measured by flow cytometry in 14 patients with CIDP, 8 patients with VN and 25 patients with other noninflammatory neurologic diseases (OND).	false
+84cd45b5a7db75aa0cca006e6c7fe2d8139369c7	Other forms of HIV-related peripheral neuropathies are discussed briefly, and include acute and @DISEASE$, autonomic neuropathy, polyradiculopathy, mononeuropathies, mononeuritis multiplex, cranial neuropathies, and @PHENOTYPICFEATURE$-like motor neuropathy.	false
+1cadeee883aab3910d598fac8d121ac656b5fbd3	@PHENOTYPICFEATURE$ neuropathy and @DISEASE$ (CIDP) are neuropathies characterized by a T-lymphocyte infiltrate in the peripheral nerves.	false
+e628469804c7382a7fe5265108eeb95ea8cd0b2e	This assay was applied to human CSF samples from 14 normal subjects, 26 patients with multiple sclerosis (MS), 17 with Guillain-Barr? syndrome (GBS) or @DISEASE$ (CIDP), and 22 with @PHENOTYPICFEATURE$ of the central nervous system (CNS) or leucaemic meningosis (LM).	false
+52dad9b2cab97809e9a3e9ac63aeebcc394d9d4c	@DISEASE$ (CIDP) is an acquired demyelinating disease of the peripheral nervous system characterized by @PHENOTYPICFEATURE$, areflexia or hyporeflexia, and sensory disturbances.	false
+5388d378d4cbf1ec9416f466c0c77a875c08afd5	Neurogenic @PHENOTYPICFEATURE$ of the orbit in a patient with idiopathic @DISEASE$.	false
+dc2da53d450d86790825678599db3d99b0d877d1	The pathology includes primary and secondary tumors (the most frequent secondary tumors being superior sulcus @PHENOTYPICFEATURE$ and metastatic breast carcinoma), radiation plexopathy, trauma, thoracic outlet syndrome, neuralgic amyotrophy, @DISEASE$ (CIDP), and multifocal motor neuropathy (MMN).	false
+5737e6761c737859ba006f60dc992570817afa3c	A range of skeletal abnormalities are evident in @DISEASE$ (MPS VI, Maroteaux-Lamy syndrome) including @PHENOTYPICFEATURE$ and dysostosis multiplex, resulting from a deficiency in the lysosomal hydrolase N-acetylgalactosamine-4-sulphatase (4S).	false
+dc0b953006c96d96bd4c9331eb5267e24be1d161	A range of skeletal abnormalities are evident in mucopolysaccharidosis type VI (@DISEASE$) including @PHENOTYPICFEATURE$ and dysostosis multiplex, resulting from a deficiency in the lysosomal hydrolase N-acetylgalactosamine-4-sulphatase (4S).	false
+048a8b86adc36e26f2796e96b46451d533a5f953	Two long-haired Siamese cats are reported with clinical manifestations of human mucopolysaccharidosis VI (@DISEASE$): @PHENOTYPICFEATURE$, dysostosis multiplex, paralysis.	false
+8d0705b1ace077b38fe2c32af5713a3f06574aa2	Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, @DISEASE$, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and @PHENOTYPICFEATURE$; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.	false
+a47de87b14e6853b9f49fe181eeaeede7590eac2	Feline and human mucopolysaccharidosis VI (MPS VI or @DISEASE$) are inherited autosomal recessive deficiencies of lysosomal enzyme arylsulphatase B. Affected cats and children exhibit lesions caused by incompetent degradation, retinal atrophy and excessive urinary excretion of dermatan @PHENOTYPICFEATURE$, corneal stromal opacities, leukocyte granulation, retinal atrophy and excessive urinary excretion of dermatan sulphate--and usually die before adulthood.	false
+fb6e0e092d1601d986c869683966b810a00e13be	Patients with @DISEASE$ or Hunter syndrome showed improvements in hepatomegaly, joint contractures, @PHENOTYPICFEATURE$ and tight skin, and this greatly increased their quality of life.	false
+40a46490f2f1a736f7dccf3b8c5504d84566e618	@DISEASE$ or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include @PHENOTYPICFEATURE$, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal.	false
+98b00636ded67aed4a1832512e4b16025551b91e	Mucopolysaccharidosis type VI or @DISEASE$ is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and @PHENOTYPICFEATURE$, with intelligence usually normal.	false
+189c8e073ad75f8b0c26fa92301cdea27c42694e	@DISEASE$ or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and @PHENOTYPICFEATURE$, with intelligence usually normal.	false
+0f1220155441280cdb1c6b154a75ae10b858cbb4	Mucopolysaccharidosis type VI or @DISEASE$ is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include @PHENOTYPICFEATURE$, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal.	false
+b35e11e09fd70a260da641160e17e8db0778dbb0	We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventricular septal defect, @PHENOTYPICFEATURE$, bilateral cutaneous syndactyly of fingers and toes, unilateral @DISEASE$ and multiple caf?-au-lait spots.	false
+1ec56a52954b036f9df2a607ecc6a8bfde18ba9f	We have observed 3 patients in a 12-month period with hydrocephalus due to aqueductal stenosis, in addition to @PHENOTYPICFEATURE$ (3/3), anal anomalies (3/3), cardiac anomalies (3/3), tracheoesophageal fistula (1/3), renal anomalies (3/3), limb anomalies (3/3), single umbilical artery (2/3), hypospadias (1/3), and @DISEASE$ (1/2).	false
+d6f66f0b32b1535160c268c36d7d96011a5a97e7	The literature survey did provide criteria for classic Zellweger syndrome, which include hypotonia with or without deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, @DISEASE$ or labial hypoplasia, hepatomegaly or elevated liver enzymes, peripheral pigmentation of the retina, renal cortical cysts, and characteristic neuropathology involving decreased myelinization, @PHENOTYPICFEATURE$, and sudanophilic macrophages.	false
+b589c57ea441ad8b61542cd2b10c55a104382ba9	In addition, the boy presented with many phenotypic features associated with upd(14)mat along with @PHENOTYPICFEATURE$ to pain, previously unreported in this disorder, and bilateral @DISEASE$, also rarely described.	false
+7abb6aff043a5af364c5befac574725beea4fb83	A rare case of perineal @PHENOTYPICFEATURE$ associated with @DISEASE$ and imperforate anus: case report.	false
+67481ff2785df353498a47c5321f9dad49125a36	Other lesions, detected in five or less animals (less than approximately 0.05% of the animals examined), included @DISEASE$ and various @PHENOTYPICFEATURE$ (segmental aplasia of the epididymis, blind efferent ducts and epididymal cyst) and congenital scrotal hernia.	false
+cdb0315fe008cd79402b01f9ae08b23e7398aa8c	Other findings included inguinal hernia, hypothyroidism or persistent hyperthyrotropinemia, @DISEASE$, hip dysplasia, growth hormone deficiency, cloudy cornea with congenital glaucoma, neonatal teeth, cardiac defects, @PHENOTYPICFEATURE$ and seizure disorder.	false
+da67219620985e587a01bed22edfff016117d2a3	[@DISEASE$ (Schimmelpenning-Feuerstein-Mims syndrome) and early childhood @PHENOTYPICFEATURE$ development].	false
+3b37c2765ffdbde5f02a771a72ef7fcf4ccbf6ff	One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with @PHENOTYPICFEATURE$ and dysphonia (vocal cord and pharyngeal weakness with @DISEASE$ [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree.	false
+f3991dd79dfc985f788005a5a0916a1e654d0576	Adult CNM is a slowly progressive @DISEASE$ with normal CK levels sometimes associated with @PHENOTYPICFEATURE$, axonal polyneuropathy, and ophthalmoparesis and ptosis.	false
+a5c7c0ecbda3a8d4a7cf91a72237fe8804075216	The p.S85C MATR3 variant was previously associated to a different phenotype, namely a @DISEASE$ associated with @PHENOTYPICFEATURE$ and dysphonia.	false
+d7dd3306ab8a6e03676a2e123d035895d5674199	Patient survival years after renal transplantation has revealed systemic complications including @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9e643488740435cd985e3903843f54f8d4e60bef	Carpenter syndrome (@DISEASE$), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, @PHENOTYPICFEATURE$, cryptorchidism, obesity, umbilical hernia and bony abnormalities.	false
+dfce7b8eafb7b79e76037b399f6e95affbd60ffd	Non immune mediated diffuse alveolar hemorrhages are mainly due to @PHENOTYPICFEATURE$, severe dyscrasia and idiopathic @DISEASE$.	false
+9bee81a8bbdc5578004e6a388d89616658047f2a	Expansion of repeated sequences in non-coding regions of different genes causes a number of inherited diseases including myotonic dystrophies, @DISEASE$, Fragile X tremor/ataxia syndrome and spinocerebellar @PHENOTYPICFEATURE$ 8, 10, 12, 31.	false
+caa90c256bed8eb6bea4681c938f8b90ae70c2f5	@DISEASE$ (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by @PHENOTYPICFEATURE$, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism.	false
+d8ac2c5e20aebebd8b0b17ee9a2f2e5cbc2cf653	Rubinstein-Taybi syndrome (@DISEASE$) is a rare multiple congenital anomaly syndrome comprising mental and @PHENOTYPICFEATURE$, broad thumbs and great toes, and an unusual face.	false
+aa6c1400c94d1bef2f64e1ce3465c970993d5036	Rubinstein-Taybi syndrome (@DISEASE$) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental @PHENOTYPICFEATURE$ retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency.	false
+a304ca9f460b25919dab690fc63ff7e231d6b872	The @DISEASE$ (@PHENOTYPICFEATURE$, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome are caused by mutations in the RECQL4 gene.	false
+97ec004c712bc81e65cf1a84abaca7bcec457c46	However, a "stiff gait" is frequently described in RTS patients and, furthermore, @PHENOTYPICFEATURE$ is a frequent feature of @DISEASE$ patients.	false
+818d98194ce913712a0b47109b5d69f264ab1f76	However, a "stiff gait" is frequently described in @DISEASE$ patients and, furthermore, @PHENOTYPICFEATURE$ is a frequent feature of RTS patients.	false
+5f0da8e09a734b3084e916eb6bea0d3f4cb40c77	Multiple squamous cell carcinomas can be related to: xeroderma pigmentosum, Ferguson-Smith, Muir-Torre syndrome, Mibelli-type porokeratosis, keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome, @DISEASE$, Bloom syndrome, and epidermodysplasia verruciformis.	false
+07d7a086add4d3146c9f3b1d9ca78530130823d2	Rubinstein-Taybi syndrome (@DISEASE$) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, @PHENOTYPICFEATURE$, and a variable degree of cognitive impairment.	false
+10f1bbdaea5ab2b2e77ea6b0bfd7acf58fcb95b0	Since both Cbp and p300 are ubiquitously expressed in embryonic tissues including the developing heart, these results suggest that @PHENOTYPICFEATURE$ observed in @DISEASE$ patients may be caused by a dominant negative effect of mutant CBP.	false
+90fdc96dc98f6c1e35d81222a4be0fb61b52c422	@DISEASE$ (poikiloderma congenitale) associated with @PHENOTYPICFEATURE$.	false
+59f30e4ee67479a6027cd3d4a0792034524a5ffc	The Rubinstein-Taybi syndrome (@DISEASE$) is a well-defined complex of congenital malformations characterized by mental and @PHENOTYPICFEATURE$, broad thumbs, broad big toes, and typical face.	false
+324e0cdc8a0b58b0bb139416e1c1542e1c97c0a2	Collagen XVIII, containing an endogenous inhibitor of angiogenesis and @PHENOTYPICFEATURE$ growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (@DISEASE$).	false
+6336d3451b783a0f08bae3e94ed1d8b840bc580d	Keratosis pilaris, palmoplantar blistering, hyperhidrosis, leukokeratosis, alopecia, dental malformation, @PHENOTYPICFEATURE$ and @DISEASE$ were absent.	false
+effde6ada42702519fa9f04560685ca6532ee69c	Nasotracheal intubation for a patient with @DISEASE$ can be a challenge because of @PHENOTYPICFEATURE$ anatomy.	false
+4c5e6d9fa6e17404edadc68279883c41d27c5dc5	Absence of @DISEASE$ attenuates atherosclerosis but causes dry eye and cutaneous @PHENOTYPICFEATURE$ in mice with congenital hyperlipidemia.	false
+0fe344a3366d8b7d44908981ea4e9894c355f91a	@DISEASE$ (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-@PHENOTYPICFEATURE$, symmetrical syndactyly of hands and feet.	false
+d321e1c68e31435e1a9b71d956af9351ee3f8e18	This observation provides a potential explanation for why the limb phenotypes, observed in type I Pfeiffer and Muenke syndromes, are less severe than the @PHENOTYPICFEATURE$ observed in @DISEASE$.	false
+ea2fc5052da98f1b164e99cb0658bac31e80ee20	@DISEASE$ is a clinically distinctive condition characterized by craniosynostosis, mid-@PHENOTYPICFEATURE$, and severe symmetrical syndactyly of the hands and feet.	false
+60f7aaaef68f69c45a31220d930b6a6dc5ff5795	@DISEASE$ is characterized by craniosynostosis and @PHENOTYPICFEATURE$ and is primarily caused by FGFR2 +/P253R and +/S252W mutations.	false
+a1ee51ac92e4a9d2ac8697055cae221c62bd645f	@DISEASE$ (WS1; MIM 19350) is caused by a pleiotropic, autosomal dominant @PHENOTYPICFEATURE$ with variable penetrance and expressivity.	false
+733cb8454c20e5a7d91c99340d87adb459d99719	Fourteen patients (41%) treated with @DISEASE$ and regular insulin had 26 episodes of hypoglycemia and 5 patients (15%) in the glargine and glulisine group had 8 episodes of @PHENOTYPICFEATURE$ (P = 0.03).	false
+9e4a971460b90504d1fcc86db1bbf00ebe257040	Fourteen patients (41%) treated with @DISEASE$ and regular insulin had 26 episodes of @PHENOTYPICFEATURE$ and 5 patients (15%) in the glargine and glulisine group had 8 episodes of hypoglycemia (P = 0.03).	false
+aa2ba57019298340c3d13430de7d087c31f0044e	The rate of symptomatic nocturnal @PHENOTYPICFEATURE$, confirmed by plasma glucose ?3.9 or ?3.1?mmol/l, was 29 and 48% less with glargine than with @DISEASE$ insulin.	false
+e5e4117ecb6f90339513c883895603992766587d	Use of insulin glargine compared with @DISEASE$ is associated with less nocturnal @PHENOTYPICFEATURE$ and lower post-dinner glucose levels.	false
+a0f2b4bc13af1fa9405760901384fcc9b7e1cbbe	In addition, a reduced risk of @PHENOTYPICFEATURE$, particularly nocturnal hypoglycaemia, has been reported with insulin detemir compared with @DISEASE$ insulin in patients with type 1 and type 2 diabetes.	false
+ffa04969497adcca444c0da3475e589acbd66857	The insulin analogs, glargine and detemir, are associated with reduced @PHENOTYPICFEATURE$ incidence compared with @DISEASE$ insulin.	false
+ad90d5e14036f2c869e0b744568bf742c401253a	These data will alleviate the identification of further genes of a homozygous gene deletion syndrome in patients with @DISEASE$ and @PHENOTYPICFEATURE$ and will be instrumental in the characterization of the molecular mechanism leading to the large homozygous deletion in this region.	false
+31aebae7fda818eb80381873b2f0ad57c9c304b4	Most clinical trials in patients with type 1 or 2 diabetes mellitus demonstrated a lower incidence of hypoglycemia, especially nocturnal @PHENOTYPICFEATURE$, with insulin glargine compared with @DISEASE$ insulin.	false
+594221496e52daf618159b8005e92f5e71710754	Most clinical trials in patients with type 1 or 2 diabetes mellitus demonstrated a lower incidence of hypoglycaemia, especially nocturnal @PHENOTYPICFEATURE$, compared with @DISEASE$ insulin.	false
+c73281e7ab02bc6d43257943da6c14234bbb27a1	The evidence suggests that, compared with @DISEASE$ insulin, insulin glargine is effective in reducing the number of nocturnal @PHENOTYPICFEATURE$ episodes, especially when compared with once-daily NPH.	false
+2f1cb2537ee8c24b0953067c68958ed8e5322a7e	In several trials, the risk of hypoglycemia, particularly of nocturnal @PHENOTYPICFEATURE$, was significantly lower with insulin detemir than with @DISEASE$ insulin.	false
+63df94b1c05539fdf0cd5e8132826b5f61801ed4	People with @DISEASE$ display childhood seizures, hyperactivity, anxiety, developmental delay, attention deficits, and visual-spatial @PHENOTYPICFEATURE$, as well as a propensity for obsessive-compulsive disorder.	false
+f4a15e5fe6d24c9003cfd77af4b6c345aaa5008f	MBD5 haploinsufficiency is associated with @PHENOTYPICFEATURE$ and disrupts circadian pathways common to Smith-Magenis and @DISEASE$.	false
+e03287ed92fb5fad8374ce368a06a266b7481c2c	Histologically, a @PHENOTYPICFEATURE$ was found and the clinical work-up revealed @DISEASE$ (PJS).	false
+38b43cc4a5c380d8ff61b6dc8657552f1a73e81e	Histologically, a @PHENOTYPICFEATURE$ was found and the clinical work-up revealed Peutz-Jeghers syndrome (@DISEASE$).	false
+70033e16e29170d3f8619e23dda307409f58e8bc	@DISEASE$ with metastasizing carcinoma arising from a jejunal @PHENOTYPICFEATURE$.	false
+a0a04581624b6cc67db840f2a05924d34c68d4cc	The syndromes include juvenile polyposis syndrome, @DISEASE$, and the PTEN @PHENOTYPICFEATURE$ tumour syndrome.	false
+6ac398b90e1cd1d9b013340092450f0d04a4b5c3	We conclude that laparoscopy is a safe and effective method of managing intussusception in the @DISEASE$ because the pathologic lead point is a benign @PHENOTYPICFEATURE$.	false
+6ff11194d583344b0f67ffd6eac7a6ee95889fa7	The @DISEASE$ is a familial affection with dominant autosomic transmission characterized by a @PHENOTYPICFEATURE$ digestive polyposis and a cutaneous mucous lentiginosis with periorifice predominance.	false
+97de4b0dee57a3e1f5453ae34905781fe8fd7395	A giant colonic @PHENOTYPICFEATURE$ and multiple @DISEASE$ in a middle-aged man.	false
+40db14d6e125ff275224ec8f2971f9e99e55a2ad	There is an increasing evidence suggesting the @PHENOTYPICFEATURE$-adenoma-carcinoma sequence in @DISEASE$.	false
+5d6deb0f9effae0ac714afc8736d28de1147edcf	The specification of @DISEASE$, the malignant change of polyps and the misdiagnosis of @PHENOTYPICFEATURE$ are discussed in this paper.	false
+51dfc8d2c542121f8f102b9c26ef5bf589aa6a0e	We describe a case of a patient with @DISEASE$ presenting with symptomatic jejunal intussusception and an incidentally found malignant @PHENOTYPICFEATURE$ in the sigmoid colon.	false
+84c54a8c032154b59f7bfb1dc2d641ad1c756f26	We suggest that SCTAT not associated with @DISEASE$ is a form of granulosa cell tumor, and when associated with PJS is a form of @PHENOTYPICFEATURE$.	false
+d8bd37165cffec1f1aa560d368f1dac4d119ebac	We suggest that SCTAT not associated with PJS is a form of granulosa cell tumor, and when associated with @DISEASE$ is a form of @PHENOTYPICFEATURE$.	false
+4b3d430edd9e91ee91c7991b86dcac9ce75313c3	Seventy-five upper limbs were involved with 50 ulnar deficiencies, nine congenital transhumeral deficiencies, four congenital shoulder disarticulations, seven @PHENOTYPICFEATURE$, two radial head dislocations and one each - @DISEASE$ deficiency, syndactyly and capitate-lunate coalition.	false
+66d2cdaa0354975117516f366c3f521e14844102	Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, @PHENOTYPICFEATURE$, and @DISEASE$ limb defects.	false
+de7f99a1297a987cc218cb89423936fe57f7ed3f	Variable expressivity of congenital longitudinal @DISEASE$ deficiency and @PHENOTYPICFEATURE$ in monozygotic twins.	false
+7567df4c4f12b4dbaeb0126200758a3cf4bb64bb	To have a better understanding of teratogenic mechanisms of congenital absence of digits, ulnar and @DISEASE$ deficiencies, @PHENOTYPICFEATURE$, and symbrachydactyly were analyzed in clinical cases.	false
+6111a93f350a3dabc29156ed52f5284dd2c1ba97	Two successive lengthenings of the radius, each approximately 20 mm, were performed on a young girl presenting with @DISEASE$ @PHENOTYPICFEATURE$, progressively degenerating into a radial clubhand.	false
+c68707be0dbbdb5fc6203b56e191680e53df9912	To have a better understanding of classification of congenital hand anomalies, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and @DISEASE$ deficiencies, @PHENOTYPICFEATURE$, symbrachydactyly and constriction band were reviewed.	false
+de5ca12b908cfff47fe47f1d2807ff3fe4bee7b7	Muscle denervation @PHENOTYPICFEATURE$ or atrophy along the distribution of the posterior interosseous nerve is the most common MR finding in @DISEASE$ tunnel syndrome.	false
+6541ada527aa98510d6f6e4081df5b67862e1256	The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and @PHENOTYPICFEATURE$, like @DISEASE$ dysplasia.	false
+b4a4e1d447622ace2652416854541035a41879da	Fetuses with limb reduction defects, @DISEASE$ longitudinal deficiency, phocomelia, arthrogryposis, abnormal hand positioning, and @PHENOTYPICFEATURE$ had a higher likelihood of having an associated anomaly.	false
+9efa17063910dd002b553923508fe7bb7559a5ee	The most common upper @PHENOTYPICFEATURE$ was @DISEASE$ ray deficiency (138), followed by subgroups of undergrowth (91), upper limb defects due to constriction band syndrome (51), central ray deficiency (41), and ulnar ray deficiency (33).	false
+64f57c3ccbde0a7f7982322dc2138655b01528ab	Disorders of temporal processing are a characteristic feature of @DISEASE$, a significant component of the hearing problems that occur in the elderly, and a possible etiological factor in developmental @PHENOTYPICFEATURE$ and central auditory processing disorders.	false
+e417df3835f60f7dec0cbdbb5817f25913320e61	The patients were divided into four groups according to critical degree of enterovirus 71 infection: hand-foot-and-mouth disease (HFMD); central nervous system disease (CNSD); autonomic nervous system dysregulation (@DISEASE$) and @PHENOTYPICFEATURE$ (PE).	false
+525160bc1416ea99f586e359983fba1e7367ebb6	@PHENOTYPICFEATURE$, retrognathia and congenital heart disease in velo-cardio-@DISEASE$: a phenotype correlation study.	false
+12435616959ecb9a9230140c007cf405fb42ebda	Velo-cardio-@DISEASE$ is a developmental disorder characterized by heart defects, specific facial features, @PHENOTYPICFEATURE$ and learning disability.	false
+d42b2bbd782d5dbf37e8b48d086090ea2b197ef0	syndrome (Del22) (DiGeorge/Velo-Cardio-@DISEASE$) is characterized by congenital heart defect (CHD), @PHENOTYPICFEATURE$, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities.	false
+a8bf4a54610dbb5120517f8f5b548292b0ae3bdc	@PHENOTYPICFEATURE$ in a patient with velo-cardio-@DISEASE$.	false
+42d35a17a032c4fbfffc9bd7763476641e487c1d	Velo-cardio-@DISEASE$ (VCFS) is a common congenital disorder associated with typical facial appearance, @PHENOTYPICFEATURE$, cardiac defects, and learning disabilities.	false
+0662a0131fb3f4f4beb633312da8841c8d95d510	@PHENOTYPICFEATURE$ (36.1%), velo-cardio-@DISEASE$ (22.2%), and post-adenoidectomy (16.7%) were the most common causes of velopharyngeal insufficiency.	false
+5a593de97b2eb35b504d9579690d6067a2895a01	DiGeorge syndrome/Velo-cardio-@DISEASE$), whose phenotypes include craniofacial malformations such as dental defects and @PHENOTYPICFEATURE$.	false
+1d0337d5d1aaf3346a0c82f66e361b14497ec849	Velo-cardio-@DISEASE$ (VCFS), an autosomal dominant disorder, is characterized by @PHENOTYPICFEATURE$, cardiac defects, learning disabilities and a typical facial appearance.	false
+c969103c2f90fba4ace726fe357510c26f5c40e3	Branchio-oculo-@DISEASE$ (BOFS) is a rare autosomal-dominant @PHENOTYPICFEATURE$-craniofacial disorder with variable expressivity.	false
+a529b76f8a5032dede3b07dceac892e82a456eeb	A new syndrome involving @PHENOTYPICFEATURE$, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-@DISEASE$.	false
+ed4a71ab683aa9d7f1a5df4ba8a74960276de09c	Patients with @DISEASE$ manifest frontal cortical dysplasia, hypoplasia of the corpus callosum, cortical blindness with optic atrophy, profound mental retardation, and progressive @PHENOTYPICFEATURE$ with growth failure.	false
+78fa933ff38e32e1a882b709dbf6881e9e57b5fa	@DISEASE$: ABCD1 de novo @PHENOTYPICFEATURE$ and mosaicism.	false
+a051ec1196818e336f6f60e0eade113e688db265	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: @DISEASE$; XLD: X-linked dominant; XLR: X-linked recessive.	false
+8754c5b2761258684df391c77056cd479722e337	To our knowledge, this is the first case report of bilateral @PHENOTYPICFEATURE$ in a female @DISEASE$ carrier in the English ophthalmic literature.	false
+6f7da56818c2817c4a199ee7a34a7187f0f9c0b8	The @DISEASE$ is a rare condition that has previously been characterized by pre- and postnatal growth restriction, @PHENOTYPICFEATURE$, failure to thrive, developmental delay, and osteopoikilosis.	false
+6c7aa0c7689ee65d73ab70f25293c3341dbbf07e	Together, with recently published data concerning the @DISEASE$, where patients with an HMGA2 haploinsufficiency had @PHENOTYPICFEATURE$, this study provides further support of the important role for HMGA2 in growth.	false
+c4094888c73019200f1615ad88316e66b47ce975	Loss-of-function and gain-of-function mutations within Gsalpha-coding GNAS exons are found in various human disorders, including @DISEASE$, pseudohypoparathyroidism, fibrous dysplasia of bone, and some @PHENOTYPICFEATURE$ of different origin.	false
+63c062fa977f3bcfaee828657f726e5f1d5ea31e	The @PHENOTYPICFEATURE$ characteristic of acrodysostosis resembles the Albright's hereditary osteodystrophy seen in patients with pseudohypoparathyroidism type 1a, but defects in the ?-stimulatory subunit of the G-protein (GNAS), the cause of @DISEASE$, are not present in patients with acrodysostosis.	false
+1285c5265aa705b20536f94389d893d28a0344c2	The @PHENOTYPICFEATURE$ characteristic of acrodysostosis resembles the Albright's hereditary osteodystrophy seen in patients with @DISEASE$, but defects in the ?-stimulatory subunit of the G-protein (GNAS), the cause of pseudohypoparathyroidism type 1a, are not present in patients with acrodysostosis.	false
+be06178cc79cd491b4f8365e96c73a7097908d8e	Linear regression analyses revealed that the association between @PHENOTYPICFEATURE$ and @DISEASE$ alterations was significant only when the condition hsCRP >5mg/L was entered in the model.	false
+45aa0eda259751b5e4ee2b373d97a437f1d043f7	These findings are important as they indicate that, rather than @PHENOTYPICFEATURE$ itself, low-grade inflammation represents a major contributor of @DISEASE$ performance in obese subjects.	false
+5b33b8d2ad0de489d5e54f5f54970721bda6f675	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with @PHENOTYPICFEATURE$, hypoplastic male external genitalia.	false
+1e4e0d29718ae3cdf002084e07c5ad1dbd154a2e	@DISEASE$ virus causes extremely high rates of mortality in both mothers and infants; Zika virus is a TORCH infection that produces a congenital malformation syndrome and pediatric @PHENOTYPICFEATURE$.	false
+3e7c31d3cb3e9e1833e013ac2b0df30e1c8cb357	A subsequent similar headache attack was also associated with ipsilateral @DISEASE$ @PHENOTYPICFEATURE$ and gait ataxia.	false
+cc5f08ce1420b2cf68606615c5173600de705306	At our clinical examination, she presented left upper-@DISEASE$-fixed-dystonia, @PHENOTYPICFEATURE$ in left lower limb and pyramidal signs (Babinski and Hoffmann).	false
+51aaffaab10b5dd917d59bcc4681807424f880eb	An 11-year-old boy with @DISEASE$ of the thigh experienced three instances of catheter-related bacteremia resulting from After two episodes of @PHENOTYPICFEATURE$, two low-density lesions in the right parietal lobe and the left corpus callosum with enhanced pericavitary opacity were detected.	false
+1a8b283b1784022934323a6c90f20c8ec9e51e0a	Hamstring @PHENOTYPICFEATURE$, quadriceps weakness, soleus weakness, and lever-@DISEASE$ dysfunction are few factors which lead to increased knee flexion during stance phase.	false
+7d747389cb9c734051dc90fca6528c38cf6406cd	Relationship between self-reported upper limb @PHENOTYPICFEATURE$ and quantitative tests in hand-@DISEASE$ vibration syndrome.	false
+30acdd60999e0f185175cc2c1694f05bf31fc8c9	To establish the relationship between quantitative tests of hand function and upper limb @PHENOTYPICFEATURE$, as measured by the Disability of the Arm, Shoulder and Hand (DASH) questionnaire, in hand-@DISEASE$ vibration syndrome (HAVS).	false
+fc22e24dd4b9fc809ee9ce39ed747118df756527	Akathisia in adults with @PHENOTYPICFEATURE$: development of the Akathisia Ratings of Movement Scale (@DISEASE$).	false
+97e47dd0f234d31ff4ce4cd33331f8e3265c4adc	SPECT abnormalities with unilateral @DISEASE$ dystonia in a young @PHENOTYPICFEATURE$ apprentice cook: contralateral thalamo-cortical dysfunction.	false
+4b005a5b81191e7ac80607af633de6aed256fa8b	We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and @DISEASE$ dystonia, dysarthria, @PHENOTYPICFEATURE$, pyramidal tract signs, and psychiatric symptoms.	false
+c7456a63004195a05a9f452437cbee17482cd34a	Vascular lesions are a common factor in a wide spectrum of diseases, and their result, pulmonary @PHENOTYPICFEATURE$, is a severe clinical condition with a poor prognosis that worsens the normal course of the diseases to which it is associated (COPD, @DISEASE$, sarcoidosis, and congenital or acquired heart disease).	false
+6ae839229d1894658498f739223a749e0a0392f5	Diseases that cause smooth muscle dysfunction include familial visceral myopathies, nonfamilial visceral @PHENOTYPICFEATURE$, @DISEASE$, muscular dystrophies, amyloidosis, thyroid disease, and so on.	false
+f5f7a717c780138d07e41eeec6158a67e5c25a79	Diseases that cause smooth muscle dysfunction include familial visceral @PHENOTYPICFEATURE$, nonfamilial visceral myopathies, @DISEASE$, muscular dystrophies, amyloidosis, thyroid disease, and so on.	false
+9d316afe4a192ba878972723fbba76b98f5112dd	Relationships between MNH and portal hypertension, MNH and pulmonary @PHENOTYPICFEATURE$, and @DISEASE$ and pulmonary hypertension are discussed.	false
+556617b1efb07ed5acdc1aa35fa98a2b0d4e5262	Such an approach is particularly desirable in cases where measurements of other biometric parameters are precluded, for example, in diseases such as anencephaly, @DISEASE$, and @PHENOTYPICFEATURE$ dysplasia.	false
+aae8537bb591a9b80af052b88894683aad4ff54e	Fetal foot length is a reliable parameter for use in the assessment of gestational age and is particularly useful when other parameters do not accurately predict gestational age, for example, @DISEASE$, anencephaly, @PHENOTYPICFEATURE$ dysplasia.	false
+6bec5fdaf07128635453c61ef06eac8c31a669ac	There is risk of @PHENOTYPICFEATURE$ or death due to acute @DISEASE$.	false
+493abad31781bc4631da1c232bab63275604ae48	Eleven patients had various kinds of @DISEASE$, seven patients had idiopathic intracranial hypertension (IIH) and three patients had @PHENOTYPICFEATURE$ (NPH).	false
+708c56f89d460c14ba3732c1be7af404366294ec	We report on a male infant with internal @DISEASE$, absence of corpus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, @PHENOTYPICFEATURE$ with bowed long tubular bones and postaxial polydactyly of hands, and preaxial polydactyly in one foot.	false
+b85eca130ab5ee02c969a00d20f9c0ee7ed97514	These measurements are particularly useful when other parameters do not accurately predict gestational age in some cases such as @DISEASE$, anencephaly, @PHENOTYPICFEATURE$ dysplasia.	false
+d3dab34a8fc1d4e6c17c854aa51a2cffc2f50454	The TD2 fetus was characterized by polyhydramnios, @PHENOTYPICFEATURE$, a narrow thoracic cage, straight short femora, @DISEASE$ and a cloverleaf skull at 24 weeks' gestation.	false
+7b7294ab8c823c743f091736a304cba439dca786	In this fetus, findings of @DISEASE$, @PHENOTYPICFEATURE$, and probable pulmonary hypoplasia changed the intrapartum management.	false
+480397ee4adf3d2801dc5790fed9bb6f3ac735af	A 26-year-old, primigravid woman was referred for amniocentesis at 30 weeks of gestation because of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+92518fb361e4c716b71acb7137c4837ab318417a	Later, he developed @DISEASE$ due to a @PHENOTYPICFEATURE$ hemangioblastoma.	false
+43f568df308b73c049f7c5bbf96e3fe4921195a0	Bovine progressive degenerative myeloencephalopathy (@DISEASE$) is a neurodegenerative disorder in Brown Swiss cattle that is characterized by progressive hind leg weakness and @PHENOTYPICFEATURE$, while sensorium and spinal reflexes remain unaffected.	false
+1ffb7d5dcbd490f1a7aec675170e9afe15493b82	Allelic frequencies of the markers associated with illness were obtained for the following: citrullinaemia, spinal dysmyelination, spinal muscular atrophy, Brows Swiss fertility haplotype 2, congenital muscular dystonia, epidermolysis bullosa, Pompes, maple syrup urine, @PHENOTYPICFEATURE$, @DISEASE$, crooked tail, deficiency of uridine monophosphate synthase, hypotrichosis, Marfan syndrome, and weak calf syndrome.	false
+1da9670270bc2a9e6a83053ed53cd117602c16bd	@DISEASE$ is a rare overgrowth syndrome with distinct facial features in young children and variable learning @PHENOTYPICFEATURE$.	false
+c6b2c4121cefdc7d155a5bb1b47a5726fadb8610	The effect of exposure time on maximum acceptable dose (@DISEASE$) for avoidance of ultraviolet radiation B (UVRB)-induced @PHENOTYPICFEATURE$ was investigated.	false
+68cb2fee0500e15d7a317812ebb4a18e85f277c7	This article discusses the different types of TMD and orofacial @PHENOTYPICFEATURE$ problems that may occur during treatment of obstructive sleep apnea (OSA) with a @DISEASE$.	false
+d1d99800d0f445976b7275abf237ca90e3f2ee81	In this report, we describe two MADA patients with progressive skeletal changes, absent breast development, and @PHENOTYPICFEATURE$ in addition to the classical @DISEASE$ phenotype.	false
+eb0d924dd74ec0e4dbe9b2b7f256bf3a8d5d5e8c	Brain MRI revealed congenital @DISEASE$, right schizencephaly, and @PHENOTYPICFEATURE$.	false
+f44a0b8976c88c9955f8b04fa4aade0ed97d49ab	We conclude that MECP2 screening should be considered in males with severe neonatal @PHENOTYPICFEATURE$ and in males and females with a @DISEASE$ syndrome.	false
+b9143d646ca96281cbd4cdf4ddee9355a338836d	Oto-mandibulo-facial dysostosis is a term used for a unilateral congenital birth defect in which abnormalities can range from minor unilateral ear anomalies or preauricular tags to severe ones involving @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2e633386c9e5115cf1251ca7febbdbfaef239d15	Maternal health conditions associated with increased odds of @DISEASE$/microtia included @PHENOTYPICFEATURE$ (aOR, 1.31; 95% CI, 1.06-1.61)	false
+1d18fa24bc104700b71f16144454203f5e432462	Patients with @DISEASE$ may be first seen at hospital because of large anterior fontanelle; in addition, they also show obtuse mandibular angle, dental abnormalities and @PHENOTYPICFEATURE$, which are caused by mutations in TSK gene.	false
+f45dbd7280f57e9fd038a5fc3f4be0922bc11664	caf?-au-lait spots sometimes resembling @DISEASE$ type I, @PHENOTYPICFEATURE$ lesions, numerous adenomatous polyps, multiple pilomatricomas, or impaired immunoglobulin class switch recombination.	false
+3ad838eff5a42210f8de7401659694cb3f83eb06	The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of @DISEASE$ is rare and its coincidental presentation with oculocutaneous @PHENOTYPICFEATURE$ is yet rare and has not been reported so far.	false
+59cbb8642b3a5c859daa48db109361994640116b	Collectively, these results demonstrate that children with @DISEASE$ are more likely to have @PHENOTYPICFEATURE$, and support the use of appropriate interventions for this at-risk population.	false
+7bcef853515a749ceca361e4fdbc14868bc4e71f	@DISEASE$ is a genetic autosomal dominant disease characterized by multiple @PHENOTYPICFEATURE$ and hyperpigmentation.	false
+6ed90ab59bf4cabe6cfb0028ea0cc1f85ef465f8	An autopsy 15 years after the onset of symptoms revealed hypertrophic radiculopathy and @PHENOTYPICFEATURE$ due to CIDP with no evidence of @DISEASE$.	false
+d08fb2177c554979dc9b84017c96d8a819949048	@DISEASE$ (NF1), a common autosomal dominant disorder caused by mutations of the NF1 gene, is characterized by multiple neurofibromas, @PHENOTYPICFEATURE$, and a variety of other possible complications, including an increased risk of malignant neoplasias.	false
+a903ff9d43d2ca4da35edab63abc0994c1330848	Diagnosis based on localized proton spectroscopy included brainstem glioma, brainstem @PHENOTYPICFEATURE$, demyelination, dysmyelination secondary to @DISEASE$ (NF 1), and possible infection or radiation necrosis.	false
+3aed82bfee06ddffe3912ac2c6275a7b71913614	Increased growth is also seen in @DISEASE$, hemangiomatosis, arteriovenous malformations, congenital @PHENOTYPICFEATURE$, and syndromes such as Klippel-Trenaunay-Weber syndrome and Proteus syndrome.	false
+467f2279b2e4308714066c374466f6a22547e0c2	@DISEASE$ type I (NF1) is multisystemic disease characterized by @PHENOTYPICFEATURE$, increased susceptibility to tumor formation, neurological deficits and skeletal defects.	false
+513cbfbaa420f97dff698cb5391dc2d66096da84	Ash-leaf @PHENOTYPICFEATURE$ are characteristic for tuberous sclerosis and more than 5 caf?-au-lait spots suggest neurofibromatosis 1 (@DISEASE$).	false
+9c63207a6d9bc95167fd0a1db9968eecbb57635c	The presence of primary neurodegeneration, mental retardation, skin and immune system involvement, or renal tubular acidosis may point to rarer @PHENOTYPICFEATURE$ variants, whereas onset of primarily skeletal manifestations such as fractures and osteomyelitis in late childhood or adolescence is typical of @DISEASE$.	false
+d940416a02e1b181f73c9eb923ec4cfd9ba1c75e	One of six, and one of five hearts from 6-hydroxydopamine treated rabbits developed @PHENOTYPICFEATURE$ during hypoxia-reoxygenation when exposed to 3,7-dimethyl-1-propargylzanthine (DMPX) (10 ?M) + adenosine (@DISEASE$) (1 ?M) and DMPX (10 ?M) + ADO (10 ?M), respectively.	false
+b2da68dc697b65361fd0a233124e0bef1d8e32d2	VGSCs are involved in a wide variety of pathophysiologies, including epilepsy, @PHENOTYPICFEATURE$, multiple sclerosis, periodic paralysis, migraine, neuropathic and inflammatory pain, @DISEASE$ and cancer.	false
+bcb88ca501037c4db767d0681b6fc28f3d35f1f6	Molecular characterization of @PHENOTYPICFEATURE$ in the R6/2 mouse model of @DISEASE$.	false
+620175b9565a99ad3bc02d5c4ab61b52880429a9	? subunits are emerging as key players in a wide variety of physiopathologies, including epilepsy, @PHENOTYPICFEATURE$, multiple sclerosis, @DISEASE$, neuropsychiatric disorders, neuropathic and inflammatory pain, and cancer.	false
+44a371d53789f9cb64917a8f0d9d17ba0ea19e99	Significantly, chemical inhibitors of cathepsin B are effective for improving deficits in TBI and related injuries including ischemia, cerebral bleeding, cerebral aneurysm, @PHENOTYPICFEATURE$, pain, infection, rheumatoid arthritis, epilepsy, @DISEASE$, multiple sclerosis, and Alzheimer's disease.	false
+ebdfec9426f9002668376dde847bef98a29af053	Small-molecule ligands of class?IIa histone deacetylases (HDACs) have gained tremendous attention during the last decade and have been suggested as pharmaceutical targets in several indication areas such as cancer, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6681ebd08fa1ee8a26868f687c0c39f0f38f6547	Animal models suggest that defects in NSC proliferation and differentiation contribute to several brain disorders (e.g., microcephaly, @PHENOTYPICFEATURE$, autism, schizophrenia, and @DISEASE$).	false
+769c721a2dbae6a8681e23e6c3665fe5217f4680	Animal models suggest that defects in NSC proliferation and differentiation contribute to several brain disorders (e.g., @PHENOTYPICFEATURE$, macrocephaly, autism, schizophrenia, and @DISEASE$).	false
+8e5b90509becc765fea03b4103fe1422a6693e82	This review offers some basic information on the discovery of a new type of mutations being the cause of some significant neurologic diseases: myotonic dystrophy, @DISEASE$, spinocerebellar ataxia type 1, spinobulbar pallido-louysian @PHENOTYPICFEATURE$, fragile X syndrome and some other, up to a total of ten entities.	false
+6d86ae64e92120a88033c1b1f12d7f4fce0f6689	@DISEASE$ (HD) is an inherited neurodegenerative disorder of which @PHENOTYPICFEATURE$ is a common feature, and multiple lines of evidence support a muscle-based pathophysiology in HD mouse models.	false
+f7d02fae7501d358ef03a17f9a08bfe904d1bd97	The clinical diagnosis was @DISEASE$, but there were a few atypical clinical features such as a history of biting the tongue, tics, marked hyporeflexia and lower limb @PHENOTYPICFEATURE$.	false
+8fb9fa5b41005a641217fa5725f86ed4dd26c42f	@DISEASE$ (HD) belongs to a growing list of neurodegenerative disorders (fragile X syndrome [6], myotonic dystrophy [1], spino-bulbar @PHENOTYPICFEATURE$ [2] etc.) characterized by unstable expanded trinucleotide repeats (so-called 'dynamic mutations').	false
+57fa25e9169044aeb726cfb94e36e9a8ee2adc43	Concentration gradients of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed in 762 successive CSF fractions (2 ml lumbar CSF) from 15 patients with the adult @PHENOTYPICFEATURE$ syndrome (@DISEASE$) and 11 patients with hydrocephalus of other causes (mixed group).	false
+3e275b20dc84cb5201884ee567e21c0d1de97f6a	Concentration gradients of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed in 762 successive CSF fractions (2 ml lumbar CSF) from 15 patients with the adult hydrocephalus syndrome (@DISEASE$) and 11 patients with @PHENOTYPICFEATURE$ of other causes (mixed group).	false
+782623c40a8ca007fb4a2066da279fd889a3ea56	Monoamine metabolites, cholinesterases and lactic acid in lumbar cerebrospinal fluid (CSF) were investigated on patients with the adult @PHENOTYPICFEATURE$ syndrome (idiopathic normal pressure syndrome; @DISEASE$, n = 15), Alzheimer's disease (AD, n = 14), multi-infarct dementia (MID, n = 13) and controls (n = 21).	false
+096e7795951174d2b867b33dbb7b58829c4e7c99	In contrast to pituitary tumor and idiopathic hyperprolactinemia, there was no association between @DISEASE$ and weight gain and/or @PHENOTYPICFEATURE$, and hypogonadism in patients of both genders.	false
+71773609aed6e84c5ec54e8fb9b087b12330d701	Alternative high school (@DISEASE$) students have low levels of physical activity (PA) and high rates of overweight/@PHENOTYPICFEATURE$.	false
+2b07fb5e7484011ff099ec6b90cb1218b0031c57	Body mass index (BMI) and the apnea/hypopnea index (@DISEASE$) were determined for categorization of @PHENOTYPICFEATURE$ and sleep apnea status.	false
+f31d848d3e72061ad667cf4e14fe3f5e0d7b5447	Non-thrombotic manifestations were mainly immunologic thrombocytopenia, @DISEASE$, skin lesions, arthritis, pulmonary hypertension, heart valve vegetations and @PHENOTYPICFEATURE$.	false
+10e04f99d5295d1bb4f1d33eaafb978e472c1a35	We studied 533 consecutive OSA patients, mean age 55.6 +/- 10.3 years (range 24-81), with @PHENOTYPICFEATURE$ (BMI 34.4 +/- 6.6 kg/m(2)) and severe OSA (@DISEASE$/RDI 37.8 +/- 21.8).	false
+7361b42de21cf80d2594855c955e8f7971824733	Plasma log MRP8/14 levels showed apnoea/hypopnoea index (@DISEASE$) dose-dependent increases regardless of @PHENOTYPICFEATURE$.	false
+1f77d122b41f5af14b6d7e154fca7eb288f47ce1	In 1244 subjects 15 to 34 years of age, we measured gross atherosclerotic lesions in the right coronary artery (RCA) and abdominal aorta (AA) and American Heart Association (@DISEASE$) lesion grade in the left anterior descending (LAD) coronary artery; serum CRP, lipoprotein cholesterol, and thiocyanate (for smoking) concentrations; intimal thickness of renal arteries (for hypertension); glycohemoglobin (for hyperglycemia); and body mass index (for @PHENOTYPICFEATURE$).	false
+a634275f08c1c44bb85bdf0a4d7829d1f907a16f	Patient 1 was a black male 3.5 years old who had recurrent pyogenic infections, @PHENOTYPICFEATURE$, oral thrush, and systemic @DISEASE$.	false
+f74b177dc1645681ff5bd724afd953286b4ff685	Yunis-Var?@DISEASE$ (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, @PHENOTYPICFEATURE$, and severe neurological involvement.	false
+75a9edd0aa0e223b3b42c04c67e26229aff7e5f6	We present a case of acute renal failure complicated by malignant hyperkalemia and @DISEASE$ @PHENOTYPICFEATURE$ cardiac arrest.	false
+6321e2a4321c5f467676e829bbdb6e8cd6b1a771	The subjects can have gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with @DISEASE$ @PHENOTYPICFEATURE$ and narrow lips; a low caries rate; drooling, and hypersalivation.	false
+426bba37eb20d2fc2c44fbffc8b85c8260426682	Enlarged vestibular aqueduct (@DISEASE$), known as the most common form of @PHENOTYPICFEATURE$, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner.	false
+2834766e1c9aebfe6a8d159b275af7fa24ccee74	The subjects can have gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with @DISEASE$ @PHENOTYPICFEATURE$ and narrow lips; a low-caries rate; drooling, and hypersalivation.	false
+a13494e40e24d6c4089272cc0b45ba3a242dc4f4	This shift results in excessive cardiac lipid accumulation and @DISEASE$ @PHENOTYPICFEATURE$.	false
+ddd47c91026a85f78b59095dd1e760e163715193	The subjects often display gray, pale, shiny faces with an asymmetric suffering expression; frontal bossing, with @DISEASE$ @PHENOTYPICFEATURE$ and narrow lips; a low dental caries rate; drooling, and genuine hypersalivation.	false
+1c701408b174c7f8149b6afc206b905704aec855	The hearing loss is associated with @PHENOTYPICFEATURE$, ranging from an isolated enlarged vestibular aqueduct (@DISEASE$) to a typical coclear dysplasia.	false
+71b3173acf01f17b331c6814af7b193b53153793	Alpha-cardiac actin mutations lead to @PHENOTYPICFEATURE$, cardiomyopathies and @DISEASE$ midline defects.	false
+180f804b600e2b247656942fcdacd49991c4555d	Deficiency leads to pain, @PHENOTYPICFEATURE$, and @DISEASE$ blindness.	false
+d99fc48caef88bfcabe5678a7618ad1d15b83663	detecting @PHENOTYPICFEATURE$ with @DISEASE$.	false
+d168ffb4015dd0068fa19e8b7ace7a7d537db139	P?<?0.0001): suspected sacroiliitis?=?50 (10.2%); definite sacroiliitis?=?16 (3.3%); osteitis-condensans-ilii?=?38 (7.8%); @DISEASE$?=?24 (5%); degenerative changes?=?22 (4.5%); accessory SIJ?=?22 (4.5%); and @PHENOTYPICFEATURE$?=?1.	false
+40ea5a8d3194e096efee6ff67b4798530b2135f6	Sacroiliitis was found in 71 examinations (25%) and alternative diagnoses were suggested in 87 (31%) (OCI 8.9%, anatomic variants 5.3%, septic sacroiliitis 5.3%, degenerative findings 4.3%, @DISEASE$ [DISH] 1.5%, stress reaction 0.7%, @PHENOTYPICFEATURE$ 0.3%).	false
+ae9792d13db82f82e19fea773f4440fbb3eb659b	Cervical spine disorders which can cause swallowing difficulties (cervicogenic dysphagia; CD) are: chronic multisegmental/MS dysfunction (dysfunction=functional blockade) of the facet joints, changes in physiological curvature of the cervical spine, degenerative changes (anterior osteophytes, anterior disc herniation, osteochondrosis, osteoarthritis), inflammatory rheumatic diseases, @DISEASE$, injuries, conditions after anterior cervical spine surgery, congenital malformations and @PHENOTYPICFEATURE$.	false
+bd8d328fae343f3f92e8a6a92333a9b07dd1bfe7	D25V apolipoprotein C-III is a new human amyloidogenic protein and the first conferring cardioprotection even in the unfavourable context of @PHENOTYPICFEATURE$, extending the evidence for an important cardiovascular protective role of @DISEASE$.	false
+4ea75c74aad51ea6b66634692a4dc07665ae5ee1	Spontaneous coronary artery dissection (@DISEASE$) is a rare disease of young adults that can present acutely as an acute coronary syndrome (ACS) with chest pain, as malignant @PHENOTYPICFEATURE$, and even as sudden cardiac death.	false
+19243f0c8c408b2919e7e04ab395292cd12581f0	The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial @DISEASE$ combined hyperlipidemia, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, @PHENOTYPICFEATURE$, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs.	false
+311ee0d3b1fb3eacf5d7b044d6a33b5c43bc62ee	Endocrinological examinations revealed severe hypocortisolism and partial @PHENOTYPICFEATURE$ with isolated @DISEASE$.	false
+33c6c52f822127cf834a7177bb7f687d84489040	The case report is about a 34-year-old man with multiple @PHENOTYPICFEATURE$, firm and tender subcutaneous nodules on both thighs and legs after the withdrawal of long-term doses of dexamethasone prescribed before and after surgery for a frontoinsular @DISEASE$.	false
+cd39fc4a9dc7127ca91c08140fa8a43264c8ace3	MEDLINE, Embase and Cochrane Databases (1980-2013) were searched for studies reporting the outcomes of unilateral adrenalectomy with respect to hypertension, diabetes, dyslipidaemia, @PHENOTYPICFEATURE$ and osteoporosis in patients with @DISEASE$.	false
+7f68e535b0029cca2f8a71d86181bc1c9ca0a3dc	The combination of @DISEASE$ and EPA-PL contributed to a synergistic effect on alleviating the @PHENOTYPICFEATURE$-related insulin resistance due to the amelioration of an inflammation-centric peripheral insulin response.	false
+27e825547e3c81c82dfe7ed98c4ca694c728fa74	Pre-clinical work suggests that upper thoracic spinal cord stimulation (@DISEASE$) may have therapeutic effects in the treatment of @PHENOTYPICFEATURE$ (HF).	false
+076cf635a2ef5b96419de1d3d2591f646972f862	The frequency of hypertension (61% versus 63%), @PHENOTYPICFEATURE$ (46% versus 55%), diabetes mellitus (50% versus 36%), hypercholesterolemia (39% versus 36%), and low HDL cholesterol (28% versus 36%) were not significantly different between CS and @DISEASE$ patients, respectively.	false
+7740e0d5bb8dfeaf119d051c13c068b89896f3af	Eicosapentaenoic acid-enriched phospholipids (EPA-PL) significantly ameliorate insulin resistance and elevate the level of hepatic lipolysis, which may have a synergistic effect with @DISEASE$ in alleviating @PHENOTYPICFEATURE$-related insulin resistance via multiple mechanisms.	false
+3ebd3071bcb2275c1e4217a6b23efaba38c54281	Hypertension, diabetes mellitus, and @PHENOTYPICFEATURE$ were more common in patients with @DISEASE$.	false
+42d39ec2c38d9a21bc2b6685f0ae9aa752218a59	Since patients with @DISEASE$ frequently have risk factors for atherosclerosis such as hypertension, diabetes, and @PHENOTYPICFEATURE$, and the surgical management of SCS with adrenalectomy may offer an advantage.	false
+99f228d244dc7b4a6607802c965518c66bc7768b	We hypothesized that @PHENOTYPICFEATURE$ negatively affects survival throughout the disease course, and sought to determine the prognostic role of BMI at the time of secondary cytoreductive surgery (@DISEASE$) for recurrent ovarian cancer.	false
+9afb03cf3be7cdc3897b05c814b6cbf0b1a81bbf	@DISEASE$ (WDSTS) is a rare genetic disorder characterized by facial gestalt, @PHENOTYPICFEATURE$, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene.	false
+25d7fdc91bbbc3aa277505f97d00400ddff28eee	@DISEASE$ (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, @PHENOTYPICFEATURE$ and growth retardation, which is caused by variation of KMT2A gene.	false
+428375f8c3eff02339dff9e3719d07717d71ce22	@DISEASE$ (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and @PHENOTYPICFEATURE$.	false
+16238cbc87c9002e8af41ef202efe89ce4d9a932	These findings indicate that @PHENOTYPICFEATURE$ in @DISEASE$ infection may be due at least in part to activation of PKC by SARS proteins, leading to decreasing levels and activity of ENaC at the apical surfaces of lung epithelial cells.	false
+26f45e5fa05458cfcebc8750f74d9eaa4723f90a	Previous reports have indicated that patients with @DISEASE$ (SARS)-associated coronavirus infection could develop atypical pneumonia with fulminant @PHENOTYPICFEATURE$.	false
+cc84039383dd9646708abfc6de37a052e2e9d4f1	Mouse-passaged @DISEASE$-associated coronavirus leads to lethal @PHENOTYPICFEATURE$ and diffuse alveolar damage in adult but not young mice.	false
+8970ef42e8e84255453bc964eed15f045ce27be1	Gene p63: In ectrodactyly-ectodermal dysplasia clefting, @PHENOTYPICFEATURE$-ectodermal dysplasia, @DISEASE$.	false
+f02a06149a3a57b7ffd0ea643cd255c259186a01	Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with @PHENOTYPICFEATURE$-ectodermal dysplasia-cleft lip/palate syndrome and @DISEASE$.	false
+085e00e3ab5a01924aca7f3c50f1328ed818a76a	An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), @PHENOTYPICFEATURE$-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and @DISEASE$ (RHS).	false
+d48e24643b4dc469748394d6e11238dd97f26e4f	@DISEASE$, described in 1911 by Lafora and Glueck, is an @PHENOTYPICFEATURE$ hereditary clinical-pathological entity, which begins at the end of childhood or during adolescence, presents atypical absences, generalized and atonic tonic-clonic seizures, which can evolve to the epileptic state.	false
+6ca0cbfd3bc15e43b8ae12c5442fc22daceca21b	Novel ANO5 mutations causing hyper-CK-@DISEASE$, limb girdle @PHENOTYPICFEATURE$ and Miyoshi type of muscular dystrophy.	false
+b0a314e4330bce4a6afdc1007408cc2db31ce3ee	It seems that the familial association of lissencephaly/@DISEASE$/@PHENOTYPICFEATURE$ represents a new entity.	false
+ee982b1b6b494303b00bb1cd42b47078b9b55365	Patients had mild @PHENOTYPICFEATURE$ and episodic hyper-CK-@DISEASE$ triggered by infections or drugs.	false
+1906e78de04434fdffa34dfa0bd8098cdf2c5591	Since age 12 years, a 25-year-old woman had a syndrome with @DISEASE$, @PHENOTYPICFEATURE$, and spontaneous myoclonus.	false
+b71880279fbc32d21bf459c68bb5b9a96548016e	@DISEASE$, retinitis pigmentosa, leukoencephalopathy and @PHENOTYPICFEATURE$ associated with a novel m.5513G>A mutation in the MT-TW gene.	false
+3183101dfc1fb5eaea0852bfdb37d59847030939	The inhibition of growth and excess apoptosis of @DISEASE$ cells may contribute to the formation of @PHENOTYPICFEATURE$ and other orofacial congenital malformations.	false
+5abcd987e05a6a4ed955e50bfd967954ece0b42c	We describe a male infant with @DISEASE$ (EME) associated with the congenital nephrotic syndrome, microcephaly, multiple minor anomalies, and @PHENOTYPICFEATURE$.	false
+efd21c6c6a879fd5b7cd2ad322ff183752c9a298	We report a case of the eosinophilia myalgia syndrome (@DISEASE$) with incapacitating myalgias, weakness secondary to a severe polyneuropathy, and @PHENOTYPICFEATURE$ in all four extremities requiring aggressive rehabilitation treatment.	false
+2de9cd1e2e5098d7960e62044f622066c544b599	frequency differences in ECA and @DISEASE$ @PHENOTYPICFEATURE$.	false
+6c1fcb9720c5a8202ea1b2c46380ea36c1454267	@DISEASE$ with positional @PHENOTYPICFEATURE$ and acetazolamide responsive episodic ataxia.	false
+acf00da92f8ffb161472bc7db4a4c2bf0008f0d0	Positional @PHENOTYPICFEATURE$ and macroscopic downbeat positioning nystagmus in @DISEASE$ (SCA6).	false
+9f0b86ea4715c5ccabf387392ec02a84f7382d16	Vertigo and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+6bf9739044597ae605070c88a130223e309e0ab9	Molecular analysis of a de novo @PHENOTYPICFEATURE$ for @DISEASE$ and (CAG)n repeat units in normal elder controls.	false
+13388d62e77a3ea4ee7e0cf868a698abeedc1d87	We here describe the results of a visual suppression test in six patients with @DISEASE$ (SCA6), a central positional @PHENOTYPICFEATURE$, and nine patients with benign paroxysmal positional vertigo (BPPV), the major peripheral positional vertigo.	false
+49c46cd77da735d7503ba6ab029d85f4c66eb909	Other important applications include the assessment of the safety and efficacy of various treatment modalities as well as the characterization of bone repair in @DISEASE$ or @PHENOTYPICFEATURE$.	false
+56a0dfe2a4439738b4eb8662521b36eba2b13124	Caution should be exercised when interpreting a bone scintigraphy in patients with known malignancy and coexisting @PHENOTYPICFEATURE$ or @DISEASE$.	false
+b35865682ee6a5f87593519289460c463e8ae21a	A potential relationship between long-term fluoride exposure and incidence of @DISEASE$ in @PHENOTYPICFEATURE$.	false
+9b40b93f2e9442b501a5b6897fd88b7fd22e35ea	Biochemical markers of bone turnover are used to monitor @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+06e3602007f3da64980b4e9c1b70b3ae44af231a	We excluded patients with @PHENOTYPICFEATURE$ (serum creatinine greater than 140 mumols/l), cancer, or previous @DISEASE$.	false
+064d8a714502f160c7b0a5c5807f5697477eb24e	Resection of the @PHENOTYPICFEATURE$ led to reversal of @DISEASE$.	false
+34e30b1f1f3da7b6c669677da1228bb05a8f8998	If the value is extraordinarily high without @PHENOTYPICFEATURE$, @DISEASE$ or bone metastatic tumor should be considered.	false
+96f8d444df095b8ec7ace30e1db022bb9cdfb027	@DISEASE$ might commence early in the course of @PHENOTYPICFEATURE$.	false
+91f38e26bcd133222f4e118b790b16aa70fb0bc1	Infantile cystinosis presents as progressive @PHENOTYPICFEATURE$ and the Fanconi syndrome and @DISEASE$ often develop.	false
+11a17998afed42d7cfdbb0c3a2d95ae599c4ab23	He had @PHENOTYPICFEATURE$ with @DISEASE$ and episodes of hyperthermia with lactic acidosis.	false
+510ebeea4dd617ab7659130d23083f4aa9224f03	The rate of large thyroid, @DISEASE$, or @PHENOTYPICFEATURE$ >1 cm was significantly higher in the adult group than in the pediatric group.	false
+f564e24cd9e385f32dc0cee2cd60ebc43e545835	Germ-line mutations in DICER1 are responsible for a rare cancer syndrome, including @PHENOTYPICFEATURE$ that can co-occur with @DISEASE$ (MNG).	false
+e78a1cdca8ae0f8d30c4c6bd95fe28435b639f28	We excluded patients with a thyroid @PHENOTYPICFEATURE$, thyroid surgery, panhypopituitarism, or surgical complications of @DISEASE$ or a thyroid nodule.	false
+cd9271230fced313b1c45b7f12b8eb3f2e15c2be	In both cases, the @PHENOTYPICFEATURE$ appeared as a dominant nodule in a @DISEASE$.	false
+cfd58137e7cd16fe3ccc7f5bb8d72d8f76e92a63	Specific ultrasonographic patterns could be established for cyst, solid @PHENOTYPICFEATURE$, @DISEASE$, cystadenoma, and thyroiditis.	false
+0bafeda4b4b8d87bb35637a6b491422eae1c5861	In this report, we discuss such a @PHENOTYPICFEATURE$ and its recurrence in a 78-yr-old female with @DISEASE$, focusing on the imaging evaluation of this unusual tumor.	false
+000d0f313ad23293d8712b9a694f546ea03358ac	In this report, we discuss such a tumor and its recurrence in a 78-yr-old female with @DISEASE$, focusing on the imaging evaluation of this unusual @PHENOTYPICFEATURE$.	false
+61d6fa6b3ecabcb0e819c05fb46d89d5560e9144	Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), @DISEASE$, ovarian Sertoli-Leydig cell @PHENOTYPICFEATURE$, and/or other types of tumors.	false
+84a594b1a6e5bce2a45efe39315cb97eab1e0098	Patients with DICER1 syndrome commonly develop pleuropulmonary blastoma (PPB), @DISEASE$, ovarian Sertoli-Leydig cell tumors, and/or other types of @PHENOTYPICFEATURE$.	false
+da6b3d553b59c9cc9a80eec9cf894fc30db70f3f	The primary @PHENOTYPICFEATURE$ was a multifocal papillary thyroid cancer arising on a background of @DISEASE$.	false
+e6ae8b47ecfb3e54dbe250b40f34542a7bdc0870	The risk of thyroid cancer and @DISEASE$ (MNG) in DICER1 syndrome, a rare @PHENOTYPICFEATURE$-predisposition disorder, is unknown.	false
+45f8afb9c56a61c765cfbb97927f6deab3a35119	Pathological studies revealed that 66% of cases were @DISEASE$ and @PHENOTYPICFEATURE$ was present in 13% of the patients.	false
+dc42e6129a1a2ef184ddcdc73863462c6cf3bdae	Neonates with @DISEASE$ (CDH) suffer from a diaphragmatic defect, lung hypoplasia, and pulmonary @PHENOTYPICFEATURE$, with poor lung function forming the major clinical challenge.	false
+c0db5c4b56779bf5b951172a70ad8018424fa845	The pathophysiologic features of @DISEASE$ (CDH) include pulmonary hypoplasia, pulmonary @PHENOTYPICFEATURE$, surfactant deficiency, and decreased pulmonary compliance.	false
+a9bd8939bff33aa52ceb7a071757200f4f9585af	The pathophysiology of @DISEASE$ (CDH) results from a combination of pulmonary hypoplasia, pulmonary @PHENOTYPICFEATURE$, and surfactant deficiency.	false
+b1a2c7e2ee3ed36b0b6cf79fe89a96b09b2e6c7f	Infants with @DISEASE$ had significantly impaired ventricular function and pulmonary @PHENOTYPICFEATURE$, compared with controls.	false
+8eac82ad4791f2e39cf2cee8e670a575dafecf31	This study examines whether nitrofen, able to produce CDH in fetal rats, also induces @PHENOTYPICFEATURE$ and, if so, whether these are similar to those seen in @DISEASE$ patients.	false
+17a1d476bd0571801c86b6ff2d829466c3f3e285	Associated with abnormalities of the urinary tract, cardiovascular system, gastrointestinal atresia, @DISEASE$ @PHENOTYPICFEATURE$.	false
+4b82d1c174db55fdb220df1ec3753ec521d99175	The most common cause of death among @DISEASE$ patients is respiratory insufficiency and associated pulmonary @PHENOTYPICFEATURE$, and most of the fatalities occur before 1year of age.	false
+fe7a8342f119180bec0866d87193226662e5dfdd	Children born with @DISEASE$ suffer a number of co-morbidities, the most serious of which is respiratory insufficiency from a combination of alveolar hypoplasia and pulmonary vascular @PHENOTYPICFEATURE$.	false
+d988d4e40b26f5c02cae67b5bd7179176b4ae9d6	The pathophysiology of the lamb model of @DISEASE$ (CDH) involves pulmonary hypoplasia, pulmonary @PHENOTYPICFEATURE$, and surfactant deficiency.	false
+d960c9e2afd417a12c273eb7926970fdaafb7248	Fetoscopic endoluminal tracheal occlusion (FETO) aims to reverse pulmonary hypoplasia associated with @DISEASE$ (CDH) and mitigate the associated respiratory insufficiency and pulmonary @PHENOTYPICFEATURE$ after birth.	false
+c0a88fd23e3adb30ec3517b6422c823e9aea7270	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, @DISEASE$, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, @PHENOTYPICFEATURE$, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+f3a88fab9d7e0e444cf5aed0b2724f76fbcfddd7	Fundus images revealed a characteristic golden sheen with no retinal degeneration in @DISEASE$ patients, excluding 2 with macular degeneration detected by FAF, OCT, or both and 1 with mild @PHENOTYPICFEATURE$ confirmed by OCT and fluorescein angiography.	false
+e212b8450d9edc3a4ff4896350d143018b765285	Two cases of @DISEASE$ with prominent @PHENOTYPICFEATURE$ portraying rare initial manifestations are reported.	false
+4563911e5d9e892416fc11ce162a50751728bd25	[@DISEASE$ and @PHENOTYPICFEATURE$: report of 2 cases].	false
+f2c76e639d0b209ddd0256893cac1504d9ccd799	Antimyolemmal antibodies can be demonstrated in sera of patients with coxsackie B, influenza, mumps and @DISEASE$ perimyocarditis, in sera of patients with postpericardiotomy and postinfarction syndromes, in part of the sera of patients with endocarditis and in some patients with @PHENOTYPICFEATURE$ heart disease most likely due to secondary immunopathogenesis after perimyocarditis.	false
+afffc7364f5e8635d46cc191114cc6bde8231fff	Coxiella burnetii survives in monocytes from patients with @DISEASE$ endocarditis: involvement of @PHENOTYPICFEATURE$ necrosis factor.	false
+a70ea5ed3c81d0d6c9f101447e5143109d97bb5a	Interleukin-10 stimulates Coxiella burnetii replication in human monocytes through @PHENOTYPICFEATURE$ necrosis factor down-modulation: role in microbicidal defect of @DISEASE$.	false
+4376ad7e5ba6ad7883d0ba3ff1191c8d58db4730	@DISEASE$ (PTCD) is an exceptionally rare brain stem and @PHENOTYPICFEATURE$ characterized by ventral pontine hypoplasia, vaulted pontine tegmentum, hypoplasia of the vermis, subtotal absence of middle cerebellar peduncles, lateralized course of the superior cerebellar peduncles, and absence or alteration of the inferior olivary nucleus.	false
+3ed6dccfb241be7999fb65551e2b5d40232fb45a	Pontine tegmental cap dysplasia (@DISEASE$) is an exceptionally rare brain stem and @PHENOTYPICFEATURE$ characterized by ventral pontine hypoplasia, vaulted pontine tegmentum, hypoplasia of the vermis, subtotal absence of middle cerebellar peduncles, lateralized course of the superior cerebellar peduncles, and absence or alteration of the inferior olivary nucleus.	false
+b4655cb56f84d819fca8468c9fc004da2a00c63a	These include @PHENOTYPICFEATURE$, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, albinism, congenital fibrosis of the extraocular muscles type 1, Duane retraction syndrome, and @DISEASE$.	false
+7457e7d0439001d69a6f01141b13b7f4c67ef15b	Deleterious de novo variants of X-linked ZC4H2 in females cause a @PHENOTYPICFEATURE$ with @DISEASE$.	false
+2b319a3ca0bf4ac7ee40c7de49ce60738e4d1164	In addition to white spots in the fundus, patchy areas of @PHENOTYPICFEATURE$ were noted, which were reminiscent for an early stage of @DISEASE$ (RPA).	false
+c6e333e853bf2cb16c9696947a07ee95962e6a9a	Some patho-anatomical details are demonstrated in three selected cases: newborn infants with 1. @DISEASE$. @PHENOTYPICFEATURE$ communis with interruption of the aortic arch, and 3. aortic-left ventricular tunnel.	false
+e0a5a0592c94aaed2550719dd911c25c72a641c3	From the author's 12 years experience in fetal echocardiogram, 1,000 fetal hearts were studied and 12 cases had @PHENOTYPICFEATURE$ (CHD): 4 ventricular septal defects, 1 Ebstein's anomaly, 1 Tetralogy of cantrell, 1 single atrium and single ventricle, 1 @DISEASE$ abnormal tricuspid valve with tricuspid regurgitation, 1 calcification RV, LV and interventricular septum with hydrops fetalis.	false
+b029a2311de979706eea560133c498a63a5d4ea0	The cause of OPLL remains unknown: genetic factors, vitamin A, association with @DISEASE$, calcium @PHENOTYPICFEATURE$ are discussed.	false
+b340a7bb10204178db3bfa6021625b02638e1245	Specific conditions discussed are rheumatoid arthritis, crystal deposition arthropathies, osteoporosis, @DISEASE$, diabetes mellitus, hypertrophic osteoarthropathy, Paget's disease, @PHENOTYPICFEATURE$, sarcoidosis, sickle cell anemia, and acromegaly and their effects on the heel.	false
+112f8481b5c822113a70328d7ef8ba0f65dc4668	characteristic clinical findings of @DISEASE$ disease include abnormalities of the skin and hair in conjunction with characteristic facial features and @PHENOTYPICFEATURE$.	false
+332b9a6d5bb31ed353fdeea1dd20305a4d8b13b5	@DISEASE$ is a rare segmental premature aging disease with significant @PHENOTYPICFEATURE$.	false
+ecb8876417b40a4fb57962f241fafcfeabea221a	Many of these patients exhibit pathological autoimmune diagnostical findings and developed autoimmune diseases as for instance @DISEASE$-like syndrome, myasthenia-like syndrome with progredient @PHENOTYPICFEATURE$, autoimmun-hemolysis and autoimmun-thrombocytopenic purpura.	false
+4e86088f1bfab738ea5bbbd74dad6a00147eeb6e	[Undifferentiated bronchopulmonary carcinoma associated with @DISEASE$ and @PHENOTYPICFEATURE$ lanuginosa.	false
+072d729c22ae21612cc307aabe9a88a83e790015	She had photosensitive skin of early onset, @PHENOTYPICFEATURE$, and severe @DISEASE$-like lesions of the hands.	false
+e4904044ef37f2d46fc4d16e27cd5947baf4cc47	She had @PHENOTYPICFEATURE$ of early onset, hypertrichosis, and severe @DISEASE$-like lesions of the hands.	false
+22029a80c672fdabc09451ef0bc283f03841e768	Stiff skin syndrome is a rare @DISEASE$-like disorder of unknown etiology characterized by stone-hard indurations of skin, mild @PHENOTYPICFEATURE$ and limited joint mobility.	false
+43b632201b2f02afe610b9e6a359a66b997dcca2	This paper discusses selected paraneoplastic rheumatologic syndromes that often occur in older people, including carcinomatous polyarthritis, remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ (RS3PE), palmar fasciitis-polyarthritis syndrome, hypertrophic osteoarthropathy, tumor-induced osteomalacia, cancerassociated myositis, paraneoplastic @DISEASE$ like syndrome, paraneoplastic vasculitis and paraneoplastic Raynaud's syndrome.	false
+60bedb9c0e82791b1b7c426d0d47a90304b6ef66	Evolving new indications for ACE inhibitors include the diagnosis of renovascular hypertension, the prediction of surgical success, the treatment of @DISEASE$ renal crisis, the reduction of proteinuria, renal protection, cardioprotection, the improvement of arterial compliance, in Bartter's syndrome and idiopathic @PHENOTYPICFEATURE$, etc. ACE inhibitors are usually well tolerated but in some instances they may cause class-specific side effects such as hypotension; usually reversible azotemia or renal failure, especially in patients with renal artery stenosis or with CHF with low blood pressure; cough; angioedema; and hyperkalemia.	false
+7c0d7bcb0fcba7624b8b12c5bced771b40fe6a0f	Stiff skin syndrome is a rare cutaneous disease, @DISEASE$-like disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild @PHENOTYPICFEATURE$.	false
+d3a508497988769ba3f5c8a7a2727e893718b6b3	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and @DISEASE$.	false
+7d9c838b2e8f8f390a5082024ac6f71f40e68f98	A number of @DISEASE$ (?-thal) patients in the course of the disease exhibit @PHENOTYPICFEATURE$ affecting skin, eyes and the cardiovascular system.	false
+f8872e870f98d81a0d3970cf5b960c0a0733b7fa	Among these diseases, pelvic tuberculosis, ovarian endometrioid cyst and @DISEASE$ are the three most common ones, others are: fibrothecoma, thecoma, struma ovarii, adenofibroma, benign Brenner tumor, mature theratoma, ovarian @PHENOTYPICFEATURE$ and fibromatosis.	false
+2210a174691ead7de5fb1d83ab2e6c84656b2588	[@PHENOTYPICFEATURE$ @DISEASE$ with extensive cystic degeneration.	false
+c97fe4fe45fcd6091aeab4c24a8af08c0a587475	The use of trimethoprim/sulfamethoxazole in the prevention of @DISEASE$ in patients with acute lymphoblastic leukemia (ALL) may cause undesirable adverse effects: fungal @PHENOTYPICFEATURE$, neutropenia, and drug resistance.	false
+d363f88942c9586720660ff98f3a990589ab059d	Serious adverse events suspected to be treatment related included peripheral oedema, pneumonia, @PHENOTYPICFEATURE$ and @DISEASE$ jirovecii infection.	false
+7f0c8719d034d56dd9edf45257763be0d57efe43	The associated conditions were infectious: bacterial pneumonia (n = 50), pulmonary tuberculosis (n = 10), @DISEASE$ (PCP; n = 5), and empyema (n = 2); and noninfectious: renal failure (n = 15), hypoalbuminemia (n = 12), malignancy (n = 9), pancreatitis (n = 7), hepatic cirrhosis (n = 5), @PHENOTYPICFEATURE$ (n = 4), atelectasis (n = 3), pulmonary embolism (n = 3), trauma (n = 1), and surgery (n = 1).	false
+d9902320fda1ee5ad8c48db6b33aaaa26cb43fe5	Diagnoses were Kaposi's sarcoma, 19 patients; para-pneumonic effusion, 16 patients; tuberculosis, eight patients; @DISEASE$, six patients; lymphoma, four patients; pulmonary embolus, two patients; and @PHENOTYPICFEATURE$, aspergillus/leishmaniasis, and Cryptococcus neoformans, one case each.	false
+a25ac01071f2d8981c4909d86caf173b18319fa4	Major toxicity included nausea, vomiting, myelosuppression, high incidence of @DISEASE$ (5 patients) and @PHENOTYPICFEATURE$ (4 patients).	false
+bbf2125a5ff861234f88892c206be7e9811456fe	It is noteworthy that the father of the proband carries a de novo @PHENOTYPICFEATURE$, the first described for @DISEASE$.	false
+ff22ac66c27f09839b388fd78727e2e76e2db534	@DISEASE$, like ovarian cancer, usually causes non-specific @PHENOTYPICFEATURE$, and often presents at a late stage.	false
+23048bac34a248a483102659b354a71204da4c0b	@DISEASE$ is a syndrome comprising spastic paraparesis, polyneuropathy, primary adrenocortical insufficiency and variable @PHENOTYPICFEATURE$.	false
+2df8673ad5a9fcbdabda2d2d3fc87c6ccad9fc44	Isolated sulfite oxidase deficiency (@DISEASE$) causes severe @PHENOTYPICFEATURE$, epilepsy, and shortened life expectancy.	false
+72603801b86cc94021c1f8dd4395f5dd5086d63d	@DISEASE$ (ISOD) causes severe @PHENOTYPICFEATURE$, epilepsy, and shortened life expectancy.	false
+7bffe7be6830bd5401ca6e4ac53df51a79f80617	The clinical manifestations are indistinguishable from those of @DISEASE$: craniofacial alterations, intractable neonatal convulsions, very @PHENOTYPICFEATURE$, lens dislocation, and death in the first decade of life.	false
+87f3c30aa87a1584b5341a3ebb94365265de4730	@DISEASE$ is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, @PHENOTYPICFEATURE$, and dislocation of the ocular lenses, that often leads to death in infancy.	false
+fa2be1e141e40708b08b6986f8071f9c525dcccc	[Therapy of @PHENOTYPICFEATURE$ epiphysaria and @DISEASE$ by the Beck's drilling-operation].	false
+e80899a5f1f01f31c5832c173c726b467c17bc82	Associated conditions such as hypopigmentation, small-joint laxity, arachnodactyly, seizure disorder, optic atrophy, congenital heart disease, @DISEASE$, hirsutism, astigmatism/amblyopia, @PHENOTYPICFEATURE$ and neuropsychiatric disturbances dictate the effects of a contiguous gene syndrome.	false
+5fb612b5c34db80178b9157ae25b370caac69a5d	[Nailing to accelerate healing in aseptic osteonecrosis of the coxal extremity of the femur, as in so-called @PHENOTYPICFEATURE$ adolescentum and @DISEASE$].	false
+fbdff5bb5211eff9b503483098e08b1905b8d84b	The co-occurrence of @PHENOTYPICFEATURE$ and @DISEASE$ (LCPD) in members of the same family has been previously recorded only in two Hungarian brothers.	false
+d8e476025141c419d66cf2e85c46e82c90a571d5	Congenital @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4d7f00adcc1f864713692654438483534836255e	In @DISEASE$ (LCPD), 4 major patterns (coxa plana, coxa magna, @PHENOTYPICFEATURE$, subluxation) of the femoral head are commonly observed.	false
+223a29a53f64de1ee57083b25ca13e5f2f36cd76	Mutations in FGD1 cause @DISEASE$ (AAS), an X-linked condition characterized by @PHENOTYPICFEATURE$, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation.	false
+8a8871e828199681f500969aabed7cb5ebe9a4f3	The patient's evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, @PHENOTYPICFEATURE$ and, later, glucosuria (@DISEASE$), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome.	false
+6e7420eee2238d0a04ec7b64c8faff67c38624cf	We report a 22-year-old male with a severe form of OCRL syndrome, diagnosed on the basis of congenital cataracts, severe psychomotor and @PHENOTYPICFEATURE$, and renal tubular dysfunction without @DISEASE$.	false
+2a08feac0c63158e792d495adb3f9facc113cffe	Significant tubular damage was defined when at least two of these parameters were repeatedly present, being at least one part of the @DISEASE$ criteria (glucosuria, @PHENOTYPICFEATURE$ and hyperphosphaturia).	false
+99817eacf97c4e9d57cdaed85ad6e9451431e80b	It presents cataracts and glaucoma, delay in neuropsychomotor development, @PHENOTYPICFEATURE$, and renal @DISEASE$.	false
+5e3583c46bf1cb49656b07ee0ca4c5b0c2bb3e06	Renal involvement includes @PHENOTYPICFEATURE$ (mostly few cortical cysts), a solitary kidney, pelvi-caliceal abnormalities, hypokalemia and hypomagnesemia related to tubular leak, and more rarely, @DISEASE$ and chromophobe renal carcinoma.	false
+1ae3b808af02ec626dec818b7b1de5994b4ff325	Further investigations showed hypophosphataemia, renal phosphate wasting, hypokalaemia, mild metabolic acidosis, alkaline urine pH, hypouricaemia and @PHENOTYPICFEATURE$, all compatible with a proximal renal tubular defect (@DISEASE$).	false
+7248897aa678310ce86b7a39fa77f2a4db288c88	Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, @PHENOTYPICFEATURE$, renal tubular acidosis, Bartter-like syndrome, @DISEASE$, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms.	false
+e5babeb8566b541315919ef22b256390c03cfaae	The most common symptoms presented at hospitalization were @PHENOTYPICFEATURE$, and acute kidney injury was accompanied by @DISEASE$ in almost half of the patients.	false
+3dba758fbc618524f4a53298768fc26029352996	Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, @PHENOTYPICFEATURE$, diarrhea, hepatomegaly, ascites, jaundice, renal @DISEASE$, or conditions such as rickets and hepatocellular carcinoma.1	false
+c58c1b41bb6033c97b4c63fbd8b98dd26ef9a80e	Depending on which monoclonal LC is expressed, this model mimics either cast myeloma @PHENOTYPICFEATURE$ or the pathological condition defined as myeloma-associated @DISEASE$ (FS) with LC crystallization.	false
+1404667281301f6db60a2592f84562802f8b12cd	We report on a patient with CD and @DISEASE$ in whom a unique de novo germline missense @PHENOTYPICFEATURE$ is present in the PTEN gene.	false
+162c76e8e3d3baeda362d6c882584cabe9aa4a6b	Postoperative cerebellar @PHENOTYPICFEATURE$ in adult patients with @DISEASE$.	false
+10295f72ad9f900516eb4128e8c5aaa83b9ecc4b	The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined hyperlipidemia, @DISEASE$, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, @PHENOTYPICFEATURE$, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs.	false
+b5eb6ad5987b771fae09f75832cc909e56fc5303	Support for this hypothesis comes both from in vitro experiments and from recent observations in normal subjects and patients with dyslipidemia associated with familial hypercholesterolemia, @PHENOTYPICFEATURE$, noninsulin dependent diabetes mellitus, growth hormone deficiency and @DISEASE$.	false
+43b14a4e23df89d3541369c63e09469a434fe314	@DISEASE$ (WS) is caused by autosomal dominant @PHENOTYPICFEATURE$, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues.	false
+8787223013bf5c220a54921fdd1bbe2a5875883f	Some had anterior segment abnormalities such as corneal opacities (0.5%) and allergic conjunctivitis (3.4%) while others had posterior segment abnormalities like @PHENOTYPICFEATURE$ (0.3%), @DISEASE$ (0.6%) and Ushers syndrome (0.6%).	false
+bf12e4c748e561deb3be4088ed9ea712fbf75b8b	Several neuro-ophthalmological diseases have recently been studied in this way; including Leber's hereditary optic neuropathy and other mitochondrial diseases, autosomal dominant (Kjer) @PHENOTYPICFEATURE$, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: aniridia and @DISEASE$.	false
+bba197caa0634dce7058a682cd0443d561e8b831	Several neuro-ophthalmological diseases have recently been studied in this way; including Leber's hereditary optic neuropathy and other mitochondrial diseases, autosomal dominant (Kjer) optic atrophy, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, @PHENOTYPICFEATURE$, and deafness), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: aniridia and @DISEASE$.	false
+9aa55c99a7f39882e92f839c1499d77c28fe6717	4H: Hypomyelination, hypogonadotropic hypogonadism and @PHENOTYPICFEATURE$; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-@DISEASE$-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.	false
+7c723433639e4dd952c57a27a30660128acb769a	We enrolled 140 patients with any of 14 syndromes (BOR syndrome, @DISEASE$, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with @PHENOTYPICFEATURE$) and identified the causative variants in 56% of the patients.	false
+feb866e3778ab209c3dc6bf66dc362757b3d6eec	To investigate @PHENOTYPICFEATURE$ in subjects with @DISEASE$.	false
+fdf476ab2c6531bfbb4ce729f8d8e0144190684e	@DISEASE$ (WS) is caused by autosomal dominant @PHENOTYPICFEATURE$, and is characterised by pigmentary anomalies and various defects of neural crest derived tissues.	false
+fa32e00c15b836de877fca45660ff38036ae79d0	The response rate was also better for patients with @DISEASE$-1-negative tumors than for those with PAI-1-positive @PHENOTYPICFEATURE$ (49% versus 35% response; OR = 0.57; 95% CI = 0.32-1.01).	false
+4818e362dfa7693537713593ca744e3601dbc135	The response rate was also better for patients with @DISEASE$-1-negative @PHENOTYPICFEATURE$ than for those with PAI-1-positive tumors (49% versus 35% response; OR = 0.57; 95% CI = 0.32-1.01).	false
+bd50789aea656fd297d49bed0c50238cc140af34	Under the circumstances of our study, in patients undergoing THA, SFICB provided the similar pain relief compared with @DISEASE$, but was associated with @PHENOTYPICFEATURE$ at 6?hours postoperatively.	false
+1028001fe9294232b13997728b57cfea53cdebde	We developed a novel application of digital PCR termed Somatic Mutation Allelic Ratio Test using Droplet Digital PCR (SMART-ddPCR) for accurate assessment of tumor @DISEASE$, and have applied this method to test the hypothesis that heritable SNPs associated with childhood acute lymphoblastic leukemia (ALL) may demonstrate @PHENOTYPICFEATURE$ PAI.	false
+0cca8a2d19f9775927144cfbef33497df7f614c6	We developed a novel application of digital PCR termed Somatic Mutation Allelic Ratio Test using Droplet Digital PCR (SMART-ddPCR) for accurate assessment of @PHENOTYPICFEATURE$ @DISEASE$, and have applied this method to test the hypothesis that heritable SNPs associated with childhood acute lymphoblastic leukemia (ALL) may demonstrate tumor PAI.	false
+10e24eb39fccee39bfba8b0512950665305c1f07	We describe a patient who presented with neonatal liver and pancreatic insufficiency, @DISEASE$ and hyperammonemia and later developed @PHENOTYPICFEATURE$ and Leigh syndrome.	false
+232a3e3f4a03927c0f6ae1fe292e6e9a2c3d94ee	We present two siblings with @DISEASE$, with an emphasis on the neurological profile in this disease, which includes brain malformations, intractable epilepsy, sensory deficits, profound @PHENOTYPICFEATURE$, and neuroendocrine dysfunction.	false
+561dad0caf7a895756e3006185ee5721fa1d1178	LVHT is associated with diastolic or systolic dysfunction, thromboembolic complications, and arrhythmias, including atrial fibrillation, @PHENOTYPICFEATURE$, atrioventricular block and @DISEASE$.	false
+5012a5a1993af57b5b6f48ffb6f91cf7732fa874	Malignant @PHENOTYPICFEATURE$ in the @DISEASE$ during amiodarone treatment.	false
+093ab7f3a7fc34eb4e374acc753e9aca37019966	Wolff-Parkinson-White (@DISEASE$) syndrome and @PHENOTYPICFEATURE$ were reported in a high proportion of patients with this mutation.	false
+c088f089bd6ecd8e7523710ea997661198a49ccd	We present a @DISEASE$ syndrome case that presented to the emergency service with narrow QRS tachycardia and later developed malignant @PHENOTYPICFEATURE$.	false
+5862829b43554102543e9e75a7ccc668a9d95355	The noncompacted ventricular myocardium may be accompanied by depressed ventricular function, systemic embolism, @DISEASE$, left bundle branch block, and @PHENOTYPICFEATURE$.	false
+628168051c938325d9198123d2746650fa7f91d0	The most common clinical manifestations include heart failure, arrhythmias and embolic events, and in children it may be associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+754c2f43546cf0895eb77d87e2defd8cdd6f9ec2	Two patients with the mutation were identified; both had LS, @PHENOTYPICFEATURE$ and a @DISEASE$ (WPWS)-like cardiac conduction defect.	false
+ea70ea4072ce6a1ebbc4fef82a048fc1dd5e99bd	In particular, the incidence of supraventricular and @PHENOTYPICFEATURE$ in patients with @DISEASE$-syndrome, their prognostic impact and therapeutic options are outlined.	false
+628168051c938325d9198123d2746650fa7f91d0	The most common clinical manifestations include heart failure, arrhythmias and embolic events, and in children it may be associated with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d77e1605aab5949caf2ccc1a9cd9bbbdad1eefab	Successful radiofrequency ablation of a Fabry disease patient with @DISEASE$ and @PHENOTYPICFEATURE$ is described in the present report.	false
+0540d8dd56a36202c0b5562b0a8615dfdeec4677	We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural @PHENOTYPICFEATURE$, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of @DISEASE$.	false
+43401e0415ce589b0a38c539be381e22106991df	Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, @PHENOTYPICFEATURE$, encephalopathy, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of @DISEASE$.	false
+9d3486d8682d66aac50624dff2993597db501fc0	Using exome sequencing, we identify SERAC1 mutations as the cause of @DISEASE$, a recessive disorder of dystonia and @PHENOTYPICFEATURE$ with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria.	false
+7bd25b8450de1b48d902a68f9df1e6e92397ce7f	The most common causes for an @DISEASE$ are gastrointestinal infections and @PHENOTYPICFEATURE$ and discontinuation of glucocorticoid therapy.	false
+54119e2f9f16db7ad199c7a296a8a5b97a427cc8	In at least 4 children, clinical deterioration was caused by @PHENOTYPICFEATURE$ and dehydration from a presumed viral illness, which appeared to precipitate @DISEASE$.	false
+bbb01b52a6b92f8a55a4c4472d78ee574c2da6ee	@DISEASE$ is a medical emergency with acute symptoms: nausea, vomiting, abdominal pain, @PHENOTYPICFEATURE$, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure.	false
+f9329e814c4ab098a9378c16e2a00e16ea80cef0	Vasodepressor syncope, orthostatic hypotension, @DISEASE$, hyperventilation, asthma, heart failure and acute pulmonary edema, cerebrovascular accident seizures, @PHENOTYPICFEATURE$, hypoglycemia, myocardial infarction, angina pectoris, and anaphylaxis will be emphasized.	false
+b1d14d2498062abd3b3959ebda80d5003154d68e	On admission to the ICU in September 2001, the patient suffered from a ketoacidotic, @PHENOTYPICFEATURE$ coma and @DISEASE$ due to an Enterobacter-cloacae sepsis, originating from multiple, necrotising deep cutaneous ulcers.	false
+d128f236bf1c97546469c5d5560be52f78040d0f	This case is a rare example in clinical practice of multiple pituitary hormone deficiency, that despite typical symptoms such as @PHENOTYPICFEATURE$, adrenal insufficiency (hypoglycemia, hyponatremia, and low blood pressure), or delayed puberty, was diagnosed only after the development of @DISEASE$ (severe symptomatic hyponatremia and hypoglycemia).	false
+afc86b0eb7e79eca6f0e92e4d11629bbadde2fd8	Orthostatic hypotension, @PHENOTYPICFEATURE$, and hypoglycemia characterize acute @DISEASE$, whereas chronic primary adrenal insufficiency presents with a more insidious history of malaise, anorexia, diarrhea, weight loss, joint, and back pain.	false
+b7263c906a84859a54970956dea88b769922769f	Congenital adrenal hyperplasia (CAH) is well recognized as a disorder which can result in virilization of females, accelerated skeletal maturation and resultant adult @PHENOTYPICFEATURE$ in both genders, and, in certain varieties, life-threatening @DISEASE$.	false
+dc87be2d1b99cfc8f244a3780bfe38d71c5f93b2	The paper highlights anatomical and radiologicalaspects of @PHENOTYPICFEATURE$ and emphasizes the significance of the educationof both general practitioners and paediatricians as regards referring patients withdiagnosed @DISEASE$ for a multi-specialty therapy.	false
+36689e767e9a1d2b29cb4ff5d160fc52847cd5aa	Concurrent existence of multiple developmental @PHENOTYPICFEATURE$: hypodontia of permanent mandibular incisors, @DISEASE$, transmigration, root dilaceration, ectopic eruption and delayed eruption combined with systemic abnormalities including joint hyperlaxity and skin hyperextensibility aided in diagnosis of a sporadic case of hypermobility type of Ehlers-Danlos syndrome in a Jordanian Arab male.	false
+9322e518f5b5c2befc39879defb2e95ba7206432	@PHENOTYPICFEATURE$ were divided into four types: (a) shape (including fusion, taurodontism, and dens invagination); (b) number (including hypodontia, oligodontia, and hyperdontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta, and @DISEASE$); and (d) position (including displacement, impaction, and dilacerations).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+96f7c53b3f82878f256bfedca23124d1dc6730eb	The underlying etiology of cirrhosis in children may often differ from adults owing to specific disease processes that manifest in childhood, including biliary atresia, @DISEASE$, and neonatal @PHENOTYPICFEATURE$.	false
+d6f2cdf65e40f8b24d041d518ffb55813e8fdb52	Fulminant hepatitis B and neonatal @PHENOTYPICFEATURE$ with @DISEASE$-like presentation.	false
+0a488427c53c525a6786d4ffc7eceae6a78b3bfe	In this review, only the diseases with diagnostic, therapeutic or prognostic peculiarities are commented, including extrahepatic biliary atresia, idiopathic neonatal @PHENOTYPICFEATURE$, @DISEASE$, and Alagille s syndrome.	false
+7ec5f93e335fd43576e36118199f571b5c98b36a	Congenital diaphragmatic hernia associated with @DISEASE$, and @PHENOTYPICFEATURE$ in a premature newborn.	false
+d7bde0158c49b18ae7d7919e64b5ca55e03f1163	These defects were neural tube defects (575 patients), @PHENOTYPICFEATURE$ (633 patients), omphalocele (141 patients), @DISEASE$ (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients).	false
+7666aa2123dd4d7c47cbb726ab18b22d11d00c09	@PHENOTYPICFEATURE$ and sensory features at initial presentation of @DISEASE$: an issue to recognize.	false
+e90467c517c1c5986fea00918e61a153e0753211	@DISEASE$ is a rare disease characterized by @PHENOTYPICFEATURE$ episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital insensitivity to pain.	false
+4f0edad3573b6e593c0535ba21e329dc80645a1f	Congenital insensitivity to pain with anhidrosis (CIPA) or @DISEASE$ is a rare, autosomal recessive neurologic disorder, characterized by absence of reaction to painful stimuli, mental retardation, self- mutilating behavior, anhidrosis, and recurrent episodes of @PHENOTYPICFEATURE$.	false
+43b8a18048392f1d511a41ddf796574b9018bea2	[Familial circumscribed plantar keratosis with @PHENOTYPICFEATURE$ and sporadic @DISEASE$].	false
+f08e516a9518d6eeb12c63ccd46c0722c5688b5a	Overall, 184 (37%) presented allergic reactions with plaque elevation in 32.2%, excessive @PHENOTYPICFEATURE$ in 3.7%, and ulceration in 1.4%, predominantly observed in red tattoos and nuances of red; 66 (13%) presented papulo-nodular reactions, mainly observed in black tattoos (considered non-allergic) and due to pigment agglomeration; 53 (11%) had bacterial infections; 46 (9%) were psycho-social complications; 144 (30%) belonged to several specific diagnostic entities, including photosensitivity, @DISEASE$, and lymphopathy.	false
+5a043aa013026d748bfb49e5c1d5319ec4519f3b	Parry-Romberg syndrome is a rare condition characterized by progressive, hemifacial atrophy, @PHENOTYPICFEATURE$, enophthalmos, retinal vasculopathy occasionally associated with hemicranial @DISEASE$ (secondary trigeminal neuralgia).	false
+931889007978a8b0d6bf572293b1ddd4356b3de8	Except for one patient who presented with post-traumatic, left upper limb chronic regional @DISEASE$ (CRPS), the rest presented with craniofacial, palmar and axillary @PHENOTYPICFEATURE$.	false
+6a6add6373f19558abd30e24f9f77accef6a4cf8	MR imaging is able to show marrow involvement in various inflammatory disorders and to diagnose reactive marrow @PHENOTYPICFEATURE$ from femoroacetabular impingment and greater trochanteric @DISEASE$.	false
+73bca0446850aa77acfa6fdc398db77d6be0031d	Complex regional pain syndrome is a neuropathic @DISEASE$ that is characterized by: severe pain beyond the area of injury; autonomic dysregulation; neurogenic @PHENOTYPICFEATURE$; movement disorder; and atrophy and dystrophy.	false
+af904c3300612f9922250144fb9ef23d98ee8689	The association of myocardial squeezing of the LAD with different diagnosis was anterior chest @DISEASE$ (26.6%), @PHENOTYPICFEATURE$ (23.6%), cardiomyopathy (21.7%), angina pectoris (15.8%) and myocardial infarction (6.9%).	false
+7ef7561c4b9bb36fc660b5574870815865c0b5b1	An @PHENOTYPICFEATURE$ of the infrapatellar fat pad following knee arthroscopy or in case of chronic anterior knee @DISEASE$ is suspected to increase the patellofemoral pressure by a modification of the patellofemoral glide mechanism.	false
+81a08d4ec3cf09b747bcd54d23826dd71d5b3a80	CRPS, known formerly as reflex sympathetic dystrophy or RSD, causalgia, or reflex neurovascular dystrophy, is a severe, progressive musculoskeletal @DISEASE$ characterized by pain which is disproportionate to the severity of the inciting event, @PHENOTYPICFEATURE$, or skin changes.	false
+545f61ac946c5fea58e216d3c5a3db3a1c1a4606	Post-transplant distal limb bone marrow @PHENOTYPICFEATURE$ syndrome or calcineurin inhibitor-induced @DISEASE$ (CIPS) is generally a self-limiting but debilitating acute pain syndrome that has been reported in 2-14?% of renal transplant recipients.	false
+4dcadfb76abd834a23ff5bbd68a47af3a9e0090e	The quantitative evaluation of persistent dysfunction of the cardiovascular system related to circulatory disturbances included in ICD class IX and to those referred to other classes is based mainly on an assessment of the following clinical and functional manifestations: @DISEASE$ (cardialgia or angina); hypertensive syndrome; pulmonary hypertension; @PHENOTYPICFEATURE$; syncope.	false
+c0f81d688affb1dfb4d9e5a0dd151ca61496f5a9	@PHENOTYPICFEATURE$ and corneal lesions were characteristic in symptoms of @DISEASE$ II, but attention should be paid to the symptoms of the central nervous system.	false
+355a3437e7a2a63bde5e69f959de6a6c342dea36	Corneal neovascularization (NV) is a condition that can develop in response to inflammation, hypoxia, trauma, or @DISEASE$ and it is a significant cause of @PHENOTYPICFEATURE$.	false
+cc11782316f81a291a5fa09fa18a62cb33bcdcb8	Corneal @PHENOTYPICFEATURE$ caused by @DISEASE$ (LSCD) is one of the most common debilitating eye disorders.	false
+40f5c98b5305ccc5c3398b3f6bccefa7d46d703f	Corneal @PHENOTYPICFEATURE$ caused by @DISEASE$ (LSCD) is a prevailing disorder worldwide.	false
+0885f5faafaf435af6bab0bcd9e1908eaa893cd2	@DISEASE$ (LSCD) can lead to corneal opacity and vascularization, with consequent visual impairment or @PHENOTYPICFEATURE$.	false
+524705673c7016f4cf397c390ce3bf34c55d984e	@DISEASE$ (LSCD) is one of the serious cause of visual impairment and @PHENOTYPICFEATURE$ with loss of corneal clarity and vascularization.	false
+cf9486c38b3f502ac8950fc67292e469c8d9691f	Corneal @PHENOTYPICFEATURE$ due to @DISEASE$ can be treated by transplantation of cultivated limbal epithelial stem cells (LESCs).	false
+08569b542dbe3c5ca66536716561e10347d8dfdd	To report the clinical outcomes of allogeneic cell-based therapy for bilateral corneal @PHENOTYPICFEATURE$ due to @DISEASE$ (LSCD).	false
+c05b2a89f4c3f7dc6b497cffeede8f104bfe7b13	@DISEASE$ is a rare syndrome including Potter sequence, renal anomalies, @PHENOTYPICFEATURE$, cleft palate with other oropharyngeal anomalies.	false
+c8646d0427a245320228db4c8c6e549b7f28dcfa	@DISEASE$ is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and @PHENOTYPICFEATURE$.	false
+c7739459c161d5fba139f03f636942413679c287	Herein, a newborn infant with @DISEASE$ with secundum atrial septal defect who had a de novo @PHENOTYPICFEATURE$ (c.953G > A) on exon 7 of p63 gene is presented.	false
+bbe58a3a3c2d6a0322f49c867e93fc606f28dc70	@DISEASE$ with a de novo @PHENOTYPICFEATURE$ (c.953g > a) on exon 7 of P63 gene: a case report.	false
+67af9214f608a14d65b6f414f13facb10464b079	A de novo @PHENOTYPICFEATURE$ (R279C) in the P63 gene in a patient with @DISEASE$.	false
+6dd858a0d905c0fa80513f7f927aec3c825436a6	Ventricular aneurysm, @PHENOTYPICFEATURE$ and open heart operation in a patient with @DISEASE$.	false
+9e65b5a1d2b378372982160ccda4aeb7f62c17f1	Although atrial fibrillation is one of the most frequent and widespread @PHENOTYPICFEATURE$, there is not sufficient data on frequency and electrical cardioversion of this arrhythmia in cases of @DISEASE$.	false
+d606fe56378b2f1687f241a4407265924f164c3d	Only 5 cases (fetus, 1; neonates, 3; child, 1) of @PHENOTYPICFEATURE$ with @DISEASE$ or situs inversus have been reported.	false
+231e97b5bc0ec9b147feff304e1ade4fc7459e32	@PHENOTYPICFEATURE$ was mainly confined to patients with @DISEASE$ or AIDS.	false
+b69d8f80eba5c5ddc7ed8395d33f93b87dcacca0	Chronic corneal exposure from @DISEASE$ may lead to severe dry eye, ulcerative @PHENOTYPICFEATURE$, or perforation.	false
+b33969272e7a7d44a93cdf859aad0cfa6386fb46	At initial biopsy, only 50% of the AIDS/@DISEASE$ patients with EFH/mixed compared to 100% with FI/LD were symptomatic with @PHENOTYPICFEATURE$, night sweats, diarrhea, fever, or fatigue.	false
+e8d4a27c27c85daa4fdeb3bea3c3a37ec26d2e01	A total sample of 275 participants were enrolled into the study: group A, 94 subjects elligible for @DISEASE$ surgery, and group B, 181 volunteers without ocular symptoms, gender-, age-, and smoking- status and volume-matched at 1:2 with subjects in group A. All participants (n=275) were divided according to the Lens Opacities Classification System III (LOCS III) into: 1) study group (subjects with clinically significant cataract; N?3 or C?3 or P?2), 2) control group (controls with clinically non-significant @PHENOTYPICFEATURE$; N<3 and C<3 and P<2).	false
+04640f59955b7f5ebc278e4bf3cd5f6dce6ae530	A total sample of 275 participants were enrolled into the study: group A, 94 subjects elligible for @DISEASE$ surgery, and group B, 181 volunteers without ocular symptoms, gender-, age-, and smoking- status and volume-matched at 1:2 with subjects in group A. All participants (n=275) were divided according to the Lens Opacities Classification System III (LOCS III) into: 1) study group (subjects with clinically significant @PHENOTYPICFEATURE$; N?3 or C?3 or P?2), 2) control group (controls with clinically non-significant cataract; N<3 and C<3 and P<2).	false
+cc1180f314914a114a8f7e6cac58f1a96fe890e3	The anterior lens capsule specimens from 360 normal human donor eyes (age 19-91 years) were divided into three groups: group A of young lens (younger than age 49 without @PHENOTYPICFEATURE$), group B of old but normal lens (older than age 50 without cataract), and group C of ARC lens (older than age 50 with @DISEASE$).	false
+a73623c9a8a0b3fd13857e81b248a20bdba254b3	The anterior lens capsule specimens from 360 normal human donor eyes (age 19-91 years) were divided into three groups: group A of young lens (younger than age 49 without cataract), group B of old but normal lens (older than age 50 without @PHENOTYPICFEATURE$), and group C of ARC lens (older than age 50 with @DISEASE$).	false
+f32794ccccf769092870ef609dbc5fa0ceef5929	Visual functions (including visual acuity, visual evoke potential, and contrast sensitivity), the Mini-Mental State Examination and functional magnetic resonance imaging (including the fractional amplitude of low-frequency fluctuations and grey matter volume variation) were assessed for all the participants and reexamined for @DISEASE$ patients after @PHENOTYPICFEATURE$ surgery.	false
+b2f4dfa9672927eed0f7b5c6eb7c561e7fddad32	The results show that WRN-rs11574311 was initially associated with @DISEASE$ in general, cortical, and mixed @PHENOTYPICFEATURE$ (P = 0.003, odds ratio [OR] = 1.49;	false
+2f68dfb76696b54253a3825fbec226a3ffd8102b	The presence of a Peters' anomaly, mental retardation, disproportionate short stature, @PHENOTYPICFEATURE$ and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of @DISEASE$.	false
+0ff5ca3bfd35ba6c67afbbf4a8f07c8912eaabc2	Exposure to valproic acid monotherapy was recorded for a total of 180 registrations, with 122 registrations in the case group, 45 in control group 1, and 13 in control group 2. As compared with no use of an antiepileptic drug during the first trimester (control group 1), use of valproic acid monotherapy was associated with significantly increased risks for 6 of the 14 malformations under consideration; the adjusted odds ratios were as follows: spina bifida, 12.7 (95% confidence interval [CI], 7.7 to 20.7); atrial septal defect, 2.5 (95% CI, 1.4 to 4.4); cleft palate, 5.2 (95% CI, 2.8 to 9.9); hypospadias, 4.8 (95% CI, 2.9 to 8.1); @PHENOTYPICFEATURE$, 2.2 (95% CI, 1.0 to 4.5); and @DISEASE$.8 (95% CI, 1.8 to 18.8).	false
+b9ccda9a902b6a55a97b34b26d2b910d897403be	Our study included more than 700 Polish parents from a diverse educational background who had children with disabilities, including mild intellectual disability (MID) and @PHENOTYPICFEATURE$ (@DISEASE$), or typically developing children.	false
+9a66fe4f8231c11d088bd30e031072bbfb1182b2	Congenital @PHENOTYPICFEATURE$ (@DISEASE$) is the most common sensory impairment and can be isolated or part of a syndrome.	false
+093281b138659062a4980b3cd6f4eafd99f55a1b	Postlingually acquired @PHENOTYPICFEATURE$ (@DISEASE$) is associated with changes in the representation of sound in semantic long-term memory.	false
+4a8ffbe9ffad515a130b8546ab84c5dd41315145	The differential diagnosis included iris pigmented @PHENOTYPICFEATURE$ and @DISEASE$ (Cogan-Reese syndrome).	false
+5549071e04e55b9b1ad94c36f02e3eed5f8dfd1e	Nevertheless, potentially meaningful changes have already been observed in corneal dystrophies (Meesmann's dystrophy, posterior polymorphous dystrophy and @DISEASE$), degenerations (pterygium) and inflammatory diseases (Pseudomonas keratitis), in opacification of the lens (anterior subcapsular and secondary cataract), in diseases characterized by proliferation of the retinal pigment epithelium (macular degeneration and proliferative vitreoretinopathy), and in intraocular @PHENOTYPICFEATURE$ (uveal melanoma).	false
+4f52d350c74ee7e82d411ac6df6112e62f342637	The ocular manifestations in @DISEASE$ include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, @PHENOTYPICFEATURE$ and nystagmus.	false
+4ccb1d3a846357a02c8c77e02ec6a70457f33dc2	@DISEASE$ and trichoblastoma were the most common @PHENOTYPICFEATURE$ arising on SN.	false
+dce54fea99a31f517ef006a9f3d76e887b3daef3	@DISEASE$ occurs alone or in association with other @PHENOTYPICFEATURE$.	false
+2d94077eb50cb73252fa9ad5ad9c8e7411103ef4	@DISEASE$ (SCP) is a rare, benign, adnexal @PHENOTYPICFEATURE$ of apocrine or eccrine differentiation.	false
+85bfe7256132c54ae83c9c229799b744d6af40a0	@DISEASE$ (SCAP) occurs singly or in association with other @PHENOTYPICFEATURE$.	false
+218b042e063ee3979345ce72e166563f8314d68c	Cytological diagnosis of @DISEASE$ a rare adnexal @PHENOTYPICFEATURE$.	false
+204529ce547afa6998a1e31804ec644c69f13e4b	@DISEASE$ (SCAP) and verrucous cyst are two uncommon benign @PHENOTYPICFEATURE$.	false
+a4441461d0bff376ee229d6177153a8fec42cc7a	@DISEASE$ is a rare benign hamartomatous adnexal @PHENOTYPICFEATURE$ of the apocrine or eccrine sweat glands.	false
+b473d2c7115d45c14b5fbc7cefddc17c19e30450	@DISEASE$ is an uncommon benign adnexal @PHENOTYPICFEATURE$ occurring most commonly on scalp and face.	false
+66cde2710949bc0a49863da6a62c65c4651cebec	@DISEASE$ is a rare benign adnexal @PHENOTYPICFEATURE$ that frequently shows apocrine differentiation.	false
+3da41a9220f02997b2d8be1a5c726c66afaf9279	@DISEASE$: a study of potential @PHENOTYPICFEATURE$ suppressor genes.	false
+54a5da4ef3bfd31de3a14f9b7c3f0768631c245d	The characteristics of patients with acute neuronopathic- and chronic neuronopathic-type @DISEASE$ include @PHENOTYPICFEATURE$, bulbar signs, limb rigidity, seizures and occasional choreoathetoid movements, and neuronal loss.	false
+04ee78fb7573faccd6b3c87ba910555431dc5dd3	Cochlear implants may be useful for @PHENOTYPICFEATURE$ in patients with @DISEASE$ without neurological symptoms other than hearing loss.	false
+07b04ae75968aa73e7e38920398a7ed9eff023bb	These responses were comparable with or greater than the published effects of various treatments for multiple sclerosis, rheumatoid arthritis, central neuropathic @PHENOTYPICFEATURE$, and @DISEASE$.	false
+51099b44d7ef96d6f51d9cdb9ca34b72e8fe9ce3	The hallmark of neuronopathic @DISEASE$ (GD) is @PHENOTYPICFEATURE$, but ophthalmological assessment is difficult in uncooperative patients.	false
+c0dd0b3cf6ab84361dc8ce1521f180f7e2c4bdd1	Sonographic applications to osteomyelitis, myositis ossificans, tropic pyomyositis, child abuse, synovitis, and slipped capital femoral epiphyses; MR imaging (including gadolinium-enhanced MR scans) in osteomyelitis, the normal and abnormal physis, physeal bars, normal marrow, @DISEASE$, cancer, dysplasia epiphysealis hemimelica, myositis, tenosynovitis, arthritis, and @PHENOTYPICFEATURE$; nuclear imaging in osteomyelitis, tibia valga, limp, and unexplained lower extremity pain; and CT in osteomyelitis, are reviewed.	false
+455cfe7b9671f3a7f08cdcf758f2cae06ebad05a	These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, @DISEASE$, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic @PHENOTYPICFEATURE$, familial Mediterranean fever, and glycogen storage disease type III.	false
+679449ca254c36b37d8c3ea29df4551aefc6b0db	We describe a Japanese boy with @DISEASE$ type 1 who developed bilateral profound @PHENOTYPICFEATURE$ within approximately 4years.	false
+3d0e73a10bb776d341482837eaca99e41f813df1	A 16-year-old girl with type III @DISEASE$ experienced @PHENOTYPICFEATURE$ in both eyes.	false
+92abcc88b9842fa8166b29015ab7e0083935c583	Skeletal @PHENOTYPICFEATURE$ and the resulting skeletal complications are common in @DISEASE$.	false
+40bbd3e26bcbd10f420319f24f57f5d8cc21767d	Fabry Disease (FD), the second most common lysosomal storage disorder after @DISEASE$, is characterized by variable clinical manifestations, including angiokeratoma, corneal dystrophy, recurrent episodes of extremity @PHENOTYPICFEATURE$, renal impairment, cardiac complications and cerebrovascular manifestations.	false
+987d654d98a1e5c89f7742fe55e8026df5a063f4	In a mouse model of @DISEASE$ deficiency, "glaucoma-like" @PHENOTYPICFEATURE$ were observed as well as developmental defects in the eye.	false
+484e9d65d1a10ff086d04a78dca52bd90bd19967	In a mouse model of @DISEASE$ deficiency, "@PHENOTYPICFEATURE$-like" optic nerve abnormalities were observed as well as developmental defects in the eye.	false
+11331d4d1ff2538ab545ccae06a0d991099fd2b7	Stage 4a is traction/combined rhegmatogenous retinal detachment whereas 4b is rubeosis iridis, @DISEASE$, complicated cataract, and @PHENOTYPICFEATURE$.	false
+f7d1df3179952f003ba03dea45a3cd3c1b2c49d5	A 37-year-old white man with a history of @PHENOTYPICFEATURE$ since childhood was enucleated for @DISEASE$ because of intractable pain in his right eye.	false
+7c590a527120c0495a2b9e7d6d002bc7ac24dcf6	Rapid progression to bilateral @PHENOTYPICFEATURE$ resulting from @DISEASE$ within a few weeks of presentation following coronary artery bypass graft is not a common presentation with this clinical entity.	false
+e11481ab0ab2811bd642cbc678b3e2db53d84518	Complications of the inflammation can include retinal and @PHENOTYPICFEATURE$, vitreous hemorrhage, @DISEASE$, and retinal detachment.	false
+b67821394a0b5ca2e66c5776bee4514697a9e610	5.0% (1/20) had @DISEASE$; 5.0% (1/20) had @PHENOTYPICFEATURE$.	false
+c0a8d0fd3d5a59af03abb05f60c39f1287296f6b	Field loss, @DISEASE$, @PHENOTYPICFEATURE$, Parinaud syndrome, hemiparesis, hemiplegia, and proptosis may be associated with RAC.	false
+669dffe9218760d532b9cbdb00ebbb67a22d4136	In this case report, early detection of the iris neovascularization, goniophotocoagulation, and carotid operation were successful in the prevention of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+53b4b5673c3df24e6360c27290075a7c8026176b	In 21% of cases there were episodes of transient @PHENOTYPICFEATURE$; homonymous hemianopsia occurred in 10%, acute ischaemic optic neuropathy in 11%, and secondary @DISEASE$ in 14% of patients.	false
+84a4dca8c60707e6c520082be711cd22c3997600	Chronic findings included rubeosis irides, @DISEASE$, retinal pigmentary degeneration, and @PHENOTYPICFEATURE$.	false
+1c9a99133456c32bfc9c93e6a6e4eee97f3872d4	A 90-year-old woman presented with 1-year history of right-sided progressive proptosis, @DISEASE$, @PHENOTYPICFEATURE$, and worsening ocular pain.	false
+3c005e0f8c6eabca2c3d80fe20fddc302396ea5a	Recently, SOST (sclerostin) was identified as a potent osteocyte expressed negative regulator of bone formation in vitro, in murine models and in patients with the @PHENOTYPICFEATURE$ disorders @DISEASE$ and Van Buchem disease.	false
+c8376704c647f5068e8472a15ee130c7c095fe44	Lack of SOST expression is the cause for the progressive @PHENOTYPICFEATURE$ disorders @DISEASE$ and Van Buchem disease.	false
+71b8bd966f3eeb1e00cd07ab130285127d7360a8	Our findings suggest that SOST is an antagonist for Wnt signaling and that the loss of SOST function likely leads to the hyperactivation of Wnt signaling that underlies @PHENOTYPICFEATURE$ seen in @DISEASE$ patients.	false
+6a4ea66de3c066579dd2c9d62911a1d9714921af	Germline mutations in the PTEN/MMAC1/TEP1 @PHENOTYPICFEATURE$ suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and @DISEASE$.	false
+b79e727d117c89908bfe8ed07c2f3b0e70deefcd	Association of germline mutation in the PTEN @PHENOTYPICFEATURE$ suppressor gene and Proteus and @DISEASE$.	false
+2da787210611aafac6d0d7663e82364bac673604	PTEN gene (phosphatase and tensin homolog deleted on chromosome ten, MIM 601628) is a @PHENOTYPICFEATURE$ suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and @DISEASE$.	false
+0d1833f75c103a3b44c654fcb06de52ec2830d08	PTEN Hamartoma Tumor syndrome (PHTS) encompasses a clinical spectrum of heritable disorders including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and Proteus and @DISEASE$ that are associated with germline mutations in the PTEN @PHENOTYPICFEATURE$ suppressor gene.	false
+c40306214ca9d24c4a01119d29db63b096ffc8aa	Germline PTEN (Phosphatase and TENsin homologue deleted on chromosome TEN) mutations predispose to phenotypically diverse disorders that share several overlapping clinical features: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and @DISEASE$, collectively classified as PTEN hamartoma @PHENOTYPICFEATURE$ syndrome (PHTS).	false
+8080a8392b99e4c6e99c4759b8a41ca392ceb437	PTEN gene (MIM 601628) is a @PHENOTYPICFEATURE$ suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and @DISEASE$.	false
+010e332e92ecf2861f5ca33bf38e055e9b29c7c1	Fryns syndrome (@DISEASE$) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, @PHENOTYPICFEATURE$, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations.	false
+6f52d7e4ef788757882990b336babadd787c2a00	In Danio rerio embryos, isocyanide caused "wavy" notochords, hydrocephalus, pericardial @PHENOTYPICFEATURE$, poor blood circulation, and defects in pigmentation and hematopoiesis, which phenocopied @DISEASE$ deficiency.	false
+df0fe7ba783dc0e0686ab23060c358440eb4eb84	The present study examined possible changes in the @DISEASE$-deficient mast cell which may account for increased macromolecular leakage and @PHENOTYPICFEATURE$ formation.	false
+fd081d0ac14fab5f7d916555da194b39d07813b9	Signal abnormalities on magnetic resonance imaging might therefore, at least in the early stages, represent reversible myelinolisis or cytotoxic @PHENOTYPICFEATURE$ associated with @DISEASE$ toxicity.	false
+7696d53143563f6a965603fc11022584ec62a01a	Loss-of-function mutations in the ATP7A gene result in Menkes disease, a fatal neurodegenerative disorder resulting in seizures, hypotonia and @PHENOTYPICFEATURE$, due to systemic @DISEASE$ deficiency.	false
+0b57ec3011a5389dd87076ab9d3a2815a0a347cd	However, recovery from foot @PHENOTYPICFEATURE$ was impaired in copper-deficient animals, while marginally @DISEASE$-deficient animals recovered at the same rate as did controls.	false
+ad9143df2538e4298f52559149ec529307636204	However, recovery from foot @PHENOTYPICFEATURE$ was impaired in @DISEASE$-deficient animals, while marginally copper-deficient animals recovered at the same rate as did controls.	false
+4da79e9d4e0981450e889fb0d8a82021b1ac91b1	The effects of nutritional @DISEASE$ deficiency on carrageenin @PHENOTYPICFEATURE$ in the rat were investigated with emphasis on studying the correlation between the degree of copper deficiency and the degree of edema.	false
+ed4e30599e6bc544df0072c5c7002a7e1a63eabf	The effects of nutritional copper deficiency on carrageenin @PHENOTYPICFEATURE$ in the rat were investigated with emphasis on studying the correlation between the degree of @DISEASE$ deficiency and the degree of edema.	false
+c8c36bb0a0c62c82baa2dfdaa820197da2ca99ac	The effects of nutritional copper deficiency on carrageenin edema in the rat were investigated with emphasis on studying the correlation between the degree of @DISEASE$ deficiency and the degree of @PHENOTYPICFEATURE$.	false
+6094b6bdd49cd15bcb68e60b13c91839804fb018	The effects of nutritional @DISEASE$ deficiency on carrageenin edema in the rat were investigated with emphasis on studying the correlation between the degree of copper deficiency and the degree of @PHENOTYPICFEATURE$.	false
+a8aa1f2ad21a69bba4d1dba9bccec33ade6a0e35	Effect of nutritional @DISEASE$ deficiency on carrageenin @PHENOTYPICFEATURE$ in the rat.	false
+6b4b57493581fde1599d55a2cc171d2409979763	The characteristic features of MNK are progressive neurological degeneration, connective tissue disorders and @PHENOTYPICFEATURE$, which are caused by a reduction in the activity of several copper-dependent enzymes, due to concomitant @DISEASE$ deficiency.	false
+1fdc3510700c2452d3a4e6389b3246b1d73f335d	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+d03d101eb3b50938f2960704d0acc5663f65accd	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+9052737009ba568e0b1e99e3a27a12bf329e301b	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+03199c3e8ffb4d93a7c5f248f8412325b5fc9d0e	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+b2b96501fd5404a42addd1b3283006a2387e096c	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+445f97ed462d904438e1a6afd912662a440acedc	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+b7aa04f954bbc2df5e6bea95db28c0e070264df8	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+5fa4caf77c8d1be247be6659b3c711c4a6980fb7	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw @PHENOTYPICFEATURE$ was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+10775fb35ab2a2b7264618e1f1817b288736fd58	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+1c6c9f8278a63ada31e3bebcb172f2ed9657fca6	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+b7c9c71647fb92f5d5d03ae294c441e215b3ced5	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of @DISEASE$ deficiency.	false
+67dc6a228d383aab7e6f91e8202d287115b16aed	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of @PHENOTYPICFEATURE$, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+79c3825d2e8a6825f0f4b7a444d164b6cfafddd4	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in @DISEASE$-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+6865a7733c29c56f5dd447228fcf09d2bd4721d9	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+32b12036a7a260cd747068d20d02d7b714580926	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, copper-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw edema in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin @PHENOTYPICFEATURE$ in @DISEASE$-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+9c4b76b568ec0b388a07bef9d5c20f7f4e8728fd	Results indicated that: (1) although copper sufficient rats showed relatively little change in the degree of edema, @DISEASE$-deficient rats showed a steady and significant increase in edema from d 20 to 40 to 60; (2) paw @PHENOTYPICFEATURE$ in copper-deficient animals was highly and negatively correlated to the concentrations of copper in the liver; the correlation with liver Cu,Zn-superoxide dismutase activity, however, was inconsistent; (3) paw edema was not correlated either to copper concentration in tissues other than liver or to plasma ceruloplasmin activity; and (4) aggravation of carrageenin edema in copper-deficient animals seemed to be mediated via an as yet unknown secondary effect of copper deficiency.	false
+015a1c0f550223bac849a482d108833ae55d2bb6	Common findings included periductal fibrosis and inflammation, portal @PHENOTYPICFEATURE$ and fibrosis, focal proliferation of bile ducts and ductules, focal bile duct obliteration and loss of bile ducts, @DISEASE$ deposition, and cholestasis.	false
+7f7b8cb0ca53d4c043a2befe7fcc7db8c50623ba	Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital @DISEASE$ may be related to @PHENOTYPICFEATURE$ of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD).	false
+38904b63f972cf1d669fdf0601c92feff35b23bb	@DISEASE$ IVA (MPS IVA) is a degenerative systemic @PHENOTYPICFEATURE$, in which children exhibit marked short stature and become physically handicapped.	false
+36bb6b30ebcf956af2b8c87c330e20ce8c54f5a8	Patients with Hunter syndrome (@DISEASE$ II) present with @PHENOTYPICFEATURE$ including short stature as well as CNS and visceral organ involvement.	false
+788808ce6db851e52bad9ac703ebc518a29eb078	@DISEASE$ (MPS) causes aortic and valvular disease, Pompe disease causes cardiac @PHENOTYPICFEATURE$, and Fabry disease causes left ventricular hypertrophy.	false
+b683b2de626ab470edb279e5b5a648d08ab3f786	@DISEASE$ I and intracranial @PHENOTYPICFEATURE$ in a patient with high-pressure hydrocephalus.	false
+5bc874c8fbca2014a5dfe254832ff3474001135a	We review the importance of C-->T transitions at non-island CpGs in human disease: When these occur in the germline, they are a common cause of inherited diseases such as epidermolysis bullosa and @DISEASE$, while in the soma they are frequently found in the genes for @PHENOTYPICFEATURE$ suppressors such as p53 and the retinoblastoma protein, causing cancer.	false
+7129e76d6575992aacfc81b27e0f67d82eff0565	@DISEASE$ (MPS) is an inherited metabolic disorder of childhood, characterised by progressive multisystem involvement predominantly affecting the skeletal system leading to @PHENOTYPICFEATURE$.	false
+30009ecb975504145fd57dad239dc8b7defe9616	It has also been reported following trauma to the distal radius epiphysis @PHENOTYPICFEATURE$ @DISEASE$ (MPS) and achondroplasia.	false
+fe49385d58307757dc033a68c4b68d0f00727dc0	In this article, we present the results of the personal examination of the largest collections of Tumaco-La Tolita pottery in Colombia and Ecuador; cases of Down syndrome, achondroplasia, @DISEASE$ I H, mucopolysaccharidosis IV, a tumor of the face and a benign @PHENOTYPICFEATURE$ in an old woman were found.	false
+eb4f74310db57bf504b6787be69b8d4aef6d3971	In this article, we present the results of the personal examination of the largest collections of Tumaco-La Tolita pottery in Colombia and Ecuador; cases of Down syndrome, achondroplasia, @DISEASE$ I H, mucopolysaccharidosis IV, a @PHENOTYPICFEATURE$ of the face and a benign tumor in an old woman were found.	false
+7c45449e509dfeeb78f41e955b0d5d78cffb5003	A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (@DISEASE$) plus @PHENOTYPICFEATURE$.	false
+31e48630f6b7e8f2fba0f219c1f4dea9d07db5c8	@DISEASE$ and Al-Awadi/Raas-Rothschild/Schinzel (AA/RRS) phocomelia syndrome are rare autosomal recessive inherited disorders characterized by aplastic/@PHENOTYPICFEATURE$ with ectopic dorsal palms, absence of humeri, hypoplastic ulnae, and bowed short radii with the elbow joints present, shown to result from missense mutations in WNT7A (p.Ala109Thr and p.Arg292Cys).	false
+545b884f7f35b8455499beadf12138f4c975c57e	The prevalence of @DISEASE$ in Andeans is about 15-20%, suggesting that the majority of highlanders (non-CMS) are rather healthy at high altitudes; however, CMS subjects experience severe hypoxemia, erythrocytosis and many neurologic manifestations including migraine, headache, mental fatigue, confusion, and @PHENOTYPICFEATURE$.	false
+35dfe9a5418513f8792f8ecb4013f45ec17f4c8e	The presence of breathlessness or palpitations, @PHENOTYPICFEATURE$, cyanosis, dilatation of veins, paraesthesia, headaches, tinnitus and Hb ?21 g dl(-1) , have been included for the @DISEASE$ score.	false
+583db48d202bb929899ffd2bc1d313aadce1aba3	Diagnosis of @DISEASE$ ("Qinghai CMS Score") is based on seven signs/symptoms (breathlessness and/or palpitations, @PHENOTYPICFEATURE$, cyanosis, dilatation of veins, paresthesia, headache, tinnitus) and the score for EE.	false
+c73ca47468fc51181fe9c75925ed043ca78db23b	The aim of this study was to examine @PHENOTYPICFEATURE$ in patients with chronic mountain sickness (@DISEASE$).	false
+ae34dcfeb0c7fa0e394e50eb9db52df48799d59e	In rodents, exposure to chronic mild stress (@DISEASE$) is known to induce unresponsiveness to environmental stimuli, as well as @PHENOTYPICFEATURE$, suggesting some analogies between this syndrome and human depression.	false
+8244cbdf70e8adeb53239ad0660c45c0e5e95906	@PHENOTYPICFEATURE$ and @DISEASE$: a coincidental finding.	false
+14e7b63249781f8427a2f1966d3e90624e40c284	@PHENOTYPICFEATURE$ (SNHL) is a neurological situation and @DISEASE$ (CD) may be seen coincidentally.	false
+653e934d3a8a750b7499ae729f141736d914e4ce	@DISEASE$ patients presenting with @PHENOTYPICFEATURE$ have more severe disease than those presenting with diarrhea.	false
+c15c8244b078e04ed0a03fc93e1c05d3c348143a	@DISEASE$ patients who present with @PHENOTYPICFEATURE$ have more severe disease than those who present with diarrhea.	false
+16917fe576ccf229e60060e756995496d44a67ab	@PHENOTYPICFEATURE$ in pediatric patients with @DISEASE$.	false
+960193da5036cc48a189850f76ed336d9f5b9ba1	Sideropenic @PHENOTYPICFEATURE$ and @DISEASE$: one study, two points of view.	false
+4c355415e8d1b2beecf28f932fc8358863209ca6	Vitamin deficiencies are prevalent in @DISEASE$ (CD) and are associated with cataract formation, but it is unknown whether persons with CD are at increased risk of @PHENOTYPICFEATURE$.	false
+9c2050f430e52ad2e6a4525687d02cd5ed8b72bf	Vitamin deficiencies are prevalent in @DISEASE$ (CD) and are associated with @PHENOTYPICFEATURE$ formation, but it is unknown whether persons with CD are at increased risk of cataract.	false
+abb48fff1e86ce42545382276d47e074bf6cd31d	Tissue transglutaminase has been identified as a contributor to a wide variety of diseases, including @PHENOTYPICFEATURE$ formation and @DISEASE$.	false
+52634fbdba3bf5ab28d4ef7b6c2c074093dc8596	@DISEASE$, @PHENOTYPICFEATURE$, and dementia.	false
+be7a35929f86a8f1e3f9b09fef00c8666ba45911	@DISEASE$ and @PHENOTYPICFEATURE$ in children.	false
+5b566e6f4287220b7961856634ca0549979b484e	Recently, @DISEASE$ (AAN), characterised by severe @PHENOTYPICFEATURE$, has been identified as a cause of end stage kidney disease and proposed as a model of CKD.	false
+7dd9e3b827d101cd07fd311f8d3db0332be60086	The protective effects of a series of stable adenosine analogs against @PHENOTYPICFEATURE$ initiated by focal injection of bicuculline methiodide into the rat prepiriform cortex (@DISEASE$) were studied by microinjection of these compounds into this brain area.	false
+8d66313600457ac3df06cd1757bb9ba06908664e	Erythropoietin dose requirement in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9a0136a8bd1592f09c7a6c95aba419403d3b3bb1	@DISEASE$ is a malformation syndrome characterized by cranio-facial defects, visceral defects, @PHENOTYPICFEATURE$, hypotonia, and postnatal growth retardation.	false
+991038ccf2e9d57e307e17b65be39688882fa9ee	@DISEASE$ is a rare multiple congenital anomaly syndrome comprising agenesis of the corpus callosum, telecanthus, short palpebral fissures, abnormal ears, Pierre Robin sequence, and @PHENOTYPICFEATURE$.	false
+664750cce40414e4b86d3b37d6dc017b3b2e655a	@DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, @PHENOTYPICFEATURE$, and hypotonia.	false
+08a1faf45a98cc6bbdc7e85de57bace09ff84065	@DISEASE$ (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal @PHENOTYPICFEATURE$, cardiac defects, limb anomalies and genitourinary defects in affected males.	false
+2570afc319ac69e02c79b4a8a6f0eb8261dccb82	@DISEASE$ in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+7d6fe5177e14b82c76fd9c6dc4f7c1776a61c6ad	Toriello-Carey syndrome in a Turkish newborn: @DISEASE$ is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and @PHENOTYPICFEATURE$, brachydactyly, and hypotonia.	false
+c63ba8286830e220ca3709c7d79325866c22494c	In a recent study, infants with @DISEASE$ treated with allopurinol, but not those with other congenital cardiopathies, had significantly less number of complications than controls, including death, seizures, @PHENOTYPICFEATURE$ or cardiac events.	false
+716c106a5869ca1d8b8fec2fb184f0e140060140	In a recent study, infants with @DISEASE$ treated with allopurinol, but not those with other congenital cardiopathies, had significantly less number of complications than controls, including death, @PHENOTYPICFEATURE$, coma or cardiac events.	false
+460275333aeb0c1f5dd9356e2b1acf89c6613689	Children with @DISEASE$ complicated by a stroke or @PHENOTYPICFEATURE$ (15%) reported the lowest quality of life.	false
+08236b31637a345a130efa5402d9165fcca4b4da	Fourteen of 74 @DISEASE$ patients (19%) had mitral stenosis and @PHENOTYPICFEATURE$.	false
+de923e6d56482b1f40c2f679fd1a716337107c02	heart defects, @DISEASE$, induced hypothermia, ischemia-reperfusion injury, neuroprotective agents, allopurinol, xanthine oxidase, free radicals, @PHENOTYPICFEATURE$, coma.	false
+f9d530bcaac2f194655781ce59092f67656c0141	Examples of birth defects include neural tube defects, such as @PHENOTYPICFEATURE$; orofacial clefts; abdominal wall defects, such as gastroschisis; and congenital heart defects, such as @DISEASE$.	false
+1be7d517664d1528c73cd48f624eb73433ed68f2	Post-transplant @PHENOTYPICFEATURE$ in infants with @DISEASE$.	false
+cc9434390b0a82be7dd7474445124941f459e782	A statistically significant difference (p<0.01) was found in @PHENOTYPICFEATURE$, @DISEASE$, duodenal atresia/stenosis, diaphragmatic hernia and Down syndrome.	false
+e37b23bf3fb0167b83b406fef97ae6f1e3aab382	whereas use of both opioids and NSAIDs was associated with gastroschisis, cleft palate, @PHENOTYPICFEATURE$, @DISEASE$, and pulmonary valve stenosis (aOR range, 2.0-2.9).	false
+3741c27841a51d094492920a237b37f47bdfa994	The contemporary incidence of postoperative @PHENOTYPICFEATURE$ after repair of cardiac defects such as @DISEASE$ and other forms of single ventricle is not known.	false
+6ca653d850b0a18ffec7a3a91c566cfbc434102d	Considering a high-risk pregnancy, careful fetal morphological assessment by ultrasound was performed; the extensive examination using high-resolution probes, both by transabdominal and transvaginal approach, found @DISEASE$ (HLHS) and open @PHENOTYPICFEATURE$ (OSB).	false
+9acc3fed448dca6c1646c7f009398ace2deb0acc	Considering a high-risk pregnancy, careful fetal morphological assessment by ultrasound was performed; the extensive examination using high-resolution probes, both by transabdominal and transvaginal approach, found hypoplastic left heart syndrome (@DISEASE$) and open @PHENOTYPICFEATURE$ (OSB).	false
+fe6783680c77e303144e7f824ad31acafd14c3e6	The Parry-Romberg syndrome, or @DISEASE$, is a @PHENOTYPICFEATURE$ marked facial deformity because of atrophy of subcutaneous fat and skin, cartilage, and bone wasting.	false
+8d2b394b550170e468f33b5df06c73b2fc89e867	The @DISEASE$, or progressive hemifacial atrophy, is a @PHENOTYPICFEATURE$ marked facial deformity because of atrophy of subcutaneous fat and skin, cartilage, and bone wasting.	false
+41dde90172adbed31223d161f62f2c9801b3ba82	@DISEASE$ is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar @PHENOTYPICFEATURE$.	false
+36b729cb495aa8e6bb385fd6174b9897482a47c9	Our findings expand the range of phenotypes associated with this locus to include total soft tissue @PHENOTYPICFEATURE$ and sternal deformity, and suggest that @DISEASE$ may be another manifestation of the same genetic entity.	false
+de438669e99ff503464321a52ba9a202a81843a9	The most common nonimmune etiology of acquired von Willebrand syndrome (@DISEASE$) includes hypothyroidism, Wilms' tumor, thrombocythemia, or @PHENOTYPICFEATURE$, and the use of various drugs.	false
+810aa22954b079fbe5b3fc82ba55f649661eb7cb	The most common nonimmune etiology of @DISEASE$ (AvWS) includes hypothyroidism, Wilms' tumor, thrombocythemia, or @PHENOTYPICFEATURE$, and the use of various drugs.	false
+f56814a0dde9d6f6d8e3afb0585146350ee0aff2	[@DISEASE$ in two children with @PHENOTYPICFEATURE$ and abnormal haemodynamics].	false
+7cd5dfe121dc032f12103006741027303b5b621d	@DISEASE$ was defined as one or more of the following: jitteriness, irritability, lethargy, hypotonia, hypertonia, hyperreflexia, apnea, respiratory distress, @PHENOTYPICFEATURE$, poor feeding, or hypoglycemia.	false
+0fe2db4fad27350d2b09f9c27022d5677cbe78f3	Four strains demonstrated RDS that was less pronounced than in most AT cells: one was from a patient with @DISEASE$, one was from a patient without ataxia but with @PHENOTYPICFEATURE$ disorder, telangiectasia, and elevated concentrations of alpha-fetoprotein in the blood, and two were from AT patients.	false
+b315c6c08572b64f40c196163f2050e9d71ee135	Latin American countries can be characterized not only by their great geographic, demographic, ethnic, economic and health system diversity, but also by their heterogeneity in @DISEASE$ activities, which gives rise to variation in degree of organization: countries with optimal fulfilment (Cuba, @PHENOTYPICFEATURE$ Rica, Chile, Uruguay); others rapidly expanding their coverage (Brazil, Mexico, Argentina); some others in a recent implementation phase (Colombia, Paraguay, Venezuela, Nicaragua, Peru); others with minimal, isolated and non-organized activities (Guatemala, Dominican Republic, Bolivia, Panama, Ecuador); and finally others without any NBS activities at all (El Salvador, Honduras, Haiti).	false
+de1cfe77a935b5959bc761d817a8d1355c3d419c	Latin American countries can be characterized not only by their great geographic, demographic, ethnic, economic and health system diversity, but also by their heterogeneity in NBS activities, which gives rise to variation in degree of organization: countries with optimal fulfilment (Cuba, @PHENOTYPICFEATURE$ Rica, Chile, Uruguay); others rapidly expanding their coverage (Brazil, Mexico, Argentina); some others in a recent implementation phase (Colombia, Paraguay, Venezuela, Nicaragua, Peru); others with minimal, isolated and non-organized activities (Guatemala, Dominican Republic, Bolivia, Panama, Ecuador); and finally others without any @DISEASE$ activities at all (El Salvador, Honduras, Haiti).	false
+d2d5b6e8a76b1e8bf9daf4d8336dd4a027c88db6	These are referred to as the spectrum of "opioid-induced bowel dysfunction" (OBD) or what we will refer to as "opioid-induced bowel disease" (OIBD) which include constipation, nausea, @PHENOTYPICFEATURE$, delayed gastric emptying, and gastro-esophageal reflux disease (GERD), and a newer entity known as narcotic bowel syndrome (@DISEASE$).	false
+5900a0f2cc6f9d73364b12ba49668b1896a12262	These medications have been associated with adverse effects including delirium, dependence, withdrawal, bowel dysfunction, and @DISEASE$ @PHENOTYPICFEATURE$.	false
+443386ad8979b0dfe8125b75733d8d5f531ac2dc	@DISEASE$ renal nonfunctional syndrome is an association of facial and @PHENOTYPICFEATURE$, pulmonary hypoplasia, and fetal renal anomalies which lead to marked oligohydramnios, including renal agenesis (true Potter syndrome), renal cystic dysplasia, and obstructive uropathies.	false
+179cf0d8bb437ec203475a198d1e79e50097acd1	Neurotropic alphaviruses, including western, eastern, and Venezuelan equine encephalitis viruses, cause serious and @DISEASE$ fatal @PHENOTYPICFEATURE$ in humans for which no currently approved therapies exist.	false
+c4069b1d586aadb16f1c6cec2e14c14e911aac65	Disturbances of the excitation/inhibition (E/I) balance in the brain were recently suggested as @DISEASE$ factors underlying disorders like @PHENOTYPICFEATURE$ and schizophrenia resulting in associated behavioral alterations including changes in social and emotional behavior as well as abnormal aggression.	false
+ed8123b9e7ffa37803dbf91ff46206afac690daa	These results highlight the need to further investigate the risks of SSRI use during pregnancy in exposing unborn babies to @DISEASE$ @PHENOTYPICFEATURE$.	false
+96341e5ea16c2042034232783c9077205041685b	Apical hypertrophic cardiomyopathy (@DISEASE$) is associated with @PHENOTYPICFEATURE$ such as transient ischemic attack, stroke, limb-girdle muscular dystrophy, or eosinophilic myositis in single cases.	false
+cffcd0f0b1e476583710541017f33323516a3430	Alternating hemiplegia of childhood (@DISEASE$) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a @PHENOTYPICFEATURE$.	false
+21a885ba57eaa32eb27ab7fdd8687e1086a55b5e	Alternating hemiplegia of childhood (@DISEASE$) is an ultra-rare pediatric @PHENOTYPICFEATURE$, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder.	false
+da378c95c709ebba3d61b05bc4ee3e67afede569	Alternating hemiplegia of childhood (@DISEASE$) is a rare disorder characterized by repeated plegic attacks, @PHENOTYPICFEATURE$, autonomic phenomena, and developmental delay.	false
+67cf1c76e393770820cfdafddf757c03a7a81649	We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), @DISEASE$, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor @PHENOTYPICFEATURE$.	false
+f88b4bdde4db31b5d983032319fb44ebd852052c	Two siblings with 46,XY DSD, @DISEASE$, aniridia, craniofacial, and @PHENOTYPICFEATURE$ and intrauterine growth retardation: a new syndrome?	false
+135bab33221ba8d441ea2bbc616472d76eba50eb	To test the hypothesis that social behavioral deficits represent part of the phenotype of (Na(+), K+)-ATPase ?3 mutations, we assessed the social behavior of the Myshkin mouse model of @DISEASE$, which has an I810N mutation identical to that found in an AHC patient with co-morbid @PHENOTYPICFEATURE$.	false
+3bd1d09e619dcff7e4265f34fdc0cc451124d906	To test the hypothesis that social behavioral deficits represent part of the phenotype of (Na(+), K+)-ATPase ?3 mutations, we assessed the social behavior of the Myshkin mouse model of AHC, which has an I810N mutation identical to that found in an @DISEASE$ patient with co-morbid @PHENOTYPICFEATURE$.	false
+cb2a3558feda2a102754906d26671a958b708604	Major clinical characteristics shared in common by @DISEASE$ and RDP comprise a strikingly asymmetric, predominantly dystonic @PHENOTYPICFEATURE$ with rostrocaudal gradient of involvement and physical, emotional, or chemical stressors as triggers.	false
+785f2cdbcac7a1fa9bb7bd5d03fdbff98d3efcac	The autopsy study revealed unusual findings of @PHENOTYPICFEATURE$ and spheroid formation in addition to arterial structural abnormalities and perivascular demyelination which are common in cases of @DISEASE$.	false
+2bdd0721f0c7a61414e2e4f37e227bd83301632f	The policy of limiting medical intervention in newborns with @DISEASE$ due to the broad spectrum of severe congenital malformations, @PHENOTYPICFEATURE$ and reduced life expectancy is unanimously accepted, but yet difficult to apply from an ethical point of view.	false
+7f922c5e6c77c8ae7ab5b71bcef067b83045d6c7	In addition, she also had upturning of upper lip and @PHENOTYPICFEATURE$, which are features of @DISEASE$ syndrome.	false
+a67cdb251cb335b431cee211fe14e1f34760aa8d	The case of a newborn male with @DISEASE$ syndrome, having bilateral @PHENOTYPICFEATURE$, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented.	false
+ad6d3f6a5898633c40b125ec869de9fdf43238e6	Constitutional trisomy 18 causes @DISEASE$, which is characterized by @PHENOTYPICFEATURE$ and a particular set of malformations.	false
+253b08d5390dce4743244ebda829e0a18c6f7b48	@DISEASE$ is frequently associated with neurologic abnormalities, including hypotonia in infancy, @PHENOTYPICFEATURE$, central apnea, and epilepsy.	false
+6bf328291d4f84d91a81edf217f7254d9c52e497	@DISEASE$ is a severe neurometabolic disorder, characterized by @PHENOTYPICFEATURE$, dystonia, oculogyric crises and additional extraneurological symptoms.	false
+40b178d497d5f0497d811230a9cc818bbc40d605	In @DISEASE$, dopamine and serotonin deficiency leads to a severe clinical picture with @PHENOTYPICFEATURE$, oculogyric crises, hypotonia, dystonia, and autonomic dysregulation.	false
+2d498d90dc751e5def0aa613bfa809bc9d0c1dbb	Because an association with @PHENOTYPICFEATURE$ is uncommon in @DISEASE$, some cases may have been regarded as involuntary non-epileptic movements.	false
+596bc2ca63ab8188e35cd27921978066fe5adfd5	Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (@DISEASE$) @PHENOTYPICFEATURE$.	false
+c8a5b07e7aab3d62282b5830badd30efb462b3a7	A total of 22 newborns with @DISEASE$ and various associated @PHENOTYPICFEATURE$ and 16 newborns without PDA were examined.	false
+97de72acebe83e6b492d3256e403cbc0f6f7800c	175 patients with @DISEASE$ and without other @PHENOTYPICFEATURE$ were operated by this technique.	false
+caa5a431de82727b8e90fcdceadce4607b8a0fdc	However, 2-D Doppler failed to establish the preoperative diagnosis for six patients in Group A (two patients with ASD, three with @DISEASE$, and one with TOF) and failed to detect associated @PHENOTYPICFEATURE$ for three patients in Group A (two with PAPVC, one with Azygos connection).	false
+bc87114940024f061d2888825a17d91247c1d7c6	Cardiac catheterisation laboratory became available in Lagos, Nigeria in 2009 and in October 2010, the laboratory collaborated with Lagos State University College of Medicine (LASUCOM) and Lagos State University Teaching Hospital (LASUTH), to perform a device closure on a 3-year old girl with @DISEASE$ who had presented to LASUTH with @PHENOTYPICFEATURE$ at the age of 6 months.	false
+e7e8da695b36e3069ae1f963cc58a5636352a4c4	We report our experience of medical treatment, chiefly based on prolonged artificial ventilation, of 33 preterm infants with @DISEASE$ and @PHENOTYPICFEATURE$ whose survival rate was 88%.	false
+2ffd962a169bb26f1ffa9f91158487c908958cc0	There are various occlusion devices available for treatment of various @PHENOTYPICFEATURE$ like @DISEASE$, ASD, etc.	false
+43eb519afa8e890e3593901536311c68febd70f1	Eight infants with severe RDS and @DISEASE$ developed @PHENOTYPICFEATURE$ and four required surgical ligation of the ductus.	false
+0f3e7db1b67bef6309e105c13ca63f918119c7be	Although the present patient had @DISEASE$-dependent heart disease, @PHENOTYPICFEATURE$ occurred due to increased pulmonary blood flow through PDA and required surgical treatment.	false
+bcd265e336e9aa7f206383ddd9f3f99eb65547f8	Here the authors show that @PHENOTYPICFEATURE$ induces the expression of the mitochondrial form of arginase ARG2 in PDA and that ARG2 silencing or loss results in ammonia accumulation and suppression of obesity-driven @DISEASE$ tumor growth.	false
+32602dab8004c4d8f0439f016f3a72cd8622276c	Here the authors show that obesity induces the expression of the mitochondrial form of arginase ARG2 in PDA and that ARG2 silencing or loss results in ammonia accumulation and suppression of @PHENOTYPICFEATURE$-driven @DISEASE$ tumor growth.	false
+c12c96cea0411b5a9bfaef07dde2e7d7593aadb1	@PHENOTYPICFEATURE$ and hypokalaemia in @DISEASE$.	false
+62a10bcd80a4734fa4c48d783f0420eff81b6c2f	Thirteen (34.21%) patients died, mostly due to @DISEASE$ and @PHENOTYPICFEATURE$.	false
+197c2b53a5e286d7ca22861c7aad0512b8f067ec	Myocardial calcification is rare and occurs in previous myocardial infarction, endomyocardial fibrosis, and infections such as @DISEASE$, chronic renal failure, or @PHENOTYPICFEATURE$.	false
+f410dc0823416a77137e375dacf5b9d81bb979c7	The "modern" view is that Snow's early @DISEASE$ and associated renal disease led to @PHENOTYPICFEATURE$, chronic renal failure and stroke.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+85022fe3419dd660d7ae488c4e5da2959189e755	@PHENOTYPICFEATURE$ and lymphocytopenia are predictive risk factors for in-hospital mortality in patients with @DISEASE$.	false
+8e68079374bee58e11aef1d98a844b555e6f2e93	@PHENOTYPICFEATURE$ and elevated calcitriol in a maintenance dialysis patient with @DISEASE$.	false
+faf594cb2278e596b5fb23c54dc8f07b6c3ddcd1	The etiology may be either idiopathic or in association with systemic disorders such as @DISEASE$, rheumatoid arthritis, myxedema or @PHENOTYPICFEATURE$.	false
+c1d80e4f40e56bff0da6f2d6e7daed0a85ee5610	A uremic patient developed @PHENOTYPICFEATURE$ after @DISEASE$ infection, and his ionized calcium levels correlated with 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) levels.	false
+cf926c3da53e56b0596c22f19cbe7a86173584e5	We describe a 32-year-old primigravida presenting at 31 weeks gestation with a @PHENOTYPICFEATURE$ due to cerebral metastases secondary to @DISEASE$ who was subsequently successfully treated with chemotherapy.	false
+6b08cbccbbd86e8c0074f7de705e96dbb72c565a	Management of @DISEASE$ with Underlying Hyperammonia @PHENOTYPICFEATURE$ Syndrome.	false
+b53c968f28827bc2ca69e9ad8cbe4cb83ab39b83	However, he displayed @PHENOTYPICFEATURE$ and developed pleural effusions, ascites and anasarca not solely explained by @DISEASE$ (OTCD).	false
+7fc0d1ed2ea0c82fde15f6417776715243111836	However, he displayed @PHENOTYPICFEATURE$ and developed pleural effusions, ascites and anasarca not solely explained by OTC deficiency (@DISEASE$).	false
+9d13ef98243119ed332cf62e248e37d0a15f82a6	If @DISEASE$ syndrome is a classical cause, the majority of patients have an underlying systemic disease like @PHENOTYPICFEATURE$, Sj?gren's syndrome, mixed cryoglobulinemia, Still disease or cancer.	false
+8216e128ac684f079f3be4e9f059e162030af74e	IgG autoantibody to the collagen-like region of Clq in @DISEASE$ syndrome, @PHENOTYPICFEATURE$, and 6 other musculoskeletal or rheumatic diseases.	false
+15c60afcea5d24e2c251b00c4ba0ac2cc5326dcd	We present a 7-year-old girl with @DISEASE$ associated with @PHENOTYPICFEATURE$ and pneumonia who responded favorably to intravenous immunoglobulin.	false
+b6b0cdf93aed9f9dc8eb6056014b1e2836b3f113	The aim of this project is to create an effective, non-invasive diagnostics method describing @PHENOTYPICFEATURE$ in patients with @DISEASE$ before and after surgery.	false
+27d52a6c6526097aa7f5c31e8be7ff079c90d0d9	Radiofrequency (RF) ablation is a minimally invasive technique often used percutaneously in the treatment of many conditions such as @PHENOTYPICFEATURE$, pain, and @DISEASE$.	false
+c756ca326aa32fe58f0cee02c51895a95c9d094b	Birth findings included bilateral upper limb @PHENOTYPICFEATURE$, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and @DISEASE$.	false
+0b0a0672212618f5849e4f0906fef2c7d7ad22d7	Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not @PHENOTYPICFEATURE$, a micropenis, @DISEASE$ or obesity as common findings seen in PWS at the time of examination at 6 years of age.	false
+f6187bb010152947f61c3ee1b2b610d3d4725fe0	Microdeletions at 15q11.2-q13 in a newborn with hypotonia, @DISEASE$, and @PHENOTYPICFEATURE$ were detected with few discrepancies between the array results and FISH analysis.	false
+1bd47e70a5ffb736b24169afc3afab025b448b88	We report a case with a new syndrome that presents with glaucoma, @DISEASE$, oculocutaneous @PHENOTYPICFEATURE$, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously.	false
+450e0c0dd33cb37437a3040a6a414953511f2e37	The pattern of findings includes an anomaly of the anterior cranium and frontal cortex (trigonocephaly), the root of the nose (broad nasal bridge, epicanthus, and short nose), and palate (thick anterior alveolar ridges); abnormalities of the limbs (polysyndactyly, bridged palmar creases, @PHENOTYPICFEATURE$, and joint dislocations and/or contractures); visceral defects (congenital heart defects, @DISEASE$, and abnormal lobulations of the lungs and kidneys).	false
+0033ee81485fb68c0e36fb9c11b22467b0768ef4	He had growth and developmental delay, mental and motor retardation, microcephaly, microphtalmia, triangle face, small dysplastic ears, strabismus, epicanthal folds on the left, short stature, @DISEASE$, spasticity, pes equinovarus, pes planus, hypothroidism, stereotypic movements and @PHENOTYPICFEATURE$.	false
+5af2eb1c95e925e698ca30b93c99c2b80c0886f1	We report the case of a 6 month old male with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, congenital heart disease, neonatal hepatitis, @DISEASE$, talipes equinovarus, limb length asymmetry, bilateral overriding of 1st by 2nd toe, and extended @PHENOTYPICFEATURE$ in a linear-whorl distribution.	false
+a0e486f72a5c2d076eb09ad95e1bdb652d4c4057	A new syndrome presenting with dysmorphic facies, oculocutaneous @PHENOTYPICFEATURE$, glaucoma, @DISEASE$ and mental retardation.	false
+44254de1cf3f20893b55471a7905542fc0f162f2	We have studied the molecular background and discuss the likely mechanism for the chimerism in a patient with a 46,XX/47,XY,+14 karyotype and ambiguous genitalia, @DISEASE$, @PHENOTYPICFEATURE$, and normal psychomotor development.	false
+e0b9508748b6858b20ee16fe9dd95c539bad302e	The clinical features were short stature, obesity, delayed mental development, bilateral @DISEASE$, hypogenitalism, @PHENOTYPICFEATURE$, and bilateral moderate vesicoureteral reflux with a history of muscular hypotonia.	false
+7ecb7fda094081aec0f02d475902239530408982	@DISEASE$ is a rare mitochondrial disease characterized by hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis.	false
+e6ba6e82f7d5267b5622f24772703203230f10c5	The most significant clinical findings were tubulopathy (hyperuricemia, metabolic alkalosis), pulmonary hypertension, and progressive @PHENOTYPICFEATURE$ in infancy (@DISEASE$).	false
+d8a1d700e55f60f2809677917a915889a465de0f	Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy and alkalosis, @DISEASE$.	false
+ad81b171bd77dd00bca8549faf4f511e78a1b834	Missense mutations in the mitochondrial seryl-tRNA synthetase gene, SARS2, have been identified in @DISEASE$ (hyperuricemia, pulmonary hypertension, @PHENOTYPICFEATURE$ in infancy, and alkalosis).	false
+a46f82e889640d0d97628674d504842011456f63	Hereditary complement (C6) deficiency associated with @PHENOTYPICFEATURE$, Sj?gren's syndrome and @DISEASE$.	false
+1d298cd6aaee0641fb443d62c6ad585da0f370ba	Although chorea is a rare manifestation of @DISEASE$, this is the first report of a patient with acquired, reversible @PHENOTYPICFEATURE$ disorder while still being severely hypothyroid and treated with levothyroxine.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+805cde5e4989a76f8be0479a81fe57481a276ecc	Correlation between thyroid autoantibodies and intracranial @PHENOTYPICFEATURE$ in stroke patients with @DISEASE$.	false
+84fe98003c3d3b627ed74e6ea78d38f287cadcf7	[@PHENOTYPICFEATURE$ and @DISEASE$; clinical and therapeutic relationship].	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+44d37a68d341f49bde9592dc53f4f8e9504da7da	In spite of 65.6% of the patients being asymptomatic, breathing problems, @PHENOTYPICFEATURE$ and @DISEASE$ were observed.	false
+e4e41efb5232fe7561425a3e7953722a69337281	Emotional disturbance and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+25499cfab7904080f6e9a1db9abdf7fb7b09383d	A patient with @DISEASE$ is described who developed @PHENOTYPICFEATURE$ when anth-thyroid medication was withdrawn.	false
+71c24536cbdf6e88e8a1bc20386b9eaa7535c7b6	Our patient was diagnosed with @DISEASE$ stage I at age two and was also found to have distinct streaked areas of skin hyper- and @PHENOTYPICFEATURE$ suggestive of Hypomelanosis of Ito.	false
+39d030c15d30080d176094da8cbc6399503d3b8a	The authors describe skin @PHENOTYPICFEATURE$ in a 5-year-old patient receiving ifosfamide, MESNA, and etoposide for the treatment of relapsed @DISEASE$.	false
+8e8d55014538c2c637fcc9259d39a4094d91bc7b	Seminoma, @PHENOTYPICFEATURE$, desmoid tumor, leiomyoma and @DISEASE$ have been described in a few patients with 16p11.2	false
+2d4c9438bfce1ceb7dc7f16875a433baf4c08a7c	In conclusion, the patients with @PHENOTYPICFEATURE$, bird-like face, and severe growth retardation should be evaluated for @DISEASE$ and primary immunodeficiency diseases.	false
+383d0af9a367e028b93d5dee1a3e8b081474067a	A newly recognized, likely autosomal recessive syndrome comprising @DISEASE$, @PHENOTYPICFEATURE$, craniosynostosis, severe dermatitis, and other features.	false
+9fac1f5e8cecb9383f9696dfd4f820149e4c7451	[Idiopathic hypoproteinemia with @DISEASE$; normo-aldosteronic @PHENOTYPICFEATURE$; polyglobulia].	false
+a5f2f053959a617587acddb37b1e5cb12f443088	Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, @PHENOTYPICFEATURE$, syndactyly, additional @DISEASE$, and growth delay.	false
+1d0b533f2b8846c1d95fb43594b2c0694b9dc26a	Key clinical features comprised @DISEASE$, short stature with @PHENOTYPICFEATURE$, cataract, and inner retinal dysfunction without sideroblastic anemia or developmental delay.	false
+6a2d48c3ec3b0e0129a5014b0afe9710aa0a8cfa	Here, we report unique de novo TP53 germline variants found in two individuals with an IBMFS accompanied by @DISEASE$, growth retardation, and @PHENOTYPICFEATURE$ mimicking DBA and DC.	false
+39a87b3593446f13cc3a7a5d8323035c9d87c82f	All the patients presented with chronic diarrhea, @PHENOTYPICFEATURE$, lymphopenia, hypocalcemia, and @DISEASE$, and 3 patients presented with hypocholesterolemia.	false
+2d1a4d3e84ba5958929d61d6e1fd7c3ec63000df	Microphthalmia, facial anomalies, @PHENOTYPICFEATURE$, thumb and hallux hypoplasia, and @DISEASE$.	false
+0442c200d31a34dd0e7bfd738e5b1ecc27842792	The disease manifests as @DISEASE$ with marked @PHENOTYPICFEATURE$, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis.	false
+9776afc9c5d4601efb9a02a0b56c26f9c494c063	Four patients with protein-losing enteropathy occurring after the total cavopulmonary connection, presenting with @PHENOTYPICFEATURE$, hypoalbuminemia, and @DISEASE$, received intravenous immunoglobulin replacement therapy.	false
+a9ebcaee8d0932f061d0539125a5b27ae91b466b	A pseudomeningocele in the sacral region is associated with trauma and with @DISEASE$, but only one occurrence has been reported in association with @PHENOTYPICFEATURE$.	false
+ee7eb7abae5877d054b19af85b572243eab1d998	[Mitral valve prolapse syndrome associated with severe @PHENOTYPICFEATURE$ in a 6-year-old girl with @DISEASE$].	false
+82b6db2f5bd9ccfba60226945f94b41639379ae2	No clear quantitative definition of @PHENOTYPICFEATURE$ associated with @DISEASE$ is available.	false
+c4e01365a628dffe235e7312ba912d5af02d60e5	Perioperative (30-day) mortality in patients demonstrating the @DISEASE$ was 6.67% caused by @PHENOTYPICFEATURE$ versus 13.33% mortality in patients with no evidence of the MFS.	false
+201c63d5b7e16f5473cd8f178a60d484fcb8c056	Perioperative (30-day) mortality in patients demonstrating the MFS was 6.67% caused by @PHENOTYPICFEATURE$ versus 13.33% mortality in patients with no evidence of the @DISEASE$.	false
+69aa6dd9a9df5a0e4db71feb5bf76640dd06d6a1	@DISEASE$ with causative FBN1 mutations is associated with an increased risk for @PHENOTYPICFEATURE$, and affected persons may require life-long monitoring.	false
+500f2b876148f31e8e266d0e7d2a4ffe79664688	In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant @DISEASE$ characterized by a high degree of clinical variability and apparently isolated early onset familial @PHENOTYPICFEATURE$.	false
+7dc32a14578cf55118ec447d82294776bd2cebe0	Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, @PHENOTYPICFEATURE$, @DISEASE$, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and familial exudative vitreoretinopathy.	false
+65dd9779a4758432504bfbd6f9b8308030109e35	The girl had @PHENOTYPICFEATURE$ features (a beaked nose and long face) with normal chromosomal studies, negative fluorescent in situ hybridization study for velocardiofacial syndrome and an absence of signs suggesting @DISEASE$.	false
+fb0e43d8d6b61076a7ada6bc33645309aacd30d8	Markers associated with a crooked tail, deficiency of uridine monophosphate synthase, @PHENOTYPICFEATURE$, @DISEASE$, and weak calf syndrome were absent.	false
+d125e64e8d10b4ccff8acf5cfa9c3b3b8534f0a7	Bicuspid aortic valve, mitral valve prolapse, @DISEASE$, cardiomyopathy, congenital @PHENOTYPICFEATURE$, and spontaneously closed defects were excluded.	false
+3d3b8681d9de98b539ccbd7533471eb5990979b1	These cases, in conjunction with a review of the literature, suggest that @PHENOTYPICFEATURE$ are common in @DISEASE$.	false
+28591cd426bff3061b1830b04730a0f5881ddb42	Distinct @PHENOTYPICFEATURE$ in four girls with @DISEASE$.	false
+2775e9d67b5110352fbc702c677bf0c6cbd7c5d1	@DISEASE$ is a rare systemic connective tissue disorder characterized by craniosynostosis, @PHENOTYPICFEATURE$, infantile hypotonia, mild-to-moderate intellectual disability and cardiovascular anomalies.	false
+a11e1aa49c528e974abae327c101a6b83d43ffc0	The most common skeletal manifestations in @DISEASE$ were arachnodactyly, @PHENOTYPICFEATURE$, camptodactyly, scoliosis, and joint hypermobility.	false
+38ae739abb909b457777a32b70b7c2bd67d89297	@DISEASE$ (OMIM #182212) is a connective tissue disorder characterized by craniosynostosis, distinctive craniofacial features, @PHENOTYPICFEATURE$, marfanoid body habitus, aortic dilatation, and intellectual disability.	false
+9c4fdd2d60a3813f7d1ceccfb2eb20be0fc0a634	Type I (complex and classic type) @DISEASE$ patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic @PHENOTYPICFEATURE$ (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs).	false
+3cb48ffc48ea2f25255c516e92732dbe5a46ef09	Corrections of diverse forms of @PHENOTYPICFEATURE$ in patients with @DISEASE$ (Morquio syndrome).	false
+86babef8d1a3046eb302dc935552aca8bfa77456	Severe neonatal @DISEASE$ is inherited as an X-linked condition characterized by primary asphyxia, extreme @PHENOTYPICFEATURE$ and absent spontaneous movements.	false
+c7fc282c2c9bf949d31dd12dff3037fb846a389f	[A case of @DISEASE$ with @PHENOTYPICFEATURE$].	false
+7df93ad1f87fb0c6e4aa7fe985ac8036fa02b102	The diagnoses were renal tubular dysgenesis, SCN1A-related @PHENOTYPICFEATURE$ syndrome, @DISEASE$, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+895f994b0cf2d27c352c5ee3ad594e4a07edcc7b	The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, @DISEASE$, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant @PHENOTYPICFEATURE$ syndrome type 7 and Denys-Drash syndrome.	false
+e8ff73c3b3d365124e1f799a7ad0011ade497b88	Centronuclear myopathy (@DISEASE$) is a rare hereditary congenital myopathy characterized by @PHENOTYPICFEATURE$ and abnormal centralization of nuclei in muscle fibers.	false
+4a0e2a89b32f8cea1c87e19de0069c46f81218ec	@DISEASE$ (CNM) is a rare hereditary congenital myopathy characterized by @PHENOTYPICFEATURE$ and abnormal centralization of nuclei in muscle fibers.	false
+deb45f7b831233154d0b26e43a02d02450e89189	Previously, @PHENOTYPICFEATURE$ or dementia have been noted in only a small number of @DISEASE$ patients, and only in association with significant metabolic disturbances.	false
+60f735071d727f044662f2ef013903b4250f65c8	@PHENOTYPICFEATURE$ and @DISEASE$ were not correlated to CIMT (r?=?-0.02 and -0.14, respectively) or arterial wall stiffness (r?=?0.13 and -0.11, respectively).	false
+16233f39fe6ec100ac19826e443c60b61aa1adb0	@DISEASE$ @PHENOTYPICFEATURE$ were found to dedifferentiate in 2/35 cases.	false
+a6e9edb9076d5c5e4f244f75abad44da11a4d379	axis as a potential therapeutic target in @DISEASE$ @PHENOTYPICFEATURE$.	false
+12c446bea91b3a74b25e2e3ba436dd72878e7b87	Supporting this, ATRX-mutated human @DISEASE$-positive @PHENOTYPICFEATURE$ also show a substantially lower rDNA copy than ALT-negative tumors.	false
+8cf0407957eaab4703fa2ff17368e8d850c50313	Supporting this, ATRX-mutated human @DISEASE$-positive tumors also show a substantially lower rDNA copy than ALT-negative @PHENOTYPICFEATURE$.	false
+a7f90a8ca8971ff0b77d7280064070655bb383a7	Supporting this, ATRX-mutated human ALT-positive @PHENOTYPICFEATURE$ also show a substantially lower rDNA copy than @DISEASE$-negative tumors.	false
+06563752e20423cfe9b5a4a8918f70d3a903088e	Supporting this, ATRX-mutated human ALT-positive tumors also show a substantially lower rDNA copy than @DISEASE$-negative @PHENOTYPICFEATURE$.	false
+619959e94ff8f2120b582394aa689bc425775d82	Among primary cardiac @PHENOTYPICFEATURE$, @DISEASE$ is very rare.	false
+e0ca93a6c0ae622cbe1688d1e26bdd7b56765554	amplifications, and @DISEASE$ in human @PHENOTYPICFEATURE$.	false
+2835e37116c37276ec5e0e29e7457f8b7bd0fdf6	[@DISEASE$ paratesticular @PHENOTYPICFEATURE$].	false
+655b58842d78a924b813b2ef55f06b2e66592f4a	Canine @PHENOTYPICFEATURE$ are not characterized for ALT and the study aim was to identify if the @DISEASE$ phenotype exists in canine sarcomas.	false
+9d1cd68afc752b0eb43c58f37fb64de9249aad81	Canine @PHENOTYPICFEATURE$ are not characterized for @DISEASE$ and the study aim was to identify if the ALT phenotype exists in canine sarcomas.	false
+d4f7b171456fb6c8fe7591bbfa8e5ddd3e39223e	@DISEASE$ tumours (ALT) are common adipocytic @PHENOTYPICFEATURE$.	false
+a4d3792632ce6ad2a5c89e673a0af4144939e2b2	@DISEASE$ (atypical lipomatous tumour) is a low grade @PHENOTYPICFEATURE$, with no metastatic potential unless dedifferentiation supervenes.	false
+b7c827f61af06dc970c0874985c85acf52945a03	Well differentiated liposarcoma (@DISEASE$ tumour) is a low grade @PHENOTYPICFEATURE$, with no metastatic potential unless dedifferentiation supervenes.	false
+8c1a87536643bdc9a80df55924c280c702e5d011	The @DISEASE$ phenotype evolves during early childhood and includes a generalized and excessive skin wrinkling, dental problems, herniae, @PHENOTYPICFEATURE$, hip dislocations, growth retardation, and a large anterior fontanelle.	false
+5c394822e5a860bdc16f6ef3d6d12e4134d95652	Woodhouse-Sakati syndrome (@DISEASE$) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, @PHENOTYPICFEATURE$, extrapyramidal signs, and low insulinlike growth factor 1 levels.	false
+ad382569b85b0adac42a78f818d00e132cd59738	It is characterized by @PHENOTYPICFEATURE$, skeletal anomalies, @DISEASE$, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations.	false
+15eca026461732cd0e52afbe844e8208169a8813	@DISEASE$ (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and @PHENOTYPICFEATURE$ are considered the main clinical features.	false
+16e0273660ebe7ad5a67482c004d88ea2f6a42a5	@DISEASE$ is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and @PHENOTYPICFEATURE$.	false
+91605909c8d4d9f519e1d9a8047305c9ceb7becb	C. L. S. have been observed in isolated patients with bony skeletal and @PHENOTYPICFEATURE$, in Westerhof's syndrome, Leschke's syndrome, Cowden's disease, @DISEASE$, epidermal nevus syndrome, Gaucher's disease, Hunter's disease, Turner syndrome.	false
+be44d991a780c97cbd0c95ac35eab56256b4b0fa	Main clinical manifestations include @DISEASE$ (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and @PHENOTYPICFEATURE$ (macrocephaly, cleft lip/palate and severe eye anomalies).	false
+aa6e591f4ba6a1c71d00ea47c16699162673d927	Congenital esophageal stenosis (@DISEASE$) is rare and usually manifests in infants as dysphagia, @PHENOTYPICFEATURE$, and food impaction.	false
+656cb73ab26ebe89047d3e308f636eef00462418	Through clinical exome sequencing (@DISEASE$) of an 8-year-old girl with a clinical history of global developmental delay, @PHENOTYPICFEATURE$, microtia with hearing loss, language delay, ADHD, and dysmorphic features, we describe a heterozygous de novo variant (c.205C>T; p.(Arg69*)) in the integral cohesin structural protein, STAG2.	false
+52db3882456cb231eac881c015857d95d7942afe	We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with @DISEASE$ (CES) using cultured amniocytes in a pregnancy with fetal @PHENOTYPICFEATURE$, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity.	false
+3cf73b7016869037d941589c53c1a7f9eabb7c7e	We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (@DISEASE$) using cultured amniocytes in a pregnancy with fetal @PHENOTYPICFEATURE$, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity.	false
+8f3943ba9835f9d92751f93319dccc2db42f4192	Additionally, the patient had antimongoloid slant of the eyes, @PHENOTYPICFEATURE$, preauricular sinuses, cardiac malformations, skeletal malformations, and mental retardation suggestive of the @DISEASE$.	false
+727b23775919d3d1462e2e15f632535ddfb11ee8	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by @PHENOTYPICFEATURE$, seizures, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+b152f570625106e7afd290b6d4a82cb66bc57c5d	A deficiency of CBS causes homocystinuria (MIM 236200), one of the most prevalent inborn @DISEASE$, characterized by mental retardation, @PHENOTYPICFEATURE$, psychiatric disturbances, skeletal abnormalities and vascular disorders.	false
+73d5d7e7d20ec44155326e9b4ed976620f293244	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe @PHENOTYPICFEATURE$ and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+ee0228cb2a0507a27f143f81637e43f6b69c029d	Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn @DISEASE$ of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, @PHENOTYPICFEATURE$ language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os.	false
+09e4cd04e3637d4c481f61f7e053f62d6175dcf6	However, other inborn @DISEASE$ may present within the first 10 days of life with severe illness, particularly neonatal @PHENOTYPICFEATURE$.	false
+0454e6aad1fb975ad63e938643a6dc9b549fd754	We studied 26 children with inborn @DISEASE$ of urea synthesis who survived neonatal hyperammonemic @PHENOTYPICFEATURE$.	false
+ec95bc979cbbee1c2e5b497d692c643bdc14eda0	Metabolic @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1225912dc73303d04e8b1d8e9563ffb35b3671f3	Etiologic factors in @PHENOTYPICFEATURE$; @DISEASE$ of metabolism that may lead to mental deficiency.	false
+a46a5c8d898563a407bee720c30cf57dcc5e3a11	Etiologic factors in mental deficiency; @DISEASE$ of metabolism that may lead to @PHENOTYPICFEATURE$.	false
+1c010e6728147781b09afd8d1b1c928dd9d23d81	Arginine:glycine amidinotransferase deficiency is a treatable inborn @DISEASE$ of creatine synthesis, characterized by @PHENOTYPICFEATURE$, language impairment, and behavioral disorders.	false
+f50caef4bce595ce9e1fd051f864f57003884518	Arginine:glycine amidinotransferase deficiency is a treatable inborn @DISEASE$ of creatine synthesis, characterized by mental retardation, @PHENOTYPICFEATURE$, and behavioral disorders.	false
+9a9083b6f355e55df3249018ac066f7e3ab2c916	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by ataxia, psychomotor retardation and @PHENOTYPICFEATURE$.	false
+dc78c3d596eed613fb71855ded6596f398ec87ad	Succinic semialdehyde dehydrogenase (SSADH) deficiency is an inborn @DISEASE$ of GABA metabolism characterized clinically by @PHENOTYPICFEATURE$, psychomotor retardation and seizures.	false
+5b2b4c2dcb6d5cfdc290b0c5a1abd88df4a0400a	[Diagnostic @DISEASE$ of @PHENOTYPICFEATURE$ of neurometabolic origin confirmed by mass sequential spectrometry].	false
+e0cabebc482b2774d134186fea0626240b810a6c	The Sj?gren-Larsson syndrome (SLS) is an inborn @DISEASE$ of lipid metabolism, characterised clinically by congenital ichthyosis, @PHENOTYPICFEATURE$ and spasticity.	false
+e290a4123a6eddd9f9920df82f7d712ef9ee8e1d	The Sj?gren-Larsson syndrome (SLS) is an inborn @DISEASE$ of lipid metabolism, characterised clinically by congenital ichthyosis, mental retardation and @PHENOTYPICFEATURE$.	false
+b6d241c889255b499cd20e7744bf860d52e61d14	Patients with @DISEASE$ (TM) had higher rates of hypogonadism, multiple endocrinopathies, worse hyperglycaemia, subclinical hypoparathyroidism and @PHENOTYPICFEATURE$.	false
+d37d2828065af38d27e9c2df93b9c8d65bb5d0a6	We present a case of a neonate with VACTERL-like association, with the VACTERL association defined as the non-random association of vertebral, anal, cardiac, esophageal, renal/kidney, and limb defects, as manifested by a hemivertebra, imperforate anus, and @PHENOTYPICFEATURE$, in rare association with @DISEASE$ and right-sided diaphragmatic hernia.	false
+e969b4aacd4a1c5a2e60dc1fb03dc3fc83bf0ac1	An about 300 times risk increase was seen for annular pancreas, @PHENOTYPICFEATURE$ and @DISEASE$ and an about 100 times risk increase for megacolon and small choanal atresia.	false
+5e99e6bf243cbc71a7067699afc60230bb11ea4c	A variety of other abnormalities have been described in children with JS, including abnormal breathing, @PHENOTYPICFEATURE$, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and @DISEASE$.	false
+3c614a5fa2c379eba260c63bfc6d768c92651f32	A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and @PHENOTYPICFEATURE$, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and @DISEASE$.	false
+d0cfcee03690f550f366f5ad3621e82b09e8eb88	@DISEASE$ is a rare but severe @PHENOTYPICFEATURE$ characterized by long trunk and short extremities.	false
+0835ee671f372b418a048bb6efac8f3485ad28aa	Diagnoses included Morquio syndrome (6), spondyloepiphyseal dysplasia (9), @PHENOTYPICFEATURE$ (5), @DISEASE$ (3), and Kniest syndrome (1).	false
+87868fc5fee39d362cadc3be2ff19c7ad7162003	Heterozygous missense mutations of transient receptor potential vanilloid 4 channel (TRPV4) cause a spectrum of skeletal disorders, including brachyolmia, spondylometaphyseal dysplasia Kozlowski type, @DISEASE$, parastremmatic dysplasia, and @PHENOTYPICFEATURE$ Maroteaux type.	false
+0a1350fafe3255cfa8bb70dd417e192888ad9742	SPRED1, a RAS MAPK pathway inhibitor that causes @DISEASE$, is a @PHENOTYPICFEATURE$ suppressor downregulated in paediatric acute myeloblastic leukaemia.	false
+78f645f911f7396945923f975864b7c45c4b8417	The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: (i) craniofacial dysmorphia; (ii) delayed growth; (iii) mental retardation or learning difficulties; (iv) cardiac malformations (most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy); (v) cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid @PHENOTYPICFEATURE$ and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. NCFC subsumes neurofibromatosis type1, @DISEASE$, LEOPARD syndrome, Noonan syndrome, Costello syndrome and (cardiofaciocutaneous CFC) syndrome.	false
+331c7d7cec914f2f13fbc9b2cdc38af4aad57364	Neurofibromatosis type 1 (NF1) and @DISEASE$ are related diseases with partially overlapping symptoms caused by alterations of the @PHENOTYPICFEATURE$ suppressor genes NF1 (encoding the protein neurofibromin) and SPRED1 (encoding sprouty-related, EVH1 domain-containing protein 1, Spred1), respectively.	false
+a732963e1c4d765a0036f4165465c1c14056ee93	@DISEASE$ is a RAS-MAPK syndrome characterized by pigmentary findings similar to neurofibromatosis type 1 (NF1), but without @PHENOTYPICFEATURE$ complications.	false
+b788ea5a6e80e26cb822089c957edcb9c5e64f70	Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome (MIM #218040), cardio-facio-cutaneous syndrome (MIM #115150), type I neurofibromatosis (MIM #162200), and @DISEASE$ (MIM #611431)] are a group of related genetic disorders associated with distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and @PHENOTYPICFEATURE$ predisposition.	false
+3d2d23fd5d06b7c46981257ae60bf6d6e5bb1c40	Individuals with @DISEASE$ have multiple CALMs with or without freckling, but they do not show the typical NF1-associated @PHENOTYPICFEATURE$ such as neurofibromas or optic pathway gliomas.	false
+8434e2bcc6d28ebcdd72b44df04fefe4c4cc4523	Increased susceptibility to certain @PHENOTYPICFEATURE$, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by mutations in genes encoding components of the RAS signaling pathway which include Noonan syndrome, Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome), Costello syndrome, Cardiofaciocutaneous syndrome, @DISEASE$, and Neurofibromatosis type 1 (NF1), collectively termed RASopathies.	false
+a71dc9a2182e3c83860d5d1601db04c69df743b3	On multivariate analysis, longer follow-up, 2-site surgery, and grade 4 @PHENOTYPICFEATURE$ density were independently associated with more CEC loss, and longer follow-up, 2-site surgery, and steroid-induced glaucoma were associated with @DISEASE$ area expansion.	false
+1a646d295ae571c76db6c4f16ee3a2789c6a9914	On multivariate analysis, longer follow-up, 2-site surgery, and grade 4 @PHENOTYPICFEATURE$ density were independently associated with more @DISEASE$ loss, and longer follow-up, 2-site surgery, and steroid-induced glaucoma were associated with CEC area expansion.	false
+3b1246b4fa6cd807e5d6844c30ef0ce1888091a0	No differences between BMS and SPMS patients were found when only @DISEASE$ patients with @PHENOTYPICFEATURE$ or those with shorter disease duration (15-19 years) and higher Expanded Disability Status Scale scores (>2.0) were considered.	false
+83dd829ee5f3f8dc8264a2f5d1e8b735343a0f8d	No differences between @DISEASE$ and SPMS patients were found when only BMS patients with @PHENOTYPICFEATURE$ or those with shorter disease duration (15-19 years) and higher Expanded Disability Status Scale scores (>2.0) were considered.	false
+92e7e1eb95fb213d5cfc9c0352cd10661d672b3e	A representative cohort underwent detailed clinical assessment and classified as having @DISEASE$ according to EDSS score <3, no significant fatigue, mood disturbance, @PHENOTYPICFEATURE$ or disrupted employment, and had not received a disease-modifying therapy.	false
+9f13b156e5e258b61afe5a691f3cabcd25298c08	@PHENOTYPICFEATURE$ in @DISEASE$ is associated with the extent of CC damage in terms of both focal lesions and diffuse fiber bundle injury.	false
+930158bbbec24c5de231322140ad5cf403822299	In the 47 cases assessed by @DISEASE$, @PHENOTYPICFEATURE$ was the commonest sign (62%) with half of these cases denying imbalance when asked.	false
+8659b112fdf8d3558efc41bf78836776eda97a4b	The occurrence of @PHENOTYPICFEATURE$ (GTCS) preceded by bilateral myoclonic seizures (@DISEASE$) (p = 0.03), a long duration of epilepsy with unsuccessful treatment (p = 0.022), and AED polytherapy (p = 0.023) were identified as significant predictors for a poor long-term seizure outcome, whereas complete remission of GTCS under AED significantly increased the chance for complete seizure freedom (p = 0.012).	false
+c1ab19959a0c951bf740d71a0ccdb884b8200aeb	The absence of @PHENOTYPICFEATURE$ and a longer disease duration or lower Expanded Disability Status Scale score may identify those @DISEASE$ patients with the potential for a favorable disease evolution.	false
+70a3219d6ddca2f475d71cdac18066220db0b6e2	These findings suggest that fatigue and @PHENOTYPICFEATURE$ are quite frequent in @DISEASE$ patients and are, at least in part, related to micro-structural damage and T2LV of WM tracts connecting the brain cortical and sub-cortical regions of the two hemispheres.	false
+7a47f6be97b6eacd9bb623f86a989aff26fca11f	The commonest @PHENOTYPICFEATURE$ was @DISEASE$.	false
+a0fbed020163f4fe747c8a1fff8f733186e18f75	[@DISEASE$ as secondary @PHENOTYPICFEATURE$].	false
+81a1d0477ccaf87565d82d7c6d63182ea42cc0a1	We describe a patient with unexplained rash, joint pain, and @PHENOTYPICFEATURE$, who subsequently developed a cavernous sinus syndrome due to a central nervous system @DISEASE$.	false
+75ded40c3ba7b1bfccb0d9e429ec80e6a415e6fe	[Fatal @DISEASE$ @PHENOTYPICFEATURE$-embolism].	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+429c03d7f9a8bd8a955ceddd3ab57b819ffb887f	Laryngeal @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+9f95d9c5ff7c67f0de6753c77cf04c589b94ae66	[Costal @DISEASE$ mimicking an abdominal @PHENOTYPICFEATURE$].	false
+2ae6b6e09c206911eee3880c062211dc53e2bb79	Parosteal @DISEASE$ is a @PHENOTYPICFEATURE$ of the soft tissues different from juxta-cortical chondrosarcoma.	false
+d125fdd987b759a0636a3939718ba4781aff464f	Parosteal chondrosarcoma is a @PHENOTYPICFEATURE$ of the soft tissues different from juxta-cortical @DISEASE$.	false
+429c03d7f9a8bd8a955ceddd3ab57b819ffb887f	Laryngeal @DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+9a7a8def2c9c35564d374280e20f8241f0177c14	Intravascular @PHENOTYPICFEATURE$ embolism from @DISEASE$.	false
+b0d46f5a2606911386e6442bbc231ecdc93cd525	This boy's phenotype is intermediate between NS and NSML with @PHENOTYPICFEATURE$, short stature, mild global developmental delay, @DISEASE$ but absence of caf? au lait spots or lentigines.	false
+3219a25a0f84dc14335b2f2efab650bd8edef26d	This study clearly demonstrates that hearing loss develops in infancy in patients with @DISEASE$ and underscores the importance of continued hearing screening beyond newborn period for early intervention of @PHENOTYPICFEATURE$ and communication problems.	false
+d3475bbe1134cd99813592ad41515f20d15d8e56	Treatment with @DISEASE$ improved @PHENOTYPICFEATURE$, adipose tissue inflammation, insulin resistance and hepatic steatosis in both mouse models.	false
+47753fdb36cfe009fa7ec72c29574486cba80794	A two?circRNA signature predicts @PHENOTYPICFEATURE$ recurrence in clinical @DISEASE$.	false
+6724df86b4b78ce26219e6dc84b21e021d178150	Yet no systematic evaluation of lncRNAs has been previously reported for @DISEASE$ (NFPA), a fairly common type of intracranial @PHENOTYPICFEATURE$.	false
+e7b7419fd6e42b10c6b12eec24b8cb9bda5a7b94	The pathological findings indicated @DISEASE$ and thus the @PHENOTYPICFEATURE$ was diagnosed as a supra-diaphragmatic ectopic pituitary adenoma.	false
+f51b65851eada69f94b21e3722abb07f18f7ef1c	Hyperprolactinemia of @DISEASE$ is more likely affected by @PHENOTYPICFEATURE$ growth pattern, such as width/AP diameter ratio, than tumor volume.	false
+f885d4497ee34d01ef8753a2e2f39569646c0302	Hyperprolactinemia of @DISEASE$ is more likely affected by tumor growth pattern, such as width/AP diameter ratio, than @PHENOTYPICFEATURE$ volume.	false
+4d2484c8cae32e414e485ffb28b6fef9c858902c	Thus, CAB might be useful in adjuvant therapy in @DISEASE$ patients with residual @PHENOTYPICFEATURE$ after surgery.	false
+53bfd31beea1d52876d1fe8bc68e9655917c00f4	Fifty @DISEASE$ @PHENOTYPICFEATURE$ tissues obtained from transsphenoidal surgery were used in the study.	false
+da0d0195d0e7f6672916fc5056ff9415c853410e	@DISEASE$ @PHENOTYPICFEATURE$ have a high heterogeneous hormonal profile and may have prognostic importance.	false
+317f0848c450712d116c14d4d1fd9beafa261689	Endoscopic endonasal surgery was performed to remove the @PHENOTYPICFEATURE$ and histopathology findings revealed a @DISEASE$.	false
+888d8420323448f2ecf73848db60a6e989224283	Incidence of malignant @PHENOTYPICFEATURE$ in patients with a @DISEASE$.	false
+fb2b8d0e0d9880c693da02894da47c72fb6e8062	All @DISEASE$ were controlled, with the size of @PHENOTYPICFEATURE$ shrinking significantly in an average of 11.4 months after gamma knife surgery.	false
+1d362e17f474a288a9ed9da84f5e9782e706e2d1	A possible relationship between HSE, heatstroke, @PHENOTYPICFEATURE$ and @DISEASE$ is postulated.	false
+ed889451eeb89ae0b6ed9c199097902cc9e930c1	Natalizumab is administered for the treatment of relapsing-remitting multiple sclerosis (RR-MS) with high disease activity.Natalizumab therapy has been associated with adverse effects, such as @DISEASE$, liver damage, nasopharyngitis, urinary tract infection, urticaria, cephalgia, dizziness, fatigue, nausea, @PHENOTYPICFEATURE$, rigidity, anxiety and gastroenteritis.	false
+ba7b674d6fa79916dbfe2c42e8ce32c284b01496	They presented with @DISEASE$, myelopathy, intractable seizures, acute vasculitis and @PHENOTYPICFEATURE$, hemiplegia, peripheral neuropathy, and paraspinal lymphoma.	false
+d05c761102eea2e3c30b58b397a973b109e854d4	Such an effect on renal development may lead to a wide spectrum of @PHENOTYPICFEATURE$ (@DISEASE$ [CAKUT]), ranging from renal agenesis to a reduced nephron number.	false
+8b18a9d446432ccca7e76a8f56a451db66cfa5ff	Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4417101eaccaa18c58393383b9c42ae91b37a32a	Hepatocyte nuclear factor 1beta (HNF1beta) abnormalities have been recognized to cause @DISEASE$ (CAKUT), predominantly affecting bilateral @PHENOTYPICFEATURE$.	false
+3422798bbf0a3a4b7461bbe0609e9cef4a331029	Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% @DISEASE$, 4,7% congenital heart disease, 4,7% @PHENOTYPICFEATURE$ or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies.	false
+f7d92e0f51d6282dbdda5cff9453dcdedcfab177	Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% @DISEASE$, 4,7% congenital heart disease, 4,7% hearing impairment or @PHENOTYPICFEATURE$, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies.	false
+015582394f61ecfd3f7819143610f1fbb240df76	Patients older than 40 years and those with chronic kidney disease, diabetes mellitus, @PHENOTYPICFEATURE$, associated infections, @DISEASE$ were excluded.	false
+3cfcad05807933eeb6dd9ee3b7b2b5047888a7e2	@DISEASE$ (CAKUT) refer to a spectrum of structural @PHENOTYPICFEATURE$ and are the leading cause of end-stage renal disease in children.	false
+7b2aad88e641ee2401f46cf69551a07dc48f882f	Maternal @PHENOTYPICFEATURE$ is associated with @DISEASE$ in offspring.	false
+e66bb562936f93ba907ffa13867eb664d70ba7cf	In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural @PHENOTYPICFEATURE$, preauricular fistulas, and a wide range of @DISEASE$ (CAKUT).	false
+de2a49e9fcde112ac111fc3813cef33fef327dd1	Among the 42 patients who developed @DISEASE$ had bilateral extracapsular @PHENOTYPICFEATURE$ extraction and intraocular lens implantation, and only 4 (10%) developed secondary cataracts in a median follow-up period of 39 months.	false
+e3e05436e0b97778606148e225c323af6dac6105	Among the 42 patients who developed @DISEASE$ had bilateral extracapsular cataract extraction and intraocular lens implantation, and only 4 (10%) developed secondary @PHENOTYPICFEATURE$ in a median follow-up period of 39 months.	false
+894941609d63ad4e02837d2f5d6b71be22dc9233	A viable autosomal recessive @PHENOTYPICFEATURE$ (named fch, or @DISEASE$) causing jaundice and anemia in mice arose in a mutagenesis experiment using ethylnitrosourea.	false
+6de5d329071aaf6f08b04bbc413102a771ba9b9d	@PHENOTYPICFEATURE$ immune microenvironment in primary and metastatic @DISEASE$.	false
+d01400512e6f0b1c0bbe846385465fb2759db37e	@DISEASE$: correlation of @PHENOTYPICFEATURE$ grade and histologic characteristics with clinical outcome.	false
+0ce2c8559fb1c5496ac24c3053b878adadefe706	Autopsy revealed pulmonary @PHENOTYPICFEATURE$ thrombotic microangiopathy (PTTM) from @DISEASE$.	false
+3df40816fe0a3a0e7aca2de53b959378b808925a	The other @PHENOTYPICFEATURE$ was a bilateral @DISEASE$.	false
+d19a0b94b0fda62c2c31deb05795c93be0ec87dd	[@DISEASE$ and @PHENOTYPICFEATURE$ biology.	false
+4e065072595598581da7941f0cc85f15bb00e741	A biopsy showed the @PHENOTYPICFEATURE$ to be @DISEASE$.	false
+e6c0097e85e52eb49146ec9f762f9f48c090a957	Pathologic examination showed @DISEASE$ with identical histology to the primary @PHENOTYPICFEATURE$.	false
+3cdcf53c14c0d195ff3f1f9da04a9ba31648057a	@DISEASE$: a clinicopathologic and immunohistochemical study of 105 @PHENOTYPICFEATURE$.	false
+e18e6b78c7b22421f6cad8e042504a887d00ad53	Tumor-associated macrophages are involved in @PHENOTYPICFEATURE$ progression in @DISEASE$.	false
+ce922c0d7632535d2653305f4c2f61761167058c	@DISEASE$ (pRCC) accounts for approximately 10% of renal parenchymal @PHENOTYPICFEATURE$.	false
+4e0400f36fd757a9319a0482fe50ee0289039af5	[Contribution to the differential diagnosis of @DISEASE$-like @PHENOTYPICFEATURE$].	false
+3841f2d46b2a22f3fabbf73653cca8716b0dc7d2	No association between objective @PHENOTYPICFEATURE$ response and @DISEASE$ classification was identified by multinomial logistic regression.	false
+be5dfd3f13c0cf8656c80cf3797b6c37ea7415c0	Meanwhile, the prophylactic administration of @DISEASE$ could more efficiently inhibit the growth of S180 @PHENOTYPICFEATURE$ than direct administration of EPS.	false
+2eca2e0a8ed45d942211898bb53a9698e67b7f31	Meanwhile, the prophylactic administration of EPS could more efficiently inhibit the growth of S180 @PHENOTYPICFEATURE$ than direct administration of @DISEASE$.	false
+a65057db4c837508b2ca331d39788885bdf47834	The histological diagnosis was that of @DISEASE$-myoepithelial @PHENOTYPICFEATURE$ (adenomyoepithelioma).	false
+60fc9ebc091d3801389401e7eb684d772063d016	We describe a patient with four types of tardive and persistent @DISEASE$ such as dystonia, dyskinesia, choreatic movement and @PHENOTYPICFEATURE$, induced by haloperidol.	false
+a3da671fe53351385dfcc82918488fdae0758c17	Besides @PHENOTYPICFEATURE$ and long-term exposure to bioincompatibleperitoneal dialysis solutions, a different second hit or several additional hits could be incorporated into an experimental model of @DISEASE$.	false
+35be6a3df536954a8d98b558529c59047f1968a8	[Diagnosis and therapy of @DISEASE$ @PHENOTYPICFEATURE$].	false
+b715f50279440d78d8a3bfab60cb4a9bbb689e15	The authors studied G.C.P.G. in a series of 173 patients amongst 894 with @DISEASE$ type @PHENOTYPICFEATURE$.	false
+1e7186cc3a34feff3eae10396364dd350d50735c	Spondylo-@DISEASE$-metaphyseal dysplasia is a rare @PHENOTYPICFEATURE$ showing radiographic abnormalities in the epiphyses and metaphyses of the long and short tubular bones, and in the spine.	false
+6453ecb89e1f8c008f11bb3cf82020484946f601	@DISEASE$-oesophageal cancer with special reference to @PHENOTYPICFEATURE$ of the post cricoid region.	false
+e56700092a2b775eba4725baa4a0b24875340d68	Overweight/@PHENOTYPICFEATURE$ is relatively common in sub-Saharan African children and prevalence is associated with @DISEASE$.	false
+521b39663ff46fa85448b4d99edfb993b452e54a	The risk of overweight/@PHENOTYPICFEATURE$ was 2.40 (95% CI 1.70, 3.40) higher in @DISEASE$ children compared to LSES after adjusting for age and gender.	false
+347f59dd907643104660efc623a5cdbf10ba527f	This phenomenon precedes recurrent (secondary) seizures, the latent period (period without seizures) and downstream appearance of spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$).	false
+ac9e5dc52638a8a910b31e9e7bb16f1b943aca81	This phenomenon precedes recurrent (secondary) seizures, the latent period (period without @PHENOTYPICFEATURE$) and downstream appearance of spontaneous recurrent seizures (@DISEASE$).	false
+accd498aa872ee5c940e4e0aa7014187951eadc0	This phenomenon precedes recurrent (secondary) @PHENOTYPICFEATURE$, the latent period (period without seizures) and downstream appearance of spontaneous recurrent seizures (@DISEASE$).	false
+2e2e7a44ae3304030dd40a6e650bd4ecef892e61	Furthermore, the frequency of @DISEASE$ was much lower than the frequency of early @PHENOTYPICFEATURE$.	false
+5de44a5e19a1d390b896dbfcc26ca279d592e916	Epilepsy with spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) was induced by status epilepticus.	false
+96750f2b178eed0f24c269e586e0b84f81e9646e	Acute @PHENOTYPICFEATURE$ and spontaneous recurrent seizures (@DISEASE$) were assessed by videotape techniques.	false
+3cf2b8753b485cea034fd906d469b3b24473a696	Acute seizures and spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) were assessed by videotape techniques.	false
+924c640e38e304c4461db5f86ee9ed9c77b9c234	Then, spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$), neuronal loss and astrogliosis were assessed.	false
+d4b6fac6b72257cc03ea85d8537f5dcf49041798	17p13.1 microduplication in a boy with @DISEASE$ features and @PHENOTYPICFEATURE$.	false
+13d0578ddbbd8d56fb6ee458fd80254213d8cf91	Spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) are the major clinical characteristic of epilepsy.	false
+cd4a458cf5074bc232021a0d5ab33324ac45c9a2	Ultimately, these modifications result in the development of spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$).	false
+8c39e04e3373da07fc3d09ff08433a411dd36063	Spontaneous recurrent seizures (@DISEASE$) were monitored using Racine's @PHENOTYPICFEATURE$ severity scale.	false
+369442e7cf7b54fcce17ec2cce198555c9504fee	Spontaneous recurrent @PHENOTYPICFEATURE$ (@DISEASE$) were monitored using Racine's seizure severity scale.	false
+59a1d2f9d0a77fce09b452f87c7d6b520b307bf5	No @PHENOTYPICFEATURE$ developed after @DISEASE$ in patients who had been seizure free before treatment.	false
+e9640f31ee047bfa3455c3959673a14fe049134a	No seizures developed after @DISEASE$ in patients who had been @PHENOTYPICFEATURE$ free before treatment.	false
+20e9314163ccf2cc4e0fe34db193d0957d467bd7	@PHENOTYPICFEATURE$ and ulcers on the legs and dilated abdominal veins caused by thromboembolism of inferior vena cava in a patient with @DISEASE$.	false
+bd290817e62e98439d139d24b8a3fa1a923e2926	Mutations in SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as @DISEASE$, @PHENOTYPICFEATURE$ and Leigh syndrome.	false
+7575fe0e0cf9eb033ad5699bbf2af2b56728cd03	Mutations in the SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as @DISEASE$, @PHENOTYPICFEATURE$, and Leigh syndrome.	false
+a796fd1e6b7382b380e0bb39f9a993eef0d4c675	The major features of this syndrome are @DISEASE$, polydactyly, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, @PHENOTYPICFEATURE$, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness.	false
+aa54ec81a8d5f53c6e4b3f281646b5a6c62dccda	Spinal chronic subdural hematoma mimicking intradural @PHENOTYPICFEATURE$ in a patient with history of @DISEASE$: case report.	false
+1c5f8086f303789e50d1a7ca23bcb4945f8d751e	The aneurysm presented as an 18-cm mass that was initially suspected to be a hematoma or @PHENOTYPICFEATURE$ on the basis of the complex medical history of the patient, which included @DISEASE$ and testicular cancer.	false
+45e8a45b784cd26247c9ea72b7776d2524b8d71a	Subcutaneous implantation of B16F10 cells into mice with @DISEASE$ gave rise to primary @PHENOTYPICFEATURE$ in an exponential growth pattern similar to that observed in non-hemophilic mice.	false
+b8b1867b59a7fca5f0b84222a5ff6c3d7041a2fb	Bleeding prophylaxis in a child with @PHENOTYPICFEATURE$ and @DISEASE$: a case report.	false
+6d6d578fe34b303485ae0de542d1ec68cffedf6b	The case of a child with @PHENOTYPICFEATURE$ and @DISEASE$ who successfully underwent palatoplasty is described in this article.	false
+1f3f8d23fc09116e96c0bcfb91a1c941519e0ec2	Repair of a @PHENOTYPICFEATURE$ in a child with @DISEASE$.	false
+2132459c221b8b30d73be2c04ff8547cfe54761c	[Effective combined treatment of thymus carcinoma with complete eradication of @PHENOTYPICFEATURE$ after neoadjuvant therapy in a patient with severe form of @DISEASE$].	false
+9406080dcfeaeeaef877638ddabeea650f37fe8b	Experimental metastasis and primary @PHENOTYPICFEATURE$ growth in mice with @DISEASE$.	false
+b6d6a0bbd0f94f09fe16c735aded902c8e993d30	The association between @DISEASE$ and @PHENOTYPICFEATURE$ has never been described.	false
+8eb00b8c9a792ed7b99648982534e1fbf424e955	Here we report on a 74-year-old multimorbid patient with severe ulcerative colitis (UC) and @DISEASE$. Because of the chronic active disease, therapy with a @PHENOTYPICFEATURE$ necrosis factor-? inhibitor was started.	false
+724fc4a23456a4df2a623ba2c1d626c4296e03b5	Severe neurological symptoms including mental retardation, @PHENOTYPICFEATURE$, and hypogonadism invoke @DISEASE$ (DCS).	false
+ba9720e3a54415701358ee5d75a1279232406ba9	Univariate analysis showed that risk of ulceration increases with loss of sensation; abnormality of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+740d41e2104a9f746f594bb418ad5e713ebc2d95	We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/@PHENOTYPICFEATURE$ disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the @DISEASE$ (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2;	false
+887c5ff1428951ea97640445cabce0dabd9b0446	@DISEASE$ (DC) is an inherited bone marrow failure syndrome and telomere biology disorder characterized by @PHENOTYPICFEATURE$, reticular skin pigmentation and oral leucoplakia.	false
+10a5846754b3e56ba4310d9525e991b170f4f1a8	We report on several members of a family with varying degrees of X-linked @PHENOTYPICFEATURE$ (XLMR), isolated growth hormone deficiency (@DISEASE$), and infantile behaviour but without other consistent phenotypic abnormalities.	false
+b31be26f67b12474015d30d385daeff9fba7c292	We report on several members of a family with varying degrees of X-linked @PHENOTYPICFEATURE$ (XLMR), @DISEASE$ (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities.	false
+18ea20f57b8ba78b114033de9f872d3096cd5157	Herein, we report a Japanese boy who presented with @DISEASE$ with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, @PHENOTYPICFEATURE$ and dysmorphic facial features including mid-facial hypoplasia.	false
+a9f18d1af0faff3b5b39966231f4e4567fe22c56	have been associated with X-linked @PHENOTYPICFEATURE$ and @DISEASE$ (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000).	false
+c3e738d5227b4eea967c12398f9784dde9e9f42c	Familial X-linked @PHENOTYPICFEATURE$ and @DISEASE$: clinical and molecular findings.	false
+9515cab6d41741c597879ce73e73570e66be1fe0	X-linked @PHENOTYPICFEATURE$ with @DISEASE$ is mapped to Xq22-Xq27.2 in one family.	false
+69c6557ec31bf6ff5c176de51fc2febc6a8faa37	We provide an overview of sleep microstructure alterations observed in three NDDs without intellectual disabilities (attention-deficit/hyperactivity disorder, high-functioning autism/@DISEASE$ and developmental @PHENOTYPICFEATURE$) and their relationships with the disorders' phenomenology.	false
+05645439fd66c4a4aded5bff19ef5092b62a8d42	A cohort of 30 right-handed patients (21 males, 9 females) with psychiatric disorders (mainly with panic and anxiety disorder, @DISEASE$ as well as with phobic anxiety disorders, schizophrenia, bipolar affective disorder, obsessive-compulsive disorder, nonorganic @PHENOTYPICFEATURE$, and moderate depressive episode) were examined using the dense array EEG amplifier in the P300 experiment.	false
+c295460a06eaaf6f8320206e5aae7b5a7c4b1471	A complex pattern of neurological dysfunctions with @PHENOTYPICFEATURE$ and visual allucinations, but without focal signs, suddenly arose 20 days after an unrelated bone marrow transplant for @DISEASE$ (CML) in a 13-year-old girl, accompanied by signs of acute skin graft-versus-host disease (GVHD).	false
+252e948d7b4de297efe3d6279eed7690817826c2	Neurological manifestations, including @PHENOTYPICFEATURE$, encephalopathy and cerebral thromboembolic or hemorrhagic disorders, can exist with @DISEASE$.	false
+3daa080d6c27e845bbe171d0c93bf51b0b99c84d	Most of the disorders studied were myoclonic disorders, such as @DISEASE$, the opsoclonus-myoclonus syndrome, and essential myoclonus, but other @PHENOTYPICFEATURE$, interictal seizure disorders, and different neurological and nonneurological disorders were also included.	false
+552094730fe71d6280cfc96e8eb45754a9eca6b9	In this systematic review we find favorable evidence for the use of NAC in several psychiatric and neurological disorders, particularly @PHENOTYPICFEATURE$, Alzheimer's disease, cocaine and cannabis addiction, bipolar disorder, depression, trichotillomania, nail biting, skin picking, obsessive-compulsive disorder, schizophrenia, drug-induced neuropathy and @DISEASE$.	false
+31301c92120514d1b50cd61aca44c27cae4f695e	We have discovered a "new" variant of @DISEASE$ which is characterized by the absence of @PHENOTYPICFEATURE$, an enzyme activity of about 50% of the normal value, and distinctive thermolability under specific conditions of heat inactivation.	false
+a98287f863cfe61b99650d64ce773ebc2ef6e8fc	In utero, @DISEASE$ environment has been reported as a risk factor for neurodevelopmental disorders such as @PHENOTYPICFEATURE$ and neural tube defects.	false
+46ce260c5bb87d88c2c6bb7b2eba2cb31db9e5ec	Short children can be screened for GHD using growth rate and IGF I. Magnetic resonance imaging can then be used to detect @DISEASE$ or a @PHENOTYPICFEATURE$.	false
+5733847dd2de92315117f737ce163ba6649e91a7	Cyp1a1/1b1(-/-) mice showed no @DISEASE$ @PHENOTYPICFEATURE$ but instead developed squamous cell carcinoma of the PGD.	false
+2093f7487975c5918528baf0fef9d90a505b0afb	Strong agreement was obtained for the 8 conditions selected by the experts among the 133 possible: celiac disease, Crohn disease, craniopharyngioma, @PHENOTYPICFEATURE$, Turner syndrome, growth hormone deficiency with @DISEASE$, infantile cystinosis, and hypothalamic-optochiasmatic astrocytoma (in decreasing order of agreement).	false
+6a49b4b5d068600e750b9ae7b5315baf9e0ab4b7	To evaluate the (1) relationship between FA presentation, including @PHENOTYPICFEATURE$ and @DISEASE$ (PSIS), (2) markers of growth hormone (GH) deficiency and gonadal function, and (3) factors influencing final height and gonadal function.	false
+659510446d9a5e6e4776148fb823c8fbe48dd65c	@PHENOTYPICFEATURE$, medial plantar lipomatosis, and developmental delay were observed in this case and are identical to documented findings of @DISEASE$ diagnosed in 3 boys.	false
+21957fb05b791ab5c1d0d25f61a941f4c4e1bafb	Increased homozygosity in the first Hispanic patient with plantar lipomatosis, @PHENOTYPICFEATURE$, and developmental delay (@DISEASE$): a case report.	false
+0c96ddbd020be7da770f3b2ef1c33529953aa670	Plantar lipomatosis, @PHENOTYPICFEATURE$, and developmental delay: confirmation of @DISEASE$.	false
+13684f4bf0a91dd12b6c3c2fafabe973ff02f83c	DD/ID were present in 80%, @PHENOTYPICFEATURE$ in 52% and @DISEASE$ in 32%.	false
+d36f79f5b1682997fcd8bf4317c64f584df07641	In addition, one of the affected children carries a rare deleterious de novo @PHENOTYPICFEATURE$ in the @DISEASE$ candidate gene RIMS1.	false
+ecbf3284a15bf427b05879c66a40f62835f7773e	Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and @DISEASE$, share striking features, including @PHENOTYPICFEATURE$, microcephaly and short stature.	false
+dc2742daa92770de6592bd722cf96d32307c5d7a	Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and @DISEASE$, share striking features, including facial dysmorphisms, microcephaly and @PHENOTYPICFEATURE$.	false
+5d47f3435f05c98ba2c847e178227346cb56ffbd	After sequencing an additional 47 @DISEASE$ samples, we identified three different missense mutations in ANK3 in four unrelated ASD patients, one of which, c.4705T>G (p.S1569A), is a de novo @PHENOTYPICFEATURE$.	false
+37a317e121ea4af905a5ce07b1e7b1a61ef3aad7	After sequencing an additional 47 ASD samples, we identified three different missense mutations in ANK3 in four unrelated @DISEASE$ patients, one of which, c.4705T>G (p.S1569A), is a de novo @PHENOTYPICFEATURE$.	false
+e1008cb2a6ec37637b4e35f4406a204a574c3783	@PHENOTYPICFEATURE$ were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (@DISEASE$), and 6 cases of patent foramen ovale (PFO).	false
+95e48ece9e6165a683e882dd3e4d7c25e6ad6f94	Genetic evidences suggest that SETD5 malfunction contributes to @DISEASE$ phenotype, such as on intellectual disability (ID) and @PHENOTYPICFEATURE$.	false
+1e5f71ccbcd358a066ba8d01f53ede509bc9bbdf	She presented for clinical evaluation of @PHENOTYPICFEATURE$, developmental delay, atrial septal defect (@DISEASE$), and left hydronephrosis.	false
+fe245d539dec0d62c949a2920cb214dde0ed8789	She presented for clinical evaluation of @PHENOTYPICFEATURE$, developmental delay, @DISEASE$ (ASD), and left hydronephrosis.	false
+01e688bc6464b2f09db073facc609f4aa093ef64	Additionally, deep phenotyping revealed overlapping behavioral problems (@DISEASE$, ADHD, and anxiety disorders), hypotonia, broad-based gait, facial dysmorphisms, and periods of @PHENOTYPICFEATURE$ and vomiting.	false
+4af40f8841d115cb0a39aacd559e6105173eee7e	Additionally, deep phenotyping revealed overlapping behavioral problems (@DISEASE$, ADHD, and anxiety disorders), hypotonia, broad-based gait, @PHENOTYPICFEATURE$, and periods of fever and vomiting.	false
+baf0df804954c417ed7ad658da3645e9a50f945c	Our hypothesis was that conditions leading to intrauterine @PHENOTYPICFEATURE$ or neonatal hypoglycemia would influence @DISEASE$ pathogenesis.	false
+94662b056de36bdcea9a94262b7f5a07152ad3a5	A de novo @PHENOTYPICFEATURE$ in NKX2.5 associated with @DISEASE$, ventricular noncompaction, syncope and sudden death.	false
+6d16171915b2b21dc9b825f04d499472f6cacd31	In a patient with the clinical features of the iris @DISEASE$ syndrome who was treated for glaucoma a @PHENOTYPICFEATURE$ developed later.	false
+4f17c3146b4dbf1421de8e9bc6646a769c754182	@PHENOTYPICFEATURE$ and recurrent melena which refers to a @DISEASE$ syndrome.	false
+f48b147ff37037d965e94bb8054df4b2d311f049	The eyes with transparent lenses in some old mice retained this tissue and a retrospective study revealed that @PHENOTYPICFEATURE$ @DISEASE$ occurred in eyes without this tissue.	false
+a6da06bf8dcb8cc88ae70dc0413a1676c4e5a1e0	@PHENOTYPICFEATURE$ @DISEASE$ significantly modified the strength of the reflex or its threshold.	false
+9760dc02115c7686061a0e6125e154661b8785b1	@DISEASE$ mimicking metastatic testicular @PHENOTYPICFEATURE$.	false
+c1ea2fff8b2d8beb775f977f6a9182e9d4b20e47	@DISEASE$ @PHENOTYPICFEATURE$ in skeletal muscle.	false
+5fa637c8f2df76403fcd342928e568b8f2e7e684	@DISEASE$ @PHENOTYPICFEATURE$: continuing diagnostic problems in the MRI era.	false
+1c61fdd426e87dc74cbd8e4947de7b8bb0e2d7cb	@DISEASE$ patients frequently experience fatigue, exercise intolerance and @PHENOTYPICFEATURE$, resulting in reduced quality of life (QOL).	false
+b5ae5568be379f6f46a7e0883e33dac12e52f11e	Symmetrical muscle @PHENOTYPICFEATURE$ in tumorous @DISEASE$: report of a case.	false
+42c30b2de567af7da5c5899e59594af6226417c1	@DISEASE$ @PHENOTYPICFEATURE$ of knee.	false
+aeee43866de60a5e0df04731b39a2ce4a094d781	Extramedullary @DISEASE$ lesion mimicking intraspinal @PHENOTYPICFEATURE$.	false
+548ae0bf32ee659b4bcff92ed4958ac389986a72	12 horses with @DISEASE$ @PHENOTYPICFEATURE$ and 15 control horses.	false
+ec0ff2424e842c96da150d0405ae1a8e933feb7e	Therefore paralysis, atrophy and @PHENOTYPICFEATURE$ is rarely discovered in this kind of @DISEASE$ myopathy.	false
+5994915ca683e523a6d293c64f3a98cd2f5548ae	Colonic @DISEASE$ presenting multiple submucosal @PHENOTYPICFEATURE$-like lesions.	false
+af82bac6c28f45868a2f7e28567b6c9f56f1fd3d	The McKusick-Dungy-Kaufman syndrome is characterized by hydrometrocolpos, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ab2e97075a0ab0056602206c8626771a7b4bd9bf	We report a case with renal hypoplasia, @PHENOTYPICFEATURE$, @DISEASE$.	false
+a47b9cd39bae8d4bff6dbb01c82056a8f06cad4c	@DISEASE$, diaphragmatic hernia, @PHENOTYPICFEATURE$, and skeletal anomalies have been reported but appear to be less frequent clinical manifestations.	false
+5a20d93d5bd5c2e84c20b9393bc23b668d14e2cb	Familial holoprosencephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+1f7483301fd937e3070f1bd3614fe4a93558ddb8	Haploinsufficiency of USP9X in females has been associated with ID and congenital malformations that include @DISEASE$, scoliosis, dental abnormalities, @PHENOTYPICFEATURE$, polydactyly, Dandy Walker malformation and hypoplastic corpus callosum.	false
+65a3a7324698961dc468709b53dec791eb3ad981	Haploinsufficiency of USP9X in females has been associated with ID and congenital malformations that include @DISEASE$, scoliosis, @PHENOTYPICFEATURE$, anal atresia, polydactyly, Dandy Walker malformation and hypoplastic corpus callosum.	false
+e4997b495ec5aa6109572be1516d030647fa2d56	Haploinsufficiency of USP9X in females has been associated with ID and congenital malformations that include @DISEASE$, scoliosis, dental abnormalities, anal atresia, @PHENOTYPICFEATURE$, Dandy Walker malformation and hypoplastic corpus callosum.	false
+8285a4caaa3f943c2bba858740543add0fd71537	@DISEASE$, unilateral @PHENOTYPICFEATURE$, and neuroblastoma.	false
+22728d0eda9e6db167ba8620a9f7993635febdb2	We found that patients with duplication of the region have varied clinical features including behavioral abnormalities, cognitive impairment, @DISEASE$ and skeletal manifestations, such as hypermobility, craniosynostosis and @PHENOTYPICFEATURE$.	false
+9082cb4486e9c0b9c86a54b8a01cf74cfbca28dc	We found that patients with duplication of the region have varied clinical features including behavioral abnormalities, @PHENOTYPICFEATURE$, @DISEASE$ and skeletal manifestations, such as hypermobility, craniosynostosis and polydactyly.	false
+42fb8f848d56dbd35bc61a37a951d1d0e6151e6c	In addition, there was variable presence of @PHENOTYPICFEATURE$, absent pituitary, and @DISEASE$.	false
+04b6843539e538e5b98137a20e00aacb7ddb3036	Unknown syndrome: holoprosencephaly, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+abc3af00f9cc1de68f97ac511b53835f7e7096a3	Cleft palate, @DISEASE$, absent tibiae, and @PHENOTYPICFEATURE$.	false
+9edaf749da2d2809d3fdffdacfe37b904fa93f7d	[A 65-year old jaundiced patient with weight loss, @PHENOTYPICFEATURE$ and @DISEASE$].	false
+603ff23f8d6c1ce286a49ae502ffac4615999f5e	P?<?0.001) after adjusting for diabetes, hypertension, coronary heart disease, obesity, @PHENOTYPICFEATURE$, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraine, @DISEASE$, allergy, endometriosis, asthma, overactive bladder, tobacco use disorder, and alcohol abuse.	false
+3cc93304c0ee2bfa6644679c2a34c1c3a837087a	Elderly patients showed less pronounced female predominance and less often presented with malar rash, nephropathy, @PHENOTYPICFEATURE$ and lymphadenopathy, while lung involvement, pericarditis and @DISEASE$ were more frequent.	false
+2f10f33158c6263db864b9e6c05618eb5e62e40d	After adjusting for co-morbidities like diabetes, hypertension, coronary heart disease, obesity, @PHENOTYPICFEATURE$, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, asthma, tobacco use, and alcohol abuse, the Cox proportional hazards regressions revealed that the hazard ratio for BPS/IC among subjects with endometriosis was 3.74 (95% CI?=?1.76-7.94,	false
+92baa09fc25910598ecb262d8928283d672c025b	We report a case of a concomitant SLE and Amylo?dosis in a 57 year old female patient with hypothyroidism history, who presented with erythema nodosum, @PHENOTYPICFEATURE$, arthralgia and @DISEASE$.	false
+93ed35725b9fcd7341a3b569003066a620ae167c	compared to controls after adjusting for diabetes, coronary heart disease, obesity, @PHENOTYPICFEATURE$, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, and asthma.	false
+433c2b65d7704ccbb09b8ee7286931da7bcca097	In our patient, cryptogenic multifocal ulcerous stenosing enteritis was associated with @PHENOTYPICFEATURE$, asthma, Raynaud's phenomenon, @DISEASE$, heterozygous type I C2 deficiency (28-base pair gene deletion), stenosis, and aneurysms in selective mesenteric angiography.	false
+134aab75c7c7da82ec97f0d1b88a620129238399	After adjusting for diabetes, hypertension, coronary heart disease, obesity, @PHENOTYPICFEATURE$, chronic pelvic pain, irritable bowel syndrome, fibromyalgia, chronic fatigue syndrome, depression, panic disorder, migraines, @DISEASE$, allergies, endometriosis, asthma, tobacco use disorder, and alcohol abuse, the stratified Cox proportional hazards regressions revealed that the hazard ratio for BPS/IC among subjects with OSA was 3.71 (95% CI = 1.81-7.62,	false
+a7e0f30f8694b70e97be8f114640a865feb1d64e	No differences were found in the genotype distributions and minor allele frequency of GPNMB rs156429 between PD patients and HCs, between SALS patients and HCs, between @DISEASE$ patients and HCs, and between subgroups of PD, ALS and MSA patients with regard to clinical features such as sex, age of onset, presence or absence of @PHENOTYPICFEATURE$, depression and anxiety.	false
+8c7cf7f5f01729de2c00ea9689dd6592dad72fc4	No differences were found in the genotype distributions and minor allele frequency of GPNMB rs156429 between PD patients and HCs, between SALS patients and HCs, between MSA patients and HCs, and between subgroups of PD, ALS and @DISEASE$ patients with regard to clinical features such as sex, age of onset, presence or absence of @PHENOTYPICFEATURE$, depression and anxiety.	false
+b2ab1eb119dbcc0442e91ce706d1943324f44223	@PHENOTYPICFEATURE$ is common in Chinese @DISEASE$ patients.	false
+72649940d604838cb5cc58a03f4dda8f340bf5f8	Furthermore, an inverse correlation between either NE or MHPG levels and the duration of the orthostatic hypotension was found in @DISEASE$ patients while for DAT patients the MHPG levels were directly correlated to the severity of @PHENOTYPICFEATURE$, and inversely to the duration of illness.	false
+81d3f6f931e26afba3d356812866868d26a75f10	The differential diagnosis includes cerebro-oculo-facio-skeletal syndrome (COFS); a syndrome involving cataract, arthrogryposis, microcephaly, and kyphoscoliosis (CAMAK); a syndrome with cataract, microcephaly, @PHENOTYPICFEATURE$, and kyphoscoliosis (CAMFAK); Martsolf syndrome; Neu-Laxova syndrome; Lenz @DISEASE$; and Smith-Lemli-Opitz syndrome.	false
+f7696f2a9a7c375498442887ae0631989cc0e0f6	Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as @DISEASE$, congenital heart defects, corpus callosum agenesis and @PHENOTYPICFEATURE$.	false
+82c8e7ed5e46247de26490fca564a279e730f08d	No patient had muscle @PHENOTYPICFEATURE$ or @DISEASE$.	false
+acf998ce14dde267b6d5a576887b546f49df4cc4	Missense mutations in the human GPI biosynthesis enzyme pigv are associated with a multiple congenital malformation syndrome with a high frequency of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+cf9f3101f180079f42c30df9d9fbff9c1f5602ce	Individuals with this presentation can have, in addition to skeletal sclerosis, @DISEASE$, @PHENOTYPICFEATURE$, cardiomyopathy, and neuromuscular anomalies.	false
+6966ccbf3bdd6df5f0cc3079514f4adebb096714	In 1981, Goldberg and Shprintzen described siblings with short-segment @DISEASE$, @PHENOTYPICFEATURE$, microcephaly, mild mental retardation, short stature and distinctive facial appearance.	false
+35da260a290b396a289fb8777d29effa4803a195	The main manifestations include hypoplasia of the corpus callosum and/or @PHENOTYPICFEATURE$, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and @DISEASE$.	false
+1d52176fa2b1818ad87eaf3b49e8f68b05f846b0	CCHS can also occur with @DISEASE$ and @PHENOTYPICFEATURE$ derived from the neural crest.	false
+4cf6e516750211d6d645fab2c4bd4a4e15a8274c	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and @PHENOTYPICFEATURE$ or small kidneys, with or without @DISEASE$ and cleft palate or cryptorchidism.	false
+66768efd6673fe1e035a9c374aaa17f3de350fdb	BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without @DISEASE$ and @PHENOTYPICFEATURE$ or cryptorchidism.	false
+83214a78de8f68e6ef49c72c07fb63d89bcfb68d	The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including @DISEASE$, @PHENOTYPICFEATURE$, congenital heart disease, agenesis of the corpus callosum, and eye defects.	false
+80d718466fd850cf7bf922c15698b258127ccf76	The acronym BRESEK reflects the common findings, whereas BRESHECK denotes all manifestations of both patients: brain, retardation, ectodermal dysplasia, skeletal deformities, @DISEASE$, ear/eye anomalies, @PHENOTYPICFEATURE$/cryptorchidism, and kidney dysplasia/hypoplasia.	false
+223607a0d9bf947d118c50218b7f3a668122a9fb	The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic disease, @DISEASE$, both of which are characterised by an active @PHENOTYPICFEATURE$ and regeneration process.	false
+1588b0122cb80d001294a2ceaa5ee606175ee589	Two other conditions have been shown to map to this region or to the homologous region in mouse: a gene for a form of autosomal recessive distal muscular dystrophy, @DISEASE$, shows linkage to the same markers on chromosome 2p as LGMD2B, and an autosomal recessive mouse mutation mnd2, in which there is rapidly progressive paralysis and @PHENOTYPICFEATURE$, has been mapped to mouse chromosome 6 to a region showing conserved synteny with human chromosome 2p12-p13.	false
+f55028bd247291a132c673317bb363dad8a1fae3	All patients in the limb-girdle muscular dystrophy 2B family showed apparent proximal dominant @PHENOTYPICFEATURE$ and weakness, whereas a patient with @DISEASE$ in the second family showed distal muscle involvement at an early stage.	false
+a3a777d389113da1ac731b23cf4c4d9fc52a786e	@DISEASE$ (MM) is an early adult-onset, autosomal recessive disorder characterized by weakness and @PHENOTYPICFEATURE$ starting in the distal muscles.	false
+de2a3fec5833e8db4ddb711191cd9cca3058664e	The acquired @PHENOTYPICFEATURE$ incidence rates for the @DISEASE$ and comparison cohorts were 1.12 and 0.83 per 1000 person-years, respectively.	false
+646d80c6d3a145cb1de533e82236c44186d13605	The human menopause transition and aging are each associated with an increase in a variety of health risk factors including, but not limited to, cardiovascular disease, @DISEASE$, cancer, diabetes, stroke, sexual dysfunction, affective disorders, @PHENOTYPICFEATURE$, and cognitive decline.	false
+39d9c3155ac8e35b76419e110309a313ddc618ce	Nonunion, infection, @PHENOTYPICFEATURE$, deformity, and @DISEASE$ were all addressed simultaneously.	false
+3385f21a36947f094f2372e71e94407139b4d8c3	Our cohort study indicated that patients with @DISEASE$ had a 1.31-fold increased acquired @PHENOTYPICFEATURE$ risk relative to the comparison cohort.	false
+ac40f8a17ccc3ffa45c9d76ac79adb3775b4cb87	Werner's syndrome associates early aging in young adults, small height, cataract, glucose intolerance, hypogonadism, @PHENOTYPICFEATURE$, vascular calcifications and @DISEASE$.	false
+89e5f772c349bc8a5bb5f606c7ac4d89fc4e0983	The mean vasculitis damage index score was 1.9?1.9; the most frequent sequelae were @PHENOTYPICFEATURE$, hypertension and @DISEASE$.	false
+75a3933bb0945f83e2953d4aa7625232667b9e9e	The menopausal transition is marked by intense hormonal fluctuations, and may be accompanied by vasomotor complaints, @PHENOTYPICFEATURE$, changes in sexual function, and increased risk for @DISEASE$ and cardiovascular disease.	false
+677ea949cc399460e0c28259430ed18c56795032	Selected chronic complications associated with ART include lipodystrophy, hyperlipidemia, insulin resistance and diabetes, @PHENOTYPICFEATURE$, and bone disorders such as osteopenia/@DISEASE$.	false
+da9eff0093c4ea2b6110bcd4b6b7e5180433c1ac	We propose that R. rosea be investigated for use as a potential selective estrogen receptor modulator (SERM) in the prevention and treatment of menopause-related fatigue, stress, depression, cognitive decline, @PHENOTYPICFEATURE$, cardiovascular disease, @DISEASE$ and cancer.	false
+0888a05b1d93aa6210190344dd11fc3cdb5ca280	Based on Danish national registers, we report a time- and dose-dependent increased risk of @PHENOTYPICFEATURE$ in @DISEASE$ patients treated with bisphosphonates.	false
+1991243852eb079211ac06187a9d6123d671db38	Common examples of skin conditions which can be prenatally diagnosed include epidermolysis bullosa, oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$ in which the severity of the clinical phenotype appears to justify PND in families at risk.	false
+f6d461b5552d1977437fd87c59c505c79b76c292	The major indications for FSB were epidermolysis bullosa (EB) (138 cases, including 88 junctional and 48 dystrophic), ichthyoses (37 cases, including 22 tests for @DISEASE$) and oculocutaneous @PHENOTYPICFEATURE$ (12 cases).	false
+13602602a75ca1afd64d14a51034a30a142994d3	An inborn @DISEASE$ of purine metabolism, deafness and @PHENOTYPICFEATURE$.	false
+f6503885fd0a8f976851785de2257b492e258643	Children with inborn @DISEASE$ of urea synthesis who survive neonatal hyperammonemic coma commonly exhibit cognitive deficits and @PHENOTYPICFEATURE$.	false
+76da5aba5fc6428040f802f134871bad75a65792	The Environmental Rating Scale (@DISEASE$): a measure of the quality of the residential environment for adults with @PHENOTYPICFEATURE$.	false
+c432b2f4d6797704da15313910b23086c7c6fae7	In conclusion, we describe an inborn @DISEASE$ of glutamate metabolism caused by a GLS @PHENOTYPICFEATURE$ variant, illustrating the importance of balanced GLS activity.	false
+7c47813c17e804ae046920784b38cfc41942c22c	The association between embryonic @DISEASE$ and the development of @PHENOTYPICFEATURE$ has been recognized in the literature, but the mechanism underlying this association remains unknown.	false
+a124bfff8093cac6d0d63617d13b4e593912dadf	beta-Ureidopropionase deficiency: an inborn @DISEASE$ of pyrimidine degradation associated with @PHENOTYPICFEATURE$.	false
+c53b0b38961cb7b5432f2e40e34a99fbeb64c5dd	This is of special interest since inborn @DISEASE$ of folate metabolism are often associated with severe @PHENOTYPICFEATURE$.	false
+1ee6dfb931221c3bdb22b1ca0c8e07c06f8bb6f9	@DISEASE$ @PHENOTYPICFEATURE$ disclosing Graves' disease and paralleling thyroid function but not autoantibody levels.	false
+8d3e74c399436ce4ceafb14a27b4f6612835543e	Seven patients, six boys and one girl, ranging in age from 2 years 7 months to 5 years 6 months at first contact, presented with severe @PHENOTYPICFEATURE$ and dysphasic @DISEASE$.	false
+01a5a556201bea6e5539c192119dc98b3f7687f9	This article provides an overview on @PHENOTYPICFEATURE$ present in childhood secondary to inborn @DISEASE$ of metal transport and neurotransmitter metabolism.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+b86c81b85431f627fc470b8b9e175716ddd0d791	@DISEASE$ and renal failure as an unusual presentation of solid @PHENOTYPICFEATURE$.	false
+3e1b147d62a36e827df957f0b1e6f82139958b03	@DISEASE$ and @PHENOTYPICFEATURE$ as an unusual presentation of solid tumour.	false
+7057e68fa0b7b02a812d0a840a89dbe0ba6706df	A fatal outcome occurs within five years in the majority of those with diffuse proliferative lupus nephritis and the @DISEASE$, often in association with necrotizing renal vasculitis, severe hypertension and accelerated @PHENOTYPICFEATURE$.	false
+1ccb8bf299185baa565867aba512508f80a518c8	A fatal outcome occurs within five years in the majority of those with diffuse proliferative lupus nephritis and the @DISEASE$, often in association with necrotizing renal @PHENOTYPICFEATURE$, severe hypertension and accelerated renal failure.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+d4d13ee9528514673ccfd2faa332184240907a8d	Laboratory findings revealed, among others, proteinuria, @PHENOTYPICFEATURE$ and hypoproteinemia defining @DISEASE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+b6164aae1a54572ebe45bf25f3046831fd902414	Oliguric @PHENOTYPICFEATURE$ in the @DISEASE$.	false
+d11684c018b657292db4ea9e2f3aa7ffe0a5a2a2	@PHENOTYPICFEATURE$ in minimal change @DISEASE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+78cdce525ebb818d2e7c6fcf46537a91937341a0	@DISEASE$, hypertension and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+71a61ac5f8c78ad4e3b206b9ada8f9edbb11d4ba	The incidence of @PHENOTYPICFEATURE$ in @DISEASE$ was 17.7% vs. around 1.5% in the normal population (P < 0.0003).	false
+3f11415080c61f190121fa88fdecb0cf56507cc4	Spectrum of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+c29b18ee9a73c20264e70ed88e687cf6a28c8433	Individuals with @DISEASE$ (WS) have impairments in visuospatial tasks and in manual visuomotor control, consistent with parietal and @PHENOTYPICFEATURE$.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+276a6832e3c2a4eb40fa648cfdd9ff88640dd7c2	@PHENOTYPICFEATURE$ with a @DISEASE$ can be fortuitous given these two affections' frequency.	false
+06fa375eb51fb195eefd763fe1c0b77c754345c9	@PHENOTYPICFEATURE$ in infants and toddlers with @DISEASE$.	false
+e1bbc0968fac3ade4ab6254a725f977189a1f0ae	@PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+474a4cd602628496952017d4b682303593da9cfd	We report the case of a female patient affected by @DISEASE$, presenting with a @PHENOTYPICFEATURE$.	false
+13e87e4afeda9d848fcf058451a983f76966f574	The Roberts-SC phocomelia syndrome (@DISEASE$) is a rare, usually lethal condition involving @PHENOTYPICFEATURE$ and occasional hydrocephalus.	false
+16b5d8578c1babd9fa497871f43a221c0d2eda86	The @DISEASE$ (pseudothalidomide syndrome) is a rare, usually lethal condition involving @PHENOTYPICFEATURE$ and occasional hydrocephalus.	false
+7d3cfcf748cb9b56a5a5961b81121ef036072b88	We now report on a patient with @DISEASE$ and @PHENOTYPICFEATURE$, evidenced by hypocalcemia, hyperphosphatemia, and a low level of parathyroid hormone, in whom the parathyroid glands could not be located after death.	false
+c29ed0b9b617cf5a6a16cc7bfcbdebaf5d78f808	The findings typical of the @DISEASE$ included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were @PHENOTYPICFEATURE$, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years.	false
+1bd91dd5c97ec2c65ed60eb7a990376ead02ad29	In contrast to the majority of patients with @DISEASE$ he has only slight @PHENOTYPICFEATURE$.	false
+b4a40dd89c2d1ff287eeffd7722658997d34b038	The family members show features common to @DISEASE$ such as mental retardation, multiple facial dysmorphism, foot/@PHENOTYPICFEATURE$, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD).	false
+71756a7b53fcab8f721f43b2fbf881f27f12f471	The disease can be idiopathic (simple pulmonary eosinophilia, acute and @DISEASE$, hypereosinophilic syndrome), secondary (to drugs, parasites, fungal and mycobacterial infection, irradiation, toxic products) or associated with diffuse lung diseases (connective tissue diseases and some @PHENOTYPICFEATURE$).	false
+f601a64453c4022d543a82f6de22e754ae4187d2	When workups for them are negative, rarer causes must be suspected: specific organ diseases (@DISEASE$, bullous pemphigoid, etc.), solid @PHENOTYPICFEATURE$, clonal blood disorders, or vasculitis.	false
+c2dd4fd6d40552ce20b30c06750acf8b8bb18bb8	We describe the ophthalmologic findings in two cases of @DISEASE$, a rare syndrome characterized by @PHENOTYPICFEATURE$, multiple malformations of the vertebrae and ribs, and significant mental retardation.	false
+10e418825ed28577a6d54bd70017fc0662d47fa2	@DISEASE$ is a challenging indication for liver transplantation because of associated multiple organ failure, profound @PHENOTYPICFEATURE$ and coagulopathy.	false
+e1d8ff3d99b440db8468728013336ecf81a956ab	@DISEASE$ is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and @PHENOTYPICFEATURE$, and urinary excretion of polyols.	false
+4d78992896b0176dc986a82d34e7388a5e49e44f	The differential diagnosis for this disorder should include other disorders of excessive daytime sleepiness with a proclivity toward onset in adolescence, such as delayed sleep phase syndrome, @PHENOTYPICFEATURE$, and insufficient sleep time; substance use; and less commonly neurologic disorders such as @DISEASE$, Prader-Willi syndrome, and others.	false
+41e55d3564094908164fee38d7cf9ee292caa46e	We need to decipher the causes of excessive sleepiness: sleep deprivation, toxic and iatrogenic, psychiatric disorders (including depression), non-psychiatric medical problems (obesity, neurological pathologies...), sleep disorders (as for example the sleep apnea syndrome), and finally the central hypersomnias namely @PHENOTYPICFEATURE$ type 1 and 2, idiopathic hypersomnia, and @DISEASE$.	false
+914c51f75245601e2357c3c5b62d7756411a6056	We need to decipher the causes of excessive sleepiness: sleep deprivation, toxic and iatrogenic, psychiatric disorders (including depression), non-psychiatric medical problems (@PHENOTYPICFEATURE$, neurological pathologies...), sleep disorders (as for example the sleep apnea syndrome), and finally the central hypersomnias namely narcolepsy type 1 and 2, idiopathic hypersomnia, and @DISEASE$.	false
+5c5287a97f86833d47f030e4bbde32bfbc33a938	Seventy one patients with hypersomniac paroxysms--Pickwickian and @DISEASE$, were studied, the incidence of combination of hypersomnia and @PHENOTYPICFEATURE$--followed up.	false
+f2a108ea886464563c4c5442c36f8f8db532137a	Regarding the subtypes of encephalitis/@PHENOTYPICFEATURE$, @DISEASE$ and hemorrhagic shock and encephalopathy syndrome were frequent.	false
+ef23387ccabbb30044dd319b0e8500b9b47881b3	Regarding the subtypes of encephalitis/encephalopathy, @DISEASE$ and hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome were frequent.	false
+7cf77779db1fd0a51ec937c0480817a9b4db4437	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is a childhood @PHENOTYPICFEATURE$ following severe febrile seizures.	false
+59eab12cf52be786351e5e55acaf00ccbc32d1a2	@DISEASE$ (AESD) is a childhood @PHENOTYPICFEATURE$ following severe febrile seizures.	false
+369749c23246d2a9d8faf9f9e121745bbe643a03	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) at onset manifests an early @PHENOTYPICFEATURE$ (ES) usually lasting more than 30 min.	false
+685113750060cbb9ae1dd3ee33051f3a20e7024a	@DISEASE$ (AESD) at onset manifests an early @PHENOTYPICFEATURE$ (ES) usually lasting more than 30 min.	false
+533bda6338616da720ed7c98fe419b5fb5faf67c	@DISEASE$ (AESD) is a childhood @PHENOTYPICFEATURE$ following severe febrile seizures, leaving neurologic sequelae in many patients.	false
+a4e0b11ec2c7d2ef471f37c0b334a0bcf0b0c9e8	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is a childhood @PHENOTYPICFEATURE$ following severe febrile seizures, leaving neurologic sequelae in many patients.	false
+d58b9c9bbd0a02646cf2b4dd670007681fada679	Serial magnetic resonance imaging studies revealed that @DISEASE$ (AESD) evolved on 3days after the @PHENOTYPICFEATURE$.	false
+734ed33aa2681f5d409adcc759d7f5f201f497b0	Serial magnetic resonance imaging studies revealed that acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) evolved on 3days after the @PHENOTYPICFEATURE$.	false
+a924876a4ba3e79287324fd47de8a52f1954ddd3	Human herpesvirus-6B (HHV-6B) encephalitis can clinically manifest as hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES), @DISEASE$ (AESD), and acute necrotizing encephalopathy (ANE).	false
+973335d1e2d6c2aa473076dec12039c74a5eee75	Human herpesvirus-6B (HHV-6B) encephalitis can clinically manifest as hemorrhagic shock and @PHENOTYPICFEATURE$ syndrome (HSES), acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$), and acute necrotizing encephalopathy (ANE).	false
+2a23edb8acc837ff14b314176d28850ff3b6dd87	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) presents a distinct clinical course of biphasic @PHENOTYPICFEATURE$ and impaired consciousness.	false
+966abcbd48fe5a626057edc262007e4b6d5e4a6c	@DISEASE$ (AESD) presents a distinct clinical course of biphasic @PHENOTYPICFEATURE$ and impaired consciousness.	false
+34fa306fee3d87e34dca09d42e6c88d2e7a8893e	@DISEASE$ (AESD) is usually accompanied by viral infection in children and is characterized by biphasic @PHENOTYPICFEATURE$ and impaired consciousness.	false
+16eaf25a102f3967d814077acad2b0c52a88e0f9	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is usually accompanied by viral infection in children and is characterized by biphasic @PHENOTYPICFEATURE$ and impaired consciousness.	false
+a1067848c8c5927b088a91e5ae756b1e4fc074ee	Acute encephalopathy with biphasic seizures and late reduced diffusion (@DISEASE$) is characterized by biphasic @PHENOTYPICFEATURE$ and impaired consciousness.	false
+9c89df76d6237b9504c6bce86ab0f86bc1ce9f8c	@DISEASE$ (AESD) is characterized by biphasic @PHENOTYPICFEATURE$ and impaired consciousness.	false
+8be67249f29d807facaa2d37b566b77a41a26551	Clustered subclinical @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+67fd73125695cdaa3563c1bea2e588097d927402	Seven patients with recurrent @DISEASE$ and concurrent lower extremity @PHENOTYPICFEATURE$ and pain were studied with contrast venography.	false
+d5cbb87bf8f404b9518c7901f4190c3408c90faf	The clinical characteristic differences between thrombosis-related @PHENOTYPICFEATURE$ and lymphedema following radiotherapy or chemoradiotherapy for patients with @DISEASE$.	false
+a5417349fdb26ad9db61dee6793935cf2f3c959e	To evaluate quantitatively local edema, electrical tissue impedance in the leg was measured with a multifrequency impedance meter in 10 patients without @PHENOTYPICFEATURE$ and in 10 other patients with lymphedema after hysterectomy for uterine @DISEASE$ (Groups 1 and 2, respectively).	false
+bd73511d63b9fbad751f23909003ea018c881ecc	To evaluate quantitatively local @PHENOTYPICFEATURE$, electrical tissue impedance in the leg was measured with a multifrequency impedance meter in 10 patients without edema and in 10 other patients with lymphedema after hysterectomy for uterine @DISEASE$ (Groups 1 and 2, respectively).	false
+6f65ecb8575acb4552a05cf71ce63db48e4ef8c6	Thrombosis-related @PHENOTYPICFEATURE$ and lymphedema are two principal types of lower extremity edema results from radiotherapy alone or chemoradiotherapy for patients with @DISEASE$.	false
+cbf67dad9a52fd789eefbb989475840144c7048f	Others had locally advanced prostate cancer (n=1), locally advanced @DISEASE$ (n=3), ovarian cancer (n=1) and genitourinary tuberculosis with small capacity bladder along with a large @PHENOTYPICFEATURE$ (n=1).	false
+c52bb9ebc30334e446a408d8ec1ff4f7f1d07f0e	Lower extremity @PHENOTYPICFEATURE$ due to deep vein thrombosis in patients with recurrent @DISEASE$.	false
+a58e96f2a5d9f1ae0a4860716f5a009b0c21d62f	Pitfalls leading to staging errors included difficulties in differentiating cancer foci from surrounding tissue @PHENOTYPICFEATURE$ and excluding vaginal invasion in the presence of large @DISEASE$.	false
+c0a651e99f5a6bdb5109ea23af3c5d3e736ba9cc	This study investigated the clinical manifestations of lower extremity @PHENOTYPICFEATURE$ (LEE) in locally advanced @DISEASE$ patients treated with two different strategies.	false
+5b2a36a10e4163d04ee3622adf1795a835d538ad	Nanoparticles were tested for anticancer (HeLa @DISEASE$ cells), antibacterial (Staphylococcus aureus, Escherichia coli, and Pseudomonas aeruginosa), urease inhibition (jack-bean urease), anti-inflammatory (carrageenan-induced paw @PHENOTYPICFEATURE$), and antinociceptive (abdominal constriction response) activities.	false
+fbc49e49579990105cf5e145e9b213a1a22d846b	@PHENOTYPICFEATURE$ was also investigated, as atopic eczema has been negatively associated with warts, but non-atopic eczema may be associated with compromised host defences, as observed in patients with HIV, suggesting increased susceptibility to HPV infection and @DISEASE$.	false
+82299452b8ca714871abd53fad052da43dd30afc	A 54-year-old female patient with @DISEASE$ who developed middle ear metastasis along with acute @PHENOTYPICFEATURE$ in the contra ear.	false
+d4b496590c2ddd9f9cb3674389d1ac0aa674024b	Children with @DISEASE$ and palate show symptoms similar to a naming-memory deficit model of developmental @PHENOTYPICFEATURE$.	false
+9b795e50fd3ab988f4dcc3faff1408d5ac0adf79	Nine (4%) of the 247 patients had @DISEASE$ @PHENOTYPICFEATURE$ without intra-articular pathology.	false
+30128922757da28e44757a6a37a1f835cc7ec8b4	We confirmed that @DISEASE$ @PHENOTYPICFEATURE$ is associated with osteoarthritis, but is also associated with meniscal tears, meniscal extrusion, and chondromalacia.	false
+1107f57af55f502088107c04bf4247804e6c1324	The mean age of those with MCL @PHENOTYPICFEATURE$ was 49.7 years compared with 34.9 years without @DISEASE$ edema ( p <0.001).	false
+e7a483cf27cb94179593738f4759f0d5b37b1fce	The mean age of those with @DISEASE$ @PHENOTYPICFEATURE$ was 49.7 years compared with 34.9 years without MCL edema ( p <0.001).	false
+98b4563bf05ff2197dfacb2fbab47bd068f15c10	In addition, MCL @PHENOTYPICFEATURE$ can be seen in patients without intra-articular pathology, recent trauma or @DISEASE$ abnormality on physical examination.	false
+54f734b2d30135198a73567eababe45d77ce3883	Atraumatic @DISEASE$ @PHENOTYPICFEATURE$ may serve as a marker for medial knee compartment osteoarthritis or for a degenerative medial meniscal tear and should not be confused with traumatically induced MCL injuries, although this distinction can often be difficult to make based on MRI findings alone.	false
+209d1b5b00777f53c2b4084e3d4cb7c0c29d333d	A rare endoscopic appearance of primary gastrointestinal @DISEASE$ resembling @PHENOTYPICFEATURE$.	false
+9f2516a61225d03b35c721be8b2fb5a6a1c94bb7	Humans with a deficiency of FIG4 (known as @DISEASE$ or CMT4J) present with clinical and pathophysiological phenotypes indicative of spinal @PHENOTYPICFEATURE$ and segmental demyelination.	false
+20124601118dce09d683b5d28404cf2501ae1e7a	Mutations of FIG4 result in the inherited disorders @DISEASE$, Yunis-Var?n syndrome, and polymicrogyria with @PHENOTYPICFEATURE$.	false
+65a46e1ffadcb825422934740e89ff015ac094ec	This study extends the spectrum of phenotypes associated with FIG4 mutations to include cortical malformation associated with @PHENOTYPICFEATURE$ and psychiatric manifestations, in addition to the previously described @DISEASE$ and Yunis-Var?n syndrome.	false
+71955bdf5138c8d2b0f5c9ddebba6fa877ba686b	EFD-T was identified in: @DISEASE$, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, @PHENOTYPICFEATURE$-Pyle type, Melnick-Needles osteodysplasty, and otopalatodigital syndrome type I.	false
+278ff3bfcfc647f55d8a0e558dd1e5f43a1e1f10	These defects are @PHENOTYPICFEATURE$, craniometaphyseal dysplasia, @DISEASE$, and osteodysplasty (osteodysplasty of Melnick and Needles).	false
+99973137ed8c25f16cd2efa6c944e04a92c85a33	Sibs with mental retardation, supraorbital sclerosis, and @PHENOTYPICFEATURE$: @DISEASE$, craniometaphyseal dysplasia, or a new syndrome?	false
+fdbac9fa5dd7be2baea493b48247ef4a1b4dc006	DR can be complicated by scar tissue formation, @PHENOTYPICFEATURE$, and tractional @DISEASE$.	false
+90e5e8ff6d10afc5b8fcc861c0bdbc32a1c8724f	There are no identifiable systemic or @PHENOTYPICFEATURE$, high myopia, optically empty vitreous, lattice degeneration, areas of white-without-pressure, retinal breaks, or @DISEASE$; thus, previously described vitreoretinopathies can be excluded from diagnostic consideration.	false
+7e5cd9ba49139abaf39ddb89f0b10576310a8625	A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and @DISEASE$, and severe @PHENOTYPICFEATURE$: bilateral pyramidal involvement, fasciculation in all limbs and gait ataxia.	false
+ec78cfd35da7f29c889536e9e6f27692e6dfbe87	In hyperhomocysteinemias (HHcys), clinical manifestations are mental retardation and seizures (type I only), ectopia lentis, secondary glaucoma, optic atrophy, @DISEASE$, @PHENOTYPICFEATURE$, osteoporosis, vascular changes, neurological dysfunction and psychiatric symptoms.	false
+3c21d03bc1a977814d784fa8babd51f0d70c105d	Five cases were identified, including an examination under anesthesia, @PHENOTYPICFEATURE$, macular hole, @DISEASE$, and non-clearing vitreous hemorrhage in the setting of proliferative diabetic retinopathy.	false
+69ca861c89ede6ca60eeaa2e3fb319db28ec7a08	To evaluate ocular @PHENOTYPICFEATURE$ after scleral buckling surgery (SBS) for @DISEASE$.	false
+5ad34ce36db63773fbb51bf88113f5b463400b6c	The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by @PHENOTYPICFEATURE$, joint pain, congenital myopia and @DISEASE$.	false
+07cbfb284e8f5fe292fcab763599cebdc4ac2a55	Optical coherence tomography has found that patients with DR often have diffuse retinal thickening, @PHENOTYPICFEATURE$, posterior hyaloid traction, and tractional @DISEASE$.	false
+442b6ed5e4dbec022e8916c5c35fe0a771332277	@DISEASE$ (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing @PHENOTYPICFEATURE$; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.	false
+9921215c02a6545559c51be40dcd16e666a2e7f7	Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary @PHENOTYPICFEATURE$-tumor syndrome with an increased risk of breast, thyroid, and @DISEASE$, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and Proteus-like syndromes.	false
+809e563a0e4866ef273fa006def81a35e718f752	Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two @PHENOTYPICFEATURE$-tumor syndromes with an increased risk of breast, thyroid and @DISEASE$.	false
+421b712a95bab609a9db2005d261f22d0eaee5cc	Low circulating adiponectin concentrations (hypoadiponectinemia; <4??g/mL) are associated with a variety of diseases, including dysmetabolism (type 2 diabetes, insulin resistance, hypertension, dyslipidemia, metabolic syndrome, hyperuricemia), atherosclerosis (coronary artery disease, stroke, peripheral artery disease), @PHENOTYPICFEATURE$, non-alcoholic fatty liver disease, gastritis and gastro-esophageal reflux disease, inflammatory bowel diseases, pancreatitis, osteoporosis, and cancer (@DISEASE$, postmenopausal breast cancer, leukemia, colon cancer, gastric cancer, prostate cancer).	false
+a02c6ba2710cee84bb49f1296cf2f33273696833	The immune system reaction in @DISEASE$ may have a role in @PHENOTYPICFEATURE$ behavior and spontaneous regression.	false
+1225aa8178a83c2cb603ee6bf2919024afec5b03	Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the @DISEASE$ (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the St?ve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, @PHENOTYPICFEATURE$, and early death.	false
+56edcca4d8be809bf6c1f5ad2a75d192c747e6c3	Schwartz-Jampel syndrome (@DISEASE$) is a disorder characterized by myotonia, @PHENOTYPICFEATURE$, skeletal abnormalities, facial dysmorphism and growth retardation.	false
+35ea360c4ee646805e094ed28f03e726dd56905a	@DISEASE$ (SJS) is a disorder characterized by myotonia, @PHENOTYPICFEATURE$, skeletal abnormalities, facial dysmorphism and growth retardation.	false
+59733eb5da12d693a99fa7ad053b1565d15f955e	The @DISEASE$ (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+6d5a3f847e0b018af15769e33b697c2ed0752bd3	The Schwartz-Jampel syndrome (@DISEASE$) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, @PHENOTYPICFEATURE$, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity.	false
+ea868254b08712e3b345009a6dd0dd91be007aa1	It should be differentiated from conditions such as @PHENOTYPICFEATURE$ epilepsy, psychogenic movement disorder, Isaac syndrome, @DISEASE$, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine.	false
+2bde3be1f6ebc7cc9fca221e7f8725aa7163c15d	Immune system reaction in @DISEASE$ may have a role in @PHENOTYPICFEATURE$ behavior and spontaneous regression.	false
+89861b89384d8953be73b7bfaf61f7134c52ed0a	@DISEASE$ is a rare autosomal recessive disorder with @PHENOTYPICFEATURE$, generalized myotonia, skeletal anomalies, and facial dysmorphism.	false
+5fdefa24c48d7d13e118ce14cf61aeac96bc79c8	@DISEASE$ is a rare inherited autosomal recessive disorder characterized by generalized myotonia, @PHENOTYPICFEATURE$, skeletal abnormalities and facial dysmorphism.	false
+28df3b6ce5dea9ccbee56738ea49d5a4b492916c	The link between both diseases may be immunosuppression induced by Hodgkin's disease, which could favor infection inducing @DISEASE$ or secretion by @PHENOTYPICFEATURE$ cells granulysin, a mediator responsible for damage to keratinocytes.	false
+3707bc853188c9ffbc025db98c631ae72b036c66	Prenatal ultrasonic diagnosis of @DISEASE$ is possible, at least for the form with neonatal onset of myotonia and @PHENOTYPICFEATURE$.	false
+8e38d991883ffb9e46676ff8a24923f424cb73f6	Lennox-Gastaut syndrome a combination of various generalized seizures including atypical absences and tonic seizures with generalized slow spike waves and @PHENOTYPICFEATURE$, is often difficult to distinguish from a subgroup of myoclonic-astatic epilepsy, other @DISEASE$ syndromes, and various symptomatic generalized epilepsies.	false
+0addb0bbea60243b2b30d35586bfec442cd36050	Mutation of a voltage-gated K+-channel gene can cause partial seizures associated with periodic @PHENOTYPICFEATURE$ type 1 and some forms of juvenile myoclonic epilepsy and idiopathic @DISEASE$ can result from mutations of a Ca2+-channel.	false
+1eca2bc690b1e4c38bac6871d96e63d7822a4a7c	Malignant epileptic encephalopathies in children comprise a series of age-related @DISEASE$ syndromes: neonatal myoclonic @PHENOTYPICFEATURE$ and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic encephalopathies in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+4b8722483be0713901668004cd6c60f59ce2a325	Malignant epileptic encephalopathies in children comprise a series of age-related @DISEASE$ syndromes: neonatal myoclonic encephalopathy and early epileptic encephalopathy in the neonatal period, migrating focal seizures in early infancy, infantile spasms and West syndrome, severe myoclonic epilepsy and non-progressive myoclonic @PHENOTYPICFEATURE$ in infancy, and Lennox-Gastaut syndrome, myoclonic astatic epilepsy, continuous spike waves in slow sleep and Rasmussen disease in childhood.	false
+2b7e3f01d73856b8cf218f42577aa5dec5e6ef35	Here, we present an unusual case of combined @DISEASE$ of the thymus in a 44-year-old male who had suffered from @PHENOTYPICFEATURE$, chest pain, chest tightness and shortness of breath.	false
+1c6e257c2bc4b1cdc7e7357d6ec841a3985590b8	@DISEASE$ and esophageal submucosal @PHENOTYPICFEATURE$ were 2nd and 3rd common diseases (2.0% and 0.6%, respectively).	false
+27c44657e86f0bc83465ee1457d70abfe27759e5	@DISEASE$ and @PHENOTYPICFEATURE$ can be found as well.	false
+06ddbb7f5053a207f12e5b227e5db4e3fd47e49c	Other applications that have either been considered or are undergoing clinical trial are based on the ubiquitous tissue-building properties of IGF-I and include chronic liver disease, cystic fibrosis, wound healing, AIDS muscle wasting, burns, osteoporosis, Crohn's disease, anorexia nervosa, Werner syndrome, @DISEASE$, Alzheimer's disease, @PHENOTYPICFEATURE$, amyotrophic lateral sclerosis, hearing loss prevention, spinal cord injury, cardiovascular protection, and prevention of retinopathy of prematurity.	false
+b1eafe383c61fecc94e944b9815ee091c13b8a92	The most frequent @PHENOTYPICFEATURE$ was @DISEASE$.	false
+3b9e895d9a7fd6b93fed2735537cc9387d972b00	In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, @PHENOTYPICFEATURE$, hypotonia, @DISEASE$, and ataxia.	false
+45f24c50d2b2ef348f0be07afaf212a0647fa1da	A neurological examination revealed @DISEASE$ in all extremities; he also had a @PHENOTYPICFEATURE$, pharyngitis, and cervical adenopathy.	false
+f9b2789b27b8896f3a2dfb830738b8b71500062b	On admission, she showed exophthalmus, concentric narrowing of the visual field, @PHENOTYPICFEATURE$ and @DISEASE$ in jaw and four extremities.	false
+5544b167fdb804772e6e73e9a58f9c514b03af25	The main clinical features in all patients were headache, @PHENOTYPICFEATURE$, nuchal rigidity, hand tremor, and @DISEASE$.	false
+f0733001c14056c1d1543d558eeff666f1cee2d7	The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with @DISEASE$, short stature, and @PHENOTYPICFEATURE$.	false
+e8b81803588d1546ed75eb2987a36bcb81e545a4	The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with @DISEASE$, @PHENOTYPICFEATURE$, and optic atrophy.	false
+1d5a64b47d4528e7f5a29e5f867628c4c4b664db	Clinical manifestations included microcephaly, mental retardation, spasticity with @DISEASE$, cerebellar dysfunction, @PHENOTYPICFEATURE$, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.	false
+b3e854a21b17d1b1317748249f26179b1931daec	Clinical manifestations included microcephaly, mental retardation, spasticity with @DISEASE$, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and @PHENOTYPICFEATURE$.	false
+2dcf619801f3ba85e1fa52896dc919f7fe122a29	Mutations in JARID1C are associated with X-linked mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8eb1bf2a0c3a74ce2d3acf5d41c0b1918973ed14	Main clinical features were, complete failure of motor and mental development, sudden hypotonia and @DISEASE$, @PHENOTYPICFEATURE$ and optic atrophy.	false
+3389fc26aadf12097764e7b469b2bb156c58d0bb	Main clinical features were, complete failure of motor and mental development, sudden hypotonia and @DISEASE$, blindness and @PHENOTYPICFEATURE$.	false
+fd58110aaecf5db62d91a5128db3de7eeb702d8c	Neurological examination was negative except bilateral @PHENOTYPICFEATURE$ and generalized @DISEASE$.	false
+c5723502f4568c7bd152d15512c6e2a66c7525a9	Mycobacterium @DISEASE$ infection complicated by Eales disease with @PHENOTYPICFEATURE$.	false
+32e1da23252c4c68f198ec8d343bba9e855d296b	@PHENOTYPICFEATURE$ in persons with @DISEASE$.	false
+db051bfa94898e96820b1583a5e2c4dda0c2ef17	A diagnosis of a mycobacterium @DISEASE$ @PHENOTYPICFEATURE$ was made and antimycobacterial therapy was started.	false
+4c3d5466c1787392c65805b4a346426435bc579c	@PHENOTYPICFEATURE$ (PN) is a serious condition affecting the nerves that is commonly seen in patients with @DISEASE$ (TB).	false
+fdbf238041ff0b192e63de42d55f61b4e655e6e9	The cause of @PHENOTYPICFEATURE$ associated with @DISEASE$ is controversial.	false
+7307364d90786e092657dacae98e9b18123a08e6	Mycobacterium marinum causes a systemic @DISEASE$-like disease in fish and @PHENOTYPICFEATURE$ in humans that can spread to deeper structures, resulting in tenosynovitis, arthritis, and osteomyelitis.	false
+fdbf238041ff0b192e63de42d55f61b4e655e6e9	The cause of @PHENOTYPICFEATURE$ associated with @DISEASE$ is controversial.	false
+670eedb8ab9aedba9f5bdd2e28b44a1697ecdce1	@DISEASE$-related vasculitis causing @PHENOTYPICFEATURE$ is extremely rare and our case is unique in manifesting this presentation.	false
+976f0bb2054ab6b9ca55d731f3f79cd97fa3c139	@PHENOTYPICFEATURE$ in @DISEASE$ patients treated with isoniazid.	false
+27dc8bbf895dc0a3576511647e73fee1b18754fc	The thesis for his doctorate at Zurich University in 1920 was on, Relations between Nodular @PHENOTYPICFEATURE$ and @DISEASE$'.	false
+d4b8ebc8d1b6f3072870be5a84f6b9385a10e590	There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome and @DISEASE$ (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively.	false
+9a31a458349c6c18410aead6df0c1a7624d0d5f6	There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis-ichthyosis-@PHENOTYPICFEATURE$ (KID) syndrome and hidrotic ectodermal dysplasia (@DISEASE$), which are caused by GJB2 and GJB6 mutations, respectively.	false
+7f739a22fb17a6f571dd4935c01e60aea2e7c09a	Here, we describe a patient suffering from a @DISEASE$-like phenotype of thin hair, @PHENOTYPICFEATURE$, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense mutation in GJB2.	false
+b764bc88abcec05a334a174eda054372498f798d	This is the first reported finding of craniofacial, digital, and @PHENOTYPICFEATURE$ associated with ACC, likely representing a new variant of the autosomal dominant @DISEASE$ subtype.	false
+9be3f15f6b368105eb586d24574343a805acc75c	A phenotype resembling the @DISEASE$ with @PHENOTYPICFEATURE$ is associated with a novel missense GJB2 mutation.	false
+62461a9512fa94a0866ad678bc18f176e86d1dd5	This syndrome is characterized by a tetrad of chondrodystrophy, post axial polydactyly, and @DISEASE$, mostly involving teeth and nails and a high frequency of congenital @PHENOTYPICFEATURE$, most frequently a common atrium.	false
+9327fc991ecf88e20993b3762d95640b83076973	The loss-of-function V37E mutant associated with @DISEASE$ or keratitis-ichthyosis-@PHENOTYPICFEATURE$ syndrome was retained in the endoplasmic reticulum and significantly induced apoptosis.	false
+1dff5c684604520472e93c2799ff113597a48353	This study demonstrates that Dll3(neo) and Dll3(pu) are functionally equivalent alleles with respect to the @PHENOTYPICFEATURE$, and we suggest that the three human DLL3 mutations associated with @DISEASE$ are also functionally equivalent to the Dll3(neo) null allele.	false
+2412aae8357bcba394360af9fb36e5452fd60924	Hereditary @DISEASE$ with malignant cerebral @PHENOTYPICFEATURE$.	false
+6139b77c9c5a1dbb219979e63633895883556a24	@DISEASE$ (SCD) is a rare @PHENOTYPICFEATURE$ with clinical and radiological manifestations, consisting of short neck and trunk, barrel-shaped chest, protuberant abdomen, scoliosis and abnormalities of vertebral segmentation and of the ribs.	false
+527a2b3564e93f2002a5c3b6d314a5ab22f656c4	However, unlike achondrogenesis there was an associated severe @DISEASE$ and major non-skeletal anomalies, particularly a cerebellar @PHENOTYPICFEATURE$, cardiovascular and urogenital malformations.	false
+0cb14e5dd87dfd14a8591bba1b870b6b229b7e2a	Although hemangiomas are the most common @PHENOTYPICFEATURE$ of infancy, rapidly involuting congenital hemangioma has not been described in @DISEASE$.	false
+f84fd2147a02ad42a326e203fa67d1d01ce27418	A LFNG mutation is reported in a case of @DISEASE$ (SCD), a @PHENOTYPICFEATURE$ with severe malformations of vertebra and rib.	false
+8d6f8f9754eb9402a9fea392357fd3e380a4668d	Lefebvre et al in this journal reported that 2 patients with @DISEASE$ (SCD), a rare @PHENOTYPICFEATURE$ affecting spine and ribs also have TBX6 mutations: 1 carried the microdeletion and a rare missense variant, and another 2 rare missense variants.	false
+1eaf852c124b779c47c1c68090233c542feac19d	The differential diagnoses include anencephaly with spinal retroflexion, Klippel-Fiel syndrome, nuchal @PHENOTYPICFEATURE$ such as teratoma, goiter, and lymphangioma and @DISEASE$.	false
+353a7542cda043c8b412de6d6069afcd17224372	The frequent occurrence of @PHENOTYPICFEATURE$ such as myoclonus, parkinsonism and dystonia, strongly suggests an involvement of the dopaminergic system in @DISEASE$ (sCJD), but this issue has not been specifically addressed yet.	false
+d0596921d249e6274ae18020dc95e38ee3e9f24a	Those observations as well as the present report indicate an increased frequency of @PHENOTYPICFEATURE$ (particularly of the nervous system) in patients with @DISEASE$.	false
+29ad9d6b9ab102055b1ead655f3a353646765b3f	@DISEASE$ is a rare condition which can cause soft tissue @PHENOTYPICFEATURE$.	false
+71b6138ee0c44633c8e92e04abea2af8bac7940f	@DISEASE$ is a rare bone dysplasia and important as a differential diagnosis for @PHENOTYPICFEATURE$ changes in the limb or in painful joints.	false
+c5522433c910003c8104d9f51bb19ae58fc9cdea	@DISEASE$ often is disabling because of progressive @PHENOTYPICFEATURE$ of the joint and soft tissue involved.	false
+86eb54fae99d9abb4da99f4480abee06e5dc5e75	The hypothesis leading to the chosen drug schedule was that impaired rbc deformability (@DISEASE$) found in cancer patients may produce stasis of flow in @PHENOTYPICFEATURE$ capillary beds and decrease drug delivery to cancer cells.	false
+3ef020ff6c63a46ee8035eff088fc2bdbd270002	27,690), a syndrome involving acromegaly, cutis verticis gyrata and corneal leukoma (No. 10,210), a syndrome with congenital cataract, microphthalmia and nystagmus (No. 21,255), and a presumably new dominant hereditary @PHENOTYPICFEATURE$-@DISEASE$ syndrome.	false
+00c434402ee4a6babc442a9de17145968fa79ac8	27,690), a syndrome involving acromegaly, cutis verticis gyrata and corneal leukoma (No. 10,210), a syndrome with congenital cataract, @PHENOTYPICFEATURE$ and nystagmus (No. 21,255), and a presumably new dominant hereditary cataract-@DISEASE$ syndrome.	false
+b9a443801a9767dcaa833d0f5c1d102c44dd5487	A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO s?ndrome (progressive encephalopathy with oedema, hipsarrhythmia and @PHENOTYPICFEATURE$), Joubert syndrome, @DISEASE$, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia.	false
+1b9993b19a3c4965229f5a064ccaa28074152e9e	All four had the @DISEASE$, lymphadenopathy and @PHENOTYPICFEATURE$, and one also had SHORT syndrome.	false
+3154ee9c7e76c341f1c4950bd944c9d0412cab65	Thirteen children had chronic granulomatous disease (CGD), 4 had severe combined immunodeficiency (SCID), 4 had @PHENOTYPICFEATURE$, 2 had Ataxia telangiectasia, and one each had DiGeorge syndrome, Wiskott Aldrich syndrome, @DISEASE$ and leukocyte adhesion defect.	false
+f064a7b586d4e0570e2604e39bb5f0bcfd9c2f59	At the age < 35 years distinct structural cardiac disorders such as hypertrophic cardiomyopathy, inflammatory disorders, coronary artery anomalies, as well as conditions without structural @PHENOTYPICFEATURE$ such as primary electrical diseases (Brugada's syndrome, long QT, @DISEASE$ and catcholaminergic polymorphic ventricular tachycardia) are important causes of sudden death.	false
+8342ba50bad918138fb4f9fcdcd4316781a8c622	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, @DISEASE$, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+8c2b9b3ee5dcd953379e6a98113d6f911d6fba0f	This review highlights current clinical and molecular findings of two highly relevant structural @PHENOTYPICFEATURE$ evident at autopsy, namely hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, as well as the cardiac channelopathies of long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and @DISEASE$, which may account for one third of autopsy-negative sudden unexplained deaths (SUDs) during childhood and adolescence.	false
+0b0921988eb2da74bdeeb518127a3eb1cc56f4c4	Mutations in either KCNQ1 or KCNE1 are responsible for at least four channelopathies that lead to cardiac dysfunction and one that leads to @PHENOTYPICFEATURE$: the Romano-Ward syndrome, the @DISEASE$, atrial fibrillation, and the Jervell and Lange-Nielsen syndrome (cardioauditory syndrome).	false
+025071de2342019e8f94501a0dd6be7a0ab89bff	In this review we discuss how these markers have demonstrated to be effective to predict malignant arrhythmias in medical conditions such as long and @DISEASE$, Brugada syndrome, early repolarization syndrome, acute myocardial ischemia, @PHENOTYPICFEATURE$, hypertension, diabetes mellitus, obesity and highly trained athletes.	false
+97bfaa4d18351474d8ce66d4e4341007cf2b5757	In this review we discuss how these markers have demonstrated to be effective to predict malignant arrhythmias in medical conditions such as long and @DISEASE$, Brugada syndrome, early repolarization syndrome, acute myocardial ischemia, heart failure, hypertension, diabetes mellitus, @PHENOTYPICFEATURE$ and highly trained athletes.	false
+c262148fbf48be158bb8e3fdbd51d3cd7db07943	The safety and efficacy of trabectedin for the treatment of @DISEASE$ or @PHENOTYPICFEATURE$.	false
+8fa6d554d113c9c6614086ec7e32690e55642fe7	This is also the case for other @PHENOTYPICFEATURE$ combining action myoclonus and epilepsy-as described in Ramsay Hunt syndrome (30), now better referred to as @DISEASE$ (40) (Fig. 14).	false
+a5e518d5059140423914440820689f99fbc46809	Difficult differential diagnosis of @DISEASE$ with spontaneous kinesogenic myoclonus and @PHENOTYPICFEATURE$.	false
+a6c45250c0bad087059487167b4bdd9095f21e21	In the light of our data, we propose that @DISEASE$ with dopamine dysfunction and dyskinetic symptoms shares certain pathophysiological mechanisms with classical @PHENOTYPICFEATURE$.	false
+953d18e2babd353b1db35eb4894c30c4996de2b2	The common co-morbid diseases at the onset of @PHENOTYPICFEATURE$ were hematological disorders (pancytopenia 8, anemia 2, anemia with @DISEASE$) and sepsis (n=8).	false
+158838f2009454f94747290dce9096c6378af5e0	Other features in individual cases include cleft palate, micrognathia, @PHENOTYPICFEATURE$, @DISEASE$ and sensorineural deafness.	false
+605a49e5f5b62a752eeeb01739266cfcaa248d99	Although in itself rare, cerebral @PHENOTYPICFEATURE$ @DISEASE$ frequently as a complication of non-neurologic diseases or interventions.	false
+2567aecb1b038556a5ce5c0df076a560008ee370	In the second case, @PHENOTYPICFEATURE$, pulsatile tinnitus and sensorineural hearing loss @DISEASE$.	false
+74549ff2949b66ce24a492b80839f95731c98c0e	This study investigated the hypothesis that this syndrome is present when infantile monocular @PHENOTYPICFEATURE$ @DISEASE$ in patients who are genetically predisposed to congenital strabismus.	false
+7fc24c5da08d1b138e6e7a3e885bfd5b42e7af33	The AECD can be programmed to automatically defibrillate when a life threatening @PHENOTYPICFEATURE$ @DISEASE$.	false
+270633d89c34fc529472b534d31b7c1d072c5de6	Osteomas @DISEASE$ throughout the temporal bone and, depending on their location, may cause tinnitus, hearing loss, @PHENOTYPICFEATURE$, and facial nerve paresis.	false
+409c6dee1888e9795ec62e24e96c0fe1648ea5a7	If oxygen requirements are increased by muscle exercise, @PHENOTYPICFEATURE$, other stresses or when respiratory hypoxaemia @DISEASE$, extreme haemodilution is rapidly responsible for an oxygen debt.	false
+45902d268aa8f7ce94d407ecff09a8719e2a5935	Glucosuria @DISEASE$ in diabetes mellitus, generalized proximal tubular dysfunction of Fanconi's syndrome, glucose-galactose malabsorption syndrome, and primary renal @PHENOTYPICFEATURE$.	false
+dacd93f41c7df738b9997f2b7998b7589e65ad9b	Patients present with @PHENOTYPICFEATURE$ or congestive heart failure, and sometimes sudden cardiac death @DISEASE$.	false
+74a3ad863a2c0cab70903a934a66290f9eeb872b	Hyperglycemia @DISEASE$ in a variety of conditions such as overt diabetes, gestational diabetes and mild @PHENOTYPICFEATURE$, all of which are generally defined based on the oral glucose tolerance test and glucose profiles.	false
+9607ff9efd581a325bec71d55b159178293686e4	About 5 million new cases of cataract @PHENOTYPICFEATURE$ @DISEASE$ each year.	false
+7d73d2ee141f9739ebf9aeb8ddb54eacb360abe4	These patients exhibit a very wide range of phenotypic features from that of classic @DISEASE$ to only mild learning disabilities with @PHENOTYPICFEATURE$.	false
+cfa296109ac81f18488186ce6eb58737b266f7c5	@DISEASE$ (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by @PHENOTYPICFEATURE$, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p.	false
+b8c98ba482442af4f1148cb10bf471ad5242a73e	@DISEASE$ (PKS) is characterized by multiple congenital anomalies including @PHENOTYPICFEATURE$, mental retardation, and the mosaic presence of a tissue-limited isochromosome 12p [i(12p)].	false
+239fff627e4f8f1fd0ab34374e0264c4d76e1cea	Unclassifiable pattern of @PHENOTYPICFEATURE$ in a patient with mosaic partial 12p tetrasomy without @DISEASE$.	false
+7614c181b10ab61576578b9f2972cf3ba356b146	@DISEASE$ (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin @PHENOTYPICFEATURE$ and multiple congenital malformations.	false
+2618aad9f5798dd6fa9c39b2194f5991f6875bae	@DISEASE$ is a rare disorder characterized by multiple congenital anomalies, coarse face, @PHENOTYPICFEATURE$, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only.	false
+9f3bccfe1454d508a06d5165e74b6d68dbe1a19f	We report neurological diseases with abnormal CSF HVA values such as @DISEASE$, perinatal asphyxia, @PHENOTYPICFEATURE$, mitochondrial disorders, and other genetic diseases.	false
+83e65adfeee8f5caa3bdae5aedecfd2115cd2a08	Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes @PHENOTYPICFEATURE$ and larval death in zebrafish models of @DISEASE$.	false
+6fb9ba19222008a0d26468c10027c7c55a531c6f	We report 24 children (14 girls) who presented with the typical neuroimaging findings of @DISEASE$ (PCH) to describe the clinical spectrum of type 2. Twenty-one presented with the classical form described by Barth; characteristic features (15/21) were breathing and/or sucking problems during neonatal period and early onset hyperkinetic @PHENOTYPICFEATURE$.	false
+7b991e755502665680368d2f071d3ea33e1795ce	Postoperative @PHENOTYPICFEATURE$ and neck hematomas were less common in @DISEASE$ patients (p less than 0.001) than in the other groups.	false
+ff8e3def53439d097e162138d88646f3ec19d370	[@DISEASE$ and hyporeninemic @PHENOTYPICFEATURE$].	false
+c0782cbcef4b39551accb4f5f3a92fd55098add8	Richner-Hanhart syndrome or @DISEASE$ is characterized by painful palmo-plantar keratoderma, keratitis with photophobia and progressive @PHENOTYPICFEATURE$.	false
+50228b61810c96dd2467857778d0d5783bffccb9	@DISEASE$ or oculocutaneous tyrosinemia is characterized by painful palmo-plantar keratoderma, keratitis with photophobia and progressive @PHENOTYPICFEATURE$.	false
+633f674b17867843a83c692bd837bd4bae4d4249	The case confirms FKTN mutations as a cause of LGMD2M without @PHENOTYPICFEATURE$ and expands the phenotypic spectrum for LGMD2M to include cardiomyopathy and @DISEASE$ in the mildest affected non-Japanese patient reported so far.	false
+9eb1638dac6c8227d07a09feea6e2d82267829c7	Biallelic NPR2 mutations cause @DISEASE$, type Maroteaux, which is bone dysplasia characterized by severe short stature and @PHENOTYPICFEATURE$.	false
+7fa8ab349ca31df3c3ff85607eac318c396c43a7	Biallelic NPR2 mutations cause @DISEASE$, type Maroteaux, which is bone dysplasia characterized by @PHENOTYPICFEATURE$ and short limbs.	false
+c9e834978e96cd1eb3172c705a919ed4cfd2e10a	Mutations in the gene NPR2 have been shown to cause @DISEASE$-type Maroteaux (AMDM), an autosomal recessive skeletal disproportionate @PHENOTYPICFEATURE$ disorder in humans.	false
+31fbb2d4b12c00d5ce4cebac002916ee6495eea8	Numerous studies indicate that initial precipitating injuries (IPI) such as @PHENOTYPICFEATURE$ during early childhood may play a pivotal role in the pathogenesis of temporal lobe epilepsy (TLE) and Ammon's horn sclerosis (@DISEASE$).	false
+deaf257c969fabac848dcc4dc0538f43de9e9bfe	Alpers-Huttenlocher disease (@DISEASE$) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and @PHENOTYPICFEATURE$, usually associated with signs and symptoms of liver dysfunction.	false
+a59084409af1447b77f44304728c90ae427c4631	@DISEASE$ (AHD) is a rare encephalopathy of infancy and childhood characterized by myoclonic seizures and @PHENOTYPICFEATURE$, usually associated with signs and symptoms of liver dysfunction.	false
+03e20e3b2112952b78f806544eed10b3397590e4	@DISEASE$ is a @PHENOTYPICFEATURE$ disorder with liver disease that usually presents in the first few years of life.	false
+5d796bab4b9479f0d2d21acd7791a48326628a93	Recently, we established a novel overgrowth syndrome (@DISEASE$, OMIM #616592) arising from a de novo @PHENOTYPICFEATURE$ in PDGFRB, that is, c.1751C>G p.(Pro584Arg).	false
+a79df1b80c100fa0e00c03d258f645cb5d9206e6	Continuous subcutaneous infusion of glucagon by portable pump in non @DISEASE$ @PHENOTYPICFEATURE$.	false
+69fa20fabc18df5a80a88344c79fbcf28639b2fb	Eight months after treatment, the rats known to have @DISEASE$ on the basis of marked @PHENOTYPICFEATURE$ and later confirmed by autopsy showed variable response to a glucose load.	false
+40e2704c6c13f0032d4f201a106088e4bb349c2e	Subcutaneous infusion of glucagon by portable pump appears to give very effective symptomatic relief from non @DISEASE$ @PHENOTYPICFEATURE$ when surgery, radiotherapy and chemotherapy are impossible or ineffective.	false
+4e4fee497f23ca07e25b5558bcc9294bbe963fab	Children with @DISEASE$ are at considerable risk for @PHENOTYPICFEATURE$.	false
+f47b56ab02d4c543e2ec987d13a7e98d96a2c43e	Most cats with @DISEASE$ cysts remain clinically normal for their lives, although some patients may show abdominal distension, vomiting, @PHENOTYPICFEATURE$ and jaundice.	false
+75de2b3e988eeddb4a5d1af31fb1b3f3db511dc0	Most cats with @DISEASE$ cysts remain clinically normal for their lives, although some patients may show abdominal distension, @PHENOTYPICFEATURE$, abdominal pain and jaundice.	false
+fc1c2d7488ec777ecb5c7798e582285a42c06435	Additional features, described previously, include congenital glaucoma, @DISEASE$ fibrosis, @PHENOTYPICFEATURE$, developmental delay and facial dysmorphism.	false
+2c4068880ae020f599317319adf85bdbc345c494	Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, @DISEASE$ fibrosis, and @PHENOTYPICFEATURE$.	false
+2881e8a57e90a86d41641c24ff045f65d3bb4d22	Meckel syndrome (MKS) is an inherited autosomal recessive @DISEASE$ fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, @PHENOTYPICFEATURE$, hepatic fibrosis, and polydactyly.	false
+81769f7aa05f8934fdbb2c52def63464953de74d	Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, @PHENOTYPICFEATURE$, @DISEASE$ fibrosis, and polydactyly.	false
+cffc360d05ffb3a406d5331129b5db8cd0d4b3d3	Meckel syndrome (MKS) is an inherited autosomal recessive @DISEASE$ fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and @PHENOTYPICFEATURE$.	false
+f0f9c3d42e07b3e516f4b5aae60f5cdeeace053b	Besides hyperthermic episodes, one patient had @PHENOTYPICFEATURE$, @DISEASE$ failure, and megaloblastic anemia which prompted us to investigate mitochondrial respiratory chain in 2 cases.	false
+bf983911dde01d33517b79c3691957fce59b0b72	Substance-related complications, such as severe @DISEASE$ damage or @PHENOTYPICFEATURE$, are rare.	false
+79c98bbd98c52a2689ce1227437f636c87ff2a02	Associated findings may include @DISEASE$ fibrosis and @PHENOTYPICFEATURE$.	false
+f9e722263dc556c04ef2d8e76ab9232b13af0c7e	She presented with nausea, @PHENOTYPICFEATURE$, abdominal pain, and @DISEASE$ steatosis.	false
+09efde8248ead417b35bf0e8b24d3347555862df	She presented with nausea, vomiting, @PHENOTYPICFEATURE$, and @DISEASE$ steatosis.	false
+2f8d0e1030a152d0acf17213d23f9373e3844a5e	All patients presented with @PHENOTYPICFEATURE$, vomiting, and @DISEASE$ steatosis.	false
+f41e0c4cee2c628ee175c3b9ebd3873e6d9f7fcd	All patients presented with abdominal pain, @PHENOTYPICFEATURE$, and @DISEASE$ steatosis.	false
+33a603ac87ee75face7765d0c597a9daf4f056bf	Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of @PHENOTYPICFEATURE$ and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), @DISEASE$ ductal dysplasia, cysts, and polydactyly.	false
+205740d138d3f397d17863cf1b22e2f9da4cc808	Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), @DISEASE$ ductal dysplasia, cysts, and @PHENOTYPICFEATURE$.	false
+b26730fc9076e23ca639ccf13bcd4425086dd1f7	Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by @PHENOTYPICFEATURE$ and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), @DISEASE$ ductal dysplasia and cysts, and polydactyly.	false
+ceffb67311b5b669f1469f26a25544dcce9d15ca	Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), @DISEASE$ ductal dysplasia and cysts, and @PHENOTYPICFEATURE$.	false
+03384c8b6e0f99aae437e4e52eee02927c94c2a5	Primary diagnoses were?lung cancer (n?=?77), melanoma (n?=?8), head and neck carcinoma (n?=?7), @PHENOTYPICFEATURE$ (n?=?5), Hodgkin's lymphoma (n?=?3), urothelial carcinoma (n?=?3) and gallbladder adenocarcinoma, hepatocellular carcinoma and @DISEASE$ (n?=?1 each).	false
+15164b4130936a9d959de2d922b32017a0c51df2	@PHENOTYPICFEATURE$ and radiation therapy in the treatment of recurrent @DISEASE$.	false
+afb79b38b732e620f37e57b9f683831cb11cc3fe	Genomic analysis of dominantly inherited, progressive @PHENOTYPICFEATURE$ @DISEASE$ in a six-generation kindred revealed a rare heterozygous allele, P2RX2 c.178G > T (p.V60L), at chr12:133,196,029, which cosegregated with fully penetrant hearing loss in the index family, and also appeared in a second family with the same phenotype.	false
+86b748ffdfac620c949386920aff08f40e1e9ad5	@DISEASE$ is also associated with solid @PHENOTYPICFEATURE$, immunologic and cardiovascular, disorders.	false
+0128f7a1b463da33dd3735d6e230760b8a0ec579	An 11-year experience of @DISEASE$ in children diagnosed with Wilms @PHENOTYPICFEATURE$ in a tertiary referral centre.	false
+0ef3a98d2168c88a4f461236d130f1a259eff982	Hyaluronic acid produced by nephroblastoma cells may be the causative factor in atypical @DISEASE$ in Wilms' @PHENOTYPICFEATURE$.	false
+3448406b3b79f00e3f8981b0c5f8020daf8f44dc	Rhabdomyolysis, @PHENOTYPICFEATURE$, pericardial effusion, and @DISEASE$ resulting from hypothyroidism in a 10-year-old girl.	false
+0079a089dbc0a06b617741027a47fef34c3af681	A lesser known presentation of Wilms' @PHENOTYPICFEATURE$ is that of acquired von Willebrand syndrome (@DISEASE$).	false
+8d11caa9ad0fb6cf825e77875001a978633fa13c	A lesser known presentation of Wilms' @PHENOTYPICFEATURE$ is that of @DISEASE$ (AVWS).	false
+5513d77a94d6f242c2692916e9a0e599b7524aaf	In this article we report two cases of AVWS in patients with Wilms' @PHENOTYPICFEATURE$, the discovery of which led to a retrospective study to determine the incidence of @DISEASE$ and coagulopathy in general in association with Wilms' tumour.	false
+591c12500a7b4de81da1ec64b6b7cf7f33625b04	In this article we report two cases of @DISEASE$ in patients with Wilms' @PHENOTYPICFEATURE$, the discovery of which led to a retrospective study to determine the incidence of acquired von Willebrand syndrome and coagulopathy in general in association with Wilms' tumour.	false
+f4d84f01a6c9e3e068ba11fb9614a4beecf15616	In this article we report two cases of AVWS in patients with Wilms' tumour, the discovery of which led to a retrospective study to determine the incidence of @DISEASE$ and coagulopathy in general in association with Wilms' @PHENOTYPICFEATURE$.	false
+08e21111799e84b72b085d76c5aef94002dd761c	In this article we report two cases of @DISEASE$ in patients with Wilms' tumour, the discovery of which led to a retrospective study to determine the incidence of acquired von Willebrand syndrome and coagulopathy in general in association with Wilms' @PHENOTYPICFEATURE$.	false
+cae54477053510a9f4a8add7764a7defacbb6355	Although @DISEASE$ is more frequently associated with lympho-myeloproliferative and cardiovascular disorders, it can also occur in solid @PHENOTYPICFEATURE$ and in immunological and other miscellaneous conditions.	false
+32f040cc4804e7426aa580a2c64aa9ea46f13d1b	Several diseases include lymphoproliferative and myeloproliferative disorders, solid @PHENOTYPICFEATURE$, immunological disorders, cardiovascular disorders and some drugs associated with @DISEASE$ (avWD).	false
+84dc38399c5780db2d35b7baca6baa7060f84689	Although typically a disorder of adults, acquired von Willebrand syndrome (@DISEASE$) is increasingly being recognized in the pediatric population in association with congenital cardiac diseases, certain @PHENOTYPICFEATURE$, and hypothyroidism.	false
+992d6b0a5db1fb0ef3f4c1c4597d04453745a135	Although typically a disorder of adults, @DISEASE$ (AVWS) is increasingly being recognized in the pediatric population in association with congenital cardiac diseases, certain @PHENOTYPICFEATURE$, and hypothyroidism.	false
+d9d7fc2b01676e96d0fe0bc07924f8aa849a30fb	@DISEASE$ (AVWS) is a rare bleeding disorder associated with hematoproliferative disorders, autoimmune conditions, @PHENOTYPICFEATURE$ and cardiovascular disorders that often present a diagnostic challenge.	false
+9e8ef59ff7d354a4616fc3514b1c025cf7c06577	Acquired von Willebrand syndrome (@DISEASE$) is a rare bleeding disorder associated with hematoproliferative disorders, autoimmune conditions, @PHENOTYPICFEATURE$ and cardiovascular disorders that often present a diagnostic challenge.	false
+65dff708a03aece5a04286102194d8f2be9dd403	No association was found with diabetes mellitus, @PHENOTYPICFEATURE$, gender, and @DISEASE$.	false
+173e26915bdc5c811e1cb6d4678e0c474194e3ac	Case 1 had severe @DISEASE$, hypotonia, joint hypermobility, @PHENOTYPICFEATURE$, and dysmorphic features.	false
+f938750e6e6668fcada0489da43ba239b9e4444a	A 17-Year-Old Boy with @DISEASE$ and Craniofacial and @PHENOTYPICFEATURE$.	false
+83933747973789ad3e8022eec80874eabc35b8cf	The most frequent abnormalities include intellectual disability, ectopia lentis, @DISEASE$, @PHENOTYPICFEATURE$ or thromboembolism.	false
+d3a0de53f284a7f6eba962691227540887b41308	In eyes with progressive @DISEASE$, ophthalmic @PHENOTYPICFEATURE$ takes place because of insufficient improvement of the outflow facility coefficient.	false
+cb7421a58f20bef3c687ca977b81f0fe7436504b	Preventive effects are similarly documented in youth and seniors towards several morbid conditions: vitamin D deficiency, multiple sclerosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+05a0e76e8840b79c9657278f55f85f5c2c387aa3	The spondyloepiphyseal dysplasias (SEDs) and spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with and without varying degrees of metaphyseal irregularities, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+f66e63e2db6f2760d48bcf078443fde9e45bfaa1	microdeletion including IFT43 is associated with intellectual disability, @PHENOTYPICFEATURE$, cardiac anomalies, and @DISEASE$.	false
+21dfad09469b55f88c37a8f59d9a16496c80e0b7	There was no association with gender, @DISEASE$, @PHENOTYPICFEATURE$, diabetes, or central corneal thickness.	false
+d131874ec2b6b74d82a1e791986473ff3565291a	To report a new vitreoretinopathy with high @DISEASE$, myelinated nerve fibers, and @PHENOTYPICFEATURE$.	false
+d9547fea1a13104b8c15b1a1e15e8e47a3ade79f	Mutations in several ribosomal proteins (RPs) lead to @DISEASE$ (DBA), a syndrome characterized by @PHENOTYPICFEATURE$, congenital anomalies, and increased frequency of cancer.	false
+c35cdc154a95928d3b6dae8cdc29d85674646b02	Previous studies have documented that these two strains differ significantly in @PHENOTYPICFEATURE$ susceptibility, with @DISEASE$ mice exhibiting greater sensitivity in various convulsant tests compared to C57 mice.	false
+cb9813882717b64d2a8ca955a974a9978d9c2e56	Patients with CV2/CRMP5-Ab presented more frequently @PHENOTYPICFEATURE$, chorea, uveo/retinal symptoms and myasthenic syndrome (@DISEASE$ LEMS or myasthenia gravis).	false
+2e48ed55a925fd39bdff1df8a7ac7d71a682b888	Patients with CV2/CRMP5-Ab presented more frequently @PHENOTYPICFEATURE$, chorea, uveo/retinal symptoms and myasthenic syndrome (Lambert-Eaton myasthenic syndrome @DISEASE$ or myasthenia gravis).	false
+31e97c771fa9cc67d223de498ca905aaf515fdd3	@DISEASE$ (LEMS) is a type of paraneoplastic syndrome that may initially manifest with weakness and @PHENOTYPICFEATURE$.	false
+0f42b1555aaed62b446dfbd052f63d4a2b6a8b9c	@DISEASE$ and @PHENOTYPICFEATURE$: is Response to immunotherapy a clue to pathogenesis?	false
+ad350cf54e593f55a91a7d336323a62e8d3ec858	Several reports have presented patients with subacute @PHENOTYPICFEATURE$ (CA) and @DISEASE$ (LEMS).	false
+432577e32728b0685f6936d29a58f42aa81389bf	Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, @PHENOTYPICFEATURE$, @DISEASE$, and seizures.	false
+940c9031bab7a6e977b01d235e0ad8ba9e943a88	Neurological disorders, in decreasing frequency, were brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, peripheral neuropathy, cranial neuropathy, movement disorder, encephalopathy, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+5280497e23a6121409988579c3dd2b9d3c8c0974	@PHENOTYPICFEATURE$ in non-paraneoplastic @DISEASE$.	false
+17d39270f02f39f42deb1396c64afe29b803b152	We reviewed records of patients at our institution with a diagnosis of "@DISEASE$" and "@PHENOTYPICFEATURE$."	false
+641a339d41eb33531a0f52115d1a681455f63b57	Transient subacute @PHENOTYPICFEATURE$ in a patient with @DISEASE$ after intracranial aneurysm surgery.	false
+53792323cf8f1fde801722f77be9456e0b35c18e	Some smaller studies support explorative IVIG treatment in other neurological diseases such as @DISEASE$, @PHENOTYPICFEATURE$ neuropathy, neuropathy caused by vasculitis, inflammatory myopathies and stiff-person syndrome.	false
+6d761e01e2600fd26555ae6800aeaa93852f88ac	Do calcium channel autoantibodies cause @PHENOTYPICFEATURE$ with @DISEASE$?	false
+dc2228f935f3885f257b99bf6b9f7bf1ecc943a7	Chronic mild stress (@DISEASE$) has been often associated to the pathogenesis of many diseases including @PHENOTYPICFEATURE$.	false
+e77a9c11119b61e197ec95420dabe7fb64a5d2f8	The Centers for Medicare and Medicaid Services (@DISEASE$) covers intensive behavioral therapy (IBT) for @PHENOTYPICFEATURE$.	false
+25b3d3c1b904f243636bf63efd663ca8d6545d7b	Thus, aldosterone excess exerts detrimental metabolic and vascular effects that participate to the development of the @DISEASE$ and its associated @PHENOTYPICFEATURE$.	false
+83603dc4ef6221e42d6df551ab25e7536e68e9bb	Congenital mitral stenosis (@DISEASE$) remains a surgical challenge, particularly when it is associated with other @PHENOTYPICFEATURE$.	false
+18506a746b5fac54fde5163b90e2096baaeb1e87	Preoperative MR images showed no differences in tumor size, @PHENOTYPICFEATURE$, or peritumoral edema in patients with and without @DISEASE$.	false
+7c3ccc33547227c5494cdc6996a0f400198272a0	A central metabolic syndrome (@DISEASE$) has been identified comprising @PHENOTYPICFEATURE$, dyslipidaemia and insulin resistance.	false
+33e4638fa4226e577de65c7758f8bd6f3950da80	Between 1980 and 1999, 72 children were operated on for @PHENOTYPICFEATURE$, including @DISEASE$.	false
+fa6b540801d6c479d519596e26a68dcddc8ca2a8	The presence of breathlessness or palpitations, sleep disturbance, cyanosis, dilatation of veins, paraesthesia, headaches, @PHENOTYPICFEATURE$ and Hb ?21 g dl(-1) , have been included for the @DISEASE$ score.	false
+4860d3f594466e066f6f677e51540bb7c62c69f6	Diagnosis of @DISEASE$ ("Qinghai CMS Score") is based on seven signs/symptoms (breathlessness and/or palpitations, sleep disturbance, cyanosis, dilatation of veins, paresthesia, headache, @PHENOTYPICFEATURE$) and the score for EE.	false
+0db581a899d41e8a199c059ea74ac1c5c8c9de7a	Compared with healthy adults, the borderline elevated hemoglobin group frequently had symptoms (headaches, @PHENOTYPICFEATURE$, cyanosis, dilatation of veins) of @DISEASE$.	false
+fb1a75693ebec5cbf237162cce85be4d50b3965b	We report the first Egyptian family with @DISEASE$ comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+acc7a4dcede2a6bf2cd189be608b460a8238f4d1	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of @DISEASE$, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+694859f01ac0f07a8153ce326df3b6f03c50324a	We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and @PHENOTYPICFEATURE$ typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of @DISEASE$, including syndactyly, thumb hypoplasia, and microphthalmia.	false
+70252f9d340fbe107e9fabe4abf5449dcaa2d0fb	The major specific afflictions that affect patients with stroke who experience pain include central poststroke pain, @DISEASE$, and pain associated with @PHENOTYPICFEATURE$ and shoulder subluxation.	false
+3f6263912d5f0f60159c18bef7d851d20278514e	A review is provided for the treatment of radiculitis, failed back surgery syndrome, @DISEASE$, peripheral neuropathies, pelvic pain, occipital neuralgia, angina, ischemic extremity pain, and @PHENOTYPICFEATURE$.	false
+64eb4a7f4bbcbe7cb085acea759611d67dcd4ea7	We report on a patient with a @DISEASE$ (CDG-Id) caused by a homozygous mutation in the ALG3 gene, which results from a de novo @PHENOTYPICFEATURE$ in combination with a segmental maternal uniparental isodisomy (UPD).	false
+340ebf4f073e6bf7b6ed7612e66407e842afea13	The clinical consequences of PTH deficiency or impaired receptor action are multidirectional and include nervous hyperexcitability, paresthesias, cramps, tetany, @DISEASE$, convulsions, cataract, weakened tooth enamel, brittle nails and @PHENOTYPICFEATURE$.	false
+6d80da065da71edc749c858faf3ff34d75dc006a	Among 165 patients enrolled, the symptoms and signs most frequently found were spasticity (in 97.5% of patients), @DISEASE$ (95.4%), lower limb @PHENOTYPICFEATURE$ (90.2%), pyramidal signs (82.6%), urinary complaints (82.0%), and lumbar pain (79.0%).	false
+bd146a55032f86a65d4c746e1d43529b8a92ff06	Physical examination showed @PHENOTYPICFEATURE$, neck stiffness, @DISEASE$ and flaccid paralysis in her all extremities, and pathological reflexes.	false
+11a51cf5e7f02108904a80c829626d1c922d79ec	The patient, a 40-year-old white woman, presented with spastic paraplegia, @DISEASE$, bilateral Babinski sign, superficial and deep sensitive @PHENOTYPICFEATURE$ at the T4 level, in addition to bladder and rectal dysfunction since she was 32.	false
+cd916f7251151dc5496e2d6a73269719b959c10e	There was decreased sensitivity and strength of the pelvic limbs and gradually presented with anaesthesia from T12 to L4 dermatomes, L5 and S1 bilateral @PHENOTYPICFEATURE$ and 4+/5 bilateral strength, in the L2 root and 2+/5 in L3, L4, L5, S1, @DISEASE$, Babinski and clonus, but with no alteration in the sacral reflexes.	false
+ba6b40fccaeba9c7d21774eb03acd98ce48b88dc	She presented with tactile @PHENOTYPICFEATURE$, hypoparaesthesia, distal @DISEASE$ and dysymmetry of the legs, ataxic-spastic gait and a positive Romberg sign.	false
+f3dbeebde8b484ee621afcd80b40113add5d0839	Other clinical symptoms that can be associated with MSA include @DISEASE$, stridor, @PHENOTYPICFEATURE$, and rapid eye movement sleep behavior disorder (RBD).	false
+83578df17b877b6903ed837b65c8087c2a1a997a	@PHENOTYPICFEATURE$ in children with @DISEASE$ is a challenging entity for the otologic surgeon.	false
+e8edda6831d294ee00d69ed5d06f78f0bd6e7f96	The buccal smear test was used to screen for @DISEASE$ in a sample of girls with @PHENOTYPICFEATURE$ who did not have any other clinical features of that condition.	false
+7e6caf3040f156cd22c550ed9ca2a6f974f87fd4	Effect of growth hormone therapy on @PHENOTYPICFEATURE$ and skeletal deformities in a patient with combined @DISEASE$ and Langer mesomelic dysplasia.	false
+04c39a16ec37dcd80d0be1056e22aeb8173f9b82	We reviewed 179 girls with @DISEASE$ between 1989 and 2012 to identify cases of @PHENOTYPICFEATURE$.	false
+342991ca155c6c4d48094daeee16c34e7c507326	@PHENOTYPICFEATURE$ has a high prevalence in @DISEASE$, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians.	false
+1d8d42d9a77a1531acf9bd16ac8e6b8698e70341	Our case presented with @PHENOTYPICFEATURE$ and skeletal deformities with @DISEASE$ (TS) and a SHOX gene abnormality due to a downstream allele deletion in her normal X chromosome.	false
+de90f594d1505e1de612b971a8fc7f5ef95b5a56	Girls with @DISEASE$ are prone to @PHENOTYPICFEATURE$, a serious suppurative middle ear disease.	false
+ce1ef6cb23be2c98d2e70a68b684a04c00c2800c	@PHENOTYPICFEATURE$ has a high prevalence in @DISEASE$.	false
+5272c0d5e61f4db3a1e64959bcde08180e78907b	[A case of genital @PHENOTYPICFEATURE$; @DISEASE$ in man].	false
+a1d082621a892f2ba09489dbd967327e9855da24	@DISEASE$ is a well-known cause of @PHENOTYPICFEATURE$ in girls, but its frequency among these patients must vary in different populations.	false
+1cb8750f666b5f1824cbc721d10b1740e3dbc8bc	Despite significant advances in medical research and long clinical history of anti-diabetic medications, the risk of @PHENOTYPICFEATURE$ in people with diabetes @DISEASE$ declines.	false
+88821887e60808efa81225bc5c83a60b1c1c9511	There is a summation of electrical and mechanical damage; however, complete @PHENOTYPICFEATURE$ @DISEASE$ occurred and the EABR provided no evidence for a major retrocochlear damage.	false
+f443424370cdc218e5ead2b08efc1f084ccc2459	Separate logistic regression models were used to examine the associations of diabetes (A1C ?6.5% or diagnosis by a health care provider) in young adulthood with 1) obesity timing (never obese, onset <16 years, onset 16 to <18 years, onset ?18 years) and 2) obesity duration over time (@DISEASE$ obese, incident @PHENOTYPICFEATURE$, fluctuating obesity, and persistent obesity), testing differences by sex and race/ethnicity.	false
+a2aec261ad6e4cda2260f46bcfb0af0843df00fa	Separate logistic regression models were used to examine the associations of diabetes (A1C ?6.5% or diagnosis by a health care provider) in young adulthood with 1) obesity timing (@DISEASE$ obese, onset <16 years, onset 16 to <18 years, onset ?18 years) and 2) obesity duration over time (never obese, incident obesity, fluctuating @PHENOTYPICFEATURE$, and persistent obesity), testing differences by sex and race/ethnicity.	false
+3e71778e1b925bb6fd759a386e5697a4cbb1c83d	Separate logistic regression models were used to examine the associations of diabetes (A1C ?6.5% or diagnosis by a health care provider) in young adulthood with 1) obesity timing (never obese, onset <16 years, onset 16 to <18 years, onset ?18 years) and 2) obesity duration over time (@DISEASE$ obese, incident obesity, fluctuating obesity, and persistent @PHENOTYPICFEATURE$), testing differences by sex and race/ethnicity.	false
+73647a6d401c4d8e67d574ae5e28ca237e8bc5fb	Separate logistic regression models were used to examine the associations of diabetes (A1C ?6.5% or diagnosis by a health care provider) in young adulthood with 1) obesity timing (@DISEASE$ obese, onset <16 years, onset 16 to <18 years, onset ?18 years) and 2) obesity duration over time (never obese, incident @PHENOTYPICFEATURE$, fluctuating obesity, and persistent obesity), testing differences by sex and race/ethnicity.	false
+92b90ff6b0ff950b371dd43590b5c8bbaa93bc35	Separate logistic regression models were used to examine the associations of diabetes (A1C ?6.5% or diagnosis by a health care provider) in young adulthood with 1) obesity timing (never obese, onset <16 years, onset 16 to <18 years, onset ?18 years) and 2) obesity duration over time (@DISEASE$ obese, incident obesity, fluctuating @PHENOTYPICFEATURE$, and persistent obesity), testing differences by sex and race/ethnicity.	false
+88712dc80b4d2a4b522363163d13c016a5ea74ce	Separate logistic regression models were used to examine the associations of diabetes (A1C ?6.5% or diagnosis by a health care provider) in young adulthood with 1) obesity timing (@DISEASE$ obese, onset <16 years, onset 16 to <18 years, onset ?18 years) and 2) obesity duration over time (never obese, incident obesity, fluctuating obesity, and persistent @PHENOTYPICFEATURE$), testing differences by sex and race/ethnicity.	false
+837b6b828d2a18022f3f3499f07aaa9c7dc5795f	To study the possible relationships of SREBPs with @PHENOTYPICFEATURE$, we determined their expression levels in intra- and extraperitoneal adipose tissue samples of obese, post-obese and @DISEASE$-obese humans.	false
+baa43caf7bca2fc8f579820a7e054ef369acf7b6	These distortions make overweight and @PHENOTYPICFEATURE$ appear less harmful by obscuring the benefits of remaining @DISEASE$ obese.	false
+7db622eaaadb203aacf7dac4b734c0a346daebee	Postoperative @PHENOTYPICFEATURE$ @DISEASE$ occurred.	false
+1032f80c3c98036b3e9226e89735712cb8a64fed	Three weight status groups were identified: persistent obesity, later onset @PHENOTYPICFEATURE$, and @DISEASE$ obese.	false
+359bd198ca89d47f8d4e4ee3e028b25b6e211ba9	Three weight status groups were identified: persistent @PHENOTYPICFEATURE$, later onset obesity, and @DISEASE$ obese.	false
+b2f29beafcdcb7614eca90a4d8b6233855e81238	The main exposure variable was @PHENOTYPICFEATURE$ (defined as @DISEASE$ obese, became obese, always obese, and became nonobese).	false
+73c9769b270e7383576cfeaa31ec5d72680e22d4	Also, exclusive breastfeeding ?6 months (versus @DISEASE$) was associated with a decreased risk of childhood and adolescence @PHENOTYPICFEATURE$ by 30% (95% CI, 0.54-0.91)	false
+6b800b82d5576cb7a7f9787cc15ddc33a975ecd4	On the other hand, it has been recognized that @PHENOTYPICFEATURE$ may arise in the absence of any systolic dysfunction and CHF due to systolic dysfunction @DISEASE$ occurs in the absence of concomitant diastolic dysfunction.	false
+06f9ee7432b8050eb0e0a0aa2c5550dd1ae9ac05	The present study reports the case of a 3-year-old female with certain typical features of trisomy @DISEASE$, who presented with a number of the distinctive symptoms, as well as @PHENOTYPICFEATURE$, which has not previously been associated with this trisomy.	false
+f57e60c0d33f6f37dd8fa5672856677f1f342f01	Norrie disease is an @DISEASE$ that presents with congenital blindness, @PHENOTYPICFEATURE$, and mental retardation.	false
+017f72666d1bda04027a9dc7391e05bcfbba8e72	Age-related @PHENOTYPICFEATURE$ and frailty in @DISEASE$: interconnected associations and mechanisms.	false
+81b3f7c30830e7f940cb5b2552ba28026f4229df	Familial Danish Dementia (FDD), an early-onset non-amyloid-? (A?) cerebral @PHENOTYPICFEATURE$, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in Alzheimer's disease (@DISEASE$).	false
+c5f43fcdabdc3ab7aaebf6657b2a4e0b15185b89	Familial Danish Dementia (FDD), an early-onset non-amyloid-? (A?) cerebral @PHENOTYPICFEATURE$, is neuropathologically characterized by widespread cerebral amyloid angiopathy, parenchymal amyloid and preamyloid deposits, as well as neurofibrillary degeneration indistinguishable to that seen in @DISEASE$ (AD).	false
+37a137168903fa373aa89eae787d960dd77211e3	@PHENOTYPICFEATURE$ and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (@DISEASE$-SCID).	false
+4b5d31a1667af9805355e3bd23de40597ad83f56	The benefits of HRT include reduced risk for myocardial infarction and @DISEASE$, and @PHENOTYPICFEATURE$.	false
+ae329ccc5e2f9f6db08d7b8a4c1827e55a11429d	Vagus nerve stimulation (VNS) is currently used to treat refractory epilepsy and is being investigated as a potential therapy for a range of conditions, including heart failure, @PHENOTYPICFEATURE$, obesity and @DISEASE$.	false
+b08a74642fef9a7d3afa0ec725ca9509ba2e5207	Vagus nerve stimulation (VNS) is currently used to treat refractory epilepsy and is being investigated as a potential therapy for a range of conditions, including heart failure, tinnitus, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+dee845788090fe5fcc203c09217ea51540ab04b3	Vagus nerve stimulation (VNS) is currently used to treat refractory epilepsy and is being investigated as a potential therapy for a range of conditions, including @PHENOTYPICFEATURE$, tinnitus, obesity and @DISEASE$.	false
+dd69704cbeaccd67cf1eb8a4adeaeef8c53fe5b3	DS is accompanied by @PHENOTYPICFEATURE$, hearing and vision problems, obesity, leukemia, and other conditions, including @DISEASE$ (AD).	false
+73251c448acd5c7a7278bb72492e83a17c46741b	DS is accompanied by heart defects, hearing and vision problems, @PHENOTYPICFEATURE$, leukemia, and other conditions, including @DISEASE$ (AD).	false
+df5266ef17d6164ff13b40d020edfcbed9c1f220	Pure word @PHENOTYPICFEATURE$ in a patient with early-onset @DISEASE$: an unusual presentation.	false
+792b2588e08c600987d27f47b5cc92906ceb709a	Normotensive @PHENOTYPICFEATURE$ and @DISEASE$ may be differentiated in evaluating the PHFS.	false
+3d719fb07243b5168d558e5e1681ad4bb3aa6d07	@PHENOTYPICFEATURE$ and risk of @DISEASE$: a meta-analysis of prospective cohort studies.	false
+632fed5bca0c55d0357db3f46d17f570c1909adc	Furthermore, RCC cells treated with @DISEASE$ showed remarkable @PHENOTYPICFEATURE$ in a dose dependent manner.	false
+93d1b6b50613a78f7deb637841c88c5c6e9d307b	[Hyponatremia and renal @DISEASE$ loss in a patient after resection of an intracerebral @PHENOTYPICFEATURE$].	false
+19c97079962b08ea316304b37cb1e9ac8a48ff05	Health professionals should be aware of the risks of @PHENOTYPICFEATURE$ in older patients treated with lithium, especially in the context of @DISEASE$ level abnormalities.	false
+7f5dddae7d1780860f18f8c580c355147995c8e5	@DISEASE$ with @PHENOTYPICFEATURE$ in Cornelia de Lange syndrome.	false
+73802a074575320f3b2fe31b7bf9de2df2cec6ec	The results showed that @DISEASE$ activity was closely related to the development of @PHENOTYPICFEATURE$.	false
+6045495e96e401c2d01b4c91edbf180ae53ace80	Introduction?We describe a newborn female infant with @DISEASE$ (SOD) presenting with bilateral @PHENOTYPICFEATURE$ and fixed pupils.	false
+760dbce39e2336897b4202f662dc504e1119be7e	These malformations and their imaging characteristics are discussed under the headings of: corpus callosal dysgenesis, intracranial lipomas, holoprosencephalies, @DISEASE$, the cephaloceles, the Chiari malformations, the Dandy-Walker complex, the @PHENOTYPICFEATURE$ including Joubert's syndrome, and rhombencephalosynapsis, and the spectrum of neuronal migration anomalies.	false
+174a314d5fccfd35c156a4abb0f4c18056b3fde8	Hypertonic @DISEASE$ resuscitation is associated with @PHENOTYPICFEATURE$ and death.	false
+f7ad4cbe70224545129166394700024025266799	Juvenile nephronophthisis features @DISEASE$ wasting, anemia, and @PHENOTYPICFEATURE$.	false
+30a65671c60703188964e30c46148a6603e5fe9c	The brain had malformative features of @DISEASE$ combined with commissural dysplasia and @PHENOTYPICFEATURE$.	false
+4acc4f0e7e60b94b578e6cbb6f69f70f5cff88d6	We propose that this patient's capacity to produce urine virtually free of @DISEASE$ despite advanced @PHENOTYPICFEATURE$ was a result of the persistent loss of sodium from his ileostomy.	false
+a093e850a266a5cac3ac4808e808a3b819c3ea0b	This is the first study of a BOR patient with congenital @PHENOTYPICFEATURE$ and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/@DISEASE$ syndrome.	false
+a661fda6c954a383ff4e9213ad25d21e2384eefe	This is the first study of a BOR patient with congenital cholesteatoma and the second family in which @PHENOTYPICFEATURE$ and anomalies of the facial nerve are described in patients with the BO/@DISEASE$ syndrome.	false
+7ef91ffb641ea472442e7ed7b637b17e54a7d3ba	We describe a 14-month-old girl with unilateral congenital @PHENOTYPICFEATURE$ and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (@DISEASE$) syndrome.	false
+6c599b72f463dbf7f90bb734c46d964b5ff9ec53	These unusual areas of thin, @PHENOTYPICFEATURE$ wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (@DISEASE$) syndrome (MIM 113650).	false
+50f27cade0cdd8ee208c857d05f9654c74ca0be2	Congenital @PHENOTYPICFEATURE$ and malformations of the facial nerve: rare manifestations of the @DISEASE$ syndrome.	false
+ca6957c789ed224fc5dc918fef07dbe218f56edb	Through this case report we aim to discuss the pathophysiology of @DISEASE$ (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and @PHENOTYPICFEATURE$.	false
+1886961e3fc944b97c10f99cfd52dd0056db932f	Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a88e209563b54896fc297680be9effd8576f077f	Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (@DISEASE$), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and @PHENOTYPICFEATURE$.	false
+84878363253a144d46edaa4802d660c5819f3831	Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and @DISEASE$ may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and @PHENOTYPICFEATURE$.	false
+2d8234f524f4917d4a1918d0af21476ca56493b0	A 2-year-old boy with Proteus syndrome, with epidermal verrucal naevus, hyperplastic lesions of connective tissue, hyperostosis, @PHENOTYPICFEATURE$ of tubular bones, bilateral inguinal hernia, and @DISEASE$ was scheduled for vertebral magnetic resonance imaging (MRI) for further evaluation of malignancies.	false
+8bc37cb44aac1ab97dfd8820c4b6c2f148de2564	Cytogenetic studies of a patient with @DISEASE$ and multiple congenital @PHENOTYPICFEATURE$, extremities, and abdomen revealed a de novo interstitial deletion of Chr 10 as the only defect, del(10)(10q22.3q24.1).	false
+11c9a7b3cbb1d1fa8bdc2e980c02c502dd6b6d45	General anesthesia or sedation can mask a @PHENOTYPICFEATURE$-@DISEASE$ mental status.	false
+c4b4e5a821980b12724d0792797c066a45b2bab4	Our patient, now aged 5 years, has remained in excellent health with normal growth and development on fasting avoidance, a modified vegan diet, and sodium phenylbutyrate.These five cases demonstrate that generalized liver dysfunction/failure is a potential serious complication of OTC deficiency, although not a common one, and suggests that an @DISEASE$ and PT should be obtained in OTC patients during episodes of @PHENOTYPICFEATURE$.	false
+1d09a91badd2ad4887219fe99971d0ade0365538	It had been proposed that the mechanism involves metabolic idiosyncrasy based on the observations that liver injury is not usually associated with @PHENOTYPICFEATURE$, rash, or prompt increase in alanine aminotransferase (@DISEASE$) upon rechallenge.	false
+e6847ed160f305be3f488c4f2794b42206846c05	Moreover, after the emergence of YMDD mutants, short latency to the emergence of YMDD mutant, mixed type @PHENOTYPICFEATURE$, and low baseline ALT level were associated with elevation of @DISEASE$ or viral load.	false
+11a60b7517dc7829b72e33b100ec88df84bdd967	The local @PHENOTYPICFEATURE$ @DISEASE$ metabolism, exacerbates tissue hypoxia, and increases thermosensitivity.	false
+a80aa3322e25a25480e50f8d49217cd563e85920	The patient presented with neurological @DISEASE$, @PHENOTYPICFEATURE$ and convulsions, so the initial presumptive diagnosis was an opportunistic brain infection.	false
+715a415ce98dfb848439d6e67caf165edcf9a295	Cough, diarrhoea, @PHENOTYPICFEATURE$, splenohepatomegaly, alimentary tract haemorrhage and raised @DISEASE$ were also found.	false
+faf784ed1b024e881604b9d6ed546dffe64caf1c	Patients with type 1 diabetes exhibit @DISEASE$ cerebral metabolism during @PHENOTYPICFEATURE$.	false
+8788687b0440d380420908ef962d889723618ff8	Whether such efforts designed to @DISEASE$ metabolic abnormalities associated with cancer @PHENOTYPICFEATURE$ will improve clinical outcome will be determined in ongoing clinical trials.	false
+d6c64c88f759f496e54e90b257375b9a88ed647f	Health professionals should include leishmaniasis in the differential diagnosis in patients returning from southern Europe - including short-term travellers - with typical skin lesions or systemic @DISEASE$ like @PHENOTYPICFEATURE$, hepatosplenomegaly and pancytopenia.	false
+1ee468eaca726c675d89f564cea1fb8068c68141	@DISEASE$ (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely @PHENOTYPICFEATURE$, and osteoporosis leading to recurrent fractures.	false
+4ccb976d2b7ece4a928e169abf94a016b33ac4fb	The severe autosomal recessive form of @DISEASE$ was encountered in two infants, both of whom developed @PHENOTYPICFEATURE$ and became blind.	false
+628a4974da1cf72e98a81b500baa803ff804808e	The syndrome of @DISEASE$, renal @PHENOTYPICFEATURE$ and cerebral calcification in two sisters.	false
+c2d7acd94e34ae751a5ca31d98622bafc6453206	@DISEASE$ causes @PHENOTYPICFEATURE$, cerebral calcification and mental retardation.	false
+8c586562de7dd409658f656e3673e24a53ef7f8c	@DISEASE$ is commonly associated with @PHENOTYPICFEATURE$.	false
+bd923459170f368dbf7ed6a2553462a555880e0d	To identify the cause, 8 children with @DISEASE$ and @PHENOTYPICFEATURE$ were studied.	false
+91004c5bfd269da89fd0ede2a582320eaf0e6860	@PHENOTYPICFEATURE$ and brain atrophy in marble-bone disease (@DISEASE$).	false
+72631c48d5743e1789264ea6504b80ec803db7e0	@PHENOTYPICFEATURE$ and brain atrophy in @DISEASE$ (osteopetrosis).	false
+8f41475f4dabd9a0e63944ffe4c423cf253614a1	Here we report a rare case of malignant @DISEASE$ presented with evidence of @PHENOTYPICFEATURE$, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.	false
+a0b3d9a632e34d71c477a011668de2a2564ceee4	Here we report a rare case of malignant @DISEASE$ presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant @PHENOTYPICFEATURE$.	false
+b537042aae2712a5cd0002a68e83d7f7e005464e	Potential oligogenic disease of mental retardation, @PHENOTYPICFEATURE$, spastic paraparesis, and @DISEASE$.	false
+3cce2c786a63093d43a7c6cfb810e9389028207d	Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes @PHENOTYPICFEATURE$, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with @DISEASE$ (OPT).	false
+5d0f1acd4944b9524e5603192f5b92f2d1bcf892	Dysosteosclerosis (DSS), an extremely rare dense bone disease, features @PHENOTYPICFEATURE$ and fractures and sometimes optic atrophy, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with @DISEASE$ (OPT).	false
+e6652589da67aefdf67268917380065336f9ea7c	@DISEASE$ leads to bone marrow failure and @PHENOTYPICFEATURE$ due to optic nerve compression.	false
+2f4b4257782f73e8f346e01fd0199984d9665763	Both became jaundiced and were found to have @PHENOTYPICFEATURE$ and @DISEASE$. The causes of the meconium ileus were not established.	false
+3ce12071b54dedf9800855360e5dc8f10c64e3cf	There were 274 patients with narcolepsy; @PHENOTYPICFEATURE$; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical hypersomnia cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, @DISEASE$).	false
+fec3bd6340b19d87efe9238b5605e78216284012	There were 274 patients with narcolepsy; hypersomnia; obstructive sleep apnea; restless legs syndrome; insomnia; and atypical @PHENOTYPICFEATURE$ cases such as familial cases, narcolepsy without cataplexy or without HLA-DQB1*0602, recurrent hypersomnias, and symptomatic cases (eg, Parkinson disease, depression, Prader-Willi syndrome, @DISEASE$).	false
+fd45bd998218979ea2d2aaf395f2851253288503	The differential diagnosis of resistant hypertension with low renin and low/normal aldosterone includes congenital adrenal hyperplasia, syndrome of apparent mineralocorticoid excess, Cushing's syndrome, @DISEASE$ and 11-deoxycorticosterone-producing @PHENOTYPICFEATURE$.	false
+193f89a9065b11b5a26663189bb0cb2b05fcb45b	Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting @PHENOTYPICFEATURE$, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - Conns syndrome, familial hyperaldosteronism 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, @DISEASE$, deoxycorticosterone-secreting tumors, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes.	false
+e828e3ca7f7e985d83ee628a5fc92ab899ea8ad4	Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting tumors, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - Conns syndrome, familial hyperaldosteronism 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, @DISEASE$, deoxycorticosterone-secreting @PHENOTYPICFEATURE$, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes.	false
+29bcd3979943bbbe27828708397caa6fbc4e80ff	These findings indicated that the inability of the reproductive parameter to discriminate a patient was associated with @PHENOTYPICFEATURE$ in a population, and a @DISEASE$ of the adrenal gland (arrest of adrenarche) was implicated in the genesis of cervical cancer.	false
+883ef8bf6b97bceb39a3cb3a224c9c6953069f34	@DISEASE$: a distinct newborn @PHENOTYPICFEATURE$.	false
+bfa4eec2f8f9fefc7052b52e79f21c276d5900d9	@DISEASE$ airway dysfunction is the most likely cause of @PHENOTYPICFEATURE$ and hypercapnia.	false
+db50e5f3c02da53d446ca97034b429436f051d06	The aim of this study was to identify if botulinum toxin type A is a drug able to modify walking velocity, step length, and width of the base of support of adult patients with dynamic equinovarus @PHENOTYPICFEATURE$ resulting from @DISEASE$ motor neuron syndrome.	false
+1d11b600a87779546cc3145ce47f268eb7c0705b	The aim of this study was to identify if botulinum toxin type A is a drug able to modify walking velocity, step length, and width of the base of support of adult patients with dynamic @PHENOTYPICFEATURE$ foot deformity resulting from @DISEASE$ motor neuron syndrome.	false
+997288cbbd1d457f30ae7111da0c406316489849	These eruptions often are associated with peripheral blood @PHENOTYPICFEATURE$ and occur mainly on the face, upper back, and @DISEASE$ extremities.	false
+57f09ff41c58efde31d9d3ad3924363f0f9959ce	Complications from previous surgery included residual ptosis, @PHENOTYPICFEATURE$ overcorrection, poor lid contour, dry eye, corneal exposure, and @DISEASE$ and lower lid entropion/ectropion.	false
+35fd65b38b7b4e4f61ffe2c3ed04e8b6ca024b44	Complications from previous surgery included residual @PHENOTYPICFEATURE$, ptosis overcorrection, poor lid contour, dry eye, corneal exposure, and @DISEASE$ and lower lid entropion/ectropion.	false
+2a0be90abb1047e9a8d1a614ec915ca6f54f79c1	Major symptoms are extremely variable @PHENOTYPICFEATURE$, cupid bow of the @DISEASE$ lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay.	false
+77934c28275abf37c9e0f4a7dbc407bac7ede684	Our series includes 204 patients with anterior epistaxis (186), and with posterior @PHENOTYPICFEATURE$ (18) as results of trauma, clotting disorders, chronic and/or atrophic rhinitis and @DISEASE$ respiratory infections, and hypertension.	false
+9c46ac4230fab9ad2dba0e3c2f83ae758a2922dc	Our series includes 204 patients with anterior @PHENOTYPICFEATURE$ (186), and with posterior epistaxis (18) as results of trauma, clotting disorders, chronic and/or atrophic rhinitis and @DISEASE$ respiratory infections, and hypertension.	false
+747082a590e86a668275f3634d0c4a801f381d4c	Later, he developed nodules and papules associated with @DISEASE$ airway involvement and ocular @PHENOTYPICFEATURE$ without lung or renal involvement.	false
+ccedd9aee46efeec29a6e627dd33ebce38263d1a	Coeliac plexus block for @DISEASE$ abdominal cancer @PHENOTYPICFEATURE$.	false
+64ab280546c8fa2136dc1bd8c4e1f43a4bfd5ec4	During the evaluation short stature, @PHENOTYPICFEATURE$, submucous cleft palate with cleft uvula, flat feet, and frequent @DISEASE$ respiratory infections, as well as the large fontanelle after birth were observed.	false
+d38cb8cc1081a580a5b14a0af3fdd73d52d94eae	The main features of which include unusual craniofacial dysmorphism with ptosis, @PHENOTYPICFEATURE$, flat midface, Cupid's bow configuration of the @DISEASE$ lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay.	false
+1069e7badb40828b56004c3def77b22a862632bb	The main features of which include unusual craniofacial dysmorphism with ptosis, prominent eyes, flat midface, Cupid's bow configuration of the @DISEASE$ lip, low-set, posteriorly rotated small ears, as well as @PHENOTYPICFEATURE$, cleft palate, heart defect, and mild developmental delay.	false
+cd236ab8c939775a0de829212dab3ee22f2f7b4a	The main features of which include unusual craniofacial dysmorphism with @PHENOTYPICFEATURE$, prominent eyes, flat midface, Cupid's bow configuration of the @DISEASE$ lip, low-set, posteriorly rotated small ears, as well as conductive hearing loss, cleft palate, heart defect, and mild developmental delay.	false
+9f4e15f77db425638a7ba43a3b7492908c3f4090	Branchio-oculo-facial syndrome (@DISEASE$) is a rare disorder characterized by maldevelopment of the first and second branchial arches, skin defects, @PHENOTYPICFEATURE$, auricular, ophthalmological and oral abnormalities.	false
+0e8aa23a39ab1732037afca508efbb44379c5d49	@DISEASE$ (X-BSMA) is characterized by bulbar and spinal @PHENOTYPICFEATURE$ and fasciculations.	false
+9b94c3f23244e52bee398c3e986d560acf53119b	@PHENOTYPICFEATURE$ and subdural @DISEASE$ were well known factors that enlarge the subdural space, which induced formation of chronic subdural hematoma (CSDH).	false
+73c3b4070f2b42b5c772b9de229f8509fb42486f	Subdural @DISEASE$, a common finding, is the result of severe @PHENOTYPICFEATURE$ and little can be expected by surgical intervention.	false
+d6be80ec6870c2252db67d063f8edf11cafd50b1	Increased ONS diameter measured on coronal orbital thin-slice fat-saturated T2-weighted MR images is a strong indicator of increased ICP, and helps to differentiate between passive subdural fluid collection due to @PHENOTYPICFEATURE$ and subdural @DISEASE$ with increased ICP.	false
+bfc052071536ebc24184553d99a531c3521f8636	In patients with filaminopathy, @PHENOTYPICFEATURE$ typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (>50 years) with distal weakness was more often present in @DISEASE$.	false
+701a97d0cddf224da7d54b33d3e35b61d5455cbd	The @PHENOTYPICFEATURE$ was suspected as the @DISEASE$ of the humerus by a core needle biopsy.	false
+f8f8397d4de15acd0f96c0060e7358b52d055d5d	We are reporting the cases of five patients with a @PHENOTYPICFEATURE$-like lesion that has recently been called @DISEASE$ but has also been called osteogenic fibroma, monostotic cortical fibrous dysplasia, and a variant of fibrous dysplasia.	false
+f178e362ff3a5f6d0d04949fb4cb83047651ae7b	We are reporting the cases of five patients with a @PHENOTYPICFEATURE$-like lesion that has recently been called osteofibrous dysplasia but has also been called osteogenic fibroma, monostotic @DISEASE$, and a variant of fibrous dysplasia.	false
+aff4afb43efcd26b8223d95fb3da24bc2db0a2c8	@DISEASE$ is a @PHENOTYPICFEATURE$ of childhood that may be seen in the newborn.	false
+57084b23dda9003851ded5b0af1317f714e7dccb	@DISEASE$ (OFD)-like @PHENOTYPICFEATURE$ displayed local spicular density or pericellular staining of basement membrane factors in fields of isolated keratin-positive cells.	false
+4fe381404a3b47e8e2d86fa70d8194bc742aef6c	Osteofibrous dysplasia (@DISEASE$)-like @PHENOTYPICFEATURE$ displayed local spicular density or pericellular staining of basement membrane factors in fields of isolated keratin-positive cells.	false
+ec24170b006ffa350a3657474066f1c3d8790a4c	V?radi syndrome, designated @DISEASE$ type VI, is a rare disorder that is additionally characterized by @PHENOTYPICFEATURE$.	false
+d224a5ebe69e9bcd3e722e4e28c2948899158044	The present fetus fulfilled the diagnosis of @DISEASE$ syndrome: Dysmorphic features, @PHENOTYPICFEATURE$ and lobulate tongue and polysyndactylies of the feet and hands.	false
+94d47d4db4f3ea7eaf41f64f98360f2f2104b62f	The surgical management of osteofibrous dysplasia (@DISEASE$), a rare developmental @PHENOTYPICFEATURE$-like condition of childhood that has a predilection for the tibia, ranges from curettage or subperiosteal resection to extraperiosteal wide resection followed by reconstruction.	false
+e74eb95b750695c3de473db3ed559c934a327fd5	The surgical management of @DISEASE$ (OFD), a rare developmental @PHENOTYPICFEATURE$-like condition of childhood that has a predilection for the tibia, ranges from curettage or subperiosteal resection to extraperiosteal wide resection followed by reconstruction.	false
+f83076a12085e48ac3c6507cb8b50ae25ac99f6a	Microscopy showed a @PHENOTYPICFEATURE$ composed predominantly of @DISEASE$-like areas with focal cytokeratin positive epithelial islands.	false
+47b1b4da56da322abbcb77141719883791a93185	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and @PHENOTYPICFEATURE$.	false
+51b14f54035c10952b123cd13c0e129c0b30f2a5	We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive @DISEASE$ VI diagnostic criteria including a severe fetal case with microphthalmia, @PHENOTYPICFEATURE$, corpus callosum agenesis, polydactyly and skeletal dysplasia.	false
+4c32d29da8309ab28c241576a1dc270f66d1b725	@DISEASE$ (OFD) is a @PHENOTYPICFEATURE$-like bone lesion that occurs most often in the tibia, presenting as a painless swelling or anterior bowing.	false
+1d6c683de9f2d3c4349b0dc73876a668470e44d4	Osteofibrous dysplasia (@DISEASE$) is a @PHENOTYPICFEATURE$-like bone lesion that occurs most often in the tibia, presenting as a painless swelling or anterior bowing.	false
+bcb98e2a8ea0bf3c970340f20194a3b1c5048240	Clinically and macroscopically @DISEASE$ can simulate @PHENOTYPICFEATURE$ or abscesses and can cause diagnostic difficulties.	false
+b18d2744b49b4e17b7d3286f635e96dd7f5e6087	[Renal @DISEASE$: an underestimate cause of @PHENOTYPICFEATURE$].	false
+dc44b61e0056b4dea144bc96c8f2f5af4969722a	Renal @DISEASE$ must be kept in mind for patients presenting with a renal mass and a history of long-term recurrent renal infections or @PHENOTYPICFEATURE$.	false
+7bb4c3e758f6f45ceca7621ecc0163fc59c138d8	In this study, we presented a case of urinary bladder @DISEASE$ associated with advanced obstructive uropathy and @PHENOTYPICFEATURE$.	false
+5657d83dfa0a58488a6c7dbb101de68b94d1aeb0	@DISEASE$ is a rare, chronic granulomatous abnormal host response toward infectious agents, presenting as a @PHENOTYPICFEATURE$-like lesion.	false
+62e0cd96bc7777f56d752ebbcfdc78866ad5393c	Cecum @DISEASE$: a @PHENOTYPICFEATURE$-like lesion with coexistent adenocarcinoma.	false
+50d7432e8a4bb808c5f0f6eeb02b5be0b73d4ab5	Lesions of @DISEASE$ can masquerade as @PHENOTYPICFEATURE$ masses leading to unwanted resections.	false
+c46df357450bc8c7079ed2f2f6f0750f452f0c06	@DISEASE$ of the kidney with @PHENOTYPICFEATURE$.	false
+a47088c7d8490cbf4b3044a754f610862def1804	A case of renal parenchymal @DISEASE$, with @PHENOTYPICFEATURE$ appearance is reported here.	false
+76eadeb452a9988065c8ad515b29d7d031bdbb73	The @PHENOTYPICFEATURE$ was a Dukes' stage B adenocarcinoma and occurred in association with @DISEASE$.	false
+f70dbf303ccdd9157d48e601bb1374ecd4b88ab7	MRKH syndrome may be isolated (type I @DISEASE$) or associated with renal, cardiac, and @PHENOTYPICFEATURE$, short stature, and auditory defects.	false
+e01f0f55a88b4daf6e4b475c5b96ed3a4761c2e9	@DISEASE$ may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and @PHENOTYPICFEATURE$, short stature, and auditory defects.	false
+29b2ac31748707598de7a2be18c9da036d3d5547	Mayer-Rokitansty-K?ster-Hauser (@DISEASE$) syndrome is a M?llerian anomaly that presents with varying degrees of uterovaginal aplasia and is secondarily associated with cervicothoracic, auditory and @PHENOTYPICFEATURE$.	false
+b4e17287249053d345175e0edbcaee414fd9789f	[Atipical form of @DISEASE$ with renal malformation and @PHENOTYPICFEATURE$ (MURCS association)].	false
+6fda91481756fcd5683279a76bc6586646c020a9	The genital tract anomaly of MA with and without renal or @PHENOTYPICFEATURE$ comprises @DISEASE$, which has not been reported with tetralogy of Fallot.	false
+e60bbbc1e8bf607297352becae95999273b210ce	Seventy-two percentage (83/115) of our patients showed isolated uterovaginal aplasia (@DISEASE$ type I); 32/115 (28%) had other abnormalities including kidney and cardiac defects, @PHENOTYPICFEATURE$, and hearing impairment.	false
+8db9d759d16a2c9e45d055362ae70149489c3947	Biallelic pathogenic variants in CA8 cause @DISEASE$ (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable @PHENOTYPICFEATURE$ and often quadrupedal gait.	false
+06facd3ed32d1a05c533b8b88325be2de1051f7a	Biallelic pathogenic variants in CA8 cause @DISEASE$ (CAMRQ3), a rare form of hereditary ataxia characterised by @PHENOTYPICFEATURE$, variable intellectual disability and often quadrupedal gait.	false
+1f2bf7c2b613aafc5c185c1ede8108c1e8576e86	On comparing the prevalence of these factors between patients and the general population, a significant association was found between hypertension, @PHENOTYPICFEATURE$, hyperuricemia, and @DISEASE$.	false
+3ee28ec207aeaa51b56caa2893f76b7352a1f21a	Aortic valve replacement was successfully performed in a patient with severe thrombocytopenia associated with @DISEASE$, interstitial @PHENOTYPICFEATURE$ and scleroderma.	false
+2d504fafefe37ebcc53cfbea390cc38a6e78f25a	Subjective cognitive complaint (SCC) is a criterion recommended by the Movement Disorder Society (@DISEASE$) task force for the diagnosis of mild @PHENOTYPICFEATURE$ (MCI).	false
+8e9cd2c3ea0daf98eb1d5bcc4aaea866ce6d8ff1	The aim of the present study was to provide empirical evidence regarding the classification accuracy of the International Parkinson and Movement Disorder Society (@DISEASE$) neuropsychological battery (NB) in the determination of Parkinson's disease mild @PHENOTYPICFEATURE$ (PD-MCI).	false
+e3ab9972c767939af744b642a341de380ce14328	Patients with AML/@DISEASE$ are highly symptomatic and experience @PHENOTYPICFEATURE$ and fatigue before the initiation of their treatment.	false
+6410588c5fb495a6a5b49274ff6c62153ec13a8d	@PHENOTYPICFEATURE$ in multiple system atrophy: a position statement by the Neuropsychology Task Force of the @DISEASE$ Multiple System Atrophy (MODIMSA) study group.	false
+af6c19d8a1cc52c79df615c5f1cf77cf97247721	An 82-year old, elderly woman who had been found to have myelodysplastic syndrome (@DISEASE$)-refractory anemia three years previously, complained of fever and @PHENOTYPICFEATURE$, and was hospitalized.	false
+1b16523234158032c3df0e46a9f6fe9a048f28c6	Myelodysplastic syndrome (@DISEASE$) is a group of @PHENOTYPICFEATURE$ disorders caused by ineffective hematopoiesis and characterized by bone marrow dysplasia and cytopenia.	false
+2f10a07145d293207f56f7f49412b1072bcf1583	The Movement Disorders Society (@DISEASE$) recently proposed guidelines for diagnosis of mild @PHENOTYPICFEATURE$ in Parkinson's disease (PD-MCI) that includes two assessment levels: abbreviated (Level I) and comprehensive (Level II).	false
+4123d178b74c1bb06911fe6fd52ecc2d38dc853b	These YACs are available upon request and should be helpful in mapping studies of disease loci, e.g., Charcot-Marie-Tooth disease, @DISEASE$, hereditary breast tumor, myotonic dystrophy, and @PHENOTYPICFEATURE$.	false
+ec047a4b96b24232e6f53c64767ffd35c5a3c023	We report a Japanese boy, who showed overlapping clinical features of @DISEASE$ (lissencephaly and facial dysmorphism) and vertebral defect, @PHENOTYPICFEATURE$, cardiac malformation and limb anomalies (VACTERL) association.	false
+8db7062f11a643f235ccbe36903953e4c421bd9e	Effect of subthalamic nucleus stimulation on severe striatal @PHENOTYPICFEATURE$ in @DISEASE$: a case report.	false
+c00a8583c247fc672e4438f7f555a6684f9241b0	Rheumatoid-like @PHENOTYPICFEATURE$ in @DISEASE$.	false
+7a8a5dc3cab949902ab920de475f2830bb83db4a	Patients with @DISEASE$ develop @PHENOTYPICFEATURE$.	false
+007a5b7321c9d84987115d5d9d09f64a2e25b105	Characterization of @PHENOTYPICFEATURE$ in @DISEASE$ using a wireless inertial sensor system.	false
+e710f38da78af469c3798c02e76394fa34220544	Tandem @PHENOTYPICFEATURE$ in @DISEASE$: Prevalence and implication as a predictor of fall risk.	false
+4e836f7780a17e11848255d1b0697cc17d305d77	The aim was to get some insight into possible mechanisms of action of this drug which is therapeutically applicable in treatment of @PHENOTYPICFEATURE$, @DISEASE$, and cerebral coma.	false
+5115dabcec4621d31181242730f4e4d5ce780e6c	The aim was to get some insight into possible mechanisms of action of this drug which is therapeutically applicable in treatment of spasticity, @DISEASE$, and cerebral @PHENOTYPICFEATURE$.	false
+52c3aa3efbf99dee163874547386289820daf53d	Several reports have suggested that anticholinergics have some associations with @PHENOTYPICFEATURE$ in @DISEASE$ (PD).	false
+1c22c6fe56d920573daf74064c02fc76a33bf9b9	Gait disorder in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3f2df92c2b468047d6476b2c31df12b0f72c9aaa	@DISEASE$ (PD) patients regularly exhibit @PHENOTYPICFEATURE$ patterns.	false
+31c86da1af8d1562798b41d541bda0f228e0bc82	Men and women, aged 22 to 101?years, without cognitive impairment, dementia, stroke, @DISEASE$, resting tremor, @PHENOTYPICFEATURE$, or abnormal coordination (N = 507).	false
+725c6b2e026d0c912119b3ad8c7247115925f727	We analyzed 33 cases of typical Schmid @DISEASE$ from the International @PHENOTYPICFEATURE$ Registry, looking specifically for any radiographic evidence of spinal involvement.	false
+31cd0dcebeb5af103d97da93e55b43190501b050	There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial @PHENOTYPICFEATURE$, FJN) or by adult onset dominant inheritance (medullary cystic disease, @DISEASE$) and share similar clinico-pathological presentation to the extent that they are usually grouped together under the term FJN/MCD complex.	false
+bb84d989619ffc3384b1036722fedf2be9338c8f	There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial @PHENOTYPICFEATURE$, FJN) or by adult onset dominant inheritance (medullary cystic disease, MCD) and share similar clinico-pathological presentation to the extent that they are usually grouped together under the term FJN/@DISEASE$ complex.	false
+91f8615d9be6e6099fdc337a6f263643eb9c578c	The prevalence of systemic mast cell disease (@DISEASE$) is unknown, and the diagnosis is often elusive because serum and urine markers may become positive only after one of the self-limited, recurrent @PHENOTYPICFEATURE$ episodes.	false
+6966bb2078aed480c50b52d6693fabff6b9ea3f0	@PHENOTYPICFEATURE$ and Ki67 immunopositivity were less prominent in the MCD+BET group compared with the @DISEASE$ group.	false
+ac41989c2ded78f771a5d3aa1e1a7e9098bba17c	We reviewed the radiographs of Schmid @DISEASE$ patients at the International @PHENOTYPICFEATURE$ Registry in Los Angeles for evidence of hand involvement.	false
+ce9ad28c54ff9d3e74bfdd7675ce3fc19394e0bd	@PHENOTYPICFEATURE$ response was quantified by metastatic control (@DISEASE$(37%)).	false
+aa9047327145589ef26d512d1c96616db23212a1	Moreover, immunoactivation in low @DISEASE$ @PHENOTYPICFEATURE$ may contributed to improved prognosis.	false
+a5e68a41e11de7dea8d9d0f4b34638dda95b87b7	Diagnosis of medullary cystic disease (@DISEASE$) was made based on typical ultrasound appearance, sodium wasting and acidosis out of the proportion to the degree of @PHENOTYPICFEATURE$.	false
+4f445ec8582ddc623f0007bb0b9b5369a88bae52	Medullary cystic disease (@DISEASE$) is an uncommon renal disease with adult onset and autosomal inheritance, eventually progressing to terminal @PHENOTYPICFEATURE$.	false
+c4801eb923cbf65b5ba73ed910f27cf46471f05e	@PHENOTYPICFEATURE$ and expression of genes involved in fatty acid metabolism were attenuated in miR-155 KO mice after @DISEASE$ feeding.	false
+3bb770a809b87d6a380c9979e427f478440d13e9	Echocardiography revealed tricuspid insufficiency, moderate left @PHENOTYPICFEATURE$, @DISEASE$, a superior caval vein draining into the coronary sinus and, surprisingly, LVNC of the apex and the lateral wall.	false
+ec05662252fd786fc90c0e137193e568dd55c1c7	Entirely subcutaneous implantable defibrillator: safest option in a young girl with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+0a1ac2a39edd769750779a2914cbcf9efe3cedbf	The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate @PHENOTYPICFEATURE$ and @DISEASE$ with secondary cardiac failure.	false
+72f5853b7d2b4cb681707532e36b56ea6faf29a0	Our report reinforces that Raine syndrome is compatible with life, and that mild @PHENOTYPICFEATURE$ and @DISEASE$ are key features of the attenuated form.	false
+fe50a054218891d368bb406c3da7d840a004604d	A patient with Turner XO/XX mosaicism is presented who also exhibits alopecia totalis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+2f8c808dfe1261dc6128cfbcabb3611914559713	Further researches are necessary to understand the linkage between bone loss and enamel structure anomalies in FHHNC and to discover the relationships between nefrocalcinosis, hypomagnesemia, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+33134b613c9df6db1bf07bb307175512d27622c7	Alopecia totalis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d1275430314bcfc943c7de86726804b28f7671ea	The following neuropsychiatric disorders have been briefly described: alcohol withdrawal syndrome, delirium tremens, alcohol hallucinosis, Wernicke-Korsakow syndrome, seizures, tremor, @DISEASE$, central pontine myelinolysis, alcoholic amblyopia, alcoholic cerebellar degeneration @PHENOTYPICFEATURE$, alterations of personality in chronic alcoholics, alcoholic polyneuropathy.	false
+9b484ef2437f3d93c249d566e4f988ab684ec791	The inflammation and fibrosis can also lead to other complications including a chronic @PHENOTYPICFEATURE$ syndrome, @DISEASE$, and pancretic cancer.	false
+7d65ed583bc20787bcab556742fd9a0afe1bc794	Clinically, the diseased individuals have @DISEASE$ associated with clinodactyly and @PHENOTYPICFEATURE$.	false
+68bb25d30253cdb3374a5ac06add433c097a9995	This is the second report providing evidence of association of @PHENOTYPICFEATURE$ with @DISEASE$ caused by frameshift variant in the gene BHLHA9.	false
+b6e4b1cb728cf1437784f800a0daadb7aa0a2081	Some had anterior segment abnormalities such as corneal opacities (0.5%) and allergic conjunctivitis (3.4%) while others had posterior segment abnormalities like @PHENOTYPICFEATURE$ (0.3%), Waardenburg syndrome (0.6%) and @DISEASE$ (0.6%).	false
+b159214352a57143526b34e03107ccca492563b7	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and @DISEASE$.	false
+0ec11c2d0c83723810f4ac9d578e3afc43efd06f	Association of sensorineural deafness and progressive retinitis pigmentosa with and without a @PHENOTYPICFEATURE$ is the hallmark of @DISEASE$ and involves at least 12 loci among three different clinical subtypes.	false
+0baee5dbeb2137547beb48ea725fe8934aa11132	The charts of three patients (@DISEASE$, bilateral @PHENOTYPICFEATURE$, and bilateral retinal vein occlusion) with acute Charles Bonnet syndrome in the setting of severe anemia were reviewed.	false
+b7d47cb810fbb882439de024d699ee87b472cd6a	Acute @PHENOTYPICFEATURE$ caused by epoprostenol infusion in a child with @DISEASE$ and pulmonary hypertension.	false
+6e78e9ed530cb5a8ae67c9e69852370e6f219ba6	Congenital lung malformations are a heterogeneous group of anomalies that involve the lungs and tracheobronchial tree (congenital airway pulmonary malformation, bronchial atresia, bronchogenic cyst, congenital lobar overinflation, pulmonary cyst, @PHENOTYPICFEATURE$, pulmonary isomerism and azygous lobe), vascular abnormalities (arteriovenous malformations, anomalous pulmonary venous return, pulmonary artery sling, interrupted pulmonary artery, pulmonary varix, pulmonary vein stenosis and pulmonary lymphangiectasia), or frequently both entities (pulmonary sequestration, pulmonary maldevelopment and @DISEASE$).	false
+019995cee546301ef95dd280a1ae7a54a230e4f5	We present an infant who had an operation for @DISEASE$ and abnormal drainage of the right pulmonary veins into the inferior vena cava who developed @PHENOTYPICFEATURE$ while receiving a prostacyclin infusion.	false
+790c7e0868671c9ffb099a46913c87936d43c18d	Two of the patients with @DISEASE$ developed marked @PHENOTYPICFEATURE$ during active disease.	false
+7d2640467d483c07b35876d41c4de57acc4a3c10	@DISEASE$ causing cerebral infarction and @PHENOTYPICFEATURE$: a case report.	false
+c1c8231e05e2891868248ba2233f91439346ca4b	We describe a patient with @DISEASE$ who developed Staphylococcus aureus @PHENOTYPICFEATURE$ following dental work.	false
+d47e83f03f25ff3d82dba83e37c3614076ca638f	@DISEASE$ flare up as acute spinal subarachnoid hemorrhage with bilateral lower limb @PHENOTYPICFEATURE$.	false
+ac3223d3b5d7518a3a40b710ec34f424a409f3dc	Other causes were encephalitis, Sydenham's chorea, @DISEASE$, @PHENOTYPICFEATURE$, non-ketotic hyperglycaemia, and tuberous sclerosis.	false
+7d0d88b450193920e2e90e58c8a4f62084dff409	@PHENOTYPICFEATURE$ distal renal tubular acidosis with hyporeninemic hypoaldosteronism in a patient with @DISEASE$--a case report.	false
+e62a902d9d61353ba1162b27c37b7c329df8908f	Two patients with @DISEASE$ (SLE) and @PHENOTYPICFEATURE$ were studied.	false
+fcc898fc5661dcac26c7bec701a5e129c0167525	[A case of @DISEASE$ with @PHENOTYPICFEATURE$ and intraventricular bleeding--report of an autopsy].	false
+7c42f412e459a7a55240a7fdb68cd41fefa5f6bc	[A case of @DISEASE$ demonstrating @PHENOTYPICFEATURE$, coronary stenosis and selective IgA deficiency].	false
+abceb16fe0d94f29a36feff79131f670128d98ac	A case of generalized hair follicle @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+808ed760b625eda42530ac5a26ab090be44f3604	In parallel, among 85 consecutive triple procedures (PK + @PHENOTYPICFEATURE$ + intraocular lens [IOL]) performed over 7 years, in which TB was used, only patients with LCD (n = 18 eyes in 17 patients) or presumed @DISEASE$ due to chronic inflammation (n = 1), presented an isolated intense blue ring of the graft-host interface.	false
+7c10931bf36d64bf8c9e5ce2a83593650a8b6685	Among these three entities, Muckle-Wells syndrome is described as an intermediate phenotype associated with a progressive @PHENOTYPICFEATURE$ and @DISEASE$.	false
+610a500d354b2445ac864f426dd461472c93af4e	Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+678ec4d6f20a1b58c46dd5cb40e958d2306ddef9	Muckle-Wells syndrome (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, @PHENOTYPICFEATURE$, and the possible development of systemic @DISEASE$.	false
+08a97fdd46822759e3bf0813cedc6c34a9ae1ec9	Muckle-Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, @PHENOTYPICFEATURE$, general signs of inflammation, and @DISEASE$ (AA type).	false
+1c443d31ee44752b459fee34fb8e4dac3bcd41d2	We describe a 19-year-old male patient with a previous diagnosis of familial Mediterranean fever (FMF), nephrotic syndrome and @DISEASE$, who presented with @PHENOTYPICFEATURE$ and leukopenia.	false
+7345c99246dd76e147b100a3b988e9f4633a2ca9	Muckle-Wells syndrome is characterized by recurrent fever and urticarial rash, progressive @PHENOTYPICFEATURE$ and the development of @DISEASE$, but it is not considered the most severe disease of this group.	false
+742b9ceb0bb983783763a75d0abe9645752413a9	It is a subset of auto-inflammatory diseases characterised by recurrent inflammatory crises and is associated with chronic recurrent urticaria, @PHENOTYPICFEATURE$, periodic arthritis and @DISEASE$.	false
+8efd0b097be7d386f390e4c1be7acefca0b6186e	Seen among the long-term problems associated with JCA are functional loss, deformities and the destruction of afflicted joints, a @PHENOTYPICFEATURE$ which may extend as far as blindness as a consequence of rheumatic iridocyclitis, irreversible organ damage caused by @DISEASE$ as well as growth failure.	false
+34422fe076c6d470fcf29ab1d92f396cfd4c974c	In view of its advantage in suppressing acute-phase reactions and as the only approved inhibitor of IL-6 signaling, TCZ might be particularly effective for RA patients with a high systemic inflammatory response, @PHENOTYPICFEATURE$, @DISEASE$ and other diseases mediated by IL-6.	false
+a566d9fe0db174f35b79aec1e3fe8f53aa8f9dbd	Improvement, with a reduction of involuntary movements exceeding 25%, occurred in two of four patients with Gilles de la @DISEASE$, and in two of three patients with postanoxic intention myoclonus, while no consistent beneficial effects were registered in ten patients with Huntington's chorea, postanoxic choreoathetosis, torsion dystonia, tardive dyskinesia, action tremor, essential @PHENOTYPICFEATURE$, or oro-branchio-respiratory myoclonus.	false
+afabd5cb38b6601c8d5980e3fd01c0c98f4fca2b	These conditions include migraine, Korsakoff's psychosis, @DISEASE$, withdrawal states, tardive dyskinesia, essential tremor, neuroleptic-induced akathisia, @PHENOTYPICFEATURE$, idiopathic orthostatic hypotension, paroxysmal localised hyperhydrosis, diabetic neuropathy and stiff-man syndrome.	false
+96377ccbbe51e6d96facda672808f5015a91eddb	Disordered central nervous system development may produce evidence of cortical neuronal migration abnormalities in autism, smaller cortical structures in Down syndrome, frontal lobe deficits and larger basal ganglia in schizophrenia, hypoplastic basal ganglia in @DISEASE$, aberrancies of the planum temporale in dyslexia, and @PHENOTYPICFEATURE$ structures in numerous developmental disorders.	false
+75e7d349d8573a803d211658b258cfec46fb5c8a	We conducted a search of the PubMed database for research and review articles on transcranial magnetic stimulation and its diagnostic utility in movement disorders (specifically Parkinson's disease and atypical @PHENOTYPICFEATURE$, dystonia, @DISEASE$ and other chronic tic disorders, Huntington's disease, and essential tremor).	false
+63ace6bb481c3166e13c88a01ee87f299582a962	The use of metoclopramide in the treatment of neurogenic bladder, orthostatic hypotension, @PHENOTYPICFEATURE$-associated gastroparesis, nonprolactinemic amenorrhea, failure to thrive, @DISEASE$, anorexia nervosa, and hiccups, as well as an adjunct to migraine therapy, has been investigated, but sufficient evidence has not been accumulated to advocate the use of metoclopramide in these disorders.	false
+fd9a31fc2a4a483bd902acc1640126d8da5fbb22	As @PHENOTYPICFEATURE$ necrosis factor (TNF) is known to play a seminal role in coordinating the humoral immune response, TNF gene polymorphisms have been proposed as genetic risk factors both in obsessive-compulsive disorder (OCD) and @DISEASE$ (TS).	false
+f71062bf786937e8f062a56a7f140d850a063fb3	To correlate behaviour manifestations with @PHENOTYPICFEATURE$ location in three children who had Gilles de la @DISEASE$ (GTS), obsessive-compulsive disorder (OCD), and primary cerebral malignancies.	false
+a098e986265c3d99a272cc3ba467bca8b2fe9937	Association of the @PHENOTYPICFEATURE$ necrosis factor -308 A/G promoter polymorphism with @DISEASE$.	false
+afeca4f8f4a77b32189f266c5b5ea0cf9569a721	Deregulation of the dopaminergic system has been linked with Parkinson's disease, @DISEASE$, schizophrenia, attention deficit hyperactive disorder (ADHD) and generation of pituitary @PHENOTYPICFEATURE$.	false
+9596b57337b6c79c806c3baaa401888be208344f	Children with @DISEASE$ without @PHENOTYPICFEATURE$ were more likely to be disadvantaged and to have had contact with child protection services than children with ASD.	false
+50bf794506338242add37ea1ce782d6c539c797d	With the exception of children who failed the Battelle test [classified as Global Developmental Delay (@DISEASE$)], final diagnoses were classified according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition: GDD (60 children), @PHENOTYPICFEATURE$ (11), communication disorders (10), motor disorders (6, of whom 2 were with cerebral palsy), attention deficit disorders (5), attachment disorders (2), normal children (3).	false
+0996a9f0b2448f102f95afffffda8a11d8e5d3c6	Mild hyperphenylalaninemia and @DISEASE$ should warrant targeted DNAJC12 genetic testing for the early diagnosis of DNAJC12-associated hyperphenylalaninemia, @PHENOTYPICFEATURE$, and intellectual disability.	false
+5feec5712cc190756d0df59a8639cbb8b49ecd9c	We believe this new mouse model will shed more light on the development of @PHENOTYPICFEATURE$ in @DISEASE$ on a cellular and molecular level.	false
+a394fd844292fb052fc9ca1f6132b60b05f127a4	Review of our patient and others reported in the literature reveals an emerging phenotype of @DISEASE$/ID with moderate to severe @PHENOTYPICFEATURE$ where expressive speech is most severely affected.	false
+4ef48fbec45eb9116ac5ff9b951941c2d9d4a98b	Autosomal recessive @PHENOTYPICFEATURE$ with skeletal dysplasia and facial appearance of @DISEASE$.	false
+ec32917c625bafdc177198f4bab3efc207627b5f	This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of @DISEASE$, @PHENOTYPICFEATURE$, and skeletal dysplasia.	false
+848d224231d4ba370d42ede5d4d926a078e33a4b	The frequency of amyloid deposits in solid, adenoid, and cystic histologic subtypes was slightly higher than overall, whereas in partial sclerosing and @DISEASE$-like @PHENOTYPICFEATURE$ the frequency was much lower.	false
+f170f13c809f2cb5bf29f01cfbc3ab5827105d28	However, our experience indicates that @DISEASE$-type basal-cell carcinomas can be cured with radiation therapy; therefore, x-rays have a place in the armamentarium of therapeutic modalities for this @PHENOTYPICFEATURE$ if surgery is not feasible or if it is refused by the patient.	false
+beed232e5558549fa03a8da358667d4bf6265600	The concerned @PHENOTYPICFEATURE$ are mostly of the primordial type (90 p. 100); such a lymphadenoid reaction was never observed around @DISEASE$-like basal cell carcinomas and seldom around superficial spreading basaliomas of the trunk.	false
+95ecd23ceaec1a06139b6b11b1b78c9f33d4e172	These include diseases of the nervous system (e.g., generalized epilepsy with @PHENOTYPICFEATURE$ plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and @DISEASE$), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+e0293dfe29c9b14124ad3228112a812fd74ee9d8	Human glutamate dehydrogenase (GDH) plays an important role in neurological diseases, @PHENOTYPICFEATURE$ metabolism, and @DISEASE$ (HHS).	false
+1432a1f065d4e42d663598b2ad2d15b0d0f70a0f	A girl with intractable absence seizures and facial @PHENOTYPICFEATURE$ at age 7 years was eventually diagnosed with @DISEASE$ because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test.	false
+4706437f91f681deb3c08876ca3f71669046f640	To study the linear growth characteristics of children with @DISEASE$ (CL), cleft palate (CP), or both (CLP) and to determine whether this population is at risk for @PHENOTYPICFEATURE$.	false
+3edc3e2f6cc6ced796d9e2c6ed4df5af46abe523	Spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes.	false
+37a0a40f210c67f21458c5b1bccdd3dfed5b80cc	Spinocerebellar @PHENOTYPICFEATURE$ (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse @DISEASE$ subtypes.	false
+0df69e7f873b5abcca07eb7c36d4c83824de3b4c	Spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) is a group of heterogeneous disorders.	false
+dcc339698177ae33425d40bfa9ca44d5ea73af56	Spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) leads to abnormal ocular motility and alignment.	false
+f15f0be6e4f83271561e9cc461563baf7da1a100	Sixty-five familial spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) patients and 15 sporadic SCA patients were genetically examined.	false
+01e97bc58a5b95a9a0e579829a66a982c838c235	Sixty-five familial spinocerebellar @PHENOTYPICFEATURE$ (SCA) patients and 15 sporadic @DISEASE$ patients were genetically examined.	false
+01e3dddef1f94574a5065b7c1c14380d661d79b2	The results suggest that SARA is a reliable and valid measure of ataxia in non-@DISEASE$ @PHENOTYPICFEATURE$ patients.	false
+30610bbc924da74d8bb5253c3cb68f2a644315e0	The results suggest that SARA is a reliable and valid measure of @PHENOTYPICFEATURE$ in non-@DISEASE$ ataxia patients.	false
+4aac3be87d87b33693fd2b0c1aea2c7770ebc435	Other causes of @PHENOTYPICFEATURE$ in patients with @DISEASE$ mutations.	false
+9549a84576ec64866fb91c97b231e19d275edaaa	Hereditary spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$) is a devastating, incurable disease.	false
+84bd3830d14152406ef179ab2954229a18bbf066	Clinically, both show signs of @DISEASE$, although the daughter is the most affected with early onset @PHENOTYPICFEATURE$, microcephaly, and severe mental retardation.	false
+8c8f1e131c5eac8c2d83c948ff3fcbdfaf9ff437	Clinically, both show signs of @DISEASE$, although the daughter is the most affected with early onset cerebellar ataxia, microcephaly, and @PHENOTYPICFEATURE$.	false
+d36f23bdf5a9bb03ce4ebb1b6a33bae633afba52	Linkage studies in spinocerebellar @PHENOTYPICFEATURE$ (@DISEASE$).	false
+4c216bcc54f784ec7aed1d1d1ebb4da6adbed8ec	All @DISEASE$ patients should be screened for visual @PHENOTYPICFEATURE$ and referred for neuro-ophthalmic assessment promptly.	false
+e9d3c0f99b4f80ccb3afff18070a000d99b07a5d	Despite their propensity to lead to significant @PHENOTYPICFEATURE$, there have been very few studies of the management of patients with @DISEASE$ who are pregnant or plan a pregnancy during the course of therapy.	false
+7c9296bf7d538c7c7e34489ab50a3955e495f6ae	Oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$-like psychosis.	false
+36a5bbe07a7a468d35664752409acf5e3ef7178d	@PHENOTYPICFEATURE$ and Suicide Risk in an 8-Year Longitudinal Study of @DISEASE$-Spectrum Disorders.	false
+12db79060d70ab914a96e79331dc4a2444bd3f2f	@DISEASE$ remains a priority condition in mental health policy and service development because of its early @PHENOTYPICFEATURE$, severity and consequences for affected individuals and households.	false
+0b3f7f00a47e0a0fa2b56bb68cee11af34504eb3	@PHENOTYPICFEATURE$ are frequent in patients with @DISEASE$ or bipolar disorder.	false
+26be2d85f8f33ec6e155335182199c31b72a2a16	@DISEASE$ is associated with marked @PHENOTYPICFEATURE$ and memory impairment.	false
+e45e028474c24fd5ab7f76a7ecfc00541f802a96	Verbal and visual-spatial @PHENOTYPICFEATURE$ in youth at familial risk for @DISEASE$ or affective psychosis: a pilot study.	false
+ce045a48a59c96b66a2512a927dbd50bf98a9bd6	@DISEASE$ patients commonly have @PHENOTYPICFEATURE$.	false
+f8595ae755c9a8ad72e70e864746a8c8a0c2a592	@PHENOTYPICFEATURE$ are common in patients with @DISEASE$-spectrum disorders.	false
+ead2c8cbf1ec824b68de60fcc6b6f0267b377f42	The results provide indications for differential morphological @PHENOTYPICFEATURE$ in patients with @DISEASE$ and alcohol dependence.	false
+f317f1031e0f7d3689de2501732ef2b07e170fc1	This chromosomal region has also been proposed to include a susceptibility locus for @DISEASE$ and @PHENOTYPICFEATURE$.	false
+9c8d1eed579002470e6795f6da45c92bf9345ab5	@DISEASE$ comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and @PHENOTYPICFEATURE$.	false
+86b55ac9c8c570db9e9e1effcee26f360a34e656	In a newborn, the presence of an abdominal @PHENOTYPICFEATURE$ due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of @DISEASE$.	false
+632258db96b0838a744c438c133e375eac90a263	The existence in a new-born child of post-axial polydactyly, associated with an abdominal @PHENOTYPICFEATURE$ due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the @DISEASE$.	false
+d8b4f23de7102ab972930bd221a9b258133904a8	In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); @DISEASE$; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; @PHENOTYPICFEATURE$/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.	false
+e6fcc8b62151c9578246862ef827ad8be7640f8a	Classic @DISEASE$ is characterized by a facial nevus and @PHENOTYPICFEATURE$ lesion in the brain.	false
+43be240429b64a5e481337078ee3c0059d1d2d45	Two children with medically unresponsive @PHENOTYPICFEATURE$ activity secondary to the @DISEASE$ have been surgically treated by dividing their corpus callosum.	false
+79ca8fd34147ab4fe6caff07dfc0a965d4b73857	Developmental abnormalities consisted of focal cortical dysplasia (5), heterotopia (2), @PHENOTYPICFEATURE$ (3), cortical duplication (1), polymicrogyria (1), @DISEASE$ (1), and tuberous sclerosis (1).	false
+3e78ad926a19ba81824838cc8096f69056943bad	To clarify the cortical evoked responses in the primary somatosensory cortex of the rat under states of waking, slow-wave sleep (@DISEASE$), paradoxical sleep (PS), and spike-wave discharges (SWDs), which are associated with @PHENOTYPICFEATURE$.	false
+5e23f0fa4eb522850a3e8402fe7ea6bc93a5e4d6	However, in some syndromes, seizures are more frequent in slow wave sleep (@DISEASE$) [partial motor or @PHENOTYPICFEATURE$ in benign epilepsy with centro-temporal spikes (BECTS), frontal seizures in idiopathic familial or not familial frontal lobe epilepsy and generalized tonic seizure in secondary generalized epilepsy are increased by SWS].	false
+bd58d9f233d0a0a6a72edeac35197b6e4f4e627a	Bilateral dysfunction observed in @DISEASE$ may result in an increased capability of focal discharges to generate synchronous epileptiform activity leading to an increased incidence of @PHENOTYPICFEATURE$, most probably via a mechanism of secondary bilateral synchrony.	false
+56078035f48f083b03e75de89d529b98f18a9f6e	Partial and @PHENOTYPICFEATURE$ triggered an increase in the latency of slow wave sleep (@DISEASE$) and rapid eye movement (REM) sleep.	false
+bb6388ff1dba0ccc1c286509914dcf67b7b6db8c	Logistic regression was performed to determine the association between AF and @DISEASE$ time (low vs. high) adjusting for age, gender, body mass index, and @PHENOTYPICFEATURE$.	false
+381b34720d7b93a70c7424d2d4c277380672ff99	A case of 55-year-old man with first-ever @PHENOTYPICFEATURE$ diagnosed with @DISEASE$ type III by characteristic MRI findings.	false
+06982b3025c599db0982954de7bee524450e65fa	During the first period of light the partial and @PHENOTYPICFEATURE$ triggered an increase in wakefulness and a reduction in the phases of @DISEASE$ and REM sleep.	false
+ba2c7c63701d9321826a8f2253b54731c2daa7b4	In the perinatal period, transient neonatal @PHENOTYPICFEATURE$ and @DISEASE$, due to maternal antibodies, need to be considered.	false
+1848a912dbb921b5e7b0ff6824e17626a51e70fd	Quality-@DISEASE$ cancer surgery for Wilms @PHENOTYPICFEATURE$: What is the role of the clinical trials groups?	false
+be5a81e90eee8f286f7e28d4a25c36fc98bac1fd	@DISEASE$ is a rare X-linked syndrome composed of numerous morphologic facial, digital, and @PHENOTYPICFEATURE$.	false
+3306d79df2bcf9349ac8d77444c6c00e73619d93	Two responding patients with negative @DISEASE$ expression before therapy had rebiopsy after @PHENOTYPICFEATURE$ progression and the ASS expression became positive.	false
+036a450c41f780990b6deb5fa9f9c533283bedde	Clinical benefit rate (CBR) and longer time to progression were associated with negative expression of @PHENOTYPICFEATURE$ @DISEASE$.	false
+f74d378b7c1eb46b0479a2b31b114c8dfd5cb83e	High @PHENOTYPICFEATURE$ @DISEASE$ status is an independent variable predicting a poor disease-free survival in OSCC patients.	false
+a8aa057c253902d295af90dae27de2e4f3ecf67f	Aarskog-Scott syndrome (@DISEASE$) is an X-linked disorder characterized by facial, skeletal and @PHENOTYPICFEATURE$, including penoscrotal transposition in males.	false
+3dc861460f56cc59f93c60ebfe8379c11fd70b0a	In multivariable analysis, high @PHENOTYPICFEATURE$ @DISEASE$ level independently predicted an unfavorable disease-free survival in OSCC patients.	false
+5b382d43e4657e9cc2177fc5db5fa6e0323587b4	Aarskog-Scott syndrome (@DISEASE$) is a rare disorder with characteristic facial, skeletal, and @PHENOTYPICFEATURE$.	false
+9b5fde76eee5a190ae5257407804353f0302348a	Twenty-seven of thirty-eight patients treated had melanoma @PHENOTYPICFEATURE$ assessable for @DISEASE$ staining before treatment.	false
+da4ec6fcfce090733c3568c3cf778b475c549465	The absence of staining in the @PHENOTYPICFEATURE$ was recorded as @DISEASE$ negative.	false
+177db537b78928296f1a3c26537581e47a1f5962	@DISEASE$ is a congenital @PHENOTYPICFEATURE$ disorder with an incidence of approximately 1 in 14,000.	false
+5a706ba96defd57a012b5e2fd27441b1da3c05b7	@DISEASE$: a rare @PHENOTYPICFEATURE$ disorder.	false
+b7e10b615f191fda33a658c0ad851caececc0ac9	@DISEASE$ is an @PHENOTYPICFEATURE$ syndrome of poorly understood aetiology.	false
+7aab77723e55797871c4668500040d4cbd59f89b	NSD1 deletions are detectable in @PHENOTYPICFEATURE$ disorders (@DISEASE$ and Beckwith-Wiedemann syndrome), whereas NSD1 duplications are associated with growth retardation.	false
+5634ad80651a37e291763c65a872513a708e708c	NSD1 deletions are detectable in overgrowth disorders (@DISEASE$ and Beckwith-Wiedemann syndrome), whereas NSD1 duplications are associated with @PHENOTYPICFEATURE$.	false
+a25a3100909ef0d8f02ac2ffaf5aea7801181af9	@DISEASE$ is characterized by peculiar facies, prenatal and postnatal @PHENOTYPICFEATURE$, and developmental delay.	false
+0752fa1b7e74569366fa69bf5995c1d4e23abc90	@DISEASE$ is a congenital @PHENOTYPICFEATURE$ disorder, associated with intellectual disability.	false
+938d509dfbb82db38f2b4f0429909188c3424b1f	Twenty-seven children with Sotos syndrome were compared with 20 children with @PHENOTYPICFEATURE$, intellectual disability, and facies not characteristic of @DISEASE$.	false
+9de91014008679e35e38b80aa6e675184efbc06c	Twenty-seven children with @DISEASE$ were compared with 20 children with @PHENOTYPICFEATURE$, intellectual disability, and facies not characteristic of Sotos syndrome.	false
+dae5558d92d095523e77985ac0a097e3acc4edb6	@DISEASE$ is characterized by somatic @PHENOTYPICFEATURE$, i.e., macrocephaly and tall stature.	false
+3e1214aec6a83716858e0b6f98bbd7fd550039c9	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, macrocephaly, developmental delay and advanced osseous maturation.	false
+eedf195f3c2fe5e71a94377d59ada5c939ea9268	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, a typical facial appearance, and learning difficulties.	false
+ee12a144fa671f086aff0a5c433062411a74cd98	Hutchinson-Gilford @DISEASE$ is a @PHENOTYPICFEATURE$.	false
+4c4cb06a65c608765bd58985a93dbaa456aa8853	Abnormal expression of LMNA is ubiquitous in human @PHENOTYPICFEATURE$, and its mutation leads to various forms of laminopathies, including Emery-Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy (DCM), and Hutchinson-Gliford @DISEASE$ syndrome (HGPS).	false
+468946a07a164f791f85d9e074c7e8abf34eccc2	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford @DISEASE$ syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+8b05c58e13912f0a0aa04106623349000e6a978d	We re-sequenced all exons, intron-exon boundaries and selected conserved non-coding sequences of candidate genes involved in aging-related processes, including dietary restriction (PPARG, PPARGC1A, SIRT1, SIRT3, UCP2, UCP3), metabolism (IGF1R, APOB, SCD), autophagy (BECN1, FRAP1), stem cell activation (NOTCH1, DLL1), @PHENOTYPICFEATURE$ suppression (TP53, CDKN2A, ING1), DNA methylation (TRDMT1, DNMT3A, DNMT3B) @DISEASE$ syndromes (LMNA, ZMPSTE24, KL) and stress response (CRYAB, HSPB2).	false
+468946a07a164f791f85d9e074c7e8abf34eccc2	These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford @DISEASE$ syndrome (HGS), Greenberg @PHENOTYPICFEATURE$, and Pelger-Huet anomaly (PHA).	false
+a1c4c1b59fb565efaec42e258156c8c23d94da2f	Protein-losing gastroenteropathy with facial anomaly and @PHENOTYPICFEATURE$: a mild case of @DISEASE$.	false
+871faaae434ed962468424d8aed643e67915922d	Fragile X syndrome (@DISEASE$) is often characterized by @PHENOTYPICFEATURE$.	false
+6f82a9a3c8a0077ccbf7a3a73cc05952e1695b2d	@DISEASE$ (FXS) is often characterized by @PHENOTYPICFEATURE$.	false
+9d5f4553b99769791fdf8b046fd91c57e3ad02ba	: Fragile X syndrome (@DISEASE$), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X @PHENOTYPICFEATURE$ protein (FMRP).	false
+d8430023d6aa0d2f101007323f24244a70dab741	: Fragile X syndrome (@DISEASE$), the most common form of inherited cognitive @PHENOTYPICFEATURE$, is caused by a deficiency of the fragile X mental retardation protein (FMRP).	false
+da3bdade562ff4579e6bc24d612adc99f1ebb88c	: @DISEASE$ (FXS), the most common form of inherited cognitive @PHENOTYPICFEATURE$, is caused by a deficiency of the fragile X mental retardation protein (FMRP).	false
+423d7f3677380963e80477b8753345bcf189ca20	: @DISEASE$ (FXS), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X @PHENOTYPICFEATURE$ protein (FMRP).	false
+7acd5551bc465083b055fef45dfeb21d7ea1f062	@DISEASE$ (FXS) is the leading cause of inherited intellectual and developmental @PHENOTYPICFEATURE$.	false
+6e10dd16617f14f18ee1b0f0ee288c1150433b42	Fragile X syndrome (@DISEASE$) is the leading cause of inherited intellectual and developmental @PHENOTYPICFEATURE$.	false
+9c48c7701b1460b122164b455c15e2d8cb0120ea	@DISEASE$ (FXS) is a leading cause of @PHENOTYPICFEATURE$.	false
+73b553442d44aa901c9c58156619246de07ee236	Fragile X syndrome (@DISEASE$) is a leading cause of @PHENOTYPICFEATURE$.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+e5a786517cd5b15e166ac7484e6210fdff62f369	Is @DISEASE$ a pervasive developmental @PHENOTYPICFEATURE$?	false
+103dbe3bdda52a884d7c12f7ff69bd2231271af3	Molecular screening for @DISEASE$ among Indonesian children with developmental @PHENOTYPICFEATURE$.	false
+049787e84f751c0d227f75b5628ab0546f6977c2	@DISEASE$ is the most important X-linked etiology of @PHENOTYPICFEATURE$ and developmental disability currently known.	false
+aea89f14838b172ebd39b816cdfa92f80e474856	@DISEASE$ is the most important X-linked etiology of mental retardation and developmental @PHENOTYPICFEATURE$ currently known.	false
+e8cd4de69d948107e133c08c69332d3797dc99df	[@DISEASE$ and @PHENOTYPICFEATURE$].	false
+0b1eeb811e9b385aafaa589e5e742d7e823c5afc	Molecular analysis of fragile X syndrome (@DISEASE$) among Malaysian patients with developmental @PHENOTYPICFEATURE$.	false
+5a78351497842e1f8b72ad518c7ad7cb761f5390	Molecular analysis of @DISEASE$ (FXS) among Malaysian patients with developmental @PHENOTYPICFEATURE$.	false
+5ab3f051481727f26b941cf090362cb103488d12	Gastroesophageal reflux, pulmonary hypertension, @PHENOTYPICFEATURE$, combined with emphysema, @DISEASE$ and cardiovascular involvement are the main comorbidities associated with IPF.	false
+8548ac17d865d57d922d90fbd92c6e648d344c82	The @PHENOTYPICFEATURE$-@DISEASE$ association remains controversial.	false
+08f29d12adf39bbde12d64161c064ed414e4920b	DEALE-ing with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1c764cf9691f853b9b8fb96e0db5306a0f8f3df9	Cardiac @PHENOTYPICFEATURE$ in patients with superior vena cava syndrome due to compression by @DISEASE$.	false
+089b0bcc722236d247a961423a75acfb1f070832	We recommend that routine small biopsies of @DISEASE$ without classic morphology should be subjected to a minimum immunohistochemical panel to differentiate adenocarcinoma from @PHENOTYPICFEATURE$.	false
+6958af6aaf5c44f5d7f2f66111d54c99e5a122cc	One died of @DISEASE$; 43 presented with spontaneous episodes of @PHENOTYPICFEATURE$, 4 were able to discontinue treatment at the end of the follow-up period since they had very few symptoms and 2 were lost sight of.	false
+300f711383150cf335412603f197b11b8e04b1fb	Their strength is seen in @DISEASE$, aortic surgery, @PHENOTYPICFEATURE$, and basic science fields.	false
+e4f6b4245f1205103a4b253609a0a7ab3b67d745	Initially, pneumonia, @PHENOTYPICFEATURE$, or @DISEASE$ was suspected, but wedge resection revealed hemorrhagic infiltrations.	false
+9e4750d0f6643801bd8eeb5df8dad40abeb4fecf	Lower @DISEASE$ mortality in @PHENOTYPICFEATURE$.	false
+769f6461ce55efaa39fbfad0fb210fea01c4994b	In total, 51 @PHENOTYPICFEATURE$ and 50 @DISEASE$ caregivers were recruited.	false
+2140736f27f5db7a4e26c620b58725a120782866	The @DISEASE$ (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor @PHENOTYPICFEATURE$, clubfeet and first and 5 ray defects.	false
+b3905fc699318229ff055780dc0b4a57a729561d	To determine the prevalence, risk factors, and impact of myopic macular degeneration (@DISEASE$) on @PHENOTYPICFEATURE$ and functioning among adults in Singapore.	false
+38b000c35e3fe8c7f410e9cfb1d8f141f87fa117	Further studies showed that the main causes of bilateral low vision were @PHENOTYPICFEATURE$, high myopic macular degeneration (@DISEASE$), and age-related macular degeneration (AMD).	false
+5ade75649d7dd5c7e893f0c121a04ad3e0db397c	Severe @DISEASE$ has a substantial impact on @PHENOTYPICFEATURE$ and functioning.	false
+453368131729271122d1e50a1771be2b15ada187	Additional causes of @PHENOTYPICFEATURE$ were @DISEASE$, AMD, and eye loss/atrophy.	false
+4033141c4ba12b06a8767ab04a5de4c6cdcef3d6	The main causes of bilateral blindness were cataract, @DISEASE$, and eye loss/atrophy, while the main causes of monocular low vision were @PHENOTYPICFEATURE$, MD, and AMD.	false
+a4781a89f497f43422e67634e4e29df8063b3d1b	The main causes of bilateral blindness were @PHENOTYPICFEATURE$, @DISEASE$, and eye loss/atrophy, while the main causes of monocular low vision were cataract, MD, and AMD.	false
+6e152744c48d467de3b8fe48d0589caefd67ea1b	We used systematic review and meta-analysis to identify and assimilate evidence quantifying blindness and @PHENOTYPICFEATURE$ (VI) associated with myopic macular degeneration (@DISEASE$), then derived models to predict global patterns.	false
+3e7033fb7dcb10d9b354bd15ff824781b0fd7588	The methadone starting dose (MSD) at referral, the maximum dose of methadone (@DISEASE$), the days of methadone treatment, the use of other nonopioid analgesics, symptoms associated with methadone therapy, pain intensity, and @PHENOTYPICFEATURE$ mechanism were recorded.	false
+2843a06a56b9a7f915f7351c1c80e31d49ff06ff	Here, we identify a spontaneous @PHENOTYPICFEATURE$ in GALC, GALCtwi-5J, that precisely matches the E130K missense mutation in patients with @DISEASE$.	false
+30f0fc08846f95dbf9b8b6bed711411e70df9d72	The fetus displayed dysmorphic features resembling the @DISEASE$, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, @PHENOTYPICFEATURE$.	false
+f958500977eb78ba361083dad44bc231a8f4a99d	In the current study, we characterized mid-gestational serum profiles of 22 cytokines and chemokines in mothers of children with ASD (N=415), @PHENOTYPICFEATURE$ (@DISEASE$) without ASD (N=188), and general population (GP) controls (N=428) using a bead-based multiplex technology.	false
+bb3f15e2ef612e31a6ab51f82f3dab71b3d99d1a	The present study investigated the lesion site of @PHENOTYPICFEATURE$ in a group of 10 @DISEASE$ patients.	false
+a283ec374e5872e2093a898ab82db910b37579d9	Eleven of the 17 involved limbs with @DISEASE$ had @PHENOTYPICFEATURE$.	false
+a94840df82aa0f5dd6e482e916740807e0367577	We report a case of a 35-year-old human immunodeficiency virus positive male, having CD4+ count of 336/?l, who presented with @DISEASE$ and had vertigo, painful vesicular eruptions on the right ear and unilateral @PHENOTYPICFEATURE$.	false
+a71452af6d62fb7c2d292d8466440385be6495e8	The causes of pathological laughing and crying syndrome can be classified in two groups: altered behaviour with unmotivated happiness (@DISEASE$, schizophrenia, manias, dementia) and interference with the inhibitory/excitatory mechanisms (gelastic epilepsy, fou rire prodromique in strokes, multiple sclerosis, amyotrophic lateral sclerosis, Parkinson's disease and Parkinson-plus, traumatic injuries, @PHENOTYPICFEATURE$).	false
+69cee92d378f94d58bcfc927e239ba3e4bea842d	The @DISEASE$ is associated with ocular and @PHENOTYPICFEATURE$ and in future studies this should be included in the clinical examination, thereby elucidating the possible role of the proximal chromosome 15 in the development of the neural crest.	false
+35b13d1a058d1ae2680d9f013291c6b36dcb6a69	The E6AP ubiquitin-protein ligase (E3) mediates the human papillomavirus-induced degradation of the p53 @PHENOTYPICFEATURE$ suppressor in cervical cancer and is mutated in @DISEASE$, a neurological disorder.	false
+1e7b605d5b544f54e26eaa6e40afa3ba48449d6b	A child with @DISEASE$, cutis aplasia, @PHENOTYPICFEATURE$, and congenital microform cleft lip, born to a father with a Robertsonian translocation 13;15 is described.	false
+b973633072ecc61604987a24e770d356d8f226f1	Retinoblastoma-binding protein 1 (RBBP1), also named AT-rich interaction domain containing 4A (ARID4A), is a @PHENOTYPICFEATURE$ and leukemia suppressor involved in epigenetic regulation in leukemia and Prader-Willi/@DISEASE$.	false
+00ca627c4c35ec911ba320ead6bb2620c2983455	She manifested monosomy 1p36 and @DISEASE$ including @PHENOTYPICFEATURE$, ataxic movements, intractable seizures with characteristic electroencephalographic (EEG) abnormality compatible with Angelman syndrome, and other minor anomalies, large anterior fontanelle, severe psychomotor retardation, and seizures due to monosomy 1p36.	false
+5e59ab53818f3918b7d19464dd1fec71ac718afa	She manifested monosomy 1p36 and Angelman syndrome including @PHENOTYPICFEATURE$, ataxic movements, intractable seizures with characteristic electroencephalographic (EEG) abnormality compatible with @DISEASE$, and other minor anomalies, large anterior fontanelle, severe psychomotor retardation, and seizures due to monosomy 1p36.	false
+32318a91db496c49210a7b16cc02d4328aeab466	Lacrimal gland @DISEASE$ are usually classified as orbital adnexal @PHENOTYPICFEATURE$.	false
+162100ef6a606bff32a348104672de92c54513eb	It is a mimicking @PHENOTYPICFEATURE$ often confused with other pathologies, primarily, @DISEASE$.	false
+e1bb2aa628656ac6f647df0133485fc87f4ade4a	Associated @DISEASE$ and solid @PHENOTYPICFEATURE$.	false
+b22bb2a469be7c4f236e0b2c6f4c5a791e020516	Beta 2 microglobulin, a @PHENOTYPICFEATURE$ marker of @DISEASE$.	false
+84d7d85165fa82bfabe59f4877d1dcd4cb709923	In addition to patients with @DISEASE$ or @PHENOTYPICFEATURE$, those with cicatricial pemphigoid and those undergoing chronic oral corticosteroid therapy were identified as being at high risk.	false
+e63761f4d6cb0dcf7567acef5834d4378b89bab0	B2-microglobulin, a @PHENOTYPICFEATURE$ marker of @DISEASE$.	false
+e8605174b6a58aaa2512bb0bb09ae586e442de10	Most of these malignancies are either solid @PHENOTYPICFEATURE$ or @DISEASE$.	false
+5c2490dd06872756853acc5e3a33309f937ec7ca	Prognostic role of M2 @PHENOTYPICFEATURE$-associated macrophages in @DISEASE$.	false
+c4b3a5b2beff649dee370db167e253a960d03237	beta 2 Microglobulin, a @PHENOTYPICFEATURE$ marker of @DISEASE$.	false
+3b77a360240999ea620d93d5f5f788e62efa4dd2	Intracranial hemorrhages, @PHENOTYPICFEATURE$ lesions, infarctions, @DISEASE$, and infections, including aspergillosis, have been observed after liver transplant.	false
+d65200ba67fc14272a798746d4ebf786ae71fb9b	We conclude that despite adequate weight gain, moderate @PHENOTYPICFEATURE$ occurred during the first 2 years of life in this group of children treated for @DISEASE$.	false
+1105d369a72682db98c9e8f4c4f005757bf9fe62	Effects of oral contraceptives and @PHENOTYPICFEATURE$ on carrier tests for @DISEASE$.	false
+6b89871fc16d8dd4cf628c49f57d9ab2d8e79cf6	BRIEF profiles in early treated @DISEASE$ (PKU; n=44), early treated @PHENOTYPICFEATURE$ (n=45), frontal focal lesions (n=20) and controls (n=80) were examined.	false
+fcb45729efad35bb83d163b2dce506995591f54f	BRIEF profiles in early treated phenylketonuria (@DISEASE$; n=44), early treated @PHENOTYPICFEATURE$ (n=45), frontal focal lesions (n=20) and controls (n=80) were examined.	false
+ae57cb1a9205796c6bf563fe0826eda99ae74644	High prevalence of overweight and @PHENOTYPICFEATURE$ in females with @DISEASE$.	false
+af81e86514370b6b2466283da5091191951d26e6	If left untreated, @PHENOTYPICFEATURE$, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of @DISEASE$.	false
+0f3b1ab85bb3b8296ad4184f96229371fee4902b	Treating @DISEASE$ based upon strict vegetarian diets has occasionally been found to hamper physical development, some patients presenting with @PHENOTYPICFEATURE$ and malnutrition.	false
+8827b615d0dc9f9c5c45e41aede8dfe1196033d5	Untreated @DISEASE$ is associated with an abnormal phenotype, which includes @PHENOTYPICFEATURE$, seizures, global developmental delay and severe intellectual impairment.	false
+9f76af1ea4cb1b144a9207c706446f3b27a82da9	The incidence of congenital @PHENOTYPICFEATURE$ is 1-2/1,000--higher than for congenital hypothyroidism and @DISEASE$ combined.	false
+9c4f33ca72884c5c16e7457069c50afab630579d	Evaluation of nutritional status and pathophysiology of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+ce3f1ac65da177c3b393462538de5ee201445a75	Dietary treatment may be associated with an increased risk of @PHENOTYPICFEATURE$ in @DISEASE$ (PKU).	false
+e8297203ecdecbc837b83804867492ab915f879c	Dietary treatment may be associated with an increased risk of @PHENOTYPICFEATURE$ in phenylketonuria (@DISEASE$).	false
+7f77918fc5e55708d9b241a6105a74edb8828f92	Two men with @PHENOTYPICFEATURE$ and @DISEASE$ were treated with gonadotrophins.	false
+c65830255131a526405eb4f3dcb93121442d4ff1	The clinical records of 34 patients diagnosed as @DISEASE$ and eight patients who had @PHENOTYPICFEATURE$ and unexplained peripheral eosinophilia but no evidence of tissue eosinophilic infiltration were reviewed and analyzed.	false
+df5cd4203b5857f97c20b2b8d9daf11569ee9c10	@DISEASE$ is an inflammatory disease of unknown etiology characterized by infiltration of the gastrointestinal tract with eosinophilic leukocytes, accompanied by varying @PHENOTYPICFEATURE$ and usually by peripheral blood eosinophilia.	false
+b0f34444a5bb34f8c5570461695ab8afcdd2ac53	Stroke risk was assessed using Cox proportional hazards regression.Comorbidities associated with increased stroke risk, such as hypertension, diabetes, @PHENOTYPICFEATURE$, coronary heart disease, irritable bowel syndrome, and @DISEASE$, were more prevalent in patients with FM and high stroke risk than in the controls.	false
+52249a3b18a6913c1031b7765a2e82f1a3263540	Pituitary apoplexy, adrenal crisis, @DISEASE$ coma, thyroid storm, acute @PHENOTYPICFEATURE$ and hypocalcemia, hyperglycemic emergencies (diabetic ketoacidosis and hyperglycemic hyperosmolar state), and acute hypoglycemia are discussed, with an emphasis on identifying the signs and symptoms as well as diagnosing and managing these clinical entities.	false
+8586477fd9b5c25b0c23c05fa777b277d5ecd86a	The @DISEASE$ (22q11.2DS) is associated with very high rates of schizophrenia-like psychosis and @PHENOTYPICFEATURE$.	false
+df65729f18f7fb25cca9f3be3d3d8bcb882361a3	A five-year-old girl diagnosed with @DISEASE$ and a prolonged primary VZV infection was admitted due to abdominal pain, increasing diarrhoea, @PHENOTYPICFEATURE$, and poor general condition.	false
+a909f3ea12670af7919d23652364ddf76b343b51	This article presents the case of a 32-year-old woman who was diagnosed with @DISEASE$ after a @PHENOTYPICFEATURE$ due to hypocalcaemia.	false
+391459c693153973d85221340e79dd47934a54ad	One brother had findings suggestive of @DISEASE$, while the other had milder anomalies, including @PHENOTYPICFEATURE$.	false
+c8eb56b3b36489bfb42150c2a0d24ea11afaa20e	The @DISEASE$ (22q11DS) is associated with increased rates of psychotic disorders and @PHENOTYPICFEATURE$, but large scale studies are needed to elucidate their interaction.	false
+f6f0f025dc9126c23269c46275d1ab7e023f2758	Frequent gross lesions noted in the @DISEASE$ were hemorrhage and @PHENOTYPICFEATURE$ in the lung, mediastinum, and mediastinal lymph nodes; pleural and pericardial effusions; meningitis; and gastrointestinal congestion and hemorrhage.	false
+ddd6bb4bffc91e9e703c8a6a79e88853519d430f	@DISEASE$ (CBS) is characterized by progressive asymmetric rigidity and localized cortical disorders namely @PHENOTYPICFEATURE$, cortical, sensory loss, focal dystonia, and refractory to levodopa treatment.	false
+40576d99ffba18b6ef7b79df88d34e2821b38d1c	@PHENOTYPICFEATURE$ and motor dysfunction in @DISEASE$.	false
+4865c6d748d26fe94e3d00dd6b391f0cfb92d938	Ten patients with probable CJD had asymmetric manifestations with hemiparesis, focal myoclonus, dystonia or @PHENOTYPICFEATURE$; 9 had clinical manifestations mimicking the @DISEASE$.	false
+477b6f9623ad036c9cbc8d4c82eea621fe8950f8	Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, @PHENOTYPICFEATURE$, Alzheimer disease, atypical cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), @DISEASE$, and atypical Parkinson disease, suggesting that ALSP may be significantly underdiagnosed.	false
+8e8db86117c9026a6a46fb6974bf4fb57fd92102	To review the types of motor @PHENOTYPICFEATURE$ that may occur with PPA, its primary variants, and its overlap syndromes (progressive supranuclear palsy syndrome, @DISEASE$, motor neuron disease), as well as with primary progressive apraxia of speech.	false
+ded476ad3b31a235d9530811b00bbebc7c43ca0b	The association of complex @PHENOTYPICFEATURE$ with @DISEASE$ lead to the diagnosis of Pallister-Hall syndrome.	false
+16ed9660036323d62652305a0fec03d886c1b3be	These findings prompt us to consider skeletal dysplasia and oro-@PHENOTYPICFEATURE$ as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling "@DISEASE$" (CHHS).	false
+a718d536b145b0add73bb32b8d50dabb383d6d9a	Few studies report incidence of mild @PHENOTYPICFEATURE$ (MCI) and other mild cognitive disorders (@DISEASE$) in cohorts in their 60s, at an age when diagnoses are less stable.	false
+f368b4d60fc04172d06a55c65e0fd2c641d80dcf	The most common risk factor among patients with @PHENOTYPICFEATURE$ (@DISEASE$ or dementia) was hypertension (69; 44.5 %), followed by ischemic heart disease (64, 41.3%).	false
+62f70b149349f5e148ab6512681a442693cc034d	We treated a 28-year-old man with epilepsy, characterised by unprovoked @PHENOTYPICFEATURE$ accompanied by @DISEASE$.	false
+b003b890e77b24168163f88234c57fed248faae2	The aim of this study was to investigate whether dietary intake of these minerals was also associated with increased risk of mild @PHENOTYPICFEATURE$ (MCI, amnestic) and other mild cognitive disorders (@DISEASE$).	false
+0644d0f922895a54c6ef0734c9229e1bc15a8ab7	To investigate self-reports of memory and health as predictors of transition to mild @PHENOTYPICFEATURE$ (MCI) or any mild cognitive disorder (any @DISEASE$) in a community-based study.	false
+cd3a7fe041c944e18bf2a659d78048759bd9e19d	Preclinical Research Mild Cognitive Impairment (MCI) now termed Mild Neurocognitive Disorder (@DISEASE$) in DSM-5, is widely used to define the disorder in individuals who have subjective cognitive deficits, objective memory impairments, or other @PHENOTYPICFEATURE$, without impairments in daily activities.	false
+5ca656512ca12f78f3a39d3885d3e35c1c0a3372	Such syndromes have long been known in psychiatry under terms, such as complex capacity disorders, minimal cerebral dysfunction (@DISEASE$), minimal brain dysfunction (MBD), mild psycho-organic syndrome, psycho-organic axis syndrome, mild @PHENOTYPICFEATURE$, developmental disorder and developmental biological syndrome.	false
+501c10cc9666d03c3e2a967d0c69245ffdadc9c4	During evaluation of chronic @PHENOTYPICFEATURE$, a 9-year-old male was found to have a horseshoe kidney (HSK) with multicystic dysplasia (@DISEASE$) of the left-sided component.	false
+3b0a315e9d06003acfb4b8ace384dc6acb8f2ca7	Here, we reviewed several channelopathies including spinocerebellar ataxia type 6, familial hemiplegic migraine, @DISEASE$, familial @PHENOTYPICFEATURE$ periodic paralysis, congenital myotonia, malignant hyperthermia, epilepsy, Gitelman syndrome and Lambert-Eaton syndrome.	false
+8808dc496cc8ef59e325c709648ee14352543038	A 38-year-old female patient experienced a sudden onset of unilateral @PHENOTYPICFEATURE$ due to @DISEASE$.	false
+9fe8254c082b8410f7f492ba046db7feb51b4af6	We describe a rare case of sudden onset of unilateral @PHENOTYPICFEATURE$ occurring as the first symptom of @DISEASE$, which is characterised by progressive stenosis of the intracranial internal carotid arteries and their proximal anterior cerebral arteries and middle cerebral arteries.	false
+840708bc115a261c56750224e7417f0eafb39d97	SLE, anti-cardiolipin antibody syndrome, pseudo-moyamoya, or @DISEASE$ can all present in young women with intracerebral events, making diagnosis difficult.Our patient presented with fatigue, @PHENOTYPICFEATURE$, leukopenia, and a positive anti-nuclear antibody.	false
+0ae09e327fbdecad6222d295a4800a4a02b712f6	Two patients had severe dwarfism and @PHENOTYPICFEATURE$, but also had other clinical characteristics of the @DISEASE$, including characteristic skin changes, abnormal hair growth, sensitivity to sunlight, defective nails and teeth, and juvenile cataracts.	false
+4ae13512035ea319d8ad16dea7b1c834bc148e03	These include: 1) the organization of pediatric cardiology and the contribution of volunteer health organizations, 2) continuing medical education aimed at promoting early diagnosis of congenital heart disease and prompt referral to a cardiac center, 3) advances in the technology of cardiac catheterization, 4) Rashkind's balloon atrial septostomy and other catheter manipulative procedures, 5) pharmacologic manipulation of the ductus, 6) beta-adrenergic blockade for control of a variety of problems, including paroxysmal @PHENOTYPICFEATURE$ attacks, certain arrhythmias and relief of symptoms in @DISEASE$) echocardiography, and 8) advances in arrhythmias, electrophysiologic studies and use of pacemakers.	false
+d3c158728cd628de91764e86d3bdc6d7d85e9e93	The SAMD9 gene is down-regulated in a variety of @PHENOTYPICFEATURE$ and deleteriously mutated in @DISEASE$.	false
+47d92316926414c3e70ac4661ea3b5ecbea68fb1	In this data brief, we examine major eye and @PHENOTYPICFEATURE$ (anophthalmia/microphthalmia, anotia/microtia, and congenital @DISEASE$) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States.	false
+611dd79f3f79358680fe66e71f2e219f8a99f833	In this data brief, we examine major eye and ear anomalies (anophthalmia/@PHENOTYPICFEATURE$, anotia/microtia, and congenital @DISEASE$) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States.	false
+c0d8adcae7c7438e488efbede014ec87efa2b153	In this data brief, we examine major eye and ear anomalies (@PHENOTYPICFEATURE$/microphthalmia, anotia/microtia, and congenital @DISEASE$) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States.	false
+a3c2b18884eb491707adbb6048ad4a0247d68410	@DISEASE$ carries a @PHENOTYPICFEATURE$ prognosis and surgery is frequently required to control the intraocular pressure.	false
+e3ed4d0c835becc296d55806a68e52a74ceb0d81	Two eyes with @DISEASE$ had @PHENOTYPICFEATURE$ outcomes.	false
+c8160d8ee1cd6dc47050b4e792ff26dc4d69b663	[@DISEASE$ following @PHENOTYPICFEATURE$ surgery--a case report].	false
+a57ede77152ed032d42862b51b95929c9c87b552	@DISEASE$ after intracapsular and extracapsular @PHENOTYPICFEATURE$ extraction in diabetic patients.	false
+a9dbcb8a025e5bb109c1810782f56e384e054c0f	A 62-year-old man with biopsy-proven Crohn disease presented with bilateral @PHENOTYPICFEATURE$, bilateral iris new vessels, and @DISEASE$ in the left eye.	false
+0b5719e282d1b442c4e3a2c86e28e7a074bff7f2	In eyes, retinopathy, @PHENOTYPICFEATURE$, and @DISEASE$ are observed.	false
+a57ede77152ed032d42862b51b95929c9c87b552	@DISEASE$ after intracapsular and extracapsular @PHENOTYPICFEATURE$ extraction in diabetic patients.	false
+cb54062859682e662a22314ea61d9c20f481a657	Both had @PHENOTYPICFEATURE$ outcomes because of associated central retinal vein occlusion and @DISEASE$.	false
+0ad6104ec1ea7d9e4db41f6e37a2287f154a6ecd	Vitreous hemorrhage is common in advanced @DISEASE$ (NVG), which has @PHENOTYPICFEATURE$ prognosis.	false
+87449c5ee194de3b3ce6b4c89849efb1c2e61679	Ocular examination revealed @DISEASE$, @PHENOTYPICFEATURE$ and posterior synechiae.	false
+0cf4b81ae1e57835da1daefdae6fd66840603fd9	We emphasize that renal disease, learning disability, @PHENOTYPICFEATURE$, epilepsy, autism, schizophrenia, structural brain abnormalities, facial dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects, and @DISEASE$.	false
+60ab366beeffe909ec5ac7e0b600ab9c2c9ace8e	We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy, @PHENOTYPICFEATURE$, schizophrenia, structural brain abnormalities, facial dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects, and @DISEASE$.	false
+d61e7b1b7480687192074aacd00a3d29e6b637c6	Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, @PHENOTYPICFEATURE$, hypotelorism, convergent strabismus, oesophageal and @DISEASE$, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia.	false
+f68046ca1ac0727bc73e9943770d078a783b650a	One child had @DISEASE$ and @PHENOTYPICFEATURE$, one with intestinal malrotation and the other with a rare combination of intestinal malrotaion and total colonic Hirschsprung's disease.	false
+add2d93612f04996596396d624daf2509c84d8af	A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, @PHENOTYPICFEATURE$, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and @DISEASE$.	false
+f02076d595c575866b3adb954c92cf888482c9fa	Independently, @DISEASE$ syndrome (CRS), @PHENOTYPICFEATURE$ (ACC) and partial lobar holoprosencephaly (HPE) have been reported in infants of diabetic mothers.	false
+d66a1f41ef7c05671ead23f9940db8fcf8babe84	Commonly reported CDs included @DISEASE$, cleft lip and palate, talipes equinovarus, neural tube defects and @PHENOTYPICFEATURE$.	false
+620c5c99d8537cfe3b6d677c78f498803f3c9322	Nine patients with @DISEASE$ were surgically treated for @PHENOTYPICFEATURE$.	false
+cc2304039940d102f8eb659934450fc1b8bddc44	To report our personal experience in the surgical treatment of @PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+973f12fef38283fdcb12ea2f4ebdb1bc4bff386f	Challenges and outcomes of @PHENOTYPICFEATURE$ management in children with @DISEASE$.	false
+ef1d93da0eb0ee0eba4f24982d70b622162812ca	To describe management strategies for @PHENOTYPICFEATURE$ diagnosis, surgical treatment, and post-operative management in children with @DISEASE$.	false
+529cd7e3bcf653a09c7aa767006d1ce6bb3a1e2a	Children with @DISEASE$ (DS) have a high prevalence of sleep problems, including behavioural @PHENOTYPICFEATURE$ and obstructive sleep apnea.	false
+7528ba73356ae1a93ec5e23e88c5807416fe9a78	Parental perceptions of @PHENOTYPICFEATURE$ and sleep-disordered breathing in children with @DISEASE$.	false
+a913d84db497993b2280ca57c6e72aa64b3578cd	Incidence of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+e0b6dd382fcb526bea92384a19a3dd692f656da2	Behavioural @PHENOTYPICFEATURE$ are common among children with @DISEASE$ (DS).	false
+3243712686b1ba75ba07bd269f90c7ff50abbc9f	Sleep problems, including sleep apnoea and behavioural @PHENOTYPICFEATURE$, are common among adults with @DISEASE$ (DS).	false
+fffd60b09f61dcd01e0e8ebf7ad2f1ea3edf1c56	Associated anomalies and diseases included 3 cases of immature infant, 2 of myelomeningocele, and single cases of Arnold-Chiari malformation, cerebral palsy, @PHENOTYPICFEATURE$, laryngomalacia, William's syndrome, Wiedemann-Beckwith syndrome, hypoxia, esophageal hiatus hernia, gastroesophageal reflex, spina bifida, @DISEASE$, and cerebral atrophy.	false
+b48c7fb29e6f62122360b56ae6a2ad58dbf707ee	Mesoaxial synostotic syndactyly (@DISEASE$) with phalangeal reduction is an uncommon congenital @PHENOTYPICFEATURE$ characterized by central osseous synostosis at a metacarpal level, mesoaxial reduction of the fingers, and preaxial cutaneous syndactyly in toes.	false
+d6781ed711a3e5310996ddcc00ee5bf6f2b045d3	@DISEASE$ comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, @PHENOTYPICFEATURE$, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern.	false
+d3063ede5668842473a601a811e69aaa45c20887	[A rare cause of @PHENOTYPICFEATURE$: sporadic @DISEASE$].	false
+2971c3548c499febc338469990d27c043c63f2e3	We treated 50 patients (female/male: 26/24) with neurovascular compression (NVC) syndromes (trigeminal neuralgia, @PHENOTYPICFEATURE$ and @DISEASE$) by MVD from 2003 to 2006.	false
+2f08af724d01426368b7b43f74a5e335a7bb760e	There are a significant number of MS patients who actually suffer from painful conditions such as central and @PHENOTYPICFEATURE$, migraines, trigeminal neuralgia, painful  tonic spasms, complex regional pain syndrome, @DISEASE$, and transverse myelitis.	false
+34a3c697c47873bb35213d8a0746a7bc09bc245e	Post-@DISEASE$ @PHENOTYPICFEATURE$ was 5.1 (1.06 - 24.53) times more likely in patients with lesions above the FML.	false
+d8a9ca66f9a114837e629de183441b6f57d49433	Peritumoral @PHENOTYPICFEATURE$ is a recognized complication following stereotactic radiosurgery (@DISEASE$).	false
+67bf908f0d69718e4e22716b9f5294bcdf379d09	Failure to thrive, @PHENOTYPICFEATURE$, and body asymmetry led to the diagnosis of @DISEASE$, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR).	false
+8f11983178e57ee8509d1d6f63a299ebe4d5fe8a	Long-term follow up is required to detect and appropriately manage post-@DISEASE$ @PHENOTYPICFEATURE$.	false
+2f3135dda7ce12c7de5cc546490b7d6db8335dcd	All 12 patients studied exhibited the classical @DISEASE$ phenotype with low birth weight, connatal @PHENOTYPICFEATURE$, typical facial features and short stature at presentation.	false
+3df8a6e8ef4f2437383d38a46271ea839057a6e5	We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of @DISEASE$.	false
+452f1cb671e1034b0ec9f92f62e1bc679d3cb85d	We describe a 7-month-old male child with Silver-Russel syndrome (@DISEASE$) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as @PHENOTYPICFEATURE$, clinodactyly, essential for the diagnosis of SRS.	false
+5fd996a8258f7dd75dfd1648569a46a19cab9b28	To determine the prognostic significance of pretreatment @PHENOTYPICFEATURE$, lesion size and location on morbidity following stereotactic radiosurgery (@DISEASE$).	false
+843924d4493763798256a6aa1de893633c15887b	The timing of immunotherapy and @DISEASE$ may affect LRFD and postradiosurgical @PHENOTYPICFEATURE$.	false
+5eaf6ff5ebfa4bb7a5ed1f8427a4b095a7713384	Background Silver-Russell syndrome (@DISEASE$) is characterized by growth retardation and variable features including @PHENOTYPICFEATURE$, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.	false
+71d140eed12324d18a26054bb6f167bd9d7dfbc9	Peri-lesional @PHENOTYPICFEATURE$ is a serious and well-known complication of stereotactic radiosurgery (@DISEASE$).	false
+ff2418659083a4db02731d25fa98f9552699a37f	@DISEASE$ (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by @PHENOTYPICFEATURE$, corticospinal tract dysfunction, ataxia, and dementia.	false
+7a81578822e79ac7b12f78091aa12129e0c50ec6	A 4-week-old infant presenting with neonatal cholestasis was found to have @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e5b351aa565e59ee85b7d19fac4536d097cdb86a	Clarifying the relation between LCA and associated neurological abnormalities such as @PHENOTYPICFEATURE$, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+6f172068f92815bc9dc33111caf4a792a4d1a9d4	Clarifying the relation between LCA and associated @PHENOTYPICFEATURE$ such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and @DISEASE$ has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome.	false
+1fec52e0d069b628be99d164de3244464dc2f4f8	Mineralcorticoid hypertension includes a spectrum of disorders ranging from renin-producing pathologies (renin-secreting tumors, malignant hypertension, coarctation of aorta), aldosterone-producing pathologies (primary aldosteronism - @DISEASE$, familial @PHENOTYPICFEATURE$ 1, 2, and 3), non-aldosterone mineralocorticoid producing pathologies (apparent mineralocorticoid excess syndrome, Liddle syndrome, deoxycorticosterone-secreting tumors, ectopic adrenocorticotropic hormones (ACTH) syndrome, congenitalvadrenal hyperplasia), and drugs with mineraocorticoid activity (locorice, carbenoxole therapy) to glucocorticoid receptor resistance syndromes.	false
+df7c5864d0207cd58488572e770575944482a78a	This pattern of abnormalities is distinct from other disorders with @PHENOTYPICFEATURE$ and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the @DISEASE$.	false
+33a5add3437905e454da21456e895449db026297	They include genetic conditions like the @DISEASE$, the Sneddon syndrome, Fabry disease and others, as well as certain inflammatory disorders like @PHENOTYPICFEATURE$ lupus, Bechet disease.	false
+5bd5f3ad4f5ba460317c0102b599e04315b9d55d	We report a case of a 50-year-old man who presented with severe @PHENOTYPICFEATURE$ as the initial manifestation of @DISEASE$.	false
+784f915e663244336aa680a71fffadf32263dd4f	[@DISEASE$ detected with respiratory failure and right ventricular @PHENOTYPICFEATURE$].	false
+1c62a40fd9cd9e2814afa8245fb0c7d172be9081	[Case of @DISEASE$ with severe respiratory and @PHENOTYPICFEATURE$].	false
+2609b0b062ceb75674569c522dc98e2451a834ec	The risk for @PHENOTYPICFEATURE$ with @DISEASE$ and/or laser in situ keratomileusis/photorefractive keratectomy in the same range of myopia is possibly 3.0% to 6.5%.	false
+47dd17970753eab8dd8667ac597791a4af5f0f74	The combination of @DISEASE$, humoral immune deficiency, @PHENOTYPICFEATURE$, intellectual deficit and characteristic facial dysmorphism has recently been delineated as a discrete disorder thus far only reported in males.	false
+e7dd36ae247e7329bd1ecd37d711f00d5954bb5b	Roifman Syndrome is a rare congenital disorder characterized by @PHENOTYPICFEATURE$, cognitive delay, @DISEASE$ and antibody deficiency.	false
+6daed02432b118e88adebe306c0f09ef433af964	Roifman syndrome is a constellation of antibody deficiency, @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, and retinal dystrophy.	false
+6b7814aa48a9ae5afc052d64156f0ed86ea6ce1b	Roifman syndrome is a rare inherited disorder characterized by @DISEASE$, @PHENOTYPICFEATURE$, cognitive delay, hypogammaglobulinemia, and, in some patients, thrombocytopenia.	false
+b7971198a1b3521408afeda16ef85ee7aea023c1	Early-onset diabetes, liver dysfunction, @PHENOTYPICFEATURE$, @DISEASE$, and tendency to skeletal fractures due to osteopenia are characteristics of Wolcott-Rallison syndrome (WRS).	false
+2a7132266bbbd239cdcd7bb35e9a6d28881a4810	Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, @DISEASE$, tendency to skeletal fractures secondary to osteopenia, and @PHENOTYPICFEATURE$.	false
+5c72c932a036de36cfd3a3f7ebb127cc00435e8d	The Authors describe an uncommon case of growth retardation; the clinical and radiological elements that the Authors to a diagnosis of @DISEASE$ (SED) are noted; they compare this to other diagnosis of different types of @PHENOTYPICFEATURE$, they underline the necessity of taking these rare types into consideration before undergoing diagnostic procedures that would be costly both to the patient and society.	false
+2cd02e09f362aef3ff0dddafe3415ecffc373e9d	The Authors describe an uncommon case of @PHENOTYPICFEATURE$; the clinical and radiological elements that the Authors to a diagnosis of @DISEASE$ (SED) are noted; they compare this to other diagnosis of different types of growth retardation, they underline the necessity of taking these rare types into consideration before undergoing diagnostic procedures that would be costly both to the patient and society.	false
+961e8bd94038251e1c346ea032d0a0432b740197	This unique animal model closely resembles human syndrome X, expressing insulin resistance, @DISEASE$, spontaneous @PHENOTYPICFEATURE$, and hyperlipoproteinemia. Moxonidine, a selective imidazoline receptor agonist, was administered to lean spontaneous hypertensive rats (SHR) and SHROBs for 90 days in food at 8 mg/kg/day and significantly reduced mean blood pressure.	false
+5df83e6128e5aa53f38fd5bf30793d5a013c4279	The SHROB rat is a unique strain with @DISEASE$, hypertriglyceridemia, @PHENOTYPICFEATURE$, renal disease with proteinuria, and genetically determined hypertension, characteristics paralleling human Syndrome X.	false
+351d864bb1006d55ff5f8a8d15aa3967138425e4	The obese SHR (Koletsky rat; SHR-k) is a unique animal model for the study of microvascular changes associated with @DISEASE$, spontaneous @PHENOTYPICFEATURE$, endogenous hyperlipidaemia, and hyperinsulinaemic, non-insulin dependent diabetes mellitus (Type II). 2. Lean and obese SHR-k exhibit retinal vascular changes which have not been previously characterized and are more severe than previously described in other animal models of experimental hypertension or non-insulin dependent diabetes.	false
+dad6ecc9c55ec705f589887910f8beab9d671850	In this review the clinical implications of molecular diagnostics are illustrated for some endocrine diseases: congenital adrenal hyperplasia, congenital hypothyroidism, thyroid hormone resistance, familial hypocalciuric @PHENOTYPICFEATURE$, growth hormone deficiency and resistance, and @DISEASE$.	false
+0f80b86c7c60e20d8e92e24ef91e4051f7116df3	In this study, we investigated the long-term effects of moxonidine treatment on cardiac natriuretic peptides (ANP and BNP) in Spontaneously Hypertensive Obese Rats (SHROBs), a rat model that resembles human Syndrome X. SHROBs expressing spontaneous @PHENOTYPICFEATURE$, insulin resistance, and @DISEASE$ (weight 590 +/- 20 g, at 30 weeks) received moxonidine in chow at 4 mg/kg/day for 15 days.	false
+de8a46f466d2a908b97b6c878b5ee5b25d0debc5	The @DISEASE$-hyperglycemic mouse, C57 BL/6J-ob, exhibits hyperglycemia and @PHENOTYPICFEATURE$.	false
+c60610fce452172b8a4012532cf2ae9f25f2811a	@PHENOTYPICFEATURE$ in @DISEASE$ (SCA17).	false
+19fb10493a1a077e1d459b7ca929018a436c52a4	[A case of diffuse alveolar hemorrhage associated with interstitial @PHENOTYPICFEATURE$ and @DISEASE$].	false
+337aa9f2b5ae999a5d13bde1c5211aaa20860268	@PHENOTYPICFEATURE$-mild or dementia-exists in patients with @DISEASE$.	false
+04050021616e68ecacaeea103b9c5f2c0c2b4588	Patients with @DISEASE$, primary biliary cirrhosis (PBC), @PHENOTYPICFEATURE$, and mixed connective tissue disease were studied.	false
+657f5bde4028c300ec6ec0feede6f38f28c2536b	Six patients had @PHENOTYPICFEATURE$, five had mixed CTD, four had @DISEASE$, and one had primary Sj?gren's syndrome.	false
+b7459ceaabe4069c26d39e58573256027d579035	It is associated with connective tissue diseases, including @DISEASE$, @PHENOTYPICFEATURE$, and mixed connective tissue disease.	false
+54088491bb395b9eebf7b09c6940a8ee13f0ca34	We present the case of a 44-year-old woman affected by @DISEASE$ (SSc) who was admitted to our department for abdominal pain, nausea, @PHENOTYPICFEATURE$ and fever.	false
+ad49619e41feb55b4ebd5a02cadcb7fa9929e237	We present the case of a 44-year-old woman affected by @DISEASE$ (SSc) who was admitted to our department for @PHENOTYPICFEATURE$, nausea, vomiting and fever.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+3d8b8970620b973acf9a127792167ead8556bc42	Case reports suggest that solvents are associated with various connective tissue diseases (systemic sclerosis, scleroderma, undifferentiated connective tissue disease, @PHENOTYPICFEATURE$, and rheumatoid arthritis), particularly @DISEASE$.	false
+37a686fbbcf25f54794bbe88db24f3185627c3df	Case reports suggest that solvents are associated with various connective tissue diseases (@DISEASE$, scleroderma, undifferentiated connective tissue disease, @PHENOTYPICFEATURE$, and rheumatoid arthritis), particularly systemic sclerosis.	false
+cca3a36a3929e58144b168ead6022ea69fea1e00	Comparison of survival among patients with connective tissue disease and cardiomyopathy (@DISEASE$, @PHENOTYPICFEATURE$, and undifferentiated disease).	false
+509a91d24da966df94612ebe9afde8e6c0b5bf86	@DISEASE$ @PHENOTYPICFEATURE$ was absent in all 5 cases.	false
+21af06fa6d62ffc47e00c7590ef3968f0312b0c6	Congenital @DISEASE$ with associated @PHENOTYPICFEATURE$.	false
+bfa503ba5885cde17c38f231b1fb4a9f5848c186	A fourth case, a @DISEASE$ infiltrated skeletal muscle, creating giant cell fibroblastoma-like giant cell mimics--a result of skeletal @PHENOTYPICFEATURE$ or atrophy with nuclear conglomeration.	false
+636677100ece26b92571786bc58a156634f8397a	@DISEASE$ (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and @PHENOTYPICFEATURE$, but the risk of sudden death in PCD is unknown.	false
+b52f4805ca102fed3f537a4599332caaf567d5f4	@DISEASE$ can be misdiagnosed as a progression of systemic @PHENOTYPICFEATURE$.	false
+45e4ad37217149d362d4ea50c523a7a94c691889	@DISEASE$ can cause cardiomyopathy and @PHENOTYPICFEATURE$.	false
+c00c8f2cf032dc93fea0eb6ed11702295da19661	@DISEASE$ may be primary or secondary and may result in @PHENOTYPICFEATURE$.	false
+c3ce0ffdfcfe4be3cd304da91d9bbfc89b4f5bc6	@DISEASE$ is characterized by fever, fatigue, @PHENOTYPICFEATURE$, lymphadenopathy, and laboratory abnormalities including pancytopenia, liver dysfunction, hypertriglyceridemia and hyperfibrinemia.	false
+6eb13387f37d65887edd58cfa5f83884ce759dbc	Arterial @PHENOTYPICFEATURE$ and intrapulmonary shunts were diagnosed in 17.5% of this cohort of children with cirrhotic or noncirrhotic CLD representing the classic @DISEASE$.	false
+a804cdbdf6bf6842f0347325718ed53f5cba917d	Hepatopulmonary syndrome (@DISEASE$) is characterized by the presence of liver disease, arterial @PHENOTYPICFEATURE$ and intrapulmonary vascular dilatation (IPVD).	false
+f3dd3c98ec1ae729ed6e017e5dce36354a45e824	Ocular findings in @DISEASE$ include reduced visual acuity; congenital nystagmus, strabismus and @PHENOTYPICFEATURE$.	false
+98ba1b9e24869b43904afca03fe43675b79304cc	The hepatopulmonary syndrome (@DISEASE$) is characterized as a triad: liver disease, intrapulmonary vascular dilatation, and arterial @PHENOTYPICFEATURE$.	false
+65272513137955a373b378fdcb232e9201f87b11	Hepatopulmonary syndrome (@DISEASE$) is defined by the presence of the triad of liver disease, arterial @PHENOTYPICFEATURE$, and intrapulmonary vascular dilatation.	false
+3ddaba4bc0573c991e0ba7909e70dee502bc3ec3	The hepatopulmonary syndrome (@DISEASE$) is defined as a triad of liver dysfunction, intrapulmonary vascular dilatations (IPVD) and arterial @PHENOTYPICFEATURE$.	false
+eaaf8850850f5286c9426b03bcec0ccd01ade3de	Hepatopulmonary syndrome (@DISEASE$) is a triad of advanced liver disease, intrapulmonary vasodilatation (IPVD), and arterial @PHENOTYPICFEATURE$.	false
+43e0b2deb02b8b5b23b082f228a4700840db0bc7	In addition, higher pulse oximetry thresholds reliably identified @DISEASE$ patients with less severe @PHENOTYPICFEATURE$, albeit with lower specificity.	false
+65be75c43ad229c18eb2837878c27d08d6d9f0bb	Hepatopulmonary syndrome (@DISEASE$) is a triad of advanced liver disease, intrapulmonary vasodilatation and arterial @PHENOTYPICFEATURE$.	false
+9bfa7d29ff26b50153eb04b1680ecc7409bf6870	Seventy-three twins had chronic simple glaucoma, while 34 twins had capsular @PHENOTYPICFEATURE$, and in 7 patients @DISEASE$ was noted in one eye and capsular glaucoma in the second eye.	false
+f5e2de488df1212adc38b0f8962e6734342a9ec6	Seventy-three twins had @DISEASE$, while 34 twins had capsular @PHENOTYPICFEATURE$, and in 7 patients chronic simple glaucoma was noted in one eye and capsular glaucoma in the second eye.	false
+5dc7a03af2f54ec8da884617b22ca7d363ec42cd	Seventy-three twins had chronic simple glaucoma, while 34 twins had capsular glaucoma, and in 7 patients @DISEASE$ was noted in one eye and capsular @PHENOTYPICFEATURE$ in the second eye.	false
+9f3ce6d076c8ce1f4b228ba40080d4e986306617	Seventy-three twins had @DISEASE$, while 34 twins had capsular glaucoma, and in 7 patients chronic simple glaucoma was noted in one eye and capsular @PHENOTYPICFEATURE$ in the second eye.	false
+17da72ba8fd8302817b3fa0b9642ffc58337e984	These results indicate that the pattern of visual impairment associated normotensive @PHENOTYPICFEATURE$ and @DISEASE$ is not identical.	false
+397bec2d55326d56077292c6741c7c95f5bd17c1	These results indicate that the pattern of @PHENOTYPICFEATURE$ associated normotensive glaucoma and @DISEASE$ is not identical.	false
+4a4fcff7cd2753dab37ff0b8b5e0dba6fbcbf85f	Correlations between Corneal Biomechanics and @PHENOTYPICFEATURE$ Severity in Patients with @DISEASE$.	false
+ffb640ff9c2a81ec2bb3581e3c669e9dffc18664	Association between Platelet Parameters and @PHENOTYPICFEATURE$ Severity in @DISEASE$.	false
+51733ac3f93c7428a662fd1b6e2432637b301cbd	The most common causes of age related eye disorder and @PHENOTYPICFEATURE$ in the elderly are cataracts and @DISEASE$.	false
+aa67a9f60a251d96dfaceddba19a4d77d314b581	The most common causes of age related eye disorder and visual impairment in the elderly are @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c5c18f880dcb71997673d36bd75662cbf8822efa	The most common causes of age related visual impairment in the elderly are presbyopia, @PHENOTYPICFEATURE$, age related macular degeneration, @DISEASE$ and diabetic retinopathy.	false
+0eb38b71161690580cedf206696d16139c2db656	The most common causes of age related @PHENOTYPICFEATURE$ in the elderly are presbyopia, cataracts, age related macular degeneration, @DISEASE$ and diabetic retinopathy.	false
+f2983091be1347106ed03a2646d167983434c4a8	@PHENOTYPICFEATURE$ risk factors in @DISEASE$ patients compared to ocular hypertensives and control subjects.	false
+175cc5e4b6b79bab11dc81c286b19241bed8c0d6	Clinical features of capsular @PHENOTYPICFEATURE$ in comparison with @DISEASE$ in Japan.	false
+f35212d6e40f70ceea0ebd4e312791a043324095	The associations among retinal vascular parameters with glaucoma, the main glaucoma subtype @DISEASE$ (POAG), and @PHENOTYPICFEATURE$ (OHT).	false
+8dc63f86f1035c8edd92cf65ad782ab0bc138979	@DISEASE$ and @PHENOTYPICFEATURE$ formation.	false
+0cf8c2b3f3a6e72e9816ab60f55ec8303273f396	Such a metabolic relationship exists in @DISEASE$, which illustrates how a @PHENOTYPICFEATURE$ might be protective.	false
+6cae6360a8df17871bc64ed3f53d720d6dcb0320	A possible association of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+d29817ab5ab475a3a4927a99661f6e91c7fec2ce	Such a metabolic relationship exists in @DISEASE$, that illustrates how a @PHENOTYPICFEATURE$ might be protective.	false
+05e20889f974efd55a6b2dff9920a0e42898f4cb	No interference was observed in specimens from patients with @DISEASE$, chronic or acute myelogenous leukemia, or @PHENOTYPICFEATURE$.	false
+f9945e193efeef6fdf80966f64ed530137143136	Carcino?d @PHENOTYPICFEATURE$ revealing @DISEASE$.	false
+1daff5a90fcf1d0ad6be544f5efaa6b4e2f9d8b6	Increased incidence of pancreatic @PHENOTYPICFEATURE$ in @DISEASE$.	false
+85e70de071a35a775577a58363f726d26ac0687c	Gastric carcinoids are indolent @PHENOTYPICFEATURE$ occurring with increasing frequency in patients with @DISEASE$.	false
+5a9d9c071d3660104cc401376318522c28b732e5	Gastric carcinoids generally are indolent @PHENOTYPICFEATURE$, particularly when associated with @DISEASE$ or hypergastrinemia or when smaller than 2 cm.	false
+b9afee5b6b92c789df8e549440651675d157a53c	The most important type is the @PHENOTYPICFEATURE$ occurring in patients with chronic atrophic gastritis with and without @DISEASE$.	false
+f33281fb5300f920b5e4ffc19d9b8a11d247950a	Autoimmune metaplastic atrophic gastritis (AMAG) is a significant risk factor for @DISEASE$ and gastric @PHENOTYPICFEATURE$.	false
+6c8c70a77a5053bc9a519f1af9dedb49699f9a72	Principles in treatment planning of @DISEASE$ @PHENOTYPICFEATURE$.	false
+5da5908e289eedf6cbaa6a96f4f4df3fbbc5436b	A new arthrogryposis syndrome with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+2ea652d2a0bb2f15c461ecf6b21085a67842f4aa	Another @PHENOTYPICFEATURE$ was a slight right @DISEASE$ weakness.	false
+7c86f32e17bd3c76e671ac484c6f7e0774c53181	A large number of clinical findings have been reported in affected patients, including cardiac defects, characteristic @DISEASE$ features, @PHENOTYPICFEATURE$, cleft palate, hypoparathyroidism, learning difficulties and psychiatric disorders.	false
+652e91802119088aac31b29b8bd5e23cbb78fd28	A large number of clinical findings have been reported in affected patients, including cardiac defects, characteristic @DISEASE$ features, thymic hypoplasia, cleft palate, @PHENOTYPICFEATURE$, learning difficulties and psychiatric disorders.	false
+d1c8372e2c543f5f4ca03d6c4bd06dd7e0786ffd	Humoral immunodeficiency with @DISEASE$ dysmorphology and @PHENOTYPICFEATURE$: a new syndrome.	false
+d97d6a8c959a31834b00cddc019e702e070dc79c	This is a congenital disorder characterized by @DISEASE$ dysmorphic features, cardiac defects, @PHENOTYPICFEATURE$, cleft palate, hypoparathyroidism, and psychiatric disorders.	false
+124df75e560a2052ed6ccb3710cbff8676a90d83	This is a congenital disorder characterized by @DISEASE$ dysmorphic features, cardiac defects, thymic hypoplasia, cleft palate, @PHENOTYPICFEATURE$, and psychiatric disorders.	false
+31f6c56dacccefd839be594282c31ab82b4afbe9	No one has previously used combination therapy for the treatment of @DISEASE$ hemi-atrophy with hemi-@PHENOTYPICFEATURE$.	false
+54a20db9ee985b2df3b97bd36c110a2a84e0c80a	What is the risk of developing glomerulonephritis in a child with @DISEASE$ @PHENOTYPICFEATURE$ and hypocomplementemia?	false
+f1b2e52c82628b87e31dabb41bb98cdfbbca5ef7	A familial syndrome of cranial, @DISEASE$, oral and @PHENOTYPICFEATURE$.	false
+1abc2994dfb97f3ce6955e0f3cc04834eef261ca	Discovery of 49 XXXXY syndrome in a six years young boy allows description of the main clinical characteristics of this disease: hypotrophy, @DISEASE$ anomalies, hypogenitalism, @PHENOTYPICFEATURE$ and oligophrenia.	false
+9f785932f57e3750101ef097265e34a130b471f2	Discovery of 49 XXXXY syndrome in a six years young boy allows description of the main clinical characteristics of this disease: hypotrophy, @DISEASE$ anomalies, @PHENOTYPICFEATURE$, delayed speech development and oligophrenia.	false
+bf91e73e5bfa7532ca94e84d711befbf8d2477bd	We report a case of severe HS in a patient with @DISEASE$;13, a very rare cytogenetic anomaly characterized by severe anomalies including dysmorphisms, multiple congenital malformations, heart defects and @PHENOTYPICFEATURE$.	false
+660a2165a341ab07c46a9b155f5ea9b1b6bb541c	@DISEASE$ is an encapsulated nerve sheath tumor that is distinct from @PHENOTYPICFEATURE$.	false
+17d6e135c95c28f2f677f1a773003f6f868cf6ec	Preoperative tests confirmed the presence of a voluminous presacral neoformation that appeared to have a possible medullary origin (@PHENOTYPICFEATURE$ or @DISEASE$).	false
+496ee67b94281be60a979fc390ae58ac56ad82af	We suspected another cause of this lesion - @PHENOTYPICFEATURE$ or facial nerve @DISEASE$.	false
+9829755d9f2b1c6157e6732f10ded79cf8c547b3	One patient had facial @DISEASE$, two had glomus jugulare tumor, and three had @PHENOTYPICFEATURE$.	false
+1e672be44eda16f506681c1ff7c8e83a5a438d83	The most common neoplasms of the posterior skull base, including the CP angle, are @DISEASE$, meningioma, nasopharyngeal carcinoma, @PHENOTYPICFEATURE$ and paraganglioma.	false
+252176314a7e07d2faedd2cd1e64dc80fa5b0914	The postoperative period course and an autopsy data of 68 patients operated on for n. vestibulocochlearis @DISEASE$, parasternal meningioma, @PHENOTYPICFEATURE$.	false
+e78ab503727bab2f6f223767f75892a4987bcc21	Moreover, there were several cases of mesenchymal cell tumors, such as leiomyoma, rhabdomyosarcoma, @PHENOTYPICFEATURE$ and @DISEASE$ confirmed by their special organelles.	false
+5a38b6041d82c0efd87a277213739a0b96562c74	Seizure, spinal @DISEASE$, @PHENOTYPICFEATURE$ and pulmonary stenosis - A rare combination in a patient of Neurofibromatosis 1.	false
+bad400b83b6e836bfb3e319ae4179557df5beda0	Computed tomography scanning will not always distinguish these lesions from the much more common extraaxial @DISEASE$, meningioma, or @PHENOTYPICFEATURE$.	false
+a00801bcca5445e6e53e9761939d51424f34af8f	Midline @PHENOTYPICFEATURE$ @DISEASE$ : a case report.	false
+e5a623b3b33841031f0e14af5d63d4600507c896	Movement Disorder-Childhood Rating Scale (MD-@DISEASE$) is a new tool for assessment of @PHENOTYPICFEATURE$ during developmental age.	false
+4b08232bdd1a64582d983b69256882453911a585	In both @PHENOTYPICFEATURE$ and @DISEASE$, certain changes in the brain have implicated the immune system.	false
+c2a86fe3bbaaefa5499f2d00b815ada15af88705	At presentation, the neonate had both classical findings as well as less reported vascular and @PHENOTYPICFEATURE$ seen in infants with @DISEASE$.	false
+72005e462ae7b4a1a41885b4a11ca5db9e285ee7	Some of the pathognomonic sonographic findings enable diagnosis of a specific congenital syndrome (e.g., ventriculomegaly and intracranial and hepatic calcifications in cytomegalovirus or in toxoplasma; eye and cardiac anomalies in @DISEASE$; @PHENOTYPICFEATURE$ and cerebral anomalies in Varicella Zoster virus).	false
+13e247cc66232967d9c54c6393f985306422ddbe	Movement Disorder-Childhood Rating Scales (MD-@DISEASE$) have been designed in two forms (0-3 and 4-18 years) to accurately evaluate various @PHENOTYPICFEATURE$ in children.	false
+af809e15585dd57739ff7fe63f402488b062ca7e	Several children with @PHENOTYPICFEATURE$ lack antibodies to rubella, as do children with @DISEASE$.	false
+495714b368bdf86e82f7afd5e358071297498e08	We report a case of adolescent @DISEASE$ with @PHENOTYPICFEATURE$.	false
+8483370015455fa3d4abf102343d1eb5af3688e0	In the 1970s, Stella Chess found a high prevalence of @PHENOTYPICFEATURE$ in children with @DISEASE$ (CRS), 200 times that of the general population at the time.	false
+8a098ca81cf2adbef89748aab70ea83838c1c002	In the 1970s, Stella Chess found a high prevalence of @PHENOTYPICFEATURE$ in children with congenital rubella syndrome (@DISEASE$), 200 times that of the general population at the time.	false
+fb9d010409b619e36ebefb292972162ec1609525	Some of the pathognomonic sonographic findings enable diagnosis of a specific congenital syndrome (eg, ventriculomegaly and intracranial and hepatic calcifications in cytomegalovirus, eye and cardiac anomalies in @DISEASE$, @PHENOTYPICFEATURE$ and cerebral anomalies in varicella zoster virus).	false
+ea776348dcfb813fbcbeb3cdde8210e02e517064	Developmental difficulties were suspected in most children with @DISEASE$, including @PHENOTYPICFEATURE$ largely combined with sensory dysfunction.	false
+43644279313221ea7f7cc0128c823bd6fc540aa4	The @DISEASE$ is characterized by proteinuria, hypoalbuminemia and @PHENOTYPICFEATURE$. Hypercholesterolemia is in some cases a risk factor for atherosclerosis in this group of patients.	false
+3535fedba99595a4fba03f44266b3018f0680642	The @DISEASE$ is characterized by proteinuria, @PHENOTYPICFEATURE$ and hypercholesterolemia. Hypercholesterolemia is in some cases a risk factor for atherosclerosis in this group of patients.	false
+7b9d1156553ae38a3384aa1d17b6a1a03e3c1de1	@DISEASE$ is characterised by proteinuria >3.5 g/24h, oedema, @PHENOTYPICFEATURE$ and hyperlipidaemia.	false
+9a47a980ef8e64b0c7cd37b3fa7f1bdd13919de4	@PHENOTYPICFEATURE$ are rarely recognized in association with the @DISEASE$.	false
+11b99f98f93ce580e8c82e7938c581b1dca8d6ca	Multiple injections of puromycin resulted in a production of @DISEASE$ with massive proteinuria, @PHENOTYPICFEATURE$, hypercholesterolemia, ascites and edema.	false
+68eeaef1a080be4c2cd9811046ec7e4496e0552a	Multiple injections of puromycin resulted in a production of @DISEASE$ with massive proteinuria, hypoalbuminemia, @PHENOTYPICFEATURE$, ascites and edema.	false
+327191972e591bcec3993a1e98b567574bcd77e7	@PHENOTYPICFEATURE$ in Egyptian children with @DISEASE$.	false
+e12dfbfc557c76bb3313aeafdb9e211bd11a7de0	All these patients developed @PHENOTYPICFEATURE$ and hypercholesterolemia, and one half manifested a classical @DISEASE$.	false
+0fa05342577f36ca2c3fbe0453b3f36b5ec0d4d5	All these patients developed hypoalbuminemia and @PHENOTYPICFEATURE$, and one half manifested a classical @DISEASE$.	false
+327ff4fac7ad3ad5b569077ebec9e33561e4ae86	@PHENOTYPICFEATURE$ and transcapillary pressures have role in @DISEASE$.	false
+62149e5df768ebdd688f8cc2a766cdc2c7207bde	The major cause of low anion gap in @DISEASE$ is hypoproteinemia especially @PHENOTYPICFEATURE$.	false
+1b3b30affdc5bbb50ab9b34c81f516738999b7cd	It was reported a case of a 36 years old patient, brown, with classical sintoms of @DISEASE$ (proteinuria > 3.5 g/24h, @PHENOTYPICFEATURE$ and hypercholesterolemia), however with hepatosplenic schistosomiasis history 7 years ago and portal hypertension.	false
+ed4a206fb1b90da0a599bbe463e10dba988c403d	It was reported a case of a 36 years old patient, brown, with classical sintoms of @DISEASE$ (proteinuria > 3.5 g/24h, hypoalbuminemia and @PHENOTYPICFEATURE$), however with hepatosplenic schistosomiasis history 7 years ago and portal hypertension.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+8bfefb3eebd99b3d82b6f74df084d40d7efefe89	@DISEASE$ (ENS) is a sporadic neurocutaneous disorder characterized by the combination of epidermal nevi with significant central nervous system, eye, and @PHENOTYPICFEATURE$.	false
+0b9066e320992ceb473a43e069e41cd7cd588442	The @DISEASE$ (ENS) is an unusual neurocutaneous disorder consisting of the combination of an epidermal nevus and a central nervous system (CNS), ophthalmological, and/or @PHENOTYPICFEATURE$.	false
+989f3b8730e49bc58d553da103e5bf6fc3fd53c2	@DISEASE$ encompasses a group of congenital neurocutaneous anomalies characterized by epidermal nevi in association with cerebral, ocular, and @PHENOTYPICFEATURE$.	false
+82a55575564bf92a36a6afb135a44a7deaeb9843	@DISEASE$ is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or @PHENOTYPICFEATURE$.	false
+942d656c8f84b614aee6e943efbe47986612e007	Antineuronal autoantibodies are associated with the @PHENOTYPICFEATURE$ disorder @DISEASE$ (SC) and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) which are characterized by the acute onset of tics and/or obsessive compulsive disorder (OCD).	false
+8ad75aae9bf16161b4096c372a04695041d39094	Distinction of eosinophilic leukaemia from @DISEASE$ by analysis of Wilms' @PHENOTYPICFEATURE$ gene expression.	false
+4284a6a249f59f944647594efa9fb6faa46d2471	Although the patient's eosinophilia defied strict classification as @DISEASE$ (HES), simple @PHENOTYPICFEATURE$-associated eosinophilia, or eosinophilic leukemia, it appeared to be incited by the lung cancer and quickly acquired malignant independence.	false
+828cff34732f055a1d89d592c9871e4b7be69c4d	Regressive aortic valve and infundibular @PHENOTYPICFEATURE$ during @DISEASE$.	false
+c05c57c3f647d22bed21dd52da1312bdb1d1bdd8	We treated a patient with multiple congenital @PHENOTYPICFEATURE$ and facial dysmorphisms consistent with @DISEASE$.	false
+bceb7309e2fa619deac97af5b09aa42efef873f7	@DISEASE$ consists of @PHENOTYPICFEATURE$ with multiple joint dislocations and a characteristic facies.	false
+a3f5078116c0c98cee041f8932b8252bcc0ba4ac	This variant is associated with @DISEASE$, a @PHENOTYPICFEATURE$ condition with a wide range of phenotypic variability that usually includes congenital joint dislocations.	false
+13bf800e3d42fed51d3c4ae5c02ddb7becb2e7ad	This variant is associated with @DISEASE$, a skeletal dysplasia condition with a wide range of phenotypic variability that usually includes congenital @PHENOTYPICFEATURE$.	false
+585456cca1cd45aa7f92b08ebd039c4f9300019f	@DISEASE$ is characterized by multiple congenital @PHENOTYPICFEATURE$, typical skeletal defects and facial dysmorphism.	false
+fa274189d3328fb1ecd0d470b064eb14a1f1812b	@DISEASE$ is an autosomal dominant @PHENOTYPICFEATURE$ characterized by large joint dislocations and craniofacial dysmorphism.	false
+5fa9106abe6aaf92012f3141658e0dfff3f998e5	@DISEASE$ is characterized by multiple congenital @PHENOTYPICFEATURE$ and a characteristic flattened facial appearance.	false
+796715ab8700d79acf2d76142189050a6068adcc	@DISEASE$ (LS) is a @PHENOTYPICFEATURE$ (osteochondrodysplasia) in which multiple dislocations of the large joints are the major feature.	false
+b339a730b88fa1455cd52f76b1ceed0b137c0c92	@DISEASE$ is characterized by multiple congenital @PHENOTYPICFEATURE$ and flattened facies.	false
+4a4330da54583e8fef3215bbc9018f0c18223039	The @DISEASE$ consists of a @PHENOTYPICFEATURE$ with multiple joint dislocations and a characteristic facies.	false
+5fad7b07480f3f88c60076ab235264749aa42d3d	@DISEASE$ is a rare genetic @PHENOTYPICFEATURE$ belonging to the group of actin-binding filamin B associated diseases.	false
+513b1413a64dfa95c8c0a34724502e105c60f468	We describe the presentation and six-year follow up of a child with @DISEASE$ due to a de novo @PHENOTYPICFEATURE$ in the skeletal muscle ?-actin gene (ACTA1) characterized by dramatic improvement during the early childhood years.	false
+050e46ec84c084260569ceea1dda3fe5e07ed21c	Hypouricemia occurred in three patients with @DISEASE$ and 18 patients with AIDS and was associated with @PHENOTYPICFEATURE$ in all 12 hypouricemic and 14 of 28 nonhypouricemic patients who had cranial computed tomography (CT) scans.	false
+497047cb49c98bf6416d4653cf02ade97c0e8391	We here discussed medical practice after adolescence in child neurology for these patients with myopathies, such as @PHENOTYPICFEATURE$, Pompe disease and @DISEASE$.	false
+561bd7ce69d441e96d99edf75676a5712d1e3f9f	@PHENOTYPICFEATURE$ and @DISEASE$ are chronic progressive disorders for which no causal therapy exists so far.	false
+68c8cffb4815ae2507c627e6c1e787edf69de9a0	The role of operative management of "symptomatic" varicose veins in patients with lower extremity @PHENOTYPICFEATURE$ or @DISEASE$ is controversial.	false
+322ad29f088f6ffd9e1df93f9a3aaeed0903fc07	Clinical examination showed a restricted and painful range of motion of the right knee and distinctive obeseness on the trunk and the extremities including a @DISEASE$/@PHENOTYPICFEATURE$.	false
+de1af34aab8b3d6f543584796778671a071e8589	On the second day of ciprofloxacin treatment, he developed @PHENOTYPICFEATURE$, nausea, vomiting and increased serum levels of liver transaminases, aspartate aminotransferase (AST), and alanine aminotransferase (@DISEASE$).	false
+95e8ed778d55ff7afb879f3e832d3de8ba3b2e1f	Amongst the total number of 1922 admitted patients, 148 had history of nausea, @PHENOTYPICFEATURE$ and jaundice and raised serum bilirubin with raised hepatic transaminases (@DISEASE$), were screened for HBV (hepatitis B virus), HCV (hepatitis C virus) and subsequently for HEV (hepatitis E virus).	false
+46626b7401ad6b46223ba4320bcede794b17c397	Postoperative flatus-pass day, stool-pass day, nausea, @PHENOTYPICFEATURE$, admission days, immediate postoperative (POD#0) and POD#1, 3, 5, 7 profiles of albumin, prothrombin time (PT) INR, total bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (@DISEASE$), white blood cell (WBC), and POD#1, 3, 5, 7 profiles of C-reactive protein (CRP), and postoperative complications cases were compared between ED group and CD group.	false
+6dd5731d3d5382c6b22e15137e19b2b878f728fd	Thus, lipomatous or fibrolipomatous hamartoma should be considered as a possible diagnosis whenever @DISEASE$ @PHENOTYPICFEATURE$ are encountered.	false
+d09fe665617e76fdfbc98f92d6b3e36963529257	The patient had severe headaches, nausea, @PHENOTYPICFEATURE$, visual disturbance and mental @DISEASE$ and the computed tomography (CT) scans revealed intratumoral and intraventricular bleeding.	false
+c03857cf499137d80c77c0773e6336e355ba1848	Late complications may include speech abnormalities, ataxia, @PHENOTYPICFEATURE$, growth delay, bone @DISEASE$ and ovarian failure.	false
+8b45262bb8fa459f12ec31d9efa36d195d46e7a2	Gastrointestinal side effects (e.g., @PHENOTYPICFEATURE$, flatulence, and diarrhea) and serum transaminase elevations (e.g., aspartate aminotransferase [AST] and alanine aminotransferase [@DISEASE$] were more frequently reported in the acarbose-treated patients than in the placebo-treated control patients.	false
+176053348abbe9fbcb88d4ef8eac726d35abf584	Mucosal bleeding, anorexia, diarrhea, @PHENOTYPICFEATURE$, nausea or vomiting, lethargy, rash, clinical fluid accumulation, hepatomegaly, nosocomial infection, leukopenia, higher neutrophil count, higher hematocrit, higher alanine transaminase (@DISEASE$) and aspartate transaminase (AST), higher creatinine, lower protein and prolonged activated partial thromboplastin time (APTT) were significantly associated with prolonged fever but not platelet count or prothrombin time (PT).	false
+ff5d006a7e307167d5446b80ee37a56be3b6d338	Mucosal bleeding, anorexia, diarrhea, abdominal pain, nausea or @PHENOTYPICFEATURE$, lethargy, rash, clinical fluid accumulation, hepatomegaly, nosocomial infection, leukopenia, higher neutrophil count, higher hematocrit, higher alanine transaminase (@DISEASE$) and aspartate transaminase (AST), higher creatinine, lower protein and prolonged activated partial thromboplastin time (APTT) were significantly associated with prolonged fever but not platelet count or prothrombin time (PT).	false
+62af7100f59963b3cbe6e7ea99fe7e13fbecd70a	Transgenic animal with specific @DISEASE$ of lung cancer-related molecules have also been introduced to clarify the molecular mechanisms of NNK in the pathogenesis and development of @PHENOTYPICFEATURE$.	false
+a38a0fbf74c4985c760cea24463d9059821aeaad	The side effects associated with vincristine during the treatment included neuropathy, @PHENOTYPICFEATURE$, loss of appetite and mild elevations of aspartate aminotransferase (AST) and alanine aminotransferase (@DISEASE$).	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+f309f848ad4b85754d105ecfa40514c5068ba8ee	Two boys with @DISEASE$ and hepatic @PHENOTYPICFEATURE$.	false
+6f38ac0b5db6514da2fb4c4fffab749581295797	@DISEASE$, FRAXE mental retardation, Progressive @PHENOTYPICFEATURE$ epilepsy Type I, and Friedreich ataxia are members of a larger group of genetic disorders known as the Repeat Expansion Diseases.	false
+5beea50579453b45f669ae0435375979051fe1b3	Fragile X expression in @DISEASE$, intellectually normal individuals, and @PHENOTYPICFEATURE$, interpreted by a viral hypothesis.	false
+920473c63bdb9d7227c889f1af0261d7d2d10e06	A family with two cases of melanocytic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+c58eb5267d282bfe3e3550f3e43b567ed4ad2753	Extensive pathological examination of this patient and his affected brother revealed no evidence for specific abnormalities relevant to @DISEASE$; @PHENOTYPICFEATURE$, which has been reported in this disorder, was not evident in either patient.	false
+4f62bf4e573adbdd53f68b45dbf27167fe76c2bd	Therapeutic challenges in treating patients with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f0661c4446ad1f12a7c2133813e51e188187644b	Expansions in tandem repeats are known to cause many monogenic disorders, which mainly affect the nervous system, including Huntington's disease, various spinocerebellar ataxias, other polyglutamine diseases, Friedreich ataxia, @DISEASE$, @PHENOTYPICFEATURE$ epilepsy, polyalanine disorders, and myotonic dystrophy.	false
+ddb26b387e71afe1d2c64896abb2bcd20b47a15f	The most typical orofacial characteristics associated with children suffering from @DISEASE$ are mandibular prominence, ogival, and @PHENOTYPICFEATURE$.	false
+56bd53d4b8f5a3a230c1178d6c238e64587494d1	A decreased risk of cancer has been reported in patients with @DISEASE$ while a patient-case with FXS showed an unusual decrease of @PHENOTYPICFEATURE$ brain invasiveness.	false
+1e69ce39d45d95cbd3d8cf03d609d2170fa703b4	A decreased risk of cancer has been reported in patients with FXS while a patient-case with @DISEASE$ showed an unusual decrease of @PHENOTYPICFEATURE$ brain invasiveness.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+b16488c0b5a4ad92936e6248f486b3af287734cd	These results suggested that the burning, stinging, erythema, and @PHENOTYPICFEATURE$ experienced by patients with erythropoietic protoporphyria following sun exposure, and the lack of such findings in patients with @DISEASE$, may be explained, at least in part, by the differential effects of PP and URO on mast cells.	false
+0316095aafe3f2d749c96ba70b31d98d2fac74ef	We report a case of keratinocytic epidermal nevus syndrome that includes a @DISEASE$, bone dysplasia, and @PHENOTYPICFEATURE$ with elevated fibroblast growth factor 23 (FGF23) levels associated with postzygotic HRAS mutation.	false
+f1c623a0672aff278d232b904b66e7e7c0aa9f4f	The unregulated emotions sub-scale of the @DISEASE$ was associated with lower @PHENOTYPICFEATURE$ frequency.	false
+6ff73145c966acdb5c84579dc3209ab422ec72f4	Extrapyramidal motor signs occurred in all forms of @PHENOTYPICFEATURE$, but frequency and type of @DISEASE$ varied between genetically and clinically defined subtypes.	false
+526333414a35817d75363d7d643102b903402159	Among these diseases, patients with @DISEASE$ or FTNS develop progressive nephritis and hearing @PHENOTYPICFEATURE$.	false
+67fd234f05b21380219643dd0310b4cd2b26aea8	Extrapyramidal motor signs (@DISEASE$) are well-known symptoms of degenerative @PHENOTYPICFEATURE$.	false
+753247da8e9cec8e6def229e37c5b754d9da5878	Diagnostic and prognostic impact of @DISEASE$ in subtypes of @PHENOTYPICFEATURE$ was analyzed by Kaplan-Meier plots.	false
+9263e6d1351f47005cd4628f68aa1fc543a87fed	However, little is known about frequency and appearance of @DISEASE$ in subtypes of @PHENOTYPICFEATURE$.	false
+39c96a465d6ac941a5296cc084183e44a018e193	It is characterized by the association of a progressive spondylo-@DISEASE$-metaphyseal dysplasia and @PHENOTYPICFEATURE$ ranging from mild to severe.	false
+ee009d17c645962250282b435fbc41a486ecc6c3	The most common types of @DISEASE$ presented in the patient group were hypomimia ([facial mask] 60 percent), difficulty in talking (53.66 percent), bradykinesia (51.4 percent), postural instability (47.33 percent), @PHENOTYPICFEATURE$ (34.66), and rigidity (26 percent), respectively.	false
+47861fb9d174f39bd6c8fe450c1e31ee68ba65d7	Dyggve Melchior Clausen syndrome is a rare autosomal recessive disorder, characterized by progressive spondylo @DISEASE$ metaphyseal dysplasia associated with @PHENOTYPICFEATURE$.	false
+20305dca7ce2c6d23bd9bd6742cf36a7006e0caf	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with @PHENOTYPICFEATURE$, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability.	false
+322d9c944ba93de8e4c3e4b6e05c44ce521aae3e	Dyggve-Melchior-Clausen syndrome is a progressive spondylo-@DISEASE$-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and @PHENOTYPICFEATURE$.	false
+377d34a3c17b9832bd3ceea9389426f8caebaac9	The most frequenly involved diseases include thyrotoxicosis, hypothyroidism, the auto-immune disorders of thyroid, @DISEASE$, Addison disease, acromegaly, androgen-dependent disorders, @PHENOTYPICFEATURE$, hypoparathyroidism, pseudohypoparathyroidism and diabetes mellitus.	false
+522b2ab3702043189d07cad940b22de45fbea039	The most frequenly involved diseases include thyrotoxicosis, hypothyroidism, the auto-immune disorders of thyroid, @DISEASE$, Addison disease, acromegaly, androgen-dependent disorders, hypopituitarism, @PHENOTYPICFEATURE$, pseudohypoparathyroidism and diabetes mellitus.	false
+2de5b59bfbc47284282f84181fd634f22c45ff7e	Humoral manifestations include polycythemia, @PHENOTYPICFEATURE$, galactorrhea and @DISEASE$.	false
+59f7f935838d694adff82ce52dce02a10b24a87a	Myelolipoma has been found in patients affected by @DISEASE$, @PHENOTYPICFEATURE$, Addison's disease, virilization.	false
+054efeffa3e38dbfecc1b170ee62fb23bca5a501	Selective @PHENOTYPICFEATURE$ with deficiency of anterior @DISEASE$: a case report.	false
+7beddd32c2c1df9b58158315c360eb6242137e6c	The patient survived for 44 months after adrenalectomy with no signs of recurrent @PHENOTYPICFEATURE$ or @DISEASE$.	false
+1e25d44b8d165978208130ec5d1dc51277e39eb6	Common metabolic conditions include hyponatremia, @PHENOTYPICFEATURE$, hypoglycemia, and @DISEASE$.	false
+9479b2c9d55bf289289cc9757c38dc9ba4986986	These entities include @DISEASE$, hypercalcemia, @PHENOTYPICFEATURE$, polycythemia, hypertension, and inappropriate ADH or HCG production.	false
+d7ad21a5a88ff2c4f03a32b0be309a7d3ffafce7	These entities include @DISEASE$, @PHENOTYPICFEATURE$, hyperglycemia, polycythemia, hypertension, and inappropriate ADH or HCG production.	false
+cd7e3ae215aebc7800b9d6d336629e30d91cf0c6	For endocrine abnormality, 14 patients had isolated @PHENOTYPICFEATURE$, five patients had isolated Cushing syndrome, 10 patients had precocious puberty plus @DISEASE$, and five patients did not have any symptoms.	false
+b392a253d47644797613d49515de41973825c42b	For endocrine abnormality, 14 patients had isolated @PHENOTYPICFEATURE$, five patients had isolated @DISEASE$, 10 patients had precocious puberty plus Cushing syndrome, and five patients did not have any symptoms.	false
+080bedc8701531aa18e92251f4018a59be2e9387	Skin diseases with underlying endocrine pathology include: thyrotoxicosis; hypothyroidism; @DISEASE$; Addison disease; acromegaly; hyperandrogenism; @PHENOTYPICFEATURE$; primary hyperparathyroidism; hypoparathyroidism; pseudohypoparathyroidism and manifestations of diabetes mellitus.	false
+ddeb7d2c46278a9de5332cc6d442d540e2d26137	Skin diseases with underlying endocrine pathology include: thyrotoxicosis; hypothyroidism; @DISEASE$; Addison disease; acromegaly; hyperandrogenism; hypopituitarism; primary hyperparathyroidism; @PHENOTYPICFEATURE$; pseudohypoparathyroidism and manifestations of diabetes mellitus.	false
+32fa18577f6e308086484db3274035ea52c5dab2	@PHENOTYPICFEATURE$ and @DISEASE$ accompanied by normal blood pressure in Sprague-Dawley rats.	false
+fff4d83504de18da19e1be1fd7942567f2b47216	Dermatofibrosarcoma protuberans (@DISEASE$) is an uncommon, locally aggressive, soft tissue @PHENOTYPICFEATURE$.	false
+d4fe7ae40ff929bd7e132b4928215bc0aa915747	@DISEASE$ (DFSP) is an uncommon, locally aggressive, soft tissue @PHENOTYPICFEATURE$.	false
+9372b34ed757720802073b287c2abbd781528ea6	@DISEASE$: an unusual @PHENOTYPICFEATURE$.	false
+74155823414caeb0def4b383b181c9caab7fda6b	Dermatofibrosarcoma protuberans (@DISEASE$) is a slowgrowing, locally invasive @PHENOTYPICFEATURE$ of the dermis.	false
+7202e7dd3babcee24db3af81e349772866811e66	@DISEASE$ (DFSP) is a slowgrowing, locally invasive @PHENOTYPICFEATURE$ of the dermis.	false
+52ce7eb1d4dbff05e3ee4694d00f575a1ff8cc70	Dermatofibrosarcoma protuberans (DFSP) is an uncommon cutaneous @PHENOTYPICFEATURE$, usually low grade, except for the fibrosarcomatous variant (@DISEASE$-FS).	false
+62f4df317c1df1713535b1415d8ca6bd2d16d3d4	Dermatofibrosarcoma protuberans (@DISEASE$) is an uncommon cutaneous @PHENOTYPICFEATURE$, usually low grade, except for the fibrosarcomatous variant (DFSP-FS).	false
+dacdd0d4012ab3b2e948318d9fe010293c62f1ad	@DISEASE$ (DFSP) is an uncommon cutaneous @PHENOTYPICFEATURE$, usually low grade, except for the fibrosarcomatous variant (DFSP-FS).	false
+3592d4a570a601f5938e62f716144b90da45d055	@DISEASE$ with fibrosarcomatous transformation (DFSP-FS) is a higher grade @PHENOTYPICFEATURE$ arising from dermatofibrosarcoma protuberans (DFSP).	false
+017dbfa21119c9c242a7b1f460b2c0a23f1dd63a	Dermatofibrosarcoma protuberans with fibrosarcomatous transformation (DFSP-FS) is a higher grade @PHENOTYPICFEATURE$ arising from @DISEASE$ (DFSP).	false
+3c3bad5cc75ca91647489f86d575c7b1bbf2961d	Dermatofibrosarcoma protuberans with fibrosarcomatous transformation (DFSP-FS) is a higher grade @PHENOTYPICFEATURE$ arising from dermatofibrosarcoma protuberans (@DISEASE$).	false
+d4589b514dc5b2f1584fb5fadee9089b4de1802a	Dermatofibrosarcoma protuberans with fibrosarcomatous transformation (@DISEASE$-FS) is a higher grade @PHENOTYPICFEATURE$ arising from dermatofibrosarcoma protuberans (DFSP).	false
+93aa4457bf9f5fca551570a0602c502070111d40	@DISEASE$ (DFSP) is a rare indolent cutaneous @PHENOTYPICFEATURE$.	false
+cae7f8c8cc2931917ba2b7d436da32a7088b70d2	Dermatofibrosarcoma protuberans (@DISEASE$) is a rare indolent cutaneous @PHENOTYPICFEATURE$.	false
+4bea98468fcf05b0dfa600eb670928263ca5945a	The dermatofibrosarcoma protuberans (@DISEASE$) is a rare but not exceptional @PHENOTYPICFEATURE$.	false
+6f47e01a3158beb4ce59e85b60127edc7148b6bf	The @DISEASE$ (DFSP) is a rare but not exceptional @PHENOTYPICFEATURE$.	false
+16003bf9b8871a9ad3eef524b43fdc45df377613	Dermatofibrosarcoma protuberans (@DISEASE$) is a rare cutaneous @PHENOTYPICFEATURE$.	false
+3a63f99f956cb6d5dbebb1cd4e31d61d97eaad8e	@DISEASE$ (DFSP) is a rare cutaneous @PHENOTYPICFEATURE$.	false
+e075f133f1077cbbeea7373cacc33fbc97f165aa	@DISEASE$ (DFSP) is a low-grade @PHENOTYPICFEATURE$ with rare metastasis.	false
+ee4c89f059d38186205650704f1be7e00e007eea	Dermatofibrosarcoma protuberans (@DISEASE$) is a low-grade @PHENOTYPICFEATURE$ with rare metastasis.	false
+82cc1d1ed2274618d5919f8b70bbab1a2705569c	Dermatofibrosarcoma protuberans (@DISEASE$) is a rare cutaneous @PHENOTYPICFEATURE$ with intermediate malignancy.	false
+78045742bfe05619a6973e72b5de24ccc27e1e8b	@DISEASE$ (DFSP) is a rare cutaneous @PHENOTYPICFEATURE$ with intermediate malignancy.	false
+670d4e0511a927edeee8d34dbe60d55b4eda0f2b	@DISEASE$ is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild @PHENOTYPICFEATURE$, and characteristic x ray abnormalities of the hands.	false
+042510a5bfa02c2b1e1a1a14edc059d6c658ca2d	@DISEASE$ is a rare bone dysplasia characterised by @PHENOTYPICFEATURE$, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands.	false
+b818dec8d6f56646c533e934765e54de2437f316	The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and @DISEASE$ (AD) all characterized by @PHENOTYPICFEATURE$, short hands and stiff joints.	false
+777919a683f0182dd321ab54f6739dfb07dbb7ca	Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and @DISEASE$ (AD) are clinically distinct entities within this group of disorders and are characterized by @PHENOTYPICFEATURE$, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities.	false
+129b8d6d7815bb5d4116f33f91ce2fe4ca4d4286	@DISEASE$ is a skeletal dysplasia that is characterized by @PHENOTYPICFEATURE$, short hands and feet, typical facial dysmorphism, normal mental development, and characteristic hand radiology.	false
+d46a0fa6d43e3e87eff37800433362f6d9e74a33	@DISEASE$ is a skeletal dysplasia that is characterized by short stature, short hands and feet, typical @PHENOTYPICFEATURE$, normal mental development, and characteristic hand radiology.	false
+a77592bc26c37cbd5dfd2c41568f893629eaba2e	@DISEASE$ (AD) is an autosomal dominant disorder characterized by @PHENOTYPICFEATURE$, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age.	false
+d74aa1565d6e634a9385bce07558acf72247c0f3	@DISEASE$ (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by @PHENOTYPICFEATURE$, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress.	false
+cb96505453619365e3dc9fda98ac8bac2ffee716	Geleophysic dysplasia (GD), @DISEASE$ (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as @PHENOTYPICFEATURE$, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by progressive cardiac valvular thickening and WMS distinct by microspherophakia and ectopia lentis.	false
+f40e41020f85519bb7ce49cb63eab3394c640b52	The clinical and radiological concordance and the differential diagnosis, mainly with @DISEASE$, allow the characterization of a distinctive osteochondrodysplasia probably due to an autosomal dominant @PHENOTYPICFEATURE$.	false
+dfda9085de6eb206d76ccb2ed0086928f098b027	Our results demonstrate that subjects who developed @PHENOTYPICFEATURE$ while staying on treatment with ddl, ddC and d4T had acetyl-@DISEASE$.	false
+63a53d4a603af3714991c7dfae18545aff8c4c24	The treatment of the @DISEASE$, collagenoses (rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis/@PHENOTYPICFEATURE$, matosus, progressive systemic sclerosis/scleroderma, dermatomyositis/polymyositis), necrotizing angiitis (periarteritis nodosa, Wegener's granulomatosis) and idiopathic pulmonary fibrosis is reviewed.	false
+ec9d255bfc8ddd662bbe05f84f2cab7757fc84b1	@DISEASE$ presenting as early-onset @PHENOTYPICFEATURE$ in an adult.	false
+8b0caafcde638f6b74a5fd5c0b68b59ba96beac4	@DISEASE$ (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, @PHENOTYPICFEATURE$, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes.	false
+6155d115de729804d6367f6d700f589736157945	[XY type @PHENOTYPICFEATURE$, @DISEASE$ and variants].	false
+92eb1a90e1e7b505bb1d80ecc86d081af80fa067	Finally, targeted at specialty practitioners, more detailed analyses of specific but more unusual adverse effects ascribed to statins are updated including evidence regarding new-onset diabetes, cognitive dysfunction, @PHENOTYPICFEATURE$, and the rare but important @DISEASE$.	false
+1359820354dce2c38d85a273c78c0dd5ef8adcb3	The preoperative and postoperative PVEP in 79 eyes of 45 patients with three types of congenital @DISEASE$ lamellar cataract, nuclear cataract and total @PHENOTYPICFEATURE$ was studied.	false
+39e2ad7e2d2fe50146bd207dee61cf87a4e0bdff	These findings demonstrate that DNA ploidy as well as c-erbB-2 oncoprotein overexpression are valuable prognostic factors in patients with adenocarcinoma of @DISEASE$ after complete @PHENOTYPICFEATURE$ resection.	false
+9f32772b12df272056d74c1235fc7c45ff0787e5	Methylation of cysteine dioxygenase type 1 (CDO1) gene, a @PHENOTYPICFEATURE$ suppressor gene, has been studied in various cancers; however, there is no information regarding @DISEASE$ cancer.	false
+aaa75d7265c70bc1184ed7c3c0485f16492dba73	In the first experiment, two groups of 12 mice each were inoculated with @DISEASE$ @PHENOTYPICFEATURE$ cells and received either tap water or a 3% alpha-difluoromethylornithine solution as drinking water.	false
+ede4de48244305db7e5b132b172a8cc8494466e3	Ten of 17 patients in the @DISEASE$ cancer group had @PHENOTYPICFEATURE$ limited to the mucosa and submucosa only.	false
+71fce57299aab03d20f6adde007232c85fbbffd1	Some of these limitations include the fact that the background non-goblet epithelium in most patients with @DISEASE$ is biologically intestinalized and contains molecular abnormalities similar to goblet cell CLE, goblet cells fluctuate with time and decrease in number with progression of @PHENOTYPICFEATURE$, and pathologists have problems with interpretation, and distinction, of goblet cells from other types of cells in the esophagus.	false
+2a3153c1b52e4a5b18ecb336378897d2d3786a22	Deficiency of the human short stature homeobox-containing gene (SHOX) has been identified in several disorders characterized by reduced height and @PHENOTYPICFEATURE$ such as Turner syndrome, L?ri-Weill dyschondrosteosis and @DISEASE$ as well as isolated short stature.	false
+290ca8ec45bcb5dee9bca3d266e003677f241d08	The @PHENOTYPICFEATURE$ in the heterozygotes are usually inconsistent and often innocuous, but they have a number of important implications: (a) identification of heterozygotes for family screening or for genetic counseling; (b) identification of heterozygotes for conventional and molecular linkage studies; (c) problems with pedigree analysis; variable expression of an autosomal dominant trait versus heterozygous manifestations in an AR disorder; (d) problems with diagnosis, e. g., does a congenital Madelung anomaly always represent the heterozygous form of @DISEASE$?	false
+300074a9eef3e4587e22e7e17d937ed343d100ff	These findings include polyhydramnios, oligohydramnios, growth retardation, fetal effusions, @DISEASE$, craniofacial defects, @PHENOTYPICFEATURE$, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects.	false
+718ced4ff125213d4de015a7b49201b949c54433	These findings include polyhydramnios, oligohydramnios, @PHENOTYPICFEATURE$, fetal effusions, @DISEASE$, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects.	false
+79bb3159fa0476d5d717324c8d69d4738d4775b9	Odds ratios for @DISEASE$, limb deficiencies, oral cleft defects, and @PHENOTYPICFEATURE$ were estimated using mixed-effects models for logistic regression.	false
+9cfe21e41500e3cc3c10664acc282c54c5cd06f5	Odds ratios for @DISEASE$, limb deficiencies, @PHENOTYPICFEATURE$ defects, and heart defects were estimated using mixed-effects models for logistic regression.	false
+053fb35f039072d311d96c8c89eec2656a44c705	The geographical distribution of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b252db36b362b52586b527dbfe9e81997baae6a4	Logistic regression, adjusted for maternal and infant covariates, was used to estimate associations with exposure tertiles for congenital heart defects (CHDs), @DISEASE$ (NTDs), @PHENOTYPICFEATURE$, preterm birth, and term low birth weight.	false
+5995ece9a610dd00443bd4e50810057362437bf5	Logistic regression, adjusted for maternal and infant covariates, was used to estimate associations with exposure tertiles for @PHENOTYPICFEATURE$ (CHDs), @DISEASE$ (NTDs), oral clefts, preterm birth, and term low birth weight.	false
+89864344d7731e9fe28fc6d3e84bbf2e9ff6be6b	The signals from the literature (@PHENOTYPICFEATURE$, oral clefts, @DISEASE$ and hypospadias) were not confirmed.	false
+e2a13f04bb261defaca3f4c3f32f8d1f60fdcd90	The signals from the literature (congenital heart defects, @PHENOTYPICFEATURE$, @DISEASE$ and hypospadias) were not confirmed.	false
+81422f350dc04239df62065c200bde84164af1a3	The strongest evidence was available for @DISEASE$, congenital heart defects, and @PHENOTYPICFEATURE$, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester.	false
+817efbe05aa0bef024ab6bd0875b434485d5c3f3	The strongest evidence was available for @DISEASE$, @PHENOTYPICFEATURE$, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester.	false
+43139e46a99d7df71e8b07304c4508174bb5450b	We aimed to evaluate whether residence near natural gas wells is associated with critical congenital heart defects (CCHD), neural tube defects (@DISEASE$), and @PHENOTYPICFEATURE$ in Oklahoma, the third highest natural gas producing state in the US.	false
+0f3806e1c7821973620fc23eb53fd131009d7c9e	We aimed to evaluate whether residence near natural gas wells is associated with critical @PHENOTYPICFEATURE$ (CCHD), neural tube defects (@DISEASE$), and oral clefts in Oklahoma, the third highest natural gas producing state in the US.	false
+ac05157454733d6f760600156281ec3fda784171	We aimed to evaluate whether residence near natural gas wells is associated with critical @PHENOTYPICFEATURE$ (CCHD), @DISEASE$ (NTD), and oral clefts in Oklahoma, the third highest natural gas producing state in the US.	false
+81f50793b4ee358078a65bc054bb7937818f9216	We aimed to evaluate whether residence near natural gas wells is associated with critical congenital heart defects (CCHD), @DISEASE$ (NTD), and @PHENOTYPICFEATURE$ in Oklahoma, the third highest natural gas producing state in the US.	false
+1fd6a10074ee426b1df48f2566e237202f008102	They were @DISEASE$, @PHENOTYPICFEATURE$ (OC), and Down syndrome (DS).	false
+33d2c77404b00faaf873431afc2966c2be336d32	Prevention for @DISEASE$, neonatal @PHENOTYPICFEATURE$ and listeriosis should be performed for all women.	false
+e25349021034119d1a8ae8fbbf81e17f2da3dd65	Prior @PHENOTYPICFEATURE$, prior elective termination, interpregnancy interval, and risk of @DISEASE$.	false
+e8cd6e61d78cde96cc8fb263288ce92ce38f1818	Defects in the POR gene can cause POR deficiency (@DISEASE$), manifested clinically by disordered steroidogenesis, @PHENOTYPICFEATURE$ and skeletal malformations.	false
+35c5ee05cc60b34f043dd2ae165ddca0f9493382	Defects in the POR gene can cause @DISEASE$ (PORD), manifested clinically by disordered steroidogenesis, @PHENOTYPICFEATURE$ and skeletal malformations.	false
+220a1ccf061c32629ebc130c69bb19fc98d69bfb	As cardiomyopathy rarely co-exists with cystinosis, we believe that this case represents pregnancy-associated cardiomyopathy rather than direct involvement by her cystinosis, particularly as a minority of pregnant patients with associated @PHENOTYPICFEATURE$ develop heart failure early before the conventional period for @DISEASE$.	false
+797951b1e1791ccf3a27cae24e739b58c9039a91	@PHENOTYPICFEATURE$, intellectual disability, and behavioral disturbances are the main clinical manifestations of @DISEASE$.	false
+3e962b84cc6505e6e6af2d9b51eb350f920e91a2	@DISEASE$ (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and @PHENOTYPICFEATURE$, the latter of which can include autism spectrum disorder.	false
+b61541fe22b8b59f1c232560afdf2956c8c32609	@DISEASE$ (PTLS) is a rare genetic disorder associated with @PHENOTYPICFEATURE$ and heart defects.	false
+9499249849570a06c0a50de125b244cf6721447a	These encephalopathies include a neuropsychiatric disorder associated with hypothyroidism @DISEASE$ myxedema @PHENOTYPICFEATURE$.	false
+ab42583332600b2c42ef11e27020d5c6ec086cf6	Frataxin deficiency causes a neurodegenerative disorder @DISEASE$ Friedreich's @PHENOTYPICFEATURE$ in humans.	false
+4561021dde55610c600ec1e240d30693f2c37af3	Carriers of premutation CGG expansions in the fragile X @PHENOTYPICFEATURE$ 1 (FMR1) gene are at higher risk of developing a late-onset neurodegenerative disorder @DISEASE$ Fragile X-associated tremor ataxia syndrome (FXTAS).	false
+33199f7f89187d480dae89604c24e84d427c5692	I-metaiodobenzylguanidine (MIBG) is used for @PHENOTYPICFEATURE$ or @DISEASE$ (LBD).	false
+f47340e99d4f1933ded267889316dd241b77b1b3	@DISEASE$ and internal frontal @PHENOTYPICFEATURE$ have a frequency of 5% and 8% respectively.	false
+50a013bc8042c1dc33ea429863b4bf24c156a66d	[Pelvic and skeletal @PHENOTYPICFEATURE$ (@DISEASE$, Forestier disease)].	false
+9844bf7862d8dfebd489c4d3025a2fe638d03fdd	[Association between @DISEASE$ and frontalis interna @PHENOTYPICFEATURE$].	false
+ebdb1b7971561aba6adb15277e63b1493ffc8382	However, it can lead to development of @PHENOTYPICFEATURE$ lesions in @DISEASE$ patients.	false
+6518bd38e37075ab713252c414eb9fb3a2fb1d1d	Recently, Forestier's disease (vertebral ankylosing @PHENOTYPICFEATURE$ or @DISEASE$) has also been identified as a cause of dysphagia.	false
+c0fe20a5a1e03480c4a82ad08348a8796e90b93d	[Dysphagia in @DISEASE$ (vertebral ankylosing @PHENOTYPICFEATURE$)].	false
+804c45cab270067ad621fa61770e67d46db556fc	The association of HL-A B27 with @DISEASE$ (vertebral ankylosing @PHENOTYPICFEATURE$).	false
+86c1990d96779d0dfe6f77977c4aa1798f059924	It is also known as diffuse idiopathic skeletal hyperostosis (@DISEASE$) syndrome or vertebral ankylosing @PHENOTYPICFEATURE$.	false
+b8f47086a8bdb786c3dee4a370ff2adbd4bdd992	It is also known as @DISEASE$ (DISH) syndrome or vertebral ankylosing @PHENOTYPICFEATURE$.	false
+9cfdbe90a562e749aa005f7cd3118a0b3a83786e	Objective?@DISEASE$ (DISH) or Forestier disease involves @PHENOTYPICFEATURE$ of the spinal column.	false
+18aee672518135a664e90c933d88094040eb3340	Costal @PHENOTYPICFEATURE$ occurring with vertebral disorders, although not well known, has been described in patients with @DISEASE$ (DISH).	false
+d93d488b4b0036ccb3d6796c1ddce8ffc7d73dfa	This paper presented a 28-year-old female with systemic sclerosis who developed @PHENOTYPICFEATURE$ renal crisis and @DISEASE$ following clomiphene administration.	false
+ff64d0b50f5f016d2aa0c3d6e7818e624e22afe6	@PHENOTYPICFEATURE$ renal crisis and @DISEASE$ related to the use of clomiphene in a patient with scleroderma.	false
+52fe8810a9951ce1ac39b584f216b517552a1aa6	Composite pheochromocytoma/paraganglioma is a rare tumor with elements of pheochromocytoma/@DISEASE$ and neurogenic @PHENOTYPICFEATURE$.	false
+78709a09ac6dffe349ce39dd5b1fdac0545431d5	Composite pheochromocytoma/@DISEASE$ is a rare tumor with elements of pheochromocytoma/paraganglioma and neurogenic @PHENOTYPICFEATURE$.	false
+20a25b6257065e35e86aed47d932d27ab317500b	Composite pheochromocytoma/paraganglioma is a rare @PHENOTYPICFEATURE$ with elements of pheochromocytoma/@DISEASE$ and neurogenic tumor.	false
+110dc908b22becc10075c37e15df9c8f4fe45ffa	Composite pheochromocytoma/@DISEASE$ is a rare @PHENOTYPICFEATURE$ with elements of pheochromocytoma/paraganglioma and neurogenic tumor.	false
+b848f9de912c9bc35d63c9d1405b5da3889a3ce9	@DISEASE$: a potentially challenging @PHENOTYPICFEATURE$.	false
+39c41cbcd0566cb70b4efbda4aff80fbb1d6b628	Laryngeal @DISEASE$ are rare neuroendocrine @PHENOTYPICFEATURE$.	false
+a17f0aa79529c1122ce57c3e033a81c7a679f440	Retroperitoneal @DISEASE$ presenting with @PHENOTYPICFEATURE$: findings on computed tomography with pathologic correlation.	false
+dfc3bbc125dc3925e7c1795c3c31ec69100046ae	The case of a patient with bilateral @DISEASE$ and postoperative baroreflex dysfunction with severe arterial hypertension and @PHENOTYPICFEATURE$ episodes is presented.	false
+97dbbdabf0a9f574848dd25c046aca06772ed308	@DISEASE$ are sporadic @PHENOTYPICFEATURE$.	false
+d929de5705380cd0b62d712952098548179aee7f	Vagal @DISEASE$ are rare @PHENOTYPICFEATURE$.	false
+33b1ebcef799984f05850153983f6d848c381f03	Congenital vertical talus (CVT) is a rare @PHENOTYPICFEATURE$, but it is a commonly associated anomaly in patients with @DISEASE$ (MPS).	false
+786822f81d2f0f6ec5e750a141c99df6a265b1b8	Middle @PHENOTYPICFEATURE$ might be highly associated with @DISEASE$.	false
+d2c2a7ec9416886ea859e022e01e2f07196e61ca	Although a submucous @PHENOTYPICFEATURE$ is a well-known manifestation of @DISEASE$, velopharyngeal insufficiency has not been previously described.	false
+8bb699334eb1a3d6e6fbb891bfd013d0379eac59	If the coexistence of autism and histidinemia was not coincidental, @DISEASE$ may have constituted a necessary but not sufficient factor leading to the clinical condition of @PHENOTYPICFEATURE$.	false
+3e0c9f498a6d60f81c44543b4d5d32d27d6b1730	If the coexistence of @PHENOTYPICFEATURE$ and @DISEASE$ was not coincidental, histidinemia may have constituted a necessary but not sufficient factor leading to the clinical condition of autism.	false
+ad2edef560627f2ffaeeb9dfa39cdaf9e0b397d1	If the coexistence of autism and @DISEASE$ was not coincidental, histidinemia may have constituted a necessary but not sufficient factor leading to the clinical condition of @PHENOTYPICFEATURE$.	false
+f8ffba4e9e0eb610c884b892f1060425e146e26e	If the coexistence of @PHENOTYPICFEATURE$ and histidinemia was not coincidental, @DISEASE$ may have constituted a necessary but not sufficient factor leading to the clinical condition of autism.	false
+c55991b9e34535d49164dd477b80bbc778816003	The relationship between renal @DISEASE$ and @PHENOTYPICFEATURE$ is discussed.	false
+07095334a9036266d053b810f99fa6643ff37e47	The HOXB13 mutation substantially increases risk of early @PHENOTYPICFEATURE$, @DISEASE$ in European-American men.	false
+2fa6a02ef5046edc1d55d606cec364fc5f0f53f7	In humans, dysferlin mutations cause @DISEASE$ (LGMD2B) due to defective Ca(2+)-dependent, vesicle-mediated membrane repair and otoferlin mutations cause non-syndromic @PHENOTYPICFEATURE$ due to defective Ca(2+)-triggered auditory neurotransmission.	false
+a1f44280fa015fdc3e1d592ba6b6c33c98e8c435	A family of German extraction with progressive ataxia, @PHENOTYPICFEATURE$, peripheral sensory loss, and @DISEASE$ onset is described.	false
+1f9e2d2b4c69c505fa8afa0cc5af3195cd77370a	The management of patients with @DISEASE$ include following strategies: A, during an acute attack: 1) treatment with heme preparations, if an acute attack is severe or moderate; 2) symptomatic treatment of autonomic dysfunctions, polyneuropathy and @PHENOTYPICFEATURE$; 3) exclusion of precipitating factors; and 4) adequate nutrition and fluid therapy.	false
+b1b8131556e0f15b35b8193c589478c1e0cf59d5	Melatonin concentration in urine, sampled over eight hours on two consecutive nights, was analysed in eight @DISEASE$ patients with @PHENOTYPICFEATURE$ and in 14 AIP relatives without epilepsy.	false
+5e3b5ce542afe62c0216db1f1fcb6070ee7517b9	A Chinese female patient with very typical @DISEASE$ symptoms of severe abdominal pain, @PHENOTYPICFEATURE$, hypertension, and tachycardia, accompanied with hyponatremia, anemia, and hyperbilirubinemia.	false
+7e61421fbdcd7d03603062b48cd781faba93c163	In contrast to other causes of PRES patients, @PHENOTYPICFEATURE$ is the most common symptom in @DISEASE$ patients with PRES.	false
+31024abbd548853308be9062a986c9da989ea37d	Magnesium sulfate for @DISEASE$ @PHENOTYPICFEATURE$.	false
+dbf3522c58ecbc1ff793ae8574916c1d447275a0	@PHENOTYPICFEATURE$ among persons with @DISEASE$ are less common than has been previously described.	false
+cdf28be4e6e6262ac9173c49b9788f3d3c5e5877	Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, whereas patients with homozygous dominant AIP (HD-@DISEASE$) have early-onset chronic neurological impairment, including @PHENOTYPICFEATURE$ and psychomotor retardation.	false
+f742f8c4b735000157c9780bea7f4d2bd1574673	We reviewed our experience with treating patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+3cfa48bf8aeb90d68b495696c542ffdd0e81831d	Patients with neurogenic bladder due to @PHENOTYPICFEATURE$ are considered to be at increased risk for aggressive @DISEASE$.	false
+0540f5d6dcad405b4446bca7af5aba6b7f62ae19	Bladder cancer is a deadly diagnosis in patients with congenital bladder anomalies like spina bifida, and while overall prevalence of the two conditions occurring together is low, @DISEASE$ will go on to affect 2-4% of @PHENOTYPICFEATURE$ patients.	false
+5319de3074e225beca30fb25829d9c27dd76e428	Bladder cancer is a deadly diagnosis in patients with congenital bladder anomalies like @PHENOTYPICFEATURE$, and while overall prevalence of the two conditions occurring together is low, @DISEASE$ will go on to affect 2-4% of spina bifida patients.	false
+cf315531db90ce6ed892e33cd3cf2d2541575fd5	@DISEASE$ is a deadly diagnosis in patients with congenital bladder anomalies like @PHENOTYPICFEATURE$, and while overall prevalence of the two conditions occurring together is low, bladder cancer will go on to affect 2-4% of spina bifida patients.	false
+a9d626082a2f39d1646238d605e196116c0bd49b	@DISEASE$ is a deadly diagnosis in patients with congenital bladder anomalies like spina bifida, and while overall prevalence of the two conditions occurring together is low, bladder cancer will go on to affect 2-4% of @PHENOTYPICFEATURE$ patients.	false
+59c587a78289a61bd83e030f0c312c6777c34f8e	Patients with @PHENOTYPICFEATURE$ treated for @DISEASE$ between 1995 and 2005 were identified.	false
+330cf6bb1c56349381ea0d7bcfc7be7cd3edd352	Local complications of BCG therapy for @DISEASE$ include cystitis, prostatitis, epididymo-orchitis, granulomatous lymphadenitis, or @PHENOTYPICFEATURE$.	false
+1408d2ca2692d6d13d24b46ee14c89c0d6c9f2be	Patients with @PHENOTYPICFEATURE$ present with @DISEASE$ at an atypically young age with very advanced disease.	false
+309247233d648fa2dd3f8ee5dbe0498f6f3e9ec7	Patients with @PHENOTYPICFEATURE$ and @DISEASE$: atypical presentation, advanced stage and poor survival.	false
+e979f45adaabbfacfa0b263091c942c14348fe38	Risk of @DISEASE$ in patients with @PHENOTYPICFEATURE$: case reports and review of the literature.	false
+91ba41fe6eb65f14fb4ccb141fb5983d3772907a	@DISEASE$ arising in a @PHENOTYPICFEATURE$ patient.	false
+edaecb88f406a18a90b84855bca140d6a33e9a4f	Systematic review of @DISEASE$ outcomes in patients with @PHENOTYPICFEATURE$.	false
+e5bdcbc26f519feeb5ec192613f38057d6530b41	Should @DISEASE$ be called Lincoln @PHENOTYPICFEATURE$?	false
+8bc873e3d1743e7c1db7aa06f35854eabb0725af	Heterozygous mutations in SPTBN2, the gene encoding ?-III spectrin, cause @DISEASE$ (SCA5), an adult-onset, slowly progressive, autosomal-dominant pure @PHENOTYPICFEATURE$.	false
+d3eed587b9dcd28c8b91866b14b8ff8abd4aad95	The families that we describe shared some relevant clinical and imagiological features with @DISEASE$ and the recently described spinocerebellar @PHENOTYPICFEATURE$ type 20, allelic to spinocerebellar ataxia type 5. Spinocerebellar ataxia types 5 and 20 could be different phenotypic expressions of the same molecular disorder.	false
+41060e475c2ba47b01c3927c20b4d5098be33f77	The families that we describe shared some relevant clinical and imagiological features with spinocerebellar ataxia type 5 and the recently described spinocerebellar @PHENOTYPICFEATURE$ type 20, allelic to spinocerebellar ataxia type 5. @DISEASE$ and 20 could be different phenotypic expressions of the same molecular disorder.	false
+d530bc6bca4fb2eef49c5fc46282e12964951b63	The families that we describe shared some relevant clinical and imagiological features with spinocerebellar ataxia type 5 and the recently described spinocerebellar @PHENOTYPICFEATURE$ type 20, allelic to @DISEASE$. Spinocerebellar ataxia types 5 and 20 could be different phenotypic expressions of the same molecular disorder.	false
+c39c84ed43a9ea8ceb44618558ad1de810714480	@DISEASE$, a dominant spinocerebellar @PHENOTYPICFEATURE$ associated with mutations involving ?-III spectrin (SPTBN2), has been described in 3 families.	false
+d40804f4e6253b32d7668f824457c4b930d7008a	A family with late-onset autosomal dominant pure @PHENOTYPICFEATURE$, consistent with @DISEASE$ (SCA5) but lacking previously reported SPTBN2 mutations, was identified.	false
+3c7358f7e0058948773455a0bb44f5439b0c2bf8	@DISEASE$ (SCA5), a dominant spinocerebellar @PHENOTYPICFEATURE$ is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation.	false
+68feaf5539fd25365b23e5d956641af2e81dae73	@DISEASE$ (SCA-5) is a predominantly slowly progressive adult onset @PHENOTYPICFEATURE$.	false
+171515689e524c5673f01e19be80059c647ebacc	To avoid anxiety, unnecessary diagnostic procedures and surgery @DISEASE$ should be always be considered in the case of an intramuscular @PHENOTYPICFEATURE$ associated with concurrent skeletal abnormalities.	false
+8f449116f2088bbd98557f975962d3154c27c3d9	Faciogenital dysplasia (FGDY), also known as @DISEASE$, is an X-linked developmental disorder characterized by @PHENOTYPICFEATURE$ and by facial, skeletal, and urogenital anomalies.	false
+fffc92163cce88174328ca28bf7ce7b1461c4c08	@DISEASE$ (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by @PHENOTYPICFEATURE$ and by facial, skeletal, and urogenital anomalies.	false
+33df2907fbd2aa0d5526b4be36d7f0d9f2e715df	Disabling mutations in the FGD1 gene cause faciogenital dysplasia (also known as @DISEASE$), a human X-linked developmental disorder that results in @PHENOTYPICFEATURE$, facial, skeletal and urogenital anomalies, and in a number of cases, mild mental retardation.	false
+4d7c0f4d641e157120338f39f19c154bf6b24dcf	Disabling mutations in the FGD1 gene cause @DISEASE$ (also known as Aarskog-Scott syndrome), a human X-linked developmental disorder that results in @PHENOTYPICFEATURE$, facial, skeletal and urogenital anomalies, and in a number of cases, mild mental retardation.	false
+86ad192b9979b44a6265795744ab07004d2f8703	The spectrum of intermittent presentations in PDH deficiency includes @DISEASE$, intermittent peripheral weakness, recurrent dystonia and extrapyramidal @PHENOTYPICFEATURE$.	false
+b1f979dad19ca73c761373f4a126d275776cb1b6	In this study, we report 16 affected individuals from four unrelated families presenting with a spectrum of cognitive impairment including intellectual deficiency, executive dysfunction, ADHD and/or @PHENOTYPICFEATURE$, as well as childhood-onset epileptic encephalopathy with refractory absence epilepsy, febrile seizures, downbeat nystagmus and @DISEASE$.	false
+2e19a64c135f1e4935f458e92ba977fdba3c72d3	This boy presented with clinical features of @DISEASE$, and also showed cerebellar atrophy, hypotonia, @PHENOTYPICFEATURE$ and global developmental delay at age 4 years.	false
+9fab9cb5dac3acaca233c4417f4dbd1c1ca540d6	Amniotic band syndrome (@DISEASE$) is a rare developmental disorder associated with defects such as syndactyly, facial and/or palatal clefts, and @PHENOTYPICFEATURE$ like malformed or impacted teeth.	false
+3a6ef352907abacc6b4fd896081d977ca3fb6b62	The Antley-Bixler syndrome (@DISEASE$) is characterized by craniofacial, skeletal and @PHENOTYPICFEATURE$.	false
+07d323bf984cd5e3f5772f5815c85a780571fde9	Five (33.3%) of them had absence epilepsy (absence seizures, @DISEASE$), 5 had IGE with @PHENOTYPICFEATURE$ (GTCS), and another 5 had both seizure types (IGE with ABS/GTCS).	false
+239ee5b716bef171e3238f8eebb1b98572b6b88e	Five (33.3%) of them had absence epilepsy (absence seizures, ABS), 5 had IGE with @PHENOTYPICFEATURE$ (GTCS), and another 5 had both seizure types (IGE with @DISEASE$/GTCS).	false
+3092797b9dc6580c272716cdb038baea2a186f16	Here we describe such a case, with typical @DISEASE$ limb defects and constriction bands, along with CLP, supernumerary left nipple, @PHENOTYPICFEATURE$, and a skin papilla.	false
+b801b22f71260c6ca8d683f531ce68d67162a415	We tested the hypothesis that the cortical areas with abnormal local EEG synchronization are dissimilar in the three common idiopathic generalized epilepsy (IGE) phenotypes: IGE patients with absence seizures (@DISEASE$), juvenile myoclonic epilepsy (JME) and epilepsy with @PHENOTYPICFEATURE$ exclusively (EGTCS).	false
+8259489b56373e496601072e66fea2555f435af7	The main etiologies were @PHENOTYPICFEATURE$ in children and vascular disorders and @DISEASE$ in adults.	false
+af0fe7fb80dfadc579553ab86b1e48fbc6e0e478	Here, the case of a 76-year-old female patient who had primary peritoneal cancer and developed @DISEASE$ as a result of prolonged nutritional imbalance and fast-growing @PHENOTYPICFEATURE$ cells is reported.	false
+402c098c619c8790835d982aa5be72140e4e00bf	Transient global amnesia occured three months previously to a @PHENOTYPICFEATURE$ @DISEASE$.	false
+e4fe7219a2e26329853e94b884328d6aca7f6d95	An involvement into the process of the hyppocampus leads to a model nonspecific drop of short-time memory, while the expansion of the @PHENOTYPICFEATURE$ towards the diencephalo-mesencephalic structures--to a formation of the @DISEASE$.	false
+250e405cf524b433e781424ac5f51fb86cad43bd	Complications attributed to these resections included: disorders of the hypothalamic-pituitary axis (3) - diabetes insipidus, galactorrhea, and hypopituitarism; @PHENOTYPICFEATURE$ recurrence (2); aseptic meningitis (1); and a transient @DISEASE$ (1).	false
+bc2441821e92023a255f2365dab239ce5259d4af	[@DISEASE$: malignant @PHENOTYPICFEATURE$ as triggering factor].	false
+c0a3288ebaf0483f2b1170838807e1a4615ee46e	Gastrectomy, alcoholism and malignant @PHENOTYPICFEATURE$ are three predisponing risk factors for the development of @DISEASE$.	false
+fd933887994997472f449a84621393d1721ab15a	Clinical-pathologic studies, both our own (of alcoholics with the @DISEASE$) and those of others (in patients with thalamic infarctions and @PHENOTYPICFEATURE$) provide unambiguous evidence that medial thalamic lesions, without additional lesions of the mammillary bodies, are quite sufficient to produce a severe and enduring amnesic state.	false
+4a119dfd2afc90bf34deccae4c7d16cb586d9387	Abundant electrical myotonia and @PHENOTYPICFEATURE$: Unusual features of @DISEASE$ due to a novel mutation in LAMP2 gene.	false
+2425cb8a3ba72eb8649f0af15c038627ab89cdd4	@PHENOTYPICFEATURE$ and neutrophilia predict outcome in locally advanced @DISEASE$ treated with definitive chemoradiation.	false
+9f733138efcece95740521b0f90c4cc9b5c9da06	The median survival of patients with @PHENOTYPICFEATURE$ and @DISEASE$ was 12.4 months and 12.6 months for patients without hypercalcemia.	false
+7a0c03017ce55d41facfd1310ae1d74e0c6b4c03	LI appears to be a prognostic predictor after preoperative CR therapy while, in addition, simultaneous @PHENOTYPICFEATURE$ may stimulate LI in cases with @DISEASE$.	false
+8683d83cc96649eff04d36a2cba0ee9317f9bb81	Prognostic significance of lymphocyte infiltration following preoperative chemoradiotherapy and @PHENOTYPICFEATURE$ for @DISEASE$.	false
+3307741ed414b56c52665ae03e5f2357687e8ad1	Previous studies have revealed that HOX transcript antisense intergenic RNA (HOTAIR) was frequently upregulated in various types of cancer, including @PHENOTYPICFEATURE$, @DISEASE$, lung cancer and gastric cancer.	false
+4385071729bdcfd2abb3f20e88463fb12cae6556	A correlation between the @PHENOTYPICFEATURE$ sensitivity test, using the in vitro succinate dehydrogenase inhibition test, and the clinical remedial value was also examined in malignant tissues from 47 patients with @DISEASE$, and treated with HCR therapy.	false
+a4ecfabf1fc69cf79b9f21b83ef88a19ed9483c6	In this review, we have collected the available clinical data on the therapeutic role of omega-3 FAs against breast cancer, colorectal cancer, leukemia, gastric cancer, pancreatic cancer, @DISEASE$, prostate cancer, lung cancer, head and neck cancer, as well as cancer @PHENOTYPICFEATURE$.	false
+e0d289e6bb5977a79807ba49160c05af8a8d20c8	Human @DISEASE$, gastric cancer, @PHENOTYPICFEATURE$ and liver cancer are common gastrointestinal malignant carcinomas in the world.	false
+b8bac6b77b655fcb0f28712eff2a3101bca286b4	Langer-Giedion syndrome (@DISEASE$) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, @PHENOTYPICFEATURE$ and digit deformities.	false
+1e5c76cac224493637a65eba851e8ff2972a35a7	@DISEASE$ (ABS, MIM 207410) is a @PHENOTYPICFEATURE$ syndrome primarily affecting head and limbs.	false
+3bf1d2be89bdf78a6b6ffda955aae09f6f9ef9a6	Humero-radial synostosis (HRS) is a rare @PHENOTYPICFEATURE$ that might be seen in some craniosynostosis syndromes, notably @DISEASE$, and in other disorders in association with skeletal anomalies.	false
+c4f10ada137a48ed10500403a0b4965af375cfba	Humero-radial synostosis (HRS) is a rare skeletal anomaly that might be seen in some craniosynostosis syndromes, notably @DISEASE$, and in other disorders in association with @PHENOTYPICFEATURE$.	false
+d40f95ca68989cd016b370bfbc038a1350e3b3d8	At 1 year of age, @PHENOTYPICFEATURE$ suggestive of @DISEASE$ were detected.	false
+f1338c5a72afd3c2176492a2cdf48bc66f0e739f	Radiohumeral synostosis, femoral bowing, other @PHENOTYPICFEATURE$ and anal atresia, a variant example of @DISEASE$?	false
+a1a3cb8d77b521a71f79167697f5a087f5e2979e	Some patients with the disorder have no dysmorphology apart from genital malformations while others have @PHENOTYPICFEATURE$ attributed to @DISEASE$.	false
+7ea38826c671c08a609de218cca12e3db4249dfd	Association between early postnatal @PHENOTYPICFEATURE$ and death or @DISEASE$ in small and appropriate for gestational age extremely low-birth-weight infants.	false
+ad16769cfc1f7a2bff3cbd6c4e292042f9bedbdd	On OMMP total score, mental @PHENOTYPICFEATURE$ was similarly elevated in @DISEASE$ and DD.	false
+f6a7262b378435276157f5be047e8b779fab70e0	Eliminating sleep-associated @PHENOTYPICFEATURE$ improves growth in infants with @DISEASE$.	false
+702c38b9156680b56e7f7de740affc2846733816	Preterm infants with @DISEASE$ are at high risk of persistent @PHENOTYPICFEATURE$ late in the first year of life compared to controls.	false
+ee5733466fd1b60d2a6d64f641ac866d2b0a25db	To determine the risk of @PHENOTYPICFEATURE$ in preterm infants with @DISEASE$ (BPD) and preterm controls.	false
+fede367687ca6ad769c5bacc01322502f845d5e7	To determine the risk of @PHENOTYPICFEATURE$ in preterm infants with bronchopulmonary dysplasia (@DISEASE$) and preterm controls.	false
+aff19ae58c7bf0815d903d385c00bd98919f0bee	@PHENOTYPICFEATURE$ in children with @DISEASE$: a longitudinal follow-up study in children aged between 6 and 24 months.	false
+98cbf0e8902462c212c3dab6d6387c88035bec12	Controlling for other confounding factors, early @PHENOTYPICFEATURE$ was associated with an increased risk of @DISEASE$.	false
+b289c468190752f1a8134df503423fd34ca3fb89	To determine the occurrence of isolated and recurrent episodes of @PHENOTYPICFEATURE$ (CHL) during the first two years of life in very low birth weight (VLBW) infants with and without bronchopulmonary dysplasia (@DISEASE$).	false
+ade1f66072531cdc6cf409c0429be29ebffdb4ca	To determine the occurrence of isolated and recurrent episodes of @PHENOTYPICFEATURE$ (CHL) during the first two years of life in very low birth weight (VLBW) infants with and without @DISEASE$ (BPD).	false
+aaf3418254797162512f97b2834b19c6aae3a227	@DISEASE$ and low Apgar score were the most significant factors for predicting the occurrence of @PHENOTYPICFEATURE$.	false
+a9f4d081ffa0d31ac76592dda3298a603837456d	@PHENOTYPICFEATURE$ in preterm infants with @DISEASE$.	false
+e42a09992e21c1ddf13f9f185f2cffbb4ae608f1	PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated @PHENOTYPICFEATURE$ (OMIM 614934) and @DISEASE$ (OMIM 614932).	false
+124c699e1fc1d56319cca1d38f1b5a73f051fa24	The pathophysiologic mechanisms which have been implicated include platelet inhibition by plasma metabolites, eg, urea, guanidinosuccinic acid, phenolic acid; increased vessel wall prostacyclin; abnormal platelet arachidonic acid metabolism; increased levels of parathyroid hormone (PTH); defective binding of the Factor VIII complex to platelets or defective binding of platelets to vessel wall subendothelium by the Factor VIII complex; decreased platelet-vessel wall-interaction due to severe @PHENOTYPICFEATURE$; @DISEASE$; defective fibrinogen binding to platelets.	false
+03381f93407f71c47441fadf411978a868f0d167	@PHENOTYPICFEATURE$ and atherothrombotic events in @DISEASE$ and essential thrombocythemia.	false
+dbc34929ef64fd350c48e9b9edcb5f53cc71a3d3	Transformation of erythrocytosis associated with @PHENOTYPICFEATURE$ to @DISEASE$.	false
+b0100f1d2a4ebbe0b8cb3ba287cf2c52c1f3b169	Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemia (ET) in 6 and @DISEASE$ (PV) in 4. Symptoms varied and included cerebral ischemic attacks, mental concentration disturbances followed by throbbing headaches, nausea, @PHENOTYPICFEATURE$, syncope or even seizures.	false
+7d1b4aa5fbd7bda9c824d7574a487ea013b3a249	We present the case of a 69-year-old male with a history of @DISEASE$ (PV) who developed proximal muscle weakness, @PHENOTYPICFEATURE$, and rash.	false
+967076b8153d80149e0f7e291ccf8ed744cdd1b7	@DISEASE$, polythelia, @PHENOTYPICFEATURE$, and developmental delay: a unique expression of polytopic field defect involving possible 'paradominant' inheritance?	false
+d568b46824156fe2006d7c650b4838239ea20388	We report on a girl with @DISEASE$, epibulbar dermoids, and @PHENOTYPICFEATURE$.	false
+91e0d7a064b35105ab392d3ef452e330a08d47f8	@DISEASE$, cleft palate, epidermolysis bullosa, and @PHENOTYPICFEATURE$: a new syndrome?	false
+6bd03c42e9772d60c6fde27241ae0ff8a99614bc	We report a 2-year-old male with @DISEASE$ of the scalp, epibulbar dermoids, strabismus and @PHENOTYPICFEATURE$.	false
+835700a7fa578921e01bb681574625bd29d8f376	@DISEASE$ (CPVT) is an arrhythmogenic disease that manifests as syncope or sudden death during high adrenergic tone in the absence of structural @PHENOTYPICFEATURE$.	false
+e8a7233be17a5cd5679a4610dcc23145b1ea0323	@DISEASE$ (CPVT) is a devastating inherited disorder characterized by episodic syncope and/or sudden cardiac arrest during exercise or acute emotion in individuals without structural @PHENOTYPICFEATURE$.	false
+e2bad2c943446fed9ef5158601e7f85f9adbb07f	In contrast to other @DISEASE$ patients who do not usually have structural @PHENOTYPICFEATURE$, these patients are at a high risk of developing left ventricular noncompaction or dilated cardiomyopathy and therefore might benefit from cardiac imaging at regular intervals.	false
+50e1a1a0fecf34531a3a8099571799a045277e1b	The familial condition @DISEASE$ (CPVT) is characterized by episodic bidirectional ventricular tachycardia (BVT), polymorphic ventricular tachycardia (PVT), and @PHENOTYPICFEATURE$ following adrenergic challenge.	false
+6b4fc615dfc4a4c24dcfd11e599fab40c7fe7b33	Cardiac arrhythmia is an important cause of death in patients with @PHENOTYPICFEATURE$ (HF) and inherited arrhythmia syndromes, such as @DISEASE$ (CPVT).	false
+0f1cf344e216a5f93a68954ae76a34c5506fd8ae	@DISEASE$ (VT) is a lethal familial disease characterized by bidirectional VT, polymorphic VT, and @PHENOTYPICFEATURE$.	false
+bb00f323afa7c19622c4bb4f1134737e5970e756	@DISEASE$ is characterized by life-threatening ventricular arrhythmias, usually polymorphic ventricular tachycardia or @PHENOTYPICFEATURE$, occurring under conditions of exercise or emotional stress.	false
+08ccde675edd9a9418aa0f4397e9e369c2cf4889	These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and @DISEASE$), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and @PHENOTYPICFEATURE$ with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis).	false
+58f7d59e360b53b92ed4ed78961bfa37c9d89aa0	@DISEASE$ is a rhythm disorder that develops due to genetic reasons in the absence of structural @PHENOTYPICFEATURE$.	false
+c42cde284d36355536a4310b03d4ede61f0586fb	Additional findings may include synkinesia, hearing loss, unilateral @DISEASE$, brachy- or syndactyly, agenesis of corpus callosum, @PHENOTYPICFEATURE$ and dental agenesis.	false
+1543c654346c6df6f203472fa6a93d0c59ca65d4	A careful evaluation of the female reproductive tract may be necessary in children with not only @DISEASE$ but also lateral @PHENOTYPICFEATURE$ such as multicystic dysplastic kidney.	false
+13158c7809f4b408df9a5daa111450e7da81f511	We report a fetal case with intrauterine growth retardation, @PHENOTYPICFEATURE$, multiple malformations with cardiac anomalies, @DISEASE$ and facial anomalies detected by prenatal ultrasound.	false
+e7e7c42044636ec2c50cf1a97ac236ad56b1b2f7	Report on two siblings having died during the first days of life who exhibited a syndrome of polydactyly, @DISEASE$ and inter-sexual genitalia, and in one child an additional @PHENOTYPICFEATURE$ and coarctation of the aorta with VSD.	false
+4578f191d30fe4e56b9d2999b92e6a0d663f6bdb	[Left @DISEASE$ & abdominal @PHENOTYPICFEATURE$].	false
+0995e24d9e57920938f02cd88b913e674c7129a9	Pathological changes such as hydronephrosis, cysts, solid @PHENOTYPICFEATURE$ or inherited diseases (polycystic diseases, hypoplasia or @DISEASE$) can easily be diagnosed.	false
+306213b90a79870af74dfd5cff4633f584f1bb20	[Case of @DISEASE$ and @PHENOTYPICFEATURE$ in the adjacent ureter].	false
+e59164ccb34528004aa8ed2bb07c04431d96a7b8	@PHENOTYPICFEATURE$ are common birth defects that may manifest as a wide spectrum of anomalies from hydronephrosis (dilation of the renal pelvis and calyces) to @DISEASE$ (complete absence of the kidney(s)).	false
+9a496e94e48d62991808024c066d25aa89640533	In addition to the thoracic defect, Poland syndrome can be associated with hand anomalies, dextrocardia, @DISEASE$, and various @PHENOTYPICFEATURE$.	false
+962695475d02028116496b4c36d93677cddf0b47	A danish girl with incomplete, bilateral cryptophalmos together with assoicated craniofacial malformations, laryngeal hypoplasia, syndactyly, unilateral @DISEASE$ and slight external @PHENOTYPICFEATURE$ is reported.	false
+5faddd23dfd1f397bcaf81a4bddc584a0853215d	No BRCA mutation was detected, whereas 3 neoplasms yielded PIK3CA mutation, including @DISEASE$, mammary-type invasive ductal carcinoma, and tubulolobular @PHENOTYPICFEATURE$.	false
+a8cb09642c0e6173c1f6435957834a7e3998ba21	Known ophthalmic manifestations of HTLV-1 include malignant infiltrates in patients with adult T-cell leukemia/lymphoma, @PHENOTYPICFEATURE$, neuroophthalmic disorders, and keratoconjunctivitis sicca in patients with @DISEASE$, and HTLV-1-associated uveitis.	false
+97265f2d311e77396653089f216f5066d39329a1	We describe the clinical features of 22 patients with @DISEASE$ and the results of screening for HTLV-1 in these patients, 26 patients with other neurological disorders, 14 patients with @PHENOTYPICFEATURE$ and 66 blood donors.	false
+ce94a13d13eb3040c1b0dafc7f3ec934023023b4	Bilateral pressure @PHENOTYPICFEATURE$ hypersensitivity and facilitated @DISEASE$ were demonstrated in patients with preoperative hip OA.	false
+7d60ca8a7d6d64ddc92262d4cb86f8da2385439c	Interstitial @PHENOTYPICFEATURE$ was more frequent among patients with @DISEASE$ who had high proviral DNA levels.	false
+b3308e96397d8c56d58a8876888fafc9e866dd93	[Familial @DISEASE$ with mental retardation, convulsion & muscular @PHENOTYPICFEATURE$ (author's transl)].	false
+10adff6074fd9dc1c6e7bae53c5fe16323688ac0	Individuals with idiopathic Parkinson's disease (@DISEASE$) usually develop a @PHENOTYPICFEATURE$ characterized by reduced loudness, hoarse and breathy voice, monotony of pitch, short rushes of speech, and imprecise consonants.	false
+60a81985ea82370f44d962e59e7002d3ecf0241b	The laryngeal pathophysiology underlying the @PHENOTYPICFEATURE$ in idiopathic Parkinson disease (@DISEASE$) was addressed in this electromyographic study of laryngeal muscle activity.	false
+f118058eec233166893235a023e9b0232237bd36	Sixty to 90% of patients with idiopathic Parkinson disease (@DISEASE$) developed early dysphonia and subtle @PHENOTYPICFEATURE$, which is usually related to orofacial muscular dysfunctions.	false
+9affb07d007f952dd5c85b5edea428289e2cd088	General autopsy findings included situs inversus, persistent @PHENOTYPICFEATURE$ and endocardial cushion defect, hypoplastic lungs and adrenal glands, and @DISEASE$.	false
+7f7312ae0fbb17f28959b7eb6291a24b699c568c	The underlying diseases were @PHENOTYPICFEATURE$, congenital cholestasis, drug-induced cholestatic cirrhosis and @DISEASE$.	false
+c0060659810b8e9aee70ba563cec08333520ea8c	The main indications were @PHENOTYPICFEATURE$ (17.6%) followed by Wilson disease (14.7%) and @DISEASE$ (14.7%).	false
+490c9278b3b92470688ff882d36fdc9c0faf3b23	The most common causes of liver cirrhosis were Wilson disease (n=22; 20.7%), @PHENOTYPICFEATURE$ (n=19; 17.9%), and @DISEASE$ (n=14; 13.2%).	false
+c8281d2682a07af6e4ce8d9bda277106731261e5	The 4 most common reasons for liver transplantation were: Wilson's disease (n=10; 16.3%), @PHENOTYPICFEATURE$ (n=9; 14.5%), progressive familial intrahepatic cholestasis (n=8; 12.9%), and @DISEASE$ (n=7; 11.3%).	false
+5bafb711a8b5b3ae854db9e8574f3a957ea51939	Primary diagnoses were @PHENOTYPICFEATURE$ (44.6%), fulminant liver failure (9.8%), metabolic liver disease (16.4%), chronic cholestatic liver disease (13.1%), @DISEASE$ (4.3%) and other (11.8%).	false
+bec5d4c19a0b4d4a63bc8c477efa3a6e88d18681	The most common causes for liver disease were @DISEASE$, @PHENOTYPICFEATURE$ and autoimmune cirrhosis.	false
+9ff0477310c4bfbce7383857636bc80c4154aa31	Indications for OLT were @PHENOTYPICFEATURE$ (8), Alagille (3), hepatoblastoma (2), NonA-NonG acute liver failure (2), intrahepatic cholestasis, @DISEASE$, and cholesteryl-ester disease (1 each).	false
+ac504930e95c881aec7d289cce1a69bf488181eb	The main indications were Wilson's disease (20.3%); @DISEASE$ (16.7%); autoimmune cirrhosis (14.5%); @PHENOTYPICFEATURE$ (13.8%); tyrosinemia (9.4%); and progressive familial intrahepatic cholestasis (8.7%).	false
+7e6ecd780eb895abe9c45fead6ff5ecc6debb919	Underlying liver diseases comprised @PHENOTYPICFEATURE$ (27.1%), @DISEASE$ (21.5%), autoimmune cirrhosis (13.1%), familial intrahepatic cholestasis (11.2%),	false
+9df55a5d78af22e24e65641b67c894edfc9be7bc	Indications for liver transplant were @PHENOTYPICFEATURE$ (n = 22), Wilson's disease (n = 4), glycogen storage disease (n = 3), portal vein cavernous transformation (PVCT) (n = 3), fulminant liver failure (n = 1), and @DISEASE$ (n = 1).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+a4be7c292ecdc2316cb07626851fd142b2cbc0c2	The possibility of @PHENOTYPICFEATURE$ and a prolonged QT-period in the ECG should be taken into account for patients diagnosed with @DISEASE$, especially in case of electrolyte imbalance.	false
+6c2a10d44602e6ccda9c24fe47c6c3b31a7bfdf5	@DISEASE$--associated @PHENOTYPICFEATURE$ and nystagmus.	false
+4be70ed4c6080f869cd1d73dbdbb0e8dae2752fc	@PHENOTYPICFEATURE$ in children with @DISEASE$.	false
+6af20dba3d6f53fe12272206f5e72ed84d4a6cb5	PTEN @PHENOTYPICFEATURE$ Tumour Syndrome, Li Fraumeni Syndrome and @DISEASE$.	false
+9d8d7412631b9ad9bf420069cffd86b0960aff8a	Popliteal pterygium syndrome shares features with @DISEASE$ but, in addition, is characterized by @PHENOTYPICFEATURE$, syndactyly of fingers and toes, and toenail dysplasia.	false
+7ad0209df789ae70e8c6d0876b079c474011cfa3	which phenotypically has been known to manifest with midline defects such as cleft lip and palate in @DISEASE$ and additional nail, limb and @PHENOTYPICFEATURE$ in PPS.	false
+2a51b7762b08d00174093cd2d76d45fe657e340a	Popliteal pterygium syndrome shares features with @DISEASE$, but, in addition, is characterized by a popliteal pterygium, @PHENOTYPICFEATURE$, cutaneous syndactyly of the fingers and the toes, and a characteristic pyramidal fold of skin overlying the nail of the hallux.	false
+ae5ae9c9b25c61d7d420a3416cbec46f110911ee	@PHENOTYPICFEATURE$ renal crisis complicated by @DISEASE$ in a case of elderly onset systemic sclerosis.	false
+d89393f1c59d949a10c04b27abd3a55492a817e6	The main types include thrombotic thrombocytopenic purpura in case of dominant @PHENOTYPICFEATURE$ and the @DISEASE$ in case of acute kidney injury, respectively.	false
+179305883d7ffe61d1f424b268b9fb578f08da87	more likely to have severe gastrointestinal manifestations: grossly bloody stools (78% vs. 33%), more stools in the 24 h before admission (median 25 vs. 11), and rectal prolapse (52% vs. 15%)--and extra-intestinal manifestations--leukemoid reaction (22% vs. 2%), @DISEASE$ (8% vs. 1%), severe hyponatremia (58% vs. 26%) and @PHENOTYPICFEATURE$ (24% vs. 16%).	false
+31845668fa1189db2939496f35f2c24426bb24ff	Thrombotic thrombocytopenic purpura (TTP), @DISEASE$ (HUS), and @PHENOTYPICFEATURE$ renal crisis (SRC) all present with features of thrombotic microangiopathy.	false
+ca1f03e18b0f47d5639164e1fc1f13c4c8169167	Thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (@DISEASE$), and @PHENOTYPICFEATURE$ renal crisis (SRC) all present with features of thrombotic microangiopathy.	false
+2d0f320a0ff52b1c54bbbf2fda083607a7e89369	The @DISEASE$: prognostic significance of @PHENOTYPICFEATURE$.	false
+52794a66be6aed269af2589f0e4e9c7049303659	Aside from severe neurological symptoms the pathology in E.coli O104:H4 associated @DISEASE$ frequently includes particular @PHENOTYPICFEATURE$.	false
+0cf77915c568f547d93f371e52357e4f1b11b4e0	@DISEASE$ associated with @PHENOTYPICFEATURE$ is also discussed, because all these cases in the literature were due to this organism.	false
+5a6d743d93df70e84d0b6bcc2843be6f8f6a8061	These cytokines and chemokines may contribute to damage in the colon and development of life threatening conditions such as acute renal failure (@DISEASE$) and @PHENOTYPICFEATURE$.	false
+9b6f1f53d4942c88d4b611f17a19c13588a50823	Compared to 5999 children with sporadic diarrhoea-associated @DISEASE$ in published reports, frequency of renal failure and relapse was not different; frequency of severe @PHENOTYPICFEATURE$ and death was greater (P < 0.05 for all differences).	false
+3f7f14c6e86aa23c25aee6ba23aef8d4354e8475	Additional findings include structural brain abnormalities, eye defects, @PHENOTYPICFEATURE$, @DISEASE$ (HSCR), and genitourinary anomalies.	false
+3a62995fef974848c56684dffde3e395d4ecbe61	@DISEASE$ (HD) has been associated with multiple @PHENOTYPICFEATURE$.	false
+dffe770b056f74b374c71bbe2be280caf5b14556	One also was afflicted with @DISEASE$ and another was born @PHENOTYPICFEATURE$.	false
+7f48bef1b4b1c53e1668f9d7ca5543b0148deba2	Extraoral manifestations include limb anomalies, popliteal webs, accessory nipples, @PHENOTYPICFEATURE$, and @DISEASE$.	false
+bde3f8740afb7513e9d648dce4dccd7490e2a8a4	Mutations or rearrangements in the gene encoding the receptor tyrosine kinase RET result in @DISEASE$, cancer and @PHENOTYPICFEATURE$.	false
+d8d3178de358abe99db6c60036242c42685c3fbd	We report a boy with @PHENOTYPICFEATURE$, dysmorphic features, developmental delay, passing hypotonia, short segment @DISEASE$ (HSCR), and paroxysmal hypoventilation.	false
+3279f2c8f6931266c7e4fa119deca891d2eba7b5	@PHENOTYPICFEATURE$ and @DISEASE$ were less common in the present cohort.	false
+68a66d2a210eb6b3546d549e1668f5fdcd867e64	@DISEASE$ associated with polydactyly, unilateral renal agenesis, hypertelorism, and @PHENOTYPICFEATURE$: a new autosomal recessive syndrome.	false
+8e413e74ed0738630d15a548659be17f38cbd34e	@DISEASE$ associated with polydactyly, unilateral renal agenesis, @PHENOTYPICFEATURE$, and congenital deafness: a new autosomal recessive syndrome.	false
+4daed1e0789104a54d3e27e972d70a4e6db46753	An association of @DISEASE$ with polydactyly, unilateral renal agenesis, hypertelorism, and @PHENOTYPICFEATURE$ is described in sibs (brother and sister) of consanguineous parents.	false
+0a8fcd7f7b993db6020573009e30d12455ef4ed0	An association of @DISEASE$ with polydactyly, unilateral renal agenesis, @PHENOTYPICFEATURE$, and congenital deafness is described in sibs (brother and sister) of consanguineous parents.	false
+a5d4d7c38032859d5190efbb172b8b0b17199630	We report five patients with @DISEASE$, severe mental retardation and dysmorphic facial features including @PHENOTYPICFEATURE$, prominent forehead and dysmorphic ears.	false
+c2b2b12bb50b7be6ae22b6863c1fc05ca66ed25a	In addition, consistent with the rare @DISEASE$, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, @PHENOTYPICFEATURE$, vesicoureteral reflux, hypospadias, and growth deficiency.	false
+977d39f8c071e683394bd1234c938cb390f1b074	At 6 weeks of age, he presented with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8280ad5a776b36c0406fbff8461093d5527da72f	We also review previously reported 44 Arab/Bedouin patients with the same profile of @DISEASE$, short stature, seizures, mental retardation and @PHENOTYPICFEATURE$.	false
+438fd83797f5d677a6b8322eeeda724f28456e44	All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, @PHENOTYPICFEATURE$, persistent hypocalcaemia and @DISEASE$.	false
+5d086aefff335b3d7cbcb0910a7e3c3229b05256	We report a case of severe TBCE-negative phenotypic HRD in a 4-year-old female from India presenting with hypocalcemic seizures due to congenital @DISEASE$, extreme @PHENOTYPICFEATURE$, growth deficiency, ocular anomalies, and facial dysmorphism.	false
+e8e8916bdb5e03da02651ed3c7a00795cdcf4863	There was no incidence of uncontrolled bleeding, mental nerve injury, permanent @DISEASE$, permanent recurrent laryngeal nerve (RLN) injury, skin @PHENOTYPICFEATURE$ on the neck, asphyxia/dyspnea or other complications like tracheal injury, esophageal injury, etc., nor was there any death or recurrence in either of the two groups during the short follow-up period.	false
+eb08a9f364d0f2b818ec1c166e36ec3c4b9ddd67	HRD is a congenital syndromic @DISEASE$ associated with growth deficiency, @PHENOTYPICFEATURE$, intellectual disability, ocular anomalies, and facial dysmorphism.	false
+f77f81e09ed579386e6dc113f68a30cb10d4ce04	We present a case of a male with a ventricular septum defect, @DISEASE$ and mild @PHENOTYPICFEATURE$, in which the diagnosis of 22q11.2	false
+aebeedeb1b0389b9c2dd6e8a2efb344f4e97c5c7	A 4-year-old Saudi female child with extreme @PHENOTYPICFEATURE$, striking dysmorphic features, developmental delay, congenital @DISEASE$, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth.	false
+034e4e49d5ad961229aa939544706c766da1898c	A 65-year old female who had been using omeprazole for 10 years, presented with @PHENOTYPICFEATURE$ and paresthesia of the lower and upper limbs that had been attributed to severe hypomagnesemia, hypocalcemia, and @DISEASE$.	false
+980a4607a284c17afab14e2107c794ad90dc7795	However, we recommend considering the possibility of @DISEASE$ and Fahr's syndrome when we evaluate the patients with OPLL to avoid the risks of sudden onset seizure and @PHENOTYPICFEATURE$ due to cerebral lesions and hypocalcemia.	false
+cb48a16a221cfb6be2a086f3dbb8892281467393	Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (@DISEASE$), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and @PHENOTYPICFEATURE$.	false
+237b81d3c190eaff7a3893b13030c0ceb117c59b	Asphyxiating thoracic dysplasia (@DISEASE$) is characterized by a narrow thoracic cage, which causes severe respiratory failure with frequent perinatal death; brachymelia, predominantly of the rhizomelic type; @PHENOTYPICFEATURE$; and characteristic radiographic findings of ribs, pelvis, and long tubular bones.	false
+8f0bb100e4366f43dd1cd17c89841412785ef47d	Two patients had @DISEASE$, 19 had scoliosis, and 1 had a chest wall resection for @PHENOTYPICFEATURE$.	false
+08be67da240a1545d4389f8406d2d8f32915ffe0	Asphyxiating thoracic dysplasia (ATD), or @DISEASE$, is an uncommon autosomal recessive skeletal disorder characterized by a small thorax, varying degrees of rhizomelic brachymelia, polydactyly, pelvic abnormalities, and @PHENOTYPICFEATURE$.	false
+6f0fef5919ede4fb59eda7711f2ed8afbded20d3	@DISEASE$ or asphyxiating thoracic dystrophy is a rare autosomal recessive skeletal dysplasia characterized by a small thorax, @PHENOTYPICFEATURE$, renal and hepatic anomalies.	false
+5890e88b3c59c2936ad4c7cc651055a0d432becf	Asphyxiating thoracic dystrophy-@DISEASE$ (JS) is a rare autosomal recessive disease characterized by small thorax and @PHENOTYPICFEATURE$.	false
+6bc94695e94e6035e5dba17f3bf310553b4b41ab	Teaching neuroimages: @DISEASE$: hypomyelination and @PHENOTYPICFEATURE$.	false
+2c46d3698731f61a9a3dc27c42c950bfad154220	This article describes a patient with @PHENOTYPICFEATURE$ and additional abnormalities indicating @DISEASE$.	false
+b8e04a5ecec563b9a7ae76ff46d761c8e958f195	@DISEASE$ with mandibular retrognathism and absence of @PHENOTYPICFEATURE$: a case report with a novel mutation in the connexin 43 gene.	false
+b5181bb04ac22dc3b5ed4bbcc9f13243190dfc1e	Hand surgeons are often the first specialists to see patients with @DISEASE$ (ODDD), when infants with ulnar-sided @PHENOTYPICFEATURE$ are referred.	false
+62cb91b387b52e05dcb9c6eeb2b444173498a6cd	@DISEASE$: ulnar-sided @PHENOTYPICFEATURE$ and its associated disorders.	false
+5174fbd7a0e321ca5b79086fd9d387b25fdbab02	A novel GJA1 mutation causes @DISEASE$ without @PHENOTYPICFEATURE$.	false
+daafa9e79b3c71250c4a7eb4986dab87e2eafb46	The relationship between type III @PHENOTYPICFEATURE$ and @DISEASE$ is discussed.	false
+8712210876eb9113e43b1643a8c3a68bb94ce99b	@DISEASE$ (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, @PHENOTYPICFEATURE$, and defects in tooth enamel.	false
+b854dac21d74fb5b378c569e24b0030ed84f33f6	@DISEASE$ (ODDD) is a dominantly inherited human disorder associated with different symptoms like craniofacial anomalies, @PHENOTYPICFEATURE$ and heart dysfunction.	false
+e46e0cabdb492e923a79eb5ce8b4de3d59e9cfd6	@DISEASE$ (ODDD) is an autosomal dominant disorder involving eye and face abnormalities, @PHENOTYPICFEATURE$, and enamel hypoplasia.	false
+75a22decc562dca1c908ec8bb1099f27f2e375bb	PAX-5 was not detected in ALCL (n=22), T-cell lymphoblastic @PHENOTYPICFEATURE$/lymphoma, mixed phenotype acute leukemia with T-cell lineage (n=5), acute myeloid leukemia (n=4), @DISEASE$ with typical morphology (n=5), melanoma (n=3), and undifferentiated/metastatic tumors (n=8).	false
+cccfc5a149278462b576b7031d9425539c4ddbd1	[Apropos of a rare @PHENOTYPICFEATURE$: @DISEASE$].	false
+21578b74e0ac223e7899652a8a33907ab744e3f4	The major types of GIST-associated cancers were gastrointestinal carcinomas (n=228; 47%), lymphoma/@PHENOTYPICFEATURE$, (n=36; 7%), and carcinomas of prostate (n=43; 9%), breast (n=34; 7%), kidney (n=27; 6%), lung (n=26; 5%), female genital tract (n=25; 5%), and @DISEASE$ (n=13; 3%).	false
+c623ebdc97facdb0600e5f0a33d01ed0603c106d	We uncovered 75 patients with a @DISEASE$ and 19 patients with a middle ear adenoma diagnosis; the most common presenting symptom was a @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+d049ede1f4d5e3634174f64d7dfb913d7e478d7c	Although these patients share some manifestations with the @DISEASE$ (Robinson et al.: J Pediatr 113:703-706, 1988), their radiographic changes are distinctive and are not suggestive of a recognized @PHENOTYPICFEATURE$ syndrome.	false
+ebd6b8840fce1283191834abc9851b2cc364a806	Cutaneous verrucous @PHENOTYPICFEATURE$ in a bone marrow transplant recipient with @DISEASE$.	false
+41fab306013e56ee0c4da987417f3b21a3d53499	Esophageal stenosis and @PHENOTYPICFEATURE$ are serious complications of @DISEASE$ that influence the prognosis of patients.	false
+7ab79f0b4fcdad383bce23b287ce6399515e3f2c	A new approach to the operative treatment of @PHENOTYPICFEATURE$ and contracture of the hands of children with @DISEASE$ is described.	false
+b5edb867b906990d332357a67a71f7c84091f0d8	An operation was performed in an 8-years-old girl suffering from a @DISEASE$ from birth complicated by a developed contracture and @PHENOTYPICFEATURE$ of the both bones in order to eliminate these defects without using an autotransplant.	false
+64e11e808e8aa84c6de315fa41c0c92a4352d0d6	Additional conditions in these patients included asthma, urinary tract infection, esophageal atresia, hydrops fetalis, @DISEASE$, malabsorption syndrome, and @PHENOTYPICFEATURE$.	false
+1e13b3d8ef1ee1a91c32627dc57edecbe7897b47	[Vaccination, @DISEASE$ and @PHENOTYPICFEATURE$--is there a connection?].	false
+0e199d55a19b3313914b2c45810f18abd2b41378	@DISEASE$, @PHENOTYPICFEATURE$, and the measles, mumps, and rubella vaccine.	false
+6820deb9f85f2e88fa44cdb276fc66deffe9ab15	Does measles-mumps-rubella (MMR) vaccination cause @DISEASE$ and @PHENOTYPICFEATURE$?	false
+4e5136f981f45fe9f3d9e92a0e0c1a90140364e0	Mindfulness-based therapy for @DISEASE$ patients with functional @PHENOTYPICFEATURE$ or high perceived stress levels.	false
+16a854167af48fd91a98f3a2b191f4140462969b	Measles-mumps-rubella immunisation, @PHENOTYPICFEATURE$ and @DISEASE$: update.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+8dd9bdfe208c9cd6b986f5d90fb6578cb2bbea4f	Measles vaccine, @DISEASE$ and @PHENOTYPICFEATURE$: is there cause for concern?	false
+d3127c49eda8985c3c76df418199c1effb76f675	Primary care faecal calprotectin testing distinguishes inflammatory bowel disease (@DISEASE$) from functional gut disorder in young patients presenting with @PHENOTYPICFEATURE$; however, previous evaluations have excluded patients with alarm symptoms.	false
+a9e5befc77182989612c2113b98659082b7875f7	Primary care faecal calprotectin testing distinguishes @DISEASE$ (IBD) from functional gut disorder in young patients presenting with @PHENOTYPICFEATURE$; however, previous evaluations have excluded patients with alarm symptoms.	false
+470b80d958e598121189a3ae781d5341498017a1	@PHENOTYPICFEATURE$ are common comorbidities of inflammatory bowel disease (@DISEASE$).	false
+baef7bd319e979d0fd7b79455d55a797f75de651	@PHENOTYPICFEATURE$ are common comorbidities of @DISEASE$ (IBD).	false
+5ec7af65cc0c33626a0d014c37975b3da082c7a7	@PHENOTYPICFEATURE$ are extremely uncommon in the spinocerebellar ataxias and have been reported only once before in a patient with @DISEASE$.	false
+616b44139e43b40244c37dc72fabe03810608d54	Thus, the genes causing X-linked hypophosphataemic rickets, @DISEASE$, X-linked recessive @PHENOTYPICFEATURE$, Di George syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and vitamin D-dependent rickets type I have been mapped.	false
+6854a6a848a29148f57c8802c3f06715a7c37ba6	Duplication of OCRL and adjacent genes associated with @PHENOTYPICFEATURE$ but not @DISEASE$.	false
+319894765c52d4e144139e71faa74681f5858d2c	Duplication of @DISEASE$ and adjacent genes associated with @PHENOTYPICFEATURE$ but not Lowe syndrome.	false
+4d529a23dfee0b8762280860db0299af4bc487cb	These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tubular acidosis, and @PHENOTYPICFEATURE$ that are characteristic of @DISEASE$.	false
+99e66f6bf7d03384b37d270143787f4dfe608ece	@DISEASE$ is an X-linked condition characterized by congenital cataracts, @PHENOTYPICFEATURE$ and kidney malfunction.	false
+159f70625395812e3ff1800e8cc201dd330f4d99	To report three patients with persistent M?llerian duct syndrome (@DISEASE$) associated with a unilateral testicular @PHENOTYPICFEATURE$.	false
+78d468cfac140b9a0d74d1325c42301d4847cc3f	The molecular analyses of MIS and MIS receptor gene mutations and @DISEASE$ and the development of MIS ELISAs to evaluate testicular function as well as to follow the progress of gonadal @PHENOTYPICFEATURE$ are several clear examples of successes over the years.	false
+50581a8ba94248f22a494a52150118f89abf5833	Three adults with @DISEASE$ and an associated testicular malignancy were evaluated using physical examination, imaging, measurement of @PHENOTYPICFEATURE$ markers, surgical exploration and chromosome analysis.	false
+c28dfd9dd7a401334ff88ceacf3b15e24d254422	This report describes two miniature schnauzer dogs with @DISEASE$ caused by a known nonsense mutation in the AMHR2 gene, with concurrent development of genital @PHENOTYPICFEATURE$.	false
+dc7fab874bfc4f6563478e4ce6cbc1265d7b13e5	In the last few years different new pulmonary neoplastic lesions have been recognised and some of them, namely @DISEASE$, PEComatous tumors, pneumocytic adenomyoepithelioma, pulmonary myxoid sarcoma, myoepithelial tumors/carcinomas entered in the last 2015-WHO classification of @PHENOTYPICFEATURE$.	false
+67419720e8a7c8f076fb9fcae33fd6971dbdfbed	We report a case of @DISEASE$ presented as a primary @PHENOTYPICFEATURE$.	false
+456e5f60c4e6c7e8c02a650879d3afcc23346b42	@DISEASE$ as a primary @PHENOTYPICFEATURE$: a case report.	false
+98d81da145c51b6f6dcb9b36faba022ec532e704	@DISEASE$ patients were significantly younger than OAPsych patients, had lower levels of @PHENOTYPICFEATURE$, and had a wider range of diagnoses.	false
+f8ec19deade23018b6338e4c431321370bc5da62	The autopsy revealed supratentorial hydrocephalus with the presence of @DISEASE$, a cyst in the posterior fossa (fourth ventricle), @PHENOTYPICFEATURE$, agenesis of the left hemisphere of the corpus callosum and cerebellum, characteristic facial features of the syndrome, ogival palate, pectus excavatum, scoliosis, paraovarian cyst and hepatomegaly.	false
+bec5cacf9425e72380919f83944ef2fbd9859684	[Paracentromeric rupture of the long arm of a 2 chromosome in a 9-month-old girl with @DISEASE$, psychomotor retardation and @PHENOTYPICFEATURE$].	false
+8aaa8c2ae90a91ae8f98030f9a8a6f7d75c0b93d	@DISEASE$ in Friedreich @PHENOTYPICFEATURE$.	false
+9a224c05e75e53660f67d48c39afefc065f07ca3	Chronic encephalopathy with @PHENOTYPICFEATURE$, myoclonus, and @DISEASE$: A case of bismuth poisoning.	false
+2ce3ecbfd41b5b4126007a0001e45c292620a549	The wide range of clinical applications, such as assessment of @DISEASE$, auditory processing disorders, learning @PHENOTYPICFEATURE$, monitoring success in auditory intervention and others illustrate the significance of this measurement.	false
+6436f2f1c8ce00f5464089649e75d4c73b8fa0c8	We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, @PHENOTYPICFEATURE$, @DISEASE$ and chronic respiratory and gut disturbances.	false
+6b5076f592bcec8f4ef2faebb317f958e92114f5	The differential diagnosis includes auditory processing disorder, elevated thresholds in @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a3f69b860da20f92ec68879de69c0325a819bcca	With the positive outcomes after cochlear implantation and the improvements in technology and surgical techniques, candidacy for cochlear implantation in children has been expanding to include hearing-impaired children with significant residual hearing, severe inner ear malformations, multiple handicaps such as @PHENOTYPICFEATURE$ or visual impairment, and @DISEASE$.	false
+341c6df0d956ee527808087da552333e510c7e8d	The aims of this study were to investigate binaural auditory processing in individuals with axonal (Friedreich @PHENOTYPICFEATURE$) and demyelinating (Charcot-Marie-Tooth disease type 1A) @DISEASE$ and to evaluate the relationship between the degree of auditory deficit and overall clinical severity in patients with neuropathic disorders.	false
+e107b5ade7502136728abb1688432800436d103e	Twenty-five patients (14 women) suffering from chronic poststroke leg spasticity with @PHENOTYPICFEATURE$ deformity (Modified Ashworth Scale [@DISEASE$] score, >/=1), aged 38 to 77 years (mean +/- standard deviation, 58.5+/-10.4	false
+fe3bcd1704cd11fefdac63f266228a9adbcc7475	A 32-year-old woman with @DISEASE$ was referred to Neurosurgery and Ophthalmology for right facial @PHENOTYPICFEATURE$, deformity, and eye pressure.	false
+25851fb6d03bad9e4432927516a9a51b7717892c	A rare case of @DISEASE$ associated with glaucoma @PHENOTYPICFEATURE$ and arteriovenous malformations.	false
+4cfb7fbbd9f77eeb5f9365a54ffa5b698028957c	A rare case of @DISEASE$ associated with @PHENOTYPICFEATURE$ retinal degeneration and arteriovenous malformations.	false
+f81c8305a82b82c3768bd0d22cf440e0b607b7b4	Systemic glucocorticoids are used mainly for severe JIA-associated complications such as macrophage activation syndrome (@DISEASE$), myocarditis, pericarditis, pleuritis, peritonitis, and severe @PHENOTYPICFEATURE$; as bridging therapy while waiting for the full therapeutic effect of DMARDs; and in certain occasions for patients with severe refractory uveitis.	false
+c094236c6cc1829f42a28f599b1216e4051fcc60	@PHENOTYPICFEATURE$ during pregnancy, PIH and GDM were important risk factor associated with @DISEASE$.	false
+c90c2ad9375db1e86ddaa780a3b2b141ab85b350	Both LAV and @DISEASE$ significantly decreased lung compliance, increased airway resistance, and caused severe @PHENOTYPICFEATURE$, hypercarbia, and acidosis.	false
+ad153c9bf1bf85232cce0398973595f961726326	This condition was associated with a triad including renal and @PHENOTYPICFEATURE$ in three patients, with @DISEASE$ in two patients, with Hashimoto's thyroiditis in three patients, and with thyroid carcinoma in four patients.	false
+2c193afc548ec522d784815382a5a6ffccf597cf	Children and adolescents with @DISEASE$ frequently have @PHENOTYPICFEATURE$, pain at other sites, dizziness, medication-overuse headache and a psychiatric comorbidity (anxiety and mood disorders).	false
+7d2a2b1ae56130d8cacd6ae24f755474a1127c56	Three of these cases were with small hypermetropia and one with @DISEASE$ @PHENOTYPICFEATURE$ (Plusoptix shows a lower value).	false
+66a2f339abf4c095cee886a28e26867624aa7845	Alterations in the electrical excitability of nociceptive neurons by pathogenic mutations in sodium channels lead to disease patterns, such as @DISEASE$ fiber neuropathy and various @PHENOTYPICFEATURE$ syndromes.	false
+088367f242a50f3da0d6f4953d18b96efc7ff7d5	The technique of minimally invasive percutaneous pedicle screws osteosynthesis (MIPPSO) has the advantages of simple manipulation, safety, @DISEASE$ trauma, less bleeding, light @PHENOTYPICFEATURE$, quickly recovery and short hospitalization time.	false
+807581d70ef3d09f919406b7f9c782c7b62fa8db	These @PHENOTYPICFEATURE$ often occurred in eyes with @DISEASE$ corneal diameters and poorly dilating pupils.	false
+d09cea28cab1ace5925cc85e2836e61c30ca9e9a	Clinical features were: a marked acromesomelic short stature (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, @PHENOTYPICFEATURE$ and teeth, diffuse alopecia, atrioventricular canal, hypoplastic mammary glands and a @DISEASE$ goiter.	false
+f13d35aa9e6012a4427c5575655cc3efbe979f96	A 59-year-old woman presented with progressive paresthesias of all of her limbs for 4?years, associated with neuropathic @PHENOTYPICFEATURE$, tingling in the tongue and allodynia, consistent with @DISEASE$ fiber neuropathy (SFN).	false
+8ae5658c911ece78ac04bd8c1de8d98e06ca3e90	The miotic pupils in late multibacillary leprosy, in combination with @DISEASE$ central @PHENOTYPICFEATURE$, may also lead to blindness.	false
+c7ad2190bfc623c9445f166193fb75f378670d3c	Exposure to elevated levels of PM2.5 was associated with @DISEASE$ total cerebral brain volume, a marker of age-associated @PHENOTYPICFEATURE$, and with higher odds of covert brain infarcts.	false
+1f928136e2dbc55e28745f90c376d76678fae77d	It also showed that eyes treated by cobalt plaque radiotherapy for a large posterior uveal melanoma are more likely to suffer profound @PHENOTYPICFEATURE$ than those treated for a medium or @DISEASE$ melanoma.	false
+554de2efbef691915e24d2bb161a042a8c63f415	MRI findings were defined as inflammatory-like, large-vessel disease (LVD), and @DISEASE$-vessel disease (SVD); SVD was classified as white-matter hyperintensities (WMH), recent small subcortical infarcts, lacunes, microbleeds, and @PHENOTYPICFEATURE$.	false
+b75d72457490b8a8fbc4d5b34a94e7c2f80f4061	@DISEASE$ (PML) is an opportunistic @PHENOTYPICFEATURE$, caused by the John Cunningham virus (JCV).	false
+f588e89fe06ff89948d9a868c3b7aae220eda03f	@DISEASE$ (PML) is a @PHENOTYPICFEATURE$ caused by John Cunningham (JC) virus reactivation in an immunocompromised patient.	false
+7907f89af511bc9233b65d9692e738b73233a0b3	We report an unusual case of probable @DISEASE$ (PML), who initially presented with a right-sided @PHENOTYPICFEATURE$, including upper limb dystonia, tremor, and dyspraxia, reminiscent of corticobasal degeneration.	false
+1a3f4a3f131c96f42d3e112c166263ac19a8ce7f	We report an unusual case of probable progressive multifocal leukoencephalopathy (@DISEASE$), who initially presented with a right-sided @PHENOTYPICFEATURE$, including upper limb dystonia, tremor, and dyspraxia, reminiscent of corticobasal degeneration.	false
+176c726ed534ae36d9d85f0304b7e55fde5f14b9	@DISEASE$ presenting with an isolated focal @PHENOTYPICFEATURE$.	false
+b253fce4392c35b6614cbc82d4aded4cf3ed1df8	@DISEASE$ (PML) is related to @PHENOTYPICFEATURE$ with JC virus (JCV).	false
+a18de6570343fe70687ba7576cbb0c6f2e48869f	Clinical, pathologic, and immunologic features of two patients with @DISEASE$ and multiple coexisting @PHENOTYPICFEATURE$ are presented.	false
+7f78c6b4d009c14ce84a17dddc02f7a32e7c5706	JC polyomavirus (JCV) is the causative agent of @DISEASE$ (PML), a @PHENOTYPICFEATURE$ that mainly affects AIDS patients.	false
+e04827ca7f3816af3f723aa81c1e711a9dd768b3	@DISEASE$ (PML) is a rare, typically fatal, demyelinating @PHENOTYPICFEATURE$ caused by reactivation of the John Cunningham virus that generally occurs in immunosuppressed patients.	false
+4a5f7ffec0c3ab8c6f1d295d5d906b2410bc8e7c	The incidence rates of six neurologic disorders were examined: toxoplasmosis, cryptococcal meningitis, primary CNS lymphoma, @DISEASE$, HIV dementia, and @PHENOTYPICFEATURE$.	false
+24e5a4902673e51e85d1e37d4bc1aa1c9c208b3e	@DISEASE$ (PML) is still a underinvestigated @PHENOTYPICFEATURE$, often linked to HIV-related immunodeficiency.	false
+c8d4fa150b1ef2e92a396ad555514d9a89fdb7b6	To analyse the distribution of macular ganglion cell layer thickness (GCLT) in patients with @PHENOTYPICFEATURE$ (@DISEASE$) with or without albinism to obtain new insights into visual pathway anomalies in albinos.	false
+c59bebaa720ce29d89359b581af53704e610908e	[Cystic @DISEASE$: @PHENOTYPICFEATURE$ development from cystic-"mesothelioblastic" areas?].	false
+6783c91f5eede9ecfe9d92ca65afe9344d9c6365	WT1 immunohistochemistry is reportedly useful in distinguishing @DISEASE$ from other @PHENOTYPICFEATURE$.	false
+9711484fa1345c4abc22a180ea9e4365d91da76b	@DISEASE$: a clinicopathologic, immunohistochemical, and molecular study of 32 @PHENOTYPICFEATURE$.	false
+652cab4b96b00c0e52e3611b478143f1b2ce8663	Analogous fusions are seen in other solid developmental @PHENOTYPICFEATURE$, like @DISEASE$.	false
+cc49cdb95da80565fe2b51d06ebb8d03dcc1d0bf	Immunohistochemistry revealed divergent differentiation; hence, the @PHENOTYPICFEATURE$ was designated as @DISEASE$.	false
+f23e332653f5edc3b9db702c5316fe81c1742373	@DISEASE$ (DSRCT), a rare, aggressive @PHENOTYPICFEATURE$, has a poor prognosis.	false
+09355f12a17588163b51bec182c9cffbfbaf9d2c	Unusual abdominal @PHENOTYPICFEATURE$: case 2. Intra-abdominal @DISEASE$.	false
+29570449b3c5f92af55fb8d24f91d2fd63ea3ac1	@DISEASE$ is a rare @PHENOTYPICFEATURE$ typically involving peritoneum.	false
+16593c3c3d52d83302255a2245f3d6da5306cf04	All @PHENOTYPICFEATURE$ except @DISEASE$ and undifferentiated sarcoma were CD99 positive.	false
+35740b2c55059d1964973df22efc5b9ea14f0c5c	@DISEASE$ is a rare, aggressive @PHENOTYPICFEATURE$ primarily affecting young males.	false
+ce4c14f9d567bd3a9d92540da4c9220593b2c5d0	Growth failure, @PHENOTYPICFEATURE$, acquired pancytopenia, and unusual humoral @DISEASE$: a genetic syndrome?	false
+d75e9a8ebf7cb6d943136f63b3608a9eeed05f40	[Short-limb @PHENOTYPICFEATURE$ with @DISEASE$].	false
+3c58795fa00e7c2654ef43ddff8a23db01861866	Abnormalities of the middle and inner ear, fusion of the kidneys, hydrocephalus, @PHENOTYPICFEATURE$ and @DISEASE$ are described.	false
+8eafa91731fb38d0a99e8db71ed1726c622344e5	This CDG should be considered in the presence of @PHENOTYPICFEATURE$ associated with severe @DISEASE$.	false
+332053c4690df7559f60a8fd5224a404768b1782	The most common clinical features include specific types of congenital heart disease, hypocalcemia, @DISEASE$, facial dysmorphia, @PHENOTYPICFEATURE$, velopharyngeal dysfunction, renal anomalies, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders.	false
+5cc57ba7647d98229ff755fb3e45bd01f6ec2cd1	The most common clinical features include specific types of congenital heart disease, hypocalcemia, @DISEASE$, facial dysmorphia, palate anomalies, velopharyngeal dysfunction, @PHENOTYPICFEATURE$, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders.	false
+61257c73f0c7b7e9ffc12069ccb2bf86b0f1f771	deletion often include congenital heart malformations, @PHENOTYPICFEATURE$, @DISEASE$, hypocalcemia, and developmental delay or learning disabilities.	false
+fbe870e7db5e3a372c15dfe5416f175d8e1d94ca	Affected patients may display diverse symptoms ranging from skeletal @PHENOTYPICFEATURE$, cardiomyopathy to chronic autoinflammation and @DISEASE$.	false
+b0a1d84441609ded22f4506b1c0b828d8d7c254d	Children with active infection, @DISEASE$, @PHENOTYPICFEATURE$, vesicoureteral reflux, infravesical obstruction, urethral trauma or other genitourinary anomalies were excluded.	false
+c6c5dac811e3b6a37341e02d7721acfa50197dc6	Considering the past history, the @DISEASE$ and the absence of palmar-@PHENOTYPICFEATURE$, the case was diagnosed as prepubertal periodontitis.	false
+f2ab6b604f7e89ec27db3f3a5b094470d54c5255	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by @PHENOTYPICFEATURE$, focal segmental glomerulosclerosis, renal failure and @DISEASE$.	false
+f25e47b7330787d6aaf6cc4e738c6ef510804e7e	Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+7eef5fb82ac1b53fd9e91ffe7d996588b44203a3	Acrodysostosis is characterized by @PHENOTYPICFEATURE$, @DISEASE$, variable short stature, and intellectual impairment.	false
+dbe440cb1eb9f93be99548d53efb6df1b6bccbce	Short-term parenteral testosterone replacement significantly improves @DISEASE$ at the hip, lumbar spine and forearm in @PHENOTYPICFEATURE$ young males.	false
+9fb37d45499a1d812444bfc036ce9d95fe121ebc	They had extremely thin and bulging corneas, velvety skin, chestnut colored hair, scoliosis, reduced @DISEASE$, @PHENOTYPICFEATURE$, hearing loss, and minor cardiac defects.	false
+a0decff74e63c2c6d61059411c6648ab454fb528	However, as demonstrated in this review, decreased @DISEASE$ and osteoporosis are multifactorial processes, and @PHENOTYPICFEATURE$ and functions are not limited to BMD.	false
+48b1c4d867cd659192a1410131717deeff31e4ac	However, as demonstrated in this review, decreased BMD and osteoporosis are multifactorial processes, and @PHENOTYPICFEATURE$ and functions are not limited to @DISEASE$.	false
+7ac549a69c0a088016e25dc4679f1dab4e1f5991	To assess bone mineral density (@DISEASE$) in girls with menstruation disorders in the first years after menarche and to demonstrate that BMD value may be one of the indicators confirming an early diagnosis of hypothalamic @PHENOTYPICFEATURE$ or androgenisation complex.	false
+81a5a5e4002282163027696f89f3787b7ea6aeda	To assess bone mineral density (BMD) in girls with menstruation disorders in the first years after menarche and to demonstrate that @DISEASE$ value may be one of the indicators confirming an early diagnosis of hypothalamic @PHENOTYPICFEATURE$ or androgenisation complex.	false
+33da35ec0c1ae3673549a29f7832988f96fb59ce	Testosterone replacement therapy improves @DISEASE$ in young @PHENOTYPICFEATURE$ men.	false
+68b989bff16d98481d9722e82ce5ef9b9f1f87ce	There was a similar trend towards lower @DISEASE$ in uncontrolled hyperparathyroidism, hypercortisolism, @PHENOTYPICFEATURE$/GH deficiency and the state after surgery at the upper gastrointestinal tract.	false
+9fc4d1c65ffaa8a37529afec39c9b745f275cbdd	Untreated patients affected by central @PHENOTYPICFEATURE$, despite similar hormonal levels, displayed significantly lower @DISEASE$ and decreased LH and 25-OH vitamin D levels, compared with patients with primary hypogonadism.	false
+14345d5e987dfbaf6699206a7e0f79a2bc481294	The treatment effect was consistent regardless of @DISEASE$, age, height, weight, body mass index (BMI) and @PHENOTYPICFEATURE$ status at baseline.	false
+feb317cd2542b9d285b6f6ba902c2af561832ca1	@PHENOTYPICFEATURE$ was present in 27% of nonmenopausal subjects and was associated with reduced lumbar spine @DISEASE$ in subjects 30 years or older.	false
+3a478d590c5221b7fc328d99fd58a76bb5ba793f	@PHENOTYPICFEATURE$ is significantly associated with lower @DISEASE$ in postmenopausal women.	false
+00fb18532eb164930e1caf2455d244f118992207	Significant reduction (more than 2 SDs) of one of these enzymes was found in 47.4% of patients 50 years old or less with presenile "idiopathic" bilateral @DISEASE$.1% of other patients with @PHENOTYPICFEATURE$ aged 50 years or less, and 3.8% of patients with cataracts aged 51 years or more.	false
+904959b3232ae4a8aae0c56019614cb9d9c62b09	Significant reduction (more than 2 SDs) of one of these enzymes was found in 47.4% of patients 50 years old or less with presenile "idiopathic" bilateral @DISEASE$.1% of other patients with cataracts aged 50 years or less, and 3.8% of patients with @PHENOTYPICFEATURE$ aged 51 years or more.	false
+750265ceac030093390356b2fb9b9702327cd11a	In this retrospective study we studied 20 children (12 boys and 8 girls) in age from 7 to 20 years (mean 14 +/- 3.65 years), who had undergone surgery for unilateral cataract: 8 children had congenital @DISEASE$ patients had traumatic cataract; in 5 cases there were secondary cataract: 3 children had @PHENOTYPICFEATURE$ after uveitis, in 1 child cataract was due to steroid therapy because of nephrotic syndrome and 1 patient had neurodermatic cataract.	false
+887ce9a3de8d0c9ff2e2649b3c3182754d4cf7c3	In this retrospective study we studied 20 children (12 boys and 8 girls) in age from 7 to 20 years (mean 14 +/- 3.65 years), who had undergone surgery for unilateral @PHENOTYPICFEATURE$: 8 children had congenital @DISEASE$ patients had traumatic cataract; in 5 cases there were secondary cataract: 3 children had cataract after uveitis, in 1 child cataract was due to steroid therapy because of nephrotic syndrome and 1 patient had neurodermatic cataract.	false
+808eff9fac19f66f7b4817356816f46cfb9531f0	In this retrospective study we studied 20 children (12 boys and 8 girls) in age from 7 to 20 years (mean 14 +/- 3.65 years), who had undergone surgery for unilateral cataract: 8 children had congenital @DISEASE$ patients had traumatic cataract; in 5 cases there were secondary cataract: 3 children had cataract after uveitis, in 1 child cataract was due to steroid therapy because of nephrotic syndrome and 1 patient had neurodermatic @PHENOTYPICFEATURE$.	false
+ea2edea2c1255480d47dd5d07b070ab922005684	In this retrospective study we studied 20 children (12 boys and 8 girls) in age from 7 to 20 years (mean 14 +/- 3.65 years), who had undergone surgery for unilateral cataract: 8 children had congenital @DISEASE$ patients had traumatic @PHENOTYPICFEATURE$; in 5 cases there were secondary cataract: 3 children had cataract after uveitis, in 1 child cataract was due to steroid therapy because of nephrotic syndrome and 1 patient had neurodermatic cataract.	false
+7bdbde1bdf468094e3f6f169f56d339e63d058fb	In this retrospective study we studied 20 children (12 boys and 8 girls) in age from 7 to 20 years (mean 14 +/- 3.65 years), who had undergone surgery for unilateral cataract: 8 children had congenital @DISEASE$ patients had traumatic cataract; in 5 cases there were secondary cataract: 3 children had cataract after uveitis, in 1 child @PHENOTYPICFEATURE$ was due to steroid therapy because of nephrotic syndrome and 1 patient had neurodermatic cataract.	false
+66dbcf5c6351f8dfbb965bb9b0a00f49d592f002	The lens extraction was made in 28 cases with traumatic @DISEASE$ cases with complicated @PHENOTYPICFEATURE$ and 3 cases with monolateral congenital cataract.	false
+a3d58b7d781fa2f136ea68f9e7ecdfde014be745	Based on the observation of reduced stature in relatives of patients with @DISEASE$ (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic @PHENOTYPICFEATURE$ (ISS).	false
+7a04b52423e9e9db2d6ca39b904cf52ec043e676	Hyporeninemic @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+a0806e0338b5732c1ca586f49ad3febf2d8c787c	Bortezomib (BTZ) is a frequently used chemotherapeutic drug for the treatment of refractory @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a078dec5892482f311872e572b2c03c9ebb40fcd	@PHENOTYPICFEATURE$ @DISEASE$ is a rare and poorly understood variant of multiple myeloma.	false
+5005f4e84e79593287d203e65bc38959362654d3	@PHENOTYPICFEATURE$ myeloma is a rare and poorly understood variant of @DISEASE$.	false
+68ca12137a17125d72a32350525315cad615bfed	[@DISEASE$ type IgAk, @PHENOTYPICFEATURE$ and hyperviscosity syndrome].	false
+a0806e0338b5732c1ca586f49ad3febf2d8c787c	Bortezomib (BTZ) is a frequently used chemotherapeutic drug for the treatment of refractory @DISEASE$ and @PHENOTYPICFEATURE$.	false
+ca29ca38b6e14053f81e7e498f16fd0a4e4e092f	@PHENOTYPICFEATURE$ @DISEASE$.	false
+ec2b6a3e7a15986dbdf8b55aeada8a57f411e27b	Xanthoma of the liver in a patient with @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+259b10789ce676ec48c2416f184042695b03edc7	@PHENOTYPICFEATURE$ and proptosis due to isolated lateral rectus plasmacytoma in a patient with @DISEASE$.	false
+12f80729843feb8e2439a981571298a86f4ccafe	@DISEASE$ (MM) is a malignant disease with a 10% frequency among all @PHENOTYPICFEATURE$.	false
+42658132853249bb0cf11b234044e9c47e4f9d3b	The following associated @PHENOTYPICFEATURE$ were found: MDS/MPS, AML, MPS, MDS, @DISEASE$, and unclassifiable myelogenous malignancy.	false
+6135e4d4aba3afc5ac3aef39ff76599692712371	This study concludes that while recombinant and chimeric sCD23 may be useful in blocking IgE binding to immune cells and decreasing IgE synthesis by B-lymphocytes, the production of proinflammatory cytokines, particularly @PHENOTYPICFEATURE$ necrosis factor-alpha will enhance immune responses in cases of asthma, allergy, and @DISEASE$.	false
+0db62f1982a459fe27cfe0075162a321dbcec633	These techniques may be helpful for evaluation of @PHENOTYPICFEATURE$, hepatic fibrosis, nonalcoholic fatty liver disease, @DISEASE$, and hepatic masses in children.	false
+381f9c6921dd5297e6f7c9b96dae2ef831739a5f	Investigation of the patients by questionnaire revealed such complications as @PHENOTYPICFEATURE$, striae atrophicae, abdominal pain, headache, cataract, @DISEASE$, and cardiac complication in some patients.	false
+c106a41fb7c49857fdf540ef2f4b59aeb6af3944	All four patients with @DISEASE$ had focal femoral @PHENOTYPICFEATURE$ in the painful hip.	false
+f0cb9ad59254e63befabdb1682b7a7607dbca1e2	On the basis of this study, we recommend prophylactic epiphyseodesis of the greater trochanter as a means of minimizing trochanteric @PHENOTYPICFEATURE$ and resultant Trendelenburg gait in older child with @DISEASE$.	false
+413c6ca583ee7ecd207111c4c72728fc2c088130	The prevalence of secondary osteochondroses, @PHENOTYPICFEATURE$, and hypothyroidism was calculated separately for patients with @DISEASE$ and control individuals based on the presence of ICD codes indicative of these conditions.	false
+55be13040880fa823365111f853aeb5210d8d5b9	During a follow-up of one year not one case of @DISEASE$ was diagnosed and the late clinical and radiographic changes were minimal with moderate @PHENOTYPICFEATURE$ of the femoral head in 33% and widening of the joint space in 14.2%.	false
+1858c1bfdef017986ab273585754aac499a2863b	The causes of the @PHENOTYPICFEATURE$ were @DISEASE$, avascular necrosis after treatment of developmental dysplasia of the hip, septic arthritis and rheumatoid arthritis.	false
+831671cc5ef038f4202e96f75e94a925a390566f	(1) Do patients with @DISEASE$ have an increased prevalence of secondary osteochondroses at locations other than the hip? (2) Is the concept of Legg-Calv?-Perthes disease a systemic etiology supported by a higher prevalence of the metabolic diseases @PHENOTYPICFEATURE$ and hypothyroidism?	false
+b011ea1e6c7c3edfc4d58ee9dfe444399b9112e9	Patients with @DISEASE$ had an increased adjusted risk of an association with @PHENOTYPICFEATURE$ (RR, 2.8; 95% CI, 1.9-4.0;	false
+c8d5b5fc25e9d437e098175bb3a475c04390ce12	[@PHENOTYPICFEATURE$ and compensatory growth in @DISEASE$].	false
+82027352e27d630a3b8060bb6354067f5a0f9d69	@DISEASE$ (HCH) is a skeletal dysplasia characterized by @PHENOTYPICFEATURE$.	false
+7ce50ddf2a653476c3cc9256fd92224bda85801b	Achondroplasia (ACH) and @DISEASE$ (HCH) share clinical features characterized by @PHENOTYPICFEATURE$ with rhizomelic shortening of the limbs.	false
+8b86b2ed6389f5a85996aab49048fc2d70c957aa	@DISEASE$ is a genetic disorder of @PHENOTYPICFEATURE$.	false
+ea04384406728230b1b3a7a8621bc149bd422d95	@DISEASE$ is characterized by a @PHENOTYPICFEATURE$ with rhizomelic shortening of the limbs.	false
+d1a7eae0eae818f417624d41464da6d701e1dc7a	Dyschondrosteosis (DCO) and @DISEASE$ (HCH) are common skeletal dysplasias characterized by @PHENOTYPICFEATURE$.	false
+50842f099dd41c9043f9d904dbf14f23f17f090a	To assess the frequency of N540K and G380R mutations, and changes at the 650 locus in Chilean patients with idiopathic @PHENOTYPICFEATURE$, @DISEASE$ and achondroplasia.	false
+38e449b348617887c29fb288ac05c83dc97489b1	@DISEASE$ is an autosomal dominant skeletal dysplasia characterized by @PHENOTYPICFEATURE$.	false
+fdeff3d51a103450ac6821d38c88443c788423a9	@DISEASE$ (HCH) is the mildest form of chondrodysplasia characterized by @PHENOTYPICFEATURE$, short extremities, and variable lumbar lordosis.	false
+177833e82cc7d139d158ae9956f86d910a139da8	She was subsequently diagnosed with @DISEASE$ at the age of 6 years when @PHENOTYPICFEATURE$, stocky habitus and macrocephaly were observed.	false
+fb4a7b3c80d09b2900c120c07016c206f1586599	@DISEASE$ is a cause of @PHENOTYPICFEATURE$ and characterized by minor clinical manifestations.	false
+78e542e7a650a7109d3d9fffae3ddcb276ae5d67	Acro-cardio-facial syndrome (@DISEASE$) is an infrequently reported, variable condition characterized by split-hand and split-foot malformation and @PHENOTYPICFEATURE$ (CHD), along with cleft lip and palate, genital anomalies, unusual face and intellectual disability.	false
+d1177ca46bee1d24e2eabfc4b83b9411ca8748e4	We report on a baby presenting with ectrodactyly, @PHENOTYPICFEATURE$, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (@DISEASE$).	false
+b2d827ed96759fffd1ff8c6019243d7ee4fd722f	Acro-cardio-facial syndrome (@DISEASE$) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, @PHENOTYPICFEATURE$ (CHD), genital anomalies, and mental retardation.	false
+d3dafa6806a83b8cd0a75c879ebdef1952abc235	[Bonnet et al. (2010); J Med Genet 47: 377-384] recently suggested a @DISEASE$ with several common features, including severe @PHENOTYPICFEATURE$, lack of speech, hypotonia, significant growth restriction, and distinctive facial features.	false
+213a40092ef436e543e0863a1d190dbd495cef10	@DISEASE$ (MIM: 613509) is a new genomic disorder characterized by @PHENOTYPICFEATURE$, absent or severely delayed speech, growth retardation, hypotonia, variable brain malformation, and facial dysmorphism.	false
+e32ade20f4a723340547881a390c344f36dbc7c8	Weight loss, pleuritis, pericarditis, @PHENOTYPICFEATURE$, splenomegaly, hepatomegaly, and @DISEASE$ have also been reported in association with rheumatoid vasculitis.	false
+95db7b0284055ec537212594e3e8b6a73ff0f263	A 53 year old man with @DISEASE$ presented with @PHENOTYPICFEATURE$ and fever.	false
+533aad004b16cfaa53e976a2cb20397d8a6779e0	Mutations in the ABCA4 gene are responsible for a number of related retinal degenerative diseases, including Stargardt @PHENOTYPICFEATURE$, @DISEASE$, retinitis pigmentosa, and age-related macular degeneration.	false
+1b8d957d8755bbc5691e5e0ccd8c9bb8f5b820e4	Alstr?m syndrome is a multiorgan pathology characterized by @DISEASE$, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, @PHENOTYPICFEATURE$ in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.	false
+915bf1d78cd4c33032bbdf736ce982747c83ba7c	Alstr?m syndrome is a rare autosomal recessive genetic disorder characterized by @DISEASE$, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, @PHENOTYPICFEATURE$ in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.	false
+6d58b119626d62ac7dcd5d367b3de0a7ad16b288	Mutations in the gene encoding ABCR (ABCA4), a photoreceptor-specific ATP-binding cassette (ABC) transporter, are responsible for autosomal recessive Stargardt disease (STGD), an early onset @PHENOTYPICFEATURE$, and some forms of autosomal recessive @DISEASE$ and autosomal recessive retinitis pigmentosa.	false
+1ddeefa7cfe3d03086d4af89d553023032a5c827	We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, @DISEASE$, night blindness, Oguchi disease, Stargardt disease, @PHENOTYPICFEATURE$, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome.	false
+915bf1d78cd4c33032bbdf736ce982747c83ba7c	Alstr?m syndrome is a rare autosomal recessive genetic disorder characterized by @DISEASE$, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, @PHENOTYPICFEATURE$ in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.	false
+c8f73b2a2b838694286331bf160052ba6353e8bd	Two hundred forty unrelated patients diagnosed with cone dystrophy, @DISEASE$, macular dystrophy, @PHENOTYPICFEATURE$, or Stargardt disease, 95 control individuals, and 2 unrelated families with a distinctive type of cone dystrophy.	false
+395c9b6dc986b6df552935b0dd16282387a98bc1	A Chinese quartet family with two siblings predominantly affected by @DISEASE$ and @PHENOTYPICFEATURE$ were recruited.	false
+2e4002480a9e70cb46da09d242f4a9c00737c08e	We report one case of NF and recurrent malignant fibrous histiocytoma, a @PHENOTYPICFEATURE$ that is uncommon in childhood, and another case of the concomitant occurrence of NF, @DISEASE$, and a paratesticular rhabdomyosarcoma.	false
+733f82a362009612d58270f0c7bada28182dc402	Three cases are reported to demonstrate particular features: Case 1: A 51-year-old woman with lethal epistaxis with no obvious bleeding source; Case 2: A 77-year-old man with treated nasopharyngeal carcinoma who died from epistaxis arising from a markedly neovascularized @PHENOTYPICFEATURE$ bed; Case 3: A 2-year-old boy with @DISEASE$ who died from epistaxis with airway obstruction in addition to gastrointestinal bleeding.	false
+4ad42c840dfe8e48d39e0abd80b147fdb660da23	Our report presents only the fourth case in literature wherein this @PHENOTYPICFEATURE$ presented in a patient with @DISEASE$.	false
+574c3937f7f04b79d0dde5330037890b4c45a864	We investigated the efficacy of liver-directed gene therapy using lentiviral vectors in a large animal model of @DISEASE$ and evaluated the risk of insertional mutagenesis in @PHENOTYPICFEATURE$-prone mouse models.	false
+073ea121107cadc5a49d4c2d8e1a3e75309aafea	The complete syndrome includes oculocutaneous @PHENOTYPICFEATURE$ with photophobia, neurologic features, recurrent infections, and @DISEASE$.	false
+5f4af07c921279364ced0db23350dd8ce9e15c6e	Clinical phenotypic expression of @DISEASE$ is highly heterogeneous, and some infants may develop refractory secondary @PHENOTYPICFEATURE$.	false
+9ae0dc456d8c5f298f8ef93014e1570251889de4	We report on a 12-year-old boy with @DISEASE$ who, when treated with 75 mg/kg per day of vigabatrin, showed marked amelioration of symptoms but also EEG changes and two @PHENOTYPICFEATURE$.	false
+b4503f3215cb08f6e89a21229da33bef7bc40ff7	Computed tomography lung volume estimation to facilitate protective mechanical ventilation in a patient with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+f6611037d832b686884edbc8537db637790e9356	@DISEASE$ is a relatively frequent genetic disorder that may lead to limb weakness, motor-@PHENOTYPICFEATURE$, hydrocephaly, and respiratory disorders.	false
+ca7e9dfe6b3caea94bb3b09aea4d226fac0e7bfd	This article presents congenital trigger finger, congenital clasped thumb, Madelung's deformity, and other skeletal @PHENOTYPICFEATURE$ that are characteristic of generalized bone and connective tissue disorders, including @DISEASE$ and Marfan syndrome.	false
+a56a087fac0634d13b72f2e93d3903b8af5a4087	This mutation has been previously described in one case of TD1 and three cases of severe @DISEASE$ with acanthosis nigricans and @PHENOTYPICFEATURE$.	false
+d7a787cf83fe63bbaaa49d2edf90673663e78901	Two types of @DISEASE$, @PHENOTYPICFEATURE$ and atrophic types, can be seen.	false
+dfbabd266c54c0374f21f7c6a234ca0a6fdfdc16	A 15-year-old boy developed an @DISEASE$ @PHENOTYPICFEATURE$, fever, knee pain, syncope, and was found to be in complete heart block requiring temporary transvenous pacing.	false
+496f3a610fd23d1ba72a5d115d793c69d47537ab	Skin lesions of primary SS, especially purpura and @PHENOTYPICFEATURE$ @DISEASE$, are related with anti-SS-A/Ro and SS-B/La antibodies.	false
+77024c0eed7eadf4ee8407f1bcfe871cfb54ea81	Recurrent abdominal pain, failure to thrive or patients only with @PHENOTYPICFEATURE$ and @DISEASE$ are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD.	false
+d1ae44ba518b4d8e5a7b2be5a89c338b3ba7ca21	A 68-year-old man was admitted because of anemia, @PHENOTYPICFEATURE$, and thrombocytopenia and was diagnosed as having MDS (@DISEASE$ with excess of blasts) on the basis of the findings of bone marrow aspiration and chromosomal analysis.	false
+35bd409793be91d1889c987bfdf3e303bc853808	A formerly healthy man was admitted for bone pain, @PHENOTYPICFEATURE$, and jaundice with severe @DISEASE$.	false
+421ddc5edeceafea353c95d2e366c5d6dc44f41f	The diagnosis was suspected because of prolonged @PHENOTYPICFEATURE$, with or without other manifestations, i.e. congestive heart failure, @DISEASE$, or paroxysmal atrial tachycardia.	false
+7ae57f3e1201f10c4dd8e86a0c43cbdb3d5d6cfe	An 82-year old, elderly woman who had been found to have myelodysplastic syndrome (MDS)-@DISEASE$ three years previously, complained of @PHENOTYPICFEATURE$ and abdominal pain, and was hospitalized.	false
+7aafe3c8e1b75ea526cced630d644e2be4cf6afc	There are unusual manifestations like @DISEASE$, rickets, recurrent abdominal pain and @PHENOTYPICFEATURE$ without other gastrointestinal manifestations.	false
+52c8f22957a465b6b520e50d186025eff2fed76a	Twenty-two (49%) patients were referred to us by hematologists, endocrinologists or gynecologists for evaluation of @DISEASE$ in 10 (2.2%), @PHENOTYPICFEATURE$ in 6 (13.3%), metabolic bone disease in 2 (4.4%) and secondary infertility or delayed menarche in 4 (8.8%).	false
+aa8e88e8062e47a086bfb23aeeb7c7ffecde9cc8	Such clinical conditions are often referred to as @DISEASE$, paraoxymal nocturnal hemoglobinuria, hemolytic uremia and autoimmune hemolytic anemia, all of which could be categorized as the cancer @PHENOTYPICFEATURE$.	false
+b7216de3c8274c7e83b8f6cb578a9930f892ecd1	A 61-year-old man with myelodysplastic syndrome type @DISEASE$ presented with @PHENOTYPICFEATURE$, rash, and polyarthralgia 5 days after transfusion of red blood cells (RBCs).	false
+1b9521a48ad3b3e3d47400553f0ce114678fb4b8	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, brittle cornea syndrome, and posterior @PHENOTYPICFEATURE$), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and telecanthus, @DISEASE$, and spherophakia with short stature).	false
+4f491f0b28db985d9b45b1c59659f84558b2f166	Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric @PHENOTYPICFEATURE$, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, brittle cornea syndrome, and posterior microphthalmos), and currently only reported on the Arabian Peninsula (such as microcornea with myopic chorioretinal degeneration and telecanthus, @DISEASE$, and spherophakia with short stature).	false
+2a14c1244fe30148c40d5a4a406f12f3e5938515	In adult @DISEASE$, @PHENOTYPICFEATURE$ are a common cause of excessive daytime sleepiness and fatigue.	false
+c193b062c484f2957e773f17609c69583974cce0	The aim of this study was to assess whether @PHENOTYPICFEATURE$ is a feature of @DISEASE$ (GSD IIIa) in adult patients.	false
+5b71d1117cd13cad6974ad8a238afdb6857eacb2	@PHENOTYPICFEATURE$ in @DISEASE$: Fact or myth?	false
+53220c6c228c431495b68c294d7e9b9de699bad7	It has clinical care consequences since @PHENOTYPICFEATURE$ in late-onset @DISEASE$ could worsen patient's disability and needs particular care such as proprioceptive physiotherapy.	false
+1dd1e0a665e03aba4da72ff15656b9240a5070b3	Mutations in the plectin gene (PLEC1) cause @DISEASE$ associated with @PHENOTYPICFEATURE$, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes.	false
+718761a8fa17956ec16c13635f3247d94d49b462	One was that a hereditary disease, epidermolysis bullosa simplex (@DISEASE$)-MD, characterized by severe skin blistering combined with @PHENOTYPICFEATURE$, is caused by defects in the plectin gene.	false
+80ee25dbffd8bb1daf980aeaf6595c0a07d24813	The skin phenotype of these mice was similar to that of patients suffering from epidermolysis bullosa simplex (@DISEASE$)-MD, a hereditary skin blistering disease with @PHENOTYPICFEATURE$, caused by defects in the plectin gene.	false
+f4143bb0523bbbd44f9a1fc1dcb1f667c10c7cb0	@PHENOTYPICFEATURE$ and @DISEASE$ of the curly-tail mouse.	false
+2029fee64a3fdbd91d022e5ca04d5aef21f3ea9f	Periconceptional multivitamin/folic acid supplementation can reduce the first occurrence of @DISEASE$, oral clefts, @PHENOTYPICFEATURE$, and urinary tract defects.	false
+d56de33d18966f9d559d78ba633d9f2c363bdb8e	Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in @PHENOTYPICFEATURE$, craniosynostosis, @DISEASE$, and neurodevelopmental retardation.	false
+70c664148a0727230a1f7679e5a0428408fd03b9	Pregnancy @PHENOTYPICFEATURE$ appeared to be a risk factor of @DISEASE$ (OR = 6.525,	false
+a4ca746b63b2e5c3bad5ef782ba388a18bcfbb94	This protective effect can be explained by lower prevalence of @DISEASE$, @PHENOTYPICFEATURE$, malformations of the urinary system, limb deficiencies and hypertrophic pyloric stenosis.	false
+11c14333bf23f963452efe84c80f983548969d4f	Examples include common congenital abnormalities (such as @DISEASE$, @PHENOTYPICFEATURE$, cleft lip+/-palate etc.) and chronic diseases (such as coronary heart disease, essential hypertension, diabetes mellitus etc.).	false
+6c4c0a4049cbc11dd406fb605ecf3d3815ea0cbc	Maternal @PHENOTYPICFEATURE$ and @DISEASE$.	false
+22bb3385aae1c2ee8eee3d0a46858c89e834346b	Complete deficiency of HIF-1alpha resulted in developmental arrest and lethality by E11 of Hif1a-/- embryos that manifested @DISEASE$, @PHENOTYPICFEATURE$, and marked cell death within the cephalic mesenchyme.	false
+2bb4a546b9e3f4c84e7ad2f2de611afeadf29ffd	@PHENOTYPICFEATURE$ during early pregnancy can induce neural tube defects (@DISEASE$) in embryos.	false
+2bb9a8482a11b3d3b5a5680bcb6fb148aecd87b0	@PHENOTYPICFEATURE$ during early pregnancy can induce @DISEASE$ (NTD) in embryos.	false
+af2ef3bde289f69e4469a2324b72556ec1eb6ed6	Elevated serum homocysteine (Hcys) levels have been suggested to contribute to congenital @PHENOTYPICFEATURE$, @DISEASE$, and cardiovascular diseases.	false
+f259137f769faf0c73e306595fc8cab06433e9b3	Persistent @PHENOTYPICFEATURE$ in @DISEASE$.	false
+38c9270b0df714832aed82e4b46797aee1c69cea	@PHENOTYPICFEATURE$ due to growth hormone deficiency associated with Cushing's disease and @DISEASE$.	false
+3edd5dd074a2372b1e18032f012d93d5b34a60e5	A 45-year-old-male who had underlying @DISEASE$ and presented with @PHENOTYPICFEATURE$ and dry cough.	false
+4e65f057ae7705debae36d2b1d7db8d659b09dc7	The personal history revealed @DISEASE$ and, during the last year, episodes of @PHENOTYPICFEATURE$ with migrant arthralgia and cutaneous lesions.	false
+ab747b2353fc968aac0d2efd33f2dd898b6563fc	Recurrent hearing loss and @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+1d64a0c0a94c71dde1a1b3d21024dce061bd2a34	A 20-year-old man with @DISEASE$ was admitted because of @PHENOTYPICFEATURE$, eruption and lymphadenopathy.	false
+189d64e57b8ae5fcbb01d5abe6a9f6d1f0657259	Chronic @DISEASE$, colonic adenocarcinoma and @PHENOTYPICFEATURE$.	false
+21bc80e25c1b9b4f7f7855e06048c49ad99e89fa	@PHENOTYPICFEATURE$ was present in 19% with Crohn's disease, and 5% with @DISEASE$, and was severe in 8% with Crohn's disease.	false
+1c27a0923d48e00319dad79beae35754ee962b93	@PHENOTYPICFEATURE$ was noted only in those with CD and not with @DISEASE$.	false
+df81ddd3e548dd63e6bf58376053e145e39340e1	Bloody diarrhea, @PHENOTYPICFEATURE$, and pancytopenia in a patient with active @DISEASE$.	false
+f9a34778e90d514bd20e60719c2eb6f49ea064d4	We report on an 18-week fetus with cyclopia, alobar holoprosencephaly, complex congenital heart defect, anal atresia, oligosyndactyly, @DISEASE$, and @PHENOTYPICFEATURE$ with trisomy 4. Structural anomalies were detected on routine ultrasound of the pregnancy of a 17-year-old G3 P1 TAB1 woman with sickle cell trait.	false
+5400c928a94c9e3ba0cf3993b8db93d87c807b0f	Ultrasonography in a female fetus revealed cystic cervical @DISEASE$, severe micrognathia, and vertebral and upper @PHENOTYPICFEATURE$ suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation.	false
+7ee6cbf7db421eed3c326dc0d93b0fccf0954f7d	The following factors were associated with survival: advanced maternal age, earlier GA at diagnosis, prematurity, increased nuchal translucency, pericardial effusion, associated cardiac defects (especially AVSD), chromosomal abnormalities, hydrops, @DISEASE$ and @PHENOTYPICFEATURE$.	false
+b8fa8a5070628f109e961e5f461804d64e412d7b	A total of 18 normal embryos and fetuses and 21 abnormal fetuses (one case each of thoracic meningocele, thickened nuchal translucency, multicystic dysplastic kidney, gastroschisis, omphalocele, and ovarian cyst, five of hydrops fetalis, three of @PHENOTYPICFEATURE$, three of chromosome abnormality, two of @DISEASE$, and two of amniotic band syndrome) at 7-36?weeks' gestation were studied using the 3D/4D HDlive rendering mode.	false
+a5dfaabfc62724df2d2d3343fb049cda635e729e	Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, @DISEASE$, and @PHENOTYPICFEATURE$: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.	false
+54d4154ef7994cb4695a4c13a38d140bf2fd3bae	The diagnosis was based on antenatal sonographic demonstration of complete fetal akinesia and a large @DISEASE$ with severe @PHENOTYPICFEATURE$ evident on postmortem examination.	false
+662b670abf81459227c0bf41300092cb8f6eb980	This syndrome is characterized by multiple @PHENOTYPICFEATURE$ with pterygia, facial clefting, intracranial abnormalities, @DISEASE$, progressive fetal edema, and fetal death by midgestation.	false
+e78b86a67614b91c2e4b7c7fe08724b4c5fda8e4	In 2013, the AHA/ACC/@DISEASE$ @PHENOTYPICFEATURE$ management guidelines were published, in essence suggesting that any dietary scheme seems to be effective for weight loss, as long as it can induce a sustainable energy deficit.	false
+0777d5c535cb2cb844d2db442be14227e47fc61f	@DISEASE$ patients have a high frequency of CTS; therefore, this condition must be suspected in patients with associated @PHENOTYPICFEATURE$ and diabetes mellitus.	false
+2be5adfd9d6c565cf961a7e8dfffa98199ff6390	The emerging obesity epidemic and accompanying health consequences led The Obesity Society (@DISEASE$) in 2008 to publish a position paper defining @PHENOTYPICFEATURE$ as a disease.	false
+7ec1fc013f60612985122ceb83656480fc7be349	We have measured ischemia-modified albumin (IMA), total antioxidant status (TAS), total oxidant status (@DISEASE$) and high-sensitivity C-reactive protein (hsCRP) levels in obese and normal-weight subjects to investigate if IMA can be used as a biomarker of oxidative stress and inflammation and if IMA was an independent determinant of @PHENOTYPICFEATURE$ or not.	false
+afaf878f943374c03b38c71088d8eea2a3caea51	The aim of this study was to investigate serum paraoxanase-1 (PON) activity, total oxidant status (@DISEASE$), total antioxidant status (TAS), and the oxidative stress index (OSI) in @PHENOTYPICFEATURE$; and to compare the results with data from healthy subjects.	false
+74d3397d481cc7e061fea3ad3aa99a8539f667ec	In a study performed on transformed (@DISEASE$/3A) and normal syngeneic rat cells (FG/2) to identify the molecular mechanisms which regulate cell adhesion and contact inhibition in cell transformation, we investigated the effects of @PHENOTYPICFEATURE$ promoters on cell to cell adhesion of rat fibroblasts.	false
+b439a75dc3881ea2e858439185e1be0bd4f8234e	Moreover two distinct @PHENOTYPICFEATURE$-associated apoptotic phenotypes emerged: the first pattern was the typical one and was found in cells with a low transition through the S/G2 phase (Jurkat), and the second one was mainly characterised by a cell death derived from micronucleated and mitotic cells, as a consequence of a low transition through the M/G1 phase (@DISEASE$/3A).	false
+95736264f60f76134f7043ba9e1aab2f119fb49c	The physical features include @DISEASE$-facial hypoplasia, uncombable hair, @PHENOTYPICFEATURE$ and bifid uvula, lacrimal duct obstruction and dry skin.	false
+2fff3add9e31a4b600bbf1416169d1507059c09c	Computed tomography of the brain showed that @DISEASE$ patients had significantly greater @PHENOTYPICFEATURE$ of the ventricular system, while cortical atrophy did not differ significantly among the three groups.	false
+65e767d5a90ef0a599cf3025ba801c9cf51d7d36	Anterior versus abdominoperineal resections in the management of @DISEASE$-rectal @PHENOTYPICFEATURE$.	false
+0c23d91bbe1c74d05c266870f25db1c0c910e761	The specimen showed a 2.5?cm @DISEASE$-rectal @PHENOTYPICFEATURE$.	false
+3ad0685d7ad698280170d992c14a5d27c3e3b1f5	We present a previously undescribed syndrome characterized by triangular facial appearance, @DISEASE$-facial hypoplasia, @PHENOTYPICFEATURE$ and mild sensorineural hearing loss in two siblings.	false
+9c58be303b57cabef25b365a120d0b03d6c019f1	Rare malignant @DISEASE$-femoral @PHENOTYPICFEATURE$ in the first decade of life.	false
+fde571b8afcd66c8fb033795cafe514449c6273c	Characteristics of the disorder include a short trunk and extremities, @DISEASE$-face hypoplasia, @PHENOTYPICFEATURE$, myopia, retinal detachment, and hearing loss.	false
+2e588c09e9be88b30c2203d354904e59fb43ef59	Further analysis is required to validate carina as a tumour surrogate for @DISEASE$-oesophageal @PHENOTYPICFEATURE$.	false
+63f67dcd51e5905da5d96cb9463836b1565c207b	Further analysis is required to validate carina as a @PHENOTYPICFEATURE$ surrogate for @DISEASE$-oesophageal tumours.	false
+c0ec6830a3325f5b3bfa7e05dc2722628558fd03	There is more bladder and sexual dysfunction in low rectal tumours compared to @DISEASE$-rectal @PHENOTYPICFEATURE$.	false
+c7b6c3e3302a1f93b660df2c3e59d6861edca93c	There is more bladder and sexual dysfunction in low rectal @PHENOTYPICFEATURE$ compared to @DISEASE$-rectal tumours.	false
+0e8e76f581caeed5db6260fef4548da242404a06	The pattern usually consisted of deficiencies in pre- and postnatal development, @DISEASE$-facial hypoplasia, @PHENOTYPICFEATURE$, atrial or ventricular septal defects, patent ductus arteriosus, hypospadias, hernias, and other less frequent anomalies.	false
+9e477a54a1884d741479ad1297afcf274e26ed9a	The most widespread of these conditions are the chronic myopathy and chronic @PHENOTYPICFEATURE$ of @DISEASE$.	false
+3b8f36ef94a2f7557b59ac0045efab9bdefacfbc	To observe the effects of acupuncture on neurofunction and neuropsychological factors of chronic @DISEASE$ @PHENOTYPICFEATURE$ (CAPN) patients.	false
+45c1425f5012f59b28d9aa5e094b1ddaddd8106f	@DISEASE$ @PHENOTYPICFEATURE$.	false
+e5c07f4d8ec15ecb62843622ef630222bae8cbdb	@PHENOTYPICFEATURE$, cerebral atrophy, and intellectual impairment was investigated in 46 males with @DISEASE$ nervous system damage.	false
+a7cb4e481d2b489f71445810143b678a621398d9	A limited number of case reports have been published on neuroarthropathies caused by other forms of neuropathy, including @DISEASE$ @PHENOTYPICFEATURE$.	false
+6556d9238c33ed65b527fc5057e6d94f3fcb215f	Prognosis of @DISEASE$ @PHENOTYPICFEATURE$.	false
+09c13d5009efae50305894d0bc43d10984c31b0c	Experimental model of @DISEASE$-related @PHENOTYPICFEATURE$.	false
+385e5f7fba769223bc578503e2b639748c5cb303	Avoiding @DISEASE$ consumption would be especially helpful in reducing injuries among people with @PHENOTYPICFEATURE$.	false
+bd35cd7a6042d1ff7d364d674074d9ca32eb6656	Chronic @DISEASE$ consumption induces a painful small-fiber @PHENOTYPICFEATURE$, the severity of which increases during alcohol withdrawal.	false
+1c8a53d619bc6e97fd67139a197c5e0ac215ae5b	Finally, the possible role of thiamine deficiency in @DISEASE$ @PHENOTYPICFEATURE$ is reviewed.	false
+9ac8e311e6ade794fadcd18f27d5fd5f75c67857	A case report of reversible @PHENOTYPICFEATURE$ in a patient with @DISEASE$ associated with a novel nonsense mutation in the penultimate exon of SOX10.	false
+8fb075507dae29bfb0be6cfd264e144d97c2a273	Mutation of TBCE causes @PHENOTYPICFEATURE$-retardation-dysmorphism and @DISEASE$.	false
+392e2fa6dcdbdf3dce9879de7d69db3d95497706	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (@PHENOTYPICFEATURE$, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and @DISEASE$ (related to the RASA1 mutation).	false
+b4c153ac62c3502d914d2d0684ddb808b3f9571b	Case 1: A 45-year-old man, admitted for symptomatic @PHENOTYPICFEATURE$, was diagnosed with advanced @DISEASE$ and severe hyponatremia due to the syndrome of inappropriate secretion of antidiuretic hormone.	false
+b3e01378cd32ce1f629ec562f56ec600108cbbc7	First, to describe a patient with a 2-year history of metastatic @DISEASE$ who had been treated with nivolumab a few months before presentation with the signs and symptoms of severe @PHENOTYPICFEATURE$ and hypoparathyroidism.	false
+d8b4e3a9342a6c3415b28f0f9a7c176ff019c25f	Ectopic adrenocorticotropic hormone production by @DISEASE$ is one rare cause of Cushing's syndrome, and may be associated with significant @PHENOTYPICFEATURE$.	false
+29a866ade9d7893bd7cd1cd70825f0ba131467de	@DISEASE$ presenting with otalgia and @PHENOTYPICFEATURE$.	false
+3373d5f2c4dde01be1b0a517d6fa0655803d7495	High smoking and @PHENOTYPICFEATURE$ rates in the Appalachian region, and likely in high poverty urban areas, appeared to coincide with high rates of squamous cell and @DISEASE$.	false
+f7dabf358ac1cd2e47b5a89972cea3c18d19534d	Lambert-Eaton myasthenic syndrome is a rare autoimmune neuromuscular and autonomic disease that produces fluctuating muscle weakness, hyporeflexia, and @PHENOTYPICFEATURE$, and often is associated with @DISEASE$.	false
+4ae4119ad396a7c85b3f9520714629477b47ceeb	Twenty five patients, seven with transudative PEs due to @PHENOTYPICFEATURE$ and 18 with exudative malignant PEs (7 with @DISEASE$ (SCLC) and 11 with nonsmall cell lung cancer (NSCLC)) were included in the study.	false
+7a3d3a28f443da2527eb2e9e414c63609513da7b	Paraneoplastic encephalitis presenting as pure word @PHENOTYPICFEATURE$ in a patient with @DISEASE$.	false
+31558e05611841aacd75482f326b58f496f2f3b5	Tumor markers were determined in benign patient groups with nonspecific pleurisy, tuberculous pleurisy, empyema, @PHENOTYPICFEATURE$ and in malignancy groups consisting of adenocarcinoma, @DISEASE$, mesothelioma, epidermoid lung cancer.	false
+41e60798eedd3ef58f46cf7fa93aa46c09f2d6f3	Here we report of a girl with @DISEASE$, severe mental retardation, @PHENOTYPICFEATURE$, hypoplasia of cerebellar vermis and horseshoe kidney.	false
+d005f49ab34df5be588817e6e993367fbd74319a	Here we report of a girl with @DISEASE$, @PHENOTYPICFEATURE$, agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.	false
+fad7ee5370d8e917befa65e2470cb416d592f88d	@DISEASE$ is an autosomal recessive unusual type of cr?neo @PHENOTYPICFEATURE$, that presents frequently as fracture in a pathological bone.	false
+ac1aa9114d2c4da8c2bf8821d64a5ba622654c35	A 30-year-old man presented with monocular @PHENOTYPICFEATURE$ secondary to chronic papilledema, due to an @DISEASE$ involving the spinal cord.	false
+c00bfa1aeb121e06667fd24efb82b4e4cbe89e4d	Histologies included neuroblastoma (30%), osteosarcoma (18%), @PHENOTYPICFEATURE$/lymphoma (12%), rhabdomyosarcoma (12%), medulloblastoma/@DISEASE$ (12%), Ewing sarcoma (8%), and other (8%).	false
+5cf60d166db5f58b4935d435a3eea7813c3e3402	Clinical features of @DISEASE$ include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), @PHENOTYPICFEATURE$ (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects).	false
+cca59274844fbb1671e420bbbba72ce9b5bf708a	Thus, the criteria we propose to establish the diagnosis of the @DISEASE$ in a chromosomally normal sporadic case are the presence of cardiac malformation other than isolated patent ductus arteriosus, @PHENOTYPICFEATURE$, and cleft palate or ocular coloboma or four of the following seven findings: prominent forehead, prominent occiput, hypertelorism, down-slanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia.	false
+0fad64c5052d5fdbbb4859e5201a48bc5d10ef56	Classical symptoms of intracranial @DISEASE$ were noted in this patient, including headaches, @PHENOTYPICFEATURE$, third nerve palsy and sixth nerve palsy.	false
+48b52ba024e199db3ae0f83c7ce0eb97faf868a5	@DISEASE$ (FMD2) is a @PHENOTYPICFEATURE$ with supraorbital hyperostosis combined with undermodeling of the bones, joint contractures and some extraskeletal features.	false
+6eda7c92db1e0c0486e2235989de492fbbb164f0	@DISEASE$ (FMD2) is a skeletal dysplasia with supraorbital hyperostosis combined with undermodeling of the bones, @PHENOTYPICFEATURE$ and some extraskeletal features.	false
+64f09ac57742fc3e49dd545e74e7c7aaaf4a39cf	We demonstrate a potentially novel application of fluorescence microscopy to detect subclinical changes to the RPE, a technical advance that has direct implications for improving our understanding of diseases such as oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, and Bietti crystalline dystrophy.	false
+e74937e82fea403b7d37c9baf75204c4d37efd59	In addition, most of the occasional symptoms described in @DISEASE$ patients, such as cerebellar ataxia, abnormal @PHENOTYPICFEATURE$ spatial visual attention, mirror movements, and renal aplasia, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.	false
+a37fae21ea313d7810ad7fd182f3fc2a303f0257	Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital hypoplasia, @PHENOTYPICFEATURE$) syndrome, have been reported in patients presenting with @DISEASE$ (KS) or congenital hypogonadotropic hypogonadism (CHH).	false
+74a1cf9ec35d29af7fe92240f9dcbc1e0c7eacea	We report here three paediatric cases of @DISEASE$ with unusual phenotype in two unrelated patients with severe @PHENOTYPICFEATURE$ (hypoplasia or agenesis of external ear) associated with classical features, such as cleft palate, dental agenesis, syndactylia, micropenis and cryptorchidism.	false
+ea8c5c96a2110ae3a5661a57119b286b49f7a09b	The @DISEASE$ (DMD, BMD) show significant comorbid diagnosis for autism, and the genomic sequences encoding the proteins responsible for these diseases, the dystrophin and associated proteins, have been proposed as new candidate risk loci for @PHENOTYPICFEATURE$.	false
+7f2b12d5880b4a9da821bc3068a0ef022ec6e7f8	The @DISEASE$ (DMD, BMD) show significant comorbid diagnosis for @PHENOTYPICFEATURE$, and the genomic sequences encoding the proteins responsible for these diseases, the dystrophin and associated proteins, have been proposed as new candidate risk loci for autism.	false
+92384ec00e15e0e15730e1df79c34a72be246289	Although induced pluripotent stem cells, primary rodent neurons, and transfected @PHENOTYPICFEATURE$ cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1 To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete @DISEASE$ representative of Gaucher disease.	false
+711221ea1d7490ff4e0bd5391ac1914af371f513	Although induced pluripotent stem cells, primary rodent neurons, and transfected @PHENOTYPICFEATURE$ cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1 To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of @DISEASE$.	false
+20f49a0e353c9f6a38a0bf847a02e342760c09ef	Although induced pluripotent stem cells, primary rodent neurons, and transfected @PHENOTYPICFEATURE$ cell lines have been used to study the effect of @DISEASE$ on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1 To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease.	false
+04dc9bf7b32c24d52a95827920a8f488e27317a2	@PHENOTYPICFEATURE$ in type 1 @DISEASE$ in children.	false
+74e0c937f6b1a3e76366dceeddb96b7647481deb	A germline or de novo @PHENOTYPICFEATURE$ in two families with @DISEASE$: implications for recessive disorders.	false
+b2c67cf44acc2407d746cbfe4618fab45bc02ff5	C. L. S. have been observed in isolated patients with bony skeletal and @PHENOTYPICFEATURE$, in Westerhof's syndrome, Leschke's syndrome, Cowden's disease, nevoid basal cell carcinoma syndrome, epidermal nevus syndrome, @DISEASE$, Hunter's disease, Turner syndrome.	false
+a6637d7f84608b0aad30801f938aca8d92bee951	@PHENOTYPICFEATURE$ in type 1 @DISEASE$ are due to low-grade activation and can be partly restored by enzyme supplementation therapy.	false
+c8fcf26ee73b128169af35cc4582bca35927b9dd	@PHENOTYPICFEATURE$ in patients with @DISEASE$: effect of therapy.	false
+5cb20ae3469fad91475ca7e74cbc0fb4f8e3f4bf	Five cases were classified into this group [1 case of classic @DISEASE$, 1 case of @PHENOTYPICFEATURE$ (DCIS) and 3 cases of invasive carcinoma of no special type (NST)].	false
+c6f6f1228ad9bab7072eb778c6f04b0a37099e15	1293 genetic events were identified, involving potentially avoidable cases of Down's syndrome, @PHENOTYPICFEATURE$, cystic fibrosis, beta thalassaemia major and late onset @DISEASE$ (multiple endocrine neoplasia).	false
+b175b1c71be3fda20e321d5d8481f0977f2afa2f	[Left cervical mass, moon-shaped face, facial redness, skin pigmentation deposits and @PHENOTYPICFEATURE$: (@DISEASE$--Cushing's syndrome caused by ectopic ACTH)].	false
+36e32f53b2dd82ec9cea24b21dbc541139c0c45f	This 48-year-old-man who had undergone right thyroid lobectomy for @DISEASE$ nine years earlier developed @PHENOTYPICFEATURE$.	false
+15bec2e3f5becc0146dbc7851a188ecf844450d5	The condition was initially termed @DISEASE$ (@PHENOTYPICFEATURE$, alopecia, cutis laxa, and scoliosis), based on the clinical features of the first identified family; however, with the expansion of the clinical phenotype in additional families, it was subsequently coined RIN2 syndrome.	false
+5005437e21f87916b172a91ac460faf59f1037ee	RIN2 syndrome also known as @DISEASE$ is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: @PHENOTYPICFEATURE$, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis.	false
+985c93eb1ca4b705c63d753751accbe1a97ec7dc	In the present study, we report on an autosomal-recessive disorder that we have termed @DISEASE$ (@PHENOTYPICFEATURE$, alopecia, cutis laxa, and scoliosis).	false
+e5517243b95001d69595227d1ee3e76426411b56	@DISEASE$ (ARVD2, OMIM 600996) is an autosomal dominant @PHENOTYPICFEATURE$, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death.	false
+beb0516b2fa1cc55656f15717a49359197b660a4	[Disorder of histidine metabolism induced by anticonvulsant therapy during a @DISEASE$ @PHENOTYPICFEATURE$].	false
+26f57311d8da813e43e6664e8f47dcd22ef53b2a	[@DISEASE$ with @PHENOTYPICFEATURE$(author's transl)].	false
+ae92d2b709238d27c1c20fffce67a70c9dcf6e6a	Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of @DISEASE$ affecting both primary and permanent dentition and @PHENOTYPICFEATURE$.	false
+4acf1a1fdfad64146bd1ca02568ab6515fc39c0f	A female child, diagnosed with PLS-associated periodontitis at the age of 9 years and 11 months, presented with @PHENOTYPICFEATURE$, as well as generalized @DISEASE$.	false
+90eb7e533c607807f9731e0ca807941dfad46b4a	Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by @PHENOTYPICFEATURE$, @DISEASE$ with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis.	false
+dc1f96b24e73e2569476ff90e1bd410da2c560dc	The autosomal-recessive Papillon-Lef?vre syndrome (PLS) is characterized by severe @DISEASE$, combined with @PHENOTYPICFEATURE$, and is caused by mutations in the Cathepsin C (CTSC) gene.	false
+1a1e2d88f252aa5938fdb090f14e0ab72befaa61	A 4-year-old boy presented with @DISEASE$, recession, missing teeth, and @PHENOTYPICFEATURE$ of the palms of hands and soles.	false
+93c339af49b4fec20933b52d85b989ce92d119ca	Papillon-Lef?vre syndrome, a rare disease with autosomal recessive inheritance, is characterized by @DISEASE$ and @PHENOTYPICFEATURE$.	false
+61c390d43058c9f1092c3dbc573bb6e040b8bd03	A patient with @DISEASE$ developed severe progressive polymyoclonus and @PHENOTYPICFEATURE$.	false
+831ed3e1b026ae724b9f0df7273912d1f6b8bc55	Mutations in the TRAPP complex subunit 2 (TRAPPC2) cause X-linked @DISEASE$, while mutations in the TRAPP complex subunit 9 (TRAPPC9) cause postnatal mental retardation with @PHENOTYPICFEATURE$.	false
+7948d4ee3ccd5393c8092e790a614a56161b6d81	@DISEASE$ (NFTC) is an autosomal recessive disorder characterized by calcium deposition in skin and mucosae and associated with unremitting pain and life-threatening @PHENOTYPICFEATURE$.	false
+998330d455008ee2fe9a00bbad5003520eb09ed1	@DISEASE$ causing @PHENOTYPICFEATURE$ in a child is rare.	false
+3defbec9ec0896a1d4f6b968c0f7d0860b1c5d72	Therefore, in the absence of typical @DISEASE$ @PHENOTYPICFEATURE$, one can readily differentiate non-meningiomatous hyperostosis from true meningioma.	false
+a60b71ec2d0f1127fec22fc7915783b07b93dc0e	Therefore, in the absence of typical meningiomatous @PHENOTYPICFEATURE$, one can readily differentiate non-meningiomatous hyperostosis from true @DISEASE$.	false
+7d316a7e393315c9550766e03308c42eb8d9447c	Eccentricity, @PHENOTYPICFEATURE$, and bone destruction were useful signs of aneurysm, @DISEASE$, and metastasis, respectively.	false
+e3b97b510353bf7ca4f49cd6a3081f4d54b3a197	[Recurrent multiple @DISEASE$ and @PHENOTYPICFEATURE$].	false
+288db056519b8952e1905d8d5075094763fbb82f	It is important to note MRI changes specific to cystic @DISEASE$ and include meningiomas in the differential diagnosis of @PHENOTYPICFEATURE$.	false
+b6268806ffd0d9b51859a5ffd7417fbe40badcdd	@DISEASE$ causing @PHENOTYPICFEATURE$ of the cranial convexity in a child.	false
+c4f64ae5ea537e5ce2e3ae011aa96621d9f72e12	Massive deforming @DISEASE$ @PHENOTYPICFEATURE$; report of case long considered to be a cranial osteogenic sarcoma.	false
+1b26715238a5517ecc885950793b8a1ea48fe40a	A medieval example of @DISEASE$ @PHENOTYPICFEATURE$.	false
+b81b009d3a12c648819a0a3fc26bac0f2c913888	Extra-axial Hodgkin's lymphoma with bony @PHENOTYPICFEATURE$ mimicking @DISEASE$.	false
+4b5b2a9c2caf8b6dc580541f95ae1844fe410cae	A left perisylvian @DISEASE$ was successfully resected following investigation for @PHENOTYPICFEATURE$.	false
+78e282ed6db7351a3ed3187c5d9bdabe53f01d22	Sonographic evidence of ascites, pleura-pericardial effusion and gallbladder wall @PHENOTYPICFEATURE$ for @DISEASE$.	false
+8d2b1495307826def67b38e138ed22dc625014ea	There was no relationship between the clinical severity of @DISEASE$ (DF, DHF without shock and DSS) and the incidence of @PHENOTYPICFEATURE$.	false
+f22938b73dd3aeef8a896154aa38eb9efe5cdb34	To determine gallbladder @PHENOTYPICFEATURE$ with type of @DISEASE$ infection and hematocrit level.	false
+e1d3847509240550f27e54a9913e2eed0e87adc5	A retrospective study was performed on 225 cases of DHF admitted from January to December 1997 to determine the association between the type of @DISEASE$ infection, hemoconcentration and the presence or absence of gallbladder @PHENOTYPICFEATURE$.	false
+ce70f9bdedd3af0932049cf835ed42f386cc7d03	@DISEASE$ (PMP) results from perforated appendiceal @PHENOTYPICFEATURE$.	false
+e309f39c75efb04c4691ba671dafe9582d167870	@DISEASE$ is an appendiceal @PHENOTYPICFEATURE$ with distinct clinical and pathologic features.	false
+e397d65e09b697b954e157c34f853490365d5a57	@DISEASE$: An uncommon @PHENOTYPICFEATURE$.	false
+621a5ddb59d9db3bcd7c681df64f1f8f5e36b501	A core microbiome associated with the peritoneal @PHENOTYPICFEATURE$ of @DISEASE$.	false
+f8af7b425b182d4114a45101bfdc0dea8f1ed015	@DISEASE$ arising from a mucinous borderline ovarian @PHENOTYPICFEATURE$: Case report and literature review.	false
+00b2c08700e948a6b59cbc6662f4bfe773c962c8	@DISEASE$ is an uncommon @PHENOTYPICFEATURE$, usually arising from the appendix.	false
+5ee9e7cbbabbe8882ebd45304acc2de8a1a0c4da	@DISEASE$ (PMP) is a rare @PHENOTYPICFEATURE$ of appendiceal origin.	false
+f24ff2dc26518942774b07181f88d4d217807cf6	@DISEASE$: a rare tumour mimicking primary ovarian @PHENOTYPICFEATURE$.	false
+2d468040550ec9a65713cc68e00df41b3ab62749	@DISEASE$: a rare @PHENOTYPICFEATURE$ mimicking primary ovarian neoplasia.	false
+a7aba96485c6b02d138da3c4aeaaea74c0412733	@DISEASE$ syndrome: classification of appendiceal mucinous @PHENOTYPICFEATURE$.	false
+b27d4bc44bdf89116292cdee00ed7aa6b753171f	Elevated tumour markers are normalized in most patients with @DISEASE$ 7 days after complete @PHENOTYPICFEATURE$ removal.	false
+9a56b030b24dabb79aaf7e431566cef5b0ea0f4b	Elevated @PHENOTYPICFEATURE$ markers are normalized in most patients with @DISEASE$ 7 days after complete tumour removal.	false
+0cf60c740085dd91ce5aa50432514158b9064905	None of the affected family members had early-onset arthritis, @PHENOTYPICFEATURE$, abnormal clefting or facial features characteristic of classical @DISEASE$.	false
+85cd1a20679c59dbc6ec3a6a151d2a107a80fbde	@DISEASE$ is a group of inherited connective tissue disorders characterized by distinctive facial and ocular @PHENOTYPICFEATURE$ loss and early?onset arthritis.	false
+947f8541ec7f0c76936654bf7dcb9e739d436506	Valgus SCFE may be associated with @PHENOTYPICFEATURE$, coxa valga, hypopituitarism, and @DISEASE$.	false
+c53c3a458eb0d66d52703704e0e9260a5093f654	We report that maternal transmission of a GABRB3 signal peptide variant (P11S), previously implicated in @DISEASE$, is associated with @PHENOTYPICFEATURE$.	false
+bd8c5fbcf9ef6eb132e1df41a8ef81c97c29a661	A special form of transient @PHENOTYPICFEATURE$, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and @DISEASE$ (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect.	false
+1999ceec292a0402724f644f9f2d214a7424b1c0	@DISEASE$ associated with @PHENOTYPICFEATURE$: case report.	false
+40b19e2049bc258c780b6f9016d84a6833a663be	@DISEASE$ (CMD) is a bone dysplasia characterized by @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones.	false
+94f404cb31387a6a52acb7dc88a68da937947282	@DISEASE$ is a rare bone disorder of unknown etiology characterized by @PHENOTYPICFEATURE$ of the skull base or craniofacial bones and abnormal remodeling of the metaphyses of the long bones.	false
+57958a3edf301a0769e553b4ab5567b7f05573ab	Progressive facial disfigurement and @PHENOTYPICFEATURE$ in @DISEASE$.	false
+1b01b8ab8b9aa3bd9e2a1a2812f11c4969a15877	Dominant or recessive mutations in the progressive ankylosis gene ANKH have been linked to familial chondrocalcinosis (CCAL2), @DISEASE$ (CMD), mental retardation, @PHENOTYPICFEATURE$ and ankylosis syndrome (MRDA).	false
+27834d8c53178123fc60bc2c604e2610b7561efd	A case of @DISEASE$ associated with @PHENOTYPICFEATURE$ is reported, and possible causes are discussed.	false
+501c472233584643601d45797beec6779b743d95	@DISEASE$ is a rare bone disorder that may cause a variety of neurological abnormalities; @PHENOTYPICFEATURE$ has not been observed with this disorder, however.	false
+3898615670faa834d65191cb3ade55e1d7d57817	@DISEASE$ is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony @PHENOTYPICFEATURE$ of the facial and skull bones.	false
+94409181bae6b76c5eed39cdb97d611ff7780d01	The infants both had severe growth and developmental retardation, @PHENOTYPICFEATURE$, and Dandy-Walker anomaly; developed @DISEASE$; and one died at age 5 mo, the other at age 3 years.	false
+3476f417f6375a573f3e09dc3d4a74e178d34fd9	Lumbosacral @DISEASE$ as a component of immature teratoma associated with @PHENOTYPICFEATURE$--a rare case and short literature review.	false
+0c242d39a1007fa699f1af29c43ba9e0d2fecf76	@DISEASE$ screening in diffuse capillary malformation with overgrowth and @PHENOTYPICFEATURE$-capillary malformation: A retrospective study.	false
+8080303abe543cf1563e4bb720a643c24f437f4a	Clinical features of this patient include: dysmorphic features consistent with trisomy 21, tetralogy of Fallot, hemihypertrophy, swirled @PHENOTYPICFEATURE$, hepatoblastoma, and @DISEASE$.	false
+789071d99b74ee5e84f372c45890ff5c0cff41d5	A two year old female child with bilateral @DISEASE$ (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, @PHENOTYPICFEATURE$, mental retardation and ventricular septal defect has been described.	false
+e63e50077b99748eb5b62e39d491ae4407585446	We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, @PHENOTYPICFEATURE$, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral @DISEASE$.	false
+d3591373ebdba164c5d07d7f063273cbbb8cdea1	We have previously described mosaic mutations in the RNAse IIIb domain of DICER1 that display Global developmental delays, Lung cysts, somatic Overgrowth, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+ec6bfb59d279b9a2548b61fcb1ca71d0092d9ddb	This case represents the fourth reported case of lumbosacral @DISEASE$ as a component of immature teratoma associated with @PHENOTYPICFEATURE$.	false
+02cdc41e73bf17fdb1688481fd9787832f055c5e	To evaluate the frequency of @DISEASE$ in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and @PHENOTYPICFEATURE$-capillary malformation (M-CM).	false
+e3d22712b46606990e90f80abfff6b6a8ee2839d	Syndrome of @PHENOTYPICFEATURE$, Dandy-Walker malformation, and @DISEASE$ caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.	false
+f8a0e24f75c542340006f0368c64583814338a99	Risk factors include @DISEASE$, clinically significant @PHENOTYPICFEATURE$ or heart disease, electrolyte imbalance (especially hypokalaemia, hypomagnesaemia), impaired hepatic/renal function and concomitant treatment with other drugs with known potential for pharmacokinetic/ pharmacodynamic interactions (e.g.	false
+5b5a3fcbc06e9ea21ba75f7e2695855500f8945e	Patients with @DISEASE$, patients with heart disease, with hypokalemia or @PHENOTYPICFEATURE$, and women have an increased risk.	false
+68d9d986f447f431cb49ac7075c2fd2a08957616	Patients with @DISEASE$, patients with heart disease, with @PHENOTYPICFEATURE$ or hypomagnesemia, and women have an increased risk.	false
+e4fc430a58fb99d717946bc4527140a2b3d9c7db	Mutations in human KCNE1 cause @PHENOTYPICFEATURE$ and @DISEASE$, an inherited predisposition to potentially life-threatening cardiac arrhythmias.	false
+5f24bc0957948f110c47b82c292c6a320bcf7642	Safe anesthesia management protocol of a child with @DISEASE$ and @PHENOTYPICFEATURE$ (Jervell and lange-nielsen syndrome) for cochlear implant surgery.	false
+f6cf2a26b3b65ed6df31f0f14ae59bd16113100f	These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of @DISEASE$, and demonstrate that the R518X allele may be associated with or without @PHENOTYPICFEATURE$.	false
+1dd7504d7c1463573e461161e07581b7081de555	The etiological aspects implicated this unusual cardiac arrhythmia are: the @DISEASE$; bradycardia, either sinusal or due to atrioventricular block; ionic depletions: hypokalemia, @PHENOTYPICFEATURE$ and hypomagnesemia; treatment with antiarrhythmic class AI drugs (quinidine-like agents), tricyclic antidepressants, phenothiazines and erythromycin; organophosphate poisoning.	false
+654b1d3068be3a9a38b6411415400dbedbada8dd	The etiological aspects implicated this unusual cardiac arrhythmia are: the @DISEASE$; bradycardia, either sinusal or due to atrioventricular block; ionic depletions: hypokalemia, hypocalcemia and @PHENOTYPICFEATURE$; treatment with antiarrhythmic class AI drugs (quinidine-like agents), tricyclic antidepressants, phenothiazines and erythromycin; organophosphate poisoning.	false
+d7a4ede509705dd8fbacf0cc5a91cbf4768128d2	Most recently, @PHENOTYPICFEATURE$ have been hypothesised to play a role in some cases, particularly the primary genetic arrhythmogenic disorders such as @DISEASE$ (LQTS).	false
+476c387562e64aa673d393ab5eb79d5f4cd4edf8	The @DISEASE$ is a rare condition that may occur with or without @PHENOTYPICFEATURE$.	false
+00914dac51d1304a41fd7963db787941861e9e32	It was impossible in any of these cases (usually because of insufficient data) to completely exclude one or more alternative explanations for TdP, including @DISEASE$, hypokalemia, @PHENOTYPICFEATURE$, or drug-induced QT prolongation.	false
+acff244a73d737688495a4b85cab19e6dfed0f81	It was impossible in any of these cases (usually because of insufficient data) to completely exclude one or more alternative explanations for TdP, including @DISEASE$, @PHENOTYPICFEATURE$, hypomagnesemia, or drug-induced QT prolongation.	false
+69b94343892efc780d17662ad36937b87827d582	Risk factors include @DISEASE$, clinically significant @PHENOTYPICFEATURE$ or heart disease, electrolyte imbalance (especially hypokalaemia, hypomagnesaemia, hypocalcaemia), impaired hepatic/renal function, concomitant treatment with other drugs with known potential for pharmacokinetic/pharmacodynamic interactions (e.g.	false
+1b3893a4d7878b527bd9993556a42ec3bcb44fcb	Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo @PHENOTYPICFEATURE$ in @DISEASE$.	false
+47676e6f873046974c94fec3f086d1c7cbe9c4ce	@DISEASE$ shown by prenatal onset ventriculomegaly and @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+117e3da14f7ea09db6336d13233c7f5ba3c8514b	OBJECTIVEIt is well established that @DISEASE$ (CS) may be associated with @PHENOTYPICFEATURE$.	false
+2f08be70e950077bf76ac92014cb5789cba9bee6	Pelvic magnetic resonance imaging (MRI) earned a place among essential diagnostic methods in preoperative investigations after the @DISEASE$ and a high incidence of associated @PHENOTYPICFEATURE$ were described.	false
+a7c50706a3fb8241a6dca46c6a159414918b00aa	@DISEASE$ and @PHENOTYPICFEATURE$ due to a rare 7q36.2 microdeletion: a case report.	false
+f6db4ed0501ae7b48312ccaa400cbe08a469014d	@DISEASE$, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, mental retardation, and CNS structural anomalies: another observation.	false
+82a0846b91756f2a0fb5d28022bcb0c410babb32	Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+873443925d0a4105f857618c700cf53582eb78a1	@DISEASE$, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, mental retardation, and CNS structural anomalies.	false
+813bbf8f9c2f1100b2ecda2c2fca89d85acd1de6	@DISEASE$, macroblepharon, eyelid colobomas, @PHENOTYPICFEATURE$, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.	false
+d2088971ff138e6d5cc0230cd314ba5d783ce89e	Autosomal recessive deafness with @PHENOTYPICFEATURE$ and facial appearance of @DISEASE$.	false
+efef325ec3143b430acfc883f68fc1ed8d378b83	Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, @PHENOTYPICFEATURE$ congenita, @DISEASE$, to the mild forms--Stickler syndrome and early osteoarthritis.	false
+90cf8f1b46a758ee245d8142f8b14b847cb60b5e	@DISEASE$ is a rare autosomal dominant @PHENOTYPICFEATURE$.	false
+7c7cfdb15a3a2685a5c459283648b7f3fd25257d	@DISEASE$ is a rare, autosomal dominant @PHENOTYPICFEATURE$ that is phenotypically similar to the more common disorder Stickler syndrome.	false
+74fc8517e86547952ff7b2e3aaa60be94b1247a4	This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of @DISEASE$, deafness, and @PHENOTYPICFEATURE$.	false
+5ea0150401d808af01d47d6303d635fdf0b3e81a	Association of reduced glucose tolerance, @PHENOTYPICFEATURE$, hyperlipoproteinemia, hyperuricemia, macrocytic anemia and @DISEASE$, polyneuropathy have been described.	false
+d36ff194f488b964db85100d2a7d17dd5c8e386c	A four-year-old Caucasian male with well-documented @DISEASE$, first noted in early infancy, was found to have profound hearing loss causing @PHENOTYPICFEATURE$.	false
+07788dfcc7d0d55b59c86f48f2e926b33b9c9c56	Maternal and neonatal @PHENOTYPICFEATURE$ as a consequence of maternal @DISEASE$.	false
+59f826aa45ad5406d1db922051ec32bf3ced831b	In contrast, in patients with @PHENOTYPICFEATURE$ incomplete @DISEASE$ type I (RTA I) was diagnosed in 10 of 46 subjects (22%) by oral ammonium chloride loading test.	false
+f5eb9574a5f438c4b35cf7c948fa99d093bcd905	[Sj?gren's syndrome with partial @PHENOTYPICFEATURE$ and @DISEASE$].	false
+0f87b72d3ce3e16470aec3a7859dcdde336c84de	These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, @DISEASE$, and @PHENOTYPICFEATURE$ that are characteristic of Lowe syndrome.	false
+26ed5acdb3af02c5e925691688e81beb525d00a4	Endocrine function was normal, and none of the patients had @PHENOTYPICFEATURE$, hypercalcemia, @DISEASE$, or other secondary causes of hypercalciuria.	false
+491fd12d9a33c372f40b448603f72718ac913eba	A wide range of other multisystem features were variably seen, including dysmorphism, @PHENOTYPICFEATURE$, poor growth, gastrointestinal dysmotility, @DISEASE$, seizures, and episodic metabolic failure.	false
+9daa3556d5f4072c2e49acfd0313f243aae5ed71	Self-limited neonatal familial @PHENOTYPICFEATURE$ associated with hypercalciuria and @DISEASE$ in three siblings.	false
+023449e5a6641233a8a5799bf2a60dac67ad84d2	Juvenile Huntington's Disease (@DISEASE$) is an @PHENOTYPICFEATURE$ disorder that comprises both neurological and psychiatric symptoms.	false
+40d4d0840f4873931592564ad1263ab1b7f4dd78	The patients were divided into three categories: (a) 18 patients with uncomplicated hyperthyroidism (HT) (b) 19 with hyperthyroidism and @PHENOTYPICFEATURE$ (HT/CHF), and (c) 6 with hyperthyroidism and concomitant unrelated liver disease (HT/@DISEASE$).	false
+1596c54d8669f7f3e2cb922564766e8f395b9da8	Coexistence of @DISEASE$ and @PHENOTYPICFEATURE$: molecular resolution of a complex comorbidity.	false
+28f51af41e92e7ae7f217560ad902a46e37d4747	To detect LZ in these cells morphologically, I have done electron microscopic observations of the following skin diseases; sarcoidosis, lupus vulgaris, lupus miliaris disseminatus faciei (LMDF), tattoo granuloma, lichen nitidus, foreign body granuloma, granuloma annulare, xanthelasma, @PHENOTYPICFEATURE$ tuberosum, xanthoma planum, @DISEASE$, giant cell tumor of tendon sheath, dermatofibroma, malignant fibrous histiocytoma, dermatofibrosarcoma protuberans, granulation tissue of burn, hypertrophic scar, and histiocytosis X.	false
+5c1e9ad69bd7084500922489f9da755ff88b015e	We report an original case of bilateral @PHENOTYPICFEATURE$ associated with @DISEASE$ (JXG) in a 7-year-old child.	false
+9cdc9604ff4dbd4b78360fa1e3d4e5982b2af512	@DISEASE$, cervical carcinoma, and @PHENOTYPICFEATURE$ are associated with Epstein-Barr, human papilloma, and hepatitis B virus infections, respectively.	false
+0f9722d5eec41611970073f8d88791026abc5ea9	The upregulation or mutation of C-MYC has been observed in gastric, colon, breast, and @PHENOTYPICFEATURE$ and in @DISEASE$.	false
+e7d7a009d059eb2667a9eddb0689c9bbf965f065	@PHENOTYPICFEATURE$ as initial presentation of @DISEASE$ in HIV-negative child.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+6a30dabaef02539fe24da4b94e790899f2dc0753	Bibliographic searches were conducted to identify publications (1985-2009) concerned with 35 neurodevelopmental disorders: Developmental @PHENOTYPICFEATURE$, Developmental dyscalculia, Developmental coordination disorder, Speech sound disorder, Specific language impairment, Attention deficit hyperactivity disorder, Autistic spectrum disorder, Tourette syndrome, Intellectual disability, Angelman syndrome, Cerebral palsy, Cornelia de Lange syndrome, Cri du chat syndrome, Down syndrome, Duchenne muscular dystrophy, Fetal alcohol syndrome, Fragile X syndrome, Galactosaemia, Klinefelter syndrome, Lesch-Nyhan syndrome, Lowe syndrome, Marfan syndrome, Neurofibromatosis type 1, Noonan syndrome, @DISEASE$, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Trisomy 18, Tuberous sclerosis, Turner syndrome, Velocardiofacial syndrome, Williams syndrome, XXX and XYY.	false
+0e8c5feaef169a1688f2f5c6451bf7d762fcbe09	@PHENOTYPICFEATURE$ aggravated by levetiracetam in an adult patient with @DISEASE$.	false
+9f92340a559442adedc319d4e81dca35ad989e33	@DISEASE$ (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), @PHENOTYPICFEATURE$ (4) and tyrosinemia (2) were the most commonly diagnosed IEMs.	false
+d8585012b78da987a877fbf06f44a2dfebe39b28	Homeostasis impairment, e. g. hyponatremia, hypo- and @PHENOTYPICFEATURE$, hypocalcemia is mentioned, as well as vitamin deficiencies, such as pyridoxin deficiency, and the problem of @DISEASE$ is discussed in connection with aminoacid disorders.	false
+8dac66af42310e5de5d0fdaec96dc4ca6964e9c4	Autoantibodies directed against the aminoacyl tRNA synthetases are associated with @DISEASE$, arthritis, Raynaud's phenomenon, mechanic's hands, fever and interstitial @PHENOTYPICFEATURE$, clinically referred to as the anti-synthetase syndrome (ASS).	false
+9b74a045fdd86e8d7564603b6d972f781713286e	Chest pain, @PHENOTYPICFEATURE$, injury, acute respiratory infections, symptoms of digestive systems, headache, myalgia and @DISEASE$, noninfectious gastroenteritis and colitis, and symptoms of skin and other integumentary systems are common comorbid conditions for ED visits.	false
+816b970b218d570778f1deec7fdc0323cf4e6e86	The idiopathic inflammatory myopathies (IIMs, also known as @DISEASE$), are fundamentally @PHENOTYPICFEATURE$; many contributory immunological perturbations are involved in the pathogenesis of myositis, leading to varying clinical phenotypic presentations.	false
+43d2e6753fbd4f0ebe86ea7cf61507f464f63bee	The idiopathic inflammatory myopathies (IIMs, also known as myositis), are fundamentally @PHENOTYPICFEATURE$; many contributory immunological perturbations are involved in the pathogenesis of @DISEASE$, leading to varying clinical phenotypic presentations.	false
+831ebcc0436af179b9036fdf3e9326633417dd97	Anti-MDA5 dermatomyositis is characterized by a unique mucocutaneous and systemic phenotype that includes cutaneous and @PHENOTYPICFEATURE$, painful palmar papules, alopecia, panniculitis, arthritis, a lower incidence of @DISEASE$, and, importantly, an elevated risk of interstitial lung disease with a potentially fatal course.	false
+64c8810e2629c71af9b3557fa4a9a45d3919910f	The most common clinical manifestations of the disease were variable cutaneous lesions such as exfoliative dermatitis and skin ulcerations, chronic renal failure, peripheral @PHENOTYPICFEATURE$ or lymph node hypoplasia, masticatory muscle atrophy (i.e., chronic @DISEASE$), ocular lesions (i.e., conjunctivitis, keratoconjunctivitis sicca, blepharitis, and uveitis), and poor body condition.	false
+6cc4d93e98e4a9199951062f31a9d5368298bbe8	Conversely, rituximab failed to show an effect for antiphospholipid syndrome, autoimmune hepatitis, IgA nephropathy, inflammatory @DISEASE$, primary-progressive multiple sclerosis, @PHENOTYPICFEATURE$, and ulcerative colitis.	false
+f0c66af09ad3e7d866f585b1e0a52d6223e2d5b8	More severe histopathologic changes were seen in virus-infected juvenile rabbits than adult rabbits; these changes included viral myocarditis, interstitial @PHENOTYPICFEATURE$, and lymphocytic @DISEASE$.	false
+f9582ca2a39bb0e689c7eef3454cc61896ab3862	Clinical disease is typically exemplified as exfoliative and/@PHENOTYPICFEATURE$ dermatitis, with or without nasodigital hyperkeratosis and onychogryphosis, glomerulonephritis, atrophic @DISEASE$ of masticatory muscles, anterior uveitis, keratoconjunctivitis sicca, epistaxis, and/or polyarthritis, appearing alone or in various combinations.	false
+36da1727a4459da0f03f5c438e6c092505ac9150	Pathologic effects in mule deer consisted of hemorrhagic @DISEASE$ throughout skeletal muscles, severe verminous @PHENOTYPICFEATURE$, and moderate lymphadenitis.	false
+a1e1b50274d172dce0e9f0bb71b932e6079a3249	We used immunoprecipitation analysis to determine the frequency of autoantibodies to PMS1 in sera from patients with @DISEASE$, @PHENOTYPICFEATURE$, or scleroderma and from healthy controls.	false
+ba9db70245c74425fdcc3231dcc582c73c069c0d	The clinical diagnosis was based on the presence of hematological symptoms (severe anemia and @DISEASE$), pancreatic exocrine insufficiency and @PHENOTYPICFEATURE$.	false
+d074912acf4ea3d57e2b60583c41461e1b465b8c	@DISEASE$ and von Hippel-Lindau disease, Wilms tumor and aniridia, genitourinary malformation and @PHENOTYPICFEATURE$ (so-called, WAGR syndrome), and angiomyolipoma and tuberous sclerosis).	false
+2e156a646a91ccf1b24f898fb600c5cc2346f542	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, endometrial cancer, renal cell carcinoma, @DISEASE$, pancreatic cancer, and liver cancer.	false
+5f411342a138b8dadfd9f7b412d793c90a717dd6	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, endometrial cancer, @PHENOTYPICFEATURE$, @DISEASE$, pancreatic cancer, and liver cancer.	false
+5cfabe37450361a0802ae09621f67ef8e3a9646a	Megalencephalic leukoencephalopathy with subcortical cysts is a @DISEASE$ that is characterized by @PHENOTYPICFEATURE$ and a slowly progressive clinical course.	false
+bb17c41f5fafe395988ac4720d4fa224ca1ed745	Infantile Alexander disease (AD) is a @DISEASE$ characterized by its early onset within 2 years of life and clinically presents with @PHENOTYPICFEATURE$, seizures, and retarded psychomotor development.	false
+280cfe2a7424c602d31570000cb858575301d7dd	Mutations in the MLC1 gene, which encodes a protein expressed in brain astrocytes, are the leading cause of MLC, a @DISEASE$ characterized by @PHENOTYPICFEATURE$, brain edema, subcortical cysts, myelin and astrocyte vacuolation.	false
+ee20472e19630d27909c04da617c172c67cf0491	Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a @DISEASE$ characterized by @PHENOTYPICFEATURE$, subcortical fluid cysts and myelin vacuolation, has been linked to mutations in the MLC1 gene.	false
+9f55123899252d7d11f5fae1074e350c6d3c38d3	Megalencephalic leukoencephalopathy with subcortical cysts is a @DISEASE$ characterized by @PHENOTYPICFEATURE$ and a slowly progressive clinical course marked by spasticity and cognitive decline.	false
+597d1982cab2bc416bbc858a0de9e614763f5f61	@DISEASE$ is characterized by sudden and strong headache, accompanied by @PHENOTYPICFEATURE$, acuphenos and vertigo, triggered by abrupt movement of the head and can produce deep coma and death.	false
+4e9045b54b229c63a1744f769fdb9fe35841ee42	Here, we report a 38-year-old woman with relapsing attacks of headache, vertigo, nausea, @PHENOTYPICFEATURE$, and ataxia provoked by head rotation corresponding to the classical @DISEASE$.	false
+d6f05b4df07311d7854c96f40e53bca7c69d234a	@DISEASE$ is an unusual phenomenon, characterized by attacks of sudden and severe headache, @PHENOTYPICFEATURE$, and vertigo, triggered by abrupt movement of the head.	false
+9886887682d1438eba9aedc4cf80c7fd212f3ae7	The @DISEASE$ is an unusual phenomenon, characterized by attacks of sudden and severe headache, @PHENOTYPICFEATURE$ and vertigo, triggered by abrupt movement of the head.	false
+4e9045b54b229c63a1744f769fdb9fe35841ee42	Here, we report a 38-year-old woman with relapsing attacks of headache, vertigo, nausea, @PHENOTYPICFEATURE$, and ataxia provoked by head rotation corresponding to the classical @DISEASE$.	false
+9886887682d1438eba9aedc4cf80c7fd212f3ae7	The @DISEASE$ is an unusual phenomenon, characterized by attacks of sudden and severe headache, @PHENOTYPICFEATURE$ and vertigo, triggered by abrupt movement of the head.	false
+3ccd7a0310818d2632977807233786231160a99c	Mobile ventricular mass can produce episodic hydrocephalus on changing head posture with attacks of headache, @PHENOTYPICFEATURE$, and vertigo, triggered by abrupt movement of the head, a phenomenon called @DISEASE$ (BS).	false
+21cd7cf1c8fd17820cfde1fba3aa6f651e85821a	@DISEASE$ @PHENOTYPICFEATURE$ size was 7.9?cm.	false
+3948a54d0e662948a1c74d7015442e4f4ce17980	@DISEASE$ @PHENOTYPICFEATURE$ size was 7.1?cm (median:7.5,	false
+573cf4dabf971064d341a643d223ac15d02307de	@DISEASE$ @PHENOTYPICFEATURE$ viruses.	false
+9b8cf6eff9bb1e3918b5ad92c68f2a999c26244d	@DISEASE$ virus-induced @PHENOTYPICFEATURE$.	false
+114e250d54cdf60d6a81e2ebb45a76169bc38653	@DISEASE$ @PHENOTYPICFEATURE$ size was 10.9 ? 1.1 cm.	false
+b686163506d59540466decfd1615ca076d8c006a	@DISEASE$ @PHENOTYPICFEATURE$ size was 6cm x 7cm.	false
+5d2c6026e159ea9d9ad5db790cdbee89733cce06	@DISEASE$ @PHENOTYPICFEATURE$ and degeneration.	false
+bdfb8f48bfc1ce47e1611cad1cbcef7490cce29c	@DISEASE$ @PHENOTYPICFEATURE$ size was 2.6???0.9?cm.	false
+cd7fc986868e84a55a07c227df547a4b7af6142f	@DISEASE$ global @PHENOTYPICFEATURE$ status scores, pain scores, and functional disability scores were closely comparable in the 2 groups.	false
+d6751957d7089ad26a4a8be033ebc1d8e3984a1c	@DISEASE$ @PHENOTYPICFEATURE$ volumes before and after	false
+c0abdf1cfef709eb80214c349662290097273712	@PHENOTYPICFEATURE$ in an adolescent due to @DISEASE$.	false
+d4e21039c6447972d912f0ee8e22dcf7f2bda288	@DISEASE$ (SEDT) is an X-linked recessive disorder characterized by @PHENOTYPICFEATURE$ due to defective growth of the vertebral bodies.	false
+c61d1eb97130150eed87f5e4674531ea99f2303b	@DISEASE$ with progressive arthropathy is characterized by @PHENOTYPICFEATURE$ resulting from platyspondylia and progressive arthropathy.	false
+5c301415d94d15989427facc3251eb59e2219f15	@DISEASE$ (SEDT) is a rare genetic disease in which patient suffers from @PHENOTYPICFEATURE$, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy.	false
+82336016ffe905f0ccc22386ec355a50164d59c7	A girl with @PHENOTYPICFEATURE$ is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked @DISEASE$.	false
+a39635538737c6502904a20c02530d3ca7c2cbe7	Our findings suggest that mild @DISEASE$, low dietary folate, or both in the dams increase the incidence of fetal loss, intrauterine growth retardation, and @PHENOTYPICFEATURE$.	false
+015f5c329751ee26d6d284daa33779be979359b2	We report @DISEASE$ in a previously-healthy 34-year-old Filipino man, who presented with third and sixth cranial nerve palsies, headache, @PHENOTYPICFEATURE$ and left proptosis.	false
+71d21b99c0a30f5c6906e2c06cda049b45a08f9f	Of the former, 6% had coeliac disease, 21% had bacterial @PHENOTYPICFEATURE$, 3% had parasitic infections and 1 patient presented @DISEASE$.	false
+f5b0b5dbe1f61e3d8d45b2faa8ae04d787d05770	However, changes in the composition of the gut microbiota (dysbiosis) may be associated with several clinical conditions, including @PHENOTYPICFEATURE$ and metabolic diseases, autoimmune diseases and allergy, acute and chronic intestinal inflammation, irritable bowel syndrome (IBS), allergic gastroenteritis (e.g., @DISEASE$ and allergic IBS), and necrotizing enterocolitis.	false
+0e2aed5a7b2e65c0b8469b765c5a1259db227cd6	To investigate the function of the blood-brain-barrier (BBB) in acute encephalopathy following prolonged febrile seizures with neurological sequelae (AEPFS), the concentrations of serum matrix metalloproteinase-9 (MMP-9) and tissue inhibitors of metalloproteinases 1 (TIMP-1) were measured by ELISA in 10 children with AEPFS, 16 with prolonged @PHENOTYPICFEATURE$ without encephalopathy (PFS), 20 with simple febrile seizures (SFS), 23 with convulsive status epilepticus (CSE), and 18 with @DISEASE$.	false
+ac6a533a2978e7198785076215196c5ad27cb0f6	To investigate the function of the blood-brain-barrier (BBB) in acute encephalopathy following prolonged @PHENOTYPICFEATURE$ with neurological sequelae (AEPFS), the concentrations of serum matrix metalloproteinase-9 (MMP-9) and tissue inhibitors of metalloproteinases 1 (TIMP-1) were measured by ELISA in 10 children with AEPFS, 16 with prolonged febrile seizures without encephalopathy (PFS), 20 with simple febrile seizures (SFS), 23 with convulsive status epilepticus (CSE), and 18 with @DISEASE$.	false
+c44999718aa1191ccf4c1380fa410ee59293db04	Widely accepted syndromes in childhood include the @DISEASE$ and Lennox-Gastaut syndromes, several myoclonic syndromes, @PHENOTYPICFEATURE$ of infancy, absence epilepsy, benign partial epilepsy, and juvenile myoclonic epilepsy.	false
+8dd91ec977f7507cd09fa8f9d4aecb7a1afb91db	@PHENOTYPICFEATURE$ lesions, adenoma sebaceum, resistant epilepsy, intracardiac mass, renal angiomyolipomas, and @DISEASE$ were detected (n = 83, 96.5%; n = 47, 54.7%; n = 36, 41.9%; n = 27, 31.4%;	false
+00bde4083fdbfcb179cc21ed0dd9ecff69fb9bc4	After we discovered a PRRT2 mutation in a large family with ICCA containing one individual with @PHENOTYPICFEATURE$ (FS) and one individual with @DISEASE$, we analysed PRRT2 in a heterogeneous cohort of patients with different types of infantile epilepsy.	false
+4d71344da82b05477d27753f3d5bde1bc33b5494	Five patients were diagnosed with non-specific epileptic encephalopathy, two with epilepsy with myoclonic-atonic seizures, two with Lennox-Gastaut syndrome, two with @PHENOTYPICFEATURE$ plus, and one with @DISEASE$.	false
+e31f737f6b564783848e33552777383ee263aa1c	This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/@DISEASE$, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with @PHENOTYPICFEATURE$ plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures.	false
+e3eeec1c0d2b01d84327012e28733cfb2f83afa8	On clinico-biochemical grounds it could be suggested that @DISEASE$ would constitute a discrete group, based on the following parameters: predominance of females, a more advanced age, less marked peripheral signs of chronic hepatic failure (jaundice, spiders and palmar @PHENOTYPICFEATURE$) besides milder alterations of laboratory liver function tests.	false
+0a2b6d81cda39f778285247db128f445def6be6e	We report a case of @DISEASE$ with manifestations that included skin @PHENOTYPICFEATURE$ and severe peripheral nerve degeneration in a 56-year-old woman with a recent history of asthma.	false
+7a62c506fb259bc5f5479b73be31bcc0bc09fc0d	SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by @DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$, which is caused by biallelic mutations in the POC1A gene.	false
+06155d1c5c4ae5974b16d482e1793349ef0a62f1	History of cough, exercise intolerance, decreased appetite, breathlessness (difficulty breathing) and syncope with PE findings of heart murmur intensity louder than III/VI and absence of respiratory sinus @PHENOTYPICFEATURE$ were independently associated with outcome and allowed development of the @DISEASE$.	false
+0cfe663032599dd9d9d4d13eac8b44048b404e2e	Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (@DISEASE$, Facial dysmorphism, and @PHENOTYPICFEATURE$).	false
+5c38f03f4e6fd67645833de5bbb48c541ee6574d	Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembling @DISEASE$ (sparse hair, bitemporal narrowing, arched eyebrows, synophrys, high nasal root, bulbous nasal tip, marked clinodactyly with the hypoplastic terminal phalanges of the fifth fingers and cutaneous syndactyly of the toes, Blaschkoid linear @PHENOTYPICFEATURE$, dental anomalies and occasional major malformations).	false
+ea4b8a28d7778959503fcdccaa72c6a92211f21f	For MV, pairing of a 6?mm (mm) diameter ETT to accommodate the patient's vocal cord @PHENOTYPICFEATURE$, with a @DISEASE$ not designed to maintain a clean catheter tip, precipitated ETT blockage and respiratory acidosis.	false
+2d0d23af2f8d9c125b3ea46471f81690a506e3a6	POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with @DISEASE$, facial dysmorphism and @PHENOTYPICFEATURE$ (SOFT) syndrome.	false
+c5b3648359fff799362e706dc3f67b9acb4c4a3d	In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (@DISEASE$, facial dysmorphism, and @PHENOTYPICFEATURE$) syndrome.	false
+09413418de802ab3a2fe22dc7e80bd619a361eb9	It is characterized by prenatal @DISEASE$, facial dysmorphism, @PHENOTYPICFEATURE$, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age.	false
+2e320102fd77ced09b75297cf843205682fbf20e	Clinically, the patient presented with extreme obesity, @PHENOTYPICFEATURE$, hepatomegaly, hyperinsulinism and polycystic ovarian syndrome (PCOS), which have previously not been described in @DISEASE$ patients.	false
+4ae0fd9ba2e53b30d416ac207c9fd12ed55c9bc6	The clinical characteristics of a 16-year-old white girl with @DISEASE$ included early @PHENOTYPICFEATURE$, severe dysostosis multiplex, restricted joint motion, tight indurated skin, swollen eyelids, late-onset hepatosplenomegaly, umbilical hernia, corneal opacities, and only slightly impaired mental and neurological development.	false
+44f194990c06b08f0c84d3dae2caa5e3b0ca5d38	A classification of @PHENOTYPICFEATURE$ in oral-facial-digital (@DISEASE$) syndromes is offered to help differentiate between the various types of OFD syndromes.	false
+a9e6e938c8bed15a627988516e53b639d43c438f	A classification of @PHENOTYPICFEATURE$ in oral-facial-digital (OFD) syndromes is offered to help differentiate between the various types of @DISEASE$ syndromes.	false
+70b527e3c854c12fc2a3c29eff1755e20bc729f9	Similar to other inherited disorders associated to ciliary dysfunction @DISEASE$ type I patients display @PHENOTYPICFEATURE$.	false
+ef199bb96c0bb17aabeaf95368e6a1d0aead7da6	Blindness are cataract (34.8%), ocular trauma (27.7%), @DISEASE$ (22%), and @PHENOTYPICFEATURE$ (6.4%).	false
+9bf3eba502049faca491351fa3002c646d4b3c5f	To determine whether lifestyle-related risk factors, such as socioeconomic status, smoking, alcohol consumption, and @PHENOTYPICFEATURE$, are associated with @DISEASE$ (OAG).	false
+c22a9652fc8395dab3e0485af4557960715165bb	Therefore, management of BP and improvement of @PHENOTYPICFEATURE$ might be especially important to Japanese patients with @DISEASE$ or ocular hypertension as they have a higher incidence of normal-tension glaucoma than Europeans and Americans.	false
+af86c4faab3af57d64921522e030714c555cc38c	To determine whether an association exists between various components of metabolic syndrome (diabetes mellitus [DM], systemic arterial hypertension [HTN], hyperlipidemia, and @PHENOTYPICFEATURE$) and @DISEASE$ (OAG) in a large, diverse group of individuals throughout the United States.	false
+57fa25e9169044aeb726cfb94e36e9a8ee2adc43	Concentration gradients of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed in 762 successive CSF fractions (2 ml lumbar CSF) from 15 patients with the adult @PHENOTYPICFEATURE$ syndrome (@DISEASE$) and 11 patients with hydrocephalus of other causes (mixed group).	false
+3e275b20dc84cb5201884ee567e21c0d1de97f6a	Concentration gradients of homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA), and 3-methoxy-4-hydroxyphenylglycol (MHPG), were assessed in 762 successive CSF fractions (2 ml lumbar CSF) from 15 patients with the adult hydrocephalus syndrome (@DISEASE$) and 11 patients with @PHENOTYPICFEATURE$ of other causes (mixed group).	false
+782623c40a8ca007fb4a2066da279fd889a3ea56	Monoamine metabolites, cholinesterases and lactic acid in lumbar cerebrospinal fluid (CSF) were investigated on patients with the adult @PHENOTYPICFEATURE$ syndrome (idiopathic normal pressure syndrome; @DISEASE$, n = 15), Alzheimer's disease (AD, n = 14), multi-infarct dementia (MID, n = 13) and controls (n = 21).	false
+d3acd73856ec3446dd6b04be6aa16fde8732efac	Many studies have demonstrated gaps in adherence to American College of Cardiology (ACC)/American Heart Association (@DISEASE$) guidelines among patients with acute decompensated @PHENOTYPICFEATURE$ (ADHF).	false
+56aa961e7f2bcefb6a9171a62afb3d68c3104e18	Complement-mediated hemolytic uremic syndrome (otherwise known as @DISEASE$) is a rare disorder of uncontrolled complement activation that may be associated with @PHENOTYPICFEATURE$.	false
+71773609aed6e84c5ec54e8fb9b087b12330d701	Alternative high school (@DISEASE$) students have low levels of physical activity (PA) and high rates of overweight/@PHENOTYPICFEATURE$.	false
+2b07fb5e7484011ff099ec6b90cb1218b0031c57	Body mass index (BMI) and the apnea/hypopnea index (@DISEASE$) were determined for categorization of @PHENOTYPICFEATURE$ and sleep apnea status.	false
+10e04f99d5295d1bb4f1d33eaafb978e472c1a35	We studied 533 consecutive OSA patients, mean age 55.6 +/- 10.3 years (range 24-81), with @PHENOTYPICFEATURE$ (BMI 34.4 +/- 6.6 kg/m(2)) and severe OSA (@DISEASE$/RDI 37.8 +/- 21.8).	false
+8b6ba24c3b2dd0643139efb4897fed9a4893f204	Current heart failure therapeutic guidelines are based on a new classification of the progression of the syndrome of @PHENOTYPICFEATURE$ (CHF) that was proposed by ad hoc committees of the American College of Cardiology (ACC) and the American Heart Association (@DISEASE$).	false
+651f3ff7d163c050186493ed16ee421fa5853172	Patients with lesions in small vessels were older and presented more frequently with female gender, diabetes mellitus, @PHENOTYPICFEATURE$, peripheral vascular, multivessel coronary disease and American Heart Association/American College of Cardiology (@DISEASE$/ACC) lesion type C (p < or = 0.01, each).	false
+7361b42de21cf80d2594855c955e8f7971824733	Plasma log MRP8/14 levels showed apnoea/hypopnoea index (@DISEASE$) dose-dependent increases regardless of @PHENOTYPICFEATURE$.	false
+338e6ce95a34131f5fb3636c951adb93b5e07577	Autosomal dominant syndrome of mental retardation, hypotelorism, and @PHENOTYPICFEATURE$ resembling @DISEASE$.	false
+133d57707b44cc716e29f5cba3eb25a96910d9b6	We describe a father-son Mexican pair with typical features of @DISEASE$ (SRS): ocular hypotelorism, @PHENOTYPICFEATURE$, hypospadias (only in the child), and microcephaly.	false
+efd9d5365cde6ff8ffea1911447ce37ecd4c38bf	@DISEASE$ (SRS, OMIM%164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, @PHENOTYPICFEATURE$, dysmorphic face, hypospadia in males and mild mental retardation in some patients.	false
+2c64275e9d4864e1e6927cd842e8181ad2cc9ac4	@DISEASE$ syndrome (CRS) is a rare congenital @PHENOTYPICFEATURE$, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome.	false
+ba2594acecfa9a92fcddf489d03d8c826f98172f	@DISEASE$ syndrome with diastematomyelia, multiple @PHENOTYPICFEATURE$, and rotoscoliosis in an adult.	false
+c3a3c3a02a350f8e09f363d7e7c8b16f056cb67a	In children with cancer @DISEASE$ can be recognized particularly if there are multiple primary malignancies and @PHENOTYPICFEATURE$ and hypopigmentations.	false
+d875c15bbf371efde4b367fe65c2eb92294e8719	Coffin-Lowry syndrome (@DISEASE$; MIM 303600) in an uncommon X-linked disorder causing mental retardation and @PHENOTYPICFEATURE$.	false
+36f72d6100b649f6976f1e168f6a233e145e494f	@DISEASE$ (CLS; MIM 303600) in an uncommon X-linked disorder causing mental retardation and @PHENOTYPICFEATURE$.	false
+01e44dae3aadf2971ca88d38a486e84a11f5b057	@DISEASE$ (CLS) is an X-linked disorder associated with mental retardation, distinctive facies and hands, hypotonia, and @PHENOTYPICFEATURE$.	false
+b1da9ceb70874295bde3473ea11ba3a80b013dcb	Coffin-Lowry syndrome (@DISEASE$) is an X-linked disorder associated with mental retardation, distinctive facies and hands, hypotonia, and @PHENOTYPICFEATURE$.	false
+33edd8b8a9a18f12d283116eca7f722813f17545	The distal @PHENOTYPICFEATURE$ seen in our patient resemble other reported @DISEASE$ patients.	false
+028dfe6775fdcb36fb778493b54dfdec08f61cf9	However, the cellular and molecular bases of the @PHENOTYPICFEATURE$ associated with @DISEASE$ remain unknown.	false
+4516c71abf46e4ddd106caecf2c9ceb2dc967d5d	The @DISEASE$ is an established syndrome of mental retardation, a characteristic facies and @PHENOTYPICFEATURE$.	false
+5c04b2927a27304e1644cbafac7ed5a1f4fea8b2	This paper discusses a family presenting with features of @DISEASE$, namely abnormal facies, @PHENOTYPICFEATURE$ and mental handicap.	false
+f44791d565baf2485b5aed77a8b646aa6683d1b3	Coffin-Lowry Syndrome (@DISEASE$) is an X-linked syndromic form of mental retardation associated with @PHENOTYPICFEATURE$.	false
+581077c6d126cb941c8cb674eef37ff0a4b0bc90	@DISEASE$ (CLS) is an X-linked syndromic form of mental retardation associated with @PHENOTYPICFEATURE$.	false
+0c7b77ca7b2c34eea3f34e8bfecf30ed7749df53	Coffin-Lowry syndrome (@DISEASE$) is a syndromal form of X linked mental retardation, in which some associated facial, hand, and @PHENOTYPICFEATURE$ are diagnostic features.	false
+08b3e6a42381a03774af49f52c7f40dcf3e4d3c5	@DISEASE$ (CLS) is a syndromal form of X linked mental retardation, in which some associated facial, hand, and @PHENOTYPICFEATURE$ are diagnostic features.	false
+cb50e699e00eed8db0909d8aba855f5faba7652f	Coffin-Lowry Syndrome (@DISEASE$) is an X-linked mental retardation condition associated with @PHENOTYPICFEATURE$.	false
+662039d4b7973c2f3d5a9c856852875aa8f447f0	@DISEASE$ (CLS) is an X-linked mental retardation condition associated with @PHENOTYPICFEATURE$.	false
+c8da0e7975d9d2802fb75b6ee6c656195c6e1156	Coffin-Lowry syndrome (@DISEASE$) is characterized by cognitive impairment, characteristic facial and digital findings and @PHENOTYPICFEATURE$.	false
+4580afbcb008d4b267d32047cdd86093a9b03ee3	@DISEASE$ (CLS) is characterized by cognitive impairment, characteristic facial and digital findings and @PHENOTYPICFEATURE$.	false
+b9aa1ad0314fb5318dcdc217b8ce604217f1d9f6	We report a rare case of @DISEASE$ with massive @PHENOTYPICFEATURE$.	false
+68d2a52c33444980581ca15915458581e318060b	A number of individuals with @DISEASE$ also have thyroid abnormalities and @PHENOTYPICFEATURE$.	false
+ba2545fa2a80298472a31719b6b72463d9e60521	@DISEASE$ associated with epilepsy, mental retardation and @PHENOTYPICFEATURE$.	false
+1d2622d49c8c5807be9b4bd02d55b04eedf5bd3b	@DISEASE$; its relation to mental and @PHENOTYPICFEATURE$.	false
+3c630a87ba26c5cfae6e1249f24b8454f79659f0	@DISEASE$ - or familial spastic paraplegia (FSP) - is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, @PHENOTYPICFEATURE$, and ataxia in the more severe cases.	false
+d961d4a1014679af2accf5e42846bd6e2e7d2d56	Strumpell-Lorrain disease - or @DISEASE$ (FSP) - is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, @PHENOTYPICFEATURE$, and ataxia in the more severe cases.	false
+1b1932c1bb6a42e0f63eddcd0e67359b2a4193d2	Strumpell-Lorrain disease--or @DISEASE$ (FSP)--is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, @PHENOTYPICFEATURE$, and ataxia in the more severe cases.	false
+047f03b095398273a5132d893e1d8104c3610108	@DISEASE$--or familial spastic paraplegia (FSP)--is a rare hereditary neurological disorder, mainly characterized by variable degrees of stiffness and weakening of the muscles, with cognitive impairment, @PHENOTYPICFEATURE$, and ataxia in the more severe cases.	false
+6634705e63eb919f3b8a837bd1ea210177aff954	The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+36892d22b2934879082464c2aaa9dd08f5472972	Dysfunction of AP complexes has been implicated in a variety of inherited disorders, including: MEDNIK (mental retardation, enteropathy, @PHENOTYPICFEATURE$, peripheral neuropathy, ichthyosis and keratodermia) syndrome, Fried syndrome, HPS (Hermansky-Pudlak syndrome) and HSP (@DISEASE$).	false
+7a03029f07a13b22b23b13566cb0aa4ece716370	2 and other genes, @PHENOTYPICFEATURE$, @DISEASE$, extracorporeal membrane oxygenation, and auditory neuropathy et al were more commonly reported risk factors.	false
+06f42ed6d83ed287948b8a9ddc84b38b449d00df	Compared with investigations in other countries, this Finnish series differs in the incidence of familial cases and @DISEASE$, and especially in the higher incidence of neonatal @PHENOTYPICFEATURE$ and the lower incidence of tuberous sclerosis.	false
+6448ae5646655fbb48631b368d5e87ba59ebeaf4	Investigation of the role of @DISEASE$ in the etiology of @PHENOTYPICFEATURE$.	false
+bf7e7f5f0f53ab24a62b3762a8d92f02a9219179	We report two new cases of @DISEASE$ which emphasize the less well-known non-dermatological complications, namely: hypodontia, soft tissue contractures, @PHENOTYPICFEATURE$, hypogonadism, anaemia and osteogenic sarcoma.	false
+aea86c71c4c92ca79e493fdd260b24c86ac0d74a	@DISEASE$ (RTS) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies.	false
+94376fd08c4124d10901f8cde4981cc23eb9a8c2	Rothmund-Thomson syndrome (@DISEASE$) is a rare genodermatosis with characteristic skin changes such as atrophy, @PHENOTYPICFEATURE$ and telengiectasias, skeletal abnormalities, short stature, juvenile cataract and predisposition to skin and bone malignancies.	false
+1d2044d95490e4126c8d99b60f37c9cba9a7e056	) gene have been implicated in the development of @DISEASE$ (BRPS) characterised by severe developmental delay, feeding problems, @PHENOTYPICFEATURE$ and characteristic facial features.	false
+b04dadf5e962819c3ce3b95bc841ee99905ab87f	@DISEASE$ (BRPS) is a recently identified severe disorder characterized by failure to thrive, @PHENOTYPICFEATURE$, and severe developmental delay, caused by de novo dominant loss of function mutation in the ASXL3 gene.	false
+ae2ef27556d5dc60c556cfa091e1592cedf6825c	@DISEASE$ (BRPS) is characterized by severe developmental delay, feeding problems, @PHENOTYPICFEATURE$, characteristic facal appearance including arched eyebrows and anteverted nares, and ulnar deviation of the hands.	false
+5c5ba9be913404951326b492135e89f13b56880d	@DISEASE$ (USH) is a clinically heterogeneous condition characterized by sensorineural hearing loss, progressive @PHENOTYPICFEATURE$, and vestibular dysfunction.	false
+b75d3f5f5b9080cec3ccec5b2eae1662b5ad0e2e	We report a case of a 14-year-old Romanian male, with a family history of Waardenburg syndrome (mother) and @DISEASE$ (father - congenitally sensorineural hearing loss and @PHENOTYPICFEATURE$).	false
+af26dcd5b128244f87c4e3ea1fd5fb35f3ab418e	@DISEASE$ is characterized by profound hearing loss and @PHENOTYPICFEATURE$.	false
+1a9eb9fd8d230e3ba7ebf5b73d7bf37a2f075c94	The study was undertaken to procure population-based prevalence data on the various types of @DISEASE$ and other @PHENOTYPICFEATURE$-hearing impairment associations.	false
+b1d11c08ec2ed593416a462cd688aae00cd8792c	ARRP could be associated with extraocular manifestations that define specific syndromes such as @DISEASE$ (USH) characterized by @PHENOTYPICFEATURE$ and congenital hearing loss (HL).	false
+9ba4f63b8b3c619bdab136a9e3dd41870fa8235a	Q-PCR analyses showed J cybrids had decreased expressions for CFH, C3, and EFEMP1 genes, high risk genes for AMD, and higher expression for MYO7A, a gene associated with @PHENOTYPICFEATURE$ in @DISEASE$ type IB syndrome.	false
+1e529eef1841dd4e039e73fc3c8bb304f11a61ae	The prevalence of @DISEASE$ and other @PHENOTYPICFEATURE$-hearing impairment associations.	false
+2bd7eff9eec3f8e8b4259584f86bd07c48635429	@DISEASE$: Hearing loss, @PHENOTYPICFEATURE$ and associated abnormalities.	false
+8691e637d0667167beb8f1a52bbda051e4ea5cce	As with @DISEASE$ observed in humans, the two main phenotypes of the tubby mouse are progressive hearing loss and @PHENOTYPICFEATURE$.	false
+2fcad718fc0249c38826132bd4e49c508372ce8b	The @DISEASE$ is a recessively inherited disorder characterized by the associated deficits of sensorineural hearing impairment and a progressive @PHENOTYPICFEATURE$ called retinitis pigmentosa.	false
+e3a657d2bda21d05f6dce16428d6bac669c29179	@PHENOTYPICFEATURE$ in E200K familial and @DISEASE$.	false
+3004f4ce3ada2f3014e35500ffcd9a319b168ff7	We report a patient with sCJD referred to the NCJDRSU, who presented with isolated @PHENOTYPICFEATURE$ and subsequently identified all cases of @DISEASE$ on the NCJDRSU database (covering the years 1990-2012) with an isolated language impairment presentation.	false
+962c86acb26f368e69b6964ee0632d0152c223f1	@DISEASE$ (CJD) is the most common form of subacute spongiform @PHENOTYPICFEATURE$.	false
+b638cd596c3bfe3496074a3ef3de0780989806b9	We compared transmission characteristics for prions from L-type bovine spongiform @PHENOTYPICFEATURE$ and MM2-cortical @DISEASE$ in the Syrian golden hamster and an ovine prion protein-transgenic mouse line and isolated distinct prion strains.	false
+84f4d846ab5f207cfa34ed172c977596b71b33c9	To characterize the frequency of @PHENOTYPICFEATURE$ in E200K familial and @DISEASE$, to describe its semiology, EEG and MRI findings.	false
+a1bfb8ded5fda85be458cc07a2a49dcd0dc49cf4	have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with @PHENOTYPICFEATURE$ (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset @DISEASE$ (POAG).	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+13ced7e776a9fd03b65e106995b1372071260e05	Refsum's disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, @DISEASE$, deafness, @PHENOTYPICFEATURE$, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues.	false
+1077df4d74a53ee7fb41e79633d2c9d0c09cb9c2	Refsum's disease (hereditary motor @PHENOTYPICFEATURE$ type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, @DISEASE$, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues.	false
+8278bf8a41ab363395937e01bb4af67b2e41fe41	These include autonomic dysfunction, pain, hyposmia or @DISEASE$, excessive daytime sleepiness, rapid eye movement (REM) sleep @PHENOTYPICFEATURE$, depression, anxiety, cognitive decline, and dementia.	false
+6189d107f4a0c4fbf0495ff52c450a2e753a2a4c	Report of a family with @DISEASE$ and a case of hypogonadotrophic @PHENOTYPICFEATURE$.	false
+0ba51184dfb9cf7dfef4860a3213ec5f13ec9237	Refsum disease (RD), a neurological syndrome characterized by adult onset retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$, and phytanic acidaemia, is caused by elevated levels of phytanic acid.	false
+a47891cf01198936fbf87e5cc057417826859072	The clinical features associated with cilia dysfunction can include such phenotypes as polycystic kidneys, @PHENOTYPICFEATURE$, blindness, @DISEASE$, and obesity.	false
+06187fd54495b80b164d2d827479e585f2156a60	Within the @PHENOTYPICFEATURE$ cases, the negative predictive value (92%) and specificity (78%) of @DISEASE$ were both good; sensitivity for detecting LBV was 65%, but the positive predictive value (PPV) was only 35%.	false
+ef3dc2dbbe55efcbdd31fc91c254cdee90c18295	Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic @PHENOTYPICFEATURE$ and @DISEASE$.	false
+458c7e5e030989c21e36c3223f355a3b2280e334	Refsum's disease is a neurological syndrome characterized by adult-onset retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$ and phytanic acidaemia.	false
+8a5b06dc647f5102b1c9f8657c2ee07fe39878a6	Refsum disease is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, @DISEASE$, @PHENOTYPICFEATURE$, ataxia, and an accumulation of phytanic acid in plasma and tissues.	false
+952f597dd51ee0f563022a7c12dd3f50b8e0133e	Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with @DISEASE$ or @PHENOTYPICFEATURE$.	false
+d11fc22a5b46cff8a25bd5097ce838727303e36e	We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, @DISEASE$, and inguinal hernias and oculocutaneous @PHENOTYPICFEATURE$ (OCA) manifesting by white hair and skin that does not tan, nystagmus, reduced iris pigment with iris translucency, and reduced retinal pigment).	false
+3fdaf402257e4120c062f31b7de611cdd04b4098	We report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with @PHENOTYPICFEATURE$ (3/3), cleft palate or @DISEASE$ (3/3), and lack of high myopia (3/3).	false
+921a614f980f2a21ad14454a657bc93fc3afdba3	We conclude that a subset of sporadic colorectal carcinomas has unique biological features that may indicate inherited germline mutation, de novo germline @PHENOTYPICFEATURE$, or somatic mutations of the mismatch repair genes involved in @DISEASE$.	false
+310ef69c346c4dcf0cb90cec7fd762682a587b7c	The predictive value of MLH1 or MSH2 protein expression for the presence of truncating germline mutations was examined in benign and (pre)malignant endometrial samples from 3 patient groups: (I) 10 endometrial cancer patients from hereditary non-polyposis colorectal cancer (HNPCC) families with (n = 6) or without (n = 4) a known germline @PHENOTYPICFEATURE$; (II) 15 women from HNPCC families with (n = 7) or without (n = 8) a known germline mutation, who underwent endometrial sampling for non-malignant reasons; (III) 38 endometrial cancer patients <50 years of age, without @DISEASE$ family history.	false
+e9f7cb34482f9c0beb21d421ece0a41a2c4d546e	The predictive value of MLH1 or MSH2 protein expression for the presence of truncating germline mutations was examined in benign and (pre)malignant endometrial samples from 3 patient groups: (I) 10 endometrial cancer patients from hereditary non-polyposis colorectal cancer (HNPCC) families with (n = 6) or without (n = 4) a known germline @PHENOTYPICFEATURE$; (II) 15 women from @DISEASE$ families with (n = 7) or without (n = 8) a known germline mutation, who underwent endometrial sampling for non-malignant reasons; (III) 38 endometrial cancer patients <50 years of age, without HNPCC family history.	false
+085267657ed339b2cb674adadc22623263d4da2a	The predictive value of MLH1 or MSH2 protein expression for the presence of truncating germline mutations was examined in benign and (pre)malignant endometrial samples from 3 patient groups: (I) 10 endometrial cancer patients from hereditary non-polyposis colorectal cancer (@DISEASE$) families with (n = 6) or without (n = 4) a known germline @PHENOTYPICFEATURE$; (II) 15 women from HNPCC families with (n = 7) or without (n = 8) a known germline mutation, who underwent endometrial sampling for non-malignant reasons; (III) 38 endometrial cancer patients <50 years of age, without HNPCC family history.	false
+f9b33f841a4d1a100b53e79495e81011ee53b635	@PHENOTYPICFEATURE$ in a new family with @DISEASE$.	false
+b08932172fae57b22acfc2574956a36cc2890a37	Presumptive etiological diagnosis of androgen sensitivity syndrome/ 5-alpha reductase deficiency, testicular biosynthetic defect/ @DISEASE$, partial gonadal dysgenesis, ovotesticular DSD, XX testicular DSD, mixed gonadal dysgenesis, testicular vanishing syndrome, klinefelter syndrome, @PHENOTYPICFEATURE$, isolated hypospadias and isolated micropenis was made.	false
+4c2f1c0990ff03ae6c7b0652896b2ca30c5f08d8	The VACTERL-@DISEASE$ is a rare combination of @PHENOTYPICFEATURE$, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus.	false
+1e72b17238207c90e4cccca8df603811f605bce0	Two patients had @PHENOTYPICFEATURE$, one with XLA had evidence of end-stage encephalitis and the other with @DISEASE$ had a multi-focal leucoencephalopathy.	false
+1e1e46798a501456ec1338a60ffe567c8db72ab6	Erythroderma in Omenn syndrome may be caused by either mutations in genes associated with severe combined immunodeficiency (SCID) in which the generation of some T cells is possible, which results in potentially autoreactive lymphoid clones, or by selective proliferation of revertant CD8 T cells in the skin due to clonal expansion in response to infections or autoantigens.The newborn eczematous eruption, which occurs mainly in the signal-transducer-and-activator-of-transcription-3 (STAT3) variant, helps to differentiate STAT3 from Dedicator of Cytokinesis 8-related Hyper-IgE-syndrome (HIES).Impaired T helper 17 cell (TH17) immunity [HIES and defects of autoimmune regulator element (AIRE), STAT-1, and interleukin17 receptor(IL17(R))] may give rise to localized chronic mucocutaneous candidiasis, whereas a defective innate immune system predisposes to systemic candidiasis [congenital neutropenia, neutrophil dysfunction, and caspase recruitment domain 9 (CARD9) deficiency].Noninfectious granulomas may be the presenting symptom in innate immunity defects [such as chronic granulomatous disease (CGD) or in predominantly humoral immunodeficiencies such as @DISEASE$], as well as @PHENOTYPICFEATURE$ teleangiectasia or rare recombination-activating gene-deficient cases.	false
+52bd8dba2a177df793b57ff0659729caf4d03743	A 8 year old boy with short stature, low height velocity, @PHENOTYPICFEATURE$, cutaneous abnormalities, @DISEASE$ and increased chromosomal instability is described.	false
+9479b2c9d55bf289289cc9757c38dc9ba4986986	These entities include @DISEASE$, hypercalcemia, @PHENOTYPICFEATURE$, polycythemia, hypertension, and inappropriate ADH or HCG production.	false
+d7ad21a5a88ff2c4f03a32b0be309a7d3ffafce7	These entities include @DISEASE$, @PHENOTYPICFEATURE$, hyperglycemia, polycythemia, hypertension, and inappropriate ADH or HCG production.	false
+c13a0b83767c3e16f6ad139e1b473f823b490bdc	We studied 5 boys, 2 to 10 years old, with marked or complete deficiency of hypoxanthine-guanine phosphoribosyltransferase and @DISEASE$ with varying degrees of mental retardation, dysarthria, chorea, dystonia, spasticity, and @PHENOTYPICFEATURE$.	false
+b01a8bb9ff2eb0c67b7e307621952dd123f2563b	Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to @DISEASE$, which is characterized by hyperuricemia, severe motor @PHENOTYPICFEATURE$, and self-injurious behavior, or HPRT-related gout (Kelley-Seegmiller syndrome).	false
+0b827012bec036226e4baf9476a3fcbb6d4372f0	A patient with @DISEASE$ has had 3 recurrent episodes of @PHENOTYPICFEATURE$, each associated with an acute illness.	false
+f6a42984eaf56910d6e59b5b123ea2a6caa94d51	Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to @DISEASE$, which is characterized by hyperuricemia, severe motor @PHENOTYPICFEATURE$, and self-injurious behavior, or HPRT-related gout with hyperuricemia.	false
+92b64f7819462ac4b7c9d42ac60188b4241f3182	Twelve other cases in CP and 9 reference cases showed some abnormal sleep EEG patterns as follows: (i) in CP cases absence of EEG patterns characteristic of wakefulness, NREM sleep and REM sleep without spindles (n = 3); porencephaly with microcephaly (n = 1) and cytomegalovirus infection (n = 2), no characteristic EEG patterns of stages 1-4 without spindles (n = 2); cardiac arrest (n = 1) and @PHENOTYPICFEATURE$ with lissencephaly (n = 1), absence of REM sleep (n = 1); kernicterus, spindles with an extremely low incidence (n = 5); perinatal anoxia (n = 2), kernicterus (n = 1), @DISEASE$ (n = 1) and cerebral palsy due to unknown etiologies (n = 1), and extreme spindles (n = 1); cerebral palsy due to unknown etiologies, (ii) in reference cases no spindles (n = 2), spindles with an extremely low incidence (n = 6), and extreme spindles (n = 1).	false
+7f9abd9729e108d2ca3e9a83672c139ddf463d27	Protein patterns of cultured fibroblast and hair root lysates from healthy controls and patients with genetic diseases (Duchenne muscular dystrophy, Friedreich's @PHENOTYPICFEATURE$, Marie's ataxia, @DISEASE$, maple syrup urine disease, and trisomy 13, 18 and 21) were obtained with two-dimensional electrophoresis.	false
+41ea8c68bc041ba671650ec0d1a960b4d94bb3fb	Protein patterns of cultured fibroblast and hair root lysates from healthy controls and patients with genetic diseases (Duchenne muscular dystrophy, Friedreich's ataxia, Marie's @PHENOTYPICFEATURE$, @DISEASE$, maple syrup urine disease, and trisomy 13, 18 and 21) were obtained with two-dimensional electrophoresis.	false
+dd0c077072b5a5bfcf2ad674feabcf87006e8b06	There were 8 primary malignant tumors: 3 chordomas, 3 osteosarcomas, 1 chondrosarcoma, 1 primary @PHENOTYPICFEATURE$ and 1 metastatic @DISEASE$.	false
+b49033ca82aa8bef4e9e0ac2275de0a4877ac974	In this study we describe a 15-year-old boy with @DISEASE$, atrial septal defect (ASD), atrioventricular (AV) conduction defect, and @PHENOTYPICFEATURE$.	false
+082509d8884b9e8ffc95a6df466b2f5c4f493805	During the ensuing months, @DISEASE$ was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes of @PHENOTYPICFEATURE$ and breath-holding spells.	false
+8692a2aa669cdc1076cb031d37a4ae525ca0f23e	In contrast to patients with @DISEASE$, the three patients had universal loss of pain sensation, profound hypotonia, and @PHENOTYPICFEATURE$.	false
+bf72723951e63960f7d2cb8283d548eb7df9155c	@DISEASE$ is a rare condition characterized by multiple congenital anomalies including pulmonary artery and lung hypoplasia, agonadism, diaphragmatic abnormalities, cardiac defects, omphalocele, and various @PHENOTYPICFEATURE$.	false
+bb59779e1cfe5b13a33245fd80c818f2becc3763	@DISEASE$ (CAR) is one of the paraneoplastic neurological syndromes and characterised by @PHENOTYPICFEATURE$.	false
+42079a424fb0d205f1e5526b1adfc69b7ff31314	@DISEASE$ (CAR) is a rare form of @PHENOTYPICFEATURE$ and also one of the paraneoplastic neurologic disorders.	false
+c1957aad85a5be7ba9a6b7290dd0e392e1696951	Autoantibodies against alpha-enolase, a glycolytic enzyme, have been frequently associated with visual loss and @PHENOTYPICFEATURE$ in patients with autoimmune and @DISEASE$; however their role in the pathogenicity of retinopathy has not been fully explained.	false
+27c04eb9aa667f8c783dc0dd5a3bf73cdcbf5321	Our data show that anti-recoverin antibodies are inducers of apoptosis through the mitochondrial pathway involving caspases 9 and 3. We propose that a similar mechanism may be in place in patients with @DISEASE$ where high levels of circulating antibodies have been associated with @PHENOTYPICFEATURE$.	false
+1a95f15da45d2ac32bf70cec12245fd525eadb8b	Autoantibodies against recoverin are found in the sera of patients with @DISEASE$ syndrome, a paraneoplastic disease associated with @PHENOTYPICFEATURE$.	false
+e29146c223c3607c2aa879c84edf9042c94bb77e	@DISEASE$ (CAR) is a rare autoimmune condition associated with various cancers, causing significant @PHENOTYPICFEATURE$.	false
+29b27cfcf0a2e9475913b13bf3aa2dac794b17ec	[The surgical treatment of @DISEASE$-ampullar @PHENOTYPICFEATURE$.	false
+ea20f195fe481094b636f737f6b6ffc7a110cd08	[@DISEASE$-cricoid @PHENOTYPICFEATURE$].	false
+f2bad1c439e57ca5056ba74d125f9ccfd7619864	[@DISEASE$-ampullary @PHENOTYPICFEATURE$].	false
+67e01ee68d526e758867ebcf6c0f5cc9b3561aa0	A rare @DISEASE$ @PHENOTYPICFEATURE$: solitary fibrous tumor.	false
+038bb21aeccc3c30e22936243e3353c91c664c38	The painful manifestations presented as arthralgia, myalgia or episodes of @DISEASE$-@PHENOTYPICFEATURE$; they were associated with active phases of the endocrine disease in 9 cases (45%).	false
+7b5e290875a8c3e3c03c3bf08f0f5aa35921ea4e	@DISEASE$ @PHENOTYPICFEATURE$ simulating an abscess.	false
+a7944ec1da278a4da9f8fe76531065dadf6d062c	[Anal and @DISEASE$ @PHENOTYPICFEATURE$].	false
+649dc9ee3d1d3942495b5aa4ef3f6860b6bde63c	@DISEASE$ giant condyloma Acuminatum-Buschke-L?wenstein @PHENOTYPICFEATURE$.	false
+b05d59e36cc6e2c3c846812fbe24423e6d8d0e65	@DISEASE$ giant condyloma acuminatum (Buschke-L?wenstein @PHENOTYPICFEATURE$).	false
+967bd039b52387e7f2b79073d9b3cf2ed21fcf7d	@DISEASE$-orbital @PHENOTYPICFEATURE$.	false
+8f9896f0180ae1dd93d81f9c706e39932df8065c	Autosomal recessive @DISEASE$ is a clinically heterogeneous group of severe congenital keratinization disorders that is characterized by generalized hyperkeratosis and variable @PHENOTYPICFEATURE$.	false
+1d0b7d6eef3fb5569acabe4e7081aa6cc7188e37	Acute colonic pseudo-obstruction (Ogilvie's syndrome) with @DISEASE$ coma and @PHENOTYPICFEATURE$.	false
+d0da2f78949b29d4e5ca8c858c6cf2d9080060de	[History of a so-called globular heart or of a @DISEASE$ without @PHENOTYPICFEATURE$].	false
+25e8b1ce7a5a352be25c9a6e769a8edac404e8a9	@PHENOTYPICFEATURE$ in association with @DISEASE$.	false
+a5d55f9415d6b526e2de595a5cfe4a42e2f705eb	To our knowledge, this is the first case in which a patient presented with altered mental status from both metabolic (@DISEASE$ coma) and structural diseases (frontal meningioma) with vasogenic @PHENOTYPICFEATURE$ and midline shift.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+57397bb61e51b9986474ffadcdbb96ee176f5bce	Twenty-one months from the initial visit, the patient developed a loss of consciousness and @PHENOTYPICFEATURE$ due to @DISEASE$ coma, a life-threatening state of hypothyroidism.	false
+1b80f40d6784cd6dd90c1035fddb073179a09ecb	Pretibial @DISEASE$ (PM) is a rare autoimmune manifestation of Graves' disease, which commonly presents as diffuse, nonpitting @PHENOTYPICFEATURE$ of shins and less often as plaques, nodules, or elephantiasis lesions mimicking lymphedema.	false
+ac8345568a1dcfc9e23d1428caf3c9322495dace	Ciliary-associated TGR5 plays an important role in cholangiocyte physiology and may contribute to a group of liver diseases referred to as the 'cholangiociliopathies', which include @DISEASE$ (PLD) and, possibly, @PHENOTYPICFEATURE$ and primary sclerosing cholangitis.	false
+6a8a01fb295ca0acf238ea4b727f61756ff32f90	These measures will decrease the incidence of both eye disease and the more severe manifestations of @DISEASE$, which include congenital abnormalities, mental retardation, hydrocephalus and @PHENOTYPICFEATURE$.	false
+c19db89d79f449c3e4f0eb940298e3a38a8da040	@DISEASE$ causes @PHENOTYPICFEATURE$ and mental retardation.	false
+11fc96c8c9d9ec78bbd5196287d1ff134eaf5c35	@PHENOTYPICFEATURE$ as the first manifestation of @DISEASE$.	false
+05a6f087b7c6f8fc2ea5bf46b47c44721fd7c04f	This is a case report describing a 53-year-old woman with @DISEASE$, @PHENOTYPICFEATURE$, and a 6-year history of numbness in bilateral upper extremities, feet, and in the trunk that resolved with initiation of continuous positive airway pressure for her obstructive sleep apnea.	false
+277391745cb8ed577879527ec01ef57c590d7036	A 53-year-old woman with @DISEASE$ was admitted to our hospital with @PHENOTYPICFEATURE$, followed by cardiogenic shock and acute renal failure.	false
+0ecb18da7a67d563cb4d94885706a276e737bd79	That is, the viral-vs-human overlap involves human proteins that, when altered, have been reported to be potentially associated with multiple neurological disorders that can include autism, epilepsy, @PHENOTYPICFEATURE$, dystonia, ataxia-telangiectasia, amyotrophic lateral sclerosis, sensorineural deafness, sudden infant death syndrome, @DISEASE$, and myelination.	false
+bb94dfaa6b463e133dd083006c33ca8d239a47cc	The authors report the case of a 41-year-old white woman with @DISEASE$ who had been recently prescribed sumatriptan and who presented with sudden loss of consciousness associated with @PHENOTYPICFEATURE$.	false
+3137d1669bda87be7d6803f275d4303bdbaf3888	Missense mutations in SIMPLE cause @DISEASE$ (CMT), and altered SIMPLE expression is associated with cancer, @PHENOTYPICFEATURE$ and inflammatory bowel diseases.	false
+920febd365c909d3ade7322cd608a170a01b5b97	@PHENOTYPICFEATURE$ was more common when full-dose CMT was used; N (N or @DISEASE$-N) was associated with increased skin toxicity.	false
+94e88dcd167d97a4b0c81016a4ee0b5e6d266f4f	Dysfunction and mutations in dynamin have been implicated in the pathophysiology of various disorders, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, @DISEASE$, @PHENOTYPICFEATURE$, schizophrenia, epilepsy, cancer, dominant optic atrophy, osteoporosis, and Down's syndrome.	false
+a31db54e8ad31191b20e373b2197d2a0ab85f040	None of the three have seizures, and so in the presence of the brothers' @PHENOTYPICFEATURE$, @DISEASE$ was not considered until a diagnosis was made in the younger distant cousin.	false
+74d99401b8c83aeaff56b1e44af631728d5ecfce	Several findings demonstrate its therapeutic role against neurodevelopmental disorders, including @DISEASE$, Fragile X syndrome, sleep-wake disorders, @PHENOTYPICFEATURE$ and attention-deficit hyperactivity disorder.	false
+9644504d9aab69d443d03a7d9446d77f907e8f6a	Medical genetics and psychiatric evaluations in a 14-year-old female patient with a history of global developmental delay, intellectual disability, overgrowth with @PHENOTYPICFEATURE$, metrorrhagia, seizures, basal ganglia hyperintensities, nystagmus, strabismus with amblyopia, ASD, anxiety, attention deficit hyperactivity disorder (ADHD), aggressive outbursts, and hyperphagia included a karyotype, methylation polymerase chain reaction for Prader-Willi/@DISEASE$, chromosome microarray, and whole exome sequencing (WES), ADOS2, and ADI-R.	false
+539fd48e9817238ff29c5f5216882c4a4a593503	Many categories of sleep related disorders were represented in the classification: parasomnias (confusional arousals/sleepwalking, with or without obstructive sleep apnea; REM sleep behavior disorder); sleep related @PHENOTYPICFEATURE$; @DISEASE$ (KLS); severe chronic insomnia; restless legs syndrome; narcolepsy; sleep exacerbation of persistent sexual arousal syndrome; sleep related painful erections; sleep related dissociative disorders; nocturnal psychotic disorders; miscellaneous states.	false
+a171fcfa834b8c0dd4408db8f8dbd4740f08dc05	It is important to realize that nocturnal frontal lobe @PHENOTYPICFEATURE$ or cluster headaches can be mistaken for night terrors, and craniopharyngiomas or myotonic dystrophy may present as narcolepsy-cataplexy. Hypothalamic dysfunction may explain not only the impaired circadian rhythm disorders in children with profound mental retardation but also excessive sleepiness and hyperphagia in Prader-Willi and @DISEASE$.	false
+ee0674e9cdb8273277485f4602de2a07d78409cb	A large inbred Lebanese pedigree with congenital @DISEASE$, @PHENOTYPICFEATURE$, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied.	false
+dc9a6bdef2910583bf04c5d9549629a69008b312	It is characterized by infantile seizures refractory to anticonvulsive treatments, @PHENOTYPICFEATURE$, delays in mental and motor development, @DISEASE$, dysarthria and other paroxysmal neurologic phenomena, often occurring prior to meals.	false
+847e5dca4a80b6e79c86b9ead9af2046c7b85a6f	We describe a patient with idiopathic @DISEASE$ in whom we proved the coexistence of X-linked hypophosphatemic rickets using family history and @PHENOTYPICFEATURE$.	false
+91c04edd51825ff564eafdccfb608e1ae3005317	CT scan in a 52-year-old woman, admitted because of @PHENOTYPICFEATURE$, showed striopallidodentate calcifications due to postoperative @DISEASE$.	false
+06c097339d764061890c84722346ce09d3e50990	@PHENOTYPICFEATURE$ and epilepsy seizure caused by @DISEASE$.	false
+7526d84f403a7d8101f20d20c4ace265dea107cf	@PHENOTYPICFEATURE$ and intracranial calcification in chronic @DISEASE$.	false
+7c31db53149dbd0515c71fa4f2cb37a196cde8f1	[Association of the malformation ensemble of "Albright's dystrophy" (pseudopseudo-@DISEASE$) and of major endocrinopathies; diabetes, @PHENOTYPICFEATURE$, pheochromocytoma].	false
+668a43217fbd23341464e214ff891383c68a7d34	Notable features of the case include autoimmune hemolytic anemia, probable @DISEASE$, and @PHENOTYPICFEATURE$ hypogonadism.	false
+16d4aac3146a38cac937a14a9ccb2da013731eb7	Notable features of the case include autoimmune hemolytic anemia, probable @DISEASE$, and hypogonadal @PHENOTYPICFEATURE$.	false
+8d852c37e98e019167357d3401c72640e8204d44	@PHENOTYPICFEATURE$ in a thalassemic patient with @DISEASE$ and brain calcinosis.	false
+b5c2908db12d4e3493ce2a77398a1db248ba85fc	@PHENOTYPICFEATURE$ were more frequent than could be expected from the literature, probably because the dental aspects of @DISEASE$ disease often have been overlooked.	false
+a038cb778b714b62ad638e4057bb462f54df1c83	Idiopathic @DISEASE$ (IHP) is accompanied by @PHENOTYPICFEATURE$.	false
+e0d7261ae6d9d207a227a442098559e6873c8a0b	We report a patient with idiopathic @DISEASE$ associated with unilateral calcification of the basal ganglia and contralateral @PHENOTYPICFEATURE$.	false
+1e302f135e5a61f4e61083e44315fca407fe868f	@DISEASE$ is a rare autosomal recessive syndrome characterised by the association of @PHENOTYPICFEATURE$, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities.	false
+62b08c61a101d0999505ef73289319391337a946	Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and @PHENOTYPICFEATURE$; 2) disorders related to androgen excess (congenital adrenal hyperplasia, @DISEASE$ and P450 oxidoreductase deficiency); and 3) other rare disorders.	false
+387d612c0e4ad486b556bb2ee88fc8c55a94117e	In this article, we review the current evidence of the fertility potential of patients with: (1) dysgenetic DSD, including pure and partial @PHENOTYPICFEATURE$, asymmetric gonadal differentiation, ovotesticular DSD and 46,XX testicular DSD; (2) 46,XY DSD due to abnormal testicular hormone production or action, including testosterone production deficiencies, dihydrotestosterone deficiency, androgen insensitivity and defects in anti-M?llerian hormone or its receptor, and (3) 46,XX DSD due to excessive androgen exposure in individuals with no testicular tissue, i.e. congenital adrenal hyperplasia and @DISEASE$.	false
+a4262948368d1a9c50005694b0d78a6fc0649e8e	Two unrelated female patients with @DISEASE$ demonstrated a central gray opacity with distinct @PHENOTYPICFEATURE$.	false
+e567971908f6029bdf861c45a9c317277ce467d3	Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked @DISEASE$ presenting with motor developmental delay associated with @PHENOTYPICFEATURE$ and nystagmus.	false
+54d7c98dff15b3758852ac049d4cce36eb6c9447	The authors present 3 brothers with Pelizaeus Merzbacher syndrome, a rare, x-linked @DISEASE$ in whom the testes bilaterally ascended from the normal scrotal position to an undescended position after onset of @PHENOTYPICFEATURE$.	false
+a1022c0b6d44d678f1a8034176e13e49589e9582	The autosomal recessive mutation hCx47M283T causes Pelizaeus-Merzbacher-like disease 1 (PMLD1), a progressive @DISEASE$ characterized by hypomyelination, retarded motor development, nystagmus, and @PHENOTYPICFEATURE$.	false
+4cdf49cc82cfd9710f03e2bfd5b21e2c27991abe	HDLS (Hereditary Diffuse @DISEASE$ with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and ataxia.	false
+aa0510db1b1aff25d3fcdd6d5a3c7d06956d8652	HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary @DISEASE$ whose main clinical manifestations include parkinsonism, @PHENOTYPICFEATURE$, and ataxia.	false
+8b4be7cb5e679adfc2d2452cc94ccc32e6aff2ab	Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder comprising facial anomalies, @PHENOTYPICFEATURE$, microcorneae, dental enamel hypoplasia, and @DISEASE$.	false
+8858f3564e531b992799dffc88db448a8549a0e3	Autosomal dominant childhood onset slowly progressive @DISEASE$--a Japanese family with spastic paraparesis, ataxia, @PHENOTYPICFEATURE$, and skeletal abnormality.	false
+02b34bd07334e314eeb6a181e84400b0a1055c87	A case study has shown that mutations in the fatty-acid 2-hydroxylase gene may lead to various phenotypes combining the features of @DISEASE$ and NBIA, supporting that @PHENOTYPICFEATURE$ of myelin and iron accumulation may have a common cause.	false
+22533d6a08c465a6e43e944dfe50a4c4174070ac	Infantile familial @PHENOTYPICFEATURE$ with cerebral calcifications and @DISEASE$.	false
+fbab7b1471970ebe7b76bbe05966d749cf3a9e85	Aicardi-Gouti?res syndrome (AGS) is an early-onset monogenic @PHENOTYPICFEATURE$ characterized by intracranial calcification, @DISEASE$ and cerebrospinal fluid lymphocytosis.	false
+432907ec79e24b542a816f5e5a04ee657a5aaee5	In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and @DISEASE$ (leukodystrophy with @PHENOTYPICFEATURE$ and dystonia) spectrum.	false
+259b78f0cd9489b46da3ca482c51c08004ac67f9	In humans it has been associated with phenotypes from the neurodegeneration with brain iron accumulation (fatty acid hydroxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (@DISEASE$ with @PHENOTYPICFEATURE$ and dystonia) spectrum.	false
+8abdf4bfed72ebb31f6c22bed625b1180f808e5d	Epilepsy is the most common and serious neurological symptom in @DISEASE$ syndrome, also characterised by mild dysmorphisms, acquired microcephaly, @PHENOTYPICFEATURE$, hypotonia and ocular abnormalities.	false
+39e515312d6ab31b877747ea3c036f5a06e117fb	Macrocephaly, growth failure, translucent skin, @PHENOTYPICFEATURE$, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the @DISEASE$17q12 syndrome.	false
+465f3e36d7b3f73727dd175ae175c6635dd50dc4	Keratoconus posticus circumscriptus, @DISEASE$, genitourinary abnormalities, @PHENOTYPICFEATURE$, and mental retardation in sibs.	false
+5498e97f30c1b3224133f093bf8b8a16fbd90726	[A new @DISEASE$ syndrome associated with mental retardation, @PHENOTYPICFEATURE$ and skeletal anomalies (author's transl)].	false
+fff20f2cd3115439046e4b565c53f92d64de2863	Only 22.22% of patients with cleft palate and 6.67% with complete @DISEASE$ presented with hypodontia of one type of teeth, whereas 77.78% of cases with cleft palate and 93.33% with complete cleft lip and palate displayed @PHENOTYPICFEATURE$ of more than one type of teeth.	false
+f172f65c6258e514fd069a2518442f729155e3ad	Only 22.22% of patients with cleft palate and 6.67% with complete cleft lip and palate presented with hypodontia of one type of teeth, whereas 77.78% of cases with cleft palate and 93.33% with complete @DISEASE$ displayed @PHENOTYPICFEATURE$ of more than one type of teeth.	false
+2ed202a5a986e1d831eb2017b4e893558346b272	Only 22.22% of patients with cleft palate and 6.67% with complete @DISEASE$ presented with @PHENOTYPICFEATURE$ of one type of teeth, whereas 77.78% of cases with cleft palate and 93.33% with complete cleft lip and palate displayed hypodontia of more than one type of teeth.	false
+d3af58e7a47fb871348d90ad0a7970b20ae85fb8	Only 22.22% of patients with cleft palate and 6.67% with complete cleft lip and palate presented with @PHENOTYPICFEATURE$ of one type of teeth, whereas 77.78% of cases with cleft palate and 93.33% with complete @DISEASE$ displayed hypodontia of more than one type of teeth.	false
+c841beac43756f0a928a8d32b10f6d823496c393	The infant had multiple dysmorphic features, @DISEASE$, @PHENOTYPICFEATURE$, diverticulum of right ventricle, and hydrocephalus with cerebellar hypoplasia, with absent corpus callosum and cerebellar vermis.	false
+12910364c7a027b40ca63c8b13cd3d86faf2812a	@PHENOTYPICFEATURE$, mental retardation, eye anomalies, and @DISEASE$.	false
+6be6f18a2890972c6f2e4ef16e740034a4d81e0b	We report on a 26-year-old patient presenting with extremely @PHENOTYPICFEATURE$ (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, @DISEASE$, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31	false
+91abef0f62e59af464554f7ca3d16288e25436b1	We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), @PHENOTYPICFEATURE$, @DISEASE$, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31	false
+393896bc5125c78cfaf4cf65d82170281c7ce436	TBX22 mutation associated with @DISEASE$, @PHENOTYPICFEATURE$, and limb anomaly.	false
+4891365c41067d42717b4d6a850c66149c12f3e6	@DISEASE$, @PHENOTYPICFEATURE$, and widow's peak are frequently present.	false
+bdb091618feed30a24338964aa0af136cad4511e	Pathological investigations revealed developmental disorders such as @DISEASE$, ventricular septal defect and @PHENOTYPICFEATURE$, which are difficult to detect using ultrasonography.	false
+72f17bcaec0f562edec71a92834c01fc488a33a1	CNS anomalies were most commonly associated with @PHENOTYPICFEATURE$ including @DISEASE$ etc.	false
+858a2aa270cf21bdf533dc14357582c0c209bcb5	In France over the period of time considered, almost 2 @DISEASE$ meningitis, 60 000 encephalitis, 170 subacute sclerosis panencephalitis and more than 5600 neurological sequaela including more than 600 @PHENOTYPICFEATURE$ cases have been avoided as a result of the MMR vaccination programme.	false
+09001e41653fb0fcd22c0f6a07b53bf389e3218a	Rapid impulse propagation is a defining attribute of the pectinated atrial myocardium and His-Purkinje system (@DISEASE$) that safeguards against atrial and @PHENOTYPICFEATURE$, conduction block, and myocardial dyssynchrony.	false
+1d2f784ed383d4ece1bcc2d16a3269cedd1d4ba5	Rare complications including infection-associated @DISEASE$, @PHENOTYPICFEATURE$, and adrenal insufficiency were detected and successfully managed.	false
+e0bf9e378c470eff9462a38e4d521a682ff3aabf	Taken together, our findings indicate that stress is a most likely trigger of cardiac arrhythmia in broilers, whereas the pathological changes seen in the myocardium and in the @DISEASE$ in fast growing broilers provide a very conducive milieu for sustained @PHENOTYPICFEATURE$.	false
+c6a4bde114b1bbe50b64a7b03f81c702e5c384f0	Both @DISEASE$ and hypereosinophilic syndrome have been associated with @PHENOTYPICFEATURE$ and are respectively related to an overproduction of the cytokines Thelper 1 (Th1) and Th2 by tumor cells or reactive cells.	false
+e7b5aec7a4e2276705c77a5507fbbc2ca7a793e9	Transient diaphyseal tibial Tc-99m MDP uptake and bone marrow @PHENOTYPICFEATURE$ in @DISEASE$.	false
+53c3e9be8adc3285d111149f70d37305303c5e8b	asthma, arthritis, @DISEASE$, @PHENOTYPICFEATURE$, infections, snakebite and related inflammatory diseases.	false
+ff2dcd7bbee78e792622514db091fdd963fd6c2d	During IPPB, the average PCWP was in the normal range in patients with toxic or neurologic comas and in cases of increased pulmonary capillary permeability @PHENOTYPICFEATURE$ (IPCPE), PCWP slightly increased within chronic obstructive pulmonary disease (COPD) complicated with @DISEASE$ and in hemodynamic acute pulmonary edema (HAPE).	false
+770c684c629c95b1c3d3073508d33a36e56b0cfe	In the 2 with @DISEASE$ capillary dilatations, polynuclear infiltrates and interstitial @PHENOTYPICFEATURE$ was found.	false
+58b2badff14d83ec7dd712e844e44b51bd9b1fdc	At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of @DISEASE$ (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, @PHENOTYPICFEATURE$ vasculitis, Raynaud's phenomenon).	false
+36a5890671bdcec399fa73990effd0041b3762dd	@DISEASE$ (CCD) is a congenital human myopathy associated with mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1), resulting in skeletal muscle weakness and @PHENOTYPICFEATURE$.	false
+8a2129f054dcf4b69ee73293004ff8310cc8c786	Evolution of bone mineral density (BMD) at various skeletal sites and the influence of calcitriol on @DISEASE$ are still poorly documented in patients with terminal @PHENOTYPICFEATURE$.	false
+f6ad34e93fbfc17c487fe31a269cc102ec008547	Evolution of bone mineral density (@DISEASE$) at various skeletal sites and the influence of calcitriol on BMD are still poorly documented in patients with terminal @PHENOTYPICFEATURE$.	false
+f1b0a5efe3f3c095ed54abdcaa27f949a9032cd0	We will also review the mild @PHENOTYPICFEATURE$ associated with the currently unexplained high bone mass phenotype and discuss recent advances in osteoporosis therapies arising from improved understanding of rare inherited high @DISEASE$ disorders.	false
+3b73d232c27d849237e0cf9b923d8716434646aa	Two DMD patients and one @DISEASE$ patient had positive @PHENOTYPICFEATURE$ tests.	false
+b6a155543ac369d1b9966e34e2fdd5b84843e173	@PHENOTYPICFEATURE$, scoliosis, hip dysplasia, and metallic implants often prevent reliable measures of bone mineral density (@DISEASE$) in the proximal femur and lumbar spine, where BMD is commonly measured.	false
+85d0740e697e36d1069f4b9486c14e85ce0e339e	@PHENOTYPICFEATURE$, scoliosis, hip dysplasia, and metallic implants often prevent reliable measures of bone mineral density (BMD) in the proximal femur and lumbar spine, where @DISEASE$ is commonly measured.	false
+d69a9934de2298ae7930602d2c0e8ea309d7f7c7	Our data showed that patients with @PHENOTYPICFEATURE$ on dialysis had reduced bone densities as manifested by a reduction in total body BMD, femoral neck BMD, and Ward's triangle @DISEASE$.	false
+1f126b8eabd58a74afeb3b5c57ed242d851766d2	Our data showed that patients with @PHENOTYPICFEATURE$ on dialysis had reduced bone densities as manifested by a reduction in total body BMD, femoral neck @DISEASE$, and Ward's triangle BMD.	false
+d17495ce68d7b889e939c31408006cb9a056fc67	Our data showed that patients with @PHENOTYPICFEATURE$ on dialysis had reduced bone densities as manifested by a reduction in total body @DISEASE$, femoral neck BMD, and Ward's triangle BMD.	false
+6ae17393add1a3500b8a62eb8194928765587a34	Cerebral embolism may be a notable complication in patients with @DISEASE$ presenting with late-life expression of skeletal @PHENOTYPICFEATURE$ and antecedent cardiac involvement.	false
+513eb34c2ecd1d6c5675b6e0f88f02f6f45988d7	The prognostic value of measuring hand bone mineral density (@DISEASE$) in patients with early @PHENOTYPICFEATURE$ (EA) has been recently assessed.	false
+57149511ebf0e539108986e39de810916059326e	Leri-Weill syndrome (LWS) is a @PHENOTYPICFEATURE$ with mesomelic short stature, bilateral Madelung deformity (@DISEASE$) and SHOX (short stature homeobox-containing gene) haploinsufficiency.	false
+a0a2756e0409cb846aa2cf2c520592d4bbd87495	Both appendicular and axial @DISEASE$ decreased with the worsening of @PHENOTYPICFEATURE$.	false
+9145b66d15d4a132d3503bd34b22bc9b5526f512	Factors other than ADT-associated bone loss contributing to this fracture risk include both decreased @DISEASE$ before ADT and an increased tendency to fall associated with @PHENOTYPICFEATURE$, impaired balance, and postural hypotension.	false
+3cf244d283acca9a66a3bc2649453f0ab4722d26	MME overexpression could also interrupt @DISEASE$ @PHENOTYPICFEATURE$ cell adhesion.	false
+3ef22f5c7595913d3670b8533e842280a73a18c4	FOXQ1 overexpression promotes ESCC @PHENOTYPICFEATURE$ cell proliferation, whereas FOXQ1 silencing prevents @DISEASE$ tumor cell proliferation.	false
+e2bf96e9a91ec5e40bc6b99f2ddfcc3d5d7b3da4	FOXQ1 overexpression promotes ESCC tumor cell proliferation, whereas FOXQ1 silencing prevents @DISEASE$ @PHENOTYPICFEATURE$ cell proliferation.	false
+fbc60d71aa96da7ed05a3c1363afbb62a28ab9e6	FOXQ1 overexpression promotes @DISEASE$ @PHENOTYPICFEATURE$ cell proliferation, whereas FOXQ1 silencing prevents ESCC tumor cell proliferation.	false
+e9637d36cf1a1715e46f6139b498bd1313c66ee6	FOXQ1 overexpression promotes @DISEASE$ tumor cell proliferation, whereas FOXQ1 silencing prevents ESCC @PHENOTYPICFEATURE$ cell proliferation.	false
+a3169acad6f7583e82e85145fd3215e5cb721363	The molecular and genetic changes underlying esophageal squamous cell carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ formation and rapid progression are poorly understood.	false
+7e83de00d3ce1591741c9d2a35429152e18e4e11	The molecular and genetic changes underlying @DISEASE$ (ESCC) @PHENOTYPICFEATURE$ formation and rapid progression are poorly understood.	false
+e5e7a2eb832f5e58c0de43957aec2b3861ca66aa	and PTPRD (9p23) were also splitting in @DISEASE$ @PHENOTYPICFEATURE$.	false
+850cdb150e5d956480db7938831aab23503e8a8f	Of 150 @DISEASE$ @PHENOTYPICFEATURE$ samples, 27 (18.0%)	false
+f7ea1542749bd25e76a5c9889988952e3a287f25	SOX15 was found aberrantly overexpressed in @DISEASE$ @PHENOTYPICFEATURE$.	false
+90452f04c9d006dcd1a33c5539c8ef8a10dc05d3	MicroRNA-21 expression was significantly increased in @DISEASE$ @PHENOTYPICFEATURE$ tissues.	false
+d60e1b63f061e50dc35b2b8d1ab0042a1599b4a1	Correlation between RhoA overexpression and @PHENOTYPICFEATURE$ progression in @DISEASE$.	false
+c54f92950cd07ed74d9626d0bbeff30f133c3be0	66 primary @DISEASE$ @PHENOTYPICFEATURE$ tissues and four sets of tissue microarrays including 705 primary ESCC tumor tissues from four centers were collected and analyzed.	false
+38dc2e649ca51cebe8ccfae48bf6377bfc3707ac	66 primary @DISEASE$ tumor tissues and four sets of tissue microarrays including 705 primary ESCC @PHENOTYPICFEATURE$ tissues from four centers were collected and analyzed.	false
+5410cd713edc207fb6f6ea9ef1103861dfd59d0e	66 primary ESCC @PHENOTYPICFEATURE$ tissues and four sets of tissue microarrays including 705 primary @DISEASE$ tumor tissues from four centers were collected and analyzed.	false
+d054faf05bcc7cd54440d92e6762879be469338d	66 primary ESCC tumor tissues and four sets of tissue microarrays including 705 primary @DISEASE$ @PHENOTYPICFEATURE$ tissues from four centers were collected and analyzed.	false
+50f0980b069c5addcb3e7eb800dcaa0aa81d2ab0	We aimed to investigate whether SPINT2 might act as an esophageal squamous cell carcinoma (@DISEASE$) @PHENOTYPICFEATURE$ suppressor gene.	false
+94cf25b1b4f0a3b6cf8f870ddadb50310e91064a	We aimed to investigate whether SPINT2 might act as an @DISEASE$ (ESCC) @PHENOTYPICFEATURE$ suppressor gene.	false
+0223b857ce97012ed135581f107c9e47600861d6	Here we show, using whole-exome and transcriptome sequencing, that @DISEASE$ tumors are characterized by substantial @PHENOTYPICFEATURE$ heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication.	false
+0df0c8d7da166db2ec092885e4f212b4fcb121e3	Lateral meningocele syndrome (@DISEASE$) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific @PHENOTYPICFEATURE$, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness.	false
+726f8aff73a5b0f4574e575b9815b6d1f2d4e256	A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), @DISEASE$ (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (@PHENOTYPICFEATURE$, dystonia, chorea, choreoathetosis, myoclonus).	false
+714adecd0b567a90d185324c60950e32e5beb610	@DISEASE$ (AMS) is a unique form of congenital universal @PHENOTYPICFEATURE$.	false
+7e76d941caf81515b9550e95dd0c53d0d1a62502	@PHENOTYPICFEATURE$ and gingival hyperplasia are termed as @DISEASE$ (AS), which can be noticed at birth or soon after.	false
+069c435a0c245058d08fb707637e095dda6479e2	[Ciliary hypertrichosis and facial dysmorphia associated with diffuse, congenital @PHENOTYPICFEATURE$: @DISEASE$?].	false
+2a9785030f241735da475b96819acd5f7b007c46	@DISEASE$ (AMS) is a unique form of universal congenital @PHENOTYPICFEATURE$.	false
+7e9755710e3dc8396acc60264df93f93f034d7e3	@DISEASE$ (AS) is a rare form of congenital @PHENOTYPICFEATURE$ with excessive hair on the shoulders, face and ears.	false
+661db9be408ed250142461475d57705978aea3ea	@DISEASE$ is a rare and special form of congenital @PHENOTYPICFEATURE$, characterized by dysmorphic facial features and familial pattern of inheritance.	false
+e09d60628e4c8d3568bb0d4c7a7354d667909728	A second diagnostic grouping, comprised of @DISEASE$, Cockayne syndrome, and Cerebral-oculo-facial skeletal syndrome, share similar features of somatic @PHENOTYPICFEATURE$, ophthalmologic, and dysmorphologic features.	false
+65b4019b4d6ef6cc082d6e9af9f01b8f8326d411	Till date, no @PHENOTYPICFEATURE$ have been reported in @DISEASE$.	false
+92c2189806dd56dbe5edf321c70757ba8c13659a	In patients maintained on haemodialysis pericarditis is characterized by a protracted course, severe @DISEASE$, ability to cause or intensify @PHENOTYPICFEATURE$, to produce cardiac rhythm disorders.	false
+b3e3c21cf230e79b913d27cf689e3b1403948ce0	The main features of transplant bone disease include the osteopenic-osteoporotic syndrome, often complicated by fractures, avascular osteonecrosis of bones, bone @DISEASE$ and @PHENOTYPICFEATURE$ in the children.	false
+fd06206207984ac3806ecc6877552c80acb2d3c2	To address these limitations we performed a cohort study of major lifestyle factors (@PHENOTYPICFEATURE$, smoking and hypertension) and chronic prostatitis/chronic pelvic @DISEASE$ risk in the HPFS (Health Professionals Follow-up Study), a large ongoing cohort of United States based male health professionals.	false
+ce8b93ecd793380d4afc0410746a2fbf1d905944	Survey of 250 men with category III chronic pelvic @DISEASE$/ chronic prostatitis (CPPS/CP-III) showed that the urological disease often proceeds against the background of @PHENOTYPICFEATURE$ (29.6%), androgen deficiency (38.4%), increased tone of sympathetic nervous system (62.9%) and the activation of the plasma lipid peroxidation system (oxidative stress) (100%), with significant correlations between these factors.	false
+ac3151ae90f47db5a098f5a7b757965c43c61269	Univariate analysis was then applied to study the significance of the following factors in the predisposition of ED: smoking, use of recreational drugs, @PHENOTYPICFEATURE$, dyslipidemia, diabetes mellitus, hypertension, coronary heart disease, and chronic pelvic @DISEASE$.	false
+425ef7cd119690e1f2d7d79eba22565dada3526f	Various clinical symptoms like @PHENOTYPICFEATURE$ (n?=?3), seizures (n?=?1), meningitis (n?=?1), optical nerve involvment with vision disorder (n?=?1), myelitis with paraplegia (n?=?1), mastoiditis with hearing loss (n?=?1), back @DISEASE$ (n?=?2) were present.	false
+14464ffe243d617a7032b512e1c2e63089a3c485	A case of opportunistic @PHENOTYPICFEATURE$ with Mycobacterium marinum during adalimumab treatment in a patient with @DISEASE$.	false
+366f16f9f339fef3d99abb5150970a71642c7f10	Thalidomide in @DISEASE$ and the risk of @PHENOTYPICFEATURE$.	false
+0665aa8150d059ab0adb632386bf879d9ec89692	@PHENOTYPICFEATURE$ and @DISEASE$.	false
+bfbb39fdcc8dda1d3424c033676858ef9417e008	The case of a 25-yr-old female with @DISEASE$ who developed recurrent @PHENOTYPICFEATURE$ nodules on her lower extremities is described.	false
+80e2b9c920601f15ed6d3940cd2d592ca0302a45	Affected patients have oculocutaneous @PHENOTYPICFEATURE$, a bleeding diathesis, and sometimes develop @DISEASE$ or pulmonary fibrosis.	false
+faa46140ab14c5bae4bf1fe7eca33d898dd61cf0	@PHENOTYPICFEATURE$ (SDs) are commonly reported in patients with @DISEASE$ (CD).	false
+356120880755c915e04b522147e5789f45347624	@DISEASE$ in oculocutaneous @PHENOTYPICFEATURE$.	false
+1c43ea8c00ede8eb5189b5664a85274d223d5801	@PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+8528c5f98d3466f316c1bb06049c9fd4081394d5	HPS causes oculocutaneous @PHENOTYPICFEATURE$, bleeding diathesis and @DISEASE$ or pulmonary fibrosis.	false
+1ba312570b7d8e60948ebfc93556381b57501c6b	We report a male patient who presented with penile and scrotal @PHENOTYPICFEATURE$ and inguinal fistulas as the first manifestations of @DISEASE$.	false
+b25fb18b376cbcc3869cc0a56ba2e79d1d58642f	@DISEASE$ (CS) is a rare disorder characterized by severe @PHENOTYPICFEATURE$, white matter (WM) hypomyelination and basal ganglia calcifications.	false
+b16a996d1faf3e785f6d2cb63bd82eab346513d7	[@DISEASE$ associated with @PHENOTYPICFEATURE$ and XY/XO mosaicism].	false
+db45b83249ad9c43efb50e999e5e469227395007	Vascular @DISEASE$ familial hemorrhagic disease in males and females characterized by combined antihemophilic globulin deficiency and @PHENOTYPICFEATURE$.	false
+d167e14b65c9773e5c4ee454ef528d8d0235afc4	A 9 year-old boy presented to our clinic with @DISEASE$, microcephaly, a seizure disorder, multiple midline abnormalities (@PHENOTYPICFEATURE$, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils.	false
+5276a7cdc824c0a520e3b767bd49e912164abba0	A 1(1/2)-month-old baby with @PHENOTYPICFEATURE$, lethargy and refusal of feeds was diagnosed to have intracranial hemorrhage due to @DISEASE$.	false
+a87f6a32a1b7fc92e5d45534e0e0574749bd46ca	It constitutes the best marker on the X chromosome and should be of great use for the genetic study of three important diseases: @DISEASE$, @PHENOTYPICFEATURE$ with a fragile X chromosome, and adrenoleukodystrophy.	false
+f15d15b2048260168a7c81ea1de606002a297f58	Here, we report a case of @DISEASE$ with myocarditis, @PHENOTYPICFEATURE$, and spontaneous intramedullary hemorrhage.	false
+5897cb0b41a42e681489e026ca1e6800709f459d	This protocol enables the correction of large inverted segments and short nucleotide repeat expansions in diseases such as @DISEASE$, fragile X syndrome, Hunter syndrome, and Friedreich's @PHENOTYPICFEATURE$.	false
+7889142bbc07f3d9e4dcb7a128e287ca9728a024	Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and @DISEASE$, ligamentous laxity, recurrent middle ear infections, and @PHENOTYPICFEATURE$--were observed, but each feature was only found once, in a single patient.	false
+82e7ba9794a84a572206936b64e43cfb03963291	Our study aimed to assess the ability of three widely used tools [@DISEASE$, OSTA, and FRAX] to discriminate fracture status in patients with @PHENOTYPICFEATURE$ undergoing hemodialysis.	false
+8a2129f054dcf4b69ee73293004ff8310cc8c786	Evolution of bone mineral density (BMD) at various skeletal sites and the influence of calcitriol on @DISEASE$ are still poorly documented in patients with terminal @PHENOTYPICFEATURE$.	false
+f6ad34e93fbfc17c487fe31a269cc102ec008547	Evolution of bone mineral density (@DISEASE$) at various skeletal sites and the influence of calcitriol on BMD are still poorly documented in patients with terminal @PHENOTYPICFEATURE$.	false
+f1b0a5efe3f3c095ed54abdcaa27f949a9032cd0	We will also review the mild @PHENOTYPICFEATURE$ associated with the currently unexplained high bone mass phenotype and discuss recent advances in osteoporosis therapies arising from improved understanding of rare inherited high @DISEASE$ disorders.	false
+3b73d232c27d849237e0cf9b923d8716434646aa	Two DMD patients and one @DISEASE$ patient had positive @PHENOTYPICFEATURE$ tests.	false
+b6a155543ac369d1b9966e34e2fdd5b84843e173	@PHENOTYPICFEATURE$, scoliosis, hip dysplasia, and metallic implants often prevent reliable measures of bone mineral density (@DISEASE$) in the proximal femur and lumbar spine, where BMD is commonly measured.	false
+85d0740e697e36d1069f4b9486c14e85ce0e339e	@PHENOTYPICFEATURE$, scoliosis, hip dysplasia, and metallic implants often prevent reliable measures of bone mineral density (BMD) in the proximal femur and lumbar spine, where @DISEASE$ is commonly measured.	false
+d69a9934de2298ae7930602d2c0e8ea309d7f7c7	Our data showed that patients with @PHENOTYPICFEATURE$ on dialysis had reduced bone densities as manifested by a reduction in total body BMD, femoral neck BMD, and Ward's triangle @DISEASE$.	false
+1f126b8eabd58a74afeb3b5c57ed242d851766d2	Our data showed that patients with @PHENOTYPICFEATURE$ on dialysis had reduced bone densities as manifested by a reduction in total body BMD, femoral neck @DISEASE$, and Ward's triangle BMD.	false
+d17495ce68d7b889e939c31408006cb9a056fc67	Our data showed that patients with @PHENOTYPICFEATURE$ on dialysis had reduced bone densities as manifested by a reduction in total body @DISEASE$, femoral neck BMD, and Ward's triangle BMD.	false
+513eb34c2ecd1d6c5675b6e0f88f02f6f45988d7	The prognostic value of measuring hand bone mineral density (@DISEASE$) in patients with early @PHENOTYPICFEATURE$ (EA) has been recently assessed.	false
+57149511ebf0e539108986e39de810916059326e	Leri-Weill syndrome (LWS) is a @PHENOTYPICFEATURE$ with mesomelic short stature, bilateral Madelung deformity (@DISEASE$) and SHOX (short stature homeobox-containing gene) haploinsufficiency.	false
+a0a2756e0409cb846aa2cf2c520592d4bbd87495	Both appendicular and axial @DISEASE$ decreased with the worsening of @PHENOTYPICFEATURE$.	false
+8db0336688365eec23ba27d07f6736949481b3b2	This study evaluated bone mineral density (@DISEASE$) loss in endocrinopathies [Graves' disease (GD), type 1 diabetes mellitus (T1DM), @PHENOTYPICFEATURE$ (HypoH), hypergonadotropic hypogonadism (HyperH), hypopituitarism, primary hyperparathyroidism (PHPT)] as compared to age-related BMD loss [postmenopausal osteoporosis (PMO), andropause].	false
+0be5681cf9b56649abd978ffdd68355842470492	This study evaluated bone mineral density (BMD) loss in endocrinopathies [Graves' disease (GD), type 1 diabetes mellitus (T1DM), @PHENOTYPICFEATURE$ (HypoH), hypergonadotropic hypogonadism (HyperH), hypopituitarism, primary hyperparathyroidism (PHPT)] as compared to age-related @DISEASE$ loss [postmenopausal osteoporosis (PMO), andropause].	false
+58a6cc3cd0ee92b758cbfdd6b398c58c57bacbd1	Correlation of @PHENOTYPICFEATURE$ necrosis factor levels in the serum and cerebrospinal fluid with clinical outcome in @DISEASE$ patients.	false
+28b20c80b8ddf0f57d58006f76374eeb0157d927	Review of her records revealed that the diagnosis of @DISEASE$ was made at the age of 2(1/2) when the mother reported repeated attacks of afebrile (hypoglycemic) convulsions, increasing abdominal girth and @PHENOTYPICFEATURE$.	false
+d7af04fe5ac5b89c39d8acd901d094715cc32cb6	Impaired autophagy contributes to @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+f6335cb2b626e90ca0247c5bb93a57141f53b8cf	To gain further insight into the possible role of myostatin in primary muscle diseases, the authors investigated the expression of muscle myostatin in children with congenital fiber type 1 disproportion, in others with @PHENOTYPICFEATURE$, in others with myotonia congenita, in others with infantile @DISEASE$, in others with Prader-Willi syndrome, and in 4 age-matched controls.	false
+369e290e46cb5344f22a601dca3839550a742b47	@DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+48c534078200d672541f36ef4f0ef532155de522	Bilateral, asymmetric @PHENOTYPICFEATURE$ developed in a 37-year-old woman with a history of congenital @DISEASE$.	false
+4c532bd42a75af44b622e5240c803eb172ce294e	We report a case of congenital @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+6a6ef66557094ac705339dd3237fbbf1bf39e032	@PHENOTYPICFEATURE$ following intercostal nerve neurolysis with alcohol and thoracic epidural injection in @DISEASE$ patient.	false
+29e3d8ff16a1f8d076012153d7407c1fd10cd5a0	Symptoms of pulmonary drug toxicity in advanced @DISEASE$ patients may frequently be attributed to disease progression, @PHENOTYPICFEATURE$, or infection.	false
+87969635029143bcdffc67189cbbe07d614bed85	Endobronchial @PHENOTYPICFEATURE$ coexisting with a @DISEASE$.	false
+0bc5ea0ac7a401cdd11e6995ba8c164faf8e164f	We experienced 14 cases of resected pulmonary @PHENOTYPICFEATURE$, and 3 of them had @DISEASE$, showing that 21.4% of pulmonary hamartoma coexisted with lung cancer.	false
+7f959d51fdb1b82924a97afc20336c2519e463a9	We experienced 14 cases of resected pulmonary @PHENOTYPICFEATURE$, and 3 of them had lung cancer, showing that 21.4% of pulmonary hamartoma coexisted with @DISEASE$.	false
+ef68e985512819f7f3dae134bb556eb372e34c98	We experienced 14 cases of resected pulmonary hamartoma, and 3 of them had @DISEASE$, showing that 21.4% of pulmonary @PHENOTYPICFEATURE$ coexisted with lung cancer.	false
+bcc626c34a5b701d94b516c2b930fcfc5111a5c2	We experienced 14 cases of resected pulmonary hamartoma, and 3 of them had lung cancer, showing that 21.4% of pulmonary @PHENOTYPICFEATURE$ coexisted with @DISEASE$.	false
+fa99c0f5684c12187729680e8cacbb09ea446ecd	Advanced @DISEASE$ presenting with a @PHENOTYPICFEATURE$ in pregnancy.	false
+9e06b65d83b31c0da10f8691af6976e0426fcdb6	[Differential diagnosis of peripheral @DISEASE$ and @PHENOTYPICFEATURE$].	false
+1762e634b6ef45a2d3bfd74eb66b255957168f2a	[A case of synchronous primary @DISEASE$ with @PHENOTYPICFEATURE$].	false
+92dc858af3f6b9efd0d40ed29fee5cd6cfb4c92c	Risk of @PHENOTYPICFEATURE$, @DISEASE$, leukaemia and larynx cancer were increased among workers in rubber industry.	false
+05dd507855ed82f59e3610c16361c0168d970502	Coexistence of @DISEASE$ and @PHENOTYPICFEATURE$.	false
+a83b857bcea0b2d49bf05952e55c11ab9d3672c9	[@DISEASE$ and chondromatous @PHENOTYPICFEATURE$: a case report].	false
+80e1f88b1215d8a7e1361c2d5a661237633e1da1	@DISEASE$ (ALS8) is a familial form of motor neuron disease, with predominance of lower @PHENOTYPICFEATURE$, and is caused by mutation of the vesicle-associated membrane protein-associated protein B (VAPB).	false
+ddbdb9f4ff431d07de68c63b1397ec52ed65ac4c	We present a case of @PHENOTYPICFEATURE$ with all the clinical and partly immunohistochemical features of disseminated undifferentiated @DISEASE$, and 'accidentally' treated as such.	false
+e320312d6625b9a6063744e0c9cccfd37b278719	@PHENOTYPICFEATURE$ mimicking @DISEASE$ and responding to vinorelbine/carboplatin and pemetrexed/carboplatin.	false
+d0dc005c7331e2bd89a7b8e4281ef2a117ed3819	@PHENOTYPICFEATURE$ (SCLC) is the most aggressive type of @DISEASE$.	false
+d61fef3c8783472aa551dca854f20deb63acf318	@PHENOTYPICFEATURE$ tumor microenvironment confers chemoresistance to @DISEASE$ cells by reprogramming mitochondrial metabolism in vitro.	false
+396c0f0c859889cb8e4c64a526a2247cc23db461	@DISEASE$ presenting as @PHENOTYPICFEATURE$.	false
+55796f22fc71bb7b9d3280fc6f94f719d643cbbb	@DISEASE$ with @PHENOTYPICFEATURE$.	false
+e4bf88e1144f2d5750c11d61bb04a073d355ff2a	To identify a link between sleep disordered breathing, nocturnal @PHENOTYPICFEATURE$, and @DISEASE$.	false
+5431eb22fc1713b5f39ee25358e9d2e47e937370	@PHENOTYPICFEATURE$ and fatigue are frequent in @DISEASE$ patients.	false
+b904028d8b637e64d23de5bc7c4284746a7cd5f6	@PHENOTYPICFEATURE$ (SCLC) constitutes approximately 16% of all primary @DISEASE$, with more than 35,000 new cases per year.	false
+6db75ea44a3f67b67d67474e37aa322f521e84e2	@DISEASE$, in particular @PHENOTYPICFEATURE$ (SCLC), is a very aggressive solid tumour with limited therapeutic options to date.	false
+4af1889a05dbdaa31a325291d2bdeca65b0e1a94	@DISEASE$ (LADII) is characterized by defective selectin ligand formation, recurrent infection, and @PHENOTYPICFEATURE$.	false
+ccb1e876f88f86cde568a424f86b84c928c5254e	Tyrosinemia type II or Richner-Hanhart Syndrome (@DISEASE$) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	false
+0b67d26248c62d464e0d489ff68f536525f6b6b4	Tyrosinemia type II (Richner-Hanhart syndrome, @DISEASE$) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	false
+cbf21b175a18699fb3fd261bf17063031b577103	Clinically, both syndromes are characterized by recurrent bacterial infections, more severe in LAD I. Developmental abnormalities (growth and @PHENOTYPICFEATURE$) constitute a prominent feature of @DISEASE$ and may be attributed to a general defect found in fucose metabolism in LAD II.	false
+5b3d37e935719a26311dfca1e5bd4a6dfe8e1691	Tyrosinemia type II (Richner-Hanhart syndrome, @DISEASE$) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, @PHENOTYPICFEATURE$, and elevated blood tyrosine levels.	false
+e1aae9eb935b3e70bd6b9f9043f015f117d84f74	This patient presents the clinical features of @DISEASE$ (LAD II) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+65d18d630f3e221be987db0831ebbc0b393bb337	This patient presents the clinical features of leukocyte adhesion deficiency type II (@DISEASE$) including @PHENOTYPICFEATURE$, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.	false
+191e02b80ddd16257f204ce094b845b73583823c	@DISEASE$: an underdiagnosed cause of @PHENOTYPICFEATURE$ and dystonia-dyskinesia syndrome in children.	false
+99f528192fcba3b8a955296391059f476aa316e3	@DISEASE$ is characterised by untreatable congenital dislocation of multiple body joints, along with marked @PHENOTYPICFEATURE$.	false
+f7f8f4f9846bfa3421940bed31b96fe8cc6e0111	Aside from secondary joint changes and the presence of @PHENOTYPICFEATURE$, changes described in children with autosomal recessive @DISEASE$ were noted.	false
+9c6fb6403efc288fd48fd4b30ab9b855b4b7c025	We report on a 3 generation study of a Tunisian family, in which eight subjects had or have features of @DISEASE$: three siblings, two females and one male are affected with flattened facies, multiple congenital joint dislocations, and club @PHENOTYPICFEATURE$.	false
+d25d95ec80562043aa4dcb1a4be0be6d4c1a0470	The strongest evidence for linkage to @PHENOTYPICFEATURE$ was detected on chromosome Xq24, with the marker DXS6804 providing a maximum likelihood score (@DISEASE$) 3.14 in a model-free 2-point sibpair analysis.	false
+6df5a22592f90693e63787bb37b602c0814ba59e	To retrospectively study the effects of minimally invasive single-stage multilevel surgery (MISS @DISEASE$) for treating patients with @PHENOTYPICFEATURE$/hypopnea syndrome (OSA) on quality of life (QOL).	false
+56ac522e7655ea6f977149c6146cf6fc5ae3bc00	mg/kg intravenously) with molsidomine (@DISEASE$)(4 mg sublingually) were compared with those of DIG and MLS considered alone in 12 patients with @PHENOTYPICFEATURE$ following acute myocardial infarction.	false
+34e449404988dc0ce92632d1e36006678c110844	mg/kg intravenously) with molsidomine (MLS)(4 mg sublingually) were compared with those of DIG and @DISEASE$ considered alone in 12 patients with @PHENOTYPICFEATURE$ following acute myocardial infarction.	false
+e27858f36013ca4ad61c67557e92670697b54fd7	In 1982, BMT was successfully performed on a 13-year-old girl with @DISEASE$ with @PHENOTYPICFEATURE$, typical facial features, skeletal and joint deformities, hepatosplenomegaly, cardiopulmonary dysfunction, and corneal clouding.	false
+7d68c2545a7d3957565516ba30d2e6d54fe7018b	@PHENOTYPICFEATURE$ in @DISEASE$.	false
+215be2e9692a4add08543cbf5ed21ecb5b7f7d5c	Beside the classical @DISEASE$ phenotype, occasional features such as sclerocornea, agenesis of the corpus callosum, and @PHENOTYPICFEATURE$ can occur.	false
+4673044fa2340833edd7833634d0d09ea15a6320	@DISEASE$ has also been called LEOPARD syndrome (Gorlin et al. 1969), thus being an acronym that memorizes the various anomalies involved: L = lentigines, E = ECG anomalies, O = ocular hypertelorism, P = pulmonary stenosis, A = anomalies of the genital organs, R = retarded growth, D = @PHENOTYPICFEATURE$.	false
+172f949991ac905d42829521bc31f666a6d7a93f	@DISEASE$ has also been called LEOPARD syndrome (Gorlin et al. 1969), thus being an acronym that memorizes the various anomalies involved: L = lentigines, E = ECG anomalies, O = @PHENOTYPICFEATURE$, P = pulmonary stenosis, A = anomalies of the genital organs, R = retarded growth, D = deafness.	false
+6d984fe247e6dd57cf6df3b5f28e9a81c71a875c	We tested whether prenatal cocaine exposure increases the likelihood of @PHENOTYPICFEATURE$ in 561 9-year-old term children from the Maternal Lifestyle Study (@DISEASE$).	false
+5b29afeb174b2fcc12974ac45774743a756da3a9	The clinical application of 4 single- (SLS) and 2 multi-locus (@DISEASE$), and 6 PCR (polymerase chain reaction) systems for zygosity determination in 12 twin pairs with @PHENOTYPICFEATURE$ was compared with regard to the quality and quantity of sample material required and the probability of error in monozygosity determination.	false
+d7aff75ace8cc215518b505bd3dc25aedfdf1fa9	Granular cell @PHENOTYPICFEATURE$ of the spinal cord in a patient with Rubenstein-@DISEASE$.	false
+103493e759c301b3bcde779c088771c963926810	A case of cervical spinal cord granular cell @PHENOTYPICFEATURE$ in a patient with Rubenstein-@DISEASE$ is described.	false
+8b877eb2c11ee69a7cf8840ce3a61a7f50a0e9a5	@PHENOTYPICFEATURE$, a frequent symptom in @DISEASE$, was not associated with roentgenographic abnormality.	false
+b964e089794b53a4dd33202cad1e1acdc287365b	@PHENOTYPICFEATURE$ and septicemia due to Pseudomonas cepacia in a patient with @DISEASE$.	false
+a6d76ffa802bc7fda99e0ed2a49880453e642dca	Additionally, three of the 932 had @PHENOTYPICFEATURE$ and three had @DISEASE$.	false
+4cd16e0958c0230ab0c7b0fad5e7dbd682f49f2a	Gastroesophageal reflux causing nutritional failure and @PHENOTYPICFEATURE$ in a teenager with @DISEASE$ and respiratory failure.	false
+8e3354894ea633786ee375748ab3737eb10b4fc0	Ultrasonography detects appendicular mucocele in @DISEASE$ patients suffering recurrent @PHENOTYPICFEATURE$.	false
+12bc9dabe2a221882d437e6b45e00f2f77585a09	In contrast, all three fetuses with @DISEASE$ and the fetus with jejunal-@PHENOTYPICFEATURE$ demonstrated microcolon as well as abnormal paucity or absence of rectal meconium.	false
+e6db48a07b3740f561954bccd22bb83a666b06f8	3-year-old boy with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+1594a039a70fa26019c637bb0d63eb8d57bcdd29	Lung transplant for a patient with @DISEASE$ and active Burkholderia Cenocepacia @PHENOTYPICFEATURE$.	false
+386cb125f0e2c725a9596a5351c34d73fd7dedbf	Abdominal pain, @PHENOTYPICFEATURE$, and obstipation often occur in children and young adults with @DISEASE$ (CF).	false
+ff6d37ae667806d80b34a84d758200d43277f0da	@PHENOTYPICFEATURE$, vomiting, and obstipation often occur in children and young adults with @DISEASE$ (CF).	false
+82f8824c132720029e8da4fc281db93b0dc10802	A seven-year-old boy with @DISEASE$ (CS) who presented with @PHENOTYPICFEATURE$ is reported.	false
+b6430250123d755a7fe7d247392ec27ffebcd8d2	@DISEASE$ (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, @PHENOTYPICFEATURE$, anosmia, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in plasma- and lipid-containing tissues.	false
+5ea45b8ed296792c32cd9c8fe5885665c4f10f8c	The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic @PHENOTYPICFEATURE$, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (@DISEASE$, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05).	false
+e9c7c1dfc3681862abb5cc0c51af2026fae2ec23	Examples of the first category include ataxia with isolated vitamin E deficiency, abetalipoproteinemia, @DISEASE$, infantile-onset spinocerebellar ataxia, and ataxia with @PHENOTYPICFEATURE$ and deafness.	false
+ed6de73de1aafbb60a54d3b307dc92eadd405fc2	In univariate analysis, younger age (45 years and younger), male sex, multigland disease, and @DISEASE$ were associated with positive germline @PHENOTYPICFEATURE$; biochemical cure after an initial parathyroidectomy was less frequent in patients with familial PHPT (96.2% vs 89.2%; p?= 0.005).	false
+4f930bda3c91f536a8d69eeec0febea3f9d4d380	In the absence of a @PHENOTYPICFEATURE$ mass, this pattern closely mimics @DISEASE$ (DIP) clinically, radiologically, and histologically.	false
+b8ade1afdfb81ca4c6078f05cedc6422c010fb7c	In this case, clubbing was most probably caused by the occult @PHENOTYPICFEATURE$ rather than by @DISEASE$.	false
+bbbd90f407373f938e05978922fca3298db6e9ba	Initial diagnoses by referring pathologists included reactive changes (1), hypersensitivity pneumonitis versus drug reaction (1), @DISEASE$ versus @PHENOTYPICFEATURE$ (1), and mesothelioma (2).	false
+63ff1782c951c4a6df7d4cd93b0a1eff06d9827d	Using one example from each of these clusters, body dysmorphic disorder (@DISEASE$), pathological gambling (PG) and @PHENOTYPICFEATURE$, respectively, the phenomenology, neurobiology and pharmacotherapy indicates that specific biological factors are shared by OCD and by these disorders and correlate with the severity of repetitive behaviours.	false
+258b688c70e55038b405b14b20d5d5a7db939436	The disorders that were originally examined included OCD, obsessive-compulsive personality disorder (OCPD), Tourette's syndrome (TS) and other tic disorders, Sydenham's chorea, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS), trichotillomania (TTM), body dysmorphic disorder (@DISEASE$), @PHENOTYPICFEATURE$, eating disorders, Huntington's and Parkinson's disease, impulse control disorders, as well as substance and behavioral addictions.	false
+6570af86520f57223993fa6265557249b809ac8f	This is the first study to report significant linkage results for @DISEASE$/BDE using a large extended pedigree, and the first to suggest that mutations in TWIST and/or the HOXA1-A13 cluster may contribute to these specific @PHENOTYPICFEATURE$.	false
+5a9e3223affe2d8c5a0423243a97cf455d006528	Infection with tissue-invasive helminth infections characteristically induces immunological responses associated with @DISEASE$ such as IgE elevations, tissue and peripheral blood @PHENOTYPICFEATURE$, and mast cell hyperplasia.	false
+6d3930a840bf3c5966e087d35673612f6240c382	Mutant fibrinogen A-alpha-chain associated with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+6f22e1e6be8007a7daa5238f60ca73b768b101ca	Although @PHENOTYPICFEATURE$ characteristics and staging affect prognosis, patient factors, such as gender, race, and socioeconomic status, are also important prognostic factors for @DISEASE$.	false
+472f332e3d4e66ce133f66f64b0a4e88d24efe12	Pretreatment SCCAg levels in patients with @DISEASE$ and margin were correlated with clinical @PHENOTYPICFEATURE$ classification and clinical lymph node status.	false
+e8abe307862a0a1f81dbfde874af8009b2736f54	Metabolic @PHENOTYPICFEATURE$ volume predicts disease progression and survival in patients with @DISEASE$.	false
+b0e4d08cf5668b2f51da9886141cc64b8776dab6	-w) and diffusion-weighted (DWI) MRI in @DISEASE$ (SCCA) and assess sequence impact on @PHENOTYPICFEATURE$ (T) staging.	false
+f81fac312dda9cefb5e443d153ae4eac31fb4990	@DISEASE$ serves as a paradigm for the successful application of multimodality treatment of solid @PHENOTYPICFEATURE$.	false
+5781b3a8af4cdd8170a23c0b44b57a846cd60c6d	The impact of MRI sequence on tumour staging and gross @PHENOTYPICFEATURE$ volume delineation in @DISEASE$.	false
+d4b7b13c3988a939d61bcb971513ca2925de21c0	The impact of MRI sequence on @PHENOTYPICFEATURE$ staging and gross tumour volume delineation in @DISEASE$.	false
+f7a7ba11ca20914924ff04d6ea6936c94a65fc2d	In February 2006, a 76-year-old woman underwent resection of a @PHENOTYPICFEATURE$ diagnosed as @DISEASE$.	false
+bd503c6a99e1f90798ed5429b4707517658283d6	In this study, we applied the sentinel node technique in patients with @DISEASE$ to determine whether this provided more reliable staging of @PHENOTYPICFEATURE$.	false
+4137bdbf8fa68c1182deaed36fbbcf4cf507340c	69-year-old woman underwent resection of a @PHENOTYPICFEATURE$ diagnosed as @DISEASE$.	false
+876350068bc09457c9abe490d15a620615b4ef76	@DISEASE$ is the most frequent @PHENOTYPICFEATURE$ found in the anal and perianal region.	false
+064dfa35aff7c83f67ebbefa03d0fbf503ee080c	Although phenotypes have been historically distinguished based on clinical features into short-rib @PHENOTYPICFEATURE$ syndrome, Jeune asphyxiating thoracic dystrophy, @DISEASE$, Sensenbrenner syndrome (cranioectodermal dysplasia), oral-facial-digital syndrome and Ellis-van Creveld syndrome, recent research suggests that there is significant genetic as well as phenotypic overlap between the conditions.	false
+d3e88ff59a3abf7dfc29607c6e00cbb34eba6e04	@DISEASE$ (MIM 258315) is a rare @PHENOTYPICFEATURE$ characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance.	false
+38a134ee0111949717670b05a6dceb1150c13e53	A case is presented of a prepubertal girl with the characteristic somatic features of @DISEASE$, including @PHENOTYPICFEATURE$, cataracts and shortening of all metacarpals and metatarsals and of the second middle hand phalanges, whose diagnosis of pseudopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluation (normocalcemia, normophosphatemia, normal levels of circulating PTH and normal response to exogenous PTH).	false
+326f8bcbd51ef7930436f8c72ba974e6cc56bb34	@PHENOTYPICFEATURE$ and cough in a man with @DISEASE$.	false
+b60dcfed4a60c698308ba420bf95edcf15b6acf4	To investigate the relationship between gastrointestinal dysfunction (GD) and multiple organ dysfunction syndrome (MODS) in acute severe mountain sickness (@DISEASE$), including high altitude @PHENOTYPICFEATURE$ (HAPE), and high altitude cerebral edema (HACE), by a retrospective study of medical records and prospective study of hospitalized patients.	false
+a8ff22876d7248bd44c38d4365a83e6db9122450	The present findings outline a new signaling cascade in the induction of PAF-induced @PHENOTYPICFEATURE$, in that stimulation of @DISEASE$ causes recruitment of TRPC6 channels to caveolae, thus allowing for Ca(2+) influx and subsequent increases in endothelial permeability that are amplified in the absence of endothelial NO synthesis.	false
+4f247aed3bd5c63af07c2e37210d102e9e74a542	@DISEASE$ 17D virus, a safe and effective live, attenuated vaccine, was used as a vector for genes encoding the protective antigenic determinants of a heterologous member of the genus Flavivirus, Japanese encephalitis (JE) virus, the leading cause of acute viral @PHENOTYPICFEATURE$ and death throughout Asia.	false
+7aa46a7428f6089fdea3518410c2affeeb623e79	A new association of @DISEASE$, @PHENOTYPICFEATURE$, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study.	false
+03064b7036e340c42796e84ef1c86292694ef4e8	A 19-year-old male with a ventriculoperitoneal shunt for @DISEASE$ presented with a 1-day history of headache and @PHENOTYPICFEATURE$-symptoms from which he suffered in many recurrent episodes over the past 5 years.	false
+aaa4c10ea373bb8e326c1c631d56184a227eebc5	We also noted @DISEASE$, oculocutaneous @PHENOTYPICFEATURE$, retinal coloboma, and megalocornea, which are not typical features of 9p monosomy.	false
+0aa83b4dfc98f8890b905527376a1ed17744da22	To our knowledge, the association of @DISEASE$, @PHENOTYPICFEATURE$, megalocornea, and retinal coloboma has not been described in the literature.	false
+5e51807e38b461e39792c97b753558cf056139e4	We report on a 16-year-old female patient with severe intellectual disability, @DISEASE$, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, @PHENOTYPICFEATURE$, dystrophy, and facial dysmorphic signs.	false
+2402cc3acb1cdda7a9360d9605bb37353ee24890	Laser capture microdissection was performed to isolate specific placental and renal cell populations and document selective enrichment of androgenetic cells in the stroma of @DISEASE$ and the epithelium of @PHENOTYPICFEATURE$.	false
+6b828d22146bc281f42d08f91806c935c0f83e8e	Anti-Ro antibodies are correlated with photosensitivity and cutaneous lesions in these patients and with neonatal lupus, a syndrome in which mothers with anti-Ro antibodies give birth to children with complete @DISEASE$ and @PHENOTYPICFEATURE$ lesions.	false
+021e34bf1cc500df8947b1f4df333252b8e5970a	Anti-Ro/SSA antibodies are associated with neonatal lupus (@DISEASE$ (CHB), neonatal transient @PHENOTYPICFEATURE$, hematological and hepatic abnormalities), but do not negatively affects other gestational outcomes, and the general outcome of these pregnancies is now good, when followed by experienced multidisciplinary teams.	false
+e732968202ff6a9688f7549a666599bde8f8f422	@PHENOTYPICFEATURE$ was absent after birth in 11 of 16 infants, with @DISEASE$ persistent in two infants, and supraventricular tachycardia, atrial premature beats, and blocked atrial premature beats remaining in one each.	false
+eff09834f80c57d0d004101b677d5c9b495f5db7	NLE should be suspected among neonates or young infants presenting with @DISEASE$ or @PHENOTYPICFEATURE$ with multi-system involvement despite a lack of concurrent maternal autoimmune diseases.	false
+cf3801a65b6e014957813c7edcabf7c2b94e5d07	This syndrome comprises the development of fetal heart disease (@DISEASE$) or neonatal @PHENOTYPICFEATURE$ and is specifically associated with maternal anti-Ro/SS-A autoantibodies.	false
+550bb4556be34b2b16484501e0c7cae10dd7d7aa	L-dopa reversal of muscular spasm, @PHENOTYPICFEATURE$ and insomnia in a patient with an atypical form of @DISEASE$.	false
+d7ec3610218836775a8f53afcbb87112d0d683f4	Herein, we report a Japanese boy who presented with @DISEASE$ with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-@PHENOTYPICFEATURE$.	false
+d17a8c4d5c51e8389502bf0db55caa72c1e38aa8	@PHENOTYPICFEATURE$ is the initial feature in Belgian compound heterozygote @DISEASE$ patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.	false
+ad5460279fec8577bcbc72ce93a838e7866cd371	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, @PHENOTYPICFEATURE$, and facial dysmorphology.	false
+908e1fef6b8239a42b5b3ec68b20b78c2f2ae259	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes, including @PHENOTYPICFEATURE$, cleft palate, and facial dysmorphology.	false
+e00c80ff1eda219dd253fb3d95a3f1d3ef2cd841	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, @PHENOTYPICFEATURE$ and facial dysmorphology among others.	false
+e9b00233d0fdda9957ca48f18e84e36073eb65d3	Dominant mutations in TFAP2A are associated with syndromic anophthalmia/@PHENOTYPICFEATURE$ and other ocular phenotypes as part of Branchio-Ocular-@DISEASE$ (BOFS).	false
+c4dafd168f9de08cc0decbfdd2293e4156e44c26	@PHENOTYPICFEATURE$ and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-@DISEASE$.	false
+e441c7a934e83a94783aa5ee66e71c9dad735710	Velo-cardio-@DISEASE$ (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and @PHENOTYPICFEATURE$.	false
+36d86982f850e94b83e598a2a681f8e70ec6b147	Velo-cardio-@DISEASE$ (VCFS) and DiGeorge syndrome are congenital disorders characterized by craniofacial anomalies, @PHENOTYPICFEATURE$, immune deficiencies, and learning disabilities.	false
+2d5669f86c8153a5ad41f5407e511f1ab37a2a91	The spectrum of abnormalities seen in this family are similar to those described in the branchio-oculo-@DISEASE$, a rare dominantly inherited syndrome in which there are a number of developmental @PHENOTYPICFEATURE$, face, and kidney.	false
+d08e8a7f95bd53807588bf787f13d1d527fcb114	Deletions of 22q11 have also been reported with patients with the velocardio-@DISEASE$ and familial @PHENOTYPICFEATURE$.	false
+56d956c5320428bc0ac2129d6b92555f5c79ad77	@PHENOTYPICFEATURE$ and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-@DISEASE$: We describe a 3-year-old girl with bilateral severe conductive hearing loss and multiple bilateral supra- and preauricular defects with unusual overlying thin skin.	false
+8c3d07db27f96b625301f700718fb3db5ee1fe87	Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-@DISEASE$: We describe a 3-year-old girl with bilateral severe @PHENOTYPICFEATURE$ and multiple bilateral supra- and preauricular defects with unusual overlying thin skin.	false
+d27e4b35bc5aa3cb8f4940e65bd3be302573cabf	Additional findings include structural brain @PHENOTYPICFEATURE$ defects, congenital heart defects, @DISEASE$ (HSCR), and genitourinary anomalies.	false
+87db9b21a3fa48470a201e689bd863cb3788433f	This disorder may be associated with other symptoms of neurocristopathy (@DISEASE$, neuroblastoma, neuroganglioma) and other abnormalities of the autonomic nervous system (vasomotor dysfunctions or ophthalmic abnormalities: abnormal pupils, insufficient convergence, strabismus, or @PHENOTYPICFEATURE$).	false
+e225bb5f00032ad9ac218ed4f177f72b8c5a4345	We describe a brother and sister with @DISEASE$, hypotonia, and @PHENOTYPICFEATURE$.	false
+b2980eaabba6f67ef26b4b311ca0b544b65ba902	Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with @DISEASE$, @PHENOTYPICFEATURE$, and similar minor dysmorphic features.	false
+a283d5e210a06879fe2e02c386a18bee9e9d223a	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, @PHENOTYPICFEATURE$, micrognathia, external ear anomalies, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+febb497808bae9075e4a0a2aac8bf332fb1c6df5	In humans it has been observed that infants prenatally exposed to hyperthermia presented with spina bifida, encephalocele, microphthalmia, micrognathia, external @PHENOTYPICFEATURE$, cardiac defects, hypospadias, gastrointestinal defects, cleft lip and/or cleft palate, abdominal wall defects, diaphragmatic hernia, @DISEASE$, M?bius syndrome, oromandibular-limb hypogenesis spectrum, and spontaneous abortions.	false
+25fe2f45d0c3bdf70d7f507ee2e2c5547c81b66b	Goldberg-Shprintzen syndrome: @DISEASE$, hypotonia, and @PHENOTYPICFEATURE$ in sibs.	false
+d990c68c8147d1c0346584d4b2342b1f8096d839	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent @DISEASE$, @PHENOTYPICFEATURE$, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+11924a2ca3d21c4058e865534c35ff75f61d0a65	A 3-month-old infant girl had manifestations of the Smith-Lemli-Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent @DISEASE$, cataracts, @PHENOTYPICFEATURE$, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels.	false
+4bdcb319833b568137cd1ae4e61678f274f4953b	The anomalies may include @DISEASE$, heart defects, structural eye anomalies including @PHENOTYPICFEATURE$, agenesis of the corpus callosum, and urogenital anomalies.	false
+ecea6fe91482928f1f78c296c552a9810320a812	Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, @PHENOTYPICFEATURE$, urogenital malformations and @DISEASE$ (HSCR).	false
+e5246ecedb47e5e7b5468b55250b3571d8d5cdd5	Inner @PHENOTYPICFEATURE$ in Waardenburg's syndrome associated with @DISEASE$.	false
+f6b7d08a006886553f3d8a3877640b505aa42d78	We examined changes in the relationship between penalty pressure and outcomes before versus after HRRP announcement among 2698 hospitals serving 6,936,393 Medicare @DISEASE$ patients admitted for target conditions: acute myocardial infarction, @PHENOTYPICFEATURE$, or pneumonia.	false
+6ab9b51e41e29642e3e1882f9b3bb51c74ee64a9	The Medicare-allowed amounts for the population with @PHENOTYPICFEATURE$ accounted for 34% of the total annual Medicare @DISEASE$ population-allowed amounts.	false
+b588dc7dea4c79d5b997b82ab715fbf4f63f0378	The 2012 Medicare @DISEASE$ population for this study consisted of 1,461,935 patients (1,301,545 without @PHENOTYPICFEATURE$; 160,390 with heart failure); the heart failure prevalence was 11%.	false
+b3ec014035a994ee28eaa8d29dbb8466833bee1d	The 2012 Medicare @DISEASE$ population for this study consisted of 1,461,935 patients (1,301,545 without heart failure; 160,390 with @PHENOTYPICFEATURE$); the heart failure prevalence was 11%.	false
+a2a2404af67e702c7c1aa08611f0b631b8eb22eb	The 2012 Medicare @DISEASE$ population for this study consisted of 1,461,935 patients (1,301,545 without heart failure; 160,390 with heart failure); the @PHENOTYPICFEATURE$ prevalence was 11%.	false
+65d3654f78c052fa846249ca36c9f79e913dbfa4	Risk-standardized mortality rates and risk-standardized readmission rates for @PHENOTYPICFEATURE$, acute myocardial infarction, and pneumonia from 2006 to 2008 were estimated among HRRs, along with several markers of @DISEASE$ population risk.	false
+69da4731c036a48443903b31de90b7c8637904a7	Fragile Families and Wellbeing Study (@DISEASE$) data were analyzed to examine the relationships between @PHENOTYPICFEATURE$, household instability, and area poverty in urban mothers and their children (N=1,449).	false
+21572be2eaaccf379046c98d5be0ed0d7ff0b3f7	Among patients with @PHENOTYPICFEATURE$, adjusted ORs of receiving ACE inhibitors, angiotensin-receptor blockers, and statins in the @DISEASE$ group were, respectively, 0.90, 0.78, and 0.79 (all p < 0.05).	false
+5df052934eb51418305a6fcd1c30cecb6aa10c24	To create a real-world view of utilization and costs associated with inpatient admissions, readmissions, and admissions to skilled nursing facilities among Medicare fee-for-service (@DISEASE$) beneficiaries with @PHENOTYPICFEATURE$.	false
+5d733d589484055646105bdd67fbdf5b509c1437	Utilization of inpatient admissions, inpatient readmissions, and skilled nursing facility admissions in 2012 were reported for Medicare FFS beneficiaries with @PHENOTYPICFEATURE$ and for all Medicare @DISEASE$ beneficiaries.	false
+07d6f7cbcf50f7f91f768e244ad4976f122cdae2	Medicare @DISEASE$ beneficiaries with @PHENOTYPICFEATURE$ have high inpatient admission and readmission rates and generate substantial costs.	false
+cadd66a4ee85875a0da1da0957cb54595c5f3528	Medicare fee-for-service (@DISEASE$) claims data were used to calculate the prevalence of medication nonadherence among individuals with diabetes, @PHENOTYPICFEATURE$, hypertension, and hyperlipidemia.	false
+9df27dc24847197d01a687b0f261cb9871b65027	The various @DISEASE$ are usually associated with moderate @PHENOTYPICFEATURE$ and no congenital joint contractures.	false
+2b214f3275fd16a64049de0613f73e35505b4783	Native American myopathy: @DISEASE$ with @PHENOTYPICFEATURE$, skeletal anomalies, and susceptibility to malignant hyperthermia.	false
+10189e2c961a99a686cdea60f02d41074c8e2c55	A sporadic case of @DISEASE$ had severe @PHENOTYPICFEATURE$ of neonatal onset.	false
+aaa1a491dc6ff452e0e44d7bd7a3c4488d7f4d59	X-linked myotubular myopathy (MTM1) is a severe @DISEASE$ characterized by hypotonia, @PHENOTYPICFEATURE$, and associated respiratory insufficiency.	false
+ad0b7f95573f5f3f827b56973ac5ed500d0f3411	Correlation of @PHENOTYPICFEATURE$ with upper extremity function and pain for spinal muscular atrophy and @DISEASE$ patients.	false
+ecaa63e8a5776ab3db9e5467cba12699e30d9ca6	@DISEASE$ with @PHENOTYPICFEATURE$ and increased susceptibility to malignant hyperthermia: King syndrome?	false
+84b06a932777718b026bfd0eb5d571871bb66ee3	@DISEASE$ describe a group of inherited muscle disorders with neonatal or infantile onset typically associated with @PHENOTYPICFEATURE$, respiratory involvement and delayed motor milestones.	false
+ce6bde2eb810089d29bdc35ed9d7830e62564cf1	@DISEASE$ are clinically and genetically heterogeneous disorders characterized by muscle structural abnormalities, @PHENOTYPICFEATURE$ and deformities.	false
+e324946cf5ede50b3c2c0def8833f21865538565	@DISEASE$ refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset @PHENOTYPICFEATURE$, hypotonia, and developmental delay.	false
+f4572c70d9455ebcb45910b2aa8c524265e506e7	Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+3c5c0f452a72d0595e1b01054b0bef9cbb404b8d	Pathogenic variants of ANKRD11 have been reported to cause @DISEASE$ characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and @PHENOTYPICFEATURE$.	false
+d271dbe3ef4261c2501cbae6de08e195b5fecb53	@DISEASE$ is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, @PHENOTYPICFEATURE$, and developmental delay.	false
+4230bd849ae692984bd3dd6eb7c9e7227c2355bc	@DISEASE$ is a rare disease characterized by intellectual disability, typical craniofacial dysmorphism, macrodontia of the upper central incisors, short stature, and @PHENOTYPICFEATURE$.	false
+b8712bc55b1b3e998c60e85a3f55612b3bbfcb12	@DISEASE$ comprises a distinct facial phenotype, macrodontia, short stature, and @PHENOTYPICFEATURE$.	false
+72ad5e5e9e4cd12329dba26013dddce349d06f4a	Cardinal features of @DISEASE$ include facial dysmorphism, short stature, @PHENOTYPICFEATURE$, and mild developmental delay; intraorally, macrodontia of the maxillary central incisors occurs in most cases.	false
+c2898b7d7772ee2c7b21b8f9bbe2263383f53538	Twins with @DISEASE$ and @PHENOTYPICFEATURE$.	false
+e2670e27a45a212d1dd6a4ccde4fa4769c29ed66	@DISEASE$, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and @PHENOTYPICFEATURE$.	false
+3bfbcf7806110c469ace67d2b9ec9526d2a23203	We report the sporadic case of a boy with clinical features of @DISEASE$, including slight mental retardation, characteristic facies, macrodontia, and @PHENOTYPICFEATURE$.	false
+b2fdc8b7ccb6583c72dcebf3cb2cbf359c3d2abf	Further Delineation of the KBG syndrome: We present a mother and her daughter with clinical features of @DISEASE$, including mild mental retardation, distinct facial features, macrodontia and @PHENOTYPICFEATURE$.	false
+f860a0ce982827e25b41b55f63e8cc4fd75b5d39	Further Delineation of the @DISEASE$: We present a mother and her daughter with clinical features of KBG syndrome, including mild mental retardation, distinct facial features, macrodontia and @PHENOTYPICFEATURE$.	false
+782e34563fc495546920e91eda50fb2f9d8c996f	@DISEASE$ is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and @PHENOTYPICFEATURE$.	false
+d3311c358627a94082a4bf6407665656c420de91	Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, @DISEASE$, and @PHENOTYPICFEATURE$.	false
+b07ff3f283c75897367d109a93cda6961e937044	@PHENOTYPICFEATURE$ caused by hereditary @DISEASE$ necrosis: a study of familial expansile osteolysis.	false
+fb4efde9248ac6afdae7e3953b585596f67cafa3	@PHENOTYPICFEATURE$ and @DISEASE$ syndrome.	false
+162c88a9c714c1ce00c1387ecffe327c4f0d3ca1	The C9orf72 hexanucleotide repeat expansion was the commonest abnormality, accounting for 4.6% of sporadic @DISEASE$ and 37.5% of FALS; in these patients, @PHENOTYPICFEATURE$ was prevalent.	false
+421b00f6e479a446b4b2c2878b2f89f588df426b	Surgical improvement of @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+54a9beca6765e80e2c8ab372d895ef27bb0241e6	Currently, however, there is no effective or established approach to improve @PHENOTYPICFEATURE$ caused by @DISEASE$.	false
+631736bdf20cd16290e5616dc5c933633a59060b	Finally, preliminary associations between @PHENOTYPICFEATURE$ severity and movement variability were moderate to strong in talkers with @DISEASE$.	false
+368b986c5a50ca69d5db46116df7877b939a837f	Neuronal ubiquitinated intranuclear inclusions in familial and non-familial @PHENOTYPICFEATURE$ of the motor neuron disease type associated with @DISEASE$.	false
+00fba21d12980eb3cb9bfd9d9b270c1a463c6e33	In 25% of @DISEASE$ sufferers, @PHENOTYPICFEATURE$ occur as prodromal symptoms of the disease.	false
+5343dd88f6da1b61ddd3b88c4b5b853d0165d719	@DISEASE$ (ALS) is a rapidly progressive neurological disease that affects the speech motor functions, resulting in dysarthria, a motor @PHENOTYPICFEATURE$.	false
+c2e47fef1064aec12bf5a80413b70f6e08a4acfe	Amyotrophic lateral sclerosis (@DISEASE$) is a rapidly progressive neurological disease that affects the speech motor functions, resulting in dysarthria, a motor @PHENOTYPICFEATURE$.	false
+5edc15023f831fbc71403119296d8d07b07156eb	Several TREM2 mutations have been identified recently that increase the risk of Alzheimer's disease, @PHENOTYPICFEATURE$, Parkinson's disease, and @DISEASE$.	false
+b7f585653f1e9110f08fb64477cab8796722a205	Utility, usability and acceptability of robotic arm for helping motor impairment people (quadriplegic, @PHENOTYPICFEATURE$, @DISEASE$) must be improved.	false
+a935e5cee568554640e457b6795315997b3e6c96	@DISEASE$ is a rare disorder of bone remodeling, which is characterized by @PHENOTYPICFEATURE$ or sclerosis of the skull combined with metaphyseal flaring of the long tubular bones.	false
+2986f1074a6f3692ae6f44009c0d958641e3e712	@DISEASE$ (CMD) is a genetic craniotubular bone disorder characterized by early progressive @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones.	false
+50664d9d45a5b028fb5275bf4cd25b412f173670	@DISEASE$ (CMD) is an osteochondrodysplasia of unknown etiology characterized by @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.	false
+950b7706ec749765106fdab41198be6ecff9dbb8	@DISEASE$ (CMD) is a rare genetic disorder of bone modelling characterised by @PHENOTYPICFEATURE$ and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses.	false
+80da9f667c5bb59266f736d27bb6bc7ce6ef018d	@DISEASE$ is a rare genetic bone remodeling disorder characterized by undertubulation of the long bones, especially in the lower extremities, causing deformities of the metaphyses of the long bones, and sclerosis of the skull base or cranial bone @PHENOTYPICFEATURE$.	false
+9a635242a0417048560d278ed5f3a76618f2dd85	@DISEASE$ (CMD) is a sclerosing osseous dysplasia characterised by @PHENOTYPICFEATURE$ of craniofacial and long bones, resulting in distortion and cranial nerve palsies.	false
+d2a9ce0eb395e969c28cee6b0f8aaac66d719633	@DISEASE$ (CMD) is a rare hereditary disorder characterized by @PHENOTYPICFEATURE$ of the craniofacial bones and flared metaphyses of the long bones.	false
+c617830c2c944d39f5f610e95ae86e3717793033	This case report illustrates an ambulatory child with @DISEASE$ and progressive @PHENOTYPICFEATURE$.	false
+f361b6d13d4745d1fb5a66dc1f836ba70e51d24d	Since @PHENOTYPICFEATURE$/ischemia, subependymal hemorrhage, CNS infection, developmental defect of the mantle layer, chromosomal disorder, @DISEASE$, carbon monoxide intoxication, trauma, or mitochondriopathy were not causative, the etiology of PVPC remained questionable.	false
+e8a143b7a2242534cb6b921468bb1d7fcafcba63	@DISEASE$: an older child with progressive @PHENOTYPICFEATURE$.	false
+93c3fff4b74aeff12083c1ffb8e7a5231d103ab5	Rubinstein-Taybi syndrome (@DISEASE$) is a rare multiple congenital anomaly/@PHENOTYPICFEATURE$ syndrome.	false
+e9c581b33b9ee2604efb3faaf578dde51aecfe6b	Rubinstein-Taybi syndrome (@DISEASE$) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of @PHENOTYPICFEATURE$.	false
+f489463657a6f89d2335af32dc398a131e06e79d	A pathological examination revealed that the skin @PHENOTYPICFEATURE$ was a metastasis of @DISEASE$.	false
+e2a7d0347a56833e52d3d8e34bcc092fd26c93a6	@DISEASE$ in a pregnant woman presenting with low back pain and bilateral @PHENOTYPICFEATURE$ breast hypertrophy mimicking primary inflammatory breast carcinoma.	false
+eba1f406de6b8b6dc9df7f47d9de6c70f685425b	The relationship between @PHENOTYPICFEATURE$ and efficacy in second-line chemotherapy for unresectable advanced @DISEASE$: a prospective observational multicenter study protocol (IVY).	false
+0e8fd8ed78e2c17571ac753b4198ba33ce45b18b	The major non-hematological toxicities were asthenia and @PHENOTYPICFEATURE$, but most of patients showed grade 1 or 2. In conclusion, combination chemotherapy with paclitaxel, cisplatin, and 5-FU is a promising regimen, and was well tolerated in patients with advanced @DISEASE$.	false
+566d0c5744c3dfc29433f2eda970f676542059da	An 80-year-old man who had undergone total gastrectomy and splenectomy for @DISEASE$ 13 years ago presented with headache, @PHENOTYPICFEATURE$, and high fever 1 month after a traffic accident.	false
+0bb761ef0c1a4c2ff24dd8831c9de14b18670a4e	We report a 75-year-old female @DISEASE$ patient with paclitaxel-induced @PHENOTYPICFEATURE$, which was successfully treated by the H2-blocker, lafutidine.	false
+f24a76e6db04eedba0dedf307adf19eb60b3d494	The predictors of surveillance intent for @DISEASE$ were absence of alcoholism, @PHENOTYPICFEATURE$, ascites, diabetes and high AST levels.	false
+7c9be379f8e03685b1a5f47d1e657dd6b4ade39e	The hyperinsulinemia was not associated with @DISEASE$. 7. We conclude that in patients with fluctuant hearing loss there is a significantly higher incidence of borderline or diabetic glucose tolerance than in the "control @PHENOTYPICFEATURE$" or "normal population" group.	false
+aeaaf0b591b9ab9af235709b3358396e1cedb0e8	@DISEASE$ in @PHENOTYPICFEATURE$ and in type 2 diabetes and its relation to cardiovascular disease.	false
+0675ab4e9bdbc5855e23b6404ff78e18bc7443e5	@DISEASE$ is associated with @PHENOTYPICFEATURE$ and type 2 diabetes.	false
+5023114bc29e45148a40283c5b97ef160f931862	Increased secretory demand from @PHENOTYPICFEATURE$-associated insulin resistance cannot explain elevated intact proinsulin and disproportionate @DISEASE$ in type 2 diabetes.	false
+ed0a9eb3e7847702cf5d360afb503583da34918a	Obesity itself or @PHENOTYPICFEATURE$-related IR may independently impose ?-cell overload on prepubertal children with NGT, leading to @DISEASE$ without causing failure to convert proinsulin to insulin when some degree of IR and metabolic derangement appears.	false
+af1d2bb0600a92ff7f8832093128a6900b0e6f73	@DISEASE$ in a short girl with hemihypotrophy and @PHENOTYPICFEATURE$.	false
+7b6158c702716a80b41024cafd01ff583f621f74	A patient with bilateral involvement of the kidneys with diffuse @DISEASE$ associated with @PHENOTYPICFEATURE$ is presented.	false
+7618a60a0aeafab4c35d7f9232e70d75b756ab84	A case is reported of Fanconi syndrome and nonliquric @PHENOTYPICFEATURE$, following a brief course of cephalothin and gentamicin, in a patient with diffuse @DISEASE$.	false
+24d2e2dc56dda449657ab18384d813845939423b	They have been implicated in diverse potential therapeutic applications such as sleep-wake disorders, @DISEASE$ hyperactivity disorder, epilepsy, @PHENOTYPICFEATURE$ and obesity.	false
+f5688c2da2b9ff93489505747e2e59836832f07b	sleep-wake disorders, @DISEASE$ hyperactivity disorder, epilepsy, @PHENOTYPICFEATURE$, schizophrenia, obesity and neuropathic pain.	false
+2c3fadcf5a50b2f6afc0c66c9e03d5632995fcc6	Indications for combined liver-heart transplantation include @PHENOTYPICFEATURE$ with associated cardiac @DISEASE$ amyloidosis, familial hypercholesterolemia and hemochromatosis, and homozygous ?-thalassemia.	false
+6bb18d7c311bb4f788d481caf298da2b5c898c55	Prevalence of @PHENOTYPICFEATURE$ and diabetes in patients with @DISEASE$: a case-control study.	false
+c470d41ba21c6259e5514b0fe8617f197edf1823	Her medical history included @DISEASE$, @PHENOTYPICFEATURE$, chronic obstructive pulmonary disease, and hypertension.	false
+6ec9348dba93ba87c170537865fe4359b2e1e149	Multivariate analysis identified diabetes, juvenile @PHENOTYPICFEATURE$ and spontaneous bacterial peritonitis as independent factors associated with ascites due to @DISEASE$.	false
+6e610ec5c9712f35aab405e969a1f5da1c4a70f2	The prevalence of @PHENOTYPICFEATURE$, diabetes and spontaneous bacterial peritonitis was significantly higher in patients with @DISEASE$.	false
+8bde959fa34064ff789c7395608418cff5bf85ac	NAFLD is often associated with @PHENOTYPICFEATURE$, metabolic syndrome and insulin resistance and its more aggressive form, nonalcoholic steatohepatitis (NASH) is a major cause of @DISEASE$.	false
+47689e59142506008f2003d649725c5759d9f761	Survival, liver failure, and hepatocellular carcinoma in @PHENOTYPICFEATURE$-related @DISEASE$.	false
+541badc7e0bcae97bda3d00ac47cff8208f8f31e	Recent studies have demonstrated that @PHENOTYPICFEATURE$ is the common feature of @DISEASE$ (CC) and non-alcoholic steatohepatitis.	false
+cc6ac5d0771591d98c3a7319530dc1e2bbe229e7	Both cirrhosis (@DISEASE$) and hepatocellular carcinoma are also associated with @PHENOTYPICFEATURE$ in the general population.	false
+986b2fb51e63ce35276817c0d39dde6ccff7db17	@DISEASE$ in the region where @PHENOTYPICFEATURE$ is not prevalent.	false
+c4a830d6906019809ac5839cf94b42ef9eb81272	An adult female with congenital Rubinstein-Taybi syndrome (@DISEASE$) and @PHENOTYPICFEATURE$ is described, who presented with symptoms of severe over-activity, short attention span, mood lability, and aggressive outbursts in a cyclical pattern, suggestive of recurrent manic-like episodes.	false
+f776f95d463274d788430aaeb1fef31717a7f4f7	Mutation in DNA repair genes may results in rare genetic disorders, including Xeroderma pigmentosum, Cockayne syndrom, trichothiodystrophy, Nijmegen syndrome, @PHENOTYPICFEATURE$ teleangiectasia, Werner syndrome, Bloom syndrome, @DISEASE$.	false
+72abdf4ee0f0fdac542db1076315a56d9e3eca41	Alternatively, unilateral epilepsy may alter intrahemispheric connectivity and right anterior temporal lobe @PHENOTYPICFEATURE$ (@DISEASE$) may have increased these artists' right hemisphere mediated visual artistic creativity.	false
+d5ff85334fe597d1e50ca617cb7952d7a0244f92	Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, Werner syndrome, @DISEASE$, Cockayne syndrome, @PHENOTYPICFEATURE$ teleangiectasia, and Down syndrome) illustrate that among the most important biological processes involved in skin aging are alterations in DNA repair and stability, mitochondrial function, cell cycle and apoptosis, ubiquitin-induced proteolysis, and cellular metabolism.	false
+2ce23c67ae9307efd466e357f30f7f1bb234c7a4	The first patient is a 5-year-old girl with @DISEASE$, photosensitivity, plantar punctate keratoderma, stunted growth and @PHENOTYPICFEATURE$.	false
+ac0a1ca2816b25a3195b237557aac549e9c91ced	Whereas these results fail to support the left temporal lobe disinhibition postulate of enhanced figural creativity, the finding that the patients with @DISEASE$ had better figural than verbal creativity suggests that their recurrent right hemispheric @PHENOTYPICFEATURE$ lead to changes in their right hemispheric networks that facilitated visual creativity.	false
+6bcf7280d609290c1110c88d64ae55a30aeffdeb	@DISEASE$ (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and @PHENOTYPICFEATURE$.	false
+1decadd45cb83d70dba658ab27cd83b2fbaca8b7	However, several hyperferritinemic conditions are not related to iron overload, but may imply severe disorders (inflammations, @PHENOTYPICFEATURE$) or a deregulation of ferritin synthesis (hereditary hyperferritinemia-cataract syndrome), and iron overload secondary to @DISEASE$, and the recently described dysmetabolic-associated liver iron overload syndrome, are characterized by low or normal transferrin saturation levels.	false
+f1232916d94454186ffc241baadd7ee8703b152f	Thus, this boy combined the @PHENOTYPICFEATURE$-macrocephaly phenotype of Greig cephalosyndactyly syndrome with a severe form of @DISEASE$ caused by the structural defect in type II collagen.	false
+3b6b2c2d479290919d89306fe2318268ba6f6abf	We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of @DISEASE$, craniosynostosis, cataracts, cleft palate, and @PHENOTYPICFEATURE$.	false
+de3bf82d89e1b1d0d41e6ac307e5a46bfd4a06a9	The patients have coarse facies, @PHENOTYPICFEATURE$, @DISEASE$, deficiency of a-L-fucosidase, and red punctate lesions of the skin and oral mucosa.	false
+7150b5256f8e451d03ef29df4b0a76c371727188	Previously undescribed @DISEASE$ associated with craniosynostosis, cataracts, cleft palate, and @PHENOTYPICFEATURE$: report of four sibs.	false
+f7e8573d767250be61bb27bdaaa40feaa782f991	A total of 75 hips (73 patients) were treated with Tripolar liners due to recurrent instability with abductor deficiency, In addition, six patients had associated cerebral palsy, four had poliomyelitis, two had multiple sclerosis, two had @PHENOTYPICFEATURE$, two had @DISEASE$, one had previous reversal of an arthrodesis, and 21 had proximal femoral replacements.	false
+50f7f4296a523849cc2e873f38cac47c2fe930a2	This appears to be the first @DISEASE$ patient with extracranial @PHENOTYPICFEATURE$.	false
+0aec45e2c62d34801c63007de18f3ef1bd5e9850	Although there is no solid evidence that AID causes human @PHENOTYPICFEATURE$, AID-transgenic and @DISEASE$ mouse models indicate that AID is both sufficient and required for tumorigenesis.	false
+16f602c9ebf119eed4e5749ac611c3654df073da	Almost all lymphomas that developed in @DISEASE$ transgenic mice were pre-B cell lymphomas, whereas control transgenic mice had predominantly B cell lymphomas, indicating that AID is required for development of B but not pre-B cell lymphomas from cmyc overexpressing @PHENOTYPICFEATURE$ progenitors.	false
+209244564291d9d8e872dbddb68ab2fc64a7f3f8	A 52 year old patient with immunosuppressive therapy for @DISEASE$-negative vasculitis presented with @PHENOTYPICFEATURE$ and paraparesis of the legs, laboratory findings displayed high inflammatory markers.	false
+42f91226db6a3ade0e3daaeca4b09432b44aa3c9	Hajdu-Cheney syndrome (@DISEASE$) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-@PHENOTYPICFEATURE$, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis.	false
+6556ee2729c66631a9c72385bf9da7d0baa00c5e	A 22-year-old female presented with the characteristic clinical features of @DISEASE$, including short stature, @PHENOTYPICFEATURE$, prominent epicanthal folds, thin lips, small mouth, and short hands.	false
+f320b6a6023aa923287da989821a342b8893ff9c	@PHENOTYPICFEATURE$ with @DISEASE$ in a mother with serologic immunity.	false
+a1543b760fdb12d39e3ebabe6aea9bbc26557b89	@PHENOTYPICFEATURE$ in the @DISEASE$.	false
+a0b5dd88392e6e4002276b188b70fe1e80b05164	Systemic malformations were present in four patients and included two cases of @PHENOTYPICFEATURE$, one of polycystic kidneys and one of @DISEASE$.	false
+527600f5552d6a79914a97c51082ad016407ba09	@PHENOTYPICFEATURE$ are common findings in patients with @DISEASE$.	false
+d1eda5f1dcffe3d57d89089af6742c1b753a1d76	@DISEASE$ involves complete macroscopic @PHENOTYPICFEATURE$ removal and hyperthermic intraperitoneal chemotherapy (HIPEC).	false
+42803a37e4d09b5cb965fd88cd45a5669b213564	Both heart and @PHENOTYPICFEATURE$ are characterized by increased systemic oxidative stress in @DISEASE$.	false
+4043f1ac079ac0b129083afc6c3682b8f6ba35cf	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and @PHENOTYPICFEATURE$) and @DISEASE$ (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and cerebral calcifications), respectively.	false
+959812e0793a8c1767144f6a9a80552f0555d6d5	The infants were born with typical symptoms of multisystem disease, known as symptomatic congenital cytomegalovirus infection (jaundice, petechiae, hepatosplenomegaly, intrauterine growth retardation, microcephaly and cerebral calcifications) and @DISEASE$ (intrauterine growth retardation, congenital heart disease, cataract, hepatosplenomegaly and @PHENOTYPICFEATURE$), respectively.	false
+21581d5b204aaeb3c54ca0342fd2cd16401260a6	We studied a 9-month old child with @DISEASE$ who presented interruption of the SC at the L2-L3 level, sacral agenesis, a lack of innervation of the inferior limbs (flaccid paraplegia), and @PHENOTYPICFEATURE$ and bowel.	false
+856bf3f1409b594a91c0c421f20951c3bf2415a1	Simultaneous management of heart and @PHENOTYPICFEATURE$ in @DISEASE$ is quite challenging; the therapeutic choice made for one organ must not jeopardize the other.	false
+f9fec9d142c45798ef722b26f2ae9608c4dbc26d	The underlying physiology of @DISEASE$ is not well understood, creating a significant challenge for clinicians when treating heart failure patients with @PHENOTYPICFEATURE$.	false
+8abf4060eb3ebdf7eb7184624ca8baf18a9983ee	MtDNA base substitution and rearrangement mutations generally inactivate one or more tRNA or rRNA genes and can cause myopathy, cardiomyopathy, cataracts, @PHENOTYPICFEATURE$, diabetes, etc. nDNA mutations can cause Leigh syndrome, cardiomyopathy, and nephropathy, due to defects in oxidative phosphorylation (OXPHOS) enzyme complexes; cartilage-hair hypoplasia (CHH) and @DISEASE$, through defects in mitochondrial nucleic acid metabolism; and ophthalmoplegia with multiple mtDNA deletions, caused by adenine nucleotide translocator-1 (ANT1) mutations.	false
+a8d07383d6dde986d0cf963a5e143116aefbb750	The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "@PHENOTYPICFEATURE$ with linear skin defects" (@DISEASE$).	false
+7320aca263e4843cfd36781e5ea59738f6b96b4c	Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$) syndrome.	false
+c4ade1b5e3d3eadb0681f7dd45d77618e38eb228	Female infant with oncocytic cardiomyopathy and @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$): a clue to the pathogenesis of oncocytic cardiomyopathy?	false
+d95e7b17cc32afb3c7a41c2cefd61b2bf060a5f1	A large X-chromosomal deletion is associated with @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$) and amelogenesis imperfecta (XAI).	false
+9ffef2ae4de846e8d37f9939840383b48361bc55	Molecular characterisation of a new case of      @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$).	false
+1c4efb0fdfe109b73b6c5b41b33f7b9045bfb67a	Ocular complications caused by anterior segment abnormalities commonly cause @PHENOTYPICFEATURE$ in @DISEASE$.	false
+df0e3a2bf2d30ba8df1b0a0977ef6b7841449ec3	We report on a second 46,XX male with @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$) syndrome.	false
+391d1b87c9f711de9ba9e8cf48111c8b95e8686a	[COX7B mutations in MIDAS syndrome or @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$)].	false
+b5631cc27c2fdc2fecf90ebf0392a8b95f696d2d	MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, @DISEASE$ (@PHENOTYPICFEATURE$ and linear skin defects) and Gazali-Temple syndrome.	false
+945848c934ea10ab0ad8344b3b4d959f364267ce	MIDAS (@PHENOTYPICFEATURE$, dermal aplasia and sclerocornea) syndrome, @DISEASE$ (microphthalmia and linear skin defects) and Gazali-Temple syndrome.	false
+318d068e5188273688bb959d4fbf5b020dad977a	Dermatoscopic aspects of the @PHENOTYPICFEATURE$ with linear skin defects (@DISEASE$) syndrome.	false
+11850e4755d5fbcaaca9c9f6c81fc23a9bf777c2	Propylthiouracil (PTU) can be associated to @DISEASE$ positive @PHENOTYPICFEATURE$, most often related to myeloperoxidase subtype (ANCA-MPO).	false
+bc8502a31ee14a8135ae0634cd7e3031fb0b0ea6	Liver involvement due to hyperthyroidism and also @DISEASE$ positive vasculitis related @PHENOTYPICFEATURE$ cases were reported separately several times before.	false
+3076e58ef3ee380726c9d13ca2dc9ccc2a0423a3	We present a patient with antibodies to a neutrophil cytoplasmic antigen-associated (@DISEASE$) vasculitis with @PHENOTYPICFEATURE$ who developed aortic incompetence as a result of aortitis which involved the aortic valve.	false
+aac97a772f8d1869efa3129e5e26617609196739	A literature review of the renal findings in patients with @DISEASE$ identified another patient with possible polycystic kidneys, two patients with early onset @PHENOTYPICFEATURE$, and a young patient with a ruptured intracranial aneurysm, which can be a feature of classic adult polycystic kidney disease.	false
+e8f68ae63f16bb0e4323002730f0a88693dffc6d	@DISEASE$: @PHENOTYPICFEATURE$ in siblings.	false
+fea7fec4f4ffbbba877543e7127b8715a5fb9cd5	@PHENOTYPICFEATURE$ and cystic encephalomalacia were observed with neuroradiologic imaging and were noted in all 3 postmortem reports of @DISEASE$.	false
+d27677f3ea9e56dbaf18ceffa8a3c25548e6d40e	Lipoprotein disorders include abetalipoproteinemia, @DISEASE$, chylomicron retention disease, and familial combined @PHENOTYPICFEATURE$.	false
+3a51935f5f034464d8c0a5e16fc9e60454752a35	Lipoprotein disorders include @DISEASE$, familial hypobetalipoproteinemia, chylomicron retention disease, and familial combined @PHENOTYPICFEATURE$.	false
+e5498f6629b529a9c8d5968d21d96d1d3a19e0b6	@DISEASE$ (FA), an autosomal recessive chromosomal instability syndrome, is characterized clinically by developmental @PHENOTYPICFEATURE$ retardation, progressive bone marrow failure, pancytopenia, and pronounced cancer predisposition.	false
+eae6dab2f39ef3f9072224d80d9082eec1aadf53	The embryological basis of @PHENOTYPICFEATURE$ in @DISEASE$ patients is thought to be based on the complex interactions between the apical ectodermal ridge (where Fanconi anemia genes are expressed) and both the mesoderm (where Spalt-like 4 (SALL4) and Sonic hedgehog (SHH) are located and which are responsible for radial ray deficiency, thumb polydactyly, and triphalangism) and the dorsoventral axis (an error in that axis leads to dorsal dimelia).	false
+9ebe0a7524921dfcbee7340451447aaa972ca518	The embryological basis of @PHENOTYPICFEATURE$ in Fanconi anemia patients is thought to be based on the complex interactions between the apical ectodermal ridge (where @DISEASE$ genes are expressed) and both the mesoderm (where Spalt-like 4 (SALL4) and Sonic hedgehog (SHH) are located and which are responsible for radial ray deficiency, thumb polydactyly, and triphalangism) and the dorsoventral axis (an error in that axis leads to dorsal dimelia).	false
+71d9240f04f5c98dfb729e80aae33d7878f6da17	Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, @DISEASE$, and thrombocytopenia-absent-radius syndrome, not commonly associated with @PHENOTYPICFEATURE$.	false
+576cb4d21384818eda6e72093d7e6384ed8832e0	Twenty-five patients had thrombocytopenia absent radius syndrome; 22 patients had vertebral, anal, cardiac, tracheoesophageal, renal, and @PHENOTYPICFEATURE$ association; 7 patients had Holt-Oram syndrome; and 1 patient had @DISEASE$.	false
+5c510e9b0ab2069ee30b5b38626c4602936f59e8	He had @PHENOTYPICFEATURE$, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of @DISEASE$ (FA).	false
+c9f00f41ca3d45a0be436f445e383d3b21ed9103	We describe a case of @PHENOTYPICFEATURE$ occurred during a bleomycin monotherapy for @DISEASE$.	false
+bbe3ce648788e9a628973ba963432ea560231369	Among noninfectious causes (n = 18), hypoalbuminemia was the cause in 11 patients (19%), @PHENOTYPICFEATURE$ in 3 (5%), and atelectasis, @DISEASE$, uremic pleurisy, and adult respiratory distress syndrome in 1 (2%) each.	false
+2ea2418d2ba1de78fc975d898a5f867adce9b869	Captopril, an angiotensin-converting enzyme inhibitor, used for treating hypertension and @PHENOTYPICFEATURE$, inhibits angiogenesis in the corneas of rats in response to basic fibroblast growth factor, slows the growth of experimental tumors in rats, and leads to the regression of @DISEASE$.	false
+f89734b647d05c2ce2f9b136cf48481fc810b30d	[@PHENOTYPICFEATURE$ and @DISEASE$].	false
+ee5422df28c62a62c0d4b5a443530cadc3176062	Only five patients had concurrent candidal @PHENOTYPICFEATURE$, and three had @DISEASE$.	false
+a797607e04823f052785963875e21180963527c9	This fact seems to justify echocardiographic surveillance in HIV-infected patients, especially in those with @PHENOTYPICFEATURE$, @DISEASE$, TB, or other pulmonary infections.	false
+841240d06c6ceb3d2a263c7fc235530c9bd6d0c3	@PHENOTYPICFEATURE$ and airway obstruction are rarely caused by @DISEASE$ (KS).	false
+3385726354114c826cc296e62c1857556a0c7ab3	Pseudo-@DISEASE$ with a possible relationship to @PHENOTYPICFEATURE$.	false
+4225fa159495e6f4031da30f016e64d47fab97bc	We previously reported loss of heterozygosity (LOH) at region q13 of chromosome 11 in five aldosterone-producing @PHENOTYPICFEATURE$ (APT) using restriction fragment length polymorphism (RFLP) analysis, including two from patients with @DISEASE$.	false
+e0771bd3103e082b23f397ef57dc9d630cbad522	This leads to either abnormally regulated, increased biosynthesis (@DISEASE$ Type I, FHI) or to unrestrained hyperplasia and @PHENOTYPICFEATURE$, usually benign.	false
+7be8731740b671ec7519deb6944d2e4460847dfb	Such conditions, include cystic fibrosis, HIV/AIDS, @PHENOTYPICFEATURE$, Alstrom syndrome, hypophosphatasia, Prader-Willi syndrome, Tricho-dento-osseous syndrome, @DISEASE$, familial steroid dehydrogenase deficiency and epidermolysis bullosa.	false
+4a106bfe408808c30e97b252900c4acb5459dea8	not only allowed the identification of genes involved in the alpha-thalassemia and in the vulnerability to bipolar disorders, but also the identification of genes implicated in @DISEASE$, in polycystic kidney disease, in @PHENOTYPICFEATURE$ with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of autism and mental retardation.	false
+ebcbec89201b1b02b088064363ed7f57257a2006	We evaluated two patients with @DISEASE$ (TS) and @PHENOTYPICFEATURE$.	false
+981d362b8611a5370f73c305c8879e82bb786a00	In the postnatal period, @DISEASE$ was found in one patient, Down syndrome in one, and @PHENOTYPICFEATURE$ foot deformity in one.	false
+cd3f8160ced5205932a4383d670b7fc59cac8bc8	In the postnatal period, @DISEASE$ was found in one patient, Down syndrome in one, and equinovarus @PHENOTYPICFEATURE$ in one.	false
+7d824396ca6d9fabffbc2967d69d26d217113c13	We present a case of profound @PHENOTYPICFEATURE$ in a 17-year-old male with @DISEASE$.	false
+93062ea11db198ad700bfb068448664a3a9641b4	Numerous clinical descriptions and some familial studies on linkage suggested a possible relationship between @DISEASE$, polycystic kidney disease, @PHENOTYPICFEATURE$ with microophtalmia, ATR-16 syndrome, asthma, epilepsy, certain forms of autism, mental retardation and bipolar disorder, given the closeness of these vulnerability genes on the short arm of the chromosome 16.	false
+8ad4502289a995f9da06be47e095f19c3011551b	Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, @PHENOTYPICFEATURE$/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, @DISEASE$),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura).	false
+6bf4f9998b41c4bf364f1c50ac1f62e95c959574	Bilateral @PHENOTYPICFEATURE$ in @DISEASE$.	false
+3e7e0f1759048aca61522b0e8251bc439ca5f76d	A rare case of @PHENOTYPICFEATURE$ due to serous detachment associated with retinal "mulberry" hamartoma in a case of @DISEASE$.	false
+f95eec696ab0086d7fa24f08b87a1c3483c99cc2	[@DISEASE$ in a premature infant with hydrocephalus externus, obesity, osteopathia generalisata, @PHENOTYPICFEATURE$, dysproteinemia and hypertension with arteriosclerosis and fatal heart rupture].	false
+c5122fdc7acf7cd1b8f82562f74c98973a5c28cb	Calpain activation has been implicated in various aging phenomena and diseases of late life, including @PHENOTYPICFEATURE$ formation, erythrocyte senescence, @DISEASE$, hypertension, arthritis, and neurodegenerative disorders.	false
+3e81c33862d30e1498c36b3bb123fd030d24cea2	We found lower mutation loads (between 8 and 35% in blood) in adult patients with clinical features including migraine with aura, Leber hereditary optic neuropathy, @PHENOTYPICFEATURE$ and @DISEASE$. Despite homoplasmic mutation loads, complex I catalytic activity was only moderately decreased in muscle tissue.	false
+c6dcf81644a2fd94d5f657a6561129568f6db2cd	A 67 year-old woman with @DISEASE$ no medical background of interest was attended in hospital due to @PHENOTYPICFEATURE$ of left eye of 4 months of onset.	false
+56b7bc39a977b40566011802965cbc96e19e1fed	There were smaller elevated risks of peptic ulcer, affective disorders, and @PHENOTYPICFEATURE$ at higher doses, and marginally increased risks of herpes zoster, cardiovascular events, @DISEASE$, and bone related conditions, compared with non-use of prednisolone.	false
+a010c41f7e6bab4598909564a43b45c383f5424a	Using data from the UK-based Clinical Practice Research Datalink, we conducted a series of cohort studies to quantify incidence rates and incidence rate ratios, and a series of nested case-control analyses to estimate crude and adjusted odds ratios, of 11 different potential corticosteroid-related adverse events (bone-related conditions, hypertension, peptic ulcer, severe infections, herpes zoster, @DISEASE$, @PHENOTYPICFEATURE$, glaucoma, chronic kidney disease, affective disorders, and cardiovascular events).	false
+ddbe5b76e0828149406fd544132c536c494cd40c	Infrared laser therapy (300 Hz) combined with balneotherapy and patients' education is more effective than standard sanatorium rehabilitation in patients with ischemic heart disease associated with @DISEASE$. 81.8% patients showed good response manifesting in less frequent anginal attacks, episodes of @PHENOTYPICFEATURE$ and painless ischemia and lower doses of antianginal drugs.	false
+763f1f14d3043384dd8070b98552f98090cd8bd2	Case-control study; 29 patients (12 women, mean age 57.86 yo) with @DISEASE$ and 31 age-gender-matched controls were evaluated with a standardized protocol for general characteristics, orofacial @PHENOTYPICFEATURE$, research diagnostic criteria for temporomandibular disorders, visual analogue scale and McGill Pain questionnaire, and a systematic protocol of quantitative sensory testing for bilateral facial sensitivity at the areas innervated by the trigeminal branches, which included the thermal detection by ThermoSensi 2, tactile evaluation with vonFrey filaments, and superficial pain thresholds with a superficial algometer (Micromar).	false
+d36d161ffedb34724608ab33317365a5d8afcfa7	This nationwide study of the epidemiology of hospital admissions for a principal diagnosis of AI/hypopituitarism shows that admissions generally decreased with age; males had higher rates of admission for @PHENOTYPICFEATURE$; females had higher rates of admission for @DISEASE$ and "other and unspecified causes" of AI; and AC incidence varied by age and sex.	false
+c5692fb5b36d353f95c9b1011b1a7c81e78f01a9	Admission rates for all AI, @PHENOTYPICFEATURE$, congenital adrenal hyperplasia (@DISEASE$), and "other and unspecified causes" of AI were highest among infants and decreased with age.	false
+d818790e29aef805956407b05f3ecbcaa157dad0	It is the second major form of @DISEASE$ associated with @PHENOTYPICFEATURE$ and hypopotassemia.	false
+f7337d987c79c8a65a1927a9e8cb907c50400efe	Patients with ovarian failure, @PHENOTYPICFEATURE$, hypothyroidism, or forms of @DISEASE$ should be treated with the appropriate replacement therapy.	false
+c2f6db5159777f9d47d14beb3bef4a3651a6d75e	Moreover, the parallel that should exist, according to the fT theory, between individuals with @PHENOTYPICFEATURE$ and individuals with congenital adrenal hyperplasia (@DISEASE$), because of their high fT levels, is unclear.	false
+6a1f7af6e2449999b3e902260021614bf791aefb	@PHENOTYPICFEATURE$/osteopenia was present in 81% of @DISEASE$ patients compared with 32% in controls (?30 years).	false
+bc5162df6fe23b0cafeede6305f1840910176f6b	Novel genetic and neuropathological insights in neurogenic @PHENOTYPICFEATURE$, ataxia, and @DISEASE$ (NARP).	false
+b91c10c153e9aae1ad889d206680cac87522be22	@DISEASE$, hypopituitarism, nephronophthisis, and mild @PHENOTYPICFEATURE$ (RHYNS): a new syndrome?	false
+b91914ff8443eab988c13264c475b7f874ad1413	BBS-6 comprises @DISEASE$, polydactyly, obesity, mental retardation, renal and @PHENOTYPICFEATURE$.	false
+1af79e123882307c85d93d8fc29fae5b54ac886b	A patient with @DISEASE$, hypertension with interstitial nephropathy, @PHENOTYPICFEATURE$ with Madelung deformity of the forearms and an unclassified type of brachydactyly is described.	false
+19b26923cf362da43dff71f1f2bca1481d1dfc3c	A newly recognized @PHENOTYPICFEATURE$ with rhizomelic limbs and @DISEASE$.	false
+7326bb292d0312a1c122a51fe102b617ac6fd366	The phenotype of this pleiotropic disease includes @DISEASE$, postaxial polydactyly, truncal obesity, learning disabilities, hypogonadism and @PHENOTYPICFEATURE$, among others.	false
+f0cd518705154f9c4a4ec36c3e2e28267f3fa745	Myoclonus epilepsy, @DISEASE$, leukoencephalopathy and @PHENOTYPICFEATURE$ associated with a novel m.5513G>A mutation in the MT-TW gene.	false
+663a339ac1343fde074c5d7f5c58f3c2f4e006f3	[NARP (neurogenic @PHENOTYPICFEATURE$, ataxia and @DISEASE$)].	false
+4e22d7104d91d09a4f485116f33beb30b7d15573	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; @PHENOTYPICFEATURE$ epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and @DISEASE$; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+0552e59bb8bb3f7e69d38865a428b0d32926bb5f	Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic @PHENOTYPICFEATURE$, ataxia, and @DISEASE$; Leigh's syndrome; and coenzyme Q10 deficiency.	false
+f82ceafbc20c7e2e804a8ff1eaf0eeb78d55e1be	Extrarenal manifestations are known, such as @DISEASE$, brainstem and @PHENOTYPICFEATURE$, liver fibrosis, and ocular motor apraxia type Cogan.	false
+483e4c3656369c5955e33acba8308bb15ff42de7	We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of @DISEASE$ and progressive @PHENOTYPICFEATURE$, and the genetic feature of X linked recessive inheritance.	false
+3b3b3c4607f338b00345882844efcf64b14bdbfe	Mean total serum bilirubin, serum Tau, and S100B levels of infants who manifested @DISEASE$, @PHENOTYPICFEATURE$, or electroencephalogram abnormalities were significantly higher than in infants without these abnormalities (P < 0.05).	false
+65b73bea376556c0d4d0a402b86fadce11711242	Importance of both ABR and OAE examination should be widely announced and @DISEASE$ must be campaigned stressed to be clinical entity among personnel who take care of children with @PHENOTYPICFEATURE$.	false
+bee930482857dacb0c2e220827e23a9e9119b1af	Children with @DISEASE$ (AN) have variable hearing on pure tone testing, and the presence of @PHENOTYPICFEATURE$ often play a major role in the decision to offer cochlear implantation (CI) in this population.	false
+3ebaf86feec4eb38eed09b38bb02668cc5c2e0af	The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of @PHENOTYPICFEATURE$ associated with Leber's hereditary optic neuropathy (LHON) and to determine the perceptual consequences of @DISEASE$ (AN) in affected listeners.	false
+f7949ef50e7f0801dbd7eb541b4748d9131450f1	To find out the prevalence and types of @PHENOTYPICFEATURE$ associated in @DISEASE$ in a large tertiary referral center.	false
+93a2121588a6287ea8d291082e7d2eca34002bfe	Those deafened by cytomegalovirus or meningitis and those with @DISEASE$ were found to have the greatest number of co-existing additional difficulties including epilepsy and @PHENOTYPICFEATURE$, while those with an aetiology of Connexin 26 had almost no additional difficulties.	false
+b6a0041947d900db6142d58180fb247c86321be5	@DISEASE$ is an early onset @PHENOTYPICFEATURE$ that causes severe visual impairment.	false
+577085478cbe9258b710fa5a3312af84d29f8991	Autosomal recessive @DISEASE$ is a rare disorder characterized by total absent color vision, nystagmus, photophobia, and @PHENOTYPICFEATURE$, frequently leading to 'legal blindness'.	false
+e386a7ff4e3b944c82eee75a3b4f83076182ba1f	@DISEASE$ refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and @PHENOTYPICFEATURE$.	false
+3de3d71fb9b852562821ff741ab1bb5605705080	Middle and inner @PHENOTYPICFEATURE$ associated with @DISEASE$ were categorized.	false
+99a8049930dbc6140b44ee2bc735b91a8b9058a2	The @DISEASE$ is associated with @PHENOTYPICFEATURE$ and deafness in addition to other malformations.	false
+dbe4cfe13de2bf2ac02c5e078dc1ebcac014e832	@DISEASE$ is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and @PHENOTYPICFEATURE$.	false
+710149e3d896e069c69bc0cde7c7ca3fb652c8b0	@DISEASE$ is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and @PHENOTYPICFEATURE$.	false
+e33cf00c5d8a08be28fc03e16b5fdfd0b497db35	Regardless of the extent of inner ear anomalies and intellectual faculties, cochlear implantation (CI) with careful treatment planning can be a highly effective option for hearing rehabilitation in children with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+8b6229af00a5fdc1d7cea52edf31ed7fb85cc625	Regardless of the extent of inner @PHENOTYPICFEATURE$ and intellectual faculties, cochlear implantation (CI) with careful treatment planning can be a highly effective option for hearing rehabilitation in children with sensorineural hearing loss and @DISEASE$.	false
+9b7b5572c0603fb9b345e868a27b6a64b71a8fc1	The second patient, with @DISEASE$, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe @PHENOTYPICFEATURE$.	false
+558423c728f718696d19b6f80b0ed124c28e1a43	The @DISEASE$ characterized by coloboma, heart defects, atresia of the choanae, retarded growth, genitourinary hypoplasia, and @PHENOTYPICFEATURE$ is one of the rare syndromes.	false
+62a0dfc36382889c5a94c25f887a002c3ab26a13	We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external @PHENOTYPICFEATURE$, and we also review the previously reported literature concerning @DISEASE$.	false
+ca52cde071971f5b92a7f8188e00761f5d9af26a	We experienced three cases of @DISEASE$ who displayed ocular coloboma, heart defects, retarded growth and development, and external @PHENOTYPICFEATURE$, and we also review the previously reported literature concerning CHARGE syndrome.	false
+908e4eacc2101c8d6c5fa878edd131f2fe6bf9c9	@DISEASE$ is a multisystemic disorder comprising colobomas, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, @PHENOTYPICFEATURE$ and deafness.	false
+8e7151707953b01d3c34667bcf565736e94cf8e9	SSTs displayed the following histopathological features: 1) relatively well-circumscribed cellular nodules that were randomly distributed in the fibrous or @PHENOTYPICFEATURE$ stroma; 2) a characteristic alternating pattern of hypercellular and hypocellular areas; 3) a @DISEASE$-like vascular growth pattern in the cellular nodules; 4) bland-looking spindle-shaped cells and round or polygonal cells densely clustered around blood vessels; and 5) red blood cell-containing intracytoplasmic vacuole-like spaces in the tumor cell cytoplasm, possibly indicating epithelioid hemangioendothelioma. Immunohistochemically, the tumor cells exhibited diffuse and moderate-to-strong TFE3 expression in 7 of the 9 SSTs.	false
+b6bc6a52ef0c9cdb912baa0784dbad666120d6cd	Cases of @DISEASE$/hemangiopericytoma (18), desmoplastic round cell tumor (14), Ewing-like @PHENOTYPICFEATURE$ (6), epithelioid hemangioendothelioma (5), clear cell sarcoma (4), myxofibrosarcoma (4), low grade fibromyxoid sarcoma (2) were all negative.	false
+da76e107ee19ebacff388051903ae0de6e0c53b4	Cases of @DISEASE$/hemangiopericytoma (18), desmoplastic round cell tumor (14), Ewing-like sarcoma (6), epithelioid hemangioendothelioma (5), clear cell sarcoma (4), myxofibrosarcoma (4), low grade fibromyxoid @PHENOTYPICFEATURE$ (2) were all negative.	false
+c53a89e0d3057e1b5be840e241501d019cb44445	Cases of solitary fibrous tumor/@DISEASE$ (18), desmoplastic round cell tumor (14), Ewing-like @PHENOTYPICFEATURE$ (6), epithelioid hemangioendothelioma (5), clear cell sarcoma (4), myxofibrosarcoma (4), low grade fibromyxoid sarcoma (2) were all negative.	false
+75be16155625377e4051cd46b3979215ce454ae0	Cases of solitary fibrous tumor/@DISEASE$ (18), desmoplastic round cell tumor (14), Ewing-like sarcoma (6), epithelioid hemangioendothelioma (5), clear cell sarcoma (4), myxofibrosarcoma (4), low grade fibromyxoid @PHENOTYPICFEATURE$ (2) were all negative.	false
+0ce0e52bc6ca1d4e9965506fed60902a39a6cd43	Imaging findings of intracranial anaplastic hemangiopericytoma had more pronounced lobulation, cross-leaf growth tendency, more and easier bleeding, more necrosis, more cystic changes giving rise to heterogeneous signals, rarer frequency of the "dural tail sign", more damage near the skull, and more significant peritumoral @PHENOTYPICFEATURE$ than @DISEASE$.	false
+b0f5f0e62edd64a1d67b0980c42e0b04dbf71a03	Imaging findings of intracranial anaplastic @DISEASE$ had more pronounced lobulation, cross-leaf growth tendency, more and easier bleeding, more necrosis, more cystic changes giving rise to heterogeneous signals, rarer frequency of the "dural tail sign", more damage near the skull, and more significant peritumoral @PHENOTYPICFEATURE$ than hemangiopericytoma.	false
+4c5317079d165b8ff0d1b869b217173d40394ef6	Some areas showed branching @DISEASE$-like vessels with tumor cells radiating from the wall, while other areas were @PHENOTYPICFEATURE$ and hyalinized with sparse stromal cells and abundant reticular vessels.	false
+22760d139dba25ff31803b4b4a9c53277768e229	Nevertheless, some of the reversible abnormalities may secondarily amplify the morbidity associated with obesity: the hyperinsulinemia may be related to the increased risk of hypertension, @PHENOTYPICFEATURE$, coronary disease, and Type II diabetes; the elevated levels of free estradiol in obese women may be related to their increased risk of breast and @DISEASE$.	false
+2b2231f7051399453f51b96d36110a2f5466a8d3	There is limited evidence suggesting that obesity may also be associated with poor prognosis among patients with colorectal cancer, @PHENOTYPICFEATURE$, @DISEASE$, ovarian cancer, and pancreatic cancer.	false
+3c2e3b45732e2f3e26f1efe20218cbc005bdfced	Linc-ROR has been shown to be dysregulated in many types of cancers, including @PHENOTYPICFEATURE$ (BC), pancreatic cancer (PC), hepatocellular cancer (HCC), @DISEASE$ (EC), and nasopharyngeal carcinoma (NPC).	false
+beb09093dbe73c28b34232a8ee1728f06f61c160	The predictive value of MLH1 or MSH2 protein expression for the presence of truncating germline mutations was examined in benign and (pre)malignant endometrial samples from 3 patient groups: (I) 10 @DISEASE$ patients from hereditary non-polyposis colorectal cancer (HNPCC) families with (n = 6) or without (n = 4) a known germline @PHENOTYPICFEATURE$; (II) 15 women from HNPCC families with (n = 7) or without (n = 8) a known germline mutation, who underwent endometrial sampling for non-malignant reasons; (III) 38 endometrial cancer patients <50 years of age, without HNPCC family history.	false
+4545eef6b5e9ce3174d9011854b92dae79cd8860	The predictive value of MLH1 or MSH2 protein expression for the presence of truncating germline mutations was examined in benign and (pre)malignant endometrial samples from 3 patient groups: (I) 10 endometrial cancer patients from hereditary non-polyposis colorectal cancer (HNPCC) families with (n = 6) or without (n = 4) a known germline @PHENOTYPICFEATURE$; (II) 15 women from HNPCC families with (n = 7) or without (n = 8) a known germline mutation, who underwent endometrial sampling for non-malignant reasons; (III) 38 @DISEASE$ patients <50 years of age, without HNPCC family history.	false
+a29c143f72a81ef394e928fba61e7021a3811e93	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, @DISEASE$, renal cell carcinoma, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+d6377ae403138f154c7cdde74096261ca7d0db5f	Besides the well-established effects on type 2 diabetes and cardiovascular disease, there is convincing evidence today that obesity also increases the risk of several types of cancer, including colorectal cancer, postmenopausal breast cancer, @DISEASE$, @PHENOTYPICFEATURE$, esophageal adenocarcinoma, pancreatic cancer, and liver cancer.	false
+23b78552bbb50d2330a6ba76bcda3c0821bb91ac	For some cancer types, there is also some evidence that weight gain during adulthood increases cancer risk, e.g., colorectal cancer, postmenopausal @PHENOTYPICFEATURE$, @DISEASE$, and liver cancer.	false
+7974636d37301048c7d297e9cfa58e1b1b0d0495	As reported in previous studies on patients with @PHENOTYPICFEATURE$, our data suggest that the up-regulation of MIF in patients with @DISEASE$ might be related to the inhibition of distant and lymphatic spread.	false
+023edd951eb570fa113869497bb9416a0e3d8b65	Percentages of vertical growth phase @PHENOTYPICFEATURE$-infiltrating lymphocytes and radial growth phase regression were significantly higher in cases with @DISEASE$ compared to those without SIC (P?=?.005); lymphatic invasion was also detected more frequently in cases with SIC (P?=?.001).	false
+9b7af9393401e1dc3417f3871e4a577d4eae1788	Mortality resulted from infections and morbidity from @DISEASE$ syndrome, pulmonary and hepatic insufficiency, scleroderma-like skin disease, and @PHENOTYPICFEATURE$.	false
+86a0811fa1112aa8c8c3b6f745084d7babb97cd0	Mastocytosis should be suspected in patients who present with a constellation of symptoms, including flushing, @PHENOTYPICFEATURE$, diarrhea, unexplained syncope, and classic @DISEASE$ lesions.	false
+8b61c29a6e24e7f204ca2fc433fc1eafd26f342c	Typical clinical and laboratory features of SM include @DISEASE$, mast cell mediator symptoms (eg, headache, flushing, lightheadedness, urticaria and pruritus, nausea, diarrhea, @PHENOTYPICFEATURE$, and vasodilatory shock), bone pain (eg, osteoporosis, lytic bone lesions, and fractures), hepatosplenomegaly, cytopenia, eosinophilia, elevated serum tryptase and histamine, and bone marrow fibrosis and angiogenesis.	false
+da02027fb341fc5b0813c521508193bd563954a7	@PHENOTYPICFEATURE$ and gastroesophageal reflux in a girl with @DISEASE$.	false
+1577952941df7a7dd11d58719371799e6b956d0b	Systemic mast cell disease (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, @PHENOTYPICFEATURE$, fever, @DISEASE$, hepatosplenomegaly and lymphadenopathy.	false
+2d2920ee7ee7269a24725e222e1f40da4ccfed87	These symptoms include @DISEASE$, flushing, syncope with hypotension, headaches, nausea, @PHENOTYPICFEATURE$, diarrhea, and occasional bronchospasm.	false
+50b40b2a391694530362e52c7f362928d40f4d71	Further evidence of @PHENOTYPICFEATURE$ heterogeneity of the @DISEASE$ gene in Tunisian families: a spectrum of private and ethnic specific mutations.	false
+77b7c66044e831497b8f3b77badb317f6657ac9b	Hand-foot @DISEASE$, fatigue, rash, @PHENOTYPICFEATURE$, and hypertension were the most frequently observed adverse effects (AEs) associated with sorafenib use and the incidence of these AEs (all grades) was 80% (95% CI: 68-91), 68% (95% CI: 59-77), 67% (95% CI: 57-78), 66% (95% CI: 50-82), 52%(95% CI: 33-72), and 31% (95% CI: 21-42) respectively.	false
+4c500efced4c8d17bf02f82c57bc6033bd473fae	Common side effects include asthenia/tiredness, loss of appetite, hand-foot skin @DISEASE$, mucositis, @PHENOTYPICFEATURE$, infections, hypertension and rash.	false
+5ed433c06049061ae7b97287f78b9d6ad3864572	Cardiomyopathy, @PHENOTYPICFEATURE$, and autophagic @DISEASE$.	false
+d51110bcc066dfec5962990f2723b3ccdf038178	Marinesco-Sj?gren syndrome (MSS) features @PHENOTYPICFEATURE$, mental retardation, cataracts, and progressive @DISEASE$ with peculiar myonuclear alterations.	false
+363c74b6fe6b598de63bb1e347bbe29a576b9322	Marinesco-Sj?gren syndrome (MSS) features cerebellar ataxia, @PHENOTYPICFEATURE$, cataracts, and progressive @DISEASE$ with peculiar myonuclear alterations.	false
+f3440a34a39e2ad655f90eba61d32231a2d367e6	A 21-year-old man with childhood-onset @PHENOTYPICFEATURE$, non-obstructive hypertrophic cardiomyopathy, and @DISEASE$ is presented.	false
+5ed433c06049061ae7b97287f78b9d6ad3864572	Cardiomyopathy, @PHENOTYPICFEATURE$, and autophagic @DISEASE$.	false
+5c0aa8aa384968fda296b1d9c5ac6e84a4d1354c	Two brothers had nonobstructive hypertrophic cardiomyopathy, @PHENOTYPICFEATURE$, and @DISEASE$, and their mother died of cardiopathy at age 31.	false
+abb9e677d089d57a1d5f2f509df75095b98599a9	This patient displays the typical clinical triad, with cardiomyopathy, @PHENOTYPICFEATURE$ and myopathy, and a @DISEASE$ without acid alpha-glucosidase deficiency.	false
+06291f5cd78092fb439fffbace30ec7fa3bd401b	[Myocardiopathy, @PHENOTYPICFEATURE$ and autophagic @DISEASE$].	false
+793b210c5ce791aebdc2788790022c04c7a86ebc	Sarcolemmal indentation in cardiomyopathy with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+86ce42febdb03c0f49b7d94334d476ef8072447b	Only a 23-year-old male suffered from the triad of clinical manifestations (cardiomyopathy, @PHENOTYPICFEATURE$ and @DISEASE$).	false
+887644d779bbb86b284dca59872afc36f4eb1b0b	The clinical and morphological findings of a familial case affected by @PHENOTYPICFEATURE$ biventricular hypertrophic cardiomyopathy and @DISEASE$ are reported.	false
+51981d02b967540b7df472c018a171351babe3ff	Patients with infantile-onset @DISEASE$ (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with @PHENOTYPICFEATURE$.	false
+fa2c03e0b72a603bedec4adac828454e3ce9f0a5	We conclude that facial-muscle weakness, @PHENOTYPICFEATURE$ and dysphagia are common in long-term survivors receiving ERT for classic infantile @DISEASE$.	false
+d8d5ef9ed55d75fd097de84fd40ec1b393e266eb	We here discussed medical practice after adolescence in child neurology for these patients with myopathies, such as @PHENOTYPICFEATURE$, @DISEASE$ and juvenile dermatomyositis.	false
+5a2dcfd87a92a0a0e4fe7c2867b64da6253865ac	Aberrations in neural crest development can lead to numerous diseases, including cancers such as @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a7b3ad4034abb229f80d86d93ed0238feda3cc07	Posterior reversible encephalopathy syndrome (PRES) due to @DISEASE$ in a child presenting with acute @PHENOTYPICFEATURE$.	false
+c931629d759376fd8516e4fb720cbc2a196f3654	A similar protection against @DISEASE$, the principal extracranial neural cell @PHENOTYPICFEATURE$, has been observed in children with DS.	false
+fe2dbf95324a6dc6349c040587478a899f9f9224	Severe hypertension and @PHENOTYPICFEATURE$ associated with @DISEASE$: a case report.	false
+1a481deb128f1b59cfa32a723e5ac1c6e2c0437d	@DISEASE$, diaphragmatic hernia, neural tube defects, broncho-pulmonary abnormalities, and @PHENOTYPICFEATURE$ are conditions associated with partial trisomy of larger fragments of 2p.	false
+b804c5f7326cbadc277ad06a87938374d9671957	An unusual case of severe burns, meningitis, obstructive @PHENOTYPICFEATURE$ and @DISEASE$ in a child under age two.	false
+316c721ad914376b9e520a05bd38eac34f2097a1	The authors report on 3-year-old-girl with @DISEASE$ complicated by severe hypertension and @PHENOTYPICFEATURE$.	false
+1dbf9bbd9296c88138b701055725d93a2b404771	Data on the prevalence of @PHENOTYPICFEATURE$ (CHD) in @DISEASE$ patients are inconsistent.	false
+ff15dce439977e542ed316dd6a8f5bff28a3beec	[131I]MIBG was compared with that of [131I]MIBG over a range of specific activities by the assessment of @DISEASE$ spheroid @PHENOTYPICFEATURE$.	false
+aaf9975602b52a49f30c8f8852fa9aaec6b98d86	Our findings support the hypothesis of an association between @DISEASE$ and congenital, especially urogenital and @PHENOTYPICFEATURE$.	false
+60e3ff1d219fbe2591f4fd98177658c7fa0512fb	A 70-year-old woman was referred to our hospital because of right knee dislocation after TKA was performed on her right knee due to severe @DISEASE$ deformity and @PHENOTYPICFEATURE$.	false
+2333eac22215702b1cb59d08a30476b4d37f7421	The patient developed severe @DISEASE$ deformity and @PHENOTYPICFEATURE$ and experienced severe pain in the knee.	false
+d4f029d2bb4d3227e0f33a2b5250f006f5bfba9c	Besides peptic ulcers, erosions, esophageal varices, @PHENOTYPICFEATURE$ and non-@DISEASE$ esophageal lesions, vascular abnormalities lead to an upper gastrointestinal hemorrhage in 1-5% of cases.	false
+bd3b663d109c90b3dc6355b917f6c9c8eb9d3602	We report a patient with severe @DISEASE$ deformity and tibial shortening caused by dysplasia epiphysealis hemimelica (DEH), a rare skeletal developmental disorder characterized by an osteocartilaginous @PHENOTYPICFEATURE$ arising from an epiphysis in young children.	false
+c1d43aac7da479947f3bba9a9080d3102b2fc6b3	@DISEASE$ (MKS) is a rare autosomal recessive condition consisting of congenital hydrometrocolpos, polydactyly and @PHENOTYPICFEATURE$.	false
+4aadd6a02cc9db8a34f484e956b74799547cfb9d	@DISEASE$ comprises hydrometrocolpos, polydactyly, and @PHENOTYPICFEATURE$ and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies.	false
+4b99a29c1585750fe50781812378dc72dbd03289	@DISEASE$ comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, @PHENOTYPICFEATURE$, mental retardation, and renal and genital anomalies.	false
+3fbe5e28ba9f046d902524b15f6ec73f6df58bf7	@DISEASE$ is an uncommon disease, typically characterized by hydrometrocolpos, polydactyly and @PHENOTYPICFEATURE$.	false
+be17c35df81aa12c29c03cdbe3ac2633596ffe59	A triad of congenital HMC, polydactyly, and @PHENOTYPICFEATURE$ are the cardinal features of @DISEASE$, which is also known as hydrometrocolpos-polydactyly syndrome.	false
+bfe46d7e890a7aa4ebfcf7bae84860b0ed60efe2	@DISEASE$ (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, @PHENOTYPICFEATURE$ and hydrometrocolpos, a congenital structural abnormality of female genitalia.	false
+927726744bf160b2d64a71dd822d0424cde16e14	@DISEASE$ (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and @PHENOTYPICFEATURE$.	false
+dd9ac8a7a2b4f7922e7ad1928d200fc4fed97959	@PHENOTYPICFEATURE$ are rare in BBS, and @DISEASE$ patients do not develop retinitis pigmentosa.	false
+d0fb23a900a0407d9a4bb22634368335f6c129ce	Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the @PHENOTYPICFEATURE$ in @DISEASE$ patients.	false
+25aeacabb9a76c83a5f4b66c2c8181a3dfc31d7d	12,13), mutation of which also causes @DISEASE$ (hydrometrocolpos, post-axial polydactyly, and @PHENOTYPICFEATURE$).	false
+f86eed55ebbaf39a6106f6d78c61209782612c13	@DISEASE$ (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes @PHENOTYPICFEATURE$.	false
+ac2719f69483cc32e3b67b6f509bb80ca6fbb7b1	We investigated the effect of Sho-saiko-to (SST; a Japanese modified traditional Chinese herbal medicine containing seven medicinal plants) on the formation and growth of @DISEASE$ and mammary tumour growth in SHN virgin mice which showed a high incidence of spontaneous mammary @PHENOTYPICFEATURE$.	false
+983c8a9c6c7a8f5b191ee4e8d9df27a6c294ae3f	We investigated the effect of Sho-saiko-to (SST; a Japanese modified traditional Chinese herbal medicine containing seven medicinal plants) on the formation and growth of @DISEASE$ and mammary @PHENOTYPICFEATURE$ growth in SHN virgin mice which showed a high incidence of spontaneous mammary tumours.	false
+54b13e4ba344095d151276d11b6b7a120c7c329f	Aseptic effusion into the retropharyngeal space is rare; reported etiologies include internal jugular vein thrombosis, @PHENOTYPICFEATURE$, radiation therapy, trauma, acute calcific tendinitis, @DISEASE$, and myxedema of hypothyroidism.	false
+f8cfa0a72d1dfd858012e0c2929970ba473a281b	All 17 tumors displayed reduced levels of the MMTV-specific long terminal repeat (LTR) transcript (1.6 kb) as compared with @DISEASE$ tissue; @PHENOTYPICFEATURE$ with moderate levels of LTR transcript expressed the 3.8-kb envelope message as well, one not detected in HANs.	false
+6fc0f782934b5a89609db6cceae5c85fe8bfaf99	All 17 @PHENOTYPICFEATURE$ displayed reduced levels of the MMTV-specific long terminal repeat (LTR) transcript (1.6 kb) as compared with @DISEASE$ tissue; tumors with moderate levels of LTR transcript expressed the 3.8-kb envelope message as well, one not detected in HANs.	false
+9c5bab7bb9491797a10b951c6b1aaabb77bcd221	This was especially apparent in young mice (3-7 wk old) in which a 2-week delay in treatment resulted in a 20-week delay in @DISEASE$ or @PHENOTYPICFEATURE$ onset.	false
+73b50ea4978a3b7a55d870a4e36d8c7b81e307c8	From the results we concluded that FIH combined with @DISEASE$ could provide an intensive therapeutic effect for treatment of well-localized liver tumors with minimal damages to the liver parenchyma, because of selective heating of the @PHENOTYPICFEATURE$.	false
+934a13fbea9c9abf6953e2964ea3ecf01af5e96a	The time course of appearance of hyperplastic alveolar nodule(s) (@DISEASE$) and mammary @PHENOTYPICFEATURE$(s) (MT) was determined in untreated virgin "viable yellow" (Avy/A) and non-yellow (A/a) (C3H/HeNIcrWf X VY/Wf)F1 female mice.	false
+04c20ecb338ab2ace9c53252a42c153ddf72cbf1	Tissue infiltrating lymphocytes were isolated from BALB/c line C4 preneoplastic hyperplastic alveolar nodules (@DISEASE$) and spontaneous @PHENOTYPICFEATURE$ that arose from the HANs.	false
+e9a22b170bfba5c9489d5c03931578ba4422e704	Mice bearing @DISEASE$ or DH outgrowth lines and mammary @PHENOTYPICFEATURE$ that arose from the outgrowth lines were treated with glucocorticoids or prolactin.	false
+0dcd85bed2e9ebf7a29ad5c3bcdb3537bec809c8	Urticaria and angioedema can be symptoms of systemic diseases (collagenopathies, endocrinopathies, @PHENOTYPICFEATURE$, hemolytic diseases, celiachia) or can be congenital (cold induced familiar urticaria, @DISEASE$).	false
+5aa71cba4a26523f7f44ceed04af30da815294c5	Melkersson-Rosenthal syndrome is a rare form of @DISEASE$ characterised by a triad of symptoms of which incomplete (oligo- or monosymptomatic) forms have been described, frequently associated with dysreactive diseases or @PHENOTYPICFEATURE$.	false
+f19d0c16d340627520c32342c9aa9fb2be3f75c1	Patients with mild forms of @DISEASE$ show @PHENOTYPICFEATURE$ and exhibit dentition problems accompanied by enamel hypoplasia.	false
+757e1e3a656fc9f2225033e7aefc9824dc27550f	Out of them, 30 were normal elderly subjects, 31 were elderly diabetic patients without @DISEASE$ were elderly diabetic patients with @PHENOTYPICFEATURE$, 32 were elderly non-diabetic with cataract, and 30 were normal young subjects.	false
+acc2f5926d797f518b666710cd06beefe8674eb7	Out of them, 30 were normal elderly subjects, 31 were elderly diabetic patients without @DISEASE$ were elderly diabetic patients with cataract, 32 were elderly non-diabetic with @PHENOTYPICFEATURE$, and 30 were normal young subjects.	false
+80af211b2da6f303c0527d9dee67bd7b93f1e491	Forty-two patients (22 men and 20 women, aged from 65 to 75 years) with @DISEASE$ and diabetic polyneuropathy were studied using the following psychometric scales: the Michigan Neuropathy Screening Instrument (MNSI), Neurological symptoms scale (NSS), Neuropathy @PHENOTYPICFEATURE$ Score (NDS), the Numerical Rating Scale (NRS), Kaplan-Feinstein index (KFI), the Covi Anxiety Scale (COVI), the Recovery Locus of Control Scale (RLOC).	false
+963e76890aadbc001a9c23aaacb947eca0fbd119	This case report presents a 42-year-old male with a past history of child abuse, drug abuse, schizoaffective disorder, prior psychiatric hospitalizations, and @DISEASE$ who was admitted to the behavioral health unit with recurrent @PHENOTYPICFEATURE$-like episodes.	false
+b789777a48b40b35e625620c335ab97c106e6318	Our patient was an 87-year-old African-American woman who was a nursing home resident, with a history of @DISEASE$ and subarachnoid hemorrhage leading to aphasia, hemiplegia, @PHENOTYPICFEATURE$ and dysphagia requiring percutaneous gastric feeds.	false
+3dbd44dae36e73f4579604338fb1331aa097858f	@PHENOTYPICFEATURE$ and endocardial fibroelastosis caused by @DISEASE$.	false
+f8b94d6a7a72a7f64386389343395869b9d0607d	Sudden onset @PHENOTYPICFEATURE$ as a presenting manifestation of @DISEASE$.	false
+6ee77ab9a2840cf1feed1f238b6da00fc953530c	Spurious @PHENOTYPICFEATURE$ was diagnosed in a 6-year-old, neutered female, mixed-breed dog with @DISEASE$ associated with an IgM monoclonal gammopathy.	false
+0ccbb9a062f4384be7184a2d3f8eada49fb35813	We present a 67-year-old patient with @DISEASE$ (CLL) who presented with weight loss of 40 pounds, severe diarrhea, hypoalbuminemia and @PHENOTYPICFEATURE$.	false
+c42a3f2cad4dbeb9f628a72f09a066fdaace3d6b	A 68-year-old man with a history of @DISEASE$ well controlled on ibrutinib, hypertension, @PHENOTYPICFEATURE$, and a remote history of smoking (10 pack-years) presented with increasing dyspnea on exertion and cough.	false
+09b29063663203bd87c06c5cb88b7ed25139f949	Influence of @PHENOTYPICFEATURE$ and gender on treatment outcomes in patients with @DISEASE$ (CLL) undergoing rituximab-based chemoimmunotherapy.	false
+4a31df9d3a37e286fd5ce6a0032b2c2b4efaf769	Causes of death varied broadly, including hepatocellular carcinoma, @DISEASE$, generalized atherosclerosis, progressive supranuclear palsy, Parkinson disease, emphysema, and @PHENOTYPICFEATURE$.	false
+70011c2b8cac6a169700678340f12854b1580bb2	The risk was also significantly higher for extracutaneous tumor development like @DISEASE$, colon and kidney cancer (both genders), non-Hodgkin's lymphoma, cervical cancer (females), and @PHENOTYPICFEATURE$ (males).	false
+32d6cc4395afb2ad33354be7db2702b08caa4c07	[Transcatheter treatment of degenerative critical aortic valve stenosis in a patient with severe @PHENOTYPICFEATURE$ and @DISEASE$].	false
+ac36bc732302581987e64e44e6ff450f498b8856	If the analysis is limited to patients over 25 years of age, the number becomes 21 out of 64 cases (38.2%).This prevalence is much higher than that seen for other conditions occasionally found in patients with prekallikrein deficiency, namely hyperthyroidism, lupus erythematosus, @DISEASE$, @PHENOTYPICFEATURE$, peptic ulcer, and myelofibrosis (1-2%).These results indicate the need to investigate further the relation between prekallikrein deficiency and hypertension.	false
+dfdb056c0c0e1fa980e195dd6c442d925fa96407	All fetuses with @PHENOTYPICFEATURE$ had associated anomalies, including seven with aneuploidy and two with @DISEASE$.	false
+01d7722db6de963e066c80c2dafa1f56aae98e38	Achondroplasia is a common @DISEASE$ with severe @PHENOTYPICFEATURE$.	false
+90456ac142b8ded5869c7b27e08026efc9fef2d7	Endochondral gigantism: a newly recognized @DISEASE$ with pre- and postnatal @PHENOTYPICFEATURE$ and endocrine abnormalities.	false
+3505295d9e2eec7a8d36e2ee7d2d0cb3e4b992c2	This is a recently-named entity comprising congenital glaucoma, hypertelorism, @PHENOTYPICFEATURE$ and kyphoscoliosis, @DISEASE$, and developmental delay.	false
+099a87ea1146c2ea6878d58b6f2c84cb398da164	This is a recently-named entity comprising congenital glaucoma, @PHENOTYPICFEATURE$, congenital heart defects and kyphoscoliosis, @DISEASE$, and developmental delay.	false
+c6131fb50b2aa77bf13d3d1650db35c21f17c3e0	All patients had @DISEASE$ or early signs of it, and @PHENOTYPICFEATURE$.	false
+80e6d0a7b730091d789e828c0605889faf81371d	In other cases the cause of @PHENOTYPICFEATURE$ was hypothyreosis and @DISEASE$.	false
+cb4aa63dbb62025ce562a3f8114467b5a63a2090	Extra-neurological features including @PHENOTYPICFEATURE$, coagulopathy, @DISEASE$ and joint hypermobility have sometimes been described in patients with PH.	false
+ec2cab951bb60be10cd737221ecfb4816ab34de7	@DISEASE$ in an infant with @PHENOTYPICFEATURE$, hypospadias, developmental delay, and a complex chromosomal translocation.	false
+fa4ce1dbb502aa9526063b15f3f7685b185feb91	Other recurrent findings include @PHENOTYPICFEATURE$, pectus deformity, joint hypermobility, contractures, and mild @DISEASE$.	false
+747016198ce60885e190300c263c9f26ed804e4f	Most frequent defects were @PHENOTYPICFEATURE$, followed by cleft lip and palate, abdominal wall defects, @DISEASE$, hydrocephalus, polydactyly and Down syndrome.	false
+5cf7c9ce482a564992ab8d217b70012df7b8a3cd	Most frequent defects were heart defects, followed by cleft lip and palate, abdominal wall defects, @DISEASE$, @PHENOTYPICFEATURE$, polydactyly and Down syndrome.	false
+4387240a290ac3434c59fed7c93063b33354e6be	@PHENOTYPICFEATURE$ common in @DISEASE$.	false
+59a8dfb399639087ffec846c5f52870277fd3a96	Once exclusively thought to be found in patients with leukemia and lymphoma, it is now being seen with increased frequency during bone marrow transplant, chemotherapy for solid @PHENOTYPICFEATURE$, and in patients suffering from acquired immune deficiency syndrome and @DISEASE$.	false
+32b531c93385a6ab0cd53e644f808b05bff640d4	Patients with @DISEASE$ frequently develop mood disorder, reversible brain atrophy with transient @PHENOTYPICFEATURE$, rarely delirium or psychosis.	false
+c3e791ed8040a82ae010be33e5477acb4726ee1e	Significant difference in mean serum fT4 concentration was not evident between dogs with hypothyroidism and euthyroid dogs with @DISEASE$ (0.16 +/- 0.13 ng/dl) or @PHENOTYPICFEATURE$ (0.19 +/- 0.10 ng/dl).	false
+51f234ab12ce9775f1a2cc72a54db1300347c50f	Systemic side effects include growth suppression in children, osteoporosis, osteonecrosis, adrenal insufficiency, @DISEASE$, hypertension, glucose intolerance, diabetes, gastritis, gastroesophageal reflux, peptic ulcer disease, weight gain, emotional lability, behavioral changes, opportunistic infections, cataracts, glaucoma, myopathy, myalgia, dysaesthesia, pseudotumor cerebri, hyperlipidemia, malignancy, thrombosis, skin atrophy, @PHENOTYPICFEATURE$, and rebound flaring.	false
+5fb1d9440af0a724a932287abb34d84a0f12c38d	Adults with @DISEASE$ frequently develop brain atrophy, @PHENOTYPICFEATURE$, and depression, with partial to complete resolution after cure.	false
+196a225c404b4cf0ee2207bd0c98422a6da6990f	To evaluate the sleep disturbances of patients with @DISEASE$ and to examine the relationship between the @PHENOTYPICFEATURE$ and plasma levels of delta-sleep-inducing peptide-like immunoreactivity (DSIP-LI), we performed three polysomnographic/endocrinological studies in patients with Cushing syndrome.	false
+02ca9e53a74bfe5f81e7918f032ecb5adbe7459a	To evaluate the sleep disturbances of patients with Cushing syndrome and to examine the relationship between the @PHENOTYPICFEATURE$ and plasma levels of delta-sleep-inducing peptide-like immunoreactivity (DSIP-LI), we performed three polysomnographic/endocrinological studies in patients with @DISEASE$.	false
+87ad9b51033c54748f3d9e5baace99a72d296884	Mental disorders are one of the causes of @PHENOTYPICFEATURE$, for example insomnia due to depression in @DISEASE$.	false
+4e683fb741292f674a6b4e6bc338525a7a516710	Tumors were categorized into noncomplex (NS 4-6) or complex (@DISEASE$-12) @PHENOTYPICFEATURE$, and perioperative outcomes were compared.	false
+6f46cc854ee91b71cc0f7b9c5c123c35f9a9e903	Furthermore, connections are now being made between microbiota dysbiosis and a variety of different diseases such as rheumatoid arthritis, @DISEASE$ diabetes, atopy, and @PHENOTYPICFEATURE$.	false
+a6792607354d83f748c21f3b6ea0c150a5710908	The primary outcome was asthma requiring hospital admission; secondary outcomes were salbutamol inhaler prescription at age 5 years, @PHENOTYPICFEATURE$ at age 5 years, @DISEASE$ diabetes, cancer, and death.	false
+953b0a5c63abc25624d997111c695dd8435bd19a	Among 4467 patients, 28.99% of the patients (n = 1295) were admitted with cancer, 18.03% (n = 805) with pneumonia, 14.06% (n = 628) with heart failure, 11.06% (n = 494) with stroke, 11.11% (n = 496) with sepsis, 8.08% (n = 361) with infectious diseases, 5.6% (n = 250) with severe respiratory disorders, 1.81% (n = 81) with @DISEASE$.05% (n = 47) with @PHENOTYPICFEATURE$, 0.20% (n = 9) with neurologic disorders, and 0.02% (n = 1) with acute rheumatic fever.	false
+c0408b5f02caea6542d420172d536a463674be65	Among 4467 patients, 28.99% of the patients (n = 1295) were admitted with cancer, 18.03% (n = 805) with pneumonia, 14.06% (n = 628) with @PHENOTYPICFEATURE$, 11.06% (n = 494) with stroke, 11.11% (n = 496) with sepsis, 8.08% (n = 361) with infectious diseases, 5.6% (n = 250) with severe respiratory disorders, 1.81% (n = 81) with @DISEASE$.05% (n = 47) with obesity, 0.20% (n = 9) with neurologic disorders, and 0.02% (n = 1) with acute rheumatic fever.	false
+d5625ca01d5ec7b9d2f8a1026278715e35d1fd1f	whereas there were no significant differences in risk of @PHENOTYPICFEATURE$ at age 5 years, @DISEASE$ diabetes, or cancer.	false
+0365bc627d4e9aaa6dee1f251e5e94c16dfa5cf8	pseudomembranous colitis, @DISEASE$ diabetes, atopic diseases, @PHENOTYPICFEATURE$, reactive arthritis.	false
+e3897bd03a719d3c017aa82442c1db7256eac9b4	@DISEASE$ is an autosomal dominant overgrowth syndrome associated with @PHENOTYPICFEATURE$, congenital hypertrichosis, and cardiomegaly.	false
+dbaa9027181374b76cd71dc1995b852470973b30	Bacterial @PHENOTYPICFEATURE$ and diversification of microbiota in @DISEASE$.	false
+681b58487b3b29c9a22442341076ce8a0087d07f	Clinical relevance of breast and @DISEASE$-associated polymorphisms as potential susceptibility markers for @PHENOTYPICFEATURE$ in the Brazilian population.	false
+fd4fe9ed2d25403e19e6b2b95b96f4e6fe0d02de	@DISEASE$ after gastric bypass for @PHENOTYPICFEATURE$.	false
+7e4d54d1fb980f775ab735a14bee8cb0fb729237	Hyponatremia and @PHENOTYPICFEATURE$ are common in patients with cancer, but their prognostic impact in patients who underwent @DISEASE$ (GC) surgery has not been investigated.	false
+148ba00805c5cabe49ff7d624454347086426c2e	Inactivated DFNA5, otherwise described in hereditary bilateral @PHENOTYPICFEATURE$, perhaps favors the development of deafness in patients with @DISEASE$.	false
+47779ebedb6e78474f758c3ddda43f9652b5552f	Inactivated DFNA5, otherwise described in hereditary bilateral deafness, perhaps favors the development of @PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+b910173e1940b4e24177ae22e23ef8aa943b25b3	However, @DISEASE$, @PHENOTYPICFEATURE$ and coronary artery disease are among other sequelae of this chronic infection.	false
+fec9d0b4ea4a21846bcf5ee7daea6c9b6067c41a	Influence of @PHENOTYPICFEATURE$ and bariatric surgery on @DISEASE$.	false
+894b37c35c40f870134110505711d5c4df0a385c	Human esophageal cancer, @DISEASE$, colon cancer and @PHENOTYPICFEATURE$ are common gastrointestinal malignant carcinomas in the world.	false
+889a30f4937136aa31ffd69c965ad32f3e7c0fe6	@DISEASE$ and surgery for @PHENOTYPICFEATURE$.	false
+b5965cb6c1e483a1eb35e9c7879e7cd740524eee	At the crossroad between @PHENOTYPICFEATURE$ and @DISEASE$.	false
+a23de0507d5fa302180f826f04689a403e255b08	Epiphyseal dysplasia and other @PHENOTYPICFEATURE$ in a patient with the @DISEASE$.	false
+bcfa8f488d5dccb0eb1054ce208d0f8bbd3bfe13	Rheumatic paraneoplastic syndromes are paraneoplastic arthritis, palmar fasciitis and polyarthritis syndrome, remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$, pancreatic panniculitis with polyarthritis, paraneoplastic vasculitis, cancer-associated myositis, hypertrophic osteoarthropathy (Marie-Bamberger disease) and @DISEASE$.	false
+a99ad6e5d5b894ea1cf40eaad65e65c3896d1829	This paper discusses selected paraneoplastic rheumatologic syndromes that often occur in older people, including carcinomatous polyarthritis, remitting seronegative symmetrical synovitis with pitting @PHENOTYPICFEATURE$ (RS3PE), palmar fasciitis-polyarthritis syndrome, hypertrophic osteoarthropathy, @DISEASE$, cancerassociated myositis, paraneoplastic scleroderma like syndrome, paraneoplastic vasculitis and paraneoplastic Raynaud's syndrome.	false
+6aa00e70822198d8b361f9d8656e1d156ee9039b	These patients did not exhibit facial dysmorphism, attention deficit hyperactivity disorder, delayed cognitive development and/or learning disabilities, @PHENOTYPICFEATURE$, congenital heart disease, hyperflexibility of joints, large hands and feet, muscular hypotonia or @DISEASE$.	false
+a718d536b145b0add73bb32b8d50dabb383d6d9a	Few studies report incidence of mild @PHENOTYPICFEATURE$ (MCI) and other mild cognitive disorders (@DISEASE$) in cohorts in their 60s, at an age when diagnoses are less stable.	false
+f368b4d60fc04172d06a55c65e0fd2c641d80dcf	The most common risk factor among patients with @PHENOTYPICFEATURE$ (@DISEASE$ or dementia) was hypertension (69; 44.5 %), followed by ischemic heart disease (64, 41.3%).	false
+62f70b149349f5e148ab6512681a442693cc034d	We treated a 28-year-old man with epilepsy, characterised by unprovoked @PHENOTYPICFEATURE$ accompanied by @DISEASE$.	false
+b003b890e77b24168163f88234c57fed248faae2	The aim of this study was to investigate whether dietary intake of these minerals was also associated with increased risk of mild @PHENOTYPICFEATURE$ (MCI, amnestic) and other mild cognitive disorders (@DISEASE$).	false
+0644d0f922895a54c6ef0734c9229e1bc15a8ab7	To investigate self-reports of memory and health as predictors of transition to mild @PHENOTYPICFEATURE$ (MCI) or any mild cognitive disorder (any @DISEASE$) in a community-based study.	false
+173d82ccb0cc3052a5e685f1692f6aa0fd3b7103	We report a 21-year-old Saudi male with early @DISEASE$, recurrent erosions, and @PHENOTYPICFEATURE$, who underwent phototherapeutic keratectomy in the right eye and penetrating keratoplasty in the left eye with more than 2 years of follow-up.	false
+cd3a7fe041c944e18bf2a659d78048759bd9e19d	Preclinical Research Mild Cognitive Impairment (MCI) now termed Mild Neurocognitive Disorder (@DISEASE$) in DSM-5, is widely used to define the disorder in individuals who have subjective cognitive deficits, objective memory impairments, or other @PHENOTYPICFEATURE$, without impairments in daily activities.	false
+5ca656512ca12f78f3a39d3885d3e35c1c0a3372	Such syndromes have long been known in psychiatry under terms, such as complex capacity disorders, minimal cerebral dysfunction (@DISEASE$), minimal brain dysfunction (MBD), mild psycho-organic syndrome, psycho-organic axis syndrome, mild @PHENOTYPICFEATURE$, developmental disorder and developmental biological syndrome.	false
+501c10cc9666d03c3e2a967d0c69245ffdadc9c4	During evaluation of chronic @PHENOTYPICFEATURE$, a 9-year-old male was found to have a horseshoe kidney (HSK) with multicystic dysplasia (@DISEASE$) of the left-sided component.	false
+c4f24d7d8010a5804819e161c652d5f3de1ed56d	Of these, failure to thrive, photosensitivity, and intellectual disability (@PHENOTYPICFEATURE$) developed before 2 or 3 years of age, whereas deafness, sunken eyes, and @DISEASE$ on CT occurred later.	false
+dddc6ace1de11200d51a66694de65e5f6274f630	@DISEASE$ (IBGC) is a neurodegenerative syndrome that is associated with a variety of @PHENOTYPICFEATURE$ and neurobehavioral and cognitive manifestations.	false
+4420e1d3c1bdb5f13047aa338774fd90bb913d2a	@DISEASE$ or Fahr's disease is a neurological condition with a prominent @PHENOTYPICFEATURE$.	false
+27735e827a7f8dd32e84870358e2da766e8597f2	Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, @PHENOTYPICFEATURE$ and @DISEASE$.	false
+d68f0a970e58edb3bfbfde98bd7a3a522b38f54f	@DISEASE$ (IBGC) is a rare neurodegenerative disorder characterized by the deposition of calcium in the brain and variable combinations of @PHENOTYPICFEATURE$, gait impairment and neuropsychiatric symptoms.	false
+2ae5c061488399aa838f9a3efcc3c2281f296272	Hypoparathyroidism-related @DISEASE$ can potentially cause neurological problems, including @PHENOTYPICFEATURE$, that are usually bilateral in keeping with bilateral symmetric lesions.	false
+1e8788fb5bdba5e2334c6206bc11bcaf11bab06e	Idiopathic familial @DISEASE$ associated with juvenile @PHENOTYPICFEATURE$.	false
+94df09a149958ff670894c0f2042b0af7ea81b1e	The incidence of @DISEASE$ in @PHENOTYPICFEATURE$ is probably much greater than previously recognized, especially in post-operative hypoparathyroidism.	false
+0b7a9f22210b9213115994216b13341fad3c5adb	@DISEASE$ (IBGC) is characterized by @PHENOTYPICFEATURE$ and various neuropsychiatric disturbances including mood disorder.	false
+23a623ec1dd9755964b98f7409641d83403df738	A patient is described with post-thyroidectomy @PHENOTYPICFEATURE$ and @DISEASE$.	false
+81dfd318741f5de0969d5e5f9538b89fa9af34f8	[@DISEASE$ @PHENOTYPICFEATURE$ and intracapsular operation].	false
+a4d5185e1be9ddd2f782e5805e916b89943842b8	@DISEASE$ @PHENOTYPICFEATURE$ following spinal anesthesia.	false
+d97c5d4ac7618d87c40c633175f43bfcabd9f106	Tibial lengthening and concomitant @PHENOTYPICFEATURE$ correction in 14 patients with @DISEASE$ deformity after poliomyelitis.	false
+4f4b799931a312e6990bd893be343231711c49dc	@PHENOTYPICFEATURE$ is a leading cause of @DISEASE$ blindness.	false
+56925b0206cd5a07b6cc954ce0b5ce1cfeda5411	The other patient had a sudden severe @DISEASE$ @PHENOTYPICFEATURE$.	false
+4f4b799931a312e6990bd893be343231711c49dc	@PHENOTYPICFEATURE$ is a leading cause of @DISEASE$ blindness.	false
+c4a4a909a9e6c7330dc39a86c7cb6166b25d1d7a	@DISEASE$ @PHENOTYPICFEATURE$ in surgery for otosclerosis.	false
+20063a8ac955593adfe598fcf3751028506b32ae	It is characterized by @DISEASE$ neonatal diabetes and a consistent pattern of neurological abnormalities including cerebellar hypoplasia, learning difficulties, @PHENOTYPICFEATURE$, and visual impairment.	false
+741ccc00baff5ac8feb6af158c01ad061948433e	It is characterized by @DISEASE$ neonatal diabetes and a consistent pattern of neurological abnormalities including cerebellar hypoplasia, learning difficulties, sensorineural deafness, and @PHENOTYPICFEATURE$.	false
+4b511638fa53cdc247f0cf7d62296598e6416b20	We report a 26-year-old woman who survived fulminant hepatic failure but later developed @DISEASE$ @PHENOTYPICFEATURE$.	false
+4f4b799931a312e6990bd893be343231711c49dc	@PHENOTYPICFEATURE$ is a leading cause of @DISEASE$ blindness.	false
+329a9477d83b22a59c2fe9ccbee27580343f7671	The clinical presentations of @DISEASE$ include mental deficiency, hypogonadism, severe @PHENOTYPICFEATURE$, multiple skeletal anomalies, cardiac defects and characteristic facial features.	false
+a5e1aee05b3bb990645f267fe1b94d2da9584699	Discovery of @DISEASE$ in a six years young boy allows description of the main clinical characteristics of this disease: hypotrophy, facial anomalies, @PHENOTYPICFEATURE$, delayed speech development and oligophrenia.	false
+9dfa3d7d25928ce0ad0fb186b40c2722efc23cf2	Discovery of @DISEASE$ in a six years young boy allows description of the main clinical characteristics of this disease: hypotrophy, facial anomalies, hypogenitalism, @PHENOTYPICFEATURE$ and oligophrenia.	false
+fdeb2539b63ea90f89e6065750bd219e4fdb38d7	A rare sex chromosome aneuploidy syndrome, @DISEASE$ is characterized by mental retardation with severe learning difficulties, craniofacial and @PHENOTYPICFEATURE$, hypogonadism, and congenital heart disease.	false
+13ae38d39a38f828e7e3e771dc954fe785ea84d9	Childhood @PHENOTYPICFEATURE$ survivors (@DISEASE$) are known to have developed long-term impairment of lung function.	false
+e834cba319f7f9e1ed6ad4e510adcbe951ac9b26	The Coffin-Lowry syndrome (@DISEASE$) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and @PHENOTYPICFEATURE$, and progressive skeletal deformations.	false
+09aafe2cd01d1072bd4ea69e1ed60f355caaf1ce	Reversible posterior leukoencephalopathy syndrome (RPLS) is a rare brain-@DISEASE$, characterized by clinical symptoms of headache, @PHENOTYPICFEATURE$, seizures and altered mental functioning.	false
+e4ab1df15aca201c86ecdc7a4e5045ba1eb8e870	@DISEASE$ preceding plasma cell @PHENOTYPICFEATURE$.	false
+af10afdbb4e1f8d84f0fcb8a666ceba446d14715	Four patients were identified with @DISEASE$ associated with a primary diagnosis: cardiac transplant rejection in one, septic shock and acute respiratory distress syndrome in two, and neonatal @PHENOTYPICFEATURE$ in one patient.	false
+a4b5c73e9ec899dba36619ab27782d0556993743	@PHENOTYPICFEATURE$ and septicemia are risk factors for @DISEASE$ in children with malignant hematologic diseases.	false
+abb8a4736e0f882f701d322e48badacade55b338	Postoperative @PHENOTYPICFEATURE$ scores were significantly higher in the SILS group than in the @DISEASE$ group (3.07 ? 1.14 vs 2.41 ??0.63, respectively, P < 0.001).	false
+b5727bce6d113586aa54ecf2176d6c0025af512d	Additional common features are caf?-au-lait spots (@DISEASE$), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, @PHENOTYPICFEATURE$ and learning difficulties.	false
+01e82a67c39244c150a1249c786be81206729a76	We report a patient with plasma cell @PHENOTYPICFEATURE$ with @DISEASE$, a rare disorder often associated with monoclonal gammopathy.	false
+60de783a5395557d0c5ff7d0c69a764cc1f567b1	Coffin-Lowry syndrome (@DISEASE$) is an X-linked semi-dominant disorder characterized by diverse phenotypes including intellectual disability, facial and @PHENOTYPICFEATURE$.	false
+4c3776a8f36904842438059e146142cbd0731a89	Our three female patients with sellar and suprasellar mass were clinically diagnosed as having lymphoid @DISEASE$, because of the spontaneous regression of @PHENOTYPICFEATURE$, or presence of immunologically and endocrinologically abnormal findings.	false
+f9d9b16d5cec477bddba097b2e70a78ea0f9f278	A large number of potential lesions may affect the pituitary, including @PHENOTYPICFEATURE$ (adenomas, Rathke cleft cysts, and craniopharyngiomas), inflammatory processes (@DISEASE$, infections), and vascular lesions (apoplexy, infarction).	false
+7a49dffd49006d625f111318539567f40ff51df8	In this study we present a new clinical association of severe neonatal @PHENOTYPICFEATURE$ (@DISEASE$) and HSCR, in a male patient carrying a duplication at the Xq28 region which encompasses the MECP2 and L1CAM genes.	false
+b88865067ccccee20edbfb21b4c498c50276b991	While the majority of chemodenervation clinics worldwide typically use botulinum toxins for the treatment of common conditions such as blepharopsams, cervical dystonia, limb dystonia, and @PHENOTYPICFEATURE$, the unusually high concentration of @DISEASE$ (XDP) has allowed us to collect and describe our experience in the use of botulinum toxin type A (BoNT-A) on rarer dystonic patterns.	false
+13fabfdc76b311bc7ae6819e2f9a26cb0b865f78	Gene loci in the X-linked recessive forms have been assigned to Xq13.1 in the @DISEASE$ syndrome and to Xq22 in X-linked sensorineural deafness, dystonia, and @PHENOTYPICFEATURE$.	false
+376fb02f0a1c245a1cdf531d0bc61c11d80874b8	Indeed, aberrations in plasma concentration or structure of APOA5 are linked to hypertriglyceridemia, @DISEASE$, myocardial infarction risk, @PHENOTYPICFEATURE$, and coronary artery disease.	false
+e9307f23f65fe0c42fe3c12e2b07b241b1881f86	In some families, hypertension and metabolic abnormalities (dyslipidemia, hyperinsulinemia, and @PHENOTYPICFEATURE$) seem to be related to several candidate genes studied but not conclusively proven (@DISEASE$ mutations, dense LDL subfractions, or NIDDM with hyperinsulinemia).	false
+e885325be014d5423507c3f5afa58fc1d4841efc	Unlike most other skeletal chondrodysplasias presenting with neonatal @PHENOTYPICFEATURE$, a proportion of patients with @DISEASE$ may survive well beyond the neonatal period, and hence early identification of the condition is important.	false
+52fe7401d133c5796c0a4e12f913b880fc54bd48	[Sudden bilateral @PHENOTYPICFEATURE$ as first manifestation of @DISEASE$ carcinomatosis].	false
+52fe7401d133c5796c0a4e12f913b880fc54bd48	[Sudden bilateral @PHENOTYPICFEATURE$ as first manifestation of @DISEASE$ carcinomatosis].	false
+15dc72135a96b81308af7c246502c039d2732f4b	[Case report of recurrent @PHENOTYPICFEATURE$ due to uveo-@DISEASE$].	false
+a66bb38f9c4f407c9b016402e1b3424d0201c146	[Bilateral @PHENOTYPICFEATURE$, an initial manifestation of @DISEASE$ carcinomatosis].	false
+0eeef963aa8ddd3d0b75f979275039ffdf4ed61f	Three cases of bilateral @PHENOTYPICFEATURE$ with cytologically-demonstrated @DISEASE$ carcinomatosis are reported.	false
+3f924f8b992b85b56b664be7f4ca34d855e02d56	@DISEASE$ carcinomatosis: an unusual cause of @PHENOTYPICFEATURE$.	false
+42bdb2368e16d26314b4400a1b1d31d4a7afbaf4	[Chronic @DISEASE$ post-hemorrhagic @PHENOTYPICFEATURE$].	false
+c74a413ab3861dcf904b55fedb9f9504f5cc9b45	@PHENOTYPICFEATURE$ and blindness as a presentation of colorectal @DISEASE$ carcinomatosis.	false
+6540b71ba543f70a603d82fd08451f632d496ead	Otitic @PHENOTYPICFEATURE$ @DISEASE$ hydrops; case report.	false
+3356e8fb0fa7cce374fd63c3928825185c83107f	Despite a higher antigen titer with @DISEASE$ lesions, outcomes tended to be worse with parenchymal compared with meningeal lesions or @PHENOTYPICFEATURE$.	false
+e8e3950c5b5fc5a8aa01891b1cf8a14fac80c0ed	Despite a higher antigen titer with meningeal lesions, outcomes tended to be worse with parenchymal compared with @DISEASE$ lesions or @PHENOTYPICFEATURE$.	false
+a74559a8c2c37a82ff9985faf50ba856b4a23996	Protein kinase C? (PKC?) is an oncogenic effector of KRAS that activates multiple signaling pathways that stimulate transformed growth and invasion, and maintain a KRAS @DISEASE$ @PHENOTYPICFEATURE$-initiating cell (TIC) phenotype.	false
+c58824e3a2196db988f7e7c71ebf26583dd1f5d3	Primary @DISEASE$ @PHENOTYPICFEATURE$ exhibit PKC?-ELF3-NOTCH3 signaling, and combined pharmacologic blockade of PKC? and NOTCH synergistically inhibits tumorigenic behavior in vitro and LADC growth in vivo demonstrating the therapeutic potential of PKC?-ELF3-NOTCH3 signal inhibition to more effectively treat KRAS LADC.	false
+61a56dcc10ae2b7957fbb911b80b0f18715ac98b	It offers hope and successful therapy to the severely obese; those with T2DM, @PHENOTYPICFEATURE$, or @DISEASE$; and others plagued by the comorbidities of the metabolic syndrome.	false
+7ef10f205edffebfbb6ade1b12e51d0646c2bc90	Many of these children have obesity-related comorbidities, such as hypertension, dyslipidemia, fatty liver disease, diabetes, @DISEASE$ (PCOS), @PHENOTYPICFEATURE$, psychosocial problems, and others.	false
+2c5657b6408e56973b0f0e82a2594eabbab33958	Besides liver-related complications, NAFLD has been associated with cardiovascular complications, @PHENOTYPICFEATURE$, gout, chronic kidney disease, gallstone disease, colorectal adenomatous polyp, and @DISEASE$.	false
+7af49d8fbd6159cf90bc71eceb28e7e066342d7f	Over the past decade, several serious metabolic complications also have been associated with @DISEASE$ including type 2 diabetes mellitus, metabolic syndrome, @PHENOTYPICFEATURE$, and possibly cardiovascular disease and nonalcoholic fatty liver disease.	false
+bce2d9264ab64ded91f2e71f26611f02ffd5063c	This syndrome predisposes individuals to type 2 diabetes, cardiovascular diseases, essential hypertension, certain forms of cancer, @DISEASE$, nonalcoholic fatty liver disease, and @PHENOTYPICFEATURE$.	false
+7c5b453844f8ca851a29af8b181488040d6bea44	The syndrome itself is associated with various metabolic abnormalities, including insulin resistance, non-alcoholic fatty liver disease, obstructive @PHENOTYPICFEATURE$, male hypogonadism and @DISEASE$.	false
+5fd5e721cc63fd66b95f4deff2384be03a430c5b	Furthermore, sleepiness and fatigue are very prevalent in conditions associated with insulin resistance, for instance, the @DISEASE$ (PCOS), independently of @PHENOTYPICFEATURE$ or obesity, or in conditions of insufficient physical activity.	false
+d0a33bc70aafd8f6ee8a5d65c8613c3321b2c7bc	After adjustment for hypertension, hyperlipidemia, @PHENOTYPICFEATURE$, coronary artery disease, congestive heart failure, hyperthyroidism, hypothyroidism, and @DISEASE$, physicians had a lower risk for DM than the comparisons (adjusted odds ratio [AOR]: 0.75; 95% confidence interval [CI]: 0.68-0.82).	false
+6e080545cdd13d658d476660fe6a2c33b33dc0d5	Obesity causes or contributes to many comorbidities, including type 2 diabetes, hypertension, dyslipidaemia, @PHENOTYPICFEATURE$, non-alcoholic steatohepatitis, orthopaedic problems and @DISEASE$.	false
+0988527221bbf4a43509f602c40d467a57b238f5	The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to @DISEASE$/@PHENOTYPICFEATURE$.	false
+083ba2458f36fd0d75ff6deca5abba429c88f2eb	@DISEASE$ is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive @PHENOTYPICFEATURE$ in some patients.	false
+8a92ee53a2a77d9e809ac6538e4aaee43b931566	The genetic relationships between @DISEASE$ and benign chondroid @PHENOTYPICFEATURE$ are discussed.	false
+cd4bfd73aac726b527003e5f0b79103790432520	Children with torticollis, dystonic episodes or atypical @PHENOTYPICFEATURE$ should be evaluated for @DISEASE$ and Sandifer syndrome.	false
+5a663f30c3c4913196507aeaf9fb6700742bfeba	As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, @DISEASE$, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, @PHENOTYPICFEATURE$, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course.	false
+5f7e49690f9ac1466678da01981ebcefee1ddb87	Included among these are: identification of @PHENOTYPICFEATURE$, treatment of sleep problems, aggressive management of chronic constipation and @DISEASE$ as well as timely referral for preventive dental care.	false
+097ee920036e6b4019f56905473a55a1b6756e47	All patients were assigned to 3 groups according to definite diagnoses as follows: patients with only GERD who were misdiagnosed as having @PHENOTYPICFEATURE$ (group 1: n=16; 28.1%), those with comorbidity of epilepsy and @DISEASE$ (group 2: n=21; 36.8%), and those with the coexistence of GERD with epilepsy and CP (group 3: n=20; 35.1%).	false
+28f28340ed114496e22e8189121e4f2f43ef6e3a	Widespread @PHENOTYPICFEATURE$ in the follow-up of a patient with cartilage-hair hypoplasia--@DISEASE$ spectrum disorder: a coincidental finding?	false
+91c9a8c39e7c7e2ba94310623f3c47fd8e15e231	@DISEASE$ (AAD, OMIM 607095) is a rare @PHENOTYPICFEATURE$ inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH).	false
+9e417e8a01093aea9cb36c48faa71896fb6a994d	@PHENOTYPICFEATURE$ and vocal fold telangiectasia in @DISEASE$.	false
+f80b831be483030590dd9c274178bcba621939d0	None of the patients with @DISEASE$ showed @PHENOTYPICFEATURE$, proteinuria, hypercalciuria or hyperuricosuria.	false
+73d7f6a4a21c560df6703e27ffb6d72e790840a5	Hereditary haemorrhagic telangiectasia (@DISEASE$) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular @PHENOTYPICFEATURE$.	false
+341684a212e3ff2dc2e200a144883ef705238c35	Mutations in ACVRL1 are responsible for @DISEASE$ type 2 (HHT2), a disease manifesting as fragile vessels, capillary @PHENOTYPICFEATURE$, and numerous arterio-venous malformations.	false
+fda4dec18600446b90cf8dc60bb5825083e0924d	Diseases associated with pulmonary shunting on saline TTCE include hereditary hemorrhagic telangiectasia (@DISEASE$), hepatopulmonary syndrome, and some @PHENOTYPICFEATURE$ after partial or complete cavopulmonary anastomosis.	false
+fa60cc94a1ae4a6022c62f8665f480072a6c1b01	Diseases associated with pulmonary shunting on saline TTCE include @DISEASE$ (HHT), hepatopulmonary syndrome, and some @PHENOTYPICFEATURE$ after partial or complete cavopulmonary anastomosis.	false
+60b1836ee69d69ee81e14468b8dbb115bbe56ef6	Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, @PHENOTYPICFEATURE$, eye anomalies and sternal anomalies), @DISEASE$, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation).	false
+6a8483085e66315adbbd360110203fe4bed64a2b	Teaching NeuroImages: Scleral thickening and optic disc @PHENOTYPICFEATURE$ from glycosaminoglycan deposition in @DISEASE$.	false
+23fde6e18dd44d3ec5160c42d74ee446158d5652	@PHENOTYPICFEATURE$ and severe sepsis in an adult case of congenital @DISEASE$ (XLA).	false
+bf12a535224520fa5f1925e701508a47f142692c	We report a 17-month-old boy who was a known case of @DISEASE$ and presented with self-inflicted @PHENOTYPICFEATURE$ of his lips and cheeks.	false
+eb38554eb29c9a4d12282485692ab9bc3ab5de86	Patients were excluded for history of advanced CKD, juvenile gout, cancer, HIV, @PHENOTYPICFEATURE$ lysis syndrome, @DISEASE$ or familial Mediterranean fever.	false
+b708ed55c4667f52ae592cc6777927744882260b	The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in @DISEASE$ (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, @PHENOTYPICFEATURE$, inguinal hernia, etc.).	false
+22b087c560fcd0b0996fa69daccc431463aa8cc8	During hospitalization, in addition to @PHENOTYPICFEATURE$ and hypomagnesemia, he was found to have @DISEASE$, cardiomyopathy, and brain atrophy.	false
+626b3f7ee9ef27daba39a1c628af5e2ed351a74d	During hospitalization, in addition to hypocalcemia and @PHENOTYPICFEATURE$, he was found to have @DISEASE$, cardiomyopathy, and brain atrophy.	false
+319d91fecc196797052d40debfb5132705fa6ce9	ADH patients develop @PHENOTYPICFEATURE$, hyperphosphatemia, and hypercalciuria, similar to the clinical features of @DISEASE$.	false
+1a005d3903b2d0338d4fa9bf467e1a5359f7de90	ADH patients develop hypocalcemia, @PHENOTYPICFEATURE$, and hypercalciuria, similar to the clinical features of @DISEASE$.	false
+96c981083b775f4080b0624ef414506dc5e43f89	Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes @DISEASE$, heart defects, immune deficiency, @PHENOTYPICFEATURE$ and renal malformations.	false
+1ee3cac5d0bc6d8af8b0c7ebf8477167b38b9740	Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes @DISEASE$, @PHENOTYPICFEATURE$, immune deficiency, deafness and renal malformations.	false
+a2b79124e278be546a6c7d6d6953fafb1b8effba	Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes @DISEASE$, heart defects, immune deficiency, deafness and @PHENOTYPICFEATURE$.	false
+1b02ce419790b0c31741f16acf2f11f5984e2225	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hyperphosphatemia, and absent or markedly reduced serum levels of intact PTH.	false
+74b4b9030f923e8739b8f6c8fce2b2e015faf08f	@DISEASE$ is characterized by hypocalcemia, @PHENOTYPICFEATURE$, and absent or markedly reduced serum levels of intact PTH.	false
+8ddc1f279a0a7a40eaf23c6d993030cfad046769	Increased serum FGF-23 levels were found in patients with @PHENOTYPICFEATURE$ and hypocalcemia, caused by @DISEASE$ after thyroidectomy.	false
+83febc8a4a9e09bbcb7b266bbf031f18f9bc5c21	Increased serum FGF-23 levels were found in patients with hyperphosphatemia and @PHENOTYPICFEATURE$, caused by @DISEASE$ after thyroidectomy.	false
+4df270efb2328f80caa0ffca634421f26186013a	@DISEASE$ is characterized by @PHENOTYPICFEATURE$, hyperphosphatemia, and absent or markedly reduced circulating concentrations of parathyroid hormone.	false
+16453596785273eb20fac9287f325c6874842633	@DISEASE$ is characterized by hypocalcemia, @PHENOTYPICFEATURE$, and absent or markedly reduced circulating concentrations of parathyroid hormone.	false
+a95a88cc138fb1147bdcb55de9515a575579a76b	@DISEASE$ is characterized by hypocalcemia and @PHENOTYPICFEATURE$ and is due to insufficient levels of circulating parathyroid hormone.	false
+c2df9cd62f2698d00807fbda928c8b4186209f92	@DISEASE$ is characterized by @PHENOTYPICFEATURE$ and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone.	false
+9288a06572b8d5722fee3fe0e4a288c75ba5560c	She had severe hypocalcemia and @PHENOTYPICFEATURE$, laboratory values typical of @DISEASE$.	false
+ea27c1b643ca8a1c31d886cf993c766d63950b10	She had severe @PHENOTYPICFEATURE$ and hyperphosphatemia, laboratory values typical of @DISEASE$.	false
+aa5d85f828e7a34c059275c74d17111b9ba89a41	Good's syndrome and @DISEASE$ combined with hypocalcaemia, @PHENOTYPICFEATURE$, hypomagnesemia, and hypophosphatemia-Case report.	false
+f4fed85eadbb76246591ff5bf1ee2032911aad89	Good's syndrome and @DISEASE$ combined with hypocalcaemia, hypokalemia, @PHENOTYPICFEATURE$, and hypophosphatemia-Case report.	false
+3e5b749d8890100245b58f2b520140bf8492491d	Primary @DISEASE$ presenting with heart failure and @PHENOTYPICFEATURE$.	false
+a3237264bd217e5d5795bde2de62f815b9c6f061	Primary @DISEASE$ presenting with @PHENOTYPICFEATURE$ and ventricular fibrillation.	false
+1a812553998160da156f2c60fcbea27e13309260	@DISEASE$ (NM) is one of the most common congenital nondystrophic myopathies and is characterized by @PHENOTYPICFEATURE$, often from birth.	false
+02bc005559b393d51389599ed0be5cf21070b4b9	@DISEASE$ is a rare disease associated with @PHENOTYPICFEATURE$ and the presence of rod-shaped structures in the muscle fibers.	false
+c5d9d9215a0b9a1ca202634a6b2582a77a3af02a	When these functions of nebulin are absent, @PHENOTYPICFEATURE$ ensues, as is the case in patients with @DISEASE$ with mutations in nebulin.	false
+68135fd2489e1aa9db1c2291d3867064a66deb3c	@DISEASE$ (NM) is genetically heterogeneous disorder characterized by early onset @PHENOTYPICFEATURE$ and sarcoplasmatic or intranuclear inclusions of rod-shaped Z-disk material in muscle fibers.	false
+4879f5137c948ac05edcb6576f0c464ba3b70954	When these functions of nebulin are compromised, @PHENOTYPICFEATURE$ ensues, as is the case in patients with @DISEASE$.	false
+c6f378fdc6dd5854b088f7a16217eed417ec4e68	@DISEASE$ is a rare, clinically heterogeneous congenital skeletal muscle disease with associated @PHENOTYPICFEATURE$, characterized by the presence of nemaline rods in muscle fibers.	false
+5a76d495e93fd7796b707a40e453967563169fcf	@DISEASE$ (NM) is a common form of congenital nondystrophic skeletal muscle disease characterized by @PHENOTYPICFEATURE$ of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction.	false
+10571e668a6c8cef7ebcc324187ebac394263872	@DISEASE$ (NM) is a rare form of congenital myopathy characterized by slowly progressive or nonprogressive @PHENOTYPICFEATURE$ and pathognomonic rod-like structures within the muscle fibers.	false
+0b9ceb491e42a7f883d46846b97375f43188006f	@DISEASE$ is a human neuromuscular disorder associated with @PHENOTYPICFEATURE$, Z-line accumulations (rods), and myofibrillar disorganization.	false
+5a30a531ff5c385164aa561d5d319aaee41145df	@DISEASE$ (NM) is a congenital muscle disorder associated with @PHENOTYPICFEATURE$, hypotonia, and rod bodies in the skeletal muscle fibers.	false
+851fbdb713754fcd65948ebbdd54130c10727e5c	Potential therapeutic indications for AVP receptor antagonists comprise: 1) The blockade of V(1)-vascular AVP receptors in arterial hypertension, @PHENOTYPICFEATURE$, @DISEASE$, peripheral vascular disease and dysmenorrhea.	false
+39ef0829df862e69b63709e23a6e96cab56e302c	In addition to her chronic symptoms of @DISEASE$, the patient presented with severe hypertension, @PHENOTYPICFEATURE$ and oligoanuria.	false
+715648096f88e6b7be73898f369536d979660db5	P = 0.02) and higher prevalence of cerebrovascular lesions, cardiac @PHENOTYPICFEATURE$, and @DISEASE$ than that found in individuals without factor V Leiden mutation of those having antiphospholipid antibody.	false
+727cec322c98768f9d0bcd502ed6297d75a5e5f1	Recent studies suggest that CGRP could be a useful therapeutic agent in severe @DISEASE$, impotency, ischaemic neurological lesions due to ruptured aneurisms and in severe @PHENOTYPICFEATURE$.	false
+2394b42ef1797afbce0b9ec33954e58a218f3fb0	A child with skin @DISEASE$ (urticaria pigmentosa), and regressive @PHENOTYPICFEATURE$ is presented to illustrate the point.	false
+559727bd2abf36b1c248b3945372e48a13d6d35e	a region frequently amplified in human gliomas and osteosarcomas, and involved in @DISEASE$, a @PHENOTYPICFEATURE$-prone syndrome.	false
+4d144246d2f60b72c29e6362191001badb73820c	The familial cancer syndrome @DISEASE$ is characterised by the development of skin (fibrofolliculomas) and renal @PHENOTYPICFEATURE$ (and lung cysts) and is caused by mutations in the FLCN tumour suppressor gene.	false
+600a03e047dd6b4ce43e7583adfa130d3575e6b8	The familial cancer syndrome @DISEASE$ is characterised by the development of skin (fibrofolliculomas) and renal tumours (and lung cysts) and is caused by mutations in the FLCN @PHENOTYPICFEATURE$ suppressor gene.	false
+d448f6f19902ac959197e9e09f3692f7e73210b2	The late-stage manifestations of EMS and @DISEASE$ are muscle cramping, arthralgia, severe fatigue, and @PHENOTYPICFEATURE$.	false
+2b6b8cba4013e63db5e2fec61f6e57d8bdc8d705	Most frequent in this group are mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), @DISEASE$ type 3 (HSAN3), Friedreich's @PHENOTYPICFEATURE$, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses and neurodegeneration with brain iron accumulation.	false
+9e19bc2db8cb11cece5ce46dd08108bc14f3ec81	These families comprised six multigenerational families, including two previously reported families not linked to the SPTLC1 locus on chromosome 9 and one multigenerational family with a complicated @DISEASE$ syndrome with associated palmar plantar keratosis, @PHENOTYPICFEATURE$ and spastic paraplegia.	false
+d4c03f3279410b1ae15179fc019f24e236682d32	Slowing of the central information-processing speed (@DISEASE$) is frequently observed in epilepsy as a consequence of @PHENOTYPICFEATURE$ and/or antiepileptic drugs (AEDs).	false
+396c0f0c859889cb8e4c64a526a2247cc23db461	@DISEASE$ presenting as @PHENOTYPICFEATURE$.	false
+44d343cd521d6245cdc2f634d04fb0f21950dad9	Mitochondrial cytopathy presenting as @DISEASE$ with progressive external ophthalmoplegia, @PHENOTYPICFEATURE$ and fatal myoclonic epileptic status.	false
+628916b34ea0e53e7ec4b324d1128e493e95b1ab	Mutation in FAM134B causing @DISEASE$ with @PHENOTYPICFEATURE$ in a Turkish family.	false
+41beef42052e33e673478ebc2456f9b1dd495ba0	@DISEASE$ with @PHENOTYPICFEATURE$ and late onset.	false
+55b9b5f8920561576999152a7d9441b782523d40	For comparison we also recorded muscle spindles from 15 healthy subjects and from two patients with @DISEASE$ IV, who have profound sensory disturbances but no @PHENOTYPICFEATURE$.	false
+7bbf6f52f4b78050bc0b6a8e694b93b73d6fd157	It would appear that the @DISEASE$ may represent a congenital or developmental @PHENOTYPICFEATURE$ epithelium, or both, and that the glaucoma which occasionally occurs in conjunction with this syndrome is of the usual open-angle type.	false
+22c5a53636f8fe88960529bb1cc94dceee257dd1	Congenital and/or structural @PHENOTYPICFEATURE$ pigment epithelial/photoreceptor complex should be considered when models of the etiology of @DISEASE$ are proposed.	false
+e3ac3a5ebfaccf4427e68b6cf30313e1305c1ad0	Despite this, as an intraocular procedure, it has potential risks such as @PHENOTYPICFEATURE$, chronic uveitis, pupil ovalization, corneal endothelial cell loss, @DISEASE$, pupillary block glaucoma, astigmatism, or endophthalmitis.	false
+b902a1f07ca4cc88fc72878e94ca94e951e4e07e	Excessive iris trauma during @PHENOTYPICFEATURE$ surgery with or without IOL implantation and intermittent contact between the lens implant and the iris in the post-operative period may give rise to a @DISEASE$ that can, in some cases, lead to a pigmentary glaucoma.	false
+6f004a72cf5b07c41bb94fa33785d583dad12776	Reverse pupillary block is introduced as a new @PHENOTYPICFEATURE$-implant complication and as the principle mechanism in @DISEASE$ (PDS) and pigmentary glaucoma (PG), causing posterior iris bowing and zonular rubbing.	false
+c6f26070d28b808fdcd761e6d9602e43b831ca7d	Among the most common late postoperative complications were @DISEASE$ in 27 eyes, 43.5% (12 myopic eyes and 15 hyperopic eyes) and @PHENOTYPICFEATURE$ formation.	false
+b2efbae1a69066a443096a0b82b0ade63c280622	Knowledge of the BS is essential to understand the vitreo-lenticular junction and any complications in some @PHENOTYPICFEATURE$ surgeries, as well as to also understand the pathological origin of @DISEASE$.	false
+5813f9549d1ac089bab453dd891925188b14c305	A retrospective, longitudinal study of 129 eyes in 65 patients with @DISEASE$ and either ocular hypertension of @PHENOTYPICFEATURE$ was undertaken.	false
+326015566eca2583b47aeb59048e3daf47a312fe	Subjects discussed include multifocal Purkinje cell tumors, benign congenital polycystic @PHENOTYPICFEATURE$ of the AV node, several types of congenital heart block, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the @DISEASE$, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, familial atrial fibrillation, long QT syndrome, and apoptosis of the heart.	false
+c7f5c56ed5f9d272d475564de24f5734a849718c	Subjects discussed include multifocal Purkinje cell @PHENOTYPICFEATURE$, benign congenital polycystic tumors of the AV node, several types of congenital heart block, postnatal morphogenesis of the AV node and His bundle (including considerations of persistent fetal dispersion and crib death), the @DISEASE$, left superior vena cava, focal fibromuscular dysplasia of small coronary arteries, hereditary neuromuscular or musculoskeletal diseases, familial atrial fibrillation, long QT syndrome, and apoptosis of the heart.	false
+71b82abea3e24cbbab67f5e1c460c23d25a414f4	The evidence of @DISEASE$ syndrome disappeared from the surface electrocardiogram immediately upon removal of the @PHENOTYPICFEATURE$.	false
+f34cef5629abd01363f6ce8cb8bc1286c638539b	A 24-year-old woman with pheochromocytoma associated with asymmetric septal hypertrophy, @DISEASE$ and pigmentation was operated on and the @PHENOTYPICFEATURE$ was excised.	false
+f3aed441f4eefc3732efa85b483fcf5622d053c9	@DISEASE$ in a Patient with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome Mimicking Juvenile @PHENOTYPICFEATURE$ Epilepsy.	false
+ac8f4c80cf52a0d2ec33bb6761e3ae780e77a24f	The IC positive group showed headache, general fatigue, finger tremor, and short time memory disturbance in 100%, fever (> 37.0 degrees C), cough, palpitation, chest pain, stomachache, myalgia/muscle spasm/@PHENOTYPICFEATURE$ in 83%, heart rate abnormality (sinus tachycardia, sinus bradycardia, or intermittent @DISEASE$ syndrome) in 83%, high domestic fruits intake (> 500 g/day) in 83%, high tea beverage intake (> 500 mL/day) in 66%.	false
+414beea5b54d338e8bd7363b6d8270f596fc3c04	We report a 3-month-old infant girl who presented with supraventricular tachycardia, who was detected to have a large right atrial rhabdomyoma and evidence of Wolff-Parkinson-White (@DISEASE$) syndrome with an accessory pathway corresponding to the position of the @PHENOTYPICFEATURE$.	false
+36df8c56bac28771f87c6fbf635bba5973423b69	Association of isolated @PHENOTYPICFEATURE$, pronounced hypodontia and the @DISEASE$.	false
+58cecbac6f32add2d2e2c873506f015858c9f7fd	Right atrial rhabdomyomas are rare and to our knowledge this is the first reported instance where we could document clearly that the @PHENOTYPICFEATURE$ itself formed the substrate for the @DISEASE$ syndrome.	false
+e6c496327936e404f95fb3f19b1c0171ad8ad034	A 57-year-old woman with SAPHO (synovitis-@DISEASE$-pustulosis-hyperostosis-osteitis) syndrome presented with recurrent episodes of @PHENOTYPICFEATURE$.	false
+fc9b5967d7fd2fb928e615fcd3374478309fc043	The connection between the two diseases is not coincidental: it is encountered in 9.4% of PPP patients, and was reported in the French literature as part of the SAPHO (synovitis @DISEASE$ pustulosis hyperostosis @PHENOTYPICFEATURE$) syndrome.	false
+03134e178cc124231716e31274fefc5b52be576b	The differential diagnosis includes other @DISEASE$ disorders, drug effects, normal grief, and early @PHENOTYPICFEATURE$.	false
+df027f1dc9a7393ad315fcb43fad9c10ca937871	We studied a family with autosomal dominant @DISEASE$ affecting predominantly the knee joints and a mild proximal @PHENOTYPICFEATURE$.	false
+a5cab00fc66524b15d13d60068b4feca040085d4	@DISEASE$ maximum @PHENOTYPICFEATURE$ rating scale scores indicated no severity change during the OLE.	false
+efcdd206ce79d30f6e72c5370e2f16ca6f9b86de	Histological review of the resected specimens revealed nonspecific changes (13.8%), low or @DISEASE$ grade dysplasia (52.9%), high grade dysplasia (21.8%) and @PHENOTYPICFEATURE$ (18.3%).	false
+3bbac622f5ab0ec6f405a551d0bbe2da84cc0a61	Hypothalamic obesity (HO) is a major and unsolved problem in patients with @DISEASE$ hypothalamic lesions and is associated with @PHENOTYPICFEATURE$ and hyperleptinemia.	false
+c43c5c7e2ddab0edea7af053abfbea55808aecef	@DISEASE$ disorders identified were associated with mental retardation rather than specifically with @PHENOTYPICFEATURE$.	false
+9fbd1b2ceedf3777d9c1176fca1f6073ebaf6a48	Academic @DISEASE$ center @PHENOTYPICFEATURE$ clinic.	false
+2e76a8f087b3e3cffb69adbd44c906e5244edc08	Controversy surrounding an @PHENOTYPICFEATURE$-vaccine link has elicited considerable news @DISEASE$ attention.	false
+eddc8191e6056ee484be4ea946f470536741523f	Carotid intima-@DISEASE$ thickness is not related with clinical outcomes in young @PHENOTYPICFEATURE$.	false
+8dfaf147937cd56599333a6a46176ce30278f6c2	@PHENOTYPICFEATURE$ and associated @DISEASE$ disorders in a French epidemiological survey.	false
+c351451b7a819332492a9c861bf579fbdfb3f4fa	Subjective chronic tinnitus is a common @DISEASE$ syndrome with a high frequency of @PHENOTYPICFEATURE$; however, the characteristics of cognitive impairment in chronic tinnitus are poorly understood.	false
+170b023a382d42563ab8384ea61515a9b7c49ba8	Eyes with refractive error exceeding 5.0 D sphere or 2.0 D cylinder, nonlenticular @DISEASE$ opacity, cup-to-disc ratio > 0.9, corneal disease, @PHENOTYPICFEATURE$, or previous intraocular surgery were excluded.	false
+7bae8dd0e7336a16111a068e56d61ac378f783f0	In old age, depressive syndromes often affect people with chronic medical illnesses, @PHENOTYPICFEATURE$, and disability, which can worsen the outcomes of other @DISEASE$ disorders and promote disability.	false
+a159e581a7a9b0ecbfe9e2bc53b8026cfb725384	Intima-@DISEASE$ thickness of the left common carotid artery was associated with @PHENOTYPICFEATURE$ and decline in univariate analysis, but this effect did not persist after adjustment.	false
+f34a6d12696a9b5743ad2c0186ff6d4f8ba3d56c	Excluded were subjects with a history of @PHENOTYPICFEATURE$ or @DISEASE$ disorders known to influence cognitive function.	false
+0c77f3b328cf66324e63349c02655612811ceb52	The exclusion criteria included language-related barriers, severe @PHENOTYPICFEATURE$, or any @DISEASE$ disorder that would interfere with the research assessments.	false
+c0c10f1e47a94779c8513cc3cb92b1a6960dbc9b	Elderly patients who are very difficult to place are so characterized because of behavior disorders that are difficult to manage rather than psychotic symptoms, @PHENOTYPICFEATURE$ or @DISEASE$ disorders.	false
+73e9331283e221ae6c5e09feb13f1b34b1733bee	To analyze in a sample of adults with Down syndrome the presence of common @DISEASE$ diseases, regular use of medication, possible @PHENOTYPICFEATURE$ and oral communication skills.	false
+84c580fb8b2e2633ec928dd42666be112823542b	@PHENOTYPICFEATURE$ and allergic rhinitis are 2 of the most prevalent chronic @DISEASE$ diseases.	false
+e373eb3dcb6664af70bad3a5189bceb09d2833f7	The patient we were introduced to was a 26-year-old woman with no history of @DISEASE$ diseases, except for @PHENOTYPICFEATURE$ and vaginal bleeding.	false
+42192330c127409b7175c320b4b9edf5e4ee3be5	@DISEASE$ is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and @PHENOTYPICFEATURE$.	false
+69eed55823bb07213c9f1f6d97849c0264c8c4da	Here, we describe a 27-year-old woman bom to healthy first-cousin Mexican parents who exhibited the @DISEASE$ phenotype and unilateral @PHENOTYPICFEATURE$.	false
+2dc3c819f4f8631bbdea2db1981884878676b42c	To date, the coexistence of @DISEASE$ and unilateral @PHENOTYPICFEATURE$ has not been reported.	false
+7e68832e6f0004b91a64ee357ce8e922ca848299	@DISEASE$ is a rare disorder of unknown case characterized by progressive painful intermittent muscle spasms, alopecia, malabsorption amenorrhea and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+525a99e2359d942a640fc39ed807b9bb8ff93158	@DISEASE$ (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+b5172fbd322cbdb0556d11c5bf87d3632726f734	@DISEASE$ is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a @PHENOTYPICFEATURE$.	false
+37001d911db56d75078a94270acdfa6ae2411d93	@DISEASE$ is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a @PHENOTYPICFEATURE$, malabsorption, alopecia, and amenorrhea.	false
+e7880bc362f0792f5128b58aac65a8f8aee2cd6d	We report a patient with a unique combination of clinical findings: XY sex reversal, spastic paraplegia, @PHENOTYPICFEATURE$, dysmorphism, and infantile-onset @DISEASE$.	false
+d840518f98eabcee0e678be56209442253b14636	A genetic linkage study was performed with markers spanning the Friedreich ataxia, Spastic ataxia of the Charlevoix-Saguenay, Autosomal recessive ataxia associated with @DISEASE$, Ataxia with oculomotor apraxia, Infantile onset spinocerebellar ataxia, Ataxia with Hearing Loss and Optic Atrophy, AT, ATLD, Spinocerebellar ataxia with axonal neuropathy, Cayman ataxia, Cerebellar ataxia with @PHENOTYPICFEATURE$ optic atrophy and skin abnormalities, Salla syndrome, Marinesco-Sj?gren and the Childhood Spinocerebellar Ataxia loci.	false
+d6a9b3f4a8cf462950895aa99eacad54d5454890	[Anti-epileptic treatment supervision in an Medico-Pedagogic-Institute for @DISEASE$ @PHENOTYPICFEATURE$].	false
+b52ab5f92e900420dd32e7cbe3a1c13393585246	@DISEASE$ tumor size was 4.47 cm, and presenting symptoms included headache, vertigo, cranial neuropathies, and @PHENOTYPICFEATURE$.	false
+750a75822278d41d6d9e40bfcc88d8d8571d5bd6	The presence of @PHENOTYPICFEATURE$ and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or @DISEASE$.	false
+dfa7ac037762f9e05bbdf79f52cd8179ff69ff7e	This review focuses on the biological manifestations of @DISEASE$ and on the link between this disease and the @PHENOTYPICFEATURE$ observed in this case.	false
+0bcd2baec0a9d6317b22ddbcf3ac0a1b80c4d3df	We report a 21-year-old male with type IV @DISEASE$ presenting with fever and @PHENOTYPICFEATURE$, who was diagnosed to have enteric fever- related glomerulonephritis which was successfully treated.	false
+b236b7d9f601072cb0a1464cf82ce4f17a407f44	Effects of glucocorticoids and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors on both clinical and molecular parameters in patients with @DISEASE$.	false
+31a29dbeaf8d058e04cfa9f22d980d173c30b200	To explore the effect of sequential treatment with glucocorticoid and @PHENOTYPICFEATURE$ necrosis factor-alpha inhibitors in patients with @DISEASE$ (TA).	false
+60f2f07d4817f818b850be70aae58d96e32e69d5	We present the case of an 8-year-old girl who developed acute decompensated cardiac, respiratory, and @PHENOTYPICFEATURE$ because of the occlusion of the descending aorta secondary to @DISEASE$ (TA).	false
+34bbf306abf477979fbc2db4ad6284b7642156ba	Uncommonly, @PHENOTYPICFEATURE$ in a case of @DISEASE$ can be due to an unrelated disease, and if the disease is a rare complication, it is even more difficult to diagnose.	false
+d6c6d9b928f030970d7c7e4a4878486d2b400d89	Pulmonary artery intima sarcoma is an uncommon but fatal @PHENOTYPICFEATURE$, which often masquerades chronic thromboembolic pulmonary hypertension (CTEPH) and in the present case @DISEASE$.	false
+069ebd2bd233f11371902f36dbc28eea0412ed0d	The association of @DISEASE$ and @PHENOTYPICFEATURE$ is unusual.	false
+bdce39f7455ba934d468c96494ae1a781defe769	This case report illustrates that the children with @DISEASE$ can develop renal involvement resulting in hematuria, proteinuria and even @PHENOTYPICFEATURE$.	false
+810219fd355ae0b6344cd53b79f70dd5346d8cac	angiography-guided renal-related interventions are effective and safe in patients with @DISEASE$ and @PHENOTYPICFEATURE$; they significantly improve the care of such patients.	false
+059d34c3fe5a6cd7b3bbb9dc497ea0b58661f4c3	The discussion includes advances in the understanding of Merkel cell carcinoma pathogenesis and prognosis; changes in the seventh edition of the American Joint Committee of Cancer staging manual in reference to staging of squamous cell carcinoma and Merkel cell carcinoma; newly described or rare histopathologic patterns and entities including squamoid eccrine ductal carcinoma, rippled-pattern adnexal neoplasms, onychomatricoma, spindle cell predominant trichodiscoma/neurofollicular @PHENOTYPICFEATURE$, and myoepithelioma; and microsatellite instability in sebaceous neoplasms of @DISEASE$ and other tumors.	false
+1a871436806e38770f0debf6f1472dd7284f661b	These examples include lentiginosis-related syndromes (e.g., Peutz-Jeghers syndrome, Carney complex), photosensitivity-related syndromes (Bloom syndrome, Rothmund-Thomson syndrome), and @PHENOTYPICFEATURE$-related syndromes (Cowden syndrome, multiple endocrine neoplasia syndrome, tuberous sclerosis complex, Gardner syndrome, @DISEASE$).	false
+75e7a16f7e9645d0a2a42b2786a3abcd5b3fc73b	In the September 2005 issue of The Iranian Journal of Allergy, @PHENOTYPICFEATURE$ and Immunology, a patient with clinical features consistent with @DISEASE$ was described.	false
+0cebb1065fdcfdfa29b07db36e8183120e11d717	Complete antigenic identity between the tumor @DISEASE$ and the placental ALP was found only in one @PHENOTYPICFEATURE$.	false
+0bb4b1cac963784fe0b0214b22192ff9b3233dc5	Proteinuria, hematuria, muscle pain, diarrhea/@PHENOTYPICFEATURE$, hypotension, shock, and sweating were observed at significantly higher levels in Group 1 compared to Group 2. Serum urea, creatinine, uric acid, lactate dehydrogenase (LDH), aspartate transaminase (AST), alkaline phosphatase (@DISEASE$), and C-reactive protein (CRP) were significantly higher, but serum platelet counts were lower in Group 1 patients.	false
+355727e03c82ea3669061e52003ef8c383fd62e9	Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% @PHENOTYPICFEATURE$, 20,7% @DISEASE$, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies.	false
+e9f5420d976d381ee5822e58c3c722ba9aafa34b	A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn @DISEASE$ or reduced uptake, can lead to structural @PHENOTYPICFEATURE$ changes, or hair loss, although exact data are often lacking.	false
+eddd0bd09cbdcd959318708883a8a39fccc6e9c5	Among 37 cases with a combined degenerative encephalopathy/myelopathy and a @PHENOTYPICFEATURE$, nine had hereditary spastic paraplegia, six had heredoataxias (three of the Friedreich type), nine had lysosomal storage diseases (five of the Krabbe type), seven had other known inborn metabolic @DISEASE$ and six had biochemically undefined disorders.	false
+275cdb85f40e614a7c8a7f5d804260fc3599aa0d	Tyrosinase-related oculocutaneous @PHENOTYPICFEATURE$ (OCA1), an autosomal recessive inborn @DISEASE$ of pigmentation, is caused by the deficiency of tyrosinase.	false
+d8b9655cd7dda744aef7cea46862fe270c60ef1f	Albinism is a heterogeneous group of conditions having in common a hereditary @DISEASE$ of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of @PHENOTYPICFEATURE$ of eyes, skin, and hair.	false
+06b2a394cb6bdba717a30739ac9c10524d20f9f5	In the present study, using a rat model of recurrent @PHENOTYPICFEATURE$ (FSs), we found an increase in plasma CO, evidence of neuronal damage and apoptosis, an increase in the expression of the endoplasmic reticulum stress (@DISEASE$) marker glucose-regulated protein 78 (GRP78) and C/EBP homologous binding protein (CHOP), and an increase in phosphorylated protein kinase RNA-like endoplasmic reticulum kinase (p-PERK)/eukaryotic translation initiation factor 2 alpha (p-eIF2?) in the hippocampus after 10 FSs.	false
+0a63a1f907cb77b2c5876a7449631f3776d6337a	In neuropaediatrics the paediatrician and epileptolgist must be aware of congenital @DISEASE$ of metabolism as being responsible for epilepsy, especially in cases of drug resistant epilepsy or when accompanied by other systemic features, @PHENOTYPICFEATURE$ or unexplained biochemical alterations.	false
+d6ef2901b13d2fa9269118238fa909b2310a2672	They include musculoskeletal disorders (clubbing, hypertrophic osteoarthropathy, dermatomyositis, and multicentric reticulohistiocytosis), reactive erythemas (erythema gyratum repens and necrolytic migratory erythema), vascular dermatoses (Trousseau's syndrome), papulosquamous disorders (acanthosis nigricans, tripe palms, @PHENOTYPICFEATURE$, @DISEASE$, pityriasis rotunda, Bazex's syndrome, florid cutaneous papillomatosis, the sign of Leser-Tr?lat, and extramammary Paget's disease), and disorders of hair growth (hypertrichosis lanuginosa acquisita).	false
+b1ffcae2cfcbde152455af80084f0cb51c549ea1	Common skin findings observed were pigmentation (86%), xerosis (83%), pallor (79%), pruritus (69%), @DISEASE$ (50.5%), and bacterial @PHENOTYPICFEATURE$ (18.5%).	false
+8d1e3477aa2af5b57fef5ac077254933613e7c75	@PHENOTYPICFEATURE$ was confirmed in 100%, family history of @DISEASE$ in 75%, LDL exceeding 115 mg/dL in 68% of the patients.	false
+ccd7bf59a80593a1411eb718bcd442f9d59726dd	Age, previous coronary disease, @PHENOTYPICFEATURE$, smoking habits and alcohol consumption seem to be associated with an increased risk of SCD by @DISEASE$.	false
+b571f80115b2727e2539339af30f51b2be7f14fe	The presence of @DISEASE$ was associated with older age (66.6 ? 11.5 vs 49.2 ? 14.0 years, p <0.001), @PHENOTYPICFEATURE$, and dyslipidemia.	false
+48dfe2deea3c7755b54f4c0d135c163b5343d561	@PHENOTYPICFEATURE$ and DM were the two most significant independent predictors for @DISEASE$ in these patients.	false
+2e44efabd6a0235d124c9365419bb324f01dc757	In patients with @DISEASE$, @PHENOTYPICFEATURE$ hyperglycemia has a neutral effect on LV function during DSE.	false
+269ca302c5fb72873eaeb6af0321af27a174d275	Premature @DISEASE$ is most frequently associated with smoking, @PHENOTYPICFEATURE$ and hyperlipidaemia.	false
+ee7fc78625709b12721fea4e45894a972d99fcc0	Populations included homozygous FH, heterozygous FH with concomitant coronary artery disease (CAD), severe @PHENOTYPICFEATURE$, and hypercholesterolemia at high risk for @DISEASE$.	false
+ae4f8d61b35722915f318c8279b448693e813fa0	Populations included homozygous FH, heterozygous FH with concomitant coronary artery disease (@DISEASE$), severe @PHENOTYPICFEATURE$, and hypercholesterolemia at high risk for CAD.	false
+6f19242907720c8a5b0d61bc97f4818104ffdb34	All factors except gender, @PHENOTYPICFEATURE$, diabetes mellitus and cigarette smoking were univariate predictors of @DISEASE$.	false
+b349b824a39258b45af6e975ca3f3707f72712f9	However, selected modifiable risk factors for @DISEASE$, such as hypertension and @PHENOTYPICFEATURE$, were equally frequent.	false
+9b9f8334e740cab0eb4d7979a774c0685a121a06	Syndecan-4 polymorphisms were associated with essential @PHENOTYPICFEATURE$, BMI, and @DISEASE$ prevalence in the TAMRISK study.	false
+cd4dfb22b1018cec176f21eee09481253cd24131	These patients exhibit variable intellectual disability, @PHENOTYPICFEATURE$ and small head circumference, which can be described as a reversed @DISEASE$ phenotype.	false
+19026a592aab0e314f2fe03a50eda2a0cdf6aca1	@PHENOTYPICFEATURE$ may occur in association with @DISEASE$.	false
+b1c6df66e31d5fb73c7809955b6a99a995fdcb0a	Illness in patients with pre-existing hypothyroidism or @DISEASE$ may precipitate myxedema @PHENOTYPICFEATURE$ or thyroid storm, respectively.	false
+b21fdaa42747773e1c9e1b92c649b7d107b49deb	Recurrent and reversible @PHENOTYPICFEATURE$ with concomitant episodes of @DISEASE$: a new autoimmune syndrome.	false
+daecde69852e994c6ff1d50fe0967508e5a9b810	The clinical presentations were typical for @DISEASE$, but 1 female infant had @PHENOTYPICFEATURE$ in addition to symptoms of hyperthyroidism.	false
+cf4e0833b9675196a2d88dff53b7a1ae969edd43	The clinical presentations were typical for hyperthyroidism, but 1 female infant had @PHENOTYPICFEATURE$ in addition to symptoms of @DISEASE$.	false
+9ee326615ccddaa6c612065a11604ed37ff5bf31	In our cases, the myxedema @PHENOTYPICFEATURE$ was initially diagnosed as brainstem stroke, and the @DISEASE$ was taken for concealed malignant tumor.	false
+b656ac481c08b494132911422fd1fbe99a6bf107	Neonatal @DISEASE$ with accelerated skeletal maturation, craniosynostosis, and @PHENOTYPICFEATURE$.	false
+a5275edc3c2e325db81ffe7c95d9a467e18a0503	The patient was under medication for @PHENOTYPICFEATURE$, osteoporosis and @DISEASE$.	false
+883d1e31b8832df1f3b3c0fc8cf1b3ea4bf99c77	We report on a 31-year-old male patient with a six-year history of @DISEASE$ who developed seizure and @PHENOTYPICFEATURE$.	false
+8e3b19af13623ae13b0c4ed8e13b442d7c3836ff	We report on a 31-year-old male patient with a six-year history of @DISEASE$ who developed @PHENOTYPICFEATURE$ and mental deterioration.	false
+1b0aea90b6a2a67908858d989d818bd646ae0586	@DISEASE$ is the precipitating cause of @PHENOTYPICFEATURE$ in a small percentage of these patients.	false
+e87ed76dc02d183437ec5d4fc5edf1980aa6ac5a	@DISEASE$ and @PHENOTYPICFEATURE$ during pregnancy.	false
+3005d771ad0acb92ddc14a114c2386c9618fb7d5	A 21-year-old man presented with severe corneal @DISEASE$ and steroid-related @PHENOTYPICFEATURE$ bilaterally.	false
+c42e3827abc1e6a47a3e6fd1d76f7b203e1139ef	Medallion-Like Dermal Dendrocytic @PHENOTYPICFEATURE$, Dermatofibrosarcoma Protuberans, and @DISEASE$ Severe Combined Immunodeficiency.	false
+61470b78eee6333012fa2df43d71365ffe43de68	The Auditory Discrimination in Depth (@DISEASE$) program has been reported to train phonological awareness in developmental @PHENOTYPICFEATURE$ and dysgraphia.	false
+fa7a889363aca30fd4af5b8e3f024d5ddd39e2be	HFS of the ipsilateral ANT significantly decreased the incidence of generalized seizures and the mean behavioral seizure stage and afterdischarge duration (@DISEASE$), and shortened cumulative ADD and cumulative @PHENOTYPICFEATURE$ duration.	false
+f0920bfe914afa5a6bba16eedd7d4c64bc720a38	HFS of the ipsilateral ANT significantly decreased the incidence of @PHENOTYPICFEATURE$ and the mean behavioral seizure stage and afterdischarge duration (@DISEASE$), and shortened cumulative ADD and cumulative generalized seizure duration.	false
+64829faf3bcc6ea3635b92eaba58fce0e19242db	We sought to determine whether asthma, hay fever, and food allergy are associated with @PHENOTYPICFEATURE$ in children and whether disease severity, sleep disturbance, or @DISEASE$/ADHD modified such associations.	false
+388f33f897df1ea485fd7233ed87ff1c0b786368	This discrepancy, combined with reduced episodic @PHENOTYPICFEATURE$, has widespread clinical utility in diagnosing Alzheimer's disease (@DISEASE$).	false
+009abc741355c68b044c35cec36edb3e2197e00a	This study examined the familial relationship between Gilles de la Tourette's syndrome (GTS) and attention deficit disorder (@DISEASE$), learning problems, @PHENOTYPICFEATURE$, and stuttering.	false
+e2dcfc6f821282e3bbc2009db5c6be4ea6b064c6	Bilateral post-treatment with HFS reduced the incidence of generalized seizures and the mean behavioral seizure stage and shortened average afterdischarge duration (@DISEASE$) and @PHENOTYPICFEATURE$ duration (GSD), while bilateral pre-treatment with HFS resulted in a similar but much weaker inhibition of seizures.	false
+e072cc341299a5a96b1a8218b22ee01e3105d940	Bilateral post-treatment with HFS reduced the incidence of @PHENOTYPICFEATURE$ and the mean behavioral seizure stage and shortened average afterdischarge duration (@DISEASE$) and generalized seizure duration (GSD), while bilateral pre-treatment with HFS resulted in a similar but much weaker inhibition of seizures.	false
+c1855f85ec5b77b9f75835f18bd800a20f06486f	Since there were positive correlations between the @DISEASE$ and cervical lengths by Pearson's test, we performed a multivariate logistic regression analysis after adjustment for confounding factors and found that small ADI was the principle parameter associated with @PHENOTYPICFEATURE$.	false
+2c3e0851d2c4ddca890dad27e16afcbba28a36df	Among the described patients with @DISEASE$, the majority experience morbidity (e.g., severe hypernatremia, @PHENOTYPICFEATURE$, venous thromboembolism [VTE], and obesity) and an increased mortality risk.	false
+ec251934e4987f02d83afe29b5234a9cb3381c00	Microglial cells are among the major players in immunoinflammatory, degenerative, and neoplastic disorders of the central nervous system, including multiple sclerosis, @PHENOTYPICFEATURE$'s disease, Alzheimer's disease, and @DISEASE$.	false
+e6394ccfea6c846ceab4509064357d4823b0dfc3	Therefore, the alternative splicing, if its truncated products are dominantly expressed in glomeruli, may cause @DISEASE$ impairment and @PHENOTYPICFEATURE$ progression.	false
+38935b4628e22b8f3eb38fba3d66a52ef0169b94	Background Cerebellar @DISEASE$ (GBM) is rare and presents with increased intracranial pressure and @PHENOTYPICFEATURE$.	false
+0bb602556b302ec53c3a41ff68ae8b42817e7b21	The association between rs78378222 and risk was seen for both glioblastoma multiforme (@DISEASE$) and non-GBM @PHENOTYPICFEATURE$.	false
+8eb7469b5a916a8a7022c678b24030a6986381f6	The association between rs78378222 and risk was seen for both @DISEASE$ (GBM) and non-GBM @PHENOTYPICFEATURE$.	false
+fb68a62fca81964bbf4232db2023c9630adf5604	The association between rs78378222 and risk was seen for both glioblastoma multiforme (GBM) and non-@DISEASE$ @PHENOTYPICFEATURE$.	false
+9691ffc0dc1dcf3483d685b3b8e036cfa2bd9f09	Glioblastoma multiforme (@DISEASE$) @PHENOTYPICFEATURE$ almost invariably recur despite initial treatments.	false
+9fa4b406c600713c28b88109e90254ccbcdc6a14	@DISEASE$ (GBM) @PHENOTYPICFEATURE$ almost invariably recur despite initial treatments.	false
+03cf90ae57e78b953bf15e8a4db007d57365e5a0	This article describes physical basics of ASL and shows clinical examples in neuroimaging such as in meningeoma, @DISEASE$, oligodendroglioma, and @PHENOTYPICFEATURE$, using the Q2TIPS ASL technique.	false
+eb9fc0fbeb44afc00c94db9e8aae6e16098ea345	A 12-year-old girl presented with head and neck pain, @PHENOTYPICFEATURE$ movements, and decreased strength in all extremities caused by a cervical spinal tumor (@DISEASE$).	false
+cfacb1444fa705d6fcc79a860eecbda593ecd21d	A 12-year-old girl presented with head and neck pain, myoclonic movements, and decreased strength in all extremities caused by a cervical spinal @PHENOTYPICFEATURE$ (@DISEASE$).	false
+aa1732297f49ba9877ac85650c649de0da1a30d8	Thin @DISEASE$ nephropathy: premature glomerular obsolescence is associated with hypertension and late onset @PHENOTYPICFEATURE$.	false
+0709d60c93489de3f6bbc693aa931e20bc9f769f	Therapeutic options to treat primary glioblastoma (@DISEASE$) @PHENOTYPICFEATURE$ are scarce.	false
+952cef453a553d3c386c6982667805eb329158dd	Therapeutic options to treat primary @DISEASE$ (GBM) @PHENOTYPICFEATURE$ are scarce.	false
+99a21380f377790a2002c7d2ff3aa55e49ac81c8	To determine the role that mtDNA methylation plays in regulating mtDNA replication during tumorigenesis, we have characterized the patterns of mtDNA methylation using @DISEASE$ and osteosarcoma tumor models that have different combinations of mtDNA genotypes and copy number against common nuclear genome backgrounds at different stages of @PHENOTYPICFEATURE$ progression.	false
+e3cb65c4e0a4389b1a5fb188f1bf1924c93df056	To determine the role that mtDNA methylation plays in regulating mtDNA replication during tumorigenesis, we have characterized the patterns of mtDNA methylation using @DISEASE$ and @PHENOTYPICFEATURE$ tumor models that have different combinations of mtDNA genotypes and copy number against common nuclear genome backgrounds at different stages of tumor progression.	false
+366f6bc376faf4bd3142d1bed8f8bbc6209b897f	To determine the role that mtDNA methylation plays in regulating mtDNA replication during tumorigenesis, we have characterized the patterns of mtDNA methylation using @DISEASE$ and osteosarcoma @PHENOTYPICFEATURE$ models that have different combinations of mtDNA genotypes and copy number against common nuclear genome backgrounds at different stages of tumor progression.	false
+45f4a3f21eb43fa85a008380ccc790e6d289e8b2	@DISEASE$ (FHH) is an autosomal dominant trait comprising hypercalcemia, @PHENOTYPICFEATURE$, parathyroid hyperplasia, and unusually low renal clearance of calcium.	false
+099281f958174fabbda2d7feeeea034d8ead686e	In @DISEASE$ (DM2), the presence of @PHENOTYPICFEATURE$ is unknown.	false
+c1e363f6dfeb6ab7eca4fdba9a3b10feea3c54e0	@PHENOTYPICFEATURE$ in patients with @DISEASE$.	false
+900d8ba37e54603549aada70e23a5f28b1033a2a	Sleep disordered breathing and other @PHENOTYPICFEATURE$ in @DISEASE$.	false
+f3f51892f86f6b43e70a581d5ee4328360e485da	Although sleep disturbances are common in myotonic dystrophy type 1 (DM1), @PHENOTYPICFEATURE$ in @DISEASE$ (DM2) have not been well-characterized.	false
+5688b5ace181bdb7fb2af0ffd730d1e353cf2631	The objective of the study was to investigate the antiallergic potential of PIP in ova-albumin (OVA)-induced AR, mast cell degranulation (@DISEASE$), and OVA-induced paw @PHENOTYPICFEATURE$.	false
+29fa08f283e34db38abb135d6f58bdb71e4432fc	We measured preejection period (PEP) and an index of respiratory sinus @PHENOTYPICFEATURE$ (mean successive difference [@DISEASE$] statistic) during three reactivity tasks.	false
+8fcb1c5d3907e5f420bed69b9a38a03bd4f389bc	Using rates of maximum signal drop (@DISEASE$), we drew regions of interest (ROI) starting near the lesion, and gradually moving outwards to areas of distant @PHENOTYPICFEATURE$ in axial and sagittal planes at 10, 20 and 30 mm from the tumor.	false
+973450f8d22b8a87610e452ea4384942680c5169	It dose dependently reduced @DISEASE$ and paw @PHENOTYPICFEATURE$ (p?<?0.001).	false
+31e75681cf5c8ba9211003b21261b8d4045098e5	In the @DISEASE$ and SASP groups, the ulcer area significantly reduced, and @PHENOTYPICFEATURE$ disappeared.	false
+f32d3b6955458cdd1e25d180f3d26419f35c5a14	Although tumors or @PHENOTYPICFEATURE$-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the @DISEASE$ (TXS).	false
+f16455586e210c03158b2a8518baa518b2fe9f74	Although @PHENOTYPICFEATURE$ or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the @DISEASE$ (TXS).	false
+ea8701455d35d155b63ce844364bcd028c9c9142	The @DISEASE$ @PHENOTYPICFEATURE$ and the three cases with normal karyotypes were homozygous for chromosome heteromorphisms and either homozygous or heterozygous for enzyme and HLA markers and therefore originated from a failure of meiosis II or duplication of a mature haploid ovum.	false
+db90ec01f9f32ba498343028d5cc0724ea7af7ad	@DISEASE$ was found in the oral epithelium and lymphocyte culture, while chromosomal in situ hybridization of the @PHENOTYPICFEATURE$ itself showed a normal XX karyotype.	false
+2da7a6762d6605851974df5f66cc3ba45d68db73	The rats displayed hepatic dysfunction and an associated renal hypotrophy and @PHENOTYPICFEATURE$, evidenced by the alteration in renal function markers such as @DISEASE$, creatininemia, and uremia.	false
+cfe86262ab704ba7b40586c4fe147cb64caa1e8b	In @DISEASE$ (CAH), @PHENOTYPICFEATURE$, hyperinsulinemia and leptin levels are increased.	false
+5a648d64e60d250217fab780e8bd8f8a96b3256c	In congenital adrenal hyperplasia (@DISEASE$), @PHENOTYPICFEATURE$, hyperinsulinemia and leptin levels are increased.	false
+4cafd4861e54a88f780e86439079b77d6133205e	@DISEASE$ (CAH) patients are at a higher risk to develop @PHENOTYPICFEATURE$.	false
+d7f0984c2a2f25dee3f23be487e84db87e33d692	Congenital adrenal hyperplasia (@DISEASE$) patients are at a higher risk to develop @PHENOTYPICFEATURE$.	false
+cca04f723ff3a882c5cb2482de3394158f39deb6	The authors describe a boy with precocious puberty due to @DISEASE$ associated with rickets, @PHENOTYPICFEATURE$, hyperphosphatemia, elevated PTH and alkaline phosphatase levels, and concentrations of 25-OH-D and 1,25-(OH)2D at the upper limit or above normal range.	false
+3b0751bd1c72fe742857552cf08f89d4d4cdc66c	The authors describe a boy with precocious puberty due to @DISEASE$ associated with rickets, hypocalcemia, @PHENOTYPICFEATURE$, elevated PTH and alkaline phosphatase levels, and concentrations of 25-OH-D and 1,25-(OH)2D at the upper limit or above normal range.	false
+6eb174082e4f087e888a2f396f0332eae4c81c2d	Bariatric surgery was a safe and effective treatment of @PHENOTYPICFEATURE$ in this patient with @DISEASE$ and should be considered for patients with CAH and multiple obesity-related comorbidities.	false
+23bdf34e682f03e7780f8ba6834672499ba62839	Bariatric surgery was a safe and effective treatment of obesity in this patient with @DISEASE$ and should be considered for patients with CAH and multiple @PHENOTYPICFEATURE$-related comorbidities.	false
+d5f8ae8891c611f881e08603adad518684621178	Bariatric surgery was a safe and effective treatment of obesity in this patient with CAH and should be considered for patients with @DISEASE$ and multiple @PHENOTYPICFEATURE$-related comorbidities.	false
+e65df6bae6dfc8b363d4506f5d5fc4a157ca7e9a	Bariatric surgery was a safe and effective treatment of @PHENOTYPICFEATURE$ in this patient with CAH and should be considered for patients with @DISEASE$ and multiple obesity-related comorbidities.	false
+27fbefb2143ffa95032468e84333c5f0d948e439	Children and adolescents with @DISEASE$ have a higher risk of @PHENOTYPICFEATURE$.	false
+8afef4f69de54eaa52dae5ae307782044743d277	polycystic ovary syndrome (PCOS), @PHENOTYPICFEATURE$ and @DISEASE$].	false
+3423af535c9483610d948b90c21af376a8e2e112	@PHENOTYPICFEATURE$ and impaired exercise performance in adolescents with @DISEASE$.	false
+c55cbb7d16a0fd05d6bbb9657a75b73aa80cca80	"Mini"-@DISEASE$, euthyroid goiter II, @PHENOTYPICFEATURE$].	false
+35d3ec8cfedd5ea7ee0bdf89287c62f5dea4b27f	[Acanthosis nigricans in @PHENOTYPICFEATURE$ with @DISEASE$].	false
+871d96b35c07477a12a00efa55cacbee95db3eb4	Persistent @PHENOTYPICFEATURE$ and short final height after corticoid overtreatment for @DISEASE$ (CAH) in infancy.	false
+80865c4a75108cf11dc011c17f05789cc32023f3	Persistent @PHENOTYPICFEATURE$ and short final height after corticoid overtreatment for congenital adrenal hyperplasia (@DISEASE$) in infancy.	false
+32234eea010608c85abb7124b0f7bb1a56924034	Skeletal assessment showed that three patients had no discernible @PHENOTYPICFEATURE$, one patient exhibited short 4th metacarpals and borderline cubitus valgus, and the remaining 10 patients had @DISEASE$ and/or mesomelia characteristic of L?ri-Weill dyschondrosteosis (LWD), together with short 4th metacarpals and/or cubitus valgus.	false
+3255e178939c555f67fc99aa6c6a7684fde8d31f	@PHENOTYPICFEATURE$, including shortened ulna, were detected in nine subjects, and in six of them @DISEASE$ was observed.	false
+311462e69ea53f40cd30b193e0bf10529cb940e0	@PHENOTYPICFEATURE$ in the retina were compared between patients with vascularized (n = 34, group 1) and nonvascularized (n = 7, group 2) PED on indocyanine green angiography and correlated with the size of the @DISEASE$ and the presence of serous retinal detachment.	false
+47311aaa4a4a6f0bb1e4def8b43be664b6b1c64a	This study aimed to compare the oral health status of 6-16 year old pupils with @PHENOTYPICFEATURE$ (MD) and psycho-emotional disorders (@DISEASE$) from Lower Saxony (LS) and Thuringia (TH).	false
+e43045a3a893951c47f5ff70430d6643660269be	GLUT1 deficiency was first associated with an @PHENOTYPICFEATURE$ and more recently found in rare dominant families with epilepsy and paroxysmal exertional dyskinesia (@DISEASE$).	false
+2b28888f4920d178c43a34e8727a658aef891bd3	A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (@DISEASE$), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and @PHENOTYPICFEATURE$ (CSE), and focal epilepsy can be based on a Glut1 defect.	false
+563f8127ffad84cfce21b1a7ef76c74e8eaade0e	Twenty-two eyes with a serous @DISEASE$ exceeding two disc areas associated with AMD with choroidal @PHENOTYPICFEATURE$ [choroidal neovascularization (n = 10), polypoidal choroidal vasculopathy (n = 9), and retinal angiomatous proliferation (n = 3)] received combined PDT and intravitreal bevacizumab, and were followed about every 6 weeks for more than 1 year.	false
+60b2ff78b30fad03746a566269e7614b1b531de1	TRPS1 codon 952 constitutes a mutational hot spot in @DISEASE$ and could be associated with @PHENOTYPICFEATURE$.	false
+cc4acfca48abad2887f8bc737b7851782b7870fd	In addition, the authors sequenced the paired box region of HuP48 from patients with congenital @PHENOTYPICFEATURE$ associated with @DISEASE$.	false
+3b7eaf28089f9d19c21a0b2473bf564f31c55486	A 6-year-old boy with formerly diagnosed @DISEASE$ (KFS) presented with complaints of hearing loss, @PHENOTYPICFEATURE$, and problems related to his hearing aid.	false
+f31ea17d9dbfb55be5ea298d65858881475df931	The prevalence rates of the other less common neurological disorders were 62 for hemiparesis (15 of which were for cerebrovascular accidents), 20 for cerebral palsy, 16 for optic atrophy, 12 for perceptive @PHENOTYPICFEATURE$, 10 for tropical spastic paraparesis, 7 for Parkinson's disease and 5 for motor neuron disease, ataxia and @DISEASE$/athetosis.	false
+581b3bb4b49a674fc78f07117bcf4c5c8d429269	Here we report a case of two patients with distant cutaneous metastases of @DISEASE$: 1) a 66-year-old man who presented with a solitary, erythematous nodule on the scalp and 2) a 44-year-old man who presented with multiple, @PHENOTYPICFEATURE$ nodules on the scalp, the chest wall, and the back.	false
+b3947be09beead2c381fa8ecc7cfa62a7413a276	Two cases of @DISEASE$ in which metastatic @PHENOTYPICFEATURE$ appeared as the first sign of the disease are reported here, with a review of the relevant literature.	false
+5381c7910723682fd1e8fe1280a441450cd50ef1	The authors report on a case of @DISEASE$ diagnosed in the neonatal period on the basis of intracardiac tumor, rib anomalies and @PHENOTYPICFEATURE$.	false
+78f3c924538dd358c1e9df5772a7f208abe864b4	The authors report on a case of @DISEASE$ diagnosed in the neonatal period on the basis of intracardiac @PHENOTYPICFEATURE$, rib anomalies and cerebral calcifications.	false
+bd8643adbe84ec2d48562e9114a53f9e37684dce	@DISEASE$ (TSC) is an @PHENOTYPICFEATURE$ genetic disorder with highly variable expression.	false
+8599050268964103d4e6ff6f5af8696165be8ec0	@DISEASE$ (TSC) is an autosomal-dominant genetic disorder with highly @PHENOTYPICFEATURE$.	false
+a34505c63d313921b79a9b6f4dd6b7cf12c6eda2	[Infantil @PHENOTYPICFEATURE$ hypsarrhythmia encephalopathy and @DISEASE$].	false
+d3f8cdf2460c1476f92a2006da3b54e313fee74d	@PHENOTYPICFEATURE$ in children and young adults with @DISEASE$: MR and diffusion weighted imaging findings.	false
+5d2f9b950b97abcecdcec062be3f203fcb45d549	@DISEASE$ (TS) is a pathology with an @PHENOTYPICFEATURE$ pattern of inheritance that is due to a disorder affecting cell differentiation and proliferation that produces hamartomas in different organs.	false
+dfbdde9e491087a2fd1e62962764b51781114d72	@DISEASE$ (TS) is a rare @PHENOTYPICFEATURE$ genetic disease.	false
+66e525ce2e806d532e969142c176d16f1844ec7d	Systemic abnormalities included a seizure disorder, periungual fibroma, and @PHENOTYPICFEATURE$ suggesting systemic @DISEASE$.	false
+4d06bec6a37d92236357fe3a164e14b3f4bd83c8	The discovery at CT-scanning of @PHENOTYPICFEATURE$ raises a possible connection of LAM with Bourneville's @DISEASE$.	false
+e97804d498b0c4d811228efef09043b6294de309	A case of @DISEASE$ with @PHENOTYPICFEATURE$, retinal phakoma and premature canities is reported for its interesting features.	false
+bd74b54277eb7e47bd185fd8310ddd21835939ce	Genetic and imaging features of @PHENOTYPICFEATURE$ in @DISEASE$: more insights into their pathogenesis.	false
+8d3ffd75945d83069a0997ec7ee302ca82c0483e	The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and @PHENOTYPICFEATURE$, complete syndactyly of fingers 3/4, partial @DISEASE$ of toes 2/3) and facial but no body asymmetry.	false
+e1b70158d8b1bdad3d92a8650e40be2efaa15782	Physical examination revealed @PHENOTYPICFEATURE$, obesity, prematurely gray hair, shortness of fingers and toes, @DISEASE$, and multiple dental caries.	false
+8910b20a5a87206f8cdf4aecdf3356a4459d36f5	He had @PHENOTYPICFEATURE$, postaxial polydactyly with unilateral soft tissue @DISEASE$ of fingers, mental retardation, and absence of corpus callosum.	false
+bce3c1c1defdb080c213ba6d2b8195a75adac73c	These findings include growth retardation/@PHENOTYPICFEATURE$, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, @DISEASE$ of toes, and hallux valgus.	false
+3dd59e51ba7b725cd7ba04d0c1f28bb31cc208c2	We report on a 4-year-old female with hemihyperplasia, @DISEASE$ of fingers and toes, bilateral 5th finger clinodactyly, @PHENOTYPICFEATURE$, developmental delay, and microcephaly associated with an 11.2 Mb duplication of Xq25-Xq27.1.	false
+3f0aff08acf446004fa46eb33fe9c2d5b42177c5	Both show typical @PHENOTYPICFEATURE$, @DISEASE$ of fingers and toes, growth retardation, postnatal microcephaly and developmental delay, particularly involving speech.	false
+3a368e491b3a1de00a47c3071146eecd1d615d5c	The syndrome is characterized by multisystem abnormalities consisting of QT prolongation, congenital heart defects, @DISEASE$, @PHENOTYPICFEATURE$, and neurological symptoms.	false
+dd31cb89e0c3469f9735594b4f8f5f66a270b030	The malformations present were @PHENOTYPICFEATURE$, cleft palate, congenital heart disease, genitourinary abnormalities, and @DISEASE$ of the toes.	false
+fb75c6397247d51740ca2bfd19a88a0699ece4cc	The patient had microphthalmia, @PHENOTYPICFEATURE$, widely spaced nipples, bifid ureter, @DISEASE$ of the toes, and mental retardation.	false
+9bf44daa934efc666fc9ae5a6a25fcd1e99d221b	A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and @PHENOTYPICFEATURE$, the unique facial appearance with cleft lip/palate, cutaneous @DISEASE$ of the fingers and mild mental retardation.	false
+ac6c5177f65c5aad35aa2f5a4aaf5e577b6fb670	@PHENOTYPICFEATURE$ ulcer of the oral mucosa (EUOM) is a rare, benign, self-resolving @DISEASE$, which typically presents with asymptomatic to mildly tender ulcers.	false
+dbeefab50fca6a4afd2dac369847e10d087381ff	Adverse effects included cytomegalovirus (CMV) retinitis, cataract, graft-versus-host disease, @DISEASE$, persistent strabismus, and transient @PHENOTYPICFEATURE$.	false
+40e083c2a2e5c354c7fe725d11cf53013e9eba91	Adverse effects included cytomegalovirus (CMV) retinitis, @PHENOTYPICFEATURE$, graft-versus-host disease, @DISEASE$, persistent strabismus, and transient visual loss.	false
+73157b88b7badac126a5a5d4e854eced5fb6917b	@PHENOTYPICFEATURE$ ulcer of the oral mucosa: another histological simulator of CD30+ @DISEASE$.	false
+6166bc35175397d9e109188ec51680489b05b2c0	MCD is a non-clonal @DISEASE$ in which common symptoms include fever, night sweats, @PHENOTYPICFEATURE$, and fatigue.	false
+ee06bc1a59b73cb37482c783b2553b1a39711186	Therefore, we performed polymerase chain reaction (PCR) with DNA from PBMC of 44 healthy adults, 31 HIV-seropositive individuals and 33 patients with @PHENOTYPICFEATURE$ or @DISEASE$.	false
+c5174127eb7d5b246bcf809a3060d35badfece39	The diagnosis of paracoccidioidomycosis should be considered in a patient coming from regions where Paracoccidioides is endemic, and presenting with a @DISEASE$, @PHENOTYPICFEATURE$, eosinophilia and hypergammaglobulinemia.	false
+17f23eac33e3f7463f61cf355f08b0a7216125ce	We report a long-surviving patient with a CD56-positive T-cell @DISEASE$ of the gastrointestinal tract that presented as vomiting, diarrhea, @PHENOTYPICFEATURE$, and pain.	false
+e3ade003c3587890c2776c44650b4a6ed238c053	Hairy cell @PHENOTYPICFEATURE$, previously known as leukaemic reticuloendotheliosis, is an indolent @DISEASE$ of unknown etiology.	false
+e3ade003c3587890c2776c44650b4a6ed238c053	Hairy cell @PHENOTYPICFEATURE$, previously known as leukaemic reticuloendotheliosis, is an indolent @DISEASE$ of unknown etiology.	false
+237ccdfebc2b4bdbdb04e09cb945dd97179c69b9	The majority of patients had @PHENOTYPICFEATURE$/myelodysplasia (MDS) (N=57), nine had @DISEASE$, two had myeloma and three had myeloproliferative diseases.	false
+34f787b50958ccb2a1a0f36773ab79f0d5a0db71	@PHENOTYPICFEATURE$ and hyperinsulinemia in rodent models of severe @DISEASE$ infection.	false
+8899086abc6449fa7c1c5c86031f2cff01921fea	Ruby-eye, a new autosomal @PHENOTYPICFEATURE$ in the @DISEASE$ mosquito, Anopheles stephensi Liston.	false
+6b95c003a438e0e2227195eb6ebd01b32cbd3efb	IUGR was associated with gravidity, maternal @DISEASE$, @PHENOTYPICFEATURE$, and delivering a female infant.	false
+c033ab1a685370a379caf341afa0d161b83cc04f	Twentynine percent of the children had severe @PHENOTYPICFEATURE$, 92% had anaemia (haemoglobin less than 10 g/dl) 24(7%) of these were severely anaemic while 76% had @DISEASE$ parasitaemia.	false
+d0212e6d97c138e481a99d4c9bcc4d50527ff758	The Malaria Score for Adults (MSA) and Coma @PHENOTYPICFEATURE$ Malaria (CAM) score have recently been proposed to risk stratify patients with @DISEASE$.	false
+289caec374aa02f4b95a8f53909fb27db8261766	The Malaria Score for Adults (MSA) and Coma @PHENOTYPICFEATURE$ @DISEASE$ (CAM) score have recently been proposed to risk stratify patients with malaria.	false
+1610fe2e705aaa08035143da9bdd0937a505e7df	The @DISEASE$ Score for Adults (MSA) and Coma @PHENOTYPICFEATURE$ Malaria (CAM) score have recently been proposed to risk stratify patients with malaria.	false
+1f0eabc219374ae37d1fe168972fe30ffdc1a3cf	@PHENOTYPICFEATURE$ was more frequent in patients with high parasitaemia (P = 0.029) and their first episode of @DISEASE$ (P = 0.016).	false
+26dda679f8da7761ebc78c6bfa2b615a75a2da2c	@DISEASE$-induced neurologic impairment, anemia, @PHENOTYPICFEATURE$, and low birth weight imperil normal development and survival.	false
+2f4f042e71655da5261f17d19eff576b09c88a36	There was no statistical difference for @DISEASE$ incidence, @PHENOTYPICFEATURE$, nausea and hair loss.	false
+2dbaeca2257a590d99396054efd25903285654c6	Spontaneous @PHENOTYPICFEATURE$ in @DISEASE$ has not earlier been reported from India.	false
+e91b5e30e4c3d8499380e3f59934be3d23a528bd	@PHENOTYPICFEATURE$ and severe Plasmodium falciparum malaria among pregnant Sudanese women in an area characterized by unstable @DISEASE$ transmission.	false
+bb2dd773fbfdc8f43f200fc43104ac1424137693	The patients with congenital disorders of the oblique muscles and with congenital elevation deficiencies other than @DISEASE$ had relatives with @PHENOTYPICFEATURE$, infantile esotropia, DRS, congenital abduction deficiency, and unspecified forms of strabismus.	false
+bdb78aca05a3ff84142d95eda0efdd26b820cb60	@DISEASE$ is a rare @PHENOTYPICFEATURE$.	false
+3298b56849d928e9d7ad75799a5fe4cad6344ecb	Other diagnoses included fourth nerve palsy, sixth nerve palsy, @DISEASE$, congenital muscular torticollis, @PHENOTYPICFEATURE$, and blowout orbital fracture.	false
+be2b5bb801caef1127f23cd5d086e5cd59254469	A few reports have previously described @DISEASE$ after upper eyelid surgery, including blepharoplasty and @PHENOTYPICFEATURE$ repair.	false
+b876b6e01e090baa0d2652ac8743b42b903e1cd0	Patients with Brown syndrome confirmed by forced ductions were included in the study if the @DISEASE$ was associated with either an abnormal development of the superior oblique muscle or superior oblique paresis, @PHENOTYPICFEATURE$, Duane syndrome, or other known CCDDs.	false
+918dbf67282b03ecc588f625faf002f62be56ea4	Patients with @DISEASE$ confirmed by forced ductions were included in the study if the Brown syndrome was associated with either an abnormal development of the superior oblique muscle or superior oblique paresis, @PHENOTYPICFEATURE$, Duane syndrome, or other known CCDDs.	false
+cb1c3d5e6371e20b1eaed68b8477175f0fa762ab	Birth defects potentially associated with @DISEASE$ during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and @PHENOTYPICFEATURE$ and other early brain malformations.	false
+52a9e40ee0dbc439e6ce3e2067b4cfa541abc1db	@DISEASE$ during pregnancy has been linked to adverse congenital outcomes including microcephaly, @PHENOTYPICFEATURE$, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1).	false
+e60493efa125363d9169a4b745ab9759cbbda061	@DISEASE$ in a family with autosomal dominantly inherited @PHENOTYPICFEATURE$.	false
+4b58062816555a891338273061260b1a8e5fc2f4	Persistent tachycardia, paroxymal hypertension, and seizures: association with @DISEASE$, dominantly inherited microphthalmia, and @PHENOTYPICFEATURE$.	false
+e786c3c6966834e45acb91dc38eac9aeeff1e189	Persistent tachycardia, paroxymal hypertension, and seizures: association with @DISEASE$, dominantly inherited @PHENOTYPICFEATURE$, and cataracts.	false
+1cc4ae7f39bdbe09bfef8b1d8b1b529a416bdb1d	Four heterozygotes presented with @PHENOTYPICFEATURE$ or tremor, whilst 1 had @DISEASE$-athetosis.	false
+7e93be93ed0aebcac8dc9533db6d335684eb7b5d	In the management of a @DISEASE$, human chorionic gonadotropin (hCG) is the most reliable @PHENOTYPICFEATURE$ marker.	false
+6988f392964fe0c2d908faa9ee01740ddec71de2	Familial @DISEASE$ and @PHENOTYPICFEATURE$ epilepsy.	false
+00849a40faff962fda130639e0525f860bf2c69b	Further analysis showed that dystonia-athetosis-@DISEASE$ was closely associated with position sensory loss, whereas the tremor/@PHENOTYPICFEATURE$ movements were related to cerebellar ataxia.	false
+97300294c1e37c84765aebffa6df75ab6958ddbe	Results have shown that human chorionic gonadotropin-CTP, when compared to other methods of measurement, is the most sensitive @PHENOTYPICFEATURE$ marker and as it is the most accurate, it should be used in careful follow-up observations of a @DISEASE$.	false
+8ec96a62480d2fab02a184c932d374568e28aff4	We have screened for SGCE mutations in index cases from 76 French patients with @PHENOTYPICFEATURE$ syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary @DISEASE$.	false
+438d313eaea9e79c66b8bec425fb1a428471fe1c	The aetiology between @DISEASE$ and @PHENOTYPICFEATURE$ is unclear.	false
+8b1e01efe58622c8c5ed8b2241b5ac7f8344c62b	To our knowledge, this is the first description of skull base involvement in a patient with @DISEASE$ leading to sudden @PHENOTYPICFEATURE$.	false
+73a20bffcb8d4734542d8cfcfd9c03e3153f00ff	We present a 10-month-old boy who presented with @PHENOTYPICFEATURE$, abdominal distention and hepatomegaly and who was finally diagnosed with @DISEASE$.	false
+5f439cb522d58650ad7f0270f1d39f7c6e4bc619	Dominant mutations in GJA1, the gene for Cx43, cause @DISEASE$ (ODDD), a pleitropic disorder characterized by oculo-facial abnormalities including micropthalmia, microcornia and hypoplastic nares, syndactyly of the fourth to fifth fingers and @PHENOTYPICFEATURE$.	false
+ecba73a4284f11ef12e9c74aa1b1ba564a5e7739	Additionally, we found 2 cases of absent radius syndrome, 3 cases of @PHENOTYPICFEATURE$, and 1 patient with @DISEASE$, and other atypical malformations.	false
+fdad1429c06b24bc0710acfb801ed55f8841448a	Neonates with @DISEASE$ suffer from a degree of @PHENOTYPICFEATURE$ that is not explained by prematurity alone.	false
+4f33ee769a39d72363a134550f196bfda3991669	Recurrent rhabdomyolysis in a patient with oculocutaneous @PHENOTYPICFEATURE$ type 1 and @DISEASE$.	false
+fb6012c25134da5ad95d4ab96a7f347d410e56a7	Hermansky-Pudlak syndrome (HPS) comprises a constellation of human autosomal recessive disorders characterized by @PHENOTYPICFEATURE$ and @DISEASE$.	false
+cbbb32e475af7c6464e3bd800657c4fad553ee2a	It consists of the triad phenotype of @PHENOTYPICFEATURE$, prolonged bleeding time due to @DISEASE$ and accumulation of ceroid pigment in lysosomal organelles.	false
+5d4e428cc4f970d8965b798d0537ff3d055170f7	Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous @PHENOTYPICFEATURE$ (OCA), @DISEASE$, and ceroid lipofuscin deposition.	false
+f047106391bfc706a9014cc21e5a763fc2bca2c9	Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with @PHENOTYPICFEATURE$ and @DISEASE$.	false
+4d0ff5aeaa151290604c861f2367e751ebd59095	HPS is characterized by oculocutaneous @PHENOTYPICFEATURE$, a @DISEASE$ and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin.	false
+5e73c0cd266e5ea185e48cfdb779b13cf503c814	Hermansky-Pudlak syndrome (HPS) is a disorder of oculocutaneous @PHENOTYPICFEATURE$ (OCA) and @DISEASE$.	false
+81b4e7514c646d17a1c0758b96a2ec95478da327	Clinically, HPS is characterized by oculocutaneous @PHENOTYPICFEATURE$, @DISEASE$, and ceroid tissue accumulation.	false
+0f12476f8199d15fed8c840ce6498f934564688a	Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous @PHENOTYPICFEATURE$, a @DISEASE$, and lysosomal accumulation of ceroid lipofuscin.	false
+fee64e70e0369398bcad781432b3c5326ad92941	The clinical concomitant is a severe, G-CSF-responsive neutropenia in addition to oculocutaneous @PHENOTYPICFEATURE$ and @DISEASE$.	false
+924ce7cff6a03aa6bf6f1b91b618a1c216e4e2f0	This study shows the importance of the ophthalmologist in aiding the diagnosis of this rare genetic condition, since it includes ocular disorders such as @DISEASE$, @PHENOTYPICFEATURE$ of the iris and retina.	false
+f10b0adb4f01f57383af0ef3c8d201461d378b2d	The Pitt-Rogers-Danks syndrome is an entity characterized by @PHENOTYPICFEATURE$ and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, @DISEASE$, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth.	false
+d5c92247bfd10c8bcc00c1d9cf16c8d1cff8f439	At birth and at 4 mo she had @PHENOTYPICFEATURE$, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, @DISEASE$, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity.	false
+3d106e4cbde8dfaf47fd77c66a392c05c805bee8	Ocular prognosis of scleritis with systemic vasculitic diseases varies depending on the specific systemic vasculitic diseases: scleritis in spondyloarthropathies or in systemic lupus erythematosus is usually a benign and self-limiting condition, whereas scleritis in @DISEASE$ is a severe disease that can lead to permanent @PHENOTYPICFEATURE$; scleritis in rheumatoid arthritis or relapsing polychondritis is a disease of intermediate severity, which should be monitored closely for the development of ocular complications.	false
+97a1eaf91771b4397e494a51127dd606f93cbd46	Disinhibition, oral/dietary @PHENOTYPICFEATURE$, and echolalia were more consistently found in Pick's disease compared to @DISEASE$.	false
+1289ae1de151ecfc4e404d50c8630453f447e93e	Among patients with mild @PHENOTYPICFEATURE$ the EEG changes were less severe in the @DISEASE$ group.	false
+911c8ac4f82a1fb6ff244bcce9fd50a866a61df1	The multiplicity of problems associated with @PHENOTYPICFEATURE$ and @DISEASE$ illustrate a management approach for any child with multiple congenital anomalies.	false
+7df5b4c00922123d343aa7cfc3975dfe52a25b64	Risk factors for failure comprised @PHENOTYPICFEATURE$ cerebral palsy, severe learning difficulties, oesophageal atresia, @DISEASE$, and tracheomalacia.	false
+93848785450530dd42b3c707019439a206fa68a8	Thirty-eight percent (25/66) of the @PHENOTYPICFEATURE$ showed @DISEASE$.	false
+02917a66099e86df8d73d27854b117a473dce6bc	The majority of these @PHENOTYPICFEATURE$ arose in glands with @DISEASE$.	false
+15ed6c2feb3eab4e4d6b7e7d81fcfccae2861821	Age, gender, @PHENOTYPICFEATURE$ size, multifocality, capsular invasion, extrathyroidal extension and @DISEASE$ were assessed retrospectively.	false
+9b4d27dc66b6c5381a77ee1b87786fdaa4397149	Evidence of @DISEASE$ may lead to @PHENOTYPICFEATURE$ being overlooked.	false
+b8687a03cc086ed19578600e7d2d9f908a92a975	In most cases the @PHENOTYPICFEATURE$ arise in thyroid glands with @DISEASE$.	false
+563ef5b7ca6162bb7183fd530a4299babae88363	The @PHENOTYPICFEATURE$ associated with @DISEASE$ had lower numbers of TAMs (p = 0.027).	false
+be87262ff3df960237ff835375bc795d30ca3c3c	Thyroid @PHENOTYPICFEATURE$ coexistent with @DISEASE$.	false
+7c020b5e26f0b9c61f21535acbdef07f21e36304	Loss of heterozygosity mutations of @PHENOTYPICFEATURE$ suppressor genes in cytologically atypical areas in @DISEASE$.	false
+98ef97f486a0d07bacd87dcafe9da87c7fb2d792	We report a case of an acute visual acuity loss related with @PHENOTYPICFEATURE$ in a 64 years old woman with @DISEASE$.	false
+196c67103d5686b03a1f8725c14b399fb890b775	Age, @PHENOTYPICFEATURE$ multifocality, tumour bilaterality, coexistence of @DISEASE$ and US characteristics were not significantly related to the presence of central compartment LNM.	false
+13ae986e34027bbb621db2a285ab03c3652ae441	Age, tumour multifocality, @PHENOTYPICFEATURE$ bilaterality, coexistence of @DISEASE$ and US characteristics were not significantly related to the presence of central compartment LNM.	false
+88587d6759369499a2b9e8c24bd45bbda75df120	@DISEASE$ associated with mental retardation and @PHENOTYPICFEATURE$.	false
+26884b59cc2fa2ca6f3258ebfabb8f514c1aee6b	@DISEASE$ (SRS) is a genetically heterogeneous syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, and variable dysmorphic features.	false
+b5fbf6395a5591319578aec0eef424b5c762cd28	Silver-Russell syndrome (@DISEASE$) is a genetically heterogeneous syndrome characterized by low birth weight, @PHENOTYPICFEATURE$, and variable dysmorphic features.	false
+4b50c7f298b94e673ec2f15ec28b0ea68946b7db	Compared with MtF, FtM had a significantly lower @PHENOTYPICFEATURE$ age (before 12 years of age) and lower age when permission for @DISEASE$ was granted.	false
+3c25945fd289be4990dba65605750b05e60d4e5e	Post-SRS treatment results (i.e., median survival time; neurological death-free survival times; and cumulative incidence for local recurrence, repeat SRS for new lesions, @PHENOTYPICFEATURE$, and SRS-related complications) were not inferior (neither less effective nor less safe) for patients in Group B than for those in Group A. We conclude that carefully selected patients with 10 or more tumors are not unfavorable candidates for @DISEASE$ alone.	false
+0b54a30d43c4bca78572f1ff20c952c80845865a	The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the @DISEASE$, a peripheral neuropathy with additional symptoms as pupillary alterations and @PHENOTYPICFEATURE$.	false
+5692078c6b3a9627fc43fdfb74535bf41b20310d	We herein report the case of a 69-year-old woman with @DISEASE$ (CMT2J) who presented with Adie's pupil, @PHENOTYPICFEATURE$, and urinary disturbance in addition to motor symptoms.	false
+75950f1d3e152be8476ed5f737c92ed669e60fda	The observed defects include renal @PHENOTYPICFEATURE$, abnormal glomerulogenesis, renal papillary hypoplasia, hydronephrosis, aberrant ureteric bud (UB) budding, duplicated collecting system and @DISEASE$.	false
+5d5fc28f042c14d00780975de2a884647059b19b	The diagnoses were @DISEASE$, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant @PHENOTYPICFEATURE$ syndrome type 7 and Denys-Drash syndrome.	false
+d486d9b363de54f7454eddd1421e1cc2cbf9d9e0	The diagnoses were @DISEASE$, SCN1A-related @PHENOTYPICFEATURE$ syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome type 7 and Denys-Drash syndrome.	false
+2a363b1c60daf9d09454c32bd41ecc98831fa937	Moreover, mutations in the genes encoding components of the RAS in mice or humans cause diverse types of CAKUT which include renal papillary hypoplasia, hydronephrosis, duplicated collecting system, @DISEASE$, renal @PHENOTYPICFEATURE$, abnormal glomerulogenesis and urinary concentrating defect.	false
+2dcdb552438c0db3fdf80ea843a0b231ff364b54	These forms of CAKUT include renal papillary hypoplasia, hydronephrosis, duplicated collecting system, @DISEASE$, renal @PHENOTYPICFEATURE$, and aberrant glomerulogenesis.	false
+1546e8cdcb9c583c21fddf393835f5e0401b2c54	We describe a brother and sister with mental retardation, short stature, delayed puberty, @DISEASE$, and an @PHENOTYPICFEATURE$ appearance.	false
+8f6e23610d1c31ac921a7cf56a8c5f1a5423fe3d	[Prenatal diagnosis of generalized cytochrome b5 reductase deficiency (@DISEASE$ with @PHENOTYPICFEATURE$, type II) (author's transl)].	false
+70a8b00de17cfea2870bbf5dc8ab1c52bd5ad3b2	Decrease of palmitoyl-CoA elongation in platelets and leukocytes in the patient of @DISEASE$ associated with @PHENOTYPICFEATURE$.	false
+f6be29249351674dbcba36b7dedc6b3c94252496	Lipids of liver, kidney, spleen and muscle in a case of generalized deficiency of cytochrome b5 reductase in @DISEASE$ with @PHENOTYPICFEATURE$.	false
+6b5b9d4283200009d6c1785546504ff612da8a67	Prenatal diagnosis of @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7a8b028dbf7a7930ab8ec98d39fb6ef634c589ca	Adipose fatty acid composition in a case of generalized deficiency of cytochrome b5 reductase in @DISEASE$ with @PHENOTYPICFEATURE$.	false
+7efee96ef080797cc294dc4c9e8fc67c6d0def15	[@DISEASE$ with @PHENOTYPICFEATURE$ and neurologic disorders.	false
+5cee46e8646a5674aeb40a927c1a952fe15acfeb	These three cases of @DISEASE$ are due to type-I NADH-MR deficiency without @PHENOTYPICFEATURE$.	false
+2bf4e733d7532687c5cefad60a1baa1cc435ecb8	@DISEASE$ and @PHENOTYPICFEATURE$.	false
+919eedbb17218229a641446e7ef7f83708c59be8	[@DISEASE$ with @PHENOTYPICFEATURE$.	false
+5050354c36bbb076ecaa870d5bd2b692fd2e20c0	Lipids of myelin, white matter and gray matter in a case of generalized deficiency of cytochrome b5 reductase in @DISEASE$ with @PHENOTYPICFEATURE$.	false